LOCUS       NP_001098720             459 aa            linear   PRI 29-NOV-2021
DEFINITION  neurexin 3 isoform 3 precursor [Homo sapiens].
ACCESSION   NP_001098720
VERSION     NP_001098720.1
DBSOURCE    REFSEQ: accession NM_001105250.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 459)
  AUTHORS   Gulec,G., Cosan,D.T., Sahin,F.M., Calis,I.U., Sonkurt,M.D.,
            Kosger,F. and Essizoglu,A.
  TITLE     Association of Nicotine Use Disorder with Neurexin 3 Gene
            Polymorphisms
  JOURNAL   Turk Psikiyatri Derg 32 (3), 160-166 (2021)
   PUBMED   34750790
  REMARK    GeneRIF: Association of Nicotine Use Disorder with Neurexin 3 Gene
            Polymorphisms.', trans 'Nikotin Kullanim Bozuklugunun Neurexin 3
            Gen Polimorfizmi ile Iliskisi.
REFERENCE   2  (residues 1 to 459)
  AUTHORS   Gulec,G., Cosan,D.T., Sahin,F.M., Calis,I.U., Sonkurt,M.D.,
            Kosger,F. and Essizoglu,A.
  TITLE     Association of Nicotine Use Disorder with Neurexin 3 Gene
            Polymorphisms
  JOURNAL   Turk Psikiyatri Derg 32 (3), 160-166 (2021)
   PUBMED   34647286
  REMARK    GeneRIF: Association of Nicotine Use Disorder with Neurexin 3 Gene
            Polymorphisms.', trans 'Nikotin Kullanim Bozuklugunun Neurexin 3
            Gen Polimorfizmi ile Iliskisi.
REFERENCE   3  (residues 1 to 459)
  AUTHORS   Hishimoto A, Liu QR, Drgon T, Pletnikova O, Walther D, Zhu XG,
            Troncoso JC and Uhl GR.
  TITLE     Neurexin 3 polymorphisms are associated with alcohol dependence and
            altered expression of specific isoforms
  JOURNAL   Hum Mol Genet 16 (23), 2880-2891 (2007)
   PUBMED   17804423
  REMARK    GeneRIF: details of NRXN3's gene structure and variants, and
            association of NRXN3 SNPs with alcohol dependence
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 459)
  AUTHORS   Occhi G, Rampazzo A, Beffagna G and Antonio Danieli G.
  TITLE     Identification and characterization of heart-specific splicing of
            human neurexin 3 mRNA (NRXN3)
  JOURNAL   Biochem Biophys Res Commun 298 (1), 151-155 (2002)
   PUBMED   12379233
  REMARK    GeneRIF: Identification and characterization of heart-specific
            splicing of neurexin 3 mRNA
REFERENCE   5  (residues 1 to 459)
  AUTHORS   Tabuchi K and Sudhof TC.
  TITLE     Structure and evolution of neurexin genes: insight into the
            mechanism of alternative splicing
  JOURNAL   Genomics 79 (6), 849-859 (2002)
   PUBMED   12036300
REFERENCE   6  (residues 1 to 459)
  AUTHORS   Rowen L, Young J, Birditt B, Kaur A, Madan A, Philipps DL, Qin S,
            Minx P, Wilson RK, Hood L and Graveley BR.
  TITLE     Analysis of the human neurexin genes: alternative splicing and the
            generation of protein diversity
  JOURNAL   Genomics 79 (4), 587-597 (2002)
   PUBMED   11944992
REFERENCE   7  (residues 1 to 459)
  AUTHORS   Missler M, Hammer RE and Sudhof TC.
  TITLE     Neurexophilin binding to alpha-neurexins. A single LNS domain
            functions as an independently folding ligand-binding unit
  JOURNAL   J Biol Chem 273 (52), 34716-34723 (1998)
   PUBMED   9856994
  REMARK    GeneRIF: N-terminal sequencing of rat neurexin III alpha provides
            evidence for signal peptide
REFERENCE   8  (residues 1 to 459)
  AUTHORS   Missler M and Sudhof TC.
  TITLE     Neurexins: three genes and 1001 products
  JOURNAL   Trends Genet 14 (1), 20-26 (1998)
   PUBMED   9448462
  REMARK    Review article
REFERENCE   9  (residues 1 to 459)
  AUTHORS   Ichtchenko K, Nguyen T and Sudhof TC.
  TITLE     Structures, alternative splicing, and neurexin binding of multiple
            neuroligins
  JOURNAL   J Biol Chem 271 (5), 2676-2682 (1996)
   PUBMED   8576240
REFERENCE   10 (residues 1 to 459)
  AUTHORS   Ushkaryov YA, Hata Y, Ichtchenko K, Moomaw C, Afendis S, Slaughter
            CA and Sudhof TC.
  TITLE     Conserved domain structure of beta-neurexins. Unusual cleaved
            signal sequences in receptor-like neuronal cell-surface proteins
  JOURNAL   J Biol Chem 269 (16), 11987-11992 (1994)
   PUBMED   8163501
  REMARK    GeneRIF: N-terminal sequencing of cow neurexin III beta provides
            evidence for signal peptide
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA243312.1, BC150194.1 and
            AF123462.1.
            
            Summary: This gene encodes a member of a family of proteins that
            function in the nervous system as receptors and cell adhesion
            molecules. Extensive alternative splicing and the use of
            alternative promoters results in multiple transcript variants and
            protein isoforms for this gene, but the full-length nature of many
            of these variants has not been determined. Transcripts that
            initiate from an upstream promoter encode alpha isoforms, which
            contain epidermal growth factor-like (EGF-like) sequences and
            laminin G domains. Transcripts initiating from the downstream
            promoter encode beta isoforms, which lack EGF-like sequences.
            Genetic variation at this locus has been associated with a range of
            behavioral phenotypes, including alcohol dependence and autism
            spectrum disorder. [provided by RefSeq, Dec 2012].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            contains multiple differences in the coding region, including the
            lack of multiple 5' exons, compared to variant 1. It initiates
            translation at an alternate start codon. The encoded isoform (3) is
            shorter and has a distinct N-terminus, compared to isoform 1. This
            variant encodes a beta isoform.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.68915.1,
                                           SRR1803612.155445.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144835, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..459
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3-q31.1"
     Protein         1..459
                     /product="neurexin 3 isoform 3 precursor"
                     /note="neurexin III; neurexin-3-alpha"
                     /calculated_mol_wt=46502
     sig_peptide     1..35
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=4221
     mat_peptide     36..459
                     /product="neurexin 3 isoform 3"
                     /calculated_mol_wt=46502
     Region          86..265
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cd00110"
                     /db_xref="CDD:238058"
     Region          385..441
                     /region_name="Syndecan"
                     /note="Syndecan domain; pfam01034"
                     /db_xref="CDD:426005"
     CDS             1..459
                     /gene="NRXN3"
                     /gene_synonym="C14orf60"
                     /coded_by="NM_001105250.3:913..2292"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS45145.1"
                     /db_xref="GeneID:9369"
                     /db_xref="HGNC:HGNC:8010"
                     /db_xref="MIM:600567"
ORIGIN      
        1 mhlriharrs pprrpawtlg iwflfwgciv ssvwsssnva sssstssspg shsqhehhfh
       61 gskhhsvpis iyrspvslrg ghagatyifg ksgglilytw pandrpstrs drlavgfstt
      121 vkdgilvrid sapglgdflq lhieqgkigv vfnigtvdis ikeertpvnd gkyhvvrftr
      181 nggnatlqvd nwpvnehypt gntdnerfqm vkqkipfkyn rpveewlqek grqltifntq
      241 aqiaiggkdk grlfqgqlsg lyydglkvln maaennpnik ingsvrlvge vpsilgttqt
      301 tsmppemstt vmettttmat tttrknrsta siqptsddlv ssaecssdde dfvecepsta
      361 nptepgirrv pgasevires ssttgmvvgi vaaaalcili llyamykyrn rdegsyqvde
      421 trnyisnsaq sngtlmkekq qssksghkkq knkdreyyv
//
LOCUS       NP_001238911             173 aa            linear   PRI 17-DEC-2022
DEFINITION  calcipressin-3 isoform 4 [Homo sapiens].
ACCESSION   NP_001238911
VERSION     NP_001238911.1
DBSOURCE    REFSEQ: accession NM_001251982.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 173)
  AUTHORS   Bicer A, Lopez-Henares P, Molero-Magarino M, Feu-Llaurado A,
            Sabariego-Navarro M, Bayod S, Padilla L, Taco MR, Larriba S,
            Perez-Riba M and Serrano-Candelas E.
  TITLE     The PxIxIT motif of the RCAN3 inhibits angiogenesis and tumor
            progression in Triple Negative breast cancer in immunocompetent
            mice
  JOURNAL   Carcinogenesis 43 (8), 808-812 (2022)
   PUBMED   35640493
  REMARK    GeneRIF: The PxIxIT motif of the RCAN3 inhibits angiogenesis and
            tumor progression in Triple Negative breast cancer in
            immunocompetent mice.
REFERENCE   2  (residues 1 to 173)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 173)
  AUTHORS   Zhang XY, Ma H, Li J, Lu XR, Li JQ, Yuan N, Zhang ZL and Xue XY.
  TITLE     Functional implications of miR-145/RCAN3 axis in the progression of
            cervical cancer
  JOURNAL   Reprod Biol 20 (2), 140-146 (2020)
   PUBMED   32345470
  REMARK    GeneRIF: Functional implications of miR-145/RCAN3 axis in the
            progression of cervical cancer.
REFERENCE   4  (residues 1 to 173)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 173)
  AUTHORS   Guasch A, Aranguren-Ibanez A, Perez-Luque R, Aparicio D,
            Martinez-Hoyer S, Mulero MC, Serrano-Candelas E, Perez-Riba M and
            Fita I.
  TITLE     Calcineurin Undergoes a Conformational Switch Evoked via
            Peptidyl-Prolyl Isomerization
  JOURNAL   PLoS One 10 (8), e0134569 (2015)
   PUBMED   26248042
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 173)
  AUTHORS   Enjuanes A, Benavente Y, Bosch F, Martin-Guerrero I, Colomer D,
            Perez-Alvarez S, Reina O, Ardanaz MT, Jares P, Garcia-Orad A,
            Pujana MA, Montserrat E, de Sanjose S and Campo E.
  TITLE     Genetic variants in apoptosis and immunoregulation-related genes
            are associated with risk of chronic lymphocytic leukemia
  JOURNAL   Cancer Res 68 (24), 10178-10186 (2008)
   PUBMED   19074885
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 173)
  AUTHORS   Facchin F, Canaider S, Vitale L, Frabetti F, Griffoni C, Lenzi L,
            Casadei R and Strippoli P.
  TITLE     Identification and analysis of human RCAN3 (DSCR1L2) mRNA and
            protein isoforms
  JOURNAL   Gene 407 (1-2), 159-168 (2008)
   PUBMED   18022329
  REMARK    GeneRIF: The interaction between TNNI3 and the new R variants of
            RCAN3, RCAN3-2,3,5 and RCAN3-2,4,5, is reported.
REFERENCE   8  (residues 1 to 173)
  AUTHORS   Mulero MC, Aubareda A, Schluter A and Perez-Riba M.
  TITLE     RCAN3, a novel calcineurin inhibitor that down-regulates
            NFAT-dependent cytokine gene expression
  JOURNAL   Biochim Biophys Acta 1773 (3), 330-341 (2007)
   PUBMED   17270291
  REMARK    GeneRIF: human RCAN3, encoded by the RCAN3 (also known as DSCR1L2)
            gene, interacts physically and functionally with calcineurin
REFERENCE   9  (residues 1 to 173)
  AUTHORS   Canaider S, Facchin F, Griffoni C, Casadei R, Vitale L, Lenzi L,
            Frabetti F, D'Addabbo P, Carinci P, Zannotti M and Strippoli P.
  TITLE     Proteins encoded by human Down syndrome critical region gene 1-like
            2 (DSCR1L2) mRNA and by a novel DSCR1L2 mRNA isoform interact with
            cardiac troponin I (TNNI3)
  JOURNAL   Gene 372, 128-136 (2006)
   PUBMED   16516408
  REMARK    GeneRIF: The yeast cotransformation and GST fusion protein assay
            demonstrated the interaction between this new DSCR1L2 variant and
            the human cardiac troponin I.
REFERENCE   10 (residues 1 to 173)
  AUTHORS   Strippoli P, Lenzi L, Petrini M, Carinci P and Zannotti M.
  TITLE     A new gene family including DSCR1 (Down Syndrome Candidate Region
            1) and ZAKI-4: characterization from yeast to human and
            identification of DSCR1-like 2, a novel human member (DSCR1L2)
  JOURNAL   Genomics 64 (3), 252-263 (2000)
   PUBMED   10756093
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HQ317426.1, EF467309.1, HQ287726.1, AL034582.11 and AI697154.1.
            
            Transcript Variant: This variant (7) lacks an exon in the coding
            region, which results in a frame-shift, compared to variant 1. The
            resulting isoform (4) has a shorter and distinct C-terminus,
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EF467309.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149004, SAMEA2152719
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..173
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     Protein         1..173
                     /product="calcipressin-3 isoform 4"
                     /note="Down syndrome candidate region 1-like 2; Down
                     syndrome critical region gene 1-like 2; calcipressin-3;
                     down syndrome candidate region 1-like protein 2;
                     myocyte-enriched calcineurin-interacting protein 3"
                     /calculated_mol_wt=20616
     Region          47..123
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     CDS             1..173
                     /gene="RCAN3"
                     /gene_synonym="DSCR1L2; hRCN3; MCIP3; RCN3"
                     /coded_by="NM_001251982.1:60..581"
                     /note="isoform 4 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS57980.1"
                     /db_xref="GeneID:11123"
                     /db_xref="HGNC:HGNC:3042"
                     /db_xref="MIM:605860"
ORIGIN      
        1 mlrdtmkswn dsqsdlcstd qeeeeemifg eneddldemm dlsdlptslf acsvheavfe
       61 areqkerfea lftiyddqvt fqlfksfrrv rinfskpeaa ararielhet dfngqklkly
      121 faqernmnft reqsrhpaww fmsvkvklkr kkrqktpnrk lprrgaptlr pqr
//
LOCUS       NP_848520                 95 aa            linear   PRI 17-DEC-2022
DEFINITION  late cornified envelope protein 3B [Homo sapiens].
ACCESSION   NP_848520
VERSION     NP_848520.1
DBSOURCE    REFSEQ: accession NM_178433.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 95)
  AUTHORS   Niehues H, van der Krieken DA, Ederveen THA, Jansen PAM, van
            Niftrik L, Mesman R, Netea MG, Smits JPH, Schalkwijk J, van den
            Bogaard EH and Zeeuwen PLJM.
  TITLE     Antimicrobial Late Cornified Envelope Proteins: The Psoriasis Risk
            Factor Deletion of LCE3B/C Genes Affects Microbiota Composition
  JOURNAL   J Invest Dermatol 142 (7), 1947-1955 (2022)
   PUBMED   34942199
  REMARK    GeneRIF: Antimicrobial Late Cornified Envelope Proteins: The
            Psoriasis Risk Factor Deletion of LCE3B/C Genes Affects Microbiota
            Composition.
REFERENCE   2  (residues 1 to 95)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 95)
  AUTHORS   Niehues H, Tsoi LC, van der Krieken DA, Jansen PAM, Oortveld MAW,
            Rodijk-Olthuis D, van Vlijmen IMJJ, Hendriks WJAJ, Helder RW,
            Bouwstra JA, van den Bogaard EH, Stuart PE, Nair RP, Elder JT,
            Zeeuwen PLJM and Schalkwijk J.
  TITLE     Psoriasis-Associated Late Cornified Envelope (LCE) Proteins Have
            Antibacterial Activity
  JOURNAL   J Invest Dermatol 137 (11), 2380-2388 (2017)
   PUBMED   28634035
REFERENCE   4  (residues 1 to 95)
  AUTHORS   Chandra A, Lahiri A, Senapati S, Basu B, Ghosh S, Mukhopadhyay I,
            Behra A, Sarkar S, Chatterjee G and Chatterjee R.
  TITLE     Increased Risk of Psoriasis due to combined effect of HLA-Cw6 and
            LCE3 risk alleles in Indian population
  JOURNAL   Sci Rep 6, 24059 (2016)
   PUBMED   27048876
  REMARK    GeneRIF: analysis of disease variants at the LCE3 cluster among the
            psoriasis patients in India
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 95)
  AUTHORS   Chiraz BS, Myriam A, Ines Z, Catherine J, Fatma B, Ilhem C, Raoudha
            T, Hela Z, Hela F, Elyes B, Nejib D, Cindy H, Amel E and Slaheddine
            S.
  TITLE     Deletion of late cornified envelope genes, LCE3C_LCE3B-del, is not
            associated with psoriatic arthritis in Tunisian patients
  JOURNAL   Mol Biol Rep 41 (6), 4141-4146 (2014)
   PUBMED   24566688
  REMARK    GeneRIF: Our data suggest that The LCE deletion, previously
            identified in patients with psoriasis, is not of a major importance
            in the development of PsA in Tunisian patients
REFERENCE   6  (residues 1 to 95)
  AUTHORS   Docampo E, Rabionet R, Riveira-Munoz E, Escaramis G, Julia A,
            Marsal S, Martin JE, Gonzalez-Gay MA, Balsa A, Raya E, Martin J and
            Estivill X.
  TITLE     Deletion of the late cornified envelope genes, LCE3C and LCE3B, is
            associated with rheumatoid arthritis
  JOURNAL   Arthritis Rheum 62 (5), 1246-1251 (2010)
   PUBMED   20213803
  REMARK    GeneRIF: we have verified a pleiotropic effect of a common genetic
            risk factor (LCE3C_LCE3B-del) for autoimmune diseases that is
            involved in both psoriasis and rheumatoid arthritis
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 95)
  AUTHORS   Huffmeier U, Bergboer JG, Becker T, Armour JA, Traupe H, Estivill
            X, Riveira-Munoz E, Mossner R, Reich K, Kurrat W, Wienker TF,
            Schalkwijk J, Zeeuwen PL and Reis A.
  TITLE     Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and
            analysis of interaction with other genetic risk factors
  JOURNAL   J Invest Dermatol 130 (4), 979-984 (2010)
   PUBMED   20016497
  REMARK    GeneRIF: study confirms the recently published finding that the
            deletion of the two LCE genes is a susceptibility factor for
            psoriasis vulgaris with dosage effect
            GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   8  (residues 1 to 95)
  AUTHORS   de Cid R, Riveira-Munoz E, Zeeuwen PL, Robarge J, Liao W,
            Dannhauser EN, Giardina E, Stuart PE, Nair R, Helms C, Escaramis G,
            Ballana E, Martin-Ezquerra G, den Heijer M, Kamsteeg M, Joosten I,
            Eichler EE, Lazaro C, Pujol RM, Armengol L, Abecasis G, Elder JT,
            Novelli G, Armour JA, Kwok PY, Bowcock A, Schalkwijk J and Estivill
            X.
  TITLE     Deletion of the late cornified envelope LCE3B and LCE3C genes as a
            susceptibility factor for psoriasis
  JOURNAL   Nat Genet 41 (2), 211-215 (2009)
   PUBMED   19169253
  REMARK    GeneRIF: LCE3C_LCE3B-del shows epistatic effects with the HLA-Cw6
            allele on the development of psoriasis.
            GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   9  (residues 1 to 95)
  AUTHORS   Jackson B, Tilli CM, Hardman MJ, Avilion AA, MacLeod MC, Ashcroft
            GS and Byrne C.
  TITLE     Late cornified envelope family in differentiating
            epithelia--response to calcium and ultraviolet irradiation
  JOURNAL   J Invest Dermatol 124 (5), 1062-1070 (2005)
   PUBMED   15854049
  REMARK    GeneRIF: paper describing nomenclature changes and expression in
            range of tissues and in response to UV
REFERENCE   10 (residues 1 to 95)
  AUTHORS   Marshall D, Hardman MJ, Nield KM and Byrne C.
  TITLE     Differentially expressed late constituents of the epidermal
            cornified envelope
  JOURNAL   Proc Natl Acad Sci U S A 98 (23), 13031-13036 (2001)
   PUBMED   11698679
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL139247.12.
            
            Sequence Note: This RefSeq record was created from genomic sequence
            data because no transcript data was available for this gene. The
            extent of this transcript is supported by published experimental
            data.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335633.1/ ENSP00000335358.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..95
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..95
                     /product="late cornified envelope protein 3B"
                     /note="late envelope protein 14"
                     /calculated_mol_wt=9681
     Region          1..29
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TA77.1)"
     Region          <27..95
                     /region_name="LCE"
                     /note="Late cornified envelope; pfam14672"
                     /db_xref="CDD:434116"
     Region          68..95
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TA77.1)"
     CDS             1..95
                     /gene="LCE3B"
                     /gene_synonym="LEP14"
                     /coded_by="NM_178433.1:1..288"
                     /db_xref="CCDS:CCDS1016.1"
                     /db_xref="GeneID:353143"
                     /db_xref="HGNC:HGNC:29462"
                     /db_xref="MIM:612614"
ORIGIN      
        1 mscqqnqqqc qplpkcpspk cppkssaqcl ppassccapr pgccggpsse ggcclshhrc
       61 crshrcrrqs snscdrgsgq qdgasdcgyg sggcc
//
LOCUS       NP_001305435             367 aa            linear   PRI 17-DEC-2022
DEFINITION  carboxylesterase 4A isoform 5 [Homo sapiens].
ACCESSION   NP_001305435 XP_005255954
VERSION     NP_001305435.1
DBSOURCE    REFSEQ: accession NM_001318506.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 367)
  AUTHORS   Holmes RS, Wright MW, Laulederkind SJ, Cox LA, Hosokawa M, Imai T,
            Ishibashi S, Lehner R, Miyazaki M, Perkins EJ, Potter PM, Redinbo
            MR, Robert J, Satoh T, Yamashita T, Yan B, Yokoi T, Zechner R and
            Maltais LJ.
  TITLE     Recommended nomenclature for five mammalian carboxylesterase gene
            families: human, mouse, and rat genes and proteins
  JOURNAL   Mamm Genome 21 (9-10), 427-441 (2010)
   PUBMED   20931200
REFERENCE   2  (residues 1 to 367)
  AUTHORS   Holmes RS, Cox LA and VandeBerg JL.
  TITLE     Mammalian carboxylesterase 3: comparative genomics and proteomics
  JOURNAL   Genetica 138 (7), 695-708 (2010)
   PUBMED   20422440
REFERENCE   3  (residues 1 to 367)
  AUTHORS   Holmes RS, Cox LA and Vandeberg JL.
  TITLE     A new class of mammalian carboxylesterase CES6
  JOURNAL   Comp Biochem Physiol Part D Genomics Proteomics 4 (3), 209-217
            (2009)
   PUBMED   20161041
REFERENCE   4  (residues 1 to 367)
  AUTHORS   Hosokawa M, Furihata T, Yaginuma Y, Yamamoto N, Koyano N, Fujii A,
            Nagahara Y, Satoh T and Chiba K.
  TITLE     Genomic structure and transcriptional regulation of the rat, mouse,
            and human carboxylesterase genes
  JOURNAL   Drug Metab Rev 39 (1), 1-15 (2007)
   PUBMED   17364878
  REMARK    Review article
REFERENCE   5  (residues 1 to 367)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC306014.1, AK094783.1,
            AK293061.1, CD369737.1 and AC009084.9.
            On Jan 8, 2016 this sequence version replaced XP_005255954.1.
            
            Summary: This gene encodes a member of the carboxylesterase large
            family. The family members are responsible for the hydrolysis or
            transesterification of various xenobiotics, such as cocaine and
            heroin, and endogenous substrates with ester, thioester, or amide
            bonds. They also participate in fatty acyl and cholesterol ester
            metabolism, and may play a role in the blood-brain barrier system.
            This gene, also called CES6, encodes a secreted enzyme, and may
            play a role in the detoxification of drugs and xenobiotics in
            neural and other tissues of the body and in the cerebrospinal
            fluid. Multiple transcript variants encoding different isoforms
            have been reported, but the full-length nature and/or biological
            validity of some variants have not been determined. [provided by
            RefSeq, Jun 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK094783.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     Protein         1..367
                     /product="carboxylesterase 4A isoform 5"
                     /note="carboxylesterase 8 (putative); carboxylesterase 6"
                     /calculated_mol_wt=41737
     Region          <2..352
                     /region_name="Abhydrolase"
                     /note="alpha/beta hydrolases; cl21494"
                     /db_xref="CDD:451272"
     Site            order(27,159,273)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:238191"
     CDS             1..367
                     /gene="CES4A"
                     /gene_synonym="CES6; CES8"
                     /coded_by="NM_001318506.2:478..1581"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:283848"
                     /db_xref="HGNC:HGNC:26741"
ORIGIN      
        1 maalrwvqen iaafggdpgn vtlfgqsaga msisglmmsp lasglfhrai sqsgtalfrl
       61 fitsnplkva kkvahlagcn hnstqilvnc lralsgtkvm rvsnkmrflq lnfqrdpeei
      121 iwsmspvvdg vvipddplvl ltqgkvssvp yllgvnnlef nwllpyimkf plnrqamrke
      181 titkmlwstr tllnitkeqv plvveeyldn vnehdwkmlr nrmmdivqda tfvyatlqta
      241 hyhrdaglpv ylyefehhar giivkprtdg adhgdemyfl fggpfatgls mgkekalslq
      301 mmkywanfar tgnpndgnlp cwprynkdek ylqldfttrv gmklkekkma fwmslyqsqr
      361 pekqrqf
//
LOCUS       NP_009033                112 aa            linear   PRI 18-DEC-2022
DEFINITION  guanylate cyclase activator 2B preproprotein [Homo sapiens].
ACCESSION   NP_009033
VERSION     NP_009033.1
DBSOURCE    REFSEQ: accession NM_007102.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 112)
  AUTHORS   Fruhbeck G, Becerril S, Martin M, Ramirez B, Valenti V, Moncada R,
            Catalan V, Gomez-Ambrosi J, Silva C, Burrell MA, Escalada J and
            Rodriguez A.
  TITLE     High plasma and lingual uroguanylin as potential contributors to
            changes in food preference after sleeve gastrectomy
  JOURNAL   Metabolism 128, 155119 (2022)
   PUBMED   34990711
  REMARK    GeneRIF: High plasma and lingual uroguanylin as potential
            contributors to changes in food preference after sleeve
            gastrectomy.
REFERENCE   2  (residues 1 to 112)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 112)
  AUTHORS   Folgueira C, Barja-Fernandez S, Gonzalez-Saenz P, Castelao C,
            Vazquez-Cobela R, Pena-Leon V, Ruiz-Pinon M, Casanueva FF, Dieguez
            C, Leis R, Nogueiras R and Seoane LM.
  TITLE     Circulating Pro-Uroguanylin Levels In Children And Their Relation
            To Obesity, Sex And Puberty
  JOURNAL   Sci Rep 8 (1), 14541 (2018)
   PUBMED   30266914
  REMARK    GeneRIF: This study investigates pro-uroguanylin circulating levels
            in children with obesity and its relationship with obesity, sex and
            pubertal development. Sexual dimorphism exists in circulating
            pro-uroguanylin levels with respect to Body Mass Index.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 112)
  AUTHORS   Fernandez-Cachon ML, Pedersen SL, Rigbolt KT, Zhang C, Fabricius K,
            Hansen HH, Elster L, Fink LN, Schafer M, Rhee NA, Langholz E,
            Wandall E, Friis SU, Vilmann P, Kristiansen VB, Schmidt C,
            Schreiter K, Breitschopf K, Hubschle T, Jorsal T, Vilsboll T,
            Schmidt T, Theis S, Knop FK, Larsen PJ and Jelsing J.
  TITLE     Guanylin and uroguanylin mRNA expression is increased following
            Roux-en-Y gastric bypass, but guanylins do not play a significant
            role in body weight regulation and glycemic control
  JOURNAL   Peptides 101, 32-43 (2018)
   PUBMED   29289697
  REMARK    GeneRIF: Guanylin and uroguanylin, as well as their prohormones, do
            not seem to play a significant role in body weight regulation and
            glycemic control, suggesting that guanylin-family peptides do not
            show promise as targets for the treatment of obesity or diabetes.
REFERENCE   5  (residues 1 to 112)
  AUTHORS   Rahbi H, Narayan H, Jones DJ and Ng LL.
  TITLE     The uroguanylin system and human disease
  JOURNAL   Clin Sci (Lond) 123 (12), 659-668 (2012)
   PUBMED   22877138
  REMARK    Review article
REFERENCE   6  (residues 1 to 112)
  AUTHORS   Miyazato M, Nakazato M, Matsukura S, Kangawa K and Matsuo H.
  TITLE     Genomic structure and chromosomal localization of human uroguanylin
  JOURNAL   Genomics 43 (3), 359-365 (1997)
   PUBMED   9268639
REFERENCE   7  (residues 1 to 112)
  AUTHORS   Miyazato M, Nakazato M, Yamaguchi H, Date Y, Kojima M, Kangawa K,
            Matsuo H and Matsukura S.
  TITLE     Cloning and characterization of a cDNA encoding a precursor for
            human uroguanylin
  JOURNAL   Biochem Biophys Res Commun 219 (2), 644-648 (1996)
   PUBMED   8605041
REFERENCE   8  (residues 1 to 112)
  AUTHORS   Hill O, Cetin Y, Cieslak A, Magert HJ and Forssmann WG.
  TITLE     A new human guanylate cyclase-activating peptide (GCAP-II,
            uroguanylin): precursor cDNA and colonic expression
  JOURNAL   Biochim Biophys Acta 1253 (2), 146-149 (1995)
   PUBMED   8519795
REFERENCE   9  (residues 1 to 112)
  AUTHORS   Hess R, Kuhn M, Schulz-Knappe P, Raida M, Fuchs M, Klodt J,
            Adermann K, Kaever V, Cetin Y and Forssmann WG.
  TITLE     GCAP-II: isolation and characterization of the circulating form of
            human uroguanylin
  JOURNAL   FEBS Lett 374 (1), 34-38 (1995)
   PUBMED   7589507
REFERENCE   10 (residues 1 to 112)
  AUTHORS   Kita T, Smith CE, Fok KF, Duffin KL, Moore WM, Karabatsos PJ,
            Kachur JF, Hamra FK, Pidhorodeckyj NV, Forte LR et al.
  TITLE     Characterization of human uroguanylin: a member of the guanylin
            peptide family
  JOURNAL   Am J Physiol 266 (2 Pt 2), F342-F348 (1994)
   PUBMED   8141334
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC114492.6, U34279.1, BC093781.1 and Z50753.1.
            
            Summary: This gene encodes a preproprotein that is proteolytically
            processed to generate multiple protein products, including
            uroguanylin, a member of the guanylin family of peptides and an
            endogenous ligand of the guanylate cyclase-C receptor. Binding of
            this peptide to its cognate receptor stimulates an increase in
            cyclic GMP and may regulate salt and water homeostasis in the
            intestine and kidneys. [provided by RefSeq, Nov 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR279826.2155.1, U34279.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372581.2/ ENSP00000361662.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..112
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..112
                     /product="guanylate cyclase activator 2B preproprotein"
                     /note="uroguanylin; prepro-uroguanylin"
                     /calculated_mol_wt=9489
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2598
     Region          27..111
                     /region_name="Guanylin"
                     /note="Guanylin precursor; pfam02058"
                     /db_xref="CDD:426582"
     mat_peptide     89..112
                     /product="Guanylate cyclase C-activating peptide 2.
                     /id=PRO_0000013148"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16661.1)"
                     /calculated_mol_wt=2603
     mat_peptide     97..112
                     /product="Uroguanylin. /id=PRO_0000013149"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16661.1)"
                     /calculated_mol_wt=1672
     CDS             1..112
                     /gene="GUCA2B"
                     /gene_synonym="GCAP-II; UGN"
                     /coded_by="NM_007102.3:42..380"
                     /db_xref="CCDS:CCDS464.1"
                     /db_xref="GeneID:2981"
                     /db_xref="HGNC:HGNC:4683"
                     /db_xref="MIM:601271"
ORIGIN      
        1 mgcraasgll pgvavvllll lqstqsvyiq yqgfrvqles mkklsdleaq wapsprlqaq
       61 sllpavchhp alpqdlqpvc asqeassifk tlrtianddc elcvnvactg cl
//
LOCUS       NP_078886                488 aa            linear   PRI 18-DEC-2022
DEFINITION  HSPB1-associated protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_078886
VERSION     NP_078886.2
DBSOURCE    REFSEQ: accession NM_024610.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 488)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 488)
  AUTHORS   Saeed K, Ostling P, Bjorkman M, Mirtti T, Alanen K, Vesterinen T,
            Sankila A, Lundin J, Lundin M, Rannikko A, Nordling S, Mpindi JP,
            Kohonen P, Iljin K, Kallioniemi O and Rantala JK.
  TITLE     Androgen receptor-interacting protein HSPBAP1 facilitates growth of
            prostate cancer cells in androgen-deficient conditions
  JOURNAL   Int J Cancer 136 (11), 2535-2545 (2015)
   PUBMED   25359680
  REMARK    GeneRIF: Data suggest a novel role and a possible link for HSPBAP1
            in promoting prostate cancer cell survival in androgen-deficient
            conditions by maintaining a basal level of androgen
            receptor-mediated transcription.
REFERENCE   3  (residues 1 to 488)
  AUTHORS   Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB,
            Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G,
            Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J,
            Graslund S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ
            and Greenblatt J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
REFERENCE   4  (residues 1 to 488)
  AUTHORS   Xi ZQ, Sun JJ, Wang XF, Li MW, Liu XZ, Wang LY, Zhu X, Xiao F, Li
            JM, Gong Y and Guan LF.
  TITLE     HSPBAP1 is found extensively in the anterior temporal neocortex of
            patients with intractable epilepsy
  JOURNAL   Synapse 61 (9), 741-747 (2007)
   PUBMED   17568411
  REMARK    GeneRIF: HSPBAP1 is found extensively in the anterior temporal
            neocortex of patients with intractable epilepsy.
REFERENCE   5  (residues 1 to 488)
  AUTHORS   Jiang M, Ma Y, Cheng H, Ni X, Guo L, Xie Y and Mao Y.
  TITLE     Molecular cloning and characterization of a novel human gene
            (HSPBAP1) from human fetal brain
  JOURNAL   Cytogenet Cell Genet 95 (1-2), 48-51 (2001)
   PUBMED   11978969
  REMARK    GeneRIF: Molecular cloning and characterization of a novel human
            gene (HSPBAP1) from human fetal brain
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC048348.25, AK289410.1,
            BI912690.1, BC011897.2 and BU630355.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 3, 2002 this sequence version replaced NP_078886.1.
            
            Summary: This gene encodes a protein that binds to one of the small
            heat shock proteins, specifically hsp27. Hsp27 is involved with
            cell growth and differentiation. This encoded protein was found to
            be abnormally expressed in patients with intractable epilepsy,
            although how brain function is affected remains unknown. [provided
            by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.464148.1,
                                           SRR1660805.173231.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306103.3/ ENSP00000302562.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..488
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.1"
     Protein         1..488
                     /product="HSPB1-associated protein 1 isoform 1"
                     /note="protein associating with small stress protein
                     PASS1; 27 kDa heat shock protein-associated protein 1;
                     HSPB (heat shock 27kDa) associated protein 1"
                     /calculated_mol_wt=55036
     Region          37..272
                     /region_name="Cupin_8"
                     /note="Cupin-like domain; pfam13621"
                     /db_xref="CDD:433355"
     Region          88..208
                     /region_name="Interaction with HSPB1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96EW2.1)"
     Region          369..415
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96EW2.1)"
     CDS             1..488
                     /gene="HSPBAP1"
                     /gene_synonym="PASS1"
                     /coded_by="NM_024610.6:152..1618"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS3017.1"
                     /db_xref="GeneID:79663"
                     /db_xref="HGNC:HGNC:16389"
                     /db_xref="MIM:608263"
ORIGIN      
        1 maagseattp vivaagagge egehvkpfkp ekakeiimsl qqpaifcnmv fdwparhwna
       61 kylsqvlhgk qirfrmgmks mstvpqfett cnyveatlee fltwncdqss isgpfrdydh
      121 skfwayadyk yfvslfedkt dlfqdvkwsd fgfpgrngqe stlwigslga htpchldsyg
      181 cnlvfqvqgr krwhlfpped tpflyptrip yeessvfski nvvnpdlkrf pqfrkaqrha
      241 vtlspgqvlf vprhwwhyve sidpvtvsin swieleedhl arveeaitrm lvcalktaen
      301 pqntrawlnp teveetshav nccylnaavs affdrcrtse vveiqalrtd gehmkkeeln
      361 vcnhmevgqt gsqnlttgtd kpeaaspfgp dlvpvaqrse eppserggif gsdgkdfvdk
      421 dgehfgklhc akrqqimsns enaieeqias nttttpqtfi stddlldclv npqvtrivaq
      481 lliqgrsl
//
LOCUS       NP_079363                699 aa            linear   PRI 18-DEC-2022
DEFINITION  PGAP2-interacting protein isoform 1 [Homo sapiens].
ACCESSION   NP_079363
VERSION     NP_079363.2
DBSOURCE    REFSEQ: accession NM_025087.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 699)
  AUTHORS   Yang D, Yang H, Luiselli G, Ogagan C, Dai H, Chiu L, Carroll RS and
            Johnson MD.
  TITLE     Increased plasmin-mediated proteolysis of L1CAM in a mouse model of
            idiopathic normal pressure hydrocephalus
  JOURNAL   Proc Natl Acad Sci U S A 118 (33) (2021)
   PUBMED   34380733
  REMARK    GeneRIF: Increased plasmin-mediated proteolysis of L1CAM in a mouse
            model of idiopathic normal pressure hydrocephalus.
REFERENCE   2  (residues 1 to 699)
  AUTHORS   Lange CM, Kutalik Z, Morikawa K, Bibert S, Cerny A, Dollenmaier G,
            Dufour JF, Gerlach TJ, Heim MH, Malinverni R, Mullhaupt B, Negro F,
            Moradpour D and Bochud PY.
  CONSRTM   Swiss Hepatitis C Cohort Study Group
  TITLE     Serum ferritin levels are associated with a distinct phenotype of
            chronic hepatitis C poorly responding to pegylated interferon-alpha
            and ribavirin therapy
  JOURNAL   Hepatology 55 (4), 1038-1047 (2012)
   PUBMED   22095909
REFERENCE   3  (residues 1 to 699)
  AUTHORS   Umemura M, Fujita M, Yoko-O T, Fukamizu A and Jigami Y.
  TITLE     Saccharomyces cerevisiae CWH43 is involved in the remodeling of the
            lipid moiety of GPI anchors to ceramides
  JOURNAL   Mol Biol Cell 18 (11), 4304-4316 (2007)
   PUBMED   17761529
REFERENCE   4  (residues 1 to 699)
  AUTHORS   Ghugtyal V, Vionnet C, Roubaty C and Conzelmann A.
  TITLE     CWH43 is required for the introduction of ceramides into GPI
            anchors in Saccharomyces cerevisiae
  JOURNAL   Mol Microbiol 65 (6), 1493-1502 (2007)
   PUBMED   17714445
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA426878.1, AK025164.1, AC020593.6 and AI377551.1.
            On Aug 22, 2007 this sequence version replaced NP_079363.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK025164.1, BC137387.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000226432.9/ ENSP00000226432.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..699
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p11"
     Protein         1..699
                     /product="PGAP2-interacting protein isoform 1"
                     /note="PGAP2-interacting protein; cell wall biogenesis
                     protein 43 C-terminal homolog"
                     /calculated_mol_wt=78454
     Site            13..33
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H720.2)"
     Site            41..61
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H720.2)"
     Site            93..113
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H720.2)"
     Site            123..143
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H720.2)"
     Site            196..216
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H720.2)"
     Site            237..257
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H720.2)"
     Site            273..293
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H720.2)"
     Site            316..336
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H720.2)"
     Site            349..369
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H720.2)"
     Site            390..410
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H720.2)"
     Region          443..>595
                     /region_name="ElsH"
                     /note="Metal-dependent hydrolase,
                     endonuclease/exonuclease/phosphatase family [General
                     function prediction only]; COG3568"
                     /db_xref="CDD:226098"
     Site            455
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9H720.2)"
     Region          607..627
                     /region_name="Required for function in lipid remodeling.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H720.2)"
     CDS             1..699
                     /gene="CWH43"
                     /gene_synonym="CWH43-C; PGAP2IP"
                     /coded_by="NM_025087.3:156..2255"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS3486.1"
                     /db_xref="GeneID:80157"
                     /db_xref="HGNC:HGNC:26133"
                     /db_xref="MIM:618561"
ORIGIN      
        1 mpslwreill esllgcvsws lyhdlgpmiy yfplqtlelt glegfsiafl spifltitpf
       61 wklvnkkwml tllriitigs iasfqapnak lrlmvlalgv ssslivqavt wwsgshlqry
      121 lriwgfilgq ivlvvlriwy tslnpiwsyq msnkviltls aiatldrigt dgdcskpeek
      181 ktgevatgma srpnwllaga afgslvflth wvfgevslvs rwavsghphp gpdpnpfgga
      241 vllclasglm lpsclwfrgt gliwwvtgta saagllylht waaavsgcvf aiftasmwpq
      301 tlghlinsgt npgktmtiam ifylleiffc awctafkfvp ggvyarersd vllgtmmlii
      361 glnmlfgpkk nldlllqtkn sskvlfrkse kymklflwll vgvgllglgl rhkayerklg
      421 kvaptkevsa aiwpfrfgyd negwsslers ahllnetgad fitilesdas kpymgnndlt
      481 mwlgeklgfy tdfgpstryh twgimalsry pivksehhll pspegeiapa itltvnisgk
      541 lvdfvvthfg nheddldrkl qaiavskllk sssnqviflg yitsapgsrd ylqltehgnv
      601 kdidstdhdr wceyimyrgl irlgyarish aelsdseiqm akfripddpt nyrdnqkvvi
      661 dhrevsekih fnprfgsyke ghnyennhhf hmntpkyfl
//
LOCUS       NP_056166                222 aa            linear   PRI 24-DEC-2022
DEFINITION  tetratricopeptide repeat protein 9A [Homo sapiens].
ACCESSION   NP_056166 XP_027236 XP_943290
VERSION     NP_056166.1
DBSOURCE    REFSEQ: accession NM_015351.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 222)
  AUTHORS   Wang X, Wu X, Zheng B, Chen Y and Zheng D.
  TITLE     Exome sequencing in a Chinese family reveals TTC9 mutation
            associated with keratitis-ichthyosis-deafness (KID) syndrome
  JOURNAL   Eur J Dermatol 28 (4), 534-535 (2018)
   PUBMED   30325323
  REMARK    GeneRIF: In this study, we propose a molecular mechanism whereby
            TTC9 mutations function to generate ichthyosiform hyperkeratosis of
            the skin, either directly or indirectly through altered
            myofibroblasts and altered hormone regulation.
REFERENCE   2  (residues 1 to 222)
  AUTHORS   Shrestha S, Sun Y, Lufkin T, Kraus P, Or Y, Garcia YA, Guy N, Ramos
            P, Cox MB, Tay F and Lin VC.
  TITLE     Tetratricopeptide repeat domain 9A negatively regulates estrogen
            receptor alpha activity
  JOURNAL   Int J Biol Sci 11 (4), 434-447 (2015)
   PUBMED   25798063
  REMARK    GeneRIF: It is plausible therefore that TTC9A negatively regulates
            ERalpha activity through interacting with co-chaperone proteins
            such as FKBP38 and FKBP51.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 222)
  AUTHORS   Al Olama AA, Kote-Jarai Z, Berndt SI, Conti DV, Schumacher F, Han
            Y, Benlloch S, Hazelett DJ, Wang Z, Saunders E, Leongamornlert D,
            Lindstrom S, Jugurnauth-Little S, Dadaev T, Tymrakiewicz M, Stram
            DO, Rand K, Wan P, Stram A, Sheng X, Pooler LC, Park K, Xia L,
            Tyrer J, Kolonel LN, Le Marchand L, Hoover RN, Machiela MJ, Yeager
            M, Burdette L, Chung CC, Hutchinson A, Yu K, Goh C, Ahmed M,
            Govindasami K, Guy M, Tammela TL, Auvinen A, Wahlfors T, Schleutker
            J, Visakorpi T, Leinonen KA, Xu J, Aly M, Donovan J, Travis RC, Key
            TJ, Siddiq A, Canzian F, Khaw KT, Takahashi A, Kubo M, Pharoah P,
            Pashayan N, Weischer M, Nordestgaard BG, Nielsen SF, Klarskov P,
            Roder MA, Iversen P, Thibodeau SN, McDonnell SK, Schaid DJ,
            Stanford JL, Kolb S, Holt S, Knudsen B, Coll AH, Gapstur SM, Diver
            WR, Stevens VL, Maier C, Luedeke M, Herkommer K, Rinckleb AE, Strom
            SS, Pettaway C, Yeboah ED, Tettey Y, Biritwum RB, Adjei AA, Tay E,
            Truelove A, Niwa S, Chokkalingam AP, Cannon-Albright L, Cybulski C,
            Wokolorczyk D, Kluzniak W, Park J, Sellers T, Lin HY, Isaacs WB,
            Partin AW, Brenner H, Dieffenbach AK, Stegmaier C, Chen C,
            Giovannucci EL, Ma J, Stampfer M, Penney KL, Mucci L, John EM,
            Ingles SA, Kittles RA, Murphy AB, Pandha H, Michael A, Kierzek AM,
            Blot W, Signorello LB, Zheng W, Albanes D, Virtamo J, Weinstein S,
            Nemesure B, Carpten J, Leske C, Wu SY, Hennis A, Kibel AS, Rybicki
            BA, Neslund-Dudas C, Hsing AW, Chu L, Goodman PJ, Klein EA, Zheng
            SL, Batra J, Clements J, Spurdle A, Teixeira MR, Paulo P, Maia S,
            Slavov C, Kaneva R, Mitev V, Witte JS, Casey G, Gillanders EM,
            Seminara D, Riboli E, Hamdy FC, Coetzee GA, Li Q, Freedman ML,
            Hunter DJ, Muir K, Gronberg H, Neal DE, Southey M, Giles GG, Severi
            G, Cook MB, Nakagawa H, Wiklund F, Kraft P, Chanock SJ, Henderson
            BE, Easton DF, Eeles RA and Haiman CA.
  CONSRTM   Breast and Prostate Cancer Cohort Consortium (BPC3); PRACTICAL
            (Prostate Cancer Association Group to Investigate Cancer-Associated
            Alterations in the Genome) Consortium; COGS (Collaborative
            Oncological Gene-environment Study) Consortium; GAME-ON/ELLIPSE
            Consortium
  TITLE     A meta-analysis of 87,040 individuals identifies 23 new
            susceptibility loci for prostate cancer
  JOURNAL   Nat Genet 46 (10), 1103-1109 (2014)
   PUBMED   25217961
REFERENCE   4  (residues 1 to 222)
  AUTHORS   Cao S, Ho GH and Lin VC.
  TITLE     Tetratricopeptide repeat domain 9A is an interacting protein for
            tropomyosin Tm5NM-1
  JOURNAL   BMC Cancer 8, 231 (2008)
   PUBMED   18699990
  REMARK    GeneRIF: TTC9A acts as a chaperone protein to facilitate the
            function of tropomyosins (including Tm5NM-1) in stabilizing
            microfilament and it may play a role in cancer cell invasion and
            metastasis
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 222)
  AUTHORS   Cao S, Iyer JK and Lin V.
  TITLE     Identification of tetratricopeptide repeat domain 9, a hormonally
            regulated protein
  JOURNAL   Biochem Biophys Res Commun 345 (1), 310-317 (2006)
   PUBMED   16678794
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D86980.1, BX407741.2 and
            AC004816.1.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Jul 5, 2007 this sequence version replaced
            XP_027236.5, XP_943290.1.
            
            Summary: This gene encodes a protein that contains three
            tetratricopeptide repeats. The gene has been shown to be hormonally
            regulated in breast cancer cells and may play a role in cancer cell
            invasion and metastasis. [provided by RefSeq, Mar 2009].
            
            ##Evidence-Data-START##
            Transcript exon combination :: D86980.1, BC047950.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000256367.3/ ENSP00000256367.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..222
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.2"
     Protein         1..222
                     /product="tetratricopeptide repeat protein 9A"
                     /note="TPR repeat protein 9A"
                     /calculated_mol_wt=24248
     Region          1..49
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92623.3)"
     Region          56..89
                     /region_name="TPR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92623.3)"
     Region          88..116
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92623.3)"
     Site            105
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92623.3)"
     Region          <117..>213
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     Region          125..160
                     /region_name="TPR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92623.3)"
     Region          130..159
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          161..194
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92623.3)"
     Region          164..190
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..222
                     /gene="TTC9"
                     /gene_synonym="TTC9A"
                     /coded_by="NM_015351.2:215..883"
                     /db_xref="CCDS:CCDS45132.1"
                     /db_xref="GeneID:23508"
                     /db_xref="HGNC:HGNC:20267"
                     /db_xref="MIM:610488"
ORIGIN      
        1 merkgsaaga kgnpsppaag egqrpppplc vpgggggapa rgqvgaaaep aelirrahef
       61 ksqgaqcykd kkfreaigky hrallelkgl lpppgererd srpaspagal kpgrlseeqs
      121 ktveaieidc ynslaacllq aelvnyervk eyclkvlkke genfkalyrs gvafyhlgdy
      181 dkalyylkea rtqqptdtnv iryiqltemk lsrcsqreke am
//
LOCUS       NP_001077005             725 aa            linear   PRI 24-DEC-2022
DEFINITION  FYVE, RhoGEF and PH domain-containing protein 3 isoform a [Homo
            sapiens].
ACCESSION   NP_001077005
VERSION     NP_001077005.1
DBSOURCE    REFSEQ: accession NM_001083536.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 725)
  AUTHORS   Renda I, Bianchi S, Vezzosi V, Nori J, Vanzi E, Tavella K and
            Susini T.
  TITLE     Expression of FGD3 gene as prognostic factor in young breast cancer
            patients
  JOURNAL   Sci Rep 9 (1), 15204 (2019)
   PUBMED   31645624
  REMARK    GeneRIF: Expression of FGD3 gene as prognostic factor in young
            breast cancer patients.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 725)
  AUTHORS   Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C,
            Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D,
            Megarbane A, Haase G and Levy N.
  TITLE     Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN
            cause autosomal recessive Charcot-Marie-Tooth type 4H
  JOURNAL   Am J Hum Genet 81 (1), 1-16 (2007)
   PUBMED   17564959
REFERENCE   3  (residues 1 to 725)
  AUTHORS   Rabizadeh S and Bredesen DE.
  TITLE     Ten years on: mediation of cell death by the common neurotrophin
            receptor p75(NTR)
  JOURNAL   Cytokine Growth Factor Rev 14 (3-4), 225-239 (2003)
   PUBMED   12787561
  REMARK    Review article
REFERENCE   4  (residues 1 to 725)
  AUTHORS   Salehi AH, Xanthoudakis S and Barker PA.
  TITLE     NRAGE, a p75 neurotrophin receptor-interacting protein, induces
            caspase activation and cell death through a JNK-dependent
            mitochondrial pathway
  JOURNAL   J Biol Chem 277 (50), 48043-48050 (2002)
   PUBMED   12376548
REFERENCE   5  (residues 1 to 725)
  AUTHORS   Harrington AW, Kim JY and Yoon SO.
  TITLE     Activation of Rac GTPase by p75 is necessary for c-jun N-terminal
            kinase-mediated apoptosis
  JOURNAL   J Neurosci 22 (1), 156-166 (2002)
   PUBMED   11756498
REFERENCE   6  (residues 1 to 725)
  AUTHORS   Hattori A, Okumura K, Nagase T, Kikuno R, Hirosawa M and Ohara O.
  TITLE     Characterization of long cDNA clones from human adult spleen
  JOURNAL   DNA Res 7 (6), 357-366 (2000)
   PUBMED   11214971
REFERENCE   7  (residues 1 to 725)
  AUTHORS   Pasteris NG, Nagata K, Hall A and Gorski JL.
  TITLE     Isolation, characterization, and mapping of the mouse Fgd3 gene, a
            new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue
  JOURNAL   Gene 242 (1-2), 237-247 (2000)
   PUBMED   10721717
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA493667.1, BC032429.1, AL451065.13 and BF509875.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Variants 1, 2, and 4 all encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.231818.1, BC032429.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375482.8/ ENSP00000364631.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..725
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.31"
     Protein         1..725
                     /product="FYVE, RhoGEF and PH domain-containing protein 3
                     isoform a"
                     /note="FGD1 family, member 3; FYVE, RhoGEF and PH
                     domain-containing protein 3; faciogenital dysplasia 3;
                     zinc finger FYVE domain-containing protein 5"
                     /calculated_mol_wt=79270
     Region          1..151
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSP0.1)"
     Site            128
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5JSP0.1)"
     Region          160..339
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(164,168,262,290..291,294..295,297..298,301..302,
                     305..306,309,335,339)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          371..478
                     /region_name="PH1_FGD3"
                     /note="FYVE, RhoGEF and PH domain containing/faciogenital
                     dysplasia protein 3, N-terminal Pleckstrin homology (PH)
                     domain; cd13387"
                     /db_xref="CDD:275422"
     Region          487..532
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSP0.1)"
     Region          531..584
                     /region_name="FYVE_FGD3"
                     /note="FYVE-like domain found in FYVE, RhoGEF and PH
                     domain-containing protein 3 (FGD3) and similar proteins;
                     cd15740"
                     /db_xref="CDD:277279"
     Site            order(538,541,555,558,563,566,580,583)
                     /site_type="other"
                     /note="putative Zn binding site [ion binding]"
                     /db_xref="CDD:277279"
     Region          598..702
                     /region_name="PH2_FGD1-4"
                     /note="FYVE, RhoGEF and PH domain containing/faciogenital
                     dysplasia proteins pleckstrin homology (PH) domain,
                     C-terminus; cd13236"
                     /db_xref="CDD:270056"
     Region          703..725
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSP0.1)"
     CDS             1..725
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /coded_by="NM_001083536.2:425..2602"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS43849.1"
                     /db_xref="GeneID:89846"
                     /db_xref="HGNC:HGNC:16027"
                     /db_xref="MIM:617554"
ORIGIN      
        1 mesgrgsstp pgpiaalgmp dtgpgssslg klqalpvgpr ahcgdpvsla aagdgspdig
       61 ptgelsgslk ipnrdsgids psssvagenf pceegleagp sptvlgahae maldsqvpkv
      121 tpqeeadsdv geepdsentp qkadkdagla qhsgpqkllh iaqellhtee tyvkrlhlld
      181 qvfctrltda gippevimgi fsnissihrf hgqfllpelk triteewdtn prlgdilqkl
      241 apflkmygey vknfdravgl vstwtqrspl fkdvvhsiqk qevcgnltlq hhmlepvqrv
      301 pryelllkdy lkrlpqdapd rkdaerslel istaanhsna airkvekmhk llevyeqlgg
      361 eedivnpane likegqiqkl sakngtpqdr hlflfnsmil ycvpklrlmg qkfsvrekmd
      421 isglqvqdiv kpntahtfii tgrkrslelq trteeekkew iqiiqatiek hkqnsetfka
      481 fggafsqded pslspdmpit stspvepvvt tegssgaagl eprklssktr rdkekqscks
      541 cgetfnsitk rrhhcklcga vicgkcsefk aensrqsrvc rdcfltqpva pestektpta
      601 dpqpsllcgp lrlsesgetw sevwaaipms dpqvlhlqgg sqdgrlprti plpscklsvp
      661 dpeerldsgh vwklqwakqs wylsassael qqqwletlst aahgdtaqds pgalqlqvpm
      721 gaaap
//
LOCUS       NP_003288                603 aa            linear   PRI 24-DEC-2022
DEFINITION  nuclear receptor subfamily 2 group C member 1 isoform a [Homo
            sapiens].
ACCESSION   NP_003288
VERSION     NP_003288.2
DBSOURCE    REFSEQ: accession NM_003297.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 603)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   2  (residues 1 to 603)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   3  (residues 1 to 603)
  AUTHORS   Tanabe O, Shen Y, Liu Q, Campbell AD, Kuroha T, Yamamoto M and
            Engel JD.
  TITLE     The TR2 and TR4 orphan nuclear receptors repress Gata1
            transcription
  JOURNAL   Genes Dev 21 (21), 2832-2844 (2007)
   PUBMED   17974920
REFERENCE   4  (residues 1 to 603)
  AUTHORS   Lin YL, Wang YH and Lee HJ.
  TITLE     Transcriptional regulation of the human TR2 orphan receptor gene by
            nuclear factor 1-A
  JOURNAL   Biochem Biophys Res Commun 350 (2), 430-436 (2006)
   PUBMED   17010934
  REMARK    GeneRIF: The NF1-A transcription factor plays an important role in
            the transcriptional activation of the TR2 gene expression via a
            promoter activating cis-element.
REFERENCE   5  (residues 1 to 603)
  AUTHORS   Franco PJ, Farooqui M, Seto E and Wei LN.
  TITLE     The orphan nuclear receptor TR2 interacts directly with both class
            I and class II histone deacetylases
  JOURNAL   Mol Endocrinol 15 (8), 1318-1328 (2001)
   PUBMED   11463856
REFERENCE   6  (residues 1 to 603)
  AUTHORS   Yu Z, Lee CH, Chinpaisal C and Wei LN.
  TITLE     A constitutive nuclear localization signal from the second
            zinc-finger of orphan nuclear receptor TR2
  JOURNAL   J Endocrinol 159 (1), 53-60 (1998)
   PUBMED   9795341
REFERENCE   7  (residues 1 to 603)
  AUTHORS   Lee CH, Chinpaisal C and Wei LN.
  TITLE     A novel nuclear receptor heterodimerization pathway mediated by
            orphan receptors TR2 and TR4
  JOURNAL   J Biol Chem 273 (39), 25209-25215 (1998)
   PUBMED   9737983
REFERENCE   8  (residues 1 to 603)
  AUTHORS   Lin DL, Wu SQ and Chang C.
  TITLE     The genomic structure and chromosomal location of the human TR2
            orphan receptor, a member of the steroid receptor superfamily
  JOURNAL   Endocrine 8 (2), 123-134 (1998)
   PUBMED   9704569
REFERENCE   9  (residues 1 to 603)
  AUTHORS   Chang C, Kokontis J, Acakpo-Satchivi L, Liao S, Takeda H and Chang
            Y.
  TITLE     Molecular cloning of new human TR2 receptors: a class of steroid
            receptor with multiple ligand-binding domains
  JOURNAL   Biochem Biophys Res Commun 165 (2), 735-741 (1989)
   PUBMED   2597158
REFERENCE   10 (residues 1 to 603)
  AUTHORS   Chang C and Kokontis J.
  TITLE     Identification of a new member of the steroid receptor super-family
            by cloning and sequence analysis
  JOURNAL   Biochem Biophys Res Commun 155 (2), 971-977 (1988)
   PUBMED   3421977
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB266298.1, AK291319.1,
            JQ308177.1 and AC011598.33.
            On Jun 8, 2008 this sequence version replaced NP_003288.1.
            
            Summary: This gene encodes a nuclear hormone receptor characterized
            by a highly conserved DNA binding domain (DBD), a variable hinge
            region, and a carboxy-terminal ligand binding domain (LBD) that is
            typical for all members of the steroid/thyroid hormone receptor
            superfamily. This protein also belongs to a large family of
            ligand-inducible transcription factors that regulate gene
            expression by binding to specific DNA sequences within promoters of
            target genes. Multiple alternatively spliced transcript variants
            have been described, but the full-length nature of some of these
            variants has not been determined. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a, also known as
            TR2-11).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.88917.1,
                                           SRR1660805.139632.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333003.10/ ENSP00000333275.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..603
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q22"
     Protein         1..603
                     /product="nuclear receptor subfamily 2 group C member 1
                     isoform a"
                     /note="TR2 nuclear hormone receptor; orphan nuclear
                     receptor TR2"
                     /calculated_mol_wt=67184
     Region          1..178
                     /region_name="Required for interaction with KAT2B.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P13056.2)"
     Region          108..194
                     /region_name="NR_DBD_TR2_like"
                     /note="DNA-binding domain of the TR2 and TR4 (human
                     testicular receptor 2 and 4) is composed of two C4-type
                     zinc fingers; cd06967"
                     /db_xref="CDD:143525"
     Site            order(113,116,130,133,149,155,165,168)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143525"
     Site            order(123..125,131..132,134,136,139,142,162..163,166,169,
                     180,183)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143525"
     Site            197
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q505F1; propagated from
                     UniProtKB/Swiss-Prot (P13056.2)"
     Site            215
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P13056.2)"
     Site            220
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P13056.2)"
     Site            222
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by MAPK1.
                     /evidence=ECO:0000250|UniProtKB:Q505F1; propagated from
                     UniProtKB/Swiss-Prot (P13056.2)"
     Region          368..589
                     /region_name="NR_LBD_TR2_like"
                     /note="The ligand binding domain of the orphan nuclear
                     receptors TR4 and TR2; cd06952"
                     /db_xref="CDD:132750"
     Site            order(392..393,397,431,435,438,452,479)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:132750"
     Site            order(402,405,409,414,419..420,422..423,426..427)
                     /site_type="active"
                     /note="putative coactivator recognition site [active]"
                     /db_xref="CDD:132750"
     Site            581
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000250|UniProtKB:Q505F1; propagated from
                     UniProtKB/Swiss-Prot (P13056.2)"
     Region          584..603
                     /region_name="Required for interaction with NRIP1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P13056.2)"
     CDS             1..603
                     /gene="NR2C1"
                     /gene_synonym="TR2"
                     /coded_by="NM_003297.4:247..2058"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9051.1"
                     /db_xref="GeneID:7181"
                     /db_xref="HGNC:HGNC:7971"
                     /db_xref="MIM:601529"
ORIGIN      
        1 matieeiahq iieqqmgeiv teqqtgqkiq ivtaldhntq gkqfiltnhd gstpskvila
       61 rqdstpgkvf lttpdaagvn qlffttpdls aqhlqlltdn spdqgpnkvf dlcvvcgdka
      121 sgrhygavtc egckgffkrs irknlvyscr gskdciinkh hrnrcqycrl qrciafgmkq
      181 dsvqcerkpi evsrekssnc aastekiyir kdlrspltat ptfvtdsest rstglldsgm
      241 fmnihpsgvk tesavlmtsd kaescqgdls tlanvvtsla nlgktkdlsq nsnemsmies
      301 lsnddtslce fqemqtngdv srafdtlaka lnpgestacq ssvagmegsv hlitgdssin
      361 ytekegplls dshvafrltm pspmpeylnv hyigesasrl lflsmhwals ipsfqalgqe
      421 nsislvkayw nelftlglaq cwqvmnvati latfvnclhn slqqdkmste rrkllmehif
      481 klqefcnsmv klcidgyeya ylkaivlfsp dhpslenmeq iekfqekayv efqdyitkty
      541 pddtyrlsrl llrlpalrlm natiteelff kglignirid sviphilkme padynsqiig
      601 hsi
//
LOCUS       NP_001093148             371 aa            linear   PRI 25-DEC-2022
DEFINITION  leucine-rich repeat-containing protein 58 [Homo sapiens].
ACCESSION   NP_001093148 XP_057296 XP_943955
VERSION     NP_001093148.1
DBSOURCE    REFSEQ: accession NM_001099678.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 371)
  AUTHORS   Benjamin DJ, Cesarini D, van der Loos MJ, Dawes CT, Koellinger PD,
            Magnusson PK, Chabris CF, Conley D, Laibson D, Johannesson M and
            Visscher PM.
  TITLE     The genetic architecture of economic and political preferences
  JOURNAL   Proc Natl Acad Sci U S A 109 (21), 8026-8031 (2012)
   PUBMED   22566634
REFERENCE   2  (residues 1 to 371)
  AUTHORS   Lingappa JR, Petrovski S, Kahle E, Fellay J, Shianna K, McElrath
            MJ, Thomas KK, Baeten JM, Celum C, Wald A, de Bruyn G, Mullins JI,
            Nakku-Joloba E, Farquhar C, Essex M, Donnell D, Kiarie J, Haynes B
            and Goldstein D.
  CONSRTM   Partners in Prevention HSV/HIV Transmission Study Team
  TITLE     Genomewide association study for determinants of HIV-1 acquisition
            and viral set point in HIV-1 serodiscordant couples with quantified
            virus exposure
  JOURNAL   PLoS One 6 (12), e28632 (2011)
   PUBMED   22174851
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC063952.15 and BC013757.1.
            On or before Jul 26, 2007 this sequence version replaced
            XP_057296.3, XP_943955.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.108909.1,
                                           SRR1660805.52164.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2149876
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295628.4/ ENSP00000295628.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..371
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33"
     Protein         1..371
                     /product="leucine-rich repeat-containing protein 58"
                     /calculated_mol_wt=40455
     Site            24
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q96CX6.2)"
     Region          45..66
                     /region_name="LRR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CX6.2)"
     Region          <67..>247
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:227223"
     Region          69..91
                     /region_name="LRR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CX6.2)"
     Region          70..92
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          92..113
                     /region_name="LRR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CX6.2)"
     Region          93..121
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          121..143
                     /region_name="LRR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CX6.2)"
     Region          122..144
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          144..166
                     /region_name="LRR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CX6.2)"
     Region          145..167
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          167..189
                     /region_name="LRR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CX6.2)"
     Region          168..190
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          190..211
                     /region_name="LRR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CX6.2)"
     Region          191..213
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          213..234
                     /region_name="LRR 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CX6.2)"
     Region          214..236
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          236..256
                     /region_name="LRR 9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CX6.2)"
     Region          340..361
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CX6.2)"
     CDS             1..371
                     /gene="LRRC58"
                     /coded_by="NM_001099678.2:112..1227"
                     /db_xref="CCDS:CCDS46892.1"
                     /db_xref="GeneID:116064"
                     /db_xref="HGNC:HGNC:26968"
ORIGIN      
        1 meeagaavvt ageaelnwsr lsvstetles eleargeerr gareallrll lphnrlvslp
       61 ralgsgfphl qlldvsgnal talgpellal rglrtllakn nrlggpsalp kglaqsplcr
      121 slqvlnlsgn cfqevpasll elralqtlsl ggnqlqsipa eienlqslec lylggnfike
      181 ippelgnlps lnylvlcdnk iqsippqlsq lhslrslslh nnlltylpre ilnlihleel
      241 slrgnplvvr fvrdltydpp tllelaarti kirnisytpy dlpgnllryl gsasncpnpk
      301 cggvyfdccv rqikfvdfcg kyrlplmhyl cspecsspcs sashsstsqs esdsedeasv
      361 aarrmqkvll g
//
LOCUS       NP_891554                904 aa            linear   PRI 25-DEC-2022
DEFINITION  MICAL-like protein 2 [Homo sapiens].
ACCESSION   NP_891554
VERSION     NP_891554.1
DBSOURCE    REFSEQ: accession NM_182924.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 904)
  AUTHORS   Wen P, Wang H, Li Y, Sui X, Hou Z, Guo X, Xue W, Liu D, Wang Y and
            Gao J.
  TITLE     MICALL2 as a substrate of ubiquitinase TRIM21 regulates
            tumorigenesis of colorectal cancer
  JOURNAL   Cell Commun Signal 20 (1), 170 (2022)
   PUBMED   36307841
  REMARK    GeneRIF: MICALL2 as a substrate of ubiquitinase TRIM21 regulates
            tumorigenesis of colorectal cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 904)
  AUTHORS   Sakane A, Yano TA, Uchihashi T, Horikawa K, Hara Y, Imoto I, Kurisu
            S, Yamada H, Takei K and Sasaki T.
  TITLE     JRAB/MICAL-L2 undergoes liquid-liquid phase separation to form
            tubular recycling endosomes
  JOURNAL   Commun Biol 4 (1), 551 (2021)
   PUBMED   33976349
  REMARK    GeneRIF: JRAB/MICAL-L2 undergoes liquid-liquid phase separation to
            form tubular recycling endosomes.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 904)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 904)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 904)
  AUTHORS   Min P, Zhao S, Liu L, Zhang Y, Ma Y, Zhao X, Wang Y, Song Y, Zhu C,
            Jiang H, Gu L and Du J.
  TITLE     MICAL-L2 potentiates Cdc42-dependent EGFR stability and promotes
            gastric cancer cell migration
  JOURNAL   J Cell Mol Med 23 (6), 4475-4488 (2019)
   PUBMED   31034158
  REMARK    GeneRIF: Up-regulation of MICAL-L2 is associated with gastric
            cancer cell migration.
REFERENCE   6  (residues 1 to 904)
  AUTHORS   Sakane A, Alamir Mahmoud Abdallah A, Nakano K, Honda K, Kitamura T,
            Imoto I, Matsushita N and Sasaki T.
  TITLE     Junctional Rab13-binding protein (JRAB) regulates cell spreading
            via filamins
  JOURNAL   Genes Cells 18 (9), 810-822 (2013)
   PUBMED   23890175
REFERENCE   7  (residues 1 to 904)
  AUTHORS   Kanda I, Nishimura N, Nakatsuji H, Yamamura R, Nakanishi H and
            Sasaki T.
  TITLE     Involvement of Rab13 and JRAB/MICAL-L2 in epithelial cell
            scattering
  JOURNAL   Oncogene 27 (12), 1687-1695 (2008)
   PUBMED   17891173
  REMARK    GeneRIF: Involved in epithelial cell scattering.
REFERENCE   8  (residues 1 to 904)
  AUTHORS   Terai T, Nishimura N, Kanda I, Yasui N and Sasaki T.
  TITLE     JRAB/MICAL-L2 is a junctional Rab13-binding protein mediating the
            endocytic recycling of occludin
  JOURNAL   Mol Biol Cell 17 (5), 2465-2475 (2006)
   PUBMED   16525024
REFERENCE   9  (residues 1 to 904)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   10 (residues 1 to 904)
  AUTHORS   Terman JR, Mao T, Pasterkamp RJ, Yu HH and Kolodkin AL.
  TITLE     MICALs, a family of conserved flavoprotein oxidoreductases,
            function in plexin-mediated axonal repulsion
  JOURNAL   Cell 109 (7), 887-900 (2002)
   PUBMED   12110185
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK027124.1, BC037988.1, AK074068.1, DA945802.1 and AY358755.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC037988.1, BK000467.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297508.8/ ENSP00000297508.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..904
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     Protein         1..904
                     /product="MICAL-like protein 2"
                     /note="junctional Rab13-binding protein; molecule
                     interacting with CasL-like 2"
                     /calculated_mol_wt=97372
     Region          1..260
                     /region_name="Forms an intramolecular interaction with the
                     C-terminal coiled coil domain keeping the protein in a
                     closed conformation. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IY33.1)"
     Region          2..107
                     /region_name="CH_MICALL2"
                     /note="calponin homology (CH) domain found in MICAL-like
                     protein 2 and similar proteins; cd21253"
                     /db_xref="CDD:409102"
     Site            order(3,7,57,59..60,63..64,66,75..83,91,93..94,96..97,
                     100..101,104)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409102"
     Site            110
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IY33.1)"
     Region          117..178
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IY33.1)"
     Site            143
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IY33.1)"
     Site            153
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IY33.1)"
     Region          188..241
                     /region_name="LIM_Mical_like_1"
                     /note="This domain belongs to the LIM domain family which
                     are found on Mical (molecule interacting with CasL) like
                     proteins; cd09444"
                     /db_xref="CDD:188828"
     Site            order(188,191,209,212,215,218,238,241)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188828"
     Region          <243..649
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            249
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IY33.1)"
     Region          251..722
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IY33.1)"
     Region          261..697
                     /region_name="Mediates targeting to the cell plasma
                     membrane. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IY33.1)"
     Region          261..388
                     /region_name="Necessary and sufficient for interaction
                     with actinins. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IY33.1)"
     Site            294
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IY33.1)"
     Site            494
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IY33.1)"
     Site            504
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IY33.1)"
     Site            598
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IY33.1)"
     Site            644
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IY33.1)"
     Site            649
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IY33.1)"
     Site            658
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8IY33.1)"
     Site            660
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8IY33.1)"
     Region          698..807
                     /region_name="Forms an intramolecular interaction with the
                     N-terminal Calponin-homology and LIM zinc-binding
                     domains-containing region keeping the protein in a closed
                     conformation. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IY33.1)"
     Site            726
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3TN34; propagated from
                     UniProtKB/Swiss-Prot (Q8IY33.1)"
     Region          740..872
                     /region_name="DUF3585"
                     /note="Protein of unknown function (DUF3585); pfam12130"
                     /db_xref="CDD:432351"
     Region          807..903
                     /region_name="Mediates interaction with RAB13 and is
                     required for transition from the closed to the opened
                     conformation. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IY33.1)"
     CDS             1..904
                     /gene="MICALL2"
                     /gene_synonym="JRAB; MICAL-L2"
                     /coded_by="NM_182924.4:145..2859"
                     /db_xref="CCDS:CCDS5324.1"
                     /db_xref="GeneID:79778"
                     /db_xref="HGNC:HGNC:29672"
ORIGIN      
        1 maairalqqw crqqcegyrd vnicnmttsf rdglafcail hrhrpdlinf salkkeniye
       61 nnklafrvae ehlgipalld aedmvalkvp drlsiltyvs qyynyfhgrs piggmagvkr
      121 asedseeeps gkkapvqaak lpspaparkp plspaqtnpv vqrrnegagg pppktdqala
      181 gslvsstcgv cgkhvhlvqr hladgrlyhr scfrckqcsc tlhsgaykat gepgtfvcts
      241 hlpaaasasp kltglvprqp gamgvdsrts cspqkaqean karpsawepa agnsparasv
      301 paapnpaats atsvhvrspa rpsesrlapt ptegkvrprv tnsspmgwss aapctaaaas
      361 hpavppsapd prpatpqggg aprvaapqtt lsssstsaat vdppawtpsa srtqqarnkf
      421 fqtsavppgt slsgrgptps lvlskdsske qarnflkqal saleeagapa pgrpspataa
      481 vpssqpktea pqasplakpl qsssprvlgl psrmeppapl stsstsqasa lppagrrnla
      541 essgvgrvga gsrpkpeapm akgksttltq dmstslqegq edgpagwran lkpvdrrspa
      601 ertlkpkepr alaepragea prkvsgsfag svhitltpvr pdrtprpasp gpslparsps
      661 pprrrrlavp asldvcdnwl rpeppgqear vqswkeeekk phlqgkpgrp lspanvpalp
      721 getvtspvrl hpdylspeei qrqlqdierr ldalelrgve lekrlraaeg ddaedslmvd
      781 wfwlihekql llrqeselmy kskaqrleeq qldiegelrr lmakpealks lqerrreqel
      841 leqyvstvnd rsdivdslde drlreqeedq mlrdmieklg lqrkkskfrl skiwspksks
      901 spsq
//
LOCUS       NP_001354985             213 aa            linear   PRI 25-DEC-2022
DEFINITION  cell cycle checkpoint control protein RAD9B isoform i [Homo
            sapiens].
ACCESSION   NP_001354985
VERSION     NP_001354985.1
DBSOURCE    REFSEQ: accession NM_001368056.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 213)
  AUTHORS   Cao X, Tian T, Steele JW, Cabrera RM, Aguiar-Pulido V, Wadhwa S,
            Bhavani N, Bi P, Gargurevich NH, Hoffman EN, Cai CQ, Marini NJ,
            Yang W, Shaw GM, Ross ME, Finnell RH and Lei Y.
  TITLE     Loss of RAD9B impairs early neural development and contributes to
            the risk for human spina bifida
  JOURNAL   Hum Mutat 41 (4), 786-799 (2020)
   PUBMED   31898828
  REMARK    GeneRIF: Loss of RAD9B impairs early neural development and
            contributes to the risk for human spina bifida.
            Erratum:[Hum Mutat. 2021 Apr;42(4):487. PMID: 33856736]
REFERENCE   2  (residues 1 to 213)
  AUTHORS   Lyndaker AM, Vasileva A, Wolgemuth DJ, Weiss RS and Lieberman HB.
  TITLE     Clamping down on mammalian meiosis
  JOURNAL   Cell Cycle 12 (19), 3135-3145 (2013)
   PUBMED   24013428
REFERENCE   3  (residues 1 to 213)
  AUTHORS   Perez-Castro AJ and Freire R.
  TITLE     Rad9B responds to nucleolar stress through ATR and JNK signalling,
            and delays the G1-S transition
  JOURNAL   J Cell Sci 125 (Pt 5), 1152-1164 (2012)
   PUBMED   22399810
  REMARK    GeneRIF: Rad9B responds to nucleolar stress after the activation of
            JNK-dependent stress signalling and ATR-dependent DNA damage
            response pathways, and actively accumulates within nucleoli, where
            it does not cause a transcription block.
REFERENCE   4  (residues 1 to 213)
  AUTHORS   Lieberman HB.
  TITLE     Rad9, an evolutionarily conserved gene with multiple functions for
            preserving genomic integrity
  JOURNAL   J Cell Biochem 97 (4), 690-697 (2006)
   PUBMED   16365875
  REMARK    GeneRIF: The encoded mammalian proteins participate in promoting
            resistance to DNA damage, cell cycle checkpoint control, DNA
            repair, and apoptosis.
            Review article
REFERENCE   5  (residues 1 to 213)
  AUTHORS   Dufault VM, Oestreich AJ, Vroman BT and Karnitz LM.
  TITLE     Identification and characterization of RAD9B, a paralog of the RAD9
            checkpoint gene
  JOURNAL   Genomics 82 (6), 644-651 (2003)
   PUBMED   14611806
REFERENCE   6  (residues 1 to 213)
  AUTHORS   Hopkins KM, Wang X, Berlin A, Hang H, Thaker HM and Lieberman HB.
  TITLE     Expression of mammalian paralogues of HRAD9 and Mrad9 checkpoint
            control genes in normal and cancerous testicular tissue
  JOURNAL   Cancer Res 63 (17), 5291-5298 (2003)
   PUBMED   14500360
REFERENCE   7  (residues 1 to 213)
  AUTHORS   Zou L and Elledge SJ.
  TITLE     Sensing DNA damage through ATRIP recognition of RPA-ssDNA complexes
  JOURNAL   Science 300 (5625), 1542-1548 (2003)
   PUBMED   12791985
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC002350.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.89872.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2149178
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..213
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     Protein         1..213
                     /product="cell cycle checkpoint control protein RAD9B
                     isoform i"
                     /EC_number="3.1.11.2"
                     /note="DNA repair exonuclease rad9 homolog B; cell cycle
                     checkpoint control protein RAD9B; RAD9 homolog B"
                     /calculated_mol_wt=23246
     Region          <1..79
                     /region_name="Rad9"
                     /note="pfam04139"
                     /db_xref="CDD:427739"
     CDS             1..213
                     /gene="RAD9B"
                     /coded_by="NM_001368056.1:470..1111"
                     /note="isoform i is encoded by transcript variant 13"
                     /db_xref="GeneID:144715"
                     /db_xref="HGNC:HGNC:21700"
                     /db_xref="MIM:608368"
ORIGIN      
        1 mdlsnavhse mfvgsdefdf fqigmdteit fcfkelkgil tfseathapi siyfdfpgkp
       61 lalsiddmlv eanfilatla deqsrasspq slclsqkrkr sdliekkagk nvtgqaleci
      121 skkaaprrly pketltnisa lencgspamk rvdgdvsevs essvsnteev pgslclrkca
      181 agknlmevmp nisvlsdieq ypplprqpef gve
//
LOCUS       NP_003491                681 aa            linear   PRI 25-DEC-2022
DEFINITION  peroxisomal acyl-coenzyme A oxidase 2 [Homo sapiens].
ACCESSION   NP_003491
VERSION     NP_003491.1
DBSOURCE    REFSEQ: accession NM_003500.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 681)
  AUTHORS   Zhang Q, Zhang Y, Sun S, Wang K, Qian J, Cui Z, Tao T and Zhou J.
  TITLE     ACOX2 is a prognostic marker and impedes the progression of
            hepatocellular carcinoma via PPARalpha pathway
  JOURNAL   Cell Death Dis 12 (1), 15 (2021)
   PUBMED   33414412
  REMARK    GeneRIF: ACOX2 is a prognostic marker and impedes the progression
            of hepatocellular carcinoma via PPARalpha pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 681)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 681)
  AUTHORS   Lisowska M, Pietrucha T and Sakowicz A.
  TITLE     Preeclampsia and Related Cardiovascular Risk: Common Genetic
            Background
  JOURNAL   Curr Hypertens Rep 20 (8), 71 (2018)
   PUBMED   29971632
  REMARK    GeneRIF: ACOX2, physiologically responsible for one of the stages
            in the degradation of branched-chain fatty acids and bile acid, may
            be a possible genetic risk factor linking Preeclampsia and Related
            Cardiovascular diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 681)
  AUTHORS   Monte MJ, Alonso-Pena M, Briz O, Herraez E, Berasain C, Argemi J,
            Prieto J and Marin JJG.
  TITLE     ACOX2 deficiency: An inborn error of bile acid synthesis identified
            in an adolescent with persistent hypertransaminasemia
  JOURNAL   J Hepatol 66 (3), 581-588 (2017)
   PUBMED   27884763
  REMARK    GeneRIF: We have identified by the first time in a young patient
            and his only sister a familiar genetic defect of an enzyme called
            ACOX2, which participates in the transformation of cholesterol into
            bile acids as a cause of increased serum transaminases in the
            absence of any other symptomatology.
REFERENCE   5  (residues 1 to 681)
  AUTHORS   Bjorklund SS, Kristensen VN, Seiler M, Kumar S, Alnaes GI, Ming Y,
            Kerrigan J, Naume B, Sachidanandam R, Bhanot G, Borresen-Dale AL
            and Ganesan S.
  TITLE     Expression of an estrogen-regulated variant transcript of the
            peroxisomal branched chain fatty acid oxidase ACOX2 in breast
            carcinomas
  JOURNAL   BMC Cancer 15, 524 (2015)
   PUBMED   26183823
  REMARK    GeneRIF: Results found an ACOX2 variant present in a subset of
            human breast cancers and associated with improved outcome ER+
            tumors suggesting it as a potential novel therapeutic biomarker in
            ER+ breast tumors.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 681)
  AUTHORS   Moghrabi NN, Naylor SL, Van Veldhoven PP, Baumgart E, Dawson DB and
            Bennett MJ.
  TITLE     Assignment of the human peroxisomal branched-chain acyl-CoA oxidase
            gene to chromosome 3p21.1-p14.2 by rodent/human somatic cell
            hybridization
  JOURNAL   Biochem Biophys Res Commun 231 (3), 767-769 (1997)
   PUBMED   9070889
REFERENCE   7  (residues 1 to 681)
  AUTHORS   Baumgart E, Vanhooren JC, Fransen M, Mannaerts GP and Van Veldhoven
            PP.
  TITLE     Mammalian peroxisomal acyl-CoA oxidases. III. Molecular
            characterization of human branched chain fatty acyl-CoA oxidase
  JOURNAL   Ann N Y Acad Sci 804, 678-679 (1996)
   PUBMED   8993592
REFERENCE   8  (residues 1 to 681)
  AUTHORS   Baumgart E, Vanhooren JC, Fransen M, Marynen P, Puype M,
            Vandekerckhove J, Leunissen JA, Fahimi HD, Mannaerts GP and van
            Veldhoven PP.
  TITLE     Molecular characterization of the human peroxisomal branched-chain
            acyl-CoA oxidase: cDNA cloning, chromosomal assignment, tissue
            distribution, and evidence for the absence of the protein in
            Zellweger syndrome
  JOURNAL   Proc Natl Acad Sci U S A 93 (24), 13748-13753 (1996)
   PUBMED   8943006
REFERENCE   9  (residues 1 to 681)
  AUTHORS   Vanhove GF, Van Veldhoven PP, Fransen M, Denis S, Eyssen HJ,
            Wanders RJ and Mannaerts GP.
  TITLE     The CoA esters of 2-methyl-branched chain fatty acids and of the
            bile acid intermediates di- and trihydroxycoprostanic acids are
            oxidized by one single peroxisomal branched chain acyl-CoA oxidase
            in human liver and kidney
  JOURNAL   J Biol Chem 268 (14), 10335-10344 (1993)
   PUBMED   8387517
REFERENCE   10 (residues 1 to 681)
  AUTHORS   Casteels M, Schepers L, Van Veldhoven PP, Eyssen HJ and Mannaerts
            GP.
  TITLE     Separate peroxisomal oxidases for fatty acyl-CoAs and
            trihydroxycoprostanoyl-CoA in human liver
  JOURNAL   J Lipid Res 31 (10), 1865-1872 (1990)
   PUBMED   2079609
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG698950.1, BC047700.1 and
            AC116036.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The product of this gene belongs to the acyl-CoA oxidase
            family. It encodes the branched-chain acyl-CoA oxidase which is
            involved in the degradation of long branched fatty acids and bile
            acid intermediates in peroxisomes. Deficiency of this enzyme
            results in the accumulation of branched fatty acids and bile acid
            intermediates, and may lead to Zellweger syndrome, severe cognitive
            disability, and death in children. [provided by RefSeq, Mar 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.462859.1,
                                           SRR5189667.126401.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302819.10/ ENSP00000307697.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..681
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.3"
     Protein         1..681
                     /product="peroxisomal acyl-coenzyme A oxidase 2"
                     /EC_number="1.17.99.3"
                     /note="acyl-Coenzyme A oxidase 2, branched chain; THCA-CoA
                     oxidase; trihydroxycoprostanoyl-CoA oxidase; peroxisomal
                     branched chain acyl-CoA oxidase;
                     3-alpha,7-alpha,
                     12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase;
                     3-alpha,7-alpha,
                     12-alpha-trihydroxy-5-beta-cholestanoyl-CoA
                     24-hydroxylase; acyl-CoA oxidase 2, branched chain"
                     /calculated_mol_wt=76696
     Site            3
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97562; propagated from
                     UniProtKB/Swiss-Prot (Q99424.1)"
     Site            9
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q99424.1)"
     Site            13
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q99424.1)"
     Region          20..655
                     /region_name="ACAD"
                     /note="Acyl-CoA dehydrogenase; cl09933"
                     /db_xref="CDD:447864"
     Site            order(121,151,153,191,193,435..437,439,441)
                     /site_type="active"
                     /db_xref="CDD:173838"
     Region          679..681
                     /region_name="Microbody targeting signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99424.1)"
     CDS             1..681
                     /gene="ACOX2"
                     /gene_synonym="BCOX; BRCACOX; BRCOX; CBAS6; THCCox"
                     /coded_by="NM_003500.4:164..2209"
                     /db_xref="CCDS:CCDS33775.1"
                     /db_xref="GeneID:8309"
                     /db_xref="HGNC:HGNC:120"
                     /db_xref="MIM:601641"
ORIGIN      
        1 mgspvhrvsl gdtwsrqmhp dieserymqs fdverltnil dggaqntalr rkvesiihsy
       61 pefsckdnyf mtqnerykaa mrrafhirli arrlgwledg relgyayral sgdvalnihr
      121 vfvralrslg seeqiakwdp lckniqiiat yaqtelghgt ylqgleteat ydaatqefvi
      181 hsptltatkw wpgdlgrsat halvqaqlic sgarrgmhaf ivpirslqdh tplpgiiigd
      241 igpkmdfdqt dngflqlnhv rvprenmlsr faqvlpdgty vklgtaqsny lpmvvvrvel
      301 lsgeilpilq kacviamrys virrqsrlrp sdpeakvldy qtqqqklfpq laisyafhfl
      361 avslleffqh sytailnqdf sflpelhals tgmkammsef ctqgaemcrr acgghgyskl
      421 sglpslvtkl sasctyegen tvlylqvarf lvksylqtqm spgstpqrsl spsvayltap
      481 dlarcpaqra adflcpelyt tawahvavrl ikdsvqhlqt ltqsgadqhe awnqttvihl
      541 qaakvhcyyv tvkgfteale klenepaiqq vlkrlcdlha ihgiltnsgd flhdaflsga
      601 qvdmartayl dllrlirkda illtdafdft dqclnsalgc ydgnvyerlf qwaqksptnt
      661 qenpayeeyi rpllqswrsk l
//
LOCUS       NP_066002                563 aa            linear   PRI 25-DEC-2022
DEFINITION  zinc finger protein 529 isoform a [Homo sapiens].
ACCESSION   NP_066002
VERSION     NP_066002.3
DBSOURCE    REFSEQ: accession NM_020951.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 563)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX503547.1, BC064690.1, AC092295.2 and BC036578.2.
            On Mar 5, 2009 this sequence version replaced NP_066002.2.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.163979.1, BC064690.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000591340.6/ ENSP00000465578.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..563
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     Protein         1..563
                     /product="zinc finger protein 529 isoform a"
                     /calculated_mol_wt=65734
     Region          38..79
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          201..221
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          256..276
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          284..304
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          294..>361
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          312..332
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          336..>408
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          340..360
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          368..388
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(373,375,377,379..380,383..384,387,401,403,407..408,
                     411..412,415,429,431,433,435..436,439..440,443)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          <392..544
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          396..416
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          424..444
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          452..472
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(457,459,461,463..464,467..468,471,485,487,491..492,
                     495..496,499,513,515,517,519..520,523..524,527)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          480..500
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          508..528
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..563
                     /gene="ZNF529"
                     /coded_by="NM_020951.5:200..1891"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS54256.1"
                     /db_xref="GeneID:57711"
                     /db_xref="HGNC:HGNC:29328"
ORIGIN      
        1 manssfigdh vhgaphavmp evefpdqfft vltmdhelvt lrdvvinfsq eeweyldsaq
       61 rnlywdvmme nysnllsldl esrnetkhls vgkdiiqntg sqwevmessk lcglegsifr
      121 ndwqskskid lqgpevgyfs qmkiisenvp sykthesltl prrthdsekp yeykeyekvf
      181 scdlefdeyq kihtggknye cnqcwktfgi dnssmlqlni htgvkpckym eygntcsfyk
      241 dfnvyqkihn ekfykckeyr rtfervgkvt plqrvhdgek hfecsfcgks frvhaqltrh
      301 qkihtdekty kcmecgkdfr fhsqltehqr ihtgekpykc mhcekvfris sqliehqrih
      361 tgekpyacke cgkafgvcre larhqrihtg kkpyeckacg kvfrnssslt rhqrihtgek
      421 pykckeceka fgvgseltrh erihsgqkpy eckecgkffr ltsaliqhqr ihsgekpyec
      481 kvcgkafrhs saltehqrih tgekpyecka cgkafrhsss ftkhqrihtd dkpyeckecg
      541 nsfsvvghlt cqpkiytgek sfd
//
LOCUS       NP_001356677             200 aa            linear   PRI 25-DEC-2022
DEFINITION  integrin beta-1-binding protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001356677 XP_011508718
VERSION     NP_001356677.1
DBSOURCE    REFSEQ: accession NM_001369748.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 200)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 200)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 200)
  AUTHORS   Su VL, Simon B, Draheim KM and Calderwood DA.
  TITLE     Serine phosphorylation of the small phosphoprotein ICAP1 inhibits
            its nuclear accumulation
  JOURNAL   J Biol Chem 295 (10), 3269-3284 (2020)
   PUBMED   32005669
  REMARK    GeneRIF: Serine phosphorylation of the small phosphoprotein ICAP1
            inhibits its nuclear accumulation.
REFERENCE   4  (residues 1 to 200)
  AUTHORS   Draheim KM, Huet-Calderwood C, Simon B and Calderwood DA.
  TITLE     Nuclear Localization of Integrin Cytoplasmic Domain-associated
            Protein-1 (ICAP1) Influences beta1 Integrin Activation and Recruits
            Krev/Interaction Trapped-1 (KRIT1) to the Nucleus
  JOURNAL   J Biol Chem 292 (5), 1884-1898 (2017)
   PUBMED   28003363
  REMARK    GeneRIF: nuclear-cytoplasmic shuttling of ICAP1 influences both
            integrin activation and KRIT1 localization, presumably impacting
            nuclear functions of KRIT1.
REFERENCE   5  (residues 1 to 200)
  AUTHORS   Bouin AP, Kyumurkov A, Regent-Kloeckner M, Ribba AS, Faurobert E,
            Fournier HN, Bourrin-Reynard I, Manet-Dupe S, Oddou C, Balland M,
            Planus E and Albiges-Rizo C.
  TITLE     ICAP-1 monoubiquitylation coordinates matrix density and rigidity
            sensing for cell migration through ROCK2-MRCKalpha balance
  JOURNAL   J Cell Sci 130 (3), 626-636 (2017)
   PUBMED   28049720
  REMARK    GeneRIF: ICAP-1 monoubiquitylation helps in switching from
            ROCK2-mediated to MRCKalpha-mediated cell contractility.
            Erratum:[J Cell Sci. 2017 Mar 15;130(6):1195. PMID: 28298614]
REFERENCE   6  (residues 1 to 200)
  AUTHORS   Chang DD, Hoang BQ, Liu J and Springer TA.
  TITLE     Molecular basis for interaction between Icap1 alpha PTB domain and
            beta 1 integrin
  JOURNAL   J Biol Chem 277 (10), 8140-8145 (2002)
   PUBMED   11741908
  REMARK    GeneRIF: Site-directed mutagenesis showed that Leu(135), Ile(138),
            and Ile(139) of Icap1 alpha, and Leu(82) and Tyr(144), are required
            for the Icap1 alpha-beta(1) integrin interaction
REFERENCE   7  (residues 1 to 200)
  AUTHORS   Zhang J, Clatterbuck RE, Rigamonti D, Chang DD and Dietz HC.
  TITLE     Interaction between krit1 and icap1alpha infers perturbation of
            integrin beta1-mediated angiogenesis in the pathogenesis of
            cerebral cavernous malformation
  JOURNAL   Hum Mol Genet 10 (25), 2953-2960 (2001)
   PUBMED   11741838
REFERENCE   8  (residues 1 to 200)
  AUTHORS   Gotthardt M, Trommsdorff M, Nevitt MF, Shelton J, Richardson JA,
            Stockinger W, Nimpf J and Herz J.
  TITLE     Interactions of the low density lipoprotein receptor gene family
            with cytosolic adaptor and scaffold proteins suggest diverse
            biological functions in cellular communication and signal
            transduction
  JOURNAL   J Biol Chem 275 (33), 25616-25624 (2000)
   PUBMED   10827173
REFERENCE   9  (residues 1 to 200)
  AUTHORS   Bouvard D and Block MR.
  TITLE     Calcium/calmodulin-dependent protein kinase II controls integrin
            alpha5beta1-mediated cell adhesion through the integrin cytoplasmic
            domain associated protein-1alpha
  JOURNAL   Biochem Biophys Res Commun 252 (1), 46-50 (1998)
   PUBMED   9813144
REFERENCE   10 (residues 1 to 200)
  AUTHORS   Chang DD, Wong C, Smith H and Liu J.
  TITLE     ICAP-1, a novel beta1 integrin cytoplasmic domain-associated
            protein, binds to a conserved and functionally important NPXY
            sequence motif of beta1 integrin
  JOURNAL   J Cell Biol 138 (5), 1149-1157 (1997)
   PUBMED   9281591
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC080162.7.
            On Apr 17, 2019 this sequence version replaced XP_011508718.1.
            
            Summary: The cytoplasmic domains of integrins are essential for
            cell adhesion. The protein encoded by this gene binds to the beta1
            integrin cytoplasmic domain. The interaction between this protein
            and beta1 integrin is highly specific. Two isoforms of this protein
            are derived from alternatively spliced transcripts. The shorter
            form of this protein does not interact with the beta1 integrin
            cytoplasmic domain. The longer form is a phosphoprotein and the
            extent of its phosphorylation is regulated by the cell-matrix
            interaction, suggesting an important role of this protein during
            integrin-dependent cell adhesion. Several transcript variants, some
            protein-coding and some non-protein coding, have been found for
            this gene. [provided by RefSeq, Jan 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.445183.1,
                                           SRR1803617.116968.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..200
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.1"
     Protein         1..200
                     /product="integrin beta-1-binding protein 1 isoform 1"
                     /note="integrin cytoplasmic domain-associated protein
                     1-beta; integrin cytoplasmic domain-associated protein
                     1-alpha; bodenin; integrin beta-1-binding protein 1"
                     /calculated_mol_wt=21651
     Region          1..200
                     /region_name="ICAP-1_inte_bdg"
                     /note="Beta-1 integrin binding protein; pfam10480"
                     /db_xref="CDD:119000"
     Region          1..56
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14713.1)"
     Region          6..7
                     /region_name="Nuclear localization signal"
                     /note="propagated from UniProtKB/Swiss-Prot (O14713.1)"
     Site            38
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CaMK2.
                     /evidence=ECO:0000269|PubMed:9813144; propagated from
                     UniProtKB/Swiss-Prot (O14713.1)"
     Site            41
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35671; propagated from
                     UniProtKB/Swiss-Prot (O14713.1)"
     Site            order(66,153,173)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269985"
     Region          136..139
                     /region_name="Interaction with KRIT1"
                     /note="propagated from UniProtKB/Swiss-Prot (O14713.1)"
     Site            order(139..144,160,184,188)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269985"
     Region          139..141
                     /region_name="Interaction with ITGB1"
                     /note="propagated from UniProtKB/Swiss-Prot (O14713.1)"
     CDS             1..200
                     /gene="ITGB1BP1"
                     /gene_synonym="ICAP-1A; ICAP-1alpha; ICAP-1B; ICAP1;
                     ICAP1A; ICAP1B"
                     /coded_by="NM_001369748.1:522..1124"
                     /note="isoform 1 is encoded by transcript variant 19"
                     /db_xref="CCDS:CCDS1662.1"
                     /db_xref="GeneID:9270"
                     /db_xref="HGNC:HGNC:23927"
                     /db_xref="MIM:607153"
ORIGIN      
        1 mfrkgkkrhs ssssqsseis tksksvdssl gglsrsstva sldtdstkss gqsnnnsdtc
       61 aefrikyvga ieklklsegk glegpldlin yidvaqqdgk lpfvppeeef imgvskygik
      121 vstsdqydvl hrhalyliir mvcyddglga gksllalktt dasneeyslw vyqcnsleqa
      181 qaickvlsta fdsvltsekp
//
LOCUS       NP_001166995             538 aa            linear   PRI 26-DEC-2022
DEFINITION  RNA-binding protein RO60 isoform 2 [Homo sapiens].
ACCESSION   NP_001166995
VERSION     NP_001166995.1
DBSOURCE    REFSEQ: accession NM_001173524.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 538)
  AUTHORS   Song Y, Wei F, Liu Y, Han F, Ma L, Zhuang Y, Pan C, Jia Z and Gong
            A.
  TITLE     IL-33/ST2 Activation Is involved in Ro60-Regulated Photosensitivity
            in Cutaneous Lupus Erythematosus
  JOURNAL   Mediators Inflamm 2022, 4955761 (2022)
   PUBMED   35909659
  REMARK    GeneRIF: IL-33/ST2 Activation Is involved in Ro60-Regulated
            Photosensitivity in Cutaneous Lupus Erythematosus.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 538)
  AUTHORS   Lee AYS, Beroukas D, Brown L, Lucchesi C, Kaur A, Gyedu L, Hughes
            N, Ng YH, Saran O, Gordon TP and Wang JJ.
  TITLE     Identification of a unique anti-Ro60 subset with restricted
            serological and molecular profiles
  JOURNAL   Clin Exp Immunol 203 (1), 13-21 (2021)
   PUBMED   32852779
  REMARK    GeneRIF: Identification of a unique anti-Ro60 subset with
            restricted serological and molecular profiles.
REFERENCE   3  (residues 1 to 538)
  AUTHORS   Leng Y, Sim S, Magidson V and Wolin SL.
  TITLE     Noncoding Y RNAs regulate the levels, subcellular distribution and
            protein interactions of their Ro60 autoantigen partner
  JOURNAL   Nucleic Acids Res 48 (12), 6919-6930 (2020)
   PUBMED   32469055
  REMARK    GeneRIF: Noncoding Y RNAs regulate the levels, subcellular
            distribution and protein interactions of their Ro60 autoantigen
            partner.
REFERENCE   4  (residues 1 to 538)
  AUTHORS   Chen S, Zhao Y, Jin H, Qi X, He J, Huang J, Ding Y, Chen W, Wu C,
            Ding X, Chen S, Zhang H, Shang Y, Du D and Zhao J.
  TITLE     TROVE2 strengthens the anti-inflammatory effect via macrophage
            polarization by estrogen induction in abdominal aortic aneurysm
  JOURNAL   Life Sci 242, 117207 (2020)
   PUBMED   31863777
  REMARK    GeneRIF: strengthens the anti-inflammatory effect via macrophage
            polarization by estrogen induction in abdominal aortic aneurysm
REFERENCE   5  (residues 1 to 538)
  AUTHORS   Barcellos KS, Nonogaki S, Enokihara MM, Teixeira MS and Andrade LE.
  TITLE     Differential expression of Ro/SSA 60 kDa and La/SSB, but not Ro/SSA
            52 kDa, mRNA and protein in minor salivary glands from patients
            with primary Sjogren's syndrome
  JOURNAL   J Rheumatol 34 (6), 1283-1292 (2007)
   PUBMED   17552056
  REMARK    GeneRIF: Increased Ro/SSA 60 and La/SSB mRNA expression in minor
            salivary glands in primary Sjogren's syndrome (pSS) suggest that
            these 2 autoantigens, but not Ro/SSA 52, are involved in
            tissue-specific autoimmune response in pSS.
REFERENCE   6  (residues 1 to 538)
  AUTHORS   Pruijn GJ, Slobbe RL and van Venrooij WJ.
  TITLE     Analysis of protein--RNA interactions within Ro ribonucleoprotein
            complexes
  JOURNAL   Nucleic Acids Res 19 (19), 5173-5180 (1991)
   PUBMED   1833722
REFERENCE   7  (residues 1 to 538)
  AUTHORS   Jitsukawa T, Nakajima S, Usui J and Watanabe H.
  TITLE     Detection of anti-nuclear antibodies from patients with systemic
            rheumatic diseases by ELISA using HEp-2 cell nuclei
  JOURNAL   J Clin Lab Anal 5 (1), 49-53 (1991)
   PUBMED   1999763
REFERENCE   8  (residues 1 to 538)
  AUTHORS   James JA, Dickey WD, Fujisaku A, O'Brien CA, Deutscher SL, Keene JD
            and Harley JB.
  TITLE     Antigenicity of a recombinant Ro (SS-A) fusion protein
  JOURNAL   Arthritis Rheum 33 (1), 102-106 (1990)
   PUBMED   1689160
REFERENCE   9  (residues 1 to 538)
  AUTHORS   Ben-Chetrit E, Gandy BJ, Tan EM and Sullivan KF.
  TITLE     Isolation and characterization of a cDNA clone encoding the 60-kD
            component of the human SS-A/Ro ribonucleoprotein autoantigen
  JOURNAL   J Clin Invest 83 (4), 1284-1292 (1989)
   PUBMED   2649513
REFERENCE   10 (residues 1 to 538)
  AUTHORS   Deutscher SL, Harley JB and Keene JD.
  TITLE     Molecular analysis of the 60-kDa human Ro ribonucleoprotein
  JOURNAL   Proc Natl Acad Sci U S A 85 (24), 9479-9483 (1988)
   PUBMED   3200833
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL136370.4, AK314594.1, M25077.1 and BC036658.2.
            
            Transcript Variant: This variant (5) differs in the 5' UTR, the 3'
            coding region and the 3' UTR, compared to variant 1. The resulting
            isoform (2) has a distinct C-terminus and is longer than isoform 1.
            Variants 2 and 5 encode the same isoform (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.170185.1,
                                           SRR1660803.201087.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000400968.7/ ENSP00000383752.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..538
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.2"
     Protein         1..538
                     /product="RNA-binding protein RO60 isoform 2"
                     /note="Sjogren syndrome antigen A2 (60kD,
                     ribonucleoprotein autoantigen SS-A/Ro); gastric cancer
                     multi-drug resistance protein; TROVE domain family member
                     2; 60 kDa ribonucleoprotein Ro; sjoegren syndrome type A
                     antigen; Ro/SSA 60kDa; ro60 autoantigen; RNA-binding
                     protein RO60"
                     /calculated_mol_wt=60540
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.9,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895;
                     propagated from UniProtKB/Swiss-Prot (P10155.2)"
     Site            4
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P10155.2)"
     Region          17..369
                     /region_name="TROVE"
                     /note="TROVE domain; pfam05731"
                     /db_xref="CDD:428607"
     Site            19
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P10155.2)"
     Region          120..284
                     /region_name="RNA-binding. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P10155.2)"
     Site            224
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P10155.2)"
     Site            359
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P10155.2)"
     Region          361..538
                     /region_name="VWFA-like domain. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P10155.2)"
     Region          372..489
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Site            order(376,445,469)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238119"
     CDS             1..538
                     /gene="RO60"
                     /gene_synonym="RORNP; SSA2; TROVE2"
                     /coded_by="NM_001173524.2:187..1803"
                     /note="isoform 2 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS1379.1"
                     /db_xref="GeneID:6738"
                     /db_xref="HGNC:HGNC:11313"
                     /db_xref="MIM:600063"
ORIGIN      
        1 meesvnqmqp lnekqiansq dgyvwqvtdm nrlhrflcfg seggtyyike qklglenaea
       61 lirliedgrg ceviqeiksf sqegrttkqe pmlfalaics qcsdistkqa afkavsevcr
      121 ipthlftfiq fkkdlkesmk cgmwgralrk aiadwynekg gmalalavtk ykqrngwshk
      181 dllrlshlkp sseglaivtk yitkgwkevh elykekalsv etekllkyle avekvkrtrd
      241 elevihliee hrlvrehllt nhlkskevwk allqemplta llrnlgkmta nsvlepgnse
      301 vslvceklcn ekllkkarih pfhilialet yktghglrgk lkwrpdeeil kaldaafykt
      361 fktveptgkr fllavdvsas mnqrvlgsil nastvaaamc mvvtrtekds yvvafsdemv
      421 pcpvttdmtl qqvlmamsqi paggtdcslp miwaqktntp advfivftdn etfaggvhpa
      481 ialreyrkkm dipaklivcg mtsngftiad pddrgmldmc gfdtgaldvi rnftldmi
//
LOCUS       NP_001269919             199 aa            linear   PRI 26-DEC-2022
DEFINITION  dehydrogenase/reductase SDR family member 4 isoform 5 [Homo
            sapiens].
ACCESSION   NP_001269919 XP_005267333
VERSION     NP_001269919.1
DBSOURCE    REFSEQ: accession NM_001282990.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 199)
  AUTHORS   Zhou Y, Li K, Zou X, Hua Z, Wang H, Bian W, Wang H, Chen F and Dai
            T.
  TITLE     LncRNA DHRS4-AS1 ameliorates hepatocellular carcinoma by
            suppressing proliferation and promoting apoptosis via
            miR-522-3p/SOCS5 axis
  JOURNAL   Bioengineered 12 (2), 10862-10877 (2021)
   PUBMED   34666613
  REMARK    GeneRIF: LncRNA DHRS4-AS1 ameliorates hepatocellular carcinoma by
            suppressing proliferation and promoting apoptosis via
            miR-522-3p/SOCS5 axis.
REFERENCE   2  (residues 1 to 199)
  AUTHORS   Su Z, Liu G, Song X, Liang B, Chang X and Huang D.
  TITLE     CpG island evolution in the mammalian DHRS4 gene cluster and its
            role in the regulation of gene transcription
  JOURNAL   Genet Mol Res 15 (2) (2016)
   PUBMED   27323117
  REMARK    GeneRIF: An analysis of the relationship between the promoter
            characteristics and RNA expression of the DHRS4 gene cluster
            indicated that the development of CpG islands, in addition to the
            promoter sequence, during mammalian evolution could modulate the
            dose compensatory regulation of the copy number-varied DHRS4 gene
            cluster
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 199)
  AUTHORS   Yang Y, Su Z, Song X, Liang B, Zeng F, Chang X and Huang D.
  TITLE     Enhancer RNA-driven looping enhances the transcription of the long
            noncoding RNA DHRS4-AS1, a controller of the DHRS4 gene cluster
  JOURNAL   Sci Rep 6, 20961 (2016)
   PUBMED   26864944
  REMARK    GeneRIF: AS1eRNA-driven DNA looping and activating histone
            modifications promote the expression of DHRS4-AS1 to economically
            control the DHRS4 gene cluster.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 199)
  AUTHORS   Gabrielli F and Tofanelli S.
  TITLE     Molecular and functional evolution of human DHRS2 and DHRS4
            duplicated genes
  JOURNAL   Gene 511 (2), 461-469 (2012)
   PUBMED   23036705
  REMARK    GeneRIF: DHRS2 and DHRS4 genes are syntenic outparalogues
            originating from a duplication of the DHRS4 gene that took place
            before the formation of the mammalian clade
            GeneRIF: A rapid evolution rate brought the human DHRS2 gene,
            duplicated form of the DHRS4 one, to code a SDR enzyme having
            subcellular localization, synthesis regulation and specialized
            cellular functions very different from those of the human DHRS4
            enzyme.
REFERENCE   5  (residues 1 to 199)
  AUTHORS   Yan Y, Song X, Liu G, Su Z, Du Y, Sui X, Chang X and Huang D.
  TITLE     Human NRDRB1, an alternatively spliced isoform of NADP(H)-dependent
            retinol dehydrogenase/reductase enhanced enzymatic activity of
            benzil
  JOURNAL   Cell Physiol Biochem 30 (6), 1371-1382 (2012)
   PUBMED   23128527
  REMARK    GeneRIF: NRDRB1, an alternatively spliced isoform of NRDR in vivo
            functions better than NRDR as a dicarbonyl reductase for
            xenobiotics containing reactive carbonyls.
REFERENCE   6  (residues 1 to 199)
  AUTHORS   Matsunaga T, Endo S, Maeda S, Ishikura S, Tajima K, Tanaka N,
            Nakamura KT, Imamura Y and Hara A.
  TITLE     Characterization of human DHRS4: an inducible short-chain
            dehydrogenase/reductase enzyme with 3beta-hydroxysteroid
            dehydrogenase activity
  JOURNAL   Arch Biochem Biophys 477 (2), 339-347 (2008)
   PUBMED   18571493
  REMARK    GeneRIF: Results suggest a novel mechanism of cold inactivation and
            role of the inducible human DHRS4 in 3beta-hydroxysteroid synthesis
            and xenobiotic carbonyl metabolism
REFERENCE   7  (residues 1 to 199)
  AUTHORS   Song XH, Liang B, Liu GF, Li R, Xie JP, Du K and Huang DY.
  TITLE     Expression of a novel alternatively spliced variant of
            NADP(H)-dependent retinol dehydrogenase/reductase with deletion of
            exon 3 in cervical squamous carcinoma
  JOURNAL   Int J Cancer 120 (8), 1618-1626 (2007)
   PUBMED   17230527
  REMARK    GeneRIF: Alternatively spliced variant of NADP(H)-dependent retinol
            dehydrogenase/reductase with deletion of exon 3 is associated with
            cervical squamous carcinoma
REFERENCE   8  (residues 1 to 199)
  AUTHORS   Du J, Huang DY, Liu GF, Wang GL, Xu XL, Wang B and Zhu L.
  TITLE     CDNA cloning of a short isoform of human liver NADP (H) -dependent
            retinol dehydrogenase/reductase and analysis of its characteristics
  JOURNAL   Yi Chuan Xue Bao 31 (7), 661-667 (2004)
   PUBMED   15473316
REFERENCE   9  (residues 1 to 199)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Behal A, Touchman JW, Bouffard G,
            Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and
            splice variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 199)
  AUTHORS   Fransen M, Van Veldhoven PP and Subramani S.
  TITLE     Identification of peroxisomal proteins by using M13 phage protein
            VI phage display: molecular evidence that mammalian peroxisomes
            contain a 2,4-dienoyl-CoA reductase
  JOURNAL   Biochem J 340 (Pt 2) (Pt 2), 561-568 (1999)
   PUBMED   10333503
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP366505.1, DQ338571.1, AA293161.1 and CA438339.1.
            On Sep 24, 2013 this sequence version replaced XP_005267333.1.
            
            Transcript Variant: This variant (5) lacks two alternate coding
            exons, but maintains the reading frame, compared to variant 1. The
            encoded isoform (5) is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ338571.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..199
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     Protein         1..199
                     /product="dehydrogenase/reductase SDR family member 4
                     isoform 5"
                     /EC_number="1.1.1.184"
                     /note="peroxisomal short-chain alcohol dehydrogenase;
                     short chain dehydrogenase/reductase family 25C, member 1;
                     short chain dehydrogenase/reductase family 25C member 2;
                     NADPH-dependent retinol dehydrogenase/reductase;
                     NADPH-dependent carbonyl reductase;
                     dehydrogenase/reductase (SDR family) member 4 like 2A;
                     short-chain dehydrogenase/reductase family member 4;
                     NADPH-dependent carbonyl reductase/NADP-retinol
                     dehydrogenase"
                     /calculated_mol_wt=20905
     Region          23..199
                     /region_name="NADB_Rossmann"
                     /note="Rossmann-fold NAD(P)(+)-binding proteins; cl21454"
                     /db_xref="CDD:451247"
     CDS             1..199
                     /gene="DHRS4"
                     /gene_synonym="CR; NRDR; PHCR; PSCD; SCAD-SRL; SDR-SRL;
                     SDR25C1; SDR25C2"
                     /coded_by="NM_001282990.2:20..619"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS61411.1"
                     /db_xref="GeneID:10901"
                     /db_xref="HGNC:HGNC:16985"
                     /db_xref="MIM:611596"
ORIGIN      
        1 mhkagllglc arawnsvrma ssgmtrrdpl ankvalvtas tdgigfaiar rlaqdgahvv
       61 vssrkqqnvd qavatlqgeg lsvtgtvchv gkaedrerlv attldinvka palmtkavvp
      121 emekrgggsv vivssiaafs psplwmdkek eesmketlri rrlgepedca givsflcsed
      181 asyitgetvv vgggtpsrl
//
LOCUS       NP_001273294             803 aa            linear   PRI 27-DEC-2022
DEFINITION  MAP7 domain-containing protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001273294 XP_005271085
VERSION     NP_001273294.1
DBSOURCE    REFSEQ: accession NM_001286365.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 803)
  AUTHORS   Wu SL, Zhang X, Chang M, Huang C, Qian J, Li Q, Yuan F, Sun L, Yu
            X, Cui X, Jiang J, Cui M, Liu Y, Wu HW, Liang ZY, Wang X, Niu Y,
            Tong WM and Jin F.
  TITLE     Genome-wide 5-Hydroxymethylcytosine Profiling Analysis Identifies
            MAP7D1 as A Novel Regulator of Lymph Node Metastasis in Breast
            Cancer
  JOURNAL   Genomics Proteomics Bioinformatics 19 (1), 64-79 (2021)
   PUBMED   33716151
  REMARK    GeneRIF: Genome-wide 5-Hydroxymethylcytosine Profiling Analysis
            Identifies MAP7D1 as A Novel Regulator of Lymph Node Metastasis in
            Breast Cancer.
REFERENCE   2  (residues 1 to 803)
  AUTHORS   Hooikaas PJ, Martin M, Muhlethaler T, Kuijntjes GJ, Peeters CAE,
            Katrukha EA, Ferrari L, Stucchi R, Verhagen DGF, van Riel WE,
            Grigoriev I, Altelaar AFM, Hoogenraad CC, Rudiger SGD, Steinmetz
            MO, Kapitein LC and Akhmanova A.
  TITLE     MAP7 family proteins regulate kinesin-1 recruitment and activation
  JOURNAL   J Cell Biol 218 (4), 1298-1318 (2019)
   PUBMED   30770434
  REMARK    GeneRIF: MAP7 proteins are microtubule-tethered kinesin-1
            activators, with which the motor transiently interacts as it moves
            along microtubules.
REFERENCE   3  (residues 1 to 803)
  AUTHORS   Kikuchi K, Nakamura A, Arata M, Shi D, Nakagawa M, Tanaka T, Uemura
            T, Fujimori T, Kikuchi A, Uezu A, Sakamoto Y and Nakanishi H.
  TITLE     Map7/7D1 and Dvl form a feedback loop that facilitates microtubule
            remodeling and Wnt5a signaling
  JOURNAL   EMBO Rep 19 (7) (2018)
   PUBMED   29880710
  REMARK    GeneRIF: Here we show that in HeLa cells, the paralogous
            MT-associated proteins Map7 and Map7D1 (Map7/7D1) form an
            interdependent regulatory loop with Disheveled, the critical signal
            transducer in Wnt signaling
REFERENCE   4  (residues 1 to 803)
  AUTHORS   Agrawal P, Yu K, Salomon AR and Sedivy JM.
  TITLE     Proteomic profiling of Myc-associated proteins
  JOURNAL   Cell Cycle 9 (24), 4908-4921 (2010)
   PUBMED   21150319
REFERENCE   5  (residues 1 to 803)
  AUTHORS   Kleiderlein JJ, Nisson PE, Jessee J, Li WB, Becker KG, Derby ML,
            Ross CA and Margolis RL.
  TITLE     CCG repeats in cDNAs from human brain
  JOURNAL   Hum Genet 103 (6), 666-673 (1998)
   PUBMED   9921901
  REMARK    Erratum:[Hum Genet 1999 Jan;104(1):113]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB033013.2, AC114484.2 and AF218002.1.
            On Nov 2, 2013 this sequence version replaced XP_005271085.1.
            
            Transcript Variant: This variant (2) lacks an in-frame exon and
            uses an alternate splice site compared to variant 1. The encoded
            isoform (2) ishorter than isofoem 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC057293.1, AB033013.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..803
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     Protein         1..803
                     /product="MAP7 domain-containing protein 1 isoform 2"
                     /note="proline arginine rich coiled coil 1;
                     arginine/proline rich coiled-coil 1; MAP7
                     domain-containing protein 1; arginine/proline-rich
                     coiled-coil domain-containing protein 1;
                     proline/arginine-rich coiled-coil domain-containing
                     protein 1"
                     /calculated_mol_wt=88595
     Region          <56..>143
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     Region          <130..>221
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          <278..558
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          551..689
                     /region_name="MAP7"
                     /note="MAP7 (E-MAP-115) family; pfam05672"
                     /db_xref="CDD:428577"
     CDS             1..803
                     /gene="MAP7D1"
                     /gene_synonym="PARCC1; RPRC1"
                     /coded_by="NM_001286365.2:259..2670"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS65493.1"
                     /db_xref="GeneID:55700"
                     /db_xref="HGNC:HGNC:25514"
ORIGIN      
        1 mesgpraelg agappavvar tppeprpspe gdpspppppm salvpdtppd tppamknats
       61 skqlplepes psgqvgprpa ppqeespsse aksrgptppa mgprdarppr rssqpsptav
      121 pasdspptkq evkkagerhk lakerreera kylaakkavw lekeekakal rekqlqerrr
      181 rleeqrlkae qrraaleerq rqkleknker yeaaiqrsvk ktwaeirqqr wswagalhhs
      241 spghktnrsl qlsawessiv drlmtptlsf larsrsavtl prngrdqgrg cdpgrgptwg
      301 ragaslargp qpdrthpsaa vpvcprsasa spltpcsvtr svhrcapage rgerrkpnag
      361 gspapvrrrp easpvqkkek kdkereneke ksalarersl kkrqslpasp rarlsastas
      421 elspkskarp sspstswhrp aspcpspgpg htlppkppsp rgttaspkgr vrrkeeakes
      481 psaagpedks qskrrasnek esaapaspap spapsptpap pqkeqppaet ptdaavltsp
      541 papappvtps kpmagttdre eatrllaekr rqareqrere eqerrlqaer dkrmreeqla
      601 reaearaere aearrreeqe arekaqaeqe eqerlqkqke eaearsreea erqrlerekh
      661 fqqqeqerqe rrkrleeimk rtrksevset kkqdskeana ngsspepvka vearspglqk
      721 eavqkeepip qepqwslpsk elpaslvngl qplpahqeng fstngpsgdk slsrtpetll
      781 pfaeaeaflk kavvqspqvt evl
//
LOCUS       NP_001171555             805 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger X-chromosomal protein isoform 1 [Homo sapiens].
ACCESSION   NP_001171555
VERSION     NP_001171555.1
DBSOURCE    REFSEQ: accession NM_001178084.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 805)
  AUTHORS   Zhou Y, Ma G, Peng S, Tuo M, Li Y, Qin X, Yu Q, Kuang S, Cheng H
            and Li J.
  TITLE     Circ_0000520 contributes to triple-negative breast cancer
            progression through mediating the miR-1296/ZFX axis
  JOURNAL   Thorac Cancer 12 (18), 2427-2438 (2021)
   PUBMED   34324278
  REMARK    GeneRIF: Circ_0000520 contributes to triple-negative breast cancer
            progression through mediating the miR-1296/ZFX axis.
REFERENCE   2  (residues 1 to 805)
  AUTHORS   Yang D, Ma X, Xu J, Jia K, Liu X and Zhang P.
  TITLE     Zfx-induced upregulation of UBE2J1 facilitates endometrial cancer
            progression via PI3K/AKT pathway
  JOURNAL   Cancer Biol Ther 22 (3), 238-247 (2021)
   PUBMED   33632059
  REMARK    GeneRIF: Zfx-induced upregulation of UBE2J1 facilitates endometrial
            cancer progression via PI3K/AKT pathway.
REFERENCE   3  (residues 1 to 805)
  AUTHORS   Ni W, Perez AA, Schreiner S, Nicolet CM and Farnham PJ.
  TITLE     Characterization of the ZFX family of transcription factors that
            bind downstream of the start site of CpG island promoters
  JOURNAL   Nucleic Acids Res 48 (11), 5986-6000 (2020)
   PUBMED   32406922
  REMARK    GeneRIF: Characterization of the ZFX family of transcription
            factors that bind downstream of the start site of CpG island
            promoters.
REFERENCE   4  (residues 1 to 805)
  AUTHORS   Wu J, Wei B, Shi Y, Lu X, Ding Y, Wang C and Li Y.
  TITLE     Homoharringtonine enhances the effect of imatinib on chronic
            myelogenous leukemia cells by downregulating ZFX
  JOURNAL   Mol Med Rep 20 (4), 3233-3239 (2019)
   PUBMED   31432109
  REMARK    GeneRIF: Homoharringtonine may enhance the effect of imatinib on
            chronic myelogenous leukemia cells by downregulating ZFX.
REFERENCE   5  (residues 1 to 805)
  AUTHORS   Han C, Li X, Fan Q, Liu G and Yin J.
  TITLE     CCAT1 promotes triple-negative breast cancer progression by
            suppressing miR-218/ZFX signaling
  JOURNAL   Aging (Albany NY) 11 (14), 4858-4875 (2019)
   PUBMED   31310241
  REMARK    GeneRIF: Our data indicate that CCAT1 promotes triple-negative
            breast cancer progression by targeting the miR-218/ZFX axis
REFERENCE   6  (residues 1 to 805)
  AUTHORS   North M, Sargent C, O'Brien J, Taylor K, Wolfe J, Affara NA and
            Ferguson-Smith MA.
  TITLE     Comparison of ZFY and ZFX gene structure and analysis of
            alternative 3' untranslated regions of ZFY
  JOURNAL   Nucleic Acids Res 19 (10), 2579-2586 (1991)
   PUBMED   2041734
REFERENCE   7  (residues 1 to 805)
  AUTHORS   Palmer MS, Berta P, Sinclair AH, Pym B and Goodfellow PN.
  TITLE     Comparison of human ZFY and ZFX transcripts
  JOURNAL   Proc Natl Acad Sci U S A 87 (5), 1681-1685 (1990)
   PUBMED   2308929
REFERENCE   8  (residues 1 to 805)
  AUTHORS   Mardon G, Luoh SW, Simpson EM, Gill G, Brown LG and Page DC.
  TITLE     Mouse Zfx protein is similar to Zfy-2: each contains an acidic
            activating domain and 13 zinc fingers
  JOURNAL   Mol Cell Biol 10 (2), 681-688 (1990)
   PUBMED   2105457
REFERENCE   9  (residues 1 to 805)
  AUTHORS   Schneider-Gadicke A, Beer-Romero P, Brown LG, Nussbaum R and Page
            DC.
  TITLE     ZFX has a gene structure similar to ZFY, the putative human sex
            determinant, and escapes X inactivation
  JOURNAL   Cell 57 (7), 1247-1258 (1989)
   PUBMED   2500252
REFERENCE   10 (residues 1 to 805)
  AUTHORS   Muller G and Schempp W.
  TITLE     Mapping the human ZFX locus to Xp21.3 by in situ hybridization
  JOURNAL   Hum Genet 82 (1), 82-84 (1989)
   PUBMED   2497060
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA995443.1, X59739.1,
            AB209892.1 and AC002404.1.
            
            Summary: This gene on the X chromosome is structurally similar to a
            related gene on the Y chromosome. It encodes a member of the
            krueppel C2H2-type zinc-finger protein family. The full-length
            protein contains an acidic transcriptional activation domain (AD),
            a nuclear localization sequence (NLS) and a DNA binding domain
            (DBD) consisting of 13 C2H2-type zinc fingers. Studies in mouse
            embryonic and adult hematopoietic stem cells showed that this gene
            was required as a transcriptional regulator for self-renewal of
            both stem cell types, but it was dispensable for growth and
            differentiation of their progeny. Multiple alternatively spliced
            transcript variants encoding different isoforms have been
            identified, but the full-length nature of some variants has not
            been determined. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (2) lacks two exons in the 5' UTR,
            as compared to variant 1. Variants 1, 2, and 3 encode the same
            isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.31741.1,
                                           SRR14038194.3139984.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..805
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.11"
     Protein         1..805
                     /product="zinc finger X-chromosomal protein isoform 1"
                     /note="zinc finger X-chromosomal protein; X-linked zinc
                     finger protein"
                     /calculated_mol_wt=90391
     Region          70..410
                     /region_name="Zfx_Zfy_act"
                     /note="Zfx / Zfy transcription activation region;
                     pfam04704"
                     /db_xref="CDD:428075"
     Site            274
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P17012; propagated from
                     UniProtKB/Swiss-Prot (P17010.2)"
     Region          <377..>457
                     /region_name="ROS_MUCR"
                     /note="ROS/MUCR transcriptional regulator protein;
                     cl19880"
                     /db_xref="CDD:450395"
     Region          427..447
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          458..482
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          490..510
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(495,497,499,501..502,505..506,509,555,557,561..562,
                     565..566,569,583,585,587,589..590,593..594,597)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          543..>805
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          550..570
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          578..597
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          635..656
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          664..684
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          721..741
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(726,728,730,732..733,736..737,740,754,756,760..761,
                     764..765,769,783,785,787,789..790,793..794,797)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          749..770
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          778..798
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..805
                     /gene="ZFX"
                     /gene_synonym="ZNF926"
                     /coded_by="NM_001178084.2:95..2512"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS14211.1"
                     /db_xref="GeneID:7543"
                     /db_xref="HGNC:HGNC:12869"
                     /db_xref="MIM:314980"
ORIGIN      
        1 mdedglelqq epnsffdatg adgthmdgdq ivvevqetvf vsdvvdsdit vhnfvpddpd
       61 svviqdvied vviedvqcpd imeeadvset viipeqvlds dvteevslah ctvpddvlas
      121 ditsasmsmp ehvltgdsih vsdvghvghv ghvehvvhds vveaeivtdp lttdvvseev
      181 lvadcaseav idangipvdq qdddkgnced ylmislddag kiehdgssgm tmdteseidp
      241 ckvdgtcpev ikvyifkadp geddlggtvd ivesependh gvelldqnss irvprekmvy
      301 mtvndsqped edlnvaeiad evymevivge edaaaaaaaa avheqqmddn eiktfmpiaw
      361 aaaygnnsdg ienrngtasa llhidesagl grlakqkpkk rrrpdsrqyq taiiigpdgh
      421 pltvypcmic gkkfksrgfl krhmknhpeh lakkkyrctd cdyttnkkis lhnhleshkl
      481 tskaekaiec decgkhfsha galfthkmvh kekgankmhk ckfceyetae qgllnrhlla
      541 vhsknfphic vecgkgfrhp selkkhmrih tgekpyqcqy ceyrsadssn lkthvktkhs
      601 kempfkcdic lltfsdtkev qqhalihqes kthqclhcdh kssnssdlkr hiisvhtkdy
      661 phkcdmcdkg fhrpselkkh vaahkgkkmh qcrhcdfkia dpfvlsrhil svhtkdlpfr
      721 ckrcrkgfrq qselkkhmkt hsgrkvyqce yceysttdas gfkrhvisih tkdyphrcey
      781 ckkgfrrpse knqhimrhhk evglp
//
LOCUS       NP_006434                174 aa            linear   PRI 27-DEC-2022
DEFINITION  2'-deoxynucleoside 5'-phosphate N-hydrolase 1 isoform 1 [Homo
            sapiens].
ACCESSION   NP_006434
VERSION     NP_006434.1
DBSOURCE    REFSEQ: accession NM_006443.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 174)
  AUTHORS   Fugger K, Bajrami I, Silva Dos Santos M, Young SJ, Kunzelmann S,
            Kelly G, Hewitt G, Patel H, Goldstone R, Carell T, Boulton SJ,
            MacRae J, Taylor IA and West SC.
  TITLE     Targeting the nucleotide salvage factor DNPH1 sensitizes
            BRCA-deficient cells to PARP inhibitors
  JOURNAL   Science 372 (6538), 156-165 (2021)
   PUBMED   33833118
  REMARK    GeneRIF: Targeting the nucleotide salvage factor DNPH1 sensitizes
            BRCA-deficient cells to PARP inhibitors.
REFERENCE   2  (residues 1 to 174)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 174)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 174)
  AUTHORS   Amiable C, Paoletti J, Haouz A, Padilla A, Labesse G, Kaminski PA
            and Pochet S.
  TITLE     6-(Hetero)Arylpurine nucleotides as inhibitors of the oncogenic
            target DNPH1: synthesis, structural studies and cytotoxic
            activities
  JOURNAL   Eur J Med Chem 85, 418-437 (2014)
   PUBMED   25108359
REFERENCE   5  (residues 1 to 174)
  AUTHORS   Deng X, Sabino EC, Cunha-Neto E, Ribeiro AL, Ianni B, Mady C, Busch
            MP and Seielstad M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 174)
  AUTHORS   Shin S, Bosc DG, Ingle JN, Spelsberg TC and Janknecht R.
  TITLE     Rcl is a novel ETV1/ER81 target gene upregulated in breast tumors
  JOURNAL   J Cell Biochem 105 (3), 866-874 (2008)
   PUBMED   18726892
  REMARK    GeneRIF: characterization of the human Rcl gene, we cloned its
            promoter, Rcl is a bona fide target gene of ETV1.
REFERENCE   7  (residues 1 to 174)
  AUTHORS   Ghiorghi YK, Zeller KI, Dang CV and Kaminski PA.
  TITLE     The c-Myc target gene Rcl (C6orf108) encodes a novel enzyme,
            deoxynucleoside 5'-monophosphate N-glycosidase
  JOURNAL   J Biol Chem 282 (11), 8150-8156 (2007)
   PUBMED   17234634
REFERENCE   8  (residues 1 to 174)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   9  (residues 1 to 174)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD,
            Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker
            DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP,
            Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY,
            Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman
            LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M,
            Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD,
            Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ,
            Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S,
            Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL,
            Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL,
            Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson
            CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK,
            Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR,
            Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M,
            Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A,
            Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K,
            Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore
            B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM,
            Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith
            M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G,
            Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A,
            Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL,
            Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt
            JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard
            T, Sulston JE, Dunham I, Rogers J and Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   10 (residues 1 to 174)
  AUTHORS   Lewis BC, Shim H, Li Q, Wu CS, Lee LA, Maity A and Dang CV.
  TITLE     Identification of putative c-Myc-responsive genes: characterization
            of rcl, a novel growth-related gene
  JOURNAL   Mol Cell Biol 17 (9), 4967-4978 (1997)
   PUBMED   9271375
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133375.25, BM747628.1 and
            BC011683.2.
            
            Summary: This gene was identified on the basis of its stimulation
            by c-Myc protein. The latter is a transcription factor that
            participates in the regulation of cell proliferation,
            differentiation, and apoptosis. The exact function of this gene is
            not known but studies in rat suggest a role in cellular
            proliferation and c-Myc-mediated transformation. Two alternative
            transcripts encoding different proteins have been described.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EU585603.1, BC011683.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153946 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000230431.11/ ENSP00000230431.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..174
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     Protein         1..174
                     /product="2'-deoxynucleoside 5'-phosphate N-hydrolase 1
                     isoform 1"
                     /note="putative c-Myc-responsive; deoxyribonucleoside
                     5'-monophosphate N-glycosidase; c-Myc-responsive protein
                     RCL"
                     /calculated_mol_wt=18977
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O43598.1)"
     Region          23..130
                     /region_name="TIR_2"
                     /note="TIR domain; cl23749"
                     /db_xref="CDD:451524"
     Site            28
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43598.1)"
     Site            98
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O43598.1)"
     Site            123
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43598.1)"
     Site            128
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O43598.1)"
     Site            138
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O43598.1)"
     Site            169
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O43598.1)"
     CDS             1..174
                     /gene="DNPH1"
                     /gene_synonym="C6orf108; dJ330M21.3; RCL"
                     /coded_by="NM_006443.3:26..550"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS4891.1"
                     /db_xref="GeneID:10591"
                     /db_xref="HGNC:HGNC:21218"
                     /db_xref="MIM:618762"
ORIGIN      
        1 maaamvpgrs eswergepgr palyfcgsir ggredrtlye rivsrlrrfg tvltehvaaa
       61 elgargeeaa ggdrliheqd lewlqqadvv vaevtqpslg vgyelgrava fnkrilclfr
      121 pqsgrvlsam irgaadgsrf qvwdyeegev ealldryfea dppgqvaasp dptt
//
LOCUS       NP_003500                130 aa            linear   PRI 27-DEC-2022
DEFINITION  histone H2A type 1 [Homo sapiens].
ACCESSION   NP_003500
VERSION     NP_003500.1
DBSOURCE    REFSEQ: accession NM_003509.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 130)
  AUTHORS   Lubula MY, Eckenroth BE, Carlson S, Poplawski A, Chruszcz M and
            Glass KC.
  TITLE     Structural insights into recognition of acetylated histone ligands
            by the BRPF1 bromodomain
  JOURNAL   FEBS Lett 588 (21), 3844-3854 (2014)
   PUBMED   25281266
REFERENCE   2  (residues 1 to 130)
  AUTHORS   Kim W, Chakraborty G, Kim S, Shin J, Park CH, Jeong MW, Bharatham
            N, Yoon HS and Kim KT.
  TITLE     Macro histone H2A1.2 (macroH2A1) protein suppresses mitotic kinase
            VRK1 during interphase
  JOURNAL   J Biol Chem 287 (8), 5278-5289 (2012)
   PUBMED   22194607
REFERENCE   3  (residues 1 to 130)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   4  (residues 1 to 130)
  AUTHORS   Richly H, Rocha-Viegas L, Ribeiro JD, Demajo S, Gundem G,
            Lopez-Bigas N, Nakagawa T, Rospert S, Ito T and Di Croce L.
  TITLE     Transcriptional activation of polycomb-repressed genes by ZRF1
  JOURNAL   Nature 468 (7327), 1124-1128 (2010)
   PUBMED   21179169
REFERENCE   5  (residues 1 to 130)
  AUTHORS   Pozuelo-Rubio M.
  TITLE     Proteomic and biochemical analysis of 14-3-3-binding proteins
            during C2-ceramide-induced apoptosis
  JOURNAL   FEBS J 277 (16), 3321-3342 (2010)
   PUBMED   20618440
REFERENCE   6  (residues 1 to 130)
  AUTHORS   Marzluff WF, Gongidi P, Woods KR, Jin J and Maltais LJ.
  TITLE     The human and mouse replication-dependent histone genes
  JOURNAL   Genomics 80 (5), 487-498 (2002)
   PUBMED   12408966
REFERENCE   7  (residues 1 to 130)
  AUTHORS   Deng L, de la Fuente C, Fu P, Wang L, Donnelly R, Wade JD, Lambert
            P, Li H, Lee CG and Kashanchi F.
  TITLE     Acetylation of HIV-1 Tat by CBP/P300 increases transcription of
            integrated HIV-1 genome and enhances binding to core histones
  JOURNAL   Virology 277 (2), 278-295 (2000)
   PUBMED   11080476
REFERENCE   8  (residues 1 to 130)
  AUTHORS   Albig W, Trappe R, Kardalinou E, Eick S and Doenecke D.
  TITLE     The human H2A and H2B histone gene complement
  JOURNAL   Biol Chem 380 (1), 7-18 (1999)
   PUBMED   10064132
REFERENCE   9  (residues 1 to 130)
  AUTHORS   El Kharroubi A, Piras G, Zensen R and Martin MA.
  TITLE     Transcriptional activation of the integrated chromatin-associated
            human immunodeficiency virus type 1 promoter
  JOURNAL   Mol Cell Biol 18 (5), 2535-2544 (1998)
   PUBMED   9566873
REFERENCE   10 (residues 1 to 130)
  AUTHORS   Albig W and Doenecke D.
  TITLE     The human histone gene cluster at the D6S105 locus
  JOURNAL   Hum Genet 101 (3), 284-294 (1997)
   PUBMED   9439656
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL009179.1.
            
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. Two molecules of each of the four core histones (H2A,
            H2B, H3, and H4) form an octamer, around which approximately 146 bp
            of DNA is wrapped in repeating units, called nucleosomes. The
            linker histone, H1, interacts with linker DNA between nucleosomes
            and functions in the compaction of chromatin into higher order
            structures. This gene is intronless and encodes a
            replication-dependent histone that is a member of the histone H2A
            family. Transcripts from this gene lack polyA tails but instead
            contain a palindromic termination element. This gene is found in
            the small histone gene cluster on chromosome 6p22-p21.3. [provided
            by RefSeq, Aug 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: DA433610.1, DA434175.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match            :: ENST00000358739.5/
                                             ENSP00000351589.3
            RefSeq Select criteria        :: based on single protein-coding
                                             transcript
            replication-dependent histone :: PMID: 12408966
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..130
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     Protein         1..130
                     /product="histone H2A type 1"
                     /note="H2A histone family, member C; histone 1, H2ai;
                     H2A.1; histone cluster 1, H2ai; histone H2A/ptl; histone
                     cluster 1 H2A family member i"
                     /calculated_mol_wt=13960
     Region          1..130
                     /region_name="PTZ00017"
                     /note="histone H2A; Provisional"
                     /db_xref="CDD:185399"
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C0S8.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:11709551,
                     ECO:0000269|PubMed:15823041, ECO:0000269|PubMed:16457589;
                     propagated from UniProtKB/Swiss-Prot (P0C0S8.2)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by RPS6KA5.
                     /evidence=ECO:0000269|PubMed:11709551,
                     ECO:0000269|PubMed:15010469; propagated from
                     UniProtKB/Swiss-Prot (P0C0S8.2)"
     Site            4
                     /site_type="methylation"
                     /note="Symmetric dimethylarginine, by PRMT5, alternate.
                     /evidence=ECO:0000250|UniProtKB:P22752; propagated from
                     UniProtKB/Swiss-Prot (P0C0S8.2)"
     Site            105
                     /site_type="methylation"
                     /note="N5-methylglutamine.
                     /evidence=ECO:0000269|PubMed:24352239; propagated from
                     UniProtKB/Swiss-Prot (P0C0S8.2)"
     Site            121
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by DCAF1.
                     /evidence=ECO:0000269|PubMed:15078818,
                     ECO:0000269|PubMed:24140421; propagated from
                     UniProtKB/Swiss-Prot (P0C0S8.2)"
     CDS             1..130
                     /gene="H2AC13"
                     /gene_synonym="H2A/c; H2AC11; H2AC15; H2AC16; H2AC17;
                     H2AFC; HIST1H2AI"
                     /coded_by="NM_003509.3:38..430"
                     /db_xref="CCDS:CCDS4626.1"
                     /db_xref="GeneID:8329"
                     /db_xref="HGNC:HGNC:4725"
                     /db_xref="MIM:602787"
ORIGIN      
        1 msgrgkqggk arakaktrss raglqfpvgr vhrllrkgny aervgagapv ylaavleylt
       61 aeilelagna ardnkktrii prhlqlairn deelnkllgk vtiaqggvlp niqavllpkk
      121 teshhkakgk
//
LOCUS       NP_001358935             110 aa            linear   PRI 28-DEC-2022
DEFINITION  protein lin-52 homolog isoform 3 [Homo sapiens].
ACCESSION   NP_001358935 XP_016877252
VERSION     NP_001358935.1
DBSOURCE    REFSEQ: accession NM_001372006.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 110)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 110)
  AUTHORS   Litovchick L, Florens LA, Swanson SK, Washburn MP and DeCaprio JA.
  TITLE     DYRK1A protein kinase promotes quiescence and senescence through
            DREAM complex assembly
  JOURNAL   Genes Dev 25 (8), 801-813 (2011)
   PUBMED   21498570
REFERENCE   3  (residues 1 to 110)
  AUTHORS   Eriksson N, Macpherson JM, Tung JY, Hon LS, Naughton B, Saxonov S,
            Avey L, Wojcicki A, Pe'er I and Mountain J.
  TITLE     Web-based, participant-driven studies yield novel genetic
            associations for common traits
  JOURNAL   PLoS Genet 6 (6), e1000993 (2010)
   PUBMED   20585627
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 110)
  AUTHORS   Litovchick L, Sadasivam S, Florens L, Zhu X, Swanson SK, Velmurugan
            S, Chen R, Washburn MP, Liu XS and DeCaprio JA.
  TITLE     Evolutionarily conserved multisubunit RBL2/p130 and E2F4 protein
            complex represses human cell cycle-dependent genes in quiescence
  JOURNAL   Mol Cell 26 (4), 539-551 (2007)
   PUBMED   17531812
REFERENCE   5  (residues 1 to 110)
  AUTHORS   Harrison MM, Ceol CJ, Lu X and Horvitz HR.
  TITLE     Some C. elegans class B synthetic multivulva proteins encode a
            conserved LIN-35 Rb-containing complex distinct from a NuRD-like
            complex
  JOURNAL   Proc Natl Acad Sci U S A 103 (45), 16782-16787 (2006)
   PUBMED   17075059
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005484.2 and AC006349.3.
            On Jul 31, 2019 this sequence version replaced XP_016877252.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1080744.1,
                                           SRR14372080.1565853.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..110
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     Protein         1..110
                     /product="protein lin-52 homolog isoform 3"
                     /note="protein lin-52 homolog"
                     /calculated_mol_wt=12209
     Region          12..105
                     /region_name="LIN52"
                     /note="Retinal tissue protein; pfam10044"
                     /db_xref="CDD:401871"
     CDS             1..110
                     /gene="LIN52"
                     /gene_synonym="C14orf46; c14_5549"
                     /coded_by="NM_001372006.1:20..352"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:91750"
                     /db_xref="HGNC:HGNC:19856"
ORIGIN      
        1 masptddlea sllsfekldr aspdlwpeql pgvaefaasf kspitssppk wmaeierddi
       61 dmlkelgslt tanlmekvrg lqnlayqlgl desremtrgk flnilekpkk
//
LOCUS       NP_919432                204 aa            linear   PRI 29-DEC-2022
DEFINITION  C-type lectin domain family 4 member A isoform 2 [Homo sapiens].
ACCESSION   NP_919432
VERSION     NP_919432.1
DBSOURCE    REFSEQ: accession NM_194450.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 204)
  AUTHORS   Pakvisal N, Kongkavitoon P, Sathitruangsak C, Pornpattanarak N,
            Boonsirikamchai P, Ouwongprayoon P, Aporntewan C, Chantranuwatana
            P, Mutirangura A and Vinayanuwattikun C.
  TITLE     Differential expression of immune-regulatory proteins C5AR1, CLEC4A
            and NLRP3 on peripheral blood mononuclear cells in early-stage
            non-small cell lung cancer patients
  JOURNAL   Sci Rep 12 (1), 18439 (2022)
   PUBMED   36323738
  REMARK    GeneRIF: Differential expression of immune-regulatory proteins
            C5AR1, CLEC4A and NLRP3 on peripheral blood mononuclear cells in
            early-stage non-small cell lung cancer patients.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 204)
  AUTHORS   Kaifu T, Yabe R, Maruhashi T, Chung SH, Tateno H, Fujikado N,
            Hirabayashi J and Iwakura Y.
  TITLE     DCIR and its ligand asialo-biantennary N-glycan regulate DC
            function and osteoclastogenesis
  JOURNAL   J Exp Med 218 (12) (2021)
   PUBMED   34817551
  REMARK    GeneRIF: DCIR and its ligand asialo-biantennary N-glycan regulate
            DC function and osteoclastogenesis.
REFERENCE   3  (residues 1 to 204)
  AUTHORS   Nasu J, Uto T, Fukaya T, Takagi H, Fukui T, Miyanaga N, Nishikawa
            Y, Yamasaki S, Yamashita Y and Sato K.
  TITLE     Pivotal role of the carbohydrate recognition domain in
            self-interaction of CLEC4A to elicit the ITIM-mediated inhibitory
            function in murine conventional dendritic cells in vitro
  JOURNAL   Int Immunol 32 (10), 673-682 (2020)
   PUBMED   32415968
  REMARK    GeneRIF: Pivotal role of the carbohydrate recognition domain in
            self-interaction of CLEC4A to elicit the ITIM-mediated inhibitory
            function in murine conventional dendritic cells in vitro.
REFERENCE   4  (residues 1 to 204)
  AUTHORS   Lau D, Elezagic D, Hermes G, Morgelin M, Wohl AP, Koch M, Hartmann
            U, Hollriegl S, Wagener R, Paulsson M, Streichert T and Klatt AR.
  TITLE     The cartilage-specific lectin C-type lectin domain family 3 member
            A (CLEC3A) enhances tissue plasminogen activator-mediated
            plasminogen activation
  JOURNAL   J Biol Chem 293 (1), 203-214 (2018)
   PUBMED   29146595
  REMARK    GeneRIF: Authors have determined the structure, tissue
            distribution, and molecular function of the cartilage-specific
            lectin CLEC3A and show that CLEC3A binds to plasminogen and
            participates in tPA-mediated plasminogen activation.
REFERENCE   5  (residues 1 to 204)
  AUTHORS   Nagae M, Ikeda A, Hanashima S, Kojima T, Matsumoto N, Yamamoto K
            and Yamaguchi Y.
  TITLE     Crystal structure of human dendritic cell inhibitory receptor
            C-type lectin domain reveals the binding mode with N-glycan
  JOURNAL   FEBS Lett 590 (8), 1280-1288 (2016)
   PUBMED   27015765
  REMARK    Erratum:[FEBS Lett. 2016 May;590(10 ):1552. PMID: 27218798]
REFERENCE   6  (residues 1 to 204)
  AUTHORS   Ebner S, Sharon N and Ben-Tal N.
  TITLE     Evolutionary analysis reveals collective properties and specificity
            in the C-type lectin and lectin-like domain superfamily
  JOURNAL   Proteins 53 (1), 44-55 (2003)
   PUBMED   12945048
REFERENCE   7  (residues 1 to 204)
  AUTHORS   Richard M, Veilleux P, Rouleau M, Paquin R and Beaulieu AD.
  TITLE     The expression pattern of the ITIM-bearing lectin CLECSF6 in
            neutrophils suggests a key role in the control of inflammation
  JOURNAL   J Leukoc Biol 71 (5), 871-880 (2002)
   PUBMED   11994513
REFERENCE   8  (residues 1 to 204)
  AUTHORS   Huang X, Yuan Z, Chen G, Zhang M, Zhang W, Yu Y and Cao X.
  TITLE     Cloning and characterization of a novel ITIM containing lectin-like
            immunoreceptor LLIR and its two transmembrane region deletion
            variants
  JOURNAL   Biochem Biophys Res Commun 281 (1), 131-140 (2001)
   PUBMED   11178971
REFERENCE   9  (residues 1 to 204)
  AUTHORS   Drickamer K.
  TITLE     C-type lectin-like domains
  JOURNAL   Curr Opin Struct Biol 9 (5), 585-590 (1999)
   PUBMED   10508765
  REMARK    Review article
REFERENCE   10 (residues 1 to 204)
  AUTHORS   Bates EE, Fournier N, Garcia E, Valladeau J, Durand I, Pin JJ,
            Zurawski SM, Patel S, Abrams JS, Lebecque S, Garrone P and Saeland
            S.
  TITLE     APCs express DCIR, a novel C-type lectin surface receptor
            containing an immunoreceptor tyrosine-based inhibitory motif
  JOURNAL   J Immunol 163 (4), 1973-1983 (1999)
   PUBMED   10438934
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006511.5, AF067800.1,
            AJ133532.1 and AI400631.1.
            
            Summary: This gene encodes a member of the C-type lectin/C-type
            lectin-like domain (CTL/CTLD) superfamily. Members of this family
            share a common protein fold and have diverse functions, such as
            cell adhesion, cell-cell signalling, glycoprotein turnover, and
            roles in inflammation and immune response. The encoded type 2
            transmembrane protein may play a role in inflammatory and immune
            response. Multiple transcript variants encoding distinct isoforms
            have been identified for this gene. This gene is closely linked to
            other CTL/CTLD superfamily members on chromosome 12p13 in the
            natural killer gene complex region. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2), also known as C-type lectin
            DDB27 short form, lacks an in-frame segment of the coding region,
            compared to variant 1. It encodes a shorter isoform (2), that is
            missing the transmembrane domain compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF200738.1, DRR138517.488799.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..204
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     Protein         1..204
                     /product="C-type lectin domain family 4 member A isoform
                     2"
                     /note="C-type (calcium dependent, carbohydrate-recognition
                     domain) lectin, superfamily member 6; lectin-like
                     immunoreceptor; dendritic cell immunoreceptor; C-type
                     lectin DDB27; C-type lectin superfamily member 6"
                     /calculated_mol_wt=23444
     Region          73..199
                     /region_name="CLECT_DC-SIGN_like"
                     /note="C-type lectin-like domain (CTLD) of the type found
                     in human dendritic cell (DC)-specific intercellular
                     adhesion molecule 3-grabbing non-integrin (DC-SIGN) and
                     the related receptor, DC-SIGN receptor (DC-SIGNR);
                     cd03590"
                     /db_xref="CDD:153060"
     Site            order(129,162,164,168,174..175,185..188)
                     /site_type="other"
                     /note="carbohydrate binding site"
                     /db_xref="CDD:153060"
     Site            order(136,140,165,168..169)
                     /site_type="other"
                     /note="calcium binding site 1 [ion binding]"
                     /db_xref="CDD:153060"
     Site            order(140,169)
                     /site_type="other"
                     /note="calcium binding site 3 [ion binding]"
                     /db_xref="CDD:153060"
     CDS             1..204
                     /gene="CLEC4A"
                     /gene_synonym="CD367; CLECSF6; DCIR; DDB27; HDCGC13P;
                     hDCIR; LLIR"
                     /coded_by="NM_194450.3:263..877"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS8592.1"
                     /db_xref="GeneID:50856"
                     /db_xref="HGNC:HGNC:13257"
                     /db_xref="MIM:605306"
ORIGIN      
        1 mtseityaev rfknefkssg intassaask ertaphksnt gfpkllcasl lifflllais
       61 ffiafvktaw sccpknwksf ssncyfiste saswqdsekd carmeahllv intqeeqdfi
      121 fqnlqeesay fvglsdpegq rhwqwvdqtp ynesstfwhp repsdpnerc vvlnfrkspk
      181 rwgwndvncl gpqrsvcemm kihl
//
LOCUS       NP_110416                377 aa            linear   PRI 29-DEC-2022
DEFINITION  minor histocompatibility antigen H13 isoform 1 [Homo sapiens].
ACCESSION   NP_110416
VERSION     NP_110416.1
DBSOURCE    REFSEQ: accession NM_030789.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 377)
  AUTHORS   Yang H, Li Z, Wang Z, Zhang X, Dai X, Zhou G and Ding Q.
  TITLE     Histocompatibility Minor 13 (HM13), targeted by miR-760, exerts
            oncogenic role in breast cancer by suppressing autophagy and
            activating PI3K-AKT-mTOR pathway
  JOURNAL   Cell Death Dis 13 (8), 728 (2022)
   PUBMED   36153332
  REMARK    GeneRIF: Histocompatibility Minor 13 (HM13), targeted by miR-760,
            exerts oncogenic role in breast cancer by suppressing autophagy and
            activating PI3K-AKT-mTOR pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 377)
  AUTHORS   Hsu FF, Chou YT, Chiang MT, Li FA, Yeh CT, Lee WH and Chau LY.
  TITLE     Signal peptide peptidase promotes tumor progression via
            facilitating FKBP8 degradation
  JOURNAL   Oncogene 38 (10), 1688-1701 (2019)
   PUBMED   30348988
  REMARK    GeneRIF: Study demonstrates that SPP is highly induced in lung and
            breast cancers and promotes tumor progression, at least in part, by
            facilitating the degradation of mTOR inhibitor FKBP8.
REFERENCE   3  (residues 1 to 377)
  AUTHORS   Kronenberg-Versteeg D, Eichmann M, Russell MA, de Ru A, Hehn B,
            Yusuf N, van Veelen PA, Richardson SJ, Morgan NG, Lemberg MK and
            Peakman M.
  TITLE     Molecular Pathways for Immune Recognition of Preproinsulin Signal
            Peptide in Type 1 Diabetes
  JOURNAL   Diabetes 67 (4), 687-696 (2018)
   PUBMED   29343547
  REMARK    GeneRIF: Preproinsulin signal peptide epitopes are processed by SPP
            and loaded for HLA-guided immune recognition via pathways that are
            enhanced during type 1 diabetes pathogenesis.
REFERENCE   4  (residues 1 to 377)
  AUTHORS   Schaefer B, Moriishi K and Behrends S.
  TITLE     Insights into the mechanism of isoenzyme-specific signal peptide
            peptidase-mediated translocation of heme oxygenase
  JOURNAL   PLoS One 12 (11), e0188344 (2017)
   PUBMED   29155886
  REMARK    GeneRIF: The domains involved in HO-1 translocation have been
            identified, and it was shown that SPP-mediated HO-1 cleavage is
            isoform-specific (HO-1 vs HO-2) and independent of heme oxygenase
            activity.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 377)
  AUTHORS   Mentrup T, Loock AC, Fluhrer R and Schroder B.
  TITLE     Signal peptide peptidase and SPP-like proteases - Possible
            therapeutic targets?
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1864 (11 Pt B), 2169-2182 (2017)
   PUBMED   28624439
  REMARK    GeneRIF: Though far from complete, our knowledge on
            pathophysiological functions of SPP/SPPL proteases, in particular
            based on studies in mice, has been significantly increased over the
            last years. Based on this, inhibition of distinct SPP/SPPL
            proteases has been proposed as a novel therapeutic concept e.g. for
            the treatment of autoimmunity and viral or protozoal infections, as
            we will discuss in this review.
            Review article
REFERENCE   6  (residues 1 to 377)
  AUTHORS   Wood AJ, Roberts RG, Monk D, Moore GE, Schulz R and Oakey RJ.
  TITLE     A screen for retrotransposed imprinted genes reveals an association
            between X chromosome homology and maternal germ-line methylation
  JOURNAL   PLoS Genet 3 (2), e20 (2007)
   PUBMED   17291163
REFERENCE   7  (residues 1 to 377)
  AUTHORS   McLauchlan J, Lemberg MK, Hope G and Martoglio B.
  TITLE     Intramembrane proteolysis promotes trafficking of hepatitis C virus
            core protein to lipid droplets
  JOURNAL   EMBO J 21 (15), 3980-3988 (2002)
   PUBMED   12145199
REFERENCE   8  (residues 1 to 377)
  AUTHORS   Grigorenko AP, Moliaka YK, Korovaitseva GI and Rogaev EI.
  TITLE     Novel class of polytopic proteins with domains associated with
            putative protease activity
  JOURNAL   Biochemistry (Mosc) 67 (7), 826-835 (2002)
   PUBMED   12139484
  REMARK    GeneRIF: identification and molecular cloning; expression analysis
            of the hIMP1 gene (located on chromosome 20) was performed in human
            cell tissues and transfected cell cultures [IMP1]
REFERENCE   9  (residues 1 to 377)
  AUTHORS   Weihofen A, Binns K, Lemberg MK, Ashman K and Martoglio B.
  TITLE     Identification of signal peptide peptidase, a presenilin-type
            aspartic protease
  JOURNAL   Science 296 (5576), 2215-2218 (2002)
   PUBMED   12077416
  REMARK    GeneRIF: identified human signal peptide peptidase as a polytopic
            membrane protein with sequence motifs characteristic of the
            presenilin-type aspartic proteases [SPP]
REFERENCE   10 (residues 1 to 377)
  AUTHORS   Lemberg MK, Bland FA, Weihofen A, Braud VM and Martoglio B.
  TITLE     Intramembrane proteolysis of signal peptides: an essential step in
            the generation of HLA-E epitopes
  JOURNAL   J Immunol 167 (11), 6441-6446 (2001)
   PUBMED   11714810
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI552780.1 and BC062595.1.
            
            Summary: The protein encoded by this gene, which localizes to the
            endoplasmic reticulum, catalyzes intramembrane proteolysis of some
            signal peptides after they have been cleaved from a preprotein.
            This activity is required to generate signal sequence-derived human
            lymphocyte antigen-E epitopes that are recognized by the immune
            system, and to process hepatitis C virus core protein. The encoded
            protein is an integral membrane protein with sequence motifs
            characteristic of the presenilin-type aspartic proteases. Multiple
            transcript variants encoding several different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the predominant
            isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC008938.2, AF172086.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene :: PMID: 17291163
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..377
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     Protein         1..377
                     /product="minor histocompatibility antigen H13 isoform 1"
                     /EC_number="3.4.23.-"
                     /note="minor histocompatibility antigen 13; minor
                     histocompatibility antigen H13; presenilin-like protein 3;
                     signal peptide peptidase beta; intramembrane protease 1;
                     signal peptide peptidase like 1"
                     /calculated_mol_wt=41357
     Region          1..27
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCT9.1)"
     Site            10
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q8TCT9.1)"
     Site            20
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q8TCT9.1)"
     Site            32..52
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCT9.1)"
     Region          63..350
                     /region_name="Peptidase_A22B"
                     /note="Signal peptide peptidase; pfam04258"
                     /db_xref="CDD:282158"
     Site            78..98
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCT9.1)"
     Site            101..121
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCT9.1)"
     Site            158..178
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCT9.1)"
     Site            182..202
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCT9.1)"
     Site            210..230
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCT9.1)"
     Site            257..277
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCT9.1)"
     Site            291..311
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCT9.1)"
     Site            315..335
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCT9.1)"
     Region          317..319
                     /region_name="PAL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCT9.1)"
     Region          345..377
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCT9.1)"
     Site            367
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8TCT9.1)"
     CDS             1..377
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /coded_by="NM_030789.4:111..1244"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13182.1"
                     /db_xref="GeneID:81502"
                     /db_xref="HGNC:HGNC:16435"
                     /db_xref="MIM:607106"
ORIGIN      
        1 mdsalsdphn gsaeaggptn sttrppstpe gialaygsll lmallpiffg alrsvrcarg
       61 knasdmpeti tsrdaarfpi iasctllgly lffkifsqey inlllsmyff vlgilalsht
      121 ispfmnkffp asfpnrqyql lftqgsgenk eeiinyefdt kdlvclglss ivgvwyllrk
      181 hwiannlfgl afslngvell hlnnvstgci llgglfiydv fwvfgtnvmv tvaksfeapi
      241 klvfpqdlle kgleannfam lglgdvvipg ifialllrfd islkknthty fytsfaayif
      301 glgltifimh ifkhaqpall ylvpacigfp vlvalakgev temfsyeesn pkdpaavtes
      361 kegteasask glekkek
//
LOCUS       NP_001374110            1069 aa            linear   PRI 30-DEC-2022
DEFINITION  ataxin-2-like protein isoform 17 [Homo sapiens].
ACCESSION   NP_001374110 XP_005255128
VERSION     NP_001374110.1
DBSOURCE    REFSEQ: accession NM_001387181.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1069)
  AUTHORS   Lin L, Li X, Pan C, Lin W, Shao R, Liu Y, Zhang J, Luo Y, Qian K,
            Shi M, Bin J, Liao Y and Liao W.
  TITLE     ATXN2L upregulated by epidermal growth factor promotes gastric
            cancer cell invasiveness and oxaliplatin resistance
  JOURNAL   Cell Death Dis 10 (3), 173 (2019)
   PUBMED   30787271
  REMARK    GeneRIF: ATXN2L promotes cell invasiveness and oxaliplatin
            resistance and can be upregulated by EGF via PI3K/Akt signaling.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1069)
  AUTHORS   Kaehler C, Guenther A, Uhlich A and Krobitsch S.
  TITLE     PRMT1-mediated arginine methylation controls ATXN2L localization
  JOURNAL   Exp Cell Res 334 (1), 114-125 (2015)
   PUBMED   25748791
  REMARK    GeneRIF: ATXN2L associates with the protein
            arginine-N-methyltransferase 1 (PRMT1).
REFERENCE   3  (residues 1 to 1069)
  AUTHORS   Guo Z, Neilson LJ, Zhong H, Murray PS, Zanivan S and Zaidel-Bar R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1069)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen
            AA, Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke
            L, Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM,
            Tiemeier H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst
            FC, Ward ME, Wright MJ, Davey Smith G, Deary IJ, Johannesson M,
            Plomin R, Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   5  (residues 1 to 1069)
  AUTHORS   Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB,
            Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G,
            Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J,
            Graslund S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ
            and Greenblatt J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
REFERENCE   6  (residues 1 to 1069)
  AUTHORS   Ong SE, Mittler G and Mann M.
  TITLE     Identifying and quantifying in vivo methylation sites by heavy
            methyl SILAC
  JOURNAL   Nat Methods 1 (2), 119-126 (2004)
   PUBMED   15782174
REFERENCE   7  (residues 1 to 1069)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   8  (residues 1 to 1069)
  AUTHORS   Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M and
            Peters EC.
  TITLE     Robust phosphoproteomic profiling of tyrosine phosphorylation sites
            from human T cells using immobilized metal affinity chromatography
            and tandem mass spectrometry
  JOURNAL   Anal Chem 76 (10), 2763-2772 (2004)
   PUBMED   15144186
REFERENCE   9  (residues 1 to 1069)
  AUTHORS   Figueroa KP and Pulst SM.
  TITLE     Identification and expression of the gene for human
            ataxin-2-related protein on chromosome 16
  JOURNAL   Exp Neurol 184 (2), 669-678 (2003)
   PUBMED   14769358
REFERENCE   10 (residues 1 to 1069)
  AUTHORS   Meunier C, Bordereaux D, Porteu F, Gisselbrecht S, Chretien S and
            Courtois G.
  TITLE     Cloning and characterization of a family of proteins associated
            with Mpl
  JOURNAL   J Biol Chem 277 (11), 9139-9147 (2002)
   PUBMED   11784712
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC145285.2, AC116346.2 and
            AC133550.2.
            On Sep 25, 2020 this sequence version replaced XP_005255128.1.
            
            Summary: This gene encodes an ataxin type 2 related protein of
            unknown function. This protein is a member of the spinocerebellar
            ataxia (SCAs) family, which is associated with a complex group of
            neurodegenerative disorders. Several alternatively spliced
            transcripts encoding different isoforms have been found for this
            gene. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1069
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     Protein         1..1069
                     /product="ataxin-2-like protein isoform 17"
                     /note="ataxin 2 related protein; ataxin-2 domain protein;
                     ataxin-2-like protein"
                     /calculated_mol_wt=112540
     Region          1..115
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          98..121
                     /region_name="Interaction with MPL.
                     /evidence=ECO:0000269|PubMed:11784712"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            103
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            111
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            118
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          123..196
                     /region_name="SM-ATX"
                     /note="Ataxin 2 SM domain; pfam14438"
                     /db_xref="CDD:433954"
     Site            207
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q7TQH0; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          209..750
                     /region_name="PBP1"
                     /note="PAB1-binding protein PBP1, interacts with
                     poly(A)-binding protein [RNA processing and modification];
                     COG5180"
                     /db_xref="CDD:227507"
     Site            238
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          264..326
                     /region_name="LsmAD"
                     /note="LsmAD domain; pfam06741"
                     /db_xref="CDD:429091"
     Site            264
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15144186; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            306
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            309
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15144186; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            335
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            339
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            349
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15144186; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            361
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000269|PubMed:25748791; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            391
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            409
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            455
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            499
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            502
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          557..703
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            563
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7TQH0; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            564
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            565
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            569
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            600
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            638
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            640
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            680
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            686
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            690
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          739..776
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          <815..>946
                     /region_name="PRK10263"
                     /note="DNA translocase FtsK; Provisional"
                     /db_xref="CDD:236669"
     Region          826..855
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          842..>1055
                     /region_name="dnaA"
                     /note="chromosomal replication initiator protein DnaA;
                     cl42516"
                     /db_xref="CDD:455861"
     Region          1029..1052
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     CDS             1..1069
                     /gene="ATXN2L"
                     /gene_synonym="A2D; A2LG; A2LP; A2RP"
                     /coded_by="NM_001387181.1:262..3471"
                     /note="isoform 17 is encoded by transcript variant 23"
                     /db_xref="GeneID:11273"
                     /db_xref="HGNC:HGNC:31326"
                     /db_xref="MIM:607931"
ORIGIN      
        1 mlkpqplqqp sqpqqppptq qavarrppgg tsppngglpg platsaappg ppaaaspclg
       61 pvaaagsglr rgaegilapq ppppqqhqer pgaaaigsar gqstgkgppq spvfegvynn
      121 srmlhfltav vgstcdvkvk ngttyegifk tlsskfelav davhrkasep aggprrediv
      181 dtmvfkpsdv mlvhfrnvdf nyatkdkftd saiamnskvn gehkekvlqr weggdsnsdd
      241 ydlesdmsng wdpnemfkfn eenygvktty dsslssytvp lekdnseefr qrelraaqla
      301 reiesspqyr lriamenddg rteeekhsav qrqgsgresp slasregkyi plpqrvregp
      361 rggvrcsssr ggrpglsslp prgphhldns spgpgsearg inggpsrmsp kaqrplrgak
      421 tlsspsnrps getsvppppa appflpvgrm ypprspksaa papisascpe ppigsavpts
      481 sasipvtssv sdpgvgsisp aspkislapt dvkelstkep grtlepqela riagkvpglq
      541 neqkrfqlee lrkfgaqfkl qpssspensl dpfpprilke epkgkekevd glltsepmgs
      601 pvssktesvs dkedkpplap sggtegpeqp pppcpsqtgs ppvglikged kdegpvaeqv
      661 kkstlnpnak efnptkplls vnkststpts pgprthstps ipvltagqsg lyspqyisyi
      721 pqihmgpavq apqmypypvs nsvpgqqgky rgakgslppq rsdqhqpasa ppmmqaaaaa
      781 gpplvaatpy ssyipynpqq fpgqpammqp mahypsqpvf apmlqsnprm ltsgshpqai
      841 vssstpqyps aeqptpqaly atvhqsyphh atqlhahqpq pattptgsqp qsqhaapspv
      901 qqhqagqaph lgsgqpqqnl yhpgaltgtp pslppgpsaq spqssfpqpa avyaihhqql
      961 phgftnmahv tqahvqtgit aappphpgap hppqvmllhp pqshggppqg avpqsgvpal
     1021 sastpspypy ighpqgeqpg qapgfpggad dripplpppg elkivlaat
//
LOCUS       NP_001374241             647 aa            linear   PRI 30-DEC-2022
DEFINITION  zinc finger protein 133 isoform o [Homo sapiens].
ACCESSION   NP_001374241
VERSION     NP_001374241.1
DBSOURCE    REFSEQ: accession NM_001387312.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 647)
  AUTHORS   Jung ES, Choi KW, Kim SW, Hubenthal M, Mucha S, Park J, Park Z,
            Ellinghaus D, Schreiber S, Franke A, Oh WY and Cheon JH.
  TITLE     ZNF133 is associated with infliximab responsiveness in patients
            with inflammatory bowel diseases
  JOURNAL   J Gastroenterol Hepatol 34 (10), 1727-1735 (2019)
   PUBMED   30851117
  REMARK    GeneRIF: ZNF133 SNPs are associated with infliximab responsiveness
            in patients crohn's disease and ulcerative colitis.
REFERENCE   2  (residues 1 to 647)
  AUTHORS   Miyamoto-Sato E, Fujimori S, Ishizaka M, Hirai N, Masuoka K, Saito
            R, Ozawa Y, Hino K, Washio T, Tomita M, Yamashita T, Oshikubo T,
            Akasaka H, Sugiyama J, Matsumoto Y and Yanagawa H.
  TITLE     A comprehensive resource of interacting protein regions for
            refining human transcription factor networks
  JOURNAL   PLoS One 5 (2), e9289 (2010)
   PUBMED   20195357
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 647)
  AUTHORS   Lee SJ, Lee JR, Hahn HS, Kim YH, Ahn JH, Bae CD, Yang JM and Hahn
            MJ.
  TITLE     PIAS1 interacts with the KRAB zinc finger protein, ZNF133, via zinc
            finger motifs and regulates its transcriptional activity
  JOURNAL   Exp Mol Med 39 (4), 450-457 (2007)
   PUBMED   17934332
  REMARK    GeneRIF: the transcriptional repressor activity of ZNF133 is
            regulated by both the KRAB domain and the zinc finger motifs, and
            that the repressive effect by zinc finger motifs is mediated by
            PIAS1
REFERENCE   4  (residues 1 to 647)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   5  (residues 1 to 647)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   6  (residues 1 to 647)
  AUTHORS   Moosmann P, Georgiev O, Thiesen HJ, Hagmann M and Schaffner W.
  TITLE     Silencing of RNA polymerases II and III-dependent transcription by
            the KRAB protein domain of KOX1, a Kruppel-type zinc finger factor
  JOURNAL   Biol Chem 378 (7), 669-677 (1997)
   PUBMED   9278146
REFERENCE   7  (residues 1 to 647)
  AUTHORS   Vissing H, Meyer WK, Aagaard L, Tommerup N and Thiesen HJ.
  TITLE     Repression of transcriptional activity by heterologous KRAB domains
            present in zinc finger proteins
  JOURNAL   FEBS Lett 369 (2-3), 153-157 (1995)
   PUBMED   7649249
REFERENCE   8  (residues 1 to 647)
  AUTHORS   Tommerup N and Vissing H.
  TITLE     Isolation and fine mapping of 16 novel human zinc finger-encoding
            cDNAs identify putative candidate genes for developmental and
            malignant disorders
  JOURNAL   Genomics 27 (2), 259-264 (1995)
   PUBMED   7557990
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL049646.19.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3731597.1,
                                           SRR14038194.3492636.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2162946
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..647
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.23"
     Protein         1..647
                     /product="zinc finger protein 133 isoform o"
                     /note="zinc finger protein 133 (clone pHZ-13); zinc finger
                     protein 150 (pHZ-66)"
                     /calculated_mol_wt=72541
     Region          1..53
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          112..191
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P52736.2)"
     Region          208..617
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          209..229
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          237..257
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          265..285
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(270,272,274,276..277,280..281,284,298,300,304..305,
                     308..309,312,326,328,330,332..333,336..337,340)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          293..313
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          321..341
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          349..369
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          377..397
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          405..425
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(410,412,414,416..417,420..421,424,438,440,444..445,
                     448..449,452,466,468,470,472..473,476..477,480)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          433..453
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          461..481
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          489..509
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          517..537
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          545..565
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          573..593
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          601..620
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          615..647
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P52736.2)"
     CDS             1..647
                     /gene="ZNF133"
                     /gene_synonym="pHZ-13; pHZ-66; ZNF150"
                     /coded_by="NM_001387312.1:85..2028"
                     /note="isoform o is encoded by transcript variant 49"
                     /db_xref="GeneID:7692"
                     /db_xref="HGNC:HGNC:12917"
                     /db_xref="MIM:604075"
ORIGIN      
        1 mafrdvavdf tqdewrllsp aqrtlyrevm lenysnlvsl elitqleqgk etwreekkcs
       61 patcpadpep elyldpfcpp gfssqkfpmq hvlcnhppwi ftclcaegni qpgdpgpgdq
      121 ekqqqasegr pwsdqaegpe gegamplfgr tkkrtlgafs rppqrqpvss rnglrgvele
      181 aspaqsgnpe etdkllkrie vlgfgtvncg ecglsfskmt nllshqrihs gekpyvcgvc
      241 ekgfslkksl arhqkahsge kpivcrecgr gfnrkstlii herthsgekp ymcsecgrgf
      301 sqksnliihq rthsgekpyv crecgkgfsq ksavvrhqrt hleektivcs dcglgfsdrs
      361 nlishqrths gekpyackec grcfrqrttl vnhqrthske kpyvcgvcgh sfsqnstlis
      421 hrrthtgekp yvcgvcgrgf slkshlnrhq nihsgekpiv ckdcgrgfsq qsnlirhqrt
      481 hsgekpmvcg ecgrgfsqks nlvahqrths gerpyvcrec grgfshqagl irhkrkhsre
      541 kpymcrqcgl gfgnksalit hkrahseekp cvcrecgqgf lqkshltlhq mthtgekpyv
      601 cktcgrgfsl kshlsrhrkt tsvhhrlpvq pdpepcagqp sdslysl
//
LOCUS       NP_954663                376 aa            linear   PRI 30-DEC-2022
DEFINITION  BRISC and BRCA1-A complex member 2 isoform 3 [Homo sapiens].
ACCESSION   NP_954663
VERSION     NP_954663.1
DBSOURCE    REFSEQ: accession NM_199193.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 376)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 376)
  AUTHORS   Pinto R, Assis J, Nogueira A, Pereira C, Coelho S, Brandao M, Dias
            J, Alves S, Pereira D and Medeiros R.
  TITLE     Pharmacogenomics in epithelial ovarian cancer first-line treatment
            outcome: validation of GWAS-associated NRG3 rs1649942 and BRE
            rs7572644 variants in an independent cohort
  JOURNAL   Pharmacogenomics J 19 (1), 25-32 (2019)
   PUBMED   30287910
  REMARK    GeneRIF: The BRE rs7572644 and NRG3 rs1649942 genetic variants were
            validated in an independent cohort of EOC Portuguese patients.
REFERENCE   3  (residues 1 to 376)
  AUTHORS   Marneth AE, Prange KHM, Al Hinai ASA, Bergevoet SM, Tesi N,
            Janssen-Megens EM, Kim B, Sharifi N, Yaspo ML, Kuster J, Sanders
            MA, Stoetman ECG, Knijnenburg J, Arentsen-Peters TCJM, Zwaan CM,
            Stunnenberg HG, van den Heuvel-Eibrink MM, Haferlach T, Fornerod M,
            Jansen JH, Valk PJM, van der Reijden BA and Martens JHA.
  TITLE     C-terminal BRE overexpression in 11q23-rearranged and t(8;16) acute
            myeloid leukemia is caused by intragenic transcription initiation
  JOURNAL   Leukemia 32 (3), 828-836 (2018)
   PUBMED   28871137
  REMARK    GeneRIF: C-terminal BRE might be an important contributor to this
            program because in a case with relapsed AML, we observed an
            ins(11;2) fusing CHORDC1 to BRE at the region where intragenic
            transcription starts in KMT2A-rearranged and KAT6A-CREBBP AML.
REFERENCE   4  (residues 1 to 376)
  AUTHORS   Biswas K, Philip S, Yadav A, Martin BK, Burkett S, Singh V, Babbar
            A, North SL, Chang S and Sharan SK.
  TITLE     BRE/BRCC45 regulates CDC25A stability by recruiting USP7 in
            response to DNA damage
  JOURNAL   Nat Commun 9 (1), 537 (2018)
   PUBMED   29416040
  REMARK    GeneRIF: show that BRE facilitates deubiquitylation of CDC25A by
            recruiting ubiquitin-specific-processing protease 7 (USP7) in the
            presence of DNA damage
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 376)
  AUTHORS   Chan BC, Ching AK, To KF, Leung JC, Chen S, Li Q, Lai PB, Tang NL,
            Shaw PC, Chan JY, James AE, Lai KN, Lim PL, Lee KK and Chui YL.
  TITLE     BRE is an antiapoptotic protein in vivo and overexpressed in human
            hepatocellular carcinoma
  JOURNAL   Oncogene 27 (9), 1208-1217 (2008)
   PUBMED   17704801
  REMARK    GeneRIF: Antiapoptotic in vivo; Bre levels are regulated
            post-transcriptionally in the liver, which is not observed in human
            hepatocellular carcinoma (HCC) and non-HCC cell lines.
REFERENCE   6  (residues 1 to 376)
  AUTHORS   Dong Y, Hakimi MA, Chen X, Kumaraswamy E, Cooch NS, Godwin AK and
            Shiekhattar R.
  TITLE     Regulation of BRCC, a holoenzyme complex containing BRCA1 and
            BRCA2, by a signalosome-like subunit and its role in DNA repair
  JOURNAL   Mol Cell 12 (5), 1087-1099 (2003)
   PUBMED   14636569
REFERENCE   7  (residues 1 to 376)
  AUTHORS   Ching AK, Li PS, Li Q, Chan BC, Chan JY, Lim PL, Pang JC and Chui
            YL.
  TITLE     Expression of human BRE in multiple isoforms
  JOURNAL   Biochem Biophys Res Commun 288 (3), 535-545 (2001)
   PUBMED   11676476
REFERENCE   8  (residues 1 to 376)
  AUTHORS   Miao J, Panesar NS, Chan KT, Lai FM, Xia N, Wang Y, Johnson PJ and
            Chan JY.
  TITLE     Differential expression of a stress-modulating gene, BRE, in the
            adrenal gland, in adrenal neoplasia, and in abnormal adrenal
            tissues
  JOURNAL   J Histochem Cytochem 49 (4), 491-500 (2001)
   PUBMED   11259452
REFERENCE   9  (residues 1 to 376)
  AUTHORS   Gu C, Castellino A, Chan JY and Chao MV.
  TITLE     BRE: a modulator of TNF-alpha action
  JOURNAL   FASEB J 12 (12), 1101-1108 (1998)
   PUBMED   9737713
REFERENCE   10 (residues 1 to 376)
  AUTHORS   Li L, Yoo H, Becker FF, Ali-Osman F and Chan JY.
  TITLE     Identification of a brain- and reproductive-organs-specific gene
            responsive to DNA damage and retinoic acid
  JOURNAL   Biochem Biophys Res Commun 206 (2), 764-774 (1995)
   PUBMED   7826398
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021171.6, AF420603.1 and
            CR994399.1.
            
            Summary: This gene encodes an anti-apoptotic, death
            receptor-associated protein that interacts with tumor necrosis
            factor-receptor-1. The encoded protein acts as an adapter in
            several protein complexes, including the BRCA1-A complex and the
            BRISC complex. The BRCA1-A complex possesses ubiquitinase activity
            and targets sites of double strand DNA breaks, while the BRISC
            complex exhibits deubiquitinase activity and is involved in mitotic
            spindle assembly. This gene is upregulated in several types of
            cancer. [provided by RefSeq, Jun 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF420603.1, SRR14038196.1227394.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..376
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.2"
     Protein         1..376
                     /product="BRISC and BRCA1-A complex member 2 isoform 3"
                     /note="BRCA1/BRCA2-containing complex, subunit 4; BRCA1-A
                     complex subunit BRE; brain and reproductive
                     organ-expressed (TNFRSF1A modulator);
                     BRCA1/BRCA2-containing complex subunit 45; brain and
                     reproductive organ-expressed protein"
                     /calculated_mol_wt=42566
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:22223895;
                     propagated from UniProtKB/Swiss-Prot (Q9NXR7.2)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NXR7.2)"
     Region          8..332
                     /region_name="BRE"
                     /note="Brain and reproductive organ-expressed protein
                     (BRE); pfam06113"
                     /db_xref="CDD:428776"
     Region          30..147
                     /region_name="UEV-like 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXR7.2)"
     CDS             1..376
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /coded_by="NM_199193.3:205..1335"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS1765.1"
                     /db_xref="GeneID:9577"
                     /db_xref="HGNC:HGNC:1106"
                     /db_xref="MIM:610497"
ORIGIN      
        1 mspevalnri spmlspfiss vvrngkvgld atnclritdl ksgctsltpg pncdrfklhi
       61 pyagetlkwd iifnaqypel ppdfifgeda eflpdpsalq nlaswnpsnp eclllvvkel
      121 vqqyhqfqcs rlressrlmf eyqtlleepq ygenmeiyag kknnwtgefs arfllklpvd
      181 fsniptyllk dvnedpgedv allsvsfedt eatqvypkly lspriehalg gssalhipaf
      241 pgggclidyv pqvchlltnk vqyviqgyhk rreyiaafls hfgtgvveyd aegftkltll
      301 lmwkdfcflv hidlplffpr dqptltfqsv yhftnsgqly sqaqknypys prwdgnemak
      361 rakresnrdg eesssa
//
LOCUS       NP_001376645             302 aa            linear   PRI 31-DEC-2022
DEFINITION  glycine N-acyltransferase-like protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001376645
VERSION     NP_001376645.1
DBSOURCE    REFSEQ: accession NM_001389716.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 302)
  AUTHORS   Eich ML, Chandrashekar DS, Rodriguez Pen A MDC, Robinson AD,
            Siddiqui J, Daignault-Newton S, Chakravarthi BVSK, Kunju LP, Netto
            GJ and Varambally S.
  TITLE     Characterization of glycine-N-acyltransferase like 1 (GLYATL1) in
            prostate cancer
  JOURNAL   Prostate 79 (14), 1629-1639 (2019)
   PUBMED   31376196
  REMARK    GeneRIF: study characterizes the expression of
            glycine-N-acyltransferase like 1(GLYATL1) in prostate cancer and
            explores its regulation in prostate cancer
REFERENCE   2  (residues 1 to 302)
  AUTHORS   Matsuo M, Terai K, Kameda N, Matsumoto A, Kurokawa Y, Funase Y,
            Nishikawa K, Sugaya N, Hiruta N and Kishimoto T.
  TITLE     Designation of enzyme activity of glycine-N-acyltransferase family
            genes and depression of glycine-N-acyltransferase in human
            hepatocellular carcinoma
  JOURNAL   Biochem Biophys Res Commun 420 (4), 901-906 (2012)
   PUBMED   22475485
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001636.4 and KF459756.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138522.1366616.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145122
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..302
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     Protein         1..302
                     /product="glycine N-acyltransferase-like protein 1 isoform
                     2"
                     /EC_number="2.3.1.68"
                     /note="glycine N-acyltransferase-like protein 1;
                     acyl-CoA:glycine N-acyltransferase-like protein 1;
                     glutamine N-acyltransferase"
                     /calculated_mol_wt=34970
     Region          1..207
                     /region_name="Gly_acyl_tr_N"
                     /note="Aralkyl acyl-CoA:amino acid N-acyltransferase;
                     pfam06021"
                     /db_xref="CDD:428725"
     Region          208..296
                     /region_name="Gly_acyl_tr_C"
                     /note="Aralkyl acyl-CoA:amino acid N-acyltransferase,
                     C-terminal region; pfam08444"
                     /db_xref="CDD:117021"
     CDS             1..302
                     /gene="GLYATL1"
                     /gene_synonym="GATF-C; GNAT"
                     /coded_by="NM_001389716.2:410..1318"
                     /note="isoform 2 is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS55768.1"
                     /db_xref="GeneID:92292"
                     /db_xref="HGNC:HGNC:30519"
                     /db_xref="MIM:614761"
ORIGIN      
        1 millnnshkl lalykslars ipeslkvygs vyhinhgnpf nmevlvdswp eyqmviirpq
       61 kqemtddmds ytnvyrmfsk epqkseevlk nceivnwkqr lqiqglqesl gegirvatfs
      121 ksvkvehsra lllvtedilk lnassksklg swaetghpdd efesetpnfk yaqldvsysg
      181 lvndnwkrgk nerslhyikr ciedlpaacm lgpegvpvsw vtmdpscevg maysmekyrr
      241 tgnmarvmvr ymkylrqkni pfyisvleen edsrrfvgqf gffeascewh qwtcypqnlv
      301 pf
//
LOCUS       NP_001375030             490 aa            linear   PRI 31-DEC-2022
DEFINITION  poly(A) RNA polymerase GLD2 isoform 9 [Homo sapiens].
ACCESSION   NP_001375030
VERSION     NP_001375030.1
DBSOURCE    REFSEQ: accession NM_001388101.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 490)
  AUTHORS   Yang A, Bofill-De Ros X, Stanton R, Shao TJ, Villanueva P and Gu S.
  TITLE     TENT2, TUT4, and TUT7 selectively regulate miRNA sequence and
            abundance
  JOURNAL   Nat Commun 13 (1), 5260 (2022)
   PUBMED   36071058
  REMARK    GeneRIF: TENT2, TUT4, and TUT7 selectively regulate miRNA sequence
            and abundance.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 490)
  AUTHORS   Inagaki H, Hosoda N and Hoshino SI.
  TITLE     DDX6 is a positive regulator of Ataxin-2/PAPD4 cytoplasmic
            polyadenylation machinery
  JOURNAL   Biochem Biophys Res Commun 553, 9-16 (2021)
   PUBMED   33756349
  REMARK    GeneRIF: DDX6 is a positive regulator of Ataxin-2/PAPD4 cytoplasmic
            polyadenylation machinery.
REFERENCE   3  (residues 1 to 490)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 490)
  AUTHORS   Hojo H, Yashiro Y, Noda Y, Ogami K, Yamagishi R, Okada S, Hoshino
            SI and Suzuki T.
  TITLE     The RNA-binding protein QKI-7 recruits the poly(A) polymerase GLD-2
            for 3' adenylation and selective stabilization of microRNA-122
  JOURNAL   J Biol Chem 295 (2), 390-402 (2020)
   PUBMED   31792053
  REMARK    GeneRIF: The RNA-binding protein QKI-7 recruits the poly(A)
            polymerase GLD-2 for 3' adenylation and selective stabilization of
            microRNA-122.
REFERENCE   5  (residues 1 to 490)
  AUTHORS   Chung CZ, Balasuriya N, Manni E, Liu X, Li SS, O'Donoghue P and
            Heinemann IU.
  TITLE     Gld2 activity is regulated by phosphorylation in the N-terminal
            domain
  JOURNAL   RNA Biol 16 (8), 1022-1033 (2019)
   PUBMED   31057087
  REMARK    GeneRIF: The data demonstrate a novel phosphorylation-dependent
            mechanism to regulate Gld2 activity, revealing tumour suppressor
            miRNAs(miR-122) as a previously unknown target of Akt1-dependent
            signalling
REFERENCE   6  (residues 1 to 490)
  AUTHORS   Wyman SK, Knouf EC, Parkin RK, Fritz BR, Lin DW, Dennis LM, Krouse
            MA, Webster PJ and Tewari M.
  TITLE     Post-transcriptional generation of miRNA variants by multiple
            nucleotidyl transferases contributes to miRNA transcriptome
            complexity
  JOURNAL   Genome Res 21 (9), 1450-1461 (2011)
   PUBMED   21813625
REFERENCE   7  (residues 1 to 490)
  AUTHORS   Qi L, Menzaghi C, Salvemini L, De Bonis C, Trischitta V and Hu FB.
  TITLE     Novel locus FER is associated with serum HMW adiponectin levels
  JOURNAL   Diabetes 60 (8), 2197-2201 (2011)
   PUBMED   21700879
REFERENCE   8  (residues 1 to 490)
  AUTHORS   Glahder JA, Kristiansen K, Durand M, Vinther J and Norrild B.
  TITLE     The early noncoding region of human papillomavirus type 16 is
            regulated by cytoplasmic polyadenylation factors
  JOURNAL   Virus Res 149 (2), 217-223 (2010)
   PUBMED   20144904
  REMARK    GeneRIF: The authors show that the human CPEB1 can repress the
            activity of the reporter construct containing the HPV-16 early
            sequences. This repression can be counteracted by a human
            cytoplasmic poly(A) polymerase, hGLD-2 fused to CPEB1.
REFERENCE   9  (residues 1 to 490)
  AUTHORS   Mullen TE and Marzluff WF.
  TITLE     Degradation of histone mRNA requires oligouridylation followed by
            decapping and simultaneous degradation of the mRNA both 5' to 3'
            and 3' to 5'
  JOURNAL   Genes Dev 22 (1), 50-65 (2008)
   PUBMED   18172165
REFERENCE   10 (residues 1 to 490)
  AUTHORS   Kwak JE, Wang L, Ballantyne S, Kimble J and Wickens M.
  TITLE     Mammalian GLD-2 homologs are poly(A) polymerases
  JOURNAL   Proc Natl Acad Sci U S A 101 (13), 4407-4412 (2004)
   PUBMED   15070731
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008482.5.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.2198920.1,
                                           SRR1803611.266179.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..490
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     Protein         1..490
                     /product="poly(A) RNA polymerase GLD2 isoform 9"
                     /EC_number="2.7.7.19"
                     /note="poly(A) RNA polymerase GLD2; TUTase 2; terminal
                     uridylyltransferase 2; PAP-associated domain-containing
                     protein 4; PAP associated domain containing 4; poly(A) RNA
                     polymerase D4, non-canonical"
                     /calculated_mol_wt=56599
     Region          154..>474
                     /region_name="TRF4"
                     /note="DNA polymerase sigma [Replication, recombination
                     and repair]; COG5260"
                     /db_xref="CDD:227585"
     CDS             1..490
                     /gene="TENT2"
                     /gene_synonym="APD4; GLD2; PAPD4; TUT2"
                     /coded_by="NM_001388101.1:673..2145"
                     /note="isoform 9 is encoded by transcript variant 21"
                     /db_xref="GeneID:167153"
                     /db_xref="HGNC:HGNC:26776"
                     /db_xref="MIM:614121"
ORIGIN      
        1 mfpnsilgrp pftpnhqqhn nfftlsptvy shqqlidaqf nfqnadlsra vslqqltygn
       61 vspiqtsasp lfrgrkrlsd eknlpldgkr qrfhsphqep tvvnqivpls gerrysmppl
      121 fhthyvpdiv rcvppfreia flepreitlp eakdklsqqi lelfetcqqq isdlkkkelc
      181 rtqlqreiql lfprmfpyfa cplesrlflv gsslngfgtr ssdgdlclvv keepvnqkte
      241 arhiltlvhk hfctrlsgyi erpqlirakv pivkfrdkvs cvefdlnvnn ivgirntfll
      301 rtyaylenrv rplvlvikkw ashhqindas rgtlssyslv lmvlhylqtl pepilpslqk
      361 iypesfspai qlhlvhqapc nvppylskne snlgdlllgf lkyyatefdw nsqmisvrea
      421 kaiprpdgie wrnkyicvee pfdgtntara vhekqkfdmi kdqflkswhr lknkrdlnsi
      481 lpvraavlkr
//
LOCUS       NP_001375371             115 aa            linear   PRI 31-DEC-2022
DEFINITION  PABIR family member 1 isoform 3 [Homo sapiens].
ACCESSION   NP_001375371
VERSION     NP_001375371.1
DBSOURCE    REFSEQ: accession NM_001388442.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 115)
  AUTHORS   Hasegawa Y, Taylor D, Ovchinnikov DA, Wolvetang EJ, de Torrente L
            and Mar JC.
  TITLE     Variability of Gene Expression Identifies Transcriptional
            Regulators of Early Human Embryonic Development
  JOURNAL   PLoS Genet 11 (8), e1005428 (2015)
   PUBMED   26288249
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL691477.9.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.565404.1,
                                           SRR14038195.647666.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..115
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     Protein         1..115
                     /product="PABIR family member 1 isoform 3"
                     /note="protein FAM122C; family with sequence similarity
                     122C; PABIR family member 1"
                     /calculated_mol_wt=12805
     CDS             1..115
                     /gene="PABIR3"
                     /gene_synonym="FAM122C"
                     /coded_by="NM_001388442.1:182..529"
                     /note="isoform 3 is encoded by transcript variant 18"
                     /db_xref="CCDS:CCDS55500.1"
                     /db_xref="GeneID:159091"
                     /db_xref="HGNC:HGNC:25202"
ORIGIN      
        1 mayfpgtgrt dqetqldlsl cgrepeslen lfldpdmaqe kmklgfkslp ssttadgnil
       61 rrvnsaplin glgfnsqvlq admlrirtnr ttfrnrrsle itsptsveqk pkdlf
//
LOCUS       NP_001386731             340 aa            linear   PRI 31-DEC-2022
DEFINITION  zinc-regulated GTPase metalloprotein activator 1A isoform 10 [Homo
            sapiens].
ACCESSION   NP_001386731 XP_011516263
VERSION     NP_001386731.1
DBSOURCE    REFSEQ: accession NM_001399802.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 340)
  AUTHORS   Weiss A, Murdoch CC, Edmonds KA, Jordan MR, Monteith AJ, Perera YR,
            Rodriguez Nassif AM, Petoletti AM, Beavers WN, Munneke MJ, Drury
            SL, Krystofiak ES, Thalluri K, Wu H, Kruse ARS, DiMarchi RD,
            Caprioli RM, Spraggins JM, Chazin WJ, Giedroc DP and Skaar EP.
  TITLE     Zn-regulated GTPase metalloprotein activator 1 modulates vertebrate
            zinc homeostasis
  JOURNAL   Cell 185 (12), 2148-2163 (2022)
   PUBMED   35584702
REFERENCE   2  (residues 1 to 340)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 340)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 340)
  AUTHORS   Kanda S, Ohmuraya M, Akagawa H, Horita S, Yoshida Y, Kaneko N,
            Sugawara N, Ishizuka K, Miura K, Harita Y, Yamamoto T, Oka A, Araki
            K, Furukawa T and Hattori M.
  TITLE     Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1
            Gene Is associated with Congenital Anomalies of the Kidney and
            Urinary Tract
  JOURNAL   J Am Soc Nephrol 31 (1), 139-147 (2020)
   PUBMED   31862704
  REMARK    GeneRIF: The identification of a deletion in CBWD1 gene in two
            siblings with CAKUT implies a role for CBWD1 in the etiology of
            some cases of CAKUT
REFERENCE   5  (residues 1 to 340)
  AUTHORS   Wong A, Vallender EJ, Heretis K, Ilkin Y, Lahn BT, Martin CL and
            Ledbetter DH.
  TITLE     Diverse fates of paralogs following segmental duplication of
            telomeric genes
  JOURNAL   Genomics 84 (2), 239-247 (2004)
   PUBMED   15233989
REFERENCE   6  (residues 1 to 340)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   7  (residues 1 to 340)
  AUTHORS   Fan Y, Newman T, Linardopoulou E and Trask BJ.
  TITLE     Gene content and function of the ancestral chromosome fusion site
            in human chromosome 2q13-2q14.1 and paralogous regions
  JOURNAL   Genome Res 12 (11), 1663-1672 (2002)
   PUBMED   12421752
REFERENCE   8  (residues 1 to 340)
  AUTHORS   Shi J, Cai W, Chen X, Ying K, Zhang K and Xie Y.
  TITLE     Identification of dopamine responsive mRNAs in glial cells by
            suppression subtractive hybridization
  JOURNAL   Brain Res 910 (1-2), 29-37 (2001)
   PUBMED   11489251
REFERENCE   9  (residues 1 to 340)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   10 (residues 1 to 340)
  AUTHORS   Page N, Butlin D, Manyonda I and Lowry P.
  TITLE     The development of a genetic profile of placental gene expression
            during the first trimester of pregnancy: a potential tool for
            identifying novel secreted markers
  JOURNAL   Fetal Diagn Ther 15 (4), 237-245 (2000)
   PUBMED   10867487
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356244.13 and AL449043.16.
            On Jan 14, 2022 this sequence version replaced XP_011516263.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.158985.1,
                                           SRR14038193.2393669.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..340
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.3"
     Protein         1..340
                     /product="zinc-regulated GTPase metalloprotein activator
                     1A isoform 10"
                     /note="COBW-like protein; COBW domain-containing protein
                     1; NPC-A-6 COBW domain-containing protein 1; cobalamin
                     synthetase W domain-containing protein 1; zinc-regulated
                     GTPase metalloprotein activator 1A; COBW domain containing
                     1; cobalamin synthase W domain-containing protein 1"
                     /calculated_mol_wt=38236
     Region          11..199
                     /region_name="CobW-like"
                     /note="cobalamin synthesis protein CobW; cd03112"
                     /db_xref="CDD:349766"
     Site            order(17..21,100,167..168)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:349766"
     Site            order(39,44,73)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:349766"
     Region          219..318
                     /region_name="CobW_C"
                     /note="Cobalamin synthesis protein cobW C-terminal domain;
                     pfam07683"
                     /db_xref="CDD:429593"
     CDS             1..340
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /coded_by="NM_001399802.1:294..1316"
                     /note="isoform 10 is encoded by transcript variant 10"
                     /db_xref="GeneID:55871"
                     /db_xref="HGNC:HGNC:17134"
                     /db_xref="MIM:611078"
ORIGIN      
        1 myfkraaraf pvlltgagkt tllnyilteq hskrvaviln efgegsalek slavsqggel
       61 yeewlelrng clccsvkdsg lraienlmqk kgkfdyille ttgladpgav asmfwvdael
      121 gsdiyldgii tivdskyglk hlteekpdgl ineatrqval adailinktd lvpeedvkkl
      181 rttirsingl gqiletqrss lqkklqhvpg tqphldqsiv titfevpgna keehlnmfiq
      241 nllweknvrn kdnhcmevir lkglvsikdk sqqvivqgvh elydleetpv swkddtertn
      301 rlvllgrnld kdilkqlfia tvtetekqwt trfqedqvct
//
LOCUS       NP_001245326              98 aa            linear   PRI 11-MAR-2023
DEFINITION  coiled-coil domain-containing protein 103 isoform 2 [Homo sapiens].
ACCESSION   NP_001245326
VERSION     NP_001245326.1
DBSOURCE    REFSEQ: accession NM_001258397.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 98)
  AUTHORS   Zubair M, Khan R, Ma A, Hameed U, Khan M, Abbas T, Ahmad R, Zhou
            JT, Shah W, Hussain A, Ahmed N, Khan I, Khan K, Zhang YW, Zhang H,
            Wu LM and Shi QH.
  TITLE     A recurrent homozygous missense mutation in CCDC103 causes
            asthenoteratozoospermia due to disorganized dynein arms
  JOURNAL   Asian J Androl 24 (3), 255-259 (2022)
   PUBMED   35259782
  REMARK    GeneRIF: A recurrent homozygous missense mutation in CCDC103 causes
            asthenoteratozoospermia due to disorganized dynein arms.
REFERENCE   2  (residues 1 to 98)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 98)
  AUTHORS   King SM and Patel-King RS.
  TITLE     The outer dynein arm assembly factor CCDC103 forms molecular
            scaffolds through multiple self-interaction sites
  JOURNAL   Cytoskeleton (Hoboken) 77 (1-2), 25-35 (2020)
   PUBMED   31858719
  REMARK    GeneRIF: The outer dynein arm assembly factor CCDC103 forms
            molecular scaffolds through multiple self-interaction sites.
REFERENCE   4  (residues 1 to 98)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 98)
  AUTHORS   Pereira R, Oliveira ME, Santos R, Oliveira E, Barbosa T, Santos T,
            Goncalves P, Ferraz L, Pinto S, Barros A, Oliveira J and Sousa M.
  TITLE     Characterization of CCDC103 expression profiles: further insights
            in primary ciliary dyskinesia and in human reproduction
  JOURNAL   J Assist Reprod Genet 36 (8), 1683-1700 (2019)
   PUBMED   31273583
  REMARK    GeneRIF: Pathogenic variants in CCDC103 are associated with primary
            ciliary dyskinesia.
REFERENCE   6  (residues 1 to 98)
  AUTHORS   Shoemark A, Moya E, Hirst RA, Patel MP, Robson EA, Hayward J,
            Scully J, Fassad MR, Lamb W, Schmidts M, Dixon M, Patel-King RS,
            Rogers AV, Rutman A, Jackson CL, Goggin P, Rubbo B, Ollosson S,
            Carr S, Walker W, Adler B, Loebinger MR, Wilson R, Bush A, Williams
            H, Boustred C, Jenkins L, Sheridan E, Chung EMK, Watson CM, Cullup
            T, Lucas JS, Kenia P, O'Callaghan C, King SM, Hogg C and Mitchison
            HM.
  TITLE     High prevalence of CCDC103 p.His154Pro mutation causing primary
            ciliary dyskinesia disrupts protein oligomerisation and is
            associated with normal diagnostic investigations
  JOURNAL   Thorax 73 (2), 157-166 (2018)
   PUBMED   28790179
  REMARK    GeneRIF: The CCDC103 p.His154Pro mutation is more prevalent than
            previously thought in the South Asian community in the UK and
            causes primary ciliary dyskinesia that can be difficult to diagnose
            using pathology-based clinical tests.
REFERENCE   7  (residues 1 to 98)
  AUTHORS   Casey JP, Goggin P, McDaid J, White M, Ennis S, Betts DR, Lucas JS,
            Elnazir B and Lynch SA.
  TITLE     A case report of primary ciliary dyskinesia, laterality defects and
            developmental delay caused by the co-existence of a single gene and
            chromosome disorder
  JOURNAL   BMC Med Genet 16, 45 (2015)
   PUBMED   26123568
  REMARK    GeneRIF: A variable and complex phenotype caused by the
            co-inheritance of a single gene mutation in CCDC103 and a
            microduplication at 17q12, both on chromosome 17.
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 98)
  AUTHORS   Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV,
            Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C,
            Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Kohler G, Griese M, Li
            Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan
            LC, Shapiro AJ, Letteboer SJ, Mans DA, Carson JL, Leigh MW, Wolf
            WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt
            K, Roepman R, Zariwala MA, Lo CW, Mitchison HM, Knowles MR, Burdine
            RD, Loturco JJ and Omran H.
  CONSRTM   UK10K
  TITLE     DYX1C1 is required for axonemal dynein assembly and ciliary
            motility
  JOURNAL   Nat Genet 45 (9), 995-1003 (2013)
   PUBMED   23872636
REFERENCE   9  (residues 1 to 98)
  AUTHORS   Panizzi JR, Becker-Heck A, Castleman VH, Al-Mutairi DA, Liu Y,
            Loges NT, Pathak N, Austin-Tse C, Sheridan E, Schmidts M, Olbrich
            H, Werner C, Haffner K, Hellman N, Chodhari R, Gupta A,
            Kramer-Zucker A, Olale F, Burdine RD, Schier AF, O'Callaghan C,
            Chung EM, Reinhardt R, Mitchison HM, King SM, Omran H and Drummond
            IA.
  TITLE     CCDC103 mutations cause primary ciliary dyskinesia by disrupting
            assembly of ciliary dynein arms
  JOURNAL   Nat Genet 44 (6), 714-719 (2012)
   PUBMED   22581229
  REMARK    GeneRIF: These results identify Ccdc103 as a dynein arm attachment
            factor that causes primary ciliary dyskinesia when mutated.
            Publication Status: Online-Only
REFERENCE   10 (residues 1 to 98)
  AUTHORS   Zariwala,M.A., Knowles,M.R. and Leigh,M.W.
  TITLE     Primary Ciliary Dyskinesia
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC015936.14.
            
            Sequence Note:.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA749894.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..98
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..98
                     /product="coiled-coil domain-containing protein 103
                     isoform 2"
                     /note="coiled-coil domain-containing protein 103"
                     /calculated_mol_wt=11145
     Region          7..74
                     /region_name="Dynein_attach_N"
                     /note="Dynein attachment factor N-terminus; pfam15867"
                     /db_xref="CDD:434982"
     CDS             1..98
                     /gene="CCDC103"
                     /gene_synonym="CILD17; PR46b; SMH"
                     /coded_by="NM_001258397.3:141..437"
                     /note="isoform 2 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS58554.1"
                     /db_xref="GeneID:388389"
                     /db_xref="HGNC:HGNC:32700"
                     /db_xref="MIM:614677"
ORIGIN      
        1 merndiinfk alekelqaal tadekykren aaklraveqr vasyeefrgi vlashlkple
       61 rkdkmggkrt vpwnchtiqg rtfqdvatei spnswkss
//
LOCUS       NP_001269463             374 aa            linear   PRI 12-MAR-2023
DEFINITION  potassium channel subfamily K member 9 [Homo sapiens].
ACCESSION   NP_001269463
VERSION     NP_001269463.1
DBSOURCE    REFSEQ: accession NM_001282534.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 374)
  AUTHORS   Saito M, Tanaka C, Toyoda H and Kang Y.
  TITLE     Subcellular Localization of Homomeric TASK3 Channels and Its
            Presumed Functional Significances in Trigeminal Motoneurons
  JOURNAL   Int J Mol Sci 24 (1), 344 (2022)
   PUBMED   36613787
  REMARK    GeneRIF: Subcellular Localization of Homomeric TASK3 Channels and
            Its Presumed Functional Significances in Trigeminal Motoneurons.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 374)
  AUTHORS   Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M,
            Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S,
            Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D,
            Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB,
            Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klockner C,
            Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X,
            Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini
            S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava
            C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C,
            Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi
            M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert
            R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie
            A and Klee EW.
  TITLE     Gain and loss of TASK3 channel function and its regulation by novel
            variation cause KCNK9 imprinting syndrome
  JOURNAL   Genome Med 14 (1), 62 (2022)
   PUBMED   35698242
  REMARK    GeneRIF: Gain and loss of TASK3 channel function and its regulation
            by novel variation cause KCNK9 imprinting syndrome.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 374)
  AUTHORS   Chu LH, Liao CC, Liew PL, Chen CW, Su PH, Wen KC, Lai HC, Huang RL
            and Chen LY.
  TITLE     Epigenomic Analysis Reveals the KCNK9 Potassium Channel as a
            Potential Therapeutic Target for Adenomyosis
  JOURNAL   Int J Mol Sci 23 (11), 5973 (2022)
   PUBMED   35682653
  REMARK    GeneRIF: Epigenomic Analysis Reveals the KCNK9 Potassium Channel as
            a Potential Therapeutic Target for Adenomyosis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 374)
  AUTHORS   Ruf N, Bahring S, Galetzka D, Pliushch G, Luft FC, Nurnberg P, Haaf
            T, Kelsey G and Zechner U.
  TITLE     Sequence-based bioinformatic prediction and QUASEP identify genomic
            imprinting of the KCNK9 potassium channel gene in mouse and human
  JOURNAL   Hum Mol Genet 16 (21), 2591-2599 (2007)
   PUBMED   17704508
  REMARK    GeneRIF: KCNK9 gene is imprinted in human and mouse, exhibiting
            preferential expression from the maternal allele in brain.
REFERENCE   5  (residues 1 to 374)
  AUTHORS   Vega-Saenz de Miera E, Lau DH, Zhadina M, Pountney D, Coetzee WA
            and Rudy B.
  TITLE     KT3.2 and KT3.3, two novel human two-pore K(+) channels closely
            related to TASK-1
  JOURNAL   J Neurophysiol 86 (1), 130-142 (2001)
   PUBMED   11431495
REFERENCE   6  (residues 1 to 374)
  AUTHORS   Meadows HJ and Randall AD.
  TITLE     Functional characterisation of human TASK-3, an acid-sensitive
            two-pore domain potassium channel
  JOURNAL   Neuropharmacology 40 (4), 551-559 (2001)
   PUBMED   11249964
REFERENCE   7  (residues 1 to 374)
  AUTHORS   Chapman CG, Meadows HJ, Godden RJ, Campbell DA, Duckworth M,
            Kelsell RE, Murdock PR, Randall AD, Rennie GI and Gloger IS.
  TITLE     Cloning, localisation and functional expression of a novel human,
            cerebellum specific, two pore domain potassium channel
  JOURNAL   Brain Res Mol Brain Res 82 (1-2), 74-83 (2000)
   PUBMED   11042359
REFERENCE   8  (residues 1 to 374)
  AUTHORS   Rajan S, Wischmeyer E, Xin Liu G, Preisig-Muller R, Daut J,
            Karschin A and Derst C.
  TITLE     TASK-3, a novel tandem pore domain acid-sensitive K+ channel. An
            extracellular histiding as pH sensor
  JOURNAL   J Biol Chem 275 (22), 16650-16657 (2000)
   PUBMED   10747866
REFERENCE   9  (residues 1 to 374)
  AUTHORS   Kim Y, Bang H and Kim D.
  TITLE     TASK-3, a new member of the tandem pore K(+) channel family
  JOURNAL   J Biol Chem 275 (13), 9340-9347 (2000)
   PUBMED   10734076
REFERENCE   10 (residues 1 to 374)
  AUTHORS   Zadeh,N. and Graham,J.M. Jr.
  TITLE     KCNK9 Imprinting Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   28333430
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007869.2, AF248241.1,
            AF212829.1, DA416784.1, BX092753.1 and AW085193.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a protein that contains multiple
            transmembrane regions and two pore-forming P domains and functions
            as a pH-dependent potassium channel. Amplification and
            overexpression of this gene have been observed in several types of
            human carcinomas. This gene is imprinted in the brain, with
            preferential expression from the maternal allele. A mutation in
            this gene was associated with Birk-Barel dysmorphism syndrome.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2017].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.325644.1,
                                           SRR1660809.181174.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142670, SAMEA2145544
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 17704508
            MANE Ensembl match     :: ENST00000520439.3/ ENSP00000430676.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..374
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..374
                     /product="potassium channel subfamily K member 9"
                     /note="acid-sensitive potassium channel protein TASK-3;
                     two pore K(+) channel KT3.2; potassium channel, two pore
                     domain subfamily K, member 9; two pore potassium channel
                     KT3.2; TWIK-related acid-sensitive K(+) channel 3;
                     TWIK-related acid-sensitive K+ 3; potassium 2-pore domain
                     leak channel TASK3"
                     /calculated_mol_wt=42133
     Site            9..29
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPC2.1)"
     Site            53
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NPC2.1)"
     Region          <77..132
                     /region_name="Ion_trans_2"
                     /note="Ion channel; pfam07885"
                     /db_xref="CDD:429715"
     Site            108..128
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPC2.1)"
     Site            159..179
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPC2.1)"
     Region          173..243
                     /region_name="Ion_trans_2"
                     /note="Ion channel; pfam07885"
                     /db_xref="CDD:429715"
     Site            219..239
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPC2.1)"
     CDS             1..374
                     /gene="KCNK9"
                     /gene_synonym="BIBARS; K2p9.1; KT3.2; TASK-3; TASK3;
                     TASK32"
                     /coded_by="NM_001282534.2:132..1256"
                     /db_xref="CCDS:CCDS6377.1"
                     /db_xref="GeneID:51305"
                     /db_xref="HGNC:HGNC:6283"
                     /db_xref="MIM:605874"
ORIGIN      
        1 mkrqnvrtls livctftyll vgaavfdale sdhemreeek lkaeeirikg kynissedyr
       61 qlelvilqse phragvqwkf agsfyfaitv ittigyghaa pgtdagkafc mfyavlgipl
      121 tlvmfqslge rmntfvryll krikkccgmr ntdvsmenmv tvgffscmgt lcigaaafsq
      181 ceewsffhay yycfitltti gfgdyvalqt kgalqkkply vafsfmyilv gltvigafln
      241 lvvlrfltmn sederrdaee raslagnrns mvihipeepr psrprykadv pdlqsvcsct
      301 cyrsqdyggr svapqnsfsa klaphyfhsi sykieeisps tlknslfpsp issispglhs
      361 ftdhqrlmkr rksv
//
LOCUS       NP_001028253             364 aa            linear   PRI 12-MAR-2023
DEFINITION  protein L-Myc isoform 1 [Homo sapiens].
ACCESSION   NP_001028253
VERSION     NP_001028253.1
DBSOURCE    REFSEQ: accession NM_001033081.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 364)
  AUTHORS   Jiang H, Li X, Wang W, Hu Y and Ren D.
  TITLE     MYCL promotes the progression of triple-negative breast cancer by
            activating the JAK/STAT3 pathway
  JOURNAL   Oncol Rep 48 (5) (2022)
   PUBMED   36177900
  REMARK    GeneRIF: MYCL promotes the progression of triplenegative breast
            cancer by activating the JAK/STAT3 pathway.
REFERENCE   2  (residues 1 to 364)
  AUTHORS   Akifuji C, Iwasaki M, Kawahara Y, Sakurai C, Cheng YS, Imai T and
            Nakagawa M.
  TITLE     MYCL promotes iPSC-like colony formation via MYC Box 0 and 2
            domains
  JOURNAL   Sci Rep 11 (1), 24254 (2021)
   PUBMED   34930932
  REMARK    GeneRIF: MYCL promotes iPSC-like colony formation via MYC Box 0 and
            2 domains.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 364)
  AUTHORS   Qin J, Xie F, Li C, Han N and Lu H.
  TITLE     MYCL1 Amplification and Expression of L-Myc and c-Myc in Surgically
            Resected Small-Cell Lung Carcinoma
  JOURNAL   Pathol Oncol Res 27, 1609775 (2021)
   PUBMED   34257619
  REMARK    GeneRIF: MYCL1 Amplification and Expression of L-Myc and c-Myc in
            Surgically Resected Small-Cell Lung Carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 364)
  AUTHORS   FitzGerald MJ, Arsura M, Bellas RE, Yang W, Wu M, Chin L, Mann KK,
            DePinho RA and Sonenshein GE.
  TITLE     Differential effects of the widely expressed dMax splice variant of
            Max on E-box vs initiator element-mediated regulation by c-Myc
  JOURNAL   Oncogene 18 (15), 2489-2498 (1999)
   PUBMED   10229200
REFERENCE   5  (residues 1 to 364)
  AUTHORS   Speleman F, Van Camp G and Van Roy N.
  TITLE     Reassignment of MYCL1 to human chromosome 1p34.3 by fluorescence in
            situ hybridization
  JOURNAL   Cytogenet Cell Genet 72 (2-3), 189-190 (1996)
   PUBMED   8978772
REFERENCE   6  (residues 1 to 364)
  AUTHORS   Atchley WR and Fitch WM.
  TITLE     Myc and Max: molecular evolution of a family of proto-oncogene
            products and their dimerization partner
  JOURNAL   Proc Natl Acad Sci U S A 92 (22), 10217-10221 (1995)
   PUBMED   7479755
REFERENCE   7  (residues 1 to 364)
  AUTHORS   Ikegaki N, Minna J and Kennett RH.
  TITLE     The human L-myc gene is expressed as two forms of protein in small
            cell lung carcinoma cell lines: detection by monoclonal antibodies
            specific to two myc homology box sequences
  JOURNAL   EMBO J 8 (6), 1793-1799 (1989)
   PUBMED   2548855
REFERENCE   8  (residues 1 to 364)
  AUTHORS   De Greve J, Battey J, Fedorko J, Birrer M, Evan G, Kaye F,
            Sausville E and Minna J.
  TITLE     The human L-myc gene encodes multiple nuclear phosphoproteins from
            alternatively processed mRNAs
  JOURNAL   Mol Cell Biol 8 (10), 4381-4388 (1988)
   PUBMED   3054516
REFERENCE   9  (residues 1 to 364)
  AUTHORS   Kaye F, Battey J, Nau M, Brooks B, Seifter E, De Greve J, Birrer M,
            Sausville E and Minna J.
  TITLE     Structure and expression of the human L-myc gene reveal a complex
            pattern of alternative mRNA processing
  JOURNAL   Mol Cell Biol 8 (1), 186-195 (1988)
   PUBMED   2827002
REFERENCE   10 (residues 1 to 364)
  AUTHORS   DePinho RA, Hatton KS, Tesfaye A, Yancopoulos GD and Alt FW.
  TITLE     The human myc gene family: structure and activity of L-myc and an
            L-myc pseudogene
  JOURNAL   Genes Dev 1 (10), 1311-1326 (1987)
   PUBMED   3322939
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL033527.26 and AI144219.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.188700.1,
                                           SRR1660807.29451.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372816.3/ ENSP00000361903.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..364
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..364
                     /product="protein L-Myc isoform 1"
                     /note="myc-related gene from lung cancer; l-myc-1
                     proto-oncogene; protein L-Myc-1; class E basic
                     helix-loop-helix protein 38; v-myc myelocytomatosis viral
                     oncogene homolog 1, lung carcinoma derived; v-myc avian
                     myelocytomatosis viral oncogene lung carcinoma derived
                     homolog"
                     /calculated_mol_wt=40196
     Region          2..231
                     /region_name="Myc_N"
                     /note="Myc amino-terminal region; pfam01056"
                     /db_xref="CDD:426019"
     Region          41..81
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P12524.2)"
     Region          111..172
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P12524.2)"
     Region          219..285
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P12524.2)"
     Region          276..364
                     /region_name="bHLHzip_L-Myc"
                     /note="basic Helix-Loop-Helix-zipper (bHLHzip) domain
                     found in L-Myc and similar proteins; cd11457"
                     /db_xref="CDD:381463"
     Site            order(278,282..283,286..287,289..291,293..294,298,
                     318..319)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381463"
     Site            order(297,300..301,303..304,307,320,323..324,327,329..331,
                     333..334,336..337,340,343..344,347..348,350..352,354..355,
                     357..364)
                     /site_type="other"
                     /note="putative tetramer interface [polypeptide binding]"
                     /db_xref="CDD:381463"
     Site            order(297,300..301,303..304,307,320,323..324,327,329..331,
                     333..334,336..337,340,343..344,347..348,350..351,354,
                     357..358,361..362,364)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381463"
     Region          333..361
                     /region_name="Leucine-zipper"
                     /note="propagated from UniProtKB/Swiss-Prot (P12524.2)"
     CDS             1..364
                     /gene="MYCL"
                     /gene_synonym="bHLHe38; L-Myc; LMYC; MYCL1"
                     /coded_by="NM_001033081.3:484..1578"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS30682.1"
                     /db_xref="GeneID:4610"
                     /db_xref="HGNC:HGNC:7555"
                     /db_xref="MIM:164850"
ORIGIN      
        1 mdydsyqhyf ydydcgedfy rstapsediw kkfelvpspp tsppwglgpg agdpapgigp
       61 pepwpggctg deaesrghsk gwgrnyasii rrdcmwsgfs arerleravs drlapgaprg
      121 nppkasaapd ctpsleagnp apaapcplge pktqacsgse spsdseneei dvvtvekrqs
      181 lgirkpvtit vradpldpcm khfhisihqq qhnyaarfpp escsqeease rgpqeevler
      241 daagekedee deeivspppv eseaaqschp kpvssdtedv tkrknhnfle rkrrndlrsr
      301 flalrdqvpt lascskapkv vilskaleyl qalvgaekrm atekrqlrcr qqqlqkriay
      361 ltgy
//
LOCUS       NP_001355126             416 aa            linear   PRI 13-MAR-2023
DEFINITION  D-ribitol-5-phosphate cytidylyltransferase isoform c [Homo
            sapiens].
ACCESSION   NP_001355126 XP_011513802
VERSION     NP_001355126.1
DBSOURCE    REFSEQ: accession NM_001368197.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 416)
  AUTHORS   Hu Q, Gu Y, Chen S, Tian Y and Yang S.
  TITLE     Hsa_circ_0079480 promotes tumor progression in acute myeloid
            leukemia via miR-654-3p/HDGF axis
  JOURNAL   Aging (Albany NY) 13 (1), 1120-1131 (2020)
   PUBMED   33290265
  REMARK    GeneRIF: Hsa_circ_0079480 promotes tumor progression in acute
            myeloid leukemia via miR-654-3p/HDGF axis.
REFERENCE   2  (residues 1 to 416)
  AUTHORS   Song D, Fu X, Ge L, Chang X, Wei C, Liu J, Yang H, Qu S, Bao X,
            Toda T, Wu X and Xiong H.
  TITLE     A splice site mutation c.1251G>A of ISPD gene is a common cause of
            congenital muscular dystrophy in Chinese patients
  JOURNAL   Clin Genet 97 (5), 789-790 (2020)
   PUBMED   31909476
  REMARK    GeneRIF: A splice site mutation c.1251G>A of ISPD gene is a common
            cause of congenital muscular dystrophy in Chinese patients.
REFERENCE   3  (residues 1 to 416)
  AUTHORS   Sheikh MO, Halmo SM and Wells L.
  TITLE     Recent advancements in understanding mammalian O-mannosylation
  JOURNAL   Glycobiology 27 (9), 806-819 (2017)
   PUBMED   28810660
  REMARK    Review article
REFERENCE   4  (residues 1 to 416)
  AUTHORS   Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsee J, Halbout M,
            Graff J, Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I,
            Quijano-Roy S, Grahn A, Van Schaftingen E and Bommer GT.
  TITLE     ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol
            phosphate onto alpha-dystroglycan
  JOURNAL   Nat Commun 7, 11534 (2016)
   PUBMED   27194101
  REMARK    GeneRIF: ISPD and FKTN are essential for the incorporation of
            ribitol into alpha-dystroglycan.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 416)
  AUTHORS   Takata R, Matsuda K, Sugimura J, Obara W, Fujioka T, Okihara K,
            Takaha N, Miki T, Ashida S, Inoue K, Tanikawa C, Shuin T, Sasaki S,
            Kojima Y, Kohri K, Kubo M, Yamaguchi M, Ohnishi Y and Nakamura Y.
  TITLE     Impact of four loci on serum tamsulosin hydrochloride concentration
  JOURNAL   J Hum Genet 58 (1), 21-26 (2013)
   PUBMED   23151678
REFERENCE   6  (residues 1 to 416)
  AUTHORS   Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Devisme L,
            Quentin S, Gazal S, Laquerriere A, Fallet-Bianco C, Loget P, Odent
            S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonniere M,
            Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha
            K, Grandchamp B, Attie-Bitach T, Encha-Razavi F and Seta N.
  TITLE     Identification of mutations in TMEM5 and ISPD as a cause of severe
            cobblestone lissencephaly
  JOURNAL   Am J Hum Genet 91 (6), 1135-1143 (2012)
   PUBMED   23217329
  REMARK    GeneRIF: TMEM5 mutations were frequently associated with gonadal
            dysgenesis and neural tube defects, and ISPD mutations were
            frequently associated with brain vascular anomalies.
REFERENCE   7  (residues 1 to 416)
  AUTHORS   Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van
            den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE,
            Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou
            H, Veltman JA, Gilissen C, Mancini GM, Delree P, Willemsen MA,
            Ramadza DP, Chitayat D, Bennett C, Sheridan E, Peeters EA,
            Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H,
            El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY and van Bokhoven H.
  TITLE     Mutations in ISPD cause Walker-Warburg syndrome and defective
            glycosylation of alpha-dystroglycan
  JOURNAL   Nat Genet 44 (5), 581-585 (2012)
   PUBMED   22522421
  REMARK    GeneRIF: Mutations in ISPD cause Walker-Warburg syndrome and
            defective glycosylation of alpha-dystroglycan.
REFERENCE   8  (residues 1 to 416)
  AUTHORS   Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB,
            Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder
            AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA
            and Campbell KP.
  TITLE     ISPD loss-of-function mutations disrupt dystroglycan
            O-mannosylation and cause Walker-Warburg syndrome
  JOURNAL   Nat Genet 44 (5), 575-580 (2012)
   PUBMED   22522420
  REMARK    GeneRIF: ISPD loss-of-function mutations disrupt dystroglycan
            O-mannosylation and cause Walker-Warburg syndrome.
REFERENCE   9  (residues 1 to 416)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301468
REFERENCE   10 (residues 1 to 416)
  AUTHORS   Wylam ME, Samsel RW, Umans JG, Mitchell RW, Leff AR and Schumacker
            PT.
  TITLE     Endotoxin in vivo impairs endothelium-dependent relaxation of
            canine arteries in vitro
  JOURNAL   Am Rev Respir Dis 142 (6 Pt 1), 1263-1267 (1990)
   PUBMED   2252242
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079155.7, AC004741.2,
            AC073629.6 and AC006035.2.
            On Jan 26, 2019 this sequence version replaced XP_011513802.1.
            
            Summary: This gene encodes a 2-C-methyl-D-erythritol 4-phosphate
            cytidylyltransferase-like protein. Mutations in this gene are the
            cause of Walker-Warburg syndrome. Alternate splicing results in
            multiple transcript variants. [provided by RefSeq, May 2012].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.414169.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..416
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.2"
     Protein         1..416
                     /product="D-ribitol-5-phosphate cytidylyltransferase
                     isoform c"
                     /EC_number="2.7.7.40"
                     /note="4-diphosphocytidyl-2C-methyl-D-erythritol synthase
                     homolog; notch1-induced protein; 2-C-methyl-D-erythritol
                     4-phosphate cytidylyltransferase-like protein; testicular
                     tissue protein Li 97; D-ribitol-5-phosphate
                     cytidylyltransferase; isoprenoid synthase domain
                     containing"
                     /calculated_mol_wt=45788
     Region          47..260
                     /region_name="CDP-ME_synthetase"
                     /note="CDP-ME synthetase is involved in
                     mevalonate-independent isoprenoid production; cd02516"
                     /db_xref="CDD:133009"
     Site            order(52,54..59,66,123..126,129,156..158)
                     /site_type="active"
                     /note="substrate binding site [active]"
                     /db_xref="CDD:133009"
     Site            order(159,178,186,188,206..211,237..238,240..241,244,
                     249..252,257..258)
                     /site_type="active"
                     /note="dimer interface [active]"
                     /db_xref="CDD:133009"
     Region          248..416
                     /region_name="ISPD_C"
                     /note="D-ribitol-5-phosphate cytidylyltransferase
                     C-terminal domain; pfam18706"
                     /db_xref="CDD:436680"
     CDS             1..416
                     /gene="CRPPA"
                     /gene_synonym="hISPD; ISPD; LGMDR20; MDDGA7; MDDGC7; Nip"
                     /coded_by="NM_001368197.1:217..1467"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="GeneID:729920"
                     /db_xref="HGNC:HGNC:37276"
                     /db_xref="MIM:614631"
ORIGIN      
        1 meagppgsar paepgpclsg qrgadhtasa slqsvagtep grhpqavaav lpaggcgerm
       61 gvptpkqfcp ilerplisyt lqalervcwi kdivvavtge nmevmksiiq kyqhkrislv
      121 eagvtrhrsi fnglkalaed qinsklskpe vviihdavrp fveegvllkv vtaakehgaa
      181 gairplvstv vspsadgcld yslerarhra sempqaflfd viyeayqqvt ykrdlyaaes
      241 iikerisqei cvvmdteedn khvghlleev lkselnhvkv tsealghagr hlqqiildqc
      301 ynfvcvnvtt sdfqetqkll smleesslci lypvvvvsvh fldfklvpps qkmenlmqir
      361 efakevkern illygllisy pqddqklqes lrqgaiiias likernsgli gqllia
//
LOCUS       NP_982258                404 aa            linear   PRI 14-MAR-2023
DEFINITION  immediate early response gene 5-like protein [Homo sapiens].
ACCESSION   NP_982258 XP_372145
VERSION     NP_982258.2
DBSOURCE    REFSEQ: accession NM_203434.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 404)
  AUTHORS   Doi K, Takeuchi H and Sakurai H.
  TITLE     PP2A-B55 and its adapter proteins IER2 and IER5 regulate the
            activity of RB family proteins and the expression of cell
            cycle-related genes
  JOURNAL   FEBS J 290 (3), 745-762 (2023)
   PUBMED   36047562
REFERENCE   2  (residues 1 to 404)
  AUTHORS   Ueda T, Kohama Y and Sakurai H.
  TITLE     IER family proteins are regulators of protein phosphatase PP2A and
            modulate the phosphorylation status of CDC25A
  JOURNAL   Cell Signal 55, 81-89 (2019)
   PUBMED   30599213
  REMARK    GeneRIF: The results suggest that IER2, IER5, and IER5L proteins
            are target protein-specific regulators of PP2A (protein phosphatase
            2A) activity and modulate cell proliferation through CDC25A (cell
            division cycle 25A protein) activity.
REFERENCE   3  (residues 1 to 404)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM763373.1, BX458317.2, AL158151.16, BQ574938.1, CN293040.1 and
            BU676697.1.
            On Jun 8, 2007 this sequence version replaced NP_982258.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript is intronless :: DRR138511.42761.1, ERR279842.132.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372491.4/ ENSP00000361569.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..404
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     Protein         1..404
                     /product="immediate early response gene 5-like protein"
                     /calculated_mol_wt=41978
     Region          1..404
                     /region_name="IER"
                     /note="Immediate early response protein (IER); pfam05760"
                     /db_xref="CDD:428617"
     Region          86..107
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T953.1)"
     Region          160..231
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T953.1)"
     Region          308..327
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T953.1)"
     CDS             1..404
                     /gene="IER5L"
                     /gene_synonym="bA247A12.2"
                     /coded_by="NM_203434.3:210..1424"
                     /db_xref="CCDS:CCDS43888.1"
                     /db_xref="GeneID:389792"
                     /db_xref="HGNC:HGNC:23679"
ORIGIN      
        1 mecaldaqsl isislrkihs srtqrggikl hknllvsyvl rnarqlylse ryaelyrrqq
       61 qqqqqqpphh qhqhlayaap gmpasaadfg plqlggggda earepaarhq lhqlhqlhql
      121 hlqqqlhqhq hpaprgcaaa aaagapagga galselpgca alqpphgaph rgqpleplqp
      181 gpaplplplp ppapaalcpr dprapaacsa ppgaappaaa asppaspapa sspgfyrgay
      241 ptpsdfglhc ssqttvldld thvvttveng ylhqdccasa hcpccgqgap gpglasaagc
      301 krkyypgqee eeddeedagg lgaeppggap fapckrarfe dfcpdsspda snisnlisif
      361 gsgfsglvsr qpdsseqppp lngqlcakqa laslgawtra ivaf
//
LOCUS       NP_002268                416 aa            linear   PRI 14-MAR-2023
DEFINITION  keratin, type I cuticular Ha1 [Homo sapiens].
ACCESSION   NP_002268
VERSION     NP_002268.2
DBSOURCE    REFSEQ: accession NM_002277.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 416)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 416)
  AUTHORS   Du L, Zhang X, Chen L, Zhang L and Li H.
  TITLE     K31 as a novel marker for clear secretory cells in human eccrine
            sweat glands
  JOURNAL   J Mol Histol 51 (1), 47-53 (2020)
   PUBMED   31975318
  REMARK    GeneRIF: K31 as a novel marker for clear secretory cells in human
            eccrine sweat glands.
REFERENCE   3  (residues 1 to 416)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 416)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (residues 1 to 416)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (residues 1 to 416)
  AUTHORS   Winter H, Hofmann I, Langbein L, Rogers MA and Schweizer J.
  TITLE     A splice site mutation in the gene of the human type I hair keratin
            hHa1 results in the expression of a tailless keratin isoform
  JOURNAL   J Biol Chem 272 (51), 32345-32352 (1997)
   PUBMED   9405442
REFERENCE   7  (residues 1 to 416)
  AUTHORS   Fink P, Rogers MA, Korge B, Winter H and Schweizer J.
  TITLE     A cDNA encoding the human type I hair keratin hHal
  JOURNAL   Biochim Biophys Acta 1264 (1), 12-14 (1995)
   PUBMED   7578244
REFERENCE   8  (residues 1 to 416)
  AUTHORS   Bowden PE, Hainey S, Parker G and Hodgins MB.
  TITLE     Sequence and expression of human hair keratin genes
  JOURNAL   J Dermatol Sci 7 Suppl, S152-S163 (1994)
   PUBMED   7528047
REFERENCE   9  (residues 1 to 416)
  AUTHORS   Yu J, Yu DW, Checkla DM, Freedberg IM and Bertolino AP.
  TITLE     Human hair keratins
  JOURNAL   J Invest Dermatol 101 (1 Suppl), 56S-59S (1993)
   PUBMED   7686952
  REMARK    Review article
REFERENCE   10 (residues 1 to 416)
  AUTHORS   Dhouailly D, Xu C, Manabe M, Schermer A and Sun TT.
  TITLE     Expression of hair-related keratins in a soft epithelium:
            subpopulations of human and mouse dorsal tongue keratinocytes
            express keratin markers for hair-, skin- and esophageal-types of
            differentiation
  JOURNAL   Exp Cell Res 181 (1), 141-158 (1989)
   PUBMED   2465162
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Michael Rogers. The reference sequence was
            derived from AC003958.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 19, 2001 this sequence version replaced NP_002268.1.
            
            Summary: The protein encoded by this gene is a member of the
            keratin gene family. As a type I hair keratin, it is an acidic
            protein which heterodimerizes with type II keratins to form hair
            and nails. The type I hair keratins are clustered in a region of
            chromosome 17q12-q21 and have the same direction of transcription.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1002028.1, X86570.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA1970526 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000251645.3/ ENSP00000251645.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..416
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     Protein         1..416
                     /product="keratin, type I cuticular Ha1"
                     /note="keratin, hair, acidic,1; hard keratin, type I, 1;
                     K31; hair keratin, type I Ha1; keratin 31, type I"
                     /calculated_mol_wt=47106
     Region          1..56
                     /region_name="Head"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15323.3)"
     Region          55..366
                     /region_name="Filament"
                     /note="Intermediate filament protein; pfam00038"
                     /db_xref="CDD:425436"
     Region          57..91
                     /region_name="Coil 1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15323.3)"
     Region          92..102
                     /region_name="Linker 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15323.3)"
     Region          103..203
                     /region_name="Coil 1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15323.3)"
     Region          204..219
                     /region_name="Linker 12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15323.3)"
     Region          220..363
                     /region_name="Coil 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15323.3)"
     Site            305
                     /site_type="other"
                     /note="Stutter; propagated from UniProtKB/Swiss-Prot
                     (Q15323.3)"
     Region          364..416
                     /region_name="Tail"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15323.3)"
     CDS             1..416
                     /gene="KRT31"
                     /gene_synonym="Ha-1; HA1; hHa1; KRTHA1"
                     /coded_by="NM_002277.3:70..1320"
                     /db_xref="CCDS:CCDS11391.1"
                     /db_xref="GeneID:3881"
                     /db_xref="HGNC:HGNC:6448"
                     /db_xref="MIM:601077"
ORIGIN      
        1 mpynfclpsl scrtscssrp cvppschsct lpgacnipan vsncnwfceg sfngseketm
       61 qflndrlasy lekvrqlerd naelenlire rsqqqepllc psyqsyfkti eelqqkilct
      121 ksenarlvvq idnaklaadd frtkyqtels lrqlvesdin glrrildelt lcksdleaqv
      181 eslkeellcl ksnheqevnt lrcqlgdrln vevdaaptvd lnrvlnetrs qyealvetnr
      241 reveqwfttq teelnkqvvs sseqlqsyqa eiielrrtvn aleielqaqh nlrdslentl
      301 tesearyssq lsqvqslitn vesqlaeirs dlerqnqeyq vlldvrarle ceintyrsll
      361 esedcnlpsn pcattnacsk pigpclsnpc tscvppapct pcaprprcgp cnsfvr
//
LOCUS       NP_296374                117 aa            linear   PRI 14-MAR-2023
DEFINITION  60S ribosomal protein L34 [Homo sapiens].
ACCESSION   NP_296374 XP_005263230
VERSION     NP_296374.1
DBSOURCE    REFSEQ: accession NM_033625.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 117)
  AUTHORS   Zhu Y, Ren C, Jiang D, Yang L, Chen Y, Li F, Wang B and Zhang Y.
  TITLE     RPL34-AS1-induced RPL34 inhibits cervical cancer cell tumorigenesis
            via the MDM2-P53 pathway
  JOURNAL   Cancer Sci 112 (5), 1811-1821 (2021)
   PUBMED   33675124
  REMARK    GeneRIF: RPL34-AS1-induced RPL34 inhibits cervical cancer cell
            tumorigenesis via the MDM2-P53 pathway.
REFERENCE   2  (residues 1 to 117)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before
            and after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 117)
  AUTHORS   Lee JH, Han JH, Kim H, Park SM, Joe EH and Jou I.
  TITLE     Parkinson's disease-associated LRRK2-G2019S mutant acts through
            regulation of SERCA activity to control ER stress in astrocytes
  JOURNAL   Acta Neuropathol Commun 7 (1), 68 (2019)
   PUBMED   31046837
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 117)
  AUTHORS   Ji P, Wang L, Liu J, Mao P, Li R, Jiang H, Lou M, Xu M and Yu X.
  TITLE     Knockdown of RPL34 inhibits the proliferation and migration of
            glioma cells through the inactivation of JAK/STAT3 signaling
            pathway
  JOURNAL   J Cell Biochem 120 (3), 3259-3267 (2019)
   PUBMED   30216512
  REMARK    GeneRIF: Findings indicated that knockdown of RPL34 inhibits the
            proliferation and migration of glioma cells through the
            inactivation of JAK/STAT3 signaling pathway.
REFERENCE   5  (residues 1 to 117)
  AUTHORS   Hori H, Nakamura S, Yoshida F, Teraishi T, Sasayama D, Ota M,
            Hattori K, Kim Y, Higuchi T and Kunugi H.
  TITLE     Integrated profiling of phenotype and blood transcriptome for
            stress vulnerability and depression
  JOURNAL   J Psychiatr Res 104, 202-210 (2018)
   PUBMED   30103068
  REMARK    GeneRIF: The present study combines an individual-based phenotypic
            profiling with a transdiagnostic approach and shows that several
            ribosomal genes including RPL34 is involved in stress vulnerability
            across nonclinical and clinical conditions.
REFERENCE   6  (residues 1 to 117)
  AUTHORS   Yang S, Cui J, Yang Y, Liu Z, Yan H, Tang C, Wang H, Qin H, Li X,
            Li J, Wang W, Huang Y and Gao H.
  TITLE     Over-expressed RPL34 promotes malignant proliferation of non-small
            cell lung cancer cells
  JOURNAL   Gene 576 (1 Pt 3), 421-428 (2016)
   PUBMED   26526135
  REMARK    GeneRIF: over-expressed RPL34 may promote malignant proliferation
            of NSCLC cells, thus playing an important role in development and
            progress of NSCLC
REFERENCE   7  (residues 1 to 117)
  AUTHORS   Yoshihama M, Uechi T, Asakawa S, Kawasaki K, Kato S, Higa S, Maeda
            N, Minoshima S, Tanaka T, Shimizu N and Kenmochi N.
  TITLE     The human ribosomal protein genes: sequencing and comparative
            analysis of 73 genes
  JOURNAL   Genome Res 12 (3), 379-390 (2002)
   PUBMED   11875025
REFERENCE   8  (residues 1 to 117)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   9  (residues 1 to 117)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   10 (residues 1 to 117)
  AUTHORS   Rommens JM, Durocher F, McArthur J, Tonin P, LeBlanc JF, Allen T,
            Samson C, Ferri L, Narod S, Morgan K et al.
  TITLE     Generation of a transcription map at the HSD17B locus centromeric
            to BRCA1 at 17q21
  JOURNAL   Genomics 28 (3), 530-542 (1995)
   PUBMED   7490091
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC084209.6, CD175155.1,
            BC001773.1 and BM971961.1.
            On Aug 31, 2013 this sequence version replaced XP_005263230.1.
            
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L34E family of ribosomal proteins. It is located in the
            cytoplasm. This gene originally was thought to be located at 17q21,
            but it has been mapped to 4q. Overexpression of this gene has been
            observed in some cancer cells. Alternative splicing results in
            multiple transcript variants, all encoding the same isoform. As is
            typical for genes encoding ribosomal proteins, there are multiple
            processed pseudogenes of this gene dispersed through the genome.
            [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (2) represents the longest
            transcript. Variants 1-6 all encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC001773.1, SRR14038197.696778.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..117
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     Protein         1..117
                     /product="60S ribosomal protein L34"
                     /note="leukemia-associated protein; large ribosomal
                     subunit protein eL34"
                     /calculated_mol_wt=13162
     Region          1..96
                     /region_name="Ribosomal_L34e"
                     /note="Ribosomal protein L34e; pfam01199"
                     /db_xref="CDD:426119"
     Site            12
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P49207.3)"
     Site            36
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P49207.3)"
     Site            43
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9D1R9; propagated from
                     UniProtKB/Swiss-Prot (P49207.3)"
     CDS             1..117
                     /gene="RPL34"
                     /gene_synonym="eL34; L34"
                     /coded_by="NM_033625.4:147..500"
                     /db_xref="CCDS:CCDS3680.1"
                     /db_xref="GeneID:6164"
                     /db_xref="HGNC:HGNC:10340"
                     /db_xref="MIM:616862"
ORIGIN      
        1 mvqrltyrrr lsyntasnkt rlsrtpgnri vylytkkvgk apksacgvcp grlrgvravr
       61 pkvlmrlskt kkhvsraygg smcakcvrdr ikraflieeq kivvkvlkaq aqsqkak
//
LOCUS       NP_071436                311 aa            linear   PRI 15-MAR-2023
DEFINITION  V-type immunoglobulin domain-containing suppressor of T-cell
            activation precursor [Homo sapiens].
ACCESSION   NP_071436
VERSION     NP_071436.1
DBSOURCE    REFSEQ: accession NM_022153.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 311)
  AUTHORS   Mo J, Deng L, Peng K, Ouyang S, Ding W, Lou L, Lin Z, Zhu J, Li J,
            Zhang Q, Wang P, Wen Y, Chen X, Yue P, Lu JJ, Zhu K, Zheng Y, Wang
            Y and Zhang X.
  TITLE     Targeting STAT3-VISTA axis to suppress tumor aggression and burden
            in acute myeloid leukemia
  JOURNAL   J Hematol Oncol 16 (1), 15 (2023)
   PUBMED   36849939
  REMARK    GeneRIF: Targeting STAT3-VISTA axis to suppress tumor aggression
            and burden in acute myeloid leukemia.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 311)
  AUTHORS   Zhang Z, Li M, Wang J, Liu M, Chen H, Lou Y, Wang Y, Sun Q, Zhu D,
            Li P and Bi Y.
  TITLE     Expression and clinical significance of VISTA and PD-L1 in
            adrenocortical carcinoma
  JOURNAL   Endocr Relat Cancer 29 (7), 403-413 (2022)
   PUBMED   35521773
  REMARK    GeneRIF: Expression and clinical significance of VISTA and PD-L1 in
            adrenocortical carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 311)
  AUTHORS   Long L, Zhang L, Yang Y, Zhou Y and Chen H.
  TITLE     Different clinical significance of novel B7 family checkpoints
            VISTA and HHLA2 in human lung adenocarcinoma
  JOURNAL   Immunotherapy 14 (6), 419-431 (2022)
   PUBMED   35187955
  REMARK    GeneRIF: Different clinical significance of novel B7 family
            checkpoints VISTA and HHLA2 in human lung adenocarcinoma.
REFERENCE   4  (residues 1 to 311)
  AUTHORS   Tinca AC, Cocuz IG, Sincu MC, Niculescu R, Sabau AH, Chiorean DM,
            Szoke AR and Cotoi OS.
  TITLE     VISTA, PDL-L1, and BRAF-A Review of New and Old Markers in the
            Prognosis of Melanoma
  JOURNAL   Medicina (Kaunas) 58 (1), 74 (2022)
   PUBMED   35056382
  REMARK    GeneRIF: VISTA, PDL-L1, and BRAF-A Review of New and Old Markers in
            the Prognosis of Melanoma.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 311)
  AUTHORS   Kim MG, Yun D, Kang CL, Hong M, Hwang J, Moon KC, Jeong CW, Kwak C,
            Kim DK, Oh KH, Joo KW, Kim YS, Lee DS and Han SS.
  TITLE     Kidney VISTA prevents IFN-gamma/IL-9 axis-mediated
            tubulointerstitial fibrosis after acute glomerular injury
  JOURNAL   J Clin Invest 132 (1) (2022)
   PUBMED   34752423
  REMARK    GeneRIF: Kidney VISTA prevents IFN-gamma/IL-9 axis-mediated
            tubulointerstitial fibrosis after acute glomerular injury.
REFERENCE   6  (residues 1 to 311)
  AUTHORS   Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X,
            Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X,
            Xu H, Guo M, Pan Z, Chen Y, Ge C, Yang S and Gu J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   7  (residues 1 to 311)
  AUTHORS   Zhang Z and Henzel WJ.
  TITLE     Signal peptide prediction based on analysis of experimentally
            verified cleavage sites
  JOURNAL   Protein Sci 13 (10), 2819-2824 (2004)
   PUBMED   15340161
REFERENCE   8  (residues 1 to 311)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   9  (residues 1 to 311)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD,
            Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird
            G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson
            T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan
            S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou
            T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore
            N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J,
            Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead
            SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T,
            Doucette-Stamm L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   10 (residues 1 to 311)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY358379.1 and AL731541.6.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.102915.1,
                                           SRR1803613.107577.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394957.8/ ENSP00000378409.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..311
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     Protein         1..311
                     /product="V-type immunoglobulin domain-containing
                     suppressor of T-cell activation precursor"
                     /note="platelet receptor GI24; sisp-1; stress-induced
                     secreted protein-1; Death Domain1alpha; V-domain Ig
                     suppressor of T cell activation; V-set domain-containing
                     immunoregulatory receptor; V-type immunoglobulin
                     domain-containing suppressor of T-cell activation; PDCD1
                     homolog"
                     /calculated_mol_wt=30666
     sig_peptide     1..32
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3261
     Region          34..181
                     /region_name="IgV_VISTA"
                     /note="Immunoglobulin variable (IgV) domain of V-domain
                     immunoglobulin suppressor of T cell activation (VISTA);
                     cd20980"
                     /db_xref="CDD:409572"
     Region          34..56
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409572"
     Region          34..37
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409572"
     Region          40..45
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409572"
     Region          48..57
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409572"
     Site            49
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9H7M9.3)"
     Region          57..67
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409572"
     Region          67..73
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409572"
     Region          68..74
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409572"
     Region          75..102
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409572"
     Site            91
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9H7M9.3)"
     Region          99..102
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409572"
     Region          105..151
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409572"
     Region          119..123
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409572"
     Region          128..134
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409572"
     Site            128
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9H7M9.3)"
     Region          142..152
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409572"
     Region          152..155
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409572"
     Region          155..169
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409572"
     Region          156..181
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409572"
     Region          178..181
                     /region_name="Ig strand H"
                     /note="Ig strand H [structural motif]"
                     /db_xref="CDD:409572"
     Site            195..215
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H7M9.3)"
     Site            235
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9H7M9.3)"
     Site            248
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9H7M9.3)"
     Region          267..311
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H7M9.3)"
     CDS             1..311
                     /gene="VSIR"
                     /gene_synonym="B7-H5; B7H5; C10orf54; DD1alpha; Dies1;
                     GI24; PD-1H; PP2135; SISP1; VISTA"
                     /coded_by="NM_022153.2:82..1017"
                     /db_xref="CCDS:CCDS31218.1"
                     /db_xref="GeneID:64115"
                     /db_xref="HGNC:HGNC:30085"
                     /db_xref="MIM:615608"
ORIGIN      
        1 mgvptaleag swrwgsllfa lflaaslgpv aafkvatpys lyvcpegqnv tltcrllgpv
       61 dkghdvtfyk twyrssrgev qtcserrpir nltfqdlhlh hgghqaants hdlaqrhgle
      121 sasdhhgnfs itmrnltlld sglycclvve irhhhsehrv hgamelqvqt gkdapsncvv
      181 ypsssqdsen itaaalatga civgilclpl illlvykqrq aasnrraqel vrmdsniqgi
      241 enpgfeaspp aqgipeakvr hplsyvaqrq psesgrhlls epstplsppg pgdvffpsld
      301 pvpdspnfev i
//
LOCUS       NP_001350654            1539 aa            linear   PRI 17-MAR-2023
DEFINITION  AT-rich interactive domain-containing protein 1B isoform 4 [Homo
            sapiens].
ACCESSION   NP_001350654 XP_016866598
VERSION     NP_001350654.1
DBSOURCE    REFSEQ: accession NM_001363725.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1539)
  AUTHORS   Reddy D, Bhattacharya S, Levy M, Zhang Y, Gogol M, Li H, Florens L
            and Workman JL.
  TITLE     Paraspeckles interact with SWI/SNF subunit ARID1B to regulate
            transcription and splicing
  JOURNAL   EMBO Rep 24 (1), e55345 (2023)
   PUBMED   36354291
  REMARK    GeneRIF: Paraspeckles interact with SWI/SNF subunit ARID1B to
            regulate transcription and splicing.
REFERENCE   2  (residues 1 to 1539)
  AUTHORS   Tan Y, Chen J, Li Y, Liu Y, Wang Y, Xia S, Chen L, Wei W and Chen
            Z.
  TITLE     Three Novel ARID1B Variations in Coffin-Siris Syndrome Patients
  JOURNAL   Neurol India 70 (5), 2174-2179 (2022)
   PUBMED   36352633
  REMARK    GeneRIF: Three Novel ARID1B Variations in Coffin-Siris Syndrome
            Patients.
REFERENCE   3  (residues 1 to 1539)
  AUTHORS   Azad P, Caldwell AB, Ramachandran S, Spann NJ, Akbari A,
            Villafuerte FC, Bermudez D, Zhao H, Poulsen O, Zhou D, Bafna V,
            Subramaniam S and Haddad GG.
  TITLE     ARID1B, a molecular suppressor of erythropoiesis, is essential for
            the prevention of Monge's disease
  JOURNAL   Exp Mol Med 54 (6), 777-787 (2022)
   PUBMED   35672450
  REMARK    GeneRIF: ARID1B, a molecular suppressor of erythropoiesis, is
            essential for the prevention of Monge's disease.
REFERENCE   4  (residues 1 to 1539)
  AUTHORS   Hurlstone AF, Olave IA, Barker N, van Noort M and Clevers H.
  TITLE     Cloning and characterization of hELD/OSA1, a novel BRG1 interacting
            protein
  JOURNAL   Biochem J 364 (Pt 1), 255-264 (2002)
   PUBMED   11988099
  REMARK    GeneRIF: Cloning and characterization of hELD/OSA1, a novel BRG1
            interacting protein.
REFERENCE   5  (residues 1 to 1539)
  AUTHORS   Phelan ML, Sif S, Narlikar GJ and Kingston RE.
  TITLE     Reconstitution of a core chromatin remodeling complex from SWI/SNF
            subunits
  JOURNAL   Mol Cell 3 (2), 247-253 (1999)
   PUBMED   10078207
REFERENCE   6  (residues 1 to 1539)
  AUTHORS   Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber
            C, Mandel JL, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G,
            Agid Y and Brice A.
  TITLE     Cloning of the gene for spinocerebellar ataxia 2 reveals a locus
            with high sensitivity to expanded CAG/glutamine repeats
  JOURNAL   Nat Genet 14 (3), 285-291 (1996)
   PUBMED   8896557
REFERENCE   7  (residues 1 to 1539)
  AUTHORS   Wang W, Xue Y, Zhou S, Kuo A, Cairns BR and Crabtree GR.
  TITLE     Diversity and specialization of mammalian SWI/SNF complexes
  JOURNAL   Genes Dev 10 (17), 2117-2130 (1996)
   PUBMED   8804307
REFERENCE   8  (residues 1 to 1539)
  AUTHORS   Vergano,S.A., van der Sluijs,P.J. and Santen,G.
  TITLE     ARID1B-Related Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31132234
REFERENCE   9  (residues 1 to 1539)
  AUTHORS   Schrier Vergano,S., Santen,G., Wieczorek,D., Wollnik,B.,
            Matsumoto,N. and Deardorff,M.A.
  TITLE     Coffin-Siris Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23556151
REFERENCE   10 (residues 1 to 1539)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049820.23 and AL591545.6.
            On May 29, 2018 this sequence version replaced XP_016866598.1.
            
            Summary: This locus encodes an AT-rich DNA interacting
            domain-containing protein. The encoded protein is a component of
            the SWI/SNF chromatin remodeling complex and may play a role in
            cell-cycle activation. The protein encoded by this locus is similar
            to AT-rich interactive domain-containing protein 1A. These two
            proteins function as alternative, mutually exclusive ARID-subunits
            of the SWI/SNF complex. The associated complexes play opposing
            roles. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (4) differs in the 5' UTR and
            coding sequence compared to variant 3. The resulting isoform (4) is
            shorter at the N-terminus compared to isoform 3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3891561.1,
                                           SRR1803613.13873.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2156670
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1539
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.3"
     Protein         1..1539
                     /product="AT-rich interactive domain-containing protein 1B
                     isoform 4"
                     /note="BRG1-binding protein ELD/OSA1; ELD (eyelid)/OSA
                     protein; BRG1-associated factor 250b; ARID
                     domain-containing protein 1B; AT rich interactive domain
                     1B (SWI1-like)"
                     /calculated_mol_wt=167679
     Region          <1..>236
                     /region_name="Med15"
                     /note="ARC105 or Med15 subunit of Mediator complex
                     non-fungal; pfam09606"
                     /db_xref="CDD:312941"
     Region          357..449
                     /region_name="ARID_ARID1B"
                     /note="ARID/BRIGHT DNA binding domain of AT-rich
                     interactive domain-containing protein 1B (ARID1B) and
                     similar proteins; cd16877"
                     /db_xref="CDD:350641"
     Site            order(379..385,410,412..413,416,426,428..430,432)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:350641"
     Region          470..>850
                     /region_name="Med15"
                     /note="ARC105 or Med15 subunit of Mediator complex
                     non-fungal; pfam09606"
                     /db_xref="CDD:312941"
     Region          1230..1485
                     /region_name="BAF250_C"
                     /note="SWI/SNF-like complex subunit BAF250/Osa; pfam12031"
                     /db_xref="CDD:432275"
     CDS             1..1539
                     /gene="ARID1B"
                     /gene_synonym="6A3-5; BAF250B; BRIGHT; CSS1; DAN15;
                     ELD/OSA1; MRD12; OSA2; P250R; SMARCF2"
                     /coded_by="NM_001363725.2:390..5009"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS87460.1"
                     /db_xref="GeneID:57492"
                     /db_xref="HGNC:HGNC:18040"
                     /db_xref="MIM:614556"
ORIGIN      
        1 mppqppgsqs essshpalsq spmpqergfm agtqrnpqma qygpqqtgps msphpspggq
       61 mhagissfqq snssgtygpq msqygpqgny srppaysgvp sasysgpgpg mgisannqmh
      121 gqgpsqpcga vplgrmpsag mqnrpfpgnm ssmtpsspgm sqqggpgmgp pmptvnrkaq
      181 eaaaavmqaa ansaqsrqgs fpgmnqsglm assspysqpm nnssslmntq appysmapam
      241 vnssaasvgl admmspgesk lplplkadgk eegtpqpesk skdsyssqgi sqpptpgnlp
      301 vpspmspssa sissfhgdes dsisspgwpk tpsspkssss tttgekitkv yelgneperk
      361 lwvdryltfm eergspvssl pavgkkpldl frlyvcvkei gglaqvnknk kwrelatnln
      421 vgtsssaass lkkqyiqylf afeckierge epppevfstg dtkkqpklqp pspansgslq
      481 gpqtpqstgs nsmaevpgdl kpptpastph gqmtpmqggr sstisvhdpf sdvsdssfpk
      541 rnsmtpnapy qqgmsmpdvm grmpyepnkd pfggmrkvpg ssepfmtqgq mpnssmqdmy
      601 nqspsgamsn lgmgqrqqfp ygasydrrhe pygqqypgqg ppsgqppygg hqpglypqqp
      661 nykrhmdgmy gppakrhegd mynmqyssqq qemynqyggs ysgpdrrpiq gqypypysre
      721 rmqgpgqiqt hgippqmmgg plqssssegp qqnmwaarnd mpypyqnrqg pggptqappy
      781 pgmnrtddmm vpdqrinhes qwpshvsqrq pymsssasmq pitrppqpsy qtppslpnhi
      841 srapspasfq rslenrmsps kspflpsmkm qkvmptvpts qvtgpppqpp pirreitfpp
      901 gsveasqpvl kqrrkitskd ivtpeawrvm mslksgllae stwaldtini llyddstvat
      961 fnlsqlsgfl ellveyfrkc lidifgilme yevgdpsqka ldhnaarkdd sqsladdsgk
     1021 eeedaecidd deedeedeee dsektesdek ssialtapda aadpkekpkq askfdklpik
     1081 ivkknnlfvv drsdklgrvq efnsgllhwq lgggdttehi qthfeskmei pprrrppppl
     1141 ssagrkkeqe gkgdseeqqe ksiiatiddv lsarpgalpe danpgpqtes skfpfgiqqa
     1201 kshrniklle deprsrdetp lctiahwqds lakrcicvsn ivrslsfvpg ndaemskhpg
     1261 lvlilgklil lhhehperkr apqtyekeed edkgvacskd ewwwdclevl rdntlvtlan
     1321 isgqldlsay tesiclpild gllhwmvcps aeaqdpfptv gpnsvlspqr lvletlckls
     1381 iqdnnvdlil atppfsrqek fyatlvryvg drknpvcrem smallsnlaq gdalaaraia
     1441 vqkgsignli sfledgvtma qyqqsqhnlm hmqppplepp svdmmcraak allamarvde
     1501 nrsefllheg rlldisisav lnslvasvic dvlfqigql
//
LOCUS       NP_149045               1955 aa            linear   PRI 17-MAR-2023
DEFINITION  protocadherin-15 isoform CD1-4 precursor [Homo sapiens].
ACCESSION   NP_149045 XP_373461 XP_943022
VERSION     NP_149045.3
DBSOURCE    REFSEQ: accession NM_033056.4
KEYWORDS    RefSeq; MANE Plus Clinical.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1955)
  AUTHORS   Zhen Y, Cullen CL, Ricci R, Summers BS, Rehman S, Ahmed ZM, Foster
            AY, Emery B, Gasperini R and Young KM.
  TITLE     Protocadherin 15 suppresses oligodendrocyte progenitor cell
            proliferation and promotes motility through distinct signalling
            pathways
  JOURNAL   Commun Biol 5 (1), 511 (2022)
   PUBMED   35637313
  REMARK    GeneRIF: Protocadherin 15 suppresses oligodendrocyte progenitor
            cell proliferation and promotes motility through distinct
            signalling pathways.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1955)
  AUTHORS   Choudhary D, Narui Y, Neel BL, Wimalasena LN, Klanseck CF,
            De-la-Torre P, Chen C, Araya-Secchi R, Tamilselvan E and Sotomayor
            M.
  TITLE     Structural determinants of protocadherin-15 mechanics and function
            in hearing and balance perception
  JOURNAL   Proc Natl Acad Sci U S A 117 (40), 24837-24848 (2020)
   PUBMED   32963095
  REMARK    GeneRIF: Structural determinants of protocadherin-15 mechanics and
            function in hearing and balance perception.
REFERENCE   3  (residues 1 to 1955)
  AUTHORS   Ahmed ZM, Riazuddin S, Aye S, Ali RA, Venselaar H, Anwar S,
            Belyantseva PP, Qasim M, Riazuddin S and Friedman TB.
  TITLE     Gene structure and mutant alleles of PCDH15: nonsyndromic deafness
            DFNB23 and type 1 Usher syndrome
  JOURNAL   Hum Genet 124 (3), 215-223 (2008)
   PUBMED   18719945
  REMARK    GeneRIF: study of PCDH15 mutations in nonsyndromic deafness DFNB23
            and type 1 Usher syndrome
REFERENCE   4  (residues 1 to 1955)
  AUTHORS   Baux D, Faugere V, Larrieu L, Le Guedard-Mereuze S, Hamroun D,
            Beroud C, Malcolm S, Claustres M and Roux AF.
  TITLE     UMD-USHbases: a comprehensive set of databases to record and
            analyse pathogenic mutations and unclassified variants in seven
            Usher syndrome causing genes
  JOURNAL   Hum Mutat 29 (8), E76-E87 (2008)
   PUBMED   18484607
REFERENCE   5  (residues 1 to 1955)
  AUTHORS   Alagramam KN, Miller ND, Adappa ND, Pitts DR, Heaphy JC, Yuan H and
            Smith RJ.
  TITLE     Promoter, alternative splice forms, and genomic structure of
            protocadherin 15
  JOURNAL   Genomics 90 (4), 482-492 (2007)
   PUBMED   17706913
  REMARK    GeneRIF: Both mouse and human protocadherin 15 genes have complex
            genomic structures and transcription control mechanisms.
REFERENCE   6  (residues 1 to 1955)
  AUTHORS   Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy
            CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C,
            Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP
            and Smith RJ.
  TITLE     Mutations in the novel protocadherin PCDH15 cause Usher syndrome
            type 1F
  JOURNAL   Hum Mol Genet 10 (16), 1709-1718 (2001)
   PUBMED   11487575
  REMARK    GeneRIF: Mutations cause Usher syndrome type 1F. Protocadherins are
            essential for maintenance of normal retinal and cochlear function.
            Erratum:[Hum Mol Genet 2001 Oct 15;10(22):2603. Hagemen GS
            [corrected to Hageman GS]]
REFERENCE   7  (residues 1 to 1955)
  AUTHORS   Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ,
            Morell RJ, Friedman TB, Riazuddin S and Wilcox ER.
  TITLE     Mutations of the protocadherin gene PCDH15 cause Usher syndrome
            type 1F
  JOURNAL   Am J Hum Genet 69 (1), 25-34 (2001)
   PUBMED   11398101
REFERENCE   8  (residues 1 to 1955)
  AUTHORS   Alagramam KN, Murcia CL, Kwon HY, Pawlowski KS, Wright CG and
            Woychik RP.
  TITLE     The mouse Ames waltzer hearing-loss mutant is caused by mutation of
            Pcdh15, a novel protocadherin gene
  JOURNAL   Nat Genet 27 (1), 99-102 (2001)
   PUBMED   11138007
REFERENCE   9  (residues 1 to 1955)
  AUTHORS   Shearer,A.E., Hildebrand,M.S. and Smith,R.J.H.
  TITLE     Hereditary Hearing Loss and Deafness Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
REFERENCE   10 (residues 1 to 1955)
  AUTHORS   Koenekoop,R.K., Arriaga,M.A., Trzupek,K.M. and Lentz,J.J.
  TITLE     Usher Syndrome Type I
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301442
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC051618.7, AL356114.12,
            AL353784.15, AL360214.19, AC013737.5, AC024073.7, AC027671.9,
            AC016817.6 and AL365496.15.
            On or before May 4, 2007 this sequence version replaced
            XP_373461.1, XP_943022.1, NP_149045.2.
            
            Summary: This gene is a member of the cadherin superfamily. Family
            members encode integral membrane proteins that mediate
            calcium-dependent cell-cell adhesion. It plays an essential role in
            maintenance of normal retinal and cochlear function. Mutations in
            this gene result in hearing loss and Usher Syndrome Type IF
            (USH1F). Extensive alternative splicing resulting in multiple
            isoforms has been observed in the mouse ortholog. Similar
            alternatively spliced transcripts are inferred to occur in human,
            and additional variants are likely to occur. [provided by RefSeq,
            Dec 2008].
            
            Transcript Variant: This variant (C) lacks two alternate in-frame
            exons in the 5' and 3' coding region, compared to variant A. The
            resulting isoform (CD1-4) lacks a 5-aa segment near the N-terminus
            and a 2-aa segment near the C-terminus, compared to isoform CD1-1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY029237.1, AY029205.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000320301.11/ ENSP00000322604.6
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1955
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.1"
     Protein         1..1955
                     /product="protocadherin-15 isoform CD1-4 precursor"
                     /note="cadherin-related family member 15"
                     /calculated_mol_wt=213106
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2983
     mat_peptide     27..1955
                     /product="protocadherin-15 isoform CD1-4"
                     /calculated_mol_wt=213106
     Region          31..140
                     /region_name="ECD"
                     /note="Extracellular Cadherin domain; pfam18432"
                     /db_xref="CDD:408229"
     Site            52
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Site            97
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          151..240
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            201
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          305..393
                     /region_name="CA"
                     /note="Cadherin repeats; smart00112"
                     /db_xref="CDD:214520"
     Region          399..505
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(406..407,470,472,501,503..504)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            419
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          513..609
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(520..521,572,574,607,609)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            559
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          621..713
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(627..628,677,679,709,711..712)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            662
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          722..815
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            724
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Site            order(729..730,778,780,811,813..814)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            768
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Site            821
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          823..921
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(830..831,881,883,918,920..921)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            851
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          930..1027
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Region          1045..1140
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(1047..1048,1096,1098,1136,1138..1139)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            1064
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Site            1084
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          1149..1243
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            1175
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Site            1377..1397
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          1426..1446
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          1601..1623
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          1745..1766
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          1928..1955
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QU1.2)"
     CDS             1..1955
                     /gene="PCDH15"
                     /gene_synonym="CDHR15; DFNB23; USH1F"
                     /coded_by="NM_033056.4:336..6203"
                     /note="isoform CD1-4 precursor is encoded by transcript
                     variant C"
                     /db_xref="CCDS:CCDS7248.1"
                     /db_xref="GeneID:65217"
                     /db_xref="HGNC:HGNC:14674"
                     /db_xref="MIM:605514"
ORIGIN      
        1 mfrqfylwtc lasgiilgsl feiclgqydd dcklarggpp ativaidees rngtilvdnm
       61 likgtaggpd ptielslkdn vdywvlmdpv kqmlflnstg rvldrdppmn ihsivvqvqc
      121 inkkvgtiiy hevrivvrdr ndnsptfkhe syyatvnelt pvgttiftgf sgdngatdid
      181 dgpngqieyv iqynpddpts ndtfeiplml tgnivlrkrl nyedktryfv iiqandraqn
      241 lnerrttttt ltvdvldgdd lgpmflpcvl vpntrdcrpl tyqaaipelr tpeelnpiiv
      301 tppiqaidqd rniqppsdrp gilysilvgt pedyprffhm hprtaelsll epvnrdfhqk
      361 fdlvikaeqd nghplpafag lhieildenn qspyftmpsy qgyilesapv gatisdslnl
      421 tsplrivald kdiedtkdpe lhlflndyts vftvtqtgit ryltllqpvd reeqqtytfs
      481 itafdgvqes epvivniqvm dandntptfp eisydvyvyt dmrpgdsviq ltavdadegs
      541 ngeityeilv gaqgdfiink ttglitiapg vemivgrtya ltvqaadnap paerrnsict
      601 vyievlppnn qspprfpqlm ysleiseamr vgavllnlqa tdregdsity aiengdpqrv
      661 fnlsettgil tlgkaldres tdryiliita sdgrpdgtst atvnivvtdv ndnapvfdpy
      721 lprnlsvvee eanafvgqvk atdpdaging qvhyslgnfn nlfritsngs iytavklnre
      781 vrdyyelvvv atdgavhprh stltlaikvl diddnspvft nstytvlvee nlpagttilq
      841 ieakdvdlga nvsyrirspe vkhffalhpf tgelsllrsl dyeafpdqea sitflveafd
      901 iygtmppgia tvtvivkdmn dyppvfskri ykgmvapdav kgtpittvya edadppglpa
      961 srvryrvddv qfpypasife veedsgrvit rvnlneeptt ifklvvvafd dgepvmsssa
     1021 tvkilvlhpg eiprftqeey rpppvselat kgtmvgvisa aainqsivys ivsgneedtf
     1081 ginnitgviy vngpldyetr tsyvlrvqad slevvlanlr vpsksntakv yieiqdennh
     1141 ppvfqkkfyi ggvsedarmf tsvlrvkatd kdtgnysvma yrliippike gkegfvvety
     1201 tgliktamlf hnmrrsyfkf qviatddygk glsgkadvlv svvnqldmqv ivsnvpptlv
     1261 ekkiedltei ldryvqeqip gakvvvesig arrhgdafsl edytkcdltv yaidpqtnra
     1321 idrnelfkfl dgklldinkd fqpyygeggr ileirtpeav tsikkrgesl gytegallal
     1381 afiiilccip ailvvlvsyr qfkvrqaect ktariqaalp aakpavpapa pvaapppppp
     1441 pppgahlyee lgdssilfll yhfqqsrgnn svsedrkhqq vvmpfssnti eahksahvdg
     1501 slksnklksa rkftflsded dlsahnplyk enisqvstns disqrtdfvd pfspkiqaks
     1561 kslrgpreki qrlwsqsvsl prrlmrkvpn rpeiidlqqw qgtrqkaene ntgictnkrg
     1621 ssnpllttee anltekeeir qgetlmiegt eqlkslssds sfcfprphfs fstlptvsrt
     1681 velksepnvi sspaecslel spsrpcvlhs slsrretpic mlpieterni fenfahppni
     1741 spsacplppp ppisppsppp apaplapppd ispfslfcpp psppsiplpl ppptffplsv
     1801 stsgpptppl lppfptplpp pppsipcppp psasflstec vcitgvkctt nlmpaekiks
     1861 smtqlstttv cktdpqrepk gilrhvknla eleksvanmy sqieknylrt nvselqtmcp
     1921 sevtnmeits eqnkgslnni vegtekqshs qstsl
//
LOCUS       NP_001339097             281 aa            linear   PRI 19-MAR-2023
DEFINITION  protein LMBR1L isoform 9 [Homo sapiens].
ACCESSION   NP_001339097 XP_011536868
VERSION     NP_001339097.1
DBSOURCE    REFSEQ: accession NM_001352168.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 281)
  AUTHORS   Liu W, Jiang X, Li X, Sun K, Yang Y, Yang M, Li S and Zhu X.
  TITLE     LMBR1L regulates the proliferation and migration of endothelial
            cells through Norrin/beta-catenin signaling
  JOURNAL   J Cell Sci 135 (6) (2022)
   PUBMED   35146515
  REMARK    GeneRIF: LMBR1L regulates the proliferation and migration of
            endothelial cells through Norrin/beta-catenin signaling.
REFERENCE   2  (residues 1 to 281)
  AUTHORS   Choi JH, Zhong X, McAlpine W, Liao TC, Zhang D, Fang B, Russell J,
            Ludwig S, Nair-Gill E, Zhang Z, Wang KW, Misawa T, Zhan X, Choi M,
            Wang T, Li X, Tang M, Sun Q, Yu L, Murray AR, Moresco EMY and
            Beutler B.
  TITLE     LMBR1L regulates lymphopoiesis through Wnt/beta-catenin signaling
  JOURNAL   Science 364 (6440) (2019)
   PUBMED   31073040
  REMARK    GeneRIF: LMBR1L has an essential function during lymphopoiesis and
            lymphoid activation, acting as a negative regulator of the
            Wnt/beta-catenin pathway.
REFERENCE   3  (residues 1 to 281)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   4  (residues 1 to 281)
  AUTHORS   Hesselink RW and Findlay JB.
  TITLE     Expression, characterization and ligand specificity of lipocalin-1
            interacting membrane receptor (LIMR)
  JOURNAL   Mol Membr Biol 30 (5-6), 327-337 (2013)
   PUBMED   23964685
  REMARK    GeneRIF: LIMR was shown to be highly specific for Lcn1, binding the
            lipocalin with low micromolar to high nanomolar affinity
REFERENCE   5  (residues 1 to 281)
  AUTHORS   Dartt DA.
  TITLE     Tear lipocalin: structure and function
  JOURNAL   Ocul Surf 9 (3), 126-138 (2011)
   PUBMED   21791187
  REMARK    GeneRIF: The receptor to which lipocalin binds is termed tear
            lipocalin-interacting membrane receptor and it appears to work by
            endocytosis.
            Review article
REFERENCE   6  (residues 1 to 281)
  AUTHORS   Fluckinger M, Merschak P, Hermann M, Haertle T and Redl B.
  TITLE     Lipocalin-interacting-membrane-receptor (LIMR) mediates cellular
            internalization of beta-lactoglobulin
  JOURNAL   Biochim Biophys Acta 1778 (1), 342-347 (2008)
   PUBMED   17991420
  REMARK    GeneRIF: Human LIMR, known to act as an endocytic receptor for
            lipocalin-1, also binds bovine BLG and mediates its cellular
            uptake.
REFERENCE   7  (residues 1 to 281)
  AUTHORS   Zhang Z, Kim SJ, Chowdhury B, Wang J, Lee YC, Tsai PC, Choi M and
            Mukherjee AB.
  TITLE     Interaction of uteroglobin with lipocalin-1 receptor suppresses
            cancer cell motility and invasion
  JOURNAL   Gene 369, 66-71 (2006)
   PUBMED   16423471
REFERENCE   8  (residues 1 to 281)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   9  (residues 1 to 281)
  AUTHORS   Wojnar P, Lechner M and Redl B.
  TITLE     Antisense down-regulation of lipocalin-interacting membrane
            receptor expression inhibits cellular internalization of
            lipocalin-1 in human NT2 cells
  JOURNAL   J Biol Chem 278 (18), 16209-16215 (2003)
   PUBMED   12591932
  REMARK    GeneRIF: LIMR mediating internalization of lipocalin-1 (Lcn-1) in
            NT2 cells, leading to its degradation.
REFERENCE   10 (residues 1 to 281)
  AUTHORS   Wojnar P, Lechner M, Merschak P and Redl B.
  TITLE     Molecular cloning of a novel lipocalin-1 interacting human cell
            membrane receptor using phage display
  JOURNAL   J Biol Chem 276 (23), 20206-20212 (2001)
   PUBMED   11287427
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011603.37.
            On Jun 7, 2017 this sequence version replaced XP_011536868.1.
            
            Transcript Variant: This variant (11), as well as variant 10,
            encodes isoform 9.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.3326547.1,
                                           SRR1803612.276854.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..281
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     Protein         1..281
                     /product="protein LMBR1L isoform 9"
                     /note="lipocalin-interacting membrane receptor; protein
                     LMBR1L; lipocalin-1 interacting membrane receptor; limb
                     region 1 protein homolog-like; limb region 1 homolog-like;
                     limb region 1-like protein -like; limb development
                     membrane protein 1 like-protein"
                     /calculated_mol_wt=31089
     Region          <61..244
                     /region_name="LMBR1"
                     /note="LMBR1-like membrane protein; pfam04791"
                     /db_xref="CDD:428125"
     CDS             1..281
                     /gene="LMBR1L"
                     /gene_synonym="LIMR"
                     /coded_by="NM_001352168.2:852..1697"
                     /note="isoform 9 is encoded by transcript variant 11"
                     /db_xref="GeneID:55716"
                     /db_xref="HGNC:HGNC:18268"
                     /db_xref="MIM:610007"
ORIGIN      
        1 mtfgstispt sthaspslgf ccswlledle eqlycsafee aaltrricnp tscwlpldme
       61 llhrqvlalq tqrvllekrr kasawqrnlg yplamlcllv ltglsvliva ihilellide
      121 aamprgmqgt slgqvsfskl gsfgaviqvv lifylmvssv vgfyssplfr slrprwhdta
      181 mtqiigncvc llvlssalpv fsrtlgltrf dllgdfgrfn wlgnfyivfl ynaafagltt
      241 lclvktftaa vraelirafg ldrlplpvsg fpqasrktqh q
//
LOCUS       NP_001337671             725 aa            linear   PRI 19-MAR-2023
DEFINITION  SRSF protein kinase 2 isoform f [Homo sapiens].
ACCESSION   NP_001337671 XP_016868049
VERSION     NP_001337671.1
DBSOURCE    REFSEQ: accession NM_001350742.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 725)
  AUTHORS   Fonteneau G, Redding A, Hoag-Lee H, Sim ES, Heinrich S, Gaida MM
            and Grabocka E.
  TITLE     Stress Granules Determine the Development of Obesity-Associated
            Pancreatic Cancer
  JOURNAL   Cancer Discov 12 (8), 1984-2005 (2022)
   PUBMED   35674408
  REMARK    GeneRIF: Stress Granules Determine the Development of
            Obesity-Associated Pancreatic Cancer.
REFERENCE   2  (residues 1 to 725)
  AUTHORS   Zheng X, Sun Z, Yu L, Shi D, Zhu M, Yao H and Li L.
  TITLE     Interactome Analysis of the Nucleocapsid Protein of SARS-CoV-2
            Virus
  JOURNAL   Pathogens 10 (9), 1155 (2021)
   PUBMED   34578187
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 725)
  AUTHORS   Khatun M, Sur S, Steele R, Ray R and Ray RB.
  TITLE     Inhibition of Long Noncoding RNA Linc-Pint by Hepatitis C Virus in
            Infected Hepatocytes Enhances Lipogenesis
  JOURNAL   Hepatology 74 (1), 41-54 (2021)
   PUBMED   33236406
  REMARK    GeneRIF: Inhibition of Long Noncoding RNA Linc-Pint by Hepatitis C
            Virus in Infected Hepatocytes Enhances Lipogenesis.
REFERENCE   4  (residues 1 to 725)
  AUTHORS   Liu H, Gong Z, Li K, Zhang Q, Xu Z and Xu Y.
  TITLE     SRPK1/2 and PP1alpha exert opposite functions by modulating
            SRSF1-guided MKNK2 alternative splicing in colon adenocarcinoma
  JOURNAL   J Exp Clin Cancer Res 40 (1), 75 (2021)
   PUBMED   33602301
  REMARK    GeneRIF: SRPK1/2 and PP1alpha exert opposite functions by
            modulating SRSF1-guided MKNK2 alternative splicing in colon
            adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 725)
  AUTHORS   Yaron,T.M., Heaton,B.E., Levy,T.M., Johnson,J.L., Jordan,T.X.,
            Cohen,B.M., Kerelsky,A., Lin,T.Y., Liberatore,K.M., Bulaon,D.K.,
            Kastenhuber,E.R., Mercadante,M.N., Shobana-Ganesh,K., He,L.,
            Schwartz,R.E., Chen,S., Weinstein,H., Elemento,O., Piskounova,E.,
            Nilsson-Payant,B.E., Lee,G., Trimarco,J.D., Burke,K.N.,
            Hamele,C.E., Chaparian,R.R., Harding,A.T., Tata,A., Zhu,X.,
            Tata,P.R., Smith,C.M., Possemato,A.P., Tkachev,S.L., Hornbeck,P.V.,
            Beausoleil,S.A., Anand,S.K., Aguet,F., Getz,G., Davidson,A.D.,
            Heesom,K., Kavanagh-Williamson,M., Matthews,D., tenOever,B.R.,
            Cantley,L.C., Blenis,J. and Heaton,N.S.
  TITLE     The FDA-approved drug Alectinib compromises SARS-CoV-2 nucleocapsid
            phosphorylation and inhibits viral infection in vitro
  JOURNAL   bioRxiv (2020)
   PUBMED   32817937
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 725)
  AUTHORS   Koizumi J, Okamoto Y, Onogi H, Mayeda A, Krainer AR and Hagiwara M.
  TITLE     The subcellular localization of SF2/ASF is regulated by direct
            interaction with SR protein kinases (SRPKs)
  JOURNAL   J Biol Chem 274 (16), 11125-11131 (1999)
   PUBMED   10196197
REFERENCE   7  (residues 1 to 725)
  AUTHORS   Wang HY, Lin W, Dyck JA, Yeakley JM, Songyang Z, Cantley LC and Fu
            XD.
  TITLE     SRPK2: a differentially expressed SR protein-specific kinase
            involved in mediating the interaction and localization of pre-mRNA
            splicing factors in mammalian cells
  JOURNAL   J Cell Biol 140 (4), 737-750 (1998)
   PUBMED   9472028
REFERENCE   8  (residues 1 to 725)
  AUTHORS   Kuroyanagi N, Onogi H, Wakabayashi T and Hagiwara M.
  TITLE     Novel SR-protein-specific kinase, SRPK2, disassembles nuclear
            speckles
  JOURNAL   Biochem Biophys Res Commun 242 (2), 357-364 (1998)
   PUBMED   9446799
REFERENCE   9  (residues 1 to 725)
  AUTHORS   Bedford MT, Chan DC and Leder P.
  TITLE     FBP WW domains and the Abl SH3 domain bind to a specific class of
            proline-rich ligands
  JOURNAL   EMBO J 16 (9), 2376-2383 (1997)
   PUBMED   9171351
REFERENCE   10 (residues 1 to 725)
  AUTHORS   Gui JF, Lane WS and Fu XD.
  TITLE     A serine kinase regulates intracellular localization of splicing
            factors in the cell cycle
  JOURNAL   Nature 369 (6482), 678-682 (1994)
   PUBMED   8208298
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073138.3, AC004884.1 and AC005070.1.
            On Apr 22, 2017 this sequence version replaced XP_016868049.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.29752.1,
                                           SRR1660807.106473.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..725
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.3"
     Protein         1..725
                     /product="SRSF protein kinase 2 isoform f"
                     /EC_number="2.7.11.1"
                     /note="SFRS protein kinase 2; serine/arginine-rich
                     splicing factor kinase 2; SR protein kinase 2;
                     serine/threonine-protein kinase SRPK2; serine kinase
                     SRPK2; SR-protein-specific kinase 2; serine/arginine-rich
                     protein-specific kinase 2"
                     /calculated_mol_wt=81757
     Region          105..>293
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(124..127,130,132,145,147,183,203..206,251,255..256,
                     258)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     Region          <378..420
                     /region_name="2A1904"
                     /note="K+-dependent Na+/Ca+ exchanger; TIGR00927"
                     /db_xref="CDD:273344"
     Region          <541..723
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..725
                     /gene="SRPK2"
                     /gene_synonym="SFRSK2"
                     /coded_by="NM_001350742.2:119..2296"
                     /note="isoform f is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS94172.1"
                     /db_xref="GeneID:6733"
                     /db_xref="HGNC:HGNC:11306"
                     /db_xref="MIM:602980"
ORIGIN      
        1 meqraarpag cwpfrpesgg rkernirkki kqkiellmsv nseksssser pepqqkaplv
       61 pppppppppp ppplpdptpp epeeeilgsd deeqedpady ckggyhpvki gdlfngryhv
      121 irklgwghfs tvwlcwdmqg krfvamkvvk saqhytetal deikllkcvr esdpsdpnkd
      181 mvvqliddfk isgmngihvc mvfevlghhl lkwiiksnyq glpvrcvksi irqvlqgldy
      241 lhskckiiht dikpenilmc vddayvrrma aeatewqkag apppsgsavs tapqqkpigk
      301 isknkkkklk kkqkrqaell ekrlqeieel ereaerkiie enitsaapsn dqdgeycpev
      361 klkttgleea aeaetakdng eaedqeeked aekeniekde ddvdqelani dptwiespkt
      421 nghiengpfs leqqlddedd deedcpnpee ynldepnaes dytysssyeq fngelpngrh
      481 kipesqfpef stslfsgsle pvacgsvlse gsplteqees spshdrsrtv sasstgdlpk
      541 aktraadllv npldprnadk irvkiadlgn acwvhkhfte diqtrqyrsi evligagyst
      601 padiwstacm afelatgdyl fephsgedys rdedhiahii ellgsiprhf alsgkysref
      661 fnrrgelrhi tklkpwslfd vlvekygwph edaaqftdfl ipmlemvpek rasageclrh
      721 pwlns
//
LOCUS       NP_001291412             471 aa            linear   PRI 19-MAR-2023
DEFINITION  FYVE, RhoGEF and PH domain-containing protein 4 isoform 4 [Homo
            sapiens].
ACCESSION   NP_001291412 XP_006719093
VERSION     NP_001291412.1
DBSOURCE    REFSEQ: accession NM_001304483.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 471)
  AUTHORS   Yang Y, Jia J, Sun Z, Liu C, Li Z, Xiao Y, Yu J, Du F, Shi Y, Sun
            J, Shui J and Zhang X.
  TITLE     Polymorphism of FGD4 and myelosuppression in patients with
            esophageal squamous cell carcinoma
  JOURNAL   Future Oncol 17 (18), 2351-2363 (2021)
   PUBMED   33709789
  REMARK    GeneRIF: Polymorphism of FGD4 and myelosuppression in patients with
            esophageal squamous cell carcinoma.
REFERENCE   2  (residues 1 to 471)
  AUTHORS   Lin J, Huang H, Lin L, Li W and Huang J.
  TITLE     MiR-23a induced the activation of CDC42/PAK1 pathway and cell cycle
            arrest in human cov434 cells by targeting FGD4
  JOURNAL   J Ovarian Res 13 (1), 90 (2020)
   PUBMED   32772928
  REMARK    GeneRIF: MiR-23a induced the activation of CDC42/PAK1 pathway and
            cell cycle arrest in human cov434 cells by targeting FGD4.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 471)
  AUTHORS   Dai X, Liu J, Guo X, Cheng A, Deng X, Guo L and Wang Z.
  TITLE     Circular RNA circFGD4 suppresses gastric cancer progression via
            modulating miR-532-3p/APC/beta-catenin signalling pathway
  JOURNAL   Clin Sci (Lond) 134 (13), 1821-1839 (2020)
   PUBMED   32633323
  REMARK    GeneRIF: Circular RNA circFGD4 suppresses gastric cancer
            progression via modulating miR-532-3p/APC/beta-catenin signalling
            pathway.
REFERENCE   4  (residues 1 to 471)
  AUTHORS   Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R,
            Giguet-Valard AG, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V,
            Desvignes JP, Beroud C, Nguyen K, Verschueren A, Levy N, Attarian
            S, Delague V, Missirian C and Bonello-Palot N.
  TITLE     Identification of novel pathogenic copy number variations in
            Charcot-Marie-Tooth disease
  JOURNAL   J Hum Genet 65 (3), 313-323 (2020)
   PUBMED   31852984
  REMARK    GeneRIF: Identification of novel pathogenic copy number variations
            in Charcot-Marie-Tooth disease.
REFERENCE   5  (residues 1 to 471)
  AUTHORS   Rabizadeh S and Bredesen DE.
  TITLE     Ten years on: mediation of cell death by the common neurotrophin
            receptor p75(NTR)
  JOURNAL   Cytokine Growth Factor Rev 14 (3-4), 225-239 (2003)
   PUBMED   12787561
  REMARK    Review article
REFERENCE   6  (residues 1 to 471)
  AUTHORS   Salehi AH, Xanthoudakis S and Barker PA.
  TITLE     NRAGE, a p75 neurotrophin receptor-interacting protein, induces
            caspase activation and cell death through a JNK-dependent
            mitochondrial pathway
  JOURNAL   J Biol Chem 277 (50), 48043-48050 (2002)
   PUBMED   12376548
REFERENCE   7  (residues 1 to 471)
  AUTHORS   Harrington AW, Kim JY and Yoon SO.
  TITLE     Activation of Rac GTPase by p75 is necessary for c-jun N-terminal
            kinase-mediated apoptosis
  JOURNAL   J Neurosci 22 (1), 156-166 (2002)
   PUBMED   11756498
REFERENCE   8  (residues 1 to 471)
  AUTHORS   Delague,V.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 4H - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23926620
REFERENCE   9  (residues 1 to 471)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 4 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301641
REFERENCE   10 (residues 1 to 471)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI756188.1, BC045552.1,
            BC096746.1, AL832064.1 and AC090440.16.
            On Jan 28, 2015 this sequence version replaced XP_006719093.1.
            
            Summary: This gene encodes a protein that is involved in the
            regulation of the actin cytoskeleton and cell shape. This protein
            contains an actin filament-binding domain, which together with its
            Dbl homology domain and one of its pleckstrin homology domains, can
            form microspikes. This protein can activate MAPK8 independently of
            the actin filament-binding domain, and it is also involved in the
            activation of CDC42 via the exchange of bound GDP for free GTP. The
            activation of CDC42 also enables this protein to play a role in
            mediating the cellular invasion of Cryptosporidium parvum, an
            intracellular parasite that infects the gastrointestinal tract.
            Mutations in this gene can cause Charcot-Marie-Tooth disease type
            4H (CMT4H), a disorder of the peripheral nervous system. Multiple
            alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jan
            2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC045552.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     Protein         1..471
                     /product="FYVE, RhoGEF and PH domain-containing protein 4
                     isoform 4"
                     /note="actin-filament binding protein frabin; FGD1 family,
                     member 4; FGD1-related F-actin-binding protein; zinc
                     finger FYVE domain-containing protein 6"
                     /calculated_mol_wt=54093
     Region          <2..143
                     /region_name="RhoGEF"
                     /note="RhoGEF domain; pfam00621"
                     /db_xref="CDD:425783"
     Site            order(66,94..95,98..99,101..102,105..106,109..110,113,139,
                     143)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          175..268
                     /region_name="PH1_FDG4"
                     /note="FYVE, RhoGEF and PH domain containing/faciogenital
                     dysplasia proteins 4, N-terminal Pleckstrin homology (PH)
                     domain; cd15791"
                     /db_xref="CDD:275434"
     Region          306..370
                     /region_name="FYVE_FGD1_2_4"
                     /note="FYVE domain found in FYVE, RhoGEF and PH
                     domain-containing protein facio-genital dysplasia FGD1,
                     FGD2, FGD4; cd15741"
                     /db_xref="CDD:277280"
     Site            order(308,311,330..335,337..338,361..363)
                     /site_type="other"
                     /note="putative phosphatidylinositol 3-phosphate binding
                     site [chemical binding]"
                     /db_xref="CDD:277280"
     Region          389..>440
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     CDS             1..471
                     /gene="FGD4"
                     /gene_synonym="CMT4H; FRABP; ZFYVE6"
                     /coded_by="NM_001304483.2:1266..2681"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:121512"
                     /db_xref="HGNC:HGNC:19125"
                     /db_xref="MIM:611104"
ORIGIN      
        1 mvnkifsnis sinafhskfl lpelekrmqe wettprigdi lqklapflkm ygeyvkgfdn
       61 amelvknmte ripqfksvve eiqkqkicgs ltlqhhmlep vqripryeml lkdylrklpp
      121 dsldwndakk sleiistaas hsnsairkme nlkklleiye mlgeeedivn psnelikegq
      181 ilklaarnts aqerylflfn nmllycvpkf slvgskftvr trvgidgmki vetqneeyph
      241 tfqvsgkert lelqassaqd keewikalqe tidafhqrhe tfrnaiakdn dihsevstae
      301 lgkraprwir dnevtmcmkc kepfnaltrr rhhcracgyv vcwkcsdyka qleydggkls
      361 kvckdcyqii sgftdseekk rkgileiesa evsgnsvvcs flqymekskp wqkawcvipk
      421 qdplvlymyg apqvskphls egtdalggkg krvdsglkic rtrvqavslf h
//
LOCUS       NP_075561               3197 aa            linear   PRI 19-MAR-2023
DEFINITION  ciliogenesis and planar polarity effector 1 isoform 2 [Homo
            sapiens].
ACCESSION   NP_075561 XP_002342531
VERSION     NP_075561.3
DBSOURCE    REFSEQ: accession NM_023073.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 3197)
  AUTHORS   Fei H, Wu Y, Wang Y and Zhang J.
  TITLE     Exome sequencing and RNA analysis identify two novel CPLANE1
            variants causing Joubert syndrome
  JOURNAL   Mol Genet Genomic Med 10 (3), e1877 (2022)
   PUBMED   35092359
  REMARK    GeneRIF: Exome sequencing and RNA analysis identify two novel
            CPLANE1 variants causing Joubert syndrome.
REFERENCE   2  (residues 1 to 3197)
  AUTHORS   Zhang X, Shen Y, Li P, Cai R, Lu C, Li Q, Chen C, Yu Y, Cheng T,
            Wang X, Luo M, Cao M, Cao Z and Ma X.
  TITLE     Clinical heterogeneity and intrafamilial variability of Joubert
            syndrome in two siblings with CPLANE1 variants
  JOURNAL   Mol Genet Genomic Med 9 (6), e1682 (2021)
   PUBMED   33822487
  REMARK    GeneRIF: Clinical heterogeneity and intrafamilial variability of
            Joubert syndrome in two siblings with CPLANE1 variants.
REFERENCE   3  (residues 1 to 3197)
  AUTHORS   Zhu H, Chen W, Ren H, Zhang Y, Niu Y, Wu D and Jiang L.
  TITLE     Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause
            Joubert syndrome in a fetus with severe craniocerebral dysplasia
  JOURNAL   Eur J Med Genet 64 (6), 104212 (2021)
   PUBMED   33794348
REFERENCE   4  (residues 1 to 3197)
  AUTHORS   Ueda S, Goto M, Hashimoto K, Imazawa M, Takahashi M, Oh-Iwa I,
            Shimozato K, Nagao T and Nomoto S.
  TITLE     Salivary CPLANE1 Levels as a Biomarker of Oral Squamous Cell
            Carcinoma
  JOURNAL   Anticancer Res 41 (2), 765-772 (2021)
   PUBMED   33517281
  REMARK    GeneRIF: Salivary CPLANE1 Levels as a Biomarker of Oral Squamous
            Cell Carcinoma.
REFERENCE   5  (residues 1 to 3197)
  AUTHORS   Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L,
            Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P,
            Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noel C, Shboul M,
            Ho L, Guven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V,
            Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C,
            Franco B, Riviere JB, Faivre L and Attie-Bitach T.
  TITLE     C5orf42 is the major gene responsible for OFD syndrome type VI
  JOURNAL   Hum Genet 133 (3), 367-377 (2014)
   PUBMED   24178751
  REMARK    GeneRIF: We identified causal C5orf42 mutations in 9/11 families
            meeting OFD VI diagnostic criteria, but no mutation in individuals
            with partly overlapping features.
REFERENCE   6  (residues 1 to 3197)
  AUTHORS   Shaheen R, Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi
            E, Ansari S, Sogaty S, Seidahmed MZ, AlMotairi MI, Farra C, Kurdi
            W, Al-Rasheed S and Alkuraya FS.
  TITLE     Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked
            genetic heterogeneity and novel candidate genes
  JOURNAL   Eur J Hum Genet 21 (7), 762-768 (2013)
   PUBMED   23169490
  REMARK    GeneRIF: Exome sequencing revealed a likely pathogenic mutation in
            three novel candidate MKS disease genes-C5orf42, EVC2 and SEC8
            (also known as EXOC4), which encodes an exocyst protein with an
            established role in ciliogenesis
REFERENCE   7  (residues 1 to 3197)
  AUTHORS   Lim YM, Koh I, Park YM, Kim JJ, Kim DS, Kim HJ, Baik KH, Choi HY,
            Yang GS, Also-Rallo E, Tizzano EF, Gamez J, Park K, Yoo HW, Lee JK
            and Kim KK.
  TITLE     Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility
            genes for monomelic amyotrophy
  JOURNAL   Neuromuscul Disord 22 (5), 394-400 (2012)
   PUBMED   22264561
  REMARK    GeneRIF: C5orf42 and KIAA1377 gene synergistically play a role as
            susceptibility genes for monomelic amyotrophy.
REFERENCE   8  (residues 1 to 3197)
  AUTHORS   Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda
            D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh
            S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Desilets V,
            Maranda B, Rouleau GA, Majewski J and Michaud JL.
  CONSRTM   FORGE Canada Consortium
  TITLE     Mutations in C5ORF42 cause Joubert syndrome in the French Canadian
            population
  JOURNAL   Am J Hum Genet 90 (4), 693-700 (2012)
   PUBMED   22425360
  REMARK    GeneRIF: The data suggested that mutations in C5ORF42 explain a
            large percentage of French Canadian individuals with Joubert
            syndrome.
REFERENCE   9  (residues 1 to 3197)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (residues 1 to 3197)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025449.6, DB448866.1,
            KF457889.1, DW009949.1, DW009948.1, DW009997.1, DW009996.1,
            AW996738.1, DN831769.1, EG327639.1, DW009792.1, DY655086.1,
            BC144069.1 and AL833065.2.
            On or before Jul 8, 2009 this sequence version replaced
            XP_002342531.1, NP_075561.2.
            
            Summary: The protein encoded by this gene has putative coiled-coil
            domains and may be a transmembrane protein. Defects in this gene
            are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May
            2012].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments. No
            full-length mRNA has been cloned for this gene.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..3197
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     Protein         1..3197
                     /product="ciliogenesis and planar polarity effector 1
                     isoform 2"
                     /note="protein JBTS17; transmembrane protein
                     ENSP00000382582; ciliogenesis and planar polarity effector
                     1; Heart Under Glass"
                     /calculated_mol_wt=361616
     Site            592..612
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H799.4)"
     Site            631..651
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H799.4)"
     Region          1822..1852
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H799.4)"
     Region          2118..2188
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H799.4)"
     Site            2407
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H799.4)"
     Region          2453..2477
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H799.4)"
     Region          2771..2793
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H799.4)"
     Region          2810..2831
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H799.4)"
     Region          2860..3190
                     /region_name="Joubert"
                     /note="Joubert syndrome-associated; pfam15392"
                     /db_xref="CDD:434690"
     Region          2982..3013
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H799.4)"
     Region          3140..3160
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H799.4)"
     CDS             1..3197
                     /gene="CPLANE1"
                     /gene_synonym="C5orf42; Hug; JBTS17; OFD6"
                     /coded_by="NM_023073.4:180..9773"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS34146.2"
                     /db_xref="GeneID:65250"
                     /db_xref="HGNC:HGNC:25801"
                     /db_xref="MIM:614571"
ORIGIN      
        1 meirleilts tgikqkkpwp rvswlgkeke avfllddkfi neinllsgki kkkipslqpf
       61 lkdvivltts sndawlagvl ttgelflwnk dqdclktipi tekpkemika tvasslrlyl
      121 yvsgngkriv litpsgcifl weylelknil sskslslagr wsqvipeeav llpstedkea
      181 vvnavfikne lfgdcclcsf tfysgeclkl tflairwhen vftsvrslpy hvhwaqqdch
      241 lcslipkces vksrgalisa fsrdgltlav tlnqkdpkat qvlfintlnf vtlcgslkgc
      301 snkspvvpat lirsywvgdi swthdslfla cmlkrgslvl ltcqgelltl itfgcsiefg
      361 paefiplhpl ityrpqqftf qdsnnsvdss asdsdpmrqr fsikahsrlp ylvisdgymv
      421 ttlrfldsls psvhmrslll dstqrlekiy qsvilskpkg kglnlrslns lrssllehqg
      481 nessadftvp kflqaeetin enaadfqdfe aeetnegrhf pdnlcpfwnk rddvlcssmk
      541 egrlefasmf dtihakddse etdrtitelh siqksllaaw tigisktvte knlmlnyivv
      601 cithffyilq fikcpfpkld lvlskssrhn awilcifqlf hqclsihywd irykqdvghl
      661 ikltsntvkl lltqqqkgql fsekllacfy llkmvadnln gvyilqpevi sasadgskit
      721 aqdslvvpif qmfqdsgfqk nwswnsffki hpqvvnpvqq pghrllilwr ilykktlwyq
      781 aqlnrrvpea dsqltekmth eastvksllc hlqanlqstg dclnqtlelk singeecfll
      841 gsyeksvqlw kkalqeieek ggrrtyflqi ryylsllych lysynlndaq glcdqlarei
      901 lrwsqlpvke nkdfsgaaks hfecgmvggv hpeaavrvvq smarfmaayf tnqqlcilpp
      961 hhvnvlpplh ikteqsfrli plqhskvasv vrdqnlsnvw tveyalellf igglvpeavw
     1021 layklgdwkt svsigvafql fckrdsnfmr skkkslnlpl rmtpaqifqe klqcvlgqpa
     1081 sleaknemgs kykqftdpie eedanllfgs vqevlkasvm adadilsetf qllidsakdf
     1141 skrlwglvpf glylpapply cpqpailsee dgddlllkae knnrqkvsgi lqrvlllfra
     1201 aqcsfpvaqw yilqlrwark vmqkirmkgs lpslspfpqs llnyckggia ffrpgaagdh
     1261 kldevsirai gcfrelcalc wmlhvrdkls yscrqyqkar envkgekdle vefdscmieh
     1321 clsavewayr mlpfsrffnm eeliqdiils ligelppirk vaeifvkafp ypedvrvplr
     1381 dkyhslhqrl rhcvvkgpqt eemmsvvmhs iqkvrvkalk rvqrnigsfe vniwepieee
     1441 kpdeapgvdr yslgtslsrs tltelgdsvv hsdadtfsea lsveeksrin iyqrnapnhm
     1501 eltsihkptd krkmcnqken ptkkedhekl sqntlpvigv weferdddey ikfldlflsy
     1561 ilerdlpysr dadipfltsf sgklreheln sllfdvhttl krhqsktksq nvfragscfv
     1621 vapesyesek ssslndeygm hlenqklsss vlvnqgikpf lqypsnevnk negmsglfgl
     1681 kqrsiykiqd dtrekcliqr ssnhifwtpk siktrrcifk aiqcndinpq edlplalntf
     1741 gsigrllewm irwsnrrllc dsgitessse yspvirvkts taailtslwl leqpyfatyk
     1801 aknaiikmve nrdtgcqigp nieresksda ggsvavatpg gteerngqnk scqnilnrmp
     1861 teaknpdike inddiisith ntkkefidid enlleveaft eeemdmhisd yeedieesvg
     1921 gfrspslaic mmtlpqqlee efteevqcqr eepletimee ksteqkgmie afshpghttp
     1981 qsmqvdtsse issaqistyk eksssvplli sngvnvasqp paptpqktqr neftaqlpdc
     2041 sesvrqmlqd emfklvqlqq infmslmqiv gssfanlpdt qqlvqqsqsv hlgesqesnl
     2101 rgcgdvedsn knlkerffik pqsmgenare prknsphche gtipsgqnst gnvqnvphgs
     2161 iplcqlngqp rkkgpipssq nlpstsfypa pagnthlyll stpsvvqkap rliphaktfs
     2221 pgdgfpllqf kskqefqplf lhtgsipqvp frplpqprea wglsdsfqpa lpqraaqttp
     2281 ashlnvsqyn tearkkeveq ktwaetvite ipnhvnldqy vgqenltpqq dssvfikpek
     2341 lfdvkpgtle isphhsfglp llylplkppn mfpstsrasi tvpstpiqpi aeerkyprls
     2401 llhshlspen rckktqlipl enliafkqsq qklthnlfeq gdaghlqllk vkieppevrq
     2461 gkdskkrqrr raekelqekr ceklrrkpnv tfrpensiin nddseiikkp keqqehcgsh
     2521 plddfdvpfe mlqddntsag lhfmasvkkk aigsqdastn tdpeheplta pqllvpdvyl
     2581 nlklssemse kpwspsipht vtnlelpvre epsndnvikq qsdhlavpss aelhymaasv
     2641 tnavpphnfk sqglpkpefr fkgqstksds aedyllwkrl qgvsaacpap ssaahqlehl
     2701 saklqkideq llaiqniaen ieqdfpkpem ldlhcdkigp vdhiefssgp efkktlaskt
     2761 isiseevrfl thmdeedqsd kketsepefs itenysgqkt cvfptadsav slssssdqnt
     2821 tspgmnssde lcesvsvhpl qmtgltdiad iiddliikdg vsseelglte qamgtsriqh
     2881 ysgrhsqrtd kerreiqawm krkrkermak ylnelaekrg qehdpfcprs nplymtsrei
     2941 rlrqkmkhek drlllsehys rrisqayglm nellsesvql ptlpqkplpn kpsptqsssc
     3001 qhcpsprgen qhghsflinr pgkvkymskp syihkrksfg qpqgspwphg tatftiqkka
     3061 ggakaavrka tqspvtfqkg snapchslqh tkkhgsagla pqtkqvcvey ereetvvspw
     3121 tipseihkil heshnsllqd lspteeeepe hpfgvggvds vsestgsils kldwnaiedm
     3181 vasvedqgls vhwaldl
//
LOCUS       XP_047304888            1013 aa            linear   PRI 20-MAR-2023
DEFINITION  protein 4.1 isoform X2 [Homo sapiens].
ACCESSION   XP_047304888
VERSION     XP_047304888.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448932.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1013
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1013
                     /product="protein 4.1 isoform X2"
                     /calculated_mol_wt=112739
     Region          211..401
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          396..489
                     /region_name="FERM_C_4_1_family"
                     /note="FERM domain C-lobe of Protein 4.1 family; cd13184"
                     /db_xref="CDD:270005"
     Site            order(405,422,424,430)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270005"
     Site            order(434,439..442,477,481,484..485)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Site            477..488
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Region          499..542
                     /region_name="FA"
                     /note="FERM adjacent (FA); pfam08736"
                     /db_xref="CDD:430180"
     Region          666..714
                     /region_name="SAB"
                     /note="SAB domain; pfam04382"
                     /db_xref="CDD:427911"
     Region          902..1009
                     /region_name="4_1_CTD"
                     /note="4.1 protein C-terminal domain (CTD); pfam05902"
                     /db_xref="CDD:428665"
     CDS             1..1013
                     /gene="EPB41"
                     /gene_synonym="4.1R; EL1; HE"
                     /coded_by="XM_047448932.1:208..3249"
                     /db_xref="GeneID:2035"
                     /db_xref="HGNC:HGNC:3377"
                     /db_xref="MIM:130500"
ORIGIN      
        1 mttekslvte aensqhqqke egeeainsgq qepqqeescq taaegdnwce qklkasngdt
       61 pthedltknk ertsesrgls rlfssflkrp ksqvseeegk evesdkekge ggqkeiefgt
      121 sldeeiilka piaapepelk tdpsldlhsl ssaetqpaqe elredpdfei kegegleecs
      181 kievkeespq skaetelkas qkpirkhrnm hckvsllddt vyecvvekha kgqdllkrvc
      241 ehlnlleedy fglaiwdnat sktwldsake ikkqvrgvpw nftfnvkfyp pdpaqltedi
      301 tryylclqlr qdivagrlpc sfatlallgs ytiqselgdy dpelhgvdyv sdfklapnqt
      361 keleekvmel hksyrsmtpa qadleflena kklsmygvdl hkakdlegvd iilgvcssgl
      421 lvykdklrin rfpwpkvlki sykrssffik irpgeqeqye stigfklpsy raakklwkvc
      481 vehhtffrlt stdtipkskf lalgskfrys grtqaqtrqa salidrpaph fertaskras
      541 rsldgaavds adrsprptsa paitqgqvae ggvldasakk tvvpkaqket vkaevkkede
      601 ppeqaepept eawkvekthi evtvptsngd qtqklaekte dlirmrkkkr erldgeniyi
      661 rhsnlmledl dksqeeikkh hasiselkkn fmesvpeprp sewdkrlsth spfrtlning
      721 qiptgegsin girteevavv tkgpstnpds ewegpkhsvv psksqmttss eslqsfafgs
      781 lsissketee keegaagyld ikemprgptg gcigveeqas alkfsvtpas cqlqpgvkka
      841 esseehvtpg eppgkqngsf ldfhvgnqfp tlirsfqppl vktqtvtisd nanavkseip
      901 tkdvpivhte tktityeaaq tddnsgdldp gvlltaqtit setpsstttt qitktvkggi
      961 setriekriv itgdadidhd qvlvqaikea keqhpdmsvt kvvvhqetei ade
//
LOCUS       XP_047284344            1240 aa            linear   PRI 20-MAR-2023
DEFINITION  SCL-interrupting locus protein isoform X5 [Homo sapiens].
ACCESSION   XP_047284344
VERSION     XP_047284344.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428388.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1240
                     /product="SCL-interrupting locus protein isoform X5"
                     /calculated_mol_wt=137613
     Region          33..388
                     /region_name="STIL_N"
                     /note="SCL-interrupting locus protein N-terminus;
                     pfam15253"
                     /db_xref="CDD:434575"
     CDS             1..1240
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /coded_by="XM_047428388.1:239..3961"
                     /db_xref="GeneID:6491"
                     /db_xref="HGNC:HGNC:10879"
                     /db_xref="MIM:181590"
ORIGIN      
        1 mepiypfarp qmntrfpssr mvpfhfppsk calwnptptg dfiylhlsyy rnpklvvtek
       61 tirlayrhak qnkknsscfl lgsltadede egvtltvdrf dpgrevpecl eitptaslpg
      121 dflipckvht qelcsremiv hsvddfssal kalqchicsk dsldcalarn lssnlnisqv
      181 qgtykygylt mdetrkllll lesdpkvysl plvgiwlsgi thiyspqvwa cclryifnss
      241 vqervfsesg nfiivlysmt hkepefyecf pcdgkipdfr fqlltsketl hlfknveppd
      301 knpircelsa esqnaeteff skasknfsik rssqklssgk mpihdhdsgv ededfsprpi
      361 psphpvsqki skiqpsvpel slvldgnfie snplptplem vnnenpplin hlehlkplqp
      421 qlydekhspe veagepslrg ipnqlnqdkp allrhckvrq ppaykkgnph trnsikpssh
      481 ngpshdifek lqtvsagnvq neeypirpst lnsrqsslap qsqphdfvfs phnsgrpmel
      541 qiptpplpsy cstnvcrccq hhshiqyspl nswqgantvg siqdvqseal qkhslfhpsg
      601 cpalycnafc sssspialrp qgdmgscsph sniepspvar ppshmdlcnp qpctvcmhtp
      661 ktesdngmmg lspdayrflt eqdrqlrllq aqiqrlleaq slmpcspktt avedtvqagr
      721 qmelvsveaq sspglhmrkg vsiavstgas lfwnaagedq epdsqmkqdd tkissedmnf
      781 svdinnevts lpgsasslka vdipsfeesn iaveeefnqp lsvsnsslvv rkepdvpvff
      841 psgqlaesvs mclqtgptgg asnnsetsee pkiehvmqpl lhqpsdnqki yqdllgqvnh
      901 llnssskete qpstkaviis hectrtqnvy htkkkthhsr lvdkdcvlna tlkqlrslgv
      961 kidsptkvkk nahnvdhasv lacispeavi sglncmsfan vgmsglspng vdlsmeanai
     1021 alkylnenql sqlsvtrsnq nncdpfsllh intdrstvgl slispnnmsf atkkymkryg
     1081 llqssdnsed eeeppdnads kseyllnqnl rsipeqlggq kepskndhei incsncesvg
     1141 tnadtpvlrn itnevlqtka kqqltekpaf lvknlkpspa vnlrtgkaef tqhpekeneg
     1201 ditifpeslq psetlkqmns mnsvgtfldv krlrqlpklf
//
LOCUS       XP_011508335             844 aa            linear   PRI 20-MAR-2023
DEFINITION  Fc receptor-like protein 5 isoform X4 [Homo sapiens].
ACCESSION   XP_011508335
VERSION     XP_011508335.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011510033.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..844
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..844
                     /product="Fc receptor-like protein 5 isoform X4"
                     /calculated_mol_wt=92057
     Region          23..100
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          40..44
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          54..58
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          71..74
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          82..87
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          93..96
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          105..185
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          119..123
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          133..136
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          149..153
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          163..168
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          178..181
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          191..>260
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          207..211
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          215..218
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          243..247
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          287..359
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          304..308
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          318..322
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          352..357
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          366..369
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          380..452
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          397..401
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          411..415
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          430..434
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          445..450
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          459..462
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          473..545
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          490..494
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          504..508
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          529..532
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          538..543
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          552..555
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          566..638
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          583..587
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          596..601
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          622..625
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          631..636
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          645..648
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          659..731
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          676..680
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          689..694
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          715..718
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          724..729
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          738..741
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          752..823
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          769..773
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          783..787
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          803..807
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          816..821
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          830..833
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..844
                     /gene="FCRL5"
                     /gene_synonym="BXMAS1; CD307; CD307e; FCRH5; IRTA2;
                     PRO820"
                     /coded_by="XM_011510033.3:154..2688"
                     /db_xref="GeneID:83416"
                     /db_xref="HGNC:HGNC:18508"
                     /db_xref="MIM:605877"
ORIGIN      
        1 mllwvillvl apvsgqfart prpiiflqpp wttvfqgerv tltckgfrfy spqktkwyhr
       61 ylgkeilret pdnilevqes geyrcqaqgs plsspvhldf ssaslilqap lsvfegdsvv
      121 lrcrakaevt lnntiykndn vlaflnkrtd fhiphaclkd ngayrctgyk esccpvssnt
      181 vkiqvqepft rpvlrassfq pisgnpvtlt cetqlslers dvplrfrffr ddqtlglgws
      241 lspnfqitam wskdsgfywc kaatmpysvi sdsprswiqv qipashpvlt lspekalnfe
      301 gtkvtlhcet qedslrtlyr fyhegvplrh ksvrcergas isfslttens gnyyctadng
      361 lgakpskavs lsvtvpvshp vlnlsspedl ifegakvtlh ceaqrgslpi lyqfhhegaa
      421 lerrsansag gvaisfslta ehsgnyycta dngfgpqrsk avslsvtvpv shpvltlssa
      481 ealtfegatv tlhcevqrgs pqilyqfyhe dmplwssstp svgrvsfsfs lteghsgnyy
      541 ctadngfgpq rsevvslfvt vpvsrpiltl rvpraqavvg dllelhceap rgsppilywf
      601 yhedvtlgss sapsggeasf nlsltaehsg nysceanngl vaqhsdtisl svivpvsrpi
      661 ltfrapraqa vvgdllelhc ealrgsspil ywfyhedvtl gkisapsggg asfnlsltte
      721 hsgiyscead ngleaqrsem vtlkvavpvs rpvltlrapg thaavgdlle lhcealrgsp
      781 lilyrffhed vtlgnrssps ggaslnlslt aehsgnysce adnglgaqrs etvtlyitgs
      841 ppqg
//
LOCUS       XP_047280787            1656 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 26 isoform X11 [Homo
            sapiens].
ACCESSION   XP_047280787
VERSION     XP_047280787.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424831.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1656
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1656
                     /product="ankyrin repeat domain-containing protein 26
                     isoform X11"
                     /calculated_mol_wt=189376
     Region          9..>220
                     /region_name="PHA02875"
                     /note="ankyrin repeat protein; Provisional"
                     /db_xref="CDD:165206"
     Site            order(79,81,85..86,89..91,93..94,98,101,110,112,114,
                     118..119,122..124,126..127,131,134,143,145,147,151..152,
                     155..157,159..160,164,167,176)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          79..110
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          84..176
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          112..143
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          145..176
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          178..209
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          <863..1630
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          1276..1579
                     /region_name="CCDC144C"
                     /note="CCDC144C protein coiled-coil region; pfam14915"
                     /db_xref="CDD:434310"
     CDS             1..1656
                     /gene="ANKRD26"
                     /gene_synonym="bA145E8.1; THC2"
                     /coded_by="XM_047424831.1:169..5139"
                     /db_xref="GeneID:22852"
                     /db_xref="HGNC:HGNC:29186"
                     /db_xref="MIM:610855"
ORIGIN      
        1 mkkifskkge splgsfarrq rssaggggep gegaysqpgy hvrdrdlgki hkaasagnva
       61 kvqqilllrk nglndrdkmn rtalhlacan ghpevvtllv drkcqlnvcd nenrtalmka
      121 vqcqeekcat illehgadpn ladvhgntal hyavynedis vatklllyda nieaknkddl
      181 tplllavsgk kqqmveflik kkanvnavdk lesshqlise ykeeripkhs sqnsnsvdes
      241 sedslsrlsg kpgvddswpt sddedlnfdt knvpkpslak lmtasqqsrk nleatygtvr
      301 tgnrtlfedr dsdsqdevvv eslpttsikv qcfshptyqs pdllpkpshk slanpglmke
      361 eptkpgiakk engidiiesa pleqtnndnl tyvdevhknn rsdmmsalgl gqeediespw
      421 dsesisenfp qkyvdplaga adgkeknign eqaedvfyip scmsgsrnfk makledtrnv
      481 gmpvahmesp erylhlkpti emkdsvpnka ggmkdvqtsk aaehdlevas eeeqeregse
      541 nnqpqdkvil ktctltekts ekqnkqinrp lsclqkmsqe pelnkecdre dvsvysglpc
      601 vqndeemwtk qgklewknnl klitnelkqs cgetcekyki taspgeeslh dnskggtnlk
      661 eipssltnni ldcdekdspv svlfqalpeq kvlslengfs fpsysgspey acqssskpyl
      721 nenklghenv nkpdtehvfn tdenfyndte nkkvrnpevv tgvmkeefdk tknmnrnttn
      781 wkldirrvpq ysdpkrpfdl icskemnhmf hikrhsisag tdaykktkpi qnlfqkplyd
      841 hcsannyksm epelenvrss pprgdrtskv slkeelqqdm qrfkneigml kvefqaleke
      901 kvqlqkevee erkkhrnnem evsanihdga tddaeddddd dgliqkrksg etdhqqfprk
      961 enkeyassgp alqmkevkst ekekrtskes vnspvfgkas lltggllqvd ddsslseide
     1021 degrptkkts neknkvknqi qsmddvddlt qssetasedc elphssyknf mllieqlgme
     1081 ckdsvsllki qdaalscerl lelkknhcel ltvkikkmed kvnvlqrels etkeiksqle
     1141 hqkvewerel cslrfslnqe eekrrnadtl yekireqlrr keeqyrkeve vkqqlelslq
     1201 tlemelrtvk snlnqvvqer ndaqrqlsre qnarmlqdgi ltnhlskqke iemaqkkmns
     1261 enshsheeek dlshknsmlq eeiamlrlei dtiknqnqek ekkcfedlki vkeknedlqk
     1321 tikqneetlt qtisqyngrl svltaenaml nsklenekqs kerleaeves yhsrlaaaih
     1381 drdqsetskr elelafqrar decsrlqdkm nfdvsnlkdn neilsqqlfk tesklnslei
     1441 efhhtrdalr ektlglervq kdlsqtqcqm kemeqkyqne qvkvnkyigk qesveerlsq
     1501 lqsenmllrq qlddahnkad nkektviniq dqfhaivqkl qaesekqsll leernkelis
     1561 ecnhlkerqy qyenekaere vvvrqlqqel adtlkkqsms easlevtsry rinledetqd
     1621 lkkklgqirn qpelgsvdsy rfptqrapaf llhrtt
//
LOCUS       XP_047281860             986 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box DNA helicase 1 isoform X8 [Homo sapiens].
ACCESSION   XP_047281860
VERSION     XP_047281860.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425904.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..986
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..986
                     /product="F-box DNA helicase 1 isoform X8"
                     /calculated_mol_wt=110777
     Region          137..184
                     /region_name="F-box_FBXO18"
                     /note="F-box domain found in F-box only protein 18
                     (FBXO18) and similar proteins; cd22095"
                     /db_xref="CDD:438867"
     Site            order(141,145,148..149,152..153,157,159..160,165..167,169)
                     /site_type="other"
                     /note="putative Skp1 binding site [polypeptide binding]"
                     /db_xref="CDD:438867"
     Region          366..875
                     /region_name="UvrD"
                     /note="Superfamily I DNA or RNA helicase [Replication,
                     recombination and repair]; COG0210"
                     /db_xref="CDD:223288"
     CDS             1..986
                     /gene="FBH1"
                     /gene_synonym="Fbx18; FBXO18; hFBH1"
                     /coded_by="XM_047425904.1:402..3362"
                     /db_xref="GeneID:84893"
                     /db_xref="HGNC:HGNC:13620"
                     /db_xref="MIM:607222"
ORIGIN      
        1 maksnsvgqd scqdsegdmi fpaesscalp qegsagpgsp gsappsrkrs wsseeesnqa
       61 tgtsrwdgvs kkaprhhlsv pctrprearq eaedstsrls aesgetdqda gdvgpdpipd
      121 syygllgtlp cqealshics lpsevlrhvf aflpvedlyw nlslvchlwr eiisdplfip
      181 wkklyhrylm neeqavskvd gilsncgiek esdlcvlnli rytattkcsp svdpervlws
      241 lrdhpllpea eacvrqhlpd lyaaaggvni walvaavvll sssvndiqrl lfclrrpsst
      301 vtmpdvtetl yciavllyam rekginisnr ihynifycly lqensctqat kvkeepsvwp
      361 gkktiqlthe qqlilnhkme plqvvkimaf agtgktstlv kyaekwsqsr flyvtfnksi
      421 akqaervfps nvicktfhsm ayghigrkyq skkklnlfkl tpfmvnsvla egkggfirak
      481 lvcktlenff asadeeltid hvpiwcknsq gqrvmveqse klngvleasr lwdnmrklge
      541 cteeahqmth dgylklwqls kpslasfdai fvdeaqdctp aimnivlsqp cgkifvgdph
      601 qqiytfrgav nalftvphth vfyltqsfrf gveiayvgat ildvckrvrk ktlvggnhqs
      661 girgdakgqv allsrtnanv fdeavrvteg efpsrihlig giksfgldri idiwillqpe
      721 eerrkqnlvi kdkfirrwvh kegfsgfkry vtaaedkele akiavvekyn iripelvqri
      781 ekchiedldf aemeshhvgq aglelptsey ilgtvhkakg lefdtvhvld dfvkvpcarh
      841 nlpqlphfrv esfsedewnl lyvavtrakk rlimtkslen iltlageyfl qaeltsnvlk
      901 tgvvrccvgq cnnaipvdtv ltmkklpity snrkenkggy lchscaeqri gplafltasp
      961 eqvramertv enivlprhea llflvf
//
LOCUS       XP_047283131             827 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptotagmin-like protein 2 isoform X23 [Homo sapiens].
ACCESSION   XP_047283131
VERSION     XP_047283131.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427175.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..827
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..827
                     /product="synaptotagmin-like protein 2 isoform X23"
                     /calculated_mol_wt=92315
     Region          5..>51
                     /region_name="PHD_SF"
                     /note="PHD finger superfamily; cl22851"
                     /db_xref="CDD:451427"
     Region          579..>651
                     /region_name="C2"
                     /note="C2 domain; cl14603"
                     /db_xref="CDD:449331"
     Region          662..818
                     /region_name="C2B_SLP_1-2-3-4"
                     /note="C2 domain second repeat present in
                     Synaptotagmin-like proteins 1-4; cd04020"
                     /db_xref="CDD:175987"
     CDS             1..827
                     /gene="SYTL2"
                     /gene_synonym="CHR11SYT; EXO4; PPP1R151; SGA72M; SLP2;
                     SLP2A"
                     /coded_by="XM_047427175.1:578..3061"
                     /db_xref="GeneID:54843"
                     /db_xref="HGNC:HGNC:15585"
                     /db_xref="MIM:612880"
ORIGIN      
        1 midlsfltee eqeaimkvlq rdaalkraee ervrhlpeki kddqqlknms gqwfyeakak
       61 rhrdkihgad iirasmrkkr pqiaelagvv eepeedaapa spsssvvnpa ssvidmsqen
      121 trkpnvspek qrknpfnssk lpeghssqqt kneqskngrt glfqtskede lseskekstv
      181 adtsiqklek skqtlpglsn gsqikapipk arkmiykstd lnkddnqsfp rqrtdslkar
      241 gaprgilkrn ssssstdset lrynhnfepk skivspglti herisekehs lednsspnsl
      301 eplkhvrfsa vkdelpqspg lihgrevgef svlesdrlkn gmedagdtee fqsdpkpsqy
      361 rkpslfhqst sspyvskset hqpmtsgsfp inglhshsev ltarpqsmen sptinepkdk
      421 sseltrlesv lprspadels hcvepepsqv pggssrdrqq gseeepspvl ktlersaark
      481 mpsksledis sdssnqakvd nqpeelvrsa eddekpdqkp vtnecvpris tvptqpdnpf
      541 shpdklkrms ksvpaflqde vsgsvmsvys gdfgnlevkg niqfaieyve slkelhvfva
      601 qckdlaaadv kkqrsdpyvk ayllpdkgkm gkkktlvvkk tlnpvyneil rtapvaleae
      661 nrgemklalq yvpepvpgkk lpttgevhiw vkecldlpll rgshlnsfvk ctilpdtsrk
      721 srqktravgk ttnpifnhtm vydgfrpedl meacveltvw dhykltnqfl gglrigfgtg
      781 ksygtevdwm dstseevalw ekmvnspntw ieatlplrml liakisk
//
LOCUS       XP_047283201             621 aa            linear   PRI 20-MAR-2023
DEFINITION  p53-induced death domain-containing protein 1 isoform X9 [Homo
            sapiens].
ACCESSION   XP_047283201
VERSION     XP_047283201.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427245.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..621
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..621
                     /product="p53-induced death domain-containing protein 1
                     isoform X9"
                     /calculated_mol_wt=69019
     Region          12..85
                     /region_name="ZU5"
                     /note="ZU5 domain; cl02517"
                     /db_xref="CDD:445810"
     Region          108..140
                     /region_name="Peptidase_S68"
                     /note="Peptidase S68; pfam10461"
                     /db_xref="CDD:431299"
     Region          152..224
                     /region_name="ZU5"
                     /note="ZU5 domain; cl02517"
                     /db_xref="CDD:445810"
     Region          499..584
                     /region_name="Death_PIDD"
                     /note="Death Domain of p53-induced protein with a death
                     domain; cd08779"
                     /db_xref="CDD:260049"
     Site            order(507..508,510,512,537..540,543)
                     /site_type="other"
                     /note="Type III interaction site [polypeptide binding]"
                     /db_xref="CDD:260049"
     Site            order(512,516,519..521,524..525,532,570,572..575,578)
                     /site_type="other"
                     /note="PIDD-RAIDD interaction site [polypeptide binding]"
                     /db_xref="CDD:260049"
     Site            order(512,516,519..520,524..525,532,570..571)
                     /site_type="other"
                     /note="Type I interaction site [polypeptide binding]"
                     /db_xref="CDD:260049"
     Site            order(572..575,578)
                     /site_type="other"
                     /note="Type II interaction site [polypeptide binding]"
                     /db_xref="CDD:260049"
     CDS             1..621
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /coded_by="XM_047427245.1:518..2383"
                     /db_xref="GeneID:55367"
                     /db_xref="HGNC:HGNC:16491"
                     /db_xref="MIM:605247"
ORIGIN      
        1 mprlfltsdl dsfpvtpqgc svtlacgvrl qfpagatatp itiryrlllp epglvplgph
       61 dallshvlel qphgvafqqd vglwllftpp qarrcrevvv rtrndnswgd letyleeeap
      121 qrlwahcqvp hfswflvvsr pvsnaclvpp egtllcssgh pgvkvifppg ateeprrvsm
      181 qvvrmagrel qallgepeaa vspllclsqs gppsflqpvt vqlplpsgit glsldrsrlh
      241 llywappaat wdditaqvvl elthlyarfq vthfswsvpp sflsppppvc talltpsspr
      301 ywlwyttknc vgglarkawe rlrlhrvnli alqrrrdpeq vllqclprnk vdatlrrlle
      361 ryrgpepsdt vemfegeeff aafergidvd adrpdcvegr icfvfyshlk nvkevyvttt
      421 ldreaqavrg qvsfyrgavp vrvpeeaeaa rqrkgadalw matlpiklpr lrgsegprrg
      481 aglslaplnl gdaetgfltq snllsvagrl gldwpavalh lgvsyrevqr irhefrddld
      541 eqirhmlfsw aerqagqpga vgllvqaleq sdrqdvaeev ravlelgrrk yqdsirrmgl
      601 apkdpalpgs sapqppepaq a
//
LOCUS       XP_011543662             667 aa            linear   PRI 20-MAR-2023
DEFINITION  T-cell differentiation antigen CD6 isoform X1 [Homo sapiens].
ACCESSION   XP_011543662
VERSION     XP_011543662.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011545360.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..667
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..667
                     /product="T-cell differentiation antigen CD6 isoform X1"
                     /calculated_mol_wt=71599
     Region          50..156
                     /region_name="SRCR"
                     /note="Scavenger receptor cysteine-rich domain; pfam00530"
                     /db_xref="CDD:425734"
     Region          161..260
                     /region_name="SR"
                     /note="Scavenger receptor Cys-rich; smart00202"
                     /db_xref="CDD:214555"
     Region          270..361
                     /region_name="SRCR"
                     /note="Scavenger receptor cysteine-rich domain; pfam00530"
                     /db_xref="CDD:425734"
     CDS             1..667
                     /gene="CD6"
                     /gene_synonym="TP120"
                     /coded_by="XM_011545360.3:187..2190"
                     /db_xref="GeneID:923"
                     /db_xref="HGNC:HGNC:1691"
                     /db_xref="MIM:186720"
ORIGIN      
        1 mwlffgitgl ltaalsghps pappdqlnts saeselwepg erlpvrltng ssscsgtvev
       61 rleaswepac galwdsraae avcralgcgg aeaasqlapp tpelppppaa gntsvaanat
      121 lagapallcs gaewrlcevv ehacrsdgrr arvtcaenra lrlvdgggac agrvemlehg
      181 ewgsvcddtw dledahvvcr qlgcgwavqa lpglhftpgr gpihrdqvnc sgaeaylwdc
      241 pglpgqhycg hkedagavcs ehqswrltgg adrcegqvev hfrgvwntvc dsewypseak
      301 vlcqslgcgt averpkglph slsgrmyysc ngeeltlsnc swrfnnsnlc sqslaarvlc
      361 sasrslhnls tpevpasvqt vtiessvtvk ienkesrelm llipsivlgi lllgslifia
      421 fillrikgky alpvmvnhqh lpttipagsn syqpvpitip kevfmlpiqv qapppedsds
      481 gsdsdyehyd fsaqppvalt tfynsqrhrv tdeevqqsrf qmppleegle elhashipta
      541 npghcitdpp slgpqyhprs nsesstssge dycnspkskl ppwnpqvfss erssfleqpp
      601 nlelagtqpa fsgppaddss stssgewyqn fqpppqppse eqfgcpgsps pqpdstdndd
      661 yddisaa
//
LOCUS       XP_047284118            1902 aa            linear   PRI 20-MAR-2023
DEFINITION  bromodomain adjacent to zinc finger domain protein 2A isoform X14
            [Homo sapiens].
ACCESSION   XP_047284118
VERSION     XP_047284118.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428162.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1902
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1902
                     /product="bromodomain adjacent to zinc finger domain
                     protein 2A isoform X14"
                     /calculated_mol_wt=210679
     Region          <390..>522
                     /region_name="PRK10856"
                     /note="cytoskeleton protein RodZ"
                     /db_xref="CDD:236776"
     Region          549..621
                     /region_name="HAT_MBD"
                     /note="Methyl-CpG binding domains (MBD) present in
                     putative chromatin remodelling factor such as BAZ2A; BAZ2A
                     contains a MBD, DDT, PHD-type zinc finger and Bromo domain
                     suggesting that BAZ2A might be associated with histone
                     acetyltransferase (HAT) activity. The...; cd01397"
                     /db_xref="CDD:238691"
     Site            order(561,563,565,572,574,583,586,590)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238691"
     Region          846..911
                     /region_name="DDT"
                     /note="domain in different transcription and chromosome
                     remodeling factors; smart00571"
                     /db_xref="CDD:214726"
     Region          1109..>1164
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          <1325..1428
                     /region_name="PHA03378"
                     /note="EBNA-3B; Provisional"
                     /db_xref="CDD:223065"
     Region          <1437..1471
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          1676..1722
                     /region_name="PHD_BAZ2A"
                     /note="PHD finger found in bromodomain adjacent to zinc
                     finger domain protein 2A (BAZ2A); cd15629"
                     /db_xref="CDD:277099"
     Site            order(1683,1686..1687,1689..1693,1711..1714)
                     /site_type="other"
                     /note="H3 histone binding site [polypeptide binding]"
                     /db_xref="CDD:277099"
     Region          1795..1891
                     /region_name="Bromo_BAZ2A_B_like"
                     /note="Bromodomain, BAZ2A/BAZ2B_like subfamily. Bromo
                     adjacent to zinc finger 2A (BAZ2A) and 2B (BAZ2B) were
                     identified as a novel human bromodomain gene by cDNA
                     library screening. BAZ2A is also known as Tip5
                     (Transcription termination factor I-interacting...;
                     cd05503"
                     /db_xref="CDD:99935"
     Site            order(1819,1824,1827,1866,1870,1876)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99935"
     CDS             1..1902
                     /gene="BAZ2A"
                     /gene_synonym="TIP5; WALp3"
                     /coded_by="XM_047428162.1:54..5762"
                     /db_xref="GeneID:11176"
                     /db_xref="HGNC:HGNC:962"
                     /db_xref="MIM:605682"
ORIGIN      
        1 meandhfnft glppapaasg lkpspssgeg lytngspmnf pqqgkslngd vnvnglstvs
       61 htttsgilns aphssstshl hhpsvaydcl wnysqypsan pgsnlkdppl lsqfsggqyp
      121 lngilggsrq psspshntnl ragsqefwan gtqspmglnf dsqelydsfp dqnfevmpng
      181 ppsfftspqt spmlgssiqt fapsqevgsg ihpdeaaeke mtsvvaengt glvgslelee
      241 eqpelkmcgy ngsvpsvesl hqevsvlvpd ptvsclddps hlpdqledtp ilsedslepf
      301 nslapepvsg glygiddtel mgaedklple dspvisaldc pslnnatafs lladdsqtst
      361 sifasptspp vlgesvlqdn sfdlnngsda eqeemetqss dfppsltqpa pdqsstiqlh
      421 patspavspt tspavslvvs paaspeispe vcpaastvvs pavfsvvspa ssavlpavsl
      481 evpltasvts pkaspvtspa aafptaspan kdvssflett adveeitgeg ltasgsgdvm
      541 rrriatpeev rlplqhgwrr evrikkgshr wqgetwyygp cgkrmkqfpe vikylsrnvv
      601 hsvrrehfsf sprmpvgdff eerdtpeglq wvqlsaeeip sriqaitgkr grprntekak
      661 tkevpkvkrg rgrppkvkit ellnktdnrp lkkleaqetl needkakiak skkkmrqkvq
      721 rgecqttiqg qarnkrkqet kslkqkeakk kskaekekgk tkqeklkekv krekkekvkm
      781 kekeevtkak packadktla tqrrleerqr qqmileemkk ptedmcltdh qplpdfsrvp
      841 gltlpsgafs dcltiveflh sfgkvlgfdp akdvpslgvl qegllcqgds lgevqdllvr
      901 llkaalhdpg fpsycqslki lgekvseipl trdnvseilr cflmaygvep alcdrlrtqp
      961 fqaqppqqka avlaflvhel ngstliinei dktlesmssy rknkwivegr lrrlktvlak
     1021 rtgrseveme gpeeclgrrr ssrimeetsg meeeeeeesi aavpgrrgrr dgevdatass
     1081 ipelerqiek lskrqlffrk kllhssqmlr avslgqdryr rrywvlpyla gifvegtegn
     1141 lvpeevikke tdslkvaaha slnpalfsmk melagsntta ssparargrp rktkpgsmqp
     1201 rhlkspvrgq dseqpqaqlq peaqlhapaq pqpqlqlqlq shkgfleqeg splslgqsqh
     1261 dlsqsaflsw lsqtqshssl lsssvltpds spgkldpaps qppeepepde aesspdpqal
     1321 wfnisaqmpc naaptpppav sedqptpspq qlasskpmnr psaanpcspv qfsstplagl
     1381 apkrragdpg empqsptglg qpkrrgrpps kffkqmeqry ltqltaqpvp pemcsgwwwi
     1441 rdpemldaml kalhprgire kalhkhlnkh rdflqevclr psadpifepr qlpafqegim
     1501 swspkektye tdlavlqwve eleqrvimsd lqirgwtcps pdstredlay cehlsdsqed
     1561 itwrgrgreg lapqrkttnp ldlavmrlaa leqnverryl replwpthev vlekallstp
     1621 ngapegttte isyeitprir vwrqtlercr saaqvclclg qlersiawek svnkvtclvc
     1681 rkgdndefll lcdgcdrgch iychrpkmea vpegdwfctv claqvegeft qkpgfpkrgq
     1741 krksgyslnf segdgrrrrv llrgrespaa gpryseegls pskrrrlsmr nhhsdltfce
     1801 iilmemeshd aawpflepvn prlvsgyrri iknpmdfstm rerllrggyt sseefaadal
     1861 lvfdncqtfn eddsevgkag himrrffesr weefyqgkqa nl
//
LOCUS       XP_047284525            1110 aa            linear   PRI 20-MAR-2023
DEFINITION  ELKS/Rab6-interacting/CAST family member 1 isoform X9 [Homo
            sapiens].
ACCESSION   XP_047284525
VERSION     XP_047284525.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428569.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1110
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1110
                     /product="ELKS/Rab6-interacting/CAST family member 1
                     isoform X9"
                     /calculated_mol_wt=127481
     Region          154..976
                     /region_name="Cast"
                     /note="RIM-binding protein of the cytomatrix active zone;
                     pfam10174"
                     /db_xref="CDD:431111"
     Region          1062..1102
                     /region_name="RBD-FIP"
                     /note="FIP domain; pfam09457"
                     /db_xref="CDD:401421"
     CDS             1..1110
                     /gene="ERC1"
                     /gene_synonym="Cast2; ELKS; ERC-1; RAB6IP2"
                     /coded_by="XM_047428569.1:227..3559"
                     /db_xref="GeneID:23085"
                     /db_xref="HGNC:HGNC:17072"
                     /db_xref="MIM:607127"
ORIGIN      
        1 mygsarsvgk vepssqspgr sprlprsprl ghrrtnstgg ssgssvgggs gktlsmeniq
       61 slnaayatsg pmylsdhenv gsetpkstmt lgrsggrlpy gvrmtamgss pniassgvas
      121 dtiafgehhl ppvsmastvp hslrqardnt imdlqtqlke vlrendllrk dvevkeskls
      181 ssmnsiktfw spelkkeral rkdeaskiti wkeqyrvvqe enqhmqmtiq alqdelriqr
      241 dlnqlfqqds ssrtgepcva elteenfqrl haeherqake lfllrktlee melrietqkq
      301 tlnardesik kllemlqskg lsakateedh ertrrlaeae mhvhhlesll eqkekensml
      361 reemhrrfen apdsaktkal qtviemkdsk issmerglrd leeeiqmlks ngalsteere
      421 eemkqmevyr shskfmknki gqvkqelsrk dtellalqtk letltnqfsd skqhievlke
      481 sltakeqraa ilqtevdalr lrleeketml nkktkqiqdm aeekgtqage ihdlkdmldv
      541 kerkvnvlqk kienlqeqlr dkekqmsslk ervkslqadt tntdtalttl eealaekert
      601 ierlkeqrdr derekqeeid nykkdlkdlk ekvsllqgdl sekeaslldl kehasslass
      661 glkkdsrlkt leialeqkke eclkmesqlk kaheaalear aspemsdriq hlereitryk
      721 desskaqaev drlleilkev enekndkdkk iaelesltsr qvkdqnkkva nlkhkeqvek
      781 kksaqmleea rrrednlnds sqqlqdslrk kddrieelee alresvqita eremvlaqee
      841 sartnaekql lreilhetsy lnfkwfkvee llmamekvkq elesmkakls stqqslaeke
      901 thltnlraer rkhleevlem kqeallaais ekdanialle lssskkktqe evaalkrekd
      961 rlvqqlkqqt qnrmklmadn yeddhfkssh snqtnhkpsp dqiiqpllel dqnrsklkly
     1021 ighlttlchd rdplilrglt ppasynlddd qaawenelqk mtrgqlqdel ekgerdnael
     1081 qefanailqq iadhcpdile qvvnaleess
//
LOCUS       XP_047284586            1070 aa            linear   PRI 20-MAR-2023
DEFINITION  RIMS-binding protein 2 isoform X7 [Homo sapiens].
ACCESSION   XP_047284586
VERSION     XP_047284586.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428630.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1070
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1070
                     /product="RIMS-binding protein 2 isoform X7"
                     /calculated_mol_wt=117160
     Region          24..>85
                     /region_name="DUF4200"
                     /note="Domain of unknown function (DUF4200); pfam13863"
                     /db_xref="CDD:433535"
     Region          188..248
                     /region_name="SH3_RIM-BP_1"
                     /note="First Src homology 3 domain of Rab3-interacting
                     molecules (RIMs) binding proteins; cd12014"
                     /db_xref="CDD:212947"
     Site            order(193,195,198,208,227..228,242,244..245)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212947"
     Region          317..394
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Site            order(393..394,396..397)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          410..473
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          504..590
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(504,573,588)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          816..877
                     /region_name="SH3_RIM-BP_2"
                     /note="Second Src homology 3 domain of Rab3-interacting
                     molecules (RIMs) binding proteins; cd12012"
                     /db_xref="CDD:212945"
     Site            order(821,823,826,838,857..858,871,873..874)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212945"
     Region          920..980
                     /region_name="SH3_RIM-BP_3"
                     /note="Third Src homology 3 domain of Rab3-interacting
                     molecules (RIMs) binding proteins; cd12013"
                     /db_xref="CDD:212946"
     Site            order(925,927,930,941,960..961,974,976..977)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212946"
     CDS             1..1070
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /coded_by="XM_047428630.1:430..3642"
                     /db_xref="GeneID:23504"
                     /db_xref="HGNC:HGNC:30339"
                     /db_xref="MIM:611602"
ORIGIN      
        1 mreaaerrqq lqlehdqala vlsakqqeid llqkaqveak kehegavrll eskvreleek
       61 crtqseqfnl lsrdlekfrq hagkidllgg savapldist apskpfpqfm nglatslgkg
      121 qesaiggssa igeyirplpq pgdrpeplsa kptflsrsgs arcrsesdme nernsntskq
      181 rysgkvhlcv arysynpfdg pnenpeaelp ltagkylyvy gdmdedgfye gelldgqrgl
      241 vpsnfvdfvq dnesrlastl gneqdqnfin hsgiglegeh ildlhspthi dagitdnsag
      301 tldvniddig edivpyprki tlikqlaksv ivgweppavp pgwgtvssyn vlvdketrmn
      361 ltlgsrtkal ieklnmaact yrisvqcvts rgssdelqct llvgkdvvva pshlrvdnit
      421 qisaqlswlp tnsnyshvif lneeefdivk aarykyqffn lrpnmaykvk vlakphqmpw
      481 qlpleqrekk eafvefstlp agppappqdv tvqagvtpat irvswrppvl tptglsngan
      541 vtgygvyakg qrvaevifpt adstavelvr lrsleakgvt vrtlsaqges vdsavaavpp
      601 ellvpptphp rpapqskpla ssgvpetkde hlgpharmde aweqsrapgp vhghmleppv
      661 gpgrrspsps rilpqpqgtp vsttvakama reaaqrvaes srlekrsvfl erssagqyaa
      721 sdeedaydsp dfkrrgasvd dflkgselgk qilgnpasag rvdhmgrrfp rgsagpqrsr
      781 pvtvpsiddy grdrlspdfy eesetdpgae elparifval fdydpltmsp npdaaeeelp
      841 fkegqiikvy gdkdadgfyr getcarlgli pcnmvseiqa ddeemmdqll rqgflplntp
      901 vekiersrrs grrhsvstrr mvalydydpr esspnvdvea eltfctgdii tvfgeidedg
      961 fyygelngqk glvpsnflee vpddvevyls dapshysqdt pmrskakrvp pegsgtarra
     1021 psptvhlhsg sptssmgsgs pgrgremssk kkkgllskgk kllkklgavk
//
LOCUS       XP_016874932             471 aa            linear   PRI 20-MAR-2023
DEFINITION  periphilin-1 isoform X9 [Homo sapiens].
ACCESSION   XP_016874932
VERSION     XP_016874932.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019443.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..471
                     /product="periphilin-1 isoform X9"
                     /calculated_mol_wt=54071
     Region          273..>329
                     /region_name="periphilin-like"
                     /note="Vertebrate periphilin-1 and similar proteins;
                     cd22896"
                     /db_xref="CDD:439377"
     Region          <422..>457
                     /region_name="HERV-K_REC"
                     /note="Rec (regulator of expression encoded by corf) of
                     HERV-K-113; pfam15695"
                     /db_xref="CDD:292323"
     CDS             1..471
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /coded_by="XM_017019443.1:106..1521"
                     /db_xref="GeneID:51535"
                     /db_xref="HGNC:HGNC:19369"
                     /db_xref="MIM:608150"
ORIGIN      
        1 mayrrdemws egryeyerip rerapprshp sdgynrlvni vpkkpplldr pgegsynryy
       61 shvdyrdyde grsfshdrrs gpphrgdesg yrwtrddhsa srqpeyrdmr dgfrrksfys
      121 shyarerspy krdntffres pvgrkdsphs rsgssvssrs yspersksys fhqsqhrnke
      181 rpvqslktsr dtspssgsav ssskvldkps rltekelaea askwaaekle ksdesnlpei
      241 seyeagstap lftdqpeepe sntthgielf edsqlttrsk aiasktkeie qvyrqdcetf
      301 gmvvkmliek dpsleksiqf alrqnlheie sagqtwqqvp pvrntemdhd gtpenegeet
      361 aqshdasnht ivglgpnqvp emkettlqap qppqapqplq prkkrvrrtt qlrrttgapd
      421 itwgmlkktt qeaerillrt qtpftpenlf lamlsvvhcn srkdvkpenk q
//
LOCUS       XP_011519165             307 aa            linear   PRI 20-MAR-2023
DEFINITION  germ cell-specific gene 1 protein isoform X5 [Homo sapiens].
ACCESSION   XP_011519165
VERSION     XP_011519165.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011520863.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..307
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..307
                     /product="germ cell-specific gene 1 protein isoform X5"
                     /calculated_mol_wt=33693
     Region          24..137
                     /region_name="GSG-1"
                     /note="GSG1-like protein; pfam07803"
                     /db_xref="CDD:429667"
     CDS             1..307
                     /gene="GSG1"
                     /coded_by="XM_011520863.3:156..1079"
                     /db_xref="GeneID:83445"
                     /db_xref="HGNC:HGNC:19716"
ORIGIN      
        1 msdpsqltqn vcltqemels kafsgqrtll sailsmlsls fsttsllsny wfvgtqkvpk
       61 plcekglaak cfdmpvsldg dtntstqevv qynwetgddr fsfrsfrsgm wlsceetvee
      121 pgercrsfie ltppakrgek gllefatlqg pchptlrfgg krlmekaslp spplglcgkn
      181 pmvipgnadh lhrtsihqlp patnrlathw epclwaqter lcccflcpvr alpscflgrs
      241 pgdggphdvf tslpsdcqlg srrlettcle lwlgllhgla llhllhgvgc hhlqhvhqdg
      301 agvqvqa
//
LOCUS       XP_047287290            1577 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 6 isoform X4 [Homo sapiens].
ACCESSION   XP_047287290
VERSION     XP_047287290.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431334.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1577
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1577
                     /product="tetratricopeptide repeat protein 6 isoform X4"
                     /calculated_mol_wt=182376
     Region          600..628
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          607..1499
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     Region          633..663
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          669..696
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          701..730
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(736,739..740,743..744,746,770,773..774,777..778,
                     780..781,804,807..808,811,814)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          736..763
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          768..798
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          840..866
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          874..901
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(876..877,880..881,884,908,911..912,915..916,
                     918..919,942,945..946,949..950,953)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          906..936
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          975..1000
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1014..1037
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1053..1081
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1086..1115
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1130..1156
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(1132..1133,1136..1137,1139,1163,1166..1167,
                     1170..1171,1173..1174,1197,1200..1201,1204..1205,1208)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          1161..1191
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1196..1219
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1235..1261
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(1237..1238,1241..1242,1244,1268,1271..1272,
                     1275..1276,1278..1279,1302,1305..1306,1309..1310,1313)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          1266..1296
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1301..1331
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1338..1366
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1371..1401
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1405..1433
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1441..1467
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(1443..1444,1447..1448,1450,1474,1477..1478,
                     1481..1482,1484..1485,1508,1511..1512,1515..1516,1519)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          1472..1502
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1489..>1576
                     /region_name="PilF"
                     /note="Tfp pilus assembly protein PilF [Cell motility,
                     Extracellular structures]; COG3063"
                     /db_xref="CDD:225605"
     Region          1507..1535
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1541..1569
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..1577
                     /gene="TTC6"
                     /gene_synonym="C14orf25; NCRNA00291"
                     /coded_by="XM_047431334.1:67..4800"
                     /db_xref="GeneID:319089"
                     /db_xref="HGNC:HGNC:19739"
ORIGIN      
        1 mgkmylktsp mqaetpeiqa eykfqmgaee sqmsvhkels etmssilqie qediewgpse
       61 aesivfkpqe isqvqpaeel skpledgqpt sdskeakwvs ltakspeflq iegkeikrmr
      121 krkslrprks skplcdkklh kkipqdysmp hlhdlcttip aqelpvdlrl asrvyhtanr
      181 kghdtllgkf gtsflddrft deeqtdrily gipvmddnqe yvhipptpqg ippelaqgtr
      241 erahkphlev lgeemyaype ftklfwntaa pkfsvpesvm ketlypkyes vqasrlltdk
      301 lsykssvitl hqhsrtnfwc flprksasfe siqkwfsaqp tqlrrvkssv dlrkekiiap
      361 leikndmqss ikevmfqkak elkrqlqltk qnkteepnyv kesiddifdn mcekhslrnl
      421 sltlieaskk agisyivypk kkkmrwkkrl kqqklifvhe elskppksle rsashgilpg
      481 qkkylfkvpl yerqircpsl plylnfekfv qakggipeni dprtwaldrl ieykdasipv
      541 kekddkisvp edppervkep pklklndyve sdlpqeviky yesevkilte eindktkypa
      601 faycrrgaiy rklgklqsam ndlqrville plflnaywhr hliylfqdki nealddlnyi
      661 hkynknntea ylskaeiyrg kkditlailn ytqaikstpt dadiyfrrge myeitnkvla
      721 iddfskcify dpkrtdallk rglfycenen wfaaiedfta llnidhqnsq artyrgiayv
      781 kwkfykeatq dfsaaihldp nnwlalyyrg clfrksnpfr alqdysvsal indgyenlgc
      841 flhrgivyah lklwllaicd fetvislert itlayvnigl ihllhldnyt eaiwqfseai
      901 ridplciqsy lcraetyfkl hklkkavnel sraihlqpdg iqlyirrgqy llmmkyydla
      961 kftiyqiaem dkglselspm qqaliysfce nhdkaievld giswnraemt mcallakvqm
     1021 kakrtkeave vlkkaldais hsdkgpdata isadclynlg lcymeegnlq mafdsftkav
     1081 kanpdfaesf yqrglckvkl hkdssildfn raitlnpkhy qemhtgglga ylsrvafygl
     1141 kgryskailn cnkaikiype svraylyrgv lkyynktykl aitdlttais mdknsytafy
     1201 nralcytkir elqmaltdyg ivllldatet vklntflnrg liyvelgqyg faledfkqaa
     1261 lisrtngslc hatamchhri nefeeavnff twalkinpcf ldayvgrgns ymeyghdeat
     1321 kqaqkdflka lhinpayika risfgynlqa qgkfqkawnh ftiaidtdpk nylayegrav
     1381 vclqmgnnfa amqdinaamk isttaefltn rgvihefmgh kqnamkdyqd aitlnpkysl
     1441 ayfnagniyf hhrqfsqasd yfskalkfdp eneyvlmnra itntilkkye eakedfanvi
     1501 escpfwaavy fnrahfyycl kqyelaeedl nkalslkpnd alvynfrakv rgkiglieea
     1561 madynqaldl edyasvi
//
LOCUS       XP_024305445             447 aa            linear   PRI 20-MAR-2023
DEFINITION  lysosomal cobalamin transporter ABCD4 isoform X7 [Homo sapiens].
ACCESSION   XP_024305445
VERSION     XP_024305445.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024449677.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..447
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..447
                     /product="lysosomal cobalamin transporter ABCD4 isoform
                     X7"
                     /calculated_mol_wt=50111
     Region          <31..441
                     /region_name="YddA"
                     /note="ABC-type uncharacterized transport system, permease
                     and ATPase components [General function prediction only];
                     COG4178"
                     /db_xref="CDD:226646"
     CDS             1..447
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /coded_by="XM_024449677.2:232..1575"
                     /db_xref="GeneID:5826"
                     /db_xref="HGNC:HGNC:68"
                     /db_xref="MIM:603214"
ORIGIN      
        1 maskliispf tlvyytyqcf qstgwlgpvs ifgyfilgtv vnktlmgpiv mklvhqekle
       61 gdfrfkhmqi rvnaepaafy raghvehmrt drrlqrllqt qrelmskelw lyigintfdy
      121 lgsilsyvvi aipifsgvyg dlspaelstl vsknafvciy liscftqlid lsttlsdvag
      181 ythrigqlre tlldmslksq dceilgesew gldtppgwpa aepadtafll ervsisapss
      241 dkplikdlsl kisegqslli tgntgtgkts llrvlgglwt strgsvqmlt dfgphgvlfl
      301 pqkpfftdgt lreqviyplk evypdsgsad derilrflel aglsnlvart egldqqvdwn
      361 wydvlspgem qrlsfarlfy lqpkyavlde atsalteeve selyrigqql gmtfisvghr
      421 qslekfhslv lklcgggrwe lmrikve
//
LOCUS       XP_011535478             528 aa            linear   PRI 20-MAR-2023
DEFINITION  basal body-orientation factor 1 isoform X7 [Homo sapiens].
ACCESSION   XP_011535478
VERSION     XP_011535478.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011537176.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..528
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..528
                     /product="basal body-orientation factor 1 isoform X7"
                     /calculated_mol_wt=61367
     Region          4..191
                     /region_name="DUF4515"
                     /note="Domain of unknown function (DUF4515); pfam14988"
                     /db_xref="CDD:405647"
     CDS             1..528
                     /gene="BBOF1"
                     /gene_synonym="C14orf45; CCDC176; FBB10"
                     /coded_by="XM_011537176.3:401..1987"
                     /db_xref="GeneID:80127"
                     /db_xref="HGNC:HGNC:19855"
ORIGIN      
        1 mekdimsvls ylkkqdqekd nmieklkqql netkekaqee kdkleqkytr qinelegqfh
       61 qkakeigmih telkavrqfq krkiqverel ddlkenlrnt erihqetlrr lesrffeekh
      121 rleqeaekki imlaerahhe aivqlndagr nvfkendylq kalayhlket dalqknsqkl
      181 qeshtlllhq kswslshlgi hlavsnspdi sgittqgfil spkggleein dllvkekimq
      241 lvqqrsqiqt lqkkvvnlet alsymtkefe sevlklqqha mienqagqve idklqhllqm
      301 kdremnrvkk laknildert everffldal hqvkqqilis rkhykqiaqa afnlkmraac
      361 tgrteypkir tfdgrehstn svnqdlleae kwthiegnvd igdltweqke kvlrllfakm
      421 ngcpsrkynq ssrppvpdyv vsdsgetkef gdesklqdki fitqqiaisd ssgevvlpti
      481 pkepqesdtv rslylikqci llspfpmsll aksrlfsllv erlqgsve
//
LOCUS       XP_006720822             563 aa            linear   PRI 20-MAR-2023
DEFINITION  protein regulator of cytokinesis 1 isoform X10 [Homo sapiens].
ACCESSION   XP_006720822
VERSION     XP_006720822.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006720759.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..563
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..563
                     /product="protein regulator of cytokinesis 1 isoform X10"
                     /calculated_mol_wt=65550
     Region          16..477
                     /region_name="MAP65_ASE1"
                     /note="Microtubule associated protein (MAP65/ASE1 family);
                     pfam03999"
                     /db_xref="CDD:427641"
     CDS             1..563
                     /gene="PRC1"
                     /gene_synonym="ASE1"
                     /coded_by="XM_006720759.3:119..1810"
                     /db_xref="GeneID:9055"
                     /db_xref="HGNC:HGNC:9341"
                     /db_xref="MIM:603484"
ORIGIN      
        1 mrrsevlaee sivclqkaln hlreiwelig ipedqrlqrt evvkkhikel ldmmiaeees
       61 lkerliksis vcqkelntlc selhvepfqe egettilqle kdlrtqvelm rkqkkerkqe
      121 lkllqeqdqe lceilcmphy didsasvpsl eelnqfrqhv ttlretkasr reefvsikrq
      181 iilcmealdh tpdtsferdv vcededafcl sleniatlqk llrqlemqks qneavceglr
      241 tqirelwdrl qipeeereav atimsgskak vrkalqlevd rleelkmqnm kkvieairve
      301 lvqywdqcfy sqeqrqafap fcaedytesl lqlhdaeivr lknyyevhke lfegvqkwee
      361 twrlflefer kasdpnrftn rggnllkeek qraklqkmlp kleeelkari elweqehska
      421 fmvngqkfme yvaeqwemhr lekerakqer qlknkkqtet emlygsaprt pskrrglapn
      481 tpgkarklnt ttmsnatans sirpifggtv yhspvsrlpp sgskpvaast csgkktprtg
      541 rhgankenle lngsilsegs vpl
//
LOCUS       XP_047289520             880 aa            linear   PRI 20-MAR-2023
DEFINITION  adenylate cyclase type 7 isoform X4 [Homo sapiens].
ACCESSION   XP_047289520
VERSION     XP_047289520.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433564.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..880
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..880
                     /product="adenylate cyclase type 7 isoform X4"
                     /calculated_mol_wt=98490
     Region          <4..49
                     /region_name="AC_N"
                     /note="Adenylyl cyclase N-terminal extracellular and
                     transmembrane region; pfam16214"
                     /db_xref="CDD:318454"
     Region          70..253
                     /region_name="Guanylate_cyc"
                     /note="Adenylate and Guanylate cyclase catalytic domain;
                     pfam00211"
                     /db_xref="CDD:425528"
     Site            order(82,84..89,124,126..128,131,193..195,199..200,
                     203..204,243)
                     /site_type="active"
                     /note="nucleotidyl binding site [active]"
                     /db_xref="CDD:143636"
     Site            order(84,128)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:143636"
     Site            order(89,101,104..105,108,112,124..125,181,184,194..197,
                     200,243)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143636"
     Region          285..393
                     /region_name="DUF1053"
                     /note="Domain of Unknown Function (DUF1053); pfam06327"
                     /db_xref="CDD:428889"
     Region          671..867
                     /region_name="Guanylate_cyc"
                     /note="Adenylate and Guanylate cyclase catalytic domain;
                     pfam00211"
                     /db_xref="CDD:425528"
     Site            order(682,684..689,731,733..735,738,810..812,816..817,
                     820..821,857)
                     /site_type="active"
                     /note="nucleotidyl binding site [active]"
                     /db_xref="CDD:143636"
     Site            order(684,735)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:143636"
     Site            order(689,705,708..709,712,716,731..732,798,801,811..814,
                     817,857)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143636"
     CDS             1..880
                     /gene="ADCY7"
                     /gene_synonym="AC7"
                     /coded_by="XM_047433564.1:132..2774"
                     /db_xref="GeneID:113"
                     /db_xref="HGNC:HGNC:238"
                     /db_xref="MIM:600385"
ORIGIN      
        1 mqdasrdlft ytvkciqirr klriekrqqe nlllsvlpah ismgmklaii erlkehgdrr
       61 cmpdnnfhsl yvkrhqnvsi lyadivgftq lasdcspkel vvvlnelfgk fdqiakanec
      121 mrikilgdcy ycvsglpvsl ptharncvkm gldmcqaikq vreatgvdin mrvgihsgnv
      181 lcgviglrkw qydvwshdvs lanrmeaagv pgrvhiteat lkhldkayev edghgqqrdp
      241 ylkemnirty lvidprsqqp pppsqhlprp kgdaalkmra svrmtryles wgaarpfahl
      301 nhresvssge thvpngrrpk svpqrhrrtp drsmspkgrs eddsyddeml saieglsstr
      361 pccsksddfy tfgsiflekg fereyrlapi prarhdfaca slifvcillv hvllmprtaa
      421 lgvsfglvac vlglvlglcf atkfsrccpa rgtlctiser vetqpllrlt lavltigsll
      481 tvaiinlplm pfqvpelpvg netgllaass ktralceplp yytcscvlgf iacsvflrms
      541 lepkvvlltv alvaylvlfn lspcwqwdcc gqglgnltkp ngttsgtpsc swkdlktmtn
      601 fylvlfyitl ltlsrqidyy crldclwkkk fkkeheefet menvnrllle nvlpahvaah
      661 figdklnedw yhqsydcvcv mfasvpdfkv fytecdvnke gleclrllne iiadfdelll
      721 kpkfsgveki ktigstymaa aglsvasghe nqelerqhah igvmvefsia lmskldginr
      781 hsfnsfrlrv ginhgpviag vigarkpqyd iwgntvnvas rmestgelgk iqvteetcti
      841 lqglgyscec rglinvkgkg elrtyfvctd takfqglgln
//
LOCUS       XP_047289843             262 aa            linear   PRI 20-MAR-2023
DEFINITION  phospholipase A2 group XV isoform X3 [Homo sapiens].
ACCESSION   XP_047289843
VERSION     XP_047289843.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433887.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..262
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..262
                     /product="phospholipase A2 group XV isoform X3"
                     /calculated_mol_wt=29468
     Region          <61..246
                     /region_name="Abhydrolase"
                     /note="alpha/beta hydrolases; cl21494"
                     /db_xref="CDD:451272"
     CDS             1..262
                     /gene="PLA2G15"
                     /gene_synonym="ACS; GXVPLA2; LLPL; LPLA2; LYPLA3"
                     /coded_by="XM_047433887.1:133..921"
                     /db_xref="GeneID:23659"
                     /db_xref="HGNC:HGNC:17163"
                     /db_xref="MIM:609362"
ORIGIN      
        1 mvwmyvslal grpshwsswt pakaawvpis tpwwralwag athgvrmseg lpmtgaepqr
       61 qpqawkdkyi rafvslgapw ggvaktlrvl asgdnnripv igplkireqq rsavstswll
      121 pynytwspek vfvqtptiny tlrdyrkffq digfedgwlm rqdteglvea tmppgvqlhc
      181 lygtgvptpd sfyyesfpdr dpkicfgdgd gtvnlksalq cqawqsrqeh qvllqelpgs
      241 ehiemlanat tlaylkrvll gp
//
LOCUS       XP_011522930            1104 aa            linear   PRI 20-MAR-2023
DEFINITION  KAT8 regulatory NSL complex subunit 1 isoform X2 [Homo sapiens].
ACCESSION   XP_011522930
VERSION     XP_011522930.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011524628.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1104
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1104
                     /product="KAT8 regulatory NSL complex subunit 1 isoform
                     X2"
                     /calculated_mol_wt=120707
     Region          884..1001
                     /region_name="PEHE"
                     /note="PEHE domain; pfam15275"
                     /db_xref="CDD:434589"
     CDS             1..1104
                     /gene="KANSL1"
                     /gene_synonym="CENP-36; hMSL1v1; KDVS; KIAA1267; MSL1v1;
                     NSL1"
                     /coded_by="XM_011524628.4:575..3889"
                     /db_xref="GeneID:284058"
                     /db_xref="HGNC:HGNC:24565"
                     /db_xref="MIM:612452"
ORIGIN      
        1 maamapaltd aaaeahhirf klappsstls pgsaenngna niliaangtk rkaiaaedps
       61 ldfrnnptke dlgklqplva sylcsdvtsv pskeslklqg vfskqtvlks hpllsqsyel
      121 raellgrqpv lefslenlrt mntsgqtalp qapvnglakk ltkssthsdh dnstslnggk
      181 raltssalhg gemggsesgd lkggmtnctl phrsldveht tlysnnstan kssvnsmeqp
      241 alqgssrlsp gtdsssnlgg vklegkkspl ssilfsalds dtritallrr qadiesrarr
      301 lqkrlqvvqa kqverhiqhq lggflektls klpnleslrp rsqlmltrka eaalrkaase
      361 tttseglsnf lksnsiseel erftasgian lrcseqafds dvtdsssgge sdieeeeltr
      421 adpeqrhvpl rrrsewkwaa draaivsrwn wlqahvsdle yrirqqtdiy kqirankgli
      481 vlgevpppeh ttdlflplss evktdhgtdk liesvsqple nhgapiighi seslstkscg
      541 alrpvngvin tlqpvladhi pgdssdaeeq lhkkqrlnlv ssssdgtcva artrpvlsck
      601 krrlvrpnsi vplskkvhrn stirpgcdvn pscalcgsgs intmppeihy eapllerlsq
      661 ldscvhpvla fpddvptslh fqsmlksqwq nkpfdkikpp kklslkhrap mpgslpdsar
      721 kdrhklvssf lttaklshhq trpdrthrqh lddvgavpmv ervtapkaer llnppppvhd
      781 pnhskmrlrd hssersevlk hhtdmssssy laathhpphs plvrqlstss dspapassss
      841 qvtastsqpv rrrrgessfd innivipmsv aattrveklq ykeiltpswr evdlqslkgs
      901 pdeeneeied lsdaafaalh akceemerar wlwttsvppq rrgsrsyrss dgrttpqlgs
      961 anpstpqpas pdvssshsls eyshgqsprs pispelhsap ltpvardtpr hlasedtrcs
     1021 tpelgldeqs vqpwerrtfp lahspqaece dqldaqeraa rctrrtsgsk tgreteaapt
     1081 sppivplksr hlvaaataqr pthr
//
LOCUS       XP_047293315            1093 aa            linear   PRI 20-MAR-2023
DEFINITION  band 4.1-like protein 3 isoform X2 [Homo sapiens].
ACCESSION   XP_047293315
VERSION     XP_047293315.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437359.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1093
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..1093
                     /product="band 4.1-like protein 3 isoform X2"
                     /calculated_mol_wt=121182
     Region          112..301
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          296..389
                     /region_name="FERM_C_4_1_family"
                     /note="FERM domain C-lobe of Protein 4.1 family; cd13184"
                     /db_xref="CDD:270005"
     Site            order(305,322,324,330)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270005"
     Site            order(334,339..342,377,381,384..385)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Site            377..388
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Region          398..441
                     /region_name="FA"
                     /note="FERM adjacent (FA); pfam08736"
                     /db_xref="CDD:430180"
     Region          724..771
                     /region_name="SAB"
                     /note="SAB domain; pfam04382"
                     /db_xref="CDD:427911"
     Region          979..1085
                     /region_name="4_1_CTD"
                     /note="4.1 protein C-terminal domain (CTD); pfam05902"
                     /db_xref="CDD:428665"
     CDS             1..1093
                     /gene="EPB41L3"
                     /gene_synonym="4.1B; DAL-1; DAL1"
                     /coded_by="XM_047437359.1:12..3293"
                     /db_xref="GeneID:23136"
                     /db_xref="HGNC:HGNC:3380"
                     /db_xref="MIM:605331"
ORIGIN      
        1 mttesgsdse skpdqeaepq eaagaqgrag apvpeppkee qqqaleqfaa aaahstpvrr
       61 evtdkeqefa araakqleyq qleddklsqk ssssklsrsp lkivkkpksm qckvilldgs
      121 eytcdvekrs rgqvlfdkvc ehlnllekdy fgltyrdaen qknwldpake ikkqvrsgaw
      181 hfsfnvkfyp pdpaqlsedi tryylclqlr ddivsgrlpc sfvtlallgs ytvqselgdy
      241 dpdecgsdyi sefrfapnht keledkviel hkshrgmtpa eaemhflena kklsmygvdl
      301 hhakdsegve imlgvcasgl liyrdrlrin rfawpkvlki sykrnnfyik irpgefeqfe
      361 stigfklpnh raakrlwkvc vehhtffrll lpeappkkfl tlgskfrysg rtqaqtrras
      421 alidrpapyf erssskrytm srsldgasvn enheiymkds msaaevgtgq yattkgisqt
      481 nlittvtpek kaeeerdeee dkrrkgeevt pisairhegk spglgtdscp lsppsthcap
      541 tsptelrrrc kendcklpgy epsraehlpg epaldsdgpg rpylgdqdva fsyrqqtgkg
      601 ttlfsfslql pesfpslldd dgylsfpnls etnllpqslq hylpirspsl vpcflfifff
      661 llsasfsvpy altlsfplal clcylepkaa slsasldndp sdsseeetds ertdtaadge
      721 ttateelekt qddlmkhqtn iselkrtfle tstdtavtne wekrlstspv rlaarqedap
      781 mieplvpeet kqssgeklmd gseifslles arkptefigg vtstsqswvq kmetktessg
      841 ieteptvhhl plstekvvqe tvlveerrvv hasgdasysa gdsgdaaaqp aftgikgkeg
      901 saltegakee ggeevakavl eqeetaaasr erqeeqsaai hisetleqkp hfesstvkte
      961 tisfgsvspg gvkleistke vpvvhtetkt ityessqvdp gtdlepgvlm saqtitsett
     1021 sttttthitk tvkggisetr iekrivitgd adidhdqala qaikeakeqh pdmsvtkvvv
     1081 hketeitped ged
//
LOCUS       XP_024307141             246 aa            linear   PRI 20-MAR-2023
DEFINITION  ly6/PLAUR domain-containing protein 4 isoform X4 [Homo sapiens].
ACCESSION   XP_024307141
VERSION     XP_024307141.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024451373.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..246
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..246
                     /product="ly6/PLAUR domain-containing protein 4 isoform
                     X4"
                     /calculated_mol_wt=26632
     Region          142..212
                     /region_name="UPAR_LY6"
                     /note="u-PAR/Ly-6 domain; pfam00021"
                     /db_xref="CDD:394978"
     CDS             1..246
                     /gene="LYPD4"
                     /gene_synonym="SMR"
                     /coded_by="XM_024451373.2:215..955"
                     /db_xref="GeneID:147719"
                     /db_xref="HGNC:HGNC:28659"
ORIGIN      
        1 mgpqhlrlvq lfcllgaist lpragallcy eatasrfrav afhnwkwllm rnmvcklqeg
       61 ceetlvfiet gtargvvgfk gcsssssypa qisylvsppg vsiasysrvc rsylcnnltn
      121 lepfvklkas tpksitsasc scptcvgehm kdclpnfvtt nscplaastc ysstlkfqag
      181 flnttfllmg carehnqlla dfhhigsikv tevlnileks qivgaassrq dpawgvvlgl
      241 lfafrd
//
LOCUS       XP_047295409             490 aa            linear   PRI 20-MAR-2023
DEFINITION  podocan-like protein 1 isoform X7 [Homo sapiens].
ACCESSION   XP_047295409
VERSION     XP_047295409.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439453.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..490
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..490
                     /product="podocan-like protein 1 isoform X7"
                     /calculated_mol_wt=53990
     Region          55..73
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          75..97
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          77..>445
                     /region_name="PLN00113"
                     /note="leucine-rich repeat receptor-like protein kinase;
                     Provisional"
                     /db_xref="CDD:215061"
     Region          98..123
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          124..150
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          151..176
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          177..196
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          198..221
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          222..247
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          248..268
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          269..292
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          340..363
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          364..389
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          411..429
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          435..460
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..490
                     /gene="PODNL1"
                     /gene_synonym="SLRR5B"
                     /coded_by="XM_047439453.1:248..1720"
                     /db_xref="GeneID:79883"
                     /db_xref="HGNC:HGNC:26275"
ORIGIN      
        1 mgrptqwpsl llllllpgpp pvagledaaf phlgeslqpl pracplrcsc prvdtvdcdg
       61 ldlrvfpdni traaqhlslq nnqlqelpyn elsrlsglrt lnlhnnliss eglpdeafes
      121 ltqlqhlcva hnknnliskv prgalsrqtq lrelylqhnq ltdsgldatt fsklhsleyl
      181 dlshnqlttv paglprtlai lhlgrnrirq veaarlhgar glrylllqhn qlgssglpag
      241 alrplrglht lhlygngldr vppalprrlr alvlphnhva algardlvat pgltelnlay
      301 nrlasarvhh rafrrlralr sldlagnqlt rlpmglptgl rtlqlqrnql rmlepeplag
      361 ldqlrelsla hnrlrvgdig pgtwhelqal qmldlshnel sfvppdlpea leelhlegnr
      421 ighvgpeafl stprlralfl ranrlhmtsi aaeaflglpn lrvvdtagnp eqvlirlppt
      481 tprgpraggp
//
LOCUS       XP_047302065            1881 aa            linear   PRI 20-MAR-2023
DEFINITION  protein TANC1 isoform X5 [Homo sapiens].
ACCESSION   XP_047302065
VERSION     XP_047302065.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446109.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1881
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1881
                     /product="protein TANC1 isoform X5"
                     /calculated_mol_wt=204201
     Region          <37..327
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          926..>1238
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          959..985
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(960..961,964..966,968..969,973,976,985,987,989,
                     993..994,997..999,1001..1002,1006,1009,1018,1020,1022,
                     1026..1027,1030..1032,1034..1035,1039)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          987..1018
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1099..1129
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1135..1162
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1136..1228
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          1165..1195
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(1166,1170..1171,1174..1176,1178..1179,1183,1186,
                     1195,1197,1199,1203..1204,1207..1209,1211..1212,1216,1219,
                     1228,1230,1232,1236..1237,1240..1242,1244..1245,1249,1252,
                     1261)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          1197..1228
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1202..1290
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          1230..1261
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1263..1288
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          <1282..1436
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          1312..1337
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(1313..1314,1317..1318,1320,1357,1360..1361,
                     1364..1365,1367..1368,1391,1394..1395,1398..1399,1402)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          1355..1385
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1390..1418
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..1881
                     /gene="TANC1"
                     /gene_synonym="ROLSB; TANC"
                     /coded_by="XM_047446109.1:335..5980"
                     /db_xref="GeneID:85461"
                     /db_xref="HGNC:HGNC:29364"
                     /db_xref="MIM:611397"
ORIGIN      
        1 mtvsykqvlk mlkavlkksr eggkggkkea akdvkvpplp rcagsltpgs dfgpetspvl
       61 hldhsadspv sslptaedty rvslakgvsm slpsspllpr qshlvqsrvn kkspgpvrkp
      121 kyvesprvpg davimpfrev akptepdeha kadnepscsp aaqelltrlg fllgegipsa
      181 thitiedkne tmctalsqgi spcstltsst aspstdspcs tlnscvskta ankspcetis
      241 spsstleskd sgiiatitss senddrsgss lewnkdgnlr lgvqkgvlhd rradncspva
      301 eeettgsaes tlpkaessag dgpvpysqgs sslimprpns vaatsstkle dlsyldgqrn
      361 aplrtsirlp whntagarfa pykpqdillk pllfevpsit tdsvfvgrdw lfhqieenlr
      421 ntelaenrga vvvgnvgfgk taiisklval schgsrmrqi asnspgsspk tsdptqdlhf
      481 tpllspssst sasstaktpl gsisaenqrp redavkylas kvvayhycqa dntytclvpe
      541 fvhsiaallc rshqlaayrd llikepqlqs mlslrscvqd pvaafkrgvl epltnlrneq
      601 kipeeeyiil idglneaefh kpdygdtlss fitkiiskfp awlklivtvr anfqeiisal
      661 pfvklslddf pdnkdihsdl hayvqhrvhs sqdilsnisl ngkadatlig kvsshlvlrs
      721 lgsylylklt ldlfqrghlv iksasykvvp vslselyllq cnmkfmtqsa feralpilnv
      781 alaslhpmtd eqifqainag hiqgeqgwed fqqrmdalsc flikrrdktr mfchpsfrew
      841 lvwradgent aflceprngh allafmfsrq egklnrqqtm elghhilkah ifkglskktg
      901 issshlqalw igysteglsa alaslrnlyt pnvkvsrlli lgganvnyrt evlnnapilc
      961 vqshlgheev vtlllefgac ldgtsengmt alcyaaaagh mklvclltkk gvrvdhldkk
     1021 gqcalvhsal rghgdilqyl ltcewspgpp qpgtlrksha lqqaltaaas mghssvvqcl
     1081 lgmekeheve vngtdtlwge taltaaagrg klevcelllg hgaavsrtnr rgvpplfcaa
     1141 rqghwqivrl llergcdvnl sdkqgrtplm vaaceghlst vefllskgaa lssldkegls
     1201 alswaclkgh ravvqylvee gaaidqtdkn grtpldlaaf ygdaetvlyl vekgaviehv
     1261 dhsgmrpldr aigcrntsvv vallrkgakl gnaawamats kpdiliillq klmeegnvmy
     1321 kkgkmkeaaq ryqyalrkfp regfgedmrp fnelrvslyl nlsrcrrktn dfgmaeefas
     1381 kalelkpksy eafyararak rnsrqfvaal adlqeavklc ptnqevkrll arveeeckql
     1441 qrsqqqkqqg plpaplndse needtptpgl sdhfhseete eeetspqees vsptprsqps
     1501 ssvpssyirn lqeglqskgr pvspqsragi gkslrepvaq pglllqpskq aqivktsqhl
     1561 gsgqsavrng smkvqissqn pppspmpgri aatpagsrtq hlegtgtftt ragcghfgdr
     1621 lgpsqnvrlq cgengpahpl psktktterl lshssvavda appnqgglat csdvrhpasl
     1681 tssgssgsps ssikmsssts sltssssfsd gfkvqgpdtr ikdkvvthvq sgtaehrprn
     1741 tpfmgimdkt arfqqqsnpp srswhcpape glltntssaa glqsantekp slmqvggynn
     1801 qaktcsvstl sasvhngaqv keleeskcqi pvhsqenrit ktvshlyqes iskqqphisn
     1861 eahrshltaa kpkrsfiesn v
//
LOCUS       XP_047297594             990 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform
            X1 [Homo sapiens].
ACCESSION   XP_047297594
VERSION     XP_047297594.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441638.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..990
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..990
                     /product="serine/threonine-protein phosphatase 6
                     regulatory subunit 2 isoform X1"
                     /calculated_mol_wt=107412
     Region          150..555
                     /region_name="SAPS"
                     /note="SIT4 phosphatase-associated protein; pfam04499"
                     /db_xref="CDD:398279"
     Region          <724..981
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..990
                     /gene="PPP6R2"
                     /gene_synonym="KIAA0685; PP6R2; SAP190; SAPS2"
                     /coded_by="XM_047441638.1:94..3066"
                     /db_xref="GeneID:9701"
                     /db_xref="HGNC:HGNC:19253"
                     /db_xref="MIM:610877"
ORIGIN      
        1 mdfqdlglvl lrvdlqssaa vtmfwkfdln ttshvdklld kehvtlqelm deddilqeck
       61 aqnqklldfl crqqcmeelv slitqdppld meekvrfkyp ntacelltcd vpqisdrlgg
      121 desllsllyd fldhepplnp llasffskti gnliarkteq vitflkkkdk fislvlkhig
      181 tsalmdlllr lvscvepagl rqdvlhwlne ekviqrlvel ihpsqdedrq snasqtlcdi
      241 vrlgrdqgsq lqealepdpl ltalesrqdc veqllknmfd gdrtesclvs gtqvlltlle
      301 trrvgteglv dsfsqglers yavsssvlhg ieprlkdfhq lllnppkkka ilttigvlee
      361 plgnarlhga rlmaallhtn tpsinqelcr lntmdllldl ffkytwnnfl hfqvelciaa
      421 ilshaareer teasgsesrv epphengnrs letpqpaasl pdntmvthlf qkcclvqril
      481 eaweandhtq aaggmrrgnm ghltrianav vqnlergpvq thisevirgl padcrgrwes
      541 fveetltetn rrntvdlvst hhlhsssede diegafpnel slqqafsdyq iqqmtanfvd
      601 qfgfndeefa dqddninapf driaeinfni dadedspsaa lfeaccsdri qpfdddeded
      661 iwedsdtrca arvmarprfg aphasescsk ngperggqdg kasleahrda pgagappapg
      721 kkeappvegd seagamwtav fdepanstpt apgvvrdvgs svwaagtsap eekgwakftd
      781 fqpfccsesg prcsspvdte cshaegsrsq gpekasqasy favspaspca wnvcvtrkap
      841 llasdssssg gshsedgdqk aasamdavsr gpgreapplp tvarteeavg rvgcadsrll
      901 spacpapkev taapavavpp eatvaittal skagpaiptp avssalavav plgpimavta
      961 apamvatlgt vtkdgktdap pegaalngpv
//
LOCUS       XP_016861650             338 aa            linear   PRI 20-MAR-2023
DEFINITION  probable G-protein coupled receptor 160 isoform X1 [Homo sapiens].
ACCESSION   XP_016861650
VERSION     XP_016861650.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017006161.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..338
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..338
                     /product="probable G-protein coupled receptor 160 isoform
                     X1"
                     /calculated_mol_wt=39656
     CDS             1..338
                     /gene="GPR160"
                     /gene_synonym="GPCR1; GPCR150"
                     /coded_by="XM_017006161.3:837..1853"
                     /db_xref="GeneID:26996"
                     /db_xref="HGNC:HGNC:23693"
ORIGIN      
        1 mtalssencs fqyqlrqtnq pldvnyllfl iilgkillni ltlgmrrknt cqnfmeyfci
       61 slafvdllll vnisiilyfr dfvllsirft kyhiclftqi isftygflhy pvfltacidy
      121 clnfskttkl sfkcqklfyf ftviliwisv layvlgdpai yqslkaqnay srhcpfyvsi
      181 qsywlsffmv milfvafitc weevttlvqa iritsymnet ilyfpfsshs sytvrskkif
      241 lsklivcfls twlpfvllqv iivllkvqip ayiemnipwl yfvnsfliat vywfnchkln
      301 lkdiglpldp fvnwkccfip ltipnleqie kpisimic
//
LOCUS       XP_024309252             498 aa            linear   PRI 20-MAR-2023
DEFINITION  complex I assembly factor ACAD9, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_024309252
VERSION     XP_024309252.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453484.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..498
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..498
                     /product="complex I assembly factor ACAD9, mitochondrial
                     isoform X1"
                     /calculated_mol_wt=54953
     Region          <1..322
                     /region_name="ACAD"
                     /note="Acyl-CoA dehydrogenase; cl09933"
                     /db_xref="CDD:447864"
     Site            order(25,55,57,90,92,301..303,305,307)
                     /site_type="active"
                     /db_xref="CDD:173838"
     CDS             1..498
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /coded_by="XM_024453484.2:241..1737"
                     /db_xref="GeneID:28976"
                     /db_xref="HGNC:HGNC:21497"
                     /db_xref="MIM:611103"
ORIGIN      
        1 mysrlgeiis mdgsitvtla ahqaiglkgi ilagteeqka kylpklasge hiaafcltep
       61 asgsdaasir sratlsedkk hyilngskvw itngglanif tvfaktevvd sdgsvkdkit
      121 afiverdfgg vtngkpedkl girgsntcev hfentkipve nilgevgdgf kvamnilnsg
      181 rfsmgsvvag llkrliemta eyactrkqfn krlsefgliq ekfalmaqka yvmesmtylt
      241 agmldqpgfp dcsieaamvk vfsseaawqc vsealqilgg lgytrdypye rilrdtrill
      301 ifegtneilr myialtglqh agrilttrih elkqakvstv mdtvgrrlrd slgrtvdlgl
      361 tgnhgvvhps ladsankfee ntycfgrtve tlllrfgkti meeqlvlkrv anilinlygm
      421 tavlsrasrs iriglrnhdh evllantfcv eaylqnlfsl sqldkyapen ldeqikkvsq
      481 qilekrayic ahpldrtc
//
LOCUS       XP_011529989             354 aa            linear   PRI 20-MAR-2023
DEFINITION  ras association domain-containing protein 6 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011529989
VERSION     XP_011529989.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011531687.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..354
                     /product="ras association domain-containing protein 6
                     isoform X1"
                     /calculated_mol_wt=41510
     Region          219..305
                     /region_name="RA_RASSF6"
                     /note="Ras-associating (RA) domain found in
                     Ras-association domain-containing protein 6 (RASSF6);
                     cd17223"
                     /db_xref="CDD:340743"
     Region          315..>344
                     /region_name="SARAH_SF"
                     /note="C-terminal SARAH domain found in scaffold protein
                     salvador (Sav), Ras-association domain proteins, and
                     mammalian STE20-like protein kinases (MST); cl45900"
                     /db_xref="CDD:459245"
     CDS             1..354
                     /gene="RASSF6"
                     /coded_by="XM_011531687.3:132..1196"
                     /db_xref="GeneID:166824"
                     /db_xref="HGNC:HGNC:20796"
                     /db_xref="MIM:612620"
ORIGIN      
        1 mlweetgaap aparasdlpy rissdhlkke ekmtmmahqy pswifinekt fitreqlnsl
       61 lktynifyen qknlhilyge tedgkliveg mldifwgvkr piqlkiqdek pfssftsmks
      121 sdvfsskgmt rwgefddlyr iseldrtqip msekrnsqed ylsyhsntlk phakdepdsp
      181 vlyrtmseaa lvrkrmkplm mdrkerqknr asinghfynh etsifipafe setkvrvnsn
      241 mrteevikql lqkfkiensp qdfalhiifa tgeqrrlkkt dipllqrllq gpseknarif
      301 lmdkdaeeis sdvaqyinfh fsllesilqr lneeekreiq rivtnlsssh fqiq
//
LOCUS       XP_047305972            1219 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-G-associated kinase isoform X25 [Homo sapiens].
ACCESSION   XP_047305972
VERSION     XP_047305972.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047450016.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1219
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1219
                     /product="cyclin-G-associated kinase isoform X25"
                     /calculated_mol_wt=132674
     Region          25..228
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          308..470
                     /region_name="PTP_GAK"
                     /note="protein tyrosine phosphatase-like domain of
                     cyclin-G-associated kinase; cd14564"
                     /db_xref="CDD:350412"
     Region          478..616
                     /region_name="PTEN_C2"
                     /note="C2 domain of PTEN tumor-suppressor protein;
                     pfam10409"
                     /db_xref="CDD:431265"
     Region          716..>1053
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     Region          <1168..1212
                     /region_name="DnaJ"
                     /note="DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock
                     protein 40) proteins are highly conserved and play crucial
                     roles in protein translation, folding, unfolding,
                     translocation, and degradation. They act primarily by
                     stimulating the ATPase activity of Hsp70s; cd06257"
                     /db_xref="CDD:99751"
     Site            order(1183..1185,1197,1200..1201,1204..1205)
                     /site_type="other"
                     /note="HSP70 interaction site [polypeptide binding]"
                     /db_xref="CDD:99751"
     CDS             1..1219
                     /gene="GAK"
                     /gene_synonym="DNAJ26; DNAJC26"
                     /coded_by="XM_047450016.1:652..4311"
                     /db_xref="GeneID:2580"
                     /db_xref="HGNC:HGNC:4113"
                     /db_xref="MIM:602052"
ORIGIN      
        1 mdfgvavvsa qncghgyvrs pltrqlqkkl sghpnivqfc saasigkees dtgqaeflll
       61 telckgqlve flkkmesrgp lscdtvlkif yqtcravqhm hrqkppiihr dlkvenllls
      121 nqgtiklcdf gsattishyp dyswsaqrra lveeealgci lyllcfrqhp fedgaklriv
      181 ngkysipphd tqytvfhsli ramlqvnpee rlsiaevvhq lqeiaaarnv npkspitell
      241 eqnggygsat lsrgppppvg pagsgysggl alaeydqpyg gfldilrggt erlftnlkdt
      301 sskviqsvan yakgdldisy itsriavmsf paegvesalk nniedvrlfl dskhpghyav
      361 ynlsprtyrp srfhnrvsec gwaarraphl htlynicrnm hawlrqdhkn vcvvhcmdgr
      421 aasavavcsf lcfcrlfsta eaavymfsmk rcppgiwpsh kryieymcdm vaeepitphs
      481 kpilvravvm tpvplfskqr sgcrpfcevy vgdervasts qeydkmrdfk iedgkavipl
      541 gvtvqgdvli viyharstlg grlqakmasm kmfqiqfhtg fvprnattvk fakydldacd
      601 iqekypdlfq vnlevevepr drpsreappw enssmrglnp kilfssreeq qdilskfgkp
      661 elprqpgsta qydagagspe aeptdsdspp sssadasrfl htldwqeeke aetgaenass
      721 kesesalmed rdesevsdeg gspissegqe pradpeppgl aaglvqqdlv fevetpavlp
      781 epvpqedgvd llglhsevga gpavppqack apssntdlls cllgppeaas qgppedllse
      841 dplllaspap plsvqstprg gppaaadpfg pllpssgnns qpcsnpdlfg eflnsdsvtv
      901 ppsfpsahsa pppscsadfl hlgdlpgeps kmtasssnpd llggwaawte taasavaptp
      961 ategplfspg gqpapcgsqa swtksqnpdp fadlgdlssg lqgspagfpp ggfipktatt
     1021 pkgssswqts rppaqgaswp pqakpppkac tqprpnyasn fsvigareer gvrapsfaqk
     1081 pkvsendfed llsnqgfssr sdkkgpktia emrkqdlakd tdplklklld wiegkernir
     1141 allstlhtvl wdgesrwtpv gmadlvapeq vkkhyrravl avhpdkaagq pyeqhakmif
     1201 melndawsef enqgsrplf
//
LOCUS       XP_047306057            2038 aa            linear   PRI 20-MAR-2023
DEFINITION  protein furry homolog-like isoform X13 [Homo sapiens].
ACCESSION   XP_047306057
VERSION     XP_047306057.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047450101.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2038
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..2038
                     /product="protein furry homolog-like isoform X13"
                     /calculated_mol_wt=228931
     Region          <127..890
                     /region_name="MOR2-PAG1_mid"
                     /note="Cell morphogenesis central region; pfam14228"
                     /db_xref="CDD:433790"
     Region          1032..1285
                     /region_name="MOR2-PAG1_C"
                     /note="Cell morphogenesis C-terminal; pfam14225"
                     /db_xref="CDD:433788"
     Region          1315..2038
                     /region_name="Fry_C"
                     /note="Furry protein C-terminal; pfam19421"
                     /db_xref="CDD:437253"
     CDS             1..2038
                     /gene="FRYL"
                     /gene_synonym="AF4p12; KIAA0826; MOR2"
                     /coded_by="XM_047450101.1:207..6323"
                     /db_xref="GeneID:285527"
                     /db_xref="HGNC:HGNC:29127"
ORIGIN      
        1 mkrrrrrdil rvqlvrifel ladagvishs asggldneth flnntlleyv dltrqlleae
       61 nekdsdtlkd irchfsalva niiqnvpvhq rrsifpqqsl rhslfmlfsh wagpfsimft
      121 pldrysdrnm qinrhqycal kamsavlccg pvadnvglss dgylykwldn ildsldkkvh
      181 qlgceavtll lelnpdqsnl mywavdrcyt gsgrvaagcf kaianvfqnr dyqcdtvmll
      241 nlilfkaads srsiyevamq llqilepkmf ryahklevqr tdgvlsqlsp lphlysvsyy
      301 qlseelaray peltlaifse isqriqtahp agrqvmlhyl lpwmnnielv dlkplptarr
      361 hdededdslk drelmvtsrr wlrgegwgsp qatamvlnnl mymtakygde lawsevenvw
      421 ttladgwpkn lkiilhflis icgvnsepsl lpyvkkvivy lgrdktmqll eelvselqlt
      481 dpvssgvthm dnppyyrits sykipsvtsg ttsssntmva ptdgnpdnkp ikenieesyv
      541 hldiysglns hlnrqhhrle sryssssggs yeeeksdsmp lysnwrlkvm ehnqgeplpf
      601 ppaggcwspl vdyvpetssp glplhrcnia villtdliid hsvkvewgsy lhlllhaifi
      661 gfdhchpevy ehckrlllhl livmgpnsni rtvasvllrn kefneprvlt vkqvahldyn
      721 ftagindfip dyqpspmtds glsssstsss islgnnsaai shlhttilne vdisveqdgk
      781 vktlmefits rkrgplwnhe dvsaknpsik saeqlttflk hvvsvfkqss segihlehhl
      841 sevalqtals cssrhyagrs fqifralkqp ltattlsdvl srlvetvgdp gedaqgfvie
      901 llltlesaid tlaetmkhyd llsalsqtsy hdpimgnkya anrkstgqln lstspinsss
      961 ylgynsnars nslrlsligd rrgdrrrsnt ldimdgrinh ssslartrsl sslrekgmyd
     1021 vqstteptnl matifwiaas llesdyeyey llalrllnkl lihlpldkse srekienvqs
     1081 klkwtnfpgl qqlflkgfts astqemtvhl lsklisvskh tlvdpsqlsg fplnilcllp
     1141 hliqhfdspt qfcketasri akvcaeekcp tlvnlahmms lysthtysrd csnwinvvcr
     1201 ylhdsfsdtt fnlvtylael lekglssmqq sllqiiysll shidlsaapa kqfnleiiki
     1261 igkyvqspyw kealnilklv vsrsaslvvp sdipktyggd tgspeisftk ifnnvskelp
     1321 gktldfhfdi setpiignky gdqhsaagrn gkpkviavtr stsstssgsn snalvpvswk
     1381 rpqlsqrrtr eklmnvlslc gpesglpknp svvfssnedl evgdqqtsli sttedinqee
     1441 evavednsse qqfgvfkdfd fldveledae gesmdnfnwg vrrrsldsid kgdtpslqey
     1501 qcssstpsln ltnqedtdes seeeaaltas qilsrtqmln sdsatdetip dhpdlllqse
     1561 dstgsittee vlqirdetpt leasldnans rlpedttsvl keehvttfed egsyiiqeqq
     1621 eslvcqgild leetempepl apesypesvc eedvtlalke lderceeeea dfsglssqde
     1681 eeqdgfpevq tsplpspfls aiiaafqpva yddeeeawrc hvnqmlsdtd gssavftfhv
     1741 fsrlfqtiqr kfgeitneav sflgdslqri gtkfksslev mmlcsecptv fvdaetlmsc
     1801 glletlkfgv lelqehldty nvkreaaeqw lddckrtfga kedmyrintd aqelelcrrl
     1861 yklhfqllll fqaycklinq vntikneaev inmseelaql esilkeaesa seneeidisk
     1921 aaqttietai hslietlknk efisavaqvk afrslwpsdi fgsceddpvq tllhiyfhhq
     1981 tlgqtgsfav igsnldmsea nyklmelnle ireslrmvqs yqllaqakpm gnmvstgf
//
LOCUS       XP_047271724             595 aa            linear   PRI 20-MAR-2023
DEFINITION  la-related protein 7 isoform X1 [Homo sapiens].
ACCESSION   XP_047271724
VERSION     XP_047271724.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047415768.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..595
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..595
                     /product="la-related protein 7 isoform X1"
                     /calculated_mol_wt=68265
     Region          30..111
                     /region_name="LARP_7"
                     /note="La RNA-binding domain of La-related protein 7;
                     cd08032"
                     /db_xref="CDD:153401"
     Site            order(41,44..45,50,53..54,56,77..79)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:153401"
     Region          <117..300
                     /region_name="RRM"
                     /note="RNA recognition motif (RRM) domain [Translation,
                     ribosomal structure and biogenesis]; COG0724"
                     /db_xref="CDD:223796"
     Region          126..205
                     /region_name="RRM1_LARP7"
                     /note="RNA recognition motif 1 (RRM1) found in La-related
                     protein 7 (LARP7) and similar proteins; cd12290"
                     /db_xref="CDD:409732"
     Region          467..548
                     /region_name="RRM2_LARP7"
                     /note="RNA recognition motif 2 in La-related protein 7
                     (LARP7) and similar proteins; cd12542"
                     /db_xref="CDD:409958"
     CDS             1..595
                     /gene="LARP7"
                     /gene_synonym="ALAZS; HDCMA18P; hLARP7; PIP7S"
                     /coded_by="XM_047415768.1:161..1948"
                     /db_xref="GeneID:51574"
                     /db_xref="HGNC:HGNC:24912"
                     /db_xref="MIM:612026"
ORIGIN      
        1 metesgnqek vmeeestekk kevekkkrsr vkqvladiak qvdfwfgdan lhkdrflreq
       61 ieksrdgyvd isllvsfnkm kklttdgkli aralrssavv eldlegtrir rkkplgerpk
      121 dedertvyve llpknvnhsw iervfgkcgn vvyisiphyk stgdpkgfaf vefetkeqaa
      181 kaieflnnpp eeaprkpgif pktvknkpip alrvveekkk kkkkkgrmkk edniqakeen
      241 mdtsntsisk mkrsrptseg sdiestepqk qcskkkkkrd rveasslpev rtgkrkrsss
      301 edaeslaprs kvkkiiqkdi ikeaseaske nrapclngel fylfqdieis teeekdtgdl
      361 kdssllktkr khkkkhkerh kmgeeviplr vlsksewmdl kkeylalqka smaslkktis
      421 qiksesemet dsgvpqntgm knektanree crtqekvnat gpqfvsgviv kiisteplpg
      481 rkqvrdtlaa isevlyvdll egdtecharf ktpedaqavi nayteinkkh cwkleilsgd
      541 heqrywqkil vdrqaklnqp rekkrgtekl itkaekirla ktqqaskhir fseyd
//
LOCUS       XP_011530331             728 aa            linear   PRI 20-MAR-2023
DEFINITION  polycystin-2 isoform X2 [Homo sapiens].
ACCESSION   XP_011530331
VERSION     XP_011530331.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011532029.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..728
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..728
                     /product="polycystin-2 isoform X2"
                     /calculated_mol_wt=83806
     Region          29..447
                     /region_name="PKD_channel"
                     /note="Polycystin cation channel; pfam08016"
                     /db_xref="CDD:400395"
     Region          <484..552
                     /region_name="EFh_HEF"
                     /note="EF-hand, calcium binding motif, found in the
                     hexa-EF hand proteins family; cl23634"
                     /db_xref="CDD:355006"
     Region          514..542
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320075"
     Region          594..628
                     /region_name="Fer4_24"
                     /note="Ferredoxin I 4Fe-4S cluster domain; pfam18109"
                     /db_xref="CDD:436280"
     CDS             1..728
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /coded_by="XM_011532029.2:98..2284"
                     /db_xref="GeneID:5311"
                     /db_xref="HGNC:HGNC:9009"
                     /db_xref="MIM:173910"
ORIGIN      
        1 mmssnvyyyt rmmsqlfldt pvsktektnf ktlssmedfw kftegslldg lywkmqpsnq
       61 teadnrsfif yenlllgvpr irqlrvrngs csipqdlrde ikecydvysv ssedrapfgp
      121 rngtawiyts ekdlngsshw giiatysgag yyldlsrtre etaaqvaslk knvwldrgtr
      181 atfidfsvyn aninlfcvvr llvefpatgg vipswqfqpl kliryvttfd fflaaceiif
      241 cffifyyvve eileirihkl hyfrsfwncl dvvivvlsvv aiginiyrts nvevllqfle
      301 dqntfpnfeh laywqiqfnn iaavtvffvw iklfkfinfn rtmsqlsttm srcakdlfgf
      361 aimffiifla yaqlaylvfg tqvddfstfq eciftqfrii lgdinfaeie eanrvlgpiy
      421 fttfvffmff illnmflaii ndtysevksd laqqkaemel sdlirkgyhk alvklklkkn
      481 tvddiseslr qgggklnfde lrqdlkgkgh tdaeieaift kydqdgdqel tehehqqmrd
      541 dlekeredld ldhsslprpm ssrsfprsld dseedddeds ghssrrrgsi ssgvsyeefq
      601 vlvrrvdrme hsigsivski davivkleim eraklkrrev lgrlldgvae derlgrdsei
      661 hreqmerlvr eelerwesdd aasqishglg tpvglngqpr prssrpsssq stegmegagg
      721 ngssnvhv
//
LOCUS       XP_016865148             313 aa            linear   PRI 20-MAR-2023
DEFINITION  prostaglandin E2 receptor EP4 subtype isoform X3 [Homo sapiens].
ACCESSION   XP_016865148
VERSION     XP_016865148.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009659.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..313
                     /product="prostaglandin E2 receptor EP4 subtype isoform
                     X3"
                     /calculated_mol_wt=34117
     Region          18..289
                     /region_name="7tmA_PGE2_EP4"
                     /note="prostaglandin E2 receptor EP4 subtype, member of
                     the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15142"
                     /db_xref="CDD:320270"
     Region          19..45
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320270"
     Region          54..80
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320270"
     Region          92..122
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320270"
     Region          134..156
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320270"
     Region          180..209
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320270"
     Region          265..289
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320270"
     CDS             1..313
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /coded_by="XM_017009659.3:608..1549"
                     /db_xref="GeneID:5734"
                     /db_xref="HGNC:HGNC:9596"
                     /db_xref="MIM:601586"
ORIGIN      
        1 mstpgvnssa slspdrlnsp vtipavmfif gvvgnlvaiv vlcksrkeqk ettfytlvcg
       61 lavtdllgtl lvspvtiaty mkgqwpggqp lceystfill ffslsglsii camsveryla
      121 inhayfyshy vdkrlagltl favyasnvlf calpnmglgs srlqypdtwc fidwttnvta
      181 haaysymyag fssflilatv lcnvlvcgal lrmhrqfmrr tslgteqhha aaaasvasrg
      241 hpaaspalpr lsdfrrrrsf rriagaeiqm villiatslv vlicsiplva inpishhgre
      301 gqkrtpvtfp knv
//
LOCUS       XP_011534058             965 aa            linear   PRI 20-MAR-2023
DEFINITION  filamin-A-interacting protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_011534058
VERSION     XP_011534058.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011535756.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..965
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..965
                     /product="filamin-A-interacting protein 1 isoform X3"
                     /calculated_mol_wt=109170
     Region          <3..498
                     /region_name="PRK03918"
                     /note="DNA double-strand break repair ATPase Rad50"
                     /db_xref="CDD:235175"
     Region          <668..962
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     CDS             1..965
                     /gene="FILIP1"
                     /gene_synonym="FILIP"
                     /coded_by="XM_011535756.3:264..3161"
                     /db_xref="GeneID:27145"
                     /db_xref="HGNC:HGNC:21015"
                     /db_xref="MIM:607307"
ORIGIN      
        1 mlvderqmhi eqlglqsqkv qdltqklree eeklkaitsk skedrqkllk levdfehkas
       61 rfsqeheemn aklanqeshn rqlrlklvgl tqrieeleet nknlqkaeee lqelrdkiak
      121 gecgnsslma evenlrkrvl emegkdeeit ktesqcrelr kklqeeehhs kelrlevekl
      181 qkrmselekl eeafskskse ctqlhlnlek eknltkdlln elevvksrvk elecsesrle
      241 kaelslkddl tklksftvml vderknmmek ikqeerkvdg lnknfkveqg kvmdvtekli
      301 eeskkllklk semeekvynl trerdeligk lkseeeksse lscsvdllkk rldgieever
      361 eitrgrsrkg seltcpednk ikeltleier lkkrlqqlev vegdlmkted eydqleqkfr
      421 teqdkanfls qqleeikhqi aknkaiekge vvsqeaelrh rfrleeaksr dlkaevqalk
      481 ekihelmnke dqlsqlqvdy svlqqrfmee enknknmgqe vlnltkelel skrysralrp
      541 svngrrmvdv pvtstgvqtd avsgeaaeee tpavfirksf qeenhimsnl rqvglkkpve
      601 rssvldrypp aaneltmrks wipwmrkren gpsitqekgp rtnsspghpg evvlspkqgq
      661 plhirvtpdh enstatleit sptseeffss ttviptlgnq kpritiipsp nvmpqkqksg
      721 dttlgperam spvtittfsr ektpesgrga fadrptspiq imtvstsaap aeiavspesq
      781 empmgrtilk vtpekqtvpt pvrkynsnan iittednkih ihlgsqfkrs pgtsgegvsp
      841 vitvrpvnvt aekevstgtv lrsprnhlss rpgaskvtst ititpvttss argtqsvsgq
      901 dgssqrptpt ripmskgmka gkpvvaapga gnltkfepra etqsmkielk ksaassttsl
      961 gggkg
//
LOCUS       XP_047276414             195 aa            linear   PRI 20-MAR-2023
DEFINITION  platelet-derived growth factor subunit A isoform X9 [Homo sapiens].
ACCESSION   XP_047276414
VERSION     XP_047276414.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420458.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..195
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..195
                     /product="platelet-derived growth factor subunit A isoform
                     X9"
                     /calculated_mol_wt=22023
     Region          21..94
                     /region_name="PDGF_N"
                     /note="Platelet-derived growth factor, N terminal region;
                     pfam04692"
                     /db_xref="CDD:428069"
     Region          93..180
                     /region_name="PDGF"
                     /note="Platelet-derived and vascular endothelial growth
                     factors (PDGF, VEGF) family; smart00141"
                     /db_xref="CDD:197537"
     Site            order(93..96,132,134..137,152..155)
                     /site_type="active"
                     /note="receptor binding interface [active]"
                     /db_xref="CDD:238079"
     Site            order(95,128,132,139,176,178)
                     /site_type="other"
                     /note="cysteine knot motif"
                     /db_xref="CDD:238079"
     Site            order(122,131)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238079"
     CDS             1..195
                     /gene="PDGFA"
                     /gene_synonym="PDGF-A; PDGF1"
                     /coded_by="XM_047420458.1:130..717"
                     /db_xref="GeneID:5154"
                     /db_xref="HGNC:HGNC:8799"
                     /db_xref="MIM:173430"
ORIGIN      
        1 mlisllnqkl sapslpprps eaeiprevie rlarsqihsi rdlqrlleid svgsedsldt
       61 slrahgvhat khvpekrplp irrkrsieea vpavcktrtv iyeiprsqvd ptsanfliwp
      121 pcvevkrctg ccntssvkcq psrvhhrsvk vakveyvrkk pklkevqvrl eehlecacat
      181 tslnpdyree dtdvr
//
LOCUS       XP_047276596             660 aa            linear   PRI 20-MAR-2023
DEFINITION  protein PHTF2 isoform X5 [Homo sapiens].
ACCESSION   XP_047276596
VERSION     XP_047276596.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420640.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..660
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..660
                     /product="protein PHTF2 isoform X5"
                     /calculated_mol_wt=74379
     Region          5..154
                     /region_name="Phtf-FEM1B_bdg"
                     /note="Male germ-cell putative homeodomain transcription
                     factor; pfam12129"
                     /db_xref="CDD:432350"
     CDS             1..660
                     /gene="PHTF2"
                     /coded_by="XM_047420640.1:235..2217"
                     /db_xref="GeneID:57157"
                     /db_xref="HGNC:HGNC:13411"
                     /db_xref="MIM:616785"
ORIGIN      
        1 maskvtdaiv wyqkkigayd qqiweksveq reikglrnkp kktahvkpdl idvdlvrgsa
       61 fakakpespw tsltrkgivr vvffpfffrw wlqvtskvif fwllvlyllq vaaivlfcst
      121 ssphsiplte vigpiwlmll lgtvhcqivs trtpkpplst ggkrrrklrk aahlevhreg
      181 dgssttdntq egavqnhgts tshsvgtvfr dlwhaaffls gskkaknsid kstetdngyv
      241 sldgkktvks gedgiqnhep qcetirpeet awntgtlrng pskdtqrtit nvsdevssee
      301 gpetgyslrr hvdrtsegvl rnrkshhykk hypnedapks gtscssrcss srqdsesarp
      361 esetedvlwe dllhcaechs sctsetdven hqinpcvkke yrddpfhqvn shipgigyqi
      421 fgnavslilg ltpfvfrlsq atdleqltah saselyviaf gsnedvivls mviisfvvrv
      481 slvwifffll cvaertykqr rgpqrsvdvi vssaflltis vvficcaqll hvheifldch
      541 ynwelviwci sltlfllrfv tlgsetskky sntsillteq inlylkmekk pnkkeeltlv
      601 nnvlklatkl lkeldspfrl ygltmnplly nitqvvilsa vsgvisdllg fnlklwkiks
//
LOCUS       XP_047276980             460 aa            linear   PRI 20-MAR-2023
DEFINITION  AP-4 complex subunit mu-1 isoform X1 [Homo sapiens].
ACCESSION   XP_047276980
VERSION     XP_047276980.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421024.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..460
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..460
                     /product="AP-4 complex subunit mu-1 isoform X1"
                     /calculated_mol_wt=50560
     Region          3..148
                     /region_name="AP4_Mu_N"
                     /note="AP-4 complex subunit mu N-terminal domain; cd14838"
                     /db_xref="CDD:341442"
     Site            order(18,21,45..46,62,64,66,78..80,82..84,87,91,117..118,
                     121..122,124..126,128..131,140,142..143)
                     /site_type="other"
                     /note="putative AP-4 beta interface [polypeptide binding]"
                     /db_xref="CDD:341442"
     Region          182..460
                     /region_name="AP-4_Mu4_Cterm"
                     /note="C-terminal domain of medium Mu4 subunit in adaptor
                     protein (AP) complex AP-4; cd09253"
                     /db_xref="CDD:271161"
     Site            order(195..197,224,335,417,419,428,445..448,450)
                     /site_type="other"
                     /note="putative signal peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271161"
     Site            order(261..264,266,268,271..272,287,290)
                     /site_type="signal peptide"
                     /note="signal peptide binding site [polypeptide binding]"
                     /db_xref="CDD:271161"
     CDS             1..460
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /coded_by="XM_047421024.1:266..1648"
                     /db_xref="GeneID:9179"
                     /db_xref="HGNC:HGNC:574"
                     /db_xref="MIM:602296"
ORIGIN      
        1 misqffilss kgdpliykdf rgdsggrdva elfyrkltgl pgdespvvmv tsggrrhhhg
       61 rhfihirhsg lylvvttsen vspfsllell srlatllgdy cgslgegtis rnvalvyell
      121 devldygyvq ttstemlrnf iqteavvskp fslfdlssvg lfgaetqqsk vapssaasrp
      181 vlssrsdqsq knevfldvve rlsvliasng sllkvdvqge irlksflpsg semrigltee
      241 fcvgkselrg ygpgirvdev sfhssvnlde feshrilrlq ppqgeltvmr yqlsddlpsp
      301 lpfrlfpsvq wdrgsgrlqv ylklrcdlls ksqalnvrlh lplprgvvsl sqelsspeqk
      361 aelaegalrw dlprvqggsq lsglfqmdvp gppgppshgl stsasplglg paslsfelpr
      421 htcsglqvrf lrlafrpcgn anphkwvrhl shsdayviri
//
LOCUS       XP_047278410            1306 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 10 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047278410
VERSION     XP_047278410.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422454.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1306
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1306
                     /product="rho guanine nucleotide exchange factor 10
                     isoform X3"
                     /calculated_mol_wt=144139
     Region          <3..250
                     /region_name="PTZ00441"
                     /note="sporozoite surface protein 2 (SSP2); Provisional"
                     /db_xref="CDD:240420"
     Region          359..543
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(365,369,467,494..495,498..499,501..502,505..506,
                     509..510,513,539,543)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          566..715
                     /region_name="PH_19"
                     /note="PH domain; pfam19057"
                     /db_xref="CDD:436928"
     Region          823..1305
                     /region_name="WD40_2"
                     /note="WD40 repeated domain; pfam19056"
                     /db_xref="CDD:436927"
     CDS             1..1306
                     /gene="ARHGEF10"
                     /gene_synonym="GEF10; SNCV"
                     /coded_by="XM_047422454.1:197..4117"
                     /db_xref="GeneID:9639"
                     /db_xref="HGNC:HGNC:14103"
                     /db_xref="MIM:608136"
ORIGIN      
        1 mdqreplppa paenemkydt nnneeeegeq fdfdsgdeip eadrqapsap etggagasea
       61 paptggedga gaettpvaep tklvlpmkvn pysviditpf qedqpptpvp saeeenvglh
      121 vpcgylvpvp cgyavpsnlp lllpaysspv iicatsldee aetpevtedr qpnslsseep
      181 ptsedqvgre dsalarwaad pantawmenp eeaiyddvpr ensdsepdem iyddvengde
      241 ggnssleygw sssefesyee qsdseckngi prsflrsnhk kqmqklvkaa kdgtkdgler
      301 traavkrgrs firtksliaq dhrssleeeq nlfidvdckh peailtpmpe glsqqqvvrr
      361 yilgsvvdse knyvdalkri leqyekplse mepkvlserk lktvfyrvke ilqchslfqi
      421 alasrvsewd svemigdvfv asfsksmvld ayseyvnnfs tavavlkktc atkpaflefl
      481 kqeqeaspdr ttlyslmmkp iqrfpqfill lqdmlkntsk ghpdrlplqm alteletlae
      541 klnerkrdad qrcevkqiak ainerylnkl lssgsrylir sddmietvyn drgeivktke
      601 rrvfmlndvl mcatvssrps hdsrvmssqr yllkwsvplg hvdaieygss agtgehsrhl
      661 avhppeslav vanakpnkvy mgpgqlyqdl qnllhdlnvi gqitqlignl kgnyqnlnqs
      721 vahdwtsglq rlilkkedei raadccriql qlpgkqdksg rptfftavfn tftpaikesw
      781 vnslqmakla leeenhmgwf cveddgnhik kekhpllvgh mpvmvakqqe fkiecaaynp
      841 epylnnesqp dsfstahgfl wigscthqmg qiaivsfqns tpkviecfnv esrilcmlyv
      901 pveekrrepg appdpetpav rasdvpticv gteegsisiy kssqgskkvr lqhfftpeks
      961 tvmslactsq slyaglvnga vasyarapdg swdsepqkvi klgvlpvrsl lmmedtlwaa
     1021 sggqvfiisv ethavegqle ahqeegmvis hmavsgvgiw iaftsgstlr lfhtetlkhl
     1081 qdiniatpvh nmlpghqrls vtsllvchgl lmvgtslgvl valpvprlqg ipkvtgrgmv
     1141 syhahnspvk fivlatalhe kdkdksrdsl apgpepqded qkdalpsgga gsslsqgdpd
     1201 aaiwlgdslg smtqksdlss ssgslslshg ssslehrsed stiydllkdp vslrskarra
     1261 kkakassalv vcggqghrrv hrkarqphqe elaptvmvwq ipllni
//
LOCUS       XP_005251859             331 aa            linear   PRI 20-MAR-2023
DEFINITION  Fanconi anemia group C protein isoform X9 [Homo sapiens].
ACCESSION   XP_005251859
VERSION     XP_005251859.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005251802.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..331
                     /product="Fanconi anemia group C protein isoform X9"
                     /calculated_mol_wt=37428
     Region          <1..328
                     /region_name="Fanconi_C"
                     /note="Fanconi anaemia group C protein; pfam02106"
                     /db_xref="CDD:426603"
     CDS             1..331
                     /gene="FANCC"
                     /gene_synonym="FA3; FAC; FACC"
                     /coded_by="XM_005251802.4:409..1404"
                     /db_xref="GeneID:2176"
                     /db_xref="HGNC:HGNC:3584"
                     /db_xref="MIM:613899"
ORIGIN      
        1 mrkkislpms avvclwlrhl pslekamlhl feklissern clrriecfik dsslpqaach
       61 paifrvvdem frcalletdg aleiiatiqv ftqcfveale kaskqlrfal ktyfpytsps
      121 lamvllqdpq diprghwlqt lkhisellre avedqthgsc ggpfeswflf ihfggwaemv
      181 aeqllmsaae pptallwlla fyygprdgrq qraqtmvqvk avlghllams rssslsaqdl
      241 qtvagqgtdt dlrapaqqli rhlllnfllw apgghtiawd vitlmahtae itheiigfld
      301 qtlyrwnrlg iesprsekla rellkelrtq v
//
LOCUS       XP_005252022             440 aa            linear   PRI 20-MAR-2023
DEFINITION  heterogeneous nuclear ribonucleoprotein K isoform X2 [Homo
            sapiens].
ACCESSION   XP_005252022
VERSION     XP_005252022.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005251965.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..440
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..440
                     /product="heterogeneous nuclear ribonucleoprotein K
                     isoform X2"
                     /calculated_mol_wt=48432
     Region          4..43
                     /region_name="ROKNT"
                     /note="ROKNT (NUC014) domain; pfam08067"
                     /db_xref="CDD:429813"
     Region          42..105
                     /region_name="KH-I_HNRNPK_rpt1"
                     /note="first type I K homology (KH) RNA-binding domain
                     found in heterogeneous nuclear ribonucleoprotein K (hnRNP
                     K) and similar proteins; cd22432"
                     /db_xref="CDD:411860"
     Site            order(52,54..56,58..62,65..66,69..70,75..78)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:411860"
     Region          120..189
                     /region_name="KH-I_HNRNPK_rpt2"
                     /note="second type I K homology (KH) RNA-binding domain
                     found in heterogeneous nuclear ribonucleoprotein K (hnRNP
                     K) and similar proteins; cd22433"
                     /db_xref="CDD:411861"
     Site            order(130,132..134,136..140,143..144,147..148,153..156)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:411861"
     Region          363..436
                     /region_name="KH-I_HNRNPK_rpt3"
                     /note="third type I K homology (KH) RNA-binding domain
                     found in heterogeneous nuclear ribonucleoprotein K (hnRNP
                     K) and similar proteins; cd22434"
                     /db_xref="CDD:411862"
     Site            order(376..377,379..383,386..387,390,398..399,401,409,
                     434..435)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411862"
     CDS             1..440
                     /gene="HNRNPK"
                     /gene_synonym="AUKS; CSBP; HNRPK; TUNP"
                     /coded_by="XM_005251965.4:205..1527"
                     /db_xref="GeneID:3190"
                     /db_xref="HGNC:HGNC:5044"
                     /db_xref="MIM:600712"
ORIGIN      
        1 meteqpeetf pntetngefg krpaedmeee qafkrsrntd emvelrillq sknagavigk
       61 ggknikalrt dynasvsvpd ssgperilsi sadietigei lkkiiptlee yqhykgsdfd
      121 celrllihqs laggiigvkg akikelrent qttiklfqec cphstdrvvl iggkpdrvve
      181 cikiildlis espikgraqp ydpnfydety dyggftmmfd drrgrpvgfp mrgrggfdrm
      241 ppgrggrpmp psrrdyddms prrgpppppp grggrggsra rnlplppppp prggdlmayd
      301 rrgrpgdryd gmvgfsadet wdsaidtwsp sewqmayepq ggsgydysya ggrgsygdlg
      361 gpiittqvti pkdlagsiig kggqrikqir hesgasikid eplegsedri ititgtqdqi
      421 qnaqyllqns vkqyadvegf
//
LOCUS       XP_054184989            2640 aa            linear   PRI 20-MAR-2023
DEFINITION  protein unc-79 homolog isoform X22 [Homo sapiens].
ACCESSION   XP_054184989
VERSION     XP_054184989.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329014.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187601.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2640
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12-32.13"
     Protein         1..2640
                     /product="protein unc-79 homolog isoform X22"
                     /calculated_mol_wt=295602
     CDS             1..2640
                     /gene="UNC79"
                     /gene_synonym="KIAA1409"
                     /coded_by="XM_054329014.1:4198..12120"
                     /db_xref="GeneID:57578"
                     /db_xref="HGNC:HGNC:19966"
                     /db_xref="MIM:616884"
ORIGIN      
        1 mtmclfpvpf pltpslrpqv ssinptvtrs llysvlrdap sergpqsrda qlsdypsldy
       61 qglyvtlvtl ldlvpllqhg qhdlgqsify tttcllpfln ddilstlpyt mistlatfpp
      121 flhkdiieyl stsflpmail gssrregvpa hvnlsassml miamqytsnp vyhcqllecl
      181 mkykqevwkd llyviaygps qvkppavqml fhywpnlkpp gaiseyrglq ytawnpihcq
      241 hiechnaink pavkmcidps lsvalgdkpp plylceecse riagdhsewl idvllpqaei
      301 saicqkkncs shvrravvtc fsagccgrhg nrpvryckrc hsnhhsnevg aaaethlyqt
      361 spppintrec gaeelvcave avisllkeae fhaeqrehel nrrrqlglss shhsldnadf
      421 dnkdddkhdq rllsqfgiwf lvslctpsen tpteslarlv amvfqwfhst aymmddevgs
      481 lveklkpqfv tkwlktvcdv rfdvmvmcll pkpmefarvg gywdkscstv tqlkeglnri
      541 lclipynvin qsvwecimpe wleairtevp dnqlkefrev lskmfdielc plpfsmeemf
      601 gfiscrftgy pssvqeqall wlhvlseldi mvplqllism fsdgvnsvke lanqrksrvs
      661 elagnlasrr vsvasdpgrr vqhnmlspfh spfqspfrsp lrspfrspfk nfghpggrti
      721 dfdceddemn lncfilmfdl llkqmelqdd gitmglehsl skdiisiinn vfqapwggsh
      781 tcqkdekaie cnlcqssilc yqlaceller lapkeesrlv eptdsledsl lssrpefiig
      841 pegeeeenpa skhgenpgnc tepvehaavk ndterkfcyq qlpvtlrliy tifqemakfe
      901 epdilfnmln clkilclhge clyiarkdhp qflayiqdhm liaslwrvvk sefsqlssla
      961 vplllhalsl phgadifwti ingnfnskdw kmrfeavekv avicrfldih svtknhllky
     1021 slahafccfl tavedvnpav atragllldt ikrpalqglc lcldfqfdtv vkdrptilsk
     1081 llllhflkqd ipalsweffv nrfetlslea qlhldcnkef pfpttitavr tnvanlsdaa
     1141 lwkikrarfa rnrqksvrsl rdsvkgpves kralslpetl tskipmrltr heqsapalgg
     1201 tpeqtpgqqs pendntikdl lpedagidhq tvhqlitvlm kfmakdessa esdissakaf
     1261 ntvkrhlyvl lgydqqegcf miapqkmrls tcfnafiagi aqvmdyninl gkhllplvvq
     1321 vlkycscpql rhyfqqpprc slwslkphir qmwlkallvi lykypyrdcd iskillhlih
     1381 itvntlnaqy hsckphatag plysdnsnis rysekekeed svfdesdihd tptgpcnkes
     1441 qtffarlkri ggskmvkyqp vemnvqrsei elaeyretga lqdsllhcvr eesipkkklr
     1501 sfkqksldig nadsllftld ehrrkscidr cdiekpptqa ayiaqrpndp grsrqnsatr
     1561 pdnseipenp amegfpdarr pvipevrlnc metfevkvds pvkpapkedl dlidlssdst
     1621 sgpekhsils tsdsdslvfe plpplrives deeeetmnqg ddgpsgknaa sspsvpshps
     1681 vlslstaplv qvsvedcskd fsskdsgnnq sagntdsali tledpmdaeg sskpeelpef
     1741 scgspltlkq krdllqksfa lpemslddhp dpgtegekpg elmpssgakt vllkvpedae
     1801 nptesekpdt saesdteqnp erkveedgae esefkiqivp rqrkqrkiav saiqreyldi
     1861 sfnildklge qkdpdpstkg lstlempres ssaptldagv petsshssis tqyrqmkrgs
     1921 lgvltmsqlm krqlehqssa phnisnwdte qiqpgkrqcn vptclnpdle gqplrmrgat
     1981 kssllsapsi vsmfvpapee ftdeqptvmt dkchdcgail eeydeetlgl aivvlstfih
     2041 lspdlaapll ldimqsvgrl assttfsnqa esmmvpgnaa gvakqflrci fhqlapngif
     2101 pqlfqstikd gtflrtlass lmdfnelssi aalsqllegl nnkknlpagg amirclenia
     2161 tfmealpmds psslwttisn qfqtffaklp cvlplkcsld sslrimicll kipstnatrs
     2221 llepfsklls fviqnavftl aylvelcglc yraftkerdk fylsrsvvle llqalklksp
     2281 lpdtnllllv qficadagtk laestilskq miasvpgcgt aamecvrqyi nevldfmadm
     2341 htltklkshm ktcsqplhed tfgghlkvgl aqiaamdisr gnhrdnkavi rylpwlyhpp
     2401 samqqgpkef iecvshirll swlllgslth navcpnassp clpipldags hvadhlivil
     2461 igfpeqskts vlhmcslfha fifaqlwtvy ceqsavatnl qnqnefsfta iltalefwsr
     2521 vtpsilqlma hnkvmvemvc lhvislmeal qecnstifvk lipmwlpmiq snikhlsagl
     2581 qlrlqaiqnh vnhhslrtlp gsgqssagla alrkwlqctq fkmaqveiqs seaasqfypl
//
LOCUS       XP_054186813             800 aa            linear   PRI 20-MAR-2023
DEFINITION  ral guanine nucleotide dissociation stimulator-like 2 isoform X1
            [Homo sapiens].
ACCESSION   XP_054186813
VERSION     XP_054186813.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330838.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167247.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..800
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..800
                     /product="ral guanine nucleotide dissociation
                     stimulator-like 2 isoform X1"
                     /calculated_mol_wt=85906
     CDS             1..800
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /coded_by="XM_054330838.1:101..2503"
                     /db_xref="GeneID:5863"
                     /db_xref="HGNC:HGNC:9769"
                     /db_xref="MIM:602306"
ORIGIN      
        1 mvvarsrisg lrrgqnldlg prgpkllgpd pspfdstgal rrlgwgclgp sggdlgspap
       61 ptlprtrwyy alppqapvsv wdeeedgavf tvtsrqyrpl dplvpmpppr ssrrlragtl
      121 ealvrhlldt rtsgtdvsfm saflathraf tstpallglm adrlealesh ptdelertte
      181 vaisvlstwl ashpedfgse akgqldrles fllqtgyaag kgvgggsadl irnlrsrvdp
      241 qapdlpkpla lpgdppadpt dvlvfladhl aeqltlldae lflnlipsqc lgglwghrdr
      301 pghshlcpsv ratvtqfnkv agavvssvlg atstgegpge vtirplrppq rarllekwir
      361 vaeecrllrn fssvyavvsa lqsspihrlr aawgeatrds lrvfsslcqi fseednysqs
      421 rellvqevkl qsplephskk aprsgsrggg vvpylgtflk dlvmldaask delengyinf
      481 dkrrkefavl selrrlqnec rgynlqpdhd iqrwlqglrp lteaqshrvs ceveppgssd
      541 ppaprvlrpt lvisqwtevl gsvgvptplv scdrpstggd eapttpapll trlaqhmkwp
      601 svssldsale sspslhspad pshlsppass prpsrghrrs ascgsplsgg aeeasggtgy
      661 ggegsgpgas dcriirvqme lgedgsvyks ilvtsqdkap svisrvlkkn nrdsavasey
      721 elvqllpger eltipasanv fyamdgashd fllrqrrrss tatpgvtsgp sasgtppseg
      781 gggsfprika tgrkiaralf
//
LOCUS       XP_054187190             331 aa            linear   PRI 20-MAR-2023
DEFINITION  retinol dehydrogenase 13 isoform X2 [Homo sapiens].
ACCESSION   XP_054187190
VERSION     XP_054187190.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331215.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571059.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..331
                     /product="retinol dehydrogenase 13 isoform X2"
                     /calculated_mol_wt=35801
     CDS             1..331
                     /gene="RDH13"
                     /gene_synonym="SDR7C3"
                     /coded_by="XM_054331215.1:828..1823"
                     /db_xref="GeneID:112724"
                     /db_xref="HGNC:HGNC:19978"
ORIGIN      
        1 msryllplsa lgtvagaavl lkdyvtggac pskatipgkt vivtgantgi gkqtalelar
       61 rggniilacr dmekceaaak dirgetlnhh vnarhldlas lksirefaak iieeeervdi
      121 linnagvmrc phwttedgfe mqfgvnhlgh flltnllldk lkasapsrii nlsslahvag
      181 hidfddlnwq trkyntkaay cqsklaivlf tkelsrrlqg sgvtvnalhp gvartelgrh
      241 tgihgstfss ttlgpifwll vkspelaaqp stylavaeel advsgkyfdg lkqkapapea
      301 edeevarrlw aesarlvgle apsvreqplp r
//
LOCUS       XP_054189147             217 aa            linear   PRI 20-MAR-2023
DEFINITION  endophilin-A3 isoform X4 [Homo sapiens].
ACCESSION   XP_054189147
VERSION     XP_054189147.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333172.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791797) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..217
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.2"
     Protein         1..217
                     /product="endophilin-A3 isoform X4"
                     /calculated_mol_wt=24546
     CDS             1..217
                     /gene="SH3GL3"
                     /gene_synonym="CNSA3; EEN-B2; HsT19371; SH3D2C; SH3P13"
                     /coded_by="XM_054333172.1:321..974"
                     /db_xref="GeneID:6457"
                     /db_xref="HGNC:HGNC:10832"
                     /db_xref="MIM:603362"
ORIGIN      
        1 mdgifagiic nqanrcltwt sqqlfsekis gaegtkldde fldmerkidv tnkvvaeils
       61 ktteylqpnp ayraklgmln tvskirgqvk ttgypqtegl lgdcmlkygk elgedstfgn
      121 alievgesmk lmaevkdsld invkqtfidp lqllqdkdlk eighhlkkle grrldydykk
      181 krvgkipdee vrqavekfee skelaersmf nflendl
//
LOCUS       XP_054189299             449 aa            linear   PRI 20-MAR-2023
DEFINITION  reduced folate transporter isoform X10 [Homo sapiens].
ACCESSION   XP_054189299
VERSION     XP_054189299.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333324.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791815) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..449
                     /product="reduced folate transporter isoform X10"
                     /calculated_mol_wt=49297
     CDS             1..449
                     /gene="SLC19A1"
                     /gene_synonym="CHMD; FOLT; hRFC; hSLC19A1; IFC-1; IFC1;
                     MEGAF; REFC; RFC; RFC1; RFT-1"
                     /coded_by="XM_054333324.1:151..1500"
                     /db_xref="GeneID:6573"
                     /db_xref="HGNC:HGNC:10937"
                     /db_xref="MIM:600424"
ORIGIN      
        1 mrpqpaepap ggrgneacsi hsevtneitp vlsysylavl vpvflltdyl rytpvlllqg
       61 lsfvsvwlll llghsvahmq lmelfysvtm aariayssyi fslvrparyq rvagysraav
      121 llgvftssvl gqllvtvgrv sfstlnyisl afltfsvvla lflkrpkrsl ffnrddrgrc
      181 etsaselerm npgpggklgh alrvacgdsv larmlrelgd slrrpqlrlw slwwvfnsag
      241 yylvvyyvhi lwnevdpttn sarvyngaad aastllgait sfaagfvkir warwskllia
      301 gvtatqaglv fllahtrhps siwlcyaafv lfrgsyqflv piatfqiass lskelcalvf
      361 gvntffativ ktiitfivsd vrglglpvrk qneelhvasl slwkshlrla adtlssegss
      421 gsgprswfls ptlraalhgp vcpsevcps
//
LOCUS       XP_054189705              33 aa            linear   PRI 20-MAR-2023
DEFINITION  bladder cancer associated transcript 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054189705
VERSION     XP_054189705.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054333730.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..33
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..33
                     /product="bladder cancer associated transcript 1 isoform
                     X1"
                     /calculated_mol_wt=3815
     CDS             1..33
                     /gene="BLACAT1"
                     /gene_synonym="linc-UBC1; LINC00912; onco-lncRNA-30"
                     /coded_by="XM_054333730.1:113..214"
                     /db_xref="GeneID:101669762"
                     /db_xref="HGNC:HGNC:48597"
                     /db_xref="MIM:615480"
ORIGIN      
        1 mpqftfacfc glhgfckmkr kkeevhrere tav
//
LOCUS       XP_054191139            1098 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 6 isoform X44
            [Homo sapiens].
ACCESSION   XP_054191139
VERSION     XP_054191139.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335164.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1098
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1098
                     /product="pleckstrin homology domain-containing family A
                     member 6 isoform X44"
                     /calculated_mol_wt=122668
     CDS             1..1098
                     /gene="PLEKHA6"
                     /gene_synonym="PEPP-3; PEPP3"
                     /coded_by="XM_054335164.1:198..3494"
                     /db_xref="GeneID:22874"
                     /db_xref="HGNC:HGNC:17053"
                     /db_xref="MIM:607771"
ORIGIN      
        1 msnktggkrp attnsdipnh nmvsevpper psvratrtar kaiafgkrsh smkrnpnapv
       61 tkagwlfkqa ssgvkqwnkr wfvlvdrclf yykdekeesi lgsipllsfr vaavqpsdni
      121 srkhtfkvtv cwvdeaeass trclslqaeh agvrtyffsa espeeqeawi qamgeaarvq
      181 ippaqksvpq avrhshekpd senvppskhh qqpphnslpk pepeaktrge gdgrgcekae
      241 rrperpevkk eppvkanglp agpepasepg spypegprvp gggeqpaqpn gwqyhspsrp
      301 gstafpsqdg etgghrrsfp prtnpdkiaq rkssmnqlqq wvnlrrgvpp pedlrspsrf
      361 ypvsrrvpey ygpyssqypd dyqyyppgvr pesicsmpay drisppwale dkrhafrngg
      421 gpayqlrewk epasygrqda tvwipspsrq pvyydeldaa ssslrrlslq prshsvprsp
      481 sqgsysrari yspvrspsar ferlpprsed iyadpaayvm rrsisspkyd ylgdrrpvpa
      541 glfpynypps ptvhdkmvpp ypevfrdslh tyklneqdtd kllgklceqn kvvreqdrlv
      601 qqlraekesl esalmgthqe lemfgsqpay peklrhkkds lqnqlinirv elsqattalt
      661 nstieyehle sevsalhddl weqlnldtqn evlnrqiqke iwriqdvmeg lrknnpsrgt
      721 dtakhrgglg psatyssnsp asplssaslt splspfslvs gsqgsptkpg snepkanyeq
      781 skkdphqtlp ldtprdislv ptrqeveaek qaalnkvgvv pprtksptdd evtpsavvrr
      841 nasgltngls sqqerpksav fpgegkvkms veeqidrmrr hqsgsmrekr rslqlpaspa
      901 pdpsprpayk vvrrhrsihe vdisnleaal raeepgghay etpreeiarl rkmelepqhy
      961 dvdinkelst pdkvlipery idlepdtpls peelkekqkk veriktliak ssmqnvvpig
     1021 egdsvdvpqd sesqlqeqek rieiscalat easrrgrmls vqcatpsppt spaspappan
     1081 plssesprga dssytmrv
//
LOCUS       XP_054191192             595 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclic AMP-dependent transcription factor ATF-6 alpha isoform X3
            [Homo sapiens].
ACCESSION   XP_054191192
VERSION     XP_054191192.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335217.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..595
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..595
                     /product="cyclic AMP-dependent transcription factor ATF-6
                     alpha isoform X3"
                     /calculated_mol_wt=66206
     CDS             1..595
                     /gene="ATF6"
                     /gene_synonym="ACHM7; ATF6A"
                     /coded_by="XM_054335217.1:42..1829"
                     /db_xref="GeneID:22926"
                     /db_xref="HGNC:HGNC:791"
                     /db_xref="MIM:605537"
ORIGIN      
        1 mgepagvagt mespfspglf hrldedwdsa lfaelgyftd tdelqleaan etyennfdnl
       61 dfdldlmpwe sdiwdinnqi ctvkdikaep qplspasssy svssprsvds ysstqhvpee
      121 ldlssssqms plslygensn slssaeplke dkpvtgprnk tengltpkkk iqvnskpsiq
      181 pkplllpaap ktqtnssvpa ktiiiqtvpt lmplakqqpi islqpaptkg qtvllsqptv
      241 vqlqapgvlp saqpvlavag gvtqlpnhvv nvvpapsans pvngklsvtk pvlqstmrnv
      301 gsdiavlrrq qrmiknresa cqsrkkkkey mlglearlka alseneqlkk engtlkrqld
      361 evvsenqrlk vpspkrrvvc vmivlafiil nygpmsmleq dsrrmnpsvs panqrrhllg
      421 fsakeaqdts dgiiqknsys kllrnlryke tnfvhpcfry dhsvsndkal mvlteeplly
      481 ippppcqpli ntteslrlnh elrgwvhrhe vertksrrmt nnqqktrilq galeqgsnsq
      541 lmavqytett ssisrnsgse lqvyyasprs yqdffeairr rgdtfyvvsf rrlsg
//
LOCUS       XP_054191411             767 aa            linear   PRI 20-MAR-2023
DEFINITION  calmodulin-binding transcription activator 1 isoform X18 [Homo
            sapiens].
ACCESSION   XP_054191411
VERSION     XP_054191411.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335436.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..767
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..767
                     /product="calmodulin-binding transcription activator 1
                     isoform X18"
                     /calculated_mol_wt=85735
     CDS             1..767
                     /gene="CAMTA1"
                     /gene_synonym="CANPMR; CECBA"
                     /coded_by="XM_054335436.1:104..2407"
                     /db_xref="GeneID:23261"
                     /db_xref="HGNC:HGNC:18806"
                     /db_xref="MIM:611501"
ORIGIN      
        1 macpvspdhk qegahdtglv tlqvafnnqi isnsvvfeyk aralptlpss qhdwlslddn
       61 qfrmsilerl eqmerrmaem tgsqqhkqas gggssgggsg sgnggsqaqc asgtgalgsc
      121 fesrvvvvce kmmsracwak skhlihsktf rgmtllhlaa aqgyatliqt likwrtkhad
      181 sidlelevdp lnvdhfsctp lmwacalghl eaavvlykwd rraisipdsl grlplgiars
      241 rghvklaecl ehlqrdeqaq lgqnprihcp aseepstesw maqwhseais speipkgvtv
      301 iastnpelrr prsepsnyys seshkdypap kkhklnpeyf qtrqekllpt alsleepnir
      361 kqspsskqsv petlspsegv rdfsrelspp tpetaafqas gsqpvgkwns kdlyigvstv
      421 qvtgnpkgts vgkeaapsqv rprepmsvlm manrevvnte lgsyrdsaen eecgqpmddi
      481 qvnmmtlaeh iieatpdrik qenfvpmess glertdpati sstmswlasy ladadclpsa
      541 aqirsaynep ltpssntsls pvgspvseia fekpnlpsaa dwseflsast sekvenefaq
      601 ltlsdheqre lyeaarlvqt afrkykgrpl reqqevaaav iqrcyrkykq ltwialkyal
      661 ykkmtqaail iqskfrsyye qkkfqqsrra avliqkyyrs ykkcgkrrqa rrtavivqqk
      721 lrsslltkkq dqaarkimrf lrrcrhrvke lkkakeledi qqhplam
//
LOCUS       XP_054194163             749 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase COP1 isoform X7 [Homo sapiens].
ACCESSION   XP_054194163
VERSION     XP_054194163.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338188.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..749
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..749
                     /product="E3 ubiquitin-protein ligase COP1 isoform X7"
                     /calculated_mol_wt=82430
     CDS             1..749
                     /gene="COP1"
                     /gene_synonym="CFAP78; FAP78; RFWD2; RNF200"
                     /coded_by="XM_054338188.1:306..2555"
                     /db_xref="GeneID:64326"
                     /db_xref="HGNC:HGNC:17440"
                     /db_xref="MIM:608067"
ORIGIN      
        1 msgsrqagsg sagtspgssa assvtsasss lssspsppsv avsaaalvsg gvaqaagsgg
       61 lggpvrpvlv apavsgsggg avstglsrhs caarpsagvg gsssslgsgs rkrpllaplc
      121 nglinsyedk sndfvcpicf dmieeaymtk cghsfcykci hqslednnrc pkcnyvvdni
      181 dhlypnflvn elilkqkqrf eekrfkldhs vsstnghrwq ifqdwlgtdq dnldlanvnl
      241 mlellvqkkk qleaeshaaq lqilmeflkv arrnkreqle qiqkelsvle edikrveems
      301 glyspvseds tvpqfeapsp shslefssdm hrifvngili isiidsteys qppgfsgssq
      361 tkkqpwynst lasrrkrlta hfedleqcyf strmsrisdd srtasqldef qeclskftry
      421 nsvrplatls yasdlyngss ivssiefdrd cdyfaiagvt kkikvyeydt viqdavdihy
      481 penemtcnsk isciswssyh knllassdye gtvilwdgft gqrskvyqeh ekrcwsvdfn
      541 lmdpkllasg sddakvklws tnldnsvasi eakanvccvk fspssryhla fgcadhcvhy
      601 ydlrntkqpi mvfkghrkav syakfvsgee ivsastdsql klwnvgkpyc lrsfkghine
      661 knfvglasng dyiacgsenn slylyykgls ktlltfkfdt vksvldkdrk eddtnefvsa
      721 vcwralpdge snvliaansq gtikvlelv
//
LOCUS       XP_054195020             497 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X26
            [Homo sapiens].
ACCESSION   XP_054195020
VERSION     XP_054195020.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339045.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..497
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..497
                     /product="phosphatidylinositol 4-phosphate 5-kinase type-1
                     alpha isoform X26"
                     /calculated_mol_wt=55829
     CDS             1..497
                     /gene="PIP5K1A"
                     /coded_by="XM_054339045.1:446..1939"
                     /db_xref="GeneID:8394"
                     /db_xref="HGNC:HGNC:8994"
                     /db_xref="MIM:603275"
ORIGIN      
        1 masassgpss svgfssfdpa vpsctlssaa sgikrpmase vlearqdsyi slvpyasgmp
       61 ikkighrsvd ssgettykkt tssalkgaiq lgithtvgsl stkperdvlm qdfyvvesif
      121 fpsegsnltp ahhyndfrfk tyapvafryf relfgirpdd ylyslcsepl ielcssgasg
      181 slfyvssdde fiiktvqhke aeflqkllpg yymnlnqnpr tllpkfygly cvqaggknir
      241 ivvmnnllpr svkmhikydl kgstykrras qkerekplpt fkdldflqdi pdglfldadm
      301 ynalcktlqr dclvlqsfki mdysllmsih nidhaqrepl ssetqysvdt rrpapqkaly
      361 stamesiqge arrggtmetd dhmggiparn skgerlllyi giidilqsyr fvkklehswk
      421 alvhdgdtvs vhrpgfyaer fqrfmcntvf kkiplqpwks lklqsqsspi krkasedleq
      481 dsaisviprc qplpqqc
//
LOCUS       XP_054195798            3189 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosome-associated protein 350 isoform X1 [Homo sapiens].
ACCESSION   XP_054195798
VERSION     XP_054195798.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339823.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3189
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3189
                     /product="centrosome-associated protein 350 isoform X1"
                     /calculated_mol_wt=358804
     CDS             1..3189
                     /gene="CEP350"
                     /gene_synonym="CAP350; GM133"
                     /coded_by="XM_054339823.1:211..9780"
                     /db_xref="GeneID:9857"
                     /db_xref="HGNC:HGNC:24238"
                     /db_xref="MIM:617870"
ORIGIN      
        1 mrsskskevp lpnprnsqsk dtvqaditts wdalsqtkaa lrhienklev aptstavcds
       61 vmdtkkssts atrkisrkdg rylddswvna piskstksrk eksrsplrat tlesnvkknn
      121 rvefreplvs yreihgapsn fssshleskh vycvdvneek tesgnwmigs reernirscd
      181 fessqssvin dtvvrflndr paidalqnse clirmgasmr teeempnrtk gsennlklsv
      241 nnmahdtdpk alrltdssps ststsnsqrl dilkrrqhdv kleklkerir kqwehseetn
      301 grgqklghid hpvmvvnvdn svtakvrkva tappapaykg fnpsetkirt pdgkvwqeae
      361 fqnmsrelyr dlalhfaddi sikekpaeks kekkvvkpvr kvqkvaqlss tecrtgsshl
      421 istsswrdgq klvkkilgpa prmepkeqrt assdrggrer taksgghigr aesdprldvl
      481 hrhlqrnser srsksrsenn ikklasslpd nkqeentaln kdflpieirg ilddlqldst
      541 ahtakqdtve lqnqkssapv haprshspvk rkpdkitane dppviskrrh ydtdevrqyi
      601 vrqqeerkrk qneekkaqke ateqknkrlq elyrkqkeaf tkvknvppse psatrrlqet
      661 ysklllektl leepshqhvt qetqakpgyq psgesdkenk vqerppsass ssdmslsepp
      721 qplarkdlme stwmqperls pqvhhsqpqp fagtagslls hllslehvgi lhkdfesilp
      781 trknhnmasr pltftpqpyv tspaaytdal lkpsasqyks kldriealka taaslssrie
      841 seakklagas inygsawnte ydvqqapqed gpwtkavtpp vkddnedvfs ariqkmlgsc
      901 vshatfdddl pgvgnlsefk klpemirpqs aissfrvrsp gpkpqgllaq lckrqtdsss
      961 sdmqacsqdk akislgssid svsegpllse gslseeegdq dgqpllkvae ilkekefcpg
     1021 ernsyepike fqkeaekflp lfghiggtqs kgpweelakg sphsvinift ksyqlygkgf
     1081 edkldrgtst srplnatatp lsgvsyeddf vsspgtgtst ekkstlephs tlspqedhsn
     1141 rksaydpssv dvtsqhssga qsaassrsst sskgkkgkke ktewldsftg nvqnslldee
     1201 kaergshqgk ksgtssklsv kdfeqtldtd stledlsghs vsvssdkgrs qktptsplsp
     1261 ssqkslqfdv agtssersks svmpptitgf kpnapltdln paasrttten mapipgskrf
     1321 spaglhhrma aelsylnaie esvrqlsdve rvrgislaqq esvslaqiik aqqqrherdl
     1381 allklkaeqe alesqrqlee trnkaaqvha eslqqvvqsq revtevlqea tckiaaqqse
     1441 tarlttdaar qicemaeltr thisdavvas gaplailydh qrqhlpdfvk qlrtrtetdr
     1501 kspsvslsqs kegtldskhq kysasydsys essgyknhdr rsssgssrqe spsvpscken
     1561 ekklngekie ssideqvqta addslrsdsv pslpdeketg scsvtqagle llasrdpptl
     1621 asqnagitds tsiateyslk fdesmtedei eeqsfrsllp seshrrfnme krrghhddsd
     1681 eeaspekttl stakelnmpf sggqdsfskf tmemvrqymk eeemraahqs sllrlrekal
     1741 kektkaelaw lehqkkhlrd kgeddkmppl rkkqrglllr lqqekaeikr lqeankaark
     1801 erqlilkqqe eiekirqtti klqeklksag eskldshsdd dtkdnkatsp gptdletrsp
     1861 spisissset ssimqklkkm rsrmdekhcs pvhyffsvft shhwaslsvc fpnlhpkfql
     1921 yiynqlvrfl tkreqklmqr rqhaeellew krrldaeeae irqmekqala awdkelikpk
     1981 tpkkeledqr teqkeiasee espvplyshl nsessipeel gspaveyvps esigqeqpgs
     2041 pdhsilteem icsqelesst spskhslpks ctsvskqess kgshrtggqc hlpikshqhc
     2101 yswsdeslsm tqsettsdqs diegriralk delrkrksvv nqlkkeqkkr qkerlkaqea
     2161 slikqlesyd efikkteael sqdletspta kpqiktlssa sekpkikplt plhrsetakn
     2221 wksltesers rgslesiaeh vdaslsgser svserslsay akrvnewdsr tedfqtpspv
     2281 lrssrkiree sgdslenvpa lhllkelnat srildmsdgk vgesskksei keieytklkk
     2341 skiedafske gksdvllklv leqgdsseil skkdlpldse nvqkdlvgla ienlhkseem
     2401 lkerqsdqdm nhspniqsgk diheqkntke kdlswsehlf apkeipysed fevssfkkei
     2461 saelykddfe vssllslrkd sqscrdkpqp mrsstsgats fgsneeisec lsekslsihs
     2521 nvhsdrllel ksptelmksk ersdveheqq vtespslasv ptadelfdfh igdrvlignv
     2581 qpgilrfkge tsfakgfwag veldkpegnn ngtydgiayf eckekhgifa ppqkishipe
     2641 nfddyvdine dedcysdery qcynqeqndt egpkdrekdv seyfyekslp svndieasvn
     2701 rsrslkietd nvqdisgvle ahvhqqssvd sqisskenkd lisdatekvs iaaeddtldn
     2761 tfseelekqq qfteeednly aeaseklctp lldlltrekn qleaqlkssl neekkskqql
     2821 ekislltdsl lkvfvkdtvn qlqqikktrd ekiqlsnqel lgddqkkvtp qdlsqnveeq
     2881 spsisgcfls seledekeei sspdmcprpe spvfgasgqe elakrlaele lsreflsalg
     2941 ddqdwfdedf glssshkiqk nkaeetivpl maepkrvtqq pcetllavph taeeveilvh
     3001 naaeelwkwk elghdlhsis iptkllgcas kgldiestsk rvykqavfdl tkeifeeifa
     3061 edpnlnqpvw mkpcrinssy frrvknpnnl deiksfiase vlklfslkke pnhktdwqkm
     3121 mkfgrkkrdr vdhilvqelh eeeaqwvnyd edelcvkmql adgifetlik dtidvlnqis
     3181 ekqgrmllv
//
LOCUS       XP_054221344            1727 aa            linear   PRI 20-MAR-2023
DEFINITION  histone acetyltransferase KAT6B isoform X6 [Homo sapiens].
ACCESSION   XP_054221344
VERSION     XP_054221344.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365369.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1727
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1727
                     /product="histone acetyltransferase KAT6B isoform X6"
                     /calculated_mol_wt=193407
     CDS             1..1727
                     /gene="KAT6B"
                     /gene_synonym="GTPTS; MORF; MOZ2; MYST4; qkf; querkopf;
                     ZC2HC6B"
                     /coded_by="XM_054365369.1:972..6155"
                     /db_xref="GeneID:23522"
                     /db_xref="HGNC:HGNC:17582"
                     /db_xref="MIM:605880"
ORIGIN      
        1 mvklanplyt ewileaiqki kkqkqrpsee richavstsh gldkktvseq lelsvqdgsv
       61 lkvtnkglas ykdpdnpgrf ssvkpgtfpk sakgsrgscn dlrnvdwnkl lrraieglee
      121 pngsslknie kylrsqsdlt sttnnpafqq rlrlgakrav nngrllkdgp qyrvnygsld
      181 gkgapqypsa fpsslppvsl lphekdqpra dpipicsfcl gtkesnrekk peellscadc
      241 gssghpsclk fcpelttnvk alrwqcieck tcsacrvqgr nadnmlfcds cdrgfhmecc
      301 dpplsrmpkg mwicqvcrpk kkgrkllhek aaqikrryak pigrpknklk qrllsvtsde
      361 gsmnaftgrg spdteikini kqesadvnvi gnkdvvteed ldvfkqaqel swekiecesg
      421 vedcgrypsv iefgkyeiqt wysspypqey arlpklylce fclkymkskn illrhskkcg
      481 wfhppaneiy rrkdlsvfee klcqqkynvs cimimpqhqr qgfgrflidf syllsrregq
      541 agspekplsd lgrlsylayw ksvileylyh hherhisika isratgmcph diattlqhlh
      601 midkrdgrfv iirreklils hmeklktcsr aneldpdslr wtpilisnaa vseeereaek
      661 eaerlmeqas cwekeeqeil stransrqsp akvqsknkyl hspesrpvtg ergqllelsk
      721 esseeeeeee deeeeeeeee eeedeeeeee eeeeeeeeni qsspprltkp qsvaikrkrp
      781 fvlkkkrgrk rrrinssvtt etisettevl nepfdnsdee rpmpqleptc eieveedgrk
      841 pvlrkafqhq pgkkrqteee egkdnhcfkn adpcrnnmnd dssnlkegsk dnpeplkckq
      901 vwpkgtkrgl skwrqnkerk tgfklnlytp petpmepdeq vtveeqkets egktspspir
      961 ieeevketge allpqeenrr eetcapvspn tspgekpedd likpeeeeee eeeeeeeeee
     1021 eegeeeeggg nvekdpdgak sqekeepeis tekedsarld dheeeeeede epshnedhda
     1081 ddeddshmes aevekeelpr esfkevlenq etfldlnvqp ghsnpevlmd cgvdltascn
     1141 sepkelagdp eavpesdeep ppgeqaqkqd qknskevdte fkegnpatme idsetvqavq
     1201 sltqesseqd dtfqdcaetq eacrslqnyt radqspqiat tlddcqqsdh sspvssvhsh
     1261 pgqsvrsvns psvpalensy aqispdqsai svpslqnmet spmmdvpsvs dhsqqvvdsg
     1321 fsdlgsiest tenyenpssy dstmggsicg ngssqnscsy snltsssltq sscavtqqms
     1381 nisgscsmlq qtsisspptc svkspqgcvv erppsssqql aqcsmaanft ppmqlaeipe
     1441 tsnaniglye rmgqsdfgag hypqpsatfs laklqqltnt lidhslpysh saavtsyans
     1501 aslstplsnt glvqlsqsph svpggpqaqa tmtpppnltp ppmnlpppll qrnmaasnig
     1561 ishsqrlqtq iaskghismr tksaslspaa athqsqiygr sqtvamqgpa rtltmqrgmn
     1621 msvnlmpapa ynvnsvnmnm ntlnamngys msqpmmnsgy hsnhgymnqt pqypmqmqmg
     1681 mmgtqpyaqq pmqtpphgnm mytapghhgy mntgmskqsl ngsymrr
//
LOCUS       XP_054223168             438 aa            linear   PRI 20-MAR-2023
DEFINITION  glycylpeptide N-tetradecanoyltransferase 2 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054223168
VERSION     XP_054223168.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367193.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..438
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..438
                     /product="glycylpeptide N-tetradecanoyltransferase 2
                     isoform X4"
                     /calculated_mol_wt=50153
     CDS             1..438
                     /gene="NMT2"
                     /coded_by="XM_054367193.1:82..1398"
                     /db_xref="GeneID:9397"
                     /db_xref="HGNC:HGNC:7858"
                     /db_xref="MIM:603801"
ORIGIN      
        1 maedsesaas qqslelddqd tcgidgdnee etehakgspg gylgakkkkk kqkrkkekpn
       61 sggtksdsas dsqeikiqqp sknpsvpmqk lqdiqramel lsacqgparn ideaakhryq
      121 fwdtqpvpkl devitshgai epdkdnvrqe pyslpqgfmw dtldlsdaev lkelytllne
      181 nyvedddnmf rfdyspefll walrppgwll qwhcgvrvss nkklvgfisa ipaniriydr
      241 ywhrslnprk lvevkfshls rnmtlqrtmk lyrlpdvtkt sglrpmepkd iksvrelint
      301 ylkqfhlapv mdeeevahwf lprehiidtf vvespngklt dflsfytlps tvmhhpahks
      361 lkaaysfyni htetplldlm sdalilaksk gfdvfnaldl menktflekl kfgigdgnlq
      421 yylynwrcpg tdsekkvc
//
LOCUS       XP_054223908             242 aa            linear   PRI 20-MAR-2023
DEFINITION  UDP-N-acetylglucosamine--dolichyl-phosphate
            N-acetylglucosaminephosphotransferase isoform X6 [Homo sapiens].
ACCESSION   XP_054223908
VERSION     XP_054223908.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367933.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..242
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..242
                     /product="UDP-N-acetylglucosamine--dolichyl-phosphate
                     N-acetylglucosaminephosphotransferase isoform X6"
                     /calculated_mol_wt=26848
     CDS             1..242
                     /gene="DPAGT1"
                     /gene_synonym="ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2;
                     D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT"
                     /coded_by="XM_054367933.1:199..927"
                     /db_xref="GeneID:1798"
                     /db_xref="HGNC:HGNC:2995"
                     /db_xref="MIM:191350"
ORIGIN      
        1 mwafselpmp llinlivsll gfvatvtlip afrghfiaar lcgqdlnkts rqqipesqgv
       61 isgavfliil fcfipfpfln cfvkeqckaf phhefvalig allaiccmif lgfaddvlnl
      121 rwrhklllpt aaslpllmvy ftnfgnttiv vpkpfrpilg lhldlgilyy vymgllavfc
      181 tnainilagi ngleagqslv isasiivfnl velegdcrdd hvfslyfmip fffttlglly
      241 hn
//
LOCUS       XP_054226110             254 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA 2'-phosphotransferase 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054226110
VERSION     XP_054226110.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370135.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..254
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..254
                     /product="tRNA 2'-phosphotransferase 1 isoform X1"
                     /calculated_mol_wt=27682
     CDS             1..254
                     /gene="TRPT1"
                     /coded_by="XM_054370135.1:57..821"
                     /db_xref="GeneID:83707"
                     /db_xref="HGNC:HGNC:20316"
                     /db_xref="MIM:610470"
ORIGIN      
        1 mnfsgggrqe aagsrgrrap rpreqdrdvq lskalsyalr hgalklglpm gadgfvplgt
       61 llqlpqfrgf saedvqrvvd tnrkqrfalq lgdpstglli ranqghslqv pklelmplet
      121 pqalppmlvh gtfwkhwpsi llkglscqgr thihlapglp gdpgiisgmr shceiavfid
      181 gplalaadgi pffrsangvi ltpgntdgfl lpkyfkealq lrptrkplsl agdeetecqs
      241 spkhssrerr riqq
//
LOCUS       XP_054227452            1162 aa            linear   PRI 20-MAR-2023
DEFINITION  protein MON2 homolog isoform X7 [Homo sapiens].
ACCESSION   XP_054227452
VERSION     XP_054227452.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371477.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1162
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1162
                     /product="protein MON2 homolog isoform X7"
                     /calculated_mol_wt=128857
     CDS             1..1162
                     /gene="MON2"
                     /coded_by="XM_054371477.1:137..3625"
                     /db_xref="GeneID:23041"
                     /db_xref="HGNC:HGNC:29177"
                     /db_xref="MIM:616822"
ORIGIN      
        1 mpagvvfllh shsflmpdea atenilkael tmaalcgrlg lvtsrdafit aickgslpph
       61 yaltvlnttt aatlsnksys vqgqsvmmis psseshqqvv avgqplavqp qgtvmltskn
      121 iqcmrtllnl ahchgavlgt swqlvlatlq hlvwilglkp ssggalkpgr avegpstvlt
      181 tavmtdlpvi snilsrlfes sqylddvslh hlinalcsls leamdmaygn nkepslfava
      241 klletglvnm hrieilwrpl tghllekvcq hpnsrmrewg aealtslika gltfnhdppl
      301 sqnqrlqlll lnplkemsni nhpdirlkql ecvlqilqsq gdslgpgwpl vlgvmgairn
      361 dqgeslirta fqclqlvvtd flptmpctcl qivvdvagsf glhnqelnis ltsigllwni
      421 sdyffqrget iekelnkeea aqqkqaeekg vvlnrpfhpa ppfdclwlcl yaklgelcvd
      481 prpavrksag qtlfstigah gtllqhstwh tviwkvlfhl ldrvresstt adkekiesgg
      541 gnilihhsrd taekqwaetw vltlagvari fntrryllqp lgdfsrawdv lldhiqsaal
      601 sknnevslaa lksfqeilqi vspvrdsdkp etppvvnvpv pvligpisgm srpfvrtdsi
      661 geklgrysss eppivtdele dlnlwwaawn twyrigsest kppitfdklt fipsqpflta
      721 liqifpalyq hiktgfnmdd lqklgvilhs aisvpissda spfilpsyte avltslqeav
      781 ltaldvlqka icvgpenmqi mypaifdqll afvefsckpp qygqletkhi anakynqiql
      841 fapaewvaln yvpfaersle vvvdlyqkta chkavvnekv lqniiktlrv plslkyscps
      901 estwklavss llrvlsiglp varqhassgk fdsmwpelan tfedflftks ippdnlsiqe
      961 fqrnenidve vvqlisneil pyanfipkef vgqimtmlnk gsihsqsssf teaeidirlr
     1021 eefskmcfet llqfsfsnkv ttpqegyisr malsvllkrs qdvlhryied erlsgkcplp
     1081 rqqvteiifv lkavstlids lkktqpenvd gntwaqvial yptlvecitc sssevcsalk
     1141 ealvpfkdfm qppasrvqng es
//
LOCUS       XP_054228459             635 aa            linear   PRI 20-MAR-2023
DEFINITION  vezatin isoform X11 [Homo sapiens].
ACCESSION   XP_054228459
VERSION     XP_054228459.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372484.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..635
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..635
                     /product="vezatin isoform X11"
                     /calculated_mol_wt=72296
     CDS             1..635
                     /gene="VEZT"
                     /gene_synonym="VEZATIN"
                     /coded_by="XM_054372484.1:1049..2956"
                     /db_xref="GeneID:55591"
                     /db_xref="HGNC:HGNC:18258"
                     /db_xref="MIM:619749"
ORIGIN      
        1 mlfafisllv mlptwwivss wlvwgvilfv ylviralrlw rtaklqvtlk kysvhledma
       61 tnsraftnlv rkalrliqet evisrgftll ldrvsaacpf nkagqhpsqh liglrkavyr
      121 tlranfqaar latlymlkny plnsesdnvt nyicvvpfke lglglseeqi seeeahnftd
      181 gfslpalkvl fqlwvaqsse ffrrlallls tansppgpll tpallphril sdvtqglpha
      241 hsacleelkr syefyryfet qhqsvpqcls ktqqksreln nvhtavrslq lhlkallnev
      301 iiledelekl vctketqelv seaypileqk lkliqphvqa snncweeais qvdkllrrnt
      361 dkkgkpeiac enphctvvpl kqptlhiadk dpipeeqele ayvddidids dfrkddfyyl
      421 sqedkerqkr eheeskrvlq elksvlgfka seaerqkwkq llfsdhavlk slspvdpvep
      481 isnsepsmns dmgkvskndt eeesnksatt dneisrteyl censlegknk dnssnevfpq
      541 gaeermcyqc esedepqadg sglttapptp rdslqpsikq rlarlqlspd ftftaglaae
      601 vaarslsftt mqeqtfgdee eeqiieenkn eieek
//
LOCUS       XP_054232040             699 aa            linear   PRI 20-MAR-2023
DEFINITION  MAP/microtubule affinity-regulating kinase 3 isoform X14 [Homo
            sapiens].
ACCESSION   XP_054232040
VERSION     XP_054232040.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376065.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..699
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..699
                     /product="MAP/microtubule affinity-regulating kinase 3
                     isoform X14"
                     /calculated_mol_wt=78248
     CDS             1..699
                     /gene="MARK3"
                     /gene_synonym="CTAK1; KP78; Par-1a; PAR1A; VIPB"
                     /coded_by="XM_054376065.1:100..2199"
                     /db_xref="GeneID:4140"
                     /db_xref="HGNC:HGNC:6897"
                     /db_xref="MIM:602678"
ORIGIN      
        1 mwehtshgdg rqevtsrtsr sgarcrnsia scadeqphig nyrllktigk gnfakvklar
       61 hiltgrevai kiidktqlnp tslqklfrev rimkilnhpn ivklfeviet ektlylimey
      121 asggevfdyl vahgrmkeke arskfrqivs avqychqkri vhrdlkaenl lldadmniki
      181 adfgfsneft vggkldtfcg sppyaapelf qgkkydgpev dvwslgvily tlvsgslpfd
      241 gqnlkelrer vlrgkyripf ymstdcenll krflvlnpik rgtleqimkd rwinagheed
      301 elkpfvepel disdqkridi mvgmgysqee iqeslskmky deitatylll grkssevrps
      361 sdlnnstgqs phhkvqrsvs ssqkqrrysd hagpaipsvv aypkrsqtst adsdlkedgi
      421 ssrkssgsav ggkgiapasp mlgnasnpnk adiperkkss tvpssntasg gmtrrntyvc
      481 serttadrhs viqngkenst ipdqrtpvas thsissaatp drirfprgta srstfhgqpr
      541 errtatyngp paspslshea tplsqtrsrg stnlfsklts kltrsrnvsa eqkdenkeak
      601 prslrftwsm kttssmdpgd mmreirkvld anncdyeqre rfllfcvhgd ghaenlvqwe
      661 mevcklprls lngvrfkris gtsiafknia skianelkl
//
LOCUS       XP_054234180            1124 aa            linear   PRI 20-MAR-2023
DEFINITION  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2
            isoform X17 [Homo sapiens].
ACCESSION   XP_054234180
VERSION     XP_054234180.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378205.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1124
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1124
                     /product="1-phosphatidylinositol 4,5-bisphosphate
                     phosphodiesterase beta-2 isoform X17"
                     /calculated_mol_wt=126969
     CDS             1..1124
                     /gene="PLCB2"
                     /gene_synonym="PLC-beta-2"
                     /coded_by="XM_054378205.1:264..3638"
                     /db_xref="GeneID:5330"
                     /db_xref="HGNC:HGNC:9055"
                     /db_xref="MIM:604114"
ORIGIN      
        1 msllnpvllp pkvkaylsqg erfikwddet tvaspvilrv dpkgyylywt yqskemefld
       61 itsirdtrfg kfakmpksqk lrdvfnmdfp dnsfllktlt vvsgpdmvdl tfhnfvsyke
      121 nvgkawaedv lalvkhplta nasrstfldk ilvklkmqln segkipvknf fqmfpadrkr
      181 veaalsachl pkgkndainp edfpepvyks flmslcprpe ideiftsyha kakpymtkeh
      241 ltkfinqkqr dsrlnsllfp parpdqvqgl idkyepsgin aqrgqlspeg mvwflcgpen
      301 svlaqdklll hhdmtqplnh yfinsshnty ltagqfsgls saemyrqvll sgcrcveldc
      361 wkgkppdeep iithgftmtt diffkeaiea iaesafktsp ypiilsfenh vdsprqqakm
      421 aeycrtifgd mllteplekf plkpgvplps pedlrgkili knkknqfsgp tssskdtgge
      481 aegssppsap agegtvwage egteleeeev eeeeeeesgn ldeeeikkmq sdegtaglev
      541 tayeemsslv nyiqptkfvs fefsaqknrs yvissftelk aydllskasv qfvdynkrqm
      601 sriypkgtrm dssnympqmf wnagcqmval nfqtmdlpmq qnmavfefng qsgyllkhef
      661 mrrpdkqfnp fsvdridvvv attlsitvis gqflsersvr tyvevelfgl pgdpkrryrt
      721 klspstnsin pvwkeepfvf ekilmpelas lrvavmeegn kflghriipi nalnsgyhhl
      781 clhsesnmpl tmpalfifle mkdyipgawa dltvalanpi kffsahdtks vklkeamggl
      841 pekpfplasp vasqvngala ptsngspaar agareeamke aaeprtasle elrelkgvvk
      901 lqrrhekelr elerrgarrw eellqrgaaq laelgppgvg gvgacklgpg kgsrkkrslp
      961 reesagaapg egpegvdgrv relkdrlele llrqgeeqye cvlkrkeqhv aeqiskmmel
     1021 arekqaaelk alketsendt kemkkkletk rleriqgmtk vttdkmaqer lkreinnshi
     1081 qevvqvikqm tenlerhqek leekqaacle qiremekqpd pahp
//
LOCUS       XP_054170538             314 aa            linear   PRI 20-MAR-2023
DEFINITION  C-type lectin domain family 18 member C-like [Homo sapiens].
ACCESSION   XP_054170538
VERSION     XP_054170538.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314563.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 6% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..314
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..314
                     /product="C-type lectin domain family 18 member C-like"
                     /calculated_mol_wt=34997
     CDS             1..314
                     /gene="LOC128966615"
                     /coded_by="XM_054314563.1:1..945"
                     /db_xref="GeneID:128966615"
ORIGIN      
        1 mfqsffgysp ppinnlpsfq lvwatssqlg cgrhlcsagq avieafvcay spggnwevng
       61 ktivpykkga wcslctasvs gcfkawdhag glcevprnpc rmscqnhgrl nistchchcp
      121 pgytgrycqv rcslqcvhgr freeecscvc digyggaqca tkvhfpfhtc dlridgdcfm
      181 vsseadtyyr armkcqrkgg vlaqiksqkv qdilafylgr lettnevtds dfetrnfwig
      241 ltyktakdsf rwatgehqaf tsfafgqpdn hgfgncvelq asaafnwnnq rcktrnryic
      301 qfaqehisrw gpgs
//
LOCUS       XP_054174012             989 aa            linear   PRI 20-MAR-2023
DEFINITION  protein moonraker isoform X1 [Homo sapiens].
ACCESSION   XP_054174012
VERSION     XP_054174012.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318037.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..989
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..989
                     /product="protein moonraker isoform X1"
                     /calculated_mol_wt=111894
     CDS             1..989
                     /gene="KIAA0753"
                     /gene_synonym="JBTS38; MNR; OFIP; SRTD21"
                     /coded_by="XM_054318037.1:540..3509"
                     /db_xref="GeneID:9851"
                     /db_xref="HGNC:HGNC:29110"
                     /db_xref="MIM:617112"
ORIGIN      
        1 mgpgqpastc vhlaprtqld grsdpkvlqt qnqlqfnrnv pthssnlair yscphairie
       61 klkhsynesy hckdadcrvg pdlgssvsfs visqerlsya vhlarrdvkr rqfekhikeh
      121 hlrsqpqssq kcghtkykip dhrverkesk sqaacqcshq pskveisssg akvylysshp
      181 gqsdltvpns ppthdpglqp hprigdhkni seqksllevq rlqkelssci hkieevtkkd
      241 rleealdpde erririrrqe qaarsarmly vlqqqvkeiq eeldklsphk ikhtkkswam
      301 sklaaahrga iralqmfvtq ftdrgehplp arckelgsli rqlslcsvkl dadpsvpdvv
      361 idilqqieal eslldkklsp kkvkkcfsei rsrfpigsqk alerwpstsp kgerrpltak
      421 dtfpqetsrp svakqlladk yqpntelpet qrlqseldvl dadivpeegp fildqsasfk
      481 devlavaktk agkkkpvten vpfrkkdtla parqqglrka ergrqsqphs ksrvqqttvs
      541 srlkmnrqpv kdrkapwipp nptsplaspk caawlkvkts prdatkeplq qedpqeeshl
      601 tgaveheaar lawldaetsk rlkeleelka keidsmqkqr ldwldaetsr rtkelnelka
      661 eemyrlqqls vsathladkv eeavldrlkp llvkaqrvns tteanihlkd gssvntakaq
      721 paqevseqke igmklhwpsd lrgrkkvaav dfesnnirql ddfledcase lwavthakil
      781 gsetlatved skdspdleim mrrmeemeky qesvrqrynk iayadprlwm qeenndqkis
      841 aisekplsph piritktvdr kdpavnimle rpcngnslde svgteegsek reapllslae
      901 dsqqkegrap lfvppgmrhs igdycsrfeq ylriisheav gsfnpwliae sfseelvdea
      961 lgavaaelqd mcedyaeavf tsefleaat
//
LOCUS       XP_054176680             138 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 493 isoform X4 [Homo sapiens].
ACCESSION   XP_054176680
VERSION     XP_054176680.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320705.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..138
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..138
                     /product="zinc finger protein 493 isoform X4"
                     /calculated_mol_wt=15489
     CDS             1..138
                     /gene="ZNF493"
                     /coded_by="XM_054320705.1:106..522"
                     /db_xref="GeneID:284443"
                     /db_xref="HGNC:HGNC:23708"
ORIGIN      
        1 mpgppesldm gpltfrdvai efsleewqcl dtaqqdlyrk vmlenyrnlv flgiavskpd
       61 lvtcleqgkd pwnmkghstv vkppggvslc rpgwsvqwnn lgslqppppg ftsfsclslp
      121 sswdyrrlqp rlanflyf
//
LOCUS       XP_054178162             449 aa            linear   PRI 20-MAR-2023
DEFINITION  transducin-like enhancer protein 6 isoform X2 [Homo sapiens].
ACCESSION   XP_054178162
VERSION     XP_054178162.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322187.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..449
                     /product="transducin-like enhancer protein 6 isoform X2"
                     /calculated_mol_wt=49696
     CDS             1..449
                     /gene="TLE6"
                     /gene_synonym="GRG6; PREMBL"
                     /coded_by="XM_054322187.1:698..2047"
                     /db_xref="GeneID:79816"
                     /db_xref="HGNC:HGNC:30788"
                     /db_xref="MIM:612399"
ORIGIN      
        1 matrssdwlr rplgednqpe tqlfwdkepw fwhdtlteql wrifagvhde kakprdrqqa
       61 pglgqeskap gscdpgtdpc pedastprpp easssppegs qdrntswgvv qeppgrasrf
      121 lqsiswdped fedawkrpda lpgqskrlav pcklekmril ahgelvlata issftrhvft
      181 cgrrgikvws ltgqvaedrf peshlpiqtp gaflrtclls snsrslltgg ynlasvsvwd
      241 laapslhvke qlpcaglncq aldanldanl afasftsgvv riwdlrdqsv vrdlkgypdg
      301 vksivvkgyn iwtggpdacl rcwdqrtimk pleyqfksqi mslshspqed wvllgmangq
      361 qwlqstsgsq rhmvgqkdsv ilsvkfspfg qwwasvgmdd flgvysmpag tkvfevpems
      421 pvtccdvssn nrlvvtgsge hasvyqity
//
LOCUS       XP_054197510             172 aa            linear   PRI 20-MAR-2023
DEFINITION  galectin-related protein isoform X1 [Homo sapiens].
ACCESSION   XP_054197510
VERSION     XP_054197510.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341535.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..172
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..172
                     /product="galectin-related protein isoform X1"
                     /calculated_mol_wt=18855
     CDS             1..172
                     /gene="LGALSL"
                     /gene_synonym="GRP; HSPC159"
                     /coded_by="XM_054341535.1:930..1448"
                     /db_xref="GeneID:29094"
                     /db_xref="HGNC:HGNC:25012"
                     /db_xref="MIM:617902"
ORIGIN      
        1 magsvadsda vvklddghln nslsspvqad vyfprlivpf cghikggmrp gkkvlvmgiv
       61 dlnpesfais ltcgdsedpp advaielkav ftdrqllrns cisgergeeq saipyfpfip
      121 dqpfrveilc ehprfrvfvd ghqlfdfyhr iqtlsaidti kingdlqitk lg
//
LOCUS       XP_054198831            2137 aa            linear   PRI 20-MAR-2023
DEFINITION  dedicator of cytokinesis protein 10 isoform X15 [Homo sapiens].
ACCESSION   XP_054198831
VERSION     XP_054198831.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342856.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2137
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2137
                     /product="dedicator of cytokinesis protein 10 isoform X15"
                     /calculated_mol_wt=243507
     CDS             1..2137
                     /gene="DOCK10"
                     /gene_synonym="DRIP2; Nbla10300; ZIZ3"
                     /coded_by="XM_054342856.1:95..6508"
                     /db_xref="GeneID:55619"
                     /db_xref="HGNC:HGNC:23479"
                     /db_xref="MIM:611518"
ORIGIN      
        1 magertrrft rsllrpgqaa elrhsaasaa avavssrqqq rqekprllep ldyetvieel
       61 ektyrndplq dllffpsddf saatvswdir tlystvpeda ehkaenllvk eackfyssqw
      121 hvvnykyeqy sgdirqlpra eykpeklpsh sfeidhedad kdedttshss skggggaggt
      181 gvfksgwlyk gnfnstvnnt vtvrsfkkry fqltqlpdns yimnfykdek iskepkgcif
      241 ldsctgvvqn nrlrkyafel kmndltyfvl aaetesdmde wihtlnrilq ispegplqgr
      301 rsteltdlgl dsldnsvtce ctpeetdsse nnlhadfaky ltetedtvkt trnmerlnlf
      361 sldpdidtlk lqkkdllepe svikpfeeka akrimiicka lnsnlqgcvt enendpitni
      421 epffvsvaly dlrdsrkisa dfhvdlnhaa vrqmllgasv alengnidti tprqseephi
      481 kglpeewlkf pkqavfsvsn phseivlvak iekvlmgnia sgaepyiknp dsnkyaqkil
      541 ksnrqfcskl gkyrmpfawa vrsvfkdnqg nvdrdsrfsp lfrqesskis tedlvklvsd
      601 yrradriskm qtipgsldia vdnvplehpn cvtssfipvk pfnmmaqtep tveveefvyd
      661 stkycrpyrv yknqiyiypk hlkydsqkcf nkarnitvci efknsdeesa kplkciygkp
      721 ggplftsaay tavlhhsqnp dfsdevkiel ptqlhekhhi lfsfyhvtcd inakanakkk
      781 ealetsvgya wlplmkhdqi asqeynipia tslppnylsf qdsasgkhgg sdikwvdggk
      841 plfkvstfvv stvntqdphv naffqecqkr ekdmsqspts nfirscknll nvekihaims
      901 flpiilnqlf kvlvqneede itttvtrvlt divakcheeq ldhsvqsyik fvfktracke
      961 rtvheelakn vtgllksnds ttvkhvlkhs wfffaiilks maqhlidtnk iqrcftfmdr
     1021 gyvfkmvnny ismfssgdlk tlcqykfdfl qevcqhehfi plclpirsan ipdpltpses
     1081 tqelhasdmp eysvtnefcr khfligillr evgfalqedq dvrhlalavl knlmakhsfd
     1141 dryreprkqa qiaslymply gmlldnmpri ylkdlypftv ntsnqgsrdd lstnggfqsq
     1201 taikhansvd tsfskdvlns iaafssiais tvnhadsras lasldsnpst nekssektdn
     1261 cekiprplsl igstlrfdkl dqaetrsllm cflhimktis yetliaywqr apspevsdff
     1321 sildvclqnf rylgkrniir kiaaafkfvq stqnngtlkg snpscqtsgl lsqwmhstss
     1381 heghkqhrsq tlpiirgkna lsnpkllqml dntmtsnsne idivhhvdte aniatevclt
     1441 ildllslftq thqrqlqqcd cqnslmkrvf dtymlffqvn qsatalkhvf aslrlfvckf
     1501 psaffqgpad lcgsfcyevl kccnhrsrst qteasallyf fmrknfefnk qksivrshlq
     1561 likavsqlia dagiggsrfq hslaitnnfa ngdkqmknsn fpaevkdltk rirtvlmata
     1621 qmkehekdpe mlvdlqysla nsyastpelr rtwlesmaki harngdlsea amcyihiaal
     1681 iaeylkrkgy wkvekictas llsedthpcd snsllttpsg gsmfsmgwpa flsitpnike
     1741 egamkedsgm qdtpynenil veqlymcvef lwkseryeli advnkpiiav fekqrdfkkl
     1801 sdlyydihrs ylkvaevvns ekrlfgryyr vafygqgffe eeegkeyiyk epkltglsei
     1861 sqrllklyad kfgadnvkii qdsnkvnpkd ldpkyayiqv tyvtpffeek eiedrktdfe
     1921 mhhninrfvf etpftlsgkk hggvaeqckr rtilttshlf pyvkkriqvi sqsstelnpi
     1981 evaidemskk vselnqlctm eevdmirlql klqgsvsvkv nagpmayara fleetnakky
     2041 pdnqvkllke ifrqfadacg qaldvnerli kedqleyqee lrshykdmls elstvmneqi
     2101 tgrddlskrg vdqtctrvis katpalptvs isssaev
//
LOCUS       XP_054199144            4803 aa            linear   PRI 20-MAR-2023
DEFINITION  baculoviral IAP repeat-containing protein 6 isoform X41 [Homo
            sapiens].
ACCESSION   XP_054199144
VERSION     XP_054199144.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343169.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4803
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..4803
                     /product="baculoviral IAP repeat-containing protein 6
                     isoform X41"
                     /calculated_mol_wt=524061
     CDS             1..4803
                     /gene="BIRC6"
                     /gene_synonym="APOLLON; BRUCE"
                     /coded_by="XM_054343169.1:140..14551"
                     /db_xref="GeneID:57448"
                     /db_xref="HGNC:HGNC:13516"
                     /db_xref="MIM:605638"
ORIGIN      
        1 mvtgggaapp gtvteplpsv ivlsagrkma aaaaaasgpg cssaagagaa gvsewlvlrd
       61 gcmhcdadgl hslsyhpaln ailavtsrgt ikvidgtsga tlqasalsak pggqvkcqyi
      121 savdkvifvd dyavgcrkdl ngillldtal qtpvskqddv vqlelpvtea qqllsaclek
      181 vdisstegyd lfitqlkdgl kntshetaan hkvakwatvt fhlphhvlks iasaivnelk
      241 kinqnvaalp vassvmdrls yllpsarpel gvgpgrsvdr slmyseanrr etftswphvg
      301 yrwaqpdpma qagfyhqpas sgddramcft csvclvcwep tdepwseher hspncpfvkg
      361 ehtqnvplsv tlatspaqfp ctdgtdrisc fgsgscphfl aaatkrgkic iwdvsklmkv
      421 hlkfeinayd paivqqlils gdpssgvdsr rptlawleds sscsdipkle gdsddlleds
      481 dseehsrsds vtghtsqkea mevsldital silqqpeklq weivanvled tvkdleelga
      541 npcltnskse ktkekhqeqh nipfpcllag glltykspat spissnshrs ldglsrtqge
      601 siseqgstdn esctnselns plvrrtlpvl llysikesde kagkifsqmn nimskslhdd
      661 gftvpqiiem eldsqeqlll qdppvtyiqq fadaaanlts pdsekwnsvf pkpgtlvqcl
      721 rlpkfaeeen lcidsitpca dgihllvglr tcpveslsai nqvealnnln klnsalcnrr
      781 kgelesnlav vnganisviq hespadvqtp liiqpeqrnv sggylvlykm nyatrivtle
      841 eepikiqhik dpqdtitsli llppdildnr eddceepied mqltskngfe rektsdistl
      901 ghlvittqgg yvkildlsnf eilakveppk kegteeqdtf vsviycsgtd rlcactkgge
      961 lhflqiggtc ddideadilv dgslskgiep ssegskplsn psspgisgvd llvdqpftle
     1021 iltslveltr fetltprfsa tvppcwvevq qeqqqrrhpq hlhqqhhgda aqhtrtwklq
     1081 tdsnswdehv felvlpkacm vghvdfkfvl nsnitnipqi qvtllknkap glgkvnglrl
     1141 cpfledhked ilcgpvwlas gldlsghagm ltltspklvk gmaggkyrsf lihvkavner
     1201 gteeicnggm rpvvrlpslk hqsnkgysla sllakvaagk ekssnvknen tsgtrksenl
     1261 rgcdllqevs vtirrfkkts iskervqrca mlqfsefhek llntlcrktd dgqitehaqs
     1321 lvldtlcwla gvhsngpgss kegnenllsk trkflsdivr vcffeagrsi ahkcarflal
     1381 cisngkcdpc qpafgpvllk alldnmsflp aattggsvyw yfvllnyvkd edlagcstac
     1441 aslltavsrq lqdrltpmea llqtryglys spfdpvlfdl emsgsscknv ynssigvqsd
     1501 eidlsdvlsg ngkvssctaa egsftsltgl leveplhftc vstsdgtrie rddamssfgv
     1561 tpavgglssg tvgeastals saaqkaklea klhqttaaaa aaasavgpvh nsvpsnpvaa
     1621 pgffihpsdv ipptpkttpl fmtppltppn eavsvvinae laqlfpgsvi dppavnlaah
     1681 nknsnksrmn plgsglalai shashflqpp phqsiiierm hsgarrfvtl dfgrpilltd
     1741 vliptcgdla slsidiwtlg eevdgrrlvv atdisthsli lhdlipppvc rfmkitvigr
     1801 ygstnaraki plgfyyghty ilpweselkl mhdplkgege sanqpeidqh lammvalqed
     1861 iqcrynlach rletllqsid lpplnsanna qyflrkpdka veedsrvfsa yqdciqlqlq
     1921 lnlahnavqr lkvalgasrk mlsetsnped liqtssteql rtiirylldt llsllhasng
     1981 hsvpavlqst fhaqaceelf khlcisgtpk irlhtglllv qlcggerwwg qflsnvlqel
     2041 ynseqllifp qdrvfmllsc igqrslsnsg vlesllnlld nllsplqpql pmhrrtegvl
     2101 dipmiswvvm lvsrlldyva tvedeaaaak kplngkdrer fltgnqwsfi nnnlhtqsln
     2161 rsskgsssld rlysrkirkq lvhhkqqlnl lkakqkalve qmekekiqsn kgssykllve
     2221 qaklkqatsk hfkdlirlrr taewsrsnld tevttakesp eieplpftla hercisvvqk
     2281 lvlfllsmdf tchadlllfv ckvlariana trptihlcei vnepqlerll lllvgtdfnr
     2341 gdiswggawa qysltcmlqd ilagellapv aaeameegtv gddvgatagd sddslqqssv
     2401 qlletidepl thditgappl sslekdkeid lellqdlmev didpldidle kdplaakvfk
     2461 pisstwydyw gadygtynyn pyigglgipv akppantekn gsqtvsvsvs qaldarlevg
     2521 leqqaelmlk mmstleadsi lqaltntspt lsqsptgtdd sllgglqaan qtsqliiqls
     2581 svpmlnvcfn klfsmlqvhh vqlesllqlw ltlslnssst gnkengadif lynanripvi
     2641 slnqasitsf ltvlawypnt llrtwclvlh sltlmtnmql nsgsssaigt qestahllvs
     2701 dpnlihvlvk flsgtsphgt nqhspqvgpt atqamqeflt rlqvhlsstc pqifsefllk
     2761 lihilsterg afqtgqgpld aqvklleftl eqnfevvsvs tisaviesvt flvhhyitcs
     2821 dkvmsrsgsd ssvgaracfg glfanlirpg dakavcgemt rdqlmfdllk lvnilvqlpl
     2881 sgnreysarv svttnttdsv sdeekvsggk dgngsstsvq gspayvadlv lanqqimsqi
     2941 lsalglcnss amamiigasg lhltkhenfh ggldaisvgd glftilttls kkastvhmml
     3001 qpiltymacg ymgrqgslat cqlsepllwf ilrvldtsda lkafhdmggv qlicnnmvts
     3061 traivntars mvstimkfld sgpnkavdst lktrilasep dnaegihnfa plgtitsssp
     3121 taqpaevllq atpphrrars aawsyiflpe eawcdltihl paavllkeih iqphlaslat
     3181 cpssvsvevs adgvnmlpls tpvvtsglty ikiqlvkaev asavclrlhr prdastlgls
     3241 qikllgltaf gttssatvnn pflpsedqvs ktsigwlrll hhclthisdl egmmasaaap
     3301 tanllqtcaa llmspycgmh spnievvlvk iglqstrigl klidillrnc aasgsdptdl
     3361 nspllfgrln glssdstidi lyqlgttqdp gtkdriqall kwvsdsarva amkrsgrmny
     3421 mcpnsstvey gllmpspshl hcvaailwhs yellveydlp alldqelfel lfnwsmslpc
     3481 nmvlkkavds llcsmchvhp nyfsllmgwm gitpppvqch hrlsmtddsk kqdlsssltd
     3541 dsknaqapla lteshlatla sssqspeaik qlldsglpsl lvrslasfcf shisssesia
     3601 qsidisqdkl rrhhvpqqcn kmpitadlva pilrfltevg nshimkdwlg gsevnplwta
     3661 llfllchsgs tsgshnlgaq qtsarsasls saattglttq qrtaienatv afflqcisch
     3721 pnnqklmaqv lcelfqtspq rgnlptsgni sgfirrlflq lmledekvtm flqspcplyk
     3781 grinatshvi qhpmygaghk frtlhlpvst tlsdvldrvs dtpsitakli seqkddkekk
     3841 nheekekvka engfqdnysv vvasglksqs kravsatppr ppsrrgrtip dkigstsgae
     3901 aankiitvpv fhlfhkllag qplpaemtla qlltllydrk lpqgyrsidl tvklgsrvit
     3961 dpslsktdsy krlhpekdhg dllascpede altpgdecmd gildesllet cpiqsplqvf
     4021 agmgglalia erlpmlypev iqqvsapvvt sttqekpkds dqfewvtieq sgelvyeape
     4081 tvaaepppik savqtmspip ahslaafglf lrlpgyaevl lkerkhaqcl lrlvlgvtdd
     4141 gegshilqsp sanvlptlpf hvlrslfstt plttddgvll rrmaleigal hlilvclsal
     4201 shhsprvpns svnqtepqvs sshnptstee qqlywakgtg fgtgstasgw dveqaltkqr
     4261 leeehvtcll qvlasyinpv ssavngeaqs shetrgqnsn alpsvllell sqsclipams
     4321 sylrndsvld marhvplyra llellraias caamvplllp lstengeeee eqsecqtsvg
     4381 tllakmktcv dtytnrlrsk renvktgvkp dasdqepegl tllvpdiqkt aeivyaatts
     4441 lrqanqekkl geyskkaamk pkplsvlksl eekyvavmkk lqfdtfemvs ededgklgfk
     4501 vnyhymsqvk nandansaar arrlaqeavt lstslplsss ssvfvrcdee rldimkvlit
     4561 gpadtpyang cfefdvyfpq dypsspplvn lettgghsvr fnpnlyndgk vclsilntwh
     4621 grpeekwnpq tssflqvlvs vqslilvaep yfnepgyers rgtpsgtqss reydgnirqa
     4681 tvkwamleqi rnpspcfkev ihkhfylkrv eimaqceewi adiqqyssdk rvgrtmshha
     4741 aalkrhtaql reellklpcp egldpdtdda pevcrattga eetlmhdqvk pssskelpsd
     4801 fql
//
LOCUS       XP_054200759             827 aa            linear   PRI 20-MAR-2023
DEFINITION  glycerol-3-phosphate acyltransferase 2, mitochondrial isoform X1
            [Homo sapiens].
ACCESSION   XP_054200759
VERSION     XP_054200759.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344784.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..827
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..827
                     /product="glycerol-3-phosphate acyltransferase 2,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=90680
     CDS             1..827
                     /gene="LOC128966744"
                     /coded_by="XM_054344784.1:1079..3562"
                     /db_xref="GeneID:128966744"
ORIGIN      
        1 matmlegrcq tqprsspsgr easlwssgfg mkleavtpfl gkyrpfvgrc cqtctpkswe
       61 slfhrsitdl gfcnvilvke entrfrgwlv rrlcyflwsl eqhippcqdv pqkimestgv
      121 qnllsgrvpg gtgegqvpdl vkkevqrilg hiqapprpfl vrlfswallr flnclflnvq
      181 lhkgqmkmvq kaaqaglplv llsthktlld gillpfmlls qglgvlrvaw dsracspalr
      241 allrklgglf lppeaslsld ssegllarav vqavieqllv sgqpllifle eppgalgprl
      301 salgqawvgf vvqavqvgiv pdallvpvav tydlvpdapc didhasaplg lwtgalavlr
      361 slwsrwgcsh ricsrvhlaq pfslqeyivs arscwggrqt leqllqpivl gqctavpdte
      421 keqewtpitg pllalkeedq llvrrlschv lsasvgssav mstaimatll lfkhqkgvfl
      481 sqllgefswl teeillrgfd vgfsgqlrsl lqhslsllra hvallrirqg dllvvpqpgp
      541 glthlaqlsa ellpvflsea vgacavrgll agrvppqgpw elqgilllsq nelyrqilll
      601 mhllpqdlll lkpcqssycy cqevldrliq cgllvaeetp gsrpacdtgr qrlsrkllwk
      661 psgdftdsds ddfgeadgry frlsqqshcp dfflflcrll spllkafaqa aaflrqgqlp
      721 dtgealvplq ssrqavsvlg arsrsslfcr vglhraavpv paghrpgrrd lrvcgpkarh
      781 qccldlqrpr gsaadaepcr pqappvpyfc qpgqsgktrt vhpavhl
//
LOCUS       XP_054179254            1058 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor coactivator 6 isoform X33 [Homo sapiens].
ACCESSION   XP_054179254
VERSION     XP_054179254.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323279.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1058
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1058
                     /product="nuclear receptor coactivator 6 isoform X33"
                     /calculated_mol_wt=113969
     CDS             1..1058
                     /gene="NCOA6"
                     /gene_synonym="AIB3; ASC2; NRC; PRIP; RAP250; TRBP"
                     /coded_by="XM_054323279.1:344..3520"
                     /db_xref="GeneID:23054"
                     /db_xref="HGNC:HGNC:15936"
                     /db_xref="MIM:605299"
ORIGIN      
        1 mvlddlpnle diytslcsst medsemdfds gledddtksd siledstifv afkgniddkd
       61 fkwkldailk nvpnllhmes sklkvqkvep wnsvrvtfni preaaerlri laqsnnqqlr
      121 dlgilsvqie gegainlala qnrsqdvrmn gpmgagnsvr meagfpmasg pgiirmnnpa
      181 tvmippggnv sssmmapgpn pelqprtprp asqsdamdpl lsglhiqqqs hpsgslapph
      241 hpmqpvsvnr qmnpanfpql qqqqqqqqqq qqqqqqqqqq qqqqqlqarp pqqhqqqqpq
      301 girpqftapt qvpvppgwnq lpsgalqppp aqgslgtmta nqgwkkaplp gpmqqqlqar
      361 pslatvqtps hppppypfgs qqasqahtnf pqmsnpgqft apqmkslqgg psrvptplqq
      421 phltnkspas spssfqqgsp assptvnqtq qqmgprppqn nplpqgfqqp vsspgrnpmv
      481 qqgnvppnfm vmqqqppnqg pqslhpglgg qanpnfmqgq vpsttattpg nsgapqlqan
      541 qnvqhaggqg agppqnqmqv shgppnmmqp slmgihgnmn nqqagtsgvp qvnlsnmqgq
      601 pqqgppsqlm gmhqqivpsq gqmvqqqgtl npqnpmilsr aqlmpqgqmm vnppsqnlgp
      661 spqrmtppkq mlsqqgpqmm aphnqmmgpq gqvllqqnpm ieqimtnqmq gnkqqfntqn
      721 qsnvmpgpaq imrgptpnmq gnmvqftgqm sgqmlpqqgp vnnspsqvmg iqgqvlrppg
      781 psphmaqqhg dpattanndv slsqmmpdvs iqqtnmvpph vqamqgnsas gnhfsghgms
      841 fnapfsgapn gnqmscgqnp gfpvnkdvtl tspllvnllq sdisaghfgv nnkqnntnan
      901 kpkkkkpprk kknsqqdlnt pdtrpaglee adqpplpgeq ginldnsgpk lpefsnrppa
      961 psqnlvsket sttalqasva rpelevnaai vsgqssepke ivekskipgr rnsrteeptv
     1021 asesvenghr krssrpasas sstkditsav qskrrksk
//
LOCUS       XP_054201555             478 aa            linear   PRI 20-MAR-2023
DEFINITION  cilium assembly protein DZIP1L isoform X10 [Homo sapiens].
ACCESSION   XP_054201555
VERSION     XP_054201555.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345580.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..478
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..478
                     /product="cilium assembly protein DZIP1L isoform X10"
                     /calculated_mol_wt=52832
     CDS             1..478
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /coded_by="XM_054345580.1:1299..2735"
                     /db_xref="GeneID:199221"
                     /db_xref="HGNC:HGNC:26551"
                     /db_xref="MIM:617570"
ORIGIN      
        1 mesklgslrd eeseewlrqa relqalrekt eiqktewkrk vkelheehma ekkelqeenq
       61 rlqaslsqdq kkaaaqsqcq istlraqlqe qariiasqee miqslslrkv egihkvpkav
      121 dteedspeee medsqdeqhk vlaalrrnpt llkhfrpile dtleeklesm girkdakgis
      181 iqtlrhlesl lrvqreqkar kfseflslrg klvkevtsra kerqengavv sqpdgqpsvk
      241 sqqstlvtre aqpktrtlqv alpstpaepp pptrqshgsh gssltqvsap aprpglhgps
      301 stppssgpgm stppfsseed segdrvqrvs lqppkvpsrm vprpkddwdw sdtetseena
      361 qppgqgsgtl vqsmvknlek qleapakkpa ggvslffmpn agpqraatpg rkpqvgcrml
      421 rvysgilyrt ssefggpgvk vgegpasvil cpsgtlwvts lcpcahgema sleylyps
//
LOCUS       XP_054204812             344 aa            linear   PRI 20-MAR-2023
DEFINITION  annexin A10 isoform X1 [Homo sapiens].
ACCESSION   XP_054204812
VERSION     XP_054204812.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348837.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..344
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..344
                     /product="annexin A10 isoform X1"
                     /calculated_mol_wt=39305
     CDS             1..344
                     /gene="ANXA10"
                     /gene_synonym="ANX14"
                     /coded_by="XM_054348837.1:165..1199"
                     /db_xref="GeneID:11199"
                     /db_xref="HGNC:HGNC:534"
                     /db_xref="MIM:608008"
ORIGIN      
        1 mfcgdyvqgt ifpapnfnpi mdaqmlggal qgfdcdkdml iniltqrcna qrmmiaeayq
       61 smygraqcvl fssmcpcvli iqllldligd lreqlsdhfk dvmaglmypp plydahelwh
      121 amkgvgtden clieilasrt ngeifqmrea yclqysnnlq ediysetsgh frdtlmnlvq
      181 gtreegytdp amaaqdamvl weacqqktge hktmlqmilc nksyqqlrlv fqefqnisgq
      241 dmvdainecy dgyfqellva ivlcvrdkpa yfayrlysai hdfgfhnktv iriliarsei
      301 dlltirkryk erygkslfhd irnfasghyk kallaicagd aedy
//
LOCUS       XP_054208514            2635 aa            linear   PRI 20-MAR-2023
DEFINITION  microtubule-associated serine/threonine-protein kinase 4 isoform X2
            [Homo sapiens].
ACCESSION   XP_054208514
VERSION     XP_054208514.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352539.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2635
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2635
                     /product="microtubule-associated serine/threonine-protein
                     kinase 4 isoform X2"
                     /calculated_mol_wt=285362
     CDS             1..2635
                     /gene="MAST4"
                     /coded_by="XM_054352539.1:264..8171"
                     /db_xref="GeneID:375449"
                     /db_xref="HGNC:HGNC:19037"
                     /db_xref="MIM:618002"
ORIGIN      
        1 mgekvseape pvprgcsghg srtpasalva asspgassae sssgsetlse egepggfsre
       61 hqpppppplg gtlgarapaa wapasvller gvlalppplp ggavppaprg ssasqeeqde
      121 eldhilsppp mpfrkcsnpd vasgpgkslk ykrqlsedgr qlrrgslgga ltgryllpnp
      181 vagqawpasa etsnlvrmrs qalgqsapsl taslkelslp rrgslidsqk wnclvkrcrt
      241 snrksligng qspalprphs plsahagnsp qdsprnfsps asahfsfarr tdgrrwslas
      301 lpssgygtnt psstvssscs sqeklhqlpy qptpdelhfl skhfcttesi atenrcrntp
      361 mrprsrslsp grspaccdhe iimmnhvyke rfpkataqme erlkeiitsy spdnvlplad
      421 gvlsfthhqi ielardcldk shqglitsry flelqhkldk llqeahdrse sgelafikql
      481 vrkiliviar parlleclef dpeefyylle aaeghakegq giktdipryi isqlglnkdp
      541 leemahlgny dsgtaetpet desvsssnas lklrrkpres dfetiklisn gaygavyfvr
      601 hkesrqrfam kkinkqnlil rnqiqqafve rdiltfaenp fvvsmycsfe trrhlcmvme
      661 yveggdcatl mknmgplpvd marmyfaetv laleylhnyg ivhrdlkpdn llvtsmghik
      721 ltdfglskvg lmsmttnlye ghiekdaref ldkqvcgtpe yiapevilrq gygkpvdwwa
      781 mgiilyeflv gcvpffgdtp eelfgqvisd einwpekdea pppdaqdlit lllrqnpler
      841 lgtggayevk qhrffrsldw nsllrqkaef ipqleseddt syfdtrseky hhmeteeedd
      901 tndedfnvei rqfsscshrf skvfssidri tqnsaeeked svdktksttl pstetlswss
      961 eysemqqlst snssdtesnr hklssgllpk laistegeqd eaascpgdph eepgkpalpp
     1021 eecaqeepev ttpastisss tlsvgsfseh ldqingrsec vdstdnsskp ssepashmar
     1081 qrlestekkk isgkvtksls asalslmipg dmfavsplgs pmsphslssd psssrdssps
     1141 rdssaasasp hqpivihssg knygftirai rvyvgdsdiy tvhhivwnve egspacqagl
     1201 kagdlithin gepvhglvht evielllksg nkvsitttpf entsiktgpa rrnsyksrmv
     1261 rrskkskkke slerrrslfk klakqpspll htsrsfscln rslssgeslp gspthslspr
     1321 sptpsyrstp dfpsgtnssq ssspsssapn spagsghirp stlhglapkl ggqryrsgrr
     1381 ksagniplsp lartpsptpq ptspqrspsp llghslgnsk iaqafpskmh spptivrhiv
     1441 rpksaepprs pllkrvqsee klspsygsdk khlcsrkhsl evtqeevqre qsqreaplqs
     1501 ldenvcdvpp lsrarpveqg clkrpvsrkv grqesvddld rdklkakvvv kkadgfpekq
     1561 eshqkshgpg sdlenfalfk leerekkvyp kaversstfe nkasmqeapp lgsllkdalh
     1621 kqasvraseg amsdgpvpae hrqgggdfrr apapgtlqdg lchsldrgis gkgegtekss
     1681 qakellrcek ldsklanidy lrkkmsledk ednlcpvlkp kmtagshecl pgnpvrptgg
     1741 qqepppases rafvssthaa qmsavsfvpl kaltgrvdsg tekpglvape spvrkspsey
     1801 klegrsvscl kpiegtldia llsgpqaskt elpspesaqs pspsgdvras vppvlpsssg
     1861 kkndttsare lspsslkmnk syllepwflp psrglqnspa vslpdpefkr drkgphptsr
     1921 spgtvmesnp qqregsspkh qdhttdpkll tclgqnlhsp dlarprcplp peaspsrekp
     1981 glressergp ptarsersaa radtcrepsm elcfpetakt sdnsknllsv grthpdfytq
     2041 tqamekawap ggktnhkdgp gearppprdn sslhsagipc ekelgkvrrg vepkpealla
     2101 rrslqppgie sekseklssf pslqkdgake perkeqplqr hpssippppl takdlsspaa
     2161 rqhcsspsha sgrepgakps taepssspqd ppkpvaahse ssshkprpgp dpgppktkhp
     2221 drslssqkps vgatkgkepa tqslggssre gkghsksgpd vfpatpgsqn kasdgigqge
     2281 ggpsvplhtd rapldakpqp tsggrplevl ekpvhlprpg hpgpsepadq klsavgekqt
     2341 lspkhpkpst vkdcptlckq tdnrqtdksp sqpaantdrr aegkkcteal yapaegdkle
     2401 aglsfvhsen rlkgaerpaa gvgkgfpear gkgpgpqkpp teadkpngmk rspsatgqss
     2461 frstalpeks lscsssfpet ragvreasaa ssdtssakaa ggmlelpaps nrdhrkaqpa
     2521 gegrthmtks dslpsfrvst lpleshhpdp ntmggashrd ralsvtatvg etkgkdpapa
     2581 qppparkqnv grdvtkpspa pntdrpisls nekdfvvrqr rgkeslrssp hkkal
//
LOCUS       XP_054210676             692 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 6 isoform X14 [Homo
            sapiens].
ACCESSION   XP_054210676
VERSION     XP_054210676.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354701.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..692
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..692
                     /product="ankyrin repeat domain-containing protein 6
                     isoform X14"
                     /calculated_mol_wt=75592
     CDS             1..692
                     /gene="ANKRD6"
                     /coded_by="XM_054354701.1:725..2803"
                     /db_xref="GeneID:22881"
                     /db_xref="HGNC:HGNC:17280"
                     /db_xref="MIM:610583"
ORIGIN      
        1 msqqdavaal serllvaayk gqtenvvqli nkgarvavtk hgrtplhlaa nkghlpvvqi
       61 llkagcdldv qddgdqtalh ratvvgntei iaalihegca ldrqdkdgnt alheaswhgf
      121 sqsakllvka ganvlaknka gntalhlacq nshsqstrvl llagsradlk nnagdtclhv
      181 aarynhlsii rllltafcsv heknqagdta lhvaaalnhk kvakilleag adttivnnag
      241 qtpletaryh nnpevalllt kapqgsvsag dtpsseqava rkeeareefl saspeprakd
      301 drrrksrpkv safsdptppa dqqpghqknl hahnhpkkrn rhrcsspppp hefrayqlyt
      361 lyrgkdgkvm qapingcrce plinklenql eatveeikae lgsvqdkmnt klgqmenktq
      421 hqmrvldklm verlsaerte clnrlqqhsd tekhegekrq islvdelktw cmlkiqnleq
      481 klsgdsracr akstpstces stgvdqlvvt agpaaasdss ppvvrpkeka lnstatqrlq
      541 qelsssdctg srlrnvkvqt allpmneaar sdqqagpcvn rgtqtkksgk sgptrhraqq
      601 paasstcgqp ppatgseqtg phirdtsqal eltqyffeav stqmekwyer kieearsqan
      661 qkaqqdkatl kehiksleee laklrtrvqk en
//
LOCUS       XP_054215161             104 aa            linear   PRI 20-MAR-2023
DEFINITION  mitochondrial inner membrane protease subunit 2 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054215161
VERSION     XP_054215161.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359186.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 8% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..104
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..104
                     /product="mitochondrial inner membrane protease subunit 2
                     isoform X6"
                     /calculated_mol_wt=11405
     CDS             1..104
                     /gene="IMMP2L"
                     /gene_synonym="IMMP2L-IT1; IMP2; IMP2-LIKE"
                     /coded_by="XM_054359186.1:645..959"
                     /db_xref="GeneID:83943"
                     /db_xref="HGNC:HGNC:14598"
                     /db_xref="MIM:605977"
ORIGIN      
        1 maqsqgwvkr yikafckgff vavpvavtfl drvacvarve gasmqpslnp ggsqssdvvl
       61 lnhwkvrnfe vhrgdivslv spknpeqkii krvialegdi vrfp
//
LOCUS       XP_054183050             427 aa            linear   PRI 20-MAR-2023
DEFINITION  arylsulfatase L isoform X3 [Homo sapiens].
ACCESSION   XP_054183050
VERSION     XP_054183050.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327075.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..427
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..427
                     /product="arylsulfatase L isoform X3"
                     /calculated_mol_wt=46840
     CDS             1..427
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /coded_by="XM_054327075.1:126..1409"
                     /db_xref="GeneID:415"
                     /db_xref="HGNC:HGNC:719"
                     /db_xref="MIM:300180"
ORIGIN      
        1 mrpvinrcap gsldlmlpqa asegivfhsl qislcfrswl pamlavllsl apsassdisa
       61 srpnilllma ddlgigdigc ygnntmrtpn idrlaedgvk ltqhisaasl ctpsraaflt
      121 grypvrsgmv ssigyrvlqw tgasgglptn ettfakilke kgyatgligr ildtldvegl
      181 snstliyfts dhggslenql gntqyggwng iykggkgmgg weggirvpgi frwpgvlpag
      241 rvigeptslm dvfptvvrla gsevpqdrvi dgqdllplll gtaqhsdhef lmhycerflh
      301 aarwhqrdrg tmwkvhfvtp vfqpegagac ygrkvcpcfg ekvvhhdppl lfdlsrdpse
      361 thiltpasep vfyqvmervq qavwehqrtl spvplqldrl gniwrpwlqp ccgpfplcwc
      421 lreddpq
//
LOCUS       XP_054183263             653 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase with EF-hands 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_054183263
VERSION     XP_054183263.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327288.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..653
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..653
                     /product="serine/threonine-protein phosphatase with
                     EF-hands 1 isoform X1"
                     /calculated_mol_wt=75661
     CDS             1..653
                     /gene="PPEF1"
                     /gene_synonym="PP7; PPEF; PPP7C; PPP7CA"
                     /coded_by="XM_054327288.1:2859..4820"
                     /db_xref="GeneID:5475"
                     /db_xref="HGNC:HGNC:9243"
                     /db_xref="MIM:300109"
ORIGIN      
        1 mgcsssstkt rrsdtslraa liiqnwyrgy karlkarqhy altifqsiey adeqgqmqls
       61 tffsfmleny thihkeelel rnqsleseqd mrdrwdyvds idvpdsyngp rlqfpltctd
      121 idllleafke qqilhahyvl evlfetkkvl kqmpnfthiq tspskevtic gdlhgklddl
      181 flifyknglp sernpyvfng dfvdrgknsi eilmilcvsf lvypndlhln rgnhedfmmn
      241 lrygftkeil hkyklhgkri lqileefyaw lpigtivdne ilvihggise ttdlnllhrv
      301 ernkmksvli pptetnrdhd tdskhnkvgv tfnahgrikt ngsptehlte heweqiidil
      361 wsdprgkngc fpntcrgggc yfgpdvtski lnkyqlkmli rsheckpegy eichdgkvvt
      421 ifsasnyyee gsnrgayikl csgttprffq yqvtkatcfq plrqrvdtme nsaikilrer
      481 visrksdltr afqlqdhrks gklsvsqwaf cmenilglnl pwrslssnlv nidqngnvey
      541 mssfqnirie kpvqeahstl vetlyryrsd leiifnaidt dhsglisvee framwklfss
      601 hynvhiddsq vnklanimdl nkdgsidfne flkafyvvhr yedlmkpdvt nlg
//
LOCUS       XP_054183575            1800 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase WNK3 isoform X1 [Homo sapiens].
ACCESSION   XP_054183575
VERSION     XP_054183575.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327600.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1800
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1800
                     /product="serine/threonine-protein kinase WNK3 isoform X1"
                     /calculated_mol_wt=198285
     CDS             1..1800
                     /gene="WNK3"
                     /gene_synonym="PRKWNK3"
                     /coded_by="XM_054327600.1:453..5855"
                     /db_xref="GeneID:65267"
                     /db_xref="HGNC:HGNC:14543"
                     /db_xref="MIM:300358"
ORIGIN      
        1 matdsgdpas tedsekpdgi sfenrvpqva atltvearlk eknstfsasg etverkrffr
       61 ksvemteddk vaesspkder ikaamniprv dklpsnvlrg gqevkyeqcs kstseiskdc
      121 fkeknekeme eeaemkavat spsgrflkfd ielgrgafkt vykgldtetw vevawcelqd
      181 rkltkaeqqr fkeeaemlkg lqhpnivrfy dswesilkgk kcivlvtelm tsgtlktylk
      241 rfkvmkpkvl rswcrqilkg lqflhtrtpp iihrdlkcdn ifitgptgsv kigdlglatl
      301 mrtsfaksvi gtpefmapem yeehydesvd vyafgmcmle matseypyse cqnaaqiyrk
      361 vtsgikpasf nkvtdpevke iiegcirqnk serlsirdll nhaffaedtg lrvelaeedd
      421 csnsslalrl wvedpkklkg khkdneaief sfnletdtpe evayemvksg ffhesdskav
      481 aksirdrvtp ikktrekkpa gcleerrdsq cksmgnvfpq pqnttlplap aqqtgaecee
      541 tevdqhvrqq llqrkpqqhc ssvtgdnlse agaasvihsd tssqpsvays snqtmgsqmv
      601 snipqaevnv pgqiyssqql vghyqqvsgl qkhskltqpq ilplvqgqst vlpvhvlgpt
      661 vvsqpqvspl tvqkvpqikp vsqpvgaeqq aallkpdlvr slnqdvattk envsspdnps
      721 gngkqdrikq rrascprpek gtkfqltvlq vstsgdnmve cqlethnnkm vtfkfdvdgd
      781 apediadymv ednfvlesek ekfveelrai vgqaqeilhv hfateratgv dsitvdsnss
      841 qtgsseqvqi nststqtsne sapqsspvgr wrfcinqtir nretqsppsl qhsmsavpgr
      901 hplpspknts nkeisrdtll tiennpchra lftsksehkd vvdgkiseca svetkqpail
      961 yqvednrqim apvtnsssys ttsvravpae cegltkqasi fipvypchqt asqadalmsh
     1021 pgestqtsgn slttlafdqk pqtlsvqqpa mdaefisqeg ettvnteass pktviptqtp
     1081 glepttlqpt tvlesdgerp pklefadnri ktldeklrnl lyqehsissi ypesqkdtqs
     1141 idspfsssae dtlscpvtev iaishcgikd spvqspnfqq tgskllsnva asqpanisvf
     1201 krdlnvitsv pselclhems sdaslpgdpe aypaavssgg aihlqtgggy fglsftcpsl
     1261 knpiskkswt rklkswayrl rqstsffkrs kvrqveteem rsaiapdpip ltrestadtr
     1321 alnrckamsg sfqrgrfqvi tipqqqsakm tsfgiehisv fsetnhssee afiktaksql
     1381 veiepatqnp ktsfsyeklq alqetckenk gvpkqgdnfl sfsaacetdv ssvtpekefe
     1441 etsatgssmq sgselllker eiltagkqps sdsefsasla gsgksvaktg pesnqclphh
     1501 eeqayaqtqs slfyspsspm ssddeseied edlkvelqrl rekhiqevvn lqtqqnkelq
     1561 elyerlrsik dsktqsteip lppasprrpr sfksklrsrp qslthvdngi vatgksclin
     1621 elenplcves naascqqspa skkgmftddl hklvddwtke avgnslikps lnqlkqsqhk
     1681 letenwnkvs entpstmgyt stwisslsqi rgavptslpq glslpsfpgp lssygmphvc
     1741 qynavagagy pvqwvgisgt tqqsvvipaq sggpfqpgmn mqafptssvq npatippgpk
//
LOCUS       NP_001365049            1727 aa            linear   PRI 22-MAR-2023
DEFINITION  methyl-CpG-binding domain protein 5 isoform 1 [Homo sapiens].
ACCESSION   NP_001365049 XP_024308755
VERSION     NP_001365049.1
DBSOURCE    REFSEQ: accession NM_001378120.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1727)
  AUTHORS   Bhatia M, Cavalleri GL, White M, Delanty N, Sweeney BJ, Costello
            DJ, Greally MT and Benson KA.
  TITLE     Germline mosaicism in a family with MBD5 haploinsufficiency
  JOURNAL   Cold Spring Harb Mol Case Stud 8 (7), a006253 (2022)
   PUBMED   36396431
  REMARK    GeneRIF: Germline mosaicism in a family with MBD5
            haploinsufficiency.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1727)
  AUTHORS   Jing XW, Cheng MM, Niu XY, Yang Y, Yang XL, Yang ZX and Zhang YH.
  TITLE     [Clinical phenotypes and genetic features of epilepsy children with
            MBD5 gene variants]
  JOURNAL   Zhonghua Er Ke Za Zhi 60 (4), 345-349 (2022)
   PUBMED   35385942
  REMARK    GeneRIF: [Clinical phenotypes and genetic features of epilepsy
            children with MBD5 gene variants].
REFERENCE   3  (residues 1 to 1727)
  AUTHORS   Ohori S, Tsuburaya RS, Kinoshita M, Miyagi E, Mizuguchi T,
            Mitsuhashi S, Frith MC and Matsumoto N.
  TITLE     Long-read whole-genome sequencing identified a partial MBD5
            deletion in an exome-negative patient with neurodevelopmental
            disorder
  JOURNAL   J Hum Genet 66 (7), 697-705 (2021)
   PUBMED   33510365
  REMARK    GeneRIF: Long-read whole-genome sequencing identified a partial
            MBD5 deletion in an exome-negative patient with neurodevelopmental
            disorder.
REFERENCE   4  (residues 1 to 1727)
  AUTHORS   Le TNU and Ha TMT.
  TITLE     MBD5-related intellectual disability in a Vietnamese child
  JOURNAL   Am J Med Genet A 185 (4), 1321-1323 (2021)
   PUBMED   33427406
  REMARK    GeneRIF: MBD5-related intellectual disability in a Vietnamese
            child.
REFERENCE   5  (residues 1 to 1727)
  AUTHORS   Gonzalez-Ortega G, Llamas-Velasco S, Arteche-Lopez A,
            Quesada-Espinosa JF, Puertas-Martin V, Gomez-Grande A,
            Lopez-Alvarez J, Saiz Diaz RA, Lezana-Rosales JM, Villarejo-Galende
            A and Gonzalez de la Aleja J.
  TITLE     Early-Onset Dementia Associated with a Heterozygous, Nonsense, and
            de novo Variant in the MBD5 Gene
  JOURNAL   J Alzheimers Dis 84 (1), 73-78 (2021)
   PUBMED   34459404
  REMARK    GeneRIF: Early-Onset Dementia Associated with a Heterozygous,
            Nonsense, and de novo Variant in the MBD5 Gene.
REFERENCE   6  (residues 1 to 1727)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (residues 1 to 1727)
  AUTHORS   Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B,
            Nathrath M, Wahl D, Heye B, Glaser D, Liebscher V, Meitinger T and
            Strom TM.
  TITLE     Copy-number variations measured by single-nucleotide-polymorphism
            oligonucleotide arrays in patients with mental retardation
  JOURNAL   Am J Hum Genet 81 (4), 768-779 (2007)
   PUBMED   17847001
REFERENCE   8  (residues 1 to 1727)
  AUTHORS   Roloff TC, Ropers HH and Nuber UA.
  TITLE     Comparative study of methyl-CpG-binding domain proteins
  JOURNAL   BMC Genomics 4 (1), 1 (2003)
   PUBMED   12529184
REFERENCE   9  (residues 1 to 1727)
  AUTHORS   Nakayama M, Kikuno R and Ohara O.
  TITLE     Protein-protein interactions between large proteins: two-hybrid
            screening using a functionally classified library composed of long
            cDNAs
  JOURNAL   Genome Res 12 (11), 1773-1784 (2002)
   PUBMED   12421765
REFERENCE   10 (residues 1 to 1727)
  AUTHORS   Mullegama,S.V., Mendoza-Londono,R. and Elsea,S.H.
  TITLE     MBD5 Haploinsufficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27786435
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC019226.5, AC018465.8,
            AC019070.7 and AC016731.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 29, 2020 this sequence version replaced XP_024308755.1.
            
            Summary: This gene encodes a member of the methyl-CpG-binding
            domain (MBD) family. The MBD consists of about 70 residues and is
            the minimal region required for a methyl-CpG-binding protein
            binding specifically to methylated DNA. In addition to the MBD
            domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro
            motif), which consists of 100-150 amino acids and is found in
            numerous proteins that are involved in cell division, growth and
            differentiation. Mutations in this gene cause an autosomal dominant
            type of cognitive disability. The encoded protein interacts with
            the polycomb repressive complex PR-DUB which catalyzes the
            deubiquitination of a lysine residue of histone 2A.
            Haploinsufficiency of this gene is associated with a syndrome
            involving microcephaly, intellectual disabilities, severe speech
            impairment, and seizures. Alternatively spliced transcript variants
            have been found, but their full-length nature is not determined.
            [provided by RefSeq, Jul 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2939072.1,
                                           SRR14038191.4041307.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642680.2/ ENSP00000493871.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1727
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q23.1"
     Protein         1..1727
                     /product="methyl-CpG-binding domain protein 5 isoform 1"
                     /note="methyl-CpG-binding protein MBD5"
                     /calculated_mol_wt=183553
     Region          21..79
                     /region_name="MBD"
                     /note="MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and
                     BAZ2A-like proteins constitute a family of proteins that
                     share the methyl-CpG-binding domain (MBD). The MBD
                     consists of about 70 residues and is defined as the
                     minimal region required for binding to...; cl00110"
                     /db_xref="CDD:444698"
     Region          1616..1699
                     /region_name="PWWP_MBD5"
                     /note="PWWP domain found in methyl-CpG-binding domain
                     protein 5 (MBD5) and similar proteins; cd20141"
                     /db_xref="CDD:438969"
     Site            order(1629,1632,1651)
                     /site_type="other"
                     /note="putative methyl-histone binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438969"
     Site            1630..1633
                     /site_type="other"
                     /note="PWWP sequence motif"
                     /db_xref="CDD:438969"
     CDS             1..1727
                     /gene="MBD5"
                     /gene_synonym="C2DELq23.1; DEL2Q23.1; MRD1"
                     /coded_by="NM_001378120.1:1519..6702"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS92873.1"
                     /db_xref="GeneID:55777"
                     /db_xref="HGNC:HGNC:20444"
                     /db_xref="MIM:611472"
ORIGIN      
        1 mnggkecdgg dkegglpaiq vpvgwqrrvd qngvlyvsps gsllscleqv ktylltdgtc
       61 kcglecplil pkvfnfdpga avkqrtaedv kadedvtklc ihkrkiiava tlhksmeaph
      121 pslvltspgg gtnatpvvps raatprsvrn kshegitnsv mpecknpfkl migssnamgr
      181 lyvqelpgsq qqelhpvypr qrlgssehgq kspfrgshgg lpspassgsq iygdgsispr
      241 tdplgspdvf trsnpgfhga pnsspihlnr tplsppsvml hgspvqssca magrtnipls
      301 ptlttkspvm kkpmcnfstn meipramfhh kppqgppppp ppscalqkkp ltsekdplgi
      361 ldpipskpvn qnpviinpts fhsnvhsqvp mmnvsmppav vplpsnlplp tvkpghmnhg
      421 shvqrvqhsa stslspspvt spvhmmgtgi grieaspqrs rssstssdhg nfmmppvgpq
      481 atssgikvpp rsprstigsp rpsmpsspst ksdghhqykd ipnpliagis nvlntpssaa
      541 fptasagsss vksqpgllgm plnqilnqhn aasfpassll saaakaqlan qnklagnnss
      601 sssnsgavag sgnteghstl ntmfpptanm llptgegqsg raalrdklms qqkdalrkrk
      661 qppttvlsll rqsqmdssav pkpgpdllrk qgqgsfpiss msqllqsmsc qsshlssnst
      721 pgcgasntal pcsanqlhft dpsmnssvlq niplrgeavh chnantnfvh snspvpnhhl
      781 aglinqiqas gncgmlsqsg malgnslhpn ppqsristss tpvipnsivs synqtsseag
      841 gsgpsssiai agtnhpaitk ttsvlqdgvi vttaagnplq sqlpigsdfp fvgqehalhf
      901 psnstsnnhl phplnpslls slpislpvnq qhllnqnlln ilqpsagegk seinlhplgf
      961 lnpnvnaala flssdmdgqv lqpvhfqlla allqnqaqaa amlplpsfnl tisdllqqqn
     1021 tplpsltqmt appdhlpsnq sdnsraetll tsplgnplps fagsdttfnp lflpavngas
     1081 glmtlnpqll ggvlnsasan tanhpevsia tssqattttt ttssavaalt vstlggtavv
     1141 smaetllnis nnagntpgpa klnsnsvvpq llnpllgtgl lgdmssinnt lsnhqlthlq
     1201 sllnnnqmfp pnqqqqqllq gyqnlqafqg qstipcpann npmaclfqnf qvrmqedaal
     1261 lnkristqpg ltalpenpnt tlppfqdtpc elqpridpsl gqqvkdglvv ggpgdasvda
     1321 iykavvdaas kgmqvvitta vnsttqispi palsamsaft asigdplnls savsavihgr
     1381 nmggvdhdgr lrnsrgarlp knldhgknvn egdgfeyfks aschtskkqw dgeqsprger
     1441 nrwkyeefld hpghihsspc herpnnvstl pflpgeqhpi llpprncpgd kileenfryn
     1501 nykrtmmsfk erlentverc ahingnrprq srgfgellst akqdlvleeq spsssnslen
     1561 slvkdyihyn gdfnaksvng cvpspsdaks isseddlrnp dspssnelih yrprtfnvgd
     1621 lvwgqikglt swpgklvred dvhnscqqsp eegkvepekl ktltegleay srvrkrnrks
     1681 gklnnhleaa iheamseldk msgtvhqipq gdrqmrppkp krrkisr
//
LOCUS       NP_061850                828 aa            linear   PRI 03-APR-2023
DEFINITION  neuroligin-3 isoform 2 precursor [Homo sapiens].
ACCESSION   NP_061850 XP_005262334
VERSION     NP_061850.2
DBSOURCE    REFSEQ: accession NM_018977.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 828)
  AUTHORS   Oleari R, Lettieri A, Manzini S, Paganoni A, Andre V, Grazioli P,
            Busnelli M, Duminuco P, Vitobello A, Philippe C, Bizaoui V, Storr
            HL, Amoruso F, Memi F, Vezzoli V, Massa V, Scheiffele P, Howard SR
            and Cariboni A.
  TITLE     Autism-linked NLGN3 is a key regulator of gonadotropin-releasing
            hormone deficiency
  JOURNAL   Dis Model Mech 16 (3) (2023)
   PUBMED   36810932
  REMARK    GeneRIF: Autism-linked NLGN3 is a key regulator of
            gonadotropin-releasing hormone deficiency.
REFERENCE   2  (residues 1 to 828)
  AUTHORS   Zhang Z, Hou M, Ou H, Wang D, Li Z, Zhang H and Lu J.
  TITLE     Expression and structural analysis of human neuroligin 2 and
            neuroligin 3 implicated in autism spectrum disorders
  JOURNAL   Front Endocrinol (Lausanne) 13, 1067529 (2022)
   PUBMED   36479216
  REMARK    GeneRIF: Expression and structural analysis of human neuroligin 2
            and neuroligin 3 implicated in autism spectrum disorders.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 828)
  AUTHORS   Wang Y, Liu YY, Chen MB, Cheng KW, Qi LN, Zhang ZQ, Peng Y, Li KR,
            Liu F, Chen G and Cao C.
  TITLE     Neuronal-driven glioma growth requires Galphai1 and Galphai3
  JOURNAL   Theranostics 11 (17), 8535-8549 (2021)
   PUBMED   34373757
  REMARK    GeneRIF: Neuronal-driven glioma growth requires Galphai1 and
            Galphai3.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 828)
  AUTHORS   Sledziowska M, Galloway J and Baudouin SJ.
  TITLE     Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1 Pathway in the
            Pathophysiology of Autism Spectrum Disorders
  JOURNAL   Neuroscience 445, 31-41 (2020)
   PUBMED   31705895
  REMARK    GeneRIF: Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1
            Pathway in the Pathophysiology of Autism Spectrum Disorders.
            Review article
REFERENCE   5  (residues 1 to 828)
  AUTHORS   Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC,
            Soderstrom H, Giros B, Leboyer M, Gillberg C and Bourgeron T.
  CONSRTM   Paris Autism Research International Sibpair Study
  TITLE     Mutations of the X-linked genes encoding neuroligins NLGN3 and
            NLGN4 are associated with autism
  JOURNAL   Nat Genet 34 (1), 27-29 (2003)
   PUBMED   12669065
  REMARK    GeneRIF: report mutations in two X-linked genes encoding
            neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum
            disorders
REFERENCE   6  (residues 1 to 828)
  AUTHORS   Cantallops I and Cline HT.
  TITLE     Synapse formation: if it looks like a duck and quacks like a duck
            ...
  JOURNAL   Curr Biol 10 (17), R620-R623 (2000)
   PUBMED   10996085
  REMARK    Review article
REFERENCE   7  (residues 1 to 828)
  AUTHORS   Philibert RA, Winfield SL, Sandhu HK, Martin BM and Ginns EI.
  TITLE     The structure and expression of the human neuroligin-3 gene
  JOURNAL   Gene 246 (1-2), 303-310 (2000)
   PUBMED   10767552
REFERENCE   8  (residues 1 to 828)
  AUTHORS   Missler M, Fernandez-Chacon R and Sudhof TC.
  TITLE     The making of neurexins
  JOURNAL   J Neurochem 71 (4), 1339-1347 (1998)
   PUBMED   9751164
  REMARK    Review article
REFERENCE   9  (residues 1 to 828)
  AUTHORS   Irie M, Hata Y, Takeuchi M, Ichtchenko K, Toyoda A, Hirao K, Takai
            Y, Rosahl TW and Sudhof TC.
  TITLE     Binding of neuroligins to PSD-95
  JOURNAL   Science 277 (5331), 1511-1515 (1997)
   PUBMED   9278515
REFERENCE   10 (residues 1 to 828)
  AUTHORS   Ichtchenko K, Nguyen T and Sudhof TC.
  TITLE     Structures, alternative splicing, and neurexin binding of multiple
            neuroligins
  JOURNAL   J Biol Chem 271 (5), 2676-2682 (1996)
   PUBMED   8576240
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP201014.1, AF217411.1,
            BC028738.1 and BC051715.1.
            On or before Aug 31, 2013 this sequence version replaced
            XP_005262334.1, NP_061850.1.
            
            Summary: This gene encodes a member of a family of neuronal cell
            surface proteins. Members of this family may act as splice
            site-specific ligands for beta-neurexins and may be involved in the
            formation and remodeling of central nervous system synapses.
            Mutations in this gene may be associated with autism and Asperger
            syndrome. Multiple transcript variants encoding distinct isoforms
            have been identified for this gene. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. This results
            in a shorter protein (isoform 2), compared to isoform 1. Isoform 2
            has also been referred to as HNL3L, or the long form.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.266268.1,
                                           SRR1803615.272798.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..828
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     Protein         1..828
                     /product="neuroligin-3 isoform 2 precursor"
                     /note="gliotactin homolog"
                     /calculated_mol_wt=87519
     sig_peptide     1..37
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=4070
     Region          40..604
                     /region_name="COesterase"
                     /note="Carboxylesterase family; pfam00135"
                     /db_xref="CDD:395084"
     Site            order(188..190,267..269,272,411,415..416,458,504,507)
                     /site_type="other"
                     /note="substrate binding pocket [chemical binding]"
                     /db_xref="CDD:238191"
     Site            order(268,389,503)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:238191"
     CDS             1..828
                     /gene="NLGN3"
                     /gene_synonym="HNL3"
                     /coded_by="NM_018977.4:325..2811"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS14407.1"
                     /db_xref="GeneID:54413"
                     /db_xref="HGNC:HGNC:14289"
                     /db_xref="MIM:300336"
ORIGIN      
        1 mwlrlgppsl slspkptvgr slcltlwfls lalrastqap aptvnthfgk lrgarvplps
       61 eilgpvdqyl gvpyaappig ekrflppepp pswsgirnat hfppvcpqni htavpevmlp
      121 vwftanldiv atyiqepned clylnvyvpt edgsgakkqg edladndgde dedirdsgak
      181 pvmvyihggs ymegtgnmid gsilasygnv ivitlnyrvg vlgflstgdq aakgnyglld
      241 qiqalrwvse niaffggdpr ritvfgsgig ascvslltls hhseglfqra iiqsgsalss
      301 wavnyqpvky tslladkvgc nvldtvdmvd clrqksakel veqdiqpary hvafgpvidg
      361 dvipddpeil meqgeflnyd imlgvnqgeg lkfvegvvdp edgvsgtdfd ysvsnfvdnl
      421 ygypegkdtl retikfmytd wadrdnpetr rktlvalftd hqwvepsvvt adlharygsp
      481 tyfyafyhhc qslmkpawsd aahgdevpyv fgvpmvgptd lfpcnfsknd vmlsavvmty
      541 wtnfaktgdp nkpvpqdtkf ihtkanrfee vawskynprd qlylhiglkp rvrdhyratk
      601 vafwkhlvph lynlhdmfhy tstttkvppp dtthsshitr rpngktwstk rpaispaysn
      661 enaqgswngd qdagpllven prdystelsv tiavgasllf lnvlafaaly yrkdkrrqep
      721 lrqpspqrga gapelgaape eelaalqlgp thheceagpp hdtlrltalp dytltlrrsp
      781 ddiplmtpnt itmipnslvg lqtlhpyntf aagfnstglp hshsttrv
//
LOCUS       NP_002733                912 aa            linear   PRI 03-APR-2023
DEFINITION  serine/threonine-protein kinase D1 isoform 2 [Homo sapiens].
ACCESSION   NP_002733
VERSION     NP_002733.2
DBSOURCE    REFSEQ: accession NM_002742.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 912)
  AUTHORS   Legay C, Doublier S, Babajko S and Ricort JM.
  TITLE     Protein kinase D1 overexpression potentiates epidermal growth
            factor signaling pathway in MCF-7 cells
  JOURNAL   Mol Biol Rep 50 (4), 3641-3651 (2023)
   PUBMED   36800056
  REMARK    GeneRIF: Protein kinase D1 overexpression potentiates epidermal
            growth factor signaling pathway in MCF-7 cells.
REFERENCE   2  (residues 1 to 912)
  AUTHORS   Sharma D, Kaur G, Bisen S, Sharma A, Ibrahim AS and Singh NK.
  TITLE     IL-33 via PKCmu/PRKD1 Mediated alpha-Catenin Phosphorylation
            Regulates Endothelial Cell-Barrier Integrity and Ischemia-Induced
            Vascular Leakage
  JOURNAL   Cells 12 (5), 703 (2023)
   PUBMED   36899839
  REMARK    GeneRIF: IL-33 via PKCmu/PRKD1 Mediated alpha-Catenin
            Phosphorylation Regulates Endothelial Cell-Barrier Integrity and
            Ischemia-Induced Vascular Leakage.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 912)
  AUTHORS   Reinhardt R, Hirzel K, Link G, Eisler SA, Hagele T, Parson MAH,
            Burke JE, Hausser A and Leonard TA.
  TITLE     PKD autoinhibition in trans regulates activation loop
            autophosphorylation in cis
  JOURNAL   Proc Natl Acad Sci U S A 120 (7), e2212909120 (2023)
   PUBMED   36745811
  REMARK    GeneRIF: PKD autoinhibition in trans regulates activation loop
            autophosphorylation in cis.
REFERENCE   4  (residues 1 to 912)
  AUTHORS   Wang F, Yin XS, Lu J, Cen C and Wang Y.
  TITLE     Phosphorylation-dependent positive feedback on the oxytocin
            receptor through the kinase PKD1 contributes to long-term social
            memory
  JOURNAL   Sci Signal 15 (719), eabd0033 (2022)
   PUBMED   35104164
  REMARK    GeneRIF: Phosphorylation-dependent positive feedback on the
            oxytocin receptor through the kinase PKD1 contributes to long-term
            social memory.
REFERENCE   5  (residues 1 to 912)
  AUTHORS   Omer S, Jin SC, Koumangoye R, Robert SM, Duran D, Nelson-Williams
            C, Huttner A, DiLuna M, Kahle KT and Delpire E.
  TITLE     Protein kinase D1 variant associated with human epilepsy and
            peripheral nerve hypermyelination
  JOURNAL   Clin Genet 100 (2), 176-186 (2021)
   PUBMED   33904160
  REMARK    GeneRIF: Protein kinase D1 variant associated with human epilepsy
            and peripheral nerve hypermyelination.
REFERENCE   6  (residues 1 to 912)
  AUTHORS   Johannes FJ, Prestle J, Eis S, Oberhagemann P and Pfizenmaier K.
  TITLE     PKCu is a novel, atypical member of the protein kinase C family
  JOURNAL   J Biol Chem 269 (8), 6140-6148 (1994)
   PUBMED   8119958
REFERENCE   7  (residues 1 to 912)
  AUTHORS   Jakobovits A, Rosenthal A and Capon DJ.
  TITLE     Trans-activation of HIV-1 LTR-directed gene expression by tat
            requires protein kinase C
  JOURNAL   EMBO J 9 (4), 1165-1170 (1990)
   PUBMED   2182321
  REMARK    Erratum:[EMBO J 1990 Oct;9(10):3413]
REFERENCE   8  (residues 1 to 912)
  AUTHORS   Davis,R.J. and Czech,M.P.
  TITLE     Platelet-derived growth factor mimics phorbol diester action on
            epidermal growth factor receptor phosphorylation at threonine-654
  JOURNAL   Proc Natl Acad Sci U S A 82 (12), 4080-4084 (1985)
   PUBMED   2987962
REFERENCE   9  (residues 1 to 912)
  AUTHORS   Davis,R.J. and Czech,M.P.
  TITLE     Tumor-promoting phorbol diesters cause the phosphorylation of
            epidermal growth factor receptors in normal human fibroblasts at
            threonine-654
  JOURNAL   Proc Natl Acad Sci U S A 82 (7), 1974-1978 (1985)
   PUBMED   2984676
REFERENCE   10 (residues 1 to 912)
  AUTHORS   Busch,H. and Eisenhart-Rothe,B.V.
  TITLE     [Old and new dangers of blood transfusion (author's transl)]
  JOURNAL   MMW Munch Med Wochenschr 118 (22), 713-718 (1976)
   PUBMED   5668
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355053.4, X75756.1,
            CN412379.1 and BX645735.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 5, 2006 this sequence version replaced NP_002733.1.
            
            Summary: The protein encoded by this gene is a serine/threonine
            protein kinase involved in many cellular processes, including Golgi
            body membrane integrity and transport, cell migration and
            differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3
            (ERK1/2) pathway signaling, cell survival, and regulation of cell
            shape and adhesion. [provided by RefSeq, Jan 2017].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region compared to variant 1. The encoded
            isoform (2) is shorter than isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X75756.1, AK314170.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331968.11/ ENSP00000333568.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..912
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     Protein         1..912
                     /product="serine/threonine-protein kinase D1 isoform 2"
                     /EC_number="2.7.11.13"
                     /note="protein kinase C, mu; serine/threonine-protein
                     kinase D1; nPKC-D1; nPKC-mu; protein kinase C mu type"
                     /calculated_mol_wt=101574
     Site            95
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:17804414; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Region          140..211
                     /region_name="C1_PKD1_rpt1"
                     /note="first protein kinase C conserved region 1 (C1
                     domain) found in protein kinase D (PKD) and similar
                     proteins; cd20839"
                     /db_xref="CDD:410389"
     Site            order(152..158,166..170,173)
                     /site_type="other"
                     /note="putative DAG/PE binding site [chemical binding]"
                     /db_xref="CDD:410389"
     Site            205
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Site            208
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Site            219
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BZ03; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Site            223
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9BZL6; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Region          237..330
                     /region_name="C1_PKD1_rpt2"
                     /note="second protein kinase C conserved region 1 (C1
                     domain) found in protein kinase D (PKD) and similar
                     proteins; cd20842"
                     /db_xref="CDD:410392"
     Site            order(276..282,290..294,297)
                     /site_type="other"
                     /note="putative DAG/PE binding site [chemical binding]"
                     /db_xref="CDD:410392"
     Site            345
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Region          377..402
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15139.2)"
     Site            397
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK13.
                     /evidence=ECO:0000269|PubMed:19135240; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Site            401
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK13.
                     /evidence=ECO:0000269|PubMed:19135240; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Region          416..543
                     /region_name="PH_PKD"
                     /note="Protein kinase D (PKD/PKCmu) pleckstrin homology
                     (PH) domain; cd01239"
                     /db_xref="CDD:269945"
     Site            432
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:12637538; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Site            448
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Site            463
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by ABL.
                     /evidence=ECO:0000269|PubMed:12637538,
                     ECO:0000269|PubMed:15024053; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Site            473
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Site            502
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:12637538; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Site            548
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K1Y2; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Region          579..838
                     /region_name="STKc_PKD"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Protein Kinase D; cd14082"
                     /db_xref="CDD:270984"
     Site            order(589..593,597,610,612,643,659..662,665,667,705..706,
                     708,710..711,713,726..727,730,744..748,750)
                     /site_type="active"
                     /db_xref="CDD:270984"
     Site            order(589..592,597,610,612,643,659..662,665,710..711,713,
                     726..727)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270984"
     Site            order(593,665,667,705..706,708,710,730,744..748,750)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270984"
     Site            726..748
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270984"
     Site            738
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKC/PRKCD.
                     /evidence=ECO:0000269|PubMed:15024053; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Site            742
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by autocatalysis and PKC/PRKCD.
                     /evidence=ECO:0000269|PubMed:15024053; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Site            749
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q9BZL6; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     Site            910
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:17703233; propagated from
                     UniProtKB/Swiss-Prot (Q15139.2)"
     CDS             1..912
                     /gene="PRKD1"
                     /gene_synonym="CHDED; PKC-MU; PKCM; PKD; PRKCM"
                     /coded_by="NM_002742.3:336..3074"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS9637.1"
                     /db_xref="GeneID:5587"
                     /db_xref="HGNC:HGNC:9407"
                     /db_xref="MIM:605435"
ORIGIN      
        1 msappvlrpp spllpvaaaa aaaaaalvpg sgpgpapfla pvaapvggis fhlqiglsre
       61 pvlllqdssg dyslahvrem acsivdqkfp ecgfygmydk illfrhdpts enilqlvkaa
      121 sdiqegdlie vvlsasatfe dfqirphalf vhsyrapafc dhcgemlwgl vrqglkcegc
      181 glnyhkrcaf kipnncsgvr rrrlsnvslt gvstirtssa elstsapdep llqkspsesf
      241 igrekrsnsq syigrpihld kilmskvkvp htfvihsytr ptvcqyckkl lkglfrqglq
      301 ckdcrfnchk rcapkvpnnc lgevtingdl lspgaesdvv meegsddnds ernsglmddm
      361 eeamvqdaem amaecqndsg emqdpdpdhe danrtispst snniplmrvv qsvkhtkrks
      421 stvmkegwmv hytskdtlrk rhywrldskc itlfqndtgs ryykeiplse ilslepvkts
      481 alipnganph cfeittanvv yyvgenvvnp sspspnnsvl tsgvgadvar mweiaiqhal
      541 mpvipkgssv gtgtnlhrdi svsisvsncq iqenvdistv yqifpdevlg sgqfgivygg
      601 khrktgrdva ikiidklrfp tkqesqlrne vailqnlhhp gvvnlecmfe tpervfvvme
      661 klhgdmlemi lssekgrlpe hitkflitqi lvalrhlhfk nivhcdlkpe nvllasadpf
      721 pqvklcdfgf ariigeksfr rsvvgtpayl apevlrnkgy nrsldmwsvg viiyvslsgt
      781 fpfnededih dqiqnaafmy ppnpwkeish eaidlinnll qvkmrkrysv dktlshpwlq
      841 dyqtwldlre leckigeryi thesddlrwe kyageqglqy pthlinpsas hsdtpeteet
      901 emkalgervs il
//
LOCUS       NP_001138758             420 aa            linear   PRI 03-APR-2023
DEFINITION  mu-type opioid receptor isoform MOR-1B5 [Homo sapiens].
ACCESSION   NP_001138758
VERSION     NP_001138758.1
DBSOURCE    REFSEQ: accession NM_001145286.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 420)
  AUTHORS   Vidic Z, Goricar K, Strazisar B, Besic N and Dolzan V.
  TITLE     Association of OPRM1, MIR23B, and MIR107 genetic variability with
            acute pain, chronic pain and adverse effects after postoperative
            tramadol and paracetamol treatment in breast cancer
  JOURNAL   Radiol Oncol 57 (1), 111-120 (2023)
   PUBMED   36942908
  REMARK    GeneRIF: Association of OPRM1, MIR23B, and MIR107 genetic
            variability with acute pain, chronic pain and adverse effects after
            postoperative tramadol and paracetamol treatment in breast cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 420)
  AUTHORS   Firfirey F, Shamley D and September AV.
  TITLE     Polymorphisms in COMT and OPRM1 Collectively Contribute to Chronic
            Shoulder Pain and Disability in South African Breast Cancer
            Survivors'
  JOURNAL   Genes (Basel) 14 (1), 9 (2022)
   PUBMED   36672750
  REMARK    GeneRIF: Polymorphisms in COMT and OPRM1 Collectively Contribute to
            Chronic Shoulder Pain and Disability in South African Breast Cancer
            Survivors'.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 420)
  AUTHORS   Tour J, Sandstrom A, Kadetoff D, Schalling M and Kosek E.
  TITLE     The OPRM1 gene and interactions with the 5-HT1a gene regulate
            conditioned pain modulation in fibromyalgia patients and healthy
            controls
  JOURNAL   PLoS One 17 (11), e0277427 (2022)
   PUBMED   36342939
  REMARK    GeneRIF: The OPRM1 gene and interactions with the 5-HT1a gene
            regulate conditioned pain modulation in fibromyalgia patients and
            healthy controls.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 420)
  AUTHORS   Andersen S, Baar C, Fladvad T, Laugsand EA and Skorpen F.
  TITLE     The N-terminally truncated micro3 and micro3-like opioid receptors
            are transcribed from a novel promoter upstream of exon 2 in the
            human OPRM1 gene
  JOURNAL   PLoS One 8 (8), e71024 (2013)
   PUBMED   23951073
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 420)
  AUTHORS   Kasai S and Ikeda K.
  TITLE     Pharmacogenomics of the human micro-opioid receptor
  JOURNAL   Pharmacogenomics 12 (9), 1305-1320 (2011)
   PUBMED   21919606
  REMARK    GeneRIF: this article summarizes the genetic variations in the
            human OPRM1 gene, which are analyzed with regard to pain
            sensitivity, opioid drug sensitivity and susceptibility to drug
            dependence, and other disorders.[Review]
            Review article
REFERENCE   6  (residues 1 to 420)
  AUTHORS   Song KY, Kim CS, Hwang CK, Choi HS, Law PY, Wei LN and Loh HH.
  TITLE     uAUG-mediated translational initiations are responsible for human
            mu opioid receptor gene expression
  JOURNAL   J Cell Mol Med 14 (5), 1113-1124 (2010)
   PUBMED   19438807
  REMARK    GeneRIF: These results indicate that re-initiation in MOR gene
            expression could play an important role in OPRM1 regulation.
REFERENCE   7  (residues 1 to 420)
  AUTHORS   Xu J, Xu M, Hurd YL, Pasternak GW and Pan YX.
  TITLE     Isolation and characterization of new exon 11-associated N-terminal
            splice variants of the human mu opioid receptor gene
  JOURNAL   J Neurochem 108 (4), 962-972 (2009)
   PUBMED   19077058
REFERENCE   8  (residues 1 to 420)
  AUTHORS   Chuang TK, Killam KF Jr, Chuang LF, Kung HF, Sheng WS, Chao CC, Yu
            L and Chuang RY.
  TITLE     Mu opioid receptor gene expression in immune cells
  JOURNAL   Biochem Biophys Res Commun 216 (3), 922-930 (1995)
   PUBMED   7488213
REFERENCE   9  (residues 1 to 420)
  AUTHORS   Mestek A, Hurley JH, Bye LS, Campbell AD, Chen Y, Tian M, Liu J,
            Schulman H and Yu L.
  TITLE     The human mu opioid receptor: modulation of functional
            desensitization by calcium/calmodulin-dependent protein kinase and
            protein kinase C
  JOURNAL   J Neurosci 15 (3 Pt 2), 2396-2406 (1995)
   PUBMED   7891175
REFERENCE   10 (residues 1 to 420)
  AUTHORS   Maneckjee R and Minna JD.
  TITLE     Opioid and nicotine receptors affect growth regulation of human
            lung cancer cell lines
  JOURNAL   Proc Natl Acad Sci U S A 87 (9), 3294-3298 (1990)
   PUBMED   2159143
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136444.16 and AL132774.20.
            
            Summary: This gene encodes one of at least three opioid receptors
            in humans; the mu opioid receptor (MOR). The MOR is the principal
            target of endogenous opioid peptides and opioid analgesic agents
            such as beta-endorphin and enkephalins. The MOR also has an
            important role in dependence to other drugs of abuse, such as
            nicotine, cocaine, and alcohol via its modulation of the dopamine
            system. The NM_001008503.2:c.118A>G allele has been associated with
            opioid and alcohol addiction and variations in pain sensitivity but
            evidence for it having a causal role is conflicting. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. Though the canonical MOR belongs to the superfamily of
            7-transmembrane-spanning G-protein-coupled receptors some isoforms
            of this gene have only 6 transmembrane domains. [provided by
            RefSeq, Oct 2013].
            
            Sequence Note:.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY309008.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968540,
                                           SAMEA2145544 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..420
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.2"
     Protein         1..420
                     /product="mu-type opioid receptor isoform MOR-1B5"
                     /note="mu opiate receptor; mu opioid receptor hMOR-1a"
                     /calculated_mol_wt=46939
     Site            9
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35372.2)"
     Site            12
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35372.2)"
     Site            33
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35372.2)"
     Site            40
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35372.2)"
     Site            48
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35372.2)"
     Site            69..93
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2)"
     Region          71..349
                     /region_name="7tmA_Mu_opioid_R"
                     /note="opioid receptor subtype mu, member of the class A
                     family of seven-transmembrane G protein-coupled receptors;
                     cd15090"
                     /db_xref="CDD:320218"
     Region          72..98
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320218"
     Region          105..131
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320218"
     Site            107..131
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2)"
     Site            order(126,129..130,142..147,149..150,153,198,200..204,231,
                     234..236,238..240,242..243,295,298..299,301..302,305,
                     316..317,319..321,324,327..328)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320218"
     Region          142..172
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320218"
     Site            143..165
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2)"
     Site            168
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P33535; propagated from
                     UniProtKB/Swiss-Prot (P35372.2)"
     Region          184..206
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320218"
     Site            186..207
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2)"
     Region          231..260
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320218"
     Site            231..255
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2)"
     Region          275..305
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320218"
     Site            280..306
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2)"
     Site            315..338
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2)"
     Region          317..342
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320218"
     Region          334..338
                     /region_name="NPxxY, plays a role in stabilizing the
                     activated conformation of the receptor.
                     /evidence=ECO:0000250|UniProtKB:P42866"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2)"
     Site            365
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P42866; propagated from
                     UniProtKB/Swiss-Prot (P35372.2)"
     Site            372
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P33535; propagated from
                     UniProtKB/Swiss-Prot (P35372.2)"
     Site            377
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P33535; propagated from
                     UniProtKB/Swiss-Prot (P35372.2)"
     CDS             1..420
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /coded_by="NM_001145286.3:306..1568"
                     /note="isoform MOR-1B5 is encoded by transcript variant
                     MOR-1B5"
                     /db_xref="CCDS:CCDS47507.1"
                     /db_xref="GeneID:4988"
                     /db_xref="HGNC:HGNC:8156"
                     /db_xref="MIM:600018"
ORIGIN      
        1 mdssaaptna snctdalays scspapspgs wvnlshldgn lsdpcgpnrt dlggrdslcp
       61 ptgspsmita itimalysiv cvvglfgnfl vmyvivrytk mktatniyif nlaladalat
      121 stlpfqsvny lmgtwpfgti lckivisidy ynmftsiftl ctmsvdryia vchpvkaldf
      181 rtprnakiin vcnwilssai glpvmfmatt kyrqgsidct ltfshptwyw enllkicvfi
      241 fafimpvlii tvcyglmilr lksvrmlsgs kekdrnlrri trmvlvvvav fivcwtpihi
      301 yviikalvti pettfqtvsw hfcialgytn sclnpvlyaf ldenfkrcfr efciptssni
      361 eqqnstrirq ntrdhpstan tvdrtnhqve lnldchcena kpwplsynag qspfpfpgrv
//
LOCUS       NP_001356401             416 aa            linear   PRI 17-APR-2023
DEFINITION  nuclear factor 1 B-type isoform 19 [Homo sapiens].
ACCESSION   NP_001356401 XP_016870229
VERSION     NP_001356401.1
DBSOURCE    REFSEQ: accession NM_001369472.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 416)
  AUTHORS   Gana S, Serpieri V, Giorgio E, Iorio M, Rognone E, Pichiecchio A,
            Chiappedi M and Valente EM.
  TITLE     Marked intrafamilial variability of clinical and neuroimaging
            manifestations in NFIB-related developmental disorder
  JOURNAL   Am J Med Genet A 191 (5), 1395-1400 (2023)
   PUBMED   36756855
  REMARK    GeneRIF: Marked intrafamilial variability of clinical and
            neuroimaging manifestations in NFIB-related developmental disorder.
REFERENCE   2  (residues 1 to 416)
  AUTHORS   Zhou L, Mao LH, Li X, Wang QL, Chen SY, Chen ZJ, Lei J, Liu HT,
            Liao SQ, Ran T, Li XQ, Zhou ZH and He S.
  TITLE     Transcriptional regulation of NDUFA4L2 by NFIB induces sorafenib
            resistance by decreasing reactive oxygen species in hepatocellular
            carcinoma
  JOURNAL   Cancer Sci 114 (3), 793-805 (2023)
   PUBMED   36369883
  REMARK    GeneRIF: Transcriptional regulation of NDUFA4L2 by NFIB induces
            sorafenib resistance by decreasing reactive oxygen species in
            hepatocellular carcinoma.
REFERENCE   3  (residues 1 to 416)
  AUTHORS   Sheng H and Wang X.
  TITLE     Knockdown of circ-PIP5K1A overcomes resistance to cisplatin in
            ovarian cancer by miR-942-5p/NFIB axis
  JOURNAL   Anticancer Drugs 34 (2), 214-226 (2023)
   PUBMED   36730637
  REMARK    GeneRIF: Knockdown of circ-PIP5K1A overcomes resistance to
            cisplatin in ovarian cancer by miR-942-5p/NFIB axis.
REFERENCE   4  (residues 1 to 416)
  AUTHORS   Lenk HC, Lovsletten Smith R, O'Connell KS, Jukic MM, Kringen MK,
            Andreassen OA, Ingelman-Sundberg M and Molden E.
  TITLE     Impact of NFIB and CYP1A variants on clozapine serum
            concentration-A retrospective naturalistic cohort study on 526
            patients with known smoking habits
  JOURNAL   Clin Transl Sci 16 (1), 62-72 (2023)
   PUBMED   36152308
  REMARK    GeneRIF: Impact of NFIB and CYP1A variants on clozapine serum
            concentration-A retrospective naturalistic cohort study on 526
            patients with known smoking habits.
REFERENCE   5  (residues 1 to 416)
  AUTHORS   Lou C, Shi J and Xu Q.
  TITLE     Exosomal miR-626 promotes the malignant behavior of oral cancer
            cells by targeting NFIB
  JOURNAL   Mol Biol Rep 49 (6), 4829-4840 (2022)
   PUBMED   35711020
  REMARK    GeneRIF: Exosomal miR-626 promotes the malignant behavior of oral
            cancer cells by targeting NFIB.
REFERENCE   6  (residues 1 to 416)
  AUTHORS   Mukhopadhyay SS and Rosen JM.
  TITLE     The C-terminal domain of the nuclear factor I-B2 isoform is
            glycosylated and transactivates the WAP gene in the JEG-3 cells
  JOURNAL   Biochem Biophys Res Commun 358 (3), 770-776 (2007)
   PUBMED   17511965
  REMARK    GeneRIF: C-terminal domain of the nuclear factor I-B2 isoform is
            glycosylated and transactivates the WAP gene in tumor cells
REFERENCE   7  (residues 1 to 416)
  AUTHORS   Sheeter D, Du P, Rought S, Richman D and Corbeil J.
  TITLE     Surface CD4 expression modulated by a cellular factor induced by
            HIV type 1 infection
  JOURNAL   AIDS Res Hum Retroviruses 19 (2), 117-123 (2003)
   PUBMED   12639247
  REMARK    GeneRIF: expression of NFI-B2 impairs CD4 transcription on
            CDd4-positive primary T-lymphocytes and cell lines in HIV-1
            infection
REFERENCE   8  (residues 1 to 416)
  AUTHORS   Geurts JM, Schoenmakers EF, Roijer E, Astrom AK, Stenman G and van
            de Ven WJ.
  TITLE     Identification of NFIB as recurrent translocation partner gene of
            HMGIC in pleomorphic adenomas
  JOURNAL   Oncogene 16 (7), 865-872 (1998)
   PUBMED   9484777
REFERENCE   9  (residues 1 to 416)
  AUTHORS   Liu Y, Bernard HU and Apt D.
  TITLE     NFI-B3, a novel transcriptional repressor of the nuclear factor I
            family, is generated by alternative RNA processing
  JOURNAL   J Biol Chem 272 (16), 10739-10745 (1997)
   PUBMED   9099724
REFERENCE   10 (residues 1 to 416)
  AUTHORS   Qian F, Kruse U, Lichter P and Sippel AE.
  TITLE     Chromosomal localization of the four genes (NFIA, B, C, and X) for
            the human transcription factor nuclear factor I by FISH
  JOURNAL   Genomics 28 (1), 66-73 (1995)
   PUBMED   7590749
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL136366.24 and AL441963.7.
            On Apr 10, 2019 this sequence version replaced XP_016870229.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853559.31767.1,
                                           SRR14372080.3944111.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..416
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p23-p22.3"
     Protein         1..416
                     /product="nuclear factor 1 B-type isoform 19"
                     /note="nuclear factor 1 B-type; nuclear factor 1/B;
                     TGGCA-binding protein; CCAAT-box-binding transcription
                     factor"
                     /calculated_mol_wt=46854
     Region          3..43
                     /region_name="NfI_DNAbd_pre-N"
                     /note="Nuclear factor I protein pre-N-terminus; pfam10524"
                     /db_xref="CDD:371114"
     Region          65..169
                     /region_name="MH1"
                     /note="N-terminal Mad Homology 1 (MH1) domain; cl00055"
                     /db_xref="CDD:412134"
     Region          185..204
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00712.2)"
     Region          205..>411
                     /region_name="CTF_NFI"
                     /note="CTF/NF-I family transcription modulation region;
                     pfam00859"
                     /db_xref="CDD:425913"
     Region          248..360
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00712.2)"
     Site            260
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Site            282
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P97863; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Site            288
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Site            291
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Site            308
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Site            324
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O00712.2)"
     Site            329
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Site            331
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:P97863; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Region          373..416
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00712.2)"
     Site            384
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:P97863; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Region          393..401
                     /region_name="9aaTAD.
                     /evidence=ECO:0000269|PubMed:31375868"
                     /note="propagated from UniProtKB/Swiss-Prot (O00712.2)"
     CDS             1..416
                     /gene="NFIB"
                     /gene_synonym="CTF; HMGIC/NFIB; MACID; NF-I/B; NF1-B;
                     NFI-B; NFI-RED; NFIB2; NFIB3"
                     /coded_by="NM_001369472.1:430..1680"
                     /note="isoform 19 is encoded by transcript variant 19"
                     /db_xref="CCDS:CCDS94388.1"
                     /db_xref="GeneID:4781"
                     /db_xref="HGNC:HGNC:7785"
                     /db_xref="MIM:600728"
ORIGIN      
        1 mqysamdefh pfieallphv raiaytwfnl qarkrkyfkk hekrmskdee ravkdellse
       61 kpeikqkwas rllaklrkdi rqeyredfvl tvtgkkhpcc vlsnpdqkgk irridclrqa
      121 dkvwrldlvm vilfkgiple stdgerlmks phctnpalcv qphhitvsvk eldlflayyv
      181 qeqdsgqsgs pshndpaknp pgyledsfvk sgvfnvselv rvsrtpitqg tgvnfpigei
      241 psqpyyhdmn sgvnlqrsls sppsskrpkt isidenmeps ptgdfypsps spaagsrtwh
      301 erdqdmsspt tmkkpekplf ssaspqdssp rlstfpqhhh pgipgvahsv istrtpppps
      361 plpfptqail ppapssyfsh ptirypphln pqdtlknyvp sydpsspqts qswylg
//
LOCUS       NP_001185554             577 aa            linear   PRI 14-DEC-2022
DEFINITION  protein CBFA2T1 isoform A [Homo sapiens].
ACCESSION   NP_001185554
VERSION     NP_001185554.1
DBSOURCE    REFSEQ: accession NM_001198625.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 577)
  AUTHORS   Hwang SM, Kim BJ, Lee JS, Seong MW, Seo SH, Paik JH, Kim SA, Lee
            JY, Lee JO, Chang YH and Bang SM.
  TITLE     Immunohistochemical Staining to Identify Concomitant Systemic
            Mastocytosis in Acute Myeloid Leukemia with RUNX1::RUNX1T1
  JOURNAL   Ann Lab Med 42 (6), 678-682 (2022)
   PUBMED   35765876
  REMARK    GeneRIF: Immunohistochemical Staining to Identify Concomitant
            Systemic Mastocytosis in Acute Myeloid Leukemia with
            RUNX1::RUNX1T1.
REFERENCE   2  (residues 1 to 577)
  AUTHORS   Hu N, Zou L, Wang C and Song G.
  TITLE     RUNX1T1 function in cell fate
  JOURNAL   Stem Cell Res Ther 13 (1), 369 (2022)
   PUBMED   35902872
  REMARK    GeneRIF: RUNX1T1 function in cell fate.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 577)
  AUTHORS   Dai Z, Luo H, Chen J and Li L.
  TITLE     MiR-210-3p accelerates tumor-relevant cell functions of endometrial
            carcinoma by repressing RUNX1T1
  JOURNAL   Mutat Res 825, 111793 (2022)
   PUBMED   35963185
  REMARK    GeneRIF: MiR-210-3p accelerates tumor-relevant cell functions of
            endometrial carcinoma by repressing RUNX1T1.
REFERENCE   4  (residues 1 to 577)
  AUTHORS   Kumar P, Verma V, Mohania D, Gupta S, Babbar AK, Rathi B, Dhanda RS
            and Yadav M.
  TITLE     Leukemia associated RUNX1T1 gene reduced proliferation and
            invasiveness of glioblastoma cells
  JOURNAL   J Cell Biochem 122 (11), 1737-1748 (2021)
   PUBMED   34369622
  REMARK    GeneRIF: Leukemia associated RUNX1T1 gene reduced proliferation and
            invasiveness of glioblastoma cells.
REFERENCE   5  (residues 1 to 577)
  AUTHORS   Morohoshi F, Mitani S, Mitsuhashi N, Kitabayashi I, Takahashi E,
            Suzuki M, Munakata N and Ohki M.
  TITLE     Structure and expression pattern of a human MTG8/ETO family gene,
            MTGR1
  JOURNAL   Gene 241 (2), 287-295 (2000)
   PUBMED   10675041
REFERENCE   6  (residues 1 to 577)
  AUTHORS   Calabi F and Cilli V.
  TITLE     CBFA2T1, a gene rearranged in human leukemia, is a member of a
            multigene family
  JOURNAL   Genomics 52 (3), 332-341 (1998)
   PUBMED   9790752
REFERENCE   7  (residues 1 to 577)
  AUTHORS   Wolford JK and Prochazka M.
  TITLE     Structure and expression of the human MTG8/ETO gene
  JOURNAL   Gene 212 (1), 103-109 (1998)
   PUBMED   9661669
REFERENCE   8  (residues 1 to 577)
  AUTHORS   Era T, Asou N, Kunisada T, Yamasaki H, Asou H, Kamada N, Nishikawa
            S, Yamaguchi K and Takatsuki K.
  TITLE     Identification of two transcripts of AML1/ETO-fused gene in t(8;21)
            leukemic cells and expression of wild-type ETO gene in
            hematopoietic cells
  JOURNAL   Genes Chromosomes Cancer 13 (1), 25-33 (1995)
   PUBMED   7541640
REFERENCE   9  (residues 1 to 577)
  AUTHORS   van de Locht LT, Smetsers TF, Wittebol S, Raymakers RA and Mensink
            EJ.
  TITLE     Molecular diversity in AML1/ETO fusion transcripts in patients with
            t(8;21) positive acute myeloid leukaemia
  JOURNAL   Leukemia 8 (10), 1780-1784 (1994)
   PUBMED   7523801
REFERENCE   10 (residues 1 to 577)
  AUTHORS   Nisson PE, Watkins PC and Sacchi N.
  TITLE     Transcriptionally active chimeric gene derived from the fusion of
            the AML1 gene and a novel gene on chromosome 8 in t(8;21) leukemic
            cells
  JOURNAL   Cancer Genet Cytogenet 63 (2), 81-88 (1992)
   PUBMED   1423235
  REMARK    Erratum:[Cancer Genet Cytogenet. 1993 Mar;66(1):81. PMID: 8467483]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA503204.1, AC104339.10,
            AK312592.1, AF181450.5 and AC103680.2.
            
            Summary: This gene encodes a member of the myeloid translocation
            gene family which interact with DNA-bound transcription factors and
            recruit a range of corepressors to facilitate transcriptional
            repression. The t(8;21)(q22;q22) translocation is one of the most
            frequent karyotypic abnormalities in acute myeloid leukemia. The
            translocation produces a chimeric gene made up of the 5'-region of
            the runt-related transcription factor 1 gene fused to the 3'-region
            of this gene. The chimeric protein is thought to associate with the
            nuclear corepressor/histone deacetylase complex to block
            hematopoietic differentiation. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Nov 2010].
            
            Transcript Variant: This variant (5) utilizes four alternate exons
            in the 5' UTR compared to variant 1. Variants 1, 5 and 6 all encode
            isoform A, also known as MTG8a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK312592.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..577
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.3"
     Protein         1..577
                     /product="protein CBFA2T1 isoform A"
                     /note="core-binding factor, runt domain, alpha subunit 2;
                     translocated to, 1; cyclin D-related; acute myelogenous
                     leukemia 1 translocation 1, cyclin-D related; myeloid
                     translocation gene on 8q22; RUNX1 translocation partner 1;
                     eight twenty one protein; zinc finger MYND
                     domain-containing protein 2; runt related transcription
                     factor 1; translocated to, 1 (cyclin D related)"
                     /calculated_mol_wt=64265
     Region          95..184
                     /region_name="TAFH"
                     /note="NHR1 homology to TAF; pfam07531"
                     /db_xref="CDD:429517"
     Region          310..376
                     /region_name="NHR2"
                     /note="NHR2 domain like; pfam08788"
                     /db_xref="CDD:430219"
     Region          416..>487
                     /region_name="NtpE"
                     /note="Archaeal/vacuolar-type H+-ATPase subunit E/Vma4
                     [Energy production and conversion]; COG1390"
                     /db_xref="CDD:224308"
     Region          488..524
                     /region_name="zf-MYND"
                     /note="MYND finger; pfam01753"
                     /db_xref="CDD:426410"
     CDS             1..577
                     /gene="RUNX1T1"
                     /gene_synonym="AML1-MTG8; AML1T1; CBFA2T1; CDR; ETO; MTG8;
                     ZMYND2"
                     /coded_by="NM_001198625.2:585..2318"
                     /note="isoform A is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS47891.1"
                     /db_xref="GeneID:862"
                     /db_xref="HGNC:HGNC:1535"
                     /db_xref="MIM:133435"
ORIGIN      
        1 mpdrtekhst mpdspvdvkt qsrltpptmp pppttqgapr tssftpttlt ngtshsptal
       61 ngapsppngf sngpssssss slanqqlppa cgarqlsklk rflttlqqfg ndispeiger
      121 vrtlvlglvn stltieefhs klqeatnfpl rpfvipflka nlpllqrell hcarlakqnp
      181 aqylaqheql lldasttspv dssellldvn engkrrtpdr tkengfdrep lhsehpskrp
      241 ctispgqrys pnnglsyqpn glphptpppp qhyrlddmai ahhyrdsyrh pshrdlrdrn
      301 rpmglhgtrq eemidhrltd rewaeewkhl dhllncimdm vektrrsltv lrrcqeadre
      361 elnywirrys daedlkkggg sssshsrqqs pvnpdpvald ahreflhrpa sgyvpeeiwk
      421 kaeeavnevk rqamtelqka vseaerkahd mitterakme rtvaeakrqa aedalavinq
      481 qedssescwn cgrkasetcs gcntarycgs fcqhkdwekh hhicgqtlqa qqqgdtpavs
      541 ssvtpnsgag spmdtppaat prsttpgtps tiettpr
//
LOCUS       NP_036259                898 aa            linear   PRI 18-DEC-2022
DEFINITION  cip1-interacting zinc finger protein isoform 1 [Homo sapiens].
ACCESSION   NP_036259
VERSION     NP_036259.2
DBSOURCE    REFSEQ: accession NM_012127.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 898)
  AUTHORS   Chen YR, Wu YS, Wang WS, Zhang JS and Wu QG.
  TITLE     Upregulation of lncRNA DANCR functions as an oncogenic role in
            non-small lung cancer by regulating miR-214-5p/CIZ1 axis
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (5), 2539-2547 (2020)
   PUBMED   32196604
  REMARK    GeneRIF: Upregulation of lncRNA DANCR functions as an oncogenic
            role in non-small lung cancer by regulating miR-214-5p/CIZ1 axis.
REFERENCE   2  (residues 1 to 898)
  AUTHORS   Chen X, Wang P, Wang S, Li J, Ou T and Zeng X.
  TITLE     CIZ1 knockdown suppresses the proliferation of bladder cancer cells
            by inducing apoptosis
  JOURNAL   Gene 719, 143946 (2019)
   PUBMED   31252164
  REMARK    GeneRIF: silencing of CIZ1 suppressed bladder cancer cell
            proliferation through inducing apoptosis and reducing cell cycle
            progression
REFERENCE   3  (residues 1 to 898)
  AUTHORS   Wang Y, Li X, Zhang J, Liu Q, Gao P, Li D, Zhang S and Liu J.
  TITLE     CIZ1 Expression Is Upregulated in Hemangioma of the Tongue
  JOURNAL   Pathol Oncol Res 25 (4), 1653-1658 (2019)
   PUBMED   30456533
  REMARK    GeneRIF: High CIZ1 expression is associated with Hemangioma of the
            Tongue.
REFERENCE   4  (residues 1 to 898)
  AUTHORS   Sunwoo H, Colognori D, Froberg JE, Jeon Y and Lee JT.
  TITLE     Repeat E anchors Xist RNA to the inactive X chromosomal compartment
            through CDKN1A-interacting protein (CIZ1)
  JOURNAL   Proc Natl Acad Sci U S A 114 (40), 10654-10659 (2017)
   PUBMED   28923964
  REMARK    GeneRIF: data reveal that CIZ1 plays a major role in ensuring
            stable association of Xist RNA within the Xi territory.
REFERENCE   5  (residues 1 to 898)
  AUTHORS   Lei L, Wu J, Gu D, Liu H and Wang S.
  TITLE     CIZ1 interacts with YAP and activates its transcriptional activity
            in hepatocellular carcinoma cells
  JOURNAL   Tumour Biol 37 (8), 11073-11079 (2016)
   PUBMED   26906552
  REMARK    GeneRIF: our study demonstrated that CIZ1 is a positive regulator
            of YAP signaling, and CIZ1 might be a therapeutic target for
            hepatocellular carcinoma
REFERENCE   6  (residues 1 to 898)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   7  (residues 1 to 898)
  AUTHORS   Coverley D, Marr J and Ainscough J.
  TITLE     Ciz1 promotes mammalian DNA replication
  JOURNAL   J Cell Sci 118 (Pt 1), 101-112 (2005)
   PUBMED   15585571
REFERENCE   8  (residues 1 to 898)
  AUTHORS   Warder DE and Keherly MJ.
  TITLE     Ciz1, Cip1 interacting zinc finger protein 1 binds the consensus
            DNA sequence ARYSR(0-2)YYAC
  JOURNAL   J Biomed Sci 10 (4), 406-417 (2003)
   PUBMED   12824700
  REMARK    GeneRIF: data indicate that Ciz1 is localized in the nucleus and is
            expressed in a wide range of tissues, especially the pancreas and
            the brain; formulated a consensus DNA sequence, ARYSR(0-2)YYAC,
            recognized by Ciz1
REFERENCE   9  (residues 1 to 898)
  AUTHORS   Mitsui K, Matsumoto A, Ohtsuka S, Ohtsubo M and Yoshimura A.
  TITLE     Cloning and characterization of a novel p21(Cip1/Waf1)-interacting
            zinc finger protein, ciz1
  JOURNAL   Biochem Biophys Res Commun 264 (2), 457-464 (1999)
   PUBMED   10529385
REFERENCE   10 (residues 1 to 898)
  AUTHORS   Gilley J and Fried M.
  TITLE     Extensive gene order differences within regions of conserved
            synteny between the Fugu and human genomes: implications for
            chromosomal evolution and the cloning of disease genes
  JOURNAL   Hum Mol Genet 8 (7), 1313-1320 (1999)
   PUBMED   10369878
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK023978.1, AF159025.1 and
            BC021163.2.
            On Feb 13, 2004 this sequence version replaced NP_036259.1.
            
            Summary: The protein encoded by this gene is a zinc finger DNA
            binding protein that interacts with CIP1, part of a complex with
            cyclin E. The encoded protein may regulate the cellular
            localization of CIP1. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Apr 2012].
            
            Transcript Variant: This variant (1) has an alternate exon in place
            of the first exon and lacks an alternate in-frame exon compared to
            variant 6. The resulting isoform (1) is shorter at the N-terminus
            and lacks an alternate internal segment compared to isoform 5.
            Variants 1 and 5 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.24636.1,
                                           SRR1803616.130338.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..898
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     Protein         1..898
                     /product="cip1-interacting zinc finger protein isoform 1"
                     /note="zinc finger protein 356; nuclear protein NP94;
                     Cip1-interacting zinc finger protein"
                     /calculated_mol_wt=99915
     Region          48..69
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULV3.2)"
     Region          <129..482
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          157..305
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULV3.2)"
     Site            209
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9ULV3.2)"
     Site            244
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9ULV3.2)"
     Region          318..471
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULV3.2)"
     Site            350
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9ULV3.2)"
     Site            547
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9ULV3.2)"
     Region          562..584
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULV3.2)"
     Site            567
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9ULV3.2)"
     Region          592..621
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     Region          656..676
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Site            order(663..665,666,670,675,692,695..699,701..702)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275371"
     Region          <666..>717
                     /region_name="UFD2"
                     /note="U1-like Zn-finger-containing protein [General
                     function prediction only]; COG5112"
                     /db_xref="CDD:227443"
     Region          686..710
                     /region_name="zf-C2H2_jaz"
                     /note="Zinc-finger double-stranded RNA-binding; pfam12171"
                     /db_xref="CDD:403410"
     Region          687..709
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Site            821
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9ULV3.2)"
     Site            838
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9ULV3.2)"
     Region          859..898
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULV3.2)"
     CDS             1..898
                     /gene="CIZ1"
                     /gene_synonym="LSFR1; NP94; ZNF356"
                     /coded_by="NM_012127.3:43..2739"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS6894.1"
                     /db_xref="GeneID:25792"
                     /db_xref="HGNC:HGNC:16744"
                     /db_xref="MIM:611420"
ORIGIN      
        1 mfsqqqqqql qqqqqqlqql qqqqlqqqql qqqqllqlqq llqqsppqap lpmavsrglp
       61 pqqpqqplln lqgtnsasll ngsmlqrall lqqlqgldqf amppatydta gltmptatlg
      121 nlrgygmasp glaapsltpp qlatpnlqqf fpqatrqsll gpppvgvpmn psqfnlsgrn
      181 pqkqartsss ttpnrkdsss qtmpvedksd ppegseeaae prmdtpedqd lppcpediak
      241 ekrtpapepe pceaselpak rlrsseepte keppgqlqvk aqpqarmtvp kqtqtpdllp
      301 ealeaqvlpr fqprvlqvqa qvqsqtqpri pstdtqvqpk lqkqaqtqts pehlvlqqkq
      361 vqpqlqqeae pqkqvqpqvq pqahsqgprq vqlqqeaepl kqvqpqvqpq ahsqpprqvq
      421 lqlqkqvqtq typqvhtqaq psvqpqehpp aqvsvqppeq theqphtqpq vsllapeqtp
      481 vvvhvcglem ppdaveaggg mektlpepvg tqvsmeeiqn esacgldvge cenrarempg
      541 vwgaggslkv tilqssdsra fstvpltpvp rpsdsvsstp aatstpskqa lqffcyicka
      601 scssqqefqd hmsepqhqqr lgeiqhmsqa cllsllpvpr dvletedeep pprrwcntcq
      661 lyymgdliqh rrtqdhkiak qslrpfctvc nryfktprkf vehvksqghk dkakelksle
      721 keiagqdedh fitvdavgcf egdeeeeedd edeeeievee elckqvrsrd isreewkgse
      781 tyspntaygv dflvpvmgyi crichkfyhs nsgaqlshck slghfenlqk ykaaknpspt
      841 trpvsrrcai narnaltalf tssgrppsqp ntqdktpskv tarpsqpplp rrstrlkt
//
LOCUS       NP_001271308             146 aa            linear   PRI 18-DEC-2022
DEFINITION  COMM domain-containing protein 4 isoform 4 [Homo sapiens].
ACCESSION   NP_001271308
VERSION     NP_001271308.1
DBSOURCE    REFSEQ: accession NM_001284379.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 146)
  AUTHORS   Suraweera A, Gandhi NS, Beard S, Burgess JT, Croft LV, Bolderson E,
            Naqi A, Ashton NW, Adams MN, Savage KI, Zhang SD, O'Byrne KJ and
            Richard DJ.
  TITLE     COMMD4 functions with the histone H2A-H2B dimer for the timely
            repair of DNA double-strand breaks
  JOURNAL   Commun Biol 4 (1), 484 (2021)
   PUBMED   33875784
  REMARK    GeneRIF: COMMD4 functions with the histone H2A-H2B dimer for the
            timely repair of DNA double-strand breaks.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 146)
  AUTHORS   Suraweera A, Duff A, Adams MN, Jekimovs C, Duijf PHG, Liu C,
            McTaggart M, Beard S, O'Byrne KJ and Richard DJ.
  TITLE     Defining COMMD4 as an anti-cancer therapeutic target and prognostic
            factor in non-small cell lung cancer
  JOURNAL   Br J Cancer 123 (4), 591-603 (2020)
   PUBMED   32439936
  REMARK    GeneRIF: Defining COMMD4 as an anti-cancer therapeutic target and
            prognostic factor in non-small cell lung cancer.
            Erratum:[Br J Cancer. 2021 Jan 26;:. PMID: 33500542]
REFERENCE   3  (residues 1 to 146)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 146)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 146)
  AUTHORS   Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA,
            Weisswange I, Mansfeld J, Buchholz F, Hyman AA and Mann M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   6  (residues 1 to 146)
  AUTHORS   Phillips-Krawczak CA, Singla A, Starokadomskyy P, Deng Z, Osborne
            DG, Li H, Dick CJ, Gomez TS, Koenecke M, Zhang JS, Dai H,
            Sifuentes-Dominguez LF, Geng LN, Kaufmann SH, Hein MY, Wallis M,
            McGaughran J, Gecz J, Sluis Bv, Billadeau DD and Burstein E.
  TITLE     COMMD1 is linked to the WASH complex and regulates endosomal
            trafficking of the copper transporter ATP7A
  JOURNAL   Mol Biol Cell 26 (1), 91-103 (2015)
   PUBMED   25355947
REFERENCE   7  (residues 1 to 146)
  AUTHORS   Starokadomskyy P, Gluck N, Li H, Chen B, Wallis M, Maine GN, Mao X,
            Zaidi IW, Hein MY, McDonald FJ, Lenzner S, Zecha A, Ropers HH, Kuss
            AW, McGaughran J, Gecz J and Burstein E.
  TITLE     CCDC22 deficiency in humans blunts activation of proinflammatory
            NF-kappaB signaling
  JOURNAL   J Clin Invest 123 (5), 2244-2256 (2013)
   PUBMED   23563313
REFERENCE   8  (residues 1 to 146)
  AUTHORS   Mao X, Gluck N, Chen B, Starokadomskyy P, Li H, Maine GN and
            Burstein E.
  TITLE     COMMD1 (copper metabolism MURR1 domain-containing protein 1)
            regulates Cullin RING ligases by preventing CAND1
            (Cullin-associated Nedd8-dissociated protein 1) binding
  JOURNAL   J Biol Chem 286 (37), 32355-32365 (2011)
   PUBMED   21778237
REFERENCE   9  (residues 1 to 146)
  AUTHORS   Uys GM, Ramburan A, Loos B, Kinnear CJ, Korkie LJ, Mouton J,
            Riedemann J and Moolman-Smook JC.
  TITLE     Myomegalin is a novel A-kinase anchoring protein involved in the
            phosphorylation of cardiac myosin binding protein C
  JOURNAL   BMC Cell Biol 12, 18 (2011)
   PUBMED   21569246
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 146)
  AUTHORS   Burstein E, Hoberg JE, Wilkinson AS, Rumble JM, Csomos RA, Komarck
            CM, Maine GN, Wilkinson JC, Mayo MW and Duckett CS.
  TITLE     COMMD proteins, a novel family of structural and functional
            homologs of MURR1
  JOURNAL   J Biol Chem 280 (23), 22222-22232 (2005)
   PUBMED   15799966
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC068338.14, HY162014.1, BQ233598.1, DB524201.1 and AW117823.1.
            
            Transcript Variant: This variant (4) differs in the 5' UTR,
            contains multiple differences in the coding region, and initiates
            translation at an alternate start codon, compared to variant 1. The
            encoded isoform (4) has a distinct N-terminus and is shorter than
            isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.26785.1, BQ218757.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..146
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.2"
     Protein         1..146
                     /product="COMM domain-containing protein 4 isoform 4"
                     /note="COMM domain-containing protein 4"
                     /calculated_mol_wt=15428
     Region          31..>133
                     /region_name="Commd"
                     /note="COMM_Domain, a family of domains found at the
                     C-terminus of HCarG, the copper metabolism gene MURR1
                     product, and related proteins. Presumably all COMM_Domain
                     containing proteins are located in the nucleus and the
                     COMM domain plays a role in...; cl06336"
                     /db_xref="CDD:446965"
     CDS             1..146
                     /gene="COMMD4"
                     /coded_by="NM_001284379.2:76..516"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS73764.1"
                     /db_xref="GeneID:54939"
                     /db_xref="HGNC:HGNC:26027"
                     /db_xref="MIM:616701"
ORIGIN      
        1 mrgrqvapet gggctglsan tvcagvravs lssvklrllc sqvlkellgq gidyekilkl
       61 tadakfesgd vkatvavlsf ilssaakhsv dgeslsselq qlglpkehaa slcrcyeekq
      121 splqkhlrvc slrklkqaqt lmsslg
//
LOCUS       NP_001354425             991 aa            linear   PRI 18-DEC-2022
DEFINITION  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat
            subunit B isoform D [Homo sapiens].
ACCESSION   NP_001354425 XP_016860741
VERSION     NP_001354425.1
DBSOURCE    REFSEQ: accession NM_001367496.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 991)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 991)
  AUTHORS   Kariuki SN, Ghodke-Puranik Y, Dorschner JM, Chrabot BS, Kelly JA,
            Tsao BP, Kimberly RP, Alarcon-Riquelme ME, Jacob CO, Criswell LA,
            Sivils KL, Langefeld CD, Harley JB, Skol AD and Niewold TB.
  TITLE     Genetic analysis of the pathogenic molecular sub-phenotype
            interferon-alpha identifies multiple novel loci involved in
            systemic lupus erythematosus
  JOURNAL   Genes Immun 16 (1), 15-23 (2015)
   PUBMED   25338677
REFERENCE   3  (residues 1 to 991)
  AUTHORS   Kapoor M, Wang JC, Wetherill L, Le N, Bertelsen S, Hinrichs AL,
            Budde J, Agrawal A, Almasy L, Bucholz K, Dick DM, Harari O,
            Xiaoling X, Hesselbrock V, Kramer J, Nurnberger JI Jr, Rice J,
            Schuckit M, Tischfield J, Porjesz B, Edenberg HJ, Bierut L, Foroud
            T and Goate A.
  TITLE     Genome-wide survival analysis of age at onset of alcohol dependence
            in extended high-risk COGA families
  JOURNAL   Drug Alcohol Depend 142, 56-62 (2014)
   PUBMED   24962325
REFERENCE   4  (residues 1 to 991)
  AUTHORS   Couzens AL, Knight JD, Kean MJ, Teo G, Weiss A, Dunham WH, Lin ZY,
            Bagshaw RD, Sicheri F, Pawson T, Wrana JL, Choi H and Gingras AC.
  TITLE     Protein interaction network of the mammalian Hippo pathway reveals
            mechanisms of kinase-phosphatase interactions
  JOURNAL   Sci Signal 6 (302), rs15 (2013)
   PUBMED   24255178
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 991)
  AUTHORS   Stefansson B, Ohama T, Daugherty AE and Brautigan DL.
  TITLE     Protein phosphatase 6 regulatory subunits composed of ankyrin
            repeat domains
  JOURNAL   Biochemistry 47 (5), 1442-1451 (2008)
   PUBMED   18186651
REFERENCE   6  (residues 1 to 991)
  AUTHORS   Dechamps C, Bach S, Portetelle D and Vandenbol M.
  TITLE     The Tre2 oncoprotein, implicated in Ewing's sarcoma, interacts with
            two components of the cytoskeleton
  JOURNAL   Biotechnol Lett 28 (4), 223-231 (2006)
   PUBMED   16555005
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010746.8, AC013264.4 and AC017035.6.
            On Dec 4, 2018 this sequence version replaced XP_016860741.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.271802.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..991
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     Protein         1..991
                     /product="serine/threonine-protein phosphatase 6
                     regulatory ankyrin repeat subunit B isoform D"
                     /note="serine/threonine-protein phosphatase 6 regulatory
                     ankyrin repeat subunit B; ankyrin repeat domain-containing
                     protein 44; serine/threonine-protein phosphatase 6
                     regulatory subunit ARS-B"
                     /calculated_mol_wt=107357
     Region          7..36
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          11..38
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          22..>310
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          40..71
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          40..69
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          73..102
                     /region_name="ANK 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          76..104
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(79..80,83..85,87..88,92,95,104,106,108,112..113,
                     116..118,120..121,125,128,137,139,141,145..146,149..151,
                     153..154,158,161,170)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          106..137
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          106..135
                     /region_name="ANK 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          139..170
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          139..168
                     /region_name="ANK 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          172..203
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          172..201
                     /region_name="ANK 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          205..236
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          205..234
                     /region_name="ANK 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          212..>475
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          238..267
                     /region_name="ANK 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          238..266
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          271..302
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          271..301
                     /region_name="ANK 9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          305..336
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          305..334
                     /region_name="ANK 10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          338..367
                     /region_name="ANK 11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          355..>664
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          371..400
                     /region_name="ANK 12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          375..402
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(404,406,410..411,414..416,418..419,423,426,435,437,
                     439,443..444,447..449,451..452,456,459,468,470,472,
                     476..477,489..491,493..494,517,520,529)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          404..435
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          404..433
                     /region_name="ANK 13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          437..468
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          437..466
                     /region_name="ANK 14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          470..529
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          470..498
                     /region_name="ANK 15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          531..562
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          531..561
                     /region_name="ANK 16"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          564..597
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          566..595
                     /region_name="ANK 17"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          599..628
                     /region_name="ANK 18"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          600..630
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(601,605..606,609..611,613..614,618,621,630,633,635,
                     639..640,643..645,647..648,652,655,667,669,671,675..676,
                     679..681,683..684,688,691,700)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          633..667
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          633..662
                     /region_name="ANK 19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          651..>966
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          669..700
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          669..698
                     /region_name="ANK 20"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          702..733
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          702..731
                     /region_name="ANK 21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          735..764
                     /region_name="ANK 22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          771..836
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          771..800
                     /region_name="ANK 23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          803..832
                     /region_name="ANK 24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          838..867
                     /region_name="ANK 25"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          839..869
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(840,844..845,848..850,852..853,857,860,869,871,873,
                     877..878,881..883,885..886,890,894,903,905,907,911..912,
                     915..917,919..920,924,927,936)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          871..903
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          871..901
                     /region_name="ANK 26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          905..936
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          905..934
                     /region_name="ANK 27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     Region          941..972
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          941..970
                     /region_name="ANK 28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8A2.3)"
     CDS             1..991
                     /gene="ANKRD44"
                     /gene_synonym="PP6-ARS-B"
                     /coded_by="NM_001367496.1:177..3152"
                     /note="isoform D is encoded by transcript variant E"
                     /db_xref="GeneID:91526"
                     /db_xref="HGNC:HGNC:25259"
ORIGIN      
        1 mavlkltdqp plvqaifsgd peeirmlihk tedvntldse krtplhvaaf lgdaeiiell
       61 ilsgarvnak dnmwltplhr avasrseeav qvlikhsadv nardknwqtp lhvaaankav
      121 kcaeviipll ssvnvsdrgg rtalhhaaln ghvemvnlll akganinafd kkdrralhwa
      181 aymghldvva llinhgaevt ckdkkgytpl haaasngqin vvkhllnlgv eideinvygn
      241 talhiacyng qdavvnelid yganvnqpnn ngftplhfaa asthgalcle llvnngadvn
      301 iqskdgkspl hmtavhgrft rsqtliqngg eidcvdkdgn tplhvaaryg hellintlit
      361 sgadtakcgi hsmfplhlaa lnahsdccrk llssgfeidt pdkfgrtclh aaaaggnvec
      421 ikllqssgad fhkkdkcgrt plhyaaanch fhcietlvtt ganvnetddw grtalhyaaa
      481 sdmdrnktil gnahdnseel erarelkeke atlclefllq ndanpsirdk egynsihyaa
      541 ayghrqclel llertnsgfe esdsgatksp lhlaaynghh qalevllqsl vdldirdekg
      601 rtaldlaafk ghtecveali nqgasifvkd nvtkrtplha svinghtlcl rllleiadnp
      661 eavdvkdakg qtplmlavay ghidavslll ekeanvdtvd ilgctalhrg imtgheecvq
      721 mlleqevsil ckdsrgrtpl hyaaarghat wlsellqmal seedccfkdn qgytplhwac
      781 yngnenciev lleqkcfrkf ignpftplhc aiindhgnca slllgaidss ivscrddkgr
      841 tplhaaafad hveclqlllr hsapvnavdn sgktalmmaa engqagavdi lvnsaqadlt
      901 vkdkdlntpl hlacskghek callildkiq deslineknn alqtplhvaa rnglkvvvee
      961 llakgacvla vdengigiss sclflrskqp y
//
LOCUS       NP_001308055             381 aa            linear   PRI 18-DEC-2022
DEFINITION  PHD finger protein 7 isoform 1 [Homo sapiens].
ACCESSION   NP_001308055 XP_005265283
VERSION     NP_001308055.1
DBSOURCE    REFSEQ: accession NM_001321126.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 381)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 381)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 381)
  AUTHORS   Ripke S, O'Dushlaine C, Chambert K, Moran JL, Kahler AK, Akterin S,
            Bergen SE, Collins AL, Crowley JJ, Fromer M, Kim Y, Lee SH,
            Magnusson PK, Sanchez N, Stahl EA, Williams S, Wray NR, Xia K,
            Bettella F, Borglum AD, Bulik-Sullivan BK, Cormican P, Craddock N,
            de Leeuw C, Durmishi N, Gill M, Golimbet V, Hamshere ML, Holmans P,
            Hougaard DM, Kendler KS, Lin K, Morris DW, Mors O, Mortensen PB,
            Neale BM, O'Neill FA, Owen MJ, Milovancevic MP, Posthuma D, Powell
            J, Richards AL, Riley BP, Ruderfer D, Rujescu D, Sigurdsson E,
            Silagadze T, Smit AB, Stefansson H, Steinberg S, Suvisaari J,
            Tosato S, Verhage M, Walters JT, Levinson DF, Gejman PV, Kendler
            KS, Laurent C, Mowry BJ, O'Donovan MC, Owen MJ, Pulver AE, Riley
            BP, Schwab SG, Wildenauer DB, Dudbridge F, Holmans P, Shi J, Albus
            M, Alexander M, Campion D, Cohen D, Dikeos D, Duan J, Eichhammer P,
            Godard S, Hansen M, Lerer FB, Liang KY, Maier W, Mallet J, Nertney
            DA, Nestadt G, Norton N, O'Neill FA, Papadimitriou GN, Ribble R,
            Sanders AR, Silverman JM, Walsh D, Williams NM, Wormley B, Arranz
            MJ, Bakker S, Bender S, Bramon E, Collier D, Crespo-Facorro B, Hall
            J, Iyegbe C, Jablensky A, Kahn RS, Kalaydjieva L, Lawrie S, Lewis
            CM, Lin K, Linszen DH, Mata I, McIntosh A, Murray RM, Ophoff RA,
            Powell J, Rujescu D, Van Os J, Walshe M, Weisbrod M, Wiersma D,
            Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP,
            Corvin AP, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew
            CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC,
            Viswanathan AC, Wood NW, Spencer CC, Band G, Bellenguez C, Freeman
            C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson RD, Strange A,
            Su Z, Vukcevic D, Donnelly P, Langford C, Hunt SE, Edkins S,
            Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E,
            Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC,
            Ravindrarajah R, Ricketts M, Tashakkori-Ghanbaria A, Waller MJ,
            Weston P, Widaa S, Whittaker P, Barroso I, Deloukas P, Mathew CG,
            Blackwell JM, Brown MA, Corvin AP, McCarthy MI, Spencer CC, Bramon
            E, Corvin AP, O'Donovan MC, Stefansson K, Scolnick E, Purcell S,
            McCarroll SA, Sklar P, Hultman CM and Sullivan PF.
  CONSRTM   Multicenter Genetic Studies of Schizophrenia Consortium; Psychosis
            Endophenotypes International Consortium; Wellcome Trust Case
            Control Consortium 2
  TITLE     Genome-wide association analysis identifies 13 new risk loci for
            schizophrenia
  JOURNAL   Nat Genet 45 (10), 1150-1159 (2013)
   PUBMED   23974872
REFERENCE   4  (residues 1 to 381)
  AUTHORS   Paradowska AS, Miller D, Spiess AN, Vieweg M, Cerna M,
            Dvorakova-Hortova K, Bartkuhn M, Schuppe HC, Weidner W and Steger
            K.
  TITLE     Genome wide identification of promoter binding sites for H4K12ac in
            human sperm and its relevance for early embryonic development
  JOURNAL   Epigenetics 7 (9), 1057-1070 (2012)
   PUBMED   22894908
  REMARK    GeneRIF: PHF7 promoter binds H4K12ac in mature spermatozoa.
REFERENCE   5  (residues 1 to 381)
  AUTHORS   Yang SY, Baxter EM and Van Doren M.
  TITLE     Phf7 controls male sex determination in the Drosophila germline
  JOURNAL   Dev Cell 22 (5), 1041-1051 (2012)
   PUBMED   22595675
REFERENCE   6  (residues 1 to 381)
  CONSRTM   Psychiatric GWAS Consortium Bipolar Disorder Working Group
  TITLE     Large-scale genome-wide association analysis of bipolar disorder
            identifies a new susceptibility locus near ODZ4
  JOURNAL   Nat Genet 43 (10), 977-983 (2011)
   PUBMED   21926972
  REMARK    Erratum:[Nat Genet. 2012 Sep;44(9):1072. Fullerton, Janice M
            [added]; Hyoun, Phil L [corrected to Lee, Phil H]; Meng, Fan Guo
            [corrected to Meng, Fan]]
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 381)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   8  (residues 1 to 381)
  AUTHORS   Xiao J, Xu M, Li J, Chang Chan H, Lin M, Zhu H, Zhang W, Zhou Z,
            Zhao B and Sha J.
  TITLE     NYD-SP6, a novel gene potentially involved in regulating testicular
            development/spermatogenesis
  JOURNAL   Biochem Biophys Res Commun 291 (1), 101-110 (2002)
   PUBMED   11829468
REFERENCE   9  (residues 1 to 381)
  AUTHORS   Aasland R, Gibson TJ and Stewart AF.
  TITLE     The PHD finger: implications for chromatin-mediated transcriptional
            regulation
  JOURNAL   Trends Biochem Sci 20 (2), 56-59 (1995)
   PUBMED   7701562
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG704704.1, AK292221.1,
            AY014283.2 and BC022002.1.
            On Mar 18, 2016 this sequence version replaced XP_005265283.1.
            
            Summary: Spermatogenesis is a complex process regulated by
            extracellular and intracellular factors as well as cellular
            interactions among interstitial cells of the testis, Sertoli cells,
            and germ cells. This gene is expressed in the testis in Sertoli
            cells but not germ cells. The protein encoded by this gene contains
            plant homeodomain (PHD) finger domains, also known as leukemia
            associated protein (LAP) domains, believed to be involved in
            transcriptional regulation. The protein, which localizes to the
            nucleus of transfected cells, has been implicated in the
            transcriptional regulation of spermatogenesis. Alternate splicing
            results in multiple transcript variants of this gene. [provided by
            RefSeq, May 2013].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.211421.1,
                                           SRR5189667.176856.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..381
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.1"
     Protein         1..381
                     /product="PHD finger protein 7 isoform 1"
                     /note="testis development protein NYD-SP6; testicular
                     secretory protein Li 34"
                     /calculated_mol_wt=43636
     Region          33..144
                     /region_name="ePHD_PHF7_G2E3_like"
                     /note="Extended PHD finger found in PHD finger protein 7
                     (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase
                     (G2E3); cd15669"
                     /db_xref="CDD:277139"
     Site            order(97,106..110,116,139)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277139"
     Region          247..300
                     /region_name="PHD_PHF7_G2E3_like"
                     /note="PHD finger found in PHD finger protein 7 (PHF7) and
                     G2/M phase-specific E3 ubiquitin-protein ligase (G2E3);
                     cd15496"
                     /db_xref="CDD:276971"
     Site            order(247,269..273,277,295)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:276971"
     Region          341..363
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BWX1.1)"
     CDS             1..381
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /coded_by="NM_001321126.2:617..1762"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS2854.1"
                     /db_xref="GeneID:51533"
                     /db_xref="HGNC:HGNC:18458"
                     /db_xref="MIM:620057"
ORIGIN      
        1 mktvkekkec qrlrksaktr rvtqrkpssg pvcwlclrep gdpeklgefl qkdnisvhyf
       61 clilssklpq rgqsnrgfhg flpedikkea arasrkicfv ckkkgaainc qkdqclrnfh
      121 lpcgqergcl sqffgeyksf cdkhrptqni qhghvgeesc ilccedlsqq sveniqspcc
      181 sqaiyhrkci qkyahtsakh ffkcpqcnnr kefpqemlrm gihipdrdaa welepgafsd
      241 lyqryqhcda piclyeqgrd sfedegrwcl ilcatcgshg thrdcsslrs nskkweceec
      301 spaaatdyip ensgdipccs stfhpeehfc rdntleenpg lswtdwpeps llekpessrg
      361 rrsyswrskg vritnsckks k
//
LOCUS       NP_058639                316 aa            linear   PRI 19-DEC-2022
DEFINITION  taste receptor type 2 member 3 [Homo sapiens].
ACCESSION   NP_058639
VERSION     NP_058639.1
DBSOURCE    REFSEQ: accession NM_016943.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 316)
  AUTHORS   Szczepaniak O, Jokiel M, Stuper-Szablewska K, Szymanowska D,
            Dziedzinski M and Kobus-Cisowska J.
  TITLE     Can cornelian cherry mask bitter taste of probiotic chocolate?
            Human TAS2R receptors and a sensory study with comprehensive
            characterisation of new functional product
  JOURNAL   PLoS One 16 (2), e0243871 (2021)
   PUBMED   33556063
  REMARK    GeneRIF: Can cornelian cherry mask bitter taste of probiotic
            chocolate? Human TAS2R receptors and a sensory study with
            comprehensive characterisation of new functional product.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 316)
  AUTHORS   Zhang L, Chen X, Xu L, Guan S, Wang D, Lin Y and Wang Z.
  TITLE     Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated
            with polysyndactyly in a Chinese family
  JOURNAL   Mol Genet Genomic Med 8 (6), e1223 (2020)
   PUBMED   32253825
  REMARK    GeneRIF: Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3
            associated with polysyndactyly in a Chinese family.
REFERENCE   3  (residues 1 to 316)
  AUTHORS   Mikolajczyk-Stecyna J, Malinowska AM and Chmurzynska A.
  TITLE     Polymorphism of TAS2R3, TAS2R5, TAS2R19, and TAS2R50 genes and
            bitter food intake frequency inelderly woman
  JOURNAL   Acta Sci Pol Technol Aliment 19 (1), 109-122 (2020)
   PUBMED   32227702
  REMARK    GeneRIF: Polymorphism of TAS2R3, TAS2R5, TAS2R19, and TAS2R50 genes
            and bitter food intake frequency inelderly woman.
REFERENCE   4  (residues 1 to 316)
  AUTHORS   Choi JH, Lee J, Yang S, Lee EK, Hwangbo Y and Kim J.
  TITLE     Genetic variations in TAS2R3 and TAS2R4 bitterness receptors modify
            papillary carcinoma risk and thyroid function in Korean females
  JOURNAL   Sci Rep 8 (1), 15004 (2018)
   PUBMED   30301923
  REMARK    GeneRIF: In summary, genetic variations in T2R3/4 bitterness
            receptors may modify the papillary thyroid carcinoma (PTC) risk,
            and the genetically modified thyroid hormone level by those
            variations may be linked with the PTC-T2Rs association
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 316)
  AUTHORS   Nolden AA, McGeary JE and Hayes JE.
  TITLE     Differential bitterness in capsaicin, piperine, and ethanol
            associates with polymorphisms in multiple bitter taste receptor
            genes
  JOURNAL   Physiol Behav 156, 117-127 (2016)
   PUBMED   26785164
  REMARK    GeneRIF: differences in the bitterness from chemicals associated
            with genetic polymorphisms in bitter taste receptor genes,
            specifically in TAS2R3, -4, -5 as well as TAS2R38.
REFERENCE   6  (residues 1 to 316)
  AUTHORS   Calvo SE, Pagliarini DJ and Mootha VK.
  TITLE     Upstream open reading frames cause widespread reduction of protein
            expression and are polymorphic among humans
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7507-7512 (2009)
   PUBMED   19372376
  REMARK    GeneRIF: Includes the study of a polymorphic upstream ORF in this
            gene, and shows that it functions to reduce protein levels by ~58%.
REFERENCE   7  (residues 1 to 316)
  AUTHORS   Matsunami H, Montmayeur JP and Buck LB.
  TITLE     A family of candidate taste receptors in human and mouse
  JOURNAL   Nature 404 (6778), 601-604 (2000)
   PUBMED   10766242
REFERENCE   8  (residues 1 to 316)
  AUTHORS   Firestein,S.
  TITLE     The good taste of genomics
  JOURNAL   Nature 404 (6778), 552-553 (2000)
   PUBMED   10766221
REFERENCE   9  (residues 1 to 316)
  AUTHORS   Chandrashekar J, Mueller KL, Hoon MA, Adler E, Feng L, Guo W, Zuker
            CS and Ryba NJ.
  TITLE     T2Rs function as bitter taste receptors
  JOURNAL   Cell 100 (6), 703-711 (2000)
   PUBMED   10761935
REFERENCE   10 (residues 1 to 316)
  AUTHORS   Adler E, Hoon MA, Mueller KL, Chandrashekar J, Ryba NJ and Zuker
            CS.
  TITLE     A novel family of mammalian taste receptors
  JOURNAL   Cell 100 (6), 693-702 (2000)
   PUBMED   10761934
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC095523.1 and AC004979.1.
            
            Summary: This gene encodes a member of a family of candidate taste
            receptors that are members of the G protein-coupled receptor
            superfamily and that are specifically expressed by taste receptor
            cells of the tongue and palate epithelia. These apparently
            intronless taste receptor genes encode a 7-transmembrane receptor
            protein, functioning as a bitter taste receptor. This gene is
            clustered with another 3  candidate taste receptor genes in
            chromosome 7 and is genetically linked to loci that influence
            bitter perception. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC095523.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000247879.2/ ENSP00000247879.2
            RefSeq Select criteria :: based on single protein-coding transcript
            regulatory uORF        :: PMID: 19372376
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..316
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     Protein         1..316
                     /product="taste receptor type 2 member 3"
                     /note="candidate taste receptor T2R3; taste receptor, type
                     2, member 3"
                     /calculated_mol_wt=35784
     Region          7..296
                     /region_name="7tm_TAS2R3"
                     /note="mammalian taste receptor 2, subtype 3, member of
                     the seven-transmembrane G protein-coupled receptor
                     superfamily; cd15020"
                     /db_xref="CDD:320148"
     Site            7..27
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYW6.3)"
     Region          8..33
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320148"
     Site            43..63
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYW6.3)"
     Region          45..69
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320148"
     Region          83..105
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320148"
     Site            95..115
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYW6.3)"
     Site            129..149
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYW6.3)"
     Region          132..148
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320148"
     Site            166
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NYW6.3)"
     Region          178..201
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320148"
     Site            187..207
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYW6.3)"
     Region          226..251
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320148"
     Site            235..255
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYW6.3)"
     Region          263..288
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320148"
     Site            267..287
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYW6.3)"
     CDS             1..316
                     /gene="TAS2R3"
                     /gene_synonym="T2R3"
                     /coded_by="NM_016943.2:63..1013"
                     /db_xref="CCDS:CCDS5867.1"
                     /db_xref="GeneID:50831"
                     /db_xref="HGNC:HGNC:14910"
                     /db_xref="MIM:604868"
ORIGIN      
        1 mmgltegvfl ilsgtqftlg ilvncfielv ngsswfktkr mslsdfiitt lallriillc
       61 iiltdsflie fspnthdsgi imqiidvswt ftnhlsiwla tclgvlyclk iasfshptfl
      121 wlkwrvsrvm vwmllgalll scgstaslin efklysvfrg ieatrnvteh frkkrseyyl
      181 ihvlgtlwyl pplivslasy sllifslgrh trqmlqngts srdptteahk rairiilsff
      241 flfllyflaf liasfgnflp ktkmakmige vmtmfypagh sfililgnsk lkqtfvvmlr
      301 cesghlkpgs kgpifs
//
LOCUS       NP_079059                902 aa            linear   PRI 24-DEC-2022
DEFINITION  cytosolic carboxypeptidase 2 [Homo sapiens].
ACCESSION   NP_079059
VERSION     NP_079059.2
DBSOURCE    REFSEQ: accession NM_024783.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 902)
  AUTHORS   Peterfi L, Banyai D, Yusenko MV, Bjercke T and Kovacs G.
  TITLE     Expression of RARRES1 and AGBL2 and progression of conventional
            renal cell carcinoma
  JOURNAL   Br J Cancer 122 (12), 1818-1824 (2020)
   PUBMED   32307444
  REMARK    GeneRIF: Expression of RARRES1 and AGBL2 and progression of
            conventional renal cell carcinoma.
REFERENCE   2  (residues 1 to 902)
  AUTHORS   Wang LL, Jin XH, Cai MY, Li HG, Chen JW, Wang FW, Wang CY, Hu WW,
            Liu F and Xie D.
  TITLE     AGBL2 promotes cancer cell growth through IRGM-regulated autophagy
            and enhanced Aurora A activity in hepatocellular carcinoma
  JOURNAL   Cancer Lett 414, 71-80 (2018)
   PUBMED   29126912
  REMARK    GeneRIF: Findings suggest that ATP/GTP binding protein like 2
            (AGBL2) plays a critical oncogenic role in the pathogenesis of
            hepatocellular carcinoma (HCC) through modulation on
            immunity-related GTPase family, M protein (IRGM)-regulated
            autophagy and aurora kinase A (Aurora A) activity.
            Erratum:[Cancer Lett. 2022 Jul 28;539:215700. PMID: 35525812]
REFERENCE   3  (residues 1 to 902)
  AUTHORS   Zhu,H., Zheng,Z., Zhang,J., Liu,X., Liu,Y., Yang,W., Liu,Y.,
            Zhang,T., Zhao,Y., Liu,Y., Su,X. and Gu,X.
  TITLE     Effects of AGBL2 on cell proliferation and chemotherapy resistance
            of gastric cancer
  JOURNAL   Hepatogastroenterology 62 (138), 497-502 (2015)
   PUBMED   25916089
  REMARK    GeneRIF: Suggest role for AGBL2 in cell proliferation and
            chemotherapy resistance in gastric cancer.
REFERENCE   4  (residues 1 to 902)
  AUTHORS   Hysi PG, Cheng CY, Springelkamp H, Macgregor S, Bailey JNC,
            Wojciechowski R, Vitart V, Nag A, Hewitt AW, Hohn R, Venturini C,
            Mirshahi A, Ramdas WD, Thorleifsson G, Vithana E, Khor CC,
            Stefansson AB, Liao J, Haines JL, Amin N, Wang YX, Wild PS, Ozel
            AB, Li JZ, Fleck BW, Zeller T, Staffieri SE, Teo YY,
            Cuellar-Partida G, Luo X, Allingham RR, Richards JE, Senft A,
            Karssen LC, Zheng Y, Bellenguez C, Xu L, Iglesias AI, Wilson JF,
            Kang JH, van Leeuwen EM, Jonsson V, Thorsteinsdottir U, Despriet
            DDG, Ennis S, Moroi SE, Martin NG, Jansonius NM, Yazar S, Tai ES,
            Amouyel P, Kirwan J, van Koolwijk LME, Hauser MA, Jonasson F, Leo
            P, Loomis SJ, Fogarty R, Rivadeneira F, Kearns L, Lackner KJ, de
            Jong PTVM, Simpson CL, Pennell CE, Oostra BA, Uitterlinden AG, Saw
            SM, Lotery AJ, Bailey-Wilson JE, Hofman A, Vingerling JR, Maubaret
            C, Pfeiffer N, Wolfs RCW, Lemij HG, Young TL, Pasquale LR, Delcourt
            C, Spector TD, Klaver CCW, Small KS, Burdon KP, Stefansson K, Wong
            TY, Viswanathan A, Mackey DA, Craig JE, Wiggs JL, van Duijn CM,
            Hammond CJ and Aung T.
  CONSRTM   BMES GWAS Group; NEIGHBORHOOD Consortium; Wellcome Trust Case
            Control Consortium 2
  TITLE     Genome-wide analysis of multi-ancestry cohorts identifies new loci
            influencing intraocular pressure and susceptibility to glaucoma
  JOURNAL   Nat Genet 46 (10), 1126-1130 (2014)
   PUBMED   25173106
REFERENCE   5  (residues 1 to 902)
  AUTHORS   Zhang H, Ren Y, Pang D and Liu C.
  TITLE     Clinical implications of AGBL2 expression and its inhibitor latexin
            in breast cancer
  JOURNAL   World J Surg Oncol 12, 142 (2014)
   PUBMED   24884516
  REMARK    GeneRIF: High AGBL2 expression is associated with breast cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 902)
  AUTHORS   Rodriguez de la Vega Otazo M, Lorenzo J, Tort O, Aviles FX and
            Bautista JM.
  TITLE     Functional segregation and emerging role of cilia-related cytosolic
            carboxypeptidases (CCPs)
  JOURNAL   FASEB J 27 (2), 424-431 (2013)
   PUBMED   23085998
REFERENCE   7  (residues 1 to 902)
  AUTHORS   Sahab ZJ, Hall MD, Me Sung Y, Dakshanamurthy S, Ji Y, Kumar D and
            Byers SW.
  TITLE     Tumor suppressor RARRES1 interacts with cytoplasmic
            carboxypeptidase AGBL2 to regulate the alpha-tubulin tyrosination
            cycle
  JOURNAL   Cancer Res 71 (4), 1219-1228 (2011)
   PUBMED   21303978
  REMARK    GeneRIF: RARRES1, its interacting partners AGBL2, Eg5/KIF11,
            another EEY-bearing protein (EB1), and the microtubule tyrosination
            cycle are important in tumorigenesis.
REFERENCE   8  (residues 1 to 902)
  AUTHORS   Jahn JE, Ricketts SL and Coleman WB.
  TITLE     Identification of candidate liver tumor suppressor genes from human
            11p11.2 by transcription mapping of microcell hybrid cell lines
  JOURNAL   Int J Oncol 22 (6), 1303-1310 (2003)
   PUBMED   12738998
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC021443.27 and BC036234.1.
            On Jun 12, 2003 this sequence version replaced NP_079059.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC036234.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000525123.6/ ENSP00000435582.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..902
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..902
                     /product="cytosolic carboxypeptidase 2"
                     /note="cytoplasmic carboxypeptidase 2; testis tissue
                     sperm-binding protein Li 96mP; ATP/GTP binding protein
                     like 2; protein deglutamylase CCP2"
                     /calculated_mol_wt=104063
     Region          268..395
                     /region_name="Pepdidase_M14_N"
                     /note="Cytosolic carboxypeptidase N-terminal domain;
                     pfam18027"
                     /db_xref="CDD:407865"
     Region          416..666
                     /region_name="M14_AGBL2-3_like"
                     /note="Peptidase M14-like domain of ATP/GTP binding
                     protein AGBL-2 and AGBL-3, and related proteins; cd06907"
                     /db_xref="CDD:349478"
     Site            order(462,465,512,521..522,558..559,568,630)
                     /site_type="active"
                     /db_xref="CDD:349478"
     Region          746..770
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5U5Z8.2)"
     Region          796..879
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5U5Z8.2)"
     CDS             1..902
                     /gene="AGBL2"
                     /gene_synonym="CCP2"
                     /coded_by="NM_024783.4:296..3004"
                     /db_xref="CCDS:CCDS7944.1"
                     /db_xref="GeneID:79841"
                     /db_xref="HGNC:HGNC:26296"
                     /db_xref="MIM:617345"
ORIGIN      
        1 mfpalethlk qtipdpyedf myrhlqyygy fkaqrgslpn sathqhvrkn npqcllngsl
       61 gekddlipdt lqkekllwpi slssavhrqi eainrdfhsc lgwmqwrgls slqpppprfk
      121 dspasafrva gitdshmlsl phlrsrqlly deldevnprl repqelfsil stkrplqapr
      181 wpiecevike nihhiewapp qpeyfyqpkg nekvpeivge kkgtvvyqld svpiegsyft
      241 ssrvggkrgi vkelavtlqg pedntllfes rfesgnlqka vrvdtyeyel tlrtdlytnk
      301 htqwfyfrvq ntrkdatyrf tivnllkpks lytvgmkpll ysqldantrn igwrregnei
      361 kyyknntddg qqpfycltwt iqfpydqdtc ffahfypyty tdlqcyllsv annpiqsqfc
      421 klqtlcrsla gntvylltit npsqtpqeaa akkavvlsar vhpgesngsw vmkgfldfil
      481 snspdaqllr difvfkvlpm lnpdgvivgn yrcslagrdl nrhyktilke sfpciwytrn
      541 mikrlleere vllycdfhgh srknniflyg cnnnnrkywl hervfplmlc knapdkfsfh
      601 scnfkvqkck egtgrvvmwr mgilnsytme stfggstlgn krdthftied lkslgyhvcd
      661 tlldfcdpdq mkftqclael kellrqeihk kfhelgqdvd legswsdisl sdiesstsgs
      721 dsslsdglpv hlaniadelt qkkkmfkkkk kkslqtrkqr neqyqkknlm qklkltedts
      781 ekagfastlq kqptffknse nssflpmkne nprlnetnln rrdkdtpldp smatlilpkn
      841 kgrmqnkkpg ftvscspkrt inssqepapg mkpnwprsry patkrgcaam aaypslhiyt
      901 yp
//
LOCUS       NP_001272414             262 aa            linear   PRI 25-DEC-2022
DEFINITION  E3 ubiquitin-protein ligase NEURL3 isoform a [Homo sapiens].
ACCESSION   NP_001272414
VERSION     NP_001272414.1
DBSOURCE    REFSEQ: accession NM_001285485.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 262)
  AUTHORS   Hu Y, Nguyen TT, Bui KC, Demello DE and Smith JB.
  TITLE     A novel inflammation-induced ubiquitin E3 ligase in alveolar type
            II cells
  JOURNAL   Biochem Biophys Res Commun 333 (1), 253-263 (2005)
   PUBMED   15936721
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC406186.1, AC013270.6, HY288910.1 and CA311039.1.
            
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the longer isoform (a).
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA1968832
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000451794.6/ ENSP00000478591.1
            RefSeq Select criteria    :: based on conservation, expression,
                                         longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..262
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     Protein         1..262
                     /product="E3 ubiquitin-protein ligase NEURL3 isoform a"
                     /EC_number="2.3.2.27"
                     /note="neuralized-like protein 3; lung-inducible
                     neuralized-related C3CH4 RING domain protein; E3
                     ubiquitin-protein ligase NEURL3; neuralized homolog 3
                     pseudogene; RING-type E3 ubiquitin transferase NEURL3"
                     /calculated_mol_wt=28658
     Region          20..172
                     /region_name="Neuralized"
                     /note="pfam07177"
                     /db_xref="CDD:429336"
     Region          199..248
                     /region_name="RING-HC_NEURL3"
                     /note="RING finger, HC subclass, found in neuralized-like
                     protein 3 (NEURL3) and similar proteins; cd16552"
                     /db_xref="CDD:438214"
     CDS             1..262
                     /gene="NEURL3"
                     /gene_synonym="LINCR; RNF132"
                     /coded_by="NM_001285485.2:72..860"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS74542.1"
                     /db_xref="GeneID:93082"
                     /db_xref="HGNC:HGNC:25162"
                     /db_xref="MIM:617206"
ORIGIN      
        1 mgaqlcfean akaprealrf haeakgaqvr ldtrgciahr rttfhdgivf sqrpvrlger
       61 valrvlrees gwcgglrvgf trldpacvsv pslppflcpd leeqsptwaa vlpegcaltg
      121 dlvrfwvdrr gclfakvnag crlllregvp vgaplwavmd vygttkaiel ldptasrlpt
      181 pmpwdlsnka vpepkatpge ecaicfyhaa ntrlvpcght yfcrycawrv fsdtakcpvc
      241 rwqieavapa qgppalrvee gs
//
LOCUS       NP_001333863             340 aa            linear   PRI 25-DEC-2022
DEFINITION  zinc finger protein 488 [Homo sapiens].
ACCESSION   NP_001333863
VERSION     NP_001333863.1
DBSOURCE    REFSEQ: accession NM_001346934.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 340)
  AUTHORS   Qiu H, Zhang L, Wang D, Zhang Y, Cai H, Miao H and Chu F.
  TITLE     ZNF488 Promotes the Invasion and Migration of Pancreatic Carcinoma
            Cells through the Akt/mTOR Pathway
  JOURNAL   Comput Math Methods Med 2022, 4622877 (2022)
   PUBMED   35111235
  REMARK    GeneRIF: ZNF488 Promotes the Invasion and Migration of Pancreatic
            Carcinoma Cells through the Akt/mTOR Pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 340)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 340)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 340)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 340)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL731561.12.
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. All six variants encode the same protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.140579.1,
                                           SRR1660809.189541.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2142853,
                                           SAMEA2145774 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..340
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     Protein         1..340
                     /product="zinc finger protein 488"
                     /calculated_mol_wt=36831
     Region          72..187
                     /region_name="Important for transcriptional repression
                     activity. /evidence=ECO:0000250|UniProtKB:Q5HZG9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MN9.1)"
     Region          77..180
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MN9.1)"
     Region          277..297
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(277,280,293,297)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          298..305
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00768"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MN9.1)"
     Region          319..339
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          319..339
                     /region_name="zf-C2H2_4"
                     /note="C2H2-type zinc finger; pfam13894"
                     /db_xref="CDD:433562"
     CDS             1..340
                     /gene="ZNF488"
                     /coded_by="NM_001346934.2:302..1324"
                     /db_xref="CCDS:CCDS73120.1"
                     /db_xref="GeneID:118738"
                     /db_xref="HGNC:HGNC:23535"
ORIGIN      
        1 mpewppclsv apalvitmaa gkgaplspsa enrwrlsepe lgrgckpvll ektnrlgpea
       61 avgragrdvg saelallvap gkprpgkplp pktrgeqrqs aftelprmkd rqvdaqaqer
      121 ehddptgqpg apqltqnipr gpagskvfsv wpsgarseqr safskptkrp aerpeltsvf
      181 pagesadalg elsgllnttd lacwgrlstp kllvgdlwnl qalpqnaplc stflgaptlw
      241 lehtqaqvpp pssssttswa llpptltslg lstqnwcakc nlsfrltsdl vfhmrshhkk
      301 ehagpdphsq krreealacp vcqehfrerh hlsrhmtshs
//
LOCUS       NP_001001503             108 aa            linear   PRI 26-DEC-2022
DEFINITION  NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial
            isoform b precursor [Homo sapiens].
ACCESSION   NP_001001503
VERSION     NP_001001503.1
DBSOURCE    REFSEQ: accession NM_001001503.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 108)
  AUTHORS   Fasci D, van Ingen H, Scheltema RA and Heck AJR.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   2  (residues 1 to 108)
  AUTHORS   Signes A and Fernandez-Vizarra E.
  TITLE     Assembly of mammalian oxidative phosphorylation complexes I-V and
            supercomplexes
  JOURNAL   Essays Biochem 62 (3), 255-270 (2018)
   PUBMED   30030361
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 108)
  AUTHORS   Guo R, Zong S, Wu M, Gu J and Yang M.
  TITLE     Architecture of Human Mitochondrial Respiratory Megacomplex
            I2III2IV2
  JOURNAL   Cell 170 (6), 1247-1257 (2017)
   PUBMED   28844695
REFERENCE   4  (residues 1 to 108)
  AUTHORS   Dibley MG, Ryan MT and Stroud DA.
  TITLE     A novel isoform of the human mitochondrial complex I subunit NDUFV3
  JOURNAL   FEBS Lett 591 (1), 109-117 (2017)
   PUBMED   27987311
  REMARK    GeneRIF: NDUFV3 represents the first known complex I subunit
            present in two functional isoforms.
REFERENCE   5  (residues 1 to 108)
  AUTHORS   Stroud DA, Surgenor EE, Formosa LE, Reljic B, Frazier AE, Dibley
            MG, Osellame LD, Stait T, Beilharz TH, Thorburn DR, Salim A and
            Ryan MT.
  TITLE     Accessory subunits are integral for assembly and function of human
            mitochondrial complex I
  JOURNAL   Nature 538 (7623), 123-126 (2016)
   PUBMED   27626371
REFERENCE   6  (residues 1 to 108)
  AUTHORS   Zakharova NV and Zharova TV.
  TITLE     Kinetic mechanism of mitochondrial NADH:ubiquinone oxidoreductase
            interaction with nucleotide substrates of the transhydrogenase
            reaction
  JOURNAL   Biochemistry (Mosc) 67 (12), 1395-1404 (2002)
   PUBMED   12600270
REFERENCE   7  (residues 1 to 108)
  AUTHORS   Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH,
            Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT and Old
            LJ.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
REFERENCE   8  (residues 1 to 108)
  AUTHORS   Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA,
            Smeets RJ, Trijbels JM and Smeitink JA.
  TITLE     cDNA of eight nuclear encoded subunits of NADH:ubiquinone
            oxidoreductase: human complex I cDNA characterization completed
  JOURNAL   Biochem Biophys Res Commun 253 (2), 415-422 (1998)
   PUBMED   9878551
REFERENCE   9  (residues 1 to 108)
  AUTHORS   de Coo RF, Buddiger P, Smeets HJ and van Oost BA.
  TITLE     Molecular cloning and characterization of the human mitochondrial
            NADH:oxidoreductase 10-kDa gene (NDUFV3)
  JOURNAL   Genomics 45 (2), 434-437 (1997)
   PUBMED   9344673
REFERENCE   10 (residues 1 to 108)
  AUTHORS   Sled VD and Vinogradov AD.
  TITLE     Kinetics of the mitochondrial NADH-ubiquinone oxidoreductase
            interaction with hexammineruthenium(III)
  JOURNAL   Biochim Biophys Acta 1141 (2-3), 262-268 (1993)
   PUBMED   8443212
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI829092.1, BC033766.1,
            CF123536.1 and AP001629.1.
            
            Summary: The protein encoded by this gene is one of at least
            forty-one subunits that make up the NADH-ubiquinone oxidoreductase
            complex. This complex is part of the mitochondrial respiratory
            chain and serves to catalyze the rotenone-sensitive oxidation of
            NADH and the reduction of ubiquinone. The encoded protein is one of
            three proteins found in the flavoprotein fraction of the complex.
            The specific function of the encoded protein is unknown. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (b) has the same
            N- and C-termini but is shorter compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DN992535.1, BC033766.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..108
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..108
                     /product="NADH dehydrogenase [ubiquinone] flavoprotein 3,
                     mitochondrial isoform b precursor"
                     /EC_number="7.1.1.2"
                     /note="NADH-ubiquinone oxidoreductase flavoprotein 3,
                     10kD; complex I 10kDa subunit; NADH-ubiquinone
                     oxidoreductase 9 kD subunit; complex I, mitochondrial
                     respiratory chain, 10-kD subunit; NADH dehydrogenase
                     [ubiquinone] flavoprotein 3, mitochondrial; mitochondrial
                     NADH oxidoreductase-like protein; complex I-9kD; renal
                     carcinoma antigen NY-REN-4; NADH-ubiquinone oxidoreductase
                     9 kDa subunit; NADH dehydrogenase (ubiquinone)
                     flavoprotein 3, 10kDa"
                     /calculated_mol_wt=8369
     transit_peptide 1..34
                     /calculated_mol_wt=3589
     Region          33..72
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P56181.2)"
     mat_peptide     35..108
                     /product="NADH dehydrogenase [ubiquinone] flavoprotein 3,
                     mitochondrial isoform b"
                     /calculated_mol_wt=8369
     Region          67..101
                     /region_name="NDUFV3"
                     /note="NADH dehydrogenase [ubiquinone] flavoprotein 3,
                     mitochondrial; pfam15880"
                     /db_xref="CDD:434991"
     Site            105
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P56181.2)"
     CDS             1..108
                     /gene="NDUFV3"
                     /gene_synonym="CI-10k; CI-9KD"
                     /coded_by="NM_001001503.2:26..352"
                     /note="isoform b precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS33573.1"
                     /db_xref="GeneID:4731"
                     /db_xref="HGNC:HGNC:7719"
                     /db_xref="MIM:602184"
ORIGIN      
        1 maapcllrqg ragalktmlq eaqvfrglas tvslsaesgk sekgqpqnsk kqsppkkpap
       61 vpaepfdntt yknlqhhdys tytfldlnle lskfrmpqps sgresprh
//
LOCUS       NP_996742                996 aa            linear   PRI 26-DEC-2022
DEFINITION  transforming acidic coiled-coil-containing protein 2 isoform c
            [Homo sapiens].
ACCESSION   NP_996742
VERSION     NP_996742.1
DBSOURCE    REFSEQ: accession NM_206860.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 996)
  AUTHORS   Ito Y, Terao Y, Noma S, Tagami M, Yoshida E, Hayashizaki Y, Itoh M
            and Kawaji H.
  TITLE     Nanopore sequencing reveals TACC2 locus complexity and diversity of
            isoforms transcribed from an intronic promoter
  JOURNAL   Sci Rep 11 (1), 9355 (2021)
   PUBMED   33931666
  REMARK    GeneRIF: Nanopore sequencing reveals TACC2 locus complexity and
            diversity of isoforms transcribed from an intronic promoter.
            Erratum:[Sci Rep. 2021 Aug 13;11(1):16835. PMID: 34389798]
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 996)
  AUTHORS   Mallampalli RK, Li X, Jang JH, Kaminski T, Hoji A, Coon T, Chandra
            D, Welty S, Teng Y, Sembrat J, Rojas M, Zhao Y, Lafyatis R, Zou C,
            Sciurba F, Sundd P, Lan L and Nyunoya T.
  TITLE     Cigarette smoke exposure enhances transforming acidic
            coiled-coil-containing protein 2 turnover and thereby promotes
            emphysema
  JOURNAL   JCI Insight 5 (2), 125895 (2020)
   PUBMED   31996486
  REMARK    GeneRIF: Cigarette smoke exposure enhances transforming acidic
            coiled-coil-containing protein 2 turnover and thereby promotes
            emphysema.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 996)
  AUTHORS   Shakya M, Zhou A, Dai D, Zhong Q, Zhou Z, Zhang Y, Li X, Bholee AK
            and Chen M.
  TITLE     High expression of TACC2 in hepatocellular carcinoma is associated
            with poor prognosis
  JOURNAL   Cancer Biomark 22 (4), 611-619 (2018)
   PUBMED   29843208
  REMARK    GeneRIF: This finding suggests that TACC2 may be a useful tool as a
            candidate biomarker to predict the recurrence and prognosis of
            hepatocellular carcinoma.
REFERENCE   4  (residues 1 to 996)
  AUTHORS   Yoshida E, Terao Y, Hayashi N, Mogushi K, Arakawa A, Tanaka Y, Ito
            Y, Ohmiya H, Hayashizaki Y, Takeda S, Itoh M and Kawaji H.
  TITLE     Promoter-level transcriptome in primary lesions of endometrial
            cancer identified biomarkers associated with lymph node metastasis
  JOURNAL   Sci Rep 7 (1), 14160 (2017)
   PUBMED   29074988
  REMARK    GeneRIF: TACC2 protein is expressed mainly in the nucleus of the
            endometrial cancer cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 996)
  AUTHORS   Onodera Y, Takagi K, Miki Y, Takayama K, Shibahara Y, Watanabe M,
            Ishida T, Inoue S, Sasano H and Suzuki T.
  TITLE     TACC2 (transforming acidic coiled-coil protein 2) in breast
            carcinoma as a potent prognostic predictor associated with cell
            proliferation
  JOURNAL   Cancer Med 5 (8), 1973-1982 (2016)
   PUBMED   27333920
  REMARK    GeneRIF: These results suggest that TACC2 plays an important role
            in the cell proliferation of breast carcinoma and therefore
            immunohistochemical TACC2 status is a candidate of worse prognostic
            factor in breast cancer cases.
REFERENCE   6  (residues 1 to 996)
  AUTHORS   Gergely F, Karlsson C, Still I, Cowell J, Kilmartin J and Raff JW.
  TITLE     The TACC domain identifies a family of centrosomal proteins that
            can interact with microtubules
  JOURNAL   Proc Natl Acad Sci U S A 97 (26), 14352-14357 (2000)
   PUBMED   11121038
REFERENCE   7  (residues 1 to 996)
  AUTHORS   Chen HM, Schmeichel KL, Mian IS, Lelievre S, Petersen OW and
            Bissell MJ.
  TITLE     AZU-1: a candidate breast tumor suppressor and biomarker for tumor
            progression
  JOURNAL   Mol Biol Cell 11 (4), 1357-1367 (2000)
   PUBMED   10749935
REFERENCE   8  (residues 1 to 996)
  AUTHORS   Gergely F, Kidd D, Jeffers K, Wakefield JG and Raff JW.
  TITLE     D-TACC: a novel centrosomal protein required for normal spindle
            function in the early Drosophila embryo
  JOURNAL   EMBO J 19 (2), 241-252 (2000)
   PUBMED   10637228
REFERENCE   9  (residues 1 to 996)
  AUTHORS   Still IH, Hamilton M, Vince P, Wolfman A and Cowell JK.
  TITLE     Cloning of TACC1, an embryonically expressed, potentially
            transforming coiled coil containing gene, from the 8p11 breast
            cancer amplicon
  JOURNAL   Oncogene 18 (27), 4032-4038 (1999)
   PUBMED   10435627
REFERENCE   10 (residues 1 to 996)
  AUTHORS   Still IH, Vince P and Cowell JK.
  TITLE     The third member of the transforming acidic coiled coil-containing
            gene family, TACC3, maps in 4p16, close to translocation
            breakpoints in multiple myeloma, and is upregulated in various
            cancer cell lines
  JOURNAL   Genomics 58 (2), 165-170 (1999)
   PUBMED   10366448
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC039311.1, AL135793.13 and
            R46074.1.
            
            Summary: Transforming acidic coiled-coil proteins are a conserved
            family of centrosome- and microtubule-interacting proteins that are
            implicated in cancer. This gene encodes a protein that concentrates
            at centrosomes throughout the cell cycle. This gene lies within a
            chromosomal region associated with tumorigenesis. Expression of
            this gene is induced by erythropoietin and is thought to affect the
            progression of breast tumors. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) uses a different structure for
            its 5' UTR and 5' coding region, and also lacks an internal coding
            exon compared to variant 1. The resulting protein (isoform c) is
            shorter and has a distinct N-terminus compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC039311.1, SRR1803615.93630.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..996
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.13"
     Protein         1..996
                     /product="transforming acidic coiled-coil-containing
                     protein 2 isoform c"
                     /note="anti zuai-1"
                     /calculated_mol_wt=108559
     Region          <205..538
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          790..990
                     /region_name="TACC"
                     /note="Transforming acidic coiled-coil-containing protein
                     (TACC); pfam05010"
                     /db_xref="CDD:428254"
     CDS             1..996
                     /gene="TACC2"
                     /gene_synonym="AZU-1; ECTACC"
                     /coded_by="NM_206860.3:296..3286"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS7628.1"
                     /db_xref="GeneID:10579"
                     /db_xref="HGNC:HGNC:11523"
                     /db_xref="MIM:605302"
ORIGIN      
        1 mggsqslqpa pasdlnleas eamssdseea fetpesttpv kappappppp pevipepevs
       61 tqpppeepgc gsetvpvpdg prsdsvegsp frppshsfsa vfdedkpias sgtynldfdn
      121 ielvdtfqtl eprasdaknq egkvntrrks tdsvpiskst lsrslslqas dfdgasssgn
      181 peavalapda ystgsssass tlkrtkkprp pslkkkqttk kptetppvke tqqepdeesl
      241 vpsgenlase tktesakteg pspalleetp lepavgpkaa cpldsesaeg vvppasgggr
      301 vqnsppvgrk tlplttapea gevtpsdsgg qedspakgls vrlefdysed ksswdnqqen
      361 ppptkkigkk pvakmplrrp kmkktpekld ntpaspprsp aepndipiak gtytfdidkw
      421 ddpnfnpfss tskmqespkl pqqsynfdpd tcdesvdpfk tssktpssps kspasfeipa
      481 sameangvdg dglnkpakkk ktplktdtfr vkkspkrspl sdppsqdptp aatpetppvi
      541 savvhatdee klavtnqkwt cmtvdleadk qdypqpsdls tfvnetkfss pteeldyrns
      601 yeieymekig sslpqdddap kkqalylmfd tsqespvkss pvrmsesptp csgssfeete
      661 alvntaaknq hpvprglapn qeshlqvpek ssqkeleamg lgtpseaiei tapegsfasa
      721 dallsrlahp vslcgaldyl epdlaeknpp lfaqklqrea ahptdvsisk talysrigta
      781 evekpagllf qqpdldsalq iaraeiitke revsewkdky eesrrevmem rkivaeyekt
      841 iaqmiedeqr eksvshqtvq qlvlekeqal adlnsveksl adlfrryekm kevlegfrkn
      901 eevlkrcaqe ylsrvkkeeq ryqalkvhae ekldranaei aqvrgkaqqe qaahqaslrk
      961 eqlrvdaler tleqknkeie eltkicdeli akmgks
//
LOCUS       NP_001317030             619 aa            linear   PRI 26-DEC-2022
DEFINITION  cell division cycle protein 16 homolog isoform 2 [Homo sapiens].
ACCESSION   NP_001317030 XP_006720055
VERSION     NP_001317030.1
DBSOURCE    REFSEQ: accession NM_001330101.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 619)
  AUTHORS   Hu F, Fong KO, Cheung MPL, Liu JA, Liang R, Li TW, Sharma R, Ip PP,
            Yang X and Cheung M.
  TITLE     DEPDC1B Promotes Melanoma Angiogenesis and Metastasis through
            Sequestration of Ubiquitin Ligase CDC16 to Stabilize Secreted
            SCUBE3
  JOURNAL   Adv Sci (Weinh) 9 (10), e2105226 (2022)
   PUBMED   35088579
  REMARK    GeneRIF: DEPDC1B Promotes Melanoma Angiogenesis and Metastasis
            through Sequestration of Ubiquitin Ligase CDC16 to Stabilize
            Secreted SCUBE3.
REFERENCE   2  (residues 1 to 619)
  AUTHORS   Wu H, Zhang X, Shen Q, Liu Y, Gao Y, Wang G, Lv M, Hua R, Xu Y,
            Zhou P, Wei Z, Tao F, He X, Cao Y and Liu M.
  TITLE     A homozygous loss-of-function mutation in FBXO43 causes human
            non-obstructive azoospermia
  JOURNAL   Clin Genet 101 (1), 55-64 (2022)
   PUBMED   34595750
REFERENCE   3  (residues 1 to 619)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 619)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 619)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 619)
  AUTHORS   Grossberger R, Gieffers C, Zachariae W, Podtelejnikov AV,
            Schleiffer A, Nasmyth K, Mann M and Peters JM.
  TITLE     Characterization of the DOC1/APC10 subunit of the yeast and the
            human anaphase-promoting complex
  JOURNAL   J Biol Chem 274 (20), 14500-14507 (1999)
   PUBMED   10318877
REFERENCE   7  (residues 1 to 619)
  AUTHORS   Kallio M, Weinstein J, Daum JR, Burke DJ and Gorbsky GJ.
  TITLE     Mammalian p55CDC mediates association of the spindle checkpoint
            protein Mad2 with the cyclosome/anaphase-promoting complex, and is
            involved in regulating anaphase onset and late mitotic events
  JOURNAL   J Cell Biol 141 (6), 1393-1406 (1998)
   PUBMED   9628895
REFERENCE   8  (residues 1 to 619)
  AUTHORS   Yu H, Peters JM, King RW, Page AM, Hieter P and Kirschner MW.
  TITLE     Identification of a cullin homology region in a subunit of the
            anaphase-promoting complex
  JOURNAL   Science 279 (5354), 1219-1222 (1998)
   PUBMED   9469815
REFERENCE   9  (residues 1 to 619)
  AUTHORS   Ollendorff V and Donoghue DJ.
  TITLE     The serine/threonine phosphatase PP5 interacts with CDC16 and
            CDC27, two tetratricopeptide repeat-containing subunits of the
            anaphase-promoting complex
  JOURNAL   J Biol Chem 272 (51), 32011-32018 (1997)
   PUBMED   9405394
REFERENCE   10 (residues 1 to 619)
  AUTHORS   Tugendreich S, Tomkiel J, Earnshaw W and Hieter P.
  TITLE     CDC27Hs colocalizes with CDC16Hs to the centrosome and mitotic
            spindle and is essential for the metaphase to anaphase transition
  JOURNAL   Cell 81 (2), 261-268 (1995)
   PUBMED   7736578
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC391369.1, AK315302.1,
            U18291.1, BC050575.1 and BM663581.1.
            On Aug 17, 2016 this sequence version replaced XP_006720055.1.
            
            Summary: The protein encoded by this gene functions as a protein
            ubiquitin ligase and is a component of the multiprotein APC
            complex. The APC complex is a cyclin degradation system that
            governs exit from mitosis by targeting cell cycle proteins for
            degredation by the 26S proteasome. Each component protein of the
            APC complex is highly conserved among eukaryotic organisms. This
            protein, and other APC complex proteins, contain a
            tetratricopeptide repeat (TPR) domain; a protein domain that is
            often involved in protein-protein interactions and the assembly of
            multiprotein complexes. Multiple alternatively spliced transcript
            variants, encoding distinct proteins, have been identified.
            [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (5) uses an alternate in-frame
            splice acceptor site in the 5' coding region, compared to variant
            2. Variants 3 and 5 encode the same isoform (2), which is one amino
            acid shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.217193.1,
                                           SRR1803612.174212.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..619
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     Protein         1..619
                     /product="cell division cycle protein 16 homolog isoform
                     2"
                     /note="cell division cycle protein 16 homolog; cell
                     division cycle 16 homolog; anaphase-promoting complex,
                     subunit 6; cyclosome subunit 6"
                     /calculated_mol_wt=71396
     Region          4..33
                     /region_name="TPR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2)"
     Region          10..>501
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     Region          15..93
                     /region_name="ANAPC3"
                     /note="Anaphase-promoting complex, cyclosome, subunit 3;
                     pfam12895"
                     /db_xref="CDD:432860"
     Region          36..64
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          36..61
                     /region_name="TPR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2)"
     Region          69..93
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          69..92
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2)"
     Site            111
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q13042.2)"
     Region          127..158
                     /region_name="TPR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2)"
     Region          163..186
                     /region_name="TPR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2)"
     Region          197..221
                     /region_name="TPR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2)"
     Region          231..259
                     /region_name="TPR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2)"
     Region          266..293
                     /region_name="TPR 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2)"
     Region          297..328
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          298..328
                     /region_name="TPR 9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2)"
     Region          333..361
                     /region_name="TPR 10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2)"
     Region          335..361
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          366..396
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          368..396
                     /region_name="TPR 11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2)"
     Region          370..>510
                     /region_name="PilF"
                     /note="Tfp pilus assembly protein PilF [Cell motility,
                     Extracellular structures]; COG3063"
                     /db_xref="CDD:225605"
     Region          401..433
                     /region_name="TPR 12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2)"
     Region          401..429
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(402,405..406,409..410,412,436,448..449,452..453,
                     455..456,479,482..483,486..487,490)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          434..473
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          441..473
                     /region_name="TPR 13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2)"
     Region          446..510
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     Region          478..507
                     /region_name="TPR 14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2)"
     Region          478..505
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            489
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q13042.2)"
     Site            559
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14657031,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13042.2)"
     Region          573..598
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2)"
     Site            580
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:14657031,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13042.2)"
     Site            594
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q13042.2)"
     Site            598
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q13042.2)"
     CDS             1..619
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /coded_by="NM_001330101.2:189..2048"
                     /note="isoform 2 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS81786.1"
                     /db_xref="GeneID:8881"
                     /db_xref="HGNC:HGNC:1720"
                     /db_xref="MIM:603461"
ORIGIN      
        1 mnlerlrkrv rqyldqqqyq salfwadkva slsrepqdiy wlaqclylta qyhraahalr
       61 srkldklyea crylaarchy aakehqqald vldmeepink rlfekylkde sgfkdpssdw
      121 emsqssikss icllrgkiyd aldnrtlaty sykealkldv ycfeafdllt shhmltaqee
      181 kelleslpls klcneeqell rflfenklkk ynkpsetvip esvdglqenl dvvvslaerh
      241 yyncdfkmcy kltsvvmekd pfhasclpvh igtlvelnka nelfylshkl vdlypsnpvs
      301 wfavgcyylm vghkneharr ylskattlek tygpawiayg hsfavesehd qamaayftaa
      361 qlmkgchlpm lyigleyglt nnsklaerff sqalsiaped pfvmhevgvv afqngewkta
      421 ekwfldalek ikaignevtv dkwepllnnl ghvcrklkky aealdyhrqa lvlipqnast
      481 ysaigyihsl mgnfenavdy fhtalglrrd dtfsvtmlgh ciemyigdse ayigadikdk
      541 lkcydfdvht mktlkniisp pwdfrefeve kqtaeetglt pletsrktpd srpsleetfe
      601 iemnesdmml etsmsdhst
//
LOCUS       NP_001316581             456 aa            linear   PRI 26-DEC-2022
DEFINITION  zinc finger protein 25 isoform b [Homo sapiens].
ACCESSION   NP_001316581
VERSION     NP_001316581.1
DBSOURCE    REFSEQ: accession NM_001329652.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 456)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 456)
  AUTHORS   Twine NA, Harkness L, Kassem M and Wilkins MR.
  TITLE     Transcription factor ZNF25 is associated with osteoblast
            differentiation of human skeletal stem cells
  JOURNAL   BMC Genomics 17 (1), 872 (2016)
   PUBMED   27814695
  REMARK    GeneRIF: This study shows that the uncharacterized transcription
            factor, ZNF25, is associated with differentiation of hMSC to
            osteoblasts.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 456)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   4  (residues 1 to 456)
  AUTHORS   Guy J, Hearn T, Crosier M, Mudge J, Viggiano L, Koczan D, Thiesen
            HJ, Bailey JA, Horvath JE, Eichler EE, Earthrowl ME, Deloukas P,
            French L, Rogers J, Bentley D and Jackson MS.
  TITLE     Genomic sequence and transcriptional profile of the boundary
            between pericentromeric satellites and genes on human chromosome
            arm 10p
  JOURNAL   Genome Res 13 (2), 159-172 (2003)
   PUBMED   12566394
REFERENCE   5  (residues 1 to 456)
  AUTHORS   Guy J, Spalluto C, McMurray A, Hearn T, Crosier M, Viggiano L,
            Miolla V, Archidiacono N, Rocchi M, Scott C, Lee PA, Sulston J,
            Rogers J, Bentley D and Jackson MS.
  TITLE     Genomic sequence and transcriptional profile of the boundary
            between pericentromeric satellites and genes on human chromosome
            arm 10q
  JOURNAL   Hum Mol Genet 9 (13), 2029-2042 (2000)
   PUBMED   10942432
REFERENCE   6  (residues 1 to 456)
  AUTHORS   Tunnacliffe A, Liu L, Moore JK, Leversha MA, Jackson MS, Papi L,
            Ferguson-Smith MA, Thiesen HJ and Ponder BA.
  TITLE     Duplicated KOX zinc finger gene clusters flank the centromere of
            human chromosome 10: evidence for a pericentric inversion during
            primate evolution
  JOURNAL   Nucleic Acids Res 21 (6), 1409-1417 (1993)
   PUBMED   8464732
REFERENCE   7  (residues 1 to 456)
  AUTHORS   Rousseau-Merck MF, Tunnacliffe A, Berger R, Ponder BA and Thiesen
            HJ.
  TITLE     A cluster of expressed zinc finger protein genes in the
            pericentromeric region of human chromosome 10
  JOURNAL   Genomics 13 (3), 845-848 (1992)
   PUBMED   1639412
REFERENCE   8  (residues 1 to 456)
  AUTHORS   Thiesen HJ.
  TITLE     Multiple genes encoding zinc finger domains are expressed in human
            T cells
  JOURNAL   New Biol 2 (4), 363-374 (1990)
   PUBMED   2288909
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL117337.26.
            
            Transcript Variant: This variant (7) encodes isoform b, as do
            variants 4, 5, 6, 8, and 9.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.38530.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1970526,
                                           SAMEA2155751 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..456
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p11.21"
     Protein         1..456
                     /product="zinc finger protein 25 isoform b"
                     /note="zinc finger protein 25 (KOX 19); zinc finger
                     protein KOX19"
                     /calculated_mol_wt=53414
     Region          8..68
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          120..140
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          144..453
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          148..168
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          176..196
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          204..224
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          232..252
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          260..280
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(265,267,269,271..272,275..276,279,293,295,299..300,
                     303..304,307,321,323,325,327..328,331..332,335)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          288..308
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          316..336
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          344..364
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          372..392
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          400..420
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          428..448
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..456
                     /gene="ZNF25"
                     /gene_synonym="KOX19; Zfp9"
                     /coded_by="NM_001329652.2:224..1594"
                     /note="isoform b is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS7195.1"
                     /db_xref="GeneID:219749"
                     /db_xref="HGNC:HGNC:13043"
                     /db_xref="MIM:194528"
ORIGIN      
        1 mnkfqgpvtl kdviveftke ewklltpaqr tlykdvmlen yshlvsvgyh vnkpnavfkl
       61 kqgkepwile vefphrgfpe dlwsihdlea ryqesqagns rngeltkhqk thttekacec
      121 kecgkffcqk salivhqhth skgksydcdk cgksfskned lirhqkihtr dktyeckeck
      181 kifyhlssls rhlrthagek pyecnqceks fyqkphlteh qkthtgekpf ectecgkffy
      241 vkaylmvhqk thtgekpyec kecgkafsqk shltvhqrmh tgekpykcke cgkffsrnsh
      301 lkthqrshtg ekpyeckecr kcfyqksalt vhqrthtgek pfecnkcgkt fyyksdltkh
      361 qrkhtgekpy ectecgksfa vnsvlrlhqr thtgekpyac kecgksfsqk shfiihqrkh
      421 tgekpyecqe cgetfiqksq ltahqkthtk krnaek
//
LOCUS       NP_001340637             458 aa            linear   PRI 26-DEC-2022
DEFINITION  CUGBP Elav-like family member 4 isoform 44 [Homo sapiens].
ACCESSION   NP_001340637 XP_011524393
VERSION     NP_001340637.1
DBSOURCE    REFSEQ: accession NM_001353708.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 458)
  AUTHORS   Teerlink CC, Stevens J, Hernandez R, Facelli JC and Cannon-Albright
            LA.
  TITLE     An intronic variant in the CELF4 gene is associated with risk for
            colorectal cancer
  JOURNAL   Cancer Epidemiol 72, 101941 (2021)
   PUBMED   33930674
  REMARK    GeneRIF: An intronic variant in the CELF4 gene is associated with
            risk for colorectal cancer.
REFERENCE   2  (residues 1 to 458)
  AUTHORS   Barone R, Fichera M, De Grandi M, Battaglia M, Lo Faro V, Mattina T
            and Rizzo R.
  TITLE     Familial 18q12.2 deletion supports the role of RNA-binding protein
            CELF4 in autism spectrum disorders
  JOURNAL   Am J Med Genet A 173 (6), 1649-1655 (2017)
   PUBMED   28407444
  REMARK    GeneRIF: The present study refines the molecular and
            neuropsychiatric phenotype associated with 18q12.2 deletion leading
            to CELF4 haploinsufficiency and provides evidence for a role for
            CELF4 in brain development and autism spectrum disorders.
REFERENCE   3  (residues 1 to 458)
  AUTHORS   Wang X, Sun CL, Quinones-Lombrana A, Singh P, Landier W, Hageman L,
            Mather M, Rotter JI, Taylor KD, Chen YD, Armenian SH, Winick N,
            Ginsberg JP, Neglia JP, Oeffinger KC, Castellino SM, Dreyer ZE,
            Hudson MM, Robison LL, Blanco JG and Bhatia S.
  TITLE     CELF4 Variant and Anthracycline-Related Cardiomyopathy: A
            Children's Oncology Group Genome-Wide Association Study
  JOURNAL   J Clin Oncol 34 (8), 863-870 (2016)
   PUBMED   26811534
  REMARK    GeneRIF: Authors report a modifying effect of a polymorphism of
            CELF4 on the dose-dependent association between anthracyclines and
            cardiomyopathy, which possibly occurs through a pathway that
            involves the expression of abnormally spliced TNNT2 variants.
REFERENCE   4  (residues 1 to 458)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen
            AA, Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke
            L, Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM,
            Tiemeier H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst
            FC, Ward ME, Wright MJ, Davey Smith G, Deary IJ, Johannesson M,
            Plomin R, Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   5  (residues 1 to 458)
  AUTHORS   St Pourcain B, Skuse DH, Mandy WP, Wang K, Hakonarson H, Timpson
            NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding J and Smith GD.
  TITLE     Variability in the common genetic architecture of
            social-communication spectrum phenotypes during childhood and
            adolescence
  JOURNAL   Mol Autism 5 (1), 18 (2014)
   PUBMED   24564958
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 458)
  AUTHORS   Singh G, Charlet-B N, Han J and Cooper TA.
  TITLE     ETR-3 and CELF4 protein domains required for RNA binding and
            splicing activity in vivo
  JOURNAL   Nucleic Acids Res 32 (3), 1232-1241 (2004)
   PUBMED   14973222
  REMARK    GeneRIF: Determination of CELF4 protein domains required for RNA
            splicing.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 458)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 458)
  AUTHORS   Tchernev VT, Mansfield TA, Giot L, Kumar AM, Nandabalan K, Li Y,
            Mishra VS, Detter JC, Rothberg JM, Wallace MR, Southwick FS and
            Kingsmore SF.
  TITLE     The Chediak-Higashi protein interacts with SNARE complex and signal
            transduction proteins
  JOURNAL   Mol Med 8 (1), 56-64 (2002)
   PUBMED   11984006
REFERENCE   9  (residues 1 to 458)
  AUTHORS   Ladd AN, Charlet N and Cooper TA.
  TITLE     The CELF family of RNA binding proteins is implicated in
            cell-specific and developmentally regulated alternative splicing
  JOURNAL   Mol Cell Biol 21 (4), 1285-1296 (2001)
   PUBMED   11158314
REFERENCE   10 (residues 1 to 458)
  AUTHORS   Good PJ, Chen Q, Warner SJ and Herring DC.
  TITLE     A family of human RNA-binding proteins related to the Drosophila
            Bruno translational regulator
  JOURNAL   J Biol Chem 275 (37), 28583-28592 (2000)
   PUBMED   10893231
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC129908.4, AC090386.13 and
            AC015961.16.
            On Jul 21, 2017 this sequence version replaced XP_011524393.1.
            
            Summary: Members of the CELF/BRUNOL protein family contain two
            N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM
            domain, and a divergent segment of 160-230 aa between the second
            and third RRM domains. Members of this protein family regulate
            pre-mRNA alternative splicing and may also be involved in mRNA
            editing, and translation. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.230720.1,
                                           SRR1803614.15688.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..458
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.2"
     Protein         1..458
                     /product="CUGBP Elav-like family member 4 isoform 44"
                     /note="LYST-interacting protein LIP9; CUG-BP- and
                     ETR-3-like factor 4; RNA-binding protein BRUNOL4;
                     bruno-like protein 4; bruno-like 4, RNA binding protein"
                     /calculated_mol_wt=48609
     Region          49..135
                     /region_name="RRM1_CELF3_4_5_6"
                     /note="RNA recognition motif 1 (RRM1) found in CUGBP
                     Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and
                     similar proteins; cd12632"
                     /db_xref="CDD:410041"
     Site            order(55,57,59..60,63,82,84,86,95..97,99,129,131)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410041"
     Region          <56..378
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     Region          151..231
                     /region_name="RRM2_CELF3_4_5_6"
                     /note="RNA recognition motif 2 (RRM2) found in CUGBP
                     Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and
                     similar proteins; cd12635"
                     /db_xref="CDD:410043"
     Site            order(153,155,157..158,161,180,182,184,192..194,196,226,
                     228)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410043"
     Region          <417..457
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     CDS             1..458
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /coded_by="NM_001353708.2:158..1534"
                     /note="isoform 44 is encoded by transcript variant 44"
                     /db_xref="GeneID:56853"
                     /db_xref="HGNC:HGNC:14015"
                     /db_xref="MIM:612679"
ORIGIN      
        1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq
       61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt
      121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee
      181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr
      241 mqqmagqmgm fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma
      301 alnmnglaaa pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan
      361 gihpypaqsp taadplqqay agvqqyagpa aypaaygqis qafpqpppmi pqqqregfvs
      421 fdnpasaqta iqamngfqig mkrlkvqlkr pkdanrpy
//
LOCUS       NP_001349720             814 aa            linear   PRI 27-DEC-2022
DEFINITION  eukaryotic translation initiation factor 3 subunit B isoform 1
            [Homo sapiens].
ACCESSION   NP_001349720 XP_016868241
VERSION     NP_001349720.1
DBSOURCE    REFSEQ: accession NM_001362791.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 814)
  AUTHORS   Fang P, Han Y, Qu Y, Wang X, Zhang Y, Zhang W, Zhang N, Li G and Ma
            W.
  TITLE     EIF3B stabilizes PTGS2 expression by counteracting MDM2-mediated
            ubiquitination to promote the development and progression of
            malignant melanoma
  JOURNAL   Cancer Sci 113 (12), 4181-4192 (2022)
   PUBMED   36050601
  REMARK    GeneRIF: EIF3B stabilizes PTGS2 expression by counteracting
            MDM2-mediated ubiquitination to promote the development and
            progression of malignant melanoma.
REFERENCE   2  (residues 1 to 814)
  AUTHORS   Song S, Liu J, Zhang M, Gao X, Sun W, Liu P, Wang Y and Li J.
  TITLE     Eukaryotic translation initiation factor 3 subunit B could serve as
            a potential prognostic predictor for breast cancer
  JOURNAL   Bioengineered 13 (2), 2762-2776 (2022)
   PUBMED   35040374
  REMARK    GeneRIF: Eukaryotic translation initiation factor 3 subunit B could
            serve as a potential prognostic predictor for breast cancer.
REFERENCE   3  (residues 1 to 814)
  AUTHORS   Zhu F, Fu Y and He X.
  TITLE     EIF3B Associates with Exacerbated Clinical Features, Poor Treatment
            Response and Survival in Adult Philadelphia Chromosome Negative
            Acute Lymphoblastic Leukemia Patients
  JOURNAL   Technol Cancer Res Treat 20, 15330338211041464 (2021)
   PUBMED   34617851
  REMARK    GeneRIF: EIF3B Associates with Exacerbated Clinical Features, Poor
            Treatment Response and Survival in Adult Philadelphia Chromosome
            Negative Acute Lymphoblastic Leukemia Patients.
REFERENCE   4  (residues 1 to 814)
  AUTHORS   Xiang P, Sun Y, Fang Z, Yan K and Fan Y.
  TITLE     Eukaryotic translation initiation factor 3 subunit b is a novel
            oncogenic factor in prostate cancer
  JOURNAL   Mamm Genome 31 (7-8), 197-204 (2020)
   PUBMED   32556998
  REMARK    GeneRIF: Eukaryotic translation initiation factor 3 subunit b is a
            novel oncogenic factor in prostate cancer.
REFERENCE   5  (residues 1 to 814)
  AUTHORS   Ma F, Li X, Ren J, Guo R, Li Y, Liu J, Sun Y, Liu Z, Jia J and Li
            W.
  TITLE     Downregulation of eukaryotic translation initiation factor 3b
            inhibited proliferation and metastasis of gastric cancer
  JOURNAL   Cell Death Dis 10 (9), 623 (2019)
   PUBMED   31423012
  REMARK    GeneRIF: Downregulation of eukaryotic translation initiation factor
            3b inhibited proliferation and metastasis of gastric cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 814)
  AUTHORS   Sizova DV, Kolupaeva VG, Pestova TV, Shatsky IN and Hellen CU.
  TITLE     Specific interaction of eukaryotic translation initiation factor 3
            with the 5' nontranslated regions of hepatitis C virus and
            classical swine fever virus RNAs
  JOURNAL   J Virol 72 (6), 4775-4782 (1998)
   PUBMED   9573242
REFERENCE   7  (residues 1 to 814)
  AUTHORS   Chaudhuri J, Chakrabarti A and Maitra U.
  TITLE     Biochemical characterization of mammalian translation initiation
            factor 3 (eIF3). Molecular cloning reveals that p110 subunit is the
            mammalian homologue of Saccharomyces cerevisiae protein Prt1
  JOURNAL   J Biol Chem 272 (49), 30975-30983 (1997)
   PUBMED   9388245
REFERENCE   8  (residues 1 to 814)
  AUTHORS   Methot N, Rom E, Olsen H and Sonenberg N.
  TITLE     The human homologue of the yeast Prt1 protein is an integral part
            of the eukaryotic initiation factor 3 complex and interacts with
            p170
  JOURNAL   J Biol Chem 272 (2), 1110-1116 (1997)
   PUBMED   8995410
REFERENCE   9  (residues 1 to 814)
  AUTHORS   Asano K, Kinzy TG, Merrick WC and Hershey JW.
  TITLE     Conservation and diversity of eukaryotic translation initiation
            factor eIF3
  JOURNAL   J Biol Chem 272 (2), 1101-1109 (1997)
   PUBMED   8995409
REFERENCE   10 (residues 1 to 814)
  AUTHORS   Kirken RA, Rui H, Evans GA and Farrar WL.
  TITLE     Characterization of an interleukin-2 (IL-2)-induced tyrosine
            phosphorylated 116-kDa protein associated with the IL-2 receptor
            beta-subunit
  JOURNAL   J Biol Chem 268 (30), 22765-22770 (1993)
   PUBMED   7693677
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004971.3, U78525.1 and BC009986.1.
            On Apr 28, 2018 this sequence version replaced XP_016868241.1.
            
            Transcript Variant: This variant (3) differs in the 3' UTR compared
            to variant 2. Variants 1, 2 and 3 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1350181.1,
                                           SRR1803614.241706.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..814
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     Protein         1..814
                     /product="eukaryotic translation initiation factor 3
                     subunit B isoform 1"
                     /note="eukaryotic translation initiation factor 3, subunit
                     9 (eta, 116kD); eukaryotic translation initiation factor
                     3, subunit 9 eta, 116kDa; prt1 homolog; eukaryotic
                     translation initiation factor 3 subunit 9; protein
                     synthesis 1"
                     /calculated_mol_wt=92351
     Region          1..158
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Region          <4..161
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     Site            78
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Site            81
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Site            83
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:18669648;
                     propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Site            85
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:18669648;
                     propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Site            119
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Region          124..413
                     /region_name="Sufficient for interaction with EIF3E"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Site            125
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Site            152
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Site            154
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Site            164
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          170..274
                     /region_name="Sufficient for interaction with EIF3J"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          184..264
                     /region_name="RRM_eIF3B"
                     /note="RNA recognition motif (RRM) found in eukaryotic
                     translation initiation factor 3 subunit B (eIF-3B) and
                     similar proteins; cd12278"
                     /db_xref="CDD:409720"
     Site            order(186,188,190..191,221,230,232,234,262,264)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:409720"
     Site            order(189,192,199,202..203,205..207,209..210,213,249..252,
                     254..255,260..261)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:409720"
     Site            209
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Site            239
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Site            288
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Region          305..805
                     /region_name="COG5354"
                     /note="Uncharacterized protein, contains Trp-Asp (WD)
                     repeat [General function prediction only]"
                     /db_xref="CDD:227657"
     Region          338..371
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Site            364
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Region          366..425
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          376..423
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          426..489
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          429..463
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          467..506
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          490..553
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          514..545
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          554..598
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          556..604
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          599..642
                     /region_name="WD 7"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          612..647
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          643..685
                     /region_name="WD 8"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          654..684
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..814
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /coded_by="NM_001362791.2:96..2540"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS5332.1"
                     /db_xref="GeneID:8662"
                     /db_xref="HGNC:HGNC:3280"
                     /db_xref="MIM:603917"
ORIGIN      
        1 mqdaenvavp eaaeeraepg qqqpaaeppp aegllrpagp gapeaagtea sseevgiaea
       61 gpesevrtep aaeaeaasgp sespsppaae elpgshaepp vpaqgeapge qardersdsr
      121 aqavsedagg negraaeaep ralengdade psfsdpedfv ddvseeellg dvlkdrpqea
      181 dgidsvivvd nvpqvgpdrl eklknvihki fskfgkitnd fypeedgktk gyifleyasp
      241 ahavdavkna dgykldkqht frvnlftdfd kymtisdewd ipekqpfkdl gnlrywleea
      301 ecrdqysvif esgdrtsifw ndvkdpvsie erarwtetyv rwspkgtyla tfhqrgialw
      361 ggekfkqiqr fshqgvqlid fspcerylvt fsplmdtqdd pqaiiiwdil tghkkrgfhc
      421 essahwpifk wshdgkffar mtldtlsiye tpsmglldkk slkisgikdf swspggniia
      481 fwvpedkdip arvtlmqlpt rqeirvrnlf nvvdcklhwq kngdylcvkv drtpkgtqgv
      541 vtnfeifrmr ekqvpvdvve mketiiafaw epngskfavl hgeaprisvs fyhvknngki
      601 elikmfdkqq antifwspqg qfvvlaglrs mngalafvdt sdctvmniae hymasdvewd
      661 ptgryvvtsv swwshkvdna ywlwtfqgrl lqknnkdrfc qllwrprppt llsqeqikqi
      721 kkdlkkyski feqkdrlsqs kaskelverr rtmmedfrky rkmaqelyme qknerlelrg
      781 gvdtdeldsn vddweeetie ffvteeiipl gnqe
//
LOCUS       NP_001311367             283 aa            linear   PRI 27-DEC-2022
DEFINITION  presenilins-associated rhomboid-like protein, mitochondrial isoform
            5 precursor [Homo sapiens].
ACCESSION   NP_001311367
VERSION     NP_001311367.1
DBSOURCE    REFSEQ: accession NM_001324438.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 283)
  AUTHORS   Siebert V, Silber M, Heuten E, Muhle-Goll C and Lemberg MK.
  TITLE     Cleavage of mitochondrial homeostasis regulator PGAM5 by the
            intramembrane protease PARL is governed by transmembrane helix
            dynamics and oligomeric state
  JOURNAL   J Biol Chem 298 (9), 102321 (2022)
   PUBMED   35921890
  REMARK    GeneRIF: Cleavage of mitochondrial homeostasis regulator PGAM5 by
            the intramembrane protease PARL is governed by transmembrane helix
            dynamics and oligomeric state.
REFERENCE   2  (residues 1 to 283)
  AUTHORS   Lysyk L, Brassard R, Touret N and Lemieux MJ.
  TITLE     PARL Protease: A Glimpse at Intramembrane Proteolysis in the Inner
            Mitochondrial Membrane
  JOURNAL   J Mol Biol 432 (18), 5052-5062 (2020)
   PUBMED   32320686
  REMARK    GeneRIF: PARL Protease: A Glimpse at Intramembrane Proteolysis in
            the Inner Mitochondrial Membrane.
            Review article
REFERENCE   3  (residues 1 to 283)
  AUTHORS   Kawamoto Y, Ayaki T, Urushitani M, Ito H and Takahashi R.
  TITLE     Accumulation of HAX-1 and PARL in brainstem- and cortical-type Lewy
            bodies in Parkinson's disease and dementia with Lewy bodies
  JOURNAL   J Neurol Sci 415, 116928 (2020)
   PUBMED   32470650
  REMARK    GeneRIF: Accumulation of HAX-1 and PARL in brainstem- and
            cortical-type Lewy bodies in Parkinson's disease and dementia with
            Lewy bodies.
REFERENCE   4  (residues 1 to 283)
  AUTHORS   Zhang J, Zhao ZJ, Fu X, Niu H, Hu C, Dong Y, Cui MZ, Zhang F, Zeng
            L and Xu X.
  TITLE     Proapoptotic Mitochondrial Carrier Homolog Protein PSAP Mediates
            Death Receptor 6 Induced Apoptosis
  JOURNAL   J Alzheimers Dis 74 (4), 1097-1106 (2020)
   PUBMED   32144986
  REMARK    GeneRIF: Proapoptotic Mitochondrial Carrier Homolog Protein PSAP
            Mediates Death Receptor 6 Induced Apoptosis.
REFERENCE   5  (residues 1 to 283)
  AUTHORS   Saita S, Tatsuta T, Lampe PA, Konig T, Ohba Y and Langer T.
  TITLE     PARL partitions the lipid transfer protein STARD7 between the
            cytosol and mitochondria
  JOURNAL   EMBO J 37 (4) (2018)
   PUBMED   29301859
  REMARK    GeneRIF: PARL preserves mitochondrial membrane homeostasis via
            STARD7 processing and is emerging as a critical regulator of
            protein localization between mitochondria and the cytosol
REFERENCE   6  (residues 1 to 283)
  AUTHORS   Chan EY and McQuibban GA.
  TITLE     The mitochondrial rhomboid protease: its rise from obscurity to the
            pinnacle of disease-relevant genes
  JOURNAL   Biochim Biophys Acta 1828 (12), 2916-2925 (2013)
   PUBMED   24099009
  REMARK    Review article
REFERENCE   7  (residues 1 to 283)
  AUTHORS   Walder K, Kerr-Bayles L, Civitarese A, Jowett J, Curran J, Elliott
            K, Trevaskis J, Bishara N, Zimmet P, Mandarino L, Ravussin E,
            Blangero J, Kissebah A and Collier GR.
  TITLE     The mitochondrial rhomboid protease PSARL is a new candidate gene
            for type 2 diabetes
  JOURNAL   Diabetologia 48 (3), 459-468 (2005)
   PUBMED   15729572
  REMARK    GeneRIF: Variation in PSARL sequence and/or expression may be an
            important new risk factor for type 2 diabetes and other components
            of the metabolic syndrome.
REFERENCE   8  (residues 1 to 283)
  AUTHORS   Sik A, Passer BJ, Koonin EV and Pellegrini L.
  TITLE     Self-regulated cleavage of the mitochondrial intramembrane-cleaving
            protease PARL yields Pbeta, a nuclear-targeted peptide
  JOURNAL   J Biol Chem 279 (15), 15323-15329 (2004)
   PUBMED   14732705
  REMARK    GeneRIF: PARL might mediate a developmentally regulated
            mitochondria-to-nuclei signaling through regulated proteolysis of
            its N terminus and release of the Pbeta peptide
REFERENCE   9  (residues 1 to 283)
  AUTHORS   McQuibban GA, Saurya S and Freeman M.
  TITLE     Mitochondrial membrane remodelling regulated by a conserved
            rhomboid protease
  JOURNAL   Nature 423 (6939), 537-541 (2003)
   PUBMED   12774122
REFERENCE   10 (residues 1 to 283)
  AUTHORS   Pellegrini L, Passer BJ, Canelles M, Lefterov I, Ganjei JK, Fowlkes
            BJ, Koonin EV and D'Adamio L.
  TITLE     PAMP and PARL, two novel putative metalloproteases interacting with
            the COOH-terminus of Presenilin-1 and -2
  JOURNAL   J Alzheimers Dis 3 (2), 181-190 (2001)
   PUBMED   12214059
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC068644.15, AC131160.6 and
            CA417847.1.
            
            Summary: This gene encodes a member of the rhomboid family of
            intramembrane serine proteases that is localized to the inner
            mitochondrial membrane. The encoded protein regulates mitochondrial
            remodeling and apoptosis through regulated substrate proteolysis.
            Proteolytic processing of the encoded protein results in the
            release of a small peptide, P-beta, which may transit to the
            nucleus. Mutations in this gene may be associated with Parkinson's
            disease. [provided by RefSeq, May 2016].
            
            Transcript Variant: This variant (5) encodes isoform 5, which is
            localized to the mitochondria.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.734044.1,
                                           SRR1803614.445399.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..283
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.1"
     Protein         1..283
                     /product="presenilins-associated rhomboid-like protein,
                     mitochondrial isoform 5 precursor"
                     /EC_number="3.4.21.105"
                     /note="mitochondrial intramembrane-cleaving protease PARL;
                     presenilins-associated rhomboid-like protein,
                     mitochondrial; rhomboid 7 homolog 1"
                     /calculated_mol_wt=26052
     transit_peptide 1..52
                     /note="Mitochondrion.
                     /evidence=ECO:0000269|PubMed:14732705; propagated from
                     UniProtKB/Swiss-Prot (Q9H300.2)"
                     /calculated_mol_wt=5771
     mat_peptide     53..77
                     /product="P-beta. /evidence=ECO:0000269|PubMed:14732705.
                     /id=PRO_0000027387"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H300.2)"
                     /calculated_mol_wt=2876
     Site            65
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:17116872; propagated from
                     UniProtKB/Swiss-Prot (Q9H300.2)"
     Site            69
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:17116872; propagated from
                     UniProtKB/Swiss-Prot (Q9H300.2)"
     Site            70
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:17116872; propagated from
                     UniProtKB/Swiss-Prot (Q9H300.2)"
     Site            102..121
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H300.2)"
     Site            168..187
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H300.2)"
     Site            208..230
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H300.2)"
     Region          209..>276
                     /region_name="Rhomboid"
                     /note="Rhomboid family; cl21536"
                     /db_xref="CDD:451297"
     Site            245..262
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H300.2)"
     CDS             1..283
                     /gene="PARL"
                     /gene_synonym="PRO2207; PSARL; PSARL1; PSENIP2; RHBDS1"
                     /coded_by="NM_001324438.2:35..886"
                     /note="isoform 5 precursor is encoded by transcript
                     variant 5"
                     /db_xref="GeneID:55486"
                     /db_xref="HGNC:HGNC:18253"
                     /db_xref="MIM:607858"
ORIGIN      
        1 mawrgwaqrg wgcgqawgas vggrsceelt avltppqllg rrfnffiqqk cgfrkaprkv
       61 eprrsdpgts geaykrsali ppveetvfyp spypirslik plfftvgftg cafgsaaiwq
      121 yeslksrvqs yfdgikadwl dsirpqkegd frkeinkwwn nlsdgqrtvt giiaanvlvf
      181 clwrvpslqr tmiryftsnp askvlcspml lstfshfslf hmaanmyvlw sfsssivnil
      241 gqeqfmavyl sagvisnfvs yvgkvatgry gpslgamvcy lrs
//
LOCUS       NP_001358202             719 aa            linear   PRI 28-DEC-2022
DEFINITION  neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter
            2 isoform 1 [Homo sapiens].
ACCESSION   NP_001358202 XP_011509826
VERSION     NP_001358202.1
DBSOURCE    REFSEQ: accession NM_001371273.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 719)
  AUTHORS   Perry JR, Corre T, Esko T, Chasman DI, Fischer K, Franceschini N,
            He C, Kutalik Z, Mangino M, Rose LM, Vernon Smith A, Stolk L, Sulem
            P, Weedon MN, Zhuang WV, Arnold A, Ashworth A, Bergmann S, Buring
            JE, Burri A, Chen C, Cornelis MC, Couper DJ, Goodarzi MO, Gudnason
            V, Harris T, Hofman A, Jones M, Kraft P, Launer L, Laven JS, Li G,
            McKnight B, Masciullo C, Milani L, Orr N, Psaty BM, Ridker PM,
            Rivadeneira F, Sala C, Salumets A, Schoemaker M, Traglia M, Waeber
            G, Chanock SJ, Demerath EW, Garcia M, Hankinson SE, Hu FB, Hunter
            DJ, Lunetta KL, Metspalu A, Montgomery GW, Murabito JM, Newman AB,
            Ong KK, Spector TD, Stefansson K, Swerdlow AJ, Thorsteinsdottir U,
            Van Dam RM, Uitterlinden AG, Visser JA, Vollenweider P, Toniolo D
            and Murray A.
  CONSRTM   ReproGen Consortium
  TITLE     A genome-wide association study of early menopause and the combined
            impact of identified variants
  JOURNAL   Hum Mol Genet 22 (7), 1465-1472 (2013)
   PUBMED   23307926
REFERENCE   2  (residues 1 to 719)
  AUTHORS   Yokoyama K, Tezuka T, Kotani M, Nakazawa T, Hoshina N, Shimoda Y,
            Kakuta S, Sudo K, Watanabe K, Iwakura Y and Yamamoto T.
  TITLE     NYAP: a phosphoprotein family that links PI3K to WAVE1 signalling
            in neurons
  JOURNAL   EMBO J 30 (23), 4739-4754 (2011)
   PUBMED   21946561
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 719)
  AUTHORS   de Miguel-Yanes JM, Shrader P, Pencina MJ, Fox CS, Manning AK,
            Grant RW, Dupuis J, Florez JC, D'Agostino RB Sr, Cupples LA and
            Meigs JB.
  CONSRTM   MAGIC Investigators; DIAGRAM+ Investigators
  TITLE     Genetic risk reclassification for type 2 diabetes by age below or
            above 50 years using 40 type 2 diabetes risk single nucleotide
            polymorphisms
  JOURNAL   Diabetes Care 34 (1), 121-125 (2011)
   PUBMED   20889853
  REMARK    GeneRIF: Observational study of gene-disease association, gene-gene
            interaction, and gene-environment interaction. (HuGE Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC067961.8, AC019231.7 and AC016717.8.
            On Jul 6, 2019 this sequence version replaced XP_011509826.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            CDS exon combination :: ERR4352442.159625.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2145743, SAMEA2157437 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000272907.8/ ENSP00000272907.7
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, expression, longest
                                         protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..719
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q36.3"
     Protein         1..719
                     /product="neuronal tyrosine-phosphorylated
                     phosphoinositide-3-kinase adapter 2 isoform 1"
                     /note="neuronal tyrosine-phosphorylated
                     phosphoinositide-3-kinase adapter 2"
                     /calculated_mol_wt=78203
     Region          56..445
                     /region_name="NYAP_N"
                     /note="Neuronal tyrosine-phosphorylated
                     phosphoinositide-3-kinase adapter; pfam15439"
                     /db_xref="CDD:434718"
     Site            81
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8BM65; propagated from
                     UniProtKB/Swiss-Prot (Q9P242.3)"
     Region          99..243
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P242.3)"
     Site            120
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BM65; propagated from
                     UniProtKB/Swiss-Prot (Q9P242.3)"
     Region          150..161
                     /region_name="Involved in CYFIP1-and NCKAP1-binding.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P242.3)"
     Site            206
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BM65; propagated from
                     UniProtKB/Swiss-Prot (Q9P242.3)"
     Site            268
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q8BM65; propagated from
                     UniProtKB/Swiss-Prot (Q9P242.3)"
     Site            434
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9P242.3)"
     Region          472..719
                     /region_name="NYAP_C"
                     /note="Neuronal tyrosine-phosphorylated
                     phosphoinositide-3-kinase adapter; pfam15452"
                     /db_xref="CDD:434727"
     CDS             1..719
                     /gene="NYAP2"
                     /gene_synonym="KIAA1486"
                     /coded_by="NM_001371273.1:1047..3206"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS92950.1"
                     /db_xref="GeneID:57624"
                     /db_xref="HGNC:HGNC:29291"
                     /db_xref="MIM:615478"
ORIGIN      
        1 misskmmssn peedpldtfl qyiedmgmka ydglviqnas diarendrlr netnlaylke
       61 knekrrrqee aikriggevg rghegsyvgk hfrmgfmtmp apqdrlphpc ssgfsvrsqs
      121 lhsvggtddd sscgsrrqpp pkpkrdpstk lstssetvss taasksgktp erteasakpr
      181 phsdeyskki pppkpkrnpn tqlstsfdet yikkhgprrt slprdsslsq mgspagdpee
      241 eepvyiemvg nilrdfrked ddqseavyee mkypifddlg qdakcdfdhh scssqcatpt
      301 vpdldfakas vpcppkgllc dipppfpnll shrppllvfp papvhcspns despltplev
      361 tklpvlenvs ymkqpagasp stlpshvpgh aklekeqaaa lgpasatpal sssppppstl
      421 yrtqsphgyp kshstspspv smgrsltpls lkrpppydav hsgslsrssp svphstprpv
      481 sqdgakmvna avntygaapg gsrsrtptsp leeltslfss grsllrksss grrskepaek
      541 steelkvrsh steplpkldn kerghhgass srepvkaqew dgtpgtpvvt srlgrcsvsp
      601 tllagnhsse pkvscklgrs astsgvppps vtplrqssdl qqsqvacmqw fhgdhtmlem
      661 iekkrclcke ikarqktekg lckqdsmpil pswkknagak kyspppyskq qtvfwdtai
//
LOCUS       NP_001154887             367 aa            linear   PRI 29-DEC-2022
DEFINITION  uracil nucleotide/cysteinyl leukotriene receptor isoform a [Homo
            sapiens].
ACCESSION   NP_001154887
VERSION     NP_001154887.1
DBSOURCE    REFSEQ: accession NM_001161415.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 367)
  AUTHORS   Nguyen P, Doan P, Murugesan A, Ramesh T, Rimpilainen T, Candeias
            NR, Yli-Harja O and Kandhavelu M.
  TITLE     GPR17 signaling activation by CHBC agonist induced cell death via
            modulation of MAPK pathway in glioblastoma
  JOURNAL   Life Sci 291, 120307 (2022)
   PUBMED   35016881
  REMARK    GeneRIF: GPR17 signaling activation by CHBC agonist induced cell
            death via modulation of MAPK pathway in glioblastoma.
REFERENCE   2  (residues 1 to 367)
  AUTHORS   Lin KN, Zhang K, Zhao W, Huang SY and Li H.
  TITLE     Insulin-like Growth Factor 1 Promotes Cell Proliferation by
            Downregulation of G-Protein-Coupled Receptor 17 Expression via
            PI3K/Akt/FoxO1 Signaling in SK-N-SH Cells
  JOURNAL   Int J Mol Sci 23 (3), 1513 (2022)
   PUBMED   35163437
  REMARK    GeneRIF: Insulin-like Growth Factor 1 Promotes Cell Proliferation
            by Downregulation of G-Protein-Coupled Receptor 17 Expression via
            PI3K/Akt/FoxO1 Signaling in SK-N-SH Cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 367)
  AUTHORS   Hu Y, Luo H, Zhu X and Guo H.
  TITLE     CRNDE/ETS1/GPR17 Facilitates the Proliferation, Migration, and
            Invasion of Glioma
  JOURNAL   Comput Math Methods Med 2021, 7566365 (2021)
   PUBMED   34853603
  REMARK    GeneRIF: CRNDE/ETS1/GPR17 Facilitates the Proliferation, Migration,
            and Invasion of Glioma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 367)
  AUTHORS   Conley JM, Sun H, Ayers KL, Zhu H, Chen R, Shen M, Hall MD and Ren
            H.
  TITLE     Human GPR17 missense variants identified in metabolic disease
            patients have distinct downstream signaling profiles
  JOURNAL   J Biol Chem 297 (1), 100881 (2021)
   PUBMED   34144038
  REMARK    GeneRIF: Human GPR17 missense variants identified in metabolic
            disease patients have distinct downstream signaling profiles.
REFERENCE   5  (residues 1 to 367)
  AUTHORS   Liu H, Xing R, Ou Z, Zhao J, Hong G, Zhao TJ, Han Y and Chen Y.
  TITLE     G-protein-coupled receptor GPR17 inhibits glioma development by
            increasing polycomb repressive complex 1-mediated ROS production
  JOURNAL   Cell Death Dis 12 (6), 610 (2021)
   PUBMED   34120140
  REMARK    GeneRIF: G-protein-coupled receptor GPR17 inhibits glioma
            development by increasing polycomb repressive complex 1-mediated
            ROS production.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 367)
  AUTHORS   Dowal L, Provitera P and Scarlata S.
  TITLE     Stable association between G alpha(q) and phospholipase C beta 1 in
            living cells
  JOURNAL   J Biol Chem 281 (33), 23999-24014 (2006)
   PUBMED   16754659
REFERENCE   7  (residues 1 to 367)
  AUTHORS   Blasius R, Weber RG, Lichter P and Ogilvie A.
  TITLE     A novel orphan G protein-coupled receptor primarily expressed in
            the brain is localized on human chromosomal band 2q21
  JOURNAL   J Neurochem 70 (4), 1357-1365 (1998)
   PUBMED   9523551
REFERENCE   8  (residues 1 to 367)
  AUTHORS   Macrez-Lepretre N, Kalkbrenner F, Morel JL, Schultz G and Mironneau
            J.
  TITLE     G protein heterotrimer Galpha13beta1gamma3 couples the angiotensin
            AT1A receptor to increases in cytoplasmic Ca2+ in rat portal vein
            myocytes
  JOURNAL   J Biol Chem 272 (15), 10095-10102 (1997)
   PUBMED   9092554
REFERENCE   9  (residues 1 to 367)
  AUTHORS   Raport CJ, Schweickart VL, Chantry D, Eddy RL Jr, Shows TB, Godiska
            R and Gray PW.
  TITLE     New members of the chemokine receptor gene family
  JOURNAL   J Leukoc Biol 59 (1), 18-23 (1996)
   PUBMED   8558062
  REMARK    Review article
REFERENCE   10 (residues 1 to 367)
  AUTHORS   Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M and Kaziro Y.
  TITLE     Presence of three distinct molecular species of Gi protein alpha
            subunit. Structure of rat cDNAs and human genomic DNAs
  JOURNAL   J Biol Chem 263 (14), 6656-6664 (1988)
   PUBMED   2834384
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA366480.1, DA314295.1 and BC039595.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Both variants 1 and
            2 encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR14038191.486757.1, DA314295.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2154665, SAMN03465404 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.3"
     Protein         1..367
                     /product="uracil nucleotide/cysteinyl leukotriene receptor
                     isoform a"
                     /note="uracil nucleotide/cysteinyl leukotriene receptor;
                     R12; P2Y-like receptor; UDP/CysLT receptor"
                     /calculated_mol_wt=40859
     Region          1..28
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13304.2)"
     Site            42
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13304.2)"
     Region          60..336
                     /region_name="7tmA_GPR17"
                     /note="G protein-coupled receptor 17, member of the class
                     A family of seven-transmembrane G protein-coupled
                     receptors; cd15161"
                     /db_xref="CDD:320289"
     Region          60..87
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320289"
     Site            65..85
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13304.2)"
     Site            93..113
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13304.2)"
     Region          94..119
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320289"
     Site            order(115,118..119,132..137,139..140,143,188,190..194,217,
                     220..222,224..226,228..229,276,279..280,282..283,286,
                     303..304,306..308,311,314..315)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320289"
     Region          132..162
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320289"
     Site            134..154
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13304.2)"
     Region          174..196
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320289"
     Site            176..196
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13304.2)"
     Site            204
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13304.2)"
     Region          217..246
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320289"
     Site            224..244
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13304.2)"
     Region          256..286
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320289"
     Site            261..281
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13304.2)"
     Site            282
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13304.2)"
     Region          304..329
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320289"
     Site            309..329
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13304.2)"
     CDS             1..367
                     /gene="GPR17"
                     /coded_by="NM_001161415.2:323..1426"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2148.1"
                     /db_xref="GeneID:2840"
                     /db_xref="HGNC:HGNC:4471"
                     /db_xref="MIM:603071"
ORIGIN      
        1 mskrswwags rkppremlkl sgsdssqsmn glevappgli tnfslataeq cgqetplenm
       61 lfasfylldf ilalvgntla lwlfirdhks gtpanvflmh lavadlscvl vlptrlvyhf
      121 sgnhwpfgei acrltgflfy lnmyasiyfl tcisadrfla ivhpvkslkl rrplyahlac
      181 aflwvvvava mapllvspqt vqtnhtvvcl qlyrekashh alvslavaft fpfittvtcy
      241 lliirslrqg lrvekrlktk avrmiaivla iflvcfvpyh vnrsvyvlhy rshgascatq
      301 rilalanrit scltslngal dpimyffvae kfrhalcnll cgkrlkgppp sfegktness
      361 lsaksel
//
LOCUS       NP_001369585             361 aa            linear   PRI 29-DEC-2022
DEFINITION  muscleblind-like protein 2 isoform 3 [Homo sapiens].
ACCESSION   NP_001369585
VERSION     NP_001369585.1
DBSOURCE    REFSEQ: accession NM_001382656.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 361)
  AUTHORS   Cai J, Wang N, Lin G, Zhang H, Xie W, Zhang Y and Xu N.
  TITLE     MBNL2 Regulates DNA Damage Response via Stabilizing p21
  JOURNAL   Int J Mol Sci 22 (2), 783 (2021)
   PUBMED   33466733
  REMARK    GeneRIF: MBNL2 Regulates DNA Damage Response via Stabilizing p21.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 361)
  AUTHORS   Zhao A, Li Y, Niu M, Li G, Luo N, Zhou L, Kang W and Liu J.
  TITLE     SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with
            Parkinson's disease in southern Chinese population
  JOURNAL   J Cell Mol Med 24 (15), 8744-8752 (2020)
   PUBMED   32652860
  REMARK    GeneRIF: SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated
            with Parkinson's disease in southern Chinese population.
REFERENCE   3  (residues 1 to 361)
  AUTHORS   Fischer S, Di Liddo A, Taylor K, Gerhardus JS, Sobczak K, Zarnack K
            and Weigand JE.
  TITLE     Muscleblind-like 2 controls the hypoxia response of cancer cells
  JOURNAL   RNA 26 (5), 648-663 (2020)
   PUBMED   32127384
  REMARK    GeneRIF: MBNL2 induction was critical for hypoxia adaptation by
            controlling the transcript abundance of hypoxia response genes,
            such as vascular endothelial growth factor A (VEGFA) MBNL2
            depletion reduced the proliferation and migration of cancer cells,
            demonstrating an important role of MBNL2 as cancer driver.
REFERENCE   4  (residues 1 to 361)
  AUTHORS   Cerro-Herreros E, Sabater-Arcis M, Fernandez-Costa JM, Moreno N,
            Perez-Alonso M, Llamusi B and Artero R.
  TITLE     miR-23b and miR-218 silencing increase Muscleblind-like expression
            and alleviate myotonic dystrophy phenotypes in mammalian models
  JOURNAL   Nat Commun 9 (1), 2482 (2018)
   PUBMED   29946070
  REMARK    GeneRIF: Functional depletion of the alternative splicing factors
            Muscleblind-like (MBNL 1 and 2) is at the basis of the
            neuromuscular disease myotonic dystrophy type 1 (DM1). Here, we
            screen for miRNAs that regulate MBNL1 and MBNL2 in HeLa cells. We
            thus identify miR-23b and miR-218, and confirm that they
            downregulate MBNL proteins in this cell line.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 361)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (residues 1 to 361)
  AUTHORS   Paul S, Dansithong W, Kim D, Rossi J, Webster NJ, Comai L and Reddy
            S.
  TITLE     Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in
            DM1-associated aberrant IR splicing
  JOURNAL   EMBO J 25 (18), 4271-4283 (2006)
   PUBMED   16946708
REFERENCE   7  (residues 1 to 361)
  AUTHORS   Adereth Y, Dammai V, Kose N, Li R and Hsu T.
  TITLE     RNA-dependent integrin alpha3 protein localization regulated by the
            Muscleblind-like protein MLP1
  JOURNAL   Nat Cell Biol 7 (12), 1240-1247 (2005)
   PUBMED   16273094
  REMARK    Erratum:[Nat Cell Biol. 2006 Jan;8(1):100]
REFERENCE   8  (residues 1 to 361)
  AUTHORS   Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS and Cooper TA.
  TITLE     Muscleblind proteins regulate alternative splicing
  JOURNAL   EMBO J 23 (15), 3103-3112 (2004)
   PUBMED   15257297
  REMARK    GeneRIF: MBNL proteins promote opposite splicing patterns for
            cardiac troponin T and insulin receptor alternative exons
REFERENCE   9  (residues 1 to 361)
  AUTHORS   Christian SL, McDonough J, Liu Cy CY, Shaikh S, Vlamakis V, Badner
            JA, Chakravarti A and Gershon ES.
  TITLE     An evaluation of the assembly of an approximately 15-Mb region on
            human chromosome 13q32-q33 linked to bipolar disorder and
            schizophrenia
  JOURNAL   Genomics 79 (5), 635-656 (2002)
   PUBMED   11991713
REFERENCE   10 (residues 1 to 361)
  AUTHORS   Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS
            and Brook JD.
  TITLE     Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with
            nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
  JOURNAL   Hum Mol Genet 11 (7), 805-814 (2002)
   PUBMED   11929853
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359925.9, AL161430.19 and
            AL442067.16.
            
            Summary: This gene is a member of the muscleblind protein family
            which was initially described in Drosophila melanogaster. This gene
            encodes a C3H-type zinc finger protein that modulates alternative
            splicing of pre-mRNAs. Muscleblind proteins bind specifically to
            expanded dsCUG RNA but not to normal size CUG repeats and may
            thereby play a role in the pathophysiology of myotonic dystrophy.
            Several alternatively spliced transcript variants have been
            described but the full-length natures of only some have been
            determined. [provided by RefSeq, Mar 2012].
            
            Transcript Variant: This variant (11), as well as variants 3, 7-10,
            and 12-14, encodes isoform 3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1276354.1,
                                           SRR1803611.178304.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..361
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.1"
     Protein         1..361
                     /product="muscleblind-like protein 2 isoform 3"
                     /note="muscleblind-like protein 2; muscleblind-like
                     protein 1; muscleblind-like protein-like 39;
                     muscleblind-like 2"
                     /calculated_mol_wt=39225
     Region          17..40
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     Region          178..202
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     CDS             1..361
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /coded_by="NM_001382656.1:747..1832"
                     /note="isoform 3 is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS9483.1"
                     /db_xref="GeneID:10150"
                     /db_xref="HGNC:HGNC:16746"
                     /db_xref="MIM:607327"
ORIGIN      
        1 malnvapvrd tkwltlevcr qfqrgtcsrs deeckfahpp kscqvengrv iacfdslkgr
       61 csrenckylh ppthlktqle ingrnnliqq ktaaamlaqq mqfmfpgtpl hpvptfpvgp
      121 aigtntaisf apylapvtpg vglvpteilp ttpvivpgsp pvtvpgstat qkllrtdkle
      181 vcrefqrgnc argetdcrfa hpadstmidt sdntvtvcmd yikgrcmrek ckyfhppahl
      241 qakikaaqhq anqaavaaqa aaaaatvmaf ppgalhplpk rqaleksngt savfnpsvlh
      301 yqqaltsaql qqhaafiptd nseiisrngm ecqesalrit khcyctyypv sssielpqta
      361 c
//
LOCUS       NP_004632               1027 aa            linear   PRI 30-DEC-2022
DEFINITION  protein AF-10 isoform a [Homo sapiens].
ACCESSION   NP_004632
VERSION     NP_004632.1
DBSOURCE    REFSEQ: accession NM_004641.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1027)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (residues 1 to 1027)
  AUTHORS   Klein BJ, Deshpande A, Cox KL, Xuan F, Zandian M, Barbosa K, Khanal
            S, Tong Q, Zhang Y, Zhang P, Sinha A, Bohlander SK, Shi X, Wen H,
            Poirier MG, Deshpande AJ and Kutateladze TG.
  TITLE     The role of the PZP domain of AF10 in acute leukemia driven by AF10
            translocations
  JOURNAL   Nat Commun 12 (1), 4130 (2021)
   PUBMED   34226546
  REMARK    GeneRIF: The role of the PZP domain of AF10 in acute leukemia
            driven by AF10 translocations.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1027)
  AUTHORS   Ugurlu-Cimen D, Odluyurt D, Sevinc K, Ozkan-Kucuk NE, Ozcimen B,
            Demirtas D, Enustun E, Aztekin C, Philpott M, Oppermann U, Ozlu N
            and Onder TT.
  TITLE     AF10 (MLLT10) prevents somatic cell reprogramming through
            regulation of DOT1L-mediated H3K79 methylation
  JOURNAL   Epigenetics Chromatin 14 (1), 32 (2021)
   PUBMED   34215314
  REMARK    GeneRIF: AF10 (MLLT10) prevents somatic cell reprogramming through
            regulation of DOT1L-mediated H3K79 methylation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1027)
  AUTHORS   Chen BR, Deshpande A, Barbosa K, Kleppe M, Lei X, Yeddula N, Vela
            PS, Campos AR, Wechsler-Reya RJ, Bagchi A, Meshinchi S, Eaves C,
            Jeremias I, Haferlach T, Frank DA, Ronai Z, Chanda S, Armstrong SA,
            Adams PD, Levine RL and Deshpande AJ.
  TITLE     A JAK/STAT-mediated inflammatory signaling cascade drives
            oncogenesis in AF10-rearranged AML
  JOURNAL   Blood 137 (24), 3403-3415 (2021)
   PUBMED   33690798
  REMARK    GeneRIF: A JAK/STAT-mediated inflammatory signaling cascade drives
            oncogenesis in AF10-rearranged AML.
REFERENCE   5  (residues 1 to 1027)
  AUTHORS   Deutsch JL and Heath JL.
  TITLE     MLLT10 in benign and malignant hematopoiesis
  JOURNAL   Exp Hematol 87, 1-12 (2020)
   PUBMED   32569758
  REMARK    GeneRIF: MLLT10 in benign and malignant hematopoiesis.
            Review article
REFERENCE   6  (residues 1 to 1027)
  AUTHORS   de Bruijn DR, dos Santos NR, Thijssen J, Balemans M, Debernardi S,
            Linder B, Young BD and Geurts van Kessel A.
  TITLE     The synovial sarcoma associated protein SYT interacts with the
            acute leukemia associated protein AF10
  JOURNAL   Oncogene 20 (25), 3281-3289 (2001)
   PUBMED   11423977
REFERENCE   7  (residues 1 to 1027)
  AUTHORS   Lillington DM, Jaju RJ, Shankar AG, Neat M, Kearney L, Young BD and
            Saha V.
  TITLE     Cytogenetic and molecular evidence of marrow involvement in
            extramedullary acute myeloid leukaemia
  JOURNAL   Br J Haematol 110 (3), 547-551 (2000)
   PUBMED   10997963
REFERENCE   8  (residues 1 to 1027)
  AUTHORS   Linder B, Newman R, Jones LK, Debernardi S, Young BD, Freemont P,
            Verrijzer CP and Saha V.
  TITLE     Biochemical analyses of the AF10 protein: the extended
            LAP/PHD-finger mediates oligomerisation
  JOURNAL   J Mol Biol 299 (2), 369-378 (2000)
   PUBMED   10860745
REFERENCE   9  (residues 1 to 1027)
  AUTHORS   Silliman CC, McGavran L, Wei Q, Miller LA, Li S and Hunger SP.
  TITLE     Alternative splicing in wild-type AF10 and CALM cDNAs and in
            AF10-CALM and CALM-AF10 fusion cDNAs produced by the
            t(10;11)(p13-14;q14-q21) suggests a potential role for truncated
            AF10 polypeptides
  JOURNAL   Leukemia 12 (9), 1404-1410 (1998)
   PUBMED   9737689
REFERENCE   10 (residues 1 to 1027)
  AUTHORS   Chaplin T, Ayton P, Bernard OA, Saha V, Della Valle V, Hillion J,
            Gregorini A, Lillington D, Berger R and Young BD.
  TITLE     A novel class of zinc finger/leucine zipper genes identified from
            the molecular cloning of the t(10;11) translocation in acute
            leukemia
  JOURNAL   Blood 85 (6), 1435-1441 (1995)
   PUBMED   7888665
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC032532.1, U13948.1,
            AB209755.1 and BX640774.1.
            
            Summary: This gene encodes a transcription factor and has been
            identified as a partner gene involved in several chromosomal
            rearrangements resulting in various leukemias. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Sep 2010].
            
            Transcript Variant: This variant (1) encodes isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U13948.1, SRR14038194.2270839.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1027
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.31"
     Protein         1..1027
                     /product="protein AF-10 isoform a"
                     /note="type I AF10 protein; ALL1-fused gene from
                     chromosome 10 protein; type III AF10 protein; type IV AF10
                     protein; myeloid/lymphoid or mixed-lineage leukemia
                     (trithorax homolog, Drosophila); translocated to, 10;
                     myeloid/lymphoid or mixed-lineage leukemia; translocated
                     to, 10"
                     /calculated_mol_wt=108895
     Region          24..71
                     /region_name="PHD_AF10_AF17"
                     /note="PHD finger found in protein AF-10 and AF-17;
                     cd15574"
                     /db_xref="CDD:277049"
     Site            order(24,38..42,48,66)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277049"
     Region          78..206
                     /region_name="ePHD_AF10"
                     /note="Extended PHD finger found in protein AF-10 and
                     similar proteins; cd15708"
                     /db_xref="CDD:277178"
     Site            order(136,153..157,163,192)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277178"
     Region          731..794
                     /region_name="CC_AF10"
                     /note="coiled coil domain of ALL1-Fused gene from
                     chromosome 10 protein (AF10) and similar proteins;
                     cd20901"
                     /db_xref="CDD:411015"
     Site            order(759,762..763,766..767,769..770,773..774,777,
                     780..781,783..784,787)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:411015"
     CDS             1..1027
                     /gene="MLLT10"
                     /gene_synonym="AF10"
                     /coded_by="NM_004641.4:290..3373"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7135.1"
                     /db_xref="GeneID:8028"
                     /db_xref="HGNC:HGNC:16063"
                     /db_xref="MIM:602409"
ORIGIN      
        1 mvssdrpvsl edevshsmke miggccvcsd ergwaenplv ycdghgcsva vhqacygivq
       61 vptgpwfcrk cesqeraarv rcelcphkdg alkrtdnggw ahvvcalyip evqfanvstm
      121 epivlqsvph drynktcyic deqgreskaa tgacmtcnkh gcrqafhvtc aqfagllcee
      181 egngadnvqy cgyckyhfsk lkkskrgsnr sydqslsdss shsqdkhhek ekkkykekdk
      241 hkqkhkkqpe pspalvpslt vttektytst snnsisgslk rledttarft nanfqevsah
      301 tssgkdvset rgsegkgkks sahssgqrgr kpgggrnpgt tvsaaspfpq gsfsgtpgsv
      361 ksssgssvqs pqdflsftds dlrndsyshs qqssatkdvh kgesgsqegg vnsfstligl
      421 pstsavtsqp ksfenspgdl gnsslptagy kraqtsgiee etvkekkrkg nkqskhgpgr
      481 pkgnknqenv shlsvssasp tssvasaags itssslqksp tllrngslqs lsvgsspvgs
      541 eismqyrhdg acptttfsel lnaihndrgd sstltkqelk figiynsndv avsfpnvvsg
      601 sgsstpvsss hlpqqssghl qqvgalspsa vssaapavat tqantlsgss lsqapshmyg
      661 nrsnssmaal iaqsennqtd qdlgdnsrnl vgrgssprgs lsprspvssl qirydqpgns
      721 slenlppvaa sieqllerqw segqqflleq gtpsdilgml kslhqlqven rrleeqiknl
      781 takkerlqll naqlsvpfpt itanpspshq ihtfsaqtap ttdslnssks phignsflpd
      841 nslpvlnqdl tssgqstsss salstpppag qspaqqgsgv sgvqqvngvt vgalasgmqp
      901 vtstipavsa vggiigalpg nqlaingivg alngvmqtpv tmsqnptplt httvppnath
      961 pmpatltnsa sglgllsdqq rqilihqqqf qqllnsqqlt pvhrhphftq lppthfspsm
     1021 eimqvrk
//
LOCUS       NP_001242952             205 aa            linear   PRI 30-DEC-2022
DEFINITION  chloride intracellular channel protein 5 isoform c [Homo sapiens].
ACCESSION   NP_001242952
VERSION     NP_001242952.1
DBSOURCE    REFSEQ: accession NM_001256023.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 205)
  AUTHORS   Wonkam-Tingang E, Schrauwen I, Esoh KK, Bharadwaj T, Nouel-Saied
            LM, Acharya A, Nasir A, Adadey SM, Mowla S, Leal SM and Wonkam A.
  TITLE     Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian
            Multiplex Family with Non-Syndromic Hearing Impairment
  JOURNAL   Genes (Basel) 11 (11), 1249 (2020)
   PUBMED   33114113
  REMARK    GeneRIF: Bi-Allelic Novel Variants in CLIC5 Identified in a
            Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 205)
  AUTHORS   Neveu B, Spinella JF, Richer C, Lagace K, Cassart P, Lajoie M,
            Jananji S, Drouin S, Healy J, Hickson GR and Sinnett D.
  TITLE     CLIC5: a novel ETV6 target gene in childhood acute lymphoblastic
            leukemia
  JOURNAL   Haematologica 101 (12), 1534-1543 (2016)
   PUBMED   27540136
  REMARK    GeneRIF: loss of ETV6 leads to significant overexpression of CLIC5,
            which in turn leads to decreased lysosome-mediated apoptosis. Our
            data suggest that heightened CLIC5 activity could promote a
            permissive environment for oxidative stress-induced DNA damage
            accumulation, and thereby contribute to leukemogenesis.
REFERENCE   3  (residues 1 to 205)
  AUTHORS   Tavasoli M, Al-Momany A, Wang X, Li L, Edwards JC and Ballermann
            BJ.
  TITLE     Both CLIC4 and CLIC5A activate ERM proteins in glomerular
            endothelium
  JOURNAL   Am J Physiol Renal Physiol 311 (5), F945-F957 (2016)
   PUBMED   27582103
REFERENCE   4  (residues 1 to 205)
  AUTHORS   Ponnalagu D, Rao SG, Farber J, Xin W, Hussain AT, Shah K, Tanda S,
            Berryman MA, Edwards JC and Singh H.
  TITLE     Data supporting characterization of CLIC1, CLIC4, CLIC5 and DmCLIC
            antibodies and localization of CLICs in endoplasmic reticulum of
            cardiomyocytes
  JOURNAL   Data Brief 7, 1038-1044 (2016)
   PUBMED   27104215
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 205)
  AUTHORS   Flores-Tellez TN, Lopez TV, Vasquez Garzon VR and Villa-Trevino S.
  TITLE     Co-Expression of Ezrin-CLIC5-Podocalyxin Is Associated with
            Migration and Invasiveness in Hepatocellular Carcinoma
  JOURNAL   PLoS One 10 (7), e0131605 (2015)
   PUBMED   26135398
  REMARK    GeneRIF: EZR, CLIC5 and PODXL are overexpressed in hepatocellular
            carcinoma and may have a role in cell migration and invasiveness
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 205)
  AUTHORS   Edwards JC, Cohen C, Xu W and Schlesinger PH.
  TITLE     c-Src control of chloride channel support for osteoclast HCl
            transport and bone resorption
  JOURNAL   J Biol Chem 281 (38), 28011-28022 (2006)
   PUBMED   16831863
REFERENCE   7  (residues 1 to 205)
  AUTHORS   Berryman M, Bruno J, Price J and Edwards JC.
  TITLE     CLIC-5A functions as a chloride channel in vitro and associates
            with the cortical actin cytoskeleton in vitro and in vivo
  JOURNAL   J Biol Chem 279 (33), 34794-34801 (2004)
   PUBMED   15184393
  REMARK    GeneRIF: CLIC-5A has a role as a chloride channel in vitro and
            binds to cortical actin cytoskeleton
REFERENCE   8  (residues 1 to 205)
  AUTHORS   Shanks RA, Larocca MC, Berryman M, Edwards JC, Urushidani T,
            Navarre J and Goldenring JR.
  TITLE     AKAP350 at the Golgi apparatus. II. Association of AKAP350 with a
            novel chloride intracellular channel (CLIC) family member
  JOURNAL   J Biol Chem 277 (43), 40973-40980 (2002)
   PUBMED   12163479
  REMARK    GeneRIF: association with Golgi apparatus AKAP350
REFERENCE   9  (residues 1 to 205)
  AUTHORS   Suzuki T, Morita R, Sugimoto Y, Sugawara T, Bai DS, Alonso ME,
            Medina MT, Bailey JN, Rasmussen A, Ramos-Peek J, Cordova S,
            Rubio-Donnadieu F, Ochoa A, Jara-Prado A, Inazawa J,
            Delgado-Escueta AV and Yamakawa K.
  TITLE     Identification and mutational analysis of candidate genes for
            juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and
            CLIC5
  JOURNAL   Epilepsy Res 50 (3), 265-275 (2002)
   PUBMED   12200217
REFERENCE   10 (residues 1 to 205)
  AUTHORS   Berryman M and Bretscher A.
  TITLE     Identification of a novel member of the chloride intracellular
            channel gene family (CLIC5) that associates with the actin
            cytoskeleton of placental microvilli
  JOURNAL   Mol Biol Cell 11 (5), 1509-1521 (2000)
   PUBMED   10793131
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA843541.1, AK075144.1,
            AL357057.20 and BC039380.1.
            
            Summary: This gene encodes a member of the chloride intracellular
            channel (CLIC) family of chloride ion channels. The encoded protein
            associates with actin-based cytoskeletal structures and may play a
            role in multiple processes including hair cell stereocilia
            formation, myoblast proliferation and glomerular podocyte and
            endothelial cell maintenance. Alternatively spliced transcript
            variants encoding multiple isoforms have been observed for this
            gene. [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (3) differs in the 5' and 3' UTRs
            and initiates translation at an alternate start codon, compared to
            variant 1. the encoded isoform (c) is shorter and has distinct N-
            and C-termini, compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK075144.1, SRR11853562.27407.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267769 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     Protein         1..205
                     /product="chloride intracellular channel protein 5 isoform
                     c"
                     /note="chloride intracellular channel protein 5"
                     /calculated_mol_wt=22699
     Region          14..>196
                     /region_name="O-ClC"
                     /note="intracellular chloride channel protein; TIGR00862"
                     /db_xref="CDD:129941"
     CDS             1..205
                     /gene="CLIC5"
                     /gene_synonym="DFNB102; DFNB103; MST130; MSTP130"
                     /coded_by="NM_001256023.2:319..936"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS59022.1"
                     /db_xref="GeneID:53405"
                     /db_xref="HGNC:HGNC:13517"
                     /db_xref="MIM:607293"
ORIGIN      
        1 mtdsatangd drdpeielfv kagidgesig ncpfsqrlfm ilwlkgvvfn vttvdlkrkp
       61 adlhnlapgt hppfltfngd vktdvnkiee fleetltpek ypklaakhre sntagidifs
      121 kfsayikntk qqnnaalerg ltkalkkldd ylntplpeei dantcgedkg srrkfldgde
      181 ltladcnllp klhvvkeqvp lkgmi
//
LOCUS       NP_001305699             198 aa            linear   PRI 30-DEC-2022
DEFINITION  39S ribosomal protein L14, mitochondrial isoform c [Homo sapiens].
ACCESSION   NP_001305699 XP_005249356
VERSION     NP_001305699.1
DBSOURCE    REFSEQ: accession NM_001318770.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 198)
  AUTHORS   Brown A, Rathore S, Kimanius D, Aibara S, Bai XC, Rorbach J, Amunts
            A and Ramakrishnan V.
  TITLE     Structures of the human mitochondrial ribosome in native states of
            assembly
  JOURNAL   Nat Struct Mol Biol 24 (10), 866-869 (2017)
   PUBMED   28892042
REFERENCE   2  (residues 1 to 198)
  AUTHORS   Greber BJ and Ban N.
  TITLE     Structure and Function of the Mitochondrial Ribosome
  JOURNAL   Annu Rev Biochem 85, 103-132 (2016)
   PUBMED   27023846
  REMARK    Review article
REFERENCE   3  (residues 1 to 198)
  AUTHORS   Brown A, Amunts A, Bai XC, Sugimoto Y, Edwards PC, Murshudov G,
            Scheres SHW and Ramakrishnan V.
  TITLE     Structure of the large ribosomal subunit from human mitochondria
  JOURNAL   Science 346 (6210), 718-722 (2014)
   PUBMED   25278503
REFERENCE   4  (residues 1 to 198)
  AUTHORS   Fung S, Nishimura T, Sasarman F and Shoubridge EA.
  TITLE     The conserved interaction of C7orf30 with MRPL14 promotes
            biogenesis of the mitochondrial large ribosomal subunit and
            mitochondrial translation
  JOURNAL   Mol Biol Cell 24 (3), 184-193 (2013)
   PUBMED   23171548
  REMARK    GeneRIF: C7orf30 promotes incorporation of MRPL14 into the
            mitochondrial large ribosomal subunit.
REFERENCE   5  (residues 1 to 198)
  AUTHORS   Hauser R, Pech M, Kijek J, Yamamoto H, Titz B, Naeve F,
            Tovchigrechko A, Yamamoto K, Szaflarski W, Takeuchi N, Stellberger
            T, Diefenbacher ME, Nierhaus KH and Uetz P.
  TITLE     RsfA (YbeB) proteins are conserved ribosomal silencing factors
  JOURNAL   PLoS Genet 8 (7), e1002815 (2012)
   PUBMED   22829778
REFERENCE   6  (residues 1 to 198)
  AUTHORS   Zhang Z and Gerstein M.
  TITLE     Identification and characterization of over 100 mitochondrial
            ribosomal protein pseudogenes in the human genome
  JOURNAL   Genomics 81 (5), 468-480 (2003)
   PUBMED   12706105
REFERENCE   7  (residues 1 to 198)
  AUTHORS   Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S,
            Watanabe K and Tanaka T.
  TITLE     The human mitochondrial ribosomal protein genes: mapping of 54
            genes to the chromosomes and implications for human disorders
  JOURNAL   Genomics 77 (1-2), 65-70 (2001)
   PUBMED   11543634
REFERENCE   8  (residues 1 to 198)
  AUTHORS   Goldschmidt-Reisin S, Kitakawa M, Herfurth E, Wittmann-Liebold B,
            Grohmann L and Graack HR.
  TITLE     Mammalian mitochondrial ribosomal proteins. N-terminal amino acid
            sequencing, characterization, and identification of corresponding
            gene sequences
  JOURNAL   J Biol Chem 273 (52), 34828-34836 (1998)
   PUBMED   9857009
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL365192.22, BG545603.1,
            BM013002.1, AA887574.1 and AL109615.42.
            On Jan 14, 2016 this sequence version replaced XP_005249356.1.
            
            Summary: This nuclear gene encodes a protein component of the 39S
            subunit of the mitochondrial ribosome. A pseudogene of this gene is
            found on chromosome 17. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (5) differs in the 5' UTR and
            initiates translation at an alternate start codon compared to
            variant 1. The encoded isoform (c) has a longer N-terminus than
            isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BG545603.1, BU681266.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     Protein         1..198
                     /product="39S ribosomal protein L14, mitochondrial isoform
                     c"
                     /note="39S ribosomal protein L14, mitochondrial; 39S
                     ribosomal protein L32, mitochondrial; mitochondrial large
                     ribosomal subunit protein uL14m"
                     /calculated_mol_wt=22013
     Region          86..194
                     /region_name="Ribosomal_L14"
                     /note="Ribosomal protein L14p/L23e; cl00328"
                     /db_xref="CDD:444840"
     CDS             1..198
                     /gene="MRPL14"
                     /gene_synonym="L14mt; L32mt; MRP-L14; MRP-L32; MRPL32;
                     RMPL32; RPML32"
                     /coded_by="NM_001318770.2:175..771"
                     /note="isoform c is encoded by transcript variant 5"
                     /db_xref="GeneID:64928"
                     /db_xref="HGNC:HGNC:14279"
                     /db_xref="MIM:611827"
ORIGIN      
        1 mqlacqeytv knkvdllhgg ycvrrktvhc ssleilyvll knkdfiedls wdpmafftgl
       61 wgpftcvsrv lshhcfsttg slsaiqkmtr vrvvdnsalg nspyhraprc ihvykkngvg
      121 kvgdqillai kgqkkkaliv ghcmpgprmt prfdsnnvvl iedngnpvgt riktpiptsl
      181 rkregeyskv laiaqnfv
//
LOCUS       NP_115725                211 aa            linear   PRI 31-DEC-2022
DEFINITION  tudor-interacting repair regulator protein isoform 1 [Homo
            sapiens].
ACCESSION   NP_115725
VERSION     NP_115725.1
DBSOURCE    REFSEQ: accession NM_032349.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 211)
  AUTHORS   Parnandi N, Rendo V, Cui G, Botuyan MV, Remisova M, Nguyen H, Drane
            P, Beroukhim R, Altmeyer M, Mer G and Chowdhury D.
  TITLE     TIRR inhibits the 53BP1-p53 complex to alter cell-fate programs
  JOURNAL   Mol Cell 81 (12), 2583-2595 (2021)
   PUBMED   33961797
  REMARK    GeneRIF: TIRR inhibits the 53BP1-p53 complex to alter cell-fate
            programs.
REFERENCE   2  (residues 1 to 211)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 211)
  AUTHORS   Avolio R, Jarvelin AI, Mohammed S, Agliarulo I, Condelli V, Zoppoli
            P, Calice G, Sarnataro D, Bechara E, Tartaglia GG, Landriscina M,
            Castello A, Esposito F and Matassa DS.
  TITLE     Protein Syndesmos is a novel RNA-binding protein that regulates
            primary cilia formation
  JOURNAL   Nucleic Acids Res 46 (22), 12067-12086 (2018)
   PUBMED   30260431
  REMARK    GeneRIF: Identification of a small subset of mRNAs responsible for
            the biogenesis of primary cilium that have been linked to
            developmental and degenerative diseases, known as ciliopathies, and
            cancer. SDOS binds and regulates the translation of several of
            these mRNAs, controlling cilia development.
REFERENCE   4  (residues 1 to 211)
  AUTHORS   Wang J, Yuan Z, Cui Y, Xie R, Yang G, Kassab MA, Wang M, Ma Y, Wu
            C, Yu X and Liu X.
  TITLE     Molecular basis for the inhibition of the methyl-lysine binding
            function of 53BP1 by TIRR
  JOURNAL   Nat Commun 9 (1), 2689 (2018)
   PUBMED   30002377
  REMARK    GeneRIF: Data indicate the molecular mechanism underlying Tudor
            interacting repair regulator (TIRR)-mediated suppression of tumor
            protein p53 binding protein 1 (53BP1)-dependent DNA damage repair.
            Erratum:[Nat Commun. 2019 Jan 8;10(1):170. PMID: 30622280]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 211)
  AUTHORS   Botuyan MV, Cui G, Drane P, Oliveira C, Detappe A, Brault ME,
            Parnandi N, Chaubey S, Thompson JR, Bragantini B, Zhao D, Chapman
            JR, Chowdhury D and Mer G.
  TITLE     Mechanism of 53BP1 activity regulation by RNA-binding TIRR and a
            designer protein
  JOURNAL   Nat Struct Mol Biol 25 (7), 591-600 (2018)
   PUBMED   29967538
  REMARK    GeneRIF: X-ray crystal structures of TIRR and a designer protein
            bound to 53BP1 now reveal a mechanism in which an intricate binding
            area centered on an essential TIRR arginine residue blocks the
            methylated-chromatin-binding surface of 53BP1. A 53BP1
            separation-of-function mutation that abolishes TIRR-mediated
            regulation in cells renders 53BP1 hyperactive in response to DSBs,
            highlighting the key inhibitory function of TIRR.
REFERENCE   6  (residues 1 to 211)
  AUTHORS   Zhang A, Peng B, Huang P, Chen J and Gong Z.
  TITLE     The p53-binding protein 1-Tudor-interacting repair regulator
            complex participates in the DNA damage response
  JOURNAL   J Biol Chem 292 (16), 6461-6467 (2017)
   PUBMED   28213517
  REMARK    GeneRIF: TIRR is a novel 53BP1-interacting protein that
            participates in the DNA damage response
REFERENCE   7  (residues 1 to 211)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   8  (residues 1 to 211)
  AUTHORS   Song MG, Li Y and Kiledjian M.
  TITLE     Multiple mRNA decapping enzymes in mammalian cells
  JOURNAL   Mol Cell 40 (3), 423-432 (2010)
   PUBMED   21070968
REFERENCE   9  (residues 1 to 211)
  AUTHORS   Taylor MJ and Peculis BA.
  TITLE     Evolutionary conservation supports ancient origin for Nudt16, a
            nuclear-localized, RNA-binding, RNA-decapping enzyme
  JOURNAL   Nucleic Acids Res 36 (18), 6021-6034 (2008)
   PUBMED   18820299
REFERENCE   10 (residues 1 to 211)
  AUTHORS   Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI and Mann
            M.
  TITLE     Nucleolar proteome dynamics
  JOURNAL   Nature 433 (7021), 77-83 (2005)
   PUBMED   15635413
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC023830.9.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC006223.2, SRR14038195.1721056.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000304301.11/
                                                ENSP00000306670.5
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..211
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..211
                     /product="tudor-interacting repair regulator protein
                     isoform 1"
                     /note="protein syndesmos; NUDT16-like protein 1; nudix
                     (nucleoside diphosphate linked moiety X)-type motif
                     16-like 1; tudor-interacting repair regulator protein"
                     /calculated_mol_wt=23207
     Site            10
                     /site_type="other"
                     /note="Required for interaction with TP53BP1.
                     /evidence=ECO:0000269|PubMed:28241136; propagated from
                     UniProtKB/Swiss-Prot (Q9BRJ7.1)"
     Region          118..205
                     /region_name="Interaction with PXN.
                     /evidence=ECO:0000250|UniProtKB:Q8VHN8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BRJ7.1)"
     CDS             1..211
                     /gene="NUDT16L1"
                     /gene_synonym="SDOS; TIRR"
                     /coded_by="NM_032349.4:166..801"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS10519.1"
                     /db_xref="GeneID:84309"
                     /db_xref="HGNC:HGNC:28154"
                     /db_xref="MIM:617338"
ORIGIN      
        1 mstaavpelk qisrveamrl gpgwshscha mlyaanpgql fgripmrfsv lmqmrfdgll
       61 gfpggfvdrr fwsledglnr vlglglgclr lteadylssh ltegphrvva hlyarqltle
      121 qlhaveisav hsrdhglevl glvrvplytq kdrvggfpnf lsnafvstak cqllfalkvl
      181 nmmpeeklve alaaatekqk kalekllpas s
//
LOCUS       NP_001387171            2097 aa            linear   PRI 01-JAN-2023
DEFINITION  MAX gene-associated protein isoform 4 [Homo sapiens].
ACCESSION   NP_001387171
VERSION     NP_001387171.1
DBSOURCE    REFSEQ: accession NM_001400242.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2097)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (residues 1 to 2097)
  AUTHORS   Llabata P, Mitsuishi Y, Choi PS, Cai D, Francis JM, Torres-Diz M,
            Udeshi ND, Golomb L, Wu Z, Zhou J, Svinkina T, Aguilera-Jimenez E,
            Liu Y, Carr SA, Sanchez-Cespedes M, Meyerson M and Zhang X.
  TITLE     Multi-Omics Analysis Identifies MGA as a Negative Regulator of the
            MYC Pathway in Lung Adenocarcinoma
  JOURNAL   Mol Cancer Res 18 (4), 574-584 (2020)
   PUBMED   31862696
  REMARK    GeneRIF: Multi-Omics Analysis Identifies MGA as a Negative
            Regulator of the MYC Pathway in Lung Adenocarcinoma.
REFERENCE   3  (residues 1 to 2097)
  AUTHORS   Zhao K, Du J, Peng Y, Li P, Wang S, Wang Y, Hou J, Kang J, Zheng W,
            Hua S and Yu XF.
  TITLE     LINE1 contributes to autoimmunity through both RIG-I- and
            MDA5-mediated RNA sensing pathways
  JOURNAL   J Autoimmun 90, 105-115 (2018)
   PUBMED   29525183
  REMARK    GeneRIF: this study shows that LINE1 contributes to autoimmunity
            through both RIG-I- and MDA5-mediated RNA sensing pathways
REFERENCE   4  (residues 1 to 2097)
  AUTHORS   Hauri S, Comoglio F, Seimiya M, Gerstung M, Glatter T, Hansen K,
            Aebersold R, Paro R, Gstaiger M and Beisel C.
  TITLE     A High-Density Map for Navigating the Human Polycomb Complexome
  JOURNAL   Cell Rep 17 (2), 583-595 (2016)
   PUBMED   27705803
REFERENCE   5  (residues 1 to 2097)
  AUTHORS   Jo YS, Kim MS, Yoo NJ and Lee SH.
  TITLE     Somatic mutation of a candidate tumour suppressor MGA gene and its
            mutational heterogeneity in colorectal cancers
  JOURNAL   Pathology 48 (5), 525-527 (2016)
   PUBMED   27306572
  REMARK    GeneRIF: we suggest that MGA loss-of-function mutations are present
            in colorectal cancers
REFERENCE   6  (residues 1 to 2097)
  AUTHORS   Wang J, Huo K, Ma L, Tang L, Li D, Huang X, Yuan Y, Li C, Wang W,
            Guan W, Chen H, Jin C, Wei J, Zhang W, Yang Y, Liu Q, Zhou Y, Zhang
            C, Wu Z, Xu W, Zhang Y, Liu T, Yu D, Zhang Y, Chen L, Zhu D, Zhong
            X, Kang L, Gan X, Yu X, Ma Q, Yan J, Zhou L, Liu Z, Zhu Y, Zhou T,
            He F and Yang X.
  TITLE     Toward an understanding of the protein interaction network of the
            human liver
  JOURNAL   Mol Syst Biol 7, 536 (2011)
   PUBMED   21988832
  REMARK    Erratum:[Mol Syst Biol. 2017 Dec 18;13(12 ):965. PMID: 29254952]
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 2097)
  AUTHORS   Bandyopadhyay S, Chiang CY, Srivastava J, Gersten M, White S, Bell
            R, Kurschner C, Martin C, Smoot M, Sahasrabudhe S, Barber DL,
            Chanda SK and Ideker T.
  TITLE     A human MAP kinase interactome
  JOURNAL   Nat Methods 7 (10), 801-805 (2010)
   PUBMED   20936779
REFERENCE   8  (residues 1 to 2097)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   9  (residues 1 to 2097)
  AUTHORS   Dou Y, Milne TA, Tackett AJ, Smith ER, Fukuda A, Wysocka J, Allis
            CD, Chait BT, Hess JL and Roeder RG.
  TITLE     Physical association and coordinate function of the H3 K4
            methyltransferase MLL1 and the H4 K16 acetyltransferase MOF
  JOURNAL   Cell 121 (6), 873-885 (2005)
   PUBMED   15960975
REFERENCE   10 (residues 1 to 2097)
  AUTHORS   Hurlin PJ, Steingrimsson E, Copeland NG, Jenkins NA and Eisenman
            RN.
  TITLE     Mga, a dual-specificity transcription factor that interacts with
            Max and contains a T-domain DNA-binding motif
  JOURNAL   EMBO J 18 (24), 7019-7028 (1999)
   PUBMED   10601024
  REMARK    Erratum:[EMBO J 2000 Jul 17;19(14):3841]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC016134.7 and AC073657.5.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2467150
                              [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2097
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     Protein         1..2097
                     /product="MAX gene-associated protein isoform 4"
                     /note="MAX dimerization protein 5; MAX gene-associated
                     protein; MGA, MAX dimerization protein"
                     /calculated_mol_wt=232825
     Region          75..260
                     /region_name="T-box_MGA-like"
                     /note="DNA-binding domain of MAX gene-associated protein
                     and related T-box proteins; cd20195"
                     /db_xref="CDD:410321"
     Site            order(102..103,136,180,183,196..197,237..240,245,248..249,
                     252..258)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410321"
     Region          259..322
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            534
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          604..653
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            607
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            645
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            851
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          881..911
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            924
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          971..990
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          1041..1082
                     /region_name="DUF4801"
                     /note="Domain of unknown function (DUF4801); pfam16059"
                     /db_xref="CDD:435106"
     Site            1208
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          1246..1332
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          1457..1521
                     /region_name="bHLHzip_MGA"
                     /note="basic Helix-Loop-Helix-zipper (bHLHzip) domain
                     found in MAX gene-associated protein (MGA) and similar
                     proteins; cd18911"
                     /db_xref="CDD:381481"
     Site            order(1457,1459..1461,1463..1465,1467..1468,1472,
                     1491..1492)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381481"
     Site            order(1471,1474..1475,1477..1478,1481..1483,1493,
                     1496..1497,1500,1502..1504,1506..1507,1509..1510,1513,
                     1516..1517,1520..1521)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381481"
     CDS             1..2097
                     /gene="MGA"
                     /gene_synonym="MAD5; MXD5"
                     /coded_by="NM_001400242.1:195..6488"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:23269"
                     /db_xref="HGNC:HGNC:14010"
                     /db_xref="MIM:616061"
ORIGIN      
        1 meekqqiila nqdggtvaga aptffvilkq pgngktdqgi lvtnqdacal assvsspvks
       61 kgkiclpadc tvggitvtld nnsmwnefyh rstemiltkq grrmfpycry witgldsnlk
      121 yilvmdispv dnhrykwngr wwepsgkaep hvlgrvfihp espstghywm hqpvsfyklk
      181 ltnntldqeg hiilhsmhry lprlhlvpae kaveviqlng pgvhtftfpq teffavtayq
      241 niqitqlkid ynpfakgfrd dglnnkpqrd gkqknssdqe gnnissssgh rvrltegqgs
      301 eiqpgdldpl srghetsgkg lektslnikr dflgfmdtds alsevpqlkq eisecliass
      361 feddsrvasp ldqngsfnvv ikeeplddyd yelgecpegv tvkqeetdee tdvysnsddd
      421 pilekqlkrh nkvdnpeadh lsskwlpssp sgvakakmfk ldtgkmpvvy lepcavtrst
      481 vkiselpdnm lstsrkdkss mlaeleylpt yiensnetaf clgkesengl rkhspdlrvv
      541 qkypllkepq wkypdisdsi sterilddsk dsvgdslsgk edlgrkrttm lkiataakvv
      601 nanqnaspnv pgkrgrprkl klckagrppk ntgkslistk ntpvspgstf pdvkpdledv
      661 dgvlfvsfes kealdihavd gtteessslq asttndsgyr arisqlekel iedlktlrhk
      721 qvihpglqev glklnsvdpt msidlkylgv qlplapatsf pfwnltgtnp aspdagfpfv
      781 srtgktndft kikgwrgkfh sasasrnegg nsesslknrs afcsdkldey lenegklmet
      841 smgfssnapt spvvyqlptk stsyvrtlds vlkkqstisp stsyslkphs vppvsrkaks
      901 qnrqatfsgr tkssyksilp ypvspkqkys hvilgdkvtk nssgiisenq annfvvptld
      961 enifpkqisl rqaqqqqqqq qgsrppglsk sqvklmdled calwegkprt yiteeradvs
     1021 lttlltaqas lktkpihtii rkrappcnnd fcrlgcvcss lalekrqpah crrpdcmfgc
     1081 tclkrkvvlv kggsktkhfq rkaahrdpvf ydtlgeeare eeegireeee qlkekkkrkk
     1141 leyticetep eqpvrhyplw vkvegevdpe pvyiptpsvi epmkplllpq pevlsptvkg
     1201 klltgikspr sytpkpnpvi reedkdpvyl yfesmmtcar vrvyerkked qrqpsssssp
     1261 spsfqqqtsc hsspenhnna kepdseqqpl kqltcdledd sdklqekswk sscnegesss
     1321 tsymhqrspg gptklieiis dcnweedrnk ilsilsqhin snmpqslknn cveyieddee
     1381 hvdietveel seeinvahlk ttaahtqsfk qpscthisad ekaaersrka ppiplklkpd
     1441 ywsdklqkea eafayyrrth tanerrrrge mrdlfeklki tlgllhsskv sksliltraf
     1501 seiqgltdqa dkligqknll trkrnilirk vsslsgktee vvlkkleyiy akqqaleaqk
     1561 rkkkmgsdef dispriskqq egssassvdl gqmfinnrrg kplilsrkkd qatentspln
     1621 tphtsanlvm tpqgqlltlk gplfsgpvva vspdllesdl kpqvagsava lpenddlfmm
     1681 privnvtsla tegglvdmgg skyphevpds kpsdhlkdtv rnednsledk grissrgnrd
     1741 grvtlgptqv flankdsgyp qivdvsnmqk aqeflpkkis gdmrgiqykw kesesrgerv
     1801 kskdssfhkl kmkdlkdssi emelrkvtsa ieeaaldsse lltnmededd tdetltslln
     1861 eiaflnqqln ddsvglaelp ssmdtefpgd arrafiskvp pgsratfqve hlgtglkelp
     1921 dvqgesdsis plllhleddd fsenekqlae pasepdvlki vidseikdsl lsnkkaidgg
     1981 kntsglpaep esvsspptlh mktglensns tdtlwrpmpk laplglkvan pssdadgqsl
     2041 kvmpclapia akvgsvghkm nltgndqegr eskvmptlap vvaklgnsga spssagk
//
LOCUS       NP_001397985             674 aa            linear   PRI 01-JAN-2023
DEFINITION  MAP/microtubule affinity-regulating kinase 3 isoform g [Homo
            sapiens].
ACCESSION   NP_001397985 XP_016876785
VERSION     NP_001397985.1
DBSOURCE    REFSEQ: accession NM_001411056.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 674)
  AUTHORS   Machino H, Kaneko S, Komatsu M, Ikawa N, Asada K, Nakato R, Shozu
            K, Dozen A, Sone K, Yoshida H, Kato T, Oda K, Osuga Y, Fujii T, von
            Keudell G, Saloura V and Hamamoto R.
  TITLE     The metabolic stress-activated checkpoint LKB1-MARK3 axis acts as a
            tumor suppressor in high-grade serous ovarian carcinoma
  JOURNAL   Commun Biol 5 (1), 39 (2022)
   PUBMED   35017636
  REMARK    GeneRIF: The metabolic stress-activated checkpoint LKB1-MARK3 axis
            acts as a tumor suppressor in high-grade serous ovarian carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 674)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   3  (residues 1 to 674)
  AUTHORS   Ansar M, Chung H, Waryah YM, Makrythanasis P, Falconnet E, Rao AR,
            Guipponi M, Narsani AK, Fingerhut R, Santoni FA, Ranza E, Waryah
            AM, Bellen HJ and Antonarakis SE.
  TITLE     Visual impairment and progressive phthisis bulbi caused by
            recessive pathogenic variant in MARK3
  JOURNAL   Hum Mol Genet 27 (15), 2703-2711 (2018)
   PUBMED   29771303
  REMARK    GeneRIF: A non-synonymous homozygous variant (NM_001128918.2:
            c.1708C > G: p.Arg570Gly) in the MARK3 leads to visual impairment
            and progressive phthisis bulbi.
REFERENCE   4  (residues 1 to 674)
  AUTHORS   Sandi MJ, Marshall CB, Balan M, Coyaud E, Zhou M, Monson DM,
            Ishiyama N, Chandrakumar AA, La Rose J, Couzens AL, Gingras AC,
            Raught B, Xu W, Ikura M, Morrison DK and Rottapel R.
  TITLE     MARK3-mediated phosphorylation of ARHGEF2 couples microtubules to
            the actin cytoskeleton to establish cell polarity
  JOURNAL   Sci Signal 10 (503) (2017)
   PUBMED   29089450
  REMARK    GeneRIF: Authors identified a regulatory switch controlled by MARK3
            that couples microtubules to the actin cytoskeleton to establish
            epithelial cell polarity through ARHGEF2.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 674)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (residues 1 to 674)
  AUTHORS   Li MG, Katsura K, Nomiyama H, Komaki K, Ninomiya-Tsuji J, Matsumoto
            K, Kobayashi T and Tamura S.
  TITLE     Regulation of the interleukin-1-induced signaling pathways by a
            novel member of the protein phosphatase 2C family (PP2Cepsilon)
  JOURNAL   J Biol Chem 278 (14), 12013-12021 (2003)
   PUBMED   12556533
REFERENCE   7  (residues 1 to 674)
  AUTHORS   Sun TQ, Lu B, Feng JJ, Reinhard C, Jan YN, Fantl WJ and Williams
            LT.
  TITLE     PAR-1 is a Dishevelled-associated kinase and a positive regulator
            of Wnt signalling
  JOURNAL   Nat Cell Biol 3 (7), 628-636 (2001)
   PUBMED   11433294
REFERENCE   8  (residues 1 to 674)
  AUTHORS   Peng CY, Graves PR, Ogg S, Thoma RS, Byrnes MJ 3rd, Wu Z,
            Stephenson MT and Piwnica-Worms H.
  TITLE     C-TAK1 protein kinase phosphorylates human Cdc25C on serine 216 and
            promotes 14-3-3 protein binding
  JOURNAL   Cell Growth Differ 9 (3), 197-208 (1998)
   PUBMED   9543386
REFERENCE   9  (residues 1 to 674)
  AUTHORS   Ono T, Kawabe T, Sonta S and Okamoto T.
  TITLE     Assignment of MARK3 alias KP78 to human chromosome band 14q32.3 by
            in situ hybridization
  JOURNAL   Cytogenet Cell Genet 79 (1-2), 101-102 (1997)
   PUBMED   9533022
REFERENCE   10 (residues 1 to 674)
  AUTHORS   Meller N, Liu YC, Collins TL, Bonnefoy-Berard N, Baier G, Isakov N
            and Altman A.
  TITLE     Direct interaction between protein kinase C theta (PKC theta) and
            14-3-3 tau in T cells: 14-3-3 overexpression results in inhibition
            of PKC theta translocation and function
  JOURNAL   Mol Cell Biol 16 (10), 5782-5791 (1996)
   PUBMED   8816492
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133367.4 and KF456011.1.
            On Aug 20, 2022 this sequence version replaced XP_016876785.1.
            
            Summary: The protein encoded by this gene is activated by
            phosphorylation and in turn is involved in the phosphorylation of
            tau proteins MAP2 and MAP4. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.267927.1,
                                           SRR14038191.4530151.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..674
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.32-q32.33"
     Protein         1..674
                     /product="MAP/microtubule affinity-regulating kinase 3
                     isoform g"
                     /EC_number="2.7.11.1"
                     /note="EMK-2; C-TAK1; ELKL motif kinase 2; protein kinase
                     STK10; ser/Thr protein kinase PAR-1; cdc25C-associated
                     protein kinase 1; MAP/microtubule affinity-regulating
                     kinase 3; serine/threonine-protein kinase p78"
                     /calculated_mol_wt=75462
     Region          18..243
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          261..303
                     /region_name="UBA_MARK3_4"
                     /note="UBA domain found in MAP/microtubule
                     affinity-regulating kinase MARK3, MARK4, and similar
                     proteins; cd14407"
                     /db_xref="CDD:270590"
     Region          575..672
                     /region_name="MARK1-3_C"
                     /note="C-terminal, kinase associated domain 1 (KA1), a
                     phospholipid binding domain, of microtubule
                     affinity-regulating kinases 1-3; cd12196"
                     /db_xref="CDD:213381"
     Site            order(577,580,650,652..653)
                     /site_type="other"
                     /note="putative phospholipid binding site [chemical
                     binding]"
                     /db_xref="CDD:213381"
     CDS             1..674
                     /gene="MARK3"
                     /gene_synonym="CTAK1; KP78; Par-1a; PAR1A; VIPB"
                     /coded_by="NM_001411056.1:616..2640"
                     /note="isoform g is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS91940.1"
                     /db_xref="GeneID:4140"
                     /db_xref="HGNC:HGNC:6897"
                     /db_xref="MIM:602678"
ORIGIN      
        1 mstrtplptv nerdtenvai kiidktqlnp tslqklfrev rimkilnhpn ivklfeviet
       61 ektlylimey asggevfdyl vahgrmkeke arskfrqivs avqychqkri vhrdlkaenl
      121 lldadmniki adfgfsneft vggkldtfcg sppyaapelf qgkkydgpev dvwslgvily
      181 tlvsgslpfd gqnlkelrer vlrgkyripf ymstdcenll krflvlnpik rgtleqimkd
      241 rwinagheed elkpfvepel disdqkridi mvgmgysqee iqeslskmky deitatylll
      301 grksseldas dsssssnlsl akvrpssdln nstgqsphhk vqrsvsssqk qrrysdhagp
      361 aipsvvaypk rsqtstadsd lkedgissrk ssgsavggkg iapaspmlgn asnpnkadip
      421 erkksstvps sntasggmtr rntyvcsert tadrhsviqn gkenstipdq rtpvasthsi
      481 ssaatpdrir fprgtasrst fhgqprerrt atyngppasp slsheatpls qtrsrgstnl
      541 fskltskltr rnmsfrfiks rnvsaeqkde nkeakprslr ftwsmkttss mdpgdmmrei
      601 rkvldanncd yeqrerfllf cvhgdghaen lvqwemevck lprlslngvr fkrisgtsia
      661 fkniaskian elkl
//
LOCUS       NP_001398972             825 aa            linear   PRI 01-JAN-2023
DEFINITION  breast cancer anti-estrogen resistance protein 3 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001398972
VERSION     NP_001398972.1
DBSOURCE    REFSEQ: accession NM_001412043.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 825)
  AUTHORS   Pavanelli AC, Mangone FR, Yoganathan P, Bessa SA, Nonogaki S, de
            Toledo Osorio CAB, de Andrade VP, Soares IC, de Mello ES, Mulligan
            LM and Nagai MA.
  TITLE     Comprehensive immunohistochemical analysis of RET, BCAR1, and BCAR3
            expression in patients with Luminal A and B breast cancer subtypes
  JOURNAL   Breast Cancer Res Treat 192 (1), 43-52 (2022)
   PUBMED   35031902
  REMARK    GeneRIF: Comprehensive immunohistochemical analysis of RET, BCAR1,
            and BCAR3 expression in patients with Luminal A and B breast cancer
            subtypes.
REFERENCE   2  (residues 1 to 825)
  AUTHORS   Steenkiste EM, Berndt JD, Pilling C, Simpkins C and Cooper JA.
  TITLE     A Cas-BCAR3 co-regulatory circuit controls lamellipodia dynamics
  JOURNAL   Elife 10, e67078 (2021)
   PUBMED   34169835
  REMARK    GeneRIF: A Cas-BCAR3 co-regulatory circuit controls lamellipodia
            dynamics.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 825)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 825)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 825)
  AUTHORS   Pan Z, Zhu Q, You W, Shen C, Hu W and Chen X.
  TITLE     Silencing of Mig-7 expression inhibits in-vitro invasiveness and
            vasculogenic mimicry of human glioma U87 Cells
  JOURNAL   Neuroreport 30 (17), 1135-1142 (2019)
   PUBMED   31688418
  REMARK    GeneRIF: this study indicates that the expression of Mig-7 in
            gliomas is positively correlated with vasculogenic mimicry
            formation and is related to the glioma pathological grade
REFERENCE   6  (residues 1 to 825)
  AUTHORS   Cai D, Felekkis KN, Near RI, O'Neill GM, van Seventer JM, Golemis
            EA and Lerner A.
  TITLE     The GDP exchange factor AND-34 is expressed in B cells, associates
            with HEF1, and activates Cdc42
  JOURNAL   J Immunol 170 (2), 969-978 (2003)
   PUBMED   12517963
REFERENCE   7  (residues 1 to 825)
  AUTHORS   Lu Y, Brush J and Stewart TA.
  TITLE     NSP1 defines a novel family of adaptor proteins linking integrin
            and tyrosine kinase receptors to the c-Jun N-terminal
            kinase/stress-activated protein kinase signaling pathway
  JOURNAL   J Biol Chem 274 (15), 10047-10052 (1999)
   PUBMED   10187783
REFERENCE   8  (residues 1 to 825)
  AUTHORS   van Agthoven T, van Agthoven TL, Dekker A, van der Spek PJ, Vreede
            L and Dorssers LC.
  TITLE     Identification of BCAR3 by a random search for genes involved in
            antiestrogen resistance of human breast cancer cells
  JOURNAL   EMBO J 17 (10), 2799-2808 (1998)
   PUBMED   9582273
REFERENCE   9  (residues 1 to 825)
  AUTHORS   Johnston SR.
  TITLE     Acquired tamoxifen resistance in human breast cancer--potential
            mechanisms and clinical implications
  JOURNAL   Anticancer Drugs 8 (10), 911-930 (1997)
   PUBMED   9436634
  REMARK    Review article
REFERENCE   10 (residues 1 to 825)
  AUTHORS   Dorssers LC and van Agthoven T.
  TITLE     Genetic mechanisms of estrogen-independence in breast cancer
  JOURNAL   Pathol Res Pract 192 (7), 743-751 (1996)
   PUBMED   8880875
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049796.28, AL359820.12 and
            AL109613.11.
            
            Summary: Breast tumors are initially dependent on estrogens for
            growth and progression and can be inhibited by anti-estrogens such
            as tamoxifen. However, breast cancers progress to become
            anti-estrogen resistant. Breast cancer anti-estrogen resistance
            gene 3 was identified in the search for genes involved in the
            development of estrogen resistance. The gene encodes a component of
            intracellular signal transduction that causes estrogen-independent
            proliferation in human breast cancer cells. The protein contains a
            putative src homology 2 (SH2) domain, a hall mark of cellular
            tyrosine kinase signaling molecules, and is partly homologous to
            the cell division cycle protein CDC48. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, May 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.2788135.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..825
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.1"
     Protein         1..825
                     /product="breast cancer anti-estrogen resistance protein 3
                     isoform 1"
                     /note="breast cancer anti-estrogen resistance protein 3;
                     dJ1033H22.2 (breast cancer anti-estrogen resistance 3);
                     novel SH2-containing protein 2; SH2 domain-containing
                     protein 3B; breast cancer antiestrogen resistance 3
                     protein; epididymis secretory sperm binding protein;
                     BCAR3, NSP family adaptor protein; mig-7; migration
                     inducting gene-7"
                     /calculated_mol_wt=92435
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O75815.1)"
     Site            32
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O75815.1)"
     Region          40..106
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75815.1)"
     Site            78
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75815.1)"
     Site            83
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O75815.1)"
     Region          147..282
                     /region_name="SH2_BCAR3"
                     /note="Src homology 2 (SH2) domain in the Breast Cancer
                     Anti-estrogen Resistance protein 3; cd10337"
                     /db_xref="CDD:198200"
     Site            order(161,177,198,200)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198200"
     Site            182
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243; propagated from
                     UniProtKB/Swiss-Prot (O75815.1)"
     Site            order(199,234)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198200"
     Site            290
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O75815.1)"
     Site            334
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (O75815.1)"
     Site            358
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O75815.1)"
     Site            363
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O75815.1)"
     Site            375
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O75815.1)"
     Site            442
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (O75815.1)"
     Site            471
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QZK2; propagated from
                     UniProtKB/Swiss-Prot (O75815.1)"
     Region          544..819
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases; smart00147"
                     /db_xref="CDD:214539"
     Site            order(579..581,595..596,598..600,602..603,606..607,610,
                     645,648..649,651..653,655..658,660..661,678,683..685,688,
                     709..711,714..716,718..720,722..725,739,743,784,787..788)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     Region          744..748
                     /region_name="Mediates the interaction with BCAR1/p130CAS.
                     /evidence=ECO:0000305|PubMed:22081014"
                     /note="propagated from UniProtKB/Swiss-Prot (O75815.1)"
     Site            748
                     /site_type="other"
                     /note="Required for interaction with NEDD9.
                     /evidence=ECO:0000250|UniProtKB:Q9QZK2; propagated from
                     UniProtKB/Swiss-Prot (O75815.1)"
     CDS             1..825
                     /gene="BCAR3"
                     /gene_synonym="AND-34; MIG7; NSP2; SH2D3B"
                     /coded_by="NM_001412043.1:970..3447"
                     /note="isoform 1 is encoded by transcript variant 7"
                     /db_xref="GeneID:8412"
                     /db_xref="HGNC:HGNC:973"
                     /db_xref="MIM:604704"
ORIGIN      
        1 maagkfaslp rnmpvnhqfp lassmdllss rsplaehrpd ayqdvsihgt lprkkkgppp
       61 irscddfshm gtlphskspr qnspvtqdgi qespwqdrhg etftfrdphl ldptveyvkf
      121 skerhimdrt peklkkelee elllssedlr shawyhgrip rqvsenlvqr dgdflvrdsl
      181 sspgnfvltc qwknlaqhfk inrtvlrlse aysrvqyqfe mesfdsipgl vrcyvgnrrp
      241 isqqsgaiif qpinrtvplr cleehygtsp gqaregsltk grpdvakrls ltmggvqare
      301 qnlprgnllr nkeksgsqpa cldhmqdrra lslkahqses ylpigcklpp qssgvdtspc
      361 pnspvfrtgs epalspavvr rvssdarage alrgsdsqlc pkpppkpckv pflkvpssps
      421 awlnseanyc elnpafatgc grgaklpsca qgshtellta kqneapgprn sgvnylildd
      481 ddrerpwepa aaqmekgqwd kgefvtplle tvssfrpnef eskflppenk pletamlkra
      541 kelftnndpk viaqhvlsmd crvarilgvs eemrrnmgvs sglelitlph ghqlrldiie
      601 rhntmaigia vdilgctgtl edraatlski iqvavelkds mgdlysfsal mkalempqit
      661 rlektwtalr hqytqtaily ekqlkpfskl lhegrestcv ppnnvsvpll mplvtlmerq
      721 avtfegtdmw ekndqsceim lnhlatarfm aeaadsyrmn aerilagfqp deemneickt
      781 efqmrllwgs kgaqvnqter yekfnqilta lsrklepppv kqael
//
LOCUS       NP_001290203            1155 aa            linear   PRI 22-JAN-2023
DEFINITION  ATP-citrate synthase isoform 3 [Homo sapiens].
ACCESSION   NP_001290203 XP_005257450
VERSION     NP_001290203.1
DBSOURCE    REFSEQ: accession NM_001303274.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1155)
  AUTHORS   He H, Wang J, Mou X, Liu X, Li Q, Zhong M, Luo B, Yu Z, Zhang J, Xu
            T, Dou C, Wu D, Qing W, Wu L, Zhou K, Fan Z, Wang T, Hu T, Zhang X,
            Zhou J and Miao YL.
  TITLE     Selective autophagic degradation of ACLY (ATP citrate lyase)
            maintains citrate homeostasis and promotes oocyte maturation
  JOURNAL   Autophagy 19 (1), 163-179 (2023)
   PUBMED   35404187
  REMARK    GeneRIF: Selective autophagic degradation of ACLY (ATP citrate
            lyase) maintains citrate homeostasis and promotes oocyte
            maturation.
REFERENCE   2  (residues 1 to 1155)
  AUTHORS   Zhou F, Ai W, Zhang Y, Hu Q, Gan M, Wang JB and Han T.
  TITLE     ARHGEF3 regulates the stability of ACLY to promote the
            proliferation of lung cancer
  JOURNAL   Cell Death Dis 13 (10), 870 (2022)
   PUBMED   36241648
  REMARK    GeneRIF: ARHGEF3 regulates the stability of ACLY to promote the
            proliferation of lung cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1155)
  AUTHORS   Yuen TT, Chan JF, Yan B, Shum CC, Liu Y, Shuai H, Hou Y, Huang X,
            Hu B, Chai Y, Yoon C, Zhu T, Liu H, Shi J, Zhang J, Cai JP, Zhang
            AJ, Zhou J, Yin F, Yuan S, Zhang BZ and Chu H.
  TITLE     Targeting ACLY efficiently inhibits SARS-CoV-2 replication
  JOURNAL   Int J Biol Sci 18 (12), 4714-4730 (2022)
   PUBMED   35874959
  REMARK    GeneRIF: Targeting ACLY efficiently inhibits SARS-CoV-2
            replication.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1155)
  AUTHORS   Chen X, Song QL, Li ZH, Ji R, Wang JY, Ge C, Xiao ZN, Guo DY and
            Yang J.
  TITLE     Deletion of ACLY Disrupts Histone Acetylation and IL-10 Secretion
            in Trophoblasts, Which Inhibits M2 Polarization of Macrophages: A
            Possible Role in Recurrent Spontaneous Abortion
  JOURNAL   Oxid Med Cell Longev 2022, 5216786 (2022)
   PUBMED   35602106
  REMARK    GeneRIF: Deletion of ACLY Disrupts Histone Acetylation and IL-10
            Secretion in Trophoblasts, Which Inhibits M2 Polarization of
            Macrophages: A Possible Role in Recurrent Spontaneous Abortion.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1155)
  AUTHORS   Santarsiero A, Convertini P, Todisco S, Pierri CL, De Grassi A,
            Williams NC, Iacobazzi D, De Stefano G, O'Neill LAJ and Infantino
            V.
  TITLE     ACLY Nuclear Translocation in Human Macrophages Drives
            Proinflammatory Gene Expression by NF-kappaB Acetylation
  JOURNAL   Cells 10 (11), 2962 (2021)
   PUBMED   34831186
  REMARK    GeneRIF: ACLY Nuclear Translocation in Human Macrophages Drives
            Proinflammatory Gene Expression by NF-kappaB Acetylation.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1155)
  AUTHORS   Elshourbagy NA, Near JC, Kmetz PJ, Wells TN, Groot PH, Saxty BA,
            Hughes SA, Franklin M and Gloger IS.
  TITLE     Cloning and expression of a human ATP-citrate lyase cDNA
  JOURNAL   Eur J Biochem 204 (2), 491-499 (1992)
   PUBMED   1371749
REFERENCE   7  (residues 1 to 1155)
  AUTHORS   Ramakrishna S, D'Angelo G and Benjamin WB.
  TITLE     Sequence of sites on ATP-citrate lyase and phosphatase inhibitor 2
            phosphorylated by multifunctional protein kinase (a glycogen
            synthase kinase 3 like kinase)
  JOURNAL   Biochemistry 29 (33), 7617-7624 (1990)
   PUBMED   2176822
REFERENCE   8  (residues 1 to 1155)
  AUTHORS   Stralfors,P.
  TITLE     Isoproterenol and insulin control the cellular localization of ATP
            citrate-lyase through its phosphorylation in adipocytes
  JOURNAL   J Biol Chem 262 (24), 11486-11489 (1987)
   PUBMED   3305493
REFERENCE   9  (residues 1 to 1155)
  AUTHORS   Suzuki,M. and Okuda,H.
  TITLE     ATP citrate lyase in human adipose tissue
  JOURNAL   J Nutr Sci Vitaminol (Tokyo) 27 (6), 595-598 (1981)
   PUBMED   6801225
REFERENCE   10 (residues 1 to 1155)
  AUTHORS   Szutowicz,A. and Lysiak,W.
  TITLE     Regional and subcellular distribution of ATP-citrate lyase and
            other enzymes of acetyl-CoA metabolism in rat brain
  JOURNAL   J Neurochem 35 (4), 775-785 (1980)
   PUBMED   6109001
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB072009.1, AB210035.1 and
            AK304802.1.
            On Dec 25, 2014 this sequence version replaced XP_005257450.1.
            
            Summary: ATP citrate lyase is the primary enzyme responsible for
            the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme
            is a tetramer (relative molecular weight approximately 440,000) of
            apparently identical subunits. It catalyzes the formation of
            acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant
            hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA,
            serves several important biosynthetic pathways, including
            lipogenesis and cholesterogenesis. In nervous tissue, ATP
            citrate-lyase may be involved in the biosynthesis of acetylcholine.
            Multiple transcript variants encoding distinct isoforms have been
            identified for this gene. [provided by RefSeq, Dec 2014].
            
            Transcript Variant: This variant (3) encodes the longest isoform
            (3).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB210035.1, SRR1803612.218602.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1155
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     Protein         1..1155
                     /product="ATP-citrate synthase isoform 3"
                     /EC_number="2.3.3.8"
                     /note="ATP-citrate synthase; citrate cleavage enzyme;
                     ATP-citrate (pro-S-)-lyase"
                     /calculated_mol_wt=126088
     Region          55..473
                     /region_name="PLN02235"
                     /note="ATP citrate (pro-S)-lyase"
                     /db_xref="CDD:177879"
     Region          545..1148
                     /region_name="PLN02522"
                     /note="ATP citrate (pro-S)-lyase"
                     /db_xref="CDD:178137"
     CDS             1..1155
                     /gene="ACLY"
                     /gene_synonym="ACL; ATPCL; CLATP"
                     /coded_by="NM_001303274.1:9..3476"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:47"
                     /db_xref="HGNC:HGNC:115"
                     /db_xref="MIM:108728"
ORIGIN      
        1 mgagkspagp gqkpdpgklp aagvlrilrg ssglwkkrra rtsaetgrag lsaamsakai
       61 seqtgkelly kficttsaiq nrfkyarvtp dtdwarllqd hpwllsqnlv vkpdqlikrr
      121 gklglvgvnl tldgvkswlk prlgqeatvg katgflknfl iepfvphsqa eefyvciyat
      181 regdyvlfhh eggvdvgdvd akaqkllvgv deklnpedik khllvhaped kkeilasfis
      241 glfnfyedly ftyleinplv vtkdgvyvld laakvdatad yickvkwgdi efpppfgrea
      301 ypeeayiadl daksgaslkl tllnpkgriw tmvagggasv vysdticdlg gvnelanyge
      361 ysgapseqqt ydyaktilsl mtrekhpdgk iliiggsian ftnvaatfkg ivrairdyqg
      421 plkehevtif vrrggpnyqe glrvmgevgk ttgipihvfg tethmtaivg malghrpipn
      481 qpptaahtan fllnasgsts tpapsrtasf sesradevap akkakpampq dsvpsprslq
      541 gksttlfsrh tkaivwgmqt ravqgmldfd yvcsrdepsv aamvypftgd hkqkfywghk
      601 eilipvfknm adamrkhpev dvlinfaslr saydstmetm nyaqirtiai iaegipealt
      661 rklikkadqk gvtiigpatv ggikpgcfki gntggmldni lasklyrpgs vayvsrsggm
      721 snelnniisr ttdgvyegva iggdrypgst fmdhvlryqd tpgvkmivvl geiggteeyk
      781 icrgikegrl tkpivcwcig tcatmfssev qfghagacan qasetavakn qalkeagvfv
      841 prsfdelgei iqsvyedlva ngvivpaqev ppptvpmdys warelglirk pasfmtsicd
      901 ergqeliyag mpitevfkee mgiggvlgll wfqkrlpkys cqfiemclmv tadhgpavsg
      961 ahntiicara gkdlvsslts glltigdrfg galdaaakmf skafdsgiip mefvnkmkke
     1021 gklimgighr vksinnpdmr vqilkdyvrq hfpatplldy alevekitts kkpnlilnvd
     1081 gligvafvdm lrncgsftre eadeyidiga lngifvlgrs mgfighyldq krlkqglyrh
     1141 pwddisyvlp ehmsm
//
LOCUS       NP_001362239            2506 aa            linear   PRI 23-JAN-2023
DEFINITION  spectrin alpha chain, non-erythrocytic 1 isoform 6 [Homo sapiens].
ACCESSION   NP_001362239
VERSION     NP_001362239.1
DBSOURCE    REFSEQ: accession NM_001375310.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2506)
  AUTHORS   Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V,
            Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri
            M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon
            M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I,
            Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M,
            Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol
            B, Bacrot S, Buissonniere R, Magry V, Gowda VK, Srinivasan VM,
            Melegh B, Szabo A, Sumegi K, Cossee M, Ziff M, Butterfield R, Hunt
            D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J
            and Houlden H.
  CONSRTM   Genomics England Research Consortium
  TITLE     Expanding SPTAN1 monoallelic variant associated disorders: From
            epileptic encephalopathy to pure spastic paraplegia and ataxia
  JOURNAL   Genet Med 25 (1), 76-89 (2023)
   PUBMED   36331550
  REMARK    GeneRIF: Expanding SPTAN1 monoallelic variant associated disorders:
            From epileptic encephalopathy to pure spastic paraplegia and
            ataxia.
REFERENCE   2  (residues 1 to 2506)
  AUTHORS   Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M,
            Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noel L,
            Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog
            R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW,
            Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K,
            Zanni G, Santorelli FM, Timmerman V, Haack TB, Zuchner S, Schule R,
            Stevanin G, Synofzik M, Basak AN and Baets J.
  CONSRTM   PREPARE Consortium
  TITLE     De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic
            Paraplegia and Cerebellar Ataxia
  JOURNAL   Mov Disord 37 (6), 1175-1186 (2022)
   PUBMED   35150594
  REMARK    GeneRIF: De Novo and Dominantly Inherited SPTAN1 Mutations Cause
            Spastic Paraplegia and Cerebellar Ataxia.
REFERENCE   3  (residues 1 to 2506)
  AUTHORS   Sreeja JS, Jyothy A and Sengupta S.
  TITLE     alpha-Fodrin in Cytoskeletal Organization and the Activity of
            Certain Key Microtubule Kinesins
  JOURNAL   Genes (Basel) 12 (5), 750 (2021)
   PUBMED   34067543
  REMARK    GeneRIF: alpha-Fodrin in Cytoskeletal Organization and the Activity
            of Certain Key Microtubule Kinesins.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 2506)
  AUTHORS   Terrone G, Pinelli M, Bernardo P, Parrini E, Imperati F,
            Brunetti-Pierri N and Del Giudice E.
  TITLE     Intrafamilial variability in SPTAN1-related disorder: From benign
            convulsions with mild gastroenteritis to developmental
            encephalopathy
  JOURNAL   Eur J Paediatr Neurol 28, 237-239 (2020)
   PUBMED   32811770
  REMARK    GeneRIF: Intrafamilial variability in SPTAN1-related disorder: From
            benign convulsions with mild gastroenteritis to developmental
            encephalopathy.
REFERENCE   5  (residues 1 to 2506)
  AUTHORS   Cianci CD, Zhang Z, Pradhan D and Morrow JS.
  TITLE     Brain and muscle express a unique alternative transcript of alphaII
            spectrin
  JOURNAL   Biochemistry 38 (48), 15721-15730 (1999)
   PUBMED   10625438
REFERENCE   6  (residues 1 to 2506)
  AUTHORS   Bennett AF, Hayes NV and Baines AJ.
  TITLE     Site specificity in the interactions of synapsin 1 with tubulin
  JOURNAL   Biochem J 276 (Pt 3) (Pt 3), 793-799 (1991)
   PUBMED   1905928
REFERENCE   7  (residues 1 to 2506)
  AUTHORS   Frappier T, Stetzkowski-Marden F and Pradel LA.
  TITLE     Interaction domains of neurofilament light chain and brain spectrin
  JOURNAL   Biochem J 275 (Pt 2) (Pt 2), 521-527 (1991)
   PUBMED   1902666
REFERENCE   8  (residues 1 to 2506)
  AUTHORS   Davis LH and Bennett V.
  TITLE     Mapping the binding sites of human erythrocyte ankyrin for the
            anion exchanger and spectrin
  JOURNAL   J Biol Chem 265 (18), 10589-10596 (1990)
   PUBMED   2141335
REFERENCE   9  (residues 1 to 2506)
  AUTHORS   Leto TL, Fortugno-Erikson D, Barton D, Yang-Feng TL, Francke U,
            Harris AS, Morrow JS, Marchesi VT and Benz EJ Jr.
  TITLE     Comparison of nonerythroid alpha-spectrin genes reveals strict
            homology among diverse species
  JOURNAL   Mol Cell Biol 8 (1), 1-9 (1988)
   PUBMED   3336352
REFERENCE   10 (residues 1 to 2506)
  AUTHORS   McMahon,A.P., Giebelhaus,D.H., Champion,J.E., Bailes,J.A.,
            Lacey,S., Carritt,B., Henchman,S.K. and Moon,R.T.
  TITLE     cDNA cloning, sequencing and chromosome mapping of a non-erythroid
            spectrin, human alpha-fodrin
  JOURNAL   Differentiation 34 (1), 68-78 (1987)
   PUBMED   3038643
  REMARK    Erratum:[Differentiation 1987;34(3):241]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356481.16.
            
            Summary: Spectrins are a family of filamentous cytoskeletal
            proteins that function as essential scaffold proteins that
            stabilize the plasma membrane and organize intracellular
            organelles. Spectrins are composed of alpha and beta dimers that
            associate to form tetramers linked in a head-to-head arrangement.
            This gene encodes an alpha spectrin that is specifically expressed
            in nonerythrocytic cells. The encoded protein has been implicated
            in other cellular functions including DNA repair and cell cycle
            regulation. Mutations in this gene are the cause of early infantile
            epileptic encephalopathy-5. Alternate splicing results in multiple
            transcript variants.[provided by RefSeq, Sep 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.15450.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2506
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     Protein         1..2506
                     /product="spectrin alpha chain, non-erythrocytic 1 isoform
                     6"
                     /note="alpha-II spectrin; fodrin alpha chain; spectrin,
                     non-erythroid alpha chain; alpha-fodrin; spectrin,
                     non-erythroid alpha subunit; spectrin alpha chain,
                     non-erythrocytic 1; epididymis secretory sperm binding
                     protein"
                     /calculated_mol_wt=288144
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            43..48
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          44..147
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Region          45..146
                     /region_name="Spectrin 1. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Region          150..361
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          150..251
                     /region_name="Spectrin 2. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Site            254..259
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          256..358
                     /region_name="Spectrin 3. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Region          361..465
                     /region_name="Spectrin 4. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Region          362..572
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            466..471
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          468..678
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          468..570
                     /region_name="Spectrin 5. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Site            572..577
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          574..676
                     /region_name="Spectrin 6. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Site            587
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P16546; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            637
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Region          679..890
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          679..781
                     /region_name="Spectrin 7. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Site            783..788
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          785..888
                     /region_name="Spectrin 8. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Site            803
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P16546; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Region          890..>971
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Region          891..969
                     /region_name="Spectrin 9. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Site            924
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P16086; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Region          971..1023
                     /region_name="SH3_Alpha_Spectrin"
                     /note="Src homology 3 domain of Alpha Spectrin; cd11808"
                     /db_xref="CDD:212742"
     Site            order(976,978,981,1003..1004,1017,1019..1020)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212742"
     Site            982
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            999
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1029
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P16546; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1031
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1041
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Region          1092..1339
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          1096..1166
                     /region_name="Spectrin 10. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1176..1177
                     /site_type="cleavage"
                     /note="Cleavage, by mu-calpain; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1176
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1190
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P16546; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1207
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1217
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1232..1237
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1233..1336
                     /region_name="Spectrin 11. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Region          1234..1445
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1291
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P16546; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1306
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1323
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1338..1343
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Site            1338
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Region          1339..1442
                     /region_name="Spectrin 12. /evidence=ECO:0000255,
                     ECO:0000305|Ref.31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Region          1446..1663
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          1446..1549
                     /region_name="Spectrin 13. /evidence=ECO:0000255,
                     ECO:0000305|Ref.31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1519
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1550..1555
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Site            1550
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1557
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1578
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1620
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1652
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Region          1663..1767
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Region          1664..1767
                     /region_name="Spectrin 15. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Region          1769..1873
                     /region_name="Spectrin 16. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Region          1770..1979
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1874..1879
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1876..2087
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          1876..1979
                     /region_name="Spectrin 17. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Site            1980..1985
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1983..2086
                     /region_name="Spectrin 18. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Site            2025
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Site            2057
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     Region          2097..2193
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Site            2230..2235
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          2239..2344
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Region          2240..2344
                     /region_name="Spectrin 20. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13813.3)"
     Region          2361..2429
                     /region_name="EFh"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     cd00051"
                     /db_xref="CDD:238008"
     Site            order(2370,2372,2374,2381,2413,2415,2417,2424)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238008"
     Region          2436..2504
                     /region_name="EFhand_Ca_insen"
                     /note="Ca2+ insensitive EF hand; pfam08726"
                     /db_xref="CDD:430177"
     Site            2455
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q13813.3)"
     CDS             1..2506
                     /gene="SPTAN1"
                     /gene_synonym="DEE5; EIEE5; NEAS; SPTA2"
                     /coded_by="NM_001375310.1:114..7634"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS94501.1"
                     /db_xref="GeneID:6709"
                     /db_xref="HGNC:HGNC:11273"
                     /db_xref="MIM:182810"
ORIGIN      
        1 mdpsgvkvle taediqerrq qvldryhrfk elstlrrqkl edsyrfqffq rdaeelekwi
       61 qeklqiasde nykdptnlqg klqkhqafea evqansgaiv kldetgnlmi seghfaseti
      121 rtrlmelhrq welllekmre kgikllqaqk lvqylreced vmdwindkea ivtseelgqd
      181 lehvevlqkk feefqtdmaa heervnevnq faakliqeqh peeeliktkq devnaawqrl
      241 kglalqrqgk lfgaaevqrf nrdvdetisw ikekeqlmas ddfgrdlasv qallrkhegl
      301 erdlaaledk vkalcaeadr lqqshplsat qiqvkreeli tnweqirtla aerharlnds
      361 yrlqrfladf rdltswvtem kalinadela sdvagaeall drhqehkgei dahedsfksa
      421 desgqallaa ghyasdevre kltvlseera allelwelrr qqyeqcmdlq lfyrdteqvd
      481 nwmskqeafl lnedlgdsld sveallkkhe dfekslsaqe ekitaldefa tkliqnnhya
      541 medvatrrda llsrrnalhe ramrrraqla dsfhlqqffr dsdelkswvn ekmktatdea
      601 ykdpsnlqgk vqkhqafeae lsanqsrida lekagqklid vnhyakdeva armnevislw
      661 kklleatelk giklreanqq qqfnrnvedi elwlyevegh lasddygkdl tnvqnlqkkh
      721 alleadvaah qdridgitiq arqfqdaghf daenikkkqe alvaryealk epmvarkqkl
      781 adslrlqqlf rdvedeetwi rekepiaast nrgkdligvq nllkkhqalq aeiaghepri
      841 kavtqkgnam veeghfaaed vkaklhelnq kwealkakas qrrqdledsl qaqqyfadan
      901 eaeswmreke pivgstdygk dedsaeallk khealmsdls aygssiqalr eqaqscrqqv
      961 aptddetgke lvlalydyqe ksprevtmkk gdiltllnst nkdwwkvevn drqgfvpaay
     1021 vkkldpaqsa srenlleeqg sialrqeqid nqtritkeag svslrmkqve elyhsllelg
     1081 ekrkgmleks ckkfmlfrea nelqqwinek eaaltseevg adleqvevlq kkfddfqkdl
     1141 kanesrlkdi nkvaedlese glmaeevqav qqqevygmmp rdetdsktas pwksarlmvh
     1201 tvatfnsike lnerwrslqq laeersqllg sahevqrfhr dadetkewie eknqalntdn
     1261 yghdlasvqa lqrkhegfer dlaalgdkvn slgetaerli qshpesaedl qekctelnqa
     1321 wsslgkradq rkaklgdshd lqrflsdfrd lmswingirg lvssdelakd vtgaealler
     1381 hqehrteida ragtfqafeq fgqqllahgh yaspeikqkl dildqeradl ekawvqrrmm
     1441 ldqclelqlf hrdceqaenw maareaflnt edkgdsldsv ealikkhedf dkainvqeek
     1501 iaalqafadq liaaghyakg dissrrnevl drwrrlkaqm iekrsklges qtlqqfsrdv
     1561 deieawisek lqtasdesyk dptniqlskl lskhqkhqaf eaelhanadr irgvidmgns
     1621 liergacags edavkarlaa ladqwqflvq ksaeksqklk eankqqnfnt gikdfdfwls
     1681 eveallased ygkdlasvnn llkkhqllea disahedrlk dlnsqadslm tssafdtsqv
     1741 kdkrdtingr fqkiksmaas rraklneshr lhqffrdmdd eeswikekkl lvgsedygrd
     1801 ltgvqnlrkk hkrleaelaa hepaiqgvld tgkklsddnt igkeeiqqrl aqfvehwkel
     1861 kqlaaargqr leesleyqqf vanveeeeaw inekmtlvas edygdtlaai qgllkkheaf
     1921 etdftvhkdr vndvctngqd likknnhhee nisskmkgln gkvsdlekaa aqrkaklden
     1981 saflqfnwka dvveswigek enslktddyg rdlssvqtll tkqetfdagl qafqqegian
     2041 italkdqlla akhvqskaie arhaslmkrw sqllansaar kkklleaqsh frkvedlflt
     2101 fakkasafns wfenaeedlt dpvrcnslee ikalreahda frsslssaqa dfnqlaeldr
     2161 qiksfrvasn pytwftmeal eetwrnlqki ikgvamlprl vfnswpqavl lprppkvlgl
     2221 qerelelqke qrrqeendkl rqefaqhana fhqwiqetrt ylldgscmve esgtlesqle
     2281 atkrkhqeir amrsqlkkie dlgaameeal ildnkytehs tvglaqqwdq ldqlgmrmqh
     2341 nleqqiqarn ttgvteealk efsmmfkhfd kdksgrlnhq efksclrslg ydlpmveege
     2401 pdpefeaild tvdpnrdghv slqeymafmi sretenvkss eeiesafral ssegkpyvtk
     2461 eelyqnltre qadycvshmk pyvdgkgrel ptafdyveft rslfvn
//
LOCUS       NP_001264996             908 aa            linear   PRI 29-JAN-2023
DEFINITION  metabotropic glutamate receptor 1 isoform d precursor [Homo
            sapiens].
ACCESSION   NP_001264996
VERSION     NP_001264996.1
DBSOURCE    REFSEQ: accession NM_001278067.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 908)
  AUTHORS   Protasova MS, Andreeva TV, Klyushnikov SA, Illarioshkin SN and
            Rogaev EI.
  TITLE     Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with
            No Obvious Intellectual Disability
  JOURNAL   Int J Mol Sci 24 (2), 1551 (2023)
   PUBMED   36675067
  REMARK    GeneRIF: Genetic Variant in GRM1 Underlies Congenital Cerebellar
            Ataxia with No Obvious Intellectual Disability.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 908)
  AUTHORS   Yousaf H, Fatima A, Ali Z, Baig SM, Toft M and Iqbal Z.
  TITLE     A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive
            Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family
  JOURNAL   Genes (Basel) 13 (9), 1667 (2022)
   PUBMED   36140834
  REMARK    GeneRIF: A Novel Nonsense Variant in GRM1 Causes Autosomal
            Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani
            Family.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 908)
  AUTHORS   Wu QW and Kapfhammer JP.
  TITLE     The Emerging Key Role of the mGluR1-PKCgamma Signaling Pathway in
            the Pathogenesis of Spinocerebellar Ataxias: A Neurodevelopmental
            Viewpoint
  JOURNAL   Int J Mol Sci 23 (16), 9169 (2022)
   PUBMED   36012439
  REMARK    GeneRIF: The Emerging Key Role of the mGluR1-PKCgamma Signaling
            Pathway in the Pathogenesis of Spinocerebellar Ataxias: A
            Neurodevelopmental Viewpoint.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 908)
  AUTHORS   Ishibashi K, Miura Y, Wagatsuma K, Kameyama M and Ishii K.
  TITLE     Brain 11 C-ITMM PET to longitudinally assess type 1 metabotropic
            glutamate receptor availability in Alzheimer's disease
  JOURNAL   J Neuroimaging 31 (5), 864-868 (2021)
   PUBMED   34143915
  REMARK    GeneRIF: Brain (11) C-ITMM PET to longitudinally assess type 1
            metabotropic glutamate receptor availability in Alzheimer's
            disease.
REFERENCE   5  (residues 1 to 908)
  AUTHORS   Hermans E and Challiss RA.
  TITLE     Structural, signalling and regulatory properties of the group I
            metabotropic glutamate receptors: prototypic family C
            G-protein-coupled receptors
  JOURNAL   Biochem J 359 (Pt 3), 465-484 (2001)
   PUBMED   11672421
  REMARK    Review article
REFERENCE   6  (residues 1 to 908)
  AUTHORS   Brakeman PR, Lanahan AA, O'Brien R, Roche K, Barnes CA, Huganir RL
            and Worley PF.
  TITLE     Homer: a protein that selectively binds metabotropic glutamate
            receptors
  JOURNAL   Nature 386 (6622), 284-288 (1997)
   PUBMED   9069287
REFERENCE   7  (residues 1 to 908)
  AUTHORS   Laurie DJ, Boddeke HW, Hiltscher R and Sommer B.
  TITLE     HmGlu1d, a novel splice variant of the human type I metabotropic
            glutamate receptor
  JOURNAL   Eur J Pharmacol 296 (2), R1-R3 (1996)
   PUBMED   8838462
  REMARK    Erratum:[Eur J Pharmacol. 1996 Apr 29;302(1-3):229. PMID: 8791012]
REFERENCE   8  (residues 1 to 908)
  AUTHORS   Stephan D, Bon C, Holzwarth JA, Galvan M and Pruss RM.
  TITLE     Human metabotropic glutamate receptor 1: mRNA distribution,
            chromosome localization and functional expression of two splice
            variants
  JOURNAL   Neuropharmacology 35 (12), 1649-1660 (1996)
   PUBMED   9076744
REFERENCE   9  (residues 1 to 908)
  AUTHORS   Desai MA, Burnett JP, Mayne NG and Schoepp DD.
  TITLE     Cloning and expression of a human metabotropic glutamate receptor 1
            alpha: enhanced coupling on co-transfection with a glutamate
            transporter
  JOURNAL   Mol Pharmacol 48 (4), 648-657 (1995)
   PUBMED   7476890
REFERENCE   10 (residues 1 to 908)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L76631.1, BC143779.1,
            AB208837.1 and L76627.1.
            
            Summary: This gene encodes a metabotropic glutamate receptor that
            functions by activating phospholipase C. L-glutamate is the major
            excitatory neurotransmitter in the central nervous system and
            activates both ionotropic and metabotropic glutamate receptors.
            Glutamatergic neurotransmission is involved in most aspects of
            normal brain function and can be perturbed in many neuropathologic
            conditions. The canonical alpha isoform of the encoded protein is a
            disulfide-linked homodimer whose activity is mediated by a
            G-protein-coupled phosphatidylinositol-calcium second messenger
            system. This gene may be associated with many disease states,
            including schizophrenia, bipolar disorder, depression, and breast
            cancer. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, May
            2013].
            
            Transcript Variant: This variant (6) uses an alternate splice site
            in the 3' coding region, which results in a frameshift, compared to
            variant 3. The encoded isoform (d) is shorter and contains a
            distinct C-terminus, compared to isoform alpha. Isoform d may have
            a distinct function compared to isoform alpha (PMID: 9776379).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC143779.1, SRR1803612.251769.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465402, SAMN03465404
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..908
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.3"
     Protein         1..908
                     /product="metabotropic glutamate receptor 1 isoform d
                     precursor"
                     /note="protein phosphatase 1, regulatory subunit 85;
                     glutamate receptor, metabotropic 1"
                     /calculated_mol_wt=99435
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2057
     mat_peptide     19..908
                     /product="metabotropic glutamate receptor 1 isoform d"
                     /calculated_mol_wt=99435
     Region          36..510
                     /region_name="PBP1_mGluR_groupI"
                     /note="ligand binding domain of the group I metabotropic
                     glutamate receptor; cd06374"
                     /db_xref="CDD:380597"
     Site            order(74,165,186..188,236,318,409)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:380597"
     Site            98
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13255.3)"
     Site            order(113,116..117,120,124,173..174,176..178,199,242,245,
                     260)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:380597"
     Site            223
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|Ref.7; propagated from
                     UniProtKB/Swiss-Prot (Q13255.3)"
     Site            397
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13255.3)"
     Site            515
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13255.3)"
     Region          521..571
                     /region_name="NCD3G"
                     /note="Nine Cysteines Domain of family 3 GPCR; pfam07562"
                     /db_xref="CDD:429539"
     Region          591..840
                     /region_name="7tmC_mGluR1"
                     /note="metabotropic glutamate receptor 1 in group 1,
                     member of the class C family of seven-transmembrane G
                     protein-coupled receptors; cd15449"
                     /db_xref="CDD:320565"
     Region          591..616
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320565"
     Site            593..615
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13255.3)"
     Site            order(594,597..598,601..602,604..605,639,643,646..647,655,
                     659)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:320565"
     Region          628..649
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320565"
     Site            630..650
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13255.3)"
     Site            order(648,660..661,664..665,668,748,753,756..757,760,794,
                     797..798,801,805,811..812,815,818,822)
                     /site_type="other"
                     /note="allosteric modulator binding site [chemical
                     binding]"
                     /db_xref="CDD:320565"
     Region          658..682
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320565"
     Site            659..680
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13255.3)"
     Site            704..727
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13255.3)"
     Region          706..726
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320565"
     Region          749..775
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320565"
     Site            751..772
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13255.3)"
     Region          783..806
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320565"
     Site            786..807
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13255.3)"
     Region          809..834
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320565"
     Site            816..840
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13255.3)"
     Site            853
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97772; propagated from
                     UniProtKB/Swiss-Prot (Q13255.3)"
     Site            871
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P97772; propagated from
                     UniProtKB/Swiss-Prot (Q13255.3)"
     CDS             1..908
                     /gene="GRM1"
                     /gene_synonym="GPRC1A; MGLU1; MGLUR1; PPP1R85; SCA44;
                     SCAR13"
                     /coded_by="NM_001278067.1:321..3047"
                     /note="isoform d precursor is encoded by transcript
                     variant 6"
                     /db_xref="CCDS:CCDS64548.1"
                     /db_xref="GeneID:2911"
                     /db_xref="HGNC:HGNC:4593"
                     /db_xref="MIM:604473"
ORIGIN      
        1 mvglllfffp aiflevsllp rspgrkvlla gassqrsvar mdgdviigal fsvhhqppae
       61 kvperkcgei reqygiqrve amfhtldkin adpvllpnit lgseirdscw hssvaleqsi
      121 efirdslisi rdekdginrc lpdgqslppg rtkkpiagvi gpgsssvaiq vqnllqlfdi
      181 pqiaysatsi dlsdktlyky flrvvpsdtl qaramldivk rynwtyvsav htegnygesg
      241 mdafkelaaq eglciahsdk iysnageksf drllrklrer lpkarvvvcf cegmtvrgll
      301 samrrlgvvg efsligsdgw adrdeviegy eveanggiti klqspevrsf ddyflklrld
      361 tntrnpwfpe fwqhrfqcrl pghllenpnf krictgnesl eenyvqdskm gfvinaiyam
      421 ahglqnmhha lcpghvglcd amkpidgskl ldflikssfi gvsgeevwfd ekgdapgryd
      481 imnlqytean rydyvhvgtw hegvlniddy kiqmnksgvv rsvcsepclk gqikvirkge
      541 vsccwictac keneyvqdef tckacdlgww pnadltgcep ipvrylewsn iesiiaiafs
      601 clgilvtlfv tlifvlyrdt pvvksssrel cyiilagifl gyvcpftlia kptttscylq
      661 rllvglssam cysalvtktn riarilagsk kkictrkprf msawaqviia silisvqltl
      721 vvtliimepp mpilsypsik evylicntsn lgvvaplgyn gllimsctyy afktrnvpan
      781 fneakyiaft myttciiwla fvpiyfgsny kiittcfavs lsvtvalgcm ftpkmyiiia
      841 kpernvrsaf ttsdvvrmhv gdgklpcrsn tflnifrrkk agagnakwrt gaqgtayvap
      901 plcaredq
//
LOCUS       NP_005364                635 aa            linear   PRI 26-FEB-2023
DEFINITION  thrombopoietin receptor precursor [Homo sapiens].
ACCESSION   NP_005364
VERSION     NP_005364.1
DBSOURCE    REFSEQ: accession NM_005373.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 635)
  AUTHORS   Lilleskare S, Vorland M, Vo AK, Aarsand AK and Reikvam H.
  TITLE     Frequency of JAK2V617F, MPL and CALR driver mutations and
            associated clinical characteristics in a Norwegian patient cohort
            with myeloproliferative neoplasms
  JOURNAL   Scand J Clin Lab Invest 83 (1), 3-7 (2023)
   PUBMED   36476017
  REMARK    GeneRIF: Frequency of JAK2V617F, MPL and CALR driver mutations and
            associated clinical characteristics in a Norwegian patient cohort
            with myeloproliferative neoplasms.
REFERENCE   2  (residues 1 to 635)
  AUTHORS   Basim Najm M, Jalal SD and Getta HA.
  TITLE     The Impact of JAK2 V617F, CALR, and MPL Mutations as Molecular
            Diagnostic Markers of Myeloproliferative Neoplasms in Kurdish
            Patients. A Single-center Experience
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 68 (8), 202-209 (2022)
   PUBMED   36800830
  REMARK    GeneRIF: The Impact of JAK2 V617F, CALR, and MPL Mutations as
            Molecular Diagnostic Markers of Myeloproliferative Neoplasms in
            Kurdish Patients. A Single-center Experience.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 635)
  AUTHORS   Hsiao HH, Yang MY, Liu YC, Lee CP, Yang WC, Liu TC, Chang CS and
            Lin SF.
  TITLE     The association of JAK2V617F mutation and leukocytosis with
            thrombotic events in essential thrombocythemia
  JOURNAL   Exp Hematol 35 (11), 1704-1707 (2007)
   PUBMED   17920754
REFERENCE   4  (residues 1 to 635)
  AUTHORS   Norton,A., Fisher,C., Liu,H., Wen,Q., Mundschau,G., Fuster,J.L.,
            Hasle,H., Zeller,B., Webb,D.K., O'Marcaigh,A., Sorrell,A.,
            Hilden,J., Gamis,A., Crispino,J.D. and Vyas,P.
  TITLE     Analysis of JAK3, JAK2, and C-MPL mutations in transient
            myeloproliferative disorder and myeloid leukemia of Down syndrome
            blasts in children with Down syndrome
  JOURNAL   Blood 110 (3), 1077-1079 (2007)
   PUBMED   17644747
REFERENCE   5  (residues 1 to 635)
  AUTHORS   Guglielmelli P, Pancrazzi A, Bergamaschi G, Rosti V, Villani L,
            Antonioli E, Bosi A, Barosi G and Vannucchi AM.
  CONSRTM   GIMEMA--Italian Registry of Myelofibrosis; MPD Research Consortium
  TITLE     Anaemia characterises patients with myelofibrosis harbouring Mpl
            mutation
  JOURNAL   Br J Haematol 137 (3), 244-247 (2007)
   PUBMED   17408465
  REMARK    GeneRIF: MPL mutation in myelofibrosis characterises patients with
            more severe anaemic phenotype
REFERENCE   6  (residues 1 to 635)
  AUTHORS   Lasho TL, Pardanani A, McClure RF, Mesa RA, Levine RL, Gilliland DG
            and Tefferi A.
  TITLE     Concurrent MPL515 and JAK2V617F mutations in myelofibrosis:
            chronology of clonal emergence and changes in mutant allele burden
            over time
  JOURNAL   Br J Haematol 135 (5), 683-687 (2006)
   PUBMED   17107350
REFERENCE   7  (residues 1 to 635)
  AUTHORS   Pardanani AD, Levine RL, Lasho T, Pikman Y, Mesa RA, Wadleigh M,
            Steensma DP, Elliott MA, Wolanskyj AP, Hogan WJ, McClure RF, Litzow
            MR, Gilliland DG and Tefferi A.
  TITLE     MPL515 mutations in myeloproliferative and other myeloid disorders:
            a study of 1182 patients
  JOURNAL   Blood 108 (10), 3472-3476 (2006)
   PUBMED   16868251
  REMARK    GeneRIF: MPLW515L or MPLW515K mutations are present in patients
            with MMM or ET at a frequency of approximately 5% and 1%,
            respectively, but are not observed in patients with polycythemia
            vera (PV) or other myeloid disorders
            GeneRIF: Observational study of genotype prevalence. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 635)
  AUTHORS   Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M, Cuker A,
            Wernig G, Moore S, Galinsky I, DeAngelo DJ, Clark JJ, Lee SJ, Golub
            TR, Wadleigh M, Gilliland DG and Levine RL.
  TITLE     MPLW515L is a novel somatic activating mutation in myelofibrosis
            with myeloid metaplasia
  JOURNAL   PLoS Med 3 (7), e270 (2006)
   PUBMED   16834459
  REMARK    GeneRIF: Activation of JAK-STAT signaling via a somatic activating
            mutation in the transmembrane domain of MPL (MPLW515L) is an
            important pathogenetic event in patients with JAK2V617F-negative
            MF.
REFERENCE   9  (residues 1 to 635)
  AUTHORS   Vigon I, Mornon JP, Cocault L, Mitjavila MT, Tambourin P,
            Gisselbrecht S and Souyri M.
  TITLE     Molecular cloning and characterization of MPL, the human homolog of
            the v-mpl oncogene: identification of a member of the hematopoietic
            growth factor receptor superfamily
  JOURNAL   Proc Natl Acad Sci U S A 89 (12), 5640-5644 (1992)
   PUBMED   1608974
REFERENCE   10 (residues 1 to 635)
  AUTHORS   Souyri M, Vigon I, Penciolelli JF, Heard JM, Tambourin P and
            Wendling F.
  TITLE     A putative truncated cytokine receptor gene transduced by the
            myeloproliferative leukemia virus immortalizes hematopoietic
            progenitors
  JOURNAL   Cell 63 (6), 1137-1147 (1990)
   PUBMED   2175677
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139289.6 and M90102.1.
            
            Summary: In 1990 an oncogene, v-mpl, was identified from the murine
            myeloproliferative leukemia virus that was capable of immortalizing
            bone marrow hematopoietic cells from different lineages. In 1992
            the human homologue, named, c-mpl, was cloned. Sequence data
            revealed that c-mpl encoded a protein that was homologous with
            members of the hematopoietic receptor superfamily. Presence of
            anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte
            colony formation. The ligand for c-mpl, thrombopoietin, was cloned
            in 1994. Thrombopoietin was shown to be the major regulator of
            megakaryocytopoiesis and platelet formation. The protein encoded by
            the c-mpl gene, CD110, is a 635 amino acid transmembrane domain,
            with two extracellular cytokine receptor domains and two
            intracellular cytokine receptor box motifs . TPO-R deficient mice
            were severely thrombocytopenic, emphasizing the important role of
            CD110 and thrombopoietin in megakaryocyte and platelet formation.
            Upon binding of thrombopoietin CD110 is dimerized and the JAK
            family of non-receptor tyrosine kinases, as well as the STAT
            family, the MAPK family, the adaptor protein Shc and the receptors
            themselves become tyrosine phosphorylated. [provided by RefSeq, Jul
            2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M90102.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372470.9/ ENSP00000361548.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..635
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..635
                     /product="thrombopoietin receptor precursor"
                     /note="thrombopoietin receptor; TPO-R; myeloproliferative
                     leukemia protein; proto-oncogene c-Mpl; myeloproliferative
                     leukemia virus oncogene"
                     /calculated_mol_wt=68555
     sig_peptide     1..25
                     /calculated_mol_wt=2708
     Region          25..128
                     /region_name="EpoR_lig-bind"
                     /note="Erythropoietin receptor, ligand binding; pfam09067"
                     /db_xref="CDD:401127"
     mat_peptide     26..635
                     /product="thrombopoietin receptor"
                     /calculated_mol_wt=68555
     Site            117
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P40238.1)"
     Site            178
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P40238.1)"
     Region          205..232
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P40238.1)"
     Site            298
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P40238.1)"
     Site            358
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P40238.1)"
     Region          395..485
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Region          474..478
                     /region_name="WSXWS motif"
                     /note="propagated from UniProtKB/Swiss-Prot (P40238.1)"
     Site            order(474..475,477..478)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            492..513
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P40238.1)"
     Region          528..536
                     /region_name="Box 1 motif"
                     /note="propagated from UniProtKB/Swiss-Prot (P40238.1)"
     CDS             1..635
                     /gene="MPL"
                     /gene_synonym="C-MPL; CD110; MPLV; THCYT2; THPOR; TPOR"
                     /coded_by="NM_005373.3:32..1939"
                     /db_xref="CCDS:CCDS483.1"
                     /db_xref="GeneID:4352"
                     /db_xref="HGNC:HGNC:7217"
                     /db_xref="MIM:159530"
ORIGIN      
        1 mpswalfmvt sclllapqnl aqvssqdvsl lasdseplkc fsrtfedltc fwdeeeaaps
       61 gtyqllyayp rekpracpls sqsmphfgtr yvcqfpdqee vrlffplhlw vknvflnqtr
      121 tqrvlfvdsv glpappsiik amggsqpgel qisweepape isdflryelr ygprdpknst
      181 gptviqliat etccpalqrp hsasaldqsp caqptmpwqd gpkqtspsre asaltaeggs
      241 clisglqpgn sywlqlrsep dgislggswg swslpvtvdl pgdavalglq cftldlknvt
      301 cqwqqqdhas sqgffyhsra rccprdrypi wenceeeekt npglqtpqfs rchfksrnds
      361 iihilvevtt apgtvhsylg spfwihqavr lptpnlhwre issghlelew qhpsswaaqe
      421 tcyqlrytge ghqdwkvlep plgarggtle lrprsryrlq lrarlngpty qgpwsswsdp
      481 trvetateta wislvtalhl vlglsavlgl lllrwqfpah yrrlrhalwp slpdlhrvlg
      541 qylrdtaals ppkatvsdtc eevepsllei lpkssertpl plcssqaqmd yrrlqpsclg
      601 tmplsvcppm aesgscctth ianhsylpls ywqqp
//
LOCUS       NP_073620                409 aa            linear   PRI 15-MAR-2023
DEFINITION  DEP domain-containing mTOR-interacting protein isoform 1 [Homo
            sapiens].
ACCESSION   NP_073620
VERSION     NP_073620.2
DBSOURCE    REFSEQ: accession NM_022783.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 409)
  AUTHORS   Zhang S, You X, Zheng Y, Shen Y, Xiong X and Sun Y.
  TITLE     The UBE2C/CDH1/DEPTOR axis is an oncogene and tumor suppressor
            cascade in lung cancer cells
  JOURNAL   J Clin Invest 133 (4), e162434 (2023)
   PUBMED   36548081
  REMARK    GeneRIF: The UBE2C/CDH1/DEPTOR axis is an oncogene and tumor
            suppressor cascade in lung cancer cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 409)
  AUTHORS   Guo J, Yu J, Mu M, Chen Z, Xu Z, Zhao C, Yang K, Zheng J, Qin X,
            Zhao W and Sun X.
  TITLE     DFNA5 inhibits colorectal cancer proliferation by suppressing the
            mTORC1/2 signaling pathways via upregulation of DEPTOR
  JOURNAL   Cell Cycle 21 (20), 2165-2178 (2022)
   PUBMED   35923131
  REMARK    GeneRIF: DFNA5 inhibits colorectal cancer proliferation by
            suppressing the mTORC1/2 signaling pathways via upregulation of
            DEPTOR.
REFERENCE   3  (residues 1 to 409)
  AUTHORS   Vega M, Chen Y, Shi Y, Gera J and Lichtenstein A.
  TITLE     Turnover of the mTOR inhibitor, DEPTOR, and downstream AKT
            phosphorylation in multiple myeloma cells, is dependent on
            ERK1-mediated phosphorylation
  JOURNAL   J Biol Chem 298 (4), 101750 (2022)
   PUBMED   35216969
  REMARK    GeneRIF: Turnover of the mTOR inhibitor, DEPTOR, and downstream AKT
            phosphorylation in multiple myeloma cells, is dependent on
            ERK1-mediated phosphorylation.
REFERENCE   4  (residues 1 to 409)
  AUTHORS   M Gagne L, Morin N, Lavoie N, Bisson N, Lambert JP, Mallette FA and
            Huot ME.
  TITLE     Tyrosine phosphorylation of DEPTOR functions as a molecular switch
            to activate mTOR signaling
  JOURNAL   J Biol Chem 297 (5), 101291 (2021)
   PUBMED   34634301
  REMARK    GeneRIF: Tyrosine phosphorylation of DEPTOR functions as a
            molecular switch to activate mTOR signaling.
REFERENCE   5  (residues 1 to 409)
  AUTHORS   Walchli M, Berneiser K, Mangia F, Imseng S, Craigie LM, Stuttfeld
            E, Hall MN and Maier T.
  TITLE     Regulation of human mTOR complexes by DEPTOR
  JOURNAL   Elife 10, e70871 (2021)
   PUBMED   34519268
  REMARK    GeneRIF: Regulation of human mTOR complexes by DEPTOR.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 409)
  AUTHORS   Mparmpakas D, Zachariades E, Goumenou A, Gidron Y and Karteris E.
  TITLE     Placental DEPTOR as a stress sensor during pregnancy
  JOURNAL   Clin Sci (Lond) 122 (7), 349-359 (2012)
   PUBMED   21992080
  REMARK    GeneRIF: These novel findings are indicative of a higher order of
            complexity of DEPTOR signalling in the human placenta that is
            affected by maternal stress.
REFERENCE   7  (residues 1 to 409)
  AUTHORS   Pei L, Xie P, Zhou E, Yang Q, Luo Y and Tang Z.
  TITLE     Overexpression of DEP domain containing mTOR-interacting protein
            correlates with poor prognosis in differentiated thyroid carcinoma
  JOURNAL   Mol Med Rep 4 (5), 817-823 (2011)
   PUBMED   21643629
  REMARK    GeneRIF: DEPTOR is a novel prognostic marker for differentiated
            thyroid carcinoma.
REFERENCE   8  (residues 1 to 409)
  AUTHORS   Boyd,K.D., Walker,B.A., Wardell,C.P., Ross,F.M., Gregory,W.M.,
            Davies,F.E. and Morgan,G.J.
  TITLE     High expression levels of the mammalian target of rapamycin
            inhibitor DEPTOR are predictive of response to thalidomide in
            myeloma
  JOURNAL   Leuk Lymphoma 51 (11), 2126-2129 (2010)
   PUBMED   20858096
  REMARK    GeneRIF: High expression levels of DEPTOR are predictive of
            response to thalidomide in myeloma.
REFERENCE   9  (residues 1 to 409)
  AUTHORS   Peterson TR, Laplante M, Thoreen CC, Sancak Y, Kang SA, Kuehl WM,
            Gray NS and Sabatini DM.
  TITLE     DEPTOR is an mTOR inhibitor frequently overexpressed in multiple
            myeloma cells and required for their survival
  JOURNAL   Cell 137 (5), 873-886 (2009)
   PUBMED   19446321
  REMARK    GeneRIF: DEPTOR is highly overexpressed in a subset of multiple
            myelomas harboring cyclin D1/D3 or c-MAF/MAFB translocations.
REFERENCE   10 (residues 1 to 409)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP005717.3, AK023916.1 and AC091563.9.
            On Jun 10, 2008 this sequence version replaced NP_073620.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.847676.1,
                                           SRR1803615.133642.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000286234.6/ ENSP00000286234.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..409
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.12"
     Protein         1..409
                     /product="DEP domain-containing mTOR-interacting protein
                     isoform 1"
                     /note="DEP domain containing 6; DEP domain-containing
                     mTOR-interacting protein; DEP domain-containing protein 6"
                     /calculated_mol_wt=46163
     Region          1..25
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TB45.2)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8TB45.2)"
     Region          36..117
                     /region_name="DEP_1_DEP6"
                     /note="DEP (Dishevelled, Egl-10, and Pleckstrin) domain 1
                     found in DEP6-like proteins. DEP6 proteins contain two DEP
                     and a PDZ domain. Their function is unknown; cd04442"
                     /db_xref="CDD:239889"
     Region          133..217
                     /region_name="DEP_2_DEP6"
                     /note="DEP (Dishevelled, Egl-10, and Pleckstrin) domain 2
                     found in DEP6-like proteins. DEP6 proteins contain two DEP
                     and a PDZ domain. Their function is unknown; cd04441"
                     /db_xref="CDD:239888"
     Site            241
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:19446321; propagated from
                     UniProtKB/Swiss-Prot (Q8TB45.2)"
     Site            244
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19446321,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TB45.2)"
     Site            258
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19446321; propagated from
                     UniProtKB/Swiss-Prot (Q8TB45.2)"
     Site            259
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:19446321; propagated from
                     UniProtKB/Swiss-Prot (Q8TB45.2)"
     Site            263
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19446321; propagated from
                     UniProtKB/Swiss-Prot (Q8TB45.2)"
     Site            265
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19446321; propagated from
                     UniProtKB/Swiss-Prot (Q8TB45.2)"
     Site            280
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q570Y9; propagated from
                     UniProtKB/Swiss-Prot (Q8TB45.2)"
     Site            282
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19446321; propagated from
                     UniProtKB/Swiss-Prot (Q8TB45.2)"
     Site            283
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19446321; propagated from
                     UniProtKB/Swiss-Prot (Q8TB45.2)"
     Site            287
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19446321; propagated from
                     UniProtKB/Swiss-Prot (Q8TB45.2)"
     Site            293
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19446321; propagated from
                     UniProtKB/Swiss-Prot (Q8TB45.2)"
     Site            297
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19446321; propagated from
                     UniProtKB/Swiss-Prot (Q8TB45.2)"
     Site            298
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19446321; propagated from
                     UniProtKB/Swiss-Prot (Q8TB45.2)"
     Site            299
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19446321; propagated from
                     UniProtKB/Swiss-Prot (Q8TB45.2)"
     Region          339..403
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(339..342,344,388..389,392..393)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     CDS             1..409
                     /gene="DEPTOR"
                     /gene_synonym="DEP.6; DEPDC6"
                     /coded_by="NM_022783.4:126..1355"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS6331.1"
                     /db_xref="GeneID:64798"
                     /db_xref="HGNC:HGNC:22953"
                     /db_xref="MIM:612974"
ORIGIN      
        1 meeggstgsa gsdsstsgsg gaqqrelerm aevlvtgeql rlrlheekvi kdrrhhlkty
       61 pncfvakeli dwliehkeas dretaiklmq kladrgiihh vcdehkefkd vklfyrfrkd
      121 dgtfpldnev kafmrgqrly eklmspentl lqpreeegvk yertfmasef ldwlvqegea
      181 ttrkeaeqlc hrlmehgiiq hvsnkhpfvd snllyqfrmn frrrrrlmel lnekspssqe
      241 thdspfclrk qshdnrksts fmsvspskei kivsavrrss msscgssgyf sssptlsssp
      301 pvlcnpksvl krpvtseell tpgapyarkt ftivgdavgw gfvvrgskpc hiqavdpsgp
      361 aaaagmkvcq fvvsvnglnv lhvdyrtvsn liltgprtiv mevmeelec
//
LOCUS       NP_001129430             804 aa            linear   PRI 17-MAR-2023
DEFINITION  short transient receptor potential channel 4 isoform zeta [Homo
            sapiens].
ACCESSION   NP_001129430
VERSION     NP_001129430.1
DBSOURCE    REFSEQ: accession NM_001135958.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 804)
  AUTHORS   Chen Z, Zhao Y, Tian Y, Cao R and Shang D.
  TITLE     Pan-Cancer Analysis of the TRP Family, Especially TRPV4 and TRPC4,
            and Its Expression Correlated with Prognosis, Tumor
            Microenvironment, and Treatment Sensitivity
  JOURNAL   Biomolecules 13 (2), 282 (2023)
   PUBMED   36830651
  REMARK    GeneRIF: Pan-Cancer Analysis of the TRP Family, Especially TRPV4
            and TRPC4, and Its Expression Correlated with Prognosis, Tumor
            Microenvironment, and Treatment Sensitivity.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 804)
  AUTHORS   Kurz B, Michael HP, Forch A, Wallner S, Zeman F, Decking SM, Ugele
            I, Hintschich C, Haubner F, Ettl T, Renner K, Brochhausen C and
            Schreml S.
  TITLE     Expression of pH-Sensitive TRPC4 in Common Skin Tumors
  JOURNAL   Int J Mol Sci 24 (2), 1037 (2023)
   PUBMED   36674553
  REMARK    GeneRIF: Expression of pH-Sensitive TRPC4 in Common Skin Tumors.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 804)
  AUTHORS   Gotz V, Qiao S, Beck A and Boehm U.
  TITLE     Transient receptor potential (TRP) channel function in the
            reproductive axis
  JOURNAL   Cell Calcium 67, 138-147 (2017)
   PUBMED   28522036
  REMARK    Review article
REFERENCE   4  (residues 1 to 804)
  AUTHORS   Dietrich A, Steinritz D and Gudermann T.
  TITLE     Transient receptor potential (TRP) channels as molecular targets in
            lung toxicology and associated diseases
  JOURNAL   Cell Calcium 67, 123-137 (2017)
   PUBMED   28499580
  REMARK    Review article
REFERENCE   5  (residues 1 to 804)
  AUTHORS   Zeng B, Yuan C, Yang X, Atkin SL and Xu SZ.
  TITLE     TRPC channels and their splice variants are essential for promoting
            human ovarian cancer cell proliferation and tumorigenesis
  JOURNAL   Curr Cancer Drug Targets 13 (1), 103-116 (2013)
   PUBMED   22920441
REFERENCE   6  (residues 1 to 804)
  AUTHORS   von Spiczak S, Muhle H, Helbig I, de Kovel CG, Hampe J, Gaus V,
            Koeleman BP, Lindhout D, Schreiber S, Sander T and Stephani U.
  TITLE     Association study of TRPC4 as a candidate gene for generalized
            epilepsy with photosensitivity
  JOURNAL   Neuromolecular Med 12 (3), 292-299 (2010)
   PUBMED   20574736
  REMARK    GeneRIF: Results showed a trend toward association of TRPC4
            variants and photoparoxysmal response/idiopathic generalized
            epilepsies.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 804)
  AUTHORS   Schaefer M, Plant TD, Stresow N, Albrecht N and Schultz G.
  TITLE     Functional differences between TRPC4 splice variants
  JOURNAL   J Biol Chem 277 (5), 3752-3759 (2002)
   PUBMED   11713258
REFERENCE   8  (residues 1 to 804)
  AUTHORS   Mery L, Magnino F, Schmidt K, Krause KH and Dufour JF.
  TITLE     Alternative splice variants of hTrp4 differentially interact with
            the C-terminal portion of the inositol 1,4,5-trisphosphate
            receptors
  JOURNAL   FEBS Lett 487 (3), 377-383 (2001)
   PUBMED   11163362
REFERENCE   9  (residues 1 to 804)
  AUTHORS   McKay RR, Szymeczek-Seay CL, Lievremont JP, Bird GS, Zitt C,
            Jungling E, Luckhoff A and Putney JW Jr.
  TITLE     Cloning and expression of the human transient receptor potential 4
            (TRP4) gene: localization and functional expression of human TRP4
            and TRP3
  JOURNAL   Biochem J 351 Pt 3 (Pt 3), 735-746 (2000)
   PUBMED   11042129
REFERENCE   10 (residues 1 to 804)
  AUTHORS   Zhu X, Jiang M, Peyton M, Boulay G, Hurst R, Stefani E and
            Birnbaumer L.
  TITLE     trp, a novel mammalian gene family essential for agonist-activated
            capacitative Ca2+ entry
  JOURNAL   Cell 85 (5), 661-671 (1996)
   PUBMED   8646775
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356495.15, AL354802.15 and
            AL138679.11.
            
            Summary: This gene encodes a member of the canonical subfamily of
            transient receptor potential cation channels. The encoded protein
            forms a non-selective calcium-permeable cation channel that is
            activated by Gq-coupled receptors and tyrosine kinases, and plays a
            role in multiple processes including endothelial permeability,
            vasodilation, neurotransmitter release and cell proliferation.
            Single nucleotide polymorphisms in this gene may be associated with
            generalized epilepsy with photosensitivity. Alternatively spliced
            transcript variants encoding multiple isoforms have been observed
            for this gene. [provided by RefSeq, Aug 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1090868.1,
                                           SRR14372079.1412462.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149398 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..804
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.3"
     Protein         1..804
                     /product="short transient receptor potential channel 4
                     isoform zeta"
                     /note="short transient receptor potential channel 4;
                     trp-related protein 4"
                     /calculated_mol_wt=92091
     Region          17..576
                     /region_name="TRPV"
                     /note="Transient Receptor Potential channel, Vanilloid
                     subfamily (TRPV); cl40437"
                     /db_xref="CDD:454755"
     Region          31..60
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBN4.1)"
     Region          69..97
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBN4.1)"
     CDS             1..804
                     /gene="TRPC4"
                     /gene_synonym="HTRP-4; HTRP4; TRP4"
                     /coded_by="NM_001135958.3:206..2620"
                     /note="isoform zeta is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS45035.1"
                     /db_xref="GeneID:7223"
                     /db_xref="HGNC:HGNC:12336"
                     /db_xref="MIM:603651"
ORIGIN      
        1 maqfyykrnv napyrdripl rivraesels psekaylnav ekgdyasvkk sleeaeiyfk
       61 inincidplg rtalliaien enlelielll sfnvyvgdal lhairkevvg avelllnhkk
      121 psgekqfvaq pncqqllasr wydefpgwrr rhwavkmvtc fiigllfpvf svcyliapks
      181 plglfirkpf ikfichtasy ltflflllla sqhidrsdln rqgppptive wmilpwvlgf
      241 iwgeikqmwd gglqdyihdw wnlmdfvmns lylatislki vafvkysaln preswdmwhp
      301 tlvaealfai anifsslrli slftanshlg plqislgrml ldilkflfiy clvllafang
      361 lnqlyfyyee tkgltckgir cekqnnafst lfetlqslfw sifglinlyv tnvkaqheft
      421 efvgatmfgt ynvislvvll nmliammnns yqliadhadi ewkfartklw msyfeeggtl
      481 ptpfnvipsp kslwylikwi wthlckkkmr rkpesfgtig rraadnlrrh hqyqevmrnl
      541 vkryvaamir dakteeglte enfkelkqdi ssfrfevlgl lrgsklstiq sanaskessn
      601 sadsdeksds egnskdkkkn fslfdlttli hprsaaiase rhnisngsal vvqepprekq
      661 rkvnfvtdik nfglfhrrsk qnaaeqnanq ifsvseevar qqaagplern iqlesrglas
      721 rgdlsipgls eqcvlvdhre rntdtlglqv gkrvcpfkse kvvvedtvpi ipkekhakee
      781 dssidydlnl pdtvthedyv ttrl
//
LOCUS       NP_036342                653 aa            linear   PRI 19-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM32 [Homo sapiens].
ACCESSION   NP_036342
VERSION     NP_036342.2
DBSOURCE    REFSEQ: accession NM_012210.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 653)
  AUTHORS   Wan T, Wang Y, Wang C, Wang H, Li X and Li Y.
  TITLE     Overexpression of TRIM32 promotes pancreatic beta-cell autophagic
            cell death through Akt/mTOR pathway under high glucose conditions
  JOURNAL   Cell Biol Int 46 (12), 2095-2106 (2022)
   PUBMED   36040726
  REMARK    GeneRIF: Overexpression of TRIM32 promotes pancreatic beta-cell
            autophagic cell death through Akt/mTOR pathway under high glucose
            conditions.
REFERENCE   2  (residues 1 to 653)
  AUTHORS   Chen Z, Tian L, Wang L, Ma X, Lei F, Chen X and Fu R.
  TITLE     TRIM32 Inhibition Attenuates Apoptosis, Oxidative Stress, and
            Inflammatory Injury in Podocytes Induced by High Glucose by
            Modulating the Akt/GSK-3beta/Nrf2 Pathway
  JOURNAL   Inflammation 45 (3), 992-1006 (2022)
   PUBMED   34783942
  REMARK    GeneRIF: TRIM32 Inhibition Attenuates Apoptosis, Oxidative Stress,
            and Inflammatory Injury in Podocytes Induced by High Glucose by
            Modulating the Akt/GSK-3beta/Nrf2 Pathway.
REFERENCE   3  (residues 1 to 653)
  AUTHORS   Ma Y, Zhang H, Chen C, Liu L, Ding T, Wang Y, Ma D, Ling X, Chen X,
            Li J, Guansheng, Zhong, Ru G, Zhang L and Tang J.
  TITLE     TRIM32 promotes radioresistance by disrupting TC45-STAT3
            interaction in triple-negative breast cancer
  JOURNAL   Oncogene 41 (11), 1589-1599 (2022)
   PUBMED   35091679
  REMARK    GeneRIF: TRIM32 promotes radioresistance by disrupting TC45-STAT3
            interaction in triple-negative breast cancer.
REFERENCE   4  (residues 1 to 653)
  AUTHORS   Garcia-Garcia J, Overa KS, Khan W and Sjottem E.
  TITLE     Generation of the short TRIM32 isoform is regulated by Lys 247
            acetylation and a PEST sequence
  JOURNAL   PLoS One 16 (5), e0251279 (2021)
   PUBMED   33999923
  REMARK    GeneRIF: Generation of the short TRIM32 isoform is regulated by Lys
            247 acetylation and a PEST sequence.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 653)
  AUTHORS   Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L,
            Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci
            S, Pelicci PG and Ballabio A.
  TITLE     The tripartite motif family identifies cell compartments
  JOURNAL   EMBO J 20 (9), 2140-2151 (2001)
   PUBMED   11331580
REFERENCE   6  (residues 1 to 653)
  AUTHORS   Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ,
            Fujiwara TM, Morgan K and Wrogemann K.
  TITLE     A gene for autosomal recessive limb-girdle muscular dystrophy in
            Manitoba Hutterites maps to chromosome region 9q31-q33: evidence
            for another limb-girdle muscular dystrophy locus
  JOURNAL   Am J Hum Genet 63 (1), 140-147 (1998)
   PUBMED   9634523
REFERENCE   7  (residues 1 to 653)
  AUTHORS   Fridell RA, Harding LS, Bogerd HP and Cullen BR.
  TITLE     Identification of a novel human zinc finger protein that
            specifically interacts with the activation domain of lentiviral Tat
            proteins
  JOURNAL   Virology 209 (2), 347-357 (1995)
   PUBMED   7778269
REFERENCE   8  (residues 1 to 653)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   9  (residues 1 to 653)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   10 (residues 1 to 653)
  AUTHORS   Forsyth,R. and Gunay-Aygun,M.
  TITLE     Bardet-Biedl Syndrome Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301537
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133284.13.
            On Jul 25, 2007 this sequence version replaced NP_036342.1.
            
            Summary: The protein encoded by this gene is a member of the
            tripartite motif (TRIM) family. The TRIM motif includes three
            zinc-binding domains, a RING, a B-box type 1 and a B-box type 2,
            and a coiled-coil region. The protein localizes to cytoplasmic
            bodies. The protein has also been localized to the nucleus, where
            it interacts with the activation domain of the HIV-1 Tat protein.
            The Tat protein activates transcription of HIV-1 genes. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.33811.1,
                                           SRR11853564.27727.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000450136.2/ ENSP00000408292.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..653
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.1"
     Protein         1..653
                     /product="E3 ubiquitin-protein ligase TRIM32"
                     /EC_number="2.3.2.27"
                     /note="TAT-interactive protein, 72-KD; zinc-finger protein
                     HT2A; tripartite motif-containing protein 32; RING-type E3
                     ubiquitin transferase TRIM32; 72 kDa Tat-interacting
                     protein"
                     /calculated_mol_wt=71858
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.4;
                     propagated from UniProtKB/Swiss-Prot (Q13049.2)"
     Region          18..67
                     /region_name="RING-HC_TRIM32_C-VII"
                     /note="RING finger, HC subclass, found in tripartite
                     motif-containing protein 32 (TRIM32) and similar proteins;
                     cd16587"
                     /db_xref="CDD:438249"
     Region          98..138
                     /region_name="Bbox1_TRIM32_C-VII"
                     /note="B-box-type 1 zinc finger found in tripartite
                     motif-containing protein 32 (TRIM32) and similar proteins;
                     cd19806"
                     /db_xref="CDD:380864"
     Site            328
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8CH72; propagated from
                     UniProtKB/Swiss-Prot (Q13049.2)"
     Site            335
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13049.2)"
     Site            339
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13049.2)"
     Region          358..401
                     /region_name="NHL 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13049.2)"
     Region          362..644
                     /region_name="NHL_TRIM32_like"
                     /note="NHL repeat domain of the tripartite
                     motif-containing protein 32 (TRIM32) and related proteins;
                     cd14961"
                     /db_xref="CDD:271331"
     Region          374..414
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271331"
     Region          415..458
                     /region_name="NHL 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13049.2)"
     Region          431..470
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271331"
     Region          459..499
                     /region_name="NHL 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13049.2)"
     Region          472..512
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271331"
     Region          513..564
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271331"
     Region          562..605
                     /region_name="NHL 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13049.2)"
     Region          577..609
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271331"
     Region          606..646
                     /region_name="NHL 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13049.2)"
     Region          617..643
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271331"
     CDS             1..653
                     /gene="TRIM32"
                     /gene_synonym="BBS11; HT2A; LGMD2H; LGMDR8; TATIP"
                     /coded_by="NM_012210.4:159..2120"
                     /db_xref="CCDS:CCDS6817.1"
                     /db_xref="GeneID:22954"
                     /db_xref="HGNC:HGNC:16380"
                     /db_xref="MIM:602290"
ORIGIN      
        1 maaaaashln ldalrevlec picmesftee qlrpkllhcg hticrqclek llassingvr
       61 cpfcskitri tsltqltdnl tvlkiidtag lseavgllmc rscgrrlprq fcrscglvlc
      121 epcreadhqp pghctlpvke aaeerrrdfg ekltrlrelm gelqrrkaal egvskdlqar
      181 ykavlqeygh eerrvqdela rsrkfftgsl aeveksnsqv veeqsyllni aevqavsrcd
      241 yflakikqad valleetade eepeltaslp reltlqdvel lkvghvgplq igqavkkprt
      301 vnvedswame atasaastsv tfremdmspe evvasprasp akqrgpeaas niqqclflkk
      361 mgakgstpgm fnlpvslyvt sqgevlvadr gnyriqvftr kgflkeirrs psgidsfvls
      421 flgadlpnlt plsvamncqg ligvtdsydn slkvytldgh cvachrsqls kpwgitalps
      481 gqfvvtdveg gklwcftvdr gsgvvkyscl csavrpkfvt cdaegtvyft qglglnlenr
      541 qnehhleggf sigsvgpdgq lgrqishffs enedfrciag mcvdargdli vadssrkeil
      601 hfpkgggysv liregltcpv gialtpkgql lvldcwdhci kiysyhlrry stp
//
LOCUS       NP_942136               2346 aa            linear   PRI 19-MAR-2023
DEFINITION  acetyl-CoA carboxylase 1 isoform 2 [Homo sapiens].
ACCESSION   NP_942136
VERSION     NP_942136.1
DBSOURCE    REFSEQ: accession NM_198839.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2346)
  AUTHORS   Liu S, Lai J, Feng Y, Zhuo Y, Zhang H, Chen Y, Li J, Mei X, Zeng Y,
            Su J, Deng Y, Jiang F, Yang S, Tan H, Hon CT, Wei S, Han Z, Wang F
            and Zhong W.
  TITLE     Acetyl-CoA carboxylase 1 depletion suppresses de novo fatty acid
            synthesis and mitochondrial beta-oxidation in castration-resistant
            prostate cancer cells
  JOURNAL   J Biol Chem 299 (1), 102720 (2023)
   PUBMED   36410440
  REMARK    GeneRIF: Acetyl-CoA carboxylase 1 depletion suppresses de novo
            fatty acid synthesis and mitochondrial beta-oxidation in
            castration-resistant prostate cancer cells.
REFERENCE   2  (residues 1 to 2346)
  AUTHORS   Yang Y, Luo D, Shao Y, Shan Z, Liu Q, Weng J, He W, Zhang R, Li Q,
            Wang Z and Li X.
  TITLE     circCAPRIN1 interacts with STAT2 to promote tumor progression and
            lipid synthesis via upregulating ACC1 expression in colorectal
            cancer
  JOURNAL   Cancer Commun (Lond) 43 (1), 100-122 (2023)
   PUBMED   36328987
  REMARK    GeneRIF: circCAPRIN1 interacts with STAT2 to promote tumor
            progression and lipid synthesis via upregulating ACC1 expression in
            colorectal cancer.
REFERENCE   3  (residues 1 to 2346)
  AUTHORS   Jin JH, Zhao BS and Liu YZ.
  TITLE     [Research on the mechanism of hypoxia promoting the migration of
            lung adenocarcinoma A549 cells]
  JOURNAL   Zhongguo Ying Yong Sheng Li Xue Za Zhi 38 (1), 68-74 (2022)
   PUBMED   35634673
  REMARK    GeneRIF: [Research on the mechanism of hypoxia promoting the
            migration of lung adenocarcinoma A549 cells].
REFERENCE   4  (residues 1 to 2346)
  AUTHORS   Calle RA, Amin NB, Carvajal-Gonzalez S, Ross TT, Bergman A,
            Aggarwal S, Crowley C, Rinaldi A, Mancuso J, Aggarwal N, Somayaji
            V, Inglot M, Tuthill TA, Kou K, Boucher M, Tesz G, Dullea R, Bence
            KK, Kim AM, Pfefferkorn JA and Esler WP.
  TITLE     ACC inhibitor alone or co-administered with a DGAT2 inhibitor in
            patients with non-alcoholic fatty liver disease: two parallel,
            placebo-controlled, randomized phase 2a trials
  JOURNAL   Nat Med 27 (10), 1836-1848 (2021)
   PUBMED   34635855
  REMARK    GeneRIF: ACC inhibitor alone or co-administered with a DGAT2
            inhibitor in patients with non-alcoholic fatty liver disease: two
            parallel, placebo-controlled, randomized phase 2a trials.
REFERENCE   5  (residues 1 to 2346)
  AUTHORS   Jhu JW, Yan JB, Lin ZH, Lin SC and Peng IC.
  TITLE     SREBP1-Induced Glutamine Synthetase Triggers a Feedforward Loop to
            Upregulate SREBP1 through Sp1 O-GlcNAcylation and Augments Lipid
            Droplet Formation in Cancer Cells
  JOURNAL   Int J Mol Sci 22 (18), 9814 (2021)
   PUBMED   34575972
  REMARK    GeneRIF: SREBP1-Induced Glutamine Synthetase Triggers a Feedforward
            Loop to Upregulate SREBP1 through Sp1 O-GlcNAcylation and Augments
            Lipid Droplet Formation in Cancer Cells.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 2346)
  AUTHORS   Abu-Elheiga L, Jayakumar A, Baldini A, Chirala SS and Wakil SJ.
  TITLE     Human acetyl-CoA carboxylase: characterization, molecular cloning,
            and evidence for two isoforms
  JOURNAL   Proc Natl Acad Sci U S A 92 (9), 4011-4015 (1995)
   PUBMED   7732023
REFERENCE   7  (residues 1 to 2346)
  AUTHORS   Ha J, Daniel S, Kong IS, Park CK, Tae HJ and Kim KH.
  TITLE     Cloning of human acetyl-CoA carboxylase cDNA
  JOURNAL   Eur J Biochem 219 (1-2), 297-306 (1994)
   PUBMED   7905825
REFERENCE   8  (residues 1 to 2346)
  AUTHORS   Haystead TA, Campbell DG and Hardie DG.
  TITLE     Analysis of sites phosphorylated on acetyl-CoA carboxylase in
            response to insulin in isolated adipocytes. Comparison with sites
            phosphorylated by casein kinase-2 and the calmodulin-dependent
            multiprotein kinase
  JOURNAL   Eur J Biochem 175 (2), 347-354 (1988)
   PUBMED   2900140
REFERENCE   9  (residues 1 to 2346)
  AUTHORS   Munday MR, Campbell DG, Carling D and Hardie DG.
  TITLE     Identification by amino acid sequencing of three major regulatory
            phosphorylation sites on rat acetyl-CoA carboxylase
  JOURNAL   Eur J Biochem 175 (2), 331-338 (1988)
   PUBMED   2900138
REFERENCE   10 (residues 1 to 2346)
  AUTHORS   Milatovich A, Plattner R, Heerema NA, Palmer CG, Lopez-Casillas F
            and Kim KH.
  TITLE     Localization of the gene for acetyl-CoA carboxylase to human
            chromosome 17
  JOURNAL   Cytogenet Cell Genet 48 (3), 190-192 (1988)
   PUBMED   2906852
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC243654.3, CF454424.1,
            AY315623.1, AB371587.1 and BC041598.1.
            
            Summary: Acetyl-CoA carboxylase (ACC) is a complex multifunctional
            enzyme system. ACC is a biotin-containing enzyme which catalyzes
            the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting
            step in fatty acid synthesis. There are two ACC forms, alpha and
            beta, encoded by two different genes. ACC-alpha is highly enriched
            in lipogenic tissues. The enzyme is under long term control at the
            transcriptional and translational levels and under short term
            regulation by the phosphorylation/dephosphorylation of targeted
            serine residues and by allosteric transformation by citrate or
            palmitoyl-CoA. Multiple alternatively spliced transcript variants
            divergent in the 5' sequence and encoding distinct isoforms have
            been found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) is the longest transcript,
            which has several additional exons in the 5' region, as compared to
            variant 1. It uses a downstream start codon and the resulting
            isoform (2) has a shorter N-terminus, as compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AY237919.1, AY315627.1 [ECO:0000331]
            RNAseq introns       :: partial sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2346
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     Protein         1..2346
                     /product="acetyl-CoA carboxylase 1 isoform 2"
                     /EC_number="6.4.1.2"
                     /note="acetyl-Coenzyme A carboxylase alpha; acetyl-CoA
                     carboxylase 1; ACC-alpha"
                     /calculated_mol_wt=265424
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.9,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (Q13085.2)"
     Site            5
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q13085.2)"
     Site            23
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (Q13085.2)"
     Site            25
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            29
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q13085.2)"
     Site            34
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P11497; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            48
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            50
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P11497; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            53
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            58
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q5SWU9; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            78
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P11497; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            80
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:29899443, ECO:0000269|Ref.9,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q13085.2)"
     Region          118..620
                     /region_name="AccC"
                     /note="Biotin carboxylase [Lipid transport and
                     metabolism]; COG0439"
                     /db_xref="CDD:223516"
     Site            488
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            610
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Region          671..818
                     /region_name="AccB"
                     /note="Biotin carboxyl carrier protein [Coenzyme transport
                     and metabolism, Lipid transport and metabolism]; COG0511"
                     /db_xref="CDD:223585"
     Region          753..818
                     /region_name="Biotin_lipoyl"
                     /note="Biotin-requiring enzyme; pfam00364"
                     /db_xref="CDD:395290"
     Site            order(776,785..787,794)
                     /site_type="active"
                     /note="carboxyltransferase (CT) interaction site [active]"
                     /db_xref="CDD:133459"
     Site            786
                     /site_type="other"
                     /note="biotinylation site [posttranslational
                     modification]"
                     /db_xref="CDD:133459"
     Region          820..1569
                     /region_name="ACC_central"
                     /note="Acetyl-CoA carboxylase, central region; pfam08326"
                     /db_xref="CDD:429920"
     Site            835
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            1201
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P11497; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            1216
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P11497; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            1218
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5SWU9; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            1227
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q5SWU9; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            1259
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5SWU9; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            1263
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16698035,
                     ECO:0000269|PubMed:29899443; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            1273
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Site            1334
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     Region          1576..2234
                     /region_name="Carboxyltransferase.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13085.2)"
     Region          1669..2217
                     /region_name="Carboxyl_trans"
                     /note="Carboxyl transferase domain; pfam01039"
                     /db_xref="CDD:426008"
     Site            2153
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13085.2)"
     CDS             1..2346
                     /gene="ACACA"
                     /gene_synonym="ACAC; Acac1; ACACAD; ACACalpha; ACC; ACC1;
                     ACCA; ACCalpha; hACC1"
                     /coded_by="NM_198839.3:1323..8363"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS11317.1"
                     /db_xref="GeneID:31"
                     /db_xref="HGNC:HGNC:84"
                     /db_xref="MIM:200350"
ORIGIN      
        1 mdepsplaqp lelnqhsrfi igsvsednse deisnlvkld lleekegsls pasvgsdtls
       61 dlgisslqdg lalhirssms glhlvkqgrd rkkidsqrdf tvaspaefvt rfggnkviek
      121 vlianngiaa vkcmrsirrw syemfrnera irfvvmvtpe dlkanaeyik madhyvpvpg
      181 gpnnnnyanv elildiakri pvqavwagwg hasenpklpe lllkngiafm gppsqamwal
      241 gdkiassiva qtagiptlpw sgsglrvdwq endfskriln vpqelyekgy vkdvddglqa
      301 aeevgypvmi kaseggggkg irkvnnaddf pnlfrqvqae vpgspifvmr lakqsrhlev
      361 qiladqygna islfgrdcsv qrrhqkiiee apatiatpav fehmeqcavk lakmvgyvsa
      421 gtveylysqd gsfyflelnp rlqvehpcte mvadvnlpaa qlqiamgipl yrikdirmmy
      481 gvspwgdspi dfedsahvpc prghviaari tsenpdegfk pssgtvqeln frsnknvwgy
      541 fsvaaagglh efadsqfghc fswgenreea isnmvvalke lsirgdfrtt veylikllet
      601 esfqmnridt gwldrliaek vqaerpdtml gvvcgalhva dvslrnsvsn flhslergqv
      661 lpahtllntv dveliyegvk yvlkvtrqsp nsyvvimngs cvevdvhrls dgglllsydg
      721 ssyttymkee vdryritign ktcvfekend psvmrspsag kliqyivedg ghvfagqcya
      781 eievmkmvmt ltavesgcih yvkrpgaald pgcvlakmql dnpskvqqae lhtgslpriq
      841 stalrgeklh rvfhyvldnl vnvmngyclp dpffsskvkd wverlmktlr dpslpllelq
      901 dimtsvsgri ppnveksikk emaqyasnit svlcqfpsqq ianildshaa tlnrkserev
      961 ffmntqsivq lvqryrsgir ghmkavvmdl lrqylrvetq fqnghydkcv falreenksd
     1021 mntvlnyifs haqvtkknll vtmlidqlcg rdptltdell nilteltqls kttnakvalr
     1081 arqvliashl psyelrhnqv esiflsaidm yghqfcienl qklilsetsi fdvlpnffyh
     1141 snqvvrmaal evyvrrayia yelnsvqhrq lkdntcvvef qfmlptshpn rgniptlnrm
     1201 sfssnlnhyg mthvasvsdv lldnsftppc qrmggmvsfr tfedfvrifd evmgcfsdsp
     1261 pqsptfpeag htslydedkv prdepihiln vaiktdcdie ddrlaamfre ftqqnkatlv
     1321 dhgirrltfl vaqkdfrkqv nyevdrrfhr efpkfftfra rdkfeedriy rhlepalafq
     1381 lelnrmrnfd ltaipcanhk mhlylgaakv evgtevtdyr ffvraiirhs dlvtkeasfe
     1441 ylqnegerll leamdeleva fnntnvrtdc nhiflnfvpt vimdpskiee svrsmvmryg
     1501 srlwklrvlq aelkinirlt ptgkaipirl fltnesgyyl dislykevtd srtaqimfqa
     1561 ygdkqgplhg mlintpyvtk dllqskrfqa qslgttyiyd ipemfrqsli klwesmstqa
     1621 flpspplpsd mltytelvld dqgqlvhmnr lpggneigmv awkmtfkspe ypegrdiivi
     1681 gndityrigs fgpqedllfl raselaraeg ipriyvsans gariglaeei rhmfhvawvd
     1741 pedpykgyry lyltpqdykr vsalnsvhce hvedegesry kitdiigkee gigpenlrgs
     1801 gmiagessla yneiitislv tcraigigay lvrlgqrtiq venshliltg agalnkvlgr
     1861 evytsnnqlg giqimhnngv thctvcddfe gvftvlhwls ympksvhssv pllnskdpid
     1921 riiefvptkt pydprwmlag rphptqkgqw lsgffdygsf seimqpwaqt vvvgrarlgg
     1981 ipvgvvavet rtvelsipad panldseaki iqqagqvwfp dsafktyqai kdfnreglpl
     2041 mvfanwrgfs ggmkdmydqv lkfgayivdg lreccqpvlv yippqaelrg gswvvidssi
     2101 nprhmemyad resrgsvlep egtveikfrr kdlvktmrrv dpvyihlaer lgtpelstae
     2161 rkelenklke reeflipiyh qvavqfadlh dtpgrmqekg visdildwkt srtffywrlr
     2221 rllledlvkk kihnanpelt dgqiqamlrr wfvevegtvk ayvwdnnkdl aewlekqlte
     2281 edgvhsviee nikcisrdyv lkqirslvqa npevamdsii hmtqhisptq raevirilst
     2341 mdspst
//
LOCUS       NP_001257334             129 aa            linear   PRI 20-MAR-2023
DEFINITION  potassium voltage-gated channel subfamily E member 1 [Homo
            sapiens].
ACCESSION   NP_001257334
VERSION     NP_001257334.1
DBSOURCE    REFSEQ: accession NM_001270405.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 129)
  AUTHORS   Renkhold L, Kollmann R, Inderwiedenstrasse L and Kienitz MC.
  TITLE     PKC-isoform specific regulation of receptor desensitization and
            KCNQ1/KCNE1 K+ channel activity by mutant alpha1B-adrenergic
            receptors
  JOURNAL   Cell Signal 91, 110228 (2022)
   PUBMED   34958868
  REMARK    GeneRIF: PKC-isoform specific regulation of receptor
            desensitization and KCNQ1/KCNE1 K(+) channel activity by mutant
            alpha1B-adrenergic receptors.
REFERENCE   2  (residues 1 to 129)
  AUTHORS   Bhatt IS, Dias R and Torkamani A.
  TITLE     Association Analysis of Candidate Gene Polymorphisms and Tinnitus
            in Young Musicians
  JOURNAL   Otol Neurotol 42 (9), e1203-e1212 (2021)
   PUBMED   34282101
  REMARK    GeneRIF: Association Analysis of Candidate Gene Polymorphisms and
            Tinnitus in Young Musicians.
REFERENCE   3  (residues 1 to 129)
  AUTHORS   Wu X, Perez ME, Noskov SY and Larsson HP.
  TITLE     A general mechanism of KCNE1 modulation of KCNQ1 channels involving
            non-canonical VSD-PD coupling
  JOURNAL   Commun Biol 4 (1), 887 (2021)
   PUBMED   34285340
  REMARK    GeneRIF: A general mechanism of KCNE1 modulation of KCNQ1 channels
            involving non-canonical VSD-PD coupling.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 129)
  AUTHORS   Timasheva Y, Badykov M, Akhmadishina L, Nasibullin T, Badykova E,
            Pushkareva A, Plechev V, Sagitov I and Zagidullin N.
  TITLE     Genetic predictors of sick sinus syndrome
  JOURNAL   Mol Biol Rep 48 (6), 5355-5362 (2021)
   PUBMED   34195885
  REMARK    GeneRIF: Genetic predictors of sick sinus syndrome.
REFERENCE   5  (residues 1 to 129)
  AUTHORS   Malo MS, Srivastava K and Ingram VM.
  TITLE     Gene assignment by polymerase chain reaction: localization of the
            human potassium channel IsK gene to the Down's syndrome region of
            chromosome 21q22.1-q22.2
  JOURNAL   Gene 159 (2), 273-275 (1995)
   PUBMED   7622063
REFERENCE   6  (residues 1 to 129)
  AUTHORS   Lai LP, Deng CL, Moss AJ, Kass RS and Liang CS.
  TITLE     Polymorphism of the gene encoding a human minimal potassium ion
            channel (minK)
  JOURNAL   Gene 151 (1-2), 339-340 (1994)
   PUBMED   7828904
REFERENCE   7  (residues 1 to 129)
  AUTHORS   Chevillard C, Attali B, Lesage F, Fontes M, Barhanin J, Lazdunski M
            and Mattei MG.
  TITLE     Localization of a potassium channel gene (KCNE1) to 21q22.1-q22.2
            by in situ hybridization and somatic cell hybridization
  JOURNAL   Genomics 15 (1), 243-245 (1993)
   PUBMED   8432548
REFERENCE   8  (residues 1 to 129)
  AUTHORS   Tranebjaerg,L., Samson,R.A. and Green,G.E.
  TITLE     Jervell and Lange-Nielsen Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301579
REFERENCE   9  (residues 1 to 129)
  AUTHORS   Alders,M., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301308
REFERENCE   10 (residues 1 to 129)
  AUTHORS   Murai T, Kakizuka A, Takumi T, Ohkubo H and Nakanishi S.
  TITLE     Molecular cloning and sequence analysis of human genomic DNA
            encoding a novel membrane protein which exhibits a slowly
            activating potassium channel activity
  JOURNAL   Biochem Biophys Res Commun 161 (1), 176-181 (1989)
   PUBMED   2730656
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA806205.1, AP000324.1,
            KC877871.1 and AI720140.1.
            
            Summary: The product of this gene belongs to the potassium channel
            KCNE family. Potassium ion channels are essential to many cellular
            functions and show a high degree of diversity, varying in their
            electrophysiologic and pharmacologic properties. This gene encodes
            a transmembrane protein known to associate with the product of the
            KVLQT1 gene to form the delayed rectifier potassium channel.
            Mutation in this gene are associated with both Jervell and
            Lange-Nielsen and Romano-Ward forms of long-QT syndrome.
            Alternatively spliced transcript variants encoding the same protein
            have been identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (8) differs in the 5' UTR,
            compared to variant 2. All variants encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA806205.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968968,
                                           SAMEA1970526 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..129
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.12"
     Protein         1..129
                     /product="potassium voltage-gated channel subfamily E
                     member 1"
                     /note="cardiac delayed rectifier potassium channel
                     protein; potassium channel, voltage gated subfamily E
                     regulatory beta subunit 1; delayed rectifier potassium
                     channel subunit IsK; potassium voltage-gated channel,
                     Isk-related family, member 1; IKs producing slow
                     voltage-gated potassium channel subunit beta Mink; minimal
                     potassium channel; potassium voltage-gated channel,
                     Isk-related subfamily, member 1; Long QT syndrome 5;
                     voltage gated potassiun channel accessory subunit"
                     /calculated_mol_wt=14544
     Region          1..126
                     /region_name="ISK_Channel"
                     /note="Slow voltage-gated potassium channel; pfam02060"
                     /db_xref="CDD:426583"
     Site            5
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21669976,
                     ECO:0000269|PubMed:21676880; propagated from
                     UniProtKB/Swiss-Prot (P15382.1)"
     Site            7
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:21669976; propagated from
                     UniProtKB/Swiss-Prot (P15382.1)"
     Site            19
                     /site_type="other"
                     /note="Interacts with the scolopendra toxin SSD609.
                     /evidence=ECO:0000269|PubMed:26307551; propagated from
                     UniProtKB/Swiss-Prot (P15382.1)"
     Site            26
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21676880; propagated from
                     UniProtKB/Swiss-Prot (P15382.1)"
     Site            44..66
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P15382.1)"
     Site            102
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKC. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P15382.1)"
     Region          109..129
                     /region_name="interaction with KCNQ1 C-terminus.
                     /evidence=ECO:0000269|PubMed:25037568"
                     /note="propagated from UniProtKB/Swiss-Prot (P15382.1)"
     CDS             1..129
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /coded_by="NM_001270405.3:202..591"
                     /db_xref="CCDS:CCDS13636.1"
                     /db_xref="GeneID:3753"
                     /db_xref="HGNC:HGNC:6240"
                     /db_xref="MIM:176261"
ORIGIN      
        1 milsnttavt pfltklwqet vqqggnmsgl arrsprssdg klealyvlmv lgffgfftlg
       61 imlsyirskk lehsndpfnv yiesdawqek dkayvqarvl esyrscyvve nhlaieqpnt
      121 hlpetkpsp
//
LOCUS       NP_001317911             903 aa            linear   PRI 20-MAR-2023
DEFINITION  LIM and calponin homology domains-containing protein 1 isoform s
            [Homo sapiens].
ACCESSION   NP_001317911 XP_016863394
VERSION     NP_001317911.1
DBSOURCE    REFSEQ: accession NM_001330982.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 903)
  AUTHORS   Alifanov VV, Tashireva LA, Zavyalova MV and Perelmuter VM.
  TITLE     LIMCH1 as a New Potential Metastasis Predictor in Breast Cancer
  JOURNAL   Asian Pac J Cancer Prev 23 (11), 3947-3952 (2022)
   PUBMED   36444609
  REMARK    GeneRIF: LIMCH1 as a New Potential Metastasis Predictor in Breast
            Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 903)
  AUTHORS   Halle MK, Sodal M, Forsse D, Engerud H, Woie K, Lura NG,
            Wagner-Larsen KS, Trovik J, Bertelsen BI, Haldorsen IS, Ojesina AI
            and Krakstad C.
  TITLE     A 10-gene prognostic signature points to LIMCH1 and HLA-DQB1 as
            important players in aggressive cervical cancer disease
  JOURNAL   Br J Cancer 124 (10), 1690-1698 (2021)
   PUBMED   33723390
  REMARK    GeneRIF: A 10-gene prognostic signature points to LIMCH1 and
            HLA-DQB1 as important players in aggressive cervical cancer
            disease.
REFERENCE   3  (residues 1 to 903)
  AUTHORS   Bersini S, Lytle NK, Schulte R, Huang L, Wahl GM and Hetzer MW.
  TITLE     Nup93 regulates breast tumor growth by modulating cell
            proliferation and actin cytoskeleton remodeling
  JOURNAL   Life Sci Alliance 3 (1), e201900623 (2020)
   PUBMED   31959624
  REMARK    GeneRIF: Nup93 regulates breast tumor growth by modulating cell
            proliferation and actin cytoskeleton remodeling.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 903)
  AUTHORS   Zhang Y, Zhang Y and Xu H.
  TITLE     LIMCH1 suppress the growth of lung cancer by interacting with HUWE1
            to sustain p53 stability
  JOURNAL   Gene 712, 143963 (2019)
   PUBMED   31279706
  REMARK    GeneRIF: LIMCH1 is a negative regulator involved in a new molecular
            mechanism for the pathogenesis of lung cancer with HUWE1 and p53
REFERENCE   5  (residues 1 to 903)
  AUTHORS   Karlsson T, Kvarnbrink S, Holmlund C, Botling J, Micke P,
            Henriksson R, Johansson M and Hedman H.
  TITLE     LMO7 and LIMCH1 interact with LRIG proteins in lung cancer, with
            prognostic implications for early-stage disease
  JOURNAL   Lung Cancer 125, 174-184 (2018)
   PUBMED   30429017
  REMARK    GeneRIF: LMO7 and LIMCH1 co-localized and co-immunoprecipitated.
REFERENCE   6  (residues 1 to 903)
  AUTHORS   Lin YH, Zhen YY, Chien KY, Lee IC, Lin WC, Chen MY and Pai LM.
  TITLE     LIMCH1 regulates nonmuscle myosin-II activity and suppresses cell
            migration
  JOURNAL   Mol Biol Cell 28 (8), 1054-1065 (2017)
   PUBMED   28228547
  REMARK    GeneRIF: Data suggest that LIMCH1 plays a positive role in
            regulation of NM-II activity through effects on MRLC during cell
            migration.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC108050.5, AC124009.4 and AC105389.3.
            On Sep 3, 2016 this sequence version replaced XP_016863394.1.
            
            Transcript Variant: This variant (19) represents use of an
            alternate promoter compared to variant 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.21036.1,
                                           SRR14038196.2518341.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..903
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p13"
     Protein         1..903
                     /product="LIM and calponin homology domains-containing
                     protein 1 isoform s"
                     /note="LIM and calponin homology domains-containing
                     protein 1"
                     /calculated_mol_wt=102020
     Region          96..264
                     /region_name="DUF4757"
                     /note="Domain of unknown function (DUF4757); pfam15949"
                     /db_xref="CDD:435034"
     Region          <617..654
                     /region_name="GBP_C"
                     /note="Guanylate-binding protein, C-terminal domain;
                     cl20817"
                     /db_xref="CDD:450829"
     Region          833..890
                     /region_name="LIM"
                     /note="Zinc-binding domain present in Lin-11, Isl-1,
                     Mec-3; smart00132"
                     /db_xref="CDD:214528"
     Site            order(833,836,856,859,862,865,887,890)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:259829"
     CDS             1..903
                     /gene="LIMCH1"
                     /gene_synonym="LIMCH1A; LMO7B"
                     /coded_by="NM_001330982.2:174..2885"
                     /note="isoform s is encoded by transcript variant 19"
                     /db_xref="GeneID:22998"
                     /db_xref="HGNC:HGNC:29191"
                     /db_xref="MIM:617750"
ORIGIN      
        1 mdserqvkdt ddiespkrsi rdsgyidcwd sersdslspp rhgrddsfds ldsfgsrsrq
       61 tpspdvvlrg ssdgrgsdse sdlphrklpd vkkddmsarr tshgepksav pfnqylpnks
      121 nqtayvpapl rkkkaereey rkswstatsp lggerpfryg prtpvsddae stsmfdmrce
      181 eeaavqphsr arqeqlqlin nqlreeddkw qddlarwksr rrsvsqdlik keeerkkmek
      241 llagedgtse rrksiktyre ivqekerrer elheayknar sqeeaegilq qyierftise
      301 avlerlempk ilershstep nlssflndpn pmkylrqqsl pppkftatve ttiarasvld
      361 tsmsagsgsp sktvtpkavp mltpkpysqp knsqdvlktf kvdgkvsvng etvhreeeke
      421 recptvapah sltksqmfeg varvhgsple lkqdngsiei nikkpnsvpq elaattekte
      481 pnsqedkndg gksrkgniel assepqhftt tvtrcsptva fvefpsspql kndvseekdq
      541 kkpenemsgk velvlsqkvv kpkspepeat ltfpfldkmp eanqlhlpnl nsqvdspsse
      601 kspvmtpqfk fwawdpeeer rrqekwqqeq erllqeryqk eqdklkeewe kaqkeveeee
      661 rryyeeerki iedtvvpftv ssssadqlst sssmtegsgt mnkidlgncq dekqdrrwkk
      721 sfqgddsdll lktresdrle ekgsltegal ahsgnpvskg vhedhqldte agaphcgtnp
      781 qlaqdpsqnq qtsnpthsse dvkpktlpld ksinhqiesp serrksisgk klcsscglpl
      841 gkgaamiiet lnlyfhiqcf rcgickgqlg davsgtdvri rngllncndc ymrsrsagqp
      901 ttl
//
LOCUS       XP_047274227             204 aa            linear   PRI 20-MAR-2023
DEFINITION  secretory carrier-associated membrane protein 3 isoform X5 [Homo
            sapiens].
ACCESSION   XP_047274227
VERSION     XP_047274227.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418271.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..204
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..204
                     /product="secretory carrier-associated membrane protein 3
                     isoform X5"
                     /calculated_mol_wt=22788
     Region          132..>179
                     /region_name="SCAMP"
                     /note="SCAMP family; pfam04144"
                     /db_xref="CDD:427742"
     CDS             1..204
                     /gene="SCAMP3"
                     /gene_synonym="C1orf3"
                     /coded_by="XM_047418271.1:210..824"
                     /db_xref="GeneID:10067"
                     /db_xref="HGNC:HGNC:10565"
                     /db_xref="MIM:606913"
ORIGIN      
        1 maqsrdggnp faepseldnp fqdpaviqhr psrqyatldv ynpfetrepp payeppapap
       61 lpppsapslq psrklsptep knygsystqa saaaataell kkqeelnrka eeldrrerel
      121 qhaalggtat rqnnwpplps fcpvqpcffq dismeipqef qktvstmyyl wmlagsllww
      181 crratqqypc sccwspcssl allc
//
LOCUS       XP_047283022             474 aa            linear   PRI 20-MAR-2023
DEFINITION  vasculin-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047283022
VERSION     XP_047283022.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427066.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..474
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..474
                     /product="vasculin-like protein 1 isoform X1"
                     /calculated_mol_wt=52171
     Region          378..471
                     /region_name="Vasculin"
                     /note="Vascular protein family Vasculin-like 1; pfam15337"
                     /db_xref="CDD:434646"
     CDS             1..474
                     /gene="GPBP1L1"
                     /gene_synonym="SP192"
                     /coded_by="XM_047427066.1:1135..2559"
                     /db_xref="GeneID:60313"
                     /db_xref="HGNC:HGNC:28843"
ORIGIN      
        1 maqhdfvpaw lnfstpqsak sptatfekhg ehlprgegrf gvsrrrhnss dgffnngplr
       61 tagdswhqps lfrhdsvdsg vskgayagit gnpsgwhsss rghdgmsqrs gggtgnhrhw
      121 ngsfhsrkgc afqekppmei reekkedkve klqfeeedfp slnpeagkqh qpcrpigtps
      181 gvwenppsak qpskmlvikk vskedpaaaf saaftspgsh hangnklssv vpsvyknlvp
      241 kpvpppskpn awkanrmehk sgslsssres aftspisvtk pvvlasgaal sspkespsst
      301 tppieisssr ltkltrrttd rkseflktlk ddrngdfsen rdcdkledle dnstpepken
      361 geegchqngl alpvveegev lshsleaehr llkamgwqey pendenclpl tedelkefhm
      421 kteqlrrngf gkngflqsrs sslfspwrst ckaefedsdt etsssetsdd dawk
//
LOCUS       XP_047284008             194 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 85 kDa isoform X4 [Homo sapiens].
ACCESSION   XP_047284008
VERSION     XP_047284008.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428052.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..194
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..194
                     /product="centrosomal protein of 85 kDa isoform X4"
                     /calculated_mol_wt=22111
     CDS             1..194
                     /gene="CEP85"
                     /gene_synonym="CCDC21"
                     /coded_by="XM_047428052.1:845..1429"
                     /db_xref="GeneID:64793"
                     /db_xref="HGNC:HGNC:25309"
                     /db_xref="MIM:618898"
ORIGIN      
        1 meswqkryds lqkivekqqq kmdqlrsqvq sleqevaqee gtsqalreea qrrdsalqql
       61 rtavkelsvq nqdlieknlt lqehlrqaqp gsppspdtaq lalelhqela sclqdlqavc
      121 sivtqraqgh dpnlslllgi hsaqhpetql dlqkpdvikr kleevqqlrr diedlrttms
      181 dryaqdmgen cvtq
//
LOCUS       XP_005252703             451 aa            linear   PRI 20-MAR-2023
DEFINITION  sperm-associated antigen 6 isoform X1 [Homo sapiens].
ACCESSION   XP_005252703
VERSION     XP_005252703.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005252646.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..451
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..451
                     /product="sperm-associated antigen 6 isoform X1"
                     /calculated_mol_wt=48860
     Region          14..>365
                     /region_name="SRP1"
                     /note="Karyopherin (importin) alpha [Intracellular
                     trafficking and secretion]; COG5064"
                     /db_xref="CDD:227396"
     Region          37..68
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          78..110
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          120..152
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          160..196
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          231..262
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Site            order(253,257,261,296,300,304,340,344,348)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          270..307
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          313..349
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     CDS             1..451
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /coded_by="XM_005252646.3:117..1472"
                     /db_xref="GeneID:9576"
                     /db_xref="HGNC:HGNC:11215"
                     /db_xref="MIM:605730"
ORIGIN      
        1 msqrqvlqvf eqyqkartqf vqmvaelatr pqnietlqna gvmsllrtll ldvvptiqqt
       61 aalalgrlan ynddlaeavv kcdilpqlvy slaeqnrfyk kaaafvlrav gkhspqlaqa
      121 ivdcgaldtl vicledfdpg vkeaaawalr yiarhnaels qavvdagavp llvlciqepe
      181 ialkriaasa lsdiakhspe laqtvvdaga vahlaqmiln pdaklklsql vvnaggvaav
      241 idcigsckgn trlpgimmlg yvaahsenla maviiskgvp qlsvclseep edhikaaaaw
      301 algqigrhtp eharavavtn tlpvllslym stessedlqv kskkaiknil qkctylpale
      361 pflydappni lkhvvgqfsk vlphdskarr lfvtsgglkk vqeikaepgs llqeyinsin
      421 scypeeivry yspgysdtll qrvdsyqpln n
//
LOCUS       XP_005271469             295 aa            linear   PRI 20-MAR-2023
DEFINITION  protein MFI isoform X5 [Homo sapiens].
ACCESSION   XP_005271469
VERSION     XP_005271469.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005271412.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..295
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..295
                     /product="protein MFI isoform X5"
                     /calculated_mol_wt=34741
     Region          9..245
                     /region_name="C11orf65"
                     /note="chromosome 11 open reading frame 65 and homologs;
                     cd21090"
                     /db_xref="CDD:411042"
     CDS             1..295
                     /gene="C11orf65"
                     /gene_synonym="MFI"
                     /coded_by="XM_005271412.4:69..956"
                     /db_xref="GeneID:160140"
                     /db_xref="HGNC:HGNC:28519"
ORIGIN      
        1 mpwkeeseft kqdkaarviq qawksflnva ifqhfkslid lrrqgeprqi vkyinpkevk
       61 fppdiyykif thrpiedlca nsprnyaklp akhtshnknd hlqeedhsgw yhrienngwr
      121 pvsdtfwlst dgmvvedkke sefhfsklkr rqdlekkrkl rkiewmrqmy ysgsleakst
      181 hhetlgliht atkglirafe dggidsvmew evdevlnwtn tlnfdeyias wkeiatsnss
      241 anfkgfrfnq aqkniynygg diskmqmgip ddtyyenvyq epnvtrltpd stygl
//
LOCUS       XP_047284994             568 aa            linear   PRI 20-MAR-2023
DEFINITION  POU domain, class 6, transcription factor 1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047284994
VERSION     XP_047284994.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429038.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..568
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..568
                     /product="POU domain, class 6, transcription factor 1
                     isoform X4"
                     /calculated_mol_wt=58773
     Region          <41..364
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          406..480
                     /region_name="POU"
                     /note="Found in Pit-Oct-Unc transcription factors;
                     smart00352"
                     /db_xref="CDD:197673"
     Site            order(502..506,508,525,531,544,546..547,550..551,553..555,
                     557..558)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          504..557
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     Site            order(504,507,547,550..551,554)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     CDS             1..568
                     /gene="POU6F1"
                     /gene_synonym="BRN5; MPOU; TCFB1"
                     /coded_by="XM_047429038.1:3780..5486"
                     /db_xref="GeneID:5463"
                     /db_xref="HGNC:HGNC:9224"
                     /db_xref="MIM:618043"
ORIGIN      
        1 mdpgagsets ltvneqvivm sghetirvle vgvdaqlpae eeskglegva aegsqsgdpa
       61 easqaageag pdnlgssaea tvksppgipp spataiatfs qapsqpqasq tltplavqaa
      121 pqvltqenla tvltgvmvpa gavtqpllip isiagqvagq qglavwtipt atvaalpglt
      181 aasptggvfk pplaglqaaa vlntalpapv qaaapvqass taqprppaqp qtlfqtqpll
      241 qttpailpqp taataaaptp kpvdtppqit vqpagfafsp givigtlpwv vnsasvaapa
      301 paqslqvqav tpqlllnaqg qviatlassp lpppvavrkp stpespakse vqpiqptptv
      361 pqpavviasp apaakpsasa pipitcsetp tvsqlvskph tpsldedgin leeirefakn
      421 fkirrlslgl tqtqvgqalt ategpaysqs aicrfekldi tpksaqklkp vlekwlneae
      481 lrnqegqqnl mefvggepsk krkrrtsftp qaiealnayf eknplptgqe iteiakelny
      541 drevvrvwfc nrrqtlknts klnvfqip
//
LOCUS       XP_006719934             375 aa            linear   PRI 20-MAR-2023
DEFINITION  cytidine and dCMP deaminase domain-containing protein 1 isoform X3
            [Homo sapiens].
ACCESSION   XP_006719934
VERSION     XP_006719934.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006719871.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..375
                     /product="cytidine and dCMP deaminase domain-containing
                     protein 1 isoform X3"
                     /calculated_mol_wt=42884
     Region          180..315
                     /region_name="deoxycytidylate_deaminase"
                     /note="Deoxycytidylate deaminase domain. Deoxycytidylate
                     deaminase catalyzes the deamination of dCMP to dUMP,
                     providing the nucleotide substrate for thymidylate
                     synthase. The enzyme binds Zn++, which is required for
                     catalytic activity. The activity of the...; cd01286"
                     /db_xref="CDD:238613"
     Site            order(221,259,261,286..287,290)
                     /site_type="active"
                     /note="catalytic motif [active]"
                     /db_xref="CDD:238613"
     Site            order(259,261,287,290)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:238613"
     CDS             1..375
                     /gene="CDADC1"
                     /gene_synonym="bA103J18.1; NYD-SP15"
                     /coded_by="XM_006719871.4:275..1402"
                     /db_xref="GeneID:81602"
                     /db_xref="HGNC:HGNC:20299"
                     /db_xref="MIM:618997"
ORIGIN      
        1 mhgragvnri sywpadpeis llteasssed akldakaver lksnsrahvc vllqplvcym
       61 vqfveetsyk cdfiqkitkt lpdantdfyy eckqerikey emlflvsnee mhkqilmtig
      121 lenlcenpyf snlrqnmkdl illlatvass vpnfkhfgfy rsnpeqinei hnqslpqeia
      181 rhcmvqarll ayrtedhktg vgaviwaegk srscdgtgam yfvgcgynaf pvgseyadfp
      241 hmddkqkdre irkfryiiha eqnaltfrcq eikpeersmi fvtkcpcdec vplikgagik
      301 qiyagdvdvg kkkadisymr fgelegvskf twqlnpsgay gleqneperr engvlrpvpq
      361 keeqhqdkkl rlgih
//
LOCUS       XP_011519762             683 aa            linear   PRI 20-MAR-2023
DEFINITION  protogenin isoform X4 [Homo sapiens].
ACCESSION   XP_011519762
VERSION     XP_011519762.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521460.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..683
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..683
                     /product="protogenin isoform X4"
                     /calculated_mol_wt=75879
     Region          38..130
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          56..60
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          69..73
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          91..95
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          110..115
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          124..127
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          141..223
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          152..156
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          165..169
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          188..192
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          202..207
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          235..307
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          252..256
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          265..269
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          287..291
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          301..306
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          316..319
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          327..412
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          345..348
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          357..361
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          378..382
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          392..397
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          405..408
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          419..512
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(419,485,500)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(501..502,504..505)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          517..610
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(517,583,598)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(599..600,602..603)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          619..>680
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     CDS             1..683
                     /gene="PRTG"
                     /gene_synonym="IGDCC5"
                     /coded_by="XM_011521460.3:222..2273"
                     /db_xref="GeneID:283659"
                     /db_xref="HGNC:HGNC:26373"
                     /db_xref="MIM:613261"
ORIGIN      
        1 mapplrplar lrppgmllra lllllllspl pgvwcfsels fvkepqdvtv trkdpvvldc
       61 qahgevpikv twlkngakms enkrievlsn gslyiseveg rrgeqsdegf yqclamnkyg
      121 ailsqkahla lstisafevq pistevhegg varfackiss hppavitwef nrttlpmtmd
      181 ritalptgvl qiydvsqrds gnyrciaatv ahrrksmeas ltvipakesk sfhtptiiag
      241 pqnittslhq tvvlecmatg npkpiiswsr ldhksidvfn trvlgngnlm isdvrlqhag
      301 vyvcrattpg trnftvamat ltvlappsfv ewpesltrpr agtarfvcqa egipspkmsw
      361 lkngrkihsn grikmynskl vinqiipedd aiyqcmaens qgsilsrarl tvvmsedrps
      421 apynvhaetm sssaillawe rplynsdkvi aysvhymkae glnneeyqvv igndtthyii
      481 ddlepasnyt fyivaympmg asqmsdhvtq ntledvplrp peisltsrsp tdiliswlpi
      541 pakyrrgqvv lyrlsfrlst ensiqvlelp gttheylleg lkpdsvylvr itaatrvglg
      601 essvwtshrt pkatsvkapk spelhlepln cttisvrwqq dvedtaaiqg yklyykeegq
      661 qengpifldt kdllytlsgl ari
//
LOCUS       XP_011520057             264 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of microtubule dynamics protein 3 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011520057
VERSION     XP_011520057.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521755.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..264
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..264
                     /product="regulator of microtubule dynamics protein 3
                     isoform X1"
                     /calculated_mol_wt=29578
     Region          156..206
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          211..240
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..264
                     /gene="RMDN3"
                     /gene_synonym="FAM82A2; FAM82C; ptpip51; RMD-3; RMD3"
                     /coded_by="XM_011521755.3:199..993"
                     /db_xref="GeneID:55177"
                     /db_xref="HGNC:HGNC:25550"
                     /db_xref="MIM:611873"
ORIGIN      
        1 mgrkdsldle eeaasgassa leaggssgle dvlpllqqad elhrgdeqgk regfqlllnn
       61 klvygsrqdf lwrlaraysd mcelteevse kksyaldgke eaeaalekgd esadchlwya
      121 vlcgqlaehe siqrriqsgf sfkehvdkai alqpenpmah fllgrwcyqv shlswlekkt
      181 atallespls atvedalqsf lkaeelqpgf skagrvyisk cyrelgknse arwwmklale
      241 lpdvtkedla iqkdleelev ilrd
//
LOCUS       XP_047289096             402 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-dependent DNA helicase PIF1 isoform X2 [Homo sapiens].
ACCESSION   XP_047289096
VERSION     XP_047289096.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433140.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..402
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..402
                     /product="ATP-dependent DNA helicase PIF1 isoform X2"
                     /calculated_mol_wt=43525
     Region          210..381
                     /region_name="DEXSc_Pif1_like"
                     /note="DEAD-box helicase domain of Pif1; cd18037"
                     /db_xref="CDD:350795"
     Site            order(211,229..236,306,346)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350795"
     CDS             1..402
                     /gene="PIF1"
                     /gene_synonym="C15orf20; PIF"
                     /coded_by="XM_047433140.1:75..1283"
                     /db_xref="GeneID:80119"
                     /db_xref="HGNC:HGNC:26220"
                     /db_xref="MIM:610953"
ORIGIN      
        1 mlsgieaaag eyedselrcr vaveelspgg qprrrqalrt aelslgrner relmlrlqap
       61 gpagrprcfp lraarlftrf aeagrstlrl pahdtpgaga vqlllsdcpp drlrrflrtl
      121 rlklaaapgp gpasaraqll gprprdfvti spvqpeerrl raatrvpdtt lvkrpvepqa
      181 gaepsteapr wplpvkrlsl pstkpqlsee qaavlravlk gqsifftgsa gtgksyllkr
      241 ilgslpptgt vatastgvaa chiggttlha fagigsgqap laqcvalaqr pgvrqgwlnc
      301 qrlvideism veadlfdkle avaravrqqn kpfggiqlii cgdflqlppv tkgsqpprfc
      361 fqskswkrcv pvtleltkvw rqadqtfisl lqavrlgrwa lp
//
LOCUS       XP_047291137             734 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase tousled-like 2 isoform X14 [Homo
            sapiens].
ACCESSION   XP_047291137
VERSION     XP_047291137.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435181.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..734
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..734
                     /product="serine/threonine-protein kinase tousled-like 2
                     isoform X14"
                     /calculated_mol_wt=83589
     Region          417..725
                     /region_name="STKc_TLK2"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Tousled-Like Kinase 2; cd14041"
                     /db_xref="CDD:270943"
     Site            order(430..434,438,451,453,489,506..509,513,515,554,556,
                     558..559,561,575,578,601..604)
                     /site_type="active"
                     /db_xref="CDD:270943"
     Site            order(430..434,438,451,453,489,506..509,513,554,556,
                     558..559,561,575)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270943"
     Site            order(434,513,515,554,556,558,578,601..604)
                     /site_type="other"
                     /note="polypeptide substrate binding site"
                     /db_xref="CDD:270943"
     Site            order(574..580,601..604)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270943"
     CDS             1..734
                     /gene="TLK2"
                     /gene_synonym="HsHPK; MRD57; PKU-ALPHA"
                     /coded_by="XM_047435181.1:35..2239"
                     /db_xref="GeneID:11011"
                     /db_xref="HGNC:HGNC:11842"
                     /db_xref="MIM:608439"
ORIGIN      
        1 mgeaqaapaw dwgrrpeerr gppgswrprq ppgrprepal pssvtaemme elhsldprrq
       61 ellearftgv gvskgplnse ssnqslcsvg slsdkevetp ekkqndqrnr krkaepyets
      121 qgkgtprghk isdyfefagg sapgtspgrs vppvarsspq hslsnplprr veqplygldg
      181 saakeateeq salptlmsvm lakprldteq laqrgaglcf tfvsancdlr rqideqqkml
      241 ekykerlnrc vtmskkllie kskqekmacr dksmqdrlrl ghfttvrhga sfteqwtdgy
      301 afqnlikqqe rinsqreeie rqrkmlakrk ppamgqappa tneqkqrksk tngaenetlt
      361 laeyheqeei fklrlghlkk eeaeiqaele rlervrnlhi relkrihned nsqfkdhptl
      421 ndrylllhll grggfsevyk afdlteqryv avkihqlnkn wrdekkenyh khacreyrih
      481 keldhprivk lydyfsldtd sfctvleyce gndldfylkq hklmsekear siimqivnal
      541 kylneikppi ihydlkpgni llvngtacge ikitdfglsk imdddsynsv dgmeltsqga
      601 gtywylppec fvvgkeppki snkvdvwsvg vifyqclygr kpfghnqsqq dilqentilk
      661 atevqfppkp vvtpeakafi rrclayrked ridvqqlacd pyllphirks vstsspagaa
      721 iastsgasnn sssn
//
LOCUS       XP_047292114             431 aa            linear   PRI 20-MAR-2023
DEFINITION  P2X purinoceptor 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047292114
VERSION     XP_047292114.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436158.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..431
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..431
                     /product="P2X purinoceptor 1 isoform X1"
                     /calculated_mol_wt=47909
     Region          59..400
                     /region_name="P2X_receptor"
                     /note="ATP P2X receptor; cl02993"
                     /db_xref="CDD:445981"
     CDS             1..431
                     /gene="P2RX1"
                     /gene_synonym="P2X1"
                     /coded_by="XM_047436158.1:908..2203"
                     /db_xref="GeneID:5023"
                     /db_xref="HGNC:HGNC:8533"
                     /db_xref="MIM:600845"
ORIGIN      
        1 msgggqrlvl vpgmivpfwa spdlshrags aeseaawdap avwlsreprq awqrlahlwv
       61 flyekgyqts sglissvsvk lkglavtqlp glgpqvwdva dyvfpaqgdn sfvvmtnfiv
      121 tpkqtqgyca ehpeggicke dsgctpgkak rkaqgirtgk cvafndtvkt ceifgwcpve
      181 vdddiprpal lreaenftlf iknsisfprf kvnrrnlvee vnaahmktcl fhktlhplcp
      241 vfqlgyvvqe sgqnfstlae kggvvgitid whcdldwhvr hcrpiyefhg lyeeknlspg
      301 fnfrtpdprq sppspschli psprfarhfv engtnyrhlf kvfgirfdil vdgkagkfdi
      361 iptmttigsg igifgvatvl cdllllhilp krhyykqkkf kyaedmgpga aerdlaatss
      421 tlglqenmrt s
//
LOCUS       XP_047292264             564 aa            linear   PRI 20-MAR-2023
DEFINITION  septin-4 isoform X2 [Homo sapiens].
ACCESSION   XP_047292264
VERSION     XP_047292264.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436308.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..564
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..564
                     /product="septin-4 isoform X2"
                     /calculated_mol_wt=62135
     Region          10..534
                     /region_name="DUF4655"
                     /note="Domain of unknown function (DUF4655); pfam15548"
                     /db_xref="CDD:434779"
     CDS             1..564
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4"
                     /coded_by="XM_047436308.1:143..1837"
                     /db_xref="GeneID:5414"
                     /db_xref="HGNC:HGNC:9165"
                     /db_xref="MIM:603696"
ORIGIN      
        1 mvktnkpgak vavsaqrgse vttntspqqg hgyvlasshr saavslnpsh rrseaahptt
       61 phsasdyprs vslqsgpghy avptprgpet gprtessrhs sphlksqktq tlashassrq
      121 wkvsppreea arrgsesksg revghhassi pdaksthqls fqdqknnlqs qileddppsk
      181 vqnpqgvrvp rrilsypkde avqtepiqri tttseirspr spsllehgss cvsadyqtaq
      241 rrvpveeset gpygpipskp kalyrnmnld sllklsvlkd sdgvhrvsar vdpeslhkys
      301 aypetkpsak vlvssqvesn vrtpirgnse vgrrvtispg vqsvepthhv tvpsvsegsh
      361 kssmfvtpep iykqqtqkpp eitymsqgpt prypelsqkp sihaeleltp rplpprslpr
      421 ygpdsswwpl lnpevetpqs qlttpdfepk cspsldllls gfkidsspfc edlkfqreka
      481 slsppsppke fpswaplsev pqtpkhtckq piqrftaffl dvseemynrv iwwlkdeelp
      541 waansragwk agglwlrlan lgtg
//
LOCUS       XP_047294867             859 aa            linear   PRI 20-MAR-2023
DEFINITION  cAMP-specific 3',5'-cyclic phosphodiesterase 4A isoform X3 [Homo
            sapiens].
ACCESSION   XP_047294867
VERSION     XP_047294867.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438911.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..859
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..859
                     /product="cAMP-specific 3',5'-cyclic phosphodiesterase 4A
                     isoform X3"
                     /calculated_mol_wt=94977
     Region          152..266
                     /region_name="PDE4_UCR"
                     /note="Phosphodiesterase 4 upstream conserved regions
                     (UCR); pfam18100"
                     /db_xref="CDD:436273"
     Region          405..645
                     /region_name="PDEase_I"
                     /note="3'5'-cyclic nucleotide phosphodiesterase;
                     pfam00233"
                     /db_xref="CDD:425542"
     Site            447
                     /site_type="other"
                     /note="Mg2+ binding site [ion binding]"
                     /db_xref="CDD:238032"
     CDS             1..859
                     /gene="PDE4A"
                     /gene_synonym="DPDE2; PDE4; PDE46"
                     /coded_by="XM_047438911.1:1..2580"
                     /db_xref="GeneID:5141"
                     /db_xref="HGNC:HGNC:8780"
                     /db_xref="MIM:600126"
ORIGIN      
        1 marprglgri pelqlvafpv avaaedeafl peplaprapr rprsppsspv ffaspsptfr
       61 rrlrllrscq dlgrqawaga gfeaengptp spgrspldsq aspglvlhag aatsqrresf
      121 lyrsdsdydm spktmsrnss vtseahaedl ivtpfaqvla slrsvrsnfs lltnvpvpsn
      181 krsplggptp vckatlsetc qqlaretlee ldwcleqlet mqtyrsvsem ashkfkrmln
      241 relthlsems rsgnqvseyi sttfldkqne veipsptmke rekqqaprpr psqpppppvp
      301 hlqpmsqitg lkklmhsnsl nnsniprfgv ktdqeellaq elenlnkwgl nifcvsdyag
      361 grsltcimym ifqerdllkk fripvdtmvt ymltledhyh advayhnslh aadvlqsthv
      421 llatpaldav ftdleilaal faaaihdvdh pgvsnqflin tnselalmyn desvlenhhl
      481 avgfkllqed ncdifqnlsk rqrqslrkmv idmvlatdms khmtlladlk tmvetkkvts
      541 sgvllldnys driqvlrnmv hcadlsnptk plelyrqwtd rimaeffqqg drerergmei
      601 spmcdkhtas veksqvgfid yivhplwetw adlvhpdaqe ildtlednrd wyysairqsp
      661 spppeeesrg pghpplpdkf qfeltleeee eeeismaqip ctaqealtaq glsgveeald
      721 atiaweaspa qeslevmaqe asleaeleav yltqqaqstg sapvapdefs sreefvvavs
      781 hsspsalalq spllpawrtl svsehapglp glpstaaeve aqrehqaakr acsacagtfg
      841 edtsalpapg gggsggdpt
//
LOCUS       XP_016859830            4469 aa            linear   PRI 20-MAR-2023
DEFINITION  low-density lipoprotein receptor-related protein 1B isoform X1
            [Homo sapiens].
ACCESSION   XP_016859830
VERSION     XP_016859830.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004341.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4469
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..4469
                     /product="low-density lipoprotein receptor-related protein
                     1B isoform X1"
                     /calculated_mol_wt=501143
     Site            order(25,28,41)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          35..63
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          152..329
                     /region_name="NHL"
                     /note="NHL repeat unit of beta-propeller proteins;
                     cl18310"
                     /db_xref="CDD:302697"
     Region          155..191
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          189..231
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          198..237
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          241..276
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          285..315
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          345..386
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          418..460
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          461..500
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          507..556
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          557..599
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          668..703
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          756..789
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(761,769,780..781)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(773,776,780,786..787)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            783..787
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          796..828
                     /region_name="LDLa"
                     /note="Low-density lipoprotein receptor domain class A;
                     smart00192"
                     /db_xref="CDD:197566"
     Site            order(802,810,821..822)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(814,817,821,827..828)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            824..828
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          876..908
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(881,889,900..901)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(893,896,900,906..907)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            903..907
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          923..958
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(928,937,948..949)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(941,944,948,954..955)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            951..955
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          967..1001
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(971,980,991..992)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(984,987,991,997..998)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            994..998
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          1006..1039
                     /region_name="LDLa"
                     /note="Low-density lipoprotein receptor domain class A;
                     smart00192"
                     /db_xref="CDD:197566"
     Site            order(1011,1021,1032..1033)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(1025,1028,1032,1038..1039)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            1035..1039
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          1046..1082
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          1150..1191
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          1197..1237
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          1241..1284
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          <1296..1328
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          1488..1527
                     /region_name="Ldl_recept_b"
                     /note="Low-density lipoprotein receptor repeat class B;
                     pfam00058"
                     /db_xref="CDD:425445"
     Region          1511..1553
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          1555..1594
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          <1605..1636
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          1708..1744
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          1783..2008
                     /region_name="NHL"
                     /note="NHL repeat unit of beta-propeller proteins;
                     cl18310"
                     /db_xref="CDD:302697"
     Region          1783..1822
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1817..1857
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          1827..1864
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1868..1906
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1878..1918
                     /region_name="Ldl_recept_b"
                     /note="Low-density lipoprotein receptor repeat class B;
                     pfam00058"
                     /db_xref="CDD:425445"
     Region          1903..1945
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          1912..1950
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1959..1998
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          2017..2052
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          2200..2241
                     /region_name="Ldl_recept_b"
                     /note="Low-density lipoprotein receptor repeat class B;
                     pfam00058"
                     /db_xref="CDD:425445"
     Region          2225..2267
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          2338..2372
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          2384..2413
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(2386,2394,2405..2406)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(2398,2401,2405,2411..2412)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            2408..2412
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          2422..2456
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(2427,2435,2446..2447)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(2439,2442,2446,2452..2453)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            2449..2453
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          2461..2495
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(2466,2474,2485..2486)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(2478,2481,2485,2491..2492)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            2488..2492
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          2515..2544
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(2527,2530,2534,2540..2541)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            2537..2541
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          2552..2586
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(2557,2565,2576..2577)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(2569,2572,2576,2582..2583)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            2579..2583
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          2590..2623
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(2595,2603,2614..2615)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(2607,2610,2614,2620..2621)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            2617..2621
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          2630..2663
                     /region_name="LDLa"
                     /note="Low-density lipoprotein receptor domain class A;
                     smart00192"
                     /db_xref="CDD:197566"
     Site            order(2636,2645,2656..2657)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(2649,2652,2656,2662..2663)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            2659..2663
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          2714..2747
                     /region_name="LDLa"
                     /note="Low-density lipoprotein receptor domain class A;
                     smart00192"
                     /db_xref="CDD:197566"
     Site            order(2720,2728,2740..2741)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(2733,2736,2740,2746..2747)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            2743..2747
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          2761..2795
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(2766,2774,2785..2786)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(2778,2781,2785,2791..2792)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            2788..2792
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          2818..2841
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          2838..2868
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(2838,2841,2854)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          2905..2949
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          2950..2988
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          2993..3034
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          3037..3076
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          3147..3183
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          3187..3218
                     /region_name="LDLa"
                     /note="Low-density lipoprotein receptor domain class A;
                     smart00192"
                     /db_xref="CDD:197566"
     Site            order(3192,3200,3211..3212)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(3204,3207,3211,3217..3218)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            3214..3218
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          3227..3261
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(3232,3240,3251..3252)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(3244,3247,3251,3257..3258)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            3254..3258
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          3266..3301
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(3271,3280,3291..3292)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(3284,3287,3291,3297..3298)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            3294..3298
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          3306..3341
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(3311,3320,3331..3332)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(3324,3327,3331,3337..3338)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            3334..3338
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          3346..3380
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(3351,3359,3370..3371)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(3363,3366,3370,3376..3377)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            3373..3377
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          3385..3419
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(3390,3398,3409..3410)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(3402,3405,3409,3415..3416)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            3412..3416
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          3423..3457
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(3428,3436,3447..3448)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(3440,3443,3447,3453..3454)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            3450..3454
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          3464..3498
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(3469,3477,3488..3489)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(3481,3484,3488,3494..3495)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            3491..3495
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          3502..3537
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(3507,3516,3527..3528)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(3520,3523,3527,3533..3534)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            3530..3534
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          3544..3576
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(3549,3557,3568..3569)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(3561,3564,3568,3574..3575)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            3571..3575
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          3591..3621
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(3591,3600,3611..3612)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(3604,3607,3611,3617..3618)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            3614..3618
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          3632..3666
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(3637,3645,3656..3657)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(3649,3652,3656,3662..3663)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            3659..3663
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          3714..3748
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          <3841..>3860
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          3909..3949
                     /region_name="Ldl_recept_b"
                     /note="Low-density lipoprotein receptor repeat class B;
                     pfam00058"
                     /db_xref="CDD:425445"
     Region          3933..3972
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          4120..4154
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     CDS             1..4469
                     /gene="LRP1B"
                     /gene_synonym="LRP-1B; LRP-DIT; LRPDIT"
                     /coded_by="XM_017004341.2:6898..20307"
                     /db_xref="GeneID:53353"
                     /db_xref="HGNC:HGNC:6693"
                     /db_xref="MIM:608766"
ORIGIN      
        1 mvrnstrcyc edgfeitedg rsckdqdeca vygtcsqtcr nthgsytcsc vegylmqpdn
       61 rsckakiept drppillian fetievfyln gskmatlssv ngneihtldf iynedmicwi
      121 esressnqlk ciqitkaggl tdewtinilq sfhnvqqmai dwltrnlyfv dhvgdrifvc
      181 nsngsvcvtl idlelhnpka iavdpiagkl fftdygnvak vercdmdgmn rtriidskte
      241 qpaalaldlv nklvywvdly ldyvgvvdyq gknrhtviqg rqvrhlygit vfedylyatn
      301 sdnynivrin rfngtdihsl ikienawgir iyqkrtqptv rshacevdpy gmpggcshic
      361 llsssyktrt crcrtgfnlg sdgrsckrpk nelflfygkg rpgivrgmdl ntkiadeymi
      421 pienlvnpra ldfhaetnyi yfadttsfli grqkidgter etilkddldn vegiavdwig
      481 nnlywtndgh rktinvarle kasqsrktll egemshprgi vvdpvngwmy wtdweedeid
      541 dsvgriekaw mdgfnrqifv tskmlwpngl tldfhtntly wcdayydhie kvflngthrk
      601 ivysgrelnh pfglshhgny vfwtdymngs ifqldlitse vtllrherpp lfglqiydpr
      661 kqqgdnmcrv nnggcstlcl aipggrvcac adnqlldeng ttctfnpgea lphickagef
      721 rcknrhciqa rwkcdgdddc ldgsdedsvn cfnhscpddq fkcqnnrcip krwlcdgand
      781 cgsnedesnq tctartcqvd qfscgngrci prawlcdred dcgdqtdema scefptcepl
      841 tqfvcksgrc isskwhcdsd ddcgdgsdev gcvhscfdnq frcssgrcip ghwacdgdnd
      901 cgdfsdeaqi nctkeeihsp agcngnefqc hpdgncvpdl wrcdgekdce dgsdekgcng
      961 tirlcdhktk fscwstgrci nkawvcdgdi dcedqsdedd cdsflcgppk hpcandtsvc
     1021 lqpeklcngk kdcpdgsdeg ylcdecslnn ggcsnhcsvv pgrgivcscp eglqlnkdnk
     1081 tceivdycsn hlkcsqvceq hkhtvkcscy egwkldvdge sctsvdpfea fiifsirhei
     1141 rridlhkrdy sllvpglrnt ialdfhfnqs llywtdvved riyrgklses ggvsaievvv
     1201 ehglatpegl tvdwiagniy widsnldqie vakldgslrt tliagamehp raialdpryg
     1261 ilfwtdwdan fpriesasms gagrktiykd mktgawpngl tvdhfekriv wtdarsdaiy
     1321 salydgtnmi eiirgheyls hpfavslygs evywtdwrtn tlskankwtg qnvsviqkts
     1381 aqpfdlqiyh psrqpqapnp caandgkgpc shmclinhnr saacacphlm klssdkktcy
     1441 emkkfllyar rseirgvdid npyfnfitaf tvpdiddvtv idfdaseerl ywtdiktqti
     1501 krafingtgl etvisrdiqs irglavdwvs rnlywissef detqinvarl dgslktsiih
     1561 gidkpqclaa hpvrgklywt dgntinmanm dgsnskilfq nqkepvglsi dyvenklywi
     1621 ssgngtinrc nldggnlevi esmkeeltka taltimdkkl wwadqnlaql gtcskrdgrn
     1681 ptilrnktsg vvhmkvydke aqqgsnscql nnggcsqlcl ptsettrtcm ctvgyylqkn
     1741 rmscqgiesf lmysvhegir giplepsdkm dalmpisgts favgidfhae ndtiywtdmg
     1801 fnkisrakrd qtwkediitn glgrvegiav dwiagniywt dhgfnlieva rlngsfryvi
     1861 isqgldqprs iavhpekgll fwtewgqmpc igkarldgse kvvlvsmgia wpngisidye
     1921 enklywcdar tdkieridle tggnremvls gsnvdmfsva vfgayiywsd rahangsvrr
     1981 ghkndateti tmrtglgvnl kevkifnrvr ekgtnvcard nggckqlcly rgnsrrtcac
     2041 ahgylaedgv tclrhegyll ysgrtilksi hlsdetnlns pirpyenpry fknvialafd
     2101 ynqrrkgtnr ifysdahfgn iqlikdnwed rqvivenvgs veglayhraw dtlywtsstt
     2161 ssitrhtvdq trpgafdrea vitmseddhp hvlaldecqn lmfwtnwneq hpsimrstlt
     2221 gknaqvvvst diltpnglti dyraeklyfs dgslgkierc eydgsqrhvi vksgpgtfls
     2281 lavydnyifw sdwgrrailr snkytggdtk ilrsdiphqp mgiiavandt nscelspcal
     2341 lnggchdlcl ltpngrvncs crgdrilled nrcvtknssc naysefecgn gecidyqltc
     2401 dgiphckdks dekllycenr scrrgfkpcy nrrciphgkl cdgendcgdn sdeldckvst
     2461 catvefrcad gtciprsarc nqnidcadas dekncnntdc thfyklgvkt tgfircnsts
     2521 lcvlptwicd gsndcgdysd elkcpvqnkh kceenyfscp sgrcilntwi cdgqkdcedg
     2581 rdefhcdssc swnqfacsaq kciskhwicd geddcgdgld esdsicgait caadmfscqg
     2641 sracvprhwl cdgerdcpdg sdelstagca pnntcdenaf mchnkvcipk qfvcdhdddc
     2701 gdgsdespqc gyrqcgteef scadgrclln tqwqcdgdfd cpdhsdeapl npkcksaeqs
     2761 cnssffmckn grcipsgglc dnkddcgdgs dernchinec lskkvsgcsq dcqdlpvsyk
     2821 ckcwpgfqlk ddgktcvdid ecssgfpcsq qcintygtyk clctdgyeiq pdnpngcksl
     2881 sdeepflila dhheirkist dgsnytllkq glnnviaidf dyreefiywi dssrpngsri
     2941 nrmclngsdi kvvhntavpn alavdwigkn lywsdtekri ievsklngly ptilvskrlk
     3001 fprdlsldpq agylywidcc eyphigrvgm dgtnqsvvie tkisrpmalt idyvnrrlyw
     3061 adenhiefsn mdgshrhkvp nqdipgvial tlfedyiywt dgktkslsra hktsgadrls
     3121 liyswhaitd iqvyhsyrqp dvskhlcmin nggcshlcll apgkthtcac ptnfylaadn
     3181 rtclsnctas qfrcktdkci pfwwkcdtvd dcgdgsdepd dcpefrcqpg rfqcgtglca
     3241 lpaficdgen dcgdnsdeln cdthvclsgq fkctknqkci pvnlrcngqd dcgdeederd
     3301 cpenscspdy fqckttkhci sklwvcdedp dcadasdean cdkktcgphe fqcknnncip
     3361 dhwrcdsqnd csdnsdeenc kpqtctlkdf lcangdcvss rfwcdgdfdc adgsdernce
     3421 tscskdqfrc sngqcipakw kcdghedcky gedekscepa sptcssreyi casdgcisas
     3481 lkcngeydca dgsdemdcvt eckedqfrck nkahcipirw lcdgihdcvd gsdeencerg
     3541 gnicradefl cnnslcklhf wvcdgeddcg dnsdeapdmc vkflcpstrp hrcrnnricl
     3601 qseqmcngid ecgdnsdedh cggkltykar pckkdefacs nkkcipmdlq cdrlddcgdg
     3661 sdeqgcriap teytcednvn pcgddaycnq iktsvfcrck pgfqrnmknr qcedlneclv
     3721 fgtcshqcin vegsykcvcd qnfqernntc iaegsedqvl yiandtdilg fiypfnysgd
     3781 hqqishiehn sritgmdvyy qrdmiiwstq fnpggifykr ihgrekrqan sglicpefkr
     3841 prdiavdwva gniywtdhsr mhwfsyytth wtslrysinv gqlngpnctr lltnmagepy
     3901 aiavnpkrgm mywtvvgdhs hieeaamdgt lrrilvqknl qrptglavdy fseriywadf
     3961 elsiigsvly dgsnsvvsvs skqgllhphr idifedyiyg agpkngvfrv qkfghgsvey
     4021 lalnidktkg vlishrykql dlpnpcldla ceflcllnps gatcvcpegk ylingtcndd
     4081 sllddscklt cenggrciln ekgdlrchcw psysgercev nhcsnycqng gtcvpsvlgr
     4141 ptcscalgft gpncgktvce dfcqnggtci vtagnqpych cqpeytgdrc qyyvchhycv
     4201 nsesctigdd gsvecvcptr yegpkcevdk cvrchgghci inkdsedifc nctngkiass
     4261 cqlcdgycyn ggtcqldpet nvpvclcstn wsgtqcerpa pkssksdhis trsiaiivpl
     4321 vllvtlittl viglvlckrk rrtktirrqp iingginvei gnpsynmyev dhdhndggll
     4381 dpgfmidptk aryigggpsa fklphtappi ylnsdlkgpl tagptnysnp vyaklymdgq
     4441 ncrnslgsvd erkellpkki eigiretva
//
LOCUS       XP_047301547            2364 aa            linear   PRI 20-MAR-2023
DEFINITION  spectrin beta chain, non-erythrocytic 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047301547
VERSION     XP_047301547.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445591.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2364
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..2364
                     /product="spectrin beta chain, non-erythrocytic 1 isoform
                     X1"
                     /calculated_mol_wt=274479
     Region          3..156
                     /region_name="CH_SPTBN1_rpt1"
                     /note="first calponin homology (CH) domain found in
                     spectrin beta chain, non-erythrocytic 1 (SPTBN1) and
                     similar proteins; cd21316"
                     /db_xref="CDD:409165"
     Site            order(41,44..45,48..49,52..53,56,110,113..114,117,124,
                     129..137,144..145,147..148,151..152,155..156)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409165"
     Region          48..>530
                     /region_name="SAC6"
                     /note="Ca2+-binding actin-bundling protein fimbrin/plastin
                     (EF-Hand superfamily) [Cytoskeleton]; COG5069"
                     /db_xref="CDD:227401"
     Region          173..277
                     /region_name="CH_SPTB_like_rpt2"
                     /note="second calponin homology (CH) domain found in the
                     beta-I spectrin-like subfamily; cd21248"
                     /db_xref="CDD:409097"
     Site            order(175,179,229,231..232,235,242,247..255,264..265,
                     267..268,271..272,275)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409097"
     Region          530..743
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            637..642
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          642..849
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            743..748
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          851..1061
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            954..959
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          958..1169
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1061..1066
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1171..1380
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1274..1279
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1381..1592
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1484..1489
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1593..1805
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1697..1702
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1806..2027
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1910..1915
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          2017..>2075
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Region          2200..2305
                     /region_name="PH_beta_spectrin"
                     /note="Beta-spectrin pleckstrin homology (PH) domain;
                     cd10571"
                     /db_xref="CDD:269975"
     Site            order(2207,2220..2222,2268)
                     /site_type="other"
                     /note="non-cannonical phosphoinositide binding site
                     [chemical binding]"
                     /db_xref="CDD:269975"
     CDS             1..2364
                     /gene="SPTBN1"
                     /gene_synonym="betaSpII; DDISBA; ELF; HEL102; SPTB2"
                     /coded_by="XM_047445591.1:134..7228"
                     /db_xref="GeneID:6711"
                     /db_xref="HGNC:HGNC:11275"
                     /db_xref="MIM:182790"
ORIGIN      
        1 mtttvatdyd nieiqqqysd vnnrwdvddw dnenssarlf ersrikalad ereavqkktf
       61 tkwvnshlar vscritdlyt dlrdgrmlik llevlsgerl pkptkgrmri hclenvdkal
      121 qflkeqrvhl enmgshdivd gnhrltlgli wtiilrfqiq disvetednk ekksakdall
      181 lwcqmktagy pnvnihnftt swrdgmafna lihkhrpdli dfdklkksna hynlqnafnl
      241 aeqhlgltkl ldpedisvdh pdeksiityv vtyyhyfskm kalavegkri gkvldnaiet
      301 ekmiekyesl asdllewieq tiiilnnrkf anslvgvqqq lqafntyrtv ekppkftekg
      361 nlevllftiq skmrannqkv ympregklis dinkawerle kaeherelal rnelirqekl
      421 eqlarrfdrk aamretwlse nqrlvsqdnf gfdlpaveaa tkkheaietd iaayeervqa
      481 vvavarelea enyhdikrit arkdnvirlw eyllellrar rqrlemnlgl qkifqemlyi
      541 mdwmdemkvl vlsqdygkhl lgvedllqkh tlveadigiq aervrgvnas aqkfatdgeg
      601 ykpcdpqvir drvahmefcy qelcqlaaer rarleesrrl wkffwemaee egwirekeki
      661 lssddygkdl tsvmrllskh rafedemsgr sghfeqaike gedmiaeehf gsekirerii
      721 yireqwanle qlsairkkrl eeasllhqfq adaddidawm ldilkivsss dvghdeystq
      781 slvkkhkdva eeianyrptl dtlheqasal pqehaespdv rgrlsgieer ykevaeltrl
      841 rkqalqdtla lykmfseada celwidekeq wlnnmqipek ledleviqhr feslepemnn
      901 qasrvavvnq iarqlmhsgh psekeikaqq dklntrwsqf relvdrkkda llsalsiqny
      961 hlecnetksw irektkvies tqdlgndlag vmalqrkltg merdlvaiea klsdlqkeae
     1021 klesehpdqa qailsrlaei sdvweemktt lknreaslge asklqqflrd lddfqswlsr
     1081 tqtaiasedm pntlteaekl ltqhenikne idnyeedyqk mrdmgemvtq gqtdaqymfl
     1141 rqrlqaldtg wnelhkmwen rqnllsqsha yqqflrdtkq aeaflnnqey vlahtemptt
     1201 legaeaaikk qedfmttmda neekinavve tgrrlvsdgn insdriqekv dsiddrhrkn
     1261 retasellmr lkdnrdlqkf lqdcqelslw inekmltaqd msydearnlh skwlkhqafm
     1321 aelasnkewl dkiekegmql isekpeteav vkekltglhk mwevlesttq tkaqrlfdan
     1381 kaelftqsca dldkwlhgle sqiqsddygk dltsvnillk kqqmlenqme vrkkeieelq
     1441 sqaqalsqeg kstdevdskr ltvqtkfmel leplnerkhn llaskeihqf nrdvedeilw
     1501 vgermplats tdhghnlqtv qllikknqtl qkeiqghqpr iddifersqn ivtdssslsa
     1561 eairqrladl kqlwglliee tekrhrrlee ahraqqyyfd aaeaeawmse qelymmseek
     1621 akdeqsavsm lkkhqileqa vedyaetvhq lsktsralva dshpeseris mrqskvdkly
     1681 aglkdlaeer rgklderhrl fqlnrevddl eqwiaerevv agshelgqdy ehvtmlqerf
     1741 refardtgni gqervdtvnh ladelinsgh sdaatiaewk dglneawadl lelidtrtqi
     1801 laasyelhkf yhdakeifgr iqdkhkklpe elgrdqntve tlqrmhttfe hdiqalgtqv
     1861 rqlqedaarl qaayagdkad diqkrenevl eawkslldac esrrvrlvdt gdkfrffsmv
     1921 rdlmlwmedv irqieaqekp rdvssvellm nnhqgikaei darndsfttc ielgksllar
     1981 khyaseeike kllqltekrk emidkwedrw ewlrlilevh qfsrdasvae awllgqepyl
     2041 ssreigqsvd eveklikrhe afeksaatwd erfsalerlt tlellevrrq qeeeerkrrp
     2101 pspepstkvs eeaesqqqwd tskgeqvsqn glpaeqgspr maetvdtsem vngateqrts
     2161 skesspipsp tsdrkaktal paqsaatlpa rtqetpsaqm egflnrkhew eahnkkassr
     2221 swhnvycvin nqemgfykda ktaasgipyh sevpvslkea vcevaldykk kkhvfklrln
     2281 dgneylfqak ddeemntwiq aissaissdk hevsastqst passraqtlp tsvvtitses
     2341 spgkrekdke kdkekrfslf gkkk
//
LOCUS       XP_047273339            1367 aa            linear   PRI 20-MAR-2023
DEFINITION  erbin isoform X8 [Homo sapiens].
ACCESSION   XP_047273339
VERSION     XP_047273339.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417383.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1367
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..1367
                     /product="erbin isoform X8"
                     /calculated_mol_wt=153412
     Region          24..47
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          48..70
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          70..402
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:227223"
     Region          71..93
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          94..116
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          117..139
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          140..162
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          163..185
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          186..208
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          209..231
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          255..277
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          278..300
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          301..323
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          347..369
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1276..1362
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1287..1289,1291,1346..1347,1350..1351)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     CDS             1..1367
                     /gene="ERBIN"
                     /gene_synonym="ERBB2IP; HEL-S-78; LAP2"
                     /coded_by="XM_047417383.1:390..4493"
                     /db_xref="GeneID:55914"
                     /db_xref="HGNC:HGNC:15842"
                     /db_xref="MIM:606944"
ORIGIN      
        1 mttkrslfvr lvpcrclrge eetvttldys hcsleqvpke iftfektlee lyldanqiee
       61 lpkqlfncqs lhklslpdnd lttlpasian linlreldvs kngiqefpen iknckvltiv
      121 easvnpiskl pdgfsqllnl tqlylndafl eflpanfgrl tklqilelre nqlkmlpktm
      181 nrltqlerld lgsneftevp evleqlsglk efwmdanrlt fipgfigslk qltyldvskn
      241 niemveegis tcenlqdlll ssnslqqlpe tigslknitt lkidenqlmy lpdsigglis
      301 veeldcsfne vealpssigq ltnlrtfaad hnylqqlppe igswknitvl flhsnkletl
      361 peemgdmqkl kvinlsdnrl knlpfsftkl qqltamwlsd nqskpliplq ketdsetqkm
      421 vltnymfpqq prtedvmfis dnesfnpslw eeqrkqraqv afecdedkde reappregnl
      481 kryptpypde lknmvktvqt ivhrlkdeet nedsgrdlkp hedqqdinkd tsestttvks
      541 kvderekymi gnsvqkisep eaeispgslp vtanmkasen lkhivnhddv feeseelssd
      601 eemkmaemrp plietsinqp kvvalsnnkk ddtketdsls devthnsnqn nsncsspsrm
      661 sdsvslntds sqdtslcspv kqthidinsk irqedenfns llqngdilns steekfkahd
      721 kkdfnlpeyd lnveerlvli eksvdstata ddthkldhin mnlnklitnd tfqpeimers
      781 ktqdivlgts flsinskeet ehlengnkyp nlesvnkvng hseetsqspn rtephdsdcs
      841 vdlgiskste dlspqksgpv gsvvkshsit nmeigglkiy dilsdngpqq psttvkitsa
      901 vdgknivrsk satllydqpl qvftgsssss dlisgtkaif kfdsnhnpee pniirgptsg
      961 pqsapqiygp pqyniqysss aavkdtlwhs kqnpqidhas fppqllprse stenqsyakh
     1021 sanmnfsnhn nvrantayhl hqrlgparhg emwaispndr lipavtrsti qrqssvssta
     1081 svnlgdpgst rraqipegdy lsyrefhsag rtppmmpgsq rplsartysi dgpnasrpqs
     1141 arpsineipe rtmsvsdfny srtspskrpn arvgsehsll dppgkskvpr dwreqvlrhi
     1201 eakklekmpl sngqmgqplr pqanysqihh ppqasvarhp sreqlidylm lkvahqppyt
     1261 qphcsprqgh elakqeirvr vekdpelgfs isggvggrgn pfrpdddgif vtrvqpegpa
     1321 skllqpgdki iqangysfin iehgqavsll ktfqntveli ivrevss
//
LOCUS       XP_047273658             384 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-J-like protein isoform X4 [Homo sapiens].
ACCESSION   XP_047273658
VERSION     XP_047273658.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417702.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..384
                     /product="cyclin-J-like protein isoform X4"
                     /calculated_mol_wt=42629
     Region          30..>113
                     /region_name="CYCLIN_CCNJ-like_rpt1"
                     /note="first cyclin box found in cyclin-J (CCNJ) family;
                     cd20528"
                     /db_xref="CDD:410231"
     Region          142..243
                     /region_name="CYCLIN_CCNJ-like_rpt2"
                     /note="second cyclin box found in cyclin-J (CCNJ) family;
                     cd20529"
                     /db_xref="CDD:410232"
     CDS             1..384
                     /gene="CCNJL"
                     /coded_by="XM_047417702.1:727..1881"
                     /db_xref="GeneID:79616"
                     /db_xref="HGNC:HGNC:25876"
ORIGIN      
        1 mgdspggaai lglagklrre lklptfrahs pllksrrffv diltllsshc qlcpaarhla
       61 vylldhfmdr ynvttskqly tvavscllla skfedredhv pkleqinstr ilssqnftlt
      121 kkellstell lleafswnlc lptpahfldy yllasvsqkd hhchtwpttc prktkeclke
      181 yahyflevtl qdhifykfqp svvaaacvga sriclqlspy wtrdlqriss yslehlstci
      241 eillvvydnv lkdavavksq alamvpgtpp tptqvlfqpp aypalgqpat tlaqfqtpvq
      301 dlclayrdsl qahrsgslls gstgsslhtp yqplqpldmc pvpvpaslsm hmaiaaeprh
      361 clattygssy fsgshmfptg cfdr
//
LOCUS       XP_047274726            1816 aa            linear   PRI 20-MAR-2023
DEFINITION  laminin subunit alpha-4 isoform X2 [Homo sapiens].
ACCESSION   XP_047274726
VERSION     XP_047274726.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418770.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1816
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1816
                     /product="laminin subunit alpha-4 isoform X2"
                     /calculated_mol_wt=201690
     Region          81..130
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(82,84,91,98,101,110)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          131..185
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(132,134,146,155,157,166)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          187..238
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(187,189,202,209,212,221)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          291..547
                     /region_name="Laminin_I"
                     /note="Laminin Domain I; pfam06008"
                     /db_xref="CDD:310534"
     Region          400..>745
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          727..854
                     /region_name="Laminin_II"
                     /note="Laminin Domain II; pfam06009"
                     /db_xref="CDD:368703"
     Region          828..1005
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cd00110"
                     /db_xref="CDD:238058"
     Region          1042..1200
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cd00110"
                     /db_xref="CDD:238058"
     Region          1230..1369
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cd00110"
                     /db_xref="CDD:238058"
     Region          1485..1617
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cd00110"
                     /db_xref="CDD:238058"
     Region          1641..1792
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cd00110"
                     /db_xref="CDD:238058"
     CDS             1..1816
                     /gene="LAMA4"
                     /gene_synonym="CMD1JJ; LAMA3; LAMA4*-1"
                     /coded_by="XM_047418770.1:390..5840"
                     /db_xref="GeneID:3910"
                     /db_xref="HGNC:HGNC:6484"
                     /db_xref="MIM:600133"
ORIGIN      
        1 malssawrsv lplwllwsaa csraasgddn afpfdiegss avgrqdppet seprvalgrl
       61 ppaaekcnag ffhtlsgecv pcdcngnsne cldgsgycvh cqrnttgehc ekcldgyigd
      121 sirgapqfcq pcpcplphla nfaescyrkn gavrcicnen yagpncerca pgyygnplli
      181 gstckkcdcs gnsdpnlife dcdevtgqcr nclrnttgfk cercapgyyg dariakncav
      241 cncgggpcds vtgecleegf epptgcdkcv wdltddlrla alsieegksg vlsvssgaaa
      301 hrhvneinat iyllktklse renqyalrki qinnaentmk sllsdveelv ekenqasrkg
      361 qlvqkesmdt inhasqlveq ahdmrdkiqe innkmlyyge ehelspkeis eklvlaqkml
      421 eeirsrqpff tqrelvdeea deayellsqa eswqrlhnet rtlfpvvleq lddynaklsd
      481 lqealdqaln yvrdaedmnr ataarqrdhe kqqervreqm evvnmslsts adslttprlt
      541 lselddiikn asgiyaeidg akselqvkls nlsnlshdlv qeaidhaqdl qqeanelsrk
      601 lhssdmnglv qkaldasnvy enivnyvsea netaefalnt tdriydavsg idtqiiyhkd
      661 esenllnqar elqakaesss deavadtsrr vggalarksa lktrlsdavk qlqaaergda
      721 qqrlgqsrli teeanrttme vqqatapman nltnwsqnlq hfdssaynta vnsardavrn
      781 ltevvpqlld qlrtveqkrp asnvsasiqr ireliaqtrs vaskiqvsmm fdgqsavevh
      841 srtsmddlka ftslslymkp pvkrpeltet adqfilylgs knakkeymgl aikndnlvyv
      901 ynlgtkdvei pldskpvssw payfsivkie rvgkhgkvfl tvpslsstae ekfikkgefs
      961 gddslldldp edtvfyvggv psnfklptsl nlpgfvgcle latlnndvis lynfkhiynm
     1021 dpstsvpcar dklaftqsra asyffdgsgy avvrditrrg kfgqvtrfdi evrtpadngl
     1081 illmvngsmf frlemrngyl hvfydfgfsg gpvhledtlk kaqindakyh eisiiyhndk
     1141 kmilvvdrrh vksmdnekmk ipftdiyigg appeilqsra lrahlpldin frgcmkgfqf
     1201 qkkdfnlleq tetlgvgygc pedslisrra yfngqsfias iqkisffdgf eggfnfrtlq
     1261 pngllfyyas gsdvfsisld ngtvimdvkg ikvqsvdkqy ndglshfvis svsptryeli
     1321 vdksrvgskn ptkgkieqtq asekkfyfgg spisaqyanf tgcisnayft rvdrdveved
     1381 fqrytekvht slyecpiess plfllhkkgk nlskpkasqn kkggkskdap swdpvalklp
     1441 erntprnshc hlsnspraie hayqyggtan srqefehlkg dfgaksqfsi rlrtrsshgm
     1501 ifyvsdqeen dfmtlflahg rlvymfnvgh kklkirsqek yndglwhdvi firerssgrl
     1561 vidglrvlee slppteatwk ikgpiylggv apgkavknvq insiysfsgc lsnlqlngas
     1621 itsasqtfsv tpcfegpmet gtyfsteggy vvldesfnig lkfeiafevr prsssgtlvh
     1681 ghsvngeyln vhmkngqviv kvnngirdfs tsvtpkqslc dgrwhritvi rdsnvvqldv
     1741 dsevnhvvgp lnpkpidhre pvfvggvpes lltprlapsk pftgcirhfv idghpvsfsk
     1801 aalvsgavsi nscpaa
//
LOCUS       XP_047276067             240 aa            linear   PRI 20-MAR-2023
DEFINITION  STEAP family member 1B isoform X7 [Homo sapiens].
ACCESSION   XP_047276067
VERSION     XP_047276067.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420111.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..240
                     /product="STEAP family member 1B isoform X7"
                     /calculated_mol_wt=28172
     Region          99..238
                     /region_name="Ferric_reduct"
                     /note="Ferric reductase like transmembrane component;
                     pfam01794"
                     /db_xref="CDD:426438"
     CDS             1..240
                     /gene="STEAP1B"
                     /coded_by="XM_047420111.1:107..829"
                     /db_xref="GeneID:256227"
                     /db_xref="HGNC:HGNC:41907"
ORIGIN      
        1 mesrkditnq eeiwkmkprr nledndylqt ahadefdcps elqhaqelfp qwhlpikiaa
       61 vmasltflyt llrevihpla tshqqyfyki pilvinkvlp mvsitllalv ylpgviaaiv
      121 qvhngtkykk fphwldkwml trkqfgllsl ffavlhaiyt lsyamrrsyr ykllnwayqq
      181 vqqnkedawi ehdvwrmeiy vslgivglai lallavtsip svsdsltwre fhyiqrllqe
//
LOCUS       XP_047276832             537 aa            linear   PRI 20-MAR-2023
DEFINITION  caldesmon isoform X14 [Homo sapiens].
ACCESSION   XP_047276832
VERSION     XP_047276832.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420876.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..537
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..537
                     /product="caldesmon isoform X14"
                     /calculated_mol_wt=62445
     Region          53..524
                     /region_name="Caldesmon"
                     /note="pfam02029"
                     /db_xref="CDD:426572"
     CDS             1..537
                     /gene="CALD1"
                     /gene_synonym="CDM; H-CAD; h-CD; HCAD; L-CAD; LCAD; NAG22"
                     /coded_by="XM_047420876.1:180..1793"
                     /db_xref="GeneID:800"
                     /db_xref="HGNC:HGNC:1441"
                     /db_xref="MIM:114213"
ORIGIN      
        1 mddferrrel rrqkreemrl eaeriayqrn dddeeeaare rrrrarqerl rqkqeeeslg
       61 qvtdqvevna qnsvpdeeak ttttntqveg ddeaaflerl arreerrqkr lqealerqke
      121 fdptitdasl slpsrrmqnd taenetteke eksesrqery eieetetvtk syqkndwrda
      181 eenkkedkek eeeeeekpkr gsigenqikd ekikkdkepk eevksfmdrk kgftevksqn
      241 gefmthklkh tentfsrpgg rasvdtkeae gapqveagkr leelrrrrge teseefeklk
      301 qkqqeaalel eelkkkreer rkvleeeeqr rkqeeadrkl reeeekrrlk eeierrraea
      361 aekrqkmped glsddkkpfk cftpkgsslk ieeraeflnk svqksgvkst hqaaivskid
      421 srleqytsai egtksakptk paasdlpvpa egvrniksmw ekgnvfsspt aagtpnketa
      481 glkvgvssri newltktpdg nkspapkpsd lrpgdvsskr nlwekqsvdk vtsptkv
//
LOCUS       XP_011515103             533 aa            linear   PRI 20-MAR-2023
DEFINITION  ribonucleases P/MRP protein subunit POP1 isoform X1 [Homo sapiens].
ACCESSION   XP_011515103
VERSION     XP_011515103.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011516801.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..533
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..533
                     /product="ribonucleases P/MRP protein subunit POP1 isoform
                     X1"
                     /calculated_mol_wt=60363
     Region          107..257
                     /region_name="POP1"
                     /note="Ribonucleases P/MRP protein subunit POP1;
                     pfam06978"
                     /db_xref="CDD:429227"
     CDS             1..533
                     /gene="POP1"
                     /gene_synonym="ANXD2"
                     /coded_by="XM_011516801.3:101..1702"
                     /db_xref="GeneID:10940"
                     /db_xref="HGNC:HGNC:30129"
                     /db_xref="MIM:602486"
ORIGIN      
        1 msnakerkha kkmrnqptnv tlssgfvadr gvkhhsggek pfqaqkqeph pgtsrqrqtr
       61 vnphslpdpe vneqssskgm frkkggwkag pegtsqeipk yitastfaqa raaeisamlk
      121 avtqkssnsl vfqtlprhmr rramshnvkr lprrlqeiaq keaekavhqk kehsknkchk
      181 arrchmnrtl efnrrqkkni wlethiwhak rfhmvkkwgy clgerptvks hracyramtn
      241 rcllqdlsyy cclelkgkee eilkalsgmc nidtgltfaa vhclsgkrqg slvlyrvnky
      301 premlgpvtf iwksqrtpgd psesrqlwiw lhptlkqdil eeikaacqcv epiksavcia
      361 dplptpsqek sqtelpdeki gkkrkrkddg enakpikkii gdgtrdpclp yswispttgi
      421 iisdltmemn rfrligplsh silteaikaa svhtvgedte etphrwwiet ckkpdsvslh
      481 crqeaifell ggitspaeip agtilgltvg dprinlpqkk skalpnpekc qef
//
LOCUS       XP_047277974            1140 aa            linear   PRI 20-MAR-2023
DEFINITION  focal adhesion kinase 1 isoform X3 [Homo sapiens].
ACCESSION   XP_047277974
VERSION     XP_047277974.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422018.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1140
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1140
                     /product="focal adhesion kinase 1 isoform X3"
                     /calculated_mol_wt=129251
     Region          86..181
                     /region_name="FERM_N_2"
                     /note="FERM N-terminal domain; pfam18038"
                     /db_xref="CDD:436229"
     Region          87..309
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          305..415
                     /region_name="FERM_C_FAK1"
                     /note="FERM domain C-lobe of Focal Adhesion Kinase 1 and
                     2; cd13190"
                     /db_xref="CDD:270011"
     Site            order(313,333,335,342)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270011"
     Site            order(347,352..355,392,396,399..400)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Site            392..403
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Region          500..769
                     /region_name="PTKc_FAK"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Focal Adhesion Kinase; cd05056"
                     /db_xref="CDD:133187"
     Site            order(513..517,521,537,539,556,569,584..587,590..591,631,
                     635..636,638,649,666..670,679,713)
                     /site_type="active"
                     /db_xref="CDD:133187"
     Site            order(513..517,521,537,539,556,569,584..587,590..591,
                     635..636,638,649)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133187"
     Site            order(631,635,666..670,679,713)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133187"
     Site            648..672
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133187"
     Site            order(679..683,717,721,746)
                     /site_type="other"
                     /note="FERM domain interface [polypeptide binding]"
                     /db_xref="CDD:133187"
     Region          1004..1133
                     /region_name="Focal_AT"
                     /note="Focal adhesion targeting region; pfam03623"
                     /db_xref="CDD:427406"
     CDS             1..1140
                     /gene="PTK2"
                     /gene_synonym="FADK; FADK 1; FAK; FAK1; FRNK; p125FAK;
                     pp125FAK; PPP1R71"
                     /coded_by="XM_047422018.1:181..3603"
                     /db_xref="GeneID:5747"
                     /db_xref="HGNC:HGNC:9611"
                     /db_xref="MIM:600758"
ORIGIN      
        1 mwnpltwmad ciaelglpci fqlqiqcllq fpqsssrite eydrylassk imaaayldpn
       61 lnhtpnsstk thlgtgmers pgamervlkv fhyfesnsep ttwasiirhg datdvrgiiq
      121 kivdshkvkh vacygfrlsh lrseevhwlh vdmgvssvre kyelahppee wkyelriryl
      181 pkgflnqfte dkptlnffyq qvksdymlei adqvdqeial klgcleirrs ywemrgnale
      241 kksnyevlek dvglkrffpk slldsvkakt lrkliqqtfr qfanlnrees ilkffeilsp
      301 vyrfdkecfk calgsswiis velaigpeeg isyltdkgcn pthladftqv qtiqysnsed
      361 kdrkgmlqlk iagapepltv tapsltiaen madlidgycr lvngtsqsfi irpqkegera
      421 lpsipklans ekqgmrthav svsgvshcqh kvkkarrflp lvfcshdpps tdeisgdetd
      481 dyaeiideed tytmpstrdy eiqrerielg rcigegqfgd vhqgiymspe npalavaikt
      541 cknctsdsvr ekflqealtm rqfdhphivk ligvitenpv wiimelctlg elrsflqvrk
      601 ysldlaslil yayqlstala yleskrfvhr diaarnvlvs sndcvklgdf glsrymedst
      661 yykaskgklp ikwmapesin frrftsasdv wmfgvcmwei lmhgvkpfqg vknndvigri
      721 engerlpmpp ncpptlyslm tkcwaydpsr rprftelkaq lstileeeka qqeermrmes
      781 rrqatvswds ggsdeappkp srpgypsprs segfypspqh mvqtnhyqvs gypgshgita
      841 magsiypgqa slldqtdswn hrpqeiamwq pnvedstvld lrgigqvlpt hlmeerlirq
      901 qqemeedqrw lekeerflkp dvrlsrgsid redgslqgpi gnqhiyqpvg kpdpaappkk
      961 pprpgapghl gslaslsspa dsynegvkpw rlqpqeispp ptanldrsnd kvyenvtglv
     1021 kaviemsski qpappeeyvp mvkevglalr tllatvdeti pllpasthre iemaqkllns
     1081 dlgelinkmk laqqyvmtsl qqeykkqmlt aahalavdak nlldvidqar lkmlgqtrph
//
LOCUS       XP_047278010             949 aa            linear   PRI 20-MAR-2023
DEFINITION  focal adhesion kinase 1 isoform X38 [Homo sapiens].
ACCESSION   XP_047278010
VERSION     XP_047278010.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422054.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..949
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..949
                     /product="focal adhesion kinase 1 isoform X38"
                     /calculated_mol_wt=107425
     Region          <9..145
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          141..251
                     /region_name="FERM_C_FAK1"
                     /note="FERM domain C-lobe of Focal Adhesion Kinase 1 and
                     2; cd13190"
                     /db_xref="CDD:270011"
     Site            order(149,169,171,178)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270011"
     Site            order(183,188..191,228,232,235..236)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Site            228..239
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Region          309..578
                     /region_name="PTKc_FAK"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Focal Adhesion Kinase; cd05056"
                     /db_xref="CDD:133187"
     Site            order(322..326,330,346,348,365,378,393..396,399..400,440,
                     444..445,447,458,475..479,488,522)
                     /site_type="active"
                     /db_xref="CDD:133187"
     Site            order(322..326,330,346,348,365,378,393..396,399..400,
                     444..445,447,458)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133187"
     Site            order(440,444,475..479,488,522)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133187"
     Site            457..481
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133187"
     Site            order(488..492,526,530,555)
                     /site_type="other"
                     /note="FERM domain interface [polypeptide binding]"
                     /db_xref="CDD:133187"
     Region          813..942
                     /region_name="Focal_AT"
                     /note="Focal adhesion targeting region; pfam03623"
                     /db_xref="CDD:427406"
     CDS             1..949
                     /gene="PTK2"
                     /gene_synonym="FADK; FADK 1; FAK; FAK1; FRNK; p125FAK;
                     pp125FAK; PPP1R71"
                     /coded_by="XM_047422054.1:421..3270"
                     /db_xref="GeneID:5747"
                     /db_xref="HGNC:HGNC:9611"
                     /db_xref="MIM:600758"
ORIGIN      
        1 memllmsgye lrirylpkgf lnqftedkpt lnffyqqvks dymleiadqv dqeialklgc
       61 leirrsywem rgnalekksn yevlekdvgl krffpkslld svkaktlrkl iqqtfrqfan
      121 lnreesilkf feilspvyrf dkecfkcalg sswiisvela igpeegisyl tdkgcnpthl
      181 adftqvqtiq ysnsedkdrk gmlqlkiaga pepltvtaps ltiaenmadl idgycrlvng
      241 tsqsfiirpq kegeralpsi pklansekqg mrthavsvse tddyaeiide edtytmpsks
      301 ygideardye iqrerielgr cigegqfgdv hqgiymspen palavaiktc knctsdsvre
      361 kflqealtmr qfdhphivkl igvitenpvw iimelctlge lrsflqvrky sldlaslily
      421 ayqlstalay leskrfvhrd iaarnvlvss ndcvklgdfg lsrymedsty ykaskgklpi
      481 kwmapesinf rrftsasdvw mfgvcmweil mhgvkpfqgv knndvigrie ngerlpmppn
      541 cpptlyslmt kcwaydpsrr prftelkaql stileeekaq qeermrmesr rqatvswdsg
      601 gsdeappkps rpgypsprss egfypspqhm vqtnhyqvsg ypgshgitam agsiypgqas
      661 lldqtdswnh rpqeiamwqp nvedstvldl rgigqvlpth lmeerlirqq qemeedqrwl
      721 ekeerflkpd vrlsrgsidr edgslqgpig nqhiyqpvgk pdpaappkkp prpgapghlg
      781 slaslsspad synegvkpwr lqpqeisppp tanldrsndk vyenvtglvk aviemsskiq
      841 pappeeyvpm vkevglalrt llatvdetip llpasthrei emaqkllnsd lgelinkmkl
      901 aqqyvmtslq qeykkqmlta ahalavdakn lldvidqarl kmlgqtrph
//
LOCUS       XP_016869291            1644 aa            linear   PRI 20-MAR-2023
DEFINITION  maestro heat-like repeat-containing protein family member 1 isoform
            X4 [Homo sapiens].
ACCESSION   XP_016869291
VERSION     XP_016869291.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017013802.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_016869291.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1644
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1644
                     /product="maestro heat-like repeat-containing protein
                     family member 1 isoform X4"
                     /calculated_mol_wt=180693
     CDS             1..1644
                     /gene="MROH1"
                     /gene_synonym="HEATR7A"
                     /coded_by="XM_017013802.3:210..5144"
                     /db_xref="GeneID:727957"
                     /db_xref="HGNC:HGNC:26958"
ORIGIN      
        1 mtessmkkla stlldaitdk dplvqeqvcs alcslgearp vetlraceey lrqhdklahp
       61 yraavlrame rvlssrasel dkdtastiil lassemtktk dlvwdwqqaa sgvlvavgrq
      121 fiskvmeell rrlhpgtlph cavlhtlasl svanafgvvp flpsvlssll pvlgvakqdt
      181 vrvafcsalq rfsegaleyl anldrapdpt vrkdafatdi fsaydvlfhq wlqsreaklr
      241 lavvealgpm shllpserle eqlpkllpgi lalykkhaet fylskslgqi leaavsvgsr
      301 tletqldall aalhsqicvp vesssplvms nqkevlrcft vlacsspdrl lafllprldt
      361 snertrvgtl qvvrhvinsa aaqmedkkpf ilssmrlpll dtnskvkrav vqvisamahh
      421 gyleqpggea mieyivqqca lppeqepekp gpgskdpkad svraisvrtl ylvsttvdrm
      481 shvlwpyllq fltpvrftga ltplcrslvh laqkrqeaga dafliqydah aslpspyavt
      541 grllvvsssp ylgdgrgaaa lrllsvlhpn ihpllgqhwe ttvplllgyl dehteetlpq
      601 eeweekllmf lrdtlaiisd nawicqlsle lcrqlpcyde apqeknflyk cigttlgaas
      661 skevvrkhlq elletaryqe eaereglacc fgicaishle dtlaqledfv rsevfrksig
      721 ilnifkdrse nevekvksal ilcyghvaar aprelvlakv esdilrnicq hfstkdpalk
      781 lclvqsvcmv sraicsstqa gsfhftrkae lvaqmmefir aeppdslrtp irkkamltct
      841 ylvsvepald eqaradvihg clhsimallp epkeedggcq kslyletlha ledlltsllq
      901 rnmtpqglqi miehlspwik sprgherara lglsalllry flehlrvsal vpfhnlglli
      961 glfsprcadl wpatrqeavd cvysllylql gyegfsrdyr ddvaerllsl kdglvhpdpa
     1021 ilfhtchsvg qiiakrlppd qlisllltmf ealgdpeknc sraatvminc llqerggvlq
     1081 ekvpeivsvl rsklqeaqge hvlpaaqhsv yllatqhcaa vvssllgspl pldshtcmlw
     1141 ralaveprla aqvlglllek msrdvpfkes rafllgrtpd rvatllplsa tcalfevmst
     1201 paagpavlel ypqlfvvlll rvsctvgvql prnlqaqerr gaspalatrn lepcssavdt
     1261 lrsmllrsgs edvvqrmdle ggwellrtsa gheegatrla ramaehagpr lplvlktlac
     1321 thssayenqr vtttaflael lnsnvandlm lldsllesla arqkdtcasv rrlvlrglan
     1381 lasgcpdkvr thgpqlltam igglddgdnp hspvaleaml glarlvhlve swdlrsgllh
     1441 vairirpffd sekmefrtas irlfghlnkv chgdcedvfl dqvvgglapl llhlqdpqat
     1501 vasacrfalr mcgpnlacee lsaafqkhlq egralhfgef lnttckhlmh hfpdllgrll
     1561 ttclfyfkss wenvraaapl ftgkhhplph phaarqprlm pplhrvpgaa lgaqaaaagg
     1621 pgpahcgapd paegpgprga degc
//
LOCUS       XP_016870523             129 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc-regulated GTPase metalloprotein activator 1F isoform X17 [Homo
            sapiens].
ACCESSION   XP_016870523
VERSION     XP_016870523.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017015034.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..129
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..129
                     /product="zinc-regulated GTPase metalloprotein activator
                     1F isoform X17"
                     /calculated_mol_wt=14980
     Region          8..107
                     /region_name="CobW_C"
                     /note="Cobalamin synthesis protein cobW C-terminal domain;
                     pfam07683"
                     /db_xref="CDD:429593"
     CDS             1..129
                     /gene="ZNG1F"
                     /gene_synonym="CBWD6; CBWD7"
                     /coded_by="XM_017015034.1:324..713"
                     /db_xref="GeneID:644019"
                     /db_xref="HGNC:HGNC:31978"
ORIGIN      
        1 mfkneksivt itfdvpgnak eehlnmfiqn llweknvrnk dnhcmevirl kglvsikdks
       61 qqvivqgvhe lcdleetpvs wkddtertnr lvligrnldk dilkqlfiat vtetekqwtt
      121 hfkedqvct
//
LOCUS       XP_047280160             530 aa            linear   PRI 20-MAR-2023
DEFINITION  maternal embryonic leucine zipper kinase isoform X17 [Homo
            sapiens].
ACCESSION   XP_047280160
VERSION     XP_047280160.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424204.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..530
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..530
                     /product="maternal embryonic leucine zipper kinase isoform
                     X17"
                     /calculated_mol_wt=61025
     Region          7..183
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          201..252
                     /region_name="UBA_MELK"
                     /note="UBA domain found in maternal embryonic leucine
                     zipper kinase (MELK) and similar proteins; cd14341"
                     /db_xref="CDD:270526"
     Region          434..528
                     /region_name="MELK_C"
                     /note="C-terminal kinase associated domain 1 (KA1) of
                     Maternal embryonic leucine zipper kinase; cd12198"
                     /db_xref="CDD:213383"
     Site            order(434,437,506,508..509)
                     /site_type="other"
                     /note="putative phospholipid binding site [chemical
                     binding]"
                     /db_xref="CDD:213383"
     CDS             1..530
                     /gene="MELK"
                     /gene_synonym="HPK38"
                     /coded_by="XM_047424204.1:353..1945"
                     /db_xref="GeneID:9833"
                     /db_xref="HGNC:HGNC:16870"
                     /db_xref="MIM:607025"
ORIGIN      
        1 mmnfsnimny mkllgqsdlp rikteiealk nlrhqhicql yhvletanki fmvleenllf
       61 deyhklklid fglcakpkgn kdyhlqtccg slayaapeli qgksylgsea dvwsmgilly
      121 vlmcgflpfd ddnvmalykk imrgkydvpk wlspssilll qqmlqvdpkk rismknllnh
      181 pwimqdynyp vewqsknpfi hldddcvtel svhhrnnrqt medlislwqy dhltatylll
      241 lakkargkpv rlrlssfscg qasatpftdi kftkywtesn gvesksltpa lcrtpanklk
      301 nkenvytpks avkneeyfmf pepktpvnkn qhkreilttp nryttpskar nqclketpik
      361 ipvnstgtdk lmtgvisper rcrsveldln qahmeetpkr kgakvfgsle rgldkvitvl
      421 trskrkgsar dgprrlklhy nvtttrlvnp dqllneimsi lpkkhvdfvq kgytlkcqtq
      481 sdfgkvtmqf elevcqlqkp dvvgirrqrl kgdawvykrl vedilssckv
//
LOCUS       XP_054184645             595 aa            linear   PRI 20-MAR-2023
DEFINITION  endoplasmic reticulum membrane-associated RNA degradation protein
            isoform X2 [Homo sapiens].
ACCESSION   XP_054184645
VERSION     XP_054184645.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328670.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187552.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..595
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q27"
     Protein         1..595
                     /product="endoplasmic reticulum membrane-associated RNA
                     degradation protein isoform X2"
                     /calculated_mol_wt=67782
     CDS             1..595
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /coded_by="XM_054328670.1:37..1824"
                     /db_xref="GeneID:55780"
                     /db_xref="HGNC:HGNC:21056"
                     /db_xref="MIM:615532"
ORIGIN      
        1 mevligdpit tclspsvydi icnlgfqlre ncdinsivtq ngevcwktit dcvsyteseq
       61 gldywgsvrl lgpvceavhs hflsltkgqf eiryapwfqw tsfpelfpei fdaleslqsp
      121 aislslmklt scleralgdv flligkecpf llrdllssee laqvfsqsvm nvlkvfvgsp
      181 cglnlrnvlw hgfaspeeip pkycsmmill taglgqllks ylqntkltla hrsfisltnl
      241 edlivfpdvt yevlsvleev mmksafilki mlpywevalv kfkshrfadc aillltqlet
      301 glrnvfatln rcpkrlltae ilakhlndgk inqlplflge pameflwdfl nhqegprird
      361 hlshgeinlh efskettnql lafslvlllr fvddcllsvf keksavelli slaegyssrc
      421 hpvfqlkkqv lsceesirvw allpfpeelt rqavrledns etnachslit kmtdelyhhm
      481 penrcvlkdl drlptetirl lspvlslill lialelvnih avcgknahey qqylkfvksi
      541 lqytenlvay tsyeknkwne tinlthtall kmwtfsekkq mlihlakkst skvll
//
LOCUS       XP_054186004             533 aa            linear   PRI 20-MAR-2023
DEFINITION  myotubularin-related protein 10 isoform X4 [Homo sapiens].
ACCESSION   XP_054186004
VERSION     XP_054186004.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330029.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187660.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..533
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.1-13.3"
     Protein         1..533
                     /product="myotubularin-related protein 10 isoform X4"
                     /calculated_mol_wt=60838
     CDS             1..533
                     /gene="MTMR10"
                     /coded_by="XM_054330029.1:123..1724"
                     /db_xref="GeneID:54893"
                     /db_xref="HGNC:HGNC:25999"
ORIGIN      
        1 mfslkppkpt frsyllpppq tddkinsepk ikklepvllp geivvnevnf vrkciatdts
       61 qydlwgklic snfkisfitd dpmplqkfhy rnlllgehdv pltcieqivt vndhkrkqkv
      121 lgpnqklkfn pteliiyckd frivrfrfde sgpesakkvc laiahysqpt dlqllfafey
      181 vgkkyhnsan kingipsgdg gggggggnga gggssqktpl fetysdwdre ikrtgasgwr
      241 vcsinegymi stclpeyivv pssladqdlk ifshsfvgrr mplwcwshsn gsalvrmali
      301 kdvlqqrkid qricnaitks hpqrsdvyks dldktlpniq evqaafvklk qlcvnepfee
      361 teekwlssle ntrwleyvra flkhsaelvy mleskhlsvv lqeeegrdls ccvaslvqvm
      421 ldpyfrtitg fqsliqkewv magyqfldrc nhlkrsekes plfllfldat wqlleqypaa
      481 fefsetylav lydstrislf gtflfnsphq rvkqstvsri ksctkqdyfp srv
//
LOCUS       XP_054187059             315 aa            linear   PRI 20-MAR-2023
DEFINITION  pre-B-cell leukemia transcription factor 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054187059
VERSION     XP_054187059.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331084.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 44% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..315
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..315
                     /product="pre-B-cell leukemia transcription factor 2
                     isoform X1"
                     /calculated_mol_wt=34051
     CDS             1..315
                     /gene="PBX2"
                     /gene_synonym="G17; HOX12; PBX2MHC"
                     /coded_by="XM_054331084.1:559..1506"
                     /db_xref="GeneID:5089"
                     /db_xref="HGNC:HGNC:8633"
                     /db_xref="MIM:176311"
ORIGIN      
        1 mrldnmllae gvagpekggg saaaaaaaaa sgggvspdns iehsdyrskl aqirhiyhse
       61 lekyeqacne ftthvmnllr eqsrtrpvap kemermvsii hrkfsaiqmq lkqstceavm
      121 ilrsrfldar rkrrnfskqa tevlneyfys hlsnpypsee akeelakkcg itvsqvsnwf
      181 gnkrirykkn igkfqeeani yavktavsvt qgghsrtssp tppssagsgg sfnlsgsgdm
      241 flgmpglngd sysasqvesl rhsmgpggyg dnlgggqmys premrangsw qeavtpssvt
      301 sptegpgsvh sdtsn
//
LOCUS       XP_054187876             575 aa            linear   PRI 20-MAR-2023
DEFINITION  CBP80/20-dependent translation initiation factor isoform X5 [Homo
            sapiens].
ACCESSION   XP_054187876
VERSION     XP_054187876.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331901.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_013171814.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..575
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     Protein         1..575
                     /product="CBP80/20-dependent translation initiation factor
                     isoform X5"
                     /calculated_mol_wt=65262
     CDS             1..575
                     /gene="CTIF"
                     /gene_synonym="Gm672; KIAA0427"
                     /coded_by="XM_054331901.1:564..2291"
                     /db_xref="GeneID:9811"
                     /db_xref="HGNC:HGNC:23925"
                     /db_xref="MIM:613178"
ORIGIN      
        1 madaavyafc tcllvsighi svclylgvnf wvirrahvql rwmwkycfke cddgnqiagn
       61 gskdnsldml gtdiwaantf dsfsgatwdl qpekldftqf hrkvrhtpkq plphidregc
      121 gkgkledgdg inlndiekvl pawqgyhpmp heveiahtkk lfrrrrndrr rqqrppggnk
      181 pqqhgdhqpg sakhnrdhqk syqggsaphp sgrpthhgys qnrrwhhgnm khppgdkgea
      241 gahrnaketm tienpkledt agdtghssle aprspdtlap vaserlppqq sggpevetkr
      301 kdsilperig erpkitllqs skdrlrrrlk ekvpdevave tttpqqnkmd klieilnsmr
      361 nnssdvdtkl ttfmeeaqns tnseemlgei vrtiyqkavs drsfaftaak lcdkmalfmv
      421 egtkfrslll nmlqkdftvr eelqqqdver wlgfitflce vfgtmrsstg epfrvlvcpi
      481 ytclrellqs qdvkedavlc csmelqstgr lleeqlpemm tellasardk mlcpsesmlt
      541 rsllleviel hanswnpltp pitqyynrti qklta
//
LOCUS       XP_054190756             808 aa            linear   PRI 20-MAR-2023
DEFINITION  probable ATP-dependent DNA helicase HFM1 isoform X15 [Homo
            sapiens].
ACCESSION   XP_054190756
VERSION     XP_054190756.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334781.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..808
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..808
                     /product="probable ATP-dependent DNA helicase HFM1 isoform
                     X15"
                     /calculated_mol_wt=90816
     CDS             1..808
                     /gene="HFM1"
                     /gene_synonym="helicase; MER3; POF9; SEC63D1; Si-11;
                     Si-11-6"
                     /coded_by="XM_054334781.1:184..2610"
                     /db_xref="GeneID:164045"
                     /db_xref="HGNC:HGNC:20193"
                     /db_xref="MIM:615684"
ORIGIN      
        1 mlksndclfs lenlffekpd evenhpdnek sldwflppap liseipdtqe leeeleshkl
       61 lgqekrpkml tsnlkitned tnyisltqkf qfafpsdkye qddlnlegvg nndlphvagk
      121 ltyasqkykn higteiapek svpddtklvn faedkgests vfrkrlfkis dnihgsaysn
      181 dneldshigs vkivqtemnk gksrnysnsk qkfqysanvf tannafsase igegmfkaps
      241 fsvafqphdi qevtenglgs lkavteipak frsifkefpy fnyiqskafd dllytdrnfv
      301 icaptgsgkt vvfelaitrl lmevplpwln ikivymapik alcsqrfddw kekfgpigln
      361 ckeltgdtvm ddlfeiqhah iimttpekwd smtrkwrdns lvqlvrlfli devhivkden
      421 rgptlevvvs rmktvqsvsq tlkntstaip mrfvavsati pnaediaewl sdgerpavcl
      481 kmdeshrpvk lqkvvlgfpc ssnqtefkfd ltlnykiasv iqmysdqkpt lvfcatrkgv
      541 qqaasvlvkd akfimtveqk qrlqkyaysv rdsklrdilk dgaayhhagm elsdrkvveg
      601 aftvgdlpvl fttstlamgv nlpahlvvik stmhyagglf eeysetdilq migragrpqf
      661 dttatavimt rlstrdkyiq mlacrdtves slhrhliehl naeivlhtit dvniavewir
      721 stllyiralk npshygfasg lnkdgieakl qelclknlnd lssldlikmd egvnfkptvs
      781 aghrvteaaa klpeasrkkg davletgl
//
LOCUS       XP_054192193             376 aa            linear   PRI 20-MAR-2023
DEFINITION  telomere zinc finger-associated protein isoform X4 [Homo sapiens].
ACCESSION   XP_054192193
VERSION     XP_054192193.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336218.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..376
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..376
                     /product="telomere zinc finger-associated protein isoform
                     X4"
                     /calculated_mol_wt=40807
     CDS             1..376
                     /gene="ZBTB48"
                     /gene_synonym="HKR3; pp9964; TZAP; ZNF855"
                     /coded_by="XM_054336218.1:213..1343"
                     /db_xref="GeneID:3104"
                     /db_xref="HGNC:HGNC:4930"
                     /db_xref="MIM:165270"
ORIGIN      
        1 mdgsfvqhsv rvlqelnkqr ekgqycdatl dvgglvfkah wsvlaccshf fqslygdgsg
       61 gsvvlpagfa eifgllldff ytghlaltsg nrdqvllaar elrvpeavel cqsfkpktsv
      121 gqaaggqsgl gppasqnvns hvkepaglee eevsrtlglv prdqeprgsh spqrpqlhsp
      181 aqsegpsslc gklkqalkpc pledkkpedc kvpprpleae gaqlqggsne wevvvqvedd
      241 gdgdymsepe avltrrksnv irkpcaaepa lsagslaaep aenrkgtavp vecptchkkf
      301 lskyylkvhn rkhtgekpfe cpkcgkcyfr kenllehear ncmnrseqrp hppqadssqq
      361 qaearaeaav igrgpr
//
LOCUS       XP_054195227            1735 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase MRCK alpha isoform X12 [Homo
            sapiens].
ACCESSION   XP_054195227
VERSION     XP_054195227.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339252.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1735
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1735
                     /product="serine/threonine-protein kinase MRCK alpha
                     isoform X12"
                     /calculated_mol_wt=197496
     CDS             1..1735
                     /gene="CDC42BPA"
                     /gene_synonym="MRCK; MRCKA; PK428"
                     /coded_by="XM_054339252.1:1313..6520"
                     /db_xref="GeneID:8476"
                     /db_xref="HGNC:HGNC:1737"
                     /db_xref="MIM:603412"
ORIGIN      
        1 msgevrlrql eqfildgpaq tngqcfsvet lldiliclyd ecnnsplrre knileylewa
       61 kpftskvkqm rlhredfeil kvigrgafge vavvklknad kvfamkilnk wemlkraeta
      121 cfreerdvlv ngdnkwittl hyafqddnnl ylvmdyyvgg dlltllskfe drlpedmarf
      181 ylaemviaid svhqlhyvhr dikpdnilmd mnghirladf gsclklmedg tvqssvavgt
      241 pdyispeilq amedgkgryg pecdwwslgv cmyemlyget pfyaeslvet ygkimnhker
      301 fqfpaqvtdv senakdlirr licsrehrlg qngiedfkkh pffsgidwdn irnceapyip
      361 evssptdtsn fdvdddclkn setmppptht afsghhlpfv gftytsscvl sdrsclrvta
      421 gptsldldvn vqrtldnnla teayerrikr leqeklelsr klqestqtvq alqystvdgp
      481 ltaskdleik nlkeeieklr kqvtesshle qqleeanavr qelddafrqi kayekqiktl
      541 qqeredlnke lvqaserlkn qskelkdahc qrklamqefm einerltelh tqkqklarhv
      601 rdkeeevdlv mqkveslrqe lrrterakke levhtealaa easkdrklre qsehyskqle
      661 neleglkqkq isyspgvcsi ehqqeitklk tdlekksify eeelskregi haneiknlkk
      721 elhdsegqql alnkeimilk dklektrres qsereefese fkqqyerekv llteenkklt
      781 seldklttly enlsihnqql eeevkdladk kesvahweaq iteiiqwvsd ekdargylqa
      841 laskmteele alrnsslgtr atdmpwkmrr fakldmsarl elqsaldaei rakqaiqeel
      901 nkvkasniit ecklkdsekk nlellseieq likdteelrs ekgiehqdsq hsflaflntp
      961 tdaldqfeds fsssssslid flddtvdstp lsvhtptlrk kgcpgstgfp pkrkthqffv
     1021 ksfttptkch qctslmvgli rqgcscevcg fschitcvnk apttcpvppe qtkgplgidp
     1081 qkgigtayeg hvripkpagv kkgwqralai vcdfklflyd iaegkasqps vvisqvidmr
     1141 deefsvssvl asdvihasrk dipcifrvta sqlsasnnkc silmladten eknkwvgvls
     1201 elhkilkknk frdrsvyvpk eaydstlpli kttqaaaiid herialgnee glfvvhvtkd
     1261 eiirvgdnkk ihqielipnd qlvavisgrn rhvrlfpmsa ldgretdfyk lsetkgcqtv
     1321 tsgkvrhgal tclcvamkrq vlcyelfqsk trhrkfkeiq vpynvqwmai fseqlcvgfq
     1381 sgflryplng egnpysmlhs ndhtlsfiah qpmdaicave isskeyllcf nsigiytdcq
     1441 grrsrqqelm wpanpssccy napylsvyse navdifdvns mewiqtlplk kvrplnnegs
     1501 lnllgletir liyfknkmae gdelvvpets dnsrkqmvrn innkrrysfr vpeeermqqr
     1561 remlrdpemr nklisnptnf nhiahmgpgd giqilkdlpm nprpqesrtv fsgsvsipsi
     1621 tksrpepgrs msassglsar ssaqngsalk refsggsysa krqpmpspse gslssggmdq
     1681 gsdapardfd gedsdsprhs tasnssnlss ppspasprkt kslslestdr gswdp
//
LOCUS       XP_054224257             469 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase pellino homolog 3 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054224257
VERSION     XP_054224257.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368282.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..469
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..469
                     /product="E3 ubiquitin-protein ligase pellino homolog 3
                     isoform X1"
                     /calculated_mol_wt=50624
     CDS             1..469
                     /gene="PELI3"
                     /coded_by="XM_054368282.1:164..1573"
                     /db_xref="GeneID:246330"
                     /db_xref="HGNC:HGNC:30010"
                     /db_xref="MIM:609827"
ORIGIN      
        1 mvlegnpevg sprtsdlqhr gnkgscvlss pgedaqpgee pikygelivl gcceeggeet
       61 eaqrgevtgp rahscyngcl asgdkgrrrs rlalsrrsha ngvkpdvmhh istplvskal
      121 snrgqhsisy tlsrshsviv eythdsdtdm fqigrstenm idfvvtdtsp gggaaegpsa
      181 qstisryacr ilcdrrppyt ariyaagfda ssniflgera akwrtpdglm dglttngvlv
      241 mhpaggfsed sapgvwreis vcgnvytlrd srsaqqrgkl venesnvlqd gslidlcgat
      301 llwrtpagll raptlkqlea qrqeanaarp qcpvglstla fpspargrta pdkqqpwvyv
      361 rcghvhgyhg wgcrrergpq erecplcrlv gpyvplwlgq eaglcldpgp pshafapcgh
      421 vcsektaryw aqtplphgth afhaacpfcg awltgehgcv rlifqgpld
//
LOCUS       XP_054226969             976 aa            linear   PRI 20-MAR-2023
DEFINITION  methyl-CpG-binding domain protein 6 isoform X3 [Homo sapiens].
ACCESSION   XP_054226969
VERSION     XP_054226969.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370994.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..976
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..976
                     /product="methyl-CpG-binding domain protein 6 isoform X3"
                     /calculated_mol_wt=98132
     CDS             1..976
                     /gene="MBD6"
                     /coded_by="XM_054370994.1:277..3207"
                     /db_xref="GeneID:114785"
                     /db_xref="HGNC:HGNC:20445"
                     /db_xref="MIM:619458"
ORIGIN      
        1 mnggnessga draggpvats vpigwqrcvr egavlyisps gtelssleqt rsyllsdgtc
       61 kcglecplnv pkvfnfdpla pvtpggagvg paseedmtkl cnhrrkavam atlyrsmett
      121 cshsspgega spqmfhtvsp gppsarppcr vppttplngg pgslppepps vsqafptlag
      181 pgglfpprla dpvpsggsss prflprgnap spapppppai slnapsynwg aalrsslvps
      241 dlgsppapha sssppsdppl fhcsdaltpp plppsnnlpa hpgpasqppv ssatmhlplv
      301 lgplggaptv egpgappfla ssllsaaaka qhpplpppst lqgrrpraqa psashssslr
      361 psqrrprrpp tvfrllegrg pqtprrsrpr apapvpqpfs lpepsqpilp svlsllglpt
      421 pgpshsdgsf nllgsdahlp ppptlssgsp pqprhpiqps lpgttsgsls svpgapappa
      481 askapvvpsp vlqspseglg mgagpacplp plaggeafpf pspeqglals gagfpgmlga
      541 lplplslgqp ppspllnhsl fgvltggggq pppepllppp ggpgpplapg epegpsllva
      601 sllppppsdl lpppsappsn llasflplla lgptagdgeg saegaggpsg epfsglgdls
      661 pllfpplsap ptlialnsal laatldppsg tppqpcvlsa pqpgpptssv ttattdpgas
      721 slgkapsnsg rppqllspll gasllgdlss ltsspgalps llqppgplls gqlglqllpg
      781 ggappplsea ssplacllqs lqqippeqpe apclppespa salepeparp plsalapphg
      841 spdppvpell tgrgsgkrgr rgggglrgin gearpargrk pgsrrepgrl alkwgtrggf
      901 ngqmersprr thhwqhngel aeggaepkdp pppgphsedl kvppgvvrks rrgrrrkykk
      961 fptqtseihl vlgscs
//
LOCUS       XP_054227598             270 aa            linear   PRI 20-MAR-2023
DEFINITION  single-strand selective monofunctional uracil DNA glycosylase
            isoform X1 [Homo sapiens].
ACCESSION   XP_054227598
VERSION     XP_054227598.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371623.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..270
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..270
                     /product="single-strand selective monofunctional uracil
                     DNA glycosylase isoform X1"
                     /calculated_mol_wt=29731
     CDS             1..270
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /coded_by="XM_054371623.1:451..1263"
                     /db_xref="GeneID:23583"
                     /db_xref="HGNC:HGNC:17148"
                     /db_xref="MIM:607753"
ORIGIN      
        1 mpqafllgsi hepagalmep qpcpgslaes fleeelrlna elsqlqfsep vgiiynpvey
       61 awephrnyvt rycqgpkevl flgmnpgpfg maqtgvpfge vsmvrdwlgi vgpvltppqe
      121 hpkrpvlgle cpqsevsgar fwgffrnlcg qpevffhhcf vhnlcpllfl apsgrnltpa
      181 elpakqreql lgicdaalcr qvqllgvrlv vgvgrlaeqr arralaglmp evqvegllhp
      241 sprnpqankg weavakerln elgllplllk
//
LOCUS       XP_054230514            1549 aa            linear   PRI 20-MAR-2023
DEFINITION  LIM domain only protein 7 isoform X19 [Homo sapiens].
ACCESSION   XP_054230514
VERSION     XP_054230514.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374539.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1549
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1549
                     /product="LIM domain only protein 7 isoform X19"
                     /calculated_mol_wt=176858
     CDS             1..1549
                     /gene="LMO7"
                     /gene_synonym="FBX20; FBXO20; LMO7b; LOMP"
                     /coded_by="XM_054374539.1:18..4667"
                     /db_xref="GeneID:4008"
                     /db_xref="HGNC:HGNC:6646"
                     /db_xref="MIM:604362"
ORIGIN      
        1 mpghkiarlc mlwrterlyk pyvfffkyty awvlllplll tdninvflka ceqiglkeaq
       61 lfhpgdlqdl snrvtvkqee tdrrvknvli tlywlgrkaq snpyyngphl nlkafenllg
      121 qaltkaleds sflkrsgrds gygdiwcper geflapprhh kredsfesld slgsrsltsc
      181 ssditlrggr egfesdtdse ftfkmqdynk ddmsyrrisa vepktalpfn rflpnksrqp
      241 syvpaplrkk kpdkhednrr swaspvytea dgtfssqfll lqalqtysdd ilssethtki
      301 dptsgprlit rrknlsyapg yrrddlemaa ldpdlenddf fvrktgafha npyvlrafed
      361 frkfseqdds verdiilqcr egelvlpdle kddmivrrip aqkkevplsg apdryhpvpf
      421 pepwtlppei qakflcvler tcpskeksns crilvpsyrq kkddmltrki qswklgttvp
      481 pisftpgpcs eadlkrweai reasrlrhkk rlmverlfqk iygengsksm sdvsaedvqn
      541 lrqlryeemq kiksqlkeqd qkwqddlakw kdrrksytsd lqkkkeeree iekqaleksk
      601 rssktfkeml qdresqnqks tvpsrrrmys fddvleegkr pptmtvseas yqserveekg
      661 atypseipke dsttfakred rvtteiqlps qspveeqspa slsslrsrst qmestrvsas
      721 lprsyrktdt vrltsvvtpr pfgsqtrgis slprsytmdd awkyngdved ikrtpnnvvs
      781 tpapspdasq lasslssqke vaateedvtr lpsptspfss lsqdqaatsk atlsstsgld
      841 lmsesgegei spqrevsrsq dqfsdmrisi nqtpgksldf gftikwdipg ifvasveags
      901 paefsqlqvd deiiainntk fsyndskewe eamakaqetg hlvmdvrryg kadwgkdqps
      961 lpfirhktln ltsmatkiig spetkwidat sgiynsekss nlsvttdfse slqssniesk
     1021 eingihdesn afeskasesi slknlkrrsq ffeqgssgfs ysswvylcgs sdsvvpdlpv
     1081 ptisapsrwv wdqeeerkrq erwqkeqdrl lqekyqreqe klreewqrak qeaerensky
     1141 ldeelmvlss nsmslttrep slatweatws egskssdreg trageeerrq pqeevvhedq
     1201 gkkpqdqlvi ererkweqql qeeqeqkrlq aeaeeqkrpa eeqkrqaeie retsvriyqy
     1261 rrpvdsydip kteeassgfl pgdrnksrst telddystnk ngnnkyldqi gnmtssqrrs
     1321 kkeqvpsgae lerqqilqem rkrtplhndn swirqrsasv nkepvslpgi mrrgesldnl
     1381 dsprsnswrq ppwlnqptgf yasssvqdfs rpppqlvsts nraymrnpss svpppsagsv
     1441 ktsttgvatt qsptprshsp sasqsgsqlr nrsvsgkric sycnnilgkg aamiieslgl
     1501 cyhlhcfkcv acecdlggss sgaevrirnh qlycndcylr fksgrptam
//
LOCUS       XP_054233221            1031 aa            linear   PRI 20-MAR-2023
DEFINITION  gamma-tubulin complex component 5 isoform X2 [Homo sapiens].
ACCESSION   XP_054233221
VERSION     XP_054233221.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377246.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1031
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1031
                     /product="gamma-tubulin complex component 5 isoform X2"
                     /calculated_mol_wt=118953
     CDS             1..1031
                     /gene="TUBGCP5"
                     /gene_synonym="GCP5"
                     /coded_by="XM_054377246.1:27..3122"
                     /db_xref="GeneID:114791"
                     /db_xref="HGNC:HGNC:18600"
                     /db_xref="MIM:608147"
ORIGIN      
        1 marhgppwsr ldaqqerdvr elvrgvaglq deadpnfqla lnfawsnfrf hrfldvnshk
       61 iektiegiye kfvihsdlsk aaswkrltee flnaplpsik eiktdahysi lslllclsds
      121 psnssyvetp rnkevekkdd fdwgkylmed eemdigpymd tpnwseesee endqqplsre
      181 dsgiqvdrtp leeqdqnrkl dpciswkade pddrswlehh vvhqywtarp sqfphslhlh
      241 snlaavwdqh lyssdplyvp ddrvlvtetq viretlwlls gvkklfifql idgkvtvrnn
      301 iivthlthsc lrsvleqiaa ygqvvfrlqe fidevmghss esmlpgsgsv pkksteapfr
      361 tyqafmwaly kyfisfkeel aeiekciinn dttitlaivv dklaprlsql kvlhkvfstg
      421 vaevppdtrn vvrashllnt lykaileydn vgeaseqtvs llfslwvetv rpylqtvdew
      481 ivhghlwdga refiiqrnkn vpvnhrdfwy atytlysvse kteneekmsd nasassgsdq
      541 gpssrqhtmv sflkpvlkqi imagksmqll knlqcaestt cqagardaer kslytlfles
      601 vqsrlrhged stpqvlteqq atkenlmkmq siaeshleld dvhdpllain farmyleqsd
      661 fhekfaggdv cvdrssesvt cqtfeltlrs clyphidkqy ldccgnlmqt lkkdyrlvey
      721 lqamrnfflm eggdtmydfy tsifdkirek etwqnvsfln vqlqeavgqr ypedssrlsi
      781 sfenvdtakk klpvhildgl tlsykvpwpv divislecqk iynqvfllll qikwakysld
      841 vllfgelvst aekprlkegl iheqdtvaqf gpqkepvrqq ihrmfllrvk lmhfvnslhn
      901 yimtrilhst glefqhqvee akdldqliki hyrylstihd rcllrekvsf vkeaimkvln
      961 lalmfadgwq aglgtwrmes iekmesdfkn chmflvtiln kavcrgsfph wlpvvcirrw
     1021 sllstgglgg t
//
LOCUS       XP_054233314             239 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane and coiled-coil domain-containing protein 5A isoform
            X1 [Homo sapiens].
ACCESSION   XP_054233314
VERSION     XP_054233314.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377339.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..239
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..239
                     /product="transmembrane and coiled-coil domain-containing
                     protein 5A isoform X1"
                     /calculated_mol_wt=27904
     CDS             1..239
                     /gene="TMCO5A"
                     /gene_synonym="TMCO5"
                     /coded_by="XM_054377339.1:158..877"
                     /db_xref="GeneID:145942"
                     /db_xref="HGNC:HGNC:28558"
ORIGIN      
        1 meisrlaqsk rniislnmdl erdtqridea nqklllkiqe redkiqrles eiiqtrglve
       61 deewekenrt tmereralqe leeetarler knktlvhsit elqqkltrks qkitnceqss
      121 pdgaleetkv klqqleasya cqekellkvm keyafvtqlc edqalyikky qetlkkieee
      181 lealflerev sklvsmnpve kehtsqnneg tptqktarlf skklsardep evsassqvf
//
LOCUS       XP_054234205             639 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase MINDY-2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054234205
VERSION     XP_054234205.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378230.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..639
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..639
                     /product="ubiquitin carboxyl-terminal hydrolase MINDY-2
                     isoform X1"
                     /calculated_mol_wt=69073
     CDS             1..639
                     /gene="MINDY2"
                     /gene_synonym="FAM63B"
                     /coded_by="XM_054378230.1:95..2014"
                     /db_xref="GeneID:54629"
                     /db_xref="HGNC:HGNC:26954"
                     /db_xref="MIM:618408"
ORIGIN      
        1 messpeslqp lehgvaagpa sgtgssqegl qetrlaagdg pgvwaaetsg gnglgaaaar
       61 rslpdsaspa gspevpgpcs ssagldlkds glespaaaea plrgqykvta spetavagvg
      121 helgtagdag arpdlagtcq aeltaagsee pssagglsss csdpsppges psldslesfs
      181 nlhsfpssce fnseegaenr vpeeeegaav lpgavplcke eegeetaqvl aaskerfpgq
      241 svyhikwiqw keentpiitq nengpcplla ilnvlllawk vklppmmeii taeqlmeylg
      301 dymldakpke iseiqrlnye qihhccrfkk ssktlkgknn msdamailhk lqtgldvnvr
      361 ftgvrvfeyt pecivfdlld iplyhgwlvd pqiddivkav gncsynqlve kiisckqsdn
      421 selvsegfva eqflnntatq ltyhglcelt stvqegelcv ffrnnhfstm tkykgqlyll
      481 vtdqgfltee kvvweslhnv dgdgnfcdse fhlrppsdpe tvykgqqdqi dqdylmalsl
      541 qqeqqsqein weqipegisd lelakklqee edrrasqyyq eqeqaaaaaa aastqaqqgq
      601 paqaspssgr qsgnserkrk eprekdkeke keknscvil
//
LOCUS       XP_054235495             166 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF166 isoform X5 [Homo sapiens].
ACCESSION   XP_054235495
VERSION     XP_054235495.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379520.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..166
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..166
                     /product="E3 ubiquitin-protein ligase RNF166 isoform X5"
                     /calculated_mol_wt=18456
     CDS             1..166
                     /gene="RNF166"
                     /coded_by="XM_054379520.1:217..717"
                     /db_xref="GeneID:115992"
                     /db_xref="HGNC:HGNC:28856"
                     /db_xref="MIM:617178"
ORIGIN      
        1 mrvhissclk vqeqmancpk fvpvvptsqp ipsnipnrst facpycgarn ldqqelvkhc
       61 veshrsdpnr vvcpicsamp wgdpsyksan flqhllhrhk fsydtfvaht wppglqtlaq
      121 tphswcgpsl rrpvhswpwl tvlamavtps asrpgptlrl pqdgnc
//
LOCUS       XP_054172690             468 aa            linear   PRI 20-MAR-2023
DEFINITION  plexin domain-containing protein 1 isoform X5 [Homo sapiens].
ACCESSION   XP_054172690
VERSION     XP_054172690.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316715.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..468
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..468
                     /product="plexin domain-containing protein 1 isoform X5"
                     /calculated_mol_wt=51838
     CDS             1..468
                     /gene="PLXDC1"
                     /gene_synonym="TEM3; TEM7"
                     /coded_by="XM_054316715.1:201..1607"
                     /db_xref="GeneID:57125"
                     /db_xref="HGNC:HGNC:20945"
                     /db_xref="MIM:606826"
ORIGIN      
        1 mrgelwllvl vlreaarals pqpgaghdeg pgsgwaakgt vrgwnrrare spghvsepdr
       61 tqlsqdlggg tlamdtlpdn rtrvvednhs yyvsrlygps ephsrelwvd vaeanrsqvk
      121 ihtilsnthr qasrvvlsfd fpfyghplrq itiatggfif mgdvihrmlt atqyvaplma
      181 nfnpgysdns tvvyfdngtv fvvqwdhvyl qgwedkgsft fqaalhhdgr ivfaykeipm
      241 svpeisssqh pvktglsdaf milnpspdvp aclqhrscda cmssdltfnc swchvlqrcs
      301 sgfdryrqew mdygcaqeae grmcedfqde dhdsaspdts fspydgdltt tssslfidsl
      361 tteddtklnp yaggdglqnn lspktkgtpv hlgtivgivl avllvaaiil agiyinghpt
      421 snaalffier rphhwpamkf rshpdhstya evepsgheke gfmeaeqc
//
LOCUS       XP_054174535            1525 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 30B isoform X6 [Homo
            sapiens].
ACCESSION   XP_054174535
VERSION     XP_054174535.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318560.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1525
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1525
                     /product="ankyrin repeat domain-containing protein 30B
                     isoform X6"
                     /calculated_mol_wt=172882
     CDS             1..1525
                     /gene="ANKRD30B"
                     /gene_synonym="NY-BR-1.1"
                     /coded_by="XM_054318560.1:249..4826"
                     /db_xref="GeneID:374860"
                     /db_xref="HGNC:HGNC:24165"
                     /db_xref="MIM:616565"
ORIGIN      
        1 mkrllaaagk gvrgpeppnp fservytekd ygtiyfgdlg kihtaasrgq vqklekmtvg
       61 kkpvnlnkrd mkkrtalhwa cvnghaevvt flvdrkcqln vldgegrtpl mkalqcerea
      121 canilidaga dlnyvdvygn talhyavyse nllmvatlls ygavievqnk asltplllai
      181 qkrskqtvef lltknanana fneskctalm laicegssei vgmllqqnvd vfaedihgit
      241 aeryaaacgv nyihqqlleh irklpknpqn tnpegtstgt pdeaaplaer tpdtaeslle
      301 ktpdeaarlv egtsakiqcl gkatsgkfeq steetprkil rptketsekf swpakersrk
      361 itweeketsv ktecvagvtp nktevlekgt snmiacptke tstkastnvd vssvepifsl
      421 fgtrtiensq ctkveedfnl atkiisksaa qnytclpdat yqkdiktinh kiedqmlpse
      481 skreedeeys wdsgslfess aktqvcipes myqkvmeinr eveelpekps afkpavemqk
      541 tvpnkafelk neqtlraaqm fpseskqkdd eenswdsesp cetvsqkdvy lpkathqkef
      601 dtlsgklees pvkdgllkpt cgrkvslpnk alelkdretf kaespdkdgl lkptcgrkvs
      661 lpnkalelkd retlkaespd ndgllkptcg rkvslpnkal elkdretfka aqmfpseskq
      721 kddeenswdf esfleallqn dvclpkathq kefdtlsgkl eespdkdgll kptcgrkvsl
      781 pnkalelkdr etlkaespdk dgllkptcvr kvslpnkale lkdretlkaa qmfpseskqk
      841 ddeenswdfe sfletllqnd vclpkathqk efdtlsgkle espdkdgllk ptcgmkislp
      901 nkalelkdre tfkaedvssv estfslfgkp ttensqstkv eedfnlttke gatktvtgqq
      961 erdigiiera pqdqtnkmpt selgrkedtk stsdseiisv sdtqnyeclp eatyqkeikt
     1021 tngkieespe kpshfepate mqnsvpnkgl ewknkqtlra dsttlskild alpscergre
     1081 lkkdnceqit akmeqtknkf cvlqkelsea keiksqlenq kakweqelcs vrltlnqeee
     1141 krrnvdilke kirpeeqlrk klevkqqleq tlriqdielk svtsnlnqvs hthesendlf
     1201 hencmlkkei amlklevatl khqhqvkenk yfedikilqe knaelqmtlk lkqktvtkra
     1261 sqyreqlkvl taentmltsk lkekqdkeil eteieshhpr lasalqdhdq svtsrknqel
     1321 afhsagdapl qgimnvdvsn tiynnevlhq plyeaqrksk spkinlnyag ddlrenalvs
     1381 ehaqrdrcet qcqmkkaehm yqneqdnvdk hteqqesleq klfqlesknr wlrqqlvyah
     1441 kkvnkskvti niqfpemkmq rhlkekneev fnygnhlker idqyekekae revivrqlqk
     1501 kladlnkqce aslkvtshsh slrhq
//
LOCUS       XP_054199356             466 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 31 isoform X3 [Homo sapiens].
ACCESSION   XP_054199356
VERSION     XP_054199356.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343381.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..466
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..466
                     /product="tetratricopeptide repeat protein 31 isoform X3"
                     /calculated_mol_wt=51210
     CDS             1..466
                     /gene="TTC31"
                     /coded_by="XM_054343381.1:186..1586"
                     /db_xref="GeneID:64427"
                     /db_xref="HGNC:HGNC:25759"
ORIGIN      
        1 mplrildyll ghlddegkst gqsdrgkgae glgtycglrk sflyppqese pcpqspsasa
       61 tfpsvsdsll qvampqkllv teeeanrlae elvaeeermk qkaekkrlkk krqkerkrqe
      121 rleqycgepk asttsdgdes ppsspgnpvq gqcgeeedsl dlsstfvsla lrkvgdwpls
      181 arrekglnqe pqgrglalqk mgqeeesppr eerpqqspke kdlgrlrpqd lldfapypqa
      241 spgllaaalq qsqelaklgt sfaqngfyhe avvlftqalk lnpqdhrlfg nrsfcherlg
      301 qpawaladaq valtlrpgwp rglfrlgkal mglqrfreaa avfqetlrgg sqpdaarelr
      361 scllhltlqg qrggicappl spgalqplph aelapsglps lrcprstalr spglspllhy
      421 pschrshpnq plsqtqsrrp hplkpqdpsk gwdilglglq hlsqar
//
LOCUS       XP_054200228            1187 aa            linear   PRI 20-MAR-2023
DEFINITION  diacylglycerol kinase delta isoform X3 [Homo sapiens].
ACCESSION   XP_054200228
VERSION     XP_054200228.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344253.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1187
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1187
                     /product="diacylglycerol kinase delta isoform X3"
                     /calculated_mol_wt=130882
     CDS             1..1187
                     /gene="DGKD"
                     /gene_synonym="DGK-delta; dgkd-2; DGKdelta"
                     /coded_by="XM_054344253.1:26..3589"
                     /db_xref="GeneID:8527"
                     /db_xref="HGNC:HGNC:2851"
                     /db_xref="MIM:601826"
ORIGIN      
        1 maaaagappp gppqpppppp peessdsepe aepgspqkli rkvstsgqir qktiikegml
       61 tkqnnsfqrs krryfklrgr tlyyaktaks iifdevdltd asvaesstkn vnnsftvitp
      121 crklilcadn rkemedwiaa lktvqnrehf eptqysmdhf sgmhnwyacs harptycnvc
      181 realsgvtsh glscevckfk ahkrcavrat nnckwttlas igkdiiedad giamphqwle
      241 gnlpvsakct vcdktcgsvl rlqdwrclwc kamvhtscke slltkcplgl ckvsvippta
      301 lnsidsdgfw kascppscts pllvfvnsks gdnqgvkflr rfkqllnpaq vfdlmnggph
      361 lglrlfqkfd tfrilvcggd gsvgwvlsei dslnlhkqcq lgvlplgtgn dlarvlgwgs
      421 acdddtqlpq ileklerast kmldrwsvma yeaklprqas sstvtedfse dsevqqilfy
      481 edsvaahlsk iltsdqhsvv issakvlcet vkdfvarvgk ayekttesse esevmakkcs
      541 vlkekldsll ktlddesqas sslpnpppti aeeaedgdgs gsicgstgdr lvasacparp
      601 qifrpreqlm lranslkkai rqiiehteka vdeqnaqtqe qegfvlglse seekmdhrvc
      661 pplshsesfg vpkgrsqrkv skspceklis kgslslgssa slppqpgsrd glpalntkil
      721 ypnvragmsg slpggsvisr llinadpfns epetleyyte kcvmnnyfgi gldakisldf
      781 nnkrdehpek crsrtknmmw ygvlgtkell hrtyknleqk vllecdgrpi plpslqgiav
      841 lnipsyaggt nfwggtkedd tfaapsfddk ilevvavfgs mqmavsrvir lqhhriaqcr
      901 tvkisilgde gvpvqvdgea wvqppgyiri vhknraqtlt rdrafestlk swedkqkcel
      961 prppscslhp emlseeeatq mdqfgqaagv lihsireiaq shrdmeqela havnassksm
     1021 drvygkprtt eglncsfvle mvnnfralrs etelllsgkm alqldppqke qlgsalaemd
     1081 rqlrrladtp wlcqsaepgd eesvmldlak rsrsgkfrlv tkfkkeknnk nkeahsslga
     1141 pgpgrdqggp heedpvwhqg aepqrprrrg lasvlsacgl hipaaea
//
LOCUS       XP_054181409             337 aa            linear   PRI 20-MAR-2023
DEFINITION  apolipoprotein L2 isoform X1 [Homo sapiens].
ACCESSION   XP_054181409
VERSION     XP_054181409.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325434.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..337
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..337
                     /product="apolipoprotein L2 isoform X1"
                     /calculated_mol_wt=36947
     CDS             1..337
                     /gene="APOL2"
                     /gene_synonym="APOL-II; APOL3"
                     /coded_by="XM_054325434.1:433..1446"
                     /db_xref="GeneID:23780"
                     /db_xref="HGNC:HGNC:619"
                     /db_xref="MIM:607252"
ORIGIN      
        1 mnpessifie dylkyfqdqv srenllqllt ddeawngfva aaelprdead elrkalnkla
       61 shmvmkdknr hdkdqqhrqw flkefprlkr eledhirklr alaeeveqvh rgttianvvs
      121 nsvgttsgil tllglglapf tegisfvlld tgmglgaaaa vagitcsvve lvnklraraq
      181 arnldqsgtn vakvmkefvg gntpnvltlv dnwyqvtqgi grnirairra ranpqlgaya
      241 ppphvigris aeggeqverv vegpaqamsr gtmivgaatg gilllldvvs layeskhlle
      301 gaksesaeel kkraqelegk lnfltkihem lqpgqdq
//
LOCUS       XP_054182093             388 aa            linear   PRI 20-MAR-2023
DEFINITION  P2X purinoceptor 6 isoform X8 [Homo sapiens].
ACCESSION   XP_054182093
VERSION     XP_054182093.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326118.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..388
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..388
                     /product="P2X purinoceptor 6 isoform X8"
                     /calculated_mol_wt=42451
     CDS             1..388
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /coded_by="XM_054326118.1:84..1250"
                     /db_xref="GeneID:9127"
                     /db_xref="HGNC:HGNC:8538"
                     /db_xref="MIM:608077"
ORIGIN      
        1 mprgvktgqc vvfngthrtc eiwswcpves gvvpsrplla qaqnftlfik ntvtfskfnf
       61 sksnaletwd ptyfkhcrye pqfspycpvf higdlvakag gtfedlallg gsvgirvhwd
      121 cdldtgdsgc wphysfqlqe ksynfrtath wweqpgvear tllklygirf dilvtgqvgt
      181 grevrahphg rhtghrgsla grgecehcgh lqaavsaadq gvsnacwslr clhiesrgag
      241 wgggrragsg agtwvgpasp rspfsvtcyc cmwiekpist ggqsmrrprp rkqpptlcgg
      301 swplhpkpdw psasdgaqhl hprplllgvr hrhqdgpvqv ltptcqpipg acsrsllves
      361 wglgragpcl gisrmrpqhg glgvefhp
//
LOCUS       XP_054201770            1467 aa            linear   PRI 20-MAR-2023
DEFINITION  plexin-D1 isoform X4 [Homo sapiens].
ACCESSION   XP_054201770
VERSION     XP_054201770.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345795.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1467
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1467
                     /product="plexin-D1 isoform X4"
                     /calculated_mol_wt=158534
     CDS             1..1467
                     /gene="PLXND1"
                     /gene_synonym="PLEXD1"
                     /coded_by="XM_054345795.1:38..4441"
                     /db_xref="GeneID:23129"
                     /db_xref="HGNC:HGNC:9107"
                     /db_xref="MIM:604282"
ORIGIN      
        1 mapraaggap lsaraaaasp ppfqtpprcp vplllllllg aaragaleiq rrfpsptptn
       61 nfaldgaagt vylaavnrly qlsganlsle aeaavgpvpd splchapqlp qascehprrl
      121 tdnynkilql dpgqglvvvc gsiyqgfcql rrrgnisava vrfppaappa epvtvfpsml
      181 nvaanhpnas tvglvlppaa gaggsrllvg atytgygssf fprnrsledh rfentpeiai
      241 rsldtrgdla klftfdlnps ddnilkikqg akeqhklgfv saflhpsdpp pgaqsyayla
      301 lnsearagdk esqarsllar iclphgaggd akkltesyiq lglqcaggag rgdlysrlvs
      361 vfparerlfa vferpqgspa araapaalca frfadvraai raartacfve papdvvavld
      421 svvqgtgpac erklniqlqp eqldcgaahl qhplsilqpl katpvfrapg ltsvavasvn
      481 nytavflgtv ngrllkinln esmqvvsrrv vtvaygepvh hvmqfdpads gylylmtshq
      541 marvkvaacn vhstcgdcvg aadaycgwca letrctlqqd ctnssqqhfw tsasegpsrc
      601 pamtvlpsei dvrqeypgmi lqisgslpsl sgmemacdyg nnirtvarvp gpafghqiay
      661 cnllprdqfp pfppnqdhvt vemsvrvngr nivkanftiy dcsrtaqvyp htactsclsa
      721 qwpcfwcsqq hscvsnqsrc easpnptspq dcprtllspl apvptggsqn ilvplantaf
      781 fqgaalecsf gleeifeavw vnesvvrcdq vvlhttrksq vfplslqlkg rparfldspe
      841 pmtvmvynca mgspdcsqcl gredlghlcv wsdgcrlrgp lqpmagtcpa peiraiepls
      901 gpldggtllt irgrnlgrrl sdvahgvwig gvaceplpdr ytvseeivcv tgpapgplsg
      961 vvtvnaskeg ksrdrfsyvl plvhsleptm gpkaggtrit ihgndlhvgs elqvlvndtd
     1021 pctelmrtdt siactmpega lpapvpvcvr ferrgcvhgn ltfwymqnpv itaisprrsp
     1081 vsggrtitva gerfhmvqnv smavhhigre ptlckvlnst litcpspgal snasapvdff
     1141 ingrayadev avaeelldpe eaqrgsrfrl dylpnpqfst akrekwikhh pgepltlvih
     1201 keqdslglqs heyrvkigqv scdiqivsdr iihcsvnesl gaavgqlpit iqvgnfnqti
     1261 atlqlggset aiivsivics vllllsvval fvfctksrra erywqktllq meemesqire
     1321 eirkgfaelq tdmtdltkel nrsqgipfle ykhfvtrtff pkcsslyeer yvlpsqtlns
     1381 qgssqaqeth pllgewkipe scrpnmeegi svfssllnnk hflivfvhal eqqkdfavqp
     1441 glaadhraar qagvlhqhhe gaaggph
//
LOCUS       XP_054202421             373 aa            linear   PRI 20-MAR-2023
DEFINITION  cilia- and flagella-associated protein 100 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054202421
VERSION     XP_054202421.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346446.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..373
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..373
                     /product="cilia- and flagella-associated protein 100
                     isoform X5"
                     /calculated_mol_wt=42637
     CDS             1..373
                     /gene="CFAP100"
                     /gene_synonym="CCDC37; MIA1"
                     /coded_by="XM_054346446.1:235..1356"
                     /db_xref="GeneID:348807"
                     /db_xref="HGNC:HGNC:26842"
ORIGIN      
        1 mseipstivs knmtndknsl esmnisssss teenpkkqar kneehgpdps anpfhlsgdv
       61 dffllrdqer nkalserqqq ktmrvhqkmt ysskvsakht slrrqlqled kqedlearae
      121 aehqrafrdy ttwkltltke knvepenmsg yikqkrqmfl lqyaldvkrr eiqrletlat
      181 keearlerae kslekdaalf defvrendcs svqamraaek etkakiekil eirdlttqiv
      241 nikseisrfe dtlkhykvyk dflyklspke wleeqekkhs flkkakevse askessvnst
      301 pgdkgpgikg kassmwakeg qgtkkpwrfl qtmrlgrsps ylsspqqgsq psessggdsr
      361 gwvaptsash gpn
//
LOCUS       XP_054205216             626 aa            linear   PRI 20-MAR-2023
DEFINITION  coagulation factor XI isoform X1 [Homo sapiens].
ACCESSION   XP_054205216
VERSION     XP_054205216.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349241.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..626
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..626
                     /product="coagulation factor XI isoform X1"
                     /calculated_mol_wt=70120
     CDS             1..626
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /coded_by="XM_054349241.1:109..1989"
                     /db_xref="GeneID:2160"
                     /db_xref="HGNC:HGNC:3529"
                     /db_xref="MIM:264900"
ORIGIN      
        1 miflyqvvhf ilftsvsgec vtqllkdtcf eggdittvft psakycqvvc tyhprcllft
       61 ftaespsedp trwftcvlkd svtetlprvn rtaaisgysf kqcshqisac nkdiyvdldm
      121 kginynssva ksaqecqerc tddvhchfft yatrqfpsle hrnicllkht qtgtptritk
      181 ldkvvsgfsl kscalsnlac irdifpntvf adsnidsvma pdafvcgric thhpgclfft
      241 ffsqewpkes qrnlcllkts esglpstrik kskalsgfsl qscrhsipvf chssfyhdtd
      301 flgeeldiva aksheacqkl ctnavrcqff tytpaqascn egnrgkcylk lssngsptki
      361 lhgrggisgy tlrlckmdne cttkikpriv ggtasvrgew pwqvtlhtts ptqrhlcggs
      421 iignqwilta ahcfygvesp kilrvysgil nqseikedts ffgvqeiiih dqykmaesgy
      481 diallklett vnytdsqrpi clpskgdrnv iytdcwvtgw gyrklrdkiq ntlqkakipl
      541 vtneecqkry rghkithkmi cagyreggkd ackgdsggpl sckhnevwhl vgitswgegc
      601 aqrerpgvyt nvveyvdwil ektqav
//
LOCUS       XP_054205403            1627 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 131-like isoform X13 [Homo sapiens].
ACCESSION   XP_054205403
VERSION     XP_054205403.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349428.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1627
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1627
                     /product="transmembrane protein 131-like isoform X13"
                     /calculated_mol_wt=181326
     CDS             1..1627
                     /gene="TMEM131L"
                     /gene_synonym="KIAA0922"
                     /coded_by="XM_054349428.1:39..4922"
                     /db_xref="GeneID:23240"
                     /db_xref="HGNC:HGNC:29146"
                     /db_xref="MIM:616243"
ORIGIN      
        1 maglrrpqpg cycrtaaavn lllgvfqvll pccrpggaqg qaieplpnvv elwqaeegel
       61 llptqgdsee gleepsqeqs fsdklfsgkg lhfqpsvldf giqflghpva kilhaynpsr
      121 dsevvvnsvf aaaghfhvpp vpcrvipamg ktsfriiflp teegsiessl fintssygvl
      181 syhvsgigtr ristegsakq lpnayfllpk vqsiqlsqmq aettntsllq vqlecslhnk
      241 vcqqlkgcyl esddvlrlqm simvtmenfs kefeentqhl ldhlsivyva tdesetsdds
      301 avnmyilhsg nsliwiqdir hfsqrdalsl qfepvllpts ttnftkiasf tckatscdsg
      361 iiedvkktth tptlkaclfs svaqgyfrmd ssatqfhiet hentsglwsi wyrnhfdrsv
      421 vlndvflske tkhmlkilnf tgplflppgc wnifslklav kdiainlftn vflttnigai
      481 faiplqiysa ptkegslgfe viahcgmhyf mgkskagnpn wngslsldqs twnvdselan
      541 klyerwkkyk ngdvckrnvl gttrfahlkk skesesfvff lprliaepgl mlnfsatalr
      601 srmvkyfvvq npsswpvslq llplslypkp ealvhllhrw fgtdtqminf ttgefqltea
      661 cpylgthsee srfgilhlhl qplemkrvgv vftpadygkv tslilirnnl tvidmigveg
      721 fgarellkvg grlpgaggsl rfkvpestlm dcrrqlkdsk qilsitknfk venigplpit
      781 vsslkingyn cqgygfevld chqfsldpnt srdisivftp dftsswvird lslvtaadle
      841 frftlnvtlp hhllplcadv vpgpsweesf wrltvffvsl sllgviliaf qqaqyilmef
      901 mktrqrqnas sssqqnngpm dvisphsyks ncknfldtyg psdkgrgknc lpvntpqsri
      961 qnaakrspat yghsqkkhkc svyyskhkts taaasststt teekqtsplg sslpaakedi
     1021 ctdamrenwi slryasginv nlqknltlpk nllnkeentl kntivfsnps secsmkegiq
     1081 tcmfpketdi ktsentaefk erelcplkts kklpenhlpr nspqyhqpdl peisrknngn
     1141 nqqvpvknev dhcenlkkvd tkpssekkih ktsredmfse kqdipfveqe dpyrkkklqe
     1201 kregnlqnln wsksrtcrkn kkrgvapvsr ppeqsdlklv csdfersels sdinvrswci
     1261 qestrevcka daeiasslpa aqreagyyqk pekkcvdkfc sdsssdcgss sgsvrasrgs
     1321 wgswsstsss dgdkkpmvda qhflpagdsv sqndfpseap islnlshnic npmtvnslpq
     1381 yaepscpslp agptgveedk efntgfksrs ahwriltleg lyspgdlwpt ppvcvtssln
     1441 ctlengvpcv iqesapvhns fidwsatceg qfssaycple lndynafpee nmnyangfpc
     1501 padvqtdfid hnsqstwntp pnmpaawgha sfissppylt strslspmsg lfgsiwapqs
     1561 dvyenccpin pttehsthme nqavvckeyy lgfnpfraym nldiwtttan rnanfplsrd
     1621 ssycgnv
//
LOCUS       XP_047300276             530 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 17-like protein 20 [Homo
            sapiens].
ACCESSION   XP_047300276
VERSION     XP_047300276.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047444320.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..530
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..530
                     /product="ubiquitin carboxyl-terminal hydrolase 17-like
                     protein 20"
                     /calculated_mol_wt=59438
     Region          79..373
                     /region_name="Peptidase_C19E"
                     /note="A subfamily of Peptidase C19. Peptidase C19
                     contains ubiquitinyl hydrolases. They are intracellular
                     peptidases that remove ubiquitin molecules from
                     polyubiquinated peptides by cleavage of isopeptide bonds.
                     They hydrolyze bonds involving the carboxyl...; cd02661"
                     /db_xref="CDD:239126"
     Site            order(84,89,334,351)
                     /site_type="active"
                     /db_xref="CDD:239126"
     Region          <417..454
                     /region_name="HABP4_PAI-RBP1"
                     /note="Hyaluronan / mRNA binding family; pfam04774"
                     /db_xref="CDD:428114"
     CDS             1..530
                     /gene="LOC124906415"
                     /coded_by="XM_047444320.1:219..1811"
                     /db_xref="GeneID:124906415"
ORIGIN      
        1 meddslylgg ewqfnhfskl tssrpdaafa eiqrtslpek splscetrvd lcddlapvar
       61 qlapreklpl ssrrpaavga glqnmgntcy vnaslqclty tpplanymls rehsqtchrh
      121 kgcmlctmqa hitralhnpg hviqpsqala agfhrgkqed aheflmftvd amkkaclpgh
      181 kqvdhhskdt tlihqifggy wrsqikclhc hgisdtfdpy ldialdiqaa qsvqqaleql
      241 vkpeelngen ayhcgvclqr apasktltlh tsakvlilvl krfsdvtgnk iaknvqypec
      301 ldmqpymsqp ntgplvyvly avlvhagwsc hnghyfsyvk aqegqwykmd daevtassii
      361 svlsqqayvl fyiqksewer hsesvsrgre psalgaedtd rratqgelkr dhpclqapel
      421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp
      481 eqqssllnls sttpthqesm ntgtlaslrg rarrskgknk hskrallvcq
//
LOCUS       XP_054207676             423 aa            linear   PRI 20-MAR-2023
DEFINITION  casein kinase I isoform X20 [Homo sapiens].
ACCESSION   XP_054207676
VERSION     XP_054207676.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351701.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..423
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..423
                     /product="casein kinase I isoform X20"
                     /calculated_mol_wt=48767
     CDS             1..423
                     /gene="CSNK1G3"
                     /gene_synonym="CKI-gamma 3; CSNK1G3L"
                     /coded_by="XM_054351701.1:919..2190"
                     /db_xref="GeneID:1456"
                     /db_xref="HGNC:HGNC:2456"
                     /db_xref="MIM:604253"
ORIGIN      
        1 menkkkdkdk sddrmarpsg rsghntrgtg ssssgvlmvg pnfrvgkkig cgnfgelrlg
       61 knlytneyva iklepmksra pqlhleyrfy kqlgsgdgip qvyyfgpcgk ynamvlellg
      121 psledlfdlc drtfslktvl miaiqlisrm eyvhsknliy rdvkpenfli grpgnktqqv
      181 ihiidfglak eyidpetkkh ipyrehkslt gtarymsint hlgkeqsrrd dlealghmfm
      241 yflrgslpwq glkadtlker yqkigdtkra tpievlcenf pematylryv rrldffekpd
      301 ydylrklftd lfdrkgymfd yeydwigkql ptpvgavqqd palssnreah qhrdkmqqsk
      361 nqvvsstnge lntddptagr snapitapte vevmdetncq kvlnmwcccf fkrrkrktiq
      421 rhk
//
LOCUS       XP_054207975             433 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 125 isoform X14 [Homo
            sapiens].
ACCESSION   XP_054207975
VERSION     XP_054207975.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352000.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..433
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..433
                     /product="coiled-coil domain-containing protein 125
                     isoform X14"
                     /calculated_mol_wt=49657
     CDS             1..433
                     /gene="CCDC125"
                     /gene_synonym="KENAE"
                     /coded_by="XM_054352000.1:351..1652"
                     /db_xref="GeneID:202243"
                     /db_xref="HGNC:HGNC:28924"
                     /db_xref="MIM:613781"
ORIGIN      
        1 mertlallhf rerekkemkr vfsipsiras kihslkcpef pitddkvale vemlktelea
       61 sqrqlrgkee alkilqsmai lgkatshtqa vlqktmeqnr slekeinalq weiefdhnrf
      121 knieeswiqk ydrlncenav lkenlkvkte eikmlksdna vlnqryleal amldikqqkm
      181 aqenmccdks gfaeasglel avlgaclchg pggnpcscar maastrklll qlkqekskee
      241 ayvmadafri afeqqlmrkn dqalqltqmd kmhkkatkwm nwkhlkedgf psprskktfg
      301 qrllgmlpse nsskrmedqd spqevlkmli dllndkeeal ahqrkvsyml araledkdta
      361 snenkeknpi kenfpfnnpw rktsefsvlg dpihssvcil nsvgcicsiq hsqidpnyrt
      421 lkrshslpss iif
//
LOCUS       XP_054219154             209 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin-conjugating enzyme E2 R2 isoform X1 [Homo sapiens].
ACCESSION   XP_054219154
VERSION     XP_054219154.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363179.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..209
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..209
                     /product="ubiquitin-conjugating enzyme E2 R2 isoform X1"
                     /calculated_mol_wt=23443
     CDS             1..209
                     /gene="UBE2R2"
                     /gene_synonym="CDC34B; E2-CDC34B; UBC3B"
                     /coded_by="XM_054363179.1:599..1228"
                     /db_xref="GeneID:54926"
                     /db_xref="HGNC:HGNC:19907"
                     /db_xref="MIM:612506"
ORIGIN      
        1 maqqqmtssq kalmlelksl qeepvegfri tlvdesdlyn wevaifgppn tlyeggyfkn
       61 gdvcisilhp pvddpqsgel pserwnptqn vrtillsvis llnepntfsp anvdasvmfr
      121 kwrdskgkdk eyaeiirkqv satkaeaekd gvkvpttlae yciktkvpsn dnssdllydd
      181 lydddidded eeeedadcyd dddsgnees
//
LOCUS       XP_054219914             384 aa            linear   PRI 20-MAR-2023
DEFINITION  FSD1-like protein isoform X7 [Homo sapiens].
ACCESSION   XP_054219914
VERSION     XP_054219914.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363939.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..384
                     /product="FSD1-like protein isoform X7"
                     /calculated_mol_wt=42681
     CDS             1..384
                     /gene="FSD1L"
                     /gene_synonym="CCDC10; CSDUFD1; FSD1CL; FSD1NL; MIR1"
                     /coded_by="XM_054363939.1:91..1245"
                     /db_xref="GeneID:83856"
                     /db_xref="HGNC:HGNC:13753"
                     /db_xref="MIM:609829"
ORIGIN      
        1 masafrlslk pkvsdnmthl mvdfsqerqm lqtlkflpvp kapeidpvec lvadnsvtva
       61 wrmpeednki dhfilehrkt nfdglprvkd ercweiidni kgteytlsgl kfdskymnfr
      121 vracnkavag eysdpvtlet kalnfnldns sshlnlkved tcvewdptgg kgqeskikgk
      181 enkgsvhvts lkkhtrsgtp spkrtsvgsr ppavrgsrdr ftgesytvlg dtaiesgqhy
      241 wevkaqkdck sysvgvaykt lgkfdqlgkt ntswcihvnn wlqntfaakh nnkvkaldvt
      301 vpekigvfcd fdggqlsfyd anskqllysf ktkftqpvlp gfmvwcggls lstgmqvpsa
      361 vrtlqkseng mtgsasslnn vvtq
//
LOCUS       XP_054182933            1196 aa            linear   PRI 20-MAR-2023
DEFINITION  NHS-like protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054182933
VERSION     XP_054182933.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326958.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1196
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1196
                     /product="NHS-like protein 2 isoform X3"
                     /calculated_mol_wt=130099
     CDS             1..1196
                     /gene="NHSL2"
                     /coded_by="XM_054326958.1:281..3871"
                     /db_xref="GeneID:340527"
                     /db_xref="HGNC:HGNC:33737"
                     /db_xref="MIM:301093"
ORIGIN      
        1 mpfyrrtvvp qrlcprnppq qlaelrdvsh laalsllrql adlcghslal ledleghlla
       61 lgrrtdslyr rtvrlrrrlp crllgpeede eelgashwsn ltrsqrarep vdaihteeye
      121 eqysearlvg qtfrssdeat kptpnprpqs arrlefilmp tkrqlsedet ttqgvrapea
      181 slslsttadk qtawnslfpl pileekrwpq lcstqsdivp inisgqqfdk haslrhslfn
      241 tetavnpkst lrrrrtiigf snfsqrdqgh snspagsvah sttsdirpsh svpegvhgrv
      301 avgqdarfps ltspvlrtps sepdephqar sgpnppgmes mgmvysvpss cngptestfs
      361 tswkgdafty mtpsatsqsn qvnengknps cgnswvslnk vpplvpkeaa tllvardnpa
      421 gcsgsagype rliqqrhmpe rpskigllts gtsrletgpg gasrfrersl svptdsgttd
      481 vdydeeqkan eacalpfast ssegsnsadn iaslsaqqea qhrrqrsksi slrkakkkps
      541 pptrsvslvk depgllpegg salpkdqrpk slclslehqg hhsshpdaqg hpaipnhkdp
      601 estqfshhwy ltdwksgdty qslsssstat gttviectqv qgsseslasp stsrattpsq
      661 lsievearei sspgrppglm spssgyssqs etptptvsms ltlghlppps ssvrvrpvvp
      721 erksslppts pmekfpksrl sfdlpltssp nldlsgmsis irsktkvsrh hsetnfgvkl
      781 aqktnpnqpi mpmvtqsdlr svrlrsvsks epeddiespe yaeepraeev ftlperktkp
      841 pvaekppvar rppslvhkpp svpeeyalts ptlampprss iqharplpqd sytvvrkpkp
      901 ssfpdgrspg estapsslvf tpfasssdaf fsgtqqppqg svedegpkvr vlperislqs
      961 qeeaekkkgk ipppvpkkps vlylpltspt aqmeayvaep rlplspiitl eedtkcpatg
     1021 ddlqslgqrv tstpqadser easplgssve pgteekslis dktaewiaed dddvfvasrt
     1081 tedlftvihr skrkllgwke pgeafvggrt sshspiknta espisestat agsgssanld
     1141 agrnddfkal lqkkgskatp rsrpsaaell kttnplarri iaqfskdyet tdnpst
//
LOCUS       XP_054183687             590 aa            linear   PRI 20-MAR-2023
DEFINITION  actin nucleation-promoting factor WAS isoform X1 [Homo sapiens].
ACCESSION   XP_054183687
VERSION     XP_054183687.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327712.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..590
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..590
                     /product="actin nucleation-promoting factor WAS isoform
                     X1"
                     /calculated_mol_wt=62639
     CDS             1..590
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /coded_by="XM_054327712.1:35..1807"
                     /db_xref="GeneID:7454"
                     /db_xref="HGNC:HGNC:12731"
                     /db_xref="MIM:300392"
ORIGIN      
        1 msggpmggrp ggrgapavqq nipstllqdh enqrlfemlg rkcltlatav vqlylalppg
       61 aehwtkehcg avcfvkdnpq ksyfirlygl qagrllweqe lysqlvystp tpffhtfagd
      121 dcqaglnfad edeaqafral vqekiqkrnq rqsgdrrqlp ppptpaneer rgglpplplh
      181 pggdqggppv gplslglatv diqnpditss ryrglpapgp spadkkrsgk kkiskadiga
      241 psgfkhvshv gwdpqngfdv nnldpdlrsl fsragiseaq ltdaetskli ydfiedqggl
      301 eavrqemrrq eplpppppps rggnqlprpp ivggnkgrsg plppvplgia pppptprgpp
      361 ppgrggpppp pppatgrsgp lpppppgagg ppmppppppp ppppssgngp appplppalv
      421 pagglapggg rgalldqirq giqlnktpga pessalqppp qsseglvgal mhvmqkrsra
      481 ihssgsrsvs qagvqwcnhg svqpqpprlk rssrlssqss wdyrrvppyl anfwcffgsd
      541 elslpsshys hvaqaalqlq gssdlprlsl pecwdyrhep pglavnlifl
//
LOCUS       NP_000227                499 aa            linear   PRI 24-MAR-2023
DEFINITION  hepatic triacylglycerol lipase precursor [Homo sapiens].
ACCESSION   NP_000227
VERSION     NP_000227.2
DBSOURCE    REFSEQ: accession NM_000236.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 499)
  AUTHORS   Deng R, Lu X, Hong C, Cai R, Wang P, Xiong L, Wang X, Chen Q and
            Lin J.
  TITLE     Downregulation of TUSC3 promotes EMT and hepatocellular carcinoma
            progression through LIPC/AKT axis
  JOURNAL   J Transl Med 20 (1), 485 (2022)
   PUBMED   36274132
  REMARK    GeneRIF: Downregulation of TUSC3 promotes EMT and hepatocellular
            carcinoma progression through LIPC/AKT axis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 499)
  AUTHORS   Dijk W, Di Filippo M, Kooijman S, van Eenige R, Rimbert A, Caillaud
            A, Thedrez A, Arnaud L, Pronk A, Garcon D, Sotin T, Lindenbaum P,
            Ozcariz Garcia E, Pais de Barros JP, Duvillard L, Si-Tayeb K, Amigo
            N, Le Questel JY, Rensen PCN, Le May C, Moulin P and Cariou B.
  TITLE     Identification of a Gain-of-Function LIPC Variant as a Novel Cause
            of Familial Combined Hypocholesterolemia
  JOURNAL   Circulation 146 (10), 724-739 (2022)
   PUBMED   35899625
  REMARK    GeneRIF: Identification of a Gain-of-Function LIPC Variant as a
            Novel Cause of Familial Combined Hypocholesterolemia.
REFERENCE   3  (residues 1 to 499)
  AUTHORS   Liao YH, Er LK, Wu S, Ko YL and Teng MS.
  TITLE     Functional Haplotype of LIPC Induces Triglyceride-Mediated
            Suppression of HDL-C Levels According to Genome-Wide Association
            Studies
  JOURNAL   Genes (Basel) 12 (2), 148 (2021)
   PUBMED   33499410
  REMARK    GeneRIF: Functional Haplotype of LIPC Induces Triglyceride-Mediated
            Suppression of HDL-C Levels According to Genome-Wide Association
            Studies.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 499)
  AUTHORS   Seyedian SM, Bijanzadeh M, Ahmadi F and Haghighizadeh MH.
  TITLE     Association between Endothelial nitric oxide synthase and Hepatic
            lipase gene polymorphisms with the risk of coronary artery disease
            in Southern Iran population - A case control study
  JOURNAL   Nucleosides Nucleotides Nucleic Acids 40 (4), 423-433 (2021)
   PUBMED   33673789
  REMARK    GeneRIF: Association between Endothelial nitric oxide synthase and
            Hepatic lipase gene polymorphisms with the risk of coronary artery
            disease in Southern Iran population - A case control study.
REFERENCE   5  (residues 1 to 499)
  AUTHORS   Park HS, Kim IJ, Kim EG, Ryu CS, Lee JY, Ko EJ, Park HW, Sung JH
            and Kim NK.
  TITLE     A study of associations between CUBN, HNF1A, and LIPC gene
            polymorphisms and coronary artery disease
  JOURNAL   Sci Rep 10 (1), 16294 (2020)
   PUBMED   33004870
  REMARK    GeneRIF: A study of associations between CUBN, HNF1A, and LIPC gene
            polymorphisms and coronary artery disease.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 499)
  AUTHORS   Hegele RA, Tu L and Connelly PW.
  TITLE     Human hepatic lipase mutations and polymorphisms
  JOURNAL   Hum Mutat 1 (4), 320-324 (1992)
   PUBMED   1301939
REFERENCE   7  (residues 1 to 499)
  AUTHORS   Hegele RA, Little JA and Connelly PW.
  TITLE     Compound heterozygosity for mutant hepatic lipase in familial
            hepatic lipase deficiency
  JOURNAL   Biochem Biophys Res Commun 179 (1), 78-84 (1991)
   PUBMED   1883393
REFERENCE   8  (residues 1 to 499)
  AUTHORS   Hegele RA, Vezina C, Moorjani S, Lupien PJ, Gagne C, Brun LD,
            Little JA and Connelly PW.
  TITLE     A hepatic lipase gene mutation associated with heritable lipolytic
            deficiency
  JOURNAL   J Clin Endocrinol Metab 72 (3), 730-732 (1991)
   PUBMED   1671786
REFERENCE   9  (residues 1 to 499)
  AUTHORS   Ameis D, Stahnke G, Kobayashi J, McLean J, Lee G, Buscher M, Schotz
            MC and Will H.
  TITLE     Isolation and characterization of the human hepatic lipase gene
  JOURNAL   J Biol Chem 265 (12), 6552-6555 (1990)
   PUBMED   2324091
REFERENCE   10 (residues 1 to 499)
  AUTHORS   Kinnunen,P.K. and Ehnolm,C.
  TITLE     Effect of serum and C-apoproteins from very low density
            lipoproteins on human postheparin plasma hepatic lipase
  JOURNAL   FEBS Lett 65 (3), 354-357 (1976)
   PUBMED   182536
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315306.1, BC146659.1,
            AV645541.1, D83548.1, AI823349.1 and AC018904.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 11, 2008 this sequence version replaced NP_000227.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X07228.1, D83548.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000299022.10/ ENSP00000299022.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..499
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     Protein         1..499
                     /product="hepatic triacylglycerol lipase precursor"
                     /EC_number="3.1.1.3"
                     /EC_number="3.1.1.5"
                     /EC_number="3.1.1.32"
                     /note="hepatic triacylglycerol lipase; hepatic lipase;
                     lipase member C; lipase, hepatic; Triacylglycerol lipase;
                     phospholipase A1; lysophospholipase"
                     /calculated_mol_wt=53531
     sig_peptide     1..22
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2402
     mat_peptide     23..499
                     /product="hepatic triacylglycerol lipase"
                     /calculated_mol_wt=53531
     Region          24..349
                     /region_name="Lipase"
                     /note="pfam00151"
                     /db_xref="CDD:395099"
     Site            42
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P11150.3)"
     Site            78
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P11150.3)"
     Region          254..277
                     /region_name="Essential for determining substrate
                     specificity. /evidence=ECO:0000269|PubMed:7592706"
                     /note="propagated from UniProtKB/Swiss-Prot (P11150.3)"
     Region          352..487
                     /region_name="PLAT_LPL"
                     /note="PLAT/ LH2 domain present in lipoprotein lipase
                     (LPL). LPL is a key enzyme in catabolism of plasma
                     lipoprotein triglycerides (TGs) and has therefeore has a
                     profound influence on triglyceride and high-density
                     lipoprotein (HDL) cholesterol levels in the...; cd01758"
                     /db_xref="CDD:238856"
     Site            362
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P11150.3)"
     Site            397
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P11150.3)"
     CDS             1..499
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /coded_by="NM_000236.3:43..1542"
                     /db_xref="CCDS:CCDS10166.1"
                     /db_xref="GeneID:3990"
                     /db_xref="HGNC:HGNC:6619"
                     /db_xref="MIM:151670"
ORIGIN      
        1 mdtsplcfsi llvlcifiqs salgqslkpe pfgrraqave tnktlhemkt rfllfgetnq
       61 gcqirinhpd tlqecgfnss lplvmiihgw svdgvlenwi wqmvaalksq paqpvnvglv
      121 dwitlahdhy tiavrntrlv gkevaallrw leesvqlsrs hvhligyslg ahvsgfagss
      181 iggthkigri tgldaagplf egsapsnrls pddanfvdai htftrehmgl svgikqpigh
      241 ydfypnggsf qpgchflely rhiaqhgfna itqtikcshe rsvhlfidsl lhagtqsmay
      301 pcgdmnsfsq glclsckkgr cntlgyhvrq eprskskrlf lvtraqspfk vyhyqfkiqf
      361 inqtetpiqt tftmsllgtk ekmqkipitl gkgiasnkty sflitldvdi gelimikfkw
      421 ensavwanvw dtvqtiipws tgprhsglvl ktirvkaget qqrmtfcsen tddlllrptq
      481 ekifvkceik sktskrkir
//
LOCUS       NP_996996                494 aa            linear   PRI 05-APR-2023
DEFINITION  sugar phosphate exchanger 3 isoform 1 [Homo sapiens].
ACCESSION   NP_996996
VERSION     NP_996996.1
DBSOURCE    REFSEQ: accession NM_207113.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 494)
  AUTHORS   Yu Z, Surface LE, Park CY, Horlbeck MA, Wyant GA, Abu-Remaileh M,
            Peterson TR, Sabatini DM, Weissman JS and O'Shea EK.
  TITLE     Identification of a transporter complex responsible for the
            cytosolic entry of nitrogen-containing bisphosphonates
  JOURNAL   Elife 7, e36620 (2018)
   PUBMED   29745899
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 494)
  AUTHORS   Palmieri M, Impey S, Kang H, di Ronza A, Pelz C, Sardiello M and
            Ballabio A.
  TITLE     Characterization of the CLEAR network reveals an integrated control
            of cellular clearance pathways
  JOURNAL   Hum Mol Genet 20 (19), 3852-3866 (2011)
   PUBMED   21752829
  REMARK    GeneRIF: SLC37A3 protein localizes in lysosomes in HeLa cells
REFERENCE   3  (residues 1 to 494)
  AUTHORS   Pan CJ, Chen SY, Jun HS, Lin SR, Mansfield BC and Chou JY.
  TITLE     SLC37A1 and SLC37A2 are phosphate-linked, glucose-6-phosphate
            antiporters
  JOURNAL   PLoS One 6 (9), e23157 (2011)
   PUBMED   21949678
REFERENCE   4  (residues 1 to 494)
  AUTHORS   Bartoloni L and Antonarakis SE.
  TITLE     The human sugar-phosphate/phosphate exchanger family SLC37
  JOURNAL   Pflugers Arch 447 (5), 780-783 (2004)
   PUBMED   12811562
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB481623.1, AK074823.1, BC028380.1, AL136583.1 and BM669953.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074823.1, BC028380.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326232.14/ ENSP00000321498.9
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..494
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     Protein         1..494
                     /product="sugar phosphate exchanger 3 isoform 1"
                     /note="sugar phosphate exchanger 3; solute carrier family
                     37 (glycerol-3-phosphate transporter), member 3;
                     sugar-phosphate exchange protein 3"
                     /calculated_mol_wt=54355
     Site            16..36
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCC5.2)"
     Region          20..476
                     /region_name="MFS_SLC37A3"
                     /note="Solute carrier family 37 member 3 of the Major
                     Facilitator Superfamily of transporters; cd17342"
                     /db_xref="CDD:340900"
     Site            order(34..35,38..39,42,99,155..156,158..160,163,183,
                     186..187,190,299,302..303,306..308,311,339,343,394..395,
                     399,403,427,430..431,434..435,438)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:340900"
     Site            58
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NCC5.2)"
     Site            81..101
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCC5.2)"
     Site            113..133
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCC5.2)"
     Site            147..167
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCC5.2)"
     Site            177..197
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCC5.2)"
     Site            209..229
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCC5.2)"
     Site            266
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NCC5.2)"
     Site            297..317
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCC5.2)"
     Site            333..353
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCC5.2)"
     Site            357..377
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCC5.2)"
     Site            386..406
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCC5.2)"
     Site            428..448
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCC5.2)"
     Site            452..472
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCC5.2)"
     CDS             1..494
                     /gene="SLC37A3"
                     /gene_synonym="SPX3"
                     /coded_by="NM_207113.3:186..1670"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5859.1"
                     /db_xref="GeneID:84255"
                     /db_xref="HGNC:HGNC:20651"
                     /db_xref="MIM:619137"
ORIGIN      
        1 mawpnvfqrg sllsqfshhh vvvflltffs ysllhasrkt fsnvkvsise qwtpsafnts
       61 velpveiwss nhlfpsaeka tlflgtldti flfsyavglf isgivgdrln lrwvlsfgmc
      121 ssalvvfvfg altewlrfyn kwlycclwiv ngllqstgwp cvvavmgnwf gkagrgvvfg
      181 lwsacasvgn ilgaclassv lqygyeyafl vtasvqfagg iviffgllvs peeiglsgie
      241 aeenfeedsh rplinggene deyepnysiq ddssvaqvka isfyqacclp gvipyslaya
      301 clklvnysff fwlpfylsnn fgwkeaeadk lsiwydvggi iggtlqgfis dvlqkrapvl
      361 alslllavgs ligysrspnd ksinallmtv tgffiggpsn missaisadl grqeliqrss
      421 ealatvtgiv dgsgsigaav gqylvslird klgwmwvfyf filmtsctiv fisplivrei
      481 fslvlrrqah ilre
//
LOCUS       NP_003695               1224 aa            linear   PRI 10-APR-2023
DEFINITION  protein FAM193A isoform 1 [Homo sapiens].
ACCESSION   NP_003695
VERSION     NP_003695.3
DBSOURCE    REFSEQ: accession NM_003704.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1224)
  AUTHORS   Szwarc MM, Guarnieri AL, Joshi M, Duc HN, Laird MC, Pandey A,
            Khanal S, Dohm E, Bui AK, Sullivan KD, Galbraith MD, Andrysik Z and
            Espinosa JM.
  TITLE     FAM193A is a positive regulator of p53 activity
  JOURNAL   Cell Rep 42 (3), 112230 (2023)
   PUBMED   36897777
  REMARK    GeneRIF: FAM193A is a positive regulator of p53 activity.
REFERENCE   2  (residues 1 to 1224)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (residues 1 to 1224)
  AUTHORS   Amin M, Uhlig HH, Kamprad M, Karbe J, Osman AA, Grahmann F,
            Hummelsheim H and Mothes T.
  TITLE     Neurological disease-associated autoantibodies against an unknown
            protein encoded by a RES4-22 homologous gene
  JOURNAL   Scand J Immunol 53 (2), 204-208 (2001)
   PUBMED   11169226
REFERENCE   4  (residues 1 to 1224)
  AUTHORS   Hadano S, Ishida Y and Ikeda JE.
  TITLE     The primary structure and genomic organization of five novel
            transcripts located close to the Huntington's disease gene on human
            chromosome 4p16.3
  JOURNAL   DNA Res 5 (3), 177-186 (1998)
   PUBMED   9734812
REFERENCE   5  (residues 1 to 1224)
  AUTHORS   Hadano S, Ishida Y, Tomiyasu H, Yamamoto K, Bates GP and Ikeda JE.
  TITLE     Transcript map of the human chromosome 4p16.3 consisting of 627
            cDNA clones derived from 1 Mb of the Huntington's disease locus
  JOURNAL   DNA Res 3 (4), 239-255 (1996)
   PUBMED   8946164
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB000459.1, BM468825.1, AF040966.1, D44687.1 and AA905011.1.
            On Sep 3, 2004 this sequence version replaced NP_003695.2.
            
            Transcript Variant: This variant (1, also known as RES4-22A)
            encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB000459.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1224
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     Protein         1..1224
                     /product="protein FAM193A isoform 1"
                     /note="protein FAM193A"
                     /calculated_mol_wt=135834
     Region          <661..>738
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     Region          1168..1223
                     /region_name="FAM193_C"
                     /note="FAM193 family C-terminal; pfam15914"
                     /db_xref="CDD:435016"
     CDS             1..1224
                     /gene="FAM193A"
                     /gene_synonym="C4orf8; RES4-22"
                     /coded_by="NM_003704.4:352..4026"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS33943.1"
                     /db_xref="GeneID:8603"
                     /db_xref="HGNC:HGNC:16822"
                     /db_xref="MIM:620037"
ORIGIN      
        1 mkvrllrqls aaakvkapsg lqgppqahqf isllleeyga lcqaarsist flgtlenehl
       61 kkfqvtwelh nkhlfenlvf sepllqsnlp alvsqirlgt tthdtcsedt ystllqryqr
      121 seeelrrvae ewlecqkrid ayvdeqmtmk tkqrmltedw elfkqrrfie eqltnkkavt
      181 gennftdtmr hmlssrlsmp dcpncnyrrr cacddcslsh iltcgimdpp vtddihihql
      241 plqvdpapdy laersppsvs sassgsgsss pitiqqhprl iltdsgsapt fcsddedvap
      301 lsakfadiyp lsnyddtevv anmngihsel ngggenmalk despqissts sssseaddee
      361 adgessgepp gapkedgvlg srsprteesk adspppsypt qqaeqapntc echvckqeas
      421 gltpsamtag alppghqfls pekpthpalh lyphihghvp lhtvphlprp lihptlyatp
      481 pfthskalpp apvqnhtnkh qvfnaslqdh iypscfgntp ewnsskfisl wgsevmndkn
      541 wnpgtflpdt isgseilgpt lsetrpealp ppssnetpav sdskekknaa kkkclynfqd
      601 afmeankvvm atssatssvs ctattvqssn sqfrvsskrp psvgdvfhgi skedhrhsap
      661 aaprnsptgl aplpalspaa lspaalspas tphlanlaap sfpktatttp gfvdtrksfc
      721 paplppatdg sisappsvcs dpdceghrce ngvydpqqdd gdesadedsc sehssststs
      781 tnqkegkycd ccyceffghg gppaaptsrn yaemreklrl rltkrkeeqp kkmdqisere
      841 svvdhrrved llqfinsset kpvsstraak rarhkqrkle ekarleaear arehlhlqee
      901 qrrreeeede eeeedrfkee fqrlqelqkl ravkkkkker pskdcpkldm ltrnfqaate
      961 svpnsgnihn gsleqteepe tsshspsrhm nhseprpglg adgdaadpvd trdskfllpk
     1021 evngkqhepl sfffdimqhh kegngkqklr qtskassepa rrpteppkat egqskpraqt
     1081 eskakvvdlm siteqkreer kvnsnnnnkk qlnhikdeks nptpmeptsp gehqqnsklv
     1141 laespqpkgk nkknkkkkgd rvnnsiddvf lpkdidldsv dmdetereve yfkrfcldsa
     1201 rqtrqrlsin wsnfslkkat faah
//
LOCUS       NP_001365093             447 aa            linear   PRI 17-APR-2023
DEFINITION  X-ray radiation resistance-associated protein 1 isoform 10 [Homo
            sapiens].
ACCESSION   NP_001365093
VERSION     NP_001365093.1
DBSOURCE    REFSEQ: accession NM_001378164.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 447)
  AUTHORS   Chang X, March M, Mentch F, Qu H, Liu Y, Glessner J, Sleiman P and
            Hakonarson H.
  TITLE     Genetic architecture of asthma in African American patients
  JOURNAL   J Allergy Clin Immunol 151 (4), 1132-1136 (2023)
   PUBMED   36089080
  REMARK    GeneRIF: Genetic architecture of asthma in African American
            patients.
REFERENCE   2  (residues 1 to 447)
  AUTHORS   Wang W, Guo M, Xia X, Zhang C, Zeng Y and Wu S.
  TITLE     XRRA1 Targets ATM/CHK1/2-Mediated DNA Repair in Colorectal Cancer
  JOURNAL   Biomed Res Int 2017, 5718968 (2017)
   PUBMED   29082250
  REMARK    GeneRIF: our results identify a novel link between XRRA1 and the
            ATM/CHK1/2 pathway and suggest that XRRA1 is involved in a DNA
            damage response that drives radio- and chemoresistance by
            regulating the ATM/CHK1/2 pathway.
            Erratum:[Biomed Res Int. 2021 Feb 19;2021:3030267. PMID: 33728327]
REFERENCE   3  (residues 1 to 447)
  AUTHORS   Mori T, Watanuki T and Kashiwagura T.
  TITLE     Diesel exhaust particles disturb gene expression in mouse testis
  JOURNAL   Environ Toxicol 22 (1), 58-63 (2007)
   PUBMED   17295261
REFERENCE   4  (residues 1 to 447)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   5  (residues 1 to 447)
  AUTHORS   Mesak FM, Osada N, Hashimoto K, Liu QY and Ng CE.
  TITLE     Molecular cloning, genomic characterization and over-expression of
            a novel gene, XRRA1, identified from human colorectal cancer cell
            HCT116Clone2_XRR and macaque testis
  JOURNAL   BMC Genomics 4 (1), 32 (2003)
   PUBMED   12908878
  REMARK    GeneRIF: Molecular cloning and gene expression patterns of XRRA1.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001992.4 and AP000560.4.
            
            Transcript Variant: This variant (11), as well as variant 10,
            encodes isoform 10.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.164351.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..447
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..447
                     /product="X-ray radiation resistance-associated protein 1
                     isoform 10"
                     /note="X-ray radiation resistance-associated protein 1"
                     /calculated_mol_wt=50695
     CDS             1..447
                     /gene="XRRA1"
                     /coded_by="NM_001378164.1:838..2181"
                     /note="isoform 10 is encoded by transcript variant 11"
                     /db_xref="GeneID:143570"
                     /db_xref="HGNC:HGNC:18868"
                     /db_xref="MIM:609788"
ORIGIN      
        1 mlddnrlsnp scfaslaglr rlkklslden riiripylqq vqlydesvdw nggrgsphke
       61 pqfmlqskpr mledsdeqld ytvlpmkkdv drtevvfssy pgfstsevks eipkvpkqpl
      121 vlhhprmttt kspskdmlep eaelaedlpt tkstsvesem ptenleghsp scrtfvplpp
      181 icsnstvhse etlshlsdtt vrlsperpsd edskstesif ltqvselpss vihkddlelk
      241 ekdqkkppta prevkgtrrk lptaflpsky hgyeelltak pdpafiepkg iqknaqalqq
      301 mlkhpllchs skpkldtlqk pyvhkekraq ripipppkkt raqllddifi rlrdprnite
      361 aplgavlhqw terrlvnhkq yleakrllke fqaryrqlvs gslrtvfgtt plpmacpals
      421 esqpkfghfl efmdefcqep tasdsqg
//
LOCUS       NP_001009936             207 aa            linear   PRI 18-DEC-2022
DEFINITION  PHD finger protein 19 isoform b [Homo sapiens].
ACCESSION   NP_001009936
VERSION     NP_001009936.1
DBSOURCE    REFSEQ: accession NM_001009936.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 207)
  AUTHORS   Xiaoyun S, Yuyuan Z, Jie X, Yingjie N, Qing X, Yuezhen D and
            Haiguang X.
  TITLE     PHF19 activates hedgehog signaling and promotes tumorigenesis in
            hepatocellular carcinoma
  JOURNAL   Exp Cell Res 406 (1), 112690 (2021)
   PUBMED   34129846
  REMARK    GeneRIF: PHF19 activates hedgehog signaling and promotes
            tumorigenesis in hepatocellular carcinoma.
REFERENCE   2  (residues 1 to 207)
  AUTHORS   Li Y, Gong J and Zhang L.
  TITLE     PHD finger protein 19 expression in multiple myeloma: Association
            with clinical features, induction therapy outcome, disease
            progression, and survival
  JOURNAL   J Clin Lab Anal 35 (9), e23910 (2021)
   PUBMED   34390275
  REMARK    GeneRIF: PHD finger protein 19 expression in multiple myeloma:
            Association with clinical features, induction therapy outcome,
            disease progression, and survival.
REFERENCE   3  (residues 1 to 207)
  AUTHORS   Schinke CD, Bird JT, Qu P, Yaccoby S, Lyzogubov VV, Shelton R, Ling
            W, Boyle EM, Deshpande S, Byrum SD, Washam C, Mackintosh S,
            Stephens O, Thanendrarajan S, Zangari M, Shaughnessy J Jr, Zhan F,
            Barlogie B, van Rhee F and Walker BA.
  TITLE     PHF19 inhibition as a therapeutic target in multiple myeloma
  JOURNAL   Curr Res Transl Med 69 (3), 103290 (2021)
   PUBMED   33894670
  REMARK    GeneRIF: PHF19 inhibition as a therapeutic target in multiple
            myeloma.
REFERENCE   4  (residues 1 to 207)
  AUTHORS   Zhang J, Lv W, Liu Y, Fu W, Chen B, Ma Q and Gao X.
  TITLE     LINC_00355 promotes gastric cancer progression by upregulating
            PHF19 expression through sponging miR-15a-5p
  JOURNAL   BMC Cancer 21 (1), 657 (2021)
   PUBMED   34078310
  REMARK    GeneRIF: LINC_00355 promotes gastric cancer progression by
            upregulating PHF19 expression through sponging miR-15a-5p.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 207)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (residues 1 to 207)
  AUTHORS   Ghislin S, Deshayes F, Middendorp S, Boggetto N and Alcaide-Loridan
            C.
  TITLE     PHF19 and Akt control the switch between proliferative and invasive
            states in melanoma
  JOURNAL   Cell Cycle 11 (8), 1634-1645 (2012)
   PUBMED   22487681
  REMARK    GeneRIF: PHF19 silencing reduces the cell proliferation rate and
            increases the transendothelial migration capacities of melanoma
            cell lines.
REFERENCE   7  (residues 1 to 207)
  AUTHORS   Boulay G, Rosnoblet C, Guerardel C, Angrand PO and Leprince D.
  TITLE     Functional characterization of human Polycomb-like 3 isoforms
            identifies them as components of distinct EZH2 protein complexes
  JOURNAL   Biochem J 434 (2), 333-342 (2011)
   PUBMED   21143197
  REMARK    GeneRIF: Functional characterization of human Polycomb-like 3
            isoforms identifies them as components of distinct EZH2 protein
            complexes
REFERENCE   8  (residues 1 to 207)
  AUTHORS   Zhernakova A, Stahl EA, Trynka G, Raychaudhuri S, Festen EA, Franke
            L, Westra HJ, Fehrmann RS, Kurreeman FA, Thomson B, Gupta N,
            Romanos J, McManus R, Ryan AW, Turner G, Brouwer E, Posthumus MD,
            Remmers EF, Tucci F, Toes R, Grandone E, Mazzilli MC, Rybak A,
            Cukrowska B, Coenen MJ, Radstake TR, van Riel PL, Li Y, de Bakker
            PI, Gregersen PK, Worthington J, Siminovitch KA, Klareskog L,
            Huizinga TW, Wijmenga C and Plenge RM.
  TITLE     Meta-analysis of genome-wide association studies in celiac disease
            and rheumatoid arthritis identifies fourteen non-HLA shared loci
  JOURNAL   PLoS Genet 7 (2), e1002004 (2011)
   PUBMED   21383967
REFERENCE   9  (residues 1 to 207)
  AUTHORS   Gregersen PK, Amos CI, Lee AT, Lu Y, Remmers EF, Kastner DL, Seldin
            MF, Criswell LA, Plenge RM, Holers VM, Mikuls TR, Sokka T, Moreland
            LW, Bridges SL Jr, Xie G, Begovich AB and Siminovitch KA.
  TITLE     REL, encoding a member of the NF-kappaB family of transcription
            factors, is a newly defined risk locus for rheumatoid arthritis
  JOURNAL   Nat Genet 41 (7), 820-823 (2009)
   PUBMED   19503088
REFERENCE   10 (residues 1 to 207)
  AUTHORS   Wang S, Robertson GP and Zhu J.
  TITLE     A novel human homologue of Drosophila polycomblike gene is
            up-regulated in multiple cancers
  JOURNAL   Gene 343 (1), 69-78 (2004)
   PUBMED   15563832
  REMARK    GeneRIF: identification of a gene encoding a human homologue of the
            Drosophila polycomblike protein, hPCL3 gene, encoding two nuclear
            proteins, hPCL3S and hPCL3L; markedly overexpressed in many types
            of cancers
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC022374.1 and AI369987.1.
            
            Transcript Variant: This variant (2) contains alternate exon
            structure in both the 5' and 3' regions, and it thus differs in
            both UTRs, initiates translation from a downstream in-frame start
            codon, and includes an alternate 3' coding region, compared to
            variant 3. The encoded isoform (b, also known as hPCL3S) is shorter
            at the N-terminus and has a distinct C-terminus, compared to
            isoform c.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC022374.1, SRR1163655.205280.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..207
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     Protein         1..207
                     /product="PHD finger protein 19 isoform b"
                     /note="polycomb like 3; polycomb-like protein 3; tudor
                     domain containing 19B"
                     /calculated_mol_wt=22381
     Site            13
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T6S3.1)"
     Region          39..95
                     /region_name="Tudor_PHF19"
                     /note="Tudor domain found in PHD finger protein1 (PHF19)
                     and similar proteins; cd20451"
                     /db_xref="CDD:410522"
     Site            order(47,49..50,52..57,74..78,80,88..89,92..95)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:410522"
     Site            47
                     /site_type="other"
                     /note="Histone H3K36me3 binding; propagated from
                     UniProtKB/Swiss-Prot (Q5T6S3.1)"
     Site            55
                     /site_type="other"
                     /note="Histone H3K36me3 binding; propagated from
                     UniProtKB/Swiss-Prot (Q5T6S3.1)"
     Region          74..80
                     /region_name="Histone H3K36me3 binding"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T6S3.1)"
     Region          98..150
                     /region_name="PHD1_PHF19"
                     /note="PHD finger 1 found in PHD finger protein 19
                     (PHF19); cd15579"
                     /db_xref="CDD:277054"
     Site            order(98,112..116,120,143)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277054"
     CDS             1..207
                     /gene="PHF19"
                     /gene_synonym="MTF2L1; PCL3; TDRD19B"
                     /coded_by="NM_001009936.3:114..737"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS35117.1"
                     /db_xref="GeneID:26147"
                     /db_xref="HGNC:HGNC:24566"
                     /db_xref="MIM:609740"
ORIGIN      
        1 menraldpgt rdsygatshl pnkgalakvk nnfkdlmskl tegqyvlcrw tdglyylgki
       61 krvssskqsc lvtfednsky wvlwkdiqha gvpgeepkcn iclgktsgpl neilicgkcg
      121 lgyhqqchip iagsadqpll tpwfcrrcif alavrvslps spvpaspass sgadqrlpsq
      181 slsskqkght waletdsasa tvlgqdl
//
LOCUS       NP_001276002             700 aa            linear   PRI 18-DEC-2022
DEFINITION  lymphoid-specific helicase isoform 8 [Homo sapiens].
ACCESSION   NP_001276002
VERSION     NP_001276002.1
DBSOURCE    REFSEQ: accession NM_001289073.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 700)
  AUTHORS   Peixoto E, Khan A, Lewis ZA, Contreras-Galindo R and Czaja W.
  TITLE     The Chromatin Remodeler HELLS: A New Regulator in DNA Repair,
            Genome Maintenance, and Cancer
  JOURNAL   Int J Mol Sci 23 (16), 9313 (2022)
   PUBMED   36012581
  REMARK    GeneRIF: The Chromatin Remodeler HELLS: A New Regulator in DNA
            Repair, Genome Maintenance, and Cancer.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 700)
  AUTHORS   Liang X, Li L and Fan Y.
  TITLE     Diagnostic, Prognostic, and Immunological Roles of HELLS in
            Pan-Cancer: A Bioinformatics Analysis
  JOURNAL   Front Immunol 13, 870726 (2022)
   PUBMED   35774795
  REMARK    GeneRIF: Diagnostic, Prognostic, and Immunological Roles of HELLS
            in Pan-Cancer: A Bioinformatics Analysis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 700)
  AUTHORS   He C and Liu L.
  TITLE     Hsa_circ_0072008 regulates cell proliferation, migration, and
            invasion in cervical squamous cell carcinoma via miR-1305/helicase,
            lymphoid specific (HELLS) axis
  JOURNAL   Bioengineered 13 (4), 8311-8322 (2022)
   PUBMED   35311456
  REMARK    GeneRIF: Hsa_circ_0072008 regulates cell proliferation, migration,
            and invasion in cervical squamous cell carcinoma via
            miR-1305/helicase, lymphoid specific (HELLS) axis.
REFERENCE   4  (residues 1 to 700)
  AUTHORS   Chen X, Li Y, Rubio K, Deng B, Li Y, Tang Q, Mao C, Liu S, Xiao D,
            Barreto G and Tao Y.
  TITLE     Lymphoid-specific helicase in epigenetics, DNA repair and cancer
  JOURNAL   Br J Cancer 126 (2), 165-173 (2022)
   PUBMED   34493821
  REMARK    GeneRIF: Lymphoid-specific helicase in epigenetics, DNA repair and
            cancer.
            Review article
REFERENCE   5  (residues 1 to 700)
  AUTHORS   Tameni A, Sauta E, Mularoni V, Torricelli F, Manzotti G, Inghirami
            G, Bellazzi R, Fragliasso V and Ciarrocchi A.
  TITLE     The DNA-helicase HELLS drives ALK- ALCL proliferation by the
            transcriptional control of a cytokinesis-related program
  JOURNAL   Cell Death Dis 12 (1), 130 (2021)
   PUBMED   33504766
  REMARK    GeneRIF: The DNA-helicase HELLS drives ALK(-) ALCL proliferation by
            the transcriptional control of a cytokinesis-related program.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 700)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD,
            Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird
            G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson
            T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan
            S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou
            T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore
            N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J,
            Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead
            SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T,
            Doucette-Stamm L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   7  (residues 1 to 700)
  AUTHORS   Sun LQ, Lee DW, Zhang Q, Xiao W, Raabe EH, Meeker A, Miao D, Huso
            DL and Arceci RJ.
  TITLE     Growth retardation and premature aging phenotypes in mice with
            disruption of the SNF2-like gene, PASG
  JOURNAL   Genes Dev 18 (9), 1035-1046 (2004)
   PUBMED   15105378
REFERENCE   8  (residues 1 to 700)
  AUTHORS   Ohira M, Morohashi A, Nakamura Y, Isogai E, Furuya K, Hamano S,
            Machida T, Aoyama M, Fukumura M, Miyazaki K, Suzuki Y, Sugano S,
            Hirato J and Nakagawara A.
  TITLE     Neuroblastoma oligo-capping cDNA project: toward the understanding
            of the genesis and biology of neuroblastoma
  JOURNAL   Cancer Lett 197 (1-2), 63-68 (2003)
   PUBMED   12880961
  REMARK    Review article
REFERENCE   9  (residues 1 to 700)
  AUTHORS   Lee DW, Zhang K, Ning ZQ, Raabe EH, Tintner S, Wieland R, Wilkins
            BJ, Kim JM, Blough RI and Arceci RJ.
  TITLE     Proliferation-associated SNF2-like gene (PASG): a SNF2 family
            member altered in leukemia
  JOURNAL   Cancer Res 60 (13), 3612-3622 (2000)
   PUBMED   10910076
REFERENCE   10 (residues 1 to 700)
  AUTHORS   Geiman TM, Durum SK and Muegge K.
  TITLE     Characterization of gene expression, genomic structure, and
            chromosomal localization of Hells (Lsh)
  JOURNAL   Genomics 54 (3), 477-483 (1998)
   PUBMED   9878251
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC423372.1, BC105606.1,
            AB102717.1, BC111789.1 and BC015477.1.
            
            Summary: This gene encodes a lymphoid-specific helicase. Other
            helicases function in processes involving DNA strand separation,
            including replication, repair, recombination, and transcription.
            This protein is thought to be involved with cellular proliferation
            and may play a role in leukemogenesis. Alternatively spliced
            transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jan 2014].
            
            Transcript Variant: This variant (8) lacks an alternate exon in the
            5' coding region and uses a downstream translation start codon,
            compared to variant 1. The encoded protein (isoform 8) has a
            shorter and distinct N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB102717.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..700
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.33"
     Protein         1..700
                     /product="lymphoid-specific helicase isoform 8"
                     /note="SWI/SNF2-related, matrix-associated,
                     actin-dependent regulator of chromatin, subfamily A,
                     member 6; proliferation-associated SNF2-like protein"
                     /calculated_mol_wt=80905
     Region          82..315
                     /region_name="DEXHc_HELLS_SMARCA6"
                     /note="DEXH-box helicase domain of HELLS; cd18009"
                     /db_xref="CDD:350767"
     Region          83..>685
                     /region_name="PLN03142"
                     /note="Probable chromatin-remodeling complex ATPase chain;
                     Provisional"
                     /db_xref="CDD:215601"
     Site            order(112..118,151,216..217)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350767"
     CDS             1..700
                     /gene="HELLS"
                     /gene_synonym="ICF4; LSH; Nbla10143; PASG; SMARCA6"
                     /coded_by="NM_001289073.2:484..2586"
                     /note="isoform 8 is encoded by transcript variant 8"
                     /db_xref="GeneID:3070"
                     /db_xref="HGNC:HGNC:4861"
                     /db_xref="MIM:603946"
ORIGIN      
        1 mqvkrsqeil svakknkken edenssstnl cvedlqknkd snsiikdrls etvrqntkff
       61 fdpvrkcngq pvpfqqpkhf tggvmrwyqv egmewlrmlw engingilad emglgktvqc
      121 iatialmiqr gvpgpflvcg plstlpnwma efkrftpdip tmlyhgtqee rqklvrniyk
      181 rkgtlqihpv vitsfeiamr drnalqhcyw kylivdeghr iknmkcrlir elkrfnadnk
      241 llltgtplqn nlselwslln fllpdvfddl ksfeswfdit slsetaedii akereqnvlh
      301 mlhqiltpfl lrrlksdval evppkrevvv yaplskkqei fytaivnrti anmfgsseke
      361 tielsptgrp krrtrksiny skiddfpnel eklisqiqpe vdreravvev nipvesevnl
      421 klqnimmllr kccnhpylie ypidpvtqef kideelvtns gkflildrml pelkkrghkv
      481 llfsqmtsml dilmdychlr dfnfsrldgs msysereknm hsfntdpevf iflvstragg
      541 lginltaadt viiydsdwnp qsdlqaqdrc hrigqtkpvv vyrlvtanti dqkiveraaa
      601 krklekliih knhfkggqsg lnlsknfldp kelmellksr dyereikgsr ekvisdkdle
      661 llldrsdlid qmnasgpike kmgifkilen sedsspeclf
//
LOCUS       NP_001372327             462 aa            linear   PRI 29-DEC-2022
DEFINITION  rho GTPase-activating protein 27 isoform s [Homo sapiens].
ACCESSION   NP_001372327
VERSION     NP_001372327.1
DBSOURCE    REFSEQ: accession NM_001385398.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 462)
  AUTHORS   Katoh Y and Katoh M.
  TITLE     Identification and characterization of ARHGAP27 gene in silico
  JOURNAL   Int J Mol Med 14 (5), 943-947 (2004)
   PUBMED   15492870
REFERENCE   2  (residues 1 to 462)
  AUTHORS   Sakakibara T, Nemoto Y, Nukiwa T and Takeshima H.
  TITLE     Identification and characterization of a novel Rho GTPase
            activating protein implicated in receptor-mediated endocytosis
  JOURNAL   FEBS Lett 566 (1-3), 294-300 (2004)
   PUBMED   15147912
REFERENCE   3  (residues 1 to 462)
  AUTHORS   Peck J, Douglas G 4th, Wu CH and Burbelo PD.
  TITLE     Human RhoGAP domain-containing proteins: structure, function and
            evolutionary relationships
  JOURNAL   FEBS Lett 528 (1-3), 27-34 (2002)
   PUBMED   12297274
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091132.16 and AC003070.2.
            
            Summary: This gene encodes a member of a large family of proteins
            that activate Rho-type guanosine triphosphate (GTP) metabolizing
            enzymes. The encoded protein may pay a role in clathrin-mediated
            endocytosis. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, Aug 2013].
            
            Transcript Variant: This variant (19), as well as variant 20,
            encodes isoform s.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853564.12324.1,
                                           SRR11853565.13104.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..462
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..462
                     /product="rho GTPase-activating protein 27 isoform s"
                     /note="SH3 domain containing 20; rho GTPase-activating
                     protein 27; CIN85-associated multi-domain-containing Rho
                     GTPase-activating protein 1; rho-type GTPase-activating
                     protein 27; SH3 domain-containing protein 20"
                     /calculated_mol_wt=52554
     Region          10..37
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Site            order(23,34)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          72..186
                     /region_name="PH_ARHGAP9-like"
                     /note="Beta-spectrin pleckstrin homology (PH) domain;
                     cd13233"
                     /db_xref="CDD:270053"
     Site            order(79,90,92..93,146..148)
                     /site_type="other"
                     /note="non-cannonial phosphoinositide binding site
                     [chemical binding]"
                     /db_xref="CDD:270053"
     Region          268..454
                     /region_name="RhoGAP_ARHGAP27_15_12_9"
                     /note="GTPase-activator protein (GAP) domain for Rho-like
                     GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15,
                     12 and 9-like proteins; This subgroup of ARHGAPs are
                     multidomain proteins that contain RhoGAP, PH, SH3 and WW
                     domains. Most members that are...; cd04403"
                     /db_xref="CDD:239868"
     Site            order(306,345,349,418,421..422,445)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239868"
     Site            306
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239868"
     CDS             1..462
                     /gene="ARHGAP27"
                     /gene_synonym="CAMGAP1; PP905; SH3D20; SH3P20"
                     /coded_by="NM_001385398.1:458..1846"
                     /note="isoform s is encoded by transcript variant 19"
                     /db_xref="GeneID:201176"
                     /db_xref="HGNC:HGNC:31813"
                     /db_xref="MIM:610591"
ORIGIN      
        1 mlytnhftqe qwvrledphg kpyfynpeds svrwelpqvp vpaprsihks sqdgdtpaqa
       61 sppeektktl dkagvlhrtk tadkgkrlrk khwsaswtvl eggvltffkd sktsaagglr
      121 qpskfstpey tvelrgatls wapkdkssrk nvlelrsrdg seyliqhdse aiistwhkai
      181 aqgiqelsae lppeesessr vdfgsserlg swqekeedar pnaaapalgp vglesdlskv
      241 rhklrkflqr rptlqslrek gyikdqvfgc alaalcerer srvprfvqqc iraveargld
      301 idglyrisgn latiqklryk vdhderldld dgrwedvhvi tgalklffre lpeplfpfsh
      361 frqfiaaikl qdqarrsrcv rdlvrslpap nhdtlrmlfq hlcrviehge qnrmsvqsva
      421 ivfgptllrp eveetsmpmt mvfqnqvvel ilqqcadifp ph
//
LOCUS       XP_011507625            1334 aa            linear   PRI 20-MAR-2023
DEFINITION  neurofascin isoform X14 [Homo sapiens].
ACCESSION   XP_011507625
VERSION     XP_011507625.3
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011509323.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_011507625.2.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1334
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1334
                     /product="neurofascin isoform X14"
                     /calculated_mol_wt=147992
     Region          118..212
                     /region_name="IgI_hNeurofascin_like"
                     /note="Immunoglobulin (Ig)-like domain of human
                     neurofascin (NF); member of the I-set of Ig superfamily
                     (IgSF) domains; cd05875"
                     /db_xref="CDD:409459"
     Region          118..122
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409459"
     Region          127..131
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409459"
     Region          136..143
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409459"
     Region          149..154
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409459"
     Region          157..159
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409459"
     Region          166..169
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409459"
     Region          174..178
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409459"
     Region          191..199
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409459"
     Region          202..212
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409459"
     Region          221..311
                     /region_name="IgI_2_L1-CAM_like"
                     /note="Second immunoglobulin (Ig)-like domain of the L1
                     cell adhesion molecule (CAM), and similar domains; member
                     of the I-set of Ig superfamily (IgSF) domains; cd05845"
                     /db_xref="CDD:409432"
     Region          221..224
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409432"
     Region          226..230
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409432"
     Region          233..241
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409432"
     Region          248..254
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409432"
     Region          257..260
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409432"
     Region          266..270
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409432"
     Region          272..276
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409432"
     Region          287..295
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409432"
     Region          298..311
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409432"
     Region          346..428
                     /region_name="Ig3_L1-CAM_like"
                     /note="Third immunoglobulin (Ig)-like domain of the L1
                     cell adhesion molecule (CAM), and similar domains;
                     cd05731"
                     /db_xref="CDD:409394"
     Region          358..362
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409394"
     Region          371..375
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409394"
     Region          393..397
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409394"
     Region          407..412
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409394"
     Region          420..423
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409394"
     Region          432..520
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          448..452
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          461..465
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          485..489
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          499..504
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          512..515
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          <544..612
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          555..559
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          578..582
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          592..597
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          605..608
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          622..703
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          633..637
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          648..652
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          669..673
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          683..688
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          696..699
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          722..812
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(722,788,803)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(804..805,807..808)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          823..913
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(903..904,906..907)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          919..1010
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(919,986,1001)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(1002..1003,1005..1006)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1108..1180
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          1226..1310
                     /region_name="Bravo_FIGEY"
                     /note="Bravo-like intracellular region; pfam13882"
                     /db_xref="CDD:433552"
     CDS             1..1334
                     /gene="NFASC"
                     /gene_synonym="NEDCPMD; NF; NRCAML"
                     /coded_by="XM_011509323.3:178..4182"
                     /db_xref="GeneID:23114"
                     /db_xref="HGNC:HGNC:29866"
                     /db_xref="MIM:609145"
ORIGIN      
        1 mnqtmapsge rlidlcaiwd agvylpsaaw nrassgvark rlneaeklsa vqeaqlkrle
       61 vtrprvlgsr eqgqvprmar qppppwvhaa fllcllslgg aieipmdpsi qneltqppti
      121 tkqsakdhiv dprdniliec eakgnpapsf hwtrnsrffn iakdprvsmr rrsgtlvidf
      181 rsggrpeeye geyqcfarnk fgtalsnrir lqvsksplwp kenldpvvvq egapltlqcn
      241 pppglpspvi fwmsssmepi tqdkrvsqgh ngdlyfsnvm lqdmqtdysc narfhfthti
      301 qqknpftlkv ltnhpyndss lrnhpdmysa rgvaertpsf mypqgtassq mvlrgmdlll
      361 eciasgvptp diawykkggd lpsdkakfen fnkalritnv seedsgeyfc lasnkmgsir
      421 htisvrvkaa pywldepknl ilapgedgrl vcrangnpkp tvqwmvngep lqsappnpnr
      481 evagdtiifr dtqissravy qcntsnehgy llanafvsvl dvpprmlspr nqlirvilyn
      541 rtrldcpffg spiptlrwfk ngqgsnldgg nyhvyengsl eikmirkedq giytcvatni
      601 lgkaenqvrl evkdptriyr mpedqvarrg ttvqlecrvk hdpslkltvs wlkddeplyi
      661 gnrmkkedds ltifgvaerd qgsytcvast eldqdlakay ltvladqatp tnrlaalpkg
      721 rpdrprdlel tdlaersvrl twipgdanns pitdyvvqfe edqfqpgvwh dhskypgsvn
      781 savlrlspyv nyqfrviain evgsshpslp seryrtsgap pesnpgdvkg egtrknnmei
      841 twtpmnatsa fgpnlryivk wrrretreaw nnvtvwgsry vvgqtpvyvp yeirvqaend
      901 fgkgpepesv igysgedlps aprrfrvrqp nletinlewd hpehpngimi gytlkyvafn
      961 gtkvgkqive nfspnqtkft vqrtdpvsry rftlsartqv gsgeavtees pappneatpt
     1021 aapptlpptt vgatgavsst dataiaatte attvpiiptv apttiatttt vattttttaa
     1081 attttesppt ttsgtkihes apdeqsiwnv tvlpnskwan itwkhnfgpg tdfvveyids
     1141 nhtkktvpvk aqaqpiqltd lypgmtytlr vysrdnegis stvitfmtst aytnnqadia
     1201 tqgwfiglmc aiallvlill ivcfikrsrg gkypvrekkd vplgpedpke edgsfdysde
     1261 dnkplqgsqt sldgtikqqe sddslvdyge ggegqfnedg sfigqytvkk dkeetegnes
     1321 seatspvnai ysla
//
LOCUS       XP_047284414             882 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-dependent DNA helicase DDX11 isoform X21 [Homo sapiens].
ACCESSION   XP_047284414
VERSION     XP_047284414.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428458.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..882
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..882
                     /product="ATP-dependent DNA helicase DDX11 isoform X21"
                     /calculated_mol_wt=99105
     Region          240..864
                     /region_name="rad3"
                     /note="DNA repair helicase (rad3); TIGR00604"
                     /db_xref="CDD:273169"
     CDS             1..882
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /coded_by="XM_047428458.1:35..2683"
                     /db_xref="GeneID:1663"
                     /db_xref="HGNC:HGNC:2736"
                     /db_xref="MIM:601150"
ORIGIN      
        1 mvsasqkkge iwsmanetqk vgaihfpfpf tpysiqedfm aelyrvleag kigifesptg
       61 tgkslslicg alswlrdfeq kkreeearll etgtgplhde kdeslclsss cegaagtprp
      121 agepawvtqf vqkkeerdlv drlkaeqarr kqreerlqql qhrvqlkyaa krlrqeeeer
      181 enllrlsrem letgpeaerl eqlesgeeel vlaeyesdee kkvasrvded eddleeehit
      241 kiyycsrths qlaqfvhevk kspfgkdvrl vslgsrqnlc vnedvkslgs vqlindrcvd
      301 mqrsrhekkk gaeeekpkrr rqekqaacpf ynheqmgllr dealaevkdm eqllalgkea
      361 racpyygsrl aipaaqlvvl pyqmllhaat rqaagirlqd qvviideahn lidtitgmhs
      421 vevsgsqlcq ahsqllqyve rygkrlkakn lmylkqilyl lekfvavlgg nikqnpntqs
      481 lsqtgtelkt indflfqsqi dninlfkvqr yceksmisrk lfgfteryga vfssreqpkl
      541 agfqqflqsl qprttealaa padesqastl rpasplmhiq gflaalttan qdgrvilsrq
      601 gslsqstlkf lllnpavhfa qvvkecravv iaggtmqpaa gavetplllh svapgshvsq
      661 rklfcgfklk eknhdstfkr cltsgsscwp vpgwklsaww sfpvclaahl hlqfsappwl
      721 lpghvippdn ilplvicsgi snqpleftfq krelpqmmde vgrilcnlcg vvpggvvcff
      781 psyeylrqvh ahwekggllg rlaarkkifq epksahqveq vllaysrciq acgqergqvt
      841 galllsvvgg kmseginfsd nlgrpeppar hpqgrlwwrt ca
//
LOCUS       XP_016864057             119 aa            linear   PRI 20-MAR-2023
DEFINITION  probetacellulin isoform X3 [Homo sapiens].
ACCESSION   XP_016864057
VERSION     XP_016864057.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017008568.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..119
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..119
                     /product="probetacellulin isoform X3"
                     /calculated_mol_wt=12653
     CDS             1..119
                     /gene="BTC"
                     /coded_by="XM_017008568.2:199..558"
                     /db_xref="GeneID:685"
                     /db_xref="HGNC:HGNC:1121"
                     /db_xref="MIM:600345"
ORIGIN      
        1 mdraarcsga sslplllala lglvilhcvv adgnstrspe tngllcgdpe encagvisdl
       61 kkrkqntdql kkwgaveksl lysletsmnw eyddlvqtap flapsgscnr arntlskss
//
LOCUS       XP_047272249             422 aa            linear   PRI 20-MAR-2023
DEFINITION  endosomal/lysosomal proton channel TMEM175 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047272249
VERSION     XP_047272249.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416293.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..422
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..422
                     /product="endosomal/lysosomal proton channel TMEM175
                     isoform X3"
                     /calculated_mol_wt=46431
     Region          <1..42
                     /region_name="DUF1211"
                     /note="Protein of unknown function (DUF1211); pfam06736"
                     /db_xref="CDD:429088"
     Region          178..274
                     /region_name="DUF1211"
                     /note="Protein of unknown function (DUF1211); pfam06736"
                     /db_xref="CDD:429088"
     CDS             1..422
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /coded_by="XM_047416293.1:345..1613"
                     /db_xref="GeneID:84286"
                     /db_xref="HGNC:HGNC:28709"
                     /db_xref="MIM:616660"
ORIGIN      
        1 mtflivtvaw aahtrlfqvv gktddtlall nlacmmtitf lpytfslmvt fpdvplgifl
       61 fcvcviaigv vqalivgyaf hfphllspqi qrsahralyr rhvlgivlqg palcfaaaif
      121 slffvplsyl lmvtvillpy vskvtgwcrd rllghrepsa hpvevfsfdl heplskerve
      181 afsdgvyaiv atllildice dnvpdpkdvk erfsgslvaa lsatgprfla yfgsfatvgl
      241 lwfahhslfl hvrkatramg llntlslafv gglplayqqt safarqprde lervrvscti
      301 iflasifqla mwttallhqa etlqpsvwfg grehvlmfak lalypcasll afastcllsr
      361 fsvgifhlmq iavpcaflll rllvglalat lrvlrglarp ehpppaptgq ddpqsqllpa
      421 pc
//
LOCUS       XP_011512254            1581 aa            linear   PRI 20-MAR-2023
DEFINITION  maestro heat-like repeat-containing protein family member 2B
            isoform X1 [Homo sapiens].
ACCESSION   XP_011512254
VERSION     XP_011512254.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011513952.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 9% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1581
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..1581
                     /product="maestro heat-like repeat-containing protein
                     family member 2B isoform X1"
                     /calculated_mol_wt=180050
     Region          1306..1329
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(1321..1322,1325,1328..1329,1359..1360,1367,
                     1370..1371,1374,1405..1406,1409,1412..1413,1423,
                     1450..1451,1454,1457..1458)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          1341..1374
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          1387..1424
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          1433..1458
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     CDS             1..1581
                     /gene="MROH2B"
                     /gene_synonym="HEATR7B2; SPIF"
                     /coded_by="XM_011513952.2:491..5236"
                     /db_xref="GeneID:133558"
                     /db_xref="HGNC:HGNC:26857"
ORIGIN      
        1 mtlsteesie mfgdinltlg mlnkedivnk ediyshltsv iqntdildda ivqrliyyas
       61 kdmrdnnmlr eirmlagevl vslaahdfns vmyevqsnfr ilelpdefvv lalaelatsy
      121 vsqsipfmmm tlltmqtmlr laedermkgt fcialekfsk aiykyvnhwr dfpyprldan
      181 rlsdkifmlf wyimekwapl aspmqtlsiv kahgptvsll lhredfrgya lgqvpwllnq
      241 ykdkeidfhv tqslkqilta avlydiglpr slrrsifinl lqqicrapep pvkenemkas
      301 scflilahsn pgelmeffde qvrsnneair vgiltllrla vnadeprlrd hiisiertvk
      361 ivmgdlstkv rnsvllliqt mceksyiear egwplidyvf sqfatlnrnl ekpvktnfhe
      421 nekeeesvre tslevlktld plvigmpqvl wpriltfvvp aeytealepl fsiirilima
      481 eekkqhsake stalvvstga vklpspqqll arllvismpa slgelrgaga igllkilpei
      541 ihpklvdlwk trlpellqpl egknistvlw etmllqllke slwkisdvaw tiqltqdfkq
      601 qmgsysnnst ekkflwkalg ttlaccqdsd fvnsqikefl tapnqlgdqr qgitsilgyc
      661 aenhldivlk vlktfqnqek ffmnrckslf sgkksltktd vmviygaval hapkkqllsr
      721 lnqdiisqvl slhgqcsqvl gmsvmnkdmd lqmsftrsit eigiavqdae dqgfqfsyke
      781 mligymldfi rdepldslas pirwkaliai rylsklkpql slqdhlnile enirrllplp
      841 plenlksegq tdkdkehiqf lyersmdalg kllktmmwdn vnaedcqemf nllqmwlvsq
      901 kewererafq itakvltndi eapenfkigs llgllaphsc dtlptirqaa asstiglfyi
      961 kgihleverl qglqeglesd dvqvqikiss kiakivskfi pneeilmfle emldglesln
     1021 ptctkacgiw mitvlkqqga aledqlleil gtiyhhmpvl rqkeesfqfi leaisqiasf
     1081 hmdtvvvnll qkplpfdrdt ktlwkalaek passgkllqa lidkletele ddiarveais
     1141 vacamyevis mgtsvtglyp elftlllklv sctlgqkmlt cpwshrrhvm qqgeqqqipd
     1201 pcrlstatlk clqaqamreg lakesdegdn lwtllsspst hhigvcslar smavwqhgvi
     1261 ldimeqllss ltsssenyri tgaaffselm kepilwkhgn lrnvlilmdq sawdsnatlr
     1321 qmairglgnt asgaphkvkk hkqlmlesii rglyhlarte vvceslkalk kilelltdrd
     1381 vsfyfkeivl qtrtffedeq ddvrltaifl fedlapltgr rwkiffaeei kkslisfllh
     1441 lwdpnpkigv acrdvlmvci pflglqelyg vldrlldqdl prardfyrqf cvklakknqe
     1501 ilwilhthsf tfftstwevi rsaavkltda vvlnltsqyv elldreqltt htrispgyka
     1561 issssplqas etpidydfpi a
//
LOCUS       XP_047273665             113 aa            linear   PRI 20-MAR-2023
DEFINITION  histone deacetylase complex subunit SAP30L isoform X1 [Homo
            sapiens].
ACCESSION   XP_047273665
VERSION     XP_047273665.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417709.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..113
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..113
                     /product="histone deacetylase complex subunit SAP30L
                     isoform X1"
                     /calculated_mol_wt=12262
     Region          24..95
                     /region_name="zf-SAP30"
                     /note="SAP30 zinc-finger; pfam13866"
                     /db_xref="CDD:404707"
     CDS             1..113
                     /gene="SAP30L"
                     /gene_synonym="NS4ATP2"
                     /coded_by="XM_047417709.1:609..950"
                     /db_xref="GeneID:79685"
                     /db_xref="HGNC:HGNC:25663"
                     /db_xref="MIM:610398"
ORIGIN      
        1 mngfsteeds regppaapaa aapgygqscc liedgercvr pagnasfskr vqksisqkkl
       61 kldidksvrh lyicdfhknf iqsvrnkrkr ktsddggdsp ehdtdipecs ppa
//
LOCUS       XP_047278735             239 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylinositol 4-phosphate 5-kinase-like protein 1 isoform X4
            [Homo sapiens].
ACCESSION   XP_047278735
VERSION     XP_047278735.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422779.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..239
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..239
                     /product="phosphatidylinositol 4-phosphate 5-kinase-like
                     protein 1 isoform X4"
                     /calculated_mol_wt=25436
     Region          <50..>88
                     /region_name="PIPKc"
                     /note="Phosphatidylinositol phosphate kinase (PIPK)
                     catalytic domain family; cl28923"
                     /db_xref="CDD:452901"
     CDS             1..239
                     /gene="PIP5KL1"
                     /gene_synonym="PIPKH"
                     /coded_by="XM_047422779.1:104..823"
                     /db_xref="GeneID:138429"
                     /db_xref="HGNC:HGNC:28711"
                     /db_xref="MIM:612865"
ORIGIN      
        1 mhpglwslgi lirrplpfqe ctvcgwtger rrtssscras stppaasprg pqrswflrqm
       61 eldttflrel nvldysllia fqrlhederg pgsslifrta rtltssslap ssclhlssgl
      121 ckghrarksr epktagccpt pptpytswtg pssaiswasw ispqstgsas gwstcgrhca
      181 tqagpsplsa rlatpvasas gwrrtrsdgr paplsgsgrw aharnagspg pghlacass
//
LOCUS       XP_047299580             113 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box only protein 25-like [Homo sapiens].
ACCESSION   XP_047299580
VERSION     XP_047299580.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047443624.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 7% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..113
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..113
                     /product="F-box only protein 25-like"
                     /calculated_mol_wt=13053
     CDS             1..113
                     /gene="LOC124905682"
                     /coded_by="XM_047443624.1:298..639"
                     /db_xref="GeneID:124905682"
ORIGIN      
        1 mkislkkyfn riclyfsiln seegeifnne eheyaskkrk rtilemtqil krhgyctlge
       61 afnrldfssa iqdirrfnyv vkgqmlftqg rrspsvlasl stscvqisvp clf
//
LOCUS       XP_054235623            1399 aa            linear   PRI 20-MAR-2023
DEFINITION  capping protein, Arp2/3 and myosin-I linker protein 2 isoform X3
            [Homo sapiens].
ACCESSION   XP_054235623
VERSION     XP_054235623.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379648.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1399
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1399
                     /product="capping protein, Arp2/3 and myosin-I linker
                     protein 2 isoform X3"
                     /calculated_mol_wt=150987
     CDS             1..1399
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /coded_by="XM_054379648.1:104..4303"
                     /db_xref="GeneID:146206"
                     /db_xref="HGNC:HGNC:27089"
                     /db_xref="MIM:610859"
ORIGIN      
        1 maqtpdgisc elrgeitrfl wpkevelllk twlpgegavq nhvlallrwr ayllhttclp
       61 lrvdctfsyl evqamalqet ppqvtfeles lrelvlefpg vaaleqlaqh vaaaikkvfp
      121 rstlgklfrr ptpasmlarl ersspsestd pcspcggfle tyealcdyng fpfreeiqwd
      181 mdtiyhrqgc rhfslgdfsh lgsrdlalsv aalsynlwfr clscvdmklv rgfgslevse
      241 qilhmmsqss hleelvletc slrgdfvrrl aqalaghsss glrelslagn llddrgmtal
      301 srhlercpga lrrlslaqtg ltprgmralg ralatnaafd stlthldlsg npgalgased
      361 sgglysflsr pnvlsflnla gtdtaldtlf aavsrgccts lthldasrnv fsrtksraap
      421 aalqlflsra rtlrhlglag cklppdalra lldglalnth lrdlhldlsa celrsagaqv
      481 iqdlvcdaga vssldladng fgsdmvtlvl aigrsrslrh valgrnfnvr cketlddvlh
      541 rivqlmqddd cplqslsvae srlklgasvl lralatnpnl taldisgnam gdagakllak
      601 alrvnsrlrs vvwdrnhtsa lglldvaqal eqnhslkamp lplndvaqaq rsrpeltara
      661 vhqiqacllr nnradpassd httrlqplgl vsdpseqevn elcqsvqehv ellgcgagpq
      721 geaavrqaed aiqnanfsls ilpilyeags spshhwqlgq klegllrqvg evcrqdiqdf
      781 tqatldtars lcpqmlqgss wreqlegvla gsrglpellp eqllqdaftr lrdmrlsitg
      841 tlaesivaqa laglsaardq lveslaqqat vtmppalpap dggepsllep geleglffpe
      901 ekeeekekdd sppqkwpels hglhlvpfih saaeeaepep elaapgedae pqagpsargs
      961 pspaapgppa gplprmdlpl agqplrhptr arprprrqhh hrpppggpqv ppalpqegng
     1021 lsarvdegve effskrliqq drlwapeedp ateggatpvp rtlrkklgtl fafkkprstr
     1081 gprtdletsp gaaprtrktt fgdllrpptr psrgeelgga egdtsspdpa grsrprytrd
     1141 skaysmillp aeeeatlgar pdkrrplerg etelapsfeq rvqvmlqrig vsrgsggaeg
     1201 krkqskdgei kkagsdgdim dssteappis iksrthsvsa dpscrpgpgs qgpesatwkt
     1261 lgqqlnaelr srgwgqqdgp gppspgqsps pcrtspspds lglpedpclg prnegrravs
     1321 vhedqlqapa aflcplerpl rlqrspvlkr rpkleappsp slgsglgtep lppqptepss
     1381 persppspat dqrgggpnp
//
LOCUS       XP_054236494             444 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA binding protein fox-1 homolog 1 isoform X6 [Homo sapiens].
ACCESSION   XP_054236494
VERSION     XP_054236494.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380519.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..444
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..444
                     /product="RNA binding protein fox-1 homolog 1 isoform X6"
                     /calculated_mol_wt=47514
     CDS             1..444
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /coded_by="XM_054380519.1:158..1492"
                     /db_xref="GeneID:54715"
                     /db_xref="HGNC:HGNC:18222"
                     /db_xref="MIM:605104"
ORIGIN      
        1 mlasqgvllh pygvpmivpa apylpgliqg nqeaaaapdt maqpyasaqf appqngipae
       61 ytaphphpap eytgqttvpe htlnlyppaq thseqspadt saqtvsgtat qtddaaptdg
      121 qpqtqpsent enksqpkrlh vsnipfrfrd pdlrqmfgqf gkildveiif nergskgfgf
      181 vtfensadad rareklhgtv vegrkievnn atarvmtnkk tvnpytngwk lnpvvgavys
      241 pefyagtvll cqanqegssm ysapsslvyt sampgfpypa ataaaayrga hlrgrgrtvy
      301 ntfraaappp pipayggvvy qepvygnkll qggyaayrya qptpataaay sdrnqfvfva
      361 adeiscntsa vtdefmlptp ttthllqppp talvpcpkvp apaqtseels ctlpglccqa
      421 aenltasppl lqfmfkviva qerk
//
LOCUS       NP_000296                354 aa            linear   PRI 03-APR-2023
DEFINITION  serum paraoxonase/arylesterase 2 isoform 1 [Homo sapiens].
ACCESSION   NP_000296
VERSION     NP_000296.2
DBSOURCE    REFSEQ: accession NM_000305.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 354)
  AUTHORS   Ye Y, Zhang J, Guo Y, Zhu J, Tang B and Fan P.
  TITLE     PON2 ameliorates Ang II-induced cardiomyocyte injury by targeting
            the CANX/NOX4 signaling pathway
  JOURNAL   Immun Inflamm Dis 11 (2), e765 (2023)
   PUBMED   36840500
  REMARK    GeneRIF: PON2 ameliorates Ang II-induced cardiomyocyte injury by
            targeting the CANX/NOX4 signaling pathway.
REFERENCE   2  (residues 1 to 354)
  AUTHORS   Karlov VD, Pestov NB, Shakhparonov MI and Korneenko TV.
  TITLE     Interactome of Paraoxonase PON2 Reveals New Pathways for Tumor
            Growth Regulation
  JOURNAL   Dokl Biochem Biophys 508 (1), 31-36 (2023)
   PUBMED   36653584
  REMARK    GeneRIF: Interactome of Paraoxonase PON2 Reveals New Pathways for
            Tumor Growth Regulation.
REFERENCE   3  (residues 1 to 354)
  AUTHORS   Campagna R, Belloni A, Pozzi V, Salvucci A, Notarstefano V, Togni
            L, Mascitti M, Sartini D, Giorgini E, Salvolini E, Santarelli A, Lo
            Muzio L and Emanuelli M.
  TITLE     Role Played by Paraoxonase-2 Enzyme in Cell Viability,
            Proliferation and Sensitivity to Chemotherapy of Oral Squamous Cell
            Carcinoma Cell Lines
  JOURNAL   Int J Mol Sci 24 (1), 338 (2022)
   PUBMED   36613780
  REMARK    GeneRIF: Role Played by Paraoxonase-2 Enzyme in Cell Viability,
            Proliferation and Sensitivity to Chemotherapy of Oral Squamous Cell
            Carcinoma Cell Lines.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 354)
  AUTHORS   Kumari S, Singh R, Chandra S, Mehndiratta M, Debnath E and Dhamija
            RK.
  TITLE     Association of Paraoxonase-2 (C1053G) Gene Polymorphism with the
            Expression of Paraoxonase-2 Gene in Patients of Ischemic Stroke - A
            Pilot Study in Indian Population
  JOURNAL   Neurol India 70 (4), 1575-1579 (2022)
   PUBMED   36076661
  REMARK    GeneRIF: Association of Paraoxonase-2 (C1053G) Gene Polymorphism
            with the Expression of Paraoxonase-2 Gene in Patients of Ischemic
            Stroke - A Pilot Study in Indian Population.
REFERENCE   5  (residues 1 to 354)
  AUTHORS   Paszek E, Godlewski J, Wolkow P, Zmudka K, Slowik A, Legutko J and
            Kleczynski P.
  TITLE     Paraoxonase 2 C311S single nucleotide polymorphism is associated
            with type C lesions in coronary atherosclerosis
  JOURNAL   Clin Biochem 105-106, 64-69 (2022)
   PUBMED   35460610
  REMARK    GeneRIF: Paraoxonase 2 C311S single nucleotide polymorphism is
            associated with type C lesions in coronary atherosclerosis.
REFERENCE   6  (residues 1 to 354)
  AUTHORS   Ng CJ, Shih DM, Hama SY, Villa N, Navab M and Reddy ST.
  TITLE     The paraoxonase gene family and atherosclerosis
  JOURNAL   Free Radic Biol Med 38 (2), 153-163 (2005)
   PUBMED   15607899
  REMARK    Review article
REFERENCE   7  (residues 1 to 354)
  AUTHORS   Mochizuki H, Scherer SW, Xi T, Nickle DC, Majer M, Huizenga JJ,
            Tsui LC and Prochazka M.
  TITLE     Human PON2 gene at 7q21.3: cloning, multiple mRNA forms, and
            missense polymorphisms in the coding sequence
  JOURNAL   Gene 213 (1-2), 149-157 (1998)
   PUBMED   9714608
REFERENCE   8  (residues 1 to 354)
  AUTHORS   Sanghera DK, Aston CE, Saha N and Kamboh MI.
  TITLE     DNA polymorphisms in two paraoxonase genes (PON1 and PON2) are
            associated with the risk of coronary heart disease
  JOURNAL   Am J Hum Genet 62 (1), 36-44 (1998)
   PUBMED   9443862
REFERENCE   9  (residues 1 to 354)
  AUTHORS   Hegele RA, Connelly PW, Scherer SW, Hanley AJ, Harris SB, Tsui LC
            and Zinman B.
  TITLE     Paraoxonase-2 gene (PON2) G148 variant associated with elevated
            fasting plasma glucose in noninsulin-dependent diabetes mellitus
  JOURNAL   J Clin Endocrinol Metab 82 (10), 3373-3377 (1997)
   PUBMED   9329371
REFERENCE   10 (residues 1 to 354)
  AUTHORS   Primo-Parmo SL, Sorenson RC, Teiber J and La Du BN.
  TITLE     The human serum paraoxonase/arylesterase gene (PON1) is one member
            of a multigene family
  JOURNAL   Genomics 33 (3), 498-507 (1996)
   PUBMED   8661009
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB961097.1, AF001601.1 and
            BC040010.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 24, 2005 this sequence version replaced NP_000296.1.
            
            Summary: This gene encodes a member of the paraoxonase gene family,
            which includes three known members located adjacent to each other
            on the long arm of chromosome 7. The encoded protein is
            ubiquitously expressed in human tissues, membrane-bound, and may
            act as a cellular antioxidant, protecting cells from oxidative
            stress. Hydrolytic activity against acylhomoserine lactones,
            important bacterial quorum-sensing mediators, suggests the encoded
            protein may also play a role in defense responses to pathogenic
            bacteria. Mutations in this gene may be associated with vascular
            disease and a number of quantitative phenotypes related to
            diabetes. Alternatively spliced transcript variants encoding
            different isoforms have been described. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF001601.1, AK301313.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
                                                (PMID:15607899)
            MANE Ensembl match               :: ENST00000222572.8/
                                                ENSP00000222572.3
            RefSeq Select criteria           :: based on conservation,
                                                expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.3"
     Protein         1..354
                     /product="serum paraoxonase/arylesterase 2 isoform 1"
                     /EC_number="3.1.1.2"
                     /EC_number="3.1.1.81"
                     /note="paraoxonase nirs; serum paraoxonase/arylesterase 2;
                     aromatic esterase 2; A-esterase 2; serum
                     aryldialkylphosphatase 2; PON 2"
                     /calculated_mol_wt=39250
     Region          167..252
                     /region_name="Arylesterase"
                     /note="pfam01731"
                     /db_xref="CDD:334656"
     Site            254
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q15165.4)"
     Site            269
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15165.4)"
     Site            323
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15165.4)"
     CDS             1..354
                     /gene="PON2"
                     /coded_by="NM_000305.3:78..1142"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5640.1"
                     /db_xref="GeneID:5445"
                     /db_xref="HGNC:HGNC:9205"
                     /db_xref="MIM:602447"
ORIGIN      
        1 mgrlvavgll gialallger llalrnrlka srevesvdlp hchlikgiea gsedidilpn
       61 glaffsvglk fpglhsfapd kpggilmmdl keekprarel risrgfdlas fnphgistfi
      121 dnddtvylfv vnhpefkntv eifkfeeaen sllhlktvkh ellpsvndit avgpahfyat
      181 ndhyfsdpfl kyletylnlh wanvvyyspn evkvvaegfd sanginispd dkyiyvadil
      241 aheihvlekh tnmnltqlkv leldtlvdnl sidpssgdiw vgchpngqkl fvydpnnpps
      301 sevlriqnil sekptvttvy anngsvlqgs svasvydgkl ligtlyhral ycel
//
LOCUS       NP_001847               1604 aa            linear   PRI 18-DEC-2022
DEFINITION  collagen alpha-1(XVI) chain precursor [Homo sapiens].
ACCESSION   NP_001847
VERSION     NP_001847.3
DBSOURCE    REFSEQ: accession NM_001856.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1604)
  AUTHORS   Glavey SV, Naba A, Manier S, Clauser K, Tahri S, Park J, Reagan MR,
            Moschetta M, Mishima Y, Gambella M, Rocci A, Sacco A, O'Dwyer ME,
            Asara JM, Palumbo A, Roccaro AM, Hynes RO and Ghobrial IM.
  TITLE     Proteomic characterization of human multiple myeloma bone marrow
            extracellular matrix
  JOURNAL   Leukemia 31 (11), 2426-2434 (2017)
   PUBMED   28344315
REFERENCE   2  (residues 1 to 1604)
  AUTHORS   Naba A, Pearce OMT, Del Rosario A, Ma D, Ding H, Rajeeve V,
            Cutillas PR, Balkwill FR and Hynes RO.
  TITLE     Characterization of the Extracellular Matrix of Normal and Diseased
            Tissues Using Proteomics
  JOURNAL   J Proteome Res 16 (8), 3083-3091 (2017)
   PUBMED   28675934
REFERENCE   3  (residues 1 to 1604)
  AUTHORS   Ragelle H, Naba A, Larson BL, Zhou F, Prijic M, Whittaker CA, Del
            Rosario A, Langer R, Hynes RO and Anderson DG.
  TITLE     Comprehensive proteomic characterization of stem cell-derived
            extracellular matrices
  JOURNAL   Biomaterials 128, 147-159 (2017)
   PUBMED   28327460
REFERENCE   4  (residues 1 to 1604)
  AUTHORS   Barallobre-Barreiro J, Oklu R, Lynch M, Fava M, Baig F, Yin X,
            Barwari T, Potier DN, Albadawi H, Jahangiri M, Porter KE, Watkins
            MT, Misra S, Stoughton J and Mayr M.
  TITLE     Extracellular matrix remodelling in response to venous
            hypertension: proteomics of human varicose veins
  JOURNAL   Cardiovasc Res 110 (3), 419-430 (2016)
   PUBMED   27068509
REFERENCE   5  (residues 1 to 1604)
  AUTHORS   Bedal KB, Grassel S, Spanier G, Reichert TE and Bauer RJ.
  TITLE     The NC11 domain of human collagen XVI induces vasculogenic mimicry
            in oral squamous cell carcinoma cells
  JOURNAL   Carcinogenesis 36 (11), 1429-1439 (2015)
   PUBMED   26424749
  REMARK    GeneRIF: The NC11 domain of collagen XVI is a potential biomarker
            for oral squamous cell carcinoma and triggers vasculogenic mimicry
            via upregulation of endothelial receptors VEGFR1, VEGFR2 and uPAR.
REFERENCE   6  (residues 1 to 1604)
  AUTHORS   Grassel S, Timpl R, Tan EM and Chu ML.
  TITLE     Biosynthesis and processing of type XVI collagen in human
            fibroblasts and smooth muscle cells
  JOURNAL   Eur J Biochem 242 (3), 576-584 (1996)
   PUBMED   9022684
REFERENCE   7  (residues 1 to 1604)
  AUTHORS   Tillet E, Mann K, Nischt R, Pan TC, Chu ML and Timpl R.
  TITLE     Recombinant analysis of human alpha 1 (XVI) collagen. Evidence for
            processing of the N-terminal globular domain
  JOURNAL   Eur J Biochem 228 (1), 160-168 (1995)
   PUBMED   7882999
REFERENCE   8  (residues 1 to 1604)
  AUTHORS   Sires UI, Dublet B, Aubert-Foucher E, van der Rest M and Welgus HG.
  TITLE     Degradation of the COL1 domain of type XIV collagen by 92-kDa
            gelatinase
  JOURNAL   J Biol Chem 270 (3), 1062-1067 (1995)
   PUBMED   7836360
REFERENCE   9  (residues 1 to 1604)
  AUTHORS   Yamaguchi N, Kimura S, McBride OW, Hori H, Yamada Y, Kanamori T,
            Yamakoshi H and Nagai Y.
  TITLE     Molecular cloning and partial characterization of a novel collagen
            chain, alpha 1(XVI), consisting of repetitive collagenous domains
            and cysteine-containing non-collagenous segments
  JOURNAL   J Biochem 112 (6), 856-863 (1992)
   PUBMED   1284248
REFERENCE   10 (residues 1 to 1604)
  AUTHORS   Pan TC, Zhang RZ, Mattei MG, Timpl R and Chu ML.
  TITLE     Cloning and chromosomal location of human alpha 1(XVI) collagen
  JOURNAL   Proc Natl Acad Sci U S A 89 (14), 6565-6569 (1992)
   PUBMED   1631157
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC064839.1, AC114488.3,
            M92642.1 and S57132.1.
            On May 25, 2006 this sequence version replaced NP_001847.2.
            
            Summary: This gene encodes the alpha chain of type XVI collagen, a
            member of the FACIT collagen family (fibril-associated collagens
            with interrupted helices). Members of this collagen family are
            found in association with fibril-forming collagens such as type I
            and II, and serve to maintain the integrity of the extracellular
            matrix. High levels of type XVI collagen have been found in
            fibroblasts and keratinocytes, and in smooth muscle and amnion.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373672.8/ ENSP00000362776.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1604
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.2"
     Protein         1..1604
                     /product="collagen alpha-1(XVI) chain precursor"
                     /note="collagen XVI, alpha-1 polypeptide; collagen
                     alpha-1(XVI) chain; alpha 1 type XVI collagen; collagen,
                     type XVI, alpha 1"
                     /calculated_mol_wt=155384
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2386
     Site            47
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q07092.2)"
     Region          50..231
                     /region_name="TSPN"
                     /note="Thrombospondin N-terminal -like domains;
                     smart00210"
                     /db_xref="CDD:214560"
     Region          232..374
                     /region_name="Nonhelical region 10 (NC10)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          301..509
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Site            327
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q07092.2)"
     Region          <337..>596
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          375..506
                     /region_name="Triple-helical region 9 (COL9) with 3
                     imperfections"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          507..521
                     /region_name="Nonhelical region 9 (NC9)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          <512..>802
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          522..555
                     /region_name="Triple-helical region 8 (COL8) with 1
                     imperfection"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          540..542
                     /region_name="Cell attachment site. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          556..572
                     /region_name="Nonhelical region 8 (NC8)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          573..631
                     /region_name="Triple-helical region 7 (COL7) with 1
                     imperfection"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          604..917
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          632..652
                     /region_name="Nonhelical region 7 (NC7)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          653..723
                     /region_name="Triple-helical region 6 (COL6) with 1
                     imperfection"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          724..738
                     /region_name="Nonhelical region 6 (NC6)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          <738..>875
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          739..876
                     /region_name="Triple-helical region 5 (COL5) with 3
                     imperfections"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          877..887
                     /region_name="Nonhelical region 5 (NC5)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          888..939
                     /region_name="Triple-helical region 4 (COL4) with 2
                     imperfections"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          940..973
                     /region_name="Nonhelical region 4 (NC4)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          974..988
                     /region_name="Triple-helical region 3 (COL3)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          989..1011
                     /region_name="Nonhelical region 3 (NC3)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          1001..1429
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          1006..1008
                     /region_name="Cell attachment site. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          1012..1433
                     /region_name="Triple-helical region 2 (COL2) with 2
                     imperfections"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          <1060..>1279
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          1227..1229
                     /region_name="Cell attachment site. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          <1245..>1524
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          1434..1472
                     /region_name="Nonhelical region 2 (NC2)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          1468..1517
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          1473..1578
                     /region_name="Triple-helical region 1 (COL1) with 2
                     imperfections"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     Region          1579..1604
                     /region_name="Nonhelical region 1 (NC1)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07092.2)"
     CDS             1..1604
                     /gene="COL16A1"
                     /gene_synonym="447AA; FP1572"
                     /coded_by="NM_001856.4:216..5030"
                     /db_xref="CCDS:CCDS41297.1"
                     /db_xref="GeneID:1307"
                     /db_xref="HGNC:HGNC:2193"
                     /db_xref="MIM:120326"
ORIGIN      
        1 mwvswapglw llglwatfgh gantgaqcpp sqqeglkleh ssslpanvtg fnlihrlslm
       61 ktsaikkirn pkgplilrlg aapvtqptrr vfprglpeef alvltlllkk hthqktwylf
      121 qvtdangypq islevnsqer slelraqgqd gdfvscifpv pqlfdlrwhk lmlsvagrva
      181 svhvdcssas sqplgprrpm rpvghvflgl daeqgkpvsf dlqqvhiycd pelvleegcc
      241 eilpagcppe tskarrdtqs nelieinpqs egkvytrcfc leepqnsevd aqltgrisqk
      301 aergakvhqe taadecppcv hgardsnvtl apsgpkggkg erglpgppgs kgekgargnd
      361 cvrispdapl qcaegpkgek gesgalgpsg lpgstgekgq kgekgdggik gvpgkpgrdg
      421 rpgeicvigp kgqkgdpgfv gpeglagepg ppglpgppgi glpgtpgdpg gppgpkgdkg
      481 ssgipgkegp ggkpgkpgvk gekgdpcevc ptlpegfqnf vglpgkpgpk gepgdpvpar
      541 gdpgiqgikg ekgepclscs svvgaqhlvs stgasgdvgs pgfglpglpg ragvpglkge
      601 kgnfgeagpa gspgppgpvg pagikgakge pcepcpalsn lqdgdvrvva lpgpsgekge
      661 pgppgfglpg kqgkagergl kgqkgdagnp gdpgtpgttg rpglsgepgv qgpagpkgek
      721 gdgctacpsl qgtvtdmagr pgqpgpkgeq gpegvgrpgk pgqpglpgvq gppglkgvqg
      781 epgppgrgvq gpqgepgapg lpgiqglpgp rgppgptgek gaqgspgvkg atgpvgppga
      841 svsgppgrdg qqgqtglrgt pgekgprgek gepgecscps qgdlifsgmp gapglwmgss
      901 wqpgpqgppg ipgppgppgv pglqgvpgnn glpgqpglta elgslpieqh llksicgdcv
      961 qgqrahpgyl vekgekgdqg ipgvpgldnc aqcflslerp raeeargdns egdpgcvgsp
     1021 glpgppglpg qrgeegppgm rgspgppgpi gppgfpgavg spglpglqge rgltgltgdk
     1081 gepgppgqpg ypgatgppgl pgikgergyt gsagekgepg ppgseglpgp pgpagprger
     1141 gpqgnsgekg dqgfqgqpgf pgppgppgfp gkvgspgppg pqaekgsegi rgpsglpgsp
     1201 gppgppgiqg pagldgldgk dgkpglrgdp gpagppglmg ppgfkgktgh pglpgpkgdc
     1261 gkpgppgstg rpgaegepga mgpqgrpgpp ghvgppgppg qpgpagisav glkgdrgatg
     1321 erglaglpgq pgppghpgpp gepgtdgaag kegppgkqgf ygppgpkgdp gaagqkgqag
     1381 ekgragmpgg pgksgsmgpv gppgpagerg hpgapgpsgs pglpgvpgsm gdmvnydeik
     1441 rfirqeiikm fdermayyts rmqfpmemaa apgrpgppgk dgapgrpgap gspglpgqig
     1501 regrqglpgv rglpgtkgek gdigigiage nglpgppgpq gppgygkmga tgpmgqqgip
     1561 gipgppgpmg qpgkaghcnp sdcfgampme qqyppmktmk gpfg
//
LOCUS       NP_006519                235 aa            linear   PRI 24-DEC-2022
DEFINITION  tissue factor pathway inhibitor 2 isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_006519
VERSION     NP_006519.1
DBSOURCE    REFSEQ: accession NM_006528.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 235)
  AUTHORS   Oberoi J, Guiu XA, Outwin EA, Schellenberger P, Roumeliotis TI,
            Choudhary JS and Pearl LH.
  TITLE     HSP90-CDC37-PP5 forms a structural platform for kinase
            dephosphorylation
  JOURNAL   Nat Commun 13 (1), 7343 (2022)
   PUBMED   36446791
  REMARK    GeneRIF: HSP90-CDC37-PP5 forms a structural platform for kinase
            dephosphorylation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 235)
  AUTHORS   Zhou C, Wan S, Zhao X, Gu S, Pei J, Wu Y, Han Z, Che R and Hua X.
  TITLE     Exosomal miR-195 in hUC-MSCs alleviates hypoxia-induced damage of
            trophoblast cells through tissue factor pathway inhibitor 2
  JOURNAL   Curr Res Transl Med 70 (4), 103352 (2022)
   PUBMED   35940082
  REMARK    GeneRIF: Exosomal miR-195 in hUC-MSCs alleviates hypoxia-induced
            damage of trophoblast cells through tissue factor pathway inhibitor
            2.
REFERENCE   3  (residues 1 to 235)
  AUTHORS   Yamanaka S, Miyake R, Yamada Y, Kawaguchi R, Ootake N, Myoba S and
            Kobayashi H.
  TITLE     Tissue Factor Pathway Inhibitor 2: A Novel Biomarker for Predicting
            Asymptomatic Venous Thromboembolism in Patients with Epithelial
            Ovarian Cancer
  JOURNAL   Gynecol Obstet Invest 87 (2), 133-140 (2022)
   PUBMED   35613543
  REMARK    GeneRIF: Tissue Factor Pathway Inhibitor 2: A Novel Biomarker for
            Predicting Asymptomatic Venous Thromboembolism in Patients with
            Epithelial Ovarian Cancer.
REFERENCE   4  (residues 1 to 235)
  AUTHORS   Hube F, Reverdiau P, Iochmann S, Cherpi-Antar C and Gruel Y.
  TITLE     Characterization and functional analysis of TFPI-2 gene promoter in
            a human choriocarcinoma cell line
  JOURNAL   Thromb Res 109 (4), 207-215 (2003)
   PUBMED   12757776
  REMARK    GeneRIF: the minimal TFPI2 promoter is located between -166 and
            -111 from the translation start site; three transcription
            initiation sites and several putative transcription factor binding
            sites were identified, and potential regulatory regions were
            characterized.
REFERENCE   5  (residues 1 to 235)
  AUTHORS   Kamei S, Kazama Y, Kuijper JL, Foster DC and Kisiel W.
  TITLE     Genomic structure and promoter activity of the human tissue factor
            pathway inhibitor-2 gene
  JOURNAL   Biochim Biophys Acta 1517 (3), 430-435 (2001)
   PUBMED   11342222
REFERENCE   6  (residues 1 to 235)
  AUTHORS   Petersen LC, Sprecher CA, Foster DC, Blumberg H, Hamamoto T and
            Kisiel W.
  TITLE     Inhibitory properties of a novel human Kunitz-type protease
            inhibitor homologous to tissue factor pathway inhibitor
  JOURNAL   Biochemistry 35 (1), 266-272 (1996)
   PUBMED   8555184
REFERENCE   7  (residues 1 to 235)
  AUTHORS   Miyagi Y, Koshikawa N, Yasumitsu H, Miyagi E, Hirahara F, Aoki I,
            Misugi K, Umeda M and Miyazaki K.
  TITLE     cDNA cloning and mRNA expression of a serine proteinase inhibitor
            secreted by cancer cells: identification as placental protein 5 and
            tissue factor pathway inhibitor-2
  JOURNAL   J Biochem 116 (5), 939-942 (1994)
   PUBMED   7896752
REFERENCE   8  (residues 1 to 235)
  AUTHORS   Sprecher CA, Kisiel W, Mathewes S and Foster DC.
  TITLE     Molecular cloning, expression, and partial characterization of a
            second human tissue-factor-pathway inhibitor
  JOURNAL   Proc Natl Acad Sci U S A 91 (8), 3353-3357 (1994)
   PUBMED   8159751
REFERENCE   9  (residues 1 to 235)
  AUTHORS   Butzow R, Huhtala ML, Bohn H, Virtanen I and Seppala M.
  TITLE     Purification and characterization of placental protein 5
  JOURNAL   Biochem Biophys Res Commun 150 (1), 483-490 (1988)
   PUBMED   3276312
  REMARK    Erratum:[Biochem Biophys Res Commun 1988 Feb 29;151(1):630-1]
REFERENCE   10 (residues 1 to 235)
  AUTHORS   Takayama,M., Soma,H., Saito,T., Isaka,K., Kashiwagi,H., Ogawa,T.,
            Suzuki,Y. and Sayama,S.
  TITLE     Circulating levels of placental protein 5 in normal and abnormal
            pregnancies
  JOURNAL   Gynecol Obstet Invest 16 (1), 13-26 (1983)
   PUBMED   6884838
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK129833.1 and AC002076.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the Kunitz-type serine
            proteinase inhibitor family. The protein can inhibit a variety of
            serine proteases including factor VIIa/tissue factor, factor Xa,
            plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has
            been identified as a tumor suppressor gene in several types of
            cancer. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK129833.1, BC005330.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149398, SAMEA2162568
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000222543.11/ ENSP00000222543.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..235
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.3"
     Protein         1..235
                     /product="tissue factor pathway inhibitor 2 isoform 1
                     precursor"
                     /note="placental protein 5; retinal pigment epithelium
                     cell factor 1"
                     /calculated_mol_wt=24640
     sig_peptide     1..22
                     /note="/evidence=ECO:0000269|PubMed:3276312,
                     ECO:0000269|PubMed:7872799; propagated from
                     UniProtKB/Swiss-Prot (P48307.1)"
                     /calculated_mol_wt=2312
     mat_peptide     23..235
                     /product="Tissue factor pathway inhibitor 2.
                     /id=PRO_0000016876"
                     /note="propagated from UniProtKB/Swiss-Prot (P48307.1)"
                     /calculated_mol_wt=24640
     Region          32..88
                     /region_name="Kunitz_TFPI2_1-like"
                     /note="Kunitz domain 1 (KD1) of tissue factor pathway
                     inhibitor 2 (TFPI2) and similar proteins; cd22616"
                     /db_xref="CDD:438659"
     Site            order(43..50,65,67,69)
                     /site_type="other"
                     /note="serine protease binding site [polypeptide binding]"
                     /db_xref="CDD:438659"
     Site            46..47
                     /site_type="other"
                     /note="Reactive bond. /evidence=ECO:0000250; propagated
                     from UniProtKB/Swiss-Prot (P48307.1)"
     Region          95..149
                     /region_name="Kunitz_BPTI"
                     /note="Kunitz/Bovine pancreatic trypsin inhibitor domain;
                     pfam00014"
                     /db_xref="CDD:425421"
     Site            order(103..107,109..111,126,130)
                     /site_type="other"
                     /note="putative serine protease binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438633"
     Site            107..108
                     /site_type="other"
                     /note="Reactive bond. /evidence=ECO:0000250; propagated
                     from UniProtKB/Swiss-Prot (P48307.1)"
     Site            116
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P48307.1)"
     Region          155..204
                     /region_name="Kunitz_TFPI1_TFPI2_3-like"
                     /note="Kunitz protease inhibitor (KPI) domain 3 (KPI-3 or
                     K3) of tissue factor pathway inhibitor (TFPI) and TFPI2,
                     and similar proteins; cd22615"
                     /db_xref="CDD:438658"
     Site            168..169
                     /site_type="other"
                     /note="Reactive bond. /evidence=ECO:0000250; propagated
                     from UniProtKB/Swiss-Prot (P48307.1)"
     Site            170
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P48307.1)"
     CDS             1..235
                     /gene="TFPI2"
                     /gene_synonym="PP5; REF1; TFPI-2"
                     /coded_by="NM_006528.4:76..783"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS5632.1"
                     /db_xref="GeneID:7980"
                     /db_xref="HGNC:HGNC:11761"
                     /db_xref="MIM:600033"
ORIGIN      
        1 mdparplgls illlflteaa lgdaaqeptg nnaeicllpl dygpcralll ryyydrytqs
       61 crqflyggce gnannfytwe acddacwrie kvpkvcrlqv svddqcegst ekyffnlssm
      121 tcekffsggc hrnrienrfp deatcmgfca pkkipsfcys pkdeglcsan vtryyfnpry
      181 rtcdaftytg cggndnnfvs redckracak alkkkkkmpk lrfasrirki rkkqf
//
LOCUS       NP_060666                421 aa            linear   PRI 24-DEC-2022
DEFINITION  trimethyllysine dioxygenase, mitochondrial isoform 1 precursor
            [Homo sapiens].
ACCESSION   NP_060666 XP_943796
VERSION     NP_060666.1
DBSOURCE    REFSEQ: accession NM_018196.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 421)
  AUTHORS   Wang Y, Reddy YV, Al Temimi AHK, Venselaar H, Nelissen FHT, Lenstra
            DC and Mecinovic J.
  TITLE     Investigating the active site of human trimethyllysine hydroxylase
  JOURNAL   Biochem J 476 (7), 1109-1119 (2019)
   PUBMED   30898847
  REMARK    GeneRIF: This work demonstrates the importance of the recognition
            sites that contribute to the enzymatic activity of TMLH: the
            Fe(II)-binding H242-D244-H389 residues, R391-R398 involved in 2OG
            binding and several residues (D231, N334 and the aromatic cage
            comprised of W221, Y217 and Y234) associated with binding of (2S)-N
            (epsilon)-trimethyllysine.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 421)
  AUTHORS   Chen C, Xie X, Wu X, Lu Y, Wang X, Wu W, Hu Y and Ding Q.
  TITLE     Complex recombination with deletion in the F8 and duplication in
            the TMLHE mediated by int22h copies during early embryogenesis
  JOURNAL   Thromb Haemost 117 (8), 1478-1485 (2017)
   PUBMED   28492696
  REMARK    GeneRIF: Case Report: complex recombination with deletion in the F8
            and duplication in the TMLHE mediated by int22h copies during early
            embryogenesis in proband's mother.
REFERENCE   3  (residues 1 to 421)
  AUTHORS   Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET,
            Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK,
            Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS,
            Rensvold JW, Taylor RW, Prokisch H, Kim JP, Coon JJ and Pagliarini
            DJ.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   4  (residues 1 to 421)
  AUTHORS   Nava C, Lamari F, Heron D, Mignot C, Rastetter A, Keren B, Cohen D,
            Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar
            A, Perisse D, Laurent C, Dupuits C, Gautier C, Gerard M, Huguet G,
            Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T,
            Brice A and Depienne C.
  TITLE     Analysis of the chromosome X exome in patients with autism spectrum
            disorders identified novel candidate genes, including TMLHE
  JOURNAL   Transl Psychiatry 2 (10), e179 (2012)
   PUBMED   23092983
  REMARK    GeneRIF: Study found 3 mutations in TMLHE to be associated with
            autism spectrum disorder, c.229C>T/p.Arg77X, c.730G>C/p.Asp244His,
            and c.1107G>T/p.Glu369Asp.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 421)
  AUTHORS   Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC,
            Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss
            TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P,
            Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD,
            Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS,
            Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel
            RP, Vaz FM and Beaudet AL.
  TITLE     A common X-linked inborn error of carnitine biosynthesis may be a
            risk factor for nondysmorphic autism
  JOURNAL   Proc Natl Acad Sci U S A 109 (21), 7974-7981 (2012)
   PUBMED   22566635
  REMARK    GeneRIF: TMLHE deficiency is common in control males and was not
            significantly increased in frequency in probands from simplex
            autism families, however, it was 2.82-fold more frequent in
            probands from male-male multiplex autism families.
REFERENCE   6  (residues 1 to 421)
  AUTHORS   Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT,
            Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z,
            German JR, Milosavljevic A, Sutcliffe JS, Cook EH Jr, Stankiewicz
            P, State MW and Beaudet AL.
  TITLE     Use of array CGH to detect exonic copy number variants throughout
            the genome in autism families detects a novel deletion in TMLHE
  JOURNAL   Hum Mol Genet 20 (22), 4360-4370 (2011)
   PUBMED   21865298
  REMARK    GeneRIF: Use of array CGH to detect exonic copy number variants
            throughout the genome in autism families detects a novel deletion
            in TMLHE.
REFERENCE   7  (residues 1 to 421)
  AUTHORS   Monfregola J, Napolitano G, Conte I, Cevenini A, Migliaccio C,
            D'Urso M and Ursini MV.
  TITLE     Functional characterization of the TMLH gene: promoter analysis, in
            situ hybridization, identification and mapping of alternative
            splicing variants
  JOURNAL   Gene 395 (1-2), 86-97 (2007)
   PUBMED   17408883
  REMARK    GeneRIF: By 5' and 3' RACE, we identified and mapped two
            alternative 5' TMLH first exons and seven alternative 3'-splice
            variants.
REFERENCE   8  (residues 1 to 421)
  AUTHORS   Monfregola J, Cevenini A, Terracciano A, van Vlies N, Arbucci S,
            Wanders RJ, D'Urso M, Vaz FM and Ursini MV.
  TITLE     Functional analysis of TMLH variants and definition of domains
            required for catalytic activity and mitochondrial targeting
  JOURNAL   J Cell Physiol 204 (3), 839-847 (2005)
   PUBMED   15754339
  REMARK    GeneRIF: C-terminal region of trimethyllysine hydroxylase, epsilon
            contains the main determinants for its enzymatic activity including
            a key H389 residue
REFERENCE   9  (residues 1 to 421)
  AUTHORS   Vaz FM, Ofman R, Westinga K, Back JW and Wanders RJ.
  TITLE     Molecular and Biochemical Characterization of Rat epsilon
            -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine
            Biosynthesis
  JOURNAL   J Biol Chem 276 (36), 33512-33517 (2001)
   PUBMED   11431483
REFERENCE   10 (residues 1 to 421)
  AUTHORS   Rogner UC, Heiss NS, Kioschis P, Wiemann S, Korn B and Poustka A.
  TITLE     Transcriptional analysis of the candidate region for incontinentia
            pigmenti (IP2) in Xq28
  JOURNAL   Genome Res 6 (10), 922-934 (1996)
   PUBMED   8908511
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB174485.1, AK001589.1 and
            BX571846.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 4, 2006 this sequence version replaced XP_943796.1.
            
            Summary: This gene encodes the protein trimethyllysine dioxygenase
            which is the first enzyme in the carnitine biosynthesis pathway.
            Carnitine play an essential role in the transport of activated
            fatty acids across the inner mitochondrial membrane. The encoded
            protein converts trimethyllysine into hydroxytrimethyllysine. A
            pseudogene of this gene is found on chromosome X. Alternate
            splicing results in multiple transcript variants.[provided by
            RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.2538.1, SRR1803611.712.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000334398.8/
                                                  ENSP00000335261.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..421
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..421
                     /product="trimethyllysine dioxygenase, mitochondrial
                     isoform 1 precursor"
                     /EC_number="1.14.11.8"
                     /note="butyrobetaine (gamma), 2-oxoglutarate dioxygenase
                     (gamma-butyrobetaine hydroxylase) 2; trimethyllysine
                     dioxygenase, mitochondrial; TML hydroxylase;
                     TML-alpha-ketoglutarate dioxygenase;
                     epsilon-trimethyllysine 2-oxoglutarate dioxygenase;
                     epsilon-trimethyllysine hydroxylase"
                     /calculated_mol_wt=47557
     transit_peptide 1..15
                     /calculated_mol_wt=1979
     mat_peptide     16..421
                     /product="trimethyllysine dioxygenase, mitochondrial
                     isoform 1"
                     /calculated_mol_wt=47557
     Region          70..419
                     /region_name="carnitine_TMLD"
                     /note="trimethyllysine dioxygenase; TIGR02410"
                     /db_xref="CDD:274119"
     Site            179
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q91ZE0; propagated from
                     UniProtKB/Swiss-Prot (Q9NVH6.1)"
     Site            order(211..212,245,247,252,302,402,404)
                     /site_type="other"
                     /note="substrate binding pocket [chemical binding]"
                     /db_xref="CDD:238154"
     Site            236
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9NVH6.1)"
     Site            order(242,244,269,389,398)
                     /site_type="active"
                     /db_xref="CDD:238154"
     Site            order(242,244,389)
                     /site_type="other"
                     /note="iron coordination sites [ion binding]"
                     /db_xref="CDD:238154"
     CDS             1..421
                     /gene="TMLHE"
                     /gene_synonym="AUTSX6; BBOX2; TMLD; TMLH; TMLHED; XAP130"
                     /coded_by="NM_018196.4:163..1428"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS14768.1"
                     /db_xref="GeneID:55217"
                     /db_xref="HGNC:HGNC:18308"
                     /db_xref="MIM:300777"
ORIGIN      
        1 mwyhrlshlh srlqdllkgg viypalpqpn fksllplavh whhtaskslt cawqqhedhf
       61 elkyantvmr fdyvwlrdhc rsascynskt hqrsldtasv dlcikpktir ldettlfftw
      121 pdghvtkydl nwlvknsyeg qkqkviqpri lwnaeiyqqa qvpsvdcqsf letneglkkf
      181 lqnfllygia fvenvpptqe hteklaeris liretiygrm wyftsdfsrg dtaytklald
      241 rhtdttyfqe pcgiqvfhcl khegtggrtl lvdgfyaaeq vlqkapeefe llskvplkhe
      301 yiedvgechn hmigigpvln iypwnkelyl irynnydrav intvpydvvh rwytahrtlt
      361 ielrrpenef wvklkpgrvl fidnwrvlhg recftgyrql cgcyltrddv lntarllglq
      421 a
//
LOCUS       NP_001353817             210 aa            linear   PRI 24-DEC-2022
DEFINITION  glycosyltransferase 1 domain-containing protein 1 isoform 4 [Homo
            sapiens].
ACCESSION   NP_001353817
VERSION     NP_001353817.1
DBSOURCE    REFSEQ: accession NM_001366888.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 210)
  AUTHORS   Liu X, Zhang Y, Han Y, Lu W, Yang J, Tian J, Sun P, Yu T, Hu Y,
            Zhang H, Huang P and Liu P.
  TITLE     Overexpression of GLT1D1 induces immunosuppression through
            glycosylation of PD-L1 and predicts poor prognosis in B-cell
            lymphoma
  JOURNAL   Mol Oncol 14 (5), 1028-1044 (2020)
   PUBMED   32157792
  REMARK    GeneRIF: Overexpression of GLT1D1 induces immunosuppression through
            glycosylation of PD-L1 and predicts poor prognosis in B-cell
            lymphoma.
REFERENCE   2  (residues 1 to 210)
  AUTHORS   Joo YB, Lim J, Tsao BP, Nath SK, Kim K and Bae SC.
  TITLE     Genetic variants in systemic lupus erythematosus susceptibility
            loci, XKR6 and GLT1D1 are associated with childhood-onset SLE in a
            Korean cohort
  JOURNAL   Sci Rep 8 (1), 9962 (2018)
   PUBMED   29967481
  REMARK    GeneRIF: GLT1D1 single nucleotide polymorphism rs7300146 is
            associated with childhood-onset systemic lupus erythematosus.
            Erratum:[Sci Rep. 2018 Jul 31;8(1):11713. PMID: 30065249]
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 210)
  AUTHORS   Foster MC, Yang Q, Hwang SJ, Hoffmann U and Fox CS.
  TITLE     Heritability and genome-wide association analysis of renal sinus
            fat accumulation in the Framingham Heart Study
  JOURNAL   BMC Med Genet 12, 148 (2011)
   PUBMED   22044751
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC069262.24.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.388437.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2151119
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..210
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     Protein         1..210
                     /product="glycosyltransferase 1 domain-containing protein
                     1 isoform 4"
                     /EC_number="2.4.-.-"
                     /note="glycosyltransferase 1 domain-containing protein 1"
                     /calculated_mol_wt=23661
     Region          <17..204
                     /region_name="Glyco4_Geo_Pelo"
                     /note="GPMC system family 4 glycosyltransferase; NF038229"
                     /db_xref="CDD:439530"
     CDS             1..210
                     /gene="GLT1D1"
                     /coded_by="NM_001366888.1:218..850"
                     /note="isoform 4 is encoded by transcript variant 5"
                     /db_xref="GeneID:144423"
                     /db_xref="HGNC:HGNC:26483"
ORIGIN      
        1 mkmptrrkkt qswaeflrkp einqsadnlh ifllicglrq vkdplylvda fsawhqeepn
       61 vhlvivgpev dpvftrevka kvkraagvrl igempqedlh avvkncfavv nssvsegmsa
      121 aileamdlev pvlarnipgn aavvkhevtg llfsnpqefv hlakrlvsdp alekeivvng
      181 reyvrmyhsw qverdtyqql irklegsted
//
LOCUS       NP_660093               2429 aa            linear   PRI 26-DEC-2022
DEFINITION  neuron navigator 2 isoform 2 [Homo sapiens].
ACCESSION   NP_660093
VERSION     NP_660093.2
DBSOURCE    REFSEQ: accession NM_145117.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2429)
  AUTHORS   Wang R, Li M, Wu W, Qiu Y, Hu W, Li Z, Wang Z, Yu Y, Liao J, Sun W,
            Mao J and Zhu YZ.
  TITLE     NAV2 positively modulates inflammatory response of fibroblast-like
            synoviocytes through activating Wnt/beta-catenin signaling pathway
            in rheumatoid arthritis
  JOURNAL   Clin Transl Med 11 (4), e376 (2021)
   PUBMED   33931978
  REMARK    GeneRIF: NAV2 positively modulates inflammatory response of
            fibroblast-like synoviocytes through activating Wnt/beta-catenin
            signaling pathway in rheumatoid arthritis.
REFERENCE   2  (residues 1 to 2429)
  AUTHORS   Koroknai V, Szasz I, Hernandez-Vargas H, Fernandez-Jimenez N,
            Cuenin C, Herceg Z, Vizkeleti L, Adany R, Ecsedi S and Balazs M.
  TITLE     DNA hypermethylation is associated with invasive phenotype of
            malignant melanoma
  JOURNAL   Exp Dermatol 29 (1), 39-50 (2020)
   PUBMED   31602702
  REMARK    GeneRIF: DNA hypermethylation is associated with invasive phenotype
            of malignant melanoma.
REFERENCE   3  (residues 1 to 2429)
  AUTHORS   Hu W, Li X, Cheng R, Ke J, Liu Y, Ma M, Cao Y and Liu D.
  TITLE     NAV2 facilitates invasion of cutaneous melanoma cells by targeting
            SNAI2 through the GSK-3beta/beta-catenin pathway
  JOURNAL   Arch Dermatol Res 311 (5), 399-410 (2019)
   PUBMED   30997569
  REMARK    GeneRIF: Study found that melanoma tissues showed an upregulated
            expression of NAV2 which correlated with poor prognosis of
            cutaneous melanoma. NAV2-mediated invasion of melanoma cells was
            driven by enhanced epithelial-mesenchymal transition, which was
            resulted from SNAI2 upregulation via the GSK-3beta/beta-catenin
            pathway.
REFERENCE   4  (residues 1 to 2429)
  AUTHORS   Wang KS, Liu Y, Xu C, Liu X and Luo X.
  TITLE     Family-based association analysis of NAV2 gene with the risk and
            age at onset of Alzheimer's disease
  JOURNAL   J Neuroimmunol 310, 60-65 (2017)
   PUBMED   28778446
  REMARK    GeneRIF: The present study is the first study providing evidence of
            several genetic variants within the NAV2 gene influencing the risk
            and age at onset of Alzheimer's disease.
REFERENCE   5  (residues 1 to 2429)
  AUTHORS   Davidson B, Hellesylt E, Holth A, Danielsen HE, Skeie-Jensen T and
            Katz B.
  TITLE     Neuron navigator-2 and cyclin D2 are new candidate prognostic
            markers in uterine sarcoma
  JOURNAL   Virchows Arch 471 (3), 355-362 (2017)
   PUBMED   28643014
  REMARK    GeneRIF: NAV2 and CCND2 are novel candidate prognostic markers in
            uterine leiomyosarcoma and uterine low-grade endometrial stromal
            sarcoma, respectively.
REFERENCE   6  (residues 1 to 2429)
  AUTHORS   Mitin NY, Ramocki MB, Zullo AJ, Der CJ, Konieczny SF and Taparowsky
            EJ.
  TITLE     Identification and characterization of rain, a novel
            Ras-interacting protein with a unique subcellular localization
  JOURNAL   J Biol Chem 279 (21), 22353-22361 (2004)
   PUBMED   15031288
REFERENCE   7  (residues 1 to 2429)
  AUTHORS   Ishiguro H, Shimokawa T, Tsunoda T, Tanaka T, Fujii Y, Nakamura Y
            and Furukawa Y.
  TITLE     Isolation of HELAD1, a novel human helicase gene up-regulated in
            colorectal carcinomas
  JOURNAL   Oncogene 21 (41), 6387-6394 (2002)
   PUBMED   12214280
  REMARK    GeneRIF: a novel gene, termed HELAD1 (helicase, APC down-regulated
            1) plays important role in colorectal carcinogenesis (HELAD1)
REFERENCE   8  (residues 1 to 2429)
  AUTHORS   Maes T, Barcelo A and Buesa C.
  TITLE     Neuron navigator: a human gene family with homology to unc-53, a
            cell guidance gene from Caenorhabditis elegans
  JOURNAL   Genomics 80 (1), 21-30 (2002)
   PUBMED   12079279
REFERENCE   9  (residues 1 to 2429)
  AUTHORS   Coy JF, Wiemann S, Bechmann I, Bachner D, Nitsch R, Kretz O,
            Christiansen H and Poustka A.
  TITLE     Pore membrane and/or filament interacting like protein 1 (POMFIL1)
            is predominantly expressed in the nervous system and encodes
            different protein isoforms
  JOURNAL   Gene 290 (1-2), 73-94 (2002)
   PUBMED   12062803
REFERENCE   10 (residues 1 to 2429)
  AUTHORS   Merrill RA, Plum LA, Kaiser ME and Clagett-Dame M.
  TITLE     A mammalian homolog of unc-53 is regulated by all-trans retinoic
            acid in neuroblastoma cells and embryos
  JOURNAL   Proc Natl Acad Sci U S A 99 (6), 3422-3427 (2002)
   PUBMED   11904404
  REMARK    GeneRIF: regulated by all-trans retinoic acid in neuroblastoma
            cells
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009549.6, AC090662.9,
            AC111163.6 and AC015684.11.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 30, 2003 this sequence version replaced NP_660093.1.
            
            Summary: This gene encodes a member of the neuron navigator gene
            family, which may play a role in cellular growth and migration.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (2) lacks several alternate exons
            in the coding region, compared to variant 5. This results in a
            shorter protein (isoform 2), which maintains the reading frame and
            contains the same N- and C-termimi, compared to isoform 5.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB063116.1, AF466143.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145313, SAMEA2147975
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000349880.9/ ENSP00000309577.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2429
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     Protein         1..2429
                     /product="neuron navigator 2 isoform 2"
                     /EC_number="3.6.4.12"
                     /note="retinoic acid inducible gene in neuroblastoma 1;
                     helicase, APC down-regulated 1; steerin-2; unc-53 homolog
                     2; pore membrane and/or filament-interacting-like protein
                     2"
                     /calculated_mol_wt=261278
     Region          77..190
                     /region_name="CH_NAV2"
                     /note="calponin homology (CH) domain found in neuron
                     navigator 2; cd21285"
                     /db_xref="CDD:409134"
     Site            order(87,91,145,147..148,151..152,154,163..171,176,
                     178..179,181..182,185..186,189)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409134"
     Region          <207..>394
                     /region_name="PRK07003"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:235906"
     Region          <286..715
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          946..>1298
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          <1631..>1900
                     /region_name="Mplasa_alph_rch"
                     /note="helix-rich Mycoplasma protein; TIGR04523"
                     /db_xref="CDD:275316"
     Region          1839..>1897
                     /region_name="Atg16_CCD"
                     /note="Coiled-coiled domain of autophagy-related 16
                     (Atg16) family proteins; cd22887"
                     /db_xref="CDD:439196"
     Region          2094..>2181
                     /region_name="AAA_22"
                     /note="AAA domain; pfam13401"
                     /db_xref="CDD:379165"
     CDS             1..2429
                     /gene="NAV2"
                     /gene_synonym="HELAD1; POMFIL2; RAINB1; STEERIN2; UNC53H2"
                     /coded_by="NM_145117.5:860..8149"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS7850.1"
                     /db_xref="GeneID:89797"
                     /db_xref="HGNC:HGNC:15997"
                     /db_xref="MIM:607026"
ORIGIN      
        1 mpailvaskm ksglpkpvhs aapilhvppa ragpqpcylk lgskvevskt typsqiplks
       61 qvlqglqepa geglplrksg svengfdtqi ytdwanhyla ksghkrlird lqqdvtdgvl
      121 laqiiqvvan ekiedingcp knrsqmieni daclnflaak giniqglsae eirngnlkai
      181 lglffslsry kqqqqqpqkq hlssplppav sqvagapsqc qagtpqqqvp vtpqapcqph
      241 qpaphqqska qaemqsrlpg ptarvsaags eaktrggstt annrrsqsfn nydkskpvts
      301 pppppsshek eplassassh pgmsdnapas lesgssstpt ncstssaipq pgaatkpwrs
      361 kslsvkhsat vsmlsvkppg peaprptpea mkpapnnqks mleklklfns kggskagegp
      421 gsrdtscerl etlpsfeese eleaasrmlt tvgpassspk ialkgiaqrt fsraltnkks
      481 slkgnekeke kqqrekdkek skdlakrasv terldlkeep kedpsgaavp empkksskia
      541 sfipkggkln sakkepmaps hsgipkpgmk smpgkspsap apskegersr sgklssglpq
      601 qkpqldgrhs ssssslasse gkgpggttln hsissqtvsg svgttqttgs ntvsvqlpqp
      661 qqqynhpnta tvapflyrsq tdtegnvtae ssstgvsvep shftktgqpa leeltgedpe
      721 arrlrtvkni adlrqnleet msslrgtqvt hstlettfdt nvttemsgrs ilsltgrptp
      781 lswrlgqssp rlqagdapsm gngypprana srfintesgr yvysaplrrq lasrgssvch
      841 vdvsdkagde mdlegismda pgymsdgdvl sknirtddit sgymtdgglg lytrrlnrlp
      901 dgmavvretl qrntslglgd adswddsssv ssgisdtidn lstddintss sissyantpa
      961 ssrknldvqt daekhsqver nslwsgddvk ksdggsdsgi kmepgskwrr npsdvsdesd
     1021 kstsgkknpv isqtgswrrg mtaqvgitmp rtkpsapaga lktpgtgktd dakvsekgrl
     1081 spkasqvkrs psdagrssgd eskkplpsss rtptanansf gfkkqsgsaa glamitasgv
     1141 tvtsrsatlg kipkssalvs rsagrkssmd gaqnqddgyl alssrtnlqy rslprpsksn
     1201 srngagnrss tssidsniss ksaglpvpkl repsktalgs slpglvnqtd kekgissdne
     1261 svascnsvkv npaaqpvssp aqtslqpgak ypdvasptlr rlfggkptkq vpiataenmk
     1321 nsvvisnpha tmtqqgnlds psgsgvlssg sssplysknv dlnqsplass pssahsapsn
     1381 sltwgtnass ssavskdglg fqsvsslhts cesidislss ggvpshnsst gliasskdds
     1441 ltpfvrtnsv kttlsespls spaaspkfcr stlprkqdsd phldrntlpk kglrytptsq
     1501 lrtqedakew lrshsagglq dtaanspfss gssvtspsgt rfnfsqlasp ttvtqmslsn
     1561 ptmlrthsls nadgqydpyt dsrfrnssms ldeksrtmsr sgsfrdgfee vhgsslslvs
     1621 stssvystpe ekcqseirkl rreldasqek vsalttqlta nahlvaafeq slgnmtirlq
     1681 sltmtaeqkd selnelrkti ellkkqnaaa qaaingvint pelnckgngt aqsadlrirr
     1741 qhssdsvssi nsatshssvg sniesdskkk krknwlrssf kqafgkkksp ksasshsdie
     1801 emtdsslpss pklphngstg stpllrnshs nslisecmds eaetvmqlrn elrdkemklt
     1861 dirlealssa hqldqlream nrmqseiekl kaendrlkse sqgsgcsrap sqvsisaspr
     1921 qsmglsqhsl nltestsldm llddtgecsa rkeggrhvki vvsfqeemkw kedsrphlfl
     1981 igcigvsgkt kwdvldgvvr rlfkeyiihv dpvsqlglns dsvlgysige ikrsntsetp
     2041 ellpcgylvg enttisvtvk glaensldsl vfeslipkpi lqryvsllie hrriilsgps
     2101 gtgktylanr lseyivlreg reltdgviat fnvdhksske lrqylsnlad qcnsennavd
     2161 mplviildnl hhvsslgeif ngllnckyhk cpyiigtmnq atsstpnlql hhnfrwvlca
     2221 nhtepvkgfl grflrrklme teisgrvrnm elvkiidwip kvwhhlnrfl eahsssdvti
     2281 gprlflscpi dvdgsrvwft dlwnysiipy lleavreglq lygrrapwed pakwvmdtyp
     2341 waaspqqhew ppllqlrped vgfdgysmpr egstskqmpp sdaegdplmn mlmrlqeaan
     2401 ysspqsydsd snsnshhddi ldsslestl
//
LOCUS       NP_001234916             282 aa            linear   PRI 27-DEC-2022
DEFINITION  synaptotagmin-13 isoform 2 [Homo sapiens].
ACCESSION   NP_001234916
VERSION     NP_001234916.1
DBSOURCE    REFSEQ: accession NM_001247987.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 282)
  AUTHORS   Ofori JK, Karagiannopoulos A, Barghouth M, Nagao M, Andersson ME,
            Salunkhe VA, Zhang E, Wendt A and Eliasson L.
  TITLE     The highly expressed calcium-insensitive synaptotagmin-11 and
            synaptotagmin-13 modulate insulin secretion
  JOURNAL   Acta Physiol (Oxf) 236 (1), e13857 (2022)
   PUBMED   35753051
  REMARK    GeneRIF: The highly expressed calcium-insensitive synaptotagmin-11
            and synaptotagmin-13 modulate insulin secretion.
REFERENCE   2  (residues 1 to 282)
  AUTHORS   Ichikawa T, Shibata M, Inaishi T, Soeda I, Kanda M, Hayashi M,
            Takano Y, Takeuchi D, Tsunoda N, Kodera Y and Kikumori T.
  TITLE     Synaptotagmin 13 Is Highly Expressed in Estrogen Receptor-Positive
            Breast Cancer
  JOURNAL   Curr Oncol 28 (5), 4080-4092 (2021)
   PUBMED   34677264
  REMARK    GeneRIF: Synaptotagmin 13 Is Highly Expressed in Estrogen
            Receptor-Positive Breast Cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 282)
  AUTHORS   Nizzardo M, Taiana M, Rizzo F, Aguila Benitez J, Nijssen J, Allodi
            I, Melzi V, Bresolin N, Comi GP, Hedlund E and Corti S.
  TITLE     Synaptotagmin 13 is neuroprotective across motor neuron diseases
  JOURNAL   Acta Neuropathol 139 (5), 837-853 (2020)
   PUBMED   32065260
  REMARK    GeneRIF: Synaptotagmin 13 is neuroprotective across motor neuron
            diseases.
REFERENCE   4  (residues 1 to 282)
  AUTHORS   Li Q, Zhang S, Hu M, Xu M and Jiang X.
  TITLE     Silencing of synaptotagmin 13 inhibits tumor growth through
            suppressing proliferation and promoting apoptosis of colorectal
            cancer cells
  JOURNAL   Int J Mol Med 45 (1), 234-244 (2020)
   PUBMED   31939613
  REMARK    GeneRIF: Silencing of synaptotagmin 13 inhibits tumor growth
            through suppressing proliferation and promoting apoptosis of
            colorectal cancer cells.
REFERENCE   5  (residues 1 to 282)
  AUTHORS   Nakanishi K, Kanda M, Umeda S, Tanaka C, Kobayashi D, Hayashi M,
            Yamada S and Kodera Y.
  TITLE     The levels of SYT13 and CEA mRNAs in peritoneal lavages predict the
            peritoneal recurrence of gastric cancer
  JOURNAL   Gastric Cancer 22 (6), 1143-1152 (2019)
   PUBMED   31055693
  REMARK    GeneRIF: SYT13 levels were significantly associated with shorter
            peritoneal recurrence-free survival (PRFS) and overall survival in
            patients with gastric cancer; positive levels of SYT13 and CEA mRNA
            demonstrated the highest hazards ratio for peritoneal recurrence
REFERENCE   6  (residues 1 to 282)
  AUTHORS   Kanda M, Shimizu D, Tanaka H, Tanaka C, Kobayashi D, Hayashi M,
            Takami H, Niwa Y, Yamada S, Fujii T, Sugimoto H and Kodera Y.
  TITLE     Synaptotagmin XIII expression and peritoneal metastasis in gastric
            cancer
  JOURNAL   Br J Surg 105 (10), 1349-1358 (2018)
   PUBMED   29741294
  REMARK    GeneRIF: SYT13 expression in gastric cancer is associated with
            peritoneal metastases.
REFERENCE   7  (residues 1 to 282)
  AUTHORS   Jahn JE, Best DH and Coleman WB.
  TITLE     Exogenous expression of synaptotagmin XIII suppresses the
            neoplastic phenotype of a rat liver tumor cell line through
            molecular pathways related to mesenchymal to epithelial transition
  JOURNAL   Exp Mol Pathol 89 (3), 209-216 (2010)
   PUBMED   20840848
  REMARK    GeneRIF: These studies combine to suggest that SYT13 is a liver
            tumor suppressor gene and that its function may be mediated through
            pathways implicated in mesenchymal to epithelial transition
REFERENCE   8  (residues 1 to 282)
  AUTHORS   Jahn JE and Coleman WB.
  TITLE     Re-expression of tumorigenicity after attenuation of human
            synaptotagmin 13 in a suppressed microcell hybrid cell line
  JOURNAL   Int J Oncol 32 (2), 441-449 (2008)
   PUBMED   18202767
  REMARK    GeneRIF: human SYT13 functions as a liver tumor suppressor gene
            that complements a molecular defect in rat liver tumor cells
            resulting in a normalized cellular phenotype in vitro and
            suppression of tumorigenicity in vivo
REFERENCE   9  (residues 1 to 282)
  AUTHORS   Craxton M.
  TITLE     Genomic analysis of synaptotagmin genes
  JOURNAL   Genomics 77 (1-2), 43-49 (2001)
   PUBMED   11543631
REFERENCE   10 (residues 1 to 282)
  AUTHORS   Fukuda M and Mikoshiba K.
  TITLE     Characterization of KIAA1427 protein as an atypical synaptotagmin
            (Syt XIII)
  JOURNAL   Biochem J 354 (Pt 2), 249-257 (2001)
   PUBMED   11171101
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC103736.5, AC103681.4,
            AK308841.1 and W45345.1.
            
            Summary: This gene encodes a member of the large synaptotagmin
            protein family. Family members have an extracellular N-terminal
            transmembrane domain and a cytoplasmic C terminus with two tandem
            C2 domains (C2A and C2B). Synaptotogmin family members can form
            homo- and heteromeric complexes with each other. They also have
            different biochemical properties and developmental profiles, and
            patterns of tissue distribution. Synaptotagmins function as
            membrane traffickers in multicellular organisms. Two alternatively
            spliced transcript variants that encode different protein isoforms
            have been described for this gene. [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (2) contains additional exons in
            the 5' end, which result in the use of a downstream start codon,
            compared to variant 1. The resulting protein (isoform 2) is shorter
            when it is compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK308841.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..282
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..282
                     /product="synaptotagmin-13 isoform 2"
                     /note="sytXIII; synaptotagmin XIII"
                     /calculated_mol_wt=31188
     Region          16..133
                     /region_name="C2A_Synaptotagmin-13"
                     /note="C2 domain; cd08677"
                     /db_xref="CDD:176059"
     Region          144..281
                     /region_name="C2B_Synaptotagmin-13"
                     /note="C2 domain second repeat present in Synaptotagmin
                     13; cd08407"
                     /db_xref="CDD:176052"
     CDS             1..282
                     /gene="SYT13"
                     /coded_by="NM_001247987.2:785..1633"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:57586"
                     /db_xref="HGNC:HGNC:14962"
                     /db_xref="MIM:607716"
ORIGIN      
        1 metwnpekaa swnqapklhy cldydcqkae lfvtrleavt snhdggcdcy vqgsvanrtg
       61 sveaqtalkk rqlhttweeg lvlplaeeel ptatltltlr tcdrfsrhsv agelrlgldg
      121 tsvplgaaqw gelktsakep sagagevlls isylpaanrl lvvlikaknl hsnqskellg
      181 kdvsvkvtlk hqarklkkkq tkrakhkinp vwnemimfel pddllqassv elevlgqdds
      241 gqscalghcs lglhtsgser shweemlknp rrqiamwhql hl
//
LOCUS       NP_001359119             160 aa            linear   PRI 27-DEC-2022
DEFINITION  melanoregulin isoform 3 [Homo sapiens].
ACCESSION   NP_001359119
VERSION     NP_001359119.1
DBSOURCE    REFSEQ: accession NM_001372190.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 160)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 160)
  AUTHORS   Meng X, Dong Y, Yu X, Wang D, Wang S, Chen S and Pang S.
  TITLE     MREG suppresses thyroid cancer cell invasion and proliferation by
            inhibiting Akt-mTOR signaling
  JOURNAL   Biochem Biophys Res Commun 491 (1), 72-78 (2017)
   PUBMED   28698135
  REMARK    GeneRIF: Taken together, MREG regulates thyroid cancer cell
            invasion and proliferation through PI3K/Akt-mTOR signaling pathway.
            MREG may serve as a promising therapeutic strategy for thyroid
            cancer.
REFERENCE   3  (residues 1 to 160)
  AUTHORS   Frost LS, Lopes VS, Bragin A, Reyes-Reveles J, Brancato J, Cohen A,
            Mitchell CH, Williams DS and Boesze-Battaglia K.
  TITLE     The Contribution of Melanoregulin to Microtubule-Associated Protein
            1 Light Chain 3 (LC3) Associated Phagocytosis in Retinal Pigment
            Epithelium
  JOURNAL   Mol Neurobiol 52 (3), 1135-1151 (2015)
   PUBMED   25301234
  REMARK    GeneRIF: MREG-dependent processing links both autophagic and
            phagocytic processes in LC3-associated phagocytosis. MREG
            participates in coordinating the association of phagosomes with LC3
            for content degradation with the MREG loss leading to phagosome
            accumulation.
REFERENCE   4  (residues 1 to 160)
  AUTHORS   Evans DM, Zhu G, Dy V, Heath AC, Madden PA, Kemp JP, McMahon G, St
            Pourcain B, Timpson NJ, Golding J, Lawlor DA, Steer C, Montgomery
            GW, Martin NG, Smith GD and Whitfield JB.
  TITLE     Genome-wide association study identifies loci affecting blood
            copper, selenium and zinc
  JOURNAL   Hum Mol Genet 22 (19), 3998-4006 (2013)
   PUBMED   23720494
REFERENCE   5  (residues 1 to 160)
  AUTHORS   Ohbayashi N, Maruta Y, Ishida M and Fukuda M.
  TITLE     Melanoregulin regulates retrograde melanosome transport through
            interaction with the RILP-p150Glued complex in melanocytes
  JOURNAL   J Cell Sci 125 (Pt 6), 1508-1518 (2012)
   PUBMED   22275436
REFERENCE   6  (residues 1 to 160)
  AUTHORS   Hersh CP, Pillai SG, Zhu G, Lomas DA, Bakke P, Gulsvik A, DeMeo DL,
            Klanderman BJ, Lazarus R, Litonjua AA, Sparrow D, Reilly JJ, Agusti
            A, Calverley PM, Donner CF, Levy RD, Make BJ, Pare PD, Rennard SI,
            Vestbo J, Wouters EF, Scholand MB, Coon H, Hoidal J and Silverman
            EK.
  TITLE     Multistudy fine mapping of chromosome 2q identifies XRCC5 as a
            chronic obstructive pulmonary disease susceptibility gene
  JOURNAL   Am J Respir Crit Care Med 182 (5), 605-613 (2010)
   PUBMED   20463177
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 160)
  AUTHORS   Damek-Poprawa M, Diemer T, Lopes VS, Lillo C, Harper DC, Marks MS,
            Wu Y, Sparrow JR, Rachel RA, Williams DS and Boesze-Battaglia K.
  TITLE     Melanoregulin (MREG) modulates lysosome function in pigment
            epithelial cells
  JOURNAL   J Biol Chem 284 (16), 10877-10889 (2009)
   PUBMED   19240024
REFERENCE   8  (residues 1 to 160)
  AUTHORS   O'Sullivan TN, Wu XS, Rachel RA, Huang JD, Swing DA, Matesic LE,
            Hammer JA 3rd, Copeland NG and Jenkins NA.
  TITLE     dsu functions in a MYO5A-independent pathway to suppress the coat
            color of dilute mice
  JOURNAL   Proc Natl Acad Sci U S A 101 (48), 16831-16836 (2004)
   PUBMED   15550542
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010686.9 and AC093382.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA208539.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..160
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     Protein         1..160
                     /product="melanoregulin isoform 3"
                     /note="whn-dependent transcript 2; dilute suppressor
                     protein homolog"
                     /calculated_mol_wt=18660
     Region          2..137
                     /region_name="MREG"
                     /note="Melanoregulin; pfam15812"
                     /db_xref="CDD:434956"
     CDS             1..160
                     /gene="MREG"
                     /gene_synonym="DSU; WDT2"
                     /coded_by="NM_001372190.1:190..672"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="GeneID:55686"
                     /db_xref="HGNC:HGNC:25478"
                     /db_xref="MIM:609207"
ORIGIN      
        1 mphdvshtea dddrtlynli virnqqakds eewqklnydi htlrqvrrev rnrwkciled
       61 lgfqkeadsl lsvtklstis dskntrkare mllklaeetn ifptswelse rylfvvdrli
      121 aldaaeeffk larrtypkkp gvpcladgqk elhylpfpsp
//
LOCUS       NP_001339321             514 aa            linear   PRI 27-DEC-2022
DEFINITION  serine/threonine-protein kinase 33 isoform a [Homo sapiens].
ACCESSION   NP_001339321 XP_016873639
VERSION     NP_001339321.1
DBSOURCE    REFSEQ: accession NM_001352392.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 514)
  AUTHORS   Ma H, Zhang B, Khan A, Zhao D, Ma A, Zhou J, Khan I, Khan K, Zhang
            H, Zhang Y, Jiang X, Dil S, Zeb A, Rahim F and Shi Q.
  TITLE     Novel frameshift mutation in STK33 is associated with
            asthenozoospermia and multiple morphological abnormalities of the
            flagella
  JOURNAL   Hum Mol Genet 30 (21), 1977-1984 (2021)
   PUBMED   34155512
  REMARK    GeneRIF: Novel frameshift mutation in STK33 is associated with
            asthenozoospermia and multiple morphological abnormalities of the
            flagella.
REFERENCE   2  (residues 1 to 514)
  AUTHORS   Zhang S, Wu H, Wang K and Liu M.
  TITLE     STK33/ERK2 signal pathway contribute the tumorigenesis of
            colorectal cancer HCT15 cells
  JOURNAL   Biosci Rep 39 (3) (2019)
   PUBMED   30760631
  REMARK    GeneRIF: Data show that serine/threonine kinase 33 (STK33) can bind
            with extracellular signal-regulated kinase 2 (ERK2) and take part
            in the regulation of ERKs signaling pathway.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 514)
  AUTHORS   Kong F, Sun T, Kong X, Xie D, Li Z and Xie K.
  TITLE     Kruppel-like Factor 4 Suppresses Serine/Threonine Kinase 33
            Activation and Metastasis of Gastric Cancer through Reversing
            Epithelial-Mesenchymal Transition
  JOURNAL   Clin Cancer Res 24 (10), 2440-2451 (2018)
   PUBMED   29367428
  REMARK    GeneRIF: STK33 has pro-tumor function and is a critical downstream
            mediator of KLF4 in gastric cancer. STK33 may serve as a potential
            prognostic marker and therapeutic target for gastric cancer.
REFERENCE   4  (residues 1 to 514)
  AUTHORS   Kong F, Kong X, Du Y, Chen Y, Deng X, Zhu J, Du J, Li L, Jia Z, Xie
            D, Li Z and Xie K.
  TITLE     STK33 Promotes Growth and Progression of Pancreatic Cancer as a
            Critical Downstream Mediator of HIF1alpha
  JOURNAL   Cancer Res 77 (24), 6851-6862 (2017)
   PUBMED   29038348
  REMARK    GeneRIF: Dysregulated HIF1alpha/STK33 signaling promotes pancreatic
            ductal adenocarcinoma (PDAC) growth and progression, this suggests
            that STK33 is a candidate therapeutic target to improve PDAC
            treatment.
REFERENCE   5  (residues 1 to 514)
  AUTHORS   Sun,E.L., Liu,C.X., Ma,Z.X., Mou,X.Y., Mu,X.A., Ni,Y.H., Li,X.L.,
            Zhang,D. and Ju,Y.R.
  TITLE     Knockdown of human serine/threonine kinase 33 suppresses human
            small cell lung carcinoma by blocking RPS6/BAD signaling
            transduction
  JOURNAL   Neoplasma 64 (6), 869-879 (2017)
   PUBMED   28895411
  REMARK    GeneRIF: inhibition of STK33 in small cell lung carcinoma cells
            suppressed the cell proliferation and invasion while induced cell
            apoptosis
REFERENCE   6  (residues 1 to 514)
  AUTHORS   Melen E, Himes BE, Brehm JM, Boutaoui N, Klanderman BJ, Sylvia JS
            and Lasky-Su J.
  TITLE     Analyses of shared genetic factors between asthma and obesity in
            children
  JOURNAL   J Allergy Clin Immunol 126 (3), 631-7 (2010)
   PUBMED   20816195
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 514)
  AUTHORS   Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM,
            Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon
            HN, McCarroll SA, Papadakis K, Qi L, Randall JC, Roccasecca RM,
            Sanna S, Scheet P, Weedon MN, Wheeler E, Zhao JH, Jacobs LC,
            Prokopenko I, Soranzo N, Tanaka T, Timpson NJ, Almgren P, Bennett
            A, Bergman RN, Bingham SA, Bonnycastle LL, Brown M, Burtt NP,
            Chines P, Coin L, Collins FS, Connell JM, Cooper C, Smith GD,
            Dennison EM, Deodhar P, Elliott P, Erdos MR, Estrada K, Evans DM,
            Gianniny L, Gieger C, Gillson CJ, Guiducci C, Hackett R, Hadley D,
            Hall AS, Havulinna AS, Hebebrand J, Hofman A, Isomaa B, Jacobs KB,
            Johnson T, Jousilahti P, Jovanovic Z, Khaw KT, Kraft P, Kuokkanen
            M, Kuusisto J, Laitinen J, Lakatta EG, Luan J, Luben RN, Mangino M,
            McArdle WL, Meitinger T, Mulas A, Munroe PB, Narisu N, Ness AR,
            Northstone K, O'Rahilly S, Purmann C, Rees MG, Ridderstrale M, Ring
            SM, Rivadeneira F, Ruokonen A, Sandhu MS, Saramies J, Scott LJ,
            Scuteri A, Silander K, Sims MA, Song K, Stephens J, Stevens S,
            Stringham HM, Tung YC, Valle TT, Van Duijn CM, Vimaleswaran KS,
            Vollenweider P, Waeber G, Wallace C, Watanabe RM, Waterworth DM,
            Watkins N, Witteman JC, Zeggini E, Zhai G, Zillikens MC, Altshuler
            D, Caulfield MJ, Chanock SJ, Farooqi IS, Ferrucci L, Guralnik JM,
            Hattersley AT, Hu FB, Jarvelin MR, Laakso M, Mooser V, Ong KK,
            Ouwehand WH, Salomaa V, Samani NJ, Spector TD, Tuomi T, Tuomilehto
            J, Uda M, Uitterlinden AG, Wareham NJ, Deloukas P, Frayling TM,
            Groop LC, Hayes RB, Hunter DJ, Mohlke KL, Peltonen L, Schlessinger
            D, Strachan DP, Wichmann HE, McCarthy MI, Boehnke M, Barroso I,
            Abecasis GR and Hirschhorn JN.
  CONSRTM   Wellcome Trust Case Control Consortium; Genetic Investigation of
            ANthropometric Traits Consortium
  TITLE     Six new loci associated with body mass index highlight a neuronal
            influence on body weight regulation
  JOURNAL   Nat Genet 41 (1), 25-34 (2009)
   PUBMED   19079261
REFERENCE   8  (residues 1 to 514)
  AUTHORS   Mujica AO, Brauksiepe B, Saaler-Reinhardt S, Reuss S and Schmidt
            ER.
  TITLE     Differential expression pattern of the novel serine/threonine
            kinase, STK33, in mice and men
  JOURNAL   FEBS J 272 (19), 4884-4898 (2005)
   PUBMED   16176263
  REMARK    GeneRIF: STK33/Stk33 expression pattern resembles those of some
            related members of the calcium/calmodulin dependent kinase group
REFERENCE   9  (residues 1 to 514)
  AUTHORS   Mujica AO, Hankeln T and Schmidt ER.
  TITLE     A novel serine/threonine kinase gene, STK33, on human chromosome
            11p15.3
  JOURNAL   Gene 280 (1-2), 175-181 (2001)
   PUBMED   11738831
REFERENCE   10 (residues 1 to 514)
  AUTHORS   Amid C, Bahr A, Mujica A, Sampson N, Bikar SE, Winterpacht A, Zabel
            B, Hankeln T and Schmidt ER.
  TITLE     Comparative genomic sequencing reveals a strikingly similar
            architecture of a conserved syntenic region on human chromosome
            11p15.3 (including gene ST5) and mouse chromosome 7
  JOURNAL   Cytogenet Cell Genet 93 (3-4), 284-290 (2001)
   PUBMED   11528127
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104360.8 and AC105357.7.
            On Jun 13, 2017 this sequence version replaced XP_016873639.1.
            
            Transcript Variant: This variant (10), as well as variants 1, 4-9,
            and 11, encodes isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.934282.1,
                                           SRR18074967.3297620.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..514
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..514
                     /product="serine/threonine-protein kinase 33 isoform a"
                     /EC_number="2.7.11.1"
                     /note="serine/threonine-protein kinase 33"
                     /calculated_mol_wt=57700
     Region          65..91
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYT3.1)"
     Region          114..381
                     /region_name="STKc_STK33"
                     /note="Catalytic domain of Serine/Threonine Kinase 33;
                     cd14097"
                     /db_xref="CDD:270999"
     Site            order(122..126,130,143,145,176,192..195,199,201,237..238,
                     240,242..243,245,264..265,268,284..288,290)
                     /site_type="active"
                     /db_xref="CDD:270999"
     Site            order(122..125,130,143,145,176,192..195,199,242..243,245,
                     264..265)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270999"
     Site            order(126,199,201,237..238,240,242,268,284..288,290)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270999"
     Site            order(264..278,280..288)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270999"
     Region          402..468
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYT3.1)"
     Site            407
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q924X7; propagated from
                     UniProtKB/Swiss-Prot (Q9BYT3.1)"
     Region          485..514
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYT3.1)"
     CDS             1..514
                     /gene="STK33"
                     /coded_by="NM_001352392.2:407..1951"
                     /note="isoform a is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS7789.1"
                     /db_xref="GeneID:65975"
                     /db_xref="HGNC:HGNC:14568"
                     /db_xref="MIM:607670"
ORIGIN      
        1 madsgldkks tkcpdcssas qkdvlcvcss ktrvppvlvv emsqtssigs aeslislerk
       61 kekninrdit srkdlpsrts nverkasqqq wgrgnftegk vphirienga aieeiytfgr
      121 ilgkgsfgiv ieatdketet kwaikkvnke kagssavkll erevnilksv khehiihleq
      181 vfetpkkmyl vmelcedgel keildrkghf senetrwiiq slasaiaylh nndivhrdlk
      241 lenimvkssl iddnneinln ikvtdfglav kkqsrseaml qatcgtpiym apevisahdy
      301 sqqcdiwsig vvmymllrge ppflasseek lfelirkgel hfenavwnsi sdcaksvlkq
      361 lmkvdpahri takelldnqw ltgnklssvr ptnvlemmke wknnpesvee ntteeknkps
      421 teeklksyqp wgnvpdanyt sdeeeekqst ayekqfpats kdnfdmcsss ftsskllpae
      481 ikgemektpv tpsqgtatky paksgalsrt kkkl
//
LOCUS       NP_001362803             931 aa            linear   PRI 27-DEC-2022
DEFINITION  rap guanine nucleotide exchange factor 4 isoform p [Homo sapiens].
ACCESSION   NP_001362803
VERSION     NP_001362803.1
DBSOURCE    REFSEQ: accession NM_001375874.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 931)
  AUTHORS   Krishnan A, Bhasker AI, Singh MK, Rodriguez CI, Perez EC, Altameemi
            S, Lares M, Khan H, Ndiaye M, Ahmad N, Schieke SM and Setaluri V.
  TITLE     EPAC Regulates Melanoma Growth by Stimulating mTORC1 Signaling and
            Loss of EPAC Signaling Dependence Correlates with Melanoma
            Progression
  JOURNAL   Mol Cancer Res 20 (10), 1548-1560 (2022)
   PUBMED   35834616
  REMARK    GeneRIF: EPAC Regulates Melanoma Growth by Stimulating mTORC1
            Signaling and Loss of EPAC Signaling Dependence Correlates with
            Melanoma Progression.
REFERENCE   2  (residues 1 to 931)
  AUTHORS   Ni Z and Cheng X.
  TITLE     Origin and Isoform Specific Functions of Exchange Proteins Directly
            Activated by cAMP: A Phylogenetic Analysis
  JOURNAL   Cells 10 (10), 2750 (2021)
   PUBMED   34685730
  REMARK    GeneRIF: Origin and Isoform Specific Functions of Exchange Proteins
            Directly Activated by cAMP: A Phylogenetic Analysis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 931)
  AUTHORS   Pang W, Yao W, Dai X, Zhang A, Hou L, Wang L, Wang Y, Huang X, Meng
            X and Li L.
  TITLE     Pancreatic cancer-derived exosomal microRNA-19a induces beta-cell
            dysfunction by targeting ADCY1 and EPAC2
  JOURNAL   Int J Biol Sci 17 (13), 3622-3633 (2021)
   PUBMED   34512170
  REMARK    GeneRIF: Pancreatic cancer-derived exosomal microRNA-19a induces
            beta-cell dysfunction by targeting ADCY1 and EPAC2.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 931)
  AUTHORS   Choi EJ, Wu W, Cong X, Zhang K, Luo J, Ye S, Wang P, Suresh A,
            Ullah UM, Zhou J and Bao X.
  TITLE     Broad Impact of Exchange Protein Directly Activated by cAMP 2
            (EPAC2) on Respiratory Viral Infections
  JOURNAL   Viruses 13 (6), 1179 (2021)
   PUBMED   34205489
  REMARK    GeneRIF: Broad Impact of Exchange Protein Directly Activated by
            cAMP 2 (EPAC2) on Respiratory Viral Infections.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 931)
  AUTHORS   Lee K.
  TITLE     Epac: new emerging cAMP-binding protein
  JOURNAL   BMB Rep 54 (3), 149-156 (2021)
   PUBMED   33298248
  REMARK    GeneRIF: Epac: new emerging cAMP-binding protein.
            Review article
REFERENCE   6  (residues 1 to 931)
  AUTHORS   Kashima Y, Miki T, Shibasaki T, Ozaki N, Miyazaki M, Yano H and
            Seino S.
  TITLE     Critical role of cAMP-GEFII--Rim2 complex in incretin-potentiated
            insulin secretion
  JOURNAL   J Biol Chem 276 (49), 46046-46053 (2001)
   PUBMED   11598134
REFERENCE   7  (residues 1 to 931)
  AUTHORS   Coppola T, Magnin-Luthi S, Perret-Menoud V, Gattesco S, Schiavo G
            and Regazzi R.
  TITLE     Direct interaction of the Rab3 effector RIM with Ca2+ channels,
            SNAP-25, and synaptotagmin
  JOURNAL   J Biol Chem 276 (35), 32756-32762 (2001)
   PUBMED   11438518
REFERENCE   8  (residues 1 to 931)
  AUTHORS   de Rooij J, Rehmann H, van Triest M, Cool RH, Wittinghofer A and
            Bos JL.
  TITLE     Mechanism of regulation of the Epac family of cAMP-dependent
            RapGEFs
  JOURNAL   J Biol Chem 275 (27), 20829-20836 (2000)
   PUBMED   10777494
REFERENCE   9  (residues 1 to 931)
  AUTHORS   Kawasaki H, Springett GM, Mochizuki N, Toki S, Nakaya M, Matsuda M,
            Housman DE and Graybiel AM.
  TITLE     A family of cAMP-binding proteins that directly activate Rap1
  JOURNAL   Science 282 (5397), 2275-2279 (1998)
   PUBMED   9856955
REFERENCE   10 (residues 1 to 931)
  AUTHORS   Kawasaki H, Springett GM, Toki S, Canales JJ, Harlan P, Blumenstiel
            JP, Chen EJ, Bany IA, Mochizuki N, Ashbacher A, Matsuda M, Housman
            DE and Graybiel AM.
  TITLE     A Rap guanine nucleotide exchange factor enriched highly in the
            basal ganglia
  JOURNAL   Proc Natl Acad Sci U S A 95 (22), 13278-13283 (1998)
   PUBMED   9789079
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1999 Jan 5;96(1):318]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018712.5, AC009484.3, AC104086.6 and AC019046.4.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.47890.1,
                                           SRR1803614.116830.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..931
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     Protein         1..931
                     /product="rap guanine nucleotide exchange factor 4 isoform
                     p"
                     /note="exchange protein directly activated by cAMP 2;
                     cAMP-regulated guanine nucleotide exchange factor II; RAP
                     guanine-nucleotide-exchange factor (GEF) 4; putative
                     protein product of Nbla00496; exchange factor directly
                     activated by cAMP 2; Rap guanine nucleotide exchange
                     factor (GEF) 4"
                     /calculated_mol_wt=105892
     Region          43..158
                     /region_name="CAP_ED"
                     /note="effector domain of the CAP family of transcription
                     factors; members include CAP (or cAMP receptor protein
                     (CRP)), which binds cAMP, FNR (fumarate and nitrate
                     reduction), which uses an iron-sulfur cluster to sense
                     oxygen) and CooA, a heme containing CO...; cd00038"
                     /db_xref="CDD:237999"
     Site            order(114..115,123..125)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:237999"
     Site            order(145..147,151..153)
                     /site_type="other"
                     /note="flexible hinge region"
                     /db_xref="CDD:237999"
     Region          188..316
                     /region_name="DEP_Epac"
                     /note="DEP (Dishevelled, Egl-10, and Pleckstrin) domain
                     found in Epac-like proteins. Epac (exchange proteins
                     directly activated by cAMP) proteins are GEFs
                     (guanine-nucleotide-exchange factors) for the small
                     GTPases, Rap1 and Rap2. They are directly regulated by...;
                     cd04437"
                     /db_xref="CDD:239884"
     Region          338..449
                     /region_name="CAP_ED"
                     /note="effector domain of the CAP family of transcription
                     factors; members include CAP (or cAMP receptor protein
                     (CRP)), which binds cAMP, FNR (fumarate and nitrate
                     reduction), which uses an iron-sulfur cluster to sense
                     oxygen) and CooA, a heme containing CO...; cd00038"
                     /db_xref="CDD:237999"
     Site            order(404..405,414..416)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:237999"
     Site            order(437..439,443..445)
                     /site_type="other"
                     /note="flexible hinge region"
                     /db_xref="CDD:237999"
     Region          481..587
                     /region_name="RasGEF_N"
                     /note="RasGEF N-terminal motif; pfam00618"
                     /db_xref="CDD:425781"
     Site            order(497,553,557..558,561,564..565,600..601,604,611)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:100121"
     Region          750..>911
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases; smart00147"
                     /db_xref="CDD:214539"
     CDS             1..931
                     /gene="RAPGEF4"
                     /gene_synonym="CAMP-GEFII; CGEF2; EPAC; EPAC 2; EPAC2;
                     Nbla00496"
                     /coded_by="NM_001375874.1:140..2935"
                     /note="isoform p is encoded by transcript variant 16"
                     /db_xref="GeneID:11069"
                     /db_xref="HGNC:HGNC:16626"
                     /db_xref="MIM:606058"
ORIGIN      
        1 mvaahaahss ssaewiacld krplerssed vdiiftrlke vkafekfhpn llhqiclcgy
       61 yenlekgitl frqgdigtnw yavlagsldv kvsetsshqd avtictlgig tafgesildn
      121 tprhativtr essellrieq kdfkalweky rqymagllap pygvmetgsn ndripdkenv
      181 psekilragk ilrnailsra phmirdrkyh lktyrqccvg telvdwmmqq tpcvhsrtqa
      241 vgmwqvlled gvlnhvdqeh hfqdkylfyr flddehedap lpteeekkec deelqdtmll
      301 lsqmgpdahm rmilrkppgq rtvddleiiy eellhikals hlsttvkrel agvlifesha
      361 kggtvlfnqg eegtswyiil kgsvnvviyg kgvvctlheg ddfgklalvn dapraasivl
      421 rednchflrv dkedfnrilr dveantvrlk ehdqdvlvle kvpagnrasn qgnsqpqqky
      481 tvmsgtpeki lehfletirl eatlneatds vlndfimmhc vfmpntqlcp alvahyhaqp
      541 sqgteqekmd yalnnkrrvi rlvlqwaamy gdllqeddvs mafleefyvs vsddarmiaa
      601 lkeqlpelek ivkqisedak apqkkhkvll qqfntgdera qkrqpirgsd evlfkvycmd
      661 htyttirvpv atsvkevisa vadklgsgeg liivkmssgg ekvvlkpndv svfttlting
      721 rlfacpreqf dsltplpeqe gptvgtvgtf elmsskdlay qmtiydwelf ncvheleliy
      781 htfgrhnfkk ttanldlflr rfneiqfwvv teiclcsqls krvqllkkfi kiaahckeyk
      841 nlnsffaivm glsnvavsrl altweklpsk fkkfyaefes lmdpsrnhra yrltvaklep
      901 plipfmplli kahdckygqn seilqeptlq s
//
LOCUS       NP_001369685             618 aa            linear   PRI 29-DEC-2022
DEFINITION  enhancer of polycomb homolog 1 isoform h [Homo sapiens].
ACCESSION   NP_001369685
VERSION     NP_001369685.1
DBSOURCE    REFSEQ: accession NM_001382756.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 618)
  AUTHORS   Dai Y, Chen W, Huang J, Zheng L, Lin Q, Cui T and Huang C.
  TITLE     Multiomics Integrative Analysis Identifying EPC1 as a Prognostic
            Biomarker in Head and Neck Squamous Cell Carcinoma
  JOURNAL   Biomed Res Int 2022, 1074412 (2022)
   PUBMED   36158885
  REMARK    GeneRIF: Multiomics Integrative Analysis Identifying EPC1 as a
            Prognostic Biomarker in Head and Neck Squamous Cell Carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 618)
  AUTHORS   Zhang H, Devoucoux M, Song X, Li L, Ayaz G, Cheng H, Tempel W, Dong
            C, Loppnau P, Cote J and Min J.
  TITLE     Structural Basis for EPC1-Mediated Recruitment of MBTD1 into the
            NuA4/TIP60 Acetyltransferase Complex
  JOURNAL   Cell Rep 30 (12), 3996-4002 (2020)
   PUBMED   32209463
  REMARK    GeneRIF: Structural Basis for EPC1-Mediated Recruitment of MBTD1
            into the NuA4/TIP60 Acetyltransferase Complex.
REFERENCE   3  (residues 1 to 618)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 618)
  AUTHORS   Dong Y, Isono KI, Ohbo K, Endo TA, Ohara O, Maekawa M, Toyama Y,
            Ito C, Toshimori K, Helin K, Ogonuki N, Inoue K, Ogura A, Yamagata
            K, Kitabayashi I and Koseki H.
  TITLE     EPC1/TIP60-Mediated Histone Acetylation Facilitates Spermiogenesis
            in Mice
  JOURNAL   Mol Cell Biol 37 (19), e00082-17 (2017)
   PUBMED   28694333
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 618)
  AUTHORS   Jacquet K, Fradet-Turcotte A, Avvakumov N, Lambert JP, Roques C,
            Pandita RK, Paquet E, Herst P, Gingras AC, Pandita TK, Legube G,
            Doyon Y, Durocher D and Cote J.
  TITLE     The TIP60 Complex Regulates Bivalent Chromatin Recognition by 53BP1
            through Direct H4K20me Binding and H2AK15 Acetylation
  JOURNAL   Mol Cell 62 (3), 409-421 (2016)
   PUBMED   27153538
REFERENCE   6  (residues 1 to 618)
  AUTHORS   Attwooll C, Oddi S, Cartwright P, Prosperini E, Agger K,
            Steensgaard P, Wagener C, Sardet C, Moroni MC and Helin K.
  TITLE     A novel repressive E2F6 complex containing the polycomb group
            protein, EPC1, that interacts with EZH2 in a proliferation-specific
            manner
  JOURNAL   J Biol Chem 280 (2), 1199-1208 (2005)
   PUBMED   15536069
REFERENCE   7  (residues 1 to 618)
  AUTHORS   Doyon Y and Cote J.
  TITLE     The highly conserved and multifunctional NuA4 HAT complex
  JOURNAL   Curr Opin Genet Dev 14 (2), 147-154 (2004)
   PUBMED   15196461
  REMARK    Review article
REFERENCE   8  (residues 1 to 618)
  AUTHORS   Doyon Y, Selleck W, Lane WS, Tan S and Cote J.
  TITLE     Structural and functional conservation of the NuA4 histone
            acetyltransferase complex from yeast to humans
  JOURNAL   Mol Cell Biol 24 (5), 1884-1896 (2004)
   PUBMED   14966270
REFERENCE   9  (residues 1 to 618)
  AUTHORS   Shimono Y, Murakami H, Hasegawa Y and Takahashi M.
  TITLE     RET finger protein is a transcriptional repressor and interacts
            with enhancer of polycomb that has dual transcriptional functions
  JOURNAL   J Biol Chem 275 (50), 39411-39419 (2000)
   PUBMED   10976108
REFERENCE   10 (residues 1 to 618)
  AUTHORS   Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and
            Morton CC.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL391839.9 and AL158834.19.
            
            Summary: This gene encodes a member of the polycomb group (PcG)
            family. The encoded protein is a component of the NuA4 histone
            acetyltransferase complex and can act as both a transcriptional
            activator and repressor. The encoded protein has been linked to
            apoptosis, DNA repair, skeletal muscle differentiation, gene
            silencing, and adult T-cell leukemia/lymphoma. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Dec
            2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.2786120.1,
                                           SRR14038193.3560051.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..618
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p11.22"
     Protein         1..618
                     /product="enhancer of polycomb homolog 1 isoform h"
                     /calculated_mol_wt=71084
     Region          7..148
                     /region_name="EPL1"
                     /note="Enhancer of polycomb-like; pfam10513"
                     /db_xref="CDD:431331"
     Region          335..360
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2F5.1)"
     Region          372..401
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2F5.1)"
     Site            539
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H2F5.1)"
     CDS             1..618
                     /gene="EPC1"
                     /gene_synonym="Epl1"
                     /coded_by="NM_001382756.1:244..2100"
                     /note="isoform h is encoded by transcript variant 10"
                     /db_xref="GeneID:80314"
                     /db_xref="HGNC:HGNC:19876"
                     /db_xref="MIM:610999"
ORIGIN      
        1 msklsfrara ldaskplpvf rcedlpdlhe yasinravpq mptgmekeee sehhlqrais
       61 aqqvygekrd nmvipvpeae sniayyesiy pgefkmpkql ihiqpfslda eqpdydldse
      121 devfvnklkk kmdicplqfe emidrlekgs gqqpvslqea klllkeddel irevyeywik
      181 krkncrgpsl ipsvkqekrd gsstndpyva frrrtekmqt rknrkndeas yekmlklrrd
      241 lsravtilem ikrrekskre llhltleime krynlgdyng eimsevmaqr qpmkptyaip
      301 iipitnssqf khqeamdvke fkvnkqdkad lirpkrkyek kpkvlpssaa atpqqtspaa
      361 lpvfnakdln qydfpssdee plsqvlsgss eaeedndpdg pfafrrkagc qyyaphldqt
      421 gnwpwtspkd gglgdvryry clttltvpqr cigfarrrvg rggrvlldra hsdydsvfhh
      481 ldlemlsspq hspvnqfant setntsdksf skdlsqilvn ikscrwrhfr prtpslhdsd
      541 ndelscrkly rsinrtgtaq pgtqtcstst qsksssgsah fgmltvndvr fyrnvrsnhf
      601 pfvrlcgllh lwlkvlfs
//
LOCUS       NP_001363256             340 aa            linear   PRI 29-DEC-2022
DEFINITION  glycosyltransferase-like domain-containing protein 1 isoform h
            [Homo sapiens].
ACCESSION   NP_001363256 XP_016860440
VERSION     NP_001363256.1
DBSOURCE    REFSEQ: accession NM_001376327.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 340)
  AUTHORS   Liu DY and Zhang L.
  TITLE     MicroRNA-132 promotes neurons cell apoptosis and activates Tau
            phosphorylation by targeting GTDC-1 in Alzheimer's disease
  JOURNAL   Eur Rev Med Pharmacol Sci 23 (19), 8523-8532 (2019)
   PUBMED   31646584
  REMARK    GeneRIF: MicroRNA-132 promotes neurons cell apoptosis and activates
            Tau phosphorylation by targeting GTDC-1 in Alzheimer's disease.
REFERENCE   2  (residues 1 to 340)
  AUTHORS   Igo RP Jr, Hall NB, Malone LL, Hall JB, Truitt B, Qiu F, Tao L,
            Mupere E, Schnell A, Hawn TR, Bush WS, Joloba M, Boom WH and Stein
            CM.
  TITLE     Fine-mapping analysis of a chromosome 2 region linked to resistance
            to Mycobacterium tuberculosis infection in Uganda reveals potential
            regulatory variants
  JOURNAL   Genes Immun 20 (6), 473-483 (2019)
   PUBMED   30100616
  REMARK    GeneRIF: Genomewide linkage scan by a targeted, high-density
            association scan for genetic variants enhancing persistently
            negative tuberculin skin test (PTST) in two independent Ugandan
            tuberculosis household cohorts. Association found with SNPs in
            neighboring genes ZEB2 and GTDC1 supported by both samples.
            Bioinformatic analysis suggests these variants may affect PTST- by
            regulating the histone deacetylase pathway.
REFERENCE   3  (residues 1 to 340)
  AUTHORS   Aksoy I, Utami KH, Winata CL, Hillmer AM, Rouam SL, Briault S,
            Davila S, Stanton LW and Cacheux V.
  TITLE     Personalized genome sequencing coupled with iPSC technology
            identifies GTDC1 as a gene involved in neurodevelopmental disorders
  JOURNAL   Hum Mol Genet 26 (2), 367-382 (2017)
   PUBMED   28365779
  REMARK    GeneRIF: By deriving iPSCs from this patient and differentiating
            them into neural progenitor cells (NPCs) and neurons we dissected
            the disease process at the cellular level and observed defects in
            both NPCs and neuronal cells. We also showed that disruption of
            GTDC1 expression in wild type human NPCs and neurons showed a
            similar phenotype as patient's iPSCs
REFERENCE   4  (residues 1 to 340)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA
            and Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   5  (residues 1 to 340)
  AUTHORS   Shimono N, Nishimura Y, Kamiguchi H and Nishikawa Y.
  TITLE     Remarkable expression in the colon adenocarcinoma of Hmat-Xa, a
            human mannosyltransferase-like gene, that is homologous to
            drosophila gene GC15914
  JOURNAL   Biosci Biotechnol Biochem 75 (8), 1451-1455 (2011)
   PUBMED   21821951
  REMARK    GeneRIF: The elevated expression of the Hmat-Xa gene (GTDC1) might
            serve as a candidate marker for colon adenocarcinoma.
REFERENCE   6  (residues 1 to 340)
  AUTHORS   Akbari MR, Malekzadeh R, Shakeri R, Nasrollahzadeh D, Foumani M,
            Sun Y, Pourshams A, Sadjadi A, Jafari E, Sotoudeh M, Kamangar F,
            Boffetta P, Dawsey SM, Ghadirian P and Narod SA.
  TITLE     Candidate gene association study of esophageal squamous cell
            carcinoma in a high-risk region in Iran
  JOURNAL   Cancer Res 69 (20), 7994-8000 (2009)
   PUBMED   19826048
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 340)
  AUTHORS   Leparc GG and Mitra RD.
  TITLE     Non-EST-based prediction of novel alternatively spliced cassette
            exons with cell signaling function in Caenorhabditis elegans and
            human
  JOURNAL   Nucleic Acids Res 35 (10), 3192-3202 (2007)
   PUBMED   17452356
REFERENCE   8  (residues 1 to 340)
  AUTHORS   Zhao E, Li Y, Fu X, Zhang JY, Zeng H, Zeng L, Lin Y, Chen J, Yin G,
            Qian J, Ying K, Xie Y, Zhao RC and Mao YM.
  TITLE     Cloning and expression of human GTDC1 gene
            (glycosyltransferase-like domain containing 1) from human fetal
            library
  JOURNAL   DNA Cell Biol 23 (3), 183-187 (2004)
   PUBMED   15068588
  REMARK    GeneRIF: relatively high expression level in the adult lung,
            spleen, testis, and peripheral blood leukocyte.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010130.12, AC009957.11 and AC016910.6.
            On Nov 13, 2019 this sequence version replaced XP_016860440.1.
            
            Transcript Variant: This variant (41), as well as variants 10, 19,
            39, 40, and 42, encodes isoform h.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1259421.1,
                                           SRR1803617.139350.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..340
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q22.3"
     Protein         1..340
                     /product="glycosyltransferase-like domain-containing
                     protein 1 isoform h"
                     /note="glycosyltransferase-like domain-containing protein
                     1; glycosyltransferase-like 1; mannosyltransferase
                     candidate; mannosyltransferase-like protein Xa"
                     /calculated_mol_wt=39174
     Region          2..164
                     /region_name="DUF3524"
                     /note="Domain of unknown function (DUF3524); pfam12038"
                     /db_xref="CDD:432280"
     Region          <173..281
                     /region_name="Glycosyltransferase_GTB-type"
                     /note="glycosyltransferase family 1 and related proteins
                     with GTB topology; cd01635"
                     /db_xref="CDD:340816"
     CDS             1..340
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa"
                     /coded_by="NM_001376327.2:225..1247"
                     /note="isoform h is encoded by transcript variant 41"
                     /db_xref="CCDS:CCDS86884.1"
                     /db_xref="GeneID:79712"
                     /db_xref="HGNC:HGNC:20887"
                     /db_xref="MIM:610165"
ORIGIN      
        1 msiliieafy ggshkqlvdl lqeelgdcvv ytlpakkwhw rartsalyfs qtipisehyr
       61 tlfassvlnl telaalrpdl gklkkilyfh enqliypvkk cqerdfqygy nqilsclvad
      121 vvvfnsvfnm esfltsmgkf mklipdhrpk dlesiirpkc qviyfpirfp dvsrehdkdp
      181 esffkvlmhl kdlglnfhvs vlgetftdvp difseakkal gssvlhwgyl pskddyfqvl
      241 cmadvvista kheffgvaml eavycgcypl cpkdlvypei fpaeylystp eqlskrlqnf
      301 ckrpdiirkh lykgeiapfs waalhgkfrs llttepredl
//
LOCUS       NP_848549                266 aa            linear   PRI 30-DEC-2022
DEFINITION  DNA damage-regulated autophagy modulator protein 2 isoform a [Homo
            sapiens].
ACCESSION   NP_848549
VERSION     NP_848549.3
DBSOURCE    REFSEQ: accession NM_178454.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 266)
  AUTHORS   Krasovec T, Volk M, Sustar Habjan M, Hawlina M, Vidovic Valentincic
            N and Fakin A.
  TITLE     The Clinical Spectrum and Disease Course of DRAM2 Retinopathy
  JOURNAL   Int J Mol Sci 23 (13), 7398 (2022)
   PUBMED   35806404
  REMARK    GeneRIF: The Clinical Spectrum and Disease Course of DRAM2
            Retinopathy.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 266)
  AUTHORS   Kuniyoshi K, Hayashi T, Kameya S, Katagiri S, Mizobuchi K,
            Tachibana T, Kubota D, Sakuramoto H, Tsunoda K, Fujinami K,
            Yoshitake K, Iwata T, Nakano T and Kusaka S.
  TITLE     Clinical Course and Electron Microscopic Findings in Lymphocytes of
            Patients with DRAM2-Associated Retinopathy
  JOURNAL   Int J Mol Sci 21 (4), 1331 (2020)
   PUBMED   32079136
  REMARK    GeneRIF: Clinical Course and Electron Microscopic Findings in
            Lymphocytes of Patients with DRAM2-Associated Retinopathy.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 266)
  AUTHORS   Abad-Morales V, Bures-Jelstrup A, Navarro R, Ruiz-Nogales S,
            Mendez-Vendrell P, Corcostegui B and Pomares E.
  TITLE     Characterization of the cone-rod dystrophy retinal phenotype caused
            by novel homozygous DRAM2 mutations
  JOURNAL   Exp Eye Res 187, 107752 (2019)
   PUBMED   31394102
  REMARK    GeneRIF: Three novel homozygous mutations in the autophagy gene
            DRAM2 were identified as the molecular cause of disease in the
            three families: c.518-1G>A, c.628_629insAG and c.693+2T>A.
REFERENCE   4  (residues 1 to 266)
  AUTHORS   Kim JK, Lee HM, Park KS, Shin DM, Kim TS, Kim YS, Suh HW, Kim SY,
            Kim IS, Kim JM, Son JW, Sohn KM, Jung SS, Chung C, Han SB, Yang CS
            and Jo EK.
  TITLE     MIR144* inhibits antimicrobial responses against Mycobacterium
            tuberculosis in human monocytes and macrophages by targeting the
            autophagy protein DRAM2
  JOURNAL   Autophagy 13 (2), 423-441 (2017)
   PUBMED   27764573
  REMARK    GeneRIF: Mycobacterium tuberculosis significantly induces the
            expression of MIR144*/hsa-miR-144-5p, which targets the
            3'-untranslated region of DRAM2.
REFERENCE   5  (residues 1 to 266)
  AUTHORS   Pierdominici M, Maselli A, Locatelli SL, Ciarlo L, Careddu G,
            Patrizio M, Ascione B, Tinari A, Carlo-Stella C, Malorni W,
            Matarrese P and Ortona E.
  TITLE     Estrogen receptor beta ligation inhibits Hodgkin lymphoma growth by
            inducing autophagy
  JOURNAL   Oncotarget 8 (5), 8522-8535 (2017)
   PUBMED   28052027
REFERENCE   6  (residues 1 to 266)
  AUTHORS   Salo PP, Vaara S, Kettunen J, Pirinen M, Sarin AP, Huikuri H,
            Karhunen PJ, Eskola M, Nikus K, Lokki ML, Ripatti S, Havulinna AS,
            Salomaa V, Palotie A, Nieminen MS, Sinisalo J and Perola M.
  TITLE     Genetic Variants on Chromosome 1p13.3 Are Associated with Non-ST
            Elevation Myocardial Infarction and the Expression of DRAM2 in the
            Finnish Population
  JOURNAL   PLoS One 10 (10), e0140576 (2015)
   PUBMED   26509668
  REMARK    GeneRIF: Genetic variants on chromosome 1p13.3 near the
            damage-regulated autophagy modulator 2 gene DRAM2 associated with
            Non-ST Elevation Myocardial Infarction (rs656843; odds ratio 1.57,
            P = 3.11 x 10(-10)) in the case-control analysis.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 266)
  AUTHORS   El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E,
            Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA,
            Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster
            AR, Toomes C and Ali M.
  CONSRTM   UK Inherited Retinal Disease Consortium
  TITLE     Biallelic mutations in the autophagy regulator DRAM2 cause retinal
            dystrophy with early macular involvement
  JOURNAL   Am J Hum Genet 96 (6), 948-954 (2015)
   PUBMED   25983245
  REMARK    GeneRIF: Biallelic mutations in the autophagy regulator DRAM2 cause
            retinal dystrophy with early macular involvement.
REFERENCE   8  (residues 1 to 266)
  AUTHORS   Yoon JH, Her S, Kim M, Jang IS and Park J.
  TITLE     The expression of damage-regulated autophagy modulator 2 (DRAM2)
            contributes to autophagy induction
  JOURNAL   Mol Biol Rep 39 (2), 1087-1093 (2012)
   PUBMED   21584698
  REMARK    GeneRIF: The expression of damage-regulated autophagy modulator 2
            (DRAM2) contributes to autophagy induction.
REFERENCE   9  (residues 1 to 266)
  AUTHORS   Park SM, Kim K, Lee EJ, Kim BK, Lee TJ, Seo T, Jang IS, Lee SH, Kim
            S, Lee JH and Park J.
  TITLE     Reduced expression of DRAM2/TMEM77 in tumor cells interferes with
            cell death
  JOURNAL   Biochem Biophys Res Commun 390 (4), 1340-1344 (2009)
   PUBMED   19895784
  REMARK    GeneRIF: reduced expression of DRAM2 may contribute to enhanced
            cell survival in tumor cells.
REFERENCE   10 (residues 1 to 266)
  AUTHORS   O'Prey J, Skommer J, Wilkinson S and Ryan KM.
  TITLE     Analysis of DRAM-related proteins reveals evolutionarily conserved
            and divergent roles in the control of autophagy
  JOURNAL   Cell Cycle 8 (14), 2260-2265 (2009)
   PUBMED   19556885
  REMARK    GeneRIF: DRAM2 is different from DRAM as it not induced by p53 or
            p73. DRAM2 is also a lysosomal protein, its overexpression does not
            modulate autophagy.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC339928.1, AY358492.1 and
            AL355816.14.
            On Jan 30, 2008 this sequence version replaced NP_848549.2.
            
            Summary: The protein encoded by this gene binds
            microtubule-associated protein 1 light chain 3 and is required for
            autophagy. Defects in this gene are a cause of retinal dystrophy.
            In addition, two microRNAs (microRNA 125b-1 and microRNA 144) can
            bind to the mRNA of this gene and produce the disease state.
            [provided by RefSeq, Mar 2017].
            
            Transcript Variant: This variant (2), as well as variants 1 and
            3-5, encodes isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY336747.1, SRR14038195.2397590.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..266
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     Protein         1..266
                     /product="DNA damage-regulated autophagy modulator protein
                     2 isoform a"
                     /note="transmembrane protein 77; DNA damage-regulated
                     autophagy modulator protein 2; damage regulated autophagy
                     modulator 2"
                     /calculated_mol_wt=29635
     Region          7..233
                     /region_name="Frag1"
                     /note="Frag1/DRAM/Sfk1 family; pfam10277"
                     /db_xref="CDD:431193"
     Site            8..28
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UX65.1)"
     Site            53..73
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UX65.1)"
     Site            88..108
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UX65.1)"
     Site            118..138
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UX65.1)"
     Site            160..180
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UX65.1)"
     Site            207..227
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UX65.1)"
     CDS             1..266
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /coded_by="NM_178454.6:135..935"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS30801.1"
                     /db_xref="GeneID:128338"
                     /db_xref="HGNC:HGNC:28769"
                     /db_xref="MIM:613360"
ORIGIN      
        1 mwwfqqglsf lpsalviwts aafifsyita vtlhhidpal pyisdtgtva pekclfgaml
       61 niaavlciat iyvrykqvha lspeenviik lnkaglvlgi lsclglsiva nfqkttlfaa
      121 hvsgavltfg mgslymfvqt ilsyqmqpki hgkqvfwirl llviwcgvsa lsmltcssvl
      181 hsgnfgtdle qklhwnpedk gyvlhmitta aewsmsfsff gffltyirdf qkislrvean
      241 lhgltlydta pcpinnertr llsrdi
//
LOCUS       NP_001255984             299 aa            linear   PRI 30-DEC-2022
DEFINITION  transcriptional repressor CTCFL isoform 13 [Homo sapiens].
ACCESSION   NP_001255984
VERSION     NP_001255984.1
DBSOURCE    REFSEQ: accession NM_001269055.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 299)
  AUTHORS   Rao GK, Makani VKK, Mendonza JJ, Edathara PM, Patel N, Ramakrishna
            M, Cilamkoti P, Chiring Phukon J, Jose J, Bhadra U and Bhadra MP.
  TITLE     Downregulation of BORIS/CTCFL leads to ROS-dependent cellular
            senescence and drug sensitivity in MYCN-amplified neuroblastoma
  JOURNAL   FEBS J 289 (10), 2915-2934 (2022)
   PUBMED   34854238
  REMARK    GeneRIF: Downregulation of BORIS/CTCFL leads to ROS-dependent
            cellular senescence and drug sensitivity in MYCN-amplified
            neuroblastoma.
REFERENCE   2  (residues 1 to 299)
  AUTHORS   Salgado-Albarran M, Spath J, Gonzalez-Barrios R, Baumbach J and
            Soto-Reyes E.
  TITLE     CTCFL regulates the PI3K-Akt pathway and it is a target for
            personalized ovarian cancer therapy
  JOURNAL   NPJ Syst Biol Appl 8 (1), 5 (2022)
   PUBMED   35132075
  REMARK    GeneRIF: CTCFL regulates the PI3K-Akt pathway and it is a target
            for personalized ovarian cancer therapy.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 299)
  AUTHORS   Makani VKK, Mendonza JJ, Edathara PM, Yerramsetty S and Pal Bhadra
            M.
  TITLE     BORIS/CTCFL expression activates the TGFbeta signaling cascade and
            induces Drp1 mediated mitochondrial fission in neuroblastoma
  JOURNAL   Free Radic Biol Med 176, 62-72 (2021)
   PUBMED   34534628
  REMARK    GeneRIF: BORIS/CTCFL expression activates the TGFbeta signaling
            cascade and induces Drp1 mediated mitochondrial fission in
            neuroblastoma.
REFERENCE   4  (residues 1 to 299)
  AUTHORS   Yao H, Shao Q and Shao Y.
  TITLE     Transcription Factor CTCFL Promotes Cell Proliferation, Migration,
            and Invasion in Gastric Cancer via Activating DPPA2
  JOURNAL   Comput Math Methods Med 2021, 9097931 (2021)
   PUBMED   34721660
  REMARK    GeneRIF: Transcription Factor CTCFL Promotes Cell Proliferation,
            Migration, and Invasion in Gastric Cancer via Activating DPPA2.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 299)
  AUTHORS   Miyata K, Imai Y, Hori S, Nishio M, Loo TM, Okada R, Yang L,
            Nakadai T, Maruyama R, Fujii R, Ueda K, Jiang L, Zheng H, Toyokuni
            S, Sakata T, Shirahige K, Kojima R, Nakayama M, Oshima M, Nagayama
            S, Seimiya H, Hirota T, Saya H, Hara E and Takahashi A.
  TITLE     Pericentromeric noncoding RNA changes DNA binding of CTCF and
            inflammatory gene expression in senescence and cancer
  JOURNAL   Proc Natl Acad Sci U S A 118 (35) (2021)
   PUBMED   34426493
  REMARK    GeneRIF: Pericentromeric noncoding RNA changes DNA binding of CTCF
            and inflammatory gene expression in senescence and cancer.
REFERENCE   6  (residues 1 to 299)
  AUTHORS   Hoffmann MJ, Muller M, Engers R and Schulz WA.
  TITLE     Epigenetic control of CTCFL/BORIS and OCT4 expression in urogenital
            malignancies
  JOURNAL   Biochem Pharmacol 72 (11), 1577-1588 (2006)
   PUBMED   16854382
  REMARK    GeneRIF: The lack of hypomethylation in the CFCFL promoter
            reinforces evidence that 'genome-wide' hypomethylation is not
            random.
REFERENCE   7  (residues 1 to 299)
  AUTHORS   Hong JA, Kang Y, Abdullaev Z, Flanagan PT, Pack SD, Fischette MR,
            Adnani MT, Loukinov DI, Vatolin S, Risinger JI, Custer M, Chen GA,
            Zhao M, Nguyen DM, Barrett JC, Lobanenkov VV and Schrump DS.
  TITLE     Reciprocal binding of CTCF and BORIS to the NY-ESO-1 promoter
            coincides with derepression of this cancer-testis gene in lung
            cancer cells
  JOURNAL   Cancer Res 65 (17), 7763-7774 (2005)
   PUBMED   16140944
  REMARK    GeneRIF: Data indicate that reciprocal binding of CTCF and BORIS to
            the NY-ESO-1 promoter mediates epigenetic regulation of this CT
            gene in lung cancer cells.
REFERENCE   8  (residues 1 to 299)
  AUTHORS   Klenova EM, Morse HC 3rd, Ohlsson R and Lobanenkov VV.
  TITLE     The novel BORIS + CTCF gene family is uniquely involved in the
            epigenetics of normal biology and cancer
  JOURNAL   Semin Cancer Biol 12 (5), 399-414 (2002)
   PUBMED   12191639
  REMARK    Review article
REFERENCE   9  (residues 1 to 299)
  AUTHORS   Loukinov DI, Pugacheva E, Vatolin S, Pack SD, Moon H, Chernukhin I,
            Mannan P, Larsson E, Kanduri C, Vostrov AA, Cui H, Niemitz EL,
            Rasko JE, Docquier FM, Kistler M, Breen JJ, Zhuang Z, Quitschke WW,
            Renkawitz R, Klenova EM, Feinberg AP, Ohlsson R, Morse HC 3rd and
            Lobanenkov VV.
  TITLE     BORIS, a novel male germ-line-specific protein associated with
            epigenetic reprogramming events, shares the same 11-zinc-finger
            domain with CTCF, the insulator protein involved in reading
            imprinting marks in the soma
  JOURNAL   Proc Natl Acad Sci U S A 99 (10), 6806-6811 (2002)
   PUBMED   12011441
REFERENCE   10 (residues 1 to 299)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL035541.15 and AL160176.3.
            
            Summary: CCCTC-binding factor (CTCF), an 11-zinc-finger factor
            involved in gene regulation, utilizes different zinc fingers to
            bind varying DNA target sites. CTCF forms methylation-sensitive
            insulators that regulate X-chromosome inactivation. This gene is a
            paralog of CTCF and appears to be expressed primarily in the
            cytoplasm of spermatocytes, unlike CTCF which is expressed
            primarily in the nucleus of somatic cells. CTCF and the protein
            encoded by this gene are normally expressed in a mutually exclusive
            pattern that correlates with resetting of methylation marks during
            male germ cell differentiation. Multiple alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jun 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ778127.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..299
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.31"
     Protein         1..299
                     /product="transcriptional repressor CTCFL isoform 13"
                     /note="cancer/testis antigen 27; brother of the regulator
                     of imprinted sites; BORIS-like protein"
                     /calculated_mol_wt=35286
     Region          <3..141
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          25..45
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          53..74
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(53,56,69,74)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          82..102
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(82,85,98,102)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(87,89,91,93..94,97..98,101,115,117,121..122,
                     125..126,129,143,145,147,149..150,153..154)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          110..130
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <130..>170
                     /region_name="SUF4-like"
                     /note="N-terminal domain of Oryza sativa transcription
                     factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana
                     SUF4 (AtSUF4), and similar proteins; cd20908"
                     /db_xref="CDD:411020"
     Region          138..159
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          138..155
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          168..186
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          198..218
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(198,201,214,218)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(203,205,207,209..210,213..214,217,231,233,237..238,
                     241..242,245,259,261,263,265..266,269..270)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          226..246
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          254..272
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..299
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /coded_by="NM_001269055.3:146..1045"
                     /note="isoform 13 is encoded by transcript variant 16"
                     /db_xref="CCDS:CCDS68161.1"
                     /db_xref="GeneID:140690"
                     /db_xref="HGNC:HGNC:16234"
                     /db_xref="MIM:607022"
ORIGIN      
        1 mftssrmssf nrhmkthtse kphlchlclk tfrtvtllrn hvnthtgtrp ykcndcnmaf
       61 vtsgelvrhr rykhthekpf kcsmckyasv easklkrhvr shtgerpfqc cqcsyasrdt
      121 yklkrhmrth sgekpyechi chtrftqsgt mkihilqkhg envpkyqcph catiiarksd
      181 lrvhmrnlha ysaaelkcry csavfherya liqhqkthkn ekrfkckhcs yackqerhmt
      241 ahirthtgek pftclscnkc frqkqllnah frkyhdanfi ptvykcskcg kgfsrwvly
//
LOCUS       NP_001269522             149 aa            linear   PRI 30-DEC-2022
DEFINITION  SLAM family member 7 isoform g [Homo sapiens].
ACCESSION   NP_001269522
VERSION     NP_001269522.1
DBSOURCE    REFSEQ: accession NM_001282593.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 149)
  AUTHORS   O'Connell P, Blake MK, Godbehere S, Amalfitano A and Aldhamen YA.
  TITLE     SLAMF7 modulates B cells and adaptive immunity to regulate
            susceptibility to CNS autoimmunity
  JOURNAL   J Neuroinflammation 19 (1), 241 (2022)
   PUBMED   36199066
  REMARK    GeneRIF: SLAMF7 modulates B cells and adaptive immunity to regulate
            susceptibility to CNS autoimmunity.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 149)
  AUTHORS   Simmons DP, Nguyen HN, Gomez-Rivas E, Jeong Y, Jonsson AH, Chen AF,
            Lange JK, Dyer GS, Blazar P, Earp BE, Coblyn JS, Massarotti EM,
            Sparks JA, Todd DJ, Rao DA, Kim EY and Brenner MB.
  CONSRTM   Accelerating Medicines Partnership (AMP) RA/SLE Network
  TITLE     SLAMF7 engagement superactivates macrophages in acute and chronic
            inflammation
  JOURNAL   Sci Immunol 7 (68), eabf2846 (2022)
   PUBMED   35148199
  REMARK    GeneRIF: SLAMF7 engagement superactivates macrophages in acute and
            chronic inflammation.
REFERENCE   3  (residues 1 to 149)
  AUTHORS   Gutierrez-Guerrero A, Mancilla-Herrera I, Maravillas-Montero JL,
            Martinez-Duncker I, Veillette A and Cruz-Munoz ME.
  TITLE     SLAMF7 selectively favors degranulation to promote cytotoxicity in
            human NK cells
  JOURNAL   Eur J Immunol 52 (1), 62-74 (2022)
   PUBMED   34693521
  REMARK    GeneRIF: SLAMF7 selectively favors degranulation to promote
            cytotoxicity in human NK cells.
REFERENCE   4  (residues 1 to 149)
  AUTHORS   Roh SA, Kwon YH, Lee JL, Kim SK and Kim JC.
  TITLE     SLAMF7 and TREM1 Mediate Immunogenic Cell Death in Colorectal
            Cancer Cells: Focus on Microsatellite Stability
  JOURNAL   Anticancer Res 41 (11), 5431-5444 (2021)
   PUBMED   34732412
  REMARK    GeneRIF: SLAMF7 and TREM1 Mediate Immunogenic Cell Death in
            Colorectal Cancer Cells: Focus on Microsatellite Stability.
REFERENCE   5  (residues 1 to 149)
  AUTHORS   Geis M, Nowotny B, Bohn MD, Kouhestani D, Einsele H, Bumm T and
            Stuhler G.
  TITLE     Combinatorial targeting of multiple myeloma by complementing T cell
            engaging antibody fragments
  JOURNAL   Commun Biol 4 (1), 44 (2021)
   PUBMED   33420283
  REMARK    GeneRIF: Combinatorial targeting of multiple myeloma by
            complementing T cell engaging antibody fragments.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 149)
  AUTHORS   Lee JK, Boles KS and Mathew PA.
  TITLE     Molecular and functional characterization of a CS1 (CRACC) splice
            variant expressed in human NK cells that does not contain
            immunoreceptor tyrosine-based switch motifs
  JOURNAL   Eur J Immunol 34 (10), 2791-2799 (2004)
   PUBMED   15368295
  REMARK    GeneRIF: CS1-L and CS1-S may differentially regulate human NK cell
            functions
REFERENCE   7  (residues 1 to 149)
  AUTHORS   Tovar V, del Valle J, Zapater N, Martin M, Romero X, Pizcueta P,
            Bosch J, Terhorst C and Engel P.
  TITLE     Mouse novel Ly9: a new member of the expanding CD150 (SLAM) family
            of leukocyte cell-surface receptors
  JOURNAL   Immunogenetics 54 (6), 394-402 (2002)
   PUBMED   12242590
REFERENCE   8  (residues 1 to 149)
  AUTHORS   Murphy JJ, Hobby P, Vilarino-Varela J, Bishop B, Iordanidou P,
            Sutton BJ and Norton JD.
  TITLE     A novel immunoglobulin superfamily receptor (19A) related to CD2 is
            expressed on activated lymphocytes and promotes homotypic B-cell
            adhesion
  JOURNAL   Biochem J 361 (Pt 3), 431-436 (2002)
   PUBMED   11802771
REFERENCE   9  (residues 1 to 149)
  AUTHORS   Bouchon A, Cella M, Grierson HL, Cohen JI and Colonna M.
  TITLE     Activation of NK cell-mediated cytotoxicity by a SAP-independent
            receptor of the CD2 family
  JOURNAL   J Immunol 167 (10), 5517-5521 (2001)
   PUBMED   11698418
REFERENCE   10 (residues 1 to 149)
  AUTHORS   Boles KS and Mathew PA.
  TITLE     Molecular cloning of CS1, a novel human natural killer cell
            receptor belonging to the CD2 subset of the immunoglobulin
            superfamily
  JOURNAL   Immunogenetics 52 (3-4), 302-307 (2001)
   PUBMED   11220635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC388332.1, AK301137.1, AL121985.13 and BQ000581.1.
            
            Transcript Variant: This variant (7) lacks an alternate in-frame
            exon in the 5' coding region, and also lacks two alternate exons
            that result in a frameshift in the 3' coding region, compared to
            variant 1. The encoded isoform (g) has a distinct C-terminus and is
            shorter than isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.1685434.1,
                                           SRR14038195.2264335.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..149
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     Protein         1..149
                     /product="SLAM family member 7 isoform g"
                     /note="CD2-like receptor activating cytotoxic cells; 19A24
                     protein; novel LY9 (lymphocyte antigen 9) like protein;
                     protein 19A; CD2 subset 1; membrane protein FOAP-12"
                     /calculated_mol_wt=16346
     CDS             1..149
                     /gene="SLAMF7"
                     /gene_synonym="19A; CD319; CRACC; CS1"
                     /coded_by="NM_001282593.2:56..505"
                     /note="isoform g is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS72956.1"
                     /db_xref="GeneID:57823"
                     /db_xref="HGNC:HGNC:21394"
                     /db_xref="MIM:606625"
ORIGIN      
        1 magsptcltl iyilwqlteh lskpkvtmgl qsnkngtcvt nltccmehge edviytwkal
       61 gqaaneshng silpiswrwg esdmtficva rnpvsrnfss pilarklcee nnpkgrssky
      121 gllhcgntek dgkspltahd arhtkaicl
//
LOCUS       NP_001263239             169 aa            linear   PRI 30-DEC-2022
DEFINITION  stathmin-3 isoform 2 [Homo sapiens].
ACCESSION   NP_001263239
VERSION     NP_001263239.1
DBSOURCE    REFSEQ: accession NM_001276310.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 169)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 169)
  AUTHORS   Zhang Y, Ni S, Huang B, Wang L, Zhang X, Li X, Wang H, Liu S, Hao A
            and Li X.
  TITLE     Overexpression of SCLIP promotes growth and motility in
            glioblastoma cells
  JOURNAL   Cancer Biol Ther 16 (1), 97-105 (2015)
   PUBMED   25511414
  REMARK    GeneRIF: our findings demonstrate that SCLIP plays an important
            role in glioma pathology, and may represent a novel therapeutic
            strategy against human glioma.
REFERENCE   3  (residues 1 to 169)
  AUTHORS   Nair S, Bora-Singhal N, Perumal D and Chellappan S.
  TITLE     Nicotine-mediated invasion and migration of non-small cell lung
            carcinoma cells by modulating STMN3 and GSPT1 genes in an
            ID1-dependent manner
  JOURNAL   Mol Cancer 13, 173 (2014)
   PUBMED   25028095
  REMARK    GeneRIF: Overexpression of ID1 in two different cell lines induced
            STMN3 and GSPT1 at the transcriptional level, while depletion of
            ID1 reduced their expression.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 169)
  AUTHORS   Yip YY, Yeap YY, Bogoyevitch MA and Ng DC.
  TITLE     Differences in c-Jun N-terminal kinase recognition and
            phosphorylation of closely related stathmin-family members
  JOURNAL   Biochem Biophys Res Commun 446 (1), 248-254 (2014)
   PUBMED   24589734
  REMARK    GeneRIF: STMN and SCG10 are similarly targeted by JNK but there are
            clear differences in JNK recognition and phosphorylation of the
            closely related family member, SCLIP.
REFERENCE   5  (residues 1 to 169)
  AUTHORS   Xie X, Bartholomeusz C, Ahmed AA, Kazansky A, Diao L, Baggerly KA,
            Hortobagyi GN and Ueno NT.
  TITLE     Bisphosphorylated PEA-15 sensitizes ovarian cancer cells to
            paclitaxel by impairing the microtubule-destabilizing effect of
            SCLIP
  JOURNAL   Mol Cancer Ther 12 (6), 1099-1111 (2013)
   PUBMED   23543364
  REMARK    GeneRIF: We found that reduced expression and possibly
            posttranslational modification of SCLIP following paclitaxel
            treatment impaired the microtubule-destabilizing effect of SCLIP
REFERENCE   6  (residues 1 to 169)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   7  (residues 1 to 169)
  AUTHORS   Charbaut E, Curmi PA, Ozon S, Lachkar S, Redeker V and Sobel A.
  TITLE     Stathmin family proteins display specific molecular and tubulin
            binding properties
  JOURNAL   J Biol Chem 276 (19), 16146-16154 (2001)
   PUBMED   11278715
REFERENCE   8  (residues 1 to 169)
  AUTHORS   Bai C, Connolly B, Metzker ML, Hilliard CA, Liu X, Sandig V,
            Soderman A, Galloway SM, Liu Q, Austin CP and Caskey CT.
  TITLE     Overexpression of M68/DcR3 in human gastrointestinal tract tumors
            independent of gene amplification and its location in a four-gene
            cluster
  JOURNAL   Proc Natl Acad Sci U S A 97 (3), 1230-1235 (2000)
   PUBMED   10655513
REFERENCE   9  (residues 1 to 169)
  AUTHORS   Gavet O, Ozon S, Manceau V, Lawler S, Curmi P and Sobel A.
  TITLE     The stathmin phosphoprotein family: intracellular localization and
            effects on the microtubule network
  JOURNAL   J Cell Sci 111 (Pt 22), 3333-3346 (1998)
   PUBMED   9788875
REFERENCE   10 (residues 1 to 169)
  AUTHORS   Ozon S, Byk T and Sobel A.
  TITLE     SCLIP: a novel SCG10-like protein of the stathmin family expressed
            in the nervous system
  JOURNAL   J Neurochem 70 (6), 2386-2396 (1998)
   PUBMED   9603203
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK298903.1 and AL353715.21.
            
            Summary: This gene encodes a protein which is a member of the
            stathmin protein family. Members of this protein family form a
            complex with tubulins at a ratio of 2 tubulins for each stathmin
            protein. Microtubules require the ordered assembly of alpha- and
            beta-tubulins, and formation of a complex with stathmin disrupts
            microtubule formation and function. A pseudogene of this gene is
            located on chromosome 22. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jan 2013].
            
            Transcript Variant: This variant (2) contains an alternate 5' exon
            and uses a downstream start codon, compared to variant 1. The
            resulting protein (isoform 2) is shorter and has a distinct
            N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK298903.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..169
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     Protein         1..169
                     /product="stathmin-3 isoform 2"
                     /note="SCG10-like protein; stathmin-like 3"
                     /calculated_mol_wt=19675
     Region          28..163
                     /region_name="Stathmin"
                     /note="Stathmin family; pfam00836"
                     /db_xref="CDD:425897"
     CDS             1..169
                     /gene="STMN3"
                     /gene_synonym="SCLIP"
                     /coded_by="NM_001276310.2:209..718"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS63330.1"
                     /db_xref="GeneID:50861"
                     /db_xref="HGNC:HGNC:15926"
                     /db_xref="MIM:608362"
ORIGIN      
        1 mkelsvlsli cscfytqphp ntvyqygdme vkqldkrasg qsfevilksp sdlspespml
       61 ssppkkkdts leelqkrlea aeerrktqea qvlkqlaerr eherevlhka leennnfsrq
      121 aeeklnykme lskeireahl aalrerlrek elhaaevrrn keqreemsg
//
LOCUS       NP_001273432             814 aa            linear   PRI 30-DEC-2022
DEFINITION  heat shock protein 105 kDa isoform 2 [Homo sapiens].
ACCESSION   NP_001273432 XP_005266294
VERSION     NP_001273432.1
DBSOURCE    REFSEQ: accession NM_001286503.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 814)
  AUTHORS   Teshima H, Watanabe H, Yasutake R, Ikeda Y, Yonezu Y, Okamoto N,
            Kakihana A, Yuki R, Nakayama Y and Saito Y.
  TITLE     Functional differences between Hsp105/110 family proteins in cell
            proliferation, cell division, and drug sensitivity
  JOURNAL   J Cell Biochem 122 (12), 1958-1967 (2021)
   PUBMED   34617313
  REMARK    GeneRIF: Functional differences between Hsp105/110 family proteins
            in cell proliferation, cell division, and drug sensitivity.
REFERENCE   2  (residues 1 to 814)
  AUTHORS   Chen KJ, Li FZ, Ye Q, Jia M and Fang S.
  TITLE     HSP105 expression in cutaneous malignant melanoma: Correlation with
            clinicopathological characteristics
  JOURNAL   PLoS One 16 (10), e0258053 (2021)
   PUBMED   34618840
  REMARK    GeneRIF: HSP105 expression in cutaneous malignant melanoma:
            Correlation with clinicopathological characteristics.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 814)
  AUTHORS   Li Y, Zhang N, Zhang L, Song Y, Liu J, Yu J and Yang M.
  TITLE     Oncogene HSPH1 modulated by the rs2280059 genetic variant
            diminishes EGFR-TKIs efficiency in advanced lung adenocarcinoma
  JOURNAL   Carcinogenesis 41 (9), 1195-1202 (2020)
   PUBMED   32815538
  REMARK    GeneRIF: Oncogene HSPH1 modulated by the rs2280059 genetic variant
            diminishes EGFR-TKIs efficiency in advanced lung adenocarcinoma.
REFERENCE   4  (residues 1 to 814)
  AUTHORS   Arvanitidou S, Martinelli-Klay CP, Samson J, Lobrinus JA, Dulguerov
            N and Lombardi T.
  TITLE     HSP105 expression in oral squamous cell carcinoma: Correlation with
            clinicopathological features and outcomes
  JOURNAL   J Oral Pathol Med 49 (7), 665-671 (2020)
   PUBMED   32128880
  REMARK    GeneRIF: HSP105 expression in oral squamous cell carcinoma:
            Correlation with clinicopathological features and outcomes.
REFERENCE   5  (residues 1 to 814)
  AUTHORS   Causse SZ, Marcion G, Chanteloup G, Uyanik B, Boudesco C, Grigorash
            BB, Douhard R, Dias AMM, Dumetier B, Dondaine L, Gozzi GJ, Moussay
            E, Paggetti J, Mirjolet C, de Thonel A, Dubrez L, Demidov ON, Gobbo
            J and Garrido C.
  TITLE     HSP110 translocates to the nucleus upon genotoxic chemotherapy and
            promotes DNA repair in colorectal cancer cells
  JOURNAL   Oncogene 38 (15), 2767-2777 (2019)
   PUBMED   30542121
  REMARK    GeneRIF: HSP110 through its interaction with the Ku70/80
            heterodimer may participate in DNA repair.
REFERENCE   6  (residues 1 to 814)
  AUTHORS   Hylander BL, Chen X, Graf PC and Subjeck JR.
  TITLE     The distribution and localization of hsp110 in brain
  JOURNAL   Brain Res 869 (1-2), 49-55 (2000)
   PUBMED   10865058
REFERENCE   7  (residues 1 to 814)
  AUTHORS   Ishihara K, Yasuda K and Hatayama T.
  TITLE     Phosphorylation of the 105-kDa heat shock proteins, HSP105alpha and
            HSP105beta, by casein kinase II
  JOURNAL   Biochem Biophys Res Commun 270 (3), 927-931 (2000)
   PUBMED   10772927
REFERENCE   8  (residues 1 to 814)
  AUTHORS   Ishihara K, Yasuda K and Hatayama T.
  TITLE     Molecular cloning, expression and localization of human 105 kDa
            heat shock protein, hsp105
  JOURNAL   Biochim Biophys Acta 1444 (1), 138-142 (1999)
   PUBMED   9931472
REFERENCE   9  (residues 1 to 814)
  AUTHORS   Hatayama T, Yasuda K and Yasuda K.
  TITLE     Association of HSP105 with HSC70 in high molecular mass complexes
            in mouse FM3A cells
  JOURNAL   Biochem Biophys Res Commun 248 (2), 395-401 (1998)
   PUBMED   9675148
REFERENCE   10 (residues 1 to 814)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB077644.1, AB003333.1,
            BC037553.1 and AL137142.20.
            On Nov 7, 2013 this sequence version replaced XP_005266294.1.
            
            Summary: This gene encodes a member of the heat shock protein 70
            family of proteins. The encoded protein functions as a nucleotide
            exchange factor for the molecular chaperone heat shock cognate 71
            kDa protein (Hsc70). In addition, this protein plays a distinct but
            related role as a holdase that inhibits the aggregation of
            misfolded proteins, including the cystic fibrosis transmembrane
            conductance regulator (CFTR) protein. Elevated expression of this
            protein has been observed in numerous human cancers. [provided by
            RefSeq, Mar 2017].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon, compared to variant 1. The encoded isoform (2, also known as
            Hsp105beta) is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB003333.1, SRR1660807.84963.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..814
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.3"
     Protein         1..814
                     /product="heat shock protein 105 kDa isoform 2"
                     /note="heat shock protein 105 kDa; antigen NY-CO-25; heat
                     shock 105kDa/110kDa protein 1"
                     /calculated_mol_wt=91985
     Region          2..384
                     /region_name="HSPH1_NBD"
                     /note="Nucleotide-binding domain of HSPH1; cd11739"
                     /db_xref="CDD:212689"
     Site            order(9..12,68,202,204..207,233,271,274..275,278,342..344,
                     346..347)
                     /site_type="other"
                     /note="nucleotide binding site [chemical binding]"
                     /db_xref="CDD:212689"
     Site            order(18,21..24,29..33,54..55,57..58,138..139,184,265,275,
                     278..280,287,289..290,346,364..367,370,374,378,381..384)
                     /site_type="other"
                     /note="HSP70 interaction site [polypeptide binding]"
                     /db_xref="CDD:212689"
     Site            order(44..46,78,112,116,119..120,123,127,150..151,
                     153..154,158,162,169..170,172,221)
                     /site_type="other"
                     /note="SBD interface [polypeptide binding]"
                     /db_xref="CDD:212689"
     CDS             1..814
                     /gene="HSPH1"
                     /gene_synonym="HSP105; HSP105A; HSP105B; NY-CO-25"
                     /coded_by="NM_001286503.2:323..2767"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS66525.1"
                     /db_xref="GeneID:10808"
                     /db_xref="HGNC:HGNC:16969"
                     /db_xref="MIM:610703"
ORIGIN      
        1 msvvgldvgs qscyiavara ggietianef sdrctpsvis fgsknrtigv aaknqqitha
       61 nntvsnfkrf hgrafndpfi qkekenlsyd lvplknggvg ikvmymgeeh lfsveqitam
      121 lltklketae nslkkpvtdc visvpsfftd aerrsvldaa qivglnclrl mndmtavaln
      181 ygiykqdlps ldekprivvf vdmghsafqv sacafnkgkl kvlgtafdpf lggknfdekl
      241 vehfcaefkt kykldakski rallrlyqec eklkklmssn stdlplniec fmndkdvsgk
      301 mnrsqfeelc aellqkievp lyslleqthl kvedvsavei vggatripav keriakffgk
      361 disttlnade avargcalqc ailspafkvr efsvtdavpf pisliwnhds edtegvhevf
      421 srnhaapfsk vltflrrgpf eleafysdpq gvpypeakig rfvvqnvsaq kdgeksrvkv
      481 kvrvnthgif tistasmvek vpteenemss eadmeclnqr ppenpdtdan ekkvdqppea
      541 kkpkikvvnv elpieanlvw qlgkdllnmy ietegkmimq dklekernda knaveeyvye
      601 frdklcgpye kficeqdhqn flrllteted wlyeegedqa kqayvdklee lmkigtpvkv
      661 rfqeaeerpk mfeelgqrlq hyakiaadfr nkdekynhid esemkkveks vnevmewmnn
      721 vmnaqakksl dqdpvvraqe iktkikelnn tcepvvtqpk pkiespkler tpngpnidkk
      781 eedledknnf gaepphqnge cypneknsvn mdld
//
LOCUS       NP_001012983             137 aa            linear   PRI 30-DEC-2022
DEFINITION  kallikrein-6 isoform B [Homo sapiens].
ACCESSION   NP_001012983
VERSION     NP_001012983.1
DBSOURCE    REFSEQ: accession NM_001012965.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 137)
  AUTHORS   Zhang L, Lovell S, De Vita E, Jagtap PKA, Lucy D, Goya Grocin A,
            Kjaer S, Borg A, Hennig J, Miller AK and Tate EW.
  TITLE     A KLK6 Activity-Based Probe Reveals a Role for KLK6 Activity in
            Pancreatic Cancer Cell Invasion
  JOURNAL   J Am Chem Soc 144 (49), 22493-22504 (2022)
   PUBMED   36413626
  REMARK    GeneRIF: A KLK6 Activity-Based Probe Reveals a Role for KLK6
            Activity in Pancreatic Cancer Cell Invasion.
REFERENCE   2  (residues 1 to 137)
  AUTHORS   Zhao K, Gao M and Lin M.
  TITLE     KLK6 Functions as an Oncogene and Unfavorable Prognostic Factor in
            Bladder Urothelial Carcinoma
  JOURNAL   Dis Markers 2022, 3373851 (2022)
   PUBMED   36193495
  REMARK    GeneRIF: KLK6 Functions as an Oncogene and Unfavorable Prognostic
            Factor in Bladder Urothelial Carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 137)
  AUTHORS   Bouzid H, Soualmia F, Oikonomopoulou K, Soosaipillai A, Walker F,
            Louati K, Lo Dico R, Pocard M, El Amri C, Ignatenko NA and Darmoul
            D.
  TITLE     Kallikrein-Related Peptidase 6 (KLK6) as a Contributor toward an
            Aggressive Cancer Cell Phenotype: A Potential Role in Colon Cancer
            Peritoneal Metastasis
  JOURNAL   Biomolecules 12 (7), 1003 (2022)
   PUBMED   35883559
  REMARK    GeneRIF: Kallikrein-Related Peptidase 6 (KLK6) as a Contributor
            toward an Aggressive Cancer Cell Phenotype: A Potential Role in
            Colon Cancer Peritoneal Metastasis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 137)
  AUTHORS   Pandey R, Zhou M, Chen Y, Darmoul D, Kisiel CC, Nfonsam VN and
            Ignatenko NA.
  TITLE     Molecular Pathways Associated with Kallikrein 6 Overexpression in
            Colorectal Cancer
  JOURNAL   Genes (Basel) 12 (5), 749 (2021)
   PUBMED   34065672
  REMARK    GeneRIF: Molecular Pathways Associated with Kallikrein 6
            Overexpression in Colorectal Cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 137)
  AUTHORS   Bayani J and Diamandis EP.
  TITLE     The physiology and pathobiology of human kallikrein-related
            peptidase 6 (KLK6)
  JOURNAL   Clin Chem Lab Med 50 (2), 211-233 (2011)
   PUBMED   22047144
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 137)
  AUTHORS   Gan L, Lee I, Smith R, Argonza-Barrett R, Lei H, McCuaig J, Moss P,
            Paeper B and Wang K.
  TITLE     Sequencing and expression analysis of the serine protease gene
            cluster located in chromosome 19q13 region
  JOURNAL   Gene 257 (1), 119-130 (2000)
   PUBMED   11054574
REFERENCE   7  (residues 1 to 137)
  AUTHORS   Yousef GM, Luo LY, Scherer SW, Sotiropoulou G and Diamandis EP.
  TITLE     Molecular characterization of zyme/protease M/neurosin (PRSS9), a
            hormonally regulated kallikrein-like serine protease
  JOURNAL   Genomics 62 (2), 251-259 (1999)
   PUBMED   10610719
REFERENCE   8  (residues 1 to 137)
  AUTHORS   Little SP, Dixon EP, Norris F, Buckley W, Becker GW, Johnson M,
            Dobbins JR, Wyrick T, Miller JR, MacKellar W, Hepburn D, Corvalan
            J, McClure D, Liu X, Stephenson D, Clemens J and Johnstone EM.
  TITLE     Zyme, a novel and potentially amyloidogenic enzyme cDNA isolated
            from Alzheimer's disease brain
  JOURNAL   J Biol Chem 272 (40), 25135-25142 (1997)
   PUBMED   9312124
REFERENCE   9  (residues 1 to 137)
  AUTHORS   Yamashiro K, Tsuruoka N, Kodama S, Tsujimoto M, Yamamura Y, Tanaka
            T, Nakazato H and Yamaguchi N.
  TITLE     Molecular cloning of a novel trypsin-like serine protease
            (neurosin) preferentially expressed in brain
  JOURNAL   Biochim Biophys Acta 1350 (1), 11-14 (1997)
   PUBMED   9003450
REFERENCE   10 (residues 1 to 137)
  AUTHORS   Anisowicz A, Sotiropoulou G, Stenman G, Mok SC and Sager R.
  TITLE     A novel protease homolog differentially expressed in breast and
            ovarian cancer
  JOURNAL   Mol Med 2 (5), 624-636 (1996)
   PUBMED   8898378
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011483.7.
            
            Summary: This gene encodes a member of the kallikrein subfamily of
            the peptidase S1 family of serine proteases. Growing evidence
            suggests that many kallikreins are implicated in carcinogenesis and
            some have potential as novel cancer and other disease biomarkers.
            The encoded preproprotein is proteolytically processed to generate
            the mature protease. Expression of this protease is regulated by
            steroid hormones and may be elevated in multiple human cancers and
            in serum from psoriasis patients. The encoded protease may
            participate in the cleavage of amyloid precursor protein and
            alpha-synuclein, thus implicating this protease in Alzheimer's and
            Parkinson's disease, respectively. This gene is located in a gene
            cluster on chromosome 19. Alternative splicing results in multiple
            transcript variants, at least one of which encodes an isoform that
            is proteolytically processed. [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (C, also known as 2) differs in
            the 5' UTR, lacks a portion of the 5' coding region and uses a
            downstream translation start site compared to variant A. The
            resulting isoform (B) has a shorter N-terminus compared to isoform
            A. Variants C-E encode the same isoform (B).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY318870.1, SRR14038192.1209810.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146982, SAMEA2147975
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..137
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     Protein         1..137
                     /product="kallikrein-6 isoform B"
                     /note="zyme; neurosin; protease M; serine protease 9;
                     serine protease 18"
                     /calculated_mol_wt=14924
     Region          <1..130
                     /region_name="Tryp_SPc"
                     /note="Trypsin-like serine protease; smart00020"
                     /db_xref="CDD:214473"
     Site            order(84,105,107)
                     /site_type="other"
                     /note="substrate binding sites [chemical binding]"
                     /db_xref="CDD:238113"
     CDS             1..137
                     /gene="KLK6"
                     /gene_synonym="Bssp; hK6; Klk7; PRSS18; PRSS9; SP59"
                     /coded_by="NM_001012965.3:509..922"
                     /note="isoform B is encoded by transcript variant C"
                     /db_xref="CCDS:CCDS42599.1"
                     /db_xref="GeneID:5653"
                     /db_xref="HGNC:HGNC:6367"
                     /db_xref="MIM:602652"
ORIGIN      
        1 mllrlarpak lseliqplpl erdcsantts chilgwgkta dgdfpdtiqc ayihlvsree
       61 cehaypgqit qnmlcagdek ygkdscqgds ggplvcgdhl rglvswgnip cgskekpgvy
      121 tnvcrytnwi qktiqak
//
LOCUS       NP_940881                508 aa            linear   PRI 31-DEC-2022
DEFINITION  tetra-peptide repeat homeobox protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_940881 XP_209160
VERSION     NP_940881.3
DBSOURCE    REFSEQ: accession NM_198479.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 508)
  AUTHORS   Zou Z, Zhang C, Wang Q, Hou Z, Xiong Z, Kong F, Wang Q, Song J, Liu
            B, Liu B, Wang L, Lai F, Fan Q, Tao W, Zhao S, Ma X, Li M, Wu K,
            Zhao H, Chen ZJ and Xie W.
  TITLE     Translatome and transcriptome co-profiling reveals a role of TPRXs
            in human zygotic genome activation
  JOURNAL   Science 378 (6615), abo7923 (2022)
   PUBMED   36074823
REFERENCE   2  (residues 1 to 508)
  AUTHORS   Madissoon E, Jouhilahti EM, Vesterlund L, Tohonen V, Krjutskov K,
            Petropoulos S, Einarsdottir E, Linnarsson S, Lanner F, Mansson R,
            Hovatta O, Burglin TR, Katayama S and Kere J.
  TITLE     Characterization and target genes of nine human PRD-like homeobox
            domain genes expressed exclusively in early embryos
  JOURNAL   Sci Rep 6, 28995 (2016)
   PUBMED   27412763
  REMARK    Erratum:[Sci Rep. 2016 Sep 02;6:32053. PMID: 27586261]
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 508)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   4  (residues 1 to 508)
  AUTHORS   Booth HA and Holland PW.
  TITLE     Annotation, nomenclature and evolution of four novel homeobox genes
            expressed in the human germ line
  JOURNAL   Gene 387 (1-2), 7-14 (2007)
   PUBMED   17005330
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. This record has been curated by NCBI staff in
            collaboration with Anne Booth and Peter Holland. The reference
            sequence was derived from AC008745.7.
            On Jul 13, 2021 this sequence version replaced NP_940881.2.
            
            Summary: Homeobox genes encode DNA-binding proteins, many of which
            are thought to be involved in early embryonic development. Homeobox
            genes encode a DNA-binding domain of 60 to 63 amino acids referred
            to as the homeodomain. This gene is a member of the TPRX homeobox
            gene family. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ340180.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2148874,
                                           SAMEA2158188 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..508
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..508
                     /product="tetra-peptide repeat homeobox protein 1 isoform
                     2"
                     /note="tetra-peptide repeat homeobox protein 1; CRX like
                     homeobox 2; tetra-peptide repeat homeobox 1"
                     /calculated_mol_wt=51817
     Site            order(63..67,69,86,92,105,107..108,111..112,114..116,
                     118..119)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Site            order(65,68,108,111..112,115)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          66..116
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     CDS             1..508
                     /gene="TPRX1"
                     /gene_synonym="TPRX"
                     /coded_by="NM_198479.3:1..1527"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS33066.2"
                     /db_xref="GeneID:284355"
                     /db_xref="HGNC:HGNC:32174"
                     /db_xref="MIM:611166"
ORIGIN      
        1 mdeagnhhse qtitrtenqt phalahrrmg pclscsqlys qylglsqths spplaldppr
       61 rqrqertvyt esqqkvlefy fqkdqypnyd qrlnlaemls lreqqlqvwf knrraklare
      121 rrlqqqpqrv pgqrgrgara aplvpaasas apqrgpsgil paaepticsl hqawggpgcr
      181 aqkgipaals pgpgpipapi pgpaqipgpl pgsipgpipg paqipspipa pipgpisgpv
      241 qipgpfrgpi pgpisgpapi pgpisgpfsg pnpgpipgpn pgpipgpisg pipgpisvpi
      301 pgpipgpisg pisgpnpgpi pgpipgpisg pnpgpipgpi sgpnpglipg pipgpisgpg
      361 piigpipspa qipgpgrlqg pgpilspgrm rspgslpgla pilgpgsgpg sgsvpapipg
      421 pgslpapapl wpqspdasdf lpdtqlfphf telllpldpl egssvstmts qyqegddsmg
      481 kkhsgsqpqe eggsvnenhs gprllldl
//
LOCUS       NP_001380306             647 aa            linear   PRI 31-DEC-2022
DEFINITION  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4
            isoform 5 [Homo sapiens].
ACCESSION   NP_001380306
VERSION     NP_001380306.1
DBSOURCE    REFSEQ: accession NM_001393377.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 647)
  AUTHORS   Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P, Davies H,
            Jones D, Lin ML, Teague J, Bignell G, Butler A, Cho J, Dalgliesh
            GL, Galappaththige D, Greenman C, Hardy C, Jia M, Latimer C, Lau
            KW, Marshall J, McLaren S, Menzies A, Mudie L, Stebbings L,
            Largaespada DA, Wessels LF, Richard S, Kahnoski RJ, Anema J,
            Tuveson DA, Perez-Mancera PA, Mustonen V, Fischer A, Adams DJ, Rust
            A, Chan-on W, Subimerb C, Dykema K, Furge K, Campbell PJ, Teh BT,
            Stratton MR and Futreal PA.
  TITLE     Exome sequencing identifies frequent mutation of the SWI/SNF
            complex gene PBRM1 in renal carcinoma
  JOURNAL   Nature 469 (7331), 539-542 (2011)
   PUBMED   21248752
  REMARK    Erratum:[Nature. 2012 Apr 5;484(7392):130]
REFERENCE   2  (residues 1 to 647)
  AUTHORS   Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura
            Y and Kamatani N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   3  (residues 1 to 647)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD,
            Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird
            G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson
            T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan
            S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou
            T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore
            N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J,
            Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead
            SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T,
            Doucette-Stamm L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012044.15.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.486159.1,
                                           SRR18074967.2861796.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..647
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     Protein         1..647
                     /product="arf-GAP with GTPase, ANK repeat and PH
                     domain-containing protein 4 isoform 5"
                     /note="ARF GTPase-activating protein; centaurin,
                     gamma-like family, member 1; arf-GAP with GTPase, ANK
                     repeat and PH domain-containing protein 4; centaurin,
                     gamma-like family, member 5; ArfGAP with GTPase domain,
                     ankyrin repeat and PH domain 8; arf-GAP with GTPase, ANK
                     repeat and PH domain-containing protein 8"
                     /calculated_mol_wt=71281
     Region          241..408
                     /region_name="PH_AGAP"
                     /note="Arf-GAP with GTPase, ANK repeat and PH
                     domain-containing protein Pleckstrin homology (PH) domain;
                     cd01250"
                     /db_xref="CDD:241281"
     Region          425..533
                     /region_name="ArfGap_AGAP2"
                     /note="ArfGAP with GTPase domain, ANK repeat and PH domain
                     2; cd08853"
                     /db_xref="CDD:350078"
     Site            order(440,443,460,463,468)
                     /site_type="other"
                     /note="arginine finger"
                     /db_xref="CDD:350078"
     Site            order(440,443,460,463)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:350078"
     Region          552..642
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          552..582
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(553..554,557..559,561..562,566,569,582,584,586,
                     590..591,594..596,598..599,603,606,615,617,619,623..624,
                     627..629,631..632,636,639)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          584..615
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          617..642
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..647
                     /gene="AGAP4"
                     /gene_synonym="AGAP-4; AGAP-8; AGAP8; CTGLF1; CTGLF5;
                     MRIP2"
                     /coded_by="NM_001393377.1:1214..3157"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:119016"
                     /db_xref="HGNC:HGNC:23459"
ORIGIN      
        1 magapmaaav qpaevtvevg edlhmhhvrd rempealefn lsanpeasti fqrnsqtdal
       61 efnpsanpea stifqrnsqt dvveirrsnc tnhvstvrfs qqyslcstif lddstaiqhy
      121 ltmtiisvtl eiphhitqrd adrslsipde qlhsfavstv himkkrnggg slnnysssip
      181 stpstsqedp qfsvpptant ptpvckrsmr wsnlftsekg sdpdkerkap enhadtigsg
      241 raipikqgml lkrsgkwlkt wkkkyvtlcs ngvltyyssl gdymknihkk eidlqtstik
      301 vpgkwpslat sactpistsk snglskdmdt glgdsicfsp sissttspkl npppsphank
      361 kkhlkkkstn nfmivsatgq twhfeattye erdawvqaiq sqilaslqsc essksksqlt
      421 sqskamalqs iqnmrgnahc vdcetqnpkw aslnlgvlmc iecsgihrsl gtrlsrvrsl
      481 elddwpvelr kvmssigndl ansiwegssq gqtkpsekst reekerwirs kyeeklflap
      541 lpctelslgq qllrataded lqtailllah gsreevnetc gegdgctalh lacrkgnvvl
      601 aqlliwygvd vmardahgnt altyarqass qecinvllqy gcpdkcv
//
LOCUS       NP_001384425             181 aa            linear   PRI 31-DEC-2022
DEFINITION  malignant T-cell-amplified sequence 2 [Homo sapiens].
ACCESSION   NP_001384425
VERSION     NP_001384425.1
DBSOURCE    REFSEQ: accession NM_001397496.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 181)
  AUTHORS   Kolarova J, Tangen I, Bens S, Gillessen-Kaesbach G, Gutwein J,
            Kautza M, Rydzanicz M, Stephani U, Siebert R, Ammerpohl O and
            Caliebe A.
  TITLE     Array-based DNA methylation analysis in individuals with
            developmental delay/intellectual disability and normal molecular
            karyotype
  JOURNAL   Eur J Med Genet 58 (8), 419-425 (2015)
   PUBMED   26003415
REFERENCE   2  (residues 1 to 181)
  AUTHORS   Wood AJ, Roberts RG, Monk D, Moore GE, Schulz R and Oakey RJ.
  TITLE     A screen for retrotransposed imprinted genes reveals an association
            between X chromosome homology and maternal germ-line methylation
  JOURNAL   PLoS Genet 3 (2), e20 (2007)
   PUBMED   17291163
REFERENCE   3  (residues 1 to 181)
  AUTHORS   Nandi S, Shi B, Perreault J and Gartenhaus RB.
  TITLE     Characterization of the MCT-1 pseudogene: identification and
            implication of its location in a highly amplified region of
            chromosome 20
  JOURNAL   Biochim Biophys Acta 1759 (5), 234-239 (2006)
   PUBMED   16815567
  REMARK    GeneRIF: A pseudogene for MCT-1 (PsiMCT-1) that is located on
            chromosome 20q11.2 was identified.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL110115.38.
            
            Summary: This locus represents a retrogene copy of MCTS1
            (GeneID:28985) and contains an ORF similar to that parent gene.
            This locus is situated in a differentially methylated region (DMR)
            and transcripts in this region are imprinted. [provided by RefSeq,
            Nov 2021].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript is intronless :: DR003643.1, AL538980.3 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394552.4/ ENSP00000496921.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..181
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     Protein         1..181
                     /product="malignant T-cell-amplified sequence 2"
                     /note="malignant T cell amplified sequence 1 pseudogene;
                     malignant T cell amplified sequence 2, pseudogene; MCTS
                     family member 2, pseudogene"
                     /calculated_mol_wt=20212
     Region          4..80
                     /region_name="MCT1_N"
                     /note="N-terminal domain of multiple copies T cell
                     malignancies 1 and related proteins; cd11609"
                     /db_xref="CDD:211422"
     Site            order(32..33,71,73,77..80)
                     /site_type="other"
                     /note="PUA domain interface [polypeptide binding]"
                     /db_xref="CDD:211422"
     Region          80..175
                     /region_name="PUA_MCTS-1-like"
                     /note="PUA RNA-binding domain of malignant T
                     cell-amplified sequence 1 and related proteins; cd21155"
                     /db_xref="CDD:409297"
     Site            order(98,104,106..108,110..112,161..162,166..169)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:409297"
     CDS             1..181
                     /gene="MCTS2"
                     /gene_synonym="MCTS2P; PSIMCT-1"
                     /coded_by="NM_001397496.1:126..671"
                     /db_xref="CCDS:CCDS93025.1"
                     /db_xref="GeneID:100101490"
                     /db_xref="HGNC:HGNC:49760"
ORIGIN      
        1 mfkkfdekes vsnciqlkts vikgiksqlv eqfpgiepwl nqimpkkdpv kivrchehte
       61 iltvsgellf frqrkgpfcp tlrllhkypf ilphqqvdkg aikfvlsgan imcpgltspg
      121 aklypaavdt ivavtaegkq halcvgvmkm saediekvnk gigienihyl ndglwhmkty
      181 k
//
LOCUS       NP_001382244            1116 aa            linear   PRI 31-DEC-2022
DEFINITION  myomegalin isoform 34 [Homo sapiens].
ACCESSION   NP_001382244
VERSION     NP_001382244.1
DBSOURCE    REFSEQ: accession NM_001395315.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1116)
  AUTHORS   Abou Ziki MD, Bhat N, Neogi A, Driscoll TP, Ugwu N, Liu Y, Smith E,
            Abboud JM, Chouairi S, Schwartz MA, Akar JG and Mani A.
  TITLE     Epistatic interaction of PDE4DIP and DES mutations in familial
            atrial fibrillation with slow conduction
  JOURNAL   Hum Mutat 42 (10), 1279-1293 (2021)
   PUBMED   34289528
  REMARK    GeneRIF: Epistatic interaction of PDE4DIP and DES mutations in
            familial atrial fibrillation with slow conduction.
REFERENCE   2  (residues 1 to 1116)
  AUTHORS   Peng H, Zhang J, Ya A, Ma W, Villa S, Sukenik S and Ge X.
  TITLE     Myomegalin regulates Hedgehog pathway by controlling PDE4D at the
            centrosome
  JOURNAL   Mol Biol Cell 32 (19), 1807-1817 (2021)
   PUBMED   34260267
  REMARK    GeneRIF: Myomegalin regulates Hedgehog pathway by controlling PDE4D
            at the centrosome.
REFERENCE   3  (residues 1 to 1116)
  AUTHORS   Potashkin JA, Bottero V, Santiago JA and Quinn JP.
  TITLE     Bioinformatic Analysis Reveals Phosphodiesterase 4D-Interacting
            Protein as a Key Frontal Cortex Dementia Switch Gene
  JOURNAL   Int J Mol Sci 21 (11), 3787 (2020)
   PUBMED   32471155
  REMARK    GeneRIF: Bioinformatic Analysis Reveals Phosphodiesterase
            4D-Interacting Protein as a Key Frontal Cortex Dementia Switch
            Gene.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1116)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1116)
  AUTHORS   Sugis E, Dauvillier J, Leontjeva A, Adler P, Hindie V, Moncion T,
            Collura V, Daudin R, Loe-Mie Y, Herault Y, Lambert JC, Hermjakob H,
            Pupko T, Rain JC, Xenarios I, Vilo J, Simonneau M and Peterson H.
  TITLE     HENA, heterogeneous network-based data set for Alzheimer's disease
  JOURNAL   Sci Data 6 (1), 151 (2019)
   PUBMED   31413325
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1116)
  AUTHORS   Shimada H, Kuboshima M, Shiratori T, Nabeya Y, Takeuchi A, Takagi
            H, Nomura F, Takiguchi M, Ochiai T and Hiwasa T.
  TITLE     Serum anti-myomegalin antibodies in patients with esophageal
            squamous cell carcinoma
  JOURNAL   Int J Oncol 30 (1), 97-103 (2007)
   PUBMED   17143517
  REMARK    GeneRIF: MMGL-antibody is significantly with a favorable prognosis.
            Consequently, MMGL-anatibodies may be a useful tumor marker to
            diagnose and establish a prognosis in patients with esophageal
            squamous cell carcinoma.
REFERENCE   7  (residues 1 to 1116)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   8  (residues 1 to 1116)
  AUTHORS   Soejima H, Kawamoto S, Akai J, Miyoshi O, Arai Y, Morohka T, Matsuo
            S, Niikawa N, Kimura A, Okubo K and Mukai T.
  TITLE     Isolation of novel heart-specific genes using the BodyMap database
  JOURNAL   Genomics 74 (1), 115-120 (2001)
   PUBMED   11374908
REFERENCE   9  (residues 1 to 1116)
  AUTHORS   Verde I, Pahlke G, Salanova M, Zhang G, Wang S, Coletti D, Onuffer
            J, Jin SL and Conti M.
  TITLE     Myomegalin is a novel protein of the golgi/centrosome that
            interacts with a cyclic nucleotide phosphodiesterase
  JOURNAL   J Biol Chem 276 (14), 11189-11198 (2001)
   PUBMED   11134006
REFERENCE   10 (residues 1 to 1116)
  AUTHORS   Lanfranchi,G., Muraro,T., Caldara,F., Pacchioni,B., Pallavicini,A.,
            Pandolfo,D., Toppo,S., Trevisan,S., Scarso,S. and Valle,G.
  TITLE     Identification of 4370 expressed sequence tags from a
            3'-end-specific cDNA library of human skeletal muscle by DNA
            sequencing and filter hybridization
  JOURNAL   Genome Res 6 (1), 35-42 (1996)
   PUBMED   8681137
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC239802.3.
            
            Summary: The protein encoded by this gene serves to anchor
            phosphodiesterase 4D to the Golgi/centrosome region of the cell.
            Defects in this gene may be a cause of myeloproliferative disorder
            (MBD) associated with eosinophilia. Several transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Aug 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HQ333476.1, SRR1660805.75320.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1116
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     Protein         1..1116
                     /product="myomegalin isoform 34"
                     /note="myomegalin; cardiomyopathy-associated protein 2"
                     /calculated_mol_wt=126820
     Region          1..376
                     /region_name="SMYLE_N"
                     /note="Short myomegalin-like EB1 binding proteins,
                     N-terminal domain; pfam18615"
                     /db_xref="CDD:436622"
     Region          453..>1095
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..1116
                     /gene="PDE4DIP"
                     /gene_synonym="CMYA2; MMGL"
                     /coded_by="NM_001395315.1:408..3758"
                     /note="isoform 34 is encoded by transcript variant 34"
                     /db_xref="CCDS:CCDS91045.1"
                     /db_xref="GeneID:9659"
                     /db_xref="HGNC:HGNC:15580"
                     /db_xref="MIM:608117"
ORIGIN      
        1 mkeicricar elcgnqrrwi fhtasklnlq vllshvlgkd vprdgkaefa cskcafmldr
       61 iyrfdtviar iealsierlq klllekdrlk fciasmyrkn nddsgaeika gngtvdmsvl
      121 pdarysallq edfaysgfec wvenedqiqe phschgsegp gnrprrcrgc aalrvadsdy
      181 eaickvprkv arsiscgpss rwstsictee palsevgppd lastkvppdg esmeeetpgs
      241 svesldasvq asppqqkdee tersakelgk cdccsddqap qhgcnhklel alsmikgldy
      301 kpiqsprgsr lpipvksslp gakpgpsmtd gvssgflnrs lkplyktpvs yplelsdlqe
      361 lwddlcedyl plrvqpmtee llkqqklnsh ettitqqsvs dshlaelqek iqqteatnki
      421 lqeklnemsy elkcaqessq kqdgtiqnlk etlksreret eelyqviegq ndtmaklrem
      481 lhqsqlgqlh ssegtspaqq qvalldlqsa lfcsqleiqk lqrvvrqker qladakqcvq
      541 fveaaahese qqkeaswkhn qelrkalqql qeelqnksqq lraweaekyn eirtqeqniq
      601 hlnhslshke qllqefrell qyrdnsdktl eanemllekl rqrihdkava leraidekfs
      661 aleekekelr qlrlavrerd hdlerlrdvl ssneatmqsm esllrakgle veqlsttcqn
      721 lqwlkeemet kfsrwqkeqe siiqqlqtsl hdrnkevedl satllcklgp gqseiaeelc
      781 qrlqrkerml qdllsdrnkq vlehemeiqg llqsvstreq esqaaaeklv qalmernsel
      841 qalrqylggr dslmsqapis nqqaevtptg rlgkqtdqgs mqipsrddst sltakedvsi
      901 prstlgdldt vaglekelsn akeelelmak keresqmels alqsmmavqe eelqvqaadm
      961 esltrniqik edlikdlqmq lvdpedipam erltqevlll rekvasvesq gqeisgnrrq
     1021 qlllmleglv dersrlneal qaerqlyssl vkfhahpess erdrtlqvel egaqvlrsrl
     1081 eevlgrsler lnrletlaai gggelesvri hhkhay
//
LOCUS       NP_001006641             159 aa            linear   PRI 27-JAN-2023
DEFINITION  transcription elongation factor A protein-like 1 [Homo sapiens].
ACCESSION   NP_001006641
VERSION     NP_001006641.1
DBSOURCE    REFSEQ: accession NM_001006640.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 159)
  AUTHORS   Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson
            E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E,
            Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van
            Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R,
            Rydzanicz M, Kepczynski L, Polatynska K, Li Y, Fatih JM, Marafi D,
            Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter
            JV, Carvalho CMB, Posey JE, Semina EV and Lupski JR.
  TITLE     TCEAL1 loss-of-function results in an X-linked dominant
            neurodevelopmental syndrome and drives the neurological disease
            trait in Xq22.2 deletions
  JOURNAL   Am J Hum Genet 109 (12), 2270-2282 (2022)
   PUBMED   36368327
  REMARK    GeneRIF: TCEAL1 loss-of-function results in an X-linked dominant
            neurodevelopmental syndrome and drives the neurological disease
            trait in Xq22.2 deletions.
REFERENCE   2  (residues 1 to 159)
  AUTHORS   Rushworth LK, Harle V, Repiscak P, Clark W, Shaw R, Hall H, Bushell
            M, Leung HY and Patel R.
  TITLE     In vivo CRISPR/Cas9 knockout screen: TCEAL1 silencing enhances
            docetaxel efficacy in prostate cancer
  JOURNAL   Life Sci Alliance 3 (12), e202000770 (2020)
   PUBMED   33033111
  REMARK    GeneRIF: In vivo CRISPR/Cas9 knockout screen: TCEAL1 silencing
            enhances docetaxel efficacy in prostate cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 159)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 159)
  AUTHORS   Kizildag S, Ates H and Kizildag S.
  TITLE     Treatment of K562 cells with 1,25-dihydroxyvitamin D3 induces
            distinct alterations in the expression of apoptosis-related genes
            BCL2, BAX, BCLXL, and p21
  JOURNAL   Ann Hematol 89 (1), 1-7 (2010)
   PUBMED   19475409
  REMARK    GeneRIF: Treatment with active matabolite of vitamin D
            (1alpha,25-dihydroxyvitamin D3) up-regulates mRNA expression of
            p21.
REFERENCE   5  (residues 1 to 159)
  AUTHORS   Chung CJ, Huang CJ, Pu YS, Su CT, Huang YK, Chen YT and Hsueh YM.
  TITLE     Polymorphisms in cell cycle regulatory genes, urinary arsenic
            profile and urothelial carcinoma
  JOURNAL   Toxicol Appl Pharmacol 232 (2), 203-209 (2008)
   PUBMED   18640142
  REMARK    GeneRIF: Observational study of gene-disease association, gene-gene
            interaction, and gene-environment interaction. (HuGE Navigator)
REFERENCE   6  (residues 1 to 159)
  AUTHORS   van der Kuip H, Carius B, Haque SJ, Williams BR, Huber C and
            Fischer T.
  TITLE     The DNA-binding subunit p140 of replication factor C is upregulated
            in cycling cells and associates with G1 phase cell cycle regulatory
            proteins
  JOURNAL   J Mol Med (Berl) 77 (4), 386-392 (1999)
   PUBMED   10353443
REFERENCE   7  (residues 1 to 159)
  AUTHORS   Pillutla RC, Shimamoto A, Furuichi Y and Shatkin AJ.
  TITLE     Genomic structure and chromosomal localization of TCEAL1, a human
            gene encoding the nuclear phosphoprotein p21/SIIR
  JOURNAL   Genomics 56 (2), 217-220 (1999)
   PUBMED   10051408
REFERENCE   8  (residues 1 to 159)
  AUTHORS   Yeh CH, Zong WX and Shatkin AJ.
  TITLE     The Ser36-Ser37 pair in HeLa nuclear protein p21/SIIR mediates
            Ser/Thr phosphorylation and is essential for Rous sarcoma virus
            long terminal repeat repression
  JOURNAL   J Biol Chem 270 (43), 25313-25315 (1995)
   PUBMED   7592688
REFERENCE   9  (residues 1 to 159)
  AUTHORS   Yeh CH and Shatkin AJ.
  TITLE     Down-regulation of Rous sarcoma virus long terminal repeat promoter
            activity by a HeLa cell basic protein
  JOURNAL   Proc Natl Acad Sci U S A 91 (23), 11002-11006 (1994)
   PUBMED   7971997
REFERENCE   10 (residues 1 to 159)
  AUTHORS   Yeh CH and Shatkin AJ.
  TITLE     A HeLa-cell-encoded p21 is homologous to transcription elongation
            factor SII
  JOURNAL   Gene 143 (2), 285-287 (1994)
   PUBMED   8206389
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049610.9, BU602495.1,
            BX092470.1 and BC000809.1.
            
            Summary: This gene encodes a member of the transcription elongation
            factor A (SII)-like (TCEAL) gene family. Members of this family may
            function as nuclear phosphoproteins that modulate transcription in
            a promoter context-dependent manner. The encoded protein is similar
            to transcription elongation factor A/transcription factor SII and
            contains a zinc finger-like motif as well as a sequence related to
            the transcription factor SII Pol II-binding region. It may exert
            its effects via protein-protein interactions with other
            transcriptional regulators rather than via direct binding of DNA.
            Multiple family members are located on the X chromosome.
            Alternative splicing results in multiple transcript variants
            encoding a single isoform. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1 through 3 encode the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.611440.1,
                                           SRR1163655.13038.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..159
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.2"
     Protein         1..159
                     /product="transcription elongation factor A protein-like
                     1"
                     /note="TCEA-like protein 1; nuclear phosphoprotein
                     p21/SIIR; transcription elongation factor S-II
                     protein-like 1; transcription elongation factor A
                     (SII)-like 1"
                     /calculated_mol_wt=18510
     Region          1..97
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15170.3)"
     Site            28
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q15170.3)"
     Site            33
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:7592688; propagated from
                     UniProtKB/Swiss-Prot (Q15170.3)"
     Site            38
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:7592688; propagated from
                     UniProtKB/Swiss-Prot (Q15170.3)"
     Site            39
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:7592688; propagated from
                     UniProtKB/Swiss-Prot (Q15170.3)"
     Site            43
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:7592688; propagated from
                     UniProtKB/Swiss-Prot (Q15170.3)"
     Site            44
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:7592688; propagated from
                     UniProtKB/Swiss-Prot (Q15170.3)"
     Region          <87..159
                     /region_name="BEX"
                     /note="Brain expressed X-linked like family; pfam04538"
                     /db_xref="CDD:427996"
     CDS             1..159
                     /gene="TCEAL1"
                     /gene_synonym="NEDGFAX; p21; pp21; SIIR; WEX9"
                     /coded_by="NM_001006640.2:179..658"
                     /db_xref="CCDS:CCDS35358.1"
                     /db_xref="GeneID:9338"
                     /db_xref="HGNC:HGNC:11616"
                     /db_xref="MIM:300237"
ORIGIN      
        1 mdkprkenee epqsapktde erppvehspe kqspeeqsse eqsseeeffp eellpellpe
       61 mllseerppq eglsrkdlfe grppmeqppc gvgkhkleeg sfkerlarsr pqfrgdihgr
      121 nlsneemiqa adeleemkrv rnklmimhwk akrsrpypi
//
LOCUS       NP_001374403             364 aa            linear   PRI 29-JAN-2023
DEFINITION  lysophosphatidic acid receptor 1 isoform a [Homo sapiens].
ACCESSION   NP_001374403
VERSION     NP_001374403.1
DBSOURCE    REFSEQ: accession NM_001387474.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 364)
  AUTHORS   Doutt SW, Longo JF and Carroll SL.
  TITLE     LPAR1 and aberrantly expressed LPAR3 differentially promote the
            migration and proliferation of malignant peripheral nerve sheath
            tumor cells
  JOURNAL   Glia 71 (3), 742-757 (2023)
   PUBMED   36416236
  REMARK    GeneRIF: LPAR1 and aberrantly expressed LPAR3 differentially
            promote the migration and proliferation of malignant peripheral
            nerve sheath tumor cells.
REFERENCE   2  (residues 1 to 364)
  AUTHORS   Ahmadzai MM, McClain JL, Dharshika C, Seguella L, Giancola F, De
            Giorgio R and Gulbransen BD.
  TITLE     LPAR1 regulates enteric nervous system function through glial
            signaling and contributes to chronic intestinal pseudo-obstruction
  JOURNAL   J Clin Invest 132 (4) (2022)
   PUBMED   35166239
  REMARK    GeneRIF: LPAR1 regulates enteric nervous system function through
            glial signaling and contributes to chronic intestinal
            pseudo-obstruction.
REFERENCE   3  (residues 1 to 364)
  AUTHORS   Liu S, Paknejad N, Zhu L, Kihara Y, Ray M, Chun J, Liu W, Hite RK
            and Huang XY.
  TITLE     Differential activation mechanisms of lipid GPCRs by
            lysophosphatidic acid and sphingosine 1-phosphate
  JOURNAL   Nat Commun 13 (1), 731 (2022)
   PUBMED   35136060
  REMARK    GeneRIF: Differential activation mechanisms of lipid GPCRs by
            lysophosphatidic acid and sphingosine 1-phosphate.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 364)
  AUTHORS   Wang H, Feng Z, Han X, Xing Y and Zhang X.
  TITLE     Downregulation of acylglycerol kinase suppresses
            high-glucose-induced endothelial-mesenchymal transition in human
            retinal microvascular endothelial cells through regulating the
            LPAR1/TGF-beta/Notch signaling pathway
  JOURNAL   Can J Physiol Pharmacol 100 (2), 142-150 (2022)
   PUBMED   34559978
  REMARK    GeneRIF: Downregulation of acylglycerol kinase suppresses
            high-glucose-induced endothelial-mesenchymal transition in human
            retinal microvascular endothelial cells through regulating the
            LPAR1/TGF-beta/Notch signaling pathway.
REFERENCE   5  (residues 1 to 364)
  AUTHORS   Liu J, Rebecca VW, Kossenkov AV, Connelly T, Liu Q, Gutierrez A,
            Xiao M, Li L, Zhang G, Samarkina A, Zayasbazan D, Zhang J, Cheng C,
            Wei Z, Alicea GM, Fukunaga-Kalabis M, Krepler C, Aza-Blanc P, Yang
            CC, Delvadia B, Tong C, Huang Y, Delvadia M, Morias AS, Sproesser
            K, Brafford P, Wang JX, Beqiri M, Somasundaram R, Vultur A,
            Hristova DM, Wu LW, Lu Y, Mills GB, Xu W, Karakousis GC, Xu X,
            Schuchter LM, Mitchell TC, Amaravadi RK, Kwong LN, Frederick DT,
            Boland GM, Salvino JM, Speicher DW, Flaherty KT, Ronai ZA and
            Herlyn M.
  TITLE     Neural Crest-Like Stem Cell Transcriptome Analysis Identifies LPAR1
            in Melanoma Progression and Therapy Resistance
  JOURNAL   Cancer Res 81 (20), 5230-5241 (2021)
   PUBMED   34462276
  REMARK    GeneRIF: Neural Crest-Like Stem Cell Transcriptome Analysis
            Identifies LPAR1 in Melanoma Progression and Therapy Resistance.
REFERENCE   6  (residues 1 to 364)
  AUTHORS   An S, Bleu T, Zheng Y and Goetzl EJ.
  TITLE     Recombinant human G protein-coupled lysophosphatidic acid receptors
            mediate intracellular calcium mobilization
  JOURNAL   Mol Pharmacol 54 (5), 881-888 (1998)
   PUBMED   9804623
REFERENCE   7  (residues 1 to 364)
  AUTHORS   Fukushima N, Kimura Y and Chun J.
  TITLE     A single receptor encoded by vzg-1/lpA1/edg-2 couples to G proteins
            and mediates multiple cellular responses to lysophosphatidic acid
  JOURNAL   Proc Natl Acad Sci U S A 95 (11), 6151-6156 (1998)
   PUBMED   9600933
REFERENCE   8  (residues 1 to 364)
  AUTHORS   Moolenaar WH, Kranenburg O, Postma FR and Zondag GC.
  TITLE     Lysophosphatidic acid: G-protein signalling and cellular responses
  JOURNAL   Curr Opin Cell Biol 9 (2), 168-173 (1997)
   PUBMED   9069262
REFERENCE   9  (residues 1 to 364)
  AUTHORS   An S, Dickens MA, Bleu T, Hallmark OG and Goetzl EJ.
  TITLE     Molecular cloning of the human Edg2 protein and its identification
            as a functional cellular receptor for lysophosphatidic acid
  JOURNAL   Biochem Biophys Res Commun 231 (3), 619-622 (1997)
   PUBMED   9070858
REFERENCE   10 (residues 1 to 364)
  AUTHORS   Hecht JH, Weiner JA, Post SR and Chun J.
  TITLE     Ventricular zone gene-1 (vzg-1) encodes a lysophosphatidic acid
            receptor expressed in neurogenic regions of the developing cerebral
            cortex
  JOURNAL   J Cell Biol 135 (4), 1071-1083 (1996)
   PUBMED   8922387
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007157.6, AL442064.10 and
            AL157881.14.
            
            Summary: The integral membrane protein encoded by this gene is a
            lysophosphatidic acid (LPA) receptor from a group known as EDG
            receptors. These receptors are members of the G protein-coupled
            receptor superfamily. Utilized by LPA for cell signaling, EDG
            receptors mediate diverse biologic functions, including
            proliferation, platelet aggregation, smooth muscle contraction,
            inhibition of neuroblastoma cell differentiation, chemotaxis, and
            tumor cell invasion. Many transcript variants encoding a few
            different isoforms have been identified for this gene. [provided by
            RefSeq, Oct 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803613.205650.1, ERR4352442.445967.1
                                    [ECO:0000331]
            RNAseq introns       :: partial sample support SAMEA2467144,
                                    SAMEA2467146 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..364
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.3"
     Protein         1..364
                     /product="lysophosphatidic acid receptor 1 isoform a"
                     /note="endothelial differentiation, lysophosphatidic acid
                     G-protein-coupled receptor, 2; ventricular zone gene 1;
                     LPA-1; LPA receptor 1; lysophosphatidic acid receptor
                     Edg-2"
                     /calculated_mol_wt=40978
     Site            27
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92633.3)"
     Site            35
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92633.3)"
     Region          50..322
                     /region_name="7tmA_LPAR1_Edg2"
                     /note="lysophosphatidic acid receptor subtype 1 (LPAR1 or
                     LPA1), also called endothelial differentiation gene 2
                     (Edg2), member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15344"
                     /db_xref="CDD:341348"
     Region          51..77
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:341348"
     Site            51..75
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92633.3)"
     Site            order(52,102,109,113,124..125,128..129,132,198,207,210,
                     271,274,277..278,293..294,296..297)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:341348"
     Region          84..109
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:341348"
     Site            84..107
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92633.3)"
     Region          121..151
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:341348"
     Site            122..144
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92633.3)"
     Region          162..182
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:341348"
     Site            164..184
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92633.3)"
     Region          202..231
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:341348"
     Site            205..225
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92633.3)"
     Region          251..281
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:341348"
     Site            256..280
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92633.3)"
     Region          290..315
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:341348"
     Site            295..315
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92633.3)"
     Site            341
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92633.3)"
     Site            351
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P61793; propagated from
                     UniProtKB/Swiss-Prot (Q92633.3)"
     CDS             1..364
                     /gene="LPAR1"
                     /gene_synonym="edg-2; EDG2; Gpcr26; LPA1; Mrec1.3;
                     rec.1.3; vzg-1; VZG1"
                     /coded_by="NM_001387474.1:529..1623"
                     /note="isoform a is encoded by transcript variant 31"
                     /db_xref="CCDS:CCDS6777.1"
                     /db_xref="GeneID:1902"
                     /db_xref="HGNC:HGNC:3166"
                     /db_xref="MIM:602282"
ORIGIN      
        1 maaistsipv isqpqftamn epqcfynesi affynrsgkh latewntvsk lvmglgitvc
       61 ifimlanllv mvaiyvnrrf hfpiyylman laaadffagl ayfylmfntg pntrrltvst
      121 wllrqglidt sltasvanll aiaierhitv frmqlhtrms nrrvvvvivv iwtmaivmga
      181 ipsvgwncic diencsnmap lysdsylvfw aifnlvtfvv mvvlyahifg yvrqrtmrms
      241 rhssgprrnr dtmmsllktv vivlgafiic wtpglvllll dvccpqcdvl ayekffllla
      301 efnsamnpii ysyrdkemsa tfrqilccqr senptgpteg sdrsasslnh tilagvhsnd
      361 hsvv
//
LOCUS       NP_001138384             623 aa            linear   PRI 07-FEB-2023
DEFINITION  ubiquitin-like modifier-activating enzyme ATG7 isoform c [Homo
            sapiens].
ACCESSION   NP_001138384
VERSION     NP_001138384.1
DBSOURCE    REFSEQ: accession NM_001144912.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 623)
  AUTHORS   Huang J, Sun M, Tao Y, Ren J, Peng M, Jing Y, Xiao Q, Yang J, Lin
            C, Lei L, Yang Z and Zhang L.
  TITLE     Cytoplasmic Expression of TP53INP2 Modulated by Demethylase FTO and
            Mutant NPM1 Promotes Autophagy in Leukemia Cells
  JOURNAL   Int J Mol Sci 24 (2), 1624 (2023)
   PUBMED   36675134
  REMARK    GeneRIF: Cytoplasmic Expression of TP53INP2 Modulated by
            Demethylase FTO and Mutant NPM1 Promotes Autophagy in Leukemia
            Cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 623)
  AUTHORS   Barrientos-Riosalido A, Real M, Bertran L, Aguilar C, Martinez S,
            Parada D, Vives M, Sabench F, Riesco D, Castillo DD, Richart C and
            Auguet T.
  TITLE     Increased Hepatic ATG7 mRNA and ATG7 Protein Expression in
            Nonalcoholic Steatohepatitis Associated with Obesity
  JOURNAL   Int J Mol Sci 24 (2), 1324 (2023)
   PUBMED   36674839
  REMARK    GeneRIF: Increased Hepatic ATG7 mRNA and ATG7 Protein Expression in
            Nonalcoholic Steatohepatitis Associated with Obesity.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 623)
  AUTHORS   Jiang R, He S, Gong H, Wang Y, Wei W, Chen J, Hu J, Ye C, LiuHuang
            S, Jin S, Wei H, Xu W and Xiao J.
  TITLE     Identification of ATG7 as a Regulator of Proferroptosis and
            Oxidative Stress in Osteosarcoma
  JOURNAL   Oxid Med Cell Longev 2022, 8441676 (2022)
   PUBMED   36254233
  REMARK    GeneRIF: Identification of ATG7 as a Regulator of Proferroptosis
            and Oxidative Stress in Osteosarcoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 623)
  AUTHORS   Sarosh M, Nurulain SM, Shah STA, Jadoon Khan M, Muneer Z, Bibi N,
            Shah SFA and Hussain S.
  TITLE     Association analysis of single nucleotide polymorphisms in
            autophagy related 7 (ATG7) gene in patients with coronary artery
            disease
  JOURNAL   Medicine (Baltimore) 101 (26), e29776 (2022)
   PUBMED   35777002
  REMARK    GeneRIF: Association analysis of single nucleotide polymorphisms in
            autophagy related 7 (ATG7) gene in patients with coronary artery
            disease.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 623)
  AUTHORS   Greer SU, Chen J, Ogmundsdottir MH, Ayala C, Lau BT, Delacruz RGC,
            Sandoval IT, Kristjansdottir S, Jones DA, Haslem DS, Romero R,
            Fulde G, Bell JM, Jonasson JG, Steingrimsson E, Ji HP and Nadauld
            LD.
  TITLE     Germline variants of ATG7 in familial cholangiocarcinoma alter
            autophagy and p62
  JOURNAL   Sci Rep 12 (1), 10333 (2022)
   PUBMED   35725745
  REMARK    GeneRIF: Germline variants of ATG7 in familial cholangiocarcinoma
            alter autophagy and p62.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 623)
  AUTHORS   Nemoto T, Tanida I, Tanida-Miyake E, Minematsu-Ikeguchi N, Yokota
            M, Ohsumi M, Ueno T and Kominami E.
  TITLE     The mouse APG10 homologue, an E2-like enzyme for Apg12p
            conjugation, facilitates MAP-LC3 modification
  JOURNAL   J Biol Chem 278 (41), 39517-39526 (2003)
   PUBMED   12890687
REFERENCE   7  (residues 1 to 623)
  AUTHORS   Tanida I, Tanida-Miyake E, Komatsu M, Ueno T and Kominami E.
  TITLE     Human Apg3p/Aut1p homologue is an authentic E2 enzyme for multiple
            substrates, GATE-16, GABARAP, and MAP-LC3, and facilitates the
            conjugation of hApg12p to hApg5p
  JOURNAL   J Biol Chem 277 (16), 13739-13744 (2002)
   PUBMED   11825910
REFERENCE   8  (residues 1 to 623)
  AUTHORS   Tanida I, Tanida-Miyake E, Nishitani T, Komatsu M, Yamazaki H, Ueno
            T and Kominami E.
  TITLE     Murine Apg12p has a substrate preference for murine Apg7p over
            three Apg8p homologs
  JOURNAL   Biochem Biophys Res Commun 292 (1), 256-262 (2002)
   PUBMED   11890701
REFERENCE   9  (residues 1 to 623)
  AUTHORS   Tanida I, Tanida-Miyake E, Ueno T and Kominami E.
  TITLE     The human homolog of Saccharomyces cerevisiae Apg7p is a
            Protein-activating enzyme for multiple substrates including human
            Apg12p, GATE-16, GABARAP, and MAP-LC3
  JOURNAL   J Biol Chem 276 (3), 1701-1706 (2001)
   PUBMED   11096062
REFERENCE   10 (residues 1 to 623)
  AUTHORS   Yuan W, Stromhaug PE and Dunn WA Jr.
  TITLE     Glucose-induced autophagy of peroxisomes in Pichia pastoris
            requires a unique E1-like protein
  JOURNAL   Mol Biol Cell 10 (5), 1353-1366 (1999)
   PUBMED   10233149
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA177126.1, BC000091.2,
            AK303694.1, AL122075.1 and AC022001.5.
            
            Summary: This gene encodes an E1-like activating enzyme that is
            essential for autophagy and cytoplasmic to vacuole transport. The
            encoded protein is also thought to modulate p53-dependent cell
            cycle pathways during prolonged metabolic stress. It has been
            associated with multiple functions, including axon membrane
            trafficking, axonal homeostasis, mitophagy, adipose
            differentiation, and hematopoietic stem cell maintenance.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2015].
            
            Transcript Variant: This variant (3) encodes isoform c.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK303694.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..623
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     Protein         1..623
                     /product="ubiquitin-like modifier-activating enzyme ATG7
                     isoform c"
                     /note="ubiquitin-like modifier-activating enzyme ATG7;
                     ATG12-activating enzyme E1 ATG7; hAGP7;
                     ubiquitin-activating enzyme E1-like protein; APG7
                     autophagy 7-like"
                     /calculated_mol_wt=68487
     Region          15..614
                     /region_name="E1_like_apg7"
                     /note="E1-like protein-activating enzyme Gsa7p/Apg7p;
                     TIGR01381"
                     /db_xref="CDD:273590"
     CDS             1..623
                     /gene="ATG7"
                     /gene_synonym="APG7-LIKE; APG7L; GSA7; SCAR31"
                     /coded_by="NM_001144912.2:45..1916"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS46753.1"
                     /db_xref="GeneID:10533"
                     /db_xref="HGNC:HGNC:16935"
                     /db_xref="MIM:608760"
ORIGIN      
        1 maaatgdpgl sklqfapfss aldvgfwhel tqkklneyrl deapkdikgy yyngdsaglp
       61 arltlefsaf dmsaptparc cpaigtlynt ntlesfktad kkllleqaan eiwesiksgt
      121 alenpvllnk fllltfaiea lecaydnlcq tegvtalpyf likydenmvl vsllkhysdf
      181 fqgqrtkiti gvydpcnlaq ypgwplrnfl vlaahrwsss fqsvevvcfr drtmqgardv
      241 ahsiifevkl pemafspdcp kavgweknqk ggmgprmvnl secmdpkrla essvdlnlkl
      301 mcwrlvptld ldkvvsvkcl llgagtlgcn vartlmgwgv rhitfvdnak isysnpvrqp
      361 lyefedclgg gkpkalaaad rlqkifpgvn argfnmsipm pghpvnfssv tleqarrdve
      421 qleqlieshd vvfllmdtre srwlpaviaa skrklvinaa lgfdtfvvmr hglkkpkqqg
      481 agdlcpnhpv asadllgssl fanipgyklg cyfcndvvap gdstrdrtld qqctvsrpgl
      541 aviagalave lmvsvlqhpe ggyaiasssd drmnepptsl glvphqirgf lsrfdnvlpv
      601 slafdkctac sskiwdmsdd eti
//
LOCUS       NP_001308299             168 aa            linear   PRI 14-MAR-2023
DEFINITION  CD99 antigen isoform f precursor [Homo sapiens].
ACCESSION   NP_001308299
VERSION     NP_001308299.1
DBSOURCE    REFSEQ: accession NM_001321370.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 168)
  AUTHORS   Wong YL, Okubo T, Uno E, Suda K and Ishii T.
  TITLE     Role of CD99 in regulating homeostasis and differentiation in
            normal human epidermal keratinocytes
  JOURNAL   Biochem Biophys Res Commun 606, 108-113 (2022)
   PUBMED   35339749
  REMARK    GeneRIF: Role of CD99 in regulating homeostasis and differentiation
            in normal human epidermal keratinocytes.
REFERENCE   2  (residues 1 to 168)
  AUTHORS   Ali A, Vaikari VP and Alachkar H.
  TITLE     CD99 in malignant hematopoiesis
  JOURNAL   Exp Hematol 106, 40-46 (2022)
   PUBMED   34920053
  REMARK    GeneRIF: CD99 in malignant hematopoiesis.
            Review article
REFERENCE   3  (residues 1 to 168)
  AUTHORS   Siwy J, Wendt R, Albalat A, He T, Mischak H, Mullen W, Latosinska
            A, Lubbert C, Kalbitz S, Mebazaa A, Peters B, Stegmayr B, Spasovski
            G, Wiech T, Staessen JA, Wolf J and Beige J.
  TITLE     CD99 and polymeric immunoglobulin receptor peptides deregulation in
            critical COVID-19: A potential link to molecular pathophysiology?
  JOURNAL   Proteomics 21 (20), e2100133 (2021)
   PUBMED   34383378
  REMARK    GeneRIF: CD99 and polymeric immunoglobulin receptor peptides
            deregulation in critical COVID-19: A potential link to molecular
            pathophysiology?
REFERENCE   4  (residues 1 to 168)
  AUTHORS   Mannion AJ, Odell AF, Taylor A, Jones PF and Cook GP.
  TITLE     Tumour cell CD99 regulates transendothelial migration via CDC42 and
            actin remodelling
  JOURNAL   J Cell Sci 134 (15) (2021)
   PUBMED   34374417
  REMARK    GeneRIF: Tumour cell CD99 regulates transendothelial migration via
            CDC42 and actin remodelling.
REFERENCE   5  (residues 1 to 168)
  AUTHORS   Hahn JH, Kim MK, Choi EY, Kim SH, Sohn HW, Ham DI, Chung DH, Kim
            TJ, Lee WJ, Park CK, Ree HJ and Park SH.
  TITLE     CD99 (MIC2) regulates the LFA-1/ICAM-1-mediated adhesion of
            lymphocytes, and its gene encodes both positive and negative
            regulators of cellular adhesion
  JOURNAL   J Immunol 159 (5), 2250-2258 (1997)
   PUBMED   9278313
REFERENCE   6  (residues 1 to 168)
  AUTHORS   Kovar H, Dworzak M, Strehl S, Schnell E, Ambros IM, Ambros PF and
            Gadner H.
  TITLE     Overexpression of the pseudoautosomal gene MIC2 in Ewing's sarcoma
            and peripheral primitive neuroectodermal tumor
  JOURNAL   Oncogene 5 (7), 1067-1070 (1990)
   PUBMED   1695726
REFERENCE   7  (residues 1 to 168)
  AUTHORS   Gelin C, Aubrit F, Phalipon A, Raynal B, Cole S, Kaczorek M and
            Bernard A.
  TITLE     The E2 antigen, a 32 kd glycoprotein involved in T-cell adhesion
            processes, is the MIC2 gene product
  JOURNAL   EMBO J 8 (11), 3253-3259 (1989)
   PUBMED   2479542
REFERENCE   8  (residues 1 to 168)
  AUTHORS   Banting GS, Pym B, Darling SM and Goodfellow PN.
  TITLE     The MIC2 gene product: epitope mapping and structural prediction
            analysis define an integral membrane protein
  JOURNAL   Mol Immunol 26 (2), 181-188 (1989)
   PUBMED   2465491
REFERENCE   9  (residues 1 to 168)
  AUTHORS   Goodfellow PJ, Mondello C, Darling SM, Pym B, Little P and
            Goodfellow PN.
  TITLE     Absence of methylation of a CpG-rich region at the 5' end of the
            MIC2 gene on the active X, the inactive X, and the Y chromosome
  JOURNAL   Proc Natl Acad Sci U S A 85 (15), 5605-5609 (1988)
   PUBMED   2456574
REFERENCE   10 (residues 1 to 168)
  AUTHORS   Goodfellow,P.J., Darling,S.M., Thomas,N.S. and Goodfellow,P.N.
  TITLE     A pseudoautosomal gene in man
  JOURNAL   Science 234 (4777), 740-743 (1986)
   PUBMED   2877492
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006209.25.
            
            Summary: The protein encoded by this gene is a cell surface
            glycoprotein involved in leukocyte migration, T-cell adhesion,
            ganglioside GM1 and transmembrane protein transport, and T-cell
            death by a caspase-independent pathway. In addition, the encoded
            protein may have the ability to rearrange the actin cytoskeleton
            and may also act as an oncosuppressor in osteosarcoma. This gene is
            found in the pseudoautosomal region of chromosomes X and Y and
            escapes X-chromosome inactivation. There is a related pseudogene
            located immediately adjacent to this locus. [provided by RefSeq,
            Mar 2016].
            
            Transcript Variant: This variant (7) encodes an isoform (f) of the
            same length but different sequence than the isoform (e) encoded by
            variant 6.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2162823,
                              SAMEA2163105 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..168
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /chromosome="Y"
                     /map="X"
                     /map="Y"
     Protein         1..168
                     /product="CD99 antigen isoform f precursor"
                     /note="MIC2 (monoclonal antibody 12E7); antigen identified
                     by monoclonal antibodies 12E7, F21 and O13; CD99 antigen;
                     surface antigen MIC2; E2 antigen; T-cell surface
                     glycoprotein E2; antigen identified by monoclonal 12E7, Y
                     homolog; cell surface antigen 12E7; cell surface antigen
                     HBA-71; cell surface antigen O13"
                     /calculated_mol_wt=15271
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1970
     Region          26..162
                     /region_name="CD99L2"
                     /note="CD99 antigen like protein 2; pfam12301"
                     /db_xref="CDD:432463"
     CDS             1..168
                     /gene="CD99"
                     /gene_synonym="HBA71; MIC2; MIC2X; MIC2Y; MSK5X"
                     /coded_by="NM_001321370.2:67..573"
                     /note="isoform f precursor is encoded by transcript
                     variant 7"
                     /db_xref="GeneID:4267"
                     /db_xref="HGNC:HGNC:7082"
                     /db_xref="MIM:313470"
                     /db_xref="MIM:450000"
ORIGIN      
        1 margaalall lfgllgvlva apdggfdlsd alpdnenkkp taipkkpsag ddfdlgdavv
       61 dgenddprpp nppkpmpnpn pnhpsssgsf sdadladgvs ggeadapgvi pgivgavvva
      121 vagaissfia yqkkklcfke naeqgevdme shrnanaepa vqrtllek
//
LOCUS       NP_001369459             726 aa            linear   PRI 18-MAR-2023
DEFINITION  amyloid beta precursor like protein 2 isoform 14 [Homo sapiens].
ACCESSION   NP_001369459
VERSION     NP_001369459.1
DBSOURCE    REFSEQ: accession NM_001382530.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 726)
  AUTHORS   Yanagida K, Maruyama R, Tagami S, Kudo T, Okochi M and Fukumori A.
  TITLE     APLP2 is predominantly cleaved by beta-secretase and
            gamma-secretase in the human brain
  JOURNAL   Psychogeriatrics 23 (2), 311-318 (2023)
   PUBMED   36691315
  REMARK    GeneRIF: APLP2 is predominantly cleaved by beta-secretase and
            gamma-secretase in the human brain.
REFERENCE   2  (residues 1 to 726)
  AUTHORS   Abuzhalihan J, Adi D, Wang YT, Li Y, Yang YN, Ma X, Li XM, Xie X,
            Liu F, Chen BD, Gai MT, Fu ZY and Ma YT.
  TITLE     APLP2 gene polymorphisms are associated with high TC and LDL-C
            levels in Chinese population in Xinjiang, China
  JOURNAL   Biosci Rep 40 (8) (2020)
   PUBMED   32716039
  REMARK    GeneRIF: APLP2 gene polymorphisms are associated with high TC and
            LDL-C levels in Chinese population in Xinjiang, China.
REFERENCE   3  (residues 1 to 726)
  AUTHORS   Sliker BH, Goetz BT, Peters HL, Poelaert BJ, Borgstahl GEO and
            Solheim JC.
  TITLE     Beta 2-microglobulin regulates amyloid precursor-like protein 2
            expression and the migration of pancreatic cancer cells
  JOURNAL   Cancer Biol Ther 20 (6), 931-940 (2019)
   PUBMED   30810435
  REMARK    GeneRIF: our findings indicate that beta2m regulates pancreatic
            cancer cell migration, and furthermore suggest that APLP2 is an
            intermediary in this process.
REFERENCE   4  (residues 1 to 726)
  AUTHORS   Chen,Y., Wang,H., Tan,C., Yan,Y., Shen,J., Huang,Q., Xu,T., Lin,J.
            and Chen,J.
  TITLE     Expression of amyloid precursor-like protein 2 (APLP2) in
            glioblastoma is associated with patient prognosis
  JOURNAL   Folia Neuropathol 56 (1), 30-38 (2018)
   PUBMED   29663738
  REMARK    GeneRIF: the expression of APLP2 might correlate with tumor
            development and be a prognostic factor for patients with
            glioblastoma
REFERENCE   5  (residues 1 to 726)
  AUTHORS   Castelblanco E, Zafon C, Maravall J, Gallel P, Martinez M, Capel I,
            Bella MR, Halperin I, Temprana J, Iglesias C, Puig-Domingo M,
            Robledo M, Matias-Guiu X and Mauricio D.
  TITLE     APLP2, RRM2, and PRC1: New Putative Markers for the Differential
            Diagnosis of Thyroid Follicular Lesions
  JOURNAL   Thyroid 27 (1), 59-66 (2017)
   PUBMED   27796194
  REMARK    GeneRIF: These findings suggest that the identified APLP2, RRM2,
            and PRC1 signature could be useful for distinguishing between
            benign (follicular adenoma) and malignant (follicular carcionma and
            follicular variant of papillary carcinoma) tumors of the thyroid
            follicular epithelium.
REFERENCE   6  (residues 1 to 726)
  AUTHORS   Blangy A, Vidal F, Cuzin F, Yang YH, Boulukos K and Rassoulzadegan
            M.
  TITLE     CDEBP, a site-specific DNA-binding protein of the 'APP-like'
            family, is required during the early development of the mouse
  JOURNAL   J Cell Sci 108 (Pt 2), 675-683 (1995)
   PUBMED   7539437
REFERENCE   7  (residues 1 to 726)
  AUTHORS   von der Kammer H, Hanes J, Klaudiny J and Scheit KH.
  TITLE     A human amyloid precursor-like protein is highly homologous to a
            mouse sequence-specific DNA-binding protein
  JOURNAL   DNA Cell Biol 13 (11), 1137-1143 (1994)
   PUBMED   7702756
REFERENCE   8  (residues 1 to 726)
  AUTHORS   Bush AI, Pettingell WH Jr, de Paradis M, Tanzi RE and Wasco W.
  TITLE     The amyloid beta-protein precursor and its mammalian homologues.
            Evidence for a zinc-modulated heparin-binding superfamily
  JOURNAL   J Biol Chem 269 (43), 26618-26621 (1994)
   PUBMED   7929392
REFERENCE   9  (residues 1 to 726)
  AUTHORS   von der Kammer H, Loffler C, Hanes J, Klaudiny J, Scheit KH and
            Hansmann I.
  TITLE     The gene for the amyloid precursor-like protein APLP2 is assigned
            to human chromosome 11q23-q25
  JOURNAL   Genomics 20 (2), 308-311 (1994)
   PUBMED   8020984
REFERENCE   10 (residues 1 to 726)
  AUTHORS   Wasco W, Gurubhagavatula S, Paradis MD, Romano DM, Sisodia SS,
            Hyman BT, Neve RL and Tanzi RE.
  TITLE     Isolation and characterization of APLP2 encoding a homologue of the
            Alzheimer's associated amyloid beta protein precursor
  JOURNAL   Nat Genet 5 (1), 95-100 (1993)
   PUBMED   8220435
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003041.3 and AP001183.6.
            
            Summary: This gene encodes amyloid precursor- like protein 2
            (APLP2), which is a member of the APP (amyloid precursor protein)
            family including APP, APLP1 and APLP2. This protein is ubiquitously
            expressed. It contains heparin-, copper- and zinc- binding domains
            at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the
            middle region, and transmembrane and intracellular domains at the
            C-terminus. This protein interacts with major histocompatibility
            complex (MHC) class I molecules. The synergy of this protein and
            the APP is required to mediate neuromuscular transmission, spatial
            learning and synaptic plasticity. This protein has been implicated
            in the pathogenesis of Alzheimer's disease. Multiple alternatively
            spliced transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Aug 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372080.3232258.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145313, SAMEA2149004
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..726
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.3"
     Protein         1..726
                     /product="amyloid beta precursor like protein 2 isoform
                     14"
                     /note="amyloid precursor protein homolog HSD-2; CDEI
                     box-binding protein; amyloid beta (A4) precursor-like
                     protein 2; testicular tissue protein Li 23; sperm membrane
                     protein YWK-II"
                     /calculated_mol_wt=82482
     Region          42..204
                     /region_name="A4_EXTRA"
                     /note="amyloid A4; smart00006"
                     /db_xref="CDD:128326"
     Region          309..360
                     /region_name="Kunitz_ABPP-like"
                     /note="Kunitz domain found in the amyloid-beta precursor
                     protein (ABPP) subfamily; cd22607"
                     /db_xref="CDD:438650"
     Site            order(316..324,339,341,343)
                     /site_type="other"
                     /note="serine protease binding site [polypeptide binding]"
                     /db_xref="CDD:438650"
     Region          365..547
                     /region_name="APP_E2"
                     /note="E2 domain of amyloid precursor protein; pfam12925"
                     /db_xref="CDD:432878"
     Region          643..723
                     /region_name="JMTM_APLP2"
                     /note="juxtamembrane and transmembrane (JMTM) domain found
                     in amyloid-like protein 2 (APLP-2) and similar proteins;
                     cd21709"
                     /db_xref="CDD:411992"
     Site            order(643..644,658,661..662,665..666,668..669,672..673,
                     676,679)
                     /site_type="other"
                     /note="putative homodimer interface [polypeptide binding]"
                     /db_xref="CDD:411992"
     Site            order(644..646,662..663,665..666,668..673,676..681)
                     /site_type="other"
                     /note="putative polypeptide substrate binding site
                     [polypeptide binding]"
                     /db_xref="CDD:411992"
     CDS             1..726
                     /gene="APLP2"
                     /gene_synonym="APLP-2; APPH; APPL2; CDEBP"
                     /coded_by="NM_001382530.1:85..2265"
                     /note="isoform 14 is encoded by transcript variant 16"
                     /db_xref="GeneID:334"
                     /db_xref="HGNC:HGNC:598"
                     /db_xref="MIM:104776"
ORIGIN      
        1 maatgtaaaa atgrllllll vgltapalal agyiealaan agtgfavaep qiamfcgkln
       61 mhvniqtgkw epdptgtksc fetkeevlqy cqemypelqi tnvmeanqrv sidnwcrrdk
      121 kqcksrfvtp fkclvgefvs dvllvpekcq ffhkermevc enhqhwhtvv keacltqgmt
      181 lysygmllpc gvdqfhgtey vccpqtkiig svskeeeeed eeeeeeedee edydvyksef
      241 pteadledft eaavdedded eeegeevved rdyyydtfkg ddyneenpte pgsdgtmsdk
      301 eithdvkavc sqeamtgpcr avmprwyfdl skgkcvrfiy ggcggnrnnf esedycmavc
      361 kamipptplp tndvdvyfet saddneharf qkakeqleir hrnrmdrvkk eweeaelqak
      421 nlpkaerqtl iqhfqamvka lekeaasekq qlvethlarv eamlndrrrm alenylaalq
      481 sdpprphril qalrryvrae nkdrlhtirh yqhvlavdpe kaaqmksqvm thlhvieerr
      541 nqslsllykv pyvaqeiqee idellqeqra dmdqftasis etpvdvrvss eeseeippfh
      601 pfhpfpalpe negsgvgeqd ggligaeekv insknkvden mesvgplred fslsssalig
      661 llviavaiat vivislvmlr krqygtishg ivevdpmltp eerhlnkmqn hgyenptyky
      721 leqmqi
//
LOCUS       NP_001166045             610 aa            linear   PRI 20-MAR-2023
DEFINITION  microcephalin isoform 2 [Homo sapiens].
ACCESSION   NP_001166045
VERSION     NP_001166045.2
DBSOURCE    REFSEQ: accession NM_001172574.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 610)
  AUTHORS   Caraffi SG, Pollazzon M, Farooq M, Fatima A, Larsen LA, Zuntini R,
            Napoli M and Garavelli L.
  TITLE     MCPH1: A Novel Case Report and a Review of the Literature
  JOURNAL   Genes (Basel) 13 (4), 634 (2022)
   PUBMED   35456440
  REMARK    GeneRIF: MCPH1: A Novel Case Report and a Review of the Literature.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 610)
  AUTHORS   Khan NM, Masoud MS, Baig SM, Qasim M and Chang J.
  TITLE     Identification of Pathogenic Mutations in Primary Microcephaly-
            (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in
            Consanguineous Pakistani Families
  JOURNAL   Biomed Res Int 2022, 3769948 (2022)
   PUBMED   35281599
  REMARK    GeneRIF: Identification of Pathogenic Mutations in Primary
            Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in
            Consanguineous Pakistani Families.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 610)
  AUTHORS   Kristofova M and Wang ZQ.
  TITLE     MCPH1, beyond its role deciding the brain size
  JOURNAL   Aging (Albany NY) 13 (20), 23437-23439 (2021)
   PUBMED   34705666
  REMARK    GeneRIF: MCPH1, beyond its role deciding the brain size.
REFERENCE   4  (residues 1 to 610)
  AUTHORS   Gavvovidis I, Rost I, Trimborn M, Kaiser FJ, Purps J, Wiek C,
            Hanenberg H, Neitzel H and Schindler D.
  TITLE     A novel MCPH1 isoform complements the defective chromosome
            condensation of human MCPH1-deficient cells
  JOURNAL   PLoS One 7 (8), e40387 (2012)
   PUBMED   22952573
  REMARK    GeneRIF: MCPH1 encodes different isoforms that are differentially
            regulated at the transcript level and have different functions at
            the protein level
REFERENCE   5  (residues 1 to 610)
  AUTHORS   Wang YQ and Su B.
  TITLE     Molecular evolution of microcephalin, a gene determining human
            brain size
  JOURNAL   Hum Mol Genet 13 (11), 1131-1137 (2004)
   PUBMED   15056608
REFERENCE   6  (residues 1 to 610)
  AUTHORS   Kumar A, Markandaya M and Girimaji SC.
  TITLE     Primary microcephaly: microcephalin and ASPM determine the size of
            the human brain
  JOURNAL   J Biosci 27 (7), 629-632 (2002)
   PUBMED   12571366
  REMARK    GeneRIF: microcephalin and ASPM determine the size of the human
            brain
REFERENCE   7  (residues 1 to 610)
  AUTHORS   Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts
            E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y,
            Mueller RF, Markham AF and Woods CG.
  TITLE     Identification of microcephalin, a protein implicated in
            determining the size of the human brain
  JOURNAL   Am J Hum Genet 71 (1), 136-142 (2002)
   PUBMED   12046007
  REMARK    GeneRIF: Identification of microcephalin, a protein implicated in
            determining the size of the human brain, which is mapped to the
            MCPH1 locus and is mutated in primary microcephaly.
REFERENCE   8  (residues 1 to 610)
  AUTHORS   Neitzel H, Neumann LM, Schindler D, Wirges A, Tonnies H, Trimborn
            M, Krebsova A, Richter R and Sperling K.
  TITLE     Premature chromosome condensation in humans associated with
            microcephaly and mental retardation: a novel autosomal recessive
            condition
  JOURNAL   Am J Hum Genet 70 (4), 1015-1022 (2002)
   PUBMED   11857108
REFERENCE   9  (residues 1 to 610)
  AUTHORS   Jackson AP, McHale DP, Campbell DA, Jafri H, Rashid Y, Mannan J,
            Karbani G, Corry P, Levene MI, Mueller RF, Markham AF, Lench NJ and
            Woods CG.
  TITLE     Primary autosomal recessive microcephaly (MCPH1) maps to chromosome
            8p22-pter
  JOURNAL   Am J Hum Genet 63 (2), 541-546 (1998)
   PUBMED   9683597
REFERENCE   10 (residues 1 to 610)
  AUTHORS   Verloes,A., Drunat,S., Gressens,P. and Passemard,S.
  TITLE     Primary Autosomal Recessive Microcephalies and Seckel Syndrome
            Spectrum Disorders - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301772
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016065.14.
            On Aug 13, 2020 this sequence version replaced NP_001166045.1.
            
            Summary: This gene encodes a DNA damage response protein. The
            encoded protein may play a role in G2/M checkpoint arrest via
            maintenance of inhibitory phosphorylation of cyclin-dependent
            kinase 1. Mutations in this gene have been associated with primary
            autosomal recessive microcephaly 1 and premature chromosome
            condensation syndrome. Alternatively spliced transcript variants
            have been described. [provided by RefSeq, Feb 2010].
            
            Transcript Variant: This variant (2, also known as MCPH1deltae9-14)
            differs in the 3' coding region and 3' UTR, compared to variant 1.
            The resulting isoform (2) has a distinct C-terminus and is shorter
            than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC030702.1, SRR11853566.26210.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..610
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     Protein         1..610
                     /product="microcephalin isoform 2"
                     /note="BRCT-repeat inhibitor of TERT expression 1"
                     /calculated_mol_wt=67784
     Region          8..86
                     /region_name="BRCT_microcephalin_rpt1"
                     /note="first (N-terminal) BRCT domain of microcephalin and
                     similar proteins; cd17716"
                     /db_xref="CDD:349348"
     Region          225..607
                     /region_name="Microcephalin"
                     /note="Microcephalin protein; pfam12258"
                     /db_xref="CDD:432433"
     Site            279
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NEM0.4)"
     Site            287
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NEM0.4)"
     Site            296
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7TT79; propagated from
                     UniProtKB/Swiss-Prot (Q8NEM0.4)"
     Region          313..381
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEM0.4)"
     Site            333
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8NEM0.4)"
     Site            335
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NEM0.4)"
     Region          419..443
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEM0.4)"
     Site            548
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NEM0.4)"
     Region          555..584
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEM0.4)"
     CDS             1..610
                     /gene="MCPH1"
                     /gene_synonym="BRIT1; MCT"
                     /coded_by="NM_001172574.2:42..1874"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS55190.1"
                     /db_xref="GeneID:79648"
                     /db_xref="HGNC:HGNC:6954"
                     /db_xref="MIM:607117"
ORIGIN      
        1 maapilkdvv ayvevwssng tenysktftt qlvdmgakvs ktfnkqvthv ifkdgyqstw
       61 dkaqkrgvkl vsvlwvekcr tagahidesl fpaanmnehl sslikkkrkc mqpkdfnfkt
      121 pendkrfqkk fekmakelqr qktnldddvp illfesngsl iytptieins rhhsamekrl
      181 qemkekrenl sptssqmiqq shdnpsnslc eaplnisrdt lcsdeyfagg lhssfddlcg
      241 nsgcgnqerk legsindiks dvcisslvlk annihsspsf thldksspqk flsnlskeei
      301 nlqrniagkv vtpdqkqaag msqetfeeky rlsptlsstk ghllihsrpr sssvkrkrvs
      361 hgshsppkek ckrkrstrrs imprlqlcrs edrlqhvagp alealscges syddyfspdn
      421 lkerysenlp pesqlpsspa qlscrslskk ertsifemsd fscvgkktrt vditnftakt
      481 issprktgng egratsscvt sapeealrcc rqagkedacp egngfsytie dpalpkghdd
      541 dltplegsle emkeavglks tqnkgttski snssegeaqs ehepcfivdc nmetsteeke
      601 nlpggysgsm
//
LOCUS       XP_011539298             337 aa            linear   PRI 20-MAR-2023
DEFINITION  exostosin-like 2 isoform X2 [Homo sapiens].
ACCESSION   XP_011539298
VERSION     XP_011539298.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011540996.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..337
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..337
                     /product="exostosin-like 2 isoform X2"
                     /calculated_mol_wt=38095
     Region          74..324
                     /region_name="Glyco_transf_64"
                     /note="Glycosyl transferase family 64 domain; pfam09258"
                     /db_xref="CDD:430488"
     CDS             1..337
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /coded_by="XM_011540996.3:282..1295"
                     /db_xref="GeneID:2135"
                     /db_xref="HGNC:HGNC:3516"
                     /db_xref="MIM:602411"
ORIGIN      
        1 mrtwnsggtk cchicklpgr vmgirvlrls lvvilvlllv agaltallps vkedkmlmlr
       61 reiksqgkst mdsftlimqt ynrtdlllkl lnhyqavpnl hkvivvwnni gekapdelwn
      121 slgphpipvi fkqqtanrmr nrlqvfpele tnvlmvdddt listpdlvfa fsvwqqfpdq
      181 ivgfvprkhv stssgiysyg sfemqapgsg ngdqysmvli gasffnskyl elfqrqpaav
      241 haliddtqnc ddiamnfiia khigktsgif vkpvnmdnle ketnsgysgm whraehalqr
      301 sycinklvni ydsmplrysn imisqfgfpy anykrki
//
LOCUS       XP_047305404             483 aa            linear   PRI 20-MAR-2023
DEFINITION  netrin-G1 isoform X2 [Homo sapiens].
ACCESSION   XP_047305404
VERSION     XP_047305404.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449448.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..483
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..483
                     /product="netrin-G1 isoform X2"
                     /calculated_mol_wt=54059
     Region          50..295
                     /region_name="Laminin_N"
                     /note="Laminin N-terminal (Domain VI); pfam00055"
                     /db_xref="CDD:425444"
     Region          296..342
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(297,299,315,317,326)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          364..411
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domai;
                     smart00180"
                     /db_xref="CDD:214543"
     Site            order(364,366,376,382,384,393)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          <418..442
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     CDS             1..483
                     /gene="NTNG1"
                     /gene_synonym="Lmnt1"
                     /coded_by="XM_047449448.1:651..2102"
                     /db_xref="GeneID:22854"
                     /db_xref="HGNC:HGNC:23319"
                     /db_xref="MIM:608818"
ORIGIN      
        1 mylsrflsih alwvtvssvm qpyplvwghy dlcktqiyte egkvwdymac qpestdmtky
       61 lkvkldppdi tcgdppetfc amgnpymcnn ecdastpela hppelmfdfe grhpstfwqs
      121 atwkeypkpl qvnitlswsk tieltdnivi tfesgrpdqm ileksldygr twqpyqyyat
      181 dcldafhmdp ksvkdlsqht vleiicteey stgyttnski ihfeikdrfa ffagprlrnm
      241 aslygqldtt kklrdfftvt dlrirllrpa vgeifvdelh laryfyaisd ikvrgrckcn
      301 lhatvcvydn skltcecehn ttgpdcgkck knyqgrpwsp gsylpipkgt antcipsiss
      361 igkcycnplg sihdrcngsg fcecktgttg pkcdeclpgn swhygcqpnv cdnellhcqn
      421 ggtchnnvrc lcpaaytgil ceklrceeag scgsdsgqga pphgspalll lttllgtasp
      481 lvf
//
LOCUS       XP_047274032             327 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1
            isoform X2 [Homo sapiens].
ACCESSION   XP_047274032
VERSION     XP_047274032.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418076.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..327
                     /product="guanine nucleotide-binding protein
                     G(I)/G(S)/G(T) subunit beta-1 isoform X2"
                     /calculated_mol_wt=35915
     Region          35..327
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(41,59,63,69..70,77..78,101,105,111..112,128..129,
                     146,150,156..157,170,187,192,198..199,211..212,230,234,
                     240..241,252..253,273,278,284..285,297..298,316,320,
                     326..327)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          45..82
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          88..128
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          133..168
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          175..210
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          216..252
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          260..296
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          302..326
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..327
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /coded_by="XM_047418076.1:315..1298"
                     /db_xref="GeneID:2782"
                     /db_xref="HGNC:HGNC:4396"
                     /db_xref="MIM:139380"
ORIGIN      
        1 mseldqlrqe aeqlknqiri tnnidpvgri qmrtrrtlrg hlakiyamhw gtdsrllvsa
       61 sqdgkliiwd syttnkvhai plrsswvmtc ayapsgnyva cggldnicsi ynlktregnv
      121 rvsrelaght gylsccrfld dnqivtssgd ttcalwdiet gqqtttftgh tgdvmslsla
      181 pdtrlfvsga cdasaklwdv regmcrqtft ghesdinaic ffpngnafat gsddatcrlf
      241 dlradqelmt yshdniicgi tsvsfsksgr lllagyddfn cnvwdalkad ragvlaghdn
      301 rvsclgvtdd gmavatgswd sflkiwn
//
LOCUS       XP_011542522             315 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 692 isoform X1 [Homo sapiens].
ACCESSION   XP_011542522
VERSION     XP_011542522.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544220.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Mar 26, 2018 this sequence version replaced XP_011542522.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..315
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..315
                     /product="zinc finger protein 692 isoform X1"
                     /calculated_mol_wt=34249
     Region          4..>121
                     /region_name="kgd"
                     /note="multifunctional oxoglutarate
                     decarboxylase/oxoglutarate dehydrogenase thiamine
                     pyrophosphate-binding subunit/dihydrolipoyllysine-residue
                     succinyltransferase subunit; PRK12270"
                     /db_xref="CDD:237030"
     Region          <86..204
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          <154..>281
                     /region_name="COG5236"
                     /note="Uncharacterized conserved protein, contains RING
                     Zn-finger [General function prediction only]"
                     /db_xref="CDD:227561"
     Region          157..179
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(157,162,175,179)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(164,166,168,170..171,174..175,178,192,194,198..199,
                     202..203,206,220,222,224,226..227,230..231,234)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          187..207
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          215..235
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          246..263
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..315
                     /gene="ZNF692"
                     /gene_synonym="AREBP; Zfp692"
                     /coded_by="XM_011544220.3:732..1679"
                     /db_xref="GeneID:55657"
                     /db_xref="HGNC:HGNC:26049"
                     /db_xref="MIM:617758"
ORIGIN      
        1 mlsdaslwty ssspddsepd aprllpspvt ctpkegetpp apaalsspla vpalsassls
       61 srapppaevr vqpqlsrtpq aaqqtealas tgsqaqsapt pawdedtaqi gpkrirkaak
      121 relmpcdfpg cgrifsnrqy lnhhkkyqhi hqksfscpep acgksfnfkk hlkehmklhs
      181 dtrdyicefc arsfrtssnl vihrrihtge kplqceicgf tcrqkaslnw hqrkhaetva
      241 alrfpcefcg krfekpdsva ahrskshpal llapqespsg plepcpsisa pgplgssegs
      301 rpsaspqapt llpqq
//
LOCUS       XP_011540940             346 aa            linear   PRI 20-MAR-2023
DEFINITION  deuterosome assembly protein 1 isoform X10 [Homo sapiens].
ACCESSION   XP_011540940
VERSION     XP_011540940.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011542638.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..346
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..346
                     /product="deuterosome assembly protein 1 isoform X10"
                     /calculated_mol_wt=40445
     Region          <6..>155
                     /region_name="PRK03918"
                     /note="DNA double-strand break repair ATPase Rad50"
                     /db_xref="CDD:235175"
     CDS             1..346
                     /gene="DEUP1"
                     /gene_synonym="CCDC67"
                     /coded_by="XM_011542638.3:122..1162"
                     /db_xref="GeneID:159989"
                     /db_xref="HGNC:HGNC:26344"
                     /db_xref="MIM:617148"
ORIGIN      
        1 mgefmameag lsevkselqs rddllriiem erlqlhrell kigecqnaqg nktrlessyl
       61 psikeperki kelfsvmqdq pnhekelnki rsqlqqveey hnseqermrn eisdlteelh
      121 qkeitiatvt kkaallekql kmeleikekm lakqkvsdmk ykavrtenth lkgmmgdldp
      181 geymsmdftn reqsrhtsin klqyenerlr ndlaklhvng kstwtnqnty eetgryayqs
      241 qikveqneer lshdcepnrs tmpplppstf qakemtsplv sdddvfplsp pdmsfpasla
      301 aqhflleeek rakeleklln thidelqrht eftlnkyskl kqnrhi
//
LOCUS       XP_024304277             258 aa            linear   PRI 20-MAR-2023
DEFINITION  dnaJ homolog subfamily B member 13 isoform X4 [Homo sapiens].
ACCESSION   XP_024304277
VERSION     XP_024304277.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024448509.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..258
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..258
                     /product="dnaJ homolog subfamily B member 13 isoform X4"
                     /calculated_mol_wt=29383
     Region          2..>122
                     /region_name="PRK14288"
                     /note="molecular chaperone DnaJ"
                     /db_xref="CDD:172776"
     Region          82..244
                     /region_name="DnaJ_C"
                     /note="C-terminal substrate binding domain of DnaJ and
                     HSP40; cd10747"
                     /db_xref="CDD:199909"
     Site            order(84,99..104,119,143)
                     /site_type="other"
                     /note="substrate binding site [polypeptide binding]"
                     /db_xref="CDD:199909"
     Site            order(180..181,184..185,206..209,240..244)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:199909"
     CDS             1..258
                     /gene="DNAJB13"
                     /gene_synonym="CILD34; RSPH16A; TSARG5; TSARG6"
                     /coded_by="XM_024448509.2:681..1457"
                     /db_xref="GeneID:374407"
                     /db_xref="HGNC:HGNC:30718"
                     /db_xref="MIM:610263"
ORIGIN      
        1 mkrgiydkfg eeglkggipl efgsqtpwtt gyvfhgkpek vfheffggnn pfseffdaeg
       61 sevdlnfggl qgrgvkkqdp qverdlylsl edlffgctkk ikisrrvlne dgysstikdk
      121 iltidvkpgw rqgtritfek egdqgpniip adiifivkek lhprfrrend nlffvnpipl
      181 gkaltcctve vrtlddrlln ipindiihpk yfkkvpgegm plpedptkkg dlfiffdiqf
      241 ptrltpqkkq mlrqallt
//
LOCUS       XP_047283265            1045 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA2-interacting transcriptional repressor EMSY isoform X45 [Homo
            sapiens].
ACCESSION   XP_047283265
VERSION     XP_047283265.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427309.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1045
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1045
                     /product="BRCA2-interacting transcriptional repressor EMSY
                     isoform X45"
                     /calculated_mol_wt=112383
     Region          17..86
                     /region_name="ENT"
                     /note="ENT domain; pfam03735"
                     /db_xref="CDD:427473"
     Region          <900..1037
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     CDS             1..1045
                     /gene="EMSY"
                     /gene_synonym="C11orf30; GL002"
                     /coded_by="XM_047427309.1:151..3288"
                     /db_xref="GeneID:56946"
                     /db_xref="HGNC:HGNC:18071"
                     /db_xref="MIM:608574"
ORIGIN      
        1 mpvvwptlld lsrdeckril rkleleayag visalraqgd ltkekkdllg elskvlsist
       61 erhraevrra vnderlttia hnmsgpnsss ewsiegrrlv plmprlvpqt aftvtanava
      121 naaiqhnasl pvpaetgske gvscsdedek prkrrrtnss ssspvvlkev pkavvpvskt
      181 itvpvsgspk msnimqsian slpphmspvk itftkpstqt tntttqkvii vttspsstfv
      241 pnilskshny aavtklvpts viasttqkpp vvitasqssl vsnsssgsss stpspipntv
      301 avtavvsstp svvmstvaqg vstsaikmas trlpspkslv saptqilaqf pkqhqqspkq
      361 qlyqvqqqtq qqvaqpspvs hqqqpqqspl ppgikptiqi kqesgvkiit qqvqpskilp
      421 kpvtatlpts snspimvvss ngaimttklv ttptgtqaty trptvspsig rmaatpgaat
      481 yvkttsgsii tvvpkslatl ggkiissniv sgtttkitti pmtskpnviv vqkttgkgtt
      541 iqglpgknvv ttllnaggek tiqtvptgak pailtatrpi tkmivtqpkg igstvqpaak
      601 iiptkivygq qgktqvlikp kpvtfqatvv seqtrqlvte tlqqasrvae agnssiqegk
      661 eepqnytdss ssstessqss qdsqpvvhvi asrrqdwseh eiametspti iyqdvssesq
      721 satstikall elqqttvkek leskprqpti dlsqmavpiq mtqekrhspe spsiavvese
      781 lvaeyitter tdegtevafp llvshrsqpq qpsqpqrtll qhvaqsqtat qtsvvvksip
      841 asspgaithi mqqalsshta ftkhseelgt eegeveemdt ldpqtglfyr saltqsqsak
      901 qqklsqpple qtqlqvktlq cfqtkqkqti hlqadqlqhk lpqmpqlsir hqkltplqqe
      961 qaqpkpdvqh tqhpmvakdr qlptlmaqpp qtvvqvlavk ttqqlpklqq apnqpkiyvq
     1021 pqtpqsqmsl passekqtas qvtey
//
LOCUS       XP_047283646             403 aa            linear   PRI 20-MAR-2023
DEFINITION  fatty acyl-CoA reductase 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047283646
VERSION     XP_047283646.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427690.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..403
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..403
                     /product="fatty acyl-CoA reductase 1 isoform X2"
                     /calculated_mol_wt=45252
     Region          11..333
                     /region_name="FAR-N_SDR_e"
                     /note="fatty acyl CoA reductases (FARs), extended (e)
                     SDRs; cd05236"
                     /db_xref="CDD:187547"
     Site            order(17,19..22,44..46,111..113,130,151..153,204,208,
                     229..232)
                     /site_type="other"
                     /note="putative NAD(P) binding site [chemical binding]"
                     /db_xref="CDD:187547"
     Site            order(131,153,204,208)
                     /site_type="active"
                     /db_xref="CDD:187547"
     Site            order(153,204,231,243,259,265)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:187547"
     CDS             1..403
                     /gene="FAR1"
                     /gene_synonym="CSPSD; MLSTD2; PFCRD; SDR10E1"
                     /coded_by="XM_047427690.1:147..1358"
                     /db_xref="GeneID:84188"
                     /db_xref="HGNC:HGNC:26222"
                     /db_xref="MIM:616107"
ORIGIN      
        1 mvsipeyyeg knvlltgatg flgkvllekl lrscpkvnsv yvlvrqkagq tpqerveevl
       61 sgklfdrlrd enpdfrekii ainseltqpk lalseedkev iidstniifh caatvrfnen
      121 lrdavqlnvi atrqlillaq qmknlevfmh vstayaycnr khidevvypp pvdpkklids
      181 lewmddglvn ditpkligdr pntyiytkal aeyvvqqega klnvaivrps ivgaswkepf
      241 pgwidnfngp sglfiaagkg ilrtirasnn aladlvpvdv vvnmslaaaw ysgvnrymrp
      301 rnimvynctt gstnpfhwge vgyyvshsfk mnplnqvfrc psfkfnsnsl shhyrkgvsh
      361 rvsallldct hvdrsetavr riavntlcig kvvaacwrde knh
//
LOCUS       XP_047289028            1746 aa            linear   PRI 20-MAR-2023
DEFINITION  inactive tyrosine-protein kinase PEAK1 isoform X1 [Homo sapiens].
ACCESSION   XP_047289028
VERSION     XP_047289028.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433072.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1746
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1746
                     /product="inactive tyrosine-protein kinase PEAK1 isoform
                     X1"
                     /calculated_mol_wt=192976
     Region          <1503..1668
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..1746
                     /gene="PEAK1"
                     /gene_synonym="SGK269"
                     /coded_by="XM_047433072.1:2726..7966"
                     /db_xref="GeneID:79834"
                     /db_xref="HGNC:HGNC:29431"
                     /db_xref="MIM:614248"
ORIGIN      
        1 msacntfteh vwkpgecknc fkpkslhqlp pdpekapith gnvktnanhs nnhrirntgn
       61 frppvakkpt iavkptmiva dgqsicgels iqehcenkpv iigwnrnraa lsqkplnnnn
      121 eddegishvp kpygnndsak kmsdnnnglt evlkeiagld tapqirgnet nsretflgri
      181 ndcykrsler klppscmigg iketqgkhvi lsgstevisn eggrfcypef ssgeeseedv
      241 lfsnmeeehe swdesdeell ameirmrgqp rfanfrantl spvrffvdkk wntiplrnks
      301 lqricavdyd dsydeilngy eensvvsygq gsiqsmvssd stspdsslte esrsetassl
      361 sqkicnggls pgnpgdskdm keiepnyesp ssnnqdkdss qaskssikvp ethkavlalr
      421 leekdgkiav qtekeeskas tdvagqavti nlvpteeqak pyrvvnleqp lckpytvvdv
      481 saamasehle gpvnspktks ssstpnspvt sssltpgqis ahfqkssair yqevwtssts
      541 prqkipkvel itsgtgpnvp prknchksap tsptatniss ktipvkspnl seikfnsynn
      601 agmppfpiii hdeptyarss knaikvpivi npnaydnlai yksflgtsge lsvkekttsv
      661 ishtyeeiet eskvpdntts kttdclqtkg fsnstehkrg svaqkvqefn nclnrgqssp
      721 qrsyssshss pakiqratqe pvakiegtqe sqmvgssstr ekastvlsqi vasiqppqsp
      781 petpqsgpka csveelyaip pdadvakstp kstpvrpksl ftsqpsgeae apqttdsptt
      841 kvqkdpsikp vtpspsklvt spqseppapf ppprstsspy hagnllqrhf tnwtkptspt
      901 rsteaesvlh segsrraada kpkrwisfks ffrrrktdee ddkekerekg klvgldgtvi
      961 hmlppppvqr hhwfteakge ssekpaivfm yrcdpaqgql svdqskartd qaavmekgra
     1021 enallqdsek krshsspsqi pkkilshmth evtedfsprd prtvvgkqdg rgctsvttal
     1081 slpeleredg kedisdpmdp npcsatysnl gqsraamipp kqprqpkgav ddaiafggkt
     1141 dqeapnasqp tppplpkkmi irantepisk dlqksmessl cvmanptydi dpnwdassag
     1201 ssisyelkgl diesydsler plrkerpvps aansissltt lsikdrfsns meslssrrgp
     1261 scrqgrgiqk pqrqalyrgl enreevvgki rslhtdalkk lavkcedlfm agqkdqlrfg
     1321 vdswsdfrlt sdkpcceagd avyytasyak dplnnyavki ckskakesqq yyhslavrqs
     1381 lavhfniqqd cghflaevpn rllpwedpdd pekdeddmee teedakgetd gknpkpcsea
     1441 assqkenqgv mskkqrshvv vitrevpclt vadfvrdsla qhgkspdlye rqvcllllql
     1501 csglehlkpy hvthcdlrle nlllvhyqpg gtaqgfgpae psptssyptr livsnfsqak
     1561 qkshlvdpei lrdqsrlape iitatqykkc defqtgiliy emlhlpnpfd enpelkerey
     1621 tradlpripf rspysrglqq lascllnpnp serilisdak gilqcllwgp redlfqtfta
     1681 cpslvqrntl lqnwldikrt llmikfaeks ldreggisle dwlcaqylaf attdslsciv
     1741 kilqhr
//
LOCUS       XP_047289211            4854 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase HERC1 isoform X29 [Homo
            sapiens].
ACCESSION   XP_047289211
VERSION     XP_047289211.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433255.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4854
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..4854
                     /product="probable E3 ubiquitin-protein ligase HERC1
                     isoform X29"
                     /calculated_mol_wt=531202
     Region          374..731
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          2032..2189
                     /region_name="SPRY_HERC1"
                     /note="SPRY domain in HERC1; cd12881"
                     /db_xref="CDD:293939"
     Region          2753..2796
                     /region_name="UBA_HERC1"
                     /note="UBA domain found in probable E3 ubiquitin-protein
                     ligase HERC1 and similar proteins; cd14401"
                     /db_xref="CDD:270584"
     Region          3417..3768
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(3420,3438,3442,3448..3449,3476..3477,3499,
                     3505..3506,3518..3519,3544,3549,3555..3556,3574,3591,3596,
                     3617..3618,3636,3640,3646..3647,3660..3661,3685,3690,
                     3696..3697,3738..3739,3757,3761,3767..3768)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          3425..3468
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3482..3517
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3522..3569
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3578..3613
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3622..3658
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3665..3696
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3743..3779
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3991..4339
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          4466..4834
                     /region_name="HECTc"
                     /note="HECT domain; C-terminal catalytic domain of a
                     subclass of Ubiquitin-protein ligase (E3). It binds
                     specific ubiquitin-conjugating enzymes (E2), accepts
                     ubiquitin from E2, transfers ubiquitin to substrate lysine
                     side chains, and transfers additional...; cd00078"
                     /db_xref="CDD:238033"
     Site            order(4471,4512,4523,4590,4768,4798..4799,4802..4806,4826,
                     4833)
                     /site_type="active"
                     /note="catalytic cleft [active]"
                     /db_xref="CDD:238033"
     Site            order(4618,4621..4622,4624..4625,4628,4636,4638,
                     4642..4643,4645,4654,4659,4676,4680)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..4854
                     /gene="HERC1"
                     /gene_synonym="MDFPMR; p532; p619"
                     /coded_by="XM_047433255.1:149..14713"
                     /db_xref="GeneID:8925"
                     /db_xref="HGNC:HGNC:4867"
                     /db_xref="MIM:605109"
ORIGIN      
        1 matmippvkl kwlehlnssw itedsesiat regvavlysk lvsnkevvpl pqqvlclkgp
       61 qlpdferesl ssdeqdhyld allssqlala kmvcsdspfa galrkrllvl qrvfyalsnk
      121 yhdkgkvkqq qhspesssgs advhsvserp rsstdaliem gvrtglsllf allrqswmmp
      181 vsgpglslcn dvihtaievv sslpplslan eskippmgld clsqvttflk gvtipnsgad
      241 tlgrrlasel llglaaqrgs lryllewiem algasavvht mekgkllssq egmisfdcfm
      301 tilmqmrrsl gssadrsqwr eptrtsdglc slyeaalclf eevcrmasdy srtcaspdsi
      361 qtgdapivse tcevyvwgsn sshqlvegtq ekilqpklap sfsdaqtiea gqyctfvist
      421 dgsvracgkg sygrlglgds nnqstlkklt fephrsikkv ssskgsdght lafttegevf
      481 swgdgdygkl ghgnsstqky pkliqgplqg kvvvcvsagy rhsaavtedg elytwgegdf
      541 grlghgdsns rniptlvkdi snvgevscgs shtialskdg rtvwsfgggd ngklghgdtn
      601 rvykpkviea lqgmfirkvc agsqsslalt stgqvyawgc gaclgcgsse atalrpklie
      661 elaatrivdv sigdshclal shdnevyawg nnsmgqcgqg nstgpitkpk kvsgldgiai
      721 qqisagtshs lawtalprdr qvvawhrpyc vdleestfsh lrsflerycd kinseipplp
      781 fpssrehhsf lklclkllsn hlalalaggv atsilgrqag plrnllfrlm dstvpdeiqe
      841 vvietlsvga tmllpplrer mellhsllpq gpdrweslsk gqrmqldiil tslqdhthva
      901 sllgysspsd aadlssvctg ygnlsdqpyg tqschpdthl aeilmktllr nlgfytdqaf
      961 geleknsdkf llgtsssens qpahlhellc slqkqllafc hinnisenss svallhkhlq
     1021 lllphatdiy srsanllkes pwngsvgekl rdviyvsaag smlcqivnsl lllpvsvarp
     1081 llsylldllp pldclnrllp aadlledqel qwplhggpel idpaglplpq paqswvwlvd
     1141 lertiallig rclggmlqgs pvspeeqdta ywmktplfsd gvemdtpqld kcmsclleva
     1201 lsgneeqkpf dyklrpeiav yvdlalgcsk eparslwism qdyavskdwd satlsnesll
     1261 dtvsrfvlaa llkhtnllsq acgesryqpg khlsevyrcv ykvrsrllac knleliqtrs
     1321 ssrdrwisen qdsadvdpqe hsftrtidee aemeeqaerd reeghpeped eeeerehevm
     1381 tagkifqcfl sarevarsrd rdrmnsgags garaddpppq sqqerrvstd lpegqdvyta
     1441 acnsvihrca llilgvspvi delqkrreeg qlqqpstsas eggglmtrse sltaesrlvh
     1501 tspnyrliks rsesdlsqpe sdeegyalsg rrnvdldlaa shrkrgpmhs qleslsdswa
     1561 rlkhsrdwlc nssysfesdf dltkslgvht lienvvsfvs gdvgnapgfk epeesmstsp
     1621 qasiiameqq qlraelrlea lhqilvllsg meekgsisla gsrlssgfqs stlltsvrlq
     1681 flagcfglgt vghtggkges grlhhyqdgi raakrniqie iqvavhkiyq qlsatleral
     1741 qankhhieaq qrlllvtvfa lsvhyqpvdv slaistglln vlsqlcgtdt mlgqplqllp
     1801 ktgvsqlsta lkvastrllq ilaittgtya dklspkvvqs lldllcsqlk nllsqtgvlh
     1861 masfgegeqe dgeeeekkvd ssgetekkdf raalrkqhaa elhlgdflvf lrrvvsskai
     1921 qskmaspkwt evllniasqk cssgiplvgn lrtrllalhv leavlpaces gveddqmaqi
     1981 verlfsllsd cmwetpiaqa khaiqikeke qeiklqkqge leeedenlpi qevsfdpeka
     2041 qcclvengqi lthgsggkgy glastgvtsg cyqwkfyivk enrgnegtcv gvsrwpvhdf
     2101 nhrttsdmwl yraysgnlyh ngeqtltlss ftqgdfitcv ldmeartisf gkngeepkla
     2161 fedvdaaely pcvmfyssnp gekvkicdmq mrgtprdllp gdpicspvaa vlaeatiqli
     2221 rilhrtdrwt ycinkkmmer lhkikicike sgqklkksrs vqsreenemr eekeskeeek
     2281 gkhtrhglad lselqlrtlc ievwpvlavi ggvdaglrvg grcvhkqtgr hatllgvvke
     2341 gstsakvqwd eaeitisfpt fwspsdtply nlepceplpf dvarfrglta svlldltylt
     2401 gvhedmgkqs tkrhekkhrh eseekgdveq kpesesaldm rtgltsddvk sqsttsskse
     2461 neiasfsldp tlpsvesqhq itegkrknhe hmsknhdvaq seiravqlsy lylgamksls
     2521 allgcskyae lllipkvlae nghnsdcass pvvhedvemr aalqflmrhm vkravmrspi
     2581 kralgladle raqamiyklv vhglledqfg gkikqeidqq aeesdpaqqa qtpvttspsa
     2641 ssttsfmsss ledtttattp vtdtetvpas espgvmplsl lrqmfssypt ttvlptrraq
     2701 tppisslpts psdevgrrqs ltspdsqsar panrtalsdp ssrlstsppp paiavpllem
     2761 gfslrqiaka meatgargea daqnitvlam wmiehpghed eeepqsgsta dsrpgaavlg
     2821 sggksndpcy lqspgdipsa daaemeegfs espdnldhte naasgsgpsa rgrsavtrrh
     2881 kfdlaartll araaglyrsv qahrnqsrre gislqqdpga lydfnldeel eidlddeame
     2941 amfgqdltsd ndilgmwipe hvcesedree vvvcelcecs vvsfnqhmkr nhpgcgrsan
     3001 rqgyrsngsy vdgwfggecg sgnpyyllcg tcrekylamk tkskstsser ykgqapdlig
     3061 kqdsvyeedw dmldvdedek ltgeeefell agplglndrr ivpepvqfpd sdplgasvam
     3121 vtatnsmeet lmqigchgsv eksssgritl geqaaalanp hdrvvalrrv taaaqvllar
     3181 tmvmralsll svsgsscsla agleslgltd irtlvrlmcl aaagraglst spsamastse
     3241 rsrgghskan kpisclayls tavgclasna psaakllvql ctqnlisaat gvnlttvdds
     3301 iqrkflpsfl rgiaeenklv tspnfvvtqa lvalladkga klrpnydkse vekkgplela
     3361 nalaacclss rlssqhrqwa aqqlvrtlaa hdrdnqttlq tladmggdlr kcsfikleah
     3421 qnrvmtcvwc nkkgllatsg ndgtirvwnv tkkqyslqqt cvfnrlegda eeslgspsdp
     3481 sfspvswsis gkylagalek mvniwqvngg kglvdiqphw vsalawpeeg patawsgesp
     3541 elllvgrmdg slglievvdv stmhrreleh cyrkdvsvtc iawfsedrpf avgyfdgkll
     3601 lgtkeplekg givlidahkd tlismkwdpt ghilmtcake dsvklwgsis gcwcclhslc
     3661 hpsivngiaw crlpgkgskl qllmatgcqs glvcvwripq dttqtnvtsa egwweqesnc
     3721 qdgyrkssga kcvyqlrghi tpvrtvafss dglalvsggl gglmniwslr dgsvlqtvvi
     3781 gsgaiqttvw ipevgvaacs nrskdvlvvn ctaewaaanh vlatcrtalk qqgvlglnma
     3841 pcmraflerl pmmlqeqyay ekphvvcgdq lvhspymqcl aslavglhld qllcnppvpp
     3901 hhqnclpdpa swnpnewawl ecfsttikaa ealtngaqfp esftvpdlep vpedelvflm
     3961 dnskwingmd eqimswatsr pedwhlggkc dvylwgagrh gqlaeagrnv mvpaaapsfs
     4021 qaqqvicgqn ctfviqangt vlacgegsyg rlgqgnsddl hvltvisalq gfvvtqlvts
     4081 cgsdghsmal tesgevfswg dgdygklghg nsdrqrrprq iealqgeevv qmscgfkhsa
     4141 vvtsdgklft fgngdygrlg lgntsnkklp ervtalegyq igqvacglnh tlavsadgsm
     4201 vwafgdgdyg klglgnstak sspqkidvlc gigikkvacg tqfsvaltkd ghvytfgqdr
     4261 liglpegrar nhnrpqqipv lagviiedva vgaehtlala sngdvyawgs nsegqlglgh
     4321 tnhvreptlv tglqgknvrq isagrchsaa wtappvppra pgvsvplqlg lpdtvppqyg
     4381 alrevsihtv rarlrllyhf sdlmysswrl lnlspnnqns tshynagtwg ivqgqlrpll
     4441 aprvytlpmv rsigktmvqg knygpqitvk ristrgrkck pifvqiarqv vklnasdlrl
     4501 psrawkvklv gegaddaggv fddtitemcq eletgivdll ipspnataev gynrdrflfn
     4561 psacldehlm qfkflgilmg vairtkkpld lhlaplvwkq lccvpltled leevdllyvq
     4621 tlnsilhied sgiteesfhe mipldsfvgq sadgkmvpii pggnsipltf snrkeyvera
     4681 ieyrlhemdr qvaavregms wivpvpllsl ltakqleqmv cgmpeisvev lkkvvryrev
     4741 deqhqlvqwf whtleefsne ervlfmrfvs grsrlpanta disqrfqimk vdrpydslpt
     4801 sqtcffqlrl ppyssqlvma erlryainnc rsidmdnyml srnvdnaegs dtdy
//
LOCUS       XP_011521927             856 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box/WD repeat-containing protein 10 isoform X12 [Homo sapiens].
ACCESSION   XP_011521927
VERSION     XP_011521927.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523625.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..856
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..856
                     /product="F-box/WD repeat-containing protein 10 isoform
                     X12"
                     /calculated_mol_wt=97996
     Region          299..367
                     /region_name="F-box_SF"
                     /note="F-box domain superfamily; cl45894"
                     /db_xref="CDD:459239"
     Site            order(303..304,306..308,311..312,315,355..357,359,362)
                     /site_type="other"
                     /note="F-box motif"
                     /db_xref="CDD:438852"
     Site            order(303,307,310..311,314..315,348,350..351,355..357,359)
                     /site_type="other"
                     /note="Skp1 binding site [polypeptide binding]"
                     /db_xref="CDD:438852"
     Region          469..704
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(478,482,488..489,502..503,521,525,531..532,544..545,
                     560,565,571..572,584,599,604,610..611,623..624,640,644,
                     650..651,664..665,680,685,691..692,704)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          508..544
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          549..583
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          589..622
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          628..664
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          672..703
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..856
                     /gene="FBXW10"
                     /gene_synonym="Fbw10; HREP; SM25H2; SM2SH2"
                     /coded_by="XM_011523625.3:192..2762"
                     /db_xref="GeneID:10517"
                     /db_xref="HGNC:HGNC:1211"
                     /db_xref="MIM:611679"
ORIGIN      
        1 menlesrlkn apyfrcekgt dsiplcrkce tcvlawkifs tkewfcrind isqrrflvgi
       61 lkqlnslyll hyfqnilqtt qgkdfiynrs rinlskkegk vvksslnqml dktveqkmke
      121 ilywfanstq wtkanytlll lqmcnpklll taanvirvlf lreennisgk qghrqrlegp
      181 rrpegkasei wlnqditdvc fspekdhssk satsqvywta ktqhtslpls kapenehllg
      241 aasnpeepwr nslrcisemn rlfsgkgdit kpgydpcnll vdlddirdls sgfskyrdfi
      301 rylpihlsky ilsmlgcmrg fprhlpswps sgvsgsifff pgmldrhtln kcasvsqhwa
      361 amaqqvkmdl sahgfiqnqi tflqgsytrg idpnyankvs ipvpkmvddg ksmrvkhpkw
      421 klrtkneynl wtayqneetq qvlieernvf cgtynvrils dtwdqnrvih ysggdliavs
      481 snrkihlldi iqvkaipvef rghagsvral flceeenfll sgsydlsiry wdlksgvctr
      541 ifgghqgtit cmdlcknrlv sggrdcqvkv wdvdtgkclk tfrhkdpila trindtyivs
      601 scerglvkvw hiamaqlvkt lsghegavkc lffdqwhlls gstdglvmaw smvgkyercl
      661 mafkhpkevl dvsllflrvi sacadgkiri ynflngncmk vlkangrgdp vlsffiqgnr
      721 mvvntesnvl mfqfehikwq yavektkqkk nkekeeekee nslmeilskc niqvhspres
      781 vsskqtviqe llpgkppksr vllkpakfss avlieelqsq gksksprrda ghylclslrn
      841 wneynawllp rvtgfp
//
LOCUS       XP_047291674             309 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 28 isoform X3 [Homo sapiens].
ACCESSION   XP_047291674
VERSION     XP_047291674.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435718.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..309
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..309
                     /product="TBC1 domain family member 28 isoform X3"
                     /calculated_mol_wt=34524
     Region          102..>183
                     /region_name="RabGAP-TBC"
                     /note="Rab-GTPase-TBC domain; cl02495"
                     /db_xref="CDD:445800"
     CDS             1..309
                     /gene="TBC1D28"
                     /coded_by="XM_047435718.1:89..1018"
                     /db_xref="GeneID:254272"
                     /db_xref="HGNC:HGNC:26858"
ORIGIN      
        1 memdedpdnl paqgqgniii tkyeqghrag aavdlgheqv dvrkytnnlg ivhemelprv
       61 salevkqrrk eskrtnkwqk mladwtkyrs tkklsqrvck viplavrgra lsllldidki
      121 ksqnpgkykv mkekgkrssr iihciqldvs htlqkhmmfi qrfgvkqqel cdilvaysay
      181 npaalgllqd rgqflvllks pgpsdwrvts reqpswaspg tntclhplsm scsalrgawl
      241 awitscldsa fpettvaagl dvtkspcfml flevlafvas erkaiwcfge sprdappdgl
      301 lqafcsalv
//
LOCUS       XP_047294540             531 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 9 isoform X3 [Homo sapiens].
ACCESSION   XP_047294540
VERSION     XP_047294540.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438584.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..531
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..531
                     /product="coiled-coil domain-containing protein 9 isoform
                     X3"
                     /calculated_mol_wt=59572
     Region          219..373
                     /region_name="DUF4594"
                     /note="Domain of unknown function (DUF4594); pfam15266"
                     /db_xref="CDD:434586"
     Region          <305..483
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     CDS             1..531
                     /gene="CCDC9"
                     /coded_by="XM_047438584.1:485..2080"
                     /db_xref="GeneID:26093"
                     /db_xref="HGNC:HGNC:24560"
ORIGIN      
        1 maatldlksk eekdaeldkr iealrrknea lirryqeiee drkkaelegv avtaprkgrs
       61 vekenvaves eknlgpsrrs pgtprppgas kggrtppqqg gragmgrasr swegspgeqp
      121 rgggaggrgr rgrgrgsphl sgagdtsisd rkskeweerr rqniekmnee mekiaeyern
      181 qregvlepnp vrnflddprr rsgpleeser drreesrrhg rnwggpdfer vrcgleherq
      241 grraglgsag dmtlsmtgre rseylrwkqe rekidqerlq rhrkptgqwr rewdaektdg
      301 mfkdgpvpah epshryddqa warppkpptf geflsqhkae assrrrrkss rpqakaapra
      361 ysdhddrwet kegaaspape tpqptspets pketpmqppe ipapahrppe degeenegee
      421 deewedised eeeeeievee gdeeepaqdh qapeaaptgi pcseqahgvp fspeepllep
      481 qapgtpsspf sppsghqpvs dwgeevelns prtthlagal spgeawpfes v
//
LOCUS       XP_011526268             745 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-12 receptor subunit beta-1 isoform X1 [Homo sapiens].
ACCESSION   XP_011526268
VERSION     XP_011526268.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011527966.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..745
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..745
                     /product="interleukin-12 receptor subunit beta-1 isoform
                     X1"
                     /calculated_mol_wt=82188
     Region          498..588
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(579..580,582..583)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..745
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /coded_by="XM_011527966.3:52..2289"
                     /db_xref="GeneID:3594"
                     /db_xref="HGNC:HGNC:5971"
                     /db_xref="MIM:601604"
ORIGIN      
        1 mfvglfslls fnvfrsgdgv aeprrwqrgs pgavglyvdp meplvtwvvp llflfllsrq
       61 gaacrtsecc fqdppypdad sgslpgsasg prdlrcyris sdryecswqy egptagvshf
      121 lrcclssgrc cyfaagsatr lqfsdqagvs vlytvtlwve swarnqteks pevtlqlyns
      181 vkyepplgdi kvsklagqlr mewetpdnqv gaevqfrhrt psspwklgdc gpqdddtesc
      241 lcplemnvaq efqlrrrqlg sqgsswskws spvcvppvgl vliaenppqp qvrfsveqlg
      301 qdgrrrltlk eqptqlelpe gcqglapgte vtyrlqlhml scpckakatr tlhlgkmpyl
      361 sgaaynvavi ssnqfgpgln qtwhipadth tepvalnisv gtngttmywp araqsmtyci
      421 ewqpvgqdgg latcsltapq dpdpagmaty swsresgamg qekcyyitif asahpekltl
      481 wstvlstyhf ggnasaagtp hhvsvknhsl dsvsvdwaps llstcpgvlk eyvvrcrded
      541 skqvsehpvq ptetqvtlsg lragvaytvq vradtawlrg vwsqpqrfsi evqvsdwlif
      601 faslgsflsi llvgvlgylg lnraarhlcp plptpcassa iefpggketw qwinpvdfqe
      661 easlqealvv emswdkgert eplektelpe gapelaldte lsledgdrhe erlsqsqrlv
      721 ikhlwhtqpi psthmipyqi ptttp
//
LOCUS       XP_011510099             457 aa            linear   PRI 20-MAR-2023
DEFINITION  voltage-dependent L-type calcium channel subunit beta-4 isoform X3
            [Homo sapiens].
ACCESSION   XP_011510099
VERSION     XP_011510099.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011511797.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..457
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..457
                     /product="voltage-dependent L-type calcium channel subunit
                     beta-4 isoform X3"
                     /calculated_mol_wt=50562
     Region          50..91
                     /region_name="VGCC_beta4Aa_N"
                     /note="Voltage gated calcium channel subunit beta domain
                     4Aa N terminal; pfam12052"
                     /db_xref="CDD:432290"
     Region          91..158
                     /region_name="SH3_CACNB4"
                     /note="Src Homology 3 domain of Voltage-dependent L-type
                     calcium channel subunit beta4; cd12043"
                     /db_xref="CDD:212976"
     Site            order(101,103,106,117,135..136,152,154..155)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212976"
     Region          <219..335
                     /region_name="Guanylate_kin"
                     /note="Guanylate kinase; pfam00625"
                     /db_xref="CDD:395500"
     CDS             1..457
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /coded_by="XM_011511797.4:34..1407"
                     /db_xref="GeneID:785"
                     /db_xref="HGNC:HGNC:1404"
                     /db_xref="MIM:601949"
ORIGIN      
        1 mssssyakng tadgphspts qvargtttrr srlkrsdgst tstsfilrqg sadsytsrps
       61 dsdvsleedr eairqereqq aaiqleraks kpvafavktn vsycgalded vpvpstaisf
      121 dakdflhike kynndwwigr lvkegceigf ipsplrleni riqqeqkrgr fhggkssgns
      181 ssslgemvsg tfratptstd gahsslrcct vnasggvsga vterlraevq seierifela
      241 rslqlvvlda dtinhpaqli ktslapiivh vkvsspkvlq rliksrgksq skhlnvqlva
      301 adklaqcppe mfdvildenq ledacehlge yleaywrath ttsstpmtpl lgrnlgstal
      361 spyptaisgl qsqrmrhsnh stenspierr slmtsdenyh nerarksrnr lssssqhsrd
      421 hyplveedyp dsyqdtykph rnrgspggys hdsrhrl
//
LOCUS       XP_047296925            1591 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor TIAM1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047296925
VERSION     XP_047296925.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440969.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1591
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..1591
                     /product="rho guanine nucleotide exchange factor TIAM1
                     isoform X1"
                     /calculated_mol_wt=177378
     Region          432..558
                     /region_name="PH1_Tiam1_2"
                     /note="T-lymphoma invasion and metastasis 1 and 2
                     Pleckstrin Homology (PH) domain, N-terminal domain;
                     cd01230"
                     /db_xref="CDD:269937"
     Region          572..669
                     /region_name="Tiam_CC_Ex"
                     /note="T-lymphoma invasion and metastasis CC-Ex domain;
                     pfam18385"
                     /db_xref="CDD:408184"
     Region          766..839
                     /region_name="RBD"
                     /note="Raf-like Ras-binding domain; pfam02196"
                     /db_xref="CDD:426652"
     Region          846..925
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(857..860,862,911..912,915)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1044..1233
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; smart00325"
                     /db_xref="CDD:214619"
     Site            order(1047,1051,1157,1183..1184,1187..1188,1190..1191,
                     1194..1195,1198..1199,1202,1228,1232)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          1235..1406
                     /region_name="PH2_Tiam1_2"
                     /note="T-lymphoma invasion and metastasis 1 and 2
                     Pleckstrin Homology (PH) domain, C-terminal domain;
                     cd01255"
                     /db_xref="CDD:269957"
     CDS             1..1591
                     /gene="TIAM1"
                     /gene_synonym="NEDLDS; TIAM-1"
                     /coded_by="XM_047440969.1:774..5549"
                     /db_xref="GeneID:7074"
                     /db_xref="HGNC:HGNC:11805"
                     /db_xref="MIM:600687"
ORIGIN      
        1 mgnaesqhve hefygekhas lgrkhtsrsl rlshktrrtr hassgkvihr nsevstrsss
       61 tpsipqslae nglepfsqdg tledfgspiw vdrvdmglrp vsytdssvtp svdssivlta
      121 asvqsmpdte esrlygddat ylaeggrrqh sytsngptfm etasfkkkrs ksadiwreds
      181 lefslsdlsq ehltsneeil gsaeekdcee argmetrasp rqlstcqran slgdlyaqkn
      241 sgvtanggpg skfagycrnl vsdipnlanh kmppaaaeet ppysnyntlp crkshclseg
      301 atnpqishsn smqgrraktt qdvnagegse fadsgiegat tdtdllsrrs natnssyspt
      361 tgrafvgsds gssstgdaar qgvyenfrre lemsttnses leeagsahsd eqssgtlssp
      421 gqsdilltaa qgtvrkagal avknflvhkk nkkvesatrr kwkhywvslk gctlffyesd
      481 grsgidhnsi pkhavwvens ivqavpehpk kdfvfclsns lgdaflfqtt sqtelenwit
      541 aihsacatav arhhhkedtl rllkseikkl eqkidmdekm kkmgemqlss vtdskkkkti
      601 ldqifvweqn leqfqmdlfr frcylaslqg gelpnpkrll afasrptkva mgrlgifsvs
      661 sfhalvaart getgvrrrtq amsrsaskrr srfsslwgld ttskkkqgrp sinqvfgegt
      721 eavkkslegi fddivpdgkr ekevvlpnvh qhnpdcdiwv heyftpswfc lpnnqpaltv
      781 vrpgdtardt lelickthql dhsahylrlk flienkmqly vpqpeediye llykeieicp
      841 kvtqsihiek sdtaadtygf slssveedgi rrlyvnsvke tglaskkglk agdeileinn
      901 raadalnssm lkdflsqpsl gllvrtypel eegvellesp phrvdgpadl gesplaflts
      961 npghslcseq gssaetapee tegpdlessd etdhsskste qvaafcrslh emnpsdqsps
     1021 pqdstgpqla tmrqlsdadk lrkvicelle tertyvkdln clmerylkpl qketfltqde
     1081 ldvlfgnlte mvefqveflk tledgvrlvp dleklekvdq fkkvlfslgg sflyyadrfk
     1141 lysafcasht kvpkvlvkak tdtafkafld aqnpkqqhss tlesylikpi qrilkyplll
     1201 relfaltdae seehyhldva iktmnkvash inemqkihee fgavfdqlia eqtgekkeva
     1261 dlsmgdlllh ttviwlnppa slgkwkkepe laafvfktav vlvykdgskq kkklvgshrl
     1321 siyedwdpfr frhmipteal qvralasada eanavceivh vksesegrpe rvfhlccssp
     1381 esrkdflkav hsilrdkhrr qllkteslps sqqyvpfggk rlcalkgarp amsravsaps
     1441 kslgrrrrrl arnrftidsd avsasspeke sqqppgggdt drwveeqfdl aqyeeqddik
     1501 etdilsddde fcesvkgasv drdlqerlqa tsisqrergr ktldshasrm aqlkkqaals
     1561 gingglesas eeviwvrred fapsrklnte i
//
LOCUS       XP_047303880            1690 aa            linear   PRI 20-MAR-2023
DEFINITION  target of Nesh-SH3 isoform X43 [Homo sapiens].
ACCESSION   XP_047303880
VERSION     XP_047303880.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447924.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1690
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1690
                     /product="target of Nesh-SH3 isoform X43"
                     /calculated_mol_wt=185822
     Region          124..202
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Region          <382..893
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <661..1188
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <1071..>1307
                     /region_name="PRK10263"
                     /note="DNA translocase FtsK; Provisional"
                     /db_xref="CDD:236669"
     Region          1454..1545
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(1534..1535,1537..1538)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..1690
                     /gene="ABI3BP"
                     /gene_synonym="NESHBP; TARSH"
                     /coded_by="XM_047447924.1:17..5089"
                     /db_xref="GeneID:25890"
                     /db_xref="HGNC:HGNC:17265"
                     /db_xref="MIM:606279"
ORIGIN      
        1 mrggkcnmls slgclllcgs itlalgnaqk lpkgkrpnlk vhinttsdsi llkflrpspn
       61 vkleglllgy gsnvspnqyf plpaegkfte aivdaepkyl ivvrpappps qkkscsgktr
      121 srkplqlvvg tltpssvfls wgflinphhd wtlpshcpnd rfytiryrek dkekkwifqi
      181 cpatetiven lkpntvyefg vkdnveggiw skifnhktvv gskkvngkiq stydqdhtvp
      241 ayvprklipi tiikqviqnv thkdsakspe kaplggvilv hliipglnet tvklpaslmf
      301 eisdalktql aknetlalpa esktpeveki sarpttvtpe tvprstkptt ssaldvsett
      361 lvlskrtpet lqtilipqfe lplstlapks lpefpeaktp fpfekprgtl assekpwivp
      421 takisedskv lqpqtatydv fsspttsdep eisdsytats drildsippk tsrtleqpra
      481 tlapsetpfv pqkleiftsp emqpttpapq qttsipstpk rrprpkpprt kperttsagt
      541 itpkiskspe ptwttpapgk tqfislkpki plspevthtk papepqtllp sqstigpetp
      601 gtkpsttlap rktkrpgrrp rprprpkttp spevpkskpa lepatiqpep lvpttaskps
      661 erpktthrpd apqiqpgskp pkqllpkpqt taepdmpptk svsepvpfet eapsmtivpt
      721 tdiepvtvrt eatvttlapk tsqrtrtrrp rpkhkttprp etlqtkldfg pitpgtssap
      781 ttttkrtrrp hpkpkttphp evpqtklatk tskrtrpprp rpkttpspqa petkpvpatv
      841 lepvtlrpea sttlasktsq rtrrprlrtk ttprpeapes kpvptaelkp vtlrtetwvt
      901 tqapktsqrt rrprpktktt pspevpqtkl vpstdlepgt lrteapktmv vttvlepdtf
      961 rtkfpettla pktqrtrrpr prpkttsspe vpqnksvsvt gfepvvhstd apgttfalte
     1021 lqtlilkpvt spslemtesq pvsdvlesvt lstespketi apaktdyvyp takaplwpee
     1081 pktevvesit yvseppettl etsplpsqsi tlpspdepqt epapkqtpra ppkpktsprp
     1141 ripqtqpvpk vpqrvtakpk tspspevsyt tpapkdvllp hkpypevsqs epapletrgi
     1201 pfipmispsp sqeelqttle etdqstqepf ttkiprttel akttqaphrf yttvrprtsd
     1261 kphirpvlnr tttrptrpkp sgmpsgngvg tgvkqaprps gadrnvsvds thptkkpgtr
     1321 rpplpprpth prrkplppnn vtgkpgsagi issgpittpp lrstprptgt plerietdik
     1381 qptvpasgee lenitdfsss ptretdplgk prfkgphvry iqkpdnspcs itdsvkrfpk
     1441 eeategnats ppqnpptnlt vvtvegcpsf vildwekpln dtvteyevis rengsfsgkn
     1501 ksiqmtnqtf stvenlkpnt syefqvkpkn plgegpvsnt vafstesadp rvsepvsagr
     1561 daiwterpfn sdsyseckgk qyvkrtwykk fvgvqlcnsl rykiylsdsl tgkfynigdq
     1621 rghgedhcqf vdsfldgrtg qqltsdqlpi kegyfravrq epvqfgeigg htqinyvqwy
     1681 ecgttipgkw
//
LOCUS       XP_011532363             648 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor subfamily 2 group C member 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011532363
VERSION     XP_011532363.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534061.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..648
                     /product="nuclear receptor subfamily 2 group C member 2
                     isoform X1"
                     /calculated_mol_wt=70793
     Region          164..250
                     /region_name="NR_DBD_TR2_like"
                     /note="DNA-binding domain of the TR2 and TR4 (human
                     testicular receptor 2 and 4) is composed of two C4-type
                     zinc fingers; cd06967"
                     /db_xref="CDD:143525"
     Site            order(169,172,186,189,205,211,221,224)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143525"
     Site            order(179..181,187..188,190,192,195,198,218..219,222,225,
                     236,239)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143525"
     Region          413..634
                     /region_name="NR_LBD_TR2_like"
                     /note="The ligand binding domain of the orphan nuclear
                     receptors TR4 and TR2; cd06952"
                     /db_xref="CDD:132750"
     Site            order(437..438,442,476,480,483,497,524)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:132750"
     Site            order(447,450,454,459,464..465,467..468,471..472)
                     /site_type="active"
                     /note="putative coactivator recognition site [active]"
                     /db_xref="CDD:132750"
     CDS             1..648
                     /gene="NR2C2"
                     /gene_synonym="TAK1; TR4"
                     /coded_by="XM_011534061.4:349..2295"
                     /db_xref="GeneID:7182"
                     /db_xref="HGNC:HGNC:7972"
                     /db_xref="MIM:601426"
ORIGIN      
        1 matnmeglvq hrvgtqqvae vtrtqtsrpe spgmtspspr iqiistdsav aspqriqgse
       61 pasgplsvft slnkekivtd qqtgqkiqiv tavdasgspk qqfiltspdg agtgkvilas
      121 petssakqli fttsdnlvpg riqivtdsas verllgktdv qrpqvveycv vcgdkasgrh
      181 ygavscegck gffkrsvrkn ltyscrsnqd ciinkhhrnr cqfcrlkkcl emgmkmesvq
      241 serkpfdvqr ekpsncaast ekiyirkdlr spliatptfv adkdgarqtg lldpgmlvni
      301 qqpliredgt vllatdskae tsqgalgtla nvvtslanls eslnngdtse iqpedqsase
      361 itrafdtlak alnttdssss psladgidts gggsihvisr dqstpiieve gpllsdthvt
      421 fkltmpspmp eylnvhyice sasrllflsm hwarsipafq algqdcntsl vracwnelft
      481 lglaqcaqvm slstilaaiv nhlqnsiqed klsgdrikqv mehiwklqef cnsmakldid
      541 gyeyaylkai vlfspdhpgl tstsqiekfq ekaqmelqdy vqktysedty rlarilvrlp
      601 alrlmssnit eelfftglig nvsidsiipy ilkmetaeyn gqitgasl
//
LOCUS       XP_016863044             817 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 5 isoform X1 [Homo sapiens].
ACCESSION   XP_016863044
VERSION     XP_016863044.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017007555.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..817
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..817
                     /product="TBC1 domain family member 5 isoform X1"
                     /calculated_mol_wt=91085
     Region          79..381
                     /region_name="TBC"
                     /note="Domain in Tre-2, BUB2p, and Cdc16p. Probable
                     Rab-GAPs; smart00164"
                     /db_xref="CDD:214540"
     CDS             1..817
                     /gene="TBC1D5"
                     /coded_by="XM_017007555.3:551..3004"
                     /db_xref="GeneID:9779"
                     /db_xref="HGNC:HGNC:19166"
                     /db_xref="MIM:615740"
ORIGIN      
        1 myhslsetrh plqpeeqevg idplssysnk sggdsnkngr rtsstldseg tfnsyrkewe
       61 elfvnnnyla tirqkgingq lrssrfrsic wklflcvlpq dksqwisrie elrawysnik
      121 eihitnprkv vgqqdlminn plsqdegslw nkffqdkelr smieqdvkrt fpemqffqqe
      181 nvrkiltdvl fcyareneql lykqgmhell apivfvlhcd hqaflhases aqpseemktv
      241 lnpeylehda yavfsqlmet aepwfstfeh dgqkgketlm tpipfarpqd lgptiaivtk
      301 vnqiqdhllk khdielymhl nrleiapqiy glrwvrllfg refplqdllv vwdalfadgl
      361 slglvdyifv amllyirdal issnyqtclg llmhypfigd vhslilkalf lrdpkrnprp
      421 vtyqfhpnld yykargadlm nksrtnakga plninkvsns linfgrklis pamapgsagg
      481 pvpggnssss ssvviptrts aeapshhlqq qqqqqrlmks esmpvqlnkg dvvtgsdaqv
      541 svpvqtltdl qglsskniss spsveslpgg reftgsppss atkkdsffsn isrsrshskt
      601 mgrkeseeel eaqisflqgq lndldamcky cakvmdthlv niqdvilqen lekedqilvs
      661 laglkqikdi lkgslrfnqs qleaeeneqi tiadnhycss gqgqgrgqgq svqmsgaikq
      721 assetpgctd rgnsddfili skdddgssar gsfsgqaqpl rtlrstsgks qapvcsplvf
      781 sdplmgpasa sssnpssspd ddsskdsgft ivspldi
//
LOCUS       XP_011541410            1128 aa            linear   PRI 20-MAR-2023
DEFINITION  ras GTPase-activating-like protein IQGAP2 isoform X6 [Homo
            sapiens].
ACCESSION   XP_011541410
VERSION     XP_011541410.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011543108.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1128
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..1128
                     /product="ras GTPase-activating-like protein IQGAP2
                     isoform X6"
                     /calculated_mol_wt=129335
     Region          242..263
                     /region_name="IQ"
                     /note="Calmodulin-binding motif; smart00015"
                     /db_xref="CDD:197470"
     Region          <337..1128
                     /region_name="IQG1"
                     /note="Protein involved in regulation of cellular
                     morphogenesis/cytokinesis [Cell division and chromosome
                     partitioning / Signal transduction mechanisms]; COG5261"
                     /db_xref="CDD:227586"
     Region          469..827
                     /region_name="RasGAP_IQGAP2"
                     /note="Ras-GTPase Activating Domain of IQ motif containing
                     GTPase activating protein 2; cd05131"
                     /db_xref="CDD:213333"
     Site            order(513,544,546,548..549,552,555,559,651,659..660,
                     663..664,667,692,695..696,699,703,705,710..711)
                     /site_type="other"
                     /note="putative RAS interface [polypeptide binding]"
                     /db_xref="CDD:213333"
     CDS             1..1128
                     /gene="IQGAP2"
                     /coded_by="XM_011543108.3:54..3440"
                     /db_xref="GeneID:10788"
                     /db_xref="HGNC:HGNC:6111"
                     /db_xref="MIM:605401"
ORIGIN      
        1 mhslpgvvav gyineaideg nplrtletll lptanisdvd pahaqhyqdv lyhaksqklg
       61 dsesvskvlw ldeiqqavdd anvdkdrakq wvtlvvdvnq clegkkssdi lsvlksstsn
      121 andiipecad kyydalvkak elkservssd gswlklnlhk kydyyyntds kesswvtpes
      181 clykeswltg keiediieev tvgyireniw saseelllrf qatssgpilr eefearksfl
      241 heqeenvvki qafwkgykqr keymhrrqtf idntdsivki qswfrmatar ksylsrlqyf
      301 rdhnneivki qsllrankar ddyktlvgse nppltvirkf vylldqsdld fqeelevarl
      361 reevvtkira nqqlekdlnl mdikigllvk nritledvis hskklnkkkg gemeilnntd
      421 nqgikslske rrktletyqq lfyllqtnpl ylaklifqmp qnkstkfmdt viftlynyas
      481 nqreeylllk lfktaleeei kskvdqvqdi vtgnptvikm vvsfnrgarg qntlrqllap
      541 vvkeiiddks liintnpvev ykawvnqlet qtgeasklpy dvtteqalty pevknkleas
      601 ienlrrvtdk vlnsiissld llpyglryia kvlknsihek fpdatedell kivgnllyyr
      661 ymnpaivapd gfdiidmtag gqinsdqrrn lgsvakvlqh aasnklfege nehlssmnny
      721 lsetyqefrk yfkeacnvpe peekfnmdky tdlvtvskpv iyisieeiis thslllehqd
      781 aiapekndll sellgslgev ptvesflgeg avdpndpnka ntlsqlskte islvltskyd
      841 iedgeaidsr slmiktkkli idvirnqpgn tlteiletpa taqqevdhat dmvsramids
      901 rtpeemkhsq smiedaqlpl eqkkrkiqrn lrtleqtghv ssenkyqdil neiakdirnq
      961 riyrklrkae laklqqtlna lnkkaafyee qinyydtyik tcldnlkrkn trrsikldgk
     1021 gepkgakrak pvkytaaklh ekgvlldidd lqtnqfknvt fdiiatedvg ifdvrskflg
     1081 vemekvqlni qdllqmqyeg vavmkmfdkv kvnvnlliyl lnkkfygk
//
LOCUS       XP_011512266             178 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP synthase subunit C lysine N-methyltransferase isoform X2 [Homo
            sapiens].
ACCESSION   XP_011512266
VERSION     XP_011512266.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011513964.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..178
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..178
                     /product="ATP synthase subunit C lysine
                     N-methyltransferase isoform X2"
                     /calculated_mol_wt=19324
     Region          88..>123
                     /region_name="AdoMet_MTases"
                     /note="S-adenosylmethionine-dependent methyltransferases
                     (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes
                     that use S-adenosyl-L-methionine (SAM or AdoMet) as a
                     substrate for methyltransfer, creating the product
                     S-adenosyl-L-homocysteine (AdoHcy); cl17173"
                     /db_xref="CDD:450167"
     CDS             1..178
                     /gene="ATPSCKMT"
                     /gene_synonym="FAM173B; hFAM173B; JS-2"
                     /coded_by="XM_011513964.2:16..552"
                     /db_xref="GeneID:134145"
                     /db_xref="HGNC:HGNC:27029"
                     /db_xref="MIM:618568"
ORIGIN      
        1 meggggiple tlkeesqsrh vlpasfevns lqksnwgfll tglvggtlva vyavatpfvt
       61 palrkvclpf vpattkqien vvkmlrcrrg slvdigsgdg riviaaakkg ftavgyelnp
      121 wlvwysryra wregvhgsak fyisdlwkvt fsqysnvvif gvpqmlllst daavgeet
//
LOCUS       XP_016865305             497 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and death domain-containing protein 1B isoform X3
            [Homo sapiens].
ACCESSION   XP_016865305
VERSION     XP_016865305.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009816.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..497
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..497
                     /product="ankyrin repeat and death domain-containing
                     protein 1B isoform X3"
                     /calculated_mol_wt=55553
     Region          75..121
                     /region_name="Ank_4"
                     /note="Ankyrin repeats (many copies); pfam13637"
                     /db_xref="CDD:372654"
     Site            order(77..79,81..82,86,89,98,100,102,106..107,110..112,
                     114..115,119,122,131,133,135,139..140,143..145,147..148,
                     152,155,164)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          100..131
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          102..>357
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          133..164
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          201..234
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          237..267
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          270..300
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(271,275..276,279..281,283..284,288,291,300,302,304,
                     308..309,312..314,316..317,321,324,333,335,337,341..342,
                     345..347,349..350,354,357)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          302..333
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          409..479
                     /region_name="DD"
                     /note="Death Domain Superfamily of protein-protein
                     interaction domains; cl14633"
                     /db_xref="CDD:449339"
     CDS             1..497
                     /gene="ANKDD1B"
                     /coded_by="XM_017009816.2:183..1676"
                     /db_xref="GeneID:728780"
                     /db_xref="HGNC:HGNC:32525"
                     /db_xref="MIM:619920"
ORIGIN      
        1 mdpagrargq gatagglllr aaaaakglre dlwgaaalpw rslsripkre glgeedtava
       61 ghelllpner sfqnaaksnn ldlmeklfek kvninvvnnm nrtalhfavg rnhlsavdfl
      121 lkhkarvdva dkhgltvihl aawsgslevm lmlvkagadq raknqvgmwv tpgqkllphh
      181 crreevlrsl sisptpgslq dgmsalhfat qsnhvrivey liqdlhlkdl nqpdekgrkp
      241 fllaaerghv emiekltfln lhtsekdkgg ntalhlaakh ghspavqvll aqwqdinemn
      301 ekqqtplhva adrgnvelve tllkagcdlk avdkqgktal avasrsnhsl vvgmlikaer
      361 yyawreehhe sirdpstgft ltfkqdhsle trhirtllwd layhqlkane wqrlarswnf
      421 tddqiraiee qwsgnesfre hghralliwl hgtlmtqgdp akqlyeelvh agfpklaekt
      481 rhfksktdsn skkcvvs
//
LOCUS       XP_047275992             494 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA1-associated ATM activator 1 isoform X14 [Homo sapiens].
ACCESSION   XP_047275992
VERSION     XP_047275992.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420036.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..494
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..494
                     /product="BRCA1-associated ATM activator 1 isoform X14"
                     /calculated_mol_wt=51815
     CDS             1..494
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /coded_by="XM_047420036.1:55..1539"
                     /db_xref="GeneID:221927"
                     /db_xref="HGNC:HGNC:21701"
                     /db_xref="MIM:614506"
ORIGIN      
        1 mdpecaqllp alcavlvdpr qpvaddtcle klldwfktvt egessvvllq ehpclvells
       61 hvlkvqdlss gvlsfslrla gtfaaqencf qylqqgellp glfgepgplg ratwavptvr
      121 sgwiqglrsl aqhpsalrfl adhgavdtif slqgdsslfv asaasqllvh vlalsmrgga
      181 egqpclpggd wpacaqkimd hveeslcsaa tpkvtqalnv ltttfgrcqs pwtealwvrl
      241 sprvacller dpipaahsfv dlllcvarsp vfsssdgslw etvaralscl gpthmgplal
      301 gilklehcpq alrtqafqvl lqplacvlka tvqapgppgl ldgtaddatt vdtllaskss
      361 cagllcrtla hleelqplpq rpspwpqasl lgatvtvlrl cdgsaapass vgghlcgtla
      421 gcvrvqraal dflgtlsqgt gpqelvtqal avlleclesp gssptptlsa pgseeglpgh
      481 aqvapeltqd prll
//
LOCUS       XP_024302640            1207 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 136 isoform X1 [Homo
            sapiens].
ACCESSION   XP_024302640
VERSION     XP_024302640.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024446872.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1207
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1207
                     /product="coiled-coil domain-containing protein 136
                     isoform X1"
                     /calculated_mol_wt=139263
     Region          <84..451
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          155..797
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          <894..>1021
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1207
                     /gene="CCDC136"
                     /gene_synonym="NAG6"
                     /coded_by="XM_024446872.2:57..3680"
                     /db_xref="GeneID:64753"
                     /db_xref="HGNC:HGNC:22225"
                     /db_xref="MIM:611902"
ORIGIN      
        1 meagagagag aagwscpgpg ptvttlgsye asegcerkkg qrwgslerrg mqamegevll
       61 palyeeeeee eeeeeeveee eeqvqkggsv gslsvnkhrg lsltetelee lraqvlqlva
      121 eleetrelag qheddslelq gllederlas aqqaevftkq iqqlqgelrs lreeislleh
      181 ekeselkeie qelhlaqaei qslrqaaeds atehesdias lqedlcrmqn eledmerirg
      241 dyemeiaslr aememkssep sgslglsdys glqeelqelr eryhflneey ralqesnssl
      301 tgqladlese rtqraterwl qsqtlsmtsa esqtsemdfl epdpemqllr qqlrdaeeqm
      361 hgmknkcqel cceleelqhh rqvseeeqrr lqrelkcaqn evlrfqtshs vtqneelksr
      421 lctlqkkydt sqdeqnellk mqlqlqtelr qlkvmkstlv enqsekellc rlqklhlqhq
      481 nvtcekekll erqqqlqeel qcheaelqhl rdtvasfkes nekdtethaq lqemkqlyqa
      541 skdelerqkh mydqleqdll lcqlelkelk ashpipedkg kcankcdtll srltelqeky
      601 kasqkemgql qmeqcelled qrrmqeeqgq lqeelhrltl plpksglllk sqelltkled
      661 lcelqllyqg mqeeqkkliq nqdcvlkeql eiheelrrfk eshfqevlen pddsklakss
      721 kcnrnkqskl lmeqmqalqv mydagqakqe llqqeqgrll eerkrlqadl qlcleemqll
      781 qvqspsikms lesygksygs mvpsnencrk tydttvddne syyksytstq tssksflksy
      841 dsstsaseay gksycttsns sitykksygs tsssdtcqks fvssctdeep aepedmerfe
      901 emvvkvlikl qavqamyqis qeehsqlqeq mekllakqkd lkeeldacer efkecmecle
      961 kpmapqndkn eikelqtklr elqlqyqasm deqgrllvvq eqlegqlqcc qeelrqlrek
     1021 rpsvvkearg knanknmnkn angvkmkkvt kpcsdtsesd letrkkirrk mkrtkrkrrr
     1081 kktvkrrrmt ptlplkvpkk itpsdfprak rtclgcgslw yswllqlwlc mcyptcdsrs
     1141 qssaswsdgr pwpargqips ghhpqlwagh tvpepspyvp cvpissasvt qaekacgerl
     1201 tsisclv
//
LOCUS       XP_006716161             719 aa            linear   PRI 20-MAR-2023
DEFINITION  SRSF protein kinase 2 isoform X6 [Homo sapiens].
ACCESSION   XP_006716161
VERSION     XP_006716161.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006716098.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..719
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..719
                     /product="SRSF protein kinase 2 isoform X6"
                     /calculated_mol_wt=81044
     Region          68..>256
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(87..90,93,95,108,110,146,166..169,214,218..219,221)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     Region          <341..383
                     /region_name="2A1904"
                     /note="K+-dependent Na+/Ca+ exchanger; TIGR00927"
                     /db_xref="CDD:273344"
     Region          <504..717
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..719
                     /gene="SRPK2"
                     /gene_synonym="SFRSK2"
                     /coded_by="XM_006716098.4:182..2341"
                     /db_xref="GeneID:6733"
                     /db_xref="HGNC:HGNC:11306"
                     /db_xref="MIM:602980"
ORIGIN      
        1 msvnseksss serpepqqka plvppppppp pppppplpdp tppepeeeil gsddeeqedp
       61 adyckggyhp vkigdlfngr yhvirklgwg hfstvwlcwd mqgkrfvamk vvksaqhyte
      121 taldeikllk cvresdpsdp nkdmvvqlid dfkisgmngi hvcmvfevlg hhllkwiiks
      181 nyqglpvrcv ksiirqvlqg ldylhskcki ihtdikpeni lmcvddayvr rmaaeatewq
      241 kagapppsgs avstapqqkp igkisknkkk klkkkqkrqa ellekrlqei eelereaerk
      301 iieenitsaa psndqdgeyc pevklkttgl eeaaeaetak dngeaedqee kedaekenie
      361 kdeddvdqel anidptwies pktnghieng pfsleqqldd edddeedcpn peeynldepn
      421 aesdytysss yeqfngelpn grhkipesqf pefstslfsg slepvacgsv lsegsplteq
      481 eesspshdrs rtvsasstgd lpkaktraad llvnpldprn adkirvkiad lgnacwvhkh
      541 ftediqtrqy rsievligag ystpadiwst acmafelatg dylfephsge dysrdedhia
      601 hiiellgsip rhfalsgkys reffnrrdhi aliiellgkv prkyamlgky skefftrkge
      661 lrhitklkpw slfdvlveky gwphedaaqf tdflipmlem vpekrasage clrhpwlns
//
LOCUS       XP_047297863             781 aa            linear   PRI 20-MAR-2023
DEFINITION  integrator complex subunit 6-like isoform X7 [Homo sapiens].
ACCESSION   XP_047297863
VERSION     XP_047297863.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441907.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..781
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..781
                     /product="integrator complex subunit 6-like isoform X7"
                     /calculated_mol_wt=87605
     Region          696..758
                     /region_name="INT_SG_DDX_CT_C"
                     /note="INTS6/SAGE1/DDX26B/CT45 C-terminus; pfam15300"
                     /db_xref="CDD:434610"
     CDS             1..781
                     /gene="INTS6L"
                     /gene_synonym="DDX26B"
                     /coded_by="XM_047441907.1:202..2547"
                     /db_xref="GeneID:203522"
                     /db_xref="HGNC:HGNC:27334"
ORIGIN      
        1 mselknlqas glttlgqalr ssfdllnlnr lisgidnygq grnpffleps ilititdgnk
       61 ltstagvqee lhlplnsplp gseltkepfr wdqrlfalvl rlpgvastep eqlgsvptde
      121 saitqmcevt ggrsycvrtq rmlnqclesl vqkvqsgvvi nfektgpdpl pigedglmds
      181 srpsnsfaaq pwhschkliy vrpnsktgvp vghwpipesf wpdqnlpslp prtshpvvrf
      241 scvdcepmvi dklpfdkyel epspltqyil erksphtcwq vfvtssgkyn elgypfgylk
      301 asttltcvnl fvmpynypvl lpllddlfkv hklkpnlkwr qafdsylktl ppyyllplkk
      361 alrmmgapnl isdnldcgls ysvisylkkl sqqtkleser ilasvgkkpp qeigikvknh
      421 sgggmslthn knfrkllkei tgetalrlte lntkefagfq igllnkdlkp qtyrnaydip
      481 rrglldqltr mrsnllkthk fivgqdedsl hsvpvaqmgn yqeylktlas plreidpdqp
      541 krlhtfgnpf kqdkkgmmid eadefvagpq nkvkrpgepn spmsskrrrn atiihdghee
      601 kmengqitpd gflsksapse linmtgdlmp pnqvdslsdd ftslskdgli qkpgsnafvg
      661 gakncslsvd dqkdpvastl gampntlqit pamaqginad ikhqlmkevr kfgrkyerif
      721 illeevqgpl emkkqfveft ikeaarfkrr vliqylekvl ekinshhlhn nishinsrss
      781 c
//
LOCUS       XP_006724879            2079 aa            linear   PRI 20-MAR-2023
DEFINITION  host cell factor 1 isoform X5 [Homo sapiens].
ACCESSION   XP_006724879
VERSION     XP_006724879.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006724816.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2079
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..2079
                     /product="host cell factor 1 isoform X5"
                     /calculated_mol_wt=213275
     Region          <27..322
                     /region_name="PLN02193"
                     /note="nitrile-specifier protein"
                     /db_xref="CDD:177844"
     Region          33..80
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          84..134
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          137..196
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          200..253
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          255..319
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          319..>351
                     /region_name="Kelch_5"
                     /note="Kelch motif; pfam13854"
                     /db_xref="CDD:433528"
     Region          322..367
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          <466..771
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          <1128..1620
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <1900..1929
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(1918..1919,1921..1922)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1935..2040
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(1935,2013,2034)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(2035..2036,2038..2039)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..2079
                     /gene="HCFC1"
                     /gene_synonym="CFF; HCF; HCF-1; HCF1; HFC1; MAHCX; MRX3;
                     PPP1R89; VCAF; XLID3"
                     /coded_by="XM_006724816.4:979..7218"
                     /db_xref="GeneID:3054"
                     /db_xref="HGNC:HGNC:4839"
                     /db_xref="MIM:300019"
ORIGIN      
        1 masavspanl pavllqprwk rvvgwsgpvp rprhghrava ikelivvfgg gnegivdelh
       61 vyntatnqwf ipavrgdipp gcaaygfvcd gtrllvfggm veygkysndl yelqasrwew
      121 krlkaktpkn gpppcprlgh sfslvgnkcy lfgglandse dpknnipryl ndlyilelrp
      181 gsgvvawdip itygvlpppr eshtavvyte kdnkksklvi yggmsgcrlg dlwtldidtl
      241 twnkpslsgv aplprslhsa ttignkmyvf ggwvplvmdd vkvathekew kctntlacln
      301 ldtmawetil mdtlednipr araghcavai ntrlyiwsgr dgyrkawnnq vcckdlwyle
      361 tekpppparv qlvrantnsl evswgavata dsyllqlqky dipataatat sptpnpvpsv
      421 panppkspap aaaapavqpl tqvgitllpq aapapptttt iqvlptvpgs sisvptaart
      481 qgvpavlkvt gpqattgtpl vtmrpasqag kapvtvtslp agvrmvvptq saqgtvigss
      541 pqmsgmaala aaaaatqkip pssaptvlsv pagttivktm avtpgtttlp atvkvasspv
      601 mvsnpatrml ktaaaqvgts vssatntstr piitvhksgt vtvaqqaqvv ttvvggvtkt
      661 itlvkspisv pggsalisnl gkvmsvvqtk pvqtsavtgq astgpvtqii qtkgplpagt
      721 ilklvtsadg kpttiitttq asgagtkpti lgissvspst tkpgtttiik tipmsaiitq
      781 agatgvtssp gikspitiit tkvmtsgtga pakiitavpk iatghgqqgv tqvvlkgapg
      841 qpgtilrtvp mggvrlvtpv tvsavkpavt tlvvkgttgv ttlgtvtgtv stslagaggh
      901 stsaslatpi ttlgtiatls sqvinptait vsaaqttlta agglttptit mqpvsqptqv
      961 tlitapsgve aqpvhdlpvs ilasptteqp tatvtiadsg qgdvqpgtvt lvcsnppcet
     1021 hetgttntat ttvvanlggh pqptqvqfvc drqeaaaslv tstvgqqngs vvrvcsnppc
     1081 ethetgttnt attatsnmag qhgcsnppce thetgttnta ttamssvgan hqrdarraca
     1141 agtpaviris vatgaleaaq gsksqcqtrq tsatsttmtv matgapcsag pllgpsmare
     1201 pggrspafvq laplsskvrl sspsikdlpa grhshavsta amtrssvgag eprmapvces
     1261 lqggspsttv tvtaleallc psatvtqvcs nppcethetg ttntattsna gsaqrvcsnp
     1321 pcethetgtt htattatsng gtgqpeggqq ppagrpceth qttstgttms vsvgallpda
     1381 tsshrtvesg levaaapsvt pqagtallap fptqrvcsnp pcethetgtt htattvtsnm
     1441 ssnqdpppaa sdqgevestq gdsvnitsss aitttvsstl travttvtqs tpvpgpsvpk
     1501 issmtetapr alttevpipa kitvtiante tsdmpfsavd ilqppeelqv spgprqqlpp
     1561 rqllqsasta lmgesaevls asqtpelpaa vdlsstgeps sgqesagsav vatvvvqppp
     1621 ptqsevdqls lpqelmaeaq agtttlmvtg ltpeelavta aaeaaaqaaa teeaqalaiq
     1681 avlqaaqqav mgtgepmdts eaaatvtqae lghlsaegqe gqattipivl tqqelaalvq
     1741 qqqlqeaqaq qqhhhlptea lapadslndp aiesnclnel agtvpstval lpstatesla
     1801 psntfvapqp vvvaspaklq aaatltevan gieslgvkpd lppppskapm kkenqwfdvg
     1861 vikgtnvmvt hyflppddav psdddlgtvp dynqlkkqel qpgtaykfrv aginacgrgp
     1921 fseisafktc lpgfpgapca ikiskspdga hltweppsvt sgkiieysvy laiqssqagg
     1981 elksstpaql afmrvycgps psclvqsssl snahidyttk paiifriaar nekgygpatq
     2041 vrwlqetskd ssgtkpankr pmsspemksa pkkskadgq
//
LOCUS       XP_054184668             641 aa            linear   PRI 20-MAR-2023
DEFINITION  protein THEMIS isoform X4 [Homo sapiens].
ACCESSION   XP_054184668
VERSION     XP_054184668.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328693.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187556.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..641
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.33"
     Protein         1..641
                     /product="protein THEMIS isoform X4"
                     /calculated_mol_wt=73322
     CDS             1..641
                     /gene="THEMIS"
                     /gene_synonym="C6orf190; C6orf207; GASP; SPOT; TSEPA"
                     /coded_by="XM_054328693.1:318..2243"
                     /db_xref="GeneID:387357"
                     /db_xref="HGNC:HGNC:21569"
                     /db_xref="MIM:613607"
ORIGIN      
        1 malsleefvh sldlrtlprv leiqagiyle gsiyemfgne ccfstgevik itglkvkkii
       61 aeiceqiegc eslqpfelpm nfpglfkiva dktpyltmee itrtihigps rlghpcfyhq
      121 kdiklenlii kqgeqimlns veeidgeimv scavarnhqt hsfnlplsqe gefyeceder
      181 iytlkeivew kipknrtrtv nltdfsnkwd stnpfpkdfy gtlilkpvye iqgvmkfrkd
      241 iirilpsldv evkditdsyd anwflqllst edlfemtske fpivteviea pegnhlpqsi
      301 lqpgktivih kkyqasrila seirsnfpkr hfliptsykg kfkrrprefp taydleiaks
      361 ekeplhvvat kafhsphdkl ssvsvgdqfl vhqsettevl cegikkvvnv lacekilkks
      421 yeaallplym eggfvevihd kkqypiselc kqfrlpfnvk vsvrdlsiee dvlaatpglq
      481 leeditdsyl lisdfanpte cweipvgrln mtvqlvsnfs rdaepflvrt lveeiteeqy
      541 ymmrryessa shppprppkh psveetkltl ltlaeertvd lpkspkrhhv ditkklhpnq
      601 agldskvlig sqndlvdeek ersnrgatai aetfknekhq k
//
LOCUS       XP_054186990             396 aa            linear   PRI 20-MAR-2023
DEFINITION  decapping and exoribonuclease protein isoform X1 [Homo sapiens].
ACCESSION   XP_054186990
VERSION     XP_054186990.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331015.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..396
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..396
                     /product="decapping and exoribonuclease protein isoform
                     X1"
                     /calculated_mol_wt=44798
     CDS             1..396
                     /gene="DXO"
                     /gene_synonym="DOM3L; DOM3Z; NG6; RAI1"
                     /coded_by="XM_054331015.1:261..1451"
                     /db_xref="GeneID:1797"
                     /db_xref="HGNC:HGNC:2992"
                     /db_xref="MIM:605996"
ORIGIN      
        1 mdprgtkrga ektevaeprn klprpapslp tdpalysgpf pfyrrpselg cfsldaqrqy
       61 hgdaralryy sppptngpgp nfdlrdgypd ryqprdeevq erldhllcwl lehrgrlegg
      121 pgwlaeaivt wrghltkllt tpyerqegwq laasrfqgtl ylsevetpna raqrlarppl
      181 lrelmymgyk feqymcadkp gsspdpsgev ntnvafcsvl rsrlgshpll fsgevdctdp
      241 qapstqpptc yvelktskem hspgqwrsfy rhkllkwwaq sflpgvpnvv agfrnpdgfv
      301 sslktfptmk mfeyvrndrd gwnpsvcmnf caaflsfaqs tvvqddprlv hlfswepggp
      361 vtvsvhqdap yaflpiwyve amtqdlpspp ktpspk
//
LOCUS       XP_054188876             231 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 74B isoform X12 [Homo
            sapiens].
ACCESSION   XP_054188876
VERSION     XP_054188876.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332901.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791762) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..231
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.1"
     Protein         1..231
                     /product="coiled-coil domain-containing protein 74B
                     isoform X12"
                     /calculated_mol_wt=24676
     CDS             1..231
                     /gene="CCDC74B"
                     /coded_by="XM_054332901.1:117..812"
                     /db_xref="GeneID:91409"
                     /db_xref="HGNC:HGNC:25267"
ORIGIN      
        1 msgagvaagt rppssptpgs rrrrqrpsvg vqslrpqspq lrqsdpqkrn ldlekslqfl
       61 qqqhsemlak lheeiehlkr enkgepargp rpalppqahs tlplpqhrnt ainsstrlgs
      121 ggtqddlryk limnqtsqkk dgpsgnhlsr asaplgarwv cingvwvepg gpsparlkeg
      181 ssrthrpggk rgrlaggsad tvrspadsls tssfqsvksi snsavpgklg r
//
LOCUS       XP_054221104             151 aa            linear   PRI 20-MAR-2023
DEFINITION  ADP-ribosylation factor-like protein 5B isoform X1 [Homo sapiens].
ACCESSION   XP_054221104
VERSION     XP_054221104.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365129.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..151
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..151
                     /product="ADP-ribosylation factor-like protein 5B isoform
                     X1"
                     /calculated_mol_wt=16888
     CDS             1..151
                     /gene="ARL5B"
                     /gene_synonym="ARL8"
                     /coded_by="XM_054365129.1:208..663"
                     /db_xref="GeneID:221079"
                     /db_xref="HGNC:HGNC:23052"
                     /db_xref="MIM:608909"
ORIGIN      
        1 mglifaklws lfcnqehkvi ivgldnagkt tilyqflmne vvhtsptigs nveeivvknt
       61 hflmwdiggq eslrsswnty ysntedlrka avlifankqd mkgcmtaaei skyltlssik
      121 dhpwhiqscc altgeglcqg lewmtsrigv r
//
LOCUS       XP_054226548             578 aa            linear   PRI 20-MAR-2023
DEFINITION  CD44 antigen isoform X15 [Homo sapiens].
ACCESSION   XP_054226548
VERSION     XP_054226548.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370573.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..578
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..578
                     /product="CD44 antigen isoform X15"
                     /calculated_mol_wt=62810
     CDS             1..578
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /coded_by="XM_054370573.1:134..1870"
                     /db_xref="GeneID:960"
                     /db_xref="HGNC:HGNC:1681"
                     /db_xref="MIM:107269"
ORIGIN      
        1 mdkfwwhaaw glclvplsla qidlnitcrf agvfhvekng rysisrteaa dlckafnstl
       61 ptmaqmekal sigfetcryg fieghvvipr ihpnsicaan ntgvyiltsn tsqydtycfn
      121 asappeedct svtdlpnafd gpititivnr dgtryvqkge yrtnpediyp snptdddvss
      181 gssserssts ggyifytfst vhpipdedsp witdstdrip attlmstsat atetatkrqe
      241 twdwfswlfl psesknhlht ttqmagtssn tisagwepne enederdrhl sfsgsgiddd
      301 edfisstnmd sshsttlqpt anpntglved ldrtgplsmt tqqsnsqsfs tshegleedk
      361 dhpttstlts snrndvtggr rdpnhsegst tllegytshy phtkesrtfi pvtsaktgsf
      421 gvtavtvgds nsnvnrslsg dqdtfhpsgg shtthgsesd ghshgsqegg anttsgpirt
      481 pqipewliil asllalalil avciavnsrr rcgqkkklvi nsgngavedr kpsglngeas
      541 ksqemvhlvn kessetpdqf mtadetrnlq nvdmkigv
//
LOCUS       XP_054228105            1184 aa            linear   PRI 20-MAR-2023
DEFINITION  plasma membrane calcium-transporting ATPase 1 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054228105
VERSION     XP_054228105.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372130.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1184
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1184
                     /product="plasma membrane calcium-transporting ATPase 1
                     isoform X6"
                     /calculated_mol_wt=130486
     CDS             1..1184
                     /gene="ATP2B1"
                     /gene_synonym="MRD66; PMCA1; PMCA1kb"
                     /coded_by="XM_054372130.1:11664..15218"
                     /db_xref="GeneID:490"
                     /db_xref="HGNC:HGNC:814"
                     /db_xref="MIM:108731"
ORIGIN      
        1 mgdmannsva ysgvknslke anhdgdfgit laelralmel rstdalrkiq esygdvygic
       61 tklktspneg lsgnpadler reavfgknfi ppkkpktflq lvwealqdvt liileiaaiv
      121 slglsfyqpp egdnalcgev svgeeegege tgwiegaail lsvvcvvlvt afndwskekq
      181 frglqsrieq eqkftvirgg qviqipvadi tvgdiaqvky gdllpadgil iqgndlkide
      241 ssltgesdhv kksldkdpll lsgthvmegs grmvvtavgv nsqtgiiftl lgaggeeeek
      301 kdekkkekkn kkqdgaienr nkakaqdgaa memqplksee ggdgdekdkk kanlpkkeks
      361 vlqgkltkla vqigkagllm saitviilvl yfvidtfwvq krpwlaectp iyiqyfvkff
      421 iigvtvlvva vpeglplavt islaysvkkm mkdnnlvrhl dacetmgnat aicsdktgtl
      481 tmnrmtvvqa yinekhykkv pepeaippni lsylvtgisv ncaytskilp pekegglprh
      541 vgnktecall gllldlkrdy qdvrneipee alykvytfns vrksmstvlk nsdgsyrifs
      601 kgaseiilkk cfkilsange akvfrprdrd divktviepm aseglrticl afrdfpagep
      661 epewdnendi vtgltciavv giedpvrpev pdaikkcqra gitvrmvtgd nintaraiat
      721 kcgilhpged flclegkdfn rrirnekgei eqeridkiwp klrvlarssp tdkhtlvkgi
      781 idstvsdqrq vvavtgdgtn dgpalkkadv gfamgiagtd vakeasdiil tddnftsivk
      841 avmwgrnvyd siskflqfql tvnvvaviva ftgacitqds plkavqmlwv nlimdtlasl
      901 alatepptes lllrkpygrn kplisrtmmk nilghafyql vvvftllfag ekffdidsgr
      961 naplhappse hytivfntfv lmqlfneina rkihgernvf egifnnaifc tivlgtfvvq
     1021 listiptsrl kflkeaghgt qkeeipeeel aedveeidha erelrrgqil wfrglnriqt
     1081 qirvvnafrs slyeglekpe srssihnfmt hpefriedse phipliddtd aeddaptkrn
     1141 sspppspnkn nnavdsgihl tiemnksats sspgsplhsl etsl
//
LOCUS       XP_054229829             861 aa            linear   PRI 20-MAR-2023
DEFINITION  piwi-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054229829
VERSION     XP_054229829.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373854.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 11% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..861
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..861
                     /product="piwi-like protein 1 isoform X1"
                     /calculated_mol_wt=98473
     CDS             1..861
                     /gene="PIWIL1"
                     /gene_synonym="CT80.1; HIWI; MIWI; PIWI"
                     /coded_by="XM_054373854.1:154..2739"
                     /db_xref="GeneID:9271"
                     /db_xref="HGNC:HGNC:9007"
                     /db_xref="MIM:605571"
ORIGIN      
        1 mtgrararar grargqetaq lvgstasqqp gyiqprpqpp paegelfgrg rqrgtaggta
       61 ksqglqisag fqelslaerg grrrdfhdlg vntrqnldhv kesktgssgi ivrlstnhfr
      121 ltsrpqwaly qyhidynplm earrlrsall fqhedligkc hafdgtilfl pkrlqqkvte
      181 vfsktrnged vrititltne lpptsptclq fyniifrrll kimnlqqigr nyynpndpid
      241 ipshrlviwp gfttsilqye nsimlctdvs hkvlrsetvl dfmfnfyhqt eehkfqeqvs
      301 keliglvvlt kynnktyrvd didwdqnpks tfkkadgsev sfleyyrkqy nqeitdlkqp
      361 vlvsqpkrrr gpggtlpgpa mlipelcylt gltdkmrndf nvmkdlavht rltpeqrqre
      421 vgrlidyihk ndnvqrelrd wglsfdsnll sfsgrilqte kihqggktfd ynpqfadwsk
      481 etrgaplisv kpldnwlliy trrnyeaans liqnlfkvtp amgmqmrkai mievddrtea
      541 ylrvlqqkvt adtqivvcll ssnrkdkyda ikkylctdcp tpsqcvvart lgkqqtvmai
      601 atkialqmnc kmggelwrvd iplklvmivg idcyhdmtag rrsiagfvas inegmtrwfs
      661 rcifqdrgqe lvdglkvclq aalrawnscn eympsriivy rdgvgdgqlk tlvnyevpqf
      721 ldclksigrg ynprltvivv kkrvntrffa qsggrlqnpl pgtvidvevt rpewydffiv
      781 sqavrsgsvs pthynviydn sglkpdhiqr ltyklchiyy nwpgvirvpa pcqyahklaf
      841 lvgqsihrep nlslsnrlyy l
//
LOCUS       XP_054231385             350 aa            linear   PRI 20-MAR-2023
DEFINITION  mitochondrial basic amino acids transporter isoform X1 [Homo
            sapiens].
ACCESSION   XP_054231385
VERSION     XP_054231385.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375410.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..350
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..350
                     /product="mitochondrial basic amino acids transporter
                     isoform X1"
                     /calculated_mol_wt=37218
     CDS             1..350
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /coded_by="XM_054375410.1:959..2011"
                     /db_xref="GeneID:123096"
                     /db_xref="HGNC:HGNC:20116"
                     /db_xref="MIM:615064"
ORIGIN      
        1 mppapatqts qprraaacrw dtsaewdrcw lglgmshayp psgredsrgs wdlpaaptgv
       61 agvlvghpfd tvkvrlqvqs vekpqyrgtl hcfksiikqe svlglykglg splmgltfin
      121 alvfgvqgnt lralghdspl nqflagaaag aiqcviccpm elaktrlqlq dagpartykg
      181 sldclaqiyg heglrgvnrg mvstllretp sfgvyfltyd altralgcep gdrllvpkll
      241 laggtsgivs wlstypvdvv ksrlqadglr gapryrgild cvhqsyraeg wrvftrglas
      301 tllrafpvna atfatvtvvl tyargeeagp egeavpaapa gpalaqpssl
//
LOCUS       XP_054231828              89 aa            linear   PRI 20-MAR-2023
DEFINITION  mitochondrial import inner membrane translocase subunit Tim9
            isoform X1 [Homo sapiens].
ACCESSION   XP_054231828
VERSION     XP_054231828.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375853.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..89
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..89
                     /product="mitochondrial import inner membrane translocase
                     subunit Tim9 isoform X1"
                     /calculated_mol_wt=10247
     CDS             1..89
                     /gene="TIMM9"
                     /gene_synonym="TIM9; TIM9A"
                     /coded_by="XM_054375853.1:356..625"
                     /db_xref="GeneID:26520"
                     /db_xref="HGNC:HGNC:11819"
                     /db_xref="MIM:607384"
ORIGIN      
        1 maaqipesdq ikqfkeflgt ynkltetcfl dcvkdfttre vkpeettcse hclqkylkmt
       61 qrismrfqey hiqqnealaa kagllgqpr
//
LOCUS       XP_054231889             511 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor IIIB 90 kDa subunit isoform X7 [Homo sapiens].
ACCESSION   XP_054231889
VERSION     XP_054231889.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375914.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..511
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..511
                     /product="transcription factor IIIB 90 kDa subunit isoform
                     X7"
                     /calculated_mol_wt=55730
     CDS             1..511
                     /gene="BRF1"
                     /gene_synonym="BRF; BRF-1; CFDS; GTF3B; hBRF; HEL-S-76p;
                     TAF3B2; TAF3C; TAFIII90; TF3B90; TFIIIB90"
                     /coded_by="XM_054375914.1:430..1965"
                     /db_xref="GeneID:2972"
                     /db_xref="HGNC:HGNC:11551"
                     /db_xref="MIM:604902"
ORIGIN      
        1 mavsrhltrg rkmahviaac lylvcrtegt phmlldlsdl lqvnvyvlgk tflllarelc
       61 inapaiallv aarmhdfrrt vkevisvvkv cestlrkrlt efedtptsql tidefmkidl
      121 eeecdppsyt agqrklrmkq leqvlskkle evegeissyq daieielens rpkakgglas
      181 lakdgstedt asslcgeedt edeeleaaas hlnkdlyrel lggapgssea agspewggrp
      241 palgslldpl ptaaslgisd sirecissqs sdpnasgdge ldlsgiddle idryilnese
      301 arvkaelwmr enaeylreqr ekeariakek elgiykehkp kksckrrepi qastareaie
      361 kmleqkkiss kinysvlrgl ssagggsphr edaqpehsas arklsrrrtp asrsgadpvt
      421 svgkrlrplv stqpakkvat geallpsspt lgaeparpqa vlvesgpvsy hadeeadeee
      481 pdeedgepcv salqmmgsnd ygcdgdeddg y
//
LOCUS       XP_054235718             230 aa            linear   PRI 20-MAR-2023
DEFINITION  protein-lysine N-methyltransferase EEF2KMT isoform X2 [Homo
            sapiens].
ACCESSION   XP_054235718
VERSION     XP_054235718.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379743.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..230
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..230
                     /product="protein-lysine N-methyltransferase EEF2KMT
                     isoform X2"
                     /calculated_mol_wt=25275
     CDS             1..230
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /coded_by="XM_054379743.1:350..1042"
                     /db_xref="GeneID:196483"
                     /db_xref="HGNC:HGNC:32221"
                     /db_xref="MIM:615263"
ORIGIN      
        1 makestqghr syllpsggsv tlsestaiis ygttglvtwd aalylaewai enpavftnrt
       61 vlelgsgagl tglaickmcr prayifsdch srvleqlrgn vllnglslea ditakldspr
      121 vtvaqldwdv atvhqlsafq pdvviaadvl ycpeaimslv gvlrrlaacr ehqrapevyv
      181 aftvrnpetc qlfttelgra girweveprh eqklfpyeeh lemamlnltl
//
LOCUS       XP_054175224             468 aa            linear   PRI 20-MAR-2023
DEFINITION  katanin p60 ATPase-containing subunit A-like 2 isoform X7 [Homo
            sapiens].
ACCESSION   XP_054175224
VERSION     XP_054175224.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319249.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..468
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..468
                     /product="katanin p60 ATPase-containing subunit A-like 2
                     isoform X7"
                     /calculated_mol_wt=52828
     CDS             1..468
                     /gene="KATNAL2"
                     /coded_by="XM_054319249.1:494..1900"
                     /db_xref="GeneID:83473"
                     /db_xref="HGNC:HGNC:25387"
                     /db_xref="MIM:614697"
ORIGIN      
        1 mkkieqrktr pcfstsnenr vlaqclmels yqtlkfthqa reacemrtea rrknllilis
       61 hyltqegyid tanaleqetk lglrrfevcd nidletilme yesyyfvkfq kypkivkkss
      121 dtaennlpqr srgktrrmmn dscqnlpkin qqrprsktta gktgdtksln kehpnqevvd
      181 ntrlesanfg lhisrirkds geenahprrg qiidfqgllt daikgatsel alntfdhnpd
      241 pserllkpls afigmnsemr elaavvsrdi ylhnpnikwn diigldaakq lvkeavvypi
      301 rypqlftgil spwkglllyg ppgtgktlla kavatecktt ffnisastiv skwrgdsekl
      361 vrvlfelary hapstiflde lesvmsqrgt asggehegsl rmktellvqm dglarsedlv
      421 fvlaasnlpw kklsslpaik vlivpsldqh fsksslpqvs khcaknei
//
LOCUS       XP_054200595             528 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear body protein SP140-like protein isoform X6 [Homo sapiens].
ACCESSION   XP_054200595
VERSION     XP_054200595.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344620.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..528
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..528
                     /product="nuclear body protein SP140-like protein isoform
                     X6"
                     /calculated_mol_wt=61249
     CDS             1..528
                     /gene="SP140L"
                     /coded_by="XM_054344620.1:78..1664"
                     /db_xref="GeneID:93349"
                     /db_xref="HGNC:HGNC:25105"
                     /db_xref="MIM:617747"
ORIGIN      
        1 magggsdlst rlftedqdvd eglvydtvfk hfkrhkleis naikktfpfl eglrdrelit
       61 nkmfedseds crnlvpvqrv vynvlselek tfnlsvleal fsevnmqeyp dlihiyksfk
      121 naiqdklsfq esdrkereer pdiklslkqe rpacenekcs yvmcfsgevp espearkesd
      181 qacgkmdtvd iannstlgkp krkrrkkkgh gwsrmgtrtq knnqqndnsk adgqlvssek
      241 kanmnlkdls kirgrkrgkp gthftqsdra pqkrvrsrgt lakciqtedg kwftpmefei
      301 kggyarsknw rlsvrcggwp lrrlmeegsl pnppriyyrn kkrilksqnn ssvdpcmrnl
      361 decevcrdgg elfccdtcsr vfhedchipp vesekmkesp gsqqccqese vlerqmcpee
      421 qlkceflllk vyccsessff akipyyyyir eacqglkepm wldkikkrln ehgypqvegf
      481 vqdmrlifqn hrasykykdf gqmglrleae fekdfkevfa iqetngns
//
LOCUS       XP_054180336             288 aa            linear   PRI 20-MAR-2023
DEFINITION  lebercilin-like protein isoform X5 [Homo sapiens].
ACCESSION   XP_054180336
VERSION     XP_054180336.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324361.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..288
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..288
                     /product="lebercilin-like protein isoform X5"
                     /calculated_mol_wt=32970
     CDS             1..288
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /coded_by="XM_054324361.1:550..1416"
                     /db_xref="GeneID:150082"
                     /db_xref="HGNC:HGNC:1255"
ORIGIN      
        1 msladltktn idehffsval ennrrsaack rspgtgdfsr nsnasnksvd ysrsqcscgs
       61 lssqydysed flcdcsekai nrnylkqpvv kekekkkynv skisqskgqk eisvekkhtw
      121 naslfnsqih miaqrrdama hrilsarlhk ikglknelad mhhkleailt enqflkqlql
      181 rhlkaigkye nsqnnlpqim akhqnevknl rqllrksqek ertlsrklre tdsqllktkd
      241 ilqalqklse dknlaereel thklsiittk mdandkkiqv cisgaqtv
//
LOCUS       XP_054201882             659 aa            linear   PRI 20-MAR-2023
DEFINITION  calpain-7 isoform X1 [Homo sapiens].
ACCESSION   XP_054201882
VERSION     XP_054201882.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345907.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..659
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..659
                     /product="calpain-7 isoform X1"
                     /calculated_mol_wt=75481
     CDS             1..659
                     /gene="CAPN7"
                     /gene_synonym="CALPAIN7; PALBH"
                     /coded_by="XM_054345907.1:251..2230"
                     /db_xref="GeneID:23473"
                     /db_xref="HGNC:HGNC:1484"
                     /db_xref="MIM:606400"
ORIGIN      
        1 mdatalerda vqfarlavqr dhegryseav fyykeaaqal iyaemagssl eniqekitey
       61 lervqalhsa vqsksadplk skhqldlera hflvtqafde dekenvedai elyteavdlc
      121 lktsyetadk vlqnklkqla rqaldraeal sepltkpvgk isstsvkpkp ppvrahfplg
      181 anpflerpqs fispqscdaq gqrytaeeie vlrttsking ieyvpfmnvd lrerfaypmp
      241 fcdrwgklpl spkqkttfsk wvrpedltnn ptmiytvssf sikqtivsdc sfvaslaisa
      301 ayerrfnkkl itgiiypqnk dgepeynpcg kymvklhlng vprkntykln isnlkiqntp
      361 viiddqlpvd hkgellcsys nnkselwvsl iekaymkvmg gydfpgsnsn idlhaltgwi
      421 periamhsds qtfskdnsfr mlyqrfhkgd vlitastgmm teaegekwgl vpthayavld
      481 irefkglrfi qlknpwshlr wkgrysendv knwtpelqky lnfdprtaqk idngifwisw
      541 ddlcqyydvi ylswnpglfk estcihstwd akqgpvkday slannpqykl evqcpqggaa
      601 vwvllsrhit dkddfannre fitmvvyktd gkkvyypgif smqlyffkds ftihliktd
//
LOCUS       XP_054205834             264 aa            linear   PRI 20-MAR-2023
DEFINITION  annexin A3 isoform X1 [Homo sapiens].
ACCESSION   XP_054205834
VERSION     XP_054205834.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349859.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..264
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..264
                     /product="annexin A3 isoform X1"
                     /calculated_mol_wt=29702
     CDS             1..264
                     /gene="ANXA3"
                     /gene_synonym="ANX3"
                     /coded_by="XM_054349859.1:129..923"
                     /db_xref="GeneID:306"
                     /db_xref="HGNC:HGNC:541"
                     /db_xref="MIM:106490"
ORIGIN      
        1 masiwvghrg tvrdypdfsp svdaeaiqka irgigtdekm lisiltersn aqrqlivkey
       61 qaaygkelkd dlkgdlsghf ehlmvalvtp pavfdakqlk ksmkgagtne dalieilttr
      121 tsrqmkdisq ayytvykksl gddissetsg dfrkalltla dgrrdeslkv dehlakqdaq
      181 ilykagenrw gtdedkftei lclrsfpqlk ltfdeyrnis qkdivdsikg elsghfedll
      241 laidlptlhi sytrnpiqws thsf
//
LOCUS       XP_054214178             424 aa            linear   PRI 20-MAR-2023
DEFINITION  alkylglycerol monooxygenase isoform X4 [Homo sapiens].
ACCESSION   XP_054214178
VERSION     XP_054214178.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358203.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..424
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..424
                     /product="alkylglycerol monooxygenase isoform X4"
                     /calculated_mol_wt=48959
     CDS             1..424
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /coded_by="XM_054358203.1:171..1445"
                     /db_xref="GeneID:392636"
                     /db_xref="HGNC:HGNC:33784"
                     /db_xref="MIM:613738"
ORIGIN      
        1 mknpeaqqdv svsqgfrmlf ytmkpsetsf qtleevpdyv kkatpffisl mllelvvswi
       61 lkgkppgrld daltsisagv lsrlpslffr sieltsyiyi wenyrlfnlp wdspwtwysa
      121 flgvdfgyyw fhrmahevni mwaghqthhs sedynlstal rqsvlqiyts wifysplalf
      181 ippsvyavhl qfnllyqfwi htevinnlgp lelilntpsh hrvhhgrnry cidknyagvl
      241 iiwdkifgtf eaenekvvyg lthpintfep ikvqfhhlfs iwttfwatpg ffnkfsvifk
      301 gpgwgpgkpr lglseeipev tgkevpfsss ssqllkiytv vqfalmlafy eetfadtaal
      361 sqvtlllrvc fiiltltsig flldqrpkaa imetlrclmf lmlyrfghlk plvpslssaf
      421 eflf
//
LOCUS       XP_054214320             370 aa            linear   PRI 20-MAR-2023
DEFINITION  5'-AMP-activated protein kinase subunit gamma-2 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054214320
VERSION     XP_054214320.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358345.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..370
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..370
                     /product="5'-AMP-activated protein kinase subunit gamma-2
                     isoform X6"
                     /calculated_mol_wt=41833
     CDS             1..370
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /coded_by="XM_054358345.1:195..1307"
                     /db_xref="GeneID:51422"
                     /db_xref="HGNC:HGNC:9386"
                     /db_xref="MIM:602743"
ORIGIN      
        1 mtavedsesg vymrfmrshk cydivptssk lvvfdttlqv kkaffalvan gvraaplwes
       61 kkqsfvgmlt itdfinilhr yykspmvqiy eleehkietw relylqetfk plvnispdas
      121 lfdavyslik nkihrlpvid pisgnalyil thkrilkflq lfmsdmpkpa fmkqnldelg
      181 igtyhniafi hpdtpiikal nifverrisa lpvvdesgkv vdiyskfdvi nlaaektynn
      241 lditvtqalq hrsqyfegvv kcnkleilet ivdrivraev hrlvvvnead sivgiislsd
      301 ilqaliltpa gkmlvsdlch rrlgrvggrt gsaafkpsfl hpptdqgfey itlkpfsfsl
      361 qlgslsvlre
//
LOCUS       NP_001350768             180 aa            linear   PRI 18-DEC-2022
DEFINITION  ankyrin repeat domain-containing protein 54 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001350768 XP_016884080
VERSION     NP_001350768.1
DBSOURCE    REFSEQ: accession NM_001363839.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 180)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 180)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 180)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (residues 1 to 180)
  AUTHORS   Gustafsson MO, Mohammad DK, Ylosmaki E, Choi H, Shrestha S, Wang Q,
            Nore BF, Saksela K and Smith CI.
  TITLE     ANKRD54 preferentially selects Bruton's Tyrosine Kinase (BTK) from
            a Human Src-Homology 3 (SH3) domain library
  JOURNAL   PLoS One 12 (4), e0174909 (2017)
   PUBMED   28369144
  REMARK    GeneRIF: the results show that the interaction between BTK and
            ANKRD54 is highly selective, since it was also identified in a
            screen using human SH3-domainome. A novel finding is that BTK not
            only binds to ANKRD54, but stands out as the preferred interactor,
            being highly dominant over all other human SH3-domains.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 180)
  AUTHORS   Gustafsson MO, Hussain A, Mohammad DK, Mohamed AJ, Nguyen V,
            Metalnikov P, Colwill K, Pawson T, Smith CI and Nore BF.
  TITLE     Regulation of nucleocytoplasmic shuttling of Bruton's tyrosine
            kinase (Btk) through a novel SH3-dependent interaction with ankyrin
            repeat domain 54 (ANKRD54)
  JOURNAL   Mol Cell Biol 32 (13), 2440-2453 (2012)
   PUBMED   22527282
  REMARK    GeneRIF: Liar is the first protein identified that specifically
            influences the nucleocytoplasmic shuttling of Btk and Txk and
            belongs to a rare group of known proteins carrying out this
            activity in a Crm1-dependent manner.
REFERENCE   6  (residues 1 to 180)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   7  (residues 1 to 180)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Z97630.11, DB449700.1, R59897.1 and BX368923.2.
            On Jun 3, 2018 this sequence version replaced XP_016884080.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.203529.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..180
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     Protein         1..180
                     /product="ankyrin repeat domain-containing protein 54
                     isoform 3"
                     /note="ankyrin repeat domain-containing protein 54;
                     lyn-interacting ankyrin repeat protein"
                     /calculated_mol_wt=20025
     Region          <9..>96
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          22..53
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          <34..180
                     /region_name="PLN03192"
                     /note="Voltage-dependent potassium channel; Provisional"
                     /db_xref="CDD:215625"
     Region          55..86
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..180
                     /gene="ANKRD54"
                     /gene_synonym="LIAR"
                     /coded_by="NM_001363839.1:260..802"
                     /note="isoform 3 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS87023.1"
                     /db_xref="GeneID:129138"
                     /db_xref="HGNC:HGNC:25185"
                     /db_xref="MIM:613383"
ORIGIN      
        1 mpmmwkqqll edgadpcaad dkgrtalhfa scngndqivq llldhgadpn qrdglgntpl
       61 hlaactnhvp vittllrgga rvdaldragr tplhlakskl nilqeghaqc leavrlevkq
      121 iihmlreyle rlgqheqrer lddlctrlqm tstkeqvdev tdllasftsl slqmqsmekr
//
LOCUS       NP_001005470             309 aa            linear   PRI 23-DEC-2022
DEFINITION  olfactory receptor 4B1 [Homo sapiens].
ACCESSION   NP_001005470 XP_497275
VERSION     NP_001005470.1
DBSOURCE    REFSEQ: accession NM_001005470.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 309)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (residues 1 to 309)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC026975.5.
            On Oct 6, 2004 this sequence version replaced XP_497275.1.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309562.3/ ENSP00000311605.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..309
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..309
                     /product="olfactory receptor 4B1"
                     /note="olfactory receptor OR11-106"
                     /calculated_mol_wt=34325
     Site            6
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NGF8.1)"
     Region          24..289
                     /region_name="7tmA_OR4A-like"
                     /note="olfactory receptor 4A and related proteins, member
                     of the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15939"
                     /db_xref="CDD:320605"
     Region          24..50
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320605"
     Site            24..47
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF8.1)"
     Site            56..77
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF8.1)"
     Region          57..83
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320605"
     Site            order(79,82..83,95..100,102..103,106,151,153..157,193,
                     196..198,200..202,204..205,249,252..253,255..256,259,
                     263..264,266..268,271,274..275)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320605"
     Region          95..125
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320605"
     Site            99..118
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF8.1)"
     Region          138..159
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320605"
     Site            138..156
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF8.1)"
     Region          193..223
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320605"
     Site            194..217
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF8.1)"
     Region          229..259
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320605"
     Site            234..256
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF8.1)"
     Region          264..289
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320605"
     Site            268..287
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF8.1)"
     CDS             1..309
                     /gene="OR4B1"
                     /gene_synonym="OR11-106; OST208"
                     /coded_by="NM_001005470.1:1..930"
                     /db_xref="CCDS:CCDS31485.1"
                     /db_xref="GeneID:119765"
                     /db_xref="HGNC:HGNC:8290"
ORIGIN      
        1 mastsnvtel iftglfqdpa vqsvcfvvfl pvylatvvgn glivltvsis ksldspmyff
       61 lsclslveis ysstiapkfi idllakikti slegcltqif ffhffgvaei llivvmaydc
      121 yvaickplhy mniisrqlch llvagswlgg fchsiiqilv iiqlpfcgpn vidhyfcdlq
      181 plfklactdt fmegvivlan sglfsvfsfl ilvssyivil vnlrnhsaeg rhkalstcas
      241 hitvvilffg paiflymrps stftedklva vfytvitpml npiiytlrna evkiairrlw
      301 skkenpgre
//
LOCUS       NP_064629                406 aa            linear   PRI 24-DEC-2022
DEFINITION  cholinephosphotransferase 1 [Homo sapiens].
ACCESSION   NP_064629
VERSION     NP_064629.2
DBSOURCE    REFSEQ: accession NM_020244.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 406)
  AUTHORS   Wen S, He Y, Wang L, Zhang J, Quan C, Niu Y and Huang H.
  TITLE     Aberrant activation of super enhancer and choline metabolism drive
            antiandrogen therapy resistance in prostate cancer
  JOURNAL   Oncogene 39 (42), 6556-6571 (2020)
   PUBMED   32917955
  REMARK    GeneRIF: Aberrant activation of super enhancer and choline
            metabolism drive antiandrogen therapy resistance in prostate
            cancer.
REFERENCE   2  (residues 1 to 406)
  AUTHORS   Shen W, Kuang P, Wang B, Zeng Q, Chen C and Lin X.
  TITLE     Genetic Polymorphisms of LPCAT1, CHPT1 and PCYT1B and Risk of
            Neonatal Respiratory Distress Syndrome among a Chinese Han
            Population
  JOURNAL   Pediatr Neonatol 61 (3), 318-324 (2020)
   PUBMED   31964590
  REMARK    GeneRIF: Genetic Polymorphisms of LPCAT1, CHPT1 and PCYT1B and Risk
            of Neonatal Respiratory Distress Syndrome among a Chinese Han
            Population.
REFERENCE   3  (residues 1 to 406)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 406)
  AUTHORS   Detopoulou P, Fragopoulou E, Nomikos T, Yannakoulia M, Stamatakis
            G, Panagiotakos DB and Antonopoulou S.
  TITLE     The relation of diet with PAF and its metabolic enzymes in healthy
            volunteers
  JOURNAL   Eur J Nutr 54 (1), 25-34 (2015)
   PUBMED   24639073
  REMARK    GeneRIF: Data suggest that PAF-CPT level in blood can be altered by
            diet; up-regulation of PAF-CPT is associated with diets high in fat
            and cholesterol; down-regulation of PAF-CPT is associated with
            healthy diet patterns of the population studied in Greece.
REFERENCE   5  (residues 1 to 406)
  AUTHORS   Akech J, Sinha Roy S and Das SK.
  TITLE     Modulation of cholinephosphotransferase activity in breast cancer
            cell lines by Ro5-4864, a peripheral benzodiazepine receptor
            agonist
  JOURNAL   Biochem Biophys Res Commun 333 (1), 35-41 (2005)
   PUBMED   15936720
  REMARK    GeneRIF: Furthermore, the activity of CPT in forming PC is
            increased in the breast cancer cell lines cultured for 24 h.
REFERENCE   6  (residues 1 to 406)
  AUTHORS   Ghosh A, Akech J, Mukherjee S and Das SK.
  TITLE     Differential expression of cholinephosphotransferase in normal and
            cancerous human mammary epithelial cells
  JOURNAL   Biochem Biophys Res Commun 297 (4), 1043-1048 (2002)
   PUBMED   12359261
REFERENCE   7  (residues 1 to 406)
  AUTHORS   Henneberry AL, Wistow G and McMaster CR.
  TITLE     Cloning, genomic organization, and characterization of a human
            cholinephosphotransferase
  JOURNAL   J Biol Chem 275 (38), 29808-29815 (2000)
   PUBMED   10893425
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CD300296.1, BC050429.1 and AC063950.37.
            On Jul 28, 2004 this sequence version replaced NP_064629.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC050429.1, SRR1163657.171826.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000229266.8/ ENSP00000229266.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..406
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.2"
     Protein         1..406
                     /product="cholinephosphotransferase 1"
                     /EC_number="2.7.8.2"
                     /note="cholinephosphotransferase 1 alpha;
                     phosphatidylcholine synthesizing enzyme; hCPT1; AAPT1-like
                     protein; diacylglycerol cholinephosphotransferase 1"
                     /calculated_mol_wt=44966
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8WUD6.1)"
     Region          25..337
                     /region_name="EPT1"
                     /note="sn-1,2-diacylglycerol ethanolamine- and
                     cholinephosphotranferases [Lipid metabolism]; COG5050"
                     /db_xref="CDD:227383"
     Site            66..86
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUD6.1)"
     Site            93..113
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUD6.1)"
     Site            153..173
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUD6.1)"
     Site            193..213
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUD6.1)"
     Site            226..248
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUD6.1)"
     Site            261..281
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUD6.1)"
     Site            295..315
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUD6.1)"
     Site            349..369
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUD6.1)"
     CDS             1..406
                     /gene="CHPT1"
                     /gene_synonym="CPT; CPT1"
                     /coded_by="NM_020244.3:223..1443"
                     /db_xref="CCDS:CCDS9086.1"
                     /db_xref="GeneID:56994"
                     /db_xref="HGNC:HGNC:17852"
                     /db_xref="MIM:616747"
ORIGIN      
        1 maagagagsa prwlralsep lsaaqlrrle ehrysaagvs llepplqlyw twllqwiplw
       61 mapnsitllg lavnvvttlv lisycptate eapywtyllc alglfiyqsl daidgkqarr
      121 tnscsplgel fdhgcdslst vfmavgasia arlgtypdwf ffcsfigmfv fycahwqtyv
      181 sgmlrfgkvd vteiqialvi vfvlsafgga tmwdytipil eiklkilpvl gflggvifsc
      241 snyfhvilhg gvgkngstia gtsvlspglh igliiilaim iykksatdvf ekhpclyilm
      301 fgcvfakvsq klvvahmtks elylqdtvfl gpgllfldqy fnnfideyvv lwmamvissf
      361 dmviyfsalc lqisrhlhln ifktachqap eqvqvlssks hqnnmd
//
LOCUS       NP_001116451             265 aa            linear   PRI 25-DEC-2022
DEFINITION  high affinity immunoglobulin alpha and immunoglobulin mu Fc
            receptor isoform a [Homo sapiens].
ACCESSION   NP_001116451 XP_001713791 XP_001713792
VERSION     NP_001116451.1
DBSOURCE    REFSEQ: accession NM_001122979.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 265)
  AUTHORS   Ward-Caviness CK, Neas LM, Blach C, Haynes CS, LaRocque-Abramson K,
            Grass E, Dowdy ZE, Devlin RB, Diaz-Sanchez D, Cascio WE, Miranda
            ML, Gregory SG, Shah SH, Kraus WE and Hauser ER.
  TITLE     A genome-wide trans-ethnic interaction study links the PIGR-FCAMR
            locus to coronary atherosclerosis via interactions between genetic
            variants and residential exposure to traffic
  JOURNAL   PLoS One 12 (3), e0173880 (2017)
   PUBMED   28355232
  REMARK    GeneRIF: A genome-wide trans-ethnic interaction study links the
            PIGR-FCAMR locus to coronary atherosclerosis via interactions
            between genetic variants and residential exposure to traffic
            pollution.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 265)
  AUTHORS   Schneider BP, Li L, Radovich M, Shen F, Miller KD, Flockhart DA,
            Jiang G, Vance G, Gardner L, Vatta M, Bai S, Lai D, Koller D, Zhao
            F, O'Neill A, Smith ML, Railey E, White C, Partridge A, Sparano J,
            Davidson NE, Foroud T and Sledge GW Jr.
  TITLE     Genome-Wide Association Studies for Taxane-Induced Peripheral
            Neuropathy in ECOG-5103 and ECOG-1199
  JOURNAL   Clin Cancer Res 21 (22), 5082-5091 (2015)
   PUBMED   26138065
  REMARK    GeneRIF: rs3125923 FCAMR gene represents a validated SNP to predict
            grade 3-4 Taxane-induced peripheral neuropathy . Genetically
            determined AA race represents the most significant predictor of
            TIPN.
REFERENCE   3  (residues 1 to 265)
  AUTHORS   Ten Klooster L, van Moorsel CH, Kwakkel-van Erp JM, van Velzen-Blad
            H and Grutters JC.
  TITLE     Immunoglobulin A in serum: an old acquaintance as a new prognostic
            biomarker in idiopathic pulmonary fibrosis
  JOURNAL   Clin Exp Immunol 181 (2), 357-361 (2015)
   PUBMED   25845491
  REMARK    GeneRIF: A significantly worse survival was found in patients with
            IgA serum levels>2.85 g/l compared to patients with lower IgA serum
            levels.
REFERENCE   4  (residues 1 to 265)
  AUTHORS   Peng M, Guo S, Yin N, Xue J, Shen L, Zhao Q and Zhang W.
  TITLE     Ectodomain shedding of Fcalpha receptor is mediated by ADAM10 and
            ADAM17
  JOURNAL   Immunology 130 (1), 83-91 (2010)
   PUBMED   20059578
  REMARK    GeneRIF: ADAM10 and ADAM17 are involved in the shedding of FcalphaR
REFERENCE   5  (residues 1 to 265)
  AUTHORS   Cho Y, Honda S, Yoshizawa Y, Takagaki K, Usui K and Shibuya A.
  TITLE     Requirement of the cytoplasmic portion for dimer formation of
            Fcalpha/micro receptor expressed on cell surface
  JOURNAL   Mol Immunol 47 (4), 878-882 (2010)
   PUBMED   19945166
  REMARK    GeneRIF: These results suggest that the cytoplasmic portion is
            required for the dimer formation and thus for efficient cell
            surface expression of Fcalpha/microR.
REFERENCE   6  (residues 1 to 265)
  AUTHORS   Wang R, Fu Y, Zhao Q, Pan L and Zhang W.
  TITLE     Human Fcalpha/muR and pIgR distribute differently in intestinal
            tissues
  JOURNAL   Biochem Biophys Res Commun 381 (2), 148-152 (2009)
   PUBMED   19338768
  REMARK    GeneRIF: These results indicate for the first time that Fcalpha/muR
            protein is expressed by human intestinal tissues
REFERENCE   7  (residues 1 to 265)
  AUTHORS   Yang L, Shen L, Shao Y, Zhao Q and Zhang W.
  TITLE     Cytoplasmic domain of human Fcalpha/mu receptor is required for
            ligand internalization
  JOURNAL   Cell Immunol 258 (1), 78-82 (2009)
   PUBMED   19393604
  REMARK    GeneRIF: the cytoplasmic portion of human Fcalpha/microR is
            required in the internalization.
REFERENCE   8  (residues 1 to 265)
  AUTHORS   Vallender EJ, Priddy CM, Chen GL and Miller GM.
  TITLE     Human expression variation in the mu-opioid receptor is paralleled
            in rhesus macaque
  JOURNAL   Behav Genet 38 (4), 390-395 (2008)
   PUBMED   18379868
  REMARK    GeneRIF: Comprehensive survey of naturally occurring polymorphisms
            in rhesus macaques and in humans.
REFERENCE   9  (residues 1 to 265)
  AUTHORS   McDonald KJ, Cameron AJ, Allen JM and Jardine AG.
  TITLE     Expression of Fc alpha/mu receptor by human mesangial cells: a
            candidate receptor for immune complex deposition in IgA nephropathy
  JOURNAL   Biochem Biophys Res Commun 290 (1), 438-442 (2002)
   PUBMED   11779189
REFERENCE   10 (residues 1 to 265)
  AUTHORS   Shibuya A, Sakamoto N, Shimizu Y, Shibuya K, Osawa M, Hiroyama T,
            Eyre HJ, Sutherland GR, Endo Y, Fujita T, Miyabayashi T, Sakano S,
            Tsuji T, Nakayama E, Phillips JH, Lanier LL and Nakauchi H.
  TITLE     Fc alpha/mu receptor mediates endocytosis of IgM-coated microbes
  JOURNAL   Nat Immunol 1 (5), 441-446 (2000)
   PUBMED   11062505
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CD633520.1, BC109263.1, BX090153.1, AC098935.2 and AI269147.1.
            On or before Apr 5, 2008 this sequence version replaced
            XP_001713791.1, XP_001713792.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            lacks an alternate exon in the 3' coding region resulting in a
            frameshift, compared to variant 3. The resulting isoform (a) has a
            shorter and distinct C-terminus, compared to isoform b. Both
            variants 1 and 2 encode the same isoform.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: BC109263.1 [ECO:0000331]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..265
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     Protein         1..265
                     /product="high affinity immunoglobulin alpha and
                     immunoglobulin mu Fc receptor isoform a"
                     /note="receptor for Fc fragment of IgA and IgM; immunity
                     related factor; high affinity immunoglobulin alpha and
                     immunoglobulin mu Fc receptor; Fc alpha/mu receptor; Fc
                     receptor, IgA, IgM, high affinity; Fc fragment of IgA and
                     IgM receptor"
                     /calculated_mol_wt=29765
     Region          109..214
                     /region_name="IgV_pIgR_like"
                     /note="Immunoglobulin (Ig)-like domain in the polymeric Ig
                     receptor (pIgR) and similar proteins; cd05716"
                     /db_xref="CDD:409381"
     Region          109..127
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409381"
     Region          109..111
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409381"
     Region          114..119
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409381"
     Region          121..128
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409381"
     Region          128..138
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409381"
     Region          138..143
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409381"
     Site            138..140
                     /site_type="other"
                     /note="CDR1-dIgA binding residues [polypeptide binding]"
                     /db_xref="CDD:409381"
     Region          139..143
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409381"
     Region          144..163
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409381"
     Region          153..157
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409381"
     Region          161..163
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409381"
     Region          169..200
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409381"
     Region          169..175
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409381"
     Region          179..187
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409381"
     Region          193..200
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409381"
     Region          201..208
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409381"
     Region          208..214
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409381"
     Region          208..214
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409381"
     CDS             1..265
                     /gene="FCAMR"
                     /gene_synonym="CD351; FCA/MR; Fcalpha/muR; FKSG87"
                     /coded_by="NM_001122979.3:253..1050"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS41460.1"
                     /db_xref="GeneID:83953"
                     /db_xref="HGNC:HGNC:24692"
                     /db_xref="MIM:605484"
ORIGIN      
        1 mdgeatvkpg eqkevvrrgr evdysrliag tlpqshvtsr ragwkmplfl ilcllqgssf
       61 alpqkrphpr wlwegslpsr thlramgtlr pssplcwree ssfaapnslk gsrlvsgepg
      121 gavtiqchya pssvnrhqrk ywcrlgpprw icqtivstnq ythhryrdrv altdfpqrgl
      181 fvvrlsqlsp ddigcylcgi gsennmlfls mnltisavlf qkmkaalgpw llslpcwpcl
      241 clwlwfyckg ssgeggplrr qkgsp
//
LOCUS       NP_006026               1711 aa            linear   PRI 25-DEC-2022
DEFINITION  serine/threonine-protein kinase MRCK beta isoform 1 [Homo sapiens].
ACCESSION   NP_006026
VERSION     NP_006026.3
DBSOURCE    REFSEQ: accession NM_006035.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1711)
  AUTHORS   Dixit P, Kokate SB, Poirah I, Chakraborty D, Smoot DT, Ashktorab H,
            Rout N, Singh SP and Bhattacharyya A.
  TITLE     Helicobacter pylori-induced gastric cancer is orchestrated by
            MRCKbeta-mediated Siah2 phosphorylation
  JOURNAL   J Biomed Sci 28 (1), 12 (2021)
   PUBMED   33536006
  REMARK    GeneRIF: Helicobacter pylori-induced gastric cancer is orchestrated
            by MRCKbeta-mediated Siah2 phosphorylation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1711)
  AUTHORS   Unbekandt M, Lilla S, Zanivan S and Olson MF.
  TITLE     The CDC42 effector protein MRCKbeta autophosphorylates on Threonine
            1108
  JOURNAL   Small GTPases 11 (6), 451-460 (2020)
   PUBMED   30667325
  REMARK    GeneRIF: The CDC42 effector protein MRCKbeta autophosphorylates on
            Threonine 1108.
REFERENCE   3  (residues 1 to 1711)
  AUTHORS   Luo LJ, Feng F, Li SH, Lu D, Li L and Zhou Q.
  TITLE     Sequence variant in the CDC42BPB gene is potentially associated
            with Mullerian duct anomalies
  JOURNAL   J Obstet Gynaecol Res 46 (5), 684-693 (2020)
   PUBMED   32043305
  REMARK    GeneRIF: Sequence variant in the CDC42BPB gene is potentially
            associated with Mullerian duct anomalies.
REFERENCE   4  (residues 1 to 1711)
  AUTHORS   Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg
            A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M,
            Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A,
            Heron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M,
            Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault
            I, Alaimo JT, Fleischer J, Groepper D, Gripp KW and Chung WK.
  TITLE     De novo heterozygous missense and loss-of-function variants in
            CDC42BPB are associated with a neurodevelopmental phenotype
  JOURNAL   Am J Med Genet A 182 (5), 962-973 (2020)
   PUBMED   32031333
  REMARK    GeneRIF: De novo heterozygous missense and loss-of-function
            variants in CDC42BPB are associated with a neurodevelopmental
            phenotype.
REFERENCE   5  (residues 1 to 1711)
  AUTHORS   Story Jovanova O, Nedeljkovic I, Spieler D, Walker RM, Liu C,
            Luciano M, Bressler J, Brody J, Drake AJ, Evans KL, Gondalia R,
            Kunze S, Kuhnel B, Lahti J, Lemaitre RN, Marioni RE, Swenson B,
            Himali JJ, Wu H, Li Y, McRae AF, Russ TC, Stewart J, Wang Z, Zhang
            G, Ladwig KH, Uitterlinden AG, Guo X, Peters A, Raikkonen K, Starr
            JM, Waldenberger M, Wray NR, Whitsel EA, Sotoodehnia N, Seshadri S,
            Porteous DJ, van Meurs J, Mosley TH, McIntosh AM, Mendelson MM,
            Levy D, Hou L, Eriksson JG, Fornage M, Deary IJ, Baccarelli A,
            Tiemeier H and Amin N.
  TITLE     DNA Methylation Signatures of Depressive Symptoms in Middle-aged
            and Elderly Persons: Meta-analysis of Multiethnic Epigenome-wide
            Studies
  JOURNAL   JAMA Psychiatry 75 (9), 949-959 (2018)
   PUBMED   29998287
  REMARK    GeneRIF: The predicted expression of the CDC42BPB gene in the brain
            (basal ganglia) (effect, 0.14; P = 2.7 x 10-03) was associated with
            Major Depression.
            Erratum:[JAMA Psychiatry. 2018 Nov 1;75(11):1206. PMID: 30140913]
REFERENCE   6  (residues 1 to 1711)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (residues 1 to 1711)
  AUTHORS   Tan I, Yong J, Dong JM, Lim L and Leung T.
  TITLE     A tripartite complex containing MRCK modulates lamellar actomyosin
            retrograde flow
  JOURNAL   Cell 135 (1), 123-136 (2008)
   PUBMED   18854160
REFERENCE   8  (residues 1 to 1711)
  AUTHORS   Choi SH, Czifra G, Kedei N, Lewin NE, Lazar J, Pu Y, Marquez VE and
            Blumberg PM.
  TITLE     Characterization of the interaction of phorbol esters with the C1
            domain of MRCK (myotonic dystrophy kinase-related Cdc42 binding
            kinase) alpha/beta
  JOURNAL   J Biol Chem 283 (16), 10543-10549 (2008)
   PUBMED   18263588
  REMARK    GeneRIF: analysis of the interaction of phorbol esters with the C1
            domain of MRCK (myotonic dystrophy kinase-related Cdc42 binding
            kinase) alpha/beta
REFERENCE   9  (residues 1 to 1711)
  AUTHORS   Moncrieff CL, Bailey ME, Morrison N and Johnson KJ.
  TITLE     Cloning and chromosomal localization of human Cdc42-binding protein
            kinase beta
  JOURNAL   Genomics 57 (2), 297-300 (1999)
   PUBMED   10198171
REFERENCE   10 (residues 1 to 1711)
  AUTHORS   Leung T, Chen XQ, Tan I, Manser E and Lim L.
  TITLE     Myotonic dystrophy kinase-related Cdc42-binding kinase acts as a
            Cdc42 effector in promoting cytoskeletal reorganization
  JOURNAL   Mol Cell Biol 18 (1), 130-140 (1998)
   PUBMED   9418861
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133455.4, AF128625.1,
            BC048261.1, AB032950.3 and AL117209.7.
            On Oct 4, 2006 this sequence version replaced NP_006026.2.
            
            Summary: This gene encodes a member of the serine/threonine protein
            kinase family. The encoded protein contains a Cdc42/Rac-binding p21
            binding domain resembling that of PAK kinase. The kinase domain of
            this protein is most closely related to that of myotonic dystrophy
            kinase-related ROK. Studies of the similar gene in rat suggested
            that this kinase may act as a downstream effector of Cdc42 in
            cytoskeletal reorganization. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF128625.1, BC155541.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361246.7/ ENSP00000355237.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1711
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.32"
     Protein         1..1711
                     /product="serine/threonine-protein kinase MRCK beta
                     isoform 1"
                     /EC_number="2.7.11.1"
                     /note="serine/threonine-protein kinase MRCK beta; myotonic
                     dystrophy protein kinase-like beta; DMPK-like beta;
                     myotonic dystrophy kinase-related CDC42-binding kinase
                     beta; CDC42BP-beta; CDC42 binding protein kinase beta
                     (DMPK-like)"
                     /calculated_mol_wt=194185
     Region          3..411
                     /region_name="STKc_MRCK_beta"
                     /note="Catalytic domain of the Protein Serine/Threonine
                     Kinase, DMPK-related cell division control protein 42
                     binding kinase (MRCK) beta; cd05624"
                     /db_xref="CDD:270774"
     Site            order(3..4,6..7,10..11,14..15,24..25,27,29..30,33..34,37,
                     46,51..52,55,58,62,65,68..72,75,95,98,100,113,141,393,
                     396..397,399,406..409)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:270774"
     Site            order(82..86,90,103,105,137,153..154,156,160,162,200,202,
                     204..205,207,217..218,221,236..241,273,279,282)
                     /site_type="active"
                     /db_xref="CDD:270774"
     Site            order(82..86,90,103,105,137,154..156,160,200,202,204..205,
                     207,217..218)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270774"
     Site            order(86,160,162,200,202,204,221,236..241,273,279,282)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270774"
     Site            217..241
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270774"
     Site            221
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by autocatalysis.
                     /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5S2.2)"
     Site            233
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by autocatalysis.
                     /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5S2.2)"
     Site            239
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5S2.2)"
     Site            398..403
                     /site_type="other"
                     /note="hydrophobic motif (HM)"
                     /db_xref="CDD:270774"
     Site            423
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5S2.2)"
     Region          424..955
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          461..484
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5S2.2)"
     Region          528..606
                     /region_name="KELK"
                     /note="KELK-motif containing domain of MRCK Ser/Thr
                     protein kinase; pfam15796"
                     /db_xref="CDD:434944"
     Site            671
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5S2.2)"
     Site            954
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q7TT50; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5S2.2)"
     Region          969..1009
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5S2.2)"
     Region          1026..1078
                     /region_name="C1_MRCKbeta"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in myotonic dystrophy kinase-related Cdc42-binding
                     kinase beta (MRCK beta) and similar proteins; cd20865"
                     /db_xref="CDD:410415"
     Site            order(1031..1037,1045..1049,1052)
                     /site_type="other"
                     /note="putative DAG/PE binding site [chemical binding]"
                     /db_xref="CDD:410415"
     Region          1085..1219
                     /region_name="PH_MRCK"
                     /note="MRCK (myotonic dystrophy-related Cdc42-binding
                     kinase) pleckstrin homology (PH) domain; cd01243"
                     /db_xref="CDD:269949"
     Region          1250..1509
                     /region_name="CNH"
                     /note="CNH domain; pfam00780"
                     /db_xref="CDD:425867"
     Region          1611..1711
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5S2.2)"
     Site            1680
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5S2.2)"
     Site            1682
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5S2.2)"
     Site            1686
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5S2.2)"
     Site            1690
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9Y5S2.2)"
     Site            1693
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5S2.2)"
     CDS             1..1711
                     /gene="CDC42BPB"
                     /gene_synonym="CHOCNS; MRCKB"
                     /coded_by="NM_006035.4:377..5512"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9978.1"
                     /db_xref="GeneID:9578"
                     /db_xref="HGNC:HGNC:1738"
                     /db_xref="MIM:614062"
ORIGIN      
        1 msakvrlkkl eqllldgpwr nesalsvetl ldvlvclyte cshsalrrdk yvaeflewak
       61 pftqlvkemq lhredfeiik vigrgafgev avvkmknter iyamkilnkw emlkraetac
      121 freerdvlvn gdcqwitalh yafqdenhly lvmdyyvggd lltllskfed klpedmarfy
      181 igemvlaids ihqlhyvhrd ikpdnvlldv nghirladfg sclkmnddgt vqssvavgtp
      241 dyispeilqa medgmgkygp ecdwwslgvc myemlygetp fyaeslvety gkimnheerf
      301 qfpshvtdvs eeakdliqrl icsrerrlgq ngiedfkkha ffeglnweni rnleapyipd
      361 vsspsdtsnf dvdddvlrnt eilppgshtg fsglhlpfig ftfttescfs drgslksimq
      421 sntltkdedv qrdlehslqm eayerrirrl eqeklelsrk lqestqtvqs lhgssralsn
      481 snrdkeikkl neeierlknk iadsnrlerq ledtvalrqe redstqrlrg lekqhrvvrq
      541 ekeelhkqlv easerlksqa kelkdahqqr klalqefsel nermaelraq kqkvsrqlrd
      601 keeemevatq kvdamrqemr raeklrkele aqlddavaea skerklrehs enfckqmese
      661 lealkvkqgg rgagatlehq qeiskiksel ekkvlfyeee lvrreashvl evknvkkevh
      721 dseshqlalq keilmlkdkl ekskrerhne meeavgtikd kyereramlf denkkltaen
      781 eklcsfvdkl taqnrqlede lqdlaakkes vahweaqiae iiqwvsdekd argylqalas
      841 kmteelealr ssslgsrtld plwkvrrsqk ldmsarlelq saleaeirak qlvqeelrkv
      901 kdanltlesk lkdseaknre lleemeilkk kmeekfradt glklpdfqds ifeyfntapl
      961 ahdltfrtss aseqetqapk peaspsmsva aseqqedmar ppqrpsavpl pttqalalag
     1021 pkpkahqfsi ksfssptqcs hctslmvgli rqgyacevcs fachvsckdg apqvcpippe
     1081 qskrplgvdv qrgigtaykg hvkvpkptgv kkgwqrayav vcdcklflyd lpegkstqpg
     1141 viasqvldlr ddefsvssvl asdvihatrr dipcifrvta sllgapskts slliltenen
     1201 ekrkwvgile glqsilhknr lrnqvvhvpl eaydsslpli kailtaaivd adriavglee
     1261 glyvievtrd vivraadckk vhqielapre kivillcgrn hhvhlypwss ldgaegsfdi
     1321 klpetkgcql matatlkrns gtclfvavkr lilcyeiqrt kpfhrkfnei vapgsvqcla
     1381 vlrdrlcvgy psgfcllsiq gdgqplnlvn pndpslafls qqsfdalcav eleseeyllc
     1441 fshmglyvdp qgrraraqel mwpaapvacs cspthvtvys eygvdvfdvr tmewvqtigl
     1501 rrirplnseg tlnllncepp rliyfkskfs gavlnvpdts dnskkqmlrt rskrrfvfkv
     1561 peeerlqqrr emlrdpelrs kmisnptnfn hvahmgpgdg mqvlmdlpls avppsqeerp
     1621 gpaptnlarq ppsrnkpyis wpssggseps vtvplrsmsd pdqdfdkepd sdstkhstps
     1681 nssnpsgpps pnsphrsqlp legleqpacd t
//
LOCUS       NP_055691                202 aa            linear   PRI 26-DEC-2022
DEFINITION  josephin-1 [Homo sapiens].
ACCESSION   NP_055691 XP_005261934
VERSION     NP_055691.1
DBSOURCE    REFSEQ: accession NM_014876.7
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 202)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 202)
  AUTHORS   Wu X, Luo Q, Zhao P, Chang W, Wang Y, Shu T, Ding F, Li B and Liu
            Z.
  TITLE     JOSD1 inhibits mitochondrial apoptotic signalling to drive acquired
            chemoresistance in gynaecological cancer by stabilizing MCL1
  JOURNAL   Cell Death Differ 27 (1), 55-70 (2020)
   PUBMED   31043700
  REMARK    GeneRIF: JOSD1 inhibits mitochondrial apoptotic signalling to drive
            acquired chemoresistance in gynaecological cancer by stabilizing
            MCL1.
REFERENCE   3  (residues 1 to 202)
  AUTHORS   Wang X, Zhang L, Zhang Y, Zhao P, Qian L, Yuan Y, Liu J, Cheng Q,
            Xu W, Zuo Y, Guo T, Yu Z and Zheng H.
  TITLE     JOSD1 Negatively Regulates Type-I Interferon Antiviral Activity by
            Deubiquitinating and Stabilizing SOCS1
  JOURNAL   Viral Immunol 30 (5), 342-349 (2017)
   PUBMED   28355105
  REMARK    GeneRIF: In this study, the authors report that JOSD1 plays an
            important role in regulating type-I interferon (IFN-I)-mediated
            antiviral activity. JOSD1 physically interacts with SOCS1, which is
            an essential negative regulator of many cytokines signaling, and
            enhances SOCS1 stability by deubiquitinating K48-linked
            polyubiquitination of SOCS1.
REFERENCE   4  (residues 1 to 202)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   5  (residues 1 to 202)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   6  (residues 1 to 202)
  AUTHORS   Sakai N, Terami H, Suzuki S, Haga M, Nomoto K, Tsuchida N,
            Morohashi K, Saito N, Asada M, Hashimoto M, Harada D, Asahara H,
            Ishikawa T, Shimada F and Sakurada K.
  TITLE     Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by
            large-scale gain and loss of function studies
  JOURNAL   J Endocrinol 198 (3), 489-497 (2008)
   PUBMED   18579725
  REMARK    GeneRIF: The gain of function studies indicated that Josephin
            domain containing 1 activate NR5A1 gene expression.
REFERENCE   7  (residues 1 to 202)
  AUTHORS   Albrecht M, Hoffmann D, Evert BO, Schmitt I, Wullner U and Lengauer
            T.
  TITLE     Structural modeling of ataxin-3 reveals distant homology to
            adaptins
  JOURNAL   Proteins 50 (2), 355-370 (2003)
   PUBMED   12486728
REFERENCE   8  (residues 1 to 202)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY026936.1, BC015026.3 and CA449010.1.
            On Jan 29, 2018 this sequence version replaced XP_005261934.1.
            
            Transcript Variant: This variant (1) represents the predominant
            transcript. Variants 1, 2, and 3 encode the same protein.
            
            ##Evidence-Data-START##
            CDS exon combination :: BC015026.3, SRR1803612.20775.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1968540, SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..202
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     Protein         1..202
                     /product="josephin-1"
                     /EC_number="3.4.19.12"
                     /note="josephin domain-containing 1; josephin
                     domain-containing protein 1"
                     /calculated_mol_wt=23067
     Site            15
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15040.1)"
     Region          31..173
                     /region_name="Josephin"
                     /note="pfam02099"
                     /db_xref="CDD:426599"
     CDS             1..202
                     /gene="JOSD1"
                     /gene_synonym="dJ508I15.2"
                     /coded_by="NM_014876.7:672..1280"
                     /db_xref="CCDS:CCDS13976.1"
                     /db_xref="GeneID:9929"
                     /db_xref="HGNC:HGNC:28953"
                     /db_xref="MIM:615323"
ORIGIN      
        1 mscvpwkgdk akseslelpq aappqiyhek qrrelcalha lnnvfqdsna ftrdtlqeif
       61 qrlspntmvt phkksmlgng nydvnvimaa lqtkgyeavw wdkrrdvgvi altnvmgfim
      121 nlpsslcwgp lklplkrqhw icvrevggay ynldsklkmp ewiggeselr kflkhhlrgk
      181 ncelllvvpe eveahqswrt dv
//
LOCUS       NP_001337329             365 aa            linear   PRI 26-DEC-2022
DEFINITION  antizyme inhibitor 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001337329 XP_016855658
VERSION     NP_001337329.1
DBSOURCE    REFSEQ: accession NM_001350400.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 365)
  AUTHORS   Hametoja H, Andersson LC, Makitie A, Back L, Hagstrom J and Haglund
            C.
  TITLE     Antizyme inhibitor 2 (AZIN2) associates with better prognosis of
            head and neck minor salivary gland adenoid cystic carcinoma
  JOURNAL   APMIS 129 (8), 503-511 (2021)
   PUBMED   34046926
  REMARK    GeneRIF: Antizyme inhibitor 2 (AZIN2) associates with better
            prognosis of head and neck minor salivary gland adenoid cystic
            carcinoma.
REFERENCE   2  (residues 1 to 365)
  AUTHORS   Sandusky-Beltran LA, Kovalenko A, Placides DS, Ratnasamy K, Ma C,
            Hunt JB Jr, Liang H, Calahatian JIT, Michalski C, Fahnestock M,
            Blair LJ, Darling AL, Baker JD, Fontaine SN, Dickey CA, Gamsby JJ,
            Nash KR, Abner E, Selenica MB and Lee DC.
  TITLE     Aberrant AZIN2 and polyamine metabolism precipitates tau
            neuropathology
  JOURNAL   J Clin Invest 131 (4) (2021)
   PUBMED   33586680
  REMARK    GeneRIF: Aberrant AZIN2 and polyamine metabolism precipitates tau
            neuropathology.
REFERENCE   3  (residues 1 to 365)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 365)
  AUTHORS   Li X, He X, Wang H, Li M, Huang S, Chen G, Jing Y, Wang S, Chen Y,
            Liao W, Liao Y and Bin J.
  TITLE     Loss of AZIN2 splice variant facilitates endogenous cardiac
            regeneration
  JOURNAL   Cardiovasc Res 114 (12), 1642-1655 (2018)
   PUBMED   29584819
  REMARK    GeneRIF: AZIN2 splice variant suppressed endogenous cardiac
            regeneration by targeting the PTEN/Akt pathway.
            Erratum:[Cardiovasc Res. 2018 Oct 1;114(12):1628. PMID: 30137261]
REFERENCE   5  (residues 1 to 365)
  AUTHORS   Lopez-Contreras AJ, Ramos-Molina B, Cremades A and Penafiel R.
  TITLE     Antizyme inhibitor 2: molecular, cellular and physiological aspects
  JOURNAL   Amino Acids 38 (2), 603-611 (2010)
   PUBMED   19956990
  REMARK    GeneRIF: AZIN2 expression appears to be restricted to brain and
            testis and it is a labile protein degraded by a ubiquitin-dependent
            mechanism.
            Review article
REFERENCE   6  (residues 1 to 365)
  AUTHORS   Kanerva K, Lappalainen J, Makitie LT, Virolainen S, Kovanen PT and
            Andersson LC.
  TITLE     Expression of antizyme inhibitor 2 in mast cells and role of
            polyamines as selective regulators of serotonin secretion
  JOURNAL   PLoS One 4 (8), e6858 (2009)
   PUBMED   19718454
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 365)
  AUTHORS   Kanerva K, Makitie LT, Pelander A, Heiskala M and Andersson LC.
  TITLE     Human ornithine decarboxylase paralogue (ODCp) is an antizyme
            inhibitor but not an arginine decarboxylase
  JOURNAL   Biochem J 409 (1), 187-192 (2008)
   PUBMED   17900240
REFERENCE   8  (residues 1 to 365)
  AUTHORS   Coleman CS, Hu G and Pegg AE.
  TITLE     Putrescine biosynthesis in mammalian tissues
  JOURNAL   Biochem J 379 (Pt 3), 849-855 (2004)
   PUBMED   14763899
REFERENCE   9  (residues 1 to 365)
  AUTHORS   Zhu MY, Iyo A, Piletz JE and Regunathan S.
  TITLE     Expression of human arginine decarboxylase, the biosynthetic enzyme
            for agmatine
  JOURNAL   Biochim Biophys Acta 1670 (2), 156-164 (2004)
   PUBMED   14738999
REFERENCE   10 (residues 1 to 365)
  AUTHORS   Pitkanen LT, Heiskala M and Andersson LC.
  TITLE     Expression of a novel human ornithine decarboxylase-like protein in
            the central nervous system and testes
  JOURNAL   Biochem Biophys Res Commun 287 (5), 1051-1057 (2001)
   PUBMED   11587527
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC028128.1, DB476211.1,
            BX444560.2, AK095127.1, AW450278.1 and AL020995.14.
            On Apr 14, 2017 this sequence version replaced XP_016855658.1.
            
            Summary: The protein encoded by this gene belongs to the antizyme
            inhibitor family, which plays a role in cell growth and
            proliferation by maintaining polyamine homeostasis within the cell.
            Antizyme inhibitors are homologs of ornithine decarboxylase (ODC,
            the key enzyme in polyamine biosynthesis) that have lost the
            ability to decarboxylase ornithine; however, retain the ability to
            bind to antizymes. Antizymes negatively regulate intracellular
            polyamine levels by binding to ODC and targeting it for
            degradation, as well as by inhibiting polyamine uptake. Antizyme
            inhibitors function as positive regulators of polyamine levels by
            sequestering antizymes and neutralizing their effect. This gene
            encodes antizyme inhibitor 2, the second member of this gene
            family. Like antizyme inhibitor 1, antizyme inhibitor 2 interacts
            with all 3 antizymes and stimulates ODC activity and polyamine
            uptake. However, unlike antizyme inhibitor 1, which is ubiquitously
            expressed and localized in the nucleus and cytoplasm, antizyme
            inhibitor 2 is predominantly expressed in the brain and testis and
            localized in the endoplasmic reticulum-golgi intermediate
            compartment. Recent studies indicate that antizyme inhibitor 2 is
            also expressed in specific cell types in ovaries, adrenal glands
            and pancreas, and in mast cells. The exact function of this gene is
            not known, however, available data suggest its role in cell growth,
            spermiogenesis, vesicular trafficking and secretion. Accumulation
            of antizyme inhibitor 2 has also been observed in brains of
            patients with Alzheimer's disease. There has been confusion in
            literature and databases over the nomenclature of this gene,
            stemming from an earlier report that a human cDNA clone (identical
            to ODCp/AZIN2) had arginine decarboxylase (ADC) activity
            (PMID:14738999). Subsequent studies in human and mouse showed that
            antizyme inhibitor 2 was devoid of arginine decarboxylase activity
            (PMID:19956990). Alternatively spliced transcript variants have
            been described for this gene. [provided by RefSeq, Sep 2014].
            
            Transcript Variant: This variant (10) has multiple differences at
            the 5' end, which result in a distinct 5' UTR and translation
            initiation from an in-frame downstream start codon, compared to
            variant 1. The encoded isoform (2) has a shorter N-terminus
            compared to isoform 1. Variants 3, 4, 8, 9, 10 and 11 encode the
            same isoform (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.248630.1,
                                           SRR1803617.61313.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..365
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.1"
     Protein         1..365
                     /product="antizyme inhibitor 2 isoform 2"
                     /note="ornithine decarboxylase like; ornithine
                     decarboxylase-paralog; ODC antizyme inhibitor-2; arginine
                     decarboxylase; ODC-paralogue; ornithine decarboxylase-like
                     protein; ODC-like protein"
                     /calculated_mol_wt=39570
     Region          1..313
                     /region_name="PLPDE_III_ODC"
                     /note="Type III Pyridoxal 5-phosphate (PLP)-Dependent
                     Enzyme Ornithine Decarboxylase; cd00622"
                     /db_xref="CDD:143482"
     Site            order(22,27,40,43,47,74..76,197,199..200,210,223,225,
                     228..229,237,239,263,265,267,270,299,301,303..305,307)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143482"
     Site            order(60,103,106,142..143,180..183,238,266,295)
                     /site_type="active"
                     /db_xref="CDD:143482"
     Site            order(237..238,266..267,295,303)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:143482"
     CDS             1..365
                     /gene="AZIN2"
                     /gene_synonym="ADC; AZI2; AZIB1; ODC-p; ODC1L; ODCp"
                     /coded_by="NM_001350400.2:653..1750"
                     /note="isoform 2 is encoded by transcript variant 10"
                     /db_xref="GeneID:113451"
                     /db_xref="HGNC:HGNC:29957"
                     /db_xref="MIM:608353"
ORIGIN      
        1 melvqhigip askiicanpc kqiaqikyaa khgiqllsfd nemelakvvk shpsakmvlc
       61 iatddshsls clslkfgvsl kscrhllena kkhhvevvgv sfhigsgcpd pqayaqsiad
      121 arlvfemgte lghkmhvldl gggfpgtega kvrfeeiasv insaldlyfp egcgvdifae
      181 lgryyvtsaf tvavsiiakk evlldqpgre eengstskti vyhldegvyg ifnsvlfdni
      241 cptpilqkkp steqplysss lwgpavdgcd cvaeglwlpq lhvgdwlvfd nmgaytvgmg
      301 spfwgtqach ityamsrvaw ealrrqlmaa eqeddvegvc kplscgweit dtlcvgpvft
      361 pasim
//
LOCUS       NP_705871               1073 aa            linear   PRI 26-DEC-2022
DEFINITION  semaphorin-6D isoform 4 precursor [Homo sapiens].
ACCESSION   NP_705871
VERSION     NP_705871.1
DBSOURCE    REFSEQ: accession NM_153618.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1073)
  AUTHORS   Thomas T, Perdue MV, Khalaf S, Landi N, Hoeft F, Pugh K and
            Grigorenko EL.
  TITLE     Neuroimaging genetic associations between SEMA6D, brain structure,
            and reading skills
  JOURNAL   J Clin Exp Neuropsychol 43 (3), 276-289 (2021)
   PUBMED   33960276
  REMARK    GeneRIF: Neuroimaging genetic associations between SEMA6D, brain
            structure, and reading skills.
REFERENCE   2  (residues 1 to 1073)
  AUTHORS   Gong X, Li W, Dong L and Qu F.
  TITLE     CircUBAP2 promotes SEMA6D expression to enhance the cisplatin
            resistance in osteosarcoma through sponging miR-506-3p by
            activating Wnt/beta-catenin signaling pathway
  JOURNAL   J Mol Histol 51 (4), 329-340 (2020)
   PUBMED   32472335
  REMARK    GeneRIF: CircUBAP2 promotes SEMA6D expression to enhance the
            cisplatin resistance in osteosarcoma through sponging miR-506-3p by
            activating Wnt/beta-catenin signaling pathway.
            Erratum:[J Mol Histol. 2020 Jul 14;:. PMID: 32666371]
REFERENCE   3  (residues 1 to 1073)
  AUTHORS   Zouboulis CC, Nogueira da Costa A, Fimmel S and Zouboulis KC.
  TITLE     Apocrine glands are bystanders in hidradenitis suppurativa and
            their involvement is gender specific
  JOURNAL   J Eur Acad Dermatol Venereol 34 (7), 1555-1563 (2020)
   PUBMED   32031713
REFERENCE   4  (residues 1 to 1073)
  AUTHORS   Qu S, Yang Z, Tao H, Ji F, Chen P, Liang J and Lu Y.
  TITLE     [Semaphorin 6D and Snail are highly expressed in gastric cancer and
            positively correlated with malignant clinicopathological indexes]
  JOURNAL   Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 35 (10), 932-937 (2019)
   PUBMED   31814570
  REMARK    GeneRIF: The high expression of SEMA6D and Snail in gastric cancer
            are related to the malignant clinicopathological indexes of gastric
            cancer.
REFERENCE   5  (residues 1 to 1073)
  AUTHORS   Papic N, Zidovec Lepej S, Gorenec L, Grgic I, Gasparov S, Filipec
            Kanizaj T and Vince A.
  TITLE     The association of semaphorins 3C, 5A and 6D with liver fibrosis
            stage in chronic hepatitis C
  JOURNAL   PLoS One 13 (12), e0209481 (2018)
   PUBMED   30592759
  REMARK    GeneRIF: Study provide the first evidence that SEMA3C, SEMA5A and
            SEMA6D can be considered as markers of liver injury in chronic
            hepatitis C. While serum concentrations of SEMA3C and SEMA6D
            significantly increased with fibrosis stage in both HCV-g1 and
            HCV-g3 infections, the concentration of SEMA5A inversely correlated
            with fibrosis stage in both HCV genotypes.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1073)
  AUTHORS   Takegahara N, Takamatsu H, Toyofuku T, Tsujimura T, Okuno T, Yukawa
            K, Mizui M, Yamamoto M, Prasad DV, Suzuki K, Ishii M, Terai K,
            Moriya M, Nakatsuji Y, Sakoda S, Sato S, Akira S, Takeda K, Inui M,
            Takai T, Ikawa M, Okabe M, Kumanogoh A and Kikutani H.
  TITLE     Plexin-A1 and its interaction with DAP12 in immune responses and
            bone homeostasis
  JOURNAL   Nat Cell Biol 8 (6), 615-622 (2006)
   PUBMED   16715077
REFERENCE   7  (residues 1 to 1073)
  AUTHORS   Toyofuku T, Zhang H, Kumanogoh A, Takegahara N, Suto F, Kamei J,
            Aoki K, Yabuki M, Hori M, Fujisawa H and Kikutani H.
  TITLE     Dual roles of Sema6D in cardiac morphogenesis through
            region-specific association of its receptor, Plexin-A1, with
            off-track and vascular endothelial growth factor receptor type 2
  JOURNAL   Genes Dev 18 (4), 435-447 (2004)
   PUBMED   14977921
REFERENCE   8  (residues 1 to 1073)
  AUTHORS   Qu X, Wei H, Zhai Y, Que H, Chen Q, Tang F, Wu Y, Xing G, Zhu Y,
            Liu S, Fan M and He F.
  TITLE     Identification, characterization, and functional study of the two
            novel human members of the semaphorin gene family
  JOURNAL   J Biol Chem 277 (38), 35574-35585 (2002)
   PUBMED   12110693
  REMARK    GeneRIF: identification, characterization, and functional study of
            the two novel human members of the semaphorin gene family
REFERENCE   9  (residues 1 to 1073)
  AUTHORS   He Z, Wang KC, Koprivica V, Ming G and Song HJ.
  TITLE     Knowing how to navigate: mechanisms of semaphorin signaling in the
            nervous system
  JOURNAL   Sci STKE 2002 (119), re1 (2002)
   PUBMED   11842242
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   10 (residues 1 to 1073)
  AUTHORS   Kinoshita T and Inoue N.
  TITLE     Dissecting and manipulating the pathway for
            glycosylphos-phatidylinositol-anchor biosynthesis
  JOURNAL   Curr Opin Chem Biol 4 (6), 632-638 (2000)
   PUBMED   11102867
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC044787.6 and AF389429.1.
            
            Summary: Semaphorins are a large family, including both secreted
            and membrane associated proteins, many of which have been
            implicated as inhibitors or chemorepellents in axon pathfinding,
            fasciculation and branching, and target selection. All semaphorins
            possess a semaphorin (Sema) domain and a PSI domain (found in
            plexins, semaphorins and integrins) in the N-terminal extracellular
            portion. Additional sequence motifs C-terminal to the semaphorin
            domain allow classification into distinct subfamilies. Results
            demonstrate that transmembrane semaphorins, like the secreted ones,
            can act as repulsive axon guidance cues. This gene encodes a class
            6 vertebrate transmembrane semaphorin that demonstrates alternative
            splicing. Several transcript variants have been identified and
            expression of the distinct encoded isoforms is thought to be
            regulated in a tissue- and development-dependent manner. [provided
            by RefSeq, Nov 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF389429.1, SRR1803611.3307.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1073
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     Protein         1..1073
                     /product="semaphorin-6D isoform 4 precursor"
                     /note="sema domain, transmembrane domain (TM), and
                     cytoplasmic domain, (semaphorin) 6D"
                     /calculated_mol_wt=117537
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2354
     Region          49..513
                     /region_name="Sema_6D"
                     /note="The Sema domain, a protein interacting module, of
                     semaphorin 6D (Sema6D); cd11269"
                     /db_xref="CDD:200530"
     Site            51
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Site            order(109..112,163..164,189,191..192,199,213..215,220,
                     267..268,271,394)
                     /site_type="other"
                     /note="plexin binding site [polypeptide binding]"
                     /db_xref="CDD:200530"
     Site            order(244,286,288,290..292,294,318,320..324,353,415..416,
                     418)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:200530"
     Site            283
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Site            435
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Site            461
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Region          514..569
                     /region_name="PSI"
                     /note="Plexin repeat; pfam01437"
                     /db_xref="CDD:396154"
     Site            631
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Site            663..683
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Site            723
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Site            734
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q76KF0; propagated from
                     UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Region          744..775
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Site            744
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Site            773
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Region          787..825
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Region          839..874
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Region          914..1005
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Site            931
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Site            957
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Site            983
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NFY4.1)"
     Region          1021..1073
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFY4.1)"
     CDS             1..1073
                     /gene="SEMA6D"
                     /coded_by="NM_153618.2:837..4058"
                     /note="isoform 4 precursor is encoded by transcript
                     variant 4"
                     /db_xref="CCDS:CCDS32225.1"
                     /db_xref="GeneID:80031"
                     /db_xref="HGNC:HGNC:16770"
                     /db_xref="MIM:609295"
ORIGIN      
        1 mrvfllcayi lllmvsqlra vsfpeddepl ntvdyhysrq ypvfrgrpsg nesqhrldfq
       61 lmlkirdtly iagrdqvytv nlnempktev ipnkkltwrs rqqdrencam kgkhkdechn
      121 fikvfvprnd emvfvcgtna fnpmcryyrl stleydgeei sglarcpfda rqtnvalfad
      181 gklysatvad flasdaviyr smgdgsalrt ikydskwike phflhaieyg nyvyfffrei
      241 avehnnlgka vysrvarick ndmggsqrvl ekhwtsflka rlncsvpgds ffyfdvlqsi
      301 tdiiqingip tvvgvfttql nsipgsavca fsmddiekvf kgrfkeqktp dsvwtavped
      361 kvpkprpgcc akhglaeayk tsidfpdetl sfikshplmd savppiadep wftktrvryr
      421 ltaisvdhsa gpyqnytvif vgseagmvlk vlaktspfsl ndsvlleeie aynhakcsae
      481 needkkvisl qldkdhhaly vafssciiri plsrcerygs ckksciasrd pycgwlsqgs
      541 cgrvtpgmla egyeqdtefg ntahlgdche ilptsttpdy kifggptsdm evssssvttm
      601 asipeitpkv idtwrpklts srkfvvqddp ntsdftdpls gipkgvrwev qsgesnqmvh
      661 mnvlitcvfa afvlgafiag vavycyrdmf vrknrkihkd aesaqsctds sgsfaklngl
      721 fdspvkeyqq nidspklysn lltsrkelpp ngdtksmvmd hrgqppelaa lptpestpvl
      781 hqktlqamks hsekahghga srketpqffp ssppphspls hghipsaivl pnathdynts
      841 fsnsnahkae kklqnidhpl tkssskrdhr rsvdsrntln dllkhlndpn snpkaimgdi
      901 qmahqnlmld pmgsmsevpp kvpnreasly sppstlprns ptkrvdvptt pgvpmtsler
      961 qrgyhknssq rhsisampkn lnspngvlls rqpsmnrggy mptptgakvd yiqgtpvsvh
     1021 lqpslsrqss ytsngtlprt glkrtpslkp dvppkpsfvp qtpsvrplnk yty
//
LOCUS       NP_001291750             125 aa            linear   PRI 27-DEC-2022
DEFINITION  TSSK6-activating co-chaperone protein isoform a [Homo sapiens].
ACCESSION   NP_001291750
VERSION     NP_001291750.1
DBSOURCE    REFSEQ: accession NM_001304821.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 125)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 125)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 125)
  AUTHORS   Jha KN, Wong L, Zerfas PM, De Silva RS, Fan YX, Spiridonov NA and
            Johnson GR.
  TITLE     Identification of a novel HSP70-binding cochaperone critical to
            HSP90-mediated activation of small serine/threonine kinase
  JOURNAL   J Biol Chem 285 (45), 35180-35187 (2010)
   PUBMED   20829357
REFERENCE   4  (residues 1 to 125)
  AUTHORS   Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura
            Y and Kamatani N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   5  (residues 1 to 125)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL589685.17, HY044099.1, HY230397.1 and BC014605.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2, 3, 4, 5, and 6 all encode the same
            isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.99923.1,
                                           SRR5189667.327867.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..125
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     Protein         1..125
                     /product="TSSK6-activating co-chaperone protein isoform a"
                     /note="SSTK-interacting protein (SSTK-IP);
                     TSSK6-activating co-chaperone protein; TSSK6 activating
                     co-chaperone"
                     /calculated_mol_wt=13539
     Region          1..125
                     /region_name="SSTK-IP"
                     /note="SSTK-interacting protein, TSSK6-activating
                     co-chaperone protein; pfam15836"
                     /db_xref="CDD:406308"
     Region          1..23
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A04.1)"
     Region          97..125
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A04.1)"
     CDS             1..125
                     /gene="TSACC"
                     /gene_synonym="C1orf182; SIP; SSTK-IP"
                     /coded_by="NM_001304821.2:464..841"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1141.1"
                     /db_xref="GeneID:128229"
                     /db_xref="HGNC:HGNC:30636"
                     /db_xref="MIM:619679"
ORIGIN      
        1 merhtshpnr kvpakeeana vplcrakpsp syinlqassp patflniqtt klpsvdhkpk
       61 eclgllecmy anlqlqtqla qqqmavlehl qasvtqlapg rgsnnsslpa lspnpllnhl
      121 pqfsk
//
LOCUS       NP_001186980             240 aa            linear   PRI 28-DEC-2022
DEFINITION  N-acetylneuraminate lyase isoform 4 [Homo sapiens].
ACCESSION   NP_001186980
VERSION     NP_001186980.1
DBSOURCE    REFSEQ: accession NM_001200051.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 240)
  AUTHORS   Kentache T, Thabault L, Deumer G, Haufroid V, Frederick R, Linster
            CL, Peracchi A, Veiga-da-Cunha M, Bommer GT and Van Schaftingen E.
  TITLE     The metalloprotein YhcH is an anomerase providing
            N-acetylneuraminate aldolase with the open form of its substrate
  JOURNAL   J Biol Chem 296, 100699 (2021)
   PUBMED   33895133
REFERENCE   2  (residues 1 to 240)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 240)
  AUTHORS   Bergfeld AK, Pearce OM, Diaz SL, Pham T and Varki A.
  TITLE     Metabolism of vertebrate amino sugars with N-glycolyl groups:
            elucidating the intracellular fate of the non-human sialic acid
            N-glycolylneuraminic acid
  JOURNAL   J Biol Chem 287 (34), 28865-28881 (2012)
   PUBMED   22692205
REFERENCE   4  (residues 1 to 240)
  AUTHORS   Chu HY, Zheng QC, Zhao YS and Zhang HX.
  TITLE     Homology modeling and molecular dynamics study on
            N-acetylneuraminate lyase
  JOURNAL   J Mol Model 15 (3), 323-328 (2009)
   PUBMED   19057931
  REMARK    GeneRIF: 3D structure model of N-acetylneuraminate lyase from human
            (hNAL, EC 4.1.3.3) was created and refined
REFERENCE   5  (residues 1 to 240)
  AUTHORS   Wu,M., Gu,S., Xu,J., Zou,X., Zheng,H., Jin,Z., Xie,Y., Ji,C. and
            Mao,Y.
  TITLE     A novel splice variant of human gene NPL, mainly expressed in human
            liver, kidney and peripheral blood leukocyte
  JOURNAL   DNA Seq 16 (2), 137-142 (2005)
   PUBMED   16147865
  REMARK    GeneRIF: an NPL splice variant is mainly expressed in human liver,
            kidney and peripheral blood leukocytes
REFERENCE   6  (residues 1 to 240)
  AUTHORS   Bulai T, Bratosin D, Artenie V and Montreuil J.
  TITLE     Characterization of a sialate pyruvate-lyase in the cytosol of
            human erythrocytes
  JOURNAL   Biochimie 84 (7), 655-660 (2002)
   PUBMED   12453637
REFERENCE   7  (residues 1 to 240)
  AUTHORS   Traving C, Bruse P, Wachter A and Schauer R.
  TITLE     The sialate-pyruvate lyase from pig kidney. Elucidation of the
            primary structure and expression of recombinant enzyme activity
  JOURNAL   Eur J Biochem 268 (24), 6473-6486 (2001)
   PUBMED   11737202
REFERENCE   8  (residues 1 to 240)
  AUTHORS   Sood R, Bonner TI, Makalowska I, Stephan DA, Robbins CM, Connors
            TD, Morgenbesser SD, Su K, Faruque MU, Pinkett H, Graham C,
            Baxevanis AD, Klinger KW, Landes GM, Trent JM and Carpten JD.
  TITLE     Cloning and characterization of 13 novel transcripts and the human
            RGS8 gene from the 1q25 region encompassing the hereditary prostate
            cancer (HPC1) locus
  JOURNAL   Genomics 73 (2), 211-222 (2001)
   PUBMED   11318611
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC058003.1 and AI249145.1.
            
            Summary: This gene encodes a member of the N-acetylneuraminate
            lyase sub-family of (beta/alpha)(8)-barrel enzymes.
            N-acetylneuraminate lyases regulate cellular concentrations of
            N-acetyl-neuraminic acid (sialic acid) by mediating the reversible
            conversion of sialic acid into N-acetylmannosamine and pyruvate. A
            pseudogene of this gene is located on the short arm of chromosome
            2. Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Jan
            2011].
            
            Transcript Variant: This variant (4) has multiple differences in
            the 3' coding region, compared to variant 1. The encoded isoform
            (4) is shorter and has a distinct C-terminus, compared to isoform
            1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC058003.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.3"
     Protein         1..240
                     /product="N-acetylneuraminate lyase isoform 4"
                     /EC_number="4.1.3.3"
                     /note="dihydrodipicolinate synthetase homolog 1; NALase;
                     sialic acid aldolase; sialate-pyruvate lyase;
                     N-acetylneuraminic acid aldolase; N-acetylneuraminate
                     pyruvate lyase (dihydrodipicolinate synthase)"
                     /calculated_mol_wt=26634
     Region          8..>209
                     /region_name="TIM"
                     /note="TIM-like beta/alpha barrel domains; cl21457"
                     /db_xref="CDD:451249"
     Site            173
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:188634"
     CDS             1..240
                     /gene="NPL"
                     /gene_synonym="C112; C1orf13; NAL; NPL1"
                     /coded_by="NM_001200051.2:105..827"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS55666.1"
                     /db_xref="GeneID:80896"
                     /db_xref="HGNC:HGNC:16781"
                     /db_xref="MIM:611412"
ORIGIN      
        1 mafpkkklqg lvaatitpmt engeinfsvi gqyvdylvke qgvknifvng ttgeglslsv
       61 serrqvaeew vtkgkdkldq viihvgalsl kesqelaqha aeigadgiav iapfflkpwt
      121 kdilinflke vaaaapalpf yyyhipaltg vkiraeelld gildkiptfq glkfsdtdll
      181 dfgqcvdqnr qqqfaflfgv defciqrfin fvvklenskl kvsknqrtlp lgttnfpflh
//
LOCUS       NP_001363683             571 aa            linear   PRI 28-DEC-2022
DEFINITION  pre-mRNA 3'-end-processing factor FIP1 isoform 14 [Homo sapiens].
ACCESSION   NP_001363683 XP_005265831
VERSION     NP_001363683.1
DBSOURCE    REFSEQ: accession NM_001376754.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 571)
  AUTHORS   Muckenfuss LM, Migenda Herranz AC, Boneberg FM, Clerici M and Jinek
            M.
  TITLE     Fip1 is a multivalent interaction scaffold for processing factors
            in human mRNA 3' end biogenesis
  JOURNAL   Elife 11, e80332 (2022)
   PUBMED   36073787
  REMARK    GeneRIF: Fip1 is a multivalent interaction scaffold for processing
            factors in human mRNA 3' end biogenesis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 571)
  AUTHORS   Tennenbaum J, Groh M, Venditti L, Campos-Gazeau F, Chalayer E, De
            Broucker T, Hamidou M, Hunault M, Lyoubi A, Meunier R, Muron T,
            Sene D, Slama B, Guidoux C, Lefevre G, Kahn JE, Denier C and Rohmer
            J.
  TITLE     FIP1L1-PDGFRA-Associated Hypereosinophilic Syndrome as a Treatable
            Cause of Watershed Infarction
  JOURNAL   Stroke 52 (10), e605-e609 (2021)
   PUBMED   34304603
  REMARK    GeneRIF: FIP1L1-PDGFRA-Associated Hypereosinophilic Syndrome as a
            Treatable Cause of Watershed Infarction.
REFERENCE   3  (residues 1 to 571)
  AUTHORS   Helbig G, Lewandowski K, Swiderska A, Rodzaj M, Seferynska I and
            Gajkowska-Kulik J.
  TITLE     Exquisite response to imatinib mesylate in FIP1L1-PDGFRA-mutated
            hypereosinophilic syndrome: a 12-year experience of the Polish
            Hypereosinophilic Syndrome Study Group
  JOURNAL   Pol Arch Intern Med 130 (3), 255-257 (2020)
   PUBMED   32125294
  REMARK    GeneRIF: Exquisite response to imatinib mesylate in
            FIP1L1-PDGFRA-mutated hypereosinophilic syndrome: a 12-year
            experience of the Polish Hypereosinophilic Syndrome Study Group.
REFERENCE   4  (residues 1 to 571)
  AUTHORS   Skarp S, Kamarainen OP, Wei GH, Jakkula E, Kiviranta I, Kroger H,
            Auvinen J, Lehenkari P, Ala-Kokko L and Mannikko M.
  TITLE     Whole exome sequencing in Finnish families identifies new candidate
            genes for osteoarthritis
  JOURNAL   PLoS One 13 (8), e0203313 (2018)
   PUBMED   30157244
  REMARK    GeneRIF: Two identified variants revealed novel candidate genes for
            hip and knee osteoarthritis. OLIG3 and FIP1L1 have specific roles
            in transcription and may effect expression of other genes.
            Identified variants in these genes may thus have a role in the
            regulatory events leading to osteoarthritis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 571)
  AUTHORS   Hilal T, Fauble V, Ketterling RP and Kelemen K.
  TITLE     Myeloid neoplasm with eosinophilia associated with isolated
            extramedullary FIP1L1/PDGFRA rearrangement
  JOURNAL   Cancer Genet 220, 13-18 (2018)
   PUBMED   29310833
  REMARK    GeneRIF: Herein, we report a case of a 53-year-old man with
            eosinophilia and a well-differentiated extramedullary myeloid tumor
            with evidence of FIP1L1/PDGFRA rearrangement by fluorescent in situ
            hybridization in the extramedullary tissue.
REFERENCE   6  (residues 1 to 571)
  AUTHORS   Cools J, Quentmeier H, Huntly BJ, Marynen P, Griffin JD, Drexler HG
            and Gilliland DG.
  TITLE     The EOL-1 cell line as an in vitro model for the study of
            FIP1L1-PDGFRA-positive chronic eosinophilic leukemia
  JOURNAL   Blood 103 (7), 2802-2805 (2004)
   PUBMED   14630792
  REMARK    GeneRIF: results indicate that the fusion of FIP1L1 to PDGFRA
            occurs rarely in leukemia cell lines
REFERENCE   7  (residues 1 to 571)
  AUTHORS   Kaufmann I, Martin G, Friedlein A, Langen H and Keller W.
  TITLE     Human Fip1 is a subunit of CPSF that binds to U-rich RNA elements
            and stimulates poly(A) polymerase
  JOURNAL   EMBO J 23 (3), 616-626 (2004)
   PUBMED   14749727
REFERENCE   8  (residues 1 to 571)
  AUTHORS   Pardanani A, Ketterling RP, Brockman SR, Flynn HC, Paternoster SF,
            Shearer BM, Reeder TL, Li CY, Cross NC, Cools J, Gilliland DG,
            Dewald GW and Tefferi A.
  TITLE     CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in
            systemic mastocytosis associated with eosinophilia and predicts
            response to imatinib mesylate therapy
  JOURNAL   Blood 102 (9), 3093-3096 (2003)
   PUBMED   12842979
  REMARK    GeneRIF: observations suggest that the FIP1L1-PDGFRA rearrangement
            occurs in an early hematopoietic progenitor and suggests that the
            molecular pathogenesis for a subset of SMCD patients is similar to
            that of HES
REFERENCE   9  (residues 1 to 571)
  AUTHORS   Griffin JH, Leung J, Bruner RJ, Caligiuri MA and Briesewitz R.
  TITLE     Discovery of a fusion kinase in EOL-1 cells and idiopathic
            hypereosinophilic syndrome
  JOURNAL   Proc Natl Acad Sci U S A 100 (13), 7830-7835 (2003)
   PUBMED   12808148
REFERENCE   10 (residues 1 to 571)
  AUTHORS   Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, Cortes J,
            Kutok J, Clark J, Galinsky I, Griffin JD, Cross NC, Tefferi A,
            Malone J, Alam R, Schrier SL, Schmid J, Rose M, Vandenberghe P,
            Verhoef G, Boogaerts M, Wlodarska I, Kantarjian H, Marynen P,
            Coutre SE, Stone R and Gilliland DG.
  TITLE     A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes
            as a therapeutic target of imatinib in idiopathic hypereosinophilic
            syndrome
  JOURNAL   N Engl J Med 348 (13), 1201-1214 (2003)
   PUBMED   12660384
  REMARK    GeneRIF: The hypereosinophilic syndrome may result from a novel
            fusion tyrosine kinase - FIP1L1-PDGFRalpha - that is a consequence
            of an interstitial chromosomal deletion.
            GeneRIF: Describes the fusion gene Fip1-like-1-PDGFRalpha in
            patients with idiopathic hypereosinophilic syndrome, mostly
            responsive to imatinib therapy.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC098821.3 and AC058822.6.
            On Nov 20, 2019 this sequence version replaced XP_005265831.1.
            
            Summary: This gene encodes a subunit of the CPSF (cleavage and
            polyadenylation specificity factor) complex that polyadenylates the
            3' end of mRNA precursors. This gene, the homolog of yeast Fip1
            (factor interacting with PAP), binds to U-rich sequences of
            pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus
            contains a PAP-binding site and its C-terminus an RNA-binding
            domain. An interstitial chromosomal deletion on 4q12 creates an
            in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived
            growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene
            encodes a constitutively activated tyrosine kinase that joins the
            first 233 amino acids of FIP1L1 to the last 523 amino acids of
            PDGFRA. This gene fusion and chromosomal deletion is the cause of
            some forms of idiopathic hypereosinophilic syndrome (HES). This
            syndrome, recently reclassified as chronic eosinophilic leukemia
            (CEL), is responsive to treatment with tyrosine kinase inhibitors.
            Alternative splicing results in multiple transcript variants
            encoding distinct isoforms. [provided by RefSeq, Oct 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1102660.1,
                                           SRR18074967.4019909.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..571
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     Protein         1..571
                     /product="pre-mRNA 3'-end-processing factor FIP1 isoform
                     14"
                     /note="rearranged in hypereosinophilia; pre-mRNA
                     3'-end-processing factor FIP1; FIP1-like 1 protein; factor
                     interacting with PAP; FIP1 like 1; FIP1L1 cleavage and
                     polyadenylation specific factor subunit"
                     /calculated_mol_wt=63842
     Region          154..196
                     /region_name="Fip1"
                     /note="Fip1 motif; pfam05182"
                     /db_xref="CDD:398722"
     CDS             1..571
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /coded_by="NM_001376754.1:199..1914"
                     /note="isoform 14 is encoded by transcript variant 14"
                     /db_xref="CCDS:CCDS93506.1"
                     /db_xref="GeneID:81608"
                     /db_xref="HGNC:HGNC:19124"
                     /db_xref="MIM:607686"
ORIGIN      
        1 msageverlv selsggtggd eeeewlyggp wdvhvhsdla kdldenever peeenasanp
       61 psgiedetae ngvpkpkvte teddsdsdsd ddeddvhvti gdiktgapqy gsygtapvnl
      121 niktggrvyg ttgtkvkgvd ldapgsingv pllevdldsf edkpwrkpga dlsdyfnygf
      181 nedtwkayce kqkrirmgle vipvtsttnk itvqqgrtgn seketalpst kaeftsppsl
      241 fktglppsrn stssqsqtst asrkanssvg kwqdrygrae spdlrrlpga idvigqtiti
      301 srvegrrran ensniqvlse rsatevdnnf skpppffppg appthlpppp flpppptvst
      361 applipppgf ppppgappps liptiesghs sgydsrsara fpygnvafph lpgsapswps
      421 lvdtskqwdy yarrekdrdr erdrdrerdr drdrerertr erererdhsp tpsvfnsdee
      481 ryryreyaer gyerhrasre keerhrerrh rekeetrhks srsnsrrrhe seegdshrrh
      541 khkkskrske gkeagsepap eqesteatpa e
//
LOCUS       NP_112487                109 aa            linear   PRI 28-DEC-2022
DEFINITION  SRA stem-loop-interacting RNA-binding protein, mitochondrial
            isoform 1 precursor [Homo sapiens].
ACCESSION   NP_112487
VERSION     NP_112487.1
DBSOURCE    REFSEQ: accession NM_031210.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 109)
  AUTHORS   Guo L, Engelen BPH, Hemel IMGM, de Coo IFM, Vreeburg M, Sallevelt
            SCEH, Hellebrekers DMEI, Jacobs EH, Sadeghi-Niaraki F, van Tienen
            FHJ, Smeets HJM and Gerards M.
  TITLE     Pathogenic SLIRP variants as a novel cause of autosomal recessive
            mitochondrial encephalomyopathy with complex I and IV deficiency
  JOURNAL   Eur J Hum Genet 29 (12), 1789-1795 (2021)
   PUBMED   34426662
  REMARK    GeneRIF: Pathogenic SLIRP variants as a novel cause of autosomal
            recessive mitochondrial encephalomyopathy with complex I and IV
            deficiency.
REFERENCE   2  (residues 1 to 109)
  AUTHORS   Bruni F, Proctor-Kent Y, Lightowlers RN and Chrzanowska-Lightowlers
            ZM.
  TITLE     Messenger RNA delivery to mitoribosomes - hints from a bacterial
            toxin
  JOURNAL   FEBS J 288 (2), 437-451 (2021)
   PUBMED   32329962
  REMARK    GeneRIF: Messenger RNA delivery to mitoribosomes - hints from a
            bacterial toxin.
REFERENCE   3  (residues 1 to 109)
  AUTHORS   Shan D, Arhin SK, Zhao J, Xi H, Zhang F, Zhu C and Hu Y.
  TITLE     Effects of SLIRP on Sperm Motility and Oxidative Stress
  JOURNAL   Biomed Res Int 2020, 9060356 (2020)
   PUBMED   33150185
  REMARK    GeneRIF: Effects of SLIRP on Sperm Motility and Oxidative Stress.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 109)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 109)
  AUTHORS   De Silva D, Zhang Z, Liu Y, Parker JS, Xu C, Cai L, Wang GG, Earp
            HS and Whang YE.
  TITLE     Interaction between androgen receptor and coregulator SLIRP is
            regulated by Ack1 tyrosine kinase and androgen
  JOURNAL   Sci Rep 9 (1), 18637 (2019)
   PUBMED   31819114
  REMARK    GeneRIF: Interaction between androgen receptor and coregulator
            SLIRP is regulated by Ack1 tyrosine kinase and androgen.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 109)
  AUTHORS   Zhao X, Leon IR, Bak S, Mogensen M, Wrzesinski K, Hojlund K and
            Jensen ON.
  TITLE     Phosphoproteome analysis of functional mitochondria isolated from
            resting human muscle reveals extensive phosphorylation of inner
            membrane protein complexes and enzymes
  JOURNAL   Mol Cell Proteomics 10 (1), M110.000299 (2011)
   PUBMED   20833797
REFERENCE   7  (residues 1 to 109)
  AUTHORS   Sasarman F, Brunel-Guitton C, Antonicka H, Wai T and Shoubridge EA.
  CONSRTM   LSFC Consortium
  TITLE     LRPPRC and SLIRP interact in a ribonucleoprotein complex that
            regulates posttranscriptional gene expression in mitochondria
  JOURNAL   Mol Biol Cell 21 (8), 1315-1323 (2010)
   PUBMED   20200222
  REMARK    GeneRIF: LRPPRC exists in a high-molecular-weight complex, and it
            coimmunoprecipitates with SLIRP, a stem-loop RNA-binding protein.
REFERENCE   8  (residues 1 to 109)
  AUTHORS   Baughman JM, Nilsson R, Gohil VM, Arlow DH, Gauhar Z and Mootha VK.
  TITLE     A computational screen for regulators of oxidative phosphorylation
            implicates SLIRP in mitochondrial RNA homeostasis
  JOURNAL   PLoS Genet 5 (8), e1000590 (2009)
   PUBMED   19680543
  REMARK    GeneRIF: SLIRP plays an essential role in maintaining
            mitochondrial-localized mRNA transcripts that encode OxPhos protein
            subunits.
            Erratum:[PLoS Genet. 2010;6(3). doi:
            10.1371/annotation/36fe7624-0904-46d4-a013-4be6195245c4]
REFERENCE   9  (residues 1 to 109)
  AUTHORS   Hatchell EC, Colley SM, Beveridge DJ, Epis MR, Stuart LM, Giles KM,
            Redfern AD, Miles LE, Barker A, MacDonald LM, Arthur PG, Lui JC,
            Golding JL, McCulloch RK, Metcalf CB, Wilce JA, Wilce MC, Lanz RB,
            O'Malley BW and Leedman PJ.
  TITLE     SLIRP, a small SRA binding protein, is a nuclear receptor
            corepressor
  JOURNAL   Mol Cell 22 (5), 657-668 (2006)
   PUBMED   16762838
  REMARK    GeneRIF: Our data demonstrate that SLIRP modulates NR
            transactivation, suggest it may regulate mitochondrial function,
            and provide mechanistic insight into interactions between SRA,
            SLIRP, SRC-1, and NCoR.
REFERENCE   10 (residues 1 to 109)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BU960115.1 and AY860853.1.
            
            Summary: Steroid receptor RNA activator (SRA, or SRA1; MIM 603819)
            is a complex RNA molecule containing multiple stable stem-loop
            structures that functions in coactivation of nuclear receptors.
            SLIRP interacts with stem-loop structure-7 of SRA (STR7) and
            modulates nuclear receptor transactivation (Hatchell et al., 2006
            [PubMed 16762838]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BM854520.1, BU534005.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000557342.6/
                                                  ENSP00000450909.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..109
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     Protein         1..109
                     /product="SRA stem-loop-interacting RNA-binding protein,
                     mitochondrial isoform 1 precursor"
                     /note="SRA stem-loop-interacting RNA-binding protein,
                     mitochondrial"
                     /calculated_mol_wt=12218
     Site            15
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9GZT3.1)"
     Region          20..92
                     /region_name="RRM_SLIRP"
                     /note="RNA recognition motif (RRM) found in SRA
                     stem-loop-interacting RNA-binding protein (SLIRP) and
                     similar proteins; cd12242"
                     /db_xref="CDD:409688"
     Site            101
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9GZT3.1)"
     Site            102
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9GZT3.1)"
     CDS             1..109
                     /gene="SLIRP"
                     /gene_synonym="C14orf156; DC50; PD04872"
                     /coded_by="NM_031210.6:10..339"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS9866.1"
                     /db_xref="GeneID:81892"
                     /db_xref="HGNC:HGNC:20495"
                     /db_xref="MIM:610211"
ORIGIN      
        1 maasaargaa alrrsinqpv afvrripwta assqlkehfa qfghvrrcil pfdketgfhr
       61 glgwvqfsse eglrnalqqe nhiidgvkvq vhtrrpklpq tsddekkdf
//
LOCUS       NP_115824                910 aa            linear   PRI 29-DEC-2022
DEFINITION  constitutive coactivator of peroxisome proliferator-activated
            receptor gamma isoform c [Homo sapiens].
ACCESSION   NP_115824
VERSION     NP_115824.1
DBSOURCE    REFSEQ: accession NM_032448.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 910)
  AUTHORS   Liu Z, Gao X, Zhou Z, Kang SW, Yang Y, Liu H, Zhang C, Wen Z, Rao
            X, Wang D, White D 3rd, Yang Q and Long Q.
  TITLE     San1 deficiency leads to cardiomyopathy due to excessive
            R-loop-associated DNA damage and cardiomyocyte hypoplasia
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1867 (11), 166237 (2021)
   PUBMED   34339838
  REMARK    GeneRIF: San1 deficiency leads to cardiomyopathy due to excessive
            R-loop-associated DNA damage and cardiomyocyte hypoplasia.
REFERENCE   2  (residues 1 to 910)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 910)
  AUTHORS   Andrews AM, McCartney HJ, Errington TM, D'Andrea AD and Macara IG.
  TITLE     A senataxin-associated exonuclease SAN1 is required for resistance
            to DNA interstrand cross-links
  JOURNAL   Nat Commun 9 (1), 2592 (2018)
   PUBMED   29968717
  REMARK    GeneRIF: Study report a previously uncharacterized protein, SAN1,
            the Fam120b gene product, as a 5' exonuclease that acts
            independently of the Fanconi anemia pathway in response to
            inter-strand DNA cross-links (ICLs). Deletion of SAN1 in HeLa cells
            and mouse embryonic fibroblasts causes sensitivity to ICLs. SAN1
            binds to senataxin (SETX). SAN1-SETX binding is increased by ICLs
            and is required to prevent cross-link sensitivity.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 910)
  AUTHORS   Bradfield JP, Qu HQ, Wang K, Zhang H, Sleiman PM, Kim CE, Mentch
            FD, Qiu H, Glessner JT, Thomas KA, Frackelton EC, Chiavacci RM,
            Imielinski M, Monos DS, Pandey R, Bakay M, Grant SF, Polychronakos
            C and Hakonarson H.
  TITLE     A genome-wide meta-analysis of six type 1 diabetes cohorts
            identifies multiple associated loci
  JOURNAL   PLoS Genet 7 (9), e1002293 (2011)
   PUBMED   21980299
REFERENCE   5  (residues 1 to 910)
  AUTHORS   Li D, Kang Q and Wang DM.
  TITLE     Constitutive coactivator of peroxisome proliferator-activated
            receptor (PPARgamma), a novel coactivator of PPARgamma that
            promotes adipogenesis
  JOURNAL   Mol Endocrinol 21 (10), 2320-2333 (2007)
   PUBMED   17595322
REFERENCE   6  (residues 1 to 910)
  AUTHORS   Holden S and Raymond FL.
  TITLE     The human gene CXorf17 encodes a member of a novel family of
            putative transmembrane proteins: cDNA cloning and characterization
            of CXorf17 and its mouse ortholog orf34
  JOURNAL   Gene 318, 149-161 (2003)
   PUBMED   14585507
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DQ873695.1, AK299890.1, AL008628.1 and AJ420589.1.
            
            Transcript Variant: This variant (3) contains an alternate 5' exon
            and it thus differs in its 5' UTR and initiates translation at a
            downstream in-frame start codon, compared to variant 1. The encoded
            isoform (c) is shorter at the N-terminus, compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.936290.1,
                                           SRR11853560.25564.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000476287.4/ ENSP00000417970.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..910
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q27"
     Protein         1..910
                     /product="constitutive coactivator of peroxisome
                     proliferator-activated receptor gamma isoform c"
                     /note="constitutive coactivator of peroxisome
                     proliferator-activated receptor gamma; PPARgamma
                     constitutive coactivator 1; PPARG constitutive coactivator
                     1; senataxin-associated nuclease 1; constitutive
                     coactivator of PPAR-gamma"
                     /calculated_mol_wt=103653
     Region          5..213
                     /region_name="PIN_FAM120B-like"
                     /note="FEN-like PIN domains of FAM120B (family with
                     sequence similarity 120B) and related proteins; cd18672"
                     /db_xref="CDD:350239"
     Site            order(96..104,126..134)
                     /site_type="other"
                     /note="helical arch"
                     /db_xref="CDD:350239"
     Region          333..416
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96EK7.1)"
     Region          443..483
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96EK7.1)"
     Region          863..910
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96EK7.1)"
     Site            885
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q96EK7.1)"
     CDS             1..910
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /coded_by="NM_032448.3:107..2839"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS5314.1"
                     /db_xref="GeneID:84498"
                     /db_xref="HGNC:HGNC:21109"
                     /db_xref="MIM:612266"
ORIGIN      
        1 mgvrglqgfv gstcphictv vnfkelaehh rskypgctpt ivvdamcclr ywytpeswic
       61 ggqwreyfsa lrdfvktfta agiklifffd gmveqdkrde wvkrrlknnr eisrifhyik
      121 shkeqpgrnm ffipsglavf trfalktlgq etlcslqead yevasyglqh nclgilgedt
      181 dyliydtcpy fsiselcles ldtvmlcrek lceslglcva dlpllacllg ndiipegmfe
      241 sfrykclssy tsvkenfdkk gniilavsdh iskvlylyqg ekkleeilpl gpnkalfykg
      301 masyllpgqk spwffqkpkg vitldkqvis tssdaesree vpmcsdaesr qevpmctgpe
      361 srrevpvytd seprqevpmc sdpeprqevp tctgpesrre vpmcsdpepr qevpmctgpe
      421 arqevpmytd seprqevpmy tdseprqevp mytgseprqe vpmytgpesr qevpmytgpe
      481 srqevlirtd pesrqeimct gheskqevpi ctdpiskqed smcthaeinq klpvatdfef
      541 klealmctnp eikqedptnv gpevkqqvtm vsdteilkva rthhvqaesy lvynimssge
      601 iecsntlede ldqalpsqaf iyrpirqrvy sllledcqdv tstclavkew fvypgnplrh
      661 pdlvrplqmt ipggtpslki lwlnqepeiq vrrldtllac fnlsssreel qavespfqal
      721 cclliylfvq vdtlcledlh afiaqalclq gkstsqlvnl qpdyinprav qlgsllvrgl
      781 ttlvlvnsac gfpwktsdfm pwnvfdgklf hqkylqsekg yavevlleqn rsrltkfhnl
      841 kavvckacmk enrritgrah wgshhagrwg rqgssyhrtg sgysrssqgq pwrdqgpgsr
      901 qyehdqwrry
//
LOCUS       NP_001138479             377 aa            linear   PRI 30-DEC-2022
DEFINITION  mucin-7 precursor [Homo sapiens].
ACCESSION   NP_001138479
VERSION     NP_001138479.1
DBSOURCE    REFSEQ: accession NM_001145007.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 377)
  AUTHORS   Saad EA, Elsaid AM, Shoaib RMS, Megahed KF and Elsharawy AN.
  TITLE     MUC7 VNTR polymorphism and association with bronchial asthma in
            Egyptian children
  JOURNAL   Sci Rep 12 (1), 18910 (2022)
   PUBMED   36344553
  REMARK    GeneRIF: MUC7 VNTR polymorphism and association with bronchial
            asthma in Egyptian children.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 377)
  AUTHORS   Chahal G, Quintana-Hayashi MP, Gaytan MO, Benktander J, Padra M,
            King SJ and Linden SK.
  TITLE     Streptococcus oralis Employs Multiple Mechanisms of Salivary Mucin
            Binding That Differ Between Strains
  JOURNAL   Front Cell Infect Microbiol 12, 889711 (2022)
   PUBMED   35782137
  REMARK    GeneRIF: Streptococcus oralis Employs Multiple Mechanisms of
            Salivary Mucin Binding That Differ Between Strains.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 377)
  AUTHORS   Hertel S, Hannig M, Hannig C and Sterzenbach T.
  TITLE     Mucins 5b and 7 and secretory IgA in the oral acquired pellicle of
            children with caries and caries-free children
  JOURNAL   Arch Oral Biol 134, 105314 (2022)
   PUBMED   34861462
  REMARK    GeneRIF: Mucins 5b and 7 and secretory IgA in the oral acquired
            pellicle of children with caries and caries-free children.
REFERENCE   4  (residues 1 to 377)
  AUTHORS   McQuaid IK, Dorfman JR and Mall AS.
  TITLE     The comparative inhibitory potency of salivary mucins against human
            immunodeficiency virus type 1
  JOURNAL   Virology 553, 1-8 (2021)
   PUBMED   33190061
  REMARK    GeneRIF: The comparative inhibitory potency of salivary mucins
            against human immunodeficiency virus type 1.
REFERENCE   5  (residues 1 to 377)
  AUTHORS   Acharya S, Jin C, Bylund J, Shen Q, Kamali-Moghaddam M, Jontell M,
            Carlen A and Karlsson NG.
  TITLE     Reduced sialyl-Lewisx on salivary MUC7 from patients with burning
            mouth syndrome
  JOURNAL   Mol Omics 15 (5), 331-339 (2019)
   PUBMED   31414088
  REMARK    GeneRIF: These data suggest a chemokine driven alteration of MUC7
            glycosylation in patients with burning mouth syndrome.
REFERENCE   6  (residues 1 to 377)
  AUTHORS   Bobek LA and Situ H.
  TITLE     MUC7 20-Mer: investigation of antimicrobial activity, secondary
            structure, and possible mechanism of antifungal action
  JOURNAL   Antimicrob Agents Chemother 47 (2), 643-652 (2003)
   PUBMED   12543672
  REMARK    GeneRIF: MUC7 is a salivary mucin with antimicrobial activity
            against bacteria and fungi.
REFERENCE   7  (residues 1 to 377)
  AUTHORS   Prakobphol A, Thomsson KA, Hansson GC, Rosen SD, Singer MS,
            Phillips NJ, Medzihradszky KF, Burlingame AL, Leffler H and Fisher
            SJ.
  TITLE     Human low-molecular-weight salivary mucin expresses the sialyl
            lewisx determinant and has L-selectin ligand activity
  JOURNAL   Biochemistry 37 (14), 4916-4927 (1998)
   PUBMED   9538010
REFERENCE   8  (residues 1 to 377)
  AUTHORS   Troxler RF, Iontcheva I, Oppenheim FG, Nunes DP and Offner GD.
  TITLE     Molecular characterization of a major high molecular weight mucin
            from human sublingual gland
  JOURNAL   Glycobiology 7 (7), 965-973 (1997)
   PUBMED   9363439
REFERENCE   9  (residues 1 to 377)
  AUTHORS   Bobek LA, Liu J, Sait SN, Shows TB, Bobek YA and Levine MJ.
  TITLE     Structure and chromosomal localization of the human salivary mucin
            gene, MUC7
  JOURNAL   Genomics 31 (3), 277-282 (1996)
   PUBMED   8838308
REFERENCE   10 (residues 1 to 377)
  AUTHORS   Bobek LA, Tsai H, Biesbrock AR and Levine MJ.
  TITLE     Molecular cloning, sequence, and specificity of expression of the
            gene encoding the low molecular weight human salivary mucin (MUC7)
  JOURNAL   J Biol Chem 268 (27), 20563-20569 (1993)
   PUBMED   7690757
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC108518.3.
            
            Summary: This gene encodes a small salivary mucin, which is thought
            to play a role in facilitating the clearance of bacteria in the
            oral cavity and to aid in mastication, speech, and swallowing. The
            central domain of this glycoprotein contains tandem repeats, each
            composed of 23 amino acids. This antimicrobial protein has
            antibacterial and antifungal activity. The most common allele
            contains 6 repeats, and some alleles may be associated with
            susceptibility to asthma. Alternatively spliced transcript variants
            with different 5' UTR, but encoding the same protein, have been
            found for this gene. [provided by RefSeq, Oct 2014].
            
            Transcript Variant: This variant (2) contains an alternate 5'
            terminal non-coding exon, hence has a different 5' UTR compared to
            transcript variant 1. Transcript variants 1, 2 and 3 encode the
            same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DB199851.1, DB205490.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            Protein has antimicrobial activity :: PMID: 12543672
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..377
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     Protein         1..377
                     /product="mucin-7 precursor"
                     /note="mucin 7, salivary; mucin-7; MUC-7; apo-MG2;
                     salivary mucin-7"
                     /calculated_mol_wt=36809
     sig_peptide     1..22
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2368
     mat_peptide     23..377
                     /product="mucin-7"
                     /calculated_mol_wt=36809
     mat_peptide     52..71
                     /product="MUC7 20-Mer"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     12543672]"
                     /calculated_mol_wt=2513
     Region          70..100
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAX7.2)"
     Site            97
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TAX7.2)"
     Site            128
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TAX7.2)"
     Site            135
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TAX7.2)"
     Region          <141..358
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     Site            146
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TAX7.2)"
     Region          150..355
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAX7.2)"
     Site            176
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) threonine, by GALNT13.
                     /evidence=ECO:0000269|PubMed:12407114; propagated from
                     UniProtKB/Swiss-Prot (Q8TAX7.2)"
     Site            182
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) serine, by GALNT13.
                     /evidence=ECO:0000269|PubMed:12407114; propagated from
                     UniProtKB/Swiss-Prot (Q8TAX7.2)"
     Site            183
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) serine, by GALNT13.
                     /evidence=ECO:0000269|PubMed:12407114; propagated from
                     UniProtKB/Swiss-Prot (Q8TAX7.2)"
     Site            188
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) threonine, by GALNT13.
                     /evidence=ECO:0000269|PubMed:12407114; propagated from
                     UniProtKB/Swiss-Prot (Q8TAX7.2)"
     Site            189
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) threonine, by GALNT13.
                     /evidence=ECO:0000269|PubMed:12407114; propagated from
                     UniProtKB/Swiss-Prot (Q8TAX7.2)"
     CDS             1..377
                     /gene="MUC7"
                     /gene_synonym="MG2"
                     /coded_by="NM_001145007.2:228..1361"
                     /db_xref="CCDS:CCDS3541.1"
                     /db_xref="GeneID:4589"
                     /db_xref="HGNC:HGNC:7518"
                     /db_xref="MIM:158375"
ORIGIN      
        1 mktlplfvci calsacfsfs egrerdhelr hrrhhhqspk shfelphypg llahqkpfir
       61 ksykclhkrc rpklppspnn ppkfpnphqp pkhpdknssv vnptlvattq ipsvtfpsas
      121 tkittlpnvt flpqnattis srenvntsss vatlapvnsp apqdttaapp tpsattpapp
      181 sssappetta apptpsattq appsssappe ttaapptppa ttpappsssa ppettaappt
      241 psattpapls ssappettav pptpsattld pssasappet taapptpsat tpappsspap
      301 qettaapitt pnsspttlap dtsetsaapt hqtttsvttq ttttkqptsa pgqnkisrfl
      361 lymknllnri iddmveq
//
LOCUS       NP_001373907             583 aa            linear   PRI 30-DEC-2022
DEFINITION  uncharacterized protein C17orf80 isoform c [Homo sapiens].
ACCESSION   NP_001373907
VERSION     NP_001373907.1
DBSOURCE    REFSEQ: accession NM_001386978.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 583)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 583)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   3  (residues 1 to 583)
  AUTHORS   Kim JM, Lee KH, Jeon YJ, Oh JH, Jeong SY, Song IS, Kim JM, Lee DS
            and Kim NS.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC097641.6 and AC087301.8.
            
            Transcript Variant: This variant (9), as well as variant 3, encodes
            isoform c.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1552780.1,
                                           SRR14038197.2339602.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..583
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     Protein         1..583
                     /product="uncharacterized protein C17orf80 isoform c"
                     /note="lung cancer-related protein 8; human lung cancer
                     oncogene 8 protein; cell migration-inducing gene 3
                     protein; sperm-expressed protein 1; uncharacterized
                     protein C17orf80"
                     /calculated_mol_wt=64595
     Region          142..168
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BSJ5.2)"
     Region          183..202
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BSJ5.2)"
     Region          410..441
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BSJ5.2)"
     Site            553..573
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BSJ5.2)"
     CDS             1..583
                     /gene="C17orf80"
                     /gene_synonym="HLC-8; MIG3; SPEP1"
                     /coded_by="NM_001386978.1:171..1922"
                     /note="isoform c is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS45767.1"
                     /db_xref="GeneID:55028"
                     /db_xref="HGNC:HGNC:29601"
ORIGIN      
        1 msdnpprmev cpyckkpfkr lkshlpyckm igptiptdqk vyqskpatlp rakkmkgpik
       61 dlikakgkel eteneernsk lvvdkpeqtv ktfplpavgl eraattkadk diknpiqpsf
      121 kmlkntkpmt tfqeetkaqf yasektspkr elakdlpksg esrcnpseag asllvgsiep
      181 slsnqdrkys stlpndvqtt sgdlkldkid pqrqellvkl ldvptgdchi spknvsdgvk
      241 rvrtllsner dskgrdhlsg vptdvtvtet peknteslil slkmsslgki qvmekqekgl
      301 tlgvetcgsk gnaeksmsat ekqertvmsh gcenfntrds vtgkesqger phlslfipre
      361 ttyqfhsvsq sssqslasla ttflqekkae aqnhhcvpdv kalmespegq lslepksdsq
      421 fqashtgcqs plcsaqrhtp qspftnhaaa agrktlrscm glewfpelyp gylglgvlpg
      481 kpqcwnamtq kpqlispqge rlsqvsller ssthirslep paglttsnfs lmrllgavqk
      541 gwircnttir ksgfggitml ftgyfvlccs wsfrrlklqr wrk
//
LOCUS       NP_001381898            1019 aa            linear   PRI 31-DEC-2022
DEFINITION  serine/threonine-protein kinase Nek10 isoform 11 [Homo sapiens].
ACCESSION   NP_001381898
VERSION     NP_001381898.1
DBSOURCE    REFSEQ: accession NM_001394969.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1019)
  AUTHORS   Haider N, Dutt P, van de Kooij B, Ho J, Palomero L, Pujana MA,
            Yaffe M and Stambolic V.
  TITLE     NEK10 tyrosine phosphorylates p53 and controls its transcriptional
            activity
  JOURNAL   Oncogene 39 (30), 5252-5266 (2020)
   PUBMED   32561851
  REMARK    GeneRIF: NEK10 tyrosine phosphorylates p53 and controls its
            transcriptional activity.
REFERENCE   2  (residues 1 to 1019)
  AUTHORS   Al Mutairi F, Alkhalaf R, Alkhorayyef A, Alroqi F, Yusra A, Umair
            M, Nouf F, Khan A, Meshael A, Hamad A, Monira A, Asiri A, Alhamoudi
            KM and Alfadhel M.
  TITLE     Homozygous truncating NEK10 mutation, associated with primary
            ciliary dyskinesia: a case report
  JOURNAL   BMC Pulm Med 20 (1), 141 (2020)
   PUBMED   32414360
  REMARK    GeneRIF: Homozygous truncating NEK10 mutation, associated with
            primary ciliary dyskinesia: a case report.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1019)
  AUTHORS   Chivukula RR, Montoro DT, Leung HM, Yang J, Shamseldin HE, Taylor
            MS, Dougherty GW, Zariwala MA, Carson J, Daniels MLA, Sears PR,
            Black KE, Hariri LP, Almogarri I, Frenkel EM, Vinarsky V, Omran H,
            Knowles MR, Tearney GJ, Alkuraya FS and Sabatini DM.
  TITLE     A human ciliopathy reveals essential functions for NEK10 in airway
            mucociliary clearance
  JOURNAL   Nat Med 26 (2), 244-251 (2020)
   PUBMED   31959991
  REMARK    GeneRIF: analysis of a bronchiectasis syndrome caused by mutations
            that inactivate NIMA-related kinase 10 (NEK10), a protein kinase
            with previously unknown in vivo functions in mammals
            Erratum:[Nat Med. 2020 Jan 29;:. PMID: 31996837]
REFERENCE   4  (residues 1 to 1019)
  AUTHORS   Moniz LS and Stambolic V.
  TITLE     Nek10 mediates G2/M cell cycle arrest and MEK autoactivation in
            response to UV irradiation
  JOURNAL   Mol Cell Biol 31 (1), 30-42 (2011)
   PUBMED   20956560
  REMARK    GeneRIF: Nek10 physically associated with Raf-1 and MEK1 in a
            Raf-1-dependent manner, and the formation of this complex was
            necessary for Nek10-mediated MEK1 activation.
REFERENCE   5  (residues 1 to 1019)
  AUTHORS   Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R,
            Morrison J, Maranian M, Pooley KA, Luben R, Eccles D, Evans DG,
            Fletcher O, Johnson N, dos Santos Silva I, Peto J, Stratton MR,
            Rahman N, Jacobs K, Prentice R, Anderson GL, Rajkovic A, Curb JD,
            Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE,
            Thun MJ, Diver WR, Bojesen S, Nordestgaard BG, Flyger H, Dork T,
            Schurmann P, Hillemanns P, Karstens JH, Bogdanova NV, Antonenkova
            NN, Zalutsky IV, Bermisheva M, Fedorova S, Khusnutdinova E, Kang D,
            Yoo KY, Noh DY, Ahn SH, Devilee P, van Asperen CJ, Tollenaar RA,
            Seynaeve C, Garcia-Closas M, Lissowska J, Brinton L, Peplonska B,
            Nevanlinna H, Heikkinen T, Aittomaki K, Blomqvist C, Hopper JL,
            Southey MC, Smith L, Spurdle AB, Schmidt MK, Broeks A, van Hien RR,
            Cornelissen S, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J,
            Schmutzler RK, Burwinkel B, Bartram CR, Meindl A, Brauch H,
            Justenhoven C, Hamann U, Chang-Claude J, Hein R, Wang-Gohrke S,
            Lindblom A, Margolin S, Mannermaa A, Kosma VM, Kataja V, Olson JE,
            Wang X, Fredericksen Z, Giles GG, Severi G, Baglietto L, English
            DR, Hankinson SE, Cox DG, Kraft P, Vatten LJ, Hveem K, Kumle M,
            Sigurdson A, Doody M, Bhatti P, Alexander BH, Hooning MJ, van den
            Ouweland AM, Oldenburg RA, Schutte M, Hall P, Czene K, Liu J, Li Y,
            Cox A, Elliott G, Brock I, Reed MW, Shen CY, Yu JC, Hsu GC, Chen
            ST, Anton-Culver H, Ziogas A, Andrulis IL, Knight JA, Beesley J,
            Goode EL, Couch F, Chenevix-Trench G, Hoover RN, Ponder BA, Hunter
            DJ, Pharoah PD, Dunning AM, Chanock SJ and Easton DF.
  CONSRTM   SEARCH; GENICA Consortium; kConFab; Australian Ovarian Cancer Study
            Group
  TITLE     Newly discovered breast cancer susceptibility loci on 3p24 and
            17q23.2
  JOURNAL   Nat Genet 41 (5), 585-590 (2009)
   PUBMED   19330027
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC099535.2, AC093555.2 and AC098931.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.4208085.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1019
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.1"
     Protein         1..1019
                     /product="serine/threonine-protein kinase Nek10 isoform
                     11"
                     /EC_number="2.7.11.1"
                     /note="serine/threonine-protein kinase Nek10; nimA-related
                     protein kinase 10; never in mitosis A-related kinase 10;
                     NIMA (never in mitosis gene a)- related kinase 10"
                     /calculated_mol_wt=115903
     Region          489..689
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(496..499,502,504,517,519,559,575..578,626,630..631,
                     633,643..644)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     CDS             1..1019
                     /gene="NEK10"
                     /gene_synonym="CILD44"
                     /coded_by="NM_001394969.1:197..3256"
                     /note="isoform 11 is encoded by transcript variant 11"
                     /db_xref="GeneID:152110"
                     /db_xref="HGNC:HGNC:18592"
                     /db_xref="MIM:618726"
ORIGIN      
        1 mpdqdkkvkt tekstdkqqe itirdysdlk rlrcllnvqs skqqlpainf dsaqnsmtks
       61 epairagghr argqwheste avelenfsin yknernfskh pqrklfqeif talvknrlis
      121 rewvnrapsi hflrvliclr llmrdpcyqe ilhslggien laqymeivan eylgygeeqh
      181 tvdklvnmty ifqklaavkd qrewvttsga hktlvnllga rdtnvllgsl lalaslaerl
      241 taellrllca epqvkeqvkl yegipvllsl lhsdhlkllw sivwilvqvc edpetsveir
      301 iwggikqllh ilqgdrnfvs dhssigslss anaagriqql hlsedlspre iqentfslqa
      361 accaaltelv lndtnahqvv qengvytiak lilpnkqkna aksnllqcya fralrflfsm
      421 ernrplfkrl fptdlfeifi dighyvrdis ayeelvskln llvedelkqi aeniesinqn
      481 kaplkyigny aildhlgsga fgcvykvrkh sgqnllamke vnlhnpafgk dkkdrdssvr
      541 nivseltiik eqlyhpnivr yyktflendr lyivmelieg aplgehfssl kekhhhftee
      601 rlwkifiqlc lalrylhkek rivhrdltpn nimlgdkdkv tvtdfglakq kqenskltsv
      661 vgtilyswcl tpdaearpdi vevssmisdv mmkyldnlst sqlslekkle rerrrtqryf
      721 meanrntvtc hhelavlshe tfekaslsss ssgaaslkse lsesadlppe gfqasygkde
      781 dracdeilsd dnfnlenaek dtysevddel disdnsssss ssplkestfn ilkrsfsasg
      841 gerqsqtrdf tggtgsrprp asagiavsqr kvrqisdpiq qiliqlhkii yitqlppalh
      901 hnlkrrvier fkkslfsqqs npcnlkseik klsqgspepi epnfftadyh llhrssggns
      961 lspndptglp tsieleegit yeqmqtviee vleesgyynf tsnryhsypw gtknhptkr
//
LOCUS       NP_001353837             250 aa            linear   PRI 20-JAN-2023
DEFINITION  ciliary-associated calcium-binding coiled-coil protein 1 isoform 4
            [Homo sapiens].
ACCESSION   NP_001353837 XP_005269656
VERSION     NP_001353837.1
DBSOURCE    REFSEQ: accession NM_001366908.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 250)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 250)
  AUTHORS   Ngoc PCT, Tan SH, Tan TK, Chan MM, Li Z, Yeoh AEJ, Tenen DG and
            Sanda T.
  TITLE     Identification of novel lncRNAs regulated by the TAL1 complex in
            T-cell acute lymphoblastic leukemia
  JOURNAL   Leukemia 32 (10), 2138-2151 (2018)
   PUBMED   29654272
REFERENCE   3  (residues 1 to 250)
  AUTHORS   Kawashima A, Kigoshi T, Katoh Y, Ishikawa Y, Shawki HH, Inoue N,
            Tamba M, Matsuda M and Okamura N.
  TITLE     CABCOCO1, a novel coiled-coil protein With calcium-binding
            activity, is localized in the sperm flagellum
  JOURNAL   Mol Reprod Dev 83 (10), 912-926 (2016)
   PUBMED   26990073
REFERENCE   4  (residues 1 to 250)
  AUTHORS   Niu N, Schaid DJ, Abo RP, Kalari K, Fridley BL, Feng Q, Jenkins G,
            Batzler A, Brisbin AG, Cunningham JM, Li L, Sun Z, Yang P and Wang
            L.
  TITLE     Genetic association with overall survival of taxane-treated lung
            cancer patients - a genome-wide association study in human
            lymphoblastoid cell lines followed by a clinical association study
  JOURNAL   BMC Cancer 12, 422 (2012)
   PUBMED   23006423
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 250)
  AUTHORS   Wain LV, Verwoert GC, O'Reilly PF, Shi G, Johnson T, Johnson AD,
            Bochud M, Rice KM, Henneman P, Smith AV, Ehret GB, Amin N, Larson
            MG, Mooser V, Hadley D, Dorr M, Bis JC, Aspelund T, Esko T,
            Janssens AC, Zhao JH, Heath S, Laan M, Fu J, Pistis G, Luan J,
            Arora P, Lucas G, Pirastu N, Pichler I, Jackson AU, Webster RJ,
            Zhang F, Peden JF, Schmidt H, Tanaka T, Campbell H, Igl W,
            Milaneschi Y, Hottenga JJ, Vitart V, Chasman DI, Trompet S,
            Bragg-Gresham JL, Alizadeh BZ, Chambers JC, Guo X, Lehtimaki T,
            Kuhnel B, Lopez LM, Polasek O, Boban M, Nelson CP, Morrison AC,
            Pihur V, Ganesh SK, Hofman A, Kundu S, Mattace-Raso FU, Rivadeneira
            F, Sijbrands EJ, Uitterlinden AG, Hwang SJ, Vasan RS, Wang TJ,
            Bergmann S, Vollenweider P, Waeber G, Laitinen J, Pouta A, Zitting
            P, McArdle WL, Kroemer HK, Volker U, Volzke H, Glazer NL, Taylor
            KD, Harris TB, Alavere H, Haller T, Keis A, Tammesoo ML, Aulchenko
            Y, Barroso I, Khaw KT, Galan P, Hercberg S, Lathrop M, Eyheramendy
            S, Org E, Sober S, Lu X, Nolte IM, Penninx BW, Corre T, Masciullo
            C, Sala C, Groop L, Voight BF, Melander O, O'Donnell CJ, Salomaa V,
            d'Adamo AP, Fabretto A, Faletra F, Ulivi S, Del Greco F, Facheris
            M, Collins FS, Bergman RN, Beilby JP, Hung J, Musk AW, Mangino M,
            Shin SY, Soranzo N, Watkins H, Goel A, Hamsten A, Gider P,
            Loitfelder M, Zeginigg M, Hernandez D, Najjar SS, Navarro P, Wild
            SH, Corsi AM, Singleton A, de Geus EJ, Willemsen G, Parker AN, Rose
            LM, Buckley B, Stott D, Orru M, Uda M, van der Klauw MM, Zhang W,
            Li X, Scott J, Chen YD, Burke GL, Kahonen M, Viikari J, Doring A,
            Meitinger T, Davies G, Starr JM, Emilsson V, Plump A, Lindeman JH,
            Hoen PA, Konig IR, Felix JF, Clarke R, Hopewell JC, Ongen H,
            Breteler M, Debette S, Destefano AL, Fornage M, Mitchell GF, Smith
            NL, Holm H, Stefansson K, Thorleifsson G, Thorsteinsdottir U,
            Samani NJ, Preuss M, Rudan I, Hayward C, Deary IJ, Wichmann HE,
            Raitakari OT, Palmas W, Kooner JS, Stolk RP, Jukema JW, Wright AF,
            Boomsma DI, Bandinelli S, Gyllensten UB, Wilson JF, Ferrucci L,
            Schmidt R, Farrall M, Spector TD, Palmer LJ, Tuomilehto J, Pfeufer
            A, Gasparini P, Siscovick D, Altshuler D, Loos RJ, Toniolo D,
            Snieder H, Gieger C, Meneton P, Wareham NJ, Oostra BA, Metspalu A,
            Launer L, Rettig R, Strachan DP, Beckmann JS, Witteman JC, Erdmann
            J, van Dijk KW, Boerwinkle E, Boehnke M, Ridker PM, Jarvelin MR,
            Chakravarti A, Abecasis GR, Gudnason V, Newton-Cheh C, Levy D,
            Munroe PB, Psaty BM, Caulfield MJ, Rao DC, Tobin MD, Elliott P and
            van Duijn CM.
  CONSRTM   LifeLines Cohort Study; EchoGen consortium; AortaGen Consortium;
            CHARGE Consortium Heart Failure Working Group; KidneyGen
            consortium; CKDGen consortium; Cardiogenics consortium; CardioGram
  TITLE     Genome-wide association study identifies six new loci influencing
            pulse pressure and mean arterial pressure
  JOURNAL   Nat Genet 43 (10), 1005-1011 (2011)
   PUBMED   21909110
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 250)
  AUTHORS   Ho JE, Levy D, Rose L, Johnson AD, Ridker PM and Chasman DI.
  TITLE     Discovery and replication of novel blood pressure genetic loci in
            the Women's Genome Health Study
  JOURNAL   J Hypertens 29 (1), 62-69 (2011)
   PUBMED   21045733
  REMARK    GeneRIF: Observational study and meta-analysis of gene-disease
            association. (HuGE Navigator)
REFERENCE   7  (residues 1 to 250)
  AUTHORS   Liu C, Li H, Qi Q, Lu L, Gan W, Loos RJ and Lin X.
  TITLE     Common variants in or near FGF5, CYP17A1 and MTHFR genes are
            associated with blood pressure and hypertension in Chinese Hans
  JOURNAL   J Hypertens 29 (1), 70-75 (2011)
   PUBMED   20852445
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   8  (residues 1 to 250)
  AUTHORS   Niu W, Zhang Y, Ji K, Gu M, Gao P and Zhu D.
  TITLE     Confirmation of top polymorphisms in hypertension genome wide
            association study among Han Chinese
  JOURNAL   Clin Chim Acta 411 (19-20), 1491-1495 (2010)
   PUBMED   20542020
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 250)
  AUTHORS   Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L,
            Najjar SS, Zhao JH, Heath SC, Eyheramendy S, Papadakis K, Voight
            BF, Scott LJ, Zhang F, Farrall M, Tanaka T, Wallace C, Chambers JC,
            Khaw KT, Nilsson P, van der Harst P, Polidoro S, Grobbee DE,
            Onland-Moret NC, Bots ML, Wain LV, Elliott KS, Teumer A, Luan J,
            Lucas G, Kuusisto J, Burton PR, Hadley D, McArdle WL, Brown M,
            Dominiczak A, Newhouse SJ, Samani NJ, Webster J, Zeggini E,
            Beckmann JS, Bergmann S, Lim N, Song K, Vollenweider P, Waeber G,
            Waterworth DM, Yuan X, Groop L, Orho-Melander M, Allione A, Di
            Gregorio A, Guarrera S, Panico S, Ricceri F, Romanazzi V, Sacerdote
            C, Vineis P, Barroso I, Sandhu MS, Luben RN, Crawford GJ,
            Jousilahti P, Perola M, Boehnke M, Bonnycastle LL, Collins FS,
            Jackson AU, Mohlke KL, Stringham HM, Valle TT, Willer CJ, Bergman
            RN, Morken MA, Doring A, Gieger C, Illig T, Meitinger T, Org E,
            Pfeufer A, Wichmann HE, Kathiresan S, Marrugat J, O'Donnell CJ,
            Schwartz SM, Siscovick DS, Subirana I, Freimer NB, Hartikainen AL,
            McCarthy MI, O'Reilly PF, Peltonen L, Pouta A, de Jong PE, Snieder
            H, van Gilst WH, Clarke R, Goel A, Hamsten A, Peden JF, Seedorf U,
            Syvanen AC, Tognoni G, Lakatta EG, Sanna S, Scheet P, Schlessinger
            D, Scuteri A, Dorr M, Ernst F, Felix SB, Homuth G, Lorbeer R,
            Reffelmann T, Rettig R, Volker U, Galan P, Gut IG, Hercberg S,
            Lathrop GM, Zelenika D, Deloukas P, Soranzo N, Williams FM, Zhai G,
            Salomaa V, Laakso M, Elosua R, Forouhi NG, Volzke H, Uiterwaal CS,
            van der Schouw YT, Numans ME, Matullo G, Navis G, Berglund G,
            Bingham SA, Kooner JS, Connell JM, Bandinelli S, Ferrucci L,
            Watkins H, Spector TD, Tuomilehto J, Altshuler D, Strachan DP, Laan
            M, Meneton P, Wareham NJ, Uda M, Jarvelin MR, Mooser V, Melander O,
            Loos RJ, Elliott P, Abecasis GR, Caulfield M and Munroe PB.
  CONSRTM   Wellcome Trust Case Control Consortium
  TITLE     Genome-wide association study identifies eight loci associated with
            blood pressure
  JOURNAL   Nat Genet 41 (6), 666-676 (2009)
   PUBMED   19430483
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL451049.11 and AC022398.7.
            On Oct 25, 2018 this sequence version replaced XP_005269656.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.245487.1,
                                           SRR14372080.3261614.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..250
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.2"
     Protein         1..250
                     /product="ciliary-associated calcium-binding coiled-coil
                     protein 1 isoform 4"
                     /note="uncharacterized protein C10orf107;
                     ciliary-associated calcium-binding coiled-coil protein 1;
                     ARID5B-inducing enhancer associated long noncoding RNA"
                     /calculated_mol_wt=28673
     Region          35..134
                     /region_name="CLAMP"
                     /note="Flagellar C1a complex subunit C1a-32; pfam14769"
                     /db_xref="CDD:434195"
     CDS             1..250
                     /gene="CABCOCO1"
                     /gene_synonym="ARIEL; C10orf107"
                     /coded_by="NM_001366908.2:316..1068"
                     /note="isoform 4 is encoded by transcript variant 5"
                     /db_xref="GeneID:219621"
                     /db_xref="HGNC:HGNC:28678"
ORIGIN      
        1 medidgvqek lriflnfknl etclkdaill dyyvsgflwa rgmdfsiiqy skfmtllams
       61 lqnlktlhms leesikwlge vmaeigpths qksedwnifd vkqanaiidy lkislfqhyk
      121 lyefmfysar eeivigteqv ievvksacgp fpnpleegis fdiystfiep ptildtemkr
      181 ldqeqgpees qpetdtsdmd plvgftiedv ksvldqvtdd iligiqtein eklqiqeeaf
      241 narieklkka
//
LOCUS       NP_114124                252 aa            linear   PRI 22-JAN-2023
DEFINITION  Krueppel-like factor 16 [Homo sapiens].
ACCESSION   NP_114124
VERSION     NP_114124.1
DBSOURCE    REFSEQ: accession NM_031918.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 252)
  AUTHORS   Yang Z, Wang YX, Wen JK, Gao HT, Han ZW, Qi JC, Gu JF, Zhao CM,
            Zhang H, Shi B, Wang DD, Wang XL and Qu CB.
  TITLE     SF3B4 promotes Twist1 expression and clear cell renal cell
            carcinoma progression by facilitating the export of KLF 16 mRNA
            from the nucleus to the cytoplasm
  JOURNAL   Cell Death Dis 14 (1), 26 (2023)
   PUBMED   36639679
  REMARK    GeneRIF: SF3B4 promotes Twist1 expression and clear cell renal cell
            carcinoma progression by facilitating the export of KLF 16 mRNA
            from the nucleus to the cytoplasm.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 252)
  AUTHORS   Li L, Zhang X, Li Y, Xiao B, Pei S, Jiang H and Zhang X.
  TITLE     Transcription factor KLF16 activates MAGT1 to regulate the
            tumorigenesis and progression of breast cancer
  JOURNAL   Int J Mol Med 50 (3) (2022)
   PUBMED   35796007
  REMARK    GeneRIF: Transcription factor KLF16 activates MAGT1 to regulate the
            tumorigenesis and progression of breast cancer.
REFERENCE   3  (residues 1 to 252)
  AUTHORS   Yang F, Chen Y, Luo L, Nong S and Li T.
  TITLE     circFOXO3 Induced by KLF16 Modulates Clear Cell Renal Cell
            Carcinoma Growth and Natural Killer Cell Cytotoxic Activity through
            Sponging miR-29a-3p and miR-122-5p
  JOURNAL   Dis Markers 2022, 6062236 (2022)
   PUBMED   36072902
  REMARK    GeneRIF: circFOXO3 Induced by KLF16 Modulates Clear Cell Renal Cell
            Carcinoma Growth and Natural Killer Cell Cytotoxic Activity through
            Sponging miR-29a-3p and miR-122-5p.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 252)
  AUTHORS   Ma XD, Xu SD, Hao SH, Han K, Chen JW, Ling H, Chen RX, Jin XH, Cao
            JH, Lin JL, Ou QJ, Fang YJ, Pan ZZ, Xie D and Wang FW.
  TITLE     KLF16 enhances stress tolerance of colorectal carcinomas by
            modulating nucleolar homeostasis and translational reprogramming
  JOURNAL   Mol Ther 30 (8), 2828-2843 (2022)
   PUBMED   35524408
  REMARK    GeneRIF: KLF16 enhances stress tolerance of colorectal carcinomas
            by modulating nucleolar homeostasis and translational
            reprogramming.
REFERENCE   5  (residues 1 to 252)
  AUTHORS   Yang L, Shi YL, Ma Y, Ren WW, Pang GM and Liu J.
  TITLE     Silencing KLF16 inhibits oral squamous cell carcinoma cell
            proliferation by arresting the cell cycle and inducing apoptosis
  JOURNAL   APMIS 130 (1), 43-52 (2022)
   PUBMED   34779529
  REMARK    GeneRIF: Silencing KLF16 inhibits oral squamous cell carcinoma cell
            proliferation by arresting the cell cycle and inducing apoptosis.
REFERENCE   6  (residues 1 to 252)
  AUTHORS   Parker-Katiraee L, Carson AR, Yamada T, Arnaud P, Feil R, Abu-Amero
            SN, Moore GE, Kaneda M, Perry GH, Stone AC, Lee C, Meguro-Horike M,
            Sasaki H, Kobayashi K, Nakabayashi K and Scherer SW.
  TITLE     Identification of the imprinted KLF14 transcription factor
            undergoing human-specific accelerated evolution
  JOURNAL   PLoS Genet 3 (5), e65 (2007)
   PUBMED   17480121
REFERENCE   7  (residues 1 to 252)
  AUTHORS   Kanazawa A, Kawamura Y, Sekine A, Iida A, Tsunoda T, Kashiwagi A,
            Tanaka Y, Babazono T, Matsuda M, Kawai K, Iiizumi T, Fujioka T,
            Imanishi M, Kaku K, Iwamoto Y, Kawamori R, Kikkawa R, Nakamura Y
            and Maeda S.
  TITLE     Single nucleotide polymorphisms in the gene encoding Kruppel-like
            factor 7 are associated with type 2 diabetes
  JOURNAL   Diabetologia 48 (7), 1315-1322 (2005)
   PUBMED   15937668
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 252)
  AUTHORS   Kaczynski JA, Conley AA, Fernandez Zapico M, Delgado SM, Zhang JS
            and Urrutia R.
  TITLE     Functional analysis of basic transcription element (BTE)-binding
            protein (BTEB) 3 and BTEB4, a novel Sp1-like protein, reveals a
            subfamily of transcriptional repressors for the BTE site of the
            cytochrome P4501A1 gene promoter
  JOURNAL   Biochem J 366 (Pt 3), 873-882 (2002)
   PUBMED   12036432
  REMARK    GeneRIF: protein analysis of BTEB3 and BTEB4 and their binding to
            CYP1A1
REFERENCE   9  (residues 1 to 252)
  AUTHORS   Zhang JS, Moncrieffe MC, Kaczynski J, Ellenrieder V, Prendergast FG
            and Urrutia R.
  TITLE     A conserved alpha-helical motif mediates the interaction of
            Sp1-like transcriptional repressors with the corepressor mSin3A
  JOURNAL   Mol Cell Biol 21 (15), 5041-5049 (2001)
   PUBMED   11438660
REFERENCE   10 (residues 1 to 252)
  AUTHORS   Hwang CK, D'Souza UM, Eisch AJ, Yajima S, Lammers CH, Yang Y, Lee
            SH, Kim YM, Nestler EJ and Mouradian MM.
  TITLE     Dopamine receptor regulating factor, DRRF: a zinc finger
            transcription factor
  JOURNAL   Proc Natl Acad Sci U S A 98 (13), 7558-7563 (2001)
   PUBMED   11390978
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012615.4, BE243730.1, AF327440.1 and BQ447922.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.312212.1, CV809534.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000250916.6/ ENSP00000250916.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..252
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..252
                     /product="Krueppel-like factor 16"
                     /note="basic transcription element binding protein 4;
                     BTE-binding protein 4; dopamine receptor regulating
                     factor; transcription factor BTEB4; transcription factor
                     NSLP2; novel Sp1-like zinc finger transcription factor 2;
                     unknown transcript; Kruppel like factor 16"
                     /calculated_mol_wt=25300
     Region          2..>88
                     /region_name="KLF16_N"
                     /note="N-terminal domain of Kruppel-like factor 16;
                     cd21573"
                     /db_xref="CDD:409237"
     Region          25..74
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXK1.1)"
     Region          90..128
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXK1.1)"
     Site            99
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BXK1.1)"
     Region          125..>189
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          132..151
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(136,138,140,142..143,146..147,150,166,168,172..173,
                     176..177,180,194,196,198,200..201,204..205,208)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Site            152
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BXK1.1)"
     Region          159..181
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          187..209
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          189..209
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          204..252
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXK1.1)"
     CDS             1..252
                     /gene="KLF16"
                     /gene_synonym="BTEB4; DRRF; NSLP2"
                     /coded_by="NM_031918.4:83..841"
                     /db_xref="CCDS:CCDS12075.1"
                     /db_xref="GeneID:83855"
                     /db_xref="HGNC:HGNC:16857"
                     /db_xref="MIM:606139"
ORIGIN      
        1 msaavacvdy faadvlmais sgavvhrgrp gpegagpaag ldvraarrea aspgtpgppp
       61 pppaasgpgp gaaaaphlla asiladlrgg pgaapggasp assssaassp ssgrapgaap
      121 saaakshrcp fpdcakayyk sshlkshlrt htgerpfacd wqgcdkkfar sdelarhhrt
      181 htgekrfscp lcskrftrsd hlakharrhp gfhpdllrrp garstspsds lpcslagspa
      241 pspapspapa gl
//
LOCUS       NP_001296356             208 aa            linear   PRI 24-JAN-2023
DEFINITION  protein FAM205C isoform b [Homo sapiens].
ACCESSION   NP_001296356
VERSION     NP_001296356.1
DBSOURCE    REFSEQ: accession NM_001309427.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 208)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB042441.1, AL355377.25 and AI125404.1.
            
            Transcript Variant: This variant (2) uses two alternate in-frame
            splice sites in the 3' coding region, compared to variant 1,
            resulting in an isoform (b) that is shorter than isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DB042441.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000340783.11/ ENSP00000489571.1
            RefSeq Select criteria :: based on computational evidence
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..208
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     Protein         1..208
                     /product="protein FAM205C isoform b"
                     /note="transmembrane protein C9orf144B pseudogene;
                     putative family with sequence similarity 205, member C
                     protein; family with sequence similarity 205, member C,
                     pseudogene; protein FAM205CP; FAM205C pseudogene; family
                     with sequence similarity 205 member C"
                     /calculated_mol_wt=23630
     Region          52..>118
                     /region_name="DUF4599"
                     /note="Domain of unknown function (DUF4599); pfam15371"
                     /db_xref="CDD:434672"
     CDS             1..208
                     /gene="SPATA31F3"
                     /gene_synonym="FAM205C; FAM205CP"
                     /coded_by="NM_001309427.2:43..669"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS83359.1"
                     /db_xref="GeneID:100129969"
                     /db_xref="HGNC:HGNC:42673"
ORIGIN      
        1 mlsptfvlwd vgyplytygs iciialiiwq vkkscqklsl vpnrsccrch rrvqqksgdr
       61 tsrarrtsqe eaeklwkllf lmksqgwlpq egsvrrilca dpccqicnvm aleikqllaa
      121 pevgldnkmk lflhwinpem kdrrheesil lskaetvtqd rtkniekspt vtkdhvwgat
      181 tqkttedpea qppsteeegl ifcdapsa
//
LOCUS       NP_001300874             112 aa            linear   PRI 14-FEB-2023
DEFINITION  transforming protein RhoA isoform 4 [Homo sapiens].
ACCESSION   NP_001300874
VERSION     NP_001300874.1
DBSOURCE    REFSEQ: accession NM_001313945.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 112)
  AUTHORS   Chiba Y, Adachi Y, Ando Y, Fujii S, Suto W and Sakai H.
  TITLE     A lncRNA MALAT1 is a positive regulator of RhoA protein expression
            in bronchial smooth muscle cells
  JOURNAL   Life Sci 313, 121289 (2023)
   PUBMED   36529281
  REMARK    GeneRIF: A lncRNA MALAT1 is a positive regulator of RhoA protein
            expression in bronchial smooth muscle cells.
REFERENCE   2  (residues 1 to 112)
  AUTHORS   Suzuki S, Ando F, Kitagawa S, Hara Y, Fujiki T, Mandai S, Susa K,
            Mori T, Sohara E, Rai T and Uchida S.
  TITLE     ZNF185 prevents stress fiber formation through the inhibition of
            RhoA in endothelial cells
  JOURNAL   Commun Biol 6 (1), 29 (2023)
   PUBMED   36631535
  REMARK    GeneRIF: ZNF185 prevents stress fiber formation through the
            inhibition of RhoA in endothelial cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 112)
  AUTHORS   Nakamura S, Kitazawa M, Miyagawa Y, Koyama M, Miyazaki S, Hondo N,
            Muranaka F, Tokumaru S, Yamamoto Y, Ehara T, Matsumura T, Takeoka M
            and Soejima Y.
  TITLE     RhoA G17E/Vav1 Signaling Induces Cancer Invasion via Matrix
            Metalloproteinase-9 in Gastric Cancer
  JOURNAL   Technol Cancer Res Treat 22, 15330338221146024 (2023)
   PUBMED   36617975
  REMARK    GeneRIF: RhoA G17E/Vav1 Signaling Induces Cancer Invasion via
            Matrix Metalloproteinase-9 in Gastric Cancer.
REFERENCE   4  (residues 1 to 112)
  AUTHORS   Husser MC, Ozugergin I, Resta T, Martin VJJ and Piekny AJ.
  TITLE     Cytokinetic diversity in mammalian cells is revealed by the
            characterization of endogenous anillin, Ect2 and RhoA
  JOURNAL   Open Biol 12 (11), 220247 (2022)
   PUBMED   36416720
  REMARK    GeneRIF: Cytokinetic diversity in mammalian cells is revealed by
            the characterization of endogenous anillin, Ect2 and RhoA.
REFERENCE   5  (residues 1 to 112)
  AUTHORS   Que F, Zhang L, Wang T, Xu M, Li W and Zang S.
  TITLE     RHOA G17V induces T follicular helper cell specification and
            involves angioimmunoblastic T-cell lymphoma via upregulating the
            expression of PON2 through an NF-kappaB-dependent mechanism
  JOURNAL   Oncoimmunology 11 (1), 2134536 (2022)
   PUBMED   36249275
  REMARK    GeneRIF: RHOA G17V induces T follicular helper cell specification
            and involves angioimmunoblastic T-cell lymphoma via upregulating
            the expression of PON2 through an NF-kappaB-dependent mechanism.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 112)
  AUTHORS   Fagan,K.P., Oliveira,L. and Pittler,S.J.
  TITLE     Sequence of rho small GTP-binding protein cDNAs from human retina
            and identification of novel 5' end cloning artifacts
  JOURNAL   Exp Eye Res 59 (2), 235-237 (1994)
   PUBMED   7835413
REFERENCE   7  (residues 1 to 112)
  AUTHORS   Nemoto Y, Namba T, Teru-uchi T, Ushikubi F, Morii N and Narumiya S.
  TITLE     A rho gene product in human blood platelets. I. Identification of
            the platelet substrate for botulinum C3 ADP-ribosyltransferase as
            rhoA protein
  JOURNAL   J Biol Chem 267 (29), 20916-20920 (1992)
   PUBMED   1328215
REFERENCE   8  (residues 1 to 112)
  AUTHORS   Moscow JA, Morrow CS, He R, Mullenbach GT and Cowan KH.
  TITLE     Structure and function of the 5'-flanking sequence of the human
            cytosolic selenium-dependent glutathione peroxidase gene (hgpx1)
  JOURNAL   J Biol Chem 267 (9), 5949-5958 (1992)
   PUBMED   1556108
REFERENCE   9  (residues 1 to 112)
  AUTHORS   Cannizzaro LA, Madaule P, Hecht F, Axel R, Croce CM and Huebner K.
  TITLE     Chromosome localization of human ARH genes, a ras-related gene
            family
  JOURNAL   Genomics 6 (2), 197-203 (1990)
   PUBMED   2407642
REFERENCE   10 (residues 1 to 112)
  AUTHORS   Yeramian,P., Chardin,P., Madaule,P. and Tavitian,A.
  TITLE     Nucleotide sequence of human rho cDNA clone 12
  JOURNAL   Nucleic Acids Res 15 (4), 1869 (1987)
   PUBMED   3822842
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK307220.1, AC121247.2,
            EL952052.1 and AI269293.1.
            
            Summary: This gene encodes a member of the Rho family of small
            GTPases, which cycle between inactive GDP-bound and active
            GTP-bound states and function as molecular switches in signal
            transduction cascades. Rho proteins promote reorganization of the
            actin cytoskeleton and regulate cell shape, attachment, and
            motility. Overexpression of this gene is associated with tumor cell
            proliferation and metastasis. Multiple alternatively spliced
            variants have been identified. [provided by RefSeq, Sep 2015].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 5' region and uses a downstream start codon compared to
            variant 1. The resulting isoform (4) has a shorter N-terminus
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK307220.1, DC357784.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..112
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..112
                     /product="transforming protein RhoA isoform 4"
                     /EC_number="3.6.5.2"
                     /note="transforming protein RhoA; oncogene RHO H12;
                     Aplysia ras-related homolog 12; small GTP binding protein
                     RhoA; epididymis secretory sperm binding protein"
                     /calculated_mol_wt=12589
     Region          <1..98
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            36..39
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206648"
     Site            79..81
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206648"
     CDS             1..112
                     /gene="RHOA"
                     /gene_synonym="ARH12; ARHA; EDFAOB; RHO12; RHOH12"
                     /coded_by="NM_001313945.2:280..618"
                     /note="isoform 4 is encoded by transcript variant 5"
                     /db_xref="GeneID:387"
                     /db_xref="HGNC:HGNC:667"
                     /db_xref="MIM:165390"
ORIGIN      
        1 mcfsidspds lenipekwtp evkhfcpnvp iilvgnkkdl rndehtrrel akmkqepvkp
       61 eegrdmanri gafgymecsa ktkdgvrevf ematraalqa rrgkkksgcl vl
//
LOCUS       NP_620116                192 aa            linear   PRI 19-FEB-2023
DEFINITION  apoptosis regulator BAX isoform alpha [Homo sapiens].
ACCESSION   NP_620116
VERSION     NP_620116.1
DBSOURCE    REFSEQ: accession NM_138761.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 192)
  AUTHORS   Moujalled DM, Brown FC, Chua CC, Dengler MA, Pomilio G, Anstee NS,
            Litalien V, Thompson E, Morley T, MacRaild S, Tiong IS, Morris R,
            Dun K, Zordan A, Shah J, Banquet S, Halilovic E, Morris E, Herold
            MJ, Lessene G, Adams JM, Huang DCS, Roberts AW, Blombery P and Wei
            AH.
  TITLE     Acquired mutations in BAX confer resistance to BH3-mimetic therapy
            in acute myeloid leukemia
  JOURNAL   Blood 141 (6), 634-644 (2023)
   PUBMED   36219880
  REMARK    GeneRIF: Acquired mutations in BAX confer resistance to BH3-mimetic
            therapy in acute myeloid leukemia.
REFERENCE   2  (residues 1 to 192)
  AUTHORS   Yao Q, Zhang H, Standish C, Grube J, Manas A and Xiang J.
  TITLE     Expression profile of the proapoptotic protein Bax in the human
            brain
  JOURNAL   Histochem Cell Biol 159 (2), 209-220 (2023)
   PUBMED   35951115
  REMARK    GeneRIF: Expression profile of the proapoptotic protein Bax in the
            human brain.
REFERENCE   3  (residues 1 to 192)
  AUTHORS   Zhu X, Chen B and Xu H.
  TITLE     By modulating miR-525-5p/Bax axis, LINC00659 promotes vascular
            endothelial cell apoptosis
  JOURNAL   Immun Inflamm Dis 11 (1), e764 (2023)
   PUBMED   36705418
  REMARK    GeneRIF: By modulating miR-525-5p/Bax axis, LINC00659 promotes
            vascular endothelial cell apoptosis.
REFERENCE   4  (residues 1 to 192)
  AUTHORS   da Silva Lawisch GK, Biolchi V, Kaufmann G, Nicolai G, Capitaneo E,
            Rosembach TR, Zang J, Brum IS and Chies JAB.
  TITLE     The role of FASL, BCL-2 and BAX polymorphisms in brazilian patients
            with prostate cancer and benign prostatic hyperplasia
  JOURNAL   Mol Biol Rep 49 (10), 9445-9451 (2022)
   PUBMED   35988104
  REMARK    GeneRIF: The role of FASL, BCL-2 and BAX polymorphisms in brazilian
            patients with prostate cancer and benign prostatic hyperplasia.
REFERENCE   5  (residues 1 to 192)
  AUTHORS   Al-Zubaidy HFS, Majeed SR and Al-Koofee DAF.
  TITLE     Evaluation of Bax and BCL 2 Genes Polymorphisms in Iraqi Women with
            Breast Cancer
  JOURNAL   Arch Razi Inst 77 (2), 799-808 (2022)
   PUBMED   36284943
  REMARK    GeneRIF: Evaluation of Bax and BCL 2 Genes Polymorphisms in Iraqi
            Women with Breast Cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 192)
  AUTHORS   Salomons GS, Buitenhuis CK, Martinez Munoz C, Verwijs-Jassen M,
            Behrendt H, Zsiros J and Smets LA.
  TITLE     Mutational analysis of Bax and Bcl-2 in childhood acute
            lymphoblastic leukaemia
  JOURNAL   Int J Cancer 79 (3), 273-277 (1998)
   PUBMED   9645350
REFERENCE   7  (residues 1 to 192)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   8  (residues 1 to 192)
  AUTHORS   Apte SS, Mattei MG and Olsen BR.
  TITLE     Mapping of the human BAX gene to chromosome 19q13.3-q13.4 and
            isolation of a novel alternatively spliced transcript, BAX delta
  JOURNAL   Genomics 26 (3), 592-594 (1995)
   PUBMED   7607685
REFERENCE   9  (residues 1 to 192)
  AUTHORS   Miyashita T and Reed JC.
  TITLE     Tumor suppressor p53 is a direct transcriptional activator of the
            human bax gene
  JOURNAL   Cell 80 (2), 293-299 (1995)
   PUBMED   7834749
REFERENCE   10 (residues 1 to 192)
  AUTHORS   Krieger NS, Sessler NE and Bushinsky DA.
  TITLE     Acidosis inhibits osteoblastic and stimulates osteoclastic activity
            in vitro
  JOURNAL   Am J Physiol 262 (3 Pt 2), F442-F448 (1992)
   PUBMED   1558161
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BE396495.1, BC014175.2 and
            AI565203.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene belongs to the BCL2
            protein family. BCL2 family members form hetero- or homodimers and
            act as anti- or pro-apoptotic regulators that are involved in a
            wide variety of cellular activities. This protein forms a
            heterodimer with BCL2, and functions as an apoptotic activator. The
            association and the ratio of BAX to BCL2 also determines survival
            or death of a cell following an apoptotic stimulus. This protein is
            reported to interact with, and increase the opening of, the
            mitochondrial voltage-dependent anion channel (VDAC), which leads
            to the loss in membrane potential and the release of cytochrome c.
            The expression of this gene is regulated by the tumor suppressor
            P53 and has been shown to be involved in P53-mediated apoptosis.
            Multiple alternatively spliced transcript variants, which encode
            different isoforms, have been reported for this gene. [provided by
            RefSeq, Dec 2019].
            
            Transcript Variant: This variant (alpha) has an alternate splice
            site in the 3' coding region which causes a frame-shift, compared
            to variant 1. The resulting isoform (alpha, also known as psi) has
            a shorter and different C terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC014175.2, SRR1163657.238306.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000345358.12/ ENSP00000263262.9
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..192
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..192
                     /product="apoptosis regulator BAX isoform alpha"
                     /note="apoptosis regulator BAX; bcl2-L-4; bcl-2-like
                     protein 4; BCL2-associated X protein omega; Baxdelta2G9;
                     BCL2 associated X protein; Baxdelta2omega;
                     Baxdelta2G9omega"
                     /calculated_mol_wt=21053
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (Q07812.1)"
     Region          5..192
                     /region_name="bcl-2"
                     /note="apoptosis regulator; TIGR00865"
                     /db_xref="CDD:273308"
     Region          59..73
                     /region_name="BH3. /evidence=ECO:0000269|PubMed:8521816"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07812.1)"
     Region          98..118
                     /region_name="BH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07812.1)"
     Region          150..165
                     /region_name="BH2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07812.1)"
     Site            172..192
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07812.1)"
     CDS             1..192
                     /gene="BAX"
                     /gene_synonym="BCL2L4"
                     /coded_by="NM_138761.4:55..633"
                     /note="isoform alpha is encoded by transcript variant
                     alpha"
                     /db_xref="CCDS:CCDS12742.1"
                     /db_xref="GeneID:581"
                     /db_xref="HGNC:HGNC:959"
                     /db_xref="MIM:600040"
ORIGIN      
        1 mdgsgeqprg ggptsseqim ktgalllqgf iqdragrmgg eapelaldpv pqdastkkls
       61 eclkrigdel dsnmelqrmi aavdtdspre vffrvaadmf sdgnfnwgrv valfyfaskl
      121 vlkalctkvp elirtimgwt ldflrerllg wiqdqggwdg llsyfgtptw qtvtifvagv
      181 ltasltiwkk mg
//
LOCUS       NP_001304889            1028 aa            linear   PRI 11-MAR-2023
DEFINITION  5'-3' exoribonuclease 2 isoform 1 [Homo sapiens].
ACCESSION   NP_001304889 XP_011527486
VERSION     NP_001304889.1
DBSOURCE    REFSEQ: accession NM_001317960.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1028)
  AUTHORS   Pieraccioli M, Caggiano C, Mignini L, Zhong C, Babini G, Lattanzio
            R, Di Stasi S, Tian B, Sette C and Bielli P.
  TITLE     The transcriptional terminator XRN2 and the RNA-binding protein
            Sam68 link alternative polyadenylation to cell cycle progression in
            prostate cancer
  JOURNAL   Nat Struct Mol Biol 29 (11), 1101-1112 (2022)
   PUBMED   36344846
  REMARK    GeneRIF: The transcriptional terminator XRN2 and the RNA-binding
            protein Sam68 link alternative polyadenylation to cell cycle
            progression in prostate cancer.
REFERENCE   2  (residues 1 to 1028)
  AUTHORS   Dang TT, Lerner M, Saunders D, Smith N, Gulej R, Zalles M, Towner
            RA and Morales JC.
  TITLE     XRN2 Is Required for Cell Motility and Invasion in Glioblastomas
  JOURNAL   Cells 11 (9), 1481 (2022)
   PUBMED   35563787
  REMARK    GeneRIF: XRN2 Is Required for Cell Motility and Invasion in
            Glioblastomas.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1028)
  AUTHORS   Kim M, Park J, Bouhaddou M, Kim K, Rojc A, Modak M, Soucheray M,
            McGregor MJ, O'Leary P, Wolf D, Stevenson E, Foo TK, Mitchell D,
            Herrington KA, Munoz DP, Tutuncuoglu B, Chen KH, Zheng F, Kreisberg
            JF, Diolaiti ME, Gordan JD, Coppe JP, Swaney DL, Xia B, van 't Veer
            L, Ashworth A, Ideker T and Krogan NJ.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   4  (residues 1 to 1028)
  AUTHORS   Liu JC, Gao L, Li SM, Zheng JJ, Li DG, Zhi KQ and Ren WH.
  TITLE     Upregulation of XRN2 acts as an oncogene in oral squamous cell
            carcinoma and correlates with poor prognosis
  JOURNAL   Pathol Res Pract 219, 153355 (2021)
   PUBMED   33626405
  REMARK    GeneRIF: Upregulation of XRN2 acts as an oncogene in oral squamous
            cell carcinoma and correlates with poor prognosis.
REFERENCE   5  (residues 1 to 1028)
  AUTHORS   West S, Gromak N and Proudfoot NJ.
  TITLE     Human 5' --> 3' exonuclease Xrn2 promotes transcription termination
            at co-transcriptional cleavage sites
  JOURNAL   Nature 432 (7016), 522-525 (2004)
   PUBMED   15565158
  REMARK    GeneRIF: co-transcriptional cleavage acts as a precursor to
            termination by presenting a free RNA 5' end that is recognized by
            the human 5' --> 3' exonuclease Xrn2
REFERENCE   6  (residues 1 to 1028)
  AUTHORS   Lehner B and Sanderson CM.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   7  (residues 1 to 1028)
  AUTHORS   Lejeune F, Li X and Maquat LE.
  TITLE     Nonsense-mediated mRNA decay in mammalian cells involves decapping,
            deadenylating, and exonucleolytic activities
  JOURNAL   Mol Cell 12 (3), 675-687 (2003)
   PUBMED   14527413
REFERENCE   8  (residues 1 to 1028)
  AUTHORS   Scherl A, Coute Y, Deon C, Calle A, Kindbeiter K, Sanchez JC, Greco
            A, Hochstrasser D and Diaz JJ.
  TITLE     Functional proteomic analysis of human nucleolus
  JOURNAL   Mol Biol Cell 13 (11), 4100-4109 (2002)
   PUBMED   12429849
REFERENCE   9  (residues 1 to 1028)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   10 (residues 1 to 1028)
  AUTHORS   Zhang M, Yu L, Xin Y, Hu P, Fu Q, Yu C and Zhao S.
  TITLE     Cloning and mapping of the XRN2 gene to human chromosome
            20p11.1-p11.2
  JOURNAL   Genomics 59 (2), 252-254 (1999)
   PUBMED   10409438
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC403143.1, AL117332.16,
            AK302846.1 and AF152169.1.
            On Dec 17, 2015 this sequence version replaced XP_011527486.1.
            
            Summary: This gene encodes a 5'-3' exonuclease that promotes
            transcription termination at cotranscriptional cleavage sites.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302846.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1028
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.22"
     Protein         1..1028
                     /product="5'-3' exoribonuclease 2 isoform 1"
                     /EC_number="3.1.13.-"
                     /note="DHP protein; DHM1-like protein"
                     /calculated_mol_wt=116676
     Region          118..865
                     /region_name="XRN1"
                     /note="5'-3' exonuclease [Replication, recombination and
                     repair]; COG5049"
                     /db_xref="CDD:227382"
     CDS             1..1028
                     /gene="XRN2"
                     /coded_by="NM_001317960.1:42..3128"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="GeneID:22803"
                     /db_xref="HGNC:HGNC:12836"
                     /db_xref="MIM:608851"
ORIGIN      
        1 mgsaacprga lpelapccqp reqsqphtrw dagcgiqhpg geefrtlgga rayrvpnsqe
       61 grssptrffp apegpahcfv sspdrafwvs eevqrlllsn acqpkecngv kipvdaskpn
      121 pndvefdnly ldmngiihpc thpedkpapk nedemmvaif eyidrlfsiv rprrllymai
      181 dgvaprakmn qqrsrrfras kegmeaavek qrvreeilak ggflppeeik erfdsncitp
      241 gtefmdnlak clryyiadrl nndpgwknlt vilsdasapg egehkimdyi rrqraqpnhd
      301 pnthhclcga dadlimlgla thepnftiir eefkpnkpkp cglcnqfghe vkdceglpre
      361 kkgkhdelad slpcaegefi flrlnvlrey lereltmasl pftfdversi ddwvfmcffv
      421 gndflphlps leirenaidr lvniyknvvh ktggyltesg yvnlqrvqmi mlavgeveds
      481 ifkkrkdded sfrrrqkekr krmkrdqpaf tpsgiltpha lgsrnspgsq vasnprqaay
      541 emrmqnnssp sispntsfts dgspsplggi krkaedsdse pepednvrlw eagwkqryyk
      601 nkfdvdaade kfrrkvvqsy veglcwvlry yyqgcaswkw yypfhyapfa sdfegiadmp
      661 sdfekgtkpf kpleqlmgvf paasgnflpp swrklmsdpd ssiidfyped faidlngkky
      721 awqgvallpf vderrlraal eevypdltpe etrrnslggd vlfvgkhhpl hdfilelyqt
      781 gstepvevpp elchgiqgkf sldeeailpd qivcspvpml rdltqntvvs infkdpqfae
      841 dyifkavmlp garkpaavlk psdwekssng rqwkpqlgfn rdrrpvhldq aafrtlghvm
      901 prgsgtgiys naapppvtyq gnlyrpllrg qaqipklmsn mrpqdswrgp pplfqqqrfd
      961 rgvgaepllp wnrmlqtqna afqpnqyqml agpggypprr ddrggrqgyp regrkyplpp
     1021 psgrynwn
//
LOCUS       NP_001035842             495 aa            linear   PRI 12-MAR-2023
DEFINITION  centrosomal protein of 63 kDa isoform c [Homo sapiens].
ACCESSION   NP_001035842
VERSION     NP_001035842.1
DBSOURCE    REFSEQ: accession NM_001042383.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 495)
  AUTHORS   Kodani A, Knopp KA, Di Lullo E, Retallack H, Kriegstein AR, DeRisi
            JL and Reiter JF.
  TITLE     Zika virus alters centrosome organization to suppress the innate
            immune response
  JOURNAL   EMBO Rep 23 (9), e52211 (2022)
   PUBMED   35793002
REFERENCE   2  (residues 1 to 495)
  AUTHORS   Ling H, Cao CH, Han K, Lv YR, Ma XD, Cao JH, Chen JW, Li S, Lin JL,
            Fang YJ, Pan ZZ, Xie D and Wang FW.
  TITLE     CEP63 upregulates YAP1 to promote colorectal cancer progression
            through stabilizing RNA binding protein FXR1
  JOURNAL   Oncogene 41 (39), 4433-4445 (2022)
   PUBMED   35989368
  REMARK    GeneRIF: CEP63 upregulates YAP1 to promote colorectal cancer
            progression through stabilizing RNA binding protein FXR1.
REFERENCE   3  (residues 1 to 495)
  AUTHORS   Liu C, Yu F, Ma R, Zhang L, Du G, Niu D and Yin D.
  TITLE     Cep63 knockout inhibits the malignant phenotypes of papillary
            thyroid cancer cell line TPC-1
  JOURNAL   Oncol Rep 46 (3) (2021)
   PUBMED   34296302
  REMARK    GeneRIF: Cep63 knockout inhibits the malignant phenotypes of
            papillary thyroid cancer cell line TPC1.
REFERENCE   4  (residues 1 to 495)
  AUTHORS   Mahjabeen I, Maqsood Y, Abbasi R, Ahmed MW and Kayani MA.
  TITLE     Polymorphism in miRNA target sites of CEP-63 and CEP-152 ring
            complex influences expression of CEP genes and favors tumorigenesis
            in glioma
  JOURNAL   Future Oncol 17 (25), 3355-3372 (2021)
   PUBMED   34156311
  REMARK    GeneRIF: Polymorphism in miRNA target sites of CEP-63 and CEP-152
            ring complex influences expression of CEP genes and favors
            tumorigenesis in glioma.
REFERENCE   5  (residues 1 to 495)
  AUTHORS   Liu CG, Yu FQ, Ma RS, Zhang LL, Wang MQ, Feng KX, Wang T and Yin
            DT.
  TITLE     [Study on Cep63 expression and apoptosis of thyroid papillary
            carcinoma cell lines TPC-1]
  JOURNAL   Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 56 (1), 62-68 (2021)
   PUBMED   33472304
  REMARK    GeneRIF: [Study on Cep63 expression and apoptosis of thyroid
            papillary carcinoma cell lines TPC-1].
REFERENCE   6  (residues 1 to 495)
  AUTHORS   Morris JA, Kandpal G, Ma L and Austin CP.
  TITLE     DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated
            protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL:
            regulation and loss of interaction with mutation
  JOURNAL   Hum Mol Genet 12 (13), 1591-1608 (2003)
   PUBMED   12812986
REFERENCE   7  (residues 1 to 495)
  AUTHORS   Takahashi M, Yamagiwa A, Nishimura T, Mukai H and Ono Y.
  TITLE     Centrosomal proteins CG-NAP and kendrin provide microtubule
            nucleation sites by anchoring gamma-tubulin ring complex
  JOURNAL   Mol Biol Cell 13 (9), 3235-3245 (2002)
   PUBMED   12221128
REFERENCE   8  (residues 1 to 495)
  AUTHORS   Mayor T, Stierhof YD, Tanaka K, Fry AM and Nigg EA.
  TITLE     The centrosomal protein C-Nap1 is required for cell cycle-regulated
            centrosome cohesion
  JOURNAL   J Cell Biol 151 (4), 837-846 (2000)
   PUBMED   11076968
REFERENCE   9  (residues 1 to 495)
  AUTHORS   Golsteyn RM, Mundt KE, Fry AM and Nigg EA.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
REFERENCE   10 (residues 1 to 495)
  AUTHORS   Verloes,A., Drunat,S., Gressens,P. and Passemard,S.
  TITLE     Primary Autosomal Recessive Microcephalies and Seckel Syndrome
            Spectrum Disorders - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301772
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010207.18, BX499930.1,
            BC014050.2, CX751767.1, AC109912.10 and N36992.1.
            
            Summary: This gene encodes a protein with six coiled-coil domains.
            The protein is localized to the centrosome, a non-membraneous
            organelle that functions as the major microtubule-organizing center
            in animal cells. Several alternatively spliced transcript variants
            have been found, but their biological validity has not been
            determined. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.73112.1,
                                           SRR1803614.251545.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..495
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.2"
     Protein         1..495
                     /product="centrosomal protein of 63 kDa isoform c"
                     /note="centrosome protein CEP63; centrosomal protein
                     63kDa"
                     /calculated_mol_wt=57777
     Region          18..280
                     /region_name="CEP63"
                     /note="Centrosomal protein of 63 kDa; pfam17045"
                     /db_xref="CDD:435709"
     Region          <247..>495
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..495
                     /gene="CEP63"
                     /gene_synonym="SCKL6"
                     /coded_by="NM_001042383.2:355..1842"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS43154.1"
                     /db_xref="GeneID:80254"
                     /db_xref="HGNC:HGNC:25815"
                     /db_xref="MIM:614724"
ORIGIN      
        1 meallegiqn rghgggflts ceaelqelmk qidimvahkk sewegrthal etclkireqe
       61 lkslrsqldv thkevgmlhq qveehekikq emtmeykqel kklheelcil krsyeklqkk
      121 qmrefrgntk nhredrseie rltakieefr qksldwekqr liyqqqvssl eaqrkalaeq
      181 seiiqaqlvn rkqklesvel ssqseiqhls sklerandti caneleierl tmrvndlvgt
      241 smtvlqeqqq keeklresek llealqeekr elkaalqsqe nliheariqk eklqekvkat
      301 ntqhaveais lesvsatckq lsqelmekye elkrmeahnn eykaeikklk eqilqgeqsy
      361 ssalegmkme ishltqelhq rditiastkg sssdmekrlr aemqkaedka vehkeildql
      421 eslklenrhl semvmklelg lhecslpvsp lgsiatrfle eeelrshhil erldahieel
      481 kresektvrq ftalk
//
LOCUS       NP_001362212             564 aa            linear   PRI 16-MAR-2023
DEFINITION  complement factor I isoform 9 preproprotein [Homo sapiens].
ACCESSION   NP_001362212
VERSION     NP_001362212.1
DBSOURCE    REFSEQ: accession NM_001375283.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 564)
  AUTHORS   Hallam TM, Cox TE, Smith-Jackson K, Brocklebank V, Baral AJ,
            Tzoumas N, Steel DH, Wong EKS, Shuttleworth VG, Lotery AJ, Harris
            CL, Marchbank KJ and Kavanagh D.
  TITLE     A novel method for real-time analysis of the complement C3b:FH:FI
            complex reveals dominant negative CFI variants in age-related
            macular degeneration
  JOURNAL   Front Immunol 13, 1028760 (2022)
   PUBMED   36643920
  REMARK    GeneRIF: A novel method for real-time analysis of the complement
            C3b:FH:FI complex reveals dominant negative CFI variants in
            age-related macular degeneration.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 564)
  AUTHORS   Java A, Pozzi N, Schroeder MC, Hu Z, Huan T, Seddon JM and Atkinson
            J.
  TITLE     Functional analysis of rare genetic variants in complement factor I
            in advanced age-related macular degeneration
  JOURNAL   Hum Mol Genet 31 (21), 3683-3693 (2022)
   PUBMED   35531992
  REMARK    GeneRIF: Functional analysis of rare genetic variants in complement
            factor I in advanced age-related macular degeneration.
REFERENCE   3  (residues 1 to 564)
  AUTHORS   Jones AV, Curtiss D, Harris C, Southerington T, Hautalahti M,
            Wihuri P, Makela J, Kallionpaa RE, Makkonen E, Knopp T, Mannermaa
            A, Makinen E, Moilanen AM, Tezel TH and Waheed NK.
  CONSRTM   SCOPE Study group
  TITLE     An assessment of prevalence of Type 1 CFI rare variants in European
            AMD, and why lack of broader genetic data hinders development of
            new treatments and healthcare access
  JOURNAL   PLoS One 17 (9), e0272260 (2022)
   PUBMED   36067162
  REMARK    GeneRIF: An assessment of prevalence of Type 1 CFI rare variants in
            European AMD, and why lack of broader genetic data hinders
            development of new treatments and healthcare access.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 564)
  AUTHORS   de Jong S, de Breuk A, Bakker B, Katti S, Hoyng CB, Nilsson SC,
            Blom AM, van den Heuvel LP, den Hollander AI and Volokhina EB.
  TITLE     Functional Analysis of Variants in Complement Factor I Identified
            in Age-Related Macular Degeneration and Atypical Hemolytic Uremic
            Syndrome
  JOURNAL   Front Immunol 12, 789897 (2022)
   PUBMED   35069568
  REMARK    GeneRIF: Functional Analysis of Variants in Complement Factor I
            Identified in Age-Related Macular Degeneration and Atypical
            Hemolytic Uremic Syndrome.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 564)
  AUTHORS   van de Ven JP, Nilsson SC, Tan PL, Buitendijk GH, Ristau T, Mohlin
            FC, Nabuurs SB, Schoenmaker-Koller FE, Smailhodzic D, Campochiaro
            PA, Zack DJ, Duvvari MR, Bakker B, Paun CC, Boon CJ, Uitterlinden
            AG, Liakopoulos S, Klevering BJ, Fauser S, Daha MR, Katsanis N,
            Klaver CC, Blom AM, Hoyng CB and den Hollander AI.
  TITLE     A functional variant in the CFI gene confers a high risk of
            age-related macular degeneration
  JOURNAL   Nat Genet 45 (7), 813-817 (2013)
   PUBMED   23685748
  REMARK    GeneRIF: these findings demonstrate that rare, highly penetrant
            mutations in CFI contribute to the genetic burden of age-related
            macular degeneration.
REFERENCE   6  (residues 1 to 564)
  AUTHORS   Martin,B. and Smith,R.J.H.
  TITLE     C3 Glomerulopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301598
REFERENCE   7  (residues 1 to 564)
  AUTHORS   Noris,M., Bresin,E., Mele,C. and Remuzzi,G.
  TITLE     Genetic Atypical Hemolytic-Uremic Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301541
REFERENCE   8  (residues 1 to 564)
  AUTHORS   DiScipio RG.
  TITLE     Ultrastructures and interactions of complement factors H and I
  JOURNAL   J Immunol 149 (8), 2592-2599 (1992)
   PUBMED   1401896
REFERENCE   9  (residues 1 to 564)
  AUTHORS   Shiang R, Murray JC, Morton CC, Buetow KH, Wasmuth JJ, Olney AH,
            Sanger WG and Goldberger G.
  TITLE     Mapping of the human complement factor I gene to 4q25
  JOURNAL   Genomics 4 (1), 82-86 (1989)
   PUBMED   2563353
REFERENCE   10 (residues 1 to 564)
  AUTHORS   Catterall,C.F., Lyons,A., Sim,R.B., Day,A.J. and Harris,T.J.
  TITLE     Characterization of primary amino acid sequence of human complement
            control protein factor I from an analysis of cDNA clones
  JOURNAL   Biochem J 242 (3), 849-856 (1987)
   PUBMED   2954545
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC126283.3.
            
            Summary: This gene encodes a serine proteinase that is essential
            for regulating the complement cascade. The encoded preproprotein is
            cleaved to produce both heavy and light chains, which are linked by
            disulfide bonds to form a heterodimeric glycoprotein. This
            heterodimer can cleave and inactivate the complement components C4b
            and C3b, and it prevents the assembly of the C3 and C5 convertase
            enzymes. Defects in this gene cause complement factor I deficiency,
            an autosomal recessive disease associated with a susceptibility to
            pyogenic infections. Mutations in this gene have been associated
            with a predisposition to atypical hemolytic uremic syndrome, a
            disease characterized by acute renal failure, microangiopathic
            hemolytic anemia and thrombocytopenia. Primary glomerulonephritis
            with immune deposits and age-related macular degeneration are other
            conditions associated with mutations of this gene. [provided by
            RefSeq, Dec 2015].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138515.884116.1,
                                           SRR14372080.206341.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..564
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     Protein         1..564
                     /product="complement factor I isoform 9 preproprotein"
                     /EC_number="3.4.21.45"
                     /note="C3b-inactivator; Konglutinogen-activating factor;
                     complement factor I heavy chain; complement component I;
                     C3B/C4B inactivator; complement control protein factor I;
                     light chain of factor I"
                     /calculated_mol_wt=61478
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2281
     Region          43..108
                     /region_name="FIMAC"
                     /note="factor I membrane attack complex; smart00057"
                     /db_xref="CDD:214493"
     Region          114..215
                     /region_name="SR"
                     /note="Scavenger receptor Cys-rich; smart00202"
                     /db_xref="CDD:214555"
     Region          224..256
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(227,235,246..247)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(239,242,246,252..253)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            249..253
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          257..293
                     /region_name="Ldl_recept_a"
                     /note="Low-density lipoprotein receptor domain class A;
                     pfam00057"
                     /db_xref="CDD:395011"
     Site            order(264,272,283..284)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(276,279,283,289..290)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            286..290
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          321..553
                     /region_name="Tryp_SPc"
                     /note="Trypsin-like serine protease; Many of these are
                     synthesized as inactive precursor zymogens that are
                     cleaved during limited proteolysis to generate their
                     active forms. Alignment contains also inactive enzymes
                     that have substitutions of the catalytic triad...;
                     cd00190"
                     /db_xref="CDD:238113"
     Site            321
                     /site_type="active"
                     /note="cleavage site [active]"
                     /db_xref="CDD:238113"
     Site            order(361,410,506)
                     /site_type="active"
                     /db_xref="CDD:238113"
     Site            order(500,526,528)
                     /site_type="other"
                     /note="substrate binding sites [chemical binding]"
                     /db_xref="CDD:238113"
     CDS             1..564
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /coded_by="NM_001375283.1:29..1723"
                     /note="isoform 9 preproprotein is encoded by transcript
                     variant 9"
                     /db_xref="GeneID:3426"
                     /db_xref="HGNC:HGNC:5394"
                     /db_xref="MIM:217030"
ORIGIN      
        1 mkllhvfllf lcfhlrfckv tytsqedlve kkclakkyth lscdkvfcqp wqrciegtcv
       61 cklpyqcpkn gtavcatnrr sfptycqqks leclhpgtkf lnngtctaeg kfsvslkhgn
      121 tdsegivevk lvdqdktmfi cksswsmrea nvacldlgfq qgadtqrrfk lsdlsinste
      181 clhvhcrgle tslaectftk rrtmgyqdfa dvvcytqkad spmddffqcv ngkyisqmka
      241 cdgindcgdq sdelcckacq gkgfhcksgv cipsqyqcng evdcitgede vgcaerrrik
      301 sllpklscgv knrmhirrkr ivggkraqlg dlpwqvaikd asgitcggiy iggcwiltaa
      361 hclraskthr yqiwttvvdw ihpdlkrivi eyvdriifhe nynagtyqnd ialiemkkdg
      421 nkkdcelprs ipacvpwspy lfqpndtciv sgwgrekdne rvfslqwgev klisncskfy
      481 gnrfyekeme cagtydgsid ackgdsggpl vcmdannvty vwgvvswgen cgkpefpgvy
      541 tkvanyfdwi syhvgrpfis qynv
//
LOCUS       NP_001186258             169 aa            linear   PRI 18-MAR-2023
DEFINITION  fucose-1-phosphate guanylyltransferase isoform 2 [Homo sapiens].
ACCESSION   NP_001186258
VERSION     NP_001186258.3
DBSOURCE    REFSEQ: accession NM_001199329.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 169)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   2  (residues 1 to 169)
  AUTHORS   Quirk S and Seley-Radtke KL.
  TITLE     Purification, crystallization and preliminary X-ray
            characterization of the human GTP fucose pyrophosphorylase
  JOURNAL   Acta Crystallogr Sect F Struct Biol Cryst Commun 62 (Pt 4), 392-394
            (2006)
   PUBMED   16582493
  REMARK    GeneRIF: A complete native data set has been collected as a first
            step in determining the three-dimensional structure of this enzyme.
REFERENCE   3  (residues 1 to 169)
  AUTHORS   Quirk S and Seley KL.
  TITLE     Identification of catalytic amino acids in the human GTP fucose
            pyrophosphorylase active site
  JOURNAL   Biochemistry 44 (39), 13172-13178 (2005)
   PUBMED   16185085
  REMARK    GeneRIF: identified five amino acid residues that are critical for
            catalysis.
REFERENCE   4  (residues 1 to 169)
  AUTHORS   Quirk S and Seley KL.
  TITLE     Substrate discrimination by the human GTP fucose pyrophosphorylase
  JOURNAL   Biochemistry 44 (32), 10854-10863 (2005)
   PUBMED   16086588
  REMARK    GeneRIF: the nature of the purine base is the major determinant in
            substrate specificity, followed by the nature of the hexose-1-P,
            and finally by the ribose moiety. Binding is enthalpy-driven and
            does not involve proton transfer
REFERENCE   5  (residues 1 to 169)
  AUTHORS   Pastuszak I, Ketchum C, Hermanson G, Sjoberg EJ, Drake R and Elbein
            AD.
  TITLE     GDP-L-fucose pyrophosphorylase. Purification, cDNA cloning, and
            properties of the enzyme
  JOURNAL   J Biol Chem 273 (46), 30165-30174 (1998)
   PUBMED   9804772
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC098692.3.
            On Jul 1, 2020 this sequence version replaced NP_001186258.2.
            
            Summary: L-fucose is a key sugar in glycoproteins and other complex
            carbohydrates since it may be involved in many of the functional
            roles of these macromolecules, such as in cell-cell recognition.
            The fucosyl donor for these fucosylated oligosaccharides is
            GDP-beta-L-fucose. There are two alternate pathways for the
            biosynthesis of GDP-fucose; the major pathway converts
            GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by
            this gene participates in an alternate pathway that is present in
            certain mammalian tissues, such as liver and kidney, and appears to
            function as a salvage pathway to reutilize L-fucose arising from
            the turnover of glycoproteins and glycolipids. This pathway
            involves the phosphorylation of L-fucose to form
            beta-L-fucose-1-phosphate, and then condensation of the
            beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate
            guanylyltransferase to form GDP-beta-L-fucose. Alternative splicing
            results in multiple transcript variants. Read-through transcription
            also exists between this gene and the neighboring downstream TNNI3
            interacting kinase (TNNI3K) gene. [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' coding region, which results in a frameshift, compared to
            variant 1. It encodes isoform 2, which has a shorter and distinct
            C-terminus, compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK304490.1, SRR18074969.788481.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..169
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     Protein         1..169
                     /product="fucose-1-phosphate guanylyltransferase isoform
                     2"
                     /EC_number="2.7.7.30"
                     /note="GDP-beta-L-fucose pyrophosphorylase;
                     fucose-1-phosphate guanyltransferase; GDP-L-fucose
                     diphosphorylase"
                     /calculated_mol_wt=19039
     CDS             1..169
                     /gene="FPGT"
                     /gene_synonym="GFPP"
                     /coded_by="NM_001199329.3:38..547"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS55607.1"
                     /db_xref="GeneID:8790"
                     /db_xref="HGNC:HGNC:3825"
                     /db_xref="MIM:603609"
ORIGIN      
        1 maaardppev slreatqrkl rrfselrgkl vargefwdiv aitaadekqe laynqqlsek
       61 lkrkelplgv qyhvfvdpag akignggstl calqclekly gdkwnsftil lihsvsfqiy
      121 qnalakhpvs fkaywiqdvl whlaqlwsip dwglmfqlgk tallvvlts
//
LOCUS       NP_001372585             191 aa            linear   PRI 18-MAR-2023
DEFINITION  pulmonary surfactant-associated protein C isoform 2 [Homo sapiens].
ACCESSION   NP_001372585
VERSION     NP_001372585.1
DBSOURCE    REFSEQ: accession NM_001385656.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 191)
  AUTHORS   Ibanez LI, Martinez VP, Iglesias AA, Bellomo CM, Alonso DO, Coelho
            RM, Martinez Peralta L and Periolo N.
  TITLE     Decreased expression of surfactant Protein-C and CD74 in alveolar
            epithelial cells during influenza virus A(H1N1)pdm09 and H3N2
            infection
  JOURNAL   Microb Pathog 176, 106017 (2023)
   PUBMED   36736545
  REMARK    GeneRIF: Decreased expression of surfactant Protein-C and CD74 in
            alveolar epithelial cells during influenza virus A(H1N1)pdm09 and
            H3N2 infection.
REFERENCE   2  (residues 1 to 191)
  AUTHORS   Balinotti JE, Mallie C, Maffey A, Colom A, Epaud R, de Becdelievre
            A, Fanen P, Delestrain C, Medin M and Teper A.
  TITLE     Inherited pulmonary surfactant metabolism disorders in Argentina:
            Differences between patients with SFTPC and ABCA3 variants
  JOURNAL   Pediatr Pulmonol 58 (2), 540-549 (2023)
   PUBMED   36324278
  REMARK    GeneRIF: Inherited pulmonary surfactant metabolism disorders in
            Argentina: Differences between patients with SFTPC and ABCA3
            variants.
REFERENCE   3  (residues 1 to 191)
  AUTHORS   Otsubo Y, Fujita Y, Ando Y, Imataka G and Yoshihara S.
  TITLE     Elevated serum TARC/CCL17 levels associated with childhood
            interstitial lung disease with SFTPC gene mutation
  JOURNAL   Pediatr Pulmonol 57 (7), 1820-1822 (2022)
   PUBMED   35488463
  REMARK    GeneRIF: Elevated serum TARC/CCL17 levels associated with childhood
            interstitial lung disease with SFTPC gene mutation.
REFERENCE   4  (residues 1 to 191)
  AUTHORS   Fassan M, Collesei A, Angerilli V, Sbaraglia M, Fortarezza F,
            Pezzuto F, De Gaspari M, Businello G, Moni M, Rizzo S, Traverso G,
            Colosso V, Taschin E, Lunardi F, Valls AF, Schiavi F, Basso C,
            Calabrese F and Dei Tos AP.
  TITLE     Multi-Design Differential Expression Profiling of COVID-19 Lung
            Autopsy Specimens Reveals Significantly Deregulated Inflammatory
            Pathways and SFTPC Impaired Transcription
  JOURNAL   Cells 11 (6), 1011 (2022)
   PUBMED   35326463
  REMARK    GeneRIF: Multi-Design Differential Expression Profiling of COVID-19
            Lung Autopsy Specimens Reveals Significantly Deregulated
            Inflammatory Pathways and SFTPC Impaired Transcription.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 191)
  AUTHORS   Wu TT, Yu YM, Tang P, Zhuang QD, Zhang Y, Lai NY and Ding QL.
  TITLE     [Familial interstitial lung disease associated with surfactant
            protein C gene mutation in adults: report of two cases and
            literature review]
  JOURNAL   Zhonghua Jie He He Hu Xi Za Zhi 45 (1), 53-58 (2022)
   PUBMED   35000306
  REMARK    GeneRIF: [Familial interstitial lung disease associated with
            surfactant protein C gene mutation in adults: report of two cases
            and literature review].
            Review article
REFERENCE   6  (residues 1 to 191)
  AUTHORS   Garcia,C.K. and Talbert,J.L.
  TITLE     Pulmonary Fibrosis Predisposition Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301408
REFERENCE   7  (residues 1 to 191)
  AUTHORS   Keller A, Eistetter HR, Voss T and Schafer KP.
  TITLE     The pulmonary surfactant protein C (SP-C) precursor is a type II
            transmembrane protein
  JOURNAL   Biochem J 277 (Pt 2) (Pt 2), 493-499 (1991)
   PUBMED   1859376
REFERENCE   8  (residues 1 to 191)
  AUTHORS   Simatos GA, Forward KB, Morrow MR and Keough KM.
  TITLE     Interaction between perdeuterated dimyristoylphosphatidylcholine
            and low molecular weight pulmonary surfactant protein SP-C
  JOURNAL   Biochemistry 29 (24), 5807-5814 (1990)
   PUBMED   2383558
REFERENCE   9  (residues 1 to 191)
  AUTHORS   Curstedt T, Johansson J, Persson P, Eklund A, Robertson B,
            Lowenadler B and Jornvall H.
  TITLE     Hydrophobic surfactant-associated polypeptides: SP-C is a
            lipopeptide with two palmitoylated cysteine residues, whereas SP-B
            lacks covalently linked fatty acyl groups
  JOURNAL   Proc Natl Acad Sci U S A 87 (8), 2985-2989 (1990)
   PUBMED   2326260
REFERENCE   10 (residues 1 to 191)
  AUTHORS   Glasser SW, Korfhagen TR, Perme CM, Pilot-Matias TJ, Kister SE and
            Whitsett JA.
  TITLE     Two SP-C genes encoding human pulmonary surfactant proteolipid
  JOURNAL   J Biol Chem 263 (21), 10326-10331 (1988)
   PUBMED   2839484
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC105206.8.
            
            Summary: This gene encodes the pulmonary-associated surfactant
            protein C (SPC), an extremely hydrophobic surfactant protein
            essential for lung function and homeostasis after birth. Pulmonary
            surfactant is a surface-active lipoprotein complex composed of 90%
            lipids and 10% proteins which include plasma proteins and
            apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted
            by the alveolar cells of the lung and maintains the stability of
            pulmonary tissue by reducing the surface tension of fluids that
            coat the lung. Multiple mutations in this gene have been
            identified, which cause pulmonary surfactant metabolism dysfunction
            type 2, also called pulmonary alveolar proteinosis due to
            surfactant protein C deficiency, and are associated with
            interstitial lung disease in older infants, children, and adults.
            Alternatively spliced transcript variants encoding different
            protein isoforms have been identified.[provided by RefSeq, Feb
            2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.244029.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142363, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..191
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     Protein         1..191
                     /product="pulmonary surfactant-associated protein C
                     isoform 2"
                     /note="pulmonary surfactant apoprotein-2 SP-C; pulmonary
                     surfactant-associated proteolipid SPL(Val); BRICHOS domain
                     containing 6"
                     /calculated_mol_wt=20190
     Region          1..191
                     /region_name="SF_P"
                     /note="Pulmonary surfactant proteins; smart00019"
                     /db_xref="CDD:128335"
     CDS             1..191
                     /gene="SFTPC"
                     /gene_synonym="BRICD6; PSP-C; SFTP2; SMDP2; SP-C; SP5"
                     /coded_by="NM_001385656.1:728..1303"
                     /note="isoform 2 is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS55209.1"
                     /db_xref="GeneID:6440"
                     /db_xref="HGNC:HGNC:10802"
                     /db_xref="MIM:178620"
ORIGIN      
        1 mdvgskevlm esppdysaap rgrfgipccp vhlkrllivv vvvvlivvvi vgallmglhm
       61 sqkhtemvle msigapeaqq rlalsehlvt tatfsigstg lvvydyqqll iaykpapgtc
      121 cyimkiapes ipslealtrk vhnfqakpav ptsklgqaeg rdagsapsgg dpaflgmavs
      181 tlcgevplyy i
//
LOCUS       NP_001364059             924 aa            linear   PRI 19-MAR-2023
DEFINITION  adenylate cyclase type 3 isoform 5 [Homo sapiens].
ACCESSION   NP_001364059
VERSION     NP_001364059.1
DBSOURCE    REFSEQ: accession NM_001377130.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 924)
  AUTHORS   Ye CY, Xin JR, Li Z, Yin XY, Guo SL, Li JM, Zhao TY, Wang L and
            Yang L.
  TITLE     ALDH2, ADCY3 and BCMO1 polymorphisms and lifestyle-induced traits
            are jointly associated with CAD risk in Chinese Han people
  JOURNAL   Gene 807, 145948 (2022)
   PUBMED   34481002
  REMARK    GeneRIF: ALDH2, ADCY3 and BCMO1 polymorphisms and lifestyle-induced
            traits are jointly associated with CAD risk in Chinese Han people.
REFERENCE   2  (residues 1 to 924)
  AUTHORS   Toumba M, Fanis P, Vlachakis D, Neocleous V, Phylactou LA, Skordis
            N, Mantzoros CS and Pantelidou M.
  TITLE     Molecular modelling of novel ADCY3 variant predicts a molecular
            target for tackling obesity
  JOURNAL   Int J Mol Med 49 (1) (2022)
   PUBMED   34821371
  REMARK    GeneRIF: Molecular modelling of novel ADCY3 variant predicts a
            molecular target for tackling obesity.
REFERENCE   3  (residues 1 to 924)
  AUTHORS   Goni L, Riezu-Boj JI, Milagro FI, Corrales FJ, Ortiz L, Cuervo M
            and Martinez JA.
  TITLE     Interaction between an ADCY3 Genetic Variant and Two
            Weight-Lowering Diets Affecting Body Fatness and Body Composition
            Outcomes Depending on Macronutrient Distribution: A Randomized
            Trial
  JOURNAL   Nutrients 10 (6), 789 (2018)
   PUBMED   29921800
  REMARK    GeneRIF: This study showed that subjects carrying the G allele of
            the rs10182181 polymorphism may benefit more in terms of weight
            loss and improvement of body composition measurements when
            undertaking a hypocaloric low-fat diet as compared to a
            moderately-high-protein diet.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 924)
  AUTHORS   Saeed S, Bonnefond A, Tamanini F, Mirza MU, Manzoor J, Janjua QM,
            Din SM, Gaitan J, Milochau A, Durand E, Vaillant E, Haseeb A, De
            Graeve F, Rabearivelo I, Sand O, Queniat G, Boutry R, Schott DA,
            Ayesha H, Ali M, Khan WI, Butt TA, Rinne T, Stumpel C, Abderrahmani
            A, Lang J, Arslan M and Froguel P.
  TITLE     Loss-of-function mutations in ADCY3 cause monogenic severe obesity
  JOURNAL   Nat Genet 50 (2), 175-179 (2018)
   PUBMED   29311637
  REMARK    GeneRIF: ADCY3 is an important mediator of energy homeostasis and
            an attractive pharmacological target in the treatment of obesity.
REFERENCE   5  (residues 1 to 924)
  AUTHORS   Grarup N, Moltke I, Andersen MK, Dalby M, Vitting-Seerup K, Kern T,
            Mahendran Y, Jorsboe E, Larsen CVL, Dahl-Petersen IK, Gilly A,
            Suveges D, Dedoussis G, Zeggini E, Pedersen O, Andersson R,
            Bjerregaard P, Jorgensen ME, Albrechtsen A and Hansen T.
  TITLE     Loss-of-function variants in ADCY3 increase risk of obesity and
            type 2 diabetes
  JOURNAL   Nat Genet 50 (2), 172-174 (2018)
   PUBMED   29311636
  REMARK    GeneRIF: An enrichment of rare ADCY3 loss-of-function variants
            among individuals with type 2 diabetes in trans-ancestry cohorts.
REFERENCE   6  (residues 1 to 924)
  AUTHORS   Gaudin C, Homcy CJ and Ishikawa Y.
  TITLE     Mammalian adenylyl cyclase family members are randomly located on
            different chromosomes
  JOURNAL   Hum Genet 94 (5), 527-529 (1994)
   PUBMED   7959689
REFERENCE   7  (residues 1 to 924)
  AUTHORS   Kleuss C, Raw AS, Lee E, Sprang SR and Gilman AG.
  TITLE     Mechanism of GTP hydrolysis by G-protein alpha subunits
  JOURNAL   Proc Natl Acad Sci U S A 91 (21), 9828-9831 (1994)
   PUBMED   7937899
REFERENCE   8  (residues 1 to 924)
  AUTHORS   Haber N, Stengel D, Defer N, Roeckel N, Mattei MG and Hanoune J.
  TITLE     Chromosomal mapping of human adenylyl cyclase genes type III, type
            V and type VI
  JOURNAL   Hum Genet 94 (1), 69-73 (1994)
   PUBMED   8034296
REFERENCE   9  (residues 1 to 924)
  AUTHORS   Hellevuo K, Yoshimura M, Kao M, Hoffman PL, Cooper DM and Tabakoff
            B.
  TITLE     A novel adenylyl cyclase sequence cloned from the human
            erythroleukemia cell line
  JOURNAL   Biochem Biophys Res Commun 192 (1), 311-318 (1993)
   PUBMED   8476432
REFERENCE   10 (residues 1 to 924)
  AUTHORS   Taylor SS, Buechler JA and Yonemoto W.
  TITLE     cAMP-dependent protein kinase: framework for a diverse family of
            regulatory enzymes
  JOURNAL   Annu Rev Biochem 59, 971-1005 (1990)
   PUBMED   2165385
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012073.9.
            
            Summary: This gene encodes adenylyl cyclase 3 which is a
            membrane-associated enzyme and catalyzes the formation of the
            secondary messenger cyclic adenosine monophosphate (cAMP). This
            protein appears to be widely expressed in various human tissues and
            may be involved in a number of physiological and pathophysiological
            metabolic processes. Two transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Feb
            2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA2467146 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..924
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     Protein         1..924
                     /product="adenylate cyclase type 3 isoform 5"
                     /EC_number="4.6.1.1"
                     /note="adenylyl cyclase, type III; adenylate cyclase type
                     3; adenylyl cyclase 3; ATP pyrophosphate-lyase 3;
                     adenylate cyclase type III; adenylate cyclase, olfactive
                     type"
                     /calculated_mol_wt=103890
     Region          <44..303
                     /region_name="AC_N"
                     /note="Adenylyl cyclase N-terminal extracellular and
                     transmembrane region; pfam16214"
                     /db_xref="CDD:318454"
     Site            80..100
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            105..125
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            139..159
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            173..193
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            226..246
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Region          310..494
                     /region_name="Guanylate_cyc"
                     /note="Adenylate and Guanylate cyclase catalytic domain;
                     pfam00211"
                     /db_xref="CDD:425528"
     Site            order(322,324..329,364,366..368,371,433..435,439..440,
                     443..444)
                     /site_type="active"
                     /note="nucleotidyl binding site [active]"
                     /db_xref="CDD:143636"
     Site            order(324,368)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:143636"
     Site            order(329,341,344..345,348,352,364..365,421,424,434..437,
                     440)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143636"
     Site            381..401
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Region          504..566
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            525
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60266.3)"
     Site            580
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VHH7; propagated from
                     UniProtKB/Swiss-Prot (O60266.3)"
     Site            633..653
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            664..684
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Region          757..>900
                     /region_name="Nucleotidyl_cyc_III"
                     /note="Class III nucleotidyl cyclases; cl11967"
                     /db_xref="CDD:448371"
     CDS             1..924
                     /gene="ADCY3"
                     /gene_synonym="AC-III; AC3; BMIQ19"
                     /coded_by="NM_001377130.1:753..3527"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:109"
                     /db_xref="HGNC:HGNC:234"
                     /db_xref="MIM:600291"
ORIGIN      
        1 mprnqgfsep eysaeysaey svslpsdpdr gvgrtheisv rnsgsclclp rfmrltfvpe
       61 slenlyqtyf krqrhetllv lvvfaalfdc yvvvmcavvf ssdklaslav agiglvldii
      121 lfvlckkgll pdrvtrrvlp yvlwllitaq ifsylglnfa rahaasdtvg wqvffvfsff
      181 itlplslspi viisvvscvv htlvlgvtva qqqqeelkgm qllreilanv flylcaiavg
      241 imsyymadrk hrkaflearq slevkmnlee qsqqqenlml silpkhvade mlkdmkkdes
      301 qkdqqqfntm ymyrhenvsi lfadivgftq lssacsaqel vkllnelfar fdklaakyhq
      361 lrikilgdcy ycicglpdyr edhavcsilm glamveaisy vrektktgvd mrvgvhtgtv
      421 lggvlgqkrw qydvwstdvt vankmeaggi pgrvhisqst mdclkgefdv epgdggsrcd
      481 yleekgiety liiaskpevk ktatqnglng salpngapas skssspalie tkepngsahs
      541 sgstsekpee qdaqadnpsf pnprrrlrlq dladrvvdas edehelnqll nealleresa
      601 qvvkkrntfl lsmrfmdpem etrysvekek qsgaafscsc vvllctalve ilidpwlmtn
      661 yvtfmvgeil llilticsla aifprafpkk lvafstwidr trwarntwam laifilvman
      721 vvdmveklar tlflwkievh dqkervyemr rwnealvtnm lpehvarhfl gskkrdelld
      781 npkfrvitki ktigstymaa sgvtpdvntn gfassnkedk sererwqhla dladfalamk
      841 dtltninnqs fnnfmlrigm nkggvlagvi garkphydiw gntvnvasrm estgvmgniq
      901 wrlaeklher gkgteeqava vsrw
//
LOCUS       NP_001309406             700 aa            linear   PRI 19-MAR-2023
DEFINITION  BLOC-3 complex member HPS1 isoform a [Homo sapiens].
ACCESSION   NP_001309406 XP_005269812
VERSION     NP_001309406.1
DBSOURCE    REFSEQ: accession NM_001322477.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 700)
  AUTHORS   Shakil M, Akbar A, Aisha NM, Hussain I, Ullah MI, Atif M, Kaul H,
            Amar A, Latif MZ, Qureshi MA and Mahmood S.
  TITLE     Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and
            HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani
            Families
  JOURNAL   Genes (Basel) 13 (3), 503 (2022)
   PUBMED   35328057
  REMARK    GeneRIF: Delineating Novel and Known Pathogenic Variants in TYR,
            OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA)
            Pakistani Families.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 700)
  AUTHORS   Suezawa T, Kanagaki S, Korogi Y, Nakao K, Hirai T, Murakami K,
            Hagiwara M and Gotoh S.
  TITLE     Modeling of lung phenotype of Hermansky-Pudlak syndrome type I
            using patient-specific iPSCs
  JOURNAL   Respir Res 22 (1), 284 (2021)
   PUBMED   34736469
  REMARK    GeneRIF: Modeling of lung phenotype of Hermansky-Pudlak syndrome
            type I using patient-specific iPSCs.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 700)
  AUTHORS   Wang C, Shi P, Li Q, Chen C, Zhao X, Zhang R and Kong X.
  TITLE     Hermansky-Pudlak syndrome: Five Chinese patients with novel
            variants in HPS1 and HPS6
  JOURNAL   Eur J Med Genet 64 (6), 104228 (2021)
   PUBMED   33878481
  REMARK    GeneRIF: Hermansky-Pudlak syndrome: Five Chinese patients with
            novel variants in HPS1 and HPS6.
REFERENCE   4  (residues 1 to 700)
  AUTHORS   Yu J, He X, Wei A, Liu T, Zhang Q, Pan Y, Hao Z, Yang L, Yuan Y,
            Zhang Z, Zhang C, Hao C, Liu Z and Li W.
  TITLE     HPS1 Regulates the Maturation of Large Dense Core Vesicles and
            Lysozyme Secretion in Paneth Cells
  JOURNAL   Front Immunol 11, 560110 (2020)
   PUBMED   33224134
  REMARK    GeneRIF: HPS1 Regulates the Maturation of Large Dense Core Vesicles
            and Lysozyme Secretion in Paneth Cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 700)
  AUTHORS   Ghafouri-Fard S, Hashemi-Gorji F, Yassaee VR, Alipour N and
            Miryounesi M.
  TITLE     A Novel Splice Site Mutation in HPS1 Gene is Associated with
            Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family
  JOURNAL   Int J Mol Cell Med 5 (3), 192-195 (2016)
   PUBMED   27942505
REFERENCE   6  (residues 1 to 700)
  AUTHORS   Bailin T, Oh J, Feng GH, Fukai K and Spritz RA.
  TITLE     Organization and nucleotide sequence of the human Hermansky-Pudlak
            syndrome (HPS) gene
  JOURNAL   J Invest Dermatol 108 (6), 923-927 (1997)
   PUBMED   9182823
REFERENCE   7  (residues 1 to 700)
  AUTHORS   Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N
            and Spritz RA.
  TITLE     Positional cloning of a gene for Hermansky-Pudlak syndrome, a
            disorder of cytoplasmic organelles
  JOURNAL   Nat Genet 14 (3), 300-306 (1996)
   PUBMED   8896559
REFERENCE   8  (residues 1 to 700)
  AUTHORS   Wildenberg SC, Oetting WS, Almodovar C, Krumwiede M, White JG and
            King RA.
  TITLE     A gene causing Hermansky-Pudlak syndrome in a Puerto Rican
            population maps to chromosome 10q2
  JOURNAL   Am J Hum Genet 57 (4), 755-765 (1995)
   PUBMED   7573033
REFERENCE   9  (residues 1 to 700)
  AUTHORS   Fukai K, Oh J, Frenk E, Almodovar C and Spritz RA.
  TITLE     Linkage disequilibrium mapping of the gene for Hermansky-Pudlak
            syndrome to chromosome 10q23.1-q23.3
  JOURNAL   Hum Mol Genet 4 (9), 1665-1669 (1995)
   PUBMED   8541858
REFERENCE   10 (residues 1 to 700)
  AUTHORS   Huizing,M., Malicdan,M.C.V., Gochuico,B.R. and Gahl,W.A.
  TITLE     Hermansky-Pudlak Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301464
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139243.11.
            On Apr 13, 2016 this sequence version replaced XP_005269812.1.
            
            Summary: This gene encodes a protein that may play a role in
            organelle biogenesis associated with melanosomes, platelet dense
            granules, and lysosomes. The encoded protein is a component of
            three different protein complexes termed biogenesis of
            lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5.
            Mutations in this gene are associated with Hermansky-Pudlak
            syndrome type 1. Alternative splicing results in multiple
            transcript variants. A pseudogene related to this gene is located
            on chromosome 22. [provided by RefSeq, Aug 2015].
            
            Transcript Variant: This variant (7), along with variants 1 and 6,
            encodes isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: BC127087.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..700
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     Protein         1..700
                     /product="BLOC-3 complex member HPS1 isoform a"
                     /note="Hermansky-Pudlak syndrome 1 protein; BLOC-3 complex
                     member HPS1"
                     /calculated_mol_wt=79161
     Region          2..159
                     /region_name="Fuz_longin_1"
                     /note="First Longin domain of FUZ, MON1 and HPS1;
                     pfam19036"
                     /db_xref="CDD:408806"
     Region          45..51
                     /region_name="[DE]-X(4)-L-L 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92902.2)"
     Region          147..153
                     /region_name="[DE]-X(4)-L-L 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92902.2)"
     Region          204..>253
                     /region_name="Fuz_longin_2"
                     /note="Second Longin domain of FUZ, MON1 and HPS1;
                     pfam19037"
                     /db_xref="CDD:408807"
     Region          249..317
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92902.2)"
     Region          516..522
                     /region_name="[DE]-X(4)-L-L 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92902.2)"
     Region          540..695
                     /region_name="Fuz_longin_3"
                     /note="Third Longin domain of FUZ, MON1 and HPS1;
                     pfam19038"
                     /db_xref="CDD:408808"
     Region          644..650
                     /region_name="[DE]-X(4)-L-L 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92902.2)"
     Region          698..700
                     /region_name="Melanosome targeting signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92902.2)"
     CDS             1..700
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /coded_by="NM_001322477.2:244..2346"
                     /note="isoform a is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS7475.1"
                     /db_xref="GeneID:3257"
                     /db_xref="HGNC:HGNC:5163"
                     /db_xref="MIM:604982"
ORIGIN      
        1 mkcvlvateg aevlfywtdq efeeslrlkf gqseneeeel paledqlstl lapviissmt
       61 mleklsdtyt cfstengnfl yvlhlfgecl fiaingdhte segdlrrkly vlkylfevhf
      121 glvtvdghli rkelrppdla qrvqlwehfq sllwtysrlr eqeqcfavea lerlihpqlc
      181 elciealerh viqavntspe rggeealhaf llvhskllaf ysshsasslr padllalill
      241 vqdlypsest aeddiqpspr rarssqnipv qqawsphstg ptggssaete tdsfslpeey
      301 ftpapspgdq ssgstiwleg gtppmdalqi aedtlqtlvp hcpvpsgprr ifldanvkes
      361 ycplvphtmy clplwqginl vlltrspsap lalvlsqlmd gfsmlekklk egpepgaslr
      421 sqplvgdlrq rmdkfvknrg aqeiqstwle fkakafskse pgsswellqa cgklkrqlca
      481 iyrlnfltta psrggphlpq hlqdqvqrlm rekltdwkdf llvksrrnit mvsyledfpg
      541 lvhfiyvdrt tgqmvapsln csqktsselg kgplaafvkt kvwsliqlar rylqkgyttl
      601 lfqegdfycs yflwfendmg yklqmievpv lsddsvpigm lggdyyrkll ryysknrpte
      661 avrcyellal hlsviptdll vqqagqlarr lweasripll
//
LOCUS       NP_001309407             667 aa            linear   PRI 19-MAR-2023
DEFINITION  BLOC-3 complex member HPS1 isoform f [Homo sapiens].
ACCESSION   NP_001309407
VERSION     NP_001309407.1
DBSOURCE    REFSEQ: accession NM_001322478.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 667)
  AUTHORS   Shakil M, Akbar A, Aisha NM, Hussain I, Ullah MI, Atif M, Kaul H,
            Amar A, Latif MZ, Qureshi MA and Mahmood S.
  TITLE     Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and
            HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani
            Families
  JOURNAL   Genes (Basel) 13 (3), 503 (2022)
   PUBMED   35328057
  REMARK    GeneRIF: Delineating Novel and Known Pathogenic Variants in TYR,
            OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA)
            Pakistani Families.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 667)
  AUTHORS   Suezawa T, Kanagaki S, Korogi Y, Nakao K, Hirai T, Murakami K,
            Hagiwara M and Gotoh S.
  TITLE     Modeling of lung phenotype of Hermansky-Pudlak syndrome type I
            using patient-specific iPSCs
  JOURNAL   Respir Res 22 (1), 284 (2021)
   PUBMED   34736469
  REMARK    GeneRIF: Modeling of lung phenotype of Hermansky-Pudlak syndrome
            type I using patient-specific iPSCs.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 667)
  AUTHORS   Wang C, Shi P, Li Q, Chen C, Zhao X, Zhang R and Kong X.
  TITLE     Hermansky-Pudlak syndrome: Five Chinese patients with novel
            variants in HPS1 and HPS6
  JOURNAL   Eur J Med Genet 64 (6), 104228 (2021)
   PUBMED   33878481
  REMARK    GeneRIF: Hermansky-Pudlak syndrome: Five Chinese patients with
            novel variants in HPS1 and HPS6.
REFERENCE   4  (residues 1 to 667)
  AUTHORS   Yu J, He X, Wei A, Liu T, Zhang Q, Pan Y, Hao Z, Yang L, Yuan Y,
            Zhang Z, Zhang C, Hao C, Liu Z and Li W.
  TITLE     HPS1 Regulates the Maturation of Large Dense Core Vesicles and
            Lysozyme Secretion in Paneth Cells
  JOURNAL   Front Immunol 11, 560110 (2020)
   PUBMED   33224134
  REMARK    GeneRIF: HPS1 Regulates the Maturation of Large Dense Core Vesicles
            and Lysozyme Secretion in Paneth Cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 667)
  AUTHORS   Ghafouri-Fard S, Hashemi-Gorji F, Yassaee VR, Alipour N and
            Miryounesi M.
  TITLE     A Novel Splice Site Mutation in HPS1 Gene is Associated with
            Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family
  JOURNAL   Int J Mol Cell Med 5 (3), 192-195 (2016)
   PUBMED   27942505
REFERENCE   6  (residues 1 to 667)
  AUTHORS   Bailin T, Oh J, Feng GH, Fukai K and Spritz RA.
  TITLE     Organization and nucleotide sequence of the human Hermansky-Pudlak
            syndrome (HPS) gene
  JOURNAL   J Invest Dermatol 108 (6), 923-927 (1997)
   PUBMED   9182823
REFERENCE   7  (residues 1 to 667)
  AUTHORS   Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N
            and Spritz RA.
  TITLE     Positional cloning of a gene for Hermansky-Pudlak syndrome, a
            disorder of cytoplasmic organelles
  JOURNAL   Nat Genet 14 (3), 300-306 (1996)
   PUBMED   8896559
REFERENCE   8  (residues 1 to 667)
  AUTHORS   Wildenberg SC, Oetting WS, Almodovar C, Krumwiede M, White JG and
            King RA.
  TITLE     A gene causing Hermansky-Pudlak syndrome in a Puerto Rican
            population maps to chromosome 10q2
  JOURNAL   Am J Hum Genet 57 (4), 755-765 (1995)
   PUBMED   7573033
REFERENCE   9  (residues 1 to 667)
  AUTHORS   Fukai K, Oh J, Frenk E, Almodovar C and Spritz RA.
  TITLE     Linkage disequilibrium mapping of the gene for Hermansky-Pudlak
            syndrome to chromosome 10q23.1-q23.3
  JOURNAL   Hum Mol Genet 4 (9), 1665-1669 (1995)
   PUBMED   8541858
REFERENCE   10 (residues 1 to 667)
  AUTHORS   Huizing,M., Malicdan,M.C.V., Gochuico,B.R. and Gahl,W.A.
  TITLE     Hermansky-Pudlak Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301464
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139243.11.
            
            Summary: This gene encodes a protein that may play a role in
            organelle biogenesis associated with melanosomes, platelet dense
            granules, and lysosomes. The encoded protein is a component of
            three different protein complexes termed biogenesis of
            lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5.
            Mutations in this gene are associated with Hermansky-Pudlak
            syndrome type 1. Alternative splicing results in multiple
            transcript variants. A pseudogene related to this gene is located
            on chromosome 22. [provided by RefSeq, Aug 2015].
            
            Transcript Variant: This variant (8) and variant 9 both encode
            isoform f.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..667
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     Protein         1..667
                     /product="BLOC-3 complex member HPS1 isoform f"
                     /note="Hermansky-Pudlak syndrome 1 protein; BLOC-3 complex
                     member HPS1"
                     /calculated_mol_wt=75747
     Region          2..159
                     /region_name="Fuz_longin_1"
                     /note="First Longin domain of FUZ, MON1 and HPS1;
                     pfam19036"
                     /db_xref="CDD:408806"
     Region          204..372
                     /region_name="Fuz_longin_2"
                     /note="Second Longin domain of FUZ, MON1 and HPS1;
                     pfam19037"
                     /db_xref="CDD:408807"
     Region          507..662
                     /region_name="Fuz_longin_3"
                     /note="Third Longin domain of FUZ, MON1 and HPS1;
                     pfam19038"
                     /db_xref="CDD:408808"
     CDS             1..667
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /coded_by="NM_001322478.2:164..2167"
                     /note="isoform f is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS91316.1"
                     /db_xref="GeneID:3257"
                     /db_xref="HGNC:HGNC:5163"
                     /db_xref="MIM:604982"
ORIGIN      
        1 mkcvlvateg aevlfywtdq efeeslrlkf gqseneeeel paledqlstl lapviissmt
       61 mleklsdtyt cfstengnfl yvlhlfgecl fiaingdhte segdlrrkly vlkylfevhf
      121 glvtvdghli rkelrppdla qrvqlwehfq sllwtysrlr eqeqcfavea lerlihpqlc
      181 elciealerh viqavntspe rggeealhaf llvhskllaf ysshsasslr padllalill
      241 vqdlypsest aeddiqetds fslpeeyftp apspgdqssg stiwleggtp pmdalqiaed
      301 tlqtlvphcp vpsgprrifl danvkesycp lvphtmyclp lwqginlvll trspsaplal
      361 vlsqlmdgfs mlekklkegp epgaslrsqp lvgdlrqrmd kfvknrgaqe iqstwlefka
      421 kafsksepgs swellqacgk lkrqlcaiyr lnflttapsr ggphlpqhlq dqvqrlmrek
      481 ltdwkdfllv ksrrnitmvs yledfpglvh fiyvdrttgq mvapslncsq ktsselgkgp
      541 laafvktkvw sliqlarryl qkgyttllfq egdfycsyfl wfendmgykl qmievpvlsd
      601 dsvpigmlgg dyyrkllryy sknrpteavr cyellalhls viptdllvqq agqlarrlwe
      661 asripll
//
LOCUS       XP_047276252             315 aa            linear   PRI 20-MAR-2023
DEFINITION  olfactory receptor 6K3 isoform X1 [Homo sapiens].
ACCESSION   XP_047276252
VERSION     XP_047276252.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420296.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..315
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..315
                     /product="olfactory receptor 6K3 isoform X1"
                     /calculated_mol_wt=35436
     Region          25..293
                     /region_name="7tmA_OR6N-like"
                     /note="olfactory receptor OR6N and related proteins,
                     member of the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15914"
                     /db_xref="CDD:320580"
     Region          26..52
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320580"
     Region          59..85
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320580"
     Site            order(81,84..85,97..102,104..105,108,153,155..159,194,
                     197..199,201..203,205..206,251,254..255,257..258,261,
                     267..268,270..272,275,278..279)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320580"
     Region          97..127
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320580"
     Region          140..161
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320580"
     Region          194..224
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320580"
     Region          231..261
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320580"
     Region          268..293
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320580"
     CDS             1..315
                     /gene="OR6K3"
                     /gene_synonym="OR1-18"
                     /coded_by="XM_047420296.1:179..1126"
                     /db_xref="GeneID:391114"
                     /db_xref="HGNC:HGNC:15030"
ORIGIN      
        1 mesgnqstvt efiftgfpql qdgsllyffp llfiytfiii dnllifsavr ldthlhnpmy
       61 nfisifsfle iwyttatipk mlsnlisekk aismtgcilq myffhslens egillttmai
      121 dryvaicnpl ryqmimtprl caqlsagscl fgflillpei vmistlpfcg pnqihqifcd
      181 lvpvlslact dtsmiliedv ihavtiiitf liialsyvri vtvilripss egrqkafstc
      241 aghlmvfpif fgsvslmylr fsdtyppvld taialmftvl apffnpiiys lrnkdmnnai
      301 kklfclqkvl nkpgg
//
LOCUS       XP_047281031             778 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein R3HCC1L isoform X2 [Homo
            sapiens].
ACCESSION   XP_047281031
VERSION     XP_047281031.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425075.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..778
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..778
                     /product="coiled-coil domain-containing protein R3HCC1L
                     isoform X2"
                     /calculated_mol_wt=86163
     Region          630..694
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     CDS             1..778
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /coded_by="XM_047425075.1:996..3332"
                     /db_xref="GeneID:27291"
                     /db_xref="HGNC:HGNC:23512"
ORIGIN      
        1 mqqesercrv rarrpdmaly vpkarrgavl lktgdeeesc gspnsvvkek qkesslsqke
       61 vfkdkpearr lninpdrkeh ncreekksst klrmdtclqk tnrvcskrgt teskevlsqg
      121 qqqgapnagv itnaplqrhf kpkkveclev ettdvtgher illsqaclei seaqvpskpf
      181 qnvefcdfsr hepdgeafed kdlegrietd tkvleilyef prvfssvmkp enmivpikls
      241 sdseivqqsm qtsdgilnps sggitttsvp gspdgvfdqt cvdfevesvg gianstgfil
      301 dqkdtdsipa tmghislses tndtvspvmi recekndsta delhvkhepp dtavlaheth
      361 rdsgfknvgd itnkacmmdt tgmscsdhvt vdspyvvavr iadetsintr sfskfvgmsa
      421 datplhvars gndtedfsnp sacsdiyges isshftestg klieslsdca sslpikkiag
      481 snyntfldse lsmlngtkvl sdsavgidlg stgdttealh elrtaeefkt eeqddsgsie
      541 fgvsfpdres ssmetsiepk atetshtegi taieeswesm fnddgdcldp rllqelsgnt
      601 ksresiqepr sdyynhevpd idlsdcefph vieiydfpqe fhtedllrvf csyqkkgfdi
      661 kwvddthalg vfsspitard algikhtmvk irplsqatra akakarayae flqpakerpe
      721 tsaalarrlv isalgvrskq sktereaelk klqearerkr leakqrediw egrdqstv
//
LOCUS       XP_047281093             921 aa            linear   PRI 20-MAR-2023
DEFINITION  hexokinase-1 isoform X1 [Homo sapiens].
ACCESSION   XP_047281093
VERSION     XP_047281093.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425137.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..921
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..921
                     /product="hexokinase-1 isoform X1"
                     /calculated_mol_wt=102608
     Region          16..464
                     /region_name="PTZ00107"
                     /note="hexokinase; Provisional"
                     /db_xref="CDD:240270"
     Region          473..671
                     /region_name="Hexokinase_1"
                     /note="pfam00349"
                     /db_xref="CDD:395278"
     Site            order(536..539,541,543,661,681..684)
                     /site_type="other"
                     /note="nucleotide binding site [chemical binding]"
                     /db_xref="CDD:212657"
     Region          677..911
                     /region_name="Hexokinase_2"
                     /note="pfam03727"
                     /db_xref="CDD:397683"
     CDS             1..921
                     /gene="HK1"
                     /gene_synonym="hexokinase; HK; HK1-ta; HK1-tb; HK1-tc;
                     HKD; HKI; HMSNR; HXK1; NEDVIBA; RP79"
                     /coded_by="XM_047425137.1:449..3214"
                     /db_xref="GeneID:3098"
                     /db_xref="HGNC:HGNC:4922"
                     /db_xref="MIM:142600"
ORIGIN      
        1 mgqicqresa taaekpklhl laeseidkyl yamrlsdetl idimtrfrke mknglsrdfn
       61 ptatvkmlpt fvrsipdgse kgdfialdlg gssfrilrvq vnheknqnvh mesevydtpe
      121 nivhgsgsql fdhvaeclgd fmekrkikdk klpvgftfsf pcqqskidea ilitwtkrfk
      181 asgvegadvv kllnkaikkr gdydanivav vndtvgtmmt cgyddqhcev gliigtgtna
      241 cymeelrhid lvegdegrmc intewgafgd dgsledirte fdreidrgsl npgkqlfekm
      301 vsgmylgelv rlilvkmake gllfegritp elltrgkfnt sdvsaieknk eglhnakeil
      361 trlgvepsdd dcvsvqhvct ivsfrsanlv aatlgailnr lrdnkgtprl rttvgvdgsl
      421 ykthpqysrr fhktlrrlvp dsdvrfllse sgsgkgaamv tavayrlaeq hrqieetlah
      481 fhltkdmlle vkkrmraeme lglrkqthnn avvkmlpsfv rrtpdgteng dflaldlggt
      541 nfrvllvkir sgkkrtvemh nkiyaipiei mqgtgeelfd hivscisdfl dymgikgprm
      601 plgftfsfpc qqtsldagil itwtkgfkat dcvghdvvtl lrdaikrree fdldvvavvn
      661 dtvgtmmtca yeeptcevgl ivgtgsnacy meemknvemv egdqgqmcin mewgafgdng
      721 clddirthyd rlvdeyslna gkqryekmis gmylgeivrn ilidftkkgf lfrgqisetl
      781 ktrgifetkf lsqiesdrla llqvrailqq lglnstcdds ilvktvcgvv srraaqlcga
      841 gmaavvdkir enrgldrlnv tvgvdgtlyk lhphfsrimh qtvkelspkc nvsfllsedg
      901 sgkgaalita vgvrlrteas s
//
LOCUS       XP_011519250             650 aa            linear   PRI 20-MAR-2023
DEFINITION  non-homologous end joining factor IFFO1 isoform X4 [Homo sapiens].
ACCESSION   XP_011519250
VERSION     XP_011519250.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011520948.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..650
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..650
                     /product="non-homologous end joining factor IFFO1 isoform
                     X4"
                     /calculated_mol_wt=71809
     Region          230..>354
                     /region_name="Filament"
                     /note="Intermediate filament protein; pfam00038"
                     /db_xref="CDD:425436"
     Region          <539..609
                     /region_name="Filament"
                     /note="Intermediate filament protein; pfam00038"
                     /db_xref="CDD:425436"
     CDS             1..650
                     /gene="IFFO1"
                     /gene_synonym="HOM-TES-103; IFFO"
                     /coded_by="XM_011520948.4:14..1966"
                     /db_xref="GeneID:25900"
                     /db_xref="HGNC:HGNC:24970"
                     /db_xref="MIM:610495"
ORIGIN      
        1 mnplfgpnlf llqqeqqgla gplgdslggd hfagggdlpp aplspagpaa ysppgpgpap
       61 paamalrndl gsninvlktl nlrfrcflak vhelerrnrl lekqlqqale egkqgrrglg
      121 rrdqavqtgf vspirplglq lgarpaavcs psarvlgspa rspagplaps aaslssssts
      181 tsttysssar fmpgtiwsfs harrlgpgle ptlvqgpgls wvhpdgvgvq idtitpeira
      241 lynvlakvkr erdeykrrwe eeytvriqlq drvnelqeea qeadacqeel alkveqlkae
      301 lvvfkglmsn nlseldtkiq ekamkvdmdi crriditakl cdvaqqrnce dmiqmfqklv
      361 psmggrkrer kaaveedtsl sesegprqpd gdeeestals ineemqrmln qlreydfedd
      421 cdsltweete etlllwedfs gyamaaaeaq gevtsapglr alwlclsslk ptppllsllc
      481 ppmwlssstc vsplplsfcf sfssffnqts slslsltwpf gmrpipsllg wppplpfllq
      541 qqedslekvi kdteslfktr ekeyqetidq ielelatakn dmnrhlheym emcsmkrgld
      601 vqmetcrrli tqsgdrkspa ftavplsdpp pppseaedsd rdvssdssmr
//
LOCUS       XP_047285129             582 aa            linear   PRI 20-MAR-2023
DEFINITION  basic helix-loop-helix ARNT-like protein 2 isoform X5 [Homo
            sapiens].
ACCESSION   XP_047285129
VERSION     XP_047285129.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429173.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..582
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..582
                     /product="basic helix-loop-helix ARNT-like protein 2
                     isoform X5"
                     /calculated_mol_wt=64587
     Region          85..144
                     /region_name="bHLH-PAS_ARNTL2_PASD9"
                     /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS)
                     domain found in aryl hydrocarbon receptor nuclear
                     translocator-like protein 2 (ARNTL2) and similar proteins;
                     cd11469"
                     /db_xref="CDD:381475"
     Site            order(85..86,89..90,93,96..97,101,122..123)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381475"
     Site            order(100,103,106..107,124,127..128,131,133..135,137)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381475"
     Region          316..418
                     /region_name="PAS_11"
                     /note="PAS domain; pfam14598"
                     /db_xref="CDD:434060"
     CDS             1..582
                     /gene="BMAL2"
                     /gene_synonym="ARNTL2; bHLHe6; CLIF; MOP9; PASD9"
                     /coded_by="XM_047429173.1:238..1986"
                     /db_xref="GeneID:56938"
                     /db_xref="HGNC:HGNC:18984"
                     /db_xref="MIM:614517"
ORIGIN      
        1 maaeeeaaag gevaggeata pgkvlreenq ciapvvssrv spgtrptamg sfsshmtefp
       61 rkrkgsdsdp sqvedgehqv kmkafreahs qtekrrrdkm nnlieelsam ipqcnpmark
      121 ldkltvlrma vqhlrslkgl tnsyvgsnyr psflqdnelr hlilkasltg qslfdflhpk
      181 dvakvkeqls sfdisprekl idaktglqvh snlhagrtrv ysgsrrsffc riksckisvk
      241 eehgclpnsk kkehrkfyti hctgylrswp pnivgmeeer nskkdnsnft clvaigrlqp
      301 yivpqnsgei nvkptefitr favngkfvyv dqratailgy lpqellgtsc yeyfhqddhn
      361 nltdkhkavl qskekiltds ykfrakdgsf vtlksqwfsf tnpwtkeley ivsvntlvlg
      421 hsepgeasfl pcssqssees srqscmsvpg mstgtvlgag sigtdianei ldlqrlqsss
      481 ylddssptgl mkdthtvncr smsnkelfpp spsemgelea trqnqstvav hshepllsdg
      541 aqldfdalcd nddtamaafm nyleaegglg dpgdfsdiqw tl
//
LOCUS       XP_047287208            1288 aa            linear   PRI 20-MAR-2023
DEFINITION  signal-induced proliferation-associated 1-like protein 1 isoform
            X10 [Homo sapiens].
ACCESSION   XP_047287208
VERSION     XP_047287208.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431252.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1288
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1288
                     /product="signal-induced proliferation-associated 1-like
                     protein 1 isoform X10"
                     /calculated_mol_wt=142984
     Region          135..315
                     /region_name="Rap_GAP"
                     /note="Rap/ran-GAP; pfam02145"
                     /db_xref="CDD:426620"
     Region          459..529
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(469..472,474,516..517,520..521)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          989..1233
                     /region_name="SPAR_C"
                     /note="C-terminal domain of SPAR protein; pfam11881"
                     /db_xref="CDD:432158"
     CDS             1..1288
                     /gene="SIPA1L1"
                     /gene_synonym="E6TP1; SPAR1"
                     /coded_by="XM_047431252.1:235..4101"
                     /db_xref="GeneID:26037"
                     /db_xref="HGNC:HGNC:20284"
                     /db_xref="MIM:617504"
ORIGIN      
        1 maqeykhwny fgadenlgpv avsirrekpd emkengspyn yriifrtsel mtlrgsvled
       61 aipstakhst arglplkevl ehvvpelnvq clrlafntpk vteqlmklde qglnyqqkvg
      121 imyckagqst eeemynnesa gpafeeflql lgervrlkgf ekyraqldtk tdstgthsly
      181 ttykdyeimf hvstmlpytp nnkqqllrkr higndivtiv fqepgaqpfs pknirshfqh
      241 vfvivrvhnp csdsvcysva vtrsrdvpsf gppipkgvtf pksnvfrdfl lakvinaena
      301 ahksekfram atrtrqeylk dlaeknvtnt pidpsgkfpf islaskkkek skpypgaels
      361 smgaivwavr aedynkamel dcllgisnef ivlieqetks vvfncscrdv igwtstdtsl
      421 kifyergecv svgsfiniee ikeivkrlqf vskgcesvem tlrrnglgql gfhvnyegiv
      481 advepygyaw qaglrqgsrl veickvavat lsheqmidll rtsvtvkvvi ipphddctpr
      541 rscsetyrmp vmeykmnegv syefkfpfrn nnkwqrnask gphspqvpsq vqspmtsrln
      601 agkgdgkmpp peraaniprs issdgrpler rlspgsdiyv tvssmalars qcrnspsnls
      661 sssdtgsvgg tyrqksmpeg fgvsrrspas idrqntqsdi ggsgkstpsw qrsedsiadq
      721 meptchlpav skvlpafres psgrlmrqdp vvhlspnkqg hsdshysshs ssntlssnas
      781 sahsdekwyd gdrteselns ynylqgtsad sgidttsygp shgstaslga atssprsgpg
      841 kekvaplwhs ssevismadr tleteshgld rktesslsld ihsksqagst pltrenstfs
      901 indaashtst mssrhsaspv vftsarsspk eelhpaapsq lapsfsssss sssgprsfyp
      961 rqgatskyli gwkkpegtin svgfmdtrkr hqsdgneiah trlrastrdl raspkptsks
     1021 tieedlkkli dlesptpesq ksfkfhalss pqspfpstpt srralhrtls desiynsqre
     1081 hfftsrasll dqalpndvlf sstypslpks lplrrpsytl gmkslhgefs asdssltdiq
     1141 etrrqpmpdp glmplpdtaa dldwsnlvda akayevqras ffaasdenhr plsaasnsdq
     1201 ledqalaqmk pysskdsspt laskvdqleg mlkmlredlk kekedkahlq aevqhlredn
     1261 lrlqeesqna sdklkkftew vfntidms
//
LOCUS       XP_047289425             793 aa            linear   PRI 20-MAR-2023
DEFINITION  cadherin-5 isoform X1 [Homo sapiens].
ACCESSION   XP_047289425
VERSION     XP_047289425.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433469.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..793
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..793
                     /product="cadherin-5 isoform X1"
                     /calculated_mol_wt=88315
     Region          79..149
                     /region_name="CA"
                     /note="Cadherin repeats; smart00112"
                     /db_xref="CDD:214520"
     Region          156..254
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(162..163,216,218,250,252..253)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          272..373
                     /region_name="Cadherin"
                     /note="Cadherin domain; pfam00028"
                     /db_xref="CDD:394985"
     Region          386..484
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(392..393,443,445,480,482..483)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          491..585
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Region          635..784
                     /region_name="Cadherin_C"
                     /note="Cadherin cytoplasmic region; pfam01049"
                     /db_xref="CDD:426014"
     CDS             1..793
                     /gene="CDH5"
                     /gene_synonym="7B4; CD144"
                     /coded_by="XM_047433469.1:161..2542"
                     /db_xref="GeneID:1003"
                     /db_xref="HGNC:HGNC:1764"
                     /db_xref="MIM:601120"
ORIGIN      
        1 mqrlmmllat sgaclgllav aavaaaganp aqrdthsllp thrrqkrdwi wnqmhideek
       61 ntslphhvgk ikssvsrkna kyllkgeyvg kvfrvdaetg dvfaierldr eniseyhlta
      121 vivdkdtgen letpssftik vhdvndnwpv fthrlfnasv pessavgtsv isvtavdadd
      181 ptvgdhasvm yqilkgkeyf aidnsgriit itksldrekq aryeivvear daqglrgdsg
      241 tatvlvtlqd indnfpfftq tlwgalfasa kytfvvpedt rvgtsvgslf vedpdepqnr
      301 mtkysilrgd yqdaftietn pahnegiikp mkpldyeyiq qysfiveatd ptidlrymsp
      361 pagnraqvii nitdvdeppi fqqpfyhfql kenqkkplig tvlamdpdaa rhsigysirr
      421 tsdkgqffrv tkkgdiynek eldrevypwy nltveakeld stgtptgkes ivqvhievld
      481 endnapefak pyqpkvcena vhgqlvlqis aidkditprn vkfkfilnte nnftltdnhd
      541 ntanitvkyg qfdrehtkvh flpvvisdng mpsrtgtstl tvavckcneq geftfcedma
      601 aqvgvsiqav vaillcilti tvitlliflr rrlrkqarah gksvpeiheq lvtydeeggg
      661 emdttsydvs vlnsvrrgga kpprpaldar pslyaqvqkp prhapgahgg pgemaamiev
      721 kkdeadhdgd gppydtlhiy gyegsesiae slsslgtdss dsdvdydfln dwgprfkmla
      781 elygsdpree lly
//
LOCUS       XP_006721079             543 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_006721079
VERSION     XP_006721079.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006721016.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..543
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..543
                     /product="acyl-coenzyme A synthetase ACSM1, mitochondrial
                     isoform X1"
                     /calculated_mol_wt=61388
     Region          45..540
                     /region_name="AFD_class_I"
                     /note="Adenylate forming domain, Class I superfamily;
                     cl17068"
                     /db_xref="CDD:450147"
     Site            order(223,226..231,233..234)
                     /site_type="other"
                     /note="acyl-activating enzyme (AAE) consensus motif"
                     /db_xref="CDD:341228"
     Site            order(226,343..344,365..370,418,430,433,444,529)
                     /site_type="other"
                     /note="AMP binding site [chemical binding]"
                     /db_xref="CDD:341228"
     Site            order(226,267..268,317,319..320,323,343..344,365..370,418,
                     430,433,441..444,510)
                     /site_type="active"
                     /db_xref="CDD:341228"
     Site            order(267,319..320,323,343,441..443,504,510)
                     /site_type="other"
                     /note="CoA binding site [chemical binding]"
                     /db_xref="CDD:341228"
     CDS             1..543
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /coded_by="XM_006721016.4:69..1700"
                     /db_xref="GeneID:116285"
                     /db_xref="HGNC:HGNC:18049"
                     /db_xref="MIM:614357"
ORIGIN      
        1 mqwlmrfrtl wgihksfhni hpapsqlrcr slsefgaprw ndyevpeefn fasyvldywa
       61 qkekegkrgp npafwwvngq gdevkwsfre mgdltrrvan vftqtcglqq gdhlalmlpr
      121 vpewwlvavg cmrtgiifip atillkakdi lyrlqlskak givtidalas evdsiasqcp
      181 slktkllvsd hsregwldfr slvksaspeh tcvksktldp mvifftsgtt gfpkmakhsh
      241 glalqpsfpg srklrslkts dvswclsdsg wivatiwtlv epwtagctvf ihhlpqfdtk
      301 viiqtllkyp inhfwgvssi yrmilqqdft sirfpalehc ytggevvlpk dqeewkrrtg
      361 lllyenygqs etglicatyw gmkikpgfmg katppydvqg dpektakvec gdfyntgdrg
      421 kmdeegyicf lgrsddiina sgyrigpaev esalvehpav aesavvgspd pirgevvkaf
      481 ivltpqflsh dkdqltkelq qhvksvtapy kyprkvefvs elpktitgki erkelrkket
      541 gqm
//
LOCUS       XP_011521514             412 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 821 isoform X2 [Homo sapiens].
ACCESSION   XP_011521514
VERSION     XP_011521514.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523212.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..412
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..412
                     /product="zinc finger protein 821 isoform X2"
                     /calculated_mol_wt=47182
     Region          120..140
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(125,127,129,131..132,135..136,139,157,159,163..164,
                     167..168,171,185,187,189,191..192)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          152..172
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <261..>358
                     /region_name="DUF5401"
                     /note="Family of unknown function (DUF5401); pfam17380"
                     /db_xref="CDD:375164"
     CDS             1..412
                     /gene="ZNF821"
                     /coded_by="XM_011523212.4:50..1288"
                     /db_xref="GeneID:55565"
                     /db_xref="HGNC:HGNC:28043"
ORIGIN      
        1 mrrrgyrslg fsrvcfapwe lhqswrseke lclicryarr lpescflchf lwrpvfaicg
       61 ffillvsilq ggsnissret gkdqsscire tcpvgnrqiq ikftvtgnln sdpllelcqc
      121 plcqldcgsr eqliahvyqh taavvsaksy mcpvcgrals spgslgrhll ihsedqrsnc
      181 avcgarftsh atfnseklpe vlnmeslptv hnegpssaeg kdiafsppvy pagillvcnn
      241 caayrkllea qtpsvrkwal rrqneplevr lqrlererta kksrrdnetp eerevrrmrd
      301 reakrlqrmq etdeqrarrl qrdreamrlk ranetpekrq arlirereak rlkrrlekmd
      361 mmlraqfgqd psamaalaae mnffqlpvsg veldsqllgk mafeeqnsss lh
//
LOCUS       XP_047292954            1016 aa            linear   PRI 20-MAR-2023
DEFINITION  mitogen-activated protein kinase kinase kinase 14 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047292954
VERSION     XP_047292954.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436998.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1016
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1016
                     /product="mitogen-activated protein kinase kinase kinase
                     14 isoform X1"
                     /calculated_mol_wt=110681
     Region          393..660
                     /region_name="STKc_NIK"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     NF-kappaB Inducing Kinase (NIK); cd13991"
                     /db_xref="CDD:270893"
     Site            order(406..410,414,427,429,453,469..472,476,478..479,515,
                     517,519..520,522,534,537,558..561)
                     /site_type="active"
                     /db_xref="CDD:270893"
     Site            order(406..410,414,427,429,453,469..472,476,479,515,517,
                     519..520,522,534)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270893"
     Site            order(410,476,478,515,517,519,537,558..561)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270893"
     Site            533..561
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270893"
     CDS             1..1016
                     /gene="MAP3K14"
                     /gene_synonym="FTDCR1B; HS; HSNIK; NIK"
                     /coded_by="XM_047436998.1:235..3285"
                     /db_xref="GeneID:9020"
                     /db_xref="HGNC:HGNC:6853"
                     /db_xref="MIM:604655"
ORIGIN      
        1 mavmemacpg apgsavgqqk elpkakektp plgkkqssvy kleavekspv fcgkweilnd
       61 vitkgtakeg seagpaaisi iaqaecensq efsptfseri fiagskqysq sesldqipnn
      121 vahategkma rvcwkgkrrs karkkrkkks skslahagva lakplprtpe qesctipvqe
      181 desplgapyv rntpqftkpl kepglgqlcf kqlgeglrpa lprselhkli splqclnhvw
      241 klhhpqdggp lplpthpfpy srlphpfpfh plqpwkphpl esflgklacv dsqkplpdph
      301 lsklacvdsp kplpgphlep sclsrgahek fsveeylvha lqgsvssgqa hsltslaktw
      361 aargsrsrep spktednegv llteklkpvd yeyreevhwa thqlrlgrgs fgevhrmedk
      421 qtgfqcavkk vrlevfraee lmacagltsp rivplygavr egpwvnifme lleggslgql
      481 vkeqgclped ralyylgqal egleylhsrr ilhgdvkadn vllssdgsha alcdfghavc
      541 lqpdglgksl ltgdyipgte thmapevvlg rscdakvdvw ssccmmlhml ngchpwtqff
      601 rgplclkias epppvreipp scapltaqai qeglrkepih rvsaaelggk vnralqqvgg
      661 lkspwrgeyk eprhpppnqa nyhqtlhaqp relsprapgp rpaeettgra pklqpplppe
      721 ppepnksppl tlskeesgmw eplplsslep aparnpsspe rkatvpeqel qqleigtgsr
      781 gcsgalstgp gppaeagvsl ylrcglsssp fpsssastdc agrtpentas llpvfhshlp
      841 lfpaelflns lsqpfsleeq eqilsclsid slslsddsek npskasqssr dtlssgvhsw
      901 ssqaearsss wnmvlargrp tdtpsyfngv kvqiqslnge hlhirefhrv kvgdiatgis
      961 sqipaaafsl vtkdgqpvry dmevpdsgid lqctlapdgs fawswrvkhg qlenrp
//
LOCUS       XP_011508801             604 aa            linear   PRI 20-MAR-2023
DEFINITION  AT-rich interactive domain-containing protein 5A isoform X2 [Homo
            sapiens].
ACCESSION   XP_011508801
VERSION     XP_011508801.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011510499.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..604
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..604
                     /product="AT-rich interactive domain-containing protein 5A
                     isoform X2"
                     /calculated_mol_wt=65222
     Region          71..153
                     /region_name="ARID_ARID5A"
                     /note="ARID/BRIGHT DNA binding domain of AT-rich
                     interactive domain-containing protein 5A (ARID5A) and
                     similar proteins; cd16884"
                     /db_xref="CDD:350648"
     Site            order(88..94,119,121..122,125,136,138..140,142)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:350648"
     CDS             1..604
                     /gene="ARID5A"
                     /gene_synonym="MRF-1; MRF1; RP11-363D14"
                     /coded_by="XM_011510499.3:3893..5707"
                     /db_xref="GeneID:10865"
                     /db_xref="HGNC:HGNC:17361"
                     /db_xref="MIM:611583"
ORIGIN      
        1 mvlkrkmqyc kaapvkgnrk qstegdaldp paspkpagkq ngiqnpisle dspeaggere
       61 eeqereeeqa flvslykfmk erhtpiervp hlgfkqinlw kiykaveklg ayelvtgrrl
      121 wknvydelgg spgstsaatc trrhyerlvl pyvrhlkged dkplptskpr kqykmakenr
      181 gddgaterpk kakeerrmdq mmpgktkada adpaplpsqe pprnsteqqg lasgssvsfv
      241 gasgcpeayk rllssfyckg thgimsplak kkllaqvskv ealqcqeegc rhgaepqasp
      301 avhlpespqs pkgltensrh rltpqeglqa pggslreeaq agpcpaapif kgcfythpte
      361 vlkpvsqhpr dffsrlkdgv llgppgkegl svkepqlvwg gdanrpsafh kggsrkgily
      421 pkpkacwvsp makvpaespt lpptfpsspg lgskrsleee gaahsgkrlr avspflkead
      481 akkcgakpag sglvscllgp algpvppeay rgtmlhcpln ftgtpgplkg qaalpfsplv
      541 ipafpahfla tagpspmaag lmhfpptsfd salrhrlcpa ssawhappvt tyaaphffhl
      601 ntkl
//
LOCUS       XP_016859413            2206 aa            linear   PRI 20-MAR-2023
DEFINITION  bromodomain adjacent to zinc finger domain protein 2B isoform X8
            [Homo sapiens].
ACCESSION   XP_016859413
VERSION     XP_016859413.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017003924.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2206
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..2206
                     /product="bromodomain adjacent to zinc finger domain
                     protein 2B isoform X8"
                     /calculated_mol_wt=244200
     Region          742..811
                     /region_name="HAT_MBD"
                     /note="Methyl-CpG binding domains (MBD) present in
                     putative chromatin remodelling factor such as BAZ2A; BAZ2A
                     contains a MBD, DDT, PHD-type zinc finger and Bromo domain
                     suggesting that BAZ2A might be associated with histone
                     acetyltransferase (HAT) activity. The...; cd01397"
                     /db_xref="CDD:238691"
     Site            order(754,756,758,765,767,776,779,783)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238691"
     Region          861..>1036
                     /region_name="TPH"
                     /note="Trichohyalin-plectin-homology domain; pfam13868"
                     /db_xref="CDD:433539"
     Region          1064..1126
                     /region_name="DDT"
                     /note="domain in different transcription and chromosome
                     remodeling factors; smart00571"
                     /db_xref="CDD:214726"
     Region          1347..>1379
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          <1687..1726
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          1942..1990
                     /region_name="PHD_BAZ2B"
                     /note="PHD finger found in bromodomain adjacent to zinc
                     finger domain protein 2B (BAZ2B); cd15630"
                     /db_xref="CDD:277100"
     Site            order(1950,1956..1960,1978..1981)
                     /site_type="other"
                     /note="H3 histone binding site [polypeptide binding]"
                     /db_xref="CDD:277100"
     Region          2075..2171
                     /region_name="Bromo_BAZ2A_B_like"
                     /note="Bromodomain, BAZ2A/BAZ2B_like subfamily. Bromo
                     adjacent to zinc finger 2A (BAZ2A) and 2B (BAZ2B) were
                     identified as a novel human bromodomain gene by cDNA
                     library screening. BAZ2A is also known as Tip5
                     (Transcription termination factor I-interacting...;
                     cd05503"
                     /db_xref="CDD:99935"
     Site            order(2099,2104,2107,2146,2150,2156)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99935"
     CDS             1..2206
                     /gene="BAZ2B"
                     /gene_synonym="WALp4"
                     /coded_by="XM_017003924.1:3..6623"
                     /db_xref="GeneID:29994"
                     /db_xref="HGNC:HGNC:963"
                     /db_xref="MIM:605683"
ORIGIN      
        1 mesgerlpss aassttptss stpsvasvvs kgglstgvas lsstinpcgh lfrtagdqpf
       61 nlstvssafp mvshpvfglh sassghsefg glgtlgtpta laahpqlasf pewwrttdah
      121 trtgatffpp llgipplfap paqnhdsssf hsrtsgksnr ngpekgvngs ingsntssvi
      181 gintsvlstt asssmgqtks tssgggnrkc nqeqsknqpl darvdkikdk kprkkamess
      241 snsdsdsgts sdtssegiss sdsddleede eeedqsiees edddsdsese aqhksnnqvl
      301 lhgisdpkad gqkatekaqe krihqplpla sesqthsfqs qqkqpqvlsq qlpfifqssq
      361 akeesvnkht sviqstglvs nvkplslvnq akketymkli vpspdvlkag nkntseessl
      421 ltselrskre qykqafpsql kkqesskslk kviaalsnpk atssspahpk qtlennhpnp
      481 fltnallgnh qpngviqsvi qeaplalttk tkmqskinen iaaasstpfs spvnlstsgr
      541 rtpgnqtpvm psaspilhsq gkekavsnnv npvktqhhsh pakslveqfr gtdsdipssk
      601 dsedsnedee eddeeedeed deddesddsq sesdsnsesd tegseeeddd dkdqdesdsd
      661 tegektsmkl nkttssvksp smsltghstp rnlhiakapg sapaalcses qspaflgtss
      721 stltssphsg tskrrrvtde relripleyg wqretrirnf ggrlqgevay yapcgkklrq
      781 ypevikgmqw cllkeedvip riramegrrg rppnpdrqra reesrmrrrk grppnvgnae
      841 fldnadakll rklqaqeiar qaaqikllrk lqkqeqarva keakkqqaim aaeekrkqke
      901 qikimkqqek ikriqqirme kelraqqile akkkkkeeaa naklleaekr ikekemrrqq
      961 avllkhqele rhrldmvwer errrqhmmlm kamearkkae ekerlkqekr dekrlnkerk
     1021 leqrrlelem akelkkpned mcladqkplp elpripglvl sgstfsdclm vvqflrnfgk
     1081 vlgfdvnidv pnlsvlqegl lnigdsmgev qdllvrllsa avcdpglitg ykaktalgeh
     1141 llnvgvnrdn vseilqifme ahcgqtelte slktkafqah tpaqkasvla flinelacsk
     1201 svvseidkni dymsnlrrdk wvvegklrkl riihakktgk rdtsggidlg eeqhplgtpt
     1261 pgrkrrrkgg dsdydddddd dsddqgdedd edeedkedkk gkktdicede degdqaasve
     1321 elekqiekls kqqsqyrrkl fdashslrsv mfgqdryrrr ywilpqcggi fvegmesgeg
     1381 leeiakerek lkkaesvqik eemfetsgds lncsntdhce qkedlkekdn tnlflqkpgs
     1441 fsklskllev akmppesevm tpkpnagang ctlsyqnsgk hslgsvqsta tqsnvekads
     1501 nnlfntgssg pgkfysplpn dqllktltek nrqwfsllpr tpcddtslth admstaslvt
     1561 pqsqppsksp sptpaplgss aqnpvglnpf alsplqvkgg vsmmglqfcg wptgvvtsni
     1621 pftssvpslg sglglsegng nsfltsnvas sksespvpqn ekatsaqpaa vevakpvdfp
     1681 spkpipeemq fgwwriidpe dlkallkvlh lrgirekalq kqiqkhldyi tqaclknkdv
     1741 aiielnenee nqvtrdiven wsveeqamem dlsvlqqved lerrvasasl qvkgwmcpep
     1801 aseredlvyf ehksftklck ehdgeftged essahalerk sdnpldiavt rladlernie
     1861 rrylksplst tiqikldnvg tvtvpapaps vsgdgdgiee diapglrvwr ralsearsaa
     1921 qvalciqqlq ksiaweksim kvycqicrkg dneellllcd gcdkgchtyc hrpkittipd
     1981 gdwfcpacia kasgqtlkik klhvkgkktn eskkgkkvtl tgdtededsa stssslkrgn
     2041 kdlkkrkmee ntsinlskqe sftsvkkpkr ddskdlalcs miltemethe dawpfllpvn
     2101 lklvpgykkv ikkpmdfsti reklssgqyp nletfaldvr lvfdncetfn eddsdigrag
     2161 hnmrkyfekk wtdtfkplcy edalaaqpyg aansyhqlts pvpeas
//
LOCUS       XP_005247023             754 aa            linear   PRI 20-MAR-2023
DEFINITION  peptidyl-prolyl cis-trans isomerase G isoform X1 [Homo sapiens].
ACCESSION   XP_005247023
VERSION     XP_005247023.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005246966.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..754
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..754
                     /product="peptidyl-prolyl cis-trans isomerase G isoform
                     X1"
                     /calculated_mol_wt=88486
     Region          8..175
                     /region_name="cyclophilin"
                     /note="cyclophilin-type peptidylprolyl cis- trans
                     isomerases. This family contains eukaryotic, bacterial and
                     archeal proteins which exhibit a peptidylprolyl cis- trans
                     isomerases activity (PPIase, Rotamase) and in addition
                     bind the immunosuppressive drug...; cl00197"
                     /db_xref="CDD:444740"
     Site            order(67,69,72..73,75,113..114,123,125,133..134,138)
                     /site_type="active"
                     /db_xref="CDD:238194"
     Region          <392..752
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     CDS             1..754
                     /gene="PPIG"
                     /gene_synonym="CARS-Cyp; CYP; SCAF10; SRCyp"
                     /coded_by="XM_005246966.3:170..2434"
                     /db_xref="GeneID:9360"
                     /db_xref="HGNC:HGNC:14650"
                     /db_xref="MIM:606093"
ORIGIN      
        1 mgikvqrprc ffdiainnqp agrvvfelfs dvcpktcenf rclctgekgt gkstqkplhy
       61 ksclfhrvvk dfmvqggdfs egngrggesi yggffedesf avkhnkefll smanrgkdtn
      121 gsqffittkp tphldghhvv fgqvisgqev vreienqktd aaskpfaevr ilscgelipk
      181 skvkkeekkr hkssssssss ssdsdsssds qsssdssdse sateekskkr kkkhrknsrk
      241 hkkekkkrkk skksassese aenleaqpqs tvrpeeippi penrflmrks ppkadekerk
      301 nrerererec nppnsqpasy qrrllvtrsg rkikgrgprr yrtpsrsrsr drfrrsetpp
      361 hwrqemqraq rmrvssgerw ikgdkselne ikenqrspvr vkerkitdhr nvsespnrkn
      421 ekekkvkdhk snskerdirr nsekddkykn kvkkraksks rskskeksks kerdskhnrn
      481 eekrmrsrsk grdhenvkek ekqsdskgkd qersrskeks kqlesksneh dhskskekdr
      541 raqsrsrecd itkgkhsyns rtrersrsrd rsrrvrsrth drdrsrskey hryreqeyrr
      601 rgrsrsrerr tppgrsrskd rrrrrrdsrs sereesqsrn kdkyrnqesk sshrkenses
      661 ekrmysksrd hnssnnsrek kadrdqspfs kikqssqdne lkssmlknke dekirssvek
      721 enqkskgqen dhvheknkkf dhesspgtde dksg
//
LOCUS       XP_016860879            1226 aa            linear   PRI 20-MAR-2023
DEFINITION  tubulin monoglutamylase TTLL4 isoform X1 [Homo sapiens].
ACCESSION   XP_016860879
VERSION     XP_016860879.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017005390.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1226
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1226
                     /product="tubulin monoglutamylase TTLL4 isoform X1"
                     /calculated_mol_wt=135786
     Region          654..946
                     /region_name="TTL"
                     /note="Tubulin-tyrosine ligase family; pfam03133"
                     /db_xref="CDD:397308"
     CDS             1..1226
                     /gene="TTLL4"
                     /coded_by="XM_017005390.2:377..4057"
                     /db_xref="GeneID:9654"
                     /db_xref="HGNC:HGNC:28976"
                     /db_xref="MIM:618738"
ORIGIN      
        1 masagtqhys iglrqknsfk qsgpsgtvpa tppekpsegr vwpqahqqvk piwklekkqv
       61 etlsaglgpg llgvppqpay ffcpstlcss gttaviaghs sscylhslpd lfnstllyrr
      121 ssyrqkpyqq lesfclrssp sekspfslpq kslpvsltan katssmvfsm aqpmassste
      181 pylclaaage npsgkslasa isgkipspls ssykpmlnnn sfmwpnstpv pllqttqglk
      241 pvsppkiqpv swhhsggtgd capqpvdhkv pksigtvpad asahialsta sshdtsttsv
      301 asswynrnnl amraeplsca lddssdsqdp tkeirfteav rkltargfek mprqgcqleq
      361 ssflnpsfqw nvlnrsrrwk ppavnqqfpq edagsvrrvl pgasdtlgld ntvfctkris
      421 ihllashasg lnhnpacesv idssafgegk apgppfpqtl gianvatrls siqlgqseke
      481 rpeearelds sdrdissatd lqpdqaeted teeelvdgle dccsrdenee eegdsecssl
      541 savspsesva misrscmeil tkplsnhekv vrpaliyslf pnvpptiyfg trderveklp
      601 weqrkllrwk mstvtpnivk qtigrshfki skrnddwlgc wghhmkspsf rsirehqkln
      661 hfpgsfqigr kdrlwrnlsr mqsrfgkkef sffpqsfilp qdakllrkaw esssrqkwiv
      721 kppasargig iqvihkwsql pkrrpllvqr ylhkpylisg skfdlriyvy vtsydplriy
      781 lfsdglvrfa sckyspsmks lgnkfmhltn ysvnkknaey qanademacq ghkwalkalw
      841 nylsqkgvns daiwekikdv vvktiissep yvtsllkmyv rrpyschelf gfdimldenl
      901 kpwvlevnis pslhssspld isikgqmird llnlagfvlp naediissps scsssttslp
      961 tspgdkcrma pehvtaqkmk kayyltqkip dqdfyasvld vltpddvril vemedefsrr
     1021 gqferifpsh issrylrffe qpryfniltt qweqkyhgnk lkgvdllrsw cykgfhmgvv
     1081 sdsapvvsaa svedssfsgp sllclmsaag vglwslptsl ltiskddvil nafsksetsk
     1141 lgkqsscevs lllsedgttp kskktqagls pypqkpsssk dsedtskeps lstqtlpvik
     1201 csgqtsrlsa sstfqsisds llavsp
//
LOCUS       XP_016884300             100 aa            linear   PRI 20-MAR-2023
DEFINITION  NHP2-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_016884300
VERSION     XP_016884300.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017028811.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..100
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..100
                     /product="NHP2-like protein 1 isoform X1"
                     /calculated_mol_wt=11163
     CDS             1..100
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /coded_by="XM_017028811.2:32..334"
                     /db_xref="GeneID:4809"
                     /db_xref="HGNC:HGNC:7819"
                     /db_xref="MIM:601304"
ORIGIN      
        1 mllvqgqfpr qcprrgrgpl arvaspslpa arghfrccfc effrctrvll krqlrsprsa
       61 epaepqpwrr spmglrlvpa ashtrqgprg afgiwglwgt
//
LOCUS       XP_047297364            1983 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylinositol 4-kinase alpha isoform X1 [Homo sapiens].
ACCESSION   XP_047297364
VERSION     XP_047297364.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441408.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1983
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..1983
                     /product="phosphatidylinositol 4-kinase alpha isoform X1"
                     /calculated_mol_wt=222214
     Region          406..1542
                     /region_name="PI4K_N"
                     /note="PI4-kinase N-terminal region; pfam19274"
                     /db_xref="CDD:437106"
     Region          1575..1750
                     /region_name="PI4Ka"
                     /note="Phosphoinositide 4-kinase(PI4K), accessory domain
                     (PIK domain); PIK domain is conserved in PI3 and
                     PI4-kinases. Its role is unclear but it has been suggested
                     to be involved in substrate presentation. PI4K
                     phosphorylates hydroxylgroup at position 4 on the...;
                     cd00871"
                     /db_xref="CDD:238443"
     Region          1811..>1972
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..1983
                     /gene="PI4KA"
                     /gene_synonym="GIDID2; PI4K-ALPHA; pi4K230; PIK4CA;
                     PMGYCHA; SPG84"
                     /coded_by="XM_047441408.1:3..5954"
                     /db_xref="GeneID:5297"
                     /db_xref="HGNC:HGNC:8983"
                     /db_xref="MIM:600286"
ORIGIN      
        1 mhlrlrpevg rsrarsgepa gsaaarevma aaparggggg ggggggcsgs gssasrgfyf
       61 ntvlslarsl avqrpaslek vqkllcmcpv dfhgifqlde rrrdavialg ifliesdlqh
      121 kdcvvpyllr llkglpkvyw veestarkgr galpvaesfs fclvtllsdv ayrdpslrde
      181 ilevllqvlh vllgmcqale iqdkeylcky aipcligisr afgrysnmee sllsklfpki
      241 pphslrvlee legvrrrsfn dfrsilpsnl ltvcqegtlk rktssvssis qvspergmpp
      301 psspggsafh yfeasclpdg talepeyyfs tisssfsvsp lfngvtykef niplemlrel
      361 lnlvkkivee avlksldaiv asvmeanpsa dlyytsfsdp lyltmfkmlr dtlyymkdlp
      421 tsfvkeihdf vleqfntsqg elqkilhdad rihnelsplk lrcqanaacv dlmvwavkde
      481 qgaenlcikl seklqsktss kviiahlpll icclqglgrl cerfpvvvhs vtpslrdflv
      541 ipspvlvkly kyhsqyhtva gndikisvtn ehsestlnvm sgkksqpsmy eqlrdiaidn
      601 icrclkaglt vdpviveafl aslsnrlyis qesdkdahli pdhtiralgh iavalrdtpk
      661 vmepilqilq qkfcqppspl dvliidqlgc lvitgnqyiy qevwnlfqqi svkassvvys
      721 atkdykdhgy rhcslavina laniaaniqd ehlvdellmn llelfvqlgl egkraseras
      781 ekgpalkass sagnlgvlip viavltrrlp pikeakprlq klfrdfwlys vlmgfavegs
      841 glwpeewyeg vceiatkspl ltfpskeplr svlqynsamk ndtvtpaels elrstiinll
      901 dpppevsali nkldfamsty llsvyrleym rvlrstdpdr fqvmfcyfed kaiqkdksgm
      961 mqcviavadk vfdaflnmma dkaktkenee elerhaqfll vnfnhihkri rrvadkylsg
     1021 lvdkfphllw sgtvlktmld ilqtlslsls adihkdqpyy dipdapyrit vpdtyeares
     1081 ivkdfaarcg milqeamkwa ptvtkshlqe ylnkhqnwvs glsqhtglam atesilhfag
     1141 ynkqnttlga tqlserpacv kkdysnfmas lnlrnryage vygmirfsgt tgqmsdlnkm
     1201 mvqdlhsald rshpqhytqa mfkltamlis skdcdpqllh hlcwgplrmf nehgmetala
     1261 cwewllagkd gvevpfmrem agawhmtveq kfglfsaeik eadplaasea sqpkpcppev
     1321 tphyiwidfl vqrfeiakyc ssdqveifss llqrsmslni ggakgsmnrh vaaigprfkl
     1381 ltlglsllha dvvpnatirn vlrekiysta fdyfscppkf ptqgekrlre disimikfwt
     1441 amfsdkkylt asqlvppdnq dtrsnlditv gsrqqatqgw intyplssgm stiskksgms
     1501 kktnrgsqlh kyymkrrtll lsllateier litwynplsa peleldqage nsvanwrsky
     1561 islsekqwkd nvnlawsisp ylavqlparf knteaignev trlvrldpga vsdvpeaikf
     1621 lvtwhtidad apelshvlcw aptdpptgls yfssmypphp ltaqygvkvl rsfppdailf
     1681 yipqivqalr ydkmgyvrey ilwaasksql lahqfiwnmk tniyldeegh qkdpdigdll
     1741 dqlveeitgs lsgpakdfyq refdffnkit nvsaiikpyp kgderkkacl salsevkvqp
     1801 gcylpsnpea ivldidyksg tpmqsaakap ylakfkvkrc gvselekegl rcrsdsedec
     1861 stqeadgqki swqaaifkvg ddcrqdmlal qiidlfknif qlvgldlfvf pyrvvatapg
     1921 cgviecipdc tsrdqlgrqt dfgmydyftr qygdestlaf qqtlasclka rraaisagnp
     1981 tss
//
LOCUS       XP_047303698            1024 aa            linear   PRI 20-MAR-2023
DEFINITION  sterol regulatory element-binding protein cleavage-activating
            protein isoform X4 [Homo sapiens].
ACCESSION   XP_047303698
VERSION     XP_047303698.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447742.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1024
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1024
                     /product="sterol regulatory element-binding protein
                     cleavage-activating protein isoform X4"
                     /calculated_mol_wt=110570
     Region          53..197
                     /region_name="Sterol-sensing"
                     /note="Sterol-sensing domain of SREBP cleavage-activation;
                     pfam12349"
                     /db_xref="CDD:432497"
     Region          516..547
                     /region_name="WD40"
                     /note="WD40 repeats; smart00320"
                     /db_xref="CDD:197651"
     Region          704..750
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          756..792
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          823..>980
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          827..861
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          868..902
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          908..942
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..1024
                     /gene="SCAP"
                     /coded_by="XM_047447742.1:94..3168"
                     /db_xref="GeneID:22937"
                     /db_xref="HGNC:HGNC:30634"
                     /db_xref="MIM:601510"
ORIGIN      
        1 mllhpspncs lraeslvhvh fkeeigvael iplvttyiil fayiyfstrk idmvkskwgl
       61 alaavvtvls sllmsvglct lfgltptlng geifpylvvv iglenvlvlt ksvvstpvdl
      121 evklriaqgl sseswsimkn matelgiili gyftlvpaiq efclfavvgl vsdfflqmlf
      181 fttvlsidir rmeladlnkr lppeaclpsa kpvgqptrye rqlavrpstp htitlqpssf
      241 rnlrlpkrlr vvyflartrl aqrlimagtv vwigilvytd paglrnylaa qvteqsplge
      301 galapmpvps gmlppshpdp afsifppdap klpenqtspg esperggpae vvhdspvpev
      361 twgpedeelw rklsfrhwpt lfsyynitla kryisllpvi pvtlrlnpre alegrhpqdg
      421 rsawpppgpi paghweagpk gpggvqahgd vtlykvaalg latgivlvll llclyrvlcp
      481 rnygqlgggp grrrrgelpc ddygyappet eivplvlrgh lmdieclasd gmllvsccla
      541 ghvcvwdaqt gdcltriprp grqrrdsgvg sgleaqeswe rlsdggkagp eepgdspplr
      601 hrprgpppps lfgdqpdltc lidtnfsaqp rssqptqpep rhravcgrsr dspgydfscl
      661 vqrvyqeegl aavctpalrp pspgpvlsqa pedeggspek gspslawaps aegsiwslel
      721 qgnlivvgrs sgrlevwdai egvlccssee vssgitalvf ldkrivaarl ngsldffsle
      781 thtalsplqf rgtpgrgssp aspvysssdt vachlthtvp cahqkpital kaaagrlvtg
      841 sqdhtlrvfr ledscclftl qghsgaittv yidqtmvlas ggqdgaiclw dvltgsrvsh
      901 vfahrgdvts ltcttscvis sglddlisiw drstgikfys iqqdlgcgas lgvisdnllv
      961 tggqgcvsfw dlnygdllqt vylgknseaq parqilvldn aaivcnfgse lslvyvpsvl
     1021 ekld
//
LOCUS       XP_047304524             371 aa            linear   PRI 20-MAR-2023
DEFINITION  glycosyltransferase 8 domain-containing protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047304524
VERSION     XP_047304524.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448568.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..371
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..371
                     /product="glycosyltransferase 8 domain-containing protein
                     1 isoform X1"
                     /calculated_mol_wt=41804
     Region          66..351
                     /region_name="GT8_like_1"
                     /note="GT8_like_1 represents a subfamily of GT8 with
                     unknown function; cd06429"
                     /db_xref="CDD:133051"
     Site            order(71..74,76,154,169,171..173,198,242..244,285..286,
                     307..308,328,330..331,334)
                     /site_type="active"
                     /note="putative ligand binding site [active]"
                     /db_xref="CDD:133051"
     Site            order(171,173,328)
                     /site_type="active"
                     /note="metal binding site [active]"
                     /db_xref="CDD:133051"
     CDS             1..371
                     /gene="GLT8D1"
                     /gene_synonym="AD-017; MSTP139"
                     /coded_by="XM_047448568.1:802..1917"
                     /db_xref="GeneID:55830"
                     /db_xref="HGNC:HGNC:24870"
                     /db_xref="MIM:618399"
ORIGIN      
        1 msfrkvniii lvlavalfll vlhhnflsls sllrnevtds givgpqpidf vpnalrhavd
       61 grqeeipvvi aasedrlgga iaainsiqhn trsnvifyiv tlnntadhlr swlnsdslks
      121 irykivnfdp kllegkvked pdqgesmkpl tfarfylpil vpsakkaiym dddvivqgdi
      181 lalyntalkp ghaaafsedc dsastkvvir gagnqynyig yldykkerir klsmkastcs
      241 fnpgvfvanl tewkrqnitn qlekwmklnv eeglysrtla gsittpplli vfyqqhstid
      301 pmwnvrhlgs sagkryspqf vkaakllhwn ghlkpwgrta sytdvwekwy ipdptgkfnl
      361 irryteisni k
//
LOCUS       XP_024309438             297 aa            linear   PRI 20-MAR-2023
DEFINITION  phospholipid scramblase 2 isoform X2 [Homo sapiens].
ACCESSION   XP_024309438
VERSION     XP_024309438.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453670.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..297
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..297
                     /product="phospholipid scramblase 2 isoform X2"
                     /calculated_mol_wt=33373
     Region          86..295
                     /region_name="Scramblase"
                     /note="pfam03803"
                     /db_xref="CDD:252175"
     CDS             1..297
                     /gene="PLSCR2"
                     /coded_by="XM_024453670.2:826..1719"
                     /db_xref="GeneID:57047"
                     /db_xref="HGNC:HGNC:16494"
                     /db_xref="MIM:607610"
ORIGIN      
        1 mrswnslfcl nssrppghiv ypkhqaghtg kqadhlgsqa fypgrqhdyl vppagtagip
       61 vqnqpgrpeg vpwmpapppp lncppgleyl sqidmilihq qiellevlfs fessnmyeik
      121 nsfgqriyfa aedtnfcirn ccgrsrpftl ritdnvgrev itlerplrcn ccccpcclqe
      181 ieiqappgvp vgyvtqtwhp cltkftiknq kredvlkisg pcivcsciag vdfeitslde
      241 qivvgriskh wsgflreaft dadnfgiqfp rdldvkmkav migacflidy mffertr
//
LOCUS       XP_016865468            1058 aa            linear   PRI 20-MAR-2023
DEFINITION  SMC5-SMC6 complex localization factor protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_016865468
VERSION     XP_016865468.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009979.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1058
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..1058
                     /product="SMC5-SMC6 complex localization factor protein 1
                     isoform X1"
                     /calculated_mol_wt=120920
     Region          5..85
                     /region_name="BRCT_SLF1"
                     /note="BRCT domain of SMC5-SMC6 complex localization
                     factor protein 1 (SLF1) and similar proteins; cd17750"
                     /db_xref="CDD:349381"
     Region          127..198
                     /region_name="BRCT"
                     /note="C-terminal domain of the breast cancer suppressor
                     protein (BRCA1) and related domains; cl00038"
                     /db_xref="CDD:444666"
     Region          807..838
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(808,812..813,816..818,820..821,825,828,838,840,842,
                     846..847,850..852,854..855,859,862,871,874,876,880..881,
                     884..886,888..889,893,896)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          811..898
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          840..871
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          874..904
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..1058
                     /gene="SLF1"
                     /gene_synonym="ANKRD32; BRCTD1; BRCTx"
                     /coded_by="XM_017009979.3:89..3265"
                     /db_xref="GeneID:84250"
                     /db_xref="HGNC:HGNC:25408"
                     /db_xref="MIM:618467"
ORIGIN      
        1 medgtpkhii qmtgfkmeek ealvklllkl dctfikseky kncthliaer lcksekflaa
       61 caagkwiltk dyiihsaksg rwldettyew gykiekdsry spqmqsapkr wreelkrtga
      121 pgafhrwkvv llvrtdkrsd slirvleagk anvilpkssp sgithviasn arikaekekd
      181 nfkapfypiq ylgdflleke iqndedsqtn svwtehsnee tnkdfrkdag flemkgalre
      241 tmyrtqkemq nhedvnvgsi liqhhkkekf sgsskdlkfv kmrntfgsht yenqkeikkk
      301 dediqrsytl rrkrkkgkes nckkgvehek ikstlrrhiy nrdqkemkns ifaeyakesk
      361 amaiktdvdv veikntlrkh iyraqavryn ciridkqpvy nvevknaefp rgvlnliesl
      421 ieghffkeai eelstlqahy ippvcvlhal lenvlqdnid tfsgryfhil sallhlhppw
      481 kspamsryyl elfqcptcmk gawslvevli rsclfnesfc hqisenigsk vlhltllkff
      541 fnliesevqh lsqklydwsd sqnlkitgka mlleifwsgs etsglltkpv nmllewtiys
      601 hkekfksndv fkhelaylla gilgaaidyw iflglkmgrn vmrhmsddlg syvslscddf
      661 ssqeleific sfssswlqmf vaeavfkklc lqssgsvsse plslqkmvys ylpalgktgv
      721 lgsgkiqvsk kigqrpcfds qrtllmlngt kqkqveglpe lldlnlakcs sslkklkkks
      781 egelscsken cpsvvkkmnf hktnlkgeta lhracinnqv eklilllslp gidinvkdna
      841 gwtplheacn ygntvcvqei lqrcpevdll tqvdgvtplh dalsnghvei gklllqhggp
      901 vllqqrnakg elpldyvvsp qikeelfait kiedtvenfh aqaekhfhyq qlefgsflls
      961 rmllnfcsif dlssefilas kglthlnell mackshkett svhtdwlldl yagniktlqk
     1021 lphilkelpe nlkvcpgvht ealmitlemm crsvmefs
//
LOCUS       XP_047274990            1220 aa            linear   PRI 20-MAR-2023
DEFINITION  transcriptional-regulating factor 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047274990
VERSION     XP_047274990.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419034.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1220
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1220
                     /product="transcriptional-regulating factor 1 isoform X2"
                     /calculated_mol_wt=134179
     Region          514..534
                     /region_name="zf-C2H2_6"
                     /note="C2H2-type zinc finger; pfam13912"
                     /db_xref="CDD:433576"
     Region          801..855
                     /region_name="ELM2"
                     /note="ELM2 domain; pfam01448"
                     /db_xref="CDD:426267"
     Region          909..953
                     /region_name="SANT"
                     /note="'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains.
                     Tandem copies of the domain bind telomeric DNA tandem
                     repeatsas part of the capping complex. Binding is sequence
                     dependent for repeats which contain the G/C rich motif
                     [C2-3 A (CA)1-6]. The domain is...; cl21498"
                     /db_xref="CDD:451276"
     Site            order(910,939..940,942..943,945..947,949..951)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:212559"
     Region          1035..1057
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1042,1044,1046,1048..1049,1052..1053,1056,1088,
                     1092..1093,1096,1113,1115,1117,1119..1120,1123..1124,1127)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          1105..1128
                     /region_name="zf-C2H2_6"
                     /note="C2H2-type zinc finger; pfam13912"
                     /db_xref="CDD:433576"
     Region          1108..1128
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..1220
                     /gene="TRERF1"
                     /gene_synonym="BCAR2; dJ139D8.5; HSA277276; RAPA;
                     TReP-132; TREP132"
                     /coded_by="XM_047419034.1:615..4277"
                     /db_xref="GeneID:55809"
                     /db_xref="HGNC:HGNC:18273"
                     /db_xref="MIM:610322"
ORIGIN      
        1 mgdqqlyktn hvahgsenlf yqqpplgvhs glnhnygnav tgggmdapqa spisphfpqd
       61 trdglglpvg sknlgqmdts rqggwgshag pgnhvqlrgn lansnmmwga paqaeptdgy
      121 qytysqasei rtqkltsgvl hkldsftqvf anqnlriqvn nmaqvlhtqs avmdgapdsa
      181 lrqllsqkpm eppapaipsr yqqvpqqphp gftgglskpa lqvgqhptqg hlyydyqqpl
      241 aqvpvqggqp lqapqmlsqh mqqmqqhqyy ppqqqqqagq qrismqeiqt qpqqirpsqp
      301 qpppqqqqpq qlqlqqrqgs mqipqyyqpq pmmqhlqeqq qqqmhlqpps yhrdphqytp
      361 eqahtvqlip lgsmsqyyyq epqqpyshpl yqqshlsqhq qredsqlkty ssdrqaqaml
      421 sshgdlgppd tgmgdpassd ltrvsstlph rpllspsgih lnnmgpqhqq lspsamwpqm
      481 hlpdgraqpg spessgqpkg afgeqfdakn kltcsiclke fknlpalngh mrshggmras
      541 pnlkqeegek vlppqpqppl pppppppppp qlppeaeslt pmvmpvsvpv kllppkpssq
      601 gftnstvaap sardkpassm sddempvlvr mtlspphspq gaaprtpaei prkhqpsvpk
      661 aeeplktvqe kkkfrhrpep lfippppsyn pnpaasysga tlyqsqlrsp rvlgdhllld
      721 pthelppytp ppmlspvrqg sglfsnvlis ghgpgahpql pltpltptpr vllcrsnsid
      781 gsnvtvtpgp geqtvdvepr iniglrfqae ipelqdisal aqdthkatlv wkpwpelenh
      841 dlqqrvenll nlccssalpg ggtnsefalh slfeakgdvm valemlllrk pvrlkchpla
      901 nyhyagsdkw tslerklfnk alatyskdfi fvqkmvkskt vaqcveyyyt wkkimrlgrk
      961 hrtrlaeiid dcvtseeeee leeeeeedpe edrkstkeee sevpkspepp pvpvlapteg
     1021 pplqalgqps gsficempnc gavfssrqal ngharihggt nqvtkargai psgkqkpggt
     1081 qsgycsvkss pshsttsget dpttifpcke cgkvffkiks rnahmkthrq qeeqqrqkaq
     1141 kaafaaemaa tierttgpvg apgllpldql slikpikdvd ildddvvqql ggvmeeaevv
     1201 dtdlllddqd svllqgdael
//
LOCUS       XP_047278980            1695 aa            linear   PRI 20-MAR-2023
DEFINITION  probable helicase senataxin isoform X6 [Homo sapiens].
ACCESSION   XP_047278980
VERSION     XP_047278980.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423024.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1695
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1695
                     /product="probable helicase senataxin isoform X6"
                     /calculated_mol_wt=191263
     Region          37..>351
                     /region_name="SEN1_N"
                     /note="SEN1 N terminal; pfam12726"
                     /db_xref="CDD:432746"
     CDS             1..1695
                     /gene="SETX"
                     /gene_synonym="ALS4; AOA2; bA479K20.2; SCAN2; SCAR1; Sen1;
                     STEX"
                     /coded_by="XM_047423024.1:185..5272"
                     /db_xref="GeneID:23064"
                     /db_xref="HGNC:HGNC:445"
                     /db_xref="MIM:608465"
ORIGIN      
        1 mstccwctpg gastidflkr yasntpsgef qtadedlcyc lecvaeyhka rdelpflhev
       61 lweletlrli nhfeksmkae igdddelyiv dnngemplfd itgqdfenkl rvplleilky
      121 pylllhervn elcvealcrm eqancsfqvf dkhpgiylfl vhpnemvrrw ailtarnlgk
      181 vdrddyydlq evllclfkvi elgllespdi ytssvlekgk lillpshmyd ttnyksywlg
      241 icmlltilee qamdslllgs dkqndfmqsi lhtmereadd dsvdpfwpal hcfmvildrl
      301 gskvwgqlmd pivafqtiin nasynreirh irnssvrtkl epesylddmv tcsqivynyn
      361 pektkkdsgw rtaicpdycp nmyeemetla svlqsdigqd mrvhnstflw fipfvqslmd
      421 lkdlgvayia qvvnhlysev kevlnqtdav cdkvteffll ilvsvielhr nkkclhllwv
      481 ssqqwveavv kcaklpttaf trssekssgn cskgtamiss lslhsmpsns vqlayvqlir
      541 sllkegyqlg qqslckrfwd klnlflrgnl slgwqltsqe thelqsclkq iirnikfkap
      601 pcntfvdlts ackispasyn keeseqmgkt srkdmhclea ssptfskepm kvqdsvlika
      661 dntiegdnne qnyikdvkle dhllagsclk qssknifter aedqikistr kqksvkeiss
      721 ytpkdctsrn gpergcdrgi ivstrlltds stdalekvst snedfslkdd alaktskrkt
      781 kvqkdeicak lshvikkqhr kstlvdntin ldenltvsni esfysrkdtg vqkgdgfihn
      841 lsldpsgvld dkngeqksqn nvlpkekqlk neelvifsfh ennckiqefh vdgkelipft
      901 emtnasekks spfkdlmtvp esrdeemsns tsviysnltr eqapdispks dtltdsqidr
      961 dlhklsllaq asvitfpsds pqnssqlqrk vkedkrcfta nqnnvgdtsr gqviiisdsd
     1021 dddderilsl ekltkqdkic lerehpeqhv stvnskeekn pvkeektetl fqfeesdsqc
     1081 fefesssevf svwqdhpddn nsvqdgekkc lapianttng qgctdyvsev vkkgaegiee
     1141 htrprsisve efceievkkp krkrsekpma edpvrpsssv rnegqsdtnk rdlvgndfks
     1201 idrrtstpns riqrattvsq kkssklctct epirkvpvsk tpkkthsdak kgqnrssnyl
     1261 scrttpaivp pkkfrqcpep tstaeklglk kgprkayels qrsldyvaql rdhgktvgvv
     1321 dtrkktklis pqnlsvrnnk klltsqelqm qrqirpksqk nrrrlsdces tdvkragsht
     1381 aqnsdifvpe sdrsdynctg gtevlansnr kqlikcmpse petikakhgs patddacpln
     1441 qcdsvvlngt vptnevivst sedplgggdp tarhiemaal kegepdsssd aeednlfltq
     1501 ndpedmdlcs qmendnykli elihgkdtve veedsvsrpq leslsgtkck ykdclettkn
     1561 qgeycpkhse vkaadedvfr kpglpppask plrpttkifs skstsriagl sksletssal
     1621 spslknkskg iqsilkvpqp vpliaqkpvg emknscnvlh pqspnnsnrw hkngstlqie
     1681 risisckyen flpii
//
LOCUS       XP_047298007            2083 aa            linear   PRI 20-MAR-2023
DEFINITION  host cell factor 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047298007
VERSION     XP_047298007.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442051.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2083
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..2083
                     /product="host cell factor 1 isoform X1"
                     /calculated_mol_wt=213688
     Region          <27..322
                     /region_name="PLN02193"
                     /note="nitrile-specifier protein"
                     /db_xref="CDD:177844"
     Region          33..80
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          84..134
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          137..196
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          200..253
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          255..319
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          319..>351
                     /region_name="Kelch_5"
                     /note="Kelch motif; pfam13854"
                     /db_xref="CDD:433528"
     Region          322..367
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          <466..771
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          <1128..1620
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <1904..1933
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(1922..1923,1925..1926)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1939..2044
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(1939,2017,2038)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(2039..2040,2042..2043)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..2083
                     /gene="HCFC1"
                     /gene_synonym="CFF; HCF; HCF-1; HCF1; HFC1; MAHCX; MRX3;
                     PPP1R89; VCAF; XLID3"
                     /coded_by="XM_047442051.1:979..7230"
                     /db_xref="GeneID:3054"
                     /db_xref="HGNC:HGNC:4839"
                     /db_xref="MIM:300019"
ORIGIN      
        1 masavspanl pavllqprwk rvvgwsgpvp rprhghrava ikelivvfgg gnegivdelh
       61 vyntatnqwf ipavrgdipp gcaaygfvcd gtrllvfggm veygkysndl yelqasrwew
      121 krlkaktpkn gpppcprlgh sfslvgnkcy lfgglandse dpknnipryl ndlyilelrp
      181 gsgvvawdip itygvlpppr eshtavvyte kdnkksklvi yggmsgcrlg dlwtldidtl
      241 twnkpslsgv aplprslhsa ttignkmyvf ggwvplvmdd vkvathekew kctntlacln
      301 ldtmawetil mdtlednipr araghcavai ntrlyiwsgr dgyrkawnnq vcckdlwyle
      361 tekpppparv qlvrantnsl evswgavata dsyllqlqky dipataatat sptpnpvpsv
      421 panppkspap aaaapavqpl tqvgitllpq aapapptttt iqvlptvpgs sisvptaart
      481 qgvpavlkvt gpqattgtpl vtmrpasqag kapvtvtslp agvrmvvptq saqgtvigss
      541 pqmsgmaala aaaaatqkip pssaptvlsv pagttivktm avtpgtttlp atvkvasspv
      601 mvsnpatrml ktaaaqvgts vssatntstr piitvhksgt vtvaqqaqvv ttvvggvtkt
      661 itlvkspisv pggsalisnl gkvmsvvqtk pvqtsavtgq astgpvtqii qtkgplpagt
      721 ilklvtsadg kpttiitttq asgagtkpti lgissvspst tkpgtttiik tipmsaiitq
      781 agatgvtssp gikspitiit tkvmtsgtga pakiitavpk iatghgqqgv tqvvlkgapg
      841 qpgtilrtvp mggvrlvtpv tvsavkpavt tlvvkgttgv ttlgtvtgtv stslagaggh
      901 stsaslatpi ttlgtiatls sqvinptait vsaaqttlta agglttptit mqpvsqptqv
      961 tlitapsgve aqpvhdlpvs ilasptteqp tatvtiadsg qgdvqpgtvt lvcsnppcet
     1021 hetgttntat ttvvanlggh pqptqvqfvc drqeaaaslv tstvgqqngs vvrvcsnppc
     1081 ethetgttnt attatsnmag qhgcsnppce thetgttnta ttamssvgan hqrdarraca
     1141 agtpaviris vatgaleaaq gsksqcqtrq tsatsttmtv matgapcsag pllgpsmare
     1201 pggrspafvq laplsskvrl sspsikdlpa grhshavsta amtrssvgag eprmapvces
     1261 lqggspsttv tvtaleallc psatvtqvcs nppcethetg ttntattsna gsaqrvcsnp
     1321 pcethetgtt htattatsng gtgqpeggqq ppagrpceth qttstgttms vsvgallpda
     1381 tsshrtvesg levaaapsvt pqagtallap fptqrvcsnp pcethetgtt htattvtsnm
     1441 ssnqdpppaa sdqgevestq gdsvnitsss aitttvsstl travttvtqs tpvpgpsvpk
     1501 issmtetapr alttevpipa kitvtiante tsdmpfsavd ilqppeelqv spgprqqlpp
     1561 rqllqsasta lmgesaevls asqtpelpaa vdlsstgeps sgqesagsav vatvvvqppp
     1621 ptqsevdqls lpqelmaeaq agtttlmvtg ltpeelavta aaeaaaqaaa teeaqalaiq
     1681 avlqaaqqav magtgepmdt seaaatvtqa elghlsaegq egqattipiv ltqqelaalv
     1741 qqqqlqeaqa qqqhhhlpte alapadslnd paiesnclne lagtvpstva llpstatesl
     1801 apsntfvapq pvvvaspakl qaaatlteva ngieslgvvs rkpdlpppps kapmkkenqw
     1861 fdvgvikgtn vmvthyflpp ddavpsdddl gtvpdynqlk kqelqpgtay kfrvaginac
     1921 grgpfseisa fktclpgfpg apcaikisks pdgahltwep psvtsgkiie ysvylaiqss
     1981 qaggelksst paqlafmrvy cgpspsclvq ssslsnahid yttkpaiifr iaarnekgyg
     2041 patqvrwlqe tskdssgtkp ankrpmsspe mksapkkska dgq
//
LOCUS       XP_054186969            1361 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase EHMT2 isoform X2 [Homo sapiens].
ACCESSION   XP_054186969
VERSION     XP_054186969.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330994.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 10% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1361
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1361
                     /product="histone-lysine N-methyltransferase EHMT2 isoform
                     X2"
                     /calculated_mol_wt=147791
     CDS             1..1361
                     /gene="EHMT2"
                     /gene_synonym="BAT8; C6orf30; G9A; GAT8; KMT1C; NG36"
                     /coded_by="XM_054330994.1:134..4219"
                     /db_xref="GeneID:10919"
                     /db_xref="HGNC:HGNC:14129"
                     /db_xref="MIM:604599"
ORIGIN      
        1 mlrgcngagg pgrdlqqsrg papgadegtr vwevggvgte arvqppaape watgagapga
       61 rvrgtrgrpp gwgaagaggv gargprglgd kggaaraagr rgrgrgaeap pppppllsap
      121 emrglprgrg lmrargrgra appgsrgrgr ggphrgrgrp rsllslpraq aswtpqlstg
      181 ltsppvpclp sqgeapaemg allleketrg atervhgslg dtprseetlp katpdslepa
      241 gpsspasvtv tvgdegadtp vgatpligde senlegdgdl rggrillgha tksfpsspsk
      301 ggscpsrakm smtgagkspp svqslamrll smpgaqgaaa agsepppatt spegqpkvhr
      361 arktmskpgn gqppvpekrp peiqhfrmsd dvhslgkvts dlakrrklns ggglseelgs
      421 arrsgevtlt kgdpgsleew etvvgddfsl yydsysvder vdsdskseve alteqlseee
      481 eeeeeeeeee eeeeeeeeee edeesgnqsd rsgssgrrka kkkwrkdspw vkpsrkrrkr
      541 epprakeprg vsndtsslet ergfeelplc scrmeapkid riseraghkc matesvdgel
      601 sgcnaailkr etmrpssrva lmvlcethra rmvkhhccpg cgyfctagtf lechpdfrva
      661 hrfhkacvsq lngmvfcphc gedaseaqev tiprgdgvtp pagtaapapp plsqdvpgra
      721 dtsqpsarmr ghgeprrppc dpladtidss gpsltlpngg clsavglplg pgrealekal
      781 viqeserrkk lrfhprqlyl svkqgelqkv ilmlldnldp nfqsdqqskr tplhaaaqkg
      841 sveichvllq aganinavdk qqrtplmeav vnnhlevary mvqrggcvys keedgstclh
      901 haakignlem vslllstgqv dvnaqdsggw tpiiwaaehk hievirmllt rgadvtltdn
      961 vserlveeen iclhwasftg saaiaevlln arcdlhavny hgdtplhiaa resyhdcvll
     1021 flsrganpel rnkegdtawd ltpersdvwf alqlnrklrl gvgnrairte kiicrdvarg
     1081 yenvpipcvn gvdgepcped ykyisencet stmnidrnit hlqhctcvdd csssnclcgq
     1141 lsircwydkd grllqefnki epplifecnq acscwrnckn rvvqsgikvr lqlyrtakmg
     1201 wgvralqtip qgtficeyvg elisdaeadv reddsylfdl dnkdgevyci daryygnisr
     1261 finhlcdpni ipvrvfmlhq dlrfpriaff ssrdirtgee lgfdygdrfw dikskyftcq
     1321 cgsekckhsa eaialeqsrl arldphpell pelgslppvn t
//
LOCUS       XP_054191087             329 aa            linear   PRI 20-MAR-2023
DEFINITION  exostosin-like 2 isoform X4 [Homo sapiens].
ACCESSION   XP_054191087
VERSION     XP_054191087.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335112.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..329
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..329
                     /product="exostosin-like 2 isoform X4"
                     /calculated_mol_wt=37264
     CDS             1..329
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /coded_by="XM_054335112.1:335..1324"
                     /db_xref="GeneID:2135"
                     /db_xref="HGNC:HGNC:3516"
                     /db_xref="MIM:602411"
ORIGIN      
        1 mrcchicklp grvmgirvlr lslvvilvll lvagaltall psvkedkmlm lrreiksqgk
       61 stmdsftlim qtynrtdlll kllnhyqavp nlhkvivvwn nigekapdel wnslgphpip
      121 vifkqqtanr mrnrlqvfpe letnvlmvdd dtlistpdlv fafsvwqqfp dqivgfvprk
      181 hvstssgiys ygsfemqapg sgngdqysmv ligasffnsk ylelfqrqpa avhaliddtq
      241 ncddiamnfi iakhigktsg ifvkpvnmdn leketnsgys gmwhraehal qrsycinklv
      301 niydsmplry snimisqfgf pyanykrki
//
LOCUS       XP_054191980             589 aa            linear   PRI 20-MAR-2023
DEFINITION  TAF5-like RNA polymerase II p300/CBP-associated factor-associated
            factor 65 kDa subunit 5L isoform X1 [Homo sapiens].
ACCESSION   XP_054191980
VERSION     XP_054191980.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336005.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..589
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..589
                     /product="TAF5-like RNA polymerase II p300/CBP-associated
                     factor-associated factor 65 kDa subunit 5L isoform X1"
                     /calculated_mol_wt=66024
     CDS             1..589
                     /gene="TAF5L"
                     /gene_synonym="PAF65B"
                     /coded_by="XM_054336005.1:140..1909"
                     /db_xref="GeneID:27097"
                     /db_xref="HGNC:HGNC:17304"
ORIGIN      
        1 mkrvrteqiq mavscylkrr qyvdsdgplk qglrlsqtae emaanltvqs esgcanivsa
       61 apcqaepqqy evqfgrlrnf ltdsdsqhsh evmpllyplf vylhlnlvqn spkstvesfy
      121 srfhgmflqn asqkdvieql qttqtiqdil snfklrafld nkyvvrlqed synylirylq
      181 sdnntalckv ltlhihldvq pakrtdyqly asgsssrsen ngleppdmps pilqneaale
      241 vlqesikrvk dgppslttic fyafynteql lntaeispds kllaagfdns ciklwslrsk
      301 klksephqvd vsrihlacdi leeeddeddn agtemkilrg hcgpvystrf ladssgllsc
      361 sedmsirywd lgsftntvly qghaypvwdl dispyslyfa sgshdrtarl wsfdrtyplr
      421 iyaghladvd cvkfhpnsny latgstdktv rlwsaqqgns vrlftghrgp vlslafspng
      481 kylasagedq rlklwdlasg tlykelrght dnitsltfsp dsgliasasm dnsvrvwdir
      541 ntycsapadg ssselvgvyt gqmsnvlsvq fmacnlllvt gitqenqeh
//
LOCUS       XP_054193281             492 aa            linear   PRI 20-MAR-2023
DEFINITION  sushi domain-containing protein 4 isoform X3 [Homo sapiens].
ACCESSION   XP_054193281
VERSION     XP_054193281.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337306.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..492
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..492
                     /product="sushi domain-containing protein 4 isoform X3"
                     /calculated_mol_wt=53846
     CDS             1..492
                     /gene="SUSD4"
                     /gene_synonym="PRO222"
                     /coded_by="XM_054337306.1:61..1539"
                     /db_xref="GeneID:55061"
                     /db_xref="HGNC:HGNC:25470"
                     /db_xref="MIM:615827"
ORIGIN      
        1 myhgmnpsng dgfleqqqqq qqpqspqrll avilwfqlal cfgpaqltgg fddlqvcadp
       61 gipengfrtp sggvffegsv arfhcqdgfk lkgatkrlcl khfngtlgwi psdnsicvqe
      121 dcripqieda eihnktyrhg ekliitcheg fkirypdlhn mvslcrddgt wnnlpicqgc
      181 lrplassngy vniselqtsf pvgtvisyrc fpgfkldgsa yleclqnliw ssspprclal
      241 eaqvcplppm vshgdfvchp rpcerynhgt vvefycdpgy sltsdykyit cqygewfpsy
      301 qvycikseqt wpsthetllt twkivaftat svllvlllvi larmfqtkfk ahfpprgppr
      361 ssssdpdfvv vdgvpvmlps ydeavsggls algpgymasv gqgcplpvdd qsppaypgsg
      421 dtdtgpgese tcdsvsgsse llqslysppr cqesthpasd npdiiastae evastspgid
      481 iadeiplmee dp
//
LOCUS       XP_054222052             479 aa            linear   PRI 20-MAR-2023
DEFINITION  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X5
            [Homo sapiens].
ACCESSION   XP_054222052
VERSION     XP_054222052.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366077.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..479
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..479
                     /product="6-phosphofructo-2-kinase/fructose-2,
                     6-bisphosphatase 3 isoform X5"
                     /calculated_mol_wt=54333
     CDS             1..479
                     /gene="PFKFB3"
                     /gene_synonym="iPFK-2; IPFK2; PFK2"
                     /coded_by="XM_054366077.1:330..1769"
                     /db_xref="GeneID:5209"
                     /db_xref="HGNC:HGNC:8874"
                     /db_xref="MIM:605319"
ORIGIN      
        1 mpleltqsrv qkiwvpvdhr pslprscgpk ltnsptvivm vglpargkty iskkltryln
       61 wigvptkvfn vgeyrreavk qyssynffrp dneeamkvrk qcalaalrdv ksylakeggq
      121 iavfgatntt rerrhmilhf akendfkaff iesvcddptv vasnimevki sspdykdcns
      181 aeamddfmkr iscyeasyqp ldpdkcdrdl slikvidvgr rflvnrvqdh iqsrivyylm
      241 nihvqprtiy lcrhgenehn lqgriggdsg lssrgkkfas alskfveeqn lkdlrvwtsq
      301 lkstiqtaea lrlpyeqwka lneidasyqd lvqrlepvim elerqenvlv ichqavlrcl
      361 layfldksae empylkcplh tvlkltpvay gcrvesiyln vesvcthrer sedakkgpnp
      421 lmrrnsvtpl aspeptkkpr insfeehvas tsaalpsclp pevptqlpgq pllgqaclt
//
LOCUS       XP_054225549             354 aa            linear   PRI 20-MAR-2023
DEFINITION  CREB/ATF bZIP transcription factor isoform X2 [Homo sapiens].
ACCESSION   XP_054225549
VERSION     XP_054225549.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369574.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..354
                     /product="CREB/ATF bZIP transcription factor isoform X2"
                     /calculated_mol_wt=37003
     CDS             1..354
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /coded_by="XM_054369574.1:255..1319"
                     /db_xref="GeneID:58487"
                     /db_xref="HGNC:HGNC:24905"
                     /db_xref="MIM:606444"
ORIGIN      
        1 mrhsltklla asgsnsptrs espepaatcs lpsdltraaa geeetaaags pgrkqqfgde
       61 geleagrgsr ggvavrapsp eemeeeaias lpgeetedmd flsgleladl ldprqpdwhl
      121 dpglsspgpl sssgggsdsg glwrgdddde aaaaemqrfs dllqrllngi ggcssssdsg
      181 saekrrrksp gggggggsgn dnnqaatksp rkaaaaaarl nrlkkkeyvm glesrvrgla
      241 aenqelraen relgkrvqal qeesrylrav lanetglarl lsrlsgvglr lttslfrdsp
      301 agdhdyalpv gkqkqdllee ddsaggvclh vdkdkvsvef csacarkass slkm
//
LOCUS       XP_054227687             607 aa            linear   PRI 20-MAR-2023
DEFINITION  non-homologous end joining factor IFFO1 isoform X6 [Homo sapiens].
ACCESSION   XP_054227687
VERSION     XP_054227687.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371712.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..607
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..607
                     /product="non-homologous end joining factor IFFO1 isoform
                     X6"
                     /calculated_mol_wt=66906
     CDS             1..607
                     /gene="IFFO1"
                     /gene_synonym="HOM-TES-103; IFFO"
                     /coded_by="XM_054371712.1:14..1837"
                     /db_xref="GeneID:25900"
                     /db_xref="HGNC:HGNC:24970"
                     /db_xref="MIM:610495"
ORIGIN      
        1 mnplfgpnlf llqqeqqgla gplgdslggd hfagggdlpp aplspagpaa ysppgpgpap
       61 paamalrndl gsninvlktl nlrfrcflak vhelerrnrl lekqlqqale egkqgrrglg
      121 rrdqavqtgf vspirplglq lgarpaavcs psarvlgspa rspagplaps aaslssssts
      181 tsttysssar fmpgtiwsfs harrlgpgle ptlvqgpgls wvhpdgvgvq idtitpeira
      241 lynvlakvkr erdeykrrwe eeytvriqlq drvnelqeea qeadacqeel alkveqlkae
      301 lvvfkglmsn nlseldtkiq ekamkvdmdi crriditakl cdvaqqrnce dmiqmfqkkl
      361 slhlspikvp smggrkrerk aaveedtsls esegprqpdg deeestalsi neemqrmlnq
      421 lreydfeddc dsltweetee tlllwedfsg yamaaaeaqg evtsapglra lwlclsslkp
      481 tppllsllcp pmwlssstcv splplsfcfs fssffnqtss lslsltwpfg mrpipsllgw
      541 ppplpfllqq qedslekvik dteslfktre keyqetidqi eakisrksrg nngvfaafcl
      601 glvyfki
//
LOCUS       XP_054235786             653 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA repair endonuclease XPF isoform X2 [Homo sapiens].
ACCESSION   XP_054235786
VERSION     XP_054235786.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379811.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..653
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..653
                     /product="DNA repair endonuclease XPF isoform X2"
                     /calculated_mol_wt=74265
     CDS             1..653
                     /gene="ERCC4"
                     /gene_synonym="ERCC11; FANCQ; RAD1; XFEPS; XPF"
                     /coded_by="XM_054379811.1:146..2107"
                     /db_xref="GeneID:2072"
                     /db_xref="HGNC:HGNC:3436"
                     /db_xref="MIM:133520"
ORIGIN      
        1 mtirhyldpl whqlgaktks lvqdlkilrt llqylsqydc vtflnllesl ratekafgqn
       61 sgwlfldsst smfinararv yhlpdakmsk kekisekmei kegeetkkel vlesnpkwea
      121 ltevlkeiea enkesealgg pgqvlicasd drtcsqlrdy itlgaeafll rlyrktfekd
      181 skaeevwmkf rkedsskrir kshkrpkdpq nkerastker tlkkkkrklt ltqmvgkpee
      241 leeegdveeg yrreissspe scpeeikhee fdvnlssdaa fgilkeplti ihpllgcsdp
      301 yaltrvlhev epryvvlyda eltfvrqlei yrasrpgkpl rvyfliyggs teeqryltal
      361 rkekeafekl irekasmvvp eeregrdetn ldlvrgtasa dvstdtrkag gqeqngtqqs
      421 ivvdmrefrs elpslihrrg idiepvtlev gdyiltpemc verksisdli gslnngrlys
      481 qcismsryyk rpvlliefdp skpfsltsrg alfqeissnd isskltlltl hfprlrilwc
      541 psphataelf eelkqskpqp daatalaita dsetlpesek ynpgpqdfll kmpgvnaknc
      601 rslmrhvkni aelaalsqde ltsilgnaan akqlydfiht sfaevvskgk gkk
//
LOCUS       XP_054169475             165 aa            linear   PRI 20-MAR-2023
DEFINITION  lipid droplet assembly factor 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054169475
VERSION     XP_054169475.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313500.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..165
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..165
                     /product="lipid droplet assembly factor 1 isoform X2"
                     /calculated_mol_wt=17586
     CDS             1..165
                     /gene="LDAF1"
                     /gene_synonym="TMEM159"
                     /coded_by="XM_054313500.1:172..669"
                     /db_xref="GeneID:57146"
                     /db_xref="HGNC:HGNC:30136"
                     /db_xref="MIM:611304"
ORIGIN      
        1 makeepqsis rdlqelqkkl sllidsfqnn sklpqhsris ldsddgvsrl gsagskvvaf
       61 mkspvgqyld shpflaftll vfivmsavpv gffllivvlt tlaallgvii leglvisvgg
      121 fsllcilcgl gfvslamsgm miasyvvvss liscwfsprs lsylp
//
LOCUS       XP_054169497             257 aa            linear   PRI 20-MAR-2023
DEFINITION  nmrA-like family domain-containing protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054169497
VERSION     XP_054169497.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313522.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..257
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..257
                     /product="nmrA-like family domain-containing protein 1
                     isoform X2"
                     /calculated_mol_wt=28081
     CDS             1..257
                     /gene="NMRAL1"
                     /gene_synonym="HSCARG; SDR48A1"
                     /coded_by="XM_054313522.1:375..1148"
                     /db_xref="GeneID:57407"
                     /db_xref="HGNC:HGNC:24987"
                     /db_xref="MIM:620004"
ORIGIN      
        1 mvdkklvvvf ggtgaqggsv artlledgtf kvrvvtrnpr kkaakelrlq gaevvqgdqd
       61 dqvimelaln gayatfivtn ywescsqeqe vkqgklladl arrlglhyvv ysglenikkl
      121 tagrlaaahf dgkgeveeyf rdigvpmtsv rlpcyfenll shflpqkapd gksyllslpt
      181 gdvpmdgmsv sdlgpvvlsl lkmpekyvgq niglstcrht aeeyaalltk htrkvvhdak
      241 vglppqeltg hrvkfla
//
LOCUS       XP_054170016             417 aa            linear   PRI 20-MAR-2023
DEFINITION  phagosome assembly factor 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054170016
VERSION     XP_054170016.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314041.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..417
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..417
                     /product="phagosome assembly factor 1 isoform X3"
                     /calculated_mol_wt=46751
     CDS             1..417
                     /gene="PHAF1"
                     /gene_synonym="C16orf6; C16orf70; lin-10; LIN10"
                     /coded_by="XM_054314041.1:293..1546"
                     /db_xref="GeneID:80262"
                     /db_xref="HGNC:HGNC:29564"
ORIGIN      
        1 msvetvcwrn qvvqiagmpl aqavailqkh criiknvqvl yseqsplshd lilnltqdgi
       61 klmfdafnqr lkvievcdlt kvklkycgvh fnsqaiapti eqidqsfgat hpgvynsaeq
      121 lfhlnfrgls fsfqldswte apkyepnfah glaslqiphg atvkrmyiys gnslqdtkap
      181 mmplscflgn vyaesvdvlr dgtgpaglrl rllaagcgpg lladakmrvf ersvyfgdsc
      241 qdvlsmlgsp hkvfyksedk mkihspsphk qvpskcndyf fnyftlgvdi lfdanthkvk
      301 kfvlhtnypg hynfniyhrc efkiplaikk enadgqtetc ttyskwdniq ellghpvekp
      361 vvlhrssspn ntnpfgstfc fglqrmifev mqnnhiasvt lygpprpgsh lrtaelp
//
LOCUS       XP_054197246             267 aa            linear   PRI 20-MAR-2023
DEFINITION  methionine aminopeptidase 1D, mitochondrial isoform X2 [Homo
            sapiens].
ACCESSION   XP_054197246
VERSION     XP_054197246.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341271.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..267
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..267
                     /product="methionine aminopeptidase 1D, mitochondrial
                     isoform X2"
                     /calculated_mol_wt=29829
     CDS             1..267
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /coded_by="XM_054341271.1:18..821"
                     /db_xref="GeneID:254042"
                     /db_xref="HGNC:HGNC:32583"
                     /db_xref="MIM:610267"
ORIGIN      
        1 maapsgvhll vrrgshrifs splnhiylhk qsssqqrrnf ffrrqrdish sivlpaavss
       61 ahpvpkhikk pdyvttgivp dwgdsievkn edqiqglhqa cqlarhvlll agkslkvdmt
      121 teeidalvhr eiishnayps plgyggfpks vctsvnnvlc hgipdsrplq dgdiinidvt
      181 vyyngyhgdt setflvgnvd ecgkklveva rrcrdeaiaa cragapfsvi gntisyikkk
      241 rrrrrrvelk vtldfsyldt kvsfhrv
//
LOCUS       XP_054199629           35622 aa            linear   PRI 20-MAR-2023
DEFINITION  titin isoform X1 [Homo sapiens].
ACCESSION   XP_054199629
VERSION     XP_054199629.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343654.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..35622
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..35622
                     /product="titin isoform X1"
                     /calculated_mol_wt=3954045
     CDS             1..35622
                     /gene="TTN"
                     /gene_synonym="CMD1G; CMH9; CMPD4; EOMFC; HMERF; LGMD2J;
                     LGMDR10; MYLK5; SALMY; TMD"
                     /coded_by="XM_054343654.1:226..107094"
                     /db_xref="GeneID:7273"
                     /db_xref="HGNC:HGNC:12403"
                     /db_xref="MIM:188840"
ORIGIN      
        1 mttqaptftq plqsvvvleg statfeahis gfpvpevswf rdgqvistst lpgvqisfsd
       61 grakltipav tkansgrysl katngsgqat staellvkae tappnfvqrl qsmtvrqgsq
      121 vrlqvrvtgi ptpvvkfyrd gaeiqssldf qisqegdlys lliaeayped sgtysvnatn
      181 svgratstae llvqgeeevp akktktivst aqisesrqtr iekkieahfd arsiatvemv
      241 idgaagqqlp hktpprippk pksrsptpps iaakaqlarq qspspirhsp spvrhvrapt
      301 pspvrsvspa aristspirs vrspllmrkt qastvatgpe vpppwkqegy vassseaemr
      361 ettlttstqi rteerwegry gvqeqvtisg aagaaasvsa sasyaaeava tgakevkqda
      421 dksaavatvv aavdmarvre pvisaveqta qrttttavhi qpaqeqqvrk eaektavtkv
      481 vvaadkakeq elksrtkevi ttkqeqmhvt heqirketek tfvpkvvisa akakeqetri
      541 seeitkkqkq vtqeairqet eitaasmvvv atakstklet vpgaqeettt qqdqmhlsye
      601 kimketrktv vpkvivatpk vkeqdlvsrg regittkreq vqitqekmrk eaektalsti
      661 avatakakeq etilrtretm atrqeqiqvt hgkvdvgkka eavatvvaav dqarvrepre
      721 pghleesyaq qttleygyke risaakvaep pqrpasephv vpkavkprvi qapsethikt
      781 tdqkgmhiss qikkttdltt erlvhvdkrp rtasphftvs kisvpktehg yeasiagsai
      841 atlqkelsat ssaqkitksv kaptvkpset rvraeptplp qfpfadtpdt ykseagvevk
      901 kevgvsitgt tvreerfevl hgreakvtet arvpapveip vtpptlvsgl knvtvieges
      961 vtlechisgy psptvtwyre dyqiessidf qitfqsgiar lmireafaed sgrftcsavn
     1021 eagtvstscy lavqvseefe kettavtekf tteekrfves rdvvmtdtsl teeqagpgep
     1081 aapyfitkpv vqklveggsv vfgcqvggnp kphvywkksg vplttgyryk vsynkqtgec
     1141 klvismtfad dageytivvr nkhgetsasa slleeadyel lmksqqemly qtqvtafvqe
     1201 pevgetapgf vyseyekeye keqalirkkm akdtvvvrty vedqefhiss feerlikeie
     1261 yriikttlee lleedgeekm avdiseseav esgfdlrikn yrilegmgvt fhckmsgypl
     1321 pkiawykdgk rikhgeryqm dflqdgrasl ripvvlpede giytafasni kgnaicsgkl
     1381 yvepaaplga ptyiptlepv srirslsprs vsrspirmsp armsparmsp armsparmsp
     1441 grrleetdes qlerlykpvf vlkpvsfkcl egqtarfdlk vvgrpmpetf wfhdgqqivn
     1501 dythkvvike dgtqsliivp atpsdsgewt vvaqnragrs sisviltvea vehqvkpmfv
     1561 eklknvnike gsrlemkvra tgnpnpdivw lknsdiivph kypkiriegt kgeaalkids
     1621 tvsqdsawyt atainkagrd ttrckvnvev efaepeperk liiprgtyra keiaapelep
     1681 lhlrygqeqw eegdlydkek qqkpffkkkl tslrlkrfgp ahfecrltpi gdptmvvewl
     1741 hdgkpleaan rlrminefgy csldygvays rdsgiitcra tnkygtdhts atlivkdeks
     1801 lveesqlpeg rkglqrieel ermahegalt gvttdqkekq kpdivlypep vrvlegetar
     1861 frcrvtgypq pkvnwylngq lirkskrfrv rydgihyldi vdcksydtge vkvtaenpeg
     1921 viehkvklei qqredfrsvl rrapeprpef hvhepgklqf evqkvdrpvd ttetkevvkl
     1981 kraerithek vpeeseelrs kfkrrteegy yeaitavelk srkkdesyee llrktkdell
     2041 hwtkelteee kkalaeegki tiptfkpdki elspsmeapk iferiqsqtv gqgsdahfrv
     2101 rvvgkpdpec ewykngvkie rsdriywywp ednvcelvir dvtaedsasi mvkainiage
     2161 tsshafllvq akqlitftqe lqdvvakekd tmatfecets epfvkvkwyk dgmevhegdk
     2221 yrmhsdrkvh flsiltidts daedyscvlv edenvkttak livegavvef vkelqdievp
     2281 esysgeleci vspeniegkw yhndvelksn gkytitsrrg rqnltvkdvt kedqgeysfv
     2341 idgkkttckl kmkprpiail qglsdqkvce gdivqlevkv slesvegvwm kdgqevqpsd
     2401 rvhividkqs hmlliedmtk edagnysfti palglstsgr vsvysvdvit plkdvnvieg
     2461 tkavleckvs vpdvtsvkwy lndeqikpdd rvqaivkgtk qrlvinrtha sdegpykliv
     2521 grvetncnls vekikiirgl rdltctetqn vvfevelshs gidvlwnfkd keikpsskyk
     2581 ieahgkiykl tvlnmmkdde gkytfyagen mtsgkltvag gaiskpltdq tvaesqeavf
     2641 ecevanpdsk gewlrdgkhl pltnnirses dghkrrliia atklddigey tykvatskts
     2701 aklkveavki kktlknltvt etqdavftve lthpnvkgvq wikngvvles nekyaisvkg
     2761 tiyslriknc aivdesvygf rlgrlgasar lhvetvkiik kpkdvtalen atvafevsvs
     2821 hdtvpvkwfh ksveikpsdk hrlvserkvh klmlqnisps dageytavvg qleckaklfv
     2881 etlhitktmk nievpetkta sfecevshfn vpsmwlkngv eiemsekfki vvqgklhqli
     2941 imntstedsa eytfvcgndq vsatltvtpi mitsmlkdin aeekdtitfe vtvnyegisy
     3001 kwlkngveik stdkcqmrtk klthslnirn vhfgdaadyt fvagkatsta tlyvearhie
     3061 frkhikdikv lekkramfec evsepditvq wmkddqelqi tdrikiqkek yvhrllipst
     3121 rmsdagkytv vaggnvstak lfvegrdvri rsikkevqvi ekqravvefe vneddvdahw
     3181 ykdgieinfq vqerhkyvve rrihrmfise trqsdageyt fvagrnrssv tlyvnapepp
     3241 qvlqelqpvt vqsgkparfc amisgrpqpk iswykeeqll stgfkckflh dgqeytllli
     3301 eafpedaavy tceakndygv attsaslsve vpevvspdqe mpvyppaiit plqdtvtseg
     3361 qparfqcrvs gtdlkvswys kdkkikpsrf frmtqfedty qleiaeaype degtytfvan
     3421 navgqvssta nlsleapesi lherieqeie memkefsssf lsaeeeglhs aelqlskine
     3481 tlellsespv yptkfdseke gtgpifikev snadismgdv atlsvtvigi pkpkiqwffn
     3541 gvlltpsady kfvfdgddhs liilftkled egeytcmasn dygkticsay lkinskgegh
     3601 kdtetesava ksleklggpc pphflkelkp ircaqglpai feytvvgepa ptvtwfkenk
     3661 qlctsvyyti ihnpngsgtf ivndpqreds glyickaenm lgestcaael lvlledtdmt
     3721 dtpckakstp eapedfpqtp lkgpaveald seqeiatfvk dtilkaalit eenqqlsyeh
     3781 iakanelssq lplgaqelqs ileqdkltpe streflcing sihfqplkep spnlqlqivq
     3841 sqktfskegi lmpeepetqa vlsdtekifp samsieqins ltveplktll aepegnypqs
     3901 sieppmhsyl tsvaeevlsp kektvsdtnr eqrvtlqkqe aqsalilsqs laeghveslq
     3961 spdvmisqvn yeplvpsehs cteggkilie sanplenagq dsavrieegk slrfplalee
     4021 kqvllkeehs dnvvmppdqi ieskrepvai kkvqevqgrd llskesllsg ipeeqrlnlk
     4081 iqicqalqaa vaseqpglfs ewlrniekve veavnitqep rhimcmylvt saksvteevt
     4141 iiiedvdpqm anlkmelrda lcaiiyeeid iltaegpriq qgaktslqee mdsfsgsqkv
     4201 epitepeves kylisteevs yfnvqsrvky ldatpvtkgv asavvsdekq deslkpseek
     4261 eesssesgte evatvkiqea egglikedgp mihtplvdtv seegdivhlt tsitnakevn
     4321 wyfenklvps dekfkclqdq ntytlvidkv ntedhqgeyv cealndsgkt atsakltvvk
     4381 raapvikrki eplevalghl akftceiqsa pnvrfqwfka greiyesdkc sirsskyiss
     4441 leilrtqvvd cgeytckasn eygsvsctat ltvteayppt flsrpksltt fvgkaakfic
     4501 tvtgtpviet iwqkdgaals pspnwrisda enkhilelsn ltiqdrgvys ckasnkfgad
     4561 icqaeliiid kphfikelep vqsainkkvh lecqvdedrk vtvtwskdgq klppgkdyki
     4621 cfedkiatle iplaklkdsg tyvctasnea gssscsatvt vreppsfvkk vdpsylmlpg
     4681 esarlhcklk gspviqvtwf knnkelsesn tvrmyfvnse ailditdvkv edsgsyscea
     4741 vndvgsdscs teivikepps fiktlepadi vrgtnallqc evsgtgpfei swfkdkkqir
     4801 sskkyrlfsq kslvcleifs fnsadvgeye cvvanevgkc gcmathllke pptfvkkvdd
     4861 lialggqtvt lqaavrgsep isvtwmkgqe viredgkikm sfsngvavli ipdvqisfgg
     4921 kytclaenea gsqtsvgeli vkepakiier aeliqvtagd patleytvag tpelkpkwyk
     4981 dgrplvaskk yrisfknnva qlkfysaelh dsgqytfeis nevgssscet tftvldrdia
     5041 pfftkplrnv dsvvngtcrl dckiagslpm rvswfkdgke iaasdryria fvegtaslei
     5101 irvdmndagn ftcratnsvg skdssgaliv qeppsfvtkp gskdvlpgsa vclkstfqgs
     5161 tpltirwfkg nkelvsggsc yitkealess lelylvktsd sgtytckvsn vaggvecsan
     5221 lfvkepatfv eklepsqllk kgdatqlack vtgtppikit wfandreike sskhrmsfve
     5281 stavlrltdv giedsgeymc eaqneagsdh cssivivkes pyftkefkpi evlkeydvml
     5341 laevagtppf eitwfkdnti lrsgrkyktf iqdhlvslqi lkfvaadage yqcrvtnevg
     5401 ssicsarvtl reppsfikki estsslrggt aafqatlkgs lpitvtwlkd sdeiteddni
     5461 rmtfennvas lylsgievkh dgkyvcqakn dagiqrcsal lsvkepatit eeavsidvtq
     5521 gdpatlqvkf sgtkeitakw fkdgqeltlg skykisvtdt vsilkiiste kkdsgeytfe
     5581 vqndvgrssc karinvldli ippsftkklk kmdsikgsfi dlecivagsh pisiqwfkdd
     5641 qeisasekyk fsfhdntafl eisqlegtds gtytcsatnk aghnqcsghl tvkeppyfve
     5701 kpqsqdvnpn trvqlkalvg gtapmtikwf kdnkelhsga arsvwkddts tslelfaaka
     5761 tdsgtyicql sndvgtatsk atlfvkeppq fikkpspvlv lrngqsttfe cqitgtpkir
     5821 vswyldgnei taiqkhgisf idglatfqis garvensgty vcearndagt ascsielkvk
     5881 epptfirelk pvevvkysdv elecevtgtp pfevtwlknn reirsskkyt ltdrvsvfnl
     5941 hitkcdpsdt geyqcivsne ggscscstrv alkeppsfik kientttvlk ssatfqstva
     6001 gsppisitwl kddqildedd nvyisfvdsv atlqirsvdn ghsgrytcqa knesgvercy
     6061 afllvqepaq ivekaksvdv tekdpmtlec vvagtpelkv kwlkdgkqiv psryfsmsfe
     6121 nnvasfriqs vmkqdsgqyt fkvendfgss scdaylrvld qnippsftkk ltkmdkvlgs
     6181 sihmeckvsg slpisaqwfk dgkeistsak yrlvchersv slevnnlele dtanytckvs
     6241 nvagddacsg iltvkeppsf lvkpgrqqai pdstvefkai lkgtppfkik wfkddvelvs
     6301 gpkcfigleg stsflnlysv dasktgqytc hvtndvgsds cttmllvtep pkfvkkleas
     6361 kivkagdssr leckiagspe irvvwfrneh elpasdkyrm tfidsvaviq mnnlstedsg
     6421 dficeaqnpa gstscstkvi vkeppvfssf ppivetlkna evslecelsg tppfevvwyk
     6481 dkrqlrsskk ykiasknfht sihilnvdts digeyhckaq nevgsdtcvc tvklkepprf
     6541 vsklnsltvv agepaelqas iegaqpifvq wlkekeevir eseniritfv envatlqfak
     6601 aepanagkyi cqikndggmr enmatlmvle pavivekagp mtvtvgetct leckvagtpe
     6661 lsvewykdgk lltssqkhkf sfynkisslr ilsverqdag tytfqvqnnv gkssctavvd
     6721 vsdravppsf trrlkntggv lgascileck vagsspisva wfhektkivs gakyqttfsd
     6781 nvctlqlnsl dssdmgnytc vaanvagsde cravltvqep psfvkepepl evlpgknvtf
     6841 tsvirgtppf kvnwfrgare lvkgdrcniy fedtvaelel fnidisqsge ytcvvsnnag
     6901 qascttrlfv kepaaflkrl sdhsvepgks iilestytgt lpisvtwkkd gfnittsekc
     6961 nivttektci leilnstkrd agqysceien eagrdvcgal vstleppyfv telepleaav
     7021 gdsvslqcqv agtpeitvsw ykgdtklrpt peyrtyftnn vatlvfnkvn indsgeytck
     7081 aensigtass ktvfriqerq lppsfarqlk dieqtvglpv tltcrlngsa piqvcwyrdg
     7141 vllrddenlq tsfvdnvatl kilqtdlshs gqyscsasnp lgtasssarl tarepkkspf
     7201 fdikpvsidv iagesadfec hvtgaqpmri twskdnkeir pggnytitcv gntphlrilk
     7261 vgkgdsgqyt cqatndvgkh mcsaqlsvke ppkfvkklea skvakqgesi qleckisgsp
     7321 eikvswfrnd selheswkyn msfinsvall tineasaeds gdyiceahng vgdascstal
     7381 tvkappvftq kpspvgalkg sdvilqceis gtppfevvwv kdrkqvrnsk kfkitskhfd
     7441 tslhilnlea sdvgeyhcka tnevgsdtcs csvkfkeppr fvkklsdtst ligdavelra
     7501 ivegfqpisv vwlkdrgevi resentrisf idniatlqlg speasnsgky icqikndagm
     7561 recsavltvl epariiekpe pmtvttgnpf alecvvtgtp elsakwfkdg relsadskhh
     7621 itfinkvasl kipcaemsdk glysfevkns vgksnctvsv hvsdrivpps firklkdvna
     7681 ilgasvvlec rvsgsapisv gwfqdgneiv sgpkcqssfs envctlnlsl lepsdtgiyt
     7741 cvaanvagsd ecsavltvqe ppsfeqtpds vevlpgmslt ftsvirgtpp fkvkwfkgsr
     7801 elvpgescni sledfvtele lfevqplesg dysclvtnda gsasctthlf vkepatfvkr
     7861 ladfsvetgs pivleatytg tppisvswik deylisqser csitmtekst ileilestie
     7921 dyaqysclie neagqdicea lvsvleppyf ieplehveav igepatlqck vdgtpeiris
     7981 wykehtklrs apaykmqfkn nvaslvinkv dhsdvgeysc kadnsvgava ssavlvikar
     8041 klppffarkl kdvhetlgfp vafecrings eplqvswykd gvllkddanl qtsfvhnvat
     8101 lqilqtdqsh igqyncsasn plgtasssak lilsehevpp ffdlkpvsvd lalgesgtfk
     8161 chvtgtapik itwakdnrei rpggnykmtl ventatltvl kvgkgdagqy tcyasniagk
     8221 dscsaqlgvq epprfikkle psrivkqdef tryeckiggs peikvlwykd eteiqesskf
     8281 rmsfvdsvav lemhnlsved sgdytceahn aagsasssts lkvkeppifr kkphpietlk
     8341 gadvhlecel qgtppfhvsw ykdkrelrsg kkykimsenf ltsihilnvd aadigeyqck
     8401 atndvgsdtc vgsialkapp rfvkklsdis tvvgkevqlq ttiegaepis vvwfkdkgei
     8461 vresdniwis yseniatlqf srvepanagk ytcqikndag mqecfatlsv lepativekp
     8521 esikvttgdt ctlectvagt pelstkwfkd gkeltsdnky kisffnkvsg lkiinvapsd
     8581 sgvysfevqn pvgkdsctas lqvsdrtvpp sftrklketn glsgssvvme ckvygsppis
     8641 vswfhegnei ssgrkyqttl tdntcaltvn mleesdsgdy tciatnmags decsapltvr
     8701 eppsfvqkpd pmdvltgtnv tftsivkgtp pfsvswfkgs selvpgdrcn vsledsvael
     8761 elfdvdtsqs geytcivsne agkasctthl yikapakfvk rlndysiekg kplilegtft
     8821 gtppisvtwk knginvtpsq rcnittteks aileipsstv edagqyncyi enasgkdscs
     8881 aqilileppy fvkqlepvkv svgdsaslqc qlagtpeigv swykgdtklr ptttykmhfr
     8941 nnvatlvfnq vdindsgeyi ckaensvgev sastfltvqe qklppsfsrq lrdvqetvgl
     9001 pvvfdcaisg sepisvswyk dgkplkdspn vqtsfldnta tlnifktdrs lagqysctat
     9061 npigsasssa rliltegknp pffdirlapv davvgesadf echvtgtqpi kvswakdsre
     9121 irsggkyqis ylensahltv lkvdkgdsgq ytcyavnevg kdsctaqlni kerlippsft
     9181 krlsetveet egnsfklegr vagsqpitva wyknnieiqp tsnceitfkn ntlvlqvrka
     9241 gmndaglytc kvsndagsal ctssivikep kkppvfdqhl tpvtvsegey vqlschvqgs
     9301 epiriqwlka greikpsdrc sfsfasgtav lelrdvakad sgdyvckasn vagsdttksk
     9361 vtikdkpava patkkaavdg rlffvsepqs irvvekttat fiakvggdpi pnvkwtkgkw
     9421 rqlnqggrvf ihqkgdeakl eirdttktds glyrcvafne hgeiesnvnl qvderkkqek
     9481 iegdlramlk ktpilkkgag eeeeidimel lknvdpkeye kyarmygitd frgllqafel
     9541 lkqsqeeeth rleieeiers erdekefeel vsfiqqrlsq tepvtlikdi enqtvlkdnd
     9601 avfeidikin ypeiklswyk gteklepsdk feisidgdrh tlrvkncqlk dqgnyrlvcg
     9661 phiasakltv iepawerhlq dvtlkegqtc tmtcqfsvpn vksewfrngr ilkpqgrhkt
     9721 evehkvhklt iadvraedqg qytckyedle tsaelrieae piqftkriqn ivvsehqsat
     9781 fecevsfdda ivtwykgpte ltesqkynfr ndgrchymti hnvtpddegv ysviarlepr
     9841 gearstaely lttkeiklel kppdipdsrv piptmpirav ppeeippvva ppiplllptp
     9901 eekkpppkri evtkkavkkd akkvvakpke mtpreeivkk ppppttlipa kapeiidvss
     9961 kaeevkimti trkkevqkek eavyekkqav hkekrvfies feepydelev epytepfeqp
    10021 yyeepdedye eikveakkev heeweedfee gqeyyereeg ydegeeewee ayqereviqv
    10081 qkevyeeshe rkvpakvpek kappppkvik kpviekiekt srrmeeekvq vtkvpevskk
    10141 ivpqkpsrtp vqeevievkv pavhtkkmvi seekmffash teeevsvtvp evqkeivtee
    10201 kihvaiskrv epppkvpelp ekpapeevap vpipkkvepp apkvpevpkk pvpeekkpvp
    10261 vpkkepaapp kvpevpkkpv peekipvpva kkkeappakv pevqkgvvte ekitivtqre
    10321 espppavpei pkkkvpeerk pvprkeeevp pppkvpalpk kpvpeekvav pvpvakkapp
    10381 praevskktv veekrfvaee klsfavpqrv evtrhevsae eewsyseeee gvsisvyree
    10441 ereeeeeaev teyevmeepe eyvveeklhi iskrveaepa evterqekki vlkpkipaki
    10501 eepppakvpe apkkivpekk vpapvpkkek vpppkvpeep kkpvpekkvp pkvikmeepl
    10561 pakvterhmq itqeekvlva vtkkeappka rvpeepkrav peekvlklkp kreeeppakv
    10621 tefrkrvvke ekvsieapkr epqpikevti meekeraytl eeeavsvqre eeyeeyeeyd
    10681 ykefeeyept eeydqyeeye ereyeryeeh eeyitepekp ipvkpvpeep vptkpkappa
    10741 kvlkkavpee kvpvpipkkl kppppkvpee pkkvfeekir isitkrekeq vtepaakvpm
    10801 kpkrvvaeek vpvprkevap pvrvpevpke lepeevafee evvthveeyl veeeeeyihe
    10861 eeefiteeev vpvipvkvpe vprkpvpeek kpvpvpkkke appakvpevp kkpeekvpvl
    10921 ipkkekpppa kvpevpkkpv peekvpvpvp kkveappakv pevpkkpvpe kkvpvpapkk
    10981 veappakvpe vpkklipeek kptpvpkkve apppkvpkkr epvpvpvalp qeeevlfeee
    11041 ivpeeevlpe eeevlpeeee vlpeeeevlp eeeeippeee evppeeeyvp eeeefvpeee
    11101 vlpevkpkvp vpapvpevpk kpvpekkvpv papkkveppp ppkvpeikkk vtekkvvipk
    11161 keeappakvs vvpkkpepek kvpppglkka vappakvpev pkkveekrii lpkeeevlpv
    11221 evteepeeep iseeeipeep psieeveeva pprvpevikk avpeaptpvp kkveappakv
    11281 skkipeekvp vpvqkkeapp akvpevpkkv pekkvlvpkk eavppakgrt vleekvsvaf
    11341 rqevvvkerl elevveaeve eipeeeefhe veeyfeegef heveefikle qhrveeehrv
    11401 ekvhrvievf eaeevevfek pkappkgpei sekiippkkp ptkvvprkep pakvpevpkk
    11461 ivveekvrvp eeprvpptka pevpkkivpe ekvreavlkk pevppakvye aseeavleek
    11521 vlvtqpqktk pklakvpepp kkvvpedkiy vtipkkretp atkepdttrg ifpeveppea
    11581 ipeipehppt eefevfkevi pegetpivkr rktpsptape amkevvpemk ifedvpeepe
    11641 tprmktpeap qeiipaktvp skkreppsvk vpealqeivp ekktlvvplr kpevlpdevp
    11701 ealrevvpek kvhppqraev vpvkvheapk eiipekkvsv vppkkpevpp vkvpeaskev
    11761 ireekvplap pkepevppvk vpeppkevvp ekkapvappk epevppvkvp eapkevvpek
    11821 kvpvpppkkp evpptkvpev pkaavpekkl peaippkpes pppevpevlp pkevvpekkv
    11881 pvppakkpea pppkvpeapk evvlekkasv avpkkpeapr akvpeaaqev vpekkipkap
    11941 ikkpeapavt vpevpqeate keipvappkk peapivpvpe aqevvpekkv pkapptkpea
    12001 ppatvpevpq eivpekktlv lpkkpevppv tvpeapkevv lekkvpsapp kkpevppvkv
    12061 peapkevvpe kkvpvpppkk pevpptkvpe vpkaavpekk vpeaippkpe spppevpevl
    12121 ppkevvpekk vpvppakkpe apppkvpeap kevvlekkas vavpkkpeap rakvpeaaqe
    12181 vvpekkipka pikkpeapav tvpevpqeaa ekeipvappk kpeapivpvp eaqevvpekk
    12241 vpkapptkpe appatvpevp qeivpekktl vlpkkpevpp vtvpeapkev vlekkvpstp
    12301 pkkpevppvk vpeapkevvp ekkvpvpppk kpevpptkvp evpkaavpek kvpeaippkp
    12361 espppevpev lppkevvpek kvpvppakkp eapppkvpea pkevvlekkv svavpkkpea
    12421 prakvpeaaq evvpekkipk apikkpeapa vtvpevpqea aekeipvapp kkpeapivpv
    12481 peaqevvpek kvpkapptkp eappatvpev pqeivpekkt lvlpkkpevp pvtvpeapke
    12541 vvlekkvpla ppkkpevppv kvpeapkevv pekkvpvtpp kkpevppvkv peapievvpe
    12601 kkmplappkk pevppvkvpe apkevvpekk vpsappkkpe vppvkvpeap kevvpekkvp
    12661 aappkkpevt pvkvpeapke vvpekkvpvp ppkkpevppt kvpevpkvav pekkvpeaip
    12721 pkpespppev feepeevale eppaevveep epaappqvtv ppkkpvpekk apavvakkpe
    12781 lppvkvpevp kevvpekkvp lvvpkkpeap pakvpevpke vvpekkvavp kkpevppakv
    12841 pevpkkpvle ekpavpvper aespppevye epeeiapeee iapeeekpvp vaeeeepevp
    12901 ppavpeepkk iipekkvpvi kkpeapppke pempkkvvpv kkvptvkkpe tpaakvpevp
    12961 kklvpvkkep vpvtkkpevl pekvpkvpek iipekevsvp ipaepevppa eveetpeeii
    13021 yeekasitig rketppveer eiekyikpee pepepqpeei pvkepepekv iekpklkprp
    13081 pppppappke dvkekifqlk aipkkkvpek pqvpekvelt plkvpggekk vrkllperkp
    13141 epkeevvlks vlrkrpeeee pkvepkklek vkkpavpepp ppkpveevev ptvtkrerki
    13201 peptkvpeik paiplpapep kpkpeaevkt ikpppvepep tpiaapvtvp vvgkkaeaka
    13261 pkeeaakpkg pikgvpkktp spieaerrkl rpgsggekpp deapftyqlk avplkfvkei
    13321 kdiiltesef vgssaifecl vspstaittw mkdgsnires pkhrfiadgk drklhiidvq
    13381 lsdageytcv lrlgnkekts taklvveelp vrfvktleee vtvvkgqply lscelnkerd
    13441 vvwrkdgkiv vekpgrivpg viglmralti ndaddtdagt ytvtvenann lecsscvkvv
    13501 evirdwlvkp irdqhvkpkg taifacdiak dtpnikwfkg ydeipaepnd kteilrdgnh
    13561 lylkiknamp ediaeyavei egkrypaklt lgerevellk piedvtiyek esasfdaeis
    13621 eadipgqwkl kgellrpspt ceikaeggkr fltlhkvkld qagevlyqal naittailtv
    13681 keieldfavp lkdvtvperr qarfecvltr eanviwskgp diikssdkfd iiadgkkhil
    13741 vindsqfdde gvytaevegk ktsarlfvtg irlkfmsple dqtvkegeta tfvcelshek
    13801 mhvvwfknda klhtsrtvli ssegkthkle mkevtlddis qikaqvkels staqlkvlea
    13861 dpyftvklhd ktavekdeit lkcevskdvp vkwfkdgeei vpspkysika dglrrilkik
    13921 kadlkdkgey vcdcgtdktk anvtvearli evekplygve vfvgetahfe ielsepdvhg
    13981 qwklkgqplt aspdceiied gkkhililhn cqlgmtgevs fqaanaksaa nlkvkelpli
    14041 fitplsdvkv fekdeakfec evsrepktfr wlkgtqeitg ddrfelikdg tkhsmviksa
    14101 afedeakymf eaedkhtsgk liiegirlkf ltplkdvtak ekesavftve lshdnirvkw
    14161 fkndqrlhtt rsvsmqdegk thsitfkdls iddtsqirve amgmsseakl tvlegdpyft
    14221 gklqdytgve kdevilqcei skadapvkwf kdgkeikpsk navikadgkk rmlilkkalk
    14281 sdigqytcdc gtdktsgkld iedreiklvr plhsvevmet etarfeteis eddihanwkl
    14341 kgeallqtpd ceikeegkih slvlhncrld qtggvdfqaa nvkssahlrv kprvigllrp
    14401 lkdvtvtage tatfdcelsy edipvewylk gkklepsdkv vprsegkvht ltlrdvkled
    14461 agevqltakd fkthanlfvk eppveftkpl edqtveegat avlecevsre nakvkwfkng
    14521 teilkskkye ivadgrvrkl vihdctpedi ktytcdakdf ktscnlnvvp phveflrplt
    14581 dlqvrekema rfecelsren akvkwfkdga eikkgkkydi iskgavrilv inkcllddea
    14641 eyscevrtar tsgmltvlee eavftknlan ievsetdtik lvcevskpga eviwykgdee
    14701 iietgryeil tegrkrilvi qnahledagn yncrlpssrt dgkvkvhela aefiskpqnl
    14761 eilegekaef vcsiskesfp vqwkrddktl esgdkydvia dgkkrvlvvk datlqdmgty
    14821 vvmvgaaraa ahltvieklr ivvplkdtrv keqqevvfnc evntegakak wfrneeaifd
    14881 sskyiilqkd lvytlrirda hlddqanynv sltnhrgenv ksaanlivee edlriveplk
    14941 dietmekksv tfwckvnrln vtlkwtknge evpfdnrvsy rvdkykhmlt ikdcgfpdeg
    15001 eyivtagqdk svaelliiea ptefvehled qtvtefddav fscqlsreka nvkwyrngre
    15061 ikegkkykfe kdgsihrlii kdcrlddece yacgvedrks rarlfveeip veiirppqdi
    15121 leapgadvvf laelnkdkve vqwlrnnmvv vqgdkhqmms egkihrlqic dikprdqgey
    15181 rfiakdkear aklelaaapk iktadqdlvv dvgkpltmvv pydaypkaea ewfkenepls
    15241 tktidttaeq tsfrileakk gdkgrykivl qnkhgkaegf inlkvidvpg pvrnlevtet
    15301 fdgevslawe epltdggski igyvverrdi krktwvlatd raesceftvt glqkggveyl
    15361 frvsarnrvg tgepvetdnp vearskydvp gpplnvtitd vnrfgvsltw eppeydggae
    15421 itnyvielrd ktsirwdtam tvraedlsat vtdvvegqey sfrvraqnri gvgkpsaatp
    15481 fvkvadpier psppvnltss dqtqssvqlk wepplkdggs pilgyiierc eegkdnwirc
    15541 nmklvpelty kvtglekgnk ylyrvsaenk agvsdpseil gpltaddafv eptmdlsafk
    15601 dglevivpnp itilvpstgy prptatwcfg dkvletgdrv kmktlsayae lvispsersd
    15661 kgiytlklen rvktisgeid vnviarpsap kelkfgditk dsvhltwepp dddggspltg
    15721 yvvekrevsr ktwtkvmdfv tdleftvpdl vqgkeylfkv carnkcgpge payvdepvnm
    15781 stpatvpdpp envkwrdrta nsifltwdpp kndggsrikg yivercprgs dkwvacgepv
    15841 aetkmevtgl eegkwyayrv kalnrqgask psrpteeiqa vdtqeapeif ldvkllaglt
    15901 vkagtkielp atvtgkpepk itwtkadmil kqdkritien vpkkstvtiv dskrsdtgty
    15961 iieavnvcgr atavvevnvl dkpgppaafd itdvtnescl ltwnpprddg gskitnyvve
    16021 rratdsevwh klsstvkdtn fkatklipnk eyifrvaaen mygvgepvqa spitakyqfd
    16081 ppgpptrlep sditkdavtl twcepdddgg spitgywver ldpdtdkwvr cnkmpvkdtt
    16141 yrvkgltnkk kyrfrvlaen lagpgkpsks tepilikdpi dppwppgkpt vkdvgktsvr
    16201 lnwtkpehdg gakiesyvie mlktgtdewv rvaegvpttq hllpglmegq eysfrvravn
    16261 kagesepsep sdpvlcrekl yppspprwle vinitkntad lkwtvpekdg gspitnyive
    16321 krdvrrkgwq tvdttvkdtk ctvtpltegs lyvfrvaaen aigqsdytei edsvlakdtf
    16381 ttpgppyala vvdvtkrhvd lkweppkndg grpiqryvie kkerlgtrwv kagktagpdc
    16441 nfrvtdvieg tevqfqvrae neagvghpse pteilsiedp tsppsppldl hvtdagrkhi
    16501 aiawkppekn ggspiigyhv emcpvgtekw mrvnsrpikd lkfkveegvv pdkeyvlrvr
    16561 avnaigvsep seisenvvak dpdckptidl ethdiivieg eklsipvpfr avpvptvswh
    16621 kdgkevkasd rltmkndhis ahlevpksvr adagiytitl enklgsatas invkviglpg
    16681 pckdikasdi tkssckltwe ppefdggtpi lhyvlerrea grrtyipvms genklswtvk
    16741 dlipngeyff rvkavnkvgg geyielknpv iaqdpkqppd ppvdvevhnp taeamtitwk
    16801 pplydggski mgyiiekiak geerwkrcne hlvpiltyta kgleegkeyq frvraenaag
    16861 isepsratpp tkavdpidap kvilrtslev krgdeialda sisgspypti twikdenviv
    16921 peeikkraap lvrrrkgevq eeepfvlplt qrlsidnskk gesqlrvrds lrpdhglymi
    16981 kvendhgiak apctvsvldt pgppinfvfe dirktsvlck wepplddggs eiinytlekk
    17041 dktkpdsewi vvtstlrhck ysvtkliegk eylfrvraen rfgpgppcvs kplvakdpfg
    17101 ppdapdkpiv edvtsnsmlv kwnepkdngs pilgywlekr evnsthwsrv nksllnalka
    17161 nvdglleglt yvfrvcaena agpgkfspps dpktahdpis ppgppiprvt dtssttiele
    17221 weppafnggg eivgyfvdkq lvgtnewsrc tekmikvrqy tvkeiregad yklrvsavna
    17281 agegppgetq pvtvaepqep paveldvsvk ggiqimagkt lripavvtgr pvptkvwtke
    17341 egeldkdrvv idnvgtksel iikdalrkdh gryvitatns cgskfaaarv evfdvpgpvl
    17401 dlkpvvtnrk mcllnwsdpe ddggseitgf iierkdakmh twrqpieter skcditglle
    17461 gqeykfrvia knkfgcgppv eigpilavdp lgpptsperl tytertksti tldwkeprsn
    17521 ggspiqgyii ekrrhdkpdf ervnkrlcpt tsflvenlde hqmyefrvka vneigeseps
    17581 lplnvviqdd evpptiklrl svrgdtikvk agepvhipad vtglpmpkie wsknetviek
    17641 ptdalqitke evsrseakte lsipkavred kgtytvtasn rlgsvfrnvh vevydrpspp
    17701 rnlavtdika escyltwdap ldnggseith yvidkrdasr kkaeweevtn tavekrygiw
    17761 klipngqyef rvravnkygi sdecksdkvv iqdpyrlpgp pgkpkvlart kgsmlvswtp
    17821 pldnggspit gywlekreeg spywsrvsra pitkvglkgv efnvprlleg vkyqframai
    17881 naagigppse psdpevagdp ifppgppscp evkdktkssi slgwkppakd ggspikgyiv
    17941 emqeegttdw krvnepdkli ttcecvvpnl kelrkyrfrv kavneagese psdttgeipa
    18001 tdiqeepevf idigaqdclv ckagsqirip avikgrptpk sswefdgkak kamkdgvhdi
    18061 pedaqletae nssviiipec krshtgkysi taknkagqkt ancrvkvmdv pgppkdlkvs
    18121 ditrgscrls wkmpdddggd rikgyviekr tidgkawtkv npdcgsttfv vpdllseqqy
    18181 ffrvraenrf gigppvetiq rttardpiyp pdppiklkig litkntvhls wkppkndggs
    18241 pvthyivecl awdptgtkke awrqcnkrdv eelqftvedl veggeyefrv kavnaagvsk
    18301 psatvgpvtv kdqtcppsid lkefmeveeg tnvnivakik gvpfptltwf kappkkpdnk
    18361 epvlydthvn klvvddtctl vipqsrrsdt glytitavnn lgtaskemrl nvlgrpgppv
    18421 gpikfesvsa dqmtlswfpp kddggskitn yviekreanr ktwvhvssep kectytipkl
    18481 legheyvfri maqnkygige pldsepetar nlfsvpgapd kptvssvtrn smtvnweepe
    18541 ydggspvtgy wlemkdttsk rwkrvnrdpi kamtlgvsyk vtgliegsdy qfrvyainaa
    18601 gvgpaslpsd patardpiap pgppfpkvtd wtkssadlew spplkdggsk vtgyiveyke
    18661 egkeewekgk dkevrgtklv vtglkegafy kfrvravnia gigepgevtd viemkdrlvs
    18721 pdlqldasvr drivvhaggv iriiayvsgk ppptvtwnmn ertlpqeati ettaisssmv
    18781 ikncqrshqg vysllaknea gerkktiivd vldvpgpvgt pflahnltne sckltwfspe
    18841 ddggspitny viekresdrr awtpvtytvt rqnatvqgli qgkayffria aensigmgpf
    18901 vetsealvir epitvperpe dlevkevtkn tvtltwnppk ydggseiiny vlesrligte
    18961 kfhkvtndnl lsrkytvkgl kegdtyeyrv savnivgqgk psfctkpitc kdelapptlh
    19021 ldfrdkltir vgeafaltgr ysgkpkpkvs wfkdeadvle ddrthikttp atlalekika
    19081 krsdsgkycv vvenstgsrk gfcqvnvvdr pgppvgpvsf devtkdymvi swkpplddgg
    19141 skitnyiiek kevgkdvwmp vtsasakttc kvskllegkd yifrihaenl ygisdplvsd
    19201 smkakdrfrv pdapdqpivt evtkdsalvt wnkphdggkp itnyilekre tmskrwarvt
    19261 kdpihpytkf rvpdllegcq yefrvsaene igigdpspps kpvfakdpia kpsppvnpea
    19321 idttcnsvdl twqpprhdgg skilgyivey qkvgdeewrr anhtpescpe tkykvtglrd
    19381 gqtykfrvla vnaagesdpa hvpepvlvkd rleppelild anmareqhik vgdtlrlsai
    19441 ikgvpfpkvt wkkedrdapt karidvtpvg skleirnaah edggiysltv enpagsktvs
    19501 vkvlvldkpg pprdlevsei rkdscyltwk eplddggsvi tnyvverrdv asaqwsplsa
    19561 tskkkshfak hlnegnqylf rvaaenqygr gpfvetpkpi kaldplhppg ppkdlhhvdv
    19621 dktevslvwn kpdrdggspi tgylveyqee gtqdwikfkt vtnlecvvtg lqqgktyrfr
    19681 vkaenivglg lpdttipiec qeklvppsve ldvklieglv vkagttvrfp aiirgvpvpt
    19741 akwttdgsei ktdehytvet dnfssvltik nclrrdtgey qitvsnaags ktvavhltvl
    19801 dvpgpptgpi nildvtpehm tiswqppkdd ggspvinyiv ekqdtrkdtw gvvssgsskt
    19861 klkiphlqkg ceyvfrvrae nkigvgppld stptvakhkf sppsppgkpv vtditenaat
    19921 vswtlpksdg gspitgyyme rrevtgkwvr vnktpiadlk frvtglyegn tyefrvfaen
    19981 laglskpsps sdpikacrpi kppgppinpk lkdksretad lvwtkplsdg gspilgyvve
    20041 cqkpgtaqwn rinkdelirq cafrvpglie gneyrfrika anivgegepr elaesviakd
    20101 ilhppeveld vtcrdvitvr vgqtirilar vkgrpepdit wtkegkvlvr ekrvdliqdl
    20161 prvelqikea vradhgkyii saknssghaq gsaivnvldr pgpcqnlkvt nvtkenctis
    20221 wenpldnggs eitnfiveyr kpnqkgwsiv asdvtkrlik anllanneyy frvcaenkvg
    20281 vgptietktp ilainpidrp gepenlhiad kgktfvylkw rrpdydggsp nlsyhverrl
    20341 kgsddwervh kgsikethym vdrcvenqiy efrvqtkneg gesdwvktee vvvkedlqkp
    20401 vldlklsgvl tvkagdtirl eagvrgkpfp evawtkdkda tdltrsprvk idtradsskf
    20461 sltkakrsdg gkyvvtatnt agsfvayatv nvldkpgpvr nlkivdvssd rctvcwdppe
    20521 ddggceiqny ilekcetkrm vwstysatvl tpgttvtrli egneyifrvr aenkigtgpp
    20581 teskpviakt kydkpgrpdp pevtkvskee mtvvwnppey dggksitgyf lekkekhstr
    20641 wvpvnksaip errmkvqnll pdheyqfrvk aeneigigep slpsrpvvak dpieppgppt
    20701 nfrvvdttkh sitlgwgkpv ydggapiigy vvemrpkiad aspdegwkrc naaaqlvrke
    20761 ftvtsldenq eyefrvcaqn qvgigrpael keaikpkeil eppeidldas mrklvivrag
    20821 cpirlfaivr grpapkvtwr kvgidnvvrk gqvdlvdtma flvipnstrd dsgkysltlv
    20881 npagekavfv nvrvldtpgp vsdlkvsdvt ktschvswap pendggsqvt hyivekread
    20941 rktwstvtpe vkktsfhvtn lvpgneyyfr vtavneygpg vptdvpkpvl asdplsepdp
    21001 prklevtemt knsatlawlp plrdggakid gyitsyreee qpadrwteys vvkdlslvvt
    21061 glkegkkykf rvaarnavgv slpreaegvy eakeqllppk ilmpeqitik agkklrieah
    21121 vygkphptck wkkgedevvt sshlavhkad sssiliikdv trkdsgyysl taenssgtdt
    21181 qkikvvvmda pgppqppfdi sdidadacsl swhipledgg snitnyivek cdvsrgdwvt
    21241 alasvtktsc rvgklipgqe yifrvraenr fgisepltsp kmvaqfpfgv psepknarvt
    21301 kvnkdcifva wdrpdsdggs piigylierk ernsllwvka ndtlvrstey pcaglvegle
    21361 ysfriyalnk agssppskpt eyvtarmpvd ppgkpevidv tkstvsliwa rpkhdggski
    21421 igyfveackl pgdkwvrcnt aphqipqeey tatgleekaq yqfraiarta vnisppseps
    21481 dpvtilaenv ppridlsvam kslltvkagt nvcldatvfg kpmptvswkk dgtllkpaeg
    21541 ikmamqrnlc tlelfsvnrk dsgdytitae nssgsksati klkvldkpgp pasvkinkmy
    21601 sdramlswep pledggseit nyivdkrets rpnwaqvsat vpitscsvek liegheyqfr
    21661 icaenkygvg dpvftepaia knpydppgrc dppvisnitk dhmtvswkpp addggspitg
    21721 yllekretqa vnwtkvnrkp iiertlkatg lqegteyefr vtainkagpg kpsdaskaay
    21781 ardpqyppgp pafpkvydtt rssvslswgk paydggspii gylvevkrad sdnwvrcnlp
    21841 qnlqktrfev tglmedtqyq frvyavnkig ysdpsdvpdk hypkdilipp egeldadlrk
    21901 tlilragvtm rlyvpvkgrp ppkitwskpn vnlrdrigld ikstdfdtfl rcenvnkyda
    21961 gkyiltlens cgkkeytivv kvldtpgppv nvtvkeiskd sayvtweppi idggspiiny
    22021 vvqkrdaerk swstvttecs ktsfrvpnle egksyffrvf aeneygigdp getrdavkas
    22081 qtpgpvvdlk vrsvsksscs igwkkphsdg gsriigyvvd flteenkwqr vmkslslqys
    22141 akdltegkey tfrvsaenen gegtpseitv varddvvapd ldlkglpdlc ylakensnfr
    22201 lkipikgkpa psvswkkged platdtrvsv essavnttli vydcqksdag kytitlknva
    22261 gtkegtisik vvgkpgiptg pikfdevtae amtlkwappk ddggseitny ilekrdsvnn
    22321 kwvtcasavq kttfrvtrlh egmeytfrvs aenkygvgeg lksepivarh pfdvpdappp
    22381 pnivdvrhds vsltwtdpkk tggspitgyh lefkernsll wkranktpir mrdfkvtglt
    22441 egleyefrvm ainlagvgkp slpsepvval dpidppgkpe vinitrnsvt liwtepkydg
    22501 ghkltgyive krdlpskswm kanhvnvpec aftvtdlveg gkyefrirak ntagaisaps
    22561 estetiickd eyeaptivld ptikdgltik agdtivlnai silgkplpks swskagkdir
    22621 psditqitst ptssmltiky atrkdageyt itatnpfgtk vehvkvtvld vpgppgpvei
    22681 snvsaekatl twtppledgg spiksyilek retsrllwtv vsediqscrh vatkliqgne
    22741 yifrvsavnh ygkgepvqse pvkmvdrfgp pgppekpevs nvtkntatvs wkrpvddggs
    22801 eitgyhverr ekkslrwvra iktpvsdlrc kvtglqegst yefrvsaenr agigppseas
    22861 dsvlmkdaay ppgppsnphv tdttkksasl awgkphydgg leitgyvveh qkvgdeawik
    22921 dttgtalrit qfvvpdlqtk ekynfrisai ndagvgepav ipdveivere mapdfeldae
    22981 lrrtlvvrag lsirifvpik grpapevtwt kdninlknra nientesftl liipecnryd
    23041 tgkfvmtien pagkksgfvn vrvldtpgpv lnlrptditk dsvtlhwdlp lidggsritn
    23101 yivekreatr ksystattkc hkctykvtgl segceyffrv maeneygige ptettepvka
    23161 seapsppdsl nimditkstv slawpkpkhd ggskitgyvi eaqrkgsdqw thittvkgle
    23221 cvvrnltege eytfqvmavn sagrsapres rpvivkeqtm lpeldlrgiy qklviakagd
    23281 nikveipvlg rpkptvtwkk gdqilkqtqr vnfettatst ilninecvrs dsgpypltar
    23341 nivgevgdvi tiqvhdipgp ptgpikfdev ssdfvtfswd ppendggvpi snyvvemrqt
    23401 dsttwvelat tvirttykat rlttgleyqf rvkaqnrygv gpgitsaciv anypfkvpgp
    23461 pgtpqvtavt kdsmtiswhe plsdggspil gyhverkern gilwqtvska lvpgnifkss
    23521 gltdgiayef rviaenmagk skpskpsepm laldpidppg kpvplnitrh tvtlkwakpe
    23581 ytggfkitsy ivekrdlpng rwlkanfsni leneftvsgl tedaayefrv iaknaagais
    23641 ppsepsdait crddveapki kvdvkfkdtv ilkageafrl eadvsgrppp tmewskdgke
    23701 legtakleik iadfstnlvn kdstrrdsga ytltatnpgg fakhifnvkv ldrpgppegp
    23761 lavtevtsek cvlswfppld dggakidhyi vqkretsrla wtnvasevqv tklkvtkllk
    23821 gneyifrvma vnkygvgepl esepvlavnp ygppdppknp evttitkdsm vvcwghpdsd
    23881 ggseiinyiv errdkagqrw ikcnkktltd lrykvsglte gheyefrima enaagisaps
    23941 ptspfykacd tvfkpgppgn prvldtsrss isiawnkpiy dggseitgym veialpeede
    24001 wqivtppagl katsytitgl tenqeykiri yamnseglge palvpgtpka edrmlppeie
    24061 ldadlrkvvt iracctlrlf vpikgrpape vkwardhges ldkasiests sytllivgnv
    24121 nrfdsgkyil tvenssgsks afvnvrvldt pgppqdlkvk evtktsvtlt wdpplldggs
    24181 kiknyivekr estrkaystv atnchktswk vdqlqegcsy yfrvlaeney giglpaetae
    24241 svkaserplp pgkitlmdvt rnsvslswek pehdggsril gyivemqtkg sdkwatcatv
    24301 kvteatitgl iqgeeysfrv saqnekgisd prqlsvpvia kdlvippafk llfntftvla
    24361 gedlkvdvpf igrptpavtw hkdnvplkqt trvnaesten nslltikdac redvghyvvk
    24421 ltnsageaie tlnvivldkp gpptgpvkmd evtadsitls wgppkydggs sinnyivekr
    24481 dtstttwqiv satvarttik acrlktgcey qfriaaenry gkstylnsep tvaqypfkvp
    24541 gppgtpvvtl ssrdsmevqw nepisdggsr vigyhlerke rnsilwvkln ktpipqtkfk
    24601 ttgleegvey efrvsaeniv gigkpskvse cyvardpcdp pgrpeaiivt rnsvtlqwkk
    24661 ptydggskit gyivekkelp egrwmkasft niidthfevt glvedhryef rviarnaagv
    24721 fsepsestga itardevdpp rismdpkykd tivvhagesf kvdadiygkp iptiqwikgd
    24781 qelsntarle ikstdfatsl svkdavrvds gnyilkaknv agersvtvnv kvldrpgppe
    24841 gpvvisgvta ekctlawkpp lqdggsdiin yiverretsr lvwtvvdanv qtlsckvtkl
    24901 legneytfri mavnkygvge plesepvvak npfvvpdapk apevttvtkd smivvwerpa
    24961 sdggseilgy vlekrdkegi rwtrchkrli gelrlrvtgl ienhdyefrv saenaaglse
    25021 psppsayqka cdpiykpgpp nnpkviditr ssvflswskp iydggceiqg yivekcdvsv
    25081 gewtmctppt ginktnieve kllekheynf ricainkagv gehadvpgpi iveekleapd
    25141 idldlelrki iniraggslr lfvpikgrpt pevkwgkvdg eirdaaiidv tssftslvld
    25201 nvnrydsgky tltlenssgt ksafvtvrvl dtpsppvnlk vteitkdsvs itwepplldg
    25261 gskiknyive kreatrksya avvtnchkns wkidqlqegc syyfrvtaen eygiglpaqt
    25321 adpikvaevp qppgkitvdd vtrnsvslsw tkpehdggsk iiqyivemqa khsekwseca
    25381 rvkslqavit nltqgeeylf rvvavnekgr sdprslavpi vakdlviepd vkpafssysv
    25441 qvgqdlkiev pisgrpkpti twtkdglplk qttrinvtds ldlttlsike thkddggqyg
    25501 itvanvvgqk tasieivtld kpdppkgpvk fddvsaesit lswnpplytg gcqitnyivq
    25561 krdttttvwd vvsatvartt lkvtklktgt eyqfrifaen rygqsfales dpivaqypyk
    25621 epgppgtpfa taiskdsmvi qwhepvnngg spvigyhler kernsilwtk vnktiihdtq
    25681 fkaqnleegi eyefrvyaen ivgvgkaskn secyvardpc dppgtpepim vkrneitlqw
    25741 tkpvydggsm itgyivekrd lpdgrwmkas ftnvietqft vsgltedqry efrviaknaa
    25801 gaiskpsdst gpitakdeve lprismdpkf rdtivvnage tfrleadvhg kplptiewlr
    25861 gdkeieesar ceikntdfka llivkdairi dggqyilras nvagsksfpv nvkvldrpgp
    25921 pegpvqvtgv tsekcsltws pplqdggsdi shyvvekret srlawtvvas evvtnslkvt
    25981 kllegneyvf rimavnkygv geplesapvl mknpfvlpgp pkslevtnia kdsmtvcwnr
    26041 pdsdggseii gyivekrdrs girwikcnkr ritdlrlrvt gltedheyef rvsaenaagv
    26101 gepspatvyy kacdpvfkpg pptnahivdt tknsitlawg kpiydggsei lgyvveicka
    26161 deeewqivtp qtglrvtrfe iskltehqey kirvcalnkv glgeatsvpg tvkpedklea
    26221 peldldselr kgivvraggs arihipfkgr ptpeitwsre egeftdkvqi ekgvnytqls
    26281 idncdrndag kyilklenss gsksafvtvk vldtpgppqn lavkevrkds aflvweppii
    26341 dggakvknyv idkrestrka yanvsskcsk tsfkvenlte gaiyyfrvma enefgvgvpv
    26401 etvdavkaae ppsppgkvtl tdvsqtsasl mwekpehdgg srvlgyvvem qpkgtekwsi
    26461 vaeskvcnav vtglssgqey qfrvkaynek gksdprvlgv pviakdltiq pslklpfnty
    26521 siqagedlki eipvigrprp niswvkdgep lkqttrvnve etatstvlhi kegnkddfgk
    26581 ytvtatnsag tatenlsviv lekpgppvgp vrfdevsadf vvisweppay tggcqisnyi
    26641 vekrdttttt whmvsatvar ttikitklkt gteyqfrifa enrygksapl dskavivqyp
    26701 fkepgppgtp fvtsiskdqm lvqwhepvnd ggtkiigyhl eqkeknsilw vklnktpiqd
    26761 tkfkttglde gleyefkvsa enivgigkps kvsecfvard pcdppgrpea ivitrnnvtl
    26821 kwkkpaydgg skitgyivek kdlpdgrwmk asftnvlete ftvsglvedq ryefrviarn
    26881 aagnfsepsd ssgaitarde idapnasldp kykdvivvha getfvleadi rgkpipdvvw
    26941 skdgkeleet aarmeiksti qkttlvvkdc irtdggqyil klsnvggtks ipitvkvldr
    27001 pgppegplkv tgvtaekcyl awnpplqdgg anishyiiek retsrlswtq vstevqalny
    27061 kvtkllpgne yifrvmavnk ygigeplesg pvtacnpykp pgppstpevs aitkdsmvvt
    27121 warpvddggt eiegyilekr dkegvrwtkc nkktltdlrl rvtglteghs yefrvaaena
    27181 agvgepseps vfyracdaly ppgppsnpkv tdtsrssvsl awskpiydgg apvkgyvvev
    27241 keaaadewtt ctpptglqgk qftvtklken teynfricai nsegvgepat lpgsvvaqer
    27301 ieppeielda dlrkvvvlra satlrlfvti kgrpepevkw ekaegiltdr aqievtssft
    27361 mlvidnvtrf dsgrynltle nnsgsktafv nvrvldspsa pvnltirevk kdsvtlswep
    27421 plidggakit nyivekrett rkayatitnn ctkttfrien lqegcsyyfr vlasneygig
    27481 lpaettepvk vsepplppgr vtlvdvtrnt atikwekpes dggskitgyv vemqtkgsek
    27541 wstctqvktl eatisgltag eeyvfrvaav nekgrsdprq lgvpviardi eikpsvelpf
    27601 htfnvkareq lkidvpfkgr pqatvnwrkd gqtlkettrv nvsssktvts lsikeasked
    27661 vgtyelcvsn sagsitvpit iivldrpgpp gpiridevsc dsitiswnpp eydggcqisn
    27721 yivekketts ttwhivsqav artsikivrl ttgseyqfrv caenrygkss ysessavvae
    27781 ypfsppgppg tpkvvhatks tmlvtwqvpv ndggsrvigy hleykerssi lwskankili
    27841 adtqmkvsgl deglmyeyrv yaeniagigk cskscepvpa rdpcdppgqp evtnitrksv
    27901 slkwskphyd ggakitgyiv errelpdgrw lkcnytniqe tyfevtelte dqryefrvfa
    27961 rnaadsvsep sestgpiivk ddvepprvmm dvkfrdvivv kagevlkina diagrplpvi
    28021 swakdgieie erarteiist dnhtlltvkd cirrdtgqyv ltlknvagtr svavnckvld
    28081 kpgppagple ingltaekcs lswgrpqedg gadidyyive kretshlawt icegelqmts
    28141 ckvtkllkgn eyifrvtgvn kygvgeples vaikaldpft vpspptslei tsvtkesmtl
    28201 cwsrpesdgg seisgyiier reknslrwvr vnkkpvydlr vkstglregc eyeyrvyaen
    28261 aaglslpset spliraedpv flpsppskpk ivdsgkttit iawvkplfdg gapitgytve
    28321 ykksddtdwk tsiqslrgte ytisglttga eyvfrvksvn kvgasdpsds sdpqiakere
    28381 eeplfdidse mrktlivkag asftmtvpfr grpvpnvlws kpdtdlrtra yvdttdsrts
    28441 ltienanrnd sgkytltiqn vlsaasltlv vkvldtpgpp tnitvqdvtk esavlswdvp
    28501 endggapvkn yhiekreask kawvsvtnnc nrlsykvtnl qegaiyyfrv sgenefgvgi
    28561 paetkegvki tekpsppekl gvtsiskdsv sltwlkpehd ggsrivhyvv ealekgqknw
    28621 vkcavaksth hvvsglrens eyffrvfaen qaglsdprel llpvlikeql eppeidmknf
    28681 pshtvyvrag snlkvdipis gkplpkvtls rdgvplkatm rfnteitaen ltinlkesvt
    28741 adagryeita anssgttkaf inivvldrpg pptgpvvisd iteesvtlkw eppkydggsq
    28801 vtnyillkre tstavwtevs atvartmmkv mklttgeeyq frikaenrfg isdhidsacv
    28861 tvklpyttpg ppstpwvtnv tresitvgwh epvsnggsav vgyhlemkdr nsilwqkank
    28921 lvirtthfkv ttisagliye frvyaenaag vgkpshpsep vlaidacepp rnvritdisk
    28981 nsvslswqqp afdggskitg yiverrdlpd grwtkasftn vtetqfiisg ltqnsqyefr
    29041 vfarnavgsi snpsevvgpi tcidsyggpv idlpleytev vkyragtsvk lragisgkpa
    29101 ptiewykddk elqtnalvcv enttdlasil ikdadrlnsg cyelklrnam gsasatirvq
    29161 ildkpgppgg piefktvtae kitllwrppa ddggakithy ivekretsrv vwsmvsehle
    29221 eciitttkii kgneyifrvr avnkygigep lesdsvvakn afvtpgppgi pevtkitkns
    29281 mtvvwsrpia dggsdisgyf lekrdkkslg wfkvlketir dtrqkvtglt ensdyqyrvc
    29341 avnaagqgpf sepsefykaa dpidppgppa kiriadstks sitlgwskpv ydggsavtgy
    29401 vveirqgeee ewttvstkge vrtteyvvsn lkpgvnyyfr vsavncagqg epiemnepvq
    29461 akdileapei dldvalrtsv iakagedvqv lipfkgrppp tvtwrkdekn lgsdarysie
    29521 ntdsssllti pqvtrndtgk yiltiengvg epksstvsvk vldtpaacqk lqvkhvsrgt
    29581 vtllwdppli dggspiinyv iekrdatkrt wsvvshkcss tsfklidlse ktpfffrvla
    29641 eneigigepc ettepvkaae vpapirdlsm kdstktsvil swtkpdfdgg sviteyvver
    29701 kgkgeqtwsh agisktceie vsqlkeqsvl efrvfaknek glsdpvtigp itvkeliitp
    29761 evdlsdipga qvtvrighnv hlelpykgkp kpsiswlkdg lplkesefvr fsktenkitl
    29821 siknakkehg gkytvildna vcriavpitv itlgppskpk gpirfdeika dsvilswdvp
    29881 edngggeitc ysiekretsq tnwkmvcssv arttfkvpnl vkdaeyqfrv raenrygvsq
    29941 plvssiivak hqfripgppg kpviynvtsd gmsltwdapv ydggsevtgf hvekkernsi
    30001 lwqkvntspi sgreyratgl vegldyqfrv yaensaglss psdpskftla vspvdppgtp
    30061 dyidvtreti tlkwnpplrd ggskivgysi ekrqgnerwv rcnftdvsec qytvtglspg
    30121 dryefriiar navgtispps qssgiimtrd envppivefg peyfdgliik sgeslrikal
    30181 vqgrpvprvt wfkdgveiek rmnmeitdvl gstslfvrda trdhrgvytv eaknasgsak
    30241 aeikvkvqdt pgkvvgpirf tnitgekmtl wwdaplndgc apithyiiek retsrlawal
    30301 iedkceaqsy taiklingne yqfrvsavnk fgvgrpldsd pvvaqiqytv pdapgipeps
    30361 nitgnsitlt warpesdggs eiqqyilerr ekkstrwvkv iskrpisetr fkvtgltegn
    30421 eyefhvmaen aagvgpasgi srlikcrepv nppgpptvvk vtdtskttvs lewskpvfdg
    30481 gmeiigyiie mckadlgdwh kvnaeacvkt rytvtdlqag eeykfrvsai ngagkgdsce
    30541 vtgtikavdr ltapeldida nfkqthvvra gasirlfiay qgrptptavw skpdsnlslr
    30601 adihttdsfs tltvencnrn dagkytltve nnsgsksitf tvkvldtpgp pgpitfkdvt
    30661 rgsatlmwda plldggarih hyvvekreas rrswqvisek ctrqifkvnd laegvpyyfr
    30721 vsavneygvg epyempepiv ateqpapprr ldvvdtskss avlawlkpdh dggsritgyl
    30781 lemrqkgsdf wveaghtkql tftverlvek teyefrvkak ndagysepre afssviikep
    30841 qieptadltg itnqlitcka gspftidvpi sgrpapkvtw kleemrlket drvsitttkd
    30901 rttltvkdsm rgdsgryflt lentagvktf svtvvvigrp gpvtgpievs svsaescvls
    30961 wgepkdgggt eitnyivekr esgttawqlv nssvkrtqik vthltkymey sfrvssenrf
    31021 gvskplesap iiaehpfvpp saptrpevyh vsanamsirw eepyhdggsk iigywvekke
    31081 rntilwvken kvpclecnyk vtglvegley qfrtyalnaa gvskaseasr pimaqnpvda
    31141 pgrpevtdvt rstvsliwsa paydggskvv gyiierkpvs evgdgrwlkc nytivsdnff
    31201 tvtalsegdt yefrvlakna agviskgses tgpvtcrdey appkaeldar lhgdlvtira
    31261 gsdlvldaav ggkpepkiiw tkgdkeldlc ekvslqytgk ratavikfcd rsdsgkytlt
    31321 vknasgtkav svmvkvldsp gpcgkltvsr vtqekctlaw slpqedggae ithyiverre
    31381 tsrlnwvive gecptlsyvv trliknneyi frvravnkyg pgvpvesepi varnsftips
    31441 ppgipeevgt gkehiiiqwt kpesdggnei snylvdkrek kslrwtrvnk dyvvydtrlk
    31501 vtslmegcdy qfrvtavnaa gnsepseasn fiscrepsyt pgppsaprvv dttkhsisla
    31561 wtkpmydggt divgyvlemq ekdtdqwyrv htnatirnte ftvpdlkmgq kysfrvaavn
    31621 vkgmseyses iaeiepveri eipdleladd lkktvtirag aslrlmvsvs grpppvitws
    31681 kqgidlasra iidttesysl livdkvnryd agkytieaen qsgkksatvl vkvydtpgpc
    31741 psvkvkevsr dsvtitweip tidggapvnn yivekreaam rafktvttkc sktlyrisgl
    31801 vegtmyyfrv lpeniygige pcetsdavlv sevplvpakl evvdvtkstv tlawekplyd
    31861 ggsrltgyvl eackagterw mkvvtlkptv lehtvtslne geqylfrira qnekgvsepr
    31921 etvtavtvqd lrvlptidls tmpqktihvp agrpvelvip iagrpppaas wffagsklre
    31981 servtvetht kvakltiret tirdtgeytl elknvtgtts etikviildk pgpptgpiki
    32041 deidatsiti sweppeldgg aplsgyvveq rdahrpgwlp vsesvtrstf kftrltegne
    32101 yvfrvaatnr fgigsylqse viecrssiri pgppetlqif dvsrdgmtlt wyppeddggs
    32161 qvtgyiverk evradrwvrv nkvpvtmtry rstgltegle yehrvtaina rgsgkpsrps
    32221 kpivamdpia ppgkpqnprv tdttrtsvsl awsvpedegg skvtgyliem qkvdqhewtk
    32281 cnttptkire ytlthlpqga eyrfrvlacn aggpgepaev pgtvkvteml eypdyelder
    32341 yqegifvrqg gvirltipik gkpfpickwt kegqdiskra miatsethte lvikeadrgd
    32401 sgtydlvlen kcgkkavyik vrvigspnsp egpleyddiq vrsvrvswrp paddggadil
    32461 gyilerrevp kaawytidsr vrgtslvvkg lkenveyhfr vsaenqfgis kplkseepvt
    32521 pktplnppep psnppevldv tkssvslsws rpkddggsrv tgyyierket stdkwvrhnk
    32581 tqitttmytv tglvpdaeyq friiaqndvg lsetspasep vvckdpfdkp sqpgeleils
    32641 iskdsvtlqw ekpecdggke ilgywveyrq sgdsawkksn kerikdkqft igglleatey
    32701 efrvfaenet glsrprrtam siktkltsge apgirkemkd vttklgeaaq lscqivgrpl
    32761 pdikwyrfgk eliqsrkykm ssdgrthtlt vmteeqedeg vytciatnev gevetsskll
    32821 lqatpqfhpg yplkekyyga vgstlrlhvm yigrpvpamt wfhgqkllqn senitiente
    32881 hythlvmknv qrkthagkyk vqlsnvfgtv daildveiqd kpdkptgpiv ieallknsav
    32941 iswkppaddg gswitnyvve kceakegaew qlvssaisvt tcrivnlten agyyfrvsaq
    33001 ntfgisdple vssvviiksp fekpgapgkp titavtkdsc vvawkppasd ggakirnyyl
    33061 ekrekkqnkw isvtteeire tvfsvknlie gleyefrvkc enlggesews eisepitpks
    33121 dvpiqaphfk eelrnlnvry qsnatlvckv tghpkpivkw yrqgkeiiad glkyriqefk
    33181 ggyhqliias vtdddatvyq vratnqggsv sgtaslevev pakihlpktl egmgavhalr
    33241 gevvsikipf sgkpdpvitw qkgqdlidnn ghyqvivtrs ftslvfpngv erkdagfyvv
    33301 caknrfgidq ktveldvadv pdpprgvkvs dvsrdsvnlt wtepasdggs kitnyivekc
    33361 attaerwlrv gqaretrytv inlfgktsyq frviaenkfg lskpsepsep titkedktra
    33421 mnydeevdet revsmtkash sstkelyeky miaedlgrge fgivhrcvet sskktymakf
    33481 vkvkgtdqvl vkkeisilni arhrnilhlh esfesmeelv mifefisgld iferintsaf
    33541 elnereivsy vhqvcealqf lhshnighfd irpeniiyqt rrsstikiie fgqarqlkpg
    33601 dnfrllftap eyyapevhqh dvvstatdmw slgtlvyvll sginpflaet nqqiienimn
    33661 aeytfdeeaf keisieamdf vdrllvkerk srmtasealq hpwlkqkier vstkvirtlk
    33721 hrryyhtlik kdlnmvvsaa riscggairs qkgvsvakvk vasieigpvs gqimhavgee
    33781 gghvkyvcki enydqstqvt wyfgvrqlen sekyeityed gvailyvkdi tklddgtyrc
    33841 kvvndygeds syaelfvkgv revydyycrr tmkkikrrtd tmrllerppe ftlplynkta
    33901 yvgenvrfgv titvhpephv twyksgqkik pgdndkkytf esdkglyqlt insvttddda
    33961 eytvvarnky gedsckaklt vtlhppptds tlrpmfkrll anaecqegqs vcfeirvsgi
    34021 ppptlkwekd gqplslgpni eiihegldyy alhirdtlpe dtgyyrvtat ntagstscqa
    34081 hlqverlryk kqefkskeeh erhvqkqidk tlrmaeilsg tesvpltqva kealreaavl
    34141 ykpavstktv kgefrleiee kkeerklrmp ydvpeprkyk qttieedqri kqfvpmsdmk
    34201 wykkirdqye mpgkldrvvq krpkrirlsr weqfyvmplp ritdqyrpkw ripklsqddl
    34261 eivrparrrt pspdydfyyr prrrslgdis deelllpidd ylamkrteee rlrleeelel
    34321 gfsasppsrs pphfelsslr ysspqahvkv eetrkdfrys tyhiptkaea stsyaelrer
    34381 haqaayrqpk qrqrimaere deellrpvtt tqhlseykse ldfmskeeks rkksrrqrev
    34441 teiteieeey eiskhaqres sssasrllrr rrslsptyie lmrpvselir srpqpaeeye
    34501 ddterrsptp ertrprspsp vsserslsrf ersarfdifs ryesmkaalk tqktserkye
    34561 vlsqqpftld hapritlrmr shrvpcgqnt rfilnvqskp taevkwyhng velqesskih
    34621 ytntsgvltl eildchtdds gtyravctny kgeasdyatl dvtggdytty asqrrdeevp
    34681 rsvfpeltrt eayavssfkk tsemeasssv revksqmtet reslssyehs asaemksaal
    34741 eeksleekst trkikttlaa riltkprsmt vyegesarfs cdtdgepvpt vtwlrkgqvl
    34801 stsarhqvtt tkykstfeis svqasdegny svvvensegk qeaeftltiq karvtekavt
    34861 spprvkspep rvkspeavks pkrvkspeps hpkavsptet kptptekvqh lpvsappkit
    34921 qflkaeaske iakltcvves svlrakevtw ykdgkklken ghfqfhysad gtyelkinnl
    34981 tesdqgeyvc eisgeggtsk tnlqfmgqaf ksihekvski setkksdqkt testvtrkte
    35041 pkapepissk pvivtglqdt tvssdsvakf avkatgeprp taiwtkdgka itqggkykls
    35101 edkggfflei hktdtsdsgl ytctvknsag svssscklti kaikdteaqk vstqktseit
    35161 pqkkavvqee isqkalrsee ikmseaksqe klalkeeask vliseevkks aatsleksiv
    35221 heeitktsqa seevrthaei kafstqmsin egqrlvlkan iagatdvkwv lngveltnse
    35281 eyrygvsgsd qtltikqash rdegiltcis ktkegivkcq ydltlskels dapafisqpr
    35341 sqninegqnv lftceisgep speiewfknn lpisissnvs isrsrnvysl eirnasvsds
    35401 gkytikaknf rgqcsatasl mvlplveeps revvlrtsgd tslqgsfssq svqmsaskqe
    35461 asfssfssss assmtemkfa smsaqsmssm qesfvemsss sfmgisnmtq lesstskmlk
    35521 agirgippki ealpsdisid egkvltvaca ftgeptpevt wscggrkihs qeqgrfhien
    35581 tddlttliim dvqkqdggly tlslgnefgs dsatvnihir si
//
LOCUS       XP_054204528             795 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 5 isoform X2 [Homo sapiens].
ACCESSION   XP_054204528
VERSION     XP_054204528.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348553.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..795
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..795
                     /product="TBC1 domain family member 5 isoform X2"
                     /calculated_mol_wt=88874
     CDS             1..795
                     /gene="TBC1D5"
                     /coded_by="XM_054348553.1:370..2757"
                     /db_xref="GeneID:9779"
                     /db_xref="HGNC:HGNC:19166"
                     /db_xref="MIM:615740"
ORIGIN      
        1 myhslsetrh plqpeeqevg idplssysnk sggdsnkngr rtsstldseg tfnsyrkewe
       61 elfvnnnyla tirqkgingq lrssrfrsic wklflcvlpq dksqwisrie elrawysnik
      121 eihitnprkv vgqqdlminn plsqdegslw nkffqdkelr smieqdvkrt fpemqffqqe
      181 nvrkiltdvl fcyareneql lykqgmhell apivfvlhcd hqaflhases aqpseemktv
      241 lnpeylehda yavfsqlmet aepwfstfeh dgqkgketlm tpipfarpqd lgptiaivtk
      301 vnqiqdhllk khdielymhl nrleiapqiy glrwvrllfg refplqdllv vwdalfadgl
      361 slglvdyifv amllyirdal issnyqtclg llmhypfigd vhslilkalf lrdpkrnprp
      421 vtyqfhpnld yykargadlm nksrtnakga plninkvsns linfgrklis pamapgsagg
      481 pvpggnssss ssvviptrts aeapshhlqq qqqqqrlmks esmpvqlnkg lssknisssp
      541 sveslpggre ftgsppssat kkdsffsnis rsrshsktmg rkeseeelea qisflqgqln
      601 dldamckyca kvmdthlvni qdvilqenle kedqilvsla glkqikdilk gslrfnqsql
      661 eaeeneqiti adnhycssgq gqgrgqgqsv qmsgaikqas setpgctdrg nsddfilisk
      721 dddgssargs fsgqaqplrt lrstsgksqa pvcsplvfsd plmgpasass snpssspddd
      781 sskdsgftiv spldi
//
LOCUS       XP_054204684             846 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM13A isoform X10 [Homo sapiens].
ACCESSION   XP_054204684
VERSION     XP_054204684.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348709.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..846
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..846
                     /product="protein FAM13A isoform X10"
                     /calculated_mol_wt=97175
     CDS             1..846
                     /gene="FAM13A"
                     /gene_synonym="ARHGAP48; FAM13A1"
                     /coded_by="XM_054348709.1:16..2556"
                     /db_xref="GeneID:10144"
                     /db_xref="HGNC:HGNC:19367"
                     /db_xref="MIM:613299"
ORIGIN      
        1 msyfflqstw avlrkhifat flkwsvppgl egmkeqdlcn kimakileny ntlfeveyte
       61 ndhlrcenla rliivkevyy knslpilltr glerdmpkpp pktkipksrs egsiqahrvl
      121 qpelsdgipq lslrlsyrka cledmnsaeg aisaklvpss qederplspf ylsahvpqvs
      181 nvsatgelle rtirsaveqh lfdvnnsggq ssedsesgtl sassatsarq rrrqskeqde
      241 vrhgrdkgli nkentpsgfn hlddcilntq evekvhkntf gcagerskpk rqksstklse
      301 lhdnqdglvn meslnstrsh ertgpddfew msderkgnek dgghtqhfes ptmkiqehps
      361 lsdtkqqrnq dagdqeesfv sevpqsdlta lcdeknweep ipafsswqre nsdsdeahls
      421 pqagrlirql ldedsdpmls prfyaygqsr qylddtevpp sppnshsfmr rrssslgsyd
      481 deqedltpaq ltrriqslkk kirkfedrfe eekkyrpshs dkaanpevlk wtndlakfrr
      541 qlkesklkis eedltprmrq rsntlpksfg sqlekedekk qelvdkaikp sveatlesiq
      601 rklqekraes srpedikdmt kdqianekva lqkallyyes ihgrpvtkne rqvmkplydr
      661 yrlvkqilsr antipiigsp sskrrspllq piiegetasf fkeikeeeeg seddsnvkpd
      721 fmvtlktdfs arcfldqfed dadgfispmd dkipskcsqd tglsnlhaas ipellehlqe
      781 mreekkrirk klrdfednff rqngrnvqke drtpmaeeys eykhikaklr llevliskrd
      841 tdsksm
//
LOCUS       XP_054205764             446 aa            linear   PRI 20-MAR-2023
DEFINITION  sperm-tail PG-rich repeat-containing protein 2 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054205764
VERSION     XP_054205764.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349789.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..446
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..446
                     /product="sperm-tail PG-rich repeat-containing protein 2
                     isoform X4"
                     /calculated_mol_wt=49006
     CDS             1..446
                     /gene="STPG2"
                     /gene_synonym="C4orf37"
                     /coded_by="XM_054349789.1:324..1664"
                     /db_xref="GeneID:285555"
                     /db_xref="HGNC:HGNC:28712"
ORIGIN      
        1 mydraprllk laeggsteah vgpgsyqvpf lkqqatgsna pflsltares tftiassiek
       61 avpgpghynv seaqkisrsp tltrsvdvps ipscgksygy hinddgsiik cfppacdstl
      121 gpayhkpqfd vsnatlkykg ihfgnssgrq elpkksgpgp gqydivqkkt syyenvnvkr
      181 dqqqnycsfi prlyeiivlq ekkkrflpmk sitpapgtyn eprtalkslk ktsglknipf
      241 gqsavrftqd irteempgpg fynvlnntii asvrnicskk qkksafgssv prtffsvqke
      301 acatpgpady qefwhsqgvg isdelpnltn kyaaflsrak rtmkvpdmvi papgsydvhk
      361 syemsqvkhk ympprslvak rkhasflsat prclekvtdg pgpaaynpvl rkscpiplfv
      421 kaskrfeesk eitpgpatye vsqfgg
//
LOCUS       XP_054205800             903 aa            linear   PRI 20-MAR-2023
DEFINITION  glutamate receptor ionotropic, delta-2 isoform X8 [Homo sapiens].
ACCESSION   XP_054205800
VERSION     XP_054205800.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349825.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..903
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..903
                     /product="glutamate receptor ionotropic, delta-2 isoform
                     X8"
                     /calculated_mol_wt=101752
     CDS             1..903
                     /gene="GRID2"
                     /gene_synonym="GluD2; SCAR18"
                     /coded_by="XM_054349825.1:6412..9123"
                     /db_xref="GeneID:2895"
                     /db_xref="HGNC:HGNC:4576"
                     /db_xref="MIM:602368"
ORIGIN      
        1 mtlqgmlwda ivgfvpvqcp hdddfvsrgg lyhvqgssdl vtqvlwpsrv sqrvfcsvmv
       61 vlrsgvtaat rmplretrgt nttaspatal pqktcelmnq gilalvssig ctsagslqsl
      121 adamhiphlf iqrstagtpr sgcgltrsnr nddytlsvrp pvylhdvilr vvteyawqkf
      181 iifydseydi rgiqefldkv sqqgmdvalq kvenninkmi ttlfdtmrie elnryrdtlr
      241 railvmnpat aksfitevve tnlvafdchw iiineeindv dvqelvrrsi grltiirqtf
      301 pvpqnisqrc frgnhrisst lcdpkdpfaq nmeisnlyiy dtvlllanaf hkkledrkwh
      361 smaslscirk nskpwqggrs mletikkggv sgltgelefg enggnpnvhf eilgtnygee
      421 lgrgvrkner irpqgstgki wpqlgcwnpv tglngsltdk klennmrgvv lrvvtvleep
      481 fvmvsenvlg kpkkyqgfsi dvldalsnyl gfnyeiyvap dhkygspqed gtwnglvgel
      541 vfkradigis altitpdren vvdfttrymd ysvgvllrra ektvdmfacl apfdlslwac
      601 iagtvllvgl lvyllnwlnp prlqmgsmts ttlynsmwfv ygsfvqqgge vpyttlatrm
      661 mmgawwlfal ivissytanl aafltitrie ssiqslqdls kqteipygtv ldsavyehvr
      721 mkglnpferd smysqmwrmi nrsngsennv lesqagiqkv kygnyafvwd aavleyvain
      781 dpdcsfytig ntvadrgygi alqhgspyrd vfsqstdvgs lncfflwsfl vttpcilipw
      841 tygekesqer srtwrssvcq llslytcatl iyhpkplakf rkylhlfhff iairkkrssl
      901 svn
//
LOCUS       XP_054207862             505 aa            linear   PRI 20-MAR-2023
DEFINITION  poly(A) RNA polymerase GLD2 isoform X2 [Homo sapiens].
ACCESSION   XP_054207862
VERSION     XP_054207862.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351887.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..505
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..505
                     /product="poly(A) RNA polymerase GLD2 isoform X2"
                     /calculated_mol_wt=58062
     CDS             1..505
                     /gene="TENT2"
                     /gene_synonym="APD4; GLD2; PAPD4; TUT2"
                     /coded_by="XM_054351887.1:762..2279"
                     /db_xref="GeneID:167153"
                     /db_xref="HGNC:HGNC:26776"
                     /db_xref="MIM:614121"
ORIGIN      
        1 mfpnsilgrp pftpnhqqhn nfftlsptvy shqqlidaqf nfqnadlsra vslqqltygn
       61 vspiqtsasp lfrgrkrlsd eknlpldgkr qrfhsphqep tvvnqivpls gerrysmppl
      121 fhthyvpdiv rcvppfreia flepreitlp eakdklsqqi lelfetcqqq isdlkkkelc
      181 rtqlqreiql lfpqsrlflv gsslngfgtr ssdgdlclvv keepvnqkte arhiltlvhk
      241 hfctrlcksd mpqvcmspdv tllkmpltls sagyierpql irakvpivkf rdkvscvefd
      301 lnvnnivgir ntfllrtyay lenrvrplvl vikkwashhq indasrgtls syslvlmvlh
      361 ylqtlpepil pslqkiypes fspaiqlhlv hqapcnvppy lsknesnlgd lllgflkyya
      421 tefdwnsqmi svreakaipr pdgiewrnky icveepfdgt ntaravhekq kfdmikdqfl
      481 kswhrlknkr dlnsilpvra avlkr
//
LOCUS       XP_054210605             247 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF182 isoform X1 [Homo sapiens].
ACCESSION   XP_054210605
VERSION     XP_054210605.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354630.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 19% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..247
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..247
                     /product="E3 ubiquitin-protein ligase RNF182 isoform X1"
                     /calculated_mol_wt=27271
     CDS             1..247
                     /gene="RNF182"
                     /coded_by="XM_054354630.1:712..1455"
                     /db_xref="GeneID:221687"
                     /db_xref="HGNC:HGNC:28522"
ORIGIN      
        1 masqppedta esqasdelec kicynrynlk qrkpkvlecc hrvcakclyk iidfgdspqg
       61 vivcpfcrfe tclpddevss lpddnnilvn ltcggkgkkc lpenptelll tpkrlaslvs
      121 pshtssnclv itimevqres spslsstpvv efyrpasfds vttvshnwtv wnctsllfqt
      181 sirvlvwllg llyfsslplg iyllvskkvt lgvvfvslvp sslvilmvyg fcqcvchefl
      241 dcmapps
//
LOCUS       XP_054213000             467 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA-binding protein Ikaros isoform X18 [Homo sapiens].
ACCESSION   XP_054213000
VERSION     XP_054213000.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357025.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..467
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..467
                     /product="DNA-binding protein Ikaros isoform X18"
                     /calculated_mol_wt=51471
     CDS             1..467
                     /gene="IKZF1"
                     /gene_synonym="CVID13; Hs.54452; IK1; IKAROS; LyF-1; LYF1;
                     PPP1R92; PRO0758; ZNFN1A1"
                     /coded_by="XM_054357025.1:391..1794"
                     /db_xref="GeneID:10320"
                     /db_xref="HGNC:HGNC:13176"
                     /db_xref="MIM:603023"
ORIGIN      
        1 mdadegqdms qvsgkesppv sdtpdegdep mpipedlstt sggqqssksd rvvasnvkve
       61 tqsdeengra cemngeecae dlrmldasge kmngshrdqg ssalsgvggi rlpngklkcd
      121 icgiicigpn vlmvhkrsht gerpfqcnqc gasftqkgnl lrhiklhsge kpfkchlcny
      181 acrrrdaltg hlrthsvike etnhsemaed lckigsersl vldrlasnva krdkglsdtp
      241 ydssasyeke nemmkshvmd qainnainyl gaeslrplvq tppggsevvp vispmyqlhk
      301 plaegtprsn hsaqdsaven llllskaklv psereaspsn scqdstdtes nneeqrsgli
      361 yltnhiapha rnglslkeeh raydllraas ensqdalrvv stsgeqmkvy kcehcrvlfl
      421 dhvmytihmg chgfrdpfec nmcgyhsqdr yefsshitrg ehrfhms
//
LOCUS       XP_054214776             325 aa            linear   PRI 20-MAR-2023
DEFINITION  polypeptide N-acetylgalactosaminyltransferase 17 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054214776
VERSION     XP_054214776.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358801.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..325
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..325
                     /product="polypeptide N-acetylgalactosaminyltransferase 17
                     isoform X3"
                     /calculated_mol_wt=36584
     CDS             1..325
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /coded_by="XM_054358801.1:660..1637"
                     /db_xref="GeneID:64409"
                     /db_xref="HGNC:HGNC:16347"
                     /db_xref="MIM:615137"
ORIGIN      
        1 maslrrvkvl lvlnliavag fvlflakcrp iavrsgdafh eirpraevan lsahsaspiq
       61 davlkrlsll edivyrqlng lskslglieg yggrgkgglp atlspaeeek akgphekygy
      121 nsylsekisl drsipdyrpt kckelkyskd lpqisiifif vnealsvilr svhsavnhtp
      181 thllkeiilv ddnsdeeelk vpleeyvhkr ypglvkvvrn qkreglirar iegwkvatgq
      241 vtgffdahve ftagwaepvl sriqenrkrv ilpsidnikq dnfevqryen sahgyswelw
      301 cmyisppkdw wdagdpslpi sdrfs
//
LOCUS       XP_054215092             202 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ABHD11 isoform X1 [Homo sapiens].
ACCESSION   XP_054215092
VERSION     XP_054215092.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359117.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..202
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..202
                     /product="protein ABHD11 isoform X1"
                     /calculated_mol_wt=22473
     CDS             1..202
                     /gene="ABHD11"
                     /gene_synonym="PP1226; WBSCR21"
                     /coded_by="XM_054359117.1:682..1290"
                     /db_xref="GeneID:83451"
                     /db_xref="HGNC:HGNC:16407"
ORIGIN      
        1 msyeimsqdl qdllpqlglv pcvvvghsmg gktamllalq rpelverlia vdispvestg
       61 vshfatyvaa mrainiadel prsrarklad eqlssviqdm avrqhlltnl vevdgrfvwr
      121 vnldaltqhl dkilafpqrq esylgptlfl lggnsqfvhp shhpeimrlf praqmqtvpn
      181 aghwihadrp qdfiaairgf lv
//
LOCUS       XP_054217142            1569 aa            linear   PRI 20-MAR-2023
DEFINITION  maestro heat-like repeat-containing protein family member 1 isoform
            X9 [Homo sapiens].
ACCESSION   XP_054217142
VERSION     XP_054217142.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361167.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1569
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1569
                     /product="maestro heat-like repeat-containing protein
                     family member 1 isoform X9"
                     /calculated_mol_wt=173314
     CDS             1..1569
                     /gene="MROH1"
                     /gene_synonym="HEATR7A"
                     /coded_by="XM_054361167.1:118..4827"
                     /db_xref="GeneID:727957"
                     /db_xref="HGNC:HGNC:26958"
ORIGIN      
        1 mtessmkkla stlldaitdk dplvqeqvcs alcslgevrp vetlraceey lrqhdklahp
       61 yraavlrame rvlssrasel dkdtastiil lassemtktk dlvwdwqqaa sgvlvavgrq
      121 fiskvmeell rrlhpgtlph cavlhtlasl svanafgvvp flpsvlssll pvlgvakqdt
      181 vrvafcsalq rfsegaleyl anldrapdpt vrkdafatdi fsaydvlfhq wlqsreaklr
      241 lavvealgpm shllpserle eqlpkllpgi lalykkhaet fylskslgqi leaavsvgsr
      301 tletqldall aalhsqicvp vesssplvms nqkevlrcft vlacsspdrl lafllprldt
      361 snertrvgtl qvvrhvinsa aaqmedkkpf ilssmrlpll dtnskvkrav vqvisamahh
      421 gyleqpggea mieyivqqca lppeqepekp gpgskdpkad svraisvrtl ylvsttvdrm
      481 shvlwpyllq fltpvrftga ltplcrslvh laqkrqeaga dafliqydah aslpspyavt
      541 grllvvsssp ylgdgrgaaa lrllsvlhpn ihpllgqhwe ttvplllgyl dehteetlpq
      601 eeweekllmf lrdtlaiisd nawicqlsle lcrqlpcyde apqeknflyk cigttlgaas
      661 skevvrkhlq elletaryqe eaereglacc fgicaishle dtlaqledfv rsevfrksig
      721 ilnifkdrse nevekvksal ilcyghvaar aprelvlakv esdilrnicq hfstkdpalk
      781 lclvqsvcmv sraicsstqa gsfhftrkae lvaqmmefir aeppdslrtp irkkamltct
      841 ylvsvepald eqaradvihg clhsimallp epkeedggcq kslyletlha ledlltsllq
      901 rnmtpqglqi miehlspwik sprgherara lglsalllry flehlrvsal vpfhnlglli
      961 glfsprcadl wpatrqeavd cvysllylql gyegfsrdyr ddvaerllsl kdglvhpdpa
     1021 ilfhtchsvg qiiakrlppd qlisllltmf ealgdpeknc sraatvminc llqerggvlq
     1081 ekvpeivsvl rsklqeaqge hvlpaaqhsv yllatqhcaa vvssllgspl pldshtcmlw
     1141 ralaveprla aqvlglllek msrdvpfkes rafllgrtpd rvatllplsa tcalfevmst
     1201 paagpavlel ypqlfvvlll rvsctvgvql prnlqaqerr gaspalatrn lepcssavdt
     1261 lrsmllrsgs edvvqrmdle ggwellrtsa gheegatrla ramaehagpr lplvlktlac
     1321 thssayenqr vtttaflael lnsnvandlm lldsllesla arqkdtcasv rrlvlrglan
     1381 lasgcpdkek mefrtasirl fghlnkvchg dcedvfldqv vgglaplllh lqdpqatvas
     1441 acrfalrmcg pnlaceelsa afqkhlqegr alhfgeflnt tckhlmhhfp dllgrllttc
     1501 lfyfksswen vraaaplftg flvlhseprq qpqvdldqli aalqillkdp apevrtraae
     1561 algrlvkla
//
LOCUS       XP_054217278             367 aa            linear   PRI 20-MAR-2023
DEFINITION  dendritic cell-specific transmembrane protein isoform X2 [Homo
            sapiens].
ACCESSION   XP_054217278
VERSION     XP_054217278.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361303.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..367
                     /product="dendritic cell-specific transmembrane protein
                     isoform X2"
                     /calculated_mol_wt=41444
     CDS             1..367
                     /gene="DCSTAMP"
                     /gene_synonym="FIND; hDC-STAMP; TM7SF4"
                     /coded_by="XM_054361303.1:407..1510"
                     /db_xref="GeneID:81501"
                     /db_xref="HGNC:HGNC:18549"
                     /db_xref="MIM:605933"
ORIGIN      
        1 mgiwtsgtdi flslweiyvs prspgwmdfi qhlgvcclva lisvgllsva acwflpsiia
       61 aaaswiitcv llccskharc fillvflscg lregrnalia agtgivilgh venifhnfkg
      121 lldgmtcnlr aksfsihfpl lkkyieaiqw iyglatplsv fddlvswnqt lavslfspsh
      181 vleaqlndsk gevlsvlyqm atttevlssl gqkllafagl slvllgtglf mkrflgpcgw
      241 kyeniyitrq fvqfdererh qqrpcvlpln keerrkyvii ptfwptpker knlglfflpi
      301 lihlciwvlf aavdyllyrl ifsvskqfqs lpgfevhlkl hgeihfwlpv lkmirkkqmd
      361 masadks
//
LOCUS       XP_054217786             335 aa            linear   PRI 20-MAR-2023
DEFINITION  NADPH oxidase activator 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054217786
VERSION     XP_054217786.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361811.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..335
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..335
                     /product="NADPH oxidase activator 1 isoform X3"
                     /calculated_mol_wt=35380
     CDS             1..335
                     /gene="NOXA1"
                     /gene_synonym="NY-CO-31; p51NOX; SDCCAG31"
                     /coded_by="XM_054361811.1:2146..3153"
                     /db_xref="GeneID:10811"
                     /db_xref="HGNC:HGNC:10668"
                     /db_xref="MIM:611255"
ORIGIN      
        1 mskwpegsln gldsaldqvq rrgslpprqv prgevfrphr whlkhlepvd flgkakvvas
       61 aipddqgwgv rpqqpqgpga nhdarslimd spragthqgp ldaetevgad rctstayqeq
      121 rpqveqvgkq aplspgllam ggpgpgpced pagaggagag gseplvtvtv qcaftvalra
      181 rrgadlsslr allgqalphq aqlgqlsyla pgedghwvpi peeeslqraw qdaaacprgl
      241 qlqcrgaggr pvlyqvvaqh sysaqgpedl gfrqgdtvdv lceepdvpla vdqawleghc
      301 dgrigifpkc fvvpagprms gapgrlprsq qgdqp
//
LOCUS       XP_054218510            1209 aa            linear   PRI 20-MAR-2023
DEFINITION  FK506-binding protein 15 isoform X1 [Homo sapiens].
ACCESSION   XP_054218510
VERSION     XP_054218510.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362535.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1209
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1209
                     /product="FK506-binding protein 15 isoform X1"
                     /calculated_mol_wt=132337
     CDS             1..1209
                     /gene="FKBP15"
                     /gene_synonym="FKBP133; KIAA0674; PPP1R76"
                     /coded_by="XM_054362535.1:35..3664"
                     /db_xref="GeneID:23307"
                     /db_xref="HGNC:HGNC:23397"
                     /db_xref="MIM:617398"
ORIGIN      
        1 mfgagdeddt dflspsggar laslfgldqa aaghgneffq ytapkqpkkg qgtaatgnqa
       61 tpktapatms tptilvatav hayrytngqy vkqgkfgaav lgnhtareyr illyisqqqp
      121 vtvarihvnf elmvrpnnys tfyddqrqnw simfesekaa vefnkqvcia kcnstsslda
      181 vlsqdlivad gpavevgdsl evaytgwlfq nhvlgqvfds tankdkllrl klgsgkvikg
      241 wedgmlgmkk ggkrllivpp acavgsegvi gwtqatdsil vfevevrrvk fardsgsdgh
      301 svssrdsaap spipgadnls adpvvsppts ipfksgepal rtksnslseq laintspdav
      361 kaklisrmak mgqpmlpilp pqldsndsei edvntlqggg qpvvtpsvqp slhpahpalp
      421 qmtsqapqps vtglqapsaa lmqvssldsh savsgnaqsf qpyagmqaya ypqasavtsq
      481 lqpvrplypa plsqpphfqg sgdmasflmt earqhnteir mavskvadkm dhlmtkveel
      541 qkhsagnsml ipsmsvtmet smimsniqri iqenerlkqe ileksnriee qndkiselie
      601 rnqryveqsn lmmekrnnsl qtatentqak vteelaaata qvshlqlkmt ahqkketelq
      661 mqlteslket dllrgqltkv qaklselqet seqaqskfks ekqnrkqlel kvtsleeelt
      721 dlrvekesle knlserkkks aqersqaeee ideirksyqe eldklrqllk ktrvstdqaa
      781 aeqlslvqae lqtqweakce hllasakdeh lqqyqevcaq rdayqqklvq lqekclalqa
      841 qitaltkqne qhikeleknk sqmsgveaaa sdpsekvkki mnqvfqslrr efeleesyng
      901 rtilgtimnt ikmvtlqlln qqeqekeess seeeeekaee rprrpsqeqs asassgqpqa
      961 plnrerpesp mvpseqvvee avplppqalt tsqdghrrkg dseaealsei kdgslppels
     1021 cipshrvlgp ptsippeplg pvsmdsecee slaaspmaak pdnpsgkvcv revapdgplq
     1081 esstrlslts dpeegdplal gpespgepqp pqlkkddvts stgphkelss teagstvaga
     1141 alrpshhsqr sslsgdeede lfkgatlkal rpkaqpeeed edevsmkgrp pptplfgddd
     1201 ddddidwlg
//
LOCUS       XP_047301425             304 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-1(I) chain [Homo sapiens].
ACCESSION   XP_047301425
VERSION     XP_047301425.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047445469.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..304
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..304
                     /product="collagen alpha-1(I) chain"
                     /calculated_mol_wt=31376
     Region          <99..300
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     CDS             1..304
                     /gene="LOC124906817"
                     /coded_by="XM_047445469.1:1..915"
                     /db_xref="GeneID:124906817"
ORIGIN      
        1 mlmraggwgr gagggsravg gmwgwgqplt kpdlyiqnqp ghsgpqrarr grrgrwgrrg
       61 rwgrgacapg krphregrgq srgpgrggap gsqrraptrp sagvaawdar lvlgtpprpp
      121 daaargarvr paqvgrgvrp sadlagdtpp aparsagace agegarpglp ptspgrkgrs
      181 prvpeprsrr gcaaalwppp alrlgpgrap araprtppcp gpprapslpa spsapgrrgg
      241 rrgrrrghvg fassgagrgg rlrgagpqcp evrgalgqrk rqvplsdswl lqplegppde
      301 glek
//
LOCUS       XP_054182518             379 aa            linear   PRI 20-MAR-2023
DEFINITION  RIB43A-like with coiled-coils protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054182518
VERSION     XP_054182518.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326543.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..379
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..379
                     /product="RIB43A-like with coiled-coils protein 1 isoform
                     X1"
                     /calculated_mol_wt=43884
     CDS             1..379
                     /gene="RIBC1"
                     /gene_synonym="2610028I09Rik"
                     /coded_by="XM_054326543.1:523..1662"
                     /db_xref="GeneID:158787"
                     /db_xref="HGNC:HGNC:26537"
ORIGIN      
        1 mynikqstdt keaaaiearr nrekerqnrf fnvrnrvmgv dvqalnnqvg drkrreaaer
       61 skeaaygtsq vqydvvvqml ekeeadrtrq lakkvqefre qkqqlkngre fslwdpgqvw
      121 kglptylsys ntypgpaslq yfsgedldrd trlrmqqgqf rynlerqqqe qqqakvdeny
      181 tdalsnqlrl amdaqathla rleescraam mcamananka qaavqagrqr cerqreqkan
      241 laeiqhqsts dlltenpqva qhpmapyrvl pycwkgmtpe qqaairkeqe vqrskkqahr
      301 qaektldtew ksqtmssaqa vleleeqere lcavfqrglg sfnqqlaneq kaqqdylnsv
      361 iytnqptaqy hqqfntssr
//
LOCUS       NP_001397805             451 aa            linear   PRI 24-MAR-2023
DEFINITION  Fanconi anemia group E protein isoform 2 [Homo sapiens].
ACCESSION   NP_001397805 XP_005248945
VERSION     NP_001397805.1
DBSOURCE    REFSEQ: accession NM_001410876.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 451)
  AUTHORS   Takahashi J, Masuda T, Kitagawa A, Tobo T, Nakano Y, Abe T, Ando Y,
            Kosai K, Kobayashi Y, Matsumoto Y, Yoshizumi T, Mori M and Mimori
            K.
  TITLE     Fanconi Anemia Complementation Group E, a DNA Repair-Related Gene,
            Is a Potential Marker of Poor Prognosis in Hepatocellular Carcinoma
  JOURNAL   Oncology 100 (2), 101-113 (2022)
   PUBMED   34724663
  REMARK    GeneRIF: Fanconi Anemia Complementation Group E, a DNA
            Repair-Related Gene, Is a Potential Marker of Poor Prognosis in
            Hepatocellular Carcinoma.
REFERENCE   2  (residues 1 to 451)
  AUTHORS   Lin B, Li H, Zhang T, Ye X, Yang H and Shen Y.
  TITLE     Comprehensive analysis of macrophage-related multigene signature in
            the tumor microenvironment of head and neck squamous cancer
  JOURNAL   Aging (Albany NY) 13 (4), 5718-5747 (2021)
   PUBMED   33592580
  REMARK    GeneRIF: Comprehensive analysis of macrophage-related multigene
            signature in the tumor microenvironment of head and neck squamous
            cancer.
REFERENCE   3  (residues 1 to 451)
  AUTHORS   Bouffard F, Plourde K, Belanger S, Ouellette G, Labrie Y and
            Durocher F.
  TITLE     Analysis of a FANCE Splice Isoform in Regard to DNA Repair
  JOURNAL   J Mol Biol 427 (19), 3056-3073 (2015)
   PUBMED   26277624
  REMARK    GeneRIF: A novel alternative splicing event of the FANCE gene has
            been characterized. FANCEDelta4 cannot support the activation of
            the FANC-BRCA pathway and DNA repair.
REFERENCE   4  (residues 1 to 451)
  AUTHORS   Huang Y, Leung JW, Lowery M, Matsushita N, Wang Y, Shen X, Huong D,
            Takata M, Chen J and Li L.
  TITLE     Modularized functions of the Fanconi anemia core complex
  JOURNAL   Cell Rep 7 (6), 1849-1857 (2014)
   PUBMED   24910428
  REMARK    Erratum:[Cell Rep. 2016 Mar 22;14(11):2761-3]
REFERENCE   5  (residues 1 to 451)
  AUTHORS   Waisfisz Q, Saar K, Morgan NV, Altay C, Leegwater PA, de Winter JP,
            Komatsu K, Evans GR, Wegner RD, Reis A, Joenje H, Arwert F, Mathew
            CG, Pronk JC and Digweed M.
  TITLE     The Fanconi anemia group E gene, FANCE, maps to chromosome 6p
  JOURNAL   Am J Hum Genet 64 (5), 1400-1405 (1999)
   PUBMED   10205272
REFERENCE   6  (residues 1 to 451)
  AUTHORS   Joenje H, Oostra AB, Wijker M, di Summa FM, van Berkel CG, Rooimans
            MA, Ebell W, van Weel M, Pronk JC, Buchwald M and Arwert F.
  TITLE     Evidence for at least eight Fanconi anemia genes
  JOURNAL   Am J Hum Genet 61 (4), 940-944 (1997)
   PUBMED   9382107
REFERENCE   7  (residues 1 to 451)
  AUTHORS   Wegner RD, Henrichs I, Joenje H and Schroeder-Kurth T.
  TITLE     Fanconi anemia complementation group E: clinical and cytogenetic
            data of the first patient
  JOURNAL   Clin Genet 50 (6), 479-482 (1996)
   PUBMED   9147877
REFERENCE   8  (residues 1 to 451)
  AUTHORS   Joenje H, Lo ten Foe JR, Oostra AB, van Berkel CG, Rooimans MA,
            Schroeder-Kurth T, Wegner RD, Gille JJ, Buchwald M and Arwert F.
  TITLE     Classification of Fanconi anemia patients by complementation
            analysis: evidence for a fifth genetic subtype
  JOURNAL   Blood 86 (6), 2156-2160 (1995)
   PUBMED   7662964
REFERENCE   9  (residues 1 to 451)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301753
REFERENCE   10 (residues 1 to 451)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL022721.1.
            On Aug 17, 2022 this sequence version replaced XP_005248945.1.
            
            Summary: The Fanconi anemia complementation group (FANC) currently
            includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2,
            FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM
            and FANCN (also called PALB2). The previously defined group FANCH
            is the same as FANCA. Fanconi anemia is a genetically heterogeneous
            recessive disorder characterized by cytogenetic instability,
            hypersensitivity to DNA crosslinking agents, increased chromosomal
            breakage, and defective DNA repair. The members of the Fanconi
            anemia complementation group do not share sequence similarity; they
            are related by their assembly into a common nuclear protein
            complex. This gene encodes the protein for complementation group E.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.879621.1,
                                           SRR12514508.497908.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142670, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..451
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     Protein         1..451
                     /product="Fanconi anemia group E protein isoform 2"
                     /note="Fanconi anemia group E protein; Fanconi anemia
                     complementation group E"
                     /calculated_mol_wt=49106
     Region          150..371
                     /region_name="Interaction with FANCC.
                     /evidence=ECO:0000269|PubMed:12649160"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HB96.1)"
     Region          171..252
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HB96.1)"
     Site            249
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9HB96.1)"
     Region          274..>446
                     /region_name="FANCE_c-term"
                     /note="Fanconi anemia complementation group E protein,
                     C-terminal domain; cl12008"
                     /db_xref="CDD:299861"
     Site            346
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CHEK1.
                     /evidence=ECO:0000269|PubMed:17296736; propagated from
                     UniProtKB/Swiss-Prot (Q9HB96.1)"
     Site            374
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CHEK1.
                     /evidence=ECO:0000269|PubMed:17296736; propagated from
                     UniProtKB/Swiss-Prot (Q9HB96.1)"
     CDS             1..451
                     /gene="FANCE"
                     /gene_synonym="FACE; FAE"
                     /coded_by="NM_001410876.1:209..1564"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS93899.1"
                     /db_xref="GeneID:2178"
                     /db_xref="HGNC:HGNC:3586"
                     /db_xref="MIM:613976"
ORIGIN      
        1 matpdaglpg aegvepapwa qleaparlll qalqagpega rrglgvlral gsrgwepfdw
       61 grllealcre epvvqgpdgr lelkplllrl pricqrnlms llmavrpslp esgllsvlqi
      121 aqqdlapdpd awlralgell rrdlgvgtsm egasplserc qrqlqslcrg lglggrrlks
      181 pqapdpeeee nrdsqqpgkr rkdseeeaas pegkrvpkrl rcweeeedhe kerpehksle
      241 sladggsasp ikdqpvmavk tgedgsnldd akglaeslel pkaiqdqlpr lqqllktlee
      301 glegledapp velqllhecs psqmdllcaq lqlpqlsdlg llrlctwlla lspdlslsna
      361 tvltrslflg rilsltssas rllttaltsf cakytypvcs alldpvlqap gtgpaqtell
      421 cclvkmesle pdaqvlmlgs lrprgwawlw p
//
LOCUS       NP_114121                719 aa            linear   PRI 10-APR-2023
DEFINITION  histone-lysine N-methyltransferase SETDB2 isoform a [Homo sapiens].
ACCESSION   NP_114121
VERSION     NP_114121.2
DBSOURCE    REFSEQ: accession NM_031915.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 719)
  AUTHORS   Yuan G, Hu B, Ma J, Zhang C, Xie H, Wei T, Yang Y and Ni B.
  TITLE     Histone lysine methyltransferase SETDB2 suppresses NRF2 to restrict
            tumor progression and modulates chemotherapy sensitivity in lung
            adenocarcinoma
  JOURNAL   Cancer Med 12 (6), 7258-7272 (2023)
   PUBMED   36504353
  REMARK    GeneRIF: Histone lysine methyltransferase SETDB2 suppresses NRF2 to
            restrict tumor progression and modulates chemotherapy sensitivity
            in lung adenocarcinoma.
REFERENCE   2  (residues 1 to 719)
  AUTHORS   Melvin WJ, Audu CO, Davis FM, Sharma SB, Joshi A, DenDekker A, Wolf
            S, Barrett E, Mangum K, Zhou X, Bame M, Ruan A, Obi A, Kunkel SL,
            Moore BB and Gallagher KA.
  TITLE     Coronavirus induces diabetic macrophage-mediated inflammation via
            SETDB2
  JOURNAL   Proc Natl Acad Sci U S A 118 (38) (2021)
   PUBMED   34479991
  REMARK    GeneRIF: Coronavirus induces diabetic macrophage-mediated
            inflammation via SETDB2.
REFERENCE   3  (residues 1 to 719)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 719)
  AUTHORS   Kimball AS, Davis FM, denDekker A, Joshi AD, Schaller MA, Bermick
            J, Xing X, Burant CF, Obi AT, Nysz D, Robinson S, Allen R, Lukacs
            NW, Henke PK, Gudjonsson JE, Moore BB, Kunkel SL and Gallagher KA.
  TITLE     The Histone Methyltransferase Setdb2 Modulates Macrophage Phenotype
            and Uric Acid Production in Diabetic Wound Repair
  JOURNAL   Immunity 51 (2), 258-271 (2019)
   PUBMED   31350176
  REMARK    GeneRIF: Setdb2 regulates macrophage plasticity during normal and
            pathologic wound repair
REFERENCE   5  (residues 1 to 719)
  AUTHORS   Torrano J, Al Emran A, Hammerlindl H and Schaider H.
  TITLE     Emerging roles of H3K9me3, SETDB1 and SETDB2 in therapy-induced
            cellular reprogramming
  JOURNAL   Clin Epigenetics 11 (1), 43 (2019)
   PUBMED   30850015
  REMARK    GeneRIF: A number of converging phenotypes outline a
            stress-responsive mechanism for SETDB1 and SETDB2 activation and
            subsequent increased tumor survival, providing novel insights into
            epigenetic biology. [review]
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 719)
  AUTHORS   Ocklenburg S, Arning L, Gerding WM, Hengstler JG, Epplen JT,
            Gunturkun O, Beste C and Akkad DA.
  TITLE     Left-Right Axis Differentiation and Functional Lateralization: a
            Haplotype in the Methyltransferase Encoding Gene SETDB2 Might
            Mediate Handedness in Healthy Adults
  JOURNAL   Mol Neurobiol 53 (9), 6355-6361 (2016)
   PUBMED   26572639
  REMARK    GeneRIF: the relation of genetic variation in SETDB2-and its
            paralogue SETDB1-with different handedness phenotypes in 950
            healthy adult participants, was investigated.
REFERENCE   7  (residues 1 to 719)
  AUTHORS   Holt RJ, Vandiedonck C, Willis-Owen SA, Knight JC, Cookson WO,
            Moffatt MF and Zhang Y.
  TITLE     A functional AT/G polymorphism in the 5'-untranslated region of
            SETDB2 in the IgE locus on human chromosome 13q14
  JOURNAL   Genes Immun 16 (7), 488-494 (2015)
   PUBMED   26378653
  REMARK    GeneRIF: Results indicate that the IgE-associated AT/G polymorphism
            (rs386770867) regulates transcription of SETDB2.
            Erratum:[Genes Immun. 2017 Jan;18(1):57. PMID: 27170559]
REFERENCE   8  (residues 1 to 719)
  AUTHORS   Falandry C, Fourel G, Galy V, Ristriani T, Horard B, Bensimon E,
            Salles G, Gilson E and Magdinier F.
  TITLE     CLLD8/KMT1F is a lysine methyltransferase that is important for
            chromosome segregation
  JOURNAL   J Biol Chem 285 (26), 20234-20241 (2010)
   PUBMED   20404330
  REMARK    GeneRIF: Results provide evidence that CLLD8/KMT1F is recruited to
            heterochromatin regions and contributes in vivo to the deposition
            of trimethyl marks in concert with SUV39H1/KMT1A.SUV39H1/KMT1A.
REFERENCE   9  (residues 1 to 719)
  AUTHORS   Zhang Y, Leaves NI, Anderson GG, Ponting CP, Broxholme J, Holt R,
            Edser P, Bhattacharyya S, Dunham A, Adcock IM, Pulleyn L, Barnes
            PJ, Harper JI, Abecasis G, Cardon L, White M, Burton J, Matthews L,
            Mott R, Ross M, Cox R, Moffatt MF and Cookson WO.
  TITLE     Positional cloning of a quantitative trait locus on chromosome
            13q14 that influences immunoglobulin E levels and asthma
  JOURNAL   Nat Genet 34 (2), 181-186 (2003)
   PUBMED   12754510
REFERENCE   10 (residues 1 to 719)
  AUTHORS   Mabuchi H, Fujii H, Calin G, Alder H, Negrini M, Rassenti L, Kipps
            TJ, Bullrich F and Croce CM.
  TITLE     Cloning and characterization of CLLD6, CLLD7, and CLLD8, novel
            candidate genes for leukemogenesis at chromosome 13q14, a region
            commonly deleted in B-cell chronic lymphocytic leukemia
  JOURNAL   Cancer Res 61 (7), 2870-2877 (2001)
   PUBMED   11306461
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136218.26, DB164537.1,
            AF334407.1, BC028202.1, AL139321.28 and AW297242.1.
            On May 29, 2009 this sequence version replaced NP_114121.1.
            
            Summary: This gene encodes a member of a family of proteins that
            contain a methyl-CpG-binding domain (MBD) and a SET domain and
            function as histone methyltransferases. This protein is recruited
            to heterochromatin and plays a role in the regulation of chromosome
            segregation. This region is commonly deleted in chronic lymphocytic
            leukemia. Naturally-occuring readthrough transcription occurs from
            this gene to the downstream PHF11 (PHD finger protein 11) gene.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF334407.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..719
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.2"
     Protein         1..719
                     /product="histone-lysine N-methyltransferase SETDB2
                     isoform a"
                     /EC_number="2.1.1.366"
                     /note="lysine N-methyltransferase 1F; histone-lysine
                     N-methyltransferase SETDB2; chronic lymphocytic leukemia
                     deletion region gene 8 protein; SET domain bifurcated 2"
                     /calculated_mol_wt=81764
     Region          72..102
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96T68.2)"
     Region          164..224
                     /region_name="HMT_MBD"
                     /note="Methyl-CpG binding domains (MBD) present in
                     putative histone methyltransferases (HMT) such as CLLD8
                     and SETDB1 proteins; CLLD8 contains a MBD, a PreSET and a
                     bifurcated SET domain, suggesting that CLLD8 might be
                     associated with methylation-mediated...; cd01395"
                     /db_xref="CDD:238689"
     Site            order(176,178,180,186,188,197,200,204)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238689"
     Region          222..718
                     /region_name="SET_SETDB2"
                     /note="SET domain (including pre-SET and post-SET domains)
                     found in SET domain bifurcated 2 (SETDB2) and similar
                     proteins; cd10523"
                     /db_xref="CDD:380921"
     Site            order(377..379,550..551,648..652,693,706..709,718)
                     /site_type="other"
                     /note="putative SAM binding site"
                     /db_xref="CDD:380921"
     Site            order(377..379,396,403,406..407,409,550..551,617..619,622,
                     637,648..652,660,662,675,691,693,705..709)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:380921"
     Region          508..547
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96T68.2)"
     Site            order(627..629,637,660,675,693)
                     /site_type="other"
                     /note="putative polypeptide substrate binding site
                     [polypeptide binding]"
                     /db_xref="CDD:380921"
     Site            order(654,707,709,714)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:380921"
     CDS             1..719
                     /gene="SETDB2"
                     /gene_synonym="C13orf4; CLLD8; CLLL8; KMT1F"
                     /coded_by="NM_031915.3:926..3085"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9417.1"
                     /db_xref="GeneID:83852"
                     /db_xref="HGNC:HGNC:20263"
                     /db_xref="MIM:607865"
ORIGIN      
        1 mgekngdakt fwmeleddgk vdfifeqvqn vlqslkqkik dgsatnkeyi qamilvneat
       61 iinsstsikg asqkevnaqs sdpmpvtqke qenksnafps tscensfped ctflttenke
      121 ilsledkvvd frekdsssnl syqshdcsga clmkmplnlk genplqlpik chfqrrhakt
      181 nshssalhvs yktpcgrslr nveevfryll etecnflftd nfsfntyvql arnypkqkev
      241 vsdvdisngv esvpisfcne idsrklpqfk yrktvwpray nltnfssmft dscdcsegci
      301 ditkcaclql tarnaktspl ssdkittgyk ykrlqrqipt giyecsllck cnrqlcqnrv
      361 vqhgpqvrlq vfkteqkgwg vrclddidrg tfvciysgrl lsranteksy gidengrden
      421 tmknifskkr klevacsdce vevlplglet hprtaktekc ppkfsnnpke ltvetkydni
      481 sriqyhsvir dpesktaifq hngkkmefvs sesvtpednd gfkpprehln sktkgaqkds
      541 ssnhvdefed nlliesdvid itkyreetpp rsrcnqattl dnqnikkaie vqiqkpqegr
      601 stacqrqqvf cdeellsetk ntssdsltkf nkgnvfllda tkegnvgrfl nhsccpnllv
      661 qnvfvethnr nfplvafftn ryvkartelt wdygyeagtv pekeifcqcg vnkcrkkil
//
LOCUS       NP_001356345             297 aa            linear   PRI 17-APR-2023
DEFINITION  DNA excision repair protein ERCC-1 isoform 2 [Homo sapiens].
ACCESSION   NP_001356345
VERSION     NP_001356345.1
DBSOURCE    REFSEQ: accession NM_001369416.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 297)
  AUTHORS   Adico MDW, Zoure AA, Sombie HK, Kiendrebeogo TI, Dabre S, Amegnona
            LJ, Bakyono BS, Traore L, Ouedraogo TC, Ouedraogo RA, Zohoncon TM,
            Yonli AT, Bayala B, Bambara HA, Djigma FW and Simpore J.
  TITLE     Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793, rs13181)
            polymorphisms of DNA repair genes in breast cancer occurrence in
            Burkina Faso
  JOURNAL   Mol Genet Genomic Med 11 (4), e2134 (2023)
   PUBMED   36594475
  REMARK    GeneRIF: Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793,
            rs13181) polymorphisms of DNA repair genes in breast cancer
            occurrence in Burkina Faso.
REFERENCE   2  (residues 1 to 297)
  AUTHORS   Du P, Li G, Wu L and Huang M.
  TITLE     Perspectives of ERCC1 in early-stage and advanced cervical cancer:
            From experiments to clinical applications
  JOURNAL   Front Immunol 13, 1065379 (2023)
   PUBMED   36713431
  REMARK    GeneRIF: Perspectives of ERCC1 in early-stage and advanced cervical
            cancer: From experiments to clinical applications.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 297)
  AUTHORS   Benzeid R, Gihbid A, Tawfiq N, Benchakroun N, Bendahhou K, Benider
            A, Guensi A, El Benna N, Filali Maltouf A, Attaleb M, Chaoui I,
            Khyatti M and El Mzibri M.
  TITLE     Genetic Polymorphisms in ERCC1 Gene and Their Association with
            Response to Radiotherapy in Moroccan Patients with Nasopharyngeal
            Carcinoma
  JOURNAL   Asian Pac J Cancer Prev 24 (1), 93-99 (2023)
   PUBMED   36708557
  REMARK    GeneRIF: Genetic Polymorphisms in ERCC1 Gene and Their Association
            with Response to Radiotherapy in Moroccan Patients with
            Nasopharyngeal Carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 297)
  AUTHORS   Liu M, Qiu Z and Yang Q.
  TITLE     Association between ERCC1 Gene Polymorphism (rs11615) and
            Colorectal Cancer Susceptibility: A Meta-Analysis of Medical Image
            Fusion and Safety Applications
  JOURNAL   Comput Math Methods Med 2022, 9988513 (2022)
   PUBMED   36277013
  REMARK    GeneRIF: Association between ERCC1 Gene Polymorphism (rs11615) and
            Colorectal Cancer Susceptibility: A Meta-Analysis of Medical Image
            Fusion and Safety Applications.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 297)
  AUTHORS   Kraemer,K.H., DiGiovanna,J.J. and Tamura,D.
  TITLE     Xeroderma Pigmentosum
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301571
REFERENCE   6  (residues 1 to 297)
  AUTHORS   Liu P, Perryman MB, Liao W and Siciliano MJ.
  TITLE     Efficiency and limitations of the hn-cDNA library approach for the
            isolation of human transcribed genes from hybrid cells
  JOURNAL   Somat Cell Mol Genet 18 (1), 7-18 (1992)
   PUBMED   1372133
REFERENCE   7  (residues 1 to 297)
  AUTHORS   van Duin M, van Den Tol J, Hoeijmakers JH, Bootsma D, Rupp IP,
            Reynolds P, Prakash L and Prakash S.
  TITLE     Conserved pattern of antisense overlapping transcription in the
            homologous human ERCC-1 and yeast RAD10 DNA repair gene regions
  JOURNAL   Mol Cell Biol 9 (4), 1794-1798 (1989)
   PUBMED   2471070
REFERENCE   8  (residues 1 to 297)
  AUTHORS   Hoeijmakers JH.
  TITLE     Characterization of genes and proteins involved in excision repair
            of human cells
  JOURNAL   J Cell Sci Suppl 6, 111-125 (1987)
   PUBMED   2821019
REFERENCE   9  (residues 1 to 297)
  AUTHORS   van Duin,M., de Wit,J., Odijk,H., Westerveld,A., Yasui,A.,
            Koken,M.H., Hoeijmakers,J.H. and Bootsma,D.
  TITLE     Molecular characterization of the human excision repair gene
            ERCC-1: cDNA cloning and amino acid homology with the yeast DNA
            repair gene RAD10
  JOURNAL   Cell 44 (6), 913-923 (1986)
   PUBMED   2420469
REFERENCE   10 (residues 1 to 297)
  AUTHORS   Westerveld,A., Hoeijmakers,J.H., van Duin,M., de Wit,J., Odijk,H.,
            Pastink,A., Wood,R.D. and Bootsma,D.
  TITLE     Molecular cloning of a human DNA repair gene
  JOURNAL   Nature 310 (5976), 425-429 (1984)
   PUBMED   6462228
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139353.3 and AC092309.3.
            
            Summary: The product of this gene functions in the nucleotide
            excision repair pathway, and is required for the repair of DNA
            lesions such as those induced by UV light or formed by
            electrophilic compounds including cisplatin. The encoded protein
            forms a heterodimer with the XPF endonuclease (also known as
            ERCC4), and the heterodimeric endonuclease catalyzes the 5'
            incision in the process of excising the DNA lesion. The
            heterodimeric endonuclease is also involved in recombinational DNA
            repair and in the repair of inter-strand crosslinks. Mutations in
            this gene result in cerebrooculofacioskeletal syndrome, and
            polymorphisms that alter expression of this gene may play a role in
            carcinogenesis. Multiple transcript variants encoding different
            isoforms have been found for this gene. The last exon of this gene
            overlaps with the CD3e molecule, epsilon associated protein gene on
            the opposite strand. [provided by RefSeq, Oct 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2605344.1,
                                           SRR18074968.810513.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..297
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     Protein         1..297
                     /product="DNA excision repair protein ERCC-1 isoform 2"
                     /note="DNA excision repair protein ERCC-1; excision repair
                     cross-complementation group 1; excision repair
                     cross-complementing rodent repair deficiency,
                     complementation group 1 (includes overlapping antisense
                     sequence)"
                     /calculated_mol_wt=32431
     Region          1..39
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P07992.1)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P07992.1)"
     Region          17..23
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P07992.1)"
     Region          99..226
                     /region_name="ERCC1_C-like"
                     /note="Central domain of ERCC1; cd22325"
                     /db_xref="CDD:411729"
     Site            order(117..119,166,179,183,186,189..190,193..198,200,204,
                     207..208,210..212,214..216,218..219,221..222)
                     /site_type="other"
                     /note="XPF interaction interface [polypeptide binding]"
                     /db_xref="CDD:411729"
     Region          220..297
                     /region_name="HhH2, dimerization with ERCC4/XPF.
                     /evidence=ECO:0000269|PubMed:16338413"
                     /note="propagated from UniProtKB/Swiss-Prot (P07992.1)"
     Region          <251..291
                     /region_name="uvrC"
                     /note="excinuclease ABC subunit UvrC; PRK00558"
                     /db_xref="CDD:234792"
     CDS             1..297
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /coded_by="NM_001369416.1:155..1048"
                     /note="isoform 2 is encoded by transcript variant 12"
                     /db_xref="CCDS:CCDS12662.1"
                     /db_xref="GeneID:2067"
                     /db_xref="HGNC:HGNC:3433"
                     /db_xref="MIM:126380"
ORIGIN      
        1 mdpgkdkegv pqpsgppark kfvipldede vppgvakplf rstqslptvd tsaqaapqty
       61 aeyaisqple gagatcptgs eplagetpnq alkpgaksns iivsprqrgn pvlkfvrnvp
      121 wefgdvipdy vlgqstcalf lslryhnlhp dyihgrlqsl gknfalrvll vqvdvkdpqq
      181 alkelakmci ladctlilaw speeagryle tykayeqkpa dllmekleqd fvsrvteclt
      241 tvksvnktds qtllttfgsl eqliaasred lalcpglgpq karrlfdvlh epflkvp
//
LOCUS       NP_612153                281 aa            linear   PRI 16-SEP-2022
DEFINITION  pre T-cell antigen receptor alpha isoform 2 precursor [Homo
            sapiens].
ACCESSION   NP_612153
VERSION     NP_612153.2
DBSOURCE    REFSEQ: accession NM_138296.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 281)
  AUTHORS   Heikkila N, Sormunen S, Mattila J, Harkonen T, Knip M, Ihantola EL,
            Kinnunen T, Mattila IP, Saramaki J and Arstila TP.
  TITLE     Generation of self-reactive, shared T-cell receptor alpha chains in
            the human thymus
  JOURNAL   J Autoimmun 119, 102616 (2021)
   PUBMED   33652347
  REMARK    GeneRIF: Generation of self-reactive, shared T-cell receptor alpha
            chains in the human thymus.
REFERENCE   2  (residues 1 to 281)
  AUTHORS   Guan W, Steffen BT, Lemaitre RN, Wu JHY, Tanaka T, Manichaikul A,
            Foy M, Rich SS, Wang L, Nettleton JA, Tang W, Gu X, Bandinelli S,
            King IB, McKnight B, Psaty BM, Siscovick D, Djousse L, Chen YI,
            Ferrucci L, Fornage M, Mozafarrian D, Tsai MY and Steffen LM.
  TITLE     Genome-wide association study of plasma N6 polyunsaturated fatty
            acids within the cohorts for heart and aging research in genomic
            epidemiology consortium
  JOURNAL   Circ Cardiovasc Genet 7 (3), 321-331 (2014)
   PUBMED   24823311
REFERENCE   3  (residues 1 to 281)
  AUTHORS   Fleig L, Bergbold N, Sahasrabudhe P, Geiger B, Kaltak L and Lemberg
            MK.
  TITLE     Ubiquitin-dependent intramembrane rhomboid protease promotes ERAD
            of membrane proteins
  JOURNAL   Mol Cell 47 (4), 558-569 (2012)
   PUBMED   22795130
REFERENCE   4  (residues 1 to 281)
  AUTHORS   Menon R, Pearce B, Velez DR, Merialdi M, Williams SM, Fortunato SJ
            and Thorsen P.
  TITLE     Racial disparity in pathophysiologic pathways of preterm birth
            based on genetic variants
  JOURNAL   Reprod Biol Endocrinol 7, 62 (2009)
   PUBMED   19527514
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 281)
  AUTHORS   Velez DR, Fortunato S, Thorsen P, Lombardi SJ, Williams SM and
            Menon R.
  TITLE     Spontaneous preterm birth in African Americans is associated with
            infection and inflammatory response gene variants
  JOURNAL   Am J Obstet Gynecol 200 (2), 209 (2009)
   PUBMED   19019335
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 281)
  AUTHORS   Aifantis I, Borowski C, Gounari F, Lacorazza HD, Nikolich-Zugich J
            and von Boehmer H.
  TITLE     A critical role for the cytoplasmic tail of pTalpha in T lymphocyte
            development
  JOURNAL   Nat Immunol 3 (5), 483-488 (2002)
   PUBMED   11927911
  REMARK    Erratum:[Nat Immunol 2002 Jun;3(6):591]
REFERENCE   7  (residues 1 to 281)
  AUTHORS   Bellavia D, Campese AF, Checquolo S, Balestri A, Biondi A,
            Cazzaniga G, Lendahl U, Fehling HJ, Hayday AC, Frati L, von Boehmer
            H, Gulino A and Screpanti I.
  TITLE     Combined expression of pTalpha and Notch3 in T cell leukemia
            identifies the requirement of preTCR for leukemogenesis
  JOURNAL   Proc Natl Acad Sci U S A 99 (6), 3788-3793 (2002)
   PUBMED   11891328
  REMARK    GeneRIF: Combined expression of pTalpha and Notch3 in T cell
            leukemia identifies the requirement of preTCR for leukemogenesis
REFERENCE   8  (residues 1 to 281)
  AUTHORS   Saint-Ruf C, Lechner O, Feinberg J and von Boehmer H.
  TITLE     Genomic structure of the human pre-T cell receptor alpha chain and
            expression of two mRNA isoforms
  JOURNAL   Eur J Immunol 28 (11), 3824-3831 (1998)
   PUBMED   9842925
REFERENCE   9  (residues 1 to 281)
  AUTHORS   Ramiro AR, Trigueros C, Marquez C, San Millan JL and Toribio ML.
  TITLE     Regulation of pre-T cell receptor (pT alpha-TCR beta) gene
            expression during human thymic development
  JOURNAL   J Exp Med 184 (2), 519-530 (1996)
   PUBMED   8760805
REFERENCE   10 (residues 1 to 281)
  AUTHORS   Del Porto P, Bruno L, Mattei MG, von Boehmer H and Saint-Ruf C.
  TITLE     Cloning and comparative analysis of the human pre-T-cell receptor
            alpha-chain gene
  JOURNAL   Proc Natl Acad Sci U S A 92 (26), 12105-12109 (1995)
   PUBMED   8618853
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC100771.1, U38996.1 and
            AW014894.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 7, 2006 this sequence version replaced NP_612153.1.
            
            Summary: The protein encoded by this gene is a single-pass type I
            membrane protein that is found in immmature but not mature T-cells.
            Along with TCRB and CD3 complex, the encoded protein forms the
            pre-T-cell receptor complex, which regulates early T-cell
            development. Four transcript variants encoding different isoforms
            have been found for this gene.[provided by RefSeq, Jul 2011].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction at the 5' end of an exon compared to variant 1. The
            resulting isoform (2) lacks an alternate internal segment compared
            to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U36759.1, BC100773.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304672.6/ ENSP00000304447.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..281
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     Protein         1..281
                     /product="pre T-cell antigen receptor alpha isoform 2
                     precursor"
                     /note="pre-T-cell receptor alpha chain; pT-alpha-TCR"
                     /calculated_mol_wt=27059
     sig_peptide     1..23
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2225
     Region          20..146
                     /region_name="PTCRA"
                     /note="Pre-T-cell antigen receptor; pfam15028"
                     /db_xref="CDD:434403"
     CDS             1..281
                     /gene="PTCRA"
                     /gene_synonym="PT-ALPHA; PTA"
                     /coded_by="NM_138296.3:18..863"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS4874.1"
                     /db_xref="GeneID:171558"
                     /db_xref="HGNC:HGNC:21290"
                     /db_xref="MIM:606817"
ORIGIN      
        1 magtwlllll algcpalptg vggtpfpsla ppimllvdgk qqmvvvclvl dvappgldsp
       61 iwfsagngsa ldaftygpsp atdgtwtnla hlslpseela sweplvchtg pgaeghsrst
      121 qpmhlsgeas tartcpqepl rgtpggalwl gvlrlllfkl llfdllltcs clcdpagplp
      181 spatttrlra lgshrlhpat etggreatss prpqprdrrw gdtppgrkpg spvwgegsyl
      241 ssyptcpaqa wcsrsalrap ssslgaffag dlppplqaga a
//
LOCUS       NP_114140                259 aa            linear   PRI 24-DEC-2022
DEFINITION  ras-related protein Rab-34 isoform 1 [Homo sapiens].
ACCESSION   NP_114140
VERSION     NP_114140.4
DBSOURCE    REFSEQ: accession NM_031934.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 259)
  AUTHORS   Feng Y, Tran MT, Lu Y, Htike K, Okusha Y, Sogawa C, Eguchi T,
            Kadowaki T, Sakai E, Tsukuba T and Okamoto K.
  TITLE     Rab34 plays a critical role as a bidirectional regulator of
            osteoclastogenesis
  JOURNAL   Cell Biochem Funct 40 (3), 263-277 (2022)
   PUBMED   35285960
  REMARK    GeneRIF: Rab34 plays a critical role as a bidirectional regulator
            of osteoclastogenesis.
REFERENCE   2  (residues 1 to 259)
  AUTHORS   Ganga AK, Kennedy MC, Oguchi ME, Gray S, Oliver KE, Knight TA, De
            La Cruz EM, Homma Y, Fukuda M and Breslow DK.
  TITLE     Rab34 GTPase mediates ciliary membrane formation in the
            intracellular ciliogenesis pathway
  JOURNAL   Curr Biol 31 (13), 2895-2905 (2021)
   PUBMED   33989527
  REMARK    GeneRIF: Rab34 GTPase mediates ciliary membrane formation in the
            intracellular ciliogenesis pathway.
REFERENCE   3  (residues 1 to 259)
  AUTHORS   Oguchi ME, Okuyama K, Homma Y and Fukuda M.
  TITLE     A comprehensive analysis of Rab GTPases reveals a role for Rab34 in
            serum starvation-induced primary ciliogenesis
  JOURNAL   J Biol Chem 295 (36), 12674-12685 (2020)
   PUBMED   32669361
  REMARK    GeneRIF: A comprehensive analysis of Rab GTPases reveals a role for
            Rab34 in serum starvation-induced primary ciliogenesis.
REFERENCE   4  (residues 1 to 259)
  AUTHORS   Zougman A, Mann M and Wisniewski JR.
  TITLE     Identification and characterization of a novel ubiquitous nucleolar
            protein 'NARR' encoded by a gene overlapping the rab34 oncogene
  JOURNAL   Nucleic Acids Res 39 (16), 7103-7113 (2011)
   PUBMED   21586586
  REMARK    GeneRIF: NARR is ubiquitously expressed and resides in nucleoli
            where it colocalizes with ribosomal DNA gene clusters.
REFERENCE   5  (residues 1 to 259)
  AUTHORS   Goldenberg NM, Grinstein S and Silverman M.
  TITLE     Golgi-bound Rab34 is a novel member of the secretory pathway
  JOURNAL   Mol Biol Cell 18 (12), 4762-4771 (2007)
   PUBMED   17881736
  REMARK    GeneRIF: define Rab34 as a novel member of the secretory pathway
            acting at the Golgi
REFERENCE   6  (residues 1 to 259)
  AUTHORS   Wang T, Wong KK and Hong W.
  TITLE     A unique region of RILP distinguishes it from its related proteins
            in its regulation of lysosomal morphology and interaction with Rab7
            and Rab34
  JOURNAL   Mol Biol Cell 15 (2), 815-826 (2004)
   PUBMED   14668488
REFERENCE   7  (residues 1 to 259)
  AUTHORS   Chen T, Han Y, Yang M, Zhang W, Li N, Wan T, Guo J and Cao X.
  TITLE     Rab39, a novel Golgi-associated Rab GTPase from human dendritic
            cells involved in cellular endocytosis
  JOURNAL   Biochem Biophys Res Commun 303 (4), 1114-1120 (2003)
   PUBMED   12684051
REFERENCE   8  (residues 1 to 259)
  AUTHORS   Sun P, Yamamoto H, Suetsugu S, Miki H, Takenawa T and Endo T.
  TITLE     Small GTPase Rah/Rab34 is associated with membrane ruffles and
            macropinosomes and promotes macropinosome formation
  JOURNAL   J Biol Chem 278 (6), 4063-4071 (2003)
   PUBMED   12446704
REFERENCE   9  (residues 1 to 259)
  AUTHORS   Wang T and Hong W.
  TITLE     Interorganellar regulation of lysosome positioning by the Golgi
            apparatus through Rab34 interaction with Rab-interacting lysosomal
            protein
  JOURNAL   Mol Biol Cell 13 (12), 4317-4332 (2002)
   PUBMED   12475955
REFERENCE   10 (residues 1 to 259)
  AUTHORS   Morimoto BH, Chuang CC and Koshland DE Jr.
  TITLE     Molecular cloning of a member of a new class of
            low-molecular-weight GTP-binding proteins
  JOURNAL   Genes Dev 5 (12B), 2386-2391 (1991)
   PUBMED   1752434
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI523728.1, BC016841.1,
            AK074689.1 and BG251677.1.
            On Jan 30, 2009 this sequence version replaced NP_114140.3.
            
            Summary: This gene encodes a protein belonging to the RAB family of
            proteins, which are small GTPases involved in protein transport.
            This family member is a Golgi-bound member of the secretory pathway
            that is involved in the repositioning of lysosomes and the
            activation of macropinocytosis. Alternative splicing of this gene
            results in multiple transcript variants. An alternatively spliced
            transcript variant produces the nine-amino acid residue-repeats
            (NARR) protein, which is a functionally distinct nucleolar protein
            resulting from a different reading frame. [provided by RefSeq, Dec
            2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform 1. Both variants 1 and 6 encode
            isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074689.1, BC091510.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000395245.9/ ENSP00000378666.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..259
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     Protein         1..259
                     /product="ras-related protein Rab-34 isoform 1"
                     /note="ras-related protein Rah; ras-related protein
                     Rab-39; nine amino-acid residue-repeats"
                     /calculated_mol_wt=28913
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9BZG1.1)"
     Region          53..220
                     /region_name="Rab36_Rab34"
                     /note="Rab GTPase families 34 (Rab34) and 36 (Rab36);
                     cd04108"
                     /db_xref="CDD:206693"
     Site            53..54
                     /site_type="other"
                     /note="Rab subfamily motif 1 (RabSF1)"
                     /db_xref="CDD:206693"
     Site            59..66
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206693"
     Site            order(61..67,77,83..84,110,166..167,169,198..200)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206693"
     Site            67..83
                     /site_type="other"
                     /note="Rab subfamily motif 2 (RabSF2)"
                     /db_xref="CDD:206693"
     Site            order(77,82..90)
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206693"
     Region          81..89
                     /region_name="Effector region. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZG1.1)"
     Site            order(82,86..93,100,102)
                     /site_type="other"
                     /note="putative GEF interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:206693"
     Site            84
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206693"
     Site            order(85,87..89,104,106,113..114,117,121,123..126,216)
                     /site_type="active"
                     /note="putative effector interaction site [active]"
                     /db_xref="CDD:206693"
     Site            order(85..86,88,106..107,114,116,118..120)
                     /site_type="other"
                     /note="putative GDI interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:206693"
     Site            85..89
                     /site_type="other"
                     /note="Rab family motif 1 (RabF1)"
                     /db_xref="CDD:206693"
     Site            102..106
                     /site_type="other"
                     /note="Rab family motif 2 (RabF2)"
                     /db_xref="CDD:206693"
     Site            107..110
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206693"
     Site            order(110,112..122)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206693"
     Site            113..118
                     /site_type="other"
                     /note="Rab family motif 3 (RabF3)"
                     /db_xref="CDD:206693"
     Site            121..125
                     /site_type="other"
                     /note="Rab family motif 4 (RabF4)"
                     /db_xref="CDD:206693"
     Site            130..135
                     /site_type="other"
                     /note="Rab family motif 5 (RabF5)"
                     /db_xref="CDD:206693"
     Site            159..163
                     /site_type="other"
                     /note="Rab subfamily motif 3 (RabSF3)"
                     /db_xref="CDD:206693"
     Site            166..169
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206693"
     Site            198..200
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206693"
     Site            214..218
                     /site_type="other"
                     /note="Rab subfamily motif 4 (RabSF4)"
                     /db_xref="CDD:206693"
     Site            241
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9BZG1.1)"
     Site            244
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BZG1.1)"
     CDS             1..259
                     /gene="RAB34"
                     /gene_synonym="NARR; RAB39; RAH"
                     /coded_by="NM_031934.6:603..1382"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS11240.1"
                     /db_xref="GeneID:83871"
                     /db_xref="HGNC:HGNC:16519"
                     /db_xref="MIM:610917"
ORIGIN      
        1 mnilapvrrd rvlaelpqcl rkeaalhghk dfhprvtcac qehrtgtvgf kiskvivvgd
       61 lsvgktclin rfckdtfdkn ykatigvdfe merfevlgip fslqlwdtag qerfkciast
      121 yyrgaqaiii vfnlndvasl ehtkqwlada lkendpssvl lflvgskkdl stpaqyalme
      181 kdalqvaqem kaeywavssl tgenvrefff rvaaltfean vlaeleksga rrigdvvrin
      241 sddsnlylta skkkptccp
//
LOCUS       NP_064556                301 aa            linear   PRI 24-DEC-2022
DEFINITION  protein GPR108 isoform 2 [Homo sapiens].
ACCESSION   NP_064556 XP_006722864 XP_939022 XP_946818 XP_950505
VERSION     NP_064556.1
DBSOURCE    REFSEQ: accession NM_020171.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 301)
  AUTHORS   Lyu S, Zhang X, Tu Z, Zhou H, Ke X and Qu Y.
  TITLE     GPR108 is required for gambogic acid inhibiting NF-kappaB signaling
            in cancer
  JOURNAL   Pharmacol Res 182, 106279 (2022)
   PUBMED   35659621
  REMARK    GeneRIF: GPR108 is required for gambogic acid inhibiting NF-kappaB
            signaling in cancer.
REFERENCE   2  (residues 1 to 301)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 301)
  AUTHORS   Meisen WH, Nejad ZB, Hardy M, Zhao H, Oliverio O, Wang S, Hale C,
            Ollmann MM and Collins PJ.
  TITLE     Pooled Screens Identify GPR108 and TM9SF2 as Host Cell Factors
            Critical for AAV Transduction
  JOURNAL   Mol Ther Methods Clin Dev 17, 601-611 (2020)
   PUBMED   32280726
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 301)
  AUTHORS   Dudek AM, Zabaleta N, Zinn E, Pillay S, Zengel J, Porter C,
            Franceschini JS, Estelien R, Carette JE, Zhou GL and Vandenberghe
            LH.
  TITLE     GPR108 Is a Highly Conserved AAV Entry Factor
  JOURNAL   Mol Ther 28 (2), 367-381 (2020)
   PUBMED   31784416
REFERENCE   5  (residues 1 to 301)
  AUTHORS   Dong D, Zhou H, Na SY, Niedra R, Peng Y, Wang H, Seed B and Zhou
            GL.
  TITLE     GPR108, an NF-kappaB activator suppressed by TIRAP, negatively
            regulates TLR-triggered immune responses
  JOURNAL   PLoS One 13 (10), e0205303 (2018)
   PUBMED   30332431
  REMARK    GeneRIF: GPR108, an NF-kappaB activator suppressed by TIRAP,
            negatively regulates TLR-triggered immune responses.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 301)
  AUTHORS   Han S, Lan Q, Park AK, Lee KM, Park SK, Ahn HS, Shin HY, Kang HJ,
            Koo HH, Seo JJ, Choi JE, Ahn YO, Chanock SJ, Kim H, Rothman N and
            Kang D.
  TITLE     Polymorphisms in innate immunity genes and risk of childhood
            leukemia
  JOURNAL   Hum Immunol 71 (7), 727-730 (2010)
   PUBMED   20438785
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   7  (residues 1 to 301)
  AUTHORS   Rajaraman P, Brenner AV, Neta G, Pfeiffer R, Wang SS, Yeager M,
            Thomas G, Fine HA, Linet MS, Rothman N, Chanock SJ and Inskip PD.
  TITLE     Risk of meningioma and common variation in genes related to innate
            immunity
  JOURNAL   Cancer Epidemiol Biomarkers Prev 19 (5), 1356-1361 (2010)
   PUBMED   20406964
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 301)
  AUTHORS   Rajaraman P, Brenner AV, Butler MA, Wang SS, Pfeiffer RM, Ruder AM,
            Linet MS, Yeager M, Wang Z, Orr N, Fine HA, Kwon D, Thomas G,
            Rothman N, Inskip PD and Chanock SJ.
  TITLE     Common variation in genes related to innate immunity and risk of
            adult glioma
  JOURNAL   Cancer Epidemiol Biomarkers Prev 18 (5), 1651-1658 (2009)
   PUBMED   19423540
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 301)
  AUTHORS   Edgar AJ.
  TITLE     Human GPR107 and murine Gpr108 are members of the LUSTR family of
            proteins found in both plants and animals, having similar topology
            to G-protein coupled receptors
  JOURNAL   DNA Seq 18 (3), 235-241 (2007)
   PUBMED   17454009
  REMARK    GeneRIF: The 18-exon human GPR107 gene is located at 9q34.2-3 and
            spans 86.4 kb and the cDNA encodes a 552 residue protein; murine
            Gpr108 cDNA encodes a 562 residue protein that has 49% identity to
            human GPR107.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008760.7.
            On or before May 11, 2018 this sequence version replaced
            XP_006722864.1, XP_939022.1, XP_950505.1, XP_946818.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.529624.1,
                                           SRR3476690.422316.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..301
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..301
                     /product="protein GPR108 isoform 2"
                     /note="protein GPR108; lung seven transmembrane receptor
                     2"
                     /calculated_mol_wt=34138
     Region          1..261
                     /region_name="Lung_7-TM_R"
                     /note="Lung seven transmembrane receptor; pfam06814"
                     /db_xref="CDD:369089"
     CDS             1..301
                     /gene="GPR108"
                     /gene_synonym="LUSTR2"
                     /coded_by="NM_020171.2:920..1825"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS45940.1"
                     /db_xref="GeneID:56927"
                     /db_xref="HGNC:HGNC:17829"
                     /db_xref="MIM:618491"
ORIGIN      
        1 mireknpdgf lsaaemplfk lymvmsacfl aagifwvsil crntysvfki hwlmaalaft
       61 ksisllfhsi nyyfinsqgh pieglavmyy iahllkgall fitialigsg wafikyvlsd
      121 kekkvfgivi pmqvlanvay iiiesreega sdyvlwkeil flvdliccga ilfpvvwsir
      181 hlqdasgtdg kvavnlaklk lfrhyyvmvi cyvyftriia illqvavpfq wqwlyqllve
      241 gstlaffvlt gykfqptgnn pylqlpqede edvqmeqvmt dsgfreglsk vnktasgrel
      301 l
//
LOCUS       NP_004844                236 aa            linear   PRI 24-DEC-2022
DEFINITION  syntaxin-8 [Homo sapiens].
ACCESSION   NP_004844
VERSION     NP_004844.1
DBSOURCE    REFSEQ: accession NM_004853.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 236)
  AUTHORS   Xu H.
  TITLE     Smuggle tau through a secret(ory) pathway
  JOURNAL   Biochem J 478 (14), 2921-2925 (2021)
   PUBMED   34319403
  REMARK    GeneRIF: Smuggle tau through a secret(ory) pathway.
REFERENCE   2  (residues 1 to 236)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 236)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 236)
  AUTHORS   Hubel P, Urban C, Bergant V, Schneider WM, Knauer B, Stukalov A,
            Scaturro P, Mann A, Brunotte L, Hoffmann HH, Schoggins JW,
            Schwemmle M, Mann M, Rice CM and Pichlmair A.
  TITLE     A protein-interaction network of interferon-stimulated genes
            extends the innate immune system landscape
  JOURNAL   Nat Immunol 20 (4), 493-502 (2019)
   PUBMED   30833792
REFERENCE   5  (residues 1 to 236)
  AUTHORS   Sabirzhanova,I., Boinot,C., Guggino,W.B. and Cebotaru,L.
  TITLE     Syntaxin 8 and the Endoplasmic Reticulum Processing of
            DeltaF508-CFTR
  JOURNAL   Cell Physiol Biochem 51 (3), 1489-1499 (2018)
   PUBMED   30485852
  REMARK    GeneRIF: STX8 silencing restores the function ofDeltaF508-CFTR.
REFERENCE   6  (residues 1 to 236)
  AUTHORS   McShea A, Samuel T, Eppel JT, Galloway DA and Funk JO.
  TITLE     Identification of CIP-1-associated regulator of cyclin B (CARB), a
            novel p21-binding protein acting in the G2 phase of the cell cycle
  JOURNAL   J Biol Chem 275 (30), 23181-23186 (2000)
   PUBMED   10781590
REFERENCE   7  (residues 1 to 236)
  AUTHORS   Scales SJ, Chen YA, Yoo BY, Patel SM, Doung YC and Scheller RH.
  TITLE     SNAREs contribute to the specificity of membrane fusion
  JOURNAL   Neuron 26 (2), 457-464 (2000)
   PUBMED   10839363
REFERENCE   8  (residues 1 to 236)
  AUTHORS   Prekeris R, Yang B, Oorschot V, Klumperman J and Scheller RH.
  TITLE     Differential roles of syntaxin 7 and syntaxin 8 in endosomal
            trafficking
  JOURNAL   Mol Biol Cell 10 (11), 3891-3908 (1999)
   PUBMED   10564279
REFERENCE   9  (residues 1 to 236)
  AUTHORS   Thoreau V, Berges T, Callebaut I, Guillier-Gencik Z, Gressin L,
            Bernheim A, Karst F, Mornon JP, Kitzis A and Chomel JC.
  TITLE     Molecular cloning, expression analysis, and chromosomal
            localization of human syntaxin 8 (STX8)
  JOURNAL   Biochem Biophys Res Commun 257 (2), 577-583 (1999)
   PUBMED   10198254
REFERENCE   10 (residues 1 to 236)
  AUTHORS   Steegmaier M, Yang B, Yoo JS, Huang B, Shen M, Yu S, Luo Y and
            Scheller RH.
  TITLE     Three novel proteins of the syntaxin/SNAP-25 family
  JOURNAL   J Biol Chem 273 (51), 34171-34179 (1998)
   PUBMED   9852078
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC009713.1 and AC087501.16.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The gene is a member of the syntaxin family. The encoded
            protein is involved in protein trafficking from early to late
            endosomes via vesicle fusion and exocytosis. A related pseudogene
            has been identified on chromosome 12. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the functional protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.526261.1, BC009713.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306357.9/ ENSP00000305255.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..236
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     Protein         1..236
                     /product="syntaxin-8"
                     /note="CIP-1-associated regulator of cyclin B"
                     /calculated_mol_wt=26776
     Region          152..204
                     /region_name="SNARE_Syntaxin8"
                     /note="SNARE motif of syntaxin 8; cd15852"
                     /db_xref="CDD:277205"
     Site            order(154..155,157..159,161..162,164..166,168..173,
                     175..180,182..183,185..187,189..191,193..194,196..198,
                     200..201,203..204)
                     /site_type="other"
                     /note="heterotetramer interface [polypeptide binding]"
                     /db_xref="CDD:277205"
     Site            160
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O88983; propagated from
                     UniProtKB/Swiss-Prot (Q9UNK0.2)"
     Site            179
                     /site_type="other"
                     /note="zero layer"
                     /db_xref="CDD:277205"
     Site            216..232
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UNK0.2)"
     CDS             1..236
                     /gene="STX8"
                     /gene_synonym="CARB"
                     /coded_by="NM_004853.3:13..723"
                     /db_xref="CCDS:CCDS32565.1"
                     /db_xref="GeneID:9482"
                     /db_xref="HGNC:HGNC:11443"
                     /db_xref="MIM:604203"
ORIGIN      
        1 mapdpwfsty dstcqiaqei aekiqqrnqy erkgekapkl tvtirallqn lkekiallkd
       61 lllravsthq itqlegdrrq nllddlvtre rlllasfkne gaepdlirss lmseeakrga
      121 pnpwlfeepe etrglgfdei rqqqqkiiqe qdagldalss iisrqkqmgq eigneldeqn
      181 eiiddlanlv entdeklrne trrvnmvdrk sascgmimvi llllvaivvv avwptn
//
LOCUS       NP_060497               1039 aa            linear   PRI 25-DEC-2022
DEFINITION  FERM domain-containing protein 4A isoform a [Homo sapiens].
ACCESSION   NP_060497
VERSION     NP_060497.3
DBSOURCE    REFSEQ: accession NM_018027.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1039)
  AUTHORS   Diaz-Pena R, Julia RF, Montes JF, Silva RS and Olloquequi J.
  TITLE     Polymorphisms in the FRMD4A Gene Are Associated With Chronic
            Obstructive Pulmonary Disease Susceptibility in a Latin American
            Population
  JOURNAL   Arch Bronconeumol 58 (5), 454-456 (2022)
   PUBMED   35312514
  REMARK    GeneRIF: Polymorphisms in the FRMD4A Gene Are Associated With
            Chronic Obstructive Pulmonary Disease Susceptibility in a Latin
            American Population.', trans 'Polimorfismos en el gen FRMD4A se
            asocian a riesgo de enfermedad pulmonar obstructiva cronica en
            poblacion latinoamericana.
REFERENCE   2  (residues 1 to 1039)
  AUTHORS   Zheng X, Jia B, Lin X, Han J, Qiu X, Chu H, Sun X, Hu W, Pan J,
            Chen J and Zhao J.
  TITLE     FRMD4A: A potential therapeutic target for the treatment of tongue
            squamous cell carcinoma
  JOURNAL   Int J Mol Med 38 (5), 1443-1449 (2016)
   PUBMED   27666346
  REMARK    GeneRIF: Findings suggest that FRMD4A expression correlates with
            the development of tongue squamous cell carcinoma.
REFERENCE   3  (residues 1 to 1039)
  AUTHORS   Yan X, Nykanen NP, Brunello CA, Haapasalo A, Hiltunen M, Uronen RL
            and Huttunen HJ.
  TITLE     FRMD4A-cytohesin signaling modulates the cellular release of tau
  JOURNAL   J Cell Sci 129 (10), 2003-2015 (2016)
   PUBMED   27044754
  REMARK    GeneRIF: FRMD4A RNAi or inhibition of cytohesins strongly
            upregulated secretion of endogenous tau. These results suggest that
            FRMD4A, a genetic risk factor for late-onset Alzheimer's disease,
            regulates tau secretion by activating cytohesin-Arf6 signaling.
REFERENCE   4  (residues 1 to 1039)
  AUTHORS   Wang MM, Fang MX, Chen LG, Wang HQ, Liu HJ and Tang HL.
  TITLE     Differential expression of microRNA in endothelial cells incubated
            with serum of hypertension patients with blood-stasis syndrome
  JOURNAL   Chin J Integr Med 21 (11), 817-822 (2015)
   PUBMED   25864118
REFERENCE   5  (residues 1 to 1039)
  AUTHORS   Kupers LK, Xu X, Jankipersadsing SA, Vaez A, la Bastide-van Gemert
            S, Scholtens S, Nolte IM, Richmond RC, Relton CL, Felix JF, Duijts
            L, van Meurs JB, Tiemeier H, Jaddoe VW, Wang X, Corpeleijn E and
            Snieder H.
  TITLE     DNA methylation mediates the effect of maternal smoking during
            pregnancy on birthweight of the offspring
  JOURNAL   Int J Epidemiol 44 (4), 1224-1237 (2015)
   PUBMED   25862628
REFERENCE   6  (residues 1 to 1039)
  AUTHORS   Lambert JC, Grenier-Boley B, Harold D, Zelenika D, Chouraki V,
            Kamatani Y, Sleegers K, Ikram MA, Hiltunen M, Reitz C, Mateo I,
            Feulner T, Bullido M, Galimberti D, Concari L, Alvarez V, Sims R,
            Gerrish A, Chapman J, Deniz-Naranjo C, Solfrizzi V, Sorbi S, Arosio
            B, Spalletta G, Siciliano G, Epelbaum J, Hannequin D, Dartigues JF,
            Tzourio C, Berr C, Schrijvers EM, Rogers R, Tosto G, Pasquier F,
            Bettens K, Van Cauwenberghe C, Fratiglioni L, Graff C, Delepine M,
            Ferri R, Reynolds CA, Lannfelt L, Ingelsson M, Prince JA, Chillotti
            C, Pilotto A, Seripa D, Boland A, Mancuso M, Bossu P, Annoni G,
            Nacmias B, Bosco P, Panza F, Sanchez-Garcia F, Del Zompo M, Coto E,
            Owen M, O'Donovan M, Valdivieso F, Caffarra P, Scarpini E,
            Combarros O, Buee L, Campion D, Soininen H, Breteler M,
            Riemenschneider M, Van Broeckhoven C, Alperovitch A, Lathrop M,
            Tregouet DA, Williams J and Amouyel P.
  TITLE     Genome-wide haplotype association study identifies the FRMD4A gene
            as a risk locus for Alzheimer's disease
  JOURNAL   Mol Psychiatry 18 (4), 461-470 (2013)
   PUBMED   22430674
  REMARK    GeneRIF: data suggest that FRMD4A could be a relevant candidate
            gene for AD risk.
            Erratum:[Mol Psychiatry. 2013 Apr;18(4):521. Caffara, P [corrected
            to Caffarra, P]]
REFERENCE   7  (residues 1 to 1039)
  AUTHORS   Goldie SJ, Mulder KW, Tan DW, Lyons SK, Sims AH and Watt FM.
  TITLE     FRMD4A upregulation in human squamous cell carcinoma promotes tumor
            growth and metastasis and is associated with poor prognosis
  JOURNAL   Cancer Res 72 (13), 3424-3436 (2012)
   PUBMED   22564525
  REMARK    GeneRIF: findings suggest FRMD4A as a novel candidate therapeutic
            target in HNSCC based on the key role in metastatic growth we have
            identified
REFERENCE   8  (residues 1 to 1039)
  AUTHORS   Yoon D, Kim YJ, Cui WY, Van der Vaart A, Cho YS, Lee JY, Ma JZ,
            Payne TJ, Li MD and Park T.
  TITLE     Large-scale genome-wide association study of Asian population
            reveals genetic factors in FRMD4A and other loci influencing
            smoking initiation and nicotine dependence
  JOURNAL   Hum Genet 131 (6), 1009-1021 (2012)
   PUBMED   22006218
  REMARK    GeneRIF: A single nucleotide polymorphism in the FERM domain
            containing 4A protein is associated with nicotine dependence.
REFERENCE   9  (residues 1 to 1039)
  AUTHORS   Ikenouchi J and Umeda M.
  TITLE     FRMD4A regulates epithelial polarity by connecting Arf6 activation
            with the PAR complex
  JOURNAL   Proc Natl Acad Sci U S A 107 (2), 748-753 (2010)
   PUBMED   20080746
REFERENCE   10 (residues 1 to 1039)
  AUTHORS   Matolweni LO, Bardien S, Rebello G, Oppon E, Munclinger M, Ramesar
            R, Watkins H and Mayosi BM.
  TITLE     Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6):
            support for the locus assignment, narrowing of the critical region
            and mutation screening of three candidate genes
  JOURNAL   BMC Med Genet 7, 29 (2006)
   PUBMED   16569242
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC069025.5, BC151244.1,
            AK289693.1, AL157392.18 and BU073361.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 12, 2006 this sequence version replaced NP_060497.2.
            
            Summary: This gene encodes a FERM domain-containing protein that
            regulates epithelial cell polarity. It connects ADP ribosylation
            factor 6 (ARF6) with the Par protein complex, which regulates the
            remodeling of adherens junctions and linear actin cable formation
            during epithelial cell polarization. Polymorphisms in this gene are
            associated with Alzheimer's disease, and also with nicotine
            dependence. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) encodes isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC151244.1, AB037715.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357447.7/ ENSP00000350032.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1039
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p13"
     Protein         1..1039
                     /product="FERM domain-containing protein 4A isoform a"
                     /note="FERM domain-containing protein 4A; FERM domain
                     containing 4"
                     /calculated_mol_wt=115328
     Region          18..106
                     /region_name="FERM_F1_FRMD4B"
                     /note="FERM (Four.1 protein, Ezrin, Radixin, Moesin)
                     domain, F1 sub-domain, found in FERM domain-containing
                     protein 4B (FRMD4B); cd17200"
                     /db_xref="CDD:340720"
     Region          21..221
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          217..327
                     /region_name="FERM_C_FRMD4A_FRMD4B"
                     /note="FERM domain C-lobe of FERM domain-containing
                     protein 4A and 4B (FRMD4A and 4B); cd13191"
                     /db_xref="CDD:270012"
     Site            order(225,242,244,253)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270012"
     Site            order(257,262..265,308,312,315..316)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270012"
     Site            308..319
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270012"
     Region          356..491
                     /region_name="DUF3338"
                     /note="Domain of unknown function (DUF3338); pfam11819"
                     /db_xref="CDD:432099"
     Region          358..420
                     /region_name="Necessary for interaction with CYTH1.
                     /evidence=ECO:0000250|UniProtKB:Q8BIE6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     Region          366..386
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     Site            530
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     Region          553..680
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     Region          579..939
                     /region_name="Necessary for tight junction and adherens
                     junction localization, Requires for interaction with
                     PARD3. /evidence=ECO:0000250|UniProtKB:Q8BIE6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     Site            604
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     Site            615
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     Site            681
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     Site            711
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BIE6; propagated from
                     UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     Region          713..756
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     Region          772..813
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     Site            800
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     Site            872
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     Region          879..968
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     Site            901
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     Region          980..1039
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2Q2.3)"
     CDS             1..1039
                     /gene="FRMD4A"
                     /gene_synonym="bA295P9.4; CCAFCA; FRMD4"
                     /coded_by="NM_018027.5:410..3529"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7101.1"
                     /db_xref="GeneID:55691"
                     /db_xref="HGNC:HGNC:25491"
                     /db_xref="MIM:616305"
ORIGIN      
        1 mavqlvpdsa lgllmmtegr rcqvhllddr klellvqpkl lakelldlva shfnlkekey
       61 fgiaftdetg hlnwlqldrr vlehdfpkks gpvvlyfcvr fyiesisylk dnatielffl
      121 naksciykel idvdsevvfe lasyilqeak gdfssnevvr sdlkklpalp tqalkehpsl
      181 aycedrvieh ykklngqtrg qaivnymsiv eslptygvhy yavkdkqgip wwlglsykgi
      241 fqydyhdkvk prkifqwrql enlyfrekkf svevhdprra svtrrtfghs giavhtwyac
      301 paliksiwam aisqhqfyld rkqskskiha arslseiaid ltetgtlkts klanmgskgk
      361 iisgssgsll ssgsqesdss qsakkdmlaa lksrqealee tlrqrleelk klclreaelt
      421 gklpveypld pgeeppivrr rigtafklde qkilpkgeea elerlerefa iqsqiteaar
      481 rlasdpnvsk klkkqrktsy lnalkklqei enainenrik sgkkptqras liiddgnias
      541 edsslsdalv lededsqvts tisplhsphk glpprppshn rppppqsleg lrqmhyhrnd
      601 ydkspikpkm wsessldepy ekvkkrsshs hssshkrfps tgscaeaggg snslqnspir
      661 glphwnsqss mpstpdlrvr sphyvhstrs vdisptrlhs lalhfrhrss slesqgkllg
      721 sendtgspdf ytprtrssng sdpmddcssc tshsssehyy paqmnanyst laedspskar
      781 qrqrqrqraa galgsassgs mpnlaargga ggaggagggv ylhsqsqpss qyrikeyply
      841 ieggatpvvv rslesdqegh ysvkaqfkts nsytagglfk eswrggggde gdtgrltpsr
      901 sqilrtpslg regahdkgag raavsdelrq wyqrstashk ehsrlshtss tssdsgsqys
      961 tssqstfvah srvtrmpqmc katsaalpqs qrsstpssei gatppssphh iltwqtgeat
     1021 enspildgse spphqstde
//
LOCUS       NP_004283                783 aa            linear   PRI 25-DEC-2022
DEFINITION  ras and Rab interactor 1 isoform 1 [Homo sapiens].
ACCESSION   NP_004283
VERSION     NP_004283.2
DBSOURCE    REFSEQ: accession NM_004292.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 783)
  AUTHORS   Kim M, Park J, Bouhaddou M, Kim K, Rojc A, Modak M, Soucheray M,
            McGregor MJ, O'Leary P, Wolf D, Stevenson E, Foo TK, Mitchell D,
            Herrington KA, Munoz DP, Tutuncuoglu B, Chen KH, Zheng F, Kreisberg
            JF, Diolaiti ME, Gordan JD, Coppe JP, Swaney DL, Xia B, van 't Veer
            L, Ashworth A, Ideker T and Krogan NJ.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   2  (residues 1 to 783)
  AUTHORS   Zhang W, Veisaga ML and Barbieri MA.
  TITLE     Role of RIN1 on telomerase activity driven by EGF-Ras mediated
            signaling in breast cancer
  JOURNAL   Exp Cell Res 396 (2), 112318 (2020)
   PUBMED   33069695
  REMARK    GeneRIF: Role of RIN1 on telomerase activity driven by EGF-Ras
            mediated signaling in breast cancer.
REFERENCE   3  (residues 1 to 783)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 783)
  AUTHORS   Kennedy SA, Jarboui MA, Srihari S, Raso C, Bryan K, Dernayka L,
            Charitou T, Bernal-Llinares M, Herrera-Montavez C, Krstic A,
            Matallanas D, Kotlyar M, Jurisica I, Curak J, Wong V, Stagljar I,
            LeBihan T, Imrie L, Pillai P, Lynn MA, Fasterius E, Al-Khalili
            Szigyarto C, Breen J, Kiel C, Serrano L, Rauch N, Rukhlenko O,
            Kholodenko BN, Iglesias-Martinez LF, Ryan CJ, Pilkington R,
            Cammareri P, Sansom O, Shave S, Auer M, Horn N, Klose F, Ueffing M,
            Boldt K, Lynn DJ and Kolch W.
  TITLE     Extensive rewiring of the EGFR network in colorectal cancer cells
            expressing transforming levels of KRASG13D
  JOURNAL   Nat Commun 11 (1), 499 (2020)
   PUBMED   31980649
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 783)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 783)
  AUTHORS   Afar DE, Han L, McLaughlin J, Wong S, Dhaka A, Parmar K, Rosenberg
            N, Witte ON and Colicelli J.
  TITLE     Regulation of the oncogenic activity of BCR-ABL by a tightly bound
            substrate protein RIN1
  JOURNAL   Immunity 6 (6), 773-782 (1997)
   PUBMED   9208849
REFERENCE   7  (residues 1 to 783)
  AUTHORS   Han L, Wong D, Dhaka A, Afar D, White M, Xie W, Herschman H, Witte
            O and Colicelli J.
  TITLE     Protein binding and signaling properties of RIN1 suggest a unique
            effector function
  JOURNAL   Proc Natl Acad Sci U S A 94 (10), 4954-4959 (1997)
   PUBMED   9144171
REFERENCE   8  (residues 1 to 783)
  AUTHORS   Han L and Colicelli J.
  TITLE     A human protein selected for interference with Ras function
            interacts directly with Ras and competes with Raf1
  JOURNAL   Mol Cell Biol 15 (3), 1318-1323 (1995)
   PUBMED   7862125
REFERENCE   9  (residues 1 to 783)
  AUTHORS   Colicelli J, Nicolette C, Birchmeier C, Rodgers L, Riggs M and
            Wigler M.
  TITLE     Expression of three mammalian cDNAs that interfere with RAS
            function in Saccharomyces cerevisiae
  JOURNAL   Proc Natl Acad Sci U S A 88 (7), 2913-2917 (1991)
   PUBMED   1849280
REFERENCE   10 (residues 1 to 783)
  AUTHORS   Trowbridge,I.S., Lesley,J., Trotter,J. and Hyman,R.
  TITLE     Thymocyte subpopulation enriched for progenitors with an
            unrearranged T-cell receptor beta-chain gene
  JOURNAL   Nature 315 (6021), 666-669 (1985)
   PUBMED   3874369
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            L36463.1, BC014417.1, BQ956294.1, BG163919.1 and AP001107.5.
            On Jul 6, 2005 this sequence version replaced NP_004283.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: L36463.1, SRR3476690.1091027.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311320.9/ ENSP00000310406.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..783
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     Protein         1..783
                     /product="ras and Rab interactor 1 isoform 1"
                     /note="ras inhibitor 1; ras inhibitor RIN1; ras inhibitor
                     JC99; ras interaction/interference protein 1"
                     /calculated_mol_wt=83968
     Region          1..53
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13671.4)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q13671.4)"
     Site            3
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q13671.4)"
     Site            16
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q13671.4)"
     Site            36
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by ABL1 and ABL2.
                     /evidence=ECO:0000269|PubMed:15886098; propagated from
                     UniProtKB/Swiss-Prot (Q13671.4)"
     Region          58..158
                     /region_name="SH2"
                     /note="Src homology 2 (SH2) domain; cl15255"
                     /db_xref="CDD:449520"
     Site            order(76,94,119,121)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198173"
     Site            order(120,147)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198173"
     Site            210
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q13671.4)"
     Region          250..282
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13671.4)"
     Site            258
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q13671.4)"
     Region          294..727
                     /region_name="Ras and 14-3-3 protein binding region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13671.4)"
     Region          295..342
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13671.4)"
     Site            333
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13671.4)"
     Site            337
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (Q13671.4)"
     Site            351
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKD/PRKD1.
                     /evidence=ECO:0000269|PubMed:11784866,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q13671.4)"
     Region          489..607
                     /region_name="VPS9"
                     /note="Domain present in VPS9; smart00167"
                     /db_xref="CDD:128469"
     Site            609
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13671.4)"
     Site            611
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13671.4)"
     Region          625..705
                     /region_name="Ubl1_cv_Nsp3_N-like"
                     /note="first ubiquitin-like (Ubl) domain located at the
                     N-terminus of coronavirus SARS-CoV non-structural protein
                     3 (Nsp3) and related proteins; cl28922"
                     /db_xref="CDD:452900"
     Site            692
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q13671.4)"
     Region          709..783
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13671.4)"
     CDS             1..783
                     /gene="RIN1"
                     /coded_by="NM_004292.3:33..2384"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS31614.1"
                     /db_xref="GeneID:9610"
                     /db_xref="HGNC:HGNC:18749"
                     /db_xref="MIM:605965"
ORIGIN      
        1 mespgesgag spgapspssf ttghlarekp aqdplydvpn asggqaggpq rpgrvvslre
       61 rllltrpvwl qlqanaaaal hmlrteppgt flvrksntrq cqalcmrlpe asgpsfvssh
      121 yilespggvs legselmfpd lvqlicaych trdilllplq lpraihhaat hkeleaishl
      181 giefwsssln ikaqrgpagg pvlpqlkars pqeldqgtga alcffnplfp gdlgptkrek
      241 fkrsfkvrvs tetssplspp avppppvpvl pgavpsqter lppcqllrre ssvgyrvpag
      301 sgpslppmps lqevdcgsps sseeegvpgs rgspatsphl grrrpllrsm saafcsllap
      361 erqvgraaaa lmqdrhtaag qlvqdlltqv ragpepqelq girqalsrar amlsaelgpe
      421 kllspkrleh vlekslhcsv lkplrpilaa rlrrrlaadg slgrlaeglr laraqgpgaf
      481 gshlslpspv eleqvrqkll qllrtyspsa qvkrllqack llymalrtqe gegagadefl
      541 pllslvlahc dlpellleae ymsellepsl ltgeggyylt slsaslalls glgqahtlpl
      601 spvqelrrsl slweqrrlpa thcfqhllrv ayqdpssgct sktlavppea siatlnqlca
      661 tkfrvtqpnt fglflykeqg yhrlppgala hrlpttgylv yrraewpetq gavteeegsg
      721 qsearsrgee qgcqgdgdag vkasprdire qsettaeggq gqaqegpaqp gepeaegsra
      781 aee
//
LOCUS       NP_001012774             412 aa            linear   PRI 25-DEC-2022
DEFINITION  zinc finger protein 260 [Homo sapiens].
ACCESSION   NP_001012774 XP_290838
VERSION     NP_001012774.1
DBSOURCE    REFSEQ: accession NM_001012756.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 412)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 412)
  AUTHORS   Debrus S, Rahbani L, Marttila M, Delorme B, Paradis P and Nemer M.
  TITLE     The zinc finger-only protein Zfp260 is a novel cardiac regulator
            and a nuclear effector of alpha1-adrenergic signaling
  JOURNAL   Mol Cell Biol 25 (19), 8669-8682 (2005)
   PUBMED   16166646
  REMARK    GeneRIF: Zfp260 is a novel transcriptional regulator in normal and
            pathological heart development and a nuclear effector of
            alpha1-adrenergic signaling
REFERENCE   3  (residues 1 to 412)
  AUTHORS   Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and
            Morton CC.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB283305.1, BC042676.1 and AC092295.2.
            On Mar 24, 2005 this sequence version replaced XP_290838.4.
            
            Transcript Variant: This variant (1) represents the longest
            transcript. All variants (1-4) encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC042676.1, SRR1803612.277277.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465407 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..412
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     Protein         1..412
                     /product="zinc finger protein 260"
                     /note="zfp-260"
                     /calculated_mol_wt=47091
     Region          25..406
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          29..49
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          57..77
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          85..130
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          138..158
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          166..186
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          194..214
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(199,201,203,205..206,209..210,213,227,229,233..234,
                     237..238,241,255,257,259,261..262,265..266,269)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          222..242
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          250..270
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          278..298
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          306..326
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          334..354
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(339,341,343,345..346,349..350,353,367,369,373..374,
                     377..378,381,395,397,399,401..402,405..406,409)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          362..382
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          390..410
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..412
                     /gene="ZNF260"
                     /gene_synonym="OZRF1; PEX1; ZFP260"
                     /coded_by="NM_001012756.3:848..2086"
                     /db_xref="CCDS:CCDS33003.1"
                     /db_xref="GeneID:339324"
                     /db_xref="HGNC:HGNC:13499"
                     /db_xref="MIM:613749"
ORIGIN      
        1 migmleslqh esdllqhdqi htgekpyecn ecrktfslkq nlvehkkmht gekshectec
       61 gkvcsrvssl tlhlrshtgk kaykcnkcgk afsqkenfls hqkhhtgekp yecekvsiqm
      121 ptiirhqknh tgtkpyacke cgkafngkay ltehekihtg ekpfecnqcg rafsqkqyli
      181 khqnihtgkk pfkcsecgka fsqkenliih qrihtgekpy eckgcgkafi qksslirhqr
      241 shtgekpytc kecgkafsgk snltehekih igekpykcne cgtifrqkqy likhhnihtg
      301 ekpyecnkcg kafsritsli vhvrihtgdk pyeckvcgka fcqsssltvh mrshtgekpy
      361 gcnecgkafs qfstlalhmr ihtgekpyqc secgkafsqk shhirhqrih th
//
LOCUS       NP_570124                475 aa            linear   PRI 25-DEC-2022
DEFINITION  ankyrin repeat, SAM and basic leucine zipper domain-containing
            protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_570124
VERSION     NP_570124.1
DBSOURCE    REFSEQ: accession NM_130768.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 475)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 475)
  AUTHORS   Wang Q, Liu X, Tang N, Archambeault DR, Li J, Song H, Tang C, He B,
            Matzuk MM and Wang Y.
  TITLE     GASZ promotes germ cell derivation from embryonic stem cells
  JOURNAL   Stem Cell Res 11 (2), 845-860 (2013)
   PUBMED   23816659
  REMARK    GeneRIF: Data reveal a potential role of GASZ during embryonic germ
            cell development and provide a powerful in vitro system for
            dissecting the molecular pathways in early germ cell formation
            during embryogenesis.
REFERENCE   3  (residues 1 to 475)
  AUTHORS   Liu CT, Monda KL, Taylor KC, Lange L, Demerath EW, Palmas W,
            Wojczynski MK, Ellis JC, Vitolins MZ, Liu S, Papanicolaou GJ, Irvin
            MR, Xue L, Griffin PJ, Nalls MA, Adeyemo A, Liu J, Li G,
            Ruiz-Narvaez EA, Chen WM, Chen F, Henderson BE, Millikan RC,
            Ambrosone CB, Strom SS, Guo X, Andrews JS, Sun YV, Mosley TH, Yanek
            LR, Shriner D, Haritunians T, Rotter JI, Speliotes EK, Smith M,
            Rosenberg L, Mychaleckyj J, Nayak U, Spruill I, Garvey WT, Pettaway
            C, Nyante S, Bandera EV, Britton AF, Zonderman AB, Rasmussen-Torvik
            LJ, Chen YD, Ding J, Lohman K, Kritchevsky SB, Zhao W, Peyser PA,
            Kardia SL, Kabagambe E, Broeckel U, Chen G, Zhou J,
            Wassertheil-Smoller S, Neuhouser ML, Rampersaud E, Psaty B,
            Kooperberg C, Manson JE, Kuller LH, Ochs-Balcom HM, Johnson KC,
            Sucheston L, Ordovas JM, Palmer JR, Haiman CA, McKnight B, Howard
            BV, Becker DM, Bielak LF, Liu Y, Allison MA, Grant SF, Burke GL,
            Patel SR, Schreiner PJ, Borecki IB, Evans MK, Taylor H, Sale MM,
            Howard V, Carlson CS, Rotimi CN, Cushman M, Harris TB, Reiner AP,
            Cupples LA, North KE and Fox CS.
  TITLE     Genome-wide association of body fat distribution in African
            ancestry populations suggests new loci
  JOURNAL   PLoS Genet 9 (8), e1003681 (2013)
   PUBMED   23966867
REFERENCE   4  (residues 1 to 475)
  AUTHORS   Schunkert H, Konig IR, Kathiresan S, Reilly MP, Assimes TL, Holm H,
            Preuss M, Stewart AF, Barbalic M, Gieger C, Absher D, Aherrahrou Z,
            Allayee H, Altshuler D, Anand SS, Andersen K, Anderson JL,
            Ardissino D, Ball SG, Balmforth AJ, Barnes TA, Becker DM, Becker
            LC, Berger K, Bis JC, Boekholdt SM, Boerwinkle E, Braund PS, Brown
            MJ, Burnett MS, Buysschaert I, Carlquist JF, Chen L, Cichon S, Codd
            V, Davies RW, Dedoussis G, Dehghan A, Demissie S, Devaney JM,
            Diemert P, Do R, Doering A, Eifert S, Mokhtari NE, Ellis SG, Elosua
            R, Engert JC, Epstein SE, de Faire U, Fischer M, Folsom AR, Freyer
            J, Gigante B, Girelli D, Gretarsdottir S, Gudnason V, Gulcher JR,
            Halperin E, Hammond N, Hazen SL, Hofman A, Horne BD, Illig T,
            Iribarren C, Jones GT, Jukema JW, Kaiser MA, Kaplan LM, Kastelein
            JJ, Khaw KT, Knowles JW, Kolovou G, Kong A, Laaksonen R, Lambrechts
            D, Leander K, Lettre G, Li M, Lieb W, Loley C, Lotery AJ, Mannucci
            PM, Maouche S, Martinelli N, McKeown PP, Meisinger C, Meitinger T,
            Melander O, Merlini PA, Mooser V, Morgan T, Muhleisen TW,
            Muhlestein JB, Munzel T, Musunuru K, Nahrstaedt J, Nelson CP,
            Nothen MM, Olivieri O, Patel RS, Patterson CC, Peters A, Peyvandi
            F, Qu L, Quyyumi AA, Rader DJ, Rallidis LS, Rice C, Rosendaal FR,
            Rubin D, Salomaa V, Sampietro ML, Sandhu MS, Schadt E, Schafer A,
            Schillert A, Schreiber S, Schrezenmeir J, Schwartz SM, Siscovick
            DS, Sivananthan M, Sivapalaratnam S, Smith A, Smith TB, Snoep JD,
            Soranzo N, Spertus JA, Stark K, Stirrups K, Stoll M, Tang WH,
            Tennstedt S, Thorgeirsson G, Thorleifsson G, Tomaszewski M,
            Uitterlinden AG, van Rij AM, Voight BF, Wareham NJ, Wells GA,
            Wichmann HE, Wild PS, Willenborg C, Witteman JC, Wright BJ, Ye S,
            Zeller T, Ziegler A, Cambien F, Goodall AH, Cupples LA, Quertermous
            T, Marz W, Hengstenberg C, Blankenberg S, Ouwehand WH, Hall AS,
            Deloukas P, Thompson JR, Stefansson K, Roberts R, Thorsteinsdottir
            U, O'Donnell CJ, McPherson R, Erdmann J and Samani NJ.
  CONSRTM   Cardiogenics; CARDIoGRAM Consortium
  TITLE     Large-scale association analysis identifies 13 new susceptibility
            loci for coronary artery disease
  JOURNAL   Nat Genet 43 (4), 333-338 (2011)
   PUBMED   21378990
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 475)
  AUTHORS   Zink D, Amaral MD, Englmann A, Lang S, Clarke LA, Rudolph C, Alt F,
            Luther K, Braz C, Sadoni N, Rosenecker J and Schindelhauer D.
  TITLE     Transcription-dependent spatial arrangements of CFTR and adjacent
            genes in human cell nuclei
  JOURNAL   J Cell Biol 166 (6), 815-825 (2004)
   PUBMED   15364959
REFERENCE   6  (residues 1 to 475)
  AUTHORS   Yan W, Rajkovic A, Viveiros MM, Burns KH, Eppig JJ and Matzuk MM.
  TITLE     Identification of Gasz, an evolutionarily conserved gene expressed
            exclusively in germ cells and encoding a protein with four ankyrin
            repeats, a sterile-alpha motif, and a basic leucine zipper
  JOURNAL   Mol Endocrinol 16 (6), 1168-1184 (2002)
   PUBMED   12040005
REFERENCE   7  (residues 1 to 475)
  AUTHORS   Zenklusen JC, Conti CJ and Green ED.
  TITLE     Mutational and functional analyses reveal that ST7 is a highly
            conserved tumor-suppressor gene on human chromosome 7q31
  JOURNAL   Nat Genet 27 (4), 392-398 (2001)
   PUBMED   11279520
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB457846.1 and AF461259.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF461259.1, AK093445.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000284629.7/ ENSP00000284629.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..475
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.2"
     Protein         1..475
                     /product="ankyrin repeat, SAM and basic leucine zipper
                     domain-containing protein 1 isoform 1"
                     /note="ankyrin-like 1; ankyrin repeat, SAM and basic
                     leucine zipper domain-containing protein 1; ankyrin-like
                     protein 1; germ cell-specific ankyrin, SAM and basic
                     leucine zipper domain-containing protein"
                     /calculated_mol_wt=53327
     Region          1..25
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWH4.1)"
     Site            17
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VD46; propagated from
                     UniProtKB/Swiss-Prot (Q8WWH4.1)"
     Site            18
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VD46; propagated from
                     UniProtKB/Swiss-Prot (Q8WWH4.1)"
     Site            20
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VD46; propagated from
                     UniProtKB/Swiss-Prot (Q8WWH4.1)"
     Region          45..74
                     /region_name="ANK 1. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWH4.1)"
     Region          54..232
                     /region_name="ANKYR"
                     /note="Ankyrin repeat [Signal transduction mechanisms];
                     COG0666"
                     /db_xref="CDD:223738"
     Region          78..109
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          78..107
                     /region_name="ANK 2. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWH4.1)"
     Site            order(110,112,116..117,121..123,125..126,134,137,146,148,
                     150,154..155,158..160,162..163,167,170,179,181,183,
                     187..188,191..193,195..196,200,203)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          110..146
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          110..144
                     /region_name="ANK 3. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWH4.1)"
     Region          148..179
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          148..177
                     /region_name="ANK 4. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWH4.1)"
     Region          181..210
                     /region_name="ANK 5. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWH4.1)"
     Region          181..206
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          214..243
                     /region_name="ANK 6. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWH4.1)"
     Region          272..334
                     /region_name="SAM_ASZ1"
                     /note="SAM domain of ASZ1 subfamily; cd09521"
                     /db_xref="CDD:188920"
     CDS             1..475
                     /gene="ASZ1"
                     /gene_synonym="ALP1; ANKL1; C7orf7; CT1.19; GASZ; Orf3"
                     /coded_by="NM_130768.3:34..1461"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5772.1"
                     /db_xref="GeneID:136991"
                     /db_xref="HGNC:HGNC:1350"
                     /db_xref="MIM:605797"
ORIGIN      
        1 maasalrglp vagggesses eddgweigyl drtsqklkrl lpieekkekf kkamtigdvs
       61 lvqelldsgi svdsnfqygw tplmyaasva naelvrvlld rganasfekd kqsilitacs
      121 ahgseeqilk cvelllsrna dpnvacrrlm tpimyaardg htqvvallva hgaevntqde
      181 ngytaltwaa rqghknivlk llelgankml qtkdgkmpse iakrnkhhei fnllsftlnp
      241 legklqqltk edtickiltt dsdrekdhif ssytafgdle vflhglgleh mtdllkerdi
      301 tlrhlltmre deftkngits kdqqkilaal kelqveeiqf gelseetkle isgdeflnfl
      361 lklnkqcghl itavqnvite lpvnsqkitl ewaspqnfts vceelvnnve dlsekvcklk
      421 dliqklqner endpthiqlr eevstwnsri lkrtaiticg fgfllfickl tfqrk
//
LOCUS       NP_742002                 93 aa            linear   PRI 25-DEC-2022
DEFINITION  WAP four-disulfide core domain protein 13 precursor [Homo sapiens].
ACCESSION   NP_742002
VERSION     NP_742002.1
DBSOURCE    REFSEQ: accession NM_172005.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 93)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 93)
  AUTHORS   Ferreira Z, Seixas S, Andres AM, Kretzschmar WW, Mullikin JC,
            Cherukuri PF, Cruz P, Swanson WJ, Clark AG, Green ED and Hurle B.
  CONSRTM   NISC Comparative Sequencing Program
  TITLE     Reproduction and immunity-driven natural selection in the human
            WFDC locus
  JOURNAL   Mol Biol Evol 30 (4), 938-950 (2013)
   PUBMED   23292442
REFERENCE   3  (residues 1 to 93)
  AUTHORS   Clauss A, Lilja H and Lundwall A.
  TITLE     The evolution of a genetic locus encoding small serine proteinase
            inhibitors
  JOURNAL   Biochem Biophys Res Commun 333 (2), 383-389 (2005)
   PUBMED   15950183
REFERENCE   4  (residues 1 to 93)
  AUTHORS   Clauss A, Lilja H and Lundwall A.
  TITLE     A locus on human chromosome 20 contains several genes expressing
            protease inhibitor domains with homology to whey acidic protein
  JOURNAL   Biochem J 368 (Pt 1), 233-242 (2002)
   PUBMED   12206714
REFERENCE   5  (residues 1 to 93)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF454505.1.
            
            Summary: This gene encodes a member of the WAP-type four-disulfide
            core (WFDC) domain family. The WFDC domain, or WAP signature motif,
            contains eight cysteines forming four disulfide bonds at the core
            of the protein, and functions as a protease inhibitor. Most WFDC
            gene members are localized to chromosome 20q12-q13 in two clusters:
            centromeric and telomeric. This gene belongs to the telomeric
            cluster. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF454505.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2144335
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305479.3/ ENSP00000302938.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..93
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     Protein         1..93
                     /product="WAP four-disulfide core domain protein 13
                     precursor"
                     /note="protease inhibitor WAP13; protein WFDC13; WAP
                     four-disulfide core domain protein 13"
                     /calculated_mol_wt=7978
     sig_peptide     1..22
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2426
     mat_peptide     23..93
                     /product="WAP four-disulfide core domain protein 13"
                     /calculated_mol_wt=7978
     Region          38..70
                     /region_name="WFDC domain"
     CDS             1..93
                     /gene="WFDC13"
                     /gene_synonym="C20orf138; dJ601O1.3; WAP13"
                     /coded_by="NM_172005.2:87..368"
                     /db_xref="CCDS:CCDS13367.1"
                     /db_xref="GeneID:164237"
                     /db_xref="HGNC:HGNC:16131"
ORIGIN      
        1 mkpvlplqfl vvfclalqlv pgspkqrvlk yilepppcis apencthlct mqedcekgfq
       61 ccssfcgivc ssetfqkrnr ikhkgsevim pan
//
LOCUS       NP_060012                609 aa            linear   PRI 25-DEC-2022
DEFINITION  pogo transposable element with KRAB domain isoform 1 [Homo
            sapiens].
ACCESSION   NP_060012
VERSION     NP_060012.3
DBSOURCE    REFSEQ: accession NM_017542.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 609)
  AUTHORS   Nievergelt CM, Maihofer AX, Mustapic M, Yurgil KA, Schork NJ,
            Miller MW, Logue MW, Geyer MA, Risbrough VB, O'Connor DT and Baker
            DG.
  TITLE     Genomic predictors of combat stress vulnerability and resilience in
            U.S. Marines: A genome-wide association study across multiple
            ancestries implicates PRTFDC1 as a potential PTSD gene
  JOURNAL   Psychoneuroendocrinology 51, 459-471 (2015)
   PUBMED   25456346
REFERENCE   2  (residues 1 to 609)
  AUTHORS   Taipale M, Krykbaeva I, Koeva M, Kayatekin C, Westover KD, Karras
            GI and Lindquist S.
  TITLE     Quantitative analysis of HSP90-client interactions reveals
            principles of substrate recognition
  JOURNAL   Cell 150 (5), 987-1001 (2012)
   PUBMED   22939624
REFERENCE   3  (residues 1 to 609)
  AUTHORS   Ehret GB, O'Connor AA, Weder A, Cooper RS and Chakravarti A.
  TITLE     Follow-up of a major linkage peak on chromosome 1 reveals
            suggestive QTLs associated with essential hypertension: GenNet
            study
  JOURNAL   Eur J Hum Genet 17 (12), 1650-1657 (2009)
   PUBMED   19536175
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 609)
  AUTHORS   Cheung CL, Chan BY, Chan V, Ikegawa S, Kou I, Ngai H, Smith D, Luk
            KD, Huang QY, Mori S, Sham PC and Kung AW.
  TITLE     Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible
            genetic association with bone mineral density variation
  JOURNAL   Hum Mol Genet 18 (4), 679-687 (2009)
   PUBMED   19064610
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 609)
  AUTHORS   Beausoleil SA, Villen J, Gerber SA, Rush J and Gygi SP.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
REFERENCE   6  (residues 1 to 609)
  AUTHORS   Greenhalf W, Lee J and Chaudhuri B.
  TITLE     A selection system for human apoptosis inhibitors using yeast
  JOURNAL   Yeast 15 (13), 1307-1321 (1999)
   PUBMED   10509013
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Hugh Robertson. The reference sequence was
            derived from DB049597.1, AB040946.1 and AL008639.15.
            On Jul 31, 2002 this sequence version replaced NP_060012.2.
            
            Summary: The exact function of the protein encoded by this gene is
            not known. However, this gene product contains a KRAB domain (which
            is involved in protein-protein interactions) at the N-terminus, and
            a transposase domain at the C-terminus, suggesting that it may
            belong to the family of DNA-mediated transposons in human.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.148292.1,
                                           SRR1803617.160233.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367876.9/ ENSP00000356850.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.1"
     Protein         1..609
                     /product="pogo transposable element with KRAB domain
                     isoform 1"
                     /note="KRAB box domain containing 2; pogo transposable
                     element with KRAB domain"
                     /calculated_mol_wt=69313
     Region          1..28
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P215.2)"
     Region          49..107
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          100..127
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P215.2)"
     Region          195..247
                     /region_name="BrkDBD"
                     /note="Brinker DNA-binding domain; pfam09607"
                     /db_xref="CDD:401517"
     Region          256..323
                     /region_name="CENPB"
                     /note="Putative DNA-binding domain in centromere protein
                     B, mouse jerky and transposases; smart00674"
                     /db_xref="CDD:197828"
     Region          395..567
                     /region_name="DDE_1"
                     /note="DDE superfamily endonuclease; pfam03184"
                     /db_xref="CDD:367380"
     Region          588..609
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P215.2)"
     CDS             1..609
                     /gene="POGK"
                     /gene_synonym="BASS2; KRBOX2; LST003"
                     /coded_by="NM_017542.5:133..1962"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1254.1"
                     /db_xref="GeneID:57645"
                     /db_xref="HGNC:HGNC:18800"
                     /db_xref="MIM:620039"
ORIGIN      
        1 mestayplnl slkeeeeeee iqsreledgp admqkvrics eggwvpalfd evaiyfsdee
       61 wevlteqqka lyrevmrmny etvlslefpf pkpdmitrle geeesqnsde wqlqggtsae
      121 neesdvkppd wpnpmnatsq fpqpqhfdsf glrlprdite lpewsegypf ymamgfpgyd
      181 lsaddiagkf qfsrgmrrsy dagfklmvve yaestnncqa akqfgvlekn vrdwrkvkpq
      241 lqnahamrra frgpkngrfa lvdqrvaeyv rymqakgdpi treamqlkal eiaqemnipe
      301 kgfkaslgwc rrmmrrydls lrhkvpvpqh lpedlteklv tyqrsvlalr rahdyevaqm
      361 gnadetpicl evpsrvtvdn qgekpvlvkt pgreklkita mlgvladgrk lppyiilrgt
      421 yippgkfpsg meirchrygw mtedlmqdwl evvwrrrtga vpkqrgmlil ngfrghatds
      481 vknsmesmnt dmviipgglt sqlqvldvvv ykplndsvra qysnwllagn lalsptgnak
      541 kpplglflew vmvawnsiss esivqgfkkc hissnleeed dvlweiesel pgggeppkdc
      601 dtesmaesn
//
LOCUS       NP_001171033             556 aa            linear   PRI 26-DEC-2022
DEFINITION  serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A
            beta isoform isoform d [Homo sapiens].
ACCESSION   NP_001171033
VERSION     NP_001171033.1
DBSOURCE    REFSEQ: accession NM_001177562.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 556)
  AUTHORS   Du M, Yuan L, Zhang Z, Zhang C, Zhu M, Zhang Z, Li R, Zhao X, Liang
            H, Li Y, Jiang H, Qiao J and Yin Y.
  TITLE     PPP2R1B is modulated by ubiquitination and is essential for
            spermatogenesis
  JOURNAL   FASEB J 35 (5), e21564 (2021)
   PUBMED   33913576
  REMARK    GeneRIF: PPP2R1B is modulated by ubiquitination and is essential
            for spermatogenesis.
REFERENCE   2  (residues 1 to 556)
  AUTHORS   Cui J, Wang H, Zhang X, Sun X, Zhang J and Ma J.
  TITLE     Exosomal miR-200c suppresses chemoresistance of docetaxel in tongue
            squamous cell carcinoma by suppressing TUBB3 and PPP2R1B
  JOURNAL   Aging (Albany NY) 12 (8), 6756-6773 (2020)
   PUBMED   32310826
  REMARK    GeneRIF: Exosomal miR-200c suppresses chemoresistance of docetaxel
            in tongue squamous cell carcinoma by suppressing TUBB3 and PPP2R1B.
REFERENCE   3  (residues 1 to 556)
  AUTHORS   Yadav L, Tamene F, Goos H, van Drogen A, Katainen R, Aebersold R,
            Gstaiger M and Varjosalo M.
  TITLE     Systematic Analysis of Human Protein Phosphatase Interactions and
            Dynamics
  JOURNAL   Cell Syst 4 (4), 430-444 (2017)
   PUBMED   28330616
REFERENCE   4  (residues 1 to 556)
  AUTHORS   Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA,
            Weisswange I, Mansfeld J, Buchholz F, Hyman AA and Mann M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   5  (residues 1 to 556)
  AUTHORS   Zhang Y, Talmon G and Wang J.
  TITLE     MicroRNA-587 antagonizes 5-FU-induced apoptosis and confers drug
            resistance by regulating PPP2R1B expression in colorectal cancer
  JOURNAL   Cell Death Dis 6 (8), e1845 (2015)
   PUBMED   26247730
  REMARK    GeneRIF: MicroRNA-587 antagonizes 5-fluorouracil-induced apoptosis
            and confers drug resistance by regulating PPP2R1B expression in
            colorectal cancer.
            Erratum:[Cell Death Dis. 2016 Dec 22;7(12 ):e2525. PMID: 28005075]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 556)
  AUTHORS   Adler HT, Nallaseth FS, Walter G and Tkachuk DC.
  TITLE     HRX leukemic fusion proteins form a heterocomplex with the
            leukemia-associated protein SET and protein phosphatase 2A
  JOURNAL   J Biol Chem 272 (45), 28407-28414 (1997)
   PUBMED   9353299
REFERENCE   7  (residues 1 to 556)
  AUTHORS   Tung HY, De Rocquigny H, Zhao LJ, Cayla X, Roques BP and Ozon R.
  TITLE     Direct activation of protein phosphatase-2A0 by HIV-1 encoded
            protein complex NCp7:vpr
  JOURNAL   FEBS Lett 401 (2-3), 197-201 (1997)
   PUBMED   9013886
REFERENCE   8  (residues 1 to 556)
  AUTHORS   Hendrix P, Mayer-Jackel RE, Cron P, Goris J, Hofsteenge J,
            Merlevede W and Hemmings BA.
  TITLE     Structure and expression of a 72-kDa regulatory subunit of protein
            phosphatase 2A. Evidence for different size forms produced by
            alternative splicing
  JOURNAL   J Biol Chem 268 (20), 15267-15276 (1993)
   PUBMED   8392071
REFERENCE   9  (residues 1 to 556)
  AUTHORS   Kamibayashi C, Lickteig RL, Estes R, Walter G and Mumby MC.
  TITLE     Expression of the A subunit of protein phosphatase 2A and
            characterization of its interactions with the catalytic and
            regulatory subunits
  JOURNAL   J Biol Chem 267 (30), 21864-21872 (1992)
   PUBMED   1328247
REFERENCE   10 (residues 1 to 556)
  AUTHORS   Hemmings BA, Adams-Pearson C, Maurer F, Muller P, Goris J,
            Merlevede W, Hofsteenge J and Stone SR.
  TITLE     alpha- and beta-forms of the 65-kDa subunit of protein phosphatase
            2A have a similar 39 amino acid repeating structure
  JOURNAL   Biochemistry 29 (13), 3166-3173 (1990)
   PUBMED   2159327
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC402587.1, AK294716.1,
            AP001781.5, AF163473.1 and AP000925.6.
            
            Summary: This gene encodes a constant regulatory subunit of protein
            phosphatase 2. Protein phosphatase 2 is one of the four major
            Ser/Thr phosphatases, and it is implicated in the negative control
            of cell growth and division. It consists of a common heteromeric
            core enzyme, which is composed of a catalytic subunit and a
            constant regulatory subunit, that associates with a variety of
            regulatory subunits. The constant regulatory subunit A serves as a
            scaffolding molecule to coordinate the assembly of the catalytic
            subunit and a variable regulatory B subunit. This gene encodes a
            beta isoform of the constant regulatory subunit A. Mutations in
            this gene have been associated with some lung and colon cancers.
            Alternatively spliced transcript variants have been described.
            [provided by RefSeq, Apr 2010].
            
            Transcript Variant: This variant (4) lacks an in-frame exon in the
            coding region compared to variant 1. The resulting isoform (d) is
            shorter than isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.235679.1,
                                           SRR1803615.120435.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..556
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.1"
     Protein         1..556
                     /product="serine/threonine-protein phosphatase 2A 65 kDa
                     regulatory subunit A beta isoform isoform d"
                     /EC_number="3.1.3.16"
                     /note="protein phosphatase 2, structural/regulatory
                     subunit A, beta; protein phosphatase 2, regulatory subunit
                     A, beta"
                     /calculated_mol_wt=61183
     Region          25..49
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(41..42,45,48..49,79..80,83,86..87,90,118..119,122,
                     125..126,129,157..158,161,164..165)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          63..90
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          100..130
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          139..165
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          <177..>392
                     /region_name="HEAT"
                     /note="HEAT repeat [General function prediction only];
                     COG1413"
                     /db_xref="CDD:224331"
     Region          217..245
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          257..281
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(273..274,277,280..281,312..313,353,356..357,360,
                     388..389,392,395..396,399,427..428,431,434..435,466..467,
                     470,473..474)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          295..360
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          370..400
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          409..435
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          446..475
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          485..511
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          524..553
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     CDS             1..556
                     /gene="PPP2R1B"
                     /gene_synonym="PP2A-Abeta; PR65B"
                     /coded_by="NM_001177562.2:29..1699"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS53708.1"
                     /db_xref="GeneID:5519"
                     /db_xref="HGNC:HGNC:9303"
                     /db_xref="MIM:603113"
ORIGIN      
        1 magaselgtg pgaaggdgdd slypiavlid elrnedvqlr lnsikklsti alalgvertr
       61 sellpfltdt iydedevlla laeqlgnftg lvggpdfahc llpplenlat veetvvrdka
      121 veslrqisqe htpvaleayf vplvkrlasg dwftsrtsac glfsvcypra snavkaeirq
      181 qfrslcsddt pmvrraaask lgefakvlel dsvkseivpl ftslasdeqd svrllaveac
      241 vsiaqllsqd dletlvmptl rqaaedkswr vrymvadrfs elqkamgpki tlndlipafq
      301 nllkdceaev raaaahkvke lgenlpiedr etiimnqilp yikcpdvrln iisnldcvne
      361 vigirqlsqs llpaivelae dakwrvrlai ieympllagq lgveffdekl nslcmawlvd
      421 hvyaireaat nnlmklvqkf gtewaqntiv pkvlvmandp nylhrmttlf cinalseacg
      481 qeittkqmlp ivlkmagdqv anvrfnvaks lqkigpildt nalqgevkpv lqklgqdedm
      541 dvkyfaqeai svlala
//
LOCUS       NP_001273135            1327 aa            linear   PRI 26-DEC-2022
DEFINITION  centrosomal protein of 162 kDa isoform b [Homo sapiens].
ACCESSION   NP_001273135 XP_005248733
VERSION     NP_001273135.1
DBSOURCE    REFSEQ: accession NM_001286206.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1327)
  AUTHORS   Gupta GD, Coyaud E, Goncalves J, Mojarad BA, Liu Y, Wu Q,
            Gheiratmand L, Comartin D, Tkach JM, Cheung SW, Bashkurov M,
            Hasegan M, Knight JD, Lin ZY, Schueler M, Hildebrandt F, Moffat J,
            Gingras AC, Raught B and Pelletier L.
  TITLE     A Dynamic Protein Interaction Landscape of the Human
            Centrosome-Cilium Interface
  JOURNAL   Cell 163 (6), 1484-1499 (2015)
   PUBMED   26638075
REFERENCE   2  (residues 1 to 1327)
  AUTHORS   Awata T, Yamashita H, Kurihara S, Morita-Ohkubo T, Miyashita Y,
            Katayama S, Mori K, Yoneya S, Kohda M, Okazaki Y, Maruyama T,
            Shimada A, Yasuda K, Nishida N, Tokunaga K and Koike A.
  TITLE     A genome-wide association study for diabetic retinopathy in a
            Japanese population: potential association with a long intergenic
            non-coding RNA
  JOURNAL   PLoS One 9 (11), e111715 (2014)
   PUBMED   25364816
  REMARK    Erratum:[PLoS One. 2015;10(4):e0126789. PMID: 25910184]
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1327)
  AUTHORS   Wang WJ, Tay HG, Soni R, Perumal GS, Goll MG, Macaluso FP, Asara
            JM, Amack JD and Tsou MF.
  TITLE     CEP162 is an axoneme-recognition protein promoting ciliary
            transition zone assembly at the cilia base
  JOURNAL   Nat Cell Biol 15 (6), 591-601 (2013)
   PUBMED   23644468
  REMARK    GeneRIF: CEP162 is an axoneme-recognition protein pre-tethered at
            centriole distal ends before ciliogenesis to promote and restrict
            transition zone formation specifically at the cilia base.
REFERENCE   4  (residues 1 to 1327)
  AUTHORS   Jakobsen L, Vanselow K, Skogs M, Toyoda Y, Lundberg E, Poser I,
            Falkenby LG, Bennetzen M, Westendorf J, Nigg EA, Uhlen M, Hyman AA
            and Andersen JS.
  TITLE     Novel asymmetrically localizing components of human centrosomes
            identified by complementary proteomics methods
  JOURNAL   EMBO J 30 (8), 1520-1535 (2011)
   PUBMED   21399614
REFERENCE   5  (residues 1 to 1327)
  AUTHORS   Leon A, Omri B, Gely A, Klein C and Crisanti P.
  TITLE     QN1/KIAA1009: a new essential protein for chromosome segregation
            and mitotic spindle assembly
  JOURNAL   Oncogene 25 (13), 1887-1895 (2006)
   PUBMED   16302001
  REMARK    GeneRIF: QN1/KIAA1009 is a new microtubule-associated ATPase
            involved in cell division
REFERENCE   6  (residues 1 to 1327)
  AUTHORS   Tomsig JL, Snyder SL and Creutz CE.
  TITLE     Identification of targets for calcium signaling through the copine
            family of proteins. Characterization of a coiled-coil
            copine-binding motif
  JOURNAL   J Biol Chem 278 (12), 10048-10054 (2003)
   PUBMED   12522145
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL138742.24, CD684914.1, AB023226.1, BC063632.1 and AW069289.1.
            On Oct 31, 2013 this sequence version replaced XP_005248733.1.
            
            Transcript Variant: This variant (2) lacks an alternate exon but
            includes a different alternate exon in the 5' region, and it thus
            differs in its 5' UTR and initiates translation at a downstream
            in-frame start codon, compared to variant 1. The encoded isoform
            (b) is shorter at the N-terminus, compared to isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB023226.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.2-q14.3"
     Protein         1..1327
                     /product="centrosomal protein of 162 kDa isoform b"
                     /note="protein QN1 homolog; centrosomal protein of 162
                     kDa; centrosomal protein 162kDa"
                     /calculated_mol_wt=152930
     Region          <596..1309
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..1327
                     /gene="CEP162"
                     /gene_synonym="C6orf84; KIAA1009; QN1"
                     /coded_by="NM_001286206.2:298..4281"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS69149.1"
                     /db_xref="GeneID:22832"
                     /db_xref="HGNC:HGNC:21107"
                     /db_xref="MIM:610201"
ORIGIN      
        1 meieeesaek iqflkssgts llstdsletn elvvselnhs slgvgldtle eqeekeqffa
       61 rlekgltssi dysrlnkeld sndsthfkal hsnqanaelt ddeheneskh eelaenysdd
      121 fedeyvgapl ttkdeempsk ensksekisv pkqeeektgm lanvvlldsl dsvaevnlde
      181 qdkitpkprc lpemtenemt gtgvsygqss sdvealhqay chiahslgde dkqkiesntv
      241 edikssvkgh pqeneenskn istmesdlpt veelmkpiri dsfgisgfdl qpvssekvae
      301 rketeffssl plkmnpnils qdsqhvnlff dkndenvilq kttnesmens cpqvtevtat
      361 eehvdkmyln ilrkkitvns sslsqddkin ktyrsqlsse eegavmgkqv pykkarsapp
      421 llkrkpqsgl yasvrssgyg kpssplkmfs tlekktsedi iksknlrsis tsnqprkkei
      481 lsgtklikpa aldkpahkte sclstrkkse nptetdsciq fqtdslgycg enkekkllmf
      541 krvqeaedkw rgaqalieqi katfsekeke lenkleelkk qqekelfkln qdnyilqakl
      601 ssfeetnkkq rwlhfgeaad pvtgeklkqi qkeiqeqetl lqgyqqener lynqvkdlqe
      661 qnkkneermf kenqslfsev aslkeqmhks rflsqvveds eptrnqnftd llaelrmaqk
      721 ekdslledik rlkqdkqale vdfekmkker dqakdqiayv tgeklyeiki leethkqeis
      781 rlqkrlqwya enqelldkda lrlreaneei eklkleiekl kaesgnpsir qkirlkdkaa
      841 dakkiqdler qvkemegilk rrypnslpal ilaasaagdt vdkntvefme krikkleadl
      901 egkdedakks lrtmeqqfqk mkiqyeqrle qqeqllackl nqhdsprika lekelddike
      961 ahqitvrnle aeidvlkhqn aeldvkkndk ddedfqsief qveqahakak lvrlneelaa
     1021 kkreiqdlsk tverlqkdrr mmlsnqnskg reemsakrak kdvlhsskgn ansfpgtlds
     1081 klyqphtftd shvsevlqen yrlknelegl iseknelkmk seavmnqfen smrrvkedta
     1141 ahiaslkash qreiekllcq navenssskv aelnrkiatq evlirhfqsq vnelqskqes
     1201 lvvsevreei lqkeitklle elreakenht pemkhfvgle kkikqmemrh aqreqelqqi
     1261 iqqthqvvet eqnkevekwk rlaqlknrel ekfrteldsi ldvlrelhrq gvvvpvafad
     1321 emnapey
//
LOCUS       NP_001295137            1083 aa            linear   PRI 27-DEC-2022
DEFINITION  rho GTPase-activating protein 39 isoform 1 [Homo sapiens].
ACCESSION   NP_001295137 XP_005272401
VERSION     NP_001295137.1
DBSOURCE    REFSEQ: accession NM_001308208.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1083)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen
            AA, Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke
            L, Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM,
            Tiemeier H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst
            FC, Ward ME, Wright MJ, Davey Smith G, Deary IJ, Johannesson M,
            Plomin R, Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   2  (residues 1 to 1083)
  AUTHORS   Argos M, Tong L, Pierce BL, Rakibuz-Zaman M, Ahmed A, Islam T,
            Rahman M, Paul-Brutus R, Rahaman R, Roy S, Jasmine F, Kibriya MG
            and Ahsan H.
  TITLE     Genome-wide association study of smoking behaviours among
            Bangladeshi adults
  JOURNAL   J Med Genet 51 (5), 327-333 (2014)
   PUBMED   24665060
REFERENCE   3  (residues 1 to 1083)
  AUTHORS   Lim J, Ritt DA, Zhou M and Morrison DK.
  TITLE     The CNK2 scaffold interacts with vilse and modulates Rac cycling
            during spine morphogenesis in hippocampal neurons
  JOURNAL   Curr Biol 24 (7), 786-792 (2014)
   PUBMED   24656827
REFERENCE   4  (residues 1 to 1083)
  AUTHORS   Hu H, Li M, Labrador JP, McEwen J, Lai EC, Goodman CS and Bashaw
            GJ.
  TITLE     Cross GTPase-activating protein (CrossGAP)/Vilse links the
            Roundabout receptor to Rac to regulate midline repulsion
  JOURNAL   Proc Natl Acad Sci U S A 102 (12), 4613-4618 (2005)
   PUBMED   15755809
REFERENCE   5  (residues 1 to 1083)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF186192.5, DA118202.1, AK296353.1 and AB051475.1.
            On Apr 27, 2015 this sequence version replaced XP_005272401.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296353.1, SRR14038192.4228935.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1083
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..1083
                     /product="rho GTPase-activating protein 39 isoform 1"
                     /note="crossGAP homolog; RhoGAP93B homolog"
                     /calculated_mol_wt=121155
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9C0H5.2)"
     Region          19..>95
                     /region_name="PRP40"
                     /note="Splicing factor [RNA processing and modification];
                     COG5104"
                     /db_xref="CDD:227435"
     Region          110..154
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0H5.2)"
     Region          115..>369
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Site            169
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9C0H5.2)"
     Region          226..369
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0H5.2)"
     Region          <245..543
                     /region_name="PHA03378"
                     /note="EBNA-3B; Provisional"
                     /db_xref="CDD:223065"
     Site            286
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9C0H5.2)"
     Site            384
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P59281; propagated from
                     UniProtKB/Swiss-Prot (Q9C0H5.2)"
     Site            388
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9C0H5.2)"
     Region          405..545
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0H5.2)"
     Site            406
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9C0H5.2)"
     Site            407
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9C0H5.2)"
     Region          570..599
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0H5.2)"
     Site            604
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9C0H5.2)"
     Site            690
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9C0H5.2)"
     Site            715
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P59281; propagated from
                     UniProtKB/Swiss-Prot (Q9C0H5.2)"
     Site            726
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P59281; propagated from
                     UniProtKB/Swiss-Prot (Q9C0H5.2)"
     Region          767..877
                     /region_name="MyTH4"
                     /note="MyTH4 domain; pfam00784"
                     /db_xref="CDD:425869"
     Region          888..1073
                     /region_name="RhoGAP_KIAA1688"
                     /note="GTPase-activator protein (GAP) domain for Rho-like
                     GTPases found in KIAA1688-like proteins; KIAA1688 is a
                     protein of unknown function that contains a RhoGAP domain
                     and a myosin tail homology 4 (MyTH4) domain. Small GTPases
                     cluster into distinct families; cd04389"
                     /db_xref="CDD:239854"
     Site            order(932,967,971,1036,1039..1040,1064)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239854"
     Site            932
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239854"
     CDS             1..1083
                     /gene="ARHGAP39"
                     /gene_synonym="CrGAP; Vilse"
                     /coded_by="NM_001308208.2:243..3494"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS78374.1"
                     /db_xref="GeneID:80728"
                     /db_xref="HGNC:HGNC:29351"
                     /db_xref="MIM:615880"
ORIGIN      
        1 msqtqdyecr shnvdlpesr ipgsntrlew veiieprtre rmyanlvtge cvwdppagvr
       61 ikrtsenqww elfdpntsrf yyynastqrt vwhrpqgcdi iplaklqtlk qntesprasa
      121 esspgrgssv sregstsssl epepdtekaq elparagrpa afgtvkedsg sssppgvfle
      181 kdyeiyrdys adgqllhyrt sslrwnsgak ermlikvadr epsflaaqgn gyapdgppgv
      241 rsrrpsgsqh spslqtfape adgtiffper rpspflkrae lpgsssplla qprkpsgdsq
      301 pssprygyep plyeeppvey qapiydeppm dvqfeagggy qagspqrspg rkprpflqpn
      361 kqgppspcqq lvltkqkcpe rflsleyspa gkeyvrqlvy veqagsspkl ragprhkyap
      421 npgggsyslq pspcllrdqr lgvksgdyst megpelrhsq pptplpqaqe damswssqqd
      481 tlsstgyspg trkrksrkps lcqatsatpt egpgdllveq plaeeqppcg tslapvkrae
      541 geaegargaa epflaqarla weaqqahfhm kqrsswdsqq dgsgyesdga lplpmpgpvv
      601 rafsedeala qqenrhwrrg tfeklgfpqi lleksvsvqt nlaspepylh psqsedlaac
      661 aqfessrqsr sgvpssscvf ptftlrkpss etdienwask hfnkhtqglf rrkvsianml
      721 awssesikkp mivtsdrhvk keacelfkli qmymgdrrak adplhvalev atkgwsvqgl
      781 rdelyiqlcr qttenfrles largwelmai claffpptpk fhsylegyiy rhmdpvndtk
      841 gvaistyaky cyhklqkaal tgakkglkkp nveeirhakn avfspsmfgs alqevmgmqr
      901 eryperqlpw vqtrlseevl alngdqtegi frvpgdidev nalklqvdqw kvptgledph
      961 vpasllklwy releepliph efyeqciahy dspeaavavv halprinrmv lcylirflqv
     1021 fvqpanvavt kmdvsnlamv mapnclrcqs ddprvifent rkemsflrvl iqhldtsfme
     1081 gvl
//
LOCUS       NP_001340502             776 aa            linear   PRI 27-DEC-2022
DEFINITION  intraflagellar transport protein 88 homolog isoform 8 [Homo
            sapiens].
ACCESSION   NP_001340502 XP_016876255
VERSION     NP_001340502.1
DBSOURCE    REFSEQ: accession NM_001353573.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 776)
  AUTHORS   Chan HYE and Chen ZS.
  TITLE     Multifaceted investigation underlies diverse mechanisms
            contributing to the downregulation of Hedgehog pathway-associated
            genes INTU and IFT88 in lung adenocarcinoma and uterine corpus
            endometrial carcinoma
  JOURNAL   Aging (Albany NY) 14 (19), 7794-7823 (2022)
   PUBMED   36084949
  REMARK    GeneRIF: Multifaceted investigation underlies diverse mechanisms
            contributing to the downregulation of Hedgehog pathway-associated
            genes INTU and IFT88 in lung adenocarcinoma and uterine corpus
            endometrial carcinoma.
REFERENCE   2  (residues 1 to 776)
  AUTHORS   Tang L, Zhang Y, Zhou Q, Hong Q and Wang Z.
  TITLE     The Relationship between Ultrasonographic Features of
            Hepatocellular Carcinoma and the Severity of Hepatocellular
            Carcinoma and the Expression of PTEN and Tg737
  JOURNAL   J Healthc Eng 2022, 2608633 (2022)
   PUBMED   35368955
  REMARK    GeneRIF: The Relationship between Ultrasonographic Features of
            Hepatocellular Carcinoma and the Severity of Hepatocellular
            Carcinoma and the Expression of PTEN and Tg737.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 776)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 776)
  AUTHORS   Stevens EM, Vladar EK, Alanin MC, Christensen ST, von Buchwald C
            and Milla C.
  TITLE     Ciliary Localization of the Intraflagellar Transport Protein IFT88
            Is Disrupted in Cystic Fibrosis
  JOURNAL   Am J Respir Cell Mol Biol 62 (1), 120-123 (2020)
   PUBMED   31891309
  REMARK    GeneRIF: The Intraflagellar Transport Protein IFT88 Is Disrupted in
            Cystic Fibrosis.
REFERENCE   5  (residues 1 to 776)
  AUTHORS   Taulet N, Douanier A, Vitre B, Anguille C, Maurin J, Dromard Y,
            Georget V and Delaval B.
  TITLE     IFT88 controls NuMA enrichment at k-fibers minus-ends to facilitate
            their re-anchoring into mitotic spindles
  JOURNAL   Sci Rep 9 (1), 10311 (2019)
   PUBMED   31312011
  REMARK    GeneRIF: IFT88 controls NuMA enrichment at k-fibers minus-ends to
            facilitate their re-anchoring into mitotic spindles.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 776)
  AUTHORS   Khanna H, Hurd TW, Lillo C, Shu X, Parapuram SK, He S, Akimoto M,
            Wright AF, Margolis B, Williams DS and Swaroop A.
  TITLE     RPGR-ORF15, which is mutated in retinitis pigmentosa, associates
            with SMC1, SMC3, and microtubule transport proteins
  JOURNAL   J Biol Chem 280 (39), 33580-33587 (2005)
   PUBMED   16043481
REFERENCE   7  (residues 1 to 776)
  AUTHORS   Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD and
            Sanderson CM.
  TITLE     Analysis of a high-throughput yeast two-hybrid system and its use
            to predict the function of intracellular proteins encoded within
            the human MHC class III region
  JOURNAL   Genomics 83 (1), 153-167 (2004)
   PUBMED   14667819
REFERENCE   8  (residues 1 to 776)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N,
            Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar
            M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   9  (residues 1 to 776)
  AUTHORS   Murcia NS, Sweeney WE Jr and Avner ED.
  TITLE     New insights into the molecular pathophysiology of polycystic
            kidney disease
  JOURNAL   Kidney Int 55 (4), 1187-1197 (1999)
   PUBMED   10200981
  REMARK    Review article
REFERENCE   10 (residues 1 to 776)
  AUTHORS   Schrick JJ, Onuchic LF, Reeders ST, Korenberg J, Chen XN, Moyer JH,
            Wilkinson JE and Woychik RP.
  TITLE     Characterization of the human homologue of the mouse Tg737
            candidate polycystic kidney disease gene
  JOURNAL   Hum Mol Genet 4 (4), 559-567 (1995)
   PUBMED   7633404
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590096.16 and AL161772.17.
            On Jul 19, 2017 this sequence version replaced XP_016876255.1.
            
            Summary: This gene encodes a member of the tetratrico peptide
            repeat (TPR) family. The encoded protein is involved in cilium
            biogenesis. Mutations of a similar gene in mouse can cause
            polycystic kidney disease. Several transcript variants encoding
            distinct isoforms have been identified for this gene. [provided by
            RefSeq, Jul 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2233094.1,
                                           SRR14038193.4103591.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..776
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.11"
     Protein         1..776
                     /product="intraflagellar transport protein 88 homolog
                     isoform 8"
                     /note="polaris homolog; tetratricopeptide repeat domain
                     10; TPR repeat protein 10; recessive polycystic kidney
                     disease protein Tg737 homolog; probe hTg737 (polycystic
                     kidney disease, autosomal recessive); intraflagellar
                     transport protein 88 homolog; intraflagellar transport 88
                     homolog; tetratricopeptide repeat protein 10; testicular
                     tissue protein Li 93"
                     /calculated_mol_wt=87983
     Region          178..206
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          <184..664
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     Site            order(219,222..223,225,254,257..258,261..262,264..265,287,
                     290..291,294..295,298)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          219..242
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          252..282
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          286..313
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          371..394
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          404..430
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          436..464
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(437,440..441,444..445,447,471,474..475,478..479,
                     481..482,505,508..509,512..513,516)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          469..499
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          504..532
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          538..566
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          572..598
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          606..630
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          640..667
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..776
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /coded_by="NM_001353573.2:107..2437"
                     /note="isoform 8 is encoded by transcript variant 14"
                     /db_xref="GeneID:8100"
                     /db_xref="HGNC:HGNC:20606"
                     /db_xref="MIM:600595"
ORIGIN      
        1 mmqnvhlape tdeddlysgy ndynpiydie elendaafqq avrtshgrrp psktslassi
       61 grpmtgaiqd gvtrpmtavr aagftkaalr gsafdplsqs rgpaspleak kkdspeekik
      121 qlekevnelv eescianscg dlklalekak dagrkervlv rqreqvttpe ninldltysv
      181 lfnlasqysv nemyaealnt yqvivknkmf snagilkmnm gniylkqrny skaikfyrma
      241 ldqvpsvnkq mrikimqnig vtfiqagqys dainsyehim smapnlkagy nlticyfaig
      301 drekmkkafq klitvpleid edkyispsdd phtnlvteai kndhlrqmer ercvevvkas
      361 qyvelandle inkavtylrq kdynqaveil kvlekkdsrv ksaaatnlsa lyymgkdfaq
      421 assyadiavn sdrynpaalt nkgntvfang dyekaaefyk ealrndssct ealyniglty
      481 eklnrldeal dcflklhail rnsaevlyqi aniyelmenp sqaiewlmqv vsviptdpqv
      541 lsklgelydr egdksqafqy yyesyryfpc nieviewlga yyidtqfwek aiqyferasl
      601 iqptqvkwql mvascfrrsg nyqkaldtyk dthrkfpenv eclrflvrlc tdlglkdaqe
      661 yarklkrlek mkeireqrik sgrdgsggsr gkregsasgd sgqnysassk gerlsarlra
      721 lpgtnepyes ssnkeidasy vdplgpqier pktaakkrid eddfadeelg ddllpe
//
LOCUS       NP_001363226             412 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger protein 821 isoform 1 [Homo sapiens].
ACCESSION   NP_001363226 XP_006721296
VERSION     NP_001363226.1
DBSOURCE    REFSEQ: accession NM_001376297.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 412)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   2  (residues 1 to 412)
  AUTHORS   Nonaka Y, Muto H, Aizawa T, Okabe E, Myoba S, Yokoyama T, Saito S,
            Tatami F, Kumaki Y, Kamiya M, Kikukawa T, Mizuguchi M, Takiya S,
            Kinjo M, Demura M and Kawano K.
  TITLE     STPR, a 23-amino acid tandem repeat domain, found in the human
            function-unknown protein ZNF821
  JOURNAL   Biochemistry 49 (38), 8367-8375 (2010)
   PUBMED   20795678
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009127.10 and AC010653.10.
            On Nov 13, 2019 this sequence version replaced XP_006721296.1.
            
            Summary: This gene encodes a protein with two C2H2 zinc finger
            motifs and a score-and-three (23)-amino acid peptide repeat (STPR)
            domain. The STPR domain of the encoded protein binds to double
            stranded DNA and may also contain a nuclear localization signal,
            suggesting that this protein interacts with chromosomal DNA.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Jan
            2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1507955.1,
                                           SRR14038193.4446621.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..412
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.2"
     Protein         1..412
                     /product="zinc finger protein 821 isoform 1"
                     /calculated_mol_wt=46663
     Region          26..83
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75541.3)"
     Region          120..140
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(125,127,129,131..132,135..136,139,157,159,163..164,
                     167..168,171,185,187,189,191..192)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          150..172
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          152..172
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <242..382
                     /region_name="COG2433"
                     /note="Possible nuclease of RNase H fold, RuvC/YqgF family
                     [General function prediction only]"
                     /db_xref="CDD:225288"
     Region          278..319
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75541.3)"
     Region          <293..354
                     /region_name="DUF1682"
                     /note="Protein of unknown function (DUF1682); pfam07946"
                     /db_xref="CDD:429750"
     CDS             1..412
                     /gene="ZNF821"
                     /coded_by="NM_001376297.1:204..1442"
                     /note="isoform 1 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS56006.1"
                     /db_xref="GeneID:55565"
                     /db_xref="HGNC:HGNC:28043"
ORIGIN      
        1 msrrkqtnpn kvhwdqvfag leeqarqamm ktdfpgdlgs qrqaiqqlrd qdssssdseg
       61 deeettqdev sshtseedgg vvkvekelen teqpvggnev vehevtgnln sdpllelcqc
      121 plcqldcgsr eqliahvyqh taavvsaksy mcpvcgrals spgslgrhll ihsedqrsnc
      181 avcgarftsh atfnseklpe vlnmeslptv hnegpssaeg kdiafsppvy pagillvcnn
      241 caayrkllea qtpsvrkwal rrqneplevr lqrlererta kksrrdnetp eerevrrmrd
      301 reakrlqrmq etdeqrarrl qrdreamrlk ranetpekrq arlirereak rlkrrlekmd
      361 mmlraqfgqd psamaalaae mnffqlpvsg veldsqllgk mafeeqnsss lh
//
LOCUS       NP_001363467             812 aa            linear   PRI 28-DEC-2022
DEFINITION  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 6
            [Homo sapiens].
ACCESSION   NP_001363467 XP_006711029
VERSION     NP_001363467.1
DBSOURCE    REFSEQ: accession NM_001376538.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 812)
  AUTHORS   Xie GF, Xu YX, Xu F, Sun LY, Ye ZL, Ma JJ, Wang HY and Shao JY.
  TITLE     Plasma SGIP1 methylation in diagnosis and prognosis prediction in
            hepatocellular carcinoma
  JOURNAL   Neoplasma 68 (1), 62-70 (2021)
   PUBMED   33118832
  REMARK    GeneRIF: Plasma SGIP1 methylation in diagnosis and prognosis
            prediction in hepatocellular carcinoma.
REFERENCE   2  (residues 1 to 812)
  AUTHORS   Zhang Y, Feng Y, Xin Y and Liu X.
  TITLE     SGIP1 dimerizes via intermolecular disulfide bond in muHD domain
            during cellular endocytosis
  JOURNAL   Biochem Biophys Res Commun 505 (1), 99-105 (2018)
   PUBMED   30236986
  REMARK    GeneRIF: Data indicate that cysteine C632 residue is important for
            the function of SH3 domain GRB2 like endophilin interacting protein
            1 (SGIP1) during cellular endocytosis.
REFERENCE   3  (residues 1 to 812)
  AUTHORS   Petko J, Tranchina T, Patel G, Levenson R and Justice-Bitner S.
  TITLE     Identifying novel members of the Wntless interactome through
            genetic and candidate gene approaches
  JOURNAL   Brain Res Bull 138, 96-105 (2018)
   PUBMED   28734904
REFERENCE   4  (residues 1 to 812)
  AUTHORS   Chwedorowicz R, Raszewski G, Kapka-Skrzypczak L, Sawicki K and
            Studzinski T.
  TITLE     Event-related potentials (ERP) and SGIP1 gene polymorphisms in
            alcoholics: relation to family history of alcoholism and drug usage
  JOURNAL   Ann Agric Environ Med 23 (4), 618-624 (2016)
   PUBMED   28030933
  REMARK    GeneRIF: The present study demonstrated a possible association of
            target P300 evoked theta and of alcohol dependence with SNPs from
            the gene SGIP1 in the region of rs10889635, but further studies are
            required.
REFERENCE   5  (residues 1 to 812)
  AUTHORS   Shimada A, Yamaguchi A and Kohda D.
  TITLE     Structural basis for the recognition of two consecutive mutually
            interacting DPF motifs by the SGIP1 mu homology domain
  JOURNAL   Sci Rep 6, 19565 (2016)
   PUBMED   26822536
  REMARK    GeneRIF: crystal structures of the SGIP1 mu homology domains in
            complex with peptides containing two DPF motifs, are reported.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 812)
  AUTHORS   Luke MM, O'Meara ES, Rowland CM, Shiffman D, Bare LA, Arellano AR,
            Longstreth WT Jr, Lumley T, Rice K, Tracy RP, Devlin JJ and Psaty
            BM.
  TITLE     Gene variants associated with ischemic stroke: the cardiovascular
            health study
  JOURNAL   Stroke 40 (2), 363-368 (2009)
   PUBMED   19023099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 812)
  AUTHORS   Shiffman D, O'Meara ES, Bare LA, Rowland CM, Louie JZ, Arellano AR,
            Lumley T, Rice K, Iakoubova O, Luke MM, Young BA, Malloy MJ, Kane
            JP, Ellis SG, Tracy RP, Devlin JJ and Psaty BM.
  TITLE     Association of gene variants with incident myocardial infarction in
            the Cardiovascular Health Study
  JOURNAL   Arterioscler Thromb Vasc Biol 28 (1), 173-179 (2008)
   PUBMED   17975119
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 812)
  AUTHORS   Uezu A, Horiuchi A, Kanda K, Kikuchi N, Umeda K, Tsujita K,
            Suetsugu S, Araki N, Yamamoto H, Takenawa T and Nakanishi H.
  TITLE     SGIP1alpha is an endocytic protein that directly interacts with
            phospholipids and Eps15
  JOURNAL   J Biol Chem 282 (36), 26481-26489 (2007)
   PUBMED   17626015
  REMARK    GeneRIF: SGIP1alpha plays an essential role in clathrin-mediated
            endocytosis by interacting with phospholipids and Eps15.
REFERENCE   9  (residues 1 to 812)
  AUTHORS   Trevaskis J, Walder K, Foletta V, Kerr-Bayles L, McMillan J, Cooper
            A, Lee S, Bolton K, Prior M, Fahey R, Whitecross K, Morton GJ,
            Schwartz MW and Collier GR.
  TITLE     Src homology 3-domain growth factor receptor-bound 2-like
            (endophilin) interacting protein 1, a novel neuronal protein that
            regulates energy balance
  JOURNAL   Endocrinology 146 (9), 3757-3764 (2005)
   PUBMED   15919751
REFERENCE   10 (residues 1 to 812)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356913.15, AL139147.7 and AL354978.20.
            On Nov 16, 2019 this sequence version replaced XP_006711029.1.
            
            Summary: SGIP1 functions as an endocytic protein that affects
            signaling by receptors in neuronal systems involved in energy
            homeostasis via its interaction with endophilins (see SH3GL3; MIM
            603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al.,
            2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2145743,
                              SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..812
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     Protein         1..812
                     /product="SH3-containing GRB2-like protein 3-interacting
                     protein 1 isoform 6"
                     /note="SH3-containing GRB2-like protein 3-interacting
                     protein 1; SH3 domain GRB2 like endophilin interacting
                     protein 1; endophilin-3-interacting protein"
                     /calculated_mol_wt=87115
     Region          545..811
                     /region_name="SGIP1_MHD"
                     /note="mu-homology domain (MHD) of Scr homology 3
                     (SH3)-domain growth factor receptor-bound 2 (GRB2)-like
                     (endophilin) interacting protein 1 (also known as
                     endophilin-3-interacting protein, SGIP1) and similar
                     proteins; cd09266"
                     /db_xref="CDD:271172"
     CDS             1..812
                     /gene="SGIP1"
                     /coded_by="NM_001376538.1:207..2645"
                     /note="isoform 6 is encoded by transcript variant 9"
                     /db_xref="GeneID:84251"
                     /db_xref="HGNC:HGNC:25412"
                     /db_xref="MIM:611540"
ORIGIN      
        1 mmeglkkrtr kafgirkkek dtdstgspdr dgiqgkkktq ktqllltscf wlralsltls
       61 qkksngapng fyaeidwery nspeldeegy sirpeepgst kgkhfyssse seeeeeshkk
      121 fnikikplqs kdilknaatv delkasigni alspspvrks prrspgaikr nlsseevarp
      181 rrstptpeli skkppddtta laplfgpple safdeqktev lldqpeiwgs gqpinpsmes
      241 pkltrpfptg tppplppknv patpprtgsp ltigpgndqs atevkieklp sindldsifg
      301 pvlspksvav naeekwvhfs dtspehvtpe ltprekvvsp patpdnpads papgplgppg
      361 ptgppgppgp prnvlsplnl eevqkkvaeq tfikddylet isspkdfglg qratpppppp
      421 ptyrtvvssp gpgsgpgpgt tsgassparp atplvpcrst tpppppprpp srpklppgkp
      481 gvgdvsrpfs ppihsssppp iaplaraest ssisstnsls aattptvgss rgpspltmga
      541 qdtlpvaaaf tetvnayfkg adpskcivki tgemvlsfpa gitrhfannp spaaltfrvi
      601 nfsrlehvlp npqllccdnt qndantkefw vnmpnlmthl kkvseqkpqa tyynvdmlky
      661 qvsaqgiqst plnlavnwrc epsstdlrid ykyntdamtt avalnnvqfl vpidggvtkl
      721 qavlppavwn aeqqrilwki pdisqkseng gvgsllarfq lsegpskpsp lvvqftsegs
      781 tlsgcdielv gagyrfslik krfaagkyla dn
//
LOCUS       NP_001372859            1213 aa            linear   PRI 28-DEC-2022
DEFINITION  pleckstrin homology domain-containing family A member 5 isoform 13
            [Homo sapiens].
ACCESSION   NP_001372859 XP_011519018
VERSION     NP_001372859.1
DBSOURCE    REFSEQ: accession NM_001385930.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1213)
  AUTHORS   Sluysmans S, Mean I, Xiao T, Boukhatemi A, Ferreira F, Jond L,
            Mutero A, Chang CJ and Citi S.
  TITLE     PLEKHA5, PLEKHA6, and PLEKHA7 bind to PDZD11 to target the Menkes
            ATPase ATP7A to the cell periphery and regulate copper homeostasis
  JOURNAL   Mol Biol Cell 32 (21), ar34 (2021)
   PUBMED   34613798
  REMARK    GeneRIF: PLEKHA5, PLEKHA6, and PLEKHA7 bind to PDZD11 to target the
            Menkes ATPase ATP7A to the cell periphery and regulate copper
            homeostasis.
REFERENCE   2  (residues 1 to 1213)
  AUTHORS   Zouboulis CC, Nogueira da Costa A, Fimmel S and Zouboulis KC.
  TITLE     Apocrine glands are bystanders in hidradenitis suppurativa and
            their involvement is gender specific
  JOURNAL   J Eur Acad Dermatol Venereol 34 (7), 1555-1563 (2020)
   PUBMED   32031713
REFERENCE   3  (residues 1 to 1213)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 1213)
  AUTHORS   Zhang H, Zhu H, Deng G, Zito CR, Oria VO, Rane CK, Zhang S, Weiss
            SA, Tran T, Adeniran A, Zhang F, Zhou J, Kluger Y, Bosenberg MW,
            Kluger HM and Jilaveanu LB.
  TITLE     PLEKHA5 regulates tumor growth in metastatic melanoma
  JOURNAL   Cancer 126 (5), 1016-1030 (2020)
   PUBMED   31769872
  REMARK    GeneRIF: PLEKHA5 regulates tumor growth in metastatic melanoma.
REFERENCE   5  (residues 1 to 1213)
  AUTHORS   Daily JW, Liu M and Park S.
  TITLE     High genetic risk scores of SLIT3, PLEKHA5 and PPP2R2C variants
            increased insulin resistance and interacted with coffee and
            caffeine consumption in middle-aged adults
  JOURNAL   Nutr Metab Cardiovasc Dis 29 (1), 79-89 (2019)
   PUBMED   30454882
  REMARK    GeneRIF: High genetic risk scores of SLIT3, PLEKHA5 and PPP2R2C
            variants increase susceptibility to increased insulin resistance by
            50% and its risk may be exacerbated by consuming more than 10 cups
            coffee/week or 220 mg caffeine/day.
REFERENCE   6  (residues 1 to 1213)
  AUTHORS   Zhang Y, Wolf-Yadlin A, Ross PL, Pappin DJ, Rush J, Lauffenburger
            DA and White FM.
  TITLE     Time-resolved mass spectrometry of tyrosine phosphorylation sites
            in the epidermal growth factor receptor signaling network reveals
            dynamic modules
  JOURNAL   Mol Cell Proteomics 4 (9), 1240-1250 (2005)
   PUBMED   15951569
REFERENCE   7  (residues 1 to 1213)
  AUTHORS   Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S,
            Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett
            JR, Langeberg LK, Scott JD and Pawson T.
  TITLE     Proteomic, functional, and domain-based analysis of in vivo 14-3-3
            binding proteins involved in cytoskeletal regulation and cellular
            organization
  JOURNAL   Curr Biol 14 (16), 1436-1450 (2004)
   PUBMED   15324660
REFERENCE   8  (residues 1 to 1213)
  AUTHORS   Lehner B and Sanderson CM.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   9  (residues 1 to 1213)
  AUTHORS   Grottke C, Mantwill K, Dietel M, Schadendorf D and Lage H.
  TITLE     Identification of differentially expressed genes in human melanoma
            cells with acquired resistance to various antineoplastic drugs
  JOURNAL   Int J Cancer 88 (4), 535-546 (2000)
   PUBMED   11058868
REFERENCE   10 (residues 1 to 1213)
  AUTHORS   Dowler S, Currie RA, Campbell DG, Deak M, Kular G, Downes CP and
            Alessi DR.
  TITLE     Identification of pleckstrin-homology-domain-containing proteins
            with novel phosphoinositide-binding specificities
  JOURNAL   Biochem J 351 (Pt 1), 19-31 (2000)
   PUBMED   11001876
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092828.16, AC024902.54, AC087314.7 and AC091805.16.
            On Jul 31, 2020 this sequence version replaced XP_011519018.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.89746.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1213
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.3"
     Protein         1..1213
                     /product="pleckstrin homology domain-containing family A
                     member 5 isoform 13"
                     /note="phosphoinositol 3-phosphate-binding protein-2; PH
                     domain-containing family A member 5; pleckstrin homology
                     domain containing, family A member 5"
                     /calculated_mol_wt=138858
     Region          12..41
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Region          58..87
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Site            order(73,84)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          164..267
                     /region_name="PH_PEPP1_2_3"
                     /note="Phosphoinositol 3-phosphate binding proteins 1, 2,
                     and 3 pleckstrin homology (PH) domain; cd13248"
                     /db_xref="CDD:270068"
     Site            order(178,180..181,188,190,201,244)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:270068"
     Region          <610..>875
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1213
                     /gene="PLEKHA5"
                     /gene_synonym="PEPP-2; PEPP2"
                     /coded_by="NM_001385930.1:68..3709"
                     /note="isoform 13 is encoded by transcript variant 13"
                     /db_xref="GeneID:54477"
                     /db_xref="HGNC:HGNC:30036"
                     /db_xref="MIM:607770"
ORIGIN      
        1 maadlnlewi slprswtygi trggrvffin eeaksttwlh pvtgeavvtg hrrqstdlpt
       61 gweeaytfeg aryyinhner kvtckhpvtg qpsqdncifv vneqtvatmt seekkerpis
      121 mineasnynv tsdyavhpms pvgrtsrask kvhnfgkrsn sikrnpnapv vrrgwlykqd
      181 stgmklwkkr wfvlsdlclf yyrdekeegi lgsillpsfq ialltsedhi nrkyafkaah
      241 pnmrtyyfct dtgkemelwm kamldaalvq tepvkrvdki tsenaptket nnipnhrvli
      301 kpeiqnnqkn kemskieekk aleaekygfq kdgqdrpltk insvklnslp seyesgsacp
      361 aqtvhyrpin lsssenkivn vsladlrggn rpntgplyte adrviqrtns mqqleqwiki
      421 qkgrgheeet rgvisyqtlp rnmpshraqi marypegyrt lprnsktrpe sicsvtpsth
      481 dktlgpgaee krrsmrddtm wqlyewqqrq fynkqstlpr hstlsspktm vnisdqtmhs
      541 iptspshgsi aayqgyspqr tyrsevsspi qrgdvtidrr hrahhpkhvy vpdrrsvpag
      601 ltlqsvspqs lqgktpeelt llliklrrqq aelssireht laqlmqlkle ahspkneils
      661 hhlqrntiyl dhqmkenepi itmvhtmien salrpqlyqq flrqkskisl yclsqdegrg
      721 tlykyrpeev didaklsrlc eqdkvvhale eklqqlhkek ytleqallsa sqeiemhadn
      781 paaiqtvvlq rddlqnglls tcrelsrata elerawreyd kleydvtvtr nqmqeqldhl
      841 gevqtesagi qraqiqkelw riqdvmegls khkqqrgtte igmigskpfs tvkyknegpd
      901 yrlyksepel ttvaevdesn geeksepvse ietsvvkgsh fpvgvvppra ksptpessti
      961 asyvtlrktk kmmdlrterp rsaveqlcla estrprmtve eqmerirrhq qaclrekkkg
     1021 lnvigasdqs plqspsnlrd npfrttqtrr rddkeldtai rendvkpdhe tpateivqlk
     1081 etepqnvdfs kelkktenis yemlfepepn gvnsvemmdk ernkdkmped vtfspqdetq
     1141 tanhkpeehp eentknsvde qeetvisyes tpevsrgnqt mavkslspsp essaspvpst
     1201 qpqltegshf mcv
//
LOCUS       NP_001306922             498 aa            linear   PRI 28-DEC-2022
DEFINITION  PCNA-interacting partner isoform 3 [Homo sapiens].
ACCESSION   NP_001306922
VERSION     NP_001306922.1
DBSOURCE    REFSEQ: accession NM_001319993.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 498)
  AUTHORS   Chen S, Li QH, Chen X, Bao HJ, Wu W, Shen F, Lu BF, Jiang RQ, Zong
            ZH and Zhao Y.
  TITLE     SNORA70E promotes the occurrence and development of ovarian cancer
            through pseudouridylation modification of RAP1B and alternative
            splicing of PARPBP
  JOURNAL   J Cell Mol Med 26 (20), 5150-5164 (2022)
   PUBMED   36056690
  REMARK    GeneRIF: SNORA70E promotes the occurrence and development of
            ovarian cancer through pseudouridylation modification of RAP1B and
            alternative splicing of PARPBP.
REFERENCE   2  (residues 1 to 498)
  AUTHORS   Yu B, Ding Y, Liao X, Wang C, Wang B and Chen X.
  TITLE     Overexpression of PARPBP Correlates with Tumor Progression and Poor
            Prognosis in Hepatocellular Carcinoma
  JOURNAL   Dig Dis Sci 64 (10), 2878-2892 (2019)
   PUBMED   30949905
  REMARK    GeneRIF: PARP1-binding protein was significantly upregulated in
            Hepatocellular Carcinoma tissues compared with normal liver. High
            PARPBP expression was associated with elevated serum AFP level,
            vascular invasion, poor tumor differentiation, and advanced TNM
            stage.
REFERENCE   3  (residues 1 to 498)
  AUTHORS   Xu D, Tao Z, Tang X and He JK.
  TITLE     Poly (ADP-ribose) polymerase-1 Binding Protein Facilitates Lung
            Adenocarcinoma Cell Proliferation and Correlates with Poor
            Prognosis
  JOURNAL   Ann Clin Lab Sci 49 (5), 574-580 (2019)
   PUBMED   31611199
  REMARK    GeneRIF: PARPBP expression is enhanced in lung adenocarcinoma
            tissues and is a potential factor in the progression of lung
            adenocarcinoma.
REFERENCE   4  (residues 1 to 498)
  AUTHORS   Nicolae CM, O'Connor MJ, Schleicher EM, Song C, Gowda R, Robertson
            G, Dovat S and Moldovan GL.
  TITLE     PARI (PARPBP) suppresses replication stress-induced myeloid
            differentiation in leukemia cells
  JOURNAL   Oncogene 38 (27), 5530-5540 (2019)
   PUBMED   30967629
  REMARK    GeneRIF: show that PARI expression negatively correlates with
            expression of differentiation markers in clinical myeloid leukemia
            samples, suggesting that targeting PARI may restore differentiation
            ability of leukemia cells and antagonize their proliferation
REFERENCE   5  (residues 1 to 498)
  AUTHORS   Zhang Y, Ye X, Chen L, Wu Q, Gao Y and Li Y.
  TITLE     PARI functions as a new transcriptional target of FOXM1 involved in
            gastric cancer development
  JOURNAL   Int J Biol Sci 14 (5), 531-541 (2018)
   PUBMED   29805304
  REMARK    GeneRIF: PARI plays potential oncogenic roles and functions as a
            transcriptional target and effector of FOXM1 in gastric cancer
            development
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 498)
  AUTHORS   Burkovics P, Dome L, Juhasz S, Altmannova V, Sebesta M, Pacesa M,
            Fugger K, Sorensen CS, Lee MY, Haracska L and Krejci L.
  TITLE     The PCNA-associated protein PARI negatively regulates homologous
            recombination via the inhibition of DNA repair synthesis
  JOURNAL   Nucleic Acids Res 44 (7), 3176-3189 (2016)
   PUBMED   26792895
  REMARK    GeneRIF: PARI inhibits homologous recombination in vivo, and its
            knockdown suppresses the UV sensitivity of RAD18-depleted cells
REFERENCE   7  (residues 1 to 498)
  AUTHORS   O'Connor KW, Dejsuphong D, Park E, Nicolae CM, Kimmelman AC,
            D'Andrea AD and Moldovan GL.
  TITLE     PARI overexpression promotes genomic instability and pancreatic
            tumorigenesis
  JOURNAL   Cancer Res 73 (8), 2529-2539 (2013)
   PUBMED   23436799
  REMARK    GeneRIF: PARI overexpression promotes genomic instability and
            pancreatic tumorigenesis.
REFERENCE   8  (residues 1 to 498)
  AUTHORS   Varisli L.
  TITLE     Meta-analysis of the cell cycle related C12orf48
  JOURNAL   Biocell 37 (1), 11-16 (2013)
   PUBMED   24396997
REFERENCE   9  (residues 1 to 498)
  AUTHORS   Moldovan GL, Dejsuphong D, Petalcorin MI, Hofmann K, Takeda S,
            Boulton SJ and D'Andrea AD.
  TITLE     Inhibition of homologous recombination by the PCNA-interacting
            protein PARI
  JOURNAL   Mol Cell 45 (1), 75-86 (2012)
   PUBMED   22153967
  REMARK    GeneRIF: PARI suppresses inappropriate recombination events at
            mammalian replication forks.
REFERENCE   10 (residues 1 to 498)
  AUTHORS   Piao L, Nakagawa H, Ueda K, Chung S, Kashiwaya K, Eguchi H,
            Ohigashi H, Ishikawa O, Daigo Y, Matsuda K and Nakamura Y.
  TITLE     C12orf48, termed PARP-1 binding protein, enhances poly(ADP-ribose)
            polymerase-1 (PARP-1) activity and protects pancreatic cancer cells
            from DNA damage
  JOURNAL   Genes Chromosomes Cancer 50 (1), 13-24 (2011)
   PUBMED   20931645
  REMARK    GeneRIF: Demonstrated that C12orf48 protein could directly interact
            with Poly(ADP-ribose) Polymerase-1 (PARP-1). Knockdown of C12orf48
            by siRNA in PDAC cells significantly suppressed their growth.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC079907.25 and AC087882.17.
            
            Transcript Variant: This variant (3) contains an alternate exon and
            lacks an exon in the 5' region, and initiates translation at
            downstream start codon, compared to variant 1. The encoded isoform
            (3) has a shorter N-terminus and is shorter than isoform 1.
            Variants 3 and 4 encode the same isoform (3).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC030962.1, SRR11853567.7741.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267756 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..498
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.2"
     Protein         1..498
                     /product="PCNA-interacting partner isoform 3"
                     /note="PCNA-interacting partner"
                     /calculated_mol_wt=55653
     CDS             1..498
                     /gene="PARPBP"
                     /gene_synonym="AROM; C12orf48; PARI"
                     /coded_by="NM_001319993.2:459..1955"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS81730.1"
                     /db_xref="GeneID:55010"
                     /db_xref="HGNC:HGNC:26074"
                     /db_xref="MIM:613687"
ORIGIN      
        1 mdvtdhyedv rkiyddflkn snmldlidvy qkcraltsnc enyntvspsq lldflsgkqy
       61 avgdetdlsi ptsptskynr dnekvqllar kiifsylnll vnskndlava yilnipdrgl
      121 greaftdlkh aarekqmsif lvatsfirti elggkgyapp psdplrthvk glsnfinfid
      181 kldeilgeip npsiaggqil svikmqlikg qnsrdpfcka ieevaqdldl rikniinsqe
      241 gvvalsttdi sparpkshai nhgtaycgrd tvkallvlld eeaanaptkn kaellydeen
      301 tihhhgtsil tlfrsptqvn nsikplreri cvsmqekkik mkqtlirsqf actykddymi
      361 skdnwnnvnl askplcvlym endlsegvnp svgrstigts fgnvhldrsk nekvsrksts
      421 qtgnksskrk qvdldgenil cdnrneppqh knakipkksn dsqnrlygkl akvaksnkct
      481 akdklisgqa kltqffrl
//
LOCUS       NP_001371307             889 aa            linear   PRI 28-DEC-2022
DEFINITION  F-BAR domain only protein 1 isoform b [Homo sapiens].
ACCESSION   NP_001371307 XP_016882008
VERSION     NP_001371307.1
DBSOURCE    REFSEQ: accession NM_001384378.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 889)
  AUTHORS   Park S, Lee AY, Cho KC, Jung JH, Hong SH, Kim S, Kim KP, Park J and
            Cho MH.
  TITLE     FCH domain only 1 (FCHo1), a potential new biomarker for lung
            cancer
  JOURNAL   Cancer Gene Ther 29 (7), 901-907 (2022)
   PUBMED   34413495
  REMARK    GeneRIF: FCH domain only 1 (FCHo1), a potential new biomarker for
            lung cancer.
REFERENCE   2  (residues 1 to 889)
  AUTHORS   Aydemir S, Islek A, Nepesov S, Yaman Y, Baysoy G, Beser OF,
            Cokugras FC, Baris S, Karakoc-Aydiner E, Cokugras H, Hubrack SZ,
            Kendir Demirkol Y, Lo B, Kiykim A and Ozen A.
  TITLE     Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1
            Deficiency
  JOURNAL   J Clin Immunol 41 (6), 1406-1410 (2021)
   PUBMED   33950325
  REMARK    GeneRIF: Inflammatory Bowel Disease and Guillain Barre Syndrome in
            FCHO1 Deficiency.
REFERENCE   3  (residues 1 to 889)
  AUTHORS   Day KJ, Kago G, Wang L, Richter JB, Hayden CC, Lafer EM and
            Stachowiak JC.
  TITLE     Liquid-like protein interactions catalyse assembly of endocytic
            vesicles
  JOURNAL   Nat Cell Biol 23 (4), 366-376 (2021)
   PUBMED   33820972
  REMARK    GeneRIF: Liquid-like protein interactions catalyse assembly of
            endocytic vesicles.
REFERENCE   4  (residues 1 to 889)
  AUTHORS   Lyszkiewicz M, Zietara N, Frey L, Pannicke U, Stern M, Liu Y, Fan
            Y, Puchalka J, Hollizeck S, Somekh I, Rohlfs M, Yilmaz T, Unal E,
            Karakukcu M, Patiroglu T, Kellerer C, Karasu E, Sykora KW, Lev A,
            Simon A, Somech R, Roesler J, Hoenig M, Keppler OT, Schwarz K and
            Klein C.
  TITLE     Human FCHO1 deficiency reveals role for clathrin-mediated
            endocytosis in development and function of T cells
  JOURNAL   Nat Commun 11 (1), 1031 (2020)
   PUBMED   32098969
  REMARK    GeneRIF: A critical role of FCHO1 in the clathrin-mediated
            endocytosis and T cells development and function.
            Erratum:[Nat Commun. 2020 Apr 20;11(1):1963. PMID: 32312977]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 889)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 889)
  AUTHORS   Umasankar PK, Ma L, Thieman JR, Jha A, Doray B, Watkins SC and
            Traub LM.
  TITLE     A clathrin coat assembly role for the muniscin protein central
            linker revealed by TALEN-mediated gene editing
  JOURNAL   Elife 3, e04137 (2014)
   PUBMED   25303365
  REMARK    GeneRIF: The central linker of FCHO proteins acts as an allosteric
            regulator of the prime endocytic adaptor, AP-2.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 889)
  AUTHORS   Umasankar PK, Sanker S, Thieman JR, Chakraborty S, Wendland B,
            Tsang M and Traub LM.
  TITLE     Distinct and separable activities of the endocytic clathrin-coat
            components Fcho1/2 and AP-2 in developmental patterning
  JOURNAL   Nat Cell Biol 14 (5), 488-501 (2012)
   PUBMED   22484487
  REMARK    GeneRIF: show that the mu-homology domain of FCHO1/2 represents an
            endocytic interaction hub
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 889)
  AUTHORS   Henne WM, Boucrot E, Meinecke M, Evergren E, Vallis Y, Mittal R and
            McMahon HT.
  TITLE     FCHo proteins are nucleators of clathrin-mediated endocytosis
  JOURNAL   Science 328 (5983), 1281-1284 (2010)
   PUBMED   20448150
  REMARK    GeneRIF: study reports FCHo1/2 were required for plasma membrane
            clathrin-coated vesicle (CCV) budding & marked sites of CCV
            formation
REFERENCE   9  (residues 1 to 889)
  AUTHORS   Reider A, Barker SL, Mishra SK, Im YJ, Maldonado-Baez L, Hurley JH,
            Traub LM and Wendland B.
  TITLE     Syp1 is a conserved endocytic adaptor that contains domains
            involved in cargo selection and membrane tubulation
  JOURNAL   EMBO J 28 (20), 3103-3116 (2009)
   PUBMED   19713939
REFERENCE   10 (residues 1 to 889)
  AUTHORS   Sakaushi S, Inoue K, Zushi H, Senda-Murata K, Fukada T, Oka S and
            Sugimoto K.
  TITLE     Dynamic behavior of FCHO1 revealed by live-cell imaging microscopy:
            its possible involvement in clathrin-coated vesicle formation
  JOURNAL   Biosci Biotechnol Biochem 71 (7), 1764-1768 (2007)
   PUBMED   17617719
  REMARK    GeneRIF: Involved in clathrin-coated vesicle formation.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008761.8.
            On Jun 17, 2020 this sequence version replaced XP_016882008.1.
            
            Transcript Variant: This variant (13) differs in the 5' UTR
            compared to variant 2. Variants 2, 3, and 5-16 all encode the same
            isoform (b).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AK303623.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1965299, SAMEA2144335 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..889
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     Protein         1..889
                     /product="F-BAR domain only protein 1 isoform b"
                     /note="FCH domain only protein 1; F-BAR domain only
                     protein 1; FCH domain only 1"
                     /calculated_mol_wt=96730
     Region          1..275
                     /region_name="Mediates membrane-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (O14526.2)"
     Region          10..270
                     /region_name="F-BAR_FCHO1"
                     /note="The F-BAR (FES-CIP4 Homology and
                     Bin/Amphiphysin/Rvs) domain of FCH domain Only 1 protein;
                     cd07674"
                     /db_xref="CDD:153358"
     Site            order(10,13..15,18..19,22,25,28..29,32..33,35..36,39..40,
                     43..44,47,50..51,54,57,61..62,65..67,71,74,78,81,134,138,
                     141..142,145,172,175..176,179,182,186,189..190,194,201,
                     204..205,208..209,211..212,215,219,222..223,226,229..230,
                     233..234,236..237,240,243..245,248..250,252..254,256..264,
                     266..270)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153358"
     Site            order(21,24,31,38,49,53,56,111,114,136,144,150,167,170)
                     /site_type="other"
                     /note="putative membrane interaction site"
                     /db_xref="CDD:153358"
     Region          <253..562
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          267..442
                     /region_name="Mediates interaction with the adaptor
                     protein complex AP-2"
                     /note="propagated from UniProtKB/Swiss-Prot (O14526.2)"
     Region          294..352
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14526.2)"
     Site            295
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14526.2)"
     Site            347
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14526.2)"
     Site            372
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14526.2)"
     Region          382..596
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14526.2)"
     Site            530
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K285; propagated from
                     UniProtKB/Swiss-Prot (O14526.2)"
     Region          609..889
                     /region_name="Mediates interaction with AGFG1, CALM, DAB2,
                     EPS15, EPS15R, ITSN1 and clathrin.
                     /evidence=ECO:0000269|PubMed:22484487"
                     /note="propagated from UniProtKB/Swiss-Prot (O14526.2)"
     Site            616
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (O14526.2)"
     Region          627..888
                     /region_name="AP_MHD_Cterm"
                     /note="C-terminal domain of adaptor protein (AP) complexes
                     medium mu subunits and its homologs (MHD); cl10970"
                     /db_xref="CDD:416027"
     Region          826..849
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14526.2)"
     CDS             1..889
                     /gene="FCHO1"
                     /gene_synonym="IMD76"
                     /coded_by="NM_001384378.1:361..3030"
                     /note="isoform b is encoded by transcript variant 13"
                     /db_xref="CCDS:CCDS32955.1"
                     /db_xref="GeneID:23149"
                     /db_xref="HGNC:HGNC:29002"
                     /db_xref="MIM:613437"
ORIGIN      
        1 msyfgehfwg eknhgfevly hsvkqgpist keladfirer atieetyska maklsklasn
       61 gtpmgtfapl wevfrvssdk lalchleltr klqdlikdvl rygeeqlkth kkckeevvst
      121 ldavqvlsgv sqllpksren ylnrcmdqer lrrestsqke mdkaetktkk aaeslrrsve
      181 kynsaradfe qkmldsalrf qameethlrh mkallgsyah svedthvqig qvheefkqni
      241 envsvemllr kfaeskgtgr ekpgpldfea ysaaalqeam krlrgakafr lpglsrrere
      301 peppaavdfl epdsgtcpev deegftvrpd vtqnstaeps rfsssdsdfd deeprkfyvh
      361 ikpaparapa cspeaaaaql ratagslilp pgpggtmkrh ssrdaagkpq rprsaprtss
      421 caerlqseeq vsknlfgppl esafdhedft gssslgftss pspfsssspe nvedsgldsp
      481 shaapgpspd swvprpgtpq sppscrappp eargirappl pdspqplass pgpwgleala
      541 ggdlmpapad ptareglaap prrlrsrkvs cpltrsngdl srslspsplg ssaastaler
      601 psflsqtghg vsrgpspvvl gsqdalpiat afteyvhayf rghspsclar vtgeltmtfp
      661 agivrvfsgt ppppvlsfrl vhttaiehfq pnadllfsdp sqsdpetkdf wlnmaaltea
      721 lqrqaeqnpt asyynvvllr yqfsrpgpqs vplqlsahwq cgatltqvsv eygyrpgata
      781 vptpltnvqi llpvgepvtn vrlqpaatwn leekrltwrl pdvseaggsg rlsaswepls
      841 gpstpspvaa qftsegttls gvdlelvgsg yrmslvkrrf atgmylvsc
//
LOCUS       NP_001335500             261 aa            linear   PRI 29-DEC-2022
DEFINITION  probable palmitoyltransferase ZDHHC24 isoform 2 [Homo sapiens].
ACCESSION   NP_001335500
VERSION     NP_001335500.1
DBSOURCE    REFSEQ: accession NM_001348571.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 261)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK310561.1 and AP002748.4.
            
            Transcript Variant: This variant (2) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (2)
            has a shorter and distinct C-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK310561.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1968968 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..261
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     Protein         1..261
                     /product="probable palmitoyltransferase ZDHHC24 isoform 2"
                     /EC_number="2.3.1.225"
                     /note="zinc finger, DHHC domain containing 24; probable
                     palmitoyltransferase ZDHHC24; DHHC-24; zinc finger DHHC
                     domain-containing protein 24"
                     /calculated_mol_wt=27756
     Site            19..39
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UX98.1)"
     Site            53..73
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UX98.1)"
     Region          <95..>169
                     /region_name="DHHC"
                     /note="DHHC palmitoyltransferase; cl19890"
                     /db_xref="CDD:418707"
     Site            138..158
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UX98.1)"
     Site            167..187
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UX98.1)"
     CDS             1..261
                     /gene="ZDHHC24"
                     /coded_by="NM_001348571.2:46..831"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS86218.1"
                     /db_xref="GeneID:254359"
                     /db_xref="HGNC:HGNC:27387"
ORIGIN      
        1 mgqpwaagst dgapaqlplv ltalwaaavg lelayvlvlg pgppplgpla ralqlalaaf
       61 qllnllgnvg lflrsdpsir gvmlagrglg qgwaycyqcq sqvpprsghc sacrvcilrr
      121 dhhcrllgrc vgfgnyrpfl clllhaagvl lhvsvllgpa lsallrahtp lhmaallllp
      181 wlmlltdnpc pataltttkr spwcprsilc mclqqlsehp rlppahlhre vpstpqaqcc
      241 gnqphapssl rnsdlqatct s
//
LOCUS       NP_001371068             439 aa            linear   PRI 29-DEC-2022
DEFINITION  docking protein 3 isoform 4 [Homo sapiens].
ACCESSION   NP_001371068
VERSION     NP_001371068.1
DBSOURCE    REFSEQ: accession NM_001384139.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 439)
  AUTHORS   Li CX, Su Y, Gong ZC and Liu H.
  TITLE     Porphyromonas gingivalis Activation of Tumor-Associated Macrophages
            via DOK3 Promotes Recurrence of Oral Squamous Cell Carcinoma
  JOURNAL   Med Sci Monit 28, e937126 (2022)
   PUBMED   36210538
  REMARK    GeneRIF: Porphyromonas gingivalis Activation of Tumor-Associated
            Macrophages via DOK3 Promotes Recurrence of Oral Squamous Cell
            Carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 439)
  AUTHORS   Loh JT, Teo JKH and Lam KP.
  TITLE     Dok3 restrains neutrophil production of calprotectin during TLR4
            sensing of SARS-CoV-2 spike protein
  JOURNAL   Front Immunol 13, 996637 (2022)
   PUBMED   36172386
  REMARK    GeneRIF: Dok3 restrains neutrophil production of calprotectin
            during TLR4 sensing of SARS-CoV-2 spike protein.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 439)
  AUTHORS   Liu X, Chen F and Li W.
  TITLE     Elevated expression of DOK3 indicates high suppressive immune cell
            infiltration and unfavorable prognosis of gliomas
  JOURNAL   Int Immunopharmacol 83, 106400 (2020)
   PUBMED   32193105
  REMARK    GeneRIF: Elevated expression of DOK3 indicates high suppressive
            immune cell infiltration and unfavorable prognosis of gliomas.
REFERENCE   4  (residues 1 to 439)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 439)
  AUTHORS   Honma M, Higuchi O, Shirakata M, Yasuda T, Shibuya H, Iemura S,
            Natsume T and Yamanashi Y.
  TITLE     Dok-3 sequesters Grb2 and inhibits the Ras-Erk pathway downstream
            of protein-tyrosine kinases
  JOURNAL   Genes Cells 11 (2), 143-151 (2006)
   PUBMED   16436051
  REMARK    GeneRIF: findings indicate that Dok-3 sequesters Grb2 from Shc and
            inhibits the Ras-Erk pathway downstream of PTKs
REFERENCE   6  (residues 1 to 439)
  AUTHORS   Robson JD, Davidson D and Veillette A.
  TITLE     Inhibition of the Jun N-terminal protein kinase pathway by SHIP-1,
            a lipid phosphatase that interacts with the adaptor molecule Dok-3
  JOURNAL   Mol Cell Biol 24 (6), 2332-2343 (2004)
   PUBMED   14993273
REFERENCE   7  (residues 1 to 439)
  AUTHORS   Favre C, Gerard A, Clauzier E, Pontarotti P, Olive D and Nunes JA.
  TITLE     DOK4 and DOK5: new Dok-related genes expressed in human T cells
  JOURNAL   Genes Immun 4 (1), 40-45 (2003)
   PUBMED   12595900
REFERENCE   8  (residues 1 to 439)
  AUTHORS   Grimm J, Sachs M, Britsch S, Di Cesare S, Schwarz-Romond T, Alitalo
            K and Birchmeier W.
  TITLE     Novel p62dok family members, dok-4 and dok-5, are substrates of the
            c-Ret receptor tyrosine kinase and mediate neuronal differentiation
  JOURNAL   J Cell Biol 154 (2), 345-354 (2001)
   PUBMED   11470823
REFERENCE   9  (residues 1 to 439)
  AUTHORS   Lemay S, Davidson D, Latour S and Veillette A.
  TITLE     Dok-3, a novel adapter molecule involved in the negative regulation
            of immunoreceptor signaling
  JOURNAL   Mol Cell Biol 20 (8), 2743-2754 (2000)
   PUBMED   10733577
REFERENCE   10 (residues 1 to 439)
  AUTHORS   Cong F, Yuan B and Goff SP.
  TITLE     Characterization of a novel member of the DOK family that binds and
            modulates Abl signaling
  JOURNAL   Mol Cell Biol 19 (12), 8314-8325 (1999)
   PUBMED   10567556
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC145098.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3022382.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2162823
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..439
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     Protein         1..439
                     /product="docking protein 3 isoform 4"
                     /note="Dok-like protein; downstream of tyrosine kinase 3"
                     /calculated_mol_wt=47343
     Region          9..122
                     /region_name="PH_DOK1,2,3"
                     /note="Pleckstrin homology (PH) domain of Downstream of
                     tyrosine kinase 1, 2, and 3; cd14676"
                     /db_xref="CDD:270195"
     Region          156..254
                     /region_name="PTB_DOK1_DOK2_DOK3"
                     /note="Downstream of tyrosine kinase 1, 2, and 3 proteins
                     phosphotyrosine-binding domain (PTBi); cd01203"
                     /db_xref="CDD:269914"
     Site            order(166,172)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269914"
     Site            order(204..212,218,222..223,243,250,253)
                     /site_type="other"
                     /note="phosphopeptide binding site [polypeptide binding]"
                     /db_xref="CDD:269914"
     CDS             1..439
                     /gene="DOK3"
                     /gene_synonym="DOKL"
                     /coded_by="NM_001384139.1:260..1579"
                     /note="isoform 4 is encoded by transcript variant 14"
                     /db_xref="GeneID:79930"
                     /db_xref="HGNC:HGNC:24583"
                     /db_xref="MIM:611435"
ORIGIN      
        1 mdpletpikd gilyqqhvkf gkcwrkvwal lyaggpsgva rleswevrdg glgaagdrsa
       61 gpgrrgerrv irladcvsvl padgescprd tgafllttte rshllaaqhr qawmgpicql
      121 afpgtgeass gstdaqspkr glvpmeensi ysswqevgef pvvvqrteaa trcqlkgpal
      181 lvlgpdaiql reakgtqaly swpyhflrkf gsdkgvfsfe agrrchsgeg lfafstpcap
      241 dlcravagai arqrerlpel trpqpcplpr atslpsldtp gelremppgp epptsrkmhl
      301 aepgpqslpl llgpepndla sglyasvckr asgppgnehl yenlcvleas ptlhggepep
      361 hegpgsrspt tspiyhngqd lswpgpands tleaqyrrll eldqvegtgr pdpqagfkak
      421 lvtllsrerr kgpapcdrp
//
LOCUS       NP_001369547             134 aa            linear   PRI 30-DEC-2022
DEFINITION  phorbol-12-myristate-13-acetate-induced protein 1 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001369547
VERSION     NP_001369547.1
DBSOURCE    REFSEQ: accession NM_001382618.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 134)
  AUTHORS   Karbon G, Haschka MD, Hackl H, Soratroi C, Rocamora-Reverte L,
            Parson W, Fiegl H and Villunger A.
  TITLE     The BH3-only protein NOXA serves as an independent predictor of
            breast cancer patient survival and defines susceptibility to
            microtubule targeting agents
  JOURNAL   Cell Death Dis 12 (12), 1151 (2021)
   PUBMED   34903710
  REMARK    GeneRIF: The BH3-only protein NOXA serves as an independent
            predictor of breast cancer patient survival and defines
            susceptibility to microtubule targeting agents.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 134)
  AUTHORS   Xu S, Ma Y, Tong Q, Yang J, Liu J, Wang Y, Li G, Zeng J, Fang S, Li
            F, Xie X and Zhang J.
  TITLE     Cullin-5 neddylation-mediated NOXA degradation is enhanced by PRDX1
            oligomers in colorectal cancer
  JOURNAL   Cell Death Dis 12 (3), 265 (2021)
   PUBMED   33712558
  REMARK    GeneRIF: Cullin-5 neddylation-mediated NOXA degradation is enhanced
            by PRDX1 oligomers in colorectal cancer.
            Erratum:[Cell Death Dis. 2021 Apr 6;12(4):369. PMID: 33824295]
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 134)
  AUTHORS   Ochiiwa H, Ailiken G, Yokoyama M, Yamagata K, Nagano H, Yoshimura
            C, Muraoka H, Ishida K, Haruma T, Nakayama A, Hashimoto N, Murata
            K, Nishimura M, Kawashima Y, Ohara O, Ohkubo S and Tanaka T.
  TITLE     TAS4464, a NEDD8-activating enzyme inhibitor, activates both
            intrinsic and extrinsic apoptotic pathways via c-Myc-mediated
            regulation in acute myeloid leukemia
  JOURNAL   Oncogene 40 (7), 1217-1230 (2021)
   PUBMED   33420360
  REMARK    GeneRIF: TAS4464, a NEDD8-activating enzyme inhibitor, activates
            both intrinsic and extrinsic apoptotic pathways via c-Myc-mediated
            regulation in acute myeloid leukemia.
REFERENCE   4  (residues 1 to 134)
  AUTHORS   Voss AK and Strasser A.
  TITLE     The essentials of developmental apoptosis
  JOURNAL   F1000Res 9 (2020)
   PUBMED   32148779
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 134)
  AUTHORS   Morsi RZ, Hage-Sleiman R, Kobeissy H and Dbaibo G.
  TITLE     Noxa: Role in Cancer Pathogenesis and Treatment
  JOURNAL   Curr Cancer Drug Targets 18 (10), 914-928 (2018)
   PUBMED   29521234
  REMARK    Review article
REFERENCE   6  (residues 1 to 134)
  AUTHORS   Guikema JE, Amiot M and Eldering E.
  TITLE     Exploiting the pro-apoptotic function of NOXA as a therapeutic
            modality in cancer
  JOURNAL   Expert Opin Ther Targets 21 (8), 767-779 (2017)
   PUBMED   28670929
  REMARK    Review article
REFERENCE   7  (residues 1 to 134)
  AUTHORS   Czabotar PE, Lessene G, Strasser A and Adams JM.
  TITLE     Control of apoptosis by the BCL-2 protein family: implications for
            physiology and therapy
  JOURNAL   Nat Rev Mol Cell Biol 15 (1), 49-63 (2014)
   PUBMED   24355989
  REMARK    Review article
REFERENCE   8  (residues 1 to 134)
  AUTHORS   Wang Z and Sun Y.
  TITLE     Identification and characterization of two splicing variants of
            human Noxa
  JOURNAL   Anticancer Res 28 (3A), 1667-1674 (2008)
   PUBMED   18630524
  REMARK    GeneRIF: Two splicing variants of the human Noxa geneare
            identified, which consists of three exons and two introns.
            Alternative splicing of exon 2 yields three transcripts.
            Transcript-1 joins exons 1 and 3 to encode Noxa of 54 amino acids.
REFERENCE   9  (residues 1 to 134)
  AUTHORS   Oda E, Ohki R, Murasawa H, Nemoto J, Shibue T, Yamashita T, Tokino
            T, Taniguchi T and Tanaka N.
  TITLE     Noxa, a BH3-only member of the Bcl-2 family and candidate mediator
            of p53-induced apoptosis
  JOURNAL   Science 288 (5468), 1053-1058 (2000)
   PUBMED   10807576
REFERENCE   10 (residues 1 to 134)
  AUTHORS   Hijikata M, Kato N, Sato T, Kagami Y and Shimotohno K.
  TITLE     Molecular cloning and characterization of a cDNA for a novel
            phorbol-12-myristate-13-acetate-responsive gene that is highly
            expressed in an adult T-cell leukemia cell line
  JOURNAL   J Virol 64 (10), 4632-4639 (1990)
   PUBMED   2398525
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC107990.5.
            
            Summary: This gene belongs to a pro-apoptotic subfamily within the
            BCL-2 protein family, referred to as the BCL-2 homology domain 3
            (BH3)-only subfamily, which determine whether a cell commits to
            apoptosis. In response to death-inducing stimuli, BH3-only members
            inhibit the anti-apoptotic BCL-2 family members, which under
            steady-state conditions keep the multi-BH domain proteins BAX and
            BAK, in an inactive state. [provided by RefSeq, Aug 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA2142853, SAMEA2153932
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..134
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.32"
     Protein         1..134
                     /product="phorbol-12-myristate-13-acetate-induced protein
                     1 isoform 2"
                     /note="adult T cell leukemia-derived PMA-responsive;
                     protein Noxa; PMA-induced protein 1;
                     immediate-early-response protein APR"
                     /calculated_mol_wt=14597
     Region          1..>21
                     /region_name="PMAIP1"
                     /note="Phorbol-12-myristate-13-acetate-induced; pfam15150"
                     /db_xref="CDD:434502"
     CDS             1..134
                     /gene="PMAIP1"
                     /gene_synonym="APR; NOXA"
                     /coded_by="NM_001382618.1:183..587"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:5366"
                     /db_xref="HGNC:HGNC:9108"
                     /db_xref="MIM:604959"
ORIGIN      
        1 mpgkkarkna qpsparapag pagtagtard qagfaigmql rftrgkklls sslsssplal
       61 prgheeqvag srvcystqei wrqtelpaet sesdiqtlll rnltasktcm rgllqksflr
      121 rctfhqfeer lhcn
//
LOCUS       NP_001336061             331 aa            linear   PRI 30-DEC-2022
DEFINITION  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
            [Homo sapiens].
ACCESSION   NP_001336061 XP_005247918
VERSION     NP_001336061.1
DBSOURCE    REFSEQ: accession NM_001349132.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 331)
  AUTHORS   Ricci Hagman J, Hult AK, Westman JS, Hosseini-Maaf B, Jongruamklang
            P, Saipin J, Bejrachandra S and Olsson ML.
  TITLE     Multiple miscarriages in two sisters of Thai origin with the rare
            Pk phenotype caused by a novel nonsense mutation at the B3GALNT1
            locus
  JOURNAL   Transfus Med 29 (3), 202-208 (2019)
   PUBMED   29873420
  REMARK    GeneRIF: Multiple miscarriages in two sisters of Thai origin with
            the rare P(k) phenotype caused by a novel nonsense mutation at the
            B3GALNT1 locus.
REFERENCE   2  (residues 1 to 331)
  AUTHORS   Westman JS, Benktander J, Storry JR, Peyrard T, Hult AK, Hellberg
            A, Teneberg S and Olsson ML.
  TITLE     Identification of the Molecular and Genetic Basis of PX2, a
            Glycosphingolipid Blood Group Antigen Lacking on
            Globoside-deficient Erythrocytes
  JOURNAL   J Biol Chem 290 (30), 18505-18518 (2015)
   PUBMED   26055721
  REMARK    GeneRIF: b1,3GalNAc-T1 uses different acceptors to form
            immunologically distinct glycosphingolipids.
REFERENCE   3  (residues 1 to 331)
  AUTHORS   Lan X, Hong X, Xu X, Chen S, Ma K, Liu Y, He J, Zhu F and Lyu H.
  TITLE     [A rare Pk phenotype caused by a 433 C>T mutation of the
            beta-1,3-N-acetylgalactosyltransferase gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 32 (3), 381-384 (2015)
   PUBMED   26037356
  REMARK    GeneRIF: The Pk phenotype is resulted from 433 C>T mutation in the
            B3GALNT1 gene.
REFERENCE   4  (residues 1 to 331)
  AUTHORS   Lin JJ, Wang XD and Zhu SY.
  TITLE     alpha-1,3-N-acetylgalactose aminotransferase gene 539G>C mutation
            leads to the A2B isoform
  JOURNAL   Genet Mol Res 13 (2), 2987-2993 (2014)
   PUBMED   24782133
  REMARK    GeneRIF: The N-acetylgalactose aminotransferase gene 539G>C
            mutation resulted in A2B phenotype generation, and individual serum
            contained the anti-A1 antibody.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 331)
  AUTHORS   Umeyama,H., Iwadate,M. and Taguchi,Y.H.
  TITLE     TINAGL1 and B3GALNT1 are potential therapy target genes to suppress
            metastasis in non-small cell lung cancer
  JOURNAL   BMC Genomics 15 Suppl 9 (Suppl 9), S2 (2014)
   PUBMED   25521548
  REMARK    GeneRIF: TINAGL1 and B3GALNT1 are possible candidates for drug
            compounds that inhibit their gene expression
REFERENCE   6  (residues 1 to 331)
  AUTHORS   Okajima T, Nakamura Y, Uchikawa M, Haslam DB, Numata SI, Furukawa
            K, Urano T and Furukawa K.
  TITLE     Expression cloning of human globoside synthase cDNAs.
            Identification of beta 3Gal-T3 as
            UDP-N-acetylgalactosamine:globotriaosylceramide beta
            1,3-N-acetylgalactosaminyltransferase
  JOURNAL   J Biol Chem 275 (51), 40498-40503 (2000)
   PUBMED   10993897
REFERENCE   7  (residues 1 to 331)
  AUTHORS   Amado M, Almeida R, Schwientek T and Clausen H.
  TITLE     Identification and characterization of large galactosyltransferase
            gene families: galactosyltransferases for all functions
  JOURNAL   Biochim Biophys Acta 1473 (1), 35-53 (1999)
   PUBMED   10580128
  REMARK    Review article
REFERENCE   8  (residues 1 to 331)
  AUTHORS   Amado M, Almeida R, Carneiro F, Levery SB, Holmes EH, Nomoto M,
            Hollingsworth MA, Hassan H, Schwientek T, Nielsen PA, Bennett EP
            and Clausen H.
  TITLE     A family of human beta3-galactosyltransferases. Characterization of
            four members of a
            UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine
            beta-1,3-galactosyltransferase family
  JOURNAL   J Biol Chem 273 (21), 12770-12778 (1998)
   PUBMED   9582303
REFERENCE   9  (residues 1 to 331)
  AUTHORS   Almeida R, Amado M, David L, Levery SB, Holmes EH, Merkx G, van
            Kessel AG, Rygaard E, Hassan H, Bennett E and Clausen H.
  TITLE     A family of human beta4-galactosyltransferases. Cloning and
            expression of two novel UDP-galactose:beta-n-acetylglucosamine
            beta1, 4-galactosyltransferases, beta4Gal-T2 and beta4Gal-T3
  JOURNAL   J Biol Chem 272 (51), 31979-31991 (1997)
   PUBMED   9405390
  REMARK    Erratum:[J Biol Chem 1998 Jul 17;273(29):18674]
REFERENCE   10 (residues 1 to 331)
  AUTHORS   Taniguchi,N. and Makita,A.
  TITLE     Purification and characterization of UDP-N-acetylgalactosamine:
            globotriaosylceramide beta-3-N-acetylgalactosaminyltransferase, a
            synthase of human blood group P antigen, from canine spleen
  JOURNAL   J Biol Chem 259 (9), 5637-5642 (1984)
   PUBMED   6425294
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021649.18.
            On Mar 4, 2017 this sequence version replaced XP_005247918.1.
            
            Summary: This gene is a member of the
            beta-1,3-galactosyltransferase (beta3GalT) gene family. This family
            encodes type II membrane-bound glycoproteins with diverse enzymatic
            functions using different donor substrates (UDP-galactose and
            UDP-N-acetylglucosamine) and different acceptor sugars
            (N-acetylglucosamine, galactose, N-acetylgalactosamine). The
            beta3GalT genes are distantly related to the Drosophila Brainiac
            gene and have the protein coding sequence contained in a single
            exon. The beta3GalT proteins also contain conserved sequences not
            found in the beta4GalT or alpha3GalT proteins. The carbohydrate
            chains synthesized by these enzymes are designated as type 1,
            whereas beta4GalT enzymes synthesize type 2 carbohydrate chains.
            The ratio of type 1:type 2 chains changes during embryogenesis. By
            sequence similarity, the beta3GalT genes fall into at least two
            groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3,
            beta3GalT5). The encoded protein of this gene does not use
            N-acetylglucosamine as an acceptor sugar at all. [provided by
            RefSeq, Mar 2017].
            
            Transcript Variant: This variant (10) encodes isoform b. Variants
            1-5 and 8-39 all encode the same isoform (b).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1195342.1,
                                           SRR14038191.329612.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.1"
     Protein         1..331
                     /product="UDP-GalNAc:beta-1,
                     3-N-acetylgalactosaminyltransferase 1 isoform b"
                     /EC_number="2.4.1.79"
                     /note="globoside synthase; globotriaosylceramide
                     3-beta-N-acetylgalactosaminyltransferase; brainiac1; P
                     blood group globoside; UDP-Gal:betaGlcNAc beta
                     1,3-galactosyltransferase, polypeptide 3 (Globoside blood
                     group); P antigen synthase; UDP-GalNAc:betaGlcNAc
                     beta-1,3-galactosaminyltransferase, polypeptide 1
                     (Globoside blood group);
                     UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1;
                     b3Gal-T3; beta-3-Gx-T3; beta-1,3-GalNAc-T1;
                     beta-1,3-GalTase 3; beta-1,3-galactosyltransferase 3;
                     galactosylgalactosylglucosylceramide
                     beta-D-acetyl-galactosaminyltransferase;
                     UDP-N-acetylgalactosamine:globotriaosylceramide
                     beta-1,3-N-acetylgalactosaminyltransferase"
                     /calculated_mol_wt=39381
     Site            21..43
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75752.1)"
     Site            72
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O75752.1)"
     Region          92..285
                     /region_name="Galactosyl_T"
                     /note="Galactosyltransferase; pfam01762"
                     /db_xref="CDD:426415"
     Site            154
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O75752.1)"
     Site            198
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O75752.1)"
     Site            212
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O75752.1)"
     Site            326
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O75752.1)"
     CDS             1..331
                     /gene="B3GALNT1"
                     /gene_synonym="B3GALANT1; B3GALT3; beta3Gal-T3; galT3;
                     Gb4Cer; GLCT3; GLOB; P1"
                     /coded_by="NM_001349132.2:628..1623"
                     /note="isoform b is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS3193.1"
                     /db_xref="GeneID:8706"
                     /db_xref="HGNC:HGNC:918"
                     /db_xref="MIM:603094"
ORIGIN      
        1 masalwtvlp srmslrslkw sllllsllsf fvmwylslph ynviervnwm yfyeyepiyr
       61 qdfhftlreh sncshqnpfl vilvtshpsd vkarqairvt wgekkswwgy evltffllgq
      121 eaekedkmla lsledehlly gdiirqdfld tynnltlkti mafrwvtefc pnakyvmktd
      181 tdvfintgnl vkyllnlnhs ekfftgypli dnysyrgfyq kthisyqeyp fkvfppycsg
      241 lgyimsrdlv priyemmghv kpikfedvyv giclnllkvn ihipedtnlf flyrihldvc
      301 qlrrviaahg fsskeiitfw qvmlrnttch y
//
LOCUS       NP_001317063             218 aa            linear   PRI 30-DEC-2022
DEFINITION  protein N-lysine methyltransferase METTL21A isoform 1 [Homo
            sapiens].
ACCESSION   NP_001317063 XP_005246398
VERSION     NP_001317063.1
DBSOURCE    REFSEQ: accession NM_001330134.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 218)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 218)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 218)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (residues 1 to 218)
  AUTHORS   Jakobsson ME, Moen A, Bousset L, Egge-Jacobsen W, Kernstock S,
            Melki R and Falnes PO.
  TITLE     Identification and characterization of a novel human
            methyltransferase modulating Hsp70 protein function through lysine
            methylation
  JOURNAL   J Biol Chem 288 (39), 27752-27763 (2013)
   PUBMED   23921388
  REMARK    GeneRIF: methyltransferase METTL21A is the enzyme responsible for
            trimethylation of a conserved lysine residue found in several human
            Hsp70 (HSPA) proteins
REFERENCE   5  (residues 1 to 218)
  AUTHORS   Cloutier P, Lavallee-Adam M, Faubert D, Blanchette M and Coulombe
            B.
  TITLE     A newly uncovered group of distantly related lysine
            methyltransferases preferentially interact with molecular
            chaperones to regulate their activity
  JOURNAL   PLoS Genet 9 (1), e1003210 (2013)
   PUBMED   23349634
  REMARK    GeneRIF: METTL21A trimethylates Lys-561 in Hsp70 and corresponding
            residues in other isoforms (Hsc70, BiP)
REFERENCE   6  (residues 1 to 218)
  AUTHORS   Kernstock S, Davydova E, Jakobsson M, Moen A, Pettersen S,
            Maelandsmo GM, Egge-Jacobsen W and Falnes PO.
  TITLE     Lysine methylation of VCP by a member of a novel human protein
            methyltransferase family
  JOURNAL   Nat Commun 3, 1038 (2012)
   PUBMED   22948820
REFERENCE   7  (residues 1 to 218)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   8  (residues 1 to 218)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N,
            Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar
            M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC079767.7.
            On Aug 17, 2016 this sequence version replaced XP_005246398.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.2264023.1, BX425716.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..218
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.3"
     Protein         1..218
                     /product="protein N-lysine methyltransferase METTL21A
                     isoform 1"
                     /note="family with sequence similarity 119, member A;
                     protein N-lysine methyltransferase METTL21A; heat shock
                     protein 70kDa lysine (K) methyltransferase; HSPA lysine
                     methyltransferase; hepatocellular carcinoma-associated
                     antigen 557b; methyltransferase-like protein 21A;
                     methyltransferase like 21A"
                     /calculated_mol_wt=24469
     Region          25..190
                     /region_name="Methyltransf_16"
                     /note="Lysine methyltransferase; pfam10294"
                     /db_xref="CDD:313513"
     CDS             1..218
                     /gene="METTL21A"
                     /gene_synonym="FAM119A; HCA557b; HSPA-KMT"
                     /coded_by="NM_001330134.2:407..1063"
                     /note="isoform 1 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS2376.1"
                     /db_xref="GeneID:151194"
                     /db_xref="HGNC:HGNC:30476"
                     /db_xref="MIM:615257"
ORIGIN      
        1 malvpyeett efglqkfhkp latfsfanht iqirqdwrhl gvaavvwdaa ivlstylemg
       61 avelrgrsav elgagtglvg ivaallgahv titdrkvale flksnvqanl pphiqtktvv
      121 keltwgqnlg sfspgefdli lgadiiylee tftdllqtle hlcsnhsvil lacriryerd
      181 nnflamlerq ftvrkvhydp ekdvhiyeaq krnqkedl
//
LOCUS       NP_001374795            1465 aa            linear   PRI 30-DEC-2022
DEFINITION  helicase ARIP4 isoform c [Homo sapiens].
ACCESSION   NP_001374795
VERSION     NP_001374795.1
DBSOURCE    REFSEQ: accession NM_001387866.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1465)
  AUTHORS   He Q, Hao Q, Wu Y, Vadgama JV and Jiang Y.
  TITLE     CircRAD54L2 promotes triple-negative breast cancer progression by
            regulating the miR-888 family/PDK1 axis
  JOURNAL   Life Sci 312, 121128 (2023)
   PUBMED   36334805
  REMARK    GeneRIF: CircRAD54L2 promotes triple-negative breast cancer
            progression by regulating the miR-888 family/PDK1 axis.
REFERENCE   2  (residues 1 to 1465)
  AUTHORS   Geng T, Li M, Chen R, Yang S, Jin G, Jin T and Chen F.
  TITLE     Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung
            cancer in the Chinese Han population
  JOURNAL   BMC Cancer 22 (1), 1181 (2022)
   PUBMED   36384536
  REMARK    GeneRIF: Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of
            lung cancer in the Chinese Han population.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1465)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 1465)
  AUTHORS   Tsuchiya M, Isogai S, Taniguchi H, Tochio H, Shirakawa M, Morohashi
            KI, Hiraoka Y, Haraguchi T and Ogawa H.
  TITLE     Selective autophagic receptor p62 regulates the abundance of
            transcriptional coregulator ARIP4 during nutrient starvation
  JOURNAL   Sci Rep 5, 14498 (2015)
   PUBMED   26412716
  REMARK    GeneRIF: p62 is a novel binding partner for ARIP4, and that its
            binding regulates the cellular protein level of ARIP4 under
            conditions of metabolic stress.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1465)
  AUTHORS   Ogawa H, Komatsu T, Hiraoka Y and Morohashi K.
  TITLE     Transcriptional Suppression by Transient Recruitment of ARIP4 to
            Sumoylated nuclear receptor Ad4BP/SF-1
  JOURNAL   Mol Biol Cell 20 (19), 4235-4245 (2009)
   PUBMED   19692572
  REMARK    GeneRIF: The ATPase activity of ARIP4 was stimulated in the
            presence of sumoylated Ad4BP/SF-1 and the Ad4BP/SF-1-binding site
            containing double-stranded DNA.
REFERENCE   6  (residues 1 to 1465)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   7  (residues 1 to 1465)
  AUTHORS   Janne OA, Moilanen AM, Poukka H, Rouleau N, Karvonen U, Kotaja N,
            Hakli M and Palvimo JJ.
  TITLE     Androgen-receptor-interacting nuclear proteins
  JOURNAL   Biochem Soc Trans 28 (4), 401-405 (2000)
   PUBMED   10961928
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092037.2, AC113933.2 and AC099050.2.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR18074967.1452683.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2154529 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1465
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.2"
     Protein         1..1465
                     /product="helicase ARIP4 isoform c"
                     /EC_number="3.6.4.12"
                     /note="helicase ARIP4; RAD54-like protein 2; androgen
                     receptor-interacting protein 4; AR interacting protein 4"
                     /calculated_mol_wt=162391
     Region          1..150
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4B4.4)"
     Region          <134..905
                     /region_name="HepA"
                     /note="Superfamily II DNA or RNA helicase, SNF2 family
                     [Transcription, Replication, recombination and repair];
                     COG0553"
                     /db_xref="CDD:223627"
     Region          186..234
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4B4.4)"
     Region          271..547
                     /region_name="DEXHc_ARIP4"
                     /note="DEXH-box helicase domain of ARIP4; cd18069"
                     /db_xref="CDD:350827"
     Site            order(307..313,346,463..464)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350827"
     Region          463..466
                     /region_name="DEAH box"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4B4.4)"
     Region          551..555
                     /region_name="LXXLL motif 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4B4.4)"
     Region          649..673
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4B4.4)"
     Region          <1104..1412
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1118..1169
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4B4.4)"
     Site            1167
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4B4.4)"
     Site            1170
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4B4.4)"
     Region          1182..1219
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4B4.4)"
     Region          1245..1282
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4B4.4)"
     Site            1258
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4B4.4)"
     Region          1327..1331
                     /region_name="LXXLL motif 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4B4.4)"
     Region          1443..1465
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4B4.4)"
     CDS             1..1465
                     /gene="RAD54L2"
                     /gene_synonym="ARIP4; HSPC325; SRISNF2L"
                     /coded_by="NM_001387866.1:362..4759"
                     /note="isoform c is encoded by transcript variant 5"
                     /db_xref="GeneID:23132"
                     /db_xref="HGNC:HGNC:29123"
                     /db_xref="MIM:620006"
ORIGIN      
        1 msdesasgsd pdldpdvele daeeeeeeee vaveecdrdd eedllddpsl egmcgtehaq
       61 lgedgqqppr ctsttssqse pseqlrrhqg knlasedpkk kraqkpshmr rnirkllred
      121 qlepvtkaaq qeelerrkrl eqqrkdyaap iptvpleflp eeialrasdg pqlpprvlaq
      181 evicldsssg sedekssrde vielssgeed tlhivdsses vseddeeeek ggthvndvln
      241 qrdalgrvlv nlnhppeeen vflapqlara vkphqiggir flydnlvesl erfktssgfg
      301 cilahsmglg ktlqvisfid vlfrhtpakt vlaivpvntl qnwlaefnmw lpppealpad
      361 nkpeevqprf fkvhilndeh ktmasrakvm adwvseggvl lmgyemyrll tlkksfatgr
      421 pkktkkrshp viidldeedr qqefrrefek alcrpgpdvv icdeghrikn cqastsqalk
      481 nirsrrrvvl tgyplqnnli eywcmvdfvr pdflgtrqef snmferpiln gqcidstpqd
      541 vrlmryrshv lhsllegfvq rrghtvlkih lpakeenvil vrlskiqrdl ytqfmdrfrd
      601 cgssgwlgln plkafcvcck iwnhpdvlye alqkeslane qdldveelgs agtsarcppq
      661 gtkgkgedst lassmgeatn skflqgvgfn pfqergnniv tyewakdllt nyqtgvlens
      721 pkmvllfhli eesvklgdki lvfsqslstl alieeflgkr evpcppgteg qgaqkwvrni
      781 syfhgstpaf ererlinqfn dpsnlttwlf llstragclg vnliganrvv vfdaswnpch
      841 daqavcrvyr ygqkkpcyiy rlvadytlek kiydrqiskq gmsdrvvddl npmlnftrke
      901 venllhfvek epapqvslnv kgikesvlql aclkyphlit kepfehesll lnrkdhkltk
      961 aekkaakksy eedkrtsvpy trpsyaqyyp asdqsltsip afsqrnwqpt lkgdekpvas
     1021 vrpvqstpip mmprhvplgg svssasstnp smnfpinylq ragvlvqkvv tttdivipgl
     1081 nsstdvqari nagesihiir gtkgtyirts dgrifavrat gkpkvpedgr maasgsqgps
     1141 cestsngrhs asspkapdpe glarpvspds peiiselqqy advaaaresr qsspstnaal
     1201 pgppaqlmds savpgtalgt eprlgghcln ssllvtgqpc gdrhpvldlr ghkrklatpp
     1261 aaqessrrrs rkghlpapvq pyehgypvsg gfamppvsln hnlttpftsq agenslfmgs
     1321 tpsyyqlsnl ladarlvfpv ttdplvpagp vsssstatsv tasnpsfmln psvpgilpsy
     1381 slpfsqplls eprmfapfps pvlpsnlsrg msiypgymsp hagypaggll rsqvppfdsh
     1441 evaevgfssn ddedkdddvi evtgk
//
LOCUS       NP_001165439             839 aa            linear   PRI 30-DEC-2022
DEFINITION  cadherin-related family member 5 isoform 4 precursor [Homo
            sapiens].
ACCESSION   NP_001165439
VERSION     NP_001165439.2
DBSOURCE    REFSEQ: accession NM_001171968.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 839)
  AUTHORS   Gray ME, Johnson ZR, Modak D, Tamilselvan E, Tyska MJ and Sotomayor
            M.
  TITLE     Heterophilic and homophilic cadherin interactions in intestinal
            intermicrovillar links are species dependent
  JOURNAL   PLoS Biol 19 (12), e3001463 (2021)
   PUBMED   34871294
  REMARK    GeneRIF: Heterophilic and homophilic cadherin interactions in
            intestinal intermicrovillar links are species dependent.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 839)
  AUTHORS   Beck M, Baranger M, Moufok-Sadoun A, Bersuder E, Hinkel I,
            Mellitzer G, Martin E, Marisa L, Duluc I, de Reynies A, Gaiddon C,
            Freund JN and Gross I.
  TITLE     The atypical cadherin MUCDHL antagonizes colon cancer formation and
            inhibits oncogenic signaling through multiple mechanisms
  JOURNAL   Oncogene 40 (3), 522-535 (2021)
   PUBMED   33188295
  REMARK    GeneRIF: The atypical cadherin MUCDHL antagonizes colon cancer
            formation and inhibits oncogenic signaling through multiple
            mechanisms.
REFERENCE   3  (residues 1 to 839)
  AUTHORS   Gao J, Wang M, Li T, Liu Q, You L and Liao Q.
  TITLE     Up-regulation of CDHR5 expression promotes malignant phenotype of
            pancreatic ductal adenocarcinoma
  JOURNAL   J Cell Mol Med 24 (21), 12726-12735 (2020)
   PUBMED   33025744
  REMARK    GeneRIF: Up-regulation of CDHR5 expression promotes malignant
            phenotype of pancreatic ductal adenocarcinoma.
REFERENCE   4  (residues 1 to 839)
  AUTHORS   Montorsi L, Parenti S, Losi L, Ferrarini F, Gemelli C, Rossi A,
            Manco G, Ferrari S, Calabretta B, Tagliafico E, Zanocco-Marani T
            and Grande A.
  TITLE     Expression of mu-protocadherin is negatively regulated by the
            activation of the beta-catenin signaling pathway in normal and
            cancer colorectal enterocytes
  JOURNAL   Cell Death Dis 7 (6), e2263 (2016)
   PUBMED   27310872
  REMARK    GeneRIF: Expression of MUCDHL is negatively regulated by the
            activation of the beta-catenin signaling pathway in normal and
            cancer colorectal enterocytes.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 839)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   6  (residues 1 to 839)
  AUTHORS   Goldberg M, Wei M, Yuan L, Murty VV and Tycko B.
  TITLE     Biallelic expression of HRAS and MUCDHL in human and mouse
  JOURNAL   Hum Genet 112 (4), 334-342 (2003)
   PUBMED   12589428
  REMARK    GeneRIF: MUCDHL genes are biallelically expressed in multiple fetal
            and adult tissues both in humans and in mice
REFERENCE   7  (residues 1 to 839)
  AUTHORS   Goldberg M, Wei M, Tycko B, Falikovich I and Warburton D.
  TITLE     Identification and expression analysis of the human
            mu-protocadherin gene in fetal and adult kidneys
  JOURNAL   Am J Physiol Renal Physiol 283 (3), F454-F463 (2002)
   PUBMED   12167596
  REMARK    GeneRIF: identifed the human mu-protocadherin ortholog and examined
            its expression in the developing kidney
REFERENCE   8  (residues 1 to 839)
  AUTHORS   Paris MJ and Williams BR.
  TITLE     Characterization of a 500-kb contig spanning the region between
            c-Ha-Ras and MUC2 on chromosome 11p15.5
  JOURNAL   Genomics 69 (2), 196-202 (2000)
   PUBMED   11031102
REFERENCE   9  (residues 1 to 839)
  AUTHORS   Goldberg M, Peshkovsky C, Shifteh A and Al-Awqati Q.
  TITLE     mu-Protocadherin, a novel developmentally regulated protocadherin
            with mucin-like domains
  JOURNAL   J Biol Chem 275 (32), 24622-24629 (2000)
   PUBMED   10801787
REFERENCE   10 (residues 1 to 839)
  AUTHORS   Yagi T and Takeichi M.
  TITLE     Cadherin superfamily genes: functions, genomic organization, and
            neurologic diversity
  JOURNAL   Genes Dev 14 (10), 1169-1180 (2000)
   PUBMED   10817752
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP006284.2.
            On Jun 2, 2019 this sequence version replaced NP_001165439.1.
            
            Summary: This gene is a novel mucin-like gene that is a member of
            the cadherin superfamily. While encoding nonpolymorphic tandem
            repeats rich in proline, serine and threonine similar to mucin
            proteins, the gene also contains sequence encoding calcium-binding
            motifs found in all cadherins. The role of the hybrid extracellular
            region and the specific function of this protein have not yet been
            determined. Alternatively spliced transcript variants encoding
            different isoforms have been described. [provided by RefSeq, Jan
            2010].
            
            Transcript Variant: This variant (4) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1. This
            results in a shorter protein (isoform 4), compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY358368.1, SRR14038192.466598.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152474, SAMEA2161836
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..839
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     Protein         1..839
                     /product="cadherin-related family member 5 isoform 4
                     precursor"
                     /note="mucin and cadherin-like protein; mu-protocadherin;
                     differentiation-associated catenin regulator"
                     /calculated_mol_wt=84924
     sig_peptide     1..25
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2725
     Region          37..120
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(41..42,85,87,116,118..119)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            44
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from
                     UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Site            81
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Site            140
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from
                     UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Site            198
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from
                     UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Region          274..343
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            297
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from
                     UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Site            308
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Site            405
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from
                     UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Region          <454..645
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            520
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from
                     UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Region          534..639
                     /region_name="4 X 31 AA approximate tandem repeats"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Site            664..684
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Region          685..839
                     /region_name="Mediates interaction with USH1C and MYO7B
                     and is required for proper localization to microvilli tips
                     and function in microvilli organization.
                     /evidence=ECO:0000269|PubMed:24725409"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Region          718..783
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Site            764
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VHF2; propagated from
                     UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Site            804
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Region          805..839
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Site            811
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Site            813
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9HBB8.3)"
     Site            815
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9HBB8.3)"
     CDS             1..839
                     /gene="CDHR5"
                     /gene_synonym="MLPCDH; MU-PCDH; MUCDHL; MUPCDH"
                     /coded_by="NM_001171968.3:54..2573"
                     /note="isoform 4 precursor is encoded by transcript
                     variant 4"
                     /db_xref="CCDS:CCDS91397.1"
                     /db_xref="GeneID:53841"
                     /db_xref="HGNC:HGNC:7521"
                     /db_xref="MIM:606839"
ORIGIN      
        1 mgswallwpp llftgllvrp pgtmaqaqyc svnkdifeve entnvteplv dihvpegqev
       61 tlgalstpfa friqgnqlfl nvtpdyeeks lleaqllcqs ggtlvtqlrv fvsvldvndn
      121 apefpfktke irveedtkvn stvipetqlq aedrdkddil fytlqemtag asdyfslvsv
      181 nrpalrldrp ldfyerpnmt fwllvrdtpg envepshtat atlvlnvvpa dlrppwflpc
      241 tfsdgyvciq aqyhgavptg hilpsplvlr pgpiyaedgd rginqpiiys ifrgnvngtf
      301 iihpdsgnlt varsvpspmt flllvkgqqa dlarysvtqv tveavaaags pprfpqrlyr
      361 gtvargagag vvvkdaaaps qplriqaqdp efsdlnsait yritnhshfr megevvlttt
      421 tlaqagafya eveahntvts gtattvieiq vseqeppste aggttgpwts ttsevprppe
      481 psqgpsttss gggtgphpps gttlrpptss tpggppgaen stshqpatpg gdtaqtpkpg
      541 tsqpmppgvg tstshqpatp sggtaqtpep gtsqpmppsm gtstshqpat pgggtaqtpe
      601 agtsqpmppg mgtstshqpt tpgggtaqtp epgtsqpmpl skstpssggg psedkrfsvv
      661 dmaalggvlg allllallgl avlvhkhygp rlkcccgkap epqpqgfdnq aflpdhkanw
      721 apvpspthdp kpaeapmpae pappgpaspg gapeppaaar aggsptavrs iltkerrpeg
      781 gykavwfged igteadvvvl naptldvdga sdsgsgdege gagrgggpyd apggddsyi
//
LOCUS       NP_001010880             641 aa            linear   PRI 31-DEC-2022
DEFINITION  zinc finger protein 780A isoform b [Homo sapiens].
ACCESSION   NP_001010880 XP_209140
VERSION     NP_001010880.2
DBSOURCE    REFSEQ: accession NM_001010880.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 641)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 641)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A,
            Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel
            S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA,
            Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J,
            Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M,
            Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W,
            Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V,
            Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready
            P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S,
            Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer
            J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D,
            Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo
            N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS,
            DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA,
            Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM and Lucas
            SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005614.1, DB097567.1, AK091274.1, DA758840.1 and BU685481.1.
            On Dec 10, 2008 this sequence version replaced NP_001010880.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR and uses
            an alternate in-frame splice site in the 5' coding region, compared
            to variant 1, resulting in an isoform (b) that is 1 aa shorter than
            isoform a. Both variants 2 and 3 encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK091274.1, SRR18074969.1085232.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467144, SAMEA2467148
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..641
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     Protein         1..641
                     /product="zinc finger protein 780A isoform b"
                     /calculated_mol_wt=74400
     Region          6..66
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          167..187
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          179..203
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          195..215
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          219..595
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          223..243
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(228,230,232,234..235,238..239,242,256,258,262..263,
                     266..267,270,284,286,288,290..291,294..295,298)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          251..271
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          279..299
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          307..327
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          335..355
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(340,342,344,346..347,350..351,354,368,370,374..375,
                     378..379,382,396,398,400,402..403,406..407,410)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          363..383
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          391..411
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          419..439
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          447..467
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          475..495
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          503..523
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          531..551
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(536,538,540,542..543,546..547,550,564,566,570..571,
                     574..575,578,592,594,596,598..599,602..603,606)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          559..579
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          587..607
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          600..623
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          615..635
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..641
                     /gene="ZNF780A"
                     /gene_synonym="ZNF780"
                     /coded_by="NM_001010880.3:266..2191"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS33026.2"
                     /db_xref="GeneID:284323"
                     /db_xref="HGNC:HGNC:27603"
ORIGIN      
        1 mvhgsvtfrd vaidfsqeew eclqpdqrtl yrdvmlenys hlislgssis kpdvitlleq
       61 ekepwmvvrk etsrrypdle lkygpekvsp endtsevnlp kqvikqistt lgieafyfrn
      121 dseyrqfegl qgyqegninq kmisyeklpt htphaslicn thkpyeckec gkyfsrsanl
      181 iqhqsihtge kpfeckecgk afrlhiqftr hqkfhtgekp fecnecgkaf slltllnrhk
      241 nihtgeklfe ckecgksfnr ssnlvqhqsi hsgvkpyeck ecgkgfnrga hliqhqkihs
      301 nekpfvckec gmafryhyql iehcqihtge kpfeckecgk aftlltklvr hqkihtgekp
      361 fecrecgkaf sllnqlnrhk nihtgekpfe ckecgksfnr ssnlvqhqsi hagikpyeck
      421 ecgkgfnrga hliqhqkihs nekpfvcrec emafryhcql iehsrihtgd kpfecqdcgk
      481 afnrgsslvq hqsihtgekp yeckecgkaf rlylqlsqhq kthtgekpfe ckecgkffrr
      541 gsnlnqhrsi htgkkpfeck ecgkafrlhm hlirhqklht gekpfeckec gkafrlhmql
      601 irhqklhtge kpfeckecgk vfslptqlnr hknihtgeka s
//
LOCUS       NP_001374867            2719 aa            linear   PRI 31-DEC-2022
DEFINITION  dmX-like protein 1 isoform 6 [Homo sapiens].
ACCESSION   NP_001374867
VERSION     NP_001374867.1
DBSOURCE    REFSEQ: accession NM_001387938.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2719)
  AUTHORS   Davis LK, Meyer KJ, Schindler EI, Beck JS, Rudd DS, Grundstad AJ,
            Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC,
            Russell SR, Wassink TH, Sheffield VC and Stone EM.
  TITLE     Copy number variations and primary open-angle glaucoma
  JOURNAL   Invest Ophthalmol Vis Sci 52 (10), 7122-7133 (2011)
   PUBMED   21310917
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 2719)
  AUTHORS   Oshikawa M, Tsutsui C, Ikegami T, Fuchida Y, Matsubara M, Toyama S,
            Usami R, Ohtoko K and Kato S.
  TITLE     Full-length transcriptome analysis of human retina-derived cell
            lines ARPE-19 and Y79 using the vector-capping method
  JOURNAL   Invest Ophthalmol Vis Sci 52 (9), 6662-6670 (2011)
   PUBMED   21697133
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 2719)
  AUTHORS   Koldehoff M, Zakrzewski JL, Klein-Hitpass L, Beelen DW and
            Elmaagacli AH.
  TITLE     Gene profiling of growth factor independence 1B gene (Gfi-1B) in
            leukemic cells
  JOURNAL   Int J Hematol 87 (1), 39-47 (2008)
   PUBMED   18224412
REFERENCE   4  (residues 1 to 2719)
  AUTHORS   van den Boom J, Wolter M, Blaschke B, Knobbe CB and Reifenberger G.
  TITLE     Identification of novel genes associated with astrocytoma
            progression using suppression subtractive hybridization and
            real-time reverse transcription-polymerase chain reaction
  JOURNAL   Int J Cancer 119 (10), 2330-2338 (2006)
   PUBMED   16865689
REFERENCE   5  (residues 1 to 2719)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   6  (residues 1 to 2719)
  AUTHORS   Kraemer C, Enklaar T, Zabel B and Schmidt ER.
  TITLE     Mapping and structure of DMXL1, a human homologue of the DmX gene
            from Drosophila melanogaster coding for a WD repeat protein
  JOURNAL   Genomics 64 (1), 97-101 (2000)
   PUBMED   10708522
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC118465.2 and AC027320.5.
            
            Summary: The protein encoded by this gene is a member of the WD
            repeat superfamily of proteins, which have regulatory functions.
            This gene is expressed in many tissue types including several types
            of eye tissue, and it has been associated with ocular phenotypes.
            In addition, it is upregulated in cultured cells that overexpress
            growth factor independence 1B, a transcription factor that is
            essential for hematopoietic cell development. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Nov
            2014].
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2719
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.1"
     Protein         1..2719
                     /product="dmX-like protein 1 isoform 6"
                     /note="dmX-like protein 1"
                     /calculated_mol_wt=303673
     Region          108..145
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y485.3)"
     Region          114..148
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          162..218
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          166..206
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y485.3)"
     Region          229..277
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y485.3)"
     Region          234..267
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Site            324
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9Y485.3)"
     Region          420..450
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y485.3)"
     Site            422
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6PNC0; propagated from
                     UniProtKB/Swiss-Prot (Q9Y485.3)"
     Site            425
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6PNC0; propagated from
                     UniProtKB/Swiss-Prot (Q9Y485.3)"
     Site            436
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9Y485.3)"
     Region          476..516
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y485.3)"
     Region          813..1546
                     /region_name="Rav1p_C"
                     /note="RAVE protein 1 C terminal; pfam12234"
                     /db_xref="CDD:432413"
     Region          2439..2696
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          2483..2528
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          2533..2575
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          2582..2617
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          2623..2659
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..2719
                     /gene="DMXL1"
                     /coded_by="NM_001387938.1:484..8643"
                     /note="isoform 6 is encoded by transcript variant 9"
                     /db_xref="GeneID:1657"
                     /db_xref="HGNC:HGNC:2937"
                     /db_xref="MIM:605671"
ORIGIN      
        1 mnlhqvltga vnpgdhcfsv gsigdqrfta yasgcdivil gsdferlqii pgakhgniqv
       61 gcvdcsmqqg kiaasygnvi sifepvnlpk qkknlelysq wqksgqffle siahnitwdp
      121 tgsrlltgss ylqlwsntnl ekptedenln ktdlnfgdwk ciwhcktasq vhlmkfspdg
      181 effatagkdd cllkvwynve nwrtavtspd gssekqsqge idfsfvylah pravngfswr
      241 ktskympras vcnvlltcck dnvcrlwvet flpndcllyg gdcshwtesi nltnnfkrna
      301 sskervqnal evnlrhfrrg rrrslalvah tgylphqqdp hhvhrntplh analchfhia
      361 asinpatdip llpsitslsl neneektgpf vvhwlnnkel hftlsmevfl qqlrksfeqp
      421 sseasvedsn qadvksdeet ddgvddlkin pekkelgcdk mvpnssftsl ssaaidhqie
      481 vllsewskna dmlfsihpmd gsllvwhvdw ldeyqpgmfr qvqvsfvsri pvafptgayc
      541 nspsacfvas dgqylrlyea vidakkllse lsnpeiskyv gevfnivsqq starpgciia
      601 ldpitklhgr ktqllhvfee dfilnnlekk slgkdsilsn aghlssssiy pacsapylla
      661 tscsdekvrf wrcrvtdges atskngkidl ayiweewpll iedglqsnss itvpgrpvev
      721 scahtnrlav aykqpasnsr ssqdfvmhvs ifecestggs cwvleqtihl delstvldsg
      781 isvdsnlvay nkqdmylssk enitsntkhl vhldwmsred gshiltvgig sklfmygpla
      841 gkvqdqtgke tlafplwest kvvplskfvl lrsvdlvssv dgsppfpvsl swvrdgilvv
      901 gmdcemhvyc qwqpsskqep vitdsysgst psitslikqs nsssglhppk ktltrsmtsl
      961 aqkicgkkta fdpsvdmeds glfeaahvls ptlpqyhplq llelmdlgkv rrakailshl
     1021 vkciagevva lneaesnher rlrsltisas gsttrdpqaf nkaentdyte idsvpplply
     1081 allaadddsc ysslekssne stlsksnqls kesydelfqt qllmtdthml etdeentkpr
     1141 vidlsqyspt yfgpehaqvl sghllhsslp glsrmeqmsl maladtiatt stdigesrdr
     1201 sqggetldec glkfllavrl htflttslpa yraqllhqgl stshfawafh svaeeellnm
     1261 lpamqkddpt wselramgvg wwvrntrilr kciekvakaa fyrkndplda aifylamkkk
     1321 aviwglyrae kntrmtqffg hnfederwrk aalknafsll gkqrfehsaa ffllagclrd
     1381 aievclekln diqlalviar lyesefdtsa ayksilrkkv lgidspvsel cslninmhhd
     1441 pflrsmaywi ledysgalet likqpirend dqvlsasnpt vfnfynylrt hplllrrhfg
     1501 ssdtfsthms ltgksglagt inlserrlff ttasahlkag cpmlalevls kmpkvikktr
     1561 pfyrassfld tskdcspssp lkldaredks savdwsqsli ngfgsssegs sekqsnstls
     1621 fdwsqpsvvf qddslelkwd sdndeenedv pismkelkpl qrktdkkldd issnytesfs
     1681 tldendllnp sediiavqlk fraclkiltv elrtlstgye idggklryql yhwlekevia
     1741 lqrtcdfcsd aeelqsafgr nedefglned aedlphqtkv kqlrenfqek rqwllkyqsl
     1801 lrmflsycil hgshggglas vrmelilllq esqqetsepl fssplseqts vpllfactan
     1861 aktvvanpll hlsnlthdil haiinfdspp hpdiqsnkvy vmhtlaasls aciyqclcgs
     1921 hnyssfqtnq ftgmvyqtvl lphrpslktg sldealtpnt spaqwpgitc lirllnssge
     1981 eaqsgltvll ceiltavyls lfihglaths snelfrivah plnekmwsav fgggahvpsk
     2041 eqthsktlpv sslveegekq nkrfrpskms cresapltps sapvsqesla vkekfippel
     2101 siwdyfiakp flpssqsrae ydseeslgsd dddndddddv lasdfhlqeh snsnsyswsl
     2161 mrlamvqlvl nnlktfypfa ghdlaelpvs splchavlkt lqcweqvllr rleihggppq
     2221 nyiashtaee slsagpailr hkalleptnt pfkskhhlal svkrlwqylv kqeeiqetfi
     2281 kniftkkrcl neslednset iknsmmeepn inkieadlgy pggkariihk esdiitafav
     2341 nkanrnciai asshdvqeld vsgilatqvy twvdddieve tkgsedflvi harddltavq
     2401 gttpythsnp gtpinmpwlg stqtgrgasv mikkainnvr rmtshptlpy yltgaqdgsv
     2461 rmfewghsqq itcfrsggns rvtrmrfnyq gnkfgivdad gylslyqtnw kccpvtgsmp
     2521 kpyltwqchn ktandfvfvs sssliatagl stdnrnvclw dtlvapansl vhaftchdsg
     2581 atvlayapkh qllisggrkg ftyvfdlcqr qqrqlfqshd spvkavavdp teeyfvtgsa
     2641 egnikiwsls tfgllhtfvs eharqsifrn igtgvmqiet gpanhifscg adgtmkmril
     2701 pdqfsplnev lkndvkfml
//
LOCUS       NP_001005782              76 aa            linear   PRI 08-JAN-2023
DEFINITION  small ubiquitin-related modifier 1 isoform b [Homo sapiens].
ACCESSION   NP_001005782
VERSION     NP_001005782.1
DBSOURCE    REFSEQ: accession NM_001005782.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 76)
  AUTHORS   Cheng XH, Xu TT, Zhou LB, Li FY, Wang S, Liang HR, Tang JJ, Duan
            CQ, Jiang H, Zhang YF and Liu ZN.
  TITLE     SUMO1-modified DNA methyltransferase 1 induces DNA hypermethylation
            of VWC2 in the development of colorectal cancer
  JOURNAL   Neoplasma 69 (6), 1373-1385 (2022)
   PUBMED   36353938
  REMARK    GeneRIF: SUMO1-modified DNA methyltransferase 1 induces DNA
            hypermethylation of VWC2 in the development of colorectal cancer.
REFERENCE   2  (residues 1 to 76)
  AUTHORS   Ji M, Chai Z, Chen J, Li G, Li Q, Li M, Ding Y, Lu S, Ju G and Hou
            J.
  TITLE     Insights into the Allosteric Effect of SENP1 Q597A Mutation on the
            Hydrolytic Reaction of SUMO1 via an Integrated Computational Study
  JOURNAL   Molecules 27 (13), 4149 (2022)
   PUBMED   35807394
  REMARK    GeneRIF: Insights into the Allosteric Effect of SENP1 Q597A
            Mutation on the Hydrolytic Reaction of SUMO1 via an Integrated
            Computational Study.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 76)
  AUTHORS   Ramirez-Jarquin UN, Sharma M, Zhou W, Shahani N and Subramaniam S.
  TITLE     Deletion of SUMO1 attenuates behavioral and anatomical deficits by
            regulating autophagic activities in Huntington disease
  JOURNAL   Proc Natl Acad Sci U S A 119 (5) (2022)
   PUBMED   35086928
  REMARK    GeneRIF: Deletion of SUMO1 attenuates behavioral and anatomical
            deficits by regulating autophagic activities in Huntington disease.
REFERENCE   4  (residues 1 to 76)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   5  (residues 1 to 76)
  AUTHORS   Liao L, Chen Y, Zhou J and Ye J.
  TITLE     MicroRNA-133b Inhibits nTumor Cell Proliferation, Migration and
            Invasion by Targeting SUMO1 in Endometrial Carcinoma
  JOURNAL   Technol Cancer Res Treat 20, 15330338211065241 (2021)
   PUBMED   34918563
  REMARK    GeneRIF: MicroRNA-133b Inhibits nTumor Cell Proliferation,
            Migration and Invasion by Targeting SUMO1 in Endometrial Carcinoma.
REFERENCE   6  (residues 1 to 76)
  AUTHORS   Matunis MJ, Coutavas E and Blobel G.
  TITLE     A novel ubiquitin-like modification modulates the partitioning of
            the Ran-GTPase-activating protein RanGAP1 between the cytosol and
            the nuclear pore complex
  JOURNAL   J Cell Biol 135 (6 Pt 1), 1457-1470 (1996)
   PUBMED   8978815
REFERENCE   7  (residues 1 to 76)
  AUTHORS   Okura T, Gong L, Kamitani T, Wada T, Okura I, Wei CF, Chang HM and
            Yeh ET.
  TITLE     Protection against Fas/APO-1- and tumor necrosis factor-mediated
            cell death by a novel protein, sentrin
  JOURNAL   J Immunol 157 (10), 4277-4281 (1996)
   PUBMED   8906799
REFERENCE   8  (residues 1 to 76)
  AUTHORS   Shen Z, Pardington-Purtymun PE, Comeaux JC, Moyzis RK and Chen DJ.
  TITLE     Associations of UBE2I with RAD52, UBL1, p53, and RAD51 proteins in
            a yeast two-hybrid system
  JOURNAL   Genomics 37 (2), 183-186 (1996)
   PUBMED   8921390
REFERENCE   9  (residues 1 to 76)
  AUTHORS   Boddy MN, Howe K, Etkin LD, Solomon E and Freemont PS.
  TITLE     PIC 1, a novel ubiquitin-like protein which interacts with the PML
            component of a multiprotein complex that is disrupted in acute
            promyelocytic leukaemia
  JOURNAL   Oncogene 13 (5), 971-982 (1996)
   PUBMED   8806687
REFERENCE   10 (residues 1 to 76)
  AUTHORS   Shen Z, Pardington-Purtymun PE, Comeaux JC, Moyzis RK and Chen DJ.
  TITLE     UBL1, a human ubiquitin-like protein associating with human
            RAD51/RAD52 proteins
  JOURNAL   Genomics 36 (2), 271-279 (1996)
   PUBMED   8812453
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079354.4.
            
            Summary: This gene encodes a protein that is a member of the SUMO
            (small ubiquitin-like modifier) protein family. It functions in a
            manner similar to ubiquitin in that it is bound to target proteins
            as part of a post-translational modification system. However,
            unlike ubiquitin which targets proteins for degradation, this
            protein is involved in a variety of cellular processes, such as
            nuclear transport, transcriptional regulation, apoptosis, and
            protein stability. It is not active until the last four amino acids
            of the carboxy-terminus have been cleaved off. Several pseudogenes
            have been reported for this gene. Alternate transcriptional splice
            variants encoding different isoforms have been characterized.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.3151036.1, BG540418.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..76
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     Protein         1..76
                     /product="small ubiquitin-related modifier 1 isoform b"
                     /note="GAP modifying protein 1; sentrin; SMT3 suppressor
                     of mif two 3 homolog 1; SMT3 homolog 3; ubiquitin-like
                     protein UBL1; ubiquitin-like protein SMT3C;
                     ubiquitin-homology domain protein PIC1"
                     /calculated_mol_wt=8668
     Region          4..71
                     /region_name="Ubl_SUMO1"
                     /note="ubiquitin-like (Ubl) domain found in small
                     ubiquitin-related modifier 1 (SUMO-1) and similar
                     proteins; cd16114"
                     /db_xref="CDD:340531"
     Site            order(4..14,17,21,25,29,36,38,67,69..71)
                     /site_type="other"
                     /note="SUMO1-E2I-RanBP2 interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:340531"
     Site            order(4..6,33,35..36,38,42..45,64,66..71)
                     /site_type="other"
                     /note="SUMO1-SAE2-SAE1-ATP-Mg complex [polypeptide
                     binding]"
                     /db_xref="CDD:340531"
     Site            order(4,6,8,10..14,16..18,21..22,25,29,35..36,38,40,43,45,
                     64,66..71)
                     /site_type="other"
                     /note="SUMO1-SAE2-SAE1 complex [polypeptide binding]"
                     /db_xref="CDD:340531"
     Site            order(4,35,38,40,42..43,45,50,54,64,66..71)
                     /site_type="other"
                     /note="SUMO1-SENP1-Rangap complex [polypeptide binding]"
                     /db_xref="CDD:340531"
     Site            order(4,41..42,56..58,60..62,64..66)
                     /site_type="other"
                     /note="SUMO1-UBC9 interaction site [polypeptide binding]"
                     /db_xref="CDD:340531"
     Site            order(7..13,17..18,21..22,25,29..30)
                     /site_type="other"
                     /note="peptide binding site 1 [polypeptide binding]"
                     /db_xref="CDD:340531"
     Site            order(7,9..14,16..18,21..22,25..26,28..30)
                     /site_type="other"
                     /note="peptide binding site 2 [polypeptide binding]"
                     /db_xref="CDD:340531"
     Site            order(8..12,17,21..22,25,29)
                     /site_type="other"
                     /note="SUMO1-Ysmb-9 interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:340531"
     Site            order(23,29)
                     /site_type="other"
                     /note="key conserved lysines"
                     /db_xref="CDD:340531"
     Site            order(33,67..71)
                     /site_type="other"
                     /note="SUMO1-UBE2K interaction site [polypeptide binding]"
                     /db_xref="CDD:340531"
     Site            order(35,38,40,42..45,47,50,64,66..71)
                     /site_type="other"
                     /note="SUMO1-SENP2 interaction site [polypeptide binding]"
                     /db_xref="CDD:340531"
     Site            order(35,38,40,42..43,45,47,49..50,54..55,64,66..71)
                     /site_type="other"
                     /note="SUMO1-SENP1 interaction site [polypeptide binding]"
                     /db_xref="CDD:340531"
     CDS             1..76
                     /gene="SUMO1"
                     /gene_synonym="DAP1; GMP1; OFC10; PIC1; SENP2; SMT3;
                     SMT3C; SMT3H3; UBL1"
                     /coded_by="NM_001005782.2:147..377"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS46493.1"
                     /db_xref="GeneID:7341"
                     /db_xref="HGNC:HGNC:12502"
                     /db_xref="MIM:601912"
ORIGIN      
        1 msdqdsseih fkvkmtthlk klkesycqrq gvpmnslrfl fegqriadnh tpkelgmeee
       61 dvievyqeqt gghstv
//
LOCUS       NP_001317362             707 aa            linear   PRI 18-JAN-2023
DEFINITION  SANT and BTB domain regulator of class switch recombination isoform
            b [Homo sapiens].
ACCESSION   NP_001317362 XP_005264663
VERSION     NP_001317362.1
DBSOURCE    REFSEQ: accession NM_001330433.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 707)
  AUTHORS   Zheng S, Matthews AJ, Rahman N, Herrick-Reynolds K, Sible E, Choi
            JE, Wishnie A, Ng YK, Rhodes D, Elledge SJ and Vuong BQ.
  TITLE     The uncharacterized SANT and BTB domain-containing protein SANBR
            inhibits class switch recombination
  JOURNAL   J Biol Chem 296, 100625 (2021)
   PUBMED   33831416
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC016747.7.
            On Aug 29, 2016 this sequence version replaced XP_005264663.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.50611.1,
                                           SRR1660803.235601.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..707
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p15"
     Protein         1..707
                     /product="SANT and BTB domain regulator of class switch
                     recombination isoform b"
                     /note="SANT and BTB domain regulator of class switch
                     recombination"
                     /calculated_mol_wt=80741
     Region          118..142
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSI8.2)"
     Region          147..248
                     /region_name="DUF3342"
                     /note="Domain of unknown function (DUF3342); pfam11822"
                     /db_xref="CDD:432102"
     Region          555..622
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSI8.2)"
     CDS             1..707
                     /gene="SANBR"
                     /gene_synonym="KIAA1841"
                     /coded_by="NM_001330433.2:304..2427"
                     /note="isoform b is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS1867.1"
                     /db_xref="GeneID:84542"
                     /db_xref="HGNC:HGNC:29387"
                     /db_xref="MIM:620213"
ORIGIN      
        1 msrgysennn flnnnnqmvl dmilypligi pqtinwetia rlvpgltpke cakrfdelks
       61 sgsspvdnqy nslmaagesp vetlatyiks slldihgefq etpvghdavs ktgrhsiast
      121 rncssesenc tthnggemte esegpnmvih vcdeaknlke dftcprdlli semkyfaeyl
      181 smdaqrweev disvhcdvhi fnwlikyikr ntkenkdcem ptlepgnvis ilisseflkm
      241 dslveqciqy chknmnaiva tpcnmncina nlltriadlf shnevddlkd kkdkfksklf
      301 ckkierlfdp eylnpdsrsn aatlyrcclc kklltketer ripcipgkin vdrrgnivyi
      361 hirdktwdvh eylnslfeel kswrdvywrl wgtinwltcs rcyqaflcie fshcqyhset
      421 vvyptaassl ntvgtgiypc cnqkvlrfdp tqltkgckvr dhmvtlrdqg eggdlpscpt
      481 armlddlhky rdvivvpfsk dtvsdvgvgl cdekgiecdv llepntpwgp ktgelnafls
      541 lknwtlqlkq qslfseeeey ttgsevtede vgdeeevskk qrkkekpkkf trqpkkqvss
      601 pcaqrkekal eksasrdvsp fvmsmqknkw datrslrfnq daqreddqrr mteitghlik
      661 mrlgdldrvk skeaketdkl rprdgtvsks nrksglssvl lmtvllc
//
LOCUS       NP_000661                380 aa            linear   PRI 22-JAN-2023
DEFINITION  all-trans-retinol dehydrogenase [NAD(+)] ADH4 isoform 2 [Homo
            sapiens].
ACCESSION   NP_000661
VERSION     NP_000661.2
DBSOURCE    REFSEQ: accession NM_000670.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 380)
  AUTHORS   Karunakara SH, Puttahanumantharayappa LD, Sannappa Gowda NG,
            Shiragannavar VD and Santhekadur PK.
  TITLE     Novel Insights into MEG3/miR664a-3p/ADH4 Axis and Its Possible Role
            in Hepatocellular Carcinoma from an in Silico Perspective
  JOURNAL   Genes (Basel) 13 (12), 2254 (2022)
   PUBMED   36553522
  REMARK    GeneRIF: Novel Insights into MEG3/miR664a-3p/ADH4 Axis and Its
            Possible Role in Hepatocellular Carcinoma from an in Silico
            Perspective.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 380)
  AUTHORS   Cui J, Peng W, Yi T, Gao P, Zhou M and Zhu T.
  TITLE     No significant association between SNPs in the CLOCK and ADH4 genes
            and susceptibility to cluster headaches: A systematic review and
            meta-analysis
  JOURNAL   Ann Hum Genet 86 (4), 159-170 (2022)
   PUBMED   35437765
  REMARK    GeneRIF: No significant association between SNPs in the CLOCK and
            ADH4 genes and susceptibility to cluster headaches: A systematic
            review and meta-analysis.
REFERENCE   3  (residues 1 to 380)
  AUTHORS   Luo J, Hou Y, Ma W, Xie M, Jin Y, Xu L, Li C, Wang Y, Chen J, Chen
            W, Zheng Y and Yu D.
  TITLE     A novel mechanism underlying alcohol dehydrogenase expression:
            hsa-miR-148a-3p promotes ADH4 expression via an AGO1-dependent
            manner in control and ethanol-exposed hepatic cells
  JOURNAL   Biochem Pharmacol 189, 114458 (2021)
   PUBMED   33556337
  REMARK    GeneRIF: A novel mechanism underlying alcohol dehydrogenase
            expression: hsa-miR-148a-3p promotes ADH4 expression via an
            AGO1-dependent manner in control and ethanol-exposed hepatic cells.
REFERENCE   4  (residues 1 to 380)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 380)
  AUTHORS   Papasavva M, Katsarou MS, Vikelis M, Mitropoulou E, Dermitzakis EV,
            Papakonstantinou S, Arvaniti C, Mitsikostas DD, Gozes I, Tsatsakis
            AM and Drakoulis N.
  TITLE     Analysis of HCRTR2, GNB3, and ADH4 Gene Polymorphisms in a
            Southeastern European Caucasian Cluster Headache Population
  JOURNAL   J Mol Neurosci 70 (3), 467-474 (2020)
   PUBMED   31768945
  REMARK    GeneRIF: Analysis of HCRTR2, GNB3, and ADH4 Gene Polymorphisms in a
            Southeastern European Caucasian Cluster Headache Population.
REFERENCE   6  (residues 1 to 380)
  AUTHORS   Edman K and Maret W.
  TITLE     Alcohol dehydrogenase genes: restriction fragment length
            polymorphisms for ADH4 (pi-ADH) and ADH5 (chi-ADH) and construction
            of haplotypes among different ADH classes
  JOURNAL   Hum Genet 90 (4), 395-401 (1992)
   PUBMED   1362387
REFERENCE   7  (residues 1 to 380)
  AUTHORS   von Bahr-Lindstrom H, Jornvall H and Hoog JO.
  TITLE     Cloning and characterization of the human ADH4 gene
  JOURNAL   Gene 103 (2), 269-274 (1991)
   PUBMED   1889753
REFERENCE   8  (residues 1 to 380)
  AUTHORS   Hoog,J.O., von Bahr-Lindstrom,H., Heden,L.O., Holmquist,B.,
            Larsson,K., Hempel,J., Vallee,B.L. and Jornvall,H.
  TITLE     Structure of the class II enzyme of human liver alcohol
            dehydrogenase: combined cDNA and protein sequence determination of
            the pi subunit
  JOURNAL   Biochemistry 26 (7), 1926-1932 (1987)
   PUBMED   3036213
REFERENCE   9  (residues 1 to 380)
  AUTHORS   Mardh,G., Dingley,A.L., Auld,D.S. and Vallee,B.L.
  TITLE     Human class II (pi) alcohol dehydrogenase has a redox-specific
            function in norepinephrine metabolism
  JOURNAL   Proc Natl Acad Sci U S A 83 (23), 8908-8912 (1986)
   PUBMED   3466164
REFERENCE   10 (residues 1 to 380)
  AUTHORS   Lange,L.G., Sytkowski,A.J. and Vallee,B.L.
  TITLE     Human liver alcohol dehydrogenase: purification, composition, and
            catalytic features
  JOURNAL   Biochemistry 15 (21), 4687-4693 (1976)
   PUBMED   9982
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002026.2 and AC019131.7.
            On Aug 1, 2005 this sequence version replaced NP_000661.1.
            
            Summary: This gene encodes class II alcohol dehydrogenase 4 pi
            subunit, which is a member of the alcohol dehydrogenase family.
            Members of this enzyme family metabolize a wide variety of
            substrates, including ethanol, retinol, other aliphatic alcohols,
            hydroxysteroids, and lipid peroxidation products. Class II alcohol
            dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits
            a high activity for oxidation of long-chain aliphatic alcohols and
            aromatic alcohols and is less sensitive to pyrazole. This gene is
            localized to chromosome 4 in the cluster of alcohol dehydrogenase
            genes. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            lacks an exon in the 5' coding region, which results in use of an
            alternate start codon compared to variant 1. It encodes isoform 2,
            which is shorter than and has a novel N-terminus compared to
            isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC022319.1, AK290835.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162895 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265512.12/ ENSP00000265512.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..380
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q23"
     Protein         1..380
                     /product="all-trans-retinol dehydrogenase [NAD(+)] ADH4
                     isoform 2"
                     /EC_number="1.1.1.105"
                     /note="aldehyde reductase; alcohol dehydrogenase class II
                     pi chain; epididymis secretory protein Li 4;
                     all-trans-retinol dehydrogenase [NAD(+)] ADH4"
                     /calculated_mol_wt=40091
     Region          3..380
                     /region_name="alcohol_DH_class_I_II_IV"
                     /note="class I, II, IV alcohol dehydrogenases; cd08299"
                     /db_xref="CDD:176259"
     Site            order(47,69,180)
                     /site_type="other"
                     /note="catalytic Zn binding site [ion binding]"
                     /db_xref="CDD:176259"
     Site            order(48..49,180,184,205..209,229..230,234,274..275,
                     279..280,298..299,323..325,375)
                     /site_type="other"
                     /note="NAD binding site [chemical binding]"
                     /db_xref="CDD:176259"
     Site            order(49,69,95,118,147,300)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:176259"
     Site            order(99..100,102,105,113)
                     /site_type="other"
                     /note="structural Zn binding site [ion binding]"
                     /db_xref="CDD:176259"
     Site            order(103..104,107,112,266..267,278,291..292,297..298,
                     306..311,314..324)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:176259"
     Site            121
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08319.5)"
     Site            278
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08319.5)"
     CDS             1..380
                     /gene="ADH4"
                     /gene_synonym="ADH-2; HEL-S-4"
                     /coded_by="NM_000670.5:76..1218"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS34032.1"
                     /db_xref="GeneID:127"
                     /db_xref="HGNC:HGNC:252"
                     /db_xref="MIM:103740"
ORIGIN      
        1 mgtkgkvikc kaaiaweagk plcieeveva ppkahevriq iiatslchtd atvidskfeg
       61 lafpvivghe aagivesigp gvtnvkpgdk viplyaplcr kckfclsplt nlcgkisnlk
      121 spasdqqlme dktsrftckg kpvyhffgts tfsqytvvsd inlakiddda nlervcllgc
      181 gfstgygaai nnakvtpgst cavfglggvg lsavmgckaa gasriigidi nsekfvkaka
      241 lgatdclnpr dlhkpiqevi ieltkggvdf aldcaggset mkaaldctta gwgsctfigv
      301 aagskgltif peeliigrti ngtffggwks vdsipklvtd yknkkfnlda lvthtlpfdk
      361 iseafdlmnq gksvrtilif
//
LOCUS       NP_001333508             321 aa            linear   PRI 07-FEB-2023
DEFINITION  zinc finger protein with KRAB and SCAN domains 1 isoform d [Homo
            sapiens].
ACCESSION   NP_001333508 XP_005250622
VERSION     NP_001333508.1
DBSOURCE    REFSEQ: accession NM_001346579.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 321)
  AUTHORS   Song R, Ma S, Xu J, Ren X, Guo P, Liu H, Li P, Yin F, Liu M, Wang
            Q, Yu L, Liu J, Duan B, Rahman NA, Wolczynski S, Li G and Li X.
  TITLE     A novel polypeptide encoded by the circular RNA ZKSCAN1 suppresses
            HCC via degradation of mTOR
  JOURNAL   Mol Cancer 22 (1), 16 (2023)
   PUBMED   36691031
  REMARK    GeneRIF: A novel polypeptide encoded by the circular RNA ZKSCAN1
            suppresses HCC via degradation of mTOR.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 321)
  AUTHORS   Li J, Bao S, Wang L and Wang R.
  TITLE     CircZKSCAN1 Suppresses Hepatocellular Carcinoma Tumorigenesis by
            Regulating miR-873-5p/Downregulation of Deleted in Liver Cancer 1
  JOURNAL   Dig Dis Sci 66 (12), 4374-4383 (2021)
   PUBMED   33439397
  REMARK    GeneRIF: CircZKSCAN1 Suppresses Hepatocellular Carcinoma
            Tumorigenesis by Regulating miR-873-5p/Downregulation of Deleted in
            Liver Cancer 1.
REFERENCE   3  (residues 1 to 321)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 321)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 321)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 321)
  AUTHORS   Jikuya H, Takano J, Kikuno R, Hirosawa M, Nagase T, Nomura N and
            Ohara O.
  TITLE     Characterization of long cDNA clones from human adult spleen. II.
            The complete sequences of 81 cDNA clones
  JOURNAL   DNA Res 10 (1), 49-57 (2003)
   PUBMED   12693554
REFERENCE   7  (residues 1 to 321)
  AUTHORS   Tommerup N and Vissing H.
  TITLE     Isolation and fine mapping of 16 novel human zinc finger-encoding
            cDNAs identify putative candidate genes for developmental and
            malignant disorders
  JOURNAL   Genomics 27 (2), 259-264 (1995)
   PUBMED   7557990
REFERENCE   8  (residues 1 to 321)
  AUTHORS   Rousseau-Merck MF, Duro D, Berger R and Thiesen HJ.
  TITLE     Chromosomal localization of two KOX zinc finger genes on chromosome
            bands 7q21-q22
  JOURNAL   Ann Genet 38 (2), 81-84 (1995)
   PUBMED   7486829
REFERENCE   9  (residues 1 to 321)
  AUTHORS   Huebner K, Druck T, Croce CM and Thiesen HJ.
  TITLE     Twenty-seven nonoverlapping zinc finger cDNAs from human T cells
            map to nine different chromosomes with apparent clustering
  JOURNAL   Am J Hum Genet 48 (4), 726-740 (1991)
   PUBMED   2014798
REFERENCE   10 (residues 1 to 321)
  AUTHORS   Thiesen HJ.
  TITLE     Multiple genes encoding zinc finger domains are expressed in human
            T cells
  JOURNAL   New Biol 2 (4), 363-374 (1990)
   PUBMED   2288909
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004522.3 and AC093619.5.
            On Oct 21, 2016 this sequence version replaced XP_005250622.1.
            
            Summary: This gene encodes a member of the Kruppel C2H2-type
            zinc-finger family of proteins. This encoded protein may function
            as a transcription factor that regulates the expression of GABA
            type-A receptors in the brain. Transcripts from this gene have been
            shown to form stable and abundant circular RNAs. Elevated
            expression of this gene has been observed in gastric cancer and the
            encoded protein may stimulate migration and invasion of human
            gastric cancer cells. [provided by RefSeq, Oct 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.255355.1,
                                           SRR18074968.3891206.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..321
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     Protein         1..321
                     /product="zinc finger protein with KRAB and SCAN domains 1
                     isoform d"
                     /note="zinc finger protein 36 (KOX 18); zinc finger
                     protein 139"
                     /calculated_mol_wt=36030
     Region          1..51
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P17029.3)"
     Site            13
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P17029.3)"
     Region          52..162
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Site            208
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P17029.3)"
     Region          227..262
                     /region_name="KRAB_A-box"
                     /note="KRAB (Kruppel-associated box) domain -A box;
                     cd07765"
                     /db_xref="CDD:143639"
     CDS             1..321
                     /gene="ZKSCAN1"
                     /gene_synonym="KOX18; PHZ-37; ZNF139; ZNF36; ZSCAN33"
                     /coded_by="NM_001346579.2:220..1185"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="GeneID:7586"
                     /db_xref="HGNC:HGNC:13101"
                     /db_xref="MIM:601260"
ORIGIN      
        1 mmtaesreat glspqaaqek dgivivkvee edeedhmwgq dstlqdtppp dpeifrqrfr
       61 rfcyqntfgp realsrlkel chqwlrpein tkeqilellv leqflsilpk elqvwlqeyr
      121 pdsgeeavtl ledleldlsg qqvpgqvhgp emlargmvpl dpvqesssfd lhheatqshf
      181 khssrkprll qsralpaahi papphegspr dqamasalft adsqamvkie dmavslilee
      241 wgcqnlarrn lsrdnrqeny gsafpqanvf aafqhaahvf cfleekghvr schapeacpa
      301 cskgshglvt lcwpadgskn r
//
LOCUS       NP_001401096             766 aa            linear   PRI 12-FEB-2023
DEFINITION  integrin beta-7 isoform c precursor [Homo sapiens].
ACCESSION   NP_001401096
VERSION     NP_001401096.1
DBSOURCE    REFSEQ: accession NM_001414167.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 766)
  AUTHORS   Roy Choudhury S, Byrum SD, Alkam D, Ashby C, Zhan F, Tackett AJ and
            Van Rhee F.
  TITLE     Expression of integrin beta-7 is epigenetically enhanced in
            multiple myeloma subgroups with high-risk cytogenetics
  JOURNAL   Clin Epigenetics 15 (1), 18 (2023)
   PUBMED   36737807
  REMARK    GeneRIF: Expression of integrin beta-7 is epigenetically enhanced
            in multiple myeloma subgroups with high-risk cytogenetics.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 766)
  AUTHORS   Xu T, Liu J, Xia Y, Wang Z, Li X and Gao Q.
  TITLE     Integrated analysis reveals the participation of IL4I1, ITGB7, and
            FUT7 in reshaping the TNBC immune microenvironment by targeting
            glycolysis
  JOURNAL   Ann Med 53 (1), 916-928 (2021)
   PUBMED   34134578
  REMARK    GeneRIF: Integrated analysis reveals the participation of IL4I1,
            ITGB7, and FUT7 in reshaping the TNBC immune microenvironment by
            targeting glycolysis.
REFERENCE   3  (residues 1 to 766)
  AUTHORS   Hosen N, Yoshihara S, Takamatsu H, Ri M, Nagata Y, Kosugi H,
            Shimomura Y, Hanamura I, Fuji S, Minauchi K, Kuroda J, Suzuki R,
            Nishimura N, Uoshima N, Nakamae H, Kawano Y, Mizuno I, Gomyo H,
            Suzuki K, Ozaki S, Nakamura S, Imai Y, Kizaki M, Negoro E, Handa H
            and Iida S.
  TITLE     Expression of activated integrin beta7 in multiple myeloma patients
  JOURNAL   Int J Hematol 114 (1), 3-7 (2021)
   PUBMED   33999338
  REMARK    GeneRIF: Expression of activated integrin beta7 in multiple myeloma
            patients.
REFERENCE   4  (residues 1 to 766)
  AUTHORS   Mora JR, Bono MR, Manjunath N, Weninger W, Cavanagh LL, Rosemblatt
            M and Von Andrian UH.
  TITLE     Selective imprinting of gut-homing T cells by Peyer's patch
            dendritic cells
  JOURNAL   Nature 424 (6944), 88-93 (2003)
   PUBMED   12840763
REFERENCE   5  (residues 1 to 766)
  AUTHORS   Erle DJ, Brown T, Christian D and Aris R.
  TITLE     Lung epithelial lining fluid T cell subsets defined by distinct
            patterns of beta 7 and beta 1 integrin expression
  JOURNAL   Am J Respir Cell Mol Biol 10 (3), 237-244 (1994)
   PUBMED   7509610
REFERENCE   6  (residues 1 to 766)
  AUTHORS   Jiang WM, Jenkins D, Yuan Q, Leung E, Choo KH, Watson JD and
            Krissansen GW.
  TITLE     The gene organization of the human beta 7 subunit, the common beta
            subunit of the leukocyte integrins HML-1 and LPAM-1
  JOURNAL   Int Immunol 4 (9), 1031-1040 (1992)
   PUBMED   1382574
REFERENCE   7  (residues 1 to 766)
  AUTHORS   Ruegg C, Postigo AA, Sikorski EE, Butcher EC, Pytela R and Erle DJ.
  TITLE     Role of integrin alpha 4 beta 7/alpha 4 beta P in lymphocyte
            adherence to fibronectin and VCAM-1 and in homotypic cell
            clustering
  JOURNAL   J Cell Biol 117 (1), 179-189 (1992)
   PUBMED   1372909
REFERENCE   8  (residues 1 to 766)
  AUTHORS   Parker CM, Cepek KL, Russell GJ, Shaw SK, Posnett DN, Schwarting R
            and Brenner MB.
  TITLE     A family of beta 7 integrins on human mucosal lymphocytes
  JOURNAL   Proc Natl Acad Sci U S A 89 (5), 1924-1928 (1992)
   PUBMED   1542691
REFERENCE   9  (residues 1 to 766)
  AUTHORS   Baker E, Sutherland GR, Jiang WM, Yuan Q, Leung E, Watson JD and
            Krissansen GW.
  TITLE     Mapping of the human integrin beta 7 gene (ITG beta 7) to 12q13.13
            by non-isotopic in situ hybridization
  JOURNAL   Mamm Genome 2 (4), 272-273 (1992)
   PUBMED   1543919
REFERENCE   10 (residues 1 to 766)
  AUTHORS   Erle DJ, Ruegg C, Sheppard D and Pytela R.
  TITLE     Complete amino acid sequence of an integrin beta subunit (beta 7)
            identified in leukocytes
  JOURNAL   J Biol Chem 266 (17), 11009-11016 (1991)
   PUBMED   2040616
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073573.27.
            
            Summary: This gene encodes a protein that is a member of the
            integrin superfamily. Members of this family are adhesion receptors
            that function in signaling from the extracellular matrix to the
            cell. Integrins are heterodimeric integral membrane proteins
            composed of an alpha chain and a beta chain. The encoded protein
            forms dimers with an alpha4 chain or an alphaE chain and plays a
            role in leukocyte adhesion. Dimerization with alpha4 forms a homing
            receptor for migration of lymphocytes to the intestinal mucosa and
            Peyer's patches. Dimerization with alphaE permits binding to the
            ligand epithelial cadherin, a calcium-dependent adhesion molecule.
            Alternate splicing results in multiple transcript variants.
            Additional alternatively spliced transcript variants of this gene
            have been described, but their full-length nature is not known.
            [provided by RefSeq, Sep 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1260474.1,
                                           SRR14038193.2137214.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..766
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     Protein         1..766
                     /product="integrin beta-7 isoform c precursor"
                     /note="integrin beta-7; integrin beta 7 subunit; gut
                     homing receptor beta subunit"
                     /calculated_mol_wt=81609
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2041
     Region          50..444
                     /region_name="INB"
                     /note="Integrin beta subunits (N-terminal portion of
                     extracellular region); smart00187"
                     /db_xref="CDD:197563"
     Region          444..474
                     /region_name="I-EGF_1"
                     /note="Integrin beta epidermal growth factor like domain
                     1; pfam18372"
                     /db_xref="CDD:436446"
     Region          613..685
                     /region_name="Integrin_B_tail"
                     /note="Integrin beta tail domain; pfam07965"
                     /db_xref="CDD:429757"
     Region          715..758
                     /region_name="Integrin_b_cyt"
                     /note="Integrin beta cytoplasmic domain; pfam08725"
                     /db_xref="CDD:430176"
     CDS             1..766
                     /gene="ITGB7"
                     /coded_by="NM_001414167.1:11..2311"
                     /note="isoform c precursor is encoded by transcript
                     variant 14"
                     /db_xref="GeneID:3695"
                     /db_xref="HGNC:HGNC:6162"
                     /db_xref="MIM:147559"
ORIGIN      
        1 mvalpmvlvl llvlsrgese ldakipstgd atewrnphls mlgscqpaps cqkcilshps
       61 cawckqlnft asgeaearrc arreellarg cpleeleepr gqqevlqdqp lsqgargega
      121 tqlapqrvrv tlrpgepqql qvrflraegy pvdlyylmdl sysmkddler vrqlghallv
      181 rlqevthsvr igfgsfvdkt vlpfvstvps klrhpcptrl ercqspfsfh hvlsltgdaq
      241 aferevgrqs vsgnldspeg gfdailqaal cqeqigwrnv srllvftsdd tfhtagdgkl
      301 ggifmpsdgh chldsnglys rstefelskl ipksavgels edssnvvqli mdaynslsst
      361 vtlehsslpp gvhisyesqc egpekregka edrgqcnhvr inqtvtfwvs lqathclpep
      421 hllrlralgf seelivelht lcdcncsdtq pqaphcsdgq ghlqcgvcsc apgrlgrlce
      481 csvaelsspd lesgcrapng tgplcsgkgh cqcgrcscsg qssghlcecd dascerhegi
      541 lcggfgrcqc gvchchanrt gracecsgdm dscispeggl csghgrckcn rcqcldgyyg
      601 alcdqcpgck tpcerhrdca ecgafrtgpl atncstacah tnvtlalapi lddgwckert
      661 ldnqlffflv eddargtvvl rvrpqekgad htqaivlgcv ggivavglgl vlayrlsvei
      721 ydrreysrfe keqqqlnwkq dsnplyksai tttinprfqe adsptl
//
LOCUS       NP_857634                170 aa            linear   PRI 12-FEB-2023
DEFINITION  peroxiredoxin-5, mitochondrial isoform b precursor [Homo sapiens].
ACCESSION   NP_857634
VERSION     NP_857634.2
DBSOURCE    REFSEQ: accession NM_181651.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 170)
  AUTHORS   Lee MK, Zhang X, Kim HJ and Hwang YS.
  TITLE     Peroxiredoxin 5 is involved in cancer cell invasion and tumor
            growth of oral squamous cell carcinoma
  JOURNAL   Oral Dis 29 (2), 423-435 (2023)
   PUBMED   33969595
  REMARK    GeneRIF: Peroxiredoxin 5 is involved in cancer cell invasion and
            tumor growth of oral squamous cell carcinoma.
REFERENCE   2  (residues 1 to 170)
  AUTHORS   Sun HN, Guo XY, Xie DP, Wang XM, Ren CX, Han YH, Yu NN, Huang YL
            and Kwon T.
  TITLE     Knockdown of Peroxiredoxin V increased the cytotoxicity of
            non-thermal plasma-treated culture medium to A549 cells
  JOURNAL   Aging (Albany NY) 14 (9), 4000-4013 (2022)
   PUBMED   35546738
  REMARK    GeneRIF: Knockdown of Peroxiredoxin V increased the cytotoxicity of
            non-thermal plasma-treated culture medium to A549 cells.
REFERENCE   3  (residues 1 to 170)
  AUTHORS   Agborbesong E, Zhou JX, Li LX, Calvet JP and Li X.
  TITLE     Antioxidant enzyme peroxiredoxin 5 regulates cyst growth and
            ciliogenesis via modulating Plk1 stability
  JOURNAL   FASEB J 36 (1), e22089 (2022)
   PUBMED   34888938
  REMARK    GeneRIF: Antioxidant enzyme peroxiredoxin 5 regulates cyst growth
            and ciliogenesis via modulating Plk1 stability.
REFERENCE   4  (residues 1 to 170)
  AUTHORS   Knoops B, Goemaere J, Van der Eecken V and Declercq JP.
  TITLE     Peroxiredoxin 5: structure, mechanism, and function of the
            mammalian atypical 2-Cys peroxiredoxin
  JOURNAL   Antioxid Redox Signal 15 (3), 817-829 (2011)
   PUBMED   20977338
  REMARK    Review article
REFERENCE   5  (residues 1 to 170)
  AUTHORS   Nguyen-Nhu NT, Berck J, Clippe A, Duconseille E, Cherif H, Boone C,
            Van der Eecken V, Bernard A, Banmeyer I and Knoops B.
  TITLE     Human peroxiredoxin 5 gene organization, initial characterization
            of its promoter and identification of alternative forms of mRNA
  JOURNAL   Biochim Biophys Acta 1769 (7-8), 472-483 (2007)
   PUBMED   17628720
  REMARK    GeneRIF: we present new alternative splicing variants encoded
            specifically by human PRDX5 gene. The characterization of human
            PRDX5 gene revealed complexity of its regulation & high variability
            of sequences that might be associated with pathological situations.
REFERENCE   6  (residues 1 to 170)
  AUTHORS   Seo MS, Kang SW, Kim K, Baines IC, Lee TH and Rhee SG.
  TITLE     Identification of a new type of mammalian peroxiredoxin that forms
            an intramolecular disulfide as a reaction intermediate
  JOURNAL   J Biol Chem 275 (27), 20346-20354 (2000)
   PUBMED   10751410
REFERENCE   7  (residues 1 to 170)
  AUTHORS   Knoops B, Clippe A, Bogard C, Arsalane K, Wattiez R, Hermans C,
            Duconseille E, Falmagne P and Bernard A.
  TITLE     Cloning and characterization of AOEB166, a novel mammalian
            antioxidant enzyme of the peroxiredoxin family
  JOURNAL   J Biol Chem 274 (43), 30451-30458 (1999)
   PUBMED   10521424
REFERENCE   8  (residues 1 to 170)
  AUTHORS   Yamashita H, Avraham S, Jiang S, London R, Van Veldhoven PP,
            Subramani S, Rogers RA and Avraham H.
  TITLE     Characterization of human and murine PMP20 peroxisomal proteins
            that exhibit antioxidant activity in vitro
  JOURNAL   J Biol Chem 274 (42), 29897-29904 (1999)
   PUBMED   10514471
REFERENCE   9  (residues 1 to 170)
  AUTHORS   Wattiez R, Hermans C, Bernard A, Lesur O and Falmagne P.
  TITLE     Human bronchoalveolar lavage fluid: two-dimensional gel
            electrophoresis, amino acid microsequencing and identification of
            major proteins
  JOURNAL   Electrophoresis 20 (7), 1634-1645 (1999)
   PUBMED   10424490
REFERENCE   10 (residues 1 to 170)
  AUTHORS   Kropotov A, Sedova V, Ivanov V, Sazeeva N, Tomilin A, Krutilina R,
            Oei SL, Griesenbeck J, Buchlow G and Tomilin N.
  TITLE     A novel human DNA-binding protein with sequence similarity to a
            subfamily of redox proteins which is able to repress
            RNA-polymerase-III-driven transcription of the Alu-family
            retroposons in vitro
  JOURNAL   Eur J Biochem 260 (2), 336-346 (1999)
   PUBMED   10095767
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001453.6 and AP003774.4.
            On May 31, 2019 this sequence version replaced NP_857634.1.
            
            Summary: This gene encodes a member of the peroxiredoxin family of
            antioxidant enzymes, which reduce hydrogen peroxide and alkyl
            hydroperoxides. The encoded protein interacts with peroxisome
            receptor 1 and plays an antioxidant protective role in different
            tissues under normal conditions and during inflammatory processes.
            The use of alternate transcription start sites is thought to result
            in transcript variants that use different in-frame translational
            start codons to generate isoforms that are targeted to the
            mitochondrion (isoform L) or peroxisome/cytoplasm (isoform S).
            Multiple related pseudogenes have been defined for this gene.
            [provided by RefSeq, Nov 2017].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (b) is shorter
            than isoform L.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.488446.1,
                                           SRR1163655.186772.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..170
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     Protein         1..170
                     /product="peroxiredoxin-5, mitochondrial isoform b
                     precursor"
                     /EC_number="1.11.1.24"
                     /note="antioxidant enzyme B166; thioredoxin peroxidase
                     PMP20; peroxisomal antioxidant enzyme; TPx type VI; liver
                     tissue 2D-page spot 71B; Alu co-repressor 1; epididymis
                     secretory protein Li 55; peroxiredoxin-5, mitochondrial;
                     peroxiredoxin V; thioredoxin reductase;
                     thioredoxin-dependent peroxiredoxin 5"
                     /calculated_mol_wt=17323
     Region          1..170
                     /region_name="alternative start site"
                     /note="cytoplasmic/peroxisomal protein"
     Region          58..168
                     /region_name="Thioredoxin_like"
                     /note="Protein Disulfide Oxidoreductases and Other
                     Proteins with a Thioredoxin fold; cl00388"
                     /db_xref="CDD:444880"
     CDS             1..170
                     /gene="PRDX5"
                     /gene_synonym="ACR1; AOEB166; B166; HEL-S-55; PLP; PMP20;
                     PRDX6; prx-V; PRXV; SBBI10"
                     /coded_by="NM_181651.3:96..608"
                     /note="isoform b precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS8070.1"
                     /db_xref="GeneID:25824"
                     /db_xref="HGNC:HGNC:9355"
                     /db_xref="MIM:606583"
ORIGIN      
        1 mglagvcalr rsagyilvgg aggqsaaaaa rrysegewas ggvrsfsraa aamapikvgd
       61 aipavevfeg epgnkvnlae lfkgkkgvlf gvpgaftpgc skvrlladpt gafgketdll
      121 lddslvsifg nrrlkrfsmv vqdgivkaln vepdgtgltc slapniisql
//
LOCUS       NP_001386786             488 aa            linear   PRI 12-FEB-2023
DEFINITION  calcium/calmodulin-dependent protein kinase type II subunit delta
            isoform 37 [Homo sapiens].
ACCESSION   NP_001386786
VERSION     NP_001386786.1
DBSOURCE    REFSEQ: accession NM_001399857.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 488)
  AUTHORS   Hsieh CC, Su YC, Jiang KY, Ito T, Li TW, Kaku-Ito Y, Cheng ST, Chen
            LT, Hwang DY and Shen CH.
  TITLE     TRPM1 promotes tumor progression in acral melanoma by activating
            the Ca2+/CaMKIIdelta/AKT pathway
  JOURNAL   J Adv Res 43, 45-57 (2023)
   PUBMED   36585114
  REMARK    GeneRIF: TRPM1 promotes tumor progression in acral melanoma by
            activating the Ca[2+]/CaMKIIdelta/AKT pathway.
REFERENCE   2  (residues 1 to 488)
  AUTHORS   Zhang X, Zai L, Tao Z, Wu D, Lin M and Wan J.
  TITLE     miR-145-5p affects autophagy by targeting CaMKIIdelta in
            atherosclerosis
  JOURNAL   Int J Cardiol 360, 68-75 (2022)
   PUBMED   35597494
  REMARK    GeneRIF: miR-145-5p affects autophagy by targeting CaMKIIdelta in
            atherosclerosis.
REFERENCE   3  (residues 1 to 488)
  AUTHORS   Tian T, Yao D, Zheng L, Zhou Z, Duan Y, Liu B, Wang P and Li Y.
  TITLE     Sphingosine kinase 1 regulates HMGB1 translocation by directly
            interacting with calcium/calmodulin protein kinase II-delta in
            sepsis-associated liver injury
  JOURNAL   Cell Death Dis 11 (12), 1037 (2020)
   PUBMED   33281190
  REMARK    GeneRIF: Sphingosine kinase 1 regulates HMGB1 translocation by
            directly interacting with calcium/calmodulin protein kinase
            II-delta in sepsis-associated liver injury.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 488)
  AUTHORS   Saddouk FZ, Ginnan R and Singer HA.
  TITLE     Ca2+/Calmodulin-Dependent Protein Kinase II in Vascular Smooth
            Muscle
  JOURNAL   Adv Pharmacol 78, 171-202 (2017)
   PUBMED   28212797
  REMARK    Review article
REFERENCE   5  (residues 1 to 488)
  AUTHORS   Bhattacharyya M, Stratton MM, Going CC, McSpadden ED, Huang Y, Susa
            AC, Elleman A, Cao YM, Pappireddi N, Burkhardt P, Gee CL, Barros T,
            Schulman H, Williams ER and Kuriyan J.
  TITLE     Molecular mechanism of activation-triggered subunit exchange in
            Ca(2+)/calmodulin-dependent protein kinase II
  JOURNAL   Elife 5, e13405 (2016)
   PUBMED   26949248
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 488)
  AUTHORS   Hudmon A and Schulman H.
  TITLE     Neuronal CA2+/calmodulin-dependent protein kinase II: the role of
            structure and autoregulation in cellular function
  JOURNAL   Annu Rev Biochem 71, 473-510 (2002)
   PUBMED   12045104
  REMARK    Review article
REFERENCE   7  (residues 1 to 488)
  AUTHORS   Soderling TR and Stull JT.
  TITLE     Structure and regulation of calcium/calmodulin-dependent protein
            kinases
  JOURNAL   Chem Rev 101 (8), 2341-2352 (2001)
   PUBMED   11749376
  REMARK    Review article
REFERENCE   8  (residues 1 to 488)
  AUTHORS   Williams CL, Phelps SH and Porter RA.
  TITLE     Expression of Ca2+/calmodulin-dependent protein kinase types II and
            IV, and reduced DNA synthesis due to the Ca2+/calmodulin-dependent
            protein kinase inhibitor KN-62
            (1-[N,O-bis(5-isoquinolinesulfonyl)-N-methyl-L-tyrosyl]-4-phenyl
            piperazine) in small cell lung carcinoma
  JOURNAL   Biochem Pharmacol 51 (5), 707-715 (1996)
   PUBMED   8615909
REFERENCE   9  (residues 1 to 488)
  AUTHORS   Andersen DL, Tannenberg AE, Burke CJ and Dodd PR.
  TITLE     Developmental rearrangements of cortical glutamate-NMDA receptor
            binding sites in late human gestation
  JOURNAL   Brain Res Dev Brain Res 88 (2), 178-185 (1995)
   PUBMED   8665664
REFERENCE   10 (residues 1 to 488)
  AUTHORS   de Groot RP, den Hertog J, Vandenheede JR, Goris J and
            Sassone-Corsi P.
  TITLE     Multiple and cooperative phosphorylation events regulate the CREM
            activator function
  JOURNAL   EMBO J 12 (10), 3903-3911 (1993)
   PUBMED   8404858
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004168.2, AC004056.1 and
            AC093900.3.
            
            Summary: The product of this gene belongs to the serine/threonine
            protein kinase family and to the Ca(2+)/calmodulin-dependent
            protein kinase subfamily. Calcium signaling is crucial for several
            aspects of plasticity at glutamatergic synapses. In mammalian
            cells, the enzyme is composed of four different chains: alpha,
            beta, gamma, and delta. The product of this gene is a delta chain.
            Alternative splicing results in multiple transcript variants
            encoding distinct isoforms. Distinct isoforms of this chain have
            different expression patterns.[provided by RefSeq, Nov 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..488
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q26"
     Protein         1..488
                     /product="calcium/calmodulin-dependent protein kinase type
                     II subunit delta isoform 37"
                     /EC_number="2.7.11.17"
                     /note="calcium/calmodulin-dependent protein kinase (CaM
                     kinase) II delta; calcium/calmodulin-dependent protein
                     kinase type II delta chain; CaM-kinase II delta chain; CaM
                     kinase II delta subunit; CaMK-II delta subunit;
                     calcium/calmodulin-dependent protein kinase type II
                     subunit delta"
                     /calculated_mol_wt=55162
     Region          12..303
                     /region_name="STKc_CaMKII"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Calcium/calmodulin-dependent protein kinase Type II;
                     cd14086"
                     /db_xref="CDD:270988"
     Site            order(20..24,28,41,43,74,90..93,97,99,135..136,138,
                     140..141,143,156..157,160,175..179,181)
                     /site_type="active"
                     /db_xref="CDD:270988"
     Site            order(20..23,28,41,43,74,90..93,97,140..141,143,156..157)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270988"
     Site            order(24,97,99,135..136,138,140,160,175..179,181)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270988"
     Site            order(156..166,169..179)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270988"
     Site            order(294,296..303)
                     /site_type="other"
                     /note="CaM binding site [polypeptide binding]"
                     /db_xref="CDD:270988"
     Region          356..483
                     /region_name="CaMKII_AD"
                     /note="Calcium/calmodulin dependent protein kinase II
                     association domain; pfam08332"
                     /db_xref="CDD:285524"
     CDS             1..488
                     /gene="CAMK2D"
                     /gene_synonym="CAMKD"
                     /coded_by="NM_001399857.1:671..2137"
                     /note="isoform 37 is encoded by transcript variant 40"
                     /db_xref="GeneID:817"
                     /db_xref="HGNC:HGNC:1462"
                     /db_xref="MIM:607708"
ORIGIN      
        1 mastttctrf tdeyqlfeel gkgafsvvrr cmkiptgqey aakiintkkl sardhqkler
       61 earicrllkh pnivrlhdsi seegfhylvf dlvtggelfe divareyyse adashciqqi
      121 lesvnhchln givhrdlkpe nlllaskskg aavkladfgl aievqgdqqa wfgfagtpgy
      181 lspevlrkdp ygkpvdmwac gvilyillvg yppfwdedqh rlyqqikaga ydfpspewdt
      241 vtpeakdlin kmltinpakr itasealkhp wicqrstvas mmhrqetvdc lkkfnarrkl
      301 kgailttmla trnfsaksll kkpdgvkkrk ssssvqmmes tessnttied edvkarkqei
      361 ikvteqliea inngdfeayt kicdpgltaf epealgnlve gmdfhrfyfe nalsksnkpi
      421 htiilnphvh lvgddaacia yirltqymdg sgmpktmqse etrvwhrrdg kwqnvhfhrs
      481 gsptvpin
//
LOCUS       NP_001295144             232 aa            linear   PRI 14-MAR-2023
DEFINITION  zinc finger protein 346 isoform d [Homo sapiens].
ACCESSION   NP_001295144 XP_005265922
VERSION     NP_001295144.1
DBSOURCE    REFSEQ: accession NM_001308215.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 232)
  AUTHORS   Peng Q, Li J, Wu Q, Wang P, Kang Z, Deng Y, Xiao Y, Zheng P, Ge F
            and Chen Y.
  TITLE     ZNF385A and ZNF346 Serve as Prognostic Biomarkers Associated with
            an Inflamed Immunosuppressive Tumor Microenvironment in
            Hepatocellular Carcinoma
  JOURNAL   Int J Mol Sci 24 (4), 3155 (2023)
   PUBMED   36834567
  REMARK    GeneRIF: ZNF385A and ZNF346 Serve as Prognostic Biomarkers
            Associated with an Inflamed Immunosuppressive Tumor
            Microenvironment in Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 232)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 232)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   4  (residues 1 to 232)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 232)
  AUTHORS   Mallick S and D'Mello SR.
  TITLE     JAZ (Znf346), a SIRT1-interacting protein, protects neurons by
            stimulating p21 (WAF/CIP1) protein expression
  JOURNAL   J Biol Chem 289 (51), 35409-35420 (2014)
   PUBMED   25331946
REFERENCE   6  (residues 1 to 232)
  AUTHORS   Schmitt J, Heisel S, Keller A, Leidinger P, Ludwig N, Habel N,
            Furtwangler R, Nourkami-Tutdibi N, Wegert J, Grundy P, Gessler M,
            Graf N, Lenhof HP and Meese E.
  TITLE     Multicenter study identified molecular blood-born protein
            signatures for Wilms Tumor
  JOURNAL   Int J Cancer 131 (3), 673-682 (2012)
   PUBMED   21913182
REFERENCE   7  (residues 1 to 232)
  AUTHORS   Yang M, Wu S, Jia J and May WS.
  TITLE     JAZ mediates G1 cell cycle arrest by interacting with and
            inhibiting E2F1
  JOURNAL   Cell Cycle 10 (14), 2390-2399 (2011)
   PUBMED   21715977
  REMARK    GeneRIF: JAZ directly binds E2F1 in vitro in a dsRNA-independent
            manner, and JAZ's dsRNA binding ZF domains, which are necessary for
            localizing JAZ to the nucleus, are required for repression of
            transcriptional activity in vivo.
REFERENCE   8  (residues 1 to 232)
  AUTHORS   Kijanka G, Hector S, Kay EW, Murray F, Cummins R, Murphy D,
            MacCraith BD, Prehn JH and Kenny D.
  TITLE     Human IgG antibody profiles differentiate between symptomatic
            patients with and without colorectal cancer
  JOURNAL   Gut 59 (1), 69-78 (2010)
   PUBMED   19828471
REFERENCE   9  (residues 1 to 232)
  AUTHORS   Chen T, Brownawell AM and Macara IG.
  TITLE     Nucleocytoplasmic shuttling of JAZ, a new cargo protein for
            exportin-5
  JOURNAL   Mol Cell Biol 24 (15), 6608-6619 (2004)
   PUBMED   15254228
  REMARK    GeneRIF: JAZ is exported by exportin-5 but translocates back into
            nuclei by a facilitated diffusion mechanism
REFERENCE   10 (residues 1 to 232)
  AUTHORS   Yang M, May WS and Ito T.
  TITLE     JAZ requires the double-stranded RNA-binding zinc finger motifs for
            nuclear localization
  JOURNAL   J Biol Chem 274 (39), 27399-27406 (1999)
   PUBMED   10488071
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA789054.1, BU860103.1,
            AC027317.6 and DB548047.1.
            On Apr 28, 2015 this sequence version replaced XP_005265922.1.
            
            Summary: The protein encoded by this gene is a nucleolar, zinc
            finger protein that preferentially binds to double-stranded (ds)
            RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies
            indicate that the zinc finger domains are not only essential for
            dsRNA binding, but are also required for its nucleolar
            localization. The encoded protein may be involved in cell growth
            and survival. It plays a role in protecting neurons by inhibiting
            cell cycle re-entry via stimulation of p21 gene expression.
            Alternative splicing of this gene results in multiple transcript
            variants. [provided by RefSeq, Apr 2015].
            
            Transcript Variant: This variant (4) lacks an alternate in-frame
            exon in the central coding region, compared to variant 1, resulting
            in an isoform (d) that is shorter than isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.79196.1,
                                           SRR1660809.186199.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..232
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.2"
     Protein         1..232
                     /product="zinc finger protein 346 isoform d"
                     /note="double-stranded RNA-binding zinc finger protein
                     JAZ; just another zinc finger protein"
                     /calculated_mol_wt=25621
     Region          71..104
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     Region          75..97
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Region          135..164
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     Region          136..158
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Site            order(143..145,147..148,152,157,184,187..191,193..194)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275371"
     Region          179..201
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     CDS             1..232
                     /gene="ZNF346"
                     /gene_synonym="JAZ; Zfp346"
                     /coded_by="NM_001308215.2:44..742"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="GeneID:23567"
                     /db_xref="HGNC:HGNC:16403"
                     /db_xref="MIM:605308"
ORIGIN      
        1 meypapatvq aadggaagpy sssellegqe pdgvrfdrer arrlweavsg aqpvgreeve
       61 hmiqknqclf tntqckvcca llisesqkla hyqskkhank vkrylaihgm etlkgetkkl
      121 dsdqkssrsk dknqccpicn mtfsspvvaq shylgkthak nlklkqqstk veagkgypck
      181 tckivlnsie qyqahvsgfk hknqspktva sslgqipmqr qpiqkdsttl ed
//
LOCUS       NP_001336473             441 aa            linear   PRI 14-MAR-2023
DEFINITION  GRAM domain-containing protein 2B isoform 9 [Homo sapiens].
ACCESSION   NP_001336473 XP_005272116
VERSION     NP_001336473.1
DBSOURCE    REFSEQ: accession NM_001349544.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 441)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 441)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 441)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (residues 1 to 441)
  AUTHORS   Besprozvannaya M, Dickson E, Li H, Ginburg KS, Bers DM, Auwerx J
            and Nunnari J.
  TITLE     GRAM domain proteins specialize functionally distinct ER-PM contact
            sites in human cells
  JOURNAL   Elife 7, e31019 (2018)
   PUBMED   29469807
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 441)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam
            S, MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 441)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   7  (residues 1 to 441)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   8  (residues 1 to 441)
  AUTHORS   Fong KW, Leung JW, Li Y, Wang W, Feng L, Ma W, Liu D, Songyang Z
            and Chen J.
  TITLE     MTR120/KIAA1383, a novel microtubule-associated protein, promotes
            microtubule stability and ensures cytokinesis
  JOURNAL   J Cell Sci 126 (Pt 3), 825-837 (2013)
   PUBMED   23264731
REFERENCE   9  (residues 1 to 441)
  AUTHORS   Grassi MA, Tikhomirov A, Ramalingam S, Below JE, Cox NJ and Nicolae
            DL.
  TITLE     Genome-wide meta-analysis for severe diabetic retinopathy
  JOURNAL   Hum Mol Genet 20 (12), 2472-2481 (2011)
   PUBMED   21441570
REFERENCE   10 (residues 1 to 441)
  AUTHORS   Cirulli ET, Kasperaviciute D, Attix DK, Need AC, Ge D, Gibson G and
            Goldstein DB.
  TITLE     Common genetic variation and performance on standardized cognitive
            tests
  JOURNAL   Eur J Hum Genet 18 (7), 815-820 (2010)
   PUBMED   20125193
  REMARK    Erratum:[Eur J Hum Genet. 2010 Jul;18(7):820]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CF994851.1, DB477009.1, BC008590.1, BP194080.1, CB306011.1 and
            AC093535.2.
            On Mar 18, 2017 this sequence version replaced XP_005272116.1.
            
            Transcript Variant: This variant (9) has multiple differences
            compared to variant 1. These differences result in a distinct 5'
            UTR and initiates translation initiation at an alternate start
            codon, compared to variant 1. The encoded isoform (9) has a
            distinct N-terminus and is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.158936.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..441
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.2"
     Protein         1..441
                     /product="GRAM domain-containing protein 2B isoform 9"
                     /note="hepatitis C virus nonstructural protein
                     3-transactivating protein 2; GRAM domain-containing
                     protein 3; HCV NS3-transactivated protein 2; GRAM domain
                     containing 3; GRAM domain-containing protein 2B"
                     /calculated_mol_wt=49553
     Region          130..222
                     /region_name="PH-GRAM_GRAMDC"
                     /note="GRAM domain-containing protein (GRAMDC) Pleckstrin
                     Homology-Glucosyltransferases, Rab-like GTPase activators
                     and Myotubularins (PH-GRAM) domain; cd13220"
                     /db_xref="CDD:275406"
     CDS             1..441
                     /gene="GRAMD2B"
                     /gene_synonym="GRAMD3; NS3TP2"
                     /coded_by="NM_001349544.2:218..1543"
                     /note="isoform 9 is encoded by transcript variant 9"
                     /db_xref="GeneID:65983"
                     /db_xref="HGNC:HGNC:24911"
                     /db_xref="MIM:620182"
ORIGIN      
        1 mwktqslrkc sgrgranlaq ptqrlrmvwr rkrkpagrqq pnplphlwrr tpqtrrksla
       61 yahifspnlc fiqdqeskss fdgaslasdk ndcktesknd pkterkksss ssqykanmhf
      121 hklflsvpte eplkqsftca lqkeilyqgk lfvsenwicf hskvfgkdtk isipafsvtl
      181 ikktktallv pnaliiatvt dryifvslls rdstykllks vcghlentsv gnspnpssae
      241 nsfradrpss lpldfndefs dldgvvqqrr qdmegysssg sqtpesensr vdfhatesqt
      301 vlnvskgeak ptradahvnr vpegkakslp vqglsetvgi lhkvksqkcp mlhhilifya
      361 ivvcaliist fymryrintl eeqlglltsi vdthnteqaa psglrsqvqf nvevlcqelt
      421 anivklekiq nnlqklleng d
//
LOCUS       NP_001341491             371 aa            linear   PRI 17-MAR-2023
DEFINITION  protein NDRG2 isoform a [Homo sapiens].
ACCESSION   NP_001341491
VERSION     NP_001341491.1
DBSOURCE    REFSEQ: accession NM_001354562.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 371)
  AUTHORS   Wang J, Yuan Y, Zhang K, Sun X, Bu X, Dong J, Wu Y, Tian H and Shen
            L.
  TITLE     [NDRG2 inhibits tumorigenesis of hepatocellular carcinoma by
            regulating metabolism of phospholipids and triglyceride: a
            metabonomic analysis]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 42 (12), 1765-1773 (2022)
   PUBMED   36651243
  REMARK    GeneRIF: [NDRG2 inhibits tumorigenesis of hepatocellular carcinoma
            by regulating metabolism of phospholipids and triglyceride: a
            metabonomic analysis].
REFERENCE   2  (residues 1 to 371)
  AUTHORS   Feng D, Zhou J, Liu H, Wu X, Li F, Zhao J, Zhang Y, Wang L, Chao M,
            Wang Q, Qin H, Ge S, Liu Q, Zhang J and Qu Y.
  TITLE     Astrocytic NDRG2-PPM1A interaction exacerbates blood-brain barrier
            disruption after subarachnoid hemorrhage
  JOURNAL   Sci Adv 8 (39), eabq2423 (2022)
   PUBMED   36179025
  REMARK    GeneRIF: Astrocytic NDRG2-PPM1A interaction exacerbates blood-brain
            barrier disruption after subarachnoid hemorrhage.
REFERENCE   3  (residues 1 to 371)
  AUTHORS   Lee KW, Lim S and Kim KD.
  TITLE     The Function of N-Myc Downstream-Regulated Gene 2 (NDRG2) as a
            Negative Regulator in Tumor Cell Metastasis
  JOURNAL   Int J Mol Sci 23 (16), 9365 (2022)
   PUBMED   36012631
  REMARK    GeneRIF: The Function of N-Myc Downstream-Regulated Gene 2 (NDRG2)
            as a Negative Regulator in Tumor Cell Metastasis.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 371)
  AUTHORS   Feng RB, Zhou QZ, Cheng R, Li P, Zhu ST, Min L and Zhang ST.
  TITLE     Expression and Significance of N-myc downstream regulated gene 2 in
            the process of Esophageal Squamous Cell Carcinogenesis
  JOURNAL   Bioengineered 13 (2), 3275-3283 (2022)
   PUBMED   35048779
  REMARK    GeneRIF: Expression and Significance of N-myc downstream regulated
            gene 2 in the process of Esophageal Squamous Cell Carcinogenesis.
REFERENCE   5  (residues 1 to 371)
  AUTHORS   Zhai Z, Mu T, Zhao L, Li Y, Zhu D and Pan Y.
  TITLE     MiR-181a-5p facilitates proliferation, invasion, and glycolysis of
            breast cancer through NDRG2-mediated activation of PTEN/AKT pathway
  JOURNAL   Bioengineered 13 (1), 83-95 (2022)
   PUBMED   34951340
  REMARK    GeneRIF: MiR-181a-5p facilitates proliferation, invasion, and
            glycolysis of breast cancer through NDRG2-mediated activation of
            PTEN/AKT pathway.
REFERENCE   6  (residues 1 to 371)
  AUTHORS   Deng Y, Yao L, Chau L, Ng SS, Peng Y, Liu X, Au WS, Wang J, Li F,
            Ji S, Han H, Nie X, Li Q, Kung HF, Leung SY and Lin MC.
  TITLE     N-Myc downstream-regulated gene 2 (NDRG2) inhibits glioblastoma
            cell proliferation
  JOURNAL   Int J Cancer 106 (3), 342-347 (2003)
   PUBMED   12845671
  REMARK    GeneRIF: Down-Regulation of N-Myc downstream-regulated gene 2 is
            associated with glioblastoma
            Erratum:[Int J Cancer. 2003 Oct 10;106(6):984]
REFERENCE   7  (residues 1 to 371)
  AUTHORS   Ohki T, Hongo S, Nakada N, Maeda A and Takeda M.
  TITLE     Inhibition of neurite outgrowth by reduced level of NDRG4 protein
            in antisense transfected PC12 cells
  JOURNAL   Brain Res Dev Brain Res 135 (1-2), 55-63 (2002)
   PUBMED   11978393
REFERENCE   8  (residues 1 to 371)
  AUTHORS   Qu X, Zhai Y, Wei H, Zhang C, Xing G, Yu Y and He F.
  TITLE     Characterization and expression of three novel
            differentiation-related genes belong to the human NDRG gene family
  JOURNAL   Mol Cell Biochem 229 (1-2), 35-44 (2002)
   PUBMED   11936845
  REMARK    GeneRIF: Cloning and expression of the gene; highly expressed in
            adult skeletal muscle and brain
REFERENCE   9  (residues 1 to 371)
  AUTHORS   Zhou RH, Kokame K, Tsukamoto Y, Yutani C, Kato H and Miyata T.
  TITLE     Characterization of the human NDRG gene family: a newly identified
            member, NDRG4, is specifically expressed in brain and heart
  JOURNAL   Genomics 73 (1), 86-97 (2001)
   PUBMED   11352569
REFERENCE   10 (residues 1 to 371)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161668.6.
            
            Summary: This gene is a member of the N-myc downregulated gene
            family which belongs to the alpha/beta hydrolase superfamily. The
            protein encoded by this gene is a cytoplasmic protein that may play
            a role in neurite outgrowth. This gene may be involved in
            glioblastoma carcinogenesis. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Aug 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.242181.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..371
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     Protein         1..371
                     /product="protein NDRG2 isoform a"
                     /note="cytoplasmic protein Ndr1; NDR1-related protein
                     NDR2; N-myc downstream regulator 2; syld709613 protein;
                     protein NDRG2; N-myc downstream-regulated gene 2 protein"
                     /calculated_mol_wt=40667
     Region          1..21
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            20
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     Region          40..318
                     /region_name="Ndr"
                     /note="Ndr family; pfam03096"
                     /db_xref="CDD:397285"
     Site            326
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            328
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            330
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            332
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9UN36.2)"
     Region          334..371
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            334
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            335
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QYG0; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            338
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            344
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            348
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            350
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QYG0; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            352
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QYG0; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            353
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QYG0; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            355
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QYG0; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            357
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9QYG0; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     Site            370
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QYG0; propagated from
                     UniProtKB/Swiss-Prot (Q9UN36.2)"
     CDS             1..371
                     /gene="NDRG2"
                     /gene_synonym="SYLD"
                     /coded_by="NM_001354562.2:119..1234"
                     /note="isoform a is encoded by transcript variant 20"
                     /db_xref="CCDS:CCDS9565.1"
                     /db_xref="GeneID:57447"
                     /db_xref="HGNC:HGNC:14460"
                     /db_xref="MIM:605272"
ORIGIN      
        1 maelqevqit eekpllpgqt peaakeaela arilldqgqt hsvetpygsv tftvygtpkp
       61 krpailtyhd vglnykscfq plfqfedmqe iiqnfvrvhv dapgmeegap vfplgyqyps
      121 ldqladmipc vlqylnfsti igvgvgagay ilaryalnhp dtveglvlin idpnakgwmd
      181 waahkltglt ssipemilgh lfsqeelsgn seliqkyrni ithapnldni elywnsynnr
      241 rdlnferggd itlrcpvmlv vgdqapheda vvecnskldp tqtsflkmad sggqpqltqp
      301 gklteafkyf lqgmgymass cmtrlsrsrt asltsaasvd gnrsrsrtls qssesgtlss
      361 gppghtmevs c
//
LOCUS       NP_001030337             251 aa            linear   PRI 19-MAR-2023
DEFINITION  vacuolar protein sorting-associated protein 26A isoform 2 [Homo
            sapiens].
ACCESSION   NP_001030337
VERSION     NP_001030337.1
DBSOURCE    REFSEQ: accession NM_001035260.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 251)
  AUTHORS   Hou J, Wu H, Xu B, Shang J, Xu X, Li G, Zhang H, Zhang W, Deng Y,
            Hong X, Hu T, Zhang M and Zhan Y.
  TITLE     The Prognostic Value and the Oncogenic and Immunological Roles of
            Vacuolar Protein Sorting Associated Protein 26 A in Pancreatic
            Adenocarcinoma
  JOURNAL   Int J Mol Sci 24 (4), 3486 (2023)
   PUBMED   36834898
  REMARK    GeneRIF: The Prognostic Value and the Oncogenic and Immunological
            Roles of Vacuolar Protein Sorting Associated Protein 26 A in
            Pancreatic Adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 251)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 251)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 251)
  AUTHORS   Choi SA, Kim YH, Park YH, Yang HJ, Jeong PS, Cha JJ, Yoon SB, Kim
            JS, Song BS, Lee JH, Sim BW, Huh JW, Song IS, Lee SR, Kim MK, Kim
            JM, Bae YS, Imakawa K, Kim SU and Chang KT.
  TITLE     Novel crosstalk between Vps26a and Nox4 signaling during
            neurogenesis
  JOURNAL   Cell Death Differ 26 (9), 1582-1599 (2019)
   PUBMED   30464227
  REMARK    GeneRIF: Novel crosstalk between Vps26a and Nox4 signaling during
            neurogenesis.
REFERENCE   5  (residues 1 to 251)
  AUTHORS   Seaman MN, Harbour ME, Tattersall D, Read E and Bright N.
  TITLE     Membrane recruitment of the cargo-selective retromer subcomplex is
            catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP
            TBC1D5
  JOURNAL   J Cell Sci 122 (Pt 14), 2371-2382 (2009)
   PUBMED   19531583
  REMARK    GeneRIF: Membrane recruitment of the cargo-selective retromer
            subcomplex VPS35/29/26 is catalysed by the small GTPase Rab7 and
            inhibited by the Rab-GAP TBC1D5.
REFERENCE   6  (residues 1 to 251)
  AUTHORS   Arighi CN, Hartnell LM, Aguilar RC, Haft CR and Bonifacino JS.
  TITLE     Role of the mammalian retromer in sorting of the cation-independent
            mannose 6-phosphate receptor
  JOURNAL   J Cell Biol 165 (1), 123-133 (2004)
   PUBMED   15078903
REFERENCE   7  (residues 1 to 251)
  AUTHORS   Seaman MN.
  TITLE     Cargo-selective endosomal sorting for retrieval to the Golgi
            requires retromer
  JOURNAL   J Cell Biol 165 (1), 111-122 (2004)
   PUBMED   15078902
REFERENCE   8  (residues 1 to 251)
  AUTHORS   Reddy JV and Seaman MN.
  TITLE     Vps26p, a component of retromer, directs the interactions of Vps35p
            in endosome-to-Golgi retrieval
  JOURNAL   Mol Biol Cell 12 (10), 3242-3256 (2001)
   PUBMED   11598206
REFERENCE   9  (residues 1 to 251)
  AUTHORS   Haft CR, de la Luz Sierra M, Bafford R, Lesniak MA, Barr VA and
            Taylor SI.
  TITLE     Human orthologs of yeast vacuolar protein sorting proteins Vps26,
            29, and 35: assembly into multimeric complexes
  JOURNAL   Mol Biol Cell 11 (12), 4105-4116 (2000)
   PUBMED   11102511
REFERENCE   10 (residues 1 to 251)
  AUTHORS   Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu
            BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ and Chen
            Z.
  TITLE     Identification of genes expressed in human CD34(+) hematopoietic
            stem/progenitor cells by expressed sequence tags and efficient
            full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 95 (14), 8175-8180 (1998)
   PUBMED   9653160
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA498726.1, AF054179.1,
            BQ068008.1, AL596223.3 and BX647725.1.
            
            Summary: This gene belongs to a group of vacuolar protein sorting
            (VPS) genes. The encoded protein is a component of a large
            multimeric complex, termed the retromer complex, involved in
            retrograde transport of proteins from endosomes to the trans-Golgi
            network. The close structural similarity between the yeast and
            human proteins that make up this complex suggests a similarity in
            function. Expression studies in yeast and mammalian cells indicate
            that this protein interacts directly with VPS35, which serves as
            the core of the retromer complex. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an exon in the 3' coding
            region which results in a frameshift and early translation
            termination, compared to variant 1. The encoded isoform (2) has a
            shorter and distinct C-terminus, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.77694.1,
                                           SRR1660809.182218.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..251
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     Protein         1..251
                     /product="vacuolar protein sorting-associated protein 26A
                     isoform 2"
                     /note="vacuolar protein sorting-associated protein 26A;
                     vesicle protein sorting 26A; vacuolar protein sorting 26
                     homolog A; VPS26 retromer complex comonent A"
                     /calculated_mol_wt=28807
     Region          8..243
                     /region_name="Vps26"
                     /note="Vacuolar protein sorting-associated protein 26;
                     pfam03643"
                     /db_xref="CDD:397622"
     CDS             1..251
                     /gene="VPS26A"
                     /gene_synonym="HB58; Hbeta58; PEP8A; VPS26"
                     /coded_by="NM_001035260.3:101..856"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS41536.1"
                     /db_xref="GeneID:9559"
                     /db_xref="HGNC:HGNC:12711"
                     /db_xref="MIM:605506"
ORIGIN      
        1 msflggffgp iceidivlnd getrkmaemk tedgkvekhy lfydgesvsg kvnlafkqpg
       61 krlehqgiri efvgqielfn dksnthefvn lvkelalpge ltqsrsydfe fmqvekpyes
      121 yiganvrlry flkvtivrrl tdlvkeydli vhqlatypdv nnsikmevgi edclhiefey
      181 nkskyhlkdv ivgkiyfllv rikiqhmelq likkeitgig psttteteti akyeimdgap
      241 vkgdnfmeks s
//
LOCUS       XP_016856320            2640 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 24 isoform X1 [Homo sapiens].
ACCESSION   XP_016856320
VERSION     XP_016856320.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017000831.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2640
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..2640
                     /product="ubiquitin carboxyl-terminal hydrolase 24 isoform
                     X1"
                     /calculated_mol_wt=296388
     Region          6..42
                     /region_name="UBA_UBP24"
                     /note="UBA domain found in ubiquitin carboxyl-terminal
                     hydrolase 24 (UBP24) and similar proteins; cd14286"
                     /db_xref="CDD:270472"
     Region          975..1053
                     /region_name="Ubl_UBP24"
                     /note="ubiquitin-like (Ubl) domain found in ubiquitin
                     carboxyl-terminal hydrolase 24 (UBP24) and similar
                     proteins; cd17065"
                     /db_xref="CDD:340585"
     Region          1707..2064
                     /region_name="peptidase_C19C"
                     /note="A subfamily of Peptidase C19. Peptidase C19
                     contains ubiquitinyl hydrolases. They are intracellular
                     peptidases that remove ubiquitin molecules from
                     polyubiquinated peptides by cleavage of isopeptide bonds.
                     They hydrolyze bonds involving the carboxyl...; cd02659"
                     /db_xref="CDD:239124"
     Site            order(1713,1718,1990,2011)
                     /site_type="active"
                     /db_xref="CDD:239124"
     CDS             1..2640
                     /gene="USP24"
                     /coded_by="XM_017000831.2:252..8174"
                     /db_xref="GeneID:23358"
                     /db_xref="HGNC:HGNC:12623"
                     /db_xref="MIM:610569"
ORIGIN      
        1 meseeeqhmt tllcmgfsdp atirkalrla kndineaval ltnerpgldy ggyepmdsgg
       61 gpspgpgggp rgdgggdggg ggpsrggstg ggggfdpppa yhevvdaekn dengncsgeg
      121 iefpttnlye lesrvltdhw sipykreesl gkcllastyl arlglsesde ncrrfmdrcm
      181 peafkkllts savhkwgtei hegiynmlml lielvaerik qdpiptgllg vltmafnpdn
      241 eyhfknrmkv sqrnwaevfg egnmfavspv stfqkephgw vvdlvnkfge lggfaaiqak
      301 lhsedielga vsaliqplgv caeylnssvv qpmldpvilt tiqdvrsvee kdlkdkrlvs
      361 ipellsavkl lcmrfqpdlv tivddlrldi llrmlksphf sakmnslkev tkliedstls
      421 ksvknaidtd rlldwlvens vlsialegni dqaqycdrik giiellgskl sldeltkiwk
      481 iqsgqsstvi enihtiiaaa avkfnsdqln hlfvliqksw etesdrvrqk llsligrigr
      541 earfettsgk vldvlwelah lptlpssliq qaleehltil sdayavkeai krsyiikcie
      601 dikrpgewsg leknkkdgfk qggltgdyvs lpgytetkqr ssqlnnpqfv wvvpalrqlh
      661 eitrsfikqt yqkqdksiiq dlkknfeivk lvtgsliach rlaaavagpg glsgstlvdg
      721 rytyreylea hlkflafflq eatlylgwnr akeiweclvt gqdvceldre mcfewftkgq
      781 hdlesdvqqq lfkekilkle syeitmngfn lfktffenvn lcdhrlkrqg aqlyveklel
      841 igmdfiwkia mespdeeian eaiqliinys yinlnprlkk dsvslhkkfi adcytrleaa
      901 ssalggptlt havtratkml tatamptvat svqspyrstk lviierllll aeryvitied
      961 fysvprtilp hgasfhghll tlnvtyestk dtftveahsn etigsvrwki akqlcspvdn
     1021 iqiftndsll tvnkdqkllh qlgfsdeqil tvktsgsgtp sgssadssts ssssssgvfs
     1081 ssyameqeks lpgvvmalvc nvfdmlyqla nleepritlr vrkllllipt dpaiqealdq
     1141 ldslgrkktl lsesssqssk spslsskqqh qpsassiles lfrsfapgms tfrvlynlev
     1201 lssklmptad ddmarscaks fcenflkagg lslvvnvmqr dsipsevdye trqgvysicl
     1261 qlarfllvgq tmptlldedl tkdgiealss rpfrnvsrqt srqmslcgtp ekssyrqlsv
     1321 sdrssirvee iipaarvaiq tmevsdftst vacfmrlswa aaagrldlvg ssqpikesns
     1381 lcpagirnrl sssgsncssg segepvalha gicvrqqsvs tkdsliagea lsllvtclql
     1441 rsqqlasfyn lpcvadfiid illgspsaei rrvacdqlyt lsqtdtsahp dvqkpnqfll
     1501 gviltaqlpl wsptsimrgv nqrllsqcme yfdlrcqlld dlttsemeql rispatmled
     1561 eitwldnfep nrtaecetse adnillaghl rliktllslc gaekemlgss likpllddfl
     1621 frasriilns hspagsaais qqdfhpkcst ansrlaayev lvmladssps nlqiiikell
     1681 smhhqpdpal tkefdylppv dsrsssgfvg lrnggatcym navfqqlymq pglpesllsv
     1741 dddtdnpdds vfyqvqslfg hlmesklqyy vpenfwkifk mwnkelyvre qqdayeffts
     1801 lidqmdeylk kmgrdqifkn tfqgiysdqk ickdcphrye reeafmalnl gvtscqslei
     1861 sldqfvrgev legsnayyce kckekritvk rtcikslpsv lvihlmrfgf dwesgrsiky
     1921 deqirfpwml nmepytvsgm arqdsssevg engrsvdqgg ggsprkkval tenyelvgvi
     1981 vhsgqahagh yysfikdrrg cgkgkwykfn dtvieefdln detleyecfg geyrpkvydq
     2041 tnpytdvrrr ywnaymlfyq rvsdqnspvl pkksrvsvvr qeaedlslsa psspeispqs
     2101 sprphrpnnd rlsiltklvk kgekkglfve kmpariyqmv rdenlkfmkn rdvyssdyfs
     2161 fvlslaslna tklkhpyypc makvslqlai qflfqtylrt kkklrvdtee wiatiealls
     2221 ksfdacqwlv eyfissegre likifllecn vrevrvavat ilektldsal fyqdklkslh
     2281 qllevllall dkdvpenckn caqyfflfnt fvqkqgirag dlllrhsalr hmisfllgas
     2341 rqnnqirrws saqarefgnl hntvallvlh sdvssqrnva pgifkqrppi siapsspllp
     2401 lheeveallf msegkpylle vmfalreltg sllaliemvv yccfcnehfs ftmlhfiknq
     2461 letapphelk ntfqllheil viedpiqver vkfvfeteng llalmhhsnh vdssrcyqcv
     2521 kflvtlaqkc paakeyfken shhwswavqw lqkkmsehyw tpqsnvsnet stgktfqrti
     2581 saqdtlayat allnekeqsg ssngsesspa nengdrhlqq gsespmmige lrsdlddvdp
//
LOCUS       XP_016856821             535 aa            linear   PRI 20-MAR-2023
DEFINITION  adenine DNA glycosylase isoform X3 [Homo sapiens].
ACCESSION   XP_016856821
VERSION     XP_016856821.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001332.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..535
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..535
                     /product="adenine DNA glycosylase isoform X3"
                     /calculated_mol_wt=58559
     Region          78..480
                     /region_name="MutY"
                     /note="Adenine-specific DNA glycosylase, acts on AG and
                     A-oxoG pairs [Replication, recombination and repair];
                     COG1194"
                     /db_xref="CDD:224115"
     CDS             1..535
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /coded_by="XM_017001332.2:225..1832"
                     /db_xref="GeneID:4595"
                     /db_xref="HGNC:HGNC:7527"
                     /db_xref="MIM:604933"
ORIGIN      
        1 mrkpraavgs ghrkqaasqe grqkhaknns qakpsacdac agmiaecpga paglarqpee
       61 vvlqasvssy hlfrdvaevt afrgsllswy dqekrdlpwr rraedemdld rrayavwvse
      121 vmlqqtqvat vinyytgwmq kwptlqdlas asleevnqlw aglgyysrgr rlqegarkvv
      181 eelgghmprt aetlqqllpg vgrytagaia siafgqatgv vdgnvarvlc rvraigadps
      241 stlvsqqlwg laqqlvdpar pgdfnqaame lgatvctpqr plcsqcpves lcrarqrveq
      301 eqllasgsls gspdveecap ntgqchlclp psepwdqtlg vvnfprkasr kppreessat
      361 cvleqpgalg aqillvqrpn sgllaglwef psvtwepseq lqrkallqel qrwagplpat
      421 hlrhlgevvh tfshikltyq vyglalegqt pvttvppgar wltqeefhta avstamkkvf
      481 rvyqgqqpgt cmgskrsqvs spcsrkkprm gqqvldnffr shistdahsl nsaaq
//
LOCUS       XP_005246043             747 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and BTB domain-containing protein 17 isoform X1 [Homo
            sapiens].
ACCESSION   XP_005246043
VERSION     XP_005246043.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005245986.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..747
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..747
                     /product="zinc finger and BTB domain-containing protein 17
                     isoform X1"
                     /calculated_mol_wt=81859
     Region          2..>69
                     /region_name="BTB_POZ"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain superfamily; cl38908"
                     /db_xref="CDD:453885"
     Region          243..574
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          245..265
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          273..293
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          301..321
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(306,308,310,312..313,316..317,320,334,336,340..341,
                     344..345,348,362,364,366,368..369,372..373,376)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          329..349
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          357..377
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          385..405
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          413..433
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(418,420,422,424..425,428..429,432,446,448,452..453,
                     456..457,460,474,476,478,480..481,484..485,488)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          441..461
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          469..489
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          497..517
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          525..545
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          553..572
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Region          663..683
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..747
                     /gene="ZBTB17"
                     /gene_synonym="MIZ-1; pHZ-67; ZNF151; ZNF60"
                     /coded_by="XM_005245986.3:209..2452"
                     /db_xref="GeneID:7709"
                     /db_xref="HGNC:HGNC:12936"
                     /db_xref="MIM:604084"
ORIGIN      
        1 mdfpqhsqhv leqlnqqrql gllcdctfvv dgvhfkahka vlaacseyfk mlfvdqkdvv
       61 hldisnaagg dkrakeekva tstlsrleqa grstpigpsr dlkeerggqa qsaasgaeqt
      121 ekadaprepp pvelkpdpts gmaaaeaeaa lsesseqeme veparkgeee qkeqeeqeee
      181 gagpaevkee gsqlengeap eeneneesag tdsgqelgse arglrsgtyg drteskaygs
      241 vihkcedcgk efthtgnfkr hirihtgekp fscrecskaf sdpaackahe kthsplkpyg
      301 ceecgksyrl isllnlhkkr hsgearyrce dcgklfttsg nlkrhqlvhs gekpyqcdyc
      361 grsfsdptsk mrhlethdtd kehkcphcdk kfnqvgnlka hlkihiadgp lkcrecgkqf
      421 ttsgnlkrhl rihsgekpyv cihcqrqfad pgalqrhvri htgekpcqcv mcgkaftqas
      481 sliahvrqht gekpyvcerc gkrfvqssql anhirhhdni rphkcsvcsk afvnvgdlsk
      541 hiiihtgekp ylcdkcgrgf nrvdnlrshv ktvhqgkagi kilepeegse vsvvtvddmv
      601 tlatealaat avtqltgpat lpavvpvgaa vtadetevlk aeiskavkqv qeedpnthil
      661 yacdscgdkf ldanslaqhv rihtaqalvm fqtdadfyqq ygpggtwpag qvlqagelvf
      721 rprdgaegqp alaetsptap ecpppae
//
LOCUS       XP_016857915             542 aa            linear   PRI 20-MAR-2023
DEFINITION  cell division cycle 7-related protein kinase isoform X2 [Homo
            sapiens].
ACCESSION   XP_016857915
VERSION     XP_016857915.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002426.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..542
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..542
                     /product="cell division cycle 7-related protein kinase
                     isoform X2"
                     /calculated_mol_wt=60320
     Region          56..406
                     /region_name="STKc_Cdc7"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Cell Division Cycle 7 kinase; cd14019"
                     /db_xref="CDD:270921"
     Site            order(64..68,72,88,90,100,118,134..137,141,143..144,177,
                     179,181..182,184,196,199,339,341..344,346,385)
                     /site_type="active"
                     /db_xref="CDD:270921"
     Site            order(64..67,70,72,88,90,118,134..137,139,181..182,184,
                     196)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270921"
     Site            order(100,143,177,179,199,339,341..344,346,385)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270921"
     Site            order(195..205,334..346)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270921"
     Region          <314..537
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..542
                     /gene="CDC7"
                     /gene_synonym="CDC7L1; HsCDC7; Hsk1; huCDC7"
                     /coded_by="XM_017002426.2:128..1756"
                     /db_xref="GeneID:8317"
                     /db_xref="HGNC:HGNC:1745"
                     /db_xref="MIM:603311"
ORIGIN      
        1 measlgiqmd epmafspqrd rfqaegslkk neqnfklagv kkdieklyea vpqlsnvfki
       61 edkigegtfs svylataqlq vgpeekialk hliptshpir iaaelqcltv aggqdnvmgv
      121 kycfrkndhv viampylehe sfldilnsls fqevreymln lfkalkrihq fgivhrdvkp
      181 snflynrrlk kyalvdfgla qgthdtkiel lkfvqseaqq ercsqnkshi itgnkiplsg
      241 pvpkeldqqs ttkasvkrpy tnaqiqikqg kdgklmkqsk tvdvlsrkla tkkkaistkv
      301 mnsavmrkta sscpasltcd cyatdkvcsi clsrrqqvap ragtpgfrap evltkcpnqt
      361 taidmwsagv iflsllsgry pfykasddlt alaqimtirg sretiqaakt fgksilcske
      421 vpaqdlrklc erlrgmdsst pkltsdiqgh ashqpaisek tdhkasclvq tppgqysgns
      481 fkkgdsnsce hcfdeyntnl egwnevpdea ydlldklldl npasritaee allhpffkdm
      541 sl
//
LOCUS       XP_047289428            1194 aa            linear   PRI 20-MAR-2023
DEFINITION  period circadian protein homolog 3 isoform X15 [Homo sapiens].
ACCESSION   XP_047289428
VERSION     XP_047289428.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433472.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1194
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1194
                     /product="period circadian protein homolog 3 isoform X15"
                     /calculated_mol_wt=131191
     Region          284..376
                     /region_name="PAS"
                     /note="PAS domain; PAS motifs appear in archaea,
                     eubacteria and eukarya. Probably the most surprising
                     identification of a PAS domain was that in EAG-like
                     K+-channels. PAS domains have been found to bind ligands,
                     and to act as sensors for light and oxygen in...; cd00130"
                     /db_xref="CDD:238075"
     Site            order(287,291,297,310..313,342,347)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238075"
     Site            order(307,311,319,322..323,354,356)
                     /site_type="other"
                     /note="heme pocket [chemical binding]"
                     /db_xref="CDD:238075"
     Region          <748..1057
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          <1074..1175
                     /region_name="Period_C"
                     /note="Period protein 2/3C-terminal region; pfam12114"
                     /db_xref="CDD:432341"
     CDS             1..1194
                     /gene="PER3"
                     /gene_synonym="FASPS3; GIG13"
                     /coded_by="XM_047433472.1:311..3895"
                     /db_xref="GeneID:8863"
                     /db_xref="HGNC:HGNC:8847"
                     /db_xref="MIM:603427"
ORIGIN      
        1 mprgeapgpg rrgakdealg eesgerwspe fhlqrklads shseqqdrnr vseelimvvq
       61 emkkyfpser rnkpstldal nyalrcvhsv qanseffqil sqngapqadv smysleelat
      121 iasehtsknt dtfvavfsfl sgrlvhiseq aalilnrkkd vlasshfvdl lapqdmrvfy
      181 ahtaraqlpf wnnwtqraar yecapvkpff crirggedrk qekchspfri ipylihvhhp
      241 aqpelesepc cltvvekihs gyeapripvn krifttthtp gcvflevdek avpllgylpq
      301 dligtsilsy lhpedrslmv aihqkvlkya ghppfehspi rfctqngdyi ildsswssfv
      361 npwsrkisfi igrhkvrtsp lnedvfatki kkmndndkdi telqeqiykl llqpvhvsvs
      421 sgygslgssg sqeqlvsias sseasghrve etkaeqmtlq qvyasvnkik nlgqqlyies
      481 mtkssfkpvt gtrtepnggg ecktftsfhq tlknnsvyte pcedlrndeh spsyqqinci
      541 dsvirylksy nipalkrkci sctnttssss eedkqnhkad dvqalqaglq ipaipksemp
      601 tngrsidtgg gapqilstam lslgsgisqc gysstivhvp ppetardatl fcepwtlnmq
      661 papltseefk hvgltaavls ahtqkeeqny vdkfrekils spyssylqqe srskakysyf
      721 qgdstskqtr sagcrkgkhk rkklpeppds sssntgsgpr rgahqnaqpc cpsaasspht
      781 ssptfppaam vpsqapylvp afplpaatsp greyaapgta peglhglpls eglqpypafp
      841 fpyldtfmtv flpdppvcpl lspsflpcpf lgatassais psmssamspt ldpppsvtsq
      901 rreeekweaq seghpfitsr sssplqlnll qeemprpses pdqmrrntcp qteycvtgnn
      961 gsesspattg alstgsppre npshptasal stgsppmknp shptasalst gsppmknpsh
     1021 ptastlsmgl ppsrtpshpt atvlstgspp sespsrtgsa asgssdssiy ltssvysski
     1081 sqngqqsqdv qkketfpnva eepiwrmirq tperilmtyq vpervkevvl kedleklesm
     1141 rqqqpqfshg qkeelakvyn wiqsqtvtqe idiqvtltss nspalfffgg lchl
//
LOCUS       XP_047281590             479 aa            linear   PRI 20-MAR-2023
DEFINITION  inhibitory synaptic factor 2A isoform X1 [Homo sapiens].
ACCESSION   XP_047281590
VERSION     XP_047281590.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425634.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..479
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..479
                     /product="inhibitory synaptic factor 2A isoform X1"
                     /calculated_mol_wt=52778
     Region          1..479
                     /region_name="FAM196"
                     /note="FAM196 family; pfam15265"
                     /db_xref="CDD:434585"
     CDS             1..479
                     /gene="INSYN2A"
                     /gene_synonym="C10orf141; FAM196A; INSYN2"
                     /coded_by="XM_047425634.1:18404..19843"
                     /db_xref="GeneID:642938"
                     /db_xref="HGNC:HGNC:33859"
                     /db_xref="MIM:617129"
ORIGIN      
        1 mvskdtgkci lttsesevep aaclalemky aldpnrqikk rnkalqvrfk diceaqneqr
       61 dtqlssgqlg ekreakpvsc raayrkymtv parrsipnvt kstgvqtspd lkkcyqtfpl
      121 drkkgnlksl paadpfksqn ngfltdakek neagpmeear pcgagrvhkt talvfhsnqh
      181 mntvdqplgv nctepckspe plsygeaalq nstrppseep dyqllgrakq drgrpnseep
      241 appalrrvfk tevatvyapa lsarapepgl sdsaaasqws lcpadderrr athlnglqap
      301 setalacspp mqclspecse qpsqthtppg lgnqpsptav aageecqriv phtevvdlka
      361 qlqmmenlis ssqetikvll gviqelekge ahreglsyrt gqdtancdtc rnsaciiysv
      421 eldfkqqedk lqpvlrklhp ieetqvipsp ysqetysstp kqkskteskk hgrwklwfl
//
LOCUS       XP_016872267             171 aa            linear   PRI 20-MAR-2023
DEFINITION  polycomb group RING finger protein 5 isoform X4 [Homo sapiens].
ACCESSION   XP_016872267
VERSION     XP_016872267.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017016778.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..171
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..171
                     /product="polycomb group RING finger protein 5 isoform X4"
                     /calculated_mol_wt=19841
     Region          <6..35
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Region          71..171
                     /region_name="RAWUL_PCGF5"
                     /note="RING finger- and WD40-associated ubiquitin-like
                     (RAWUL) domain found in polycomb group RING finger protein
                     5 (PCGF5) and similar proteins; cd17084"
                     /db_xref="CDD:340604"
     CDS             1..171
                     /gene="PCGF5"
                     /gene_synonym="RNF159"
                     /coded_by="XM_017016778.2:456..971"
                     /db_xref="GeneID:84333"
                     /db_xref="HGNC:HGNC:28264"
                     /db_xref="MIM:617407"
ORIGIN      
        1 mppymldntl eeiifklvpg lreqeleres efwkknkpqe ngqddtskad kpkvdeegde
       61 neddkdyhrs dpqiaicldc lrnngqsgdn vvkglmkkfi rcstrvtvgt ikkflslklk
      121 lpssyeldvl cngeimgkdh tmefiymtrw rlrgensypm vlqyrpridf g
//
LOCUS       XP_011536944             352 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding motif, single-stranded-interacting protein 2 isoform X9
            [Homo sapiens].
ACCESSION   XP_011536944
VERSION     XP_011536944.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011538642.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..352
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..352
                     /product="RNA-binding motif, single-stranded-interacting
                     protein 2 isoform X9"
                     /calculated_mol_wt=38916
     Region          <3..200
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     Region          10..95
                     /region_name="RRM2_MSSP2"
                     /note="RNA recognition motif 2 (RRM2) found in vertebrate
                     single-stranded DNA-binding protein MSSP-2; cd12474"
                     /db_xref="CDD:409904"
     CDS             1..352
                     /gene="RBMS2"
                     /gene_synonym="SCR3"
                     /coded_by="XM_011538642.4:173..1231"
                     /db_xref="GeneID:5939"
                     /db_xref="HGNC:HGNC:9909"
                     /db_xref="MIM:602387"
ORIGIN      
        1 makqqeqdpt nlyisnlpls mdeqelegml kpfgqvistr ilrdtsgtsr gvgfarmest
       61 ekceaiithf ngkyiktppg vpapsdpllc kfadggpkkr qnqgkfvqng rawprnadmg
      121 vmaltydptt alqngfypap ynitpnrmla qsalspylss pvssyqrvtq tsplqvpnps
      181 wmhhhsylmq psgsvltpgm dhpislqpas mmgpltqqlg hlslsstvya dgcsyarslh
      241 lpvhpcaffq cfsrgeqrpt epsgsgrtlr awglffpvqq vtvglgleke istflpftia
      301 dgawgnhhff cvlhsrrskk lfffckesfl fltatyfspt lkrhggrsfs si
//
LOCUS       XP_047285412             751 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor SOX-5 isoform X10 [Homo sapiens].
ACCESSION   XP_047285412
VERSION     XP_047285412.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429456.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..751
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..751
                     /product="transcription factor SOX-5 isoform X10"
                     /calculated_mol_wt=82450
     Region          542..619
                     /region_name="HMG-box_EGL13-like"
                     /note="high mobility group (HMG)-box found in
                     Caenorhabditis elegans protein egg laying defective 13
                     (EGL-13) and similar proteins; cd22042"
                     /db_xref="CDD:438848"
     Site            order(543,545..546,548..549,551..552,556,559,563,570..572,
                     575..576,579,582..583,601,611,613..616)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438848"
     CDS             1..751
                     /gene="SOX5"
                     /gene_synonym="L-SOX5; L-SOX5B; L-SOX5F; LAMSHF"
                     /coded_by="XM_047429456.1:495..2750"
                     /db_xref="GeneID:6660"
                     /db_xref="HGNC:HGNC:11201"
                     /db_xref="MIM:604975"
ORIGIN      
        1 msskrpaspy geadgevamv tsrqkveeee sdglpafhlp lhvsfpnkph seefqpvsll
       61 tqetcghrtp tsqhntmevd gnkvmssfap hnsstspqka eeggrqsges lsstalgtpe
      121 rrkgsladvv dtlkqrkmee liknepeetp siekllskdw kdkllamgsg nfgeikgtpe
      181 slaekerqlm gminqltslr eqllaahdeq kklaasqiek qrqqmelakq qqeqiarqqq
      241 qllqqqhkin llqqqiqqvq gqlpplmipv fppdqrtlaa aaqqgfllpp gfsykagcsd
      301 pypvqliptt maaaaaatpg lgplqlqqly aaqlaamqvs pggklpgipq gnlgaavspt
      361 sihtdkstns pppkskdeva qplnlsakpk tsdgksptsp tsphmpalri nsgagplkas
      421 vpaalaspsa rvstigylnd hdavtkaiqe arqmkeqlrr eqqvldgkva vvnslglnnc
      481 rtekekttle sltqqlavkq neegkfsham mdfnlsgdsd gsagvsesri yresrgrgsn
      541 ephikrpmna fmvwakderr kilqafpdmh nsniskilgs rwkamtnlek qpyyeeqarl
      601 skqhlekypd ykykprpkrt clvdgkklri geykaimrnr rqemrqyfnv gqqaqipiat
      661 agvvypgaia magmpsphlp sehssvsssp epgmpviqst ygvkgeephi keeiqaedin
      721 geiydeydee eddpdvdygs dsenhiagqa n
//
LOCUS       XP_047287729             190 aa            linear   PRI 20-MAR-2023
DEFINITION  protein N-lysine methyltransferase METTL21D isoform X3 [Homo
            sapiens].
ACCESSION   XP_047287729
VERSION     XP_047287729.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431773.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..190
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..190
                     /product="protein N-lysine methyltransferase METTL21D
                     isoform X3"
                     /calculated_mol_wt=20844
     Region          22..190
                     /region_name="Methyltransf_16"
                     /note="Lysine methyltransferase; pfam10294"
                     /db_xref="CDD:313513"
     Site            order(74..80,96..97,124..126,143)
                     /site_type="other"
                     /note="S-adenosylmethionine binding site [chemical
                     binding]"
                     /db_xref="CDD:100107"
     CDS             1..190
                     /gene="VCPKMT"
                     /gene_synonym="C14orf138; METTL21D; VCP-KMT"
                     /coded_by="XM_047431773.1:21..593"
                     /db_xref="GeneID:79609"
                     /db_xref="HGNC:HGNC:20352"
                     /db_xref="MIM:615260"
ORIGIN      
        1 madtlessle dplrsfvrvl ekrdgtvlrl qqyssggvgc vvwdaaivls kyletpefsg
       61 dgahalsrrs vlelgsgtga vglmaatlga dvvvtdleel qdllkmninm nkhlvtgsvq
      121 akvlkwgeei egfpsppdfi lmadciyyee slepllktlk disgfetcii ccyeqrtmgk
      181 npeiekkyfe
//
LOCUS       XP_011519540             492 aa            linear   PRI 20-MAR-2023
DEFINITION  cytosolic phospholipase A2 epsilon isoform X3 [Homo sapiens].
ACCESSION   XP_011519540
VERSION     XP_011519540.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521238.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..492
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..492
                     /product="cytosolic phospholipase A2 epsilon isoform X3"
                     /calculated_mol_wt=56585
     Region          1..487
                     /region_name="Patatin_and_cPLA2"
                     /note="Patatins and Phospholipases; cl11396"
                     /db_xref="CDD:416256"
     Site            order(5..6,8,36,324)
                     /site_type="active"
                     /db_xref="CDD:132836"
     Site            34..38
                     /site_type="other"
                     /note="nucleophile elbow"
                     /db_xref="CDD:132836"
     CDS             1..492
                     /gene="PLA2G4E"
                     /coded_by="XM_011521238.2:847..2325"
                     /db_xref="GeneID:123745"
                     /db_xref="HGNC:HGNC:24791"
ORIGIN      
        1 matgggtrsm tsmyghllgl qklnlldcas yitglsgatw tmatlyrdpd wssknlepai
       61 fearrhvvkd klpslfpdql rkfqeelrqr sqegyrvtft dfwgllietc lgderneckl
      121 sdqraalscg qnplpiylti nvkddvsnqd frewfefspy evglqkygaf ipselfgsef
      181 fmgrlvkrip esricymlgl wssifslnll dawnlshtse effhrwtrek vqdiedepil
      241 peipkcdani lettvvipgs wlsnsfreil thrsfvsefh nflsglqlht nylqngqfsr
      301 wkdtvldgfp nqltesanhl clldtaffvn ssyppllrpe rkadliihln ycagsqtkpl
      361 kqtceyctvq nipfpkyelp denenlkecy lmenpqepda pivtffplin dtfrkykapg
      421 verspeeleq gqvdiygpkt pyatkeltyt eatfdklvkl seynilnnkd tllqalrlav
      481 ekkkrlkgqc ps
//
LOCUS       XP_047288593             327 aa            linear   PRI 20-MAR-2023
DEFINITION  complex I intermediate-associated protein 30, mitochondrial isoform
            X1 [Homo sapiens].
ACCESSION   XP_047288593
VERSION     XP_047288593.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432637.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..327
                     /product="complex I intermediate-associated protein 30,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=37633
     Region          125..298
                     /region_name="CIA30"
                     /note="Complex I intermediate-associated protein 30
                     (CIA30); pfam08547"
                     /db_xref="CDD:430066"
     CDS             1..327
                     /gene="NDUFAF1"
                     /gene_synonym="CGI-65; CGI65; CIA30; MC1DN11"
                     /coded_by="XM_047432637.1:618..1601"
                     /db_xref="GeneID:51103"
                     /db_xref="HGNC:HGNC:18828"
                     /db_xref="MIM:606934"
ORIGIN      
        1 malvhkllrg tyflrkfskp tsalypflgi rfaeyssslq kpvaspgkas sqrktegdlq
       61 gdhqkevald itsseekpdv sfdkairdea iyhfrllkde ivdhwrgpeg hplhevlleq
      121 akvvwqfrgk edldkwtvts dktiggrsev flkmgknnqs allygtlsse apqdgestrs
      181 gycamisrip rgaferkmsy dwsqfntlyl rvrgdgrpwm vnikedtdff qrtnqmysyf
      241 mftrggpywq evkipfskff fsnrgrirdv qhelpldkis sigftladkv dgpffleidf
      301 igvftdpaht eefayenspe lnprlfk
//
LOCUS       XP_047290285             594 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing protein 36 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047290285
VERSION     XP_047290285.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434329.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..594
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..594
                     /product="leucine-rich repeat-containing protein 36
                     isoform X4"
                     /calculated_mol_wt=65955
     Region          26..51
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          <50..141
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          52..73
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          74..98
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     CDS             1..594
                     /gene="LRRC36"
                     /gene_synonym="RORBP70; XLHSRF2"
                     /coded_by="XM_047434329.1:49..1833"
                     /db_xref="GeneID:55282"
                     /db_xref="HGNC:HGNC:25615"
ORIGIN      
        1 maeqweldee girrlgaltl eqpelvesls lqgsyagkih sigdafrnfk nlrsldlsrn
       61 litslkgiqy lcslqdlnly ynnipslvev srlqplpflk eldlrlnpvv rkdtdyrlfa
      121 vytlqtlekl ddrtvreger kaaklhfsql gnsenfllev ekssrektmk ncvtgessas
      181 kvsanvdsri emdsnkglfi pfpnreikds lstsatqgng trdqkldtfp lgtqtqevar
      241 rempsdnhqe defrhysprq stvrspekmt regyqvsfld nkssgsspek elipkpdtfh
      301 lthdaslskc ldvgdssqih pyqlpsdvgl enydscysqt lslhgslgkr pqrsknyqey
      361 sikpsndikt tashscgdll tslsnpdsst grllklssdl yatthfnsdp avlvnveqql
      421 stslddltpa hgsvpnnavl gnrttplrtl llspgtsehr kiftkrslsp skrgfkwkdn
      481 ilanlnlkhg fqdatgsepl ssdlgslhgl agnhsppisa rtphvatvlr qllelvdkhw
      541 ngsgslllnk kflgkfeakt gqsaggkphf vrknstvggr cchlncewat vtyl
//
LOCUS       XP_005256283             869 aa            linear   PRI 20-MAR-2023
DEFINITION  TATA box-binding protein-associated factor RNA polymerase I subunit
            C isoform X2 [Homo sapiens].
ACCESSION   XP_005256283
VERSION     XP_005256283.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005256226.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..869
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..869
                     /product="TATA box-binding protein-associated factor RNA
                     polymerase I subunit C isoform X2"
                     /calculated_mol_wt=95083
     CDS             1..869
                     /gene="TAF1C"
                     /gene_synonym="MGC:39976; SL1; TAFI110; TAFI95"
                     /coded_by="XM_005256226.4:159..2768"
                     /db_xref="GeneID:9013"
                     /db_xref="HGNC:HGNC:11534"
                     /db_xref="MIM:604905"
ORIGIN      
        1 mdfpsslrpa lfltgplgls dvpdlsfmcs wrdaltlpea qpqnsengal hvtkdllwep
       61 atpgplpmlp plidpwdpgl tardllfrgg cryrkrprvv ldvteqisrf lldhgdvafa
      121 plgklmlenf klegagsrtk kktvvsvkkl lqdlgghqpw gcpwaylsnr qrrfsilggp
      181 ilgtsvashl aellheelvl rweqllldea ctggalawvp grtpqfgqlv ypaggaqdrl
      241 hfqevvltpg dnpqflgkpg riqlqgpvrq vvtctvqges kaliytflph wltcyltpgp
      301 fhpssallav rsdyhcavwk fgkqwqptll qamqvekgat gislsphlpg elaicsrsga
      361 vclwspedgl rqiyrdpetl vfrdssswrw adftahprvl tvgdrtgvkm ldtqgppgcg
      421 lllfrlgaea scqkgervll tqylghsspk clpptlhlvc tqfslylvde rlplvpmlkw
      481 nhglpsplll arllppprps cvqplllggq ggqlqllhla gegasvprla gppqslpsri
      541 dslpafplle pkiqwrlqer lkaptiglaa vvpplpsapt pglvlfqlsa agdvfyqqlr
      601 pqvdsslrrd agppgdtqpd chaptaswts qdtagcsqwl kallkvplap pvwtaptfth
      661 rqmlgstelr reeeegqrlg vlrkamargq lllqrdlgsl paaepppape sgledklser
      721 lgeawagrga awwerqqgrt sepgrqtrrp krrtqlsssf slsghvdpse dtssphspew
      781 ppadalplpp ttppsqeltp dacaqgvpse qrqmlrdyma klppqrdtpg cattpphsqa
      841 ssvratrsqq htpvlsssqp lrkkprmgf
//
LOCUS       XP_005257160             799 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase MARCHF10 isoform X7 [Homo
            sapiens].
ACCESSION   XP_005257160
VERSION     XP_005257160.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005257103.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..799
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..799
                     /product="probable E3 ubiquitin-protein ligase MARCHF10
                     isoform X7"
                     /calculated_mol_wt=89695
     Region          649..724
                     /region_name="RING_CH-C4HC3_MARCH10"
                     /note="RING-CH finger, H2 subclass (C4HC3-type), found in
                     membrane-associated RING-CH10 (MARCH10); cd16813"
                     /db_xref="CDD:438462"
     CDS             1..799
                     /gene="MARCHF10"
                     /gene_synonym="MARCH-X; MARCH10; RNF190"
                     /coded_by="XM_005257103.3:256..2655"
                     /db_xref="GeneID:162333"
                     /db_xref="HGNC:HGNC:26655"
                     /db_xref="MIM:613337"
ORIGIN      
        1 mlhdardrqk ffsdvqylrd mqhkvdseyq aclrrqeyrr dpnekkrdqf wgqetsfers
       61 rfssrssskq ssseedalte prssikisaf kcdsklpaid qtsvkqkhks tmtvrkaekv
      121 dpsepspdqa pmvllrkrkp nlrrftvspe shsprasgdr srqkqqwpak vpvprgadqv
      181 vqqeglmcnt klkrpnqerr nlvpssqpmt enapdrakkg dpsapsqsel hpalsqafqg
      241 knspqvlsef sgppltpttv ggprkasfrf rdedfysils lnsrresddt eeetqseecl
      301 wvgvrspcsp shhkrsrfgg tstpqaknkn feenaencrg hssrrsepsh gslrisname
      361 paterpsagq rlsqdpglpd resatekdrg gsenakkspl swdtkseprq evgvnaenvw
      421 sdcisvehrp gthdsegywk dylnssqnsl dyfisgrpis prssvnssyn ppasfmhsal
      481 rddipvdlsm sstsvhssds egnsgfhvcq plspirnrtp fasaenhnyf pvnsahefav
      541 reaedttlts qpqgaplytd lllnpqgnls lvdsssssps rmnseghlhv sgslqentpf
      601 tffavshfpn qndngsrmaa sgftdekets kikadpeklk klqeslleed seeegdlcri
      661 cqiaggspsn pllepcgcvg slqfvhqecl kkwlkvkits gadlgavktc emckqgllvd
      721 lgdfnmiefy qkhqqsqaqn elmnsglylv lllhlyeqrf aelmrlnhnq vererlsrny
      781 pqprteenes rfwgpvlpf
//
LOCUS       XP_016879765             367 aa            linear   PRI 20-MAR-2023
DEFINITION  rhomboid-related protein 3 isoform X4 [Homo sapiens].
ACCESSION   XP_016879765
VERSION     XP_016879765.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017024276.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 25% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..367
                     /product="rhomboid-related protein 3 isoform X4"
                     /calculated_mol_wt=40509
     Region          144..>199
                     /region_name="Rhomboid"
                     /note="Rhomboid family; cl21536"
                     /db_xref="CDD:451297"
     CDS             1..367
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
                     /coded_by="XM_017024276.2:359..1462"
                     /db_xref="GeneID:162494"
                     /db_xref="HGNC:HGNC:16502"
                     /db_xref="MIM:619017"
ORIGIN      
        1 mgehpspgpa vaacaeaeri eelepeaeer lpaapedmsn krsnsfrqai lqgnrrlssk
       61 alleekglsl sqrlirhvay etlpreidrk wyydsytccp ppwfmitvtl levafflyng
      121 vslgqfvlqv thprylknsl vyhpqlraqv wryltyifmh agiehlglnv vlqllvgvpl
      181 emvhgatrig lvyvagvvae lvrhevpvqa aadgcgpyly ehgvwagrva plppvglspv
      241 pspklcgalg wrgrghhpgr ggpeelraea pgpvtvvdfc ghvhrlravr cllehlclhp
      301 aglkaaaspl raggprsgrg gkssthrerl rgffsspaql gradkdrrlw atvmfvfrfg
      361 htvetlf
//
LOCUS       XP_006721818             342 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc transporter ZIP11 isoform X1 [Homo sapiens].
ACCESSION   XP_006721818
VERSION     XP_006721818.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006721755.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..342
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..342
                     /product="zinc transporter ZIP11 isoform X1"
                     /calculated_mol_wt=35265
     Region          6..342
                     /region_name="ZupT"
                     /note="Zinc transporter ZupT [Inorganic ion transport and
                     metabolism]; COG0428"
                     /db_xref="CDD:223505"
     CDS             1..342
                     /gene="SLC39A11"
                     /gene_synonym="C17orf26; ZIP-11; ZIP11"
                     /coded_by="XM_006721755.3:383..1411"
                     /db_xref="GeneID:201266"
                     /db_xref="HGNC:HGNC:14463"
                     /db_xref="MIM:616508"
ORIGIN      
        1 mlqghssvfq allgtfftwg mtaagaalvf vfssgqrril dgslgfaagv mlaasywsll
       61 apavematss ggfgafaffp vavgftlgaa fvyladllmp hlgaaedpqt tlalnfgstl
      121 mkkksdpegp allfpesels irigraglls dksengeayq rkkaaatglp egpavpvpsr
      181 gnlaqpggss wrriallila itihnvpegl avgvgfgaie ktasatfesa rnlaigigiq
      241 nfpeglavsl plrgagfstw rafwygqlsg mveplagvfg afavvlaepi lpyalafaag
      301 amvyvvmddi ipeaqisgng klaswasilg fvvmmsldvg lg
//
LOCUS       XP_006721824             508 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 65 isoform X4 [Homo sapiens].
ACCESSION   XP_006721824
VERSION     XP_006721824.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006721761.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..508
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..508
                     /product="tripartite motif-containing protein 65 isoform
                     X4"
                     /calculated_mol_wt=56061
     Region          7..61
                     /region_name="RING-HC_TRIM65_C-IV"
                     /note="RING finger, HC subclass, found in tripartite
                     motif-containing protein TRIM65 and similar proteins;
                     cd16609"
                     /db_xref="CDD:438271"
     Region          93..134
                     /region_name="Bbox2_TRIM65_C-IV"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein 65 (TRIM65) and similar proteins;
                     cd19835"
                     /db_xref="CDD:380893"
     Region          320..492
                     /region_name="SPRY_PRY_TRIM65"
                     /note="PRY/SPRY domain in tripartite motif-containing
                     domain 65 (TRIM65); cd12896"
                     /db_xref="CDD:293953"
     CDS             1..508
                     /gene="TRIM65"
                     /gene_synonym="4732463G12Rik"
                     /coded_by="XM_006721761.4:15..1541"
                     /db_xref="GeneID:201292"
                     /db_xref="HGNC:HGNC:27316"
                     /db_xref="MIM:619408"
ORIGIN      
        1 maaqlleekl tcaiclglyq dpvtlpcghn fcgacirdww drcgkacpec repfpdgael
       61 rrnvalsgvl evvragpard pgpdpgpgpd paarcprhgr plelfcrteg rcvcsvctvr
      121 ecrlherall daerlkreaq lraslevtqq qatqaegqll elrkqssqiq gpghpeappv
      181 paqnsacila swvsgkfssl lqaleiqhtt alrsievakt qalaqardee qrlrvhleav
      241 arhgcrirel leqvdeqtfl qesqllqppg plgpltplqw dedqqlgdlk qllsrlcgll
      301 leegshpgap akpvdlapvd yrnltfdpvs anrhfylsrq dqqvkhcrqs rgpggpgsfe
      361 lwqvqcaqsf qaghhywevr asdhsvtlgv sypqlprcrl gphtdnigrg pcswglcvqe
      421 dslqawhnge aqrlpgvsgr llgmdldlas gcltfyslep qtqplytfha lfnqpltpvf
      481 wllegrtltl chqpgavfpl gpqeevls
//
LOCUS       XP_016880109             302 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing protein 75A isoform X2 [Homo
            sapiens].
ACCESSION   XP_016880109
VERSION     XP_016880109.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017024620.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..302
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..302
                     /product="leucine-rich repeat-containing protein 75A
                     isoform X2"
                     /calculated_mol_wt=33473
     Region          <127..223
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     CDS             1..302
                     /gene="LRRC75A"
                     /gene_synonym="C17orf76; FAM211A"
                     /coded_by="XM_017024620.2:714..1622"
                     /db_xref="GeneID:388341"
                     /db_xref="HGNC:HGNC:32403"
ORIGIN      
        1 mhqsrnwgcn rqptrrkpwq qlfpflregw qgpqkpppvq dlgmestsld dvlyryasfr
       61 nlvdpithdl iislaryihc pkpegdalga meklcrqlty hlsphsqwrr hrglvkrkpq
      121 aclkavlags ppdntvdlsg ipltsrdler vtsylqrcge qvdsvelgft gltddmvlql
      181 lpalstlprl ttlalngnrl travlrdltd ilkdpskfpn vtwidlgnnv difslpqpfl
      241 lslrkrspkq ghlptilelg egpgsgeevr egtvgqedpg ggpvapaedh hegketvaaa
      301 qt
//
LOCUS       XP_047292185             318 aa            linear   PRI 20-MAR-2023
DEFINITION  NAD-dependent protein deacetylase sirtuin-7 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047292185
VERSION     XP_047292185.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436229.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..318
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..318
                     /product="NAD-dependent protein deacetylase sirtuin-7
                     isoform X3"
                     /calculated_mol_wt=35572
     Region          31..232
                     /region_name="SIRT7"
                     /note="Eukaryotic and prokaryotic group (class4) which
                     includes human sirtuin SIRT6, SIRT7, and several bacterial
                     homologs; and are members of the SIR2 family of proteins,
                     silent information regulator 2 (Sir2) enzymes which
                     catalyze NAD+-dependent protein...; cd01410"
                     /db_xref="CDD:238701"
     Site            order(37..38,67,85..86,88,105,186,191,216..217,232)
                     /site_type="other"
                     /note="NAD+ binding site [chemical binding]"
                     /db_xref="CDD:238701"
     Site            order(87,105,155,157..161,190..191,195)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:238701"
     Site            order(113,116,143,146)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:238701"
     CDS             1..318
                     /gene="SIRT7"
                     /gene_synonym="SIR2L7"
                     /coded_by="XM_047436229.1:32..988"
                     /db_xref="GeneID:51547"
                     /db_xref="HGNC:HGNC:14935"
                     /db_xref="MIM:606212"
ORIGIN      
        1 msssnrekla fkaalrffll kkrndqnlpk aasipdyrgp ngvwtllqkg rsvsaadlse
       61 aeptlthmsi trlheqklvq hvvsqncdgl hlrsglprta iselhgnmyi evctscvpnr
      121 eyvrvfdvte rtalhrhqtg rtchkcgtql rdtivhfger gtlgqplnwe aateaasrad
      181 tilclgsslk vlkkyprlwc mtkppsrrpk lyivnlqwtp kddwaalklh gkcddvmrll
      241 maelgleipa ysrwqdpifs latplragee gshsrkslcr sreeappgdr gaplssapil
      301 ggwfgrgctk rtkrkkvt
//
LOCUS       XP_016882062             488 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 345 isoform X1 [Homo sapiens].
ACCESSION   XP_016882062
VERSION     XP_016882062.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017026573.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..488
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..488
                     /product="zinc finger protein 345 isoform X1"
                     /calculated_mol_wt=55252
     Region          64..84
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(69,71,73,75..76,79..80,83,97,99,103..104,107..108,
                     111,125,127,129,131..132,135..136,139)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          88..476
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          92..112
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          120..140
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          148..168
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          176..196
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          204..224
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          232..252
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          260..280
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(265,267,269,271..272,275..276,279,293,295,299..300,
                     303..304,307,321,323,325,327..328,331..332,335)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          288..308
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          316..336
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          344..364
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          372..392
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(377,379,381,383..384,387..388,391,405,407,411..412,
                     415..416,419,433,435,437,439..440,443..444,447)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          400..420
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          428..448
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          456..476
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..488
                     /gene="ZNF345"
                     /gene_synonym="HZF10"
                     /coded_by="XM_017026573.2:422..1888"
                     /db_xref="GeneID:25850"
                     /db_xref="HGNC:HGNC:16367"
ORIGIN      
        1 menltkhsie cssfrgdwec knqferkqgs qeghfsemif tpedmptfsi qhqrihtdek
       61 lleckecgkd fsfvsvlvrh qrihtgekpy eckecgkafg sganlayhqr ihtgekpfec
      121 kecgkafgsg snlthhqrih tgekpyecke cgkafsfgsg lirhqiihsg ekpyeckecg
      181 ksfsfesali rhhrihtgek pyecidcgka fgsgsnltqh rrihtgekpy eckacgmafs
      241 sgsaltrhqr ihtgekpyic necgkafsfg saltrhqrih tgekpyvcke cgkafnsgsd
      301 ltqhqrihtg ekpyeckece kafrsgskli qhqrmhtgek pyeckecgkt fssgsdltqh
      361 hrihtgekpy eckecgkafg sgskliqhql ihtgerpyec kecgksfssg salnrhqrih
      421 tgekpyecke cgkafysgss ltqhqrihtg eklyeckncg kaygrdsefq qhkkshngkk
      481 lceletin
//
LOCUS       XP_047295025             248 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF126 isoform X1 [Homo sapiens].
ACCESSION   XP_047295025
VERSION     XP_047295025.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439069.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..248
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..248
                     /product="E3 ubiquitin-protein ligase RNF126 isoform X1"
                     /calculated_mol_wt=27335
     Region          10..40
                     /region_name="zinc_ribbon_9"
                     /note="zinc-ribbon; pfam14369"
                     /db_xref="CDD:433910"
     CDS             1..248
                     /gene="RNF126"
                     /coded_by="XM_047439069.1:94..840"
                     /db_xref="GeneID:55658"
                     /db_xref="HGNC:HGNC:21151"
                     /db_xref="MIM:615177"
ORIGIN      
        1 maeasphpgr yfchccsvei vprlpdyicp rcesgfieel peetrsteng sapstaptdq
       61 srpplehvdq hlftlpqgyg qfafgifdds feiptfppga qaddgrdpes rrerdhpsrh
      121 rygarqprar lttrratgrh egvptlegii qqlvngiitp atipslgpwg vlhsnpmdya
      181 wgangldaii tqvlqprvse pragpprssr hsrllsfsss islktqaphr qikrksrpsp
      241 pspslrst
//
LOCUS       XP_047295286             682 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 45 isoform X1 [Homo sapiens].
ACCESSION   XP_047295286
VERSION     XP_047295286.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439330.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..682
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..682
                     /product="zinc finger protein 45 isoform X1"
                     /calculated_mol_wt=78111
     Region          8..67
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Site            order(148,150..151,154..155,157,171,173,177..178,181..182,
                     185,199,201,203,205..206,209..210,213)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          166..186
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          169..542
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          194..214
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          251..270
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          278..298
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          306..326
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(311,313,315,317..318,321..322,325,339,341,345..346,
                     349..350,353,367,369,371,373..374,377..378,381)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          334..354
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          362..382
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          390..410
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          418..438
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          446..466
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(451,453,455,457..458,461..462,465,479,481,485..486,
                     489..490,493,507,509,511,513..514,517..518,521)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          474..494
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <496..607
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          502..522
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          530..550
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          558..578
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          586..606
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(591,593,595,597..598,601..602,605,619,621,625..626,
                     629..630,633,647,649,651,653..654,657..658,661)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          598..622
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          614..634
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          626..650
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          642..662
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..682
                     /gene="ZNF45"
                     /gene_synonym="KOX5; ZNF13"
                     /coded_by="XM_047439330.1:1012..3060"
                     /db_xref="GeneID:7596"
                     /db_xref="HGNC:HGNC:13111"
                     /db_xref="MIM:194554"
ORIGIN      
        1 mtkskeavtf kdvavvfsee elqlldlaqr klyrdvmlen frnvvsvghq stpdglpqle
       61 reeklwmmkm atqrdnssga knlkemetlq evglrylphe elfcsqiwqq itrelikyqd
      121 svvniqrtgc qlekrddlhy kdegfsnqss hlqvhrvhtg ekpykgehcv ksfswsshlq
      181 inqrahagek pykcekcdna frrfsslqah qrvhsraksy tndasyrsfs qrshlphhqr
      241 vptgenpyky eecgrnvgks shcqaplivh tgekpykcee cgvgfsqrsy lqvhlkvhtg
      301 kkpykceecg ksfswrsrlq aherihtgek pykcnacgks fsysshlnih crihtgekpy
      361 kceecgkgfs vgshlqahqi shtgekpykc eecgkgfcra snlldhqrgh tgekpyqcda
      421 cgkgfsrssd fnihfrvhtg ekpykceecg kgfsqasnll ahqrghtgek pykcgtcgkg
      481 fsrssdlnvh crihtgekpy kcercgkafs qfsslqvhqr vhtgekpyqc aecgkgfsvg
      541 sqlqahqrch tgekpyqcee cgkgfcrasn flahrgvhtg ekpyrcdvcg krfrqrsylq
      601 ahqrvhtger pykceecgkv fswssylqah qrvhtgekpy kceecgkgfs wsssliihqr
      661 vhaddegdkd fpssedshrk tr
//
LOCUS       XP_005246301             207 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin-conjugating enzyme E2 E3 isoform X1 [Homo sapiens].
ACCESSION   XP_005246301
VERSION     XP_005246301.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005246244.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..207
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..207
                     /product="ubiquitin-conjugating enzyme E2 E3 isoform X1"
                     /calculated_mol_wt=22782
     Site            order(64,121..122,155..156)
                     /site_type="active"
                     /note="E3 interaction residues [active]"
                     /db_xref="CDD:238117"
     Region          65..202
                     /region_name="UQ_con"
                     /note="Ubiquitin-conjugating enzyme; pfam00179"
                     /db_xref="CDD:395127"
     Site            order(132..133,137..138,140,144..146,148..149,153..154,
                     157,162,165,168,171..172,174,176..177)
                     /site_type="active"
                     /note="Ub thioester intermediate interaction residues
                     [active]"
                     /db_xref="CDD:238117"
     Site            145
                     /site_type="active"
                     /note="active site cysteine"
                     /db_xref="CDD:238117"
     CDS             1..207
                     /gene="UBE2E3"
                     /gene_synonym="UBCH9; UbcM2"
                     /coded_by="XM_005246244.3:354..977"
                     /db_xref="GeneID:10477"
                     /db_xref="HGNC:HGNC:12479"
                     /db_xref="MIM:604151"
ORIGIN      
        1 mssdrqrsdd espstssgss dadqrdpaap epeeqeerkp satqqkkntk lsskttakls
       61 tsakriqkel aeitldpppn csagpkgdni yewrstilgp pgsvyeggvf flditfssdy
      121 pfkppkvtfr triyhcnins qgvicldilk dnwspaltis kvllsicsll tdcnpadplv
      181 gsiatqyltn raehdriarq wtkryat
//
LOCUS       XP_011531155            1722 aa            linear   PRI 20-MAR-2023
DEFINITION  latent-transforming growth factor beta-binding protein 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_011531155
VERSION     XP_011531155.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011532853.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1722
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1722
                     /product="latent-transforming growth factor beta-binding
                     protein 1 isoform X1"
                     /calculated_mol_wt=186737
     Region          567..602
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          626..>656
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(626,629,643)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          688..729
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          <742..869
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          897..919
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          916..957
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(916,919,934)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          958..998
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(958,961,975)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          999..1032
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(999,1002,1016)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1039..1078
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1039,1042,1056)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1080..1111
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1080,1083,1097)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1121..1161
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1121,1124,1138)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1162..1192
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(1162,1165,1180)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1203..1244
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1203,1206,1221)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1245..1286
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1245,1248,1263)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1360..1402
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          1536..1578
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          1643..1666
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          1663..>1697
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1663,1666,1684)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     CDS             1..1722
                     /gene="LTBP1"
                     /gene_synonym="ARCL2E"
                     /coded_by="XM_011532853.3:373..5541"
                     /db_xref="GeneID:4052"
                     /db_xref="HGNC:HGNC:6714"
                     /db_xref="MIM:150390"
ORIGIN      
        1 magawlrwgl llwagllass ahgrlrrity vvhpgpglaa galplsgppr srtfnvalna
       61 rysrssaaag apsraspgvp sertrrtskp ggaalqglrp ppppppepar pavpggqlhp
      121 npgghpaaap ftkqgrqvvr skvpqetqsg ggsrlqvhqk qqlqgvnvcg grcchgwska
      181 pgsqrctkps cvppcqnggm clrpqlcvck pgtkgkacet iaaqdtsspv fggqspgaas
      241 swgppeqaak htsskkadtl prvspvaqmt ltlkpkpsvg lpqqihsqvt plssqsvvih
      301 hgqtqeyvlk pkyfpaqkgi sgeqstegsf plryvqdqva apfqlsnhtg rikvvftpsi
      361 ckvtctkgsc qnscekgntt tlisenghaa dtltatnfrv vichlpcmng gqcssrdkcq
      421 cppnftgklc qipvhgasvp klyqhsqqpg kalgthvihs thtlpltvts qqgvkvkfpp
      481 nivnihvkhp peasvqihqv sridgptgqk tkeaqpgqsq vsyqglpvqk tqtihstysh
      541 qqviphvypv aaktqlgrcf qetigsqcgk alpglskqed ccgtvgtswg fnkcqkcpkk
      601 psyhgynqmm eclpgykrvn ntfcqdinec qlqgvcpnge clntmgsyrc tckigfgpdp
      661 tfsscvpdpp viseekgpcy rlvssgrqcm hplsvhltkq lcccsvgkaw gphcekcplp
      721 gtaafkeicp ggmgytvsgv hrrrpihhhv gkgpvfvkpk ntqpvaksth ppplpakeep
      781 vealtfsreh gpgvaepeva tappekeips ldqektklep gqpqlspgis tihlhpqfpg
      841 iviektsppv pvevapeast ssasqviapt qvteinectv npdicgaghc inlpvrytci
      901 cyegyrfseq qrkcvdidec tqvqhlcsqg rcentegsfl cicpagfmas eegtncidvd
      961 eclrpdvcge ghcvntvgaf rceycdsgyr mtqrgrcedi declnpstcp deqcvnspgs
     1021 yqcvpctegf rgwngqcldv declepnvca ngdcsnlegs ymcschkgyt rtpdhkhcrd
     1081 idecqqgnlc vngqcknteg sfrctcgqgy qlsaakdqce didecqhrhl cahgqcrnte
     1141 gsfqcvcdqg yrasglgdhc edinecledk svcqrgdcin tagsydctcp dgfqlddnkt
     1201 cqdinecehp glcgpqgecl ntegsfhcvc qqgfsisadg rtcedidecv nntvcdshgf
     1261 cdntagsfrc lcyqgfqapq dgqgcvdvne cellsgvcge afcenvegsf lcvcadenqe
     1321 yspmtgqcrs rtstdldvdv dqpkeekkec yynlndaslc dnvlapnvtk qeccctsgvg
     1381 wgdnceifpc pvlgtaefte mcpkgkgfvp agessseagg enykdadecl lfgqeickng
     1441 fclntrpgye cyckqgtyyd pvklqcfdmd ecqdpsscid gqcvntegsy ncfcthpmvl
     1501 dasekrcirp aesneqieet dvyqdlcweh lsdeyvcsrp lvgkqttyte ccclygeawg
     1561 mqcalcplkd sddyaqlcni pvtgrrqpyg rdalvdfseq ytpeadpyfi qdrflnsfee
     1621 lqaeecgiln gcengrcvrv qegytcdcfd gyhldtakmt cvdvnecdel nnrmslckna
     1681 kcintdgsyk clclpgyvps dkpnyctpln talnlekdsd le
//
LOCUS       XP_016860047            4837 aa            linear   PRI 20-MAR-2023
DEFINITION  baculoviral IAP repeat-containing protein 6 isoform X26 [Homo
            sapiens].
ACCESSION   XP_016860047
VERSION     XP_016860047.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004558.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4837
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..4837
                     /product="baculoviral IAP repeat-containing protein 6
                     isoform X26"
                     /calculated_mol_wt=527920
     Region          289..359
                     /region_name="BIR"
                     /note="Inhibitor of Apoptosis domain; pfam00653"
                     /db_xref="CDD:425801"
     Site            order(317,325,327,334..336,338,342,347,351..352)
                     /site_type="active"
                     /note="peptide binding groove [active]"
                     /db_xref="CDD:237989"
     Site            order(328,331,348,355)
                     /site_type="other"
                     /note="Zn2+ binding site [ion binding]"
                     /db_xref="CDD:237989"
     Region          901..>974
                     /region_name="Nsa1_WDR74-like"
                     /note="Ribosome biogenesis protein Nsa1 and similar
                     proteins; cl45912"
                     /db_xref="CDD:459257"
     Region          3443..3598
                     /region_name="BIRC6"
                     /note="Baculoviral IAP repeat-containing protein 6;
                     pfam12356"
                     /db_xref="CDD:432501"
     Region          4577..4715
                     /region_name="UBCc"
                     /note="Ubiquitin-conjugating enzyme E2, catalytic (UBCc)
                     domain. This is part of the ubiquitin-mediated protein
                     degradation pathway in which a thiol-ester linkage forms
                     between a conserved cysteine and the C-terminus of
                     ubiquitin and complexes with ubiquitin...; cd00195"
                     /db_xref="CDD:238117"
     Site            order(4617..4618,4663..4664)
                     /site_type="active"
                     /note="E3 interaction residues [active]"
                     /db_xref="CDD:238117"
     Site            order(4628,4634,4638..4639,4641,4645..4647,4649..4650,
                     4661..4662,4665,4671,4674,4677,4680,4683,4685,4687..4688)
                     /site_type="active"
                     /note="Ub thioester intermediate interaction residues
                     [active]"
                     /db_xref="CDD:238117"
     Site            4646
                     /site_type="active"
                     /note="active site cysteine"
                     /db_xref="CDD:238117"
     CDS             1..4837
                     /gene="BIRC6"
                     /gene_synonym="APOLLON; BRUCE"
                     /coded_by="XM_017004558.2:140..14653"
                     /db_xref="GeneID:57448"
                     /db_xref="HGNC:HGNC:13516"
                     /db_xref="MIM:605638"
ORIGIN      
        1 mvtgggaapp gtvteplpsv ivlsagrkma aaaaaasgpg cssaagagaa gvsewlvlrd
       61 gcmhcdadgl hslsyhpaln ailavtsrgt ikvidgtsga tlqasalsak pggqvkcqyi
      121 savdkvifvd dyavgcrkdl ngillldtal qtpvskqddv vqlelpvtea qqllsaclek
      181 vdisstegyd lfitqlkdgl kntshetaan hkvakwatvt fhlphhvlks iasaivnelk
      241 kinqnvaalp vassvmdrls yllpsarpel gvgpgrsvdr slmyseanrr etftswphvg
      301 yrwaqpdpma qagfyhqpas sgddramcft csvclvcwep tdepwseher hspncpfvkg
      361 ehtqnvplsv tlatspaqfp ctdgtdrisc fgsgscphfl aaatkrgkic iwdvsklmkv
      421 hlkfeinayd paivqqlils gdpssgvdsr rptlawleds sscsdipkle gdsddlleds
      481 dseehsrsds vtghtsqkea mevsldital silqqpeklq weivanvled tvkdleelga
      541 npcltnskse ktkekhqeqh nipfpcllag glltykspat spissnshrs ldglsrtqge
      601 siseqgstdn esctnselns plvrrtlpvl llysikesde kagkifsqmn nimskslhdd
      661 gftvpqiiem eldsqeqlll qdppvtyiqq fadaaanlts pdsekwnsvf pkpgtlvqcl
      721 rlpkfaeeen lcidsitpca dgihllvglr tcpveslsai nqvealnnln klnsalcnrr
      781 kgelesnlav vnganisviq hespadvqtp liiqpeqrnv sggylvlykm nyatrivtle
      841 eepikiqhik dpqdtitsli llppdildnr eddceepied mqltskngfe rektsdistl
      901 ghlvittqgg yvkildlsnf eilakveppk kegteeqdtf vsviycsgtd rlcactkgge
      961 lhflqiggtc ddideadilv dgslskgiep ssegskplsn psspgisgvd llvdqpftle
     1021 iltslveltr fetltprfsa tvppcwvevq qeqqqrrhpq hlhqqhhgda aqhtrtwklq
     1081 tdsnswdehv felvlpkacm vghvdfkfvl nsnitnipqi qvtllknkap glgkvnalni
     1141 eveqngkpsl vdlneemqhm dveesqclrl cpfledhked ilcgpvwlas gldlsghagm
     1201 ltltspklvk gmaggkyrsf lihvkavner gteeicnggm rpvvrlpslk hqsnkgysla
     1261 sllakvaagk ekssnvknen tsgtrksenl rgcdllqevs vtirrfkkts iskervqrca
     1321 mlqfsefhek llntlcrktd dgqitehaqs lvldtlcwla gvhsngpgss kegnenllsk
     1381 trkflsdivr vcffeagrsi ahkcarflal cisngkcdpc qpafgpvllk alldnmsflp
     1441 aattggsvyw yfvllnyvkd edlagcstac aslltavsrq lqdrltpmea llqtryglys
     1501 spfdpvlfdl emsgsscknv ynssigvqsd eidlsdvlsg ngkvssctaa egsftsltgl
     1561 leveplhftc vstsdgtrie rddastftvs sfgvtpavgg lssgtvgeas talssaaqka
     1621 kleaklhqtt aaaaaaasav gpvhnsvpsn pvaapgffih psdvipptpk ttplfmtppl
     1681 tppneavsvv inaelaqlfp gsvidppavn laahnknsnk srmnplgsgl alaishashf
     1741 lqppphqsii iermhsgarr fvtldfgrpi lltdvliptc gdlaslsidi wtlgeevdgr
     1801 rlvvatdist hslilhdlip ppvcrfmkit vigrygstna rakiplgfyy ghtyilpwes
     1861 elklmhdplk gegesanqpe idqhlammva lqediqcryn lachrletll qsidlpplns
     1921 annaqyflrk pdkaveedsr vfsayqdciq lqlqlnlahn avqrlkvalg asrkmlsets
     1981 npedliqtss teqlrtiiry lldtllsllh asnghsvpav lqstfhaqac eelfkhlcis
     2041 gtpkirlhtg lllvqlcgge rwwgqflsnv lqelynseql lifpqdrvfm llscigqrsl
     2101 snsgvlesll nlldnllspl qpqlpmhrrt egvldipmis wvvmlvsrll dyvatvedea
     2161 aaakkplngk drerfltgnq wsfinnnlht qslnrsskgs ssldrlysrk irkqlvhhkq
     2221 qlnllkakqk alveqmekek iqsnkgssyk llveqaklkq atskhfkdli rlrrtaewsr
     2281 snldtevtta kespeieplp ftlahercis vvqklvlfll smdftchadl llfvckvlar
     2341 ianatrptih lceivnepql erlllllvgt dfnrgdiswg gawaqysltc mlqdilagel
     2401 lapvaaeame egtvgddvga tagdsddslq qssvqlleti deplthditg applsslekd
     2461 keidlellqd lmevdidpld idlekdplaa kvfkpisstw ydywgadygt ynynpyiggl
     2521 gipvakppan tekngsqtvs vsvsqaldar levgleqqae lmlkmmstle adsilqaltn
     2581 tsptlsqspt gtddsllggl qaanqtsqli iqlssvpmln vcfnklfsml qvhhvqlesl
     2641 lqlwltlsln ssstgnkeng adiflynanr ipvislnqas itsfltvlaw ypntllrtwc
     2701 lvlhsltlmt nmqlnsgsss aigtqestah llvsdpnlih vlvkflsgts phgtnqhspq
     2761 vgptatqamq efltrlqvhl sstcpqifse fllklihils tergafqtgq gpldaqvkll
     2821 eftleqnfev vsvstisavi esvtflvhhy itcsdkvmsr sgsdssvgar acfgglfanl
     2881 irpgdakavc gemtrdqlmf dllklvnilv qlplsgnrey sarvsvttnt tdsvsdeekv
     2941 sggkdgngss tsvqgspayv adlvlanqqi msqilsalgl cnssamamii gasglhltkh
     3001 enfhggldai svgdglftil ttlskkastv hmmlqpilty macgymgrqg slatcqlsep
     3061 llwfilrvld tsdalkafhd mggvqlicnn mvtstraivn tarsmvstim kfldsgpnka
     3121 vdstlktril asepdnaegi hnfaplgtit sssptaqpae vllqatpphr rarsaawsyi
     3181 flpeeawcdl tihlpaavll keihiqphla slatcpssvs vevsadgvnm lplstpvvts
     3241 gltyikiqlv kaevasavcl rlhrprdast lglsqikllg ltafgttssa tvnnpflpse
     3301 dqvsktsigw lrllhhclth isdlegmmas aaaptanllq tcaallmspy cgmhspniev
     3361 vlvkiglqst riglklidil lrncaasgsd ptdlnspllf grlnglssds tidilyqlgt
     3421 tqdpgtkdri qallkwvsds arvaamkrsg rmnymcpnss tveygllmps pshlhcvaai
     3481 lwhsyellve ydlpalldqe lfellfnwsm slpcnmvlkk avdsllcsmc hvhpnyfsll
     3541 mgwmgitppp vqchhrlsmt ddskkqdlss sltddsknaq aplalteshl atlasssqsp
     3601 eaikqlldsg lpsllvrsla sfcfshisss esiaqsidis qdklrrhhvp qqcnkmpita
     3661 dlvapilrfl tevgnshimk dwlggsevnp lwtallfllc hsgstsgshn lgaqqtsars
     3721 aslssaattg lttqqrtaie natvafflqc ischpnnqkl maqvlcelfq tspqrgnlpt
     3781 sgnisgfirr lflqlmlede kvtmflqspc plykgrinat shviqhpmyg aghkfrtlhl
     3841 pvsttlsdvl drvsdtpsit akliseqkdd kekknheeke kvkaengfqd nysvvvasgl
     3901 ksqskravsa tpprppsrrg rtipdkigst sgaeaankii tvpvfhlfhk llagqplpae
     3961 mtlaqlltll ydrklpqgyr sidltvklgs rvitdpslsk tdsykrlhpe kdhgdllasc
     4021 pedealtpgd ecmdgildes lletcpiqsp lqvfagmggl aliaerlpml ypeviqqvsa
     4081 pvvtsttqek pkdsdqfewv tieqsgelvy eapetvaaep ppiksavqtm spipahslaa
     4141 fglflrlpgy aevllkerkh aqcllrlvlg vtddgegshi lqspsanvlp tlpfhvlrsl
     4201 fsttplttdd gvllrrmale igalhlilvc lsalshhspr vpnssvnqte pqvssshnpt
     4261 steeqqlywa kgtgfgtgst asgwdveqal tkqrleeehv tcllqvlasy inpvssavng
     4321 eaqsshetrg qnsnalpsvl lellsqscli pamssylrnd svldmarhvp lyrallellr
     4381 aiascaamvp lllplsteng eeeeeqsecq tsvgtllakm ktcvdtytnr lrskrenvkt
     4441 gvkpdasdqe pegltllvpd iqktaeivya attslrqanq ekklgeyskk aamkpkplsv
     4501 lksleekyva vmkklqfdtf emvsededgk lgfkvnyhym sqvknandan saararrlaq
     4561 eavtlstslp lsssssvfvr cdeerldimk vlitgpadtp yangcfefdv yfpqdypssp
     4621 plvnlettgg hsvrfnpnly ndgkvclsil ntwhgrpeek wnpqtssflq vlvsvqslil
     4681 vaepyfnepg yersrgtpsg tqssreydgn irqatvkwam leqirnpspc fkevihkhfy
     4741 lkrveimaqc eewiadiqqy ssdkrvgrtm shhaaalkrh taqlreellk lpcpegldpd
     4801 tddapevcra ttgaeetlmh dqvkpssske lpsdfql
//
LOCUS       XP_047296544             344 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-1,4-galactosyltransferase 5 isoform X1 [Homo sapiens].
ACCESSION   XP_047296544
VERSION     XP_047296544.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440588.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..344
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..344
                     /product="beta-1,4-galactosyltransferase 5 isoform X1"
                     /calculated_mol_wt=39908
     Region          117..333
                     /region_name="b4GalT"
                     /note="Beta-4-Galactosyltransferase is involved in the
                     formation of the poly-N-acetyllactosamine core structures
                     present in glycoproteins and glycosphingolipids; cd00899"
                     /db_xref="CDD:132999"
     Site            order(125,127,129,164,190..192)
                     /site_type="active"
                     /note="ligand binding site [active]"
                     /db_xref="CDD:132999"
     Site            order(190,192,285)
                     /site_type="active"
                     /note="metal binding site [active]"
                     /db_xref="CDD:132999"
     CDS             1..344
                     /gene="B4GALT5"
                     /gene_synonym="B4Gal-T5; BETA4-GALT-IV; beta4Gal-T5;
                     beta4GalT-V; gt-V"
                     /coded_by="XM_047440588.1:41..1075"
                     /db_xref="GeneID:9334"
                     /db_xref="HGNC:HGNC:928"
                     /db_xref="MIM:604016"
ORIGIN      
        1 mmqaqgilir dnvrtigaqv yeqvlrsaya krnssvndsd ypldlnhset flqtttflpe
       61 dftyfanhtc perlpsmkgp idinmseigm dyihelfskd ptiklgghwk psdcmprwkv
      121 ailipfrnrh ehlpvlfrhl lpmlqrqrlq fafyvveqvg tqpfnramlf nvgfqeamkd
      181 ldwdclifhd vdhipesdrn yygcgqmprh fatkldkymy llpyteffgg vsgltveqfr
      241 kingfpnafw gwggedddlw nrvqnagysv srpegdtgky ksiphhhrge vqflgryall
      301 rkskerqgld glnnlnyfan itydalykni tvnltpelaq vney
//
LOCUS       XP_024307918             278 aa            linear   PRI 20-MAR-2023
DEFINITION  complement C1q tumor necrosis factor-related protein 6 isoform X1
            [Homo sapiens].
ACCESSION   XP_024307918
VERSION     XP_024307918.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024452150.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..278
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..278
                     /product="complement C1q tumor necrosis factor-related
                     protein 6 isoform X1"
                     /calculated_mol_wt=30727
     Region          100..>138
                     /region_name="Collagen"
                     /note="Collagen triple helix repeat (20 copies);
                     pfam01391"
                     /db_xref="CDD:396114"
     Region          145..273
                     /region_name="C1q"
                     /note="C1q domain; pfam00386"
                     /db_xref="CDD:395310"
     CDS             1..278
                     /gene="C1QTNF6"
                     /gene_synonym="CTFP6; CTRP6; ZACRP6"
                     /coded_by="XM_024452150.2:418..1254"
                     /db_xref="GeneID:114904"
                     /db_xref="HGNC:HGNC:14343"
                     /db_xref="MIM:614910"
ORIGIN      
        1 mclleivesv arkcqrevtm gtaalgpvwa alllfllmce ipmveltfdr avasgcqrcc
       61 dsedpldpah vssasssgrp halpeirpyi nitilkgdkg dpgpmglpgy mgregpqgep
      121 gpqgskgdkg emgspgapcq krffafsvgr ktalhsgedf qtllfervfv nldgcfdmat
      181 gqfaaplrgi yffslnvhsw nyketyvhim hnqkeavily aqpsersimq sqsvmldlay
      241 gdrvwvrlfk rqrenaiysn dfdtyitfsg hlikaedd
//
LOCUS       XP_011528994             639 aa            linear   PRI 20-MAR-2023
DEFINITION  protein DENND6B isoform X1 [Homo sapiens].
ACCESSION   XP_011528994
VERSION     XP_011528994.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011530692.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..639
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..639
                     /product="protein DENND6B isoform X1"
                     /calculated_mol_wt=71926
     Region          201..>360
                     /region_name="DENN"
                     /note="DENN (AEX-3) domain; cl11519"
                     /db_xref="CDD:448293"
     Region          299..405
                     /region_name="SPA"
                     /note="Stabilization of polarity axis; cl40631"
                     /db_xref="CDD:454797"
     CDS             1..639
                     /gene="DENND6B"
                     /gene_synonym="AFI1B; FAM116B"
                     /coded_by="XM_011530692.4:25..1944"
                     /db_xref="GeneID:414918"
                     /db_xref="HGNC:HGNC:32690"
ORIGIN      
        1 mdallgtgpr rargclgaag ptssgraart paapwarfsa wlecvcvvtf dlelgqalel
       61 vypndfrltd kekssicyls fpdshsgclg dtqfsfrmrq cggqrspwha ddrhynsrap
      121 valqrepahy fgyvyfrqvk dssvkrgyfq kalgssptgr hpgssvlgfl lsnnsgvqvr
      181 rswgscpvkl vgratlgqlq slvlvsrlpf vrlfqallsl iapeyfdkla pcleavcsei
      241 dqwpapapgq tlnlpvmgvv vqvripsrvd ksessppkqf dqenllpapv vlasvheldl
      301 frcfrpvlth mqtlwelmll gepllvlaps pdvssemvla ltsclqplrf ccdfrpyfti
      361 hdsefkeftt rtqappnvvl gvtnpffikt lqhwphilrv gepkmsgdlp kqvklkkpsr
      421 lktldtkpgl ytaytahlhr dkallkrllk gvqkkrpsdv qsallrrhll eltqsfiipl
      481 ehymaslmpl qksitpwktp pqiqpfsqdd flrslehagp qltcilkgdw lglyrcvdcr
      541 rffksphfdg wyrqrhkema lklealhlea iceanietwm kdksevevvd lvlklreklv
      601 raqghqlpvk eatlqraqly ietvigslpk dlqavlcpp
//
LOCUS       XP_006724352             587 aa            linear   PRI 20-MAR-2023
DEFINITION  ran GTPase-activating protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_006724352
VERSION     XP_006724352.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006724289.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..587
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..587
                     /product="ran GTPase-activating protein 1 isoform X3"
                     /calculated_mol_wt=63411
     Region          21..358
                     /region_name="LRR_RI"
                     /note="Leucine-rich repeats (LRRs), ribonuclease inhibitor
                     (RI)-like subfamily. LRRs are 20-29 residue sequence
                     motifs present in many proteins that participate in
                     protein-protein interactions and have different functions
                     and cellular locations. LRRs correspond...; cd00116"
                     /db_xref="CDD:238064"
     Site            order(23,25,28,30,51,54,56,59,61,79,82,84,87,89,114,117,
                     119,122,124,144,147,149,152,154,182,185,187,190,192,210,
                     213,215,218,220,238,241,243,246,248,266,269,271,274,276,
                     295,298,300,303,305,323,326,328,331,333,351,354,356)
                     /site_type="active"
                     /note="Leucine-rich repeats [active]"
                     /db_xref="CDD:238064"
     Region          51..81
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Site            order(57..58,121,189,217,273,299,301,327,355)
                     /site_type="other"
                     /note="Substrate binding site [chemical binding]"
                     /db_xref="CDD:238064"
     Region          82..113
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          114..143
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          144..171
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          182..209
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          210..237
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          238..265
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          266..294
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          405..585
                     /region_name="RanGAP1_C"
                     /note="RanGAP1 C-terminal domain; pfam07834"
                     /db_xref="CDD:429686"
     CDS             1..587
                     /gene="RANGAP1"
                     /gene_synonym="Fug1; RANGAP; SD"
                     /coded_by="XM_006724289.5:141..1904"
                     /db_xref="GeneID:5905"
                     /db_xref="HGNC:HGNC:9854"
                     /db_xref="MIM:602362"
ORIGIN      
        1 masediakla etlaktqvag gqlsfkgksl klntaedakd vikeiedfds lealrlegnt
       61 vgveaarvia kalekkselk rchwsdmftg rlrteippal islgeglita gaqlveldls
      121 dnafgpdgvq gfeallkssa cftlqelkln ncgmgigggk ilaaaltech rkssaqgkpl
      181 alkvfvagrn rlendgatal aeafrvigtl eevhmpqngi nhpgitalaq afavnpllrv
      241 inlndntfte kgavamaetl ktlrqvevin fgdclvrskg avaiadairg glpklkelnl
      301 sfceikrdaa lavaeamadk aelekldlng ntlgeegceq lqevlegfnm akvlaslsdd
      361 edeeeeeege eeeeeaeeee eedeeeeeee eeeeeeepqq rgqgeksatp srkildpntg
      421 epapvlsspp padvstflaf pspekllrlg pkssvliaqq tdtsdpekvv saflkvssvf
      481 kdeatvrmav qdavdalmqk afnsssfnsn tfltrllvhm gllksedkvk aianlygplm
      541 alnhmvqqdy fpkalaplll afvtkpnsal escsfarhsl lqtlykv
//
LOCUS       XP_006724409            1806 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein KIAA1671 isoform X1 [Homo sapiens].
ACCESSION   XP_006724409
VERSION     XP_006724409.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006724346.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1806
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..1806
                     /product="uncharacterized protein KIAA1671 isoform X1"
                     /calculated_mol_wt=196581
     Region          <36..271
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1628..1797
                     /region_name="Tankyrase_bdg_C"
                     /note="Tankyrase binding protein C terminal domain;
                     pfam15327"
                     /db_xref="CDD:434637"
     CDS             1..1806
                     /gene="KIAA1671"
                     /coded_by="XM_006724346.3:398..5818"
                     /db_xref="GeneID:85379"
                     /db_xref="HGNC:HGNC:29345"
ORIGIN      
        1 matrvevgsi tpltavpglg emgkeetltr tyflqageas gapparilea ksplrsparl
       61 lplprlapkp fskeqdvksp vpslrpsstg pspsgglsee paakdldnrm pglvgqevgs
      121 gegprtsspl fnkavflrps sstmilfett ksgpalgkav segaeeaklg vsgsrpevaa
      181 kpalptqkpa gtlprsapls qdtkppvpqe eagqdhppsk assvedtarp lveprprlkr
      241 rpvsaiftes iqpqkpgpga aatvgkvppt ppektwvrkp rplsmdltar fenkeallrk
      301 vadegsgpta gdmaglerpr aaskldrdcl vkaeaplhdp dldflevakk irerkekmls
      361 kpemgspral vggssgvtps ndqspweeka kldpepekaa espsprlgrg lelaevksrv
      421 adgeaaagge wasrrsvrkc islfredstl alavgsespl atpaspsaap epekgvvsvq
      481 erirgwtaes seakpevrrr tfqarplsad ltklfsssas snevkyeksa elsgefpkep
      541 rekqkeghsl dgaciprspw kpgtlrdksr qteqkvssnq dpdscrggss veapcpsdvt
      601 peddrsfqtv watvfehhve rhtvadqsgr clsttppgdm aharvseprp rpemgswlgr
      661 dppdmtklkk ensrgfdnpe teklgpttll ngelrpyhtp lrdkyplsen hnnntflkhl
      721 enpptsqrie prydivhavg ervhseaisp apeekavtlr slrswlslkd rqlsqevtpa
      781 dlecglegqa gsvqrasliw eargmpeasg pkfggncpfp kwtggavvss hkatvavsee
      841 hcapgatsvr aikaaiwesq hegpegarsk pgvgargppq gcpldplsra tngpsdsqar
      901 thpdafavqk gpfivaareg dpgpaqvpqp avrmrkagam dqrmdrwrrr tlppnvkfdt
      961 fsslvpedsp hvghrrtdyv sptasalrkp qlshyrvetq evnpgasrdq tspavkqgsp
     1021 vepkatffav tyqipntqka kgvvlsgaes llehsrkitp pssphsltst lvslgheeal
     1081 emagsknwmk grehenasil ktlkptdrps slgawsldpf ngriidvdal wshrgsedgp
     1141 rpqsnwkesa nkmspsggap qttptlrsrp kdlpvrrktd visdtfpgki rdgyrssvld
     1201 idalmaeyqe lslkvpgeaq errsptveps tlprerpvql ggveqrrrsl kempdtgglw
     1261 kpassaeinh sftpglgkql aetletamgt kssppfwalp psapserypg gspipadprk
     1321 ktgfaeddrk afaskhhvak cqnylaeskp sgredpgsgv rvspkspptd qkkgtprkst
     1381 grgeedsvaq wgdhprdcgr vpldikrays ekgppanire glsimheare rrreqpkgrp
     1441 sltgenleak mgpcwwesgt gdshkvlprd lekedapqek erplqqvspv asvpwrshsf
     1501 ckdrrsgpfv dqlkqcfsrq ptepkdtdtl vheagsqygt wteqcqsges latespdssa
     1561 tstrkqppss rlsslssqte ptsagdqydc srdqrstsvd hsstdlestd gmegppppda
     1621 cpekrvddfs fidqtsvlds salktrvqls krsrrrapis hslrrsrfse sesrsplede
     1681 tdntwmfkds teeksprkee sdeeetaska ertpvshpqr mpafpgmdpa vlkaqlhkrp
     1741 evdspgetps wapqpkspks pfqpgvlgsr vlpssmdkde rsdepspqwl kelkskkrqs
     1801 lyenqv
//
LOCUS       XP_011511038             171 aa            linear   PRI 20-MAR-2023
DEFINITION  tumor protein p63-regulated gene 1 protein isoform X6 [Homo
            sapiens].
ACCESSION   XP_011511038
VERSION     XP_011511038.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011512736.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..171
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..171
                     /product="tumor protein p63-regulated gene 1 protein
                     isoform X6"
                     /calculated_mol_wt=19460
     Region          78..>109
                     /region_name="hSac2"
                     /note="Inositol phosphatase; pfam12456"
                     /db_xref="CDD:432566"
     CDS             1..171
                     /gene="TPRG1"
                     /gene_synonym="FAM79B"
                     /coded_by="XM_011512736.4:5475..5990"
                     /db_xref="GeneID:285386"
                     /db_xref="HGNC:HGNC:24759"
ORIGIN      
        1 mrisqaeems tigsfegfqa vslkqegddq psetdhlsme eedpmprqis rqssvtestl
       61 ypnpyhqpyi srkyfatrpg aietamedlk ghvaetsget iqgfwlltnt prqgkakttt
      121 mrtqkqksql pqqqpqnkkt kenkqtcrpr kvracnyswl lashlfssye l
//
LOCUS       XP_024309299             895 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA replication licensing factor MCM2 isoform X1 [Homo sapiens].
ACCESSION   XP_024309299
VERSION     XP_024309299.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453531.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..895
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..895
                     /product="DNA replication licensing factor MCM2 isoform
                     X1"
                     /calculated_mol_wt=100795
     Region          64..173
                     /region_name="MCM2_N"
                     /note="Mini-chromosome maintenance protein 2; pfam12619"
                     /db_xref="CDD:403724"
     Region          188..278
                     /region_name="MCM_N"
                     /note="MCM N-terminal domain; pfam14551"
                     /db_xref="CDD:434034"
     Region          282..794
                     /region_name="MCM"
                     /note="minichromosome maintenance proteins; smart00350"
                     /db_xref="CDD:214631"
     CDS             1..895
                     /gene="MCM2"
                     /gene_synonym="BM28; CCNL1; cdc19; CDCL1; D3S3194; DFNA70;
                     MITOTIN"
                     /coded_by="XM_024453531.2:46..2733"
                     /db_xref="GeneID:4171"
                     /db_xref="HGNC:HGNC:6944"
                     /db_xref="MIM:116945"
ORIGIN      
        1 masspaqrrr gndpltsspg rssrrtdalt sspgrdlppf edesegllgt egpleeeedg
       61 eeligdgmer dyraipelda yeaeglaldd edveeltasq reaaeramrq rdreagrglg
      121 rmrrgllyds deedeerpar krrqverate dgeedeemie sienledlkg hsvrewvsma
      181 gprleihhrf knflrthvds hghnvfkeri sdmckenres lvvnyedlaa rehvlayflp
      241 eapaellqif deaalevvla mypkydritn hihvrishlp lveelrslrq lhlnqlirts
      301 gvvtsctgvl pqlsmvkync nkcnfvlgpf cqsqnqevkp gscpecqsag pfevnmeeti
      361 yqnyqririq espgkvaagr lprskdaill adlvdsckpg deieltgiyh nnydgslnta
      421 ngfpvfatvi lanhvakkdn kvavgeltde dvkmitslsk dqqigekifa siapsiyghe
      481 dikrglalal fggepknpgg khkvrgdinv llcgdpgtak sqflkyiekv ssraifttgq
      541 gasavgltay vqrhpvsrew tleagalvla drgvclidef dkmndqdrts iheameqqsi
      601 siskagivts lqarctviaa anpiggrydp sltfsenvdl tepiisrfdi lcvvrdtvdp
      661 vqdemlarfv vgshvrhhps nkeeeglang saaepampnt ygveplpqev lkkyiiyake
      721 rvhpklnqmd qdkvakmysd lrkesmatgs ipitvrhies mirmaeahar ihlrdyvied
      781 dvnmairvml esfidtqkfs vmrsmrktfa rylsfrrdnn elllfilkql vaeqvtyqrn
      841 rfgaqqdtie vpekdlvdka rqinihnlsa fydselfrmn kfshdlkrkm ilqqf
//
LOCUS       XP_011511450             879 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger B-box domain-containing protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_011511450
VERSION     XP_011511450.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011513148.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Jun 6, 2016 this sequence version replaced XP_011511450.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..879
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..879
                     /product="zinc finger B-box domain-containing protein 1
                     isoform X2"
                     /calculated_mol_wt=100288
     Region          133..175
                     /region_name="Bbox1_ZBBX"
                     /note="B-box-type 1 zinc finger found in zinc finger B-box
                     domain-containing protein 1 (ZBBX) and similar proteins;
                     cd19818"
                     /db_xref="CDD:380876"
     Site            order(134,137,146,149,154,157,162,170)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:380876"
     CDS             1..879
                     /gene="ZBBX"
                     /coded_by="XM_011513148.3:446..3085"
                     /db_xref="GeneID:79740"
                     /db_xref="HGNC:HGNC:26245"
ORIGIN      
        1 mnrkdfvvlp wgkpgnsvkl kyrnaqelrm ekvqlefenq emekklqefr strnkekedr
       61 esseyywksg kvgklvnqsy mmsqnkgnvv kfsagkvklk llkeqiqepv kptvnykman
      121 ssecekpkin gkvcgqcenk aallvclecg edycsgcfak vhqkgalklh rttllqaksq
      181 ilfnvldvah qfikdvnpde pkeennstke tskiqhkpks vllqrsssev eittmkraqr
      241 tkprksllce gsfdeeasaq sfqevlsqwr tgnhddnkkq nlhaavkdsl eecevqtnlk
      301 iwreplniel kedilsymek lwlkkhrrtp qeqlfkmlpd tfphphettg daqcsqnend
      361 edsdgeetkv qhtalllpve tlnierpeps lkivelddty eeefeeaeni vpykvklada
      421 dsqrscafhd cqknsfpyen gihqhhvfdk gkrdflnlcl rnsstyykdn sketsntdfd
      481 nivdpdvyss diekieests fernlkekni glesnqksdd scvsleskdt llgrdlekap
      541 ieeklsqdik eslelsnlyk rpsfeesktt ksslllqeia crskpitkqy qglerffifd
      601 tnerlnllps hrlecnnsst ritlaedrew ipdhslseya dnaivlgvlq gaqspsssrk
      661 qqkmganmlk kptkstfktg qksqrpstan fplsnsvkes ssclssshpr srsaaaqsss
      721 raaseiseie yiditdqnel slddttdqht ldnlekelqv lrsladtsek lysltseefp
      781 dfssqslnis qistdflkts hvrgpcgvee lscsgrdtki qsllslsess tdeeeedfln
      841 kqhvitlpws krllfaaple eecvcfpfhh dflrppppc
//
LOCUS       XP_011532591            2970 aa            linear   PRI 20-MAR-2023
DEFINITION  TPR and ankyrin repeat-containing protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011532591
VERSION     XP_011532591.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534289.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2970
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..2970
                     /product="TPR and ankyrin repeat-containing protein 1
                     isoform X1"
                     /calculated_mol_wt=341082
     Region          <14..>121
                     /region_name="3a0801s09"
                     /note="mitochondrial precursor proteins import receptor
                     (72 kDa mitochondrial outermembrane protein)
                     (mitochondrial import receptor for the ADP/ATP carrier)
                     (translocase of outermembrane tom70); TIGR00990"
                     /db_xref="CDD:273380"
     Region          16..44
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(17,20..21,24..25,27,61,64..65,68..69,71..72,95,
                     98..99,102..103,106)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          59..89
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          94..122
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          225..>396
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          247..283
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          285..323
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(518..520,522..523,527,530,539,542,544,548,551..553,
                     555..556,568,571,589,591,593,597..598,601..603,605..606,
                     610,613)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          542..589
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..2970
                     /gene="TRANK1"
                     /gene_synonym="LBA1"
                     /coded_by="XM_011534289.3:1052..9964"
                     /db_xref="GeneID:9881"
                     /db_xref="HGNC:HGNC:29011"
                     /db_xref="MIM:619316"
ORIGIN      
        1 mllagssswm dltayaellk esgnqvlkng nfslairkyd eaiqillqly qwgvpprdla
       61 vllcnksnaf fslgkwneaf vaakeclqwd ptyvkgyyra gysllrlhqp yeaarmffeg
      121 lrlvqrsqdq apvadflvgv fttmssdsiv lqsflpcfdh ifttgfptev wqsvieklak
      181 kglwhsflll sakkdrlprn ihvpelslks lfekyvfigl yekmeqvpkl vqwlisigas
      241 vetigpyplh almrlciqar enhlfrwlmd hkpewkgrin qkdgdgctvl hvvaahspgy
      301 lvkrqtedvq mllrfgadpt lldrqsrsvv dvlkrnknfk aiekinshle klatcskdls
      361 gfsngdgpts endifrkvle qlvkymnsgn rllhknflkq evvqrflrll stlqeippdl
      421 vcdinqdcat tvfkfllekq rwpevllllt rkvsgepplg dclikdcnfs dldictiiph
      481 lstwdqrkkq llgclidsga lpdglqesqe rpvvtclkhe dfelaflllt kgadpraisl
      541 tegdtplhaa lhifleikad igfsflshll dlfwsnptef dylnpnvqds ngntlmhilf
      601 qkgmlkrvkk lldllvkfdi nfnlknkegk darhrikknd slllawnkal menrrrsrqd
      661 saahlgklsk stapghtsql ksqgsfksvp cgatartlpe gsavpdswet lpgtqvtrke
      721 pgalrpcslr dclmqditvl iqqvevdpsf pedclqssep leagagkegk kddkptlgag
      781 apdcsevgeg haqvglgalq lvpddnrgke gnddqddwst qeieaclqdf dnmtweiect
      841 semlkklssk vmtkvikkki ilaiqqlgng ewtqglqkrl khlkgsiqlf eakldkgarm
      901 lwelaidfsp rcsenpekii ateqntcame ksgriyteii riwdivldhc kladsikaic
      961 naynrglscv lrkklkgink gqvsanmkiq kriprcyved teaekgrehv npeyfppasa
     1021 veteynimkf hsfstnmafn ilndttatve ypfrvgeley avidlnprpl epiiligrsg
     1081 tgkttcclyr lwkkfhvywe kaeqagspll akqvwlkrrl evepgkespg geeeeeeede
     1141 eeedsievet vesideqeye acaggagvep agdgqaaevc apehphqleh lhqifvtknh
     1201 vlcqevqrnf ielskstkat shykpldpni hklqdlrden fplfvtskql lllldaslpk
     1261 pfflrnedgs lkrtiigwsa qeestipswq edeeeaevdg dyseedkave mrtgdsdprv
     1321 yvtfevfkne iwpkmtkgrt aynpaliwke iksflkgsfe alscphgrlt eevykklgrk
     1381 rcpnfkedrs eiyslfslyq qirsqkgyfd eedvlynisr rlsklrvlpw sihelygdei
     1441 qdftqaelal lmkcindpns mfltgdtaqs imkgvafrfs dlrslfhyas rntidkqcav
     1501 rkpkkihqly qnyrshsgil nlasgvvdll qfyfpesfdr lprdsglfdg pkptvlescs
     1561 vsdlaillrg nkrktqpief gahqvilvan etakekipee lglalvltiy eakglefddv
     1621 llynfftdse aykewkiiss ftptstdsre enrplvevpl dkpgssqgrs lmvnpemykl
     1681 lngelkqlyt aitrarvnlw ifdenrekra pafkyfirrd fvqvvktden kdfddsmfvk
     1741 tstpaewiaq gdyyakhqcw kvaakcyqkg gafekeklal ahdtalsmks kkvspkekql
     1801 eylelaktyl eckeptlslk clsyakefql saqlcerlgk irdaayfykr sqcykdafrc
     1861 feqiqefdla lkmycqeelf eeaaiaveky eemlktktlp isklsysasq fyleaaakyl
     1921 sankmkemma vlskldiedq lvflksrkrl aeaadllnre grreeaallm kqhgclleaa
     1981 rltadkdfqa scllgaarln vardsdieht kdilrealdi cyqtgqlsgi aeahflqgvi
     2041 lrdfqklrda ffkfdtlnhs agvvealyea asqceaepek ilglapggle illslvralk
     2101 rvtnnaekem vkscfeffgi sqvdakycqi aqndpgpilr iifdldlnlr ekktkdhfli
     2161 mtdqvklaln khllgrlcqi trsllgktyr gvcmrfivgl kcedencehf hrplrrceak
     2221 clvqskmnlv aingllleak kvfpkilaee lkeidyilst dmyglcksil dvlfpkhfhq
     2281 rvlsenpmac keilkpnyks frfyrfalke yihflfenes arnrrestdl wlsamqafll
     2341 ssnypeefek llhqeednyn relkalesek dergrgrgsr ikgiegkfgm lapnrddenm
     2401 dkthlcfirl lencidqfyv yrnpedykrl ffrfmnvlik rckeplipsi gntvallefq
     2461 fihcgvvlar lwknvilclp ksyiallhyw eflfskkdke lgdvfsiiqe ykpkdvtrai
     2521 qdfrfhlsyl akvlcgyenv nfnvlldafs eidyvvsgea ertlvlclvm lvnaeeilqp
     2581 yckpllyrhf reiesrlqlm smdcpgqvpe rllkvvkrvl vavnvksvae alqdllferd
     2641 eeylmdcdwr wdpvhtkgsi vrglyyeevr lnrllcldpv dyfaepecef gqdemdelal
     2701 edrdhvlati lsqkqrkasi qrklrraclv vslciswrrr vgtqmervre earepragnf
     2761 kkadvdrtqc dlcgvkftrg penyfspska fegaasevav lsraeleree cqernsesye
     2821 qhihlehhqr qqvayqkyse ffhekvdpai degklvvqdi eqsvwihshv gskehshmlq
     2881 kvqehikrvs dmvedlyrrk awagaeeamt rlvnililsv rdardwlmkt etrlkkegiv
     2941 qeddyeneve dfgelrprrr srkcgkqrky
//
LOCUS       XP_024309655             662 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-adducin isoform X5 [Homo sapiens].
ACCESSION   XP_024309655
VERSION     XP_024309655.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453887.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..662
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..662
                     /product="alpha-adducin isoform X5"
                     /calculated_mol_wt=73202
     Region          145..391
                     /region_name="Aldolase_II"
                     /note="Class II Aldolase and Adducin head (N-terminal)
                     domain. Aldolases are ubiquitous enzymes catalyzing
                     central steps of carbohydrate metabolism. Based on
                     enzymatic mechanisms, this superfamily has been divided
                     into two distinct classes (Class I and II); cl00214"
                     /db_xref="CDD:444755"
     Site            order(151,155,163,188,190..191,241,243..244,249..251,259,
                     261..262,273,301,312,319,323,330,348)
                     /site_type="other"
                     /note="intersubunit interface [polypeptide binding]"
                     /db_xref="CDD:238232"
     Site            order(168,185..186,211..213,239,241,302)
                     /site_type="active"
                     /db_xref="CDD:238232"
     Site            order(239,241,302)
                     /site_type="other"
                     /note="Zn2+ binding site [ion binding]"
                     /db_xref="CDD:238232"
     CDS             1..662
                     /gene="ADD1"
                     /gene_synonym="ADDA"
                     /coded_by="XM_024453887.2:300..2288"
                     /db_xref="GeneID:118"
                     /db_xref="HGNC:HGNC:243"
                     /db_xref="MIM:102680"
ORIGIN      
        1 mngdsraavv tspppttaph keryfdrvde nnpeylrern mapdlrqdfn mmeqkkrvsm
       61 ilqspafcee lesmiqeqfk kgknptglla lqqiadfmtt nvpnvypaap qggmaalnms
      121 lgmvtpvndl rgsdsiaydk gekllrckla afyrladlfg wsqliynhit trvnseqehf
      181 livpfgllys evtasslvki nlqgdivdrg stnlgvnqag ftlhsaiyaa rpdvkcvvhi
      241 htpagaavsa mkcgllpisp ealslgevay hdyhgilvde eekvliqknl gpkskvlilr
      301 nhglvsvges veeafyyihn lvvaceiqvr tlasaggpdn lvllnpekyk aksrspgspv
      361 gegtgsppkw qigeqefeal mrmldnlgyr tgypyrypal rekskkysdv evpasvtgys
      421 fasdgdsgtc splrhsfqkq qrektrwlns grgdeaseeg qngsspkskt kvwtnithdh
      481 vkpllqslss gvcvpscitn clwtkedghr tstsavpnlf vplntnpkev qemrnkireq
      541 nlqdiktagp qsqvlcgvvm drslvqgelv taskaiieke yqphvivstt gpnpfttltd
      601 releeyrrev erkqkgseen ldeareqkek sppdqpavph pppstpikle egdgcareyl
      661 lp
//
LOCUS       XP_047271820             282 aa            linear   PRI 20-MAR-2023
DEFINITION  odontogenic ameloblast-associated protein isoform X2 [Homo
            sapiens].
ACCESSION   XP_047271820
VERSION     XP_047271820.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047415864.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..282
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..282
                     /product="odontogenic ameloblast-associated protein
                     isoform X2"
                     /calculated_mol_wt=31241
     Region          54..282
                     /region_name="ODAM"
                     /note="Odontogenic ameloblast-associated family;
                     pfam15424"
                     /db_xref="CDD:434706"
     CDS             1..282
                     /gene="ODAM"
                     /gene_synonym="APIN"
                     /coded_by="XM_047415864.1:34..882"
                     /db_xref="GeneID:54959"
                     /db_xref="HGNC:HGNC:26043"
                     /db_xref="MIM:614843"
ORIGIN      
        1 mvqiflfrsr skiyhtkmki iillgflgat lsaplllnln ngqllplqlq gplnswippf
       61 sgilqqqqqa qipglsqfsl saldqfagll pnqipltgea sfaqgaqagq vdplqlqtpp
      121 qtqpgpshvm pyvfsfkmpq eqgqmfqyyp vymvlpweqp qqtvprspqq trqqqyeeqi
      181 pfyaqfgyip qlaepaisgg qqqlafdpql gtapeiavms tgeeipylqk eainfrhdsa
      241 gvfmpstspk psttnvftsa vdqtitpelp eekdktdslr ep
//
LOCUS       XP_011512290             550 aa            linear   PRI 20-MAR-2023
DEFINITION  UDP-glucuronosyltransferase 3A2 isoform X1 [Homo sapiens].
ACCESSION   XP_011512290
VERSION     XP_011512290.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011513988.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..550
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..550
                     /product="UDP-glucuronosyltransferase 3A2 isoform X1"
                     /calculated_mol_wt=62460
     Region          23..518
                     /region_name="Glycosyltransferase_GTB-type"
                     /note="glycosyltransferase family 1 and related proteins
                     with GTB topology; cl10013"
                     /db_xref="CDD:447877"
     Site            order(34..35,37,223,226..227,231,270,329,396,398,400..401,
                     404)
                     /site_type="active"
                     /db_xref="CDD:340817"
     Site            order(34,329,396,398,400..401)
                     /site_type="active"
                     /note="TDP-binding site [active]"
                     /db_xref="CDD:340817"
     Site            35
                     /site_type="active"
                     /note="acceptor substrate-binding pocket [active]"
                     /db_xref="CDD:340817"
     CDS             1..550
                     /gene="UGT3A2"
                     /coded_by="XM_011513988.2:94..1746"
                     /db_xref="GeneID:167127"
                     /db_xref="HGNC:HGNC:27266"
                     /db_xref="MIM:616384"
ORIGIN      
        1 magqrvlllv gfllpgvlls eaakiltist vggshyllmd rvsqilqdhg hnvtmlnhkr
       61 gpfmpglsds pasasrypri lylqkycqfg lkdfkkeeks yqviswlape dhqrefkksf
      121 dffleetlgg rgkfenllnv leylalqcsh flnrkdimds lknenfdmvi vetfdycpfl
      181 iaeklgkpfv ailstsfgsl efglpiplsy vpvfrslltd hmdfwgrvkn flmffsfcrr
      241 qqhmqstfdn tikehftegs rpvlshlllk aelwfinsdf afdfarpllp ntvyvgglme
      301 kpikpvpqdl enfiakfgds gfvlvtlgsm vntcqnpeif kemnnafahl pqgviwkcqc
      361 shwpkdvhla anvkivdwlp qsdllahpsi rlfvthggqn simeaiqhgv pmvgiplfgd
      421 qpenmvrvea kkfgvsiqlk klkaetlalk mkqimedkry ksaavaasvi lrshplsptq
      481 rlvgwidhvl qtggathlkp yvfqqpwheq ylldvfvfll gltlgtlwlc gkllgmavww
      541 lrgarkvket
//
LOCUS       XP_006714567             257 aa            linear   PRI 20-MAR-2023
DEFINITION  ropporin-1-like protein isoform X1 [Homo sapiens].
ACCESSION   XP_006714567
VERSION     XP_006714567.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006714504.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..257
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..257
                     /product="ropporin-1-like protein isoform X1"
                     /calculated_mol_wt=29032
     Region          10..52
                     /region_name="DD_ROP"
                     /note="dimerization/docking (D/D) domain found in
                     ropporins; cd23019"
                     /db_xref="CDD:438555"
     Site            order(13..14,16,18..19,22..23,26..27,30..31,34,38..40,
                     42..43,46..47,49..50)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:438555"
     Site            order(15,19..20,23..24,27..28,31..32)
                     /site_type="other"
                     /note="putative AKAP interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:438555"
     CDS             1..257
                     /gene="ROPN1L"
                     /gene_synonym="ASP; RSPH11"
                     /coded_by="XM_006714504.4:167..940"
                     /db_xref="GeneID:83853"
                     /db_xref="HGNC:HGNC:24060"
                     /db_xref="MIM:611756"
ORIGIN      
        1 mplpdtmfca qqihippelp dilkqftkaa irtqpadvlr wsagyfsals rgdplpvkdr
       61 memptatqkt dtgltqgllk vlhkqchhkr yveltdleqk wknlclpkek fkallqldpc
      121 enkikwinfl algcsmlggs lntalkhlce iltddpeggp aripfktfsy vyrylarlds
      181 dvspletesy laslkenmir mgaqawlrhp tslgrhhlfa sprlfaasek tiwnkrrvrp
      241 atvvhaynps tlggrgr
//
LOCUS       XP_016866299             435 aa            linear   PRI 20-MAR-2023
DEFINITION  HLA class I histocompatibility antigen, alpha chain F isoform X4
            [Homo sapiens].
ACCESSION   XP_016866299
VERSION     XP_016866299.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017010810.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..435
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..435
                     /product="HLA class I histocompatibility antigen, alpha
                     chain F isoform X4"
                     /calculated_mol_wt=48857
     Region          22..200
                     /region_name="MHC_I"
                     /note="Class I Histocompatibility antigen, domains alpha 1
                     and 2; pfam00129"
                     /db_xref="CDD:395078"
     Region          201..298
                     /region_name="IgC1_MHC_Ia_HLA-F"
                     /note="Class Ib major histocompatibility complex (MHC)
                     immunoglobulin domain of human leukocyte antigen (HLA) F;
                     member of the C1-set of Ig superfamily (IgSF) domains;
                     cd21023"
                     /db_xref="CDD:409614"
     Region          205..295
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409614"
     Region          205..213
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409614"
     Region          221..230
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409614"
     Region          234..239
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409614"
     Region          242..245
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409614"
     Region          249..257
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409614"
     Region          260..270
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409614"
     Region          277..284
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409614"
     CDS             1..435
                     /gene="HLA-F"
                     /gene_synonym="CDA12; HLA-5.4; HLA-CDA12; HLAF"
                     /coded_by="XM_017010810.1:31..1338"
                     /db_xref="GeneID:3134"
                     /db_xref="HGNC:HGNC:4963"
                     /db_xref="MIM:143110"
ORIGIN      
        1 maprslllll sgalaltdtw agshslryfs tavsrpgrge pryiaveyvd dtqflrfdsd
       61 aaiprmepre pwveqegpqy wewttgyaka naqtdrvalr nllrrynqse agshtlqgmn
      121 gcdmgpdgrl lrgyhqhayd gkdyislned lrswtaadtv aqitqrfyea eeyaeefrty
      181 legeclellr rylengketl qradppkahv ahhpisdhea tlrcwalgfy paeitltwqr
      241 dgeeqtqdte lvetrpagdg tfqkwaavvv ppgeeqrytc hvqheglpqp lilrweqspq
      301 ptipivgiva glvvlgavvt gavvaavmwr kkssdrnrgs ysqaaaysvv sgnlmitwws
      361 slfllgvlfq gylgclrshs vlgrrkaqll svstsqtsil iqeqfshqrt lamsgkmfcc
      421 hdwseeevlp ascge
//
LOCUS       XP_011514792             772 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 136 isoform X14 [Homo
            sapiens].
ACCESSION   XP_011514792
VERSION     XP_011514792.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011516490.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..772
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..772
                     /product="coiled-coil domain-containing protein 136
                     isoform X14"
                     /calculated_mol_wt=88654
     Region          <84..451
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          346..>622
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..772
                     /gene="CCDC136"
                     /gene_synonym="NAG6"
                     /coded_by="XM_011516490.3:57..2375"
                     /db_xref="GeneID:64753"
                     /db_xref="HGNC:HGNC:22225"
                     /db_xref="MIM:611902"
ORIGIN      
        1 meagagagag aagwscpgpg ptvttlgsye asegcerkkg qrwgslerrg mqamegevll
       61 palyeeeeee eeeeeeveee eeqvqkggsv gslsvnkhrg lsltetelee lraqvlqlva
      121 eleetrelag qheddslelq gllederlas aqqaevftkq iqqlqgelrs lreeislleh
      181 ekeselkeie qelhlaqaei qslrqaaeds atehesdias lqedlcrmqn eledmerirg
      241 dyemeiaslr aememkssep sgslglsdys glqeelqelr eryhflneey ralqesnssl
      301 tgqladlese rtqraterwl qsqtlsmtsa esqtsemdfl epdpemqllr qqlrdaeeqm
      361 hgmknkcqel cceleelqhh rqvseeeqrr lqrelkcaqn evlrfqtshs vtqneelksr
      421 lctlqkkydt sqdeqnellk mqlqlqtelr qlkvmkstlv enqsekellc rlqklhlqhq
      481 nvtcekekll erqqqlqeel qcheaelqhl rdtvasfkes nekdtethaq lqemkqlyqa
      541 skdelerqkh mydqleqdll lcqlelkelk ashpipedkg kcankcdtll srltelqeky
      601 kasqkemgql qmeqcelled qrrmqeeqgq lqeelhrltl plpksglllk sqelltkled
      661 lcelqllyqg mqeeqkkliq nqdcvlkeql eiheelrrfk eshfqevlen pddsklakss
      721 kcnrnkissw tsaakkpgpt cpearfriga gdtgtntiqa ahgadagpag dv
//
LOCUS       XP_047276749             403 aa            linear   PRI 20-MAR-2023
DEFINITION  speedy protein E6 isoform X1 [Homo sapiens].
ACCESSION   XP_047276749
VERSION     XP_047276749.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420793.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..403
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..403
                     /product="speedy protein E6 isoform X1"
                     /calculated_mol_wt=47566
     Region          194..303
                     /region_name="Spy1"
                     /note="Cell cycle regulatory protein; pfam11357"
                     /db_xref="CDD:431838"
     CDS             1..403
                     /gene="SPDYE6"
                     /coded_by="XM_047420793.1:422..1633"
                     /db_xref="GeneID:729597"
                     /db_xref="HGNC:HGNC:35465"
ORIGIN      
        1 mdrtetrfrk rgqitgkitt srqphpqneq spqrstsgyp lqevvddeml gpsapgvdps
       61 ppcrslgwkr krewsdesee epekelapep eetwvvemlc glkmklkqqr vssilpehhk
      121 dfnsqlapgv dpspphrsfc wkrkmewwde seesleeepr kvlapepeei wvaemlcglk
      181 mklkrrrvsl vlpehheafn rlledpvikr flawdkdlrv sdkyllamvi ayfsragfps
      241 wqyqrihffl alylandmee ddedskqnif hflyrknrsr ipllrkrwfq lghsmnprar
      301 knrsripllr krrfqlyrst nprarknrsr ipllrkhrfq lyrsmnsrar knrsqivlfq
      361 krrfhffcsm scrawvspee leevsgawgg ggggeelggl eag
//
LOCUS       XP_006715838             464 aa            linear   PRI 20-MAR-2023
DEFINITION  succinate--hydroxymethylglutarate CoA-transferase isoform X2 [Homo
            sapiens].
ACCESSION   XP_006715838
VERSION     XP_006715838.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006715775.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_006715838.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..464
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..464
                     /product="succinate--hydroxymethylglutarate
                     CoA-transferase isoform X2"
                     /calculated_mol_wt=50620
     Region          39..458
                     /region_name="CaiB"
                     /note="Crotonobetainyl-CoA:carnitine CoA-transferase CaiB
                     and related acyl-CoA transferases [Lipid transport and
                     metabolism]; COG1804"
                     /db_xref="CDD:224717"
     CDS             1..464
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /coded_by="XM_006715775.4:17..1411"
                     /db_xref="GeneID:79783"
                     /db_xref="HGNC:HGNC:16001"
                     /db_xref="MIM:609187"
ORIGIN      
        1 mlatlarvaa lrrtclfsgr gggrglwtgr pqsdmnnikp legvkildlt rvlagpfatm
       61 nlgdlgaevi kverpgagdd trtwgppfvg testyylsvn rnkksiavni kdpkgvkiik
      121 elaavcdvfv enyvpgklsa mglgyedide iaphiiycsi tgygqtgpis qragydavas
      181 avsglmhitg pengdpvrpg vamtdlatgl yaygaimagl iqkyktgkgl fidcnllssq
      241 vaclshiaan yligqkeakr wgtahgsivp yqafktkdgy ivvgagnnqq fatvckildl
      301 pelidnskyk tnhlrvhnrk elikilserf eeeltskwly lfegsgvpyg pinnmknvfa
      361 epqvqsvewl hkgdilmkkt lynktititv lhnglvmeme hptvgkisvp gpavryskfk
      421 msearpppll gqhtthilke vlryddraig ellsagvvdq heth
//
LOCUS       XP_047278399            1047 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-dependent DNA helicase Q4 isoform X4 [Homo sapiens].
ACCESSION   XP_047278399
VERSION     XP_047278399.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422443.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1047
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1047
                     /product="ATP-dependent DNA helicase Q4 isoform X4"
                     /calculated_mol_wt=114012
     Region          2..50
                     /region_name="RecQL4_SLD2_NTD"
                     /note="N-terminal homeodomain-like domain of metazoan RecQ
                     protein-like 4 (RecQL4), fungal DNA replication regulator
                     SLD2 and similar proteins; cd22289"
                     /db_xref="CDD:412085"
     Region          470..667
                     /region_name="DEXHc_RecQ4-like"
                     /note="DEAH-box helicase domain of RecQ4 and similar
                     proteins; cd18018"
                     /db_xref="CDD:350776"
     Site            order(478,480..482,485,504..510,605..606,642)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350776"
     Site            order(532..534,554..555,580,582..583,613,617..618)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:350776"
     Region          673..817
                     /region_name="SF2_C_RecQ"
                     /note="C-terminal helicase domain of the RecQ family
                     helicases; cd18794"
                     /db_xref="CDD:350181"
     Site            order(708..711,746,771..773,776,793)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:350181"
     Site            807
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350181"
     CDS             1..1047
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /coded_by="XM_047422443.1:50..3193"
                     /db_xref="GeneID:9401"
                     /db_xref="HGNC:HGNC:9949"
                     /db_xref="MIM:603780"
ORIGIN      
        1 merlrdvrer lqawerafrr qrgrrpsqdd veaapeetra lyreyrtlkr ttgqaggglr
       61 sseslpaaae eapeprcwgp hlnraatksp qstpgrsrqg svpdygqrlk anlkgtlqag
      121 palgrrpwpl grasskastp kppgtgpvps faekvsdepp qlpepqprpg rlqhlqasls
      181 qrlgsldpgw lqrchsevpd flgapkacrp dlgseesqll ipgesavlgp gagsqgpeas
      241 afqevsirvg spqpsssgge krrwneepwe spaqvqqess qagppsegag avaveedppg
      301 epvqaqppqp csspsnpryh glspssqara gkaegtaplh ifprlarhdr gnyvrlnmkq
      361 khyvrgralr srllrkqawk qkwrkkgecf ggggatvttk escflneqfd hwaaqcprpa
      421 seedtdavgp eplvpspqpv pevpsldptv lplyslgpsg qlaetpaevf qaleqlghqa
      481 frpgqeravm rilsgistll vlptgagksl cyqlpallys rrspcltlvv spllslmddq
      541 vsglppclka acihsgmtrk qresvlqkir aaqvhvlmlt pealvgaggl ppaaqlppva
      601 facideahcl sqwshnfrpc ylrvckvlre rmgvhcflgl tatatrrtas dvaqhlavae
      661 epdlhgpapv ptnlhlsvsm drdtdqallt llqgkrfqnl dsiiiycnrr edteriaall
      721 rtclhaawvp gsggrapktt aeayhagmcs rerrrvqraf mqgqlrvvva tvafgmgldr
      781 pdvravlhlg lppsfesyvq avgragrdgq pahchlflqp qgedlrelrr hvhadstdfl
      841 avkrlvqrvf pactctctrp pseqegavgg erpvpkyppq eaeqlshqaa pgprrvcmgh
      901 eralpiqltv qaldmpeege epgvshrgve glsprplspa lppaietllc ylelhphhwl
      961 ellattythc rlncpggpaq lqalahrcpp lavclaqqlp edpgqgsssv efdmvklvds
     1021 mgwelasvrr alcqlqwdhe prtargt
//
LOCUS       XP_016869751             439 aa            linear   PRI 20-MAR-2023
DEFINITION  ciliary neurotrophic factor receptor subunit alpha isoform X3 [Homo
            sapiens].
ACCESSION   XP_016869751
VERSION     XP_016869751.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014262.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..439
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..439
                     /product="ciliary neurotrophic factor receptor subunit
                     alpha isoform X3"
                     /calculated_mol_wt=47336
     Region          98..156
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          109..113
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          121..125
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          139..143
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          153..157
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          271..367
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(271,339,355)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(357..358,360..361)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..439
                     /gene="CNTFR"
                     /coded_by="XM_017014262.2:233..1552"
                     /db_xref="GeneID:1271"
                     /db_xref="HGNC:HGNC:2170"
                     /db_xref="MIM:118946"
ORIGIN      
        1 measgpqlhl ewqvarmsaa lpifpglgpg qhsldsiltg qrlrvysssd gggaagskdt
       61 lglsssvmaa pvpwaccavl aaaaavvyaq rhspqeaphv qyerlgsdvt lpcgtanwda
      121 avtwrvngtd lapdllngsq lvlhglelgh sglyacfhrd swhlrhqvll hvglpprepv
      181 lscrsntypk gfycswhlpt ptyipntfnv tvlhgskimv cekdpalknr chirymhlfs
      241 tikykvsisv snalghnata itfdeftivk pdppenvvar pvpsnprrle vtwqtpstwp
      301 dpesfplkff lryrplildq wqhvelsdgt ahtitdayag keyiiqvaak dneigtwsdw
      361 svaahatpwt eeprhlttea qaaetttstt sslapppttk icdpgelgsg ggpsapflvs
      421 vpitlalaaa aatasslli
//
LOCUS       XP_011516630            3072 aa            linear   PRI 20-MAR-2023
DEFINITION  protein prune homolog 2 isoform X20 [Homo sapiens].
ACCESSION   XP_011516630
VERSION     XP_011516630.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011518328.3
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 34% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3072
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..3072
                     /product="protein prune homolog 2 isoform X20"
                     /calculated_mol_wt=338808
     Region          24..278
                     /region_name="PPX1"
                     /note="Inorganic pyrophosphatase/exopolyphosphatase
                     [Energy production and conversion, Inorganic ion transport
                     and metabolism]; COG1227"
                     /db_xref="CDD:224148"
     Region          2799..2909
                     /region_name="BNIP2"
                     /note="Bcl2-/adenovirus E1B nineteen kDa-interacting
                     protein 2; pfam12496"
                     /db_xref="CDD:432594"
     Region          2921..3058
                     /region_name="CRAL_TRIO_2"
                     /note="Divergent CRAL/TRIO domain; pfam13716"
                     /db_xref="CDD:404584"
     Site            order(2995,3027)
                     /site_type="other"
                     /note="salt bridge"
                     /db_xref="CDD:238099"
     CDS             1..3072
                     /gene="PRUNE2"
                     /gene_synonym="BMCC1; BNIPXL; C9orf65; KIAA0367"
                     /coded_by="XM_011518328.3:152..9370"
                     /db_xref="GeneID:158471"
                     /db_xref="HGNC:HGNC:25209"
                     /db_xref="MIM:610691"
ORIGIN      
        1 meeflqraks klnrskrlek vhvvigpksc dldslistft yayfldkvsp pgvlclpvln
       61 iprtefnyft etrfileeln isesfhifrd einlhqlnde gklsitlvgs svlasedktl
      121 esavvkvinp veqsdanvef resssslvlk eilqeapeli teqlahrlrg silfkwmtme
      181 sekisekqee ilsileekfp nlpprediin vlqetqfsaq glsieqtmlk dlkelsdgei
      241 kvaistvsmn lenclfhsni tsdlkaftdk fgfdvlilfs sylseeqqpr rqiavysenm
      301 elcsqiccel eecqnpclel epfdcgcdei lvyqqedpsv tcdqvvlvvk evinrrcpem
      361 vsnsrtsste avagsaplsq gssgimelyg sdiepqpssv nfienppdln dsnqaqvdan
      421 vdlvspdsgl atirssrssk essvflsdds pvgegagphh tllpgldsys pipegavaee
      481 hawsgehgeh fdlfnfdpap masgqsqqss hsadyspadd ffpnsdlseg qlpagpegld
      541 gmgtnmsnys sssllsgagk dslvehdeef vqrqdsprdn sernlsltdf vgdespsper
      601 lkntgkripp tpmnslvess psteepasly tedmtqkatd tghmgppqth arcsswwggl
      661 eidskniada wssseqesvf qspeswkehk pssidrrasd svfqpkslef tksgpwesef
      721 gqpelgsndi qdkneeslpf qnlpmekspl pntspqgtnh liedfaslwh sgrsptampe
      781 pwgnptddge paavapfpaw safgkedhde alkntwnlhp tssktpsvrd pnewamaksg
      841 fafssselld nspseinnea apeiwgkknn dsrdhifapg npssdldhtw tnskppkedq
      901 nglvdpktrg kvyekvdswn lfeenmkkgg sdvlvpweds flsykcsdys asnlgedsvp
      961 spldtnysts dsytsptfag deketehkpf akeegfeskd gnstaeetdi ppqslqqssr
     1021 nrissgpgnl dmwasphtdn sseintthnl denelkteht dgknismedd vgessqssyd
     1081 dpsmmqlyne tnrqltllhs stnsrqtapd sldlwnrvil edtqstatis dmdndldwdd
     1141 csggaaipsd gqtegymaeg sepetrftvr qlepwgleyq eanqvdwelp asdehtkdsa
     1201 psehhtlnek sgqliansiw dsvmrdkdms sfmlpgsshi tdseqrelpp eipshsanvk
     1261 dthspdapaa sgtseseali shldkqdter etlqsdaasl atrlenpgyf phpdpwkghg
     1321 dgqsesekea qgatdrghld eeeviasgve nasgisekgq sdqelsslva sehqeiciks
     1381 gkisslavtf spqteepeev leyeegsynl dsrdvqtgms adnlqpkdth ekhlmsqrns
     1441 gettetsdgm nftkyvsvpe kdlekteecn flepenvggg pphrvprsld fgdvpidsdv
     1501 hvsstcseit knldvkgsen slpgagssgn fdrdtissey thssasspel ndssvalssw
     1561 gqqpssgyqe enqgnwseqn hqeselittd gqveivtkvk dleknrinef eksfdrktpt
     1621 fleiwndsvd gdsfsslssp etgkysehsg thqesnlias yqeknehdis atvqpedarv
     1681 istssgsddd svggeesiee eiqvanchva edesrawdsl nesnkflvta dpkseniydy
     1741 ldssepaene nksnpfcdnq qsspdpwtfs pltetemqit avekekrssp etgttgdvaw
     1801 qispkasfpk nednsqleml gfsadsteww kaspqegrli espferelsd ssgvleinss
     1861 vhqnaspwgv pvqgdiepve thytnpfsdn hqspflegng knsheqlwni qprqpdpdad
     1921 kfsqlvkldq ikekdsreqt fvsaagdelt petptqeqcq dtmlpvcdhp dtafthaeen
     1981 scvtsnvstn egqetnqweq eksylgemtn ssiatenfpa vssptqlimk pgsewdgstp
     2041 sedsrgtfvp dilhgnfqeg gqlasaapdl widakkpfsl kadgenpdil thcehdsnsq
     2101 asdspdichd seakqetekh lsacmgpeve sselcltepe ideepiyepg refvpsnael
     2161 dsenatvlpp igyqadikgs sqpashkgsp epseingdns tglqvsekga spdmapilep
     2221 vdrriprien vatsifvthq eptpegdgsw isdsfspesq pgaralfdgd phlstenpal
     2281 vpdallasdt cldiseaafd hsfsdasgln tstgtiddms kltlseghpe tpvdgdlgkq
     2341 dicsseaswg dfeydvmgqn idedllrepe hflyggdppl eedslkqsla pytppfdlsy
     2401 ltepaqsaet ieeagspede slgcraaeiv lsalpdrrse gnqaetknrl pgsqlavlhi
     2461 redpesvylp vgagsnilsp snvdwevetd nsdlpaggdi gppngaskei seleeektip
     2521 tkepeqikse ykeerctekn edrhalhmdy ilvnreensh skpetceere siaelelyvg
     2581 sketglqgtq lasfpdtcqp aslnerkgls aekmssksdt rssfespaqd qswmflghse
     2641 vgdpsldard sgpgwsgktv epfselglge gpqlqileem kpleslalee asgpvsqsqk
     2701 sksrgragpd avtlqavthd newemlspqp vqknmipdte meeeteflel gtrisrpngl
     2761 lsedvgmdip feegvlspsa admrpeppns ldlndthprr ikltapninl sldqsegsil
     2821 sddnldspde idinvdeldt pdeadsfeyt ghedptankd sgqesesipe ytaeeeredn
     2881 rlwrtvvige qeqridmkvi epyrrvishg gdsgyygdgl naiivfaacf lpdssradyh
     2941 yvmenlflyv istlelmvae dymivylnga tprrrmpglg wmkkcyqmid rrlrknlksf
     3001 iivhpswfir tilavtrpfi sskfsskiky vnslselsgl ipmdcihipe siikydeers
     3061 ykrsvrklcc vh
//
LOCUS       XP_054185750             699 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 311 isoform X1 [Homo sapiens].
ACCESSION   XP_054185750
VERSION     XP_054185750.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329775.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_113891.3) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..699
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..699
                     /product="zinc finger protein 311 isoform X1"
                     /calculated_mol_wt=79938
     CDS             1..699
                     /gene="ZNF311"
                     /gene_synonym="zf31"
                     /coded_by="XM_054329775.1:1245..3344"
                     /db_xref="GeneID:282890"
                     /db_xref="HGNC:HGNC:13847"
ORIGIN      
        1 mqevrrggsv ihhkeeegev sprkkessvv lldessgpps qllwtrqdtq lpqesallpa
       61 pypaftkdgs qgnlpqadit lmsqaqdsrs ilfqesvtfe dvavnftnre wqcltyaqrh
      121 lykdvmleny gnmvslgfpf pkpplishle revdpcvqdp qdreslscsy pvsadkmwpe
      181 nekassqqei fengeaywmk fnsllkvdsr dpkvrevcvq dvklenqwet sireklreek
      241 egseevtckk gknqkvlskn lnpnskhsqc nkvliaqklh ecarcgknfs whsdlilheq
      301 ihsgekphvc necgkafktr nqlsmhriih tgekpfnctq cgkafnsrsa lcrhkkthsg
      361 ekphecrdcg kafktrnrlc mhqlihtgek pykcnccgka fqfkhsltih grihtgekpy
      421 eceecgkafs gssdltkhir ihtgerpyec skcgrafsrs sdlskhkrih trekhygcpq
      481 cgkdfsikae ltkhrrihte ekryrceecg kafrhnckrr aherehtgek pyqcrdcgkt
      541 fqdkhcltih qrihtgekpy kclecgkafs gksnltnhrr ihtgekphkc evcgmafhhs
      601 svlrqhkrih tgekpytcse cgtsfrqgsa lighkrvhtg ekpyeceecg kafrvssnlt
      661 ghkkrkhqvw stheldgsrk slspvtvsqt svvsiltsa
//
LOCUS       XP_054188885             178 aa            linear   PRI 20-MAR-2023
DEFINITION  fumarylacetoacetate hydrolase domain-containing protein 2B isoform
            X6 [Homo sapiens].
ACCESSION   XP_054188885
VERSION     XP_054188885.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332910.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791765) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..178
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     Protein         1..178
                     /product="fumarylacetoacetate hydrolase domain-containing
                     protein 2B isoform X6"
                     /calculated_mol_wt=19593
     CDS             1..178
                     /gene="FAHD2B"
                     /coded_by="XM_054332910.1:189..725"
                     /db_xref="GeneID:151313"
                     /db_xref="HGNC:HGNC:25318"
ORIGIN      
        1 mlvsgrrrll tallqaqkwp fqpsrdmrlv qfraphlvgp hlgletgngg gvinlnafdp
       61 tlpktmtqfl eqgeatlsva rralaaqlpv lpwsevtfla pvtwpdkvvc vgmnyvdhck
      121 eqnvpvpkep iifskfassi vgpydevvlp pqsqevdwev elavvigkkg khikihtt
//
LOCUS       XP_054189174             952 aa            linear   PRI 20-MAR-2023
DEFINITION  lysosomal alpha-glucosidase isoform X1 [Homo sapiens].
ACCESSION   XP_054189174
VERSION     XP_054189174.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333199.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791802) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..952
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..952
                     /product="lysosomal alpha-glucosidase isoform X1"
                     /calculated_mol_wt=105193
     CDS             1..952
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /coded_by="XM_054333199.1:326..3184"
                     /db_xref="GeneID:2548"
                     /db_xref="HGNC:HGNC:4065"
                     /db_xref="MIM:606800"
ORIGIN      
        1 mgvrhppcsh rllavcalvs lataallghi llhdfllvpr elsgsspvle ethpahqqga
       61 srpgprdaqa hpgrpravpt qcdvppnsrf dcapdkaitq eqceargccy ipakqglqga
      121 qmgqpwcffp psypsyklen lsssemgyta tltrttptff pkdiltlrld vmmetenrlh
      181 ftikdpanrr yevpletphv hsrapsplys vefseepfgv ivrrqldgrv llnttvaplf
      241 fadqflqlst slpsqyitgl aehlsplmls tswtritlwn rdlaptpgan lygshpfyla
      301 ledggsahgv fllnsnamdv vlqpspalsw rstggildvy iflgpepksv vqqyldvvgy
      361 pfmppywglg fhlcrwgyss taitrqvven mtrahfpldv qwndldymds rrdftfnkdg
      421 frdfpamvqe lhqggrrymm ivdpaisssg pagsyrpyde glrrgvfitn etgqpligkv
      481 wpgstafpdf tnptalawwe dmvaefhdqv pfdgmwidmn epsnfirgse dgcpnnelen
      541 ppyvpgvvgg tlqaaticas shqflsthyn lhnlygltea iashralvka rgtrpfvisr
      601 stfaghgrya ghwtgdvwss weqlassvpe ilqfnllgvp lvgadvcgfl gntseelcvr
      661 wtqlgafypf mrnhnsllsl pqepysfsep aqqamrkalt lryallphly tlfhqahvag
      721 etvarplfle fpkdsstwtv dhqllwgeal litpvlqagk aevtgyfplg twydlqtvpv
      781 ealgslpppp aaprepaihs egqwvtlpap ldtinvhlra gyiiplqgpg ltttesrqqp
      841 malavaltkg geargelfwd dgeslevler gaytqvifla rnntivnelv rvtsegaglq
      901 lqkvtvlgva tapqqvlsng vpvsnftysp dtkvldicvs llmgeqflvs wc
//
LOCUS       XP_054190816            1497 aa            linear   PRI 20-MAR-2023
DEFINITION  multiple epidermal growth factor-like domains protein 6 isoform X5
            [Homo sapiens].
ACCESSION   XP_054190816
VERSION     XP_054190816.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334841.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1497
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1497
                     /product="multiple epidermal growth factor-like domains
                     protein 6 isoform X5"
                     /calculated_mol_wt=156542
     CDS             1..1497
                     /gene="MEGF6"
                     /gene_synonym="EGFL3"
                     /coded_by="XM_054334841.1:241..4734"
                     /db_xref="GeneID:1953"
                     /db_xref="HGNC:HGNC:3232"
                     /db_xref="MIM:604266"
ORIGIN      
        1 msfleearaa gravvlalvl lllpavpvga svpprpllpl qpgmphvcae qeltlvgrrq
       61 pcvqalshtv pvwkagcgwq awcvgherrt vyymgyrqvy tteartvlrc crgwmqqpde
      121 egclsaecsa glcfhggrcv pgsaqpchcp pgfqgprcqy dvdecrthng gcqhrcvntp
      181 gsylceckpg frlhtdsrtc lainscalgn ggcqhhcvql titrhrcqcr pgfqlqedgr
      241 hcvrrspcan rngscmhrcq vvrglarcec hvgyqlaadg kacedvdeca aglaqcahgc
      301 lntqgsfkcv chagyelgad grqcyrieme ivnsceanng gcshgcshts agplctcprg
      361 yeldtdqrtc idvddcadsp ccqqvctnnp ggyecgcyag yrlsadgcgc edvdecassr
      421 ggcehhctnl agsfqcscea gyrlhedrrg cspleepmvd ldgelpfvrp lphiavlqde
      481 lpqlfqdddv gadeeeaelr gehtltekfv clddsfghdc sltcddcrng gtcllgldgc
      541 dcpegwtgli cnetcppdtf gkncsfscsc qnggtcdsvt gacrcppgvs gtncedgcpk
      601 gyygkhcrkk cncanrgrch rlygaclcdp glygrfchlt cppwafgpgc seecqcvqph
      661 tqscdkrdgs csckagfrge rcqaecelgy fgpgcwqact cpvgvacdsv sgecgkrcpa
      721 gfqgedcgqe cpvgtfgvnc ssscscggap chgvtgqcrc ppgrtgedce adcpegrwgl
      781 gcqeicpacq haarcdpetg aclclpgfvg srcqdvcpag wygpscqtrc scandghchp
      841 atghcscapg wtgfscqrac dtghwgpdcs hpcncsaghg scdaisglcl ceagyvgprc
      901 eqqcpqghfg pgceqlcqcq hgaacdhvsg actcpagwrg tfcehacpag ffgldcrsac
      961 nctagaacda vngsclcpag rrgprcaetc pahtyghncs qacacfngas cdpvhgqchc
     1021 apgwmgpscl qacpaglygd ncrhsclcqn ggtcdpvsgh cacpegwagl acekeclprd
     1081 vragcrhsgg clngglcdph tgrclcpagw tgdkcqspcl rgwfgeacaq rcscppaaac
     1141 hhvtgacrcp pgftgsgceq gcppgrygpg ceqlcgclng gscdaatgac rcptgflgtd
     1201 cnltcpqgrf gpncthvcgc gqgaacdpvt gtclcppgra gvrcergcpq nrfgvgceht
     1261 cscrngglch asngscscgl gwtgrhcela cppgrygaac hlecschnns tcepatgtcr
     1321 cgpgfygqac ehpcppgfhg agcqglcwcq hgapcdpisg rclcpagfhg hfcergcepg
     1381 sfgegchqrc dcdggapcdp vtglclcppg rsgatcnldc rrgqfgpsct lhcdcgggad
     1441 cdpvsgqchc vdgymgptcr eggplrlpen pslaqgsagt lpassrptsr sggparh
//
LOCUS       XP_054191127            1171 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 6 isoform X33
            [Homo sapiens].
ACCESSION   XP_054191127
VERSION     XP_054191127.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335152.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1171
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1171
                     /product="pleckstrin homology domain-containing family A
                     member 6 isoform X33"
                     /calculated_mol_wt=131380
     CDS             1..1171
                     /gene="PLEKHA6"
                     /gene_synonym="PEPP-3; PEPP3"
                     /coded_by="XM_054335152.1:200..3715"
                     /db_xref="GeneID:22874"
                     /db_xref="HGNC:HGNC:17053"
                     /db_xref="MIM:607771"
ORIGIN      
        1 msnktggkrp attnsdipnh nmvsevpper psvratrtar kaiafgkrsh smkrnpnapv
       61 tkagwlfkqa ssgvkqwnkr wfvlvdrclf yykdekeesi lgsipllsfr vaavqpsdni
      121 srkhtfkvtv cwvdeaeass trclslqaeh agvrtyffsa espeeqeawi qamgeaarvq
      181 ippaqksvpq avrhshekpd senvppskhh qqpphnslpk pepeaktrge gdgrgcekae
      241 rrperpevkk eppvkanglp agpepasepg spypegprvp gggeqpaqpn gwqyhspsrp
      301 gstafpsqdg etgghrrsfp prtnpdkiaq rkssmnqlqq wvnlrrgvpp pedlrspsrf
      361 ypvsrrvpey ygpyssqypd dyqyyppgvr pesicsmpay drisppwale dkrhafrngg
      421 gpayqlrewk epasygrqda tvwipspsrq pvyydeldaa ssslrrlslq prshsvprsp
      481 sqgsysrari yspvrspsar ferlpprsed iyadpaayvm rrsisspkyd ylgdrrpvpa
      541 glfpynypps ptvhdkmdel ldlqlqrnle yldqqmsese tlismvnrmv enssprsqlf
      601 mqvppypevf rdslhtykln eqdtdkllgk lceqnkvvre qdrlvqqlra ekeslesalm
      661 gthqelemfg sqpaypeklr hkkdslqnql inirvelsqa ttaltnstie yehlesevsa
      721 lhddlweqln ldtqnevlnr qiqkeiwriq dvmeglrknn psrgtdtakh rgglgpsaty
      781 ssnspaspls sasltsplsp fslvsgsqgs ptkpgsneep gpprpplpka yvplesppav
      841 pplpsesrfw pypsspswhr sgetargqpk anyeqskkdp hqtlpldtpr dislvptrqe
      901 veaekqaaln kvgvvpprtk sptddevtps avvrrnasgl tnglssqerp ksavfpgegk
      961 vkmsveeqid rmrrhqsgsm rekrrslqlp aspapdpspr paykvvrrhr sihevdisnl
     1021 eaalraeepg ghayetpree iarlrkmele pqhydvdink elstpdkvli peryidlepd
     1081 tplspeelke kqkkverikt liakssmqnv vpigegdsvd vpqdsesqlq eqekrieisc
     1141 alateasrrg rmlsvqalae anavklhrat f
//
LOCUS       XP_054191214             616 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 39A isoform X1 [Homo sapiens].
ACCESSION   XP_054191214
VERSION     XP_054191214.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335239.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..616
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..616
                     /product="tetratricopeptide repeat protein 39A isoform X1"
                     /calculated_mol_wt=70125
     CDS             1..616
                     /gene="TTC39A"
                     /gene_synonym="C1orf34; DEME-6"
                     /coded_by="XM_054335239.1:74..1924"
                     /db_xref="GeneID:22996"
                     /db_xref="HGNC:HGNC:18657"
                     /db_xref="MIM:619885"
ORIGIN      
        1 maflttwkea asgksdrrtp esslhealdq cmtaldlflt nqfsealsyl kprtkesmyh
       61 sltyatilem qammtfdpqd illagnmmke aqmlcqrhrr kssvtdsfss lvnrptlgqf
      121 teeeihaevc yaecllqraa ltflqgsshg gavrpralhd pshacscppg pgrqhlfllq
      181 denmvsfikg gikvrnsyqt ykeldslvqs sqyckgenhp hfeggvklgv gafnltlsml
      241 ptrilrllef vgfsgnkdyg llqleegasg hsfrsvlcvm lllcyhtflt fvlgtgnvni
      301 eeaekllkpy lnrypkgaif lffagrievi kgnidaairr feecceaqqh wkqfhhmcyw
      361 elmwcftykg qwkmsyfyad llskencwsk atyiymkaay lsmfgkedhk pfgddevelf
      421 ravpglklki agkslptekf airksrryfs snpislpvpa lemmyiwngy avigkqpklt
      481 dgileiitka eemlekgpen eysvddeclv kllkglclky lgrvqeaeen frsisanekk
      541 ikydhylipn allelalllm eqdrneeaik llesakqnyk nysmesrthf riqaatlqak
      601 sslenssrsm vssvsl
//
LOCUS       XP_054191220             585 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 39A isoform X5 [Homo sapiens].
ACCESSION   XP_054191220
VERSION     XP_054191220.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335245.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..585
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..585
                     /product="tetratricopeptide repeat protein 39A isoform X5"
                     /calculated_mol_wt=66676
     CDS             1..585
                     /gene="TTC39A"
                     /gene_synonym="C1orf34; DEME-6"
                     /coded_by="XM_054335245.1:205..1962"
                     /db_xref="GeneID:22996"
                     /db_xref="HGNC:HGNC:18657"
                     /db_xref="MIM:619885"
ORIGIN      
        1 mtaldlfltn qfsealsylk prtkesmyhs ltyatilemq ammtfdpqdi llagnmmkea
       61 qmlcqrhrrk ssvtdsfssl vnrptlgqft eeeihaevcy aecllqraal tflqgsshgg
      121 avrpralhdp shacscppgp grqhlfllqd enmvsfikgg ikvrnsyqty keldslvqss
      181 qyckgenhph feggvklgvg afnltlsmlp trilrllefv gfsgnkdygl lqleegasgh
      241 sfrsvlcvml llcyhtfltf vlgtgnvnie eaekllkpyl nrypkgaifl ffagrievik
      301 gnidaairrf eecceaqqhw kqfhhmcywe lmwcftykgq wkmsyfyadl lskencwska
      361 tyiymkaayl smfgkedhkp fgddevelfr avpglklkia gkslptekfa irksrryfss
      421 npislpvpal emmyiwngya vigkqpkltd gileiitkae emlekgpene ysvddeclvk
      481 llkglclkyl grvqeaeenf rsisanekki kydhylipna llelalllme qdrneeaikl
      541 lesakqnykn ysmesrthfr iqaatlqaks slenssrsmv ssvsl
//
LOCUS       XP_054193510             772 aa            linear   PRI 20-MAR-2023
DEFINITION  arf-GAP with SH3 domain, ANK repeat and PH domain-containing
            protein 3 isoform X7 [Homo sapiens].
ACCESSION   XP_054193510
VERSION     XP_054193510.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337535.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..772
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..772
                     /product="arf-GAP with SH3 domain, ANK repeat and PH
                     domain-containing protein 3 isoform X7"
                     /calculated_mol_wt=84777
     CDS             1..772
                     /gene="ASAP3"
                     /gene_synonym="ACAP4; CENTB6; DDEFL1; UPLC1"
                     /coded_by="XM_054337535.1:424..2742"
                     /db_xref="GeneID:55616"
                     /db_xref="HGNC:HGNC:14987"
                     /db_xref="MIM:616594"
ORIGIN      
        1 mkgqlrdgrq dskkqlekaw kdyeakmakl ekerdrarvt ggipgevaqd mqrerrifql
       61 hmceyllkag esqmkqgpdf lqslikffha qhnffqdgwk aaqslfpfie klaasvhalh
      121 qaqedelqkl tqlrdslrgt lqlesreehl srknsgcgys ihqhqgnkqf gtekvgflyk
      181 ksdgirrvwq krkcgvkygc ltishstinr ppvkltlltc qvrpnpeekk cfdlvthnrt
      241 yhfqaedehe ceawvsvlqn skdealssaf lgepsagpgs wgsaghdgep hdltklliae
      301 vksrpgnsqc cdcgaadptw lstnlgvltc iqcsgvhrel gvrfsrmqsl tldllgpsel
      361 llalnmgnts fnevmeaqlp shggpkpsae sdmgtrrdyi makyvehrfa rrctpepqrl
      421 wtaicnrdll svleafangq dfgqplpgpd aqapeelvlh lavkvanqas lplvdfiiqn
      481 gghldakaad gntalhyaal ynqpdclkll lkgralvgtv neagetaldi arkkhhkece
      541 elleqaqagt fafplhvdys wvistepgsd seedeeekrc llklpaqahw asgrldisnk
      601 tyetvaslga atpqgesedc ppplpvknss rtlvqgcarh asgdrsevss lsseapetpe
      661 slgspassss lmsplepgdp sqappnseeg lreppgtsrp sltsgttpse mylpvrfsse
      721 strsyrrgar spedgpsarq plprrnvpvg itegdgsrtg slpassvqll qd
//
LOCUS       XP_054193671             412 aa            linear   PRI 20-MAR-2023
DEFINITION  protein kinase C zeta type isoform X14 [Homo sapiens].
ACCESSION   XP_054193671
VERSION     XP_054193671.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337696.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..412
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..412
                     /product="protein kinase C zeta type isoform X14"
                     /calculated_mol_wt=47188
     CDS             1..412
                     /gene="PRKCZ"
                     /gene_synonym="PKC-ZETA; PKC2"
                     /coded_by="XM_054337696.1:482..1720"
                     /db_xref="GeneID:5590"
                     /db_xref="HGNC:HGNC:9412"
                     /db_xref="MIM:176982"
ORIGIN      
        1 mdsvmpsqep pvddknedad lpseetdgia yisssrkhds ikddsedlkp vidgmdgiki
       61 sqglglqdfd lirvigrgsy akvllvrlkk ndqiyamkvv kkelvhdded idwvqtekhv
      121 feqassnpfl vglhscfqtt srlflvieyv nggdlmfhmq rqrklpeeha rfyaaeicia
      181 lnflhergii yrdlkldnvl ldadghiklt dygmckeglg pgdttstfcg tpnyiapeil
      241 rgeeygfsvd wwalgvlmfe mmagrspfdi itdnpdmnte dylfqvilek piriprflsv
      301 kashvlkgfl nkdpkerlgc rpqtgfsdik shaffrsidw dlmhrqlrct darttwtprr
      361 cgrtddmdaq tmwmhgrrrh tddsstddsd artprrrgrt ddadaqmtwt hr
//
LOCUS       XP_054193745             647 aa            linear   PRI 20-MAR-2023
DEFINITION  atypical kinase COQ8A, mitochondrial isoform X1 [Homo sapiens].
ACCESSION   XP_054193745
VERSION     XP_054193745.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337770.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..647
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..647
                     /product="atypical kinase COQ8A, mitochondrial isoform X1"
                     /calculated_mol_wt=71819
     CDS             1..647
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /coded_by="XM_054337770.1:183..2126"
                     /db_xref="GeneID:56997"
                     /db_xref="HGNC:HGNC:16812"
                     /db_xref="MIM:606980"
ORIGIN      
        1 maailgdtim vakglvkltq aavethlqhl giggelimaa ralqstaveq igmflgkvqg
       61 qdkheeyfae nfggpegefh fsvphaagas tdfssasapd qsappslgha hsegpapayv
      121 asgpfreagf pgqassplgr angrlfanpr dsfsamgfqr rffhqdqspv ggltaediek
      181 arqakarpen kqhkqtlseh arerkvpvtr igrlanfggl avglgfgala evakkslrse
      241 dpsgkkavlg sspflseana erivrtlckv rgaalklgqm lsiqddafin phlakiferv
      301 rqsadfmplk qmmktlnndl gpnwrdkley feerpfaaas igqvhlarmk ggrevamkiq
      361 ypgvaqsins dvnnlmavln msnmlpeglf pehlidvlrr elalecdyqr eaacarkfrd
      421 llkghpffyv peivdelcsp hvlttelvsg fpldqaegls qeirneicyn ilvlclrelf
      481 efhfmqtdpn wsnffydpqq hkvalldfga treydrsftd lyiqiiraaa drdretvrak
      541 siemkfltgy evkvmedahl daililgeaf asdepfdfgt qsttekihnl ipvmlrhrlv
      601 pppeetyslh rkmggsflic sklkarfpck amfeeaysny ckrqaqq
//
LOCUS       XP_054195826            1656 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 170 kDa isoform X1 [Homo sapiens].
ACCESSION   XP_054195826
VERSION     XP_054195826.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339851.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1656
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1656
                     /product="centrosomal protein of 170 kDa isoform X1"
                     /calculated_mol_wt=183176
     CDS             1..1656
                     /gene="CEP170"
                     /gene_synonym="FAM68A; KAB; KIAA0470"
                     /coded_by="XM_054339851.1:367..5337"
                     /db_xref="GeneID:9859"
                     /db_xref="HGNC:HGNC:28920"
                     /db_xref="MIM:613023"
ORIGIN      
        1 msltswflvs sggtrhrlpr emifvgrddc elmlqsrsvd kqhavinyda stdehlvkdl
       61 gslngtfvnd vripeqtyit lkledklrfg ydtnlftvvq gemrvpeeal khekftiqlq
      121 lsqkssesel sksasaksid skvadaatev qhkttealks eekamdisam prgtplygqp
      181 swwgddevde krafktngkp eeknheagts gcsidakqve eqsaaaneev lfpfcrepsy
      241 feiptkefqq psqitestih eiptkdtpss hitgaghasf tiefddstpg kvtirdhvtk
      301 ftsdqrhksk ksspgtqdll giqtgmmape nkvadwlaqn nppqmlwert eedsksiksd
      361 vpvylkrlkg nkhddgtqsd senagahrrc skratleehl rrhhsehkkl qkvqatekhq
      421 dqavvsqtaf miaffdednp rkrrsysftq sagilcqett ystphtklek aksptadakv
      481 vslslqtssa hhrgghgvph gkllkqksee psvsipflqt allrssgslg hrpsqemdkm
      541 lknqatsats ekdndddqsd kgtytielen pnseeveark midkvfgvdd nqdynrpvin
      601 ekhkdlikdw alssaaavme erkplttsgf hhseegtsss gskrwvsqwa slaanhtrhd
      661 qeerimefsa plplenetei sesgmtvrst gsatslasqg errrrtlpql pneekslesh
      721 rakvvtqrse igekqdtelq eketptqvyq kdkqdadrpl skmnravnge tlktggdnkt
      781 llhlgssapg keksetdket slvkqtlakl qqqeqreeaq wtptklsskn vsgqtdkcre
      841 etfkqesqpp eknsghstsk gdrvaqsesk rrkaeeilks qtpkggdkke sskslvrqgs
      901 ftiekpspni pieliphink qtsstpssla ltsasrirer sesldpdssm dttlilkdte
      961 avmafleakl rednktdegp dtpsynrdns ispesdvdta stislvtget erkstqkrks
     1021 ftslykdrcs tgspskdvtk ssssgarekm ekktksrstd vgsradgrkf vqssgrirqp
     1081 svdltdddqt ssvphsaisd imssdqetys ckphgrtplt sadehvhskl egskvtkskt
     1141 spvvsgsssk sttlprprpt rtsllrrarl geasdselad adkasvasev sttsstskpp
     1201 tgrrnisrid llaqprrtrl gslsarsdse atisrssass rtaeaiirsg arlvpsdkfs
     1261 priransisr lsdskvksmt sahgsasvns rwrrfptdya stsedefgsn rnspkhtrlr
     1321 tspalkttrl qsagsavpts ssfkhrikeq edyirdwtah reeiarisqd laliareind
     1381 vageidsvts sgtapsttvs taattpgsai dtreevgdlh gemhklvdrv fdeslnfrki
     1441 pplvhsktpe gnngrsgdpr pqaaeppdhl titrrrtwsr devmgdnlll ssvfqfskki
     1501 rqsidktagk irilfkdkdr nwddiesklr aesevpivkt ssmeissilq elkrvekqlq
     1561 ainamidpdg tlealnnmgf psamlpsppk qksspvnnhh spgqtptlgq pearalhpaa
     1621 vsaaaefena eseadfsihf nrfnpdgeee dvtvqe
//
LOCUS       XP_054220724             307 aa            linear   PRI 20-MAR-2023
DEFINITION  swi5-dependent recombination DNA repair protein 1 homolog isoform
            X1 [Homo sapiens].
ACCESSION   XP_054220724
VERSION     XP_054220724.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364749.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..307
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..307
                     /product="swi5-dependent recombination DNA repair protein
                     1 homolog isoform X1"
                     /calculated_mol_wt=35808
     CDS             1..307
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /coded_by="XM_054364749.1:469..1392"
                     /db_xref="GeneID:119392"
                     /db_xref="HGNC:HGNC:29574"
                     /db_xref="MIM:616527"
ORIGIN      
        1 mknlvvpmwe gkwktakrar mnykvkleei sgllvdalyt ntiyylikvd yrevwlirlf
       61 ynfsfleknq dftfkmesps dsavvlpstp qasanpsspy tnssrkqpms atlrerlrkt
      121 rfsfnssynv vkrlkvesee ndqtfsekpa ssteenclef qesfkhidse feentnlknt
      181 lknlnvcesq sldsgscsal qnefvseklp kqrlnaekak lvkqvqeked llrrlklvkm
      241 yrskndlsql qllikkwrsc sqlllyelqs avseenkkls ltqlidhygl ddkllhynrs
      301 eeefidv
//
LOCUS       XP_054222279             384 aa            linear   PRI 20-MAR-2023
DEFINITION  mitogen-activated protein kinase 8 isoform X2 [Homo sapiens].
ACCESSION   XP_054222279
VERSION     XP_054222279.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366304.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..384
                     /product="mitogen-activated protein kinase 8 isoform X2"
                     /calculated_mol_wt=43891
     CDS             1..384
                     /gene="MAPK8"
                     /gene_synonym="JNK; JNK-46; JNK1; JNK1A2; JNK21B1/2;
                     PRKM8; SAPK1; SAPK1c"
                     /coded_by="XM_054366304.1:309..1463"
                     /db_xref="GeneID:5599"
                     /db_xref="HGNC:HGNC:6881"
                     /db_xref="MIM:601158"
ORIGIN      
        1 msrskrdnnf ysveigdstf tvlkryqnlk pigsgaqgiv caaydailer nvaikklsrp
       61 fqnqthakra yrelvlmkcv nhkniiglln vftpqkslee fqdvyivmel mdanlcqviq
      121 meldhermsy llyqmlcgik hlhsagiihr dlkpsnivvk sdctlkildf glartagtsf
      181 mmtpyvvtry yrapevilgm gykenvdiws vgcimgemik ggvlfpgtdh idqwnkvieq
      241 lgtpcpefmk klqptvrtyv enrpkyagys feklfpdvlf padsehnklk asqardllsk
      301 mlvidaskri svdealqhpy invwydpsea eapppkipdk qlderehtie ewkeliykev
      361 mdleertkng virgqpspla qvqq
//
LOCUS       XP_054222937             885 aa            linear   PRI 20-MAR-2023
DEFINITION  actin filament-associated protein 1-like 2 isoform X7 [Homo
            sapiens].
ACCESSION   XP_054222937
VERSION     XP_054222937.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366962.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..885
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..885
                     /product="actin filament-associated protein 1-like 2
                     isoform X7"
                     /calculated_mol_wt=98191
     CDS             1..885
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /coded_by="XM_054366962.1:48..2705"
                     /db_xref="GeneID:84632"
                     /db_xref="HGNC:HGNC:25901"
                     /db_xref="MIM:612420"
ORIGIN      
        1 merykaleql ltelddflki ldqenlssta lvkksclael lrlytkssss deeyiymnkv
       61 tinkqqnaes qgkapeeqgl lpngepsqhs sapqkslpdl pppkmiperk qlaipktesp
      121 egyyeeaepy dtslnghsgg flptgvprwv qvpegviyat itledgeavs ssyesydeed
      181 gskgksapyq wpspeagiel mrdaricafl wrkkwlgqwa kqlcvikdnr llcyksskdh
      241 spqldvnllg ssvihkekqv rkkehklkit pmnadvivlg lqskdqaeqw lrviqevsgl
      301 psegasegnq ytpdaqrfnc qkpdiaekyl saseygssvd ghpevpetkd vkkkcsaglk
      361 lsnlmnlgrk kstslepver sletssylnv lvnsqwksrw csvrdnhlhf yqdrnrskva
      421 qqplslvgce vvpdpspdhl ysfrilhkge elakleakss eemghwlgll lsesgsktdp
      481 eeftydyvda drvscivsaa knslllmqrk fsepntyidg lpsqdrqeel yddvdlselt
      541 aavepteeat pvaddpnere sdrvyldltp vksflhgpss aqaqassptl scldnateal
      601 padsgpgptp depcikcpen lgeqleslep edpslrittv kiqteqqris fppscpdavv
      661 atppgasppv kdrlrvtsae iklgknrtea evkryteeke rlekkkeeir ghlaqlrkek
      721 relketllkc tdkevlasle qklkeideec rgeesrrvdl elsimevkdn lkkaeagpvt
      781 lgttvdtthl envsprpkav tpasapdctp vnsattlknr plsvvvtgkg tvlqkaklrw
      841 gekstegarl qasrsapapp lhprcaatiw stqqvstrgs agqdm
//
LOCUS       XP_054225091             147 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 138 isoform X4 [Homo sapiens].
ACCESSION   XP_054225091
VERSION     XP_054225091.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369116.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..147
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..147
                     /product="transmembrane protein 138 isoform X4"
                     /calculated_mol_wt=16707
     CDS             1..147
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /coded_by="XM_054369116.1:187..630"
                     /db_xref="GeneID:51524"
                     /db_xref="HGNC:HGNC:26944"
                     /db_xref="MIM:614459"
ORIGIN      
        1 mlqtsnyslv lslqflllsy dlfvnsfsel lqktpviqlv lfiiqdiavl fniiiiflmf
       61 fntfvfqagl vnllfhkfkg tiiltavyfa lsislhvwvm kevevpgkkq sntrvsgcfl
      121 krilcpgsws qnrswlctik avnlikp
//
LOCUS       XP_054225491             640 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing protein 4C isoform X1 [Homo
            sapiens].
ACCESSION   XP_054225491
VERSION     XP_054225491.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369516.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..640
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..640
                     /product="leucine-rich repeat-containing protein 4C
                     isoform X1"
                     /calculated_mol_wt=71819
     CDS             1..640
                     /gene="LRRC4C"
                     /gene_synonym="NGL-1; NGL1"
                     /coded_by="XM_054369516.1:877..2799"
                     /db_xref="GeneID:57689"
                     /db_xref="HGNC:HGNC:29317"
                     /db_xref="MIM:608817"
ORIGIN      
        1 mlnkmtlhpq qimigprfnr alfdpllvvl lalqllvvag lvraqtcpsv cscsnqfskv
       61 icvrknlrev pdgistntrl lnlhenqiqi ikvnsfkhlr hleilqlsrn hirtieigaf
      121 nglanlntle lfdnrlttip ngafvylskl kelwlrnnpi esipsyafnr ipslrrldlg
      181 elkrlsyise gafeglsnlr ylnlamcnlr eipnltplik ldeldlsgnh lsairpgsfq
      241 glmhlqklwm iqsqiqvier nafdnlqslv einlahnnlt llphdlftpl hhlerihlhh
      301 npwncncdil wlswwikdma psntaccarc ntppnlkgry igeldqnyft cyapvivepp
      361 adlnvtegma aelkcrasts ltsvswitpn gtvmthgayk vriavlsdgt lnftnvtvqd
      421 tgmytcmvsn svgnttasat lnvtaatttp fsyfstvtve tmepsqdear ttdnnvgptp
      481 vvdwettnvt tsltpqstrs tektftipvt dinsgipgid evmkttkiii gcfvaitlma
      541 avmlvifykm rkqhhrqnhh aptrtveiin vddeitgdtp meshlpmpai ehehlnhyns
      601 ykspfnhttt vntinsihss vhepllirmn skdnvqetqi
//
LOCUS       XP_054225741             252 aa            linear   PRI 20-MAR-2023
DEFINITION  syntaxin-3 isoform X6 [Homo sapiens].
ACCESSION   XP_054225741
VERSION     XP_054225741.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369766.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..252
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..252
                     /product="syntaxin-3 isoform X6"
                     /calculated_mol_wt=28729
     CDS             1..252
                     /gene="STX3"
                     /gene_synonym="DIAR12; MVID2; RDMVID; STX3A"
                     /coded_by="XM_054369766.1:231..989"
                     /db_xref="GeneID:6809"
                     /db_xref="HGNC:HGNC:11438"
                     /db_xref="MIM:600876"
ORIGIN      
        1 mkdrleqlka kqltqdddtd aveiaidnta fmdeffseie etrlnidkis ehveeakkly
       61 siilsapipe pktkddleql tteikkrann vrnklksmek hieedevrss adlrirksqh
      121 svlsrkfvev mtkyneaqvd frerskgriq rqleitgkkt tdeeleemle sgnpaiftsg
      181 iidsqiskqa lseiegrhkd ivrlessike lhdmfmdiam lvenqkliii ivlvvvllgi
      241 laliiglsvg ln
//
LOCUS       XP_054226594            2074 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 32 isoform X1 [Homo sapiens].
ACCESSION   XP_054226594
VERSION     XP_054226594.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370619.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2074
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2074
                     /product="rho GTPase-activating protein 32 isoform X1"
                     /calculated_mol_wt=228594
     CDS             1..2074
                     /gene="ARHGAP32"
                     /gene_synonym="GC-GAP; GRIT; p200RhoGAP; p250GAP; PX-RICS;
                     RICS"
                     /coded_by="XM_054370619.1:5..6229"
                     /db_xref="GeneID:9743"
                     /db_xref="HGNC:HGNC:17399"
                     /db_xref="MIM:608541"
ORIGIN      
        1 mytlesglig kkllaqwqrf srqallhslw iylwvmfpst vqsvvvaear gadvpeipgd
       61 ltlktcgsta smkvkhvkks ttpglmgcdn ihrlpftkgh fpkmaecahf hyenvefgsi
      121 qlslseeqne vmkngceske lvylvqiacq gkswivkrsy edfrvldkhl hlciydrrfs
      181 qlselprsdt lkdspesvtq mlmaylsrls aiagnkincg paltwmeidn kgnhllvhee
      241 ssintpavga ahvikrytar apdeltlevg divsvidmpp kvlstwwrgk hgfqvglfpg
      301 hcvelinqkv pqsvtnsvpk pvskkhgkli tflrtfmksr ptkqklkqrg ilkervfgcd
      361 lgehllnsgf evpqvlqsct afierygivd giyrlsgvas niqrlrhefd sehvpdltke
      421 pyvqdihsvg slcklyfrel pnplltyqly ekfsdavsaa tdeerlikih dviqqlppph
      481 yrtleflmrh lslladycsi tnmhaknlai vwapnllrsk qiesacfsgt aafmevriqs
      541 vvvefilnhv dvlfsgrism amqegaasls rpksllvssp stklltleea qartqaqvns
      601 pivtenkyie vgegpaalqg kfhtiiefpl erkrpqnkmk kspvgswrsf fnlgksssvs
      661 krklqrnese psemkamalk ggraegtlrs akseesltsl havdgdsklf rprrprsssd
      721 alsasfngem lgnrcnsydn lphdneseee ggllhipalm sphsaedvdl sppdigvasl
      781 dfdpmsfqcs ppkaesecle sgasfldspg yskdkpsank kdaetgssqc qtpgstasse
      841 pvsplqekls pfftldlspt edksskpssf tekvvyafsp kigrklsksp smsisepisv
      901 tlpprvsevi gtvsnttaqn assstwdkcv eerdatnrsp tqivkmktne tvaqeayese
      961 vqpldqvaae evelpgkedq svsssqskav asgqtqtgav thdppqdsvp vssvslippp
     1021 pppknvarml alalaesaqq astqslkrpg tsqagytnyg diavattedn lsssysaval
     1081 dkayfqtdrp aeqfhlqnna pgncdhplpe ttatgdpths nttesgeqhh qvdltgnqph
     1141 qaylsgdpek aritsvplds eksddhvsfp edqsgknsmp tvsfldqdqs pprfysgdqp
     1201 psylgasvdk lhhplefadk sptppnlpsd kiyppsgspe entstatmty mtttpataqm
     1261 stkeaswdva eqpttadfaa atlqrthrtn rplppppsqr saeqppvvgq vqaatnigln
     1321 nshkvqgvvp vperppepra mddpasafis dsgaaaaqcp matavqpglp ekvrdgarvp
     1381 llhlraesvp ahpcgfpapl pptrmmeskm iaaihsssad atsssnyhsf vtasstsvdd
     1441 alplplpvpq pkhasqktvy ssfarpdvtt epfgpdnclh fnmtpncqyr pqsvpphhnk
     1501 leqhqvygar seppasmglr yntyvapgrn asghhskpcs rveyvsslss svrntcyped
     1561 ippyptirrv qslhappssm irsvpisrte vppddepayc prplyqykpy qssqarsdyh
     1621 vtqlqpyfen grvhyryspy ssssssyysp dgalcdvday gtvqlrplhr lpnrdfafyn
     1681 prlqgkslys yaglaprpra nvtgyfspnd hnvvsmppaa dvkhtytswd ledmekyrmq
     1741 sirresrarq kvkgpvmsqy dnmtpavqdd lggiyvihlr sksdpgktgl lsvaegkesr
     1801 haakaispeg edrfyrrhpe aemdrahhhg ghgstqpekp slpqkqsslr srklpdmgcs
     1861 lpehrahqea shrqfceskn gppypqgagq ldygskgipd tsepvsyhns gvkyaasgqe
     1921 slrlnhkevr lskemerpwv rqpsapekhs rdcykeeehl tqsivpppkp ershslklhh
     1981 tqnverdpsv lyqyqphgkr qssvtvvsqy dnledyhslp qhqrgvfggg gmgtyvppgf
     2041 phpqsrtyat algqgaflpa elslqhpetq ihae
//
LOCUS       XP_054228007             176 aa            linear   PRI 20-MAR-2023
DEFINITION  C-type lectin domain family 12 member B isoform X4 [Homo sapiens].
ACCESSION   XP_054228007
VERSION     XP_054228007.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372032.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..176
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..176
                     /product="C-type lectin domain family 12 member B isoform
                     X4"
                     /calculated_mol_wt=19568
     CDS             1..176
                     /gene="CLEC12B"
                     /gene_synonym="UNQ5782"
                     /coded_by="XM_054372032.1:212..742"
                     /db_xref="GeneID:387837"
                     /db_xref="HGNC:HGNC:31966"
                     /db_xref="MIM:617573"
ORIGIN      
        1 mseevtyatl tfqdsagarn nrdgnnlrkr ghpapspiwr haalglvtlc lmlliglvtl
       61 gmmflqisnd insdseklsq lqktiqqqqd nlsqqlgnsn nlsmeeeflk sqissllkrq
      121 eqmaiklcqe liihtsgfsy vtaithvfvl lagiimgllw qklvlgrwlc slsili
//
LOCUS       XP_054228963             545 aa            linear   PRI 20-MAR-2023
DEFINITION  spermatogenesis-associated serine-rich protein 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054228963
VERSION     XP_054228963.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372988.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..545
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..545
                     /product="spermatogenesis-associated serine-rich protein 2
                     isoform X1"
                     /calculated_mol_wt=59414
     CDS             1..545
                     /gene="SPATS2"
                     /gene_synonym="Nbla00526; P59SCR; SCR59; SPATA10"
                     /coded_by="XM_054372988.1:407..2044"
                     /db_xref="GeneID:65244"
                     /db_xref="HGNC:HGNC:18650"
                     /db_xref="MIM:611667"
ORIGIN      
        1 msrkqnqkds sgfifdlqsn tvlaqggafe nmkekinavr aivpnksnne iilvlqhfdn
       61 cvdktvqafm egsasevlke wtvtgkkknk kkknkpkpaa epsngipdss ksvsiqeeqs
      121 apssekggmn gyhvngaind tesvdslseg letlsidare ledpesamld tldrtgsmlq
      181 ngvsdfetks ltmhsihnsq qprnaaksls rpttetqfsn mgmedvplat skklssniek
      241 svkdlqrctv slaryrvvvk eemdasikkm kqafaelesc lmdrevalla emdkvkaeam
      301 eillsrqkka ellkkmthva vqmseqqlve lradikhfvs erkydedlgr varftcdvet
      361 lkksidsfgq vshpknsyst rsrcssvtsv slsspsdasa assstcaspp sltsankknf
      421 apgetpaaia nssgqpyqpl revlpgnrrg gqgyrpqgqk sndpmnqgrh dsmgryrnss
      481 wyssgsryqs apsqapgnti ergqthsagt ngtgvsmeps pptpsfkkgl pqrkprtsqt
      541 eavns
//
LOCUS       XP_054229237            2728 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 290 kDa isoform X4 [Homo sapiens].
ACCESSION   XP_054229237
VERSION     XP_054229237.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373262.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2728
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2728
                     /product="centrosomal protein of 290 kDa isoform X4"
                     /calculated_mol_wt=318614
     CDS             1..2728
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /coded_by="XM_054373262.1:217..8403"
                     /db_xref="GeneID:80184"
                     /db_xref="HGNC:HGNC:29021"
                     /db_xref="MIM:610142"
ORIGIN      
        1 mppninwkei mkvdpddlpr qeeladnlli slskvevnel ksekqenvih lfritqslmk
       61 mkaqevelal eevekageeq akfenqlktk vmklenelem aqqsaggrdt rflrneicql
      121 ekqleqkdre ledmekelek ekkvneqlal rneeaenens klrrenkrlk kkneqlcqdi
      181 idyqkqidsq ketllsrrge dsdyrsqlsk knyeliqyld eiqtlteane kievqnqemr
      241 knleesvqem ekmtdeynrm kaivhqtdnv idqlkkendh yqlqvqeltd llkskneedd
      301 pimvavnakv eewklilssk ddeiieyqqm lhnlreklkn aqldadksnv malqqgiqer
      361 dsqikmlteq veqytkemek ntciiedlkn elqrnkgast lsqqthmkiq stldilkekt
      421 keaertaela eadarekdke lvealkrlkd yesgvygled avveiknckn qikirdreie
      481 iltkeinkle lkisdflden ealrervgle pktmidltef rnskhlkqqq yraenqillk
      541 eiesleeerl dlkkkirqma qergkrsats glttedlnlt enisqgdris erkldllslk
      601 nmseaqskir ssdkaellhr rssfntpqsd qneteenmti gslsrmlsei hhsvesgmhp
      661 fvpltrlsss mqvkenstpe titireifka pclqssrnle slvstfsres heeindiclf
      721 sddcmkkvsr shqalektsf vqksnssfhg lstasdimqk lslrqksaif cqqihenrad
      781 mdksqvatle eeqvhsqvky adinlkedii ksevplqtei lknklkvnlp dpvsitaqsk
      841 lsqinslenl ieqlrrelvf lrsqneiiaq eflikeaecr nadielehhr sqaeqnefls
      901 reliekerdl ersrtviakf qnklkelvee nkqleegmke ilqaikemqk dpdvkggets
      961 liipslerlv naiesknaeg ifdaslhlka qvdqltgrne elrqelresr keainysqql
     1021 akanlkidhl eketsllrqs egsnvvfkgi dlpdgiapss asiinsqney lihllqelen
     1081 kekklknled sledynrkfa virhqqslly keylseketw ktesktikee krkledqvqq
     1141 daikvkeynn llnalqmdsd emkkilaens rkitvlqvne kslirqyttl velerqlrke
     1201 nekqknells meaevcekig clqrfkemai fkiaalqkvv dnsvslsele lankqynelt
     1261 akyrdilqkd nmlvqrtsnl ehlecenisl keqvesinke leitkeklht ieqaweqetk
     1321 lgnessmdka kksitnsdiv siskkitmle mkelnerqra ehcqkmyehl rtslkqmeer
     1381 nfeletkfae ltkinldaqk veqmlrdela dsvskavsda drqrilelek nemelkvevs
     1441 klreisdiar rqveilnaqq qsrdkevesl rmqlldyqaq sdeksliakl hqhnvslqls
     1501 eatalgkles itsklqkmea ynlrleqkld ekeqalyyar legrnrakhl rqtiqslrrq
     1561 fsgalplaqq ekfsktmiql qndklkimqe mknsqqehrn menktlemel klkgleelis
     1621 tlkdtkgaqk vinwhmkiee lrlqelklnr elvkdkeeik ylnniiseye rtissleeei
     1681 vqqnkfheer qmawdqrevd lerqldifdr qqneilnaaq kfeeatgsip dpslplpnql
     1741 eialrkiken iriiletrat cksleeklke kesalrlaeq nilsrdkvin elrlrlpata
     1801 erekliaelg rkemepkshh tlkiahqtia nmqarlnqke evlkkyqrll ekareeqrei
     1861 vkkheedlhi lhhrlelqad sslnkfkqta wdlmkqsptp vptnkhfirl aemeqtvaeq
     1921 ddslssllvk lkkvsqdler qreitelkvk efeniklqlq enhedevkkv kaevedlkyl
     1981 ldqsqkesqc lkselqaqke ansraptttm rnlverlksq lalkekqqka lsrallelra
     2041 emtaaaeeri isatsqkeah lnvqqivdrh trelktqved lnenllklke alktsknren
     2101 sltdnlndln nelqkkqkay nkilrekeei dqendelkrq ikrltsglqg kpltdnkqsl
     2161 ieelqrkvkk lenqlegkve evdlkpmkek nakeelirwe egkkwqakie girnklkeke
     2221 gevftltkql ntlkdlfaka dkekltlqrk lkttgmtvdq vlgiralese keleelkkrn
     2281 ldlendilym rahqalprds vvedlhlqnr ylqeklhale kqfskdtysk psqnqisgie
     2341 sddhcqreqe lqkenlklss enielkfqle qankdlprlk nqvrdlkemc eflkkekaev
     2401 qrklghvrgs grsgktipel ektiglmkkv vekvqreneq lkkasgilts ekmanieqen
     2461 eklketdaae klriaknnle ilnekmtvql eetgkrlqfa esrgpqlega dskswksivv
     2521 trmyetklke letdiakknq sitdlkqlvk eatereqkvn kynedleqqi kilkhvpega
     2581 eteqglkrel qvlrlanhql dkekaelihq ieankdqsga estipdadql kekikdletq
     2641 lkmsdlekqh lkeeikklkk elenfdpsff eeiedlkyny keevkknill eekvkklseq
     2701 lgveltspva aseefedeee spvnfpiy
//
LOCUS       XP_054230251            1448 aa            linear   PRI 20-MAR-2023
DEFINITION  sister chromatid cohesion protein PDS5 homolog B isoform X1 [Homo
            sapiens].
ACCESSION   XP_054230251
VERSION     XP_054230251.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374276.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1448
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1448
                     /product="sister chromatid cohesion protein PDS5 homolog B
                     isoform X1"
                     /calculated_mol_wt=164624
     CDS             1..1448
                     /gene="PDS5B"
                     /gene_synonym="APRIN; AS3; CG008"
                     /coded_by="XM_054374276.1:160..4506"
                     /db_xref="GeneID:23047"
                     /db_xref="HGNC:HGNC:20418"
                     /db_xref="MIM:605333"
ORIGIN      
        1 mahsktrtnd gkityppgvk eisdkiskee mvrrlkmvvk tfmdmdqdse eekelylnla
       61 lhlasdfflk hpdkdvrllv accladifri yapeapytsp dklkdifmfi trqlkgledt
      121 kspqfnryfy lleniawvks ynicfeleds neiftqlyrt lfsvinnghn qkvhmhmvdl
      181 mssiicegdt vsqelldtvl vnlvpahknl nkqaydlaka llkrtaqaie pyitnffnqv
      241 lmlgktsisd lsehvfdlil elynidshll lsvlpqlefk lksndneerl qvvkllakmf
      301 gakdselasq nkplwqcylg rfndihvpir lecvkfashc lmnhpdlakd lteylkvrsh
      361 dpeeairhdv ivsivtaakk dillvndhll nfvrertldk rwrvrkeamm glaqiykkya
      421 lqsaagkdaa kqiawikdkl lhiyyqnsid drllverifa qymvphnlet termkclyyl
      481 yatldlnavk alnemwkcqn llrhqvkdll dlikqpktda svkaifskvm vitrnlpdpg
      541 kaqdfmkkft qvleddekir kqlevlvspt csckqaegcv reitkklgnp kqptnpflem
      601 ikflleriap vhidtesisa likqvnksid gtaddedegv ptdqairagl ellkvlsfth
      661 pisfhsaetf esllaclkmd dekvaeaalq ifkntgskie edfphirsal lpvlhhkskk
      721 gpprqakyai hcihaifssk etqfaqifep lhksldpsnl ehlitplvti ghiallapdq
      781 faaplkslva tfivkdllmn drlpgkkttk lwvpdeevsp etmvkiqaik mmvrwllgmk
      841 nnhsksgtst lrllttilhs dgdlteqgki skpdmsrlrl aagsaivkla qepcyheiit
      901 leqyqlcala indecyqvrq vfaqklhkgl srlrlpleym aicalcakdp vkerraharq
      961 clvkninvrr eylkqhaavs ekllsllpey vvpytihlla hdpdyvkvqd ieqlkdvkec
     1021 lwfvleilma knennshafi rkmvenikqt kdaqgpddak mneklytvcd vamniimsks
     1081 ttyslespkd pvlparfftq pdknfsntkn ylppemksff tpgkpkttnv lgavnkplss
     1141 agkqsqtkss rmetvsnass ssnpsspgri kgrldssemd hsenedytms splpgkksdk
     1201 rddsdlvrse lekprgrkkt pvteqeeklg mddltklvqe qkpkgsqrsr krghtasesd
     1261 eqqwpeekrl kedilenede qnsppkkgkr grppkplggg tpkeeptmkt skkgskkksg
     1321 ppapeeeeee erqsgnteqk skskqhrvsr raqqsraesp essaiestqs tpqkgrgrps
     1381 ktpspsqpkk nvrvgrskqa atkendssee vdvfqgsspv ddipqeetee eevstvnvrr
     1441 rsakrerr
//
LOCUS       XP_054231241             486 aa            linear   PRI 20-MAR-2023
DEFINITION  gephyrin isoform X12 [Homo sapiens].
ACCESSION   XP_054231241
VERSION     XP_054231241.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375266.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..486
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..486
                     /product="gephyrin isoform X12"
                     /calculated_mol_wt=53106
     CDS             1..486
                     /gene="GPHN"
                     /gene_synonym="GEPH; GPH; GPHRYN; HKPX1; MOCODC"
                     /coded_by="XM_054375266.1:102..1562"
                     /db_xref="GeneID:10243"
                     /db_xref="HGNC:HGNC:15465"
                     /db_xref="MIM:603930"
ORIGIN      
        1 mapqtterat aslqlhrkle elrdhlegnv kgyslrvnvq srcsskenil rashsavdit
       61 kvarrhrmsp fpltsmdkaf itvlemtpvl gteiinyrdg mgrvlaqdvy akdnlppfpa
      121 svkdgyavra adgpgdrfii gesqageqpt qtvmpgqvmr vttgapipcg adavvqvedt
      181 eliresddgt eelevrilvq arpgqdirpi ghdikrgecv lakgthmgps eigllatvgv
      241 tevevnkfpv vavmstgnel lnpeddllpg kirdsnrstl latiqehgyp tinlgivgdn
      301 pddllnalne gisradviit sggvsmgekd ylkqvldidl haqihfgrvf mkpglpttfa
      361 tldidgvrki ifalpgnpvs avvtcnlfvv palrkmqgil dprptiikar lscdvkldpr
      421 peyhrciltw hhqeplpwaq stgnqmssrl msmrsangll mlppkteqyv elhkgevvdv
      481 mvigrl
//
LOCUS       XP_054233623             179 aa            linear   PRI 20-MAR-2023
DEFINITION  signal peptidase complex catalytic subunit SEC11A isoform X1 [Homo
            sapiens].
ACCESSION   XP_054233623
VERSION     XP_054233623.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377648.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..179
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..179
                     /product="signal peptidase complex catalytic subunit
                     SEC11A isoform X1"
                     /calculated_mol_wt=20494
     CDS             1..179
                     /gene="SEC11A"
                     /gene_synonym="1810012E07Rik; SEC11L1; sid2895; SPC18;
                     SPCS4A"
                     /coded_by="XM_054377648.1:2047..2586"
                     /db_xref="GeneID:23478"
                     /db_xref="HGNC:HGNC:17718"
                     /db_xref="MIM:618258"
ORIGIN      
        1 mlsldflddv rrmnkrqlyy qvlnfgmivs salmiwkglm vitgsespiv vvlsgsmepa
       61 fhrgdllflt nrvedpirvg eivvfriegr eipivhrvlk ihekqnghik fltkgdnnav
      121 ddrglykqgq hwlekkdvvg rargfvpyig ivtilmndyp kfkyavlfll glfvlvhre
//
LOCUS       XP_054235150             692 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium/nucleoside cotransporter 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054235150
VERSION     XP_054235150.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379175.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..692
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..692
                     /product="sodium/nucleoside cotransporter 1 isoform X1"
                     /calculated_mol_wt=76336
     CDS             1..692
                     /gene="SLC28A1"
                     /gene_synonym="CNT1; HCNT1; URCTU"
                     /coded_by="XM_054379175.1:424..2502"
                     /db_xref="GeneID:9154"
                     /db_xref="HGNC:HGNC:11001"
                     /db_xref="MIM:606207"
ORIGIN      
        1 mendpsrrre sisltpvakg lenmgadfle sleegqlprs dlspaeirss wseaapkpfs
       61 rwrnlqpalr arsfcrehmq lfrwigtgll ctglsafllv aclldfqral alfvltcvvl
      121 tflghrllkr llgpklrrfl kpqghprlll wfkrglalaa flglvlwlsl dtsqrpeqlv
      181 sfagicvfva llfacskhhc avswravswg lglqfvlgll virtepgfia fewlgeqiri
      241 flsytkagss fvfgealvkd vfafqvlpii vffscvisvl yhvglmqwvi lkiawlmqvt
      301 mgttatetls vagnifvsqt eapllirpyl admtlsevhv vmtggyatia gsllgayisf
      361 gidatsliaa svmaapcala lsklvypeve eskfrreegv kltygdaqnl ieaastgaai
      421 svkvvaniaa nliaflavld finaalswlg dmvdiqglsf qlicsyilrp vaflmgvawe
      481 dcpvvaellg iklflnefva yqdlskykqc rlagaeewvg drkqwisvra evlttfalcg
      541 fanfssigim lggltsmvpq rksdfsqivl ralftgacvs lvnacmagil ymprgaevdc
      601 msllnttlss ssfeiyqccr eafqrqcmsq eqvedeartq hggthfssts kkavthrsrl
      661 ptrwthemll htllhvskfl psndsmcfsd gp
//
LOCUS       XP_054235957             147 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium-regulated heat-stable protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054235957
VERSION     XP_054235957.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379982.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..147
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..147
                     /product="calcium-regulated heat-stable protein 1 isoform
                     X1"
                     /calculated_mol_wt=15761
     CDS             1..147
                     /gene="CARHSP1"
                     /gene_synonym="CRHSP-24; CRHSP24; CSDC1"
                     /coded_by="XM_054379982.1:382..825"
                     /db_xref="GeneID:23589"
                     /db_xref="HGNC:HGNC:17150"
                     /db_xref="MIM:616885"
ORIGIN      
        1 mssepppppq ppthqasvgl ldtprsrers psplrgnvvp splptrrtrt fsatvrasqg
       61 pvykgvckcf crskghgfit padggpdifl hisdvegeyv pvegdevtyk mcsippknek
      121 lqavevvith lapgtkhetw sghviss
//
LOCUS       XP_054169991            2898 aa            linear   PRI 20-MAR-2023
DEFINITION  chromodomain-helicase-DNA-binding protein 9 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054169991
VERSION     XP_054169991.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314016.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2898
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2898
                     /product="chromodomain-helicase-DNA-binding protein 9
                     isoform X1"
                     /calculated_mol_wt=325977
     CDS             1..2898
                     /gene="CHD9"
                     /gene_synonym="AD013; CHD-9; CReMM; KISH2; PRIC320"
                     /coded_by="XM_054314016.1:16763..25459"
                     /db_xref="GeneID:80205"
                     /db_xref="HGNC:HGNC:25701"
                     /db_xref="MIM:616936"
ORIGIN      
        1 mtdpmmdffd danlfgetle glsddafvqp gpvslvdeln lgaefeplhi dslnhvqgtp
       61 thqkmtdfeq lnqfdsikfh hvnqsfgspa ehvlsphsqf ncspihpqnq pnglfpdvsd
      121 gspmwghqta ttisnqngsp fhqqghshsm hqnksfvahh dfalfqaneq qtqctslrsq
      181 qnrnnlnpgq nslsqsknfm nvsgphrvnv nhppqmtnas nsqqsismqq fsqtsnpsah
      241 fhkcsshqeg nfngpspnmt scsvsnsqqf sshysfssnh ispnsllqss avlasnhtnq
      301 tlsdftgsns fsphrgikqe stqhilnpnt slnsnnfqil hsshpqgnys nsklspvhmn
      361 fpdpvdsgtq mghfndhvet ngfssleenl lhqvesqtep ftgldpedll qegllphfde
      421 stfgqdnssh ildhdldrqf tshlvtrpsd maqtqlqsqa rswhssfsnh qhlhdrnhlc
      481 lqrqppsskk sdgsgtytkl qntqvrvmse kkqrkkvese skqekanrii seaiakaker
      541 gerniprvms penfptasve gkeekkgrrm kskpkdkdsk ktktcsklke ktkigkliit
      601 lgkkqkrkne ssdeisdaeq mpqhtlkdqd sqkrrsnrqi krkkyaedie gkqseeevkg
      661 smkikknsap lpgeqplqlf venpseedaa ivdkilssrt vkkeispgvm idteeffvky
      721 knysylhcew ateeqllkdk riqqkikrfk lrqaqrahff admeeepfnp dyvevdrvle
      781 vsfcedkdtg epviyylvkw cslpyedstw elkedvdlak ieefeqlqas rpdtrrldrp
      841 psniwkkidq srdykngnql reyqleglnw llfnwynrrn cilademglg ktiqsitfly
      901 eilltgirgp fliiaplsti anwerefrtw tdinvvvyhg slisrqmiqq yemyfrdsqg
      961 riirgayrfq aiittfemil ggcgelnaie wrcviideah rlknknckll eglklmnleh
     1021 kvlltgtplq ntveelfsll hfleplrfps estfmqefgd lkteeqvqkl qailkpmmlr
     1081 rlkedvekkl apkeetiiev eltniqkkyy raileknfsf lskgagqtnv pnlvntmmel
     1141 rkccnhpyli kgaeekilge frdtynpaas dfhlqamiqs agklvlidkl lpkmkagghk
     1201 vlifsqmvrc ldiledylih krylyeridg rvrgnlrqaa idrfskpdsd rfvfllctra
     1261 gglginltaa dtciifdsdw npqndlqaqa rchrigqnka vkvyrlvtrn syeremfdra
     1321 slklgldkav lqsmsgresn vggiqqlskk eiedllrrga ygaimeeede gskfceedid
     1381 qillrrtkti tiesegrgst fakasfvasg nrtdislddp nfwqkwakka eidieaisgr
     1441 nslvidtpri rkqtrpfsat kdelaelsea esegdekpkl rrpcdrsngy grtecfrvek
     1501 nllvygwgrw reilshgrfk rqlnehdvei icrallaycl vhyrgdekik gfiwdlitpt
     1561 edgqtrelqn hlglsapvpr grkgkkvktq tssfdiqkae wlrkynpeql lqdegykkhi
     1621 khhcnkvllr vrmlyylkqe vignecqkvf dgvdasdidv wvpepdhsev paewwdfdad
     1681 kslligvfkh gyekyntira dpalcflerv gkpdekavaa eqrandymdg dvedpeykpa
     1741 paifkddied dvsspgdlvi adgdgqlmeg dkvywptqsa lttrlrrlit ayqrtnknrq
     1801 iqqiqptfsv ptsvmqpiye eatlnpkmaa kierqqrwtr reeadfyrvv stfgvvfdpd
     1861 rgqfdwtkfr amarlhkktd dslekylyaf msmcrrvcrl pskeelvdpn ifiqpiteer
     1921 asrtlyriel lrkvreqalr hpqlferlkl chpnpdlpvw wecgphdrdl ligaakhgvs
     1981 rtdyhilrdp elsfmaaqrn ysqskmahsr tstpllqqyq valsasplts lprlldakgi
     2041 ileemkvkse nlkeepqsse eesmssvetr tliksepvsp kngvlpqatg dqksggkcet
     2101 drrmvaarte pltpnpaskk prvhkrgses ssdsdsdser sscssrssss ssssscshsr
     2161 sgssssssss cssassssss stssssssss ssseesdsde eeaqkraest thmkaydees
     2221 vaslsttqde tqdsfqmnng tpesayilqg gymlaasywp kdrvminrld sicqtvlkgk
     2281 wpsarrsyda ntvasfyttk lldspgaate ysepsvptpp gagvkeehdq stqmskvkkh
     2341 vrekeftvki kdegglkltf qkqglaqkrp fdgedgalgq qqyltrlrel qsasetslvn
     2401 fpksipvsgt siqptlgang vildnqpivk krrgrrknve gvdifffnrn kppnhvslgl
     2461 tssqistgin palsytqpqg ipdtespvpv inlkdgtrla gddapkrkdl ekwlkehpgy
     2521 vedlgafipr mqlhegrpkq krhrcrnpnk ldvnsltgee rvqlinrrna rkvggafapp
     2581 lkdlcrflke nseygvapew gdvvkqsgfl pesmyerilt gpvvreevsr rgrrpksgia
     2641 kataaaaaas atsvsgnpll angllpgvdl ttlqalqqnl qnlqslqvta glmgmptglp
     2701 sggeaknmaa mfpmllsgma glpnllgmgg lltkptesgt edkkgsdske segktertes
     2761 qssenggens vssspstsst aalntaaaan plalnpllls nilypgmllt pglnlhiptl
     2821 sqsntfdvqn knsdlgssks vevkeedsri kdqedkggte psplnenstd egsekadass
     2881 gsdstsssse dsdssned
//
LOCUS       XP_054170867            1268 aa            linear   PRI 20-MAR-2023
DEFINITION  synergin gamma isoform X30 [Homo sapiens].
ACCESSION   XP_054170867
VERSION     XP_054170867.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314892.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1268
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1268
                     /product="synergin gamma isoform X30"
                     /calculated_mol_wt=135415
     CDS             1..1268
                     /gene="SYNRG"
                     /gene_synonym="AP1GBP1; SYNG"
                     /coded_by="XM_054314892.1:64..3870"
                     /db_xref="GeneID:11276"
                     /db_xref="HGNC:HGNC:557"
                     /db_xref="MIM:607291"
ORIGIN      
        1 malrpgagsg gggaagagag saggggfmfp vaggirppqa glmpmqqqgf pmvsvmqpnm
       61 qgimgmnyss qmsqgpiamq agipmgpmpa agmpylgqap flgmrppgpq ytpdmqkqfa
      121 eeqqkrfeqq qklleeerkr rqfeeqkqkl rllssvkpkt geksrddale aikgnldgfs
      181 rdakmhptpa shpkkpgpsl eekflvscdi stsgqeqikl nasevghkal gpgsskkyps
      241 lmasngvavd gcvsgtttae aentsdqnls ieesgvgvfp sqdpaqprmp pwiyneslvp
      301 daykkilett mtptgidtak lypilmssgl pretlgqiwa lanrttpgkl tkeelytvla
      361 miavtqrgvp amspdalnqf paapiptlsg fsmtlptpvs qptvipsgpa gsmplslgqp
      421 vmginlvgpv ggaaaqassg fiptypanqv vkpeeddfqd fqdasksgsl ddsfsdfqel
      481 passktsnsq hgnsapsllm plpgtkalps mdkyavfkgi aadkssentv ppgdpgdkys
      541 afreleqtae nkplgesfae frsagtddgf tdfktadsvs plepptkdkt fppsfpsgti
      601 qqkqqtqvkn plnladldmf ssvncssekp lsfsavfsts ksvstpqstg saatmtalaa
      661 tktssladdf gefslfgeys glapvgeqdd fadfmafsns sisseqkpdd kydalkeeas
      721 pvpltsnvgs tvkggqnsta astkydvfrq lslegsglgv edlkdntpsg ksdddfadfh
      781 sskfssinsd kslgekavaf rhtkedsasv ksldlpsigg ssvgkedsed alsvqfdmkl
      841 advggdlkhv msdssldlpt vsgqhppaag sgspsatsil qkketsfgss enitmtslsk
      901 vttfvsedal pettfpalas fkdtipqtse qkeyenrdyk dftkqdlpta ersqeatcps
      961 passgasqet pnecsddfge fqsekpkisk fdflvatsqs kmksseemik selatfdlsv
     1021 qgshkrslsl gdkeisrssp spaleqpfrd rsntlnekpa lpvirdkykd ltgeveener
     1081 yayewqrclg salnvikkan dtlngissss vcteviqsaq gmeyllgvve vyrvtkrvel
     1141 gikatavcse klqqllkdid kvwnnligfm slatltpden sldfsscmlr pgiknaqela
     1201 cgvcllnvds rsrkeekpae ehpkkafnse tdsfklaygg hqyhascanf wincvepkpp
     1261 glvlpdll
//
LOCUS       XP_054171661            2028 aa            linear   PRI 20-MAR-2023
DEFINITION  protein TANC2 isoform X10 [Homo sapiens].
ACCESSION   XP_054171661
VERSION     XP_054171661.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315686.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2028
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2028
                     /product="protein TANC2 isoform X10"
                     /calculated_mol_wt=223747
     CDS             1..2028
                     /gene="TANC2"
                     /gene_synonym="IDDALDS; rols; ROLSA"
                     /coded_by="XM_054315686.1:539..6625"
                     /db_xref="GeneID:26115"
                     /db_xref="HGNC:HGNC:30212"
                     /db_xref="MIM:615047"
ORIGIN      
        1 mfrnslkmll tggkssrknr ssdggseepp drrqssvdsr qsrsgqggis tesdcafepd
       61 yavpplpvse gmqhirimeg msrslpsspl lthqsisvrl qpvkkltgda eqelgpppsv
      121 deaantlmtr lgfllgekvt evqpgdqysm evqdenqtsa itqrispcst ltsstasppa
      181 sspcstlppi stnatakdcs ygavtsptst lesrdsgiia tltsysenve rtkyagessk
      241 elgsggnikp wqsqkssmds clyrvdenmt astyslnkip ernletvlsq svqsiplylm
      301 prpnsvaats sahledlayl deqrhtplrt slrmprqsmg gartqqdlrv rfapyrppdi
      361 slkpllfevp sittesvfvg rdwvfheida qlqssnasvn qgvvivgnig fgktaiisrl
      421 valschgtrm rqiasdspha spkhvdanre lpltqppsah ssitsgscpg tpemrrrqee
      481 amrrlasqvv ayhycqadna ytclvpefvh nvaallcrsp qltayreqll rephlqsmls
      541 lrscvqdpma sfrrgvlepl enlhkerkip dedfiilidg lneaefhkpd ygdtivsfls
      601 kmigkfpswl klivtvrtsl qeitkllpfh rifldrleen eaidqdlqay ilhrihssse
      661 iqnnislngk mdnttfgkls shlktlsqgs ylylkltfdl iekgylvlks ssykvvpvsl
      721 sevyllqcnm kfptqssfdr vmpllnvava slhpltdehi fqainagsie gtlewedfqq
      781 rmenlsmfli krrdmtrmfv hpsfrewliw reegektkfl cdprsghtll afwfsrqegk
      841 lnrqqtielg hhilkahifk glskkvgvss silqglwisy steglsmala slrnlytpni
      901 kvsrllilgg aninyrtevl nnapilcvqs hlgytemval llefganvda ssesgltplg
      961 yaaaagylsi vvllckkrak vdhldkngqc alvhaalrgh levvkfliqc dwtmagqqqg
     1021 vfkkshaiqq aliaaasmgy teivsylldl pekdeeever aqinsfdslw getaltaaag
     1081 rgklevcrll leqgaavaqp nrrgavplfs tvrqghwqiv dlllthgadv nmadkqgrtp
     1141 lmmaaseghl gtvdfllaqg asialmdkeg ltalswaclk ghlsvvrslv dngaatdhad
     1201 kngrtpldla afygdaevvq flvdhgamie hvdysgmrpl dravgcrnts vvvtllkkga
     1261 kigpatwama tskpdimiil lsklmeegdm fykkgkvkea aqryqyalkk fpregfgedl
     1321 ktfrelkvsl llnlsrcrrk mndfgmaeef atkalelkpk syeayyarar akrsssrqfa
     1381 aaledlneai klcpnnreiq rlllrveeec rqmqqpqqpp pppqpqqqlp eeaepepqhe
     1441 diysvqdife eeyleqdven vsiglqtear psqglpviqs ppsspphrds ayisssplgs
     1501 hqvfdfrsss svgsptrqty qstspalspt hqnshyrpsp phtspahqgg syrfspppvg
     1561 gqgkeypspp psplrrgpqy rasppaesms vyrsqsgspv ryqqetsvsq lpgrpkspls
     1621 kmaqrpyqmp qlpvavpqqg lrlqpakaqi vrsnqpspav hsstviptga ygqvahsmas
     1681 kyqssqgdig vsqsrlvyqg siggivgdgr pvqhvqasls agaicqhggl tkedlpqrps
     1741 sayrggvrys qtpqigrsqs asyypvchsk ldlersssql gspdvshlir rpisvnpnei
     1801 kphpptprpl lhsqsvglrf spssnsisst snltptfrps ssiqqmeipl kpayerscde
     1861 lspvsptqgg ypseptrsrt tpfmgiidkt artqqyphlh qqnrtwavss vdtvlsptsp
     1921 gnlpqpesfs ppssisniaf ynktnnaqng hlleddyysp hgmlangsrg dllervsqas
     1981 sypdvkvart lpvaqayqdn lyrqlsrdsr qgqtspikpk rpfvesnv
//
LOCUS       XP_054172069            1103 aa            linear   PRI 20-MAR-2023
DEFINITION  lethal(2) giant larvae protein homolog 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054172069
VERSION     XP_054172069.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316094.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1103
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1103
                     /product="lethal(2) giant larvae protein homolog 1 isoform
                     X3"
                     /calculated_mol_wt=119431
     CDS             1..1103
                     /gene="LLGL1"
                     /gene_synonym="DLG4; HUGL; HUGL-1; HUGL1; Lgl1; LLGL;
                     Mgl1"
                     /coded_by="XM_054316094.1:49..3360"
                     /db_xref="GeneID:3996"
                     /db_xref="HGNC:HGNC:6628"
                     /db_xref="MIM:600966"
ORIGIN      
        1 mmkfrfrrqg adpqreklkq elfafnktve hgfpnqpsal afdpelrima igtrsgavki
       61 ygapgveftg lhrdaatvtq mhfltgqgrl lsllddsslh lweivhhngc ahleealsfq
      121 lpsrpgfdga saplsltrvt vvllvaagdi aalgtegssv ffldvttltl legqtlapge
      181 vlrsvpddyr cgkalgpves lqghlrdptk iligysrgll viwnqasqcv dhiflgnqql
      241 eslcwgrdss tvvsshsdgs yavwsvdags fptlqptvat tpygpfpcka inkilwrnce
      301 sgghfiifsg gmprasygdr hcvsvlraet lvtldftsri idfftvhstr pedefddpqa
      361 lavlleeelv vldlqtpgwp avpapylapl hssaitcsah vasvpaklwa rivsageqqs
      421 pqpvssalsw pitggrnlaq epsqrglllt ghedgtvrfw dasgvalrpl yklstaglfq
      481 tdcehadsla qaaeddwppf rkvgcfdpys ddprlgvqkv alckytaqmv vagtagqvlv
      541 lelsdvpveq avsvaiidll qdregftwkg herlsprtgp lpwpagfqpr vlvqclppaa
      601 vtavtlhtew slvafgtshg fglfdyqrks pvlarctlhp ndslamegpl srvkslkksl
      661 rqsfrrirks rvsgkkraan asskeanaql aeqacphdve mtpvqrriep rsaddslsgv
      721 vrclyfadtf lrdgahhgpt mwagtnsgsv fayalevpaa avggekrpeq aveavlgkev
      781 qlmhrapvva iavldgrgrp lpepyeasrd laqapdmqgg havliaseeq fkvftlpkvs
      841 aktkfkltah egcrvrkval atfasvaced yaetclaclt nlgdvhvfsv pglrpqvhys
      901 cirkedisgi ascvftrhgq gfylispsef erfslsarni teplcsldin wprdatqasy
      961 rirespklsq angtpsilla pqsldgspdp ahsmgpgpqv qrvlrvlvga ddllpvdtpe
     1021 ppeaalspms idsatsadtt ldttgdvtve dvkdflgkar tiptstcpar swsagslapa
     1081 wplnieprll tcrlhwdlls cpa
//
LOCUS       XP_054172343             360 aa            linear   PRI 20-MAR-2023
DEFINITION  archaemetzincin-2 isoform X1 [Homo sapiens].
ACCESSION   XP_054172343
VERSION     XP_054172343.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316368.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..360
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..360
                     /product="archaemetzincin-2 isoform X1"
                     /calculated_mol_wt=41133
     CDS             1..360
                     /gene="AMZ2"
                     /coded_by="XM_054316368.1:370..1452"
                     /db_xref="GeneID:51321"
                     /db_xref="HGNC:HGNC:28041"
                     /db_xref="MIM:615169"
ORIGIN      
        1 mqiirhseqt lktalisknp vlvsqyekld ageqrlmnea fqpasdlfgp itlhspsdwi
       61 tshpeapqdf eqffsdpyrk tpspnkrsiy iqsigslgnt riiseeyikw ltgyckayfy
      121 glrvkllepv pvsvtrcsfr vnenthnlqi hagdilkflk kkkpedafcv vgitmidlyp
      181 rdswnfvfgq asltdgvgif sfarygsdfy smhykgkvkk lkktsssdys ifdnyyipei
      241 tsvlllrsck tltheighif glrhcqwlac lmqgsnhlee adrrplnlcp iclhklqcav
      301 gfsiveryka lvrwiddess dtpgatpehs hedngnlpkp veafkewkew iikclavlqk
//
LOCUS       XP_054173110             312 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane and ubiquitin-like domain-containing protein 2
            isoform X3 [Homo sapiens].
ACCESSION   XP_054173110
VERSION     XP_054173110.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317135.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..312
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..312
                     /product="transmembrane and ubiquitin-like
                     domain-containing protein 2 isoform X3"
                     /calculated_mol_wt=32565
     CDS             1..312
                     /gene="TMUB2"
                     /gene_synonym="FP2653"
                     /coded_by="XM_054317135.1:393..1331"
                     /db_xref="GeneID:79089"
                     /db_xref="HGNC:HGNC:28459"
ORIGIN      
        1 mdsvdpassq amelsdvtli egvgnevmvv agvvvlilal vlawlstyva dsgsnqllga
       61 ivsagdtsvl hlghvdhlva gqgnpeptel phpsegndek aeeagegrgd stgeagaggg
      121 vepslehlld iqglpkrqag agssspeapl rsedstclpp spglitvrlk flndteelav
      181 arpedtvgal kskyfpgqes qmkliyqgrl lqdpartlrs lnitdncvih chrsppgsav
      241 pgpsaslaps ateppslgvn vgslmvpvfv vllgvvwyfr inyrqfftap atvslvgvtv
      301 ffsflvfgmy gr
//
LOCUS       XP_054173977            1369 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 94 isoform X22 [Homo sapiens].
ACCESSION   XP_054173977
VERSION     XP_054173977.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318002.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1369
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1369
                     /product="transmembrane protein 94 isoform X22"
                     /calculated_mol_wt=152508
     CDS             1..1369
                     /gene="TMEM94"
                     /gene_synonym="IDDCDF; KIAA0195"
                     /coded_by="XM_054318002.1:154..4263"
                     /db_xref="GeneID:9772"
                     /db_xref="HGNC:HGNC:28983"
                     /db_xref="MIM:618163"
ORIGIN      
        1 mlfkqaelwm phqgkgnkge ppsalglstr kalsvlkeql eavleghlre rkkcltwkev
       61 wrssflhhsn rcscfhwpga slmllavlll lgccggqpag srgvglvnas alflllllnl
      121 vligrqdrlk rreverrlrg iidqiqdalr dgreiqwpsa mypdlhmpfa pswslhwayr
      181 dghlvnlpvs llvegdiial rpgqesfasl rgikddehiv lepgdlfppf spppsprgev
      241 ergpqspqqh rlfrvletpv idnirwcldm alsrpvtald nerftvqsvm lhyavpvvla
      301 gflitnalrf ifsapgvtsw qytllqlqvn gvlpilpllf pvlwvlatac gearvlaqms
      361 kaspssllak fsedtlssyt eavssqemlr ciwghflrvl ggtsptlshs ssllhslgsv
      421 tvlccvdkqg ilswpnpspe tvlffsgkve pphsshedlt dglstrsfch peveeepher
      481 dallagslnn tlhlsneqer gdwpgeapkp pepyshhkah grskhpsgsn vsfsrdtegg
      541 eeepsktqpg mesdpyeaed fvcdyhleml slsqdqqnps ciqfddsnwq lhltslkplg
      601 lnvllnlcda svterlcrfs dhlcnialqe shsavlpvhv pwglcelarl igftpgakel
      661 fkqenhlaly rlpsaetmke tslgrlscvt krrpplshmi slfikdttts teqmlshgta
      721 dvvleactdf wdgadiypls gsdrkkvldf yqraclsgyc safaykpmnc alssqlngkc
      781 ielvqvpgqs siftmcelps tipikqnarr sswssdgige vlekedcmqa lsgqifmgmv
      841 ssqyqarldi vrlidglvna cirfvyfsle delkskvfae kmgletgwnc hisltpngdm
      901 pgseippssp shagslhddl nqvsrddaeg lllmeeeghs dlisfqptds dipsfledsn
      961 raklprgihq vrphlqnidn vpllvplftd ctpetmcemi kimqeygevt cclgssanlr
     1021 nsclflqsdi sialdplyps rcswetfgya tsismaqasd glsplqlsgq lnslpcsltf
     1081 rqeetisiir lieqarhaty girkcflfll qcqltlvviq flsclvqlpp llsttdilwl
     1141 scfcypllsi sllgkpphss imsmatgknl qsipkktqhy fllcfllkfs ltissclicf
     1201 gftlqsfcds srdrnltncs svmlpsnddr apawfedfan gllsaqklta alivlhtvfi
     1261 sithvhrtkp lwrkspltnl wwavtvpvvl lgqvvqtavd lqlwthrdsh vhfgledvpl
     1321 ltwllgclsl vlvvvtneiv klheirvrvr yqkrqklqfe tklgmnspf
//
LOCUS       XP_054175647             594 aa            linear   PRI 20-MAR-2023
DEFINITION  CLK4-associating serine/arginine rich protein isoform X2 [Homo
            sapiens].
ACCESSION   XP_054175647
VERSION     XP_054175647.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319672.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..594
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..594
                     /product="CLK4-associating serine/arginine rich protein
                     isoform X2"
                     /calculated_mol_wt=66225
     CDS             1..594
                     /gene="CLASRP"
                     /gene_synonym="CLASP; SFRS16; SWAP2"
                     /coded_by="XM_054319672.1:94..1878"
                     /db_xref="GeneID:11129"
                     /db_xref="HGNC:HGNC:17731"
                     /db_xref="MIM:618532"
ORIGIN      
        1 mwhearkher klrgmmvdyk kraerrreyy ekikkdpaqf lqvhgrackv hldsavalaa
       61 espvnmmpwq gdtnnmidrf dvrahldhip dytpplltti speqesderk cnyeryrglv
      121 qndfagisee qclyqiyide lygglqrpse dekkklaekk asigytyeds tvaevekaae
      181 kpeeeesaae eesnsdedev ipdidvevdv delnqeqvad lnkqattygm adgdfvrmlr
      241 kdkeeaeaik hakaleeeka mysgrrsrrq rrefrekrlr grkisppsya rrdsptydpy
      301 krspsessse srsrsrsptp greekitfit sfggsdeeaa aaaaaaaasg vttgkppapp
      361 qpggpapgrn asarrrssss sssssasrts ssrsssrsss rsrrgggyyr sgrharsrsr
      421 swsrsrsrsr rysrsrsrgr rhsgggsrdg hrysrsparr ggygprrrsr srshsgdryr
      481 rggrglrhhs ssrsrsswsl spsrsrsltr srshspspsq srsrsrsrsq spspsparek
      541 ltrpaaspav geklkktepa agketgaakv tqadasgeae tedaegaeqa vqgg
//
LOCUS       XP_054176171             260 aa            linear   PRI 20-MAR-2023
DEFINITION  immunoglobulin alpha Fc receptor isoform X1 [Homo sapiens].
ACCESSION   XP_054176171
VERSION     XP_054176171.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320196.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..260
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..260
                     /product="immunoglobulin alpha Fc receptor isoform X1"
                     /calculated_mol_wt=29133
     CDS             1..260
                     /gene="FCAR"
                     /gene_synonym="CD89; CTB-61M7.2; FcalphaR; FcalphaRI"
                     /coded_by="XM_054320196.1:341..1123"
                     /db_xref="GeneID:2204"
                     /db_xref="HGNC:HGNC:3608"
                     /db_xref="MIM:147045"
ORIGIN      
        1 mpfisakssp vipldgsvki qcqaireayl tqlmiiknst yreigrrlkf wnetdpefvi
       61 dhmdankagr yqcqyrighy rfrysdtlel vvtglygkpf lsadrglvlm pgenisltcs
      121 sahipfdrfs lakegelslp qhqsgehpan fslgpvdlnv sgiyrcygwy nrspylwsfp
      181 snalelvvtd sihqdyttqn lirmavaglv lvallailve nwhshtalnk easadvaeps
      241 wsqqmcqpgl tfartpsvck
//
LOCUS       XP_054176499             466 aa            linear   PRI 20-MAR-2023
DEFINITION  gastric inhibitory polypeptide receptor isoform X3 [Homo sapiens].
ACCESSION   XP_054176499
VERSION     XP_054176499.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320524.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..466
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..466
                     /product="gastric inhibitory polypeptide receptor isoform
                     X3"
                     /calculated_mol_wt=53025
     CDS             1..466
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /coded_by="XM_054320524.1:284..1684"
                     /db_xref="GeneID:2696"
                     /db_xref="HGNC:HGNC:4271"
                     /db_xref="MIM:137241"
ORIGIN      
        1 mttspilqll lrlslcglll qraetgskgq tagelyqrwe ryrrecqetl aaaeppsgla
       61 cngsfdmyvc wdyaapnata rascpwylpw hhhvaagfvl rqcgsdgqwg lwrdhtqcen
      121 pekneafldq rlilerlqvm ytvgyslsla tlllallils lfrrlhctrn yihinlftsf
      181 mlraaailsr drllprpgpy lgdqalalwn qalaacrtaq ivtqycvgan ytwllvegvy
      241 lhsllvlvgg seeghfryyl llgwgapalf vipwvivryl yentqcwern evkaiwwiir
      301 tpilmtilin flifirilgi llsklrtrqm rcrdyrlrla rstltlvpll gvhqvvfapv
      361 teeqargalr faklgfeifl ssfqgflvsv lycfinkevq seirrgwhhc rlrrslgeeq
      421 rqlperafra lpsgsgpgev ptsrglssgt lpgpgneasr elesyc
//
LOCUS       XP_054177833             653 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor E2-alpha isoform X5 [Homo sapiens].
ACCESSION   XP_054177833
VERSION     XP_054177833.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321858.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..653
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..653
                     /product="transcription factor E2-alpha isoform X5"
                     /calculated_mol_wt=67341
     CDS             1..653
                     /gene="TCF3"
                     /gene_synonym="AGM8; AGM8A; AGM8B; bHLHb21; E2A; E47;
                     ITF1; p75; TCF-3; VDIR"
                     /coded_by="XM_054321858.1:1439..3400"
                     /db_xref="GeneID:6929"
                     /db_xref="HGNC:HGNC:11633"
                     /db_xref="MIM:147141"
ORIGIN      
        1 mnqpqrmapv gtdkelsdll dfsmmfplpv tngkgrpasl agaqfggsgl edrpssgswg
       61 sgdqssssfd psrtfsegth fteshsslss stflgpglgg ksgergayas fgrdagvggl
      121 tqagflsgel alnspgplsp sgmkgtsqyy psysgssrrr aadgsldtqp kkvrkvppgl
      181 pssvyppssg edygrdatay psaktpssty papfyvadgs lhpsaelwsp pgqagfgpml
      241 gggssplplp pgsgpvgssg ssstfgglhq hermgyqlhg aevngglpsa ssfssapgat
      301 yggvsshtpp vsgadsllgs rgttagssgd algkalasiy spdhssnnfs sspstpvgsp
      361 qglagtsqwp ragapgalsp sydgglhgls kiedhldeai hvlrshavgt agdmhtllpg
      421 hgalasgftg pmslggrhag lvggshpedg lagstslmhn haalpsqpgt lpdlsrppds
      481 ysglgragat aaaseikree kedeentsaa dhseeekkel kaprartspd ededdllppe
      541 qkaerekerr vannarerlr vrdineafke lgrmcqlhln sekpqtklli lhqavsviln
      601 leqqvrernl npkaaclkrr eeekvsgvvg dpqmvlsaph pglseahnpa ghm
//
LOCUS       XP_054177837             654 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor E2-alpha isoform X4 [Homo sapiens].
ACCESSION   XP_054177837
VERSION     XP_054177837.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321862.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 8% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..654
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..654
                     /product="transcription factor E2-alpha isoform X4"
                     /calculated_mol_wt=67469
     CDS             1..654
                     /gene="TCF3"
                     /gene_synonym="AGM8; AGM8A; AGM8B; bHLHb21; E2A; E47;
                     ITF1; p75; TCF-3; VDIR"
                     /coded_by="XM_054321862.1:359..2323"
                     /db_xref="GeneID:6929"
                     /db_xref="HGNC:HGNC:11633"
                     /db_xref="MIM:147141"
ORIGIN      
        1 mnqpqrmapv gtdkelsdll dfsmmfplpv tngkgrpasl agaqfggsgl edrpssgswg
       61 sgdqssssfd psrtfsegth fteshsslss stflgpglgg ksgergayas fgrdagvggl
      121 tqagflsgel alnspgplsp sgmkgtsqyy psysgssrrr aadgsldtqp kkvrkvppgl
      181 pssvyppssg edygrdatay psaktpssty papfyvadgs lhpsaelwsp pgqagfgpml
      241 gggssplplp pgsgpvgssg ssstfgglhq hermgyqlhg aevngglpsa ssfssapgat
      301 yggvsshtpp vsgadsllgs rgttagssgd algkalasiy spdhssnnfs sspstpvgsp
      361 qglagtsqwp ragapgalsp sydgglhglq skiedhldea ihvlrshavg tagdmhtllp
      421 ghgalasgft gpmslggrha glvggshped glagstslmh nhaalpsqpg tlpdlsrppd
      481 sysglgraga taaaseikre ekedeentsa adhseeekke lkaprartsp dededdllpp
      541 eqkaereker rvannarerl rvrdineafk elgrmcqlhl nsekpqtkll ilhqavsvil
      601 nleqqvrern lnpkaaclkr reeekvsgvv gdpqmvlsap hpglseahnp aghm
//
LOCUS       XP_054197654             190 aa            linear   PRI 20-MAR-2023
DEFINITION  hippocalcin-like protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054197654
VERSION     XP_054197654.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341679.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..190
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..190
                     /product="hippocalcin-like protein 1 isoform X2"
                     /calculated_mol_wt=21682
     CDS             1..190
                     /gene="HPCAL1"
                     /gene_synonym="BDR1; HLP2; VILIP-3"
                     /coded_by="XM_054341679.1:753..1325"
                     /db_xref="GeneID:3241"
                     /db_xref="HGNC:HGNC:5145"
                     /db_xref="MIM:600207"
ORIGIN      
        1 mgkqnsklrp evlqdlrent eftdhelqew ykgflkdcpt ghltvdefkk iyanffpygd
       61 askfaehvfr tfdtngdgti dfrefiials vtsrgkleqk lkwafsmydl dgngyisrse
      121 mleivqaiyk mvssvmkmpe destpekrtd kifrqmdtnn dvslgkppmv trcpnlppgl
      181 alptssegif
//
LOCUS       XP_054197842             894 aa            linear   PRI 20-MAR-2023
DEFINITION  inositol polyphosphate-4-phosphatase type I A isoform X27 [Homo
            sapiens].
ACCESSION   XP_054197842
VERSION     XP_054197842.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341867.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..894
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..894
                     /product="inositol polyphosphate-4-phosphatase type I A
                     isoform X27"
                     /calculated_mol_wt=100625
     CDS             1..894
                     /gene="INPP4A"
                     /gene_synonym="INPP4; TVAS1"
                     /coded_by="XM_054341867.1:394..3078"
                     /db_xref="GeneID:3631"
                     /db_xref="HGNC:HGNC:6074"
                     /db_xref="MIM:600916"
ORIGIN      
        1 mtarehsprh gararamqra stidvaadml glslagniqd pdepilefsl acselhtpsl
       61 drkpnsfvav svttppqafw tkhaqteiie gtnnpiflss iaffqdslin qmtqvklsvy
      121 dvkdrsqgtm yllgsgtfiv kdllqdrhhr lhltlrsaes drvgnitvig wqmeeksdqr
      181 ppvtrsvdtv ngrmvlpvde sltealgirs kyaslrkdtl lksvfggaic rmyrfpttdg
      241 nhlrileqma esvlslhvpr qfvkllleed aarvceleel gelspcwesl rrqivtqyqt
      301 iiltyqenlt dlhqyrgpsf kasslkadkk lefvptnlhi qrmrvqddgg sdqnydivti
      361 gapaahcqgf ksgglrkklh kfeetkkhts sgcqsiiyip qdvvrakeii aqintlktqv
      421 syyaerlsra akdrsatgle rtlailadkt rqlvtvcdck llansihgln aarpdyiask
      481 asptsteeeq vmlrndqdtl marwtgrnsr sslqvdwhee ewekvwlnvd ksleciiqrv
      541 dkllqkerlh gegcedvfpc agsctskkge wsealypllt tltdcvamms dkakkamvfl
      601 lmqdsaptia tylslqyrrd vvfcqtltal icgfiiklrn clhddgflrq lytigllaqf
      661 esllstygee lamledmslg imdlrnvtfk vtqatssasa dmlpvitgnr dgfnvrvplp
      721 gplfdalpre iqsgmllrvq pvlfnvgine qqtlaerfgd tslqevinve slvrlnsyfe
      781 qfkevlpedc lprsrsqtcl pellrflgqn vharknknvd ilwqaaeicr rlngvrftsc
      841 ksakdrtams vtleqclilq hehgmapqvf tqalecmrsr rvcrmkpgtk svyc
//
LOCUS       XP_054198381            1077 aa            linear   PRI 20-MAR-2023
DEFINITION  cysteine-rich motor neuron 1 protein isoform X1 [Homo sapiens].
ACCESSION   XP_054198381
VERSION     XP_054198381.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342406.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1077
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1077
                     /product="cysteine-rich motor neuron 1 protein isoform X1"
                     /calculated_mol_wt=118212
     CDS             1..1077
                     /gene="CRIM1"
                     /gene_synonym="CRIM-1; S52"
                     /coded_by="XM_054342406.1:516..3749"
                     /db_xref="GeneID:51232"
                     /db_xref="HGNC:HGNC:2359"
                     /db_xref="MIM:606189"
ORIGIN      
        1 mylvagdrgl agcghllvsl lglllllars gtralvclpc deskceeprn cpgsivqgvc
       61 gccytcasqr nescggtfgi ygtcdrglrc virpplngds lteyeagvce vfslndkiyg
      121 khgisdtpta prlpflkkel eepsdvssyl edenwtddql lgfkpcnenl iagcniingk
      181 cecntirtcs npfefpsqdm clsalkriee ekpdcskarc evqfsprcpe dsvliegyap
      241 pgeccplpsr cvcnpagclr kvcqpgnlni lvskasgkpg eccdlyeckp vfgvdcrtve
      301 cppvqqtacp pdsyetqvrl tadgcctlpt rceclsglcg fpvcevgstp rivsrgdgtp
      361 gkccdvfecv ndtkpacvfn nveyydgdmf rmdncrfcrc qggvaicfta qcgeincery
      421 yvpegeccpv cedpvypfnn pagcyangli lahgdrwred dctfcqcvng erhcvatvcg
      481 qtctnpvkvp geccpvceep tiitvdppac gelsnctltg kdcingfkrd hngcrtcqci
      541 nteelcserk qgctlncpfg fltdaqncei cecrprpkkc rpiicdkycp lgllknkhgc
      601 dicrckkcpe lscskicplg fqqdshgcli ckcreasasa gppilsgtcl tvdghhhkne
      661 eswhdgcrec yclngremca litcpvpacg nptihpgqcc pscaddfvvq kpelstpsic
      721 hapggeyfve getwnidsct qctchsgrvl cetevcppll cqnpsrtqds ccpqctdqpf
      781 rpslsrnnsv pnyckndegd iflaaeswkp dvctscicid sviscfsesc psvscerpvl
      841 rkgqccpyci edtipkkvvc hfsgkayade erwdldscth cyclqgqtlc stvscpplpc
      901 vepinvegsc cpmcpemyvp eptnipiekt nhrgevdlev plwptpsend ivhlprdmgh
      961 lqvdyrdnrl hpsedsslds iasvvvpiii clsiiiaflf inqkkqwipl lcwyrtptkp
     1021 sslnnqlvsv dckkgtrvqv dssqrmlria epdarfsgfy smqkqnhlqa dnfyqtv
//
LOCUS       XP_054199211             759 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 36B isoform X20 [Homo
            sapiens].
ACCESSION   XP_054199211
VERSION     XP_054199211.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343236.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..759
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..759
                     /product="ankyrin repeat domain-containing protein 36B
                     isoform X20"
                     /calculated_mol_wt=83625
     CDS             1..759
                     /gene="ANKRD36B"
                     /gene_synonym="KIAA1641"
                     /coded_by="XM_054343236.1:193..2472"
                     /db_xref="GeneID:57730"
                     /db_xref="HGNC:HGNC:29333"
ORIGIN      
        1 merlcsdgfa fphyyikpyh lkrihravlr gnleklkyll ltyydankrd rkertalhla
       61 catgqpemvh llvsrrceln lcdredrtpl ikavqlrqea catlllqnga dpnitdvfgr
      121 talhyavyne dtsmieklls hgtnieecsk neyqplllav srrkvkmvef llkkkanvna
      181 idylgrsali lavtlgekdi villlqhnid vfsrdvygkl aedyaseaen rvifdliyey
      241 krkryedlpi nsnpvspqkq raekatsddk dsvsniatei kegpisgtvs sqkqpaekat
      301 sdekdsvsni ateikegqqs gtvspqkqsa qkvifkkkvs llniatrimg ggksgtvssq
      361 kqpasktasd ktdsalntat eikdglqcgt vssqkqqalk attdeegsvs niateikdge
      421 ksgtvssqkk palkatsdek dsfsnitrek kdgeisrtvs sqkppalkat svkedsvlni
      481 arekkdgeks rtvsfeqppg lkatrdekds llniargkkd gektrrvssh kqpslkatsd
      541 kedsvpnmat etkdeqisgt vscqkqpalk atsdkkdsvs nipteikdgq qsgtvssqkq
      601 pawkatsvkk dsvsniatei kdgqirgtvs sqrrpalktt gdekdsvsni areikdgeks
      661 gtvspqkqsa qkvifkkkvs llniatritg ggksgteype nlrtlkatie nkdsvlntat
      721 kmkevqtstp eqdlemaseg eqkrleeyen nqpqivfty
//
LOCUS       XP_054199318             267 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial
            isoform X3 [Homo sapiens].
ACCESSION   XP_054199318
VERSION     XP_054199318.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343343.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 17% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..267
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..267
                     /product="tRNA N6-adenosine threonylcarbamoyltransferase,
                     mitochondrial isoform X3"
                     /calculated_mol_wt=29233
     CDS             1..267
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /coded_by="XM_054343343.1:496..1299"
                     /db_xref="GeneID:64172"
                     /db_xref="HGNC:HGNC:23075"
                     /db_xref="MIM:619634"
ORIGIN      
        1 meahaltirl tnkvefpflv llisgghcll alvqgvsdfl llgksldiap gdmldkvarr
       61 lslikhpecs tmsggkaieh lakqgnrfhf dikpplhhak ncdfsftglq hvtdkiimkk
      121 ekeegiekgq ilssaadiaa tvqhtmachl vkrthrailf ckqrdllpqn navlvasggv
      181 asnfyirral eiltnatqct llcppprlct dngimiawng ierlraglgi lhdiegirye
      241 pkcplgvdis kevgeasikv pqlkmei
//
LOCUS       XP_054200568            2034 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIP12 isoform X8 [Homo sapiens].
ACCESSION   XP_054200568
VERSION     XP_054200568.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344593.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2034
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2034
                     /product="E3 ubiquitin-protein ligase TRIP12 isoform X8"
                     /calculated_mol_wt=224900
     CDS             1..2034
                     /gene="TRIP12"
                     /gene_synonym="MRD49; TRIP-12; TRIPC; ULF"
                     /coded_by="XM_054344593.1:180..6284"
                     /db_xref="GeneID:9320"
                     /db_xref="HGNC:HGNC:12306"
                     /db_xref="MIM:604506"
ORIGIN      
        1 msnrpnnnpg gslrrsqrnt agaqpqddsi ggrshlgqak hkgysppesr ksnskapkvq
       61 snttselsrg hlskrscsss savivpqped pdrantserq ktgqvpkkdn srgvkrsasp
      121 dynrtnspss akkpkalqht espsetnkph skskkrhldq eqqlksaqsp stskahtrks
      181 gatggsrsqk rkrtesscvk sgsgsestga eersakptkl asksatsaka gcstitdsss
      241 aastsssssa vasasstvpp garvkqgkdq nkarrsrsas spsprrssre keqrsskset
      301 skpgpsglqa klaslrkstk krsesppael pslrrstrqk ttgscastsr rgsglgkrga
      361 aearrqekma dpesnqeavn ssaartdeap qgaaasssva gavgmttsge sesddsemgr
      421 lqalleargl pphlfgplgp rmsqlfhrti gsgasskaqq llqglqasde sqqlqaviem
      481 cqllvmgnee tlggfpvksv vpalitllqm ehnfdimnha craltymmea lprssavvvd
      541 aipvfleklq viqcidvaeq altalemlsr rhskailqag gladcllyle ffsinaqrna
      601 laiaanccqs itpdefhfva dslplltqrl thqdkksves tclcfarlvd nfqheenllq
      661 qvaskdlltn vqqllvvtpp ilssgmfimv vrmfslmcsn cptlavqlmk qniaetlhfl
      721 lcgasngscq eqidlvprsp qelyeltsli celmpclpke gifavdtmlk kgnaqntdga
      781 iwqwrddrgl whpynridsr iievaahqvg edeislstlg rvytidfnsm qqinedtgta
      841 raiqrkpnpl ansntsgyse skkddaraql mkedpelaks fiktlfgvly evysssagpa
      901 vrhkclrail riiyfadael lkdvlknhav sshiasmlss qdlkivvgal qmaeilmqkl
      961 pdifsvyfrr egvmhqvkhl aeseslltsp pkactngsgs mgsttsvssg tataathaaa
     1021 dlgspslqhs rddsldlspq grlsdvlkrk rlpkrgprrp kyspprdddk vdnqaksptt
     1081 tqspkssfla slnpktwgrl stqsnsnnie partaggsgl araaskdtis nnrekikgwi
     1141 keqahkfver yfssenmdgs npalnvlqrl caateqlnlq vdggaeclve irsivsesdv
     1201 ssfeiqhsgf vkqlllylts ksekdavsre irlkrflhvf fssplpgeep igrvepvgna
     1261 pllalvhkmn nclsqmeqfp vkvhdfpsgn gtggrgsqal kffnthqlkc qlqrhpdcan
     1321 vkqwkggpvk idplalvqai erylvvrgyg rvreddedsd ddgsdeeide slaaqflnsg
     1381 nvrhrlqfyi gehllpynmt vyqavrqfsi qaederestd desnplgrag iwtkthtiwy
     1441 kpvredeesn kdcvggkrgr aqtaptktsp rnakkhdelw hdgvcpsvsn plevyliptp
     1501 penitfedps ldvilllrvl haisrywyyl ydnamckeii ptsefinskl takanrqlqd
     1561 plvimtgnip twltelgktc pfffpfdtrq mlfyvtafdr dramqrlldt npeinqsdsq
     1621 dsrvaprldr kkrtvnreel lkqaesvmqd lgssramlei qyenevgtgl gptlefyalv
     1681 sqelqradlg lwrgeevtls npkgsqegtk yiqnlqglfa lpfgrtakpa hiakvkmkfr
     1741 flgklmakai mdfrlvdlpl glpfykwmlr qetsltshdl fdidpvvars vyhledivrq
     1801 kkrleqdksq tkeslqyale tltmngcsve dlgldftlpg fpnielkkgg kdipvtihnl
     1861 eeylrlvifw alnegvsrqf dsfrdgfesv fplshlqyfy peeldqllcg skadtwdakt
     1921 lmeccrpdhg ythdsravkf lfeilssfdn eqqrlflqfv tgsprlpvgg frslnpplti
     1981 vrktfesten pddflpsvmt cvnylklpdy ssieimrekl liaaregqqs fhls
//
LOCUS       XP_054179515             895 aa            linear   PRI 20-MAR-2023
DEFINITION  ras and Rab interactor 2 isoform X4 [Homo sapiens].
ACCESSION   XP_054179515
VERSION     XP_054179515.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323540.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..895
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..895
                     /product="ras and Rab interactor 2 isoform X4"
                     /calculated_mol_wt=100033
     CDS             1..895
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /coded_by="XM_054323540.1:254..2941"
                     /db_xref="GeneID:54453"
                     /db_xref="HGNC:HGNC:18750"
                     /db_xref="MIM:610222"
ORIGIN      
        1 mtawtmgarg ldkrgsffkl idtiaseige lkqemvrtdv nlenglepae thsmvrhkdg
       61 gyseeedvkt cardsgydsl snrlsildrl lhthpiwlql slseeeaaev lqaqppgifl
      121 vhkstkmqkk vlslrlpcef gaplkefaik estytfsleg sgisfadlfr liafycisrd
      181 vlpftlklpy aistakseaq leelaqmgln fwsspadskp pnlppphrpl ssdgvcpasl
      241 rqlclingvh siktrtpsel ecsqtngalc finplflkvh sqdlsgglkr pstrtpnang
      301 tertrspppr ppppainslh tsprlartet qtsmpetvnh nkhgnvalpg tkptpipppr
      361 lkkqasflea eggaktlsgg rpgagpelel gtagspggap peaapgdctr apppssesrp
      421 pchggrqrls dmsistsssd slefdrsmpl fgyeadtnss ledyegesdq etmappiksk
      481 kkrsssfvlp klvksqlqkv sgvfssfmtp ekrmvrriae lsrdkctyfg clvqdyvsfl
      541 qenkechvss tdmlqtirqf mtqvknylsq sseldppies lipedqidvv lekamhkcil
      601 kplkghveam lkdfhmadgs wkqlkenlql vrqrnpqelg vfaptpdfvd vekikvkfmt
      661 mqkmyspekk vmlllrvckl iytvmennsg rmygaddflp vltyviaqcd mleldteiey
      721 mmelldpsll hgeggyylts aygalslikn fqeeqaarll ssetrdtlrq whkrrttnrt
      781 ipsvddfqny lrvafqevns gctgktllvr pyittedvcq icaekfkvgd peeyslflfv
      841 detwqqlaed typqkikael hsrpqphifh fvykrikndp ygiifqngee dltts
//
LOCUS       XP_054180311             719 aa            linear   PRI 20-MAR-2023
DEFINITION  lebercilin-like protein isoform X1 [Homo sapiens].
ACCESSION   XP_054180311
VERSION     XP_054180311.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324336.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..719
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..719
                     /product="lebercilin-like protein isoform X1"
                     /calculated_mol_wt=82209
     CDS             1..719
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /coded_by="XM_054324336.1:367..2526"
                     /db_xref="GeneID:150082"
                     /db_xref="HGNC:HGNC:1255"
ORIGIN      
        1 msladltktn idehffsval ennrrsaack rspgtgdfsr nsnasnksvd ysrsqcscgs
       61 lssqydysed flcdcsekai nrnylkqpvv kekekkkynv skisqskvnr wpcyrvpqyl
      121 dftgflpfis aeesvfelpv kckylsqhpk rmvsksgqke isvekkhtwn aslfnsqihm
      181 iaqrrdamah rilsarlhki kglkneladm hhkleailte nqflkqlqlr hlkaigkyen
      241 sqnnlpqima khqnevknlr qllrksqeke rtlsrklret dsqllktkdi lqalqklsed
      301 knlaereelt hklsiittkm dandkkiqsl ekqlrlncra fsrqlaietr ktlaaqtatk
      361 tlqvevkhlq qklkekdrel eikniyshri lknlhdtedy pkvsstksvq adrkilpfts
      421 mrhqgtqksd vpplttkgkk atgnidhkek steinheiph cvnklpkqed skrkyedlsg
      481 eekhlevqil lentgrqkdk kedqekknif vkeeqelppk iievihpere snqedvlvre
      541 kfkrsmqrng vddtlgkgta pytkgplrqr rhysfteate nlhhglpasg gpanagnmry
      601 shstgkhlsn reemelehsd sgyepsfgks srikvkdttf rdkksslmee lfgsgyvlkt
      661 dqsspgvakg seeplqskes hplppsqast shafgdskvt vvnsikpssp tegkrkiii
//
LOCUS       XP_054180644             215 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Mis18-alpha isoform X2 [Homo sapiens].
ACCESSION   XP_054180644
VERSION     XP_054180644.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324669.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..215
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..215
                     /product="protein Mis18-alpha isoform X2"
                     /calculated_mol_wt=23545
     CDS             1..215
                     /gene="MIS18A"
                     /gene_synonym="B28; C21orf45; C21orf46; FASP1;
                     hMis18alpha; MIS18alpha"
                     /coded_by="XM_054324669.1:36..683"
                     /db_xref="GeneID:54069"
                     /db_xref="HGNC:HGNC:1286"
                     /db_xref="MIM:618137"
ORIGIN      
        1 magvrslrcs rgcaggcecg dkgkcsdssl lgkrlsedss rhqllqkwas mwssmsedas
       61 vadmeraqle eeaaaaeerp lvflcsgcrr plgdslswva sqedtncill rcvscnvsvd
      121 keqklskrek engcvletlc cagcslnlgy vyrctpknld ykrdlfclsv eaieremmpg
      181 avkqilshgm svdlrlqslg swsrschclp rsclp
//
LOCUS       XP_054180747            1185 aa            linear   PRI 20-MAR-2023
DEFINITION  intersectin-1 isoform X21 [Homo sapiens].
ACCESSION   XP_054180747
VERSION     XP_054180747.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324772.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1185
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1185
                     /product="intersectin-1 isoform X21"
                     /calculated_mol_wt=134369
     CDS             1..1185
                     /gene="ITSN1"
                     /gene_synonym="ITSN; SH3D1A; SH3P17"
                     /coded_by="XM_054324772.1:626..4183"
                     /db_xref="GeneID:6453"
                     /db_xref="HGNC:HGNC:6183"
                     /db_xref="MIM:602442"
ORIGIN      
        1 mlgrlipekq ilndqlkqvq qnslhrdslv tlkraleake larqhlrdql deveketrsk
       61 lqeidifnnq lkelreihnk qqlqkqksme aerlkqkeqe rkiielekqk eeaqrraqer
      121 dkqwlehvqq edehqrprkl heeeklkree svkkkdgeek gkqeaqdklg rlfhqhqepa
      181 kpavqapwst aekgpltisa qenvkvvyyr alypfesrsh deitiqpgdi vmvkgewvde
      241 sqtgepgwlg gelkgktgwf panyaekipe nevpapvkpv tdstsapapk lalretpapl
      301 avtssepstt pnnwadfsst wptstnekpe tdnwdawaaq psltvpsagq lrqrsaftpa
      361 tatgsspspv lgqgekvegl qaqalypwra kkdnhlnfnk ndvitvleqq dmwwfgevqg
      421 qkgwfpksyv klisgpirks tsmdsgsses paslkrvasp aakpvvsgee fiamytyess
      481 eqgdltfqqg dvilvtkkdg dwwtgtvgdk agvfpsnyvr lkdsegsgta gktgslgkkp
      541 eiaqviasyt atgpeqltla pgqlilirkk npggwwegel qargkkrqig wfpanyvkll
      601 spgtskitpt eppkstalaa vcqvigmydy taqnddelaf nkgqiinvln kedpdwwkge
      661 vngqvglfps nyvklttdmd psqqwcsdlh lldmltpter krqgyiheli vteenyvndl
      721 qlvteifqkp lmeselltek evamifvnwk elimcnikll kalrvrkkms gekmpvkmig
      781 dilsaqlphm qpyirfcsrq lngaaliqqk tdeapdfkef vkrlamdprc kgmplssfil
      841 kpmqrvtryp liiknilent penhpdhshl khalekaeel csqvnegvre kensdrlewi
      901 qahvqcegls eqlvfnsvtn clgprkflhs gklykaksnk elygflfndf llltqitkpl
      961 gssgtdkvfs pksnlqykmy ktpiflnevl vklptdpsgd epifhishid rvytlraesi
     1021 nertawvqki kaaselyiet ekkkrekayl vrsqratgig rlmvnvvegi elkpcrshgk
     1081 snpycevtmg sqchitktiq dtlnpkwnsn cqffirdleq evlcitvfer dqfspddflg
     1141 rteirvadik kdqgskgpvt kclllhevpt geivvrldlq lfdep
//
LOCUS       XP_054182016            2610 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-XVIIIb isoform X2 [Homo sapiens].
ACCESSION   XP_054182016
VERSION     XP_054182016.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326041.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2610
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2610
                     /product="unconventional myosin-XVIIIb isoform X2"
                     /calculated_mol_wt=289610
     CDS             1..2610
                     /gene="MYO18B"
                     /gene_synonym="KFS4"
                     /coded_by="XM_054326041.1:114..7946"
                     /db_xref="GeneID:84700"
                     /db_xref="HGNC:HGNC:18150"
                     /db_xref="MIM:607295"
ORIGIN      
        1 mcnptfnllp assireedks pppssppplf svipggfikq lvrgtekeak earqrkqlav
       61 asperevete akrgqvifpr ssdqieaerg gepvcsllsq dawkrtslip eisisqpnsk
      121 sssgtrsgsq qisqddqsss pgssdilgke segsrspdpe qmtsingeka qelgssatpt
      181 kktvpfkrgv rrgdvllmva kldpdsakpe kthphdappc ktsppatdtg kekkgetsrt
      241 pcgsqastei lapkaektrt gglgdpgqgt valkkgeegq sivgkglgtp kttelkeaep
      301 qgkdrqgtrp qaqgpgegvr pgkaekegae ptntvekgnv skdvgsegkh vrpqipgrkw
      361 ggflgrrskw dgpqnkkdke gvllskaekt gepqtqmekt sqvqgelgdd lrmgekagel
      421 rsttgkages wdkkekmgqp qgksgnagea rsqtekgcea pkevstmves paapgkggwp
      481 gsrgqeaeep csragdgaga letelegpsq palekdaerp rirkenqdgp apqeegkggq
      541 srdsdqaped rwyeaekvwl aqkdgftlat vlkpdegtad lpagrvrlci dadktitevd
      601 eehvhranpp eldqvedlas lisvnessvl ntllqrykaq llhtctgpdl ivlqprgpsv
      661 psagkvpkgr rdglpahigs maqraywall nqrrdqsiva lgrsgagktt cceqvlehlv
      721 gmagsvdgrv svekiratft vlrafgsvsm ahsrsatrfs mvmsldfnat gritaaqlqt
      781 mlleksrvar qpegesnflv fsqmlagldl dlrtelnlhq madsssfgmg vwskpedkqk
      841 aaaafaqlqg amemlgises eqravwrvla aiyhlgaaga ckvgrkqfmr fewanyaaea
      901 lgceyeelnt atfkhhlrqi iqqmtfgpsr wgledeetss glkmtgvdcv egmasglyqe
      961 lfaavvslin rsfsshhlsm asimvvdspg fqnprhqgkd raatfeelch nyaherlqll
     1021 fyqrtfvstl qryqeegvpv qfdlpdpspg ttvavvdqnp sqqvrlpagg gaqdarglfw
     1081 vldeevhveg ssdsvvlerl caafekkgag tegssalrtc eqplqceifh qlgwdpvryd
     1141 ltgwlhrakp nlsaldapqv lqqskreelr slfqaraklp pvcravagle gtsqqalqrs
     1201 rmvrrtfass laavrrkapc sqiklqmdal tsmikrsrlh fihclvpnpv vesrsgqesp
     1261 pppqpgrdkp gaggplaldi palrvqlagf hilealrlhr tgyadhmglt rfrrqfqvld
     1321 apllkklmst segiderkav eelletldle kkavavghsq vflkagvisr lekqreklvs
     1381 qsivlfqaac kgflsrqefk klkirrlaaq ciqknvavfl avkdwpwwql lgslqpllsa
     1441 tigteqlrak eeelttlrrk lekseklrne lrqntdlles kiadltsdla derfkgdvac
     1501 qvleseraer lqafrevqel kskheqvqkk lgdvnkqlee aqqkiqlndl ernptggade
     1561 wqmrfdcaqm eneflrkrlq qceerldsel tarkeleqkl gelqsaydga kkmahqlkrk
     1621 chhltcdled tcvllenqqs rnhelekkqk kfdlqlaqal gesvfekglr ekvtqentsv
     1681 rwelgqlqqq lkqkeqeasq lkqqvemlqd hkrellgsps lgencvaglk erlwklessa
     1741 leqqkiqsqq entikqleql rqrfeleier mkqmhqkdre dqeeeledvr qscqkrlhql
     1801 emqleqeyee kqmvlhekqd legligtlcd qighrdfdve krlrrdlrrt hallsdvqll
     1861 lgtmedgkts vskeelekvh sqleqseakc eealktqkvl tadlesmhse lenmtrnksl
     1921 vdeqlyrlqf ekadllkrid edqddlnelm qkhkdliaqs aadigqiqel qlqleeakke
     1981 khklqeqlqv aqmrieyleq stvdraivsr qeavicdlen ktefqkvqik rfevlvirlr
     2041 dslikmgeel sqaatsesqq ressqyyqrr leelkadmee lvqreaeasr rcmelekyve
     2101 elaavrqtlq tdletsirri adlqaaleev assdsdtesv qtavdcgssg rkemdnvsil
     2161 ssqpegslqs wlsctlslat dtmrtpsrqs atssrilspr ineeagdter tqsalalsra
     2221 rstnvhskts gdkpvsphfv rrqkychfgd gevlavqrks terlepassp lasrstntsp
     2281 lsreklpsps aalsefvegl rrkraqrgqg stlgledwpt lpiyqttgas tlrrgragsd
     2341 egnlslrvga kspleiegaa ggllrstslk cissdgvggt tllpeksktq fssceslles
     2401 rpsmgrklss pttprdmlls ptlrprrrcl essvddagcp dlgkeplvfq nrqfahlmee
     2461 plgsdpfswk lpsldyerkt kvdfddflpa irkpqtptsl agsakggqdg sqrssihfet
     2521 eeanrsflsg iktilkkspe pkedpahlsd sssssgsivs fksadsiksr pgiprlagdg
     2581 gertsperre pgtgrkdddv asimkkylqk
//
LOCUS       XP_054202248            1018 aa            linear   PRI 20-MAR-2023
DEFINITION  ephrin type-A receptor 6 isoform X4 [Homo sapiens].
ACCESSION   XP_054202248
VERSION     XP_054202248.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346273.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 12% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1018
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1018
                     /product="ephrin type-A receptor 6 isoform X4"
                     /calculated_mol_wt=114661
     CDS             1..1018
                     /gene="EPHA6"
                     /gene_synonym="EHK-2; EHK2; EK12; EPA6; HEK12; PRO57066"
                     /coded_by="XM_054346273.1:456..3512"
                     /db_xref="GeneID:285220"
                     /db_xref="HGNC:HGNC:19296"
                     /db_xref="MIM:600066"
ORIGIN      
        1 menisikwgm ppfttssrlk kfwdaitemd ehnrpihtyq vcnvmepnqn nwlrtnwisr
       61 daaqkiyvem kftlrdcnsi pwvlgtcket fnlfymesde shgikfkpnq ytkidtiaad
      121 esftqmdlgd rilklnteir evgpierkgf ylafqdigac ialvsvrvfy kkcpftvrnl
      181 amfpdtiprv dssslvevrg scvksaeerd tpklycgadg dwlvplgrci cstgyeeieg
      241 schacrpgfy kafagntkcs kcpphsltym eatsvcqcek gyfraekdpp smactrppsa
      301 prnvvfnine talilewspp sdtggrkdlt ysvickkcgl dtsqcedcgg glrfiprhtg
      361 linnsvivld fvshvnytfe ieamngvsel sfspkpftai tvttdqdaps ligvvrkdwa
      421 sqnsialswq apafsngail dyeikyyekv ypriapafwh ylrveeheql tysstrskap
      481 sviitglkpa tkyvfhirvr tatgysgysq kfefetgdet sdmaaeqgqi lviataavgg
      541 ftllviltlf flitgrcqwy ikakmkseek rrnhlqnghl rfpgiktyid pdtyedpsla
      601 vhefakeidp sririervig agefgevcsg rlktpgkrei pvaiktlkgg hmdrqrrdfl
      661 reasimgqfd hpniirlegv vtkrsfpaig veafcpsflr agflnsiqap hpvpgggslp
      721 pripagrpvm ivveymengs ldsflrkhdg hftviqlvgm lrgiasgmky lsdmgyvhrd
      781 laarnilvns nlvckvsdfg lsrvleddpe aaytttggki pirwtapeai ayrkfssasd
      841 awsygivmwe vmsygerpyw emsnqdvils ieegyrlpap mgcpaslhql mlhcwqkern
      901 hrpkftdivs fldklirnps alhtlvedil vmpespgevp eyplfvtvgd wldsikmgqy
      961 knnfvaagft tfdlisrmsi ddirrigvil ighqrrivss iqtlrlhmmh iqekgfhv
//
LOCUS       XP_054205171             213 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase TRIML2 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054205171
VERSION     XP_054205171.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349196.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..213
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..213
                     /product="probable E3 ubiquitin-protein ligase TRIML2
                     isoform X4"
                     /calculated_mol_wt=24807
     CDS             1..213
                     /gene="TRIML2"
                     /gene_synonym="SPRYD6"
                     /coded_by="XM_054349196.1:526..1167"
                     /db_xref="GeneID:205860"
                     /db_xref="HGNC:HGNC:26378"
ORIGIN      
        1 mskrlspqlq hnitedayce thleptrlfc dvdqitlcsk cfqsqehkhh mvcgiqeaae
       61 nyrklfqeil ntsrekleaa ksiltdeqer mamiqeeeqn fkkmieseys mrlrllneec
      121 eqnlqrqqec isdlnlretl lnqaiklate leemfqemlq rlgrvgrenm eklkeseara
      181 seqvrsllkl ivelekkcge gtlallkeqv taa
//
LOCUS       XP_054205218             609 aa            linear   PRI 20-MAR-2023
DEFINITION  coagulation factor XI isoform X3 [Homo sapiens].
ACCESSION   XP_054205218
VERSION     XP_054205218.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349243.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..609
                     /product="coagulation factor XI isoform X3"
                     /calculated_mol_wt=68092
     CDS             1..609
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /coded_by="XM_054349243.1:109..1938"
                     /db_xref="GeneID:2160"
                     /db_xref="HGNC:HGNC:3529"
                     /db_xref="MIM:264900"
ORIGIN      
        1 miflyqvvhf ilftsvsgec vtqllkdtcf eggdittvft psakycqvvc tyhprcllft
       61 ftaespsedp trwftcvlkd svtetlprvn rtaaisgysf kqcshqisac nkdiyvdldm
      121 kginynssva ksaqecqerc tddvhchfft yatrqfpsle hrnicllkht qtgtptritk
      181 ldkvvsgfsl kscalsnlac irdifpntvf adsnidsvma pdafvcgric thhpgclfft
      241 ffsqewpkes qrnlcllkts esglpstrik kskalsgfsl qscrhsipel divaakshea
      301 cqklctnavr cqfftytpaq ascnegkgkc ylklssngsp tkilhgrggi sgytlrlckm
      361 dnecttkikp rivggtasvr gewpwqvtlh ttsptqrhlc ggsiignqwi ltaahcfygv
      421 espkilrvys gilnqseike dtsffgvqei iihdqykmae sgydiallkl ettvnytdsq
      481 rpiclpskgd rnviytdcwv tgwgyrklrd kiqntlqkak iplvtneecq kryrghkith
      541 kmicagyreg gkdackgdsg gplsckhnev whlvgitswg egcaqrerpg vytnvveyvd
      601 wilektqav
//
LOCUS       XP_054206536            1324 aa            linear   PRI 20-MAR-2023
DEFINITION  capping protein-inhibiting regulator of actin dynamics isoform X1
            [Homo sapiens].
ACCESSION   XP_054206536
VERSION     XP_054206536.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350561.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1324
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1324
                     /product="capping protein-inhibiting regulator of actin
                     dynamics isoform X1"
                     /calculated_mol_wt=147040
     CDS             1..1324
                     /gene="CRACD"
                     /gene_synonym="CRAD; KIAA1211"
                     /coded_by="XM_054350561.1:367..4341"
                     /db_xref="GeneID:57482"
                     /db_xref="HGNC:HGNC:29219"
                     /db_xref="MIM:618327"
ORIGIN      
        1 mameeskltk nvhneavsad vsdkkkggkf qpfkklfgkr kkkdpslfrv pslgkksysh
       61 qsvsngtfss deetlednlr sfnysmgtra fshdsifipd ggaeseqtvq amsqdnilgk
      121 vktlqqqlgk nikfgqrspn aipmnkansg easleedlfl tspmeivtqq divlsdaenk
      181 ssdtpsslsp lnlpgagsem eekvapvkps rpkrhfssag tiesvnldai plaiarldns
      241 aakhklavkp kkqrvskkhr rlaqdpqheq gglesrpcld qnghpgedkp twheeepnpl
      301 dseeerrrqe dywreleakc krqkaeaaek rrleeqrlqa lerrlweenr rqeileeege
      361 gqeppleaer apreeqqrsl eapgwedaer rerrerrere ererleaeee rrrlqaqaqa
      421 eerrrleeda rleerrrqee eegrcaeelk rqeeeeaegw eeleqqeaev qgppealeet
      481 gegrrgaeee dlgeeeeegq ahledwrgql sellndfeer ledqerlkpe gqrehseepg
      541 iceeqnpeae rrreqqgrsg dfqgadrpgp eekreegdte pllkqegpve aaqppverke
      601 aaaleqgrkv eelrwqevde rqtmprpytf qvssggkqil fpkvnlspvt pakdtgltaa
      661 pqepkapkas pvqhalpssl svphtailvt gaqlcgpavn lsqikdtack sllgleekkh
      721 aeapagenpp rgpgdarags gkakppqesp ssasalaewa sirsrilkna esdprsserd
      781 qlrpgdestp rgrcdsrgnq rktppvnakf simpawqkfs dggtetskqs teaesirkrp
      841 mlgpseetap qpppagvrel gkgpeksemh repadttegc kfakdlpsfl vpslpyppqk
      901 vvahteftts sdsetangia kpdpvmpgge ekaspfgikl rrtnyslrfn cdqqaeqkkk
      961 krhsstgdsa dagppaagsa rgekemegva lkhgpslpqe rkqapstrrd saepsssrsv
     1021 pvahpgpppa ssqtpapehd kaankmplaq kpalapkpts qtppasplsk lsrpylvell
     1081 srragrpdpe psepskedqe ssdrrppspp gpeerkgqkr deeeeaterk paspplpatq
     1141 qekpsqtpea grkekpmlqs rhsldgsklt ekvetaqplw itlalqkqkg freqqatree
     1201 rkqareakqa eklskenvsv svqpgsssvs ragslhksta lpeekrpeta vsrlerreql
     1261 kkantlptsv tveisdsapp aplvkevtkr fstpdaapvs tepawlalak rkakawsdcp
     1321 qiik
//
LOCUS       XP_054206602             442 aa            linear   PRI 20-MAR-2023
DEFINITION  UV-stimulated scaffold protein A isoform X8 [Homo sapiens].
ACCESSION   XP_054206602
VERSION     XP_054206602.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350627.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..442
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..442
                     /product="UV-stimulated scaffold protein A isoform X8"
                     /calculated_mol_wt=48980
     CDS             1..442
                     /gene="UVSSA"
                     /gene_synonym="KIAA1530; UVSS3"
                     /coded_by="XM_054350627.1:264..1592"
                     /db_xref="GeneID:57654"
                     /db_xref="HGNC:HGNC:29304"
                     /db_xref="MIM:614632"
ORIGIN      
        1 mdqklsklve elttsgeprl npekmkelkk icksseeqls rayrlliaql tqehaeirls
       61 afqiveelfv rshqfrmlvv snfqeflelt lgtdpaqplp ppreaaqrlr qattravegw
      121 nekfgeaykk lalgyhflrh nkkvdfqdtn arslaerkre eekqkhldki yqerasqaer
      181 emqemsgeie scltevescf rllvpfdfdp npeteslgma sgmsdalrss cagqvgpcrs
      241 gtpdprdgeq pccsrdlpas aghpraggga qpsqtatgdp sdededsdle efvrshglgs
      301 hkytldvelc seglkvqene dnlalihaar dtlklirnkf lpavcswiqr ftrvgthggc
      361 lkraidlkae lelvlrkyke ldiepegger rrgvissaap vlagtvstrg etlgkpsdgq
      421 egqrghwcpl gtssaapstv gp
//
LOCUS       XP_054206834             855 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Jade-1 isoform X3 [Homo sapiens].
ACCESSION   XP_054206834
VERSION     XP_054206834.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350859.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..855
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..855
                     /product="protein Jade-1 isoform X3"
                     /calculated_mol_wt=96855
     CDS             1..855
                     /gene="JADE1"
                     /gene_synonym="PHF17"
                     /coded_by="XM_054350859.1:439..3006"
                     /db_xref="GeneID:79960"
                     /db_xref="HGNC:HGNC:30027"
                     /db_xref="MIM:610514"
ORIGIN      
        1 mrfsgcllfp geimkrgrlp sssedsddng slsttwsqns rsqhrrsscs rhedrkpsev
       61 frtdlitamk lhdsyqlnpd eyyvladpwr qewekgvqvp vspgtipqpv arvvseeksl
      121 mfirpkkyiv ssgseppelg yvdirtlads vcrydlndmd aawleltnee fkemgmpeld
      181 eytmervlee feqrcydnmn haieteeglg ieydedvvcd vcqspdgedg nemvfcdkcn
      241 icvhqacygi lkvpegswlc rtcalgvqpk cllcpkkgga mkptrsgtkw vhvscalwip
      301 evsigspekm epitkvship ssrwalvcsl cnekfgasiq csvkncrtaf hvtcafdrgl
      361 emktilaend evkfksycpk hsshrkpees lgkgaaqeng apecsprnpl epfasleqnr
      421 eeahrvsvrk qklqqledef ytfvnlldva ralrlpeevv dflyqywklk rkvnfnkpli
      481 tpkkdeednl akreqdvlfr rlqlfthlrq dlervrnlty mvtrrekikr svckvqeqif
      541 nlytklleqe rvsgvpsscs ssslenmllf nspsvgpdap kiedlkwhsa ffrkqmgtsl
      601 vhslkkphkr dplqnspgse gktllkqpdl cgrregmvvp esflglektf aearlisaqq
      661 kngvvmpdhg krrdnrfhcd likgdlkdks fkqshkplrs tdvsqrhldn traatspgvg
      721 qsapgtrkei vpkcngslik vnynqtavkv pttpaspvkn wggfripkkg erqqqgeahd
      781 gachqhsdyp ylglgrvpak eraksklksd nendgyvpdv emsdseseas ekkcihtsst
      841 isrrtdiirr silas
//
LOCUS       XP_054208101             795 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 26 isoform X11 [Homo sapiens].
ACCESSION   XP_054208101
VERSION     XP_054208101.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352126.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..795
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..795
                     /product="rho GTPase-activating protein 26 isoform X11"
                     /calculated_mol_wt=89945
     CDS             1..795
                     /gene="ARHGAP26"
                     /gene_synonym="GRAF; GRAF1; OPHN1L; OPHN1L1"
                     /coded_by="XM_054352126.1:289..2676"
                     /db_xref="GeneID:23092"
                     /db_xref="HGNC:HGNC:17073"
                     /db_xref="MIM:605370"
ORIGIN      
        1 mrcghypyrv cviyqerhtq kcgscedlll ylssakrkfa dslnefkfqc igdaetddem
       61 ciarslqefa tvlrnleder irmienasev litplekfrk eqigaakeak kkydketeky
      121 cgilekhlnl sskkkesqlq eadsqvdlvr qhfyevsley vfkvqevqer kmfefvepll
      181 aflqglftfy hhgyelakdf gdfktqltis iqntrnrfeg trseveslmk kmkenplehk
      241 tispytmegy lyvqekrhfg tswvkhycty qrdskqitmv pfdqksggkg gedesvilks
      301 ctrrktdsie krfcfdveav drpgvitmqa lseedrrlwm eamdgrepvy nsnkdsqseg
      361 taqldsigfs iirkcihave trgineqgly rivgvnsrvq kllsvlmdpk tasetetdic
      421 aeweiktits alktylrmlp gplmmyqfqr sfikaaklen qesrvseihs lvhrlpeknr
      481 qmlqllmnhl anvannhkqn lmtvanlgvv fgptllrpqe etvaaimdik fqnivieili
      541 enhekifntv pdmpltnaql hlsrkkssds kppscserpl tlfhtvqste kqeqrnsiin
      601 sslesvssnp nsilnssssl qpnmnssdpd lavvkptrpn slppnpspts plspswpmfs
      661 apsspmptss tssdsspvrs vagfvwfsva avvlslarss lhavfsllvn fvpchpnlhl
      721 lfdrpeeavh edsstpfrka kalyackaeh dselsftagt vfdnaecpsa staiftatpk
      781 lrapppltwa lplaa
//
LOCUS       XP_054211896             301 aa            linear   PRI 20-MAR-2023
DEFINITION  ethylmalonyl-CoA decarboxylase isoform X1 [Homo sapiens].
ACCESSION   XP_054211896
VERSION     XP_054211896.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355921.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..301
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..301
                     /product="ethylmalonyl-CoA decarboxylase isoform X1"
                     /calculated_mol_wt=32866
     CDS             1..301
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /coded_by="XM_054355921.1:315..1220"
                     /db_xref="GeneID:55862"
                     /db_xref="HGNC:HGNC:21489"
                     /db_xref="MIM:612136"
ORIGIN      
        1 maksllktas lsgrtkllhq tglslystsh gfyeeevkkt lqqfpggsid lqkedngigi
       61 ltlnnpsrmn afsgvmmlql lekvielenw tegkglivrg akntfssgsd lnavkslgtp
      121 edgmavcmfm qntltrfmrl plisvalvqg walgggaeft tacdfrlmtp eskirfvhke
      181 mgiipswggt trlveiigsr qalkvlsgal kldsknalni gmveevlqss detksleeaq
      241 ewlkqfiqgp peviralkks vcsgrelyle ealqnerdll gtvwggpanl eaiakkgkfn
      301 k
//
LOCUS       XP_054213160             622 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase DTX2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054213160
VERSION     XP_054213160.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357185.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..622
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..622
                     /product="probable E3 ubiquitin-protein ligase DTX2
                     isoform X1"
                     /calculated_mol_wt=67187
     CDS             1..622
                     /gene="DTX2"
                     /gene_synonym="RNF58"
                     /coded_by="XM_054357185.1:603..2471"
                     /db_xref="GeneID:113878"
                     /db_xref="HGNC:HGNC:15973"
                     /db_xref="MIM:613141"
ORIGIN      
        1 mamapspslv qvytspaava vwewqdglgt whpysatvcs fieqqfvqqk gqrfglgsla
       61 hsiplgqadp slapyiidlp swtqfrqdtg tmravrrhlf pqhsapgrgv vwewlsddgs
      121 wtayeasvcd yleqqvargn qlvdlaplgy nytvnyttht qtnktssfcr svrrqagppy
      181 pvttiiappg htgvacschq clsgsrtgpv sgryrhsmtn lpaypvpqhp phrtasvfgt
      241 hqafapynkp slsgarsapr lnttnawgaa ppslgsqply rsslshlgpq hlppgsstsg
      301 avsaslpsgp ssspgsvpat vpmqmpkpsr vqqalagmts vlmsaiglpv clsrapqpts
      361 ppasrlasks hgsvkrlrkm svkeatpkpe pepeqvikny teelkvppde dciicmekls
      421 tasgysdvtd skaigslavg hltkcshafh llcllamycn gnkdgslqcp scktiygekt
      481 gtqpqgkmev lrfqmslpgh edcgtilivy siphgiqgpe hpnpgkpfta rgfprqcylp
      541 dnaqgrkvle llkvawkrrl iftvgtsstt getdtvvwne ihhktemdrn itghgypdpn
      601 ylqnvlaela aqgvtedcle qq
//
LOCUS       XP_054215519             166 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-protein thioesterase 1 isoform X7 [Homo sapiens].
ACCESSION   XP_054215519
VERSION     XP_054215519.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359544.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..166
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..166
                     /product="acyl-protein thioesterase 1 isoform X7"
                     /calculated_mol_wt=17850
     CDS             1..166
                     /gene="LYPLA1"
                     /gene_synonym="APT-1; APT1; hAPT1; LPL-I; LPL1"
                     /coded_by="XM_054359544.1:326..826"
                     /db_xref="GeneID:10434"
                     /db_xref="HGNC:HGNC:6737"
                     /db_xref="MIM:605599"
ORIGIN      
        1 mnvampswfd iiglspdsqe desgikqaae nikalidqev kngipsnrii lggfsqggal
       61 slytalttqq klagvtalsc wlplrasfpq gpigganrdi silqchgdcd plvplmfgsl
      121 tveklktlvn panvtfktye gmmhsscqqe mmdvkqfidk llppid
//
LOCUS       XP_054218280             198 aa            linear   PRI 20-MAR-2023
DEFINITION  sushi domain-containing protein 3 isoform X3 [Homo sapiens].
ACCESSION   XP_054218280
VERSION     XP_054218280.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362305.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..198
                     /product="sushi domain-containing protein 3 isoform X3"
                     /calculated_mol_wt=21091
     CDS             1..198
                     /gene="SUSD3"
                     /coded_by="XM_054362305.1:4321..4917"
                     /db_xref="GeneID:203328"
                     /db_xref="HGNC:HGNC:28391"
                     /db_xref="MIM:616429"
ORIGIN      
        1 mfrcpsnhqm vgsglltctw kgsiaewssg spvcklvpph etfgfkvavi asivscaiil
       61 lmsmafltcc llkcvkkskr rrsnrsaqlw sqlkdedlet vqaaylglkh fnkpvsgpsq
      121 ahdnhsfttd hgestsklas vtrsvdkdpg ipralslsgs ssspqaqvmv hmanprqplp
      181 asglatgmpq qpaayalg
//
LOCUS       XP_054218471            1176 aa            linear   PRI 20-MAR-2023
DEFINITION  KN motif and ankyrin repeat domain-containing protein 1 isoform X6
            [Homo sapiens].
ACCESSION   XP_054218471
VERSION     XP_054218471.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362496.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1176
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1176
                     /product="KN motif and ankyrin repeat domain-containing
                     protein 1 isoform X6"
                     /calculated_mol_wt=127821
     CDS             1..1176
                     /gene="KANK1"
                     /gene_synonym="ANKRD15; CPSQ2; KANK"
                     /coded_by="XM_054362496.1:554..4084"
                     /db_xref="GeneID:23189"
                     /db_xref="HGNC:HGNC:19309"
                     /db_xref="MIM:607704"
ORIGIN      
        1 metrrrleqe ratmqmtpge frrprlasfg gmgttsslps fvgsgnhnpa khqlqngyqg
       61 ngdygsyapa apttssmgss irhsplssgi stpvtnvspm hlqhireqma ialkrlkele
      121 eqvrtipvlq vkisvlqeek rqlvsqlknq raasqinvcg vrkrsysagn asqleqlsra
      181 rrsggelyid yeeeemetve qstqrikefr qltadmqale qkiqdsscea sselrengec
      241 rsvavgaeen mndivvyhrg srsckdaavg tlvqmrncgv svteamlgvm teadkeielq
      301 qqtieslkek iyrlevqlre tthdremtkl kqelqaagsr kkvdkatmaq plvfskvvea
      361 vvqtrdqmvg shmdlvdtcv gtsvetnsvg iscqpecknk vvgpelpmnw wivkervemh
      421 drcagrsvem cdksvsvevs vcetgsntee svndltllkt nlnlkevrsi gcgdcsvdvt
      481 vcspkecasr gvnteavsqv eaavmavprt adqdtstdle qvhqftntet atliesctnt
      541 clstldkqts tqtvetrtva vgegrvkdin sstktrsigv gtllsghsgf drpsavktke
      601 sgvgqinind nylvglkmrt iacgppqltv gltasrrsvg vgddpvgesl enpqpqaplg
      661 mmtgldhyie riqkllaeqq tllaenysel aeafgephsq mgslnsqlis tlssinsvmk
      721 sasteelrnp dfqktslgki tgnylgytck cgglqsgspl ssqtsqpeqe vgtsegkpis
      781 sldafptqea ctnnestlks imkkkdgnkd sngakknlqf vginggyett ssddsssdes
      841 sssesddecd vieypleeee eeededtrgm aeghhavnie glksarvede mqvqecepek
      901 veireryels ekmlsacnll kntindpkal tskdmrfcln tlqhewfrvs sqksaipamv
      961 gdyiaafeai spdvlryvin ladgngntal hysvshsnfe ivkllldadv cnvdhqnkag
     1021 ytpimlaala aveaekdmri veelfgcgdv nakasqagqt almlavshgr idmvkgllac
     1081 gadvniqdde gstalmcase hghveivkll laqpgcnghl edndgstals ialeaghkdi
     1141 avllyahvnf akaqspgtpr lgrktspgpt hrgsfd
//
LOCUS       XP_054220093            2037 aa            linear   PRI 20-MAR-2023
DEFINITION  multiple PDZ domain protein isoform X4 [Homo sapiens].
ACCESSION   XP_054220093
VERSION     XP_054220093.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364118.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2037
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2037
                     /product="multiple PDZ domain protein isoform X4"
                     /calculated_mol_wt=217784
     CDS             1..2037
                     /gene="MPDZ"
                     /gene_synonym="HYC2; MUPP1"
                     /coded_by="XM_054364118.1:942..7055"
                     /db_xref="GeneID:8777"
                     /db_xref="HGNC:HGNC:7208"
                     /db_xref="MIM:603785"
ORIGIN      
        1 mleaidknra lhaaerlqtk lrergdvane dklsllksvl qsplfsqils lqtsvqqlkd
       61 qvniatsats nieyahvphl spaviptlqn esfllspnng nlealtgpgi phingkpacd
      121 efdqliknma qgrhvevfel lkppsgglgf svvglrsenr gelgifvqei qegsvahrdg
      181 rlketdqila ingqaldqti thqqaisilq kakdtvqlvi argslpqlvs pivsrspsaa
      241 stisahsnpv hwqhmetiel vndgsglgfg iiggkatgvi vktilpggva dqhgrlcsgd
      301 hilkigdtdl agmsseqvaq vlrqcgnrvk lmiargaiee rtaptalgit lsssptstpe
      361 lrvdastqkg eesetfdvel tknvqglgit iagyigdkkl epsgifvksi tkssavehdg
      421 riqigdqiia vdgtnlqgft nqqavevlrh tgqtvlltlm rrgmkqeael msredvtkda
      481 dlspvnasii kenyekdedf lsstrntnil pteeegypll saeieeieda qkqeaalltk
      541 wqrimginye ivvahvskfs ensglgisle atvghhfirs vlpegpvghs gklfsgdell
      601 evngitllge nhqdvvnilk elpievtmvc crrtvppttq seldsldlcd ieltekphvd
      661 lgefigsset edpvlamtda gqsteevqap lamweagiqh ielekgskgl gfsildyqdp
      721 idpastviii rslvpggiae kdgrllpgdr lmfvndvnle nssleeavea lkgapsgtvr
      781 igvakplpls peegyvsake dsflypphsc eeagladkpl fradlalvgt ndadlvdest
      841 fespyspend siystqasil slhgsscgdg lnygsslpss ppkdviensc dpvldlhmsl
      901 eelytqnllq rqdentpsvd ismgpasgft indytpanai eqqyecenti vwteshlpse
      961 vissaelpsv lpdsagkgse ylleqsslac naecvmlqnv skesfertin iakgnsslgm
     1021 tvsankdglg mivrsiihgg aisrdgriai gdcilsinee stisvtnaqa ramlrrhsli
     1081 gpdikityvp aehleefkis lgqqsgrvma ldifssytgr dipelperee gegeeselqn
     1141 taysnwnqpr rvelwrepsk slgisivggr gmgsrlsnge vmrgifikhv ledspagkng
     1201 tlkpgdrive vdgmdlrdas heqaveairk agnpvvfmvq siinrpraps qsesepekap
     1261 lcsvppppps afaemgsdht qssaskisqd vdkedefgys wknirerygt ltgelhmiel
     1321 ekghsglgls lagnkdrsrm svfivgidpn gaagkdgrlq iadelleing qilygrshqn
     1381 assiikcaps kvkiifirnk davnqmavcp gnaveplpsn senlqnkete ptvttsdaav
     1441 dlssfknvqh lelpkdqggl giaiseedtl sgviikslte hgvaatdgrl kvgdqilavd
     1501 deivvgypie kfisllktak mtvkltihae npdsqavpsa agaasgekkn ssqslmvpqs
     1561 gspepesirn tsrsstpaif asdpatcpii pgcettieis kgrtglglsi vggsdtllga
     1621 iiihevyeeg aackdgrlwa gdqilevngi dlrkathdea invlrqtpqr vrltlyrdea
     1681 pykeeevcdt ltielqkkpg kglglsivgk rndtgvfvsd ivkggiadad grlmqgdqil
     1741 mvngedvrna tqeavaallk cslgtvtlev grikagpfhs errpsqssqv segslssftf
     1801 plsgsstses lessskknal aseiqglrtv emkkgptdsl gisiaggvgs plgdvpifia
     1861 mmhptgvaaq tqklrvgdri vticgtsteg mthtqavnll knasgsiemq vvaggdvsvv
     1921 tghqqepass slsftgltss sifqddlgpp qcksitlerg pdglgfsivg gygsphgdlp
     1981 iyvktvfakg aasedgrlkr gdqiiavngq slegvtheea vailkrtkgt vtlmvls
//
LOCUS       XP_054183406            1593 aa            linear   PRI 20-MAR-2023
DEFINITION  THO complex subunit 2 isoform X10 [Homo sapiens].
ACCESSION   XP_054183406
VERSION     XP_054183406.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327431.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1593
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1593
                     /product="THO complex subunit 2 isoform X10"
                     /calculated_mol_wt=182644
     CDS             1..1593
                     /gene="THOC2"
                     /gene_synonym="CXorf3; dJ506G2.1; hTREX120; MRX12; MRX35;
                     THO2; XLID12"
                     /coded_by="XM_054327431.1:31..4812"
                     /db_xref="GeneID:57187"
                     /db_xref="HGNC:HGNC:19073"
                     /db_xref="MIM:300395"
ORIGIN      
        1 maaaavvvpa ewiknweksg rgeflhlcri lsenkshdss tyrdfqqaly elsyhvikgn
       61 lkheqasnvl sdisefredm psiladvfci ldietnclee kskrdyftql vlaclylvsd
      121 tvlkerldpe tleslglikq sqqfnqksvk iktklfykqq kfnllreene gyakliaelg
      181 qdlsgsitsd lileniksli gcfnldpnrv ldvilevfec rpehddffis llesymsmce
      241 pqtlchilgf kfkfyqepng etpsslyrva avllqfnlid lddlyvhllp adncimdehk
      301 reiaeakqiv rkltmvvlss ekmderekek ekeeekvekp pdnqklglle allkigdwqh
      361 aqnimdqmpp yyaashklia laicklihit ieplyrrvgv pkgakgspvn alqnkrapkq
      421 aesfedlrrd vfnmfcylgp hlshdpilfa kvvrigksfm kefqsdgskq edkektevil
      481 scllsitdqv llpslslmdc nacmseelwg mfktfpyqhr yrlygqwkne tynshpllvk
      541 vkaqtidrak yimkrltken vkpsgrqigk lshsnptilf dyilsqiqky dnlitpvvds
      601 lkyltslnyd vlayciieal anpekermkh ddttisswlq slasfcgavf rkypidlagl
      661 lqyvanqlka gksfdllilk evvqkmagie iteemtmeql eamtggeqlk aeggyfgqir
      721 ntkkssqrlk dalldhdlal plcllmaqqr ngvifqegge khlklvgkly dqchdtlvqf
      781 ggflasnlst edyikrvpsi dvlcnefhtp hdaafflsrp myahhissky delkksekgs
      841 kqqhkvhkyi tscemvmapv heavvslhvs kvwddispqf yatfwsltmy dlavphtsye
      901 revnklkvqm kaiddnqemp pnkkkkeker ctalqdklle eekkqmehvq rvlqrlklek
      961 dnwllakstk netitkflql cifprcifsa idavycarfv elvhqqktpn fstllcydrv
     1021 fsdiiytvas cteneasryg rflccmletv trwhsdraty ekecgnypgf ltilratgfd
     1081 ggnkadqldy enfrhvvhkw hykltkasvh cletgeythi rnilivltki lpwypkvlnl
     1141 gqalerrvhk icqeekekrp dlyalamgys gqlksrksym ipenefhhkd ppprnavasv
     1201 qngpgggpss ssigsasksd essteetdks rersqcgvka vnkassttpk gnssngnsgs
     1261 nsnkavkend kekgkekeke kkektpattp earvlgkdgk ekpkeerpnk dekaretker
     1321 tpksdkekek fkkeekakde kfkttvpnae skstqerere kepsrerdia kemkskenvk
     1381 ggektpvsgs lkspvprsdi pepereqkrr kidthpspsh sstvkdslie lkessaklyi
     1441 nhtppplsks keremdkkdl dksrersrer ekkdekdrke rkrdhsnndr evppdltkrr
     1501 keengtmgvs khksespces pypnekdkek nkskssgkek gsdsfksekm dkissggkke
     1561 srhdkekiek kekrdssggk eekkhhkssd khr
//
LOCUS       XP_054183437            1388 aa            linear   PRI 20-MAR-2023
DEFINITION  retrotransposon Gag-like protein 9 isoform X1 [Homo sapiens].
ACCESSION   XP_054183437
VERSION     XP_054183437.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327462.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1388
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1388
                     /product="retrotransposon Gag-like protein 9 isoform X1"
                     /calculated_mol_wt=144150
     CDS             1..1388
                     /gene="RTL9"
                     /gene_synonym="MAR9; MART9; RGAG1; SIRH10"
                     /coded_by="XM_054327462.1:267..4433"
                     /db_xref="GeneID:57529"
                     /db_xref="HGNC:HGNC:29245"
                     /db_xref="MIM:300965"
ORIGIN      
        1 msiplhslrf nntmreenve pqnkqmafcr pmtetradvq ilhshvqlpi vstsasdpgg
       61 tstqlmtspv fdtmsaplmg vpnsgalspp lmpasdsgal spllmpasds galspllmpa
      121 ldsgtlspll stseygvmsp gmmtipdfgt msatlmvapd saeisplamp apssgvvctp
      181 imstssseam stplmlapds gelspilmqd mnpgvmstqp vpapsseams plqitdedte
      241 amskvlmtal asgeissllm sgtdseaiss limsavasgg tspqptstqn sggiptplms
      301 dldsgimssl lmsspgsevm stpllsvpda gemstlpkpa pdaeamspal mtalpsgvmp
      361 tqtmpapgsg amspwstqnv dsemmsnppv ratasgvmsa ppvraldsga mstplmgapa
      421 sgnmstlqkt vpasgamtts lmtvpssgvm steqmsatas rvmsaqltma ktsgamptgs
      481 mkavakqykr atasgkmstp lrraptsgam stqpvtatas etmsmpqltv pasgsmsmlq
      541 mrapvseams mpqmrtmasg ltsaaqmkam tsgamstplm taqtsgstst llmrdtasgv
      601 mscpqmrsla sgalskplmt pkasgtmfte kmtttaseam ptllmrdtvs galsmpqmtd
      661 tasgglsasl mrdtasgams tsqmtatvsg gmsmplmraq dpgvmpaslm rakvsgkmls
      721 qpmstqdpgg msmspmksmt aggmqmnspt sdvmstptvr awtsetmstp lmrtsdpger
      781 pslltrasss gemslplmra pasgeiatpl rspaygamsa pqmtatasgm mssmpqvkap
      841 isgamsmplt rstasggmsm plmrapdsrv tstsqmmpta sgdmctlpvr apasggvssp
      901 lvrapasgtm stplrrpsac etvstelmra sasghmstaq ttamvsggms kplmrapasg
      961 tmpmplmsam asgemsmplm etmasgatst lqtsvansrs mslsqttytv sgrmatapir
     1021 asasgarsts fmrasvsgsm pmplpratas gcgmgmsmpq mtatdsrgms tplmrasgpg
     1081 tmstpqtafg vmstpeikat dsgeastshi nitasgskpt shmtattpet akpppkevps
     1141 fgmltpalcy lleeqeaarg scsveeemei deekqmkgfl ddsermaflv slhlgaaerw
     1201 filqmevgep lshenksflr rsqgiydsls eidilsavlc hpkqgqksvr qyatdfllla
     1261 rhlswsdail rtrfleglse avttkmgrif lkvagslkel idrslytecq laeekdspgn
     1321 ssqvlptack rnneeamgne lssqqqteeh qhvskrcyyl kehgdpqegl hdhlgqstgh
     1381 hqkahtnk
//
LOCUS       XP_054183714             805 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger X-chromosomal protein isoform X3 [Homo sapiens].
ACCESSION   XP_054183714
VERSION     XP_054183714.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327739.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..805
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..805
                     /product="zinc finger X-chromosomal protein isoform X3"
                     /calculated_mol_wt=90391
     CDS             1..805
                     /gene="ZFX"
                     /gene_synonym="ZNF926"
                     /coded_by="XM_054327739.1:1438..3855"
                     /db_xref="GeneID:7543"
                     /db_xref="HGNC:HGNC:12869"
                     /db_xref="MIM:314980"
ORIGIN      
        1 mdedglelqq epnsffdatg adgthmdgdq ivvevqetvf vsdvvdsdit vhnfvpddpd
       61 svviqdvied vviedvqcpd imeeadvset viipeqvlds dvteevslah ctvpddvlas
      121 ditsasmsmp ehvltgdsih vsdvghvghv ghvehvvhds vveaeivtdp lttdvvseev
      181 lvadcaseav idangipvdq qdddkgnced ylmislddag kiehdgssgm tmdteseidp
      241 ckvdgtcpev ikvyifkadp geddlggtvd ivesependh gvelldqnss irvprekmvy
      301 mtvndsqped edlnvaeiad evymevivge edaaaaaaaa avheqqmddn eiktfmpiaw
      361 aaaygnnsdg ienrngtasa llhidesagl grlakqkpkk rrrpdsrqyq taiiigpdgh
      421 pltvypcmic gkkfksrgfl krhmknhpeh lakkkyrctd cdyttnkkis lhnhleshkl
      481 tskaekaiec decgkhfsha galfthkmvh kekgankmhk ckfceyetae qgllnrhlla
      541 vhsknfphic vecgkgfrhp selkkhmrih tgekpyqcqy ceyrsadssn lkthvktkhs
      601 kempfkcdic lltfsdtkev qqhalihqes kthqclhcdh kssnssdlkr hiisvhtkdy
      661 phkcdmcdkg fhrpselkkh vaahkgkkmh qcrhcdfkia dpfvlsrhil svhtkdlpfr
      721 ckrcrkgfrq qselkkhmkt hsgrkvyqce yceysttdas gfkrhvisih tkdyphrcey
      781 ckkgfrrpse knqhimrhhk evglp
//
LOCUS       XP_054184185             632 aa            linear   PRI 20-MAR-2023
DEFINITION  armadillo repeat-containing X-linked protein 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054184185
VERSION     XP_054184185.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328210.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..632
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..632
                     /product="armadillo repeat-containing X-linked protein 2
                     isoform X1"
                     /calculated_mol_wt=65553
     CDS             1..632
                     /gene="ARMCX2"
                     /gene_synonym="ALEX2; GASP9"
                     /coded_by="XM_054328210.1:527..2425"
                     /db_xref="GeneID:9823"
                     /db_xref="HGNC:HGNC:16869"
                     /db_xref="MIM:300363"
ORIGIN      
        1 msrvrdagcv aagivigaga wycvykytrg rdqtkkrmak pknravagtg araraglrag
       61 ftidlgsgfs pptpvraeae draqdeasal dtvgaeavap aassaeaqsg agsqaqeadg
      121 agvgpkaesv vgaamasaia pppgvtealg aaeapamaga pkvaeaprea etsraavppg
      181 tvvpteaaap tevtegpgva aptkvaeapg vaspteaaea pvpatptgaa aptgaaespg
      241 tsgsprtavv pgtsaakkat pgahtgaipk atsatgavpk gggkgvtrsr nggkgkgkks
      301 kvevdelgmg frpgdgaaaa aaasanggqa flaevpdsee gesgwtdtes dsdsepetqr
      361 rgrgrrpvam qkrpfpyeid eilgvrdlrk vlallqksdd pfiqqvallt lsnnanyscn
      421 qetirklggl piianminkt dphikekalm amnnlsenye nqgrlqvymn kvmddimasn
      481 lnsavqvvgl kfltnmtitn dyqhllvnsi anffrllsqg ggkikveilk ilsnfaenpd
      541 mlkkllstqv pasfsslyns yveseilina ltlfeiiydn lraevfnyre fnkgslfylc
      601 ttsgvcvkki ralanhhdll vkvkviklvn kf
//
LOCUS       XP_047303228             304 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-specific Y-encoded protein 3-like isoform X2 [Homo sapiens].
ACCESSION   XP_047303228
VERSION     XP_047303228.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047447272.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060948) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..304
                     /organism="Homo sapiens"
                     /isolate="NA24385"
                     /bio_material="CORIELL:NA24385"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /sex="male"
                     /tissue_type="B-Lymphocyte"
     Protein         1..304
                     /product="testis-specific Y-encoded protein 3-like isoform
                     X2"
                     /calculated_mol_wt=34608
     Region          126..288
                     /region_name="NAP"
                     /note="Nucleosome assembly protein (NAP); cl08298"
                     /db_xref="CDD:447601"
     CDS             1..304
                     /gene="LOC124909306"
                     /coded_by="XM_047447272.1:15..929"
                     /db_xref="GeneID:124909306"
ORIGIN      
        1 mrpegsltyr vperlrqgfc gvgraaqalv casakegtaf rmeavqegaa gveseqaalg
       61 eeavlllddi maevevvaee eglverreea qraqqavpgp gpmtpesale ellavqvele
      121 pvnaqarkaf srqrekmerr rkphldrrga viqsvpgfwa nvianhpqms alitdededm
      181 lsymvsleve eekhpvhlck imlffrsnpy fqnkvitkey lvniteyras hstpiewypd
      241 yeveayrrrh hnsslnffnw fsdhnfagsn kiaeilckdl wrnplqyykr mkppeegtet
      301 seip
//
LOCUS       NP_001159920             139 aa            linear   PRI 22-MAR-2023
DEFINITION  histone deacetylase 8 isoform 6 [Homo sapiens].
ACCESSION   NP_001159920
VERSION     NP_001159920.1
DBSOURCE    REFSEQ: accession NM_001166448.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 139)
  AUTHORS   Zhou X, Chen H, Shi Y, Li J, Ma X, Du L, Hu Y, Tao M, Zhong Q, Yan
            D, Zhuang S and Liu N.
  TITLE     Histone deacetylase 8 inhibition prevents the progression of
            peritoneal fibrosis by counteracting the epithelial-mesenchymal
            transition and blockade of M2 macrophage polarization
  JOURNAL   Front Immunol 14, 1137332 (2023)
   PUBMED   36911746
  REMARK    GeneRIF: Histone deacetylase 8 inhibition prevents the progression
            of peritoneal fibrosis by counteracting the epithelial-mesenchymal
            transition and blockade of M2 macrophage polarization.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 139)
  AUTHORS   Noce B, Di Bello E, Zwergel C, Fioravanti R, Valente S, Rotili D,
            Masotti A, Salik Zeya Ansari M, Trisciuoglio D, Chakrabarti A,
            Romier C, Robaa D, Sippl W, Jung M, Haberli C, Keiser J and Mai A.
  TITLE     Chemically Diverse S. mansoni HDAC8 Inhibitors Reduce Viability in
            Worm Larval and Adult Stages
  JOURNAL   ChemMedChem 18 (3), e202200510 (2023)
   PUBMED   36250286
  REMARK    GeneRIF: Chemically Diverse S. mansoni HDAC8 Inhibitors Reduce
            Viability in Worm Larval and Adult Stages.
REFERENCE   3  (residues 1 to 139)
  AUTHORS   Vannini A, Volpari C, Filocamo G, Casavola EC, Brunetti M, Renzoni
            D, Chakravarty P, Paolini C, De Francesco R, Gallinari P,
            Steinkuhler C and Di Marco S.
  TITLE     Crystal structure of a eukaryotic zinc-dependent histone
            deacetylase, human HDAC8, complexed with a hydroxamic acid
            inhibitor
  JOURNAL   Proc Natl Acad Sci U S A 101 (42), 15064-15069 (2004)
   PUBMED   15477595
  REMARK    GeneRIF: crystal structure
REFERENCE   4  (residues 1 to 139)
  AUTHORS   Buggy JJ, Sideris ML, Mak P, Lorimer DD, McIntosh B and Clark JM.
  TITLE     Cloning and characterization of a novel human histone deacetylase,
            HDAC8
  JOURNAL   Biochem J 350 Pt 1 (Pt 1), 199-205 (2000)
   PUBMED   10926844
REFERENCE   5  (residues 1 to 139)
  AUTHORS   Van den Wyngaert I, de Vries W, Kremer A, Neefs J, Verhasselt P,
            Luyten WH and Kass SU.
  TITLE     Cloning and characterization of human histone deacetylase 8
  JOURNAL   FEBS Lett 478 (1-2), 77-83 (2000)
   PUBMED   10922473
REFERENCE   6  (residues 1 to 139)
  AUTHORS   Hu E, Chen Z, Fredrickson T, Zhu Y, Kirkpatrick R, Zhang GF,
            Johanson K, Sung CM, Liu R and Winkler J.
  TITLE     Cloning and characterization of a novel human class I histone
            deacetylase that functions as a transcription repressor
  JOURNAL   J Biol Chem 275 (20), 15254-15264 (2000)
   PUBMED   10748112
REFERENCE   7  (residues 1 to 139)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
REFERENCE   8  (residues 1 to 139)
  AUTHORS   Deardorff,M.A., Noon,S.E. and Krantz,I.D.
  TITLE     Cornelia de Lange Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301283
REFERENCE   9  (residues 1 to 139)
  AUTHORS   Mulley JC, Kerr B, Stevenson R and Lubs H.
  TITLE     Nomenclature guidelines for X-linked mental retardation
  JOURNAL   Am J Med Genet 43 (1-2), 383-391 (1992)
   PUBMED   1605216
  REMARK    Review article
REFERENCE   10 (residues 1 to 139)
  AUTHORS   Wilson M, Mulley J, Gedeon A, Robinson H and Turner G.
  TITLE     New X-linked syndrome of mental retardation, gynecomastia, and
            obesity is linked to DXS255
  JOURNAL   Am J Med Genet 40 (4), 406-413 (1991)
   PUBMED   1746601
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP229332.1, BQ632790.1 and
            AK074326.1.
            
            Summary: Histones play a critical role in transcriptional
            regulation, cell cycle progression, and developmental events.
            Histone acetylation/deacetylation alters chromosome structure and
            affects transcription factor access to DNA. The protein encoded by
            this gene belongs to class I of the histone deacetylase family. It
            catalyzes the deacetylation of lysine residues in the histone
            N-terminal tails and represses transcription in large multiprotein
            complexes with transcriptional co-repressors. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (6) lacks multiple alternate
            coding exons and uses an alternate 3' terminal exon, compared to
            variant 1. The encoded isoform (3) maintains the reading frame, but
            is shorter and has a distinct C-terminus, compared to isoform 1.
            
            Sequence Note: A downstream translational start codon is selected
            for this RefSeq based on a strong Kozak signal and transcript
            support. An upstream in-frame start codon is also present but has a
            weaker Kozak signal and sparse transcript support. Use of the
            upstream start codon would result in a protein that is 38 aa longer
            at the N-terminus. Leaky scanning by ribosomes may allow
            translation initiation at the downstream start codon, which is
            supported by 5'RACE experiments described in PubMed: 10922473 and
            encodes a protein with an N-terminus similar to other family
            members.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CK902212.1, BQ632790.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..139
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     Protein         1..139
                     /product="histone deacetylase 8 isoform 6"
                     /EC_number="3.5.1.98"
                     /note="histone deacetylase-like 1; protein deacetylase
                     HDAC8; protein decrotonylase HDAC8"
                     /calculated_mol_wt=15554
     Region          16..>129
                     /region_name="Arginase_HDAC"
                     /note="Arginase-like and histone-like hydrolases; cl17011"
                     /db_xref="CDD:450134"
     Site            39
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15242608; propagated from
                     UniProtKB/Swiss-Prot (Q9BY41.2)"
     CDS             1..139
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /coded_by="NM_001166448.2:83..502"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS55448.1"
                     /db_xref="GeneID:55869"
                     /db_xref="HGNC:HGNC:13315"
                     /db_xref="MIM:300269"
ORIGIN      
        1 meepeepads gqslvpvyiy speyvsmcds lakipkrasm vhslieayal hkqmrdeasg
       61 fcylndavlg ilrlrrkfer ilyvdldlhh gdgtgdvsdv glgkgryysv nvpiqdgiqd
      121 ekyyqicery eppapnpgl
//
LOCUS       NP_001373530             500 aa            linear   PRI 23-MAR-2023
DEFINITION  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
            [Homo sapiens].
ACCESSION   NP_001373530
VERSION     NP_001373530.1
DBSOURCE    REFSEQ: accession NM_001386601.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 500)
  AUTHORS   Zheng XX, You YX, Zhao LL, Du Y, Xu SQ and Tang DQ.
  TITLE     Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma
            concentration of valproic acid in Chinese epilepsy patients
  JOURNAL   Pharmacogenomics 24 (3), 153-162 (2023)
   PUBMED   36718958
  REMARK    GeneRIF: Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on
            plasma concentration of valproic acid in Chinese epilepsy patients.
REFERENCE   2  (residues 1 to 500)
  AUTHORS   Zheng Q, Bi R, Xu M, Zhang DF, Tan LW, Lu YP and Yao YG.
  TITLE     Exploring the Genetic Association of the ABAT Gene with Alzheimer's
            Disease
  JOURNAL   Mol Neurobiol 58 (5), 1894-1903 (2021)
   PUBMED   33404980
  REMARK    GeneRIF: Exploring the Genetic Association of the ABAT Gene with
            Alzheimer's Disease.
            Erratum:[Mol Neurobiol. 2021 Jan 22;:. PMID: 33483904]
REFERENCE   3  (residues 1 to 500)
  AUTHORS   Yokoshima Y, Sumitani M, Nishizawa D, Nagashima M, Ikeda K, Kato R,
            Hozumi J, Abe H, Azuma K, Tsuchida R and Yamada Y.
  CONSRTM   Japanese TR-Cancer Pain Research Group
  TITLE     Gamma-aminobutyric acid transaminase genetic polymorphism is a
            candidate locus for responsiveness to opioid analgesics in patients
            with cancer pain: An exploratory study
  JOURNAL   Neuropsychopharmacol Rep 38 (4), 175-181 (2018)
   PUBMED   30277654
  REMARK    GeneRIF: ABAT SNP rs1641025 is a potential candidate locus for
            responsiveness to opioid analgesics in patients with cancer pain.
REFERENCE   4  (residues 1 to 500)
  AUTHORS   Jansen MP, Sas L, Sieuwerts AM, Van Cauwenberghe C, Ramirez-Ardila
            D, Look M, Ruigrok-Ritstier K, Finetti P, Bertucci F, Timmermans
            MM, van Deurzen CH, Martens JW, Simon I, Roepman P, Linn SC, van
            Dam P, Kok M, Lardon F, Vermeulen PB, Foekens JA, Dirix L, Berns EM
            and Van Laere S.
  TITLE     Decreased expression of ABAT and STC2 hallmarks ER-positive
            inflammatory breast cancer and endocrine therapy resistance in
            advanced disease
  JOURNAL   Mol Oncol 9 (6), 1218-1233 (2015)
   PUBMED   25771305
  REMARK    GeneRIF: This study utilized ER+ IBC to identify a metagene
            including ABAT and STC2 as predictive biomarkers for endocrine
            therapy resistance.
REFERENCE   5  (residues 1 to 500)
  AUTHORS   Parviz M, Vogel K, Gibson KM and Pearl PL.
  TITLE     Disorders of GABA metabolism: SSADH and GABA-transaminase
            deficiencies
  JOURNAL   J Pediatr Epilepsy 3 (4), 217-227 (2014)
   PUBMED   25485164
  REMARK    GeneRIF: A-to-G transition at nucleotide 754 of the human ABAT gene
            identified in lymphoblast cDNA (c.754A>G) results in substitution
            of an invariant arginine at amino acid 220 by lysine (p.Arg220Lys).
            This point mutation results in destabilization of the binding of
            pyridoxal-5'-phosphate to GABA-transaminase (required for
            transamination of GABA to succinic semialdehyde) and thus results
            in GABA-transaminase deficiency.
REFERENCE   6  (residues 1 to 500)
  AUTHORS   Osei YD and Churchich JE.
  TITLE     Screening and sequence determination of a cDNA encoding the human
            brain 4-aminobutyrate aminotransferase
  JOURNAL   Gene 155 (2), 185-187 (1995)
   PUBMED   7721088
REFERENCE   7  (residues 1 to 500)
  AUTHORS   De Biase D, Barra D, Simmaco M, John RA and Bossa F.
  TITLE     Primary structure and tissue distribution of human 4-aminobutyrate
            aminotransferase
  JOURNAL   Eur J Biochem 227 (1-2), 476-480 (1995)
   PUBMED   7851425
REFERENCE   8  (residues 1 to 500)
  AUTHORS   Hearl,W.G. and Churchich,J.E.
  TITLE     Interactions between 4-aminobutyrate aminotransferase and succinic
            semialdehyde dehydrogenase, two mitochondrial enzymes
  JOURNAL   J Biol Chem 259 (18), 11459-11463 (1984)
   PUBMED   6470007
REFERENCE   9  (residues 1 to 500)
  AUTHORS   Jaeken,J., Casaer,P., de Cock,P., Corbeel,L., Eeckels,R.,
            Eggermont,E., Schechter,P.J. and Brucher,J.M.
  TITLE     Gamma-aminobutyric acid-transaminase deficiency: a newly recognized
            inborn error of neurotransmitter metabolism
  JOURNAL   Neuropediatrics 15 (3), 165-169 (1984)
   PUBMED   6148708
REFERENCE   10 (residues 1 to 500)
  AUTHORS   Jeremiah,S. and Povey,S.
  TITLE     The biochemical genetics of human gamma-aminobutyric acid
            transaminase
  JOURNAL   Ann Hum Genet 45 (3), 231-236 (1981)
   PUBMED   7305280
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007224.5 and AC012173.9.
            
            Summary: 4-aminobutyrate aminotransferase (ABAT) is responsible for
            catabolism of gamma-aminobutyric acid (GABA), an important, mostly
            inhibitory neurotransmitter in the central nervous system, into
            succinic semialdehyde. The active enzyme is a homodimer of 50-kD
            subunits complexed to pyridoxal-5-phosphate. The protein sequence
            is over 95% similar to the pig protein. GABA is estimated to be
            present in nearly one-third of human synapses. ABAT in liver and
            brain is controlled by 2 codominant alleles with a frequency in a
            Caucasian population of 0.56 and 0.44. The ABAT deficiency
            phenotype includes psychomotor retardation, hypotonia,
            hyperreflexia, lethargy, refractory seizures, and EEG
            abnormalities. Multiple alternatively spliced transcript variants
            encoding the same protein isoform have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.867896.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..500
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.2"
     Protein         1..500
                     /product="4-aminobutyrate aminotransferase, mitochondrial
                     isoform 1 precursor"
                     /EC_number="2.6.1.19"
                     /EC_number="2.6.1.22"
                     /note="GABA transferase; 4-aminobutyrate transaminase;
                     GABA aminotransferase; gamma-amino-N-butyrate
                     transaminase; 4-aminobutyrate aminotransferase,
                     mitochondrial; GABA transaminase;
                     (S)-3-amino-2-methylpropionate transaminase;
                     gamma-aminobutyrate aminotransferase"
                     /calculated_mol_wt=56308
     Region          34..496
                     /region_name="GABAtrns_euk"
                     /note="4-aminobutyrate aminotransferase, eukaryotic type;
                     TIGR00699"
                     /db_xref="CDD:129782"
     Site            order(163..165,217..218,220,293,326,328..329,357)
                     /site_type="active"
                     /note="inhibitor-cofactor binding pocket [active]"
                     /db_xref="CDD:99735"
     Site            order(164..165,217..218,293,326,329,357)
                     /site_type="other"
                     /note="pyridoxal 5'-phosphate binding site [chemical
                     binding]"
                     /db_xref="CDD:99735"
     Site            252
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P61922; propagated from
                     UniProtKB/Swiss-Prot (P80404.3)"
     Site            279
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P61922; propagated from
                     UniProtKB/Swiss-Prot (P80404.3)"
     Site            318
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P61922; propagated from
                     UniProtKB/Swiss-Prot (P80404.3)"
     Site            357
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:99735"
     Site            413
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P61922; propagated from
                     UniProtKB/Swiss-Prot (P80404.3)"
     Site            452
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P61922; propagated from
                     UniProtKB/Swiss-Prot (P80404.3)"
     Site            470
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P61922; propagated from
                     UniProtKB/Swiss-Prot (P80404.3)"
     CDS             1..500
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /coded_by="NM_001386601.1:365..1867"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 5"
                     /db_xref="CCDS:CCDS10534.1"
                     /db_xref="GeneID:18"
                     /db_xref="HGNC:HGNC:23"
                     /db_xref="MIM:137150"
ORIGIN      
        1 masmllaqrl acsfqhsyrl lvpgsrhisq aaakvdvefd ydgplmktev pgprsqelmk
       61 qlniiqnaea vhffcnyees rgnylvdvdg nrmldlysqi ssvpigyshp allkliqqpq
      121 nasmfvnrpa lgilppenfv eklrqsllsv apkgmsqlit macgscsnen alktifmwyr
      181 skergqrgfs qeeletcmin qapgcpdysi lsfmgafhgr tmgclatths kaihkidips
      241 fdwpiapfpr lkypleefvk enqqeearcl eevedlivky rkkkktvagi ivepiqsegg
      301 dnhasddffr klrdiarkhg caflvdevqt gggctgkfwa hehwglddpa dvmtfskkmm
      361 tggffhkeef rpnapyrifn twlgdpsknl llaeviniik redllnnaah agkalltgll
      421 dlqarypqfi srvrgrgtfc sfdtpddsir nkliliarnk gvvlggcgdk sirfrptlvf
      481 rdhhahlfln ifsdiladfk
//
LOCUS       NP_001393514             504 aa            linear   PRI 24-MAR-2023
DEFINITION  bone morphogenetic protein receptor type-1A isoform 5 [Homo
            sapiens].
ACCESSION   NP_001393514
VERSION     NP_001393514.1
DBSOURCE    REFSEQ: accession NM_001406585.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 504)
  AUTHORS   Rosner G, Petel-Galil Y, Laish I, Levi Z, Kariv R, Strul H, Gilad O
            and Gluck N.
  TITLE     Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant
            Carriers
  JOURNAL   Clin Transl Gastroenterol 13 (10), e00527 (2022)
   PUBMED   36049049
  REMARK    GeneRIF: Adenomatous Polyposis Phenotype in BMPR1A and SMAD4
            Variant Carriers.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 504)
  AUTHORS   Jiang B, Zhao X, Chen W, Diao W, Ding M, Qin H, Li B, Cao W, Chen
            W, Fu Y, He K, Gao J, Chen M, Lin T, Deng Y, Yan C and Guo H.
  TITLE     Lysosomal protein transmembrane 5 promotes lung-specific metastasis
            by regulating BMPR1A lysosomal degradation
  JOURNAL   Nat Commun 13 (1), 4141 (2022)
   PUBMED   35842443
  REMARK    GeneRIF: Lysosomal protein transmembrane 5 promotes lung-specific
            metastasis by regulating BMPR1A lysosomal degradation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 504)
  AUTHORS   Qiao Q, Xu L, Li Q, Wang Y, Lu H, Zhao N, Pu Y, Wang L, Guo Y and
            Guo C.
  TITLE     Bone morphogenetic protein receptor 1alpha promotes osteolytic
            lesion of oral squamous cell carcinoma by SHH-dependent
            osteoclastogenesis
  JOURNAL   Cancer Sci 113 (5), 1639-1651 (2022)
   PUBMED   35279920
  REMARK    GeneRIF: Bone morphogenetic protein receptor 1alpha promotes
            osteolytic lesion of oral squamous cell carcinoma by SHH-dependent
            osteoclastogenesis.
REFERENCE   4  (residues 1 to 504)
  AUTHORS   Huang T, Wu Q, Huang H, Zhang C, Wang L, Wang L, Liu Y, Li W, Zhang
            J and Liu Y.
  TITLE     Expression of GALNT8 and O-glycosylation of BMP receptor 1A
            suppress breast cancer cell proliferation by upregulating ERalpha
            levels
  JOURNAL   Biochim Biophys Acta Gen Subj 1866 (1), 130046 (2022)
   PUBMED   34743989
  REMARK    GeneRIF: Expression of GALNT8 and O-glycosylation of BMP receptor
            1A suppress breast cancer cell proliferation by upregulating
            ERalpha levels.
REFERENCE   5  (residues 1 to 504)
  AUTHORS   Chauvin M, Garambois V, Choblet S, Colombo PE, Chentouf M, Gros L,
            De Brauwere DP, Duonor-Cerutti M, Dumas K, Robert B, Jarlier M,
            Martineau P, Navarro-Teulon I, Pepin D, Chardes T and Pelegrin A.
  TITLE     Anti-Mullerian hormone concentration regulates activin
            receptor-like kinase-2/3 expression levels with opposing effects on
            ovarian cancer cell survival
  JOURNAL   Int J Oncol 59 (1) (2021)
   PUBMED   34013359
  REMARK    GeneRIF: Anti-Mullerian hormone concentration regulates activin
            receptor-like kinase-2/3 expression levels with opposing effects on
            ovarian cancer cell survival.
REFERENCE   6  (residues 1 to 504)
  AUTHORS   Yamada N, Kato M, ten Dijke P, Yamashita H, Sampath TK, Heldin CH,
            Miyazono K and Funa K.
  TITLE     Bone morphogenetic protein type IB receptor is progressively
            expressed in malignant glioma tumours
  JOURNAL   Br J Cancer 73 (5), 624-629 (1996)
   PUBMED   8605097
REFERENCE   7  (residues 1 to 504)
  AUTHORS   Ishidou Y, Kitajima I, Obama H, Maruyama I, Murata F, Imamura T,
            Yamada N, ten Dijke P, Miyazono K and Sakou T.
  TITLE     Enhanced expression of type I receptors for bone morphogenetic
            proteins during bone formation
  JOURNAL   J Bone Miner Res 10 (11), 1651-1659 (1995)
   PUBMED   8592941
REFERENCE   8  (residues 1 to 504)
  AUTHORS   Liu F, Ventura F, Doody J and Massague J.
  TITLE     Human type II receptor for bone morphogenic proteins (BMPs):
            extension of the two-kinase receptor model to the BMPs
  JOURNAL   Mol Cell Biol 15 (7), 3479-3486 (1995)
   PUBMED   7791754
REFERENCE   9  (residues 1 to 504)
  AUTHORS   ten Dijke P, Ichijo H, Franzen P, Schulz P, Saras J, Toyoshima H,
            Heldin CH and Miyazono K.
  TITLE     Activin receptor-like kinases: a novel subclass of cell-surface
            receptors with predicted serine/threonine kinase activity
  JOURNAL   Oncogene 8 (10), 2879-2887 (1993)
   PUBMED   8397373
REFERENCE   10 (residues 1 to 504)
  AUTHORS   Larsen Haidle,J., MacFarland,S.P. and Howe,J.R.
  TITLE     Juvenile Polyposis Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301642
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067750.5 and AC025268.8.
            
            Summary: The bone morphogenetic protein (BMP) receptors are a
            family of transmembrane serine/threonine kinases that include the
            type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2.
            These receptors are also closely related to the activin receptors,
            ACVR1 and ACVR2. The ligands of these receptors are members of the
            TGF-beta superfamily. TGF-betas and activins transduce their
            signals through the formation of heteromeric complexes with 2
            different types of serine (threonine) kinase receptors: type I
            receptors of about 50-55 kD and type II receptors of about 70-80
            kD. Type II receptors bind ligands in the absence of type I
            receptors, but they require their respective type I receptors for
            signaling, whereas type I receptors require their respective type
            II receptors for ligand binding. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.2033797.1,
                                           SRR1660803.176240.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..504
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.2"
     Protein         1..504
                     /product="bone morphogenetic protein receptor type-1A
                     isoform 5"
                     /EC_number="2.7.11.30"
                     /note="serine/threonine-protein kinase receptor R5;
                     activin A receptor, type II-like kinase 3; BMP type-1A
                     receptor; activin receptor-like kinase 3; bone
                     morphogenetic protein receptor, type IA"
                     /calculated_mol_wt=56799
     Region          31..104
                     /region_name="Activin_recp"
                     /note="Activin types I and II receptor domain; pfam01064"
                     /db_xref="CDD:426025"
     Region          177..204
                     /region_name="TGF_beta_GS"
                     /note="Transforming growth factor beta type I GS-motif;
                     pfam08515"
                     /db_xref="CDD:430045"
     Region          210..496
                     /region_name="STKc_BMPR1a"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Bone Morphogenetic Protein Type IA Receptor; cd14220"
                     /db_xref="CDD:271122"
     Site            order(212..216,220,231,233,261,281..284,288,290,334,336,
                     338..339,341,352,355,375..378)
                     /site_type="active"
                     /db_xref="CDD:271122"
     Site            order(212..218,220,231,233,281..282,284,288,338..339,341,
                     352)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271122"
     Site            order(216,288,290,334,336,338,355,375..378)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271122"
     Site            order(243..244,247..248,251,266,268)
                     /site_type="other"
                     /note="FKBP12 binding site [polypeptide binding]"
                     /db_xref="CDD:271122"
     Site            351..378
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271122"
     CDS             1..504
                     /gene="BMPR1A"
                     /gene_synonym="10q23del; ACVRLK3; ALK-3; ALK3; BMPR-1A;
                     CD292; SKR5"
                     /coded_by="NM_001406585.1:319..1833"
                     /note="isoform 5 is encoded by transcript variant 28"
                     /db_xref="GeneID:657"
                     /db_xref="HGNC:HGNC:1076"
                     /db_xref="MIM:601299"
ORIGIN      
        1 mlhgtgmksd sdqkksengv tlapedtlpf lkcycsghcp ddainntcit nghcfaiiee
       61 ddqgettlas gcmkyegsdf qckdspkaql rrtieccrtn lcnqylqptl ppvvigpffd
      121 gsirwlvlli smavciiami ifsscfcykh ycksissrrr ynrdleqdea fipvgeslkd
      181 lidqsqssgs gsglpllvqr tiakqiqmvr qvgkgrygev wmgkwrgekv avkvffttee
      241 aswfreteiy qtvlmrheni lgfiaadikg tgswtqlyli tdyhengsly dflkcatldt
      301 rallklaysa acglchlhte iygtqgkpai ahrdlkskni likkngscci adlglavkfn
      361 sdtnevdvpl ntrvgtkrym apevldesln knhfqpyima diysfgliiw emarrcitgg
      421 iveeyqlpyy nmvpsdpsye dmrevvcvkr lrpivsnrwn sdeclravlk lmsecwahnp
      481 asrltalrik ktlakmvesq dvki
//
LOCUS       NP_001394586            1836 aa            linear   PRI 25-MAR-2023
DEFINITION  breast cancer type 1 susceptibility protein isoform 24 [Homo
            sapiens].
ACCESSION   NP_001394586
VERSION     NP_001394586.1
DBSOURCE    REFSEQ: accession NM_001407657.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1836)
  AUTHORS   Orban TI and Olah E.
  TITLE     Emerging roles of BRCA1 alternative splicing
  JOURNAL   Mol Pathol 56 (4), 191-197 (2003)
   PUBMED   12890739
  REMARK    Review article
REFERENCE   2  (residues 1 to 1836)
  AUTHORS   Orban TI and Olah E.
  TITLE     Expression profiles of BRCA1 splice variants in asynchronous and in
            G1/S synchronized tumor cell lines
  JOURNAL   Biochem Biophys Res Commun 280 (1), 32-38 (2001)
   PUBMED   11162473
REFERENCE   3  (residues 1 to 1836)
  AUTHORS   Paterson JW.
  TITLE     BRCA1: a review of structure and putative functions
  JOURNAL   Dis Markers 13 (4), 261-274 (1998)
   PUBMED   9553742
  REMARK    Review article
REFERENCE   4  (residues 1 to 1836)
  AUTHORS   Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S,
            Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E.
  TITLE     Mutations and alternative splicing of the BRCA1 gene in UK
            breast/ovarian cancer families
  JOURNAL   Genes Chromosomes Cancer 18 (2), 102-110 (1997)
   PUBMED   9115959
REFERENCE   5  (residues 1 to 1836)
  AUTHORS   Wilson CA, Payton MN, Elliott GS, Buaas FW, Cajulis EE, Grosshans
            D, Ramos L, Reese DM, Slamon DJ and Calzone FJ.
  TITLE     Differential subcellular localization, expression and biological
            toxicity of BRCA1 and the splice variant BRCA1-delta11b
  JOURNAL   Oncogene 14 (1), 1-16 (1997)
   PUBMED   9010228
REFERENCE   6  (residues 1 to 1836)
  AUTHORS   Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, Yao J, Farid
            LM, Couch FJ, Wilson RB and Weber BL.
  TITLE     Localization of BRCA1 and a splice variant identifies the nuclear
            localization signal
  JOURNAL   Mol Cell Biol 17 (1), 444-452 (1997)
   PUBMED   8972225
REFERENCE   7  (residues 1 to 1836)
  AUTHORS   Lu M, Conzen SD, Cole CN and Arrick BA.
  TITLE     Characterization of functional messenger RNA splice variants of
            BRCA1 expressed in nonmalignant and tumor-derived breast cells
  JOURNAL   Cancer Res 56 (20), 4578-4581 (1996)
   PUBMED   8840964
REFERENCE   8  (residues 1 to 1836)
  AUTHORS   Holt JT, Thompson ME, Szabo C, Robinson-Benion C, Arteaga CL, King
            MC and Jensen RA.
  TITLE     Growth retardation and tumour inhibition by BRCA1
  JOURNAL   Nat Genet 12 (3), 298-302 (1996)
   PUBMED   8589721
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
REFERENCE   9  (residues 1 to 1836)
  AUTHORS   Xu CF, Brown MA, Chambers JA, Griffiths B, Nicolai H and Solomon E.
  TITLE     Distinct transcription start sites generate two forms of BRCA1 mRNA
  JOURNAL   Hum Mol Genet 4 (12), 2259-2264 (1995)
   PUBMED   8634696
REFERENCE   10 (residues 1 to 1836)
  AUTHORS   Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K,
            Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al.
  TITLE     A strong candidate for the breast and ovarian cancer susceptibility
            gene BRCA1
  JOURNAL   Science 266 (5182), 66-71 (1994)
   PUBMED   7545954
REFERENCE   11 (residues 1 to 1836)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
REFERENCE   12 (residues 1 to 1836)
  AUTHORS   Petrucelli,N., Daly,M.B. and Pal,T.
  TITLE     BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135721.4.
            
            Summary: This gene encodes a 190 kD nuclear phosphoprotein that
            plays a role in maintaining genomic stability, and it also acts as
            a tumor suppressor. The BRCA1 gene contains 22 exons spanning about
            110 kb of DNA. The encoded protein combines with other tumor
            suppressors, DNA damage sensors, and signal transducers to form a
            large multi-subunit protein complex known as the BRCA1-associated
            genome surveillance complex (BASC). This gene product associates
            with RNA polymerase II, and through the C-terminal domain, also
            interacts with histone deacetylase complexes. This protein thus
            plays a role in transcription, DNA repair of double-stranded
            breaks, and recombination. Mutations in this gene are responsible
            for approximately 40% of inherited breast cancers and more than 80%
            of inherited breast and ovarian cancers. Alternative splicing plays
            a role in modulating the subcellular localization and physiological
            function of this gene. Many alternatively spliced transcript
            variants, some of which are disease-associated mutations, have been
            described for this gene, but the full-length natures of only some
            of these variants has been described. A related pseudogene, which
            is also located on chromosome 17, has been identified. [provided by
            RefSeq, May 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2061661.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1836
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..1836
                     /product="breast cancer type 1 susceptibility protein
                     isoform 24"
                     /EC_number="2.3.2.27"
                     /note="BRCA1/BRCA2-containing complex, subunit 1; RING
                     finger protein 53; breast cancer type 1 susceptibility
                     protein; breast and ovarian cancer susceptibility protein
                     1; protein phosphatase 1, regulatory subunit 53; Fanconi
                     anemia, complementation group S; early onset breast cancer
                     1; breast cancer 1, early onset"
                     /calculated_mol_wt=204530
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          7..73
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Site            88
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          204..244
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          280..312
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          319..481
                     /region_name="BRCT_assoc"
                     /note="Serine-rich domain associated with BRCT; pfam12820"
                     /db_xref="CDD:432806"
     Site            369
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            372
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            397
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            408
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          508..544
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            525
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          628..683
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            668
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            682
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            699
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48754; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            727
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            814
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48754; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            962
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CHEK2.
                     /evidence=ECO:0000269|PubMed:10724175,
                     ECO:0000269|PubMed:20364141; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            983
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1117
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1155..1190
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1163
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1165
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1185
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1191
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1192
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1254
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1296..1361
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1302
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1310
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1316
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1361
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM and ATR.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1368
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1371..1398
                     /region_name="Interaction with PALB2.
                     /evidence=ECO:0000269|PubMed:19369211"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1397
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM and ATR.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1430
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1497
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM.
                     /evidence=ECO:0000269|PubMed:21144835; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1515
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1538..1569
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          1623..1719
                     /region_name="BRCT_BRCA1_rpt1"
                     /note="first BRCT domain of breast cancer type 1
                     susceptibility protein (BRCA1) and similar proteins;
                     cd17735"
                     /db_xref="CDD:349367"
     Site            order(1627..1629,1631,1671..1675,1677,1713)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349367"
     Region          1731..1828
                     /region_name="BRCT_BRCA1_rpt2"
                     /note="second (C-terminal) BRCT domain of breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd17721"
                     /db_xref="CDD:349353"
     Site            order(1747..1748,1808..1809,1813,1825..1826)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349353"
     CDS             1..1836
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /coded_by="NM_001407657.1:108..5618"
                     /note="isoform 24 is encoded by transcript variant 66"
                     /db_xref="GeneID:672"
                     /db_xref="HGNC:HGNC:1100"
                     /db_xref="MIM:113705"
ORIGIN      
        1 mdlsalrvee vqnvinamqk ilecpiclel ikepvstkcd hifckslqes trfsqlveel
       61 lkiicafqld tgleyansyn fakkennspe hlkdevsiiq smgyrnrakr llqsepenps
      121 lqetslsvql snlgtvrtlr tkqriqpqkt svyielgsds sedtvnkaty csvgdqellq
      181 itpqgtrdei sldsakkaac efsetdvtnt ehhqpsnndl nttekraaer hpekyqgssv
      241 snlhvepcgt nthasslqhe nssllltkdr mnvekaefcn kskqpglars qhnrwagske
      301 tcndrrtpst ekkvdlnadp lcerkewnkq klpcsenprd tedvpwitln ssiqkvnewf
      361 srsdellgsd dshdgesesn akvadvldvl nevdeysgss ekidllasdp healickser
      421 vhsksvesni edkifgktyr kkaslpnlsh vtenliigaf vtepqiiqer pltnklkrkr
      481 rptsglhped fikkadlavq ktpeminqgt nqteqngqvm nitnsghenk tkgdsiqnek
      541 npnpieslek esafktkaep isssisnmel elnihnskap kknrlrrkss trhihalelv
      601 vsrnlsppnc telqidscss seeikkkkyn qmpvrhsrnl qlmegkepat gakksnkpne
      661 qtskrhdsdt fpelkltnap gsftkcsnts elkefvnpsl preekeekle tvkvsnnaed
      721 pkdlmlsger vlqtersves ssislvpgtd ygtqesisll evstlgkakt epnkcvsqca
      781 afenpkglih gcskdnrndt egfkyplghe vnhsretsie meeseldaqy lqntfkvskr
      841 qsfapfsnpg naeeecatfs ahsgslkkqs pkvtfeceqk eenqgknesn ikpvqtvnit
      901 agfpvvgqkd kpvdnakcsi kggsrfclss qfrgnetgli tpnkhgllqn pyripplfpi
      961 ksfvktkckk nlleenfeeh smsperemgn enipstvsti srnnirenvf keasssnine
     1021 vgsstnevgs sineigssde niqaelgrnr gpklnamlrl gvlqpevykq slpgsnckhp
     1081 eikkqeyeev vqtvntdfsp ylisdnleqp mgsshasqvc setpddlldd geikedtsfa
     1141 endikessav fsksvqkgel srspspftht hlaqgyrrga kklesseenl ssedeelpcf
     1201 qhllfgkvnn ipsqstrhst vateclsknt eenllslkns lndcsnqvil akasqehhls
     1261 eetkcsaslf ssqcseledl tantntqdpf ligsskqmrh qsesqgvgls dkelvsddee
     1321 rgtgleennq eeqsmdsnlg eaasgceset svsedcsgls sqsdilttqq rdtmqhnlik
     1381 lqqemaelea vleqhgsqps nsypsiisds saledlrnpe qstsekvlts qksseypisq
     1441 npeglsadkf evsadsstsk nkepgverss pskcpslddr wymhscsgsl qnrnypsqee
     1501 likvvdveeq qleesgphdl tetsylprqd legtpylesg islfsddpes dpsedrapes
     1561 arvgnipsst salkvpqlkv aesaqspaaa httdtagyna meesvsrekp eltastervn
     1621 krmsmvvsgl tpeefmlvyk farkhhitlt nliteetthv vmktdaefvc ertlkyflgi
     1681 aggkwvvsyf wvtqsikerk mlnehdfevr gdvvngrnhq gpkraresqd rkifrgleic
     1741 cygpftnmpt dqlewmvqlc gasvvkelss ftlgtgvhpi vvvqpdawte dngfhaigqm
     1801 ceapvvtrew vldsvalyqc qeldtylipq iphshy
//
LOCUS       NP_001271231            1086 aa            linear   PRI 26-MAR-2023
DEFINITION  anillin isoform 3 [Homo sapiens].
ACCESSION   NP_001271231 XP_005249835
VERSION     NP_001271231.1
DBSOURCE    REFSEQ: accession NM_001284302.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1086)
  AUTHORS   Chen S, Gao Y, Chen F and Wang TB.
  TITLE     ANLN Serves as an Oncogene in Bladder Urothelial Carcinoma via
            Activating JNK Signaling Pathway
  JOURNAL   Urol Int 107 (3), 310-320 (2023)
   PUBMED   35504258
  REMARK    GeneRIF: ANLN Serves as an Oncogene in Bladder Urothelial Carcinoma
            via Activating JNK Signaling Pathway.
REFERENCE   2  (residues 1 to 1086)
  AUTHORS   Husser MC, Ozugergin I, Resta T, Martin VJJ and Piekny AJ.
  TITLE     Cytokinetic diversity in mammalian cells is revealed by the
            characterization of endogenous anillin, Ect2 and RhoA
  JOURNAL   Open Biol 12 (11), 220247 (2022)
   PUBMED   36416720
  REMARK    GeneRIF: Cytokinetic diversity in mammalian cells is revealed by
            the characterization of endogenous anillin, Ect2 and RhoA.
REFERENCE   3  (residues 1 to 1086)
  AUTHORS   Hao F, Wang N, Zhang Y, Xu W, Chen Y, Fei X and Wang J.
  TITLE     E2F7 enhances hepatocellular carcinoma growth by preserving the
            SP1/SOX4/Anillin axis via repressing miRNA-383-5p transcription
  JOURNAL   Mol Carcinog 61 (11), 975-988 (2022)
   PUBMED   35924788
  REMARK    GeneRIF: E2F7 enhances hepatocellular carcinoma growth by
            preserving the SP1/SOX4/Anillin axis via repressing miRNA-383-5p
            transcription.
REFERENCE   4  (residues 1 to 1086)
  AUTHORS   Zhang X, Li L, Huang S, Liao W, Li J, Huang Z, Huang Y and Lian Y.
  TITLE     Comprehensive Analysis of ANLN in Human Tumors: A Prognostic
            Biomarker Associated with Cancer Immunity
  JOURNAL   Oxid Med Cell Longev 2022, 5322929 (2022)
   PUBMED   35340220
  REMARK    GeneRIF: Comprehensive Analysis of ANLN in Human Tumors: A
            Prognostic Biomarker Associated with Cancer Immunity.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1086)
  AUTHORS   Gbadegesin RA, Hall G, Adeyemo A, Hanke N, Tossidou I, Burchette J,
            Wu G, Homstad A, Sparks MA, Gomez J, Jiang R, Alonso A, Lavin P,
            Conlon P, Korstanje R, Stander MC, Shamsan G, Barua M, Spurney R,
            Singhal PC, Kopp JB, Haller H, Howell D, Pollak MR, Shaw AS,
            Schiffer M and Winn MP.
  TITLE     Mutations in the gene that encodes the F-actin binding protein
            anillin cause FSGS
  JOURNAL   J Am Soc Nephrol 25 (9), 1991-2002 (2014)
   PUBMED   24676636
  REMARK    GeneRIF: Identified a missense mutation R431C in anillin (ANLN), an
            F-actin binding cell cycle gene, as a cause of FSGS. We screened
            250 additional families with FSGS and found another variant, G618C,
            that segregates with disease in a second family with FSGS.
REFERENCE   6  (residues 1 to 1086)
  AUTHORS   Straight AF, Field CM and Mitchison TJ.
  TITLE     Anillin binds nonmuscle myosin II and regulates the contractile
            ring
  JOURNAL   Mol Biol Cell 16 (1), 193-201 (2005)
   PUBMED   15496454
  REMARK    GeneRIF: anillin has a role in spatially regulating the contractile
            activity of myosin II during cytokinesis
REFERENCE   7  (residues 1 to 1086)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   8  (residues 1 to 1086)
  AUTHORS   Straight AF, Cheung A, Limouze J, Chen I, Westwood NJ, Sellers JR
            and Mitchison TJ.
  TITLE     Dissecting temporal and spatial control of cytokinesis with a
            myosin II Inhibitor
  JOURNAL   Science 299 (5613), 1743-1747 (2003)
   PUBMED   12637748
REFERENCE   9  (residues 1 to 1086)
  AUTHORS   Kinoshita M, Field CM, Coughlin ML, Straight AF and Mitchison TJ.
  TITLE     Self- and actin-templated assembly of Mammalian septins
  JOURNAL   Dev Cell 3 (6), 791-802 (2002)
   PUBMED   12479805
REFERENCE   10 (residues 1 to 1086)
  AUTHORS   Oegema K, Savoian MS, Mitchison TJ and Field CM.
  TITLE     Functional analysis of a human homologue of the Drosophila actin
            binding protein anillin suggests a role in cytokinesis
  JOURNAL   J Cell Biol 150 (3), 539-552 (2000)
   PUBMED   10931866
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006960.1, AK291254.1 and
            BC070066.1.
            On Sep 27, 2013 this sequence version replaced XP_005249835.1.
            
            Summary: This gene encodes an actin-binding protein that plays a
            role in cell growth and migration, and in cytokinesis. The encoded
            protein is thought to regulate actin cytoskeletal dynamics in
            podocytes, components of the glomerulus. Mutations in this gene are
            associated with focal segmental glomerulosclerosis 8. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Oct 2014].
            
            Transcript Variant: This variant (3) lacks an in-frame exon and
            uses an alternate in-frame splice site compared to variant 1. The
            encoded isoform (3) is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK291254.1, SRR14038197.2108812.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267757 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1086
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.2"
     Protein         1..1086
                     /product="anillin isoform 3"
                     /calculated_mol_wt=119756
     Region          142..229
                     /region_name="Anillin_N"
                     /note="Anillin N-terminus; pfam16018"
                     /db_xref="CDD:435074"
     Region          428..505
                     /region_name="Anillin_N"
                     /note="Anillin N-terminus; pfam16018"
                     /db_xref="CDD:435074"
     Region          762..915
                     /region_name="Anillin"
                     /note="Cell division protein anillin; pfam08174"
                     /db_xref="CDD:429861"
     Region          945..1072
                     /region_name="PH_anillin"
                     /note="Anillin Pleckstrin homology (PH) domain; cd01263"
                     /db_xref="CDD:269964"
     CDS             1..1086
                     /gene="ANLN"
                     /gene_synonym="FSGS8; scra; Scraps"
                     /coded_by="NM_001284302.3:166..3426"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:54443"
                     /db_xref="HGNC:HGNC:14082"
                     /db_xref="MIM:616027"
ORIGIN      
        1 mdpfteklle rtrarrenlq rkmaerptaa prsmthakra rqplseasnq qplsggeeks
       61 ctkpspskkr csdntevevs nlenkqpves tsakscspsp vspqvqpqaa dtisdsvavp
      121 asllgmrrgl nsrleataas svktrmqkla eqrrrwdndd mtddipessl fspmpseeka
      181 aspprpllsn asatpvgrrg rlanlaatic sweddvnhsf akqnsvqeqp gtaclskfss
      241 asgasarins ssvkqeatfc sqrdgdasln kalsssadda slvnasisss vkatspvkst
      301 tsitdaksce gqnpellpkt pisplktgvs kpivkstlsq tvpskgelsr eiclqsqskd
      361 ksttpggtgi kpflerfger cqehskespa rstphrtpii tpntkaiqer lfkqdtssst
      421 thlaqqlkqe rqkelaclrg rfdkgniwsa ekggnskskq letkqethcq stplkkhqgv
      481 sktqslpvte kvtenqipak nsstepkvir eiemsvdddd insskvindl fsdvleegel
      541 dmeksqeemd qalaesseeq edalnissms llaplaqtvg vvspeslvst prlelkdtsr
      601 sdespkpgkf qrtrvpraes gdslgsedrd llysidayrs qrfketerps ikqvivrked
      661 vtskldeknn afpcqvnikq kmqelnnein mqqtviyqas qalnccvdee hgkgsleeae
      721 aerllliatg krtllideln klknegpqrk nkaspqsefm pskgsvtlse irlplkadfv
      781 cstvqkpdaa nyyyliilka gaenmvatpl astsnslngd altftttftl qdvsndfein
      841 ievyslvqkk dpsgldkkkk tskskaitpk rlltsittks nihssvmasp gglsavrtsn
      901 falvgsytls lssvgntkfv ldkvpflssl eghiylkikc qvnssveerg fltifedvsg
      961 fgawhrrwcv lsgncisywt ypddekrknp igrinlanct srqiepanre fcarrntfel
     1021 itvrpqredd retlvsqcrd tlcvtknwls adtkeerdlw mqklnqvlvd irlwqpdacy
     1081 kpigkp
//
LOCUS       NP_001373684             713 aa            linear   PRI 03-APR-2023
DEFINITION  dystrobrevin alpha isoform 18 [Homo sapiens].
ACCESSION   NP_001373684 XP_016881070
VERSION     NP_001373684.1
DBSOURCE    REFSEQ: accession NM_001386755.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 713)
  AUTHORS   Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A,
            Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki
            SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-Garcia
            L, Exposito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I,
            Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS,
            Darras BT, Jou C, Kunkel LM, Hoenicka J, Bonnemann CG, Kang PB and
            Natera-de Benito D.
  TITLE     Variants in DTNA cause a mild, dominantly inherited muscular
            dystrophy
  JOURNAL   Acta Neuropathol 145 (4), 479-496 (2023)
   PUBMED   36799992
  REMARK    GeneRIF: Variants in DTNA cause a mild, dominantly inherited
            muscular dystrophy.
REFERENCE   2  (residues 1 to 713)
  AUTHORS   Malakootian M, Jalilian M, Kalayinia S, Hosseini Moghadam M,
            Heidarali M and Haghjoo M.
  TITLE     Whole-exome sequencing reveals a rare missense variant in DTNA in
            an Iranian pedigree with early-onset atrial fibrillation
  JOURNAL   BMC Cardiovasc Disord 22 (1), 37 (2022)
   PUBMED   35148685
  REMARK    GeneRIF: Whole-exome sequencing reveals a rare missense variant in
            DTNA in an Iranian pedigree with early-onset atrial fibrillation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 713)
  AUTHORS   Fu G, Pei Z and Song N.
  TITLE     Oncogenic microRNA-301b regulates tumor repressor dystrobrevin
            alpha to facilitate cell growth, invasion and migration in
            esophageal cancer
  JOURNAL   Esophagus 18 (2), 315-325 (2021)
   PUBMED   32737801
  REMARK    GeneRIF: Oncogenic microRNA-301b regulates tumor repressor
            dystrobrevin alpha to facilitate cell growth, invasion and
            migration in esophageal cancer.
REFERENCE   4  (residues 1 to 713)
  AUTHORS   Hu ZG, Zhang S, Chen YB, Cao W, Zhou ZY, Zhang JN, Gao G and He SQ.
  TITLE     DTNA promotes HBV-induced hepatocellular carcinoma progression by
            activating STAT3 and regulating TGFbeta1 and P53 signaling
  JOURNAL   Life Sci 258, 118029 (2020)
   PUBMED   32619495
  REMARK    GeneRIF: DTNA promotes HBV-induced hepatocellular carcinoma
            progression by activating STAT3 and regulating TGFbeta1 and P53
            signaling.
REFERENCE   5  (residues 1 to 713)
  AUTHORS   Tsujii N, Hayashi T, Hayashi T, Kimura A and Nishikubo T.
  TITLE     Barth syndrome associated with triple mutation
  JOURNAL   Pediatr Int 60 (4), 385-387 (2018)
   PUBMED   29508483
  REMARK    GeneRIF: Report left ventricular non-compaction associated with
            Barth Syndrome due to triple mutations in TAZ, DTNA, and SDHA genes
            in multiple members of one family.
REFERENCE   6  (residues 1 to 713)
  AUTHORS   Sadoulet-Puccio HM, Feener CA, Schaid DJ, Thibodeau SN, Michels VV
            and Kunkel LM.
  TITLE     The genomic organization of human dystrobrevin
  JOURNAL   Neurogenetics 1 (1), 37-42 (1997)
   PUBMED   10735273
REFERENCE   7  (residues 1 to 713)
  AUTHORS   Blake DJ, Nawrotzki R, Peters MF, Froehner SC and Davies KE.
  TITLE     Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic
            protein
  JOURNAL   J Biol Chem 271 (13), 7802-7810 (1996)
   PUBMED   8631824
REFERENCE   8  (residues 1 to 713)
  AUTHORS   Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E and Kunkel LM.
  TITLE     The three human syntrophin genes are expressed in diverse tissues,
            have distinct chromosomal locations, and each bind to dystrophin
            and its relatives
  JOURNAL   J Biol Chem 271 (5), 2724-2730 (1996)
   PUBMED   8576247
REFERENCE   9  (residues 1 to 713)
  AUTHORS   Ahn AH and Kunkel LM.
  TITLE     Syntrophin binds to an alternatively spliced exon of dystrophin
  JOURNAL   J Cell Biol 128 (3), 363-371 (1995)
   PUBMED   7844150
REFERENCE   10 (residues 1 to 713)
  AUTHORS   Khurana TS, Engle EC, Bennett RR, Silverman GA, Selig S, Bruns GA
            and Kunkel LM.
  TITLE     (CA) repeat polymorphism in the chromosome 18 encoded
            dystrophin-like protein
  JOURNAL   Hum Mol Genet 3 (5), 841 (1994)
   PUBMED   8081380
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC103768.2, AC022601.6 and
            AC068506.10.
            On Sep 3, 2020 this sequence version replaced XP_016881070.1.
            
            Summary: The protein encoded by this gene belongs to the
            dystrobrevin subfamily of the dystrophin family. This protein is a
            component of the dystrophin-associated protein complex (DPC), which
            consists of dystrophin and several integral and peripheral membrane
            proteins, including dystroglycans, sarcoglycans, syntrophins and
            alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma
            and its disruption is associated with various forms of muscular
            dystrophy. Mutations in this gene are associated with left
            ventricular noncompaction with congenital heart defects. Multiple
            alternatively spliced transcript variants encoding different
            isoforms have been identified for this gene. [provided by RefSeq,
            Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.97576.1,
                                           SRR14038192.1166236.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..713
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     Protein         1..713
                     /product="dystrobrevin alpha isoform 18"
                     /note="dystrophin-related protein 3"
                     /calculated_mol_wt=80402
     Region          54..214
                     /region_name="EFh_DTNA"
                     /note="EF-hand-like motif found in alpha-dystrobrevin;
                     cd16249"
                     /db_xref="CDD:320007"
     Region          54..95
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320007"
     Region          104..138
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320007"
     Region          144..180
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320007"
     Region          191..214
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320007"
     Region          241..289
                     /region_name="ZZ_dystrophin"
                     /note="Zinc finger, ZZ type. Zinc finger present in
                     dystrophin and dystrobrevin. The ZZ motif coordinates two
                     zinc ions and most likely participates in ligand binding
                     or molecular scaffolding. Dystrophin attaches actin
                     filaments to an integral membrane...; cd02334"
                     /db_xref="CDD:239074"
     Site            order(243,246,258,261,267,270,280,284)
                     /site_type="other"
                     /note="Zinc-binding sites [ion binding]"
                     /db_xref="CDD:239074"
     Site            order(243,246,267,270)
                     /site_type="other"
                     /note="zinc cluster 1 [ion binding]"
                     /db_xref="CDD:239074"
     Site            order(244,255,257,263,265)
                     /site_type="active"
                     /note="putative charged binding surface [active]"
                     /db_xref="CDD:239074"
     Site            order(256,271,286,289)
                     /site_type="active"
                     /note="putative hydrophobic binding surface [active]"
                     /db_xref="CDD:239074"
     Site            order(258,261,280,284)
                     /site_type="other"
                     /note="zinc cluster 2 [ion binding]"
                     /db_xref="CDD:239074"
     Region          438..>628
                     /region_name="MscK"
                     /note="Small-conductance mechanosensitive channel [Cell
                     wall/membrane/envelope biogenesis]; COG3264"
                     /db_xref="CDD:225803"
     Region          446..>516
                     /region_name="PRK05431"
                     /note="seryl-tRNA synthetase; Provisional"
                     /db_xref="CDD:235461"
     CDS             1..713
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
                     /coded_by="NM_001386755.1:330..2471"
                     /note="isoform 18 is encoded by transcript variant 20"
                     /db_xref="CCDS:CCDS92449.1"
                     /db_xref="GeneID:1837"
                     /db_xref="HGNC:HGNC:3057"
                     /db_xref="MIM:601239"
ORIGIN      
        1 miedsgkrgn tmaerrqlfa emraqdldri rlstyrtack lrfvqkkcnl hlvdiwnvie
       61 alrenalnnl dpntelnvsr leavlstify qlnkrmptth qihveqsisl llnfllaafd
      121 peghgkisvf avkmalatlc ggkimdklry ifsmisdssg vmvygrydqf lrevlklpta
      181 vfegpsfgyt eqsarscfsq qkkvtlngfl dtlmsdpppq clvwlpllhr lanvenvfhp
      241 vecsychses mmgfryrcqq chnyqlcqdc fwrghaggsh snqhqmkeyt swkspakklt
      301 nalskslsca ssreplhpmf pdqpekplnl ahivpprpvt smndtlfshs vpssgspfit
      361 rrlpegisas spvaeehsli klyvnqldhg armlessnrl deehrliary aarlaaesss
      421 sqppqqrsap disftidank qqrqliaele nknreilqei qrlrleheqa sqptpekaqq
      481 nptllaelrl lrqrkdeleq rmsalqesrr elmvqleglm kllktqgags prsspshtis
      541 rpipmpirsa sacstpthtp qdsltgvggd vqeafaqssr rnlrndllva adsitntmss
      601 lvkelnsevg setesnvdse fartqfedlv psptsekafl aqiharkpgy ihsgattstm
      661 rgdmvtedad pyvqpedeny endsvrqlen elqmeeylkq klqdeayqvs lqg
//
LOCUS       NP_001238982             285 aa            linear   PRI 03-APR-2023
DEFINITION  protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 1
            [Homo sapiens].
ACCESSION   NP_001238982
VERSION     NP_001238982.1
DBSOURCE    REFSEQ: accession NM_001252053.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 285)
  AUTHORS   Zhang Z, Li F, Li Y, Li Z and Jia G.
  TITLE     In vitro Anti-malignant Property of PCMT1 Silencing and
            Identification of the SNHG16/miR-195/PCMT1 Regulatory Axis in
            Breast Cancer Cells
  JOURNAL   Clin Breast Cancer 23 (3), 302-316 (2023)
   PUBMED   36639265
  REMARK    GeneRIF: In vitro Anti-malignant Property of PCMT1 Silencing and
            Identification of the SNHG16/miR-195/PCMT1 Regulatory Axis in
            Breast Cancer Cells.
REFERENCE   2  (residues 1 to 285)
  AUTHORS   Edwin RK, Challa N, Sharma R, Satyamoorthy K, Parsa K and Misra P.
  TITLE     PIMT/TGS1: An evolving metabolic molecular switch with conserved
            methyl transferase activity
  JOURNAL   Drug Discov Today 27 (8), 2386-2393 (2022)
   PUBMED   35462043
  REMARK    GeneRIF: PIMT/TGS1: An evolving metabolic molecular switch with
            conserved methyl transferase activity.
            Review article
REFERENCE   3  (residues 1 to 285)
  AUTHORS   Belkourchia F and Desrosiers RR.
  TITLE     The Protein L-Isoaspartyl (D-Aspartyl) Methyltransferase Regulates
            Glial-to-Mesenchymal Transition and Migration Induced by TGF-beta1
            in Human U-87 MG Glioma Cells
  JOURNAL   Int J Mol Sci 23 (10), 5698 (2022)
   PUBMED   35628507
  REMARK    GeneRIF: The Protein L-Isoaspartyl (D-Aspartyl) Methyltransferase
            Regulates Glial-to-Mesenchymal Transition and Migration Induced by
            TGF-beta1 in Human U-87 MG Glioma Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 285)
  AUTHORS   Guo J, Du X and Li C.
  TITLE     PCMT1 Is a Potential Prognostic Biomarker and Is Correlated with
            Immune Infiltrates in Breast Cancer
  JOURNAL   Biomed Res Int 2022, 4434887 (2022)
   PUBMED   35535040
  REMARK    GeneRIF: PCMT1 Is a Potential Prognostic Biomarker and Is
            Correlated with Immune Infiltrates in Breast Cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 285)
  AUTHORS   Pyun JA, Kang H, Lee SK, Kim MH and Kwack K.
  TITLE     Association between polymorphisms in the protein L-isoaspartate
            (D-aspartate) O-methyltransferase gene and premature ovarian
            failure
  JOURNAL   Fertil Steril 91 (4 Suppl), 1362-1365 (2009)
   PUBMED   18582870
  REMARK    GeneRIF: Four polymorphisms in the protein
            L-isoaspartyl-O-methyltransferase (PCMT1) gene, encoding a protein
            repair enzyme, are associated with premature ovarian failure (POF).
REFERENCE   6  (residues 1 to 285)
  AUTHORS   Zhu H, Yang W, Lu W, Zhang J, Shaw GM, Lammer EJ and Finnell RH.
  TITLE     A known functional polymorphism (Ile120Val) of the human PCMT1 gene
            and risk of spina bifida
  JOURNAL   Mol Genet Metab 87 (1), 66-70 (2006)
   PUBMED   16256389
  REMARK    GeneRIF: Our results showed that the Ile120Val polymorphism of
            PCMT1 gene is a genetic modifier for the risk of spina bifida.
            Val/Val genotype was associated with a reduction in risk for spina
            bifida.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 285)
  AUTHORS   MacLaren DC, O'Connor CM, Xia YR, Mehrabian M, Klisak I, Sparkes
            RS, Clarke S and Lusis AJ.
  TITLE     The L-isoaspartyl/D-aspartyl protein methyltransferase gene (PCMT1)
            maps to human chromosome 6q22.3-6q24 and the syntenic region of
            mouse chromosome 10
  JOURNAL   Genomics 14 (4), 852-856 (1992)
   PUBMED   1478665
REFERENCE   8  (residues 1 to 285)
  AUTHORS   MacLaren DC, Kagan RM and Clarke S.
  TITLE     Alternative splicing of the human isoaspartyl protein carboxyl
            methyltransferase RNA leads to the generation of a C-terminal -RDEL
            sequence in isozyme II
  JOURNAL   Biochem Biophys Res Commun 185 (1), 277-283 (1992)
   PUBMED   1339271
REFERENCE   9  (residues 1 to 285)
  AUTHORS   Ingrosso D, Kagan RM and Clarke S.
  TITLE     Distinct C-terminal sequences of isozymes I and II of the human
            erythrocyte L-isoaspartyl/D-aspartyl protein methyltransferase
  JOURNAL   Biochem Biophys Res Commun 175 (1), 351-358 (1991)
   PUBMED   1998518
  REMARK    Erratum:[Biochem Biophys Res Commun 1991 Apr 15;176(1):549]
REFERENCE   10 (residues 1 to 285)
  AUTHORS   Ingrosso D, Fowler AV, Bleibaum J and Clarke S.
  TITLE     Sequence of the D-aspartyl/L-isoaspartyl protein methyltransferase
            from human erythrocytes. Common sequence motifs for protein, DNA,
            RNA, and small molecule S-adenosylmethionine-dependent
            methyltransferases
  JOURNAL   J Biol Chem 264 (33), 20131-20139 (1989)
   PUBMED   2684970
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX438393.2, DC421281.1,
            D25547.1 and AI220702.1.
            
            Summary: This gene encodes a member of the type II class of protein
            carboxyl methyltransferase enzymes. The encoded enzyme plays a role
            in protein repair by recognizing and converting D-aspartyl and
            L-isoaspartyl residues resulting from spontaneous deamidation back
            to the normal L-aspartyl form. The encoded protein may play a
            protective role in the pathogenesis of Alzheimer's disease, and
            single nucleotide polymorphisms in this gene have been associated
            with spina bifida and premature ovarian failure. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (6) differs in the 3' UTR compared
            to variant 1. Variants 1 and 6 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.118089.1,
                                           SRR1163657.369454.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..285
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1"
     Protein         1..285
                     /product="protein-L-isoaspartate(D-aspartate)
                     O-methyltransferase isoform 1"
                     /EC_number="2.1.1.77"
                     /note="protein-beta-aspartate methyltransferase;
                     L-isoaspartyl protein carboxyl methyltransferase; protein
                     L-isoaspartyl/D-aspartyl methyltransferase; epididymis
                     secretory sperm binding protein"
                     /calculated_mol_wt=30184
     Region          66..274
                     /region_name="PCMT"
                     /note="Protein-L-isoaspartate(D-aspartate)
                     O-methyltransferase (PCMT); pfam01135"
                     /db_xref="CDD:395902"
     CDS             1..285
                     /gene="PCMT1"
                     /gene_synonym="PIMT"
                     /coded_by="NM_001252053.1:34..891"
                     /note="isoform 1 is encoded by transcript variant 6"
                     /db_xref="GeneID:5110"
                     /db_xref="HGNC:HGNC:8728"
                     /db_xref="MIM:176851"
ORIGIN      
        1 mpgarsggsg gdgsnsgsys gdasgavtvw evvsllgkll gtvvalkvvl yllrvclama
       61 wksggashse lihnlrkngi iktdkvfevm latdrshyak cnpymdspqs igfqatisap
      121 hmhayalell fdqlhegaka ldvgsgsgil tacfarmvgc tgkvigidhi kelvddsvnn
      181 vrkddptlls sgrvqlvvgd grmgyaeeap ydaihvgaaa pvvpqalidq lkpggrlilp
      241 vgpaggnqml eqydklqdgs ikmkplmgvi yvpltdkekq wsrwk
//
LOCUS       NP_001393568             945 aa            linear   PRI 03-APR-2023
DEFINITION  DNA mismatch repair protein Msh2 isoform 11 [Homo sapiens].
ACCESSION   NP_001393568
VERSION     NP_001393568.1
DBSOURCE    REFSEQ: accession NM_001406639.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 945)
  AUTHORS   Hu XQ, Zhang BY and Hua T.
  TITLE     hMSH2 coordinated with the expression of E2F1 promotes platinum
            response in epithelial ovarian cancer
  JOURNAL   J Int Med Res 51 (3), 3000605231163780 (2023)
   PUBMED   36994850
  REMARK    GeneRIF: hMSH2 coordinated with the expression of E2F1 promotes
            platinum response in epithelial ovarian cancer.
REFERENCE   2  (residues 1 to 945)
  AUTHORS   Lu X, Ying Y, Zhang W, Li R and Zhang J.
  TITLE     High MutS homolog 2 expression predicts poor prognosis and is
            related to immune infiltration in endometrial carcinoma
  JOURNAL   Cell Biol Int 47 (1), 201-215 (2023)
   PUBMED   36208091
  REMARK    GeneRIF: High MutS homolog 2 expression predicts poor prognosis and
            is related to immune infiltration in endometrial carcinoma.
REFERENCE   3  (residues 1 to 945)
  AUTHORS   Boumehdi AL, Cherbal F, Khider F, Oukkal M, Mahfouf H, Zebboudj F
            and Maaoui M.
  TITLE     Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in
            64 Algerian Lynch syndrome families: The first nationwide study
  JOURNAL   Ann Hum Genet 86 (6), 328-352 (2022)
   PUBMED   36073783
  REMARK    GeneRIF: Germline variants screening of MLH1, MSH2, MSH6 and PMS2
            genes in 64 Algerian Lynch syndrome families: The first nationwide
            study.
REFERENCE   4  (residues 1 to 945)
  AUTHORS   Singh S, Singh N and Sharma S.
  TITLE     Genetic polymorphisms in the mismatch repair pathway (MMR) genes
            contribute to hematological and gastrointestinal toxicity in North
            Indian lung cancer patients treated with platinum-based
            chemotherapy
  JOURNAL   J Biochem Mol Toxicol 36 (11), e23183 (2022)
   PUBMED   35924411
  REMARK    GeneRIF: Genetic polymorphisms in the mismatch repair pathway (MMR)
            genes contribute to hematological and gastrointestinal toxicity in
            North Indian lung cancer patients treated with platinum-based
            chemotherapy.
REFERENCE   5  (residues 1 to 945)
  AUTHORS   Schamschula E, Kinzel M, Wernstedt A, Oberhuber K, Gottschling H,
            Schnaiter S, Friedrichs N, Merkelbach-Bruse S, Zschocke J, Gallon R
            and Wimmer K.
  TITLE     Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition
            Syndrome Provide Clues for the Interaction between Mismatch Repair
            and Polymerase delta Proofreading Deficiency in Tumorigenesis
  JOURNAL   Biomolecules 12 (10), 1350 (2022)
   PUBMED   36291559
  REMARK    GeneRIF: Teenage-Onset Colorectal Cancers in a Digenic Cancer
            Predisposition Syndrome Provide Clues for the Interaction between
            Mismatch Repair and Polymerase delta Proofreading Deficiency in
            Tumorigenesis.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 945)
  AUTHORS   Wilson TM, Ewel A, Duguid JR, Eble JN, Lescoe MK, Fishel R and
            Kelley MR.
  TITLE     Differential cellular expression of the human MSH2 repair enzyme in
            small and large intestine
  JOURNAL   Cancer Res 55 (22), 5146-5150 (1995)
   PUBMED   7585562
REFERENCE   7  (residues 1 to 945)
  AUTHORS   Wei Q, Xu X, Cheng L, Legerski RJ and Ali-Osman F.
  TITLE     Simultaneous amplification of four DNA repair genes and beta-actin
            in human lymphocytes by multiplex reverse transcriptase-PCR
  JOURNAL   Cancer Res 55 (21), 5025-5029 (1995)
   PUBMED   7585546
REFERENCE   8  (residues 1 to 945)
  AUTHORS   Drummond JT, Li GM, Longley MJ and Modrich P.
  TITLE     Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch
            repair to tumor cells
  JOURNAL   Science 268 (5219), 1909-1912 (1995)
   PUBMED   7604264
REFERENCE   9  (residues 1 to 945)
  AUTHORS   Idos,G. and Valle,L.
  TITLE     Lynch Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301390
REFERENCE   10 (residues 1 to 945)
  AUTHORS   Lynch,H.T., Schuelke,G.S., Kimberling,W.J., Albano,W.A.,
            Lynch,J.F., Biscone,K.A., Lipkin,M.L., Deschner,E.E., Mikol,Y.B.,
            Sandberg,A.A. et al.
  TITLE     Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and
            II). II. Biomarker studies
  JOURNAL   Cancer 56 (4), 939-951 (1985)
   PUBMED   4016686
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079775.6, AC138655.1 and
            AC079250.7.
            
            Summary: This locus is frequently mutated in hereditary
            nonpolyposis colon cancer (HNPCC). When cloned, it was discovered
            to be a human homolog of the E. coli mismatch repair gene mutS,
            consistent with the characteristic alterations in microsatellite
            sequences (RER+ phenotype) found in HNPCC. Two transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Apr 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1965299, SAMEA1968189
                              [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..945
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21-p16.3"
     Protein         1..945
                     /product="DNA mismatch repair protein Msh2 isoform 11"
                     /note="mutS homolog 2, colon cancer, nonpolyposis type 1;
                     DNA mismatch repair protein Msh2 transcript; MutS-like 2"
                     /calculated_mol_wt=105705
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P43246.1)"
     Region          23..853
                     /region_name="MutS"
                     /note="DNA mismatch repair ATPase MutS [Replication,
                     recombination and repair]; COG0249"
                     /db_xref="CDD:223327"
     Site            555
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P43246.1)"
     Site            567
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P43247; propagated from
                     UniProtKB/Swiss-Prot (P43246.1)"
     Region          601..671
                     /region_name="Interaction with EXO1"
                     /note="propagated from UniProtKB/Swiss-Prot (P43246.1)"
     CDS             1..945
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /coded_by="NM_001406639.1:37..2874"
                     /note="isoform 11 is encoded by transcript variant 11"
                     /db_xref="GeneID:4436"
                     /db_xref="HGNC:HGNC:7325"
                     /db_xref="MIM:609309"
ORIGIN      
        1 mavqpketlq lesaaevgfv rffqgmpekp tttvrlfdrg dfytahgeda llaarevfkt
       61 qgvikymgpa gaknlqsvvl skmnfesfvk dlllvrqyrv evyknragnk askendwyla
      121 ykaspgnlsq fedilfgnnd msasigvvgv kmsavdgqrq vgvgyvdsiq rklglcefpd
      181 ndqfsnleal liqigpkecv lpggetagdm gklrqiiqrg giliterkka dfstkdiyqd
      241 lnrllkgkkg eqmnsavlpe menqvavssl savikflell sddsnfgqfe lttfdfsqym
      301 kldiaavral nlfqgsvedt tgsqslaall nkcktpqgqr lvnqwikqpl mdknrieerl
      361 nlveafveda elrqtlqedl lrrfpdlnrl akkfqrqaan lqdcyrlyqg inqlpnviqa
      421 lekhegkhqk lllavfvtpl tdlrsdfskf qemiettldm dqvenheflv kpsfdpnlse
      481 lreimndlek kmqstlisaa rdlgldpgkq ikldssaqfg yyfrvtckee kvlrnnknfs
      541 tvdiqkngvk ftnskltsln eeytknktey eeaqdaivke ivnissgyve pmqtlndvla
      601 qldavvsfah vsngapvpyv rpailekgqg riilkasrha cvevqdeiaf ipndvyfekd
      661 kqmfhiitgp nmggkstyir qtgvivlmaq igcfvpcesa evsivdcila rvgagdsqlk
      721 gvstfmaeml etasilrsat kdsliiidel grgtstydgf glawaiseyi atkigafcmf
      781 athfheltal anqiptvnnl hvtaltteet ltmlyqvkkg vcdqsfgihv aelanfpkhv
      841 iecakqkale leefqyiges qgydimepaa kkcylerenl rvtepkdqcl illtwkrklr
      901 ggkrsacsrp erqnqgsgws amprsrltat saswtqaill pqppk
//
LOCUS       NP_001358654             319 aa            linear   PRI 05-APR-2023
DEFINITION  U3 small nucleolar ribonucleoprotein protein IMP4 isoform g [Homo
            sapiens].
ACCESSION   NP_001358654 XP_024308987
VERSION     NP_001358654.1
DBSOURCE    REFSEQ: accession NM_001371725.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 319)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   2  (residues 1 to 319)
  AUTHORS   Liu C, Tang J, Duan X, Du Y, Wang X and Cui Y.
  TITLE     DDX10 promotes human lung carcinoma proliferation by U3 small
            nucleolar ribonucleoprotein IMP4
  JOURNAL   Thorac Cancer 12 (12), 1873-1880 (2021)
   PUBMED   33973712
  REMARK    GeneRIF: DDX10 promotes human lung carcinoma proliferation by U3
            small nucleolar ribonucleoprotein IMP4.
REFERENCE   3  (residues 1 to 319)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 319)
  AUTHORS   Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI and Mann
            M.
  TITLE     Nucleolar proteome dynamics
  JOURNAL   Nature 433 (7021), 77-83 (2005)
   PUBMED   15635413
REFERENCE   5  (residues 1 to 319)
  AUTHORS   Leary DJ, Terns MP and Huang S.
  TITLE     Components of U3 snoRNA-containing complexes shuttle between nuclei
            and the cytoplasm and differentially localize in nucleoli:
            implications for assembly and function
  JOURNAL   Mol Biol Cell 15 (1), 281-293 (2004)
   PUBMED   14565981
REFERENCE   6  (residues 1 to 319)
  AUTHORS   Granneman S, Gallagher JE, Vogelzangs J, Horstman W, van Venrooij
            WJ, Baserga SJ and Pruijn GJ.
  TITLE     The human Imp3 and Imp4 proteins form a ternary complex with
            hMpp10, which only interacts with the U3 snoRNA in 60-80S
            ribonucleoprotein complexes
  JOURNAL   Nucleic Acids Res 31 (7), 1877-1887 (2003)
   PUBMED   12655004
REFERENCE   7  (residues 1 to 319)
  AUTHORS   Jakel S, Mingot JM, Schwarzmaier P, Hartmann E and Gorlich D.
  TITLE     Importins fulfil a dual function as nuclear import receptors and
            cytoplasmic chaperones for exposed basic domains
  JOURNAL   EMBO J 21 (3), 377-386 (2002)
   PUBMED   11823430
REFERENCE   8  (residues 1 to 319)
  AUTHORS   Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M and
            Lamond AI.
  TITLE     Directed proteomic analysis of the human nucleolus
  JOURNAL   Curr Biol 12 (1), 1-11 (2002)
   PUBMED   11790298
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC132479.2.
            On Jul 23, 2019 this sequence version replaced XP_024308987.1.
            
            Summary: The protein encoded by this gene, along with IMP3 and
            MPP10, is part of the 60-80S U3 small nucleolar ribonucleoprotein
            (U3 snoRNP) complex. This complex is necessary for the early
            cleavage steps of pre-18S ribosomal RNA processing. Several
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Feb 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.865321.1,
                                           SRR1803613.154909.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.1"
     Protein         1..319
                     /product="U3 small nucleolar ribonucleoprotein protein
                     IMP4 isoform g"
                     /note="U3 snoRNP protein 4 homolog; U3 small nucleolar
                     ribonucleoprotein protein IMP4; U3 snoRNP protein IMP4;
                     brix domain-containing protein 4; IMP4, U3 small nucleolar
                     ribonucleoprotein, homolog; IMP4 homolog, U3 small
                     nucleolar ribonucleoprotein"
                     /calculated_mol_wt=36589
     Region          86..281
                     /region_name="Brix"
                     /note="The Brix domain is found in a number of eukaryotic
                     proteins; smart00879"
                     /db_xref="CDD:214879"
     CDS             1..319
                     /gene="IMP4"
                     /gene_synonym="BXDC4"
                     /coded_by="NM_001371725.1:37..996"
                     /note="isoform g is encoded by transcript variant 9"
                     /db_xref="GeneID:92856"
                     /db_xref="HGNC:HGNC:30856"
                     /db_xref="MIM:612981"
ORIGIN      
        1 mlrrearlrr eylyrkaree aqrsaqerke rlrraleenr liptelrrea lalqgslefd
       61 daggegvtsh vddeyrwagv edpkvmitts rdpssrlkmf akelklvfpg aqrmnrgrhe
      121 vgalvracka ngvtdllvvh ehrgtpvgli vshlpfgpta yftlcnvvmr hdipdlgtms
      181 eakphlithg fssrlgkrvs lgafrlglra rpgichsvsl sflvpqvsdi lrylfpvpkd
      241 dshrvitfan qddyisfrhh vykktdhrnv eltevgprfe lklymirlgt leqeatadve
      301 wrwhpytnta rkrvflste
//
LOCUS       NP_004055                198 aa            linear   PRI 10-APR-2023
DEFINITION  cyclin-dependent kinase inhibitor 1B [Homo sapiens].
ACCESSION   NP_004055
VERSION     NP_004055.1
DBSOURCE    REFSEQ: accession NM_004064.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 198)
  AUTHORS   Mazarico-Altisent I, Capel I, Baena N, Bella-Cueto MR, Barcons S,
            Guirao X, Albert L, Cano A, Pareja R, Caixas A and Rigla M.
  TITLE     Novel germline variants of CDKN1B and CDKN2C identified during
            screening for familial primary hyperparathyroidism
  JOURNAL   J Endocrinol Invest 46 (4), 829-840 (2023)
   PUBMED   36334246
  REMARK    GeneRIF: Novel germline variants of CDKN1B and CDKN2C identified
            during screening for familial primary hyperparathyroidism.
REFERENCE   2  (residues 1 to 198)
  AUTHORS   Wang J, Xiao Z, Li P, Wu C, Li Y, Wang Q, Chen Y, Zhou H, Li Z,
            Wang Z, Lan Q and Wang Y.
  TITLE     PRMT6-CDC20 facilitates glioblastoma progression via the
            degradation of CDKN1B
  JOURNAL   Oncogene 42 (14), 1088-1100 (2023)
   PUBMED   36792756
  REMARK    GeneRIF: PRMT6-CDC20 facilitates glioblastoma progression via the
            degradation of CDKN1B.
REFERENCE   3  (residues 1 to 198)
  AUTHORS   La T, Chen S, Zhao XH, Zhou S, Xu R, Teng L, Zhang YY, Ye K, Xu L,
            Guo T, Jamaluddin MF, Feng YC, Tang HJ, Wang Y, Xu Q, Gu Y, Cao H,
            Liu T, Thorne RF, Shao FM, Zhang XD and Jin L.
  TITLE     LncRNA LIMp27 Regulates the DNA Damage Response through p27 in
            p53-Defective Cancer Cells
  JOURNAL   Adv Sci (Weinh) 10 (7), e2204599 (2023)
   PUBMED   36638271
  REMARK    GeneRIF: LncRNA LIMp27 Regulates the DNA Damage Response through
            p27 in p53-Defective Cancer Cells.
REFERENCE   4  (residues 1 to 198)
  AUTHORS   Occhi G, Regazzo D, Trivellin G, Boaretto F, Ciato D, Bobisse S,
            Ferasin S, Cetani F, Pardi E, Korbonits M, Pellegata NS, Sidarovich
            V, Quattrone A, Opocher G, Mantero F and Scaroni C.
  TITLE     A novel mutation in the upstream open reading frame of the CDKN1B
            gene causes a MEN4 phenotype
  JOURNAL   PLoS Genet 9 (3), e1003350 (2013)
   PUBMED   23555276
  REMARK    GeneRIF: This study adds the CDKN1B gene to the short list of genes
            for which mutations that either create, delete, or severely modify
            their regulatory uORFs have been associated with human diseases
REFERENCE   5  (residues 1 to 198)
  AUTHORS   Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink
            K, Hofler H, Fend F, Graw J and Atkinson MJ.
  TITLE     Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia
            syndrome in rats and humans
  JOURNAL   Proc Natl Acad Sci U S A 103 (42), 15558-15563 (2006)
   PUBMED   17030811
  REMARK    GeneRIF: Data demonstrate that germ-line mutations in p27(Kip1) can
            predispose to the development of multiple endocrine tumors in both
            rats and humans.
            Erratum:[Proc Natl Acad Sci U S A. 2006 Dec 12;103(50):19213]
REFERENCE   6  (residues 1 to 198)
  AUTHORS   Gopfert U, Kullmann M and Hengst L.
  TITLE     Cell cycle-dependent translation of p27 involves a responsive
            element in its 5'-UTR that overlaps with a uORF
  JOURNAL   Hum Mol Genet 12 (14), 1767-1779 (2003)
   PUBMED   12837699
REFERENCE   7  (residues 1 to 198)
  AUTHORS   Kullmann M, Gopfert U, Siewe B and Hengst L.
  TITLE     ELAV/Hu proteins inhibit p27 translation via an IRES element in the
            p27 5'UTR
  JOURNAL   Genes Dev 16 (23), 3087-3099 (2002)
   PUBMED   12464637
REFERENCE   8  (residues 1 to 198)
  AUTHORS   Hall M, Bates S and Peters G.
  TITLE     Evidence for different modes of action of cyclin-dependent kinase
            inhibitors: p15 and p16 bind to kinases, p21 and p27 bind to
            cyclins
  JOURNAL   Oncogene 11 (8), 1581-1588 (1995)
   PUBMED   7478582
REFERENCE   9  (residues 1 to 198)
  AUTHORS   Pietenpol JA, Bohlander SK, Sato Y, Papadopoulos N, Liu B, Friedman
            C, Trask BJ, Roberts JM, Kinzler KW, Rowley JD et al.
  TITLE     Assignment of the human p27Kip1 gene to 12p13 and its analysis in
            leukemias
  JOURNAL   Cancer Res 55 (6), 1206-1210 (1995)
   PUBMED   7882309
REFERENCE   10 (residues 1 to 198)
  AUTHORS   Bullrich F, MacLachlan TK, Sang N, Druck T, Veronese ML, Allen SL,
            Chiorazzi N, Koff A, Heubner K, Croce CM et al.
  TITLE     Chromosomal mapping of members of the cdc2 family of protein
            kinases, cdk3, cdk6, PISSLRE, and PITALRE, and a cdk inhibitor,
            p27Kip1, to regions involved in human cancer
  JOURNAL   Cancer Res 55 (6), 1199-1205 (1995)
   PUBMED   7882308
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008115.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a cyclin-dependent kinase inhibitor,
            which shares a limited similarity with CDK inhibitor CDKN1A/p21.
            The encoded protein binds to and prevents the activation of cyclin
            E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle
            progression at G1. The degradation of this protein, which is
            triggered by its CDK dependent phosphorylation and subsequent
            ubiquitination by SCF complexes, is required for the cellular
            transition from quiescence to the proliferative state. Mutations in
            this gene are associated with multiple endocrine neoplasia type IV
            (MEN4). [provided by RefSeq, Apr 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC001971.1, AY004255.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000228872.9/ ENSP00000228872.4
            RefSeq Select criteria :: based on single protein-coding transcript
            regulatory uORF        :: PMID: 12837699
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.1"
     Protein         1..198
                     /product="cyclin-dependent kinase inhibitor 1B"
                     /note="cyclin-dependent kinase inhibitor 1B (p27, Kip1)"
                     /calculated_mol_wt=21942
     Region          1..34
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P46527.1)"
     Site            10
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by UHMK1.
                     /evidence=ECO:0000269|PubMed:10831586,
                     ECO:0000269|PubMed:12042314, ECO:0000269|PubMed:12093740,
                     ECO:0000269|PubMed:14504289, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P46527.1)"
     Region          32..77
                     /region_name="CDI"
                     /note="Cyclin-dependent kinase inhibitor; pfam02234"
                     /db_xref="CDD:426671"
     Region          51..91
                     /region_name="Interaction with CDK2.
                     /evidence=ECO:0000269|PubMed:28666995"
                     /note="propagated from UniProtKB/Swiss-Prot (P46527.1)"
     Site            74
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by SRC.
                     /evidence=ECO:0000269|PubMed:17254967; propagated from
                     UniProtKB/Swiss-Prot (P46527.1)"
     Region          85..198
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P46527.1)"
     Site            88
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by ABL, LYN, SRC and JAK2.
                     /evidence=ECO:0000269|PubMed:16195327,
                     ECO:0000269|PubMed:17254966, ECO:0000269|PubMed:17254967,
                     ECO:0000269|PubMed:21423214; propagated from
                     UniProtKB/Swiss-Prot (P46527.1)"
     Site            89
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:16195327; propagated from
                     UniProtKB/Swiss-Prot (P46527.1)"
     Region          153..169
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P46527.1)"
     Site            157
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CaMK1, PKB/AKT1 and PIM1.
                     /evidence=ECO:0000269|PubMed:12244301,
                     ECO:0000269|PubMed:12244303, ECO:0000269|PubMed:18593906,
                     ECO:0000269|PubMed:23707388; propagated from
                     UniProtKB/Swiss-Prot (P46527.1)"
     Site            170
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P46414; propagated from
                     UniProtKB/Swiss-Prot (P46527.1)"
     Site            187
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PKB/AKT1, CDK1 and CDK2.
                     /evidence=ECO:0000269|PubMed:10323868,
                     ECO:0000269|PubMed:12042314, ECO:0000269|PubMed:16209941,
                     ECO:0000269|PubMed:23478441; propagated from
                     UniProtKB/Swiss-Prot (P46527.1)"
     Site            198
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CaMK1, PKB/AKT1, RPS6KA1,
                     RPS6KA3 and PIM1. /evidence=ECO:0000269|PubMed:12042314,
                     ECO:0000269|PubMed:14504289, ECO:0000269|PubMed:15280662,
                     ECO:0000269|PubMed:18593906, ECO:0000269|PubMed:23707388;
                     propagated from UniProtKB/Swiss-Prot (P46527.1)"
     CDS             1..198
                     /gene="CDKN1B"
                     /gene_synonym="CDKN4; KIP1; MEN1B; MEN4; P27KIP1"
                     /coded_by="NM_004064.5:473..1069"
                     /db_xref="CCDS:CCDS8653.1"
                     /db_xref="GeneID:1027"
                     /db_xref="HGNC:HGNC:1785"
                     /db_xref="MIM:600778"
ORIGIN      
        1 msnvrvsngs pslermdarq aehpkpsacr nlfgpvdhee ltrdlekhcr dmeeasqrkw
       61 nfdfqnhkpl egkyewqeve kgslpefyyr pprppkgack vpaqesqdvs gsrpaaplig
      121 apansedthl vdpktdpsds qtglaeqcag irkrpatdds stqnkranrt eenvsdgspn
      181 agsveqtpkk pglrrrqt
//
LOCUS       NP_001035890             433 aa            linear   PRI 10-APR-2023
DEFINITION  transcription factor AP-2-alpha isoform c [Homo sapiens].
ACCESSION   NP_001035890
VERSION     NP_001035890.1
DBSOURCE    REFSEQ: accession NM_001042425.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 433)
  AUTHORS   Wang J, Chen Q, Peng F, Zhao S, Zhang C, Song X, Yu D, Wu Z, Du J,
            Ni H, Deng H and Deng W.
  TITLE     Transcription factor AP-2alpha activates RNA polymerase
            III-directed transcription and tumor cell proliferation by
            controlling expression of c-MYC and p53
  JOURNAL   J Biol Chem 299 (3), 102945 (2023)
   PUBMED   36707053
  REMARK    GeneRIF: Transcription factor AP-2alpha activates RNA polymerase
            III-directed transcription and tumor cell proliferation by
            controlling expression of c-MYC and p53.
REFERENCE   2  (residues 1 to 433)
  AUTHORS   Qiu J, Fang Y, Xiao S and Zeng F.
  TITLE     AP2a-Mediated Upregulation of miR-125a-5p Ameliorates
            Radiation-Induced Oxidative Stress Injury via BRD4/Nrf2/HO-1
            Signaling
  JOURNAL   Radiat Res 199 (2), 148-160 (2023)
   PUBMED   36469904
  REMARK    GeneRIF: AP2a-Mediated Upregulation of miR-125a-5p Ameliorates
            Radiation-Induced Oxidative Stress Injury via BRD4/Nrf2/HO-1
            Signaling.
REFERENCE   3  (residues 1 to 433)
  AUTHORS   He J, Dong C, Zhang H, Jiang Y, Liu T and Man X.
  TITLE     The oncogenic role of TFAP2A in bladder urothelial carcinoma via a
            novel long noncoding RNA TPRG1-AS1/DNMT3A/CRTAC1 axis
  JOURNAL   Cell Signal 102, 110527 (2023)
   PUBMED   36410635
  REMARK    GeneRIF: The oncogenic role of TFAP2A in bladder urothelial
            carcinoma via a novel long noncoding RNA TPRG1-AS1/DNMT3A/CRTAC1
            axis.
REFERENCE   4  (residues 1 to 433)
  AUTHORS   Zhu JL, Xue WB, Jiang ZB, Feng W, Liu YC, Nie XY and Jin LY.
  TITLE     Long noncoding RNA CDKN2B-AS1 silencing protects against esophageal
            cancer cell invasion and migration by inactivating the TFAP2A/FSCN1
            axis
  JOURNAL   Kaohsiung J Med Sci 38 (12), 1144-1154 (2022)
   PUBMED   36161699
  REMARK    GeneRIF: Long noncoding RNA CDKN2B-AS1 silencing protects against
            esophageal cancer cell invasion and migration by inactivating the
            TFAP2A/FSCN1 axis.
REFERENCE   5  (residues 1 to 433)
  AUTHORS   Lin,A.E., Haldeman-Englert,C.R. and Milunsky,J.M.
  TITLE     Branchiooculofacial Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21634087
REFERENCE   6  (residues 1 to 433)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   7  (residues 1 to 433)
  AUTHORS   Murphy JE and Keen JH.
  TITLE     Recognition sites for clathrin-associated proteins AP-2 and AP-3 on
            clathrin triskelia
  JOURNAL   J Biol Chem 267 (15), 10850-10855 (1992)
   PUBMED   1587861
REFERENCE   8  (residues 1 to 433)
  AUTHORS   Gaynor RB, Muchardt C, Xia YR, Klisak I, Mohandas T, Sparkes RS and
            Lusis AJ.
  TITLE     Localization of the gene for the DNA-binding protein AP-2 to human
            chromosome 6p22.3-pter
  JOURNAL   Genomics 10 (4), 1100-1102 (1991)
   PUBMED   1916817
REFERENCE   9  (residues 1 to 433)
  AUTHORS   Williams T and Tjian R.
  TITLE     Characterization of a dimerization motif in AP-2 and its function
            in heterologous DNA-binding proteins
  JOURNAL   Science 251 (4997), 1067-1071 (1991)
   PUBMED   1998122
REFERENCE   10 (residues 1 to 433)
  AUTHORS   Williams T, Admon A, Luscher B and Tjian R.
  TITLE     Cloning and expression of AP-2, a cell-type-specific transcription
            factor that activates inducible enhancer elements
  JOURNAL   Genes Dev 2 (12A), 1557-1569 (1988)
   PUBMED   3063603
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138885.21, CB990517.1 and
            X52611.1.
            
            Summary: The protein encoded by this gene is a transcription factor
            that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded
            protein functions as either a homodimer or as a heterodimer with
            similar family members. This protein activates the transcription of
            some genes while inhibiting the transcription of others. Defects in
            this gene are a cause of branchiooculofacial syndrome (BOFS). Three
            transcript variants encoding different isoforms have been found for
            this gene.[provided by RefSeq, Dec 2009].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (c)
            has a shorter and distinct N-terminus compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3780275.1,
                                           SRR14038195.1348623.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147596, SAMN02400289
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..433
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.3"
     Protein         1..433
                     /product="transcription factor AP-2-alpha isoform c"
                     /note="activator protein 2; AP-2 transcription factor;
                     activating enhancer-binding protein 2-alpha; transcription
                     factor AP-2 alpha (activating enhancer binding protein 2
                     alpha)"
                     /calculated_mol_wt=47309
     Region          207..401
                     /region_name="TF_AP-2"
                     /note="Transcription factor AP-2; pfam03299"
                     /db_xref="CDD:397406"
     CDS             1..433
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /coded_by="NM_001042425.3:210..1511"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS43422.1"
                     /db_xref="GeneID:7020"
                     /db_xref="HGNC:HGNC:11742"
                     /db_xref="MIM:107580"
ORIGIN      
        1 msilakmgdw qdrhdgtsng tarlpqlgtv gqspytsapp lshtpnadfq ppyfpppyqp
       61 iypqsqdpys hvndpyslnp lhaqpqpqhp gwpgqrqsqe sgllhthrgl phqlsgldpr
      121 rdyrrhedll hgphalssgl gdlsihslph aieevphved pginipdqtv ikkgpvslsk
      181 snsnavsaip inkdnlfggv vnpnevfcsv pgrlsllsst skykvtvaev qrrlsppecl
      241 nasllggvlr raksknggrs lrekldkigl nlpagrrkaa nvtlltslve geavhlardf
      301 gyvcetefpa kavaeflnrq hsdpneqvtr knmllatkqi ckeftdllaq drsplgnsrp
      361 npilepgiqs clthfnlish gfgspavcaa vtalqnylte alkamdkmyl snnpnshtdn
      421 nakssdkeek hrk
//
LOCUS       NP_001310931             471 aa            linear   PRI 10-APR-2023
DEFINITION  catenin alpha-1 isoform 9 [Homo sapiens].
ACCESSION   NP_001310931
VERSION     NP_001310931.1
DBSOURCE    REFSEQ: accession NM_001324002.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 471)
  AUTHORS   Rangarajan ES, Smith EW and Izard T.
  TITLE     Distinct inter-domain interactions of dimeric versus monomeric
            alpha-catenin link cell junctions to filaments
  JOURNAL   Commun Biol 6 (1), 276 (2023)
   PUBMED   36928388
  REMARK    GeneRIF: Distinct inter-domain interactions of dimeric versus
            monomeric alpha-catenin link cell junctions to filaments.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 471)
  AUTHORS   Coudert M, Drouet Y, Delhomelle H, Svrcek M, Benusiglio PR, Coulet
            F, Clark DF, Katona BW, van Hest LP, van der Kolk LE, Cats A, van
            Dieren JM, Nehoray B, Slavin T, Spier I, Huneburg R, Lobo S,
            Oliveira C, Boussemart L, Masson L, Chiesa J, Schwartz M, Buecher
            B, Golmard L, Bouvier AM, Bonadona V, Stoppa-Lyonnet D, Lasset C
            and Colas C.
  TITLE     First estimates of diffuse gastric cancer risks for carriers of
            CTNNA1 germline pathogenic variants
  JOURNAL   J Med Genet 59 (12), 1189-1195 (2022)
   PUBMED   36038258
  REMARK    GeneRIF: First estimates of diffuse gastric cancer risks for
            carriers of CTNNA1 germline pathogenic variants.
REFERENCE   3  (residues 1 to 471)
  AUTHORS   Carneiro F.
  TITLE     Familial and hereditary gastric cancer, an overview
  JOURNAL   Best Pract Res Clin Gastroenterol 58-59, 101800 (2022)
   PUBMED   35988963
  REMARK    GeneRIF: Familial and hereditary gastric cancer, an overview.
            Review article
REFERENCE   4  (residues 1 to 471)
  AUTHORS   Kim M, Park J, Bouhaddou M, Kim K, Rojc A, Modak M, Soucheray M,
            McGregor MJ, O'Leary P, Wolf D, Stevenson E, Foo TK, Mitchell D,
            Herrington KA, Munoz DP, Tutuncuoglu B, Chen KH, Zheng F, Kreisberg
            JF, Diolaiti ME, Gordan JD, Coppe JP, Swaney DL, Xia B, van 't Veer
            L, Ashworth A, Ideker T and Krogan NJ.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   5  (residues 1 to 471)
  AUTHORS   Lobo S, Benusiglio PR, Coulet F, Boussemart L, Golmard L, Spier I,
            Huneburg R, Aretz S, Colas C and Oliveira C.
  TITLE     Cancer predisposition and germline CTNNA1 variants
  JOURNAL   Eur J Med Genet 64 (10), 104316 (2021)
   PUBMED   34425242
  REMARK    GeneRIF: Cancer predisposition and germline CTNNA1 variants.
REFERENCE   6  (residues 1 to 471)
  AUTHORS   Sacco PA, McGranahan TM, Wheelock MJ and Johnson KR.
  TITLE     Identification of plakoglobin domains required for association with
            N-cadherin and alpha-catenin
  JOURNAL   J Biol Chem 270 (34), 20201-20206 (1995)
   PUBMED   7650039
REFERENCE   7  (residues 1 to 471)
  AUTHORS   Knudsen KA, Soler AP, Johnson KR and Wheelock MJ.
  TITLE     Interaction of alpha-actinin with the cadherin/catenin cell-cell
            adhesion complex via alpha-catenin
  JOURNAL   J Cell Biol 130 (1), 67-77 (1995)
   PUBMED   7790378
REFERENCE   8  (residues 1 to 471)
  AUTHORS   Aberle H, Butz S, Stappert J, Weissig H, Kemler R and Hoschuetzky
            H.
  TITLE     Assembly of the cadherin-catenin complex in vitro with recombinant
            proteins
  JOURNAL   J Cell Sci 107 (Pt 12), 3655-3663 (1994)
   PUBMED   7706414
REFERENCE   9  (residues 1 to 471)
  AUTHORS   Herrenknecht K, Ozawa M, Eckerskorn C, Lottspeich F, Lenter M and
            Kemler R.
  TITLE     The uvomorulin-anchorage protein alpha catenin is a vinculin
            homologue
  JOURNAL   Proc Natl Acad Sci U S A 88 (20), 9156-9160 (1991)
   PUBMED   1924379
REFERENCE   10 (residues 1 to 471)
  AUTHORS   Nagafuchi A, Takeichi M and Tsukita S.
  TITLE     The 102 kd cadherin-associated protein: similarity to vinculin and
            posttranscriptional regulation of expression
  JOURNAL   Cell 65 (5), 849-857 (1991)
   PUBMED   1904011
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011405.6.
            
            Summary: This gene encodes a member of the catenin family of
            proteins that play an important role in cell adhesion process by
            connecting cadherins located on the plasma membrane to the actin
            filaments inside the cell. The encoded mechanosensing protein
            contains three vinculin homology domains and undergoes
            conformational changes in response to cytoskeletal tension,
            resulting in the reconfiguration of cadherin-actin filament
            connections. Certain mutations in this gene cause butterfly-shaped
            pigment dystrophy. [provided by RefSeq, May 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.66937.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146411, SAMEA2153031
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     Protein         1..471
                     /product="catenin alpha-1 isoform 9"
                     /note="alpha-E-catenin; renal carcinoma antigen NY-REN-13;
                     catenin (cadherin-associated protein), alpha 1, 102kDa;
                     epididymis secretory sperm binding protein"
                     /calculated_mol_wt=52070
     Region          <1..441
                     /region_name="Vinculin"
                     /note="Vinculin family; pfam01044"
                     /db_xref="CDD:395830"
     CDS             1..471
                     /gene="CTNNA1"
                     /gene_synonym="CAP102; MDBS2; MDPT2"
                     /coded_by="NM_001324002.1:558..1973"
                     /note="isoform 9 is encoded by transcript variant 26"
                     /db_xref="GeneID:1495"
                     /db_xref="HGNC:HGNC:2509"
                     /db_xref="MIM:116805"
ORIGIN      
        1 mtkktrdlrr qlrkavmdhv sdsfletnvp llvlieaakn gnekevkeya qvfrehankl
       61 ievanlacsi snneegvklv rmsasqleal cpqvinaala laakpqskla qenmdlfkeq
      121 wekqvrvltd avdditsidd flavsenhil edvnkcvial qekdvdgldr tagairgraa
      181 rvihvvtsem dnyepgvyte kvleatklls ntvmprfteq veaavealss dpaqpmdene
      241 fidasrlvyd girdirkavl mirtpeeldd sdfetedfdv rsrtsvqted dqliagqsar
      301 aimaqlpqeq kakiaeqvas fqeeksklda evskwddsgn diivlakqmc mimmemtdft
      361 rgkgplknts dvisaakkia eagsrmdklg rtiadhcpds ackqdllayl qrialychql
      421 nicskvkaev qnlggelvvs gncdtcgalq glkgwppplc wpltgwtapc p
//
LOCUS       NP_001358103            1189 aa            linear   PRI 17-APR-2023
DEFINITION  neuronal cell adhesion molecule isoform jj precursor [Homo
            sapiens].
ACCESSION   NP_001358103 XP_016867743
VERSION     NP_001358103.1
DBSOURCE    REFSEQ: accession NM_001371174.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1189)
  AUTHORS   Sannes AC, Christensen JO, Nielsen MB and Gjerstad J.
  TITLE     Stress-induced headache in the general working population is
            moderated by the NRCAM rs2300043 genotype
  JOURNAL   Scand J Pain 23 (2), 326-332 (2022)
   PUBMED   36181733
  REMARK    GeneRIF: Stress-induced headache in the general working population
            is moderated by the NRCAM rs2300043 genotype.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1189)
  AUTHORS   Bai C and Chen DG.
  TITLE     NRCAM acts as a prognostic biomarker and promotes the tumor
            progression in gastric cancer via EMT pathway
  JOURNAL   Tissue Cell 77, 101859 (2022)
   PUBMED   35763884
  REMARK    GeneRIF: NRCAM acts as a prognostic biomarker and promotes the
            tumor progression in gastric cancer via EMT pathway.
REFERENCE   3  (residues 1 to 1189)
  AUTHORS   Huang FJ, Liu YL, Wang J, Zhou YY, Zhao SY and Qin GJ.
  TITLE     LncRNA RUNX1-IT1 affects the differentiation of Th1 cells by
            regulating NrCAM transcription in Graves' disease
  JOURNAL   Cell Cycle 21 (9), 921-933 (2022)
   PUBMED   35220890
  REMARK    GeneRIF: LncRNA RUNX1-IT1 affects the differentiation of Th1 cells
            by regulating NrCAM transcription in Graves' disease.
REFERENCE   4  (residues 1 to 1189)
  AUTHORS   Kurolap A, Kreuder F, Gonzaga-Jauregui C, Duvdevani MP, Harel T,
            Tammer L, Xin B, Bakhtiari S, Rice J, van Eyk CL, Gecz J, Mah JK,
            Atkinson D, Cope H, Sullivan JA, Douek AM, Colquhoun D, Henry J,
            Wlodkowic D, Parman Y, Candayan A, Kocasoy-Orhan E, Ilivitzki A,
            Soudry S, Leibu R, Glaser F, Sency V, Ast G, Shashi V, Fahey MC,
            Battaloglu E, Jordanova A, Meiner V, Innes AM, Wang H, Elpeleg O,
            Kruer MC, Kaslin J and Baris Feldman H.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     Bi-allelic variants in neuronal cell adhesion molecule cause a
            neurodevelopmental disorder characterized by developmental delay,
            hypotonia, neuropathy/spasticity
  JOURNAL   Am J Hum Genet 109 (3), 518-532 (2022)
   PUBMED   35108495
REFERENCE   5  (residues 1 to 1189)
  AUTHORS   Altevogt P, Ben-Ze'ev A, Gavert N, Schumacher U, Schafer H and
            Sebens S.
  TITLE     Recent insights into the role of L1CAM in cancer initiation and
            progression
  JOURNAL   Int J Cancer 147 (12), 3292-3296 (2020)
   PUBMED   32588424
  REMARK    GeneRIF: Recent insights into the role of L1CAM in cancer
            initiation and progression.
            Review article
REFERENCE   6  (residues 1 to 1189)
  AUTHORS   Wang B, Williams H, Du JS, Terrett J and Kenwrick S.
  TITLE     Alternative splicing of human NrCAM in neural and nonneural tissues
  JOURNAL   Mol Cell Neurosci 10 (5-6), 287-295 (1998)
   PUBMED   9604207
REFERENCE   7  (residues 1 to 1189)
  AUTHORS   Grumet M.
  TITLE     Nr-CAM: a cell adhesion molecule with ligand and receptor functions
  JOURNAL   Cell Tissue Res 290 (2), 423-428 (1997)
   PUBMED   9321706
  REMARK    Review article
REFERENCE   8  (residues 1 to 1189)
  AUTHORS   Sakurai T, Lustig M, Nativ M, Hemperly JJ, Schlessinger J, Peles E
            and Grumet M.
  TITLE     Induction of neurite outgrowth through contactin and Nr-CAM by
            extracellular regions of glial receptor tyrosine phosphatase beta
  JOURNAL   J Cell Biol 136 (4), 907-918 (1997)
   PUBMED   9049255
REFERENCE   9  (residues 1 to 1189)
  AUTHORS   Volkmer H, Leuschner R, Zacharias U and Rathjen FG.
  TITLE     Neurofascin induces neurites by heterophilic interactions with
            axonal NrCAM while NrCAM requires F11 on the axonal surface to
            extend neurites
  JOURNAL   J Cell Biol 135 (4), 1059-1069 (1996)
   PUBMED   8922386
REFERENCE   10 (residues 1 to 1189)
  AUTHORS   Lane RP, Chen XN, Yamakawa K, Vielmetter J, Korenberg JR and Dreyer
            WJ.
  TITLE     Characterization of a highly conserved human homolog to the chicken
            neural cell surface protein Bravo/Nr-CAM that maps to chromosome
            band 7q31
  JOURNAL   Genomics 35 (3), 456-465 (1996)
   PUBMED   8812479
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005058.1, AC007567.2 and
            AC005683.2.
            On Jun 28, 2019 this sequence version replaced XP_016867743.1.
            
            Summary: Cell adhesion molecules (CAMs) are members of the
            immunoglobulin superfamily. This gene encodes a neuronal cell
            adhesion molecule with multiple immunoglobulin-like C2-type domains
            and fibronectin type-III domains. This ankyrin-binding protein is
            involved in neuron-neuron adhesion and promotes directional
            signaling during axonal cone growth. This gene is also expressed in
            non-neural tissues and may play a general role in cell-cell
            communication via signaling from its intracellular domain to the
            actin cytoskeleton during directional cell migration. Allelic
            variants of this gene have been associated with autism and
            addiction vulnerability. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1189
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.1"
     Protein         1..1189
                     /product="neuronal cell adhesion molecule isoform jj
                     precursor"
                     /note="NgCAM-related cell adhesion molecule; neuronal
                     surface protein Bravo"
                     /calculated_mol_wt=128446
     sig_peptide     1..29
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3315
     Region          46..140
                     /region_name="IgI_NrCAM"
                     /note="Immunoglobulin (Ig)-like domain of NrCAM (Ng
                     (neuronglia) CAM-related cell adhesion molecule); member
                     of the I-set of Ig superfamily (IgSF) domains; cd05874"
                     /db_xref="CDD:409458"
     Region          46..50
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409458"
     Region          55..59
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409458"
     Region          64..71
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409458"
     Region          77..82
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409458"
     Site            83
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     Region          85..87
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409458"
     Region          94..97
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409458"
     Region          102..106
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409458"
     Region          119..127
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409458"
     Region          130..140
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409458"
     Region          149..238
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          163..167
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          177..181
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          200..204
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          215..220
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            223
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     Region          231..234
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Site            245
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     Site            251
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     Site            276
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     Region          277..358
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          288..292
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          301..305
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            314
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     Region          323..327
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          337..342
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          350..353
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          362..450
                     /region_name="Ig4_NrCAM"
                     /note="Fourth immunoglobulin (Ig)-like domain of NrCAM
                     (NgCAM-related cell adhesion molecule); cd05868"
                     /db_xref="CDD:409454"
     Region          378..382
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409454"
     Region          391..395
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409454"
     Region          415..419
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409454"
     Region          429..434
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409454"
     Site            433
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     Region          442..445
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409454"
     Region          459..542
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          472..476
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          485..489
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            507
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     Region          508..512
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          522..527
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          535..538
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          548..633
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          563..567
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          578..582
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          613..618
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            619
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     Region          626..629
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          637..727
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(637,703,718)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            706
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     Site            order(719..720,722..723)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          740..822
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            792
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     Region          838..930
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            848
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:19139490; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     Site            order(926..927,929..930)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            order(942,1010,1025)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          943..1027
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            983
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     Site            999
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     Site            1009
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     Site            order(1026..1027,1029..1030)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1076..1165
                     /region_name="Bravo_FIGEY"
                     /note="Bravo-like intracellular region; pfam13882"
                     /db_xref="CDD:433552"
     CDS             1..1189
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /coded_by="NM_001371174.1:526..4095"
                     /note="isoform jj precursor is encoded by transcript
                     variant 65"
                     /db_xref="GeneID:4897"
                     /db_xref="HGNC:HGNC:7994"
                     /db_xref="MIM:601581"
ORIGIN      
        1 mqlkimpkkk rlsagrvpli lflcqmisal evpldpklle dlvqpptitq qspkdyiidp
       61 reniviqcea kgkpppsfsw trngthfdid kdplvtmkpg tgtliinims egkaetyegv
      121 yqctarnerg aavsnnivvr psrsplwtke klepitlqsg qslvlpcrpp iglpppiifw
      181 mdnsfqrlpq servsqglng dlyfsnvlpe dtredyicya rfnhtqtiqq kqpisvkvis
      241 vdelndtiaa nlsdtefyga kssrerpptf ltpegnasnk eelrgnvlsl eciaeglptp
      301 iiywakedgm lpknrtvykn fektlqiihv seadsgnyqc iaknalgaih htisvrvkaa
      361 pywitapqnl vlspgedgtl icrangnpkp riswltngvp ieiapddpsr kidgdtiifs
      421 nvqerssavy qcnasneygy llanafvnvl aeppriltpa ntlyqvianr palldcaffg
      481 splptiewfk gakgsalhed iyvlhengtl eipvaqkdst gtytcvarnk lgmaknevhl
      541 eikdptwivk qpeyavvqrg smvsfeckvk hdhtlsltvl wlkdnrelps derftvdkdh
      601 lvvadvsddd sgtytcvant tldsvsasav lsvvdvpnpp fdleltdqld ksvqlswtpg
      661 ddnnspitkf iieyedamhk pglwhhqtev sgtqttaqlk lspyvnysfr vmavnsigks
      721 lpseaseqyl tkasepdknp taveglgsep dnlvitwkpl ngfesngpgl qykvswrqkd
      781 gddewtsvvv anvskyivsg tptfvpylik vqalndmgfa pepavvmghs gedlpmvapg
      841 nvrvnvvnst laevhwdpvp lksirghlqg yriyywktqs sskrnrrhie kkiltfqgsk
      901 thgmlpglep fshytlnvrv vngkgegpas pdrvfntpeg vpsapsslki vnptldsltl
      961 ewdppshpng ilteytlkyq pinsthelgp lvdlkipank trwtlknlnf strykfyfya
     1021 qtsagsgsqi teeavttvde amasrqvdia tqgwfiglmc avallilill ivcfirrnkg
     1081 gkypvkeked ahadpeiqpm keddgtfgey sdaedhkplk kgsrtpsdrt vkkedsddsl
     1141 vdygegvngq fnedgsfigq ysgkkekepa egnesseaps pvnamnsfv
//
LOCUS       NP_001333160            1216 aa            linear   PRI 17-DEC-2022
DEFINITION  RAB11-binding protein RELCH isoform g [Homo sapiens].
ACCESSION   NP_001333160 NP_001333161
VERSION     NP_001333160.1
DBSOURCE    REFSEQ: accession NM_001346231.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1216)
  AUTHORS   Sobajima T, Yoshimura SI, Maeda T, Miyata H, Miyoshi E and Harada
            A.
  TITLE     The Rab11-binding protein RELCH/KIAA1468 controls intracellular
            cholesterol distribution
  JOURNAL   J Cell Biol 217 (5), 1777-1796 (2018)
   PUBMED   29514919
  REMARK    GeneRIF: These data suggest that RELCH promotes nonvesicular
            cholesterol transport from recycling endosomes to the trans-Golgi
            network through membrane tethering.
REFERENCE   2  (residues 1 to 1216)
  AUTHORS   Golla A, Jansson A, Ramser J, Hellebrand H, Zahn R, Meitinger T,
            Belohradsky BH and Meindl A.
  TITLE     Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a
            susceptibility gene located on chromosome 18q21.3-18q22
  JOURNAL   Eur J Hum Genet 10 (3), 217-221 (2002)
   PUBMED   11973628
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090396.9 and AC027514.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 23, 2018 this sequence version replaced NP_001333161.1.
            
            Transcript Variant: This variant (4), as well as variant 3, encodes
            isoform c.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.260022.1,
                                           SRR1660807.67652.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644646.2/ ENSP00000494314.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1216
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.33"
     Protein         1..1216
                     /product="RAB11-binding protein RELCH isoform g"
                     /note="RAB11-binding protein containing LisH, coiled-coil,
                     and HEAT repeats; RAB11-binding protein RELCH"
                     /calculated_mol_wt=134458
     Region          1..73
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P260.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9P260.2)"
     Site            20
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9P260.2)"
     Site            22
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9P260.2)"
     Site            32
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q148V7; propagated from
                     UniProtKB/Swiss-Prot (Q9P260.2)"
     Site            54
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9P260.2)"
     Site            56
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9P260.2)"
     Region          135..177
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P260.2)"
     Site            180
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9P260.2)"
     Site            182
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9P260.2)"
     Site            183
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9P260.2)"
     Site            186
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9P260.2)"
     Site            385
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q148V7; propagated from
                     UniProtKB/Swiss-Prot (Q9P260.2)"
     Region          401..477
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P260.2)"
     Site            453
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P260.2)"
     Region          497..779
                     /region_name="Interaction with RAB11A and RAB11B.
                     /evidence=ECO:0000250|UniProtKB:Q148V7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P260.2)"
     Site            order(499..500,503,506..507,540..541,545,548..549,
                     579..580,583,586..587,590,618..619,622,625..626,658..659,
                     662,665)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          519..551
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          561..591
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          600..626
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          637..665
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          679..720
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          728..756
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            792
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q148V7; propagated from
                     UniProtKB/Swiss-Prot (Q9P260.2)"
     Site            order(982..983,986,989..990,1021..1022,1025,1028..1029,
                     1032,1064..1065,1068,1071..1072,1075,1111..1112,1115,
                     1118..1119)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          1004..1042
                     /region_name="HEAT 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00103"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P260.2)"
     Region          1004..1032
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          1042..1076
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          1085..1119
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            1149
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q148V7; propagated from
                     UniProtKB/Swiss-Prot (Q9P260.2)"
     CDS             1..1216
                     /gene="RELCH"
                     /gene_synonym="HsT3308; HsT885; KIAA1468"
                     /coded_by="NM_001346231.2:252..3902"
                     /note="isoform g is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS86676.1"
                     /db_xref="GeneID:57614"
                     /db_xref="HGNC:HGNC:29289"
                     /db_xref="MIM:618001"
ORIGIN      
        1 maamapggsg sgggvnpfls dsdedddeva ateerravlr lgagsgldpg sagslspqdp
       61 valgssarpg lpgeasaaav alggtgetpa rlsidaiaaq llrdqyllta lelhtelles
      121 grelprlrdy fsnpgnferq sgtppgmgap gvpgaagvgg aggrepstas gggqlnrags
      181 istldsldfa rysddgnret dekvavlefe lrkaketiqa lranltkaae hevplqerkn
      241 yksspeiqep ikplekraln flvnefllkn nykltsitfs denddqdfel wddvglnipk
      301 ppdllqlyrd fgnhqvtgkd lvdvasgvee delealtpii snlpptletp qpaensmlvq
      361 kledkislln sekwslmeqi rrlksemdfl knehfaipav cdsvqppldq lphkdsedsg
      421 qhpdvnssdk gkntdihlsi sdeadstipk enspnsfprr eregmppssl sskktvhfdk
      481 pnrklspafh qallsfcrms adsrlgyevs riadseksvm lmlgrclphi vpnvllakre
      541 eliplilcta clhpepkerd qllhilfnli krpddeqrqm iltgcvafar hvgptrveae
      601 llpqcweqin hkyperrllv aescgalapy lpkeirsslv lsmlqqmlme dkadlvreav
      661 ikslgiimgy iddpdkyhqg felllsalgd pservvsath qvflpayaaw ttelgnlqsh
      721 liltllnkie kllregehgl dehklhmyls alqslipslf alvlqnapfs skaklhgevp
      781 qievtrfprp msplqdvsti igsreqlavl lqlydyqleq egttgwesll wvvnqllpql
      841 ieivgkinvt stacvhefsr ffwrlcrtfg kiftntkvkp qfqeilrlse enidssagng
      901 vltkatvpiy atgvltcyiq eedrkllvgf ledvmtllsl shapldslka sfvelganpa
      961 yhellltvlw ygvvhtsalv rctaarmfel lvkgvnetlv aqrvvpalit lssdpeisvr
     1021 iatipafgti metviqrell ervkmqlasf ledpqyqdqh slhteiiktf grvgpnaepr
     1081 frdefviphl hklalvnnlq ivdskrldia thlfeaysal sccfisedlm vnhflpglrc
     1141 lrtdmehlsp ehevilssmi keceqkvenk tvqepqgsms iaaslvsedt ktkflnkmgq
     1201 lttsgamlan vfqrkk
//
LOCUS       NP_004365                 75 aa            linear   PRI 18-DEC-2022
DEFINITION  cytochrome c oxidase subunit 6C [Homo sapiens].
ACCESSION   NP_004365
VERSION     NP_004365.1
DBSOURCE    REFSEQ: accession NM_004374.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 75)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 75)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 75)
  AUTHORS   Zong S, Wu M, Gu J, Liu T, Guo R and Yang M.
  TITLE     Structure of the intact 14-subunit human cytochrome c oxidase
  JOURNAL   Cell Res 28 (10), 1026-1034 (2018)
   PUBMED   30030519
REFERENCE   4  (residues 1 to 75)
  AUTHORS   Sasaki K, Ono M, Takabe K, Suzuki A and Kurihara Y.
  TITLE     Specific intron-dependent loading of DAZAP1 onto the cox6c
            transcript suppresses pre-mRNA splicing efficacy and induces cell
            growth retardation
  JOURNAL   Gene 657, 1-8 (2018)
   PUBMED   29505834
  REMARK    GeneRIF: Results report that a DAZAP1-targeted transcript, the
            cox6c mRNA, carries the E1 and E2 elements. Cox6c is a nuclear gene
            that encodes a subunit of complex IV in the mitochondrial
            respiratory chain.
REFERENCE   5  (residues 1 to 75)
  AUTHORS   Othumpangat S, Noti JD and Beezhold DH.
  TITLE     Lung epithelial cells resist influenza A infection by inducing the
            expression of cytochrome c oxidase VIc which is modulated by miRNA
            4276
  JOURNAL   Virology 468-470, 256-264 (2014)
   PUBMED   25203353
  REMARK    GeneRIF: Within the first 3h of infection with influenza virus,
            significant down-regulation of hsa-miRNA-4276 is followed by a
            2-fold increase in cytochrome c oxidase VIc mRNA was found to occur
            in human alveolar and bronchial epithelial cells.
REFERENCE   6  (residues 1 to 75)
  AUTHORS   Kish SJ, Mastrogiacomo F, Guttman M, Furukawa Y, Taanman JW, Dozic
            S, Pandolfo M, Lamarche J, DiStefano L and Chang LJ.
  TITLE     Decreased brain protein levels of cytochrome oxidase subunits in
            Alzheimer's disease and in hereditary spinocerebellar ataxia
            disorders: a nonspecific change?
  JOURNAL   J Neurochem 72 (2), 700-707 (1999)
   PUBMED   9930743
REFERENCE   7  (residues 1 to 75)
  AUTHORS   Hofmann S, Lichtner P, Schuffenhauer S, Gerbitz KD and Meitinger T.
  TITLE     Assignment of the human genes coding for cytochrome c oxidase
            subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome
            bands 15q25, 8q22-->q23 and 5q14 and of three pseudogenes (COX5AP1,
            COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14-->q21 by FISH and
            radiation hybrid mapping
  JOURNAL   Cytogenet Cell Genet 83 (3-4), 226-227 (1998)
   PUBMED   10072584
REFERENCE   8  (residues 1 to 75)
  AUTHORS   Lenka N, Vijayasarathy C, Mullick J and Avadhani NG.
  TITLE     Structural organization and transcription regulation of nuclear
            genes encoding the mammalian cytochrome c oxidase complex
  JOURNAL   Prog Nucleic Acid Res Mol Biol 61, 309-344 (1998)
   PUBMED   9752724
  REMARK    Review article
REFERENCE   9  (residues 1 to 75)
  AUTHORS   Wang FL, Wang Y, Wong WK, Liu Y, Addivinola FJ, Liang P, Chen LB,
            Kantoff PW and Pardee AB.
  TITLE     Two differentially expressed genes in normal human prostate tissue
            and in carcinoma
  JOURNAL   Cancer Res 56 (16), 3634-3637 (1996)
   PUBMED   8705997
REFERENCE   10 (residues 1 to 75)
  AUTHORS   Otsuka M, Mizuno Y, Yoshida M, Kagawa Y and Ohta S.
  TITLE     Nucleotide sequence of cDNA encoding human cytochrome c oxidase
            subunit VIc
  JOURNAL   Nucleic Acids Res 16 (22), 10916 (1988)
   PUBMED   2849755
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC105328.13.
            
            Summary: Cytochrome c oxidase, the terminal enzyme of the
            mitochondrial respiratory chain, catalyzes the electron transfer
            from reduced cytochrome c to oxygen. It is a heteromeric complex
            consisting of 3 catalytic subunits encoded by mitochondrial genes
            and multiple structural subunits encoded by nuclear genes. The
            mitochondrially-encoded subunits function in electron transfer, and
            the nuclear-encoded subunits may be involved in the regulation and
            assembly of the complex. This nuclear gene encodes subunit VIc,
            which has 77% amino acid sequence identity with mouse subunit VIc.
            This gene is up-regulated in prostate cancer cells. A pseudogene
            has been found on chromosomes 16p12. [provided by RefSeq, Jul
            2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA181749.1, SRR1660807.118684.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000520468.7/
                                                  ENSP00000428895.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..75
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.2"
     Protein         1..75
                     /product="cytochrome c oxidase subunit 6C"
                     /EC_number="7.1.1.9"
                     /note="cytochrome c oxidase subunit VIc preprotein;
                     cytochrome c oxidase polypeptide VIc; epididymis secretory
                     sperm binding protein"
                     /calculated_mol_wt=8650
     Region          6..74
                     /region_name="COX6C"
                     /note="Cytochrome c oxidase subunit VIc; pfam02937"
                     /db_xref="CDD:427067"
     Site            order(11..12,14..15,17..19,21..23,25..27,29..31,33..35,
                     37..39,41..42,45..46,48..49,52..53,56,60)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:438623"
     Site            14..54
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P09669.2)"
     CDS             1..75
                     /gene="COX6C"
                     /coded_by="NM_004374.4:101..328"
                     /db_xref="CCDS:CCDS6284.1"
                     /db_xref="GeneID:1345"
                     /db_xref="HGNC:HGNC:2285"
                     /db_xref="MIM:124090"
ORIGIN      
        1 mapevlpkpr mrgllarrlr nhmavafvls lgvaalykfr vadqrkkaya dfyrnydvmk
       61 dfeemrkagi fqsvk
//
LOCUS       NP_008997                 76 aa            linear   PRI 25-DEC-2022
DEFINITION  cAMP-dependent protein kinase inhibitor gamma [Homo sapiens].
ACCESSION   NP_008997
VERSION     NP_008997.1
DBSOURCE    REFSEQ: accession NM_007066.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 76)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 76)
  AUTHORS   Chen X, Hausman BS, Luo G, Zhou G, Murakami S, Rubin J and
            Greenfield EM.
  TITLE     Protein kinase inhibitor gamma reciprocally regulates osteoblast
            and adipocyte differentiation by downregulating leukemia inhibitory
            factor
  JOURNAL   Stem Cells 31 (12), 2789-2799 (2013)
   PUBMED   23963683
  REMARK    GeneRIF: Results show that endogenous levels of Pkig reciprocally
            regulate osteoblast and adipocyte differentiation and that this
            reciprocal regulation is mediated in part by LIF.
REFERENCE   3  (residues 1 to 76)
  AUTHORS   Zhao L, Yang S, Zhou GQ, Yang J, Ji D, Sabatakos G and Zhu T.
  TITLE     Downregulation of cAMP-dependent protein kinase inhibitor gamma is
            required for BMP-2-induced osteoblastic differentiation
  JOURNAL   Int J Biochem Cell Biol 38 (12), 2064-2073 (2006)
   PUBMED   16870489
  REMARK    GeneRIF: These results indicate that the downregulation of PKIgamma
            may be prerequisite for the PKA activation during the osteoblastic
            differentiation of precursor cells.
REFERENCE   4  (residues 1 to 76)
  AUTHORS   Yu J, Yu L, Chen Z, Zheng L, Chen X, Wang X, Ren D and Zhao S.
  TITLE     Protein inhibitor of neuronal nitric oxide synthase interacts with
            protein kinase A inhibitors
  JOURNAL   Brain Res Mol Brain Res 99 (2), 145-149 (2002)
   PUBMED   11978406
REFERENCE   5  (residues 1 to 76)
  AUTHORS   Lum H, Hao Z, Gayle D, Kumar P, Patterson CE and Uhler MD.
  TITLE     Vascular endothelial cells express isoforms of protein kinase A
            inhibitor
  JOURNAL   Am J Physiol Cell Physiol 282 (1), C59-C66 (2002)
   PUBMED   11742798
  REMARK    GeneRIF: Functional studies of the mouse homolog
REFERENCE   6  (residues 1 to 76)
  AUTHORS   Zheng L, Yu L, Tu Q, Zhang M, He H, Chen W, Gao J, Yu J, Wu Q and
            Zhao S.
  TITLE     Cloning and mapping of human PKIB and PKIG, and comparison of
            tissue expression patterns of three members of the protein kinase
            inhibitor family, including PKIA
  JOURNAL   Biochem J 349 (Pt 2), 403-407 (2000)
   PUBMED   10880337
REFERENCE   7  (residues 1 to 76)
  AUTHORS   Collins SP and Uhler MD.
  TITLE     Characterization of PKIgamma, a novel isoform of the protein kinase
            inhibitor of cAMP-dependent protein kinase
  JOURNAL   J Biol Chem 272 (29), 18169-18178 (1997)
   PUBMED   9218452
  REMARK    GeneRIF: Functional studies of the mouse homolog
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC104257.1 and Z97053.2.
            
            Summary: This gene encodes a member of the protein kinase inhibitor
            family. Studies of a similar protein in mice suggest that this
            protein acts as a potent competitive cAMP-dependent protein kinase
            inhibitor, and is a predominant form of inhibitor in various
            tissues. The encoded protein may be involved in osteogenesis.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 4. Variants 1-5 encode the same protein.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..76
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     Protein         1..76
                     /product="cAMP-dependent protein kinase inhibitor gamma"
                     /note="protein kinase (cAMP-dependent, catalytic)
                     inhibitor gamma"
                     /calculated_mol_wt=7779
     Region          1..25
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2B9.1)"
     Region          2..69
                     /region_name="PKI"
                     /note="cAMP-dependent protein kinase inhibitor; pfam02827"
                     /db_xref="CDD:427008"
     Region          44..76
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2B9.1)"
     CDS             1..76
                     /gene="PKIG"
                     /gene_synonym="PKI-gamma"
                     /coded_by="NM_007066.5:198..428"
                     /db_xref="CCDS:CCDS13334.1"
                     /db_xref="GeneID:11142"
                     /db_xref="HGNC:HGNC:9019"
                     /db_xref="MIM:604932"
ORIGIN      
        1 mmevessysd fiscdrtgrr navpdiqgds eavsvrklag dmgelalega egqvegsapd
       61 keagnqpqss dgttss
//
LOCUS       NP_006042                493 aa            linear   PRI 28-DEC-2022
DEFINITION  amyloid-beta A4 precursor protein-binding family B member 3 isoform
            d [Homo sapiens].
ACCESSION   NP_006042
VERSION     NP_006042.3
DBSOURCE    REFSEQ: accession NM_006051.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 493)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 493)
  AUTHORS   Sugis E, Dauvillier J, Leontjeva A, Adler P, Hindie V, Moncion T,
            Collura V, Daudin R, Loe-Mie Y, Herault Y, Lambert JC, Hermjakob H,
            Pupko T, Rain JC, Xenarios I, Vilo J, Simonneau M and Peterson H.
  TITLE     HENA, heterogeneous network-based data set for Alzheimer's disease
  JOURNAL   Sci Data 6 (1), 151 (2019)
   PUBMED   31413325
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 493)
  AUTHORS   Grossmann A, Benlasfer N, Birth P, Hegele A, Wachsmuth F, Apelt L
            and Stelzl U.
  TITLE     Phospho-tyrosine dependent protein-protein interaction network
  JOURNAL   Mol Syst Biol 11 (3), 794 (2015)
   PUBMED   25814554
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 493)
  AUTHORS   Jones RB, Gordus A, Krall JA and MacBeath G.
  TITLE     A quantitative protein interaction network for the ErbB receptors
            using protein microarrays
  JOURNAL   Nature 439 (7073), 168-174 (2006)
   PUBMED   16273093
REFERENCE   5  (residues 1 to 493)
  AUTHORS   Chang Y, Tesco G, Jeong WJ, Lindsley L, Eckman EA, Eckman CB, Tanzi
            RE and Guenette SY.
  TITLE     Generation of the beta-amyloid peptide and the amyloid precursor
            protein C-terminal fragment gamma are potentiated by FE65L1
  JOURNAL   J Biol Chem 278 (51), 51100-51107 (2003)
   PUBMED   14527950
REFERENCE   6  (residues 1 to 493)
  AUTHORS   Tanahashi H and Tabira T.
  TITLE     Characterization of an amyloid precursor protein-binding protein
            Fe65L2 and its novel isoforms lacking phosphotyrosine-interaction
            domains
  JOURNAL   Biochem J 367 (Pt 3), 687-695 (2002)
   PUBMED   12153398
REFERENCE   7  (residues 1 to 493)
  AUTHORS   Tanahashi H and Tabira T.
  TITLE     Genome structure and chromosomal mapping of the gene for Fe65L2
            interacting with Alzheimer's beta-amyloid precursor protein
  JOURNAL   Biochem Biophys Res Commun 258 (2), 385-389 (1999)
   PUBMED   10329396
REFERENCE   8  (residues 1 to 493)
  AUTHORS   Tanahashi H and Tabira T.
  TITLE     Molecular cloning of human Fe65L2 and its interaction with the
            Alzheimer's beta-amyloid precursor protein
  JOURNAL   Neurosci Lett 261 (3), 143-146 (1999)
   PUBMED   10081969
REFERENCE   9  (residues 1 to 493)
  AUTHORS   Duilio A, Faraonio R, Minopoli G, Zambrano N and Russo T.
  TITLE     Fe65L2: a new member of the Fe65 protein family interacting with
            the intracellular domain of the Alzheimer's beta-amyloid precursor
            protein
  JOURNAL   Biochem J 330 (Pt 1) (Pt 1), 513-519 (1998)
   PUBMED   9461550
REFERENCE   10 (residues 1 to 493)
  AUTHORS   Ermekova KS, Zambrano N, Linn H, Minopoli G, Gertler F, Russo T and
            Sudol M.
  TITLE     The WW domain of neural protein FE65 interacts with proline-rich
            motifs in Mena, the mammalian homolog of Drosophila enabled
  JOURNAL   J Biol Chem 272 (52), 32869-32877 (1997)
   PUBMED   9407065
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC013158.1, AF224711.1,
            AB209839.1 and BF448559.1.
            On May 13, 2006 this sequence version replaced NP_006042.2.
            
            Summary: The protein encoded by this gene is a member of the APBB
            protein family. It is found in the cytoplasm and binds to the
            intracellular domain of the Alzheimer's disease beta-amyloid
            precursor protein (APP) as well as to other APP-like proteins. It
            is thought that the protein encoded by this gene may modulate the
            internalization of APP. Multiple transcript variants encoding
            several different isoforms have been found for this gene. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (4) encodes the longest isoform
            (d).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF224711.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..493
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     Protein         1..493
                     /product="amyloid-beta A4 precursor protein-binding family
                     B member 3 isoform d"
                     /note="FE65-like protein 2; amyloid precursor interacting
                     protein; protein Fe65-like 2; amyloid beta (A4) precursor
                     protein-binding, family B, member 3"
                     /calculated_mol_wt=53078
     Region          30..61
                     /region_name="WW"
                     /note="Domain with 2 conserved Trp (W) residues;
                     smart00456"
                     /db_xref="CDD:197736"
     Site            order(45,56)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          116..261
                     /region_name="PTB1_Fe65"
                     /note="Fe65 N-terminal Phosphotyrosine-binding (PTB)
                     domain; cd01272"
                     /db_xref="CDD:269970"
     Site            order(131,199,225)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:269970"
     Site            order(198..203,225,247,251)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269970"
     Region          290..420
                     /region_name="PTB2_Fe65"
                     /note="Fe65 C-terminal Phosphotyrosine-binding (PTB)
                     domain; cd01271"
                     /db_xref="CDD:269969"
     Site            order(301,379,398)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269969"
     Site            order(312,314,366..367,369..376,378,386,392,402,404,407,
                     411,414..415,417..418)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:269969"
     CDS             1..493
                     /gene="APBB3"
                     /gene_synonym="FE65L2; SRA"
                     /coded_by="NM_006051.4:354..1835"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS4227.1"
                     /db_xref="GeneID:10307"
                     /db_xref="HGNC:HGNC:20708"
                     /db_xref="MIM:602711"
ORIGIN      
        1 mlgkdymlai ilvncdddlw gdhsleveag lppgwrkihd aagtyywhvp sgstqwqrpt
       61 welgdaedpg tgtegiwglr ppkgrsfssl essldrsnsl swyggesyiq smepgakcfa
      121 vrslgwvevp eedlapgkss iavnnciqql aqtrsrsqpp dgawgegqnm lmilkkdams
      181 lvnpldhsli hcqplvhirv wgvgsskgrd spisapardf afvasdkdsc mlkchvfccd
      241 vpakaiasal hglcaqilse rvevsgdasc cspdpisped lprqvellda vsqaaqkyea
      301 lymgtlpvtk amgmdvlnea igtltargdr nawvptmlsv sdslmtahpi qaeasteeep
      361 lwqcpvrlvt figvgrdpht fgliadlgrq sfqcaafwcq phagglseav qaacmvqyqk
      421 clvasaargk awgaqararl rlkrtssmds pggplplpll kggvggagat prkrgvfsfl
      481 dafrlkpsll hmp
//
LOCUS       NP_001364489            1601 aa            linear   PRI 29-DEC-2022
DEFINITION  dedicator of cytokinesis protein 1 isoform 13 [Homo sapiens].
ACCESSION   NP_001364489
VERSION     NP_001364489.1
DBSOURCE    REFSEQ: accession NM_001377560.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1601)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (residues 1 to 1601)
  AUTHORS   Li S, Liu F, Zheng K, Wang W, Qiu E, Pei Y, Wang S, Zhang J and
            Zhang X.
  TITLE     CircDOCK1 promotes the tumorigenesis and cisplatin resistance of
            osteogenic sarcoma via the miR-339-3p/IGF1R axis
  JOURNAL   Mol Cancer 20 (1), 161 (2021)
   PUBMED   34876132
  REMARK    GeneRIF: CircDOCK1 promotes the tumorigenesis and cisplatin
            resistance of osteogenic sarcoma via the miR-339-3p/IGF1R axis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1601)
  AUTHORS   Yang X, Wang Y, Pang S, Li X, Wang P, Ma R, Ma Y and Song C.
  TITLE     LINC00665 promotes the progression of acute myeloid leukemia by
            regulating the miR-4458/DOCK1 pathway
  JOURNAL   Sci Rep 11 (1), 5009 (2021)
   PUBMED   33658535
  REMARK    GeneRIF: LINC00665 promotes the progression of acute myeloid
            leukemia by regulating the miR-4458/DOCK1 pathway.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1601)
  AUTHORS   Ferrari MG, Ganaie AA, Shabenah A, Mansini AP, Wang L, Murugan P,
            Davicioni E, Wang J, Deng Y, Hoeppner LH, Warlick CA, Konety BR and
            Saleem M.
  TITLE     Identifying and treating ROBO1-ve /DOCK1+ve prostate cancer: An
            aggressive cancer subtype prevalent in African American patients
  JOURNAL   Prostate 80 (13), 1045-1057 (2020)
   PUBMED   32687658
  REMARK    GeneRIF: Identifying and treating ROBO1(-ve) /DOCK1(+ve) prostate
            cancer: An aggressive cancer subtype prevalent in African American
            patients.
REFERENCE   5  (residues 1 to 1601)
  AUTHORS   Zhang W, Zheng X, Xie S, Zhang S, Mao J, Cai Y, Lu X, Chen W, Ni H
            and Xie L.
  TITLE     TBOPP enhances the anticancer effect of cisplatin by inhibiting
            DOCK1 in renal cell carcinoma
  JOURNAL   Mol Med Rep 22 (2), 1187-1194 (2020)
   PUBMED   32626999
  REMARK    GeneRIF: TBOPP enhances the anticancer effect of cisplatin by
            inhibiting DOCK1 in renal cell carcinoma.
REFERENCE   6  (residues 1 to 1601)
  AUTHORS   Wu YC and Horvitz HR.
  TITLE     C. elegans phagocytosis and cell-migration protein CED-5 is similar
            to human DOCK180
  JOURNAL   Nature 392 (6675), 501-504 (1998)
   PUBMED   9548255
REFERENCE   7  (residues 1 to 1601)
  AUTHORS   Savill,J.
  TITLE     Apoptosis. Phagocytic docking without shocking
  JOURNAL   Nature 392 (6675), 442-443 (1998)
   PUBMED   9548247
REFERENCE   8  (residues 1 to 1601)
  AUTHORS   Takai S, Hasegawa H, Kiyokawa E, Yamada K, Kurata T and Matsuda M.
  TITLE     Chromosomal mapping of the gene encoding DOCK180, a major
            Crk-binding protein, to 10q26.13-q26.3 by fluorescence in situ
            hybridization
  JOURNAL   Genomics 35 (2), 403-404 (1996)
   PUBMED   8661160
REFERENCE   9  (residues 1 to 1601)
  AUTHORS   Matsuda M, Ota S, Tanimura R, Nakamura H, Matuoka K, Takenawa T,
            Nagashima K and Kurata T.
  TITLE     Interaction between the amino-terminal SH3 domain of CRK and its
            natural target proteins
  JOURNAL   J Biol Chem 271 (24), 14468-14472 (1996)
   PUBMED   8662907
REFERENCE   10 (residues 1 to 1601)
  AUTHORS   Hasegawa H, Kiyokawa E, Tanaka S, Nagashima K, Gotoh N, Shibuya M,
            Kurata T and Matsuda M.
  TITLE     DOCK180, a major CRK-binding protein, alters cell morphology upon
            translocation to the cell membrane
  JOURNAL   Mol Cell Biol 16 (4), 1770-1776 (1996)
   PUBMED   8657152
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL607029.17, BX470155.5,
            AL359094.14, AL390920.22, AL157711.12 and AL355316.12.
            
            Summary: This gene encodes a member of the dedicator of cytokinesis
            protein family. Dedicator of cytokinesis proteins act as guanine
            nucleotide exchange factors for small Rho family G proteins. The
            encoded protein regulates the small GTPase Rac, thereby influencing
            several biological processes, including phagocytosis and cell
            migration. Overexpression of this gene has also been associated
            with certain cancers. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Mar 2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1965299, SAMEA1966682
                              [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1601
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.2"
     Protein         1..1601
                     /product="dedicator of cytokinesis protein 1 isoform 13"
                     /note="DOwnstream of CrK; 180 kDa protein downstream of
                     CRK"
                     /calculated_mol_wt=184680
     Region          13..>43
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:450141"
     Region          <44..152
                     /region_name="DOCK_N"
                     /note="DOCK N-terminus; pfam16172"
                     /db_xref="CDD:435187"
     Region          160..355
                     /region_name="C2_Dock-A"
                     /note="C2 domains found in Dedicator Of CytoKinesis (Dock)
                     class A proteins; cd08694"
                     /db_xref="CDD:176076"
     Region          950..1348
                     /region_name="DHR2_DOCK1"
                     /note="Dock Homology Region 2, a GEF domain, of Class A
                     Dedicator of Cytokinesis 1; cd11707"
                     /db_xref="CDD:212580"
     Site            order(1034,1041..1043,1045,1047..1048,1050..1051,
                     1054..1055,1057..1058,1061..1062,1065,1152,1155..1158,
                     1161)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:212580"
     Site            order(1100,1102..1105,1121..1123,1140..1142,1175..1178,
                     1189..1190,1193,1232,1236,1256..1257,1259..1260,
                     1264..1265,1268..1274,1277,1307,1323,1325..1326,1329,1332)
                     /site_type="other"
                     /note="Rac binding site [polypeptide binding]"
                     /db_xref="CDD:212580"
     Site            1268..1273
                     /site_type="other"
                     /note="nucleotide sensor"
                     /db_xref="CDD:212580"
     CDS             1..1601
                     /gene="DOCK1"
                     /gene_synonym="ced5; DOCK180"
                     /coded_by="NM_001377560.1:91..4896"
                     /note="isoform 13 is encoded by transcript variant 13"
                     /db_xref="GeneID:1793"
                     /db_xref="HGNC:HGNC:2987"
                     /db_xref="MIM:601403"
ORIGIN      
        1 mtrwvptkre ekygvafyny dargadelsl qigdtvhile tyevmdvtdi ingkvddedk
       61 qhfipfqpla lddairhkpl nmssrfsprv agendflqtv inkviaakev nhkgqglwvt
      121 lkllpgdihq irkefphlvd rttavarktg fpeiimpgdv rndiyvtlvq gdfdkgsktt
      181 aknvevtvsv ydedgkrleh vifpgagdea iseyksviyy qvkqprwfet vkvaipiedv
      241 nrshlrftfr hrssqdskdk sekifalafv klmrydgttl rdgehdlivy kaeakkleda
      301 atylslpstk aeleekghsa tgksmqslgs ctiskdsfqi stlvcstklt qnvdllgllk
      361 wrsntsllqq nlrqlmkvdg gevvkflqdt ldalfnimme nsesetfdtl vfdalvfiig
      421 liadrkfqhf npvletyikk hfsatlaytk ltkvlknyvd gaekpgvneq lykamkales
      481 ifkfivrsri lfnqlyenkg eadfvesllq lfrsindmms smsdqtvrvk gaalkylpti
      541 vndvklvfdp kelskmftef ilnvpmgllt iqklycliei vhsdlftqhd creillpmmt
      601 dqlkyhlerq edleaccqll shilevlyrk dvgptqrhvq iimekllrtv nrtvismgrd
      661 selignfvac mtailrqmed yhyahliktf gkmrtdvvdf lmetfimfkn ligknvypfd
      721 wvimnmvqnk vflrainqya dmlnkkfldq anfelqlwnn yfhlavaflt qeslqlenfs
      781 sakrakilnk ygdmrrqigf eirdmwynlg qhkikfipem vgpilemtli petelrkati
      841 piffdmmqce fhstrsfqmf eneiitkldh eveggrgdeq ykvlfdkill ehcrkhkyla
      901 ktgetfvklv vrlmerlldy rtimhdenke nrmsctvnvl nfykeieree myirylyklc
      961 dlhkecdnyt eaaytlllha kllkwsedvc vahltqrdgy qattqgqlke qlyqeiihyf
     1021 dkgkmweeai algkelaeqy enemfdyeql sellkkqaqf yenivkvirp kpdyfavgyy
     1081 gqgfptflrg kvfiyrgkey erredfearl ltqfpnaekm kttsppgddi knspgqyiqc
     1141 ftvkpkldlp pkfhrpvseq ivsfyrvnev qrfeysrpir kgeknpdnef anmwiertiy
     1201 ttayklpgil rwfevksvfm veisplenai etmqltndki nsmvqqhldd pslpinplsm
     1261 llngivdpav mggfanyeka fftdrylqeh peahekiekl kdliawqipf laegirihgd
     1321 kvtealrpfh ermeacfkql kekvekeygv rimpsslddr rgsrprsmvr sftmpsssrp
     1381 lsvasvssls sdstpsrpgs dgfalepllp kkmhsrsqdk ldkddlekek kdkkkekrns
     1441 khqeifekef kptdislqqs eavilsetis plrpqrpksq vmnvigserr fsvspsspss
     1501 qqtpppvtpr aklsfsmqss lelngmtgad vadvppplpl kgsvadygnl menqdllgsp
     1561 tpppppphqr hlppplpskt ppppppkttr kqasvdsgiv q
//
LOCUS       NP_001373101             361 aa            linear   PRI 30-DEC-2022
DEFINITION  tetratricopeptide repeat protein 23-like isoform 2 [Homo sapiens].
ACCESSION   NP_001373101
VERSION     NP_001373101.1
DBSOURCE    REFSEQ: accession NM_001386172.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 361)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 361)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 361)
  AUTHORS   Pan TL, Hsu SY, Wang PW, Cheng YT, Chang YC, Saha S, Hu J and
            Ouyang P.
  TITLE     FLJ25439, a novel cytokinesis-associated protein, induces
            tetraploidization and maintains chromosomal stability via enhancing
            expression of endoplasmic reticulum stress chaperones
  JOURNAL   Cell Cycle 14 (8), 1174-1187 (2015)
   PUBMED   25751302
  REMARK    GeneRIF: FLJ25439 is involved in pathways related to
            anti-apoptosis, protein folding, the cell cycle, and cytoskeleton
            regulation.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC026801.7.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.81173.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            NMD candidate :: PMID: 25751302
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..361
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     Protein         1..361
                     /product="tetratricopeptide repeat protein 23-like isoform
                     2"
                     /note="tetratricopeptide repeat protein 23-like"
                     /calculated_mol_wt=40706
     Region          253..332
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     CDS             1..361
                     /gene="TTC23L"
                     /gene_synonym="MC25-1"
                     /coded_by="NM_001386172.1:41..1126"
                     /note="isoform 2 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS54840.1"
                     /db_xref="GeneID:153657"
                     /db_xref="HGNC:HGNC:26355"
                     /db_xref="MIM:616344"
ORIGIN      
        1 mqaspiript vsndidwdfc fhmsqqteip ahqqtdelyp tggcgeseee tkakekekai
       61 dcmshpkekl aqsqkkvaql ikekmntqan kelircvils riifgdhhwk caralanlay
      121 gyltlrglpv qakkhatsak ntlltwkant tsnkekeeil ealvklyytl gvawllqnrg
      181 reayfnlqka ernmkelkel ykggvcelqv sendltlalg raslaihrln lalayfekai
      241 gdviaakgdr tsdlislyee aaqieqlrrn hnqaiqylqq ahsvcvslft evspktaems
      301 allakayams geaqhrdave iyfirsinay ratlgsedfe tlstteefck wlvqngekqd
      361 k
//
LOCUS       NP_001393959             473 aa            linear   PRI 31-DEC-2022
DEFINITION  5'-AMP-activated protein kinase subunit gamma-2 isoform l [Homo
            sapiens].
ACCESSION   NP_001393959
VERSION     NP_001393959.1
DBSOURCE    REFSEQ: accession NM_001407030.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 473)
  AUTHORS   Zhang J, Han X, Lu Q, Feng Y, Ma A and Wang T.
  TITLE     Left ventricular non-compaction cardiomyopathy associated with the
            PRKAG2 mutation
  JOURNAL   BMC Med Genomics 15 (1), 214 (2022)
   PUBMED   36221081
  REMARK    GeneRIF: Left ventricular non-compaction cardiomyopathy associated
            with the PRKAG2 mutation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 473)
  AUTHORS   Komurcu-Bayrak E, Kalkan MA, Coban N, Ozsait-Selcuk B and Bayrak F.
  TITLE     Identification of the pathogenic effects of missense variants
            causing PRKAG2 cardiomyopathy
  JOURNAL   Arch Biochem Biophys 727, 109340 (2022)
   PUBMED   35787834
  REMARK    GeneRIF: Identification of the pathogenic effects of missense
            variants causing PRKAG2 cardiomyopathy.
REFERENCE   3  (residues 1 to 473)
  AUTHORS   Gong X, Yu P, Wu T, He Y, Zhou K, Hua Y, Lin S, Wang T, Huang H and
            Li Y.
  TITLE     Controversial molecular functions of CBS versus non-CBS domain
            variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report
            and literature review
  JOURNAL   Mol Genet Genomic Med 10 (7), e1962 (2022)
   PUBMED   35588295
  REMARK    GeneRIF: Controversial molecular functions of CBS versus non-CBS
            domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case
            report and literature review.
            Review article
REFERENCE   4  (residues 1 to 473)
  AUTHORS   Rodriguez Ortuno J, Pena Pena ML and Lopez Haldon JE.
  TITLE     Hypertrophic cardiomyopathy phenocopy (PRKAG2 syndrome) due to
            p.Arg302Gln mutation
  JOURNAL   Med Clin (Barc) 158 (7), 340-341 (2022)
   PUBMED   34656342
  REMARK    GeneRIF: Hypertrophic cardiomyopathy phenocopy (PRKAG2 syndrome)
            due to p.Arg302Gln mutation.', trans 'Fenocopia de miocardiopatia
            hipertrofica (sindrome de PRKAG2) debido a la mutacion
            P.Arg302.Gln.
REFERENCE   5  (residues 1 to 473)
  AUTHORS   Maron BJ and Maron MS.
  TITLE     PRKAG2 Glycogen Storage Disease Cardiomyopathy: Out of the Darkness
            and Into the Light
  JOURNAL   J Am Coll Cardiol 76 (2), 198-200 (2020)
   PUBMED   32646570
REFERENCE   6  (residues 1 to 473)
  AUTHORS   Gollob MH, Green MS, Tang AS, Gollob T, Karibe A, Ali Hassan AS,
            Ahmad F, Lozado R, Shah G, Fananapazir L, Bachinski LL and Roberts
            R.
  TITLE     Identification of a gene responsible for familial
            Wolff-Parkinson-White syndrome
  JOURNAL   N Engl J Med 344 (24), 1823-1831 (2001)
   PUBMED   11407343
  REMARK    Erratum:[N Engl J Med 2001 Aug 16;345(7):552. Hassan AS [corrected
            to Ali Hassan AS]]
REFERENCE   7  (residues 1 to 473)
  AUTHORS   Blair E, Redwood C, Ashrafian H, Oliveira M, Broxholme J, Kerr B,
            Salmon A, Ostman-Smith I and Watkins H.
  TITLE     Mutations in the gamma(2) subunit of AMP-activated protein kinase
            cause familial hypertrophic cardiomyopathy: evidence for the
            central role of energy compromise in disease pathogenesis
  JOURNAL   Hum Mol Genet 10 (11), 1215-1220 (2001)
   PUBMED   11371514
REFERENCE   8  (residues 1 to 473)
  AUTHORS   MacRae CA, Ghaisas N, Kass S, Donnelly S, Basson CT, Watkins HC,
            Anan R, Thierfelder LH, McGarry K, Rowland E et al.
  TITLE     Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White
            syndrome maps to a locus on chromosome 7q3
  JOURNAL   J Clin Invest 96 (3), 1216-1220 (1995)
   PUBMED   7657794
REFERENCE   9  (residues 1 to 473)
  AUTHORS   Hofmann B, Nishanian P, Nguyen T, Insixiengmay P and Fahey JL.
  TITLE     Human immunodeficiency virus proteins induce the inhibitory
            cAMP/protein kinase A pathway in normal lymphocytes
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6676-6680 (1993)
   PUBMED   7688126
REFERENCE   10 (residues 1 to 473)
  AUTHORS   Hofmann B, Nishanian P, Baldwin RL, Insixiengmay P, Nel A and Fahey
            JL.
  TITLE     HIV inhibits the early steps of lymphocyte activation, including
            initiation of inositol phospholipid metabolism
  JOURNAL   J Immunol 145 (11), 3699-3705 (1990)
   PUBMED   1978848
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC074257.5, AC093583.3 and
            AC006966.3.
            
            Summary: AMP-activated protein kinase (AMPK) is a heterotrimeric
            protein composed of a catalytic alpha subunit, a noncatalytic beta
            subunit, and a noncatalytic regulatory gamma subunit. Various forms
            of each of these subunits exist, encoded by different genes. AMPK
            is an important energy-sensing enzyme that monitors cellular energy
            status and functions by inactivating key enzymes involved in
            regulating de novo biosynthesis of fatty acid and cholesterol. This
            gene is a member of the AMPK gamma subunit family. Mutations in
            this gene have been associated with Wolff-Parkinson-White syndrome,
            familial hypertrophic cardiomyopathy, and glycogen storage disease
            of the heart. Alternate transcriptional splice variants, encoding
            different isoforms, have been characterized. [provided by RefSeq,
            Jan 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..473
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     Protein         1..473
                     /product="5'-AMP-activated protein kinase subunit gamma-2
                     isoform l"
                     /note="5'-AMP-activated protein kinase subunit gamma-2;
                     AMPK subunit gamma-2; protein kinase, AMP-activated, gamma
                     2 non-catalytic subunit; epididymis secretory sperm
                     binding protein"
                     /calculated_mol_wt=52667
     Region          173..310
                     /region_name="CBS_euAMPK_gamma-like_repeat1"
                     /note="Two tandem repeats of the cystathionine
                     beta-synthase (CBS pair) domains found in AMP-activated
                     protein kinase gamma-like proteins, repeat 1; cd04618"
                     /db_xref="CDD:341388"
     Site            order(181,183..185,207..209,288,302,304,306..307,310)
                     /site_type="other"
                     /note="ligand binding site II [chemical binding]"
                     /db_xref="CDD:341388"
     Region          181..254
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341388"
     Site            order(207,221,225..226,229,266,288..290,306)
                     /site_type="other"
                     /note="ligand binding site I [chemical binding]"
                     /db_xref="CDD:341388"
     Region          266..310
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341388"
     Region          336..459
                     /region_name="CBS_euAMPK_gamma-like_repeat2"
                     /note="CBS pair domain found in 5'-AMP (adenosine
                     monophosphate)-activated protein kinase; cd04641"
                     /db_xref="CDD:341399"
     Site            order(337,339..341,363..365,435,448,450,452..453,456)
                     /site_type="other"
                     /note="ligand binding site II [chemical binding]"
                     /db_xref="CDD:341399"
     Region          337..402
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341399"
     Site            order(363,376,380..381,384,413,435..437,452)
                     /site_type="other"
                     /note="ligand binding site I [chemical binding]"
                     /db_xref="CDD:341399"
     Region          413..456
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341399"
     CDS             1..473
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /coded_by="NM_001407030.1:496..1917"
                     /note="isoform l is encoded by transcript variant 15"
                     /db_xref="GeneID:51422"
                     /db_xref="HGNC:HGNC:9386"
                     /db_xref="MIM:602743"
ORIGIN      
        1 mgsavmdtkk kkdvsspggs ggkknasqkr rslrvhipdl ssfamplldg dlegsgkhss
       61 rkvdspfgpg spskgffsrg pqprpsspms apvrpktspg spktvfpfsy qespprsprr
      121 msfsgifrss skesspnsnp atspggirff srsrktveds esgvymrfmr shkcydivpt
      181 ssklvvfdtt lqvkkaffal vangvraapl weskkqsfvg mltitdfini lhryykspmv
      241 qiyeleehki etwrelylqe tfkplvnisp daslfdavys liknkihrlp vidpisgnal
      301 yilthkrilk flqlfmsdmp kpafmkqnld elgigtyhni afihpdtpii kalnifverr
      361 isalpvvdes gkvvdiyskf dvinlaaekt ynnlditvtq alqhrsqyfe gvvkcnklei
      421 letivdrivr aevhrlvvvn eadsivgiis lsdilqalil tpagakqket ete
//
LOCUS       NP_001397734             498 aa            linear   PRI 01-JAN-2023
DEFINITION  complex I assembly factor ACAD9, mitochondrial isoform 2 [Homo
            sapiens].
ACCESSION   NP_001397734 XP_024309253
VERSION     NP_001397734.1
DBSOURCE    REFSEQ: accession NM_001410805.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 498)
  AUTHORS   Carroll J, He J, Ding S, Fearnley IM and Walker JE.
  TITLE     TMEM70 and TMEM242 help to assemble the rotor ring of human ATP
            synthase and interact with assembly factors for complex I
  JOURNAL   Proc Natl Acad Sci U S A 118 (13) (2021)
   PUBMED   33753518
REFERENCE   2  (residues 1 to 498)
  AUTHORS   Formosa LE, Muellner-Wong L, Reljic B, Sharpe AJ, Jackson TD,
            Beilharz TH, Stojanovski D, Lazarou M, Stroud DA and Ryan MT.
  TITLE     Dissecting the Roles of Mitochondrial Complex I Intermediate
            Assembly Complex Factors in the Biogenesis of Complex I
  JOURNAL   Cell Rep 31 (3), 107541 (2020)
   PUBMED   32320651
REFERENCE   3  (residues 1 to 498)
  AUTHORS   Leipnitz G, Mohsen AW, Karunanidhi A, Seminotti B, Roginskaya VY,
            Markantone DM, Grings M, Mihalik SJ, Wipf P, Van Houten B and
            Vockley J.
  TITLE     Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic
            reticulum-mitochondria crosstalk, and reactive oxygen species in
            fibroblasts from patients with complex I deficiency
  JOURNAL   Sci Rep 8 (1), 1165 (2018)
   PUBMED   29348607
  REMARK    GeneRIF: Mutations in the ND6, NDUFV1 or ACAD9 genes are
            responsible for the mitochondrial complex I deficiency.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 498)
  AUTHORS   Dewulf JP, Barrea C, Vincent MF, De Laet C, Van Coster R, Seneca S,
            Marie S and Nassogne MC.
  TITLE     Evidence of a wide spectrum of cardiac involvement due to ACAD9
            mutations: Report on nine patients
  JOURNAL   Mol Genet Metab 118 (3), 185-189 (2016)
   PUBMED   27233227
  REMARK    GeneRIF: Study identified new mutations in ACAD9 responsible for a
            wide spectrum of heart diseases in the presence of elevated serum
            lactate levels.
REFERENCE   5  (residues 1 to 498)
  AUTHORS   Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D,
            Huang T and Bove KE.
  TITLE     Neonatal multiorgan failure due to ACAD9 mutation and complex I
            deficiency with mitochondrial hyperplasia in liver, cardiac
            myocytes, skeletal muscle, and renal tubules
  JOURNAL   Hum Pathol 49, 27-32 (2016)
   PUBMED   26826406
  REMARK    GeneRIF: Case Report: neonatal multiorgan failure due to ACAD9
            mutation and complex I deficiency with mitochondrial hyperplasia in
            liver, cardiac myocytes, skeletal muscle, and renal tubules.
REFERENCE   6  (residues 1 to 498)
  AUTHORS   He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N,
            Nicholls RD, Pei Z, Watkins PA and Vockley J.
  TITLE     A new genetic disorder in mitochondrial fatty acid beta-oxidation:
            ACAD9 deficiency
  JOURNAL   Am J Hum Genet 81 (1), 87-103 (2007)
   PUBMED   17564966
  REMARK    GeneRIF: We now report three cases of ACAD9 deficiency.
REFERENCE   7  (residues 1 to 498)
  AUTHORS   Oey NA, Ruiter JP, Ijlst L, Attie-Bitach T, Vekemans M, Wanders RJ
            and Wijburg FA.
  TITLE     Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA
            dehydrogenase in human embryonic and fetal brain
  JOURNAL   Biochem Biophys Res Commun 346 (1), 33-37 (2006)
   PUBMED   16750164
  REMARK    GeneRIF: acyl-CoA dehydrogenase 9 (ACAD 9)was identified as the
            long-chain ACAD in human embryonic and fetal brain and central
            nervous tissue, using in situ hybridization as well as enzymatic
            studies
REFERENCE   8  (residues 1 to 498)
  AUTHORS   Ensenauer R, He M, Willard JM, Goetzman ES, Corydon TJ, Vandahl BB,
            Mohsen AW, Isaya G and Vockley J.
  TITLE     Human acyl-CoA dehydrogenase-9 plays a novel role in the
            mitochondrial beta-oxidation of unsaturated fatty acids
  JOURNAL   J Biol Chem 280 (37), 32309-32316 (2005)
   PUBMED   16020546
  REMARK    GeneRIF: ACAD9 may play a role in the turnover of lipid membrane
            unsaturated fatty acids that are essential for membrane integrity
            and structure
REFERENCE   9  (residues 1 to 498)
  AUTHORS   Oey NA, den Boer ME, Ruiter JP, Wanders RJ, Duran M, Waterham HR,
            Boer K, van der Post JA and Wijburg FA.
  TITLE     High activity of fatty acid oxidation enzymes in human placenta:
            implications for fetal-maternal disease
  JOURNAL   J Inherit Metab Dis 26 (4), 385-392 (2003)
   PUBMED   12971426
  REMARK    GeneRIF: Very high activity of CPT2 and VCLAD, involved in the
            metabolism of long-chain fatty acids. Fatty acid oxidation may play
            role in energy generation in placenta, and deficiency in may result
            in placental dysfunction and gestational complications.
REFERENCE   10 (residues 1 to 498)
  AUTHORS   Zhang J, Zhang W, Zou D, Chen G, Wan T, Zhang M and Cao X.
  TITLE     Cloning and functional characterization of ACAD-9, a novel member
            of human acyl-CoA dehydrogenase family
  JOURNAL   Biochem Biophys Res Commun 297 (4), 1033-1042 (2002)
   PUBMED   12359260
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC112484.8.
            On Aug 16, 2022 this sequence version replaced XP_024309253.1.
            
            Summary: This gene encodes a member of the acyl-CoA dehydrogenase
            family. Members of this family of proteins localize to the
            mitochondria and catalyze the rate-limiting step in the
            beta-oxidation of fatty acyl-CoA. The encoded protein is
            specifically active toward palmitoyl-CoA and long-chain unsaturated
            substrates. Mutations in this gene cause acyl-CoA dehydrogenase
            family member type 9 deficiency. Alternate splicing results in
            multiple transcript variants.[provided by RefSeq, Mar 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.1838155.1,
                                           SRR14038192.3877844.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..498
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.3"
     Protein         1..498
                     /product="complex I assembly factor ACAD9, mitochondrial
                     isoform 2"
                     /note="acyl-Coenzyme A dehydrogenase family, member 9;
                     very-long-chain acyl-CoA dehydrogenase VLCAD; complex I
                     assembly factor ACAD9, mitochondrial"
                     /calculated_mol_wt=54953
     Region          <1..322
                     /region_name="ACAD"
                     /note="Acyl-CoA dehydrogenase; cl09933"
                     /db_xref="CDD:447864"
     Site            order(25,55,57,90,92,301..303,305,307)
                     /site_type="active"
                     /db_xref="CDD:173838"
     CDS             1..498
                     /gene="ACAD9"
                     /gene_synonym="MC1DN20; NPD002"
                     /coded_by="NM_001410805.1:348..1844"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS93369.1"
                     /db_xref="GeneID:28976"
                     /db_xref="HGNC:HGNC:21497"
                     /db_xref="MIM:611103"
ORIGIN      
        1 mysrlgeiis mdgsitvtla ahqaiglkgi ilagteeqka kylpklasge hiaafcltep
       61 asgsdaasir sratlsedkk hyilngskvw itngglanif tvfaktevvd sdgsvkdkit
      121 afiverdfgg vtngkpedkl girgsntcev hfentkipve nilgevgdgf kvamnilnsg
      181 rfsmgsvvag llkrliemta eyactrkqfn krlsefgliq ekfalmaqka yvmesmtylt
      241 agmldqpgfp dcsieaamvk vfsseaawqc vsealqilgg lgytrdypye rilrdtrill
      301 ifegtneilr myialtglqh agrilttrih elkqakvstv mdtvgrrlrd slgrtvdlgl
      361 tgnhgvvhps ladsankfee ntycfgrtve tlllrfgkti meeqlvlkrv anilinlygm
      421 tavlsrasrs iriglrnhdh evllantfcv eaylqnlfsl sqldkyapen ldeqikkvsq
      481 qilekrayic ahpldrtc
//
LOCUS       NP_000766                502 aa            linear   PRI 19-FEB-2023
DEFINITION  cytochrome P450 2J2 [Homo sapiens].
ACCESSION   NP_000766
VERSION     NP_000766.2
DBSOURCE    REFSEQ: accession NM_000775.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 502)
  AUTHORS   Li Y, You C, Liu Z, He F, Zhao F, Song X, Xie Z, Wei S, Yang Y, Wei
            H, Che F and Yu J.
  TITLE     CYP2C8 and CYP2J2 gene variations increase the risk of hypertensive
            intracerebral hemorrhage
  JOURNAL   J Stroke Cerebrovasc Dis 32 (3), 106974 (2023)
   PUBMED   36587509
  REMARK    GeneRIF: CYP2C8 and CYP2J2 gene variations increase the risk of
            hypertensive intracerebral hemorrhage.
REFERENCE   2  (residues 1 to 502)
  AUTHORS   Zhao B, Huang J, Lou X, Yao K, Ye M, Mou Q, Wen Z, Duan Q, Zhang H
            and Zhao Y.
  TITLE     Endothelial CYP2J2 overexpression restores the BRB via
            METTL3-mediated ANXA1 upregulation
  JOURNAL   FASEB J 36 (11), e22619 (2022)
   PUBMED   36269280
  REMARK    GeneRIF: Endothelial CYP2J2 overexpression restores the BRB via
            METTL3-mediated ANXA1 upregulation.
REFERENCE   3  (residues 1 to 502)
  AUTHORS   Ding Y, Tu P, Chen Y, Huang Y, Pan X and Chen W.
  TITLE     CYP2J2 and EETs protect against pulmonary arterial hypertension
            with lung ischemia-reperfusion injury in vivo and in vitro
  JOURNAL   Respir Res 22 (1), 291 (2021)
   PUBMED   34774051
  REMARK    GeneRIF: CYP2J2 and EETs protect against pulmonary arterial
            hypertension with lung ischemia-reperfusion injury in vivo and in
            vitro.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 502)
  AUTHORS   Zou X and Mo Z.
  TITLE     CYP2J2 Is a Diagnostic and Prognostic Biomarker Associated with
            Immune Infiltration in Kidney Renal Clear Cell Carcinoma
  JOURNAL   Biomed Res Int 2021, 3771866 (2021)
   PUBMED   34258261
  REMARK    GeneRIF: CYP2J2 Is a Diagnostic and Prognostic Biomarker Associated
            with Immune Infiltration in Kidney Renal Clear Cell Carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 502)
  AUTHORS   Xu L and Chen LY.
  TITLE     Molecular determinant of substrate binding and specificity of
            cytochrome P450 2J2
  JOURNAL   Sci Rep 10 (1), 22267 (2020)
   PUBMED   33335233
  REMARK    GeneRIF: Molecular determinant of substrate binding and specificity
            of cytochrome P450 2J2.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 502)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert
            DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (residues 1 to 502)
  AUTHORS   Zeldin DC, Foley J, Goldsworthy SM, Cook ME, Boyle JE, Ma J, Moomaw
            CR, Tomer KB, Steenbergen C and Wu S.
  TITLE     CYP2J subfamily cytochrome P450s in the gastrointestinal tract:
            expression, localization, and potential functional significance
  JOURNAL   Mol Pharmacol 51 (6), 931-943 (1997)
   PUBMED   9187259
REFERENCE   8  (residues 1 to 502)
  AUTHORS   Zeldin DC, Foley J, Boyle JE, Moomaw CR, Tomer KB, Parker C,
            Steenbergen C and Wu S.
  TITLE     Predominant expression of an arachidonate epoxygenase in islets of
            Langerhans cells in human and rat pancreas
  JOURNAL   Endocrinology 138 (3), 1338-1346 (1997)
   PUBMED   9048644
REFERENCE   9  (residues 1 to 502)
  AUTHORS   Zeldin DC, Foley J, Ma J, Boyle JE, Pascual JM, Moomaw CR, Tomer
            KB, Steenbergen C and Wu S.
  TITLE     CYP2J subfamily P450s in the lung: expression, localization, and
            potential functional significance
  JOURNAL   Mol Pharmacol 50 (5), 1111-1117 (1996)
   PUBMED   8913342
REFERENCE   10 (residues 1 to 502)
  AUTHORS   Wu S, Moomaw CR, Tomer KB, Falck JR and Zeldin DC.
  TITLE     Molecular cloning and expression of CYP2J2, a human cytochrome P450
            arachidonic acid epoxygenase highly expressed in heart
  JOURNAL   J Biol Chem 271 (7), 3460-3468 (1996)
   PUBMED   8631948
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC032594.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 4, 2002 this sequence version replaced NP_000766.1.
            
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum and is thought
            to be the predominant enzyme responsible for epoxidation of
            endogenous arachidonic acid in cardiac tissue. Multiple transcript
            variants have been found for this gene. [provided by RefSeq, Jan
            2016].
            
            Transcript Variant: This variant (1) is the protein-coding
            transcript.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U37143.2, BC032594.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371204.4/ ENSP00000360247.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..502
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.1"
     Protein         1..502
                     /product="cytochrome P450 2J2"
                     /EC_number="5.4.4.7"
                     /EC_number="1.14.14.73"
                     /EC_number="1.14.14.74"
                     /note="microsomal monooxygenase; flavoprotein-linked
                     monooxygenase; cytochrome P450, subfamily IIJ (arachidonic
                     acid epoxygenase) polypeptide 2; cytochrome P450, family
                     2, subfamily J, polypeptide 2; albendazole monooxygenase
                     (hydroxylating); albendazole monooxygenase
                     (sulfoxide-forming); hydroperoxy icosatetraenoate
                     isomerase"
                     /calculated_mol_wt=57480
     Region          75..496
                     /region_name="CYP2J"
                     /note="cytochrome P450 family 2, subfamily J; cd20662"
                     /db_xref="CDD:410755"
     Site            order(111,126..127,134,138,308,311..312,315..316,319,370,
                     376,380,382,405,440..442,446,448..450,453..454)
                     /site_type="other"
                     /note="heme binding site [chemical binding]"
                     /db_xref="CDD:410755"
     Site            order(114,127..128,215,218..219,222,251,254..255,258,303,
                     306..307,310..311,315,376,380,487..488)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:410755"
     CDS             1..502
                     /gene="CYP2J2"
                     /gene_synonym="CPJ2; CYPIIJ2"
                     /coded_by="NM_000775.4:28..1536"
                     /db_xref="CCDS:CCDS613.1"
                     /db_xref="GeneID:1573"
                     /db_xref="HGNC:HGNC:2634"
                     /db_xref="MIM:601258"
ORIGIN      
        1 mlaamgslaa alwavvhprt lllgtvafll aadflkrrrp knyppgpwrl pflgnfflvd
       61 feqshlevql fvkkygnlfs lelgdisavl itglplikea lihmdqnfgn rpvtpmrehi
      121 fkknglimss gqawkeqrrf tltalrnfgl gkksleeriq eeaqhlteai keengqpfdp
      181 hfkinnavsn iicsitfger feyqdswfqq llklldevty leasktcqly nvfpwimkfl
      241 pgphqtlfsn wkklklfvsh midkhrkdwn paetrdfida ylkemskhtg nptssfheen
      301 licstldlff agtettsttl rwallymaly peiqekvqae idrvigqgqq pstaaresmp
      361 ytnavihevq rmgniiplnv prevtvdttl agyhlpkgtm iltnltalhr dptewatpdt
      421 fnpdhfleng qfkkreafmp fsigkraclg eqlartelfi fftslmqkft frppnnekls
      481 lkfrmgitis pvshrlcavp qv
//
LOCUS       NP_056117                633 aa            linear   PRI 26-FEB-2023
DEFINITION  HAUS augmin-like complex subunit 5 [Homo sapiens].
ACCESSION   NP_056117 XP_049237 XP_937266 XP_937287 XP_947397 XP_950983
            XP_950991
VERSION     NP_056117.1
DBSOURCE    REFSEQ: accession NM_015302.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 633)
  AUTHORS   Zhang W, Yang C, Hu Y, Yi K, Xiao W, Xu X and Chen Z.
  TITLE     Comprehensive analysis of the correlation of the pan-cancer gene
            HAUS5 with prognosis and immune infiltration in liver cancer
  JOURNAL   Sci Rep 13 (1), 2409 (2023)
   PUBMED   36765148
  REMARK    GeneRIF: Comprehensive analysis of the correlation of the
            pan-cancer gene HAUS5 with prognosis and immune infiltration in
            liver cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 633)
  AUTHORS   Luo J, Yang B, Xin G, Sun M, Zhang B, Guo X, Jiang Q and Zhang C.
  TITLE     The microtubule-associated protein EML3 regulates mitotic spindle
            assembly by recruiting the Augmin complex to spindle microtubules
  JOURNAL   J Biol Chem 294 (14), 5643-5656 (2019)
   PUBMED   30723163
REFERENCE   3  (residues 1 to 633)
  AUTHORS   Ding Y, Herman JA, Toledo CM, Lang JM, Corrin P, Girard EJ, Basom
            R, Delrow JJ, Olson JM and Paddison PJ.
  TITLE     ZNF131 suppresses centrosome fragmentation in glioblastoma
            stem-like cells through regulation of HAUS5
  JOURNAL   Oncotarget 8 (30), 48545-48562 (2017)
   PUBMED   28596487
  REMARK    GeneRIF: Our results suggest that GSCs differentially rely on
            ZNF131-dependent expression of HAUS5 as well as the Augmin/HAUS
            complex activity to maintain the integrity of centrosome function
            and viability.
REFERENCE   4  (residues 1 to 633)
  AUTHORS   Jakobsen L, Vanselow K, Skogs M, Toyoda Y, Lundberg E, Poser I,
            Falkenby LG, Bennetzen M, Westendorf J, Nigg EA, Uhlen M, Hyman AA
            and Andersen JS.
  TITLE     Novel asymmetrically localizing components of human centrosomes
            identified by complementary proteomics methods
  JOURNAL   EMBO J 30 (8), 1520-1535 (2011)
   PUBMED   21399614
REFERENCE   5  (residues 1 to 633)
  AUTHORS   Hutchins JR, Toyoda Y, Hegemann B, Poser I, Heriche JK, Sykora MM,
            Augsburg M, Hudecz O, Buschhorn BA, Bulkescher J, Conrad C,
            Comartin D, Schleiffer A, Sarov M, Pozniakovsky A, Slabicki MM,
            Schloissnig S, Steinmacher I, Leuschner M, Ssykor A, Lawo S,
            Pelletier L, Stark H, Nasmyth K, Ellenberg J, Durbin R, Buchholz F,
            Mechtler K, Hyman AA and Peters JM.
  TITLE     Systematic analysis of human protein complexes identifies
            chromosome segregation proteins
  JOURNAL   Science 328 (5978), 593-599 (2010)
   PUBMED   20360068
REFERENCE   6  (residues 1 to 633)
  AUTHORS   Lawo S, Bashkurov M, Mullin M, Ferreria MG, Kittler R, Habermann B,
            Tagliaferro A, Poser I, Hutchins JR, Hegemann B, Pinchev D,
            Buchholz F, Peters JM, Hyman AA, Gingras AC and Pelletier L.
  TITLE     HAUS, the 8-subunit human Augmin complex, regulates centrosome and
            spindle integrity
  JOURNAL   Curr Biol 19 (10), 816-826 (2009)
   PUBMED   19427217
REFERENCE   7  (residues 1 to 633)
  AUTHORS   Uehara R, Nozawa RS, Tomioka A, Petry S, Vale RD, Obuse C and
            Goshima G.
  TITLE     The augmin complex plays a critical role in spindle microtubule
            generation for mitotic progression and cytokinesis in human cells
  JOURNAL   Proc Natl Acad Sci U S A 106 (17), 6998-7003 (2009)
   PUBMED   19369198
REFERENCE   8  (residues 1 to 633)
  AUTHORS   Goshima G, Mayer M, Zhang N, Stuurman N and Vale RD.
  TITLE     Augmin: a protein complex required for centrosome-independent
            microtubule generation within the spindle
  JOURNAL   J Cell Biol 181 (3), 421-429 (2008)
   PUBMED   18443220
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC002115.1, BC064390.1 and AB020648.1.
            On or before Jun 29, 2007 this sequence version replaced
            XP_937287.1, XP_049237.2, XP_937266.1, XP_947397.1, XP_950991.1,
            XP_950983.1.
            
            Summary: HAUS5 is 1 of 8 subunits of the 390-kD human augmin
            complex, or HAUS complex. The augmin complex was first identified
            in Drosophila, and its name comes from the Latin verb 'augmentare,'
            meaning 'to increase.' The augmin complex is a microtubule-binding
            complex involved in microtubule generation within the mitotic
            spindle and is vital to mitotic spindle assembly (Goshima et al.,
            2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed
            19369198]).[supplied by OMIM, Jun 2010].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.78718.1, AB020648.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000203166.10/ ENSP00000439056.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..633
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     Protein         1..633
                     /product="HAUS augmin-like complex subunit 5"
                     /calculated_mol_wt=71552
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O94927.2)"
     Region          7..619
                     /region_name="HAUS5"
                     /note="HAUS augmin-like complex subunit 5; pfam14817"
                     /db_xref="CDD:434237"
     Site            71
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94927.2)"
     Region          264..286
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94927.2)"
     CDS             1..633
                     /gene="HAUS5"
                     /gene_synonym="dgt5; KIAA0841"
                     /coded_by="NM_015302.2:61..1962"
                     /db_xref="CCDS:CCDS42550.1"
                     /db_xref="GeneID:23354"
                     /db_xref="HGNC:HGNC:29130"
                     /db_xref="MIM:613432"
ORIGIN      
        1 melaqearel gcwaveemgv pvaarapest lrrlclgqga diwayilqhv hsqrtvkkir
       61 gnllwyghqd spqvrrklel eaavtrlrae iqeldqslel merdteaqdt ameqarqhtq
      121 dtqrralllr aqagamrrqq htlrdpmqrl qnqlrrlqdm erkakvdvtf gsltsaalgl
      181 epvvlrdvrt actlraqflq nlllpqakrg slptphddhf gtsyqqwlss vetlltnhpp
      241 ghvlaalehl aaereaeirs lcsgdglgdt eisrpqapdq sdssqtlpsm vhliqegwrt
      301 vgvlvsqrst llkerqvltq rlqglveeve rrvlgsserq vlilglrrcc lwtelkalhd
      361 qsqelqdaag hrqlllrelq akqqrilhwr qlveetqeqv rllikgnsas ktrlcrspge
      421 vlalvqrkvv ptfeavapqs rellrcleee vrhlphillg tllrhrpgel kplptvlpsi
      481 hqlhpasprg ssfialshkl glppgkasel llpaaaslrq dllllqdqrs lwcwdllhmk
      541 tslppglptq ellqiqasqe kqqkenlgqa lkrlekllkq aleripelqg ivgdwweqpg
      601 qaalseelcq glslpqwrlr wvqaqgalqk lcs
//
LOCUS       NP_004322                219 aa            linear   PRI 12-MAR-2023
DEFINITION  BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like
            isoform 1 [Homo sapiens].
ACCESSION   NP_004322
VERSION     NP_004322.1
DBSOURCE    REFSEQ: accession NM_004331.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 219)
  AUTHORS   Gok MO, Connor OM, Wang X, Menezes CJ, Llamas CB, Mishra P and
            Friedman JR.
  TITLE     The outer mitochondrial membrane protein TMEM11 demarcates
            spatially restricted BNIP3/BNIP3L-mediated mitophagy
  JOURNAL   J Cell Biol 222 (4) (2023)
   PUBMED   36795401
  REMARK    GeneRIF: The outer mitochondrial membrane protein TMEM11 demarcates
            spatially restricted BNIP3/BNIP3L-mediated mitophagy.
REFERENCE   2  (residues 1 to 219)
  AUTHORS   Huang CF, Hsieh YH, Yang SF, Kuo CH, Wang PH, Liu CJ and Lin RC.
  TITLE     Mitophagy Effects of Protodioscin on Human Osteosarcoma Cells by
            Inhibition of p38MAPK Targeting NIX/LC3 Axis
  JOURNAL   Cells 12 (3), 395 (2023)
   PUBMED   36766737
  REMARK    GeneRIF: Mitophagy Effects of Protodioscin on Human Osteosarcoma
            Cells by Inhibition of p38MAPK Targeting NIX/LC3 Axis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 219)
  AUTHORS   Field JT and Gordon JW.
  TITLE     BNIP3 and Nix: Atypical regulators of cell fate
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1869 (10), 119325 (2022)
   PUBMED   35863652
  REMARK    GeneRIF: BNIP3 and Nix: Atypical regulators of cell fate.
            Review article
REFERENCE   4  (residues 1 to 219)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   5  (residues 1 to 219)
  AUTHORS   Li X, Hou P, Ma W, Wang X, Wang H, Yu Z, Chang H, Wang T, Jin S,
            Wang X, Wang W, Zhao Y, Zhao Y, Xu C, Ma X, Gao Y and He H.
  TITLE     SARS-CoV-2 ORF10 suppresses the antiviral innate immune response by
            degrading MAVS through mitophagy
  JOURNAL   Cell Mol Immunol 19 (1), 67-78 (2022)
   PUBMED   34845370
REFERENCE   6  (residues 1 to 219)
  AUTHORS   Gubin AN, Njoroge JM, Bouffard GG and Miller JL.
  TITLE     Gene expression in proliferating human erythroid cells
  JOURNAL   Genomics 59 (2), 168-177 (1999)
   PUBMED   10409428
REFERENCE   7  (residues 1 to 219)
  AUTHORS   Ohi N, Tokunaga A, Tsunoda H, Nakano K, Haraguchi K, Oda K,
            Motoyama N and Nakajima T.
  TITLE     A novel adenovirus E1B19K-binding protein B5 inhibits apoptosis
            induced by Nip3 by forming a heterodimer through the C-terminal
            hydrophobic region
  JOURNAL   Cell Death Differ 6 (4), 314-325 (1999)
   PUBMED   10381623
REFERENCE   8  (residues 1 to 219)
  AUTHORS   Yasuda M, Han JW, Dionne CA, Boyd JM and Chinnadurai G.
  TITLE     BNIP3alpha: a human homolog of mitochondrial proapoptotic protein
            BNIP3
  JOURNAL   Cancer Res 59 (3), 533-537 (1999)
   PUBMED   9973195
REFERENCE   9  (residues 1 to 219)
  AUTHORS   Chen G, Cizeau J, Vande Velde C, Park JH, Bozek G, Bolton J, Shi L,
            Dubik D and Greenberg A.
  TITLE     Nix and Nip3 form a subfamily of pro-apoptotic mitochondrial
            proteins
  JOURNAL   J Biol Chem 274 (1), 7-10 (1999)
   PUBMED   9867803
REFERENCE   10 (residues 1 to 219)
  AUTHORS   Matsushima M, Fujiwara T, Takahashi E, Minaguchi T, Eguchi Y,
            Tsujimoto Y, Suzumori K and Nakamura Y.
  TITLE     Isolation, mapping, and functional analysis of a novel human cDNA
            (BNIP3L) encoding a protein homologous to human NIP3
  JOURNAL   Genes Chromosomes Cancer 21 (3), 230-235 (1998)
   PUBMED   9523198
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD558918.1, AB004788.1,
            AF536326.1, AL132665.1, CD244492.1, BF337139.1, BQ719112.1 and
            AA946755.1.
            
            Summary: This gene encodes a protein that belongs to the
            pro-apoptotic subfamily within the Bcl-2 family of proteins. The
            encoded protein binds to Bcl-2 and possesses the BH3 domain. The
            protein directly targets mitochondria and causes apoptotic changes,
            including loss of membrane potential and the release of cytochrome
            c. [provided by RefSeq, Feb 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.143872.1,
                                           SRR1803615.247639.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380629.7/ ENSP00000370003.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..219
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.2"
     Protein         1..219
                     /product="BCL2/adenovirus E1B 19 kDa protein-interacting
                     protein 3-like isoform 1"
                     /note="BCL2/adenovirus E1B 19-kd protein-interacting
                     protein 3a; BCL2/adenovirus E1B 19 kDa protein-interacting
                     protein 3-like; BCL2/adenovirus E1B 19kDa interacting
                     protein 3 like; adenovirus E1B19k-binding protein B5;
                     NIP3L; NIP3-like protein X; BCL2/adenovirus E1B 19 kDa
                     protein-interacting protein 3A; NIP-3-like protein X"
                     /calculated_mol_wt=23799
     Region          1..101
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60238.1)"
     Region          28..218
                     /region_name="BNIP3"
                     /note="pfam06553"
                     /db_xref="CDD:429001"
     Site            62
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60238.1)"
     Site            117
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z2F7; propagated from
                     UniProtKB/Swiss-Prot (O60238.1)"
     Site            118
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60238.1)"
     Site            120
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60238.1)"
     Region          126..148
                     /region_name="BH3"
                     /note="propagated from UniProtKB/Swiss-Prot (O60238.1)"
     Site            166
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O60238.1)"
     Site            188..208
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60238.1)"
     CDS             1..219
                     /gene="BNIP3L"
                     /gene_synonym="BNIP3a; NIX"
                     /coded_by="NM_004331.3:78..737"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS6050.1"
                     /db_xref="GeneID:665"
                     /db_xref="HGNC:HGNC:1085"
                     /db_xref="MIM:605368"
ORIGIN      
        1 msshlveppp plhnnnnnce eneqslpppa glnsswvelp mnssngndng ngkngglehv
       61 pssssihngd mekilldaqh esgqsssrgs shcdspspqe dgqimfdvem htsrdhssqs
      121 eeevvegeke vealkksadw vsdwssrpen ippkefhfrh pkrsvslsmr ksgamkkggi
      181 fsaeflkvfi pslflshvla lglgiyigkr lstpsasty
//
LOCUS       NP_001358010             317 aa            linear   PRI 18-MAR-2023
DEFINITION  platelet glycoprotein 4 isoform 6 [Homo sapiens].
ACCESSION   NP_001358010
VERSION     NP_001358010.1
DBSOURCE    REFSEQ: accession NM_001371081.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 317)
  AUTHORS   Bobinski R, Dutka M, Pizon M, Waksmanska W and Pielesz A.
  TITLE     Ferroptosis, Acyl Starvation, and Breast Cancer
  JOURNAL   Mol Pharmacol 103 (3), 132-144 (2023)
   PUBMED   36750321
  REMARK    GeneRIF: Ferroptosis, Acyl Starvation, and Breast Cancer.
            Review article
REFERENCE   2  (residues 1 to 317)
  AUTHORS   Gadagkar SG, Lalancette-Hebert M, Thammisetty SS, Vexler ZS and
            Kriz J.
  TITLE     CD36 neutralisation blunts TLR2-IRF7 but not IRF3 pathway in
            neonatal mouse brain and immature human microglia following innate
            immune challenge
  JOURNAL   Sci Rep 13 (1), 2304 (2023)
   PUBMED   36759676
  REMARK    GeneRIF: CD36 neutralisation blunts TLR2-IRF7 but not IRF3 pathway
            in neonatal mouse brain and immature human microglia following
            innate immune challenge.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 317)
  AUTHORS   Liao M, Li Y, Xiao A, Lu Q, Zeng H, Qin H, Zheng E, Luo X, Chen L,
            Ruan XZ, Yang P and Chen Y.
  TITLE     HIF-2alpha-induced upregulation of CD36 promotes the development of
            ccRCC
  JOURNAL   Exp Cell Res 421 (2), 113389 (2022)
   PUBMED   36252650
  REMARK    GeneRIF: HIF-2alpha-induced upregulation of CD36 promotes the
            development of ccRCC.
REFERENCE   4  (residues 1 to 317)
  AUTHORS   Liao X, Yan S, Li J, Jiang C, Huang S, Liu S, Zou X, Zhang G, Zou J
            and Liu Q.
  TITLE     CD36 and Its Role in Regulating the Tumor Microenvironment
  JOURNAL   Curr Oncol 29 (11), 8133-8145 (2022)
   PUBMED   36354702
  REMARK    GeneRIF: CD36 and Its Role in Regulating the Tumor
            Microenvironment.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 317)
  AUTHORS   Jabbari K, Cheng Q, Winkelmaier G, Furuta S and Parvin B.
  TITLE     CD36+ Fibroblasts Secrete Protein Ligands That Growth-Suppress
            Triple-Negative Breast Cancer Cells While Elevating Adipogenic
            Markers for a Model of Cancer-Associated Fibroblast
  JOURNAL   Int J Mol Sci 23 (21), 12744 (2022)
   PUBMED   36361532
  REMARK    GeneRIF: CD36(+) Fibroblasts Secrete Protein Ligands That
            Growth-Suppress Triple-Negative Breast Cancer Cells While Elevating
            Adipogenic Markers for a Model of Cancer-Associated Fibroblast.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 317)
  AUTHORS   Griffin E, Re A, Hamel N, Fu C, Bush H, McCaffrey T and Asch AS.
  TITLE     A link between diabetes and atherosclerosis: Glucose regulates
            expression of CD36 at the level of translation
  JOURNAL   Nat Med 7 (7), 840-846 (2001)
   PUBMED   11433350
REFERENCE   7  (residues 1 to 317)
  AUTHORS   Siddiqui FA and Lian EC.
  TITLE     Platelet-agglutinating protein p37 from a thrombotic
            thrombocytopenic purpura plasma forms complexes with platelet
            membrane glycoprotein IV (CD36)
  JOURNAL   Biochem Int 27 (3), 485-496 (1992)
   PUBMED   1384492
REFERENCE   8  (residues 1 to 317)
  AUTHORS   Huang MM, Bolen JB, Barnwell JW, Shattil SJ and Brugge JS.
  TITLE     Membrane glycoprotein IV (CD36) is physically associated with the
            Fyn, Lyn, and Yes protein-tyrosine kinases in human platelets
  JOURNAL   Proc Natl Acad Sci U S A 88 (17), 7844-7848 (1991)
   PUBMED   1715582
REFERENCE   9  (residues 1 to 317)
  AUTHORS   Tandon NN, Kralisz U and Jamieson GA.
  TITLE     Identification of glycoprotein IV (CD36) as a primary receptor for
            platelet-collagen adhesion
  JOURNAL   J Biol Chem 264 (13), 7576-7583 (1989)
   PUBMED   2468670
REFERENCE   10 (residues 1 to 317)
  AUTHORS   Tandon NN, Lipsky RH, Burgess WH and Jamieson GA.
  TITLE     Isolation and characterization of platelet glycoprotein IV (CD36)
  JOURNAL   J Biol Chem 264 (13), 7570-7575 (1989)
   PUBMED   2468669
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073182.4 and AC073850.4.
            
            Summary: The protein encoded by this gene is the fourth major
            glycoprotein of the platelet surface and serves as a receptor for
            thrombospondin in platelets and various cell lines. Since
            thrombospondins are widely distributed proteins involved in a
            variety of adhesive processes, this protein may have important
            functions as a cell adhesion molecule. It binds to collagen,
            thrombospondin, anionic phospholipids and oxidized LDL. It directly
            mediates cytoadherence of Plasmodium falciparum parasitized
            erythrocytes and it binds long chain fatty acids and may function
            in the transport and/or as a regulator of fatty acid transport.
            Mutations in this gene cause platelet glycoprotein deficiency.
            Multiple alternatively spliced transcript variants have been found
            for this gene. [provided by RefSeq, Feb 2014].
            
            Transcript Variant: This variant (16), as well as variant 15,
            encodes isoform 6.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.76967.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142363
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..317
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.11"
     Protein         1..317
                     /product="platelet glycoprotein 4 isoform 6"
                     /note="cluster determinant 36; fatty acid translocase;
                     CD36 molecule (thrombospondin receptor); scavenger
                     receptor class B, member 3; CD36 antigen (collagen type I
                     receptor, thrombospondin receptor); glycoprotein IIIb;
                     platelet glycoprotein IV; leukocyte differentiation
                     antigen CD36; PAS-4 protein; platelet glycoprotein 4;
                     GPIIIB; PAS IV"
                     /calculated_mol_wt=35823
     Region          <2..308
                     /region_name="CD36"
                     /note="CD36 family; pfam01130"
                     /db_xref="CDD:426068"
     CDS             1..317
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV;
                     PASIV; SCARB3"
                     /coded_by="NM_001371081.1:839..1792"
                     /note="isoform 6 is encoded by transcript variant 16"
                     /db_xref="GeneID:948"
                     /db_xref="HGNC:HGNC:1663"
                     /db_xref="MIM:173510"
ORIGIN      
        1 milnslinks kssmfqvrtl rellwgyrdp flslvpypvt ttvglfypyn ntadgvykvf
       61 ngkdniskva iidtykgkrn lsyweshcdm ingtdaasfp pfveksqvlq ffssdicrsi
      121 yavfesdvnl kgipvyrfvl pskafaspve npdnycfcte kiisknctsy gvldiskcke
      181 grpvyislph flyaspdvse pidglnpnee ehrtyldiep itgftlqfak rlqvnllvkp
      241 sekiqvlknl krnyivpilw lnetgtigde kanmfrsqvt gkinllglie millsvgvvm
      301 fvafmisyca crsktik
//
LOCUS       NP_796377                199 aa            linear   PRI 19-MAR-2023
DEFINITION  ras-related protein Rab-7b isoform a [Homo sapiens].
ACCESSION   NP_796377 NP_116158 XP_499588
VERSION     NP_796377.3
DBSOURCE    REFSEQ: accession NM_177403.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 199)
  AUTHORS   Cain RJ, Scortti M, Monzo HJ and Vazquez-Boland JA.
  TITLE     Listeria InlB Expedites Vacuole Escape and Intracellular
            Proliferation by Promoting Rab7 Recruitment via Vps34
  JOURNAL   mBio 14 (1), e0322122 (2023)
   PUBMED   36656016
  REMARK    GeneRIF: Listeria InlB Expedites Vacuole Escape and Intracellular
            Proliferation by Promoting Rab7 Recruitment via Vps34.
REFERENCE   2  (residues 1 to 199)
  AUTHORS   Vestre K, Persiconi I, Borg Distefano M, Mensali N, Guadagno NA,
            Bretou M, Walchli S, Arnold-Schrauf C, Bakke O, Dalod M,
            Lennon-Dumenil AM and Progida C.
  TITLE     Rab7b regulates dendritic cell migration by linking lysosomes to
            the actomyosin cytoskeleton
  JOURNAL   J Cell Sci 134 (18) (2021)
   PUBMED   34494097
  REMARK    GeneRIF: Rab7b regulates dendritic cell migration by linking
            lysosomes to the actomyosin cytoskeleton.
REFERENCE   3  (residues 1 to 199)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 199)
  AUTHORS   Lafalla Manzano AF, Gil Lorenzo AF, Bocanegra V, Costantino VV,
            Cacciamani V, Benardon ME and Valles PG.
  TITLE     Rab7b participation on the TLR4 (Toll-like receptor) endocytic
            pathway in Shiga toxin-associated Hemolytic Uremic Syndrome (HUS)
  JOURNAL   Cytokine 121, 154732 (2019)
   PUBMED   31153054
  REMARK    GeneRIF: Rab7b participation on the TLR4 (Toll-like receptor)
            endocytic pathway in Shiga toxin-associated Hemolytic Uremic
            Syndrome (HUS).
REFERENCE   5  (residues 1 to 199)
  AUTHORS   Borg Distefano M, Hofstad Haugen L, Wang Y, Perdreau-Dahl H, Kjos
            I, Jia D, Morth JP, Neefjes J, Bakke O and Progida C.
  TITLE     TBC1D5 controls the GTPase cycle of Rab7b
  JOURNAL   J Cell Sci 131 (17) (2018)
   PUBMED   30111580
  REMARK    GeneRIF: TBC1D5 is a GAP for Rab7b in the control of endosomal
            transport to the trans-Golgi.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 199)
  AUTHORS   Progida C, Nielsen MS, Koster G, Bucci C and Bakke O.
  TITLE     Dynamics of Rab7b-dependent transport of sorting receptors
  JOURNAL   Traffic 13 (9), 1273-1285 (2012)
   PUBMED   22708738
  REMARK    GeneRIF: Rab7b is required for sortilin transport from endosomes to
            the TGN.
REFERENCE   7  (residues 1 to 199)
  AUTHORS   Seto S, Tsujimura K and Koide Y.
  TITLE     Rab GTPases regulating phagosome maturation are differentially
            recruited to mycobacterial phagosomes
  JOURNAL   Traffic 12 (4), 407-420 (2011)
   PUBMED   21255211
REFERENCE   8  (residues 1 to 199)
  AUTHORS   He D, Chen T, Yang M, Zhu X, Wang C, Cao X and Cai Z.
  TITLE     Small Rab GTPase Rab7b promotes megakaryocytic differentiation by
            enhancing IL-6 production and STAT3-GATA-1 association
  JOURNAL   J Mol Med (Berl) 89 (2), 137-150 (2011)
   PUBMED   20953574
  REMARK    GeneRIF: Rab7b may play important roles in megakaryopoiesis by
            activating NF-kappaB and promoting IL-6 production.
REFERENCE   9  (residues 1 to 199)
  AUTHORS   Progida C, Cogli L, Piro F, De Luca A, Bakke O and Bucci C.
  TITLE     Rab7b controls trafficking from endosomes to the TGN
  JOURNAL   J Cell Sci 123 (Pt 9), 1480-1491 (2010)
   PUBMED   20375062
  REMARK    GeneRIF: Rab7b is required for normal lysosome function, and, in
            particular, it is an essential factor for retrograde transport from
            endosomes to the trans-Golgi network.
REFERENCE   10 (residues 1 to 199)
  AUTHORS   Yang M, Chen T, Han C, Li N, Wan T and Cao X.
  TITLE     Rab7b, a novel lysosome-associated small GTPase, is involved in
            monocytic differentiation of human acute promyelocytic leukemia
            cells
  JOURNAL   Biochem Biophys Res Commun 318 (3), 792-799 (2004)
   PUBMED   15144907
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AUXG01000006.1.
            On Sep 1, 2009 this sequence version replaced NP_796377.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Both variants 1 and
            2 encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.63336.1,
                                           SRR1803617.122558.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..199
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     Protein         1..199
                     /product="ras-related protein Rab-7b isoform a"
                     /note="ras-related protein Rab-7b; Ras-related protein
                     Rab-7"
                     /calculated_mol_wt=22380
     Region          9..169
                     /region_name="Rab"
                     /note="Ras-related in brain (Rab) family of small
                     guanosine triphosphatases (GTPases); cd00154"
                     /db_xref="CDD:206640"
     Site            9..10
                     /site_type="other"
                     /note="Rab subfamily motif 1 (RabSF1)"
                     /db_xref="CDD:206640"
     Site            15..22
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206640"
     Site            order(17..23,33,40,66,124..125,127,153..155)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206640"
     Site            23..33
                     /site_type="other"
                     /note="Rab subfamily motif 2 (RabSF2)"
                     /db_xref="CDD:206640"
     Site            order(33,40..46)
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206640"
     Region          37..45
                     /region_name="Effector region. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96AH8.1)"
     Site            40
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206640"
     Site            order(41,43..45,60,62,69..70,73,77,82)
                     /site_type="active"
                     /note="effector interaction site [active]"
                     /db_xref="CDD:206640"
     Site            order(41..42,44,62..63,70,74..76)
                     /site_type="active"
                     /note="GDI interaction site [active]"
                     /db_xref="CDD:206640"
     Site            41..45
                     /site_type="other"
                     /note="Rab family motif 1 (RabF1)"
                     /db_xref="CDD:206640"
     Site            order(42..49,56,58)
                     /site_type="other"
                     /note="GEF interaction site [polypeptide binding]"
                     /db_xref="CDD:206640"
     Site            58..62
                     /site_type="other"
                     /note="Rab family motif 2 (RabF2)"
                     /db_xref="CDD:206640"
     Site            63..66
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206640"
     Site            order(66,68..71,73..78)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206640"
     Site            order(69..71,73..74)
                     /site_type="other"
                     /note="Rab family motif 3 (RabF3)"
                     /db_xref="CDD:206640"
     Site            77..78
                     /site_type="other"
                     /note="Rab family motif 4 (RabF4)"
                     /db_xref="CDD:206640"
     Site            86..91
                     /site_type="other"
                     /note="Rab family motif 5 (RabF5)"
                     /db_xref="CDD:206640"
     Site            117..121
                     /site_type="other"
                     /note="Rab subfamily motif 3 (RabSF3)"
                     /db_xref="CDD:206640"
     Site            124..127
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206640"
     Site            153..155
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206640"
     Site            169
                     /site_type="other"
                     /note="Rab subfamily motif 4 (RabSF4)"
                     /db_xref="CDD:206640"
     Site            186
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VEA8; propagated from
                     UniProtKB/Swiss-Prot (Q96AH8.1)"
     CDS             1..199
                     /gene="RAB7B"
                     /gene_synonym="RAB7"
                     /coded_by="NM_177403.6:323..922"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS73011.1"
                     /db_xref="GeneID:338382"
                     /db_xref="HGNC:HGNC:30513"
ORIGIN      
        1 mnprkkvdlk liivgaigvg ktsllhqyvh ktfyeeyqtt lgasilskii ilgdttlklq
       61 iwdtggqerf rsmvstfykg sdgcilafdv tdlesfeald iwrgdvlaki vpmeqsypmv
      121 llgnkidlad rkvpqevaqg wcrekdipyf evsakndinv vqafemlasr alsryqsile
      181 nhltesikls pdqsrsrcc
//
LOCUS       XP_047304356             698 aa            linear   PRI 20-MAR-2023
DEFINITION  FYN-binding protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_047304356
VERSION     XP_047304356.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448400.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..698
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..698
                     /product="FYN-binding protein 2 isoform X3"
                     /calculated_mol_wt=78589
     Region          623..>689
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:450141"
     Site            order(643,645,648,652,670..671,685,687..688)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212690"
     CDS             1..698
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
                     /coded_by="XM_047448400.1:115..2211"
                     /db_xref="GeneID:199920"
                     /db_xref="HGNC:HGNC:27295"
                     /db_xref="MIM:618478"
ORIGIN      
        1 megegvrnfk elrakfqnld applpgpikf pagvspkgdi ggtqstqila ngkplssnhk
       61 qrtpycssse sqplqpqkik laqkseipkc snspgplgks tvcsatssqk aslllevtqs
      121 nveiitkekv mvansfrnkl wnwekvssqk semssallla nygskaihle gqkgmgltpe
      181 eprkkletkg aqtlpsqkhv vapkilhnvs edpsfvisqh irkswenppp erspasspcq
      241 piyecelasq apekqpdvrh hhlpktkplp sidslgpppp kpsrppivnl qafqrqpaav
      301 pktqgevtve egslsperlf naefeephny eatisylrhs gnsinlctak eiadptyevg
      361 ieelqkpgkn fpypepsakh edkkmkekqp celkpkntek epysnhvfkv dacegtpeki
      421 qmtnvhtgrr nmlagkqeam idiiqtnpcp egpklarhsq ghcghlevle stketpdlgv
      481 sktssiseei yddveysrke vpklnysssl assseenrel yedvyktknn ypkidldgke
      541 alkrlqqffk kekdrfkikk tkskenlrde dklkmwkpkf ltpkekkekn gaeesesfsp
      601 rnffktkkqn leknrmkree klfrerfkyd keiivintav acsnnsrngi fdlpispgee
      661 levidtteqn lvicrnskgk ygyvliehld fkhqswsp
//
LOCUS       XP_047280913            1148 aa            linear   PRI 20-MAR-2023
DEFINITION  WASH complex subunit 2C isoform X22 [Homo sapiens].
ACCESSION   XP_047280913
VERSION     XP_047280913.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424957.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1148
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1148
                     /product="WASH complex subunit 2C isoform X22"
                     /calculated_mol_wt=124741
     Region          <396..623
                     /region_name="PTZ00108"
                     /note="DNA topoisomerase 2-like protein; Provisional"
                     /db_xref="CDD:240271"
     Region          750..887
                     /region_name="CAP-ZIP_m"
                     /note="WASH complex subunit CAP-Z interacting, central
                     region; pfam15255"
                     /db_xref="CDD:434577"
     CDS             1..1148
                     /gene="WASHC2C"
                     /gene_synonym="FAM21A; FAM21C; VPEF"
                     /coded_by="XM_047424957.1:308..3754"
                     /db_xref="GeneID:253725"
                     /db_xref="HGNC:HGNC:23414"
                     /db_xref="MIM:613631"
ORIGIN      
        1 meqedvglge lsseegsvgs drgsivdtee ekeeeesded fahhsdneqn qhttqmsdee
       61 edddgcdlfa dsekeeedie dieentrpkr srptsfadel aarikgdamg rvdeepttlp
      121 sgeakprktl kekkerrtps ddeednlfap pkltdedfsp fgsggglfsg gkglfddede
      181 esdlfteasq drqagasvke esssskpgkk ipagavsvfl gdtdvfgaas vpslkepqkp
      241 eqptprkspy gppptglfdd ddgdddddff saphskpskt rkvqstadif gdeegdlfke
      301 kavaspeatv sqtdenkara ekkvtlsysk nlkpssetkt qkglfsdeed sedlfssqsa
      361 snlkgasllp gklptsvslf ddedeednlf ggtaakkqtl slqaqreeka kaselskkka
      421 sallfssdee dqwnipasqt hlasdsrskg eprdsgtlqs qeakavkkts lfeedkeddl
      481 faiakdsqkk tqrvsllfed dvdsggslfg spptsvppat kkketvseap pllfsdeeek
      541 eaqlgvksvd kkvesakesl kfgrtdvaes ekeglltrsa qetvkhsdlf sssspwdkgt
      601 kprtktvlsl fdeeedkmed qniiqapqke vgkgcdpdah pkstgvfqde ellfshklqk
      661 dndpdvdlfa gtkktkllep svgslfgdde dddlfssaks qplvqekkrv vkkdhsvnsf
      721 knqkhpesiq gskekgiwkp etpqdssgla pfktkepstr igkiqanlai npaallptaa
      781 sqisevkpvl pelafpsseh rrshglesvp vlpgsgeagv sfdlpaqadt lhsanksrvk
      841 mrgkrrpqtr aarrlaaqes seaedmsvpr gpiaqwadga ispnghrpql raasgedste
      901 ealaaaaapw eggpvpgvdt spfakslghs rgeadlfdsg difstgtgsq svertkpkak
      961 iaenpanppv ggkakspmfp algeassddd lfqsakpkpa kktnpfplle deddlftdqk
     1021 vkknetksss qqdvilttqd ifeddifate aikpsqktre kektlesnlf ddnidifadl
     1081 tvkpkekskk kveaksifdd dmddifstgi qakttkpksr saqaapeprf ehkvsnifdd
     1141 plnafggq
//
LOCUS       XP_011517770             348 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-15 receptor subunit alpha isoform X8 [Homo sapiens].
ACCESSION   XP_011517770
VERSION     XP_011517770.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011519468.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..348
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..348
                     /product="interleukin-15 receptor subunit alpha isoform
                     X8"
                     /calculated_mol_wt=37389
     Region          142..203
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(152,169)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          <217..>323
                     /region_name="SP1-4_N"
                     /note="N-terminal domain of transcription factor
                     Specificity Proteins (SP) 1-4; cl41773"
                     /db_xref="CDD:425404"
     CDS             1..348
                     /gene="IL15RA"
                     /gene_synonym="CD215"
                     /coded_by="XM_011519468.2:294..1340"
                     /db_xref="GeneID:3601"
                     /db_xref="HGNC:HGNC:5978"
                     /db_xref="MIM:601070"
ORIGIN      
        1 mteawrclvl snvtarpenl hlgayrpgsq asletprkkk thqpkrrmaa wknlrkrgse
       61 wghrtectle vpehderggp ggsracvdar drlavlagrs risesfnhev qtheacvrlr
      121 tmencpqchh hrtsrqqagi tcpppmsveh adiwvksysl ysreryicns gfkrkagtss
      181 ltecvlnkat nvahwttpsl kcirdpalvh qrpappstvt tagvtpqpes lspsgkepaa
      241 sspssnntaa ttaaivpgsq lmpskspstg tteisshess hgtpsqttak nweltasash
      301 qppgvypqgh sdttvaists tvllcglsav sllacylkss gavlsysg
//
LOCUS       XP_047281569             383 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 1 isoform X5
            [Homo sapiens].
ACCESSION   XP_047281569
VERSION     XP_047281569.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425613.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..383
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..383
                     /product="pleckstrin homology domain-containing family A
                     member 1 isoform X5"
                     /calculated_mol_wt=43541
     CDS             1..383
                     /gene="PLEKHA1"
                     /gene_synonym="TAPP1"
                     /coded_by="XM_047425613.1:240..1391"
                     /db_xref="GeneID:59338"
                     /db_xref="HGNC:HGNC:14335"
                     /db_xref="MIM:607772"
ORIGIN      
        1 mpyvdrqnri cgfldieene nsgkflrryf ildtredsfv wymdnpqnlp sgssrvgaik
       61 ltyiskvsda tklrpkaefc fvmnagmrky flqandqqdl vewvnvlnka ikitvpkqsd
      121 sqpnsdnlsr hgecgkkqvs yrtdivggvp iitptqkeev necgesidrn nlkrsqshlp
      181 yftpkppqds avikagycvk qgavmknwkr ryfqldenti gyfkseleke plrviplkev
      241 hkvqeckqsd immrdnlfei vttsrtfyvq adspeemhsw ikavsgaiva qrgpgrsass
      301 mrqarrlsnp ciqrsippvl qnpntlsvlp tqpppphipq plaatlwsqp lpwrsedfts
      361 llprssqgts rsrlslqenq lpk
//
LOCUS       XP_024304137            1259 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 7 isoform X18
            [Homo sapiens].
ACCESSION   XP_024304137
VERSION     XP_024304137.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024448369.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1259
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1259
                     /product="pleckstrin homology domain-containing family A
                     member 7 isoform X18"
                     /calculated_mol_wt=142995
     Region          53..175
                     /region_name="PH_PEPP1_2_3"
                     /note="Phosphoinositol 3-phosphate binding proteins 1, 2,
                     and 3 pleckstrin homology (PH) domain; cd13248"
                     /db_xref="CDD:270068"
     Site            order(67,69..70,77,79,90,152)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:270068"
     Region          <592..>807
                     /region_name="Mplasa_alph_rch"
                     /note="helix-rich Mycoplasma protein; TIGR04523"
                     /db_xref="CDD:275316"
     Region          673..>773
                     /region_name="DUF1640"
                     /note="Protein of unknown function (DUF1640); pfam07798"
                     /db_xref="CDD:429663"
     CDS             1..1259
                     /gene="PLEKHA7"
                     /coded_by="XM_024448369.2:1328..5107"
                     /db_xref="GeneID:144100"
                     /db_xref="HGNC:HGNC:27049"
                     /db_xref="MIM:612686"
ORIGIN      
        1 mskqdrnqrp ssmvsetsta gtastleakp gpkiiksssk vhsfgkrdqa irrnpnvpvv
       61 vrgwlhkqds sgmrlwkrrw fvladyclfy ykdsreeavl gsiplpsyvi spvapedris
      121 rkysfkavht gmraliynss tagsqaeqsg mrtyyfsadt qedmnawvra mnqaaqvlsr
      181 sslkrdmekv erqavpqanh teschecgrv gpghtrdcph rghddivnfe rqeqegeqyr
      241 sqrdplegkr drskarspys paeedalfmd lptgprgqqa qpqraekngm lpasygpgeq
      301 ngtggyqraf pprtnpekhs qrksnlaqve hwaraqkgds rslpldqtlp rqgpgqslsf
      361 penyqtlpks trhpsggssp pprnlpsdyk yaqdrashlk msseerrahr dgtvwqlyew
      421 qqrqqfrhgs ptapiclgsp eftdqgrsrs mlevprsisv ppspsdippp gpprvfpprr
      481 phtpaervtv kppdqrrsvd islgdsprra rghavknssh vdrrsmpsmg ymthtvsaps
      541 lhgksleels llltrlrrhq aklasvrnfa isqllqhqlt fptcqaddty lqlkkdleyl
      601 dlkiknnepl invlykvlkk sargcrprrs mtgrdllkdr slkpvkiaes dtdvklsifc
      661 eqdrvlqdle dkiralkenk dqlesvlevl hrqmeqyrdq pqhlekiayq qkllqedlvh
      721 iraelsrest emenawneyl klendveqlk qtlqeqhrra fffqeksqiq kdlwriedvt
      781 aglsankenf rilvesvknp erktvplfph ppvpslstse skpppqpspp tspvrtplev
      841 rlfpqlqtyv pyrphppqlr kvtsplqspt kakpkvqede apprpplpel yspedqppav
      901 pplpreatii rhtsvrglkr qsderkrdre lgqcvngdsr velrsyvsep elatlsgdma
      961 qpslglvgpe sryqtlpgrg lsgstsrlqq sstiapyvtl rrglnaessk atfprpksal
     1021 erlysgdhqr gkmsaeeqle rmkrhqkalv rerkrtlgqg ertglpssry lsrplpgdlg
     1081 swkreqdfdl qllervvqge kkdkeengwl kvqampvtel dlepqdydld isrelskpek
     1141 vsiperyvel dpeeppslee lqaryrkaek irnilarssm cnlqptsgqd qnsvadldlq
     1201 lqeqeriini syalaseasq rskqvaaqql allppkgpls srtvppyppf tnglhytfv
//
LOCUS       XP_016873430             239 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 49 isoform X1 [Homo
            sapiens].
ACCESSION   XP_016873430
VERSION     XP_016873430.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017941.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..239
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..239
                     /product="ankyrin repeat domain-containing protein 49
                     isoform X1"
                     /calculated_mol_wt=27159
     Region          75..128
                     /region_name="Ank_4"
                     /note="Ankyrin repeats (many copies); pfam13637"
                     /db_xref="CDD:372654"
     Region          78..105
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(79..80,83..85,87..88,92,96,105,107,109,113..114,
                     117..119,121..122,126,129,138,140,142,146..147,150..152,
                     154..155,159,162)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          107..138
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          112..197
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          140..170
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..239
                     /gene="ANKRD49"
                     /gene_synonym="FGIF; GBIF"
                     /coded_by="XM_017017941.2:278..997"
                     /db_xref="GeneID:54851"
                     /db_xref="HGNC:HGNC:25970"
                     /db_xref="MIM:619571"
ORIGIN      
        1 mekekgnddg ipdqensldf sehfnqlell ethghliptg tqslwvgnsd edeeqddkne
       61 ewyrlqekkm ekdpsrlllw aaeknrlttv rrllsekath vntrdedeyt plhraaysgh
      121 ldivqeliaq gadvhavtvd gwtplhsack wnntrvasfl lqhdadinaq tkglltplhl
      181 aagnrdskdt lelllmnryv kpglknnlee tafdiarrts iyhylfeive gctnsspqs
//
LOCUS       XP_047285834            1490 aa            linear   PRI 20-MAR-2023
DEFINITION  protein SCAF11 isoform X2 [Homo sapiens].
ACCESSION   XP_047285834
VERSION     XP_047285834.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429878.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1490
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1490
                     /product="protein SCAF11 isoform X2"
                     /calculated_mol_wt=167557
     Region          103..154
                     /region_name="mRING-HC-C3HC3D_SCAF11"
                     /note="Modified RING finger, HC subclass (C3HC3D-type),
                     found in SR-related and CTD-associated factor 11 (SCAF11)
                     and similar proteins; cd16636"
                     /db_xref="CDD:438298"
     Region          822..>1073
                     /region_name="PRK12678"
                     /note="transcription termination factor Rho; Provisional"
                     /db_xref="CDD:237171"
     CDS             1..1490
                     /gene="SCAF11"
                     /gene_synonym="CASP11; SFRS2IP; SIP1; SRRP129; SRSF2IP"
                     /coded_by="XM_047429878.1:5..4477"
                     /db_xref="GeneID:9169"
                     /db_xref="HGNC:HGNC:10784"
                     /db_xref="MIM:603668"
ORIGIN      
        1 mqeggseavg rrgrgkvgrk lipgrrqggw raqharterg qatgkrvsar lkatgtwetl
       61 fqremkkktv ctlnmgdkky edmegeengd ntistgllys eadrcpicln cllekevgfp
      121 escnhvfcmt cilkwaetla scpidrkpfq avfkfsaleg yvkvqvkkql retkdkknen
      181 sfekqvsche nskscirrka ivredllsak vcdlkwihrn slysetggkk naaikinkpq
      241 rsnwstnqcf rnffsnmfss vshsgessft yrayctefie aseisalirq krhelelswf
      301 pdtlpgigri gfipwnvete vlplissvlp rtifptstis fehfgtsckg yalahtqege
      361 ekkqtsgtsn trgsrrkpam ttptrrstrn traetasqsq rspisdnsgc dapgnsnpsl
      421 svpssaesek qtrqapkrks vrrgrkppll kkklrssvaa peksssndsv deetaesdts
      481 pvlekehqpd vdssnictvq thvenqsanc lkscneqiee sekhtanydt eervgsssse
      541 scaqdlpvlv geegevkkle ntgieanvlc leseisenil ekggdplekq dqisglsqse
      601 vktdvctvhl pndfptclts eskvyqpvsc plsdlsenve svvneekite sslveitehk
      661 dftlkteeli espklesseg eiiqtvdrqs vkspevqllg hvetedveii atcdtfgned
      721 fnniqdsenn llknnllntk leksleekne sltehprste lpkthieqiq khfsednnem
      781 ipmecdsfcs dqneseveps vnadlkqmne nsvthcsenn mpssdladek vetvsqpses
      841 pkdtidktkk prtrrsrfhs psttwspnkd tpqekkrpqs psprretgke srksqspspk
      901 nesargrkks rsqspkkdia rerrqsqsrs pkrdttresr rseslsprre tsrenkrsqp
      961 rvkdsspgek srsqsreres drdgqrrere rrtrkwsrsr shsrspsrcr tksksssfgr
     1021 idrdsysprw kgrwandgwr cprgndryrk ndpekqnent rkekndihld addpnsadkh
     1081 rndcpnwite kinsgpdprt rnpeklkesh weenrnensg nswnknfgsg wvsnrgrgrg
     1141 nrgrgtyrss faykdqnenr wqnrkplsgn snssgsesfk fveqqsykrk seqefsfdtp
     1201 adrsgwtsas swavrktlpa dvqnyysrrg rnssgpqsgw mkqeeetsgq dsslkdqtnq
     1261 qvdgsqlpin mmqpqmnvmq qqmnaqhqpm nifpypvgvh aplmniqrnp fnihpqlplh
     1321 lhtgvplmqv atptsvsqgl ppppppppps qqvnyiasqp dgkqlqgips sshvsnnmst
     1381 pvlpaptaap gntgmvqgps sgntsssshs kasnaavkla eskvsvavea sadssktdkk
     1441 lqiqekaaqe vklaikpfyq nkditkeeyk eivrkavdkc vllecsiqkm
//
LOCUS       XP_011533470             702 aa            linear   PRI 20-MAR-2023
DEFINITION  conserved oligomeric Golgi complex subunit 6 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011533470
VERSION     XP_011533470.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011535168.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..702
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..702
                     /product="conserved oligomeric Golgi complex subunit 6
                     isoform X1"
                     /calculated_mol_wt=78238
     Region          68..701
                     /region_name="COG6"
                     /note="Conserved oligomeric complex COG6; smart01087"
                     /db_xref="CDD:215018"
     CDS             1..702
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /coded_by="XM_011535168.2:66..2174"
                     /db_xref="GeneID:57511"
                     /db_xref="HGNC:HGNC:18621"
                     /db_xref="MIM:606977"
ORIGIN      
        1 maegsgevva vsatgaangl nngaggtsat tcnplsrklh kiletrldnd kemlealkal
       61 stffvenslr trrnlrgdie rkslaineef vsifkevkee lesisedvqa msnccqdmts
      121 rlqaakeqtq dlivkttklq sesqkleira qvadaflskf qltsdemsll rgtregpite
      181 dffkalgrvk qihndvkvll rtnqqtagle imeqmallqe tayerlyrwa qsecrtltqe
      241 scdvspvltq amealqdrpv lykytldefg tarrstvvrg fidaltrggp ggtprpiemh
      301 shdplryvgd mlawlhqata sekehleall khvttqgvee niqevvghit egvcrplkvr
      361 ieqvivaepg avllykisnl lkfyhhtisg ivgnsatall ttieemhlls kkiffnslsl
      421 hasklmdkve lpppdlgpss alnqtlmllr evlashdssv vpldarqadf vqvlscvldp
      481 llqmctvsas nlgtadmatf mvnslymmkt tlalfeftdr rlemlqfqie ahldtlineq
      541 asyvltrvgl syiyntvqqh kpeqgslanm pnldsvtlka amvqfdryls apdnllipql
      601 nfllsatvkp sadwmepapl tvnllhsvfq ltcqspvetp sqthpeimly qltreqivkq
      661 stelvcrayg evyaavmnpi neykdpenil hrspqqvqtl ls
//
LOCUS       XP_047286591             234 aa            linear   PRI 20-MAR-2023
DEFINITION  dehydrogenase/reductase SDR family member 12 isoform X17 [Homo
            sapiens].
ACCESSION   XP_047286591
VERSION     XP_047286591.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430635.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..234
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..234
                     /product="dehydrogenase/reductase SDR family member 12
                     isoform X17"
                     /calculated_mol_wt=25681
     Region          40..>228
                     /region_name="NADB_Rossmann"
                     /note="Rossmann-fold NAD(P)(+)-binding proteins; cl21454"
                     /db_xref="CDD:451247"
     Site            order(147,204,224,228)
                     /site_type="active"
                     /db_xref="CDD:187535"
     CDS             1..234
                     /gene="DHRS12"
                     /gene_synonym="SDR40C1"
                     /coded_by="XM_047430635.1:55..759"
                     /db_xref="GeneID:79758"
                     /db_xref="HGNC:HGNC:25832"
                     /db_xref="MIM:616163"
ORIGIN      
        1 mslyrsvvwf akglreytks gyesackdfv phdlevqipg rvflvtggns gigkatalei
       61 akrggtvhlv crdqapaeda rgeiiresgn qniflhivdl sdpkqiwkfv enfkqehklh
      121 vlinnagcmv nkreltedgl eknfaantlg vyilttglip vlekehdprv qkglgscssv
      181 qglgmrsvsw siqitvssgg mlvqklntnd lqsertpfdg tmvyaqnktg msrs
//
LOCUS       XP_005254929            1122 aa            linear   PRI 20-MAR-2023
DEFINITION  A disintegrin and metalloproteinase with thrombospondin motifs 17
            isoform X5 [Homo sapiens].
ACCESSION   XP_005254929
VERSION     XP_005254929.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005254872.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1122
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1122
                     /product="A disintegrin and metalloproteinase with
                     thrombospondin motifs 17 isoform X5"
                     /calculated_mol_wt=123915
     Region          <81..180
                     /region_name="Pep_M12B_propep"
                     /note="Reprolysin family propeptide; pfam01562"
                     /db_xref="CDD:426325"
     Region          232..449
                     /region_name="ZnMc_ADAMTS_like"
                     /note="Zinc-dependent metalloprotease, ADAMTS_like
                     subgroup. ADAMs (A Disintegrin And Metalloprotease) are
                     glycoproteins, which play roles in cell signaling, cell
                     fusion, and cell-cell interactions. This particular
                     subfamily represents domain architectures that...;
                     cd04273"
                     /db_xref="CDD:239801"
     Site            order(389..390,393,399)
                     /site_type="active"
                     /db_xref="CDD:239801"
     Region          466..533
                     /region_name="ADAM_CR_2"
                     /note="ADAM cysteine-rich domain; pfam17771"
                     /db_xref="CDD:436031"
     Region          546..598
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          <630..699
                     /region_name="ADAM_CR_3"
                     /note="ADAM cysteine-rich domain; pfam19236"
                     /db_xref="CDD:437068"
     Region          701..810
                     /region_name="ADAM_spacer1"
                     /note="ADAM-TS Spacer 1; pfam05986"
                     /db_xref="CDD:428708"
     Region          836..888
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          892..948
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          952..994
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          1003..1050
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     CDS             1..1122
                     /gene="ADAMTS17"
                     /gene_synonym="WMS4"
                     /coded_by="XM_005254872.4:77..3445"
                     /db_xref="GeneID:170691"
                     /db_xref="HGNC:HGNC:17109"
                     /db_xref="MIM:607511"
ORIGIN      
        1 mcdgallppl vlpvllllvw gldpgtavgd aaadvevvlp wrvrpddvhl pplpaapgpr
       61 rrrrprtppa aprarpgera lllhlpafgr dlylqlrrdl rflsrgfeve eagaarrrgr
      121 paelcfysgr vlghpgslvs lsacgaaggl vgliqlgqeq vliqplnnsq gpfsgrehli
      181 rrkwsltpsp saeaqrpeql ckvltekkkp twgrpsrdwr errnairlts ehtvetlvva
      241 dadmvqyhga eaaqrfiltv mnmvynmfqh qslgikiniq vtklvllrqr paklsighhg
      301 erslesfchw qneeyggary lgnnqvpggk ddpplvdaav fvtrtdfcvh kdepcdtvgi
      361 aylggvcsak rkcvlaedng lnlaftiahe lghnlgmnhd ddhsscagrs himsgewvkg
      421 rnpsdlswss csrddlenfl kskvstcllv tdprsqhtvr lphklpgmhy saneqcqilf
      481 gmnatfcrnm ehlmcaglwc lvegdtsckt kldppldgte cgadkwcrag ecvsktpipe
      541 hvdgdwspwg awsmcsrtcg tgarfrqrkc dnpppgpggt hcpgasveha vcenlpcpkg
      601 lpsfrdqqcq ahdrlspkkk glltavvvdd kpcelycspl gkespllvad rvldgtpcgp
      661 yetdlcvhgk cqkigcdgii gsaakedrcg vcsgdgktch lvkgdfshar gtgyieaavi
      721 pagarrirvv edkpahsfla lkdsgkgsin sdwkielpge fqiagttvry vrrglwekis
      781 akgptklplh lmvllfhdqd ygihyeytvp vnrtaenqse pekpqdslfi wthsgwegcs
      841 vqcgggerrt ivsctrivnk tttlvndsdc pqasrpepqv rrcnlhpcqs rwvagpwspc
      901 satcekgfqh revtcvyqlq ngthvatrpl ycpgprpaav qscegqdcls iweasewsqc
      961 sascgkgvwk rtvactnsqg kcdastrpra eeacedysgc yewktgdwst csstcgkglq
     1021 srvvqcmhkv tgrhgsecpa lskpapyrqc yqevcndrin antitsprla altykctrdq
     1081 wtvycrvire knlcqdmrwy qrccqtcrdf yankmrqppp ns
//
LOCUS       XP_006720612             503 aa            linear   PRI 20-MAR-2023
DEFINITION  NT-3 growth factor receptor isoform X11 [Homo sapiens].
ACCESSION   XP_006720612
VERSION     XP_006720612.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006720549.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..503
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..503
                     /product="NT-3 growth factor receptor isoform X11"
                     /calculated_mol_wt=56111
     Region          31..>51
                     /region_name="LRRNT"
                     /note="Leucine rich repeat N-terminal domain; pfam01462"
                     /db_xref="CDD:396168"
     Region          103..160
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          105..128
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          129..151
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          152..164
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          163..208
                     /region_name="TPKR_C2"
                     /note="Tyrosine-protein kinase receptor C2 Ig-like domain;
                     pfam16920"
                     /db_xref="CDD:435654"
     Region          214..299
                     /region_name="ig"
                     /note="Immunoglobulin domain; pfam00047"
                     /db_xref="CDD:395002"
     Region          227..231
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          240..244
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          266..270
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          281..286
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          294..297
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          304..396
                     /region_name="IgI_TrKABC_d5"
                     /note="Fifth domain (immunoglobulin-like) of Trk receptors
                     TrkA, TrkB, and TrkC; member of the I-set of Ig
                     superfamily (IgSF) domains; cd04971"
                     /db_xref="CDD:409360"
     Region          305..311
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409360"
     Region          313..316
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409360"
     Region          319..327
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409360"
     Site            328
                     /site_type="other"
                     /note="interdomain interface [polypeptide binding]"
                     /db_xref="CDD:409360"
     Region          330..337
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409360"
     Region          340..343
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409360"
     Region          348..354
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409360"
     Site            order(353,366..367,370)
                     /site_type="other"
                     /note="receptor binding site [polypeptide binding]"
                     /db_xref="CDD:409360"
     Region          358..366
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409360"
     Region          374..382
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409360"
     Region          385..393
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409360"
     CDS             1..503
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /coded_by="XM_006720549.5:27..1538"
                     /db_xref="GeneID:4916"
                     /db_xref="HGNC:HGNC:8033"
                     /db_xref="MIM:191316"
ORIGIN      
        1 mdvslcpakc sfwrifllgs vwldyvgsvl acpancvcsk teincrrpdd gnlfpllegq
       61 dsgnsngnas initdisrni tsihienwrs lhtlnavdme lytglqklti knsglrsiqp
      121 rafaknphlr yinlssnrlt tlswqlfqtl slrelqleqn ffncscdirw mqlwqeqgea
      181 klnsqnlyci nadgsqlplf rmnisqcdlp eisvshvnlt vregdnavit cngsgsplpd
      241 vdwivtglqs inthqtnlnw tnvhainltl vnvtsedngf tltciaenvv gmsnasvalt
      301 vyypprvvsl eepelrlehc iefvvrgnpp ptlhwlhngq plreskiihv eyyqegeise
      361 gcllfnkpth ynngnytlia knplgtanqt inghflkepf pestdnfilf devsptppit
      421 vthkpeedtf gvsiavglaa facvllvvlf vminkygrrs kfgmkdglel lavllkcdsk
      481 qlknkegnkm knnngkkkra tsa
//
LOCUS       XP_006720788             222 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptosomal-associated protein 23 isoform X1 [Homo sapiens].
ACCESSION   XP_006720788
VERSION     XP_006720788.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006720725.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..222
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..222
                     /product="synaptosomal-associated protein 23 isoform X1"
                     /calculated_mol_wt=24528
     Region          9..75
                     /region_name="SNARE_SNAP23N"
                     /note="N-terminal SNARE motif of SNAP23; cd15895"
                     /db_xref="CDD:277248"
     Site            order(13,16..21,23..28,30..31,34..35,37..42,44..45,47..49,
                     51..56,58..59,61..63,65..66,68..70,72..73,75)
                     /site_type="other"
                     /note="heterotetramer interface [polypeptide binding]"
                     /db_xref="CDD:277248"
     Site            48
                     /site_type="active"
                     /note="zero layer [active]"
                     /db_xref="CDD:277248"
     Region          100..159
                     /region_name="SNAP-25"
                     /note="SNAP-25 family; pfam00835"
                     /db_xref="CDD:425896"
     Region          160..218
                     /region_name="SNARE_SNAP23C"
                     /note="C-terminal SNARE motif of SNAP23; cd15884"
                     /db_xref="CDD:277237"
     Site            order(160,162..163,166..171,173..174,177..178,180..182,
                     184..185,188..189,191..192,194..199,201..202,205,208,212,
                     215,218)
                     /site_type="other"
                     /note="heterotetramer interface [polypeptide binding]"
                     /db_xref="CDD:277237"
     Site            191
                     /site_type="other"
                     /note="zero layer"
                     /db_xref="CDD:277237"
     CDS             1..222
                     /gene="SNAP23"
                     /gene_synonym="HsT17016; SNAP-23; SNAP23A; SNAP23B"
                     /coded_by="XM_006720725.4:95..763"
                     /db_xref="GeneID:8773"
                     /db_xref="HGNC:HGNC:11131"
                     /db_xref="MIM:602534"
ORIGIN      
        1 mdnlsseeiq qrahqitdes lestrrilgl aiesqdagik titmldeqke qlnrieegld
       61 qinkdmrete ktltelnkcc glcvcpcnrf sdvgcfyetr tknfesgkay kttwgdggen
      121 spcnvvskqp gpvtngqlqq pttgaasggy ikritndare demeenltqv gsilgnlkdm
      181 alnigneida qnpqikritd kadtnrdrid ianarakkli ds
//
LOCUS       XP_047294701             240 aa            linear   PRI 20-MAR-2023
DEFINITION  dnaJ homolog subfamily B member 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047294701
VERSION     XP_047294701.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438745.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..240
                     /product="dnaJ homolog subfamily B member 1 isoform X1"
                     /calculated_mol_wt=26885
     Region          62..226
                     /region_name="DnaJ_C"
                     /note="C-terminal substrate binding domain of DnaJ and
                     HSP40; cd10747"
                     /db_xref="CDD:199909"
     Site            order(66,81..86,101,125)
                     /site_type="other"
                     /note="substrate binding site [polypeptide binding]"
                     /db_xref="CDD:199909"
     Site            order(162..163,166..167,188..191,222..226)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:199909"
     CDS             1..240
                     /gene="DNAJB1"
                     /gene_synonym="Hdj1; Hsp40; HSPF1; RSPH16B; Sis1"
                     /coded_by="XM_047438745.1:705..1427"
                     /db_xref="GeneID:3337"
                     /db_xref="HGNC:HGNC:5270"
                     /db_xref="MIM:604572"
ORIGIN      
        1 mfaeffggrn pfdtffgqrn geegmdiddp fsgfpmgmgg ftnvnfgrsr saqeparkkq
       61 dppvthdlrv sleeiysgct kkmkishkrl npdgksirne dkiltievkk gwkegtkitf
      121 pkegdqtsnn ipadivfvlk dkphnifkrd gsdviypari slrealcgct vnvptldgrt
      181 ipvvfkdvir pgmrrkvpge glplpktpek rgdliiefev ifperipqts rtvleqvlpi
//
LOCUS       XP_016882770             176 aa            linear   PRI 20-MAR-2023
DEFINITION  kxDL motif-containing protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_016882770
VERSION     XP_016882770.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027281.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..176
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..176
                     /product="kxDL motif-containing protein 1 isoform X1"
                     /calculated_mol_wt=19537
     Region          14..93
                     /region_name="KxDL"
                     /note="Uncharacterized conserved protein; pfam10241"
                     /db_xref="CDD:431165"
     CDS             1..176
                     /gene="KXD1"
                     /gene_synonym="BORCS4; C10orf50; C19orf50; KXDL; MST096;
                     MSTP096"
                     /coded_by="XM_017027281.2:2703..3233"
                     /db_xref="GeneID:79036"
                     /db_xref="HGNC:HGNC:28420"
                     /db_xref="MIM:615178"
ORIGIN      
        1 mdlpdsasrv fcgrilsmvn tddvnaiila qknmldrfek tnemllnfnn lssarlqqms
       61 erflhhtrtl vemkrdldsi frrirtlkgk larqhpeafs hipeasflee ededpippst
      121 tttiatseqs tgscdtspdt vspslspgfe dlshvqpgsp aingrsqtdd eemtge
//
LOCUS       XP_047296139             896 aa            linear   PRI 20-MAR-2023
DEFINITION  PHD finger protein 20 isoform X3 [Homo sapiens].
ACCESSION   XP_047296139
VERSION     XP_047296139.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440183.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..896
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..896
                     /product="PHD finger protein 20 isoform X3"
                     /calculated_mol_wt=101257
     Region          60..163
                     /region_name="DUF3776"
                     /note="Protein of unknown function (DUF3776); pfam12618"
                     /db_xref="CDD:432674"
     Region          538..581
                     /region_name="PHD_PHF20"
                     /note="PHD finger found in PHD finger protein 20 (PHF20);
                     cd15634"
                     /db_xref="CDD:277104"
     Site            order(538,549..553,557,576)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277104"
     CDS             1..896
                     /gene="PHF20"
                     /gene_synonym="C20orf104; GLEA2; HCA58; NZF; TDRD20A; TZP"
                     /coded_by="XM_047440183.1:47..2737"
                     /db_xref="GeneID:51230"
                     /db_xref="HGNC:HGNC:16098"
                     /db_xref="MIM:610335"
ORIGIN      
        1 msrsllagli vvftrpksll ltrmnivgna rpketdhksl ssspdkrekf keqrkatvnv
       61 kkdkedkplk tekrpkqpdk egklicsekg kvsekslpkn ekedkenise ndreysgdaq
      121 vdkkpendiv kspqenlrep krkrgrppsi aptavdsnsq tlqpitlelr rrkiskgcev
      181 plkrprldkn ssqeksknys entdkdlsrr rssrlstngt heildpdlvv sdlvdtdplq
      241 dtlsstkese egqlksalea gqvssaltch sfgdgsgaag lelncpsmge ntmkteptsp
      301 lvelqeistv evtntfkktd dfgssnapav dldhkfrckv vdclkffrka kllhyhmkyf
      361 hgmekslepe espgkrhvqt rgpsasdkps qetltrkrvs asspttkdke knkekkfkef
      421 vrvkpkkkkk kkkktkpecp cseeisdtsq epsppkafav trcgsshkpg vhmspqlhgp
      481 esghhkgkvk aleednlses ssesflwsdd eygqdvdvtt npdeeldgdd rydfevvrci
      541 cevqeendfm iqceecqcwq hgvcmgllee nvpekytcyv cqdppgqrpg fkywydkewl
      601 srghmhglaf leenyshqna kkivathqll gdvqrvievl hglqlkmsil qsrehpdlpl
      661 wcqpwkqhsg egrshfrnip vtdtrskeea psyrtlngav ekprplalpl prsveesyit
      721 sehcyqkpra yypaveqklv vetrgsaldd avnplhengd dslsprlgwp ldqdrskgds
      781 dpkpgspkvk eyvskkalpe eaparklldr ggegllssqh qwqfnllthv eslqdevthr
      841 mdsiekeldv leswldytge leppeplarl pqlkhcikql lmdlgkvqqi alccst
//
LOCUS       XP_016862551            1110 aa            linear   PRI 20-MAR-2023
DEFINITION  fibronectin type III domain-containing protein 3B isoform X2 [Homo
            sapiens].
ACCESSION   XP_016862551
VERSION     XP_016862551.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017007062.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1110
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1110
                     /product="fibronectin type III domain-containing protein
                     3B isoform X2"
                     /calculated_mol_wt=122522
     Region          186..280
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(269..270,272..273)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          285..376
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(285,349,364)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(365..366,368..369)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          384..473
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(384,446,461)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(462..463,465..466)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          478..572
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(478,545,560)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(561..562,564..565)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          577..668
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(577,641,656)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(657..658,660..661)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          673..762
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(673,735,750)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(751..752,754..755)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          792..853
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(849..850,852..853)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          876..955
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(944..945,947..948)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          960..1033
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     CDS             1..1110
                     /gene="FNDC3B"
                     /gene_synonym="FAD104; PRO4979; YVTM2421"
                     /coded_by="XM_017007062.2:223..3555"
                     /db_xref="GeneID:64778"
                     /db_xref="HGNC:HGNC:24670"
                     /db_xref="MIM:611909"
ORIGIN      
        1 myvtmmmtdq iplelpplln gevammphlv ngdaaqqvil vqvnpgetft iraedgtlqc
       61 iqgpaevpmm spngsippih vppgyisqvi edstgvrrvv vtpqspecyp psypsamspt
      121 hhlppylthh phfihnshta yyppvtgpgd mppqffpqhh lphtiygeqe yelevkrvqd
      181 ilsgiekpqv sniqaravvl swappvglsc gphsglsfpy syevalsdkg rdgkykiiys
      241 geelecnlkd lrpatdyhvr vyamynsvkg scsepvsftt hscapecpfp pklahrskss
      301 ltlqwkapid ngskitnyll ewdegkrnsg frqcffgsqk hckltklcpa mgytfrlaar
      361 ndigtsgysq evvcytlgni pqmpsaprlv ragitwvtlq wskpegcspe evitytleiq
      421 edendnlfhp kytgedltct vknlkrstqy kfrltasnte gkscpsevlv cttspdrpgp
      481 ptrplvkgpv tshgfsvkwd ppkdnggsei lkylleitdg nseanqweva ysgsateytf
      541 thlkpgtlyk lraccistgg hsqcseslpv rtlsiapgqc rpprvlgrpk hkevhlewdv
      601 pasesgcevs eysvemtepe dvasevyhgp electvgnll pgtvyrfrvr alndggygpy
      661 sdvseittaa gppgqckapc isctpdgcvl vgwespdssg adiseyrlew gedeesleli
      721 yhgtdtrfei rdllpaaqyc crlqafnqag agpyselvlc qtpasapdpv stlcvleeep
      781 ldaypdspsa clvlnweepc nngseilayt idlgdtsitv gnttmhvmkd llpettyrir
      841 iqaineigag pfsqfikakt rplpplpprl ecaaagpqsl klkwgdsnsk thaaedivyt
      901 lqledrnkrf isiyrgpsht ykvqrlteft cysfriqaas eagegpfset ytfsttksvp
      961 ptikaprvtq legnsceilw etvpsmkgdp vnyilqvlvg reseykqvyk geeatfqisg
     1021 lqtntdyrfr vcacrrcldt sqelsgafsp saafvlqrse vmltgdmgsl ddpkmksmmp
     1081 tdeqfaaiiv lgfatlsilf afilqyflmk
//
LOCUS       XP_047305127             233 aa            linear   PRI 20-MAR-2023
DEFINITION  vesicle-trafficking protein SEC22c isoform X3 [Homo sapiens].
ACCESSION   XP_047305127
VERSION     XP_047305127.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449171.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 17% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..233
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..233
                     /product="vesicle-trafficking protein SEC22c isoform X3"
                     /calculated_mol_wt=26250
     Region          <1..47
                     /region_name="Longin"
                     /note="Regulated-SNARE-like domain; pfam13774"
                     /db_xref="CDD:433467"
     CDS             1..233
                     /gene="SEC22C"
                     /gene_synonym="SEC22L3"
                     /coded_by="XM_047449171.1:362..1063"
                     /db_xref="GeneID:9117"
                     /db_xref="HGNC:HGNC:16828"
                     /db_xref="MIM:604028"
ORIGIN      
        1 maicscqcpa amafcfletl wweftasydt tciglasrpy aflefdsiiq kvkwhfnyvs
       61 ssqmecslek iqeelklqpp avltledtdv angvmnghtp mhlepapnfr mepvtalgil
      121 slilnimcaa lnlirgvhla ehslqvahee ignilaflvp fvacifqcyl ylfyspartm
      181 kvvlmllfic lgnmylhglr nlwqilfhig vaflssyqil trqlqekqsd cgv
//
LOCUS       XP_047274123             321 aa            linear   PRI 20-MAR-2023
DEFINITION  monocarboxylate transporter 10 isoform X2 [Homo sapiens].
ACCESSION   XP_047274123
VERSION     XP_047274123.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418167.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..321
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..321
                     /product="monocarboxylate transporter 10 isoform X2"
                     /calculated_mol_wt=34066
     Region          70..>316
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     CDS             1..321
                     /gene="SLC16A10"
                     /gene_synonym="MCT10; PRO0813; TAT1"
                     /coded_by="XM_047418167.1:251..1216"
                     /db_xref="GeneID:117247"
                     /db_xref="HGNC:HGNC:17027"
                     /db_xref="MIM:607550"
ORIGIN      
        1 mvlsqeepds argtseaqpl gpaptgaapp pgpgpsdspe aavekvevel agpataephe
       61 ppeppeggwg wlvmlaamwc ngsvfgiqna cgvlfvsmle tfgskdddkm vfktawvgsl
      121 smgmiffccp ivsvftdlfg crktavvgaa vgfvglmsss fvssieplyl tygiifacgc
      181 sfayqpslvi lghyfkkrlg lvngivtags svftillpll lrvlidsvgl fytlrvlcif
      241 mfvlflagft yrplatstkd kesggsgssl fsrkkfsppk kifnfaifkv tayavwavgi
      301 plalfgyfvp yvhlistsaa i
//
LOCUS       XP_047275282             931 aa            linear   PRI 20-MAR-2023
DEFINITION  epithelial discoidin domain-containing receptor 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047275282
VERSION     XP_047275282.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419326.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..931
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..931
                     /product="epithelial discoidin domain-containing receptor
                     1 isoform X2"
                     /calculated_mol_wt=102887
     Region          78..202
                     /region_name="FA58C"
                     /note="Coagulation factor 5/8 C-terminal domain, discoidin
                     domain; Cell surface-attached carbohydrate-binding domain,
                     present in eukaryotes and assumed to have horizontally
                     transferred to eubacterial genomes; cd00057"
                     /db_xref="CDD:238014"
     Site            order(92,123,131)
                     /site_type="other"
                     /note="sugar binding site [chemical binding]"
                     /db_xref="CDD:238014"
     Region          622..925
                     /region_name="PTKc_DDR1"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Discoidin Domain Receptor 1; cd05096"
                     /db_xref="CDD:133227"
     Site            order(634..638,642,671,673,719..722,725..726,784,788..789,
                     791,802,820..824,833,868)
                     /site_type="active"
                     /db_xref="CDD:133227"
     Site            order(634..635,637..638,642,671,673,719..722,725..726,
                     788..789,791,802)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133227"
     Site            order(784,788,820..824,833,868)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133227"
     Site            801..826
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133227"
     CDS             1..931
                     /gene="DDR1"
                     /gene_synonym="CAK; CD167; DDR; EDDR1; HGK2; MCK10; NEP;
                     NTRK4; PTK3; PTK3A; RTK6; TRKE"
                     /coded_by="XM_047419326.1:376..3171"
                     /db_xref="GeneID:780"
                     /db_xref="HGNC:HGNC:2730"
                     /db_xref="MIM:600408"
ORIGIN      
        1 mslprccphp lrpegsgamg pealssllll llvasgdadm kghfdpakcr yalgmqdrti
       61 pdsdisasss wsdstaarhs rlessdgdga wcpagsvfpk eeeylqvdlq rlhlvalvgt
      121 qgrhagglgk efsrsyrlry srdgrrwmgw kdrwgqevis gnedpegvvl kdlgppmvar
      181 lvrfypradr vmsvclrvel ygclwrdgll sytapvgqtm ylseavylnd stydghtvgg
      241 lqygglgqla dgvvglddfr ksqelrvwpg ydyvgwsnhs fssgyvemef efdrlrafqa
      301 mqvhcnnmht lgarlpggve crfrrgpama wegepmrhnl ggnlgdprar avsvplggrv
      361 arflqcrflf agpwllfsei sfisdvvnns spalggtfpp apwwppgppp tnfsslelep
      421 rgqqpvakae gsptailigc lvaiilllll iialmlwrlh wrrllskaer rvleeeltvh
      481 lsvpgdtili nnrpgprepp pyqeprprgn pphsapcvpn gsalllsnpa yrlllatyar
      541 pprgpgpptp awakptntqa ysgdymepek pgapllpppp qnsvphyaea divtlqgvtg
      601 gntyavpalp pgavgdgppr vdfprsrlrf keklgegqfg evhlcevdsp qdlvsldfpl
      661 nvrkghpllv avkilrpdat knarndflke vkimsrlkdp niirllgvcv qddplcmitd
      721 ymengdlnqf lsahqledka aegapgdgqa aqgptisypm llhvaaqias gmrylatlnf
      781 vhrdlatrnc lvgenftiki adfgmsrnly agdyyrvqgr avlpirwmaw ecilmgkftt
      841 asdvwafgvt lwevlmlcra qpfgqltdeq vienageffr dqgrqvylsr ppacpqglye
      901 lmlrcwsres eqrppfsqlh rflaedalnt v
//
LOCUS       XP_047275690             477 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA-binding protein Ikaros isoform X16 [Homo sapiens].
ACCESSION   XP_047275690
VERSION     XP_047275690.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419734.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..477
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..477
                     /product="DNA-binding protein Ikaros isoform X16"
                     /calculated_mol_wt=52575
     Region          119..139
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(124,126,128,130..131,134..135,138,152,154,158..159,
                     162..163,166,180,182,184,186..187,190..191,194)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          132..156
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          147..167
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          159..184
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          175..195
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..477
                     /gene="IKZF1"
                     /gene_synonym="CVID13; Hs.54452; IK1; IKAROS; LyF-1; LYF1;
                     PPP1R92; PRO0758; ZNFN1A1"
                     /coded_by="XM_047419734.1:482..1915"
                     /db_xref="GeneID:10320"
                     /db_xref="HGNC:HGNC:13176"
                     /db_xref="MIM:603023"
ORIGIN      
        1 mdadegqdms qvsgkesppv sdtpdegdep mpipedlstt sggqqssksd rvvasnvkve
       61 tqsdeengra cemngeecae dlrmldasge kmngshrdqg ssalsgvggi rlpngklkcd
      121 icgiicigpn vlmvhkrsht gerpfqcnqc gasftqkgnl lrhiklhsge kpfkchlcny
      181 acrrrdaltg hlrthsvike etnhsemaed lckigsersl vldrlasnva krkssmpqkf
      241 lgdkglsdtp ydssasyeke nemmkshvmd qainnainyl gaeslrplvq tppggsevvp
      301 vispmyqlhk plaegtprsn hsaqdsaven llllskaklv psereaspsn scqdstdtes
      361 nneeqrsgli yltnhiapha rnglslkeeh raydllraas ensqdalrvv stsgeqmkvy
      421 kcehcrvlfl dhvmytihmg chgfrdpfec nmcgyhsqdr yefsshitrg ehrfhms
//
LOCUS       XP_047276226             714 aa            linear   PRI 20-MAR-2023
DEFINITION  metabotropic glutamate receptor 8 isoform X2 [Homo sapiens].
ACCESSION   XP_047276226
VERSION     XP_047276226.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420270.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..714
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..714
                     /product="metabotropic glutamate receptor 8 isoform X2"
                     /calculated_mol_wt=80179
     Region          <1..310
                     /region_name="Periplasmic_Binding_Protein_type1"
                     /note="Type 1 periplasmic binding fold superfamily;
                     cl10011"
                     /db_xref="CDD:447875"
     Region          318..368
                     /region_name="NCD3G"
                     /note="Nine Cysteines Domain of family 3 GPCR; pfam07562"
                     /db_xref="CDD:429539"
     Region          388..698
                     /region_name="7tmC_mGluR8"
                     /note="metabotropic glutamate receptor 8 in group 3,
                     member of the class C family of seven-transmembrane G
                     protein-coupled receptors; cd15454"
                     /db_xref="CDD:320570"
     Region          388..413
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320570"
     Site            order(391,394..395,398..399,401..402,436,440,443..444,452,
                     456)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:320570"
     Region          425..446
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320570"
     Site            order(445,457..458,461..462,465,550,555,558..559,562,596,
                     599..600,603,607,620..621,624,627,631)
                     /site_type="other"
                     /note="putative allosteric modulator binding site
                     [chemical binding]"
                     /db_xref="CDD:320570"
     Region          455..479
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320570"
     Region          501..521
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320570"
     Region          551..577
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320570"
     Region          585..608
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320570"
     Region          618..643
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320570"
     CDS             1..714
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /coded_by="XM_047420270.1:246..2390"
                     /db_xref="GeneID:2918"
                     /db_xref="HGNC:HGNC:4600"
                     /db_xref="MIM:601116"
ORIGIN      
        1 mvppdsyqaq amvdivtalg wnyvstlase gnygesgvea ftqisreigg vciaqsqkip
       61 reprpgefek iikrlletpn aravimfane ddirrileaa kklnqsghfl wigsdswgsk
      121 iapvyqqeei aegavtilpk rasidgfdry frsrtlannr rnvwfaefwe enfgcklgsh
      181 gkrnshikkc tgleriards syeqegkvqf vidavysmay alhnmhkdlc pgyiglcprm
      241 stidgkellg yiravnfngs agtpvtfnen gdapgrydif qyqitnkste ykvighwtnq
      301 lhlkvedmqw ahrehthpas vcslpckpge rkktvkgvpc cwhcercegy nyqvdelsce
      361 lcpldqrpnm nrtgcqlipi iklewhspwa vvpvfvailg iiattfvivt fvryndtpiv
      421 rasgrelsyv lltgiflcys itflmiaapd tiicsfrrvf lglgmcfsya alltktnrih
      481 rifeqgkksv tapkfispas qlvitfslis vqllgvfvwf vvdpphiiid ygeqrtldpe
      541 kargvlkcdi sdlslicslg ysillmvtct vyaiktrgvp etfneakpig ftmyttciiw
      601 lafipiffgt aqsaekmyiq tttltvsmsl sasvslgmly mpkvyiiifh peqnvqkrkr
      661 sfkavvtaat mqskliqkgn drpngevkse lcesletnts stkttyisys nhsi
//
LOCUS       XP_047276935            2968 aa            linear   PRI 20-MAR-2023
DEFINITION  trinucleotide repeat-containing gene 18 protein isoform X3 [Homo
            sapiens].
ACCESSION   XP_047276935
VERSION     XP_047276935.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420979.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2968
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..2968
                     /product="trinucleotide repeat-containing gene 18 protein
                     isoform X3"
                     /calculated_mol_wt=314389
     Region          2220..2286
                     /region_name="Tudor_TNRC18"
                     /note="Tudor domain found in trinucleotide
                     repeat-containing gene 18 protein (TNRC18) and similar
                     proteins; cd20469"
                     /db_xref="CDD:410540"
     Site            order(2234,2240,2242,2264,2266,2268)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410540"
     Region          <2291..2531
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          2816..2960
                     /region_name="BAH_BAHCC1"
                     /note="BAH, or Bromo Adjacent Homology domain, as present
                     in mammalian BAHCC1 and similar proteins. BAHCC1 stands
                     for BAH domain and coiled-coil containing 1. BAH domains
                     are found in a variety of proteins playing roles in
                     transcriptional silencing and the...; cd04714"
                     /db_xref="CDD:240065"
     CDS             1..2968
                     /gene="TNRC18"
                     /gene_synonym="CAGL79; TNRC18A"
                     /coded_by="XM_047420979.1:685..9591"
                     /db_xref="GeneID:84629"
                     /db_xref="HGNC:HGNC:11962"
ORIGIN      
        1 mdgrdfgpqr svhgppppll sglamdshrv gaatagrlpa sglpgplppg kymaglnlhp
       61 hpgeaflgsf vasgmgpsas shgspvplps dlsfrsptps nlpmvqlwaa hahegfshlp
      121 sglypsylhl nhleppssgs pllsqlgqps ifdtqkgqgp ggdgfylpta gapgslhsha
      181 psartpgggh ssgapakgss srdgpakera grggeppplf gkkdprarge easgprgvvd
      241 ltqearaegr qdrgpprlae rlspflaesk tknaalqpsv ltmcnggagd vglpalvaea
      301 grggakeaar qdegarllrr tetllpgprp cpsplppppa ppkgppappa atpagvytvf
      361 reqgrehrvv aptfvpsvea fderpgpiqi asqardarar ereagrpgvl qappgsprpl
      421 drpeglrekn svirslkrpp padaptvrat raspdprayv pakellkpea dprpcerapr
      481 gpagpaaqqa aklfglepgr ppptgpehkw kpfelgnfaa tqmavlaaqh hhsraeeeaa
      541 vvaassskka yldpgavlpr saatcgrpva dmhsaahgsg easamqslik ysgsfardav
      601 avrpggcgkk spfgglgtmk pepaptsaga sraqarlphs ggpaagggrq lkrdperpes
      661 akafgregsg aqgeaevrhp pvgiavavar qkdsggsgrl gpglvdqers lslsnvkghg
      721 radedcvddr arhreerllg arldrdqekl lreskeladl arlhptscap nglnpnlmvt
      781 ggpalagsgr wsadpaahla thpwlprsgn asmwlaghpy glgppslhqg mapafppglg
      841 gslpsayqfv rdpqsgqlvv ipsdhlphfa elmeratvpp lwpalyppgr splhhaqqlq
      901 lfsqqhflrq qeflylqqqa aqalelqrsa qlvqerlkaq ehraemeekg skrgleaagk
      961 aglatagpgl lprkppglaa gpagtygkav spppsprasp vaalkakviq kledvskppa
     1021 yaypatpssh ptspppaspp ptpgitrkee apenvvekkd lelekeapsp fqalfsdipp
     1081 rypfqalpph ygrpypfllq ptaaadadgl apdvplpadg perlalsped kpirlspski
     1141 teplregpee eplaerevka evedmdegpt elpplesplp lpaaeamatp spaggcgggl
     1201 leaqalsatg qscaepsecp dfvegpeprv dspgrtepct aaldlgvqlt petlveakee
     1261 pvevpvavpv veavpeegla qvapsesqpt lemsdcdvpa gegqcpslep qeavpvlgst
     1321 cfleeassdq flpsledpla gmnalaaaae lpqarplpsp gaagaqalek leaaeslvle
     1381 qsflhgitll seiaeleler rsqemggaer alvarpsles llaagshmlr evldgpvvdp
     1441 lknlrlprel kpnkkyswmr kkeermyamk ssledmdale ldfrmrlaev qrqykekqre
     1501 lvklqrrrds edrreephrs larrgpgrpr krthapsals pprkrgksgh ssgklssksl
     1561 ltsddyelga girkrhkgse eehdaligmg kargrnqtwd eheassdfis qlkikkkkma
     1621 sdqeqlaskl dkalsltkqd klkspfkfsd saggksktsg gcgryltpyd sllgknrkal
     1681 akglglslks sregkhkraa ktrkmevgfk argqpksahs pfasevssys yntdseedee
     1741 flkdewpaqg pssskltpsl lcsmvaknsk aaggpkltkr glaaprtlkp kpatsrkqpf
     1801 clllreaear ssfsdssees fdqdesseee deeeeleeed easgggyrlg areralspgl
     1861 eesglgllar faasalpspt vgpslsvvql eakqkarkke erqsllgtef eytdsesevk
     1921 vrkrspagll rpkkglgepg pslaaptpga rgpdpsspdk aklavekgrk arklrgpkep
     1981 gfeagpeasd ddlwtrrrse riflhdasaa apapvstapa tktsrcakgg plsprkdagr
     2041 akdrkdprkk kkgkeagpga glppprapal psearaphas sltaakrska kakgkevkke
     2101 nrgkggavsk lmesmaaeed fepnqdssfs edehlprgga verpltpapr sciidkdelk
     2161 dglrvlipmd dkllyaghvq tvhspdiyrv vvegergnrp hiycleqllq eaiidvrpas
     2221 trflpqgtri aaywsqqyrc lypgtvvrgl ldleddgdli tvefddgdtg riplshirll
     2281 ppdykiqcae pspallvpsa krrsrktskd tgegkdggta gseepgakar grgrkpsaka
     2341 kgdraatlee gnptdevpst plalepsstp gskksppepv dkrakapkar pappqpspap
     2401 paftscpape pfaelpapat slapaplitm patrpkpkka raaeesgakg prrpgeeael
     2461 lvkldhegvt spkskkakea lllredpgag gwqepkslls lgsyppaags sepkapwpka
     2521 tdgdlaqepg pgltfedsgn pkspdkaqae qdgaeesess sssssgssss sssssssgse
     2581 tegeeegdkn gdggcgtggr ncsaassraa spasssssss ssssssssss ssssssssss
     2641 ssssssssss ssssssssss ssssssssss sttdedsscs sddeaapapt agpsaqaalp
     2701 tkatkqagka rpsahspgkk tpapqpqapp pqptqplqpk aqagaksrpk kregvhlptt
     2761 kelakrqrlp svenrpkiaa flparqlwkw fgkptqrrgm kgkarklfyk aivrgkemir
     2821 igdcavflsa grpnlpyigr iqsmweswgn nmvvrvkwfy hpeetspgkq fhqgqhwdqk
     2881 ssrslpaalr vssqrkdfme ralyqsshvd endvqtvshk clvvgleqye qmlktkkyqd
     2941 seglyylagt yepttgmifs tdgvpvlc
//
LOCUS       XP_016869666             372 aa            linear   PRI 20-MAR-2023
DEFINITION  rab9 effector protein with kelch motifs isoform X2 [Homo sapiens].
ACCESSION   XP_016869666
VERSION     XP_016869666.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014177.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..372
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..372
                     /product="rab9 effector protein with kelch motifs isoform
                     X2"
                     /calculated_mol_wt=40434
     Region          17..221
                     /region_name="PLN02153"
                     /note="epithiospecifier protein"
                     /db_xref="CDD:177814"
     Region          31..77
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          86..135
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          <126..>280
                     /region_name="PLN02193"
                     /note="nitrile-specifier protein"
                     /db_xref="CDD:177844"
     Region          139..189
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          193..240
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          243..283
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     CDS             1..372
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /coded_by="XM_017014177.2:193..1311"
                     /db_xref="GeneID:10244"
                     /db_xref="HGNC:HGNC:16896"
                     /db_xref="MIM:605962"
ORIGIN      
        1 mkqlpvlepg dkprkatwyt ltvpgdspca rvghscsylp pvgnakrgkv fivgganpnr
       61 sfsdvhtmdl gkhqwdldtc kgllpryeha sfipsctpdr iwvfgganqs gnrnclqvln
      121 petrtwttpe vtspppsprt fhtssaaign qlyvfggger gaqpvqdtkl hvfdantltw
      181 sqpetlgnpp sprhghvmva agtklfihgg lagdrfyddl hcidisdmkw qklnptgaap
      241 agcaahsava mgkhvyifgg mtpagaldtm yqyhteeqhw tllkfdtllp pgrldhsmci
      301 ipwpvtcase kedsnsltln heaekedsad kvmshsgdsh eesqtatllc lvfggmnteg
      361 eiyddcivtv vd
//
LOCUS       XP_016870071             118 aa            linear   PRI 20-MAR-2023
DEFINITION  thioredoxin domain-containing protein 8 isoform X3 [Homo sapiens].
ACCESSION   XP_016870071
VERSION     XP_016870071.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014582.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..118
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..118
                     /product="thioredoxin domain-containing protein 8 isoform
                     X3"
                     /calculated_mol_wt=13349
     Region          10..66
                     /region_name="TRX_family"
                     /note="TRX family; composed of two groups: Group I, which
                     includes proteins that exclusively encode a TRX domain;
                     and Group II, which are composed of fusion proteins of TRX
                     and additional domains. Group I TRX is a small ancient
                     protein that alter the redox...; cd02947"
                     /db_xref="CDD:239245"
     Site            order(32,35)
                     /site_type="active"
                     /note="catalytic residues [active]"
                     /db_xref="CDD:239245"
     CDS             1..118
                     /gene="TXNDC8"
                     /gene_synonym="bA427L11.2; SPTRX-3; SPTRX3; TRX6"
                     /coded_by="XM_017014582.2:68..424"
                     /db_xref="GeneID:255220"
                     /db_xref="HGNC:HGNC:31454"
                     /db_xref="MIM:617789"
ORIGIN      
        1 mvqiikdtne fktfltaagh klavvqfssk rcgpckrmfp vfhelaetch iktiptfqmf
       61 kksqkvtlfs rikriiccyr sgfmsnlife fcgadakkle aktqelinpv sgivlrnv
//
LOCUS       XP_054186700             174 aa            linear   PRI 20-MAR-2023
DEFINITION  V-set and transmembrane domain-containing protein 1 isoform X7
            [Homo sapiens].
ACCESSION   XP_054186700
VERSION     XP_054186700.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330725.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571057.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..174
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..174
                     /product="V-set and transmembrane domain-containing
                     protein 1 isoform X7"
                     /calculated_mol_wt=19638
     CDS             1..174
                     /gene="VSTM1"
                     /gene_synonym="SIRL-1; SIRL1; UNQ3033"
                     /coded_by="XM_054330725.1:121..645"
                     /db_xref="GeneID:284415"
                     /db_xref="HGNC:HGNC:29455"
                     /db_xref="MIM:616804"
ORIGIN      
        1 mtaeflsllc lglclgyede kknekppkps lhawpssvve aesnvtlkcq ahsqnvtfvl
       61 rkvndsgykq eqssaeneae fpftdlkpkd agryfcaykt tashewsess ehlqlvvtdk
      121 hdeleapsmk tdtrtifvai fscisilllf lsvfiiyrcs qhselrerkg rege
//
LOCUS       XP_054187615             641 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 780A isoform X2 [Homo sapiens].
ACCESSION   XP_054187615
VERSION     XP_054187615.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331640.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_009646206.1) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..641
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     Protein         1..641
                     /product="zinc finger protein 780A isoform X2"
                     /calculated_mol_wt=74400
     CDS             1..641
                     /gene="ZNF780A"
                     /gene_synonym="ZNF780"
                     /coded_by="XM_054331640.1:84..2009"
                     /db_xref="GeneID:284323"
                     /db_xref="HGNC:HGNC:27603"
ORIGIN      
        1 mvhgsvtfrd vaidfsqeew eclqpdqrtl yrdvmlenys hlislgssis kpdvitlleq
       61 ekepwmvvrk etsrrypdle lkygpekvsp endtsevnlp kqvikqistt lgieafyfrn
      121 dseyrqfegl qgyqegninq kmisyeklpt htphaslicn thkpyeckec gkyfsrsanl
      181 iqhqsihtge kpfeckecgk afrlhiqftr hqkfhtgekp fecnecgkaf slltllnrhk
      241 nihtgeklfe ckecgksfnr ssnlvqhqsi hsgvkpyeck ecgkgfnrga hliqhqkihs
      301 nekpfvckec gmafryhyql iehcqihtge kpfeckecgk aftlltklvr hqkihtgekp
      361 fecrecgkaf sllnqlnrhk nihtgekpfe ckecgksfnr ssnlvqhqsi hagikpyeck
      421 ecgkgfnrga hliqhqkihs nekpfvcrec emafryhcql iehsrihtgd kpfecqdcgk
      481 afnrgsslvq hqsihtgekp yeckecgkaf rlylqlsqhq kthtgekpfe ckecgkffrr
      541 gsnlnqhrsi htgkkpfeck ecgkafrlhm hlirhqklht gekpfeckec gkafrlhmql
      601 irhqklhtge kpfeckecgk vfslptqlnr hknihtgeka s
//
LOCUS       XP_054192110             617 aa            linear   PRI 20-MAR-2023
DEFINITION  ephrin type-A receptor 10 isoform X1 [Homo sapiens].
ACCESSION   XP_054192110
VERSION     XP_054192110.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336135.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..617
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..617
                     /product="ephrin type-A receptor 10 isoform X1"
                     /calculated_mol_wt=67246
     CDS             1..617
                     /gene="EPHA10"
                     /coded_by="XM_054336135.1:20..1873"
                     /db_xref="GeneID:284656"
                     /db_xref="HGNC:HGNC:19987"
                     /db_xref="MIM:611123"
ORIGIN      
        1 mqaspyywar geargsvasa gstcvlafll dslhkasvpl talqlaspli sqgkrapwee
       61 deirrdrvep qsvslswrep ipagapgand teyeiryyek gqseqtysmv ktgaptvtvt
      121 nlkpatryvf qiraaspgps weaqsfnpsi evqtlgeaas gsrdqspaiv vtvvtisall
      181 vlgsvmsvla iwrrpcsygk gggdahdeee lyfhfkvptr rtfldpqscg dllqavhlfa
      241 keldaksvtl erslgggrfg elccgclqlp grqellvavh mlrdsasdsq rlgflaealt
      301 lgqfdhshiv rlegvvtrgs tlmivteyms hgaldgflrr hegqlvagql mellpglasa
      361 mkylsemgyv hrglaarhvl vssdlvckis gfgrgprdrs eavyttmsgr spalwaapet
      421 lqfghfssas dvwsfgiimw evmafgerpy wdmsgqdvik avedgfrlpp prncpnllhr
      481 lmldcwqkdp gerprfsqih silskmvqdp eppkcalttc prpptpladr afstfpsfgs
      541 vgawlealdl crykdsfaaa gygsleavae mtaqdlvslg islaehreal lsgisalqar
      601 vlqlqgqgvq viiktcl
//
LOCUS       XP_054193822             992 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF17 isoform X10 [Homo sapiens].
ACCESSION   XP_054193822
VERSION     XP_054193822.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337847.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 7% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..992
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..992
                     /product="kinesin-like protein KIF17 isoform X10"
                     /calculated_mol_wt=110582
     CDS             1..992
                     /gene="KIF17"
                     /gene_synonym="KIF17B; KIF3X; KLP-2; OSM-3"
                     /coded_by="XM_054337847.1:301..3279"
                     /db_xref="GeneID:57576"
                     /db_xref="HGNC:HGNC:19167"
                     /db_xref="MIM:605037"
ORIGIN      
        1 maseavkvvv rcrpmnqrer elrcqpvvtv dcaraqcciq npgaadeppk qftfdgayhv
       61 dhvteqiyne iayplvegvt egyngtifay gqtgsgksft mqglpdppsq rgiiprafeh
      121 vfesvqcaen tkflvrasyl eiynedvrdl lgadtkqkle lkehpekgvy vkglsmhtvh
      181 svaqcehime tgwknrsvgy tlmnkdssrs hsiftisiem savdergkdh lragklnlvd
      241 lagserqskt gatgerlkea tkinlslsal gnvisalvdg rckhvpyrds kltrllqdsl
      301 ggntktlmva clspadnnyd etlstlryan raknirnkpr inedpkdall reyqeeikkl
      361 kailtqqmsp sslsallsrq vppdpvqvee kllpqpviqh dmeaekqlir eeyeerlarl
      421 kadykaeqes rarleedita mrnsydvrls tleenlrket eavlqvgvly kaevmsraef
      481 assaeyppaf qyetvvkpkv fsttdtlpsd dvsktqvssr faelpkveps kseislgsse
      541 sssleetsvs eafpgpeeps nvevsmptee srsryfldec lgqeaaghll geqnylpqee
      601 pqevplqgll glqdpfaeve aklarlsstv artdapqadv pkvpvqvpap tdllepsdar
      661 peaeaaddfp prpevdlase valevvrtae pgvwleaqap valvaqpepl patagvkres
      721 vgmevavltd dplpvvdqqq vlarlqlleq qvvggeqakn kdlkekhkrr kryaderrkq
      781 lvaalqnsde dsgdwvllnv ydsiqeevra kskllekmqr klraaeveik dlqsefqlek
      841 idylatirrq erdsmllqql leqvqplirr dcnysnleki lrescwdedn gfwkiphpvi
      901 tktslpqfql ghrtnqpakp lqqtmasrtw rrtatgscsv gatvktlpat tsdlsgpars
      961 saqtpgrasl psplasglwl gprgrwkscc lw
//
LOCUS       XP_054195071            1368 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 644 isoform X1 [Homo sapiens].
ACCESSION   XP_054195071
VERSION     XP_054195071.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339096.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1368
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1368
                     /product="zinc finger protein 644 isoform X1"
                     /calculated_mol_wt=153809
     CDS             1..1368
                     /gene="ZNF644"
                     /gene_synonym="BM-005; MYP21; NatF; ZEP-2"
                     /coded_by="XM_054339096.1:659..4765"
                     /db_xref="GeneID:84146"
                     /db_xref="HGNC:HGNC:29222"
                     /db_xref="MIM:614159"
ORIGIN      
        1 mrsflqqdvn ktksrlnvln glannmddlk intditgake ellddnnfis dkesgvhkpk
       61 dcqtsfqknn tltlpeelsk dksenalsgg qsslfihaga ptvssenfil pkgaavngpv
      121 shssltktsn mnkgsvsltt gqpvdqptte scstlkvaad lqlstpqkas qhqvlfllsd
      181 vahaknpths nkklptsasv gcdiqnsvgs niksdgtlin qvevgedged llvkddcvnt
      241 vtgissgtdg frsendtnwd pqkefiqflm tneetvdkap phskiglekk rkrkmdvski
      301 trytedcfsd sncvpnkskm qevdfleqne elqavdsqky alskvkpest dedlesvdaf
      361 qhliynpdkc geesspvhts tflsntlkkk ceesdsespa tfsteepsfy pctkcnvnfr
      421 ekkhlhrhmm yhldgnshfr hlnvprpyac recgrtfrdr nsllkhmiih qerrqklmee
      481 irelkelqde grsarlqcpq cvfgtncpkt fvqhakthek dkryycceec nfmavtenel
      541 echrgiahga vvkcpmvtsd iaqrktqkkt fmkdsvvgss kksatyickm cpfttsaksv
      601 lkkhteylhs sscvdsfgsp lgldkrkndi leepvdsdst ktltkqqstt fpknsalkqd
      661 vkrtfgstsq sssfskihkr phriqkarks iaqsgvnmcn qnssphknvt ikssvdqkpk
      721 yfhqaakeks nakanshyly rhkyenyrmi kksgesypvh fkkeeassln slhlfssssn
      781 shnnfisdph kpdakrpesf kdhrrvavkr vikeskkess vggedldsyp dflhkmtvvv
      841 lqklnsaekk dsyetedess wdnvelgdyt tqaiedetys dinqehvnlf plfkskvegq
      901 epgenatlsy dqndgfyfey yedtgsnnfl heihdpqhle tadaslskhs svfhwtdlsl
      961 ekkscpycpa tfetgvglsn hvrghlhrag lsyearhvvs peqiatsdkm qhfkrtgtgt
     1021 pvkrvrkaie ksettsehtc qlcggwfdtk iglsnhvrgh lkrlgktkwd ahkspicvln
     1081 emmqneekye kilkalnsrr iiprpfvaqk lassddfisq nvipleayrn glktealsvs
     1141 aseeeglnfl neydetkpel psgkknqslt liellknkrm geernsaisp qkihnqtark
     1201 rfvqkcvlpl nedsplmyqp qkmdltmhsg mpvklrtcvh cnttftsavs lsnhlrayar
     1261 kksaglltgt aldckqkksr srsgskkkml tlphgadevy ilrcrfcglv frgplsvqed
     1321 wikhlqrhiv nanlprtgag mvevtsllkk pasitetsfs llmaeaas
//
LOCUS       XP_054220700             360 aa            linear   PRI 20-MAR-2023
DEFINITION  protrudin isoform X3 [Homo sapiens].
ACCESSION   XP_054220700
VERSION     XP_054220700.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364725.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..360
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..360
                     /product="protrudin isoform X3"
                     /calculated_mol_wt=40125
     CDS             1..360
                     /gene="ZFYVE27"
                     /gene_synonym="PROTRUDIN; SPG33"
                     /coded_by="XM_054364725.1:196..1278"
                     /db_xref="GeneID:118813"
                     /db_xref="HGNC:HGNC:26559"
                     /db_xref="MIM:610243"
ORIGIN      
        1 mqtseregsg pelspsvmpe aplesppfpt kspafdlfnl vlsykrleiy leplkdagdg
       61 vryllrwqmp lcslltclgl nvlfltlneg awysvgalmi svpallgylq evcrarlpds
      121 elmrrkyhsv rqedlqrvrl srpeavaevk sfliqleafl srlcctceaa yrvlhwenpv
      181 vssqfygall gtvcmlyllp lcwvltllns tlflgnveff rvvseyrasl qqrmnpkqee
      241 hafesppppd vggkdglmds tpaltptesl ssqdltpgsv eeaeeaepde efkdaieeth
      301 lvvleddega pcpaedelal qdngflskne vlrskvsrlt erlrkryptn nfgvtgagss
//
LOCUS       XP_054221265            1237 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger SWIM domain-containing protein 8 isoform X18 [Homo
            sapiens].
ACCESSION   XP_054221265
VERSION     XP_054221265.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365290.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1237
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1237
                     /product="zinc finger SWIM domain-containing protein 8
                     isoform X18"
                     /calculated_mol_wt=132792
     CDS             1..1237
                     /gene="ZSWIM8"
                     /gene_synonym="KIAA0913"
                     /coded_by="XM_054365290.1:274..3987"
                     /db_xref="GeneID:23053"
                     /db_xref="HGNC:HGNC:23528"
                     /db_xref="MIM:619213"
ORIGIN      
        1 melmfaewed gerfsfedsd rfeedslcsf iseaeslcqn wrgwrkqsag pnsptggggg
       61 ggsggtrmrd glviplvels akqvafhipf evvekvyppv peqlqlriaf wsfpeneedi
      121 rlysclangs adefqrgdql frmravkdpl qigfhlsatv vppqmvppkg aynvavmfdr
      181 crvtscsctc gagakwcthv valclfrihn asavclrapv seslsrlqrd qlqkfaqyli
      241 selpqqilpt aqrlldells sqstaintvc gapdptagps asdqstwyld estltdnikk
      301 tlhkfcgpsp vvfsdvnsmy lssteppaaa ewacllrplr grepegvwnl lsivremfkr
      361 rdsnaaplle iltdqcltye qitgwwysvr tsashssasg htgrsngqse vaahacasmc
      421 demvtlwrla vldpalspqr rrelctqlrq wqlkvienvk rgqhkktler lfpgfrpave
      481 acyfnweeay plpgvtysgt drklalcwar alpsrpgasr sggleesrdr prplptepav
      541 rpkepgtkrk glgegvpssq rgprrlsaeg gdkalhkmgp gggkakalgg agsgskgsag
      601 ggskrrlsse dsslepdlae mslddsslal gaeastfggf pespppcplh ggsrgpstfl
      661 peppdtyeed ggvyfsegpe pptasvgppg llpgdvctqd dlpstdesgn glpktkeaap
      721 avgeedddyq ayylnaqdga ggeeekaegg ageehdlfag lkpleqesrm evlfacaeal
      781 hahgysseas rltvelaqdl lanppdlkve pppakgkknk vstsrqtwva tntlskaafl
      841 ltvlserpeh hnlafrvgmf alelqrppas tkalevklay qesevaallk kiplgpsems
      901 tmrcraeelr egtlcdyrpv lplmlasfif dvlcapvvsp tgsrppsrnw nsetpgdeel
      961 gfeaavaalg mkttvseaeh pllcegtrre kgdlalalmi tykddqaklk kildklldre
     1021 sqthkpqtls sfysssrptt asqrspskhg gpsapgalqp ltsgsagpaq pgsvagagpg
     1081 ptegfteknv pessphspce glpseaaltp rpegkvpsrl algsrggyng rgwgspgrpk
     1141 kkhtgmasid ssapettsds sptlsrrplr ggwaptswgr gqdsdsisss ssdslgssss
     1201 sgsrrasasg garaktvevg shqrqlhtst sswrrqc
//
LOCUS       XP_054225190             325 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptotagmin-like protein 2 isoform X26 [Homo sapiens].
ACCESSION   XP_054225190
VERSION     XP_054225190.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369215.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..325
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..325
                     /product="synaptotagmin-like protein 2 isoform X26"
                     /calculated_mol_wt=37168
     CDS             1..325
                     /gene="SYTL2"
                     /gene_synonym="CHR11SYT; EXO4; PPP1R151; SGA72M; SLP2;
                     SLP2A"
                     /coded_by="XM_054369215.1:157..1134"
                     /db_xref="GeneID:54843"
                     /db_xref="HGNC:HGNC:15585"
                     /db_xref="MIM:612880"
ORIGIN      
        1 mvsgsvmsvy sgdfgnlevk gniqfaieyv eslkelhvfv aqckdlaaad vkkqrsdpyv
       61 kayllpdkgk mgkkktlvvk ktlnpvynei lrykiekqil ktqklnlsiw hrdtfkrnsf
      121 lgeveldlet wdwdnkqnkq lrwyplkrkt apvaleaenr gemklalqyv pepvpgkklp
      181 ttgevhiwvk ecldlpllrg shlnsfvkct ilpdtsrksr qktravgktt npifnhtmvy
      241 dgfrpedlme acveltvwdh ykltnqflgg lrigfgtgks ygtevdwmds tseevalwek
      301 mvnspntwie atlplrmlli akisk
//
LOCUS       XP_054226825            2069 aa            linear   PRI 20-MAR-2023
DEFINITION  citron Rho-interacting kinase isoform X3 [Homo sapiens].
ACCESSION   XP_054226825
VERSION     XP_054226825.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370850.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2069
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2069
                     /product="citron Rho-interacting kinase isoform X3"
                     /calculated_mol_wt=236512
     CDS             1..2069
                     /gene="CIT"
                     /gene_synonym="CITK; CRIK; MCPH17; STK21"
                     /coded_by="XM_054370850.1:86..6295"
                     /db_xref="GeneID:11113"
                     /db_xref="HGNC:HGNC:1985"
                     /db_xref="MIM:605629"
ORIGIN      
        1 mlkfkygarn pldagaaepi asrasrlnlf fqgkppfmtq qqmsplsreg ildalfvlfe
       61 ecsqpalmki khvsnfvrky sdtiaelqel qpsakdfevr slvgcghfae vqvvrekatg
      121 diyamkvmkk kallaqeqvs ffeeernils rstspwipql qyafqdknhl ylvmeyqpgg
      181 dllsllnrye dqldenliqf ylaelilavh svhlmgyvhr dikpenilvd rtghiklvdf
      241 gsaakmnsnk mvnaklpigt pdymapevlt vmngdgkgty gldcdwwsvg viayemiygr
      301 spfaegtsar tfnnimnfqr flkfpddpkv ssdfldliqs llcgqkerlk feglcchpff
      361 skidwnnirn spppfvptlk sdddtsnfde peknswvsss pcqlspsgfs geelpfvgfs
      421 yskalgilgr sesvvsglds paktssmekk llikskelqd sqdkchkmeq emtrlhrrvs
      481 eveavlsqke velkasetqr slleqdlaty itecsslkrs leqarmevsq eddkalqllh
      541 direqsrklq eikeqeyqaq veemrlmmnq leedlvsarr rsdlyeselr esrlaaeefk
      601 rkatecqhkl lkakdqgkpe vgeyakleki naeqqlkiqe lqeklekavk asteatellq
      661 nirqakerae releklqnre dssegirkkl veaeerrhsl enkvkrletm errenrlkdd
      721 iqtksqqiqq madkilelee khreaqvsaq hlevhlkqke qhyeekikvl dnqikkdlad
      781 ketlenmmqr heeeahekgk ilseqkamin amdskirsle qrivelsean klaansslft
      841 qrnmkaqeem iselrqqkfy letqagklea qnrkleeqle kishqdhsdk nrlleletrl
      901 revsleheeq klelkrqlte lqlslqeres qltalqaara alesqlrqak teleettaea
      961 eeeiqaltah rdeiqrkfda lrnsctvitd leeqlnqlte dnaelnnqnf ylskqldeas
     1021 gandeivqlr sevdhlrrei teremqltsq kqtmealktt ctmleeqvmd lealndelle
     1081 kerqweawrs vlgdeksqfe crvrelqrml dtekqsrara dqritesrqv velavkehka
     1141 eilalqqalk eqklkaesls dklndlekkh amlemnarsl qqkleterel kqrlleeqak
     1201 lqqqmdlqkn hifrltqglq ealdradllk tersdleyql eniqvlyshe kvkmegtisq
     1261 qtklidflqa kmdqpakkkk vplqynelkl alekekarca eleealqktr ielrsareea
     1321 ahrkatdhph pstpatarqq iamsaivrsp ehqpsamsll appssrrkes stpeefsrrl
     1381 kermhhniph rfnvglnmra tkcavcldtv hfgrqaskcl ecqvmchpkc stclpatcgl
     1441 paeyathfte afcrdkmnsp glqtkepsss lhlegwmkvp rnnkrgqqgw drkyivlegs
     1501 kvliydnear eagqrpveef elclpdgdvs ihgavgasel antakadvpy ilkmeshpht
     1561 tcwpgrtlyl lapsfpdkqr wvtalesvva ggrvsrekae adaardcvsy ellpawvqkl
     1621 lgnsllkleg ddrldmnctl pfsdqvvlvg teeglyalnv lknslthvpg igavfqiyii
     1681 kdlekllmia geeralclvd vkkvkqslaq shlpaqpdis pnifeavkgc hlfgagkien
     1741 glcicaamps kvvilrynen lskycirkei etsepcscih ftnysiligt nkfyeidmkq
     1801 ytleefldkn dhslapavfa assnsfpvsi vqvnsagqre eyllcfhefg vfvdsygrrs
     1861 rtddlkwsrl plafayrepy lfvthfnsle vieiqarssa gtparayldi pnprylgpai
     1921 ssgaiylass yqdklrvicc kgnlvkesgt ehhrgpstsr sspnkrgppt ynehitkrva
     1981 sspappegps hprepstphr yregrtelrr dkspgrpler ekspgrmlst rrerspgrlf
     2041 edssrgrlpa gavrtplsqv nkvwdqssv
//
LOCUS       XP_054231933             293 aa            linear   PRI 20-MAR-2023
DEFINITION  heterogeneous nuclear ribonucleoproteins C1/C2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054231933
VERSION     XP_054231933.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375958.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..293
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..293
                     /product="heterogeneous nuclear ribonucleoproteins C1/C2
                     isoform X2"
                     /calculated_mol_wt=32206
     CDS             1..293
                     /gene="HNRNPC"
                     /gene_synonym="C1; C2; HNRNP; HNRPC; SNRPC"
                     /coded_by="XM_054375958.1:1418..2299"
                     /db_xref="GeneID:3183"
                     /db_xref="HGNC:HGNC:5035"
                     /db_xref="MIM:164020"
ORIGIN      
        1 masnvtnktd prsmnsrvfi gnlntlvvkk sdveaifsky gkivgcsvhk gfafvqyvne
       61 rnaraavage dgrmiagqvl dinlaaepkv nrgkagvkrs aaemygssfd ldydfqrdyy
      121 drmysyparv pppppiarav vpskrqrvsg ntsrrgksgf nsksgqrgss ksgklkgddl
      181 qaikkeltqi kqkvdsllen lekiekeqsk qavemkndks eeeqssssvk kdetnvkmes
      241 eggaddsaee gdllddddne drgddqleli kddekeaeeg eddrdsange dds
//
LOCUS       XP_054234388            1213 aa            linear   PRI 20-MAR-2023
DEFINITION  Fanconi anemia group I protein isoform X4 [Homo sapiens].
ACCESSION   XP_054234388
VERSION     XP_054234388.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378413.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1213
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1213
                     /product="Fanconi anemia group I protein isoform X4"
                     /calculated_mol_wt=136250
     CDS             1..1213
                     /gene="FANCI"
                     /gene_synonym="KIAA1794"
                     /coded_by="XM_054378413.1:213..3854"
                     /db_xref="GeneID:55215"
                     /db_xref="HGNC:HGNC:25568"
                     /db_xref="MIM:611360"
ORIGIN      
        1 mdqkilslaa ektadklqef lqtlregdlt nllqnqavkg kvagallrai fkgspcseea
       61 gtlrrrkiyt cciqlvesgd lqkeiaseii gllmleahhf pgpllvelan efisavregs
      121 lvngkslell piiltalatk kenlaygkgv lsgeeckkql intlcsgrwd qqyviqltsm
      181 fkdvpltaee vefvvekals mfskmnlqei pplvyqllvl sskgsrksvl egiiaffsal
      241 dkqhneeqsg delldvvtvp sgelrhvegt iilhivfaik ldyelgrelv khlkvgqqgd
      301 snnnlspfsi alllsvtriq rfqdqvldll ktsvvksfkd lqllqgskfl qnlvphrsyv
      361 stmilevvkn svhswdhvtq glvelgfilm dsygpkkvld gktietspsl srmpnqhack
      421 lganilletf kihemirqei leqvlnrvvt rasspishfl dllsnivmya plvlqscssk
      481 vteafdylsf lplqtvqrll kavqpllkvs msmrdclilv lrkamfanql darksavagf
      541 llllknfkvl gslsssqcsq slsvsqvhvd vhshynsvan etfcleimds lrrclsqqad
      601 vrlmlyegfy dvlrrnsqla nsvmqtllsq lkqfyepkpd llpplkleac iltqgdkisl
      661 qepldyllcc iqhclawykn tviplqqgee eeeeeeafye dlddilesit nrmikseled
      721 feldksadfs qstsigiknn icaflvmgvc evlieynfsi ssfrvllwry tsiptsvees
      781 gkkekgksis llcleglqki fsavqqfyqp kiqqflrald vtdkegeere dadvsvtqrt
      841 afqirqfqrs llnllssqee dfnskealll vtvltslskl lepsspqfvq mlswtskick
      901 ensredalfc kslmnllfsl hvsykspvil lrdlsqdihg hlgdidqdve vektnhfaiv
      961 nlrtaaptvc llvlsqaekv leevdwlitk lkgqvsqetl seeassqatl pnqpvekaii
     1021 mqlgtlltff helvqtalps gscvdtllkd lckmyttlta lvryylqvcq ssggipknme
     1081 klvklsgshl tplcysfisy vqnkskslny tgekkekpaa vatamarvlr etkpipnlif
     1141 aieqyekfli hlskkskvnl mqhmklstsr dfkikgnild mvlredgede neegtasehg
     1201 gqnkepakkk rkk
//
LOCUS       XP_054234396             695 aa            linear   PRI 20-MAR-2023
DEFINITION  multiple C2 and transmembrane domain-containing protein 2 isoform
            X2 [Homo sapiens].
ACCESSION   XP_054234396
VERSION     XP_054234396.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378421.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..695
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..695
                     /product="multiple C2 and transmembrane domain-containing
                     protein 2 isoform X2"
                     /calculated_mol_wt=78298
     CDS             1..695
                     /gene="MCTP2"
                     /coded_by="XM_054378421.1:170..2257"
                     /db_xref="GeneID:55784"
                     /db_xref="HGNC:HGNC:25636"
                     /db_xref="MIM:616297"
ORIGIN      
        1 mdldkpsvwg slkqrtrpll inlskkkvkk npskppdlra rhhldrrlsl svpdlleaea
       61 lapegrpysg pqssytsvps slstagifpk ssssslkqse eeldwsqeea shlhvvetds
      121 eeayaspaer rrvssngifd lqktslggda peepeklcgs sdlnasmtsq hfeeqsvpge
      181 asdglsnlps pfaylltihl kegrnlvvrd rcgtsdpyvk fklngktlyk skviyknlnp
      241 vwdeivvlpi qsldqklrvk vydrdlttsd fmgsafvils dlelnrtteh ilkledpnsl
      301 eddmgvivln lnlvvkqgdf krhrwsnrkr lsasksslir nlrlseslkk nqlwngiisi
      361 tllegknvsg gsmtemfvql klgdqryksk tlcksanpqw qeqfdfhyfs drmgildiev
      421 wgkdnkkhee rlgtckvdis alplkqancl elpldsclga llmlvtltpc agvsvsdlcv
      481 cpladlserk qitqryclqn slkdvkdvgi lqvkvlkaad llaadfsgks dpfcllelgn
      541 drlqthtvyk nlnpewnkvf tfpikdihdv levtvfdedg dkppdflgkv aipllsirdg
      601 qpncyvlknk dleqafkgvi ylemdliynp vkasirtftp rekrfvedsr klskkilsrd
      661 vdrvkritma iwntmqflks cfqwestlrs tiafa
//
LOCUS       XP_054235409             377 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase PRDM7 isoform X2 [Homo sapiens].
ACCESSION   XP_054235409
VERSION     XP_054235409.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379434.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..377
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..377
                     /product="histone-lysine N-methyltransferase PRDM7 isoform
                     X2"
                     /calculated_mol_wt=42318
     CDS             1..377
                     /gene="PRDM7"
                     /gene_synonym="PFM4; ZNF910"
                     /coded_by="XM_054379434.1:192..1325"
                     /db_xref="GeneID:11105"
                     /db_xref="HGNC:HGNC:9351"
                     /db_xref="MIM:609759"
ORIGIN      
        1 mspersqees pegdterter kpmvkdafkd isiyftkeew aemgdwektr yrnvkmnyna
       61 litvglratr pafmchrrqa iklqvddtee sdeewtprqq vkppwmafrg eqskhqkgmp
      121 kasfnnessl relsgtpnll ntsdseqaqk pvsppgeast sgqhsrlkle lrrketegkm
      181 yslrerkgha ykeisepqdd dylycemcqn ffidscaahg pptfvkdsav dkghpnrsal
      241 slppglrigp sgipqaglgv wneasdlplg lhfgpyegri tedeeaansg yswlitkgrn
      301 cyeyvdgkdk ssanwmrtka rdpsmslmls glfkskisqs tcgtqsllse lprtickkts
      361 ptreslprgs esgaaif
//
LOCUS       XP_054235648             242 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-34 isoform X1 [Homo sapiens].
ACCESSION   XP_054235648
VERSION     XP_054235648.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379673.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..242
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..242
                     /product="interleukin-34 isoform X1"
                     /calculated_mol_wt=27351
     CDS             1..242
                     /gene="IL34"
                     /gene_synonym="C16orf77; IL-34"
                     /coded_by="XM_054379673.1:498..1226"
                     /db_xref="GeneID:146433"
                     /db_xref="HGNC:HGNC:28529"
                     /db_xref="MIM:612081"
ORIGIN      
        1 mprgftwlry lgiflgvalg neplemwplt qneectvtgf lrdklqyrsr lqymkhyfpi
       61 nykisvpyeg vfrianvtrl qraqvserel rylwvlvsls atesvqdvll eghpswkylq
      121 evetlllnvq qgltdvevsp kvesvlslln apgpnlklvr pkalldncfr vmellycscc
      181 kqssvlnwqd cevpspqscs pepslqyaat qlyppppwsp sspphstgsv rpvraqgegl
      241 lp
//
LOCUS       XP_054169812             687 aa            linear   PRI 20-MAR-2023
DEFINITION  uromodulin isoform X1 [Homo sapiens].
ACCESSION   XP_054169812
VERSION     XP_054169812.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313837.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..687
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..687
                     /product="uromodulin isoform X1"
                     /calculated_mol_wt=74556
     CDS             1..687
                     /gene="UMOD"
                     /gene_synonym="ADMCKD2; ADTKD1; FJHN; HNFJ; HNFJ1; MCKD2;
                     THGP; THP"
                     /coded_by="XM_054313837.1:148..2211"
                     /db_xref="GeneID:7369"
                     /db_xref="HGNC:HGNC:12559"
                     /db_xref="MIM:191845"
ORIGIN      
        1 mgqpsltwml mvvvaswfit taatdtsear wcsechsnat ctedeavttc tcqegftgdg
       61 ltcvdldeca ipgahncsan sscvntpgsf scvcpegfrl spglgctdvd ecaepglshc
      121 halatcvnvv gsylcvcpag yrgdgwhcec spgscgpgld cvpegdalvc adpcqahrtl
      181 deywrsteyg egyacdtdlr gwyrfvgqgg armaetcvpv lrcntaapmw lngthpssde
      241 givsrkacah wsghcclwda svqvkacagg yyvynltapp echlayctdp ssvegtceec
      301 sidedcksnn grwhcqckqd fnitdislle hrlecgandm kvslgkcqlk slgfdkvfmy
      361 lsdsrcsgfn drdnrdwvsv vtpardgpcg tvltrnetha tysntlylad eiiirdlnik
      421 infacsypld mkvslktalq pmvsqtqerm lgtdegaqlt wrkkgahckl lagtspglav
      481 swsnvapssa calnirvggt gmftvrmalf qtpsytqpyq gssvtlstea flyvgtmldg
      541 gdlsrfallm tncyatpssn atdplkyfii qdrcphtrds tiqvvenges sqgrfsvqmf
      601 rfagnydlvy lhcevylcdt mnekckptcs gtrfrsgsvi dqsrvlnlgp itrkgvqatv
      661 srafsslgll kvwlplllsa tltltfq
//
LOCUS       XP_054175905             569 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 583 isoform X3 [Homo sapiens].
ACCESSION   XP_054175905
VERSION     XP_054175905.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319930.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..569
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..569
                     /product="zinc finger protein 583 isoform X3"
                     /calculated_mol_wt=65902
     CDS             1..569
                     /gene="ZNF583"
                     /coded_by="XM_054319930.1:209..1918"
                     /db_xref="GeneID:147949"
                     /db_xref="HGNC:HGNC:26427"
ORIGIN      
        1 mskdlvtfgd vavnfsqeew ewlnpaqrnl yrkvmlenyr slvslgvsvs kpdvislleq
       61 gkepwmvkke gtrgpcpdwe yvfknsefss kqetyeessk vvtvgarhls ysldypslre
      121 dcqsedwykn qlgsqevhls qliithkeil pevqnkeynk swqtfhqdti fdiqqsfptk
      181 ekahkhepqk ksyrkksvem khrkvyvekk llkcndcekv fnqsssltlh qrihtgekpy
      241 acvecgktfs qsanlaqhkr ihtgekpyec kecrkafsqn ahlaqhqrvh tgekpyqcke
      301 ckkafsqiah ltqhqrvhtg erpfeciecg kafsngsfla qhqrihtgek pyvcnvcgka
      361 fshrgylivh qrihtgerpy eckecrkafs qyahlaqhqr vhtgekpyec kvcrkafsqi
      421 ayldqhqrvh tgekpyecie cgkafsnsss laqhqrshtg ekpymckecr ktfsqnagla
      481 qhqrihtgek pyecnvcgka fsysgsltlh qrihtgerpy eckdcrksfr qrahlahher
      541 ihtmesfltl sspspstsnq lprpvgfis
//
LOCUS       XP_054178253             381 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein neuro-d4 isoform X6 [Homo sapiens].
ACCESSION   XP_054178253
VERSION     XP_054178253.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322278.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..381
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..381
                     /product="zinc finger protein neuro-d4 isoform X6"
                     /calculated_mol_wt=43067
     CDS             1..381
                     /gene="DPF1"
                     /gene_synonym="BAF45b; NEUD4; neuro-d4; SMARCG1"
                     /coded_by="XM_054322278.1:106..1251"
                     /db_xref="GeneID:8193"
                     /db_xref="HGNC:HGNC:20225"
                     /db_xref="MIM:601670"
ORIGIN      
        1 mataiqnplk slgedfyrea iehcrsynar lcaerslrlp fldsqtgvaq nncyiwmekt
       61 hrgpglapgq iytyparcwr kkrrlniled prlrpceyki dceaplkkeg glpegpvlea
      121 llcaetgekk ielkeeetim dcqkqqllef phdlevedle ddiprrknra kgkaygiggl
      181 rkrqdtasle drdkpyvcdi cgkryknrpg lsyhyththl aeeegeenae rhalpfhrkn
      241 nhkpkkapdg tvipngycdf clggskktgc pedliscadc grsghpsclq ftvnmtaavr
      301 tyrwqcieck scslcgtsen dgaswagltp qdqllfcddc drgyhmycls ppmaeppegs
      361 wschlclrhl kekasayitl t
//
LOCUS       XP_054196038             223 aa            linear   PRI 20-MAR-2023
DEFINITION  bcl-2-like protein 11 isoform X6 [Homo sapiens].
ACCESSION   XP_054196038
VERSION     XP_054196038.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340063.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..223
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..223
                     /product="bcl-2-like protein 11 isoform X6"
                     /calculated_mol_wt=24616
     CDS             1..223
                     /gene="BCL2L11"
                     /gene_synonym="BAM; BIM; BOD"
                     /coded_by="XM_054340063.1:243..914"
                     /db_xref="GeneID:10018"
                     /db_xref="HGNC:HGNC:994"
                     /db_xref="MIM:603827"
ORIGIN      
        1 msdsdsrtek rkkkkdqmak qpsdvssecd regrqlqpae rppqlrpgap tslqtepqgn
       61 pegnhggegd scphgspqgp lappaspgpf atrsplfifm rrssllsrss sgyfsfdtdr
      121 spapmscdks tqtpsppcqa fnhylsamas mrqaepadmr peiwiaqelr rigdefnayy
      181 arrvmmfslp aflltpspst lyffkktvts cnymlilemi tva
//
LOCUS       XP_054197045             924 aa            linear   PRI 20-MAR-2023
DEFINITION  myelin transcription factor 1-like protein isoform X15 [Homo
            sapiens].
ACCESSION   XP_054197045
VERSION     XP_054197045.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341070.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..924
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..924
                     /product="myelin transcription factor 1-like protein
                     isoform X15"
                     /calculated_mol_wt=104206
     CDS             1..924
                     /gene="MYT1L"
                     /gene_synonym="MRD39; myT1-L; NZF1; ZC2H2C2; ZC2HC4B"
                     /coded_by="XM_054341070.1:830..3604"
                     /db_xref="GeneID:23040"
                     /db_xref="HGNC:HGNC:7623"
                     /db_xref="MIM:613084"
ORIGIN      
        1 mevdteekrh rtrskgvrvp vepaiqelfs cptpgcdgsg hvsgkyarhr svygcplakk
       61 rktqdkqpqe papkrkpfav kadsssvdec ddsdgtedmd ekeedegeey sedndepgde
      121 deedeegdre eeeeieeede dddedgedve deeeeeeeee eeeeeeened hqmnchntri
      181 mqdtekddnn ndeydnydel vaksllnlgk iaedaayrar tesemnsnts nsleddsdkn
      241 enlgrksels ldldsdvvre tvdslkllaq ghgvvlsenm ndrnyadsms qqdsrnmnyv
      301 mlgkpmnngl mekmveesde evclsslecl rnqcfdlark lsetnpqern pqqnmnirqh
      361 vrpeedfpgr tpdrnysdml nlmrleeqls prsrvfasca kedgcherdd dttsvnsdrs
      421 eevfdmtkgn ltllekaial eterakamre kmameagrrd nmrsyedqsp rqlpgedrkp
      481 kssdshvkkp yygkdpsrte kkeskcptpg cdgtghvtgl yphhrslsgc phkdrvppei
      541 lamhesvlkc ptpgctgrgh vnsnrnshrs lsgcpiaaae klakaqekhq scdvskssqa
      601 sdrvlrpmcf vkqleipqyg yrnnvptttp rsnlakelek ysktsfeyns ydnhtygkra
      661 iapkvqtrdi spkgyddakr yckdpspsss stssyapsss snlscgggss asstcskssf
      721 dythdmeaah maatailnls trcrempqnl stkpqdlcat rnpdmevden gtldlsmnkq
      781 rprdsccpil tplepmspqq qavmnnrcfq lgegdcwdlp vdytkmkprr idedeskdit
      841 pedldpfqea leerrypgev tipspkpkyp qckeskkdli tlsgcpladk sirsmlatss
      901 qelkipvqgp raldhllmfs dfln
//
LOCUS       XP_054197769             130 aa            linear   PRI 20-MAR-2023
DEFINITION  formiminotransferase N-terminal subdomain-containing protein
            isoform X9 [Homo sapiens].
ACCESSION   XP_054197769
VERSION     XP_054197769.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341794.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..130
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..130
                     /product="formiminotransferase N-terminal
                     subdomain-containing protein isoform X9"
                     /calculated_mol_wt=14122
     CDS             1..130
                     /gene="FTCDNL1"
                     /gene_synonym="FONG"
                     /coded_by="XM_054341794.1:461..853"
                     /db_xref="GeneID:348751"
                     /db_xref="HGNC:HGNC:48661"
                     /db_xref="MIM:614308"
ORIGIN      
        1 msssrvglrl aacllnvsea grkyivenia kaalldkngk khpqvsvlni fsdqdykrsv
       61 itiatsvdkl ggevlpyeiv safkspscli pgqdyqkqwt satkpkgkcc cevdiqepee
      121 graihrmdlg
//
LOCUS       XP_054201640             611 aa            linear   PRI 20-MAR-2023
DEFINITION  5-aminolevulinate synthase, non-specific, mitochondrial isoform X1
            [Homo sapiens].
ACCESSION   XP_054201640
VERSION     XP_054201640.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345665.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..611
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..611
                     /product="5-aminolevulinate synthase, non-specific,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=67271
     CDS             1..611
                     /gene="ALAS1"
                     /gene_synonym="ALAS; ALAS-H; ALAS3; ALASH; MIG4"
                     /coded_by="XM_054345665.1:321..2156"
                     /db_xref="GeneID:211"
                     /db_xref="HGNC:HGNC:396"
                     /db_xref="MIM:125290"
ORIGIN      
        1 mdewlllhld epayflnmes vvrrcpflsr vpqaflqkag ksllfyaqnc pkmmevgakp
       61 apralstaav hyqqiketpp asekdktaka kvqqtpdgsq qspdgtqlps ghplpatsqg
      121 taskcpflaa qmnqrgssvf ckaslelqed vqemnavrke vaetsagpsv vsvktdggdp
      181 sgllknfqdi mqkqrpervs hllqdnlpks vstfqydrff ekkidekknd htyrvfktvn
      241 rrahifpmad dysdslitkk qvsvwcsndy lgmsrhprvc gavmdtlkqh gagaggtrni
      301 sgtskfhvdl ereladlhgk daallfsscf vandstlftl akmmpgceiy sdsgnhasmi
      361 qgirnsrvpk yifrhndvsh lrellqrsdp svpkivafet vhsmdgavcp leelcdvahe
      421 fgaitfvdev havglygarg ggigdrdgvm pkmdiisgtl gkafgcvggy iastsslidt
      481 vrsyaagfif ttslppmlla galesvrilk saegrvlrrq hqrnvklmrq mlmdaglpvv
      541 hcpshiipvr vadaakntev cdelmsrhni yvqainyptv prgeellria ptphhtpqmm
      601 nyflvspqri c
//
LOCUS       XP_054201788             745 aa            linear   PRI 20-MAR-2023
DEFINITION  FERM domain-containing protein 4B isoform X8 [Homo sapiens].
ACCESSION   XP_054201788
VERSION     XP_054201788.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345813.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..745
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..745
                     /product="FERM domain-containing protein 4B isoform X8"
                     /calculated_mol_wt=84321
     CDS             1..745
                     /gene="FRMD4B"
                     /gene_synonym="6030440G05Rik; GRSP1"
                     /coded_by="XM_054345813.1:2718..4955"
                     /db_xref="GeneID:23150"
                     /db_xref="HGNC:HGNC:24886"
                     /db_xref="MIM:617467"
ORIGIN      
        1 msrlfqwkql enlyfrekkf avevhdprri svsrrtfgqs glfvqtwyan ssliksiwvm
       61 aisqhqfyld rkqskakips arsldeiamd ltetgtqras klvtleaksq fimasngsli
      121 ssgsqdsevs eeqkrekile lkkkekllqe kllkkveelk kiclreaelt gkmpkeypln
      181 igekppqvrr rvgtafkldd nllpseedpa lqelesnfli qqklveaakk lanepdlckt
      241 vkkkrkqdyt damkklqeie naineyrirc gkkpsqkatv lpediipses sslsdtttyd
      301 dpsdaftfpg qrsssvphsp rilppkslgi erihfrkssi neqfvdtrqs remlsthssp
      361 yktlerrpqg grsmpttpvl trnayssshl epesssqhcr qrsgslesqs hllsemdsdk
      421 pffslsksqr sssteilddg ssytsqsste yycvtpvtgp yyttqtldtr trgrrrskkq
      481 nvstsnsgsm pnlaqkdslr ngvysksqep psssyyiagy tpyaecdfyy sggyvyendt
      541 egqysvnpsy rssahygyer qrdysrsfhe devdrvphnp yatlrlprka aaksehitkn
      601 ihkalvaehl rgwyqrasgq kdqghspqts fdsdrgsqrc lgfaglqvpc spssraslys
      661 svsstnasgn wrtqltigls dyetpahssy tscygnvynp lpspsrqyte isqldgtdgn
      721 qlednlesse qrlfwhedsk pgtlv
//
LOCUS       XP_054202087             541 aa            linear   PRI 20-MAR-2023
DEFINITION  nectin-3 isoform X2 [Homo sapiens].
ACCESSION   XP_054202087
VERSION     XP_054202087.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346112.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..541
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..541
                     /product="nectin-3 isoform X2"
                     /calculated_mol_wt=59821
     CDS             1..541
                     /gene="NECTIN3"
                     /gene_synonym="CD113; CDW113; NECTIN-3; PPR3; PRR3; PVRL3;
                     PVRR3"
                     /coded_by="XM_054346112.1:203..1828"
                     /db_xref="GeneID:25945"
                     /db_xref="HGNC:HGNC:17664"
                     /db_xref="MIM:607147"
ORIGIN      
        1 martlrpspl cpgggkaqls sasllgagll lqpptpppll lllfplllfs rlcvwhpgdc
       61 fscktidcpp fillnklsre dllhcalagp iivephvtav wgknvslkcl ievnetitqi
      121 swekihgkss qtvavhhpqy gfsvqgeyqg rvlfknysln datitlhnig fsdsgkyick
      181 avtfplgnaq ssttvtvlve ptvslikgpd slidggnetv aaiciaatgk pvahidwegd
      241 lgemesttts fpnetatiis qyklfptrfa rgrritcvvk hpalekdiry sfildiqyap
      301 evsvtgydgn wfvgrkgvnl kcnadanppp fksvwsrldg qwpdgllasd ntlhfvhplt
      361 fnysgvyick vtnslgqrsd qkviyisdvp fkqtssiava gavigavlal fiiaifvtvl
      421 ltprkkrpsy ldkvidlppt hkppplyeer spplpqkdlf qpehlplqtq fkerevgnlq
      481 hsnglnsrsf dyedenpvge dgiqqmyply nqmcyqdrsp gkhhqnndpk rvyidprehy
      541 v
//
LOCUS       XP_054204095             703 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-17 receptor C isoform X23 [Homo sapiens].
ACCESSION   XP_054204095
VERSION     XP_054204095.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348120.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..703
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..703
                     /product="interleukin-17 receptor C isoform X23"
                     /calculated_mol_wt=76695
     CDS             1..703
                     /gene="IL17RC"
                     /gene_synonym="CANDF9; IL17-RL; IL17RL"
                     /coded_by="XM_054348120.1:219..2330"
                     /db_xref="GeneID:84818"
                     /db_xref="HGNC:HGNC:18358"
                     /db_xref="MIM:610925"
ORIGIN      
        1 mpvpwfllsl algrspvvls lerlvgpqda thcspglscr lwdsdilclp gdivpapgpv
       61 lapthlqtel vlrcqketdc dlclrvavhl avhghweepe deekfggaad lgveeprnas
      121 lqaqvvlsfq ayptarcvll evqvpaalvq fgqsvgsvvy dcfeaalgse vriwsytqpr
      181 yekelnhtqq lpdcrglevw nsipscwalp wlnvsadgdn vhlvlnvsee qhfglslywn
      241 qvqgppkprw hknltgpqii tlnhtdlvpc lciqvwplep dsvrtnicpf redprahqnl
      301 wqaarlrllt lqswlldapc slpaeaalcw rapggdpcqp lvpplswenv tvdvnssekl
      361 qlqeclwads lgplkddvll letrgpqdnr slcalepsgc tslpskastr aarlgeyllq
      421 dlqsgqclql wdddlgalwa cpmdkyihkr walvwlacll faaalslill lkkdhakgwl
      481 rllkqdvrsg aaargraall lysaddsgfe rlvgalasal cqlplrvavd lwsrrelsaq
      541 gpvawfhaqr rqtlqeggvv vllfspgava lcsewlqdgv sgpgahgphd afraslscvl
      601 pdflqgrapg syvgacfdrl lhpdavpalf rtvpvftlps qlpdflgalq qpraprsgrl
      661 qeraeqvsra lqpaldsyfh ppgtpapgrg vgpgagpgag dgt
//
LOCUS       XP_054212346             919 aa            linear   PRI 20-MAR-2023
DEFINITION  epithelial discoidin domain-containing receptor 1 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054212346
VERSION     XP_054212346.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356371.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..919
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..919
                     /product="epithelial discoidin domain-containing receptor
                     1 isoform X5"
                     /calculated_mol_wt=101666
     CDS             1..919
                     /gene="DDR1"
                     /gene_synonym="CAK; CD167; DDR; EDDR1; HGK2; MCK10; NEP;
                     NTRK4; PTK3; PTK3A; RTK6; TRKE"
                     /coded_by="XM_054356371.1:428..3187"
                     /db_xref="GeneID:780"
                     /db_xref="HGNC:HGNC:2730"
                     /db_xref="MIM:600408"
ORIGIN      
        1 mgpealssll llllvasgda dmkghfdpak cryalgmqdr tipdsdisas sswsdstaar
       61 hsrlessdgd gawcpagsvf pkeeeylqvd lqrlhlvalv gtqgrhaggl gkefsrsyrl
      121 rysrdgrrwm gwkdrwgqev isgnedpegv vlkdlgppmv arlvrfypra drvmsvclrv
      181 elygclwrdg llsytapvgq tmylseavyl ndstydghtv gglqygglgq ladgvvgldd
      241 frksqelrvw pgydyvgwsn hsfssgyvem efefdrlraf qamqvhcnnm htlgarlpgg
      301 vecrfrrgpa mawegepmrh nlggnlgdpr aravsvplgg rvarflqcrf lfagpwllfs
      361 eisfisdvvn nsspalggtf ppapwwppgp pptnfsslel eprgqqpvak aegsptaili
      421 gclvaiilll lliialmlwr lhwrrllska errvleeelt vhlsvpgdti linnrpgpre
      481 pppyqeprpr gnpphsapcv pngsalllsn payrlllaty arpprgpgpp tpawakptnt
      541 qaysgdymep ekpgapllpp ppqnsvphya eadivtlqgv tggntyavpa lppgavgdgp
      601 prvdfprsrl rfkeklgegq fgevhlcevd spqdlvsldf plnvrkghpl lvavkilrpd
      661 atknasfslf srndflkevk imsrlkdpni irllgvcvqd dplcmitdym engdlnqfls
      721 ahqledkaae gapgdgqaaq gptisypmll hvaaqiasgm rylatlnfvh rdlatrnclv
      781 genftikiad fgmsrnlyag dyyrvqgrav lpirwmawec ilmgkfttas dvwafgvtlw
      841 evlmlcraqp fgqltdeqvi enageffrdq grqvylsrpp acpqglyelm lrcwsreseq
      901 rppfsqlhrf laedalntv
//
LOCUS       XP_054214370             540 aa            linear   PRI 20-MAR-2023
DEFINITION  protein PALS2 isoform X1 [Homo sapiens].
ACCESSION   XP_054214370
VERSION     XP_054214370.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358395.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..540
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..540
                     /product="protein PALS2 isoform X1"
                     /calculated_mol_wt=60986
     CDS             1..540
                     /gene="PALS2"
                     /gene_synonym="MPP6; p55T; VAM-1; VAM1"
                     /coded_by="XM_054358395.1:148..1770"
                     /db_xref="GeneID:51678"
                     /db_xref="HGNC:HGNC:18167"
                     /db_xref="MIM:606959"
ORIGIN      
        1 mqqvlenlte lpsstgaeei dliflkgime npivkslaka herledskle avsdnnlelv
       61 neileditpl invdenvael vgilkephfq slleahdiva skcydsppss pemnnssinn
      121 qllpvdairi lgihkragep lgvtfrvenn dlviarilhg gmidrqgllh vgdiikevng
      181 hevgnnpkel qellknisgs vtlkilpsyr dtitpqqvfv kchfdynpyn dnlipckeag
      241 lkfskgeilq ivnredpnww qashvkeggs aglipsqfle ekrkafvrrd wdnsgpfcgt
      301 isskkkkkmm ylttrnaefd rheiqiyeev akmppfqrkt lvligaqgvg rrslknrfiv
      361 lnptrfgttv pftsrkpred ekdgqaykfv srsemeadik agkylehgey egnlygtkid
      421 silevvqtgr tcildvnpqa lkvlrtsefm pyvvfiaape letlramhka vvdagittkl
      481 ltdsdlkktv desariqray nhyfdliiin dnldkafekl qtaieklrme pqwvpiswvy
//
LOCUS       XP_054216511            1410 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM135B isoform X1 [Homo sapiens].
ACCESSION   XP_054216511
VERSION     XP_054216511.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360536.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1410
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1410
                     /product="protein FAM135B isoform X1"
                     /calculated_mol_wt=156062
     CDS             1..1410
                     /gene="FAM135B"
                     /gene_synonym="C8ORFK32"
                     /coded_by="XM_054360536.1:611..4843"
                     /db_xref="GeneID:51059"
                     /db_xref="HGNC:HGNC:28029"
ORIGIN      
        1 mseiqgtvef svelhkfynv dlfqrgyyqi rvtlkvssri phrlsasiag qtessslhsa
       61 cvhdstvhsr vfqilyrnee vpindavvfr vhlllggerm edalsevdfq lkvdlhftds
      121 eqqlrdvaga pmvssrtlgl hfhprnglhh qvpvmfdyfh lsvisvtvha alvalqqpli
      181 sftrpgrgsw lgkggpdtgq eqsiislenl vfgagyckpt ssegsfyits encmqhahkw
      241 hrdlcllllh ayrglrlhfl vimrdipelp htelealave etlsqlcsel qmlnnpekia
      301 eqiskdlawl tshmmtlwtq fldtvtlhsq vttyltqehh tlrvrrfsea ffymehqkla
      361 vltfqenliq thsqlsldir nseyltsmpp lpaecldidg dwntlpvife dryvdcpatg
      421 hnlsvypnfd vpvtsptimn lkdkedncmv nsnlsfredl vlstikpsqm dsdeevvrcp
      481 elgenvatqn hmdmcsesqv yisigefqnk agvpedecwt gqtsdagtyp vadvdtsrrs
      541 pgpedgqapv ltyidvkssn knpsraeplv afnaqhesrs srdkygldrt glskvvvggs
      601 hqnaissdkt tlhelstlgk gidqegkmvl lslkltpsep cdplsstlre pldirsslkd
      661 shteeqeels vlsgvikrss siisdsgies epssvawsea rsralelpsd revlhpfvrr
      721 halhrnsleg ghtesntslp sgiqasltsi sslpfeeder evaltkltks vsaphisspe
      781 eaaedadtkq qdggfaepsd mhsksqgspg scsqlcgdsg tdagadhplv eivldadnqq
      841 gpgyidipkg kgkqfdaqgh clpdgrtent pgvetkglnl kiprvialen prtrslhral
      901 eetpkgmpkd lnvgqqalsn sgisevegls qhqvpelsct saadainrns tgqqsqsgsp
      961 cimddtafnr gvnafpeakh kagtvcptvt hsvhsqvlkn qelkagtsim gshltsaetf
     1021 tldslkavev vnlsvsctat clpfssvpke tparagfssk qtlfpithqp lgsfgvvsth
     1081 sstldeevse rmfsvfssfy qakekfkkel kiegflysdl tvlasdipyf ppeeeeenle
     1141 dgihlvvcvh gldgnsadlr lvktfielgl pggkldflms eknqmdtfad fdtmtdrlld
     1201 eiiqhiqlyn lsisrisfig hslgniiirs vltrprfryy lnklhtflsl sgphlgtlyn
     1261 nstlvstglw lmqklkksgs llqltfrdna dlrkcflyql sqktglqyfk nvvlvaspqd
     1321 ryvpfhsari emcktalkdr htgpvyaemi nnllgplvea kdctlirhnv fhalpntant
     1381 ligraahiav ldselflekf flvaglnyfk
//
LOCUS       XP_054217825            1635 aa            linear   PRI 20-MAR-2023
DEFINITION  centriolin isoform X26 [Homo sapiens].
ACCESSION   XP_054217825
VERSION     XP_054217825.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361850.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1635
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1635
                     /product="centriolin isoform X26"
                     /calculated_mol_wt=187595
     CDS             1..1635
                     /gene="CNTRL"
                     /gene_synonym="bA165P4.1; CEP1; CEP110; FAN"
                     /coded_by="XM_054361850.1:318..5225"
                     /db_xref="GeneID:11064"
                     /db_xref="HGNC:HGNC:1858"
                     /db_xref="MIM:605496"
ORIGIN      
        1 mkkgsqqkif skakipsssh spipssmsnm rsrslsplig setlpfhsgg qwceqveiad
       61 ennmlldyqd hkgadshagv ryitealikk ltkqdnlali kslnlslskd ggkkfkyien
      121 lekcvklevl nlsynligki ekldkllklr elnlsynkis kiegienmcn lqklnlagne
      181 iehipvwlgk klkslrvlnl kgnkisslqd isklkplqdl islilvenpv vtlphylqft
      241 ifhlrslesl egqpvttqdr qeaferfsle everlerdle kkmieteelk skqtrfleei
      301 knqdklnksl keeamlqkqs ceelksdlnt knelyaeidk apdespyigk srykrnmfat
      361 esyiidsaqa vqikkmepde qlrndhmnlr ghtpldtqle dkekkisaaq trlselhdei
      421 ekaeqqilra teefkqleea iqlkkealdl elqmekqkqe iagkqkeikd lqiaidslds
      481 kdpkhshmka qksgkeqqld imnkqyqqle srldeilsri aketeeikdl eeqltegqia
      541 anealkkdle gvisglqeyl gtikgqatqa qnecrklrde ketllqrlte veqerdqlei
      601 vamdaenmrk elaelesalq eqhevnaslq qtqgdlsaye aelearlnlr daeanqlkee
      661 lekvtrltql eqsalqaele kerqalknal gkaqfseeke qenselhakl khlqddnnll
      721 kqqlkdfqnh lnhvvdglvr peevaarvde lrrklklgtg emnihspsdv lgksladlqk
      781 qfseilarsk werdeaqvre rklqeemalq qeklatgqee frqacerale armnfdkrqh
      841 eariqqmene ihylqenlks meeiqgltdl qlqeadeeke rilaqlrele kkkkledaks
      901 qeqvfgldke lkklkkavat sdklataelt iakdqlkslh gtvmkinqer aeelqeaerf
      961 srkaaqaard ltraeaeiel lqnllrqkge qfrlemektg vgtgansqvl eieklnetme
     1021 rqrteiarlq nvldltgsdn kggfenvlee iaelrrevsy qndyissmad pfkrrgywyf
     1081 mppppsskvs shssqatkds gvglkysast pvrkprpgqq dgkegsqppp asgywvyspi
     1141 rsglhklfps rdadsggdsq eeselddqee ppfvpppgym mytvlpdgsp vpqgmalyap
     1201 ppplpnnsrp ltpgtvvygp ppagapmvyg ppppnfsipf ipmgvlhcnv pehhnlenev
     1261 srledimqhl kskkreerwm raskrqseke meelhhnidd llqekkslec eveelhrtvq
     1321 krqqqkdfid gnveslmtel eiekslkhhe divdeiecie ktllkrrsel readrllaea
     1381 eselsctkek tknavekftd akrsllqtes daeelerraq etavnlvkad qqlrslqada
     1441 kdleqhkikq eeilkeinki vaakdsdfqc lskkkeklte elqklqkdie maernedhhl
     1501 qvlkesevll qakraelekl ksqvtsqqqe mavldrqlgh kkeelhllqg smvqakadlq
     1561 ealrlgetev tekcnhirev kslleelsfq kgelnvqise rktqltlikq eiekeeenlq
     1621 vvlrqmskhk taflq
//
LOCUS       XP_054218089            2188 aa            linear   PRI 20-MAR-2023
DEFINITION  FRAS1-related extracellular matrix protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054218089
VERSION     XP_054218089.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362114.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2188
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2188
                     /product="FRAS1-related extracellular matrix protein 1
                     isoform X1"
                     /calculated_mol_wt=245183
     CDS             1..2188
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /coded_by="XM_054362114.1:575..7141"
                     /db_xref="GeneID:158326"
                     /db_xref="HGNC:HGNC:23399"
                     /db_xref="MIM:608944"
ORIGIN      
        1 mnslswgaan avllllllaw asptfisinr gvrvmkghsa flsgddlkfa ipkekdackv
       61 evvmnepitq rvgkltpqvf dchflpnevk yvhngcpild edtvklrlyr fterdtfiet
      121 filwvyllep dcniihmsnn vlevpefngl sqaidknllr fdydrmasle ctvsldtart
      181 rlpahgqmvl geprpeeprg dqphsffpes rmmsfnafle lraklkcpgg sctpglkkig
      241 slkvsceefl lmglryqhld ppspnidyis iqldltdtrs kivyksesaw lpvyiragip
      301 nqipkaafma vfilevdqfi ltslttsvld ceedetpkpl lvfnitkapl qgyvthlldh
      361 trpissftwk dlsdmqiayq ppnsshserr hdevelevyd fffersapmt vhisirtadt
      421 naprvswntg lsllegqsra itweqfqlvd nddigavrlv tvgglqhgwl tlrggkgflf
      481 tvadlqagvv ryhhddsdst kdfvvfrifd ghhsirhkfp invlpkddsp pflitnvvie
      541 leegqtiliq gsmlrasdvd asddyiffni tkppqageim kkpgpgligy pvhgflqrdl
      601 fngiiyyrhf ggeifedsfq fvlwdshepp nlsvpqvati hitpvddqlp keapgvsrhl
      661 vvketevayi tkkqlhfids esydrelvyt ittppffsfs hrhldagklf mvdsipkvvk
      721 nptalelrsf tqhavnymkv aymppmqdig phcrdvqftf svsnqhggtl hgicfnitil
      781 pvdnqvpeaf tnplkvtegg qsiistehil iydadtkldn idlslrelpl hgrvelngfp
      841 lnsggtfswg dlhtlkvryq hdgtevlqdd lllevtdgtn saefvlhvev fpvndeppvl
      901 kadlmpvmnc seggevvits eyifatdvds dnlklmfvia repqhgvvrr agvtvdqfsq
      961 rdviseavty khtggeiglm pcfdtitlvv sdgeagpfvn gccyngpnps vplhasfpvy
     1021 dlnitvypvd nqppsiaigp vfvvdegcst altvnhlsat dpdtaaddle fvlvsppqfg
     1081 ylenilpsvg feksnigisi dsfqwkdmna fhinyvqsrh lrieptadqf tvyvtdgkhh
     1141 sleipfsiii nptndeapdf vvqnitvceg qmkeldssii savdldipqd allfsitqkp
     1201 rhgllidrgf skdfsenkqp anphqkhapv hsfsmellkt gmrltymhdd sesladdfti
     1261 qlsdgkhkil ktisvevipv ndekpmlskk aeiamnmget riissailsa idedspreki
     1321 yyvferlpqn gqlqlkigrd wvplspgmkc tqeevdlnll rythtgamds qnqdsftfyl
     1381 wdgnnrspal dcqitikdme kgdiviltkp lvvskgdrgf lttttllavd gtdkpeelly
     1441 vitspprygq ieyvhypgvp itnfsqmdvv gqtvcyvhks kvtvssdrfr fiisnglrte
     1501 hgvfeitlet vdralpvvtr nkglrlaqga vgllspdllq ltdpdtpaen ltfllvqlpq
     1561 hgqlylwgtg llqhnftqqd vdsknvayrh sggdsqtdcf tfmatdgtnq gfivngrvwe
     1621 epvlftiqvd qldktaprit llhspsqvgl lkngcygiyi tsrvlkasdp dteddqiifk
     1681 ilqgpkhghl entttgefih ekfsqkdlns ktilyiinps levnsdtvef qimdptgnsa
     1741 tpqilelkws hiewsqteye vcenvgllpl eiirrgysmd safvgikvnq vsaavgkdft
     1801 vipskliqfd pgmstkmwni aitydgleed devfevilns pvnavlgtkt kaavkildsk
     1861 ggqchpsyss nqskhstwek giwhllppgs sssttsgsfh lerrplpssm qlavirgdtl
     1921 rgfdstdlsq rklrtrgngk tvrpssvyrn gtdiiynyhg ivslkledds fpthkrkakv
     1981 siisqpqkti kvaelpqadk vesttdshfp rqdqlpsfpk nctlelkglf hfeegiqkly
     2041 qcngiawkaw spqtkdvedk scpagwhqhs gychiliteq kgtwnaaaqa creqylgnlv
     2101 tvfsrqhmrw lwdiggrksf wiglndqvha ghwewiggep vaftngrrgp sprsklgksc
     2161 vlvqrqgkwq tkdcrrakph nyvcsrkl
//
LOCUS       NP_000537                393 aa            linear   PRI 25-MAR-2023
DEFINITION  cellular tumor antigen p53 isoform a [Homo sapiens].
ACCESSION   NP_000537
VERSION     NP_000537.3
DBSOURCE    REFSEQ: accession NM_000546.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 393)
  AUTHORS   Mirgayazova R, Khadiullina R, Chasov V, Mingaleeva R, Miftakhova R,
            Rizvanov A and Bulatov E.
  TITLE     Therapeutic Editing of the TP53 Gene: Is CRISPR/Cas9 an Option?
  JOURNAL   Genes (Basel) 11 (6), 704 (2020)
   PUBMED   32630614
  REMARK    GeneRIF: Therapeutic Editing of the TP53 Gene: Is CRISPR/Cas9 an
            Option?
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 393)
  AUTHORS   Flynt E, Bisht K, Sridharan V, Ortiz M, Towfic F and Thakurta A.
  TITLE     Prognosis, Biology, and Targeting of TP53 Dysregulation in Multiple
            Myeloma
  JOURNAL   Cells 9 (2), 287 (2020)
   PUBMED   31991614
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 393)
  AUTHORS   Barnoud T, Parris JLD and Murphy ME.
  TITLE     Common genetic variants in the TP53 pathway and their impact on
            cancer
  JOURNAL   J Mol Cell Biol 11 (7), 578-585 (2019)
   PUBMED   31152665
  REMARK    GeneRIF: Common genetic variants in the TP53 pathway and their
            impact on cancer.
            Review article
REFERENCE   4  (residues 1 to 393)
  AUTHORS   Hu W, Chen S, Thorne RF and Wu M.
  TITLE     TP53, TP53 Target Genes (DRAM, TIGAR), and Autophagy
  JOURNAL   Adv Exp Med Biol 1206, 127-149 (2019)
   PUBMED   31776983
  REMARK    Review article
REFERENCE   5  (residues 1 to 393)
  AUTHORS   Baugh EH, Ke H, Levine AJ, Bonneau RA and Chan CS.
  TITLE     Why are there hotspot mutations in the TP53 gene in human cancers?
  JOURNAL   Cell Death Differ 25 (1), 154-160 (2018)
   PUBMED   29099487
  REMARK    GeneRIF: TP53 missense mutant alleles that occur in human cancers
            are discussed in the context of high resolution models of these p53
            mutant protein structures to determine the structural features of
            mutations (review).
            Review article
REFERENCE   6  (residues 1 to 393)
  AUTHORS   Aubrey BJ, Strasser A and Kelly GL.
  TITLE     Tumor-Suppressor Functions of the TP53 Pathway
  JOURNAL   Cold Spring Harb Perspect Med 6 (5), a026062 (2016)
   PUBMED   27141080
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 393)
  AUTHORS   Soussi T and Wiman KG.
  TITLE     TP53: an oncogene in disguise
  JOURNAL   Cell Death Differ 22 (8), 1239-1249 (2015)
   PUBMED   26024390
  REMARK    Review article
REFERENCE   8  (residues 1 to 393)
  AUTHORS   Soussi,T.
  TITLE     The TP53 gene network in a postgenomic era
  JOURNAL   Hum Mutat 35 (6), 641-642 (2014)
   PUBMED   24753184
  REMARK    GeneRIF: Recommendations and guidelines for reporting and
            annotating TP53 variants are also provided, to help researchers
            generate standardized data that are easy to understand, analyze,
            and exchange across various cancer variant databases
            Review article
REFERENCE   9  (residues 1 to 393)
  AUTHORS   Anczukow O, Ware MD, Buisson M, Zetoune AB, Stoppa-Lyonnet D,
            Sinilnikova OM and Mazoyer S.
  TITLE     Does the nonsense-mediated mRNA decay mechanism prevent the
            synthesis of truncated BRCA1, CHK2, and p53 proteins?
  JOURNAL   Hum Mutat 29 (1), 65-73 (2008)
   PUBMED   17694537
  REMARK    GeneRIF: the p53 protein encoded by the 770delT allele is as
            abundant as the wild-type protein, as removal of the C-terminal p53
            domain leads to a stabilized mutant protein, whose abundance is
            markedly increased when NMD is inhibited.
REFERENCE   10 (residues 1 to 393)
  AUTHORS   Bourdon JC.
  TITLE     p53 Family isoforms
  JOURNAL   Curr Pharm Biotechnol 8 (6), 332-336 (2007)
   PUBMED   18289041
  REMARK    Review article
REFERENCE   11 (residues 1 to 393)
  AUTHORS   Candeias MM, Powell DJ, Roubalova E, Apcher S, Bourougaa K,
            Vojtesek B, Bruzzoni-Giovanelli H and Fahraeus R.
  TITLE     Expression of p53 and p53/47 are controlled by alternative
            mechanisms of messenger RNA translation initiation
  JOURNAL   Oncogene 25 (52), 6936-6947 (2006)
   PUBMED   16983332
  REMARK    GeneRIF: harbouring alternative translation initiation sites, the
            p53 mRNA gives rise to different levels of the p53 isoforms which
            help to orchestrate the cell biological outcome of p53 activation
REFERENCE   12 (residues 1 to 393)
  AUTHORS   Murray-Zmijewski F, Lane DP and Bourdon JC.
  TITLE     p53/p63/p73 isoforms: an orchestra of isoforms to harmonise cell
            differentiation and response to stress
  JOURNAL   Cell Death Differ 13 (6), 962-972 (2006)
   PUBMED   16601753
  REMARK    Review article
REFERENCE   13 (residues 1 to 393)
  AUTHORS   Bourdon JC, Fernandes K, Murray-Zmijewski F, Liu G, Diot A,
            Xirodimas DP, Saville MK and Lane DP.
  TITLE     p53 isoforms can regulate p53 transcriptional activity
  JOURNAL   Genes Dev 19 (18), 2122-2137 (2005)
   PUBMED   16131611
  REMARK    GeneRIF: p53 isoforms can regulate p53 transcriptional activity.
REFERENCE   14 (residues 1 to 393)
  AUTHORS   Ghosh A, Stewart D and Matlashewski G.
  TITLE     Regulation of human p53 activity and cell localization by
            alternative splicing
  JOURNAL   Mol Cell Biol 24 (18), 7987-7997 (2004)
   PUBMED   15340061
  REMARK    GeneRIF: mechanism of p53 regulation originating through
            alternative splicing of the human p53 gene resulting in the
            expression of a novel p53 mRNA
REFERENCE   15 (residues 1 to 393)
  AUTHORS   Flaman JM, Waridel F, Estreicher A, Vannier A, Limacher JM, Gilbert
            D, Iggo R and Frebourg T.
  TITLE     The human tumour suppressor gene p53 is alternatively spliced in
            normal cells
  JOURNAL   Oncogene 12 (4), 813-818 (1996)
   PUBMED   8632903
REFERENCE   16 (residues 1 to 393)
  AUTHORS   Schneider,K., Zelley,K., Nichols,K.E. and Garber,J.
  TITLE     Li-Fraumeni Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301488
REFERENCE   17 (residues 1 to 393)
  AUTHORS   Turner,J.T., Brzezinski,J. and Dome,J.S.
  TITLE     Wilms Tumor Predisposition
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301471
REFERENCE   18 (residues 1 to 393)
  AUTHORS   Lamb,P. and Crawford,L.
  TITLE     Characterization of the human p53 gene
  JOURNAL   Mol Cell Biol 6 (5), 1379-1385 (1986)
   PUBMED   2946935
REFERENCE   19 (residues 1 to 393)
  AUTHORS   Isobe,M., Emanuel,B.S., Givol,D., Oren,M. and Croce,C.M.
  TITLE     Localization of gene for human p53 tumour antigen to band 17p13
  JOURNAL   Nature 320 (6057), 84-85 (1986)
   PUBMED   3456488
REFERENCE   20 (residues 1 to 393)
  AUTHORS   Benchimol,S., Lamb,P., Crawford,L.V., Sheer,D., Shows,T.B.,
            Bruns,G.A. and Peacock,J.
  TITLE     Transformation associated p53 protein is encoded by a gene on human
            chromosome 17
  JOURNAL   Somat Cell Mol Genet 11 (5), 505-510 (1985)
   PUBMED   2994241
REFERENCE   21 (residues 1 to 393)
  AUTHORS   Harlow,E., Williamson,N.M., Ralston,R., Helfman,D.M. and Adams,T.E.
  TITLE     Molecular cloning and in vitro expression of a cDNA clone for human
            cellular tumor antigen p53
  JOURNAL   Mol Cell Biol 5 (7), 1601-1610 (1985)
   PUBMED   3894933
REFERENCE   22 (residues 1 to 393)
  AUTHORS   Zakut-Houri,R., Bienz-Tadmor,B., Givol,D. and Oren,M.
  TITLE     Human p53 cellular tumor antigen: cDNA sequence and expression in
            COS cells
  JOURNAL   EMBO J 4 (5), 1251-1255 (1985)
   PUBMED   4006916
REFERENCE   23 (residues 1 to 393)
  AUTHORS   Matlashewski,G., Lamb,P., Pim,D., Peacock,J., Crawford,L. and
            Benchimol,S.
  TITLE     Isolation and characterization of a human p53 cDNA clone:
            expression of the human p53 gene
  JOURNAL   EMBO J 3 (13), 3257-3262 (1984)
   PUBMED   6396087
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA453049.1, X02469.1 and
            AK223026.1.
            On Dec 29, 2006 this sequence version replaced NP_000537.2.
            
            Summary: This gene encodes a tumor suppressor protein containing
            transcriptional activation, DNA binding, and oligomerization
            domains. The encoded protein responds to diverse cellular stresses
            to regulate expression of target genes, thereby inducing cell cycle
            arrest, apoptosis, senescence, DNA repair, or changes in
            metabolism. Mutations in this gene are associated with a variety of
            human cancers, including hereditary cancers such as Li-Fraumeni
            syndrome. Alternative splicing of this gene and the use of
            alternate promoters result in multiple transcript variants and
            isoforms. Additional isoforms have also been shown to result from
            the use of alternate translation initiation codons from identical
            transcript variants (PMIDs: 12032546, 20937277). [provided by
            RefSeq, Dec 2016].
            
            Transcript Variant: This variant (1) can initiate translation from
            two in-frame AUG start codons. The isoform represented in this
            variant (a, also known as p53alpha) results from translation
            initiation at the upstream start codon. Both variants 1 and 2
            encode isoform a, which is the longest isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC003596.1, AF307851.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000269305.9/ ENSP00000269305.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..393
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     Protein         1..393
                     /product="cellular tumor antigen p53 isoform a"
                     /note="tumor protein 53; mutant tumor protein 53; cellular
                     tumor antigen p53; phosphoprotein p53;
                     transformation-related protein 53; antigen NY-CO-13; tumor
                     supressor p53"
                     /calculated_mol_wt=43522
     Region          1..320
                     /region_name="Interaction with CCAR2.
                     /evidence=ECO:0000269|PubMed:25732823"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          1..83
                     /region_name="Interaction with HRMT1L2.
                     /evidence=ECO:0000269|PubMed:15186775"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          1..44
                     /region_name="Transcription activation (acidic)"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          6..30
                     /region_name="P53_TAD"
                     /note="P53 transactivation motif; pfam08563"
                     /db_xref="CDD:430076"
     Site            9
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by HIPK4.
                     /evidence=ECO:0000269|PubMed:18022393; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Site            15
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CDK5, PRPK, AMPK, NUAK1 and ATM.
                     /evidence=ECO:0000269|PubMed:10570149,
                     ECO:0000269|PubMed:11554766, ECO:0000269|PubMed:15866171,
                     ECO:0000269|PubMed:17108107, ECO:0000269|PubMed:17591690,
                     ECO:0000269|PubMed:17967874, ECO:0000269|PubMed:21317932,
                     ECO:0000269|PubMed:28842590; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Region          17..25
                     /region_name="TADI"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Site            18
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CK1, VRK1 and VRK2.
                     /evidence=ECO:0000269|PubMed:10606744,
                     ECO:0000269|PubMed:10951572, ECO:0000269|PubMed:16704422;
                     propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Site            20
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CHEK2, CK1 and PLK3.
                     /evidence=ECO:0000269|PubMed:10570149,
                     ECO:0000269|PubMed:11447225, ECO:0000269|PubMed:11551930,
                     ECO:0000269|PubMed:12810724, ECO:0000269|PubMed:20041275;
                     propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Site            33
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CDK5 and CDK7.
                     /evidence=ECO:0000269|PubMed:17591690,
                     ECO:0000269|PubMed:9372954; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Region          35..59
                     /region_name="TAD2"
                     /note="Transactivation domain 2; pfam18521"
                     /db_xref="CDD:375947"
     Site            37
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPKAPK5.
                     /evidence=ECO:0000269|PubMed:17254968; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Region          40
                     /region_name="alternative start codon"
                     /note="delta40p53alpha"
     Site            46
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CDK5, DYRK2, HIPK2 and PKC/PRKCG.
                     /evidence=ECO:0000269|PubMed:11740489,
                     ECO:0000269|PubMed:11780126, ECO:0000269|PubMed:16377624,
                     ECO:0000269|PubMed:17349958, ECO:0000269|PubMed:17591690;
                     propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          48..56
                     /region_name="TADII"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          50..96
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Site            55
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by TAF1 and GRK5.
                     /evidence=ECO:0000269|PubMed:15053879,
                     ECO:0000269|PubMed:20124405; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Region          66..110
                     /region_name="Interaction with WWOX"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          100..370
                     /region_name="Interaction with HIPK1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          100..300
                     /region_name="Required for interaction with ZNF385A.
                     /evidence=ECO:0000269|PubMed:17719541"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          109..288
                     /region_name="P53"
                     /note="P53 DNA-binding domain; cd08367"
                     /db_xref="CDD:176262"
     Region          113..236
                     /region_name="Required for interaction with FBXO42.
                     /evidence=ECO:0000269|PubMed:19509332"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          116..292
                     /region_name="Interaction with AXIN1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Site            120
                     /site_type="other"
                     /note="Interaction with DNA.
                     /evidence=ECO:0000269|PubMed:16793544,
                     ECO:0000269|PubMed:18996393, ECO:0000269|PubMed:20364130;
                     propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Site            120
                     /site_type="acetylation"
                     /note="N6-acetyllysine, by KAT6A.
                     /evidence=ECO:0000269|PubMed:23431171; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Site            order(176,179,238,242)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:176262"
     Site            order(177..179,181)
                     /site_type="other"
                     /note="dimerization site [polypeptide binding]"
                     /db_xref="CDD:176262"
     Site            183
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by AURKB.
                     /evidence=ECO:0000269|PubMed:20959462; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Site            order(239,241,248,273,275..277,280)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:176262"
     Region          241..248
                     /region_name="Interaction with the 53BP2 SH3 domain"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          256..294
                     /region_name="Interaction with E4F1.
                     /evidence=ECO:0000269|PubMed:10644996"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Site            269
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by AURKB.
                     /evidence=ECO:0000269|PubMed:20959462; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Region          273..280
                     /region_name="Interaction with DNA"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          282..325
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Site            284
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by AURKB.
                     /evidence=ECO:0000269|PubMed:20959462; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Region          300..393
                     /region_name="Interaction with CARM1.
                     /evidence=ECO:0000269|PubMed:15186775"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          305..321
                     /region_name="Bipartite nuclear localization signal"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Site            305
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:12724314; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Site            315
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by AURKA, CDK1 and CDK2.
                     /evidence=ECO:0000269|PubMed:10884347,
                     ECO:0000269|PubMed:14702041; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Region          319..360
                     /region_name="Interaction with HIPK2"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          319..358
                     /region_name="P53_tetramer"
                     /note="P53 tetramerisation motif; pfam07710"
                     /db_xref="CDD:429612"
     Site            321
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P02340; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Region          325..356
                     /region_name="Oligomerization"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Site            333
                     /site_type="methylation"
                     /note="Omega-N-methylarginine, by PRMT5.
                     /evidence=ECO:0000269|PubMed:19011621; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Site            335
                     /site_type="methylation"
                     /note="Symmetric dimethylarginine, by PRMT5.
                     /evidence=ECO:0000269|PubMed:19011621; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Site            337
                     /site_type="methylation"
                     /note="Symmetric dimethylarginine, by PRMT5.
                     /evidence=ECO:0000269|PubMed:19011621; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Region          339..350
                     /region_name="Nuclear export signal"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          351..393
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          359..363
                     /region_name="Interaction with USP7"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          368..387
                     /region_name="Basic (repression of DNA-binding)"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Region          370..372
                     /region_name="[KR]-[STA]-K motif"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Site            370
                     /site_type="methylation"
                     /note="N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17108971,
                     ECO:0000269|PubMed:22864287; N6-methyllysine, by SMYD2,
                     alternate. /evidence=ECO:0000269|PubMed:17108971,
                     ECO:0000269|PubMed:22864287; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Site            372
                     /site_type="methylation"
                     /note="N6-methyllysine, by SETD7.
                     /evidence=ECO:0000269|PubMed:15525938,
                     ECO:0000269|PubMed:16415881; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Site            373
                     /site_type="methylation"
                     /note="N6,N6-dimethyllysine, by EHMT1 and EHMT2,
                     alternate. /evidence=ECO:0000269|PubMed:20118233;
                     propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Site            373
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:10656795; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Site            381
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:29474172,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P04637.4)"
     Site            382
                     /site_type="methylation"
                     /note="N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17707234,
                     ECO:0000269|PubMed:20870725, ECO:0000269|PubMed:22864287;
                     N6-methyllysine, by KMT5A, alternate.
                     /evidence=ECO:0000269|PubMed:17707234,
                     ECO:0000269|PubMed:20870725, ECO:0000269|PubMed:22864287;
                     propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Site            382
                     /site_type="acetylation"
                     /note="N6-acetyllysine, by KAT6A, alternate.
                     /evidence=ECO:0000269|PubMed:10656795,
                     ECO:0000269|PubMed:15448695, ECO:0000269|PubMed:20228809,
                     ECO:0000269|PubMed:23431171, ECO:0007744|PubMed:19608861;
                     propagated from UniProtKB/Swiss-Prot (P04637.4)"
     Site            392
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2, CDK2 and NUAK1.
                     /evidence=ECO:0000269|PubMed:10884347,
                     ECO:0000269|PubMed:11239457, ECO:0000269|PubMed:17108107,
                     ECO:0000269|PubMed:21317932, ECO:0000269|PubMed:22214662;
                     propagated from UniProtKB/Swiss-Prot (P04637.4)"
     CDS             1..393
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /coded_by="NM_000546.6:143..1324"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS11118.1"
                     /db_xref="GeneID:7157"
                     /db_xref="HGNC:HGNC:11998"
                     /db_xref="MIM:191170"
ORIGIN      
        1 meepqsdpsv epplsqetfs dlwkllpenn vlsplpsqam ddlmlspddi eqwftedpgp
       61 deaprmpeaa ppvapapaap tpaapapaps wplsssvpsq ktyqgsygfr lgflhsgtak
      121 svtctyspal nkmfcqlakt cpvqlwvdst pppgtrvram aiykqsqhmt evvrrcphhe
      181 rcsdsdglap pqhlirvegn lrveylddrn tfrhsvvvpy eppevgsdct tihynymcns
      241 scmggmnrrp iltiitleds sgnllgrnsf evrvcacpgr drrteeenlr kkgephhelp
      301 pgstkralpn ntssspqpkk kpldgeyftl qirgrerfem frelnealel kdaqagkepg
      361 gsrahsshlk skkgqstsrh kklmfktegp dsd
//
LOCUS       NP_001231739             693 aa            linear   PRI 03-APR-2023
DEFINITION  forkhead box protein P1 isoform d [Homo sapiens].
ACCESSION   NP_001231739
VERSION     NP_001231739.1
DBSOURCE    REFSEQ: accession NM_001244810.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 693)
  AUTHORS   Wang L, Luo P, Yang Z, Zhong X and Ji C.
  TITLE     FOXP1 inhibits pancreatic cancer growth by transcriptionally
            regulating IRF1 expression
  JOURNAL   PLoS One 18 (3), e0280794 (2023)
   PUBMED   36952469
  REMARK    GeneRIF: FOXP1 inhibits pancreatic cancer growth by
            transcriptionally regulating IRF1 expression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 693)
  AUTHORS   Jiao J, Liu Z, Li X, Li D, Zou Q and Yuan Y.
  TITLE     FOXP1 and FOXO3a Are Prognostic Markers in Gallbladder Squamous
            Cell/Adenosquamous Carcinomas and Adenocarcinomas
  JOURNAL   Appl Immunohistochem Mol Morphol 30 (10), 703-712 (2022)
   PUBMED   36227108
  REMARK    GeneRIF: FOXP1 and FOXO3a Are Prognostic Markers in Gallbladder
            Squamous Cell/Adenosquamous Carcinomas and Adenocarcinomas.
REFERENCE   3  (residues 1 to 693)
  AUTHORS   Xia S, Huang J, Yan L, Han J, Zhang W, Shao H, Shen H, Wang J, Wang
            J, Tao C, Wang D and Wu F.
  TITLE     miR-150 promotes progressive T cell differentiation via inhibiting
            FOXP1 and RC3H1
  JOURNAL   Hum Immunol 83 (11), 778-788 (2022)
   PUBMED   35999072
  REMARK    GeneRIF: miR-150 promotes progressive T cell differentiation via
            inhibiting FOXP1 and RC3H1.
REFERENCE   4  (residues 1 to 693)
  AUTHORS   Andreas A, Maloy A, Nyunoya T, Zhang Y and Chandra D.
  TITLE     The FoxP1 gene regulates lung function, production of matrix
            metalloproteinases and inflammatory mediators, and viability of
            lung epithelia
  JOURNAL   Respir Res 23 (1), 281 (2022)
   PUBMED   36221131
  REMARK    GeneRIF: The FoxP1 gene regulates lung function, production of
            matrix metalloproteinases and inflammatory mediators, and viability
            of lung epithelia.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 693)
  AUTHORS   Kaminskiy Y, Kuznetsova V, Kudriaeva A, Zmievskaya E and Bulatov E.
  TITLE     Neglected, yet significant role of FOXP1 in T-cell quiescence,
            differentiation and exhaustion
  JOURNAL   Front Immunol 13, 971045 (2022)
   PUBMED   36268015
  REMARK    GeneRIF: Neglected, yet significant role of FOXP1 in T-cell
            quiescence, differentiation and exhaustion.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 693)
  AUTHORS   Wang B, Lin D, Li C and Tucker P.
  TITLE     Multiple domains define the expression and regulatory properties of
            Foxp1 forkhead transcriptional repressors
  JOURNAL   J Biol Chem 278 (27), 24259-24268 (2003)
   PUBMED   12692134
  REMARK    GeneRIF: Foxp1, although broadly expressed, is further regulated by
            tissue-specific alternative splicing of its functionally important
            sequence domains
REFERENCE   7  (residues 1 to 693)
  AUTHORS   Banham AH, Beasley N, Campo E, Fernandez PL, Fidler C, Gatter K,
            Jones M, Mason DY, Prime JE, Trougouboff P, Wood K and Cordell JL.
  TITLE     The FOXP1 winged helix transcription factor is a novel candidate
            tumor suppressor gene on chromosome 3p
  JOURNAL   Cancer Res 61 (24), 8820-8829 (2001)
   PUBMED   11751404
  REMARK    GeneRIF: The FOXP1 winged helix transcription factor is a novel
            candidate tumor suppressor gene on chromosome 3p.
REFERENCE   8  (residues 1 to 693)
  AUTHORS   Wolska MK, Bukowski K and Jakubczak A.
  TITLE     [Occurrence of beta-lactamase type ESBL and IBL in Pseudomonas
            aeruginosa rods]
  JOURNAL   Med Dosw Mikrobiol 53 (1), 45-51 (2001)
   PUBMED   11757404
REFERENCE   9  (residues 1 to 693)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   10 (residues 1 to 693)
  AUTHORS   Li C and Tucker PW.
  TITLE     DNA-binding properties and secondary structural model of the
            hepatocyte nuclear factor 3/fork head domain
  JOURNAL   Proc Natl Acad Sci U S A 90 (24), 11583-11587 (1993)
   PUBMED   8265594
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC097634.2, BC068481.1,
            AK122710.1, BC054505.1, AC103586.3 and GD144178.1.
            
            Summary: This gene belongs to subfamily P of the forkhead box (FOX)
            transcription factor family. Forkhead box transcription factors
            play important roles in the regulation of tissue- and cell
            type-specific gene transcription during both development and
            adulthood. Forkhead box P1 protein contains both DNA-binding- and
            protein-protein binding-domains. This gene may act as a tumor
            suppressor as it is lost in several tumor types and maps to a
            chromosomal region (3p14.1) reported to contain a tumor suppressor
            gene(s). Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (4) lacks an alternate in-frame
            exon but contains another compared to variant 1. The resulting
            isoform (d, previously called 4) has the same N- and C-termini but
            is longer compared to isoform a. This variant encodes the longest
            isoform, which has been shown to enhance embryonic stem (ES) cell
            pluripotency and repress ES cell differentiation.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..693
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p13"
     Protein         1..693
                     /product="forkhead box protein P1 isoform d"
                     /note="fork head-related protein like B; glutamine-rich
                     factor 1; mac-1-regulated forkhead"
                     /calculated_mol_wt=77232
     Region          302..369
                     /region_name="FOXP-CC"
                     /note="FOXP coiled-coil domain; pfam16159"
                     /db_xref="CDD:435179"
     Region          464..545
                     /region_name="FH_FOX"
                     /note="Forkhead (FH) domain found in Forkhead box (FOX)
                     family of transcription factors and similar proteins;
                     cl00061"
                     /db_xref="CDD:444675"
     Site            order(470,488..489,492,511..512,514..515,518,525,530..532,
                     534)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410788"
     CDS             1..693
                     /gene="FOXP1"
                     /gene_synonym="12CC4; hFKH1B; HSPC215; MFH; QRF1"
                     /coded_by="NM_001244810.2:516..2597"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS74964.1"
                     /db_xref="GeneID:27086"
                     /db_xref="HGNC:HGNC:3823"
                     /db_xref="MIM:605515"
ORIGIN      
        1 mmqesgtetk sngsaiqngs ggsnhllecg glregrsnge tpavdigaad lahaqqqqqq
       61 alqvarqlll qqqqqqqvsg lkspkrndkq palqvpvsva mmtpqvitpq qmqqilqqqv
      121 lspqqlqvll qqqqalmlqq qqlqefykkq qeqlqlqllq qqhagkqpke qqqvatqqla
      181 fqqqllqmqq lqqqhllslq rqglltiqpg qpalplqpla qgmiptelqq lwkevtsaht
      241 aeettgnnhs sldltttcvs ssapsktsli mnphastngq lsvhtpkres lsheehphsh
      301 plyghgvckw pgceavcedf qsflkhlnse halddrstaq crvqmqvvqq lelqlakdke
      361 rlqammthlh vkstepkaap qplnlvssvt lsksaseasp qslphtpttp tapltpvtqg
      421 psvitttsmh tvgpirrrys dkynvpissa diaqnqefyk naevrppfty aslirqaile
      481 spekqltlne iynwftrmfa yfrrnaatwk gairtnlslh kcfirvedef gsfwtvddee
      541 fkrgrhiqrg rprkycpden fdelvahnps liknmqssha yctplnaalq asmaensipl
      601 yttasmgnpt lgnlasaire elngamehtn snesdsspgr spmqavhpvh vkeepldpee
      661 aegplslvtt anhspdfdhd rdyedepvne dme
//
LOCUS       NP_149037                301 aa            linear   PRI 18-DEC-2022
DEFINITION  CPX chromosomal region candidate gene 1 protein [Homo sapiens].
ACCESSION   NP_149037
VERSION     NP_149037.5
DBSOURCE    REFSEQ: accession NM_033048.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 301)
  AUTHORS   Antunez-Ortiz DL, Flores-Alfaro E, Burguete-Garcia AI, Bonnefond A,
            Peralta-Romero J, Froguel P, Espinoza-Rojo M and Cruz M.
  TITLE     Copy Number Variations in Candidate Genes and Intergenic Regions
            Affect Body Mass Index and Abdominal Obesity in Mexican Children
  JOURNAL   Biomed Res Int 2017, 2432957 (2017)
   PUBMED   28428959
  REMARK    GeneRIF: Our results indicate a possible contribution of CNVs in
            LEPR, NEGR1, ARHGEF4, and CPXCR1 and the intergenic regions 12q15c,
            15q21.1a, and 22q11.21d to the development of obesity, particularly
            abdominal obesity in Mexican children.
REFERENCE   2  (residues 1 to 301)
  AUTHORS   Lyons PA, Rayner TF, Trivedi S, Holle JU, Watts RA, Jayne DR,
            Baslund B, Brenchley P, Bruchfeld A, Chaudhry AN, Cohen Tervaert
            JW, Deloukas P, Feighery C, Gross WL, Guillevin L, Gunnarsson I,
            Harper L, Hruskova Z, Little MA, Martorana D, Neumann T, Ohlsson S,
            Padmanabhan S, Pusey CD, Salama AD, Sanders JS, Savage CO,
            Segelmark M, Stegeman CA, Tesar V, Vaglio A, Wieczorek S, Wilde B,
            Zwerina J, Rees AJ, Clayton DG and Smith KG.
  TITLE     Genetically distinct subsets within ANCA-associated vasculitis
  JOURNAL   N Engl J Med 367 (3), 214-223 (2012)
   PUBMED   22808956
REFERENCE   3  (residues 1 to 301)
  AUTHORS   Braybrook C, Warry G, Howell G, Mandryko V, Arnason A, Bjornsson A,
            Ross MT, Moore GE and Stanier P.
  TITLE     Physical and transcriptional mapping of the X-linked cleft palate
            and ankyloglossia (CPX) critical region
  JOURNAL   Hum Genet 108 (6), 537-545 (2001)
   PUBMED   11499681
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031116.2.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NP_149037.4.
            
            Summary: This gene is one of several genes identified in a region
            of the X chromosome associated with an X-linked cleft palate (CPX)
            disorder. The encoded protein contains a motif similar to a motif
            found in zinc-finger proteins. Mutation analysis of this gene has
            not revealed any mutation which causes the CPX disorder. Multiple
            alternatively spliced variants, encoding the same protein, have
            been identified. [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC027614.2, BU570042.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000276127.9/ ENSP00000276127.4
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..301
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.31"
     Protein         1..301
                     /product="CPX chromosomal region candidate gene 1 protein"
                     /note="cancer/testis antigen 77"
                     /calculated_mol_wt=34596
     Region          1..77
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N123.2)"
     CDS             1..301
                     /gene="CPXCR1"
                     /gene_synonym="CT77"
                     /coded_by="NM_033048.6:260..1165"
                     /db_xref="CCDS:CCDS14458.1"
                     /db_xref="GeneID:53336"
                     /db_xref="HGNC:HGNC:2332"
                     /db_xref="MIM:301055"
ORIGIN      
        1 msyptkegsd tagnahknse neppndcstd iespsadpnm iyqvetnpin repgtatsqe
       61 dvvpqaaens eleteiqkdq reedlkeell llqtpiprkl vshkplndrs rshsgkvemk
      121 annfpinhkt rfrlstswrv pfinsheirs milhllcdry fsqaagcqnt mwvkrkyiac
      181 lyhpnsfthh eraitfrrps rvhyyrplte rmtsgkfcks tdtkgkcrfr aivrsvlfvs
      241 qiqiesifni kgfvdiltyi htmnvmitnt nngwkyfcpi cgrlfntyse lrqhscsssg
      301 n
//
LOCUS       NP_006644                492 aa            linear   PRI 24-DEC-2022
DEFINITION  fibroblast growth factor receptor substrate 3 [Homo sapiens].
ACCESSION   NP_006644
VERSION     NP_006644.1
DBSOURCE    REFSEQ: accession NM_006653.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 492)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 492)
  AUTHORS   Grossmann A, Benlasfer N, Birth P, Hegele A, Wachsmuth F, Apelt L
            and Stelzl U.
  TITLE     Phospho-tyrosine dependent protein-protein interaction network
  JOURNAL   Mol Syst Biol 11 (3), 794 (2015)
   PUBMED   25814554
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 492)
  AUTHORS   Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C,
            Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T,
            Cousminer DL, Feenstra B, Franceschini N, Ganna A, Johnson AD,
            Kjellqvist S, Lunetta KL, McMahon G, Nolte IM, Paternoster L, Porcu
            E, Smith AV, Stolk L, Teumer A, Tsernikova N, Tikkanen E, Ulivi S,
            Wagner EK, Amin N, Bierut LJ, Byrne EM, Hottenga JJ, Koller DL,
            Mangino M, Pers TH, Yerges-Armstrong LM, Zhao JH, Andrulis IL,
            Anton-Culver H, Atsma F, Bandinelli S, Beckmann MW, Benitez J,
            Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H,
            Buring JE, Chang-Claude J, Chanock S, Chen J, Chenevix-Trench G,
            Collee JM, Couch FJ, Couper D, Coveillo AD, Cox A, Czene K, D'adamo
            AP, Smith GD, De Vivo I, Demerath EW, Dennis J, Devilee P,
            Dieffenbach AK, Dunning AM, Eiriksdottir G, Eriksson JG, Fasching
            PA, Ferrucci L, Flesch-Janys D, Flyger H, Foroud T, Franke L,
            Garcia ME, Garcia-Closas M, Geller F, de Geus EE, Giles GG,
            Gudbjartsson DF, Gudnason V, Guenel P, Guo S, Hall P, Hamann U,
            Haring R, Hartman CA, Heath AC, Hofman A, Hooning MJ, Hopper JL, Hu
            FB, Hunter DJ, Karasik D, Kiel DP, Knight JA, Kosma VM, Kutalik Z,
            Lai S, Lambrechts D, Lindblom A, Magi R, Magnusson PK, Mannermaa A,
            Martin NG, Masson G, McArdle PF, McArdle WL, Melbye M, Michailidou
            K, Mihailov E, Milani L, Milne RL, Nevanlinna H, Neven P, Nohr EA,
            Oldehinkel AJ, Oostra BA, Palotie A, Peacock M, Pedersen NL,
            Peterlongo P, Peto J, Pharoah PD, Postma DS, Pouta A, Pylkas K,
            Radice P, Ring S, Rivadeneira F, Robino A, Rose LM, Rudolph A,
            Salomaa V, Sanna S, Schlessinger D, Schmidt MK, Southey MC, Sovio
            U, Stampfer MJ, Stockl D, Storniolo AM, Timpson NJ, Tyrer J, Visser
            JA, Vollenweider P, Volzke H, Waeber G, Waldenberger M,
            Wallaschofski H, Wang Q, Willemsen G, Winqvist R, Wolffenbuttel BH,
            Wright MJ, Boomsma DI, Econs MJ, Khaw KT, Loos RJ, McCarthy MI,
            Montgomery GW, Rice JP, Streeten EA, Thorsteinsdottir U, van Duijn
            CM, Alizadeh BZ, Bergmann S, Boerwinkle E, Boyd HA, Crisponi L,
            Gasparini P, Gieger C, Harris TB, Ingelsson E, Jarvelin MR, Kraft
            P, Lawlor D, Metspalu A, Pennell CE, Ridker PM, Snieder H, Sorensen
            TI, Spector TD, Strachan DP, Uitterlinden AG, Wareham NJ, Widen E,
            Zygmunt M, Murray A, Easton DF, Stefansson K, Murabito JM and Ong
            KK.
  CONSRTM   Australian Ovarian Cancer Study; GENICA Network; kConFab; LifeLines
            Cohort Study; InterAct Consortium; Early Growth Genetics (EGG)
            Consortium
  TITLE     Parent-of-origin-specific allelic associations among 106 genomic
            loci for age at menarche
  JOURNAL   Nature 514 (7520), 92-97 (2014)
   PUBMED   25231870
REFERENCE   4  (residues 1 to 492)
  AUTHORS   Minegishi Y, Shibagaki Y, Mizutani A, Fujita K, Tezuka T, Kinoshita
            M, Kuroda M, Hattori S and Gotoh N.
  TITLE     Adaptor protein complex of FRS2beta and CIN85/CD2AP provides a
            novel mechanism for ErbB2/HER2 protein downregulation
  JOURNAL   Cancer Sci 104 (3), 345-352 (2013)
   PUBMED   23279575
  REMARK    GeneRIF: an FRS2beta-CIN85/CD2AP-Cbl axis for downregulation of
            ErbB2 may regulate ErbB2 protein levels in physiological and
            pathological settings
REFERENCE   5  (residues 1 to 492)
  AUTHORS   Iejima D, Minegishi Y, Takenaka K, Siswanto A, Watanabe M, Huang L,
            Watanabe T, Tanaka F, Kuroda M and Gotoh N.
  TITLE     FRS2beta, a potential prognostic gene for non-small cell lung
            cancer, encodes a feedback inhibitor of EGF receptor family members
            by ERK binding
  JOURNAL   Oncogene 29 (21), 3087-3099 (2010)
   PUBMED   20228838
  REMARK    GeneRIF: Mechanisms by which FRS2beta acts as a feedback inhibitor
            of EGFR family members and suggest a role for FRS2beta as a tumor
            suppressor.
REFERENCE   6  (residues 1 to 492)
  AUTHORS   Yamada M, Suzuki K, Mizutani M, Asada A, Matozaki T, Ikeuchi T,
            Koizumi S and Hatanaka H.
  TITLE     Analysis of tyrosine phosphorylation-dependent protein-protein
            interactions in TrkB-mediated intracellular signaling using
            modified yeast two-hybrid system
  JOURNAL   J Biochem 130 (1), 157-165 (2001)
   PUBMED   11432792
REFERENCE   7  (residues 1 to 492)
  AUTHORS   Ong SH, Guy GR, Hadari YR, Laks S, Gotoh N, Schlessinger J and Lax
            I.
  TITLE     FRS2 proteins recruit intracellular signaling pathways by binding
            to diverse targets on fibroblast growth factor and nerve growth
            factor receptors
  JOURNAL   Mol Cell Biol 20 (3), 979-989 (2000)
   PUBMED   10629055
REFERENCE   8  (residues 1 to 492)
  AUTHORS   Lim YP, Low BC, Lim J, Wong ES and Guy GR.
  TITLE     Association of atypical protein kinase C isotypes with the docker
            protein FRS2 in fibroblast growth factor signaling
  JOURNAL   J Biol Chem 274 (27), 19025-19034 (1999)
   PUBMED   10383403
REFERENCE   9  (residues 1 to 492)
  AUTHORS   Xu H, Lee KW and Goldfarb M.
  TITLE     Novel recognition motif on fibroblast growth factor receptor
            mediates direct association and activation of SNT adapter proteins
  JOURNAL   J Biol Chem 273 (29), 17987-17990 (1998)
   PUBMED   9660748
REFERENCE   10 (residues 1 to 492)
  AUTHORS   Wang JK, Xu H, Li HC and Goldfarb M.
  TITLE     Broadly expressed SNT-like proteins link FGF receptor stimulation
            to activators of Ras
  JOURNAL   Oncogene 13 (4), 721-729 (1996)
   PUBMED   8761293
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY036161.1 and AF036718.1.
            
            Summary: This gene encodes a substrate for the fibroblast growth
            factor receptor. The encoded protein is found in the peripheral
            plasma membrane and links fibroblast growth factor receptor
            stimulation to activators of Ras. The encoded protein
            down-regulates extracellular regulated kinase 2 through direct
            binding. [provided by RefSeq, Jul 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.307638.1,
                                           SRR1803615.490577.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373018.7/ ENSP00000362109.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..492
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     Protein         1..492
                     /product="fibroblast growth factor receptor substrate 3"
                     /note="suc1-associated neurotrophic factor target 2 (FGFR
                     signalling adaptor); FGFR substrate 3; FGFR-signaling
                     adaptor SNT2; testicular tissue protein Li 71"
                     /calculated_mol_wt=54331
     Region          15..106
                     /region_name="PTB_FRS2"
                     /note="Fibroblast growth factor receptor substrate 2
                     phosphotyrosine-binding domain; cd01202"
                     /db_xref="CDD:269913"
     Site            order(25..28,33,36,47,49..50,55,57,60,62..69,71,73..74,82,
                     85..89,98,102,105)
                     /site_type="other"
                     /note="phosphopeptide binding site [polypeptide binding]"
                     /db_xref="CDD:269913"
     Region          153..173
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43559.3)"
     Region          283..>487
                     /region_name="EIF4E-T"
                     /note="Nucleocytoplasmic shuttling protein for mRNA
                     cap-binding EIF4E; pfam10477"
                     /db_xref="CDD:371079"
     Region          338..455
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43559.3)"
     Region          467..492
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43559.3)"
     CDS             1..492
                     /gene="FRS3"
                     /gene_synonym="FRS2-beta; FRS2B; FRS2beta; SNT-2; SNT2"
                     /coded_by="NM_006653.5:253..1731"
                     /db_xref="CCDS:CCDS4860.1"
                     /db_xref="GeneID:10817"
                     /db_xref="HGNC:HGNC:16970"
                     /db_xref="MIM:607744"
ORIGIN      
        1 mgsccsclnr dsvpdnhptk fkvtnvddeg velgsgvmel tqselvlhlh rreavrwpyl
       61 clrrygydsn lfsfesgrrc qtgqgifafk csraeeifnl lqdlmqcnsi nvmeepviit
      121 rnshpaeldl prapqppnal gytvssfsng cpgegprfsa prrlstsslr hpslgeesth
      181 aliapdeqsh tyvntpased dhrrgrhclq plpegqapfl pqargpdqrd pqvflqpgqv
      241 kfvlgptpar rhmvkcqglc pslhdpphhn nnneapsecp aqpkctyenv tgglwrgagw
      301 rlspeepgwn glahrraall hyenlpplpp vwesqaqqlg geagddgdsr dgltpssngf
      361 pdgeedetpl qkptstraai rshgsfpvpl trrrgsprvf nfdfrrpgpe pprqlnyiqv
      421 elkgwggdrp kgpqnpsspq apmptthpar ssdsyavidl kktvamsnlq ralprddgta
      481 rktrhnstdl pl
//
LOCUS       NP_061181                548 aa            linear   PRI 25-DEC-2022
DEFINITION  synaptic vesicle 2-related protein [Homo sapiens].
ACCESSION   NP_061181
VERSION     NP_061181.1
DBSOURCE    REFSEQ: accession NM_018711.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 548)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 548)
  AUTHORS   Jeanguenin L, Lara-Nunez A, Rodionov DA, Osterman AL, Komarova NY,
            Rentsch D, Gregory JF 3rd and Hanson AD.
  TITLE     Comparative genomics and functional analysis of the NiaP family
            uncover nicotinate transporters from bacteria, plants, and mammals
  JOURNAL   Funct Integr Genomics 12 (1), 25-34 (2012)
   PUBMED   21953179
REFERENCE   3  (residues 1 to 548)
  AUTHORS   Yao J and Bajjalieh SM.
  TITLE     SVOP is a nucleotide binding protein
  JOURNAL   PLoS One 4 (4), e5315 (2009)
   PUBMED   19390693
REFERENCE   4  (residues 1 to 548)
  AUTHORS   Jacobsson JA, Haitina T, Lindblom J and Fredriksson R.
  TITLE     Identification of six putative human transporters with structural
            similarity to the drug transporter SLC22 family
  JOURNAL   Genomics 90 (5), 595-609 (2007)
   PUBMED   17714910
REFERENCE   5  (residues 1 to 548)
  AUTHORS   Janz R, Hofmann K and Sudhof TC.
  TITLE     SVOP, an evolutionarily conserved synaptic vesicle protein,
            suggests novel transport functions of synaptic vesicles
  JOURNAL   J Neurosci 18 (22), 9269-9281 (1998)
   PUBMED   9801366
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA793417.1, BC033587.1, AC087893.15, BC094722.1, BC037811.1 and
            DB297770.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.60343.1,
                                           SRR1803615.265571.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000610966.5/ ENSP00000479104.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..548
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     Protein         1..548
                     /product="synaptic vesicle 2-related protein"
                     /note="SV2 related protein homolog; solute carrier family
                     22 member B4"
                     /calculated_mol_wt=60638
     Site            25
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BFT9; propagated from
                     UniProtKB/Swiss-Prot (Q8N4V2.1)"
     Site            31
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BFT9; propagated from
                     UniProtKB/Swiss-Prot (Q8N4V2.1)"
     Region          87..509
                     /region_name="MFS_SVOP"
                     /note="Synaptic vesicle 2-related protein (SVOP) of the
                     Major Facilitator Superfamily; cd17441"
                     /db_xref="CDD:340999"
     Site            88..108
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4V2.1)"
     Site            order(97..98,101..102,105,137,187..188,190..192,195,214,
                     217..218,221,324,327..328,331..333,336,383,387,436..437,
                     441,445,461,464..465,468..469,472)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:340999"
     Site            123..143
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4V2.1)"
     Site            157..177
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4V2.1)"
     Site            181..201
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4V2.1)"
     Site            210..230
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4V2.1)"
     Site            239..259
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4V2.1)"
     Site            317..337
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4V2.1)"
     Site            374..394
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4V2.1)"
     Site            402..422
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4V2.1)"
     Site            425..445
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4V2.1)"
     Site            458..478
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4V2.1)"
     Site            490..510
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4V2.1)"
     Site            542
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BFT9; propagated from
                     UniProtKB/Swiss-Prot (Q8N4V2.1)"
     CDS             1..548
                     /gene="SVOP"
                     /gene_synonym="SLC22B4"
                     /coded_by="NM_018711.5:201..1847"
                     /db_xref="CCDS:CCDS73520.1"
                     /db_xref="GeneID:55530"
                     /db_xref="HGNC:HGNC:25417"
                     /db_xref="MIM:611699"
ORIGIN      
        1 meedlfqlrq lpvvkfrrtg esarseddta sgehevqieg vhvgleavel ddgaavpkef
       61 anptddtfmv edaveaigfg kfqwklsvlt glawmadame mmilsilapq lhcewrlpsw
      121 qvalltsvvf vgmmssstlw gnisdqygrk tglkisvlwt lyygilsafa pvyswilvlr
      181 glvgfgiggv pqsvtlyaef lpmkarakci llievfwaig tvfevvlavf vmpslgwrwl
      241 lilsavplll favlcfwlpe sarydvlsgn qekaiatlkr iatengapmp lgkliisrqe
      301 drgkmrdlft phfrwttlll wfiwfsnafs yyglvlltte lfqagdvcgi ssrkkaveak
      361 cslaceylse edymdllwtt lsefpgvlvt lwiidrlgrk ktmalcfvif sfcslllfic
      421 vgrnvltlll fiarafisgg fqaayvytpe vyptatralg lgtcsgmarv galitpfiaq
      481 vmlessvylt lavysgccll aalascflpi etkgrglqes shrewgqemv grgmhgagvt
      541 rsnsgsqe
//
LOCUS       NP_612480                381 aa            linear   PRI 25-DEC-2022
DEFINITION  spindlin interactor and repressor of chromatin-binding protein
            [Homo sapiens].
ACCESSION   NP_612480 XP_290508
VERSION     NP_612480.1
DBSOURCE    REFSEQ: accession NM_138471.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 381)
  AUTHORS   Yang F, Chen J, Liu B, Gao G, Sebastian M, Jeter C, Shen J, Person
            MD and Bedford MT.
  TITLE     SPINDOC binds PARP1 to facilitate PARylation
  JOURNAL   Nat Commun 12 (1), 6362 (2021)
   PUBMED   34737271
  REMARK    GeneRIF: SPINDOC binds PARP1 to facilitate PARylation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 381)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 381)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 381)
  AUTHORS   Devi MS, Meiguilungpou R, Sharma AL, Anjali C, Devi KM, Singh LS
            and Singh TR.
  TITLE     Spindlin docking protein (SPIN.DOC) interaction with SPIN1 (a
            histone code reader) regulates Wnt signaling
  JOURNAL   Biochem Biophys Res Commun 511 (3), 498-503 (2019)
   PUBMED   30803761
  REMARK    GeneRIF: SPINDOC Interacts with SPIN1 in DNA independent manner.
            SPINDOC regulates expression and chromatin loading of SPIN1.
REFERENCE   5  (residues 1 to 381)
  AUTHORS   Bae N, Gao M, Li X, Premkumar T, Sbardella G, Chen J and Bedford
            MT.
  TITLE     A transcriptional coregulator, SPIN.DOC, attenuates the coactivator
            activity of Spindlin1
  JOURNAL   J Biol Chem 292 (51), 20808-20817 (2017)
   PUBMED   29061846
  REMARK    GeneRIF: identified SPIN.DOC as a transcriptional repressor that
            binds SPIN1 and masks its ability to engage the H3-Lys-4
            trimethylation activation mark
REFERENCE   6  (residues 1 to 381)
  AUTHORS   Kang SJ, Rangaswamy M, Manz N, Wang JC, Wetherill L, Hinrichs T,
            Almasy L, Brooks A, Chorlian DB, Dick D, Hesselbrock V, Kramer J,
            Kuperman S, Nurnberger J Jr, Rice J, Schuckit M, Tischfield J,
            Bierut LJ, Edenberg HJ, Goate A, Foroud T and Porjesz B.
  TITLE     Family-based genome-wide association study of frontal theta;
            oscillations identifies potassium channel gene KCNJ6
  JOURNAL   Genes Brain Behav 11 (6), 712-719 (2012)
   PUBMED   22554406
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY013538.1 and BC002782.2.
            On Jan 24, 2004 this sequence version replaced XP_290508.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC056402.1, SRR7346977.1007577.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000294244.9/ ENSP00000294244.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..381
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     Protein         1..381
                     /product="spindlin interactor and repressor of
                     chromatin-binding protein"
                     /note="hypothetical protein BC007540; SPIN1 docking
                     protein; uncharacterized protein C11orf84"
                     /calculated_mol_wt=40906
     Region          42..73
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BUA3.3)"
     Region          70..134
                     /region_name="zf-C2H2_12"
                     /note="Zinc-finger C2H2-type; pfam18658"
                     /db_xref="CDD:436652"
     Site            121
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BUA3.3)"
     Region          144..264
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BUA3.3)"
     Site            148
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BUA3.3)"
     Site            248
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BUA3.3)"
     Site            251
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BUA3.3)"
     Region          283..320
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BUA3.3)"
     Site            308
                     /site_type="phosphorylation"
                     /note="Phosphoserine. /evidence=ECO:0000269|Ref.3,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9BUA3.3)"
     Site            310
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BUA3.3)"
     Region          339..381
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BUA3.3)"
     CDS             1..381
                     /gene="SPINDOC"
                     /gene_synonym="C11orf84; SPIN-DOC"
                     /coded_by="NM_138471.3:232..1377"
                     /db_xref="CCDS:CCDS31594.1"
                     /db_xref="GeneID:144097"
                     /db_xref="HGNC:HGNC:25115"
ORIGIN      
        1 malkaegaal dcfevtlkce egedeeeamv vaviprpepm lrvtqqektp pprpspleag
       61 sdgceepkqq vsweqeflvg sspggsgral cmvcgaeira psadtarshi leqhphtldl
      121 spseksnile awsegvallq dvraeqpspp nsdsgqdahp dpdanpdaar mpaeivvlld
      181 sednpslpkr srprglrple lpavpatepg nkkprgqrwk eppgeepvrk krgrpmtknl
      241 dpdpeppspd sptetfaapa evrhftdgsf pagfvlqlfs htqlrgpdsk dspkdrevae
      301 gglpraesps papppglrgt ldlqvirvrm eeppavsllq dwsrhpqgtk rvgagdtsdw
      361 ptvlsesstt vagkpekgng v
//
LOCUS       NP_004957                415 aa            linear   PRI 29-DEC-2022
DEFINITION  heterogeneous nuclear ribonucleoprotein F [Homo sapiens].
ACCESSION   NP_004957
VERSION     NP_004957.1
DBSOURCE    REFSEQ: accession NM_004966.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 415)
  AUTHORS   Ryan VH, Perdikari TM, Naik MT, Saueressig CF, Lins J, Dignon GL,
            Mittal J, Hart AC and Fawzi NL.
  TITLE     Tyrosine phosphorylation regulates hnRNPA2 granule protein
            partitioning and reduces neurodegeneration
  JOURNAL   EMBO J 40 (3), e105001 (2021)
   PUBMED   33349959
  REMARK    GeneRIF: Tyrosine phosphorylation regulates hnRNPA2 granule protein
            partitioning and reduces neurodegeneration.
REFERENCE   2  (residues 1 to 415)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 415)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 415)
  AUTHORS   Montero-Conde C, Grana-Castro O, Martin-Serrano G, Martinez-Montes
            AM, Zarzuela E, Munoz J, Torres-Perez R, Pita G, Cordero-Barreal A,
            Leandro-Garcia LJ, Leton R, Lopez de Silanes I, Guadalix S,
            Perez-Barrios A, Hawkins F, Guerrero-Alvarez A, Alvarez-Escola C,
            Regojo-Zapata RM, Calsina B, Remacha L, Roldan-Romero JM, Santos M,
            Lanillos J, Jorda M, Riesco-Eizaguirre G, Zafon C, Gonzalez-Neira
            A, Blasco MA, Al-Shahrour F, Rodriguez-Antona C, Cascon A and
            Robledo M.
  TITLE     Hsa-miR-139-5p is a prognostic thyroid cancer marker involved in
            HNRNPF-mediated alternative splicing
  JOURNAL   Int J Cancer 146 (2), 521-530 (2020)
   PUBMED   31403184
  REMARK    GeneRIF: Study in thyroid cancer series enriched with poor
            prognosis cases and found hsa-miR139-5p downregulation as a bona
            fide poor-prognostic factor. Exogenous hsa-miR-139-5p expression
            repressed procancer features of thyroid cancer cells. Proteomic
            analysis revealed that the alternative splicing factor HNRNPF is a
            putative hsa-miR-139-5p.
REFERENCE   5  (residues 1 to 415)
  AUTHORS   Li F, Zhao H, Su M, Xie W, Fang Y, Du Y, Yu Z, Hou L and Tan W.
  TITLE     HnRNP-F regulates EMT in bladder cancer by mediating the
            stabilization of Snail1 mRNA by binding to its 3' UTR
  JOURNAL   EBioMedicine 45, 208-219 (2019)
   PUBMED   31221586
  REMARK    GeneRIF: The overexpression of hnRNP-F caused an increase in the
            stability of Snail1 mRNA. Our RNA chip analysis revealed that
            hnRNP-F could combine with Snail1 mRNA, and we further demonstrated
            that hnRNP-F could directly bind to the 3' untranslated region (3'
            UTR) of Snail1 mRNA to enhance its stability.
REFERENCE   6  (residues 1 to 415)
  AUTHORS   Chou MY, Rooke N, Turck CW and Black DL.
  TITLE     hnRNP H is a component of a splicing enhancer complex that
            activates a c-src alternative exon in neuronal cells
  JOURNAL   Mol Cell Biol 19 (1), 69-77 (1999)
   PUBMED   9858532
REFERENCE   7  (residues 1 to 415)
  AUTHORS   Gamberi C, Izaurralde E, Beisel C and Mattaj IW.
  TITLE     Interaction between the human nuclear cap-binding protein complex
            and hnRNP F
  JOURNAL   Mol Cell Biol 17 (5), 2587-2597 (1997)
   PUBMED   9111328
REFERENCE   8  (residues 1 to 415)
  AUTHORS   Honore B, Rasmussen HH, Vorum H, Dejgaard K, Liu X, Gromov P,
            Madsen P, Gesser B, Tommerup N and Celis JE.
  TITLE     Heterogeneous nuclear ribonucleoproteins H, H', and F are members
            of a ubiquitously expressed subfamily of related but distinct
            proteins encoded by genes mapping to different chromosomes
  JOURNAL   J Biol Chem 270 (48), 28780-28789 (1995)
   PUBMED   7499401
REFERENCE   9  (residues 1 to 415)
  AUTHORS   Matunis MJ, Xing J and Dreyfuss G.
  TITLE     The hnRNP F protein: unique primary structure, nucleic acid-binding
            properties, and subcellular localization
  JOURNAL   Nucleic Acids Res 22 (6), 1059-1067 (1994)
   PUBMED   7512260
REFERENCE   10 (residues 1 to 415)
  AUTHORS   McDonald H, Smailus D, Jenkins H, Adams K, Simpson NE and
            Goodfellow PJ.
  TITLE     Identification and characterization of a gene at D10S94 in the
            MEN2A region
  JOURNAL   Genomics 13 (2), 344-348 (1992)
   PUBMED   1351868
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA594075.1, BC004254.1,
            BC001432.2 and AI133166.1.
            
            Summary: This gene belongs to the subfamily of ubiquitously
            expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The
            hnRNPs are RNA binding proteins that complex with heterogeneous
            nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs
            in the nucleus and regulate alternative splicing, polyadenylation,
            and other aspects of mRNA metabolism and transport. While all of
            the hnRNPs are present in the nucleus, some seem to shuttle between
            the nucleus and the cytoplasm. The hnRNP proteins have distinct
            nucleic acid binding properties. The protein encoded by this gene
            has three repeats of quasi-RRM domains that bind to RNAs which have
            guanosine-rich sequences. This protein is very similar to the
            family member hnRPH. Multiple alternatively spliced variants,
            encoding the same protein, have been identified. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1. Variants 1-6 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC004254.1, SRR11853560.3422.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2145313
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..415
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.21"
     Protein         1..415
                     /product="heterogeneous nuclear ribonucleoprotein F"
                     /note="HnRNP F protein; nucleolin-like protein mcs94-1"
                     /calculated_mol_wt=45541
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine, in Heterogeneous nuclear
                     ribonucleoprotein F, alternate.
                     /evidence=ECO:0000269|Ref.8, ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylmethionine, in Heterogeneous nuclear
                     ribonucleoprotein F, N-terminally processed.
                     /evidence=ECO:0000269|Ref.8, ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (P52597.3)"
     Region          10..88
                     /region_name="RRM1_hnRNPH_hnRNPH2_hnRNPF"
                     /note="RNA recognition motif 1 (RRM1) found in
                     heterogeneous nuclear ribonucleoprotein hnRNP H, hnRNP H2,
                     hnRNP F and similar proteins; cd12729"
                     /db_xref="CDD:410128"
     Site            16
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            20
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            52
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            75
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Region          81..86
                     /region_name="Interaction with RNA"
                     /note="propagated from UniProtKB/Swiss-Prot (P52597.3)"
     Region          103..192
                     /region_name="RRM2_hnRNPH_hnRNPH2_hnRNPF"
                     /note="RNA recognition motif 2 (RRM2) found in
                     heterogeneous nuclear ribonucleoprotein hnRNP H, hnRNP H2,
                     hnRNP F and similar proteins; cd12731"
                     /db_xref="CDD:410130"
     Site            104
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P52597.3)"
     Site            107
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            116
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            120
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            150
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            161
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            173
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Region          179..184
                     /region_name="Interaction with RNA"
                     /note="propagated from UniProtKB/Swiss-Prot (P52597.3)"
     Site            187
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            193
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            195
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q794E4; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            200
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9Z2X1; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            215
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            224
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Region          255..290
                     /region_name="zf-RNPHF"
                     /note="RNPHF zinc finger; pfam08080"
                     /db_xref="CDD:429823"
     Site            265
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Region          289..363
                     /region_name="RRM3_hnRNPH_CRSF1_like"
                     /note="RNA recognition motif 3 (RRM3) found in
                     heterogeneous nuclear ribonucleoprotein hnRNP H protein
                     family, G-rich sequence factor 1 (GRSF-1) and similar
                     proteins; cd12506"
                     /db_xref="CDD:409929"
     Site            294
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            298
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            326
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Site            349
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (P52597.3)"
     Region          355..360
                     /region_name="Interaction with RNA"
                     /note="propagated from UniProtKB/Swiss-Prot (P52597.3)"
     CDS             1..415
                     /gene="HNRNPF"
                     /gene_synonym="HNRPF; mcs94-1; OK/SW-cl.23"
                     /coded_by="NM_004966.4:344..1591"
                     /db_xref="CCDS:CCDS7204.1"
                     /db_xref="GeneID:3185"
                     /db_xref="HGNC:HGNC:5039"
                     /db_xref="MIM:601037"
ORIGIN      
        1 mmlgpeggeg fvvklrglpw scsvedvqnf lsdctihdga agvhfiytre grqsgeafve
       61 lgseddvkma lkkdresmgh ryievfkshr temdwvlkhs gpnsadsand gfvrlrglpf
      121 gctkeeivqf fsgleivpng itlpvdpegk itgeafvqfa sqelaekalg khkerighry
      181 ievfkssqee vrsysdpplk fmsvqrpgpy drpgtarryi givkqagler mrpgaystgy
      241 ggyeeysgls dgygfttdlf grdlsyclsg mydhrygdse ftvqsttghc vhmrglpyka
      301 tendiynffs plnpvrvhie igpdgrvtge advefathee avaamskdra nmqhryielf
      361 lnsttgasng ayssqvmqgm gvsaaqatys glesqsvsgc ygagysgqns mggyd
//
LOCUS       NP_001365902             466 aa            linear   PRI 19-FEB-2023
DEFINITION  muscarinic acetylcholine receptor M2 [Homo sapiens].
ACCESSION   NP_001365902
VERSION     NP_001365902.1
DBSOURCE    REFSEQ: accession NM_001378973.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 466)
  AUTHORS   Refisch A, Komatsuzaki S, Ungelenk M, Chung HY, Schumann A,
            Schilling SS, Jantzen W, Schroder S, Muhleisen TW, Nothen MM,
            Hubner CA and Bar KJ.
  TITLE     Associations of common genetic risk variants of the muscarinic
            acetylcholine receptor M2 with cardiac autonomic dysfunction in
            patients with schizophrenia
  JOURNAL   World J Biol Psychiatry 24 (1), 1-11 (2023)
   PUBMED   35172679
REFERENCE   2  (residues 1 to 466)
  AUTHORS   Kim M, Hong S, Yankeelov TE, Yeh HC and Liu YL.
  TITLE     Deep learning-based classification of breast cancer cells using
            transmembrane receptor dynamics
  JOURNAL   Bioinformatics 38 (1), 243-249 (2021)
   PUBMED   34390568
  REMARK    GeneRIF: Deep learning-based classification of breast cancer cells
            using transmembrane receptor dynamics.
REFERENCE   3  (residues 1 to 466)
  AUTHORS   Katayama K, Suzuki K, Suno R, Kise R, Tsujimoto H, Iwata S, Inoue
            A, Kobayashi T and Kandori H.
  TITLE     Vibrational spectroscopy analysis of ligand efficacy in human M2
            muscarinic acetylcholine receptor (M2R)
  JOURNAL   Commun Biol 4 (1), 1321 (2021)
   PUBMED   34815515
  REMARK    GeneRIF: Vibrational spectroscopy analysis of ligand efficacy in
            human M2 muscarinic acetylcholine receptor (M2R).
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 466)
  AUTHORS   Di Bari M, Tombolillo V, Alessandrini F, Guerriero C, Fiore M,
            Asteriti IA, Castigli E, Sciaccaluga M, Guarguaglini G, Degrassi F
            and Tata AM.
  TITLE     M2 Muscarinic Receptor Activation Impairs Mitotic Progression and
            Bipolar Mitotic Spindle Formation in Human Glioblastoma Cell Lines
  JOURNAL   Cells 10 (7), 1727 (2021)
   PUBMED   34359896
  REMARK    GeneRIF: M2 Muscarinic Receptor Activation Impairs Mitotic
            Progression and Bipolar Mitotic Spindle Formation in Human
            Glioblastoma Cell Lines.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 466)
  AUTHORS   Luo L, Zhang G, Mao L, Wang P, Xi C, Shi G and Leavenworth JW.
  TITLE     Group II muscarinic acetylcholine receptors attenuate hepatic
            injury via Nrf2/ARE pathway
  JOURNAL   Toxicol Appl Pharmacol 395, 114978 (2020)
   PUBMED   32234387
  REMARK    GeneRIF: Group II muscarinic acetylcholine receptors attenuate
            hepatic injury via Nrf2/ARE pathway.
REFERENCE   6  (residues 1 to 466)
  AUTHORS   van Koppen CJ and Nathanson NM.
  TITLE     Site-directed mutagenesis of the m2 muscarinic acetylcholine
            receptor. Analysis of the role of N-glycosylation in receptor
            expression and function
  JOURNAL   J Biol Chem 265 (34), 20887-20892 (1990)
   PUBMED   2249995
REFERENCE   7  (residues 1 to 466)
  AUTHORS   Goyal RK.
  TITLE     Muscarinic receptor subtypes. Physiology and clinical implications
  JOURNAL   N Engl J Med 321 (15), 1022-1029 (1989)
   PUBMED   2674717
  REMARK    Review article
REFERENCE   8  (residues 1 to 466)
  AUTHORS   Ashkenazi A, Ramachandran J and Capon DJ.
  TITLE     Acetylcholine analogue stimulates DNA synthesis in brain-derived
            cells via specific muscarinic receptor subtypes
  JOURNAL   Nature 340 (6229), 146-150 (1989)
   PUBMED   2739737
REFERENCE   9  (residues 1 to 466)
  AUTHORS   Peralta EG, Ashkenazi A, Winslow JW, Smith DH, Ramachandran J and
            Capon DJ.
  TITLE     Distinct primary structures, ligand-binding properties and
            tissue-specific expression of four human muscarinic acetylcholine
            receptors
  JOURNAL   EMBO J 6 (13), 3923-3929 (1987)
   PUBMED   3443095
REFERENCE   10 (residues 1 to 466)
  AUTHORS   Bonner,T.I., Buckley,N.J., Young,A.C. and Brann,M.R.
  TITLE     Identification of a family of muscarinic acetylcholine receptor
            genes
  JOURNAL   Science 237 (4814), 527-532 (1987)
   PUBMED   3037705
  REMARK    Erratum:[Science 1987 Sep 25;237(4822):237]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009264.6, AC020581.10 and
            KF458615.1.
            
            Summary: The muscarinic cholinergic receptors belong to a larger
            family of G protein-coupled receptors. The functional diversity of
            these receptors is defined by the binding of acetylcholine to these
            receptors and includes cellular responses such as adenylate cyclase
            inhibition, phosphoinositide degeneration, and potassium channel
            mediation. Muscarinic receptors influence many effects of
            acetylcholine in the central and peripheral nervous system. The
            muscarinic cholinergic receptor 2 is involved in mediation of
            bradycardia and a decrease in cardiac contractility. Multiple
            alternatively spliced transcript variants have been described for
            this gene. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY456127.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146982, SAMEA2151741
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..466
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q33"
     Protein         1..466
                     /product="muscarinic acetylcholine receptor M2"
                     /note="muscarinic M2 receptor; 7TM receptor; acetylcholine
                     receptor, muscarinic 2"
                     /calculated_mol_wt=51584
     Site            2
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P08172.1)"
     Site            3
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P08172.1)"
     Site            6
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P08172.1)"
     Site            9
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P08172.1)"
     Site            23..45
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1)"
     Region          24..451
                     /region_name="7tmA_mAChR_M2"
                     /note="muscarinic acetylcholine receptor subtype M2,
                     member of the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15297"
                     /db_xref="CDD:320424"
     Region          25..51
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320424"
     Region          58..84
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320424"
     Site            60..80
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1)"
     Region          96..126
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320424"
     Site            98..119
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1)"
     Site            order(103..104,107..108,155,181,187,190..191,194..195,400,
                     403..404,426,429..430)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:320424"
     Region          120..122
                     /region_name="Important for signaling"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1)"
     Region          138..161
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320424"
     Site            140..162
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1)"
     Region          183..212
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320424"
     Site            185..209
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1)"
     Region          218..355
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1)"
     Site            232
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ERZ4; propagated from
                     UniProtKB/Swiss-Prot (P08172.1)"
     Region          380..410
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320424"
     Site            388..410
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1)"
     Region          419..444
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320424"
     Site            419..442
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1)"
     Region          436..440
                     /region_name="Important for signaling"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1)"
     Site            446
                     /site_type="phosphorylation"
                     /note="Phosphothreonine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P08172.1)"
     Site            450
                     /site_type="phosphorylation"
                     /note="Phosphothreonine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P08172.1)"
     Site            465
                     /site_type="phosphorylation"
                     /note="Phosphothreonine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P08172.1)"
     CDS             1..466
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /coded_by="NM_001378973.1:238..1638"
                     /db_xref="CCDS:CCDS5843.1"
                     /db_xref="GeneID:1129"
                     /db_xref="HGNC:HGNC:1951"
                     /db_xref="MIM:118493"
ORIGIN      
        1 mnnstnssnn slaltspykt fevvfivlva gslslvtiig nilvmvsikv nrhlqtvnny
       61 flfslacadl iigvfsmnly tlytvigywp lgpvvcdlwl aldyvvsnas vmnlliisfd
      121 ryfcvtkplt ypvkrttkma gmmiaaawvl sfilwapail fwqfivgvrt vedgecyiqf
      181 fsnaavtfgt aiaafylpvi imtvlywhis rasksrikkd kkepvanqdp vspslvqgri
      241 vkpnnnnmps sddglehnki qngkaprdpv tencvqgeek essndstsvs avasnmrdde
      301 itqdentvst slghskdens kqtcirigtk tpksdsctpt nttvevvgss gqngdekqni
      361 varkivkmtk qpakkkppps rekkvtrtil aillafiitw apynvmvlin tfcapcipnt
      421 vwtigywlcy instinpacy alcnatfkkt fkhllmchyk nigatr
//
LOCUS       NP_001165082             398 aa            linear   PRI 13-MAR-2023
DEFINITION  LIM domain-binding protein 3 isoform 6 [Homo sapiens].
ACCESSION   NP_001165082 XP_011537497
VERSION     NP_001165082.1
DBSOURCE    REFSEQ: accession NM_001171611.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 398)
  AUTHORS   Koopmann TT, Jamshidi Y, Naghibi-Sistani M, van der Klift HM,
            Birjandi H, Al-Hassnan Z, Alwadai A, Zifarelli G, Karimiani EG,
            Sedighzadeh S, Bahreini A, Nouri N, Peter M, Watanabe K, van
            Duyvenvoorde HA, Ruivenkamp CAL, Teunissen AKK, Ten Harkel ADJ, van
            Duinen SG, Haak MC, Prada CE, Santen GWE and Maroofian R.
  TITLE     Biallelic loss of LDB3 leads to a lethal pediatric dilated
            cardiomyopathy
  JOURNAL   Eur J Hum Genet 31 (1), 97-104 (2023)
   PUBMED   36253531
  REMARK    GeneRIF: Biallelic loss of LDB3 leads to a lethal pediatric dilated
            cardiomyopathy.
REFERENCE   2  (residues 1 to 398)
  AUTHORS   Cassandrini D, Merlini L, Pilla F, Cenni V, Santi S, Faldini C,
            Santorelli FM and Sabatelli P.
  TITLE     Protein aggregates and autophagy involvement in a family with a
            mutation in Z-band alternatively spliced PDZ-motif protein
  JOURNAL   Neuromuscul Disord 31 (1), 44-51 (2021)
   PUBMED   33308939
  REMARK    GeneRIF: Protein aggregates and autophagy involvement in a family
            with a mutation in Z-band alternatively spliced PDZ-motif protein.
REFERENCE   3  (residues 1 to 398)
  AUTHORS   Gergs U, Mangold W, Langguth F, Hatzfeld M, Hauptmann S, Bushnaq H,
            Simm A, Silber RE and Neumann J.
  TITLE     Alterations of protein expression of phospholamban, ZASP and
            plakoglobin in human atria in subgroups of seniors
  JOURNAL   Sci Rep 9 (1), 5610 (2019)
   PUBMED   30948763
  REMARK    GeneRIF: Alterations of protein expression of phospholamban, ZASP
            and plakoglobin in human atria in subgroups of seniors.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 398)
  AUTHORS   Wang DF, Lyu JL, Fang J, Chen J, Chen WW, Huang JQ, Xia SD, Jin JM,
            Dong FH, Cheng HQ, Xu YK and Guo XG.
  TITLE     Impact of LDB3 gene polymorphisms on clinical presentation and
            implantable cardioverter defibrillator (ICD) implantation in
            Chinese patients with idiopathic dilated cardiomyopathy
  JOURNAL   J Zhejiang Univ Sci B 20 (9), 766-775 (2019)
   PUBMED   31379146
  REMARK    GeneRIF: The rs4468255 of LIM domain binding 3 (LDB3) is
            significantly correlated with idiopathic dilated cardiomyopathy of
            Chinese Han population
REFERENCE   5  (residues 1 to 398)
  AUTHORS   Passier R, Richardson JA and Olson EN.
  TITLE     Oracle, a novel PDZ-LIM domain protein expressed in heart and
            skeletal muscle
  JOURNAL   Mech Dev 92 (2), 277-284 (2000)
   PUBMED   10727866
REFERENCE   6  (residues 1 to 398)
  AUTHORS   Faulkner G, Pallavicini A, Formentin E, Comelli A, Ievolella C,
            Trevisan S, Bortoletto G, Scannapieco P, Salamon M, Mouly V, Valle
            G and Lanfranchi G.
  TITLE     ZASP: a new Z-band alternatively spliced PDZ-motif protein
  JOURNAL   J Cell Biol 146 (2), 465-475 (1999)
   PUBMED   10427098
REFERENCE   7  (residues 1 to 398)
  AUTHORS   Zhou Q, Ruiz-Lozano P, Martone ME and Chen J.
  TITLE     Cypher, a striated muscle-restricted PDZ and LIM domain-containing
            protein, binds to alpha-actinin-2 and protein kinase C
  JOURNAL   J Biol Chem 274 (28), 19807-19813 (1999)
   PUBMED   10391924
REFERENCE   8  (residues 1 to 398)
  AUTHORS   Bowles KR, Gajarski R, Porter P, Goytia V, Bachinski L, Roberts R,
            Pignatelli R and Towbin JA.
  TITLE     Gene mapping of familial autosomal dominant dilated cardiomyopathy
            to chromosome 10q21-23
  JOURNAL   J Clin Invest 98 (6), 1355-1360 (1996)
   PUBMED   8823300
REFERENCE   9  (residues 1 to 398)
  AUTHORS   Selcen,D. and Engel,A.G.
  TITLE     Myofibrillar Myopathy - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301672
REFERENCE   10 (residues 1 to 398)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067750.5 and AF276809.1.
            On Jan 10, 2019 this sequence version replaced XP_011537497.1.
            
            Summary: This gene encodes a PDZ domain-containing protein. PDZ
            motifs are modular protein-protein interaction domains consisting
            of 80-120 amino acid residues. PDZ domain-containing proteins
            interact with each other in cytoskeletal assembly or with other
            proteins involved in targeting and clustering of membrane proteins.
            The protein encoded by this gene interacts with alpha-actinin-2
            through its N-terminal PDZ domain and with protein kinase C via its
            C-terminal LIM domains. The LIM domain is a cysteine-rich motif
            defined by 50-60 amino acids containing two zinc-binding modules.
            This protein also interacts with all three members of the myozenin
            family. Mutations in this gene have been associated with
            myofibrillar myopathy and dilated cardiomyopathy. Alternatively
            spliced transcript variants encoding different isoforms have been
            identified; all isoforms have N-terminal PDZ domains while only
            longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided
            by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (6) differs in the 3' UTR and has
            multiple differences in the coding region, compared to variant 1.
            The encoded isoform (6) is shorter and has a distinct C-terminus,
            compared to isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AF276809.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1968189, SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..398
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.2"
     Protein         1..398
                     /product="LIM domain-binding protein 3 isoform 6"
                     /note="PDZ and LIM domain 6; Z-band alternatively spliced
                     PDZ-motif protein; LIM domain-binding protein 3; protein
                     cypher; cardiomyopathy, dilated 1C (autosomal dominant)"
                     /calculated_mol_wt=42701
     Region          5..81
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(12..15,17,65..66,69..70)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Site            44
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JKS4; propagated from
                     UniProtKB/Swiss-Prot (O75112.2)"
     Region          86..197
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75112.2)"
     Region          93..>186
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            121
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JKS4; propagated from
                     UniProtKB/Swiss-Prot (O75112.2)"
     Site            123
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JKS4; propagated from
                     UniProtKB/Swiss-Prot (O75112.2)"
     Region          189..214
                     /region_name="ZM"
                     /note="ZASP-like motif; smart00735"
                     /db_xref="CDD:128974"
     Site            217
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JKS4; propagated from
                     UniProtKB/Swiss-Prot (O75112.2)"
     Site            219
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9JKS4; propagated from
                     UniProtKB/Swiss-Prot (O75112.2)"
     Site            223
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JKS4; propagated from
                     UniProtKB/Swiss-Prot (O75112.2)"
     Region          263..365
                     /region_name="DUF4749"
                     /note="Domain of unknown function (DUF4749); pfam15936"
                     /db_xref="CDD:435028"
     CDS             1..398
                     /gene="LDB3"
                     /gene_synonym="CMD1C; CMH24; CMPD3; CYPHER; LDB3Z1;
                     LDB3Z4; LVNC3; MFM4; ORACLE; PDLIM6; ZASP"
                     /coded_by="NM_001171611.2:84..1280"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS53549.1"
                     /db_xref="GeneID:11155"
                     /db_xref="HGNC:HGNC:15710"
                     /db_xref="MIM:605906"
ORIGIN      
        1 msysvtltgp gpwgfrlqgg kdfnmpltis ritpgskaaq sqlsqgdlvv aidgvntdtm
       61 thleaqnkik sasynlsltl qkskrpipis ttappvqtpl pviphqkdpa ldtngslvap
      121 spspearasp gtpgtpelrp tfspafsrps afsslaeasd pgppraslra ktspegardl
      181 lgpkalpgss qprqynnpig lysaetlrem aqmyqmslrg kasgvglpgg adyqerfnps
      241 alkdsalsth kpievkglgg katiihaqyn tpismysqda imdaiagqaq aqgsdfsgsl
      301 pikdlavdsa spvyqaviks qnkpedeade warrssnlqs rsfrilaqmt gtefmqdpde
      361 ealrrsrerf eternsprfa klrnwhhgls aqilnvks
//
LOCUS       XP_047274050             102 aa            linear   PRI 20-MAR-2023
DEFINITION  RIIa domain-containing protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_047274050
VERSION     XP_047274050.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418094.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..102
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..102
                     /product="RIIa domain-containing protein 1 isoform X4"
                     /calculated_mol_wt=12027
     Region          50..90
                     /region_name="DD_RIIAD1"
                     /note="dimerization/docking (D/D) domain found in RIIa
                     domain-containing protein 1 (RIIAD1) and similar proteins;
                     cd22971"
                     /db_xref="CDD:438540"
     Site            order(51,55..56,59..60,63..64,67..68)
                     /site_type="other"
                     /note="putative AKAP interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:438540"
     Site            order(55,58..59,62..63,66..67,70..71,73..76,78..79,82,84)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:438540"
     CDS             1..102
                     /gene="RIIAD1"
                     /gene_synonym="C1orf230; NCRNA00166"
                     /coded_by="XM_047418094.1:1488..1796"
                     /db_xref="GeneID:284485"
                     /db_xref="HGNC:HGNC:26686"
ORIGIN      
        1 mlsvrrvsed icsriyesaq ridsitflps sgfhlkwkiq trianekylr thkevewlis
       61 gffreiflkr pdnilefaad yftdprlpnk ihmqlikdkk aa
//
LOCUS       XP_047283476             543 aa            linear   PRI 20-MAR-2023
DEFINITION  UV radiation resistance-associated gene protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_047283476
VERSION     XP_047283476.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427520.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..543
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..543
                     /product="UV radiation resistance-associated gene protein
                     isoform X1"
                     /calculated_mol_wt=61612
     Region          44..>118
                     /region_name="C2"
                     /note="C2 domain; cd00030"
                     /db_xref="CDD:175973"
     Region          184..>395
                     /region_name="Atg14"
                     /note="Vacuolar sorting 38 and autophagy-related subunit
                     14; pfam10186"
                     /db_xref="CDD:431120"
     CDS             1..543
                     /gene="UVRAG"
                     /gene_synonym="DHTX; p63; VPS38"
                     /coded_by="XM_047427520.1:199..1830"
                     /db_xref="GeneID:7405"
                     /db_xref="HGNC:HGNC:12640"
                     /db_xref="MIM:602493"
ORIGIN      
        1 msasasvggp vpqpppgpaa alppgsaara lhvelpsqqr rlrhlrniaa rnivnrnghq
       61 lldtyftlhl cstekiykef yrseviknsl nptwrsldfg impdrldtsv scfvvkiwgg
      121 keniyqllie wkvcldglky lgqqiharnq neiifglndg yygapfehkg ysnaqktill
      181 qvdqncvrns ydvfsllrlh raqcaikqtq vtvqkigkei eeklrltsts nelkkksecl
      241 qlkilvlqne lerqkkalgr evallhkqqi alqdkgsafs aehlklqlqk eslnelrkec
      301 takrelflkt naqltircrq llselsyiyp idlnehkdyf vcgvklpnse dfqakddgsi
      361 avalgytahl vsmisfflqv plrypiihkg srstikdnin dkltekeref plypkggekl
      421 qfdygvylln kniaqlryqh glgtpdlrqt lpnlknfmeh glmvrcikpq mscfqfgakp
      481 swkrqpltgn gwtsalqehs klrkgivata grgtdstths argdsknprq aylqtcvlqn
      541 rhh
//
LOCUS       XP_047293518            2505 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 192 kDa isoform X3 [Homo sapiens].
ACCESSION   XP_047293518
VERSION     XP_047293518.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437562.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2505
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..2505
                     /product="centrosomal protein of 192 kDa isoform X3"
                     /calculated_mol_wt=275489
     Region          201..251
                     /region_name="Plk4BD_Cep192"
                     /note="Plk4-binding domain found in centrosomal protein of
                     192 kDa (Cep192) and similar proteins; cd21856"
                     /db_xref="CDD:439317"
     Site            order(214..218,220..224,226..227,230..231,234,238,241)
                     /site_type="other"
                     /note="Plk4 binding site [polypeptide binding]"
                     /db_xref="CDD:439317"
     Region          1661..1724
                     /region_name="ASH"
                     /note="Abnormal spindle-like microcephaly-assoc'd,
                     ASPM-SPD-2-Hydin; cl13764"
                     /db_xref="CDD:449188"
     CDS             1..2505
                     /gene="CEP192"
                     /gene_synonym="PPP1R62"
                     /coded_by="XM_047437562.1:81..7598"
                     /db_xref="GeneID:55125"
                     /db_xref="HGNC:HGNC:25515"
                     /db_xref="MIM:616426"
ORIGIN      
        1 medfrgiaee sfpsfltnsl fgnsgilenv tlssnlglpv avstlardrs stdnrypdiq
       61 asylvegrfs vpsgsspgsq sdaeprerlq lsfqdddsis rkksyvesqr lsnalskqsa
      121 lqmetagpee epagateslq gqdlfnrasp leqaqdspid fhlqswmnnk epkivvldag
      181 khfedktlks dlshtsllen eklilptsle dssdddidde mfyddhleay feqlaipgmi
      241 yedlegpepp ekgfklptng lrqanengsl nckfqsenns slisldshss etthkesees
      301 qviclpgtsn sigtgdsrry tdgmlpfssg twgtekeien lkgivpdlns ecaskdvlvk
      361 tlraidvkln sdnfhdanan rggfdltdpv kqgaecphqn ktvlhmdgcl dtetptvsiq
      421 envdvaslkp isdsginftd aiwsptcerr tcechesiek nkdktdlpqs vvyqneegrw
      481 vtdlayytsf nskqnlnvsl sdemnedfrs gseafdliaq deeefnkehq fiqeenidah
      541 ntsvalgdts wgatinysll rksrstsdld kddasylrls lgeffaqrse algclgggnn
      601 vkrpsfgyfi rspekrepia lirksdvsrg nlekemahln hdlysgdlne qsqaqlsegs
      661 itlqveaves tsqvdendvt ltadkgkted tffmsnkpqr ykdklpdsgd smlristias
      721 aiaeasvntd psqlaamika lsnktrdktf qedekqkdys hvrhflpndl eksngsnald
      781 mekylkktev sryesalenf srasmsdtwd lslpkeqttq dihpvdlsat svsvrapeen
      841 taaivyveng esenqesfrt inssnsvtnr ennsavvdvk tcsidnklqd vgndekatsi
      901 stpsdsyssv rnpritslcl lkdceeirdn renqrqnecv seisnsekhv tfenhrivsp
      961 knsdlkntsp ehggrgsede qesfrpstsp lshsspseis gtsssgcale sfgsaaqqqq
     1021 ppceqelspl vcspagvsrl tyvsepessy pttatddale drksditsel sttiiqgspa
     1081 aleeramekl rekvpfqnrg kgtlssiiqn nsdtrkatet tslsskpeyv kpdfrwskdp
     1141 ssksgnllet sevgwtsnpe eldpirlall gksglscqvg satshpvscq epidedqris
     1201 pkdkstagre fsgqvshqtt senqctpips stvhssvadm qnmpaavhal ltqpslsaap
     1261 faqrylgtlp stgsttlpqc hagnatvcgf sgglpypava gepvqnsvav giclgsnigs
     1321 gwmgtsslcn pysntlnqnl lsttkpfpvp svgtncgiep wdsgvtsglg svrvpeelkl
     1381 phaccvgias qtllsvlnpt drwlqvsigv lsisvngekv dlstyrclvf knkaiirpha
     1441 teeikvlfip sspgvfrctf svaswpcstd aetivqaeal astvtltaia espvievete
     1501 kkdvldfgdl tyggwkalpl klinrthatv pirliinana vawrcftfsk esvrapveva
     1561 pcadvvtrla gpsvvnhmmp asydgqdpef lmiwvlfhsp kkqisssdil dsaeefsakv
     1621 dievdspnpt pvlrsvslra ragiarihap rdlqtmhfla kvassrkqhl plknagniev
     1681 yldikvpeqg shfsvdpknl llkpgeehev ivsftpkdpe aceerilkif vqpfgpqyev
     1741 vlkgevissg skplspgpcl dipsilsnkq flawggvplg rtqlqklalr nnsasttqhl
     1801 rllirgqdqd cfqlqntfgs eqrltsncei rihpkedifi svlfaptrls cmlarleikq
     1861 lgnrsqpgik ftiplsgygg tsnlilegvk klsdsymvtv nglvpgkesk ivfsvrntgs
     1921 raafvkavgf kdsqkkvlld pkvlrifpdk fvlkertqen vtliynpsdr ginnktatel
     1981 stvylfggde isrqqyrral lhkpemikqi lpehsvlqni nfveafqdel lvtevydlpq
     2041 rpndvqlfyg smckiilsvi gefrdcissr eflqpsskas lestsdlgas gkhggnvsld
     2101 vlpvkgpqgs pllsraarpp ldqlaseepw tvlpehlilv apspcdmakt grfqivnnsv
     2161 rllrfelcwp ahcltvtpqh gcvapesklq ilvspnssls tkqsmfpwsg liyihcddgq
     2221 kkivkvqire dltqvelltr ltskpfgils pvsepsvshl vkpmtkppst kveirnksit
     2281 fpttepgets esclelenhg ttdvkwhlss lappyvkgvd esgdvfraty aafrcspisg
     2341 lleshgiqkv sitflprgrg dyaqfwdvec hplkephmkh tlrfqlsgqs ieaenepena
     2401 clstdsliki dhlvkprrqa vseasaripe qldvtargvy apedvyrfrp tsvgesrtlk
     2461 vnlrnnsfit hslkflspre pfyvkhskys lsiqeiintf klnva
//
LOCUS       XP_047296952            1158 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor-interacting protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047296952
VERSION     XP_047296952.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440996.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1158
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..1158
                     /product="nuclear receptor-interacting protein 1 isoform
                     X1"
                     /calculated_mol_wt=126811
     Region          27..330
                     /region_name="NRIP1_repr_1"
                     /note="Nuclear receptor-interacting protein 1 repression
                     1; pfam15687"
                     /db_xref="CDD:434859"
     Region          411..738
                     /region_name="NRIP1_repr_2"
                     /note="Nuclear receptor-interacting protein 1 repression
                     2; pfam15688"
                     /db_xref="CDD:434860"
     Region          753..840
                     /region_name="NRIP1_repr_3"
                     /note="Nuclear receptor-interacting protein 1 repression
                     3; pfam15689"
                     /db_xref="CDD:406181"
     Region          849..1158
                     /region_name="NRIP1_repr_4"
                     /note="Nuclear receptor-interacting protein 1 repression
                     4; pfam15690"
                     /db_xref="CDD:434861"
     CDS             1..1158
                     /gene="NRIP1"
                     /gene_synonym="CAKUT3; RIP140"
                     /coded_by="XM_047440996.1:899..4375"
                     /db_xref="GeneID:8204"
                     /db_xref="HGNC:HGNC:8001"
                     /db_xref="MIM:602490"
ORIGIN      
        1 mthgeelgsd vhqdsivlty legllmhqaa ggsgtavdkk saghneedqn fnisgsafpt
       61 cqsngpvlnt htyqgsgmlh lkkarllqss edwnaakrkr lsdsimnlnv kkeallagmv
      121 dsvpkgkqds tllasllqsf ssrlqtvals qqirqslkeq gyalshdslk vekdlrcygv
      181 asshlktllk kskvkdqkpd tnlpdvtknl irdrfaesph hvgqsgtkvm seplscaarl
      241 qavasmvekr aspatspkps vacsqlalll sseahlqqys rehalktqna nqaaserlaa
      301 marlqengqk dvgsyqlpkg msshlngqar tsssklmask ssatvfqnpm giipsspkna
      361 gyknslernn ikqaannsll lhllksqtip kpmnghshse rgsifeesst pttideysdn
      421 npsftddssg dessysncvp idlsckhrte ksesdqpvsl dnftqsllnt wdpkvpdvdi
      481 kedqdtskns klnshqkvtl lqlllghkne envekntspq gvhndvskfn tqnyartsvi
      541 espstnrttp vstpplltss kagspinlsq hslvikwnsp pyvcstqsek ltntasnhsm
      601 dltkskdppg ekpaqnegaq nsatfsaskl lqnlaqcgmq ssmsveeqrp skqlltgntd
      661 kpigmidrln spllsnktna veenkafssq ptgpepglsg seienllerr tvlqlllgnp
      721 nkgksekkek tplrdestqe hseralseqi lmvkiksepc ddlqipntnv hlshdaksap
      781 flgmapavqr sapalpvsed fksepvspqd fsfsknglls rllrqnqdsy laddsdrshr
      841 nnemallesk nlcmvpkkrk lyteplenpf kkmknnivda annhsapevl ygsllnqeel
      901 kfsrndlefk ypaghgsase sehrswares ksfnvlkqll lsencvrdls phrsnsvads
      961 kkkghknnvt nskpefsiss lnglmysstq psscmdnrtf sypgvvktpv sptfpehlgc
     1021 agsrpesgll ngcsmpsekg pikwvitdae kneyekdspr ltktnpilyy mlqkggnsvt
     1081 sretqdkdiw reassaesvs qvtakeellp taetkasffn lrspynshmg nnasrphsan
     1141 gevygllgsv ltikkese
//
LOCUS       XP_047277125             213 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124901803 [Homo sapiens].
ACCESSION   XP_047277125
VERSION     XP_047277125.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421169.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 13% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..213
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..213
                     /product="uncharacterized protein LOC124901803"
                     /calculated_mol_wt=23157
     CDS             1..213
                     /gene="LOC124901803"
                     /coded_by="XM_047421169.1:1..642"
                     /db_xref="GeneID:124901803"
ORIGIN      
        1 matepclwhs rlsgwqpcrs kpgsplarva afwsvlpgll qelrpdqwpp tnfikrdsdd
       61 avqarlrtkp stawsspweg rqgrepllpp aatlsrkvvf sgtlvqqtal eerervslrs
      121 sgqvcllpvi kdsgslttgs spamhtaacr gtspsshppt gagaqepwct dmlaltlhyw
      181 gviktfvsdp gvscplpafm klwvatsfir kdl
//
LOCUS       XP_054184664             704 aa            linear   PRI 20-MAR-2023
DEFINITION  constitutive coactivator of peroxisome proliferator-activated
            receptor gamma isoform X8 [Homo sapiens].
ACCESSION   XP_054184664
VERSION     XP_054184664.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328689.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187553.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..704
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q27"
     Protein         1..704
                     /product="constitutive coactivator of peroxisome
                     proliferator-activated receptor gamma isoform X8"
                     /calculated_mol_wt=79635
     CDS             1..704
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /coded_by="XM_054328689.1:107..2221"
                     /db_xref="GeneID:84498"
                     /db_xref="HGNC:HGNC:21109"
                     /db_xref="MIM:612266"
ORIGIN      
        1 mgvrglqgfv gstcphictv vnfkelaehh rskypgctpt ivvdamcclr ywytpeswic
       61 ggqwreyfsa lrdfvktfta agiklifffd gmveqdkrde wvkrrlknnr eisrifhyik
      121 shkeqpgrnm ffipsglavf trfalktlgq etlcslqead yevasyglqh nclgilgedt
      181 dyliydtcpy fsiselcles ldtvmlcrek lceslglcva dlpllacllg ndiipegmfe
      241 sfrykclssy tsvkenfdkk gniilavsdh iskvlylyqg ekkleeilpl gpnkalfykg
      301 masyllpgqk spwffqkpkg vitldkqvis tssdaesree vpmcsdaesr qevpmctgpe
      361 srrevpvytd seprqevpmc sdpeprqevp tctgpesrre vpmcsdpepr qevpmctgpe
      421 arqevpmytd seprqevpmy tdseprqevp mytgseprqe vpmytgpesr qevpmytgpe
      481 srqevlirtd pesrqeimct gheskqevpi ctdpiskqed smcthaeinq klpvatdfef
      541 klealmctnp eikqedptnv gpevkqqvtm vsdteilkva rthhvqaesy lvynimssge
      601 iecsntlede ldqalpsqaf iyrpirqrvy sllledcqdv tstclavkew fvypgnplrh
      661 pdlvrplqmt ipgghalpgg facvycaglv pprkihlaac ksta
//
LOCUS       XP_054187962            2354 aa            linear   PRI 20-MAR-2023
DEFINITION  DBF4-type zinc finger-containing protein 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054187962
VERSION     XP_054187962.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331987.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_015495299.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.3"
     Protein         1..2354
                     /product="DBF4-type zinc finger-containing protein 2
                     isoform X1"
                     /calculated_mol_wt=265488
     CDS             1..2354
                     /gene="ZDBF2"
                     /gene_synonym="Slx9"
                     /coded_by="XM_054331987.1:217..7281"
                     /db_xref="GeneID:57683"
                     /db_xref="HGNC:HGNC:29313"
                     /db_xref="MIM:617059"
ORIGIN      
        1 mqkrqgycsy crvqynnleq hlfsaqhrsl trqsrrqict sslmerflqd vlqhhpyhcq
       61 essstqdeth vntgsssevv hlddafseee eededkvede dateerpsev sepieelhsr
      121 phksqegtqe vsvrpsviqk lekgqqqple fvhkigasvr kcnlvdigqa tnnrsnlvrp
      181 pvicnapasc lpessndrpv tanttslppa ahldsvskcd pnkvekyleq pdgasrnpvp
      241 sshvettsfs yqkhkesnrk slrmnsdklv lwkdvksqgk tlsaglkfhe rmgtkgslrv
      301 kspsklavnp nktdmpsnkg ifedtiaknh eeffsnmdct qeekhlvfnk tafweqkcsv
      361 ssemkfdcis lqsasdqpqe taqdlslwke eqidqednye srgsemsfdc sssfhsltdq
      421 skvsakevnl skevrtdvqy knnksyvski ssdcddilhl vtnqsqmivk eislqnarhi
      481 slvdqsyess ssetnfdcda spqstsdypq qsvtevnlpk evhiglvdkn ygssssevsa
      541 dsvfplqsvv drppvavtet klrkkahtsl vdnygsscse tsfdcdvsle svvdhpqltv
      601 kgrnlkgrqv hlkhkkrkps sakahldcdv slgtvadesq ravekinllk eknadlmdmn
      661 ceshgpemgf qadaqladqs qvaeierqkv dvdlenksvq ssrsslssds paslyhsahd
      721 epqealdevn lkelnidmev rsydcsssel tfdsdpplls vteqshldae gkerhidled
      781 escesdssei tfdsdiplys vidqpevavy eeetvdlesk snescvseit fdsdiplhsg
      841 ndhpevavke viqkeeyihl erkndepsgs eissdshapl hsvtnspeva vkklnpqkee
      901 qvhlenkene pidsevsldy niifhsvtgr sedpikeisl htkehmylen ksvfetslds
      961 dvplqaathk pevivketwl qrekhaefqg rstefsgskt sldsgvphys vtepqvavnk
     1021 inrkkqyvle nkndkcsgse iildsnvppq smtdqpqlaf lkekhvnlkd knsksgdski
     1081 tfdseqlqea vkkidqwkee viglknkine pstyklihhp dvsvqsvadq pkvaikhvnl
     1141 gnenhmylev knsqyscsem nldsgflgqs ivnrpqitil eqehielegk hnqccgsevs
     1201 fdsddplqsv adrlretvke islwkdeevd tedrrneakg feimydsdvl qpvagqpeev
     1261 vkevslwkeh vdlenkivkp tdsrinfdsh eplqsvtnki pgankeinll reehvclddk
     1321 gyvpsdseii yvsniplqsv ikqphileee hasledkssn syspeessds ndsfqaaade
     1381 lqkpvkeinl wkedhiyled ksyklgdfdv syashipvqf vtdqssvpvk einlqkkdhn
     1441 dlenkncevc gseikchscv hlqsevdqpq vsykeadlqk eehvvmeekt dqpsdsemmy
     1501 dsdvpfqivv nqfpgsvket hlpkvvlvdl vpgdsdyevi sddiplqlvt dppqltvkdi
     1561 scintecidi edkscdffgs evrcnckast psmtnqcket fkiinrkkdy iilgepscqs
     1621 cgsemnfnvd asdqsmtyes qgpdekmvky idsedkscgy ngskgkfnle dtshrtthrl
     1681 qkahkeaslr kdprnaglkg kscqssasav dfgassksal hrradkkkrs klkhrdlevs
     1741 cepdgfemnf qcapplpsdt dqpqetvkkr hpckkvssdl keknhdsqss svlkvdsvrn
     1801 lkkakdvied npdepvleal phvppsfvgk twsqimredd ikinalvkef regrfhcyfd
     1861 ddcetkkvss kgkkkvtwad lqgkedtapt qavsesddiv cgisdiddls valdkpchrh
     1921 ppaerppkqk grvasqcqta kishstqtsc knypvmkrki irqeedppks kcsrlqddrk
     1981 tkkkvkigtv efpasctkvl kpmqpkalvc vlsslniklk egeglpfpkm rhhswdndir
     2041 fickykrnif dyyeplikqi vispplsviv peferrnwvk ihfnrsnqns sagdndadgq
     2101 gsasaplmav parygfnshq gtsdsslfle eskvlharel pkkrnfqltf lnhdvvkisp
     2161 ksvrnklles qskkkihgkr vttssnklgf pkkvykpiil qqkprkasek qsiwirtkps
     2221 diirkyisky svflrhryqs rsaflgrylk kkksvvsrlk kakrtakvll nssvppagae
     2281 elssamanpp pkrpvrascr varrrkktde syhgrqkgps tpvraydlrs ssclqqrerm
     2341 mtrlanklrg nevk
//
LOCUS       XP_054191157            1152 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 6 isoform X21
            [Homo sapiens].
ACCESSION   XP_054191157
VERSION     XP_054191157.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335182.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1152
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1152
                     /product="pleckstrin homology domain-containing family A
                     member 6 isoform X21"
                     /calculated_mol_wt=129029
     CDS             1..1152
                     /gene="PLEKHA6"
                     /gene_synonym="PEPP-3; PEPP3"
                     /coded_by="XM_054335182.1:740..4198"
                     /db_xref="GeneID:22874"
                     /db_xref="HGNC:HGNC:17053"
                     /db_xref="MIM:607771"
ORIGIN      
        1 madeidwldl pgrwaygvdg ggriffinde ekstswvhpg tkspiqsght scpglpkgwe
       61 vdstqegavy finhnerrnt flhpvtgqvp eenkkfdlki stldmsnktg gkrpattnsd
      121 ipnhnmvsev pperpsvrat rtarkaiafg krshsmkrnp napvtkagwl fkqassgvkq
      181 wnkrwfvlvd rclfyykdek eesilgsipl lsfrvaavqp sdnisrkhtf kvtvcwvdea
      241 easstrclsl qaehagvrty ffsaespeeq eawiqamgea arvqippaqk svpqavrhsh
      301 ekpdsenvpp skhhqqpphn slpkpepeak trgegdgrgc ekaerrperp evkkeppvka
      361 nglpagpepa sepgspypeg prvpgggeqp aqpngwqyhs psrpgstafp sqdgetgghr
      421 rsfpprtnpd kiaqrkssmn qlqqwvnlrr gvpppedlrs psrfypvsrr vpeyygpyss
      481 qypddyqyyp pgvrpesics mpaydrispp waledkrhaf rngggpayql rewkepasyg
      541 rqdatvwips psrqpvyyde ldaassslrr lslqprshsv prspsqgsys rariyspvrs
      601 psarferlpp rsediyadpa ayvmrrsiss pkvppypevf rdslhtykln eqdtdkllgk
      661 lceqnkvvre qdrlvqqlra ekeslesalm gthqelemfg sqpaypeklr hkkdslqnql
      721 inirvelsqa ttaltnstie yehlesevsa lhddlweqln ldtqnevlnr qiqkeiwriq
      781 dvmeglrknn psrgtdtakh rgglgpsaty ssnspaspls sasltsplsp fslvsgsqgs
      841 ptkpgsnepk anyeqskkdp hqtlpldtpr dislvptrqe veaekqaaln kvgvvpprtk
      901 sptddevtps avvrrnasgl tnglssqqer pksavfpgeg kvkmsveeqi drmrrhqsgs
      961 mrekrrslql paspapdpsp rpaykvvrrh rsihevdisn leaalraeep gghayetpre
     1021 eiarlrkmel epqhydvdin kelstpdkvl iperyidlep dtplspeelk ekqkkverik
     1081 tliakssmqn vvpigegdsv dvpqdsesql qeqekrieis calateasrr grmlsvqala
     1141 eanavklhra tf
//
LOCUS       XP_054194147             761 aa            linear   PRI 20-MAR-2023
DEFINITION  semaphorin-4A isoform X2 [Homo sapiens].
ACCESSION   XP_054194147
VERSION     XP_054194147.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338172.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..761
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..761
                     /product="semaphorin-4A isoform X2"
                     /calculated_mol_wt=83443
     CDS             1..761
                     /gene="SEMA4A"
                     /gene_synonym="CORD10; RP35; SEMAB; SEMB"
                     /coded_by="XM_054338172.1:409..2694"
                     /db_xref="GeneID:64218"
                     /db_xref="HGNC:HGNC:10729"
                     /db_xref="MIM:607292"
ORIGIN      
        1 malpalgldp wsllglflfq llqlllpttt aggggqgpmp rvryyagder ralsffhqkg
       61 lqdfdtllls gdgntlyvga reailaldiq dpgvprlknm ipwpasdrkk secafkkksn
      121 etqcfnfirv lvsynvthly tcgtfafspa ctfielqdsy llpisedkvm egkgqspfdp
      181 ahkhtavlvd gmlysgtmnn flgsepilmr tlgsqpvlkt dnflrwlhhd asfvaaipst
      241 qvvyfffeet asefdfferl htsrvarvck ndvggekllq kkwttflkaq llctqpgqlp
      301 fnvirhavll padsptaphi yavftsqwqv ggtrssavca fslldiervf kgkykelnke
      361 tsrwttyrgp etnprpgscs vgpssdkalt fmkdhflmde qvvgtpllvk sgveytrlav
      421 etaqgldghs hlvmylgttt gslhkavvsg dssahlveei qlfpdpepvr nlqlaptqga
      481 vfvgfsggvw rvprancsvy escvdcvlar dphcawdpes rtccllsapn lnswkqdmer
      541 gnpewacasg pmsrslrpqs rpqiikevla vpnsilelpc phlsalasyy wshgpaavpe
      601 asstvyngsl llivqdgvgg lyqcwateng fsypvisywv dsqdqtlald pelagipreh
      661 vkvpltrvsg gaalaaqqsy wphfvtvtvl falvlsgali ilvasplral rargkvqgce
      721 tlrpgekapl sreqhlqspk ecrtsasdvd adnnclgtev a
//
LOCUS       XP_054220616             524 aa            linear   PRI 20-MAR-2023
DEFINITION  arginyl-tRNA--protein transferase 1 isoform X10 [Homo sapiens].
ACCESSION   XP_054220616
VERSION     XP_054220616.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364641.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..524
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..524
                     /product="arginyl-tRNA--protein transferase 1 isoform X10"
                     /calculated_mol_wt=59441
     CDS             1..524
                     /gene="ATE1"
                     /coded_by="XM_054364641.1:579..2153"
                     /db_xref="GeneID:11101"
                     /db_xref="HGNC:HGNC:782"
                     /db_xref="MIM:607103"
ORIGIN      
        1 mqslevrimk tkwknassld lngenqqdan glcdmitvlk grrpgstpns dsgmwahsmt
       61 vqdyqdlidr gwrrsgkyvy kpvmnqtccp qytircrplq fqpskshkkv lkkmlkflak
      121 gevpkgsced epmdstmdda vagdfalink ldiqcdlktl sddikesles egknskkeep
      181 qellqsqdfv geklgsgeps hsvkvhtvpk pgkgadlskp pcrkakeirk erkrlklmqq
      241 npagelegfq aqghppslfp pkaksnqpks ledlifeslp enashklevr lvpvsfedpe
      301 fkssfsqsfs lyvkyqvaih qdppdecgkt eaetppngpd cgygsfhqqy wldgkiiavg
      361 vidilpncvs svylyydpdy sflslgvysa lreiaftrql hektsqlsyy ymgfyihscp
      421 kmkykgqyrp sdllcpetyv wvpieqclps lenskycrfn qdpeavdedr stepdrlqvf
      481 hkraimpygv ykkqqkdpse eaavlqyasl vgqkcserml lfrn
//
LOCUS       XP_054177454             276 aa            linear   PRI 20-MAR-2023
DEFINITION  kallikrein-10 isoform X1 [Homo sapiens].
ACCESSION   XP_054177454
VERSION     XP_054177454.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321479.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..276
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..276
                     /product="kallikrein-10 isoform X1"
                     /calculated_mol_wt=30007
     CDS             1..276
                     /gene="KLK10"
                     /gene_synonym="NES1; PRSSL1"
                     /coded_by="XM_054321479.1:235..1065"
                     /db_xref="GeneID:5655"
                     /db_xref="HGNC:HGNC:6358"
                     /db_xref="MIM:602673"
ORIGIN      
        1 mraphlhlsa asgaralakl lpllmaqlwa aeaallpqnd trldpeayga pcargsqpwq
       61 vslfnglsfh cagvlvdqsw vltaahcgnk plwarvgddh llllqgeqlr rttrsvvhpk
      121 yhqgsgpilp rrtdehdlml lklarpvvpg prvralqlpy rcaqpgdqcq vagwgttaar
      181 rvkynkgltc ssitilspke cevfypgvvt nnmicagldr gqdpcqsdsg gplvcdetlq
      241 gilswgvypc gsaqhpavyt qickymswin kvirsn
//
LOCUS       XP_054199188             863 aa            linear   PRI 20-MAR-2023
DEFINITION  alsin isoform X7 [Homo sapiens].
ACCESSION   XP_054199188
VERSION     XP_054199188.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343213.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..863
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..863
                     /product="alsin isoform X7"
                     /calculated_mol_wt=97946
     CDS             1..863
                     /gene="ALS2"
                     /gene_synonym="ALS2CR6; ALSJ; IAHSP; PLSJ"
                     /coded_by="XM_054343213.1:104..2695"
                     /db_xref="GeneID:57679"
                     /db_xref="HGNC:HGNC:443"
                     /db_xref="MIM:606352"
ORIGIN      
        1 mggfqllakp aidflnknqe llqdlsevnd entqlmeiln tlfflpirrl hnyakvllkl
       61 atcfevaspe yqklqdsssc yeclalhlgr krkeaeytlg fwktfpgkmt dslrkperrl
      121 lcessnrals lqhagrfsvn wfilfndalv haqfsthhvf platlwaepl seeaggvngl
      181 kittpeeqft lisstpqekt kwlraisqav dqalrgmsdl ppygsgssvq rqeppisrsa
      241 kytfykdprl kdatydgrwl sgkphgrgvl kwpdgkmysg mfrngledgy geyripnkam
      301 nkedhyvghw kegkmcgqgv ysyasgevfe gcfqdnmrhg hgllrsgklt ssspsmfigq
      361 wvmdkkagyg vfdditrgek ymgmwqddvc qgngvvvtqf glyyegnfhl nkmmgngvll
      421 seddtiyege fsddwtlsgk gtltmpngdy iegyfsgewg sgikitgtyf kpslyesdkd
      481 rpkvfrklgn lavpadekwk avfdecwrql gcegpgqgev wkawdniava lttsrrqhrd
      541 speilsrsqt qtleslefip qhvgafsvek yddirkylik acdtplhplg rlvetlvavy
      601 rmtyvgvgan rrllqeavke iksylkrifq lvrflfpelp eegstiplsa plpterksfc
      661 tgksdsrses pepgyvvtss glllpvllpr lypplfmlya ldndreediy wecvlrlnkq
      721 pdiallgflg vqrkfwpatl silgeskkvl pttkdacfas aveclqqist tftpsdklkv
      781 iqqtfeeisq svlaslhedf lwsmddlfpv flyvvlrari rnlgsevhli edlmdpylqh
      841 geqgimfttl kacyyqiqre kln
//
LOCUS       XP_054203191             404 aa            linear   PRI 20-MAR-2023
DEFINITION  cAMP-dependent protein kinase type II-alpha regulatory subunit
            isoform X1 [Homo sapiens].
ACCESSION   XP_054203191
VERSION     XP_054203191.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347216.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..404
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..404
                     /product="cAMP-dependent protein kinase type II-alpha
                     regulatory subunit isoform X1"
                     /calculated_mol_wt=45387
     CDS             1..404
                     /gene="PRKAR2A"
                     /gene_synonym="PKR2; PRKAR2"
                     /coded_by="XM_054347216.1:279..1493"
                     /db_xref="GeneID:5576"
                     /db_xref="HGNC:HGNC:9391"
                     /db_xref="MIM:176910"
ORIGIN      
        1 mshiqippgl tellqgytve vlrqqppdlv efaveyftrl rearapasvl paatprqslg
       61 hpppepgpdr vadakgdses eededlevpv psrfnrrvsv caetynpdee eedtdprvih
      121 pktdeqrcrl qeackdillf knldqeqlsq vldamferiv kadehvidqg ddgdnfyvie
      181 rgtydilvtk dnqtrsvgqy dnrgsfgela lmyntpraat ivatsegslw gldrvtfrri
      241 ivknnakkrk mfesfiesvp llkslevser mkivdvigek iykdgeriit qgekadsfyi
      301 iesgevsili rsrtksnkdg gnqeveiarc hkgqyfgela lvtnkpraas ayavgdvkcl
      361 vmdvqaferl lgpcmdimkr nishyeeqlv kmfgssvdlg nlgq
//
LOCUS       XP_054209297             396 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor 7 isoform X8 [Homo sapiens].
ACCESSION   XP_054209297
VERSION     XP_054209297.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353322.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..396
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..396
                     /product="transcription factor 7 isoform X8"
                     /calculated_mol_wt=42826
     CDS             1..396
                     /gene="TCF7"
                     /gene_synonym="TCF-1"
                     /coded_by="XM_054353322.1:227..1417"
                     /db_xref="GeneID:6932"
                     /db_xref="HGNC:HGNC:11639"
                     /db_xref="MIM:189908"
ORIGIN      
        1 mpqldsgggg agggddlgap dellafqdeg eeqddksrds aagperdlae lksslvnese
       61 gaaggagipg vpgagagarg eaealgreha aqrlfpdklp epledglkap ectsgmyket
      121 vysafnllmh ypppsgagqh pqpqpplhka nqpphgvpql slyehfnsph ptpapadisq
      181 kqvhrplqtp dlsgfyslts gsmgqlphtv swpspplypl spscgyrqhf paptaapgap
      241 yprfthpslm lgsgvpghpa aiphpaivpp sgkqelqpfd rnlktqaesk aekeakkpti
      301 kkplnafmly mkemrakvia ectlkesaai nqilgrrwha lsreeqakyy elarkerqlh
      361 mqlypgwsar dnygkkkrrs rekhqesttd nslhys
//
LOCUS       XP_054213002             466 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA-binding protein Ikaros isoform X19 [Homo sapiens].
ACCESSION   XP_054213002
VERSION     XP_054213002.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357027.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..466
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..466
                     /product="DNA-binding protein Ikaros isoform X19"
                     /calculated_mol_wt=52152
     CDS             1..466
                     /gene="IKZF1"
                     /gene_synonym="CVID13; Hs.54452; IK1; IKAROS; LyF-1; LYF1;
                     PPP1R92; PRO0758; ZNFN1A1"
                     /coded_by="XM_054357027.1:1..1401"
                     /db_xref="GeneID:10320"
                     /db_xref="HGNC:HGNC:13176"
                     /db_xref="MIM:603023"
ORIGIN      
        1 megailtsav srwegretrd nlrtmdadeg qdmsqvsgke sppvsdtpde gdepmpiped
       61 lsttsggqqs sksdrvvvty gaddfrdfha iipksfsrer pfqcnqcgas ftqkgnllrh
      121 iklhsgekpf kchlcnyacr rrdaltghlr thsvgkphkc gycgrsykqr ssleehkerc
      181 hnylesmglp gtlypvikee tnhsemaedl ckigserslv ldrlasnvak rdkglsdtpy
      241 dssasyeken emmkshvmdq ainnainylg aeslrplvqt ppggsevvpv ispmyqlhkp
      301 laegtprsnh saqdsavenl lllskaklvp sereaspsns cqdstdtesn neeqrsgliy
      361 ltnhiaphar nglslkeehr aydllraase nsqdalrvvs tsgeqmkvyk cehcrvlfld
      421 hvmytihmgc hgfrdpfecn mcgyhsqdry efsshitrge hrfhms
//
LOCUS       XP_054183439             595 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat and calponin homology domain-containing protein
            2 isoform X2 [Homo sapiens].
ACCESSION   XP_054183439
VERSION     XP_054183439.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327464.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..595
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..595
                     /product="leucine-rich repeat and calponin homology
                     domain-containing protein 2 isoform X2"
                     /calculated_mol_wt=65684
     CDS             1..595
                     /gene="LRCH2"
                     /gene_synonym="dA204F4.4"
                     /coded_by="XM_054327464.1:56..1843"
                     /db_xref="GeneID:57631"
                     /db_xref="HGNC:HGNC:29292"
ORIGIN      
        1 maasqggggn sggggcgggg ssggcgtagg ggggaggggg ggggtlvvpi pvptlfgqpf
       61 pngppwnpgs lqpqhtvrsl draleeagss gilslsgrkl rdfpgsgydl tdttqadlsr
      121 nrfteipsdv wlfapletln lyhnciktip eaiknlqmlt ylnisrnlls tlpkylfdlp
      181 lkvlvvsnnk lvsipeeigk lkdlmeldis cneiqvlpqq mgklhslrel nirrnnlhvl
      241 pdelgdlplv kldfscnkvt eipvcyrklh hlqviildnn plqvppaqic lkgkvhifky
      301 lniqaccrmd kkpdsldlps lskrmpsqpl tdsmedfypn knhgpdsgig sdngekrlst
      361 tepsdddtvs lhsqvsesnr eqtsrndshi igsktdsqkd qevydfvdpn tedvavpeqg
      421 nahigsfvsf fkgkekcsek srkneelgde krlekeqlla eeedddlkev tdlrkiaaql
      481 lqqeqknril nhstsvmrnk pkqtveceks vsadevnspl spltwqplen qkdqideqpw
      541 peshpiiwqs eerrrskqir keyfkdpsem ktqrprenrm fmlslmkemn scgdt
//
LOCUS       XP_047303141             308 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-specific Y-encoded protein 3 isoform X4 [Homo sapiens].
ACCESSION   XP_047303141
VERSION     XP_047303141.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047447185.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060948) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Homo sapiens"
                     /isolate="NA24385"
                     /bio_material="CORIELL:NA24385"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /sex="male"
                     /tissue_type="B-Lymphocyte"
     Protein         1..308
                     /product="testis-specific Y-encoded protein 3 isoform X4"
                     /calculated_mol_wt=34970
     Region          126..288
                     /region_name="NAP"
                     /note="Nucleosome assembly protein (NAP); cl08298"
                     /db_xref="CDD:447601"
     CDS             1..308
                     /gene="LOC124905625"
                     /coded_by="XM_047447185.1:15..941"
                     /db_xref="GeneID:124905625"
ORIGIN      
        1 mrpegsltyr vperlrqgfc gvgraaqalv casakegtaf rmeavqegaa gveseqaalg
       61 eeavlllddi maevevvaee eglverreea qraqqavpgp gpmtpesale ellavqvele
      121 pvnaqarkaf srqrekmerr rkphldrrga viqsvpgfwa nvianhpqms alitdededm
      181 lsymvsleve eekhpvhlck imlffrsnpy fqnkvitkey lvniteyras hstpiewypd
      241 yeveayrrrh hnsslnffnw fsdhnfagsn kiaeilckdl wrnplqyykr mkppeegtet
      301 sgdsqlls
//
LOCUS       NP_001305968             166 aa            linear   PRI 10-APR-2023
DEFINITION  fatty acid-binding protein, brain isoform 2 [Homo sapiens].
ACCESSION   NP_001305968 XP_005266915
VERSION     NP_001305968.1
DBSOURCE    REFSEQ: accession NM_001319039.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 166)
  AUTHORS   Umaru BA, Kagawa Y, Ohsaki Y, Pan Y, Chen CT, Chen DK, Abe T, Shil
            SK, Miyazaki H, Kobayashi S, Maekawa M, Yamamoto Y, Wannakul T,
            Yang S, Bazinet RP and Owada Y.
  TITLE     Oleic acid-bound FABP7 drives glioma cell proliferation through
            regulation of nuclear lipid droplet formation
  JOURNAL   FEBS J 290 (7), 1798-1821 (2023)
   PUBMED   36325660
  REMARK    GeneRIF: Oleic acid-bound FABP7 drives glioma cell proliferation
            through regulation of nuclear lipid droplet formation.
REFERENCE   2  (residues 1 to 166)
  AUTHORS   Tian X, Yang H, Fang Q, Quan H, Lu H and Wang X.
  TITLE     Circ_ZFR affects FABP7 expression to regulate breast cancer
            progression by acting as a sponge for miR-223-3p
  JOURNAL   Thorac Cancer 13 (9), 1369-1380 (2022)
   PUBMED   35355424
  REMARK    GeneRIF: Circ_ZFR affects FABP7 expression to regulate breast
            cancer progression by acting as a sponge for miR-223-3p.
REFERENCE   3  (residues 1 to 166)
  AUTHORS   Bai Q, Yang X, Li Q, Chen W, Tian H, Lian R, Liu X, Wang S and Yang
            Y.
  TITLE     Metastatic Tumor Cell-Specific FABP7 Promotes NSCLC Metastasis via
            Inhibiting beta-Catenin Degradation
  JOURNAL   Cells 11 (5), 805 (2022)
   PUBMED   35269427
  REMARK    GeneRIF: Metastatic Tumor Cell-Specific FABP7 Promotes NSCLC
            Metastasis via Inhibiting beta-Catenin Degradation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 166)
  AUTHORS   Kagawa Y, Umaru BA, Kanamori M, Zama R, Shil SK, Miyazaki H,
            Kobayashi S, Wannakul T, Yang S, Tominaga T and Owada Y.
  TITLE     Nuclear FABP7 regulates cell proliferation of wild-type IDH1 glioma
            through caveolae formation
  JOURNAL   Mol Oncol 16 (1), 289-306 (2022)
   PUBMED   34716958
  REMARK    GeneRIF: Nuclear FABP7 regulates cell proliferation of wild-type
            IDH1 glioma through caveolae formation.
REFERENCE   5  (residues 1 to 166)
  AUTHORS   Lock FE, Rebollo R, Miceli-Royer K, Gagnier L, Kuah S, Babaian A,
            Sistiaga-Poveda M, Lai CB, Nemirovsky O, Serrano I, Steidl C,
            Karimi MM and Mager DL.
  TITLE     Distinct isoform of FABP7 revealed by screening for
            retroelement-activated genes in diffuse large B-cell lymphoma
  JOURNAL   Proc Natl Acad Sci U S A 111 (34), E3534-E3543 (2014)
   PUBMED   25114248
  REMARK    GeneRIF: identified 98 transposable element-FABP7 gene chimeric
            transcripts that were exclusively expressed in primary diffuse
            large B-cell lymphoma (DLBCL) cases and confirmed several in
            DLBCL-derived cell lines
            Erratum:[Proc Natl Acad Sci U S A. 2015 Aug 18;112(33):E4630. PMID:
            26159417]
REFERENCE   6  (residues 1 to 166)
  AUTHORS   Shimizu F, Watanabe TK, Shinomiya H, Nakamura Y and Fujiwara T.
  TITLE     Isolation and expression of a cDNA for human brain fatty
            acid-binding protein (B-FABP)
  JOURNAL   Biochim Biophys Acta 1354 (1), 24-28 (1997)
   PUBMED   9375786
REFERENCE   7  (residues 1 to 166)
  AUTHORS   Shi YE, Ni J, Xiao G, Liu YE, Fuchs A, Yu G, Su J, Cosgrove JM,
            Xing L, Zhang M, Li J, Aggarwal BB, Meager A and Gentz R.
  TITLE     Antitumor activity of the novel human breast cancer growth
            inhibitor, mammary-derived growth inhibitor-related gene, MRG
  JOURNAL   Cancer Res 57 (15), 3084-3091 (1997)
   PUBMED   9242429
REFERENCE   8  (residues 1 to 166)
  AUTHORS   Borchers T, Hohoff C, Buhlmann C and Spener F.
  TITLE     Heart-type fatty acid binding protein - involvement in growth
            inhibition and differentiation
  JOURNAL   Prostaglandins Leukot Essent Fatty Acids 57 (1), 77-84 (1997)
   PUBMED   9250612
  REMARK    Review article
REFERENCE   9  (residues 1 to 166)
  AUTHORS   Xu LZ, Sanchez R, Sali A and Heintz N.
  TITLE     Ligand specificity of brain lipid-binding protein
  JOURNAL   J Biol Chem 271 (40), 24711-24719 (1996)
   PUBMED   8798739
REFERENCE   10 (residues 1 to 166)
  AUTHORS   Young JK, Baker JH and Muller T.
  TITLE     Immunoreactivity for brain-fatty acid binding protein in
            gomori-positive astrocytes
  JOURNAL   Glia 16 (3), 218-226 (1996)
   PUBMED   8833192
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI860090.1, AL512688.1 and
            AL645811.2.
            On Jan 21, 2016 this sequence version replaced XP_005266915.1.
            
            Summary: The gene encodes a small, highly conserved cytoplasmic
            protein that bind long-chain fatty acids and other hydrophobic
            ligands. The encoded protein is important in the establishment of
            the radial glial fiber in the developing brain. Alternative
            splicing and promoter usage results in multiple transcript variants
            encoding different isoforms. Pseudogenes of this gene are found on
            multiple chromosomes. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (2) differs in the 3' coding
            region and 3' UTR compared to variant 1. The encoded isoform (2)
            has a distinct C-terminus and is longer than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL512688.1, SRR1803614.196798.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..166
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.31"
     Protein         1..166
                     /product="fatty acid-binding protein, brain isoform 2"
                     /note="mammary-derived growth inhibitor-related; brain
                     lipid-binding protein; brain-type fatty acid-binding
                     protein; hypothetical protein DKFZp547J2313"
                     /calculated_mol_wt=18698
     Region          2..116
                     /region_name="lipocalin_FABP"
                     /note="lipocalin/cytosolic fatty acid-binding protein
                     family; cl10502"
                     /db_xref="CDD:447910"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylvaline.
                     /evidence=ECO:0000250|UniProtKB:Q09139; propagated from
                     UniProtKB/Swiss-Prot (O15540.3)"
     Site            order(5,9,41,43,50,52,54,61,63,65,94,96,103,105,107,114,
                     116)
                     /site_type="other"
                     /note="ligand binding cavity [chemical binding]"
                     /db_xref="CDD:381182"
     CDS             1..166
                     /gene="FABP7"
                     /gene_synonym="B-FABP; BLBP; FABPB; MRG"
                     /coded_by="NM_001319039.2:80..580"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS83121.1"
                     /db_xref="GeneID:2173"
                     /db_xref="HGNC:HGNC:3562"
                     /db_xref="MIM:602965"
ORIGIN      
        1 mveafcatwk ltnsqnfdey mkalgvgfat rqvgnvtkpt viisqegdkv virtlstfkn
       61 teisfqlgee fdettaddrn cksvvsldgd klvhiqkwdg ketnfvreik dgkmvmvsnd
      121 nspfflvffs sphtshllps sslllpffll psffnntsla rffnym
//
LOCUS       NP_000536                631 aa            linear   PRI 10-APR-2023
DEFINITION  hepatocyte nuclear factor 1-alpha isoform 2 [Homo sapiens].
ACCESSION   NP_000536
VERSION     NP_000536.6
DBSOURCE    REFSEQ: accession NM_000545.8
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 631)
  AUTHORS   Du H, Zou NY, Zuo HL, Zhang XY and Zhu SC.
  TITLE     YTHDF3 mediates HNF1alpha regulation of cervical cancer
            radio-resistance by promoting RAD51D translation in an
            m6A-dependent manner
  JOURNAL   FEBS J 290 (7), 1920-1935 (2023)
   PUBMED   36380687
  REMARK    GeneRIF: YTHDF3 mediates HNF1alpha regulation of cervical cancer
            radio-resistance by promoting RAD51D translation in an
            m6A-dependent manner.
REFERENCE   2  (residues 1 to 631)
  AUTHORS   Stalbow LA, Preuss MH, Smit RAJ, Chami N, Bjorkhaug L, Aukrust I,
            Gloyn AL and Loos RJF.
  TITLE     The contribution of functional HNF1A variants and polygenic
            susceptibility to risk of type 2 diabetes in ancestrally diverse
            populations
  JOURNAL   Diabetologia 66 (1), 116-126 (2023)
   PUBMED   36216889
  REMARK    GeneRIF: The contribution of functional HNF1A variants and
            polygenic susceptibility to risk of type 2 diabetes in ancestrally
            diverse populations.
REFERENCE   3  (residues 1 to 631)
  AUTHORS   Argemi J, Kedia K, Gritsenko MA, Clemente-Sanchez A, Asghar A,
            Herranz JM, Liu ZX, Atkinson SR, Smith RD, Norden-Krichmar TM, Day
            LZ, Stolz A, Tayek JA, Bataller R, Morgan TR and Jacobs JM.
  CONSRTM   Southern California Alcoholic Hepatitis Consortium and the InTeam
            Consortium
  TITLE     Integrated Transcriptomic and Proteomic Analysis Identifies Plasma
            Biomarkers of Hepatocellular Failure in Alcohol-Associated
            Hepatitis
  JOURNAL   Am J Pathol 192 (12), 1658-1669 (2022)
   PUBMED   36243044
  REMARK    GeneRIF: Integrated Transcriptomic and Proteomic Analysis
            Identifies Plasma Biomarkers of Hepatocellular Failure in
            Alcohol-Associated Hepatitis.
REFERENCE   4  (residues 1 to 631)
  AUTHORS   Liang T, Wang X, Liu Y, Ai H, Wang Q, Wang X, Wei X, Song Y and Yin
            Q.
  TITLE     Decreased TCF1 and BCL11B expression predicts poor prognosis for
            patients with chronic lymphocytic leukemia
  JOURNAL   Front Immunol 13, 985280 (2022)
   PUBMED   36211334
  REMARK    GeneRIF: Decreased TCF1 and BCL11B expression predicts poor
            prognosis for patients with chronic lymphocytic leukemia.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 631)
  AUTHORS   Lau HH, Ng NHJ, Loo LSW, Jasmen JB and Teo AKK.
  TITLE     The molecular functions of hepatocyte nuclear factors - In and
            beyond the liver
  JOURNAL   J Hepatol 68 (5), 1033-1048 (2018)
   PUBMED   29175243
  REMARK    Review article
REFERENCE   6  (residues 1 to 631)
  AUTHORS   Anik,A., Catli,G., Abaci,A. and Bober,E.
  TITLE     Maturity-onset diabetes of the young (MODY): an update
  JOURNAL   J Pediatr Endocrinol Metab 28 (3-4), 251-263 (2015)
   PUBMED   25581748
  REMARK    Review article
REFERENCE   7  (residues 1 to 631)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29792621
REFERENCE   8  (residues 1 to 631)
  AUTHORS   Szpirer C, Riviere M, Cortese R, Nakamura T, Islam MQ, Levan G and
            Szpirer J.
  TITLE     Chromosomal localization in man and rat of the genes encoding the
            liver-enriched transcription factors C/EBP, DBP, and HNF1/LFB-1
            (CEBP, DBP, and transcription factor 1, TCF1, respectively) and of
            the hepatocyte growth factor/scatter factor gene (HGF)
  JOURNAL   Genomics 13 (2), 293-300 (1992)
   PUBMED   1535333
REFERENCE   9  (residues 1 to 631)
  AUTHORS   Bach I, Mattei MG, Cereghini S and Yaniv M.
  TITLE     Two members of an HNF1 homeoprotein family are expressed in human
            liver
  JOURNAL   Nucleic Acids Res 19 (13), 3553-3559 (1991)
   PUBMED   1677179
REFERENCE   10 (residues 1 to 631)
  AUTHORS   Bach I, Galcheva-Gargova Z, Mattei MG, Simon-Chazottes D, Guenet
            JL, Cereghini S and Yaniv M.
  TITLE     Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal
            localization of its gene in man and mouse
  JOURNAL   Genomics 8 (1), 155-164 (1990)
   PUBMED   1707031
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079602.15.
            On Nov 30, 2019 this sequence version replaced NP_000536.5.
            
            Summary: The protein encoded by this gene is a transcription factor
            required for the expression of several liver-specific genes. The
            encoded protein functions as a homodimer and binds to the inverted
            palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of
            maturity onset diabetes of the young type 3 (MODY3) and also can
            result in the appearance of hepatic adenomas. Alternative splicing
            results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Apr 2015].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.531452.1, M57732.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000257555.11/ ENSP00000257555.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..631
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     Protein         1..631
                     /product="hepatocyte nuclear factor 1-alpha isoform 2"
                     /note="hepatic nuclear factor 1; albumin proximal factor;
                     hepatocyte nuclear factor 1-alpha; transcription factor 1,
                     hepatic; interferon production regulator factor;
                     liver-specific transcription factor LF-B1"
                     /calculated_mol_wt=67256
     Region          1..31
                     /region_name="Dimerization"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2)"
     Region          8..168
                     /region_name="HNF-1_N"
                     /note="Hepatocyte nuclear factor 1 (HNF-1), N-terminus;
                     pfam04814"
                     /db_xref="CDD:428137"
     Region          40..81
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2)"
     Site            70
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P22361; propagated from
                     UniProtKB/Swiss-Prot (P20823.2)"
     Site            74
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P22361; propagated from
                     UniProtKB/Swiss-Prot (P20823.2)"
     Site            93
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P20823.2)"
     Region          130..132
                     /region_name="Interaction with DNA"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2)"
     Region          143..149
                     /region_name="Interaction with DNA"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2)"
     Region          155..158
                     /region_name="Interaction with DNA"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2)"
     Region          183..205
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2)"
     Region          197..205
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2)"
     Region          200..273
                     /region_name="homeodomain"
                     /note="Homeodomain; DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; cd00086"
                     /db_xref="CDD:238039"
     Site            order(200..204,206,223,229,263,265..266,269..270,272..273)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Site            order(202,205,266,269..270,273)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          203..206
                     /region_name="Interaction with DNA"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2)"
     Site            247
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P20823.2)"
     Region          263..265
                     /region_name="Interaction with DNA"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2)"
     Region          270..273
                     /region_name="Interaction with DNA"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2)"
     Region          282..540
                     /region_name="HNF-1B_C"
                     /note="Hepatocyte nuclear factor 1 (HNF-1), beta isoform
                     C-terminus; pfam04812"
                     /db_xref="CDD:428135"
     Region          283..358
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2)"
     Site            313
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P22361; propagated from
                     UniProtKB/Swiss-Prot (P20823.2)"
     Region          542..630
                     /region_name="HNF-1A_C"
                     /note="Hepatocyte nuclear factor 1 (HNF-1), alpha isoform
                     C-terminus; pfam04813"
                     /db_xref="CDD:428136"
     Region          545..573
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2)"
     CDS             1..631
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha;
                     HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /coded_by="NM_000545.8:227..2122"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS9209.1"
                     /db_xref="GeneID:6927"
                     /db_xref="HGNC:HGNC:11621"
                     /db_xref="MIM:142410"
ORIGIN      
        1 mvsklsqlqt ellaallesg lskealiqal gepgpyllag egpldkgesc gggrgelael
       61 pnglgetrgs edetdddged ftppilkele nlspeeaahq kavvetllqe dpwrvakmvk
      121 sylqqhnipq revvdttgln qshlsqhlnk gtpmktqkra alytwyvrkq revaqqftha
      181 gqgglieept gdelptkkgr rnrfkwgpas qqilfqayer qknpskeere tlveecnrae
      241 ciqrgvspsq aqglgsnlvt evrvynwfan rrkeeafrhk lamdtysgpp pgpgpgpalp
      301 ahsspglppp alspskvhgv rygqpatset aevpsssggp lvtvstplhq vsptglepsh
      361 sllsteaklv saaggplppv stltalhsle qtspglnqqp qnlimaslpg vmtigpgepa
      421 slgptftntg astlviglas tqaqsvpvin smgsslttlq pvqfsqplhp syqqplmppv
      481 qshvtqspfm atmaqlqsph alyshkpeva qythtgllpq tmlitdttnl salasltptk
      541 qvftsdteas sesglhtpas qattlhvpsq dpasiqhlqp ahrlsasptv sssslvlyqs
      601 sdssngqshl lpsnhsviet fistqmasss q
//
LOCUS       NP_001278762             535 aa            linear   PRI 24-APR-2022
DEFINITION  mucin-20 isoform c precursor [Homo sapiens].
ACCESSION   NP_001278762
VERSION     NP_001278762.1
DBSOURCE    REFSEQ: accession NM_001291833.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 535)
  AUTHORS   Fu L, Yonemura A, Yasuda-Yoshihara N, Umemoto T, Zhang J, Yasuda T,
            Uchihara T, Akiyama T, Kitamura F, Yamashita K, Okamoto Y, Bu L,
            Wei F, Hu X, Liu Y, Ajani JA, Tan P, Baba H and Ishimoto T.
  TITLE     Intracellular MUC20 variant 2 maintains mitochondrial calcium
            homeostasis and enhances drug resistance in gastric cancer
  JOURNAL   Gastric Cancer 25 (3), 542-557 (2022)
   PUBMED   35166958
  REMARK    GeneRIF: Intracellular MUC20 variant 2 maintains mitochondrial
            calcium homeostasis and enhances drug resistance in gastric cancer.
REFERENCE   2  (residues 1 to 535)
  AUTHORS   Wang F, Panjwani N, Wang C, Sun L and Strug LJ.
  TITLE     A flexible summary statistics-based colocalization method with
            application to the mucin cystic fibrosis lung disease modifier
            locus
  JOURNAL   Am J Hum Genet 109 (2), 253-269 (2022)
   PUBMED   35065708
  REMARK    GeneRIF: A flexible summary statistics-based colocalization method
            with application to the mucin cystic fibrosis lung disease modifier
            locus.
REFERENCE   3  (residues 1 to 535)
  AUTHORS   Wang X, Shirazi F, Yan W, Liu X, Wang H, Orlowski RZ and Wang H.
  TITLE     Mucin 20 modulates proteasome capacity through c-Met signalling to
            increase carfilzomib sensitivity in mantle cell lymphoma
  JOURNAL   J Cell Mol Med 25 (21), 10164-10174 (2021)
   PUBMED   34651428
  REMARK    GeneRIF: Mucin 20 modulates proteasome capacity through c-Met
            signalling to increase carfilzomib sensitivity in mantle cell
            lymphoma.
REFERENCE   4  (residues 1 to 535)
  AUTHORS   Sasahira T, Kurihara-Shimomura M, Shimomura H, Bosserhoff AK and
            Kirita T.
  TITLE     Identification of oral squamous cell carcinoma markers MUC2 and
            SPRR1B downstream of TANGO
  JOURNAL   J Cancer Res Clin Oncol 147 (6), 1659-1672 (2021)
   PUBMED   33620575
  REMARK    GeneRIF: Identification of oral squamous cell carcinoma markers
            MUC2 and SPRR1B downstream of TANGO.
REFERENCE   5  (residues 1 to 535)
  AUTHORS   Dai R, Zhou Y, Chen Z, Zou Z, Pan Z, Liu P and Gao X.
  TITLE     Lnc-MUC20-9 binds to ROCK1 and functions as a tumor suppressor in
            bladder cancer
  JOURNAL   J Cell Biochem 121 (10), 4214-4225 (2020)
   PUBMED   31898364
  REMARK    GeneRIF: Lnc-MUC20-9 binds to ROCK1 and functions as a tumor
            suppressor in bladder cancer.
REFERENCE   6  (residues 1 to 535)
  AUTHORS   Samuels TL, Handler E, Syring ML, Pajewski NM, Blumin JH, Kerschner
            JE and Johnston N.
  TITLE     Mucin gene expression in human laryngeal epithelia: effect of
            laryngopharyngeal reflux
  JOURNAL   Ann Otol Rhinol Laryngol 117 (9), 688-695 (2008)
   PUBMED   18834073
  REMARK    GeneRIF: Reflux laryngitis is associated with down-regulation of
            mucin gene expression.
REFERENCE   7  (residues 1 to 535)
  AUTHORS   Moehle C, Ackermann N, Langmann T, Aslanidis C, Kel A,
            Kel-Margoulis O, Schmitz-Madry A, Zahn A, Stremmel W and Schmitz G.
  TITLE     Aberrant intestinal expression and allelic variants of mucin genes
            associated with inflammatory bowel disease
  JOURNAL   J Mol Med (Berl) 84 (12), 1055-1066 (2006)
   PUBMED   17058067
REFERENCE   8  (residues 1 to 535)
  AUTHORS   Li G, Zhang H, Lv J, Hou P and Wang H.
  TITLE     Tandem repeats polymorphism of MUC20 is an independent factor for
            the progression of immunoglobulin A nephropathy
  JOURNAL   Am J Nephrol 26 (1), 43-49 (2006)
   PUBMED   16508246
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 535)
  AUTHORS   Higuchi T, Orita T, Katsuya K, Yamasaki Y, Akiyama K, Li H,
            Yamamoto T, Saito Y and Nakamura M.
  TITLE     MUC20 suppresses the hepatocyte growth factor-induced Grb2-Ras
            pathway by binding to a multifunctional docking site of met
  JOURNAL   Mol Cell Biol 24 (17), 7456-7468 (2004)
   PUBMED   15314156
  REMARK    GeneRIF: Results suggest that MUC20 is a novel regulator of the Met
            signaling cascade which has a role in suppression of the Grb2-Ras
            pathway.
REFERENCE   10 (residues 1 to 535)
  AUTHORS   Higuchi T, Orita T, Nakanishi S, Katsuya K, Watanabe H, Yamasaki Y,
            Waga I, Nanayama T, Yamamoto Y, Munger W, Sun HW, Falk RJ, Jennette
            JC, Alcorta DA, Li H, Yamamoto T, Saito Y and Nakamura M.
  TITLE     Molecular cloning, genomic structure, and expression analysis of
            MUC20, a novel mucin protein, up-regulated in injured kidney
  JOURNAL   J Biol Chem 279 (3), 1968-1979 (2004)
   PUBMED   14565953
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC348309.1, AC237041.3 and
            AB098731.1.
            
            Summary: This gene encodes a member of the mucin protein family.
            Mucins are high molecular weight glycoproteins secreted by many
            epithelial tissues to form an insoluble mucous barrier. The
            C-terminus of this family member associates with the
            multifunctional docking site of the MET proto-oncogene and
            suppresses activation of some downstream MET signaling cascades.
            The protein features a mucin tandem repeat domain that varies
            between two and six copies in most individuals. Multiple variants
            encoding different isoforms have been found for this gene. A
            related pseudogene, which is also located on chromosome 3, has been
            identified. [provided by RefSeq, Apr 2014].
            
            Transcript Variant: This variant (3) lacks a codon in the 5' coding
            region and nine mucin tandem repeat sequences in the central coding
            region, and also has additional polymorphisms in the coding region
            and UTRs, compared to variant 1. The encoded isoform (c) is shorter
            than isoform a. This variant includes three mucin tandem repeats
            and is represented on the ALT_REF_LOCI_6 alternate haplotype of the
            reference genome.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1968189, SAMEA1968540
                              [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..535
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q29"
     Protein         1..535
                     /product="mucin-20 isoform c precursor"
                     /note="transmembrane mucin MUC20S"
                     /calculated_mol_wt=52566
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2286
     Region          <277..438
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..535
                     /gene="MUC20"
                     /gene_synonym="MUC-20"
                     /coded_by="NM_001291833.1:124..1731"
                     /note="isoform c precursor is encoded by transcript
                     variant 3"
                     /db_xref="GeneID:200958"
                     /db_xref="HGNC:HGNC:23282"
                     /db_xref="MIM:610360"
ORIGIN      
        1 mgclwglalp lffcwevgvs gssagpstrr adtamttddt evpamtlapg haaletqtls
       61 aetssrastp agpipeaetr gakrispare trsftktspn fmvliatsve tsaasgspeg
      121 agmttvqtit gsdpeeaifd tlctddisee aktltmdilt lahtsteakg lssessassd
      181 gphpvitpsr asessassdg phpvitpsra sessassdgp hpvitpswsp gsdvtllaea
      241 lvtvtnievi ncsitettts sipgasdidl iptegvkass tsdppalpds teakphitev
      301 tasaetlsta gttesaapha tvgtplptns aterevtapg attlsgalvt vsrnpleets
      361 alsvetpsyv kvsgaapvsi eagsavgktt sfagssassy spseaalknf tpsetptmdi
      421 atkgpfptsr dplpsvpptt tnssrgtnst lakittsakt tmkpptatpt tartrpttdv
      481 sagenggfll lwlsvasped ltdprvaerl mqqlhrelha haphfqvsll rvrrg
//
LOCUS       NP_878902                475 aa            linear   PRI 14-DEC-2022
DEFINITION  cyclic AMP-responsive element-binding protein 5 isoform gamma [Homo
            sapiens].
ACCESSION   NP_878902
VERSION     NP_878902.2
DBSOURCE    REFSEQ: accession NM_182899.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 475)
  AUTHORS   Chi Y, Gong Z, Xin H, Wang Z and Liu Z.
  TITLE     microRNA-206 prevents hepatocellular carcinoma growth and
            metastasis via down-regulating CREB5 and inhibiting the PI3K/AKT
            signaling pathway
  JOURNAL   Cell Cycle 21 (24), 2651-2663 (2022)
   PUBMED   36003063
  REMARK    GeneRIF: microRNA-206 prevents hepatocellular carcinoma growth and
            metastasis via down-regulating CREB5 and inhibiting the PI3K/AKT
            signaling pathway.
REFERENCE   2  (residues 1 to 475)
  AUTHORS   Li J, Yang J, Yu Q, Chen L, Shi X, Su J and Zhu K.
  TITLE     The DNAm levels of CREB5 (cg11301281) were associated with
            clopidogrel resistance
  JOURNAL   J Clin Lab Anal 36 (10), e24690 (2022)
   PUBMED   36087301
  REMARK    GeneRIF: The DNAm levels of CREB5 (cg11301281) were associated with
            clopidogrel resistance.
REFERENCE   3  (residues 1 to 475)
  AUTHORS   Hwang JH, Arafeh R, Seo JH, Baca SC, Ludwig M, Arnoff TE, Sawyer L,
            Richter C, Tape S, Bergom HE, McSweeney S, Rennhack JP, Klingenberg
            SA, Cheung ATM, Kwon J, So J, Kregel S, Van Allen EM, Drake JM,
            Freedman ML and Hahn WC.
  TITLE     CREB5 reprograms FOXA1 nuclear interactions to promote resistance
            to androgen receptor-targeting therapies
  JOURNAL   Elife 11, e73223 (2022)
   PUBMED   35550030
  REMARK    GeneRIF: CREB5 reprograms FOXA1 nuclear interactions to promote
            resistance to androgen receptor-targeting therapies.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 475)
  AUTHORS   Li Q, Chen W, Wang C, Liu Z, Gu Y, Xu X, Xu J, Jiang T, Xu M, Wang
            Y, Chen C, Zhong Y, Zhang Y, Yao L, Jin G, Hu Z and Zhou P.
  TITLE     Whole-exome sequencing reveals common and rare variants in
            immunologic and neurological genes implicated in achalasia
  JOURNAL   Am J Hum Genet 108 (8), 1478-1487 (2021)
   PUBMED   34197731
  REMARK    GeneRIF: Whole-exome sequencing reveals common and rare variants in
            immunologic and neurological genes implicated in achalasia.
REFERENCE   5  (residues 1 to 475)
  AUTHORS   Yanik EL, Keener JD, Lin SJ, Colditz GA, Wright RW, Evanoff BA,
            Jain NB and Saccone NL.
  TITLE     Identification of a Novel Genetic Marker for Risk of Degenerative
            Rotator Cuff Disease Surgery in the UK Biobank
  JOURNAL   J Bone Joint Surg Am 103 (14), 1259-1267 (2021)
   PUBMED   33979311
  REMARK    GeneRIF: Identification of a Novel Genetic Marker for Risk of
            Degenerative Rotator Cuff Disease Surgery in the UK Biobank.
REFERENCE   6  (residues 1 to 475)
  AUTHORS   Qi L and Ding Y.
  TITLE     Involvement of the CREB5 regulatory network in colorectal cancer
            metastasis
  JOURNAL   Yi Chuan 36 (7), 679-684 (2014)
   PUBMED   25076032
  REMARK    GeneRIF: CREB5 accelerate the metastasis of colorectal cancer by
            regulating these five key genes.
REFERENCE   7  (residues 1 to 475)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   8  (residues 1 to 475)
  AUTHORS   Leparc GG and Mitra RD.
  TITLE     Non-EST-based prediction of novel alternatively spliced cassette
            exons with cell signaling function in Caenorhabditis elegans and
            human
  JOURNAL   Nucleic Acids Res 35 (10), 3192-3202 (2007)
   PUBMED   17452356
REFERENCE   9  (residues 1 to 475)
  AUTHORS   Zu YL, Maekawa T, Nomura N, Nakata T and Ishii S.
  TITLE     Regulation of trans-activating capacity of CRE-BPa by phorbol ester
            tumor promoter TPA
  JOURNAL   Oncogene 8 (10), 2749-2758 (1993)
   PUBMED   8378084
REFERENCE   10 (residues 1 to 475)
  AUTHORS   Nomura N, Zu YL, Maekawa T, Tabata S, Akiyama T and Ishii S.
  TITLE     Isolation and characterization of a novel member of the gene family
            encoding the cAMP response element-binding protein CRE-BP1
  JOURNAL   J Biol Chem 268 (6), 4259-4266 (1993)
   PUBMED   8440710
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L05913.1, AC006367.3,
            AB451409.1, AC005013.3 and BQ130001.1.
            On Feb 18, 2005 this sequence version replaced NP_878902.1.
            
            Summary: The product of this gene belongs to the CRE (cAMP response
            element)-binding protein family. Members of this family contain
            zinc-finger and bZIP DNA-binding domains. The encoded protein
            specifically binds to CRE as a homodimer or a heterodimer with
            c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) lacks two 5' exons and uses an
            alternate 5' terminal exon which results in the use of a downstream
            in-frame start codon, compared to variant 1. It encodes isoform
            gamma which has a shorter N-terminus compared to isoform alpha.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: L05913.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..475
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.1-p14.3"
     Protein         1..475
                     /product="cyclic AMP-responsive element-binding protein 5
                     isoform gamma"
                     /note="cAMP response element-binding protein CRE-BPa;
                     cyclic AMP-responsive element-binding protein 5;
                     cAMP-response element-binding protein A"
                     /calculated_mol_wt=52932
     Region          344..403
                     /region_name="bZIP_ATF2"
                     /note="Basic leucine zipper (bZIP) domain of Activating
                     Transcription Factor-2 (ATF-2) and similar proteins: a
                     DNA-binding and dimerization domain; cd14687"
                     /db_xref="CDD:269835"
     Region          344..403
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:269835"
     Site            order(345,349,351..353,356,358..360,362..364)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:269835"
     Site            order(363,370..371,373..374,377..378,381,384..385,388,
                     391..392,394..395,398..399,402..403)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:269835"
     CDS             1..475
                     /gene="CREB5"
                     /gene_synonym="CRE-BPA; CREB-5; CREBPA"
                     /coded_by="NM_182899.5:146..1573"
                     /note="isoform gamma is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS43562.1"
                     /db_xref="GeneID:9586"
                     /db_xref="HGNC:HGNC:16844"
                     /db_xref="MIM:618262"
ORIGIN      
        1 mihrhkhemt lkfpsiktdn mlsdqtptpt rflknceevg lfseldcsle hefrkaqeee
       61 sskrnismhn avggamtgpg thqlssarlp nhdtnvviqq ampspqsssv itqapstnrq
      121 igpvpgslss llhlhnrqrq pmpasmpgtl pnptmpgssa vlmpmerqms vnssimgmqg
      181 pnlsnpcasp qvqpmhseak mrlkaalthh paamsngnmn tmghmmemmg srqdqtphhh
      241 mhshphqhqt lpphhpyphq hqhpahhphp qphhqqnhph hhshshlhah pahhqtsphp
      301 plhtgnqaqv spatqqmqpt qtiqppqptg grrrrvvded pderrrkfle rnraaatrcr
      361 qkrkvwvmsl ekkaeeltqt nmqlqnevsm lknevaqlkq lllthkdcpi tamqkesqgy
      421 lspessppas pvpacsqqqv iqhntittss svsevvgsst lsqltthrtd lnpil
//
LOCUS       NP_736609                593 aa            linear   PRI 17-DEC-2022
DEFINITION  piggyBac transposable element-derived protein 3 [Homo sapiens].
ACCESSION   NP_736609
VERSION     NP_736609.2
DBSOURCE    REFSEQ: accession NM_170753.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 593)
  AUTHORS   Weiner AM and Gray LT.
  TITLE     What role (if any) does the highly conserved CSB-PGBD3 fusion
            protein play in Cockayne syndrome?
  JOURNAL   Mech Ageing Dev 134 (5-6), 225-233 (2013)
   PUBMED   23369858
  REMARK    Review article
REFERENCE   2  (residues 1 to 593)
  AUTHORS   Gray LT, Fong KK, Pavelitz T and Weiner AM.
  TITLE     Tethering of the conserved piggyBac transposase fusion protein
            CSB-PGBD3 to chromosomal AP-1 proteins regulates expression of
            nearby genes in humans
  JOURNAL   PLoS Genet 8 (9), e1002972 (2012)
   PUBMED   23028371
REFERENCE   3  (residues 1 to 593)
  AUTHORS   Bailey AD, Gray LT, Pavelitz T, Newman JC, Horibata K, Tanaka K and
            Weiner AM.
  TITLE     The conserved Cockayne syndrome B-piggyBac fusion protein
            (CSB-PGBD3) affects DNA repair and induces both interferon-like and
            innate antiviral responses in CSB-null cells
  JOURNAL   DNA Repair (Amst) 11 (5), 488-501 (2012)
   PUBMED   22483866
  REMARK    GeneRIF: CSB-PGBD3 fusion protein is important in both health and
            disease, and could play a role in Cockayne syndrome.
REFERENCE   4  (residues 1 to 593)
  AUTHORS   Horibata K, Saijo M, Bay MN, Lan L, Kuraoka I, Brooks PJ, Honma M,
            Nohmi T, Yasui A and Tanaka K.
  TITLE     Mutant Cockayne syndrome group B protein inhibits repair of DNA
            topoisomerase I-DNA covalent complex
  JOURNAL   Genes Cells 16 (1), 101-114 (2011)
   PUBMED   21143350
REFERENCE   5  (residues 1 to 593)
  AUTHORS   Newman JC, Bailey AD, Fan HY, Pavelitz T and Weiner AM.
  TITLE     An abundant evolutionarily conserved CSB-PiggyBac fusion protein
            expressed in Cockayne syndrome
  JOURNAL   PLoS Genet 4 (3), e1000031 (2008)
   PUBMED   18369450
  REMARK    GeneRIF: a domesticated PiggyBac-like transposon PGBD3, residing
            within intron 5 of the CSB gene, functions as an alternative 3'
            terminal exon
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 593)
  AUTHORS   Sarkar A, Sim C, Hong YS, Hogan JR, Fraser MJ, Robertson HM and
            Collins FH.
  TITLE     Molecular evolutionary analysis of the widespread piggyBac
            transposon family and related 'domesticated' sequences
  JOURNAL   Mol Genet Genomics 270 (2), 173-180 (2003)
   PUBMED   12955498
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Hugh Robertson. The reference sequence was
            derived from BC063690.1 and AL138760.14.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 20, 2010 this sequence version replaced NP_736609.1.
            
            Summary: This gene is a member of a small family of genes derived
            from piggyBac transposable elements. The encoded protein contains a
            zinc-ribbon domain characteristic of transposon-derived proteins
            and may function as a regulator of transcription. Alternative
            splicing occurs between a splice site from exon 5 of the adjacent
            upstream gene 'excision repair cross-complementation group 6'
            (ERCC6, GeneID: 2074) and the 3' splice site upstream of the open
            reading frame (ORF) of this gene, which activates the alternative
            polyadenylation site downstream of the piggyback-derived-3 ORF. The
            resulting transcripts encode a fusion protein that shares sequence
            with the product of each individual gene. Pseudogenes for this gene
            are defined on chromosomes 4, 5 and 12. [provided by RefSeq, Mar
            2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC063690.1, SRR1660809.197215.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..593
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.23"
     Protein         1..593
                     /product="piggyBac transposable element-derived protein 3"
                     /calculated_mol_wt=67464
     Region          27..53
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N328.3)"
     Region          69..105
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N328.3)"
     Site            86
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N328.3)"
     Region          141..499
                     /region_name="DDE_Tnp_1_7"
                     /note="Transposase IS4; pfam13843"
                     /db_xref="CDD:433521"
     CDS             1..593
                     /gene="PGBD3"
                     /coded_by="NM_170753.3:257..2038"
                     /db_xref="GeneID:267004"
                     /db_xref="HGNC:HGNC:19400"
ORIGIN      
        1 mprtlslhei tdlletddsi easaiviqpp enatapvsde esgdeeggti nnlpgsllht
       61 aayliqdgsd aesdsddpsy apkddspdev pstftvqqpp psrrrkmtki lckwkkadlt
      121 vqpvagrvta ppndfftvmr tpteilelfl ddevielivk ysnlyacskg vhlgltssef
      181 kcflgiifls gyvsvprrrm fweqrtdvhn vlvsaamrrd rfetifsnlh vadnanldpv
      241 dkfsklrpli sklnercmkf vpnetyfsfd efmvpyfgrh gckqfirgkp irfgykfwcg
      301 atclgyicwf qpyqgknpnt kheeygvgas lvlqfsealt eahpgqyhfv fnnfftsial
      361 ldklssmghq atgtvrkdhi drvplesdva lkkkergtfd yridgkgniv crwndnsvvt
      421 vassgagihp lclvsrysqk lkkkiqvqqp nmikvynqfm ggvdradeni dkyrasirgk
      481 kwysspllfc felvlqnawq lhktydekpv dflefrrrvv chylethghp pepgqkgrpq
      541 krnidsrydg inhvivkqgk qtrcaechkn ttfrcekcdv alhvkcsvey hte
//
LOCUS       NP_853652                175 aa            linear   PRI 17-DEC-2022
DEFINITION  keratin-associated protein 13-2 [Homo sapiens].
ACCESSION   NP_853652
VERSION     NP_853652.1
DBSOURCE    REFSEQ: accession NM_181621.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 175)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 175)
  AUTHORS   Rogers MA, Langbein L, Winter H, Ehmann C, Praetzel S and Schweizer
            J.
  TITLE     Characterization of a first domain of human high glycine-tyrosine
            and high sulfur keratin-associated protein (KAP) genes on
            chromosome 21q22.1
  JOURNAL   J Biol Chem 277 (50), 48993-49002 (2002)
   PUBMED   12359730
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000885.1, BX104478.1 and W72002.1.
            
            ##Evidence-Data-START##
            Transcript is intronless :: AB096938.1, BX104478.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000399889.4/
                                                  ENSP00000382777.2
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..175
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     Protein         1..175
                     /product="keratin-associated protein 13-2"
                     /calculated_mol_wt=18596
     Region          1..170
                     /region_name="PMG"
                     /note="PMG protein; pfam05287"
                     /db_xref="CDD:283053"
     Region          46..101
                     /region_name="5 X 10 AA approximate repeats"
                     /note="propagated from UniProtKB/Swiss-Prot (Q52LG2.1)"
     CDS             1..175
                     /gene="KRTAP13-2"
                     /gene_synonym="KAP13-2"
                     /coded_by="NM_181621.4:59..586"
                     /db_xref="CCDS:CCDS13589.1"
                     /db_xref="GeneID:337959"
                     /db_xref="HGNC:HGNC:18923"
ORIGIN      
        1 msynccsgnf ssrscgdylr ypassrgfsy psnlvystdl cspstcqlgs slyrgcqeic
       61 weptscqtsy vesspcqtsc yrprtsllcs pckttysgsl gfgssscrsl gygsrscysv
      121 gcgssgvrsl gygscgfpsl gygsgfcrpt ylasrscqsp cyrpaygstf crstc
//
LOCUS       NP_001030324             266 aa            linear   PRI 17-DEC-2022
DEFINITION  ubiquitin recognition factor in ER-associated degradation protein 1
            isoform B [Homo sapiens].
ACCESSION   NP_001030324
VERSION     NP_001030324.2
DBSOURCE    REFSEQ: accession NM_001035247.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 266)
  AUTHORS   Nguyen TQ, My Le LT, Kim DH, Ko KS, Lee HT, Kim Nguyen YT, Kim HS,
            Han BW, Kang W and Yang JK.
  TITLE     Structural basis for the interaction between human Npl4 and
            Npl4-binding motif of human Ufd1
  JOURNAL   Structure 30 (11), 1530-1537 (2022)
   PUBMED   36087575
  REMARK    GeneRIF: Structural basis for the interaction between human Npl4
            and Npl4-binding motif of human Ufd1.
REFERENCE   2  (residues 1 to 266)
  AUTHORS   Fujisawa R, Polo Rivera C and Labib KPM.
  TITLE     Multiple UBX proteins reduce the ubiquitin threshold of the
            mammalian p97-UFD1-NPL4 unfoldase
  JOURNAL   Elife 11, e76763 (2022)
   PUBMED   35920641
  REMARK    GeneRIF: Multiple UBX proteins reduce the ubiquitin threshold of
            the mammalian p97-UFD1-NPL4 unfoldase.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 266)
  AUTHORS   Pan M, Zheng Q, Yu Y, Ai H, Xie Y, Zeng X, Wang C, Liu L and Zhao
            M.
  TITLE     Seesaw conformations of Npl4 in the human p97 complex and the
            inhibitory mechanism of a disulfiram derivative
  JOURNAL   Nat Commun 12 (1), 121 (2021)
   PUBMED   33402676
  REMARK    GeneRIF: Seesaw conformations of Npl4 in the human p97 complex and
            the inhibitory mechanism of a disulfiram derivative.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 266)
  AUTHORS   Wang X, Guo Q, Wang H, Yuan X, Wang B, Lobie PE, Zhu T, Tan S and
            Wu Z.
  TITLE     PCBP2 Posttranscriptional Modifications Induce Breast Cancer
            Progression via Upregulation of UFD1 and NT5E
  JOURNAL   Mol Cancer Res 19 (1), 86-98 (2021)
   PUBMED   33037085
  REMARK    GeneRIF: PCBP2 Posttranscriptional Modifications Induce Breast
            Cancer Progression via Upregulation of UFD1 and NT5E.
REFERENCE   5  (residues 1 to 266)
  AUTHORS   Amati F, Condo I, Conti E, Sangiuolo F, Dallapiccola B, Testi R and
            Novelli G.
  TITLE     Analysis of intracellular distribution and apoptosis involvement of
            the Ufd1l gene product by over-expression studies
  JOURNAL   Cell Biochem Funct 21 (3), 263-267 (2003)
   PUBMED   12910480
  REMARK    GeneRIF: Ufd1l is localized around the nucleus and it does not
            interfere with Fas-and ceramide-mediated apoptosis.
REFERENCE   6  (residues 1 to 266)
  AUTHORS   Amati F, Conti E, Botta A, Amicucci P, Dallapiccola B and Novelli
            G.
  TITLE     Functional characterization of the 5' flanking region of human
            ubiquitin fusion degradation 1 like gene (UFD1L)
  JOURNAL   Cell Biochem Funct 20 (2), 163-170 (2002)
   PUBMED   11979512
  REMARK    GeneRIF: a functional analysis of its 5' regulatory region
REFERENCE   7  (residues 1 to 266)
  AUTHORS   Botta A, Tandoi C, Fini G, Calabrese G, Dallapiccola B and Novelli
            G.
  TITLE     Cloning and characterization of the gene encoding human NPL4, a
            protein interacting with the ubiquitin fusion-degradation protein
            (UFD1L)
  JOURNAL   Gene 275 (1), 39-46 (2001)
   PUBMED   11574150
REFERENCE   8  (residues 1 to 266)
  AUTHORS   Yamagishi H, Garg V, Matsuoka R, Thomas T and Srivastava D.
  TITLE     A molecular pathway revealing a genetic basis for human cardiac and
            craniofacial defects
  JOURNAL   Science 283 (5405), 1158-1161 (1999)
   PUBMED   10024240
REFERENCE   9  (residues 1 to 266)
  AUTHORS   Novelli G, Mari A, Amati F, Colosimo A, Sangiuolo F, Bengala M,
            Conti E, Ratti A, Bordoni R, Pizzuti A, Baldini A, Crinelli R,
            Pandolfi F, Magnani M and Dallapiccola B.
  TITLE     Structure and expression of the human ubiquitin fusion-degradation
            gene (UFD1L)
  JOURNAL   Biochim Biophys Acta 1396 (2), 158-162 (1998)
   PUBMED   9540831
REFERENCE   10 (residues 1 to 266)
  AUTHORS   Pizzuti A, Novelli G, Ratti A, Amati F, Mari A, Calabrese G,
            Nicolis S, Silani V, Marino B, Scarlato G, Ottolenghi S and
            Dallapiccola B.
  TITLE     UFD1L, a developmentally expressed ubiquitination gene, is deleted
            in CATCH 22 syndrome
  JOURNAL   Hum Mol Genet 6 (2), 259-265 (1997)
   PUBMED   9063746
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB128364.1, DB496066.1,
            AK225877.1, AW131352.1, DB570679.1 and AC000068.2.
            On Jun 25, 2009 this sequence version replaced NP_001030324.1.
            
            Summary: The protein encoded by this gene forms a complex with two
            other proteins, nuclear protein localization-4 and
            valosin-containing protein, and this complex is necessary for the
            degradation of ubiquitinated proteins. In addition, this complex
            controls the disassembly of the mitotic spindle and the formation
            of a closed nuclear envelope after mitosis. Mutations in this gene
            have been associated with Catch 22 syndrome as well as cardiac and
            craniofacial defects. Alternative splicing results in multiple
            transcript variants encoding different isoforms. A related
            pseudogene has been identified on chromosome 18. [provided by
            RefSeq, Jun 2009].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' coding region that results in a frameshift, compared to
            variant 1. The encoded isoform (B) has a distinct C-terminus and is
            shorter than isoform A.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.123528.1, AK225877.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..266
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     Protein         1..266
                     /product="ubiquitin recognition factor in ER-associated
                     degradation protein 1 isoform B"
                     /note="UB fusion protein 1; ubiquitin fusion degradation
                     protein 1 homolog; ubiquitin fusion degradation 1 like;
                     ubiquitin recognition factor in ER-associated degradation
                     protein 1"
                     /calculated_mol_wt=29770
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q92890.3)"
     Region          19..192
                     /region_name="UFD1"
                     /note="Ubiquitin fusion degradation protein UFD1;
                     pfam03152"
                     /db_xref="CDD:427169"
     Site            129
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92890.3)"
     Region          231..258
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92890.3)"
     Site            231
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92890.3)"
     Site            245
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92890.3)"
     Site            247
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92890.3)"
     CDS             1..266
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /coded_by="NM_001035247.3:109..909"
                     /note="isoform B is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS33600.2"
                     /db_xref="GeneID:7353"
                     /db_xref="HGNC:HGNC:12520"
                     /db_xref="MIM:601754"
ORIGIN      
        1 mfsfnmfdhp iprvfqnrfs tqyrcfsvsm lagpndrsdv ekggkiimpp saldqlsrln
       61 itypmlfklt nknsdrmthc gvlefvadeg icylphwmmq nllleegglv qvesvnlqva
      121 tyskfqpqsp dflditnpka vlenalrnfa clttgdviai nynekiyelr vmetkpdkav
      181 siiecdmnvd fdaplgykep erqvqheest egeadhsgya gelgfrafsg sgnrldgkkk
      241 gvepspspik pgdikrgipn yefklg
//
LOCUS       NP_001193620             744 aa            linear   PRI 17-DEC-2022
DEFINITION  transcription factor RFX4 isoform d [Homo sapiens].
ACCESSION   NP_001193620
VERSION     NP_001193620.1
DBSOURCE    REFSEQ: accession NM_001206691.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 744)
  AUTHORS   Jeong HY, Kim HJ, Kim CE, Lee S, Choi MC and Kim SH.
  TITLE     High expression of RFX4 is associated with tumor progression and
            poor prognosis in patients with glioblastoma
  JOURNAL   Int J Neurosci 131 (1), 7-14 (2021)
   PUBMED   32075484
  REMARK    GeneRIF: High expression of RFX4 is associated with tumor
            progression and poor prognosis in patients with glioblastoma.
REFERENCE   2  (residues 1 to 744)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   3  (residues 1 to 744)
  AUTHORS   Cobb J, Cule E, Moncrieffe H, Hinks A, Ursu S, Patrick F,
            Kassoumeri L, Flynn E, Bulatovic M, Wulffraat N, van Zelst B, de
            Jonge R, Bohm M, Dolezalova P, Hirani S, Newman S, Whitworth P,
            Southwood TR, De Iorio M, Wedderburn LR and Thomson W.
  CONSRTM   Childhood Arthritis Response to Medication Study (CHARMS);
            Childhood Arthritis Prospective Study (CAPS); BSPAR study group
  TITLE     Genome-wide data reveal novel genes for methotrexate response in a
            large cohort of juvenile idiopathic arthritis cases
  JOURNAL   Pharmacogenomics J 14 (4), 356-364 (2014)
   PUBMED   24709693
REFERENCE   4  (residues 1 to 744)
  AUTHORS   den Hoed M, Eijgelsheim M, Esko T, Brundel BJ, Peal DS, Evans DM,
            Nolte IM, Segre AV, Holm H, Handsaker RE, Westra HJ, Johnson T,
            Isaacs A, Yang J, Lundby A, Zhao JH, Kim YJ, Go MJ, Almgren P,
            Bochud M, Boucher G, Cornelis MC, Gudbjartsson D, Hadley D, van der
            Harst P, Hayward C, den Heijer M, Igl W, Jackson AU, Kutalik Z,
            Luan J, Kemp JP, Kristiansson K, Ladenvall C, Lorentzon M,
            Montasser ME, Njajou OT, O'Reilly PF, Padmanabhan S, St Pourcain B,
            Rankinen T, Salo P, Tanaka T, Timpson NJ, Vitart V, Waite L,
            Wheeler W, Zhang W, Draisma HH, Feitosa MF, Kerr KF, Lind PA,
            Mihailov E, Onland-Moret NC, Song C, Weedon MN, Xie W, Yengo L,
            Absher D, Albert CM, Alonso A, Arking DE, de Bakker PI, Balkau B,
            Barlassina C, Benaglio P, Bis JC, Bouatia-Naji N, Brage S, Chanock
            SJ, Chines PS, Chung M, Darbar D, Dina C, Dorr M, Elliott P, Felix
            SB, Fischer K, Fuchsberger C, de Geus EJ, Goyette P, Gudnason V,
            Harris TB, Hartikainen AL, Havulinna AS, Heckbert SR, Hicks AA,
            Hofman A, Holewijn S, Hoogstra-Berends F, Hottenga JJ, Jensen MK,
            Johansson A, Junttila J, Kaab S, Kanon B, Ketkar S, Khaw KT,
            Knowles JW, Kooner AS, Kors JA, Kumari M, Milani L, Laiho P,
            Lakatta EG, Langenberg C, Leusink M, Liu Y, Luben RN, Lunetta KL,
            Lynch SN, Markus MR, Marques-Vidal P, Mateo Leach I, McArdle WL,
            McCarroll SA, Medland SE, Miller KA, Montgomery GW, Morrison AC,
            Muller-Nurasyid M, Navarro P, Nelis M, O'Connell JR, O'Donnell CJ,
            Ong KK, Newman AB, Peters A, Polasek O, Pouta A, Pramstaller PP,
            Psaty BM, Rao DC, Ring SM, Rossin EJ, Rudan D, Sanna S, Scott RA,
            Sehmi JS, Sharp S, Shin JT, Singleton AB, Smith AV, Soranzo N,
            Spector TD, Stewart C, Stringham HM, Tarasov KV, Uitterlinden AG,
            Vandenput L, Hwang SJ, Whitfield JB, Wijmenga C, Wild SH, Willemsen
            G, Wilson JF, Witteman JC, Wong A, Wong Q, Jamshidi Y, Zitting P,
            Boer JM, Boomsma DI, Borecki IB, van Duijn CM, Ekelund U, Forouhi
            NG, Froguel P, Hingorani A, Ingelsson E, Kivimaki M, Kronmal RA,
            Kuh D, Lind L, Martin NG, Oostra BA, Pedersen NL, Quertermous T,
            Rotter JI, van der Schouw YT, Verschuren WM, Walker M, Albanes D,
            Arnar DO, Assimes TL, Bandinelli S, Boehnke M, de Boer RA, Bouchard
            C, Caulfield WL, Chambers JC, Curhan G, Cusi D, Eriksson J,
            Ferrucci L, van Gilst WH, Glorioso N, de Graaf J, Groop L,
            Gyllensten U, Hsueh WC, Hu FB, Huikuri HV, Hunter DJ, Iribarren C,
            Isomaa B, Jarvelin MR, Jula A, Kahonen M, Kiemeney LA, van der
            Klauw MM, Kooner JS, Kraft P, Iacoviello L, Lehtimaki T, Lokki ML,
            Mitchell BD, Navis G, Nieminen MS, Ohlsson C, Poulter NR, Qi L,
            Raitakari OT, Rimm EB, Rioux JD, Rizzi F, Rudan I, Salomaa V, Sever
            PS, Shields DC, Shuldiner AR, Sinisalo J, Stanton AV, Stolk RP,
            Strachan DP, Tardif JC, Thorsteinsdottir U, Tuomilehto J, van
            Veldhuisen DJ, Virtamo J, Viikari J, Vollenweider P, Waeber G,
            Widen E, Cho YS, Olsen JV, Visscher PM, Willer C, Franke L, Erdmann
            J, Thompson JR, Pfeufer A, Sotoodehnia N, Newton-Cheh C, Ellinor
            PT, Stricker BH, Metspalu A, Perola M, Beckmann JS, Smith GD,
            Stefansson K, Wareham NJ, Munroe PB, Sibon OC, Milan DJ, Snieder H,
            Samani NJ and Loos RJ.
  CONSRTM   Global BPgen Consortium; CARDIoGRAM Consortium; PR GWAS Consortium;
            QRS GWAS Consortium; QT-IGC Consortium; CHARGE-AF Consortium
  TITLE     Identification of heart rate-associated loci and their effects on
            cardiac conduction and rhythm disorders
  JOURNAL   Nat Genet 45 (6), 621-631 (2013)
   PUBMED   23583979
REFERENCE   5  (residues 1 to 744)
  AUTHORS   Zhang D, Zeldin DC and Blackshear PJ.
  TITLE     Regulatory factor X4 variant 3: a transcription factor involved in
            brain development and disease
  JOURNAL   J Neurosci Res 85 (16), 3515-3522 (2007)
   PUBMED   17510980
  REMARK    Review article
REFERENCE   6  (residues 1 to 744)
  AUTHORS   Matsushita H, Uenaka A, Ono T, Hasegawa K, Sato S, Koizumi F,
            Nakagawa K, Toda M, Shingo T, Ichikawa T, Noguchi Y, Tamiya T,
            Furuta T, Kawase T, Date I and Nakayama E.
  TITLE     Identification of glioma-specific RFX4-E and -F isoforms and
            humoral immune response in patients
  JOURNAL   Cancer Sci 96 (11), 801-809 (2005)
   PUBMED   16271074
REFERENCE   7  (residues 1 to 744)
  AUTHORS   Araki R, Takahashi H, Fukumura R, Sun F, Umeda N, Sujino M, Inouye
            ST, Saito T and Abe M.
  TITLE     Restricted expression and photic induction of a novel mouse
            regulatory factor X4 transcript in the suprachiasmatic nucleus
  JOURNAL   J Biol Chem 279 (11), 10237-10242 (2004)
   PUBMED   14701801
REFERENCE   8  (residues 1 to 744)
  AUTHORS   Blackshear PJ, Graves JP, Stumpo DJ, Cobos I, Rubenstein JL and
            Zeldin DC.
  TITLE     Graded phenotypic response to partial and complete deficiency of a
            brain-specific transcript variant of the winged helix transcription
            factor RFX4
  JOURNAL   Development 130 (19), 4539-4552 (2003)
   PUBMED   12925582
REFERENCE   9  (residues 1 to 744)
  AUTHORS   Morotomi-Yano K, Yano K, Saito H, Sun Z, Iwama A and Miki Y.
  TITLE     Human regulatory factor X 4 (RFX4) is a testis-specific dimeric
            DNA-binding protein that cooperates with other human RFX members
  JOURNAL   J Biol Chem 277 (1), 836-842 (2002)
   PUBMED   11682486
REFERENCE   10 (residues 1 to 744)
  AUTHORS   Emery P, Durand B, Mach B and Reith W.
  TITLE     RFX proteins, a novel family of DNA binding proteins conserved in
            the eukaryotic kingdom
  JOURNAL   Nucleic Acids Res 24 (5), 803-807 (1996)
   PUBMED   8600444
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB095365.1, AK074913.1,
            AY102009.1 and AI002078.1.
            
            Summary: This gene is a member of the regulatory factor X gene
            family, which encodes transcription factors that contain a
            highly-conserved winged helix DNA binding domain. The protein
            encoded by this gene is structurally related to regulatory factors
            X1, X2, X3, and X5. It has been shown to interact with itself as
            well as with regulatory factors X2 and X3, but it does not interact
            with regulatory factor X1. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (4, also known as RFX4_v4) uses an
            alternate 5' exon and thus differs in the 5' UTR and 5' coding
            region, compared to variant 3. The encoded isoform (d, also known
            as RFX4-C) has a distinct N-terminus and is longer than isoform c.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB095365.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..744
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.3"
     Protein         1..744
                     /product="transcription factor RFX4 isoform d"
                     /note="winged-helix transcription factor RFX4; testis
                     development protein NYD-SP10; regulatory factor X, 4
                     (influences HLA class II expression)"
                     /calculated_mol_wt=84349
     Region          67..145
                     /region_name="RFX_DNA_binding"
                     /note="RFX DNA-binding domain; pfam02257"
                     /db_xref="CDD:426682"
     CDS             1..744
                     /gene="RFX4"
                     /gene_synonym="NYD-SP10"
                     /coded_by="NM_001206691.2:130..2364"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS55880.1"
                     /db_xref="GeneID:5992"
                     /db_xref="HGNC:HGNC:9985"
                     /db_xref="MIM:603958"
ORIGIN      
        1 mikrrahpga ggdrtrprrr rsteswierc lnesenkrys shtslgnvsn deneekennr
       61 askphstpat lqwleenyei aegvciprsa lymhyldfce kndtqpvnaa sfgkiirqqf
      121 pqlttrrlgt rgqskyhyyg iavkessqyy dvmyskkgaa wvsetgkkev skqtvayspr
      181 sklgtllpef pnvkdlnlpa slpeekvstf immyrthcqr ildtviranf devqsfllhf
      241 wqgmpphmlp vlgsstvvni vgvcdsilyk aisgvlmptv lqalpdsltq virkfakqld
      301 ewlkvalhdl penlrnikfe lsrrfsqilr rqtslnhlcq asrtvihsad itfqmledwr
      361 nvdlnsitkq tlytmedsrd ehrklitqly qefdhlleeq spiesyiewl dtmvdrcvvk
      421 vaakrqgslk kvaqqfllmw scfgtrvird mtlhsapsfg sfhlihlmfd dyvlyllesl
      481 hcqeranelm ramkgegsta evreeiilte aaaptpspvp sfspaksats vevpppsspv
      541 snpspeytgl sttgamqsyt wsltytvtta agspaensqq lpcmrnthvp sssvthripv
      601 yphreehgyt gsynygsygn qhphpmqsqy palphdtais gplhyapyhr ssaqypfnsp
      661 tsrmepclms stprlhptpv tprwpevpsa ntcytspsvh sarygnssdm ytplttrrns
      721 eyehmqhfpg fayingeast gwak
//
LOCUS       NP_004480                327 aa            linear   PRI 18-DEC-2022
DEFINITION  G protein pathway suppressor 2 [Homo sapiens].
ACCESSION   NP_004480 NP_116329
VERSION     NP_004480.1
DBSOURCE    REFSEQ: accession NM_004489.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 327)
  AUTHORS   Si Y, Zhang H, Peng P, Zhu C, Shen J, Xiong Y, Liu X, Xiang Y, Li
            W, Ren Y, Wan F, Zhang L and Liu Y.
  TITLE     G protein pathway suppressor 2 suppresses gastric cancer by
            destabilizing epidermal growth factor receptor
  JOURNAL   Cancer Sci 112 (12), 4867-4882 (2021)
   PUBMED   34609770
  REMARK    GeneRIF: G protein pathway suppressor 2 suppresses gastric cancer
            by destabilizing epidermal growth factor receptor.
REFERENCE   2  (residues 1 to 327)
  AUTHORS   Barilla S, Liang N, Mileti E, Ballaire R, Lhomme M, Ponnaiah M,
            Lemoine S, Soprani A, Gautier JF, Amri EZ, Le Goff W, Venteclef N
            and Treuter E.
  TITLE     Loss of G protein pathway suppressor 2 in human adipocytes triggers
            lipid remodeling by upregulating ATP binding cassette subfamily G
            member 1
  JOURNAL   Mol Metab 42, 101066 (2020)
   PUBMED   32798719
  REMARK    GeneRIF: Loss of G protein pathway suppressor 2 in human adipocytes
            triggers lipid remodeling by upregulating ATP binding cassette
            subfamily G member 1.
REFERENCE   3  (residues 1 to 327)
  AUTHORS   Ma WB, Wang XH, Li CY, Tian HH, Zhang J, Bi JJ, Ren GM, Tao SS, Liu
            X, Zhang W, Li DX, Chen H, Zhan YQ, Yu M, Ge CH, Yang XM and Yin
            RH.
  TITLE     GPS2 promotes erythroid differentiation by control of the stability
            of EKLF protein
  JOURNAL   Blood 135 (25), 2302-2315 (2020)
   PUBMED   32384137
  REMARK    GeneRIF: GPS2 promotes erythroid differentiation by control of the
            stability of EKLF protein.
REFERENCE   4  (residues 1 to 327)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 327)
  AUTHORS   Kennedy SA, Jarboui MA, Srihari S, Raso C, Bryan K, Dernayka L,
            Charitou T, Bernal-Llinares M, Herrera-Montavez C, Krstic A,
            Matallanas D, Kotlyar M, Jurisica I, Curak J, Wong V, Stagljar I,
            LeBihan T, Imrie L, Pillai P, Lynn MA, Fasterius E, Al-Khalili
            Szigyarto C, Breen J, Kiel C, Serrano L, Rauch N, Rukhlenko O,
            Kholodenko BN, Iglesias-Martinez LF, Ryan CJ, Pilkington R,
            Cammareri P, Sansom O, Shave S, Auer M, Horn N, Klose F, Ueffing M,
            Boldt K, Lynn DJ and Kolch W.
  TITLE     Extensive rewiring of the EGFR network in colorectal cancer cells
            expressing transforming levels of KRASG13D
  JOURNAL   Nat Commun 11 (1), 499 (2020)
   PUBMED   31980649
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 327)
  AUTHORS   Degenhardt YY and Silverstein SJ.
  TITLE     Gps2, a protein partner for human papillomavirus E6 proteins
  JOURNAL   J Virol 75 (1), 151-160 (2001)
   PUBMED   11119584
REFERENCE   7  (residues 1 to 327)
  AUTHORS   Peng YC, Breiding DE, Sverdrup F, Richard J and Androphy EJ.
  TITLE     AMF-1/Gps2 binds p300 and enhances its interaction with
            papillomavirus E2 proteins
  JOURNAL   J Virol 74 (13), 5872-5879 (2000)
   PUBMED   10846067
REFERENCE   8  (residues 1 to 327)
  AUTHORS   Breiding DE, Sverdrup F, Grossel MJ, Moscufo N, Boonchai W and
            Androphy EJ.
  TITLE     Functional interaction of a novel cellular protein with the
            papillomavirus E2 transactivation domain
  JOURNAL   Mol Cell Biol 17 (12), 7208-7219 (1997)
   PUBMED   9372953
REFERENCE   9  (residues 1 to 327)
  AUTHORS   Jin DY, Teramoto H, Giam CZ, Chun RF, Gutkind JS and Jeang KT.
  TITLE     A human suppressor of c-Jun N-terminal kinase 1 activation by tumor
            necrosis factor alpha
  JOURNAL   J Biol Chem 272 (41), 25816-25823 (1997)
   PUBMED   9325311
REFERENCE   10 (residues 1 to 327)
  AUTHORS   Spain BH, Bowdish KS, Pacal AR, Staub SF, Koo D, Chang CY, Xie W
            and Colicelli J.
  TITLE     Two human cDNAs, including a homolog of Arabidopsis FUS6 (COP11),
            suppress G-protein- and mitogen-activated protein kinase-mediated
            signal transduction in yeast and mammalian cells
  JOURNAL   Mol Cell Biol 16 (12), 6698-6706 (1996)
   PUBMED   8943324
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026954.14 and BC013652.1.
            On Oct 6, 2004 this sequence version replaced NP_116329.1.
            
            Summary: This gene encodes a protein involved in G
            protein-mitogen-activated protein kinase (MAPK) signaling cascades.
            When overexpressed in mammalian cells, this gene could potently
            suppress a RAS- and MAPK-mediated signal and interfere with JNK
            activity, suggesting that the function of this gene may be signal
            repression. The encoded protein is an integral subunit of the
            NCOR1-HDAC3 (nuclear receptor corepressor 1-histone deacetylase 3)
            complex, and it was shown that the complex inhibits JNK activation
            through this subunit and thus could potentially provide an
            alternative mechanism for hormone-mediated antagonism of AP1
            (activator protein 1) function. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.68963.1,
                                           SRR1803612.98914.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380728.7/ ENSP00000370104.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     Protein         1..327
                     /product="G protein pathway suppressor 2"
                     /note="GPS-2"
                     /calculated_mol_wt=36558
     Region          5..292
                     /region_name="G_path_suppress"
                     /note="G-protein pathway suppressor; pfam15991"
                     /db_xref="CDD:406402"
     Region          26..65
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13227.3)"
     Region          61..94
                     /region_name="interaction with SUMO.
                     /evidence=ECO:0000269|PubMed:20159957"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13227.3)"
     Region          177..208
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13227.3)"
     Region          253..327
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13227.3)"
     Site            312
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q13227.3)"
     Site            323
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0000269|PubMed:19917673,
                     ECO:0007744|PubMed:24129315; Omega-N-methylarginine,
                     alternate. /evidence=ECO:0000269|PubMed:19917673;
                     propagated from UniProtKB/Swiss-Prot (Q13227.3)"
     CDS             1..327
                     /gene="GPS2"
                     /gene_synonym="AMF-1"
                     /coded_by="NM_004489.5:98..1081"
                     /db_xref="CCDS:CCDS11100.1"
                     /db_xref="GeneID:2874"
                     /db_xref="HGNC:HGNC:4550"
                     /db_xref="MIM:601935"
ORIGIN      
        1 mpallerpkl snamaralhr himmererkr qeeeevdkmm eqkmkeeqer rkkkemeerm
       61 sleetkeqil kleekllalq eekhqlflql kkvlheeekr rrkeqsdltt ltsaayqqsl
      121 tvhtgthlls mqgspgghnr pgtlmaadra kqmfgpqvlt trhyvgsaaa fagtpehgqf
      181 qgspggaygt aqppphygpt qpayspsqql rapsafpavq ylsqpqpqpy avhghfqptq
      241 tgflqpggal slqkqmehan qqtgfsdsss lrpmhpqalh papgllaspq lpvqmqpagk
      301 sgfaatsqpg prlpfiqhsq nprfyhk
//
LOCUS       NP_001229414             165 aa            linear   PRI 18-DEC-2022
DEFINITION  probable RNA-binding protein EIF1AD [Homo sapiens].
ACCESSION   NP_001229414
VERSION     NP_001229414.1
DBSOURCE    REFSEQ: accession NM_001242485.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 165)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 165)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 165)
  AUTHORS   Yu J and Marintchev A.
  TITLE     Comparative sequence and structure analysis of eIF1A and eIF1AD
  JOURNAL   BMC Struct Biol 18 (1), 11 (2018)
   PUBMED   30180896
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 165)
  AUTHORS   Navarini AA, Simpson MA, Weale M, Knight J, Carlavan I, Reiniche P,
            Burden DA, Layton A, Bataille V, Allen M, Pleass R, Pink A, Creamer
            D, English J, Munn S, Walton S, Willis C, Deret S, Voegel JJ,
            Spector T, Smith CH, Trembath RC and Barker JN.
  CONSRTM   Acne Genetic Study Group
  TITLE     Genome-wide association study identifies three novel susceptibility
            loci for severe Acne vulgaris
  JOURNAL   Nat Commun 5, 4020 (2014)
   PUBMED   24927181
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 165)
  AUTHORS   Smirnova EV, Rakitina TV, Bogatova OV, Ivanova DL, Vorobyeva EE,
            Lipkin AV, Kostanyan IA and Lipkin VM.
  TITLE     Novel protein haponin regulates cellular response to oxidative
            stress
  JOURNAL   Dokl Biochem Biophys 440, 225-227 (2011)
   PUBMED   22095125
  REMARK    GeneRIF: Novel protein haponin regulates cellular response to
            oxidative stress.
REFERENCE   6  (residues 1 to 165)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   7  (residues 1 to 165)
  AUTHORS   Vonarshenko,A.V., Radchenko,V.V., Gapon,M.V., Rodionov,I.L.,
            Babichenko,I.I., Kakuev,D.L., Artamonov,I.D., Garkovenko,A.V.,
            D'iachkova,L.G., Lipkin,V.M. and Kostanian,I.A.
  TITLE     [Identification and expression of haponin, a new protein from HL-60
            cells]
  JOURNAL   Bioorg Khim 33 (6), 653-656 (2007)
   PUBMED   18173130
REFERENCE   8  (residues 1 to 165)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP328412.1, BC005131.2, BG149615.1 and AP006287.2.
            
            Transcript Variant: This variant (6) uses multiple alternate splice
            sites in the 5' UTR, compared to variant 1, but encodes the same
            protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.130657.1,
                                           SRR1660809.19933.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152719, SAMEA2153031
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..165
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     Protein         1..165
                     /product="probable RNA-binding protein EIF1AD"
                     /note="eukaryotic translation initiation factor 1A
                     domain-containing protein"
                     /calculated_mol_wt=18922
     Region          6..12
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9N8.1)"
     Region          25..102
                     /region_name="S1_eIF1AD_like"
                     /note="eukaryotic translation initiation factor 1A domain
                     containing protein (eIF1AD)-like, S1-like RNA-binding
                     domain. eIF1AD is also known as MGC11102 protein. Little
                     is known about the function of eIF1AD. S1-like RNA-binding
                     domains are found in a wide...; cd05792"
                     /db_xref="CDD:240218"
     Site            order(33..34,38,52..55,58,63)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:240218"
     Site            33
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8N9N8.1)"
     Region          56..65
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9N8.1)"
     Region          112..165
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9N8.1)"
     Site            131
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3THJ3; propagated from
                     UniProtKB/Swiss-Prot (Q8N9N8.1)"
     Site            135
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5RKI6; propagated from
                     UniProtKB/Swiss-Prot (Q8N9N8.1)"
     Site            136
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3THJ3; propagated from
                     UniProtKB/Swiss-Prot (Q8N9N8.1)"
     Site            137
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5RKI6; propagated from
                     UniProtKB/Swiss-Prot (Q8N9N8.1)"
     Site            155
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N9N8.1)"
     Site            159
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N9N8.1)"
     CDS             1..165
                     /gene="EIF1AD"
                     /gene_synonym="haponin; OBELIX"
                     /coded_by="NM_001242485.2:211..708"
                     /db_xref="CCDS:CCDS8124.1"
                     /db_xref="GeneID:84285"
                     /db_xref="HGNC:HGNC:28147"
                     /db_xref="MIM:618473"
ORIGIN      
        1 msqatkrkhv vkevlgehiv psdqqqivrv lrtpgnnlhe vetaqgqrfl vsmpskyrkn
       61 iwikrgdfli vdpieegekv kaeisfvlck dhvrslqkeg fwpeafseva ekhnnrnrqt
      121 qpelpaepql sgeesssedd sdlfvntnrr qyheseeese eeeaa
//
LOCUS       NP_001338393             375 aa            linear   PRI 18-DEC-2022
DEFINITION  ELAV-like protein 2 isoform g [Homo sapiens].
ACCESSION   NP_001338393 XP_011516079
VERSION     NP_001338393.1
DBSOURCE    REFSEQ: accession NM_001351464.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 375)
  AUTHORS   Xie Y, Wu H, Hu W, Zhang H, Li A, Zhang Z, Ren S and Zhang X.
  TITLE     Identification of Hub Genes of Lung Adenocarcinoma Based on
            Weighted Gene Co-Expression Network in Chinese Population
  JOURNAL   Pathol Oncol Res 28, 1610455 (2022)
   PUBMED   36032660
  REMARK    GeneRIF: Identification of Hub Genes of Lung Adenocarcinoma Based
            on Weighted Gene Co-Expression Network in Chinese Population.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 375)
  AUTHORS   Li X, Dong L, Yu H, Zhang Y and Wang S.
  TITLE     Bioinformatic Analysis Identified Hub Genes Associated with
            Heterocyclic Amines Induced Cytotoxicity of Peripheral Blood
            Mononuclear Cells
  JOURNAL   Genes (Basel) 12 (12), 1888 (2021)
   PUBMED   34946837
  REMARK    GeneRIF: Bioinformatic Analysis Identified Hub Genes Associated
            with Heterocyclic Amines Induced Cytotoxicity of Peripheral Blood
            Mononuclear Cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 375)
  AUTHORS   Cheng X, Gu X, Xia T, Ma Z, Yang Z, Feng HL, Zhao Y, Ma W, Ju Z,
            Gorospe M, Yi X, Tang H and Wang W.
  TITLE     HuB and HuD repress telomerase activity by dissociating HuR from
            TERC
  JOURNAL   Nucleic Acids Res 49 (5), 2848-2858 (2021)
   PUBMED   33589924
  REMARK    GeneRIF: HuB and HuD repress telomerase activity by dissociating
            HuR from TERC.
REFERENCE   4  (residues 1 to 375)
  AUTHORS   Prasad K, Khatoon F, Rashid S, Ali N, AlAsmari AF, Ahmed MZ,
            Alqahtani AS, Alqahtani MS and Kumar V.
  TITLE     Targeting hub genes and pathways of innate immune response in
            COVID-19: A network biology perspective
  JOURNAL   Int J Biol Macromol 163, 1-8 (2020)
   PUBMED   32599245
  REMARK    GeneRIF: Targeting hub genes and pathways of innate immune response
            in COVID-19: A network biology perspective.
REFERENCE   5  (residues 1 to 375)
  AUTHORS   Hatanaka T, Higashino F, Tei K and Yasuda M.
  TITLE     The neural ELAVL protein HuB enhances endogenous proto-oncogene
            activation
  JOURNAL   Biochem Biophys Res Commun 517 (2), 330-337 (2019)
   PUBMED   31358321
  REMARK    GeneRIF: HuB plays a major role in the activation of
            proto-oncogenes.
REFERENCE   6  (residues 1 to 375)
  AUTHORS   Han J, Knops JF, Longshore JW and King PH.
  TITLE     Localization of human elav-like neuronal protein 1 (Hel-N1) on
            chromosome 9p21 by chromosome microdissection polymerase chain
            reaction and fluorescence in situ hybridization
  JOURNAL   Genomics 36 (1), 189-191 (1996)
   PUBMED   8812435
REFERENCE   7  (residues 1 to 375)
  AUTHORS   Gao FB and Keene JD.
  TITLE     Hel-N1/Hel-N2 proteins are bound to poly(A)+ mRNA in granular RNP
            structures and are implicated in neuronal differentiation
  JOURNAL   J Cell Sci 109 (Pt 3), 579-589 (1996)
   PUBMED   8907704
REFERENCE   8  (residues 1 to 375)
  AUTHORS   King PH.
  TITLE     Hel-N2: a novel isoform of Hel-N1 which is conserved in rat neural
            tissue and produced in early embryogenesis
  JOURNAL   Gene 151 (1-2), 261-265 (1994)
   PUBMED   7828887
REFERENCE   9  (residues 1 to 375)
  AUTHORS   Gao FB, Carson CC, Levine T and Keene JD.
  TITLE     Selection of a subset of mRNAs from combinatorial 3' untranslated
            region libraries using neuronal RNA-binding protein Hel-N1
  JOURNAL   Proc Natl Acad Sci U S A 91 (23), 11207-11211 (1994)
   PUBMED   7972035
REFERENCE   10 (residues 1 to 375)
  AUTHORS   King PH, Levine TD, Fremeau RT Jr and Keene JD.
  TITLE     Mammalian homologs of Drosophila ELAV localized to a neuronal
            subset can bind in vitro to the 3' UTR of mRNA encoding the Id
            transcriptional repressor
  JOURNAL   J Neurosci 14 (4), 1943-1952 (1994)
   PUBMED   8158249
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161628.9 and AL445623.2.
            On May 12, 2017 this sequence version replaced XP_011516079.1.
            
            Summary: In humans, the ELAV like RNA binding protein gene family
            has four members (ELAVL1-4). ELAVL RNA binding proteins recognize
            AU-rich elements in the 3' UTRs of gene transcripts and thereby
            regulate gene expression post-transcriptionally. The protein
            encoded by this gene binds to several 3' UTRs, including its own
            and also that of FOS, ID, and POU5F1. This gene encodes ELAVL2 and,
            like ELAVL3 and ELAVL4, is expressed specifically in neurons and
            primarily localizes to the cytoplasm. This protein also forms a
            cytosolic complex with the normally nuclear-localized ELAVL1
            protein. Alternative splicing of this gene results in multiple
            transcript variants encoding distinct protein isoforms. [provided
            by RefSeq, Jul 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.165836.1,
                                           SRR1803612.109751.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.3"
     Protein         1..375
                     /product="ELAV-like protein 2 isoform g"
                     /note="ELAV-like protein 2; nervous system-specific
                     RNA-binding protein Hel-N1; hu-antigen B; ELAV (embryonic
                     lethal, abnormal vision, Drosophila)-like 2 (Hu antigen
                     B); ELAV like neuron-specific RNA binding protein 2"
                     /calculated_mol_wt=40926
     Region          65..374
                     /region_name="ELAV_HUD_SF"
                     /note="ELAV/HuD family splicing factor; TIGR01661"
                     /db_xref="CDD:273741"
     CDS             1..375
                     /gene="ELAVL2"
                     /gene_synonym="HEL-N1; HELN1; HUB"
                     /coded_by="NM_001351464.2:455..1582"
                     /note="isoform g is encoded by transcript variant 13"
                     /db_xref="GeneID:1993"
                     /db_xref="HGNC:HGNC:3313"
                     /db_xref="MIM:601673"
ORIGIN      
        1 mavrlcdvas llrsgswaae pwtgqviaam etqlsngptc nntangptti nnncsspvds
       61 gntedsktnl ivnylpqnmt qeelkslfgs igeiescklv rdkitgqslg ygfvnyidpk
      121 daekaintln glrlqtktik vsyarpssas irdanlyvsg lpktmtqkel eqlfsqygri
      181 itsrilvdqv tgisrgvgfi rfdkrieaee aikglngqkp pgatepitvk fannpsqktn
      241 qailsqlyqs pnrrypgpla qqaqrfrfsp mtidgmtsla ginipghpgt gwcifvynla
      301 pdadesilwq mfgpfgavtn vkvirdfntn kckgfgfvtm tnydeaamai aslngyrlgd
      361 rvlqvsfktn kthka
//
LOCUS       NP_001034450             474 aa            linear   PRI 18-DEC-2022
DEFINITION  PRAME family member 10 [Homo sapiens].
ACCESSION   NP_001034450 XP_496342 XP_947480
VERSION     NP_001034450.3
DBSOURCE    REFSEQ: accession NM_001039361.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 474)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (residues 1 to 474)
  AUTHORS   Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A,
            Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C,
            Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K,
            Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C,
            Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell
            RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel
            G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J,
            Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V,
            Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M,
            Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J,
            French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM,
            Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S,
            Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD,
            Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood
            J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK,
            Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G,
            Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush
            MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews
            NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN,
            Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck
            AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C,
            Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims
            S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey
            A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead
            SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z,
            Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R,
            Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S,
            Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill
            WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford
            CF, Pandian RD, Porter KM and Prigmore E.
  TITLE     The DNA sequence and biological annotation of human chromosome 1
  JOURNAL   Nature 441 (7091), 315-321 (2006)
   PUBMED   16710414
  REMARK    Erratum:[Nature. 2006 Oct 26;443(7114):1013. Banerjee, R [added];
            Bryant, SP [added]; Burford, DC [added]; Burrill, WDH [added];
            Clegg, SM [added]; Dhami, P [added]; Dovey, O [added]; Faulkner, LM
            [added]; Gribble, SM [added]; Langford, CF [added]; Pandian, RD
            [added]; Porter, KM [added]; Prigmore, E]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC245034.2.
            On Apr 9, 2014 this sequence version replaced NP_001034450.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC112208.1, AL049682.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155590, SAMEA2162895
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000235347.4/ ENSP00000235347.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..474
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     Protein         1..474
                     /product="PRAME family member 10"
                     /calculated_mol_wt=55080
     Region          97..124
                     /region_name="LRR 1, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4)"
     Region          179..203
                     /region_name="LRR 2, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4)"
     Region          204..230
                     /region_name="LRR 3, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4)"
     Region          231..265
                     /region_name="LRR 4, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4)"
     Region          266..291
                     /region_name="LRR 5.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4)"
     Region          292..323
                     /region_name="LRR 6.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4)"
     Region          324..342
                     /region_name="LRR 7.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4)"
     Region          348..375
                     /region_name="LRR 8.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4)"
     Region          376..400
                     /region_name="LRR 9.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4)"
     CDS             1..474
                     /gene="PRAMEF10"
                     /coded_by="NM_001039361.4:81..1505"
                     /db_xref="CCDS:CCDS41255.1"
                     /db_xref="GeneID:343071"
                     /db_xref="HGNC:HGNC:27997"
ORIGIN      
        1 mslqapsrll elagqsllrn qfltiftlde lprevfplmf meafsmrrfe alklmvqawp
       61 flrlplgslm ktphletlqa vlrgldtlva qkvrprrwkl qvldlrdvde nfwtiwsgar
      121 vlscspeams krqtvedcpr mgerqplkvf idlclkestl declsylfgw ihyrrglvhl
      181 ccskvqnysm ptssfrnlle riypdsiqel evwkkcslnk tgkfapylsq msnlrelfla
      241 fgyerelyvs vqwpcipdld spflclyypq mlyikkisni kehlehllry lknplgafif
      301 sdayltdrdm eclsqypsls qlkelrlihi lmwttnlepl gvllekvaat lktlvlkdcr
      361 iqdpqlrvll palshcsqlt tfnfhgnets mnalkdllrh trglsklgle lypaplesld
      421 ykghvnweil tpiraelmrt lrevrqpkri ffgpvpcpnc gswpsekvdf hlcs
//
LOCUS       NP_006238                499 aa            linear   PRI 25-DEC-2022
DEFINITION  serine/threonine-protein phosphatase 5 isoform 1 [Homo sapiens].
ACCESSION   NP_006238
VERSION     NP_006238.1
DBSOURCE    REFSEQ: accession NM_006247.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 499)
  AUTHORS   Dou L, Wang J, Deng R, Wang C, Xie Z and Yong W.
  TITLE     Over-expression of human PP5 gene in mice induces corneal
            hyperplasia and leads to ocular surface squamous neoplasia
  JOURNAL   Biochem Biophys Res Commun 529 (2), 487-493 (2020)
   PUBMED   32703456
  REMARK    GeneRIF: Over-expression of human PP5 gene in mice induces corneal
            hyperplasia and leads to ocular surface squamous neoplasia.
REFERENCE   2  (residues 1 to 499)
  AUTHORS   Wang L and Yan F.
  TITLE     Exploring the role of active site Mn2+ ions in the binding of
            protein phosphatase 5 with its substrate using molecular dynamics
            simulations
  JOURNAL   Biochem Biophys Res Commun 511 (3), 612-618 (2019)
   PUBMED   30826056
  REMARK    GeneRIF: The role of the catalytic Mn(2+) ions in regulating the
            binding of PP5 with its substrate was investigated through MD
            simulations. Results reveal that the different states of Mn(2+)
            ions can alter the structure of the active site and the
            conformations of the residues coordinating the Mn(2+) ions or the
            substrate.
REFERENCE   3  (residues 1 to 499)
  AUTHORS   D'Arcy BM, Swingle MR, Papke CM, Abney KA, Bouska ES, Prakash A and
            Honkanen RE.
  TITLE     The Antitumor Drug LB-100 Is a Catalytic Inhibitor of Protein
            Phosphatase 2A (PPP2CA) and 5 (PPP5C) Coordinating with the
            Active-Site Catalytic Metals in PPP5C
  JOURNAL   Mol Cancer Ther 18 (3), 556-566 (2019)
   PUBMED   30679389
  REMARK    GeneRIF: These data demonstrate that LB-100 is a catalytic
            inhibitor of both PP2AC and PPP5C and suggest that the observed
            antitumor activity might be due to an additive effect achieved by
            suppressing both PP2A and PPP5C.
REFERENCE   4  (residues 1 to 499)
  AUTHORS   Sager RA, Woodford MR, Backe SJ, Makedon AM, Baker-Williams AJ,
            DiGregorio BT, Loiselle DR, Haystead TA, Zachara NE, Prodromou C,
            Bourboulia D, Schmidt LS, Linehan WM, Bratslavsky G and Mollapour
            M.
  TITLE     Post-translational Regulation of FNIP1 Creates a Rheostat for the
            Molecular Chaperone Hsp90
  JOURNAL   Cell Rep 26 (5), 1344-1356 (2019)
   PUBMED   30699359
REFERENCE   5  (residues 1 to 499)
  AUTHORS   Assis LC, de Castro AA, Prandi IG, Mancini DT, de Giacoppo JOS,
            Savedra RML, de Assis TM, Carregal JB, da Cunha EFF and Ramalho TC.
  TITLE     Interactions of cantharidin-like inhibitors with human protein
            phosphatase-5 in a Mg2+ system: molecular dynamics and quantum
            calculations
  JOURNAL   J Mol Model 24 (10), 303 (2018)
   PUBMED   30280322
  REMARK    GeneRIF: This work offers insights of how cantharidin-like
            inhibitors interact with human PP5, potentially allowing the design
            of more specific and even less cytotoxic drugs for cancer
            treatments.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 499)
  AUTHORS   Zhao S and Sancar A.
  TITLE     Human blue-light photoreceptor hCRY2 specifically interacts with
            protein serine/threonine phosphatase 5 and modulates its activity
  JOURNAL   Photochem Photobiol 66 (5), 727-731 (1997)
   PUBMED   9383998
REFERENCE   7  (residues 1 to 499)
  AUTHORS   Silverstein AM, Galigniana MD, Chen MS, Owens-Grillo JK, Chinkers M
            and Pratt WB.
  TITLE     Protein phosphatase 5 is a major component of glucocorticoid
            receptor.hsp90 complexes with properties of an FK506-binding
            immunophilin
  JOURNAL   J Biol Chem 272 (26), 16224-16230 (1997)
   PUBMED   9195923
REFERENCE   8  (residues 1 to 499)
  AUTHORS   Xu X, Lagercrantz J, Zickert P, Bajalica-Lagercrantz S and
            Zetterberg A.
  TITLE     Chromosomal localization and 5' sequence of the human protein
            serine/threonine phosphatase 5' gene
  JOURNAL   Biochem Biophys Res Commun 218 (2), 514-517 (1996)
   PUBMED   8561788
REFERENCE   9  (residues 1 to 499)
  AUTHORS   Yong WH, Ueki K, Chou D, Reeves SA, von Deimling A, Gusella JF,
            Mohrenweiser HW, Buckler AJ and Louis DN.
  TITLE     Cloning of a highly conserved human protein serine-threonine
            phosphatase gene from the glioma candidate region on chromosome
            19q13.3
  JOURNAL   Genomics 29 (2), 533-536 (1995)
   PUBMED   8666404
REFERENCE   10 (residues 1 to 499)
  AUTHORS   Chen MX, McPartlin AE, Brown L, Chen YH, Barker HM and Cohen PT.
  TITLE     A novel human protein serine/threonine phosphatase, which possesses
            four tetratricopeptide repeat motifs and localizes to the nucleus
  JOURNAL   EMBO J 13 (18), 4278-4290 (1994)
   PUBMED   7925273
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC001970.1 and AC007193.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a serine/threonine phosphatase which is
            a member of the protein phosphatase catalytic subunit family.
            Proteins in this family participate in pathways regulated by
            reversible phosphorylation at serine and threonine residues; many
            of these pathways are involved in the regulation of cell growth and
            differentiation. The product of this gene has been shown to
            participate in signaling pathways in response to hormones or
            cellular stress, and elevated levels of this protein may be
            associated with breast cancer development. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Feb
            2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer protein (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK223222.1, SRR7410570.655620.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000012443.9/ ENSP00000012443.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..499
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     Protein         1..499
                     /product="serine/threonine-protein phosphatase 5 isoform
                     1"
                     /EC_number="3.1.3.16"
                     /note="serine/threonine-protein phosphatase 5; PP-T;
                     protein phosphatase T"
                     /calculated_mol_wt=56748
     Region          1..23
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P53041.1)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P53041.1)"
     Region          28..>145
                     /region_name="PLN03088"
                     /note="SGT1, suppressor of G2 allele of SKP1; Provisional"
                     /db_xref="CDD:215568"
     Region          28..61
                     /region_name="TPR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P53041.1)"
     Region          28..56
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(29,32..33,36..37,39,63,66..67,70..71,73..74,97,
                     100..101,104..105,108)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          61..91
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          62..95
                     /region_name="TPR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P53041.1)"
     Region          96..129
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (P53041.1)"
     Region          96..124
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          176..491
                     /region_name="MPP_PP5_C"
                     /note="PP5, C-terminal metallophosphatase domain; cd07417"
                     /db_xref="CDD:277362"
     Region          184..499
                     /region_name="Catalytic"
                     /note="propagated from UniProtKB/Swiss-Prot (P53041.1)"
     Site            order(242,244,271,274..275,303..304,352,386,400,427,451)
                     /site_type="active"
                     /db_xref="CDD:277362"
     Site            order(242,244,271,303,352,427)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:277362"
     Site            order(275,313,397,399..401,451,454)
                     /site_type="other"
                     /note="TPR interaction site [polypeptide binding]"
                     /db_xref="CDD:277362"
     Region          495..499
                     /region_name="Required for autoinhibition.
                     /evidence=ECO:0000250|UniProtKB:P53042"
                     /note="propagated from UniProtKB/Swiss-Prot (P53041.1)"
     CDS             1..499
                     /gene="PPP5C"
                     /gene_synonym="PP5; PPP5; PPT"
                     /coded_by="NM_006247.4:11..1510"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS12684.1"
                     /db_xref="GeneID:5536"
                     /db_xref="HGNC:HGNC:9322"
                     /db_xref="MIM:600658"
ORIGIN      
        1 mamaegerte caepprdepp adgalkraee lktqandyfk akdyenaikf ysqaielnps
       61 naiyygnrsl aylrtecygy algdatraie ldkkyikgyy rraasnmalg kfraalrdye
      121 tvvkvkphdk dakmkyqecn kivkqkafer aiagdehkrs vvdsldiesm tiedeysgpk
      181 ledgkvtisf mkelmqwykd qkklhrkcay qilvqvkevl sklstlvett lketekitvc
      241 gdthgqfydl lnifelnglp setnpyifng dfvdrgsfsv eviltlfgfk llypdhfhll
      301 rgnhetdnmn qiygfegevk akytaqmyel fsevfewlpl aqcingkvli mhgglfsedg
      361 vtlddirkie rnrqppdsgp mcdllwsdpq pqngrsiskr gvscqfgpdv tkafleennl
      421 dyiirshevk aegyevahgg rcvtvfsapn ycdqmgnkas yihlqgsdlr pqfhqftavp
      481 hpnvkpmaya ntllqlgmm
//
LOCUS       NP_001159490             655 aa            linear   PRI 25-DEC-2022
DEFINITION  POU domain, class 6, transcription factor 2 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001159490
VERSION     NP_001159490.1
DBSOURCE    REFSEQ: accession NM_001166018.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 655)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 655)
  AUTHORS   Miao Y, Li C, Guo J, Wang H, Gong L, Xie W and Zhang Y.
  TITLE     Identification of a novel somatic mutation of POU6F2 by
            whole-genome sequencing in prolactinoma
  JOURNAL   Mol Genet Genomic Med 7 (12), e1022 (2019)
   PUBMED   31692290
  REMARK    GeneRIF: Whole-genome sequencing identified two novel somatic
            mutations in the POU6F2 gene (c. 839 C>T; c. 875A>G) in patients
            with prolactinoma. The mutations obviously decreased the expression
            level of POU6F2. Inhibition its activity increased the cell
            proliferation and PRL secretion in pituitary tumor cell line, but
            proliferation and PRL secretion were decreased in cells with POU6F2
            overexpression.
REFERENCE   3  (residues 1 to 655)
  AUTHORS   King R, Struebing FL, Li Y, Wang J, Koch AA, Cooke Bailey JN,
            Gharahkhani P, MacGregor S, Allingham RR, Hauser MA, Wiggs JL and
            Geisert EE.
  CONSRTM   International Glaucoma Genetics Consortium; NEIGHBORHOOD Consortium
  TITLE     Genomic locus modulating corneal thickness in the mouse identifies
            POU6F2 as a potential risk of developing glaucoma
  JOURNAL   PLoS Genet 14 (1), e1007145 (2018)
   PUBMED   29370175
  REMARK    GeneRIF: Genomic loci were examined in the NEIGHBORHOOD database to
            determine if they are potential risk factors for human glaucoma
            identified using meta-data from human GWAS. The top 50 hits all
            resided within one gene (POU6F2), with the highest significance
            level of p = 10-6 for SNP rs76319873. POU6F2 is found in retinal
            ganglion cells and in corneal limbal stem cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 655)
  AUTHORS   Yoshihara M, Hara S, Tsujikawa M, Kawasaki S, Hayashizaki Y, Itoh
            M, Kawaji H and Nishida K.
  TITLE     Restricted Presence of POU6F2 in Human Corneal Endothelial Cells
            Uncovered by Extension of the Promoter-level Expression Atlas
  JOURNAL   EBioMedicine 25, 175-186 (2017)
   PUBMED   29113774
  REMARK    GeneRIF: We further discovered that the expression of transcription
            factor POU class 6 homeobox 2 (POU6F2) is restricted to Corneal
            endothelial cells (CECs) , and upregulated during human CEC
            differentiation, suggesting that POU6F2 is pivotal to terminal
            differentiation of CECs
REFERENCE   5  (residues 1 to 655)
  AUTHORS   Fiorino A, Manenti G, Gamba B, Bucci G, De Cecco L, Sardella M,
            Buscemi G, Ciceri S, Radice MT, Radice P and Perotti D.
  TITLE     Retina-derived POU domain factor 1 coordinates expression of genes
            relevant to renal and neuronal development
  JOURNAL   Int J Biochem Cell Biol 78, 162-172 (2016)
   PUBMED   27425396
  REMARK    GeneRIF: Retina-derived POU domain factor 1 coordinates expression
            of genes relevant to renal and neuronal development
REFERENCE   6  (residues 1 to 655)
  AUTHORS   Perotti D, Vecchi GD, Lualdi E, Testi MA, Sozzi G, Collini P,
            Spreafico F, Terenziani M, Fossati-Bellani F and Radice P.
  TITLE     Wilms tumor in monozygous twins: clinical, pathological,
            cytogenetic and molecular case report
  JOURNAL   J Pediatr Hematol Oncol 27 (10), 521-525 (2005)
   PUBMED   16217254
REFERENCE   7  (residues 1 to 655)
  AUTHORS   Perotti D, De Vecchi G, Testi MA, Lualdi E, Modena P, Mondini P,
            Ravagnani F, Collini P, Di Renzo F, Spreafico F, Terenziani M,
            Sozzi G, Fossati-Bellani F and Radice P.
  TITLE     Germline mutations of the POU6F2 gene in Wilms tumors with loss of
            heterozygosity on chromosome 7p14
  JOURNAL   Hum Mutat 24 (5), 400-407 (2004)
   PUBMED   15459955
  REMARK    GeneRIF: observations suggest that POU6F2 is a tumor suppressor and
            is involved in hereditary predisposition to Wilms tumor
REFERENCE   8  (residues 1 to 655)
  AUTHORS   Perotti D, Testi MA, Mondini P, Pilotti S, Green ED, Pession A,
            Sozzi G, Pierotti MA, Fossati-Bellani F and Radice P.
  TITLE     Refinement within single yeast artificial chromosome clones of a
            minimal region commonly deleted on the short arm of chromosome 7 in
            Wilms tumours
  JOURNAL   Genes Chromosomes Cancer 31 (1), 42-47 (2001)
   PUBMED   11284034
REFERENCE   9  (residues 1 to 655)
  AUTHORS   Phillips K and Luisi B.
  TITLE     The virtuoso of versatility: POU proteins that flex to fit
  JOURNAL   J Mol Biol 302 (5), 1023-1039 (2000)
   PUBMED   11183772
  REMARK    Review article
REFERENCE   10 (residues 1 to 655)
  AUTHORS   Zhou H, Yoshioka T and Nathans J.
  TITLE     Retina-derived POU-domain factor-1: a complex POU-domain gene
            implicated in the development of retinal ganglion and amacrine
            cells
  JOURNAL   J Neurosci 16 (7), 2261-2274 (1996)
   PUBMED   8601806
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011292.3, AC073345.11,
            AC092174.5 and AC005483.1.
            
            Summary: This gene encodes a member of the POU protein family
            characterized by the presence of a bipartite DNA binding domain,
            consisting of a POU-specific domain and a homeodomain, separated by
            a variable polylinker. The DNA binding domain may bind to DNA as
            monomers or as homo- and/or heterodimers, in a sequence-specific
            manner. The POU family members are transcriptional regulators, many
            of which are known to control cell type-specific differentiation
            pathways. This gene is a tumor suppressor involved in Wilms tumor
            (WT) predisposition. Alternatively spliced transcript variants
            encoding distinct isoforms have been found for this gene.[provided
            by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (2) lacks an in-frame segment in
            the 3' coding region, as compared to variant 1. The resulting
            isoform (2) is shorter than isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: U91935.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1968968,
                                    SAMEA2142348 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..655
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.1"
     Protein         1..655
                     /product="POU domain, class 6, transcription factor 2
                     isoform 2"
                     /note="Wilms tumor suppressor locus; retina-derived
                     POU-domain factor-1; POU domain, class 6, transcription
                     factor 2"
                     /calculated_mol_wt=69117
     Region          477..550
                     /region_name="Pou"
                     /note="Pou domain - N-terminal to homeobox domain;
                     cl22952"
                     /db_xref="CDD:451464"
     Site            order(572..576,578,595,601,614,616..617,620..621,623..625,
                     627..628)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          574..627
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     Site            order(574,577,617,620..621,624)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     CDS             1..655
                     /gene="POU6F2"
                     /gene_synonym="RPF-1; WT5; WTSL"
                     /coded_by="NM_001166018.2:244..2211"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:11281"
                     /db_xref="HGNC:HGNC:21694"
                     /db_xref="MIM:609062"
ORIGIN      
        1 msallqdpmi agqvskplls vrsemnaelr gedkaatsds elnepllapv esndsedtps
       61 klfgargnpa lsdpgtpdqh qasqthppfp vgpqplltaq qlasavagvm pggppalnqp
      121 ilipfnmagq lggqqglvlt lptanltniq glvaaaaagg imtlplqnlq atsslnsqlq
      181 qlqlqlqqqq qqqqqqppps tnqhpqpapq apsqsqqqpl qptppqqppp asqqppapts
      241 qlqqapqpqq hqphshsqnq nqpsptqqss sppqkpsqsp ghglpspltp pnplqlvnnp
      301 lasqaaaaaa amssiassqa fgnalsslqg vtgqlvtnaq gqiigtiplm pnpgpssqaa
      361 sgtqglqvqp itpqlltnaq gqiiatvign qilpvintqg itlspikpgq qlhqpsqtsv
      421 gqaasqgnll hlahsqasms qspvrqasss ssssssssal svgqlvsnpq taagevdgvn
      481 leeirefaka fkirrlslgl tqtqvgqals ategpaysqs aicrfekldi tpksaqkikp
      541 vlerwmaeae arhragmqnl tefigsepsk krkrrtsftp qaleilnahf eknthpsgqe
      601 mteiaeklny drevvrvwfc nkrqalknti krlkqhepat avplepltds leens
//
LOCUS       NP_001137384             341 aa            linear   PRI 26-DEC-2022
DEFINITION  protein FAM76A isoform 1 [Homo sapiens].
ACCESSION   NP_001137384
VERSION     NP_001137384.1
DBSOURCE    REFSEQ: accession NM_001143912.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 341)
  AUTHORS   Salichs E, Ledda A, Mularoni L, Alba MM and de la Luna S.
  TITLE     Genome-wide analysis of histidine repeats reveals their role in the
            localization of human proteins to the nuclear speckles compartment
  JOURNAL   PLoS Genet 5 (3), e1000397 (2009)
   PUBMED   19266028
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL020997.1, BC025768.1 and AL035307.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL035307.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968968,
                                           SAMEA2142348 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..341
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.3"
     Protein         1..341
                     /product="protein FAM76A isoform 1"
                     /note="protein FAM76A"
                     /calculated_mol_wt=38322
     Region          4..326
                     /region_name="FAM76"
                     /note="FAM76 protein; pfam16046"
                     /db_xref="CDD:435098"
     CDS             1..341
                     /gene="FAM76A"
                     /coded_by="NM_001143912.2:121..1146"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS44092.1"
                     /db_xref="GeneID:199870"
                     /db_xref="HGNC:HGNC:28530"
ORIGIN      
        1 maalyactkc hqrfpfeals qgqqlckecr iahpvvkcty crteyqqerl ecngtisahc
       61 nlhlpgssds passsrvagi tgiktntick kcaqnvqlyg tpkpcqycni iaafignkcq
      121 rctnsekkyg ppysceqckq qcafdrkddr kkvdgkllcw lctlsykrvl qktkeqrkhl
      181 ssssraghqe keqysrlsgg ghynsqktls tssiqneipk kkskfesitt ngdsfspdla
      241 ldspgtdhfv iiaqlkeeva tlkkmlhqkd qmilekekki telkadfqyq esqmrakmnq
      301 mekthkevte qlqaknrell kqaaalsksk kseksgaits p
//
LOCUS       NP_001265249              93 aa            linear   PRI 26-DEC-2022
DEFINITION  membrane-spanning 4-domains subfamily A member 13 isoform 3
            precursor [Homo sapiens].
ACCESSION   NP_001265249
VERSION     NP_001265249.1
DBSOURCE    REFSEQ: accession NM_001278320.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 93)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 93)
  AUTHORS   Yu B, Zheng Y, Alexander D, Manolio TA, Alonso A, Nettleton JA and
            Boerwinkle E.
  TITLE     Genome-wide association study of a heart failure related
            metabolomic profile among African Americans in the Atherosclerosis
            Risk in Communities (ARIC) study
  JOURNAL   Genet Epidemiol 37 (8), 840-845 (2013)
   PUBMED   23934736
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001034.5, AA431602.1 and AY324189.1.
            
            Transcript Variant: This variant (3) lacks two consecutive exons in
            the central coding region, but maintains the reading frame,
            compared to variant 1. The resulting isoform (3) lacks an internal
            segment, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY324189.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..93
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.2"
     Protein         1..93
                     /product="membrane-spanning 4-domains subfamily A member
                     13 isoform 3 precursor"
                     /note="testis-expressed transmembrane-4 protein;
                     testis-expressed transmembrane protein 4;
                     membrane-spanning 4-domains subfamily A member 13"
                     /calculated_mol_wt=7977
     sig_peptide     1..23
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2822
     Site            1..21
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5J8X5.2)"
     CDS             1..93
                     /gene="MS4A13"
                     /coded_by="NM_001278320.2:345..626"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS60801.1"
                     /db_xref="GeneID:503497"
                     /db_xref="HGNC:HGNC:16674"
ORIGIN      
        1 migifhifmw yfllvlymgq ikgafgtyep vtyktgctlw gifklgrevs rillffygle
       61 fsialthsiy scsnlfrrqn dltsvteeae stp
//
LOCUS       NP_659435                 63 aa            linear   PRI 27-DEC-2022
DEFINITION  centromere protein X isoform 2 [Homo sapiens].
ACCESSION   NP_659435
VERSION     NP_659435.2
DBSOURCE    REFSEQ: accession NM_144998.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 63)
  AUTHORS   Girard C, Crismani W, Froger N, Mazel J, Lemhemdi A, Horlow C and
            Mercier R.
  TITLE     FANCM-associated proteins MHF1 and MHF2, but not the other Fanconi
            anemia factors, limit meiotic crossovers
  JOURNAL   Nucleic Acids Res 42 (14), 9087-9095 (2014)
   PUBMED   25038251
REFERENCE   2  (residues 1 to 63)
  AUTHORS   Fox D 3rd, Yan Z, Ling C, Zhao Y, Lee DY, Fukagawa T, Yang W and
            Wang W.
  TITLE     The histone-fold complex MHF is remodeled by FANCM to recognize
            branched DNA and protect genome stability
  JOURNAL   Cell Res 24 (5), 560-575 (2014)
   PUBMED   24699063
  REMARK    GeneRIF: The MHF complex, which is a heterotetramer that comprises
            two MHF1-MHF2 heterodimers, is remodeled by FANCM to favor
            recognition of branched DNA over dsDNA.
REFERENCE   3  (residues 1 to 63)
  AUTHORS   Dornblut C, Quinn N, Monajambashi S, Prendergast L, van Vuuren C,
            Munch S, Deng W, Leonhardt H, Cardoso MC, Hoischen C, Diekmann S
            and Sullivan KF.
  TITLE     A CENP-S/X complex assembles at the centromere in S and G2 phases
            of the human cell cycle
  JOURNAL   Open Biol 4 (2), 130229 (2014)
   PUBMED   24522885
  REMARK    GeneRIF: CENPX assembly in living human cells, revealing a window
            in S phase and G2 in which de novo assembly of the complex from a
            soluble precursor occurs through a dynamic exchange mechanism.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 63)
  AUTHORS   Zhao Q, Saro D, Sachpatzidis A, Singh TR, Schlingman D, Zheng XF,
            Mack A, Tsai MS, Mochrie S, Regan L, Meetei AR, Sung P and Xiong Y.
  TITLE     The MHF complex senses branched DNA by binding a pair of crossover
            DNA duplexes
  JOURNAL   Nat Commun 5, 2987 (2014)
   PUBMED   24390579
  REMARK    GeneRIF: MHF prefers branched DNA over dsDNA because it engages two
            duplex arms. MHF engages DNA forks or various four-way junctions
            independent of the junction-site structure. The DNA-binding
            interface of MHF is important for cellular resistance to DNA
            damage.
REFERENCE   5  (residues 1 to 63)
  AUTHORS   Osman F and Whitby MC.
  TITLE     Emerging roles for centromere-associated proteins in DNA repair and
            genetic recombination
  JOURNAL   Biochem Soc Trans 41 (6), 1726-1730 (2013)
   PUBMED   24256282
  REMARK    GeneRIF: It discusses current knowledge of the biological roles of
            CENP-S and CENP-X and how their dual existence may be a common
            feature of CCAN (constitutive centromere-associated network)
            proteins.
            Review article
REFERENCE   6  (residues 1 to 63)
  AUTHORS   Singh TR, Saro D, Ali AM, Zheng XF, Du CH, Killen MW, Sachpatzidis
            A, Wahengbam K, Pierce AJ, Xiong Y, Sung P and Meetei AR.
  TITLE     MHF1-MHF2, a histone-fold-containing protein complex, participates
            in the Fanconi anemia pathway via FANCM
  JOURNAL   Mol Cell 37 (6), 879-886 (2010)
   PUBMED   20347429
  REMARK    GeneRIF: provide biochemical evidence that MHF1 and MHF2 assemble
            into a heterodimer that binds DNA and enhances the DNA branch
            migration activity of FANCM.
REFERENCE   7  (residues 1 to 63)
  AUTHORS   Yan Z, Delannoy M, Ling C, Daee D, Osman F, Muniandy PA, Shen X,
            Oostra AB, Du H, Steltenpool J, Lin T, Schuster B, Decaillet C,
            Stasiak A, Stasiak AZ, Stone S, Hoatlin ME, Schindler D, Woodcock
            CL, Joenje H, Sen R, de Winter JP, Li L, Seidman MM, Whitby MC,
            Myung K, Constantinou A and Wang W.
  TITLE     A histone-fold complex and FANCM form a conserved DNA-remodeling
            complex to maintain genome stability
  JOURNAL   Mol Cell 37 (6), 865-878 (2010)
   PUBMED   20347428
REFERENCE   8  (residues 1 to 63)
  AUTHORS   Amano M, Suzuki A, Hori T, Backer C, Okawa K, Cheeseman IM and
            Fukagawa T.
  TITLE     The CENP-S complex is essential for the stable assembly of outer
            kinetochore structure
  JOURNAL   J Cell Biol 186 (2), 173-182 (2009)
   PUBMED   19620631
  REMARK    GeneRIF: Results identified a centromere protein S
            (CENP-S)-containing subcomplex that includes the new constitutive
            kinetochore protein CENP-X [Stra13]
REFERENCE   9  (residues 1 to 63)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   10 (residues 1 to 63)
  AUTHORS   Scott LM, Mueller L and Collins SJ.
  TITLE     E3, a hematopoietic-specific transcript directly regulated by the
            retinoic acid receptor alpha
  JOURNAL   Blood 88 (7), 2517-2530 (1996)
   PUBMED   8839844
  REMARK    GeneRIF: Identification of human and mouse homologs of clone D9 of
            a murine promyelocyte cell line that was upregulated by retinoic
            acid.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC009571.1 and BC011610.1.
            On Aug 1, 2005 this sequence version replaced NP_659435.1.
            
            Transcript Variant: This variant (2) lacks an exon in the coding
            region, compared to variant 1. The encoded isoform (2) is shorter,
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC009571.1, BG701102.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..63
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..63
                     /product="centromere protein X isoform 2"
                     /note="FANCM-interacting histone fold protein 2; Fanconi
                     anemia-associated polypeptide of 10 kDa; stimulated by
                     retinoic acid 13 homolog; retinoic acid-inducible gene D9
                     protein homolog; stimulated by retinoic acid gene 13
                     protein homolog; FANCM associated histone fold protein 2"
                     /calculated_mol_wt=6886
     Region          12..62
                     /region_name="CENP-X"
                     /note="CENP-S associating Centromere protein X; pfam09415"
                     /db_xref="CDD:430597"
     CDS             1..63
                     /gene="CENPX"
                     /gene_synonym="CENP-X; D9; FAAP10; MHF2; STRA13"
                     /coded_by="NM_144998.4:18..209"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS32772.1"
                     /db_xref="GeneID:201254"
                     /db_xref="HGNC:HGNC:11422"
                     /db_xref="MIM:615128"
ORIGIN      
        1 megagagsgf rkelvsrllh lhfkddktke aavrgvrqaq aedalrvdvd qlekvlpqll
       61 ldf
//
LOCUS       NP_001364165             697 aa            linear   PRI 27-DEC-2022
DEFINITION  aryl hydrocarbon receptor repressor [Homo sapiens].
ACCESSION   NP_001364165
VERSION     NP_001364165.1
DBSOURCE    REFSEQ: accession NM_001377236.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 697)
  AUTHORS   Chen Q, Nwozor KO, van den Berge M, Slebos DJ, Faiz A, Jonker MR,
            Boezen HM, Heijink IH and de Vries M.
  TITLE     From Differential DNA Methylation in COPD to Mitochondria:
            Regulation of AHRR Expression Affects Airway Epithelial Response to
            Cigarette Smoke
  JOURNAL   Cells 11 (21), 3423 (2022)
   PUBMED   36359818
  REMARK    GeneRIF: From Differential DNA Methylation in COPD to Mitochondria:
            Regulation of AHRR Expression Affects Airway Epithelial Response to
            Cigarette Smoke.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 697)
  AUTHORS   Zhu L, Zhu C, Wang J, Yang R and Zhao X.
  TITLE     The association between DNA methylation of 6p21.33 and AHRR in
            blood and coronary heart disease in Chinese population
  JOURNAL   BMC Cardiovasc Disord 22 (1), 370 (2022)
   PUBMED   35964014
  REMARK    GeneRIF: The association between DNA methylation of 6p21.33 and
            AHRR in blood and coronary heart disease in Chinese population.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 697)
  AUTHORS   Jacobsen KK, Schnohr P, Jensen GB and Bojesen SE.
  TITLE     AHRR (cg05575921) Methylation Safely Improves Specificity of Lung
            Cancer Screening Eligibility Criteria: A Cohort Study
  JOURNAL   Cancer Epidemiol Biomarkers Prev 31 (4), 758-765 (2022)
   PUBMED   35064064
  REMARK    GeneRIF: AHRR (cg05575921) Methylation Safely Improves Specificity
            of Lung Cancer Screening Eligibility Criteria: A Cohort Study.
REFERENCE   4  (residues 1 to 697)
  AUTHORS   Zhang TP, Li R, Li HM, Xiang N, Tan Z, Wang GS and Li XM.
  TITLE     The Contribution of Genetic Variation and Aberrant Methylation of
            Aryl Hydrocarbon Receptor Signaling Pathway Genes to Rheumatoid
            Arthritis
  JOURNAL   Front Immunol 13, 823863 (2022)
   PUBMED   35309329
  REMARK    GeneRIF: The Contribution of Genetic Variation and Aberrant
            Methylation of Aryl Hydrocarbon Receptor Signaling Pathway Genes to
            Rheumatoid Arthritis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 697)
  AUTHORS   El-Haddad NW, El Kawak M, El Asmar K, Jabbour ME, Moussa MA, Habib
            RR and Dhaini HR.
  TITLE     AhRR methylation contributes to disease progression in urothelial
            bladder cancer
  JOURNAL   Cancer Biomark 35 (2), 167-177 (2022)
   PUBMED   36093686
  REMARK    GeneRIF: AhRR methylation contributes to disease progression in
            urothelial bladder cancer.
REFERENCE   6  (residues 1 to 697)
  AUTHORS   Karchner SI, Jenny MJ, Tarrant AM, Evans BR, Kang HJ, Bae I, Sherr
            DH and Hahn ME.
  TITLE     The active form of human aryl hydrocarbon receptor (AHR) repressor
            lacks exon 8, and its Pro 185 and Ala 185 variants repress both AHR
            and hypoxia-inducible factor
  JOURNAL   Mol Cell Biol 29 (13), 3465-3477 (2009)
   PUBMED   19380484
  REMARK    GeneRIF: Results identify aryl hydrocarbon receptor (AHR) repressor
            (AHRR) Delta8 as the active form of human AHRR and reveal novel
            aspects of its function and specificity as a repressor of AHR.
REFERENCE   7  (residues 1 to 697)
  AUTHORS   Baba T, Mimura J, Gradin K, Kuroiwa A, Watanabe T, Matsuda Y,
            Inazawa J, Sogawa K and Fujii-Kuriyama Y.
  TITLE     Structure and expression of the Ah receptor repressor gene
  JOURNAL   J Biol Chem 276 (35), 33101-33110 (2001)
   PUBMED   11423533
REFERENCE   8  (residues 1 to 697)
  AUTHORS   Watanabe T, Imoto I, Kosugi Y, Fukuda Y, Mimura J, Fujii Y, Isaka
            K, Takayama M, Sato A and Inazawa J.
  TITLE     Human arylhydrocarbon receptor repressor (AHRR) gene: genomic
            structure and analysis of polymorphism in endometriosis
  JOURNAL   J Hum Genet 46 (6), 342-346 (2001)
   PUBMED   11393538
REFERENCE   9  (residues 1 to 697)
  AUTHORS   Mimura J, Ema M, Sogawa K and Fujii-Kuriyama Y.
  TITLE     Identification of a novel mechanism of regulation of Ah (dioxin)
            receptor function
  JOURNAL   Genes Dev 13 (1), 20-25 (1999)
   PUBMED   9887096
REFERENCE   10 (residues 1 to 697)
  AUTHORS   Brown,S., Wiebel,F.J., Gelboin,H.V. and Minna,J.D.
  TITLE     Assignment of a locus required for flavoprotein-linked
            monooxygenase expression to human chromosome 2
  JOURNAL   Proc Natl Acad Sci U S A 73 (12), 4628-4632 (1976)
   PUBMED   1070014
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC118458.2 and AC010442.7.
            
            Summary: The protein encoded by this gene participates in the aryl
            hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin
            toxicity, and is involved in regulation of cell growth and
            differentiation. It functions as a feedback modulator by repressing
            AhR-dependent gene expression. Alternatively spliced transcript
            variants encoding different isoforms have been described for this
            gene. [provided by RefSeq, Jun 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853560.22631.1,
                                           SRR14038194.1615326.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2154405
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000684583.1/ ENSP00000507476.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..697
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     Protein         1..697
                     /product="aryl hydrocarbon receptor repressor"
                     /note="dioxin receptor repressor; aryl hydrocarbon
                     hydroxylase regulator; ahR repressor; class E basic
                     helix-loop-helix protein 77"
                     /calculated_mol_wt=75649
     Region          26..85
                     /region_name="bHLH-PAS_AhRR"
                     /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS)
                     domain found in aryl hydrocarbon receptor repressor (AhRR)
                     and similar proteins; cd11435"
                     /db_xref="CDD:381441"
     Site            order(31..37,39,41,62..64)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381441"
     Site            order(39..40,43,46..47,49..53,62..64,67..68,70..78,80)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:381441"
     Region          113..176
                     /region_name="PAS"
                     /note="PAS domain; smart00091"
                     /db_xref="CDD:214512"
     CDS             1..697
                     /gene="AHRR"
                     /gene_synonym="AHH; AHHR; bHLHe77"
                     /coded_by="NM_001377236.1:117..2210"
                     /db_xref="CCDS:CCDS93682.1"
                     /db_xref="GeneID:57491"
                     /db_xref="HGNC:HGNC:346"
                     /db_xref="MIM:606517"
ORIGIN      
        1 mippgectya grkrrrplqk qrpavgaeks npskrhrdrl naeldhlasl lpfppdiisk
       61 ldklsvlrls vsylrvksff qvvqeqssrq paagapspgd scplagsavl egrlllesln
      121 gfalvvsaeg tifyasativ dylgfhqtdv mhqniydyih vddrqdfcrq lhwamdppqv
      181 vfgqppplet gddailgrll raqewgtgtp teysafltrc ficrvrclld stsgfltmqf
      241 qgklkflfgq kkkapsgaml pprlslfcia apvllpsaae mkmrsallra kpradtaata
      301 dakvkattsl ceselhgkpn ysagrssres gvlvlreqtd agrwaqvpar apclclrggp
      361 dlvldpkggs gdreeeqhrm lsrasgvtgr retpgptkpl pwtagkhsed garprlqpsk
      421 ndppslrpmp rgsclpcpcv qgtfrnspis hppspspsay ssrtsrpmrd vgedqvhppl
      481 chfpqrslqh qlpqpgaqrf atrgypmedm klqgvpmppg dlcgptllld vsikmekdsg
      541 cegaadgcvp sqvwlgasdr shpatfptrm hlktepdsrq qvyishlghg vrgaqphgra
      601 tagrsreltp fhpahcacle ptdglpqsep phqlcargrg eqsctcraae aapvvkrepl
      661 dspqwathsq gmvpgmlpks alatlvppqa sgctflp
//
LOCUS       NP_001166110             512 aa            linear   PRI 27-DEC-2022
DEFINITION  CUGBP Elav-like family member 1 isoform 4 [Homo sapiens].
ACCESSION   NP_001166110
VERSION     NP_001166110.1
DBSOURCE    REFSEQ: accession NM_001172639.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 512)
  AUTHORS   David G, Reboutier D, Deschamps S, Mereau A, Taylor W,
            Padilla-Parra S, Tramier M, Audic Y and Paillard L.
  TITLE     The RNA-binding proteins CELF1 and ELAVL1 cooperatively control the
            alternative splicing of CD44
  JOURNAL   Biochem Biophys Res Commun 626, 79-84 (2022)
   PUBMED   35973378
  REMARK    GeneRIF: The RNA-binding proteins CELF1 and ELAVL1 cooperatively
            control the alternative splicing of CD44.
REFERENCE   2  (residues 1 to 512)
  AUTHORS   Zhao X, Wang J, Zhu R, Zhang J and Zhang Y.
  TITLE     DLX6-AS1 activated by H3K4me1 enhanced secondary cisplatin
            resistance of lung squamous cell carcinoma through modulating
            miR-181a-5p/miR-382-5p/CELF1 axis
  JOURNAL   Sci Rep 11 (1), 21014 (2021)
   PUBMED   34697393
  REMARK    GeneRIF: DLX6-AS1 activated by H3K4me1 enhanced secondary cisplatin
            resistance of lung squamous cell carcinoma through modulating
            miR-181a-5p/miR-382-5p/CELF1 axis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 512)
  AUTHORS   Liu C, Wang H, Tang L, Huang H, Xu M, Lin Y, Zhou L, Ho L, Lu J and
            Ai X.
  TITLE     LncRNA BACE1-AS enhances the invasive and metastatic capacity of
            hepatocellular carcinoma cells through mediating miR-377-3p/CELF1
            axis
  JOURNAL   Life Sci 275, 119288 (2021)
   PUBMED   33667514
  REMARK    GeneRIF: LncRNA BACE1-AS enhances the invasive and metastatic
            capacity of hepatocellular carcinoma cells through mediating
            miR-377-3p/CELF1 axis.
REFERENCE   4  (residues 1 to 512)
  AUTHORS   Jin H, Liang G, Yang L, Liu L, Wang B and Yan F.
  TITLE     SP1-induced AFAP1-AS1 contributes to proliferation and invasion by
            regulating miR-497-5p/CELF1 pathway in nasopharyngeal carcinoma
  JOURNAL   Hum Cell 34 (2), 491-501 (2021)
   PUBMED   33400247
  REMARK    GeneRIF: SP1-induced AFAP1-AS1 contributes to proliferation and
            invasion by regulating miR-497-5p/CELF1 pathway in nasopharyngeal
            carcinoma.
REFERENCE   5  (residues 1 to 512)
  AUTHORS   Wang H, Huang R, Guo W, Qin X, Yang Z, Yuan Z, Wei Y, Mo C, Zeng Z,
            Luo J, Cai J and Wang H.
  TITLE     RNA-binding protein CELF1 enhances cell migration, invasion, and
            chemoresistance by targeting ETS2 in colorectal cancer
  JOURNAL   Clin Sci (Lond) 134 (14), 1973-1990 (2020)
   PUBMED   32677671
  REMARK    GeneRIF: RNA-binding protein CELF1 enhances cell migration,
            invasion, and chemoresistance by targeting ETS2 in colorectal
            cancer.
REFERENCE   6  (residues 1 to 512)
  AUTHORS   Michalowski S, Miller JW, Urbinati CR, Paliouras M, Swanson MS and
            Griffith J.
  TITLE     Visualization of double-stranded RNAs from the myotonic dystrophy
            protein kinase gene and interactions with CUG-binding protein
  JOURNAL   Nucleic Acids Res 27 (17), 3534-3542 (1999)
   PUBMED   10446244
REFERENCE   7  (residues 1 to 512)
  AUTHORS   Roberts R, Timchenko NA, Miller JW, Reddy S, Caskey CT, Swanson MS
            and Timchenko LT.
  TITLE     Altered phosphorylation and intracellular distribution of a (CUG)n
            triplet repeat RNA-binding protein in patients with myotonic
            dystrophy and in myotonin protein kinase knockout mice
  JOURNAL   Proc Natl Acad Sci U S A 94 (24), 13221-13226 (1997)
   PUBMED   9371827
REFERENCE   8  (residues 1 to 512)
  AUTHORS   Timchenko LT, Miller JW, Timchenko NA, DeVore DR, Datar KV, Lin L,
            Roberts R, Caskey CT and Swanson MS.
  TITLE     Identification of a (CUG)n triplet repeat RNA-binding protein and
            its expression in myotonic dystrophy
  JOURNAL   Nucleic Acids Res 24 (22), 4407-4414 (1996)
   PUBMED   8948631
REFERENCE   9  (residues 1 to 512)
  AUTHORS   Bhagavati S, Ghatpande A and Leung B.
  TITLE     Identification of two nuclear proteins which bind to RNA CUG
            repeats: significance for myotonic dystrophy
  JOURNAL   Biochem Biophys Res Commun 228 (1), 55-62 (1996)
   PUBMED   8912635
  REMARK    Erratum:[Biochem Biophys Res Commun. 2008 Jun;370(3):530. Bhagwati,
            S [corrected to Bhagavati, S]]
REFERENCE   10 (residues 1 to 512)
  AUTHORS   Timchenko LT, Timchenko NA, Caskey CT and Roberts R.
  TITLE     Novel proteins with binding specificity for DNA CTG repeats and RNA
            CUG repeats: implications for myotonic dystrophy
  JOURNAL   Hum Mol Genet 5 (1), 115-121 (1996)
   PUBMED   8789448
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090559.7.
            
            Summary: Members of the CELF/BRUNOL protein family contain two
            N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM
            domain, and a divergent segment of 160-230 aa between the second
            and third RRM domains. Members of this protein family regulate
            pre-mRNA alternative splicing and may also be involved in mRNA
            editing, and translation. This gene may play a role in myotonic
            dystrophy type 1 (DM1) via interactions with the dystrophia
            myotonica-protein kinase (DMPK) gene. Alternative splicing results
            in multiple transcript variants encoding different isoforms.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB210019.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..512
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..512
                     /product="CUGBP Elav-like family member 1 isoform 4"
                     /note="CUG RNA-binding protein; embryo deadenylation
                     element binding protein; nuclear polyadenylated
                     RNA-binding protein, 50-kD; bruno-like 2; CUG-BP- and
                     ETR-3-like factor 1; EDEN-BP homolog; bruno-like protein
                     2; deadenylation factor CUG-BP; RNA-binding protein
                     BRUNOL-2; CUG triplet repeat RNA-binding protein 1; 50 kDa
                     nuclear polyadenylated RNA-binding protein; embryo
                     deadenylation element-binding protein homolog"
                     /calculated_mol_wt=54870
     Region          42..125
                     /region_name="RRM1_CELF1_2_Bruno"
                     /note="RNA recognition motif 1 (RRM1) found in CUGBP
                     Elav-like family member CELF-1, CELF-2, Drosophila
                     melanogaster Bruno protein and similar proteins; cd12631"
                     /db_xref="CDD:410040"
     Site            order(46,48..49,52,73..76,78..79,86..88,90,120,122,
                     124..125)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410040"
     Region          133..213
                     /region_name="RRM2_CELF1_2"
                     /note="RNA recognition motif 2 (RRM2) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12634"
                     /db_xref="CDD:410042"
     Site            order(135,137,139..140,143,162,164,166,174..176,178,
                     204..205,208,210,212..213)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410042"
     Region          420..511
                     /region_name="RRM3_CELF1_2"
                     /note="RNA recognition motif 3 (RRM3) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12638"
                     /db_xref="CDD:241082"
     CDS             1..512
                     /gene="CELF1"
                     /gene_synonym="BRUNOL2; CUG-BP; CUGBP; CUGBP1; EDEN-BP;
                     hNab50; NAB50; NAPOR"
                     /coded_by="NM_001172639.2:738..2276"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS53623.1"
                     /db_xref="GeneID:10658"
                     /db_xref="HGNC:HGNC:2549"
                     /db_xref="MIM:601074"
ORIGIN      
        1 maafkldflp emmvdhcsln sspvskkmng tldhpdqpdl daikmfvgqv prtwsekdlr
       61 elfeqygavy einvlrdrsq nppqskgccf vtfytrkaal eaqnalhnmk vlpgmhhpiq
      121 mkpadseknn vedrklfigm iskkctendi rvmfssfgqi eecrilrgpd glsrgcafvt
      181 fttramaqta ikamhqaqtm egcsspmvvk fadtqkdkeq krmaqqlqqq mqqisaasvw
      241 gnlaglntlg pqylalylql lqqtassgnl ntlsslhpmg glnamqlqnl aalaaaasaa
      301 qntpsgtnal ttsssplsvl tssgsspsss ssnsvnpias lgalqtlaga taglnvgsla
      361 gmaalngglg ssglsngtgs tmealtqays giqqyaaaal ptlynqnllt qqsigaagsq
      421 kegpeganlf iyhlpqefgd qdllqmfmpf gnvvsakvfi dkqtnlskcf gfvsydnpvs
      481 aqaaiqsmng fqigmkrlkv qlkrskndsk py
//
LOCUS       NP_001317230            1057 aa            linear   PRI 27-DEC-2022
DEFINITION  histone deacetylase complex subunit SAP130 isoform e [Homo
            sapiens].
ACCESSION   NP_001317230 XP_005263825
VERSION     NP_001317230.1
DBSOURCE    REFSEQ: accession NM_001330301.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1057)
  AUTHORS   Metselaar PI, Hos C, Welting O, Bosch JA, Kraneveld AD, de Jonge WJ
            and Te Velde AA.
  TITLE     Ambiguity about Splicing Factor 3b Subunit 3 (SF3B3) and Sin3A
            Associated Protein 130 (SAP130)
  JOURNAL   Cells 10 (3), 590 (2021)
   PUBMED   33800128
  REMARK    GeneRIF: Ambiguity about Splicing Factor 3b Subunit 3 (SF3B3) and
            Sin3A Associated Protein 130 (SAP130).
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1057)
  AUTHORS   Streubel G, Fitzpatrick DJ, Oliviero G, Scelfo A, Moran B, Das S,
            Munawar N, Watson A, Wynne K, Negri GL, Dillon ET, Jammula S,
            Hokamp K, O'Connor DP, Pasini D, Cagney G and Bracken AP.
  TITLE     Fam60a defines a variant Sin3a-Hdac complex in embryonic stem cells
            required for self-renewal
  JOURNAL   EMBO J 36 (15), 2216-2232 (2017)
   PUBMED   28554894
REFERENCE   3  (residues 1 to 1057)
  AUTHORS   Smith KT, Sardiu ME, Martin-Brown SA, Seidel C, Mushegian A, Egidy
            R, Florens L, Washburn MP and Workman JL.
  TITLE     Human family with sequence similarity 60 member A (FAM60A) protein:
            a new subunit of the Sin3 deacetylase complex
  JOURNAL   Mol Cell Proteomics 11 (12), 1815-1828 (2012)
   PUBMED   22984288
REFERENCE   4  (residues 1 to 1057)
  AUTHORS   Munoz IM, MacArtney T, Sanchez-Pulido L, Ponting CP, Rocha S and
            Rouse J.
  TITLE     Family with sequence similarity 60A (FAM60A) protein is a cell
            cycle-fluctuating regulator of the SIN3-HDAC1 histone deacetylase
            complex
  JOURNAL   J Biol Chem 287 (39), 32346-32353 (2012)
   PUBMED   22865885
REFERENCE   5  (residues 1 to 1057)
  AUTHORS   Icardi L, Mori R, Gesellchen V, Eyckerman S, De Cauwer L, Verhelst
            J, Vercauteren K, Saelens X, Meuleman P, Leroux-Roels G, De
            Bosscher K, Boutros M and Tavernier J.
  TITLE     The Sin3a repressor complex is a master regulator of STAT
            transcriptional activity
  JOURNAL   Proc Natl Acad Sci U S A 109 (30), 12058-12063 (2012)
   PUBMED   22783022
REFERENCE   6  (residues 1 to 1057)
  AUTHORS   Truty MJ, Lomberk G, Fernandez-Zapico ME and Urrutia R.
  TITLE     Silencing of the transforming growth factor-beta (TGFbeta) receptor
            II by Kruppel-like factor 14 underscores the importance of a
            negative feedback mechanism in TGFbeta signaling
  JOURNAL   J Biol Chem 284 (10), 6291-6300 (2009)
   PUBMED   19088080
  REMARK    GeneRIF: the TGFbeta pathway activation leads to recruitment of a
            KLF14-mSin3A-HDAC2 repressor complex to the TGFbetaRII promoter, as
            well as the remodeling of chromatin to increase histone marks that
            associate with transcriptional silencing.
REFERENCE   7  (residues 1 to 1057)
  AUTHORS   Fleischer TC, Yun UJ and Ayer DE.
  TITLE     Identification and characterization of three new components of the
            mSin3A corepressor complex
  JOURNAL   Mol Cell Biol 23 (10), 3456-3467 (2003)
   PUBMED   12724404
REFERENCE   8  (residues 1 to 1057)
  AUTHORS   Martinez E, Palhan VB, Tjernberg A, Lymar ES, Gamper AM, Kundu TK,
            Chait BT and Roeder RG.
  TITLE     Human STAGA complex is a chromatin-acetylating transcription
            coactivator that interacts with pre-mRNA splicing and DNA
            damage-binding factors in vivo
  JOURNAL   Mol Cell Biol 21 (20), 6782-6795 (2001)
   PUBMED   11564863
REFERENCE   9  (residues 1 to 1057)
  AUTHORS   Zhang Y, Sun ZW, Iratni R, Erdjument-Bromage H, Tempst P, Hampsey M
            and Reinberg D.
  TITLE     SAP30, a novel protein conserved between human and yeast, is a
            component of a histone deacetylase complex
  JOURNAL   Mol Cell 1 (7), 1021-1031 (1998)
   PUBMED   9651585
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC118060.4 and AC012306.11.
            On Aug 23, 2016 this sequence version replaced XP_005263825.1.
            
            Summary: SAP130 is a subunit of the histone deacetylase (see HDAC1;
            MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex
            (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar
            2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853558.14633.1,
                                           SRR11853561.16732.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000643581.2/ ENSP00000494423.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1057
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.3"
     Protein         1..1057
                     /product="histone deacetylase complex subunit SAP130
                     isoform e"
                     /EC_number="3.2.1.3"
                     /note="histone deacetylase complex subunit SAP130;
                     Sin3-associated polypeptide p130; 130 kDa Sin3-associated
                     polypeptide; Sin3A associated protein 130kDa"
                     /calculated_mol_wt=111227
     Region          <19..339
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <250..657
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     Region          635..1040
                     /region_name="SAP130_C"
                     /note="Histone deacetylase complex subunit SAP130
                     C-terminus; pfam16014"
                     /db_xref="CDD:435070"
     CDS             1..1057
                     /gene="SAP130"
                     /coded_by="NM_001330301.2:127..3300"
                     /note="isoform e is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS86881.1"
                     /db_xref="GeneID:79595"
                     /db_xref="HGNC:HGNC:29813"
                     /db_xref="MIM:609697"
ORIGIN      
        1 mssqqfprlg apstglsqap sqiansgsag linpaatvnd esgrdsevsa rehmsssssl
       61 qsreekqepv vvrpypqvqm lsthhavasa tpvavtappa hltpavplsf seglmkpppk
      121 ptmpsrpiap appstlslpp kvpgqvtvtm essipqasai pvatisgqqg hpsnlhhimt
      181 tnvqmsiirs napgpplhig ashlprgaaa aavmssskvt tvlrptsqlp naataqpavq
      241 hiihqpiqsr ppvttsnaip pavvatvsat raqspvittt aahatdsals rptlsiqhpp
      301 saaisiqrpa qsrdvttrit lpshpalgtp kqqlhtmaqk tifstgtpva aatvapilat
      361 ntipsattag svshtqapts tivtmtvpsh sshatavtts nipvakvvpq qithtspriq
      421 pdypaerssl ipisghrasp npvametrsd nrpsvpvqfq yflptyppsa yplaahtytp
      481 itssvstirq ypvsaqapns aitaqtgvgv astvhlnpmq lmtvdashar hiqgiqpapi
      541 stqgiqpapi gtpgiqpapl gtqgihsatp intqglqpap mgtqqpqpeg ktsavvladg
      601 ativanpisn pfsaapaatt vvqthsqsas tnapaqgssp rpsilrkkpa tdgmavrktl
      661 ippqppdvas prvessmrst sgsprpagak pkseihvsma tpvtvsmetv snqnndqpti
      721 avpptaqqpp ptiptmiaaa sppsqpaval stipgavpit ppittiaaap ppsvtvggsl
      781 ssvlgppvpe ikvkeevepm dimrpvsavp platntvsps lallannlsm ptsdlppgas
      841 prkkprkqqh visteegdmm etnstddeks taksllvkae krksppkeyi deegvryvpv
      901 rprppitllr hyrnpwkaay hhfqrysdvr vkeekkamlq eianqkgvsc raqgwkvhlc
      961 aaqllqltnl ehdvyerltn lqegiipkkk aatdddlhri neliqgnmqr cklvmdqise
     1021 ardsmlkvld hkdrvlklln kngtvkkvsk lkrkekv
//
LOCUS       NP_001358320             176 aa            linear   PRI 28-DEC-2022
DEFINITION  C-type lectin domain family 4 member C isoform 3 [Homo sapiens].
ACCESSION   NP_001358320
VERSION     NP_001358320.1
DBSOURCE    REFSEQ: accession NM_001371391.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 176)
  AUTHORS   Zhong Q, Lu Y, Xu W, Rong Z, Chang X, Qin L, Chen X and Zhou F.
  TITLE     The differentiation of new human CD303+ Plasmacytoid dendritic cell
            subpopulations expressing CD205 and/or CD103 regulated by
            Non-Small-Cell lung cancer cells
  JOURNAL   Int Immunopharmacol 99, 107983 (2021)
   PUBMED   34298400
  REMARK    GeneRIF: The differentiation of new human CD303(+) Plasmacytoid
            dendritic cell subpopulations expressing CD205 and/or CD103
            regulated by Non-Small-Cell lung cancer cells.
REFERENCE   2  (residues 1 to 176)
  AUTHORS   Bos S, Poirier-Beaudouin B, Seffer V, Manich M, Mardi C, Despres P,
            Gadea G and Gougeon ML.
  TITLE     Zika Virus Inhibits IFN-alpha Response by Human Plasmacytoid
            Dendritic Cells and Induces NS1-Dependent Triggering of CD303
            (BDCA-2) Signaling
  JOURNAL   Front Immunol 11, 582061 (2020)
   PUBMED   33193389
  REMARK    GeneRIF: Zika Virus Inhibits IFN-alpha Response by Human
            Plasmacytoid Dendritic Cells and Induces NS1-Dependent Triggering
            of CD303 (BDCA-2) Signaling.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 176)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 176)
  AUTHORS   Chen YL, Gomes T, Hardman CS, Vieira Braga FA, Gutowska-Owsiak D,
            Salimi M, Gray N, Duncan DA, Reynolds G, Johnson D, Salio M,
            Cerundolo V, Barlow JL, McKenzie ANJ, Teichmann SA, Haniffa M and
            Ogg G.
  TITLE     Re-evaluation of human BDCA-2+ DC during acute sterile skin
            inflammation
  JOURNAL   J Exp Med 217 (3) (2020)
   PUBMED   31845972
  REMARK    GeneRIF: Re-evaluation of human BDCA-2+ DC during acute sterile
            skin inflammation.
REFERENCE   5  (residues 1 to 176)
  AUTHORS   Gardet A, Pellerin A, McCarl CA, Diwanji R, Wang W, Donaldson D,
            Franchimont N, Werth VP and Rabah D.
  TITLE     Effect of in vivo Hydroxychloroquine and ex vivo Anti-BDCA2 mAb
            Treatment on pDC IFNalpha Production From Patients Affected With
            Cutaneous Lupus Erythematosus
  JOURNAL   Front Immunol 10, 275 (2019)
   PUBMED   30846987
  REMARK    GeneRIF: 24F4A (BIIB059) is an antibody targeting BDCA2.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 176)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   7  (residues 1 to 176)
  AUTHORS   Dzionek A, Sohma Y, Nagafune J, Cella M, Colonna M, Facchetti F,
            Gunther G, Johnston I, Lanzavecchia A, Nagasaka T, Okada T, Vermi
            W, Winkels G, Yamamoto T, Zysk M, Yamaguchi Y and Schmitz J.
  TITLE     BDCA-2, a novel plasmacytoid dendritic cell-specific type II C-type
            lectin, mediates antigen capture and is a potent inhibitor of
            interferon alpha/beta induction
  JOURNAL   J Exp Med 194 (12), 1823-1834 (2001)
   PUBMED   11748283
REFERENCE   8  (residues 1 to 176)
  AUTHORS   Arce I, Roda-Navarro P, Montoya MC, Hernanz-Falcon P, Puig-Kroger A
            and Fernandez-Ruiz E.
  TITLE     Molecular and genomic characterization of human DLEC, a novel
            member of the C-type lectin receptor gene family preferentially
            expressed on monocyte-derived dendritic cells
  JOURNAL   Eur J Immunol 31 (9), 2733-2740 (2001)
   PUBMED   11536172
REFERENCE   9  (residues 1 to 176)
  AUTHORS   Dzionek A, Fuchs A, Schmidt P, Cremer S, Zysk M, Miltenyi S, Buck
            DW and Schmitz J.
  TITLE     BDCA-2, BDCA-3, and BDCA-4: three markers for distinct subsets of
            dendritic cells in human peripheral blood
  JOURNAL   J Immunol 165 (11), 6037-6046 (2000)
   PUBMED   11086035
REFERENCE   10 (residues 1 to 176)
  AUTHORS   Fernandes MJ, Iscove NN, Gingras G and Calabretta B.
  TITLE     Identification and characterization of the gene for a novel C-type
            lectin (CLECSF7) that maps near the natural killer gene complex on
            human chromosome 12
  JOURNAL   Genomics 69 (2), 263-270 (2000)
   PUBMED   11031109
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006517.46.
            
            Summary: This gene encodes a member of the C-type lectin/C-type
            lectin-like domain (CTL/CTLD) superfamily. Members of this family
            share a common protein fold and have diverse functions, such as
            cell adhesion, cell-cell signalling, glycoprotein turnover, and
            roles in inflammation and immune response. The encoded type 2
            transmembrane protein may play a role in dendritic cell function.
            Two transcript variants encoding distinct isoforms have been
            identified for this gene. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.23811.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144335, SAMEA2152719
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..176
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     Protein         1..176
                     /product="C-type lectin domain family 4 member C isoform
                     3"
                     /note="C-type (calcium dependent, carbohydrate-recognition
                     domain) lectin, superfamily member 11; C-type (calcium
                     dependent, carbohydrate-recognition domain) lectin,
                     superfamily member 7; blood dendritic cell antigen 2
                     protein; dendritic cell lectin b; dendritic lectin; C-type
                     lectin superfamily member 7"
                     /calculated_mol_wt=20467
     Region          46..171
                     /region_name="CLECT_DC-SIGN_like"
                     /note="C-type lectin-like domain (CTLD) of the type found
                     in human dendritic cell (DC)-specific intercellular
                     adhesion molecule 3-grabbing non-integrin (DC-SIGN) and
                     the related receptor, DC-SIGN receptor (DC-SIGNR);
                     cd03590"
                     /db_xref="CDD:153060"
     Site            order(102,135,137,141,147..148,157..160)
                     /site_type="other"
                     /note="carbohydrate binding site"
                     /db_xref="CDD:153060"
     Site            order(109,113,138,141..142)
                     /site_type="other"
                     /note="calcium binding site 1 [ion binding]"
                     /db_xref="CDD:153060"
     Site            order(113,142)
                     /site_type="other"
                     /note="calcium binding site 3 [ion binding]"
                     /db_xref="CDD:153060"
     CDS             1..176
                     /gene="CLEC4C"
                     /gene_synonym="BDCA-2; BDCA2; CD303; CLECSF11; CLECSF7;
                     DLEC; HECL; PRO34150"
                     /coded_by="NM_001371391.1:560..1090"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="GeneID:170482"
                     /db_xref="HGNC:HGNC:13258"
                     /db_xref="MIM:606677"
ORIGIN      
        1 mvpeeepqdr ekglwwfqlk vwsmavvsil llsvcftvss vdwsccptpw tsfqsscyfi
       61 stgmqswtks qkncsvmgad lvvintreeq dfiiqnlkrn ssyflglsdp ggrrhwqwvd
      121 qtpynenvtf whsgepnnld ercaiinfrs seewgwndih chvpqksick mkkiyi
//
LOCUS       NP_001365463             869 aa            linear   PRI 28-DEC-2022
DEFINITION  V-type proton ATPase 116 kDa subunit a 1 isoform 10 [Homo sapiens].
ACCESSION   NP_001365463
VERSION     NP_001365463.1
DBSOURCE    REFSEQ: accession NM_001378534.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 869)
  AUTHORS   Yamazaki Y, Eura Y and Kokame K.
  TITLE     V-ATPase V0a1 promotes Weibel-Palade body biogenesis through the
            regulation of membrane fission
  JOURNAL   Elife 10, e71526 (2021)
   PUBMED   34904569
  REMARK    GeneRIF: V-ATPase V0a1 promotes Weibel-Palade body biogenesis
            through the regulation of membrane fission.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 869)
  AUTHORS   Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama
            J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R,
            Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A,
            Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N and Saitsu
            H.
  TITLE     ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar
            H+-ATPases is essential for brain development in humans and mice
  JOURNAL   Nat Commun 12 (1), 2107 (2021)
   PUBMED   33833240
  REMARK    GeneRIF: ATP6V0A1 encoding the a1-subunit of the V0 domain of
            vacuolar H(+)-ATPases is essential for brain development in humans
            and mice.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 869)
  AUTHORS   Wang L, Wu D, Robinson CV, Wu H and Fu TM.
  TITLE     Structures of a Complete Human V-ATPase Reveal Mechanisms of Its
            Assembly
  JOURNAL   Mol Cell 80 (3), 501-511 (2020)
   PUBMED   33065002
REFERENCE   4  (residues 1 to 869)
  AUTHORS   Vasanthakumar T and Rubinstein JL.
  TITLE     Structure and Roles of V-type ATPases
  JOURNAL   Trends Biochem Sci 45 (4), 295-307 (2020)
   PUBMED   32001091
  REMARK    Review article
REFERENCE   5  (residues 1 to 869)
  AUTHORS   Brisson L, Banski P, Sboarina M, Dethier C, Danhier P, Fontenille
            MJ, Van Hee VF, Vazeille T, Tardy M, Falces J, Bouzin C, Porporato
            PE, Frederick R, Michiels C, Copetti T and Sonveaux P.
  TITLE     Lactate Dehydrogenase B Controls Lysosome Activity and Autophagy in
            Cancer
  JOURNAL   Cancer Cell 30 (3), 418-431 (2016)
   PUBMED   27622334
REFERENCE   6  (residues 1 to 869)
  AUTHORS   Finbow ME and Harrison MA.
  TITLE     The vacuolar H+-ATPase: a universal proton pump of eukaryotes
  JOURNAL   Biochem J 324 (Pt 3) (Pt 3), 697-712 (1997)
   PUBMED   9210392
  REMARK    Review article
REFERENCE   7  (residues 1 to 869)
  AUTHORS   Stevens TH and Forgac M.
  TITLE     Structure, function and regulation of the vacuolar (H+)-ATPase
  JOURNAL   Annu Rev Cell Dev Biol 13, 779-808 (1997)
   PUBMED   9442887
  REMARK    Review article
REFERENCE   8  (residues 1 to 869)
  AUTHORS   Andresson T, Sparkowski J, Goldstein DJ and Schlegel R.
  TITLE     Vacuolar H(+)-ATPase mutants transform cells and define a binding
            site for the papillomavirus E5 oncoprotein
  JOURNAL   J Biol Chem 270 (12), 6830-6837 (1995)
   PUBMED   7896830
REFERENCE   9  (residues 1 to 869)
  AUTHORS   Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G, Ho
            PP, Merajver S, Chandrasekharappa SC, Xu J et al.
  TITLE     Construction of a transcription map surrounding the BRCA1 locus of
            human chromosome 17
  JOURNAL   Genomics 25 (1), 238-247 (1995)
   PUBMED   7774924
REFERENCE   10 (residues 1 to 869)
  AUTHORS   Dautry-Varsat,A.
  TITLE     Receptor-mediated endocytosis: the intracellular journey of
            transferrin and its receptor
  JOURNAL   Biochimie 68 (3), 375-381 (1986)
   PUBMED   2874839
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC107993.9 and AC067852.23.
            
            Summary: This gene encodes a component of vacuolar ATPase
            (V-ATPase), a multisubunit enzyme that mediates acidification of
            eukaryotic intracellular organelles. V-ATPase dependent organelle
            acidification is necessary for such intracellular processes as
            protein sorting, zymogen activation, receptor-mediated endocytosis,
            and synaptic vesicle proton gradient generation. V-ATPase is
            composed of a cytosolic V1 domain and a transmembrane V0 domain.
            The V1 domain consists of three A and three B subunits, two G
            subunits plus the C, D, E, F, and H subunits. The V1 domain
            contains the ATP catalytic site. The V0 domain consists of five
            different subunits: a, c, c', c', and d. Additional isoforms of
            many of the V1 and V0 subunit proteins are encoded by multiple
            genes or alternatively spliced transcript variants. This gene
            encodes one of three A subunit proteins and the encoded protein is
            associated with clathrin-coated vesicles. Three transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2145544,
                              SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..869
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     Protein         1..869
                     /product="V-type proton ATPase 116 kDa subunit a 1 isoform
                     10"
                     /EC_number="7.1.2.2"
                     /note="clathrin-coated vesicle/synaptic vesicle proton
                     pump 116 kDa subunit; vacuolar proton translocating ATPase
                     116 kDa subunit A; H(+)-transporting two-sector ATPase,
                     116 kDa accessory protein A1; V-ATPase 116 kDa subunit a1;
                     V-ATPase subunit a1; ATPase, H+ transporting, lysosomal
                     non-catalytic accessory protein 1 (110/116kD);
                     vacuolar-type H(+)-ATPase 115 kDa subunit; V-type proton
                     ATPase 116 kDa subunit a; vacuolar proton pump subunit 1;
                     vacuolar adenosine triphosphatase subunit Ac116; ATPase,
                     H+ transporting, lysosomal V0 subunit a1; V-type proton
                     ATPase 116 kDa subunit a1; V-ATPase 116 kDa subunit a 1;
                     V-type proton ATPase 116 kDa subunit a 1"
                     /calculated_mol_wt=99528
     Region          28..859
                     /region_name="V_ATPase_I"
                     /note="V-type ATPase 116kDa subunit family; pfam01496"
                     /db_xref="CDD:426290"
     CDS             1..869
                     /gene="ATP6V0A1"
                     /gene_synonym="a1; ATP6N1; ATP6N1A; DEE104; NEDEBA; Stv1;
                     Vph1; VPP1"
                     /coded_by="NM_001378534.1:134..2743"
                     /note="isoform 10 is encoded by transcript variant 10"
                     /db_xref="GeneID:535"
                     /db_xref="HGNC:HGNC:865"
                     /db_xref="MIM:192130"
ORIGIN      
        1 mgelfrseem tlaqlflqse aayccvselg elgkvqfrdl npdvnvfqrk fvnevrrcee
       61 mdrklrfvek eirkanipim dtgenpevpf prdmidlean fekienelke intnqealkr
      121 nfleltelkf ilrktqqffd eaelhhqqma dpdlleesss llepsemgrg tplrlgfvag
      181 vinreriptf ermlwrvcrg nvflrqaeie npledpvtgd yvhksvfiif fqgdqlknrv
      241 kkicegfras lypcpetpqe rkemasgvnt riddlqmvln qtedhrqrvl qaaaknirvw
      301 fikvrkmkai yhtlnlcnid vtqkcliaev wcpvtdldsi qfalrrgteh sgstvpsiln
      361 rmqtnqtppt ynktnkftyg fqnivdaygi gtyreinpap ytiitfpflf avmfgdfghg
      421 ilmtlfavwm vlresrilsq knenemfstv fsgryiillm gvfsmytgli yndcfsksln
      481 ifgsswsvrp mftynwteet lrgnpvlqln palpgvfggp ypfgidpiwn iatnkltfln
      541 sfkmkmsvil giihmlfgvs lslfnhiyfk kplniyfgfi peiifmtslf gylvilifyk
      601 wtaydahtse napsllihfi nmflfsypes gysmlysgqk giqcflvvva llcvpwmllf
      661 kplvlrrqyl rrkhlegqpv eapvspnpsq qgleaaaaat gtlnfggirv gngpteedae
      721 iiqhdqlsth sedadepsed evfdfgdtmv hqaihtieyc lgcisntasy lrlwalslah
      781 aqlsevlwtm vihiglsvks lagglvlfff ftafatltva illimeglsa flhalrlhwv
      841 efqnkfysgt gfkflpfsfe hiregkfee
//
LOCUS       NP_001372162             578 aa            linear   PRI 28-DEC-2022
DEFINITION  myotubularin-related protein 6 isoform 5 [Homo sapiens].
ACCESSION   NP_001372162
VERSION     NP_001372162.1
DBSOURCE    REFSEQ: accession NM_001385233.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 578)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 578)
  AUTHORS   Wang Y, Lei X, Gao C, Xue Y, Li X, Wang H and Feng Y.
  TITLE     MiR-506-3p suppresses the proliferation of ovarian cancer cells by
            negatively regulating the expression of MTMR6
  JOURNAL   J Biosci 44 (6) (2019)
   PUBMED   31894107
  REMARK    GeneRIF: rescue experiments using MTMR6 overexpression further
            verified that MTMR6 was a functional target of miR-506-3p. Our data
            indicate that miR-506-3p might serve as a tumor suppressor gene and
            propose a new regulatory mechanism of MTMR6 by miR-506-3p in
            ovarian cancer .
REFERENCE   3  (residues 1 to 578)
  AUTHORS   St-Denis N, Gupta GD, Lin ZY, Gonzalez-Badillo B, Veri AO, Knight
            JDR, Rajendran D, Couzens AL, Currie KW, Tkach JM, Cheung SWT,
            Pelletier L and Gingras AC.
  TITLE     Phenotypic and Interaction Profiling of the Human Phosphatases
            Identifies Diverse Mitotic Regulators
  JOURNAL   Cell Rep 17 (9), 2488-2501 (2016)
   PUBMED   27880917
REFERENCE   4  (residues 1 to 578)
  AUTHORS   Maekawa M, Terasaka S, Mochizuki Y, Kawai K, Ikeda Y, Araki N,
            Skolnik EY, Taguchi T and Arai H.
  TITLE     Sequential breakdown of 3-phosphorylated phosphoinositides is
            essential for the completion of macropinocytosis
  JOURNAL   Proc Natl Acad Sci U S A 111 (11), E978-E987 (2014)
   PUBMED   24591580
  REMARK    GeneRIF: MTMR6, which dephosphorylates PI(3)P to PI, and its
            binding partner MTMR9, are required for macropinocytosis.
REFERENCE   5  (residues 1 to 578)
  AUTHORS   Mochizuki Y, Ohashi R, Kawamura T, Iwanari H, Kodama T, Naito M and
            Hamakubo T.
  TITLE     Phosphatidylinositol 3-phosphatase myotubularin-related protein 6
            (MTMR6) is regulated by small GTPase Rab1B in the early secretory
            and autophagic pathways
  JOURNAL   J Biol Chem 288 (2), 1009-1021 (2013)
   PUBMED   23188820
  REMARK    GeneRIF: results indicate that the cellular localization of MTMR6
            is regulated by Rab1B in the early secretory and autophagic
            pathways
REFERENCE   6  (residues 1 to 578)
  AUTHORS   Mochizuki Y and Majerus PW.
  TITLE     Characterization of myotubularin-related protein 7 and its binding
            partner, myotubularin-related protein 9
  JOURNAL   Proc Natl Acad Sci U S A 100 (17), 9768-9773 (2003)
   PUBMED   12890864
REFERENCE   7  (residues 1 to 578)
  AUTHORS   Nandurkar HH, Layton M, Laporte J, Selan C, Corcoran L, Caldwell
            KK, Mochizuki Y, Majerus PW and Mitchell CA.
  TITLE     Identification of myotubularin as the lipid phosphatase catalytic
            subunit associated with the 3-phosphatase adapter protein, 3-PAP
  JOURNAL   Proc Natl Acad Sci U S A 100 (15), 8660-8665 (2003)
   PUBMED   12847286
  REMARK    GeneRIF: Identification of myotubularin as the lipid phosphatase
            catalytic subunit associated with the 3-phosphatase adapter
            protein, 3-PAP.
REFERENCE   8  (residues 1 to 578)
  AUTHORS   Schaletzky J, Dove SK, Short B, Lorenzo O, Clague MJ and Barr FA.
  TITLE     Phosphatidylinositol-5-phosphate activation and conserved substrate
            specificity of the myotubularin phosphatidylinositol 3-phosphatases
  JOURNAL   Curr Biol 13 (6), 504-509 (2003)
   PUBMED   12646134
  REMARK    GeneRIF: investigation of MTM1 and MTMR6 and finding that they use
            PtdIns(3,5)P2 in addition to PtdIns3P as a substrate in vitro
REFERENCE   9  (residues 1 to 578)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (residues 1 to 578)
  AUTHORS   Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N and
            Mandel JL.
  TITLE     Characterization of the myotubularin dual specificity phosphatase
            gene family from yeast to human
  JOURNAL   Hum Mol Genet 7 (11), 1703-1712 (1998)
   PUBMED   9736772
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590787.24.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.3047590.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..578
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.13"
     Protein         1..578
                     /product="myotubularin-related protein 6 isoform 5"
                     /EC_number="3.1.3.64"
                     /EC_number="3.1.3.95"
                     /note="phosphatidylinositol-3-phosphate phosphatase;
                     phosphatidylinositol-3,5-bisphosphate 3-phosphatase"
                     /calculated_mol_wt=66795
     Region          1..101
                     /region_name="PH-GRAM_MTMR6"
                     /note="Myotubularian (MTM) related (MTMR) 6 protein
                     Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase
                     activators and Myotubularins (PH-GRAM) domain; cd13343"
                     /db_xref="CDD:270151"
     Region          130..388
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     Site            order(293..294,297..299)
                     /site_type="active"
                     /db_xref="CDD:350344"
     CDS             1..578
                     /gene="MTMR6"
                     /coded_by="NM_001385233.1:242..1978"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:9107"
                     /db_xref="HGNC:HGNC:7453"
                     /db_xref="MIM:603561"
ORIGIN      
        1 mehirttkve qvklldrfst snksltgtly ltathllfid shqketwilh hhiasvekla
       61 lttsgcplvi qcknfrtvhf ivprerdchd iynsllqlsk qakyedlyaf synpkqndse
      121 rlqgwqlidl aeeykrmgvp nshwqlsdan rdykaaicrc sqplsgfsar cledehllqa
      181 iskanpvnry myvmdtrpkl namanraagk gyenednysn irfqfvgien ihvmrsslqk
      241 llevngtkgl svndfysgle ssgwlrhika vmdaaiflak aitvenasvl vhcsdgwdrt
      301 sqvcslgsll ldsyyrtikg fmvliekdwi sfghkfserc gqldgdpkev spvftqflec
      361 vwhlteqfpq afefseafll qihehihscq fgnflgncqk ereelklkek tyslwpflle
      421 dqkkylnply sseshrftvl epntvsfnfk fwrnmyhqfd rtlhprqsvf niimnmneqn
      481 kqlekdikdl eskikqrknk qtdgiltkel lhsvhpespn lktslcfkeq tllpvndalr
      541 tiegsspadn ryseyaeefs ksepavvsle ygvarmtc
//
LOCUS       NP_001128251            1015 aa            linear   PRI 29-DEC-2022
DEFINITION  importin-11 isoform 1 [Homo sapiens].
ACCESSION   NP_001128251
VERSION     NP_001128251.1
DBSOURCE    REFSEQ: accession NM_001134779.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1015)
  AUTHORS   Gu Y, Wang Y, He L, Zhang J, Zhu X, Liu N, Wang J, Lu T, He L, Tian
            Y and Fan Z.
  TITLE     Circular RNA circIPO11 drives self-renewal of liver cancer
            initiating cells via Hedgehog signaling
  JOURNAL   Mol Cancer 20 (1), 132 (2021)
   PUBMED   34649567
  REMARK    GeneRIF: Circular RNA circIPO11 drives self-renewal of liver cancer
            initiating cells via Hedgehog signaling.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1015)
  AUTHORS   Ni H, Ji D, Li J, Zhao Z and Zuo J.
  TITLE     The nuclear transporter importin-11 regulates the Wnt/beta-catenin
            pathway and acts as a tumor promoter in glioma
  JOURNAL   Int J Biol Macromol 176, 145-156 (2021)
   PUBMED   33571591
  REMARK    GeneRIF: The nuclear transporter importin-11 regulates the
            Wnt/beta-catenin pathway and acts as a tumor promoter in glioma.
REFERENCE   3  (residues 1 to 1015)
  AUTHORS   Mis M, O'Brien S, Steinhart Z, Lin S, Hart T, Moffat J and Angers
            S.
  TITLE     IPO11 mediates betacatenin nuclear import in a subset of colorectal
            cancers
  JOURNAL   J Cell Biol 219 (2) (2020)
   PUBMED   31881079
  REMARK    GeneRIF: IPO11 mediates betacatenin nuclear import in a subset of
            colorectal cancers.
REFERENCE   4  (residues 1 to 1015)
  AUTHORS   Zhao J, Shi L, Zeng S, Ma C, Xu W, Zhang Z, Liu Q, Zhang P, Sun Y
            and Xu C.
  TITLE     Importin-11 overexpression promotes the migration, invasion, and
            progression of bladder cancer associated with the deregulation of
            CDKN1A and THBS1
  JOURNAL   Urol Oncol 36 (6), 311 (2018)
   PUBMED   29602637
  REMARK    GeneRIF: High IPO11 expression is associated with migration,
            invasion, and progression of bladder cancer.
REFERENCE   5  (residues 1 to 1015)
  AUTHORS   .
  TITLE     Protecting PTEN in the Nucleus
  JOURNAL   Cancer Discov 7 (4), OF1 (2017)
   PUBMED   28258103
  REMARK    GeneRIF: IPO11 provides protection in another way, the researchers
            found. The transport receptor also shuttles UBE2E1, an enzyme
            necessary for PTEN ubiquitination, into the nucleus. Thanks to
            IPO11, normal cells keep all of their UBE2E1 in the nucleus,
            allowing PTEN to continue functioning in the cytoplasm. In cells
            lacking IPO11, UBE2E1 remains in the cytoplasm and promotes the
            destruction of PTEN.
REFERENCE   6  (residues 1 to 1015)
  AUTHORS   Plafker KS and Plafker SM.
  TITLE     The ubiquitin-conjugating enzyme UBE2E3 and its import receptor
            importin-11 regulate the localization and activity of the
            antioxidant transcription factor NRF2
  JOURNAL   Mol Biol Cell 26 (2), 327-338 (2015)
   PUBMED   25378586
  REMARK    GeneRIF: Data indicate that ubiquitin-conjugating enzyme UBE2E3 and
            importin 11 (Imp-11)promote the nuclear accumulation and activity
            of transcription factor NF-E2 (Nrf2) by restricting the
            transcription factor from partitioning to the mitochondria
REFERENCE   7  (residues 1 to 1015)
  AUTHORS   Zuo L, Zhang XY, Wang F, Li CS, Lu L, Ye L, Zhang H, Krystal JH,
            Deng HW and Luo X.
  TITLE     Genome-wide significant association signals in IPO11-HTR1A region
            specific for alcohol and nicotine codependence
  JOURNAL   Alcohol Clin Exp Res 37 (5), 730-739 (2013)
   PUBMED   23216389
REFERENCE   8  (residues 1 to 1015)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   9  (residues 1 to 1015)
  AUTHORS   Plafker SM and Macara IG.
  TITLE     Ribosomal protein L12 uses a distinct nuclear import pathway
            mediated by importin 11
  JOURNAL   Mol Cell Biol 22 (4), 1266-1275 (2002)
   PUBMED   11809816
REFERENCE   10 (residues 1 to 1015)
  AUTHORS   Plafker SM and Macara IG.
  TITLE     Importin-11, a nuclear import receptor for the
            ubiquitin-conjugating enzyme, UbcM2
  JOURNAL   EMBO J 19 (20), 5502-5513 (2000)
   PUBMED   11032817
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK302781.1, AF111109.1, BC033776.1 and BM966917.1.
            
            Summary: Importins, including IPO11, are a members of the
            karyopherin/importin-beta family of transport receptors (see KPNB1;
            602738) that mediate nucleocytoplasmic transport of protein and RNA
            cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by
            OMIM, Sep 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302781.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1015
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q12.1"
     Protein         1..1015
                     /product="importin-11 isoform 1"
                     /note="Ran binding protein 11; imp11; ran-binding protein
                     11"
                     /calculated_mol_wt=116877
     Region          50..1012
                     /region_name="CSE1"
                     /note="CAS/CSE protein involved in chromosome segregation
                     [Cell division and chromosome partitioning]; COG5657"
                     /db_xref="CDD:227944"
     Region          466..499
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(491..492,495,498..499,534..535,538,541..542,545,
                     573..574,577,580..581,584,618..619,622,625..626,661..662,
                     665,668..669)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          518..545
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          555..585
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          592..626
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          639..670
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     CDS             1..1015
                     /gene="IPO11"
                     /gene_synonym="RanBP11"
                     /coded_by="NM_001134779.2:131..3178"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS47217.1"
                     /db_xref="GeneID:51194"
                     /db_xref="HGNC:HGNC:20628"
                     /db_xref="MIM:610889"
ORIGIN      
        1 mvqpiihlgy vvysllylgy kpvqhvtaln tvsschkmvs mdlnsastvv lqvltqatsq
       61 dtavlkpaee qlkqwetqpg fysvllnift nhtldinvrw lavlyfkhgi drywrrvaph
      121 alseeekttl raglitnfne pinqiatqia vliakvarld cprqwpelip tliesvkvqd
      181 dlrqhrallt fyhvtktlas krlaadrklf ydlasgiynf acslwnhhtd tflqevssgn
      241 eaailssler tllslkvlrk ltvngfveph knmevmgflh giferlkqfl ecsrsigtdn
      301 vcrdrlekti ilftkvlldf ldqhpfsftp liqrslefsv syvftevgeg vtferfivqc
      361 mnlikmivkn yaykpsknfe dsspetleah kikmafftyp tlteicrrlv shyfllteee
      421 ltmweedpeg ftveetggds wkyslrpcte vlfidifhey nqtltpvlle mmqtlqgptn
      481 vedmnallik davynavgla ayelfdsvdf dqwfknqllp elqvihnryk plrrrviwli
      541 gqwisvkfks dlrpmlyeai cnllqdqdlv vrietattlk ltvddfefrt dqflpyletm
      601 ftllfqllqq vtecdtkmhv lhvlscvier vnmqirpyvg clvqylpllw kqseehnmlr
      661 cailttlihl vqglgadskn lypfllpviq lstdvsqpph vylledglel wlvtlenspc
      721 itpellrifq nmspllelss enlrtcfkii ngyiflsste flqtyavglc qsfcellkei
      781 ttegqvqvlk vvenalkvnp ilgpqmfqpi lpyvfkgiie gerypvvmst ylgvmgrvll
      841 qntsffssll nemahkfnqe mdqllgnmie mwvdrmdnit qperrklsal allsllpsdn
      901 sviqdkfcgi inisveglhd vmtedpetgt ykdcmlmshl eepkvtedee ppteqdkrkk
      961 mlalkdpvht vslqqfiyek lkaqqemlge qgfqslmetv dteivtqlqe flqgf
//
LOCUS       NP_001308161            1140 aa            linear   PRI 29-DEC-2022
DEFINITION  rho GTPase-activating protein 45 isoform 5 [Homo sapiens].
ACCESSION   NP_001308161 XP_011526161
VERSION     NP_001308161.1
DBSOURCE    REFSEQ: accession NM_001321232.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1140)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 1140)
  AUTHORS   Amado-Azevedo J, Reinhard NR, van Bezu J, van Nieuw Amerongen GP,
            van Hinsbergh VWM and Hordijk PL.
  TITLE     The minor histocompatibility antigen 1 (HMHA1)/ArhGAP45 is a RacGAP
            and a novel regulator of endothelial integrity
  JOURNAL   Vascul Pharmacol 101, 38-47 (2018)
   PUBMED   29174013
  REMARK    GeneRIF: ArhGAP45 acts as a Rac-GAP contributing to the balance
            between formation and disruption of endothelial junctions, which is
            required for the dynamic regulation of vascular permeability.
REFERENCE   3  (residues 1 to 1140)
  AUTHORS   Xu P, Ma J, Ma J, Zhang W, Guo S, Jian Z, Liu L, Wang G, Gao T, Zhu
            G and Li C.
  TITLE     Multiple pro-tumorigenic functions of the human minor
            Histocompatibility Antigen-1 (HA-1) in melanoma progression
  JOURNAL   J Dermatol Sci 88 (2), 216-224 (2017)
   PUBMED   28939173
  REMARK    GeneRIF: HMHA1 significantly promotes melanoma cells proliferation,
            invasion and migration, and prevents cell apoptosis.
REFERENCE   4  (residues 1 to 1140)
  AUTHORS   Linscheid C, Heitmann E, Singh P, Wickstrom E, Qiu L, Hodes H,
            Nauser T and Petroff MG.
  TITLE     Trophoblast expression of the minor histocompatibility antigen HA-1
            is regulated by oxygen and is increased in placentas from
            preeclamptic women
  JOURNAL   Placenta 36 (8), 832-838 (2015)
   PUBMED   26095815
  REMARK    GeneRIF: Placental HA-1 expression is regulated by oxygen and is
            increased in the syncytial nuclear aggregates and
            syncytiotrophoblast of preeclamptic as compared to control
            placentas.
REFERENCE   5  (residues 1 to 1140)
  AUTHORS   de Kreuk BJ, Schaefer A, Anthony EC, Tol S, Fernandez-Borja M,
            Geerts D, Pool J, Hambach L, Goulmy E and Hordijk PL.
  TITLE     The human minor histocompatibility antigen 1 is a RhoGAP
  JOURNAL   PLoS One 8 (9), e73962 (2013)
   PUBMED   24086303
  REMARK    GeneRIF: study shows that HMHA1 acts as a RhoGAP to regulate GTPase
            activity, cytoskeletal remodeling and cell spreading, which are
            crucial functions in normal hematopoietic and cancer cells
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1140)
  AUTHORS   Kaminski WE, Piehler A and Schmitz G.
  TITLE     Genomic organization of the human cholesterol-responsive ABC
            transporter ABCA7: tandem linkage with the minor histocompatibility
            antigen HA-1 gene
  JOURNAL   Biochem Biophys Res Commun 278 (3), 782-789 (2000)
   PUBMED   11095984
REFERENCE   7  (residues 1 to 1140)
  AUTHORS   Arostegui JI, Gallardo D, Rodriguez-Luaces M, Querol S, Madrigal
            JA, Garcia-Lopez J and Granena A.
  TITLE     Genomic typing of minor histocompatibility antigen HA-1 by
            reference strand mediated conformation analysis (RSCA)
  JOURNAL   Tissue Antigens 56 (1), 69-76 (2000)
   PUBMED   10958358
REFERENCE   8  (residues 1 to 1140)
  AUTHORS   Wilke M, Pool J, den Haan JM and Goulmy E.
  TITLE     Genomic identification of the minor histocompatibility antigen HA-1
            locus by allele-specific PCR
  JOURNAL   Tissue Antigens 52 (4), 312-317 (1998)
   PUBMED   9820596
REFERENCE   9  (residues 1 to 1140)
  AUTHORS   den Haan JM, Meadows LM, Wang W, Pool J, Blokland E, Bishop TL,
            Reinhardus C, Shabanowitz J, Offringa R, Hunt DF, Engelhard VH and
            Goulmy E.
  TITLE     The minor histocompatibility antigen HA-1: a diallelic gene with a
            single amino acid polymorphism
  JOURNAL   Science 279 (5353), 1054-1057 (1998)
   PUBMED   9461441
REFERENCE   10 (residues 1 to 1140)
  AUTHORS   van Lochem E, van der Keur M, Mommaas AM, de Gast GC and Goulmy E.
  TITLE     Functional expression of minor histocompatibility antigens on human
            peripheral blood dendritic cells and epidermal Langerhans cells
  JOURNAL   Transpl Immunol 4 (2), 151-157 (1996)
   PUBMED   8843592
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB148385.1, BC035564.1 and AC004151.1.
            On Mar 18, 2016 this sequence version replaced XP_011526161.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC035564.1, SRR11853566.13090.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2146236
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1140
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..1140
                     /product="rho GTPase-activating protein 45 isoform 5"
                     /note="minor histocompatibility antigen HA-1; minor
                     histocompatibility protein HA-1; histocompatibility
                     (minor) HA-1"
                     /calculated_mol_wt=124923
     Region          285..360
                     /region_name="FCH"
                     /note="Fes/CIP4 homology domain; smart00055"
                     /db_xref="CDD:214492"
     Site            order(300,302..303,313..314,316..317,320..321,323..324,
                     327,357,360..361,474,477..478,480,483,486..487,488..489,
                     492..493,496..497,499..500,503..504,506..507)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153271"
     Region          705..755
                     /region_name="C1_GMIP-like"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in the GEM-interacting protein (GMIP)-like family;
                     cd20816"
                     /db_xref="CDD:410366"
     Region          763..973
                     /region_name="RhoGAP"
                     /note="GTPase-activator protein (GAP) for Rho-like
                     GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases.
                     Small GTPases (G proteins) cluster into distinct families,
                     and all act as molecular switches, active in their
                     GTP-bound form but inactive when bound to...; cl02570"
                     /db_xref="CDD:445838"
     Site            order(801,838,842,933,936..937,964)
                     /site_type="other"
                     /note="GTPase interaction site"
                     /db_xref="CDD:238090"
     Site            801
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:238090"
     CDS             1..1140
                     /gene="ARHGAP45"
                     /gene_synonym="HA-1; HLA-HA1; HMHA1"
                     /coded_by="NM_001321232.2:76..3498"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS82263.1"
                     /db_xref="GeneID:23526"
                     /db_xref="HGNC:HGNC:17102"
                     /db_xref="MIM:601155"
ORIGIN      
        1 mlgrrlgara syspyragrq gpqqrgrdpg iqltelprkd gadavfpgps leppagssgv
       61 katgtlkrpt slsrhasaag fplsgaaswt lgrshrsplt aaspgelpte gagpdvvedi
      121 shlladvarf aegleklkec vlrddllear rpraheclge alrvmhqiis kypllntvet
      181 ltaagtliak vkafhyesnn dlekqefeka letiavafss tvseflmgev dsstllavpp
      241 gdssqsmesl ygpgsegtpp sledcdagcl paeevdvllq rceggvdaal lyaknmakym
      301 kdlisylekr ttlemefakg lqkiahncrq svmqephmpl lsiyslaleq dlefghsmvq
      361 avgtlqtqtf mqpltlrrle hekrrkeike awhraqrklq eaesnlrkak qgyvqrcedh
      421 dkarflvaka eeeqagsapg agstatktld krrrleeeak nkaeeamaty rtcvadaktq
      481 kqeledtkvt alrqiqevir qsdqtiksat isyyqmmhmq taplpvhfqm lcessklydp
      541 gqqyashvrq lqrdqepdvh ydfephvsan awspvmrark ssfnvsdvar peaagsppee
      601 ggctegtpak dhragrghqv hkswplsisd sdsgldpgpg agdfkkfert sssgtmsste
      661 elvdpdggag asafeqadln gmtpelpvav psgpfrhegl skaarthrlr klrtpakcre
      721 cnsyvyfqga eceecclach kkcletlaiq cghkklqgrl qlfgqdfsha arsapdgvpf
      781 ivkkcvceie rralrtkgiy rvngvktrve klcqafengk elvelsqasp hdisnvlkly
      841 lrqlpeplis frlyhelvgl akdslkaeae akaasrgrqd gseseavava lagrlrellr
      901 dlppenrasl qyllrhlrri veveqdnkmt pgnlgivfgp tllrprptea tvslsslvdy
      961 phqarvietl ivhyglvfee epeetpggqd essnqraevv vqvpyleage avvyplqeaa
     1021 adgcresrvv sndsdsdlee asellsssea salghlsfle qqqseaslev asgshsgsee
     1081 qleataredg dgdedgpaqq lsgfntnqsn nvlqaplppm rlrggrmtlg screrqpefv
//
LOCUS       NP_001230586             170 aa            linear   PRI 30-DEC-2022
DEFINITION  peroxisomal coenzyme A diphosphatase NUDT7 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001230586
VERSION     NP_001230586.1
DBSOURCE    REFSEQ: accession NM_001243657.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 170)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA
            and Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   2  (residues 1 to 170)
  AUTHORS   Ghosh D and Berg JM.
  TITLE     A proteome-wide perspective on peroxisome targeting signal
            1(PTS1)-Pex5p affinities
  JOURNAL   J Am Chem Soc 132 (11), 3973-3979 (2010)
   PUBMED   20178365
REFERENCE   3  (residues 1 to 170)
  AUTHORS   Dastani Z, Pajukanta P, Marcil M, Rudzicz N, Ruel I, Bailey SD, Lee
            JC, Lemire M, Faith J, Platko J, Rioux J, Hudson TJ, Gaudet D,
            Engert JC and Genest J.
  TITLE     Fine mapping and association studies of a high-density lipoprotein
            cholesterol linkage region on chromosome 16 in French-Canadian
            subjects
  JOURNAL   Eur J Hum Genet 18 (3), 342-347 (2010)
   PUBMED   19844255
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 170)
  AUTHORS   Gasmi L and McLennan AG.
  TITLE     The mouse Nudt7 gene encodes a peroxisomal nudix hydrolase specific
            for coenzyme A and its derivatives
  JOURNAL   Biochem J 357 (Pt 1), 33-38 (2001)
   PUBMED   11415433
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX387030.2, CN297379.1,
            AK296963.1 and AI927964.1.
            
            Summary: The protein encoded by this gene is a member of the Nudix
            hydrolase family. Nudix hydrolases eliminate potentially toxic
            nucleotide metabolites from the cell and regulate the
            concentrations and availability of many different nucleotide
            substrates, cofactors, and signaling molecules. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            found for this gene. [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (3) includes an alternate exon in
            the coding region, which results in a frameshift, compared to
            variant 1. The encoded isoform (3) is shorter and has a distinct
            C-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.971871.1,
                                           SRR1803617.438541.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..170
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q23.1"
     Protein         1..170
                     /product="peroxisomal coenzyme A diphosphatase NUDT7
                     isoform 3"
                     /EC_number="3.6.1.-"
                     /note="peroxisomal coenzyme A diphosphatase NUDT7; nudix
                     (nucleoside diphosphate linked moiety X)-type motif 7"
                     /calculated_mol_wt=18593
     Region          41..>115
                     /region_name="CoAse"
                     /note="Coenzyme A pyrophosphatase (CoAse), a member of the
                     Nudix hydrolase superfamily, functions to catalyze the
                     elimination of oxidized inactive CoA, which can inhibit
                     CoA-utilizing enzymes. The need of CoAses mainly arises
                     under conditions of oxidative...; cd03426"
                     /db_xref="CDD:239518"
     Site            order(60,70,77,91..92)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:239518"
     Site            order(60,70,77,91)
                     /site_type="other"
                     /note="putative CoA binding site [chemical binding]"
                     /db_xref="CDD:239518"
     Site            66
                     /site_type="other"
                     /note="Important for coenzyme A binding.
                     /evidence=ECO:0000250|UniProtKB:Q99P30; propagated from
                     UniProtKB/Swiss-Prot (P0C024.1)"
     Site            76..99
                     /site_type="other"
                     /note="nudix motif"
                     /db_xref="CDD:239518"
     Region          77..98
                     /region_name="Nudix box"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C024.1)"
     Site            92
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:239518"
     CDS             1..170
                     /gene="NUDT7"
                     /coded_by="NM_001243657.2:70..582"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS58479.1"
                     /db_xref="GeneID:283927"
                     /db_xref="HGNC:HGNC:8054"
                     /db_xref="MIM:609231"
ORIGIN      
        1 msrlglpeep vrnsllddak arlrkydigg kyshlpynky svllplvake gklhllftvr
       61 seklrrapge vcfpggkrdp tdmddaatal reaqeevglr phqvevvccl vpclidrwgs
      121 ryvdeaglel lassdpptsa sqsagitdry idnsicgfnr pqlpgpaesc
//
LOCUS       NP_061741                931 aa            linear   PRI 30-DEC-2022
DEFINITION  protocadherin gamma-A5 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_061741
VERSION     NP_061741.1
DBSOURCE    REFSEQ: accession NM_018918.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 931)
  AUTHORS   Wu Q, Zhang T, Cheng JF, Kim Y, Grimwood J, Schmutz J, Dickson M,
            Noonan JP, Zhang MQ, Myers RM and Maniatis T.
  TITLE     Comparative DNA sequence analysis of mouse and human protocadherin
            gene clusters
  JOURNAL   Genome Res 11 (3), 389-404 (2001)
   PUBMED   11230163
REFERENCE   2  (residues 1 to 931)
  AUTHORS   Nollet F, Kools P and van Roy F.
  TITLE     Phylogenetic analysis of the cadherin superfamily allows
            identification of six major subfamilies besides several solitary
            members
  JOURNAL   J Mol Biol 299 (3), 551-572 (2000)
   PUBMED   10835267
  REMARK    Review article
REFERENCE   3  (residues 1 to 931)
  AUTHORS   Yagi T and Takeichi M.
  TITLE     Cadherin superfamily genes: functions, genomic organization, and
            neurologic diversity
  JOURNAL   Genes Dev 14 (10), 1169-1180 (2000)
   PUBMED   10817752
  REMARK    Review article
REFERENCE   4  (residues 1 to 931)
  AUTHORS   Wu Q and Maniatis T.
  TITLE     Large exons encoding multiple ectodomains are a characteristic
            feature of protocadherin genes
  JOURNAL   Proc Natl Acad Sci U S A 97 (7), 3124-3129 (2000)
   PUBMED   10716726
REFERENCE   5  (residues 1 to 931)
  AUTHORS   Wu Q and Maniatis T.
  TITLE     A striking organization of a large family of human neural
            cadherin-like cell adhesion genes
  JOURNAL   Cell 97 (6), 779-790 (1999)
   PUBMED   10380929
REFERENCE   6  (residues 1 to 931)
  AUTHORS   Matsuyoshi N, Tanaka T, Toda K and Imamura S.
  TITLE     Identification of novel cadherins expressed in human melanoma cells
  JOURNAL   J Invest Dermatol 108 (6), 908-913 (1997)
   PUBMED   9182820
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005618.1 and AF152325.1.
            
            Summary: This gene is a member of the protocadherin gamma gene
            cluster, one of three related clusters tandemly linked on
            chromosome five. These gene clusters have an immunoglobulin-like
            organization, suggesting that a novel mechanism may be involved in
            their regulation and expression. The gamma gene cluster includes 22
            genes divided into 3 subfamilies. Subfamily A contains 12 genes,
            subfamily B contains 7 genes and 2 pseudogenes, and the more
            distantly related subfamily C contains 3 genes. The tandem array of
            22 large, variable region exons are followed by a constant region,
            containing 3 exons shared by all genes in the cluster. Each
            variable region exon encodes the extracellular region, which
            includes 6 cadherin ectodomains and a transmembrane region. The
            constant region exons encode the common cytoplasmic region. These
            neural cadherin-like cell adhesion proteins most likely play a
            critical role in the establishment and function of specific
            cell-cell connections in the brain. Alternative splicing has been
            described for the gamma cluster genes. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) includes the constant region
            exons and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.3008484.1, AF152325.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000518069.2/ ENSP00000429834.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..931
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     Protein         1..931
                     /product="protocadherin gamma-A5 isoform 1 precursor"
                     /note="cadherin ME3; protocadherin gamma-A5"
                     /calculated_mol_wt=98390
     sig_peptide     1..24
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2563
     mat_peptide     30..931
                     /product="protocadherin gamma-A5 isoform 1"
                     /calculated_mol_wt=97963
     Region          30..112
                     /region_name="Cadherin_2"
                     /note="Cadherin-like; pfam08266"
                     /db_xref="CDD:400525"
     Region          137..238
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(144..145,201,203,234,236..237)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          246..343
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(253..254,308,310,339,341..342)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          355..448
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(358..359,411,413,444,446..447)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            419
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5G8.1)"
     Region          456..558
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(463..464,521,523,554,556..557)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            545
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5G8.1)"
     Region          579..666
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Region          688..772
                     /region_name="Cadherin_C_2"
                     /note="Cadherin cytoplasmic C-terminal; pfam16492"
                     /db_xref="CDD:435374"
     Site            693..713
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5G8.1)"
     Region          800..840
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5G8.1)"
     Region          810..>904
                     /region_name="Cadherin_tail"
                     /note="Cadherin C-terminal cytoplasmic tail,
                     catenin-binding region; pfam15974"
                     /db_xref="CDD:435046"
     Region          901..931
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5G8.1)"
     CDS             1..931
                     /gene="PCDHGA5"
                     /gene_synonym="CDH-GAMMA-A5; ME3; PCDH-GAMMA-A5"
                     /coded_by="NM_018918.3:170..2965"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS54925.1"
                     /db_xref="GeneID:56110"
                     /db_xref="HGNC:HGNC:8703"
                     /db_xref="MIM:606292"
ORIGIN      
        1 maspprgwgc gelllpfmll gtlcepgsgq irysmpeeld kgsfvgniak dlglepqela
       61 ergvrivsrg rtqlfalnpr sgslvtagri dreelcaqsp lcvvnfnilv enkmkiygve
      121 veiidindnf prfrdeelkv kvnenaaagt rlvlpfarda dvgvnslrsy qlssnlhfsl
      181 dvvsgtdgqk ypelvleqpl dreketvhdl lltaldggdp vlsgtthirv tvldandnap
      241 lftpseysvs vpenipvgtr llmltatdpd egingkltys frneeekise tfqldsnlge
      301 istlqsldye esrfylmevv aqdggalvas akvvvtvqdv ndnapevilt sltssisedc
      361 lpgtvialfs vhdgdsgeng eiacsiprnl pfkleksvdn yyhllttrdl dreetsdyni
      421 tltvmdhgtp plsteshipl kvadvndnpp nfpqasysts vtennprgvs ifsvtahdpd
      481 sgdnarvtys laedtfqgap lssyvsinsd tgvlyalrsf dyeqlrdlql wvtasdsgnp
      541 plssnvslsl fvldqndntp eilypalptd gstgvelapr saepgylvtk vvavdkdsgq
      601 nawlsyrllk asepglfavg lhtgevrtar alldrdalkq slvvavedhg qpplsatftv
      661 tvavadripd iladlgsikt pidpedldlt lylvvavaav scvflafviv llvlrlrrwh
      721 ksrllqaegs rlagvpashf vgvdgvrafl qtyshevslt adsrkshlif pqpnyadtll
      781 seesceksep llmsdkvdan keerrvqqap pntdwrfsqa qrpgtsgsqn gddtgtwpnn
      841 qfdtemlqam ilasaseaad gsstlgggag tmglsarygp qftlqhvpdy rqnvyipgsn
      901 atltnaagkr dgkapaggng nkkksgkkek k
//
LOCUS       NP_001353474             499 aa            linear   PRI 30-DEC-2022
DEFINITION  inositol 1,4,5-triphosphate receptor associated 2 isoform a [Homo
            sapiens].
ACCESSION   NP_001353474 XP_005253429
VERSION     NP_001353474.1
DBSOURCE    REFSEQ: accession NM_001366545.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 499)
  AUTHORS   Okumura W, Kozono T, Sato H, Matsui H, Takagi T, Tonozuka T and
            Nishikawa A.
  TITLE     Jaw1/LRMP increases Ca2+ influx upon GPCR stimulation with
            heterogeneous effect on the activity of each ITPR subtype
  JOURNAL   Sci Rep 12 (1), 9476 (2022)
   PUBMED   35676525
  REMARK    GeneRIF: Jaw1/LRMP increases Ca(2+) influx upon GPCR stimulation
            with heterogeneous effect on the activity of each ITPR subtype.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 499)
  AUTHORS   Bataille P, Michaud V, Robert MP, Bekel L, Leclerc-Mercier S,
            Harroche A, Celerier C, Lasseaux E, Borgel D, Bremond-Gignac D,
            Bodemer C, Arveiler B and Hadj-Rabia S.
  TITLE     Clinical variability and probable founder effect in oculocutaneous
            albinism type 7
  JOURNAL   Clin Genet 97 (3), 527-528 (2020)
   PUBMED   31694064
  REMARK    GeneRIF: Clinical variability and probable founder effect in
            oculocutaneous albinism type 7.
REFERENCE   3  (residues 1 to 499)
  AUTHORS   Eijgelsheim M, Newton-Cheh C, Sotoodehnia N, de Bakker PI, Muller
            M, Morrison AC, Smith AV, Isaacs A, Sanna S, Dorr M, Navarro P,
            Fuchsberger C, Nolte IM, de Geus EJ, Estrada K, Hwang SJ, Bis JC,
            Ruckert IM, Alonso A, Launer LJ, Hottenga JJ, Rivadeneira F,
            Noseworthy PA, Rice KM, Perz S, Arking DE, Spector TD, Kors JA,
            Aulchenko YS, Tarasov KV, Homuth G, Wild SH, Marroni F, Gieger C,
            Licht CM, Prineas RJ, Hofman A, Rotter JI, Hicks AA, Ernst F,
            Najjar SS, Wright AF, Peters A, Fox ER, Oostra BA, Kroemer HK,
            Couper D, Volzke H, Campbell H, Meitinger T, Uda M, Witteman JC,
            Psaty BM, Wichmann HE, Harris TB, Kaab S, Siscovick DS, Jamshidi Y,
            Uitterlinden AG, Folsom AR, Larson MG, Wilson JF, Penninx BW,
            Snieder H, Pramstaller PP, van Duijn CM, Lakatta EG, Felix SB,
            Gudnason V, Pfeufer A, Heckbert SR, Stricker BH, Boerwinkle E and
            O'Donnell CJ.
  TITLE     Genome-wide association analysis identifies multiple loci related
            to resting heart rate
  JOURNAL   Hum Mol Genet 19 (19), 3885-3894 (2010)
   PUBMED   20639392
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   4  (residues 1 to 499)
  AUTHORS   Liu CY, Wu MC, Chen F, Ter-Minassian M, Asomaning K, Zhai R, Wang
            Z, Su L, Heist RS, Kulke MH, Lin X, Liu G and Christiani DC.
  TITLE     A Large-scale genetic association study of esophageal
            adenocarcinoma risk
  JOURNAL   Carcinogenesis 31 (7), 1259-1263 (2010)
   PUBMED   20453000
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 499)
  AUTHORS   Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML and Seielstad M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 499)
  AUTHORS   Kohno T, Kunitoh H, Suzuki K, Yamamoto S, Kuchiba A, Matsuno Y,
            Yanagitani N and Yokota J.
  TITLE     Association of KRAS polymorphisms with risk for lung adenocarcinoma
            accompanied by atypical adenomatous hyperplasias
  JOURNAL   Carcinogenesis 29 (5), 957-963 (2008)
   PUBMED   18299280
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 499)
  AUTHORS   Manenti G, Galbiati F, Pettinicchio A, Spinola M, Piconese S, Leoni
            VP, Conti B, Ravagnani F, Incarbone M, Pastorino U and Dragani TA.
  TITLE     A V141L polymorphism of the human LRMP gene is associated with
            survival of lung cancer patients
  JOURNAL   Carcinogenesis 27 (7), 1386-1390 (2006)
   PUBMED   16410263
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 499)
  AUTHORS   Snyder HL, Bacik I, Bennink JR, Kearns G, Behrens TW, Bachi T,
            Orlowski M and Yewdell JW.
  TITLE     Two novel routes of transporter associated with antigen processing
            (TAP)-independent major histocompatibility complex class I antigen
            processing
  JOURNAL   J Exp Med 186 (7), 1087-1098 (1997)
   PUBMED   9314557
REFERENCE   9  (residues 1 to 499)
  AUTHORS   Behrens TW, Kearns GM, Rivard JJ, Bernstein HD, Yewdell JW and
            Staudt LM.
  TITLE     Carboxyl-terminal targeting and novel post-translational processing
            of JAW1, a lymphoid protein of the endoplasmic reticulum
  JOURNAL   J Biol Chem 271 (38), 23528-23534 (1996)
   PUBMED   8798562
REFERENCE   10 (residues 1 to 499)
  AUTHORS   Behrens TW, Jagadeesh J, Scherle P, Kearns G, Yewdell J and Staudt
            LM.
  TITLE     Jaw1, A lymphoid-restricted membrane protein localized to the
            endoplasmic reticulum
  JOURNAL   J Immunol 153 (2), 682-690 (1994)
   PUBMED   8021504
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC023510.16.
            On Oct 11, 2018 this sequence version replaced XP_005253429.1.
            
            Summary: The protein encode dby this gene is expressed in a
            developmentally regulated manner in lymphoid cell lines and
            tissues. The protein is localized to the cytoplasmic face of the
            endoplasmic reticulum. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.176665.1,
                                           SRR18074968.1097214.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..499
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.1"
     Protein         1..499
                     /product="inositol 1,4,5-triphosphate receptor associated
                     2 isoform a"
                     /note="protein Jaw1; lymphoid restricted membrane protein"
                     /calculated_mol_wt=56082
     Region          1..499
                     /region_name="MRVI1"
                     /note="MRVI1 protein; pfam05781"
                     /db_xref="CDD:428625"
     CDS             1..499
                     /gene="IRAG2"
                     /gene_synonym="JAW1; LRMP"
                     /coded_by="NM_001366545.2:550..2049"
                     /note="isoform a is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS8701.1"
                     /db_xref="GeneID:4033"
                     /db_xref="HGNC:HGNC:6690"
                     /db_xref="MIM:602003"
ORIGIN      
        1 mnddpsmeen gvervcpesl lqsreysslp lprhtsstdg titssdpgle ilnmascdld
       61 rnslckkeed trsasptiea qgtspahdni afqdstskdk tilnleakee petieehkke
      121 hasgdsvvsp lpvttvksvn lrqsentsan ekeveaeflr lslgfkcdwf tlekrvklee
      181 rsrdlaeenl kkeitnclkl lesltplced dnqaqeiikk leksikflsq caarvasrae
      241 mlgainqesr vskavevmiq hvenlkrmya kehaeleelk qvllqnersf npleddddcq
      301 ikkrsaslns kpsslrrvti aslprnigna gmvagmennd rfsrrssswr ilgskqsehr
      361 pslprfisty swadaeeekc elktkddsep sgeetvertr kpslsekknn pskwdvssvy
      421 dtiaswatnl kssirkanka lwlsiafivl faalmsfltg qlfqksvdaa ptqqedswts
      481 lehilwpftr lrhngpppv
//
LOCUS       NP_001269877            2358 aa            linear   PRI 30-DEC-2022
DEFINITION  probable JmjC domain-containing histone demethylation protein 2C
            isoform c [Homo sapiens].
ACCESSION   NP_001269877 XP_005269680
VERSION     NP_001269877.1
DBSOURCE    REFSEQ: accession NM_001282948.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2358)
  AUTHORS   Wang J, Liu X, Wang H, Qin L, Feng A, Qi D, Wang H, Zhao Y, Kong L,
            Wang H, Wang L, Hu Z and Xu X.
  TITLE     JMJD1C Regulates Megakaryopoiesis in In Vitro Models through the
            Actin Network
  JOURNAL   Cells 11 (22), 3660 (2022)
   PUBMED   36429088
  REMARK    GeneRIF: JMJD1C Regulates Megakaryopoiesis in In Vitro Models
            through the Actin Network.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 2358)
  AUTHORS   Zhao L, Qi F, Du D and Wu N.
  TITLE     Histone demethylase KDM3C regulates the lncRNA GAS5-miR-495-3p-PHF8
            axis in cardiac hypertrophy
  JOURNAL   Ann N Y Acad Sci 1516 (1), 286-299 (2022)
   PUBMED   35777757
  REMARK    GeneRIF: Histone demethylase KDM3C regulates the lncRNA
            GAS5-miR-495-3p-PHF8 axis in cardiac hypertrophy.
REFERENCE   3  (residues 1 to 2358)
  AUTHORS   Qi D, Wang J, Zhao Y, Yang Y, Wang Y, Wang H, Wang L, Wang Z, Xu X
            and Hu Z.
  TITLE     JMJD1C-regulated lipid synthesis contributes to the maintenance of
            MLL-rearranged acute myeloid leukemia
  JOURNAL   Leuk Lymphoma 63 (9), 2149-2160 (2022)
   PUBMED   35468015
  REMARK    GeneRIF: JMJD1C-regulated lipid synthesis contributes to the
            maintenance of MLL-rearranged acute myeloid leukemia.
REFERENCE   4  (residues 1 to 2358)
  AUTHORS   Zhong C, Tao B, Yang F, Xia K, Yang X, Chen L, Peng T, Xia X, Li X
            and Peng L.
  TITLE     Histone demethylase JMJD1C promotes the polarization of M1
            macrophages to prevent glioma by upregulating miR-302a
  JOURNAL   Clin Transl Med 11 (9), e424 (2021)
   PUBMED   34586733
  REMARK    GeneRIF: Histone demethylase JMJD1C promotes the polarization of M1
            macrophages to prevent glioma by upregulating miR-302a.
REFERENCE   5  (residues 1 to 2358)
  AUTHORS   Tarnopolsky M, Phillips S, Parise G, Varbanov A, Demuth J, Stevens
            P, Qu A, Wang F and Isfort R.
  TITLE     Gene expression, fiber type, and strength are similar between left
            and right legs in older adults
  JOURNAL   J Gerontol A Biol Sci Med Sci 62 (10), 1088-1095 (2007)
   PUBMED   17921420
REFERENCE   6  (residues 1 to 2358)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Comparative integromics on JMJD1C gene encoding histone
            demethylase: conserved POU5F1 binding site elucidating mechanism of
            JMJD1C expression in undifferentiated ES cells and diffuse-type
            gastric cancer
  JOURNAL   Int J Oncol 31 (1), 219-223 (2007)
   PUBMED   17549425
  REMARK    GeneRIF: Human JMJD1C variant 2 with TRI8H1, TRI8H2, and JmjC
            domains showed 85.7% total-amino-acid identity with mouse Jmjd1c.
REFERENCE   7  (residues 1 to 2358)
  AUTHORS   Wolf SS, Patchev VK and Obendorf M.
  TITLE     A novel variant of the putative demethylase gene, s-JMJD1C, is a
            coactivator of the AR
  JOURNAL   Arch Biochem Biophys 460 (1), 56-66 (2007)
   PUBMED   17353003
  REMARK    GeneRIF: the discovery of a new Receptors, Androgen coactivator
            which belongs to the JmjC containing enzyme family as a novel
            variant of JMJD1C
REFERENCE   8  (residues 1 to 2358)
  AUTHORS   Castermans D, Vermeesch JR, Fryns JP, Steyaert JG, Van de Ven WJ,
            Creemers JW and Devriendt K.
  TITLE     Identification and characterization of the TRIP8 and REEP3 genes on
            chromosome 10q21.3 as novel candidate genes for autism
  JOURNAL   Eur J Hum Genet 15 (4), 422-431 (2007)
   PUBMED   17290275
  REMARK    GeneRIF: TRIP8 gene codes for a protein predicted to be a
            transcriptional regulator associated with nuclear thyroid hormone
            receptors. Positional candidate gene for autism.
REFERENCE   9  (residues 1 to 2358)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of TRIP8 gene in silico
  JOURNAL   Int J Mol Med 12 (5), 817-821 (2003)
   PUBMED   14533015
REFERENCE   10 (residues 1 to 2358)
  AUTHORS   Lee JW, Choi HS, Gyuris J, Brent R and Moore DD.
  TITLE     Two classes of proteins dependent on either the presence or absence
            of thyroid hormone for interaction with the thyroid hormone
            receptor
  JOURNAL   Mol Endocrinol 9 (2), 243-254 (1995)
   PUBMED   7776974
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL607128.8, AL713895.8 and
            AL590502.12.
            On Sep 24, 2013 this sequence version replaced XP_005269680.1.
            
            Summary: The protein encoded by this gene interacts with thyroid
            hormone receptors and contains a jumonji domain. It is a candidate
            histone demethylase and is thought to be a coactivator for key
            transcription factors. It plays a role in the DNA-damage response
            pathway by demethylating the mediator of DNA damage checkpoint 1
            (MDC1) protein, and is required for the survival of acute myeloid
            leukemia. Mutations in this gene are associated with Rett syndrome
            and intellectual disability. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (3) contains alternate 5' exon
            structure, and it thus differs in the 5' UTR and initiates
            translation from a downstream in-frame start codon, compared to
            variant 1. The encoded isoform (c, also known as s-JMJD1C) is
            shorter at the N-terminus, compared to isoform a. Both variants 3
            and 4 encode isoform c.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC143722.1, SRR14038194.4208194.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2358
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.3"
     Protein         1..2358
                     /product="probable JmjC domain-containing histone
                     demethylation protein 2C isoform c"
                     /note="thyroid hormone receptor interactor 8; probable
                     JmjC domain-containing histone demethylation protein 2C;
                     TR-interacting protein 8; thyroid receptor-interacting
                     protein 8"
                     /calculated_mol_wt=263027
     Region          <125..490
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          2096..2168
                     /region_name="JmjC"
                     /note="A domain family that is part of the cupin
                     metalloenzyme superfamily; smart00558"
                     /db_xref="CDD:214721"
     Region          2200..2299
                     /region_name="cupin_RmlC-like"
                     /note="RmlC-like cupin superfamily; cl40423"
                     /db_xref="CDD:454753"
     CDS             1..2358
                     /gene="JMJD1C"
                     /gene_synonym="KDM3C; TRIP-8; TRIP8"
                     /coded_by="NM_001282948.2:795..7871"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS60538.1"
                     /db_xref="GeneID:221037"
                     /db_xref="HGNC:HGNC:12313"
                     /db_xref="MIM:604503"
ORIGIN      
        1 mqgpyslngy rvrvyrqdsa tqwftgiith hdlftrtmiv mndqvlepqn vdpsmvqmtf
       61 lddvvhsllk genigitsrr rsranqnvna vhshytraqa nsprpamnsq aavpkqnthq
      121 qqqqrsirpn krkgsdssip deekmkeeky dyisrgenpk gknkhlmnkr rkpeedekkl
      181 nmkrlrtdnv sdfsessdse nsnkriidns seqkpenelk nkntskinge egkphnneka
      241 geetlknsqp pwdqiqedkk heeaekrksv dtqlqedmii hsseqstvsd hnsndllpqe
      301 cnmdkthtme llpkekfvsr pptpkcvidi tndtnlekva qensstfglq tlqkmdpnvs
      361 dskhsianak fletakkdsd qswvsdvvkv dltqssvtna ssgndhlnme kekyvsyisp
      421 lsavsvmedk lhkrspppet iksklntsvd thkiksspsp evvkpkiths pdsvkskaty
      481 vnsqatgerr lankiehels rcsfhpiptr sstlettksp liidknehft vyrdpaligs
      541 etganhispf lsqhpfplhs sshrtclnpg thhpaltpap hllagsssqt plptinthpl
      601 tsgphhavhh phllptvlpg vptasllggh prlesahass lshlalahqq qqqllqhqsp
      661 hllgqahpsa synqlglypi iwqypngtha ysglglpssk wvhpenavna easlrrnsps
      721 pwlhqptpvt sadgigllsh ipvrpssaep hrplkitahs sppltktlvd hhkeelerka
      781 fmeplrsvas tsakndldln rsqtgkdchl hrhfvdpvln qlqrppqetg erlnkykeeh
      841 rrilqesidv apfttkikgl egerenysrv assssspksh iikqdmdver svsdlykmkh
      901 svpqslpqsn yfttlsnsvv nepprsypsk evsniygdkq snalaaaaan pqtltsfits
      961 lskppplikh qpeseglvgk ipehlphqia shsvttfrnd crspthltvs stntlrsmpa
     1021 lhrapvfhpp ihhslerkeg sysslspptl tpvmpvnagg kvqesqkppt lipepkdsqa
     1081 nfkssseqsl temwrpnnnl skektewhve kssgklqaam asvivrpsss tktdsmpamq
     1141 laskdrvser ssagahktdc lklaeagetg riilpnvnsd svhtkseknf qavsqgsvps
     1201 svmsavntmc ntktdvitsa adttsvsswg gsevisslsn tilastssec vssksvsqpv
     1261 aqkqeckvst tapvtlassk tgsvvqpssg fsgttdfihl kkhkaalaaa qykssnaset
     1321 epnaiknqtl saslpldstv icstinkans vgngqasqts qpnyhtklkk awltrhseed
     1381 kntnkmensg nsvseiikpc svnliastss diqnsvdski ivdkyvkddk vnrrkakrty
     1441 esgsesgdsd eseskseqrt krqpkptykk kqndlqkrkg eieedlkpng vlsrsakers
     1501 klklqsnsnt giprsvlkdw rkvkklkqtg esflqddscc eigpnlqkcr ecrlirskkg
     1561 eepahspvfc rfyyfrrlsf skngvvridg fsspdqydde amslwthenf eddeldiets
     1621 kyildiigdk fcqlvtsekt alswvkkdak iawkravrgv remcdaceat lfnihwvcqk
     1681 cgfvvcldcy kakerkssrd kelyawmkcv kgqphdhkhl mptqiipgsv ltdlldamht
     1741 lrekygiksh chctnkqnlq vgnfptmngv sqvlqnvlnh snkislcmpe sqqqntppks
     1801 eknggsspes dvgtdnkltp pesqsplhwl adlaeqkare ekkenkeltl enqikeereq
     1861 dnsespngrt splvsqnneq gstlrdlltt tagklrvgst dagiafapvy smgapssksg
     1921 rtmpnilddi iasvvenkip psktskinvk pelkeepees iisavdennk lysdiphswi
     1981 cekhilwlkd yknssnwklf kecwkqgqpa vvsgvhkkmn islwkaesis ldfgdhqadl
     2041 lnckdsiisn anvkefwdgf eevskrqknk sgetvvlklk dwpsgedfkt mmparyedll
     2101 kslplpeycn pegkfnlash lpgffvrpdl gprlcsaygv vaakdhdigt tnlhievsdv
     2161 vnilvyvgia kgngilskag ilkkfeeedl ddilrkrlkd sseipgalwh iyagkdvdki
     2221 reflqkiske qglevlpehd pirdqswyvn kklrqrllee ygvrtctliq flgdaivlpa
     2281 galhqvqnfh sciqvtedfv spehlvesfh ltqelrllke einyddklqv knilyhavke
     2341 mvralkihed evedmeen
//
LOCUS       NP_001374621            1190 aa            linear   PRI 30-DEC-2022
DEFINITION  nuclear envelope pore membrane protein POM 121 isoform 5 [Homo
            sapiens].
ACCESSION   NP_001374621 XP_005250784
VERSION     NP_001374621.1
DBSOURCE    REFSEQ: accession NM_001387692.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1190)
  AUTHORS   Becker F, Offermann A, Roesch MC, Joerg V, Roth D, Lubczyk V,
            Kuefer R, Sailer V, Kirfel J, Merseburger AS and Perner S.
  TITLE     Up-regulation of POM121 is linked to prostate cancer aggressiveness
            and serves as a prognostic biomarker
  JOURNAL   Urol Oncol 40 (8), 380 (2022)
   PUBMED   35725938
  REMARK    GeneRIF: Up-regulation of POM121 is linked to prostate cancer
            aggressiveness and serves as a prognostic biomarker.
REFERENCE   2  (residues 1 to 1190)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (residues 1 to 1190)
  AUTHORS   Zhang S, Zheng C, Li D, Bei C, Zhang H, Tian R, Song X, Zhu X and
            Tan S.
  TITLE     Clinical Significance of POM121 Expression in Lung Cancer
  JOURNAL   Genet Test Mol Biomarkers 24 (12), 819-824 (2020)
   PUBMED   33296260
  REMARK    GeneRIF: Clinical Significance of POM121 Expression in Lung Cancer.
REFERENCE   4  (residues 1 to 1190)
  AUTHORS   Zhao R, Tang G, Wang T, Zhang L, Wang W, Zhao Q and Zhao K.
  TITLE     POM121 is a novel marker for predicting the prognosis of laryngeal
            cancer
  JOURNAL   Histol Histopathol 35 (11), 1285-1293 (2020)
   PUBMED   33016327
  REMARK    GeneRIF: POM121 is a novel marker for predicting the prognosis of
            laryngeal cancer.
REFERENCE   5  (residues 1 to 1190)
  AUTHORS   Coyne AN, Zaepfel BL, Hayes L, Fitchman B, Salzberg Y, Luo EC,
            Bowen K, Trost H, Aigner S, Rigo F, Yeo GW, Harel A, Svendsen CN,
            Sareen D and Rothstein JD.
  TITLE     G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific
            Nucleoporins in C9orf72 ALS/FTD
  JOURNAL   Neuron 107 (6), 1124-1140 (2020)
   PUBMED   32673563
  REMARK    GeneRIF: G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in
            Specific Nucleoporins in C9orf72 ALS/FTD.
REFERENCE   6  (residues 1 to 1190)
  AUTHORS   Funakoshi T, Maeshima K, Yahata K, Sugano S, Imamoto F and Imamoto
            N.
  TITLE     Two distinct human POM121 genes: requirement for the formation of
            nuclear pore complexes
  JOURNAL   FEBS Lett 581 (25), 4910-4916 (2007)
   PUBMED   17900573
  REMARK    GeneRIF: RNAi experiments showed that efficient depletion of both
            Pom121 proteins significantly reduces assembled nuclear pore
            complexes on nuclear envelope.
REFERENCE   7  (residues 1 to 1190)
  AUTHORS   Le Rouzic E, Mousnier A, Rustum C, Stutz F, Hallberg E, Dargemont C
            and Benichou S.
  TITLE     Docking of HIV-1 Vpr to the nuclear envelope is mediated by the
            interaction with the nucleoporin hCG1
  JOURNAL   J Biol Chem 277 (47), 45091-45098 (2002)
   PUBMED   12228227
REFERENCE   8  (residues 1 to 1190)
  AUTHORS   Daigle N, Beaudouin J, Hartnell L, Imreh G, Hallberg E,
            Lippincott-Schwartz J and Ellenberg J.
  TITLE     Nuclear pore complexes form immobile networks and have a very low
            turnover in live mammalian cells
  JOURNAL   J Cell Biol 154 (1), 71-84 (2001)
   PUBMED   11448991
REFERENCE   9  (residues 1 to 1190)
  AUTHORS   Bodoor K, Shaikh S, Enarson P, Chowdhury S, Salina D, Raharjo WH
            and Burke B.
  TITLE     Function and assembly of nuclear pore complex proteins
  JOURNAL   Biochem Cell Biol 77 (4), 321-329 (1999)
   PUBMED   10546895
  REMARK    Review article
REFERENCE   10 (residues 1 to 1190)
  AUTHORS   Hallberg E, Wozniak RW and Blobel G.
  TITLE     An integral membrane protein of the pore membrane domain of the
            nuclear envelope contains a nucleoporin-like region
  JOURNAL   J Cell Biol 122 (3), 513-521 (1993)
   PUBMED   8335683
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC211476.5.
            On Oct 8, 2020 this sequence version replaced XP_005250784.1.
            
            Summary: This gene encodes a transmembrane protein that localizes
            to the inner nuclear membrane and forms a core component of the
            nuclear pore complex, which mediates transport to and from the
            nucleus. The encoded protein may anchor this complex to the nuclear
            envelope. There are multiple related genes and pseudogenes for this
            gene on chromosomes 5, 7, 15, and 22. Alternatively spliced
            transcript variants encoding different isoforms have been observed.
            [provided by RefSeq, Jul 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1933873.1,
                                           SRR18074967.1025375.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1190
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     Protein         1..1190
                     /product="nuclear envelope pore membrane protein POM 121
                     isoform 5"
                     /note="nuclear pore membrane protein 121 kDa; nuclear
                     envelope pore membrane protein POM 121; nucleoporin
                     Nup121; nuclear envelope pore membrane protein POM 121A;
                     POM121 membrane glycoprotein"
                     /calculated_mol_wt=121580
     Region          321..552
                     /region_name="POM121"
                     /note="POM121 family; pfam15229"
                     /db_xref="CDD:434551"
     Region          <568..931
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          971..>1176
                     /region_name="PRK12688"
                     /note="flagellin; Reviewed"
                     /db_xref="CDD:171664"
     CDS             1..1190
                     /gene="POM121"
                     /gene_synonym="P145; POM121A"
                     /coded_by="NM_001387692.1:28..3600"
                     /note="isoform 5 is encoded by transcript variant 11"
                     /db_xref="GeneID:9883"
                     /db_xref="HGNC:HGNC:19702"
                     /db_xref="MIM:615753"
ORIGIN      
        1 mspaaaaaga gerrrpiasv rdgrgrgcgg paravllgls lvglllylvp aaaalawltv
       61 gataawwgls reprgsrpls sfvrkarhrr plssfvrkar hrrtlfaspl akstangnll
      121 eprtllegpd paelllmgsy lgkpgppqpa aapegqdlrd rpgrrpparp aprsppprsp
      181 pprspppspp thrahhvyps lptpllrpsr rpsprdcgtl pnrfvitprr rypihqaqys
      241 clgvlptvcw ngyhkkavls prnsrmvcsp vtvriappdr rfsrsaipeq iisstlssps
      301 snapdpcake tvlsalkeke kkrtveeedq ifldgqenkr rrhdssgsgh safeplvang
      361 vpasfvpkpg slkrglnsqs sddhlnkrsr sssmssltga yasgipsssr naitssysst
      421 rgisqlwkrn gpssspfssp assrsqtper pakkireeel chhsssstpl aadresqgek
      481 aadttprkkq nsnsqstpgs sgqrkrkvql lpsrrgeqlt lppppqlgys itaedldlek
      541 kaslqwfnqa ledksesaga attealsppk tpsllpplgl sqsgppgllp spsfdskppt
      601 tllglipaps mvpatdtkap ptlqaetatk pqatsapspa pkqsflfgtq ntspsspaap
      661 aassappmfk piftappkse kegptppgps vtatapssss lptttsttap tfqpvfssmg
      721 ppasvplpap ffkqtttpat aptttaplft glasatsava pitsaspstd saskpafgfg
      781 insvssssvs tttstataas qpflfgapqa saasftpamg sifqfgkppa lpttttvttf
      841 sqslhtavpt atsssaadfs gfgstlatsa patssqptlt fsntstptfn ipfgssaksp
      901 lpsypganpq pafgaaegqp pgaakpalap sfgssftfgn saapaaaptp appsmikvvp
      961 ayvptpihpi fggathsafg lkatasafga passqpafgg stavffgaat ssgfgattqt
     1021 assgssssvf gsttpspftf ggsaapagsg sfginvatpg sstttgafsf gagqsgstat
     1081 stpfagglgq nalgttgqst pfafnvsstt eskpvfggta tptfglntpa pgvgtsgssl
     1141 sfgassapaq gfvgvapfgs aalsfsigag sktpgarqrl qarrqhtrkk
//
LOCUS       NP_001339061             603 aa            linear   PRI 31-DEC-2022
DEFINITION  zinc finger protein 415 isoform 3 [Homo sapiens].
ACCESSION   NP_001339061 XP_016882448
VERSION     NP_001339061.1
DBSOURCE    REFSEQ: accession NM_001352132.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 603)
  AUTHORS   Kobayashi Y, Umemoto T, Takeshita Y, Kohyama N, Ohbayashi M, Sanada
            Y and Yamamoto T.
  TITLE     Functional characterization and substrate specificity of a novel
            gene encoding zinc finger-like protein, ZfLp, in Xenopus laevis
            oocytes
  JOURNAL   J Toxicol Sci 37 (4), 699-709 (2012)
   PUBMED   22863851
  REMARK    GeneRIF: ZfLp is a zinc finger protein that functions as a drug
            carrier protein.
REFERENCE   2  (residues 1 to 603)
  AUTHORS   Cheng Y, Wang Y, Li Y, Deng Y, Hu J, Mo X, Li N, Li Y, Luo N, Yuan
            W, Xiao J, Zhu C, Wu X and Liu M.
  TITLE     A novel human gene ZNF415 with five isoforms inhibits AP-1- and
            p53-mediated transcriptional activity
  JOURNAL   Biochem Biophys Res Commun 351 (1), 33-39 (2006)
   PUBMED   17055453
  REMARK    GeneRIF: ZNF415 isoforms in COS-7 cells inhibits the
            transcriptional activities of AP-1 and p53, suggesting that the
            ZNF415 protein may be involved in AP-1- and p53-mediated
            transcriptional activity.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA692431.1, CN426971.1, DB173728.1, AC010328.4 and R40095.1.
            On Jun 7, 2017 this sequence version replaced XP_016882448.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.72559.1,
                                           SRR1803611.78044.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..603
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..603
                     /product="zinc finger protein 415 isoform 3"
                     /calculated_mol_wt=68613
     Region          <160..422
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          268..286
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          292..>587
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          294..314
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(294,297,310,314)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(299,301,303,305..306,309..310,313,327,329,333..334,
                     337..338,341,355,357,359,361..362,365..366,369)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          322..342
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          350..370
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          378..398
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(378,381,394,398)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          406..426
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(406,409,422,426)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(411,413,415,417..418,421..422,425,439,441,445..446,
                     449..450,453,467,469,471,473..474,477..478,481)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          434..454
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          462..482
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          490..510
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          518..538
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          546..566
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          574..594
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..603
                     /gene="ZNF415"
                     /gene_synonym="Pact; ZfLp"
                     /coded_by="NM_001352132.2:316..2127"
                     /note="isoform 3 is encoded by transcript variant 8"
                     /db_xref="GeneID:55786"
                     /db_xref="HGNC:HGNC:20636"
                     /db_xref="MIM:619506"
ORIGIN      
        1 mpelytedfi qgcdvgelqe pglpgvlsyv gaqeraldhr kpstsskktk rvgmdqrcen
       61 rlecngaisa hcnlrlpdsn dspasasrva gitdlsrncv ikelapqqeg npgevfhtvt
      121 leqhekhdie efcfreikkk ihdfdcqwrd derncnkvtt apkenltcrr dqrdrrgign
      181 ksikhqlgls flphphelqq fqaegkiyec nhveksvnhg ssvsppqiis stikthvsnk
      241 ygtdficssl ltqeqkscir ekpyryiecd kalnhgshmt vrqvshsgek gykcdlcgkv
      301 fsqksnlarh wrvhtgekpy kcnecdrsfs rnsclalhrr vhtgekpykc yecdkvfsrn
      361 sclalhqkth igekpytcke cgkafsvrst ltnhqvihsg kkpykcnecg kvfsqtssla
      421 thqrihtgek pykcnecgkv fsqtsslarh wrihtgekpy kcnecgkvfs ynshlashrr
      481 vhtgekpykc necgkafsvh snltthqvih tgekpykcnq cgkgfsvhss ltthqvihtg
      541 ekpykcnecg ksfsvrpnlt rhqiihtgkk pykcsdcgks fsvrpnlfrh qiihtkekpy
      601 krn
//
LOCUS       NP_001381504             553 aa            linear   PRI 31-DEC-2022
DEFINITION  mitoguardin 1 isoform 9 [Homo sapiens].
ACCESSION   NP_001381504
VERSION     NP_001381504.1
DBSOURCE    REFSEQ: accession NM_001394575.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 553)
  AUTHORS   Liu XM, Zhang YP, Ji SY, Li BT, Tian X, Li D, Tong C and Fan HY.
  TITLE     Mitoguardin-1 and -2 promote maturation and the developmental
            potential of mouse oocytes by maintaining mitochondrial dynamics
            and functions
  JOURNAL   Oncotarget 7 (2), 1155-1167 (2016)
   PUBMED   26716412
REFERENCE   2  (residues 1 to 553)
  AUTHORS   Zhang Y, Liu X, Bai J, Tian X, Zhao X, Liu W, Duan X, Shang W, Fan
            HY and Tong C.
  TITLE     Mitoguardin Regulates Mitochondrial Fusion through MitoPLD and Is
            Required for Neuronal Homeostasis
  JOURNAL   Mol Cell 61 (1), 111-124 (2016)
   PUBMED   26711011
  REMARK    GeneRIF: Propose that MIGA proteins promote mitochondrial fusion by
            regulating mitochondrial phospholipid metabolism via MitoPLD.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC114487.2 and AC138392.2.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..553
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     Protein         1..553
                     /product="mitoguardin 1 isoform 9"
                     /note="protein FAM73A; family with sequence similarity 73,
                     member A"
                     /calculated_mol_wt=62127
     Region          27..489
                     /region_name="Miga"
                     /note="Mitoguardin; pfam10265"
                     /db_xref="CDD:431183"
     CDS             1..553
                     /gene="MIGA1"
                     /gene_synonym="FAM73A"
                     /coded_by="NM_001394575.1:179..1840"
                     /note="isoform 9 is encoded by transcript variant 15"
                     /db_xref="GeneID:374986"
                     /db_xref="HGNC:HGNC:24741"
                     /db_xref="MIM:616773"
ORIGIN      
        1 mseetvsesq fslktaalrv fdlpltwyys lsqikfspva kklfvvtavs aisviflahh
       61 fkrkrgkkkg kilpwepehl ileytkraas dkgsscsssr qnltlslsst kdkgsqvcny
      121 angglfskys gsaqslasvq svnschscac gnsnswdkad eddiklvnip vttpenlylm
      181 gmelfeealr rweqaltfrn rqaedeacgs iklgagdaia eenvddiist efihkleall
      241 qrayrlqeef eatlgasdpn sladdidkdt ditmkgnved fglrdtlsia stdsfasaae
      301 laehrevrht ysleslchcp fyeeamhlve egkiysrvlr temleclgds dflaklhcir
      361 qafqvilses anriflaesg rkilsalivk arknpkkfed vfdemiyfle qtdhwgstem
      421 elaargvknl nfydvvldfi lmdsfedlen pptsiqnvvn nrwlnssfke tavasscwsv
      481 lkqkrqqmkt eshsvaqagv qwhdlsslqp lpprfkrffc lslssswdyr rlppcpanly
      541 ifgkdgvssc wpg
//
LOCUS       NP_001381443             885 aa            linear   PRI 31-DEC-2022
DEFINITION  general transcription factor 3C polypeptide 2 isoform e [Homo
            sapiens].
ACCESSION   NP_001381443
VERSION     NP_001381443.1
DBSOURCE    REFSEQ: accession NM_001394514.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 885)
  AUTHORS   Peng F, Zhou Y, Wang J, Guo B, Wei Y, Deng H, Wu Z, Zhang C, Shi K,
            Li Y, Wang X, Shore P, Zhao S and Deng W.
  TITLE     The transcription factor Sp1 modulates RNA polymerase III gene
            transcription by controlling BRF1 and GTF3C2 expression in human
            cells
  JOURNAL   J Biol Chem 295 (14), 4617-4630 (2020)
   PUBMED   32115405
  REMARK    GeneRIF: The transcription factor Sp1 modulates RNA polymerase III
            gene transcription by controlling BRF1 and GTF3C2 expression in
            human cells.
REFERENCE   2  (residues 1 to 885)
  AUTHORS   Kantidakis T, Ramsbottom BA, Birch JL, Dowding SN and White RJ.
  TITLE     mTOR associates with TFIIIC, is found at tRNA and 5S rRNA genes,
            and targets their repressor Maf1
  JOURNAL   Proc Natl Acad Sci U S A 107 (26), 11823-11828 (2010)
   PUBMED   20543138
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2012 Jul 10;109(28):11465]
REFERENCE   3  (residues 1 to 885)
  AUTHORS   Dumay-Odelot H, Marck C, Durrieu-Gaillard S, Lefebvre O, Jourdain
            S, Prochazkova M, Pflieger A and Teichmann M.
  TITLE     Identification, molecular cloning, and characterization of the
            sixth subunit of human transcription factor TFIIIC
  JOURNAL   J Biol Chem 282 (23), 17179-17189 (2007)
   PUBMED   17409385
REFERENCE   4  (residues 1 to 885)
  AUTHORS   Beausoleil SA, Villen J, Gerber SA, Rush J and Gygi SP.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
REFERENCE   5  (residues 1 to 885)
  AUTHORS   Innes F, Ramsbottom B and White RJ.
  TITLE     A test of the model that RNA polymerase III transcription is
            regulated by selective induction of the 110 kDa subunit of TFIIIC
  JOURNAL   Nucleic Acids Res 34 (11), 3399-3407 (2006)
   PUBMED   16822860
  REMARK    GeneRIF: Evidence against the model that pol III transcription can
            be effectively modulated through the specific induction of
            TFIIIC110.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 885)
  AUTHORS   Wang Z and Roeder RG.
  TITLE     DNA topoisomerase I and PC4 can interact with human TFIIIC to
            promote both accurate termination and transcription reinitiation by
            RNA polymerase III
  JOURNAL   Mol Cell 1 (5), 749-757 (1998)
   PUBMED   9660958
REFERENCE   7  (residues 1 to 885)
  AUTHORS   Oettel S, Hartel F, Kober I, Iben S and Seifart KH.
  TITLE     Human transcription factors IIIC2, IIIC1 and a novel component
            IIIC0 fulfil different aspects of DNA binding to various pol III
            genes
  JOURNAL   Nucleic Acids Res 25 (12), 2440-2447 (1997)
   PUBMED   9171097
REFERENCE   8  (residues 1 to 885)
  AUTHORS   Chu WM, Wang Z, Roeder RG and Schmid CW.
  TITLE     RNA polymerase III transcription repressed by Rb through its
            interactions with TFIIIB and TFIIIC2
  JOURNAL   J Biol Chem 272 (23), 14755-14761 (1997)
   PUBMED   9169441
REFERENCE   9  (residues 1 to 885)
  AUTHORS   Sinn,E., Wang,Z., Kovelman,R. and Roeder,R.G.
  TITLE     Cloning and characterization of a TFIIIC2 subunit (TFIIIC beta)
            whose presence correlates with activation of RNA polymerase
            III-mediated transcription by adenovirus E1A expression and serum
            factors
  JOURNAL   Genes Dev 9 (6), 675-685 (1995)
   PUBMED   7729686
REFERENCE   10 (residues 1 to 885)
  AUTHORS   Jang KL, Collins MK and Latchman DS.
  TITLE     The human immunodeficiency virus tat protein increases the
            transcription of human Alu repeated sequences by increasing the
            activity of the cellular transcription factor TFIIIC
  JOURNAL   J Acquir Immune Defic Syndr (1988) 5 (11), 1142-1147 (1992)
   PUBMED   1403646
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC074117.7, AC109828.4 and AC013413.6.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..885
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     Protein         1..885
                     /product="general transcription factor 3C polypeptide 2
                     isoform e"
                     /note="general transcription factor 3C polypeptide 2;
                     TFIIIC 110 kDa subunit; transcription factor IIIC subunit
                     beta; transcription factor IIIC 110 kDa subunit; general
                     transcription factor IIIC, polypeptide 2, beta 110kDa"
                     /calculated_mol_wt=97183
     Region          <62..255
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     Region          444..517
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          532..569
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <533..618
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          590..630
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..885
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /coded_by="NM_001394514.1:51..2708"
                     /note="isoform e is encoded by transcript variant 15"
                     /db_xref="GeneID:2976"
                     /db_xref="HGNC:HGNC:4665"
                     /db_xref="MIM:604883"
ORIGIN      
        1 mdtcgvgyva lgeagpvgnm tvvdspgqev lnqldvktss emtsaeasve mslptplpgf
       61 edspdqrrlp peqeslsrle qpdlssemsk vskpraskpg rkrggrtrkg pkrpqqpnpp
      121 saplvpglld qsnplstpmp kkrgrkskae llllklskdl drpesqspkr ppedfetpsg
      181 erprrraaqv allylqelae elstalpapv scpegpkvss ptkpkkirqp aacpggeevd
      241 gaprdedffl qveaedvees egpsesssep epvvprstpr gstsgkqkph crgmapnglp
      301 nhimapvwkc lhltkdfeaa pylpqeeksp lfsvqreglp edgtlyrinr fssitahper
      361 wdvsfftggp lwaldwcpvp egagasqyva lfsspdmnet hplsqlhsgp gllqlwglgt
      421 lqqescpgnr ahfvygiacd ngciwdlkfc psgawelpgt prkapllprl gllalacsdg
      481 kvllfslphp eallaqqppd avkpaiykvq cvatlqvgsm qatdpsecgq clslawmptr
      541 phqhlaagyy ngmvvfwnlp tnsplqrirl sdgslklypf qcflahdqav rtlqwckans
      601 hflvsagsdr kikfwdlrrp yepinsikrf lstelawllp yngvtvaqdn cyasyglcgi
      661 hyidagylgf kayftaprkg tvwslsgsdw lgtiaagdis geliaailpd malnpinvkr
      721 pverrfpiyk adlipyqdsp egpdhssass gvpnppkart ytetvnhhyl lfqdtdlgsf
      781 hdllrrepml rmqegeghsq lcldrlqlea ihkvrfspnl dsygwlvsgg qsglvrihfv
      841 rglasplghr mqlesrahfn amfqpssptr rpgfsptshr llptp
//
LOCUS       NP_001400216             227 aa            linear   PRI 01-JAN-2023
DEFINITION  CD63 antigen isoform E [Homo sapiens].
ACCESSION   NP_001400216
VERSION     NP_001400216.1
DBSOURCE    REFSEQ: accession NM_001413287.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 227)
  AUTHORS   Nazli A, Chow R, Zahoor MA, Workenhe ST, Dhawan T, Verschoor C and
            Kaushic C.
  TITLE     LAMP3/CD63 Expression in Early and Late Endosomes in Human Vaginal
            Epithelial Cells Is Associated with Enhancement of HSV-2 Infection
  JOURNAL   J Virol 96 (23), e0155322 (2022)
   PUBMED   36350153
  REMARK    GeneRIF: LAMP3/CD63 Expression in Early and Late Endosomes in Human
            Vaginal Epithelial Cells Is Associated with Enhancement of HSV-2
            Infection.
REFERENCE   2  (residues 1 to 227)
  AUTHORS   Duch P, Diaz-Valdivia N, Ikemori R, Gabasa M, Radisky ES, Arshakyan
            M, Gea-Sorli S, Mateu-Bosch A, Bragado P, Carrasco JL, Mori H,
            Ramirez J, Teixido C, Reguart N, Fillat C, Radisky DC and Alcaraz
            J.
  TITLE     Aberrant TIMP-1 overexpression in tumor-associated fibroblasts
            drives tumor progression through CD63 in lung adenocarcinoma
  JOURNAL   Matrix Biol 111, 207-225 (2022)
   PUBMED   35787446
  REMARK    GeneRIF: Aberrant TIMP-1 overexpression in tumor-associated
            fibroblasts drives tumor progression through CD63 in lung
            adenocarcinoma.
REFERENCE   3  (residues 1 to 227)
  AUTHORS   Odaka H, Hiemori K, Shimoda A, Akiyoshi K and Tateno H.
  TITLE     CD63-positive extracellular vesicles are potential diagnostic
            biomarkers of pancreatic ductal adenocarcinoma
  JOURNAL   BMC Gastroenterol 22 (1), 153 (2022)
   PUBMED   35350978
  REMARK    GeneRIF: CD63-positive extracellular vesicles are potential
            diagnostic biomarkers of pancreatic ductal adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 227)
  AUTHORS   Gao S, Jia S, Fan X, Gao C, Li Q, Wu Y and Meng C.
  TITLE     A potential target gene CD63 for different degrees of
            intervertebral disc degeneration
  JOURNAL   Sci Rep 12 (1), 957 (2022)
   PUBMED   35046480
  REMARK    GeneRIF: A potential target gene CD63 for different degrees of
            intervertebral disc degeneration.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 227)
  AUTHORS   Hotta H, Miyamoto H, Hara I, Takahashi N and Homma M.
  TITLE     Genomic structure of the ME491/CD63 antigen gene and functional
            analysis of the 5'-flanking regulatory sequences
  JOURNAL   Biochem Biophys Res Commun 185 (1), 436-442 (1992)
   PUBMED   1599482
REFERENCE   6  (residues 1 to 227)
  AUTHORS   Wang MX, Earley JJ Jr, Shields JA and Donoso LA.
  TITLE     An ocular melanoma-associated antigen. Molecular characterization
  JOURNAL   Arch Ophthalmol 110 (3), 399-404 (1992)
   PUBMED   1339263
REFERENCE   7  (residues 1 to 227)
  AUTHORS   Fukami MH.
  TITLE     Isolation of dense granules from human platelets
  JOURNAL   Methods Enzymol 215, 36-42 (1992)
   PUBMED   1435334
REFERENCE   8  (residues 1 to 227)
  AUTHORS   Horejsi V and Vlcek C.
  TITLE     Novel structurally distinct family of leucocyte surface
            glycoproteins including CD9, CD37, CD53 and CD63
  JOURNAL   FEBS Lett 288 (1-2), 1-4 (1991)
   PUBMED   1879540
  REMARK    Review article
REFERENCE   9  (residues 1 to 227)
  AUTHORS   Metzelaar MJ, Wijngaard PL, Peters PJ, Sixma JJ, Nieuwenhuis HK and
            Clevers HC.
  TITLE     CD63 antigen. A novel lysosomal membrane glycoprotein, cloned by a
            screening procedure for intracellular antigens in eukaryotic cells
  JOURNAL   J Biol Chem 266 (5), 3239-3245 (1991)
   PUBMED   1993697
REFERENCE   10 (residues 1 to 227)
  AUTHORS   Rapp G, Freudenstein J, Klaudiny J, Mucha J, Wempe F, Zimmer M and
            Scheit KH.
  TITLE     Characterization of three abundant mRNAs from human ovarian
            granulosa cells
  JOURNAL   DNA Cell Biol 9 (7), 479-485 (1990)
   PUBMED   2171551
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009779.18.
            
            Summary: The protein encoded by this gene is a member of the
            transmembrane 4 superfamily, also known as the tetraspanin family.
            Most of these members are cell-surface proteins that are
            characterized by the presence of four hydrophobic domains. The
            proteins mediate signal transduction events that play a role in the
            regulation of cell development, activation, growth and motility.
            The encoded protein is a cell surface glycoprotein that is known to
            complex with integrins. It may function as a blood platelet
            activation marker. Deficiency of this protein is associated with
            Hermansky-Pudlak syndrome. Also this gene has been associated with
            tumor progression. Alternative splicing results in multiple
            transcript variants encoding different protein isoforms. [provided
            by RefSeq, Apr 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.2883170.1,
                                           SRR14243140.11137618.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..227
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     Protein         1..227
                     /product="CD63 antigen isoform E"
                     /note="CD63 antigen (melanoma 1 antigen); ocular
                     melanoma-associated antigen; melanoma-associated antigen
                     ME491; lysosome-associated membrane glycoprotein 3; limp1;
                     lysosome integral membrane protein 1; granulophysin;
                     melanoma-associated antigen MLA1; tetraspanin-30;
                     tspan-30; lysosomal-associated membrane protein 3"
                     /calculated_mol_wt=24308
     Region          15..218
                     /region_name="Tetraspannin"
                     /note="Tetraspanin family; pfam00335"
                     /db_xref="CDD:425616"
     Region          94..192
                     /region_name="CD63_LEL"
                     /note="Tetraspanin, extracellular domain or large
                     extracellular loop (LEL), CD63 family. Tetraspanins are
                     trans-membrane proteins with 4 trans-membrane segments.
                     Both the N- and C-termini lie on the intracellular side of
                     the membrane. This alignment model spans...; cd03166"
                     /db_xref="CDD:239419"
     Site            order(95,100,104,106..107,110,124,127..128,131..132)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:239419"
     CDS             1..227
                     /gene="CD63"
                     /gene_synonym="LAMP-3; ME491; MLA1; OMA81H; TSPAN30"
                     /coded_by="NM_001413287.1:92..775"
                     /note="isoform E is encoded by transcript variant 17"
                     /db_xref="GeneID:967"
                     /db_xref="HGNC:HGNC:1692"
                     /db_xref="MIM:155740"
ORIGIN      
        1 mcevlalrpp aglllgliav gvgaqlvlsq tiiqgatpgs llpvviiavg vflflvafvg
       61 ccgackenyc lmitfaifls limlvevaaa iagyvfrdkv msefnnnfrq qmenypknnh
      121 tasildrmqa dfkccgaany tdwekipsms knrvpdscci nvtvgcginf nekaihkegc
      181 vekiggwlrk nvlvvaaaal giafvevlgi vfacclvksi rsgyevm
//
LOCUS       NP_001373029            5491 aa            linear   PRI 14-FEB-2023
DEFINITION  dystonin isoform 9 [Homo sapiens].
ACCESSION   NP_001373029
VERSION     NP_001373029.1
DBSOURCE    REFSEQ: accession NM_001386100.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 5491)
  AUTHORS   Ujiie H.
  TITLE     What's new in the pathogeneses and triggering factors of bullous
            pemphigoid
  JOURNAL   J Dermatol 50 (2), 140-149 (2023)
   PUBMED   36412277
  REMARK    GeneRIF: What's new in the pathogeneses and triggering factors of
            bullous pemphigoid.
            Review article
REFERENCE   2  (residues 1 to 5491)
  AUTHORS   Khalesi R, Harvey N, Garshasbi M, Kalamati E, Youssefian L,
            Vahidnezhad H and Uitto J.
  TITLE     Pathogenic DST sequence variants result in either epidermolysis
            bullosa simplex (EBS) or hereditary sensory and autonomic
            neuropathy type 6 (HSAN-VI)
  JOURNAL   Exp Dermatol 31 (6), 949-955 (2022)
   PUBMED   35276021
  REMARK    GeneRIF: Pathogenic DST sequence variants result in either
            epidermolysis bullosa simplex (EBS) or hereditary sensory and
            autonomic neuropathy type 6 (HSAN-VI).
REFERENCE   3  (residues 1 to 5491)
  AUTHORS   Wen D, Balacco DL, Bardhan A, Harper N, Walsh D, Ryan G, Liu L, Guy
            A, McGrath JA, Ogboli M and Heagerty AHM.
  TITLE     Localized autosomal recessive epidermolysis bullosa simplex arising
            from a novel homozygous frameshift mutation in DST (BPAG1)
  JOURNAL   Clin Exp Dermatol 47 (2), 497-502 (2022)
   PUBMED   34806203
REFERENCE   4  (residues 1 to 5491)
  AUTHORS   Steiner-Champliaud MF, Schneider Y, Favre B, Paulhe F,
            Praetzel-Wunder S, Faulkner G, Konieczny P, Raith M, Wiche G,
            Adebola A, Liem RK, Langbein L, Sonnenberg A, Fontao L and
            Borradori L.
  TITLE     BPAG1 isoform-b: complex distribution pattern in striated and heart
            muscle and association with plectin and alpha-actinin
  JOURNAL   Exp Cell Res 316 (3), 297-313 (2010)
   PUBMED   19932097
  REMARK    GeneRIF: BPAG1-b was detectable in vitro and in vivo as a high
            molecular mass protein in striated and heart muscle cells,
            co-localizing with alpha-actinin-2 and partially with the
            cytolinker plectin as well as with the intermediate filament
            protein desmin.
REFERENCE   5  (residues 1 to 5491)
  AUTHORS   Okumura M, Yamakawa H, Ohara O and Owaribe K.
  TITLE     Novel alternative splicings of BPAG1 (bullous pemphigoid antigen 1)
            including the domain structure closely related to MACF (microtubule
            actin cross-linking factor)
  JOURNAL   J Biol Chem 277 (8), 6682-6687 (2002)
   PUBMED   11751855
REFERENCE   6  (residues 1 to 5491)
  AUTHORS   Brown A, Dalpe G, Mathieu M and Kothary R.
  TITLE     Cloning and characterization of the neural isoforms of human
            dystonin
  JOURNAL   Genomics 29 (3), 777-780 (1995)
   PUBMED   8575775
REFERENCE   7  (residues 1 to 5491)
  AUTHORS   So,J.Y. and Teng,J.
  TITLE     Epidermolysis Bullosa Simplex
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301543
REFERENCE   8  (residues 1 to 5491)
  AUTHORS   Sawamura D, Li K, Chu ML and Uitto J.
  TITLE     Human bullous pemphigoid antigen (BPAG1). Amino acid sequences
            deduced from cloned cDNAs predict biologically important peptide
            segments and protein domains
  JOURNAL   J Biol Chem 266 (27), 17784-17790 (1991)
   PUBMED   1717441
REFERENCE   9  (residues 1 to 5491)
  AUTHORS   Tanaka T, Parry DA, Klaus-Kovtun V, Steinert PM and Stanley JR.
  TITLE     Comparison of molecularly cloned bullous pemphigoid antigen to
            desmoplakin I confirms that they define a new family of cell
            adhesion junction plaque proteins
  JOURNAL   J Biol Chem 266 (19), 12555-12559 (1991)
   PUBMED   1712022
REFERENCE   10 (residues 1 to 5491)
  AUTHORS   Sawamura D, Nomura K, Sugita Y, Mattei MG, Chu ML, Knowlton R and
            Uitto J.
  TITLE     Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the
            gene to the short arm of human chromosome 6
  JOURNAL   Genomics 8 (4), 722-726 (1990)
   PUBMED   2276744
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL512422.19, AL590005.6,
            AL096710.8, AL512448.9 and AL137008.9.
            
            Summary: This gene encodes a member of the plakin protein family of
            adhesion junction plaque proteins. Multiple alternatively spliced
            transcript variants encoding distinct isoforms have been found for
            this gene, but the full-length nature of some variants has not been
            defined. It has been reported that some isoforms are expressed in
            neural and muscle tissue, anchoring neural intermediate filaments
            to the actin cytoskeleton, and some isoforms are expressed in
            epithelial tissue, anchoring keratin-containing intermediate
            filaments to hemidesmosomes. Consistent with the expression, mice
            defective for this gene show skin blistering and neurodegeneration.
            [provided by RefSeq, Mar 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..5491
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.1"
     Protein         1..5491
                     /product="dystonin isoform 9"
                     /note="hemidesmosomal plaque protein; trabeculin-beta;
                     dystonia musculorum protein; bullous pemphigoid antigen;
                     bullous pemphigoid antigen 1"
                     /calculated_mol_wt=628952
     Region          20..147
                     /region_name="CH_DYST_rpt1"
                     /note="first calponin homology (CH) domain found in
                     dystonin and similar proteins; cd21236"
                     /db_xref="CDD:409085"
     Site            order(37,41,91,93..94,97..98,100,109..117,122,124..125,
                     127..128,131..132,135)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409085"
     Region          152..255
                     /region_name="CH_DYST_rpt2"
                     /note="second calponin homology (CH) domain found in
                     dystonin and similar proteins; cd21239"
                     /db_xref="CDD:409088"
     Site            order(153,157,207,209..210,213..214,216,224..232,239,
                     241..242,244..245,248..249,252)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409088"
     Region          608..699
                     /region_name="SPEC"
                     /note="Spectrin repeats; smart00150"
                     /db_xref="CDD:197544"
     Region          701..883
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            804..809
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          876..942
                     /region_name="SH3_10"
                     /note="SH3 domain; pfam17902"
                     /db_xref="CDD:407754"
     Region          977..1054
                     /region_name="Spectrin_like"
                     /note="Spectrin like domain; pfam18373"
                     /db_xref="CDD:436447"
     Region          <1071..1269
                     /region_name="SCP-1"
                     /note="Synaptonemal complex protein 1 (SCP-1); pfam05483"
                     /db_xref="CDD:114219"
     Region          <1177..1813
                     /region_name="SCP-1"
                     /note="Synaptonemal complex protein 1 (SCP-1); pfam05483"
                     /db_xref="CDD:114219"
     Region          1508..2334
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          1838..2067
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1956..1961
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          2428..2649
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            2537..2542
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          2654..2868
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            order(2758,2760..2764)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          2870..3081
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Site            2974..2979
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          3196..3411
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            3304..3309
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          3310..3523
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            3413..3418
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          3417..3632
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            3522..3527
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          3634..3849
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            order(3740,3742..3746)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          3745..3958
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            3849..3854
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          3855..4071
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            order(3957..3961,3963)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          4073..4290
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            4179..4184
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          4185..4399
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            order(4289..4293,4295)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          4293..4508
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            4398..4403
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          4401..4617
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            order(4507..4510,4512..4513)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          4619..4835
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            4726..4731
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          4732..4944
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            4834..4839
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          5115..5177
                     /region_name="EFh"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     cd00051"
                     /db_xref="CDD:238008"
     Site            order(5124,5126,5128,5135,5160,5162,5164,5171)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238008"
     Region          5190..5262
                     /region_name="GAS2"
                     /note="Growth-Arrest-Specific Protein 2 Domain;
                     smart00243"
                     /db_xref="CDD:128539"
     CDS             1..5491
                     /gene="DST"
                     /gene_synonym="BP240; BPA; BPAG1; CATX-15; CATX15;
                     D6S1101; DMH; DT; EBS3; EBSB2; HSAN6; MACF2"
                     /coded_by="NM_001386100.1:503..16978"
                     /note="isoform 9 is encoded by transcript variant 9"
                     /db_xref="GeneID:667"
                     /db_xref="HGNC:HGNC:1090"
                     /db_xref="MIM:113810"
ORIGIN      
        1 magylspaay lyveeqeylq ayedvleryk derdkvqkkt ftkwinqhlm kvrkhvndly
       61 edlrdghnli sllevlsgdt lprekgrmrf hrlqnvqial dylkrrqvkl vnirndditd
      121 gnpkltlgli wtiilhfqis dihvtgesed msakerlllw tqqategyag ircenfttcw
      181 rdgklfnaii hkyrpdlidm ntvavqsnla nlehafyvae kigvirlldp edvdvsspde
      241 ksvityvssl ydafpkvpeg gegigandve vkwieyqnmv nyliqwirhh vttmsertfp
      301 nnpvelkaly nqylqfkete ippketeksk ikrlykllei wiefgrikll qgyhpndiek
      361 ewgkliiaml erekalrpev erlemlqqia nrvqrdsvic edklilagna lqsdskrles
      421 gvqfqneaei agyilecenl lrqhvidvqi lidgkyyqad qlvqrvaklr deimalrnec
      481 ssvyskgril tteqtklmis gitqslnsgf aqtlhpslts gltqsltpsl tsssmtsgls
      541 sgmtsrltps vtpaytpgfp sglvpnfssg vepnslqtlk lmqirkpllk sslldqnlte
      601 eeinmkfvqd llnwvdemqv qldrtewgsd lpsveshlen hknvhraiee fesslkeaki
      661 seiqmtaplk ltyaeklhrl esqyakllnt srnqerhldt lhnfvsratn eliwlnekee
      721 eevaydwser ntniarkkdy haelmreldq keeniksvqe iaeqlllenh parltieayr
      781 aamqtqwswi lqlcqcveqh ikentayfef fndakeatdy lrnlkdaiqr kyscdrsssi
      841 hkledlvqes meekeellqy kstianlmgk aktiiqlkpr nsdcplktsi pikaicdyrq
      901 ieitiykdde cvlannshra kwkvisptgn eamvpsvcft vpppnkeavd lanrieqqyq
      961 nvltlwhesh inmksvvswh ylineidrir asnvasiktm lpgehqqvls nlqsrfedfl
     1021 edsqesqvfs gsditqleke vnvckqyyqe llksaereeq eesvynlyis evrnirlrle
     1081 ncedrlirqi rtplerddlh esvfriteqe klkkelerlk ddlgtitnkc eeffsqaaas
     1141 ssvptlrsel nvvlqnmnqv ysmsstyidk lktvnlvlkn tqaaealvkl yetklceeea
     1201 viadknnien listlkqwrs evdekrqvfh aledelqkak aisdemfkty kerdldfdwh
     1261 kekadqlver wqnvhvqidn rlrdlegigk slkyyrdtyh plddwiqqve ttqrkiqenq
     1321 pensktlatq lnqqkmlvse iemkqskmde cqkyaeqysa tvkdyelqtm tyramvdsqq
     1381 kspvkrrrmq ssadliiqef mdlrtrytal vtlmtqyikf agdslkrlee eeksleeekk
     1441 ehvekakelq kwvsnisktl kdaekagkpp fskqkissee istkkeqlse alqtiqlfla
     1501 khgdkmtdee rnelekqvkt lqesynllfs eslkqlqesq tsgdvkveek ivaerqqeyk
     1561 eklqgicdll tqtenrligh qeafmigdgt velkkyqskq eelqkdmqgs aqalaevvkn
     1621 tenflkenge klsqedkali eqklneakik ceqlnlkaeq skkeldkvvt taikeetekv
     1681 aavkqleesk tkienlldwl snvdkdsera gtkhkqvieq ngthfqegdg ksaigeedev
     1741 ngnlletdvd gqvgttqenl nqqyqkvkaq hekiisqhqa viiatqsaqv llekqgqyls
     1801 peekeklqkn mkelkvhyet alaesekkmk lthslqeele kfdadytefe hwlqqseqel
     1861 enleagaddi nglmtklkrq ksfsedvish kgdlryitis gnrvleaaks cskrdggkvd
     1921 tsathrevqr kldhatdrfr slyskcnvlg nnlkdlvdky qhyedascgl laglqaceat
     1981 askhlsepia vdpknlqrql eetkalqgqi ssqqvavekl kktaevllda rgsllpaknd
     2041 iqktlddivg ryedlsksvn erneklqitl trslsvqdgl demldwmgnv esslkeqgqv
     2101 plnstalqdi isknimleqd iagrqssina mnekvkkfme ttdpstassl qakmkdlsar
     2161 fseashkhke tlakmeelkt kvelfenlse klqtfletkt qaltevdvpg kdvtelsqym
     2221 qestsefleh kkhlevlhsl lkeisshglp sdkalvlekt nnlskkfkem edtikekkea
     2281 vtscqeqlda fqvlvkslks wikettkkvp ivqpsfgaed lgksledtkk lqekwslktp
     2341 eiqkvnnsgi slcnlisavt tpakaiaavk sggavlngeg tatnteefwa nkgltsikkd
     2401 mtdishgyed lglllkdkia elntklsklq kaqeessamm qwlqkmnkta tkwqqtpapt
     2461 dteavktqve qnksfeaelk qnvnkvqelk dkltelleen pdtpeaprwk qmlteidskw
     2521 qelnqltidr qqkleessnn ltqfqtveaq lkqwlvekel mvsvlgplsi dpnmlntqrq
     2581 qvqillqefa trkpqyeqlt aagqgilsrp gedpslrgiv keqlaavtqk wdsltgqlsd
     2641 rcdwidqaiv kstqyqsllr slsdklsdld nklssslavs thpdamnqql etaqkmkqei
     2701 qqekkqikva qalcedlsal vkeeylkael srqlegilks fkdveqkaen hvqhlqsaca
     2761 sshqfqqmsr dfqawldtkk eeqnkshpis akldvlesli kdhkdfsktl taqshmyekt
     2821 iaegenlllk tqgsekaalq lqlntiktnw dtfnkqvker enklkeslek alkykeqvet
     2881 lwpwidkcqn nleeikfcld paegensiak lkslqkemdq hfgmvellnn tansllsvce
     2941 idkevvtden ksliqkvdmv teqlhskkfc lenmtqkfke fqevskeskr qlqcakeqld
     3001 ihdslgsqay snkyltmlqt qqkslqalkh qvdlakrlaq dlvveasdsk gtsdvllqve
     3061 tiaqehstls qqvdekcsfl etklqgighf qntiremfsq faefddelds mapvgrdaet
     3121 lqkqketika flkklealma sndnanktck mmlateetsp dlvgikrdle alskqcnkll
     3181 draqareeqv egtikrleef ysklkefsil lqkaeehees qgpvgmetet inqqlnmfkv
     3241 fqkeeieplq gkqqdvnwlg qgliqsaaks tstqglehdl ddvnarwktl nkkvaqraaq
     3301 lqeallhcgr fqdaleslls wmvdteelva nqkppsaefk vvkaqiqeqk llqrllddrk
     3361 stvevikreg ekiattaepa dkvkilkqls lldsrweall nkaetrnrql egisvvaqqf
     3421 hetleplnew lttiekrlvn cepigtqask leeqiaqhka leddiinhnk hlhqavsigq
     3481 slkvlssred kdmvqskldf sqvwyieiqe kshsrsellq qalcnakifg edevelmnwl
     3541 nevhdklskl svqdystegl wkqqselrvl qedillrkqn vdqallngle llkqttgdev
     3601 liiqdkleai karykditkl stdvaktleq alqlarrlhs theelctwld kvevellsye
     3661 tqvlkgeeas qaqmrpkelk keaknnkall dslnevssal lelvpwrare glekmvaedn
     3721 eryrlvsdti tqkveeidaa ilrsqqfdqa adaelswite tekklmslgd irleqdqtsa
     3781 qlqvqktftm eilrhkdiid dlvksghkim tacseeekqs mkkkldkvlk nydticqins
     3841 erylqleraq slvnqfwety eelwpwltet qsiisqlpap aleyetlrqq qeehrqlrel
     3901 iaehkphidk mnktgpqlle lspgegfsiq ekyvaadtly sqikedvkkr avaldeaisq
     3961 stqfhdkidq ileslerive rlrqppsisa evekikeqis enknvsvdme klqplyetlk
     4021 qrgeemiars ggtdkdisak avqdkldqmv fiwenihtlv eereaklldv melaekfwcd
     4081 hmslivtikd tqdfirdled pgidpsvvkq qqeaaetire eidglqeeld ivinlgseli
     4141 aacgepdkpi vkksidelns awdslnkawk dridkleeam qaavqyqdgl qavfdwvdia
     4201 ggklasmspi gtdletvkqq ieelkqfkse ayqqqiemer lnhqaelllk kvteesdkht
     4261 vqdplmelkl iwdsleerii nrqhklegal lalgqfqhal dellawltht egllseqkpv
     4321 ggdpkaieie lakhhvlqnd vlahqstvea vnkagndlie ssageeasnl qnklevlnqr
     4381 wqnvlekteq rkqqldgalr qakgfhgeie dlqqwltdte rhllaskplg glpetakeql
     4441 nvhmevcaaf eakeetyksl mqkgqqmlar cpksaetnid qdinnlkekw esvetklner
     4501 ktkleealnl amefhnslqd finwltqaeq tlnvasrpsl ildtvlfqid ehkvfanevn
     4561 shreqiield ktgthlkyfs qkqdvvlikn llisvqsrwe kvvqrlverg rslddarkra
     4621 kqfheawskl mewleeseks ldseleiand pdkiktqlaq hkefqkslga khsvydttnr
     4681 tgrslkekts laddnlkldd mlselrdkwd ticgksverq nkleeallfs gqftdalqal
     4741 idwlyrvepq laedqpvhgd idlvmnlidn hkafqkelgk rtssvqalkr sareliegsr
     4801 ddsswvkvqm qelstrwetv calsiskqtr leaalrqaee fhsvvhalle wlaeaeqtlr
     4861 fhgvlpdded alrtlidqhk efmkkleekr aelnkattmg dtvlaichpd sittikhwit
     4921 iirarfeevl awakqhqqrl asalagliak qelleallaw lqwaettltd kdkevipqei
     4981 eevkaliaeh qtfmeemtrk qpdvdkvtkt ykrraadpss lqshipvldk gragrkrfpa
     5041 sslypsgsqt qietknprvn llvskwqqvw llalerrrkl ndaldrleel refanfdfdi
     5101 wrkkymrwmn hkksrvmdff rridkdqdgk itrqefidgi lsskfptsrl emsavadifd
     5161 rdgdgyidyy efvaalhpnk daykpitdad kiedevtrqv akckcakrfq veqigdnkyr
     5221 fgdsqqlrlv rilrstvmvr vgggwmalde flvkndpcra kgrtnmelre kfiladgasq
     5281 gmaafrprgr rsrpssrgas pnrstsvssq aaqaaspqvp atttpkilhp ltrnygkpwl
     5341 tnskmstpck aaecsdfpvp saegtpiqgs klrlpgylsg kgfhsgedsg littaaarvr
     5401 tqfadskktp srpgsragsk agsrassrrg sdasdfdise iqsvcsdvet vpqthrptpr
     5461 agsrpstakp skiptpqrks paskldkssk r
//
LOCUS       NP_001273304            1169 aa            linear   PRI 19-FEB-2023
DEFINITION  integrin alpha-X isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001273304 XP_005255371
VERSION     NP_001273304.1
DBSOURCE    REFSEQ: accession NM_001286375.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1169)
  AUTHORS   Wang X, Guan Z, Tang W, Wang X, Xu C, Shan E, Wang W and Gao Y.
  TITLE     PAX5/ITGAX Contributed to the Progression of Atherosclerosis by
            Regulation of B Differentiation via TNF-alpha Signaling Pathway
  JOURNAL   DNA Cell Biol 42 (2), 97-104 (2023)
   PUBMED   36730754
  REMARK    GeneRIF: PAX5/ITGAX Contributed to the Progression of
            Atherosclerosis by Regulation of B Differentiation via TNF-alpha
            Signaling Pathway.
REFERENCE   2  (residues 1 to 1169)
  AUTHORS   Ni L, Li P, Li M, Huang S and Dang N.
  TITLE     SERPINB8 and furin regulate ITGAX expression and affect the
            proliferation and invasion of melanoma cells
  JOURNAL   Exp Dermatol 32 (1), 24-29 (2023)
   PUBMED   36134483
  REMARK    GeneRIF: SERPINB8 and furin regulate ITGAX expression and affect
            the proliferation and invasion of melanoma cells.
REFERENCE   3  (residues 1 to 1169)
  AUTHORS   Yuan CT, Chuang SS, Cheng PY, Chang K, Wang H, Tsai JH, Liau JY and
            Chou WC.
  TITLE     Decreased CD11c-positive dendritic cells in the tumor
            microenvironment predict double-hit/triple-hit genotype and
            survival in diffuse large B-cell lymphoma
  JOURNAL   J Pathol Clin Res 8 (5), 436-447 (2022)
   PUBMED   35715938
  REMARK    GeneRIF: Decreased CD11c-positive dendritic cells in the tumor
            microenvironment predict double-hit/triple-hit genotype and
            survival in diffuse large B-cell lymphoma.
REFERENCE   4  (residues 1 to 1169)
  AUTHORS   Yan S, Meng L, Guo X, Chen Z, Zhang Y and Li Y.
  TITLE     Identification of ITGAX and CCR1 as potential biomarkers of
            atherosclerosis via Gene Set Enrichment Analysis
  JOURNAL   J Int Med Res 50 (3), 3000605211039480 (2022)
   PUBMED   35287505
  REMARK    GeneRIF: Identification of ITGAX and CCR1 as potential biomarkers
            of atherosclerosis via Gene Set Enrichment Analysis.
REFERENCE   5  (residues 1 to 1169)
  AUTHORS   Nagy-Balo Z, Kiss R, Demeter J, Bodor C, Bajtay Z and Erdei A.
  TITLE     BCR activated CLL B cells use both CR3 (CD11b/CD18) and CR4
            (CD11c/CD18) for adhesion while CR4 has a dominant role in
            migration towards SDF-1
  JOURNAL   PLoS One 16 (7), e0254853 (2021)
   PUBMED   34283878
  REMARK    GeneRIF: BCR activated CLL B cells use both CR3 (CD11b/CD18) and
            CR4 (CD11c/CD18) for adhesion while CR4 has a dominant role in
            migration towards SDF-1.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1169)
  AUTHORS   Gaidano G, Bergui L, Schena M, Gaboli M, Cremona O, Marchisio PC
            and Caligaris-Cappio F.
  TITLE     Integrin distribution and cytoskeleton organization in normal and
            malignant monocytes
  JOURNAL   Leukemia 4 (10), 682-687 (1990)
   PUBMED   1976870
REFERENCE   7  (residues 1 to 1169)
  AUTHORS   Corbi AL, Garcia-Aguilar J and Springer TA.
  TITLE     Genomic structure of an integrin alpha subunit, the leukocyte
            p150,95 molecule
  JOURNAL   J Biol Chem 265 (5), 2782-2788 (1990)
   PUBMED   2303426
  REMARK    Erratum:[J Biol Chem 1990 Jul 25;265(21):12750-1]
REFERENCE   8  (residues 1 to 1169)
  AUTHORS   Corbi AL, Larson RS, Kishimoto TK, Springer TA and Morton CC.
  TITLE     Chromosomal location of the genes encoding the leukocyte adhesion
            receptors LFA-1, Mac-1 and p150,95. Identification of a gene
            cluster involved in cell adhesion
  JOURNAL   J Exp Med 167 (5), 1597-1607 (1988)
   PUBMED   3284962
REFERENCE   9  (residues 1 to 1169)
  AUTHORS   Corbi AL, Miller LJ, O'Connor K, Larson RS and Springer TA.
  TITLE     cDNA cloning and complete primary structure of the alpha subunit of
            a leukocyte adhesion glycoprotein, p150,95
  JOURNAL   EMBO J 6 (13), 4023-4028 (1987)
   PUBMED   3327687
REFERENCE   10 (residues 1 to 1169)
  AUTHORS   Miller,L.J., Wiebe,M. and Springer,T.A.
  TITLE     Purification and alpha subunit N-terminal sequences of human Mac-1
            and p150,95 leukocyte adhesion proteins
  JOURNAL   J Immunol 138 (8), 2381-2383 (1987)
   PUBMED   3549901
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA324567.1, BC038237.1,
            AC093520.4 and AW014280.1.
            On Nov 2, 2013 this sequence version replaced XP_005255371.1.
            
            Summary: This gene encodes the integrin alpha X chain protein.
            Integrins are heterodimeric integral membrane proteins composed of
            an alpha chain and a beta chain. This protein combines with the
            beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred
            to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2
            complex seems to overlap the properties of the alpha M beta 2
            integrin in the adherence of neutrophils and monocytes to
            stimulated endothelium cells, and in the phagocytosis of complement
            coated particles. Two transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Nov
            2013].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC038237.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2146982
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1169
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     Protein         1..1169
                     /product="integrin alpha-X isoform 1 precursor"
                     /note="integrin, alpha X (antigen CD11C (p150), alpha
                     polypeptide); leukocyte surface antigen p150,95, alpha
                     subunit; leu M5, alpha subunit; myeloid membrane antigen,
                     alpha subunit; p150 95 integrin alpha chain; CD11
                     antigen-like family member C; integrin alpha X; leukocyte
                     adhesion receptor p150,95; leukocyte adhesion glycoprotein
                     p150,95 alpha chain; integrin, alpha X (complement
                     component 3 receptor 4 subunit)"
                     /calculated_mol_wt=126548
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2007
     mat_peptide     20..1169
                     /product="integrin alpha-X isoform 1"
                     /calculated_mol_wt=126548
     Region          23..78
                     /region_name="FG-GAP 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3)"
     Site            61
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20033057; propagated from
                     UniProtKB/Swiss-Prot (P20702.3)"
     Region          79..138
                     /region_name="FG-GAP 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3)"
     Site            89
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P20702.3)"
     Region          150..325
                     /region_name="vWA_integrins_alpha_subunit"
                     /note="Integrins are a class of adhesion receptors that
                     link the extracellular matrix to the cytoskeleton and
                     cooperate with growth factor receptors to promote celll
                     survival, cell cycle progression and cell migration.
                     Integrins consist of an alpha and a beta...; cd01469"
                     /db_xref="CDD:238746"
     Site            order(150,152,173,253,255,284,314)
                     /site_type="active"
                     /note="integrin inhibitor binding pocket [active]"
                     /db_xref="CDD:238746"
     Site            order(157,159,161,226,259)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238746"
     Site            order(159..161,163,226)
                     /site_type="active"
                     /note="integrin-collagen binding site [active]"
                     /db_xref="CDD:238746"
     Region          340..391
                     /region_name="FG-GAP 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3)"
     Region          392..443
                     /region_name="FG-GAP 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3)"
     Site            392
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20033057; propagated from
                     UniProtKB/Swiss-Prot (P20702.3)"
     Region          444..504
                     /region_name="FG-GAP 5.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3)"
     Region          454..504
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          507..565
                     /region_name="FG-GAP 6.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3)"
     Region          517..>558
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          570..630
                     /region_name="FG-GAP 7.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3)"
     Region          582..628
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          615..1032
                     /region_name="Integrin_alpha2"
                     /note="Integrin alpha; pfam08441"
                     /db_xref="CDD:430000"
     Site            697
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20033057; propagated from
                     UniProtKB/Swiss-Prot (P20702.3)"
     Site            735
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20033057; propagated from
                     UniProtKB/Swiss-Prot (P20702.3)"
     Site            899
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:20033057; propagated from
                     UniProtKB/Swiss-Prot (P20702.3)"
     Site            939
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P20702.3)"
     Site            1050
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P20702.3)"
     Site            1108..1128
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3)"
     Region          1129..1143
                     /region_name="Integrin_alpha"
                     /note="Integrin alpha cytoplasmic region; pfam00357"
                     /db_xref="CDD:395284"
     Region          1131..1135
                     /region_name="GFFKR motif"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3)"
     CDS             1..1169
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /coded_by="NM_001286375.2:80..3589"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS67014.1"
                     /db_xref="GeneID:3687"
                     /db_xref="HGNC:HGNC:6152"
                     /db_xref="MIM:151510"
ORIGIN      
        1 mtrtraalll ftalatslgf nldteeltaf rvdsagfgds vvqyanswvv vgapqkitaa
       61 nqtgglyqcg ystgacepig lqvppeavnm slglslastt spsqllacgp tvhhecgrnm
      121 yltglcfllg ptqltqrlpv srqecprqeq divflidgsg sissrnfatm mnfvravisq
      181 fqrpstqfsl mqfsnkfqth ftfeefrrss nplsllasvh qlqgftytat aiqnvvhrlf
      241 hasygarrda akilivitdg kkegdsldyk dvipmadaag iiryaigvgl afqnrnswke
      301 lndiaskpsq ehifkvedfd alkdiqnqlk ekifaiegte ttssssfele maqegfsavf
      361 tpdgpvlgav gsftwsggaf lyppnmsptf inmsqenvdm rdsylgyste lalwkgvqsl
      421 vlgapryqht gkaviftqvs rqwrmkaevt gtqigsyfga slcsvdvdsd gstdlvliga
      481 phyyeqtrgg qvsvcplprg wrrwwcdavl ygeqghpwgr fgaaltvlgd vngdkltdvv
      541 igapgeeenr gavylfhgvl gpsispshsq riagsqlssr lqyfgqalsg gqdltqdglv
      601 dlavgargqv lllrtrpvlw vgvsmqfipa eiprsafecr eqvvseqtlv qsniclyidk
      661 rsknllgsrd lqssvtldla ldpgrlspra tfqetknrsl srvrvlglka hcenfnlllp
      721 scvedsvtpi tlrlnftlvg kpllafrnlr pmlaadaqry ftaslpfekn cgadhicqdn
      781 lgisfsfpgl ksllvgsnle lnaevmvwnd gedsygttit fshpaglsyr yvaegqkqgq
      841 lrslhltcds apvgsqgtws tscrinhlif rggaqitfla tfdvspkavl gdrllltanv
      901 ssenntprts kttfqlelpv kyavytvvss heqftkylnf seseekeshv amhryqvnnl
      961 gqrdlpvsin fwvpvelnqe avwmdvevsh pqnpslrcss ekiappasdf lahiqknpvl
     1021 dcsiagclrf rcdvpsfsvq eeldftlkgn lsfgwvrqil qkkvsvvsva eitfdtsvys
     1081 qlpgqeafmr aqtttvleky kvhnptpliv gssiggllll alitavlykv gffkrqykem
     1141 meeangqiap engtqtpspp tphypqdnv
//
LOCUS       NP_001351994             258 aa            linear   PRI 26-FEB-2023
DEFINITION  adenosine receptor A1 isoform 2 [Homo sapiens].
ACCESSION   NP_001351994 XP_016855831
VERSION     NP_001351994.1
DBSOURCE    REFSEQ: accession NM_001365065.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 258)
  AUTHORS   Tzortzini E, Corey RA and Kolocouris A.
  TITLE     Comparative Study of Receptor-, Receptor State-, and
            Membrane-Dependent Cholesterol Binding Sites in A2A and A1
            Adenosine Receptors Using Coarse-Grained Molecular Dynamics
            Simulations
  JOURNAL   J Chem Inf Model 63 (3), 928-949 (2023)
   PUBMED   36637988
  REMARK    GeneRIF: Comparative Study of Receptor-, Receptor State-, and
            Membrane-Dependent Cholesterol Binding Sites in A2A and A1
            Adenosine Receptors Using Coarse-Grained Molecular Dynamics
            Simulations.
REFERENCE   2  (residues 1 to 258)
  AUTHORS   Sarasola LI, Del Torrent CL, Perez-Arevalo A, Argerich J,
            Casajuana-Martin N, Chevigne A, Fernandez-Duenas V, Ferre S, Pardo
            L and Ciruela F.
  TITLE     The ADORA1 mutation linked to early-onset Parkinson's disease
            alters adenosine A1-A2A receptor heteromer formation and function
  JOURNAL   Biomed Pharmacother 156, 113896 (2022)
   PUBMED   36279718
  REMARK    GeneRIF: The ADORA1 mutation linked to early-onset Parkinson's
            disease alters adenosine A1-A2A receptor heteromer formation and
            function.
REFERENCE   3  (residues 1 to 258)
  AUTHORS   Deluigi M, Morstein L, Schuster M, Klenk C, Merklinger L, Cridge
            RR, de Zhang LA, Klipp A, Vacca S, Vaid TM, Mittl PRE, Egloff P,
            Eberle SA, Zerbe O, Chalmers DK, Scott DJ and Pluckthun A.
  TITLE     Crystal structure of the alpha1B-adrenergic receptor reveals
            molecular determinants of selective ligand recognition
  JOURNAL   Nat Commun 13 (1), 382 (2022)
   PUBMED   35046410
  REMARK    GeneRIF: Crystal structure of the alpha1B-adrenergic receptor
            reveals molecular determinants of selective ligand recognition.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 258)
  AUTHORS   Pang L, Ng KT, Liu J, Yeung WO, Zhu J, Chiu TS, Liu H, Chen Z, Lo
            CM and Man K.
  TITLE     Plasmacytoid dendritic cells recruited by HIF-1alpha/eADO/ADORA1
            signaling induce immunosuppression in hepatocellular carcinoma
  JOURNAL   Cancer Lett 522, 80-92 (2021)
   PUBMED   34536555
  REMARK    GeneRIF: Plasmacytoid dendritic cells recruited by
            HIF-1alpha/eADO/ADORA1 signaling induce immunosuppression in
            hepatocellular carcinoma.
REFERENCE   5  (residues 1 to 258)
  AUTHORS   Tian D, Li J, Zou L, Lin M, Shi X, Hu Y, Lang J, Xu L, Ye W, Li X
            and Chen L.
  TITLE     Adenosine A1 Receptor Deficiency Aggravates Extracellular Matrix
            Accumulation in Diabetic Nephropathy through Disturbance of
            Peritubular Microenvironment
  JOURNAL   J Diabetes Res 2021, 5584871 (2021)
   PUBMED   34671682
  REMARK    GeneRIF: Adenosine A1 Receptor Deficiency Aggravates Extracellular
            Matrix Accumulation in Diabetic Nephropathy through Disturbance of
            Peritubular Microenvironment.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 258)
  AUTHORS   Townsend-Nicholson A and Shine J.
  TITLE     Molecular cloning and characterisation of a human brain A1
            adenosine receptor cDNA
  JOURNAL   Brain Res Mol Brain Res 16 (3-4), 365-370 (1992)
   PUBMED   1339301
REFERENCE   7  (residues 1 to 258)
  AUTHORS   Libert F, Van Sande J, Lefort A, Czernilofsky A, Dumont JE, Vassart
            G, Ensinger HA and Mendla KD.
  TITLE     Cloning and functional characterization of a human A1 adenosine
            receptor
  JOURNAL   Biochem Biophys Res Commun 187 (2), 919-926 (1992)
   PUBMED   1530647
REFERENCE   8  (residues 1 to 258)
  AUTHORS   Stiles GL.
  TITLE     Adenosine receptors
  JOURNAL   J Biol Chem 267 (10), 6451-6454 (1992)
   PUBMED   1551861
  REMARK    Review article
REFERENCE   9  (residues 1 to 258)
  AUTHORS   Libert F, Passage E, Parmentier M, Simons MJ, Vassart G and Mattei
            MG.
  TITLE     Chromosomal mapping of A1 and A2 adenosine receptors, VIP receptor,
            and a new subtype of serotonin receptor
  JOURNAL   Genomics 11 (1), 225-227 (1991)
   PUBMED   1662665
  REMARK    Erratum:[Genomics 1994 Sep 1;23(1):305]
REFERENCE   10 (residues 1 to 258)
  AUTHORS   Libert F, Parmentier M, Lefort A, Dinsart C, Van Sande J, Maenhaut
            C, Simons MJ, Dumont JE and Vassart G.
  TITLE     Selective amplification and cloning of four new members of the G
            protein-coupled receptor family
  JOURNAL   Science 244 (4904), 569-572 (1989)
   PUBMED   2541503
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC105940.2.
            On Jul 24, 2018 this sequence version replaced XP_016855831.1.
            
            Summary: The protein encoded by this gene is an adenosine receptor
            that belongs to the G-protein coupled receptor 1 family. There are
            3 types of adenosine receptors, each with a specific pattern of
            ligand binding and tissue distribution, and together they regulate
            a diverse set of physiologic functions. The type A1 receptors
            inhibit adenylyl cyclase, and play a role in the fertilization
            process. Animal studies also suggest a role for A1 receptors in
            kidney function and ethanol intoxication. Transcript variants with
            alternative splicing in the 5' UTR have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.74583.1,
                                           SRR7410570.115002.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..258
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     Protein         1..258
                     /product="adenosine receptor A1 isoform 2"
                     /calculated_mol_wt=29276
     Region          <46..231
                     /region_name="7tm_GPCRs"
                     /note="seven-transmembrane G protein-coupled receptor
                     superfamily; cl28897"
                     /db_xref="CDD:452889"
     Region          58..74
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:410628"
     Region          110..133
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:410628"
     Region          165..187
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:410628"
     Region          199..224
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:410628"
     CDS             1..258
                     /gene="ADORA1"
                     /gene_synonym="RDC7"
                     /coded_by="NM_001365065.1:670..1446"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="GeneID:134"
                     /db_xref="HGNC:HGNC:262"
                     /db_xref="MIM:102775"
ORIGIN      
        1 mhlpthrale eegaplrgpw rpgvpqrgls rqlggrsshs allsprykmv vtprraavai
       61 agcwilsfvv gltpmfgwnn lsaverawaa ngsmgepvik cefekvisme ymvyfnffvw
      121 vlpplllmvl iylevfylir kqlnkkvsas sgdpqkyygk elkiakslal ilflfalswl
      181 plhilncitl fcpschkpsi ltyiaiflth gnsamnpivy afriqkfrvt flkiwndhfr
      241 cqpappided lpeerpdd
//
LOCUS       NP_001350105             324 aa            linear   PRI 11-MAR-2023
DEFINITION  transmembrane protein 68 isoform 1 [Homo sapiens].
ACCESSION   NP_001350105 XP_011515756
VERSION     NP_001350105.1
DBSOURCE    REFSEQ: accession NM_001363176.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 324)
  AUTHORS   Wang Y, Zeng F, Zhao Z, He L, He X, Pang H, Huang F and Chang P.
  TITLE     Transmembrane Protein 68 Functions as an MGAT and DGAT Enzyme for
            Triacylglycerol Biosynthesis
  JOURNAL   Int J Mol Sci 24 (3), 2012 (2023)
   PUBMED   36768334
  REMARK    GeneRIF: Transmembrane Protein 68 Functions as an MGAT and DGAT
            Enzyme for Triacylglycerol Biosynthesis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 324)
  AUTHORS   Chang P, Heier C, Qin W, Han L, Huang F and Sun Q.
  TITLE     Molecular identification of transmembrane protein 68 as an
            endoplasmic reticulum-anchored and brain-specific protein
  JOURNAL   PLoS One 12 (5), e0176980 (2017)
   PUBMED   28472192
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 324)
  AUTHORS   Zhan M, Chen G, Pan CM, Gu ZH, Zhao SX, Liu W, Wang HN, Ye XP, Xie
            HJ, Yu SS, Liang J, Gao GQ, Yuan GY, Zhang XM, Zuo CL, Su B, Huang
            W, Ning G, Chen SJ, Chen JL and Song HD.
  CONSRTM   China Consortium for Genetics of Autoimmune Thyroid Disease
  TITLE     Genome-wide association study identifies a novel susceptibility
            gene for serum TSH levels in Chinese populations
  JOURNAL   Hum Mol Genet 23 (20), 5505-5517 (2014)
   PUBMED   24852370
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA121422.1, DA549603.1, AK056932.1, AL832935.1, AC100817.5 and
            DB370750.1.
            On May 10, 2018 this sequence version replaced XP_011515756.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.257018.1,
                                           SRR1803616.126152.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..324
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     Protein         1..324
                     /product="transmembrane protein 68 isoform 1"
                     /calculated_mol_wt=37294
     Site            51..71
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MH6.2)"
     Region          103..310
                     /region_name="LPLAT_MGAT-like"
                     /note="Lysophospholipid Acyltransferases (LPLATs) of
                     Glycerophospholipid Biosynthesis: MGAT-like; cd07987"
                     /db_xref="CDD:153249"
     Site            126..146
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MH6.2)"
     Site            order(130,133,136,151..154,199..201)
                     /site_type="active"
                     /note="putative acyl-acceptor binding pocket [active]"
                     /db_xref="CDD:153249"
     CDS             1..324
                     /gene="TMEM68"
                     /coded_by="NM_001363176.1:267..1241"
                     /note="isoform 1 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS75742.1"
                     /db_xref="GeneID:137695"
                     /db_xref="HGNC:HGNC:26510"
ORIGIN      
        1 midknqtcgv gqdsvpymic lihileewfg veqledylnf anyllwvftp lillilpyft
       61 ifllyltiif lhiykrknvl keayshnlwd garktvatlw dghaavwhgy evhgmekipe
      121 dgpaliifyh gaipidfyyf makifihkgr tcrvvadhfv fkipgfslll dvfcalhgpr
      181 ekcveilrsg hllaispggv realisdety nivwghrrgf aqvaidakvp iipmftqnir
      241 egfrslggtr lfrwlyekfr ypfapmyggf pvklrtylgd pipydpqita eelaektkna
      301 vqalidkhqr ipgnimsall erfh
//
LOCUS       NP_001308046             333 aa            linear   PRI 15-MAR-2023
DEFINITION  zinc finger and SCAN domain-containing protein 22 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001308046
VERSION     NP_001308046.1
DBSOURCE    REFSEQ: accession NM_001321117.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 333)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 333)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 333)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 333)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 333)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (residues 1 to 333)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   7  (residues 1 to 333)
  AUTHORS   Matsumoto N, Fujimoto M, Kato R and Niikawa N.
  TITLE     Assignment of the human GLI2 gene to 2q14 by fluorescence in situ
            hybridization
  JOURNAL   Genomics 36 (1), 220-221 (1996)
   PUBMED   8812445
REFERENCE   8  (residues 1 to 333)
  AUTHORS   Lichter P, Bray P, Ried T, Dawid IB and Ward DC.
  TITLE     Clustering of C2-H2 zinc finger motif sequences within telomeric
            and fragile site regions of human chromosomes
  JOURNAL   Genomics 13 (4), 999-1007 (1992)
   PUBMED   1505991
REFERENCE   9  (residues 1 to 333)
  AUTHORS   Bray P, Lichter P, Thiesen HJ, Ward DC and Dawid IB.
  TITLE     Characterization and mapping of human genes encoding zinc finger
            proteins
  JOURNAL   Proc Natl Acad Sci U S A 88 (21), 9563-9567 (1991)
   PUBMED   1946370
REFERENCE   10 (residues 1 to 333)
  AUTHORS   Ruppert JM, Kinzler KW, Wong AJ, Bigner SH, Kao FT, Law ML, Seuanez
            HN, O'Brien SJ and Vogelstein B.
  TITLE     The GLI-Kruppel family of human genes
  JOURNAL   Mol Cell Biol 8 (8), 3104-3113 (1988)
   PUBMED   2850480
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010642.5, DA335630.1, BC143446.1, AK128716.1 and AC012313.7.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.275115.1,
                                           DRR138524.1276968.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..333
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     Protein         1..333
                     /product="zinc finger and SCAN domain-containing protein
                     22 isoform 2"
                     /note="zinc finger protein 50; zinc finger and SCAN
                     domain-containing protein 22; GLI-Kruppel family member
                     HKR2; krueppel-related zinc finger protein 2"
                     /calculated_mol_wt=36591
     Site            9
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P10073.2)"
     Region          45..130
                     /region_name="SCAN"
                     /note="SCAN domain; pfam02023"
                     /db_xref="CDD:426568"
     Site            order(52..53,55..57,62..64,66..67,70..71,74..75,77..80,
                     84..85,88..89,92..94,96..97,99..102,121,124..125,127..129)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:153421"
     CDS             1..333
                     /gene="ZSCAN22"
                     /gene_synonym="HKR2; ZNF50"
                     /coded_by="NM_001321117.2:173..1174"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:342945"
                     /db_xref="HGNC:HGNC:4929"
                     /db_xref="MIM:165260"
ORIGIN      
        1 maipkhslsp vpweedsflq vkveeeeeas lsqggesshd hiahseaarl rfrhfryeea
       61 sgphealahl ralccqwlqp eahskeqile llvleqflga lppeiqawvg aqspksgeea
      121 avlvedltqd giqepspqrq aasrvtwesq shqmslrpsw evfpldppls rhvnlraaqr
      181 gldyqgrsgq slspnrstsr klqgltrmsp qtsvavnlvp rgtvlvrgqt sppkrsllqk
      241 tnliwwmlmg qslhtptqgr gppsvasvgr csrvlrrsrh trrpilgrph mpaasvgkps
      301 agaltspstr lstqgrspms vrnvgrpsae spt
//
LOCUS       NP_620777                473 aa            linear   PRI 16-MAR-2023
DEFINITION  MAP kinase-activated protein kinase 5 isoform 2 [Homo sapiens].
ACCESSION   NP_620777
VERSION     NP_620777.1
DBSOURCE    REFSEQ: accession NM_139078.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 473)
  AUTHORS   Vecchio D, Cocciadiferro D, Macchiaiolo M, Gonfiantini MV, Agolini
            E, Matraxia M, Carboni A, Coretti A, Villani A, Panfili FM, Dentici
            ML, Buonuomo PS, Rana I, Colafati GS, Digilio MC, Novelli A and
            Bartuli A.
  TITLE     Expanding the novel MAPKAPK5-related developmental disorder's
            genotype-phenotype correlation: Patient report and 19 months of
            follow-up
  JOURNAL   Clin Genet 102 (2), 142-148 (2022)
   PUBMED   35575217
  REMARK    GeneRIF: Expanding the novel MAPKAPK5-related developmental
            disorder's genotype-phenotype correlation: Patient report and 19
            months of follow-up.
REFERENCE   2  (residues 1 to 473)
  AUTHORS   Khalil MI, Singh V, King J and De Benedetti A.
  TITLE     TLK1-mediated MK5-S354 phosphorylation drives prostate cancer cell
            motility and may signify distinct pathologies
  JOURNAL   Mol Oncol 16 (13), 2537-2557 (2022)
   PUBMED   35064619
  REMARK    GeneRIF: TLK1-mediated MK5-S354 phosphorylation drives prostate
            cancer cell motility and may signify distinct pathologies.
REFERENCE   3  (residues 1 to 473)
  AUTHORS   Wang Y, Xie Y, Dong B, Xue W, Chen S, Mitsuo S, Zou H, Feng Y, Ma
            K, Dong Q, Cao J and Zhu C.
  TITLE     The TTYH3/MK5 Positive Feedback Loop regulates Tumor Progression
            via GSK3-beta/beta-catenin signaling in HCC
  JOURNAL   Int J Biol Sci 18 (10), 4053-4070 (2022)
   PUBMED   35844789
  REMARK    GeneRIF: The TTYH3/MK5 Positive Feedback Loop regulates Tumor
            Progression via GSK3-beta/beta-catenin signaling in HCC.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 473)
  AUTHORS   Peng Z, Ouyang X, Wang Y and Fan Q.
  TITLE     MAPKAPK5-AS1 drives the progression of hepatocellular carcinoma via
            regulating miR-429/ZEB1 axis
  JOURNAL   BMC Mol Cell Biol 23 (1), 21 (2022)
   PUBMED   35468721
  REMARK    GeneRIF: MAPKAPK5-AS1 drives the progression of hepatocellular
            carcinoma via regulating miR-429/ZEB1 axis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 473)
  AUTHORS   Horn D, Fernandez-Nunez E, Gomez-Carmona R, Rivera-Barahona A,
            Nevado J, Schwartzmann S, Ehmke N, Lapunzina P, Otaify GA, Temtamy
            S, Aglan M, Boschann F and Ruiz-Perez VL.
  TITLE     Biallelic truncating variants in MAPKAPK5 cause a new developmental
            disorder involving neurological, cardiac, and facial anomalies
            combined with synpolydactyly
  JOURNAL   Genet Med 23 (4), 679-688 (2021)
   PUBMED   33442026
  REMARK    GeneRIF: Biallelic truncating variants in MAPKAPK5 cause a new
            developmental disorder involving neurological, cardiac, and facial
            anomalies combined with synpolydactyly.
REFERENCE   6  (residues 1 to 473)
  AUTHORS   Sudo T, Maruyama M and Osada H.
  TITLE     p62 functions as a p38 MAP kinase regulator
  JOURNAL   Biochem Biophys Res Commun 269 (2), 521-525 (2000)
   PUBMED   10708586
REFERENCE   7  (residues 1 to 473)
  AUTHORS   New L, Jiang Y, Zhao M, Liu K, Zhu W, Flood LJ, Kato Y, Parry GC
            and Han J.
  TITLE     PRAK, a novel protein kinase regulated by the p38 MAP kinase
  JOURNAL   EMBO J 17 (12), 3372-3384 (1998)
   PUBMED   9628874
REFERENCE   8  (residues 1 to 473)
  AUTHORS   Borsch-Haubold AG, Bartoli F, Asselin J, Dudler T, Kramer RM,
            Apitz-Castro R, Watson SP and Gelb MH.
  TITLE     Identification of the phosphorylation sites of cytosolic
            phospholipase A2 in agonist-stimulated human platelets and HeLa
            cells
  JOURNAL   J Biol Chem 273 (8), 4449-4458 (1998)
   PUBMED   9468497
REFERENCE   9  (residues 1 to 473)
  AUTHORS   Ni H, Wang XS, Diener K and Yao Z.
  TITLE     MAPKAPK5, a novel mitogen-activated protein kinase (MAPK)-activated
            protein kinase, is a substrate of the extracellular-regulated
            kinase (ERK) and p38 kinase
  JOURNAL   Biochem Biophys Res Commun 243 (2), 492-496 (1998)
   PUBMED   9480836
REFERENCE   10 (residues 1 to 473)
  AUTHORS   de Carvalho MG, McCormack AL, Olson E, Ghomashchi F, Gelb MH, Yates
            JR 3rd and Leslie CC.
  TITLE     Identification of phosphorylation sites of human 85-kDa cytosolic
            phospholipase A2 expressed in insect cells and present in human
            monocytes
  JOURNAL   J Biol Chem 271 (12), 6987-6997 (1996)
   PUBMED   8636128
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC003029.5.
            
            Summary: The protein encoded by this gene is a tumor suppressor and
            member of the serine/threonine kinase family. In response to
            cellular stress and proinflammatory cytokines, this kinase is
            activated through its phosphorylation by MAP kinases including
            MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded
            protein is found in the nucleus but translocates to the cytoplasm
            upon phosphorylation and activation. This kinase phosphorylates
            heat shock protein HSP27 at its physiologically relevant sites. Two
            alternately spliced transcript variants of this gene encoding
            distinct isoforms have been reported. [provided by RefSeq, Nov
            2012].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853565.7650.1,
                                           SRR14038193.3710275.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..473
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.12-q24.13"
     Protein         1..473
                     /product="MAP kinase-activated protein kinase 5 isoform 2"
                     /EC_number="2.7.11.1"
                     /note="p38-regulated/activated protein kinase; MAP
                     kinase-activated protein kinase 5; MAPKAPK-5; MAPKAP
                     kinase 5; mitogen-activated protein kinase-activated
                     protein kinase 5"
                     /calculated_mol_wt=54090
     Region          15..304
                     /region_name="STKc_MAPKAPK5"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Mitogen-activated protein kinase-activated protein kinase
                     5; cd14171"
                     /db_xref="CDD:271073"
     Site            order(28..33,36,49,51,76,102..105,109,111,147..148,150,
                     152..153,155,168..169,172,184..188,190)
                     /site_type="active"
                     /db_xref="CDD:271073"
     Site            order(28..33,36,49,51,76,102..105,153,155,168..169)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271073"
     Site            order(32,109,111,147..148,150,152,172,184..188,190)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271073"
     Site            115
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000250|UniProtKB:O54992; propagated from
                     UniProtKB/Swiss-Prot (Q8IW41.2)"
     Site            order(168..178,180..188)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271073"
     Site            182
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by MAPK11, MAPK14, MAPK4, MAPK6
                     and PKA. /evidence=ECO:0000269|PubMed:9628874,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IW41.2)"
     Site            212
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12808055; propagated from
                     UniProtKB/Swiss-Prot (Q8IW41.2)"
     Site            354
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IW41.2)"
     CDS             1..473
                     /gene="MAPKAPK5"
                     /gene_synonym="MAPKAP-K5; MK-5; MK5; NCFD; PRAK"
                     /coded_by="NM_139078.3:507..1928"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS44975.1"
                     /db_xref="GeneID:8550"
                     /db_xref="HGNC:HGNC:6889"
                     /db_xref="MIM:606723"
ORIGIN      
        1 mseesdmdka iketsileey sinwtqklga gisgpvrvcv kkstqerfal killdrpkar
       61 nevrlhmmca thpnivqiie vfansvqfph essprarlli vmemmeggel fhrisqhrhf
      121 tekqasqvtk qialalrhch llniahrdlk penllfkdns ldapvklcdf gfakidqgdl
      181 mtpqftpyyv apqvleaqrr hqkeksgiip tsptpytynk scdlwslgvi iyvmlcgypp
      241 fyskhhsrti pkdmrrkimt gsfefpeeew sqisemakdv vrkllkvkpe erltiegvld
      301 hpwlnsteal dnvlpsaqlm mdkavvagiq qahaeqlanm riqdlkvslk plhsvnnpil
      361 rkrkllgtkp kdsvyihdhe ngaedsnval eklrdviaqc ilpqagkgen edeklnevmq
      421 eawkynreck llrdtlqsfs wngrgftdkv drlklaeivk qvieeqttsh esq
//
LOCUS       NP_001337433            1168 aa            linear   PRI 19-MAR-2023
DEFINITION  jouberin isoform c [Homo sapiens].
ACCESSION   NP_001337433 XP_016866471
VERSION     NP_001337433.1
DBSOURCE    REFSEQ: accession NM_001350504.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1168)
  AUTHORS   Karamzade A, Babaei M, Saberi M, Golchin N, Khalil Nejad Sani
            Banaei A, Eshaghkhani Y, Golchehre Z and Keramatipour M.
  TITLE     Identification of a novel truncating variant in AHI1 gene and a
            brief review on mutations spectrum
  JOURNAL   Mol Biol Rep 48 (6), 5339-5345 (2021)
   PUBMED   34191236
  REMARK    GeneRIF: Identification of a novel truncating variant in AHI1 gene
            and a brief review on mutations spectrum.
            Review article
REFERENCE   2  (residues 1 to 1168)
  AUTHORS   Bai Z, Hu S, Liu N, Wu Q and Kong X.
  TITLE     [Genetic testing and prenatal diagnosis for two families affected
            with Joubert syndrome]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 37 (5), 509-513 (2020)
   PUBMED   32335874
  REMARK    GeneRIF: The proband of family 1 with Joubert syndrome was found to
            harbor homozygous c.2072delT (p.F691S*fs19) frameshift variant of
            the AHI1 gene, which may cause premature termination of translation
            of the Abelson helper integration site 1 after the 691st amino acid
REFERENCE   3  (residues 1 to 1168)
  AUTHORS   Sheu JJ, Yang LY, Sanotra MR, Wang ST, Lu HT, Kam RSY, Hsu IU, Kao
            SH, Lee CK, Shieh JC and Lin YF.
  TITLE     Reduction of AHI1 in the serum of Taiwanese with probable
            Alzheimer's disease
  JOURNAL   Clin Biochem 76, 24-30 (2020)
   PUBMED   31786207
  REMARK    GeneRIF: An early event of AHI1 reduction in the body of AD
            patients was observed. Serum AHI1 may be valuable for early
            diagnosis of Alzheimer disease
REFERENCE   4  (residues 1 to 1168)
  AUTHORS   Whongsiri P, Pimratana C, Wijitsettakul U, Jindatip D, Sanpavat A,
            Schulz WA, Hoffmann MJ, Goering W and Boonla C.
  TITLE     LINE-1 ORF1 Protein Is Up-regulated by Reactive Oxygen Species and
            Associated with Bladder Urothelial Carcinoma Progression
  JOURNAL   Cancer Genomics Proteomics 15 (2), 143-151 (2018)
   PUBMED   29496693
  REMARK    GeneRIF: Elevated ORF1p expression is associated with tumor
            progression. ROS experimentally induce ORF1p expression and promote
            migration in bladder cancer cells.
REFERENCE   5  (residues 1 to 1168)
  AUTHORS   Close J, Game L, Clark B, Bergounioux J, Gerovassili A and Thein
            SL.
  TITLE     Genome annotation of a 1.5 Mb region of human chromosome 6q23
            encompassing a quantitative trait locus for fetal hemoglobin
            expression in adults
  JOURNAL   BMC Genomics 5 (1), 33 (2004)
   PUBMED   15169551
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1168)
  AUTHORS   Jiang X, Zhao Y, Chan WY, Vercauteren S, Pang E, Kennedy S,
            Nicolini F, Eaves A and Eaves C.
  TITLE     Deregulated expression in Ph+ human leukemias of AHI-1, a gene
            activated by insertional mutagenesis in mouse models of leukemia
  JOURNAL   Blood 103 (10), 3897-3904 (2004)
   PUBMED   14751929
  REMARK    GeneRIF: in both mice and humans, Ahi-1/AHI-1 expression is highest
            in the most primitive hematopoietic cells with specific patterns of
            down-regulation in different lineages. Cells from CML patients show
            elevated AHI-1 transcripts in all disease phases
REFERENCE   7  (residues 1 to 1168)
  AUTHORS   Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Betard C,
            Barbot C and Koenig M.
  TITLE     Homozygosity mapping of a third Joubert syndrome locus to 6q23
  JOURNAL   J Med Genet 41 (4), 273-277 (2004)
   PUBMED   15060101
REFERENCE   8  (residues 1 to 1168)
  AUTHORS   Jiang X, Hanna Z, Kaouass M, Girard L and Jolicoeur P.
  TITLE     Ahi-1, a novel gene encoding a modular protein with WD40-repeat and
            SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus
            integrations
  JOURNAL   J Virol 76 (18), 9046-9059 (2002)
   PUBMED   12186888
REFERENCE   9  (residues 1 to 1168)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (residues 1 to 1168)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133544.6, AL049552.20 and
            AL023693.25.
            On Apr 15, 2017 this sequence version replaced XP_016866471.1.
            
            Summary: This gene is apparently required for both cerebellar and
            cortical development in humans. This gene mutations cause specific
            forms of Joubert syndrome-related disorders. Joubert syndrome (JS)
            is a recessively inherited developmental brain disorder with
            several identified causative chromosomal loci. Alternatively
            spliced transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Oct 2008].
            
            Transcript Variant: This variant (6) encodes isoform c.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2768387.1,
                                           SRR14038196.3155460.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1168
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.3"
     Protein         1..1168
                     /product="jouberin isoform c"
                     /note="contatins SH3 and WD40 domains; abelson helper
                     integration site 1 protein homolog"
                     /calculated_mol_wt=133648
     Site            45
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N157.1)"
     Region          56..186
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N157.1)"
     Region          141..434
                     /region_name="Interaction with HAP1.
                     /evidence=ECO:0000269|PubMed:23532844"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N157.1)"
     Region          215..242
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N157.1)"
     Region          254..327
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N157.1)"
     Region          607..649
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N157.1)"
     Region          611..907
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          612..652
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Site            order(626,630,639..640,652..653,671,675,681..682,695..696,
                     714,719,725..726,743,760,772,787..788,800,817,821,
                     827..828,843..844,859,864,870..871,883,886,904)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          652..691
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N157.1)"
     Region          658..695
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          695..735
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N157.1)"
     Region          700..737
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          742..781
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N157.1)"
     Region          748..783
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          797..837
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N157.1)"
     Region          803..840
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          841..880
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N157.1)"
     Region          885..926
                     /region_name="WD 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N157.1)"
     Site            1002
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N157.1)"
     Region          1055..1106
                     /region_name="SH3_AHI-1"
                     /note="Src Homology 3 domain of Abelson helper integration
                     site-1 (AHI-1); cd11812"
                     /db_xref="CDD:212746"
     Site            order(1060,1062,1065,1069,1087..1088,1102,1104..1105)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212746"
     Site            1123
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N157.1)"
     CDS             1..1168
                     /gene="AHI1"
                     /gene_synonym="AHI-1; dJ71N10.1; JBTS3; ORF1"
                     /coded_by="NM_001350504.2:360..3866"
                     /note="isoform c is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS94006.1"
                     /db_xref="GeneID:54806"
                     /db_xref="HGNC:HGNC:21575"
                     /db_xref="MIM:608894"
ORIGIN      
        1 mptaeseakv ktkvrfeell kthsdlmrek kklkkklvrs eenispdtir snlhymkett
       61 sddpdtirsn lphikettsd dvsaantnnl kkstrvtknk lrntqlaten pngdasveed
      121 kqgkpnkkvi ktvpqlttqd lkpetpenkv dsthqkthtk pqpgvdhqks ekanegreet
      181 dleedeelmq ayqchvteem akeikrkirk klkeqltyfp sdtlfhddkl ssekrkkkke
      241 vpvfskaets tltisgdtve geqkkessvr svssdshqdd eissmeqste dsmqddtkpk
      301 pkktkkktka vadnnedvdg dgvheitsrd spvypkclld ddlvlgvyih rtdrlksdfm
      361 ishpmvkihv vdehtgqyvk kddsgrpvss yyekenvdyi lpimtqpydf kqlksrlpew
      421 eeqivfnenf pyllrgsdes pkvilffeil dflsvdeikn nsevqnqecg frkiawaflk
      481 llgangnani nsklrlqlyy pptkprspls vveafewwsk cprnhypstl yvtvrglkvp
      541 dcikpsyrsm malqeekgkp vhcerhhess svdtepglee skevikwkrl pgqacripnk
      601 hlfslnager gcfcldfshn grilaaacas rdgypiilye ipsgrfmrel cghlniiydl
      661 swskddhyil tsssdgtari wkneinntnt frvlphpsfv ytakfhpavr elvvtgcyds
      721 miriwkvemr edsailvrqf dvhksfinsl cfdteghhmy sgdctgvivv wntyvkindl
      781 ehsvhhwtin keiketefkg ipisyleihp ngkrllihtk dstlrimdlr ilvarkfvga
      841 anyrekihst ltpcgtflfa gsedgivyvw npetgeqvam ysdlpfkspi rdisyhpfen
      901 mvafcafgqn epillyiydf hvaqqeaemf kryngtfplp gihqsqdalc tcpklphqgs
      961 fqidefvhte ssstkmqlvk qrletvtevi rscaakvnkn lsftsppavs sqqsklkqsn
     1021 mltaqeilhq fgftqtgiis ierkpcnhqv dtaptvvaly dytanrsdel tihrgdiirv
     1081 ffkdnedwwy gsigkgqegy fpanhvaset lyqelppeik erspplspee ktkiekspap
     1141 qkqsinknks qdfrlgsesm thkelkks
//
LOCUS       NP_001159608            1228 aa            linear   PRI 19-MAR-2023
DEFINITION  limbin isoform 2 [Homo sapiens].
ACCESSION   NP_001159608
VERSION     NP_001159608.1
DBSOURCE    REFSEQ: accession NM_001166136.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1228)
  AUTHORS   Kantaputra P, Dejkhamron P, Sittiwangkul R, Katanyuwong K, Ngamphiw
            C, Sonsuwan N, Intachai W, Tongsima S, Beales PL and
            Buranaphatthana W.
  TITLE     Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2,
            BBS7, and EVC2 Mutations
  JOURNAL   Genes (Basel) 14 (1), 84 (2022)
   PUBMED   36672825
  REMARK    GeneRIF: Dental Anomalies in Ciliopathies: Lessons from Patients
            with BBS2, BBS7, and EVC2 Mutations.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1228)
  AUTHORS   Gokhman D, Agoglia RM, Kinnebrew M, Gordon W, Sun D, Bajpai VK,
            Naqvi S, Chen C, Chan A, Chen C, Petrov DA, Ahituv N, Zhang H,
            Mishina Y, Wysocka J, Rohatgi R and Fraser HB.
  TITLE     Human-chimpanzee fused cells reveal cis-regulatory divergence
            underlying skeletal evolution
  JOURNAL   Nat Genet 53 (4), 467-476 (2021)
   PUBMED   33731941
  REMARK    GeneRIF: Human-chimpanzee fused cells reveal cis-regulatory
            divergence underlying skeletal evolution.
            Erratum:[Nat Genet. 2021 Mar 24;:. PMID: 33762754]
REFERENCE   3  (residues 1 to 1228)
  AUTHORS   Zhao K, Lian M, Zou D, Huang W, Zhou W, Shen Y, Wang F and Wu Y.
  TITLE     Novel mutations identified in patients with tooth agenesis by
            whole-exome sequencing
  JOURNAL   Oral Dis 25 (2), 523-534 (2019)
   PUBMED   30417976
  REMARK    GeneRIF: Novel Wnt10A mutations (c.521T>C and c.653T>G) and EVC2
            mutation (c.1472C>T) were identified in families with selective
            tooth agenesis. The Wnt10A c.521T>C mutation and the EVC2 c.1472C>T
            mutation were considered as pathogenic for affecting highly
            conserved amino acids, co-segregated with phenotype and predicted
            to be disease-causing by SIFT and PolyPhen2.
REFERENCE   4  (residues 1 to 1228)
  AUTHORS   Nguyen TQN, Doan NMT, Trinh HT and Mizuguchi M.
  TITLE     Novel mutation in EFCAB7 alters expression and interaction of
            Ellis-van Creveld ciliary proteins
  JOURNAL   Congenit Anom (Kyoto) 59 (2), 49-50 (2019)
   PUBMED   29845660
  REMARK    GeneRIF: Novel mutation in EFCAB7 alters expression and interaction
            with EVC2 protein.
REFERENCE   5  (residues 1 to 1228)
  AUTHORS   Umair M, Seidel H, Ahmed I, Ullah A, Haack TB, Alhaddad B, Jan A,
            Rafique A, Strom TM, Ahmad F, Meitinger T and Ahmad W.
  TITLE     Ellis-van Creveld syndrome and profound deafness resulted by
            sequence variants in the EVC/EVC2 and TMC1 genes
  JOURNAL   J Genet 96 (6), 1005-1014 (2017)
   PUBMED   29321360
  REMARK    GeneRIF: he whole exome sequencing (WES) in this family revealed
            two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and
            TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound
            heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene.
REFERENCE   6  (residues 1 to 1228)
  AUTHORS   Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R and Bian Z.
  TITLE     A novel heterozygous deletion in the EVC2 gene causes Weyers
            acrofacial dysostosis
  JOURNAL   Hum Genet 119 (1-2), 199-205 (2006)
   PUBMED   16404586
  REMARK    GeneRIF: Data provide conclusive evidence that Weyers acrofacial
            dysostosis and EvC syndrome are allelic and genetically
            heterogeneous conditions.
REFERENCE   7  (residues 1 to 1228)
  AUTHORS   Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina
            P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ and Goodship
            JA.
  TITLE     Mutations in two nonhomologous genes in a head-to-head
            configuration cause Ellis-van Creveld syndrome
  JOURNAL   Am J Hum Genet 72 (3), 728-732 (2003)
   PUBMED   12571802
  REMARK    GeneRIF: Mutations in this gene cause Ellis-van Creveld syndrome.
REFERENCE   8  (residues 1 to 1228)
  AUTHORS   Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, Egeland JA
            and Ginns EI.
  TITLE     A new gene, EVC2, is mutated in Ellis-van Creveld syndrome
  JOURNAL   Mol Genet Metab 77 (4), 291-295 (2002)
   PUBMED   12468274
  REMARK    GeneRIF: EVC2 is mutated in an Ashkenazi individual with Ellis-van
            Creveld syndrome
REFERENCE   9  (residues 1 to 1228)
  AUTHORS   Takeda H, Takami M, Oguni T, Tsuji T, Yoneda K, Sato H, Ihara N,
            Itoh T, Kata SR, Mishina Y, Womack JE, Moritomo Y, Sugimoto Y and
            Kunieda T.
  TITLE     Positional cloning of the gene LIMBIN responsible for bovine
            chondrodysplastic dwarfism
  JOURNAL   Proc Natl Acad Sci U S A 99 (16), 10549-10554 (2002)
   PUBMED   12136126
REFERENCE   10 (residues 1 to 1228)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY152402.1, AC116613.6,
            AC114738.4, BG755658.1 and AW137166.1.
            
            Summary: This gene encodes a protein that functions in bone
            formation and skeletal development. Mutations in this gene, as well
            as in a neighboring gene that lies in a head-to-head configuration,
            cause Ellis-van Creveld syndrome, an autosomal recessive skeletal
            dysplasia that is also known as chondroectodermal dysplasia.
            Mutations in this gene also cause acrofacial dysostosis Weyers
            type, also referred to as Curry-Hall syndrome, a disease that
            combines limb and facial abnormalities. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Oct
            2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and uses a downstream
            translational start codon, compared to variant 1. The resulting
            isoform (2) is shorter at the N-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY152402.1, SRR18074967.3287014.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1228
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.2"
     Protein         1..1228
                     /product="limbin isoform 2"
                     /note="limbin; ellis-van Creveld syndrome protein 2; Ellis
                     van Creveld syndrome 2"
                     /calculated_mol_wt=139730
     Region          157..580
                     /region_name="EVC2_like"
                     /note="Ellis van Creveld protein 2 like protein;
                     pfam12297"
                     /db_xref="CDD:432462"
     Region          555..>714
                     /region_name="PRK12704"
                     /note="phosphodiesterase; Provisional"
                     /db_xref="CDD:237177"
     Region          <573..887
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     CDS             1..1228
                     /gene="EVC2"
                     /gene_synonym="LBN; WAD"
                     /coded_by="NM_001166136.2:733..4419"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS54718.1"
                     /db_xref="GeneID:132884"
                     /db_xref="HGNC:HGNC:19747"
                     /db_xref="MIM:607261"
ORIGIN      
        1 miwpkvecch fktaveaplg mkldkkmevf iplstsaass gpwahslfaf ipswpkknlf
       61 krespithrl ygdisrevqg tsengvifqk calvsgssea qtariwllvn ntkttssanl
      121 selllldsia gltiwdsvgn rtsegfqafs kkflqvgdaf avsyaatlqa gdlgngeslk
      181 lpaqltfqss srnrtqlkvl fsitaeenvt vlphhglhaa gffiafllsl vltwaalflm
      241 vryqclkgnm ltrhrvwqye skleplpfts adgvnedlsl ndqmidilss edpgsmlqal
      301 eeleiatlnr adadleacrt qiskdiiall lknltssghl spqverkmsa vfkkqfllle
      361 neiqeeydrk mvaltaecdl etrkkmenqy qremmameea eellkrager savecsnllr
      421 tlhgleqehl rkslalqqee dfakahrqla vfqrnelhsi fftqiksaif kgelkpeaak
      481 mllqnyskiq enveelmdff qaskryhlsk rfghreylvq nlqssetrvq gllstaaaql
      541 thliqkhera gyldedqmem lleraqtevf sikqkldndl kqekkklhqk litkrrrell
      601 qkhreqrreq asvgeafrtv edagqylhqk rslmeehgat leelqerldq aalddlrtlt
      661 lslfekatde lrrlqnsamt qellkrgvpw lflqqileeh gkemaaraeq legeerdrdq
      721 egvqsvrqrl kddapeavte eqaelrrweh lifmklcssv fslseeellr mrqevhgcfa
      781 qmdrslalpk irarvllqqf qtawreaefv kldqavaape lqqqskvrks rskskskgel
      841 lkkciedkih lceeqasedl vekvrgellr ervqrmeaqe ggfaqslval qfqkasrvte
      901 tlsaytalls iqdllleels asemltksac tqileshsre lqelerkled qlvqqeaaqq
      961 qqalaswqqw vadgpgilne pgevdserqv stvlhqalsk sqtlleqhqq clreeqqnsv
     1021 vledllenme adtfatlcsq elrlasylar mamvpgatlr rllsvvlpta sqpqllalld
     1081 saterhvdha aesdggaeqa dvgrrrkhqs wwqaldgklr gdlisrglek mlwarkrkqs
     1141 ilkktclplr ermifsgkgs wphlslepig elapvpivga etidllntge klfifrnpke
     1201 peislhvppr kkknflnakk amralgmd
//
LOCUS       XP_047297964             561 aa            linear   PRI 20-MAR-2023
DEFINITION  tudor and KH domain-containing protein isoform X1 [Homo sapiens].
ACCESSION   XP_047297964
VERSION     XP_047297964.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442008.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..561
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..561
                     /product="tudor and KH domain-containing protein isoform
                     X1"
                     /calculated_mol_wt=61915
     Region          49..119
                     /region_name="KH-I_TDRKH_rpt1"
                     /note="first type I K homology (KH) RNA-binding domain
                     found in tudor and KH domain-containing protein (TDRKH)
                     and similar proteins; cd22428"
                     /db_xref="CDD:411856"
     Site            order(62,64..66,68..72,75..76,79..80,85..88)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:411856"
     Region          124..205
                     /region_name="KH-I_TDRKH_rpt2"
                     /note="second type I K homology (KH) RNA-binding domain
                     found in tudor and KH domain-containing protein (TDRKH)
                     and similar proteins; cd22429"
                     /db_xref="CDD:411857"
     Site            order(134,136..138,140..144,147..148,151..152,157..160)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:411857"
     Region          328..420
                     /region_name="Tudor_TDRD2"
                     /note="Tudor domain found in Tudor domain-containing
                     protein 2 (TDRD2) and similar proteins; cd20412"
                     /db_xref="CDD:410483"
     Site            order(364,371,388,391,393)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410483"
     CDS             1..561
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /coded_by="XM_047442008.1:130..1815"
                     /db_xref="GeneID:11022"
                     /db_xref="HGNC:HGNC:11713"
                     /db_xref="MIM:609501"
ORIGIN      
        1 mstertswts lstiqkialg lgipasatva yilyrryres reerltfvge ddieiemrvp
       61 qeavkliigr qganikqlrk qtgaridvdt edvgdervll isgfpvqvck akaaihqilt
      121 entpvseqls vpqrsvgrii grggetirsi ckasgakitc dkesegtlll srlikisgtq
      181 kevaaakhli lekvsedeel rkriahsaet rvprkqpisv rredmtepgg agepalwknt
      241 sssmeptapl vtpppkgggd mavvvskegs wekpsddsfq kseaqaipem pmfeipspdf
      301 sfhadeylev yvsasehpnh fwiqivgsrs lqldklvnem tqhyensvpe dltvhvgdiv
      361 aaplptngsw yrarvlgtle ngnldlyfvd fgdngdcplk dlralrsdfl slpfqaiecs
      421 lariapsgdq weeealdefd rlthcadwkp lvakissyvq tgistwpkiy lydtsngkkl
      481 diglelvhkg yaielpedie enravpdmlk dmatetdasl stlltetkks sgeithtlsc
      541 lslseaasms gddnleddyl l
//
LOCUS       XP_047301911             219 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 125 isoform X1 [Homo sapiens].
ACCESSION   XP_047301911
VERSION     XP_047301911.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445955.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..219
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..219
                     /product="transmembrane protein 125 isoform X1"
                     /calculated_mol_wt=22041
     Region          18..114
                     /region_name="TMEM125"
                     /note="TMEM125 protein family; pfam15109"
                     /db_xref="CDD:434466"
     CDS             1..219
                     /gene="TMEM125"
                     /coded_by="XM_047445955.1:1073..1732"
                     /db_xref="GeneID:128218"
                     /db_xref="HGNC:HGNC:28275"
ORIGIN      
        1 mseqeaqapg grglppdmla eqvelwwsqq prrsalcfvv avglvagcga ggvallstts
       61 srsgewrlat gtvlcllall vlvkqlmssa vqdmncirqa hhvallrsgg gadalvvlls
      121 glvllvtglt laglaaapap arplaamlsv gialaalgsl lllglllyqv gvsghcpsic
      181 matpsthsgh gghgsifsis gqlsagrrhe ttssiasli
//
LOCUS       XP_016856494             692 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein phosphatase non-receptor type 22 isoform X7 [Homo
            sapiens].
ACCESSION   XP_016856494
VERSION     XP_016856494.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001005.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..692
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..692
                     /product="tyrosine-protein phosphatase non-receptor type
                     22 isoform X7"
                     /calculated_mol_wt=78154
     Region          <1..175
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     CDS             1..692
                     /gene="PTPN22"
                     /gene_synonym="LYP; LYP1; LYP2; PEP; PTPN22.5; PTPN22.6;
                     PTPN8"
                     /coded_by="XM_017001005.3:339..2417"
                     /db_xref="GeneID:26191"
                     /db_xref="HGNC:HGNC:9652"
                     /db_xref="MIM:600716"
ORIGIN      
        1 miweysvlii vmacmeyemg kkkcerywae pgemqlefgp fsvsceaekr ksdyiirtlk
       61 vkfnsetrti yqfhyknwpd hdvpssidpi leliwdvrcy qeddsvpici hcsagcgrtg
      121 vicaidytwm llkdgiipen fsvfslirem rtqrpslvqt qeqyelvyna vlelfkrqmd
      181 virdkhsgte sqakhcipek nhtlqadsys pnlpksttka akmmnqqrtk meikesssfd
      241 frtseisake elvlhpakss tsfdflelny sfdknadttm kwqtkafpiv geplqkhqsl
      301 dlgsllfegc snskpvnaag ryfnskvpit rtkstpfeli qqretkevds kenfsylesq
      361 phdscfvemq aqkvmhvssa elnyslpyds khqirnasnv khhdssalgv ysyiplvenp
      421 yfsswppsgt sskmsldlpe kqdgtvfpss llptsstslf syynshdsls lnsptnissl
      481 lnqesavlat apriddeipp plpvwtpesf ivveeagefs pnvpkslssa vkvkigtsle
      541 wggtsepkkf ddsvilrpsk svklrspkse lhqdrssppp plpertlesf fladedcmqa
      601 qsietystsy pdtmenstss kqtlktpgks ftrskslkil rnmkksicns cppnkpaesv
      661 qsnnsssfln fgfanrfskp kgprnppptw ni
//
LOCUS       XP_016856723            1125 aa            linear   PRI 20-MAR-2023
DEFINITION  platelet endothelial aggregation receptor 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_016856723
VERSION     XP_016856723.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001234.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1125
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1125
                     /product="platelet endothelial aggregation receptor 1
                     isoform X1"
                     /calculated_mol_wt=119398
     CDS             1..1125
                     /gene="PEAR1"
                     /gene_synonym="JEDI; MEGF12"
                     /coded_by="XM_017001234.3:1106..4483"
                     /db_xref="GeneID:375033"
                     /db_xref="HGNC:HGNC:33631"
                     /db_xref="MIM:610278"
ORIGIN      
        1 mskdrrrgsd cssgvrcrga gaqskgpedt gpqsglfcmp taqisadrss rllaaaplpt
       61 lrrsccrplq chrlcvpsfs wlwacgwlel stpvipipaa sgkaslpppr sptpapsacs
      121 pqspasgpgr apilapspqt qrkllasrds fcmvcvgvvy rtvyrqvvkt dhrqrlqcch
      181 gfyesrgfcv plcaqecvhg rcvapnqcqc vpgwrgddcs secapgmwgp qcdkpcscgn
      241 nsscdpksgv cscpsglqpp nclqpctpgy ygpacqfrcq chgapcdpqt gacfcpaert
      301 gpscdvscsq gtsgffcpst hscqnggvfq tpqgscscpp gwmgticslp cpegfhgpnc
      361 sqecrchngg lcdrftgqcr capgytgdrc reecpvgrfg qdcaetcdca pdarcfpang
      421 aclcehgftg drctdrlcpd gfyglscqap ctcdrehsls chpmngecsc lpgwaglhcn
      481 escpqdthgp gcqehclclh ggvcqatsgl cqcapgytgp hcaslcppdt ygvncsarcs
      541 cenaiacspi dgecvckegw qrgncsvpcp pgtwgfscna scqcaheavc spqtgactct
      601 pgwhgahcql pcpkgqfgeg casrcdcdhs dgcdpvhgrc qcqagwmgar chlscpeglw
      661 gvncsntctc knggtclpen gncvcapgfr gpscqrscqp grygkrcvpc kcanhsfchp
      721 sngtcyclag wtgpdcsqpc ppghwgenca qtcqchhggt chpqdgscic plgwtghhcl
      781 egcplgtfga ncsqpcqcgp gekchpetga cvcppghsga pcrigiqepf tvmpttpvay
      841 nslgavigia vlgslvvalv alfigyrhwq kgkehhhlav ayssgrldgs eyvmpdvpps
      901 yshyysnpsy htlsqcspnp pppnkvpgpl faslqnperp ggaqghdnht tlpadwkhrr
      961 epppgpldrg ssrldrsysy sysngpgpfy nkgliseeel gasvaslsse npyatirdlp
     1021 slpggpress ymemkgppsg spprqppqfw dsqrrrqpqp qrdsgtyeqp splihdrdsv
     1081 gsqpplppgl ppghydspkn shipghydlp pvrhppsppl rrqdr
//
LOCUS       XP_047276699             772 aa            linear   PRI 20-MAR-2023
DEFINITION  aryl hydrocarbon receptor nuclear translocator isoform X30 [Homo
            sapiens].
ACCESSION   XP_047276699
VERSION     XP_047276699.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420743.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..772
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..772
                     /product="aryl hydrocarbon receptor nuclear translocator
                     isoform X30"
                     /calculated_mol_wt=85466
     Region          70..134
                     /region_name="bHLH-PAS_ARNT"
                     /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS)
                     domain found in aryl hydrocarbon receptor nuclear
                     translocator (ARNT) and similar proteins; cd18947"
                     /db_xref="CDD:381517"
     Site            order(74..75,78..79,82,85..86,90,111..112)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381517"
     Site            order(89,92,95..96,113,116..117,120,122..124,126)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:381517"
     Region          147..253
                     /region_name="PAS"
                     /note="PAS fold; pfam00989"
                     /db_xref="CDD:395786"
     Region          346..446
                     /region_name="PAS_11"
                     /note="PAS domain; pfam14598"
                     /db_xref="CDD:434060"
     Region          <587..696
                     /region_name="Nucleoporin_FG2"
                     /note="Nucleoporin FG repeated region; pfam15967"
                     /db_xref="CDD:435043"
     CDS             1..772
                     /gene="ARNT"
                     /gene_synonym="bHLHe2; HIF-1-beta; HIF-1beta; HIF1-beta;
                     HIF1B; HIF1BETA; TANGO"
                     /coded_by="XM_047420743.1:105..2423"
                     /db_xref="GeneID:405"
                     /db_xref="HGNC:HGNC:700"
                     /db_xref="MIM:126110"
ORIGIN      
        1 myhhwvqplp letldlefkv eeplsrglls gdqaglkyll laflrldfdd dgegnskflr
       61 cdddqmsndk erfarenhse ierrrrnkmt ayitelsdmv ptcsalarkp dkltilrmav
      121 shmkslrgtg ntstdgsykp sfltdqelkh lileaadgfl fivscetgrv vyvsdsvtpv
      181 lnqpqsewfg stlydqvhpd dvdklreqls tsenaltgri ldlktgtvkk egqqssmrmc
      241 mgsrrsficr mrcgsssvdp vsvnrlsfvr nrcrnglgsv kdgephfvvv hctgyikawp
      301 pagvslpddd peagqgskfc lvaigrlqvt sspnctdmsn vcqptefisr hniegiftfv
      361 dhrcvatvgy qpqellgkni vefchpedqq llrdsfqqvv klkgqvlsvm frfrsknqew
      421 lwmrtssftf qnpysdeiey iictntnvkn ssqeprptls ntiqrpqlgp tanlplemgs
      481 gqlaprqqqq qteldmvpgr dglasynhsq vvqpvtttgp ehskpleksd glfaqdrdpr
      541 fseiyhnina dqskgissst vpatqqlfsq gntfpptprp aenfrnsgla ppvtivqpsa
      601 sagqmlaqis rhsnptqgat ptwtpttrsg fsaqvatqat aktrtsqfgv gsfqtpssfs
      661 smslpgapta spgaaaypsl tnrgsnfape tgqtagqfqt rtaegvgvwp qwqgqqphhr
      721 sssseqhvqq ppaqqpgqpe vfqemlsmlg dqsnsynnee fpdltmfppf se
//
LOCUS       XP_047280266             712 aa            linear   PRI 20-MAR-2023
DEFINITION  kin of IRRE-like protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047280266
VERSION     XP_047280266.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424310.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..712
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..712
                     /product="kin of IRRE-like protein 1 isoform X2"
                     /calculated_mol_wt=78298
     Region          <2..55
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          61..158
                     /region_name="IgI_2_KIRREL3-like"
                     /note="Second immunoglobulin (Ig)-like domain of Kirrel
                     (kin of irregular chiasm-like) 3, and similar domains;
                     member of the I-set of Ig superfamily (IgSF) domains;
                     cd05759"
                     /db_xref="CDD:409416"
     Region          62..65
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409416"
     Region          68..72
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409416"
     Region          79..86
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409416"
     Region          91..96
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409416"
     Region          99..101
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409416"
     Region          104..111
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409416"
     Region          118..126
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409416"
     Region          135..143
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409416"
     Region          149..155
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409416"
     Region          162..243
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          179..183
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          193..197
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          236..239
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          247..328
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          264..268
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          277..281
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          309..313
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          323..328
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          337..340
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          346..443
                     /region_name="IgI_5_KIRREL3"
                     /note="Fifth immunoglobulin (Ig)-like domain of Kirrel
                     (kin of irregular chiasm-like) 3 protein; member of the
                     I-set of Ig superfamily (IgSF) domains; cd05898"
                     /db_xref="CDD:409479"
     Region          347..351
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409479"
     Region          353..356
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409479"
     Region          364..371
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409479"
     Region          378..383
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409479"
     Region          385..388
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409479"
     Region          396..403
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409479"
     Region          406..413
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409479"
     Region          424..431
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409479"
     Region          434..441
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409479"
     CDS             1..712
                     /gene="KIRREL1"
                     /gene_synonym="KIRREL; NEPH1; NPHS23"
                     /coded_by="XM_047424310.1:413..2551"
                     /db_xref="GeneID:55243"
                     /db_xref="HGNC:HGNC:15734"
                     /db_xref="MIM:607428"
ORIGIN      
        1 mgqglkawpr yrvvgsadag qynleitdae lsddasyecq ateaalrsrr akltvlippe
       61 dtridggpvi llqagtphnl tcrafnakpa atiiwfrdgt qqegavaste llkdgkrett
      121 vsqllinptd ldigrvftcr smneaipsgk etsieldvhh pptvtlsiep qtvqegervv
      181 ftcqatanpe ilgyrwakgg fliedahesr yetnvdysff tepvscevhn kvgstnvstl
      241 vnvhfapriv vdpkptttdi gsdvtltcvw vgnppltltw tkkdsnmgpr ppgsppeaal
      301 saqvlsnsnq lllksvtqad agtytcraiv prigvaerev plyvngppii sseavqyavr
      361 gdggkvecfi gstpppdria wawkenflev gtlerytver tnsgsgvlst ltinnvmead
      421 fqthynctaw nsfgpgtaii qleerevlpv giiagatiga sillifffia lvfflyrrrk
      481 gsrkdvtlrk ldikvetvnr epltmhsdre ddtasvstat rvmkaiyssf kddvdlkqdl
      541 rcdtidtree yemkdptngy ynvrahedrp ssravlyady rapgparfdg rpssrlshss
      601 gyaqlntysr gpasdygpep tppgpaapag tdttsqlsye nyekfnshpf pgaagyptyr
      661 lgypqappsg lertpyeayd pigkyatatr fsytsqhsdy gqrfqqrmqt hv
//
LOCUS       XP_047281133             393 aa            linear   PRI 20-MAR-2023
DEFINITION  tubulin beta-8 chain isoform X2 [Homo sapiens].
ACCESSION   XP_047281133
VERSION     XP_047281133.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425177.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..393
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..393
                     /product="tubulin beta-8 chain isoform X2"
                     /calculated_mol_wt=43141
     Region          <112..375
                     /region_name="beta_tubulin"
                     /note="The beta-tubulin family; cd02187"
                     /db_xref="CDD:276956"
     Site            order(194..196,200,205,207..209,271..273,276,296..300)
                     /site_type="other"
                     /note="beta/alpha domain interface [polypeptide binding]"
                     /db_xref="CDD:276956"
     CDS             1..393
                     /gene="TUBB8"
                     /gene_synonym="bA631M21.2; OOMD; OOMD2"
                     /coded_by="XM_047425177.1:20..1201"
                     /db_xref="GeneID:347688"
                     /db_xref="HGNC:HGNC:20773"
                     /db_xref="MIM:616768"
ORIGIN      
        1 mnmpstplap ttgtatcsws astctttrpa vagtcpalcs wiwsrapwtl cargpsgrss
       61 gqttsssgkl lscnsggggf icstcranga ltsrvtlgsf cimvvttddr ipgrrvtgca
      121 vlqvsdtvve pynatlsvhq lienadetfc idnealydic sktlklptpt ygdlnhlvsa
      181 tmsgvttclr fpgqlnadlr klavnmvpfp rlhffmpgfa pltsrgsqqy raltvaeltq
      241 qmfdaknmma acdprhgryl taaaifrgrm pmrevdeqmf niqdknssyf adwlpnnvkt
      301 avcdipprgl kmsatfignn taiqelfkrv seqftamfrr kaflhwytge gmdemeftea
      361 esnmndlvse yqqyqdatae eeedeeyaee eva
//
LOCUS       XP_011518017             324 aa            linear   PRI 20-MAR-2023
DEFINITION  1,5-anhydro-D-fructose reductase isoform X1 [Homo sapiens].
ACCESSION   XP_011518017
VERSION     XP_011518017.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011519715.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_011518017.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..324
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..324
                     /product="1,5-anhydro-D-fructose reductase isoform X1"
                     /calculated_mol_wt=37054
     CDS             1..324
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /coded_by="XM_011519715.3:16..990"
                     /db_xref="GeneID:83592"
                     /db_xref="HGNC:HGNC:23437"
                     /db_xref="MIM:617451"
ORIGIN      
        1 mqvifstapw pnlpraqasp gkvteavkea idagyrhfdc ayfyhnerev gagirckike
       61 gavrredlfi atklwctchk kslvetacrk slkalklnyl dlylihwpmg fkpphpewim
      121 scselsfcls hprvqdlpld esnmvipsdt dfldtweame dlvitglvkn igvsnfnheq
      181 lerllnkpgl rfkpltnqie chpyltqknl isfcqsrdvs vtayrplggs cegvdlidnp
      241 vikriakehg kspaqilirf qiqrnvivip gsitpshike niqvfdfelt qhdmdnilsl
      301 nrnlrlamfp itknhkdypf hiey
//
LOCUS       XP_047281957            1760 aa            linear   PRI 20-MAR-2023
DEFINITION  disks large homolog 5 isoform X8 [Homo sapiens].
ACCESSION   XP_047281957
VERSION     XP_047281957.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426001.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1760
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1760
                     /product="disks large homolog 5 isoform X8"
                     /calculated_mol_wt=196666
     Region          <1..54
                     /region_name="Takusan"
                     /note="pfam04822"
                     /db_xref="CDD:428143"
     Region          <40..248
                     /region_name="PRK04778"
                     /note="septation ring formation regulator EzrA;
                     Provisional"
                     /db_xref="CDD:179877"
     Region          <179..477
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          461..548
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(475..478,480,532..533,536..537)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          563..631
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Region          715..>1144
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          1188..1270
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(1200..1203,1205,1251..1252,1255..1256)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1268..1340
                     /region_name="dbPDZ_assoc"
                     /note="Unstructured region between two PDZ domains on
                     Dlg5; pfam16610"
                     /db_xref="CDD:435460"
     Region          1340..1423
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(1353..1355,1357,1404,1406,1409..1410)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1438..1500
                     /region_name="SH3_DLG5"
                     /note="Src homology 3 domain of Disks Large homolog 5;
                     cd11860"
                     /db_xref="CDD:212794"
     Site            order(1440,1457..1458)
                     /site_type="other"
                     /note="GuK domain interface [polypeptide binding]"
                     /db_xref="CDD:212794"
     Site            order(1443,1445,1448,1452,1474..1475,1493,1495..1496)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212794"
     Region          1573..1749
                     /region_name="GuKc"
                     /note="Guanylate kinase homologues; smart00072"
                     /db_xref="CDD:214504"
     CDS             1..1760
                     /gene="DLG5"
                     /gene_synonym="LP-DLG; P-DLG5; PDLG"
                     /coded_by="XM_047426001.1:137..5419"
                     /db_xref="GeneID:9231"
                     /db_xref="HGNC:HGNC:2904"
                     /db_xref="MIM:604090"
ORIGIN      
        1 mtrernelrk rlafathgta fdkrlnpdye rlkiqcvram sdlqslqnqh tnalkrceev
       61 aketdfyhtl hsrllsdqtr lkddvdmlrr engqllrern llqqswedmk rlheedqkei
      121 gdlraqqqqv lkhngsseil nklydtamdk levvkkdyda lrkrysekva ihnadlsrle
      181 qlgeenqrll kqtemltqqr dtaiqlqhqc alslrrfeai hhelnkataq nkdlqwemel
      241 lqseltelrt tqvktakese kyreerdavy seyklimser dqviseldkl qtevelaesk
      301 lksstsekka aneemealrq ikdtvtmdag rankeveilr kqckalcqel kealqeadva
      361 kcrrdwafqe rdkivaerds irtlcdnlrr erdravsela ealrslddtr kqkndvsrel
      421 kelkeqmesq lekearfrql mahsshdsai dtdsmewete vvefereted idlkalgfdm
      481 aegvnepcfp gdcgifvtkv dkgsiadgrl rvndwllrin dvdlinkdkk qaikallnge
      541 gainmvvrrr kslggkvvtp lhinlsgqkd sgislengvy aaavlpgspa akegslavgd
      601 rivaingial dnkslneces llrscqdslt lsllkvfpqs sswsgqnife nikdsdkmls
      661 frahgpevqa hnkrnliqhn nstqtdifyt drledrkepg ppggsssflh kpfpggplqv
      721 cpqacpsase rslssfrsda sgdrgfglvd vrgrrpllpf etevgpcgvg easldkadse
      781 gsnsggtwpk amlsstavpe klsvykkpkq rksifdpntf krpqtppkid yllpgpgpah
      841 spqpskragp ltppkpprrs dsikfqhrle tsseseatlv gsspstspps alppdvdpge
      901 pmhaspprka rvriassyyp egdgdsshlp akkscdedlt sqkvdelgqk rrrpksapsf
      961 rpklapvvip aqfleeqkcv pasgelspel qewapyspgh ssrhsnpply psrpsvgtvp
     1021 rsltpsttvs silrnpiytv rshrvgpcss ppaardagpq glhpsvqhqg rlsldlshrt
     1081 csdysemrat hgsnslpssa rlgsssnlqf kaerikipst pryprsvvgs ergsvshsec
     1141 stppqsplni dtlsscsqsq tsastlpria vnpaslgerr kdrpyveepr hvkvqkgsep
     1201 lgisivsgek ggiyvskvtv gsiahqagle ygdqllefng inlrsateqq arliigqqcd
     1261 titilaqynp hvhqlsshsr ssshldpagt hstlqgsgtt tpehpsvidp lmeqdegpst
     1321 ppakqsssri agdankktle prvvfikksq lelgvhlcgg nlhgvfvaev eddspakgpd
     1381 glvpgdlile ygsldvrnkt veevyvemlk prdgvrlkvq yrpeeftkak glpgdsfyir
     1441 alydrladve qelsfkkddi lyvddtlpqg tfgswmawql denaqkiqrg qipskyvmdq
     1501 efsrrlsmse vkddnsatkt lsaaarrsff rrkhkhkrsg skdgkdllal dafssdsipl
     1561 fedsvslayq rvqkvdctal rpvlilgpll dvvkemlvne apgkfcrcpl evmkasqqai
     1621 ergvkdclfv dykrrsghfd vttvasikei teknrhclld iaphaierlh hmhiypivif
     1681 ihyksakhik eqrdpiylrd kvtqrhskeq feaaqkleqe ysryftgviq ggalssictq
     1741 ilamvnqeqn kvlwipacpl
//
LOCUS       XP_047282233             487 aa            linear   PRI 20-MAR-2023
DEFINITION  CUGBP Elav-like family member 1 isoform X5 [Homo sapiens].
ACCESSION   XP_047282233
VERSION     XP_047282233.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426277.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..487
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..487
                     /product="CUGBP Elav-like family member 1 isoform X5"
                     /calculated_mol_wt=52003
     Region          15..98
                     /region_name="RRM1_CELF1_2_Bruno"
                     /note="RNA recognition motif 1 (RRM1) found in CUGBP
                     Elav-like family member CELF-1, CELF-2, Drosophila
                     melanogaster Bruno protein and similar proteins; cd12631"
                     /db_xref="CDD:410040"
     Site            order(19,21..22,25,46..49,51..52,59..61,63,93,95,97..98)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410040"
     Region          107..187
                     /region_name="RRM2_CELF1_2"
                     /note="RNA recognition motif 2 (RRM2) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12634"
                     /db_xref="CDD:410042"
     Site            order(109,111,113..114,117,136,138,140,148..150,152,
                     178..179,182,184,186..187)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410042"
     Region          395..486
                     /region_name="RRM3_CELF1_2"
                     /note="RNA recognition motif 3 (RRM3) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12638"
                     /db_xref="CDD:241082"
     CDS             1..487
                     /gene="CELF1"
                     /gene_synonym="BRUNOL2; CUG-BP; CUGBP; CUGBP1; EDEN-BP;
                     hNab50; NAB50; NAPOR"
                     /coded_by="XM_047426277.1:2864..4327"
                     /db_xref="GeneID:10658"
                     /db_xref="HGNC:HGNC:2549"
                     /db_xref="MIM:601074"
ORIGIN      
        1 mngtldhpdq pdldaikmfv gqvprtwsek dlrelfeqyg avyeinvlrd rsqnppqskg
       61 ccfvtfytrk aaleaqnalh nmkvlpgmhh piqmkpadse knnavedrkl figmiskkct
      121 endirvmfss fgqieecril rgpdglsrgc afvtfttram aqtaikamhq aqtmegcssp
      181 mvvkfadtqk dkeqkrmaqq lqqqmqqisa asvwgnlagl ntlgpqylal ylqllqqtas
      241 sgnlntlssl hpmgglnamq lqnlaalaaa asaaqntpsg tnalttsssp lsvltssags
      301 spsssssnsv npiaslgalq tlagatagln vgslagmaal ngglgssgls ngtgstmeal
      361 tqaysgiqqy aaaalptlyn qnlltqqsig aagsqkegpe ganlfiyhlp qefgdqdllq
      421 mfmpfgnvvs akvfidkqtn lskcfgfvsy dnpvsaqaai qsmngfqigm krlkvqlkrs
      481 kndskpy
//
LOCUS       XP_047282409             598 aa            linear   PRI 20-MAR-2023
DEFINITION  angiomotin-like protein 1 isoform X8 [Homo sapiens].
ACCESSION   XP_047282409
VERSION     XP_047282409.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426453.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..598
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..598
                     /product="angiomotin-like protein 1 isoform X8"
                     /calculated_mol_wt=67439
     Region          383..>598
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          555..>598
                     /region_name="Angiomotin_C"
                     /note="Angiomotin C terminal; pfam12240"
                     /db_xref="CDD:432418"
     CDS             1..598
                     /gene="AMOTL1"
                     /gene_synonym="JEAP"
                     /coded_by="XM_047426453.1:157..1953"
                     /db_xref="GeneID:154810"
                     /db_xref="HGNC:HGNC:17811"
                     /db_xref="MIM:614657"
ORIGIN      
        1 mwraklrrgt cepavkvedp lcnfhspnfl risevemrgs edaaagtvlq rliqeqlryg
       61 tptenmnlla iqhqatgsag pahptnnfss tenltqedpq mvyqsarqep qgqehqvdnt
      121 vmekqvrstq pqqnneelpt yeeakaqsqf frgqqqqqqq qgavghgyym aggtsqksrt
      181 egrptvnran sgqahkdeal kelkqghvrs lserimqlsl erngakqhlp gsgngkgfkv
      241 gggpspaqpa gkvldprgpp peypfktkqm mspvsktqeh glfygdqhpg mlhemvkpyp
      301 apqpvrtdva vlryqpppey gvtsrpcqlp fpstmqqhsp mssqtssasg plhsvslplp
      361 lpmalgapqp ppaaspsqql gpdafaiver aqqmveilte enrvlhqelq gyydnadklh
      421 kfekelqris eayeslvkst tkresldkam rnklegeirr lhdfnrdlrd rletanrqls
      481 sreyeghedk aaeghyasqn keflkekekl emelaavrta sedhrrhiei ldqalsnaqa
      541 rvikleeelr ekqayvekve klqqaltqlq sacekreqme rrlrtwlere ldalrtqq
//
LOCUS       XP_047282972            2115 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear mitotic apparatus protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_047282972
VERSION     XP_047282972.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427016.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2115
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..2115
                     /product="nuclear mitotic apparatus protein 1 isoform X3"
                     /calculated_mol_wt=238129
     Region          6..152
                     /region_name="HkD_NuMA"
                     /note="Hook domain found in nuclear mitotic apparatus
                     protein (NuMA) and similar proteins; cd22224"
                     /db_xref="CDD:411795"
     Site            order(107,121,124..125,127..128,131..132,135)
                     /site_type="other"
                     /note="putative LIC-binding interface [polypeptide
                     binding]"
                     /db_xref="CDD:411795"
     Region          <217..741
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          563..>1331
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          1015..>1731
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          1746..>2016
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          1870..1928
                     /region_name="NuMA_LGNBD"
                     /note="LGN binding domain (LGNBD) of nuclear mitotic
                     apparatus protein (NuMA) and similar proteins; cd22298"
                     /db_xref="CDD:412093"
     Site            order(1870,1873..1878,1898..1900,1903..1904,1906,
                     1908..1912,1916..1921,1923)
                     /site_type="other"
                     /note="LGN binding site [polypeptide binding]"
                     /db_xref="CDD:412093"
     CDS             1..2115
                     /gene="NUMA1"
                     /gene_synonym="NMP-22; NUMA"
                     /coded_by="XM_047427016.1:118..6465"
                     /db_xref="GeneID:4926"
                     /db_xref="HGNC:HGNC:8059"
                     /db_xref="MIM:164009"
ORIGIN      
        1 mtlhatrgaa llswvnslhv adpveavlql qdcsifikii drihgteegq qilkqpvser
       61 ldfvcsflqk nrkhpsspec lvsaqkvleg selelakmtm lllyhstmss ksprdweqfe
      121 ykiqaelavi lkfvldhedg lnlnedlenf lqkapvpstc sstfpeelsp pshqakreir
      181 flelqkvass ssgnnflsgs paspmgdilq tpqfqmrrlk kqladersnr delelelaen
      241 rklltekdaq iammqqridr lallnekqaa splepkelee lrdknesltm rlhetlkqcq
      301 dlkteksqmd rkinqlseen gdlsfklref ashlqqlqda lnelteehsk atqewlekqa
      361 qlekelsaal qdkkcleekn eilqgklsql eehlsqlqdn ppqekgevlg dvlqletlkq
      421 eaatlaannt qlqarvemle tergqqeakl laerghfeee kqqlsslitd lqssisnlsq
      481 akeeleqasq ahgarltaqv asltselttl natiqqqdqe laglkqqake kqaqlaqtlq
      541 qqeqasqglr hqveqlsssl kqkeqqlkev aekqeatrqd haqqlataae ereaslrerd
      601 aalkqleale kekaakleil qqqlqvanea rdsaqtsvtq aqrekaelsr kveelqacve
      661 tarqeqheaq aqvaelelql rseqqkatek ervaqekdql qeqlqalkes lkvtkgslee
      721 ekrraadale eqqrciselk aetrslveqh krerkeleee ragrkglear lqqlgeahqa
      781 etevlrrela eamaaqhtae seceqlvkev aawreryeds qqeeaqygam fqeqlmtlke
      841 ecekarqelq eakekvagie shselqisrq qnelaelhan laralqqvqe kevraqklad
      901 dlstlqekma atskevarle tlvrkageqq etasrelvke paragdrqpe wleeqqgrqf
      961 cstqaalqam ereaeqmgne lerlraalme sqgqqqeerg qqerevarlt qergraqadl
     1021 alekaarael emrlqnalne qrvefatlqe alahalteke gkdqelaklr gleaaqikel
     1081 eelrqtvkql keqlakkeke hasgsgaqse aagrteptgp klealraevs kleqqcqkqq
     1141 eqadslersl eaerasraer dsaletlqgq leekaqelgh sqsalasaqr elaafrtkvq
     1201 dhskaedewk aqvargrqea erknslissl eeevsilnrq vlekegeske lkrlvmaese
     1261 ksqkleerlr llqaetasns araaerssal reevqslree aekqrvasen lrqeltsqae
     1321 raeelgqelk awqekffqke qalstlqleh tstqalvsel lpakhlcqql qaeqaaaekr
     1381 hreeleqskq aagglraell raqrelgeli plrqkvaeqe rtaqqlraek asyaeqlsml
     1441 kkahgllaee nrglgeranl grqfleveld qarekyvqel aavradaetr laevqreaqs
     1501 tarelevmta kyegakvkvl eerqrfqeer qkltaqveql evfqreqtkq veelskklad
     1561 sdqaskvqqq klkavqaqgg esqqeaqrlq aqlnelqaql sqkeqaaehy klqmekakth
     1621 ydakkqqnqe lqeqlrsleq lqkenkelra eaerlghelq qaglktkeae qtcrhltaqv
     1681 rsleaqvaha dqqlrdlgkf qvatdalksr epqakpqldl sidsldlsce egtplsitsk
     1741 lprtqpdgts vpgepaspis qrlppkvesl eslyftpipa rsqaplessl dslgdvflds
     1801 grktrsarrr ttqiinitmt kkldveepds anssfystrs apasqaslra tsstqslarl
     1861 gspdygnsal lslpgyrptt rssarrsqag vssgappgrn sfymgtcqde peqlddwnri
     1921 aelqqrnrvc pphlktcypl esrpslslgt itdeemktgd pqetlrrasm qpiqiaegtg
     1981 ittrqqrkrv slephqgpgt peskkatscf prpmtprdrh egrkqsttea qkkaapastk
     2041 qadrrqsmaf silntpkklg nsllrrgask kalskaspnt rsgtrrspri atttasaata
     2101 aaigatprak gkakh
//
LOCUS       XP_006718942             316 aa            linear   PRI 20-MAR-2023
DEFINITION  FAD-dependent oxidoreductase domain-containing protein 1 isoform X3
            [Homo sapiens].
ACCESSION   XP_006718942
VERSION     XP_006718942.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006718879.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..316
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..316
                     /product="FAD-dependent oxidoreductase domain-containing
                     protein 1 isoform X3"
                     /calculated_mol_wt=35090
     Region          <9..308
                     /region_name="DadA"
                     /note="Glycine/D-amino acid oxidase (deaminating) [Amino
                     acid transport and metabolism]; COG0665"
                     /db_xref="CDD:223737"
     CDS             1..316
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /coded_by="XM_006718879.4:323..1273"
                     /db_xref="GeneID:55572"
                     /db_xref="HGNC:HGNC:26927"
                     /db_xref="MIM:613622"
ORIGIN      
        1 mesnvkvqrq egakvslmsp dqlrnkfpwi ntegvalasy gmedegwfdp wcllqglrrk
       61 vqslgvlfcq gevtrfvsss qrmlttddka vvlkrihevh vkmdrsleyq pvecaivina
      121 agawsaqiaa lagvgegppg tlqgtklpve prkryvyvwh cpqgpgletp lvadtsgayf
      181 rreglgsnyl ggrspteqee pdpanlevdh dffqdkvwph lalrvpafet lkvqsawagy
      241 ydyntfdqng vvgphplvvn myfatgfsgh glqqapgigr avaemvlkgr fqtidlspfl
      301 ftrfylgeki qennii
//
LOCUS       XP_047283222             160 aa            linear   PRI 20-MAR-2023
DEFINITION  single-pass membrane and coiled-coil domain-containing protein 4
            isoform X4 [Homo sapiens].
ACCESSION   XP_047283222
VERSION     XP_047283222.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427266.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..160
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..160
                     /product="single-pass membrane and coiled-coil
                     domain-containing protein 4 isoform X4"
                     /calculated_mol_wt=17309
     CDS             1..160
                     /gene="SMCO4"
                     /gene_synonym="C11orf75; FN5"
                     /coded_by="XM_047427266.1:262..744"
                     /db_xref="GeneID:56935"
                     /db_xref="HGNC:HGNC:24810"
                     /db_xref="MIM:609477"
ORIGIN      
        1 mypgitqvtc tgnqfaeinq rflklkkrrf qpwqeecgps wnpsghtlla ssrkdaaaqr
       61 eaqegdlqgq egaeashagg paadhysgaa hagrgraldr gvcvrghaph hhrvspaagc
      121 gphrqgeear egdankkwls ysemfmllsc kqehpvfsgl
//
LOCUS       XP_024304464             254 aa            linear   PRI 20-MAR-2023
DEFINITION  2-acylglycerol O-acyltransferase 2 isoform X2 [Homo sapiens].
ACCESSION   XP_024304464
VERSION     XP_024304464.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024448696.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..254
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..254
                     /product="2-acylglycerol O-acyltransferase 2 isoform X2"
                     /calculated_mol_wt=28032
     Region          3..215
                     /region_name="LPLAT"
                     /note="Lysophospholipid acyltransferases (LPLATs) of
                     glycerophospholipid biosynthesis; cl17185"
                     /db_xref="CDD:450169"
     Site            order(28,31,54..57,105..107)
                     /site_type="active"
                     /note="putative acyl-acceptor binding pocket [active]"
                     /db_xref="CDD:153249"
     CDS             1..254
                     /gene="MOGAT2"
                     /gene_synonym="DGAT2L5; DGAT2L5.; hDC5; MGAT2"
                     /coded_by="XM_024448696.2:272..1036"
                     /db_xref="GeneID:80168"
                     /db_xref="HGNC:HGNC:23248"
                     /db_xref="MIM:610270"
ORIGIN      
        1 mkdyfpislv ktaeldpsrn yiagfhphgv lavgafanlc testgfssif pgirphlmml
       61 tlwfrapffr dyimsaglvt sekesaahil nrkgggnllg iivggaqeal darpgsftll
      121 lrnrkgfvrl althgaplvp ifsfgendlf dqipnssgsw lryiqnrlqk imgislplfh
      181 grgvfqysfg lipyrrpitt vellpeerte elpsqpgrtr erdelgpswf fpgmreatag
      241 qrggvegkee lpgl
//
LOCUS       XP_047283686             350 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 25 isoform X12 [Homo sapiens].
ACCESSION   XP_047283686
VERSION     XP_047283686.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427730.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..350
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..350
                     /product="transmembrane protein 25 isoform X12"
                     /calculated_mol_wt=37026
     Region          <22..86
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     CDS             1..350
                     /gene="TMEM25"
                     /coded_by="XM_047427730.1:611..1663"
                     /db_xref="GeneID:84866"
                     /db_xref="HGNC:HGNC:25890"
                     /db_xref="MIM:613934"
ORIGIN      
        1 malppgpaal rhtllllpal lssggpgtpr lawyldgqlq eastsrllsv ggeafsggts
       61 tftvtahraq helncslqdp rsgrsanasv ilnvqfkpei aqvgakyqea qgpgllvvlf
      121 alvranppan vtwidqdgpv tvntsdflvl daqnypwltn htvqlqlrsl ahnlsvvatn
      181 dvgvtsaslp apgllatrve vpllgivvaa glalgtlvgf stlvaclvcr kekktkgpsr
      241 hpslissdsn nlklnnvrlp renmslpsnl qlndltpdsr avkpadrqma qnnsrpelld
      301 pepgglltsq acllhhgtpa ltnpwlphqq egalpggwsp qahnstvwkl
//
LOCUS       XP_047283710             773 aa            linear   PRI 20-MAR-2023
DEFINITION  liprin-beta-2 isoform X12 [Homo sapiens].
ACCESSION   XP_047283710
VERSION     XP_047283710.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427754.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..773
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..773
                     /product="liprin-beta-2 isoform X12"
                     /calculated_mol_wt=87593
     Region          <26..>212
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          412..475
                     /region_name="SAM_liprin-beta1,2_repeat1"
                     /note="SAM domain of liprin-beta1,2 proteins repeat 1;
                     cd09563"
                     /db_xref="CDD:188962"
     Region          486..548
                     /region_name="SAM_liprin-beta1,2_repeat2"
                     /note="SAM domain of liprin-beta1,2 proteins repeat 2;
                     cd09566"
                     /db_xref="CDD:188965"
     Region          571..642
                     /region_name="SAM_liprin-beta1,2_repeat3"
                     /note="SAM domain of liprin-beta proteins repeat 3;
                     cd09569"
                     /db_xref="CDD:188968"
     CDS             1..773
                     /gene="PPFIBP2"
                     /gene_synonym="Cclp1"
                     /coded_by="XM_047427754.1:226..2547"
                     /db_xref="GeneID:8495"
                     /db_xref="HGNC:HGNC:9250"
                     /db_xref="MIM:603142"
ORIGIN      
        1 mgklitrmwk llrrrsapke llsrtsletq kldlmtevse lklklvgmek eqreqeekqr
       61 kaeellqelr hlkikveele nernqyewkl katkaevaql qeqvalkdae ierlhsqlsr
      121 taalhsesht erdqeiqrlk mgmetlllan edkdrrieel tgllnqyrkv keivmvtqgp
      181 sertlsinee epeggfskwn atnkdpeelf kqempprcss ptvgppplpq ksletraqkk
      241 lscsledlrs esvdkcmdgn qpfpvlepkd spflaehkyp tlpgklsgat pngeaakspp
      301 ticqpdatgs sllrlrdtes gwddtavvnd lsstssgtes gpqspltpdg krnpkgikkf
      361 wgkirrtqsg nfytdtlgma efrrgglrat agprlsrtrd skgqksdana pfaqwsterv
      421 cawledfgla qyvifarqwv ssghtlltat pqdmekelgi khplhrkklv lavkaintkq
      481 eeksalldhi wvtrwlddig lpqykdqfhe srvdrrmlqy ltvndllflk vtsqlhhlsi
      541 kcaihvlhvn kfnphclhrr padesnlsps evvqwsnhrv mewlrsvdla eyapnlrgsg
      601 vhggliilep rftgdtlaml lnippqktll rrhlttkfna ligpeaeqek rekmaspayt
      661 pltttakvrp rklgfshfgn irkkkfdest dyicpmepsd gvsdshrvys gyrglsplda
      721 peldgldqma psegtvtqig llsqdihrlt tmlsqdqlln dsrlpapnsd dwr
//
LOCUS       XP_011543698            1243 aa            linear   PRI 20-MAR-2023
DEFINITION  membrane-associated phosphatidylinositol transfer protein 1 isoform
            X3 [Homo sapiens].
ACCESSION   XP_011543698
VERSION     XP_011543698.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011545396.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1243
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1243
                     /product="membrane-associated phosphatidylinositol
                     transfer protein 1 isoform X3"
                     /calculated_mol_wt=134588
     Region          1..257
                     /region_name="SRPBCC_PITPNM1-2_like"
                     /note="Lipid-binding SRPBCC domain of mammalian PITPNM1-2
                     and related proteins (Class IIA PITPs); cd08889"
                     /db_xref="CDD:176898"
     Site            order(21..22,25,29,32,40,59,61,63,65,68,70,73,77,81..82,
                     84,86,88,90,95,97,99,102..103,109,111,191,197,199,209,
                     217..219,222)
                     /site_type="other"
                     /note="putative lipid binding site [chemical binding]"
                     /db_xref="CDD:176898"
     Site            65..83
                     /site_type="active"
                     /note="putative lipid exchange loop [active]"
                     /db_xref="CDD:176898"
     Site            order(118..147,153..177,185..186)
                     /site_type="active"
                     /note="putatative regulatory loop [active]"
                     /db_xref="CDD:176898"
     Site            164
                     /site_type="other"
                     /note="putative PKC phosphorylation site
                     [posttranslational modification]"
                     /db_xref="CDD:176898"
     Region          688..878
                     /region_name="DDHD"
                     /note="DDHD domain; pfam02862"
                     /db_xref="CDD:427021"
     Region          943..1028
                     /region_name="Peptidase_M14NE-CP-C_like"
                     /note="Peptidase associated domain: C-terminal domain of
                     M14 N/E carboxypeptidase; putative folding, regulation, or
                     interaction domain; cl21470"
                     /db_xref="CDD:451257"
     Region          1022..1153
                     /region_name="LNS2"
                     /note="This domain is found in Saccharomyces cerevisiae
                     protein SMP2, proteins with an N-terminal lipin domain and
                     phosphatidylinositol transfer proteins; smart00775"
                     /db_xref="CDD:197870"
     CDS             1..1243
                     /gene="PITPNM1"
                     /gene_synonym="DRES9; NIR2; PITPNM; Rd9; RDGB; RDGB1;
                     RDGBA; RDGBA1"
                     /coded_by="XM_011545396.4:218..3949"
                     /db_xref="GeneID:9600"
                     /db_xref="HGNC:HGNC:9003"
                     /db_xref="MIM:608794"
ORIGIN      
        1 mlikeyhill pmsldeyqva qlymiqkksr eessgegsgv eilanrpytd gpggsgqyth
       61 kvyhvgship gwfrallpka alqveeeswn aypytrtryt cpfvekfsie ietyylpdgg
      121 qqpnvfnlsg aerrqrildt idivrdavap geykaeedpr lyhsvktgrg plsddwarta
      181 aqtgplmcay klckvefryw gmqakieqfi hdvglrrvml rahrqawcwq dewtelsmad
      241 iraleeetar mlaqrmakcn tgsegseaqp pgkpstears aasntgtpdg peappgpdas
      301 pdasfgkqws sssrssyssq hggavspqsl sewrmqniar dsensseeef fdahgfsdse
      361 evfpkemtkw nsndfidafa spveaegtpe pgaeaakgie dgaqaprdse gldgagelga
      421 eacavhalfl ilhsgnilds gpgdanskqa dvqtlssafe avtrihfpea lghvalrlvp
      481 cppicaaaya lvsnlspysh dgdslsrsqd hiplaalpll atsssryqga vatviartnq
      541 aysaflrspe gagfcgqval igdgvggilg fdalchsana gtgsrgssrr gsmnnellsp
      601 efgpvrdpla dgveglgrgs pepsalppqr ipsdmaspep egsqnslqaa pattsswepr
      661 rastafcppa asseapdgps starldfkvs gfflfgsplg lvlalrktvm paleaaqmrp
      721 aceqiynlfh aadpcasrle pllapkfqai apltvpryqk fplgdgssll ladtlqthss
      781 lfleelemlv pstptstsga fwkgselatd ppaqpaapst tsevvkiler wwgtkridys
      841 lycpealtaf ptvtlphlfh asywesadvv afilrqviek erpqlaecee psiyspafpr
      901 ekwqrkrtqv kirnvtsnhr asdtvvcegr pqvlsgrfmy gpldvvtltg ekvdvyimtq
      961 plsgkwihfg tevtnssgrl tfpvpperal gigvypvrmv vrgdhtyaec cltvvargte
     1021 avvfsidgsf tasvsimgsd pkvragavdv vrhwqdsgyl ivyvtgrpdm qkhrvvawls
     1081 qhnfphgvvs fcdglthdpl rqkamflqsl vqevelniva gygspkdvav yaalglspsq
     1141 tyivgravrk lqaqcqflsd gyvahlgqle agshshassg ppraalgkss ygvaapvdfl
     1201 rkqsqllrsr gpsqaeregp gtppttlarg karsislkld see
//
LOCUS       XP_006719980             913 aa            linear   PRI 20-MAR-2023
DEFINITION  cilium assembly protein DZIP1 isoform X3 [Homo sapiens].
ACCESSION   XP_006719980
VERSION     XP_006719980.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006719917.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..913
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..913
                     /product="cilium assembly protein DZIP1 isoform X3"
                     /calculated_mol_wt=103249
     Region          104..224
                     /region_name="Dzip-like_N"
                     /note="Iguana/Dzip1-like DAZ-interacting protein
                     N-terminal; pfam13815"
                     /db_xref="CDD:433498"
     Region          244..268
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275369"
     Region          244..267
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Site            order(244,251,253..255,257..258,262,266)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275369"
     Region          <277..>488
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..913
                     /gene="DZIP1"
                     /gene_synonym="DZIP; DZIPt1; MVP3; SPGF47"
                     /coded_by="XM_006719917.3:856..3597"
                     /db_xref="GeneID:22873"
                     /db_xref="HGNC:HGNC:20908"
                     /db_xref="MIM:608671"
ORIGIN      
        1 mqaeaadwfs smvrggrpgr prrgcragen rgfpgppapq parppspppa alslcppqpf
       61 qkhvyyplas gpegpdvava aaaagaasma cappsaasgp lpffqfrprl esvdwrrlsa
      121 idvdkvagav dvltlqenim nitfcklede kcphcqsgvd pvllklirla qftieyllhs
      181 qefltsqlht leerlrlshc dgeqskkllt kqageiktlk eeckrrkkmi stqqlmieak
      241 anyyqchfcd kafmnqaflq shiqrrhtee nshfeyqkna qieklrseiv vlkeelqltr
      301 seleaahhas avrfskeyem qktkeedflk lfdrwkeeek eklvdemekv kemfmkefke
      361 ltsknsaley qlseiqksnm qiksnigtlk dahefkedrs pypqdfhnvm qlldsqeskw
      421 tarvqaihqe hkkekgrlls hieklrtsmi ddlnasnvfy kkrieelgqr lqeqneliit
      481 qrqqikdftc nplnsisepk gnplawqafe sqpaapavpm napalhtlet ksslpmvheq
      541 afsshilepi eelseeekgr eneqklnnnk mhlrkalksn ssltkglrtm veqnlmekle
      601 tlginadirg issdqlhrvl ksveserhkq ereipnfhqi reflehqvsc kieekallss
      661 dqcsvsqmdt lstgevpkmi qlpsknrqli rqkavstdrt svpkikknvm edpfprksst
      721 ittppfssee eqedddlira yaspgplpvp ppqnkgsfgk ntvksdadgt egseiedtdd
      781 spkpagvavk tptekvekmf phrknvnkpv ggtnvpemfi kkeelqelkc advededwdi
      841 ssleeeislg kksgkeqkep ppaknephfa hvlnawgafn pkgpkgeglq enesstlkss
      901 lvtvtdwsdt sdv
//
LOCUS       XP_047286672            1073 aa            linear   PRI 20-MAR-2023
DEFINITION  TSC22 domain family protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047286672
VERSION     XP_047286672.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430716.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1073
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..1073
                     /product="TSC22 domain family protein 1 isoform X1"
                     /calculated_mol_wt=109546
     Region          <685..899
                     /region_name="rne"
                     /note="ribonuclease E; Reviewed; PRK10811"
                     /db_xref="CDD:236766"
     Region          983..1061
                     /region_name="ZIP_TSC22D1"
                     /note="leucine zipper domain found in TSC22 domain family
                     protein 1; cd21938"
                     /db_xref="CDD:409278"
     Site            order(1001..1003,1006,1009..1010,1013..1014,1016..1017,
                     1020..1021,1023..1024,1027..1028,1031,1035)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:409278"
     CDS             1..1073
                     /gene="TSC22D1"
                     /gene_synonym="Ptg-2; TGFB1I4; TSC22"
                     /coded_by="XM_047430716.1:861..4082"
                     /db_xref="GeneID:8848"
                     /db_xref="HGNC:HGNC:16826"
                     /db_xref="MIM:607715"
ORIGIN      
        1 mhqppestaa aaaaadisar kmahpamfpr rgsgsgsasa lnaagtgvgs natssedfpp
       61 psllqppppa asstsgpqpp ppqslnllsq aqlqaqplap ggtqmkkksg fqitsvtpaq
      121 isasissnns iaedtesydd ldeshtedls sseildvsls ratdlgeper ssseetlnnf
      181 qeaetpgavs pnqphlpqph lphlpqqnvv ingnahphhl hhhhqihhgh hlqhghhhps
      241 hvavasasit ggppsspvsr klsttgssds itpvaptsav sssgspasvm tnmrapsttg
      301 giginsvtgt stvnnvnita vgsfnpnvts smlgnvnist snipsaagvs vgpgvtsgvn
      361 vnilsgmgng tisssaavss vpnaaagmtg gsvssqqqqp tvntsrfrvv kldsssepfk
      421 kgrwtctefy ekenavpate gvlinkvvet vkqnpievts erestsgssv sssvstlshy
      481 tesvgsgemg aptvvvqqqq qqqqqqqqqp alqgvtlqqm dfgstgpqsi pavsipqsis
      541 qsqisqvqlq sqelsyqqkq glqpvplqat msaatgiqps pvnvvgvtsa lgqqpsissl
      601 aqpqlpysqa appvqtplpg apppqqlqyg qqqpmvstqm apghvksvtq npaseyvqqq
      661 pilqtamssg qpssagvgag ttvipvaqpq giqlpvqpta vpaqpagasv qpvgqapaav
      721 savptgsqia nigqqanipt avqqpstqvp psviqqgapp ssqvvppaqt giihqgvqts
      781 apslpqqlvi asqsslltvp pqpqgvepva qgivsqqlpa vsslpsassi svtsqvsstg
      841 psgmpsaptn lvppqniaqt patqngnlvq svsqppliat ntnlplaqqi plsstqfsaq
      901 slaqaigsqi edarraaeps lvglpqtisg dsggmsavsd gsssslaasa slfplkvlpl
      961 ttplvdgede sssgasvvai dnkieqamdl vkshlmyavr eevevlkeqi kelieknsql
     1021 eqennllktl aspeqlaqfq aqlqtgsppa ttqpqgttqp paqpasqgsg pta
//
LOCUS       XP_047287773             898 aa            linear   PRI 20-MAR-2023
DEFINITION  stonin-2 isoform X4 [Homo sapiens].
ACCESSION   XP_047287773
VERSION     XP_047287773.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431817.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..898
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..898
                     /product="stonin-2 isoform X4"
                     /calculated_mol_wt=100299
     Region          1..340
                     /region_name="Stonin2_N"
                     /note="Stonin 2; pfam12016"
                     /db_xref="CDD:403289"
     Region          559..876
                     /region_name="AP_stonin-2_MHD"
                     /note="Mu homology domain (MHD) of adaptor-like protein
                     (AP-like), stonin-2; cd09263"
                     /db_xref="CDD:271169"
     CDS             1..898
                     /gene="STON2"
                     /gene_synonym="STN2; STNB; STNB2"
                     /coded_by="XM_047431817.1:743..3439"
                     /db_xref="GeneID:85439"
                     /db_xref="HGNC:HGNC:30652"
                     /db_xref="MIM:608467"
ORIGIN      
        1 mttldhviat hqsewvsfne eppfpahsqg gteehlpgls sspdqsesss genhvvdggs
       61 qdhshseqdd ssekmglise aasppgspeq pppdlasais nwvqfeddtp wastspphqe
      121 taetalpltm pcwtcpsfds lgrcpltses swtthsedts spsfgcsytd lqlinaeeqt
      181 sgqasgadst dnssslqede evemeaiswq asspamnghp appvtsarfp swvtfddnev
      241 scplppvtsp lkpntppsas vipdvpynsm gsfkkrdrpk stlmnfskvq kldisslnrt
      301 psvteaspwr atnpflnetl qdvqpspinp fsaffeeqer rsqnssisst tgksqrdsli
      361 viyqdaisfd dssktqshsd aveklkqlqi ddpdhfgsat lpdddpvawi eldahppgsa
      421 rsqprdgwpm mlripekkni mssrhwgpif vkltdtgylq lyyeqglekp frefkleich
      481 eiseprlqny dengrihslr idrvtykekk kyqpkpavah taereqvikl gttnyddfls
      541 fihavqdrlm dlpvlsmdls tvglnyleee itvdvrdefs givskgdnqi lqhhvltrih
      601 ilsflsglae crlglndilv kgneivlrqd impttttkwi klhecrfhgc vdedvfhnsr
      661 vilfnpldac rfelmrfrtv faektlpftl rtatsvngae vevqswlrms tgfsanrdpl
      721 tqvpcenvmi rypvpsewvk nfrresvlge kslkakvnrg asfgstsvsg sepvmrvtlg
      781 takyehafns ivwrinrlpd knsasghphc ffchlelgsd revpsrfanh vnvefsmptt
      841 saskasvrsi svedktdvrk wvnysahysy qveieqkksl kpdfegdeme npkecgvq
//
LOCUS       XP_047288591             440 aa            linear   PRI 20-MAR-2023
DEFINITION  myelin expression factor 2 isoform X7 [Homo sapiens].
ACCESSION   XP_047288591
VERSION     XP_047288591.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432635.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..440
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..440
                     /product="myelin expression factor 2 isoform X7"
                     /calculated_mol_wt=46309
     Region          <1..16
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     Region          73..148
                     /region_name="RRM2_MYEF2"
                     /note="RNA recognition motif 2 (RRM2) found in vertebrate
                     myelin expression factor 2 (MEF-2); cd12660"
                     /db_xref="CDD:410061"
     Region          364..440
                     /region_name="RRM3_MYEF2"
                     /note="RNA recognition motif 3 (RRM3) found in vertebrate
                     myelin expression factor 2 (MEF-2); cd12662"
                     /db_xref="CDD:410063"
     CDS             1..440
                     /gene="MYEF2"
                     /gene_synonym="HsT18564; MEF-2; MST156; MSTP156; myEF-2"
                     /coded_by="XM_047432635.1:143..1465"
                     /db_xref="GeneID:50804"
                     /db_xref="HGNC:HGNC:17940"
                     /db_xref="MIM:619395"
ORIGIN      
        1 mnkydlsgrp lnikedpdge narralqrtg gsfpgghvpd mgsglmnlpp silnnpnipp
       61 evisnlqagr lgstifvanl dfkvgwkklk evfsiagtvk radikedkdg ksrgmgtvtf
      121 eqaieavqai smfngqflfd rpmhvkmddk svpheeyrsh dgktpqlprg lggigmglgp
      181 ggqpisasql niggvmgnlg pggmgmdgpg fggmnriggg igfggleamn smggfggvgr
      241 mgelyrgamt ssmerdfgrg diginrgfgd sfgrlgsami ggfagrigss nmgpvgsgis
      301 ggmgsmnsvt ggmgmgldrm sssfdrmgpg igailersid mdrgflsgpm gsgmrerigs
      361 kgnqifvrnl pfdltwqklk ekfsqcghvm faeikmengk skgcgtvrfd spesaekacr
      421 imngikisgr eidvrldrna
//
LOCUS       XP_047288653             208 aa            linear   PRI 20-MAR-2023
DEFINITION  AN1-type zinc finger protein 6 isoform X1 [Homo sapiens].
ACCESSION   XP_047288653
VERSION     XP_047288653.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432697.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..208
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..208
                     /product="AN1-type zinc finger protein 6 isoform X1"
                     /calculated_mol_wt=22424
     Region          12..35
                     /region_name="zf-A20"
                     /note="A20-like zinc finger; pfam01754"
                     /db_xref="CDD:426411"
     Region          149..186
                     /region_name="ZnF_AN1"
                     /note="AN1-like Zinc finger; smart00154"
                     /db_xref="CDD:197545"
     CDS             1..208
                     /gene="ZFAND6"
                     /gene_synonym="AWP1; ZA20D3; ZFAND5B"
                     /coded_by="XM_047432697.1:216..842"
                     /db_xref="GeneID:54469"
                     /db_xref="HGNC:HGNC:30164"
                     /db_xref="MIM:610183"
ORIGIN      
        1 maqetnhsqv pmlcstgcgf ygnprtngmc svcykehlqr qnssngrisp patsvsslse
       61 slpvqctdgs vpeaqsalds tsssmqpspv snqsllsesv assqldstsv dkavpetedv
      121 qasvsdtaqq pseeqsksle kpkqkknrcf mcrkkvgltg fecrcgnvyc gvhrysdvhn
      181 csynykadaa ekirkenpvv vgekiqki
//
LOCUS       XP_016879251             552 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM234A isoform X1 [Homo sapiens].
ACCESSION   XP_016879251
VERSION     XP_016879251.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017023762.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..552
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..552
                     /product="protein FAM234A isoform X1"
                     /calculated_mol_wt=59529
     CDS             1..552
                     /gene="FAM234A"
                     /gene_synonym="C16orf9; gs19; ITFG3"
                     /coded_by="XM_017023762.2:304..1962"
                     /db_xref="GeneID:83986"
                     /db_xref="HGNC:HGNC:14163"
ORIGIN      
        1 mldhkdleae ihplkneerk sqenlgnpsk nednvksapp qsrlsrcraa afflslflcl
       61 fvvfvvsfvi pcpdrpasqr mwridysaav iydflavddi ngdriqdvlf lykntnssnn
      121 fsrscvdegf sspctfaaav sgangstlwe rpvaqdvalv ecavpqprgs eapsacilvg
      181 rpssfiavnl ftgetlwnhs ssfsgnasil spllqvpdvd gdgapdllvl tqereevsgh
      241 lysgstghqi glrgslgvdg esgfllhvtr tgahyilfpc asslcgcsvk glyekvtgsg
      301 gpfksdphwe smlnattrrm lshssgavry lmhvpgnaga dvllvgseaf vlldgqeltp
      361 rwtpkaahvl rkpifgrykp dtlavaveng tgtdrqilfl dlgtgavlcs lalpslpggp
      421 lsaslptadh rsafffwglh elgstsetet gearhslymf hptlprvlle lanvsthiva
      481 fdavlfepsr haayilltgp adseapglvs vikhkvrdlv pssrvvrlge ggpdsdqair
      541 drfsrlryqs ea
//
LOCUS       XP_011523084             201 aa            linear   PRI 20-MAR-2023
DEFINITION  ADP-ribosylation factor-like protein 4D isoform X1 [Homo sapiens].
ACCESSION   XP_011523084
VERSION     XP_011523084.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011524782.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..201
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..201
                     /product="ADP-ribosylation factor-like protein 4D isoform
                     X1"
                     /calculated_mol_wt=22024
     Region          19..201
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            28..35
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206648"
     Site            order(30..36,79,135..136,138,169..171)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206648"
     Site            52
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206648"
     Site            56..58
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206648"
     Site            76..79
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206648"
     Site            order(78..79,95..96)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206648"
     Site            135..138
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206648"
     Site            169..171
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206648"
     CDS             1..201
                     /gene="ARL4D"
                     /gene_synonym="ARF4L"
                     /coded_by="XM_011524782.3:130..735"
                     /db_xref="GeneID:379"
                     /db_xref="HGNC:HGNC:656"
                     /db_xref="MIM:600732"
ORIGIN      
        1 mgnhltemap tassflphfq alhvvvigld sagktsllyr lkfkefvqsv ptkgfnteki
       61 rvplggsrgi tfqvwdvggq eklrplwrsy trrtdglvfv vdaaeaerle eakvelhris
      121 rasdnqgvpv lvlankqdqp galsaaevek rlavrelaaa tlthvqgcsa vdglglqqgl
      181 erlyemilkr kkaarggkkr r
//
LOCUS       XP_024306708             273 aa            linear   PRI 20-MAR-2023
DEFINITION  PHD finger protein 23 isoform X3 [Homo sapiens].
ACCESSION   XP_024306708
VERSION     XP_024306708.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024450940.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..273
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..273
                     /product="PHD finger protein 23 isoform X3"
                     /calculated_mol_wt=29543
     Region          211..254
                     /region_name="PHD_PHF23"
                     /note="PHD finger found in PHD finger protein 23 (PHF23);
                     cd15631"
                     /db_xref="CDD:277101"
     Site            order(218,220..225,232,242,245..247)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:277101"
     CDS             1..273
                     /gene="PHF23"
                     /gene_synonym="hJUNE-1b"
                     /coded_by="XM_024450940.2:391..1212"
                     /db_xref="GeneID:79142"
                     /db_xref="HGNC:HGNC:28428"
                     /db_xref="MIM:612910"
ORIGIN      
        1 mklkdslfdl dgpkvaspls ptslthtsrp paaltpvpls qgdlshpprk kdrknrklgp
       61 gagagfgvlr rprptpgdge krsrikkskk rklkkaergd rlpppgppqa ppsdtdseee
      121 eeeeeeeeee ematvvggea pvpvlptppe aprppatvhp egvppadses kevgstetsq
      181 dgdasssege mrvmdedimv esgddswdli tcycrkpfag rpmiecslcg twihlscaki
      241 kktnvpdffy cqkckelrpe arrlggppks gep
//
LOCUS       XP_006722416             306 aa            linear   PRI 20-MAR-2023
DEFINITION  low-density lipoprotein receptor class A domain-containing protein
            4 isoform X1 [Homo sapiens].
ACCESSION   XP_006722416
VERSION     XP_006722416.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006722353.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..306
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..306
                     /product="low-density lipoprotein receptor class A
                     domain-containing protein 4 isoform X1"
                     /calculated_mol_wt=33769
     Region          16..47
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(17,25,37..38)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(30,33,37,43..44)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            40..44
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     CDS             1..306
                     /gene="LDLRAD4"
                     /gene_synonym="C18orf1"
                     /coded_by="XM_006722353.2:753..1673"
                     /db_xref="GeneID:753"
                     /db_xref="HGNC:HGNC:1224"
                     /db_xref="MIM:606571"
ORIGIN      
        1 mpeagfqatn afteckftct sgkclylgsl vcnqqndcgd nsdeencllv tehpppgifn
       61 selefaqiii ivvvvtvmvv vivcllnhyk vstrsfinrp nqsrrredgl pqegclwpsd
      121 saaprlgase imhaprsrdr ftapsfiqrd rfsrfqptyp yvqheidlpp tislsdgeep
      181 ppyqgpctlq lrdpeqqmel nresvrappn rtifdsdlid iamysggpcp pssnsgisas
      241 tcssngrmeg ppptysevmg hhpgasflhh qrsnahrgsr lqfqqnnaes tivpikgkdr
      301 kpgnlv
//
LOCUS       XP_005258960             636 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 790 isoform X2 [Homo sapiens].
ACCESSION   XP_005258960
VERSION     XP_005258960.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005258903.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..636
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..636
                     /product="zinc finger protein 790 isoform X2"
                     /calculated_mol_wt=74441
     Region          5..64
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          145..164
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          172..192
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <183..361
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          201..220
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          228..248
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          256..276
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          284..304
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(289,291,293,295..296,299..300,303,317,319,323..324,
                     327..328,331,345,347,349,351..352,355..356,359)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          308..>575
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          312..332
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          340..360
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          368..388
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          396..416
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          424..444
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          452..472
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          480..500
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(485,487,489,491..492,495..496,499,513,515,519..520,
                     523..524,527,541,543,545,547..548,551..552,555)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          508..528
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          536..556
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          564..583
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..636
                     /gene="ZNF790"
                     /coded_by="XM_005258903.6:138..2048"
                     /db_xref="GeneID:388536"
                     /db_xref="HGNC:HGNC:33114"
ORIGIN      
        1 mahlmmfrdv avdfsqeewe cldleqrdly rdvmlenysn mvslgfciyq peafsllekg
       61 kepwkilrde trgpcpdmqs rcqtkkllpk ngifereiaq leimricknh sldclcfrgd
      121 wegntqfqtl qdnqeecfkq virtcekrpt fnqhtvfnlh qrlntgdkln efkelgkafi
      181 sgsdhtqhql ihtsekfcgd kecgntflpd seviqyqtvh tvkktyecke cgksfslrss
      241 ltghkrihtg ekpfkckdcg kafrfhsqls vhkrihtgek syeckecgka fscgsdltrh
      301 qrihtgekpy ecnecrkafs qrshlikhqr ihtgekpyec kecgkaftrg shltqhqrih
      361 tgekshecke cgkafirgsn laqhqnvhvg rkpykcekcg kayiwsshla rhqrihtgrk
      421 pyeckqcgkt ftwasylaqh ekihnerksy eckecgktfl hgsefnrhqk ihtgernyec
      481 kecgktffrg selnrhqkih tgkrpyecee cgkaflwgsq ltrhqrmhtg eepyvckecg
      541 ksfiwgsqlt rhkkihtdae pygckksshi fshhsyfteq kihnsanlce wtdygntfsh
      601 esnfaqhqni ytfeksyefk dfekafssss hfisll
//
LOCUS       XP_011525580             549 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 155 isoform X1 [Homo sapiens].
ACCESSION   XP_011525580
VERSION     XP_011525580.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011527278.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..549
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..549
                     /product="zinc finger protein 155 isoform X1"
                     /calculated_mol_wt=63236
     Region          19..78
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          189..209
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          213..>497
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          217..237
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(222,224,226,228..229,232..233,236,250,252,256..257,
                     260..261,264,278,280,282,284..285,288..289,292)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          245..265
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(245,248,261,265)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          273..293
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          301..321
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          329..349
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          357..377
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          385..405
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          413..433
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(418,420,422,424..425,428..429,432,446,448,452..453,
                     456..457,460,474,476,478,480..481,484..485,488)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          441..461
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(441,444,457,461)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          469..489
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..549
                     /gene="ZNF155"
                     /gene_synonym="pHZ-96"
                     /coded_by="XM_011527278.4:186..1835"
                     /db_xref="GeneID:7711"
                     /db_xref="HGNC:HGNC:12940"
                     /db_xref="MIM:604086"
ORIGIN      
        1 mikrskvlvf cskimeeavt fkdvavvfte eelglldpaq rklyrdvmle nfrnllsvgh
       61 qpfhqdtchf lreekfwmmg tatqregnsg gkiqtelesv peagaheews cqqiweqiak
      121 dltrsqdsii nnsqffengd vpsqveaglp tihtgqkpsq ggkckqsisd vpifdlpqql
      181 yseeksytcd ecgksicyis alhvhqrvhv geklfmcdvc gkefsqsshl qthqrvhtge
      241 kpfkceqcgk gfsrrsalnv hrklhtgekp yiceacgkaf ihdsqlkehk rihtgekpfk
      301 cdicgktfyf rsrlkshsmv htgekpfrcd tcdksfhqrs alnrhcmvht gekpyrceqc
      361 gkgfigrldf ykhqvvhtge kpynckecgk sfrwssclln hqrvhsgeks fkceecgkgf
      421 ytnsqlsshq rshsgekpyk ceecgkgyvt kfnldlhqrv htgerpynck ecgknfsras
      481 silnhkrlhc qkkpfkcedc gkrlvhrtyr kdqprdysge npskcedcgr rykrrlnldi
      541 llslflndt
//
LOCUS       XP_047295572             818 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 160 isoform X1 [Homo sapiens].
ACCESSION   XP_047295572
VERSION     XP_047295572.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439616.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..818
                     /product="zinc finger protein 160 isoform X1"
                     /calculated_mol_wt=93981
     Region          8..68
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          <216..332
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          259..279
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          287..307
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          315..335
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(320,322,324,326..327,330..331,334,348,350,354..355,
                     358..359,362,376,378,380,382..383,386..387,390)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          327..351
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          343..363
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          367..810
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          371..391
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          399..419
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          427..447
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          455..475
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          483..503
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(488,490,492,494..495,498..499,502,516,518,522..523,
                     526..527,530,544,546,548,550..551,554..555,558)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          511..531
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          539..559
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          567..587
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          595..615
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          623..643
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(628,630,632,634..635,638..639,642,656,658,662..663,
                     666..667,670,684,686,688,690..691,694..695,698)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          651..671
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          679..699
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          707..727
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          735..755
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          763..783
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          791..811
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..818
                     /gene="ZNF160"
                     /gene_synonym="F11; HKr18; HZF5; KR18"
                     /coded_by="XM_047439616.1:409..2865"
                     /db_xref="GeneID:90338"
                     /db_xref="HGNC:HGNC:12948"
                     /db_xref="MIM:600398"
ORIGIN      
        1 maltqvrltf rdvaiefsqe ewkcldpaqr ilyrdvmlen ywnlvslglc hfdmniisml
       61 eegkepwtvk scvkiarkpr tpecvkgvvt dippkctikd llpkeksste avfhtvvler
      121 hespdiedfs fkepqknvhd fecqwrddtg nykgvlmaqk egkrdqrdrr dienklmnnq
      181 lgvsfhshlp elqlfqgegk myecnqveks tnngssvspl qqipssvqth rskkyhelnh
      241 fslltqrrka nscgkpykcn ecgkaftqns nltshrrihs gekpykcsec gktftvrsnl
      301 tihqvihtge kpykchecgk vfrhnsylat hrrihtgekp ykcnecgkaf rghsnltthq
      361 lihtgekpfk cnecgklftq nshlishwri htgekpykcn ecgkafsvrs slaihqtiht
      421 gekpykcnec gkvfrynsyl grhrrvhtge kpykcnecgk afsmhsnlat hqvihtgtkp
      481 fkcnecskvf tqnsqlanhr rihtgekpyk cnecgkafsv rssltthqai hsgekpykci
      541 ecgksftqks hlrshrgihs gekpykcnec gkvfaqtsql arhwrvhtge kpykcndcgr
      601 afsdrssltf hqaihtgekp ykchecgkvf rhnsylathr rihtgekpyk cnecgkafsm
      661 hsnltthkvi htgekpykcn qcgkvftqns hlanhqrtht gekpyrcnec gkafsvrssl
      721 tthqaihtgk kpykcnecgk vftqnahlan hrrihtgekp yrctecgkaf rvrssltthm
      781 aihtgekryk cnecgkvfrq ssnlashhrm htgekpyk
//
LOCUS       XP_047301492             195 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor expression-enhancing protein 1 isoform X7 [Homo sapiens].
ACCESSION   XP_047301492
VERSION     XP_047301492.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445536.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..195
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..195
                     /product="receptor expression-enhancing protein 1 isoform
                     X7"
                     /calculated_mol_wt=21357
     Region          13..88
                     /region_name="TB2_DP1_HVA22"
                     /note="TB2/DP1, HVA22 family; pfam03134"
                     /db_xref="CDD:427159"
     CDS             1..195
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; SPG31; Yip2a"
                     /coded_by="XM_047445536.1:74..661"
                     /db_xref="GeneID:65055"
                     /db_xref="HGNC:HGNC:25786"
                     /db_xref="MIM:609139"
ORIGIN      
        1 mcllglifgt lypayysyka vkskdikeyv kwmmywiifa lfttaetftd iflcwfpfyy
       61 elkiafvawl lspytkgssl lyrkfvhptl sskekeiddc lvqakdrsyd alvhfgkrgl
      121 nvaataavma askgqgalse rlrsfsmqdl ttirgdgapa psgppppgsg rasgkhgqpk
      181 msrsasesas ssgta
//
LOCUS       XP_016883169             400 aa            linear   PRI 20-MAR-2023
DEFINITION  isthmin-1 isoform X1 [Homo sapiens].
ACCESSION   XP_016883169
VERSION     XP_016883169.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027680.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..400
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..400
                     /product="isthmin-1 isoform X1"
                     /calculated_mol_wt=44680
     Region          221..262
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     CDS             1..400
                     /gene="ISM1"
                     /gene_synonym="bA149I18.1; C20orf82; dJ1077I2.1; ISM;
                     Isthmin"
                     /coded_by="XM_017027680.2:504..1706"
                     /db_xref="GeneID:140862"
                     /db_xref="HGNC:HGNC:16213"
                     /db_xref="MIM:615793"
ORIGIN      
        1 mvrlaaelll llglllltlh itvlrgsgaa dgpdaaagna sqaqlqnnln vgsdttsets
       61 fslskeapre hldhqaahqp fprprfrqet ghpslqrdfp rsflldlpnf pdlskading
      121 qnpniqvtie vvdgpdsead kdqhpenkps wsvpspdwra wwqrslslar ansgdqdyky
      181 dstsddsnfl npprgwdhta pghrtfetkd qpeydstdge gdwslwsvcs vtcgngnqkr
      241 trscgyacta tesrtcdrpn cpgiedtfrt aatevsllag seefnatklf evgsvptrel
      301 ldarnrepld lsdhqrvptg qpdkwewlyh fhlqhqyvsv pyihilscyt ssptlgmnff
      361 yfshsnryiv vsqhvvslis lafhdvehfs cvslpfinpf
//
LOCUS       XP_016883170             720 aa            linear   PRI 20-MAR-2023
DEFINITION  RIPOR family member 3 isoform X3 [Homo sapiens].
ACCESSION   XP_016883170
VERSION     XP_016883170.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027681.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..720
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..720
                     /product="RIPOR family member 3 isoform X3"
                     /calculated_mol_wt=79421
     Region          <1..137
                     /region_name="PL48"
                     /note="Filopodia upregulated, FAM65; pfam15903"
                     /db_xref="CDD:435006"
     CDS             1..720
                     /gene="RIPOR3"
                     /gene_synonym="C20orf175; C20orf176; FAM65C"
                     /coded_by="XM_017027681.1:86..2248"
                     /db_xref="GeneID:140876"
                     /db_xref="HGNC:HGNC:16168"
ORIGIN      
        1 mrlgrqrwkl kgriesddsq twdeeekafi ptlhenldik vtelrglgsl avgavtcdia
       61 dffttrpqvi vvditelgti klqlevqwnp fdtesflvsp sptgkfsmgs rkgslynwtp
      121 pstpsfrery ylsvlqqptq qalllggpra tsilsylsds dlrgpslrsq sqelpemdsf
      181 ssedprdtet stsastsdvg flpltfgpha sieeearedp lppgllpema hlsggpfaeq
      241 pgwrnlgges pslpqgslfh sgtasssqng heegatgdre dgpgvalegp lqevlellrp
      301 tdstqpqlre leyqvlgfrd rlkpcrarqe htsaeslmec ilesfaflna dfaldelslf
      361 ggsqglrkdr plpppsslka ssreltagap eldvllmvhl qvckallqkl aspnlsrlvq
      421 eclleevaqq khvletlsvl dfekvgkats ieeiipqasr tkgclklwrg ctgpgrvlsc
      481 pattllnqlk ktfqhrvrgk ypgqleiacr rlleqvvscg gllpgaglpe eqiitwfqfh
      541 sylqrqsvsd lekhftqltk evtlieelhc agqakvvrkl qgkrlgqlqp lpqtlrawal
      601 lqldgtprvc raasarlaga vrnrsfreka llfytnalae ndarlqqaac lalkhlkgie
      661 sidqtaslcq sdleavraaa rettlsfgek grlafekmdk lcseqrevfc qeadveitif
//
LOCUS       XP_016883307             320 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ALEX isoform X8 [Homo sapiens].
ACCESSION   XP_016883307
VERSION     XP_016883307.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027818.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..320
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..320
                     /product="protein ALEX isoform X8"
                     /calculated_mol_wt=37382
     Region          1..314
                     /region_name="G-alpha"
                     /note="Alpha subunit of G proteins (guanine nucleotide
                     binding); cd00066"
                     /db_xref="CDD:206639"
     Site            order(19,23,27,30,33..34,54,57,98,127,152,160,164)
                     /site_type="active"
                     /note="GoLoco binding site [active]"
                     /db_xref="CDD:206639"
     Site            125..133
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206639"
     Site            130
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206639"
     Site            order(131,133,135,146,148,152..154,156,159..160,162..165)
                     /site_type="other"
                     /note="beta - gamma complex interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:206639"
     Site            order(133,158,161..162,165)
                     /site_type="other"
                     /note="adenylyl cyclase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:206639"
     Site            149..152
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206639"
     Site            150..166
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206639"
     Site            218..221
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206639"
     Site            order(283..294,296..299)
                     /site_type="active"
                     /note="putative receptor binding site [active]"
                     /db_xref="CDD:206639"
     Site            291..293
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206639"
     CDS             1..320
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /coded_by="XM_017027818.3:86..1048"
                     /db_xref="GeneID:2778"
                     /db_xref="HGNC:HGNC:4392"
                     /db_xref="MIM:139320"
ORIGIN      
        1 mrilhvngfn gdekatkvqd iknnlkeaie tivaamsnlv ppvelanpen qfrvdyilsv
       61 mnvpdfdfpp efyehakalw edegvracye rsneyqlidc aqyfldkidv ikqadyvpsd
      121 qdllrcrvlt sgifetkfqv dkvnfhmfdv ggqrderrkw iqcfndvtai ifvvasssyn
      181 mvirednqtn rlqealnlfk siwnnrwlrt isvilflnkq dllaekvlag kskiedyfpe
      241 faryttpeda tpepgedprv trakyfirde flristasgd grhycyphft cavdtenirr
      301 vfndcrdiiq rmhlrqyell
//
LOCUS       XP_047297185            2180 aa            linear   PRI 20-MAR-2023
DEFINITION  calcineurin-binding protein cabin-1 isoform X14 [Homo sapiens].
ACCESSION   XP_047297185
VERSION     XP_047297185.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441229.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2180
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..2180
                     /product="calcineurin-binding protein cabin-1 isoform X14"
                     /calculated_mol_wt=241756
     Region          <14..165
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          36..64
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(37,40..41,44..45,47,80,83..84,87..88,90..91,114,
                     117..118,121..122,125)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          78..108
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          113..141
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(1011,1014..1015,1018..1019,1021,1045,1048..1049,
                     1052..1053,1055,1061,1096,1099..1100,1103..1104,1107)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          1011..1038
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1043..1090
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          <1874..2117
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          2116..2150
                     /region_name="MEF2_binding"
                     /note="MEF2 binding; pfam09047"
                     /db_xref="CDD:370261"
     CDS             1..2180
                     /gene="CABIN1"
                     /gene_synonym="CAIN; KB-318B8.7; PPP3IN"
                     /coded_by="XM_047441229.1:139..6681"
                     /db_xref="GeneID:23523"
                     /db_xref="HGNC:HGNC:24187"
                     /db_xref="MIM:604251"
ORIGIN      
        1 miriaalnas stieddhegs fkshktqtke aqeaeafaly hkaldlqkhd rfeesakayh
       61 elleasllre avmldstdvn lwykighval rliriplarh afeeglrcnp dhwpcldnli
      121 tvlytlsdyt tclyfickal ekdcryskgl vlkekifeeq pclrkdslrm flkcdmsihd
      181 vsvsaaetqa ivdealglrk krqalivrek epdlklvqpi pfftwkclge sllamynhlt
      241 tcepprpslg kridlsdyqd psqplessmv vtpvnviqps tvstnpavav aepvvsytsv
      301 attsfplhsp glletgapvg disggdkskk gvkrkkisee sgetakrrsa rvrntkckke
      361 ekvdfqellm kflpsrlrkl dpeeeddsfn nyevqseakl esfpsigpqr lsfdsatfme
      421 sekqdvhefl lenltnggil elmmrylkam ghkflvrwpp glaevvlsvy hswrrhstsl
      481 pnpllrdcsn khikdmmlms lscmelqldq wlltkgrssa vsprncpagm vngrfgpdfp
      541 gthclgdllq lsfassqrdl fedgwlefvv rvywlkarfl alqgdmeqal enydicteml
      601 qsstaiqvea gaerrdivir lpnlhndsvv sleeidknlk slercqslee iqrlyeagdy
      661 kavvhllrpt lctsgfdrak hlefmtsipe rpaqllllqd sllrlkdyrq cfecsdvaln
      721 eavqqmvnsg eaaakeewva tvtqllmgie qalsadssgs ilkvsssttg lvrltnnliq
      781 vidcsmavqe eakephvssv lpwiilhrii wqeedtfhsl chqqqlqnpa eegmsetpml
      841 psslmllnta heylgrrswc cnsdgallrf yvrvlqkela astsedthpy keeletaleq
      901 cfyclysfps kkskarylee hsaqqvdliw edalfmfeyf kpktlpefds yktstvsadl
      961 anllkriati vprterpals ldkvsayieg tstevpclpe gadpsppvvn elyylladyh
     1021 fknkeqskai kfymhdicic pnrfdswagm alarasriqd klnsnelksd gpiwkhatpv
     1081 lncfrralei dssnlslwie ygtmsyalhs fasrqlkqwr gelppelvqq megrrdsmle
     1141 takhcftsaa rcegdgdeee wlihymlgkv aekqqqpptv yllhyrqagh ylheeaaryp
     1201 kkihyhnppe lamealevyf rlhasilkll gkpdsgvgae vlvnfmkeaa egpfargeek
     1261 ntpkasekek aclvdedshs sagtlpgpga slpsssgpgl tsppytatpi dhdyvkckkp
     1321 hqqatpddrs qdstavalsd ssstqdffne ptsllegsrk sytekrlpil ssqagatgkd
     1381 lqgateergk neeslesteg fraaeqgvqk paaetpasac ipgkpsastp tlwdgkkrgd
     1441 lpgepvafpq glpagaeeqr qflteqcias frlclsrfpq hykslyrlaf lytyskthrn
     1501 lqwardvllg ssipwqqlqh mpaqglfcer nktnffngiw ripvdeidrp gsfawhmnrs
     1561 ivlllkvlaq lrdhstllkv ssmlqrtpdq gkkylrdadr qvlaqrafil tvkvledtls
     1621 elaegserpg pkvcglpgar mttdvshkas pedgqeglpq pkkppladgs gpgpepggkv
     1681 gllnhrpvam dagdsadqsg erkdkespra gptepmdtse atvchsdler tppllpgrpa
     1741 rdrgpesrpt elsleelsis arqqptpltp aqpapapapa tttgtraggh peeplsrlsr
     1801 krklledtes gktllldayr vwqqgqkgva ydlgrverim setymlikqh lpvkvdeeaa
     1861 leqavkfcqv hlgaaaqrqa sgdtpttpkh pkdsrenffp vtvvptapdp vpadsvqrps
     1921 dahtkprpal aaattiitcp psasastldq skdpgpprph rpeatpsmas lgpegeelar
     1981 vaegtsfppq eprhspqvkm aptsspaeph cwpaeaalgt gaeptcsqeg klrpeprrdg
     2041 eaqeaasetq plsspptaas skapssgsaq ppeghpgkpe psraksrplp nmpklvipsa
     2101 atkfppeitv tpptptllsp kgsiseetkq klksailsaq saanvrkesl cqpalevlet
     2161 ssqesslese tdedddymdi
//
LOCUS       XP_047297349             210 aa            linear   PRI 20-MAR-2023
DEFINITION  platelet-derived growth factor subunit B isoform X1 [Homo sapiens].
ACCESSION   XP_047297349
VERSION     XP_047297349.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441393.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..210
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..210
                     /product="platelet-derived growth factor subunit B isoform
                     X1"
                     /calculated_mol_wt=23535
     Region          1..62
                     /region_name="PDGF_N"
                     /note="Platelet-derived growth factor, N terminal region;
                     pfam04692"
                     /db_xref="CDD:398391"
     Site            order(64..67,103,105..108,123..126)
                     /site_type="active"
                     /note="receptor binding interface [active]"
                     /db_xref="CDD:238079"
     Region          66..149
                     /region_name="PDGF"
                     /note="PDGF/VEGF domain; pfam00341"
                     /db_xref="CDD:395270"
     Site            order(66,99,103,110,147,149)
                     /site_type="other"
                     /note="cysteine knot motif"
                     /db_xref="CDD:238079"
     Site            order(93,102)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238079"
     CDS             1..210
                     /gene="PDGFB"
                     /gene_synonym="c-sis; IBGC5; PDGF-2; PDGF2; SIS; SSV"
                     /coded_by="XM_047441393.1:146..778"
                     /db_xref="GeneID:5155"
                     /db_xref="HGNC:HGNC:8800"
                     /db_xref="MIM:190040"
ORIGIN      
        1 mlsdhsirsf ddlqrllhgd pgeedgaeld lnmtrshsgg eleslargrr slgsltiaep
       61 amiaecktrt evfeisrrli drtnanflvw ppcvevqrcs gccnnrnvqc rptqvqlrpv
      121 qvrkieivrk kpifkkatvt ledhlackce tvaaarpvtr spggsqeqra ktpqtrvtir
      181 tvrvrrppkg khrkfkhthd ktalketlga
//
LOCUS       XP_047297488             566 aa            linear   PRI 20-MAR-2023
DEFINITION  cell division control protein 45 homolog isoform X2 [Homo sapiens].
ACCESSION   XP_047297488
VERSION     XP_047297488.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441532.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..566
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..566
                     /product="cell division control protein 45 homolog isoform
                     X2"
                     /calculated_mol_wt=65438
     Region          19..561
                     /region_name="CDC45"
                     /note="CDC45-like protein; pfam02724"
                     /db_xref="CDD:426940"
     CDS             1..566
                     /gene="CDC45"
                     /gene_synonym="CDC45L; CDC45L2; MGORS7; PORC-PI-1"
                     /coded_by="XM_047441532.1:250..1950"
                     /db_xref="GeneID:8318"
                     /db_xref="HGNC:HGNC:1739"
                     /db_xref="MIM:603465"
ORIGIN      
        1 mfvsdfrkef yevvqsqrvl lfvasdvdal cackilqalf qcdhvqytlv pvsgwqelet
       61 aflehkeqfh yfilincgan vdlldilqpd edtiffvcdt hrpvnvvnvy ndtqikllik
      121 qdddlevpay edifrdeeed eehsgndsdg sepsekrtrl eeeiveqtmr rrqrrewear
      181 rrdilfdyeq yeyhgtssam vmfelawmls kdlndmlwwa ivgltdqwvq dkitqmkyvt
      241 dvgvlqrhvs rhnhrnedee ntlsvdctri sfeydlrlvl yqhwslhdsl cntsytaarf
      301 klwsvhgqkr lqefladmgl plkqvkqkfq amdislkenl remieesank fgmkdmrvqt
      361 fsihfgfkhk flasdvvfat mslmespekd gsgtdhfiqa ldslsrsnld klyhglelak
      421 kqlratqqti asclctnlvi sqgpflycsl megtpdvmlf srpaslslls khllksfvcs
      481 tknrrckllp lvmaaplsme hgtvtvvgip petdssdrkn ffgrafekaa estssrmlhn
      541 hfdlsvielk aedrskflda lislls
//
LOCUS       XP_024309437             320 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-L1 isoform X5 [Homo sapiens].
ACCESSION   XP_024309437
VERSION     XP_024309437.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453669.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..320
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..320
                     /product="cyclin-L1 isoform X5"
                     /calculated_mol_wt=37143
     Region          1..115
                     /region_name="CYCLIN_SF"
                     /note="Cyclin box fold superfamily; cl40454"
                     /db_xref="CDD:454757"
     CDS             1..320
                     /gene="CCNL1"
                     /gene_synonym="ania-6a; ANIA6A; BM-001; PRO1073"
                     /coded_by="XM_024453669.2:567..1529"
                     /db_xref="GeneID:57018"
                     /db_xref="HGNC:HGNC:20569"
                     /db_xref="MIM:613384"
ORIGIN      
        1 mylqvlecer nqtlvqtawn ymndslrtnv fvrfqpetia caciylaara lqiplptrph
       61 wfllfgttee eiqeicietl rlytrkkpny ellekevekr kvalqeaklk akglnpdgtp
      121 alstlggfsp askpssprev kaeekspisi nvktvkkepe drqqaskspy ngvrkdskrs
      181 rnsrsasrsr srtrsrsrsh tprrhynnrr srsgtyssrs rsrsrshses prrhhnhgsp
      241 hlkakhtrdd lkssnrhghk rkksrsrsqs ksrdhsdaak khrherghhr drrersrsfe
      301 rshkskhhgg srsghgrhrr
//
LOCUS       XP_047305443             641 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM13A isoform X16 [Homo sapiens].
ACCESSION   XP_047305443
VERSION     XP_047305443.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449487.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..641
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..641
                     /product="protein FAM13A isoform X16"
                     /calculated_mol_wt=74015
     CDS             1..641
                     /gene="FAM13A"
                     /gene_synonym="ARHGAP48; FAM13A1"
                     /coded_by="XM_047449487.1:229..2154"
                     /db_xref="GeneID:10144"
                     /db_xref="HGNC:HGNC:19367"
                     /db_xref="MIM:613299"
ORIGIN      
        1 maceimplqr llertirsav eqhlfdvnns ggqssedses gtlsassats arqrrrqske
       61 qdevrhgrdk glinkentps gfnhlddcil ntqevekvhk ntfgcagers kpkrqksstk
      121 lselhdnqdg lvnmeslnst rshertgpdd fewmsderkg nekdgghtqh fesptmkiqe
      181 hpslsdtkqq rnqdagdqee sfvsevpqsd ltalcdeknw eepipafssw qrensdsdea
      241 hlspqagrli rqlldedsdp mlsprfyayg qsrqylddte vppsppnshs fmrrrssslg
      301 syddeqedlt paqltrriqs lkkkirkfed rfeeekkyrp shsdkaanpe vlkwtndlak
      361 frrqlkeskl kiseedltpr mrqrsntlpk sfgsqleked ekkqelvdka ikpsveatle
      421 siqrklqekr aessrpedik dmtkdqiane kvalqkally yesihgrpvt knerqvmkpl
      481 ydryrlvkqi lsrantipii eeeegsedds nvkpdfmvtl ktdfsarcfl dqfeddadgf
      541 ispmddkips kcsqdtglsn lhaasipell ehlqemreek krirkklrdf ednffrqngr
      601 nvqkedrtpm aeeyseykhi kaklrllevl iskrdtdsks m
//
LOCUS       XP_005262989             168 aa            linear   PRI 20-MAR-2023
DEFINITION  hematopoietic prostaglandin D synthase isoform X1 [Homo sapiens].
ACCESSION   XP_005262989
VERSION     XP_005262989.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005262932.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..168
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..168
                     /product="hematopoietic prostaglandin D synthase isoform
                     X1"
                     /calculated_mol_wt=19806
     Region          4..>43
                     /region_name="GST_N_Sigma_like"
                     /note="GST_N family, Class Sigma_like; composed of GSTs
                     belonging to class Sigma and similar proteins, including
                     GSTs from class Mu, Pi and Alpha. GSTs are cytosolic
                     dimeric proteins involved in cellular detoxification by
                     catalyzing the conjugation of...; cd03039"
                     /db_xref="CDD:239337"
     Region          51..150
                     /region_name="GST_C_Sigma"
                     /note="C-terminal, alpha helical domain of Class Sigma
                     Glutathione S-transferases; cd10295"
                     /db_xref="CDD:198328"
     Site            order(51..52,54..56,58..60,62..63,66,99..100,103)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:198328"
     Site            order(58,61..62,65,69,115..117,120..121,123..124,127..128)
                     /site_type="other"
                     /note="N-terminal domain interface [polypeptide binding]"
                     /db_xref="CDD:198328"
     Site            order(65,68..69,72..73,125,128)
                     /site_type="other"
                     /note="substrate binding pocket (H-site) [chemical
                     binding]"
                     /db_xref="CDD:198328"
     CDS             1..168
                     /gene="HPGDS"
                     /gene_synonym="GSTS; GSTS1; GSTS1-1; PGD2; PGDS"
                     /coded_by="XM_005262932.4:52..558"
                     /db_xref="GeneID:27306"
                     /db_xref="HGNC:HGNC:17890"
                     /db_xref="MIM:602598"
ORIGIN      
        1 mpnykltyfn mrgraeiiry ifayldiqye dhrieqadwp eiksnlagnt emeqchvdai
       61 vdtlddfmsc fpwaekkqdv keqmfnellt ynaphlmqdl dtylggrewl ignsvtwadf
      121 yweicsttll vfkpdlldnh prlvtlrkkv qaipavanwi krrpqtkl
//
LOCUS       XP_047271677             183 aa            linear   PRI 20-MAR-2023
DEFINITION  UPF0602 protein C4orf47 isoform X2 [Homo sapiens].
ACCESSION   XP_047271677
VERSION     XP_047271677.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047415721.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..183
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..183
                     /product="UPF0602 protein C4orf47 isoform X2"
                     /calculated_mol_wt=21056
     Region          <53..167
                     /region_name="DUF4586"
                     /note="Domain of unknown function (DUF4586); pfam15239"
                     /db_xref="CDD:434561"
     CDS             1..183
                     /gene="C4orf47"
                     /coded_by="XM_047415721.1:1154..1705"
                     /db_xref="GeneID:441054"
                     /db_xref="HGNC:HGNC:34346"
ORIGIN      
        1 mchnlimwlr kllwnnrwss pifqrtvkts rkiqgtwkef ihkpgkernw iwkaneehhr
       61 llkgapfkln lhprdyfdan pyfseeslpp ikkeekkkti sntfkpsspg kkpggmkagt
      121 fdpypshsad pyvaklanis gkddkifhpp sgpksrpves imtlnvrral nsknyktssv
      181 psy
//
LOCUS       XP_016863962            1226 aa            linear   PRI 20-MAR-2023
DEFINITION  capping protein-inhibiting regulator of actin dynamics isoform X3
            [Homo sapiens].
ACCESSION   XP_016863962
VERSION     XP_016863962.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017008473.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_016863962.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1226
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1226
                     /product="capping protein-inhibiting regulator of actin
                     dynamics isoform X3"
                     /calculated_mol_wt=136256
     Region          38..166
                     /region_name="DUF4592"
                     /note="Domain of unknown function (DUF4592); pfam15262"
                     /db_xref="CDD:434583"
     Region          <212..>519
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          <616..1053
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <927..>1210
                     /region_name="rne"
                     /note="ribonuclease E; Reviewed; PRK10811"
                     /db_xref="CDD:236766"
     CDS             1..1226
                     /gene="CRACD"
                     /gene_synonym="CRAD; KIAA1211"
                     /coded_by="XM_017008473.2:17..3697"
                     /db_xref="GeneID:57482"
                     /db_xref="HGNC:HGNC:29219"
                     /db_xref="MIM:618327"
ORIGIN      
        1 mgeqkvsrqf kqchrttswa ksklfsrlss mflqqlgkni kfgqrspnai pmnkansgea
       61 sleedlflts pmeivtqqdi vlsdaenkss dtpsslspln lpgagsemee kvapvkpsrp
      121 krhfssagti esvnldaipl aiarldnsaa khklavkpkk qrvskkhrrl aqdpqheqgg
      181 lesrpcldqn ghpgedkptw heeepnplds eeerrrqedy wreleakckr qkaeaaekrr
      241 leeqrlqale rrlweenrrq elleeegegq eppleaerap reeqqrslea pgwedaerre
      301 reererleae eerrrlqaqa qaeerrrlee darleerrrq eeeegrcaee lkrqeeeeae
      361 gweeleqqea evqgppeale etgegrrgae eedlgeeeee gqahledwrg qlsellndfe
      421 erledqerlk pegqrehsee pgiceeqnpe aerrreqqgr sgdfqgadrp gpeekreegd
      481 tepllkqegp veaaqppver keaaaleqgr kveelrwqev derqtmprpy tfqvssggkq
      541 ilfpkvnlsp vtpakdtglt aapqepkapk aspvqhalps slsvphtail vtgaqlcgpa
      601 vnlsqikdta cksllgleek khaeapagen pprgpgdara gsgkakprqe spssasalae
      661 wasirsrilk naesdprsse rdqlrpgdes tprgrcdsrg nqrktppvna kfsimpawqk
      721 fsdggtetsk qsteaesirk rpmlgpseet apqpppagvr elgkgpekse mhrepadtte
      781 gckfakdlps flvpslpypp qkvvahteft tssdsetang iakpdpvmpg geekaspfgi
      841 klrrtnyslr fncdqqaeqk kkkrhsstgd sadagppaag sargekemeg valkhgpslp
      901 qerkqapstr rdsaepsssr svpvahpgpp passqtpape hdkaankmpl aqkpalapkp
      961 tsqtppaspl sklsrpylve llsrragrpd pepsepsked qessdrrpps ppgpeerkgq
     1021 krdeeeeate rkpaspplpa tqqekpsqtp eagrkekpml qsrhsldgsk ltekvetaqp
     1081 lwitlalqkq kgfreqqatr eerkqareak qaeklskenv svsvqpgsss vsragslhks
     1141 talpeekrpe tavsrlerre qlkkantlpt svtveisdsa ppaplvkevt krfstpdaap
     1201 vstepawlal akrkakawsd cpqiik
//
LOCUS       XP_047272044             250 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 46 isoform X1 [Homo sapiens].
ACCESSION   XP_047272044
VERSION     XP_047272044.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416088.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..250
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..250
                     /product="ubiquitin carboxyl-terminal hydrolase 46 isoform
                     X1"
                     /calculated_mol_wt=29032
     Region          <1..247
                     /region_name="Peptidase_C19G"
                     /note="A subfamily of Peptidase C19. Peptidase C19
                     contains ubiquitinyl hydrolases. They are intracellular
                     peptidases that remove ubiquitin molecules from
                     polyubiquinated peptides by cleavage of isopeptide bonds.
                     They hydrolyze bonds involving the carboxyl...; cd02663"
                     /db_xref="CDD:239128"
     CDS             1..250
                     /gene="USP46"
                     /coded_by="XM_047416088.1:419..1171"
                     /db_xref="GeneID:64854"
                     /db_xref="HGNC:HGNC:20075"
                     /db_xref="MIM:612849"
ORIGIN      
        1 mqqdahefln yllntiadil qeekkqekqn gklkngnmne paennkpelt wvheifqgtl
       61 tnetrclnce tvsskdedfl dlsvdveqnt sithclrdfs ntetlcseqk yycetccskq
      121 eaqkrmrvkk lpmilalhlk rfkymeqlhr ytklsyrvvf plelrlfnts sdavnldrmy
      181 dlvavvvhcg sgpnrghyit ivkshgfwll fdddivekid aqaieefygl tsdisknses
      241 gyilfyqsre
//
LOCUS       XP_047272091             541 aa            linear   PRI 20-MAR-2023
DEFINITION  2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1
            [Homo sapiens].
ACCESSION   XP_047272091
VERSION     XP_047272091.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416135.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..541
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..541
                     /product="2-hydroxyacylsphingosine
                     1-beta-galactosyltransferase isoform X1"
                     /calculated_mol_wt=61307
     Region          21..502
                     /region_name="Glycosyltransferase_GTB-type"
                     /note="glycosyltransferase family 1 and related proteins
                     with GTB topology; cl10013"
                     /db_xref="CDD:447877"
     Site            order(33..34,36,186,189..190,194,221,295,358,360,362..363,
                     366)
                     /site_type="active"
                     /db_xref="CDD:340817"
     Site            order(33,295,358,360,362..363)
                     /site_type="active"
                     /note="TDP-binding site [active]"
                     /db_xref="CDD:340817"
     Site            34
                     /site_type="active"
                     /note="acceptor substrate-binding pocket [active]"
                     /db_xref="CDD:340817"
     CDS             1..541
                     /gene="UGT8"
                     /gene_synonym="CGT; UGT4"
                     /coded_by="XM_047416135.1:927..2552"
                     /db_xref="GeneID:7368"
                     /db_xref="HGNC:HGNC:12555"
                     /db_xref="MIM:601291"
ORIGIN      
        1 mksytpyfil lwsavgiaka akiiivppim feshmyifkt lasalhergh htvfllsegr
       61 diapsnhysl qrypgifnst tsdaflqskm rnifsgrlta ielfdildhy tkncdlmvgn
      121 haliqglkke kfdlllvdpn dmcgfviahl lgvkyavfst glwypaevga paplayvpef
      181 nslltdrmnl lqrmkntgvy lisrlgvsfl vlpkyerimq kynllpeksm ydlvhgsslw
      241 mlctdvalef prptlpnvvy vggiltkpas plpedlqrwv nganehgfvl vsfgagvkyl
      301 sedianklag algrlpqkvi wrfsgpkpkn lgnntkliew lpqndllghs kikaflshgg
      361 lnsifetiyh gvpvvgiplf gdhydtmtrv qakgmgille wktvtekely ealvkvinnp
      421 syrqraqkls eihkdqpghp vnrtiywidy iirhngahhl raavhqisfc qyflldiafv
      481 lllgaallyf llswvtkfiy rkikslwsrn khstvnghyh ngilngkykr nghikhekkv
      541 k
//
LOCUS       XP_011533849             483 aa            linear   PRI 20-MAR-2023
DEFINITION  estrogen receptor isoform X2 [Homo sapiens].
ACCESSION   XP_011533849
VERSION     XP_011533849.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011535547.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..483
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..483
                     /product="estrogen receptor isoform X2"
                     /calculated_mol_wt=53617
     Region          42..181
                     /region_name="Oest_recep"
                     /note="Oestrogen receptor; pfam02159"
                     /db_xref="CDD:426628"
     Region          180..261
                     /region_name="NR_DBD_ER"
                     /note="DNA-binding domain of estrogen receptors (ER) is
                     composed of two C4-type zinc fingers; cd07171"
                     /db_xref="CDD:143545"
     Site            order(185,188,202,205,221,227,237,240)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143545"
     Site            order(194..197,203..204,206..208,210..211,234..235,238,
                     241)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143545"
     Site            order(220..223,227..228,233,236)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143545"
     Region          310..>461
                     /region_name="NR_LBD"
                     /note="The ligand binding domain of nuclear receptors, a
                     family of ligand-activated transcription regulators;
                     cl11397"
                     /db_xref="CDD:448242"
     Site            order(346..347,350,353..354,383..384,387..388,391,394,428)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:132726"
     Site            order(355,358,362,367,372..373,375..376,379..380)
                     /site_type="active"
                     /note="coregulator recognition site [active]"
                     /db_xref="CDD:132726"
     CDS             1..483
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /coded_by="XM_011535547.3:340..1791"
                     /db_xref="GeneID:2099"
                     /db_xref="HGNC:HGNC:3467"
                     /db_xref="MIM:133430"
ORIGIN      
        1 mtmtlhtkas gmallhqiqg neleplnrpq lkiplerplg evyldsskpa vynypegaay
       61 efnaaaaana qvygqtglpy gpgseaaafg snglggfppl nsvspsplml lhpppqlspf
      121 lqphgqqvpy ylenepsgyt vreagppafy rpnsdnrrqg grerlastnd kgsmamesak
      181 etrycavcnd yasgyhygvw scegckaffk rsiqghndym cpatnqctid knrrkscqac
      241 rlrkcyevgm mkggirkdrr ggrmlkhkrq rddgegrgev gsagdmraan lwpsplmikr
      301 skknslalsl tadqmvsall daeppilyse ydptrpfsea smmglltnla drelvhminw
      361 akrvpgfvdl tlhdqvhlle cawleilmig lvwrsmehpg kllfapnlll drnqgkcveg
      421 mveifdmlla tssrfrmmnl qgeefvclks iillnsvltt grpgdtlpcl aqwvtrpwrl
      481 ahc
//
LOCUS       XP_047274523             537 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein kinase Fyn isoform X1 [Homo sapiens].
ACCESSION   XP_047274523
VERSION     XP_047274523.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418567.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..537
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..537
                     /product="tyrosine-protein kinase Fyn isoform X1"
                     /calculated_mol_wt=60631
     Region          85..140
                     /region_name="SH3_Fyn_Yrk"
                     /note="Src homology 3 domain of Fyn and Yrk Protein
                     Tyrosine Kinases; cd12006"
                     /db_xref="CDD:212939"
     Site            order(91,93,96..97,100,116..119,132,134,136..137)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212939"
     Site            order(93,96..100,116,119,132)
                     /site_type="other"
                     /note="SAP interaction site [polypeptide binding]"
                     /db_xref="CDD:212939"
     Region          145..245
                     /region_name="SH2_Src_Fyn_isoform_a_like"
                     /note="Src homology 2 (SH2) domain found in Fyn isoform a
                     like proteins; cd10418"
                     /db_xref="CDD:198281"
     Site            order(156,176,178..181,186,202,204,237)
                     /site_type="other"
                     /note="autoinhibitory site [polypeptide binding]"
                     /db_xref="CDD:198281"
     Site            order(156,176,202,204)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198281"
     Site            order(203,231)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198281"
     Region          261..534
                     /region_name="PTKc_Fyn"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Fyn; cd05070"
                     /db_xref="CDD:270655"
     Site            order(277,279..281,285,297,299,342..345,349,390,394..395,
                     397,408,425..429,438,472)
                     /site_type="active"
                     /db_xref="CDD:270655"
     Site            order(277,280,285,297,299,342..345,349,390,392,395,397,
                     408)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270655"
     Site            order(291,293,325,328,330,343,369,373,401,521)
                     /site_type="other"
                     /note="SH3/SH2 domain interface [polypeptide binding]"
                     /db_xref="CDD:270655"
     Site            order(379,382..383,446,508..510,512,514..515,518,522,
                     525..526,530)
                     /site_type="other"
                     /note="CSK binding interface [polypeptide binding]"
                     /db_xref="CDD:270655"
     Site            order(390,394,425..429,438,472)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270655"
     Site            407..431
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270655"
     CDS             1..537
                     /gene="FYN"
                     /gene_synonym="p59-FYN; SLK; SYN"
                     /coded_by="XM_047418567.1:9594..11207"
                     /db_xref="GeneID:2534"
                     /db_xref="HGNC:HGNC:4037"
                     /db_xref="MIM:137025"
ORIGIN      
        1 mgcvqckdke atklteerdg slnqssgyry gtdptpqhyp sfgvtsipny nnfhaaggqg
       61 ltvfggvnss shtgtlrtrg gtgvtlfval ydyeartedd lsfhkgekfq ilnssegdww
      121 earslttget gyipsnyvap vdsiqaeewy fgklgrkdae rqllsfgnpr gtflireset
      181 tkgayslsir dwddmkgdhv khykirkldn ggyyittraq fetlqqlvqh yseraaglcc
      241 rlvvpchkgm prltdlsvkt kdvweipres lqlikrlgng qfgevwmgtw ngntkvaikt
      301 lkpgtmspes fleeaqimkk lkhdklvqly avvseepiyi vteymnkgsl ldflkdgegr
      361 alklpnlvdm aaqvaagmay iermnyihrd lrsanilvgn glickiadfg larliedney
      421 tarqgakfpi kwtapeaaly grftiksdvw sfgilltelv tkgrvpypgm nnrevleqve
      481 rgyrmpcpqd cpislhelmi hcwkkdpeer ptfeylqsfl edyftatepq yqpgenl
//
LOCUS       XP_054184398             191 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptobrevin homolog YKT6 isoform X1 [Homo sapiens].
ACCESSION   XP_054184398
VERSION     XP_054184398.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328423.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..191
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..191
                     /product="synaptobrevin homolog YKT6 isoform X1"
                     /calculated_mol_wt=21583
     CDS             1..191
                     /gene="YKT6"
                     /coded_by="XM_054328423.1:159..734"
                     /db_xref="GeneID:10652"
                     /db_xref="HGNC:HGNC:16959"
                     /db_xref="MIM:606209"
ORIGIN      
        1 mklyslsvly kgeakvvllk aaydvssfsf fqrssvqefm tftsqliver sskgtrasvk
       61 eqdylchvyv rndslagvvi adneypsrva ftllekvlde fskqvdridw pvgspatihy
      121 paldghlsry qnpreadpmt kvqaeldetk iilhntmesl lergeklddl vsksevlgtq
      181 skafyktkif n
//
LOCUS       XP_011514118             594 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and SOCS box protein 15 isoform X1 [Homo sapiens].
ACCESSION   XP_011514118
VERSION     XP_011514118.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011515816.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..594
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..594
                     /product="ankyrin repeat and SOCS box protein 15 isoform
                     X1"
                     /calculated_mol_wt=66308
     Region          82..>277
                     /region_name="PHA02875"
                     /note="ankyrin repeat protein; Provisional"
                     /db_xref="CDD:165206"
     Region          116..147
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          149..180
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          168..>450
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Site            order(184,188..189,192..194,196..197,201,204,213,215,217,
                     221..222,225..227,229..230,234,237,246,248,250,254..255,
                     258..260,262..263,267,270,279)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          184..213
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          215..246
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          248..279
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          282..308
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(313,315,319..320,323..325,327..328,332,335,353,355,
                     357,361..362,365..367,369..370,374,377,385,387,391..392,
                     395..397,399..400,404,407)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          313..353
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          355..385
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          387..413
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          538..593
                     /region_name="SOCS"
                     /note="SOCS (suppressors of cytokine signaling) box. The
                     SOCS box is found in the C-terminal region of CIS/SOCS
                     family proteins (in combination with a SH2 domain), ASBs
                     (ankyrin repeat-containing proteins with a SOCS box), SSBs
                     (SPRY domain-containing proteins...; cl02533"
                     /db_xref="CDD:445817"
     Site            order(539..544,550,563,569)
                     /site_type="active"
                     /note="elongin B/C interaction [active]"
                     /db_xref="CDD:239641"
     CDS             1..594
                     /gene="ASB15"
                     /coded_by="XM_011515816.3:79..1863"
                     /db_xref="GeneID:142685"
                     /db_xref="HGNC:HGNC:19767"
                     /db_xref="MIM:619757"
ORIGIN      
        1 miipkgmdtn ddpdedhlts ydiqlsiqes ieasktalcp erfvplsaqn rklveaikqg
       61 hipelqeyvk ykyamdeade kgwfplheav vqpiqqilei vldasyktlw efktcdgetp
      121 ltlavkaglv envrtllekg vwpntkndkg etplliavkk gsydmvstli khntsldqpc
      181 vkrwsamhea akqgrkdiva lllkhggnvh lrdgfgvtpl gvaaeyghcd vlehlihkgg
      241 dvlaladdga svlfeaaggg npdcisllle yggsgnvpnr aghlpihraa yeghylalky
      301 lipvtsknai rksgltpihs aadgqnaqcl elliengfdv ntlladhisq sydderktal
      361 yfgvsnndvh ctevllaaga dpnldplncl lvavrannye ivrlllshga nvncyfmhvn
      421 dtrfpsviqy alndevmlrl llnngyqvem cfdcmhgdif gnsfvwseiq eevlpgwtsc
      481 vikdnpfcef itvpwmkhlv grvtrvlidy mdyvplcakl ksalevqrew peirqilenp
      541 cslkhlcrlk irrlmglqkl cqpasveklp lppaiqryil fkeydlygqe lklt
//
LOCUS       XP_047276110            1258 aa            linear   PRI 20-MAR-2023
DEFINITION  autism susceptibility gene 2 protein isoform X3 [Homo sapiens].
ACCESSION   XP_047276110
VERSION     XP_047276110.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420154.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1258
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1258
                     /product="autism susceptibility gene 2 protein isoform X3"
                     /calculated_mol_wt=138765
     Region          <298..>483
                     /region_name="PAT1"
                     /note="Topoisomerase II-associated protein PAT1;
                     pfam09770"
                     /db_xref="CDD:401645"
     Region          644..856
                     /region_name="Auts2"
                     /note="Autism susceptibility gene 2 protein; pfam15336"
                     /db_xref="CDD:434645"
     Region          <838..>1001
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     CDS             1..1258
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
                     /coded_by="XM_047420154.1:1180..4956"
                     /db_xref="GeneID:26053"
                     /db_xref="HGNC:HGNC:14262"
                     /db_xref="MIM:607270"
ORIGIN      
        1 mdgptrghgl rkkrrsrsqr drerrsrggl gagaagggga grtralslas ssgsdkedng
       61 kppssapsrp rpprrkrres tsaeediidg famtsfvtfe alekdvalkp qervekrqtp
      121 ltkkkrealt nglsfhskks rlshphhyss drendrnlcq hlgkrkkmpk alrqlkpgqn
      181 scrdsdsesa sgeskgfhrs ssrerlsdss apsslgtgyf cdsdsdqeek asdasseklf
      241 ntvivnkdpe lgvgtlpehd sqdagpivpk isglersqek sqdcckepif epvvlkdpcp
      301 qvaqpipqpq tepqlrapsp dpdlvqrtea ppqppplstq ppqgppeaql qpapqpqvqr
      361 pprpqsptql lhqnlppvqa hpsaqslsqp lsaynsssls lnslssrsst paktqpapph
      421 ishhpsaspf plslpnhspl hsftptlqpp ahshhpnmfa pptalppppp ltsgslqvag
      481 hpagstyseq dilrqelntr flasqsadrg aslgpppylr tefhqhqhqh qhthqhthqh
      541 tftpfphaip ptaimptpap pmfdkyptkv dpfyrhslfh syppavsgip pmipptgpfg
      601 slqgafqpkt snpidvaarp gtvphtllqk dprltdpfrp mlrkpgkwca mhvhiawqiy
      661 hhqqkvkkqm qsdphkldfg lkpeflsrpp gpslfgaihh phdlarpstl fsaagaahpt
      721 gtpfgppphh snflnpaahl epfnrpstft glaavggnaf gglgnpsvtp nsmfghkdgp
      781 svqnfsnphe pwnrlhrtpp sfptpppwlk pgelersasa aahdrdrdvd krdssvskdd
      841 keresvekrh sshpspapvl pvnalghtrs steqirahln tearekdkpk ererdhsesr
      901 kdlaadehka keghlpekdg hghegraage eakqlarvps pyvrtpvves arpnstssre
      961 aeprkgepay enpkkssevk vkeerkedhd lppeapqthr aseppppnss ssvhpgplas
     1021 mpmtvgvtgi hpmnsissld rtrmmtpfmg isplpggerf pypsfhwdpi rdplrdpyre
     1081 ldihrrdplg rdfllrndpl hrlstprlye adrsfrdrep hdyshhhhhh hhplsvdprr
     1141 ehergghlde rerlhmlred yehtrlhsvh pasldghlph pslitpglps mhyprispta
     1201 gnqngllnkt pptaalsapp plistlggrp vsprrttpls aeirerppsh tlkdiear
//
LOCUS       XP_047277381             648 aa            linear   PRI 20-MAR-2023
DEFINITION  elongation factor 1-delta isoform X5 [Homo sapiens].
ACCESSION   XP_047277381
VERSION     XP_047277381.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421425.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..648
                     /product="elongation factor 1-delta isoform X5"
                     /calculated_mol_wt=71408
     Region          526..553
                     /region_name="EF-1_beta_acid"
                     /note="Eukaryotic elongation factor 1 beta central acidic
                     region; pfam10587"
                     /db_xref="CDD:431375"
     Site            order(562,566,570..572,596..597,602,605,613,615,618,621,
                     624..625,641,646..647)
                     /site_type="other"
                     /note="EF1A interaction surface [polypeptide binding]"
                     /db_xref="CDD:238181"
     Region          565..648
                     /region_name="EF1_GNE"
                     /note="EF-1 guanine nucleotide exchange domain; pfam00736"
                     /db_xref="CDD:425844"
     CDS             1..648
                     /gene="EEF1D"
                     /gene_synonym="EF-1D; EF1D; FP1047"
                     /coded_by="XM_047421425.1:3521..5467"
                     /db_xref="GeneID:1936"
                     /db_xref="HGNC:HGNC:3211"
                     /db_xref="MIM:130592"
ORIGIN      
        1 mmrsgkasct letvwedkhk yeeaerrfye heatqaaasa qqlpaegpam ngpgqddped
       61 adeaeapdgg srrdprksqd srkplqkkrk rspksglgpa dlallglsae rvwldkslfd
      121 qaessyrqkl advaaqaawp palapwglct hgnqvachhv twgiwvnkss fdqaerafve
      181 wsqalllapd gsrrqgtpnt gqqvavpdla hqpsppvngq pplgslqalv revwlekpry
      241 daaergfyea lfdghppgkv rlqeraglae garrgrrdrr grnilgnkra glrradgeap
      301 salpycyflq kdaeapwlsk paydsaecrh haaealrvaw cleaaslshr pgprsglsvs
      361 slrpnrkmat nflahekiwf dkfkyddaer rfyeqmngpv agasrqenga svilrdiara
      421 reniqkslag ssgpgassgt sgdhgelvvr iaslevenqs lrgvvqelqq aisklearln
      481 vleksspghr atapqtqhvs pmrqveppak kpatpaedde dddidlfgsd neeedkeaaq
      541 lreerlrqya ekkakkpalv akssilldvk pwddetdmaq leacvrsiql dglvwgaskl
      601 vpvgygirkl qiqcvveddk vgtdlleeei tkfeehvqsv diaafnki
//
LOCUS       XP_005273739             634 aa            linear   PRI 20-MAR-2023
DEFINITION  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X1
            [Homo sapiens].
ACCESSION   XP_005273739
VERSION     XP_005273739.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005273682.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..634
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..634
                     /product="set1/Ash2 histone methyltransferase complex
                     subunit ASH2 isoform X1"
                     /calculated_mol_wt=69083
     Region          101..150
                     /region_name="PHD_ash2p_like"
                     /note="PHD finger found in Schizosaccharomyces pombe Set1
                     complex component ash2 (spAsh2p) and similar proteins;
                     cd15583"
                     /db_xref="CDD:277058"
     Site            order(101,113..117,121,145)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277058"
     Region          398..589
                     /region_name="SPRY_Ash2"
                     /note="SPRY domain in Ash2; cd12872"
                     /db_xref="CDD:293932"
     CDS             1..634
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /coded_by="XM_005273682.2:23..1927"
                     /db_xref="GeneID:9070"
                     /db_xref="HGNC:HGNC:744"
                     /db_xref="MIM:604782"
ORIGIN      
        1 maaagagpgq eagagpgpga vanatgaeeg emkpvaagaa appgegisaa ptvepssgea
       61 eggeanlvdv sggletessn gkdtlegagd tsevmdtqag svdeengrql gevelqcgic
      121 tkwftadtfg idtssclpfm tnysfhcnvc hhsgntyflr kqanlkemcl salanltwqs
      181 rtqdehpktm fskdkdiipf idkywecmtt rqrpgkmtwp nnivktmske rdvflvkehp
      241 dpgskdpeed ypkfglldqd lsnigpaydn qkqssavsts gnlnggatfg ggiaagssgk
      301 grgakrkqqd ggttgttkka rsdplfsaqr lpphgypleh pfnkdgyryi laepdphapd
      361 pekleldcwa gkpipgdlyr aclyervlla lhdrapqlki sddrltvvge kgysmvrash
      421 gvrkgawyfe itvdemppdt aarlgwsqpl gnlqaplgyd kfsyswrskk gtkfhqsigk
      481 hyssgygqgd vlgfyinlpe dtetakslpd tykdkalikf ksylyfeekd fvdkaekslk
      541 qtphseiify kngvnqgvay kdifegvyfp aislyksctv sinfgpcfky ppkdltyrpm
      601 sdmgwgavve htladvlyhv etevdgrrsp pwep
//
LOCUS       XP_011517085             351 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphoglucomutase-like protein 5 isoform X2 [Homo sapiens].
ACCESSION   XP_011517085
VERSION     XP_011517085.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011518783.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..351
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..351
                     /product="phosphoglucomutase-like protein 5 isoform X2"
                     /calculated_mol_wt=37634
     Region          10..>347
                     /region_name="phosphohexomutase"
                     /note="The alpha-D-phosphohexomutase superfamily includes
                     several related enzymes that catalyze a reversible
                     intramolecular phosphoryl transfer on their sugar
                     substrates. Members of this family include the
                     phosphoglucomutases (PGM1 and PGM2),
                     phosphoglucosamine...; cl38939"
                     /db_xref="CDD:453899"
     Site            order(122,293,295,297)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:100086"
     CDS             1..351
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /coded_by="XM_011518783.4:518..1573"
                     /db_xref="GeneID:5239"
                     /db_xref="HGNC:HGNC:8908"
                     /db_xref="MIM:600981"
ORIGIN      
        1 megspipvlt vptapyedqr pagggglrrp tglfegqrny lpnfiqsvls sidlrdrqgc
       61 tmvvgsdgry fsrtaieivv qmaaangigr liigqngils tpavsciirk ikaaggiilt
      121 ashcpggpgg efgvkfnvan ggpapdvvsd kiyqisktie eyaicpdlri dlsrlgrqef
      181 dlenkfkpfr veivdpvdiy lnllrtifdf haikglltgp sqlkiridam hgvmgpyvrk
      241 vlcdelgapa nsaincvple dfggqhpdpn ltyattllea mkggeygfga afdadgdrym
      301 ilgqngffvs psdslaiiaa nlscipyfrq mgvrgfgrsm ptsmaldsil d
//
LOCUS       XP_006717226             199 aa            linear   PRI 20-MAR-2023
DEFINITION  nicotinamide riboside kinase 1 isoform X2 [Homo sapiens].
ACCESSION   XP_006717226
VERSION     XP_006717226.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006717163.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..199
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..199
                     /product="nicotinamide riboside kinase 1 isoform X2"
                     /calculated_mol_wt=23062
     Region          5..160
                     /region_name="NRK1"
                     /note="Nicotinamide riboside kinase (NRK) is an enzyme
                     involved in the metabolism of nicotinamide adenine
                     dinucleotide (NAD+). This enzyme catalyzes the
                     phosphorylation of nicotinamide riboside (NR) to form
                     nicotinamide mononucleotide (NMN). It defines the NR...;
                     cd02024"
                     /db_xref="CDD:238982"
     Site            order(10,15..18)
                     /site_type="active"
                     /db_xref="CDD:238982"
     CDS             1..199
                     /gene="NMRK1"
                     /gene_synonym="bA235O14.2; C9orf95; NRK1"
                     /coded_by="XM_006717163.3:402..1001"
                     /db_xref="GeneID:54981"
                     /db_xref="HGNC:HGNC:26057"
                     /db_xref="MIM:608704"
ORIGIN      
        1 mktfiigisg vtnsgkttla knlqkhlpnc svisqddffk peseietdkn gflqydvlea
       61 lnmekmmsai scwmesarhs vvstdqesae eipiliiegf llfnykpldt iwnrsyflti
      121 pyeeckrrrs trvyqppdsp gyfdghvwpm ylkyrqemqd itwevvyldg tkseedlflq
      181 vyedliqela kqkclqvta
//
LOCUS       XP_006716890            1893 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase delta isoform X38 [Homo
            sapiens].
ACCESSION   XP_006716890
VERSION     XP_006716890.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006716827.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1893
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1893
                     /product="receptor-type tyrosine-protein phosphatase delta
                     isoform X38"
                     /calculated_mol_wt=212329
     Region          24..115
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          41..45
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          54..58
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          77..84
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          95..100
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          108..111
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          127..217
                     /region_name="IgI_2_RPTP_IIa_LAR_like"
                     /note="Second immunoglobulin (Ig)-like domain of the
                     receptor protein tyrosine phosphatase (RPTP)-F; member of
                     the I-set of IgSF domains; cd05738"
                     /db_xref="CDD:409400"
     Region          127..129
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409400"
     Region          134..138
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409400"
     Region          141..150
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409400"
     Region          155..161
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409400"
     Region          163..165
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409400"
     Region          174..178
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409400"
     Region          181..186
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409400"
     Region          195..202
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409400"
     Region          205..216
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409400"
     Region          226..307
                     /region_name="IgI_3_RPTP_IIa_LAR_like"
                     /note="Third immunoglobulin (Ig)-like domain of the
                     receptor protein tyrosine phosphatase (RPTP)-F (also known
                     as LAR), type IIa; member of the I-set of IgSF domains;
                     cd05739"
                     /db_xref="CDD:409401"
     Region          226..228
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409401"
     Region          232..236
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409401"
     Region          239..247
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409401"
     Region          252..258
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409401"
     Region          260..262
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409401"
     Region          265..269
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409401"
     Region          274..279
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409401"
     Region          286..293
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409401"
     Region          297..306
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409401"
     Region          310..399
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(310,372,387)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(388..389,391..392)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          406..498
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(487..488,490..491)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          503..591
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(503,564,579)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(580..581,583..584)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          599..693
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(682..683,685..686)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          700..797
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(786..787,789..790)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          802..897
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(802,865,880)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(881..882,884,890)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          900..991
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(980..981,983..984)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1000..>1061
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Region          1315..1598
                     /region_name="R-PTPc-D-1"
                     /note="catalytic domain of receptor-type tyrosine-protein
                     phosphatase D, repeat 1; cd14624"
                     /db_xref="CDD:350472"
     Region          1599..1890
                     /region_name="R-PTP-D-2"
                     /note="PTP-like domain of receptor-type tyrosine-protein
                     phosphatase D, repeat 2; cd14628"
                     /db_xref="CDD:350476"
     CDS             1..1893
                     /gene="PTPRD"
                     /gene_synonym="HPTP; HPTPD; HPTPDELTA; PTPD; R-PTP-delta;
                     RPTPDELTA"
                     /coded_by="XM_006716827.5:708..6389"
                     /db_xref="GeneID:5789"
                     /db_xref="HGNC:HGNC:9668"
                     /db_xref="MIM:601598"
ORIGIN      
        1 mvhvarllll lltfflrtda etpprftrtp vdqtgvsggv asficqatgd prpkivwnkk
       61 gkkvsnqrfe viefddgsgs vlriqplrtp rdeaiyecva snnvgeisvs trltvlredq
      121 iprgfptidm gpqlkvvert rtatmlcaas gnpdpeitwf kdflpvdtsn nngrikqlrs
      181 galqieqsee sdqgkyecva tnsagtrysa panlyvrvrr vpprfsippt nheimpggsv
      241 nitcvavgsp mpyvkwmlga edltpeddmp igrnvlelnd vrqsanytcv amstlgviea
      301 iaqitvkalp kppgtpvvte statsitltw dsgnpepvsy yiiqhkpkns eelykeidgv
      361 attrysvagl spysdyefrv vavnnigrgp psepvltqts eqapssaprd vqarmlsstt
      421 ilvqwkepee pngqiqgyrv yytmdptqhv nnwmkhnvad sqittignlv pqktysvkvl
      481 aftsigdgpl ssdiqvitqt gvpgqplnfk aepesetsil lswtpprsdt ianyelvykd
      541 gehgeeqrit iepgtsyrlq glkpnslyyf rlaarspqgl gastaeisar tmqskpsapp
      601 qdisctspss tsilvswqpp pvekqngiit eysikytavd geddkpheil gipsdttkyl
      661 leqlekwtey ritvtahtdv gpgpeslsvl irtnedvpsg pprkveveav nstsvkvswr
      721 spvpnkqhgq irgyqvhyvr mengepkgqp mlkdvmlada qdmiisglqp etsysltvta
      781 yttkgdgars kpklvsttga vpgkprlvin htqmntaliq whppvdtfgp lqgyrlkfgr
      841 kdmeplttle fsekedhfta tdihkgasyv frlsarnkvg fgeemvkeis ipeevptgfp
      901 qnlhsegtts tsvqlswqpp vlaerngiit kytllyrdin ipllpmeqli vpadttmtlt
      961 glkpdttydv kvrahtskgp gpyspsvqfr tlpvdqvfak nfhvkavmkt svllsweipe
     1021 nynsampfki lyddgkmvee vdgratqkli vnlkpeksys fvltnrgnsa gglqhrvtak
     1081 tapdvlrtkp afigktnldg mitvqlpevp anenikgyyi iivplkksrg kfikpwespd
     1141 emeldellke isrkrrsiry grevelkpyi aahfdvlpte ftlgddkhyg gftnkqlqsg
     1201 qeyvffvlav mehaesmyat spysdpvvsm dldpqpitde eegliwvvgp vlavvfiici
     1261 viaillyksk pdrkraesds rkssipnnke ipshhptdpv elrrlnfqtp gmashppipi
     1321 leladhierl kandnlkfsq eyesidpgqq ftwehsnlev nkpknryanv iaydhsrvll
     1381 saiegipgsd yvnanyidgy rkqnayiatq gslpetfgdf wrmiweqrsa tvvmmtklee
     1441 rsrvkcdqyw psrgtethgl vqvtlldtve latycvrtfa lykngssekr evrqfqftaw
     1501 pdhgvpehpt pflaflrrvk tcnppdagpm vvhcsagvgr tgcfividam lerikhektv
     1561 diyghvtlmr aqrnymvqte dqyifihdal leavtcgnte vparnlyayi qkltqietge
     1621 nvtgmelefk rlasskahts rfisanlpcn kfknrlvnim pyestrvclq pirgvegsdy
     1681 inasfidgyr qqkayiatqg plaettedfw rmlwehnsti vvmltklrem grekchqywp
     1741 aersaryqyf vvdpmaeynm pqyilrefkv tdardgqsrt vrqfqftdwp eqgvpksgeg
     1801 fidfigqvhk tkeqfgqdgp isvhcsagvg rtgvfitlsi vlermryegv vdifqtvkml
     1861 rtqrpamvqt edqyqfsyra aleylgsfdh yat
//
LOCUS       XP_005262273             598 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger matrin-type protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_005262273
VERSION     XP_005262273.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005262216.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Feb 3, 2014 this sequence version replaced XP_005262273.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..598
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..598
                     /product="zinc finger matrin-type protein 1 isoform X4"
                     /calculated_mol_wt=70398
     Region          55..89
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     CDS             1..598
                     /gene="ZMAT1"
                     /coded_by="XM_005262216.5:190..1986"
                     /db_xref="GeneID:84460"
                     /db_xref="HGNC:HGNC:29377"
                     /db_xref="MIM:301007"
ORIGIN      
        1 mlqfesqris hyegekhaqn vsfyfqmhge qnevpgkkmk mhvenfqvhr yegvdknkfc
       61 dlcnmmfssp liaqshyvgk vhakklkqlm eehdqaspsg fqpemagvpl ttsaestflk
      121 plpvkpptaf smrtyvchic siaftsldmf rshmqgsehq ikesivinlv knsrktqdsy
      181 qnecadyinv qkargleakt cfrkmeessl etrryrevvd srprhrmfeq rlpfetfrty
      241 aapynisqam ekqlphskkt ydsfqdeled yikvqkargl dpktcfrkmr ensvdthgyr
      301 emvdsgprsr mceqrfshea sqtyqrpyhi spvesqlpqw lpthskrtyd sfqdeledyi
      361 kvqkarglep ktcfrkigds svethrnrem vdvrprhrml eqklpcetfq tysgpysisq
      421 vvenqlphcl pahdskqrld sisycqltrd cfpekpvpls lnqqennsgs ysvesevykh
      481 lssenntadh qaghkrkhqk rkrhleegke rpekeqskhk rkksyedtdl dkdksirqrk
      541 reedrvkvss gklkhrkkkk shdvpsekee rkhrkekkks veerteeeml wdesilgf
//
LOCUS       XP_054184683            2245 aa            linear   PRI 20-MAR-2023
DEFINITION  putative maltase-glucoamylase-like protein FLJ16351 isoform X1
            [Homo sapiens].
ACCESSION   XP_054184683
VERSION     XP_054184683.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328708.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187562.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2245
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     Protein         1..2245
                     /product="putative maltase-glucoamylase-like protein
                     FLJ16351 isoform X1"
                     /calculated_mol_wt=246941
     CDS             1..2245
                     /gene="MGAM2"
                     /coded_by="XM_054328708.1:85..6822"
                     /db_xref="GeneID:93432"
                     /db_xref="HGNC:HGNC:28101"
ORIGIN      
        1 mpwvgsifls svevtlqpap aityrtiggi ldfyvflgnt peqvvqeyle lvgrpffppy
       61 wslgfqlsrr dygginklke vvsrnrlaei pydvqysdid ymdgkkdftv devaysglpd
      121 fvkelhdngq kyliimnpgi sknsnyepyn ngslkrvwil gsngfavgeg ypgptvfpdy
      181 tnpvctewwt dqvakfhdhl efdgvwiemn evssllqasn nqcesnnlnf ppflprvldh
      241 llfartlcmd tefhgglhyd ihslyghsma rttnlaleti fmnnrsfils rstfagsgkf
      301 aahwlgdnaa twddlrwsip tilefnlfgi pmvganicgy nnnvteelcr rwmqlgafyp
      361 lprnhngpgf rdqdpaafgv dslllkssrh ylnirytllp ylytlfyhah trgetvarpl
      421 vhefyqdsat wdvheqflwg pgllitpvly egvdevkayi pdatwydyet gvaiswrkql
      481 vnmllpgdki glhlrggyif ptqkpnttte asrrnslgli ialdykreak gelywddgvs
      541 kdavtekkyi lydfsvtsnh lqakiinnny mdtdnlmftd itilgmdkqp anfivllnnv
      601 atsspsvvyn astkvvtitd lqglvlgqef sirwnlpvsd lekfncypdd ptaseescrq
      661 rgclwedtst pgvptcyydt ipnyvasdiq ylntsitadl slpmapesaa aaasdslsak
      721 isflhlkviy htatmlqvki ydptnkryev pvplntppqp vgdpenrlyd vriqnnpfgi
      781 qiqrknsstv iwdsqlpgfi fndmflsist rlpsqyiygf getehttfrr nmnwntwgmf
      841 ahdeppaykk nsygvhpyym aleedgsahg vlllnsnamd vtlqptpalt yrttggildf
      901 yivlgptpel vtqqytelig rpamipywal gfhlsrygyq ndaeisslyd amvaaqipyd
      961 vqhvdidymn rkldftlsan fqnlsllieq mkkngmrfil ildpaisgne tqylpfirgq
     1021 ennvfikwpd tndivwgkvw pdlpnvivdg sldhetqvkl yrayvafpdf frnstaawwk
     1081 keieelyanp repekslkfd glwidmneps nfvdgsvrgc snemlnnppy mpylesrdkg
     1141 lssktlcmes qqilpdsspv ehynvhnlyg wsqtrptyea vqevtgqrgv iitrstfpss
     1201 grwgghrlgn ntaawdqlgk siigmmefsl fgipytgadi cgffgdaeye mcvrwmqlga
     1261 fypfsrnhnn igtrrqdpva wnstfemlsr kvletrytll pylytlmhka hvegstvvrp
     1321 llheftddrt twdidrqfml gpailispvl etstfeisay fprarwydys tgtsststgq
     1381 rkilkapldh inlhvrggyi lpwqepamnt hssrqnfmgl ivalddngta egqvfwddgq
     1441 sidtyengny flanfiaaqn ilqiqtihnk ylsdsnplkv gyiriwgvnt yvtqvsftyd
     1501 nrqfmetnfk sepynqilti qltdktinle kltevtwidg gpvlptptkt stipmsshps
     1561 psttnatsse titssasant ttgttdtvpi tttsfpstts vttnttvpdt tspfptsttn
     1621 astnatvpit ttpfptstig vttnatvpnt tapfptnast astnatvpit ttcfatstig
     1681 vttnatvpdt tapfptnttt astnatipit ttpfatstis vttsttvpdt tapfptstts
     1741 astnatpvpi tttlfatsti gvttgttvpd ttapfptstt ststsatvpi tttpsptnta
     1801 dantsntvpn ttmpsptsst tvstiatvpi svtpsltsta datisttvli attssltgtt
     1861 dvststtinn istpvqtntt naststnvan itatshtstd dtvpnntvpv taipslantg
     1921 vdttsnsfsi mttsfsestn amnttvimat tsptstdvas tnndasmtnf llatmsagni
     1981 tsnsisittt sfgnsvpfvt tpspstdatt tsnntnpgmt tyyqtsptip thtltsipss
     2041 itsilsmfpt sntfttdkit nfttptnant iifntldtks tmvidatvtt tstkdntmsp
     2101 dttvtsidkf tthitqfatp hsattttlal shtslaptnl snlgtmditd adnsssvtgn
     2161 tthisvsnlt tasvtitatg ldsqtphmvi nsvatylpit atsattdttn itkyalnttt
     2221 pdstvhtsat aptyianain atqvp
//
LOCUS       XP_054184801            1345 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 10 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054184801
VERSION     XP_054184801.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328826.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187576.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1345
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.3-23.2"
     Protein         1..1345
                     /product="rho guanine nucleotide exchange factor 10
                     isoform X4"
                     /calculated_mol_wt=148810
     CDS             1..1345
                     /gene="ARHGEF10"
                     /gene_synonym="GEF10; SNCV"
                     /coded_by="XM_054328826.1:197..4234"
                     /db_xref="GeneID:9639"
                     /db_xref="HGNC:HGNC:14103"
                     /db_xref="MIM:608136"
ORIGIN      
        1 mdqreplppa paenemkydt nnneeeegeq fdfdsgdeip eadrqapsap etggagasea
       61 paptggedga gaettpvaep tklvlpmkvn pysviditpf qedqpptpvp saeeenvglh
      121 vpcgylvpvp cgyavpsnlp lllpaysspv iicatsldee aetpevtedr qpnslsseep
      181 ptsedqvgre dsalarwaad pantawmenp eeaiyddvpr ensdsepdem iyddvengde
      241 ggnssleygw sssefesyee qsdseckngi prsflrsnhk kqlshdltrl kehyekkmrd
      301 lmastvgvve iqqlrqkhel kmqklvkaak dgtkdglert raavkrgrsf irtksliaqd
      361 hrssleeeqn lfidvdckhp eailtpmpeg lsqqqvvrry ilgsvvdsek nyvdalkril
      421 eqyekplsem epkvlserkl ktvfyrvkei lqchslfqia lasrvsewds vemigdvfva
      481 sfsksmvlda yseyvnnfst avavlkktca tkpafleflk qeqeaspdrt tlyslmmkpi
      541 qrfpqfilll qdmlkntskg hpdrlplqma lteletlaek lnerkrdadq rcevkqiaka
      601 inerylnkll ssgsrylirs ddmietvynd rgeivktker rvfmlndvlm catvssrpsh
      661 dsrvmssqry llkwsvplgh vdaieygssa gtgehsrhla vhppeslavv anakpnkvym
      721 gpgqlyqdlq nllhdlnvig qitqlignlk gnyqnlnqsv ahdwtsglqr lilkkedeir
      781 aadccriqlq lpgkqdksgr ptfftavfnt ftpaikeswv nslqmaklal eeenhmgwfc
      841 veddgnhikk ekhpllvghm pvmvakqqef kiecaaynpe pylnnesqpd sfstahgflw
      901 igscthqmgq iaivsfqnst pkviecfnve srilcmlyvp veekrrepga ppdpetpavr
      961 asdvpticvg teegsisiyk ssqgskkvrl qhfftpekst vmslactsqs lyaglvngav
     1021 asyarapdgs wdsepqkvik lgvlpvrsll mmedtlwaas ggqvfiisve thavegqlea
     1081 hqeegmvish mavsgvgiwi aftsgstlrl fhtetlkhlq diniatpvhn mlpghqrlsv
     1141 tsllvchgll mvgtslgvlv alpvprlqgi pkvtgrgmvs yhahnspvkf ivlatalhek
     1201 dkdksrdsla pgpepqdedq kdalpsggag sslsqgdpda aiwlgdslgs mtqksdlsss
     1261 sgslslshgs sslehrseds tiydllkdpv slrskarrak kakassalvv cggqghrrvh
     1321 rkarqphqee laptvmvwqi pllni
//
LOCUS       XP_054185544             669 aa            linear   PRI 20-MAR-2023
DEFINITION  golgin A8 family member F isoform X9 [Homo sapiens].
ACCESSION   XP_054185544
VERSION     XP_054185544.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329569.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003315943.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..669
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.1"
     Protein         1..669
                     /product="golgin A8 family member F isoform X9"
                     /calculated_mol_wt=75058
     CDS             1..669
                     /gene="GOLGA8F"
                     /coded_by="XM_054329569.1:89..2098"
                     /db_xref="GeneID:100132565"
                     /db_xref="HGNC:HGNC:32378"
ORIGIN      
        1 mwpqarlpph pamaeetrqs klaaakrklk eywqrnspgv pagakrnrkt ngsihetats
       61 ggchspgdsa tgihgespts satlkdlesp cqelavvpds rsvkvsqlkn tikslkqqnk
      121 qvehqleeek kannekqkae relevqiqrl niqkgklntd lyhtkrslry feeeskdlav
      181 rlqhslqrkg eleralsavt atqkkkaerq fssrskarme wkleqsmreq allkaqltql
      241 keslkevqle rdeyaehlkg erarwqqrmr kmsqevcslk kekkhdkyrv eklerslskl
      301 khqmaeplpp eppavpseve lqhlrkeler vagelqaqve ynqrisllne gqkerlreqe
      361 erlqeqqerl peqeerlqql aepqnsfkel nnenksvlql eqqvkelqek lgkerleaas
      421 qqnqqltaql slmalpgegd ggghldsege eaprpipsip qdlesreamv affksagasa
      481 qekqaqlqeq sgfmdhleek adlselveke elgffqyyre rchqkvyhpi tkpggsakda
      541 apggghhqag pgqggdegea agaagdgvaa ggdykghskf lvtaqnpahe pspgapapqe
      601 lgaahkhgdl cevsltdsve pvqgearegs phdnptaqpi vqdhqehpgl gsnccvpffc
      661 wawlprrrr
//
LOCUS       XP_054185842             539 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 26 isoform X1 [Homo sapiens].
ACCESSION   XP_054185842
VERSION     XP_054185842.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329867.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_113891.3) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..539
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..539
                     /product="tripartite motif-containing protein 26 isoform
                     X1"
                     /calculated_mol_wt=62035
     CDS             1..539
                     /gene="TRIM26"
                     /gene_synonym="AFP; RNF95; ZNF173"
                     /coded_by="XM_054329867.1:242..1861"
                     /db_xref="GeneID:7726"
                     /db_xref="HGNC:HGNC:12962"
                     /db_xref="MIM:600830"
ORIGIN      
        1 matsaplrsl eeevtcsicl dylrdpvtid cghvfcrsct tdvrpisgsr pvcplckkpf
       61 kkenirpvwq laslvenier lkvdkgrqpg evtreqqdak lcerhreklh yyceddgkll
      121 cvmcresreh rphtavlmek aaqphrekil nhlstlrrdr dkiqgfqakg eadilaalkk
      181 lqdqrqyiva efeqghqflr ereehlleql akleqelteg rekfksrgvg elarlalvis
      241 elegkaqqpa aelmqdtrdf lnryprkkfw vgkpiarvvk kktgefsdkl lslqrglref
      301 qgkllrdley ktvsvtldpq sasgylqlse dwkcvtytsl yksaylhpqq fdcepgvlgs
      361 kgftwgkvyw eveveregws edeeegdeee egeeeeeeee agygdgyddw etdedeeslg
      421 deeeeeeeee eevlescmvg vardsvkrkg dlslrpedgv walrlsssgi wantspeael
      481 fpalrprrvg ialdyeggtv tftnaesqel iytftatftr rlvpflwlkw pgtrlllrp
//
LOCUS       XP_054186598             200 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor 19 isoform X3 [Homo sapiens].
ACCESSION   XP_054186598
VERSION     XP_054186598.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330623.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167246.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..200
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..200
                     /product="transcription factor 19 isoform X3"
                     /calculated_mol_wt=21819
     CDS             1..200
                     /gene="TCF19"
                     /gene_synonym="SC1; TCF-19"
                     /coded_by="XM_054330623.1:708..1310"
                     /db_xref="GeneID:6941"
                     /db_xref="HGNC:HGNC:11629"
                     /db_xref="MIM:600912"
ORIGIN      
        1 mlpcfqllri gggrggdlyt fhppagagct yrlghradlc dvalrpqqep glisgihael
       61 haeprgddwr vsledhssqg tlvnnvrlpr ghrlelsdgd lltfgpegpp gtspsefyfm
      121 fqqaasassg pspspsplvg vdqraclfpp hlgkwgprll lhpnaiggnl ftecwrnwmm
      181 rvsllrtrhr slwspgrnsv
//
LOCUS       XP_054189333             705 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 185 isoform X12 [Homo sapiens].
ACCESSION   XP_054189333
VERSION     XP_054189333.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333358.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791818) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..705
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..705
                     /product="zinc finger protein 185 isoform X12"
                     /calculated_mol_wt=74806
     CDS             1..705
                     /gene="ZNF185"
                     /gene_synonym="SCELL"
                     /coded_by="XM_054333358.1:218..2335"
                     /db_xref="GeneID:7739"
                     /db_xref="HGNC:HGNC:12976"
                     /db_xref="MIM:300381"
ORIGIN      
        1 msisalggrt kgkplppgee ernnvlkqmk vrttlkgdks witkqdeseg rtielpsgrs
       61 ratsfssage vpkprppstr aptgyiirgv ftkpidsssq pqqqfpkang tpksaaslvr
      121 tanagpprps ssgykmtted ykklapynir rsstsgdtee eeeeevvpfs sdeqkrrsea
      181 asgvlrrtap rehsyvlsaa kkstgsptqe tqapfiakrv evveedgpse ksqdppalar
      241 stpgsnsadg grtkasraiw ieclpsmpsp agsqelrssp gnkdkeapcs relqrdlage
      301 eafrapntda arssaqlsdg nvgsgatgsr peglaavdig sergsssats vsavpadrks
      361 nstaaqedak adpkgalady egkdvatrvg eawqerpgap rggqgdpavp aqqpadpstp
      421 erqsspsgse qlvrrescgs rrvpqpdssp kkipplpcgg pgqgsirrdk agghigdcll
      481 tpgasvltdf egkdvatkvg eawqdrpgap rggqgdpavp tqqpadpstp eqqnspsgse
      541 qfvrrescts rvrspsscmv tvtvtatseq phiyipapas eldsssttkg ilfvkeyvna
      601 sevssgkpvs arysnvssie dsfamekkpp cgstpysert tggictycnr eirdcpkitl
      661 ehlgicchey cfkcgicskp mgdlldqifi hrdtihcgkc yeklf
//
LOCUS       XP_054190912             104 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein light chain Tctex-type 5 isoform X2 [Homo sapiens].
ACCESSION   XP_054190912
VERSION     XP_054190912.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334937.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..104
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..104
                     /product="dynein light chain Tctex-type 5 isoform X2"
                     /calculated_mol_wt=12090
     CDS             1..104
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
                     /coded_by="XM_054334937.1:130..444"
                     /db_xref="GeneID:200132"
                     /db_xref="HGNC:HGNC:26882"
                     /db_xref="MIM:619994"
ORIGIN      
        1 mmmsdnakgr aahswkkrgs isslsnhefw rkeihgrikd smstvsymee psqrddisrl
       61 tvqmentyql gkkksrerrk alpftsvyse ssfrslfqks eteh
//
LOCUS       XP_054194072            4974 aa            linear   PRI 20-MAR-2023
DEFINITION  ryanodine receptor 2 isoform X6 [Homo sapiens].
ACCESSION   XP_054194072
VERSION     XP_054194072.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338097.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4974
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..4974
                     /product="ryanodine receptor 2 isoform X6"
                     /calculated_mol_wt=565212
     CDS             1..4974
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /coded_by="XM_054338097.1:339..15263"
                     /db_xref="GeneID:6262"
                     /db_xref="HGNC:HGNC:10484"
                     /db_xref="MIM:180902"
ORIGIN      
        1 madggegede iqflrtddev vlqctatihk eqqklclaae gfgnrlcfle stsnsknvpp
       61 dlsictfvle qslsvralqe mlantvekse gqvdvekwkf mmktaqgggh rtllyghail
      121 lrhsysgmyl cclstsrsst dklafdvglq edttgeacww tihpaskqrs egekvrvgdd
      181 lilvsvsser ylhlsygngs lhvdaafqqt lwsvapissg seaaqgylig gdvlrllhgh
      241 mdecltvpsg ehgeeqrrtv hyeggavsvh arslwrletl rvawsgshir wgqpfrlrhv
      301 ttgkylslme dknlllmdke kadvkstaft frsskekldv gvrkevdgmg tseikygdsv
      361 cyiqhvdtgl wltyqsvdvk svrmgsiqrk aimhheghmd dgislsrsqh eesrtarvir
      421 stvflfnrfi rgldalskka kastvdlpie svslslqdli gyfhppdehl ehedkqnrlr
      481 alknrqnlfq eegminlvle cidrlhvyss aahfadvagr eageswksil nslyellaal
      541 irgnrkncaq fsgsldwlis rlerleassg ilevlhcvlv espealniik eghiksiisl
      601 ldkhgrnhkv ldvlcslcvc hgvavrsnqh licdnllpgr dlllqtrlvn hvssmrpnif
      661 lgvsegsaqy kkwyyelmvd htepfvtaea thlrvgwast egyspypggg eewggngvgd
      721 dlfsygfdgl hlwsgciart vsspnqhllr tddvisccld lsapsisfri ngqpvqgmfe
      781 nfnidglffp vvsfsagikv rfllggrhge fkflpppgya pcyeavlpke klkvehsrey
      841 kqertytrdl lgptvsltqa aftpipvdts qivlpphler ireklaenih elwvmnkiel
      901 gwqygpvrdd nkrqhpclve fsklpeqern ynlqmsletl ktllalgchv gisdehaedk
      961 vkkmklpkny qltsgykpap mdlsfikltp sqeamvdkla enahnvward rirqgwtygi
     1021 qqdvknrrnp rlvpytlldd rtkksnkdsl reavrtllgy gynleapdqd haraevcsgt
     1081 gerfrifrae ktyavkagrw yfefetvtag dmrvgwsrpg cqpdqelgsd erafafdgfk
     1141 aqrwhqgneh ygrswqagdv vgcmvdmneh tmmftlngei llddsgsela fkdfdvgdgf
     1201 ipvcslgvaq vgrmnfgkdv stlkyfticg lqegyepfav ntnrditmwl skrlpqflqv
     1261 psnhehievt ridgtidssp clkvtqksfg sqnsntdimf yrlsmpieca evfsktvagg
     1321 lpgaglfgpk ndledydads dfevlmktah ghlvpdrvdk dkeatkpefn nhkdyaqekp
     1381 srlkqrfllr rtkpdystsh sarltedvla ddrddydflm qtstyyysvr ifpgqepanv
     1441 wvgwitsdfh qydtgfdldr vrtvtvtlgd ekgkvhesik rsncymvcag esmspgqgrn
     1501 nngleigcvv daasglltfi angkelstyy qvepstklfp avfaqatspn vfqfelgrik
     1561 nvmplsaglf ksehknpvpq cpprlhvqfl shvlwsrmpn qflkvdvsri serqgwlvqc
     1621 ldplqfmslh ipeenrsvdi lelteqeell kfhyhtlrly savcalgnhr vahalcshvd
     1681 epqllyaien kympgllrag yydllidihl ssyatarlmm nneyivpmte etksitlfpd
     1741 enkkhglpgi glstslrprm qfsspsfvsi snecyqyspe fpldilkskt iqmlteavke
     1801 gslhardpvg gtteflfvpl iklfytllim gifhnedlkh ilqliepsvf keaatpeees
     1861 dtlekelsvd daklqgagee eakggkrpke gllqmklpep vklqmclllq ylcdcqvrhr
     1921 ieaivafsdd fvaklqdnqr frynevmqal nmsaaltark tkefrsppqe qinmllnfkd
     1981 dksecpcpee irdqlldfhe dlmthcgiel dedgsldgns dltirgrlls lvekvtylkk
     2041 kqaekpvesd skksstlqql isetmvrwaq esviedpelv ramfvllhrq ydgigglvra
     2101 lpktytingv svedtinlla slgqirslls vrmgkeeekl mirglgdimn nkvfyqhpnl
     2161 mralgmhetv mevmvnvlgg geskeitfpk mvanccrflc yfcrisrqnq kamfdhlsyl
     2221 lenssvglas pamrgstpld vaaasvmdnn elalalrepd lekvvrylag cglqscqmlv
     2281 skgypdigwn pvegeryldf lrfavfcnge sveenanvvv rllirrpecf gpalrgeggn
     2341 gllaameeai kiaedpsrdg pspnsgsskt ldteeeeddt ihmgnaimtf ysalidllgr
     2401 capemhliha gkgeairirs ilrsliplgd lvgvisiafq mptiakdgnv vepdmsagfc
     2461 pdhkaamvlf ldrvygievq dfllhllevg flpdlraaas ldtaalsatd malalnrylc
     2521 tavlplltrc aplfagtehh aslidsllht vyrlskgcsl tkaqrdsiev cllsicgqlr
     2581 psmmqhllrr lvfdvpllne hakmplkllt nhyercwkyy clpggwgnfg aaseeelhls
     2641 rklfwgifda lsqkkyeqel fklalpclsa vagalppdym esnyvsmmek qssmdsegnf
     2701 npqpvdtsni tipekleyfi nkyaehshdk wsmdklangw iygeiysdss kvqplmkpyk
     2761 llsekekeiy rwpikeslkt mlawgwrier tregdsmaly nrtrrisqts qvsvdaahgy
     2821 spraidmsnv tlsrdlhama emmaenyhni wakkkkmele skgggnhpll vpydtltake
     2881 kakdrekaqd ilkflqingy avsrgfkdle ldtpsiekrf aysflqqlir yvdeahqyil
     2941 efdggsrgkg ehfpyeqeik ffakvvlpli dqyfknhrly flsaasrplc sgghasnkek
     3001 emvtslfckl gvlvrhrisl fgndatsivn clhilgqtld artvmktgle svksalrafl
     3061 dnaaedlekt menlkqgqft htrnqpkgvt qiinyttval lpmlsslfeh igqhqfgedl
     3121 iledvqvscy riltslyalg tsksiyverq rsalgeclaa fagafpvafl ethldkhniy
     3181 siyntkssre raalslptnv edvcpnipsl eklmeeivel aesgirytqm phvmevilpm
     3241 lcsymsrwwe hgpennpera emcctalnse hmntllgnil kiiynnlgid egawmkrlav
     3301 fsqpiinkvk pqllkthflp lmeklkkkaa tvvseedhlk aeargdmsea ellildeftt
     3361 lardlyafyp llirfvdynr akwlkepnpe aeelfrmvae vfiywskshn fkreeqnfvv
     3421 qneinnmsfl itdtkskmsk aavsdqerkk mkrkgdrysm qtslivaalk rllpiglnic
     3481 apgdqelial aknrfslkdt edevrdiirs nihlqgkled pairwqmaly kdlpnrtddt
     3541 sdpektverv ldianvlfhl eqkskrvgrr hyclvehpqr skkavwhkll skqrkravva
     3601 cfrmaplynl prhravnlfl qgyekswiet eehyfedkli edlakpgaep peedegtkrv
     3661 dplhqlillf srtaltekck leedflymay adimakschd eedddgeeev ksfevtgsqr
     3721 skekemekqk llyqqarlhd rgaaemvlqt isaskgetgp mvaatlklgi ailnggnstv
     3781 qqkmldylke kkdvgffqsl aglmqscsvl dlnaferqnk aeglgmvtee gsgekvlqdd
     3841 eftcdlfrfl qllceghnsd fqnylrtqtg nnttvniiis tvdyllrvqe sisdfywyys
     3901 gkdvideqgq rnfskaiqva kqvfntltey iqgpctgnqq slahsrlwda vvgflhvfah
     3961 mqmklsqdss qiellkelmd lqkdmvvmll smlegnvvng tigkqmvdml vessnnvemi
     4021 lkffdmflkl kdltssdtfk eydpdgkgvi skrdfhkame shkhytqset efllscaetd
     4081 enetldyeef vkrfhepakd igfnvavllt nlsehmpndt rlqtflelae svlnyfqpfl
     4141 grieimgsak riervyfeis essrtqwekp qvkeskrqfi fdvvneggek ekmelfvnfc
     4201 edtifemqla aqisesdlne rsankeesek erpeeqgprm affsiltvrs alfalrynil
     4261 tlmrmlslks lkkqmkkvkk mtvkdmvtaf fssywsifmt llhfvasvfr gffriicsll
     4321 lggslvegak kikvaellan mpdptqdevr gdgeegerkp leaalpsedl tdlkeltees
     4381 dllsdifgld lkreggqykl iphnpnagls dlmsnpvpmp evqekfqeqk akeeekeeke
     4441 etksepekae gedgekeeka kedkgkqklr qlhthrygep evpesafwkk iiayqqklln
     4501 yfarnfynmr mlalfvafai nfillfykvs tssvvegkel ptrsssenak vtsldssshr
     4561 iiavhyvlee ssgymeptlr ilailhtvis ffciigyycl kvplvifkre kevarklefd
     4621 glyiteqpse ddikgqwdrl vintqsfpnn ywdkfvkrkv mdkygefygr drisellgmd
     4681 kaaldfsdar ekkkpkkdss lsavlnsidv kyqmwklgvv ftdnsflyla wymtmsvlgh
     4741 ynnfffaahl ldiamgfktl rtilssvthn gkqlvltvgl lavvvylytv vafnffrkfy
     4801 nksedgdtpd mkcddmltcy mfhmyvgvra gggigdeied pagdeyeiyr iifditffff
     4861 vivillaiiq gliidafgel rdqqeqvked metkcficgi gndyfdtvph gfethtlqeh
     4921 nlanylfflm ylinkdeteh tgqesyvwkm yqercweffp agdcfrkqye dqln
//
LOCUS       XP_054194138             707 aa            linear   PRI 20-MAR-2023
DEFINITION  splicing factor, proline- and glutamine-rich isoform X1 [Homo
            sapiens].
ACCESSION   XP_054194138
VERSION     XP_054194138.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338163.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..707
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..707
                     /product="splicing factor, proline- and glutamine-rich
                     isoform X1"
                     /calculated_mol_wt=76019
     CDS             1..707
                     /gene="SFPQ"
                     /gene_synonym="POMP100; PPP1R140; PSF"
                     /coded_by="XM_054338163.1:97..2220"
                     /db_xref="GeneID:6421"
                     /db_xref="HGNC:HGNC:10774"
                     /db_xref="MIM:605199"
ORIGIN      
        1 msrdrfrsrg gggggfhrrg ggggrgglhd frspppgmgl nqnrgpmgpg pgqsgpkppi
       61 ppppphqqqq qpppqqpppq qppphqppph pqphqqqqpp pppqdsskpv vaqgpgpapg
      121 vgsappasss appatpptsg appgsgpgpt ptpppavtsa ppgappptpp ssgvpttppq
      181 aggpppppaa vpgpgpgpkq gpgpggpkgg kmpggpkpgg gpglstpggh pkpphrggge
      241 prggrqhhpp yhqqhhqgpp pggpggrsee kisdsegfka nlsllrrpge ktytqrcrlf
      301 vgnlpadite defkrlfaky gepgevfink gkgfgfikle sralaeiaka elddtpmrgr
      361 qlrvrfatha aalsvrnlsp yvsnelleea fsqfgpiera vvivddrgrs tgkgivefas
      421 kpaarkafer csegvflltt tprpvivepl eqlddedglp eklaqknpmy qkeretpprf
      481 aqhgtfeyey sqrwksldem ekqqreqvek nmkdakdkle semedayheh qanllrqdlm
      541 rrqeelrrme elhnqemqkr kemqlrqeee rrrreeemmi rqremeeqmr rqreesysrm
      601 gymdprerdm rmggggamnm gdpygsggqk fpplgggggi gyeanpgvpp atmsgsmmgs
      661 dmrterfgqg gagpvggqgp rgmgpgtpag ygrgreeyeg pnkkprf
//
LOCUS       XP_054194753             750 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein axonemal intermediate chain 4 isoform X7 [Homo sapiens].
ACCESSION   XP_054194753
VERSION     XP_054194753.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338778.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..750
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..750
                     /product="dynein axonemal intermediate chain 4 isoform X7"
                     /calculated_mol_wt=83094
     CDS             1..750
                     /gene="DNAI4"
                     /gene_synonym="DIC4; WDR78"
                     /coded_by="XM_054338778.1:26..2278"
                     /db_xref="GeneID:79819"
                     /db_xref="HGNC:HGNC:26252"
                     /db_xref="MIM:619156"
ORIGIN      
        1 mtpgkhsgas araanagawg yrdfrggqkk gwwttpqlva tmpvspagsh kqqnfglnna
       61 tqpkksisff atmkatsvkg ytganqsrma vsktvlippe lktvekpnpn ikttqvfdin
      121 gtdvtprply hpdpltgtak psklltsqeg slgsefissy slyqntinps tlgqftrsvl
      181 gsstvskssv sasesiaedl eepsykrerl tsftdlqvir aapekivtke dleknieiil
      241 tetetlrffd lptvmvsves eeaekvtqrn knyevlcrnr lgndlyverm mqtfngapkn
      301 kdvqcdkiim edkgimstaw dlydsyname lvslsvkqsv vessskanvl pkdqdqrlpg
      361 sttekkpepe epedvlesak heeveeeskk eeeeeihaee stipanlerl wsfscdltkg
      421 lnvsslawnk tnpdllavgy ghfgfkeqkr glaccwsikn pmwperiyqs pygvtavdfs
      481 igapnllavg yhngtiaiyn vrsnsnvpvl dssespqkhl gpvwqlqwie qdrgttgdgk
      541 reilvsisad griskwvirk gldcydlmrl krttaasnkk ggekekkdea lisrqapgmc
      601 fafhpkgpvy kvtwnpfchd vflscsadwg viiwqqenvk pslsfypats vvydvawspk
      661 ssyifaaane nrveiwdlhi stldplivnt anpgikftti lfakqtdcll vgdsdgqvsv
      721 yelrnmptvl etgrgdimdt llgsksnqsa
//
LOCUS       XP_054194894             342 aa            linear   PRI 20-MAR-2023
DEFINITION  sorting nexin-27 isoform X7 [Homo sapiens].
ACCESSION   XP_054194894
VERSION     XP_054194894.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338919.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..342
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..342
                     /product="sorting nexin-27 isoform X7"
                     /calculated_mol_wt=40265
     CDS             1..342
                     /gene="SNX27"
                     /gene_synonym="MRT1; MY014"
                     /coded_by="XM_054338919.1:650..1678"
                     /db_xref="GeneID:81609"
                     /db_xref="HGNC:HGNC:20073"
                     /db_xref="MIM:611541"
ORIGIN      
        1 magrqlcskr yrefailhqn lkrefanftf prlpgkwpfs lseqqldarr rgleeylekv
       61 csirvigesd imqeflsesd enyngvsdve lrvalpdgtt vtvrvkknst tdqvyqaiaa
      121 kvgmdsttvn yfalfevish sfvrklapne fphklyiqny tsavpgtclt irkwlfttee
      181 eillndndla vtyffhqavd dvkkgyikae eksyqlqkly eqrkmvmyln mlrtcegyne
      241 iifphcacds rrkghvitai sithfklhac teegqlenqv iafewdemqr wdtdeegmaf
      301 cfeyargekk prwvkiftpy fnymhecfer vfcelkwrke ey
//
LOCUS       XP_054195233             276 aa            linear   PRI 20-MAR-2023
DEFINITION  Fc receptor-like A isoform X1 [Homo sapiens].
ACCESSION   XP_054195233
VERSION     XP_054195233.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339258.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..276
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..276
                     /product="Fc receptor-like A isoform X1"
                     /calculated_mol_wt=29633
     CDS             1..276
                     /gene="FCRLA"
                     /gene_synonym="FCRL; FCRL1; FCRLb; FCRLc1; FCRLc2; FCRLd;
                     FCRLe; FCRLM1; FCRLX; FCRX; FREB"
                     /coded_by="XM_054339258.1:37..867"
                     /db_xref="GeneID:84824"
                     /db_xref="HGNC:HGNC:18504"
                     /db_xref="MIM:606891"
ORIGIN      
        1 mklgcvlmaw alylslgvlw vaqmllaagc haaasfetlq cegpvctees schteddltd
       61 areagfqvka ytfsepfhli vsyelfpapi lravpsaepq agspmtlscq tklplqrsaa
      121 rllfsfykdg rivqsrglss efqiptased hsgsywceaa tednqvwkqs pqleirvqga
      181 sssaapptln papqksaapg tapeeapgpl pppptpssed pgfssplgmp dphlyhqmgl
      241 llkhmqdvrv llghllmelr elsghqkpgt tkatae
//
LOCUS       XP_054195376             310 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-1,4-galactosyltransferase 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054195376
VERSION     XP_054195376.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339401.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..310
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..310
                     /product="beta-1,4-galactosyltransferase 3 isoform X2"
                     /calculated_mol_wt=34627
     CDS             1..310
                     /gene="B4GALT3"
                     /gene_synonym="beta4Gal-T3"
                     /coded_by="XM_054339401.1:251..1183"
                     /db_xref="GeneID:8703"
                     /db_xref="HGNC:HGNC:926"
                     /db_xref="MIM:604014"
ORIGIN      
        1 mlrrllerpc tlallvgsql avmmylslgg frslsalfgr dqgptfdysh prdvysnlsh
       61 lpgapggppa pqglpycper spllvgpvsv sfspvpslae ivernprvep ggryrpagce
      121 prsrtaiivp hrarehhlrl llyhlhpflq rqqlaygiyv ihqagngtfn rakllnvgvr
      181 ealrdeewdc lflhdvdllp endhnlyvcd prgprhvava mnkfgyslpy pqyfggvsal
      241 tpdqylkmng fpneywgwgg edddiatrvr lagmkisrpp tsvghykmvk hrgdkgneen
      301 phripgrkmg
//
LOCUS       XP_054222284            1141 aa            linear   PRI 20-MAR-2023
DEFINITION  tudor domain-containing protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054222284
VERSION     XP_054222284.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366309.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1141
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1141
                     /product="tudor domain-containing protein 1 isoform X2"
                     /calculated_mol_wt=127028
     CDS             1..1141
                     /gene="TDRD1"
                     /gene_synonym="CT41.1"
                     /coded_by="XM_054366309.1:137..3562"
                     /db_xref="GeneID:56165"
                     /db_xref="HGNC:HGNC:11712"
                     /db_xref="MIM:605796"
ORIGIN      
        1 msvkspfnvm srnnleappc kmtepfnfek nenklpphes lrspgtlpnh pnfrlkssen
       61 gnkknnfllc eqtkqylasq ednsvssnpn gingevvgsk gdrkklpagn svsppsaesn
      121 sppkevnikp gnnvrpaksk klnklvensl sisnpglfts lgpplrsttc hrcglfgslr
      181 csqckqtyyc stacqrrdws ahsivcrpvq pnfhklenks sietkdvevn nksdcplgvt
      241 keiaiwaeri mfsdlrslql kktmeikgtv tefkhpgdfy vqlyssevle ymnqlsaslk
      301 etyanvhekd yipvkgevci akytvdqaik cfvanvipae gnwssdcika tkpllmeqyc
      361 sikivdilee evvtfaveve lpnsgklldh vliemgyglk psgqdskken adqsdpedvg
      421 kmttennivv dksdlipkvl tlnvgdefcg vvahiqtped ffcqqlqsgr klaelqasls
      481 kycdqlpprs dfypaigdic caqfseddqw yrasvlayas eesvlvgyvd ygnfeilslm
      541 rlcpiipkll elpmqaikcv lagvkpslgi wtpeaiclmk klvqnkiitv kvvdklenss
      601 lvelidkset phvsvskvll dagfavgeqs mvtdkpsdvk etsvplgveg kvnplewtwv
      661 elgvdqtvdv vvcviyspge fychvlkeda lkklndlnks laehcqqklp ngfkaeigqp
      721 ccaffagdgs wyralvkeil pnghvkvhfv dygnieevta delrmisstf lnlpfqgirc
      781 qladiqsrnk hwseeaitrf qmcvagiklq arvvevteng igveltdlst cypriisdvl
      841 idehlvlksa sphkdlpndr lvnkhelqvh vqglqatssa eqwktielpv dktiqanvle
      901 iispnlfyal pkgmpenqek lcmltaelle ycnapksrpp yrprigdacc akytsddfwy
      961 ravvlgtsdt dvevlyadyg nietlplcrv qpitsshlal pfqiircsle glmelngsss
     1021 qliimllknf mlnqnvmlsv kgitknvhtv svekcsengt vdvadklvtf glaknitpqr
     1081 qsalntekmy rmnccctelq kqvekhehil lfllnnstnq nkfiemkkll kktaslggkp
     1141 l
//
LOCUS       XP_054222298            1897 aa            linear   PRI 20-MAR-2023
DEFINITION  sickle tail protein homolog isoform X6 [Homo sapiens].
ACCESSION   XP_054222298
VERSION     XP_054222298.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366323.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1897
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1897
                     /product="sickle tail protein homolog isoform X6"
                     /calculated_mol_wt=209021
     CDS             1..1897
                     /gene="KIAA1217"
                     /gene_synonym="ETL4; SKT"
                     /coded_by="XM_054366323.1:57..5750"
                     /db_xref="GeneID:56243"
                     /db_xref="HGNC:HGNC:25428"
                     /db_xref="MIM:617367"
ORIGIN      
        1 meenesqkce pclpysadrr qmqeqgkgnl hvtspedaec rrtkerlsng nsrgsvskss
       61 rniprrhtlg gprsskeilg mqtsemdrkr eaflehlkqk yphhasaimg hqerlrdqtr
      121 spklshspqp pslgdpvehl setsgdslea msegdaptpf srgsrtrasl pvvrstnqtk
      181 erslgvlylq ygdetkqlrm pneitsadti ralfvsafpq qltmkmlesp svaiyikdes
      241 rnvyyelndv rniqdrsllk vynkdpahaf nhtpktmngd mrmqrelvya rgdgpgaprp
      301 gstahpphai pnsppstpvp hsmppspsri pyggtrsmvv pgnatiprdr isslpvsrpi
      361 spspsailer rdvkpdedms gkniamyrne gfyadpylyh egrmsiassh gghpldvpdh
      421 iiayhrtair sasaycnpsm qaemhmeqsl yrqksrkypd shlptlgskt ppasphrvsd
      481 lrmidmhahy nahgpphtmq pdraspsrqa fkkepgtlvy iekprsaagl sslvdlgppl
      541 mekqvfayst atipkdrets ekmmkttanr nhtdsagtph vsggkmlsal estvppsqpp
      601 pvgtsaihms llemrrsvae lrlqlqqmrq lqlqnqellr ammkkaelei sgkvmetmkr
      661 ledpvqrqrv lveqerqkyl heeekivkkl celedfvedl kkdstaasrl vtlkdvedga
      721 fllrqvgeav atlkgefptl qnkmrailri eveavrflke ephkldsllk rvrsmtdvlt
      781 mlrrhvtdgl lkgtdaaqaa qymamekata aevlksqeea ahtsgqpfhs tgapgdakse
      841 vvplsgmmvr htqsspvviq psqhsvalln paqnlphvas spavpqeats tlqmsqapqs
      901 pqipmngsam qslfieeihs kaekkweekr qnldhyngke feklleeaqa nimksipnle
      961 mppatgplpr gdapvdkvel sedspnseqd leklggkspp pppppprrsy lpgsgltttr
     1021 sgdvvytgrk enitakasse dagpspqtra tkypaeepas awtpspppvt tssskdeeee
     1081 eeegdkimae lqafqkcsfm dvnsnshaep sradshvkdt rsgatvppke kknleffhed
     1141 vrksdveyen gpqmefqkvt tgavrpsdpp kwergmensi sdasrtseyk teiimkensi
     1201 snmsllrdsr nysqetvpka sfgfsgispl edeinkgski sglqysipdt enqtlnygkt
     1261 kemekqntdk chvsshtrlt essvhdfkte dqevittdfg qvvlrpkear hanvnpnedg
     1321 esssssptee naatdniafm itettvqvls sgevhdivsq kgediqtvni darkemtprq
     1381 egtdnedpvv cldkkpviii fdepmdirsa ykrlstifee cdeelermmm eekieeeeee
     1441 engdsvvqnn ntsqmshkkv apgnlrtgqq vetksqphsl atetrnpggq emnrtelnkf
     1501 shvdspnsec kgedatddqf espkkkfkfk fpkkqlaalt qairtgtktg kktlqvvvye
     1561 eeeedgtlkq hkeakrfeia rsqpedtpen tvrrqeqpsi estspisrtd eirkntyrtl
     1621 dsleqtikql entisemspk alvdtscssn rdsvassshi aqeasprpll vpdegptale
     1681 pptsipsasr kgssgapqts rmpvpmsakn rpgtldkpgk qsklqdprqy rqangsakks
     1741 ggdfkptsps lpaskipals pssgkssslp sssgdssnlp nppatkpsia snplspqtgp
     1801 pahsaslips vsngslkfqs lthtgkghhl sfspqsqngr appplsfsss ppspassvsl
     1861 nqgakgtrti htpsltsyka qngssskatp stakets
//
LOCUS       XP_054222958             946 aa            linear   PRI 20-MAR-2023
DEFINITION  myopalladin isoform X3 [Homo sapiens].
ACCESSION   XP_054222958
VERSION     XP_054222958.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366983.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..946
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..946
                     /product="myopalladin isoform X3"
                     /calculated_mol_wt=103756
     CDS             1..946
                     /gene="MYPN"
                     /gene_synonym="CMD1DD; CMH22; MYOP; NEM11; RCM4"
                     /coded_by="XM_054366983.1:424..3264"
                     /db_xref="GeneID:84665"
                     /db_xref="HGNC:HGNC:23246"
                     /db_xref="MIM:608517"
ORIGIN      
        1 mnriqkpnev ssppttsavi ppavpqaqhl vaqprvatiq qcqsptnylq gldgkpiiaa
       61 pvftkmlqnl sasegqlvvf ecrvkgapsp kvewyregtl iedspdfril qkkprsmaep
      121 eeictlviae vfaedsgcft ctasnkygtv ssiaqlhvrg nedlsnngsl hsansttnla
      181 aiepqpspph seppsveqpp kpklegvlvn hneprsssri glrvhfnlpe ddkgseasse
      241 agvvttrqtr pdsfqerfng qatktpepss pvkepppvla kpkldstqlq qlhnqvlleq
      301 hqlqnpppss pkefpfsmtv lnsnappavt tsskqvkaps sqtfslarpk yffpstntta
      361 atvapssspv ftlsstpqti qrtvskesll vshpsvqtks pgglsiqnep lppgpteptp
      421 ppftfsiprg nqfqprcvsp ipvsptsriq npvaflssvl pslpaipptn amglprsaps
      481 mpsqglakkn tkspqpvndd niretknavi rdlgkkitfs dvrpnqqeyk issfeqrlmn
      541 eiefrlertp vdesddeiqh deiptgkcia pifdkrlkhf rvtegspvtf tckivgipvp
      601 kvywfkdgkq iskrnehckm rregdgtcsl hiesttsddd gnytimaanp qgriscsghl
      661 mvqslpirsr ltsagqshrg rsrvqerdke plqerffrph flqapgdmva hegrlcrldc
      721 kvsglpppel twllngqpvl pdashkmlvr etgvhsllid pltqrdagty kciatnktgq
      781 nsfslelsvv akevkkapvi leklqncgvp eghpvrlecr vigmpppvfy wkkdnetipc
      841 trerismhqd ttgyaclliq pakksdagwy tlsakneagi vsctarldiy aqwhhqippp
      901 msvrpsgsry gsltskgldi fsafssmest mvyscssrsv vesdel
//
LOCUS       XP_054225727            1452 aa            linear   PRI 20-MAR-2023
DEFINITION  spectrin beta chain, non-erythrocytic 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054225727
VERSION     XP_054225727.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369752.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1452
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1452
                     /product="spectrin beta chain, non-erythrocytic 2 isoform
                     X3"
                     /calculated_mol_wt=164793
     CDS             1..1452
                     /gene="SPTBN2"
                     /gene_synonym="GTRAP41; SCA5; SCAR14"
                     /coded_by="XM_054369752.1:2397..6755"
                     /db_xref="GeneID:6712"
                     /db_xref="HGNC:HGNC:11276"
                     /db_xref="MIM:604985"
ORIGIN      
        1 mngngvsrvh gnglheasef yyeavegahn pgglllspaa finpaqyasv legrfkqlqd
       61 ereavqkktf tkwvnshlar vtcrvgdlys dlrdgrnllr llevlsgeil pkptkgrmri
      121 hclenvdkal qflkeqkvhl enmgshdivd gnhrltlglv wtiilrfqiq disvetednk
      181 ekksakdall lwcqmktagy pnvnvhnftt swrdglafna ivhkhrpdll dfeslkkcna
      241 hynlqnafnl aekelgltkl ldpedvnvdq pdeksiityv atyyhyfskm kalavegkri
      301 gkvldhamea erlvekyesl asellqwieq tivtlndrql anslsgvqnq lqsfnsyrtv
      361 ekppkftekg nlevllftiq sklrannqkv ytpregrlis dinkawerle kaeherelal
      421 rtelirqekl eqlaarfdrk aamretwlse nqrlvsqdnf glelaaveaa vrkheaietd
      481 ivaysgrvqa vdavaaelaa eryhdikria arqhnvarlw dflrqmvaar rerlllnlel
      541 qkvfqdllyl mdwmeemkgr lqsqdlgrhl agvedllqlh elveadiavq aervravsas
      601 alrfcnpgke yrpcdpqlvs ervakleqsy ealcelaaar rarleesrrl wrflwevgea
      661 eawvreqqhl lasadtgrdl tgalrllnkh talrgemsgr lgplkltleq gqqlvaeghp
      721 gasqasaraa elqaqwerle alaeeraqrl aqaaslyqfq adandmeawl vdalrlvssp
      781 elghdefstq alarqhrale eeirshrptl dalreqaaal pptlsrtpev qgrvptlerh
      841 yeelqarage raraleaala lytmlseaga cglwveekeq wlnglalper ledlevvqqr
      901 fetlepemnt laaqitavnd iaeqllkanp pgkdrivntq eqlnhrwqqf rrladgkkaa
      961 ltsalsiqny hlectetqaw mrektkvies tqglgndlag vlalqrklag terdleaiaa
     1021 rvgeltrean alaaghpaqa vainarlrev qtgwedlrat mrrreeslge arrlqdflrs
     1081 lddfqawlgr tqtavaseeg patlpeaeal laqhaalrge veraqseysr lralgeevtr
     1141 dqadpqclfl rqrlealgtg weelgrmwes rqgrlaqahg fqgflrdarq aegvlssqey
     1201 vlshtempgt lqaadaaikk ledfmstmda ngerihglle agrqlvsegn ihadkireka
     1261 dsierrhkkn qdaaqqflgr lrdnreqqhf lqdchelklw idekmltaqd vsydearnlh
     1321 tkwqkhqafm aelaankdwl dkvdkavgqi tpwavcslpi lifescrpwf lvshpavpqe
     1381 srtdkalyll skypyrtwyv lnslrgtags tkrhfpflkg mmvgtkgdqc afkcfhsfsk
     1441 yllgatiska ly
//
LOCUS       XP_054228903             376 aa            linear   PRI 20-MAR-2023
DEFINITION  arginine/serine-rich coiled-coil protein 2 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054228903
VERSION     XP_054228903.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372928.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..376
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..376
                     /product="arginine/serine-rich coiled-coil protein 2
                     isoform X5"
                     /calculated_mol_wt=43746
     CDS             1..376
                     /gene="RSRC2"
                     /coded_by="XM_054372928.1:119..1249"
                     /db_xref="GeneID:65117"
                     /db_xref="HGNC:HGNC:30559"
                     /db_xref="MIM:619996"
ORIGIN      
        1 mirtnfflkq grrheskdks skkhkseehn dkehssdkgr erlnssenge drhkrkerks
       61 srgrshsrsr srerrhrsrs rerkksrsrs rerkksrsrs rerkksrsrs rerkrrirsr
      121 srsrsrhrhr trsrsrtrsr srdrkkriek prrfsrslsr tpspppfrgr ntamdaqeal
      181 arrlerakkl qeqrekemve kqkqqeiaaa aaatggsvln vaallasgtq vtpqiamaaq
      241 maalqakala etgiavpsyy npaavnpmkf aeqekkrkml wqgkkegdks qsaeiwekln
      301 fgnkdqnvkf rklmgiksed eagcssvdee syktlkqqee vfrnldaqye marsqthtqr
      361 gmglgftssm rgmdav
//
LOCUS       XP_054230093             428 aa            linear   PRI 20-MAR-2023
DEFINITION  purine nucleoside phosphorylase LACC1 isoform X2 [Homo sapiens].
ACCESSION   XP_054230093
VERSION     XP_054230093.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374118.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..428
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..428
                     /product="purine nucleoside phosphorylase LACC1 isoform
                     X2"
                     /calculated_mol_wt=47639
     CDS             1..428
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /coded_by="XM_054374118.1:796..2082"
                     /db_xref="GeneID:144811"
                     /db_xref="HGNC:HGNC:26789"
                     /db_xref="MIM:613409"
ORIGIN      
        1 maeavlidlf glklnsqknc hqtllktlna vqyhhaakak flcimccsni syerdgeqdn
       61 ceietsngls alleefeivs cpsmaatlyt ikqkideknl ssikvivprh rktlmkafid
      121 qlftdvynfe fedlqvtfrg glfkqsiein vitaqelrgi qneietflrs lpalrgklti
      181 itsslipdif ihgfttrtgg isyiptlssf nlfssskrrd pkvvvqenlr rlanaagfnv
      241 ekfyrikthh sndvwimgrk epdsydgitt nqrgvtiaal gadcipivfa dpvkkacgva
      301 hagwkgtllg vamatvnami aeygcsledi vvvlgpsvgp ccftlpresa eafhnlhpac
      361 vqlfdspnpc idirkatryl tgflyncflp pskltarekf scliylkpng lqwiihllgi
      421 flllfkak
//
LOCUS       XP_054231235             788 aa            linear   PRI 20-MAR-2023
DEFINITION  gephyrin isoform X8 [Homo sapiens].
ACCESSION   XP_054231235
VERSION     XP_054231235.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375260.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..788
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..788
                     /product="gephyrin isoform X8"
                     /calculated_mol_wt=85382
     CDS             1..788
                     /gene="GPHN"
                     /gene_synonym="GEPH; GPH; GPHRYN; HKPX1; MOCODC"
                     /coded_by="XM_054375260.1:382..2748"
                     /db_xref="GeneID:10243"
                     /db_xref="HGNC:HGNC:15465"
                     /db_xref="MIM:603930"
ORIGIN      
        1 mategmiltn hdhqirvgvl tvsdscfrnl aedrsginlk dlvqdpsllg gtisaykivp
       61 deieeiketl idwcdekeln lilttggtgf aprdvtpeat keviereapg malamlmgsl
      121 nvtplgmlsr pvcgirgktl iinlpgskkg sqecfqfilp alphaidllr daivkvkevh
      181 deledlpspp pplsppptts phkqtedkgv qceeeeeekk dsgvasteds ssshitaaai
      241 aakkhpfyts pavvmahgeq pipglinysh hstderipds iisrgvqvlp rdtaslsttp
      301 sespraqats rlstascptp kqirrpdesk gvasrvgslk vqsrcssken ilrashsavd
      361 itkvarrhrm spfpltsmdk afitvlemtp vlgteiinyr dgmgrvlaqd vyakdnlppf
      421 pasvkdgyav raadgpgdrf iigesqageq ptqtvmpgqv mrvttgapip cgadavvqve
      481 dteliresdd gteelevril vqarpgqdir pighdikrge cvlakgthmg pseigllatv
      541 gvtevevnkf pvvavmstgn ellnpeddll pgkirdsnrs tllatiqehg yptinlgivg
      601 dnpddllnal negisradvi itsggvsmge kdylkqvldi dlhaqihfgr vfmkpglptt
      661 fatldidgvr kiifalpgnp vsavvtcnlf vvpalrkmqg ildprptiik arlscdvkld
      721 prpeyhrcil twhhqeplpw aqstgnqmss rlmsmrsang llmlppkteq yvelhkgevv
      781 dvmvigrl
//
LOCUS       XP_054233383             581 aa            linear   PRI 20-MAR-2023
DEFINITION  fibrous sheath-interacting protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054233383
VERSION     XP_054233383.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377408.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..581
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..581
                     /product="fibrous sheath-interacting protein 1 isoform X1"
                     /calculated_mol_wt=65990
     CDS             1..581
                     /gene="FSIP1"
                     /gene_synonym="HSD10"
                     /coded_by="XM_054377408.1:222..1967"
                     /db_xref="GeneID:161835"
                     /db_xref="HGNC:HGNC:21674"
                     /db_xref="MIM:615795"
ORIGIN      
        1 mdiikgnldg iskpasnsri rpgsrssnas levlstepgs fkvdtasnln sgkedhsess
       61 ntenrrtsnd dkqescseki klaeegsded ldlvqhqiis ecsdepklke ldsqlqdaiq
      121 kmkkldkila kkqrrekeik kqglemrikl weeiksakys eawqskeeme ntkkflslta
      181 vseetvgpsh eeedtfssvf htqippeeye mqmqklnkdf tcdvernesl iksgkkpfsn
      241 tekielrgkh nqdfikrnie lakesrnpvv mvdrekkrlv ellkdldekd sglsssegdq
      301 sgwvvpvkgy elavtqhqql aeidiklqel saasptissf sprlenrnnq kpdrdgernm
      361 evtpgekilr ntkeqrdlhn rlreideklk mmkenvlest sclseeqlkc lldecilkqk
      421 siiklsserk kediedvtpv fpqlsrsiis kllnesetkv qktevedadm leseeceask
      481 gyyltkaltg hnmsealvte aenmkclqfs kdviisdtkd yfmsktlgig rlkrpsfldd
      541 plygisvsls sedqhlklss pentiadeqe tkdaaeecke p
//
LOCUS       XP_054233647            1102 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 72 isoform X1 [Homo sapiens].
ACCESSION   XP_054233647
VERSION     XP_054233647.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377672.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1102
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1102
                     /product="WD repeat-containing protein 72 isoform X1"
                     /calculated_mol_wt=123279
     CDS             1..1102
                     /gene="WDR72"
                     /gene_synonym="AI2A3"
                     /coded_by="XM_054377672.1:195..3503"
                     /db_xref="GeneID:256764"
                     /db_xref="HGNC:HGNC:26790"
                     /db_xref="MIM:613214"
ORIGIN      
        1 mrtslqaval wgqkapphsi taimitddqr tivtgsqegq lclwnlshel kisakellfg
       61 hsasvtclar ardfskqpyi vsaaengemc vwnvtngqcv ekatlpyrht aicyyhcsfr
      121 mtgegwllcc geyqdvliid aktlavvhsf rssqfpdwin cmcivhsmri qedsllvvsv
      181 agelkvwdls ssinsiqekq dvyekeskfl eslncqtirf ctyterlllv vfskcwkvyd
      241 ycdfslllte vsrngqffag geviaahril iwtedghsyi yqllnsglsk siypadgrvl
      301 ketiylhllc stsvqenkeq srpfvmgymn erkepfykvl fsgevsgrit lwhipdvpvs
      361 kfdgspreip vtatwtlqdn fdkhdtmsqs iidyfsglkd gagtavvtss eyipsldkli
      421 cgcedgtiii tqalnaakar lleggslvkd spphkvlkgh hqsvtsllyp hglsskldqs
      481 wmlsgdldsc vilwdiftee ilhkffleag pvtsllmspe kfklrgeqii ccvcgdhsva
      541 llhlegkscl lharkhlfpv rmikwhpven flivgcadds vyiweietgt lerhetgera
      601 riilnccdds qlvksvlpia setlkhksie qrssspyqlg plpcpglqve ssckvtdakf
      661 cprpfnvlpv ktkwsnvgfh illfdlenlv elllptplsd vdssssfygg evlrrakstv
      721 ekktltlrks ktacgplsae alakpitesl aqgdntikfs eendgikrqk kmkiskkmqp
      781 kpsrkvdasl tidtaklfls cllpwgvdkd ldylcikhln ilklqgpisl gislnednfs
      841 lmlpgwdlcn sgmikdysgv nlfsrkvldl sdkytatlpn qvgiprglen ncdslresdt
      901 ivyllsrlfl vnklvnmple lacrvgssfr mesihnkmrg agndilnmss fysclrngkn
      961 eshvpeadls llkliscwrd qsvqvteaiq avllaevqqh mkslgkipvn sqpvsmaeng
     1021 ncemkqmlpk lewteelelq cvrntlplqt pvspvkhdsn snsanfqdve dmpdrcalee
     1081 sespgeprhh swiakvcpck vs
//
LOCUS       XP_054234275             855 aa            linear   PRI 20-MAR-2023
DEFINITION  dipeptidyl peptidase 8 isoform X2 [Homo sapiens].
ACCESSION   XP_054234275
VERSION     XP_054234275.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378300.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..855
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..855
                     /product="dipeptidyl peptidase 8 isoform X2"
                     /calculated_mol_wt=98296
     CDS             1..855
                     /gene="DPP8"
                     /gene_synonym="DP8; DPRP-1; DPRP1; MST097; MSTP097;
                     MSTP135; MSTP141"
                     /coded_by="XM_054378300.1:304..2871"
                     /db_xref="GeneID:54878"
                     /db_xref="HGNC:HGNC:16490"
                     /db_xref="MIM:606819"
ORIGIN      
        1 mwkrseqmki ksgkcnmaaa meteqlgvei fetadceeni esqdrpklep fyveryswsq
       61 lkklladtrk yhgymmakap hdfmfvkrnd pdgphsdriy ylamsgenre ntlfyseipk
      121 tinraavlml swkplldlfq atldygmysr eeellrerkr igtvgiasyd yhqgsgtflf
      181 qagsgiyhvk dggpqgftqq plrpnlvets cpnirmdpkl cpadpdwiaf ihsndiwisn
      241 ivtreerrlt yvhnelanme edarsagvat fvlqeefdry sgywwcpkae tstanpkvtf
      301 kmseimidae griidvidke liqpfeilfe gveyiaragw tpegkyawsi lldrsqtrlq
      361 ivlispelfi pveddvmerq rliesvpdsv tpliiyeett diwinihdif hvfpqsheee
      421 iefifaseck tgfrhlykit silkeskykr ssgglpapsd fkcpikeeia itsgewevlg
      481 rhgsniqvde vrrlvyfegt kdsplehhly vvsyvnpgev trltdrgysh sccisqhcdf
      541 fiskysnqkn phcvslykls speddptckt kefwatilds agplpdytpp eifsfesttg
      601 ftlygmlykp hdlqpgkkyp tvlfiyggpq vqlvnnrfkg vkyfrlntla slgyvvvvid
      661 nrgschrglk fegafkykmg qieiddqveg lqylasrydf idldrvgihg wsyggylslm
      721 almqrsdifr vaiagapvtl wifydtgyte rymghpdqne qgyylgsvam qaekfpsepn
      781 rllllhgfld envhfahtsi llsflvragk pydlqiypqe rhsirvpesg ehyelhllhy
      841 lqenlgsria alkvi
//
LOCUS       XP_054234863             981 aa            linear   PRI 20-MAR-2023
DEFINITION  probable phospholipid-transporting ATPase IM isoform X23 [Homo
            sapiens].
ACCESSION   XP_054234863
VERSION     XP_054234863.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378888.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..981
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..981
                     /product="probable phospholipid-transporting ATPase IM
                     isoform X23"
                     /calculated_mol_wt=111542
     CDS             1..981
                     /gene="ATP8B4"
                     /gene_synonym="ATPIM"
                     /coded_by="XM_054378888.1:213..3158"
                     /db_xref="GeneID:79895"
                     /db_xref="HGNC:HGNC:13536"
                     /db_xref="MIM:609123"
ORIGIN      
        1 mgilswkdsk hslnnekiil rgcilrntsw cfgmvifagp dtklmqnsgk tkfkrtsidr
       61 lmntlvlwif gfliclgiil aignsiwesq tgdqfrtflf wnegekssvf sgfltfwsyi
      121 iilntvvpis lyvsvevirl ghsyfinwdr kmyysrkaip avartttlne elgqieyifs
      181 dktgtltqni mtfkrcsing riygevhddl dqkteitqek epvdfsvksq adrefqffdh
      241 nlmesikmgd pkvheflrll alchtvmsee nsageliyqv qspdegalvt aarnfgfifk
      301 srtpetitie elgtlvtyql lafldfnntr krmsvivrnp egqiklyskg adtilfeklh
      361 psnevllslt sdhlsefage glrtlaiayr dlddkyfkew hkmledanaa teerderiag
      421 lyeeierdlm llgatavedk lqegvietvt slslanikiw vltgdkqeta inigyacnml
      481 tddmndvfvi agnnavevre elrkakqnlf gqnrnfsngh vvcekkqqle ldsiveetit
      541 gdyaliingh slahalesdv kndllelacm cktviccrvt plqkaqvvel vkkyrnavtl
      601 aigdgandvs miksahigvg isgqeglqav lasdysfaqf rylqrlllvh grwsyfrmck
      661 flcyffyknf aftlvhfwfg ffcgfsaqtv ydqwfitlfn ivytslpvla mgifdqdvsd
      721 qnsvdcpqly kpgqlnllfn krkfficvlh giytslvlff ipygafynva gedgqhiady
      781 qsfavtmats lvivvsvqia ldtsywtfin hvfiwgsiai yfsilftmhs ngifgifpnq
      841 fpfvgnarhs ltqkciwlvi llttvasvmp vvafrflkvd lyptlsdqir rwqkaqkkar
      901 ppssrrprtr rsssrrsgya fahqegygel itsgknmrak nppptsglek thynstswie
      961 nlckkttdtv ssfsqdktvk l
//
LOCUS       XP_054236095             411 aa            linear   PRI 20-MAR-2023
DEFINITION  glycine rich extracellular protein 1 isoform X7 [Homo sapiens].
ACCESSION   XP_054236095
VERSION     XP_054236095.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380120.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..411
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..411
                     /product="glycine rich extracellular protein 1 isoform X7"
                     /calculated_mol_wt=41636
     CDS             1..411
                     /gene="GREP1"
                     /gene_synonym="G029442; LA16c-380H5.1; LA16c-380H5.3;
                     LINC00514"
                     /coded_by="XM_054380120.1:112..1347"
                     /db_xref="GeneID:283875"
                     /db_xref="HGNC:HGNC:27549"
ORIGIN      
        1 mgrgvkplkt gvpalscvpv lhsphthirp clcfllllgl prsgdgngmg agaflgagaq
       61 pgynngngpg tqpgpaaqng fgpgfggggk pqkpgpttqn gyrpgyvgav kpqkpgfqyr
      121 iglgaqpgeg gfrgdmkaqe pvltaqnrfg fgaglggnvk plkpeyghgn gpgvqpglga
      181 gmkpqmpglg apngygpgrg ragvpggper rpwvphllpf sspgylgvmk aqkpgagegm
      241 kpqkpgytpg twlgllpglr gtlkpqksgh ghengpwpgp cnarvapmll prlptpgvps
      301 dkeggwglks qppsavqngk lpghqppngy gpgaepgfng glepqkigqa gvlwnsrwpt
      361 lqawgaglkp gyqagdeyae arsqpggpdv krgsngqlgn gyggrcplgk c
//
LOCUS       XP_054236588             488 aa            linear   PRI 20-MAR-2023
DEFINITION  protein BANP isoform X7 [Homo sapiens].
ACCESSION   XP_054236588
VERSION     XP_054236588.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380613.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..488
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..488
                     /product="protein BANP isoform X7"
                     /calculated_mol_wt=53058
     CDS             1..488
                     /gene="BANP"
                     /gene_synonym="BEND1; SMAR1; SMARBP1"
                     /coded_by="XM_054380613.1:244..1710"
                     /db_xref="GeneID:54971"
                     /db_xref="HGNC:HGNC:13450"
                     /db_xref="MIM:611564"
ORIGIN      
        1 mmsehdladv vqiavedlsp dhpvvlenhv vtdedepalk rqrleincqd psiksflysi
       61 nqticlrlds ieaklqalea tcksleekld lvtnkqhspi qvpmvagspl gatqtcnkvr
      121 cavpgrrqnt ivvkvpgqed shhedgesgs easdsvsscg qagsqsigsn vtlitlnsee
      181 dypngtwlgd ennpemrvrc aiipsdmlhi stncrtaekm altlldylfh revqavsnls
      241 gqgkhgkkql dpltiygirc hlfykfgite sdwyrikqsi dskcrtawrr kqrgqslavk
      301 sfsrrtpnss sycpsepmms tpppaselpq pqpqpqalhy alanaqqvqi hqigedgqvq
      361 vghlhiaqvp qgeqvqitqd segnlqihhv gqdgqlleat ripcllapsv fkassgqvlq
      421 gaqliavass dpaaagvdgs plqgsdiqvq yvqlapvsdh tagaqtaeal qptlqpemql
      481 ehgaiqiq
//
LOCUS       XP_054169544             220 aa            linear   PRI 20-MAR-2023
DEFINITION  WAP four-disulfide core domain protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054169544
VERSION     XP_054169544.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313569.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..220
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..220
                     /product="WAP four-disulfide core domain protein 1 isoform
                     X2"
                     /calculated_mol_wt=23845
     CDS             1..220
                     /gene="WFDC1"
                     /gene_synonym="PS20"
                     /coded_by="XM_054313569.1:822..1484"
                     /db_xref="GeneID:58189"
                     /db_xref="HGNC:HGNC:15466"
                     /db_xref="MIM:605322"
ORIGIN      
        1 mpltgvgpgs crrqiiralc llllllhags akniwkralp arlaeksrae eagapggprq
       61 pradrcpppp rtlppgacqa arcqadsecp rhrrccyngc ayacleavpp ppvldwlvqp
      121 kprwlggngw lldgpeevlq aeacsttedg aepllcpsgy echilspgdv aegipnrgqc
      181 vkqrrqadgr ilrhklykey pegdsknvae pgrgqqkhfq
//
LOCUS       XP_054171314             597 aa            linear   PRI 20-MAR-2023
DEFINITION  folliculin isoform X1 [Homo sapiens].
ACCESSION   XP_054171314
VERSION     XP_054171314.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315339.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..597
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..597
                     /product="folliculin isoform X1"
                     /calculated_mol_wt=66404
     CDS             1..597
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /coded_by="XM_054315339.1:396..2189"
                     /db_xref="GeneID:201163"
                     /db_xref="HGNC:HGNC:27310"
                     /db_xref="MIM:607273"
ORIGIN      
        1 mnaivalchf celhgprtlf ctevlhaplp qgdgnedspg qgeqaeeeeg giqmnsrmra
       61 hspaegasve ssspgpkksd mcegcrslaa ghpgyishdk etsikyvshq hpshpqlfsi
      121 vrqacvrsls cecresavaa ltcwffcmlq vcpgregpif fgdeqhgfvf shtffikdsl
      181 argfqrwysi itimmdriyl inswpfllgk vrgiidelqg kalkvfeaeq fgcpqraqrm
      241 ntaftpflhq rngnaarslt sltsddnlwa clhtsfawll kacgsrltek llegaptedt
      301 lvqmekladl eeeseswdns eaeeeekapv lpestegrel tqgpaesssl sgcgswqprk
      361 lpvfkslrhm rqvlgapsfr mlawhvlmgn qviwksrdvd lvqsafevlr tmlpvgcvri
      421 ipyssqyeea yrcnflglsp hvqipphvls sefavivevh aaarstlhpv gceddqslsk
      481 yefvvtsgsp vaadrvgpti lnkieaaltn qnlsvdvvdq clvclkeewm nkvkvlfkft
      541 kvdsrpkedt qkllsilgas eednvkllkf wmtglsktyk shlmstvrsp tasesrn
//
LOCUS       XP_054172688             488 aa            linear   PRI 20-MAR-2023
DEFINITION  plexin domain-containing protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054172688
VERSION     XP_054172688.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316713.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..488
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..488
                     /product="plexin domain-containing protein 1 isoform X3"
                     /calculated_mol_wt=54382
     CDS             1..488
                     /gene="PLXDC1"
                     /gene_synonym="TEM3; TEM7"
                     /coded_by="XM_054316713.1:201..1667"
                     /db_xref="GeneID:57125"
                     /db_xref="HGNC:HGNC:20945"
                     /db_xref="MIM:606826"
ORIGIN      
        1 mrgelwllvl vlreaarals pqpgaghdeg pgsgwaakgt vrgwnrrare spghvsepdr
       61 tqlsqdlggg tlamdtlpdn rtrvvednhs yyvsrlygps ephsrelwvd vaeanrsqvk
      121 ihtilsnthr qasrvvlsfd fpfyghplrq itiatggfif mgdvihrmlt atqyvaplma
      181 nfnpgysdns tvvyfdngtv fvvqwdhvyl qgwedkgsft fqaalhhdgr ivfaykeipm
      241 svpeisssqh pvktglsdaf milnpspdvp esrrrsifey hrieldpskv tsmsaveftp
      301 lptclqhrsc dacmssdltf ncswchvlqr cssgfdryrq ewmdygcaqe aegrmcedfq
      361 dedhdsaspd tsfspydgdl tttssslfid sltteglqnn lspktkgtpv hlgtivgivl
      421 avllvaaiil agiyinghpt snaalffier rphhwpamkf rshpdhstya evepsgheke
      481 gfmeaeqc
//
LOCUS       XP_054173830             152 aa            linear   PRI 20-MAR-2023
DEFINITION  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X3
            [Homo sapiens].
ACCESSION   XP_054173830
VERSION     XP_054173830.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317855.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..152
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..152
                     /product="N-acetylglucosaminyl-phosphatidylinositol
                     de-N-acetylase isoform X3"
                     /calculated_mol_wt=16280
     CDS             1..152
                     /gene="PIGL"
                     /gene_synonym="CHIME"
                     /coded_by="XM_054317855.1:65..523"
                     /db_xref="GeneID:9487"
                     /db_xref="HGNC:HGNC:8966"
                     /db_xref="MIM:605947"
ORIGIN      
        1 mqwdtehvar vllqhievng inlvvtfdag gvsghsnhia lyaavralhs egklpkescp
       61 qpsrgsgwgg rhtlpdspqg twqvvstskc lpagppldew ggqvcpstcl afsqggcftp
      121 lvffqselnp ipqpirqvvn dcwvldepic ls
//
LOCUS       XP_054174551            1173 aa            linear   PRI 20-MAR-2023
DEFINITION  probable phospholipid-transporting ATPase IIB isoform X2 [Homo
            sapiens].
ACCESSION   XP_054174551
VERSION     XP_054174551.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318576.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1173
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1173
                     /product="probable phospholipid-transporting ATPase IIB
                     isoform X2"
                     /calculated_mol_wt=132072
     CDS             1..1173
                     /gene="ATP9B"
                     /gene_synonym="ATPASEP; ATPIIB; hMMR1; HUSSY-20; NEO1L"
                     /coded_by="XM_054318576.1:18..3539"
                     /db_xref="GeneID:374868"
                     /db_xref="HGNC:HGNC:13541"
                     /db_xref="MIM:614446"
ORIGIN      
        1 madqiplypv rsaaaaaanr kraayysaag prpgadrhsr yqledesahl demplmmsee
       61 gfeneesdyh tlprarimqr krglewfvcd gwkflctscc gwlinicrrk kelkartvwl
      121 gcpekceekh prnsiknqky nvftfipgvl yeqfkfflnl yflviscsqf vpalkigyly
      181 tywaplgfvl avtmtreaid efrrfqrdke vnsqlysklt vrgkvqvkss diqvgdliiv
      241 eknqripsdm vflrtsekag scfirtdqld getdwklkva vsctqqlpal gdlfsisayv
      301 yaqkpqmdih sfegtftred sdppihesls ientlwasti vasgtvigvv iytgketrsv
      361 mntsnpknkv glldlelnrl tkalflalva lsivmvtlqg fvgpwyrnlf rflllfsyii
      421 pislrvnldm gkavygwmmm kdenipgtvv rtstipeelg rlvylltdkt gtltqnemif
      481 krlhlgtvsy gadtmdeiqs hvrdsysqmq sqaggnntgs tplrkaqssa pkvrksvssr
      541 iheavkaivl chnvtpvyes ragvteetef aeadqdfsde nrtyqasspd evalvqwtes
      601 vgltlvsrdl tsmqlktpsg qvlsfcilql fpftseskrm gvivrdesta eitfymkgad
      661 vamspivqyn dwleeecgnm areglrtlvv akkalteeqy qdfepmqsss vesthstytc
      721 ahrrlplcpq srytqaklsm hdrslkvaav vesleremel lcltgvedql qadvrptlem
      781 lrnagikiwm ltgdkletat ciaksshlvs rtqdihifrq vtsrgeahle lnafrrkhdc
      841 alvisgdsle vclkyyehef velacqcpav vccrcsptqk arivtllqqh tgrrtcaigd
      901 ggndvsmiqa adcgigiegk egkqaslaad fsitqfrhig rllmvhgrns ykrsaalgqf
      961 vmhrgliist mqavfssvfy fasvplyqgf lmvgyatiyt mfpvfslvld qdvkpemaml
     1021 ypelykdltk grslsfktfl iwvlisiyqg gilmygalvl fesefvhvva isftalilte
     1081 llmvaltvrt whwlmvvaef lslgcyvssl aflneyfgig rvsfgafldv afittvtflw
     1141 kvsaitvvsc lplyvlkylr rklsppsyck las
//
LOCUS       XP_054176820              94 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 677 isoform X1 [Homo sapiens].
ACCESSION   XP_054176820
VERSION     XP_054176820.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320845.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..94
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..94
                     /product="zinc finger protein 677 isoform X1"
                     /calculated_mol_wt=10706
     CDS             1..94
                     /gene="ZNF677"
                     /coded_by="XM_054320845.1:167..451"
                     /db_xref="GeneID:342926"
                     /db_xref="HGNC:HGNC:28730"
ORIGIN      
        1 malsqglftf kdvaiefsqe ewecldpaqr alyrdvmlen yrnllslded nippedgnhp
       61 ctslhfslrw ttfgglshgr gflgdrtflk enin
//
LOCUS       XP_054178235            1152 aa            linear   PRI 20-MAR-2023
DEFINITION  A disintegrin and metalloproteinase with thrombospondin motifs 10
            isoform X1 [Homo sapiens].
ACCESSION   XP_054178235
VERSION     XP_054178235.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322260.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1152
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1152
                     /product="A disintegrin and metalloproteinase with
                     thrombospondin motifs 10 isoform X1"
                     /calculated_mol_wt=125947
     CDS             1..1152
                     /gene="ADAMTS10"
                     /gene_synonym="ADAM-TS10; ADAMTS-10; WMS; WMS1"
                     /coded_by="XM_054322260.1:287..3745"
                     /db_xref="GeneID:81794"
                     /db_xref="HGNC:HGNC:13201"
                     /db_xref="MIM:608990"
ORIGIN      
        1 mapacqilrw alalglglmf evthafrsqd eflsslesye iafptrvdhn gallafsppp
       61 prrqrrgtga taesrlfykv aspsthflln ltrssrllag hvsveywtre glawqraarp
      121 hclyaghlqg qassshvais tcgglhgliv adeeeyliep lhggpkgsrs peesgphvvy
      181 krsslrhphl dtacgvrdek pwkgrpwwlr tlkppparpl gnetergqpg lkrsvsrery
      241 vetlvvadkm mvayhgrrdv eqyvlaimni vaklfqdssl gstvnilvtr lilltedqpt
      301 leithhagks ldsfckwqks ivnhsghgna ipengvanhd tavlitrydi ciyknkpcgt
      361 lglapvggmc ererscsvne diglatafti aheightfgm nhdgvgnscg argqdpaklm
      421 aahitmktnp fvwsscsrdy itsfldsglg lclnnrpprq dfvyptvapg qaydadeqcr
      481 fqhgvksrqc kygevcselw clsksnrcit nsipaaegtl cqthtidkgw cykrvcvpfg
      541 srpegvdgaw gpwtpwgdcs rtcgggvsss srhcdsprpt iggkyclger rrhrscntdd
      601 cppgsqdfre vqcsefdsip frgkfykwkt yrgggvkacs ltclaegfnf yteraaavvd
      661 gtpcrpdtvd icvsgeckhv gcdrvlgsdl redkcrvcgg dgsacetieg vfspaspgag
      721 yedvvwipkg svhifiqdln lslshlalkg dqeslllegl pgtpqphrlp lagttfqlrq
      781 gpdqvqslea lgpinasliv mvlartelpa lryrfnapia rdslppyswh yapwtkcsaq
      841 caggsqvqav ecrnqldssa vaphycsahs klpkrqracn tepcppdwvv gnwslcsrsc
      901 dagvrsrsvv cqrrvsaaee kalddsacpq prppvleach gptcppewaa ldwsevsrpl
      961 psrplgcpgg vstetplrgl qvscplltsh wgstlstkrp fqlqctpscg pglrhrvvlc
     1021 ksadhratlp pahcspaakp patmrcnlrr cpparwvage wgecsaqcgv gqrqrsvrct
     1081 shtgqashec tealrppttq qceakcdspt pgdgpeeckd vnkvaycplv lkfqfcsray
     1141 frqmccktcq gh
//
LOCUS       XP_054178532             946 aa            linear   PRI 20-MAR-2023
DEFINITION  dipeptidyl peptidase 9 isoform X1 [Homo sapiens].
ACCESSION   XP_054178532
VERSION     XP_054178532.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322557.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..946
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..946
                     /product="dipeptidyl peptidase 9 isoform X1"
                     /calculated_mol_wt=107441
     CDS             1..946
                     /gene="DPP9"
                     /gene_synonym="DP9; DPLP9; DPP IX; DPRP-2; DPRP2"
                     /coded_by="XM_054322557.1:258..3098"
                     /db_xref="GeneID:91039"
                     /db_xref="HGNC:HGNC:18648"
                     /db_xref="MIM:608258"
ORIGIN      
        1 mrkvkklrld kentgswrsp ccplprvfpl ppskqrlpqa kllvpedras gkalelpvka
       61 khlpgwtasq qhsfslnseg aermattgtp tadrgdaaat ddpaarfqvq khswdglrsi
      121 ihgsrkysgl ivnkaphdfq fvqktdesgp hshrlyylgm pygsrensll yseipkkvrk
      181 eallllswkq mldhfqatph hgvysreeel lrerkrlgvf gitsydfhse sglflfqasn
      241 slfhcrdggk ngfmvspmkp leiktqcsgp rmdpkicpad paffsfinns dlwvanietg
      301 eerrltfchq glsnvlddpk sagvatfviq eefdrftgyw wcptaswegs eglktlrily
      361 eevdesevev ihvpspalee rktdsyrypr tgsknpkial klaefqtdsq gkivstqeke
      421 lvqpfsslfp kveyiaragw trdgkyawam fldrpqqwlq lvllppalfi psteneeqrl
      481 asaravprnv qpyvvyeevt nvwinvhdif ypfpqseged elcflranec ktgfchlykv
      541 tavlksqgyd wsepfspged efkcpikeei altsgewevl arhgskiwvn eetklvyfqg
      601 tkdtplehhl yvvsyeaage ivrlttpgfs hscsmsqnfd mfvshyssvs tppcvhvykl
      661 sgpdddplhk qprfwasmme aascppdyvp peifhfhtrs dvrlygmiyk phalqpgkkh
      721 ptvlfvyggp qvqlvnnsfk gikylrlntl aslgyavvvi dgrgscqrgl rfegalknqm
      781 gqveiedqve glqfvaekyg fidlsrvaih gwsyggflsl mglihkpqvf kvaiagapvt
      841 vwmaydtgyt erymdvpenn qhgyeagsva lhveklpnep nrllilhgfl denvhffhtn
      901 flvsqlirag kpyqlqiypn erhsircpes gehyevtllh flqeyl
//
LOCUS       XP_054196309            1077 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase 11-interacting protein isoform X7
            [Homo sapiens].
ACCESSION   XP_054196309
VERSION     XP_054196309.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340334.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1077
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1077
                     /product="serine/threonine-protein kinase 11-interacting
                     protein isoform X7"
                     /calculated_mol_wt=118555
     CDS             1..1077
                     /gene="STK11IP"
                     /gene_synonym="LIP1; LKB1IP; STK11IP1"
                     /coded_by="XM_054340334.1:61..3294"
                     /db_xref="GeneID:114790"
                     /db_xref="HGNC:HGNC:19184"
                     /db_xref="MIM:607172"
ORIGIN      
        1 mfgsapqrpv amttaqrdsl lwklagllre sgdvvlsgcs tlslltptlq qlnhvfelhl
       61 gpwgpgqtgf valpshpads pvilqlqflf dvlqktlslk lvhvagpgpt gpikifpfks
      121 lrhlelrgvp lhclhglrgi ysqletlics rslqaleell sacggdfcsa lpwlallsan
      181 fsynaltald sslrllsalr flnlshnqvq dcqgflmdlc elhhldisyn rlhlvprmgp
      241 sgaalgvlil rgnelrslhg leqlrnlrhl dlaynllegh relsplwlla elrklylegn
      301 plwfhpehra ataqylspra rdaatgflld gkvlsltdfq thtslglspm gpplpwpvgs
      361 tpetsggpdl sdslssggvv tqpllhkvks rvrvrrasis epsdtdpepr tlnpspagwf
      421 vqqhpelelm ssfrerfgrn wlqyrshlep sgnplpatpt tsapsappas sqgpdtaprp
      481 sppqeeargp qespqkmsee vraepqeeee ekegkeekee gemveqgeee ageeeeeeqd
      541 qkeveaelcr pllvcplegp egirgrecfl rvtsahlfev elqaartler lelqsleaae
      601 iepeaqaqrs prptgsdllp gapilslrfs yicpdrqlrr ylvlepdaha avqellavlt
      661 pvtnvareql geardlllgr fqclrcghef kpeeprmgld seegwrplfq ktespavcpn
      721 cgsdhvvlla vsrgtpnrer kqgeqslaps pfaspvchpp ghgdhldrak nsppqapstr
      781 dhgswslspp percglrsvd hrlrlfldve vfsdaqeefq cclkvpvala ghtgefmclv
      841 vvsdrrlyll kvtgemrepp aswlqltlav plqdlsgiel glagqslrle waagagrcvl
      901 lprdarhcra fleelldvlq slppawrncv sateeevtpq hrlwpllekd sslearqffy
      961 lraflvegps tclvsllltp stlflldeda agspaepspp aasgeasekv ppsgpgpavr
     1021 vreqqplssl ssvllyrsap edlrllfyde vrklrlgdvn qfaqskvvep giestvp
//
LOCUS       XP_054196844             259 aa            linear   PRI 20-MAR-2023
DEFINITION  UBX domain-containing protein 2A isoform X1 [Homo sapiens].
ACCESSION   XP_054196844
VERSION     XP_054196844.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340869.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..259
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..259
                     /product="UBX domain-containing protein 2A isoform X1"
                     /calculated_mol_wt=29147
     CDS             1..259
                     /gene="UBXN2A"
                     /gene_synonym="UBXD4"
                     /coded_by="XM_054340869.1:137..916"
                     /db_xref="GeneID:165324"
                     /db_xref="HGNC:HGNC:27265"
ORIGIN      
        1 mkdvdnlksi keewvcetgs dnqplgnnqq snceyfvdsl feeaqkvssk cvspaeqkkq
       61 vdvniklwkn gftvnddfrs ysdgasqqfl nsikkgelps elqgifdkee vdvkvedkkn
      121 eiclstkpvf qpfsgqghrl gsatpkivsk aknievenkn nlsavplnnl epitniqiwl
      181 angkrivqkf nithrvshik dfiekyqgsq rsppfslata lpvlrlldet ltleeadlqn
      241 aviiqrlqkt asfrelseh
//
LOCUS       XP_054196856             475 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-dependent RNA helicase DQX1 isoform X2 [Homo sapiens].
ACCESSION   XP_054196856
VERSION     XP_054196856.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340881.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..475
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..475
                     /product="ATP-dependent RNA helicase DQX1 isoform X2"
                     /calculated_mol_wt=52850
     CDS             1..475
                     /gene="DQX1"
                     /coded_by="XM_054340881.1:180..1607"
                     /db_xref="GeneID:165545"
                     /db_xref="HGNC:HGNC:20410"
ORIGIN      
        1 mgmgamplrn srvavftlrw gprekledfr eislccesls reveslllqg lpprvlplhp
       61 dcgravqavy edmdarkvvv thwladfsfs lpsiqhvids glelrsvynp riraefqvlr
      121 piskcqaear rlrargfppg sclclypksf leleapplpq prvceenlss lvlllkrrqi
      181 aepgechfld qpapealmqa ledldylaal dddgdlsdlg vilsefplap elakallasc
      241 efdcvdemlt laamltaapg ftrpplsaee aalrraleht dgdhssliqv yeafiqsgad
      301 eawcqargln waalcqahkl rgellelmqr ielplslpaf gseqnrrdlq kalvsgyflk
      361 vardtdgtgn ylllthkhva qlssyccyrs rraparpppw vlyhnftisk dnclsivsei
      421 qpqmlvelap pyflsnlpps esrdllnqlr egmadstags ksssaqefrd pcvlq
//
LOCUS       XP_054199502             212 aa            linear   PRI 20-MAR-2023
DEFINITION  bcl-2-related ovarian killer protein isoform X1 [Homo sapiens].
ACCESSION   XP_054199502
VERSION     XP_054199502.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343527.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..212
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..212
                     /product="bcl-2-related ovarian killer protein isoform X1"
                     /calculated_mol_wt=23149
     CDS             1..212
                     /gene="BOK"
                     /gene_synonym="BCL2L9; BOKL"
                     /coded_by="XM_054343527.1:149..787"
                     /db_xref="GeneID:666"
                     /db_xref="HGNC:HGNC:1087"
                     /db_xref="MIM:605404"
ORIGIN      
        1 mevlrrssvf aaeimdafdr sptdkelvaq akalgreyvh arllraglsw saperaapvp
       61 grlaevcavl lrlgdelemi rpsvyrnvar qlhislqsep vvtdaflava ghifsagitw
      121 gkvvslyava aglavdcvrq aqpamvhalv dclgefvrkt latwlrrrgg wtdvlkcvvs
      181 tdpglrshwl vaalcsfgrf lkaaffvllp er
//
LOCUS       XP_054181102             105 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C22orf15 isoform X6 [Homo sapiens].
ACCESSION   XP_054181102
VERSION     XP_054181102.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325127.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 8% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..105
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..105
                     /product="uncharacterized protein C22orf15 isoform X6"
                     /calculated_mol_wt=11137
     CDS             1..105
                     /gene="C22orf15"
                     /gene_synonym="N27C7-3"
                     /coded_by="XM_054325127.1:318..635"
                     /db_xref="GeneID:150248"
                     /db_xref="HGNC:HGNC:15558"
ORIGIN      
        1 mfikvmfgag csvlvntscr lvnltahlrq kaglppdvsl hvlpatiall aedgnlvsle
       61 edlkegasra qtmgnsllke raiyvlvrii skvaqgslpc sygrm
//
LOCUS       XP_054202802             493 aa            linear   PRI 20-MAR-2023
DEFINITION  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 isoform X1
            [Homo sapiens].
ACCESSION   XP_054202802
VERSION     XP_054202802.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346827.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..493
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..493
                     /product="6-phosphofructo-2-kinase/fructose-2,
                     6-bisphosphatase 4 isoform X1"
                     /calculated_mol_wt=56487
     CDS             1..493
                     /gene="PFKFB4"
                     /coded_by="XM_054346827.1:88..1569"
                     /db_xref="GeneID:5210"
                     /db_xref="HGNC:HGNC:8875"
                     /db_xref="MIM:605320"
ORIGIN      
        1 mggplctlas avnfqrwasf ptggrvplgl kaelgqelqq rcaqdrdrkv crvglclcpg
       61 tlcmtncptl ivmvglparg ktyiskkltr ylnwigvptr efnvgqyrrd vvktyksfef
      121 flpdneeglk irkqcalaal rdvrrflsee gghvavfdat nttrerrati fnfgeqngyk
      181 tffvesicvd peviaanivq vklgspdyvn rdsdeatedf mrriecyens yesldedldr
      241 dlsyikimdv gqsyvvnrva dhiqsrivyy lmnihvtprs iylcrhgese lnlkgriggd
      301 pglsprgref akslaqfisd qnikdlkvwt sqmkrtiqta ealgvpyeqw kvlneidagv
      361 ceemtyeeiq dnyplefalr dqdkyryryp kgesyedlvq rlepvimele rqenvlvich
      421 qavmrcllay fldkaaeqlp ylkcplhtvl kltpvaygck vesiflnvaa vnthrdrpqg
      481 slwsrvlrlw llq
//
LOCUS       XP_054203258             941 aa            linear   PRI 20-MAR-2023
DEFINITION  HMG box transcription factor BBX isoform X3 [Homo sapiens].
ACCESSION   XP_054203258
VERSION     XP_054203258.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347283.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..941
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..941
                     /product="HMG box transcription factor BBX isoform X3"
                     /calculated_mol_wt=104999
     CDS             1..941
                     /gene="BBX"
                     /gene_synonym="ARTC1; HBP2; HSPC339; MDS001"
                     /coded_by="XM_054347283.1:376..3201"
                     /db_xref="GeneID:56987"
                     /db_xref="HGNC:HGNC:14422"
ORIGIN      
        1 mkgsnrnkdh saegegvgkr pkrkclqwhp llakklldfs eeeeeedeee didkvqllga
       61 dgleqdvget eddespeqra rrpmnafllf ckrhrslvrq ehprldnrga tkiladwwav
      121 ldpkekqkyt dmakeykdaf mkanpgykwc pttnkpvksp tptvnprkkl wafpsdssrd
      181 lpspkkakte empqlnfgma dptqmgglsm lllagehalg tpevssgtcr pdvsespelr
      241 qksplfqfae issstshsda stkqcqtsal fqfaeissnt sqlggaepvk rcgksalfql
      301 aemclasegm kmeesklika kesdggrike lekgkeekei kmektdetrl qkeaefeksa
      361 kenlrdskel rnfealqidd imaikmedpk eirkeeleed hkcshfpdfs ysasskiiis
      421 dvpsrkdhmc hphgimiied paalnkpekl kkkkkkskmd rhgndkstpk ktckkrqsse
      481 sdiesviyti eavakgdwgi eklgdtprkk vrtsssgkgs ildakppkkk vksrekkmsk
      541 ekssdttkes rppdfisisa sknisgetpe gikaepltpm edalppslsg qakpedsdch
      601 rkietcgsrk sersckgaly ktlvsegmlt slranvdrgk rssgkgnssd hegcwneesw
      661 tfsqsgtsgs kkfkktkpke dcllgsakld eefekkfnsl pqyspvtfdr kcvpvprkkk
      721 ktgnvssept ktskgpfqsq kknlfhkivs kykhkkekpn vpekgsgdkw snkqlfldai
      781 hpteaifsed rntmepvhkv knipsifntp eptttqeplv gsqkrkarkt kithlvrtad
      841 grvspaggtl ddkpkeqlqr slpkatetdc ndkcshntev getrsstpem pavsaffsla
      901 alaevaamen vhrgqrstpl thdgqpkemp qapvliscad q
//
LOCUS       XP_054204033             714 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054204033
VERSION     XP_054204033.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348058.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..714
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..714
                     /product="ubiquitin carboxyl-terminal hydrolase BAP1
                     isoform X4"
                     /calculated_mol_wt=78605
     CDS             1..714
                     /gene="BAP1"
                     /gene_synonym="HUCEP-13; hucep-6; KURIS; TPDS1; UCHL2;
                     UVM2"
                     /coded_by="XM_054348058.1:131..2275"
                     /db_xref="GeneID:8314"
                     /db_xref="HGNC:HGNC:950"
                     /db_xref="MIM:603089"
ORIGIN      
        1 mnkgwleles dpglftllve dfgvkgvqve eiydlqskcq gpvygfiflf kwieerrsrr
       61 kvstlvddts vidddivnnm ffahqlipns cathallsvl lncssvdlgp tlsrmkdftk
      121 gfspeskgya ignapelaka hnsharpepr hlpekqngls avrtmeafhf vsyvpitgrl
      181 feldglkvyp idhgpwgede ewtdkarrvi meriglatag epyhdirfnl mavvpdrrik
      241 yearlhvlkv nrqtvlealq qlirvtqpel iqthksqesq lpeesksasn ksplvleanr
      301 apaasegnht dgaeeaagsc aqapshsppn kpklvvkppg sslngvhpnp tpivqrlpaf
      361 ldnhnyaksp mqeeedlaag vgrsrvpvrp pqqysddedd yeddeeddvq ntnsalrykg
      421 kgtgkpgals gsadgqlsvl qpntinvlae klkesqkdls iplsiktssg agspavavpt
      481 hsqpsptpsn estdtaseig safnsplrsp irsanptrps spvtshiskv lfgeddsllr
      541 vdcirynrav rdlgpvistg llhlaedgvl splalteggk gsspsirpiq gsqgssspve
      601 kevveatdsr ektgmellal lkcveaeian yeaclkeeve krkkfkiddq rrthnydefi
      661 ctfismlaqe gmlanlveqn isvrrrqgvs igrlhkqrkp drrkrsrpyk akrq
//
LOCUS       XP_054204967             174 aa            linear   PRI 20-MAR-2023
DEFINITION  progestin and adipoQ receptor family member 3 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054204967
VERSION     XP_054204967.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348992.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..174
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..174
                     /product="progestin and adipoQ receptor family member 3
                     isoform X4"
                     /calculated_mol_wt=19812
     CDS             1..174
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /coded_by="XM_054348992.1:406..930"
                     /db_xref="GeneID:152559"
                     /db_xref="HGNC:HGNC:30130"
                     /db_xref="MIM:614577"
ORIGIN      
        1 mlcsvgyhlf schrsektcr rwmaldyagi sigilgcyvs gvfyafycnn ywrqvylitv
       61 lamilavffa qihpnyltqq wqrlrsiifc svsgygvipt lhwvwlnggi gapivqdfap
      121 rvivmymial laflfyiskv peryfpesgt kiqgmsvtsy gippgqnirf edcd
//
LOCUS       XP_054205849             760 aa            linear   PRI 20-MAR-2023
DEFINITION  amyloid beta precursor protein binding family B member 2 isoform X2
            [Homo sapiens].
ACCESSION   XP_054205849
VERSION     XP_054205849.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349874.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..760
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..760
                     /product="amyloid beta precursor protein binding family B
                     member 2 isoform X2"
                     /calculated_mol_wt=83500
     CDS             1..760
                     /gene="APBB2"
                     /gene_synonym="FE65L; FE65L1"
                     /coded_by="XM_054349874.1:555..2837"
                     /db_xref="GeneID:323"
                     /db_xref="HGNC:HGNC:582"
                     /db_xref="MIM:602710"
ORIGIN      
        1 msevlpadsg vdtlavfmas sgttdvtnrn spatppntln lrsshnelln aeikhtetkn
       61 stppkcrkky altniqaamg lsdpaaqpll gngsaniklv kngenqlrka aeqgqqdpnk
      121 nlsptavini tseklegkep hpqdssscei lpsqprrtks flnyyadlet sareleqnqg
      181 nhhgtaeeks qpvqgqasti igngdlllqk pnrpqssped gqvatvsssp etkkdhpktg
      241 aktdcalhri qnlapsdees swttlsqdsa spsspdetdi wsdhsfqtdp dlppgwkrvs
      301 diagtyywhi ptgttqwerp vsipadlqgs rkgslssvtp sptpenekqp wsdfavlngg
      361 kinsdiwkdl haatvnpdps lkefegatlr yaslklrnap hpddddscsi nsdpeakcfa
      421 vrslgwvema eedlapgkss vavnncirql syckndirdt vgiwgegkdm ylilendmls
      481 lvdpmdrsvl hsqpivsirv wgvgrdngre rdfayvardk dtrilkchvf rcdtpakaia
      541 tslheicski maerknakal acsslqeran vnldvplqvd fptpktelvq kfhvqylgml
      601 pvdkpvgmdi lnsaienlmt ssnkedwlsv nmnvadatvt visekneeev lvecrvrfls
      661 fmgvgkdvht fafimdtgnq rfechvfwce pnagnvseav qaacmlryqk clvarppsqk
      721 vrpppppads vtrrvttnvk rgvlslidtl kqkrpvtemp
//
LOCUS       XP_054207917            4272 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein axonemal heavy chain 5 isoform X5 [Homo sapiens].
ACCESSION   XP_054207917
VERSION     XP_054207917.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351942.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4272
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..4272
                     /product="dynein axonemal heavy chain 5 isoform X5"
                     /calculated_mol_wt=487259
     CDS             1..4272
                     /gene="DNAH5"
                     /gene_synonym="CILD3; DNAHC5; HL1; KTGNR; PCD"
                     /coded_by="XM_054351942.1:99..12917"
                     /db_xref="GeneID:1767"
                     /db_xref="HGNC:HGNC:2950"
                     /db_xref="MIM:603335"
ORIGIN      
        1 matagaansr lagrpertpe srrgqgaaaa agsslhrgsa tspsgapqhs amdklqrlke
       61 ekeakralld arhnylfaiv ascldlnkte vedailegnq ieridqlfav gglrhlmfyy
      121 qdveeaetgq lgslggvnlv sgkikkpkvf vtegndvalt gvcvffirtd pskaitpdni
      181 hqevsfnmld aadggllnsv rrllsdifip alratshgwg eleglqdaan irqeflssle
      241 gfvnvlsgaq eslkekvnlr kcdilelktl keptdyltla nnpetlgkie dcmkvwikqt
      301 eqvlaennql lkeaddvgpr aelehwkkrl skfnylleql kspdvkavla vlaaakskll
      361 ktwremdiri tdatneakdn vkylytlekc cdplyssdpl smmdaiptli naikmiysis
      421 hyyntsekit slfvkvtnqi isackayitn ngtasiwnqp qdvveekils aiklkqeyql
      481 cfhktkqklk qnpnakqfdf semyifgkfe tfhrrlakii difttlktys vlqdstiegl
      541 edmatkyqgi vatikkkeyn fldqrkmdfd qdyeefckqt ndlhnelrkf mdvtfakiqn
      601 tnqalrmlkk ferlnipnlg iddkyqlile nygadidmis klytkqkydp plarnqppia
      661 gkilwarqlf hriqqpmqlf qqhpavlsta eakpiirsyn rmakvllefe vlfhrawlrq
      721 ieeihvglea sllvkapgtg elfvnfdpqi lilfretecm aqmglevspl atslfqkrdr
      781 ykrnfsnmkm mlaeyqrvks kipaaieqli vphlakvdea lqpglaaltw tslnieayle
      841 ntfakikdle llldrvndli efridailee msstplcqlp qeepltceef lqmtkdlcvn
      901 gaqilhfkss lveeavnelv nmlldvevls eeesekisne nsvnykness akreegnfdt
      961 ltssinaran alllttvtrk kketemlgee arellshfnh qnmdallkvt rntleairkr
     1021 ihsshtinfr dsnsasnmkq nslpifrasv tlaipnivma paledvqqtl nkaveciisv
     1081 pkgvrqwsse llskkkiqer kmaalqsned sdsdvemgen elqdtleias vnlpipvqtk
     1141 nyyknvsenk eivklvsvls tiinstkkev itsmdcfkry nhiwqkgkee aiktfitqsp
     1201 llsefesqil yfqnleqein aepeyvcvgs ialytadlkf altaetkawm vvigrhcnkk
     1261 yrsemenifm lieefnkkln rpikdlddir iamaalkeir eeqisidfqv gpieesyall
     1321 nryglliare eidkvdtlhy awekllarag evqnklvslq psfkkelisa vevflqdchq
     1381 fyldydlngp masglkpqea sdrlimfqnq fdniyrkyit ytggeelfgl patqypqlle
     1441 ikkqlnllqk iytlynsvie tvnsyydilw sevniekinn ellefqnrcr klpralkdwq
     1501 afldlkkiid dfseccplle ymaskammer hwerittltg hsldvgnesf klrnimeapl
     1561 lkykeeiedi cisavkerdi eqklkqvine wdnktftfgs fktrgelllr gdstseiian
     1621 medslmllgs llsnrynmpf kaqiqkwvqy lsnstdiies wmtvqnlwiy leavfvggdi
     1681 akqlpkeakr fsnidkswvk imtrahevps vvqccvgdet lgqllphlld qleicqkslt
     1741 gylekkrlcf prfffvsdpa lleilgqasd shtiqahlln vfdniksvkf hekiydrils
     1801 issqegetie ldkpvmaegn vevwlnslle esqsslhlvi rqaaaniqet gfqlteflss
     1861 fpaqvgllgi qmiwtrdsee alrnakfdkk imqktnqafl ellntlidvt trdlssterv
     1921 kyetlitihv hqrdifddlc hmhikspmdf ewlkqcrfyf nedsdkmmih itdvafiyqn
     1981 eflgctdrlv itpltdrcyi tlaqalgmsm ggapagpagt gktettkdmg rclgkyvvvf
     2041 ncsdqmdfrg lgrifkglaq sgswgcfdef nridlpvlsv aaqqisiilt ckkehkksfi
     2101 ftdgdnvtmn pefglfltmn pgyagrqelp enlkinfrsv ammvpdrqii irvklascgf
     2161 idnvvlarkf ftlyklceeq lskqvhydfg lrnilsvlrt lgaakranpm dtestivmrv
     2221 lrdmnlskli dedeplflsl iedlfpnill dkagypelea aisrqveeag linhppwklk
     2281 viqlfetqrv rhgmmtlgps gagkttciht lmramtdcgk phremrmnpk aitapqmfgr
     2341 ldvatndwtd gifstlwrkt lrakkgehiw iildgpvdai wienlnsvld dnktltlang
     2401 dripmapnck iifephnidn aspatvsrng mvfmsssild wspilegflk krspqeaeil
     2461 rqlytesfpd lyrfciqnle ykmevleafv itqsinmlqg liplkeqgge vsqahlgrlf
     2521 vfallwsaga aleldgrrrl elwlrsrptg tlelpppagp gdtafdyyva pdgtwthwnt
     2581 rtqeylypsd ttpeygsilv pnvdnvrtdf liqtiakqgk avlligeqgt aktviikgfm
     2641 skydpechmi kslnfssatt plmfqrties yvdkrmgtty gppagkkmtv fiddvnmpii
     2701 newgdqvtne ivrqlmeqng fynlekpgef tsivdiqfla amihpgggrn dipqrlkrqf
     2761 sifnctlpse asvdkifgvi gvghyctqrg fseevrdsvt klvpltrrlw qmtkikmlpt
     2821 pakfhyvfnl rdlsrvwqgm lnttsevike pndllklwkh eckrviadrf tvssdvtwfd
     2881 kalvslveee fgeekklfvd cgidtyfvdf lrdapeaage tseeadaetp kiyepiesfs
     2941 hlkerlnmfl qlynesirga gmdmvffada mvhlvkisrv irtpqgnall vgvggsgkqs
     3001 ltrlasfiag yvsfqitltr syntsnlmed lkvlyrtagq qgkgitfift dneikdesfl
     3061 eymnnvlssg evsnlfarde ideinsdlas vmkkefprcl ptnenlhdyf msrvrqnlhi
     3121 vlcfspvgek frnralkfpa lisgctidwf srwpkdalva vsehfltsyd idcsleikke
     3181 vvqcmgsfqd gvaekcvdyf qrfrrsthvt pksylsfiqg ykfiygekhv evrtlanrmn
     3241 tgleklkeas esvaalskel eakekelqva ndkadmvlke vtmkaqaaek vkaevqkvkd
     3301 raqaivdsis kdkaiaeekl eaakpaleea eaalqtirps diatvrtlgr pphlimrimd
     3361 cvlllfqrkv savkidleks ctmpswqesl klmtagnflq nlqqfpkdti neevieflsp
     3421 yfempdynie takrvcgnva glcswtkama sffsinkevl plkanlvvqe nrhllamqdl
     3481 qkaqaelddk qaeldvvqae yeqamtekqt lledaercrh kmqtastlis glagekerwt
     3541 eqsqefaaqt krlvgdvlla taflsysgpf nqefrdllln dwrkemkark ipfgknlnls
     3601 emlidaptis ewnlqglpnd dlsiqngiiv tkasryplli dpqtqgkiwi knkesrnelq
     3661 itslnhkyfr nhledslslg rplliedvge eldpaldnvl ernfiktgst fkvkvgdkev
     3721 dvldgfrlyi ttklpnpayt peisartsii dftvtmkgle dqllgrvilt ekqelekert
     3781 hlmedvtank rrmkelednl lyrltstqgs lvedeslivv lsntkrtaee vtqkleisae
     3841 tevqinsare eyrpvatrgs ilyflitemr lvnemyqtsl rqflglfdls larsvkspit
     3901 skrianiieh mtyevykyaa rglyeehkfl ftllltlkid iqrnrvkhee fltlikggas
     3961 ldlkacppkp skwilditwl nlvelsklrq fsdvldqisr nekmwkiwfd kenpeeeplp
     4021 naydksldcf rrlllirswc pdrtiaqark yivdsmgeky aegvildlek tweesdprtp
     4081 licllsmgsd ptdsiialgk rlkietryvs mgqgqevhar kllqqtmang gwallqnchl
     4141 gldfmdelmd iiietelvhd afrlwmttea hkqfpitllq msikfandpp qglraglkrt
     4201 ysgvsqdlld vssgsqwkpm lyavaflhst vqerrkfgal gwnipyefnq adfnatvqfi
     4261 qnhlddmdvk ky
//
LOCUS       XP_054208111             653 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 26 isoform X21 [Homo sapiens].
ACCESSION   XP_054208111
VERSION     XP_054208111.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352136.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..653
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..653
                     /product="rho GTPase-activating protein 26 isoform X21"
                     /calculated_mol_wt=74548
     CDS             1..653
                     /gene="ARHGAP26"
                     /gene_synonym="GRAF; GRAF1; OPHN1L; OPHN1L1"
                     /coded_by="XM_054352136.1:104..2065"
                     /db_xref="GeneID:23092"
                     /db_xref="HGNC:HGNC:17073"
                     /db_xref="MIM:605370"
ORIGIN      
        1 meralprgrc lplgkdlssa krkfadslne fkfqcigdae tddemciars lqefatvlrn
       61 lederirmie nasevlitpl ekfrkeqiga akeakkkydk etekycgile khlnlsskkk
      121 esqlqeadsq vdlvrqhfye vsleyvfkvq evqerkmfef vepllaflqg lftfyhhgye
      181 lakdfgdfkt qltisiqntr nrfegtrsev eslmkkmken plehktispy tmegylyvqe
      241 krhfgtswvk hyctyqrdsk qitmvpfdqk sggkggedes vilksctrrk tdsiekrfcf
      301 dveavdrpgv itmqalseed rrlwmeamdg repvynsnkd sqsegtaqld sigfsiirkc
      361 ihavetrgin eqglyrivgv nsrvqkllsv lmdpktaset etdicaewei ktitsalkty
      421 lrmlpgplmm yqfqrsfika aklenqesrv seihslvhrl peknrqmlql lmnhlanvan
      481 nhkqnlmtva nlgvvfgptl lrpqeetvaa imdikfqniv ieilienhek ifntvpdmpl
      541 tnaqlhlsrk kssdskppsc serpltlfht vqstekqeqr nsiinssles vssnpnsiln
      601 sssslqpnmn ssdpdlavvk ptrpnslvha ssassyhvyg mpgycwegsi pct
//
LOCUS       XP_054208341             396 aa            linear   PRI 20-MAR-2023
DEFINITION  hepatitis A virus cellular receptor 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054208341
VERSION     XP_054208341.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352366.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..396
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..396
                     /product="hepatitis A virus cellular receptor 1 isoform
                     X1"
                     /calculated_mol_wt=43295
     CDS             1..396
                     /gene="HAVCR1"
                     /gene_synonym="CD365; HAVCR; HAVCR-1; KIM-1; KIM1; TIM;
                     TIM-1; TIM1; TIMD-1; TIMD1"
                     /coded_by="XM_054352366.1:333..1523"
                     /db_xref="GeneID:26762"
                     /db_xref="HGNC:HGNC:17866"
                     /db_xref="MIM:606518"
ORIGIN      
        1 mhpqvvilsl ilhladsvag svkvggeagp svtlpchysg avtsmcwnrg scslftcqng
       61 ivwtngthvt yrkdtrykll gdlsrrdvsl tientavsds gvyccrvehr gwfndmkitv
      121 sleivppkvt ttpivttvpt vttvrtsttv pttttvpttt vpttmsiptt ttvpttmtvs
      181 tttsvpttts iptttsvpvt tavstfvppm plprqnhepv atspsspqpa ethpttlqga
      241 irreptsspl ysyttdgndt vtessdglwn nnqtqlfleh slltanttkg iyagvcisvl
      301 vllallgvii akmfhlaafk lklckmqlkr kskqktistl rivfmprtkt qwcslrvyah
      361 ecrrlnrhqh irrlldpkti flfqfhlafq hvsdtg
//
LOCUS       XP_054208409             349 aa            linear   PRI 20-MAR-2023
DEFINITION  RELT-like protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054208409
VERSION     XP_054208409.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352434.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..349
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..349
                     /product="RELT-like protein 2 isoform X1"
                     /calculated_mol_wt=37329
     CDS             1..349
                     /gene="RELL2"
                     /gene_synonym="C5orf16"
                     /coded_by="XM_054352434.1:802..1851"
                     /db_xref="GeneID:285613"
                     /db_xref="HGNC:HGNC:26902"
                     /db_xref="MIM:611213"
ORIGIN      
        1 msepqpdlep pqhglymlfl lvlvfflmgl vgfmichvlk kkgyrcrtsr gsepddaqlq
       61 ppedddmned tverivrcii qneanaealk emlgdsegeg tvqlssvdat sslqdgapsh
      121 hhtvhlgsaa pcihcsrskr pplvrqgrsk egksrprtge ttvfsvgrfr vthiekrygl
      181 hehrdgsptd rswgsgggqd pgggqgsggg qpkagmpame rlpperpqpq vlasppvqng
      241 glrdssltpr alegnprasa eptlraggrg pspglptqea ngqpskpdts dhqvgkhsrh
      301 ctglgsycsl lwgaligptp glslltppls lrclyhreqg vcevslpep
//
LOCUS       XP_054211101             814 aa            linear   PRI 20-MAR-2023
DEFINITION  arginine/serine-rich protein PNISR isoform X1 [Homo sapiens].
ACCESSION   XP_054211101
VERSION     XP_054211101.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355126.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..814
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..814
                     /product="arginine/serine-rich protein PNISR isoform X1"
                     /calculated_mol_wt=93526
     CDS             1..814
                     /gene="PNISR"
                     /gene_synonym="bA98I9.2; C6orf111; HSPC306; SFRS18;
                     SRrp130"
                     /coded_by="XM_054355126.1:122..2566"
                     /db_xref="GeneID:25957"
                     /db_xref="HGNC:HGNC:21222"
                     /db_xref="MIM:616653"
ORIGIN      
        1 mwdqggqpwq qwplnqqqwm qsfqhqqdps qidwaalaqa wiaqreasgq qsmveqppgm
       61 mpngqdmstm esgpnnhgnf qgdsnfnrmw qpewgmhqqp phpppdqpwm pptpgpmdiv
      121 ppsedsnsqd sgefapdnrh ifnqnnhnfg gppdnfavgp vnqfdyqhga afgppqggfh
      181 ppywqpgppg ppappqnrre rpssfrdrqr spialpvkqe ppqidavkrr tlpawiregl
      241 ekmerekqkk lekermeqqr sqlskkekka tedaeggdgp rlpqrskfds deeeedtenv
      301 eaassgkvtr spspvpqeeh sdpemteeek eyqmmlltkm llteilldvt deeiyyvakd
      361 ahrkatkapa kqlaqssala sltglgglgg ygsgdseder sdrgsessdt ddeelrhrir
      421 qkqeafwrke keqqllhdkq meeekqqter vtkemnefih keqnslslle areadgdvvn
      481 ekkrtpnett svlepkkehk ekekqgrsrs gssssgssss nsrtsstsst vssssyssss
      541 gssrtssrss spkrkkrhsr srsptikarr srsrsysrri kiesnrarvk irdrrrsnrn
      601 siererrrnr spsrerrrsr srsrdrrtnr asrsrsrdrr kiddqrgnls gnshkhkgea
      661 keqerkkers rsidkdrkkk dkerereqdk rkekqkreek dfkfssqddr lkrkresert
      721 fsrsgsisvk iirhdsrqds kksttkdskk hsgsdssgrs ssespgsske kkakkpkhsr
      781 srsveksqrs gkkasrkhks ksrsrsttpp rrkr
//
LOCUS       XP_054211387             108 aa            linear   PRI 20-MAR-2023
DEFINITION  proteasome assembly chaperone 4 isoform X2 [Homo sapiens].
ACCESSION   XP_054211387
VERSION     XP_054211387.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355412.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..108
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..108
                     /product="proteasome assembly chaperone 4 isoform X2"
                     /calculated_mol_wt=11524
     CDS             1..108
                     /gene="PSMG4"
                     /gene_synonym="bA506K6.2; C6orf86; PAC4"
                     /coded_by="XM_054355412.1:77..403"
                     /db_xref="GeneID:389362"
                     /db_xref="HGNC:HGNC:21108"
                     /db_xref="MIM:617550"
ORIGIN      
        1 meglvvaagg dvslhnfsar lweqlvhfhv mrltdslflw vgatphlrnl avamcsryds
       61 ipvstsllgd tsdttstgla qrlgrtvltq cdtvqgsegr lawpvsva
//
LOCUS       XP_054211601             499 aa            linear   PRI 20-MAR-2023
DEFINITION  PHD finger protein 1 isoform X18 [Homo sapiens].
ACCESSION   XP_054211601
VERSION     XP_054211601.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355626.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..499
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..499
                     /product="PHD finger protein 1 isoform X18"
                     /calculated_mol_wt=55000
     CDS             1..499
                     /gene="PHF1"
                     /gene_synonym="hPHF1; MTF2L2; PCL1; PHF2; TDRD19C"
                     /coded_by="XM_054355626.1:219..1718"
                     /db_xref="GeneID:5252"
                     /db_xref="HGNC:HGNC:8919"
                     /db_xref="MIM:602881"
ORIGIN      
        1 maqpprlsrs gasslwdpas paptsgprpr lwegqdvlar wtdgllylgt ikkvdsarev
       61 clvqfeddsq flvlwkdisp aalpgeellc cvcrsetvvp gnrlvscekc rhayhqdchv
      121 prapapgege gtswvcrqcv faiatkrgga lkkgpyaram lgmklslpyg lkgldwdagh
      181 lsnrqqsycy cggpgewnlk mlqcrsclqw fheactqcls kpllygdrfy efeccvcrgg
      241 pekvrrlqlr wvdvahlvly hlsvcckkky fdfdreilpf tsenwdslll gelsdtpkge
      301 rssrllsaln shkdrfisgr eikkrkclfg lharmpppve pptgdgalts fpsgqgpggg
      361 vsrplgkrrr pepeplrrrq kgkveelgpp savrnqpepq eqrerahlqr alqsfapssr
      421 pqclhhppal trvtraaaat tsgpqmpaac paapsgcllp stllpapqgp lgtvdpqtgh
      481 pwnftlvspq tslkvpptr
//
LOCUS       XP_054213381             664 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 800 isoform X3 [Homo sapiens].
ACCESSION   XP_054213381
VERSION     XP_054213381.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357406.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..664
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..664
                     /product="zinc finger protein 800 isoform X3"
                     /calculated_mol_wt=75105
     CDS             1..664
                     /gene="ZNF800"
                     /coded_by="XM_054357406.1:2706..4700"
                     /db_xref="GeneID:168850"
                     /db_xref="HGNC:HGNC:27267"
ORIGIN      
        1 mplrdkycqt dhhhhgccep vyilepgdpp llqqplqtsk sgiqqiiecf rsgtkqlkhi
       61 llkdvdtife cklcrslfrg lpnlithkkf ycppslqmdd nlpdvndkqs qaindlleai
      121 ypsvdkreyi iklepietnq navfqyisrt dnpievtess stpeqtevqi qetsteqskt
      181 vpvtdtevet vepppveivt devaptsdeq pqesqadlet sdnsdfghql icclcrkefn
      241 srrgvrrhir kvhkkkmeel kkyietrknp nqsskgrskn vlvplsrscp vccksfatka
      301 nvrrhfdevh rglrrdsitp diatkpgqpl fldsispkks fktrkqksss kaeynltack
      361 cllckrkyss qimlkrhmqi vhkitlsgtn skrekgpnnt ansseikvkv epadsvessp
      421 psithspqne lkgtnhsnek kntpaaqknk vkqdsespks tspsaaggqq ktrkpklsag
      481 fdfkqlyckl ckrqftskqn ltkhielhtd gnniyvkfyk cplctyetrr krdvirhitv
      541 vhkkssrylg kitasleira ikkpidfvln kvakrgpsrd eakhsdskhd gtsnspskky
      601 evadvgievk vtknfslhrc nkcgkafakk tylehhkkth kanasnspeg nktkgrstrs
      661 kalv
//
LOCUS       XP_054214762             342 aa            linear   PRI 20-MAR-2023
DEFINITION  homocysteine-responsive endoplasmic reticulum-resident
            ubiquitin-like domain member 2 protein isoform X2 [Homo sapiens].
ACCESSION   XP_054214762
VERSION     XP_054214762.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358787.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..342
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..342
                     /product="homocysteine-responsive endoplasmic
                     reticulum-resident ubiquitin-like domain member 2 protein
                     isoform X2"
                     /calculated_mol_wt=37774
     CDS             1..342
                     /gene="HERPUD2"
                     /coded_by="XM_054358787.1:634..1662"
                     /db_xref="GeneID:64224"
                     /db_xref="HGNC:HGNC:21915"
ORIGIN      
        1 mdqsgmeipv tliikapnqk ysdqtiscfl nwtvgklkth lsnvypskps sdhsgsttps
       61 sgqetlslav gssseglrqr tlpqaqtdqa qshqfpyvmq gnvdnqfpgq aappgfpvyp
      121 afsplqmlww qqmyahqyym qyqaavsaqa tsnvnptqpt tsqplnlahv pgeepppapn
      181 lvaqenrpmn envqmnaqgg pvlneedfnr dwldwmytfs raaillsivy fyssfsrfim
      241 vmgamllvyl hqagwfpfrq egghqqapnn naevnndgqn annleleeme rlmddglede
      301 sgedggedas aiqrpglmas awsfittfft slipegppqv an
//
LOCUS       XP_054215523            1533 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor coactivator 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054215523
VERSION     XP_054215523.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359548.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1533
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1533
                     /product="nuclear receptor coactivator 2 isoform X1"
                     /calculated_mol_wt=166063
     CDS             1..1533
                     /gene="NCOA2"
                     /gene_synonym="bHLHe75; GRIP1; KAT13C; NCoA-2; SRC2; TIF2"
                     /coded_by="XM_054359548.1:269..4870"
                     /db_xref="GeneID:10499"
                     /db_xref="HGNC:HGNC:7669"
                     /db_xref="MIM:601993"
ORIGIN      
        1 msgmgentsd psraetrkrk ecpdqlgpsp krntekrnre qenkyieela elifanfndi
       61 dnfnfkpdkc ailketvkqi rqikeqekaa aanidevqks dvsstgqgvi dkdalgpmml
      121 ealdgfffvv nlegnvvfvs envtqylryn qeelmnksvy silhvgdhte fvknllpksi
      181 vnggswsgep prrnshtfnc rmlvkplpds eeeghdnqea hqkyetmqcf avsqpksike
      241 egedlqscli cvarrvpmke rpvlpssesf ttrqdlqgki tsldtstmra amkpgwedlv
      301 rrciqkfhaq hegesvsyak rhhhevlrqg lafsqiyrfs lsdgtlvaaq tksklirsqt
      361 tnepqlvisl hmlhreqnvc vmnpdltgqt mgkplnpiss nspahqalcs gnpgqdmtls
      421 sninfpingp keqmgmpmgr fggsggmnhv sgmqattpqg snyalkmnsp sqsspgmnpg
      481 qptsmlsprh rmspgvagsp rippsqfspa gslhspvgvc sstgnshsyt nsslnalqal
      541 seghgvslgs slaspdlkmg nlqnspvnmn ppplskmgsl dskdcfglyg epsegttgqa
      601 esschpgeqk etndpnlppa vsseradgqs rlhdskgqtk llqllttksd qmepsplass
      661 lsdtnkdstg slpgsgsthg tslkekhkil hrllqdsssp vdlakltaea tgkdlsqess
      721 stapgsevti kqepvspkkk enallrylld kddtkdiglp eitpklerld sktdpasntk
      781 liamktekee msfepgdqpg seldnleeil ddlqnsqlpq lfpdtrpgap agsvdkqaii
      841 ndlmqltaen spvtpvgaqk talrisqstf nnprpgqlgr llpnqnlpld itlqsptgag
      901 pfppirnssp ysvipqpgmm gnqgmignqg nlgnsstgmi gnsasrptmp sgewapqssa
      961 vrvtcaatts amnrpvqggm irnpaasipm rpssqpgqrq tlqsqvmnig pselemnmgg
     1021 pqysqqqapp nqtapwpesi lpidqasfas qnrqpfgssp ddllcphpaa espsdegall
     1081 dqlylalrnf dgleeidral gipelvsqsq avdpeqfssq dsnimleqka pvfpqqyasq
     1141 aqmaqgsysp mqdpnfhtmg qrpsyatlrm qprpglrptg lvqnqpnqlr lqlqhrlqaq
     1201 qnrqplmnqi snvsnvnltl rpgvptqapi naqmlaqrqr eilnqhlrqr qmhqqqqvqq
     1261 rtlmmrgqgl nmtpsmvaps gmpatmsnpr ipqanaqqfp fppnygtglr spppftspfs
     1321 pvspsvgsql lshsslhgsq mnlanqgmig nlggqlgpvr spqvqhstfq alssgisqqp
     1381 dpgftgattp qsplmsprma htqspmmqqs qanpayqaps dingwaqgnm ggnsmfsqqs
     1441 pphfgqqant smysnnmnin vsmatntggm ssmnqmtgqi smtsvtsvpt sglssmgpeq
     1501 vndpalrggn lfpnqlpgmd mikqegdttr kyc
//
LOCUS       XP_054217219             281 aa            linear   PRI 20-MAR-2023
DEFINITION  NIPA-like protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054217219
VERSION     XP_054217219.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361244.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..281
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..281
                     /product="NIPA-like protein 2 isoform X1"
                     /calculated_mol_wt=30685
     CDS             1..281
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /coded_by="XM_054361244.1:99..944"
                     /db_xref="GeneID:79815"
                     /db_xref="HGNC:HGNC:25854"
ORIGIN      
        1 maavapagpg dsasaaldel slnftygapg agngslsgdw yrrnqihlfg vllailgnlv
       61 isislniqky shlqlaqqeh prpyfksvlw wggvllmavg etgnfaaygf apitliaplg
      121 cvsvtgsaii svtflkdnlr asdllgttla fagtyllvnf apnitqaisa rtvqyylvgw
      181 qfliyvkrke grfekpsvyq peknkvhslk qpfpacllqm gnphpcqnak rsgvfkvklg
      241 lhqmetsqvq gpgtfpliwy rkqrkeelhq ptnliqnpfa v
//
LOCUS       XP_054217275             470 aa            linear   PRI 20-MAR-2023
DEFINITION  dendritic cell-specific transmembrane protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_054217275
VERSION     XP_054217275.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361300.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..470
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..470
                     /product="dendritic cell-specific transmembrane protein
                     isoform X1"
                     /calculated_mol_wt=53262
     CDS             1..470
                     /gene="DCSTAMP"
                     /gene_synonym="FIND; hDC-STAMP; TM7SF4"
                     /coded_by="XM_054361300.1:448..1860"
                     /db_xref="GeneID:81501"
                     /db_xref="HGNC:HGNC:18549"
                     /db_xref="MIM:605933"
ORIGIN      
        1 mgiwtsgtdi flslweiyvs prspgwmdfi qhlgvcclva lisvgllsva acwflpsiia
       61 aaaswiitcv llccskharc fillvflscg lregrnalia agtgivilgh venifhnfkg
      121 lldgmtcnlr aksfsihfpl lkkyieaiqw iyglatplsv fddlvswnqt lavslfspsh
      181 vleaqlndsk gevlsvlyqm atttevlssl gqkllafagl slvllgtglf mkrflgpcgw
      241 kyeniyitrq fvqfdererh qqrpcvlpln keerrkyvii ptfwptpker knlglfflpi
      301 lihlciwvlf aavdyllyrl ifsvskqfqs lpgfevhlkl hgekqgtqdi ihdssfnisv
      361 fepncipkpk fllsetwvpl svillilvml gllssilmql kilvsasfyp sverkriqyl
      421 hakllkkrsk qplgevkrrl slyltkihfw lpvlkmirkk qmdmasadks
//
LOCUS       XP_054184241             648 aa            linear   PRI 20-MAR-2023
DEFINITION  neuroligin-4, Y-linked isoform X4 [Homo sapiens].
ACCESSION   XP_054184241
VERSION     XP_054184241.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328266.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060948) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /isolate="NA24385"
                     /bio_material="CORIELL:NA24385"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /sex="male"
                     /tissue_type="B-Lymphocyte"
     Protein         1..648
                     /product="neuroligin-4, Y-linked isoform X4"
                     /calculated_mol_wt=72755
     CDS             1..648
                     /gene="NLGN4Y"
                     /gene_synonym="HNL4Y"
                     /coded_by="XM_054328266.1:114..2060"
                     /db_xref="GeneID:22829"
                     /db_xref="HGNC:HGNC:15529"
                     /db_xref="MIM:400028"
ORIGIN      
        1 mvyihggsym egtgnmidgs ilasygnviv itinyrlgil gflstgdqaa kgnyglldqi
       61 qalrwieenv gafggdpkrv tifgsgagas cvslltlshy seglfqkaii qsgtalsswa
      121 vnyqpakytr iladkvgcnm ldttdmvecl knknykeliq qtitpatyhi afgpvidgdv
      181 ipddpqilme qgeflnydim lgvnqgeglk fvdgivdned gvtpndfdfs vsnfvdnlyg
      241 ypegkdtlre tikfmytdwa dkenpetrrk tlvalftdhq wvapavatad lhaqygspty
      301 fyafyhhcqs emkpswadsa hgdevpyvfg ipmigptelf scnfskndvm lsavvmtywt
      361 nfaktgdpnq pvpqdtkfih tkpnrfeeva wskynpkdql ylhiglkprv rdhyratkva
      421 fwlelvphlh nlneifqyvs tttkvpppdm tsfpygtrrs pakiwpttkr paitpannpk
      481 hskdphktgp edttvlietk rdystelsvt iavgasllfl nilafaalyy kkdkrrheth
      541 rhpspqrntt ndithiqnee imslqmkqle hdheceslqa hdtlrltcpp dytltlrrsp
      601 ddipfmtpnt itmipntlmg mqplhtfktf sggqnstnlp hghsttrv
//
LOCUS       XP_054184380             288 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-specific Y-encoded protein 8-like isoform X3 [Homo sapiens].
ACCESSION   XP_054184380
VERSION     XP_054184380.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328405.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060948) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..288
                     /organism="Homo sapiens"
                     /isolate="NA24385"
                     /bio_material="CORIELL:NA24385"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /sex="male"
                     /tissue_type="B-Lymphocyte"
     Protein         1..288
                     /product="testis-specific Y-encoded protein 8-like isoform
                     X3"
                     /calculated_mol_wt=31755
     CDS             1..288
                     /gene="LOC128966656"
                     /coded_by="XM_054328405.1:15..881"
                     /db_xref="GeneID:128966656"
ORIGIN      
        1 mrpegsltyw vperlrqgfc gvgraaqalv casakegtaf rmeavqegaa gveseqaalg
       61 eeavlllddi maevevvaee eglverreea qraqqavpgp gpmtpesale ellavqvele
      121 pvnaqarkaf srqrekmerr rkpqldrrga viqsvpgfwa nvianhpqms alitdededm
      181 lsymvsleve eekhpvhlck imlffrsnpy fqnkvitkey lvnitgllip lqlsgirimk
      241 wrpiaadttt aaltsstgsl tttsqdltrl lrsyvrtcga ipcnttrg
//
LOCUS       NP_001387413            1609 aa            linear   PRI 23-MAR-2023
DEFINITION  protein polybromo-1 isoform 21 [Homo sapiens].
ACCESSION   NP_001387413
VERSION     NP_001387413.1
DBSOURCE    REFSEQ: accession NM_001400484.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1609)
  AUTHORS   Yamashita N, Morimoto Y, Fushimi A, Ahmad R, Bhattacharya A, Daimon
            T, Haratake N, Inoue Y, Ishikawa S, Yamamoto M, Hata T, Akiyoshi S,
            Hu Q, Liu T, Withers H, Liu S, Shapiro GI, Yoshizumi T, Long MD and
            Kufe D.
  TITLE     MUC1-C Dictates PBRM1-Mediated Chronic Induction of Interferon
            Signaling, DNA Damage Resistance, and Immunosuppression in
            Triple-Negative Breast Cancer
  JOURNAL   Mol Cancer Res 21 (3), 274-289 (2023)
   PUBMED   36445328
  REMARK    GeneRIF: MUC1-C Dictates PBRM1-Mediated Chronic Induction of
            Interferon Signaling, DNA Damage Resistance, and Immunosuppression
            in Triple-Negative Breast Cancer.
REFERENCE   2  (residues 1 to 1609)
  AUTHORS   Walton J, Lawson K, Prinos P, Finelli A, Arrowsmith C and Ailles L.
  TITLE     PBRM1, SETD2 and BAP1 - the trinity of 3p in clear cell renal cell
            carcinoma
  JOURNAL   Nat Rev Urol 20 (2), 96-115 (2023)
   PUBMED   36253570
  REMARK    GeneRIF: PBRM1, SETD2 and BAP1 - the trinity of 3p in clear cell
            renal cell carcinoma.
            Review article
REFERENCE   3  (residues 1 to 1609)
  AUTHORS   Miao XY, Wu H, Ye BC, Yi QW, Lin FN, Wang YL, Ren CL, Jiang YF and
            Li A.
  TITLE     Non-small cell lung cancer carrying PBRM1 mutation suggests an
            immunologically cold phenotype leading to immunotherapy failure
            even with high TMB
  JOURNAL   Sci Rep 12 (1), 20734 (2022)
   PUBMED   36456601
  REMARK    GeneRIF: Nonsmall cell lung cancer carrying PBRM1 mutation suggests
            an immunologically cold phenotype leading to immunotherapy failure
            even with high TMB.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1609)
  AUTHORS   He X, Xu J, Niu N, Xu G, Zhu H, Liu Z, Mou Y, Qian Z, Wang H, Hu J,
            Ma T, Ma J and Tao H.
  TITLE     PBRM1 presents a potential prognostic marker and therapeutic target
            in duodenal papillary carcinoma
  JOURNAL   Clin Transl Med 12 (10), e1062 (2022)
   PUBMED   36178086
  REMARK    GeneRIF: PBRM1 presents a potential prognostic marker and
            therapeutic target in duodenal papillary carcinoma.
REFERENCE   5  (residues 1 to 1609)
  AUTHORS   Zhou Z, Huang D, Yang S, Liang J, Wang X and Rao Q.
  TITLE     Clinicopathological Significance, Related Molecular Changes and
            Tumor Immune Response Analysis of the Abnormal SWI/SNF Complex
            Subunit PBRM1 in Gastric Adenocarcinoma
  JOURNAL   Pathol Oncol Res 28, 1610479 (2022)
   PUBMED   35928964
  REMARK    GeneRIF: Clinicopathological Significance, Related Molecular
            Changes and Tumor Immune Response Analysis of the Abnormal SWI/SNF
            Complex Subunit PBRM1 in Gastric Adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1609)
  AUTHORS   Horikawa I and Barrett JC.
  TITLE     cDNA cloning of the human polybromo-1 gene on chromosome 3p21
  JOURNAL   DNA Seq 13 (4), 211-215 (2002)
   PUBMED   12487023
  REMARK    GeneRIF: cDNA cloning; the hPB1 gene is located on chromosome 3p21,
            where the tumor suppressor genes for breast, lung and kidney
            cancers have been mapped
REFERENCE   7  (residues 1 to 1609)
  AUTHORS   Phelan ML, Sif S, Narlikar GJ and Kingston RE.
  TITLE     Reconstitution of a core chromatin remodeling complex from SWI/SNF
            subunits
  JOURNAL   Mol Cell 3 (2), 247-253 (1999)
   PUBMED   10078207
REFERENCE   8  (residues 1 to 1609)
  AUTHORS   Reyes JC, Muchardt C and Yaniv M.
  TITLE     Components of the human SWI/SNF complex are enriched in active
            chromatin and are associated with the nuclear matrix
  JOURNAL   J Cell Biol 137 (2), 263-274 (1997)
   PUBMED   9128241
REFERENCE   9  (residues 1 to 1609)
  AUTHORS   Wang W, Cote J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C,
            Kalpana GV, Goff SP, Yaniv M, Workman JL and Crabtree GR.
  TITLE     Purification and biochemical heterogeneity of the mammalian SWI-SNF
            complex
  JOURNAL   EMBO J 15 (19), 5370-5382 (1996)
   PUBMED   8895581
REFERENCE   10 (residues 1 to 1609)
  AUTHORS   Wang W, Xue Y, Zhou S, Kuo A, Cairns BR and Crabtree GR.
  TITLE     Diversity and specialization of mammalian SWI/SNF complexes
  JOURNAL   Genes Dev 10 (17), 2117-2130 (1996)
   PUBMED   8804307
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104446.2 and AC112215.3.
            
            Summary: This locus encodes a subunit of ATP-dependent
            chromatin-remodeling complexes. The encoded protein has been
            identified as in integral component of complexes necessary for
            ligand-dependent transcriptional activation by nuclear hormone
            receptors. Mutations at this locus have been associated with
            primary clear cell renal cell carcinoma. [provided by RefSeq, Feb
            2012].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.422672.1,
                                           SRR18074967.1023163.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1609
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.1"
     Protein         1..1609
                     /product="protein polybromo-1 isoform 21"
                     /note="polybromo-1D; BRG1-associated factor 180"
                     /calculated_mol_wt=183912
     Region          44..156
                     /region_name="Bromo_polybromo_I"
                     /note="Bromodomain, polybromo repeat I. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05524"
                     /db_xref="CDD:99954"
     Site            order(76,81,84,123,127,133)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99954"
     Region          182..284
                     /region_name="Bromo_polybromo_II"
                     /note="Bromodomain, polybromo repeat II. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05517"
                     /db_xref="CDD:99948"
     Site            order(212,217,220,259,263,269)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99948"
     Region          383..484
                     /region_name="Bromo_polybromo_III"
                     /note="Bromodomain, polybromo repeat III. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05520"
                     /db_xref="CDD:99951"
     Site            order(412,417,420,459,463,469)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99951"
     Region          519..622
                     /region_name="Bromo_polybromo_IV"
                     /note="Bromodomain, polybromo repeat IV. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05518"
                     /db_xref="CDD:99949"
     Site            order(550,555,558,597,601,607)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99949"
     Region          658..762
                     /region_name="Bromo_polybromo_V"
                     /note="Bromodomain, polybromo repeat V. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05515"
                     /db_xref="CDD:99946"
     Site            order(688,693,696,735,739,745)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99946"
     Region          775..882
                     /region_name="Bromo_polybromo_VI"
                     /note="Bromodomain, polybromo repeat VI. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05526"
                     /db_xref="CDD:99956"
     Site            order(808,809,812,851,855,861)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99956"
     Region          957..1049
                     /region_name="BAH"
                     /note="or Bromo Adjacent Homology domain (also called ELM1
                     and BAM for Bromo Adjacent Motif). BAH domains have first
                     been described as domains found in the polybromo protein
                     and Yeast Rsc1/Rsc2 (Remodeling of the Structure of
                     Chromatin). They also occur in...; cl02608"
                     /db_xref="CDD:413397"
     Region          1130..1248
                     /region_name="BAH_polybromo"
                     /note="BAH, or Bromo Adjacent Homology domain, as present
                     in polybromo and yeast RSC1/2. The human polybromo protein
                     (BAF180) is a component of the SWI/SNF
                     chromatin-remodeling complex PBAF. It is thought that
                     polybromo participates in transcriptional...; cd04717"
                     /db_xref="CDD:240068"
     Region          1355..1410
                     /region_name="HMG-box_PB1"
                     /note="high mobility group (HMG)-box found in protein
                     polybromo-1 (PB1) and similar proteins; cd21984"
                     /db_xref="CDD:438800"
     Site            order(1355..1356,1358..1362,1365..1366,1373,1385..1386,
                     1389,1392..1393,1400,1404,1407)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438800"
     CDS             1..1609
                     /gene="PBRM1"
                     /gene_synonym="BAF180; PB1; RCC; SMARCH1"
                     /coded_by="NM_001400484.1:181..5010"
                     /note="isoform 21 is encoded by transcript variant 41"
                     /db_xref="CCDS:CCDS93285.1"
                     /db_xref="GeneID:55193"
                     /db_xref="HGNC:HGNC:30064"
                     /db_xref="MIM:606083"
ORIGIN      
        1 mgskrrrats psssvsgdfd dghhsvstpg psrkrrrlsn lptvdpiavc helyntirdy
       61 kdeqgrllce lfirapkrrn qpdyyevvsq pidlmkiqqk lkmeeyddvn lltadfqllf
      121 nnaksyykpd speykaackl wdlylrtrne fvqkgeadde dddedgqdnq gtvtegsspa
      181 ylkeileqll eaivvatnps grliselfqk lpskvqypdy yaiikepidl ktiaqriqng
      241 syksihamak didllaknak tynepgsqvf kdansikkif ymkkaeiehh emaksslrmr
      301 tpsnlaaarl tgpshskgsl geernptsky yrnkravqgg rlsaitmalq ygseseedaa
      361 laaaryeege seaesitsfm dvsnpfyqly dtvrscrnnq gqliaepfyh lpskkkypdy
      421 yqqikmpisl qqirtklknq eyetldhlec dlnlmfenak rynvpnsaiy krvlklqqvm
      481 qakkkelarr ddiedgdsmi ssatsdtgsa krkskknirk qrmkilfnvv learepgsgr
      541 rlcdlfmvkp skkdypdyyk iilepmdlki iehnirndky ageegmiedm klmfrnarhy
      601 neegsqvynd ahilekllke krkelgplpd dddmaspklk lsrksgispk kskymtpmqq
      661 klnevyeavk nytdkrgrrl saiflrlpsr selpdyylti kkpmdmekir shmmankyqd
      721 idsmvedfvm mfnnactyne pesliykdal vlhkvlletr rdlegdedsh vpnvtlliqe
      781 lihnlfvsvm shqddegrcy sdslaeipav dpnfpnkppl tfdiirknve nnryrrldlf
      841 qehmfevler arrmnrtdse iyedavelqq ffikirdelc kngeillspa lsyttkhlhn
      901 dvekerkekl pkeieedklk reeekreaek sedssgaagl sglhrtysqd csfknsmyhv
      961 gdyvyvepae anlqphivci erlwedsaek evfksdyynk vpvskilgkc vvmfvkeyfk
     1021 lcpenfrded vfvcesrysa ktksfkkikl wtmpissvrf vprdvplpvv rvasvfanad
     1081 kgddekntdn sedsraednf nlekekedvp vemsngepgc hyfeqlhynd mwlkvgdcvf
     1141 ikshglvrpr vgriekvwvr dgaayfygpi fihpeetehe ptkmfykkev flsnleetcp
     1201 mtcilgkcav lsfkdflscr pteipendil lcesrynesd kqmkkfkglk rfslsakvvd
     1261 deiyyfrkpi vpqkepspll ekkiqlleak faeleggddd ieemgeedse vieppslpql
     1321 qtplaseldl mpytppqstp ksakgsakke gskrkinmsg yilfssemra vikaqhpdys
     1381 fgelsrlvgt ewrnletakk aeyegmmggy ppglpplqgp vdglvsmgsm qplhpggppp
     1441 hhlppgvpgl pgipppgvmn qgvapmvgtp apggspygqq vgvlgppgqq apppypgphp
     1501 agppviqqpt tpmfvapppk tqrllhseay lkyieglsae snsiskwdqt laarrrdvhl
     1561 skeqesrlps hwlkskgaht tmadalwrlr dlmlrdtlni rqaynlenv
//
LOCUS       NP_001394359             434 aa            linear   PRI 24-MAR-2023
DEFINITION  TGF-beta receptor type-1 isoform 7 [Homo sapiens].
ACCESSION   NP_001394359
VERSION     NP_001394359.1
DBSOURCE    REFSEQ: accession NM_001407430.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 434)
  AUTHORS   Starr LJ, Lindsay ME, Lino Cardenas CL and Yetman AT.
  TITLE     Siblings with profound connective tissue disease: First report of
            biallelic TGFBR1-related Loeys-Dietz syndrome
  JOURNAL   Am J Med Genet A 191 (3), 786-793 (2023)
   PUBMED   36584339
  REMARK    GeneRIF: Siblings with profound connective tissue disease: First
            report of biallelic TGFBR1-related Loeys-Dietz syndrome.
REFERENCE   2  (residues 1 to 434)
  AUTHORS   Pang KT, Ghim M, Sarathchandra P, Warboys CM, Yacoub MH, Chester AH
            and Weinberg PD.
  TITLE     Shear-mediated ALK5 expression regulates endothelial activation
  JOURNAL   Biochem Biophys Res Commun 642, 90-96 (2023)
   PUBMED   36566567
  REMARK    GeneRIF: Shear-mediated ALK5 expression regulates endothelial
            activation.
REFERENCE   3  (residues 1 to 434)
  AUTHORS   Frohlich J, Kovacovicova K, Raffaele M, Virglova T, Cizkova E,
            Kucera J, Bienertova-Vasku J, Wabitsch M, Peyrou M, Bonomini F,
            Rezzani R, Chaldakov GN, Tonchev AB, Di Rosa M, Blavet N, Hejret V
            and Vinciguerra M.
  TITLE     GDF11 inhibits adipogenesis and improves mature adipocytes
            metabolic function via WNT/beta-catenin and ALK5/SMAD2/3 pathways
  JOURNAL   Cell Prolif 55 (10), e13310 (2022)
   PUBMED   35920128
  REMARK    GeneRIF: GDF11 inhibits adipogenesis and improves mature adipocytes
            metabolic function via WNT/beta-catenin and ALK5/SMAD2/3 pathways.
REFERENCE   4  (residues 1 to 434)
  AUTHORS   Du Q, Zhang D, Zhuang Y, Xia Q, Wen T and Jia H.
  TITLE     The Molecular Genetics of Marfan Syndrome
  JOURNAL   Int J Med Sci 18 (13), 2752-2766 (2021)
   PUBMED   34220303
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 434)
  AUTHORS   Tzavlaki K and Moustakas A.
  TITLE     TGF-beta Signaling
  JOURNAL   Biomolecules 10 (3), 487 (2020)
   PUBMED   32210029
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 434)
  AUTHORS   Vander Ark A, Cao J and Li X.
  TITLE     TGF-beta receptors: In and beyond TGF-beta signaling
  JOURNAL   Cell Signal 52, 112-120 (2018)
   PUBMED   30184463
  REMARK    Review article
REFERENCE   7  (residues 1 to 434)
  AUTHORS   Loeys,B.L. and Dietz,H.C.
  TITLE     Loeys-Dietz Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301312
REFERENCE   8  (residues 1 to 434)
  AUTHORS   Milewicz,D.M. and Regalado,E.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
REFERENCE   9  (residues 1 to 434)
  AUTHORS   Cheifetz S, Bellon T, Cales C, Vera S, Bernabeu C, Massague J and
            Letarte M.
  TITLE     Endoglin is a component of the transforming growth factor-beta
            receptor system in human endothelial cells
  JOURNAL   J Biol Chem 267 (27), 19027-19030 (1992)
   PUBMED   1326540
REFERENCE   10 (residues 1 to 434)
  AUTHORS   Massague J.
  TITLE     Receptors for the TGF-beta family
  JOURNAL   Cell 69 (7), 1067-1070 (1992)
   PUBMED   1319842
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162427.24.
            
            Summary: The protein encoded by this gene forms a heteromeric
            complex with type II TGF-beta receptors when bound to TGF-beta,
            transducing the TGF-beta signal from the cell surface to the
            cytoplasm. The encoded protein is a serine/threonine protein
            kinase. Mutations in this gene have been associated with
            Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Aug 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.4085987.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.33"
     Protein         1..434
                     /product="TGF-beta receptor type-1 isoform 7"
                     /EC_number="2.7.11.30"
                     /note="activin A receptor type II-like kinase, 53kDa;
                     TGF-beta receptor type-1; activin receptor-like kinase 5;
                     serine/threonine-protein kinase receptor R4; transforming
                     growth factor beta receptor I; transforming growth
                     factor-beta receptor type I; activin A receptor type
                     II-like protein kinase of 53kD; mutant transforming growth
                     factor beta receptor I"
                     /calculated_mol_wt=48745
     Region          <1..41
                     /region_name="Activin_recp"
                     /note="Activin types I and II receptor domain; pfam01064"
                     /db_xref="CDD:426025"
     Region          107..134
                     /region_name="TGF_beta_GS"
                     /note="Transforming growth factor beta type I GS-motif;
                     pfam08515"
                     /db_xref="CDD:430045"
     Region          140..427
                     /region_name="STKc_TGFbR1_ACVR1b_ACVR1c"
                     /note="Catalytic domain of the Serine/Threonine Kinases,
                     Transforming Growth Factor beta Type I Receptor and
                     Activin Type IB/IC Receptors; cd14143"
                     /db_xref="CDD:271045"
     Site            order(142..146,150,161,163,191,211..214,218,220,264,266,
                     268..269,271,282,285,305..308)
                     /site_type="active"
                     /db_xref="CDD:271045"
     Site            order(142..148,150,161,163,211..212,214,218,268..269,271,
                     282)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271045"
     Site            order(146,218,220,264,266,268,285,305..308)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271045"
     Site            order(173..174,177..178,181..182,196,198)
                     /site_type="other"
                     /note="FKBP12 binding site [polypeptide binding]"
                     /db_xref="CDD:271045"
     Site            281..308
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271045"
     CDS             1..434
                     /gene="TGFBR1"
                     /gene_synonym="AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1;
                     LDS1A; LDS2A; MSSE; SKR4; tbetaR-I; TBR-i; TBRI; TGFR-1"
                     /coded_by="NM_001407430.1:239..1543"
                     /note="isoform 7 is encoded by transcript variant 17"
                     /db_xref="GeneID:7046"
                     /db_xref="HGNC:HGNC:11772"
                     /db_xref="MIM:190181"
ORIGIN      
        1 mciaeidlip rdrpfvcaps sktgsvttty ccnqdhcnki elpttvkssp glgpvelaav
       61 iagpvcfvci slmlmvyich nrtvihhrvp needpsldrp fisegttlkd liydmttsgs
      121 gsglpllvqr tiartivlqe sigkgrfgev wrgkwrgeev avkifssree rswfreaeiy
      181 qtvmlrheni lgfiaadnkd ngtwtqlwlv sdyhehgslf dylnrytvtv egmiklalst
      241 asglahlhme ivgtqgkpai ahrdlkskni lvkkngtcci adlglavrhd satdtidiap
      301 nhrvgtkrym apevlddsin mkhfesfkra diyamglvfw eiarrcsigg ihedyqlpyy
      361 dlvpsdpsve emrkvvceqk lrpnipnrwq scealrvmak imrecwyang aarltalrik
      421 ktlsqlsqqe gikm
//
LOCUS       NP_001341913             802 aa            linear   PRI 26-MAR-2023
DEFINITION  fibroblast growth factor receptor 4 isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_001341913 XP_005265895
VERSION     NP_001341913.1
DBSOURCE    REFSEQ: accession NM_001354984.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 802)
  AUTHORS   Chen X, Chen J, Feng W, Huang W, Wang G, Sun M, Luo X, Wang Y, Nie
            Y, Fan D, Wu K and Xia L.
  TITLE     FGF19-mediated ELF4 overexpression promotes colorectal cancer
            metastasis through transactivating FGFR4 and SRC
  JOURNAL   Theranostics 13 (4), 1401-1418 (2023)
   PUBMED   36923538
  REMARK    GeneRIF: FGF19-mediated ELF4 overexpression promotes colorectal
            cancer metastasis through transactivating FGFR4 and SRC.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 802)
  AUTHORS   Moes-Sosnowska J, Skupinska M, Lechowicz U, Szczepulska-Wojcik E,
            Skronska P, Rozy A, Stepniewska A, Langfort R, Rudzinski P,
            Orlowski T, Popiel D, Stanczak A, Wieczorek M and
            Chorostowska-Wynimko J.
  TITLE     FGFR1-4 RNA-Based Gene Alteration and Expression Analysis in
            Squamous Non-Small Cell Lung Cancer
  JOURNAL   Int J Mol Sci 23 (18), 10506 (2022)
   PUBMED   36142417
  REMARK    GeneRIF: FGFR1-4 RNA-Based Gene Alteration and Expression Analysis
            in Squamous Non-Small Cell Lung Cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 802)
  AUTHORS   Zhang X, Soutto M, Chen Z, Bhat N, Zhu S, Eissmann MF, Ernst M, Lu
            H, Peng D, Xu Z and El-Rifai W.
  TITLE     Induction of Fibroblast Growth Factor Receptor 4 by Helicobacter
            pylori via Signal Transducer and Activator of Transcription 3 With
            a Feedforward Activation Loop Involving Steroid Receptor
            Coactivator Signaling in Gastric Cancer
  JOURNAL   Gastroenterology 163 (3), 620-636 (2022)
   PUBMED   35588797
  REMARK    GeneRIF: Induction of Fibroblast Growth Factor Receptor 4 by
            Helicobacter pylori via Signal Transducer and Activator of
            Transcription 3 With a Feedforward Activation Loop Involving
            Steroid Receptor Coactivator Signaling in Gastric Cancer.
REFERENCE   4  (residues 1 to 802)
  AUTHORS   Zou Y, Zheng S, Xie X, Ye F, Hu X, Tian Z, Yan SM, Yang L, Kong Y,
            Tang Y, Tian W, Xie J, Deng X, Zeng Y, Chen ZS, Tang H and Xie X.
  TITLE     N6-methyladenosine regulated FGFR4 attenuates ferroptotic cell
            death in recalcitrant HER2-positive breast cancer
  JOURNAL   Nat Commun 13 (1), 2672 (2022)
   PUBMED   35562334
  REMARK    GeneRIF: N6-methyladenosine regulated FGFR4 attenuates ferroptotic
            cell death in recalcitrant HER2-positive breast cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 802)
  AUTHORS   Alfuaadi IH and Altamemi IA.
  TITLE     IMPACT OF FGFR4 (GLY388ARG) GENE POLYMORPHISM ALONG WITH VISFATIN
            CYTOKINE AND HIGH MOBILITY GROUP BOX-1 (HMGB1) ON ACUTE
            CHOLECYSTITIS
  JOURNAL   Wiad Lek 75 (5 pt 2), 1242-1247 (2022)
   PUBMED   35758438
  REMARK    GeneRIF: IMPACT OF FGFR4 (GLY388ARG) GENE POLYMORPHISM ALONG WITH
            VISFATIN CYTOKINE AND HIGH MOBILITY GROUP BOX-1 (HMGB1) ON ACUTE
            CHOLECYSTITIS.
REFERENCE   6  (residues 1 to 802)
  AUTHORS   Vainikka S, Partanen J, Bellosta P, Coulier F, Birnbaum D, Basilico
            C, Jaye M and Alitalo K.
  TITLE     Fibroblast growth factor receptor-4 shows novel features in genomic
            structure, ligand binding and signal transduction
  JOURNAL   EMBO J 11 (12), 4273-4280 (1992)
   PUBMED   1385111
  REMARK    Erratum:[EMBO J 1993 Feb;12(2):810]
REFERENCE   7  (residues 1 to 802)
  AUTHORS   Warrington JA, Bailey SK, Armstrong E, Aprelikova O, Alitalo K,
            Dolganov GM, Wilcox AS, Sikela JM, Wolfe SF, Lovett M et al.
  TITLE     A radiation hybrid map of 18 growth factor, growth factor receptor,
            hormone receptor, or neurotransmitter receptor genes on the distal
            region of the long arm of chromosome 5
  JOURNAL   Genomics 13 (3), 803-808 (1992)
   PUBMED   1322355
REFERENCE   8  (residues 1 to 802)
  AUTHORS   Armstrong E, Partanen J, Cannizzaro L, Huebner K and Alitalo K.
  TITLE     Localization of the fibroblast growth factor receptor-4 gene to
            chromosome region 5q33-qter
  JOURNAL   Genes Chromosomes Cancer 4 (1), 94-98 (1992)
   PUBMED   1377018
REFERENCE   9  (residues 1 to 802)
  AUTHORS   Holtrich U, Brauninger A, Strebhardt K and Rubsamen-Waigmann H.
  TITLE     Two additional protein-tyrosine kinases expressed in human lung:
            fourth member of the fibroblast growth factor receptor family and
            an intracellular protein-tyrosine kinase
  JOURNAL   Proc Natl Acad Sci U S A 88 (23), 10411-10415 (1991)
   PUBMED   1720539
REFERENCE   10 (residues 1 to 802)
  AUTHORS   Partanen J, Makela TP, Eerola E, Korhonen J, Hirvonen H,
            Claesson-Welsh L and Alitalo K.
  TITLE     FGFR-4, a novel acidic fibroblast growth factor receptor with a
            distinct expression pattern
  JOURNAL   EMBO J 10 (6), 1347-1354 (1991)
   PUBMED   1709094
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC027314.5.
            On Aug 31, 2017 this sequence version replaced XP_005265895.1.
            
            Summary: The protein encoded by this gene is a tyrosine kinase and
            cell surface receptor for fibroblast growth factors. The encoded
            protein is involved in the regulation of several pathways,
            including cell proliferation, cell differentiation, cell migration,
            lipid metabolism, bile acid biosynthesis, vitamin D metabolism,
            glucose uptake, and phosphate homeostasis. This protein consists of
            an extracellular region, composed of three immunoglobulin-like
            domains, a single hydrophobic membrane-spanning segment, and a
            cytoplasmic tyrosine kinase domain. The extracellular portion
            interacts with fibroblast growth factors, setting in motion a
            cascade of downstream signals, ultimately influencing mitogenesis
            and differentiation. [provided by RefSeq, Aug 2017].
            
            Transcript Variant: This variant (5) differs in the 5' UTR compared
            to variant 1. Variants 1, 3, and 5 all encode the same isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.222744.1,
                                           SRR7346977.1442094.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..802
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.2"
     Protein         1..802
                     /product="fibroblast growth factor receptor 4 isoform 1
                     precursor"
                     /EC_number="2.7.10.1"
                     /note="hydroxyaryl-protein kinase; tyrosine kinase related
                     to fibroblast growth factor receptor; protein-tyrosine
                     kinase; tyrosylprotein kinase"
                     /calculated_mol_wt=85814
     sig_peptide     1..21
                     /note="/evidence=ECO:0000269|PubMed:15340161; propagated
                     from UniProtKB/Swiss-Prot (P22455.2)"
                     /calculated_mol_wt=2159
     mat_peptide     22..802
                     /product="Fibroblast growth factor receptor 4.
                     /id=PRO_0000016787"
                     /note="propagated from UniProtKB/Swiss-Prot (P22455.2)"
                     /calculated_mol_wt=85814
     Region          36..104
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          84..88
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          98..103
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            112
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Region          119..148
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P22455.2)"
     Region          147..241
                     /region_name="IgI_2_FGFR"
                     /note="Second immunoglobulin (Ig)-like domain of
                     fibroblast growth factor (FGF) receptor; member of the
                     I-set of IgSF domains; cd05857"
                     /db_xref="CDD:409443"
     Region          147..150
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409443"
     Region          158..163
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409443"
     Site            order(159,161,163)
                     /site_type="other"
                     /note="FGF binding site [polypeptide binding]"
                     /db_xref="CDD:409443"
     Site            order(160,167..169,171)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:409443"
     Region          167..175
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409443"
     Region          181..186
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409443"
     Region          189..191
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409443"
     Region          200..203
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409443"
     Region          207..212
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409443"
     Region          221..228
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409443"
     Region          231..241
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409443"
     Region          249..351
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            258
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Region          267..271
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          280..284
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            290
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Site            311
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Region          316..320
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Site            322
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Region          330..335
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          343..346
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Site            370..390
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P22455.2)"
     Site            390
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, in variant R-388.
                     /evidence=ECO:0000269|PubMed:26675719; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Region          454..767
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(473..476,479,481,501,503,534,550..553,612,616..617,
                     619,629..630)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     Site            573
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Site            642
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:18670643; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Site            643
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:18670643; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Site            754
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:7518429; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     CDS             1..802
                     /gene="FGFR4"
                     /gene_synonym="CD334; JTK2; TKF"
                     /coded_by="NM_001354984.2:158..2566"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 5"
                     /db_xref="CCDS:CCDS4410.1"
                     /db_xref="GeneID:2264"
                     /db_xref="HGNC:HGNC:3691"
                     /db_xref="MIM:134935"
ORIGIN      
        1 mrlllallgv llsvpgppvl sleaseevel epclapsleq qeqeltvalg qpvrlccgra
       61 ergghwykeg srlapagrvr gwrgrleias flpedagryl clargsmivl qnltlitgds
      121 ltssnddedp kshrdpsnrh sypqqapywt hpqrmekklh avpagntvkf rcpaagnptp
      181 tirwlkdgqa fhgenriggi rlrhqhwslv mesvvpsdrg tytclvenav gsirynylld
      241 vlersphrpi lqaglpantt avvgsdvell ckvysdaqph iqwlkhivin gssfgadgfp
      301 yvqvlktadi nssevevlyl rnvsaedage ytclagnsig lsyqsawltv lpeedptwta
      361 aapearytdi ilyasgslal avllllagly rgqalhgrhp rppatvqkls rfplarqfsl
      421 esgssgksss slvrgvrlss sgpallaglv sldlpldplw efprdrlvlg kplgegcfgq
      481 vvraeafgmd parpdqastv avkmlkdnas dkdladlvse mevmkligrh kniinllgvc
      541 tqegplyviv ecaakgnlre flrarrppgp dlspdgprss egplsfpvlv scayqvargm
      601 qylesrkcih rdlaarnvlv tednvmkiad fglargvhhi dyykktsngr lpvkwmapea
      661 lfdrvythqs dvwsfgillw eiftlggspy pgipveelfs llreghrmdr pphcppelyg
      721 lmrecwhaap sqrptfkqlv ealdkvllav seeyldlrlt fgpyspsggd asstcsssds
      781 vfshdplplg sssfpfgsgv qt
//
LOCUS       NP_001340881            1998 aa            linear   PRI 28-MAR-2023
DEFINITION  sodium channel protein type 1 subunit alpha isoform 2 [Homo
            sapiens].
ACCESSION   NP_001340881
VERSION     NP_001340881.1
DBSOURCE    REFSEQ: accession NM_001353952.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1998)
  AUTHORS   Berecki G, Bryson A, Polster T and Petrou S.
  TITLE     Biophysical characterization and modelling of SCN1A
            gain-of-function predicts interneuron hyperexcitability and a
            predisposition to network instability through homeostatic
            plasticity
  JOURNAL   Neurobiol Dis 179, 106059 (2023)
   PUBMED   36868483
  REMARK    GeneRIF: Biophysical characterization and modelling of SCN1A
            gain-of-function predicts interneuron hyperexcitability and a
            predisposition to network instability through homeostatic
            plasticity.
REFERENCE   2  (residues 1 to 1998)
  AUTHORS   Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I,
            Takeuchi T, Itohara S, Yanagawa Y, Obata K, Furuichi T, Hensch TK
            and Yamakawa K.
  TITLE     Nav1.1 localizes to axons of parvalbumin-positive inhibitory
            interneurons: a circuit basis for epileptic seizures in mice
            carrying an Scn1a gene mutation
  JOURNAL   J Neurosci 27 (22), 5903-5914 (2007)
   PUBMED   17537961
  REMARK    GeneRIF: Nav1.1 plays a critical role in the spike output from
            parvalbumin-positive interneurons and contributes to epileptic
            seizures in mice.
REFERENCE   3  (residues 1 to 1998)
  AUTHORS   Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF and
            Harkin LA.
  TITLE     SCN1A mutations and epilepsy
  JOURNAL   Hum Mutat 25 (6), 535-542 (2005)
   PUBMED   15880351
  REMARK    GeneRIF: epilepsy related mutations
            Review article
REFERENCE   4  (residues 1 to 1998)
  AUTHORS   Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada
            K, Iwasa H, Yasumoto S, Matsuo M, Ito M, Mitsudome A and Kaneko S.
  TITLE     Effect of localization of missense mutations in SCN1A on epilepsy
            phenotype severity
  JOURNAL   Neurology 63 (2), 329-334 (2004)
   PUBMED   15277629
  REMARK    GeneRIF: Mutations in the pore regions may produce more severe
            channel dysfunction, including activation/inactivation dysfunction
            or abnormal voltage dependency, than those in other transmembrane
            regions, resulting in a more severe epilepsy phenotype.
            Review article
REFERENCE   5  (residues 1 to 1998)
  AUTHORS   Lossin C, Wang DW, Rhodes TH, Vanoye CG and George AL Jr.
  TITLE     Molecular basis of an inherited epilepsy
  JOURNAL   Neuron 34 (6), 877-884 (2002)
   PUBMED   12086636
  REMARK    GeneRIF: The effects of three mutations in SCN1A have been
            characterized in cultured mammalian cells as a gain-of-function
            abnormality causing prolonged membrane depolarization, a plausible
            underlying biophysical mechanism responsible for inherited
            epilepsy.
REFERENCE   6  (residues 1 to 1998)
  AUTHORS   Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G,
            An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C
            and Malafosse A.
  TITLE     Mutations of SCN1A, encoding a neuronal sodium channel, in two
            families with GEFS+2
  JOURNAL   Nat Genet 24 (4), 343-345 (2000)
   PUBMED   10742094
REFERENCE   7  (residues 1 to 1998)
  AUTHORS   Malo MS, Blanchard BJ, Andresen JM, Srivastava K, Chen XN, Li X,
            Jabs EW, Korenberg JR and Ingram VM.
  TITLE     Localization of a putative human brain sodium channel gene (SCN1A)
            to chromosome band 2q24
  JOURNAL   Cytogenet Cell Genet 67 (3), 178-186 (1994)
   PUBMED   8062593
REFERENCE   8  (residues 1 to 1998)
  AUTHORS   Jen,J.C.
  TITLE     Familial Hemiplegic Migraine
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301562
REFERENCE   9  (residues 1 to 1998)
  AUTHORS   Miller,I.O. and Sotero de Menezes,M.A.
  TITLE     SCN1A Seizure Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301494
REFERENCE   10 (residues 1 to 1998)
  AUTHORS   Lu CM, Han J, Rado TA and Brown GB.
  TITLE     Differential expression of two sodium channel subtypes in human
            brain
  JOURNAL   FEBS Lett 303 (1), 53-58 (1992)
   PUBMED   1317301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010127.12.
            
            Summary: Voltage-dependent sodium channels are heteromeric
            complexes that regulate sodium exchange between intracellular and
            extracellular spaces and are essential for the generation and
            propagation of action potentials in muscle cells and neurons. Each
            sodium channel is composed of a large pore-forming, glycosylated
            alpha subunit and two smaller beta subunits. This gene encodes a
            sodium channel alpha subunit, which has four homologous domains,
            each of which contains six transmembrane regions. Allelic variants
            of this gene are associated with generalized epilepsy with febrile
            seizures and epileptic encephalopathy. Alternative splicing results
            in multiple transcript variants. The RefSeq Project has decided to
            create four representative RefSeq records. Three of the transcript
            variants are supported by experimental evidence and the fourth
            contains alternate 5' untranslated exons, the exact combination of
            which have not been experimentally confirmed for the full-length
            transcript. [provided by RefSeq, Oct 2015].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.144066.1,
                                           SRR1803611.185051.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158569, SAMN03465402
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1998
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.3"
     Protein         1..1998
                     /product="sodium channel protein type 1 subunit alpha
                     isoform 2"
                     /note="sodium channel, voltage-gated, type I, alpha
                     polypeptide; sodium channel protein, brain I alpha
                     subunit; sodium channel protein type 1 subunit alpha;
                     sodium channel, voltage-gated, type I, alpha subunit;
                     sodium channel protein type I subunit alpha; voltage-gated
                     sodium channel subunit alpha Nav1.1; sodium channel
                     voltage gated type 1 alpha subunit"
                     /calculated_mol_wt=227660
     Region          28..60
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          110..454
                     /region_name="I. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          127..433
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Site            129..147
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            155..175
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            190..207
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            211
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            214..230
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            250..269
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            284
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            295
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            301
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            306
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            338
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            400..420
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          455..529
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            470
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04774; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            523
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04774; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            525
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04774; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            550
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04774; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            551
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A2APX8; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Region          555..707
                     /region_name="Na_trans_cytopl"
                     /note="Cytoplasmic domain of voltage-gated Na+ ion
                     channel; pfam11933"
                     /db_xref="CDD:432199"
     Region          584..627
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            607
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04774; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            719
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04774; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Region          739..1011
                     /region_name="II. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          756..969
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Site            758..776
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            788..807
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            822..841
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            844..861
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            878..896
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            960..980
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          995..1202
                     /region_name="Na_trans_assoc"
                     /note="Sodium ion transport-associated; pfam06512"
                     /db_xref="CDD:428983"
     Region          1118..1152
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          1189..1503
                     /region_name="III. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          1206..1481
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Site            1209..1226
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1240..1258
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1273..1291
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1300..1318
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1336..1355
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1367
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            1381
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            1392
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            1447..1468
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          1473..1525
                     /region_name="Na_channel_gate"
                     /note="Inactivation gate of the voltage-gated sodium
                     channel alpha subunits; cd13433"
                     /db_xref="CDD:240441"
     Site            1487..1490
                     /site_type="other"
                     /note="putative hydrophobic latch"
                     /db_xref="CDD:240441"
     Site            1505
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Region          1512..1810
                     /region_name="IV. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          1529..1785
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Site            1532..1549
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          1550..1560
                     /region_name="S1-S2 loop of repeat IV.
                     /evidence=ECO:0000250|UniProtKB:A2APX8"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1561..1579
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1563
                     /site_type="other"
                     /note="Key residue that permits the spider
                     beta/delta-theraphotoxin-Pre1a to inhibit fast
                     inactivation of the channel.
                     /evidence=ECO:0000269|PubMed:28428547; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            1592..1609
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          1608..1625
                     /region_name="S3b-S4 loop of repeat IV.
                     /evidence=ECO:0000250|UniProtKB:A2APX8"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1623..1639
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1659..1676
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1752..1774
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          1975..1998
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     CDS             1..1998
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /coded_by="NM_001353952.2:392..6388"
                     /note="isoform 2 is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS33316.1"
                     /db_xref="GeneID:6323"
                     /db_xref="HGNC:HGNC:10585"
                     /db_xref="MIM:182389"
ORIGIN      
        1 meqtvlvppg pdsfnfftre slaaierria eekaknpkpd kkdddengpk pnsdleagkn
       61 lpfiygdipp emvsepledl dpyyinkktf ivlnkgkaif rfsatsalyi ltpfnplrki
      121 aikilvhslf smlimctilt ncvfmtmsnp pdwtknveyt ftgiytfesl ikiiargfcl
      181 edftflrdpw nwldftvitf ayvtefvdlg nvsalrtfrv lralktisvi pglktivgal
      241 iqsvkklsdv miltvfclsv faliglqlfm gnlrnkciqw pptnasleeh sieknitvny
      301 ngtlinetvf efdwksyiqd sryhyflegf ldallcgnss dagqcpegym cvkagrnpny
      361 gytsfdtfsw aflslfrlmt qdfwenlyql tlraagktym iffvlviflg sfylinlila
      421 vvamayeeqn qatleeaeqk eaefqqmieq lkkqqeaaqq aatatasehs repsaagrls
      481 dssseaskls sksakerrnr rkkrkqkeqs ggeekdedef qksesedsir rkgfrfsieg
      541 nrltyekrys sphqsllsir gslfsprrns rtslfsfrgr akdvgsendf addehstfed
      601 nesrrdslfv prrhgerrns nlsqtsrssr mlavfpangk mhstvdcngv vslvggpsvp
      661 tspvgqllpe gtttetemrk rrsssfhvsm dfledpsqrq ramsiasilt ntveeleesr
      721 qkcppcwykf snifliwdcs pywlkvkhvv nlvvmdpfvd laiticivln tlfmamehyp
      781 mtdhfnnvlt vgnlvftgif taemflkiia mdpyyyfqeg wnifdgfivt lslvelglan
      841 veglsvlrsf rllrvfklak swptlnmlik iignsvgalg nltlvlaiiv fifavvgmql
      901 fgksykdcvc kiasdcqlpr whmndffhsf livfrvlcge wietmwdcme vagqamcltv
      961 fmmvmvignl vvlnlflall lssfsadnla atdddnemnn lqiavdrmhk gvayvkrkiy
     1021 efiqqsfirk qkildeikpl ddlnnkkdsc msnhtaeigk dldylkdvng ttsgigtgss
     1081 vekyiidesd ymsfinnpsl tvtvpiavge sdfenlnted fssesdlees keklnessss
     1141 segstvdiga pveeqpvvep eetlepeacf tegcvqrfkc cqinveegrg kqwwnlrrtc
     1201 frivehnwfe tfivfmills sgalafediy idqrktiktm leyadkvfty ifilemllkw
     1261 vaygyqtyft nawcwldfli vdvslvslta nalgyselga ikslrtlral rplralsrfe
     1321 gmrvvvnall gaipsimnvl lvclifwlif simgvnlfag kfyhcinttt gdrfdiedvn
     1381 nhtdclklie rnetarwknv kvnfdnvgfg ylsllqvatf kgwmdimyaa vdsrnvelqp
     1441 kyeeslymyl yfvifiifgs fftlnlfigv iidnfnqqkk kfggqdifmt eeqkkyynam
     1501 kklgskkpqk piprpgnkfq gmvfdfvtrq vfdisimili clnmvtmmve tddqseyvtt
     1561 ilsrinlvfi vlftgecvlk lislrhyyft igwnifdfvv vilsivgmfl aeliekyfvs
     1621 ptlfrvirla rigrilrlik gakgirtllf almmslpalf niglllflvm fiyaifgmsn
     1681 fayvkrevgi ddmfnfetfg nsmiclfqit tsagwdglla pilnskppdc dpnkvnpgss
     1741 vkgdcgnpsv gifffvsyii isflvvvnmy iavilenfsv ateesaepls eddfemfyev
     1801 wekfdpdatq fmefeklsqf aaalepplnl pqpnklqlia mdlpmvsgdr ihcldilfaf
     1861 tkrvlgesge mdalriqmee rfmasnpskv syqpitttlk rkqeevsavi iqrayrrhll
     1921 krtvkqasft ynknkikgga nllikedmii drinensite ktdltmstaa cppsydrvtk
     1981 pivekheqeg kdekakgk
//
LOCUS       NP_003554                374 aa            linear   PRI 28-MAR-2023
DEFINITION  speckle-type POZ protein [Homo sapiens].
ACCESSION   NP_003554
VERSION     NP_003554.1
DBSOURCE    REFSEQ: accession NM_003563.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 374)
  AUTHORS   Stangl A, Wilner C, Li P, Maahs L, Hwang C and Pilling A.
  TITLE     Molecular features and race-associated outcomes of SPOP-mutant
            metastatic castration-resistant prostate cancer
  JOURNAL   Prostate 83 (6), 524-533 (2023)
   PUBMED   36604824
  REMARK    GeneRIF: Molecular features and race-associated outcomes of
            SPOP-mutant metastatic castration-resistant prostate cancer.
REFERENCE   2  (residues 1 to 374)
  AUTHORS   Sanada S, Maekawa M, Tate S, Nakaoka H, Fujisawa Y, Sayama K and
            Higashiyama S.
  TITLE     SPOP is essential for DNA replication licensing through maintaining
            translation of CDT1 and CDC6 in HaCaT cells
  JOURNAL   Biochem Biophys Res Commun 651, 30-38 (2023)
   PUBMED   36791496
  REMARK    GeneRIF: SPOP is essential for DNA replication licensing through
            maintaining translation of CDT1 and CDC6 in HaCaT cells.
REFERENCE   3  (residues 1 to 374)
  AUTHORS   Zhang H, Jin X and Huang H.
  TITLE     Deregulation of SPOP in Cancer
  JOURNAL   Cancer Res 83 (4), 489-499 (2023)
   PUBMED   36512624
  REMARK    GeneRIF: Deregulation of SPOP in Cancer.
            Review article
REFERENCE   4  (residues 1 to 374)
  AUTHORS   Gao K, Shi Q, Gu Y, Yang W, He Y, Lv Z, Ding Y, Cao W, Wang C and
            Wan X.
  TITLE     SPOP mutations promote tumor immune escape in endometrial cancer
            via the IRF1-PD-L1 axis
  JOURNAL   Cell Death Differ 30 (2), 475-487 (2023)
   PUBMED   36481790
  REMARK    GeneRIF: SPOP mutations promote tumor immune escape in endometrial
            cancer via the IRF1-PD-L1 axis.
REFERENCE   5  (residues 1 to 374)
  AUTHORS   Chen Z, Li Z, Li C, Li B, Wang H, Nong D, Li X, Huang G, Lin J and
            Li W.
  TITLE     Speckle-type POZ protein could play a potential inhibitory role in
            human renal cell carcinoma
  JOURNAL   BMC Cancer 22 (1), 1277 (2022)
   PUBMED   36474188
  REMARK    GeneRIF: Speckle-type POZ protein could play a potential inhibitory
            role in human renal cell carcinoma.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 374)
  AUTHORS   Diefenbach A, Tomasello E, Lucas M, Jamieson AM, Hsia JK, Vivier E
            and Raulet DH.
  TITLE     Selective associations with signaling proteins determine
            stimulatory versus costimulatory activity of NKG2D
  JOURNAL   Nat Immunol 3 (12), 1142-1149 (2002)
   PUBMED   12426565
  REMARK    Erratum:[Nat Immunol. 2004 Jun;5(6):658]
REFERENCE   7  (residues 1 to 374)
  AUTHORS   Gilfillan S, Ho EL, Cella M, Yokoyama WM and Colonna M.
  TITLE     NKG2D recruits two distinct adapters to trigger NK cell activation
            and costimulation
  JOURNAL   Nat Immunol 3 (12), 1150-1155 (2002)
   PUBMED   12426564
REFERENCE   8  (residues 1 to 374)
  AUTHORS   Zapata JM, Pawlowski K, Haas E, Ware CF, Godzik A and Reed JC.
  TITLE     A diverse family of proteins containing tumor necrosis factor
            receptor-associated factor domains
  JOURNAL   J Biol Chem 276 (26), 24242-24252 (2001)
   PUBMED   11279055
REFERENCE   9  (residues 1 to 374)
  AUTHORS   Wu J, Song Y, Bakker AB, Bauer S, Spies T, Lanier LL and Phillips
            JH.
  TITLE     An activating immunoreceptor complex formed by NKG2D and DAP10
  JOURNAL   Science 285 (5428), 730-732 (1999)
   PUBMED   10426994
REFERENCE   10 (residues 1 to 374)
  AUTHORS   Nagai Y, Kojima T, Muro Y, Hachiya T, Nishizawa Y, Wakabayashi T
            and Hagiwara M.
  TITLE     Identification of a novel nuclear speckle-type protein, SPOP
  JOURNAL   FEBS Lett 418 (1-2), 23-26 (1997)
   PUBMED   9414087
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX282325.1, BC001269.1,
            AK123385.1, W84567.1, BM693397.1, BQ226031.1 and AW449169.1.
            
            Summary: This gene encodes a protein that may modulate the
            transcriptional repression activities of death-associated protein 6
            (DAXX), which interacts with histone deacetylase, core histones,
            and other histone-associated proteins. In mouse, the encoded
            protein binds to the putative leucine zipper domain of macroH2A1.2,
            a variant H2A histone that is enriched on inactivated X
            chromosomes. The BTB/POZ domain of this protein has been shown in
            other proteins to mediate transcriptional repression and to
            interact with components of histone deacetylase co-repressor
            complexes. Alternative splicing of this gene results in multiple
            transcript variants encoding the same protein. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Transcript variants 1-6 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC001269.1, SRR14038196.1785107.1
                                           [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..374
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     Protein         1..374
                     /product="speckle-type POZ protein"
                     /note="HIB homolog 1; roadkill homolog 1"
                     /calculated_mol_wt=42001
     Region          28..166
                     /region_name="MATH_SPOP"
                     /note="Speckle-type POZ protein (SPOP) family, MATH
                     domain; composed of proteins with similarity to human
                     SPOP. SPOP was isolated as a novel antigen recognized by
                     serum from a scleroderma patient, whose overexpression in
                     COS cells results in a discrete speckled...; cd03774"
                     /db_xref="CDD:239743"
     Region          71..191
                     /region_name="Required for nuclear localization"
                     /note="propagated from UniProtKB/Swiss-Prot (O43791.1)"
     Site            order(87,130..132)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:239743"
     Region          123..133
                     /region_name="Important for binding substrate proteins"
                     /note="propagated from UniProtKB/Swiss-Prot (O43791.1)"
     Region          182..301
                     /region_name="BTB_POZ_SPOP-like"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in speckle-type
                     POZ protein (SPOP) and similar proteins; cd18279"
                     /db_xref="CDD:349588"
     Region          186..217
                     /region_name="Important for homodimerization"
                     /note="propagated from UniProtKB/Swiss-Prot (O43791.1)"
     Region          297..367
                     /region_name="BACK_SPOP"
                     /note="BACK (BTB and C-terminal Kelch) domain found in
                     speckle-type POZ protein (SPOP); cd18518"
                     /db_xref="CDD:350593"
     Region          297..355
                     /region_name="Important for homodimerization"
                     /note="propagated from UniProtKB/Swiss-Prot (O43791.1)"
     CDS             1..374
                     /gene="SPOP"
                     /gene_synonym="BTBD32; NEDMACE; NEDMIDF; NSDVS1; NSDVS2;
                     TEF2"
                     /coded_by="NM_003563.3:420..1544"
                     /db_xref="CCDS:CCDS11551.1"
                     /db_xref="GeneID:8405"
                     /db_xref="HGNC:HGNC:11254"
                     /db_xref="MIM:602650"
ORIGIN      
        1 msrvpspppp aemssgpvae swcytqikvv kfsymwtinn fsfcreemge viksstfssg
       61 andklkwclr vnpkgldees kdylslylll vscpksevra kfkfsilnak geetkamesq
      121 rayrfvqgkd wgfkkfirrd flldeangll pddkltlfce vsvvqdsvni sgqntmnmvk
      181 vpecrladel gglwensrft dcclcvagqe fqahkailaa rspvfsamfe hemeeskknr
      241 veindvepev fkemmcfiyt gkapnldkma ddllaaadky alerlkvmce dalcsnlsve
      301 naaeililad lhsadqlktq avdfinyhas dvletsgwks mvvshphlva eayrslasaq
      361 cpflgpprkr lkqs
//
LOCUS       NP_115711                312 aa            linear   PRI 03-APR-2023
DEFINITION  PHD finger protein 6 isoform 2 [Homo sapiens].
ACCESSION   NP_115711
VERSION     NP_115711.2
DBSOURCE    REFSEQ: accession NM_032335.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 312)
  AUTHORS   Gao S, Zhang W, Ma J and Ni X.
  TITLE     PHF6 recruits BPTF to promote HIF-dependent pathway and progression
            in YAP-high breast cancer
  JOURNAL   J Transl Med 21 (1), 220 (2023)
   PUBMED   36967443
  REMARK    GeneRIF: PHF6 recruits BPTF to promote HIF-dependent pathway and
            progression in YAP-high breast cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 312)
  AUTHORS   Wang X, Fang A, Peng Y, Yu J, Yu C, Xie J, Zheng Y, Song L, Li P,
            Li J, Kang X, Lin Y and Li W.
  TITLE     PHF6 promotes the progression of endometrial carcinoma by
            increasing cancer cells growth and decreasing T-cell infiltration
  JOURNAL   J Cell Mol Med 27 (5), 609-621 (2023)
   PUBMED   36756714
  REMARK    GeneRIF: PHF6 promotes the progression of endometrial carcinoma by
            increasing cancer cells growth and decreasing T-cell infiltration.
REFERENCE   3  (residues 1 to 312)
  AUTHORS   Huang K, Wang L, Zheng Y, Yue C, Xu X, Chen H, Huang R and Li Y.
  TITLE     PHF6 mutation is associated with poor outcome in acute myeloid
            leukaemia
  JOURNAL   Cancer Med 12 (3), 2795-2804 (2023)
   PUBMED   36176187
  REMARK    GeneRIF: PHF6 mutation is associated with poor outcome in acute
            myeloid leukaemia.
REFERENCE   4  (residues 1 to 312)
  AUTHORS   Eisa YA, Guo Y and Yang FC.
  TITLE     The Role of PHF6 in Hematopoiesis and Hematologic Malignancies
  JOURNAL   Stem Cell Rev Rep 19 (1), 67-75 (2023)
   PUBMED   36008597
  REMARK    GeneRIF: The Role of PHF6 in Hematopoiesis and Hematologic
            Malignancies.
            Review article
REFERENCE   5  (residues 1 to 312)
  AUTHORS   Gao X, Fan S and Zhang X.
  TITLE     MiR-1306-5p promotes cell proliferation and inhibits cell apoptosis
            in acute myeloid leukemia by downregulating PHF6 expression
  JOURNAL   Leuk Res 120, 106906 (2022)
   PUBMED   35780573
  REMARK    GeneRIF: MiR-1306-5p promotes cell proliferation and inhibits cell
            apoptosis in acute myeloid leukemia by downregulating PHF6
            expression.
REFERENCE   6  (residues 1 to 312)
  AUTHORS   Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M,
            Smith JC, Kerr B, Schelley S, Hoyme HE, De Vries BB, Kleefstra T,
            Grompe M, Cox B, Gecz J and Partington M.
  TITLE     The clinical picture of the Borjeson-Forssman-Lehmann syndrome in
            males and heterozygous females with PHF6 mutations
  JOURNAL   Clin Genet 65 (3), 226-232 (2004)
   PUBMED   14756673
  REMARK    GeneRIF: A study of 9 families with PHF6 muations revealed that the
            phenotype is milder and more variable than previously described and
            evolves with age; seven missense mutations and two truncation
            mutations were identifed
REFERENCE   7  (residues 1 to 312)
  AUTHORS   Birrell G, Lampe A, Richmond S, Bruce SN, Gecz J, Lower K, Wright M
            and Cheetham TD.
  TITLE     Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone
            deficiency
  JOURNAL   J Pediatr Endocrinol Metab 16 (9), 1295-1300 (2003)
   PUBMED   14714754
  REMARK    GeneRIF: 'The gene, PHF6, implicated in the
            Borjeson-Forssman-Lehmann syndrome has recently been identified.'
            p. 1295
REFERENCE   8  (residues 1 to 312)
  AUTHORS   Dattani MT.
  TITLE     Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due
            to mutation in a novel gene
  JOURNAL   J Pediatr Endocrinol Metab 16 (9), 1207-1209 (2003)
   PUBMED   14714741
  REMARK    GeneRIF: '...mutations within a novel widely expressed zinc-finger
            gene (PHF6) have been described in nine families with
            Borjesson-Forssman-Lehmann syndrome...' p. 1208
REFERENCE   9  (residues 1 to 312)
  AUTHORS   Baumstark A, Lower KM, Sinkus A, Andriuskeviciute I, Jurkeniene L,
            Gecz J and Just W.
  TITLE     Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann
            syndrome
  JOURNAL   J Med Genet 40 (4), e50 (2003)
   PUBMED   12676923
REFERENCE   10 (residues 1 to 312)
  AUTHORS   Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK,
            Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK,
            Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B,
            Grompe M, Ross S, Thomas P, Mulley JC and Gecz J.
  TITLE     Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann
            syndrome
  JOURNAL   Nat Genet 32 (4), 661-665 (2002)
   PUBMED   12415272
  REMARK    GeneRIF: A novel, widely expressed zinc-finger (plant
            homeodomain[PHD]-like finger) gene had 8 different missense and
            truncation mutations in 7 familial and 2 sporadic cases of BFLS (p.
            661).
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DR000282.1, BC005994.1 and
            AK290095.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 12, 2005 this sequence version replaced NP_115711.1.
            
            Summary: This gene is a member of the plant homeodomain (PHD)-like
            finger (PHF) family. It encodes a protein with two PHD-type zinc
            finger domains, indicating a potential role in transcriptional
            regulation, that localizes to the nucleolus. Mutations affecting
            the coding region of this gene or the splicing of the transcript
            have been associated with Borjeson-Forssman-Lehmann syndrome
            (BFLS), a disorder characterized by cognitive disability, epilepsy,
            hypogonadism, hypometabolism, obesity, swelling of subcutaneous
            tissue of the face, narrow palpebral fissures, and large ears.
            Alternate splicing results in multiple transcript variants,
            encoding different isoforms. [provided by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (3) uses an alternate termination
            site, resulting in a distinct C-terminus (isoform 2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC005994.1, SRR1163658.264545.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..312
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.2"
     Protein         1..312
                     /product="PHD finger protein 6 isoform 2"
                     /note="PHD-like zinc finger protein; centromere protein
                     31"
                     /calculated_mol_wt=35198
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8IWS0.1)"
     Region          13..16
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWS0.1)"
     Region          14..132
                     /region_name="Extended PHD1 domain (ePHD1).
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01146"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWS0.1)"
     Region          17..131
                     /region_name="ePHD1_PHF6"
                     /note="Extended PHD finger 1 found in PHD finger protein 6
                     (PHF6); cd15710"
                     /db_xref="CDD:277180"
     Site            order(81,90..94,100,126)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277180"
     Region          129..133
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWS0.1)"
     Site            138
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IWS0.1)"
     Site            146
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IWS0.1)"
     Site            147
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8IWS0.1)"
     Site            156
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IWS0.1)"
     Region          158..170
                     /region_name="Nucleolar localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWS0.1)"
     Site            184
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D4J7; propagated from
                     UniProtKB/Swiss-Prot (Q8IWS0.1)"
     Site            200
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IWS0.1)"
     Region          213..>283
                     /region_name="PHD_SF"
                     /note="PHD finger superfamily; cl22851"
                     /db_xref="CDD:451427"
     CDS             1..312
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /coded_by="NM_032335.3:203..1141"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS14640.1"
                     /db_xref="GeneID:84295"
                     /db_xref="HGNC:HGNC:18145"
                     /db_xref="MIM:300414"
ORIGIN      
        1 msssveqkkg ptrqrkcgfc ksnrdkecgq llisenqkva ahhkcmlfss alvsshsdne
       61 slggfsiedv qkeikrgtkl mcslchcpga tigcdvktch rtyhyhcalh dkaqirekps
      121 qgiymvycrk hkktahnsea adleesfneh elepsspksk kksrkgrprk tnfkglsedt
      181 rstsshgtde messsyrdrs phrsspsdtr pkcgfchvge eeneargklh ifnakkaaah
      241 ykcmlfssgt vqltttsrae fgdfdiktvl qeikrgkrmv csfyicyatl hliccfkfrv
      301 hpkfiqssen lk
//
LOCUS       NP_056259                300 aa            linear   PRI 03-APR-2023
DEFINITION  transmembrane protein 158 precursor [Homo sapiens].
ACCESSION   NP_056259
VERSION     NP_056259.2
DBSOURCE    REFSEQ: accession NM_015444.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 300)
  AUTHORS   Li J, Hou H, Sun J, Ding Z, Xu Y and Li G.
  TITLE     Systematic pan-cancer analysis identifies transmembrane protein 158
            as a potential therapeutic, prognostic and immunological biomarker
  JOURNAL   Funct Integr Genomics 23 (2), 105 (2023)
   PUBMED   36977915
  REMARK    GeneRIF: Systematic pan-cancer analysis identifies transmembrane
            protein 158 as a potential therapeutic, prognostic and
            immunological biomarker.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 300)
  AUTHORS   Li J, Wang X, Chen L, Zhang J, Zhang Y, Ren X, Sun J, Fan X, Fan J,
            Li T, Tong L, Yi L, Chen L, Liu J, Shang G, Ren X, Zhang H, Yu S,
            Ming H, Huang Q, Dong J, Zhang C and Yang X.
  TITLE     TMEM158 promotes the proliferation and migration of glioma cells
            via STAT3 signaling in glioblastomas
  JOURNAL   Cancer Gene Ther 29 (8-9), 1117-1129 (2022)
   PUBMED   34992215
  REMARK    GeneRIF: TMEM158 promotes the proliferation and migration of glioma
            cells via STAT3 signaling in glioblastomas.
REFERENCE   3  (residues 1 to 300)
  AUTHORS   Li HN, Du YY, Xu T, Zhang R, Wang G, Lv ZT and Li XR.
  TITLE     TMEM158 May Serve as a Diagnostic Biomarker for Anaplastic Thyroid
            Carcinoma: An Integrated Bioinformatic Analysis
  JOURNAL   Curr Med Sci 40 (6), 1137-1147 (2020)
   PUBMED   33428142
  REMARK    GeneRIF: TMEM158 May Serve as a Diagnostic Biomarker for Anaplastic
            Thyroid Carcinoma: An Integrated Bioinformatic Analysis.
REFERENCE   4  (residues 1 to 300)
  AUTHORS   Fu Y, Yao N, Ding D, Zhang X, Liu H, Ma L, Shi W, Zhu C and Tang L.
  TITLE     TMEM158 promotes pancreatic cancer aggressiveness by activation of
            TGFbeta1 and PI3K/AKT signaling pathway
  JOURNAL   J Cell Physiol 235 (3), 2761-2775 (2020)
   PUBMED   31531884
  REMARK    GeneRIF: TMEM158 promotes pancreatic cancer aggressiveness by
            activation of TGFbeta1 and PI3K/AKT signaling pathway.
REFERENCE   5  (residues 1 to 300)
  AUTHORS   Liu L, Zhang J, Li S, Yin L and Tai J.
  TITLE     Silencing of TMEM158 Inhibits Tumorigenesis and Multidrug
            Resistance in Colorectal Cancer
  JOURNAL   Nutr Cancer 72 (4), 662-671 (2020)
   PUBMED   31389251
  REMARK    GeneRIF: Silencing of TMEM158 Inhibits Tumorigenesis and Multidrug
            Resistance in Colorectal Cancer.
REFERENCE   6  (residues 1 to 300)
  AUTHORS   Zhang ZD, Frankish A, Hunt T, Harrow J and Gerstein M.
  TITLE     Identification and analysis of unitary pseudogenes: historic and
            contemporary gene losses in humans and other primates
  JOURNAL   Genome Biol 11 (3), R26 (2010)
   PUBMED   20210993
REFERENCE   7  (residues 1 to 300)
  AUTHORS   Sussan TE, Pletcher MT, Murakami Y and Reeves RH.
  TITLE     Tumor suppressor in lung cancer 1 (TSLC1) alters tumorigenic growth
            properties and gene expression
  JOURNAL   Mol Cancer 4, 28 (2005)
   PUBMED   16083501
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 300)
  AUTHORS   Verlinden I, Janssens J, Raus J and Michiels L.
  TITLE     Microdissection and SAGE as a combined tool to reveal gene
            expression in ductal carcinoma in situ of the breast
  JOURNAL   Mol Carcinog 41 (4), 197-206 (2004)
   PUBMED   15486950
REFERENCE   9  (residues 1 to 300)
  AUTHORS   Barradas M, Gonos ES, Zebedee Z, Kolettas E, Petropoulou C, Delgado
            MD, Leon J, Hara E and Serrano M.
  TITLE     Identification of a candidate tumor-suppressor gene specifically
            activated during Ras-induced senescence
  JOURNAL   Exp Cell Res 273 (2), 127-137 (2002)
   PUBMED   11822868
REFERENCE   10 (residues 1 to 300)
  AUTHORS   Hama T, Maruyama M, Katoh-Semba R, Takizawa M, Iwashima M and Nara
            K.
  TITLE     Identification and molecular cloning of a novel brain-specific
            receptor protein that binds to brain injury-derived neurotrophic
            peptide. Possible role for neuronal survival
  JOURNAL   J Biol Chem 276 (34), 31929-31935 (2001)
   PUBMED   11399754
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX459891.2, AF438313.1,
            BX401325.2, BQ000094.1 and BU627971.1.
            On Oct 27, 2006 this sequence version replaced NP_056259.1.
            
            Summary: Constitutive activation of the Ras pathway triggers an
            irreversible proliferation arrest reminiscent of replicative
            senescence. Transcription of this gene is upregulated in response
            to activation of the Ras pathway, but not under other conditions
            that induce senescence. The encoded protein is similar to a rat
            cell surface receptor proposed to function in a neuronal survival
            pathway. An allelic polymorphism in this gene results in both
            functional and non-functional (frameshifted) alleles; the reference
            genome represents the functional allele. [provided by RefSeq, Jul
            2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: AF438313.1, DRR138528.771567.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000503771.2/ ENSP00000422431.1
            polymorphic pseudogene :: PMID: 20210993
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..300
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..300
                     /product="transmembrane protein 158 precursor"
                     /note="brain injury-derived neurotrophic peptide (BINP)
                     binding protein; Ras induced senescence 1; brain specific
                     binding protein; BINP receptor; 40 kDa BINP-binding
                     protein"
                     /calculated_mol_wt=28435
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1988
     mat_peptide     21..300
                     /product="Transmembrane protein 158. /id=PRO_0000285128"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ71.2)"
                     /calculated_mol_wt=28435
     Site            75
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WZ71.2)"
     Site            231..251
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ71.2)"
     Site            273..293
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ71.2)"
     CDS             1..300
                     /gene="TMEM158"
                     /gene_synonym="BBP; p40BBP; RIS1"
                     /coded_by="NM_015444.3:261..1163"
                     /db_xref="CCDS:CCDS54573.1"
                     /db_xref="GeneID:25907"
                     /db_xref="HGNC:HGNC:30293"
                     /db_xref="MIM:620257"
ORIGIN      
        1 mlpllaalla aacplppvrg gaadapgllg vpsnasvnas sadepiaprl lasaapgppe
       61 rpgpeeaaaa aapcnisvqr qmlssllvrw grprgfqcdl llfstnahgr affaaafhrv
      121 gpplliehlg laaggaqqdl rlcvgcgwvr grrtgrlrpa aapsaaaata gaptalpayp
      181 aaeppgplwl qgeplhfccl dfsleelqge pgwrlnrkpi estlvacfmt lvivvwsvaa
      241 liwpvpiiag flpngmeqrr ttasttaatp aavpagttaa aaaaaaaaaa aavtsgvatk
//
LOCUS       NP_001372069             522 aa            linear   PRI 03-APR-2023
DEFINITION  brain-specific angiogenesis inhibitor 1-associated protein 2
            isoform 16 [Homo sapiens].
ACCESSION   NP_001372069 XP_005257005
VERSION     NP_001372069.1
DBSOURCE    REFSEQ: accession NM_001385140.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 522)
  AUTHORS   Mukherjee A, Ron JE, Hu HT, Nishimura T, Hanawa-Suetsugu K, Behkam
            B, Mimori-Kiyosue Y, Gov NS, Suetsugu S and Nain AS.
  TITLE     Actin Filaments Couple the Protrusive Tips to the Nucleus through
            the I-BAR Domain Protein IRSp53 during the Migration of Cells on 1D
            Fibers
  JOURNAL   Adv Sci (Weinh) 10 (7), e2207368 (2023)
   PUBMED   36698307
  REMARK    GeneRIF: Actin Filaments Couple the Protrusive Tips to the Nucleus
            through the I-BAR Domain Protein IRSp53 during the Migration of
            Cells on 1D Fibers.
REFERENCE   2  (residues 1 to 522)
  AUTHORS   Salokas K, Liu X, Ohman T, Chowdhury I, Gawriyski L, Keskitalo S
            and Varjosalo M.
  TITLE     Physical and functional interactome atlas of human receptor
            tyrosine kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   3  (residues 1 to 522)
  AUTHORS   Kim Y, Yang E and Kim H.
  TITLE     Impaired prepulse inhibition in mice with IRSp53 deletion in
            modulatory neurotransmitter neurons including dopamine,
            acetylcholine, oxytocin, and serotonin
  JOURNAL   Biochem Biophys Res Commun 586, 114-120 (2022)
   PUBMED   34839189
  REMARK    GeneRIF: Impaired prepulse inhibition in mice with IRSp53 deletion
            in modulatory neurotransmitter neurons including dopamine,
            acetylcholine, oxytocin, and serotonin.
REFERENCE   4  (residues 1 to 522)
  AUTHORS   Lakshman Kumar P, Wilson AC, Rocco A, Cho MH, Wan E, Hobbs BD,
            Washko GR, Ortega VE, Christenson SA, Li X, Wells JM, Bhatt SP,
            DeMeo DL, Lutz SM, Rossiter H, Casaburi R, Rennard SI, Lomas DA,
            Labaki WW, Tal-Singer R, Bowler RP, Hersh CP, Tiwari HK, Dransfield
            M, Thalacker-Mercer A, Meyers DA, Silverman EK and McDonald MN.
  CONSRTM   COPDGene, ECLIPSE and SPIROMICS investigators
  TITLE     Genetic variation in genes regulating skeletal muscle regeneration
            and tissue remodelling associated with weight loss in chronic
            obstructive pulmonary disease
  JOURNAL   J Cachexia Sarcopenia Muscle 12 (6), 1803-1817 (2021)
   PUBMED   34523824
  REMARK    GeneRIF: Genetic variation in genes regulating skeletal muscle
            regeneration and tissue remodelling associated with weight loss in
            chronic obstructive pulmonary disease.
REFERENCE   5  (residues 1 to 522)
  AUTHORS   Liu F, Chen Y, Zhao S, Li M, Luo F and Tang CE.
  TITLE     Insulin Receptor Substrate p53 Ameliorates High-Glucose-Induced
            Activation of NF-kappaB and Impaired Mobility of HUVECs
  JOURNAL   Biomed Res Int 2021, 3210586 (2021)
   PUBMED   33506012
  REMARK    GeneRIF: Insulin Receptor Substrate p53 Ameliorates
            High-Glucose-Induced Activation of NF-kappaB and Impaired Mobility
            of HUVECs.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 522)
  AUTHORS   Miyahara A, Okamura-Oho Y, Miyashita T, Hoshika A and Yamada M.
  TITLE     Genomic structure and alternative splicing of the insulin receptor
            tyrosine kinase substrate of 53-kDa protein
  JOURNAL   J Hum Genet 48 (8), 410-414 (2003)
   PUBMED   12884081
REFERENCE   7  (residues 1 to 522)
  AUTHORS   Fujiwara T, Mammoto A, Kim Y and Takai Y.
  TITLE     Rho small G-protein-dependent binding of mDia to an Src homology 3
            domain-containing IRSp53/BAIAP2
  JOURNAL   Biochem Biophys Res Commun 271 (3), 626-629 (2000)
   PUBMED   10814512
REFERENCE   8  (residues 1 to 522)
  AUTHORS   Abbott MA, Wells DG and Fallon JR.
  TITLE     The insulin receptor tyrosine kinase substrate p58/53 and the
            insulin receptor are components of CNS synapses
  JOURNAL   J Neurosci 19 (17), 7300-7308 (1999)
   PUBMED   10460236
REFERENCE   9  (residues 1 to 522)
  AUTHORS   Okamura-Oho Y, Miyashita T, Ohmi K and Yamada M.
  TITLE     Dentatorubral-pallidoluysian atrophy protein interacts through a
            proline-rich region near polyglutamine with the SH3 domain of an
            insulin receptor tyrosine kinase substrate
  JOURNAL   Hum Mol Genet 8 (6), 947-957 (1999)
   PUBMED   10332026
REFERENCE   10 (residues 1 to 522)
  AUTHORS   Oda K, Shiratsuchi T, Nishimori H, Inazawa J, Yoshikawa H, Taketani
            Y, Nakamura Y and Tokino T.
  TITLE     Identification of BAIAP2 (BAI-associated protein 2), a novel human
            homologue of hamster IRSp53, whose SH3 domain interacts with the
            cytoplasmic domain of BAI1
  JOURNAL   Cytogenet Cell Genet 84 (1-2), 75-82 (1999)
   PUBMED   10343108
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC127496.5 and AC115099.6.
            On Jul 8, 2020 this sequence version replaced XP_005257005.1.
            
            Summary: The protein encoded by this gene has been identified as a
            brain-specific angiogenesis inhibitor (BAI1)-binding protein. This
            adaptor protein links membrane bound G-proteins to cytoplasmic
            effector proteins. This protein functions as an insulin receptor
            tyrosine kinase substrate and suggests a role for insulin in the
            central nervous system. It also associates with a downstream
            effector of Rho small G proteins, which is associated with the
            formation of stress fibers and cytokinesis. This protein is
            involved in lamellipodia and filopodia formation in motile cells
            and may affect neuronal growth-cone guidance. This protein has also
            been identified as interacting with the
            dentatorubral-pallidoluysian atrophy gene, which is associated with
            an autosomal dominant neurodegenerative disease. Alternative
            splicing results in multiple transcript variants encoding distinct
            isoforms.[provided by RefSeq, Jan 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC014020.2, SRR14038191.1986836.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..522
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..522
                     /product="brain-specific angiogenesis inhibitor
                     1-associated protein 2 isoform 16"
                     /note="brain-specific angiogenesis inhibitor 1-associated
                     protein 2; insulin receptor substrate p53/p58; fas
                     ligand-associated factor 3; WASP and MIM like; IRS-58;
                     IRSp53/58; insulin receptor substrate protein of 53 kDa;
                     insulin receptor substrate of 53 kDa; BAI1 associated
                     protein 2"
                     /calculated_mol_wt=57299
     Region          5..236
                     /region_name="I-BAR_IMD_IRSp53"
                     /note="Inverse (I)-BAR, also known as the IRSp53/MIM
                     homology Domain (IMD), of Insulin Receptor tyrosine kinase
                     Substrate p53; cd07646"
                     /db_xref="CDD:153330"
     Site            order(5,9,12,15..16,23..24,27..28,31,34..35,37..38,41..42,
                     44..45,48..49,51..52,55..56,58..59,62..63,66..69,71..72,
                     75..76,79,86,97,101,176,180,183..184,187..188,190..192,
                     194..195,197..199,201..202,205..206,208..209,211..213,216,
                     219,223,226..227,229..230,232..233,235..236)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153330"
     Site            order(11,23,143)
                     /site_type="other"
                     /note="putative Rac binding residues [polypeptide
                     binding]"
                     /db_xref="CDD:153330"
     Site            order(108,130,147,171)
                     /site_type="other"
                     /note="putative membrane interaction site"
                     /db_xref="CDD:153330"
     Site            order(142,145,147)
                     /site_type="other"
                     /note="putative actin binding residues [polypeptide
                     binding]"
                     /db_xref="CDD:153330"
     Site            261
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            296
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            323
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            325
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            336
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            340
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            346
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            361
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            367
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Region          378..436
                     /region_name="SH3_Irsp53"
                     /note="Src Homology 3 domain of Insulin Receptor tyrosine
                     kinase Substrate p53; cd11915"
                     /db_xref="CDD:212848"
     Site            order(383..384,386,393..394,406..407,412..414,416,
                     426..427,429..432)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212848"
     Site            385
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            396
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BKX1; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Region          448..467
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            455
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     CDS             1..522
                     /gene="BAIAP2"
                     /gene_synonym="BAP2; FLAF3; IRSP53; WAML"
                     /coded_by="NM_001385140.1:105..1673"
                     /note="isoform 16 is encoded by transcript variant 18"
                     /db_xref="GeneID:10458"
                     /db_xref="HGNC:HGNC:947"
                     /db_xref="MIM:605475"
ORIGIN      
        1 mslsrseemh rltenvykti meqfnpslrn fiamgknyek alagvtyaak gyfdalvkmg
       61 elasesqgsk elgdvlfqma evhrqiqnql eemlksfhne lltqleqkve ldsrylsaal
      121 kkyqteqrsk gdaldkcqae lkklrkksqg sknpqkysdk elqyidaisn kqgelenyvs
      181 dgyktaltee rrrfcflvek qcavaknsaa yhskgkella qklplwqqac adpskipera
      241 vqlmqqvasn gatlpsalsa sksnlvisdp ipgakplpvp pelapfvgrm saqestpimn
      301 gvtgpdgedy spwadrkaaq pkslsppqsq sklsdsysnt lpvrksvtpk nsyattaenk
      361 tlprsssmaa glerngrmrv kaifshaagd nstllsfkeg dlitllvpea rdgwhygese
      421 ktkmrgwfpf sytrvldsdg sdrlhmslqq gkssstgnll dkddlaippp dygaasrafp
      481 aqtasgfkqr pysvavpafs qglddygars mssgsgtlvs tv
//
LOCUS       NP_001361249             392 aa            linear   PRI 10-APR-2023
DEFINITION  protein disulfide isomerase CRELD1 isoform 4 precursor [Homo
            sapiens].
ACCESSION   NP_001361249
VERSION     NP_001361249.1
DBSOURCE    REFSEQ: accession NM_001374320.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 392)
  AUTHORS   Pinnaro CT, Beck CB, Major HJ and Darbro BW.
  TITLE     CRELD1 variants are associated with bicuspid aortic valve in Turner
            syndrome
  JOURNAL   Hum Genet 142 (4), 523-530 (2023)
   PUBMED   36929416
  REMARK    GeneRIF: CRELD1 variants are associated with bicuspid aortic valve
            in Turner syndrome.
REFERENCE   2  (residues 1 to 392)
  AUTHORS   D'Alessandro M, Richard M, Stigloher C, Gache V, Boulin T, Richmond
            JE and Bessereau JL.
  TITLE     CRELD1 is an evolutionarily-conserved maturational enhancer of
            ionotropic acetylcholine receptors
  JOURNAL   Elife 7, e39649 (2018)
   PUBMED   30407909
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 392)
  AUTHORS   Asim A, Agarwal S, Panigrahi I, Sarangi AN, Muthuswamy S and Kapoor
            A.
  TITLE     CRELD1 gene variants and atrioventricular septal defects in Down
            syndrome
  JOURNAL   Gene 641, 180-185 (2018)
   PUBMED   29054759
  REMARK    GeneRIF: The CRELD1 gene is likely to have a major role in
            causation of AVSD phenotype in selected DS patients.
REFERENCE   4  (residues 1 to 392)
  AUTHORS   Naba A, Pearce OMT, Del Rosario A, Ma D, Ding H, Rajeeve V,
            Cutillas PR, Balkwill FR and Hynes RO.
  TITLE     Characterization of the Extracellular Matrix of Normal and Diseased
            Tissues Using Proteomics
  JOURNAL   J Proteome Res 16 (8), 3083-3091 (2017)
   PUBMED   28675934
REFERENCE   5  (residues 1 to 392)
  AUTHORS   Alcantara-Ortigoza MA, De Rubens-Figueroa J, Reyna-Fabian ME,
            Estandia-Ortega B, Gonzalez-del Angel A, Molina-Alvarez B,
            Velazquez-Aragon JA, Villagomez-Martinez S, Pereira-Lopez GI,
            Martinez-Cruz V, Alvarez-Gomez RM and Diaz-Garcia L.
  TITLE     Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a
            Mexican sample of Down syndrome patients with endocardial cushion
            and septal heart defects
  JOURNAL   Pediatr Cardiol 36 (4), 802-808 (2015)
   PUBMED   25524324
  REMARK    GeneRIF: Germline mutations in the NKX2-5, GATA4, and CRELD1 genes
            do not appear to be associated with CHD in Mexican DS patients.
            Erratum:[Pediatr Cardiol. 2015 Oct;36(7):1551. PMID: 26205256]
REFERENCE   6  (residues 1 to 392)
  AUTHORS   Sarkozy,A., Esposito,G., Conti,E., Digilio,M.C., Marino,B.,
            Calabro,R., Pizzuti,A. and Dallapiccola,B.
  TITLE     CRELD1 and GATA4 gene analysis in patients with nonsyndromic
            atrioventricular canal defects
  JOURNAL   Am J Med Genet A 139 (3), 236-238 (2005)
   PUBMED   16278904
REFERENCE   7  (residues 1 to 392)
  AUTHORS   Zatyka,M., Priestley,M., Ladusans,E.J., Fryer,A.E., Mason,J.,
            Latif,F. and Maher,E.R.
  TITLE     Analysis of CRELD1 as a candidate 3p25 atrioventicular septal
            defect locus (AVSD2)
  JOURNAL   Clin Genet 67 (6), 526-528 (2005)
   PUBMED   15857420
REFERENCE   8  (residues 1 to 392)
  AUTHORS   Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner
            RD and Maslen CL.
  TITLE     Missense mutations in CRELD1 are associated with cardiac
            atrioventricular septal defects
  JOURNAL   Am J Hum Genet 72 (4), 1047-1052 (2003)
   PUBMED   12632326
  REMARK    GeneRIF: Missense mutations in this protein are associated with
            cardiac atrioventricular septal defects.
REFERENCE   9  (residues 1 to 392)
  AUTHORS   Rupp PA, Fouad GT, Egelston CA, Reifsteck CA, Olson SB, Knosp WM,
            Glanville RW, Thornburg KL, Robinson SW and Maslen CL.
  TITLE     Identification, genomic organization and mRNA expression of CRELD1,
            the founding member of a unique family of matricellular proteins
  JOURNAL   Gene 293 (1-2), 47-57 (2002)
   PUBMED   12137942
REFERENCE   10 (residues 1 to 392)
  AUTHORS   Green EK, Priestley MD, Waters J, Maliszewska C, Latif F and Maher
            ER.
  TITLE     Detailed mapping of a congenital heart disease gene in chromosome
            3p25
  JOURNAL   J Med Genet 37 (8), 581-587 (2000)
   PUBMED   10922384
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018809.5.
            
            Summary: This gene encodes a member of a subfamily of epidermal
            growth factor-related proteins. The encoded protein is
            characterized by a cysteine-rich with epidermal growth factor-like
            domain. This protein may function as a cell adhesion molecule.
            Mutations in this gene are the cause of atrioventricular septal
            defect. Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, Apr 2010].
            
            Transcript Variant: This variant (8), as well as variant 7, encodes
            isoform 4.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.215551.1,
                                           SRR1660805.146586.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..392
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     Protein         1..392
                     /product="protein disulfide isomerase CRELD1 isoform 4
                     precursor"
                     /EC_number="5.3.4.1"
                     /note="protein disulfide isomerase CRELD1"
                     /calculated_mol_wt=39273
     sig_peptide     1..29
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3216
     Region          46..>100
                     /region_name="DUF3456"
                     /note="TLR4 regulator and MIR-interacting MSAP; pfam11938"
                     /db_xref="CDD:432202"
     Region          210..246
                     /region_name="FU"
                     /note="Furin-like repeats; smart00261"
                     /db_xref="CDD:214589"
     Region          277..>308
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(277,280,295)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     CDS             1..392
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /coded_by="NM_001374320.1:389..1567"
                     /note="isoform 4 precursor is encoded by transcript
                     variant 8"
                     /db_xref="CCDS:CCDS93208.1"
                     /db_xref="GeneID:78987"
                     /db_xref="HGNC:HGNC:14630"
                     /db_xref="MIM:607170"
ORIGIN      
        1 mapwppkglv pamlwglslf lnlpgpiwlq pspppqsspp pqphpchtcr glvdsfnkgl
       61 ertirdnfgg gntaweeenl skykdsetrl vevlegvcsk sdfechrlle lseelvesww
      121 fhkqqeapdl fqwlcsdslk lccpagtfgp sclpcpggte rpcggygqce gegtrggsgh
      181 cdcqagygge acgqcglgyf eaernashlv csacfgpcar csgpeesncl qckkgwalhh
      241 lkcvdcakac lgcmgagpgr ckkcspgyqq vgskcldvde cetevcpgen kqcenteggy
      301 rcicaegykq megicvkeqi pesagffsem tedelvvlqq mffgiiical atlaakgdlv
      361 ftaifigava amtgywlser sdrvlegfik gr
//
LOCUS       NP_004324                766 aa            linear   PRI 10-APR-2023
DEFINITION  serine/threonine-protein kinase B-raf isoform 1 [Homo sapiens].
ACCESSION   NP_004324
VERSION     NP_004324.2
DBSOURCE    REFSEQ: accession NM_004333.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 766)
  AUTHORS   Jasmine F, Aschebrook-Kilfoy B, Rahman MM, Zaagman G, Grogan RH,
            Kamal M, Ahsan H and Kibriya MG.
  TITLE     Association of DNA Promoter Methylation and BRAF Mutation in
            Thyroid Cancer
  JOURNAL   Curr Oncol 30 (3), 2978-2996 (2023)
   PUBMED   36975440
  REMARK    GeneRIF: Association of DNA Promoter Methylation and BRAF Mutation
            in Thyroid Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 766)
  AUTHORS   Morafraile EC, Saiz-Ladera C, Nieto-Jimenez C, Gyorffy B, Nagy A,
            Velasco G, Perez-Segura P and Ocana A.
  TITLE     Mapping Immune Correlates and Surfaceome Genes in BRAF Mutated
            Colorectal Cancers
  JOURNAL   Curr Oncol 30 (3), 2569-2581 (2023)
   PUBMED   36975409
  REMARK    GeneRIF: Mapping Immune Correlates and Surfaceome Genes in BRAF
            Mutated Colorectal Cancers.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 766)
  AUTHORS   Danishevich AM, Pospehova NI, Stroganova AM, Golovina DA, Nikulin
            MP, Kalinin AE, Nikolaev SE, Stilidi IS and Lyubchenko LN.
  TITLE     [Landscape of KRAS, BRAF, and PIK3CA Mutations and Clinical
            Features of EBV-Associated and Microsatellite Unstable Gastric
            Cancer]
  JOURNAL   Mol Biol (Mosk) 57 (1), 71-84 (2023)
   PUBMED   36976740
  REMARK    GeneRIF: [Landscape of KRAS, BRAF, and PIK3CA Mutations and
            Clinical Features of EBV-Associated and Microsatellite Unstable
            Gastric Cancer].
REFERENCE   4  (residues 1 to 766)
  AUTHORS   Gripp,K.W. and Rauen,K.A.
  TITLE     Costello Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301680
REFERENCE   5  (residues 1 to 766)
  AUTHORS   Gelb,B.D. and Tartaglia,M.
  TITLE     Noonan Syndrome with Multiple Lentigines
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301557
REFERENCE   6  (residues 1 to 766)
  AUTHORS   Rauen,K.A.
  TITLE     Cardiofaciocutaneous Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301365
REFERENCE   7  (residues 1 to 766)
  AUTHORS   Roberts,A.E.
  TITLE     Noonan Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301303
REFERENCE   8  (residues 1 to 766)
  AUTHORS   Stephens RM, Sithanandam G, Copeland TD, Kaplan DR, Rapp UR and
            Morrison DK.
  TITLE     95-kilodalton B-Raf serine/threonine kinase: identification of the
            protein and its major autophosphorylation site
  JOURNAL   Mol Cell Biol 12 (9), 3733-3742 (1992)
   PUBMED   1508179
REFERENCE   9  (residues 1 to 766)
  AUTHORS   Eychene A, Barnier JV, Apiou F, Dutrillaux B and Calothy G.
  TITLE     Chromosomal assignment of two human B-raf(Rmil) proto-oncogene
            loci: B-raf-1 encoding the p94Braf/Rmil and B-raf-2, a processed
            pseudogene
  JOURNAL   Oncogene 7 (8), 1657-1660 (1992)
   PUBMED   1630826
REFERENCE   10 (residues 1 to 766)
  AUTHORS   Sithanandam G, Druck T, Cannizzaro LA, Leuzzi G, Huebner K and Rapp
            UR.
  TITLE     B-raf and a B-raf pseudogene are located on 7q in man
  JOURNAL   Oncogene 7 (4), 795-799 (1992)
   PUBMED   1565476
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006006.2, DB454480.1,
            BC101757.1, M95712.2, AW971583.1 and AC006344.2.
            On Jul 24, 2003 this sequence version replaced NP_004324.1.
            
            Summary: This gene encodes a protein belonging to the RAF family of
            serine/threonine protein kinases. This protein plays a role in
            regulating the MAP kinase/ERK signaling pathway, which affects cell
            division, differentiation, and secretion. Mutations in this gene,
            most commonly the V600E mutation, are the most frequently
            identified cancer-causing mutations in melanoma, and have been
            identified in various other cancers as well, including non-Hodgkin
            lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung
            carcinoma, hairy cell leukemia and adenocarcinoma of lung.
            Mutations in this gene are also associated with
            cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit
            overlapping phenotypes. A pseudogene of this gene has been
            identified on the X chromosome. [provided by RefSeq, Aug 2017].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M95712.2, BC101757.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000646891.2/ ENSP00000493543.1
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..766
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     Protein         1..766
                     /product="serine/threonine-protein kinase B-raf isoform 1"
                     /EC_number="2.7.11.1"
                     /note="serine/threonine-protein kinase B-raf; B-Raf
                     serine/threonine-protein; B-Raf proto-oncogene
                     serine/threonine-protein kinase (p94); murine sarcoma
                     viral (v-raf) oncogene homolog B1; v-raf murine sarcoma
                     viral oncogene homolog B1; 94 kDa B-raf protein;
                     proto-oncogene B-Raf"
                     /calculated_mol_wt=84306
     Region          1..38
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P15056.4)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.8;
                     propagated from UniProtKB/Swiss-Prot (P15056.4)"
     Site            151
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P15056.4)"
     Region          154..232
                     /region_name="RBD_BRAF"
                     /note="Ras-binding domain (RBD) found in
                     serine/threonine-protein kinase BRAF; cd17134"
                     /db_xref="CDD:340654"
     Site            order(156,158,163..168,170,183,187..189)
                     /site_type="other"
                     /note="putative RBD_Raf-Ras interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:340654"
     Site            order(156,163,165..168,183,186..189)
                     /site_type="other"
                     /note="putative RBD_Raf-KRas interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:340654"
     Site            order(174..176,196,198..199,206..209,211..213,216,225,
                     227..228,230..232)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:340654"
     Site            221
                     /site_type="other"
                     /note="putative Ca binding site [ion binding]"
                     /db_xref="CDD:340654"
     Region          230..289
                     /region_name="C1_B-Raf"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in B-Raf (Rapidly Accelerated Fibrosarcoma) kinase
                     and similar proteins; cd20871"
                     /db_xref="CDD:410421"
     Region          308..454
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P15056.4)"
     Site            333
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P28028; propagated from
                     UniProtKB/Swiss-Prot (P15056.4)"
     Site            365
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by SGK1.
                     /evidence=ECO:0000269|PubMed:11410590, ECO:0000269|Ref.8,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P15056.4)"
     Site            373
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:1508179; propagated from
                     UniProtKB/Swiss-Prot (P15056.4)"
     Site            380..381
                     /site_type="other"
                     /note="Breakpoint for translocation to form KIAA1549-BRAF
                     fusion protein; propagated from UniProtKB/Swiss-Prot
                     (P15056.4)"
     Site            396
                     /site_type="phosphorylation"
                     /note="Phosphothreonine. /evidence=ECO:0000269|Ref.8;
                     propagated from UniProtKB/Swiss-Prot (P15056.4)"
     Site            399
                     /site_type="phosphorylation"
                     /note="Phosphoserine. /evidence=ECO:0000269|Ref.8;
                     propagated from UniProtKB/Swiss-Prot (P15056.4)"
     Site            401
                     /site_type="phosphorylation"
                     /note="Phosphothreonine. /evidence=ECO:0000269|Ref.8,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P15056.4)"
     Site            438..439
                     /site_type="other"
                     /note="Breakpoint for translocation to form KIAA1549-BRAF
                     fusion protein; propagated from UniProtKB/Swiss-Prot
                     (P15056.4)"
     Site            446
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P15056.4)"
     Site            447
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P15056.4)"
     Region          463..715
                     /region_name="STKc_Raf"
                     /note="Catalytic domain of the Serine/Threonine Kinases,
                     Raf (Rapidly Accelerated Fibrosarcoma) kinases; cd14062"
                     /db_xref="CDD:270964"
     Site            order(463..467,471,481,483,514,529..532,536,538,576,578,
                     580..581,583,594,597,615..618)
                     /site_type="active"
                     /db_xref="CDD:270964"
     Site            order(463..467,471,481,483,514,529..532,536,576,578,
                     580..581,583,594)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270964"
     Site            order(467,536,538,576,578,580,597,615..618)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270964"
     Site            order(475,477..478,505..511,515..517,562,565..566,
                     569..570,586,588,715)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:270964"
     Site            order(593..606,612..618)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270964"
     Site            671
                     /site_type="methylation"
                     /note="Omega-N-methylarginine, by PRMT5.
                     /evidence=ECO:0000269|PubMed:21917714; propagated from
                     UniProtKB/Swiss-Prot (P15056.4)"
     Site            729
                     /site_type="phosphorylation"
                     /note="Phosphoserine. /evidence=ECO:0000269|Ref.8,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P15056.4)"
     Site            750
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P28028; propagated from
                     UniProtKB/Swiss-Prot (P15056.4)"
     Site            753
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by MAPK1.
                     /evidence=ECO:0000269|PubMed:19710016; propagated from
                     UniProtKB/Swiss-Prot (P15056.4)"
     CDS             1..766
                     /gene="BRAF"
                     /gene_synonym="B-raf; B-RAF1; BRAF-1; BRAF1; NS7; RAFB1"
                     /coded_by="NM_004333.6:227..2527"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5863.1"
                     /db_xref="GeneID:673"
                     /db_xref="HGNC:HGNC:1097"
                     /db_xref="MIM:164757"
ORIGIN      
        1 maalsggggg gaepgqalfn gdmepeagag agaaassaad paipeevwni kqmikltqeh
       61 iealldkfgg ehnppsiyle ayeeytskld alqqreqqll eslgngtdfs vsssasmdtv
      121 tsssssslsv lpsslsvfqn ptdvarsnpk spqkpivrvf lpnkqrtvvp arcgvtvrds
      181 lkkalmmrgl ipeccavyri qdgekkpigw dtdiswltge elhvevlenv pltthnfvrk
      241 tfftlafcdf crkllfqgfr cqtcgykfhq rcstevplmc vnydqldllf vskffehhpi
      301 pqeeaslaet altsgsspsa pasdsigpqi ltspspsksi pipqpfrpad edhrnqfgqr
      361 drsssapnvh intiepvnid dlirdqgfrg dggsttglsa tppaslpgsl tnvkalqksp
      421 gpqrerksss ssedrnrmkt lgrrdssddw eipdgqitvg qrigsgsfgt vykgkwhgdv
      481 avkmlnvtap tpqqlqafkn evgvlrktrh vnillfmgys tkpqlaivtq wcegsslyhh
      541 lhiietkfem iklidiarqt aqgmdylhak siihrdlksn niflhedltv kigdfglatv
      601 ksrwsgshqf eqlsgsilwm apevirmqdk npysfqsdvy afgivlyelm tgqlpysnin
      661 nrdqiifmvg rgylspdlsk vrsncpkamk rlmaeclkkk rderplfpqi lasiellars
      721 lpkihrsase pslnragfqt edfslyacas pktpiqaggy gafpvh
//
LOCUS       NP_005027                468 aa            linear   PRI 10-APR-2023
DEFINITION  peroxisome proliferator-activated receptor alpha isoform 1 [Homo
            sapiens].
ACCESSION   NP_005027
VERSION     NP_005027.2
DBSOURCE    REFSEQ: accession NM_005036.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 468)
  AUTHORS   Qian Z, Chen L, Liu J, Jiang Y and Zhang Y.
  TITLE     The emerging role of PPAR-alpha in breast cancer
  JOURNAL   Biomed Pharmacother 161, 114420 (2023)
   PUBMED   36812713
  REMARK    GeneRIF: The emerging role of PPAR-alpha in breast cancer.
            Review article
REFERENCE   2  (residues 1 to 468)
  AUTHORS   Lee D, Tomita Y, Negishi K and Kurihara T.
  TITLE     Therapeutic roles of PPARalpha activation in ocular ischemic
            diseases
  JOURNAL   Histol Histopathol 38 (4), 391-401 (2023)
   PUBMED   36305579
  REMARK    GeneRIF: Therapeutic roles of PPARalpha activation in ocular
            ischemic diseases.
            Review article
REFERENCE   3  (residues 1 to 468)
  AUTHORS   Lin Y, Wang Y and Li PF.
  TITLE     PPARalpha: An emerging target of metabolic syndrome,
            neurodegenerative and cardiovascular diseases
  JOURNAL   Front Endocrinol (Lausanne) 13, 1074911 (2022)
   PUBMED   36589809
  REMARK    GeneRIF: PPARalpha: An emerging target of metabolic syndrome,
            neurodegenerative and cardiovascular diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 468)
  AUTHORS   Mukherjee AG, Wanjari UR, Gopalakrishnan AV, Katturajan R,
            Kannampuzha S, Murali R, Namachivayam A, Ganesan R, Renu K, Dey A,
            Vellingiri B and Prince SE.
  TITLE     Exploring the Regulatory Role of ncRNA in NAFLD: A Particular Focus
            on PPARs
  JOURNAL   Cells 11 (24), 3959 (2022)
   PUBMED   36552725
  REMARK    GeneRIF: Exploring the Regulatory Role of ncRNA in NAFLD: A
            Particular Focus on PPARs.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 468)
  AUTHORS   Adamowicz M, Kempinska-Podhorodecka A, Abramczyk J, Banales JM,
            Milkiewicz P and Milkiewicz M.
  TITLE     Suppression of Hepatic PPARalpha in Primary Biliary Cholangitis Is
            Modulated by miR-155
  JOURNAL   Cells 11 (18), 2880 (2022)
   PUBMED   36139455
  REMARK    GeneRIF: Suppression of Hepatic PPARalpha in Primary Biliary
            Cholangitis Is Modulated by miR-155.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 468)
  AUTHORS   Tugwood JD, Aldridge TC, Lambe KG, Macdonald N and Woodyatt NJ.
  TITLE     Peroxisome proliferator-activated receptors: structures and
            function
  JOURNAL   Ann N Y Acad Sci 804, 252-265 (1996)
   PUBMED   8993548
REFERENCE   7  (residues 1 to 468)
  AUTHORS   Chu R, Lin Y, Rao MS and Reddy JK.
  TITLE     Cloning and identification of rat deoxyuridine triphosphatase as an
            inhibitor of peroxisome proliferator-activated receptor alpha
  JOURNAL   J Biol Chem 271 (44), 27670-27676 (1996)
   PUBMED   8910358
REFERENCE   8  (residues 1 to 468)
  AUTHORS   Miyata KS, McCaw SE, Patel HV, Rachubinski RA and Capone JP.
  TITLE     The orphan nuclear hormone receptor LXR alpha interacts with the
            peroxisome proliferator-activated receptor and inhibits peroxisome
            proliferator signaling
  JOURNAL   J Biol Chem 271 (16), 9189-9192 (1996)
   PUBMED   8621574
REFERENCE   9  (residues 1 to 468)
  AUTHORS   Mukherjee R, Jow L, Noonan D and McDonnell DP.
  TITLE     Human and rat peroxisome proliferator activated receptors (PPARs)
            demonstrate similar tissue distribution but different
            responsiveness to PPAR activators
  JOURNAL   J Steroid Biochem Mol Biol 51 (3-4), 157-166 (1994)
   PUBMED   7981125
REFERENCE   10 (residues 1 to 468)
  AUTHORS   Sher T, Yi HF, McBride OW and Gonzalez FJ.
  TITLE     cDNA cloning, chromosomal mapping, and functional characterization
            of the human peroxisome proliferator activated receptor
  JOURNAL   Biochemistry 32 (21), 5598-5604 (1993)
   PUBMED   7684926
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from FP325332.1 and AL078611.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 14, 2000 this sequence version replaced NP_005027.1.
            
            Summary: Peroxisome proliferators include hypolipidemic drugs,
            herbicides, leukotriene antagonists, and plasticizers; this term
            arises because they induce an increase in the size and number of
            peroxisomes. Peroxisomes are subcellular organelles found in plants
            and animals that contain enzymes for respiration and for
            cholesterol and lipid metabolism. The action of peroxisome
            proliferators is thought to be mediated via specific receptors,
            called PPARs, which belong to the steroid hormone receptor
            superfamily. PPARs affect the expression of target genes involved
            in cell proliferation, cell differentiation and in immune and
            inflammation responses. Three closely related subtypes (alpha,
            beta/delta, and gamma) have been identified. This gene encodes the
            subtype PPAR-alpha, which is a nuclear transcription factor.
            Multiple alternatively spliced transcript variants have been
            described for this gene, although the full-length nature of only
            two has been determined. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1660805.45423.1, HQ692862.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1965299, SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000407236.6/ ENSP00000385523.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..468
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.31"
     Protein         1..468
                     /product="peroxisome proliferator-activated receptor alpha
                     isoform 1"
                     /note="peroxisome proliferative activated receptor, alpha;
                     nuclear receptor subfamily 1 group C member 1"
                     /calculated_mol_wt=52094
     Region          101..184
                     /region_name="NR_DBD_Ppar"
                     /note="DNA-binding domain of peroxisome
                     proliferator-activated receptors (PPAR) is composed of two
                     C4-type zinc fingers; cd06965"
                     /db_xref="CDD:143523"
     Site            order(102,105,119,122,138,143,153,156)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143523"
     Site            order(110..114,120..121,123,125,127..128,131,150..151,154,
                     157,168,171..175,177)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143523"
     Site            order(148..149,151..152)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143523"
     Region          201..467
                     /region_name="NR_LBD_PPAR"
                     /note="The ligand binding domain of peroxisome
                     proliferator-activated receptors; cd06932"
                     /db_xref="CDD:132730"
     Site            order(275..276,280,314,318,321,330,332,355,440)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:132730"
     Site            order(285,288,292,297,302..303,305..306,309..310)
                     /site_type="other"
                     /note="coactivator recognition site [polypeptide binding]"
                     /db_xref="CDD:132730"
     Region          304..433
                     /region_name="Required for heterodimerization with RXRA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07869.2)"
     Site            order(364,386,389,398,421,425,428,430..431,434..435,442)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:132730"
     Site            433
                     /site_type="other"
                     /note="Essential for heterodimerization with RXRA;
                     propagated from UniProtKB/Swiss-Prot (Q07869.2)"
     CDS             1..468
                     /gene="PPARA"
                     /gene_synonym="hPPAR; NR1C1; PPAR; PPAR-alpha; PPARalpha"
                     /coded_by="NM_005036.6:337..1743"
                     /note="isoform 1 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS33669.1"
                     /db_xref="GeneID:5465"
                     /db_xref="HGNC:HGNC:9232"
                     /db_xref="MIM:170998"
ORIGIN      
        1 mvdtesplcp lspleagdle splseeflqe mgniqeisqs igedssgsfg fteyqylgsc
       61 pgsdgsvitd tlspasspss vtypvvpgsv despsgalni ecricgdkas gyhygvhace
      121 gckgffrrti rlklvydkcd rsckiqkknr nkcqycrfhk clsvgmshna irfgrmprse
      181 kaklkaeilt cehdiedset adlkslakri yeaylknfnm nkvkarvils gkasnnppfv
      241 ihdmetlcma ektlvaklva ngiqnkeaev rifhccqcts vetvteltef akaipgfanl
      301 dlndqvtllk ygvyeaifam lssvmnkdgm lvaygngfit reflkslrkp fcdimepkfd
      361 famkfnalel ddsdislfva aiiccgdrpg llnvghiekm qegivhvlrl hlqsnhpddi
      421 flfpkllqkm adlrqlvteh aqlvqiikkt esdaalhpll qeiyrdmy
//
LOCUS       NP_001364244             296 aa            linear   PRI 10-APR-2023
DEFINITION  NF-kappa-B essential modulator isoform f [Homo sapiens].
ACCESSION   NP_001364244
VERSION     NP_001364244.1
DBSOURCE    REFSEQ: accession NM_001377315.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 296)
  AUTHORS   Nie Y, Mou L, Long Q, Deng D, Hu R, Cheng J and Wu J.
  TITLE     SARS-CoV-2 ORF3a positively regulates NF-kappaB activity by
            enhancing IKKbeta-NEMO interaction
  JOURNAL   Virus Res 328, 199086 (2023)
   PUBMED   36894068
  REMARK    GeneRIF: SARS-CoV-2 ORF3a positively regulates NF-kappaB activity
            by enhancing IKKbeta-NEMO interaction.
REFERENCE   2  (residues 1 to 296)
  AUTHORS   Yang Z, Pan X, Wu X, Lin Q, Chen Y, Cai S, Zhang Y, Mai Z, Ahmad N,
            Ma D and Deng L.
  TITLE     TREM-1 induces pyroptosis in cardiomyocytes by activating NLRP3
            inflammasome through the SMC4/NEMO pathway
  JOURNAL   FEBS J 290 (6), 1549-1562 (2023)
   PUBMED   36181338
  REMARK    GeneRIF: TREM-1 induces pyroptosis in cardiomyocytes by activating
            NLRP3 inflammasome through the SMC4/NEMO pathway.
REFERENCE   3  (residues 1 to 296)
  AUTHORS   Chen H, Chen X, Zhang Z, Bao W, Gao Z, Li D, Xie X, Zhou P, Yang C,
            Zhou Z, Pan J, Kuang X, Tang R, Feng Z, Zhou L, Zhu D, Yang J, Wang
            L, Huang H, Tang D, Liu J and Jiang L.
  TITLE     Extracellular vesicles-transferred SBSN drives glioma
            aggressiveness by activating NF-kappaB via ANXA1-dependent
            ubiquitination of NEMO
  JOURNAL   Oncogene 41 (49), 5253-5265 (2022)
   PUBMED   36316443
  REMARK    GeneRIF: Extracellular vesicles-transferred SBSN drives glioma
            aggressiveness by activating NF-kappaB via ANXA1-dependent
            ubiquitination of NEMO.
REFERENCE   4  (residues 1 to 296)
  AUTHORS   Lee Y, Wessel AW, Xu J, Reinke JG, Lee E, Kim SM, Hsu AP,
            Zilberman-Rudenko J, Cao S, Enos C, Brooks SR, Deng Z, Lin B, de
            Jesus AA, Hupalo DN, Piotto DG, Terreri MT, Dimitriades VR, Dalgard
            CL, Holland SM, Goldbach-Mansky R, Siegel RM and Hanson EP.
  TITLE     Genetically programmed alternative splicing of NEMO mediates an
            autoinflammatory disease phenotype
  JOURNAL   J Clin Invest 132 (6) (2022)
   PUBMED   35289316
  REMARK    GeneRIF: Genetically programmed alternative splicing of NEMO
            mediates an autoinflammatory disease phenotype.
REFERENCE   5  (residues 1 to 296)
  AUTHORS   Li Y, Kang J, Friedman J, Tarassishin L, Ye J, Kovalenko A, Wallach
            D and Horwitz MS.
  TITLE     Identification of a cell protein (FIP-3) as a modulator of
            NF-kappaB activity and as a target of an adenovirus inhibitor of
            tumor necrosis factor alpha-induced apoptosis
  JOURNAL   Proc Natl Acad Sci U S A 96 (3), 1042-1047 (1999)
   PUBMED   9927690
REFERENCE   6  (residues 1 to 296)
  AUTHORS   Mercurio F, Murray BW, Shevchenko A, Bennett BL, Young DB, Li JW,
            Pascual G, Motiwala A, Zhu H, Mann M and Manning AM.
  TITLE     IkappaB kinase (IKK)-associated protein 1, a common component of
            the heterogeneous IKK complex
  JOURNAL   Mol Cell Biol 19 (2), 1526-1538 (1999)
   PUBMED   9891086
REFERENCE   7  (residues 1 to 296)
  AUTHORS   Rothwarf DM, Zandi E, Natoli G and Karin M.
  TITLE     IKK-gamma is an essential regulatory subunit of the IkappaB kinase
            complex
  JOURNAL   Nature 395 (6699), 297-300 (1998)
   PUBMED   9751060
REFERENCE   8  (residues 1 to 296)
  AUTHORS   Arch RH, Gedrich RW and Thompson CB.
  TITLE     Tumor necrosis factor receptor-associated factors (TRAFs)--a family
            of adapter proteins that regulates life and death
  JOURNAL   Genes Dev 12 (18), 2821-2830 (1998)
   PUBMED   9744859
  REMARK    Review article
REFERENCE   9  (residues 1 to 296)
  AUTHORS   Scheuerle,A.E. and Ursini,M.V.
  TITLE     Incontinentia Pigmenti
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301645
REFERENCE   10 (residues 1 to 296)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC244090.3.
            
            Summary: This gene encodes the regulatory subunit of the inhibitor
            of kappaB kinase (IKK) complex, which activates NF-kappaB resulting
            in activation of genes involved in inflammation, immunity, cell
            survival, and other pathways. Mutations in this gene result in
            incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and
            several other types of immunodeficiencies. A pseudogene highly
            similar to this locus is located in an adjacent region of the X
            chromosome. [provided by RefSeq, Mar 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.662347.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149004, SAMEA2151358
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..296
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..296
                     /product="NF-kappa-B essential modulator isoform f"
                     /note="incontinentia pigmenti; NF-kappa-B essential
                     modulator; ikB kinase subunit gamma; inhibitor of kappa
                     light polypeptide gene enhancer in B-cells, kinase gamma;
                     NF-kappa-B essential modifier; I-kappa-B kinase subunit
                     gamma; ikB kinase-associated protein 1; inhibitor of
                     nuclear factor kappa B kinase subunit gamma; 14.7K
                     (adenovirus E3 protein) interacting protein 3"
                     /calculated_mol_wt=34162
     Site            31
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by IKKB.
                     /evidence=ECO:0000269|PubMed:12657630; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6K9.2)"
     Site            43
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by IKKB.
                     /evidence=ECO:0000269|PubMed:12657630; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6K9.2)"
     Region          44..111
                     /region_name="Interaction with CHUK/IKBKB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6K9.2)"
     Region          44..110
                     /region_name="NEMO"
                     /note="NF-kappa-B essential modulator NEMO; pfam11577"
                     /db_xref="CDD:431942"
     Site            68
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:17977820; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6K9.2)"
     Site            85
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM.
                     /evidence=ECO:0000269|PubMed:16497931; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6K9.2)"
     Region          130..221
                     /region_name="CC2-LZ"
                     /note="Leucine zipper of domain CC2 of NEMO, NF-kappa-B
                     essential modulator; pfam16516"
                     /db_xref="CDD:435391"
     Site            order(136..137,140..141,143..144,147,150..151,154..155,
                     157..158,161,165,168,175,178,181..182,185,188..189,
                     192..193,195..196,199..200,203,207,210,214,217)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:197361"
     Site            order(173,177..178,180..181,184..186,188..189,191..193,
                     196..197,200..201,204)
                     /site_type="other"
                     /note="polyubiquitin binding site [polypeptide binding]"
                     /db_xref="CDD:197361"
     Region          270..295
                     /region_name="zf_C2H2_10"
                     /note="C2H2 type zinc-finger; pfam18414"
                     /db_xref="CDD:436483"
     CDS             1..296
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /coded_by="NM_001377315.1:142..1032"
                     /note="isoform f is encoded by transcript variant 10"
                     /db_xref="GeneID:8517"
                     /db_xref="HGNC:HGNC:5961"
                     /db_xref="MIM:300248"
ORIGIN      
        1 mnrhlwksql cemvqpsggp aadqdvlgee splgkpamlh lpseqgapet lqrcleenqe
       61 lrdairqsnq ilrerceell hfqasqreek eflmckfqea rklverlgle kldlkrqkeq
      121 alrevehlkr cqqgmqledl kqqlqqaeea lvakqevidk lkeeaeqhki vmetvpvlka
      181 qadiykadfq aerqarekla ekkellqeql eqlqreyskl kascqesari edmrkrhvev
      241 sqaplppapa ylssplalps qrrsppeepp dfccpkcqyq apdmdtlqih vmecie
//
LOCUS       NP_001372233             804 aa            linear   PRI 10-APR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase alpha isoform 4
            precursor [Homo sapiens].
ACCESSION   NP_001372233
VERSION     NP_001372233.1
DBSOURCE    REFSEQ: accession NM_001385304.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 804)
  AUTHORS   Fang J, Zhang Y, Huang C, Lu R, Yu J, Chen R, Wang Y, Zhao X, Yu J
            and Huang J.
  TITLE     Glucose-mediated N-glycosylation of RPTPalpha affects its
            subcellular localization and Src activation
  JOURNAL   Oncogene 42 (14), 1058-1071 (2023)
   PUBMED   36765146
  REMARK    GeneRIF: Glucose-mediated N-glycosylation of RPTPalpha affects its
            subcellular localization and Src activation.
REFERENCE   2  (residues 1 to 804)
  AUTHORS   Hill MA, Bentley SR, Walker TL, Mellick GD, Wood SA and Sykes AM.
  TITLE     Does a rare mutation in PTPRA contribute to the development of
            Parkinson's disease in an Australian multi-incident family?
  JOURNAL   PLoS One 17 (7), e0271499 (2022)
   PUBMED   35900966
  REMARK    GeneRIF: Does a rare mutation in PTPRA contribute to the
            development of Parkinson's disease in an Australian multi-incident
            family?
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 804)
  AUTHORS   Xie F, Huang C, Liu F, Zhang H, Xiao X, Sun J, Zhang X and Jiang G.
  TITLE     CircPTPRA blocks the recognition of RNA N6-methyladenosine through
            interacting with IGF2BP1 to suppress bladder cancer progression
  JOURNAL   Mol Cancer 20 (1), 68 (2021)
   PUBMED   33853613
  REMARK    GeneRIF: CircPTPRA blocks the recognition of RNA
            N(6)-methyladenosine through interacting with IGF2BP1 to suppress
            bladder cancer progression.
            Erratum:[Mol Cancer. 2022 Nov 1;21(1):205. PMID: 36316700]
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 804)
  AUTHORS   Decotret LR, Wadsworth BJ, Li LV, Lim CJ, Bennewith KL and Pallen
            CJ.
  TITLE     Receptor-type protein tyrosine phosphatase alpha (PTPalpha)
            mediates MMP14 localization and facilitates triple-negative breast
            cancer cell invasion
  JOURNAL   Mol Biol Cell 32 (7), 567-578 (2021)
   PUBMED   33566639
  REMARK    GeneRIF: Receptor-type protein tyrosine phosphatase alpha
            (PTPalpha) mediates MMP14 localization and facilitates
            triple-negative breast cancer cell invasion.
REFERENCE   5  (residues 1 to 804)
  AUTHORS   Wen Y, Yang S, Wakabayashi K, Svensson MND, Stanford SM, Santelli E
            and Bottini N.
  TITLE     RPTPalpha phosphatase activity is allosterically regulated by the
            membrane-distal catalytic domain
  JOURNAL   J Biol Chem 295 (15), 4923-4936 (2020)
   PUBMED   32139509
  REMARK    GeneRIF: RPTPalpha phosphatase activity is allosterically regulated
            by the membrane-distal catalytic domain.
REFERENCE   6  (residues 1 to 804)
  AUTHORS   Zheng XM, Wang Y and Pallen CJ.
  TITLE     Cell transformation and activation of pp60c-src by overexpression
            of a protein tyrosine phosphatase
  JOURNAL   Nature 359 (6393), 336-339 (1992)
   PUBMED   1383828
REFERENCE   7  (residues 1 to 804)
  AUTHORS   Rao VV, Loffler C, Sap J, Schlessinger J and Hansmann I.
  TITLE     The gene for receptor-linked protein-tyrosine-phosphatase (PTPA) is
            assigned to human chromosome 20p12-pter by in situ hybridization
            (ISH and FISH)
  JOURNAL   Genomics 13 (3), 906-907 (1992)
   PUBMED   1639427
REFERENCE   8  (residues 1 to 804)
  AUTHORS   Jirik FR, Anderson LL and Duncan AM.
  TITLE     The human protein-tyrosine phosphatase PTP alpha/LRP gene (PTPA) is
            assigned to chromosome 20p13
  JOURNAL   Cytogenet Cell Genet 60 (2), 117-118 (1992)
   PUBMED   1611910
REFERENCE   9  (residues 1 to 804)
  AUTHORS   Kaplan R, Morse B, Huebner K, Croce C, Howk R, Ravera M, Ricca G,
            Jaye M and Schlessinger J.
  TITLE     Cloning of three human tyrosine phosphatases reveals a multigene
            family of receptor-linked protein-tyrosine-phosphatases expressed
            in brain
  JOURNAL   Proc Natl Acad Sci U S A 87 (18), 7000-7004 (1990)
   PUBMED   2169617
REFERENCE   10 (residues 1 to 804)
  AUTHORS   Sap J, D'Eustachio P, Givol D and Schlessinger J.
  TITLE     Cloning and expression of a widely expressed receptor tyrosine
            phosphatase
  JOURNAL   Proc Natl Acad Sci U S A 87 (16), 6112-6116 (1990)
   PUBMED   2166945
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161656.20 and AL121905.23.
            
            Summary: The protein encoded by this gene is a member of the
            protein tyrosine phosphatase (PTP) family. PTPs are known to be
            signaling molecules that regulate a variety of cellular processes
            including cell growth, differentiation, mitotic cycle, and
            oncogenic transformation. This PTP contains an extracellular
            domain, a single transmembrane segment and two tandem
            intracytoplasmic catalytic domains, and thus represents a
            receptor-type PTP. This PTP has been shown to dephosphorylate and
            activate Src family tyrosine kinases, and is implicated in the
            regulation of integrin signaling, cell adhesion and proliferation.
            Three alternatively spliced variants of this gene, which encode two
            distinct isoforms, have been reported. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.1602484.1,
                                           SRR14038196.3468945.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..804
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     Protein         1..804
                     /product="receptor-type tyrosine-protein phosphatase alpha
                     isoform 4 precursor"
                     /EC_number="3.1.3.48"
                     /note="protein tyrosine phosphatase, receptor type, alpha
                     polypeptide; PTPase-alpha; Leukocyte common
                     antigen-related peptide (protein tyrosine phosphate);
                     tyrosine phosphatase alpha; PTPLCA-related phosphatase;
                     receptor-type tyrosine-protein phosphatase alpha;
                     protein-tyrosine phosphatase alpha"
                     /calculated_mol_wt=87697
     sig_peptide     1..30
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3227
     Region          216..511
                     /region_name="R-PTPc-A-1"
                     /note="catalytic domain of receptor-type tyrosine-protein
                     phosphatase A, repeat 1; cd14621"
                     /db_xref="CDD:350469"
     Region          565..792
                     /region_name="R-PTPc-A-2"
                     /note="catalytic domain of receptor-type tyrosine-protein
                     phosphatase A, repeat 2; cd14623"
                     /db_xref="CDD:350471"
     CDS             1..804
                     /gene="PTPRA"
                     /gene_synonym="HEPTP; HLPR; HPTPA; HPTPalpha; LRP; PTPA;
                     PTPRL2; R-PTP-alpha; RPTPA"
                     /coded_by="NM_001385304.1:333..2747"
                     /note="isoform 4 precursor is encoded by transcript
                     variant 6"
                     /db_xref="GeneID:5786"
                     /db_xref="HGNC:HGNC:9664"
                     /db_xref="MIM:176884"
ORIGIN      
        1 mddavqitki smdswfilvl lgsglicvsa nnattvapsv gitrlinsst aepvkeeakt
       61 snptssltsl svaptfspni tlgptylttv nssdsdngtt rtastnsigi tispngtwlp
      121 dnqftdarte pwegnsstaa ttpetfppsd etpiiavmva lssllvivfi iivlymlrfk
      181 kykqagshsn sfrlsngrte dvepqsvpll arspstnrky pplpvdklee einrrmaddn
      241 klfreefnal pacpiqatce aaskeenkek nryvnilpyd hsrvhltpve gvpdsdyina
      301 sfingyqekn kfiaaqgpke etvndfwrmi weqntativm vtnlkerkec kcaqywpdqg
      361 cwtygnirvs vedvtvlvdy tvrkfciqqv gdmtnrkpqr litqfhftsw pdfgvpftpi
      421 gmlkflkkvk acnpqyagai vvhcsagvgr tgtfvvidam ldmmhterkv dvygfvsrir
      481 aqrcqmvqtd mqyvfiyqal lehylygdte levtslethl qkiynkipgt snngleeefk
      541 kltsikiqnd kmrtgnlpan mkknrvlqii pyefnrviip vkrgeentdy vnasfidgyr
      601 qkdsyiasqg pllhtiedfw rmiwewkscs ivmlteleer gqekcaqywp sdglvsygdi
      661 tvelkkeeec esytvrdllv tntrenksrq irqfhfhgwp evgipsdgkg misiiaavqk
      721 qqqqsgnhpi tvhcsagagr tgtfcalstv lervkaegil dvfqtvkslr lqrphmvqtl
      781 eqyefcykvv qeyidafsdy anfk
//
LOCUS       NP_002309                774 aa            linear   PRI 17-APR-2023
DEFINITION  lysyl oxidase homolog 2 precursor [Homo sapiens].
ACCESSION   NP_002309
VERSION     NP_002309.1
DBSOURCE    REFSEQ: accession NM_002318.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 774)
  AUTHORS   Li B, Liang A, Zhou Y, Huang Y, Liao C, Zhang X and Gong Q.
  TITLE     Hypoxia preconditioned DPSC-derived exosomes regulate angiogenesis
            via transferring LOXL2
  JOURNAL   Exp Cell Res 425 (2), 113543 (2023)
   PUBMED   36894050
  REMARK    GeneRIF: Hypoxia preconditioned DPSC-derived exosomes regulate
            angiogenesis via transferring LOXL2.
REFERENCE   2  (residues 1 to 774)
  AUTHORS   Zhang X, Wu X, Sun Y, Chu Y, Liu F and Chen C.
  TITLE     TRIM44 regulates tumor immunity in gastric cancer through
            LOXL2-dependent extracellular matrix remodeling
  JOURNAL   Cell Oncol (Dordr) 46 (2), 423-435 (2023)
   PUBMED   36512309
  REMARK    GeneRIF: TRIM44 regulates tumor immunity in gastric cancer through
            LOXL2-dependent extracellular matrix remodeling.
REFERENCE   3  (residues 1 to 774)
  AUTHORS   Gong L, Zhang Y, Yang Y, Yan Q, Ren J, Luo J, Tiu YC, Fang X, Liu
            B, Lam RHW, Lam KO, Lee AW and Guan XY.
  TITLE     Inhibition of lysyl oxidase-like 2 overcomes adhesion-dependent
            drug resistance in the collagen-enriched liver cancer
            microenvironment
  JOURNAL   Hepatol Commun 6 (11), 3194-3211 (2022)
   PUBMED   35894804
  REMARK    GeneRIF: Inhibition of lysyl oxidase-like 2 overcomes
            adhesion-dependent drug resistance in the collagen-enriched liver
            cancer microenvironment.
REFERENCE   4  (residues 1 to 774)
  AUTHORS   Wang X, Wu S, Yang Y and Zhao J.
  TITLE     LncRNA CARMN Affects Hepatocellular Carcinoma Prognosis by
            Regulating the miR-192-5p/LOXL2 Axis
  JOURNAL   Oxid Med Cell Longev 2022, 9277360 (2022)
   PUBMED   36254230
  REMARK    GeneRIF: LncRNA CARMN Affects Hepatocellular Carcinoma Prognosis by
            Regulating the miR-192-5p/LOXL2 Axis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 774)
  AUTHORS   Tan JD, Zhou MF, Yang S and Lin JP.
  TITLE     Long noncoding RNA HCP5 promotes osteosarcoma cell proliferation,
            invasion, and migration via the miR-29b-3p-LOXL2 axis
  JOURNAL   Kaohsiung J Med Sci 38 (10), 960-970 (2022)
   PUBMED   35899856
  REMARK    GeneRIF: Long noncoding RNA HCP5 promotes osteosarcoma cell
            proliferation, invasion, and migration via the miR-29b-3p-LOXL2
            axis.
REFERENCE   6  (residues 1 to 774)
  AUTHORS   Hein S, Yamamoto SY, Okazaki K, Jourdan-LeSaux C, Csiszar K and
            Bryant-Greenwood GD.
  TITLE     Lysyl oxidases: expression in the fetal membranes and placenta
  JOURNAL   Placenta 22 (1), 49-57 (2001)
   PUBMED   11162352
REFERENCE   7  (residues 1 to 774)
  AUTHORS   Csiszar K.
  TITLE     Lysyl oxidases: a novel multifunctional amine oxidase family
  JOURNAL   Prog Nucleic Acid Res Mol Biol 70, 1-32 (2001)
   PUBMED   11642359
  REMARK    Review article
REFERENCE   8  (residues 1 to 774)
  AUTHORS   Jourdan-Le Saux C, Tronecker H, Bogic L, Bryant-Greenwood GD, Boyd
            CD and Csiszar K.
  TITLE     The LOXL2 gene encodes a new lysyl oxidase-like protein and is
            expressed at high levels in reproductive tissues
  JOURNAL   J Biol Chem 274 (18), 12939-12944 (1999)
   PUBMED   10212285
REFERENCE   9  (residues 1 to 774)
  AUTHORS   Jourdan-Le Saux C, Le Saux O, Donlon T, Boyd CD and Csiszar K.
  TITLE     The human lysyl oxidase-related gene (LOXL2) maps between markers
            D8S280 and D8S278 on chromosome 8p21.2-p21.3
  JOURNAL   Genomics 51 (2), 305-307 (1998)
   PUBMED   9722957
REFERENCE   10 (residues 1 to 774)
  AUTHORS   Saito H, Papaconstantinou J, Sato H and Goldstein S.
  TITLE     Regulation of a novel gene encoding a lysyl oxidase-related protein
            in cellular adhesion and senescence
  JOURNAL   J Biol Chem 272 (13), 8157-8160 (1997)
   PUBMED   9079631
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104561.3, U89942.1,
            BC020481.1 and AC090197.23.
            
            Summary: This gene encodes a member of the lysyl oxidase gene
            family. The prototypic member of the family is essential to the
            biogenesis of connective tissue, encoding an extracellular
            copper-dependent amine oxidase that catalyses the first step in the
            formation of crosslinks in collagens and elastin. A highly
            conserved amino acid sequence at the C-terminus end appears to be
            sufficient for amine oxidase activity, suggesting that each family
            member may retain this function. The N-terminus is poorly conserved
            and may impart additional roles in developmental regulation,
            senescence, tumor suppression, cell growth control, and chemotaxis
            to each member of the family. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK222477.1, AK312266.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000389131.8/ ENSP00000373783.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..774
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     Protein         1..774
                     /product="lysyl oxidase homolog 2 precursor"
                     /EC_number="1.4.3.-"
                     /note="lysyl oxidase related 2; lysyl oxidase homolog 2;
                     lysyl oxidase-related protein 2; lysyl oxidase-related
                     protein WS9-14; lysyl oxidase-like protein 2; lysyl
                     oxidase-like 2 delta e13; lysyl oxidase-like 2 protein"
                     /calculated_mol_wt=84070
     sig_peptide     1..25
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2673
     mat_peptide     26..774
                     /product="lysyl oxidase homolog 2"
                     /calculated_mol_wt=84070
     Region          58..159
                     /region_name="SR"
                     /note="Scavenger receptor Cys-rich; smart00202"
                     /db_xref="CDD:214555"
     Region          196..301
                     /region_name="SR"
                     /note="Scavenger receptor Cys-rich; smart00202"
                     /db_xref="CDD:214555"
     Site            288
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4K0.1)"
     Region          326..425
                     /region_name="SR"
                     /note="Scavenger receptor Cys-rich; smart00202"
                     /db_xref="CDD:214555"
     Region          435..544
                     /region_name="SR"
                     /note="Scavenger receptor Cys-rich; smart00202"
                     /db_xref="CDD:214555"
     Site            455
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:23319596; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4K0.1)"
     Region          548..751
                     /region_name="Lysyl-oxidase like"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4K0.1)"
     Region          548..746
                     /region_name="Lysyl_oxidase"
                     /note="Lysyl oxidase; pfam01186"
                     /db_xref="CDD:426108"
     Site            644
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:23319596,
                     ECO:0000269|PubMed:29581294, ECO:0007744|PDB:5ZE3;
                     propagated from UniProtKB/Swiss-Prot (Q9Y4K0.1)"
     CDS             1..774
                     /gene="LOXL2"
                     /gene_synonym="LOR; LOR2; WS9-14"
                     /coded_by="NM_002318.3:251..2575"
                     /db_xref="CCDS:CCDS34864.1"
                     /db_xref="GeneID:4017"
                     /db_xref="HGNC:HGNC:6666"
                     /db_xref="MIM:606663"
ORIGIN      
        1 merplcshlc sclamlalls plslaqydsw phypeyfqqp apeyhqpqap anvakiqlrl
       61 agqkrkhseg rvevyydgqw gtvcdddfsi haahvvcrel gyveakswta sssygkgegp
      121 iwldnlhctg neatlaacts ngwgvtdckh tedvgvvcsd kripgfkfdn slinqienln
      181 iqvedirira ilstyrkrtp vmegyvevke gktwkqicdk hwtaknsrvv cgmfgfpger
      241 tyntkvykmf asrrkqrywp fsmdctgtea hisscklgpq vsldpmknvt cenglpavvs
      301 cvpgqvfspd gpsrfrkayk peqplvrlrg gayigegrve vlkngewgtv cddkwdlvsa
      361 svvcrelgfg sakeavtgsr lgqgigpihl neiqctgnek siidckfnae sqgcnheeda
      421 gvrcntpamg lqkklrlngg rnpyegrvev lverngslvw gmvcgqnwgi veamvvcrql
      481 glgfasnafq etwywhgdvn snkvvmsgvk csgtelslah crhdgedvac pqggvqygag
      541 vacsetapdl vlnaemvqqt tyledrpmfm lqcameencl sasaaqtdpt tgyrrllrfs
      601 sqihnngqsd frpkngrhaw iwhdchrhyh smevfthydl lnlngtkvae ghkasfcled
      661 tecegdiqkn yecanfgdqg itmgcwdmyr hdidcqwvdi tdvppgdylf qvvinpnfev
      721 aesdysnnim kcrsrydghr iwmynchigg sfseetekkf ehfsgllnnq lspq
//
LOCUS       NP_001171657             522 aa            linear   PRI 17-DEC-2022
DEFINITION  GPI transamidase component PIG-T isoform 2 precursor [Homo
            sapiens].
ACCESSION   NP_001171657
VERSION     NP_001171657.1
DBSOURCE    REFSEQ: accession NM_001184728.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 522)
  AUTHORS   Wu F, Goldenberg PC and Mukai S.
  TITLE     Bilateral anterior segment dysgenesis and peripheral avascular
            retina with tractional retinal detachment in an infant with
            multiple congenital anomalies-hypotony-seizures syndrome 3
  JOURNAL   Ophthalmic Genet 42 (3), 334-337 (2021)
   PUBMED   33620284
  REMARK    GeneRIF: Bilateral anterior segment dysgenesis and peripheral
            avascular retina with tractional retinal detachment in an infant
            with multiple congenital anomalies-hypotony-seizures syndrome 3.
REFERENCE   2  (residues 1 to 522)
  AUTHORS   Jezela-Stanek A, Szczepanik E, Mierzewska H, Rydzanicz M, Rutkowska
            K, Knaus A, Smigiel R, Stepniak I, Markiewicz MG, Boniel S, Krawitz
            P and Ploski R.
  TITLE     Evidence of the milder phenotypic spectrum of c.1582G>A PIGT
            variant: Delineation based on seven novel Polish patients
  JOURNAL   Clin Genet 98 (5), 468-476 (2020)
   PUBMED   32725661
  REMARK    GeneRIF: Evidence of the milder phenotypic spectrum of c.1582G>A
            PIGT variant: Delineation based on seven novel Polish patients.
REFERENCE   3  (residues 1 to 522)
  AUTHORS   Kohashi K, Ishiyama A, Yuasa S, Tanaka T, Miya K, Adachi Y, Sato N,
            Saitsu H, Ohba C, Matsumoto N, Murakami Y, Kinoshita T, Sugai K and
            Sasaki M.
  TITLE     Epileptic apnea in a patient with inherited
            glycosylphosphatidylinositol anchor deficiency and PIGT mutations
  JOURNAL   Brain Dev 40 (1), 53-57 (2018)
   PUBMED   28728837
  REMARK    GeneRIF: Whole-exome sequencing revealed compound heterozygous
            mutations (c.250G > T, p.Glu84X and c.1096G > T, p.Gly366Trp) in
            PIGT (NM_015937.5), which were confirmed using Sanger sequencing.
            Thus inherited GPI anchor deficiency associated with these PIGT
            mutations was diagnosed
REFERENCE   4  (residues 1 to 522)
  AUTHORS   Pagnamenta AT, Murakami Y, Taylor JM, Anzilotti C, Howard MF,
            Miller V, Johnson DS, Tadros S, Mansour S, Temple IK, Firth R,
            Rosser E, Harrison RE, Kerr B, Popitsch N, Kinoshita T, Taylor JC
            and Kini U.
  CONSRTM   DDD Study
  TITLE     Analysis of exome data for 4293 trios suggests GPI-anchor
            biogenesis defects are a rare cause of developmental disorders
  JOURNAL   Eur J Hum Genet 25 (6), 669-679 (2017)
   PUBMED   28327575
  REMARK    GeneRIF: PIGT-knockout HEK293 cells showed that p.(E237Q) results
            in a small reduction in the amount of CD59 anchored to the cell
            membrane.
REFERENCE   5  (residues 1 to 522)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (residues 1 to 522)
  AUTHORS   Ohishi K, Nagamune K, Maeda Y and Kinoshita T.
  TITLE     Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and
            PIG-T, form a functionally important intermolecular disulfide
            bridge
  JOURNAL   J Biol Chem 278 (16), 13959-13967 (2003)
   PUBMED   12582175
  REMARK    GeneRIF: GPI8 and PIG-T form a functionally important
            intermolecular disulfide bridge
REFERENCE   7  (residues 1 to 522)
  AUTHORS   Vainauskas S, Maeda Y, Kurniawan H, Kinoshita T and Menon AK.
  TITLE     Structural requirements for the recruitment of Gaa1 into a
            functional glycosylphosphatidylinositol transamidase complex
  JOURNAL   J Biol Chem 277 (34), 30535-30542 (2002)
   PUBMED   12052837
REFERENCE   8  (residues 1 to 522)
  AUTHORS   Ohishi K, Inoue N and Kinoshita T.
  TITLE     PIG-S and PIG-T, essential for GPI anchor attachment to proteins,
            form a complex with GAA1 and GPI8
  JOURNAL   EMBO J 20 (15), 4088-4098 (2001)
   PUBMED   11483512
REFERENCE   9  (residues 1 to 522)
  AUTHORS   Fossey SC, Mychaleckyj JC, Pendleton JK, Snyder JR, Bensen JT,
            Hirakawa S, Rich SS, Freedman BI and Bowden DW.
  TITLE     A high-resolution 6.0-megabase transcript map of the type 2
            diabetes susceptibility region on human chromosome 20
  JOURNAL   Genomics 76 (1-3), 45-57 (2001)
   PUBMED   11549316
REFERENCE   10 (residues 1 to 522)
  AUTHORS   Ploug M, Ronne E, Behrendt N, Jensen AL, Blasi F and Dano K.
  TITLE     Cellular receptor for urokinase plasminogen activator.
            Carboxyl-terminal processing and membrane anchoring by
            glycosyl-phosphatidylinositol
  JOURNAL   J Biol Chem 266 (3), 1926-1933 (1991)
   PUBMED   1846368
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC399420.1, AK296139.1 and
            AL121742.1.
            
            Summary: This gene encodes a protein that is involved in
            glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The
            GPI-anchor is a glycolipid found on many blood cells and serves to
            anchor proteins to the cell surface. This protein is an essential
            component of the multisubunit enzyme, GPI transamidase. GPI
            transamidase mediates GPI anchoring in the endoplasmic reticulum,
            by catalyzing the transfer of fully assembled GPI units to
            proteins. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, May 2012].
            
            Transcript Variant: This variant (2) lacks an exon in the coding
            region, but maintains the reading frame, compared to variant 1. The
            encoded isoform (2) is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296139.1, DRR138513.2320.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..522
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     Protein         1..522
                     /product="GPI transamidase component PIG-T isoform 2
                     precursor"
                     /note="neurotrophin-regulated neuronal
                     development-associated protein; GPI transamidase subunit;
                     GPI transamidase component PIG-T;
                     phosphatidylinositol-glycan biosynthesis class T protein"
                     /calculated_mol_wt=57489
     sig_peptide     1..21
                     /calculated_mol_wt=2111
     mat_peptide     22..522
                     /product="GPI transamidase component PIG-T isoform 2"
                     /calculated_mol_wt=57489
     Region          32..509
                     /region_name="Gpi16"
                     /note="Gpi16 subunit, GPI transamidase component;
                     pfam04113"
                     /db_xref="CDD:427719"
     CDS             1..522
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /coded_by="NM_001184728.3:17..1585"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS54464.1"
                     /db_xref="GeneID:51604"
                     /db_xref="HGNC:HGNC:14938"
                     /db_xref="MIM:610272"
ORIGIN      
        1 maaamplall vllllgpggw claepprdsl reelvitplp sgdvaatfqf rtrwdselqr
       61 egvshyrlfp kalgqlisky slrelhlsft qgfwrtrywg ppflqapsdt dhyflryavl
      121 prevvctenl tpwkkllpcs skaglsvllk adrlfhtsyh sqavhirpvc rnarctsisw
      181 elrqtlsvvf dafitgqgkk dwslfrmfsr tltepcplas esrvyvditt ynqdnetlev
      241 hppptttyqd vilgtrktya iydlldtami nnsrnlniql kwkrppenea ppvpflhaqr
      301 yvsgyglqkg elstllynth pyrafpvlll dtvpwylrly vhtltitskg kenkpsyihy
      361 qpaqdrlqph llemliqlpa nsvtkvsiqf erallkwtey tpdpnhgfyv spsvlsalvp
      421 smvaakpvdw eesplfnslf pvsdgsnyfv rlytepllvn lptpdfsmpy nvicltctvv
      481 avcygsfynl ltrtfhieep rtgglakrla nlirrargvp pl
//
LOCUS       NP_001093589             346 aa            linear   PRI 26-DEC-2022
DEFINITION  DNA repair protein XRCC3 [Homo sapiens].
ACCESSION   NP_001093589
VERSION     NP_001093589.1
DBSOURCE    REFSEQ: accession NM_001100119.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 346)
  AUTHORS   Tan SC, Low TY, Hussain HMJ, Sharzehan MAK, Sito H, Kord-Varkaneh H
            and Islam MA.
  TITLE     Association between XRCC3 p.Thr241Met polymorphism and risk of
            glioma: A systematic review and meta-analysis
  JOURNAL   PLoS One 17 (10), e0276313 (2022)
   PUBMED   36264998
  REMARK    GeneRIF: Association between XRCC3 p.Thr241Met polymorphism and
            risk of glioma: A systematic review and meta-analysis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 346)
  AUTHORS   Hu S, Jing Y, Liu F and Han F.
  TITLE     Association between XRCC3 rs861539 Polymorphism and the Risk of
            Ovarian Cancer: Meta-Analysis and Trial Sequential Analysis
  JOURNAL   Biomed Res Int 2022, 3915402 (2022)
   PUBMED   35978646
  REMARK    GeneRIF: Association between XRCC3 rs861539 Polymorphism and the
            Risk of Ovarian Cancer: Meta-Analysis and Trial Sequential
            Analysis.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 346)
  AUTHORS   Soylemez E, Ozcagli E, Korkmaz S, Tok OE, Aydin MS and Omurtag GZ.
  TITLE     The association of oxidative stress and DNA damage with XRCC1 and
            XRCC3 polymorphisms in radiology technicians
  JOURNAL   Toxicol Ind Health 38 (2), 70-79 (2022)
   PUBMED   35191782
  REMARK    GeneRIF: The association of oxidative stress and DNA damage with
            XRCC1 and XRCC3 polymorphisms in radiology technicians.
REFERENCE   4  (residues 1 to 346)
  AUTHORS   Alsagaby S, Ahmed AA, Rasheed Z, Althwab SA, Aljohani ASM,
            Alhumaydhi FA, Alhomaidan HT, Alkhamiss AS, Alkhowailed M, Alaqeel
            A, Alblihed MA, Alrehaili J, Fernandez N and Abdulmonem WA.
  TITLE     Association of genetic polymorphisms in DNA repair genes ERCC2
            Asp312Asn (rs1799793), ERCC2 Lys 751 Gln (rs13181), XRCC1 Arg399
            Gln (rs25487) and XRCC3 Thr 241Met (rs861539) with the
            susceptibility of lung cancer in Saudi population
  JOURNAL   Nucleosides Nucleotides Nucleic Acids 41 (5-6), 530-554 (2022)
   PUBMED   35319340
  REMARK    GeneRIF: Association of genetic polymorphisms in DNA repair genes
            ERCC2 Asp312Asn (rs1799793), ERCC2 Lys 751 Gln (rs13181), XRCC1
            Arg399 Gln (rs25487) and XRCC3 Thr 241Met (rs861539) with the
            susceptibility of lung cancer in Saudi population.
REFERENCE   5  (residues 1 to 346)
  AUTHORS   Niu H, Yang J and Chen X.
  TITLE     Associations of rs1799794 and rs1799796 polymorphisms with risk of
            breast cancer: A meta-analysis
  JOURNAL   J Cancer Res Ther 17 (5), 1225-1233 (2021)
   PUBMED   34850771
  REMARK    GeneRIF: Associations of rs1799794 and rs1799796 polymorphisms with
            risk of breast cancer: A meta-analysis.
REFERENCE   6  (residues 1 to 346)
  AUTHORS   Liu N, Lamerdin JE, Tebbs RS, Schild D, Tucker JD, Shen MR,
            Brookman KW, Siciliano MJ, Walter CA, Fan W, Narayana LS, Zhou ZQ,
            Adamson AW, Sorensen KJ, Chen DJ, Jones NJ and Thompson LH.
  TITLE     XRCC2 and XRCC3, new human Rad51-family members, promote chromosome
            stability and protect against DNA cross-links and other damages
  JOURNAL   Mol Cell 1 (6), 783-793 (1998)
   PUBMED   9660962
REFERENCE   7  (residues 1 to 346)
  AUTHORS   Dosanjh MK, Collins DW, Fan W, Lennon GG, Albala JS, Shen Z and
            Schild D.
  TITLE     Isolation and characterization of RAD51C, a new human member of the
            RAD51 family of related genes
  JOURNAL   Nucleic Acids Res 26 (5), 1179-1184 (1998)
   PUBMED   9469824
REFERENCE   8  (residues 1 to 346)
  AUTHORS   Price EA, Bourne SL, Radbourne R, Lawton PA, Lamerdin J, Thompson
            LH and Arrand JE.
  TITLE     Rare microsatellite polymorphisms in the DNA repair genes XRCC1,
            XRCC3 and XRCC5 associated with cancer in patients of varying
            radiosensitivity
  JOURNAL   Somat Cell Mol Genet 23 (4), 237-247 (1997)
   PUBMED   9542526
REFERENCE   9  (residues 1 to 346)
  AUTHORS   Tebbs RS, Zhao Y, Tucker JD, Scheerer JB, Siciliano MJ, Hwang M,
            Liu N, Legerski RJ and Thompson LH.
  TITLE     Correction of chromosomal instability and sensitivity to diverse
            mutagens by a cloned cDNA of the XRCC3 DNA repair gene
  JOURNAL   Proc Natl Acad Sci U S A 92 (14), 6354-6358 (1995)
   PUBMED   7603995
REFERENCE   10 (residues 1 to 346)
  AUTHORS   Kopecny,J.
  TITLE     [Rational approaches to the treatment of urinary incontinence
            (author's transl)]
  JOURNAL   Cesk Gynekol 41 (6), 408-409 (1976)
   PUBMED   975276
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB041321.1, AK022829.1,
            BX161398.1 and BC002949.1.
            
            Summary: This gene encodes a member of the RecA/Rad51-related
            protein family that participates in homologous recombination to
            maintain chromosome stability and repair DNA damage. This gene
            functionally complements Chinese hamster irs1SF, a repair-deficient
            mutant that exhibits hypersensitivity to a number of different
            DNA-damaging agents and is chromosomally unstable. A rare
            microsatellite polymorphism in this gene is associated with cancer
            in patients of varying radiosensitivity. Alternatively spliced
            transcript variants encoding the same protein have been identified.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2, 3, 4, 5 and 6 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AF035586.1, SRR1163657.437812.1
                                    [ECO:0000331]
            RNAseq introns       :: partial sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..346
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.33"
     Protein         1..346
                     /product="DNA repair protein XRCC3"
                     /note="X-ray repair cross-complementing protein 3; X-ray
                     repair complementing defective repair in Chinese hamster
                     cells 3"
                     /calculated_mol_wt=37719
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O43542.1)"
     Region          89..325
                     /region_name="XRCC3"
                     /note="XRCC3 recombinase; cd19491"
                     /db_xref="CDD:410899"
     Site            order(110..115,143,213,258,300)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:410899"
     CDS             1..346
                     /gene="XRCC3"
                     /gene_synonym="CMM6"
                     /coded_by="NM_001100119.2:383..1423"
                     /db_xref="CCDS:CCDS9984.1"
                     /db_xref="GeneID:7517"
                     /db_xref="HGNC:HGNC:12830"
                     /db_xref="MIM:600675"
ORIGIN      
        1 mdldlldlnp riiaaikkak lksvkevlhf sgpdlkrltn lsspevwhll rtaslhlrgs
       61 siltalqlhq qkerfptqhq rlslgcpvld allrgglpld gitelagrss agktqlalql
      121 clavqfprqh ggleagavyi ctedafphkr lqqlmaqqpr lrtdvpgell qklrfgsqif
      181 iehvadvdtl lecvnkkvpv llsrgmarlv vidsvaapfr cefdsqasap rarhlqslga
      241 tlrelssafq spvlcinqvt eameeqgaah gplgfwderv spalgitwan qllvrlladr
      301 lreeeaalgc partlrvlsa phlppsscsy tisaegvrgt pgtqsh
//
LOCUS       NP_001129135             179 aa            linear   PRI 27-DEC-2022
DEFINITION  ras-related protein Rab-7L1 isoform 2 [Homo sapiens].
ACCESSION   NP_001129135
VERSION     NP_001129135.1
DBSOURCE    REFSEQ: accession NM_001135663.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 179)
  AUTHORS   Nagai-Ito Y, Xu L, Ito K, Kajihara Y, Ito G and Tomita T.
  TITLE     The atypical Rab GTPase associated with Parkinson's disease, Rab29,
            is localized to membranes
  JOURNAL   J Biol Chem 298 (10), 102499 (2022)
   PUBMED   36116551
  REMARK    GeneRIF: The atypical Rab GTPase associated with Parkinson's
            disease, Rab29, is localized to membranes.
REFERENCE   2  (residues 1 to 179)
  AUTHORS   Wang L, Zhang T, Jiang K, He J, Liu D, Gao H and Chen G.
  TITLE     Expression of RAB7L1 in Patients with Pituitary Adenomas
  JOURNAL   Ann Clin Lab Sci 51 (2), 190-197 (2021)
   PUBMED   33941558
  REMARK    GeneRIF: Expression of RAB7L1 in Patients with Pituitary Adenomas.
REFERENCE   3  (residues 1 to 179)
  AUTHORS   Rivero-Rios P, Romo-Lozano M, Fernandez B, Fdez E and Hilfiker S.
  TITLE     Distinct Roles for RAB10 and RAB29 in Pathogenic LRRK2-Mediated
            Endolysosomal Trafficking Alterations
  JOURNAL   Cells 9 (7), 1719 (2020)
   PUBMED   32709066
  REMARK    GeneRIF: Distinct Roles for RAB10 and RAB29 in Pathogenic
            LRRK2-Mediated Endolysosomal Trafficking Alterations.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 179)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 179)
  AUTHORS   Liu TW, Wu YR, Chen YC, Fung HC and Chen CM.
  TITLE     Association of RIT2 and RAB7L1 with Parkinson's disease: a
            case-control study in a Taiwanese cohort and a meta-analysis in
            Asian populations
  JOURNAL   Neurobiol Aging 87, 140 (2020)
   PUBMED   31818509
  REMARK    GeneRIF: Association of RIT2 and RAB7L1 with Parkinson's disease: a
            case-control study in a Taiwanese cohort and a meta-analysis in
            Asian populations.
REFERENCE   6  (residues 1 to 179)
  AUTHORS   Berger KL, Cooper JD, Heaton NS, Yoon R, Oakland TE, Jordan TX,
            Mateu G, Grakoui A and Randall G.
  TITLE     Roles for endocytic trafficking and phosphatidylinositol 4-kinase
            III alpha in hepatitis C virus replication
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7577-7582 (2009)
   PUBMED   19376974
REFERENCE   7  (residues 1 to 179)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   8  (residues 1 to 179)
  AUTHORS   Lehner B and Sanderson CM.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   9  (residues 1 to 179)
  AUTHORS   Helip-Wooley A and Thoene JG.
  TITLE     Sucrose-induced vacuolation results in increased expression of
            cholesterol biosynthesis and lysosomal genes
  JOURNAL   Exp Cell Res 292 (1), 89-100 (2004)
   PUBMED   14720509
REFERENCE   10 (residues 1 to 179)
  AUTHORS   Shimizu F, Katagiri T, Suzuki M, Watanabe TK, Okuno S, Kuga Y,
            Nagata M, Fujiwara T, Nakamura Y and Takahashi E.
  TITLE     Cloning and chromosome assignment to 1q32 of a human cDNA (RAB7L1)
            encoding a small GTP-binding protein, a member of the RAS
            superfamily
  JOURNAL   Cytogenet Cell Genet 77 (3-4), 261-263 (1997)
   PUBMED   9284931
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA284582.1, DC314882.1, AK303879.1, AC119673.3 and CF528995.1.
            
            Transcript Variant: This variant (3) has an additional segment in
            the 5' UTR and lacks an in-frame coding exon, as compared to
            variant 1. The resulting isoform (2) lacks an internal segment, as
            compared to isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.226042.1,
                                           SRR1803613.231129.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..179
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     Protein         1..179
                     /product="ras-related protein Rab-7L1 isoform 2"
                     /note="ras-related protein Rab-7L1; rab-7-like protein 1;
                     RAB7, member RAS oncogene family-like 1; ras-related
                     protein Rab-29"
                     /calculated_mol_wt=20121
     Region          8..179
                     /region_name="Rab32_Rab38"
                     /note="Rab GTPase families 18 (Rab18) and 32 (Rab32);
                     cd04107"
                     /db_xref="CDD:206692"
     Site            8..9
                     /site_type="other"
                     /note="Rab subfamily motif 1 (RabSF1)"
                     /db_xref="CDD:206692"
     Site            14..21
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206692"
     Site            order(16..22,32..33,38..39,42,101..102,104,131..133)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206692"
     Site            order(22..33,37..38)
                     /site_type="other"
                     /note="Rab subfamily motif 2 (RabSF2)"
                     /db_xref="CDD:206692"
     Site            39
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206692"
     Site            order(42,44..54)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206692"
     Site            45..50
                     /site_type="other"
                     /note="Rab family motif 3 (RabF3)"
                     /db_xref="CDD:206692"
     Site            53..57
                     /site_type="other"
                     /note="Rab family motif 4 (RabF4)"
                     /db_xref="CDD:206692"
     Site            62..67
                     /site_type="other"
                     /note="Rab family motif 5 (RabF5)"
                     /db_xref="CDD:206692"
     Site            94..98
                     /site_type="other"
                     /note="Rab subfamily motif 3 (RabSF3)"
                     /db_xref="CDD:206692"
     Site            101..104
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206692"
     Site            131..133
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206692"
     Site            147..149
                     /site_type="other"
                     /note="Rab subfamily motif 4 (RabSF4)"
                     /db_xref="CDD:206692"
     Site            177..179
                     /site_type="other"
                     /note="putative lipid modification site [posttranslational
                     modification]"
                     /db_xref="CDD:206692"
     CDS             1..179
                     /gene="RAB29"
                     /gene_synonym="RAB7L; RAB7L1"
                     /coded_by="NM_001135663.2:527..1066"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS44301.1"
                     /db_xref="GeneID:8934"
                     /db_xref="HGNC:HGNC:9789"
                     /db_xref="MIM:603949"
ORIGIN      
        1 mgsrdhlfkv lvvgdaavgk tslvqrysqd sfskhykstv ggqerftsmt rlyyrdasac
       61 vimfdvtnat tfsnsqrwkq dldskltlpn gepvpcllla nkcdlspwav srdqidrfsk
      121 engftgwtet svkenknine amrvliekmm rnstedimsl stqgdyinlq tkssswscc
//
LOCUS       NP_001191102             496 aa            linear   PRI 28-DEC-2022
DEFINITION  serine/threonine-protein kinase Sgk3 [Homo sapiens].
ACCESSION   NP_001191102
VERSION     NP_001191102.1
DBSOURCE    REFSEQ: accession NM_001204173.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 496)
  AUTHORS   Malik N, Nirujogi RS, Peltier J, Macartney T, Wightman M, Prescott
            AR, Gourlay R, Trost M, Alessi DR and Karapetsas A.
  TITLE     Phosphoproteomics reveals that the hVPS34 regulated SGK3 kinase
            specifically phosphorylates endosomal proteins including
            Syntaxin-7, Syntaxin-12, RFIP4 and WDR44
  JOURNAL   Biochem J 476 (20), 3081-3107 (2019)
   PUBMED   31665227
  REMARK    GeneRIF: These results reveal novel substrates for SGK3 and suggest
            a mechanism by which STX7 and STX12 SNARE complexes are regulated
            by SGK3. They reveal new biomarkers for monitoring SGK3 pathway
            activity.
REFERENCE   2  (residues 1 to 496)
  AUTHORS   Bruhn MA, Pearson RB, Hannan RD and Sheppard KE.
  TITLE     Second AKT: the rise of SGK in cancer signalling
  JOURNAL   Growth Factors 28 (6), 394-408 (2010)
   PUBMED   20919962
  REMARK    Review article
REFERENCE   3  (residues 1 to 496)
  AUTHORS   Prakash T, Sharma VK, Adati N, Ozawa R, Kumar N, Nishida Y,
            Fujikake T, Takeda T and Taylor TD.
  TITLE     Expression of conjoined genes: another mechanism for gene
            regulation in eukaryotes
  JOURNAL   PLoS One 5 (10), e13284 (2010)
   PUBMED   20967262
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 496)
  AUTHORS   Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G,
            Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S,
            Vastrik I, Schmidt EE, Avis T, Barthorpe S, Bhamra G, Buck G,
            Choudhury B, Clements J, Cole J, Dicks E, Forbes S, Gray K,
            Halliday K, Harrison R, Hills K, Hinton J, Jenkinson A, Jones D,
            Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R,
            Small A, Tofts C, Varian J, Webb T, West S, Widaa S, Yates A,
            Cahill DP, Louis DN, Goldstraw P, Nicholson AG, Brasseur F,
            Looijenga L, Weber BL, Chiew YE, DeFazio A, Greaves MF, Green AR,
            Campbell P, Birney E, Easton DF, Chenevix-Trench G, Tan MH, Khoo
            SK, Teh BT, Yuen ST, Leung SY, Wooster R, Futreal PA and Stratton
            MR.
  TITLE     Patterns of somatic mutation in human cancer genomes
  JOURNAL   Nature 446 (7132), 153-158 (2007)
   PUBMED   17344846
REFERENCE   5  (residues 1 to 496)
  AUTHORS   Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD,
            Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P,
            Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK,
            Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman
            KE, Papadopoulos N, Vogelstein B, Kinzler KW and Velculescu VE.
  TITLE     The consensus coding sequences of human breast and colorectal
            cancers
  JOURNAL   Science 314 (5797), 268-274 (2006)
   PUBMED   16959974
REFERENCE   6  (residues 1 to 496)
  AUTHORS   Tessier M and Woodgett JR.
  TITLE     Role of the Phox homology domain and phosphorylation in activation
            of serum and glucocorticoid-regulated kinase-3
  JOURNAL   J Biol Chem 281 (33), 23978-23989 (2006)
   PUBMED   16790420
REFERENCE   7  (residues 1 to 496)
  AUTHORS   Loffing J, Flores SY and Staub O.
  TITLE     Sgk kinases and their role in epithelial transport
  JOURNAL   Annu Rev Physiol 68, 461-490 (2006)
   PUBMED   16460280
  REMARK    Review article
REFERENCE   8  (residues 1 to 496)
  AUTHORS   Gamper N, Fillon S, Feng Y, Friedrich B, Lang PA, Henke G, Huber
            SM, Kobayashi T, Cohen P and Lang F.
  TITLE     K+ channel activation by all three isoforms of serum- and
            glucocorticoid-dependent protein kinase SGK
  JOURNAL   Pflugers Arch 445 (1), 60-66 (2002)
   PUBMED   12397388
REFERENCE   9  (residues 1 to 496)
  AUTHORS   Dai F, Yu L, He H, Zhao Y, Yang J, Zhang X and Zhao S.
  TITLE     Cloning and mapping of a novel human serum/glucocorticoid regulated
            kinase-like gene, SGKL, to chromosome 8q12.3-q13.1
  JOURNAL   Genomics 62 (1), 95-97 (1999)
   PUBMED   10585774
REFERENCE   10 (residues 1 to 496)
  AUTHORS   Kobayashi T, Deak M, Morrice N and Cohen P.
  TITLE     Characterization of the structure and regulation of two novel
            isoforms of serum- and glucocorticoid-induced protein kinase
  JOURNAL   Biochem J 344 Pt 1 (Pt 1), 189-197 (1999)
   PUBMED   10548550
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090154.19, BX649057.1 and AC011031.12.
            
            Summary: This locus represents naturally occurring read-through
            transcription between the neighboring putative uncharacterized
            protein C8orf44 (GeneID 56260) and serine/threonine-protein kinase
            Sgk3 (GeneID 23678) genes on chromosome 8. The read-through
            transcript produces a protein that shares sequence identity with
            the downstream gene product. [provided by RefSeq, Feb 2011].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX649057.1, SRR1803614.255134.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2149178
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            readthrough transcript :: includes exons from GeneID 23678, 56260
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.1"
     Protein         1..496
                     /product="serine/threonine-protein kinase Sgk3"
                     /EC_number="2.7.11.1"
                     /note="serum/glucocorticoid-regulated kinase 3;
                     cytokine-independent survival kinase"
                     /calculated_mol_wt=56977
     Region          1..21
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BR1.1)"
     Region          12..120
                     /region_name="PX_CISK"
                     /note="The phosphoinositide binding Phox Homology Domain
                     of Cytokine-Independent Survival Kinase; cd06870"
                     /db_xref="CDD:132780"
     Site            order(22..30,44..48,118,120)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:132780"
     Site            order(50..52,75..76,90)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:132780"
     Region          121..156
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BR1.1)"
     Site            126
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ERE3; propagated from
                     UniProtKB/Swiss-Prot (Q96BR1.1)"
     Site            129
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ERE3; propagated from
                     UniProtKB/Swiss-Prot (Q96BR1.1)"
     Region          165..490
                     /region_name="STKc_SGK3"
                     /note="Catalytic domain of the Protein Serine/Threonine
                     Kinase, Serum- and Glucocorticoid-induced Kinase 3;
                     cd05604"
                     /db_xref="CDD:270755"
     Site            order(168..169,171..174,176,189,191,224,241,243,247,249,
                     286,288,290..291,293,303..304,307,321..326,353,359,362)
                     /site_type="active"
                     /db_xref="CDD:270755"
     Site            order(168..169,171..174,176,189,191,224,241,243,288,
                     290..291,293,303)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270755"
     Site            order(172,247,249,286,288,290,307,321..326,353,359,362)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270755"
     Region          195..205
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BR1.1)"
     Site            303..326
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270755"
     Site            320
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PDPK1.
                     /evidence=ECO:0000269|PubMed:10548550,
                     ECO:0000269|PubMed:16790420; propagated from
                     UniProtKB/Swiss-Prot (Q96BR1.1)"
     Site            461
                     /site_type="other"
                     /note="turn motif phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:270755"
     Site            482..487
                     /site_type="other"
                     /note="hydrophobic motif (HM)"
                     /db_xref="CDD:270755"
     Site            486
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16790420,
                     ECO:0000269|PubMed:16888620; propagated from
                     UniProtKB/Swiss-Prot (Q96BR1.1)"
     CDS             1..496
                     /gene="C8orf44-SGK3"
                     /coded_by="NM_001204173.2:588..2078"
                     /db_xref="GeneID:100533105"
                     /db_xref="HGNC:HGNC:48354"
ORIGIN      
        1 mqrdhtmdyk escpsvsips sdehrekkkr ftvykvlvsv grsewfvfrr yaefdklynt
       61 lkkqfpamal kipakrifgd nfdpdfikqr raglnefiqn lvrypelynh pdvraflqmd
      121 spkhqsdpse dederssqkl hstsqninlg psgnphakpt dfdflkvigk gsfgkvllak
      181 rkldgkfyav kvlqkkivln rkeqkhimae rnvllknvkh pflvglhysf qtteklyfvl
      241 dfvnggelff hlqrersfpe hrarfyaaei asalgylhsi kivyrdlkpe nilldsvghv
      301 vltdfglcke giaisdtttt fcgtpeylap evirkqpydn tvdwwclgav lyemlyglpp
      361 fycrdvaemy dnilhkplsl rpgvsltaws ileellekdr qnrlgakedf leiqnhpffe
      421 slswadlvqk kipppfnpnv agpddirnfd tafteetvpy svcvssdysi vnasvleadd
      481 afvgfsyapp sedlfl
//
LOCUS       NP_001332897             201 aa            linear   PRI 28-DEC-2022
DEFINITION  zinc finger protein 394 isoform 3 [Homo sapiens].
ACCESSION   NP_001332897 XP_016868199
VERSION     NP_001332897.1
DBSOURCE    REFSEQ: accession NM_001345968.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 201)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 201)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (residues 1 to 201)
  AUTHORS   Huang C, Wang Y, Li D, Li Y, Luo J, Yuan W, Ou Y, Zhu C, Zhang Y,
            Wang Z, Liu M and Wu X.
  TITLE     Inhibition of transcriptional activities of AP-1 and c-Jun by a new
            zinc finger protein ZNF394
  JOURNAL   Biochem Biophys Res Commun 320 (4), 1298-1305 (2004)
   PUBMED   15249231
  REMARK    GeneRIF: Overexpression of ZNF394 in the cell inhibits the
            transcriptional activities of c-Jun and AP-1 reporters.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073063.12.
            On Sep 16, 2016 this sequence version replaced XP_016868199.1.
            
            Summary: The protein encoded by this gene is a zinc finger protein
            that inhibits the transcription of mitogen-activated protein kinase
            signaling pathways. The encoded protein may be involved in cardiac
            function. [provided by RefSeq, Sep 2016].
            
            Transcript Variant: This variant (3) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (3)
            has a shorter and distinct C-terminus compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BU732244.1, SRR14038196.2967054.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..201
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     Protein         1..201
                     /product="zinc finger protein 394 isoform 3"
                     /note="zinc finger protein 99; zinc finger protein with
                     KRAB and SCAN domains 14"
                     /calculated_mol_wt=22500
     Region          1..61
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53GI3.2)"
     Site            12
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q53GI3.2)"
     Region          60..170
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Region          155..193
                     /region_name="KRAB_A-box"
                     /note="KRAB (Kruppel-associated box) domain -A box;
                     cd07765"
                     /db_xref="CDD:143639"
     CDS             1..201
                     /gene="ZNF394"
                     /gene_synonym="ZKSCAN14; ZSCAN46"
                     /coded_by="NM_001345968.2:189..794"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:84124"
                     /db_xref="HGNC:HGNC:18832"
                     /db_xref="MIM:619300"
ORIGIN      
        1 mnssltaqrr gsdaelgpwv maarskdaap sqrdgllpvk veedspgswe pnypaaspdp
       61 etsrlhfrql ryqevagpee alsrlrelcr rwlrpellsk eqilellvle qfltilpeel
      121 qawvrehcpe sgeeavavvr alqraldgts sqgmvtfedt avsltweewe rldparrdfc
      181 resaqkdsgs tvppsdtvyg p
//
LOCUS       NP_001372871            1099 aa            linear   PRI 29-DEC-2022
DEFINITION  pleckstrin homology domain-containing family A member 5 isoform 25
            [Homo sapiens].
ACCESSION   NP_001372871
VERSION     NP_001372871.1
DBSOURCE    REFSEQ: accession NM_001385942.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1099)
  AUTHORS   Sluysmans S, Mean I, Xiao T, Boukhatemi A, Ferreira F, Jond L,
            Mutero A, Chang CJ and Citi S.
  TITLE     PLEKHA5, PLEKHA6, and PLEKHA7 bind to PDZD11 to target the Menkes
            ATPase ATP7A to the cell periphery and regulate copper homeostasis
  JOURNAL   Mol Biol Cell 32 (21), ar34 (2021)
   PUBMED   34613798
  REMARK    GeneRIF: PLEKHA5, PLEKHA6, and PLEKHA7 bind to PDZD11 to target the
            Menkes ATPase ATP7A to the cell periphery and regulate copper
            homeostasis.
REFERENCE   2  (residues 1 to 1099)
  AUTHORS   Zouboulis CC, Nogueira da Costa A, Fimmel S and Zouboulis KC.
  TITLE     Apocrine glands are bystanders in hidradenitis suppurativa and
            their involvement is gender specific
  JOURNAL   J Eur Acad Dermatol Venereol 34 (7), 1555-1563 (2020)
   PUBMED   32031713
REFERENCE   3  (residues 1 to 1099)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 1099)
  AUTHORS   Zhang H, Zhu H, Deng G, Zito CR, Oria VO, Rane CK, Zhang S, Weiss
            SA, Tran T, Adeniran A, Zhang F, Zhou J, Kluger Y, Bosenberg MW,
            Kluger HM and Jilaveanu LB.
  TITLE     PLEKHA5 regulates tumor growth in metastatic melanoma
  JOURNAL   Cancer 126 (5), 1016-1030 (2020)
   PUBMED   31769872
  REMARK    GeneRIF: PLEKHA5 regulates tumor growth in metastatic melanoma.
REFERENCE   5  (residues 1 to 1099)
  AUTHORS   Daily JW, Liu M and Park S.
  TITLE     High genetic risk scores of SLIT3, PLEKHA5 and PPP2R2C variants
            increased insulin resistance and interacted with coffee and
            caffeine consumption in middle-aged adults
  JOURNAL   Nutr Metab Cardiovasc Dis 29 (1), 79-89 (2019)
   PUBMED   30454882
  REMARK    GeneRIF: High genetic risk scores of SLIT3, PLEKHA5 and PPP2R2C
            variants increase susceptibility to increased insulin resistance by
            50% and its risk may be exacerbated by consuming more than 10 cups
            coffee/week or 220 mg caffeine/day.
REFERENCE   6  (residues 1 to 1099)
  AUTHORS   Zhang Y, Wolf-Yadlin A, Ross PL, Pappin DJ, Rush J, Lauffenburger
            DA and White FM.
  TITLE     Time-resolved mass spectrometry of tyrosine phosphorylation sites
            in the epidermal growth factor receptor signaling network reveals
            dynamic modules
  JOURNAL   Mol Cell Proteomics 4 (9), 1240-1250 (2005)
   PUBMED   15951569
REFERENCE   7  (residues 1 to 1099)
  AUTHORS   Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S,
            Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett
            JR, Langeberg LK, Scott JD and Pawson T.
  TITLE     Proteomic, functional, and domain-based analysis of in vivo 14-3-3
            binding proteins involved in cytoskeletal regulation and cellular
            organization
  JOURNAL   Curr Biol 14 (16), 1436-1450 (2004)
   PUBMED   15324660
REFERENCE   8  (residues 1 to 1099)
  AUTHORS   Lehner B and Sanderson CM.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   9  (residues 1 to 1099)
  AUTHORS   Grottke C, Mantwill K, Dietel M, Schadendorf D and Lage H.
  TITLE     Identification of differentially expressed genes in human melanoma
            cells with acquired resistance to various antineoplastic drugs
  JOURNAL   Int J Cancer 88 (4), 535-546 (2000)
   PUBMED   11058868
REFERENCE   10 (residues 1 to 1099)
  AUTHORS   Dowler S, Currie RA, Campbell DG, Deak M, Kular G, Downes CP and
            Alessi DR.
  TITLE     Identification of pleckstrin-homology-domain-containing proteins
            with novel phosphoinositide-binding specificities
  JOURNAL   Biochem J 351 (Pt 1), 19-31 (2000)
   PUBMED   11001876
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC024902.54, AC087314.7 and AC091805.16.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2154665,
                              SAMN03465404 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1099
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.3"
     Protein         1..1099
                     /product="pleckstrin homology domain-containing family A
                     member 5 isoform 25"
                     /note="phosphoinositol 3-phosphate-binding protein-2; PH
                     domain-containing family A member 5; pleckstrin homology
                     domain containing, family A member 5"
                     /calculated_mol_wt=125901
     Region          56..159
                     /region_name="PH_PEPP1_2_3"
                     /note="Phosphoinositol 3-phosphate binding proteins 1, 2,
                     and 3 pleckstrin homology (PH) domain; cd13248"
                     /db_xref="CDD:270068"
     Site            order(70,72..73,80,82,93,136)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:270068"
     Region          <508..>761
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1099
                     /gene="PLEKHA5"
                     /gene_synonym="PEPP-2; PEPP2"
                     /coded_by="NM_001385942.1:241..3540"
                     /note="isoform 25 is encoded by transcript variant 25"
                     /db_xref="GeneID:54477"
                     /db_xref="HGNC:HGNC:30036"
                     /db_xref="MIM:607770"
ORIGIN      
        1 mtseekkerp ismineasny nvtsdyavhp mspvgrtsra skkvhnfgkr snsikrnpna
       61 pvvrrgwlyk qdstgmklwk krwfvlsdlc lfyyrdekee gilgsillps fqialltsed
      121 hinrkyafka ahpnmrtyyf ctdtgkemel wmkamldaal vqtepvkrit fnfrvdkits
      181 enaptketnn ipnhrvlikp eiqnnqknke mskieekkal eaekygfqkd gqdrpltkin
      241 svklnslpse yesgsacpaq tvhyrpinls ssenkivnvs ladlrggnrp ntgplytead
      301 rviqrtnsmq qleqwikiqk grgheeetrg visyqtlprn mpshraqima rypegyrtlp
      361 rnsktrpesi csvtpsthdk tlgpgaeekr rsmrddtmwq lyewqqrqfy nkqstlprhs
      421 tlsspktmvn isdqtmhsip tspshgsiaa yqgyspqrty rsevsspiqr gdvtidrrhr
      481 ahhpkhvyvp drrsvpaglt lqsvspqslq gktpeeltll liklrrqqae lssirehtla
      541 qlmqlkleah spkneilshh lqrntiyldh qmkenepiit mvhtmiensa lrpqlyqqls
      601 qdegrgtlyk yrpeevdida klsrlceqdk vvhaleeklq qlhkekytle qallsasqei
      661 emhadnpaai qtvvlqrddl qngllstcre lsrataeler awreydkley dvtvtrnqmq
      721 eqldhlgevq tesagiqraq iqkelwriqd vmeglskhkq qrgtteigmi gskpfstvky
      781 knegpdyrly ksepelttva evdesngeek sepvseiets vvkgshfpvg vvpprakspt
      841 pesstiasyv tlrktkkmmd lrterprsav eqlclaestr prmtveeqme rirrhqqacl
      901 rekkkglnvi gasdqsplqs psnlrdnpfr ttqtrrrddk eldtairend vkpdhetpat
      961 eivqlketep qnvdfskelk ktenisyeml fepepngvns vemmdkernk dkmpedvtfs
     1021 pqdetqtanh kpeehpeent knsvdeqeet visyestpev srgnqtmavk slspspessa
     1081 spvpstqpql tegshfmcv
//
LOCUS       NP_001135774             323 aa            linear   PRI 30-DEC-2022
DEFINITION  coiled-coil domain-containing protein 113 isoform 2 [Homo sapiens].
ACCESSION   NP_001135774
VERSION     NP_001135774.1
DBSOURCE    REFSEQ: accession NM_001142302.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 323)
  AUTHORS   Bazan R, Schrofel A, Joachimiak E, Poprzeczko M, Pigino G and Wloga
            D.
  TITLE     Ccdc113/Ccdc96 complex, a novel regulator of ciliary beating that
            connects radial spoke 3 to dynein g and the nexin link
  JOURNAL   PLoS Genet 17 (3), e1009388 (2021)
   PUBMED   33661892
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 323)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 323)
  AUTHORS   Sigg MA, Menchen T, Lee C, Johnson J, Jungnickel MK, Choksi SP,
            Garcia G 3rd, Busengdal H, Dougherty GW, Pennekamp P, Werner C,
            Rentzsch F, Florman HM, Krogan N, Wallingford JB, Omran H and
            Reiter JF.
  TITLE     Evolutionary Proteomics Uncovers Ancient Associations of Cilia with
            Signaling Pathways
  JOURNAL   Dev Cell 43 (6), 744-762 (2017)
   PUBMED   29257953
REFERENCE   4  (residues 1 to 323)
  AUTHORS   Firat-Karalar EN, Sante J, Elliott S and Stearns T.
  TITLE     Proteomic analysis of mammalian sperm cells identifies new
            components of the centrosome
  JOURNAL   J Cell Sci 127 (Pt 19), 4128-4133 (2014)
   PUBMED   25074808
REFERENCE   5  (residues 1 to 323)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009107.11.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (2) has the same
            N- and C-termini but is shorter compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.3566929.1, AK299066.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145240, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q21"
     Protein         1..323
                     /product="coiled-coil domain-containing protein 113
                     isoform 2"
                     /note="coiled-coil domain-containing protein 113"
                     /calculated_mol_wt=37791
     Region          126..300
                     /region_name="DUF4201"
                     /note="Domain of unknown function (DUF4201); pfam13870"
                     /db_xref="CDD:433541"
     CDS             1..323
                     /gene="CCDC113"
                     /gene_synonym="HSPC065"
                     /coded_by="NM_001142302.2:80..1051"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS45497.1"
                     /db_xref="GeneID:29070"
                     /db_xref="HGNC:HGNC:25002"
                     /db_xref="MIM:616070"
ORIGIN      
        1 mtddesesvl sdshegsele lpviqlcglv eelsyvnsal ktetemfeky yakleprdqr
       61 pprlseikis aadyaqaiie eaeirwsevs revhefekdi lkaiskkkgs ilatqkvmky
      121 iedmnrrrdn mkeklrlknv slkvqrkkml lqlrqkeevs ealhdvdfqq lkienaqfle
      181 tiearnqelt qlklssgntl qvlnaykskl hkameiylnl dkeillrkel lekieketlq
      241 veedrakaea vnkrlrkqla efrapqvmty vrekilnadl eksirmwerk veiaemslkg
      301 hrkawnrmki tneqlqadyl agk
//
LOCUS       NP_001376615            1458 aa            linear   PRI 31-DEC-2022
DEFINITION  golgin subfamily A member 3 isoform 3 [Homo sapiens].
ACCESSION   NP_001376615 XP_005266221
VERSION     NP_001376615.1
DBSOURCE    REFSEQ: accession NM_001389686.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1458)
  AUTHORS   Shamseldin HE, Al Mogarri I, Alqwaiee MM, Alharbi AS, Baqais K,
            AlSaadi M, AlAnzi T, Alhashem A, Saghier A, Ameen W, Ibrahim N,
            Yang J, Abdulwahab F, Hashem M, Chivukula RR and Alkuraya FS.
  TITLE     An exome-first approach to aid in the diagnosis of primary ciliary
            dyskinesia
  JOURNAL   Hum Genet 139 (10), 1273-1283 (2020)
   PUBMED   32367404
  REMARK    GeneRIF: An exome-first approach to aid in the diagnosis of primary
            ciliary dyskinesia.
REFERENCE   2  (residues 1 to 1458)
  AUTHORS   Gilbert CE, Sztul E and Machamer CE.
  TITLE     Commonly used trafficking blocks disrupt ARF1 activation and the
            localization and function of specific Golgi proteins
  JOURNAL   Mol Biol Cell 29 (8), 937-947 (2018)
   PUBMED   29467256
  REMARK    GeneRIF: Golgin-160 disperses from Golgi membranes in cells
            subjected to cold temperature. Activated ARF1 can prevent
            cold-induced dispersal of golgin-160.
REFERENCE   3  (residues 1 to 1458)
  AUTHORS   Guo Z, Neilson LJ, Zhong H, Murray PS, Zanivan S and Zaidel-Bar R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1458)
  AUTHORS   Ohta E, Misumi Y, Sohda M, Fujiwara T, Yano A and Ikehara Y.
  TITLE     Identification and characterization of GCP16, a novel acylated
            Golgi protein that interacts with GCP170
  JOURNAL   J Biol Chem 278 (51), 51957-51967 (2003)
   PUBMED   14522980
  REMARK    GeneRIF: results indicate that GCP16 is the acylated membrane
            protein, associated with GCP170, and possibly involved in vesicular
            transport from the Golgi to the cell surface
REFERENCE   5  (residues 1 to 1458)
  AUTHORS   Hicks SW and Machamer CE.
  TITLE     The NH2-terminal domain of Golgin-160 contains both Golgi and
            nuclear targeting information
  JOURNAL   J Biol Chem 277 (39), 35833-35839 (2002)
   PUBMED   12130652
  REMARK    GeneRIF: NH2 terminal domain of Golgin 160 has a role in nuclear
            transport and Golgi apparatus localization
REFERENCE   6  (residues 1 to 1458)
  AUTHORS   Bray JD, Chennathukuzhi VM and Hecht NB.
  TITLE     Identification and characterization of cDNAs encoding four novel
            proteins that interact with translin associated factor-X
  JOURNAL   Genomics 79 (6), 799-808 (2002)
   PUBMED   12036294
REFERENCE   7  (residues 1 to 1458)
  AUTHORS   Mancini M, Machamer CE, Roy S, Nicholson DW, Thornberry NA,
            Casciola-Rosen LA and Rosen A.
  TITLE     Caspase-2 is localized at the Golgi complex and cleaves golgin-160
            during apoptosis
  JOURNAL   J Cell Biol 149 (3), 603-612 (2000)
   PUBMED   10791974
REFERENCE   8  (residues 1 to 1458)
  AUTHORS   Barr FA.
  TITLE     A novel Rab6-interacting domain defines a family of Golgi-targeted
            coiled-coil proteins
  JOURNAL   Curr Biol 9 (7), 381-384 (1999)
   PUBMED   10209123
REFERENCE   9  (residues 1 to 1458)
  AUTHORS   Misumi Y, Sohda M, Yano A, Fujiwara T and Ikehara Y.
  TITLE     Molecular characterization of GCP170, a 170-kDa protein associated
            with the cytoplasmic face of the Golgi membrane
  JOURNAL   J Biol Chem 272 (38), 23851-23858 (1997)
   PUBMED   9295333
REFERENCE   10 (residues 1 to 1458)
  AUTHORS   Fritzler MJ, Hamel JC, Ochs RL and Chan EK.
  TITLE     Molecular characterization of two human autoantigens: unique cDNAs
            encoding 95- and 160-kD proteins of a putative family in the Golgi
            complex
  JOURNAL   J Exp Med 178 (1), 49-62 (1993)
   PUBMED   8315394
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC127070.10 and AC136467.11.
            On Jan 12, 2021 this sequence version replaced XP_005266221.1.
            
            Summary: The Golgi apparatus, which participates in glycosylation
            and transport of proteins and lipids in the secretory pathway,
            consists of a series of stacked cisternae (flattened membrane
            sacs). Interactions between the Golgi and microtubules are thought
            to be important for the reorganization of the Golgi after it
            fragments during mitosis. This gene encodes a member of the golgin
            family of proteins which are localized to the Golgi. Its encoded
            protein has been postulated to play a role in nuclear transport and
            Golgi apparatus localization. Several alternatively spliced
            transcript variants that encode different protein isoforms have
            been described for this gene. [provided by RefSeq, Feb 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.8670.1,
                                           SRR11853564.7743.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1458
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     Protein         1..1458
                     /product="golgin subfamily A member 3 isoform 3"
                     /note="golgi autoantigen, golgin subfamily a, 3; SY2/SY10
                     protein; Golgi peripheral membrane protein; Golgi membrane
                     associated protein; golgin subfamily A member 3;
                     golgin-165; golgin-160; male enhanced antigen-2; golgi
                     complex-associated protein of 170 kDa"
                     /calculated_mol_wt=162855
     Region          <353..703
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          590..1318
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1458
                     /gene="GOLGA3"
                     /gene_synonym="GCP170; MEA-2"
                     /coded_by="NM_001389686.1:251..4627"
                     /note="isoform 3 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS91785.1"
                     /db_xref="GeneID:2802"
                     /db_xref="HGNC:HGNC:4426"
                     /db_xref="MIM:602581"
ORIGIN      
        1 mdgasaeqdg lqedrshsgp sslpeaplkp pgplvppdqq dkvqcaevnr astegespdg
       61 pgqgglcqng ptppfpdpps sldpttspvg pdaspgstds plplekeeqv rlqarkwlee
      121 qlkqyrvkrq qerssqpatk trlfstldpe lmlnpenlpr astlamtkey sflrtsvprg
      181 pkvgslglpa hprekktsks skirsladyr tedsnagnsg gnvpapdstk gslkqnrssa
      241 asvvseisls pdtddrlent slagdsvsev dgndsdsssy ssastrgtyg ilsktvgtqd
      301 tpymvngqei padtlgqfps ikdvlqaaaa ehqdqgqevn gevrsrrdsi cssvslessa
      361 aetqeemlqv lkekmrlegq lealsleasq alkekaelqa qlaalstklq aqvecshssq
      421 qrqdslssev dtlkqscwdl eramtdlqnm leaknaslas snndlqvaee qyqrlmakve
      481 dmqrsmlskd ntvhdlrqqm talqsqlqqv qlerttltsk lkasqaeiss lqsvrqwyqq
      541 qlalaqearv rlqgemahiq vgqmtqagll ehlklenvsl sqqltetqhr smkekgriaa
      601 qlqgieadml dqeaafmqiq eaktmveedl qrrleefege rerlqrmads aasleqqleq
      661 vkltllqrdq qlealqqehl dlmkqltltq ealqsreqsl dalqthydel qarlgelqge
      721 aasredticl lqnekiilea alqaaksgke eldrgarrle egteetsetl eklreelaik
      781 sgqvehlqqe taalkkqmqk ikeqflqqkv mveayrrdat skdqliselk atrkrldsel
      841 kelrqelmqv hgekrtaeae lsrlhrevaq vrqhmadleg hlqsaqkerd emethlqslq
      901 fdkeqmvavt eanealkkqi eelqqearka iteqkqkmrr lgsdltsaqk emktkhkaye
      961 navgilsrrl qealaakeaa daelgqlraq ggssdsslal heriqaleae lqavshsktl
     1021 lekelqevia ltsqeleesr ekvleledel qesrgfrkki krleesnkkl alelehekgk
     1081 ltglgqsnaa lrehnsilet alakreadlv qlnlqvqavl qrkeeedrqm khlvqalqas
     1141 lekekekvns lkeqvaaakv eaghnrrhfk aaslelsevk kelqakehlv qklqaeaddl
     1201 qiregkhsqe iaqfqaelae araqlqllqk qldeqlskqp vgnqemenlk wevdqkerei
     1261 qslkqqldlt eqqgrkeleg lqqllqnvks elemaqedls mtqkdkfmlq akvselknnm
     1321 ktllqqnqql kldlrrgaak trkepkgeas ssnpatpiki pdcpvpasll eellrpppav
     1381 skeplknlns clqqlkqemd slqrqmeeha ltvheslssw tplepatasp vppgghagpr
     1441 gdpqrhsqsr askegpge
//
LOCUS       NP_001374605             449 aa            linear   PRI 29-JAN-2023
DEFINITION  lipoma-preferred partner isoform c [Homo sapiens].
ACCESSION   NP_001374605 XP_011511138
VERSION     NP_001374605.1
DBSOURCE    REFSEQ: accession NM_001387676.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 449)
  AUTHORS   Howarth S, Sneddon G, Allinson KR, Razvi S, Mitchell AL and Pearce
            SHS.
  TITLE     Replication of association at the LPP and UBASH3A loci in a UK
            autoimmune Addison's disease cohort
  JOURNAL   Eur J Endocrinol 188 (1) (2023)
   PUBMED   36651163
  REMARK    GeneRIF: Replication of association at the LPP and UBASH3A loci in
            a UK autoimmune Addison's disease cohort.
REFERENCE   2  (residues 1 to 449)
  AUTHORS   Wang H, Han H, Niu Y, Li X, Du X and Wang Q.
  TITLE     LPP polymorphisms are risk factors for allergic rhinitis in the
            Chinese Han population
  JOURNAL   Cytokine 159, 156027 (2022)
   PUBMED   36084606
  REMARK    GeneRIF: LPP polymorphisms are risk factors for allergic rhinitis
            in the Chinese Han population.
REFERENCE   3  (residues 1 to 449)
  AUTHORS   Zhang Y, Ma L, Liu J, Zhu H, Lu L, Deng K, Ma W, Pan H, Wang R and
            Yao Y.
  TITLE     Case Report: Identification of Potential Prognosis-Related TP53
            Mutation and BCL6-LPP Fusion in Primary Pituitary Lymphoma by Next
            Generation Sequencing: Two Cases
  JOURNAL   Front Endocrinol (Lausanne) 12, 673908 (2021)
   PUBMED   34381423
  REMARK    GeneRIF: Case Report: Identification of Potential Prognosis-Related
            TP53 Mutation and BCL6-LPP Fusion in Primary Pituitary Lymphoma by
            Next Generation Sequencing: Two Cases.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 449)
  AUTHORS   Chen Q, Sun Y, Wu J, Xiong Z, Niu F, Jin T and Zhao Q.
  TITLE     LPP and RYR2 Gene Polymorphisms Correlate with the Risk and the
            Prognosis of Astrocytoma
  JOURNAL   J Mol Neurosci 69 (4), 628-635 (2019)
   PUBMED   31440994
  REMARK    GeneRIF: LPP rs2378456 CC genotype increased the risk of
            astrocytoma.
REFERENCE   5  (residues 1 to 449)
  AUTHORS   Grunewald TG, Pasedag SM and Butt E.
  TITLE     Cell Adhesion and Transcriptional Activity - Defining the Role of
            the Novel Protooncogene LPP
  JOURNAL   Transl Oncol 2 (3), 107-116 (2009)
   PUBMED   19701494
  REMARK    GeneRIF: LPP is a nucleocytoplasmatic shuttle protein linking focal
            adhesion dynamics to the transcriptional machinery.
REFERENCE   6  (residues 1 to 449)
  AUTHORS   Rogalla P, Lemke I, Kazmierczak B and Bullerdiek J.
  TITLE     An identical HMGIC-LPP fusion transcript is consistently expressed
            in pulmonary chondroid hamartomas with t(3;12)(q27-28;q14-15)
  JOURNAL   Genes Chromosomes Cancer 29 (4), 363-366 (2000)
   PUBMED   11066083
REFERENCE   7  (residues 1 to 449)
  AUTHORS   Petit MM, Fradelizi J, Golsteyn RM, Ayoubi TA, Menichi B, Louvard
            D, Van de Ven WJ and Friederich E.
  TITLE     LPP, an actin cytoskeleton protein related to zyxin, harbors a
            nuclear export signal and transcriptional activation capacity
  JOURNAL   Mol Biol Cell 11 (1), 117-129 (2000)
   PUBMED   10637295
REFERENCE   8  (residues 1 to 449)
  AUTHORS   Petit MM, Swarts S, Bridge JA and Van de Ven WJ.
  TITLE     Expression of reciprocal fusion transcripts of the HMGIC and LPP
            genes in parosteal lipoma
  JOURNAL   Cancer Genet Cytogenet 106 (1), 18-23 (1998)
   PUBMED   9772904
REFERENCE   9  (residues 1 to 449)
  AUTHORS   Petit MM, Mols R, Schoenmakers EF, Mandahl N and Van de Ven WJ.
  TITLE     LPP, the preferred fusion partner gene of HMGIC in lipomas, is a
            novel member of the LIM protein gene family
  JOURNAL   Genomics 36 (1), 118-129 (1996)
   PUBMED   8812423
REFERENCE   10 (residues 1 to 449)
  AUTHORS   Schoenmakers EF, Wanschura S, Mols R, Bullerdiek J, Van den Berghe
            H and Van de Ven WJ.
  TITLE     Recurrent rearrangements in the high mobility group protein gene,
            HMGI-C, in benign mesenchymal tumours
  JOURNAL   Nat Genet 10 (4), 436-444 (1995)
   PUBMED   7670494
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC063932.14, AC055711.18,
            AC009319.19 and KF510228.1.
            On Nov 20, 2020 this sequence version replaced XP_011511138.1.
            
            Summary: This gene encodes a member of a subfamily of LIM domain
            proteins that are characterized by an N-terminal proline-rich
            region and three C-terminal LIM domains. The encoded protein
            localizes to the cell periphery in focal adhesions and may be
            involved in cell-cell adhesion and cell motility. This protein also
            shuttles through the nucleus and may function as a transcriptional
            co-activator. This gene is located at the junction of certain
            disease-related chromosomal translocations, which result in the
            expression of chimeric proteins that may promote tumor growth.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.371759.1,
                                           SRR5189667.207725.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.3-q28"
     Protein         1..449
                     /product="lipoma-preferred partner isoform c"
                     /note="LIM protein; lipoma preferred partner"
                     /calculated_mol_wt=48386
     Region          28..>217
                     /region_name="dnaA"
                     /note="chromosomal replication initiator protein DnaA;
                     cl42516"
                     /db_xref="CDD:455861"
     Region          253..306
                     /region_name="LIM1_TRIP6"
                     /note="The first LIM domain of Thyroid
                     receptor-interacting protein 6 (TRIP6); cd09350"
                     /db_xref="CDD:188736"
     Site            order(253,256,275,278,281,284,302,305)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188736"
     Region          313..365
                     /region_name="LIM2_TRIP6"
                     /note="The second LIM domain of Thyroid
                     receptor-interacting protein 6 (TRIP6); cd09356"
                     /db_xref="CDD:188742"
     Site            order(313,316,333,336,339,342,361,364)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188742"
     Region          373..438
                     /region_name="LIM"
                     /note="LIM is a small protein-protein interaction domain,
                     containing two zinc fingers; cl02475"
                     /db_xref="CDD:413332"
     Site            order(373,376,400,403,406,409,430,433)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:259829"
     CDS             1..449
                     /gene="LPP"
                     /coded_by="NM_001387676.1:185..1534"
                     /note="isoform c is encoded by transcript variant 29"
                     /db_xref="GeneID:4026"
                     /db_xref="HGNC:HGNC:6679"
                     /db_xref="MIM:600700"
ORIGIN      
        1 mvipnqpplt atkkstlkpq papqagpipv apigtlkpqp qpvpasytta stssrptfnv
       61 qvksaqpsph ymaapssgqi ygsgpqgynt qpvpvsgqcp ppstrggmdy ayipppglqp
      121 epgygyapnq gryyegyyaa gpgyggrnds dptygqqghp ntwkrepgyt ppgagnqnpp
      181 gmypvtgpkk tyitdpvsap capplqpkgg hsgqlgpssv apsfrpedel ehltkkmlyd
      241 menppadeyf grcarcgenv vgegtgctam dqvfhvdcft ciicnnklrg qpfyavekka
      301 ycepcyintl eqcnvcskpi merilratgk ayhphcftcv mchrsldgip ftvdagglih
      361 ciedfhkkfa prcsvckepi mpapgqeetv rivaldrdfh vhcyrcedcg gllsegdnqg
      421 cypldghilc ktcnsarirv ltakastdl
//
LOCUS       NP_001333375            5890 aa            linear   PRI 08-FEB-2023
DEFINITION  neuroblast differentiation-associated protein AHNAK isoform 1 [Homo
            sapiens].
ACCESSION   NP_001333375 XP_005274297
VERSION     NP_001333375.1
DBSOURCE    REFSEQ: accession NM_001346446.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 5890)
  AUTHORS   Sun L, Lu J, Li K, Zhang H, Zhao X, Li G and Li N.
  TITLE     Diagnostic and prognostic value of STAP1 and AHNAK methylation in
            peripheral blood immune cells for HBV-related hepatopathy
  JOURNAL   Front Immunol 13, 1091103 (2023)
   PUBMED   36713363
  REMARK    GeneRIF: Diagnostic and prognostic value of STAP1 and AHNAK
            methylation in peripheral blood immune cells for HBV-related
            hepatopathy.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 5890)
  AUTHORS   He SL, Zhao X and Yi SJ.
  TITLE     CircAHNAK upregulates EIF2B5 expression to inhibit the progression
            of ovarian cancer by modulating the JAK2/STAT3 signaling pathway
  JOURNAL   Carcinogenesis 43 (10), 941-955 (2022)
   PUBMED   35710311
  REMARK    GeneRIF: CircAHNAK upregulates EIF2B5 expression to inhibit the
            progression of ovarian cancer by modulating the JAK2/STAT3
            signaling pathway.
REFERENCE   3  (residues 1 to 5890)
  AUTHORS   Huang Y, Wei L, Huang Y, Wen S, Liu T, Duan X, Wang Y, Zhang H, Fan
            B and Hu B.
  TITLE     Identification of distinct genomic features reveals frequent
            somatic AHNAK and PTEN mutations predominantly in primary malignant
            melanoma presenting in the ureter
  JOURNAL   Jpn J Clin Oncol 52 (8), 930-943 (2022)
   PUBMED   35578896
  REMARK    GeneRIF: Identification of distinct genomic features reveals
            frequent somatic AHNAK and PTEN mutations predominantly in primary
            malignant melanoma presenting in the ureter.
            Review article
            Erratum:[Jpn J Clin Oncol. 2022 Nov 3;52(11):1358. PMID: 36124846]
REFERENCE   4  (residues 1 to 5890)
  AUTHORS   Pascal A, Gallaud E, Giet R and Benaud C.
  TITLE     Annexin A2 and Ahnak control cortical NuMA-dynein localization and
            mitotic spindle orientation
  JOURNAL   J Cell Sci 135 (9) (2022)
   PUBMED   35362526
  REMARK    GeneRIF: Annexin A2 and Ahnak control cortical NuMA-dynein
            localization and mitotic spindle orientation.
REFERENCE   5  (residues 1 to 5890)
  AUTHORS   Shi Y, Zhang L, Wang L and Ding H.
  TITLE     Downregulation of Circ_0088196 Contributes to the Development of
            Trophoblastic Cells through miR-133b Sponging Function to Affect
            the AHNAK Expression
  JOURNAL   Gynecol Obstet Invest 87 (5), 305-315 (2022)
   PUBMED   36198257
  REMARK    GeneRIF: Downregulation of Circ_0088196 Contributes to the
            Development of Trophoblastic Cells through miR-133b Sponging
            Function to Affect the AHNAK Expression.
REFERENCE   6  (residues 1 to 5890)
  AUTHORS   de Morree A, Droog M, Grand Moursel L, Bisschop IJ, Impagliazzo A,
            Frants RR, Klooster R and van der Maarel SM.
  TITLE     Self-regulated alternative splicing at the AHNAK locus
  JOURNAL   FASEB J 26 (1), 93-103 (2012)
   PUBMED   21940993
  REMARK    GeneRIF: AHNAK constitutes a novel mechanism in
            post-transcriptional control of gene expression.
REFERENCE   7  (residues 1 to 5890)
  AUTHORS   Gentil BJ, Delphin C, Mbele GO, Deloulme JC, Ferro M, Garin J and
            Baudier J.
  TITLE     The giant protein AHNAK is a specific target for the calcium- and
            zinc-binding S100B protein: potential implications for Ca2+
            homeostasis regulation by S100B
  JOURNAL   J Biol Chem 276 (26), 23253-23261 (2001)
   PUBMED   11312263
REFERENCE   8  (residues 1 to 5890)
  AUTHORS   Kudoh J, Wang Y, Minoshima S, Hashimoto T, Amagai M, Nishikawa T,
            Shtivelman E, Bishop JM and Shimizu N.
  TITLE     Localization of the human AHNAK/desmoyokin gene (AHNAK) to
            chromosome band 11q12 by somatic cell hybrid analysis and
            fluorescence in situ hybridization
  JOURNAL   Cytogenet Cell Genet 70 (3-4), 218-220 (1995)
   PUBMED   7789175
REFERENCE   9  (residues 1 to 5890)
  AUTHORS   Shtivelman E, Cohen FE and Bishop JM.
  TITLE     A human gene (AHNAK) encoding an unusually large protein with a
            1.2-microns polyionic rod structure
  JOURNAL   Proc Natl Acad Sci U S A 89 (12), 5472-5476 (1992)
   PUBMED   1608957
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1993 May 1;90(9):4328]
REFERENCE   10 (residues 1 to 5890)
  AUTHORS   Osborn M, Johnsson N, Wehland J and Weber K.
  TITLE     The submembranous location of p11 and its interaction with the p36
            substrate of pp60 src kinase in situ
  JOURNAL   Exp Cell Res 175 (1), 81-96 (1988)
   PUBMED   3126079
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP359022.1 and AP001363.4.
            On Oct 13, 2016 this sequence version replaced XP_005274297.1.
            
            Summary: The protein encoded by this gene is a large (700 kDa)
            structural scaffold protein consisting of a central domain with 128
            aa repeats. The encoded protein may play a role in such diverse
            processes as blood-brain barrier formation, cell structure and
            migration, cardiac calcium channel regulation, and tumor
            metastasis. A much shorter variant encoding a 17 kDa isoform exists
            for this gene, and the shorter isoform initiates a feedback loop
            that regulates alternative splicing of this gene. [provided by
            RefSeq, Oct 2016].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. Variants 1, 3, and 4 all encode the same isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BP359022.1, DA445143.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146, SAMEA2467147
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..5890
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     Protein         1..5890
                     /product="neuroblast differentiation-associated protein
                     AHNAK isoform 1"
                     /note="AHNAK-related; desmoyokin; neuroblast
                     differentiation-associated protein AHNAK"
                     /calculated_mol_wt=628973
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          22..90
                     /region_name="PDZ"
                     /note="PDZ domain, also called DHR (Dlg homologous region)
                     or GLGF (after a conserved sequence motif). Many PDZ
                     domains bind C-terminal polypeptides, though binding to
                     internal (non-C-terminal) polypeptides and even to lipids
                     has been demonstrated; cl00117"
                     /db_xref="CDD:444702"
     Site            41
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            93
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            101
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            115
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            135
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            158
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            177
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            210
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            212
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            216
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            218
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            220
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            256
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            270
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          314..347
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            332
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            337
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            379
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            470
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            490
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:17924679, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            511
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:17924679,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Region          545..564
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            551
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            553
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            559
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            570
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            572
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            658
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            793
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            819
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          970..993
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1010
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1042
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1068
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1170
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1192
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1196
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1208
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1286
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1298
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          1414..1438
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1580
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1654
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1666
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          1741..1766
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1856
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1868
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1923
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1935
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1986
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            1990
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2002
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2092
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2118
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2130
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2138
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2181
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2287
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2309
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2397
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Region          2410..2439
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Region          2542..2567
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2580
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2600
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          2610..2633
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Region          2667..2695
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2670
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2708
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2728
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2798
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2832
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            2845
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          2853..2882
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Region          2921..2951
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Region          <3031..3656
                     /region_name="TamB"
                     /note="Autotransporter translocation and assembly factor
                     TamB [Intracellular trafficking, secretion, and vesicular
                     transport]; COG2911"
                     /db_xref="CDD:225463"
     Site            3054
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            3092
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          3122..3145
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            3182
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            3220
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            3362
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            3409
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            3412
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            3426
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          3431..3911
                     /region_name="AsmA"
                     /note="AsmA family; pfam05170"
                     /db_xref="CDD:428346"
     Site            3544
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          3702..3730
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            3716
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            3746
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          3763..3799
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            3766
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            3836
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            3874
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            3964
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4002
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4022
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4092
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          4093..4117
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4100
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          4147..4169
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4150
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4220
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4258
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4278
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          4326..>4631
                     /region_name="AsmA"
                     /note="AsmA family; pfam05170"
                     /db_xref="CDD:428346"
     Site            4360
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4406
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          4416..4447
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4425
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4430
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4460
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4480
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4486
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          4488..4508
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4516
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4520
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          4550..4581
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4564
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          4611..4631
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4684
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4722
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          <4726..5622
                     /region_name="TamB"
                     /note="Autotransporter translocation and assembly factor
                     TamB [Intracellular trafficking, secretion, and vesicular
                     transport]; COG2911"
                     /db_xref="CDD:225463"
     Region          4746..4768
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4766
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4812
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          4880..4904
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4900
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4903
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4908
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4953
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4960
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Region          4971..4979
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4986
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17924679,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            4993
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5009
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          5019..5027
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Region          5034..5039
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5077
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5099
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17924679,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5110
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:17924679, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5125
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5261
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5318
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5332
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5369
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5386
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5393
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5400
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5415
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5448
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5519
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5530
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5552
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:17924679, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5577
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5620
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5641
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Region          5706..5716
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Region          5716..5890
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5731
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5739
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5749
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19367720, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5752
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19367720,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5762
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5763
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Region          5772..5779
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5780
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5782
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5790
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5793
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5794
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5824
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5830
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5841
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5845
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5851
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5857
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09666.2)"
     Site            5863
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q09666.2)"
     CDS             1..5890
                     /gene="AHNAK"
                     /gene_synonym="AHNAK1; AHNAKRS; PM227"
                     /coded_by="NM_001346446.2:199..17871"
                     /note="isoform 1 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS31584.1"
                     /db_xref="GeneID:79026"
                     /db_xref="HGNC:HGNC:347"
                     /db_xref="MIM:103390"
ORIGIN      
        1 mekeettrel llpnwqgsgs hgltiaqrdd gvfvqevtqn spaartgvvk egdqivgati
       61 yfdnlqsgev tqllntmghh tvglklhrkg drspepgqtw trevfsscss evvlsgddee
      121 yqriyttkik prlksedgve gdlgetqsrt itvtrrvtay tvdvtgrega kdidisspef
      181 kikiprhelt eisnvdvetq sgktvirlps gsgaasptgs avdiragais asgpelqgag
      241 hsklqvtmpg ikvggsgvnv nakgldlggr ggvqvpavdi ssslggrave vqgpslesgd
      301 hgkikfptmk vpkfgvstgr egqtpkaglr vsapevsvgh kggkpgltiq apqlevsvps
      361 anieglegkl kgpqitgpsl egdlglkgak pqghigvdas apqiggsitg psvevqapdi
      421 dvqgpgskln vpkmkvpkfs vsgakgeetg idvtlptgev tvpgvsgdvs lpeiatggle
      481 gkmkgtkvkt pemiiqkpki smqdvdlslg spklkgdikv sapgvqgdvk gpqvalkgsr
      541 vdietpnleg tltgprlgsp sgktgtcris msevdlnvaa pkvkggvdvt lprvegkvkv
      601 pevdvrgpkv dvsapdveah gpewnlkmpk mkmptfstpg akgegpdvhm tlpkgdisis
      661 gpkvnveapd vnleglggkl kgpdvklpdm svktpkismp dvdlhvkgtk vkgeydvtvp
      721 klegelkgpk vdidapdvdv hgpdwhlkmp kmkmpkfsvp gfkaegpevd vnlpkadvdi
      781 sgpkidvtap dvsieepegk lkgpkfkmpe mnikvpkism pdvdlhlkgp nvkgeydvtm
      841 pkveseikvp dvelksakmd idvpdvevqg pdwhlkmpkm kmpkfsmpgf kaegpevdvn
      901 lpkadvdisg pkvgvevpdv niegpegklk gpkfkmpemn ikapkismpd vdlhmkgpkv
      961 kgeydmtvpk legdlkgpkv dvsapdvemq gpdwnlkmpk ikmpkfsmps lkgegpefdv
     1021 nlskanvdis apkvdtnapd lslegpegkl kgpkfkmpem hfrapkmslp dvdldlkgpk
     1081 mkgnvdisap kiegemqvpd vdirgpkvdi kapdvegqgl dwslkipkmk mpkfsmpslk
     1141 gegpevdvnl pkadvvvsgp kvdieapdvs legpegklkg pkfkmpemhf ktpkismpdv
     1201 dlhlkgpkvk gdvdvsvpkv egemkvpdve ikgpkmdida pdvevqgpdw hlkmpkmkmp
     1261 kfsmpgfkge grevdvnlpk adidvsgpkv dvevpdvsle gpegklkgpk fkmpemhfka
     1321 pkismpdvdl nlkgpklkgd vdvslpeveg emkvpdvdik gpkvdisapd vdvhgpdwhl
     1381 kmpkvkmpkf smpgfkgegp evdvklpkad vdvsgpkmda evpdvniegp daklkgpkfk
     1441 mpemsikpqk isipdvglhl kgpkmkgdyd vtvpkvegei kapdvdikgp kvdinapdve
     1501 vhgpdwhlkm pkvkmpkfsm pgfkgegpev dmnlpkadlg vsgpkvdidv pdvnleapeg
     1561 klkgpkfkmp smniqthkis mpdvglnlka pklktdvdvs lpkvegdlkg peidvkapkm
     1621 dvnvgdidie gpegklkgpk fkmpemhfka pkismpdvdl hlkgpkvkgd mdvsvpkveg
     1681 emkvpdvdik gpkvdidapd vevhdpdwhl kmpkmkmpkf smpgfkaegp evdvnlpkad
     1741 idvsgpsvdt dapdldiegp egklkgskfk mpklnikapk vsmpdvdlnl kgpklkgeid
     1801 asvpelegdl rgpqvdvkgp fveaevpdvd lecpdaklkg pkfkmpemhf kapkismpdv
     1861 dlhlkgpkvk gdadvsvpkl egdltgpsvg vevpdvelec pdaklkgpkf kmpdmhfkap
     1921 kismpdvdlh lkgpkvkgdv dvsvpklegd ltgpsvgvev pdvelecpda klkgpkfkmp
     1981 emhfktpkis mpdvdlhlkg pkvkgdmdvs vpkvegemkv pdvdikgpkm didapdvdvh
     2041 gpdwhlkmpk mkmpkfsmpg fkaegpevdv nlpkadvvvs gpkvdvevpd vslegpegkl
     2101 kgpklkmpem hfkapkismp dvdlhlkgpk vkgdvdvslp klegdltgps vdvevpdvel
     2161 ecpdaklkgp kfkmpemhfk tpkismpdvn lnlkgpkvkg dmdvsvpkve gemkvpdvdi
     2221 rgpkvdidap dvdvhgpdwh lkmpkmkmpk fsmpgfkgeg pevdvnlpka dvdvsgpkvd
     2281 vevpdvsleg pegklkgpkf kmpemhfktp kismpdvdfn lkgpkikgdv dvsapklege
     2341 lkgpeldvkg pkldadmpev avegpngkwk tpkfkmpdmh fkapkismpd ldlhlkspka
     2401 kgevdvdvpk legdlkgphv dvsgpdidie gpegklkgpk fkmpdmhfka pnismpdvdl
     2461 nlkgpkikgd vdvsvpeveg klevpdmnir gpkvdvnapd vqapdwhlkm pkmkmpkfsm
     2521 pgfkaegpev dvnlpkadvd isgpkvdieg pdvniegpeg klkgpklkmp emnikapkis
     2581 mpdfdlhlkg pkvkgdvdvs lpkvegdlkg pevdikgpkv dinapdvgvq gpdwhlkmpk
     2641 vkmpkfsmpg fkgegpdgdv klpkadidvs gpkvdiegpd vniegpegkl kgpkfkmpem
     2701 nikapkismp didlnlkgpk vkgdvdvslp kvegdlkgpe vdikgpkvdi dapdvdvhgp
     2761 dwhlkmpkik mpkismpgfk gegpdvdvnl pkadidvsgp kvdvecpdvn iegpegkwks
     2821 pkfkmpemhf ktpkismpdi dlnltgpkik gdvdvtgpkv egdlkgpevd lkgpkvdidv
     2881 pdvnvqgpdw hlkmpkmkmp kfsmpgfkae gpevdvnlpk advdvsgpkv dvegpdvnie
     2941 gpegklkgpk fkmpemnika pkipmpdfdl hlkgpkvkgd vdislpkveg dlkgpevdir
     3001 gpqvdidvpd vgvqgpdwhl kmpkvkmpkf smpgfkgegp dvdvnlpkad ldvsgpkvdi
     3061 dvpdvniegp egklkgpkfk mpemnikapk ismpdidlnl kgpkvkgdmd vslpkvegdm
     3121 kvpdvdikgp kvdinapdvd vqgpdwhlkm pkikmpkism pgfkgegpev dvnlpkadld
     3181 vsgpkvdvdv pdvniegpda klkgpkfkmp emnikapkis mpdldlnlkg pkmkgevdvs
     3241 lanvegdlkg paldikgpki dvdapdidih gpdaklkgpk lkmpdmhvnm pkismpeidl
     3301 nlkgsklkgd vdvsgpkleg dikapsldik gpevdvsgpk lniegkskks rfklpkfnfs
     3361 gskvqtpevd vkgkkpdidi tgpkvdinap dvevqgkvkg skfkmpflsi sspkvsmpdv
     3421 elnlkspkvk gdldiagpnl egdfkgpkvd ikapevnlna pdvdvhgpdw nlkmpkmkmp
     3481 kfsvsglkae gpdvavdlpk gdiniegpsm niegpdlnve gpegglkgpk fkmpdmnika
     3541 pkismpdidl nlkgpkvkgd vdislpkleg dlkgpevdik gpkvdinapd vdvhgpdwhl
     3601 kmpkvkmpkf smpgfkgegp evdvtlpkad idisgpnvdv dvpdvniegp daklkgpkfk
     3661 mpemnikapk ismpdfdlnl kgpkmkgdvv vslpkvegdl kgpevdikgp kvdidtpdin
     3721 iegsegkfkg pkfkipemhl kapkismpdi dlnlkgpkvk gdvdvslpkm egdlkgpevd
     3781 ikgpkvdina pdvdvqgpdw hlkmpkvkmp kfsmpgfkge gpdvdvnlpk adldvsgpkv
     3841 didvpdvnie gpegklkgpk fkmpemnika pkismpdidl nlkgpkvkgd mdvslpkveg
     3901 dmqvpdldik gpkvdinapd vdvrgpdwhl kmpkikmpki smpgfkgegp evdvnlpkad
     3961 ldvsgpkvdv dvpdvniegp daklkgpkfk mpemnikapk ismpdfdlhl kgpkvkgdvd
     4021 vslpkmegdl kapevdikgp kvdidapdvd vhgpdwhlkm pkvkmpkfsm pgfkgegpev
     4081 dvnlpkadid vsgpkvdidt pdidihgpeg klkgpkfkmp dlhlkapkis mpevdlnlkg
     4141 pkmkgdvdvs lpkvegdlkg pevdikgpkv didvpdvdvq gpdwhlkmpk vkmpkfsmpg
     4201 fkgegpdvdv nlpkadldvs gpkvdidvpd vniegpdakl kgpkfkmpem nikapkismp
     4261 dfdlhlkgpk vkgdvdvslp kvegdlkgpe vdikgpkvdi dapdvdvhgp dwhlkmpkvk
     4321 mpkfsmpgfk gegpdvdvtl pkadieisgp kvdidapdvs iegpdaklkg pkfkmpemni
     4381 kapkismpdi dfnlkgpkvk gdvdvslpkv egdlkgpeid ikgpsldidt pdvniegpeg
     4441 klkgpkfkmp emnikapkis mpdfdlhlkg pkvkgdvdvs lpkvesdlkg pevdiegpeg
     4501 klkgpkfkmp dvhfkspqis msdidlnlkg pkikgdmdis vpklegdlkg pkvdvkgpkv
     4561 gidtpdidih gpegklkgpk fkmpdlhlka pkismpevdl nlkgpkvkgd mdislpkveg
     4621 dlkgpevdir dpkvdidvpd vdvqgpdwhl kmpkvkmpkf smpgfkgegp dvdvnlpkad
     4681 idvsgpkvdv dvpdvniegp daklkgpkfk mpemsikapk ismpdidlnl kgpkvkgdvd
     4741 vtlpkvegdl kgpeadikgp kvdintpdvd vhgpdwhlkm pkvkmpkfsm pgfkgegpdv
     4801 dvslpkadid vsgpkvdvdi pdvniegpda klkgpkfkmp einikapkis ipdvdldlkg
     4861 pkvkgdfdvs vpkvegtlkg pevdlkgprl dfegpdakls gpslkmpsle isapkvtapd
     4921 vdlhlkapki gfsgpklegg evdlkgpkve apsldvhmds pdiniegpdv kipkfkkpkf
     4981 gfgakspkad ikspsldvtv peaelnletp eisvggkgkk skfkmpkihm sgpkikakkq
     5041 gfdlnvpgge idaslkapdv dvniagpdaa lkvdvkspkt kktmfgkmyf pdvefdiksp
     5101 kfkaeaplps pklegelqap dlelslpaih vegldikaka pkvkmpdvdi svpkiegdlk
     5161 gpkvqanlga pdinieglda kvktpsfgis apqvsipdvn vnlkgpkikg dvpsvglegp
     5221 dvdlqgpeak ikfpkfsmpk igipgvkmeg ggaevhaqlp slegdlrgpd vklegpdvsl
     5281 kgpgvdlpsv nlsmpkvsgp dldlnlkgps lkgdldasvp smkvhapgln lsgvggkmqv
     5341 ggdgvkvpgi dattklnvga pdvtlrgpsl qgdlavsgdi kcpkvsvgap dlsleasegs
     5401 iklpkmklpq fgistpgsdl hvnakgpqvs gelkgpgvdv nlkgprisap nvdfnlegpk
     5461 vkgslgatge ikgptvgggl pgigvqgleg nlqmpgikss gcdvnlpgvn vklptgqisg
     5521 peikgglkgs evgfhgaapd isvkgpafnm aspesdfgin lkgpkikgga dvsggvsapd
     5581 islgeghlsv kgsggewkgp qvssalnldt skfagglhfs gpkveggvkg gqiglqapgl
     5641 svsgpqghle sgsgkvtfpk mkipkftfsg relvgremgv dvhfpkaeas iqagagdgew
     5701 eesevklkks kikmpkfnfs kpkgkggvtg speasisgsk gdlksskasl gslegeaeae
     5761 asspkgkfsl fkskkprhrs nsfsderefs gpstptgtle feggevsleg gkvkgkhgkl
     5821 kfgtfgglgs kskghyevtg sddetgklqg sgvslaskks rlsssssnds gnkvgiqlpe
     5881 velsvstkke
//
LOCUS       NP_620119                179 aa            linear   PRI 19-FEB-2023
DEFINITION  apoptosis regulator BAX isoform sigma [Homo sapiens].
ACCESSION   NP_620119 NP_620120
VERSION     NP_620119.2
DBSOURCE    REFSEQ: accession NM_138764.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 179)
  AUTHORS   Moujalled DM, Brown FC, Chua CC, Dengler MA, Pomilio G, Anstee NS,
            Litalien V, Thompson E, Morley T, MacRaild S, Tiong IS, Morris R,
            Dun K, Zordan A, Shah J, Banquet S, Halilovic E, Morris E, Herold
            MJ, Lessene G, Adams JM, Huang DCS, Roberts AW, Blombery P and Wei
            AH.
  TITLE     Acquired mutations in BAX confer resistance to BH3-mimetic therapy
            in acute myeloid leukemia
  JOURNAL   Blood 141 (6), 634-644 (2023)
   PUBMED   36219880
  REMARK    GeneRIF: Acquired mutations in BAX confer resistance to BH3-mimetic
            therapy in acute myeloid leukemia.
REFERENCE   2  (residues 1 to 179)
  AUTHORS   Yao Q, Zhang H, Standish C, Grube J, Manas A and Xiang J.
  TITLE     Expression profile of the proapoptotic protein Bax in the human
            brain
  JOURNAL   Histochem Cell Biol 159 (2), 209-220 (2023)
   PUBMED   35951115
  REMARK    GeneRIF: Expression profile of the proapoptotic protein Bax in the
            human brain.
REFERENCE   3  (residues 1 to 179)
  AUTHORS   Zhu X, Chen B and Xu H.
  TITLE     By modulating miR-525-5p/Bax axis, LINC00659 promotes vascular
            endothelial cell apoptosis
  JOURNAL   Immun Inflamm Dis 11 (1), e764 (2023)
   PUBMED   36705418
  REMARK    GeneRIF: By modulating miR-525-5p/Bax axis, LINC00659 promotes
            vascular endothelial cell apoptosis.
REFERENCE   4  (residues 1 to 179)
  AUTHORS   da Silva Lawisch GK, Biolchi V, Kaufmann G, Nicolai G, Capitaneo E,
            Rosembach TR, Zang J, Brum IS and Chies JAB.
  TITLE     The role of FASL, BCL-2 and BAX polymorphisms in brazilian patients
            with prostate cancer and benign prostatic hyperplasia
  JOURNAL   Mol Biol Rep 49 (10), 9445-9451 (2022)
   PUBMED   35988104
  REMARK    GeneRIF: The role of FASL, BCL-2 and BAX polymorphisms in brazilian
            patients with prostate cancer and benign prostatic hyperplasia.
REFERENCE   5  (residues 1 to 179)
  AUTHORS   Al-Zubaidy HFS, Majeed SR and Al-Koofee DAF.
  TITLE     Evaluation of Bax and BCL 2 Genes Polymorphisms in Iraqi Women with
            Breast Cancer
  JOURNAL   Arch Razi Inst 77 (2), 799-808 (2022)
   PUBMED   36284943
  REMARK    GeneRIF: Evaluation of Bax and BCL 2 Genes Polymorphisms in Iraqi
            Women with Breast Cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 179)
  AUTHORS   Salomons GS, Buitenhuis CK, Martinez Munoz C, Verwijs-Jassen M,
            Behrendt H, Zsiros J and Smets LA.
  TITLE     Mutational analysis of Bax and Bcl-2 in childhood acute
            lymphoblastic leukaemia
  JOURNAL   Int J Cancer 79 (3), 273-277 (1998)
   PUBMED   9645350
REFERENCE   7  (residues 1 to 179)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   8  (residues 1 to 179)
  AUTHORS   Apte SS, Mattei MG and Olsen BR.
  TITLE     Mapping of the human BAX gene to chromosome 19q13.3-q13.4 and
            isolation of a novel alternatively spliced transcript, BAX delta
  JOURNAL   Genomics 26 (3), 592-594 (1995)
   PUBMED   7607685
REFERENCE   9  (residues 1 to 179)
  AUTHORS   Miyashita T and Reed JC.
  TITLE     Tumor suppressor p53 is a direct transcriptional activator of the
            human bax gene
  JOURNAL   Cell 80 (2), 293-299 (1995)
   PUBMED   7834749
REFERENCE   10 (residues 1 to 179)
  AUTHORS   Krieger NS, Sessler NE and Bushinsky DA.
  TITLE     Acidosis inhibits osteoblastic and stimulates osteoclastic activity
            in vitro
  JOURNAL   Am J Physiol 262 (3 Pt 2), F442-F448 (1992)
   PUBMED   1558161
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BE396495.1, BC014175.2 and
            AI565203.1.
            On or before Jun 26, 2009 this sequence version replaced
            NP_620120.1, NP_620119.1.
            
            Summary: The protein encoded by this gene belongs to the BCL2
            protein family. BCL2 family members form hetero- or homodimers and
            act as anti- or pro-apoptotic regulators that are involved in a
            wide variety of cellular activities. This protein forms a
            heterodimer with BCL2, and functions as an apoptotic activator. The
            association and the ratio of BAX to BCL2 also determines survival
            or death of a cell following an apoptotic stimulus. This protein is
            reported to interact with, and increase the opening of, the
            mitochondrial voltage-dependent anion channel (VDAC), which leads
            to the loss in membrane potential and the release of cytochrome c.
            The expression of this gene is regulated by the tumor suppressor
            P53 and has been shown to be involved in P53-mediated apoptosis.
            Multiple alternatively spliced transcript variants, which encode
            different isoforms, have been reported for this gene. [provided by
            RefSeq, Dec 2019].
            
            Transcript Variant: This variant (sigma) has an alternate splice
            site in the 3' coding region which causes a frame-shift, compared
            to variant 1. The resulting isoform (sigma) has a shorter and
            different C terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF247393.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..179
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..179
                     /product="apoptosis regulator BAX isoform sigma"
                     /note="apoptosis regulator BAX; bcl2-L-4; bcl-2-like
                     protein 4; BCL2-associated X protein omega; Baxdelta2G9;
                     BCL2 associated X protein; Baxdelta2omega;
                     Baxdelta2G9omega"
                     /calculated_mol_wt=19587
     Region          5..179
                     /region_name="bcl-2"
                     /note="apoptosis regulator; TIGR00865"
                     /db_xref="CDD:273308"
     CDS             1..179
                     /gene="BAX"
                     /gene_synonym="BCL2L4"
                     /coded_by="NM_138764.5:55..594"
                     /note="isoform sigma is encoded by transcript variant
                     sigma"
                     /db_xref="CCDS:CCDS12745.2"
                     /db_xref="GeneID:581"
                     /db_xref="HGNC:HGNC:959"
                     /db_xref="MIM:600040"
ORIGIN      
        1 mdgsgeqprg ggptsseqim ktgalllqgf iqdragrmgg eapelaldpv pqdastkkls
       61 eclkrigdel dsnmelqrmi aavdtdspre vffrvaadmf sdgnfnwgrv valfyfaskl
      121 vlkalctkvp elirtimgwt ldflrerllg wiqdqggwtv tifvagvlta sltiwkkmg
//
LOCUS       NP_775822                871 aa            linear   PRI 12-MAR-2023
DEFINITION  ankyrin repeat and SAM domain-containing protein 6 [Homo sapiens].
ACCESSION   NP_775822 XP_945790 XP_949827 XP_949828 XP_949830 XP_949832
VERSION     NP_775822.3
DBSOURCE    REFSEQ: accession NM_173551.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 871)
  AUTHORS   Schwarz H, Popp B, Airik R, Torabi N, Knaup KX, Stoeckert J, Wiech
            T, Amann K, Reis A, Schiffer M, Wiesener MS and Schueler M.
  TITLE     Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic
            kidney disease through YAP dysregulation
  JOURNAL   Hum Mol Genet 31 (9), 1357-1369 (2022)
   PUBMED   34740236
  REMARK    GeneRIF: Biallelic ANKS6 mutations cause late-onset ciliopathy with
            chronic kidney disease through YAP dysregulation.
REFERENCE   2  (residues 1 to 871)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 871)
  AUTHORS   Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y,
            van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ,
            Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ,
            Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B,
            Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM,
            Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E,
            Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ,
            Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U,
            Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB and
            Roepman R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 871)
  AUTHORS   Gupta GD, Coyaud E, Goncalves J, Mojarad BA, Liu Y, Wu Q,
            Gheiratmand L, Comartin D, Tkach JM, Cheung SW, Bashkurov M,
            Hasegan M, Knight JD, Lin ZY, Schueler M, Hildebrandt F, Moffat J,
            Gingras AC, Raught B and Pelletier L.
  TITLE     A Dynamic Protein Interaction Landscape of the Human
            Centrosome-Cilium Interface
  JOURNAL   Cell 163 (6), 1484-1499 (2015)
   PUBMED   26638075
REFERENCE   5  (residues 1 to 871)
  AUTHORS   Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J,
            Boehlke C, Schell C, Yasunaga T, Helmstadter M, Mergen M, Filhol E,
            Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van
            Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl
            M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer
            F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier
            S, Walz G, Hildebrandt F, Bergmann C and Lienkamp SS.
  TITLE     ANKS6 is a central component of a nephronophthisis module linking
            NEK8 to INVS and NPHP3
  JOURNAL   Nat Genet 45 (8), 951-956 (2013)
   PUBMED   23793029
  REMARK    GeneRIF: ANKS6 as a new NPHP family member that assembles a
            distinct module of nephronophthisis-associated proteins,
            encompassing NEK8, INVS and NPHP3.
REFERENCE   6  (residues 1 to 871)
  AUTHORS   Vieira AR, McHenry TG, Daack-Hirsch S, Murray JC and Marazita ML.
  TITLE     Candidate gene/loci studies in cleft lip/palate and dental
            anomalies finds novel susceptibility genes for clefts
  JOURNAL   Genet Med 10 (9), 668-674 (2008)
   PUBMED   18978678
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 871)
  AUTHORS   Kaisaki PJ, Bergmann C, Brown JH, Outeda P, Lens XM, Peters DJ,
            Gretz N, Gauguier D and Bihoreau MT.
  TITLE     Genomic organization and mutation screening of the human ortholog
            of Pkdr1 associated with polycystic kidney disease in the rat
  JOURNAL   Eur J Med Genet 51 (4), 325-331 (2008)
   PUBMED   18434273
  REMARK    GeneRIF: Location, sequence and structure of the gene encoding
            human SamCystin have been determined.
REFERENCE   8  (residues 1 to 871)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   9  (residues 1 to 871)
  AUTHORS   Stokman,M., Lilien,M. and Knoers,N.
  TITLE     Nephronophthisis-Related Ciliopathies
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27336129
REFERENCE   10 (residues 1 to 871)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL807776.1, BX462630.2,
            BM552108.1, BY994327.1, BC012981.2, AK127702.1, CR749472.1,
            BC064367.1 and AK074328.1.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Mar 4, 2006 this sequence version replaced
            XP_949827.1, XP_949828.1, XP_949830.1, XP_949832.1, XP_945790.1,
            NP_775822.2.
            
            Summary: This gene encodes a protein containing multiple ankyrin
            repeats and a SAM domain. It is thought that this protein may
            localize to the proximal region of the primary cilium, and may play
            a role in renal and cardiovascular development. Mutations in this
            gene have been shown to cause a form of nephronophthisis (NPHP16),
            a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul
            2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR749467.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000353234.5/ ENSP00000297837.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..871
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.33"
     Protein         1..871
                     /product="ankyrin repeat and SAM domain-containing protein
                     6"
                     /note="ankyrin repeat domain 14; samCystin; SAM
                     domain-containing protein 6"
                     /calculated_mol_wt=92088
     Region          8..37
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          12..98
                     /region_name="Ank_4"
                     /note="Ankyrin repeats (many copies); pfam13637"
                     /db_xref="CDD:372654"
     Region          13..75
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          28..54
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          77..106
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          78..108
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          78..105
                     /region_name="Ank_3"
                     /note="Ankyrin repeat; pfam13606"
                     /db_xref="CDD:404492"
     Site            order(79,83..84,87..89,91..92,96,99,108,110,112,116..117,
                     120..122,124..125,129,132,141,143,145,149..150,153..155,
                     157..158,162,165)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          94..>405
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          110..141
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          110..139
                     /region_name="ANK 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Site            138
                     /site_type="hydroxylation"
                     /note="3-hydroxyasparagine. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          143..172
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          143..172
                     /region_name="ANK 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          176..219
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          190..219
                     /region_name="ANK 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          224..253
                     /region_name="ANK 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          225..323
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(226,230..231,234..236,238..239,243,246,323,325,327,
                     331..332,335..337,339..340,344,347,356,359,361,365..366,
                     369..371,373..374,378,381)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          257..289
                     /region_name="ANK 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          291..321
                     /region_name="ANK 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          325..356
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          325..354
                     /region_name="ANK 9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          359..389
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          359..388
                     /region_name="ANK 10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          392..423
                     /region_name="ANK 11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          392..420
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          424..445
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          477..532
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          <484..748
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          565..659
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Site            657
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          672..775
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DC2.2)"
     Site            734
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q68DC2.2)"
     Site            742
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q68DC2.2)"
     Region          771..835
                     /region_name="SAM_ANKS6"
                     /note="SAM domain of ANKS6 (or SamCystin) subfamily;
                     cd09518"
                     /db_xref="CDD:188917"
     Site            823
                     /site_type="other"
                     /note="Essential for ANKS3 interaction.
                     /evidence=ECO:0000250|UniProtKB:P0C0T2; propagated from
                     UniProtKB/Swiss-Prot (Q68DC2.2)"
     CDS             1..871
                     /gene="ANKS6"
                     /gene_synonym="ANKRD14; NPHP16; PKDR1; SAMD6"
                     /coded_by="NM_173551.5:65..2680"
                     /db_xref="CCDS:CCDS43856.1"
                     /db_xref="GeneID:203286"
                     /db_xref="HGNC:HGNC:26724"
                     /db_xref="MIM:615370"
ORIGIN      
        1 mgegglppaf qlllracdqg dtetarrlle pgaaepaerg aepeagaepa gaevagpgaa
       61 aagavgapvp vdcsdeagnt alqfaaaggh eplvrfllrr gasvnsrnhy gwsalmqaar
      121 fghvsvahll ldhgadvnaq nrlgasvltv asrgghlgvv kllleagafv dhhhpsgeql
      181 glggsrdepl ditalmaaiq hgheavvrll mewgadpnha artvgwsplm laaltgrlgv
      241 aqqlvekgan pdhlsvlekt afevaldckh rdlvdyldpl ttvrpktdee krrpdifhal
      301 kmgnfqlvke iadedpshvn lvngdgatpl mlaavtgqla lvqllverha dvdkqdsvhg
      361 wtalmqatyh gnkeivkyll nqgadvtlra kngytafdlv mllndpdtel vrllasvcmq
      421 vnkdkgrpsh qpplphskvr qpwsipvlpd dkgglkswwn rmsnrfrklk lmqtlprgls
      481 snqplpfsde pepaldstmr aapqdktsrs alpdaapvtk dngpgstrge kedtllttml
      541 rngapltrlp sdklkavipp flppssfelw ssdrsrtrhn gkadpmktal pqrasrghpv
      601 ggggtdttpv rpvkfpslpr spassansgn fnhsphssgg ssgvgvsrhg gellnrsggs
      661 idnvlsqiaa qrkkaaglle qkpshrsspv gpapgsspse lpaspaggsa pvgkkletsk
      721 rppsgtstts kstsptltps pspkghtaes svssssshrq skssggsssg titdedeltg
      781 ilkklsleky qpifeeqevd meafltltdg dlkelgiktd gsrqqilaai selnagkgre
      841 rqilqetihn fhssfessas ntrapgnspc a
//
LOCUS       XP_011542505             211 aa            linear   PRI 20-MAR-2023
DEFINITION  deubiquitinase DESI2 isoform X1 [Homo sapiens].
ACCESSION   XP_011542505
VERSION     XP_011542505.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544203.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..211
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..211
                     /product="deubiquitinase DESI2 isoform X1"
                     /calculated_mol_wt=23449
     Region          37..166
                     /region_name="Peptidase_C97"
                     /note="PPPDE putative peptidase domain; pfam05903"
                     /db_xref="CDD:399119"
     CDS             1..211
                     /gene="DESI2"
                     /gene_synonym="C1orf121; CGI-146; DESI; DeSI-2; DESI1;
                     FAM152A; PNAS-4; PPPDE1"
                     /coded_by="XM_011544203.4:21..656"
                     /db_xref="GeneID:51029"
                     /db_xref="HGNC:HGNC:24264"
                     /db_xref="MIM:614638"
ORIGIN      
        1 mrltflkkia qlnyleilvv llsytlkttf qywmneytss igigvfhsgi evygrefayg
       61 ghpypfsgif eispgnasel getfkfkeav vlgstdfled diekiveelg keykgnayhl
      121 mhkncnhfss alseilcgke iprwinrlay fsscipflqs clpkewltpa alqssvsqel
      181 qdeleeaeda aasasvasta agsrpgrhtk l
//
LOCUS       XP_016857784             330 aa            linear   PRI 20-MAR-2023
DEFINITION  28S ribosomal protein S29, mitochondrial isoform X6 [Homo sapiens].
ACCESSION   XP_016857784
VERSION     XP_016857784.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002295.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..330
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..330
                     /product="28S ribosomal protein S29, mitochondrial isoform
                     X6"
                     /calculated_mol_wt=37770
     Region          58..325
                     /region_name="DAP3"
                     /note="Mitochondrial ribosomal death-associated protein 3;
                     pfam10236"
                     /db_xref="CDD:431160"
     CDS             1..330
                     /gene="DAP3"
                     /gene_synonym="bMRP-10; DAP-3; MRP-S29; MRPS29; S29mt"
                     /coded_by="XM_017002295.2:333..1325"
                     /db_xref="GeneID:7818"
                     /db_xref="HGNC:HGNC:2673"
                     /db_xref="MIM:602074"
ORIGIN      
        1 mmlkgitrli srihkakhgd qhegqhynis pqdletvfph glpprfvmqv ktfseaclmv
       61 rkpalellhy lkntsfaypa iryllygekg tgktlslchv ihfcakqdwl ilhipdahlw
      121 vkncrdllqs synkqrfdqp leastwlknf kttnerflnq gitrvrnatd avgivlkelk
      181 rqsslgmfhl lvavdginal wgrttlkred kspiapeela lvhnlrkmmk ndwhggaivs
      241 alsqtgslfk prkaylpqel lgkegfdald pfipilvsny npkefesciq yylennwlqh
      301 ekapteegkk ellflsnanp sllerhcayl
//
LOCUS       XP_047288071             568 aa            linear   PRI 20-MAR-2023
DEFINITION  dual specificity tyrosine-phosphorylation-regulated kinase 3
            isoform X1 [Homo sapiens].
ACCESSION   XP_047288071
VERSION     XP_047288071.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432115.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..568
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..568
                     /product="dual specificity
                     tyrosine-phosphorylation-regulated kinase 3 isoform X1"
                     /calculated_mol_wt=63846
     Region          123..502
                     /region_name="PKc_DYRK2_3"
                     /note="Catalytic domain of the protein kinases,
                     Dual-specificity tYrosine-phosphorylated and -Regulated
                     Kinases 2 and 3; cd14224"
                     /db_xref="CDD:271126"
     Site            order(195..199,203,216,218,232,252,268..271,274,276..277,
                     315,317,319..320,322,335,338,347,349..352,354,391)
                     /site_type="active"
                     /db_xref="CDD:271126"
     Site            order(195..199,203,216,218,252,268..271,274,315,317,
                     319..320,322,335)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271126"
     Site            order(232,276,315,317,338,347,349..352,354,391)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271126"
     Site            334..354
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271126"
     CDS             1..568
                     /gene="DYRK3"
                     /gene_synonym="DYRK5; hYAK3-2; RED; REDK"
                     /coded_by="XM_047432115.1:328..2034"
                     /db_xref="GeneID:8444"
                     /db_xref="HGNC:HGNC:3094"
                     /db_xref="MIM:603497"
ORIGIN      
        1 mkwkeklgdg vydtfmmide tkcppcsnvl cnpseppppr rlnmtteqft gdhtqhfldg
       61 gemkveqlfq efgnrksnti qsdgisdsek csptvsqgks sdclntvksn ssskapkvvp
      121 ltpeqalkqy khhltayekl eiinypeiyf vgpnakkrhg viggpnnggy ddadgayihv
      181 prdhlayrye vlkiigkgsf gqvarvydhk lrqyvalkmv rnekrfhrqa aeeirilehl
      241 kkqdktgsmn vihmlesftf rnhvcmafel lsidlyelik knkfqgfsvq lvrkfaqsil
      301 qsldalhknk iihcdlkpen illkhhgrss tkvidfgssc feyqklytyi qsrfyrapei
      361 ilgsrystpi diwsfgcila elltgqplfp gedegdqlac mmellgmppp klleqskrak
      421 yfinskgipr ycsvttqadg rvvlvggrsr rgkkrgppgs kdwgtalkgc ddylfieflk
      481 rclhwdpsar ltpaqalrhp wisksvprpl ttidkvsgkr vvnpasafqg lgsklppvvg
      541 ianklkanlm setngsiplc svlpklis
//
LOCUS       XP_047283900            1327 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 66 isoform X6 [Homo sapiens].
ACCESSION   XP_047283900
VERSION     XP_047283900.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427944.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1327
                     /product="tripartite motif-containing protein 66 isoform
                     X6"
                     /calculated_mol_wt=146769
     Region          112..148
                     /region_name="Bbox1_TRIM66"
                     /note="B-box-type 1 zinc finger found in tripartite
                     motif-containing protein 66 (TRIM66) and similar proteins;
                     cd19811"
                     /db_xref="CDD:380869"
     Region          171..213
                     /region_name="Bbox2_TRIM66-like"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein 66 (TRIM66) and similar proteins;
                     cd19794"
                     /db_xref="CDD:380852"
     Region          216..341
                     /region_name="BBC"
                     /note="B-Box C-terminal domain; smart00502"
                     /db_xref="CDD:128778"
     Region          1080..1128
                     /region_name="PHD_SF"
                     /note="PHD finger superfamily; cl22851"
                     /db_xref="CDD:451427"
     Site            order(1083,1093..1096,1100,1120)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:276966"
     Region          1153..1261
                     /region_name="Bromo_tif1_like"
                     /note="Bromodomain; tif1_like subfamily. Tif1
                     (transcription intermediary factor 1) is a member of the
                     tripartite motif (TRIM) protein family, which is
                     characterized by a particular domain architecture. It
                     functions by recruiting coactivators and/or...; cd05502"
                     /db_xref="CDD:99934"
     Site            order(1181,1185,1188,1230,1234,1240)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99934"
     CDS             1..1327
                     /gene="TRIM66"
                     /gene_synonym="C11orf29; TIF1D; TIF1DELTA"
                     /coded_by="XM_047427944.1:649..4632"
                     /db_xref="GeneID:9866"
                     /db_xref="HGNC:HGNC:29005"
                     /db_xref="MIM:612000"
ORIGIN      
        1 marlsfwsqg velarstrcf spedisgkap vlgtgmavdm gmsfmglpla gqkhcpksgq
       61 meamvmtcsl chqdlpelis cpgcervylt rdvtehfflh cvpteqpkma rncseckekr
      121 aahilctycn rwlcssctee hrhspvpggp ffpraqkgsp gvnggpgdft lycplhtqev
      181 lklfcetcdm ltchsclvve hkehrcrhve evlqnqrmll egvttqvahk ksslqtsakq
      241 iedrifevkh qhrkvenqik makmvlmnel nkqangliee legitnerkr kleqqlqsim
      301 vlnrqfehvq nfinwavcsk tsvpflfske livfqmqrll etscntdpgs pwsirftwep
      361 nfwtkqlasl gcitteggqm sradapaygg lqgsspfyqs hqspvaqqea lshpshkfqs
      421 pavcsssvcc shcspvspsl kgqvpppsih pahsfrqppe mvpqqlgslq csallpreke
      481 lacsphppkl lqpwletqpp veqestsqrl gqqltsqpvc ivppqdvqqg ahaqptlqtp
      541 siqvqfghhq klklshfqqq pqqqlppppp plphpppplp pppqqphppl ppsqhlassq
      601 hesppgpacs qnmdimhhkf eleemqkdle lllqaqqpsl qlsqtkspqh lqqtivgqin
      661 yivrqpapvq sqsqeetlqa tdeppasqgs kpalpldknt aaalpqasge etplsvppvd
      721 stiqhsspnv vrkhstslsi mgfsntleme lsstrlerpl epqiqsvsnl tagapqavps
      781 llsappkmvs sltsvqnqam pslttshlqt vpslvhstfq smpnlisdsp qamaslasdh
      841 pqagpslmsg htqavpslat cplqsippvs dmqpetgsss ssgrtsgslc prdgadpsle
      901 nalckmesed strftdllgq gpivpgldap kdlaipsele epinlsvkkp plapvvstst
      961 alqqyqnpke cenfeqgale ldakenqsir afnsehkipy vrlerlkica assgempvfk
     1021 lkpqkndqdg sflliiecgt esssmsikrp pevegtspee hrliprtpga kkgppapien
     1081 edfcavclng gellccdrcp kvfhlschvp allsfpggew vctlcrsltq pemeydcena
     1141 cynqpgmras pglsmydqkk ceklvlslcc nnlslpfhep vsplarhyyq iikrpmdlsi
     1201 irrklqkkdp ahyttpeevv sdvrlmfwnc akfnypdsev aeagrclevf fegwlkeiyp
     1261 ekrfaqprqe dsdseevsse sgcstpqgfp wppymqegiq pkrrrrhmen erakrmsfrl
     1321 ansisqv
//
LOCUS       XP_006719576            1199 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and sterile alpha motif domain-containing protein 1B
            isoform X10 [Homo sapiens].
ACCESSION   XP_006719576
VERSION     XP_006719576.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006719513.5
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 5% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1199
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1199
                     /product="ankyrin repeat and sterile alpha motif
                     domain-containing protein 1B isoform X10"
                     /calculated_mol_wt=132371
     Region          7..385
                     /region_name="PHA02874"
                     /note="ankyrin repeat protein; Provisional"
                     /db_xref="CDD:165205"
     Region          7..56
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(58,60,64..65,68..70,72..73,77,80,89,91,93,97..98,
                     101..103,105..106,110,113,125,127,129,133..134,137..139,
                     141..142,146,149,158)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          58..89
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          63..158
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          91..125
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          127..158
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          160..191
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          165..256
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          193..223
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          226..256
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          811..877
                     /region_name="SAM_AIDA1AB-like_repeat1"
                     /note="SAM domain of AIDA1AB-like proteins, repeat 1;
                     cd09499"
                     /db_xref="CDD:188898"
     Site            order(833..836,838,840..841,844..845,847..848,851,
                     854..855)
                     /site_type="other"
                     /note="intramolecular dimer interface ML [polypeptide
                     binding]"
                     /db_xref="CDD:188898"
     Region          882..946
                     /region_name="SAM_AIDA1AB-like_repeat2"
                     /note="SAM domain of AIDA1AB-like proteins, repeat 2;
                     cd09500"
                     /db_xref="CDD:188899"
     Site            order(932..935,937..938)
                     /site_type="other"
                     /note="intramolecular dimer interface EH [polypeptide
                     binding]"
                     /db_xref="CDD:188899"
     Region          986..1135
                     /region_name="PTB_Anks"
                     /note="Ankyrin repeat and sterile alpha motif (SAM)
                     domain-containing (Anks) protein family
                     Phosphotyrosine-binding (PTB) domain; cd01274"
                     /db_xref="CDD:269972"
     Site            order(1005,1084,1104)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269972"
     Site            order(1073..1078,1091,1115,1119)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269972"
     CDS             1..1199
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /coded_by="XM_006719513.5:700..4299"
                     /db_xref="GeneID:56899"
                     /db_xref="HGNC:HGNC:24600"
                     /db_xref="MIM:607815"
ORIGIN      
        1 mgkdqellea artgnvalve kllsgrkggi lgggsgplpl snllsiwrgp nvnctdssgy
       61 talhhaalng hkdivlkllq yeastnvadn kgyfpihlaa wkgdveivki lihhgpshsr
      121 vneqnnenet alhcaaqygh sevvavllee ltdptirnsk letpldlaal ygrlrvvkmi
      181 isahpnlmsc ntrkhtplhl aarnghkavv qvlleagmdv scqtekgsal heaalfgkvd
      241 vvrvlletgi danikdslgr tvldilkehp sqkslqiatl lqeylegvgr stvleepvqe
      301 datqethiss pvespsqktk setvtgelsk lldeiklcqe kdysfedlch tisdhyldnl
      361 skiseeelgk ngsqsvrtss tinlspgeve eedddentcg psglwealtp cngcrnlgfp
      421 mlaqesypkk rnytmeivps asldtfpsen enflcdlmdt avtkkpcsle iarapsprtd
      481 nasevavttp gtsnhrnsst gptpdcspps pdtalknivk virpqpkqrt sivssldfhr
      541 mnhnqeyfei ntstgctsft asppasppts svgttevkne gtnhtddlsr qddndppkey
      601 dpgqfagllh gsspacespe npfhlygkre qcekgqdevs lansplpfkq spiennsepl
      661 vkkikpkvvs rtifhkksnq lenhtivgtr strsgsrngd qwvmnaggfv eractlgrir
      721 slpkalidmh lsksvsksds dliaypsnek tsrvnwsess taehsskgns ertpsftsew
      781 eeidkimssi dvginnelke mngettrprc pvqtvgqwle siglpqyenh lmangfdnvq
      841 fmgsnvmedq dlleigilns ghrqrilqai qllpkmrpig hdgyhptsva ewldsielgd
      901 ytkaflingy tsmdllkkiw evelinvlki nlighrkril aslgdrlhdd ppqkpprsit
      961 lrtgdwgeps itlrppneat astpvqywqh hpeklifqsc dykafylgsm likelrgtes
     1021 tqdacakmra ncqksteqmk kvptiilsvs ykgvkfidat nkniiaehei rniscaaqdp
     1081 edlstfayit kdlksnhhyc hvftafdvnl ayeiiltlgq afevayqlal qarkgghsst
     1141 lpesfenkps kpipkprvsi rksvidpseq ktlanlpwiv epgqeakrgi ntkyettif
//
LOCUS       XP_011534669            1174 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein phosphatase non-receptor type 21 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011534669
VERSION     XP_011534669.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011536367.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1174
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1174
                     /product="tyrosine-protein phosphatase non-receptor type
                     21 isoform X1"
                     /calculated_mol_wt=133151
     Region          20..106
                     /region_name="FERM_F1_PTPN21"
                     /note="FERM (Four.1 protein, Ezrin, Radixin, Moesin)
                     domain, F1 sub-domain, found in tyrosine-protein
                     phosphatase non-receptor type 21 (PTPN21) and similar
                     proteins; cd17192"
                     /db_xref="CDD:340712"
     Region          24..222
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          217..307
                     /region_name="FERM_C_PTPN14_PTPN21"
                     /note="FERM domain C-lobe of Protein tyrosine phosphatase
                     non-receptor proteins 14 and 21 (PTPN14 and 21); cd13188"
                     /db_xref="CDD:270009"
     Site            order(226,243,245,252)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270009"
     Site            order(256,261..264,294,298,301..302)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270009"
     Site            294..305
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270009"
     Region          883..1169
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     CDS             1..1174
                     /gene="PTPN21"
                     /gene_synonym="PTPD1; PTPRL10"
                     /coded_by="XM_011536367.4:520..4044"
                     /db_xref="GeneID:11099"
                     /db_xref="HGNC:HGNC:9651"
                     /db_xref="MIM:603271"
ORIGIN      
        1 mplpfglklk rtrrytvssk sclvariqll nnefveftls vestgqesle avaqrlelre
       61 vtyfslwyyn kqnqrrwvdl ekplkkqldk yaleptvyfg vvfyvpsvsq lqqeitryqy
      121 ylqlkkdile gsipctleqa iqlaglavqa dfgdfdqyes qdflqkfalf pvgwlqdekv
      181 leeatqkval lhqkyrglta pdaemlymqe vermdgygee sypakdsqgs disigacleg
      241 ifvkhkngrh pvvfrwhdia nmshnksffa lelankeeti qfqtedmeta kyiwrlcvar
      301 hkfyrlnqcn lqtqtvtvnp irrrsssrms lpkpqpyvmp pppqlhyngh ytepyassqd
      361 nlfvpnqngy ychsqtsldr aqidlngrir ngsvysahst nslnnpqpyl qpspmssnps
      421 itgsdvmrpd ylpshrhsav ippsyrptpd yetvmkqlnr glvhaerqsh slrnlnigss
      481 yaysrpaalv ysqpeireha qlpspaaahc pfslsysfhs pspypypaer rpvvgavsvp
      541 eltnaqlqaq dypspnimrt qvyrppppyp pprpanstpd lsrhlyisss npdlitrrvh
      601 hsvqtfqeds lpvahslqev sepltaarha qlhkrnsiev aglshglegl rlkertlsas
      661 aaevapravs vgsqpsvfte rtqregpeea eglryghkks lsdatmlihs seeeededfe
      721 eesgarappa rareprpgla qdppgcprvl lagplhilep kahvpdaekr mmdsspvrtt
      781 aeaqrpwrdg llmpsmsesd lttsgryrar rdslkkrpvs dllsgkkniv eglpplggmk
      841 ktrvdakkig plklaalngl slsrvplpde gkevatratn derckileqr leqgmvftey
      901 erilkkrlvd gecstarlpe naernrfqdv lpyddvrvel vptkenntgy inashikvsv
      961 sgiewdyiat qgplqntcqd fwqmvweqgi aiiamvtaee eggreksfry wprlgsrhnt
     1021 vtygrfkitt rfrtdsgcya ttglkmkhll tgqertvwhl qytdwpehgc pedlkgflsy
     1081 leeiqsvrrh tnstsdpqsp nppllvhcsa gvgrtgvvil seimiacleh nevldiprvl
     1141 dmlrqqrmml vqtlcqytfv yrvliqflks srli
//
LOCUS       XP_047292364             327 aa            linear   PRI 20-MAR-2023
DEFINITION  dual specificity mitogen-activated protein kinase kinase 3 isoform
            X3 [Homo sapiens].
ACCESSION   XP_047292364
VERSION     XP_047292364.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436408.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..327
                     /product="dual specificity mitogen-activated protein
                     kinase kinase 3 isoform X3"
                     /calculated_mol_wt=36293
     Region          62..>260
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(70..73,76,78,91,93,124,140..143,190,194..195,197,
                     207..208)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     CDS             1..327
                     /gene="MAP2K3"
                     /gene_synonym="MAPKK3; MEK3; MKK3; PRKMK3; SAPKK-2;
                     SAPKK2"
                     /coded_by="XM_047436408.1:211..1194"
                     /db_xref="GeneID:5606"
                     /db_xref="HGNC:HGNC:6843"
                     /db_xref="MIM:602315"
ORIGIN      
        1 mespassqpa smpqskgksk rkkdlriscm skppapnptp prnldsrtfi tigdrnfeve
       61 addlvtisel grgaygvvek vrhaqsgtim avkriratvn sqeqkrllmd ldinmrtvdc
      121 fytvtfygal fregdvwicm elmdtsldkf yrkvldknmt ipedilgeia vsivralehl
      181 hsklsvihrd vkpsnvlink eghvkmcdfg isgylvdsva ktmdagckpy maperinpel
      241 nqkgynvksd vwslgitmpe eeprrayelp gadgapllhl aqnqedghcc lregdpgrrl
      301 igagprtplr psrapqphlr gqcsptp
//
LOCUS       XP_011523776             231 aa            linear   PRI 20-MAR-2023
DEFINITION  glucose-6-phosphatase 3 isoform X1 [Homo sapiens].
ACCESSION   XP_011523776
VERSION     XP_011523776.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011525474.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..231
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..231
                     /product="glucose-6-phosphatase 3 isoform X1"
                     /calculated_mol_wt=25448
     Region          <1..155
                     /region_name="PAP2_like"
                     /note="PAP2_like proteins, a super-family of histidine
                     phosphatases and vanadium haloperoxidases, includes type 2
                     phosphatidic acid phosphatase or lipid phosphate
                     phosphatase (LPP), Glucose-6-phosphatase,
                     Phosphatidylglycerophosphatase B and bacterial acid...;
                     cl00474"
                     /db_xref="CDD:444927"
     CDS             1..231
                     /gene="G6PC3"
                     /gene_synonym="SCN4; UGRP"
                     /coded_by="XM_011525474.4:820..1515"
                     /db_xref="GeneID:92579"
                     /db_xref="HGNC:HGNC:24861"
                     /db_xref="MIM:611045"
ORIGIN      
        1 mitgaalwpi mtalssqvat rarsrwvrvm pslayctfll avglsrifil ahfphqvlag
       61 litgavlgwl mtprvpmere lsfygltala lmlgtsliyw tlftlgldls wsislafkwc
      121 erpewihvds rpfaslsrds gaalglgial hspcyaqvrr aqlgngqkia clvlamgllg
      181 pldwlghppq islfyifnfl kytlwpclvl alvpwavhmf saqeappihs s
//
LOCUS       XP_047300584             757 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing and planar cell polarity effector protein
            fritz homolog isoform X2 [Homo sapiens].
ACCESSION   XP_047300584
VERSION     XP_047300584.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444628.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..757
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..757
                     /product="WD repeat-containing and planar cell polarity
                     effector protein fritz homolog isoform X2"
                     /calculated_mol_wt=86962
     Region          55..598
                     /region_name="Frtz"
                     /note="WD repeat-containing and planar cell polarity
                     effector protein Fritz; pfam11768"
                     /db_xref="CDD:432059"
     CDS             1..757
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /coded_by="XM_047444628.1:538..2811"
                     /db_xref="GeneID:51057"
                     /db_xref="HGNC:HGNC:28027"
                     /db_xref="MIM:613580"
ORIGIN      
        1 mdrdsfchqm sfcltelhlw slkntlhiad rdigiyqyyd kkdppatehg nlekkqklae
       61 srdypwtlkn rrpeklrdsl keleelmqns rcvlskwknk yvcqllfgsg vlvslslsgp
      121 qlekvvidrs lvgklisdti sdalltdsfi ilsflaqnkl cfiqftkkme ssdvnkrlek
      181 lsaldykify yeipgpinkt terhlaincv hdrvvcwwpl vnddawpwap issekdranl
      241 lllgyaqgrl evlssvrtew dpldvrfgtk qpyqvftveh svsvdkepma dsciyecirn
      301 kiqcvsvtri plkskaiscc rnvtedklil gcedsslily ethrrvtlla qtellpslis
      361 chpsgaillv gsnqgelqif dmalspiniq llaedrlpre tlqfsklfda ssslvqmqwi
      421 apqvvsqkge gsdiydllfl rfergplgvl lfklgvftrg qlglidiifq yihcdeiyea
      481 inilssmnwd tlghqcfism saivnhllrq kltpereaql etslgtfyap trplldstil
      541 eyrdqiskya rrffhhllry qrfekaflla vdvgardlfm dihylaldkg elalaevark
      601 rasdidaesi tsgvellgpl drgdmlneaf iglslapqge dsfpdnlpps cpthrhilqq
      661 rilngssnrr rterrrqrtg nqrwwfsqnd slwsgvnikk krklpssyln fswpdtdlks
      721 pvwifnkrqy esyklvksfe lsvcfqnkvl lfqkhaa
//
LOCUS       XP_011527006             969 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc fingers and homeoboxes protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_011527006
VERSION     XP_011527006.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011528704.4
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..969
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..969
                     /product="zinc fingers and homeoboxes protein 3 isoform
                     X1"
                     /calculated_mol_wt=105849
     Region          105..157
                     /region_name="zf_C2H2_ZHX"
                     /note="Zinc-fingers and homeoboxes C2H2 finger domain;
                     pfam18387"
                     /db_xref="CDD:436457"
     Region          313..363
                     /region_name="homeodomain"
                     /note="Homeodomain; DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; cd00086"
                     /db_xref="CDD:238039"
     Region          500..553
                     /region_name="homeodomain"
                     /note="Homeodomain; DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; cd00086"
                     /db_xref="CDD:238039"
     Site            order(500,540,543..544,547)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          621..666
                     /region_name="HOX"
                     /note="Homeodomain; smart00389"
                     /db_xref="CDD:197696"
     Region          769..823
                     /region_name="homeodomain"
                     /note="Homeodomain; DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; cd00086"
                     /db_xref="CDD:238039"
     Site            order(770,810,813..814,817)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          <850..893
                     /region_name="Homez"
                     /note="Homeodomain leucine-zipper encoding, Homez;
                     pfam11569"
                     /db_xref="CDD:431938"
     CDS             1..969
                     /gene="ZHX3"
                     /gene_synonym="TIX1"
                     /coded_by="XM_011528704.4:400..3309"
                     /db_xref="GeneID:23051"
                     /db_xref="HGNC:HGNC:15935"
                     /db_xref="MIM:609598"
ORIGIN      
        1 maskrksttp cmipvktvvl qdasmeaqpa etlpegpqqd lppeasaass eaaqnpsstd
       61 gstlanghrs tldgylysck ycdfrshdmt qfvghmnseh tdfnkdptfv csgcsflakt
      121 peglslhnat chsgeasfvw nvakpdnhvv veqsipests tpdlagepsa egadgqaeii
      181 itktpimkim kgkaeakkih tlkenvpsqp vgealpklst gemevregdh sfingavpvs
      241 qasassaknp haangpligt vpvlpagiaq flslqqqppv haqhhvhqpl ptakalpkvm
      301 iplssiptyn aamdsnsflk nsfhkfpypt kaelcyltvv tkypeeqlki wftaqrlkqg
      361 iswspeeied arkkmfntvi qsvpqptitv lntplvasag nvqhliqaal pghvvgqpeg
      421 tgggllvtqp lmanglqats splpltvtsv pkqpgvapin tvcsnttsav kvvnaaqsll
      481 tacpsitsqa fldasiyknk ksheqlsalk gsfcrnqfpg qsevehltkv tglstrevrk
      541 wfsdrryhcr nlkgsramip gdhssiiids vpevsfspss kvpevtcipt tatlathpsa
      601 krqswhqtpd ftptkykera peqlraless faqnplplde eldrlrsetk mtrreidswf
      661 serrkkvnae etkkaeenas qeeeeaaede ggeedlasel rvsgengsle mpsshilaer
      721 kvspikinlk nlrvteangr neipglgacd peddesnkla eqlpgkvsck ktaqqrhllr
      781 qlfvqtqwps nqdydsimaq tglprpevvr wfgdsryalk ngqlkwyedy krgnfppgll
      841 viapgnrell qdyymthkml yeedlqnlcd ktqmssqqvk qwfaekmgee travadtgse
      901 dqgpgtgelt avhkgmgdty sevsensesw eprvpeasse pfdtsspqag rqlgswslss
      961 qplpslltl
//
LOCUS       XP_005261703             353 aa            linear   PRI 20-MAR-2023
DEFINITION  lactosylceramide 4-alpha-galactosyltransferase isoform X1 [Homo
            sapiens].
ACCESSION   XP_005261703
VERSION     XP_005261703.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005261646.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..353
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..353
                     /product="lactosylceramide 4-alpha-galactosyltransferase
                     isoform X1"
                     /calculated_mol_wt=40368
     CDS             1..353
                     /gene="A4GALT"
                     /gene_synonym="A14GALT; A4GALT1; Gb3S; P(k); P1; P1PK; PK"
                     /coded_by="XM_005261646.5:762..1823"
                     /db_xref="GeneID:53947"
                     /db_xref="HGNC:HGNC:18149"
                     /db_xref="MIM:607922"
ORIGIN      
        1 mskppdlllr llrgaprqrv ctlfiigfkf tffvsimiyw hvvgepkekg qlynlpaeip
       61 cptltpptpp shgptpgnif fletsdrtnp nflfmcsves aarthpeshv lvlmkglpgg
      121 naslprhlgi sllscfpnvq mlpldlrelf rdtpladwya avqgrwepyl lpvlsdasri
      181 almwkfggiy ldtdfivlkn lrnltnvlgt qsryvlngaf laferrhefm alcmrdfvdh
      241 yngwiwghqg pqlltrvfkk wcsirslaes racrgvttlp peafypipwq dwkkyfedin
      301 peelprllsa tyavhvwnkk sqgtrfeats rallaqlhar ycpttheamk myl
//
LOCUS       XP_016869409            1046 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat and coiled-coil domain-containing protein 1
            isoform X1 [Homo sapiens].
ACCESSION   XP_016869409
VERSION     XP_016869409.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017013920.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1046
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1046
                     /product="leucine-rich repeat and coiled-coil
                     domain-containing protein 1 isoform X1"
                     /calculated_mol_wt=120935
     Region          30..216
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          45..66
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          67..88
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          89..110
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          111..136
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          137..150
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          185..207
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          223..241
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <446..>919
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          816..>1043
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1046
                     /gene="LRRCC1"
                     /gene_synonym="CLERC; CLERK; SAP2; VFL1"
                     /coded_by="XM_017013920.2:59..3199"
                     /db_xref="GeneID:85444"
                     /db_xref="HGNC:HGNC:29373"
                     /db_xref="MIM:617791"
ORIGIN      
        1 meaaaavvaa eaevenedgd sscgdvcfmd kglqsisels ldstlhavnl hcnniskiea
       61 idhiwnlqhl dlssnqisri eglntltklc tlnlscnlit kvegleelin ltrlnvsynh
      121 iddlsglipl hgikhklryi dlhsnridsi hhllqcmvgl hfltnlilek dgddnpvcrl
      181 pgtslntvtl pselrgyrav ilqtlpqlri ldcknifgep vnlteinssq lqcleglldn
      241 lvssdsplni sedeiidrmp vitapidelv pleqfastps davltsfmsv cqssepeknn
      301 hendlqneik lqklddqilq llnetsnsid nvlekdprpk rdtditsesd ygnrkecnrk
      361 vprrskipyd aktiqtikhh nknynsfvsc nrkmkppylk elyvssslan cpmlqesekp
      421 kteiikvdqs hsedntyqsl veqldqerek rwraeqaenk lmdyidelhk hanekedihs
      481 lallttdrlk eiifrernsk gqlevmvhkl qneikkltve lmkakdqqed hlkhlrtlek
      541 tlekmerqkr qqqaaqirli qevelkasaa dreiyllrts lhrereqaqq lhqllalkeq
      601 ehrkeletre fftdadfqda lakeiakeek kheqmikeyq ekidvlsqqy mdlenefria
      661 ltvearrfqd vkdgfenvat elakskhali waqrkeness slikdltcmv keqktklaev
      721 sklkqetaan lqnqintlei lieddkqksi qiellkhekv qliselaake slifglrter
      781 kvwghelaqq gsslaqnrgk leaqieslsr eneclrktne sdsdalrikc kiiddqteti
      841 rklkdclqek dehikrlqek iteiekctqe qldekssqld evleklerhn erkeklkqql
      901 kgkeveleei rkaystlnrk whdkgellch letqvkevke kfenkekklk aerdksielq
      961 knameklhsm ddafkrqvda iveahqaeia qlanekqkci dsanlkvhqi ekemrellee
     1021 tcknkktmea kikqlafaln eiqqdm
//
LOCUS       XP_054188844             456 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 43B isoform X1 [Homo sapiens].
ACCESSION   XP_054188844
VERSION     XP_054188844.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332869.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791760) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..456
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.1"
     Protein         1..456
                     /product="tripartite motif-containing protein 43B isoform
                     X1"
                     /calculated_mol_wt=53399
     CDS             1..456
                     /gene="TRIM43B"
                     /coded_by="XM_054332869.1:45..1415"
                     /db_xref="GeneID:653192"
                     /db_xref="HGNC:HGNC:37146"
ORIGIN      
        1 milsftlerk mdsdfshafq keltcvicln ylvdpvticc ghsfcrpclc lsweeaqspa
       61 ncpacrepsp kmdfktnill knlvtiarka slwqflssek qicgthrqtk kmfcdmdksl
      121 lcllcsnsqe hgahkhypie eaaeedrekl lkqmrilwkk iqenqrnlye errtafllrg
      181 dvvlraqmir neyrklhpvl hkeekqhler lnkeyqeifq qlqrswvkmd qkskhlkemy
      241 qelmemchkp evellqdlgd ivarsesvll hmpqpvnpel tagpitglvy rlnrfrveis
      301 fhfevtnhni rlfedvrswm frrgplnsdr sdyfaawgar vfsfgkhywe ldvdnscdwa
      361 lgvcnnswir knstmvnsed iflllclkvd nhfnllttsp vfphyiekpl grvgvfldfe
      421 sgsvsflnvt kssliwsypa gsltfpvrpf fytghr
//
LOCUS       XP_054191180             926 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 47 isoform X3 [Homo sapiens].
ACCESSION   XP_054191180
VERSION     XP_054191180.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335205.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..926
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..926
                     /product="WD repeat-containing protein 47 isoform X3"
                     /calculated_mol_wt=102723
     CDS             1..926
                     /gene="WDR47"
                     /coded_by="XM_054335205.1:251..3031"
                     /db_xref="GeneID:22911"
                     /db_xref="HGNC:HGNC:29141"
                     /db_xref="MIM:615734"
ORIGIN      
        1 mtaeetvnvk eveiiklild flnskklhis mlalekesgv inglfsddml flrqlildgq
       61 wdevlqfiqp lecmekfdkk rfryiilkqk flealcvnna msaedepqhv rflflkleft
      121 mqeavqclha leeycpskdd ysklcllltl prltnhaefk dwnpstarvh cfeeacvmva
      181 efipadrkls eagfkasnnr lfqlvmkgll yeccvefcqs katgeeites evllgidllc
      241 gngcddldls llswlqnlps svfscafeqk mlnihvdkll kptkaayadl ltplisklsp
      301 ypsspmrrpq sadaymtrsl npaldgltcg ltshdkrisd lgnktspmsh sfanfhypgv
      361 qnlsrslmle ntechsiyee sperdtpvda qrpigseilg qssvsekepa ngaqnpgpak
      421 qeknelrdst eqfqeyyrqr lryqqhleqk eqqrqiyqqm lleggvnqed gpdqqqnlte
      481 qflnrsiqkl gelnigmdgl gnevsalnqq cngskgngsn gssvtsfttp pqdssqrlth
      541 dasnihtstp rnpgstnhip fleespcgsq issehsvikp plgdspgsls rskgeeddks
      601 kkqfvcinil edtqavrava fhpagglyav gsnsktlrvc aypdvidpsa hetpkqpvvr
      661 fkrnkhhkgs iycvawspcg qllatgsndk yvkvlpfnae tcnatgpdle fsmhdgtird
      721 lafmegpesg gailisagag dcniyttdcq rgqglhalsg htghilalyt wsgwmiasgs
      781 qdktvrfwdl rvpscvrvvg ttfhgtgsav asvavdpsgr llatgqedss cmlydirggr
      841 mvqsyhphss dvrsvrfspg ahylltgsyd mkikvtdlqg dltkqlpimv vgehkdkviq
      901 crwhtqdlsf lsssadrtvt lwtyng
//
LOCUS       XP_054194600             351 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 124 isoform X2 [Homo sapiens].
ACCESSION   XP_054194600
VERSION     XP_054194600.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338625.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..351
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..351
                     /product="zinc finger protein 124 isoform X2"
                     /calculated_mol_wt=40086
     CDS             1..351
                     /gene="ZNF124"
                     /gene_synonym="HZF-16; HZF16; ZK7"
                     /coded_by="XM_054338625.1:144..1199"
                     /db_xref="GeneID:7678"
                     /db_xref="HGNC:HGNC:12907"
                     /db_xref="MIM:194631"
ORIGIN      
        1 msghpgswem nsvafedvav nftqeewall dpsqknlyrd vmqetfrnla signkgedqs
       61 iedqyknssr nlrhiishsg nnpygceecg kkpctckqcq ktslsvtrvh rdtvmhtgng
      121 hygcticekv fnipssfqih qrnhtgekpy ecmecgkalg fsrslnrhkr ihtgekryec
      181 kqcgkafsrs shlrdherth tgekpyeckh cgkafrysnc lhyherthtg ekpyvcmecg
      241 kafsclsslq ghikahagee pypckqcgka fryasslqkh ekthiaqkpy vcnncgkgfr
      301 cssslrdher thtgekpyec qkcgkafsra stlwkhkkth tgekpykckk m
//
LOCUS       XP_054195509             545 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 697 isoform X1 [Homo sapiens].
ACCESSION   XP_054195509
VERSION     XP_054195509.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339534.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..545
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..545
                     /product="zinc finger protein 697 isoform X1"
                     /calculated_mol_wt=60331
     CDS             1..545
                     /gene="ZNF697"
                     /coded_by="XM_054339534.1:10884..12521"
                     /db_xref="GeneID:90874"
                     /db_xref="HGNC:HGNC:32034"
ORIGIN      
        1 mkqednqgvc ahqdsedkgm gsdfedsedr egdpeeremg snphdtnkre ghpepemgsn
       61 pqdsrhreav pdictegqls eeegvsvrge eddqsgvadm amfpglsesd sisrslredd
      121 desagenrle eeeeqpappv lpwrrhlslg srhrgdkpah rrfhrlhhpm avdlgeldsl
      181 vasimdapti cpdcgesfsp gaaflqhqri hrlaeaaaaa slepfglage cdamvgmmgv
      241 gvaggfgagp plarpprekp frcgecgkgf srntyltnhl rlhtgerpnl cadcgksfsw
      301 radllkhrrl htgekpypcp ecgeafslss hllshrraha aasgagaaal rpfacgecgk
      361 gfvrrshlan hqrihtgekp hgcgecgkrf swrsdlvkhq rvhtgekpym csecgetfsv
      421 sshlfthkrt hsgerpyvcr ecgkgfgrns hlvnhlrvht gekpfrcgqc ekrfsdfstl
      481 tqhqrthtge kpytciecgk sfiqsshlir hrrihtgnkp hkcagcgkgf rykthlaqhq
      541 klhlc
//
LOCUS       XP_054227663             904 aa            linear   PRI 20-MAR-2023
DEFINITION  pre-mRNA-processing factor 40 homolog B isoform X4 [Homo sapiens].
ACCESSION   XP_054227663
VERSION     XP_054227663.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371688.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..904
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..904
                     /product="pre-mRNA-processing factor 40 homolog B isoform
                     X4"
                     /calculated_mol_wt=102220
     CDS             1..904
                     /gene="PRPF40B"
                     /gene_synonym="HYPC"
                     /coded_by="XM_054371688.1:31..2745"
                     /db_xref="GeneID:25766"
                     /db_xref="HGNC:HGNC:25031"
ORIGIN      
        1 msvpdsgprp paapapfppg ppmmpppfmp ppgipppfpp mglppmsqrp paippmppgi
       61 lppmlppmga pppltqipgm vppmmpgmlm pavpvtaata pgadtassav agtgppralw
      121 sehvapdgri yyynaddkqs vwekpsvlks kaelllsqcp wkeyksdtgk pyyynnqske
      181 srwtrpkdld dlevlvkqea agkqqqqlpq tlqpqppqpq pdpppvppgp tpvptgllep
      241 epggsedcdv leatqpleqg flqqleegps ssgqhqpqqe eeeskpeper sglswsnrek
      301 akqafkellr dkavpsnasw eqamkmvvtd prysalpkls ekkqafnayk aqrekeekee
      361 arlrakeakq tlqhfleqhe rmtsttryrr aeqtfgelev wavvperdrk evyddvlffl
      421 akkekeqakq lrrrniqalk sildgmssvn fqttwsqaqq ylmdnpsfaq dhqlqnmdke
      481 dalicfeehi ralereeeee rerarlrerr qqrknreafq tfldelhetg qlhsmstwme
      541 lypavstdvr fanmlgqpgs tpldlfkfyv eelkarfhde kkiikdilkd rgfcvevnta
      601 fedfahvisf dkraaaldag nikltfnsll ekaearerer ekeearrmrr reaafrsmlr
      661 qavpalelgt aweevrerfv cdsafeqitl eserirlfre flqvleqtec qhlhtkgrkh
      721 grkgkkhhhk rshspsgses eeeelpppsl rppkrrrrnp sesgsepsss ldsvesggaa
      781 lggrgspssh llgadhglrk akkpkkktkk rrhksnspes etdpeekagk esdekeqeqd
      841 kdrelqqael pnrspgfgik kekvrgrgpr pvstlvklpr plvqakgelc lcsnrqagtr
      901 qkvs
//
LOCUS       XP_054231888             512 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor IIIB 90 kDa subunit isoform X6 [Homo sapiens].
ACCESSION   XP_054231888
VERSION     XP_054231888.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375913.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..512
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..512
                     /product="transcription factor IIIB 90 kDa subunit isoform
                     X6"
                     /calculated_mol_wt=55859
     CDS             1..512
                     /gene="BRF1"
                     /gene_synonym="BRF; BRF-1; CFDS; GTF3B; hBRF; HEL-S-76p;
                     TAF3B2; TAF3C; TAFIII90; TF3B90; TFIIIB90"
                     /coded_by="XM_054375913.1:430..1968"
                     /db_xref="GeneID:2972"
                     /db_xref="HGNC:HGNC:11551"
                     /db_xref="MIM:604902"
ORIGIN      
        1 mavsrhltrg rkmahviaac lylvcrtegt phmlldlsdl lqvnvyvlgk tflllarelc
       61 inapaiallv aarmhdfrrt vkevisvvkv cestlrkrlt efedtptsql tidefmkidl
      121 eeecdppsyt agqrklrmkq leqvlskkle evegeissyq daieielens rpkakgglas
      181 lakdgstedt asslcgeedt edeeleaaas hlnkdlyrel lggapgssea agspewggrp
      241 palgslldpl ptaaslgisd sirecissqs sdpkdasgdg eldlsgiddl eidryilnes
      301 earvkaelwm renaeylreq rekeariake kelgiykehk pkksckrrep iqastareai
      361 ekmleqkkis skinysvlrg lssagggsph redaqpehsa sarklsrrrt pasrsgadpv
      421 tsvgkrlrpl vstqpakkva tgeallpssp tlgaeparpq avlvesgpvs yhadeeadee
      481 epdeedgepc vsalqmmgsn dygcdgdedd gy
//
LOCUS       XP_054233919             503 aa            linear   PRI 20-MAR-2023
DEFINITION  myocyte-specific enhancer factor 2A isoform X4 [Homo sapiens].
ACCESSION   XP_054233919
VERSION     XP_054233919.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377944.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..503
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..503
                     /product="myocyte-specific enhancer factor 2A isoform X4"
                     /calculated_mol_wt=54137
     CDS             1..503
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /coded_by="XM_054377944.1:451..1962"
                     /db_xref="GeneID:4205"
                     /db_xref="HGNC:HGNC:6993"
                     /db_xref="MIM:600660"
ORIGIN      
        1 mgrkkiqitr imdernrqvt ftkrkfglmk kayelsvlcd ceialiifns snklfqyast
       61 dmdkvllkyt eynephesrt nsdivealnk kehrgcdspd pdtsyvltph teekykkine
      121 efdnmmrnhk iavstkpglp pqnfsmsvtv pvtspnalsy tnpgsslvsp slaasstltd
      181 ssmlsppqtt lhrnvspgap qrppstgnag gmlsttdltv pngagsspvg ngfvnsrasp
      241 nligatgans lgkvmptksp pppgggnlgm nsrkpdlrvv ippsskgmmp plntqrisss
      301 qatqplatpv vsvttpslpp qglvysampt ayntdyslts adlsalqgfn spgmlslgqv
      361 sawqqhhlgq aalsslvagg qlsqgsnlsi ntnqnisiks epispprdrm tpsgfqqqqq
      421 qqqqqqpppp pqpqpqppqp qprqemgrsp vdslssssss ydgsdredpr gdfhspivlg
      481 rppntedres psvkrmrmda wvt
//
LOCUS       XP_054235260            1366 aa            linear   PRI 20-MAR-2023
DEFINITION  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate
            kinase 1 isoform X9 [Homo sapiens].
ACCESSION   XP_054235260
VERSION     XP_054235260.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379285.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1366
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1366
                     /product="inositol hexakisphosphate and
                     diphosphoinositol-pentakisphosphate kinase 1 isoform X9"
                     /calculated_mol_wt=152132
     CDS             1..1366
                     /gene="PPIP5K1"
                     /gene_synonym="HISPPD2A; hsVIP1; IP6K; IPS1; VIP1"
                     /coded_by="XM_054379285.1:205..4305"
                     /db_xref="GeneID:9677"
                     /db_xref="HGNC:HGNC:29023"
                     /db_xref="MIM:610979"
ORIGIN      
        1 mwsltasege sttahfflga gdeglgtrgi gmrpeesdse lledeedevp pepqiivgic
       61 amtkkskskp mtqilerlcr fdyltvvilg edvilnepve nwpschclis fhskgfpldk
      121 avaysklrnp flindlamqy yiqdrrevyr ilqeegidlp ryavlnrdpa rpeecnlieg
      181 edqvevngav fpkpfvekpv saedhnvyiy ypssagggsq rlfrkigsrs svyspessvr
      241 ktgsyiyeef mptdgtdvkv ytvgpdyaha earkspaldg kverdsegke irypvmltam
      301 eklvarkvcv afkqtvcgfd llranghsfv cdvngfsfvk nsmkyyddca kilgntimre
      361 lapqfqipws ipteaedipi vpttsgtmme lrcviaiirh gdrtpkqkmk mevkhprffa
      421 lfekhggykt gklklkrpeq lqevlditrl llaelekepg geieektgkl eqlksvlemy
      481 ghfsginrkv qltyyphgvk asnegqdpqr etlapslllv lkwggeltpa grvqaeelgr
      541 afrcmypggq gdyagfpgcg llrlhstfrh dlkiyasdeg rvqmtaaafa kgllalegel
      601 tpilvqmvks anmnglldsd gdslsscqhr vkarlhhilq qdapfgpedy dqlaptrsts
      661 llnsmtiiqn pvkvcdqvfa lienlthqir ermqdprsvd lqlyhsetle lmlqrwskle
      721 rdfrqksgry diskipdiyd cvkydvqhng slglqgtael lrlskaladv vipqeygisr
      781 eekleiavgf clpllrkill dlqrthedes vnklhplysr gvlspgrhvr trlyftsesh
      841 vhsllsvfry gglldetqda qwqraldyls aiselnymtq ivimlyednt qdplseerfh
      901 velhfspgvk gveeegsapa gcgfrpasse neemktnqgs menlcpgkas depdralqts
      961 pqppegpglp rrsplirnrk agsmevlset sssrpggyrl fsssrpptem kqsglgfegc
     1021 smvptiyple tlhnalslrq vseflsrvcq rhtdaqaqas aalfdsmhss qasdnpfspp
     1081 rtlhspplql qqrsekppwy ssgpsstvss agpsspttvd gnsqfgfsdq pslnshvaee
     1141 hqglgllqet pgsgaqelsi egeqelfepn qspqvppmet sqpyeevsqp cqevpdisqp
     1201 cqdisealsq pcqkvpdisq qcqenhdngn htcqevphis qpcqkssqlc qkvseevcql
     1261 clenseevsq pcqgvsvevg klvhkfhvgv gslvqetlve vgspaeeipe eviqpyqefs
     1321 vevgrlaqet sainllsqgi peidkpsqef peeidlqaqe vpeein
//
LOCUS       XP_054169582             186 aa            linear   PRI 20-MAR-2023
DEFINITION  brain-specific serine protease 4 isoform X4 [Homo sapiens].
ACCESSION   XP_054169582
VERSION     XP_054169582.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313607.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..186
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..186
                     /product="brain-specific serine protease 4 isoform X4"
                     /calculated_mol_wt=19078
     CDS             1..186
                     /gene="PRSS22"
                     /gene_synonym="BSSP-4; hBSSP-4; SP001LA"
                     /coded_by="XM_054313607.1:95..655"
                     /db_xref="GeneID:64063"
                     /db_xref="HGNC:HGNC:14368"
                     /db_xref="MIM:609343"
ORIGIN      
        1 mkqktqqvrs aprspvtvgv aiacslsppc spissssaac lwgstvlccs crrrsgegts
       61 gssvqsrgaq vcasleepvl vpgrqagrea aggqghscaa rawpgprkcp agrgpgverl
      121 eslpghwrar gssppailna aripvppacg kpqqlnrvvg gedstdsewp wivsiqkngt
      181 hhcaat
//
LOCUS       XP_054171913             146 aa            linear   PRI 20-MAR-2023
DEFINITION  peptidyl-tRNA hydrolase ICT1, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_054171913
VERSION     XP_054171913.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315938.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..146
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..146
                     /product="peptidyl-tRNA hydrolase ICT1, mitochondrial
                     isoform X1"
                     /calculated_mol_wt=16707
     CDS             1..146
                     /gene="MRPL58"
                     /gene_synonym="DS-1; DS1; ICT1; MRP-L58"
                     /coded_by="XM_054315938.1:188..628"
                     /db_xref="GeneID:3396"
                     /db_xref="HGNC:HGNC:5359"
                     /db_xref="MIM:603000"
ORIGIN      
        1 mengakqads dipldrltis ycrssgpggq nvnkvnskae vrfhlataew iaepvrqkia
       61 ithknkinrl geliltsess ryqfrnladc lqkirdmite asqtpkeptk edvklhriri
      121 enmnrerlrq krihsavkts rrvdmd
//
LOCUS       XP_054174234             539 aa            linear   PRI 20-MAR-2023
DEFINITION  dystrobrevin alpha isoform X17 [Homo sapiens].
ACCESSION   XP_054174234
VERSION     XP_054174234.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318259.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..539
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..539
                     /product="dystrobrevin alpha isoform X17"
                     /calculated_mol_wt=61496
     CDS             1..539
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
                     /coded_by="XM_054318259.1:150..1769"
                     /db_xref="GeneID:1837"
                     /db_xref="HGNC:HGNC:3057"
                     /db_xref="MIM:601239"
ORIGIN      
        1 miedsgkrgn tmaerrqlfa emraqdldri rlstyrtack lrfvqkkcnl hlvdiwnvie
       61 alrenalnnl dpntelnvsr leavlstify qlnkrmptth qihveqsisl llnfllaafd
      121 peghgkisvf avkmalatlc ggkimdklry ifsmisdssg vmvygrydqf lrevlklpta
      181 vfegpsfgyt eqsarscfsq qkkvtlngfl dtlmsdpppq clvwlpllhr lanvenvfhp
      241 vecsychses mmgfryrcqq chnyqlcqdc fwrghaggsh snqhqmkeyt swkspakklt
      301 nalskslsca ssreplhpmf pdqpekplnl ahivpprpvt smndtlfshs vpssgspfit
      361 rrlpegisas spvaeehsli klyvnqldhg armlessnrl deehrliary aarlaaesss
      421 sppqqrsapd isftidankq qrqliaelen knreilqeiq rlrleheqas qptpekaqqn
      481 ptllaelrll rqrkdeleqr msalqesrre lmvqleglmk llkeeelkqg vsyvpycrs
//
LOCUS       XP_054176669            1564 aa            linear   PRI 20-MAR-2023
DEFINITION  NACHT domain- and WD repeat-containing protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054176669
VERSION     XP_054176669.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320694.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1564
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1564
                     /product="NACHT domain- and WD repeat-containing protein 1
                     isoform X1"
                     /calculated_mol_wt=174451
     CDS             1..1564
                     /gene="NWD1"
                     /coded_by="XM_054320694.1:775..5469"
                     /db_xref="GeneID:284434"
                     /db_xref="HGNC:HGNC:27619"
                     /db_xref="MIM:616250"
ORIGIN      
        1 mqrgkpcral ptlkcqtfcq rhglmfevvd lrwgirniea tdhlttelcl eevdrcwkts
       61 igpafvalig dqygpclips ridekewevl rdhltarpsd lelvaryfqr denafpptyv
      121 lqapgtgeac epeeatltsv lrsgaqearr lglitqeqwq hyhrsviewe iersllssed
      181 reqgatvflr eiqdlhkhil edcalrmvdr ladgcldtda qnllsslksh itdmhpgvlk
      241 thrlpwsrdl vnpknkthac ylkelgeqfv vranhqvltr lreldtagqe lawlyqeirh
      301 hlwqsseviq tfcgrqella rlgqqlrhdd skqhtplvlf gppgigktal mcklaeqmpr
      361 llghktvtvl rllgtsqmss dargllksic fqvclayglp lppaqvldah trvvqffhtl
      421 lhtvscrnfe slvllldamd dldsvrharr vpwlplncpp rvhlilsacs galgvldtlq
      481 rvlldpeayw evkplsgnqg qqmiqlllaa arrtlspvht dllwaslpec gnpgrlrlaf
      541 eearkwasft vpvplattae eathqlctrl eqthgqllva hvlgyivssr hglseaelkd
      601 vlslddevlq dvyrdwtpps kellrfppll wvrlrrdlgy ylarrpvdgf tllaiahrql
      661 vevvreryls gserakrhgv ladffsgtws qgtkklitlp lvgkplnldr kvapqplwfs
      721 htvanlrklk elpyhllhsg rleelkqevl gsmswiscrg isggiedlld dfdlcaphld
      781 spevglvrea lqlcrpavel rgmersllyt ellarlhffa tshpalvgql cqqaqswfql
      841 cahpvlvplg gflqppggpl ratlsgchkg itamawgvee kllvigtqdg imavwdmeeq
      901 hvihmltght gevrcvkifa kgtlaisask dytlhlwnll sgqekftiwd ggsknpaepq
      961 iwnlhvdeah kvvysasgsk inawnletae pvfhilgdas dpwmcmavla sqatlltvsr
     1021 dgvvslwssa tgklqgkqhm ssikeetptc avsvqkqgkl vtgfsngsis lvsskgdrll
     1081 eklpdavrfl vvsedeslla agfgrsvrif ladsrgfrrf mamdlehedm vetavfgten
     1141 nliitgslda liqvwslseq gtlldilegv gapvsllarg galvasaspq sssfkvwdls
     1201 dahrsrvpap fldrtgltav shngsyvyfp kigdknkvti wdlaegeeqd sldtsseirc
     1261 levaeqrkll ftglvsgvvl vfplnsrqdv icipppeark aincmslskc edrlaiaydn
     1321 ivlvlditsg dpcpvidgpr ytfytqlpet lssvailtdy rvvysmtngd lflyecatsk
     1381 afplethrsr vacvevshke qlvvsgseda llclwdlqar kwkfemsyts sycrgvqcac
     1441 fskddkyvyv glkdrsilvw svldgtlltv qfvhavvnri ipttsgfiap trhgyliren
     1501 fqclsakasp qdplknfkka mwmvksrqre elvaaagapq dlesesaqgn etksnkcsqv
     1561 cliv
//
LOCUS       XP_054179898             577 aa            linear   PRI 20-MAR-2023
DEFINITION  double-stranded RNA-binding protein Staufen homolog 1 isoform X2
            [Homo sapiens].
ACCESSION   XP_054179898
VERSION     XP_054179898.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323923.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..577
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..577
                     /product="double-stranded RNA-binding protein Staufen
                     homolog 1 isoform X2"
                     /calculated_mol_wt=63051
     CDS             1..577
                     /gene="STAU1"
                     /gene_synonym="PPP1R150; STAU"
                     /coded_by="XM_054323923.1:260..1993"
                     /db_xref="GeneID:6780"
                     /db_xref="HGNC:HGNC:11370"
                     /db_xref="MIM:601716"
ORIGIN      
        1 msqvqvqvqn psaalsgsqi lnknqsllsq plmsipstts slpsenagrp iqnsalpsas
       61 itstsaaaes itptvelnal cmklgkkpmy kpvdpysrmq stynynmrgg ayppryfypf
      121 pvppllyqve lsvggqqfng kgktrqaakh daaakalril qneplperle vngreseeen
      181 lnkseisqvf eialkrnlpv nfevaresgp phmknfvtkv svgefvgege gkskkiskkn
      241 aaiavleelk klpplpaver vkprikkktk pivkpqtspe ygqginpisr laqiqqakke
      301 kepeytllte rglprrrefv mqvkvgnhta egtgtnkkva krnaaenmle ilgfkvpqaq
      361 ptkpalksee ktpikkpgdg rkvtffepgs gdengtsnke defrmpylsh qqlpagilpm
      421 vpevaqavgv sqghhtkdft raapnpakat vtamiarell yggtsptaet ilknnissgh
      481 vphgpltrps eqldylsrvq gfqveykdfp knnknefvsl incssqppli shgigkdves
      541 chdmaalnil kllseldqqs temprtgngp msvcgrc
//
LOCUS       XP_054180870             480 aa            linear   PRI 20-MAR-2023
DEFINITION  runt-related transcription factor 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054180870
VERSION     XP_054180870.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324895.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..480
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..480
                     /product="runt-related transcription factor 1 isoform X1"
                     /calculated_mol_wt=51687
     CDS             1..480
                     /gene="RUNX1"
                     /gene_synonym="AML1; AML1-EVI-1; AMLCR1; CBF2alpha; CBFA2;
                     EVI-1; PEBP2aB; PEBP2alpha"
                     /coded_by="XM_054324895.1:313..1755"
                     /db_xref="GeneID:861"
                     /db_xref="HGNC:HGNC:10471"
                     /db_xref="MIM:151385"
ORIGIN      
        1 masdsifesf psypqcfmre cilgmnpsrd vhdastsrrf tppstalspg kmsealplga
       61 pdagaalagk lrsgdrsmve vladhpgelv rtdspnflcs vlpthwrcnk tlpiafkvva
      121 lgdvpdgtlv tvmagndeny saelrnataa mknqvarfnd lrfvgrsgrg ksftltitvf
      181 tnppqvatyh raikitvdgp reprrhrqkl ddqtkpgsls fserlseleq lrrtamrvsp
      241 hhpaptpnpr aslnhstafn pqpqsqmqdt rqiqpsppws ydqsyqylgs iaspsvhpat
      301 pispgrasgm ttlsaelssr lstapdltaf sdprqfpalp sisdprmhyp gaftysptpv
      361 tsgigigmsa mgsatryhty lpppypgssq aqggpfqass psyhlyygas agsyqfsmvg
      421 gerspprilp pctnastgsa llnpslpnqs dvveaegshs nsptnmapsa rleeavwrpy
//
LOCUS       XP_054201618            3939 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein axonemal heavy chain 12 isoform X2 [Homo sapiens].
ACCESSION   XP_054201618
VERSION     XP_054201618.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345643.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3939
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3939
                     /product="dynein axonemal heavy chain 12 isoform X2"
                     /calculated_mol_wt=451694
     CDS             1..3939
                     /gene="DNAH12"
                     /gene_synonym="DHC3; DLP12; DLP3; DNAH12L; DNAH7L;
                     DNAHC12; DNAHC3; DNHD2; HDHC3; HL-19; HL19"
                     /coded_by="XM_054345643.1:678..12497"
                     /db_xref="GeneID:201625"
                     /db_xref="HGNC:HGNC:2943"
                     /db_xref="MIM:603340"
ORIGIN      
        1 msdankaaia aekealnlkl ppivhlpeni gadtptqskl lkyrrskeqq qkinqlvidg
       61 akrnldrtlg krtpllpppd ypqtmtsemk kkgfnyiymk qcvessplvp iqqewldhml
      121 rlipeslkeg kereellesl inevssdfen smkrylvqsv lvkppvksle deggplpesp
      181 vgldysnpwh ssyvqarnqi fsnlhiihpt mkmlldlgyt tfadtvlldf tgirakgpid
      241 ceslktdlsi qtrnaeekim ntwypkvinl ftkkealegv kpekldafys cvstlmsnql
      301 kdllrrtveg fvklfdpkdq qrlpifkiel tfdddkmefy ptfqdlednv lslveriaea
      361 lqnvqtipsw lsgtstpvnl dtelpehvlh wavdtlkaav hrnlegarkh yetyvekynw
      421 lldgtaveni etfqtedhtf deytefiekf lslaseimll pqwihytmvr ldcedlktgl
      481 tnkakafani llndiaskyr kenecicsef eaikehalkv petteemmdl isyvekartv
      541 gieelilriq eskrqmsyfl dvflfpqedl alnatvlmwp rkinpifden delienakhk
      601 kenelmakre klileiekes rrmeeftefa elermqqyvt dvrqlqkriq eseeavqfin
      661 keeelfkwel tkypeldklk vniepyqkff nfvlkwqrse krwmdggfld lngesmeadv
      721 eefsreifkt lkffqtklkk elqekrkaar krsleeekie eepkdnatit mcstvmeqik
      781 afkeyiptvs ilcnpgmrar hwkqiseivg ydltpdsgtt lrkvlklnlt pyleqfevis
      841 agaskefsle kamntmigtw ediafhisly rdtgvcilss vdeiqaildd qiiktqtmrg
      901 spfikpfehe ikawedrlir iqetidewlk vqaqwlylep ifcsedimqq mpeegrqfqt
      961 vdrhwrdimk fcakdpkvla atsltgllek lqncnellek imkglnayle kkrlffprff
     1021 flsndemlei lsetkdplrv qphlkkcfeg iakleflpnl dikamysseg ervelialis
     1081 tsaargavek wliqvedlml rsvhdviaaa rlaypesarr dwvrewpgqv vlcisqmfwt
     1141 setqevisgg teglkkyyke lqnqlneive lvrgklskqt rttlgalvti dvhardvvmd
     1201 mikmgvshdt dflwlaqlry ywenenarvr iincnvkyay eylgnsprlv itpltdrcyr
     1261 tligafylnl ggapegpagt gktettkdla kalavqcvvf ncsdgldyla mgkffkglas
     1321 sgawacfdef nrielevlsv vaqqilciqr aiqqklvvfv fegtelklnp ncfvaitmnp
     1381 gyagrselpd nlkvlfrtva mmvpnyalia eislysygfl narplsvkiv mtyrlcseql
     1441 ssqfhydygm ravkavlvaa gnlklkypne nedilllrsi kdvnepkfls hdiplfngit
     1501 sdlfpgiklp eadyheflec aheacnvhnl qpvkffleki iqtyemmivr hgfmlvgepf
     1561 aaktkvlhvl adtltlmneh gygeeekviy rtvnpksitm gqlfgqfdpv shewtdgiva
     1621 ntfrefalse tpdrkwvvfd gpidtlwies mntvlddnkk lclmsgeiiq mspqmslife
     1681 tmdlsqaspa tvsrcgmiyl epsqlgwepl vsswlnslkg plcepeyqal lrglfawlip
     1741 pslnqrkkkc keliptsnsn vvvsltrlfe vllcnvvend ptskhirvwi macfifsliw
     1801 siggscdtdg rrvfdtfirl iilgkddenp vpdsvgkwec pfdekglvyd ymyelknkgr
     1861 wvhwnelikn tnlgdkqiki qdiivptmdt irytflmdls ityakpllfv gptgtgksvy
     1921 vkdklmnhle kdqyfpfyin lsartsanqv qniimarldk rrkgvfgppm gkkciifidd
     1981 mnmpalekyg aqppiellrq ffdcghwydl kdtskitlvd ieliaamgpp gggrnpvtpr
     2041 cirhfnicsi nsfsdetmvr ifssivafyl rthefppeyf vignqivngt meiykqsven
     2101 llptptkshy tfnlrdfsrv irgcllierd avankhtmir lfvhevlrvf ydrlindddr
     2161 rwlfqltktv ikdhfkesfh sifshlrkqn apvteedlrn lmfgdymnpd legddrvyie
     2221 ipnihhfsdv vdqcldeynq thktrmnlvi fryvlehlsr icrvlkqsgg nallvglggs
     2281 grqsltrlat smakmhifqp eisksygmne wredmkgllr nvgmkgqktv flitdtqike
     2341 eafledidsv lntgevpnif aadekqevme gvrpvaqagn khdelsplal faffvnrckd
     2401 nlhvvvafsp igdafrnrlr qfpslincct idwfqswped alervavkfl etlelteveq
     2461 qeivpickhf htsimdlser flhelgrhny vtatsyleli gsfrqlltqk rqavmeakqr
     2521 ymngldklaf aesqvgemqm elvelqpkle eakienanmm qvieiesvqv eakrqfvkld
     2581 eeiasgkaee aqalkneces dlaeaipale aalsaldtlk paditivksm knppsgvklv
     2641 maavcvmkdi kpekisdpsg tggkildywg pskkllgdmn flrdlkeydk dnipvakass
     2701 aaeglckwim amevydrvak vvapkkarls eaqkslaetm ellnqkrael aevehhlenl
     2761 qmtflektee kaaledqvel cakklerasq ligglggeks rwaqaaddlq ityenltgdv
     2821 lvsagviayl gaftsgfrqt ctkdwsmlck kkkipcseef llsktlgdpv kirawniagl
     2881 ptdtfsidng vivnncrrwp lmidpqgqan kwiknseken qlsviklsds dymrtlenci
     2941 qfgtplllen vgeeldpsle plllrqtfkq ggidcirlge viieysfdfk fyittklrnp
     3001 hympelatkv sllnfmitpe gledqllgiv vakerpelee ernalilqsa ankkqlkdie
     3061 kkiletlsss egniledesa ikvldsakmm sneitkkqqi aektelkiae sregyrpiak
     3121 hssvlffsia dlanidpmyq ysltwfvnly insihdsnks kilekrlryl ndhftynlyc
     3181 nicrslfekd kllfsfllca nlllarkeie yqelmflltg gvslksaekn pdptwlqdks
     3241 weeicrasef pafrglrqhf cehiyewrei ydskephnak fpapmdknln elqkiiilrc
     3301 lrpdkitpai tnyvtdklgk kfvepppfdl tksyldsnct iplifvlspg adpmasllkf
     3361 andksmsgnk fqaislgqgq gpiaakmika aieegtwvcl qnchlavswm pmlekicedf
     3421 tsetcnssfr lwltsypssk fpvtilqngv kmtnepptgl rlnllqsylt dpvsdpeffk
     3481 gcrgkelawe kllfgvcffh alvqerkkfg plgwnipygf nesdlrisir qlqlfineyd
     3541 tipfeaisyl tgecnyggrv tddwdrrlll tmladfynly ivenphykfs psgnyfappk
     3601 gtyedyiefi kklpftqhpe ifglhenvdi skdlqqtktl fesllltqgg skqtgasgst
     3661 dqilleitkd ilnklpsdfd iemalrkypv ryeesmntvl vqemerfnnl iitirntlrd
     3721 lekaikgvvv mdsalealss sllvgkvpei wakrsypslk plgsyitdfl arlnflqdwy
     3781 nsgkpcvfwl sgffftqafl tgamqnyark yttpidllgy efevipsdts dtspedgvyi
     3841 hglyldgarw dresgllaeq ypkllfdlmp iiwikptqks riiksdayvc plyktserkg
     3901 tlsttghstn fviamllktd qptrhwikrg vallcqldd
//
LOCUS       XP_054204473             655 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase DZIP3 isoform X6 [Homo sapiens].
ACCESSION   XP_054204473
VERSION     XP_054204473.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348498.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..655
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..655
                     /product="E3 ubiquitin-protein ligase DZIP3 isoform X6"
                     /calculated_mol_wt=75520
     CDS             1..655
                     /gene="DZIP3"
                     /gene_synonym="hRUL138; PPP1R66; UURF2"
                     /coded_by="XM_054348498.1:191..2158"
                     /db_xref="GeneID:9666"
                     /db_xref="HGNC:HGNC:30938"
                     /db_xref="MIM:608672"
ORIGIN      
        1 mdslpdeffv rhpavedqrk eetenkleks sgqlnkqend iptdlvpvnl llevkkllna
       61 intlpkgvvp hikkflqedf sfqtmqreva ansqngeeiv paltlrflit qleaalrniq
      121 agnytahqin igyyltllfl ygvaltergk kedyteaenk flvmkmmiqe neicenfmsl
      181 vyfgrgllrc aqkrynggll efhkslqeig dkndhwfdid ptededlptt fkdllnnfik
      241 ttesnimkqt icsyldcers ceadilknts ykgffqlmcs ksccvyfhki cwkkfknlky
      301 pgendqsfsg kkclkegctg dmvrmlqcdv pgivkilfev vrkdeyitie nlgasyrkli
      361 slkitdtdir pkislkfntk dempifkldy nyfyhllhii iisgtdivrq ifdeampppl
      421 lkkellihkn vlesyynhlw tnhplggswh llyppnkelp qskqfdlcll lalikhlnvf
      481 papkkgwnme ppssdisksa dilrlckyrd illseilmng ltesqfnsiw kkvsdillrl
      541 gmmqedidkv kenpienisl dyhqlsvylg ipvpeiiqrm lscyqqgial qsitgsqrie
      601 ieelqneeee lspplmeyni nvkshpeiqf aeinkdgtsi psessteslk dlqev
//
LOCUS       XP_054205014             306 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM53A isoform X5 [Homo sapiens].
ACCESSION   XP_054205014
VERSION     XP_054205014.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349039.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..306
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..306
                     /product="protein FAM53A isoform X5"
                     /calculated_mol_wt=32319
     CDS             1..306
                     /gene="FAM53A"
                     /gene_synonym="DNTNP"
                     /coded_by="XM_054349039.1:246..1166"
                     /db_xref="GeneID:152877"
                     /db_xref="HGNC:HGNC:31860"
                     /db_xref="MIM:617229"
ORIGIN      
        1 mvtliteklq sqslddltck aeagplqysa etlnksgrlf plelndqspw kvfsggppvr
       61 sqaatgpdfs flpglsaaah tmglqwqpqs prpgaglgaa stvdpsestg sstapptkrh
      121 crslsepeel vrcrspwrpg sskvwtpvsk rrcdsggsat rqgspgavlp rsavwstgpt
      181 spatprpssa sggfvdsseg sagsgplwcs aesclpstrr rpslsqerla gagtplpwas
      241 ssptstpalg grrgllrcrs qpcvlsgkrs rrkrrreeda rwtrpsldfl kmtqvasrtv
      301 spsmlp
//
LOCUS       XP_054207969             462 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 125 isoform X11 [Homo
            sapiens].
ACCESSION   XP_054207969
VERSION     XP_054207969.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351994.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..462
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..462
                     /product="coiled-coil domain-containing protein 125
                     isoform X11"
                     /calculated_mol_wt=53222
     CDS             1..462
                     /gene="CCDC125"
                     /gene_synonym="KENAE"
                     /coded_by="XM_054351994.1:78..1466"
                     /db_xref="GeneID:202243"
                     /db_xref="HGNC:HGNC:28924"
                     /db_xref="MIM:613781"
ORIGIN      
        1 mskvarssse sdvqlwetee ddmtegdlgy glgrkpggiy eiefshrsrk rsdgknfspp
       61 pfprkgeern easfqyskhk sqqdtfpqvs risnyrrqss tdsnselsne elrqclnetl
      121 eevemlktel easqrqlrgk eealkilqsm ailgkatsht qavlqktmeq nrslekeina
      181 lqweiefdhn rfknieeswi qkydrlncen avlkenlkvk teeikmlksd navlnqryle
      241 alamldikqq kmaqenmccd ksgfaeasgl elavlgaclc hgpggnpcsc armaastrkl
      301 llqlkqeksk eeayvmadaf riafeqqlmr kndqalqltq mdkmhkkatk wmnwkhlked
      361 gfpsprskkt fgqrllgmlp sensskrmed qdspqevlkm lidllndkee alahqrkvsy
      421 mlaraledkd tasnenkekn pikenfpfnn pwrwrtdiln gy
//
LOCUS       XP_054210988             534 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein kinase Fyn isoform X2 [Homo sapiens].
ACCESSION   XP_054210988
VERSION     XP_054210988.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355013.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..534
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..534
                     /product="tyrosine-protein kinase Fyn isoform X2"
                     /calculated_mol_wt=60010
     CDS             1..534
                     /gene="FYN"
                     /gene_synonym="p59-FYN; SLK; SYN"
                     /coded_by="XM_054355013.1:1831..3435"
                     /db_xref="GeneID:2534"
                     /db_xref="HGNC:HGNC:4037"
                     /db_xref="MIM:137025"
ORIGIN      
        1 mgcvqckdke atklteerdg slnqssgyry gtdptpqhyp sfgvtsipny nnfhaaggqg
       61 ltvfggvnss shtgtlrtrg gtgvtlfval ydyeartedd lsfhkgekfq ilnssegdww
      121 earslttget gyipsnyvap vdsiqaeewy fgklgrkdae rqllsfgnpr gtflireset
      181 tkgayslsir dwddmkgdhv khykirkldn ggyyittraq fetlqqlvqh ysekadglcf
      241 nltviassct pqtsglakda wevarrslcl ekklgqgcfa evwlgtwngn tkvaiktlkp
      301 gtmspesfle eaqimkklkh dklvqlyavv seepiyivte ymnkgslldf lkdgegralk
      361 lpnlvdmaaq vaagmayier mnyihrdlrs anilvgngli ckiadfglar liedneytar
      421 qgakfpikwt apeaalygrf tiksdvwsfg illtelvtkg rvpypgmnnr evleqvergy
      481 rmpcpqdcpi slhelmihcw kkdpeerptf eylqsfledy ftatepqyqp genl
//
LOCUS       XP_054215783             317 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-1A adrenergic receptor isoform X3 [Homo sapiens].
ACCESSION   XP_054215783
VERSION     XP_054215783.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359808.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..317
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..317
                     /product="alpha-1A adrenergic receptor isoform X3"
                     /calculated_mol_wt=34759
     CDS             1..317
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /coded_by="XM_054359808.1:1011..1964"
                     /db_xref="GeneID:148"
                     /db_xref="HGNC:HGNC:277"
                     /db_xref="MIM:104221"
ORIGIN      
        1 mvflsgnasd ssnctqppap vniskaillg vilgglilfg vlgnilvils vachrhlhsv
       61 thyyivnlav adllltstvl pfsaifevlg ywafgrvfcn iwaavdvlcc tasimglcii
      121 sidryigvsy plryptivtq rrglmallcv walslvisig plfgwrqpap edeticqine
      181 epgyvlfsal gsfylplaii lvmycrvyvv akresrglks glktdksdse qvtlrihrkn
      241 apaggsgmas aktkthfsvr llkfsrekka aktlgivvgc fvlcwlpffl vmpigkkmkk
      301 lkvpwpeegh rrkltls
//
LOCUS       XP_054219479             569 aa            linear   PRI 20-MAR-2023
DEFINITION  N-alpha-acetyltransferase 35, NatC auxiliary subunit isoform X2
            [Homo sapiens].
ACCESSION   XP_054219479
VERSION     XP_054219479.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363504.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..569
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..569
                     /product="N-alpha-acetyltransferase 35, NatC auxiliary
                     subunit isoform X2"
                     /calculated_mol_wt=65929
     CDS             1..569
                     /gene="NAA35"
                     /gene_synonym="bA379P1.1; EGAP; MAK10; MAK10P"
                     /coded_by="XM_054363504.1:32..1741"
                     /db_xref="GeneID:60560"
                     /db_xref="HGNC:HGNC:24340"
                     /db_xref="MIM:619438"
ORIGIN      
        1 mniilkmkmf nvgrnaedfq smtygfkman svtdlrvtgm lkdveddmqr rvkstrsrqg
       61 eerdpevele hqqclavfsr vkftrvlltv liaftkkets avaeaqklmv qaadllsaih
      121 nslhhgiqaq ndttkgdhpi mmgfeplvnq rllpptfpry akiikreemv nyfarlidri
      181 ktvcevvnlt nlhcildffc efseqspcvl srsllqttfl vdnkkvfgth lmqdmvkdal
      241 rsfvsppvls pkcylynnhq akdcidsfvt hcvrpfcsli qihghnrarq rdklghilee
      301 fatlqdeaek vdaalhtmll kqepqrqhla clgtwvlyhn lrimiqylls gfelelysmh
      361 eyyyiywyls eflyawlmst lsradgsqma eerimeeqqk grsskktkkk kkvrplsrei
      421 tmsqayqnmc agmfktmvaf dmdgkvrkpk feldseqvry ehrfapfnsv mtpppvhylq
      481 fkemsdlnky spppqspely vaaskhfqqa kmilenipnp dhevnrilkv akpnfvvmkl
      541 lagghkkesk vppefdfsah kyfpvvklv
//
LOCUS       XP_054182786             688 aa            linear   PRI 20-MAR-2023
DEFINITION  MAP7 domain-containing protein 2 isoform X14 [Homo sapiens].
ACCESSION   XP_054182786
VERSION     XP_054182786.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326811.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..688
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..688
                     /product="MAP7 domain-containing protein 2 isoform X14"
                     /calculated_mol_wt=77469
     CDS             1..688
                     /gene="MAP7D2"
                     /coded_by="XM_054326811.1:113..2179"
                     /db_xref="GeneID:256714"
                     /db_xref="HGNC:HGNC:25899"
ORIGIN      
        1 megflksder qrlakerree rekclaareq qilekqkrar lqyekqmeer wrkleeqrqr
       61 edqkraavee krkqklreee erleammrrs lertqqlelk kkyswgapla igpgghdacd
      121 klststmslp kpteppmnkr lssstvaisy spdrvfhvcp rlaplgplnp sykssptrni
      181 ekkkatstst sgagdvgkea lsggeaslve kvkrgqrtat slpvvnfgsp lrrcefsggi
      241 pkrpsspvis ktatkaypqs pkttkppypg spvkyrlpal sgqdmpkrka ekeksnkere
      301 gtlaqqaagp qgeealekhv vdkhasekha aaaggkaens aalgkptagt tdageaakil
      361 aekrrqarlq keqeeqerle keeqdrlere elkrkaeeer lrleeearkq eeerkrqeee
      421 kkkqegeekr kageeakrka eeelllkekq eqekqekami ekqkeaaetk arevaeqmrl
      481 ereqimlqie qerlerkkri deimkrtrks dvspqvkked pkvgvqpavc vekktklvvp
      541 nkmeinglnt cqevngvdha apetypqdif snglkpaggl ihldaldgks nslddsteev
      601 qsmdvspvsk eelisipefs pvsemipgvs ldqngtgnar alqdlldftg pptfpkrsse
      661 nlslddcnkn liegfnspgq etplntfc
//
LOCUS       XP_054182941            1044 aa            linear   PRI 20-MAR-2023
DEFINITION  NHS-like protein 2 isoform X9 [Homo sapiens].
ACCESSION   XP_054182941
VERSION     XP_054182941.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326966.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1044
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1044
                     /product="NHS-like protein 2 isoform X9"
                     /calculated_mol_wt=112721
     CDS             1..1044
                     /gene="NHSL2"
                     /coded_by="XM_054326966.1:281..3415"
                     /db_xref="GeneID:340527"
                     /db_xref="HGNC:HGNC:33737"
                     /db_xref="MIM:301093"
ORIGIN      
        1 mpfyrrtvvp qrlcprnppq qlaelrdvsh laalsllrql adlcghslal ledleghlla
       61 lgrrtdslyr rtvrlrrrlp crllgpeede eelgashwsn ltrsqrarep vdaihtghsn
      121 spagsvahst tsdirpshsv pegvhgrvav gqdarfpslt spvlrtpsse pdephqarsg
      181 pnppgmesmg mvysvpsscn gptestfsts wkgdaftymt psatsqsnqv nengknpscg
      241 nswvslnkvp plvpkeaatl lvardnpagc sgsagyperl iqqrhmperp skiglltsgt
      301 srletgpgga srfrerslsv ptdsgttdvd ydeeqkanea calpfastss egsnsadnia
      361 slsaqqeaqh rrqrsksisl rkakkkpspp trsvslvkde pgllpeggsa lpkdqrpksl
      421 clslehqghh sshpdaqghp aipnhkdpes tqfshhwylt dwksgdtyqs lsssstatgt
      481 tviectqvqg sseslaspst srattpsqls ieveareiss pgrppglmsp ssgyssqset
      541 ptptvsmslt lghlpppsss vrvrpvvper ksslpptspm ekfpksrlsf dlpltsspnl
      601 dlsgmsisir sktkvsrhhs etnfgvklaq ktnpnqpimp mvtqsdlrsv rlrsvsksep
      661 eddiespeya eepraeevft lperktkppv aekppvarrp pslvhkppsv peeyaltspt
      721 lampprssiq harplpqdsy tvvrkpkpss fpdgrspges tapsslvftp fasssdaffs
      781 gtqqppqgsv edegpkvrvl perislqsqe eaekkkgkip ppvpkkpsvl ylpltsptaq
      841 meayvaeprl plspiitlee dtkcpatgdd lqslgqrvts tpqadserea splgssvepg
      901 teekslisdk taewiaeddd dvfvasrtte dlftvihrsk rkllgwkepg eafvggrtss
      961 hspikntaes pisestatag sgssanldag rnddfkallq kkgskatprs rpsaaellkt
     1021 tnplarriia qfskdyettd npst
//
LOCUS       NP_150631                629 aa            linear   PRI 23-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase Midline-1 isoform 2 [Homo sapiens].
ACCESSION   NP_150631
VERSION     NP_150631.1
DBSOURCE    REFSEQ: accession NM_033289.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 629)
  AUTHORS   Kaur A, Gladu EM, Wright KM, Webb JA and Massiah MA.
  TITLE     B-box1 Domain of MID1 Interacts with the Ube2D1 E2 Enzyme
            Differently Than RING E3 Ligases
  JOURNAL   Biochemistry 62 (5), 1012-1025 (2023)
   PUBMED   36820504
  REMARK    GeneRIF: B-box1 Domain of MID1 Interacts with the Ube2D1 E2 Enzyme
            Differently Than RING E3 Ligases.
REFERENCE   2  (residues 1 to 629)
  AUTHORS   Chen X, Wang L, Yu H, Shen Q, Hou Y, Xia YX, Li L, Chang L and Li
            WH.
  TITLE     Irradiated lung cancer cell-derived exosomes modulate macrophage
            polarization by inhibiting MID1 via miR-4655-5p
  JOURNAL   Mol Immunol 155, 58-68 (2023)
   PUBMED   36709645
  REMARK    GeneRIF: Irradiated lung cancer cell-derived exosomes modulate
            macrophage polarization by inhibiting MID1 via miR-4655-5p.
REFERENCE   3  (residues 1 to 629)
  AUTHORS   Rezig IM, Yaduma WG, Gould GW and McInerny CJ.
  TITLE     The role of anillin/Mid1p during medial division and cytokinesis:
            from fission yeast to cancer cells
  JOURNAL   Cell Cycle 22 (6), 633-644 (2023)
   PUBMED   36426865
  REMARK    GeneRIF: The role of anillin/Mid1p during medial division and
            cytokinesis: from fission yeast to cancer cells.
            Review article
REFERENCE   4  (residues 1 to 629)
  AUTHORS   Fang M, Zhang A, Du Y, Lu W, Wang J, Minze LJ, Cox TC, Li XC, Xing
            J and Zhang Z.
  TITLE     TRIM18 is a critical regulator of viral myocarditis and organ
            inflammation
  JOURNAL   J Biomed Sci 29 (1), 55 (2022)
   PUBMED   35909127
  REMARK    GeneRIF: TRIM18 is a critical regulator of viral myocarditis and
            organ inflammation.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 629)
  AUTHORS   Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL,
            Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A and Muenke M.
  TITLE     Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in
            the carboxy-terminal domain
  JOURNAL   Am J Hum Genet 63 (3), 703-710 (1998)
   PUBMED   9718340
  REMARK    Erratum:[Am J Hum Genet 1998 Nov;63(5):1571]
REFERENCE   6  (residues 1 to 629)
  AUTHORS   Perry J, Feather S, Smith A, Palmer S and Ashworth A.
  TITLE     The human FXY gene is located within Xp22.3: implications for
            evolution of the mammalian X chromosome
  JOURNAL   Hum Mol Genet 7 (2), 299-305 (1998)
   PUBMED   9425238
REFERENCE   7  (residues 1 to 629)
  AUTHORS   Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W,
            Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam
            RC, Opitz JM, Muenke M, Ropers HH and Ballabio A.
  TITLE     Opitz G/BBB syndrome, a defect of midline development, is due to
            mutations in a new RING finger gene on Xp22
  JOURNAL   Nat Genet 17 (3), 285-291 (1997)
   PUBMED   9354791
REFERENCE   8  (residues 1 to 629)
  AUTHORS   Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard
            CO, Burton BK, Josephson KD, Laxova R, Aleck KA, Allanson JE,
            Guion-Almeida ML, Martin RA, Leichtman LG, Price RA, Opitz JM and
            Muenke M.
  TITLE     Opitz syndrome is genetically heterogeneous, with one locus on
            Xp22, and a second locus on 22q11.2
  JOURNAL   Nat Genet 11 (4), 459-461 (1995)
   PUBMED   7493033
REFERENCE   9  (residues 1 to 629)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301753
REFERENCE   10 (residues 1 to 629)
  AUTHORS   Meroni,G.
  TITLE     X-Linked Opitz G/BBB Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301502
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC309977.1, AK226104.1 and
            EF217426.1.
            
            Summary: The protein encoded by this gene is a member of the
            tripartite motif (TRIM) family, also known as the 'RING-B
            box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM
            motif includes three zinc-binding domains, a RING, a B-box type 1
            and a B-box type 2, and a coiled-coil region. This protein forms
            homodimers which associate with microtubules in the cytoplasm. The
            protein is likely involved in the formation of multiprotein
            structures acting as anchor points to microtubules. Mutations in
            this gene have been associated with the X-linked form of Opitz
            syndrome, which is characterized by midline abnormalities such as
            cleft lip, laryngeal cleft, heart defects, hypospadias, and
            agenesis of the corpus callosum. This gene was also the first
            example of a gene subject to X inactivation in human while escaping
            it in mouse. Alternative promoter use, alternative splicing and
            alternative polyadenylation result in multiple transcript variants
            that have different tissue specificities. [provided by RefSeq, Dec
            2016].
            
            Transcript Variant: This variant (5) has an alternate splice site
            in the CDS, as compared to variant 1. The resulting isoform (2)
            lacks an internal segment in the N-terminal region, as compared to
            the isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.44620.1,
                                           SRR1803611.138190.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..629
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     Protein         1..629
                     /product="E3 ubiquitin-protein ligase Midline-1 isoform 2"
                     /EC_number="2.3.2.27"
                     /note="putative transcription factor XPRF; tripartite
                     motif protein TRIM18; zinc finger on X and Y, mouse,
                     homolog of; tripartite motif-containing protein 18; RING
                     finger protein 59; midline 1 RING finger protein; RING
                     finger protein Midline-1; E3 ubiquitin-protein ligase
                     Midline-1; Opitz/BBB syndrome; RING-type E3 ubiquitin
                     transferase Midline-1"
                     /calculated_mol_wt=70732
     Region          3..74
                     /region_name="RING-HC_MID1"
                     /note="RING finger, HC subclass, found in midline-1 (MID1)
                     and similar proteins; cd16753"
                     /db_xref="CDD:438411"
     Region          115..164
                     /region_name="Bbox1_MID1_C-I"
                     /note="B-box-type 1 zinc finger found in midline-1 (MID1)
                     and similar proteins; cd19836"
                     /db_xref="CDD:380894"
     Region          182..306
                     /region_name="BBC"
                     /note="B-Box C-terminal domain; smart00502"
                     /db_xref="CDD:128778"
     Region          285..336
                     /region_name="COS"
                     /note="TRIM C-terminal subgroup One Signature domain;
                     pfam18568"
                     /db_xref="CDD:436584"
     Region          343..443
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Region          447..623
                     /region_name="SPRY_PRY_TRIM18"
                     /note="PRY/SPRY domain of TRIM18/MID1, also known as FXY
                     or RNF59; cd12892"
                     /db_xref="CDD:240472"
     CDS             1..629
                     /gene="MID1"
                     /gene_synonym="BBBG1; FXY; GBBB; GBBB1; MIDIN; OGS1; OS;
                     OSX; RNF59; TRIM18; XPRF; ZNFXY"
                     /coded_by="NM_033289.2:353..2242"
                     /note="isoform 2 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS94549.1"
                     /db_xref="GeneID:4281"
                     /db_xref="HGNC:HGNC:7095"
                     /db_xref="MIM:300552"
ORIGIN      
        1 metleseltc piclelfedp lllpcahslc fncahrilvs hcatnesves itafqcptcr
       61 hvitlsqrgl dglkrnvtlq niidrfqkas vsgpnspset rrerafdant mtsaekvlcq
      121 fcdqdpaqda vktcvtcevs ycdeclkath pnkkpftghr liepipdshi rglmclehed
      181 ekqnlesnlt nlikrntele tllakliqtc qhvevnasrq eaklteecdl lieiiqqrrq
      241 iigtkikegk vmrlrklaqq ianckqcier saslisqaeh slkendharf lqtakniter
      301 vsmatassqv lipeinlndt fdtfaldfsr ekkllecldy ltapnpptir eelctasydt
      361 itvhwtsdde fsvvsyelqy tiftgqanvv slcnsadswm ivpnikqnhy tvhglqsgtk
      421 yifmvkainq agsrssepgk lktnsqpfkl dpksahrklk vshdnltver dessskksht
      481 perftsqgsy gvagnvfids grhywevvis gstwyaigla yksapkhewi gknsaswalc
      541 rcnnnwvvrh nskeipiepa phlrrvgill dydngsiafy dalnsihlyt fdvafaqpvc
      601 ptftvwnkcl tiitglpipd hldcteqlp
//
LOCUS       NP_001347                662 aa            linear   PRI 10-APR-2023
DEFINITION  ATP-dependent RNA helicase DDX3X isoform 1 [Homo sapiens].
ACCESSION   NP_001347 XP_001126185 XP_001129278
VERSION     NP_001347.3
DBSOURCE    REFSEQ: accession NM_001356.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 662)
  AUTHORS   Chi S, Li S, Xu Z, Yang G, Song Y, Liao Z, Yang C and Wu X.
  TITLE     The involvement of DDX3X in compression-induced nucleus pulposus
            pyroptosis
  JOURNAL   Biochem Biophys Res Commun 655, 1-10 (2023)
   PUBMED   36907112
  REMARK    GeneRIF: The involvement of DDX3X in compression-induced nucleus
            pulposus pyroptosis.
REFERENCE   2  (residues 1 to 662)
  AUTHORS   Lodola C, Secchi M, Sinigiani V, De Palma A, Rossi R, Perico D,
            Mauri PL and Maga G.
  TITLE     Interaction of SARS-CoV-2 Nucleocapsid Protein and Human RNA
            Helicases DDX1 and DDX3X Modulates Their Activities on
            Double-Stranded RNA
  JOURNAL   Int J Mol Sci 24 (6), 5784 (2023)
   PUBMED   36982856
  REMARK    GeneRIF: Interaction of SARS-CoV-2 Nucleocapsid Protein and Human
            RNA Helicases DDX1 and DDX3X Modulates Their Activities on
            Double-Stranded RNA.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 662)
  AUTHORS   Liu Y, Zhang Y, Liu Q, Li T, Wang W, Li H, Yang F, Gao W, Li Z, Bai
            X and Wang Y.
  TITLE     Inhibition of DDX3X ameliorated CD4+ T cells pyroptosis and
            improves survival in septic mice
  JOURNAL   Mol Immunol 154, 54-60 (2023)
   PUBMED   36603305
  REMARK    GeneRIF: Inhibition of DDX3X ameliorated CD4[+] T cells pyroptosis
            and improves survival in septic mice.
REFERENCE   4  (residues 1 to 662)
  AUTHORS   Rauschendorf MA, Zimmer J, Ohnmacht C and Vogt PH.
  TITLE     DDX3X, the X homologue of AZFa gene DDX3Y, expresses a complex
            pattern of transcript variants only in the male germ line
  JOURNAL   Mol Hum Reprod 20 (12), 1208-1222 (2014)
   PUBMED   25208899
  REMARK    GeneRIF: Data suggest complex translational control mechanism(s)
            for the human DDX3X gene locus functioning only in the male germ
            line and resulting in expression of its protein only in the
            postmeiotic spermatids.
REFERENCE   5  (residues 1 to 662)
  AUTHORS   Sharma D and Jankowsky E.
  TITLE     The Ded1/DDX3 subfamily of DEAD-box RNA helicases
  JOURNAL   Crit Rev Biochem Mol Biol 49 (4), 343-360 (2014)
   PUBMED   25039764
  REMARK    GeneRIF: This review discusses the considerable body of work on the
            biochemistry and biology of DDX3, including the recently discovered
            link of human DDX3 to tumorigenesis.
            Review article
REFERENCE   6  (residues 1 to 662)
  AUTHORS   Soto-Rifo R and Ohlmann T.
  TITLE     The role of the DEAD-box RNA helicase DDX3 in mRNA metabolism
  JOURNAL   Wiley Interdiscip Rev RNA 4 (4), 369-385 (2013)
   PUBMED   23606618
  REMARK    Review article
REFERENCE   7  (residues 1 to 662)
  AUTHORS   You LR, Chen CM, Yeh TS, Tsai TY, Mai RT, Lin CH and Lee YH.
  TITLE     Hepatitis C virus core protein interacts with cellular putative RNA
            helicase
  JOURNAL   J Virol 73 (4), 2841-2853 (1999)
   PUBMED   10074132
REFERENCE   8  (residues 1 to 662)
  AUTHORS   Park SH, Lee SG, Kim Y and Song K.
  TITLE     Assignment of a human putative RNA helicase gene, DDX3, to human X
            chromosome bands p11.3-->p11.23
  JOURNAL   Cytogenet Cell Genet 81 (3-4), 178-179 (1998)
   PUBMED   9730595
REFERENCE   9  (residues 1 to 662)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Functional coherence of the human Y chromosome
  JOURNAL   Science 278 (5338), 675-680 (1997)
   PUBMED   9381176
REFERENCE   10 (residues 1 to 662)
  AUTHORS   Johnson-Kerner,B., Snijders Blok,L., Suit,L., Thomas,J.,
            Kleefstra,T. and Sherr,E.H.
  TITLE     DDX3X-Related Neurodevelopmental Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   32852922
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291153.1, BC007668.2,
            AU144400.1 and BM454841.1.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Dec 2, 2006 this sequence version replaced
            XP_001129278.1, XP_001126185.1, NP_001347.2.
            
            Summary: The protein encoded by this gene is a member of the large
            DEAD-box protein family, that is defined by the presence of the
            conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA
            helicase activity. This protein has been reported to display a high
            level of RNA-independent ATPase activity, and unlike most DEAD-box
            helicases, the ATPase activity is thought to be stimulated by both
            RNA and DNA. This protein has multiple conserved domains and is
            thought to play roles in both the nucleus and cytoplasm. Nuclear
            roles include transcriptional regulation, mRNP assembly, pre-mRNA
            splicing, and mRNA export. In the cytoplasm, this protein is
            thought to be involved in translation, cellular signaling, and
            viral replication. Misregulation of this gene has been implicated
            in tumorigenesis. This gene has a paralog located in the
            nonrecombining region of the Y chromosome. Pseudogenes sharing
            similarity to both this gene and the DDX3Y paralog are found on
            chromosome 4 and the X chromosome. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Oct 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK291153.1, AF000982.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644876.2/ ENSP00000494040.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..662
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.4"
     Protein         1..662
                     /product="ATP-dependent RNA helicase DDX3X isoform 1"
                     /EC_number="3.6.4.13"
                     /note="DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3;
                     DEAD/H box-3; ATP-dependent RNA helicase DDX3X;
                     helicase-like protein 2; DEAD box protein 3,
                     X-chromosomal; DEAD (Asp-Glu-Ala-Asp) box polypeptide 3,
                     X-linked; DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked"
                     /calculated_mol_wt=73113
     Region          2..139
                     /region_name="Required for TBK1 and IKBKE-dependent IFNB1
                     activation. /evidence=ECO:0000269|PubMed:18636090"
                     /note="propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:10859333,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:22223895;
                     propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Region          12..21
                     /region_name="Nuclear export signal.
                     /evidence=ECO:0000269|PubMed:30131165,
                     ECO:0000269|PubMed:31575075"
                     /note="propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Region          19..144
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Region          38..44
                     /region_name="Interaction with EIF4E.
                     /evidence=ECO:0000269|PubMed:17667941"
                     /note="propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Site            55
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q62167; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Region          57..580
                     /region_name="PTZ00110"
                     /note="helicase; Provisional"
                     /db_xref="CDD:240273"
     Region          81..90
                     /region_name="Interaction with VACV protein K7.
                     /evidence=ECO:0000269|PubMed:19913487"
                     /note="propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Site            82
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            86
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Region          88..123
                     /region_name="Involved in binding to RNA G-quadruplex.
                     /evidence=ECO:0000269|PubMed:30256975"
                     /note="propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Site            90
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Region          100..662
                     /region_name="Interaction with GSK3B.
                     /evidence=ECO:0000269|PubMed:18846110"
                     /note="propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Region          100..110
                     /region_name="Interaction with IKBKE"
                     /note="propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Site            101
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q62167; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            102
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by IKKE.
                     /evidence=ECO:0000269|PubMed:23478265; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            104
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q62167; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            110
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q62167; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            118
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            131
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Region          139..172
                     /region_name="Interaction with CHUK.
                     /evidence=ECO:0000269|PubMed:17667941"
                     /note="propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Region          160..410
                     /region_name="DEADc_DDX3"
                     /note="DEAD-box helicase domain of DEAD box protein 3;
                     cd18051"
                     /db_xref="CDD:350809"
     Site            order(160,170,182,200,202..204,207,225..231,347..348,383)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350809"
     Region          180..208
                     /region_name="Q motif"
                     /note="propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Site            181
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by TBK1, in vitro.
                     /evidence=ECO:0000269|PubMed:18583960; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            183
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by TBK1.
                     /evidence=ECO:0000269|PubMed:18583960,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            240
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by TBK1, in vitro.
                     /evidence=ECO:0000269|PubMed:18583960; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Region          250..259
                     /region_name="Involved in stimulation of ATPase activity
                     by DNA and RNA, nucleic acid binding and unwinding and
                     HIV-1 replication"
                     /note="propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Site            269
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by TBK1, in vitro.
                     /evidence=ECO:0000269|PubMed:18583960; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            order(274..276,302..303,323..326,329,351,357)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:350809"
     Region          347..350
                     /region_name="DEAD box"
                     /note="propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Region          409..662
                     /region_name="Interaction with HCV core protein.
                     /evidence=ECO:0000269|PubMed:10329544"
                     /note="propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Site            429
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CSNK1E and TBK1, in vitro.
                     /evidence=ECO:0000269|PubMed:18583960,
                     ECO:0000269|PubMed:29222110; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            438
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by TBK1, in vitro.
                     /evidence=ECO:0000269|PubMed:18583960; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            442
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by TBK1, in vitro.
                     /evidence=ECO:0000269|PubMed:18583960; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            456
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by TBK1, in vitro.
                     /evidence=ECO:0000269|PubMed:18583960; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            469
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CSNK1E, in vitro.
                     /evidence=ECO:0000269|PubMed:29222110; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            470
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CSNK1E, in vitro.
                     /evidence=ECO:0000269|PubMed:29222110; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            520
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by TBK1, in vitro.
                     /evidence=ECO:0000269|PubMed:18583960; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Region          536..661
                     /region_name="Interaction with NXF1.
                     /evidence=ECO:0000269|PubMed:18596238"
                     /note="propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Site            542
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by TBK1, in vitro.
                     /evidence=ECO:0000269|PubMed:18583960; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            543
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CSNK1E and TBK1, in vitro.
                     /evidence=ECO:0000269|PubMed:18583960,
                     ECO:0000269|PubMed:29222110; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            592
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            594
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Region          601..634
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00571.3)"
     Site            605
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            612
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            617
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     Site            632
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (O00571.3)"
     CDS             1..662
                     /gene="DDX3X"
                     /gene_synonym="CAP-Rf; DBX; DDX14; DDX3; HLP2; MRX102;
                     MRXSSB"
                     /coded_by="NM_001356.5:92..2080"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS43931.1"
                     /db_xref="GeneID:1654"
                     /db_xref="HGNC:HGNC:2745"
                     /db_xref="MIM:300160"
ORIGIN      
        1 mshvavenal gldqqfagld lnssdnqsgg staskgryip phlrnreatk gfydkdssgw
       61 ssskdkdays sfgsrsdsrg kssffsdrgs gsrgrfddrg rsdydgigsr gdrsgfgkfe
      121 rggnsrwcdk sdeddwskpl ppserleqel fsggntginf ekyddipvea tgnncpphie
      181 sfsdvemgei imgnieltry trptpvqkha ipiikekrdl macaqtgsgk taafllpils
      241 qiysdgpgea lramkengry grrkqypisl vlaptrelav qiyeearkfs yrsrvrpcvv
      301 yggadigqqi rdlergchll vatpgrlvdm mergkigldf ckylvldead rmldmgfepq
      361 irriveqdtm ppkgvrhtmm fsatfpkeiq mlardfldey iflavgrvgs tsenitqkvv
      421 wveesdkrsf lldllnatgk dsltlvfvet kkgadsledf lyhegyacts ihgdrsqrdr
      481 eealhqfrsg kspilvatav aargldisnv khvinfdlps dieeyvhrig rtgrvgnlgl
      541 atsffnerni nitkdlldll veakqevpsw lenmayehhy kgssrgrsks srfsggfgar
      601 dyrqssgass ssfsssrass srsgggghgs srgfggggyg gfynsdgygg nynsqgvdww
      661 gn
//
LOCUS       NP_001337689             218 aa            linear   PRI 17-APR-2023
DEFINITION  ribosome biogenesis protein C1orf109 isoform 6 [Homo sapiens].
ACCESSION   NP_001337689 XP_005271038
VERSION     NP_001337689.1
DBSOURCE    REFSEQ: accession NM_001350760.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 218)
  AUTHORS   Sun J, Zhang X and Sun Y.
  TITLE     C1orf109 promotes malignant phenotype of liver cancer via wnt
            signaling pathway in a CK2-dependent manner
  JOURNAL   J Mol Histol 54 (2), 135-145 (2023)
   PUBMED   36988773
  REMARK    GeneRIF: C1orf109 promotes malignant phenotype of liver cancer via
            wnt signaling pathway in a CK2-dependent manner.
REFERENCE   2  (residues 1 to 218)
  AUTHORS   Ni C, Schmitz DA, Lee J, Pawlowski K, Wu J and Buszczak M.
  TITLE     Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5
            control a late step in human ribosome assembly
  JOURNAL   Cell Rep 38 (13), 110597 (2022)
   PUBMED   35354024
  REMARK    GeneRIF: Labeling of heterochronic ribosomes reveals C1ORF109 and
            SPATA5 control a late step in human ribosome assembly.
REFERENCE   3  (residues 1 to 218)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 218)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 218)
  AUTHORS   Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V,
            MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG,
            Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ,
            Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E,
            Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell
            CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R,
            Tay WT, Zheng Y, Chew M, Burdon KP, Craig JE, Iyengar SK, Igo RP
            Jr, Lass JH Jr, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja
            J, Simpson CL, Wojciechowski R, Hohn R, Mirshahi A, Zeller T,
            Pfeiffer N, Lackner KJ, Bettecken T, Meitinger T, Oexle K, Pirastu
            M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE,
            Hosseini SM, Paterson AD, Makela KM, Lehtimaki T, Kahonen M,
            Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap
            MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai
            ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A,
            Uitterlinden AG, Bencic G, Khor CC, Forward H, Parssinen O,
            Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo
            YY, Hammond CJ, Stambolian D, Mackey DA, Klaver CC, Wong TY, Saw SM
            and Baird PN.
  CONSRTM   Consortium for Refractive Error and Myopia; Fuchs' Genetics
            Multi-Center Study Group; Wellcome Trust Case Control Consortium 2;
            Diabetes Control and Complications Trial/Epidemiology of Diabetes
            Interventions, and Complications Research Group
  TITLE     Nine loci for ocular axial length identified through genome-wide
            association studies, including shared loci with refractive error
  JOURNAL   Am J Hum Genet 93 (2), 264-277 (2013)
   PUBMED   24144296
REFERENCE   6  (residues 1 to 218)
  AUTHORS   Liu SS, Zheng HX, Jiang HD, He J, Yu Y, Qu YP, Yue L, Zhang Y and
            Li Y.
  TITLE     Identification and characterization of a novel gene, c1orf109,
            encoding a CK2 substrate that is involved in cancer cell
            proliferation
  JOURNAL   J Biomed Sci 19 (1), 49 (2012)
   PUBMED   22548824
  REMARK    GeneRIF: our findings suggest that C1ORF109 may be the downstream
            target of protein kinase CK2 and involved in the regulation of
            cancer cell proliferation.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 218)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   8  (residues 1 to 218)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC314995.1, DA472787.1, AK000515.1, DA608785.1 and BC018109.1.
            On Apr 22, 2017 this sequence version replaced XP_005271038.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1687536.1,
                                           SRR14038197.2689427.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153307 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..218
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     Protein         1..218
                     /product="ribosome biogenesis protein C1orf109 isoform 6"
                     /note="uncharacterized protein C1orf109; ribosome
                     biogenesis protein C1orf109"
                     /calculated_mol_wt=24629
     Region          13..151
                     /region_name="CK2S"
                     /note="Casein Kinase 2 substrate; pfam15011"
                     /db_xref="CDD:434389"
     CDS             1..218
                     /gene="AIRIM"
                     /gene_synonym="C1orf109"
                     /coded_by="NM_001350760.2:532..1188"
                     /note="isoform 6 is encoded by transcript variant 9"
                     /db_xref="GeneID:54955"
                     /db_xref="HGNC:HGNC:26039"
                     /db_xref="MIM:614799"
ORIGIN      
        1 mtqdrpllav qealkkcfpv veeqqglwqs alrdcqplls slsnlaeqlq aaqnlrfedv
       61 palrafpdlk erlrrkqlva gdivldklge rlaillkvrd mvsshvervf qiyeqhadtv
      121 gidavlqpsa vspsvadmle wlqdierhyr kskvpeekvs sfvypvgrlg khtsfaqglg
      181 pnfkrrtprs ctrypiecfl lpgrvrklcv sgdhgyhs
//
LOCUS       NP_001365088             688 aa            linear   PRI 17-APR-2023
DEFINITION  X-ray radiation resistance-associated protein 1 isoform 6 [Homo
            sapiens].
ACCESSION   NP_001365088 XP_011543066
VERSION     NP_001365088.1
DBSOURCE    REFSEQ: accession NM_001378159.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 688)
  AUTHORS   Chang X, March M, Mentch F, Qu H, Liu Y, Glessner J, Sleiman P and
            Hakonarson H.
  TITLE     Genetic architecture of asthma in African American patients
  JOURNAL   J Allergy Clin Immunol 151 (4), 1132-1136 (2023)
   PUBMED   36089080
  REMARK    GeneRIF: Genetic architecture of asthma in African American
            patients.
REFERENCE   2  (residues 1 to 688)
  AUTHORS   Wang W, Guo M, Xia X, Zhang C, Zeng Y and Wu S.
  TITLE     XRRA1 Targets ATM/CHK1/2-Mediated DNA Repair in Colorectal Cancer
  JOURNAL   Biomed Res Int 2017, 5718968 (2017)
   PUBMED   29082250
  REMARK    GeneRIF: our results identify a novel link between XRRA1 and the
            ATM/CHK1/2 pathway and suggest that XRRA1 is involved in a DNA
            damage response that drives radio- and chemoresistance by
            regulating the ATM/CHK1/2 pathway.
            Erratum:[Biomed Res Int. 2021 Feb 19;2021:3030267. PMID: 33728327]
REFERENCE   3  (residues 1 to 688)
  AUTHORS   Mori T, Watanuki T and Kashiwagura T.
  TITLE     Diesel exhaust particles disturb gene expression in mouse testis
  JOURNAL   Environ Toxicol 22 (1), 58-63 (2007)
   PUBMED   17295261
REFERENCE   4  (residues 1 to 688)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   5  (residues 1 to 688)
  AUTHORS   Mesak FM, Osada N, Hashimoto K, Liu QY and Ng CE.
  TITLE     Molecular cloning, genomic characterization and over-expression of
            a novel gene, XRRA1, identified from human colorectal cancer cell
            HCT116Clone2_XRR and macaque testis
  JOURNAL   BMC Genomics 4 (1), 32 (2003)
   PUBMED   12908878
  REMARK    GeneRIF: Molecular cloning and gene expression patterns of XRRA1.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001992.4 and AP000560.4.
            On Jan 30, 2020 this sequence version replaced XP_011543066.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1303282.1,
                                           SRR14038196.2878186.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..688
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..688
                     /product="X-ray radiation resistance-associated protein 1
                     isoform 6"
                     /note="X-ray radiation resistance-associated protein 1"
                     /calculated_mol_wt=77756
     Region          <116..>320
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:227223"
     Region          150..172
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          173..196
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          197..228
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          238..262
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..688
                     /gene="XRRA1"
                     /coded_by="NM_001378159.1:237..2303"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="GeneID:143570"
                     /db_xref="HGNC:HGNC:18868"
                     /db_xref="MIM:609788"
ORIGIN      
        1 mafsgiykld dgkpylnncf parnllrvpe egqghwlvvq kgnlkkkpkg lvgaqaerre
       61 slkatsfefk gkkesrrenq vdlpghildq afllkhhcvr kpsdlctinv sglkfskake
      121 ndfkhfhsvi yinasenllp leafhtfpal keldlafngi ktiyvkygdf kllefldlsf
      181 nsltveaicd lgilphlrvl lltgngltsl ppnlavaeqe asvtsltskr yilrfpalet
      241 lmlddnrlsn pscfaslagl rrlkklslde nriiripylq qvqlydesvd wnggrgsphk
      301 epqfmlqskp rmledsdeql dytvlpmkkd vdrtevvfss ypgfstsevk seipkvpkqp
      361 lvlhhprmtt tkspskdmle peaelaedlp ttkstsvese mptenleghs pscrtfvplp
      421 picsnstvhs eetlshlsdt tvrlsperps dedskstesi fltqvselps svihkddlel
      481 kekdqkkppt aprevkgtrr klptaflpsk yhgyeellta kpdpafiepk giqknaqalq
      541 qmlkhpllch sskpkldtlq kpyvhkekra qripipppkk traqllddif irlrdprnit
      601 eaplgavlhq wterrlvnhk qyleakrllk efqaryrqlv sgslrtvfgt tplpmacpal
      661 sesqpkfghf lefmdefcqe ptasdsqg
//
LOCUS       NP_660321                135 aa            linear   PRI 17-DEC-2022
DEFINITION  germinal center-associated signaling and motility-like protein
            isoform a [Homo sapiens].
ACCESSION   NP_660321
VERSION     NP_660321.1
DBSOURCE    REFSEQ: accession NM_145278.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 135)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 135)
  AUTHORS   de Sa Machado Araujo G, da Silva Francisco Junior R, Dos Santos
            Ferreira C, Mozer Rodrigues PT, Terra Machado D, Louvain de Souza
            T, Teixeira de Souza J, Figueiredo Osorio da Silva C, Alves da
            Silva AF, Andrade CCF, da Silva AT, Ramos V, Garcia AB, Machado FB
            and Medina-Acosta E.
  TITLE     Maternal 5mCpG Imprints at the PARD6G-AS1 and GCSAML Differentially
            Methylated Regions Are Decoupled From Parent-of-Origin Expression
            Effects in Multiple Human Tissues
  JOURNAL   Front Genet 9, 36 (2018)
   PUBMED   29545821
  REMARK    GeneRIF: Maternal 5mCpG imprints at the GCSAML somatic (secondary)
            differentially methylated region (iDMR) are decoupled from
            parent-of-origin expression effects in multiple human tissues.
            Despite the constitutive methylation asymmetry observed for the
            parental alleles at the iDMR, GCSAML was expressed biallelically in
            five tissues: visceral adipose tissue, brain - cerebellar
            hemisphere, brain cerebellum, prostate, and testis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 135)
  AUTHORS   Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G,
            Serbanovic-Canic J, Elling U, Goodall AH, Labrune Y, Lopez LM, Magi
            R, Meacham S, Okada Y, Pirastu N, Sorice R, Teumer A, Voss K, Zhang
            W, Ramirez-Solis R, Bis JC, Ellinghaus D, Gogele M, Hottenga JJ,
            Langenberg C, Kovacs P, O'Reilly PF, Shin SY, Esko T, Hartiala J,
            Kanoni S, Murgia F, Parsa A, Stephens J, van der Harst P, Ellen van
            der Schoot C, Allayee H, Attwood A, Balkau B, Bastardot F, Basu S,
            Baumeister SE, Biino G, Bomba L, Bonnefond A, Cambien F, Chambers
            JC, Cucca F, D'Adamo P, Davies G, de Boer RA, de Geus EJ, Doring A,
            Elliott P, Erdmann J, Evans DM, Falchi M, Feng W, Folsom AR, Frazer
            IH, Gibson QD, Glazer NL, Hammond C, Hartikainen AL, Heckbert SR,
            Hengstenberg C, Hersch M, Illig T, Loos RJ, Jolley J, Khaw KT,
            Kuhnel B, Kyrtsonis MC, Lagou V, Lloyd-Jones H, Lumley T, Mangino
            M, Maschio A, Mateo Leach I, McKnight B, Memari Y, Mitchell BD,
            Montgomery GW, Nakamura Y, Nauck M, Navis G, Nothlings U, Nolte IM,
            Porteous DJ, Pouta A, Pramstaller PP, Pullat J, Ring SM, Rotter JI,
            Ruggiero D, Ruokonen A, Sala C, Samani NJ, Sambrook J, Schlessinger
            D, Schreiber S, Schunkert H, Scott J, Smith NL, Snieder H, Starr
            JM, Stumvoll M, Takahashi A, Tang WH, Taylor K, Tenesa A, Lay Thein
            S, Tonjes A, Uda M, Ulivi S, van Veldhuisen DJ, Visscher PM, Volker
            U, Wichmann HE, Wiggins KL, Willemsen G, Yang TP, Hua Zhao J,
            Zitting P, Bradley JR, Dedoussis GV, Gasparini P, Hazen SL,
            Metspalu A, Pirastu M, Shuldiner AR, Joost van Pelt L, Zwaginga JJ,
            Boomsma DI, Deary IJ, Franke A, Froguel P, Ganesh SK, Jarvelin MR,
            Martin NG, Meisinger C, Psaty BM, Spector TD, Wareham NJ, Akkerman
            JW, Ciullo M, Deloukas P, Greinacher A, Jupe S, Kamatani N, Khadake
            J, Kooner JS, Penninger J, Prokopenko I, Stemple D, Toniolo D,
            Wernisch L, Sanna S, Hicks AA, Rendon A, Ferreira MA, Ouwehand WH
            and Soranzo N.
  TITLE     New gene functions in megakaryopoiesis and platelet formation
  JOURNAL   Nature 480 (7376), 201-208 (2011)
   PUBMED   22139419
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 135)
  AUTHORS   Trevino LR, Yang W, French D, Hunger SP, Carroll WL, Devidas M,
            Willman C, Neale G, Downing J, Raimondi SC, Pui CH, Evans WE and
            Relling MV.
  TITLE     Germline genomic variants associated with childhood acute
            lymphoblastic leukemia
  JOURNAL   Nat Genet 41 (9), 1001-1005 (2009)
   PUBMED   19684603
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK124520.1, BC024174.1,
            AL606804.11 and BU852381.1.
            
            Summary: This gene encodes a protein thought to be a signaling
            molecule associated with germinal centers, the sites of
            proliferation and differentiation of mature B lymphocytes.
            Alternate splicing results in multiple transcript variants.
            [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). The 5' UTR splicing pattern has not been determined for this
            variant. Variants 1 and 7 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.75240.1, BC024174.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366488.5/ ENSP00000355444.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..135
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     Protein         1..135
                     /product="germinal center-associated signaling and
                     motility-like protein isoform a"
                     /note="germinal center-associated signaling and
                     motility-like protein"
                     /calculated_mol_wt=15581
     Region          1..68
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQS6.1)"
     Region          48..134
                     /region_name="HGAL"
                     /note="Germinal center-associated lymphoma; pfam15666"
                     /db_xref="CDD:406161"
     CDS             1..135
                     /gene="GCSAML"
                     /gene_synonym="C1orf150"
                     /coded_by="NM_145278.5:59..466"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1635.1"
                     /db_xref="GeneID:148823"
                     /db_xref="HGNC:HGNC:29583"
ORIGIN      
        1 mgnyllrkls clgenqkkpk kgnpdeerkr qemttferkl qdqdkksqev sstsnqenen
       61 gsgseevcyt vinhiphqrs slssnddgye nidsltrkvr qfrersetey allrtsvsrp
      121 cscthehdye vvfph
//
LOCUS       NP_001273653             628 aa            linear   PRI 18-DEC-2022
DEFINITION  constitutive coactivator of PPAR-gamma-like protein 1 isoform d
            [Homo sapiens].
ACCESSION   NP_001273653
VERSION     NP_001273653.1
DBSOURCE    REFSEQ: accession NM_001286724.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 628)
  AUTHORS   Zhou T, Ni T, Li Y, Zhang Q, Yan J and Chen ZJ.
  TITLE     circFAM120A participates in repeated implantation failure by
            regulating decidualization via the miR-29/ABHD5 axis
  JOURNAL   FASEB J 35 (9), e21872 (2021)
   PUBMED   34449947
  REMARK    GeneRIF: circFAM120A participates in repeated implantation failure
            by regulating decidualization via the miR-29/ABHD5 axis.
REFERENCE   2  (residues 1 to 628)
  AUTHORS   Westeneng HJ, Walhout R, Straathof M, Schmidt R, Hendrikse J,
            Veldink JH, van den Heuvel MP and van den Berg LH.
  TITLE     Widespread structural brain involvement in ALS is not limited to
            the C9orf72 repeat expansion
  JOURNAL   J Neurol Neurosurg Psychiatry 87 (12), 1354-1360 (2016)
   PUBMED   27756805
  REMARK    GeneRIF: his study shows that widespread structural brain
            involvement is not limited to C9+ patients, but also presents in a
            subgroup of C9- patients with ALS and relates to cognitive
            deficits. Our neuroimaging findings reveal an intermediate
            phenotype that may provide insight into the complex relationship
            between genetic factors and clinical characteristics.
REFERENCE   3  (residues 1 to 628)
  AUTHORS   Yao,X.K., Pan,Z.P., Li,Y., Lun,Y.Z., Chi,Q., Jiang,S.J., Wang,F.
            and Sui,W.
  TITLE     Downregulation of SWI5 and CTC1 genes: hepatitis B virus DNA
            polymerase transactivated protein 1-mediated inhibition of DNA
            repair
  JOURNAL   Acta Virol 60 (2), 190-195 (2016)
   PUBMED   27265469
REFERENCE   4  (residues 1 to 628)
  AUTHORS   Bartolome RA, Garcia-Palmero I, Torres S, Lopez-Lucendo M,
            Balyasnikova IV and Casal JI.
  TITLE     IL13 Receptor alpha2 Signaling Requires a Scaffold Protein,
            FAM120A, to Activate the FAK and PI3K Pathways in Colon Cancer
            Metastasis
  JOURNAL   Cancer Res 75 (12), 2434-2444 (2015)
   PUBMED   25896327
  REMARK    GeneRIF: Results identified FAM120A in the IL13/IL13Ralpha2
            signaling pathway as a key mediator of invasion and liver
            metastasis in colon cancer.
REFERENCE   5  (residues 1 to 628)
  AUTHORS   Warrington NM, Howe LD, Paternoster L, Kaakinen M, Herrala S,
            Huikari V, Wu YY, Kemp JP, Timpson NJ, St Pourcain B, Davey Smith
            G, Tilling K, Jarvelin MR, Pennell CE, Evans DM, Lawlor DA,
            Briollais L and Palmer LJ.
  TITLE     A genome-wide association study of body mass index across early
            life and childhood
  JOURNAL   Int J Epidemiol 44 (2), 700-712 (2015)
   PUBMED   25953783
  REMARK    GeneRIF: Results identify novel SNP in FAM120A on chromosome 9
            associated with differences in BMI in childhood which may
            predispose obesity.
REFERENCE   6  (residues 1 to 628)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   7  (residues 1 to 628)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   8  (residues 1 to 628)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   9  (residues 1 to 628)
  AUTHORS   Tanaka M, Sasaki K, Kamata R, Hoshino Y, Yanagihara K and Sakai R.
  TITLE     A novel RNA-binding protein, Ossa/C9orf10, regulates activity of
            Src kinases to protect cells from oxidative stress-induced
            apoptosis
  JOURNAL   Mol Cell Biol 29 (2), 402-413 (2009)
   PUBMED   19015244
  REMARK    GeneRIF: study reports that C9orf10 (designated Ossa for oxidative
            stress-associated Src activator) is a novel RNA-binding protein
            that guards cancer cells from oxidative stress-induced apoptosis by
            activation of Src family kinases
REFERENCE   10 (residues 1 to 628)
  AUTHORS   Holden S and Raymond FL.
  TITLE     The human gene CXorf17 encodes a member of a novel family of
            putative transmembrane proteins: cDNA cloning and characterization
            of CXorf17 and its mouse ortholog orf34
  JOURNAL   Gene 318, 149-161 (2003)
   PUBMED   14585507
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL353629.22, BC075701.1, AF214738.1, BC111736.1, CA310462.1 and
            R40697.1.
            
            Transcript Variant: This variant (4) lacks several 3' exons but
            includes an alternate 3' exon, and it thus differs in the 3' coding
            region and 3' UTR, compared to variant 1. The encoded isoform (d)
            has a distinct C-terminus and is significantly shorter than isoform
            a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF214738.1, SRR1163655.137893.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..628
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.31"
     Protein         1..628
                     /product="constitutive coactivator of PPAR-gamma-like
                     protein 1 isoform d"
                     /note="constitutive coactivator of PPAR-gamma-like protein
                     1; oxidative stress-associated Src activator; oxidative
                     stess-associated Src activator"
                     /calculated_mol_wt=68862
     Region          5..220
                     /region_name="PIN_SF"
                     /note="PIN (PilT N terminus) domain: Superfamily; cl28905"
                     /db_xref="CDD:452894"
     Region          <330..527
                     /region_name="PHA03378"
                     /note="EBNA-3B; Provisional"
                     /db_xref="CDD:223065"
     Region          339..405
                     /region_name="Interaction with YES1, SRC and FYN.
                     /evidence=ECO:0000269|PubMed:19015244"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NZB2.2)"
     Region          374..533
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NZB2.2)"
     CDS             1..628
                     /gene="FAM120A"
                     /gene_synonym="C9orf10; HBVPTPAP; OSSA"
                     /coded_by="NM_001286724.2:232..2118"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS75859.1"
                     /db_xref="GeneID:23196"
                     /db_xref="HGNC:HGNC:13247"
                     /db_xref="MIM:612265"
ORIGIN      
        1 mgvqgfqdyi ekhcpsavvp velqklargs lvgggrqrpp qtplrllvda dnclhrlygg
       61 fytdwvsggq wnhmlgylaa lakacfggni elfvffngal ekarlhewvk rqgnerqtaq
      121 qivshvqnkg tpppkvwflp pvcmahcirl alirfhvkva qsiedhhqev igfcrengfh
      181 glvaydsdya lcnipyyfsa halklsrngk slttsqylmh evakqldlnp nrfpifaall
      241 gnhilpdedl asfhwsllgp ehplaslkvr ahqlvlppcd vvikavadyv rniqdtsdld
      301 aiakdvfqhs qsrtddkvir fkraigyysa tskpmsfhpp hylaarpgpf gmpgmvpphv
      361 ppqmlnipqt slqakpvapq vpspggapgq gpypyslsep apltldtsgk nlteqnsysn
      421 iphegkhtpl yersspinpa qsgspnhvds ayfpgsstss ssdndegsgg atnhisgnki
      481 gwektgshse pqargdpgdq tkaegsstas sgsqlaegkg sqmgtvqpip cllsmptrnh
      541 mdittpplpp vapevlrvae hrhkkglmyp yifhvltkvl skgpwsgfcy lmsghsygcf
      601 vllsffepff cltnlletkf tfpflnie
//
LOCUS       NP_001271445             262 aa            linear   PRI 18-DEC-2022
DEFINITION  zinc finger protein Aiolos isoform 14 [Homo sapiens].
ACCESSION   NP_001271445
VERSION     NP_001271445.1
DBSOURCE    REFSEQ: accession NM_001284516.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 262)
  AUTHORS   Lin CY, Yu CJ, Shen CI, Liu CY, Chao TC, Huang CC, Tseng LM and Lai
            JI.
  TITLE     IKZF3 amplification frequently occurs in HER2-positive breast
            cancer and is a potential therapeutic target
  JOURNAL   Med Oncol 39 (12), 242 (2022)
   PUBMED   36180600
  REMARK    GeneRIF: IKZF3 amplification frequently occurs in HER2-positive
            breast cancer and is a potential therapeutic target.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 262)
  AUTHORS   Yamashita M and Morio T.
  TITLE     AIOLOS Variants Causing Immunodeficiency in Human and Mice
  JOURNAL   Front Immunol 13, 866582 (2022)
   PUBMED   35444653
  REMARK    GeneRIF: AIOLOS Variants Causing Immunodeficiency in Human and
            Mice.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 262)
  AUTHORS   Zou Y, Liu B, Li L, Yin Q, Tang J, Jing Z, Huang X, Zhu X and Chi
            T.
  TITLE     IKZF3 deficiency potentiates chimeric antigen receptor T cells
            targeting solid tumors
  JOURNAL   Cancer Lett 524, 121-130 (2022)
   PUBMED   34687790
  REMARK    GeneRIF: IKZF3 deficiency potentiates chimeric antigen receptor T
            cells targeting solid tumors.
REFERENCE   4  (residues 1 to 262)
  AUTHORS   Kuehn HS, Chang J, Yamashita M, Niemela JE, Zou C, Okuyama K,
            Harada J, Stoddard JL, Nunes-Santos CJ, Boast B, Baxter RM, Hsieh
            EWY, Garofalo M, Fleisher TA, Morio T, Taniuchi I, Dutmer CM and
            Rosenzweig SD.
  TITLE     T and B cell abnormalities, pneumocystis pneumonia, and chronic
            lymphocytic leukemia associated with an AIOLOS defect in patients
  JOURNAL   J Exp Med 218 (12) (2021)
   PUBMED   34694366
  REMARK    GeneRIF: T and B cell abnormalities, pneumocystis pneumonia, and
            chronic lymphocytic leukemia associated with an AIOLOS defect in
            patients.
REFERENCE   5  (residues 1 to 262)
  AUTHORS   Caballero R, Setien F, Lopez-Serra L, Boix-Chornet M, Fraga MF,
            Ropero S, Megias D, Alaminos M, Sanchez-Tapia EM, Montoya MC,
            Esteller M, Gonzalez-Sarmiento R and Ballestar E.
  TITLE     Combinatorial effects of splice variants modulate function of
            Aiolos
  JOURNAL   J Cell Sci 120 (Pt 15), 2619-2630 (2007)
   PUBMED   17646674
  REMARK    GeneRIF: this work demonstrates that the cellular activities of
            Aiolos isoforms are dependent on combinations of various functional
            domains arising from the differential splicing of mRNA transcripts
REFERENCE   6  (residues 1 to 262)
  AUTHORS   Liippo J, Nera KP, Veistinen E, Lahdesmaki A, Postila V, Kimby E,
            Riikonen P, Hammarstrom L, Pelkonen J and Lassila O.
  TITLE     Both normal and leukemic B lymphocytes express multiple isoforms of
            the human Aiolos gene
  JOURNAL   Eur J Immunol 31 (12), 3469-3474 (2001)
   PUBMED   11745366
REFERENCE   7  (residues 1 to 262)
  AUTHORS   Hosokawa Y, Maeda Y, Takahashi Ei, Suzuki M and Seto M.
  TITLE     Human aiolos, an ikaros-related zinc finger DNA binding protein:
            cDNA cloning, tissue expression pattern, and chromosomal mapping
  JOURNAL   Genomics 61 (3), 326-329 (1999)
   PUBMED   10552935
REFERENCE   8  (residues 1 to 262)
  AUTHORS   Romero F, Martinez-A C, Camonis J and Rebollo A.
  TITLE     Aiolos transcription factor controls cell death in T cells by
            regulating Bcl-2 expression and its cellular localization
  JOURNAL   EMBO J 18 (12), 3419-3430 (1999)
   PUBMED   10369681
REFERENCE   9  (residues 1 to 262)
  AUTHORS   Wang JH, Avitahl N, Cariappa A, Friedrich C, Ikeda T, Renold A,
            Andrikopoulos K, Liang L, Pillai S, Morgan BA and Georgopoulos K.
  TITLE     Aiolos regulates B cell activation and maturation to effector state
  JOURNAL   Immunity 9 (4), 543-553 (1998)
   PUBMED   9806640
REFERENCE   10 (residues 1 to 262)
  AUTHORS   Morgan B, Sun L, Avitahl N, Andrikopoulos K, Ikeda T, Gonzales E,
            Wu P, Neben S and Georgopoulos K.
  TITLE     Aiolos, a lymphoid restricted transcription factor that interacts
            with Ikaros to regulate lymphocyte differentiation
  JOURNAL   EMBO J 16 (8), 2004-2013 (1997)
   PUBMED   9155026
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK301250.1, AC079199.9 and
            AI866838.1.
            
            Summary: This gene encodes a member of the Ikaros family of
            zinc-finger proteins. Three members of this protein family (Ikaros,
            Aiolos and Helios) are hematopoietic-specific transcription factors
            involved in the regulation of lymphocyte development. This gene
            product is a transcription factor that is important in the
            regulation of B lymphocyte proliferation and differentiation. Both
            Ikaros and Aiolos can participate in chromatin remodeling.
            Regulation of gene expression in B lymphocytes by Aiolos is complex
            as it appears to require the sequential formation of Ikaros
            homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers.
            Several alternative transcripts encoding different isoforms have
            been described, as well as some non-protein coding variants.
            [provided by RefSeq, Apr 2012].
            
            Transcript Variant: This variant (16) represents use of an
            alternate promoter and thus differs in the 5' UTR and 5' coding
            region, compared to variant 1. These differences cause translation
            initiation at a downstream start codon and result in an isoform
            (14) with a shorter N-terminus, compared to isoform 1. Variants 14,
            15, and 16 encode the same isoform (14).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK301250.1, SRR1163655.350702.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..262
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12-q21.1"
     Protein         1..262
                     /product="zinc finger protein Aiolos isoform 14"
                     /note="zinc finger protein, subfamily 1A, 3 (Aiolos); zinc
                     finger DNA binding protein Aiolos"
                     /calculated_mol_wt=29842
     CDS             1..262
                     /gene="IKZF3"
                     /gene_synonym="AIO; AIOLOS; IMD84; ZNFN1A3"
                     /coded_by="NM_001284516.1:374..1162"
                     /note="isoform 14 is encoded by transcript variant 16"
                     /db_xref="CCDS:CCDS74055.1"
                     /db_xref="GeneID:22806"
                     /db_xref="HGNC:HGNC:13178"
                     /db_xref="MIM:606221"
ORIGIN      
        1 mgseralvld rlasnvakrk ssmpqkfige krhcfdvnyn ssymyekese liqtrmmdqa
       61 innaisylga ealrplvqtp paptsemvpv issmypialt raemsngapq elekksihlp
      121 eksvpsergl spnnsghdst dtdsnheerq nhiyqqnhmv lsrarngmpl lkevprsyel
      181 lkpppicprd svkvinkege vmdvyrcdhc rvlfldyvmf tihmgchgfr dpfecnmcgy
      241 rshdryefss hiargehral lk
//
LOCUS       NP_001350753             201 aa            linear   PRI 24-DEC-2022
DEFINITION  bcl-2-like protein 13 isoform j [Homo sapiens].
ACCESSION   NP_001350753 XP_016884222
VERSION     NP_001350753.1
DBSOURCE    REFSEQ: accession NM_001363824.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 201)
  AUTHORS   Zhang G, Guo J, Zeng J, Zhang X, Chen R, Wang G and Liang W.
  TITLE     LncRNA SNHG14 is beneficial to oxygen glucose
            deprivation/reoxygenation-induced neuro-2a cell injury via
            mir-98-5p sequestration-caused BCL2L13 upregulation
  JOURNAL   Metab Brain Dis 37 (6), 2005-2016 (2022)
   PUBMED   35678981
  REMARK    GeneRIF: LncRNA SNHG14 is beneficial to oxygen glucose
            deprivation/reoxygenation-induced neuro-2a cell injury via
            mir-98-5p sequestration-caused BCL2L13 upregulation.
REFERENCE   2  (residues 1 to 201)
  AUTHORS   Li M, Jia J, Zhang X and Dai H.
  TITLE     Selective binding of mitophagy receptor protein Bcl-rambo to
            LC3/GABARAP family proteins
  JOURNAL   Biochem Biophys Res Commun 530 (1), 292-300 (2020)
   PUBMED   32828302
  REMARK    GeneRIF: Selective binding of mitophagy receptor protein Bcl-rambo
            to LC3/GABARAP family proteins.
REFERENCE   3  (residues 1 to 201)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 201)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 201)
  AUTHORS   Jakiela B, Szczeklik W, Sokolowska B, Mastalerz L, Sanak M,
            Plutecka H and Szczeklik A.
  TITLE     Intrinsic pathway of apoptosis in peripheral blood eosinophils of
            Churg-Strauss syndrome
  JOURNAL   Rheumatology (Oxford) 48 (10), 1202-1207 (2009)
   PUBMED   19643727
REFERENCE   6  (residues 1 to 201)
  AUTHORS   Banga S, Gao P, Shen X, Fiscus V, Zong WX, Chen L and Luo ZQ.
  TITLE     Legionella pneumophila inhibits macrophage apoptosis by targeting
            pro-death members of the Bcl2 protein family
  JOURNAL   Proc Natl Acad Sci U S A 104 (12), 5121-5126 (2007)
   PUBMED   17360363
  REMARK    GeneRIF: SidF contributes to apoptosis resistance in L.
            pneumophila-infected cells by specifically interacting with and
            neutralizing the effects of BNIP3 and Bcl-rambo, two proapoptotic
            members of Bcl2 protein family.
REFERENCE   7  (residues 1 to 201)
  AUTHORS   Holleman A, den Boer ML, de Menezes RX, Cheok MH, Cheng C, Kazemier
            KM, Janka-Schaub GE, Gobel U, Graubner UB, Evans WE and Pieters R.
  TITLE     The expression of 70 apoptosis genes in relation to lineage,
            genetic subtype, cellular drug resistance, and outcome in childhood
            acute lymphoblastic leukemia
  JOURNAL   Blood 107 (2), 769-776 (2006)
   PUBMED   16189266
REFERENCE   8  (residues 1 to 201)
  AUTHORS   Yi P, Zhang W, Zhai Z, Miao L, Wang Y and Wu M.
  TITLE     Bcl-rambo beta, a special splicing variant with an insertion of an
            Alu-like cassette, promotes etoposide- and Taxol-induced cell death
  JOURNAL   FEBS Lett 534 (1-3), 61-68 (2003)
   PUBMED   12527362
  REMARK    GeneRIF: Our data support the speculation that the Alu element
            insertion during the splicing process may play an important role in
            the generation of protein diversity in primate cells by a yet
            uncharacterized mechanism
REFERENCE   9  (residues 1 to 201)
  AUTHORS   Kataoka T, Holler N, Micheau O, Martinon F, Tinel A, Hofmann K and
            Tschopp J.
  TITLE     Bcl-rambo, a novel Bcl-2 homologue that induces apoptosis via its
            unique C-terminal extension
  JOURNAL   J Biol Chem 276 (22), 19548-19554 (2001)
   PUBMED   11262395
REFERENCE   10 (residues 1 to 201)
  AUTHORS   Footz TK, Brinkman-Mills P, Banting GS, Maier SA, Riazi MA,
            Bridgland L, Hu S, Birren B, Minoshima S, Shimizu N, Pan H, Nguyen
            T, Fang F, Fu Y, Ray L, Wu H, Shaull S, Phan S, Yao Z, Chen F, Huan
            A, Hu P, Wang Q, Loh P, Qi S, Roe BA and McDermid HE.
  TITLE     Analysis of the cat eye syndrome critical region in humans and the
            region of conserved synteny in mice: a search for candidate genes
            at or near the human chromosome 22 pericentromere
  JOURNAL   Genome Res 11 (6), 1053-1070 (2001)
   PUBMED   11381032
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006285.13.
            On Jun 3, 2018 this sequence version replaced XP_016884222.1.
            
            Summary: This gene encodes a mitochondrially-localized protein with
            conserved B-cell lymphoma 2 homology motifs. Overexpression of the
            encoded protein results in apoptosis. Alternatively spliced
            transcript variants have been observed for this gene. [provided by
            RefSeq, Jul 2012].
            
            Transcript Variant: This variant (14) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (j)
            has a shorter and distinct C-terminus compared to isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.21681.1,
                                           SRR1803615.207698.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..201
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     Protein         1..201
                     /product="bcl-2-like protein 13 isoform j"
                     /note="Bcl-2-like protein 13; BCL2-like 13 (apoptosis
                     facilitator)"
                     /calculated_mol_wt=22481
     Region          14..30
                     /region_name="BH4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXK5.1)"
     Site            38
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BXK5.1)"
     Region          100..116
                     /region_name="BH3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXK5.1)"
     Region          104..200
                     /region_name="Bcl-2"
                     /note="Apoptosis regulator proteins, Bcl-2 family;
                     pfam00452"
                     /db_xref="CDD:425690"
     Site            104..112
                     /site_type="active"
                     /note="BH3 [active]"
                     /db_xref="CDD:132900"
     Site            order(107..108,110..111,115,118..119,134..135,138,140,
                     143..144,151..152,154..155,159,163)
                     /site_type="active"
                     /note="BH3-homology region binding site [active]"
                     /db_xref="CDD:132900"
     Site            order(143..145,150..160)
                     /site_type="active"
                     /note="BH1 [active]"
                     /db_xref="CDD:132900"
     Region          147..157
                     /region_name="BH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXK5.1)"
     CDS             1..201
                     /gene="BCL2L13"
                     /gene_synonym="BCL-RAMBO; Bcl2-L-13; MIL1"
                     /coded_by="NM_001363824.1:354..959"
                     /note="isoform j is encoded by transcript variant 14"
                     /db_xref="CCDS:CCDS86995.1"
                     /db_xref="GeneID:23786"
                     /db_xref="HGNC:HGNC:17164"
                     /db_xref="MIM:619822"
ORIGIN      
        1 massstvplg fhyetkyvvl sylgllsqek lqeqhlsspq gvqldiasqs ldqeillkvk
       61 teieeelksl dkeiseafts tgfdrhtspv fspanpessm edclahlgek vsqelkeplh
      121 kalqmllsqp vtyqafrect lettvhasgw nkilvplvll rqmlleltrr gqeplsallq
      181 fgvtyledys aeyiiqqggw v
//
LOCUS       NP_001354342            1168 aa            linear   PRI 25-DEC-2022
DEFINITION  WASH complex subunit 2C isoform 21 [Homo sapiens].
ACCESSION   NP_001354342 XP_016871512
VERSION     NP_001354342.1
DBSOURCE    REFSEQ: accession NM_001367413.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1168)
  AUTHORS   McNally KE, Faulkner R, Steinberg F, Gallon M, Ghai R, Pim D,
            Langton P, Pearson N, Danson CM, Nagele H, Morris LL, Singla A,
            Overlee BL, Heesom KJ, Sessions R, Banks L, Collins BM, Berger I,
            Billadeau DD, Burstein E and Cullen PJ.
  TITLE     Retriever is a multiprotein complex for retromer-independent
            endosomal cargo recycling
  JOURNAL   Nat Cell Biol 19 (10), 1214-1225 (2017)
   PUBMED   28892079
REFERENCE   2  (residues 1 to 1168)
  AUTHORS   Follett J, Bugarcic A, Yang Z, Ariotti N, Norwood SJ, Collins BM,
            Parton RG and Teasdale RD.
  TITLE     Parkinson Disease-linked Vps35 R524W Mutation Impairs the Endosomal
            Association of Retromer and Induces alpha-Synuclein Aggregation
  JOURNAL   J Biol Chem 291 (35), 18283-18298 (2016)
   PUBMED   27385586
REFERENCE   3  (residues 1 to 1168)
  AUTHORS   Deng ZH, Gomez TS, Osborne DG, Phillips-Krawczak CA, Zhang JS and
            Billadeau DD.
  TITLE     Nuclear FAM21 participates in NF-kappaB-dependent gene regulation
            in pancreatic cancer cells
  JOURNAL   J Cell Sci 128 (2), 373-384 (2015)
   PUBMED   25431135
  REMARK    GeneRIF: FAM21 not only functions as an integral component of the
            cytoplasmic WASH complex, but also modulates NF-kappaB gene
            transcription in the nucleus.
REFERENCE   4  (residues 1 to 1168)
  AUTHORS   Phillips-Krawczak CA, Singla A, Starokadomskyy P, Deng Z, Osborne
            DG, Li H, Dick CJ, Gomez TS, Koenecke M, Zhang JS, Dai H,
            Sifuentes-Dominguez LF, Geng LN, Kaufmann SH, Hein MY, Wallis M,
            McGaughran J, Gecz J, Sluis Bv, Billadeau DD and Burstein E.
  TITLE     COMMD1 is linked to the WASH complex and regulates endosomal
            trafficking of the copper transporter ATP7A
  JOURNAL   Mol Biol Cell 26 (1), 91-103 (2015)
   PUBMED   25355947
REFERENCE   5  (residues 1 to 1168)
  AUTHORS   McGough IJ, Steinberg F, Gallon M, Yatsu A, Ohbayashi N, Heesom KJ,
            Fukuda M and Cullen PJ.
  TITLE     Identification of molecular heterogeneity in
            SNX27-retromer-mediated endosome-to-plasma-membrane recycling
  JOURNAL   J Cell Sci 127 (Pt 22), 4940-4953 (2014)
   PUBMED   25278552
REFERENCE   6  (residues 1 to 1168)
  AUTHORS   Hernandez-Valladares M, Kim T, Kannan B, Tung A, Aguda AH, Larsson
            M, Cooper JA and Robinson RC.
  TITLE     Structural characterization of a capping protein interaction motif
            defines a family of actin filament regulators
  JOURNAL   Nat Struct Mol Biol 17 (4), 497-503 (2010)
   PUBMED   20357771
REFERENCE   7  (residues 1 to 1168)
  AUTHORS   Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura
            Y and Kamatani N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   8  (residues 1 to 1168)
  AUTHORS   Derivery E, Sousa C, Gautier JJ, Lombard B, Loew D and Gautreau A.
  TITLE     The Arp2/3 activator WASH controls the fission of endosomes through
            a large multiprotein complex
  JOURNAL   Dev Cell 17 (5), 712-723 (2009)
   PUBMED   19922875
REFERENCE   9  (residues 1 to 1168)
  AUTHORS   Gomez TS and Billadeau DD.
  TITLE     A FAM21-containing WASH complex regulates retromer-dependent
            sorting
  JOURNAL   Dev Cell 17 (5), 699-711 (2009)
   PUBMED   19922874
  REMARK    GeneRIF: WASH exists in a multiprotein complex containing FAM21,
            which links WASH to endosomes and is required for WASH-dependent
            retromer-mediated sorting.
REFERENCE   10 (residues 1 to 1168)
  AUTHORS   Huang CY, Lu TY, Bair CH, Chang YS, Jwo JK and Chang W.
  TITLE     A novel cellular protein, VPEF, facilitates vaccinia virus
            penetration into HeLa cells through fluid phase endocytosis
  JOURNAL   J Virol 82 (16), 7988-7999 (2008)
   PUBMED   18550675
  REMARK    GeneRIF: a cellular factor, VPEF, is exploited by vaccinia virus
            for cell entry through fluid phase endocytosis when vaccinia virus
            enters HeLa cells
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL645998.10, AL731535.6 and AC012044.15.
            On Nov 27, 2018 this sequence version replaced XP_016871512.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.276065.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1168
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     Protein         1..1168
                     /product="WASH complex subunit 2C isoform 21"
                     /note="WASH complex subunit FAM21C; vaccinia virus
                     penetration factor; family with sequence similarity 21
                     member C"
                     /calculated_mol_wt=127150
     Region          <478..705
                     /region_name="PTZ00108"
                     /note="DNA topoisomerase 2-like protein; Provisional"
                     /db_xref="CDD:240271"
     Region          786..907
                     /region_name="CAP-ZIP_m"
                     /note="WASH complex subunit CAP-Z interacting, central
                     region; pfam15255"
                     /db_xref="CDD:434577"
     CDS             1..1168
                     /gene="WASHC2C"
                     /gene_synonym="FAM21A; FAM21C; VPEF"
                     /coded_by="NM_001367413.1:270..3776"
                     /note="isoform 21 is encoded by transcript variant 21"
                     /db_xref="GeneID:253725"
                     /db_xref="HGNC:HGNC:23414"
                     /db_xref="MIM:613631"
ORIGIN      
        1 mlsntqfien rvydeeveep vlkaeaekte qektreqkev dlipkvqeav nyglqvldsa
       61 feqldikagn sdseeddang rvelilepkd lyidrplpyl igsklfmeqe dvglgelsse
      121 egsvgsdrgs ivdteeekee eesdedfahh sdneqnqhtt qmsdeeeddd gcdlfadsek
      181 eeediediee ntrpkrsrpt sfadelaari kgdamgrvde eptneednlf appkltdedf
      241 spfgsggglf sggkglfdde deesdlftea sqdrqagasv keesssskpg kkipagavsv
      301 flgdtdvfga asvpslkepq kpeqptprks pygppptglf ddddgddddd ffsaphskps
      361 ktrkvqstad ifgdeegdlf kekavaspea tvsqtdenka raekkvtlsy sknlkpsset
      421 ktqkglfsde edsedlfssq sasnlkgasl lpgklptsvs lfddedeedn lfggtaakkq
      481 tlslqaqree kakaselskk kasallfssd eedqwnipas qthlasdsrs kgeprdsgtl
      541 qsqeakavkk tslfeedked dlfaiakdsq kktqrvsllf eddvdsggsl fgspptsvpp
      601 atkkketvse appllfsdee ekeaqlgvks vdkkvesake slkfgrtdva esekeglltr
      661 saqetvkhsd lfsssspwdk gtkprtktvl slfdeeedkm edqniiqapq kevgkgcdpd
      721 ahpkstgvfq deellfshkl qkdndpdvdl fagtkktkll epsvgslfgd dedddlfssa
      781 ksqplanlai npaallptaa sqisevkpvl pelafpsseh rrshglesvp vlpgsgeagv
      841 sfdlpaqadt lhsanksrvk mrgkrrpqtr aarrlaaqes seaedmsvpr gpiaqwadga
      901 ispnghrpql raasgedste ealaaaaapw eggpvpgvdt spfakslghs rgeadlfdsg
      961 difstgtgsq svertkpkak iaenpanppv ggkakspmfp algeassddd lfqsakpkpa
     1021 kktnpfplle deddlftdqk vkknetksss qqdvilttqd ifeddifate aikpsqktre
     1081 kektlesnlf ddnidifadl tvkpkekskk kveaksifdd dmddifstgi qakttkpksr
     1141 saqaapeprf ehkvsnifdd plnafggq
//
LOCUS       NP_001295269             126 aa            linear   PRI 26-DEC-2022
DEFINITION  putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol
            alpha-1,2-glucosyltransferase isoform 2 [Homo sapiens].
ACCESSION   NP_001295269 XP_011536250
VERSION     NP_001295269.2
DBSOURCE    REFSEQ: accession NM_001308340.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 126)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 126)
  AUTHORS   Hayashi K, Fujino N, Ino H, Uchiyama K, Sakata K, Konno T, Masuta
            E, Funada A, Sakamoto Y, Tsubokawa T, Hodatsu A, Yasuda T, Kanaya
            H, Kim MY, Kupershmidt S, Higashida H and Yamagishi M.
  TITLE     A KCR1 variant implicated in susceptibility to the long QT syndrome
  JOURNAL   J Mol Cell Cardiol 50 (1), 50-57 (2011)
   PUBMED   20950623
  REMARK    GeneRIF: Findings suggest that KCR1 genetic variations that
            diminish the ability of KCR1 to protect KCNH2 from inhibition by
            commonly used therapeutic agents constitute a risk factor for the
            aLQTS.
REFERENCE   3  (residues 1 to 126)
  AUTHORS   Daly AK, Donaldson PT, Bhatnagar P, Shen Y, Pe'er I, Floratos A,
            Daly MJ, Goldstein DB, John S, Nelson MR, Graham J, Park BK, Dillon
            JF, Bernal W, Cordell HJ, Pirmohamed M, Aithal GP and Day CP.
  CONSRTM   DILIGEN Study; International SAE Consortium
  TITLE     HLA-B*5701 genotype is a major determinant of drug-induced liver
            injury due to flucloxacillin
  JOURNAL   Nat Genet 41 (7), 816-819 (2009)
   PUBMED   19483685
REFERENCE   4  (residues 1 to 126)
  AUTHORS   Petersen CI, McFarland TR, Stepanovic SZ, Yang P, Reiner DJ,
            Hayashi K, George AL, Roden DM, Thomas JH and Balser JR.
  TITLE     In vivo identification of genes that modify ether-a-go-go-related
            gene activity in Caenorhabditis elegans may also affect human
            cardiac arrhythmia
  JOURNAL   Proc Natl Acad Sci U S A 101 (32), 11773-11778 (2004)
   PUBMED   15280551
REFERENCE   5  (residues 1 to 126)
  AUTHORS   Kupershmidt S, Yang IC, Hayashi K, Wei J, Chanthaphaychith S,
            Petersen CI, Johns DC, George AL Jr, Roden DM and Balser JR.
  TITLE     The IKr drug response is modulated by KCR1 in transfected cardiac
            and noncardiac cell lines
  JOURNAL   FASEB J 17 (15), 2263-2265 (2003)
   PUBMED   14525949
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC117372.2.
            On May 31, 2019 this sequence version replaced NP_001295269.1.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in its 3' coding region, which results in a frameshift, compared to
            variant 1. It encodes isoform 2, which has a shorter and distinct
            C-terminus, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.78151.1, AL712776.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..126
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
     Protein         1..126
                     /product="putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol
                     alpha-1,2-glucosyltransferase isoform 2"
                     /EC_number="2.4.1.256"
                     /note="modifier of the HERG potassium channel; putative
                     alpha-1,2-glucosyltransferase ALG10-B; asparagine-linked
                     glycosylation 10 homolog B (yeast,
                     alpha-1,2-glucosyltransferase); potassium channel
                     regulator 1; alpha-2-glucosyltransferase ALG10-B;
                     asparagine-linked glycosylation protein 10 homolog B;
                     alpha-1,2-glucosyltransferase ALG10-A; putative
                     Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol
                     alpha-1,2-glucosyltransferase; asparagine-linked
                     glycosylation 10, alpha-1,2-glucosyltransferase homolog B;
                     dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol
                     alpha-1,2- glucosyltransferase; ALG10B,
                     alpha-1,2-glucosyltransferase"
                     /calculated_mol_wt=14445
     Site            7..27
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I7T1.2)"
     Region          32..>123
                     /region_name="DIE2_ALG10"
                     /note="DIE2/ALG10 family; pfam04922"
                     /db_xref="CDD:428197"
     Site            65..85
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I7T1.2)"
     Site            98..118
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I7T1.2)"
     CDS             1..126
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /coded_by="NM_001308340.2:121..501"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS76548.1"
                     /db_xref="GeneID:144245"
                     /db_xref="HGNC:HGNC:31088"
                     /db_xref="MIM:603313"
ORIGIN      
        1 maqlegycfs aalsctflvs cllfsafsra lrepymdeif hlpqaqryce ghfslsqwdp
       61 mittlpglyl vsvgvvkpai wifawsehvv csigmlrfvn llfsvgnfyl lyllfhkvqp
      121 rnkeyf
//
LOCUS       NP_115723                275 aa            linear   PRI 26-DEC-2022
DEFINITION  zinc finger protein 397 isoform 2 [Homo sapiens].
ACCESSION   NP_115723
VERSION     NP_115723.1
DBSOURCE    REFSEQ: accession NM_032347.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 275)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 275)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (residues 1 to 275)
  AUTHORS   Ravasi T, Suzuki H, Cannistraci CV, Katayama S, Bajic VB, Tan K,
            Akalin A, Schmeier S, Kanamori-Katayama M, Bertin N, Carninci P,
            Daub CO, Forrest AR, Gough J, Grimmond S, Han JH, Hashimoto T, Hide
            W, Hofmann O, Kamburov A, Kaur M, Kawaji H, Kubosaki A, Lassmann T,
            van Nimwegen E, MacPherson CR, Ogawa C, Radovanovic A, Schwartz A,
            Teasdale RD, Tegner J, Lenhard B, Teichmann SA, Arakawa T, Ninomiya
            N, Murakami K, Tagami M, Fukuda S, Imamura K, Kai C, Ishihara R,
            Kitazume Y, Kawai J, Hume DA, Ideker T and Hayashizaki Y.
  TITLE     An atlas of combinatorial transcriptional regulation in mouse and
            man
  JOURNAL   Cell 140 (5), 744-752 (2010)
   PUBMED   20211142
  REMARK    Erratum:[Cell. 2010 Apr 16;141(2):369. Kamburov, Atanas [added];
            Kaur, Mandeep [added]; MacPherson, Cameron Ross [added];
            Radovanovic, Aleksandar [added]; Schwartz, Ariel [added]]
REFERENCE   4  (residues 1 to 275)
  AUTHORS   Bailey SL, Chang SC, Griffiths B, Graham AN, Saffery R, Earle E,
            Choo KH and Kalitsis P.
  TITLE     ZNF397, a new class of interphase to early prophase-specific,
            SCAN-zinc-finger, mammalian centromere protein
  JOURNAL   Chromosoma 117 (4), 367-380 (2008)
   PUBMED   18369653
  REMARK    GeneRIF: ZNF397, a new class of interphase to early
            prophase-specific, SCAN-zinc-finger, mammalian centromere protein.
REFERENCE   5  (residues 1 to 275)
  AUTHORS   Wu Y, Yu L, Bi G, Luo K, Zhou G and Zhao S.
  TITLE     Identification and characterization of two novel human SCAN
            domain-containing zinc finger genes ZNF396 and ZNF397
  JOURNAL   Gene 310, 193-201 (2003)
   PUBMED   12801647
REFERENCE   6  (residues 1 to 275)
  AUTHORS   Lichter P, Bray P, Ried T, Dawid IB and Ward DC.
  TITLE     Clustering of C2-H2 zinc finger motif sequences within telomeric
            and fragile site regions of human chromosomes
  JOURNAL   Genomics 13 (4), 999-1007 (1992)
   PUBMED   1505991
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI772202.1, BC006172.1,
            AA805259.1 and AC011815.7.
            
            Summary: This gene encodes a protein with a N-terminal SCAN domain,
            and the longer isoform contains nine C2H2-type zinc finger repeats
            in the C-terminal domain. The protein localizes to centromeres
            during interphase and early prophase, and different isoforms can
            repress or activate transcription in transfection studies. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. Additional variants have been described, but their
            biological validity has not been determined. [provided by RefSeq,
            Oct 2009].
            
            Transcript Variant: This variant (2) has an alternate 3' CDS and 3'
            UTR, as compared to variant 1. The resulting isoform (2) has a
            shorter and distinct C-terminus that lacks the zinc finger domains,
            as compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC006172.1, SRR3476690.919252.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..275
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.2"
     Protein         1..275
                     /product="zinc finger protein 397 isoform 2"
                     /note="zinc finger protein 47; zinc finger and SCAN
                     domain-containing protein 15"
                     /calculated_mol_wt=30921
     Site            31
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NF99.2)"
     Region          46..152
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     CDS             1..275
                     /gene="ZNF397"
                     /gene_synonym="ZNF47; ZSCAN15"
                     /coded_by="NM_032347.3:157..984"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS32814.1"
                     /db_xref="GeneID:84307"
                     /db_xref="HGNC:HGNC:18818"
                     /db_xref="MIM:609601"
ORIGIN      
        1 mavesgvist lipqdppeqe lilvkvednf swdekfkqng stqscqelfr qqfrkfcyqe
       61 tpgprealsr lqelcyqwlm pelhtkeqil ellvleqfls ilpeelqiwv qqhnpesgee
      121 avtlledler efddpgqqvp aspqgpavpw kdltclrasq estdihlqpl ktqlkswkpc
      181 lspksdcens etatkegise eksqglpqep sfrgiklsrp pkassairwe cvspgsfpgd
      241 iiaaeathst iscfaintlp atilpsknvn rkyfs
//
LOCUS       NP_001356678             200 aa            linear   PRI 26-DEC-2022
DEFINITION  integrin beta-1-binding protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001356678 XP_016860757
VERSION     NP_001356678.1
DBSOURCE    REFSEQ: accession NM_001369749.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 200)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 200)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 200)
  AUTHORS   Su VL, Simon B, Draheim KM and Calderwood DA.
  TITLE     Serine phosphorylation of the small phosphoprotein ICAP1 inhibits
            its nuclear accumulation
  JOURNAL   J Biol Chem 295 (10), 3269-3284 (2020)
   PUBMED   32005669
  REMARK    GeneRIF: Serine phosphorylation of the small phosphoprotein ICAP1
            inhibits its nuclear accumulation.
REFERENCE   4  (residues 1 to 200)
  AUTHORS   Draheim KM, Huet-Calderwood C, Simon B and Calderwood DA.
  TITLE     Nuclear Localization of Integrin Cytoplasmic Domain-associated
            Protein-1 (ICAP1) Influences beta1 Integrin Activation and Recruits
            Krev/Interaction Trapped-1 (KRIT1) to the Nucleus
  JOURNAL   J Biol Chem 292 (5), 1884-1898 (2017)
   PUBMED   28003363
  REMARK    GeneRIF: nuclear-cytoplasmic shuttling of ICAP1 influences both
            integrin activation and KRIT1 localization, presumably impacting
            nuclear functions of KRIT1.
REFERENCE   5  (residues 1 to 200)
  AUTHORS   Bouin AP, Kyumurkov A, Regent-Kloeckner M, Ribba AS, Faurobert E,
            Fournier HN, Bourrin-Reynard I, Manet-Dupe S, Oddou C, Balland M,
            Planus E and Albiges-Rizo C.
  TITLE     ICAP-1 monoubiquitylation coordinates matrix density and rigidity
            sensing for cell migration through ROCK2-MRCKalpha balance
  JOURNAL   J Cell Sci 130 (3), 626-636 (2017)
   PUBMED   28049720
  REMARK    GeneRIF: ICAP-1 monoubiquitylation helps in switching from
            ROCK2-mediated to MRCKalpha-mediated cell contractility.
            Erratum:[J Cell Sci. 2017 Mar 15;130(6):1195. PMID: 28298614]
REFERENCE   6  (residues 1 to 200)
  AUTHORS   Chang DD, Hoang BQ, Liu J and Springer TA.
  TITLE     Molecular basis for interaction between Icap1 alpha PTB domain and
            beta 1 integrin
  JOURNAL   J Biol Chem 277 (10), 8140-8145 (2002)
   PUBMED   11741908
  REMARK    GeneRIF: Site-directed mutagenesis showed that Leu(135), Ile(138),
            and Ile(139) of Icap1 alpha, and Leu(82) and Tyr(144), are required
            for the Icap1 alpha-beta(1) integrin interaction
REFERENCE   7  (residues 1 to 200)
  AUTHORS   Zhang J, Clatterbuck RE, Rigamonti D, Chang DD and Dietz HC.
  TITLE     Interaction between krit1 and icap1alpha infers perturbation of
            integrin beta1-mediated angiogenesis in the pathogenesis of
            cerebral cavernous malformation
  JOURNAL   Hum Mol Genet 10 (25), 2953-2960 (2001)
   PUBMED   11741838
REFERENCE   8  (residues 1 to 200)
  AUTHORS   Gotthardt M, Trommsdorff M, Nevitt MF, Shelton J, Richardson JA,
            Stockinger W, Nimpf J and Herz J.
  TITLE     Interactions of the low density lipoprotein receptor gene family
            with cytosolic adaptor and scaffold proteins suggest diverse
            biological functions in cellular communication and signal
            transduction
  JOURNAL   J Biol Chem 275 (33), 25616-25624 (2000)
   PUBMED   10827173
REFERENCE   9  (residues 1 to 200)
  AUTHORS   Bouvard D and Block MR.
  TITLE     Calcium/calmodulin-dependent protein kinase II controls integrin
            alpha5beta1-mediated cell adhesion through the integrin cytoplasmic
            domain associated protein-1alpha
  JOURNAL   Biochem Biophys Res Commun 252 (1), 46-50 (1998)
   PUBMED   9813144
REFERENCE   10 (residues 1 to 200)
  AUTHORS   Chang DD, Wong C, Smith H and Liu J.
  TITLE     ICAP-1, a novel beta1 integrin cytoplasmic domain-associated
            protein, binds to a conserved and functionally important NPXY
            sequence motif of beta1 integrin
  JOURNAL   J Cell Biol 138 (5), 1149-1157 (1997)
   PUBMED   9281591
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC080162.7.
            On Apr 17, 2019 this sequence version replaced XP_016860757.1.
            
            Summary: The cytoplasmic domains of integrins are essential for
            cell adhesion. The protein encoded by this gene binds to the beta1
            integrin cytoplasmic domain. The interaction between this protein
            and beta1 integrin is highly specific. Two isoforms of this protein
            are derived from alternatively spliced transcripts. The shorter
            form of this protein does not interact with the beta1 integrin
            cytoplasmic domain. The longer form is a phosphoprotein and the
            extent of its phosphorylation is regulated by the cell-matrix
            interaction, suggesting an important role of this protein during
            integrin-dependent cell adhesion. Several transcript variants, some
            protein-coding and some non-protein coding, have been found for
            this gene. [provided by RefSeq, Jan 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.127154.1,
                                           SRR1163655.614254.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..200
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.1"
     Protein         1..200
                     /product="integrin beta-1-binding protein 1 isoform 1"
                     /note="integrin cytoplasmic domain-associated protein
                     1-beta; integrin cytoplasmic domain-associated protein
                     1-alpha; bodenin; integrin beta-1-binding protein 1"
                     /calculated_mol_wt=21651
     Region          1..200
                     /region_name="ICAP-1_inte_bdg"
                     /note="Beta-1 integrin binding protein; pfam10480"
                     /db_xref="CDD:119000"
     Region          1..56
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14713.1)"
     Region          6..7
                     /region_name="Nuclear localization signal"
                     /note="propagated from UniProtKB/Swiss-Prot (O14713.1)"
     Site            38
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CaMK2.
                     /evidence=ECO:0000269|PubMed:9813144; propagated from
                     UniProtKB/Swiss-Prot (O14713.1)"
     Site            41
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35671; propagated from
                     UniProtKB/Swiss-Prot (O14713.1)"
     Site            order(66,153,173)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269985"
     Region          136..139
                     /region_name="Interaction with KRIT1"
                     /note="propagated from UniProtKB/Swiss-Prot (O14713.1)"
     Site            order(139..144,160,184,188)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269985"
     Region          139..141
                     /region_name="Interaction with ITGB1"
                     /note="propagated from UniProtKB/Swiss-Prot (O14713.1)"
     CDS             1..200
                     /gene="ITGB1BP1"
                     /gene_synonym="ICAP-1A; ICAP-1alpha; ICAP-1B; ICAP1;
                     ICAP1A; ICAP1B"
                     /coded_by="NM_001369749.2:398..1000"
                     /note="isoform 1 is encoded by transcript variant 20"
                     /db_xref="CCDS:CCDS1662.1"
                     /db_xref="GeneID:9270"
                     /db_xref="HGNC:HGNC:23927"
                     /db_xref="MIM:607153"
ORIGIN      
        1 mfrkgkkrhs ssssqsseis tksksvdssl gglsrsstva sldtdstkss gqsnnnsdtc
       61 aefrikyvga ieklklsegk glegpldlin yidvaqqdgk lpfvppeeef imgvskygik
      121 vstsdqydvl hrhalyliir mvcyddglga gksllalktt dasneeyslw vyqcnsleqa
      181 qaickvlsta fdsvltsekp
//
LOCUS       NP_001337493             557 aa            linear   PRI 27-DEC-2022
DEFINITION  tight junction-associated protein 1 isoform a [Homo sapiens].
ACCESSION   NP_001337493 XP_006715322
VERSION     NP_001337493.1
DBSOURCE    REFSEQ: accession NM_001350564.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 557)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 557)
  AUTHORS   Deng X, Sabino EC, Cunha-Neto E, Ribeiro AL, Ianni B, Mady C, Busch
            MP and Seielstad M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 557)
  AUTHORS   Kawabe H, Nakanishi H, Asada M, Fukuhara A, Morimoto K, Takeuchi M
            and Takai Y.
  TITLE     Pilt, a novel peripheral membrane protein at tight junctions in
            epithelial cells
  JOURNAL   J Biol Chem 276 (51), 48350-48355 (2001)
   PUBMED   11602598
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359813.23 and AL355802.13.
            On Apr 20, 2017 this sequence version replaced XP_006715322.1.
            
            Summary: This gene encodes a tight junction-associated protein.
            Incorporation of the encoded protein into tight junctions occurs at
            a late stage of formation of the junctions. The encoded protein
            localizes to the Golgi and may function in vesicle trafficking.
            Alternatively spliced transcript variants have been described. A
            related pseudogene exists on the X chromosome. [provided by RefSeq,
            Mar 2009].
            
            Transcript Variant: This variant (11), as well as variants 1, 2,
            8-10, and 12-15, encodes isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR4368410.460198.1,
                                           SRR14038195.1835226.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..557
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     Protein         1..557
                     /product="tight junction-associated protein 1 isoform a"
                     /note="protein incorporated later into tight junctions;
                     tight junction protein 4 (peripheral); tight junction
                     associated protein 1 (peripheral)"
                     /calculated_mol_wt=61690
     Region          1..37
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylthreonine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Region          <17..>163
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          266..303
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Region          284..556
                     /region_name="Pilt"
                     /note="Protein incorporated later into Tight Junctions;
                     pfam15453"
                     /db_xref="CDD:434728"
     Site            300
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Region          309..328
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Site            318
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Site            320
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Site            345
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Region          364..409
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Site            422
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Region          439..557
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Site            491
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Site            545
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     CDS             1..557
                     /gene="TJAP1"
                     /gene_synonym="PILT; TJP4"
                     /coded_by="NM_001350564.2:184..1857"
                     /note="isoform a is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS55004.1"
                     /db_xref="GeneID:93643"
                     /db_xref="HGNC:HGNC:17949"
                     /db_xref="MIM:612658"
ORIGIN      
        1 mtsaapakkp yrkappehre lrleipgsrl eqeepltdae rmkllqeene elrrrlasat
       61 rrtealerel eigqdclele lgqsreeldk fkdkfrrlqn sytasqrtnq eledklhtla
      121 slshswifai kkaemdrktl dweiveltnk lldakntink leelneryrl dcnlavqllk
      181 cnkshfrnhk fadlpcelqd mvrkhlhsgq eaaspgpaps lapgavvpts viarvlekpe
      241 slllnsaqsg sagrplaedv fvhvdmsegv pgdpasppap gsptpqpnge chslgtargs
      301 peeelplpaf eklnpyptps pphplypgrr viefsedkvr iprnsplpnc tyatrqaisl
      361 slveegsera rpspvpstpa saqasphhqp spapltlsap assasseedl lvswqrafvd
      421 rtpppaavaq rtafgrdalp elqrhfahsp adrdevvqap sarpeesell lptepdsgfp
      481 reeeelnlpi speeerqsll pinrgteegp gtshtegraw plpsssrpqr spkrmgvhhl
      541 hrkdsltqaq eqgnlln
//
LOCUS       NP_001369670             589 aa            linear   PRI 28-DEC-2022
DEFINITION  fibrosin-1-like protein isoform 5 [Homo sapiens].
ACCESSION   NP_001369670 XP_005266238
VERSION     NP_001369670.1
DBSOURCE    REFSEQ: accession NM_001382741.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 589)
  AUTHORS   Zheng R, Qiao S, Chen Y, Jin C, Fang Y, Lin Z, Xue N, Yan Y, Gu L,
            Gao T, Tian J, Yan Y, Yin X, Pu J and Zhang B.
  TITLE     Association analysis and polygenic risk score evaluation of 38
            GWAS-identified Loci in a Chinese population with Parkinson's
            disease
  JOURNAL   Neurosci Lett 762, 136150 (2021)
   PUBMED   34352340
  REMARK    GeneRIF: Association analysis and polygenic risk score evaluation
            of 38 GWAS-identified Loci in a Chinese population with Parkinson's
            disease.
REFERENCE   2  (residues 1 to 589)
  AUTHORS   Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J,
            Noble JA, Taylor KE, Quach DL, Chung SA, Kelly JA, Moser KL,
            Behrens TW, Seldin MF, Thomson G, Harley JB, Gaffney PM and
            Criswell LA.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet 5 (10), e1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC079031.39.
            On May 20, 2020 this sequence version replaced XP_005266238.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.1164501.1,
                                           SRR18074967.1399253.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
                                   variant(s)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..589
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     Protein         1..589
                     /product="fibrosin-1-like protein isoform 5"
                     /note="fibrosin-1-like protein; HBV X-transactivated gene
                     9 protein; AUTS2-like protein; HBV XAg-transactivated
                     protein 9"
                     /calculated_mol_wt=65783
     Region          <444..>511
                     /region_name="PRK10263"
                     /note="DNA translocase FtsK; Provisional"
                     /db_xref="CDD:236669"
     CDS             1..589
                     /gene="FBRSL1"
                     /coded_by="NM_001382741.1:421..2190"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:57666"
                     /db_xref="HGNC:HGNC:29308"
                     /db_xref="MIM:620123"
ORIGIN      
        1 meakvrpsrr sraqrdrgrr reaardaraq spssgdepep spgkenaglr gapprgaapa
       61 prtarpprrr rresssqeee vidgfaiasf stlealekdm alkpherkek werrlikkpr
      121 esetcppaep senrrpleag spgqdlepac dgarkvplqp skqvcspegg plpashwdqn
      181 gpaqrqqqlq psqssqpqgs lpapsalpdp gqpcqpsqrp llgqrswpqr sllglkqpcq
      241 prrsllgpgq pcrpqrllps pdqlcqpqrs rpaqpcrphw alpgprqccr rlrslltpch
      301 hcrrlrslla prsllvpcly crrlrfllap rhrcrrlrsl ltlwhrcrpl rpwaspchcg
      361 qpgrassgqr srplwsllaq cqryqpprpl ltlrprrrpa sflpgqcccp rraflapcqy
      421 gqprrsllgq psrprrsllr prqpqrlvea peqpgpltps llgpgrprqq kqplmgpeqp
      481 cppkrplmgp eqpcqplrpl mgpnkpckpq pllpipdrps llgqpgppcr pllgllcqpr
      541 rslldlvpar qprlsllalg hpcrplrsrw trscapgmar qapsvspga
//
LOCUS       NP_001345612             114 aa            linear   PRI 29-DEC-2022
DEFINITION  putative ANKRD40 C-terminal-like protein isoform 2 [Homo sapiens].
ACCESSION   NP_001345612
VERSION     NP_001345612.1
DBSOURCE    REFSEQ: accession NM_001358683.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 114)
  AUTHORS   Qiao YS, Zhou JH, Jin BH, Wu YQ and Zhao B.
  TITLE     LINC00483 is regulated by IGF2BP1 and participates in the
            progression of breast cancer
  JOURNAL   Eur Rev Med Pharmacol Sci 25 (3), 1379-1386 (2021)
   PUBMED   33629308
  REMARK    GeneRIF: LINC00483 is regulated by IGF2BP1 and participates in the
            progression of breast cancer.
REFERENCE   2  (residues 1 to 114)
  AUTHORS   Hu P, Zhou G, Zhang X, Song G, Zhan L and Cao Y.
  TITLE     Long non-coding RNA Linc00483 accelerated tumorigenesis of cervical
            cancer by regulating miR-508-3p/RGS17 axis
  JOURNAL   Life Sci 234, 116789 (2019)
   PUBMED   31454494
  REMARK    GeneRIF: Knock-down of Long non-coding RNA Linc00483 inhibited the
            development of cervical cancer by regulating miR-508-3p/RGS17 axis.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK310037.1, BP382918.1, AK000701.1 and AC005921.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BP382918.1, SRR14243140.7988220.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153733 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000450727.6/ ENSP00000494384.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..114
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     Protein         1..114
                     /product="putative ANKRD40 C-terminal-like protein isoform
                     2"
                     /note="long intergenic non-protein coding RNA 483;
                     putative ANKRD40 C-terminal-like protein"
                     /calculated_mol_wt=13266
     CDS             1..114
                     /gene="ANKRD40CL"
                     /gene_synonym="C17orf73; LINC00483"
                     /coded_by="NM_001358683.3:155..499"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS86616.1"
                     /db_xref="GeneID:55018"
                     /db_xref="HGNC:HGNC:26080"
ORIGIN      
        1 maepeqdige kpavriqnpk endfieielk rqelsyqnll nvsccelgik pervekirkl
       61 pntllrkdkd irrlrdfqev elilmkngss rlteyvpslt erpcydskaa kmty
//
LOCUS       NP_001269309             130 aa            linear   PRI 29-DEC-2022
DEFINITION  arpin isoform 2 [Homo sapiens].
ACCESSION   NP_001269309
VERSION     NP_001269309.1
DBSOURCE    REFSEQ: accession NM_001282380.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 130)
  AUTHORS   Simanov G, Dang I, Fokin AI, Oguievetskaia K, Campanacci V,
            Cherfils J and Gautreau AM.
  TITLE     Arpin Regulates Migration Persistence by Interacting with Both
            Tankyrases and the Arp2/3 Complex
  JOURNAL   Int J Mol Sci 22 (8), 4115 (2021)
   PUBMED   33923443
  REMARK    GeneRIF: Arpin Regulates Migration Persistence by Interacting with
            Both Tankyrases and the Arp2/3 Complex.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 130)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 130)
  AUTHORS   Jubrail J, Africano-Gomez K, Herit F, Mularski A, Bourdoncle P,
            Oberg L, Israelsson E, Burgel PR, Mayer G, Cunoosamy DM, Kurian N
            and Niedergang F.
  TITLE     Arpin is critical for phagocytosis in macrophages and is targeted
            by human rhinovirus
  JOURNAL   EMBO Rep 21 (1), e47963 (2020)
   PUBMED   31721415
  REMARK    GeneRIF: Arpin is critical for phagocytosis in macrophages and is
            targeted by human rhinovirus.
REFERENCE   4  (residues 1 to 130)
  AUTHORS   Li Y, Qiu J, Pang T, Guo Z, Su Y, Zeng Q and Zhang X.
  TITLE     Restoration of Arpin suppresses aggressive phenotype of breast
            cancer cells
  JOURNAL   Biomed Pharmacother 92, 116-121 (2017)
   PUBMED   28531800
  REMARK    GeneRIF: ARPIN is down-regulated in breast cancer cells and
            predicts poor prognosis in breast cancer patients. Data suggest
            that restoration of ARPIN in breast cancer cells suppresses cell
            proliferation, colony formation, cell cycle distribution, invasion
            in vitro, and tumorigenesis in vivo (xenograft experiments in nude
            mice); Arpin acts as tumor suppressor in breast cancer and is
            associated with inhibition of Akt signaling.
REFERENCE   5  (residues 1 to 130)
  AUTHORS   Li T, Zheng HM, Deng NM, Jiang YJ, Wang J and Zhang DL.
  TITLE     Clinicopathological and prognostic significance of aberrant Arpin
            expression in gastric cancer
  JOURNAL   World J Gastroenterol 23 (8), 1450-1457 (2017)
   PUBMED   28293092
  REMARK    GeneRIF: Low Arpin levels are associated with clinicopathological
            variables and a poor prognosis in gastric cancer patients
REFERENCE   6  (residues 1 to 130)
  AUTHORS   Liu X, Zhao B, Wang H, Wang Y, Niu M, Sun M, Zhao Y, Yao R and Qu
            Z.
  TITLE     Aberrant expression of Arpin in human breast cancer and its
            clinical significance
  JOURNAL   J Cell Mol Med 20 (3), 450-458 (2016)
   PUBMED   26648569
  REMARK    GeneRIF: Arpin downregulation may contribute to the initiation and
            development of breast cancer metastasis.
REFERENCE   7  (residues 1 to 130)
  AUTHORS   Fetics S, Thureau A, Campanacci V, Aumont-Nicaise M, Dang I,
            Gautreau A, Perez J and Cherfils J.
  TITLE     Hybrid Structural Analysis of the Arp2/3 Regulator Arpin Identifies
            Its Acidic Tail as a Primary Binding Epitope
  JOURNAL   Structure 24 (2), 252-260 (2016)
   PUBMED   26774128
  REMARK    GeneRIF: Data reveal that Arpin is comprised of an elongated
            globular core from which the C-terminal tail extends as a linear
            peptide, thus forming a primary epitope that is readily available
            to tether Arpin to interacting proteins.
REFERENCE   8  (residues 1 to 130)
  AUTHORS   Deng WS, Zhang J, Ju H, Zheng HM, Wang J, Wang S and Zhang DL.
  TITLE     Arpin contributes to bacterial translocation and development of
            severe acute pancreatitis
  JOURNAL   World J Gastroenterol 21 (14), 4293-4301 (2015)
   PUBMED   25892881
  REMARK    GeneRIF: Arpin protein affects the expression of tight junction
            proteins and may have an impact on bacterial translocation in
            severe acute pancreatitis.
REFERENCE   9  (residues 1 to 130)
  AUTHORS   Dang I, Gorelik R, Sousa-Blin C, Derivery E, Guerin C, Linkner J,
            Nemethova M, Dumortier JG, Giger FA, Chipysheva TA, Ermilova VD,
            Vacher S, Campanacci V, Herrada I, Planson AG, Fetics S, Henriot V,
            David V, Oguievetskaia K, Lakisic G, Pierre F, Steffen A, Boyreau
            A, Peyrieras N, Rottner K, Zinn-Justin S, Cherfils J, Bieche I,
            Alexandrova AY, David NB, Small JV, Faix J, Blanchoin L and
            Gautreau A.
  TITLE     Inhibitory signalling to the Arp2/3 complex steers cell migration
  JOURNAL   Nature 503 (7475), 281-284 (2013)
   PUBMED   24132237
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK093274.1, AC027176.23, BC053602.1, AK055252.1 and BM023230.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream in-frame start codon, compared to variant 1. The encoded
            isoform (2) has a shorter N-terminus, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK093274.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..130
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     Protein         1..130
                     /product="arpin isoform 2"
                     /note="UPF0552 protein C15orf38; arp2/3 inhibition
                     protein"
                     /calculated_mol_wt=13923
     Region          <1..128
                     /region_name="UPF0552"
                     /note="Uncharacterized protein family UPF0552; pfam10574"
                     /db_xref="CDD:431366"
     CDS             1..130
                     /gene="ARPIN"
                     /gene_synonym="C15orf38"
                     /coded_by="NM_001282380.2:833..1225"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS73780.1"
                     /db_xref="GeneID:348110"
                     /db_xref="HGNC:HGNC:28782"
                     /db_xref="MIM:615543"
ORIGIN      
        1 mssykveakg dtdrltpeal kglvnkpell altesltpdh tvafwmpese mevmelelga
       61 gvrlktrgdg pfldslakle agtvtkcnft gdgktgaswt dnimaqkcsk gaaaeireqg
      121 dgaedeewdd
//
LOCUS       NP_001238813             409 aa            linear   PRI 29-DEC-2022
DEFINITION  vasoactive intestinal polypeptide receptor 1 isoform 4 [Homo
            sapiens].
ACCESSION   NP_001238813
VERSION     NP_001238813.1
DBSOURCE    REFSEQ: accession NM_001251884.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 409)
  AUTHORS   Tasma Z, Siow A, Harris PWR, Brimble MA, O'Carroll SJ, Hay DL and
            Walker CS.
  TITLE     PAC1, VPAC1, and VPAC2 Receptor Expression in Rat and Human
            Trigeminal Ganglia: Characterization of PACAP-Responsive Receptor
            Antibodies
  JOURNAL   Int J Mol Sci 23 (22), 13797 (2022)
   PUBMED   36430275
  REMARK    GeneRIF: PAC1, VPAC1, and VPAC2 Receptor Expression in Rat and
            Human Trigeminal Ganglia: Characterization of PACAP-Responsive
            Receptor Antibodies.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 409)
  AUTHORS   Ning S, He C, Guo Z, Zhang H and Mo Z.
  TITLE     [VIPR1 promoter methylation promotes transcription factor AP-2alpha
            binding to inhibit VIPR1 expression and promote hepatocellular
            carcinoma cell growth in vitro]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 42 (7), 957-965 (2022)
   PUBMED   35869757
  REMARK    GeneRIF: [VIPR1 promoter methylation promotes transcription factor
            AP-2alpha binding to inhibit VIPR1 expression and promote
            hepatocellular carcinoma cell growth in vitro].
REFERENCE   3  (residues 1 to 409)
  AUTHORS   Fu Y, Liu S, Rodrigues RM, Han Y, Guo C, Zhu Z, He Y, Mackowiak B,
            Feng D, Gao B, Zeng S and Shen H.
  TITLE     Activation of VIPR1 suppresses hepatocellular carcinoma progression
            by regulating arginine and pyrimidine metabolism
  JOURNAL   Int J Biol Sci 18 (11), 4341-4356 (2022)
   PUBMED   35864952
  REMARK    GeneRIF: Activation of VIPR1 suppresses hepatocellular carcinoma
            progression by regulating arginine and pyrimidine metabolism.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 409)
  AUTHORS   Duan J, Shen DD, Zhou XE, Bi P, Liu QF, Tan YX, Zhuang YW, Zhang
            HB, Xu PY, Huang SJ, Ma SS, He XH, Melcher K, Zhang Y, Xu HE and
            Jiang Y.
  TITLE     Cryo-EM structure of an activated VIP1 receptor-G protein complex
            revealed by a NanoBiT tethering strategy
  JOURNAL   Nat Commun 11 (1), 4121 (2020)
   PUBMED   32807782
  REMARK    GeneRIF: Cryo-EM structure of an activated VIP1 receptor-G protein
            complex revealed by a NanoBiT tethering strategy.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 409)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 409)
  AUTHORS   Sreedharan SP, Huang JX, Cheung MC and Goetzl EJ.
  TITLE     Structure, expression, and chromosomal localization of the type I
            human vasoactive intestinal peptide receptor gene
  JOURNAL   Proc Natl Acad Sci U S A 92 (7), 2939-2943 (1995)
   PUBMED   7708752
REFERENCE   7  (residues 1 to 409)
  AUTHORS   Couvineau A, Gaudin P, Maoret JJ, Rouyer-Fessard C, Nicole P and
            Laburthe M.
  TITLE     Highly conserved aspartate 68, tryptophane 73 and glycine 109 in
            the N-terminal extracellular domain of the human VIP receptor are
            essential for its ability to bind VIP
  JOURNAL   Biochem Biophys Res Commun 206 (1), 246-252 (1995)
   PUBMED   7818527
REFERENCE   8  (residues 1 to 409)
  AUTHORS   Couvineau A, Rouyer-Fessard C, Darmoul D, Maoret JJ, Carrero I,
            Ogier-Denis E and Laburthe M.
  TITLE     Human intestinal VIP receptor: cloning and functional expression of
            two cDNA encoding proteins with different N-terminal domains
  JOURNAL   Biochem Biophys Res Commun 200 (2), 769-776 (1994)
   PUBMED   8179610
REFERENCE   9  (residues 1 to 409)
  AUTHORS   Gagnon AW, Aiyar N and Elshourbagy NA.
  TITLE     Molecular cloning and functional characterization of a human liver
            vasoactive intestinal peptide receptor
  JOURNAL   Cell Signal 6 (3), 321-333 (1994)
   PUBMED   7917790
REFERENCE   10 (residues 1 to 409)
  AUTHORS   .
  TITLE     [Quaternary structure of rabbit skeletal muscle glycogen
            synthetase]
  JOURNAL   Dokl Akad Nauk SSSR 222 (4), 997-1000 (1975)
   PUBMED   807467
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK294609.1, AC092047.3,
            AK298115.1 and BU681817.1.
            
            Summary: This gene encodes a receptor for vasoactive intestinal
            peptide, a small neuropeptide. Vasoactive intestinal peptide is
            involved in smooth muscle relaxation, exocrine and endocrine
            secretion, and water and ion flux in lung and intestinal epithelia.
            Its actions are effected through integral membrane receptors
            associated with a guanine nucleotide binding protein which
            activates adenylate cyclase. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2011].
            
            Transcript Variant: This variant (4) lacks an alternate exon in the
            5' coding region and uses a downstream start codon, compared to
            variant 1. The resulting isoform (4) has a shorter and distinct
            N-terminus compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1535193.1, AK294609.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..409
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.1"
     Protein         1..409
                     /product="vasoactive intestinal polypeptide receptor 1
                     isoform 4"
                     /note="VIP receptor, type I; PACAP type II receptor;
                     pituitary adenylate cyclase activating polypeptide
                     receptor, type II; VIP and PACAP receptor 1; VPAC1
                     receptor; type 1 vasoactive intestinal peptide receptor"
                     /calculated_mol_wt=46137
     Region          14..81
                     /region_name="HormR"
                     /note="Domain present in hormone receptors; smart00008"
                     /db_xref="CDD:214468"
     Region          91..357
                     /region_name="7tm_GPCRs"
                     /note="seven-transmembrane G protein-coupled receptor
                     superfamily; cl28897"
                     /db_xref="CDD:452889"
     Region          94..118
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:410628"
     Region          127..148
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:410628"
     Region          168..190
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:410628"
     Region          209..225
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:410628"
     Region          243..265
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:410628"
     Region          292..314
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:410628"
     Region          319..344
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:410628"
     CDS             1..409
                     /gene="VIPR1"
                     /gene_synonym="HVR1; II; PACAP-R-2; PACAP-R2; RDC1; V1RG;
                     VAPC1; VIP-R-1; VIPR; VIRG; VPAC1; VPAC1R; VPCAP1R"
                     /coded_by="NM_001251884.2:129..1358"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS58827.1"
                     /db_xref="GeneID:7433"
                     /db_xref="HGNC:HGNC:12694"
                     /db_xref="MIM:192321"
ORIGIN      
        1 mragrrprlg pwaggcskmw dnltcwpatp rgqvvvlacp lifklfssiq grnvsrsctd
       61 egwthlepgp ypiacglddk aasldeqtmf ygsvktgyti gyglslatll vatailslfr
      121 klhctrnyih mhlfisfilr aaavfikdla lfdsgesdqc segsvgckaa mvffqycvma
      181 nffwllvegl ylytllavsf fserkyfwgy iligwgvpst ftmvwtiari hfedygcwdt
      241 insslwwiik gpiltsilvn filficiiri llqklrppdi rksdsspysr larstlllip
      301 lfgvhyimfa ffpdnfkpev kmvfelvvgs fqgfvvaily cflngevqae lrrkwrrwhl
      361 qgvlgwnpky rhpsggsnga tcstqvsmlt rvspgarrss sfqaevslv
//
LOCUS       NP_001161836             240 aa            linear   PRI 30-DEC-2022
DEFINITION  keratinocyte-associated protein 3 [Homo sapiens].
ACCESSION   NP_001161836
VERSION     NP_001161836.1
DBSOURCE    REFSEQ: accession NM_001168364.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 240)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 240)
  AUTHORS   Weissglas-Volkov D, Aguilar-Salinas CA, Nikkola E, Deere KA,
            Cruz-Bautista I, Arellano-Campos O, Munoz-Hernandez LL,
            Gomez-Munguia L, Ordonez-Sanchez ML, Reddy PM, Lusis AJ, Matikainen
            N, Taskinen MR, Riba L, Cantor RM, Sinsheimer JS, Tusie-Luna T and
            Pajukanta P.
  TITLE     Genomic study in Mexicans identifies a new locus for triglycerides
            and refines European lipid loci
  JOURNAL   J Med Genet 50 (5), 298-308 (2013)
   PUBMED   23505323
REFERENCE   3  (residues 1 to 240)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   4  (residues 1 to 240)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   5  (residues 1 to 240)
  AUTHORS   Bonkobara M, Das A, Takao J, Cruz PD and Ariizumi K.
  TITLE     Identification of novel genes for secreted and membrane-anchored
            proteins in human keratinocytes
  JOURNAL   Br J Dermatol 148 (4), 654-664 (2003)
   PUBMED   12752121
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC101689.1, BM794111.1, AC074117.7 and CB160871.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 - 3 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1033337.1,
                                           SRR18074967.1463063.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     Protein         1..240
                     /product="keratinocyte-associated protein 3"
                     /note="keratinocytes associated protein 3"
                     /calculated_mol_wt=25496
     Region          19..206
                     /region_name="BCLP"
                     /note="Beta-casein like protein; pfam12304"
                     /db_xref="CDD:432464"
     Site            21..41
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53RY4.1)"
     Site            63..83
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53RY4.1)"
     Site            94..114
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53RY4.1)"
     Site            163..183
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53RY4.1)"
     CDS             1..240
                     /gene="KRTCAP3"
                     /gene_synonym="KCP3"
                     /coded_by="NM_001168364.2:33..755"
                     /db_xref="CCDS:CCDS1754.1"
                     /db_xref="GeneID:200634"
                     /db_xref="HGNC:HGNC:28943"
                     /db_xref="MIM:619261"
ORIGIN      
        1 mrrcslcafd aargprrlmr vglalilvgh vnlllgavlh gtvlrhvanp rgavtpeytv
       61 anvisvgsgl lsvsvglval lasrnllrpp lhwvllalal vnlllsvacs lglllavslt
      121 vanggrrlia dchpglldpl vpldegpght dcpfdptriy dtalalwips llmsageaal
      181 sgyccvaalt lrgvgpcrkd glqgqleemt elespkckrq eneqlldqnq eirasqrswv
//
LOCUS       NP_852106                128 aa            linear   PRI 30-DEC-2022
DEFINITION  39S ribosomal protein L55, mitochondrial isoform a [Homo sapiens].
ACCESSION   NP_852106
VERSION     NP_852106.1
DBSOURCE    REFSEQ: accession NM_181441.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 128)
  AUTHORS   Brown A, Rathore S, Kimanius D, Aibara S, Bai XC, Rorbach J, Amunts
            A and Ramakrishnan V.
  TITLE     Structures of the human mitochondrial ribosome in native states of
            assembly
  JOURNAL   Nat Struct Mol Biol 24 (10), 866-869 (2017)
   PUBMED   28892042
REFERENCE   2  (residues 1 to 128)
  AUTHORS   Greber BJ and Ban N.
  TITLE     Structure and Function of the Mitochondrial Ribosome
  JOURNAL   Annu Rev Biochem 85, 103-132 (2016)
   PUBMED   27023846
  REMARK    Review article
REFERENCE   3  (residues 1 to 128)
  AUTHORS   Brown A, Amunts A, Bai XC, Sugimoto Y, Edwards PC, Murshudov G,
            Scheres SHW and Ramakrishnan V.
  TITLE     Structure of the large ribosomal subunit from human mitochondria
  JOURNAL   Science 346 (6210), 718-722 (2014)
   PUBMED   25278503
REFERENCE   4  (residues 1 to 128)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 128)
  AUTHORS   Tsuritani K, Irie T, Yamashita R, Sakakibara Y, Wakaguri H, Kanai
            A, Mizushima-Sugano J, Sugano S, Nakai K and Suzuki Y.
  TITLE     Distinct class of putative 'non-conserved' promoters in humans:
            comparative studies of alternative promoters of human and mouse
            genes
  JOURNAL   Genome Res 17 (7), 1005-1014 (2007)
   PUBMED   17567985
REFERENCE   6  (residues 1 to 128)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   7  (residues 1 to 128)
  AUTHORS   Zhang Z and Gerstein M.
  TITLE     Identification and characterization of over 100 mitochondrial
            ribosomal protein pseudogenes in the human genome
  JOURNAL   Genomics 81 (5), 468-480 (2003)
   PUBMED   12706105
REFERENCE   8  (residues 1 to 128)
  AUTHORS   O'Brien TW.
  TITLE     Evolution of a protein-rich mitochondrial ribosome: implications
            for human genetic disease
  JOURNAL   Gene 286 (1), 73-79 (2002)
   PUBMED   11943462
REFERENCE   9  (residues 1 to 128)
  AUTHORS   Koc EC, Burkhart W, Blackburn K, Moyer MB, Schlatzer DM, Moseley A
            and Spremulli LL.
  TITLE     The large subunit of the mammalian mitochondrial ribosome. Analysis
            of the complement of ribosomal proteins present
  JOURNAL   J Biol Chem 276 (47), 43958-43969 (2001)
   PUBMED   11551941
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CV572808.1, BP871687.1,
            BM975134.1 and BQ012917.1.
            
            Summary: Mammalian mitochondrial ribosomal proteins are encoded by
            nuclear genes and help in protein synthesis within the
            mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a
            small 28S subunit and a large 39S subunit. They have an estimated
            75% protein to rRNA composition compared to prokaryotic ribosomes,
            where this ratio is reversed. Another difference between mammalian
            mitoribosomes and prokaryotic ribosomes is that the latter contain
            a 5S rRNA. Among different species, the proteins comprising the
            mitoribosome differ greatly in sequence, and sometimes in
            biochemical properties, which prevents easy recognition by sequence
            homology. This gene encodes a 39S subunit protein. Multiple
            transcript variants encoding two different isoforms were identified
            through sequence analysis. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (8) lacks a segment in the 5' UTR
            when compared to variant 5. Variants 1, 2, 3, 5, 6, 7, and 8 encode
            the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: HY123858.1, HY106952.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..128
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.13"
     Protein         1..128
                     /product="39S ribosomal protein L55, mitochondrial isoform
                     a"
                     /note="39S ribosomal protein L55, mitochondrial; L55mt;
                     mitochondrial large ribosomal subunit protein mL55;
                     mitochondrial large ribosomal subunit protein bL31m"
                     /calculated_mol_wt=11597
     transit_peptide 1..33
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (Q7Z7F7.1)"
                     /calculated_mol_wt=3549
     Region          11..125
                     /region_name="Mitoc_L55"
                     /note="Mitochondrial ribosomal protein L55; pfam09776"
                     /db_xref="CDD:430816"
     mat_peptide     34..128
                     /product="39S ribosomal protein L55, mitochondrial.
                     /id=PRO_0000273099"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z7F7.1)"
                     /calculated_mol_wt=11597
     Site            85
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZ83; propagated from
                     UniProtKB/Swiss-Prot (Q7Z7F7.1)"
     CDS             1..128
                     /gene="MRPL55"
                     /gene_synonym="AAVG5835; L55nt; MRP-L55; PRO19675"
                     /coded_by="NM_181441.3:210..596"
                     /note="isoform a is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS1567.1"
                     /db_xref="GeneID:128308"
                     /db_xref="HGNC:HGNC:16686"
                     /db_xref="MIM:611859"
ORIGIN      
        1 maavgsllgr lrqstvkatg palrrlhtss wradssrasl trvhrqayar lypvllvkqd
       61 gstihiryre prrmlampid ldtlspeerr arlrkreaql qsrkeyeqel sddlhveryr
      121 qfwtrtkk
//
LOCUS       NP_001381315             157 aa            linear   PRI 31-DEC-2022
DEFINITION  stathmin-4 isoform 8 [Homo sapiens].
ACCESSION   NP_001381315
VERSION     NP_001381315.1
DBSOURCE    REFSEQ: accession NM_001394386.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 157)
  AUTHORS   Bieche I, Maucuer A, Laurendeau I, Lachkar S, Spano AJ, Frankfurter
            A, Levy P, Manceau V, Sobel A, Vidaud M and Curmi PA.
  TITLE     Expression of stathmin family genes in human tissues:
            non-neural-restricted expression for SCLIP
  JOURNAL   Genomics 81 (4), 400-410 (2003)
   PUBMED   12676564
REFERENCE   2  (residues 1 to 157)
  AUTHORS   Gavet O, Ozon S, Manceau V, Lawler S, Curmi P and Sobel A.
  TITLE     The stathmin phosphoprotein family: intracellular localization and
            effects on the microtubule network
  JOURNAL   J Cell Sci 111 (Pt 22), 3333-3346 (1998)
   PUBMED   9788875
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090150.9.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968540
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..157
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.2"
     Protein         1..157
                     /product="stathmin-4 isoform 8"
                     /note="stathmin-like-protein RB3; stathmin-like protein
                     B3; stathmin-like 4"
                     /calculated_mol_wt=18212
     Region          17..151
                     /region_name="Stathmin"
                     /note="Stathmin family; pfam00836"
                     /db_xref="CDD:425897"
     CDS             1..157
                     /gene="STMN4"
                     /gene_synonym="RB3"
                     /coded_by="NM_001394386.1:133..606"
                     /note="isoform 8 is encoded by transcript variant 8"
                     /db_xref="GeneID:81551"
                     /db_xref="HGNC:HGNC:16078"
ORIGIN      
        1 mtlaadtvdl nwcvisdmev ielnkctsgq sfevilkpps fdgvpefnas lprrrdpsle
       61 eiqkkleaae errkyqeael lkhlaekreh ereviqkaie ennnfikmak eklaqkmesn
      121 kenreahlaa mlerlqekdk haeevrknke lkeeasr
//
LOCUS       NP_001334757            1114 aa            linear   PRI 07-FEB-2023
DEFINITION  platelet-derived growth factor receptor alpha isoform 3 [Homo
            sapiens].
ACCESSION   NP_001334757 XP_006714102
VERSION     NP_001334757.1
DBSOURCE    REFSEQ: accession NM_001347828.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1114)
  AUTHORS   Steinhauser S, Silva P, Lenk L, Beder T, Hartmann A, Hanzelmann S,
            Fransecky L, Neumann M, Bastian L, Lipinski S, Richter K, Bultmann
            M, Hubner E, Xia S, Rollig C, Vogiatzi F, Schewe DM, Yumiceba V,
            Schultz K, Spielmann M and Baldus CD.
  TITLE     Isocitrate dehydrogenase 1 mutation drives leukemogenesis by PDGFRA
            activation due to insulator disruption in acute myeloid leukemia
            (AML)
  JOURNAL   Leukemia 37 (1), 134-142 (2023)
   PUBMED   36411356
  REMARK    GeneRIF: Isocitrate dehydrogenase 1 mutation drives leukemogenesis
            by PDGFRA activation due to insulator disruption in acute myeloid
            leukemia (AML).
REFERENCE   2  (residues 1 to 1114)
  AUTHORS   Huang W, Yuan W, Ren L, Liang H, Du X, Sun X, Fang Y, Gao X, Fu M,
            Sun Y, Shen K and Hou Y.
  TITLE     Clinicopathological and therapeutic analysis of PDGFRA mutated
            gastrointestinal stromal tumor
  JOURNAL   Pathol Res Pract 239, 154138 (2022)
   PUBMED   36183438
  REMARK    GeneRIF: Clinicopathological and therapeutic analysis of PDGFRA
            mutated gastrointestinal stromal tumor.
REFERENCE   3  (residues 1 to 1114)
  AUTHORS   Salokas K, Liu X, Ohman T, Chowdhury I, Gawriyski L, Keskitalo S
            and Varjosalo M.
  TITLE     Physical and functional interactome atlas of human receptor
            tyrosine kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   4  (residues 1 to 1114)
  AUTHORS   Solinc J, Raimbault-Machado J, Dierick F, El Bernoussi L, Tu L,
            Thuillet R, Mougenot N, Hoareau-Coudert B, Monceau V, Pavoine C,
            Atassi F, Sassoon D, Marazzi G, Harvey RP, Schofield P, Christ D,
            Humbert M, Guignabert C, Soubrier F and Nadaud S.
  TITLE     Platelet-Derived Growth Factor Receptor Type alpha Activation
            Drives Pulmonary Vascular Remodeling Via Progenitor Cell
            Proliferation and Induces Pulmonary Hypertension
  JOURNAL   J Am Heart Assoc 11 (7), e023021 (2022)
   PUBMED   35348002
  REMARK    GeneRIF: Platelet-Derived Growth Factor Receptor Type alpha
            Activation Drives Pulmonary Vascular Remodeling Via Progenitor Cell
            Proliferation and Induces Pulmonary Hypertension.
REFERENCE   5  (residues 1 to 1114)
  AUTHORS   Paolini C, Agarbati S, Benfaremo D, Mozzicafreddo M, Svegliati S
            and Moroncini G.
  TITLE     PDGF/PDGFR: A Possible Molecular Target in Scleroderma Fibrosis
  JOURNAL   Int J Mol Sci 23 (7), 3904 (2022)
   PUBMED   35409263
  REMARK    GeneRIF: PDGF/PDGFR: A Possible Molecular Target in Scleroderma
            Fibrosis.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1114)
  AUTHORS   Demoulin JB and Essaghir A.
  TITLE     PDGF receptor signaling networks in normal and cancer cells
  JOURNAL   Cytokine Growth Factor Rev 25 (3), 273-283 (2014)
   PUBMED   24703957
  REMARK    Review article
REFERENCE   7  (residues 1 to 1114)
  AUTHORS   Yu JC, Heidaran MA, Pierce JH, Gutkind JS, Lombardi D, Ruggiero M
            and Aaronson SA.
  TITLE     Tyrosine mutations within the alpha platelet-derived growth factor
            receptor kinase insert domain abrogate receptor-associated
            phosphatidylinositol-3 kinase activity without affecting mitogenic
            or chemotactic signal transduction
  JOURNAL   Mol Cell Biol 11 (7), 3780-3785 (1991)
   PUBMED   1646396
REFERENCE   8  (residues 1 to 1114)
  AUTHORS   Kanakaraj P, Raj S, Khan SA and Bishayee S.
  TITLE     Ligand-induced interaction between alpha- and beta-type
            platelet-derived growth factor (PDGF) receptors: role of receptor
            heterodimers in kinase activation
  JOURNAL   Biochemistry 30 (7), 1761-1767 (1991)
   PUBMED   1847074
REFERENCE   9  (residues 1 to 1114)
  AUTHORS   Hsieh CL, Navankasattusas S, Escobedo JA, Williams LT and Francke
            U.
  TITLE     Chromosomal localization of the gene for AA-type platelet-derived
            growth factor receptor (PDGFRA) in humans and mice
  JOURNAL   Cytogenet Cell Genet 56 (3-4), 160-163 (1991)
   PUBMED   1711435
REFERENCE   10 (residues 1 to 1114)
  AUTHORS   Hart CE and Bowen-Pope DF.
  TITLE     Platelet-derived growth factor receptor: current views of the
            two-subunit model
  JOURNAL   J Invest Dermatol 94 (6 Suppl), 53S-57S (1990)
   PUBMED   2161888
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC138779.2, AC098587.5 and
            FN174599.1.
            On Dec 15, 2016 this sequence version replaced XP_006714102.1.
            
            Summary: This gene encodes a cell surface tyrosine kinase receptor
            for members of the platelet-derived growth factor family. These
            growth factors are mitogens for cells of mesenchymal origin. The
            identity of the growth factor bound to a receptor monomer
            determines whether the functional receptor is a homodimer or a
            heterodimer, composed of both platelet-derived growth factor
            receptor alpha and beta polypeptides. Studies suggest that this
            gene plays a role in organ development, wound healing, and tumor
            progression. Mutations in this gene have been associated with
            idiopathic hypereosinophilic syndrome, somatic and familial
            gastrointestinal stromal tumors, and a variety of other cancers.
            [provided by RefSeq, Mar 2012].
            
            Transcript Variant: This variant (3) contains a novel 5' UTR and 5'
            coding region compared to variant 1. The encoded isoform (3) is
            longer, has a distinct N-terminus and lacks a predicted signal
            peptide compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1359087.1,
                                           SRR14038196.2243311.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1114
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     Protein         1..1114
                     /product="platelet-derived growth factor receptor alpha
                     isoform 3"
                     /EC_number="2.7.10.1"
                     /note="PDGF-R-alpha; CD140 antigen-like family member A;
                     platelet-derived growth factor receptor, alpha
                     polypeptide; alpha-type platelet-derived growth factor
                     receptor; CD140a antigen; platelet-derived growth factor
                     receptor 2"
                     /calculated_mol_wt=125445
     Region          53..125
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          237..335
                     /region_name="IgI_PDGFR-alphabeta"
                     /note="Immunoglobulin (Ig)-like domain of platelet-derived
                     growth factor (PDGF) receptors (R), alpha and beta; member
                     of the I-set of IgSF domains; cd05861"
                     /db_xref="CDD:409447"
     Region          237..241
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409447"
     Region          248..252
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409447"
     Region          254..263
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409447"
     Region          268..273
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409447"
     Region          276..278
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409447"
     Region          282..290
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409447"
     Region          294..302
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409447"
     Region          312..318
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409447"
     Region          323..329
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409447"
     Region          338..438
                     /region_name="Ig4_PDGFR"
                     /note="Fourth immunoglobulin (Ig)-like domain of
                     platelet-derived growth factor receptor (PDGFR); cd05859"
                     /db_xref="CDD:409445"
     Region          580..981
                     /region_name="PTKc_PDGFR_alpha"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Platelet Derived Growth Factor Receptor alpha; cd05105"
                     /db_xref="CDD:173653"
     Site            order(624..625,627..630,632,650,652,700,702,706,843,
                     847..848,850,861,879..883,892,927)
                     /site_type="active"
                     /db_xref="CDD:173653"
     Site            order(624..625,627..630,632,650,652,700,702,706,847..848,
                     850,861)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:173653"
     Site            order(843,847,879..883,892,927)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:173653"
     Site            860..885
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:173653"
     CDS             1..1114
                     /gene="PDGFRA"
                     /gene_synonym="CD140A; PDGFR-2; PDGFR2"
                     /coded_by="NM_001347828.2:139..3483"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:5156"
                     /db_xref="HGNC:HGNC:8803"
                     /db_xref="MIM:173490"
ORIGIN      
        1 mlprlvlnsw aqmiclpqlp kfpramgtsh paflvlgcll tglslilcql slpsilpnen
       61 ekvvqlnssf slrcfgesev swqypmseee ssdveirnee nnsglfvtvl evssasaaht
      121 glytcyynht qteenelegr hiyiyvpdpd vafvplgmtd ylviveddds aiipcrttdp
      181 etpvtlhnse gvvpasydsr qgfngtftvg pyiceatvkg kkfqtipfnv yalkatseld
      241 lemealktvy ksgetivvtc avfnnevvdl qwtypgevkg kgitmleeik vpsiklvytl
      301 tvpeatvkds gdyecaarqa trevkemkkv tisvhekgfi eikptfsqle avnlhevkhf
      361 vvevrayppp riswlknnlt lienlteitt dvekiqeiry rsklklirak eedsghytiv
      421 aqnedavksy tfelltqvps sildlvddhh gstggqtvrc taegtplpdi ewmickdikk
      481 cnnetswtil annvsniite ihsrdrstve grvtfakvee tiavrclakn llgaenrelk
      541 lvaptlrsel tvaaavlvll viviislivl vviwkqkpry eirwrviesi spdgheyiyv
      601 dpmqlpydsr wefprdglvl grvlgsgafg kvvegtaygl srsqpvmkva vkmlkptars
      661 sekqalmsel kimthlgphl nivnllgact ksgpiyiite ycfygdlvny lhknrdsfls
      721 hhpekpkkel difglnpade strsyvilsf enngdymdmk qadttqyvpm lerkevskys
      781 diqrslydrp asykkksmld sevknllsdd nsegltlldl lsftyqvarg meflaskncv
      841 hrdlaarnvl laqgkivkic dfglardimh dsnyvskgst flpvkwmape sifdnlyttl
      901 sdvwsygill weifslggtp ypgmmvdstf ynkiksgyrm akpdhatsev yeimvkcwns
      961 epekrpsfyh lseivenllp gqykksyeki hldflksdhp avarmrvdsd nayigvtykn
     1021 eedklkdweg gldeqrlsad sgyiiplpdi dpvpeeedlg krnrhssqts eesaietgss
     1081 sstfikrede tiedidmmdd igidssdlve dsfl
//
LOCUS       NP_001411                367 aa            linear   PRI 13-FEB-2023
DEFINITION  ELAV-like protein 3 isoform 1 [Homo sapiens].
ACCESSION   NP_001411
VERSION     NP_001411.2
DBSOURCE    REFSEQ: accession NM_001420.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 367)
  AUTHORS   Cai R, Zhao F, Zhou H, Wang Z, Lin D, Huang L, Xie W, Chen J, Zhou
            L, Zhang N and Huang C.
  TITLE     A tumor-associated autoantibody panel for the detection of
            non-small cell lung cancer
  JOURNAL   Front Oncol 12, 1056572 (2022)
   PUBMED   36531074
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 367)
  AUTHORS   Diaz-Garcia S, Ko VI, Vazquez-Sanchez S, Chia R, Arogundade OA,
            Rodriguez MJ, Traynor BJ, Cleveland D and Ravits J.
  TITLE     Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic
            and familial amyotrophic lateral sclerosis
  JOURNAL   Acta Neuropathol 142 (6), 985-1001 (2021)
   PUBMED   34618203
  REMARK    GeneRIF: Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in
            sporadic and familial amyotrophic lateral sclerosis.
REFERENCE   3  (residues 1 to 367)
  AUTHORS   Lu YL, Liu Y, McCoy MJ and Yoo AS.
  TITLE     MiR-124 synergism with ELAVL3 enhances target gene expression to
            promote neuronal maturity
  JOURNAL   Proc Natl Acad Sci U S A 118 (22) (2021)
   PUBMED   34031238
  REMARK    GeneRIF: MiR-124 synergism with ELAVL3 enhances target gene
            expression to promote neuronal maturity.
REFERENCE   4  (residues 1 to 367)
  AUTHORS   Behrends U, Jandl T, Golbeck A, Lechner B, Muller-Weihrich S,
            Schmid I, Till H, Berthold F, Voltz R and Mautner JM.
  TITLE     Novel products of the HUD, HUC, NNP-1 and alpha-internexin genes
            identified by autologous antibody screening of a pediatric
            neuroblastoma library
  JOURNAL   Int J Cancer 100 (6), 669-677 (2002)
   PUBMED   12209604
  REMARK    GeneRIF: HuC expression in neuroblastoma
REFERENCE   5  (residues 1 to 367)
  AUTHORS   Park S, Myszka DG, Yu M, Littler SJ and Laird-Offringa IA.
  TITLE     HuD RNA recognition motifs play distinct roles in the formation of
            a stable complex with AU-rich RNA
  JOURNAL   Mol Cell Biol 20 (13), 4765-4772 (2000)
   PUBMED   10848602
  REMARK    Erratum:[Mol Cell Biol. 2004 Aug;24(15):6888]
REFERENCE   6  (residues 1 to 367)
  AUTHORS   King PH.
  TITLE     RNA-binding analyses of HuC and HuD with the VEGF and c-myc
            3'-untranslated regions using a novel ELISA-based assay
  JOURNAL   Nucleic Acids Res 28 (7), E20 (2000)
   PUBMED   10710437
REFERENCE   7  (residues 1 to 367)
  AUTHORS   Sakai K, Kitagawa Y and Hirose G.
  TITLE     Analysis of the RNA recognition motifs of human neuronal ELAV-like
            proteins in binding to a cytokine mRNA
  JOURNAL   Biochem Biophys Res Commun 256 (2), 263-268 (1999)
   PUBMED   10079173
REFERENCE   8  (residues 1 to 367)
  AUTHORS   Van Tine BA, Knops JF, Butler A, Deloukas P, Shaw GM and King PH.
  TITLE     Localization of HuC (ELAVL3) to chromosome 19p13.2 by fluorescence
            in situ hybridization utilizing a novel tyramide labeling technique
  JOURNAL   Genomics 53 (3), 296-299 (1998)
   PUBMED   9799595
REFERENCE   9  (residues 1 to 367)
  AUTHORS   Sakai K, Gofuku M, Kitagawa Y, Ogasawara T, Hirose G, Yamazaki M,
            Koh CS, Yanagisawa N and Steinman L.
  TITLE     A hippocampal protein associated with paraneoplastic neurologic
            syndrome and small cell lung carcinoma
  JOURNAL   Biochem Biophys Res Commun 199 (3), 1200-1208 (1994)
   PUBMED   7511893
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008481.9, BI117592.1,
            BC014144.2, L26405.1, AL512714.1 and AI199100.1.
            On Jun 28, 2004 this sequence version replaced NP_001411.1.
            
            Summary: A member of the ELAVL protein family, ELAV-like 3 is a
            neural-specific RNA-binding protein which contains three RNP-type
            RNA recognition motifs. The observation that ELAVL3 is one of
            several Hu antigens (neuronal-specific RNA-binding proteins)
            recognized by the anti-Hu serum antibody present in sera from
            patients with paraneoplastic encephalomyelitis and sensory
            neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two
            alternatively spliced transcript variants encoding distinct
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.28665.1,
                                           SRR3476690.447031.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359227.8/ ENSP00000352162.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     Protein         1..367
                     /product="ELAV-like protein 3 isoform 1"
                     /note="Hu antigen C; ELAV like neuron-specific RNA binding
                     protein 3; paraneoplastic limbic encephalitis antigen 21;
                     paraneoplastic cerebellar degeneration-associated antigen;
                     ELAV-like protein 3; hu-antigen C; ELAV (embryonic lethal,
                     abnormal vision, Drosophila)-like 3 (Hu antigen C)"
                     /calculated_mol_wt=39416
     Region          36..366
                     /region_name="ELAV_HUD_SF"
                     /note="ELAV/HuD family splicing factor; TIGR01661"
                     /db_xref="CDD:273741"
     CDS             1..367
                     /gene="ELAVL3"
                     /gene_synonym="HUC; HUCL; PLE21"
                     /coded_by="NM_001420.4:439..1542"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS32912.1"
                     /db_xref="GeneID:1995"
                     /db_xref="HGNC:HGNC:3314"
                     /db_xref="MIM:603458"
ORIGIN      
        1 mvtqilgame sqvgggpagp alpngpllgt ngatddsktn livnylpqnm tqdefkslfg
       61 sigdiesckl vrdkitgqsl gygfvnysdp ndadkaintl nglklqtkti kvsyarpssa
      121 sirdanlyvs glpktmsqke meqlfsqygr iitsrilvdq vtgvsrgvgf irfdkrieae
      181 eaikglngqk plgaaepitv kfannpsqkt gqallthlyq ssarryagpl hhqtqrfrld
      241 nllnmaygvk splsliarfs piaidgmsgl agvglsggaa gagwcifvyn lspeadesvl
      301 wqlfgpfgav tnvkvirdft tnkckgfgfv tmtnydeaam aiaslngyrl gervlqvsfk
      361 tskqhka
//
LOCUS       NP_001371969             316 aa            linear   PRI 18-MAR-2023
DEFINITION  testis-expressed protein 9 isoform 2 [Homo sapiens].
ACCESSION   NP_001371969
VERSION     NP_001371969.1
DBSOURCE    REFSEQ: accession NM_001385040.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 316)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 316)
  AUTHORS   Xu F, Zhang S, Liu Z, Gu J, Li Y, Wang L, Mao W, Zhu Q, Shou H, Ge
            D and Lu C.
  TITLE     TEX9 and eIF3b functionally synergize to promote the progression of
            esophageal squamous cell carcinoma
  JOURNAL   BMC Cancer 19 (1), 875 (2019)
   PUBMED   31481019
  REMARK    GeneRIF: Testis-expressed protein 9 (TEX9) expression is positively
            associated with eukaryotic translation initiation factor 3 subunit
            b (eIF3b) expression in esophageal squamous cell carcinoma (ESCC).
            TEX9 expression is positively correlated with tumor-node-metastasis
            stage in ESCC. eIF3b binding to TEX9 mRNA functionally synergizes
            to promote the proliferation and migration, and inhibit the
            apoptosis of ESCC cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 316)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   4  (residues 1 to 316)
  AUTHORS   Gupta GD, Coyaud E, Goncalves J, Mojarad BA, Liu Y, Wu Q,
            Gheiratmand L, Comartin D, Tkach JM, Cheung SW, Bashkurov M,
            Hasegan M, Knight JD, Lin ZY, Schueler M, Hildebrandt F, Moffat J,
            Gingras AC, Raught B and Pelletier L.
  TITLE     A Dynamic Protein Interaction Landscape of the Human
            Centrosome-Cilium Interface
  JOURNAL   Cell 163 (6), 1484-1499 (2015)
   PUBMED   26638075
REFERENCE   5  (residues 1 to 316)
  AUTHORS   Goldstein JI, Jarskog LF, Hilliard C, Alfirevic A, Duncan L,
            Fourches D, Huang H, Lek M, Neale BM, Ripke S, Shianna K,
            Szatkiewicz JP, Tropsha A, van den Oord EJ, Cascorbi I, Dettling M,
            Gazit E, Goff DC, Holden AL, Kelly DL, Malhotra AK, Nielsen J,
            Pirmohamed M, Rujescu D, Werge T, Levy DL, Josiassen RC, Kennedy
            JL, Lieberman JA, Daly MJ and Sullivan PF.
  TITLE     Clozapine-induced agranulocytosis is associated with rare HLA-DQB1
            and HLA-B alleles
  JOURNAL   Nat Commun 5, 4757 (2014)
   PUBMED   25187353
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 316)
  AUTHORS   Weimann M, Grossmann A, Woodsmith J, Ozkan Z, Birth P, Meierhofer
            D, Benlasfer N, Valovka T, Timmermann B, Wanker EE, Sauer S and
            Stelzl U.
  TITLE     A Y2H-seq approach defines the human protein methyltransferase
            interactome
  JOURNAL   Nat Methods 10 (4), 339-342 (2013)
   PUBMED   23455924
REFERENCE   7  (residues 1 to 316)
  AUTHORS   Brandler WM, Morris AP, Evans DM, Scerri TS, Kemp JP, Timpson NJ,
            St Pourcain B, Smith GD, Ring SM, Stein J, Monaco AP, Talcott JB,
            Fisher SE, Webber C and Paracchini S.
  TITLE     Common variants in left/right asymmetry genes and pathways are
            associated with relative hand skill
  JOURNAL   PLoS Genet 9 (9), e1003751 (2013)
   PUBMED   24068947
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC068726.5 and AC084782.2.
            
            Transcript Variant: This variant (3) differs in the 5' and 3' UTRs
            compared to variant 2. Variants 2-8 all encode the same isoform
            (2).
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803615.124832.1, SRR1803613.380692.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2145245, SAMEA2467147 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..316
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     Protein         1..316
                     /product="testis-expressed protein 9 isoform 2"
                     /note="testis-expressed sequence 9 protein;
                     testis-expressed protein 9"
                     /calculated_mol_wt=36428
     Region          <115..>273
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..316
                     /gene="TEX9"
                     /coded_by="NM_001385040.1:349..1299"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS66776.1"
                     /db_xref="GeneID:374618"
                     /db_xref="HGNC:HGNC:29585"
ORIGIN      
        1 mkscddeddy slrgllpseg ivhlhsetkp ktknidpvnk vqnklhsank grktnssvkl
       61 kysdvqtadd vaipedfsdf slaktiskie gqleeeglpe yiddifsgvs ndigteaqir
      121 flkaklhvmq eeldnvvcec nkkedeiqnl ksqvknfeed fmrqqrtinm qqsqvekykt
      181 lfeeankkyd glqqqlssve relenkrrlq kqaassqsat evrlnralee aekyklelsk
      241 lrqnnkdian eehkkievlk senkklekqk gelmigfkkq lklidvlkrq kmhieaakml
      301 sfteeefmka lewgns
//
LOCUS       NP_001136406             630 aa            linear   PRI 18-MAR-2023
DEFINITION  choline O-acetyltransferase isoform 1 [Homo sapiens].
ACCESSION   NP_001136406
VERSION     NP_001136406.2
DBSOURCE    REFSEQ: accession NM_001142934.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 630)
  AUTHORS   Wang S, Zhang G and Lu H.
  TITLE     Genetic associations in CHAT and COL11A1 with primary angle-closure
            glaucoma susceptibility: A systematic review and meta-analysis
  JOURNAL   Indian J Ophthalmol 71 (2), 343-349 (2023)
   PUBMED   36727317
  REMARK    GeneRIF: Genetic associations in CHAT and COL11A1 with primary
            angle-closure glaucoma susceptibility: A systematic review and
            meta-analysis.
REFERENCE   2  (residues 1 to 630)
  AUTHORS   Kimura N, Shiga K, Kaneko KI, Oki Y, Sugisawa C, Saito J, Tawara S,
            Akahori H, Sogabe S, Yamashita T, Takekoshi K, Naruse M and
            Katabami T.
  TITLE     Immunohistochemical Expression of Choline Acetyltransferase and
            Catecholamine-Synthesizing Enzymes in Head-and-Neck and
            Thoracoabdominal Paragangliomas and Pheochromocytomas
  JOURNAL   Endocr Pathol 32 (4), 442-451 (2021)
   PUBMED   34743284
  REMARK    GeneRIF: Immunohistochemical Expression of Choline
            Acetyltransferase and Catecholamine-Synthesizing Enzymes in
            Head-and-Neck and Thoracoabdominal Paragangliomas and
            Pheochromocytomas.
REFERENCE   3  (residues 1 to 630)
  AUTHORS   Chester AH, McCormack A, Miller EJ, Ahmed MN and Yacoub MH.
  TITLE     Coronary vasodilation mediated by T cells expressing choline
            acetyltransferase
  JOURNAL   Am J Physiol Heart Circ Physiol 321 (5), H933-H939 (2021)
   PUBMED   34597185
  REMARK    GeneRIF: Coronary vasodilation mediated by T cells expressing
            choline acetyltransferase.
REFERENCE   4  (residues 1 to 630)
  AUTHORS   Misawa H, Matsuura J, Oda Y, Takahashi R and Deguchi T.
  TITLE     Human choline acetyltransferase mRNAs with different 5'-region
            produce a 69-kDa major translation product
  JOURNAL   Brain Res Mol Brain Res 44 (2), 323-333 (1997)
   PUBMED   9073174
REFERENCE   5  (residues 1 to 630)
  AUTHORS   Chireux MA, Le Van Thai A and Weber MJ.
  TITLE     Human choline acetyltransferase gene: localization of alternative
            first exons
  JOURNAL   J Neurosci Res 40 (4), 427-438 (1995)
   PUBMED   7616604
REFERENCE   6  (residues 1 to 630)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
REFERENCE   7  (residues 1 to 630)
  AUTHORS   Oda Y, Nakanishi I and Deguchi T.
  TITLE     A complementary DNA for human choline acetyltransferase induces two
            forms of enzyme with different molecular weights in cultured cells
  JOURNAL   Brain Res Mol Brain Res 16 (3-4), 287-294 (1992)
   PUBMED   1337937
REFERENCE   8  (residues 1 to 630)
  AUTHORS   Misawa H, Ishii K and Deguchi T.
  TITLE     Gene expression of mouse choline acetyltransferase. Alternative
            splicing and identification of a highly active promoter region
  JOURNAL   J Biol Chem 267 (28), 20392-20399 (1992)
   PUBMED   1400357
REFERENCE   9  (residues 1 to 630)
  AUTHORS   Lorenzi MV, Trinidad AC, Zhang R and Strauss WL.
  TITLE     Two mRNAs are transcribed from the human gene for choline
            acetyltransferase
  JOURNAL   DNA Cell Biol 11 (8), 593-603 (1992)
   PUBMED   1388731
REFERENCE   10 (residues 1 to 630)
  AUTHORS   Toussaint JL, Geoffroy V, Schmitt M, Werner A, Garnier JM, Simoni P
            and Kempf J.
  TITLE     Human choline acetyltransferase (CHAT): partial gene sequence and
            potential control regions
  JOURNAL   Genomics 12 (2), 412-416 (1992)
   PUBMED   1339386
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073366.4.
            On Apr 23, 2020 this sequence version replaced NP_001136406.1.
            
            Summary: This gene encodes an enzyme which catalyzes the
            biosynthesis of the neurotransmitter acetylcholine. This gene
            product is a characteristic feature of cholinergic neurons, and
            changes in these neurons may explain some of the symptoms of
            Alzheimer's disease. Polymorphisms in this gene have been
            associated with Alzheimer's disease and mild cognitive impairment.
            Mutations in this gene are associated with congenital myasthenic
            syndrome associated with episodic apnea. Multiple transcript
            variants encoding different isoforms have been found for this gene,
            and some of these variants have been shown to encode more than one
            isoform. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (S) contains alternate 5' exons M
            and S in the 5' coding region but uses a downstream start codon and
            encodes isoform 1 (PMID 11172068). Transcript variants R, N1, N2, M
            and S encode isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF305908.2 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
                                                (PMID:1337937)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..630
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.23"
     Protein         1..630
                     /product="choline O-acetyltransferase isoform 1"
                     /EC_number="2.3.1.6"
                     /note="acetyl CoA:choline O-acetyltransferase; choline
                     acetylase"
                     /calculated_mol_wt=70263
     Region          16..595
                     /region_name="Carn_acyltransf"
                     /note="Choline/Carnitine o-acyltransferase; pfam00755"
                     /db_xref="CDD:425853"
     CDS             1..630
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /coded_by="NM_001142934.2:578..2470"
                     /note="isoform 1 is encoded by transcript variant S"
                     /db_xref="CCDS:CCDS7233.1"
                     /db_xref="GeneID:1103"
                     /db_xref="HGNC:HGNC:1912"
                     /db_xref="MIM:118490"
ORIGIN      
        1 maaktpssee sglpklpvpp lqqtlatylq cmrhlvseeq frksqaivqq fgapgglget
       61 lqqkllerqe ktanwvseyw lndmylnnrl alpvnsspav ifarqhfpgt ddqlrfaasl
      121 isgvlsykal ldshsiptdc akgqlsgqpl cmkqyyglfs syrlpghtqd tlvaqnssim
      181 pepehvivac cnqffvldvv infrrlsegd lftqlrkivk masnederlp piglltsdgr
      241 sewaeartvl vkdstnrdsl dmierciclv cldapggvel sdthralqll hgggysknga
      301 nrwydkslqf vvgrdgtcgv vcehspfdgi vlvqctehll khvtqssrkl iradsvselp
      361 aprrlrwkcs peiqghlass aeklqrivkn ldfivykfdn ygktfikkqk cspdafiqva
      421 lqlafyrlhr rlvptyesas irrfqegrvd nirsatpeal afvravtdhk aavpasekll
      481 llkdairaqt aytvmaitgm aidnhllalr elaramckel pemfmdetyl msnrfvlsts
      541 qvptttemfc cygpvvpngy gacynpqpet ilfcissfhs cketssskfa kaveeslidm
      601 rdlcsllppt eskplatkek atrpsqghqp
//
LOCUS       XP_016855774             788 aa            linear   PRI 20-MAR-2023
DEFINITION  glutamate-rich protein 3 isoform X4 [Homo sapiens].
ACCESSION   XP_016855774
VERSION     XP_016855774.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017000285.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..788
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..788
                     /product="glutamate-rich protein 3 isoform X4"
                     /calculated_mol_wt=84534
     Region          <186..530
                     /region_name="MDN1"
                     /note="Midasin, AAA ATPase with vWA domain, involved in
                     ribosome maturation [Translation, ribosomal structure and
                     biogenesis]; COG5271"
                     /db_xref="CDD:227596"
     Region          <534..768
                     /region_name="2A1904"
                     /note="K+-dependent Na+/Ca+ exchanger; TIGR00927"
                     /db_xref="CDD:273344"
     CDS             1..788
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
                     /coded_by="XM_017000285.3:541..2907"
                     /db_xref="GeneID:127254"
                     /db_xref="HGNC:HGNC:25346"
ORIGIN      
        1 mnfmvdetaa insnkesqql vqktytlekk eameedeapq hrdadivqgk geaalwgeag
       61 avheaplraw kptaeqpela eeftekreip pgiergaega aeaegvrrlg eggsdpigqa
      121 aakdavglsk deapekqalm ltvletdkaa segeqgleka vlaneaaaln lehlhevaal
      181 reaatseege aeggvavsdv geseeeasid ledtgpmedt askredgsee ailggeepak
      241 erkevmrtet rlspftgeae asrmqvsegs peegslakea flckedvege emvteaeanr
      301 eddrkeilpk eldlarerrk aerpktslrk tdsereevtr analkdedaf keeqklkaee
      361 getetevrae eetkappnem gsdaeneapv easelsdnpg llgedslket vvpifeatpg
      421 fekslenita lrkegggerl seardtehkd reelssrenr alkeghrqdg egalaapeae
      481 pagkvqapeg lipatgqaee laakdhdsca glegraegqg gvdvvlrtqe avaeedpima
      541 ekfreeavde dpeeeedkec tleteamqdr nsegdgdmeg egntqknegm gggrvvavev
      601 lhgggetaet aaeerevlag setaeektia nkassfsdva eeetwhqqde lvgktaaagk
      661 vvveelarsg eevpaaeemt vtytteagvg tpgalerkts glgqeqeegs egqeaatgsg
      721 dgrqetgaae kfrlglsreg erelspeslq amatlpvkpd ftetrekqqh mvqgesetad
      781 vspnnvqv
//
LOCUS       XP_005270596             357 aa            linear   PRI 20-MAR-2023
DEFINITION  cytochrome P450 4A11 isoform X2 [Homo sapiens].
ACCESSION   XP_005270596
VERSION     XP_005270596.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005270539.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..357
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..357
                     /product="cytochrome P450 4A11 isoform X2"
                     /calculated_mol_wt=40197
     Region          74..357
                     /region_name="cytochrome_P450"
                     /note="cytochrome P450 (CYP) superfamily; cl41757"
                     /db_xref="CDD:425388"
     CDS             1..357
                     /gene="CYP4A11"
                     /gene_synonym="CP4Y; CYP4A2; CYP4AII; CYPIVA11"
                     /coded_by="XM_005270539.1:44..1117"
                     /db_xref="GeneID:1579"
                     /db_xref="HGNC:HGNC:2642"
                     /db_xref="MIM:601310"
ORIGIN      
        1 msvsvlspsr llgdvsgilq aasllillll likavqlylh rqwllkalqq fpcppshwlf
       61 ghiqelqqdq elqriqkwve tfpsacphwl wggkvrvqly dpdymkvilg rsdpkshgsy
      121 rflapwigyg llllngqtwf qhrrmltpaf hydilkpyvg lmadsvrvml dkweellgqd
      181 splevfqhvs lmtldtimkc afshqgsiqv drpsdpteeg sttegggage dqeeeafgfs
      241 gypplgqrap glprpcwcsg wncfrnhldq mpyttmcike alrlyppvpg igrelstpvt
      301 fpdgrslpkg imvllsiygl hhnpkvwpnp evfdpfrfap gsaqhshafl pfsggsr
//
LOCUS       XP_016856480             564 aa            linear   PRI 20-MAR-2023
DEFINITION  dynamin-3 isoform X16 [Homo sapiens].
ACCESSION   XP_016856480
VERSION     XP_016856480.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017000991.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..564
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..564
                     /product="dynamin-3 isoform X16"
                     /calculated_mol_wt=63784
     Region          6..245
                     /region_name="DYNc"
                     /note="Dynamin, GTPase; smart00053"
                     /db_xref="CDD:197491"
     Region          215..502
                     /region_name="Dynamin_M"
                     /note="Dynamin central region; pfam01031"
                     /db_xref="CDD:426002"
     CDS             1..564
                     /gene="DNM3"
                     /gene_synonym="Dyna III"
                     /coded_by="XM_017000991.2:160..1854"
                     /db_xref="GeneID:26052"
                     /db_xref="HGNC:HGNC:29125"
                     /db_xref="MIM:611445"
ORIGIN      
        1 mgnremeeli plvnrlqdaf salgqsclle lpqiavvggq sagkssvlen fvgrdflprg
       61 sgivtrrplv lqlvtskaey aeflhckgkk ftdfdevrle ieaetdrvtg mnkgissipi
      121 nlrvysphvl nltlidlpgi tkvpvgdqpp dieyqiremi mqfitrencl ilavtpantd
      181 lansdalkla kevdpqglrt igvitkldlm degtdardvl enkllplrrg yvgvvnrsqk
      241 didgkkdika amlaerkffl shpayrhiad rmgtphlqkv lnqqltnhir dtlpnfrnkl
      301 qgqllsiehe veayknfkpe dptrktkall qmvqqfavdf ekriegsgdq vdtlelsgga
      361 kinrifherf pfeivkmefn ekelrreisy aiknihgirt glftpdmafe aivkkqivkl
      421 kgpslksvdl viqelintvk kctkklanfp rlceeteriv anhireregk tkdqvlllid
      481 iqvsyintnh edfigfanaq qrssqvhkkt tvgnqgtnlp psrqivrakf cdsqgvahhq
      541 qhwhherrle gilvrpycgk lvlv
//
LOCUS       XP_006710721             525 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear transcription factor Y subunit gamma isoform X5 [Homo
            sapiens].
ACCESSION   XP_006710721
VERSION     XP_006710721.3
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006710658.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_006710721.2.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..525
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..525
                     /product="nuclear transcription factor Y subunit gamma
                     isoform X5"
                     /calculated_mol_wt=57628
     Region          <103..>209
                     /region_name="HAP5"
                     /note="CCAAT-binding factor, subunit C [Transcription];
                     COG5208"
                     /db_xref="CDD:227533"
     CDS             1..525
                     /gene="NFYC"
                     /gene_synonym="CBF-C; CBFC; H1TF2A; HAP5; HSM; NF-YC"
                     /coded_by="XM_006710658.4:1356..2933"
                     /db_xref="GeneID:4802"
                     /db_xref="HGNC:HGNC:7806"
                     /db_xref="MIM:605344"
ORIGIN      
        1 mvldvlfelc tfvmfwgdir gqpefvtrll nrtglctptk pthplasvqr yrpgncasfs
       61 fdlsslhgrl cqdeacpgth aikvvemste ggfggtsssd aqqslqsfwp rvmeeirnlt
      121 vkdfrvqelp larikkimkl dedvkmisae apvlfakaaq ifiteltlra wihtednkrr
      181 tlqrndiama itkfdqfdfl idivprdelk ppkrqeevrq svtpaepvqy yftlaqqpta
      241 vqvqgqqqgq qttsstttiq pgqiiiaqpq qgqttpvtmq vgegqqvqiv qaqpqgqaqq
      301 aqsgtgqtmq vmqqiitntg eiqqipvqln agqlqyirla qpvsgtqvvq gqiqtlatna
      361 qqitqtevqq gqqqfsqftd gqrnsvqqar vseltgeaep revkatgnst pctsslptth
      421 ppshragasc vccsqpqqss tspppsdalq wvvvevsgtp nqlethrelh aplpgmtsls
      481 plhpsqqlyq iqqvtmpagq dlaqpmfiqs anqpsdgqap qvtgd
//
LOCUS       XP_011538073             218 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 172 isoform X3 [Homo
            sapiens].
ACCESSION   XP_011538073
VERSION     XP_011538073.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011539771.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..218
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..218
                     /product="coiled-coil domain-containing protein 172
                     isoform X3"
                     /calculated_mol_wt=26131
     Region          <3..>209
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..218
                     /gene="CCDC172"
                     /gene_synonym="C10orf96"
                     /coded_by="XM_011539771.3:232..888"
                     /db_xref="GeneID:374355"
                     /db_xref="HGNC:HGNC:30524"
ORIGIN      
        1 msleslfqhi iftehqaees rrlmrevrse itrcrekikk ateelneeki kleskvqqff
       61 eksfflqllk ahenalekqy seitnhrnml lqtfeaikkq mieeedkfik eitdfnndye
      121 itkkrellmk envkieisdl enqanmlkse mksmehdssq lnelqkqkse liqelftlqr
      181 klkvfedeen esicttkyle aekikisekp qndteclr
//
LOCUS       XP_016871968             406 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 1 isoform X2
            [Homo sapiens].
ACCESSION   XP_016871968
VERSION     XP_016871968.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017016479.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..406
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..406
                     /product="pleckstrin homology domain-containing family A
                     member 1 isoform X2"
                     /calculated_mol_wt=46412
     Region          1..117
                     /region_name="PH1_TAPP1_2"
                     /note="Tandem PH-domain-containing proteins 1 and 2
                     Pleckstrin homology (PH) domain, N-terminal repeat;
                     cd13270"
                     /db_xref="CDD:270089"
     Region          185..298
                     /region_name="PH2_TAPP1_2"
                     /note="Tandem PH-domain-containing proteins 1 and 2
                     Pleckstrin homology (PH) domain, C-terminal repeat;
                     cd13271"
                     /db_xref="CDD:270090"
     Site            order(200,202..203,211,222,232..233,265)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:270090"
     CDS             1..406
                     /gene="PLEKHA1"
                     /gene_synonym="TAPP1"
                     /coded_by="XM_017016479.3:190..1410"
                     /db_xref="GeneID:59338"
                     /db_xref="HGNC:HGNC:14335"
                     /db_xref="MIM:607772"
ORIGIN      
        1 mpyvdrqnri cgfldieene nsgkflrryf ildtredsfv wymdnpqnlp sgssrvgaik
       61 ltyiskvsda tklrpkaefc fvmnagmrky flqandqqdl vewvnvlnka ikitvpkqsd
      121 sqpnsdnlsr hgecgkkqvs yrtdivggvp iitptqkeev necgesidrn nlkrsqshlp
      181 yftpkppqds avikagycvk qgavmknwkr ryfqldenti gyfkseleke plrviplkev
      241 hkvqeckqsd immrdnlfei vttsrtfyvq adspeemhsw ikavsgaiva qrgpgrsass
      301 qssmrlsakt vsvgkrkswr ricgrpegcr tlvyrgaspr sfriqtrfps yqrshrhltf
      361 hslsqqlfgl nlyhgearil rvscqgqare lqgpdclskr tsfqsd
//
LOCUS       XP_047281574             219 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM204A isoform X1 [Homo sapiens].
ACCESSION   XP_047281574
VERSION     XP_047281574.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425618.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..219
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..219
                     /product="protein FAM204A isoform X1"
                     /calculated_mol_wt=25065
     CDS             1..219
                     /gene="FAM204A"
                     /gene_synonym="bA319I23.1; C10orf84"
                     /coded_by="XM_047425618.1:64..723"
                     /db_xref="GeneID:63877"
                     /db_xref="HGNC:HGNC:25794"
ORIGIN      
        1 mwsgllppgl nesdaesnse deatlensgl nlqedkedes irkteiidfs tdepktetes
       61 nvnayeecps gipidmwnkf qelhkkhseq ksttsrfrgk rrkrsrkdkl knekelhsep
      121 ssnetqwkel tqyfgvndrf dppvkrkkve ksglekridq aveewnieka eelsnqlatr
      181 eenhgsnvvc fsvsaiqrlv lslcpfpdgv tsinyfslv
//
LOCUS       XP_047282066             161 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124900286 isoform X4 [Homo sapiens].
ACCESSION   XP_047282066
VERSION     XP_047282066.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426110.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..161
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..161
                     /product="uncharacterized protein LOC124900286 isoform X4"
                     /calculated_mol_wt=17761
     CDS             1..161
                     /gene="LOC124900286"
                     /coded_by="XM_047426110.1:77..562"
                     /db_xref="GeneID:124900286"
ORIGIN      
        1 messrwdkdp pgerrpqqsq hwrardhgar gcgprqptat asprpglwit pahgshtpqt
       61 ntrrtqadni fiygapppaq vwdhrppris tdpvltcitp mmasqrgfrs pvglphqrgl
      121 ltsratnvdt ipsgttyfci pstvlrsqgg psklwnnqtr d
//
LOCUS       XP_011535773             200 aa            linear   PRI 20-MAR-2023
DEFINITION  sperm acrosome-associated protein 7 isoform X4 [Homo sapiens].
ACCESSION   XP_011535773
VERSION     XP_011535773.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011537471.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..200
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..200
                     /product="sperm acrosome-associated protein 7 isoform X4"
                     /calculated_mol_wt=21469
     Region          <1..80
                     /region_name="SPACA7"
                     /note="Sperm acrosome-associated protein 7; pfam15307"
                     /db_xref="CDD:434617"
     CDS             1..200
                     /gene="SPACA7"
                     /gene_synonym="C13orf28"
                     /coded_by="XM_011537471.3:328..930"
                     /db_xref="GeneID:122258"
                     /db_xref="HGNC:HGNC:29575"
ORIGIN      
        1 mselldeilv qeildlnktt psempstast lstplhagid enyqaggsen yhellenlqf
       61 spgievkisn deanananlh gdpsenyrgp qvspgseksv sskadgislh telpgvgrgv
      121 ipalswppql apmlgltqsp taaqtstvpe liqeknsknt qyenlsildq ilqnigrssg
      181 nifhkeqqrt saqrrsqgsq
//
LOCUS       XP_047287689            2423 aa            linear   PRI 20-MAR-2023
DEFINITION  telomerase protein component 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047287689
VERSION     XP_047287689.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431733.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2423
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..2423
                     /product="telomerase protein component 1 isoform X2"
                     /calculated_mol_wt=267861
     Region          22..472
                     /region_name="TROVE"
                     /note="TROVE domain; pfam05731"
                     /db_xref="CDD:428607"
     Region          483..685
                     /region_name="DUF5920"
                     /note="Domain of unknown function (DUF5920); pfam19334"
                     /db_xref="CDD:437166"
     Region          696..779
                     /region_name="DUF4062"
                     /note="Domain of unknown function (DUF4062); pfam13271"
                     /db_xref="CDD:433074"
     Region          958..1133
                     /region_name="NACHT"
                     /note="NACHT domain; pfam05729"
                     /db_xref="CDD:428606"
     Region          1476..1751
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Region          1476..1512
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Site            order(1489,1493,1499..1500,1512..1513,1531,1534,
                     1540..1541,1553..1554,1571,1576,1582..1583,1593,1612,1617,
                     1623..1624,1636..1637,1655,1659,1665..1666,1678..1679,
                     1696,1701,1707..1708,1720..1721,1740,1745,1750..1751)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          1518..1553
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1558..1597
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1600..1636
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1641..1677
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1684..1719
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1768..2104
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Region          1768..1809
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Site            order(1781,1785,1791,1797,1823,1827,1833..1834,1855..1856,
                     1873,1878,1884..1885,1902,1919,1923,1929..1930,1942..1943,
                     1959,1963,1969..1970,2032..2033,2050,2055,2061..2062,
                     2074..2075,2093,2097,2103..2104)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          1812..1855
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1860..1899
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1907..1941
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1947..2031
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          2027..>2187
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          2037..2076
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          2079..2103
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          2122..2155
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          2168..2214
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..2423
                     /gene="TEP1"
                     /gene_synonym="p240; TLP1; TP1; TROVE1; VAULT2"
                     /coded_by="XM_047431733.1:1329..8600"
                     /db_xref="GeneID:7011"
                     /db_xref="HGNC:HGNC:11726"
                     /db_xref="MIM:601686"
ORIGIN      
        1 mpsyslslge eeevedlavk ltsgdseshp eptdhvlqek kmallsllcs tlvsevnmnn
       61 tsdptlaaif eicrelalle pefilkasly arqqlnvrnv annilaiaaf lpacrphlrr
      121 yfcaivqlps dwiqvaelyq slaegdknkl vplpaclrta mtdkfaqfde yqlakynprk
      181 hrakrhprrp prspgmeppf shrcfpryig flreeqrkfe kagdtvsekk npprftlkkl
      241 vqrlhihkpa qhvqallgyr ypsnlqlfsr srlpgpwdss ragkrmklsr petwerelsl
      301 rgnkasvwee liengklpfm amlrnlcnll rvgissrhhe lilqrlqhak svihsrqfpf
      361 rflnahdaid aleaqlrnqa lpfpsnitlm rriltrnekn rprrrflchl srqqlrmamr
      421 ipvlyeqlkr eklrvhkarq wkydgemlnr yrqaletavn lsvkhslpll pgrtvlvylt
      481 danadrlcpk snpqgpplny allligmmit raeqvdvvlc ggdtlktavl kaeegilkta
      541 iklqaqvqef dendgwslnt fgkyllslag qrvpvdrvil lgqsmddgmi nvakqlywqr
      601 vnskclfvgi llrrvqylst dlnpndvtls gctdailkfi aehgashlle hvgqmdkifk
      661 ippppgktgv qslrpleedt psplapvsqq gwrsirlfis stfrdmhger dlllrsvlpa
      721 lqaraaphri slhgidlrwg vteeetrrnr qlevclgeve naqlfvgilg srygyippsy
      781 nlpdhphfhw aqqypsgrsv temevmqfln rnqrlqpsaq aliyfrdssf lssvpdawks
      841 dfvseseeaa rriselksyl srqkgitcrr ypcewggvaa grpyvgglee fgqlvlqdvw
      901 nmiqklylqp galleqpvsi pdddlvqatf qqlqkppspa rprllqdtvq rlmlphgrls
      961 lvtgqsgqgk taflaslvsa lqapdgakva slvffhfsga rpdqglaltl lrrlctylrg
     1021 qlkepgalps tyrslvwelq qrllpksaes lhpgqtqvli idgadrlvdq ngqlisdwip
     1081 kklprcvhlv lsvssdaglg etleqsqgah vlalgpleas ararlvreel alygkrlees
     1141 pfnnqmrlll vkresgrply lrlvtdhlrl ftlyeqvser lrtlpatvpl llqhilstle
     1201 kehgpdvlpq altalevtrs gltvdqlhgv lsvwrtlpkg tksweeavaa gnsgdpypmg
     1261 pfaclvqslr sllgegpler pgarlclpdg plrtaakrcy gkrpgledta hiliaaqlwk
     1321 tcdadasgtf rscppealgd lpyhllqsgn rgllskfltn lhvvaahlel glvsrlleah
     1381 alyassvpke eqklpeadva vfrtflrqqa silsqyprll pqqaanqpld splchqasll
     1441 srrwhlqhtl rwlnkprtmk nqqssslsla vsssptavaf stngqraavg tangtvylld
     1501 lrtwqeeksv vsgcdgisac lflsddtlfl tafdgllelw dlqhgcrvlq tkahqyqitg
     1561 cclspdcrll atvclggclk lwdtvrgqla fqhtypksln cvafhpegqv iatgswagsi
     1621 sffqvdglkv tkdlgapgas irtlafnvpg gvvavgrlds mvelwawreg arlaafpahh
     1681 gfvaaalflh agcqlltage dgkvqvwsgs lgrprghlgs lslspalsva lspdgdrvav
     1741 gyradgiriy kissgsqgaq gqaldvavsa lawlspkvlv sgaedgslqg walkecslqs
     1801 lwllsrfqkp vlglatsqel lasasedftv qlwprqlltr phkaedfpcg telrghegpv
     1861 sccsfstdgg slatggrdrs llcwdvrtpk tpvlihsfpa chrdwvtgca wtkdnllisc
     1921 ssdgsvglwd pesgqrlgqf lghqsavsav aaveehvvsv srdgtlkvwd hqgveltsip
     1981 ahsgpishca aamepraagq pgsellvvtv gldgatrlwh pllvcqthtl lghsgpvraa
     2041 avsetsglml tasedgsvrl wqvpkeaddt ciprssaavt avawapdgsm avsgnqagel
     2101 ilwqeakava taqapghiga liwssahtff vlsadekise wqvklrkgsa pgnlslhlnr
     2161 ilqedlgvlt sldwapdghf lilakadlkl lcmkpgdaps eiwssytenp milsthkeyg
     2221 ifvlqpkdpg vlsflrqkes gefeerlnfd inlenpsrtl isitqakpes essflcassd
     2281 gilwnlakcs pegewttgnm wqkkantpet qtpgtdpstc resdasmdsd asmdseptph
     2341 lktrqrrkih sgsvtalhvl pellvtaskd rdvklwerps mqllglfrce gsvsclepwl
     2401 ganstlqlav gdvqgnvyfl nwe
//
LOCUS       XP_011521593             402 aa            linear   PRI 20-MAR-2023
DEFINITION  protein NDRG4 isoform X2 [Homo sapiens].
ACCESSION   XP_011521593
VERSION     XP_011521593.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523291.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..402
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..402
                     /product="protein NDRG4 isoform X2"
                     /calculated_mol_wt=43962
     Region          58..340
                     /region_name="Ndr"
                     /note="Ndr family; pfam03096"
                     /db_xref="CDD:397285"
     CDS             1..402
                     /gene="NDRG4"
                     /gene_synonym="BDM1; SMAP-8; SMAP8"
                     /coded_by="XM_011523291.4:295..1503"
                     /db_xref="GeneID:65009"
                     /db_xref="HGNC:HGNC:14466"
                     /db_xref="MIM:614463"
ORIGIN      
        1 maglqelrfp eekpllrgqd atelessdaf llaadtdwkr sqerrlprvs stvsplqehd
       61 ietpygllhv virgspkgnr pailtyhdvg lnhklcfntf fnfedmqeit khfvvchvda
      121 pgqqvgasqf pqgyqfpsme qlaamlpsvv qhfgfkyvig igvgagayvl akfalifpdl
      181 veglvlvnid pngkgwidwa atklsgltst lpdtvlshlf sqeelvnnte lvqsyrqqig
      241 nvvnqanlql fwnmynsrrd ldinrpgtvp naktlrcpvm lvvgdnapae dgvvecnskl
      301 dpttttflkm adsgglpqvt qpgklteafk yflqgmgyia ylkdrrlsgg avpsasmtrl
      361 arsrtaslts assvdgsrpq acthsesseg lgqvnhtmev sc
//
LOCUS       XP_005256559             732 aa            linear   PRI 20-MAR-2023
DEFINITION  segment polarity protein dishevelled homolog DVL-2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_005256559
VERSION     XP_005256559.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005256502.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..732
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..732
                     /product="segment polarity protein dishevelled homolog
                     DVL-2 isoform X1"
                     /calculated_mol_wt=78437
     Region          13..93
                     /region_name="DAX"
                     /note="Domain present in Dishevelled and axin; smart00021"
                     /db_xref="CDD:197474"
     Region          125..259
                     /region_name="Dishevelled"
                     /note="Dishevelled specific domain; pfam02377"
                     /db_xref="CDD:426746"
     Region          261..348
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(273..276,278,329..330,333..334)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          420..503
                     /region_name="DEP_dishevelled"
                     /note="DEP (Dishevelled, Egl-10, and Pleckstrin) domain
                     found in dishevelled-like proteins. Dishevelled-like
                     proteins play a key role in the transduction of the Wnt
                     signal from the cell surface to the nucleus, which in turn
                     is an important regulatory pathway...; cd04438"
                     /db_xref="CDD:239885"
     Region          511..722
                     /region_name="Dsh_C"
                     /note="Segment polarity protein dishevelled (Dsh) C
                     terminal; pfam12316"
                     /db_xref="CDD:432473"
     CDS             1..732
                     /gene="DVL2"
                     /coded_by="XM_005256502.3:256..2454"
                     /db_xref="GeneID:1856"
                     /db_xref="HGNC:HGNC:3086"
                     /db_xref="MIM:602151"
ORIGIN      
        1 magsstgggg vgetkviyhl deeetpylvk ipvpaeritl gdfksvlqrp agakyffksm
       61 dqdfgvvkee isddnarlpc fngrvvswlv ssdnpqpema ppvheprael appapplppl
      121 ppertsgigd srppsfhpnv ssshenlepe tetesvvslr rerprrrdst gghrtggpsr
      181 lerhlagyes sstlmtsele stslgdsdee dtmsrfssst eqssasrllk rhrrrrkqrp
      241 prlertssfs svtdstmsln iitvtlnmek ynflgisivg qsnergdggi yigsimkgga
      301 vaadgriepg dmllqvndmn fenmsnddav rvlrdivhkp gpivltvakc wdpspqayft
      361 lprnepiqpi dpaawvshsa altgtfpayp gsssmstits gsslpdgceg rglsvhtdma
      421 svtkamaape sglevrdrmw lkitipnafl gsdvvdwlyh hvegfperre arkyasgllk
      481 aglirhtvnk itfseqcyyv fgdlsggces ylvnlslndn dgssgasdqd tlaplpgatp
      541 wpllptfsyq ypaphpyspq pppyhelssy tygggsassq hsegsrssgs trsdggagrt
      601 grpeerapes ksgsgsesep ssrggslrrg geasgtsdgg pppsrgstgg apnlrahpgl
      661 hpygpppgma lpynpmmvvm mppppppvpp avqppgappv rdlgsvppel tasrqsfhma
      721 mgnpseffvd vm
//
LOCUS       XP_047292078             887 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM37 isoform X29 [Homo sapiens].
ACCESSION   XP_047292078
VERSION     XP_047292078.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436122.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..887
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..887
                     /product="E3 ubiquitin-protein ligase TRIM37 isoform X29"
                     /calculated_mol_wt=99370
     Region          <6..21
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Region          59..98
                     /region_name="Bbox2_TRIM37_C-VIII"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein 37 (TRIM37) and similar proteins;
                     cd19779"
                     /db_xref="CDD:380837"
     Region          98..220
                     /region_name="BBC"
                     /note="B-Box C-terminal domain; smart00502"
                     /db_xref="CDD:128778"
     Region          239..372
                     /region_name="MATH_TRIM37"
                     /note="Tripartite motif containing protein 37 (TRIM37)
                     family, MATH domain; TRIM37 is a peroxisomal protein and
                     is a member of the tripartite motif (TRIM) protein
                     subfamily, also known as the RING-B-box-coiled-coil (RBCC)
                     subfamily of zinc-finger proteins; cd03773"
                     /db_xref="CDD:239742"
     Site            288
                     /site_type="active"
                     /note="Mulibrey nanism-associated mutation residue
                     [active]"
                     /db_xref="CDD:239742"
     Site            order(294,338..340)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:239742"
     CDS             1..887
                     /gene="TRIM37"
                     /gene_synonym="MUL; POB1; TEF3"
                     /coded_by="XM_047436122.1:420..3083"
                     /db_xref="GeneID:4591"
                     /db_xref="HGNC:HGNC:7523"
                     /db_xref="MIM:605073"
ORIGIN      
        1 mdeqsverwl teqraqcphc raplqlrelv ncrwaeevtq qldtlqlcsl tkheenekdk
       61 cenhheklsv fcwtckkcic hqcalwggmh gghtfkplae iyeqhvtkvn eevaklrrrl
      121 melislvqev ernveavrna kdervreirn avemmiarld tqlknklitl mgqktsltqe
      181 tellesllqe vehqlrscsk seliskssei lmmfqqvhrk pmasfvttpv ppdftselvp
      241 sydsatfvle nfstlrqrad pvyspplqvs glcwrlkvyp dgngvvrgyy lsvflelsag
      301 lpetskyeyr vemvhqscnd ptkniirefa sdfevgecwg ynrffrldll anegylnpqn
      361 dtvilrfqvr sptffqksrd qhwyitqlea aqtsyiqqin nlkerltiel srtqksrdls
      421 ppdnhlspqn ddaletrakk sacsdmlleg gpttasvrea kedeedeeki qnedyhhels
      481 dgdldldlvy edevnqldgs sssasstats nteendidee tmsgendvey nnmeleegel
      541 medaaaagpa gsshgyvgss srisrrthlc saatsslldi dplilihlld lkdrssienl
      601 wglqprppas llqptasysr kdkdqrkqqa mwrvpsdlkm lkrlktqmae vrcmktdvkn
      661 tlseiksssa asgdmqtslf sadqaalaac gtensgrlqd lgmellakss vancyirncs
      721 pgssqsgsrh sspralihgs igdilpkted rqckaldsda vvvavfsglp avekrrkmvt
      781 lganakgghl eglqmtdlen nsetgelqpv lpegasaape egmssdsdie cdteneeqee
      841 htsvggfhds fmvmtqppde dthssfpdge qigpedlsfn tdensgr
//
LOCUS       XP_016884147             600 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein EWS isoform X29 [Homo sapiens].
ACCESSION   XP_016884147
VERSION     XP_016884147.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017028658.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..600
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..600
                     /product="RNA-binding protein EWS isoform X29"
                     /calculated_mol_wt=62418
     Region          305..388
                     /region_name="RRM_EWS"
                     /note="RNA recognition motif (RRM) found in vertebrate
                     Ewing Sarcoma Protein (EWS); cd12533"
                     /db_xref="CDD:409950"
     Region          462..491
                     /region_name="zf-RanBP"
                     /note="Zn-finger in Ran binding protein and others;
                     pfam00641"
                     /db_xref="CDD:395516"
     Region          466..487
                     /region_name="RanBP2-type Zn finger"
                     /note="RanBP2-type Zn finger [structural motif]"
                     /db_xref="CDD:275375"
     Site            order(468,473,484,487)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275375"
     CDS             1..600
                     /gene="EWSR1"
                     /gene_synonym="bK984G1.4; EWS; EWS-FLI1"
                     /coded_by="XM_017028658.2:70..1872"
                     /db_xref="GeneID:2130"
                     /db_xref="HGNC:HGNC:3508"
                     /db_xref="MIM:133450"
ORIGIN      
        1 mastdystys qaaaqqgysa ytaqptqgya qttqqaygqq sygtygqptd vsytqaqtta
       61 tygqtayats ygqpptgytt ptapqaysqp vqgygtgayd tttatvtttq asyaaqsayg
      121 tqpaypaygq qpaataptsy sstqptsydq ssysqqntyg qpssygqqss ygqqssygqq
      181 pptsyppqtg sysqapsqys qqsssygqqs sfrqdhpssm gvygqesggf sgpgenrsms
      241 gpdnrgrgrg gfdrggmsrg grgggrggmg agerggfnkp ggpmdegpdl dlgppvdpde
      301 dsdnsaiyvq glndsvtldd ladffkqcgv vkmnkrtgqp mihiyldket gkpkgdatvs
      361 yedpptakaa vewfdgkdfq gsklkvslar kkppmnsmrg glppregrgm ppplrggpgg
      421 pggpggpmgr mggrggdrgg fpprgprgsr gnpsgggnvq hragdwqcpn pgcgnqnfaw
      481 rtecnqckap kpegflpppf pppggdrgrg gpggmrggrg glmdrggpgg mfrggrggdr
      541 ggfrggrgmd rggfgggrrg gpggppgplm eqmggrrggr ggpgkmdkge hrqerrdrpy
//
LOCUS       XP_047303650             718 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase MECOM isoform X20 [Homo
            sapiens].
ACCESSION   XP_047303650
VERSION     XP_047303650.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447694.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..718
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..718
                     /product="histone-lysine N-methyltransferase MECOM isoform
                     X20"
                     /calculated_mol_wt=81720
     Region          <1..16
                     /region_name="SET"
                     /note="SET (Su(var)3-9, Enhancer-of-zeste, Trithorax)
                     domain superfamily; cl40432"
                     /db_xref="CDD:394802"
     Region          23..72
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(23,26,39,72)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          77..97
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(77,80,93,97)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          101..>443
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          105..125
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(105,108,121,125)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(110,112,114,116..117,120..121,124,138,140,144..145,
                     148..149,152,167,169,171,173..174,177..178,181)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          133..154
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          162..182
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          333..452
                     /region_name="PHA00733"
                     /note="hypothetical protein"
                     /db_xref="CDD:177301"
     Region          400..422
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          402..422
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(402,405,418,422)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(407,409,411,413..414,417..418,421,435,437,441..442,
                     445..446,450,464,466,468,470..471,474..475,478)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          414..438
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          430..451
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          457..479
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          459..479
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..718
                     /gene="MECOM"
                     /gene_synonym="AML1-EVI-1; EVI1; KMT8E; MDS1; MDS1-EVI1;
                     PRDM3; RUSAT2"
                     /coded_by="XM_047447694.1:253..2409"
                     /db_xref="GeneID:2122"
                     /db_xref="HGNC:HGNC:3498"
                     /db_xref="MIM:165215"
ORIGIN      
        1 mksedyphet mapdiheerq yrcedcdqlf eskaeladhq kfpcstphsa fsmveedfqq
       61 klesendlqe ihtiqeckec dqvfpdlqsl ekhmlshtee reykcdqcpk afnwksnlir
      121 hqmshdsgkh yecencakvf tdpsnlqrhi rsqhvgarah acpecgktfa tssglkqhkh
      181 ihssvkpfis fsqsmypfpd rdlrslplkm epqspgevkk lqkgssespf dlttkrkdek
      241 pltpvpskpp vtpatsqdqp ldlsmgsrsr asgtkltepr knhvfggkkg snvesrpasd
      301 gslqharptp ffmdpiyrve krkltdplea lkekylrpsp gflfhpqmsa ienmaekles
      361 fsalkpease llqsvpsmfn frappnalpe nllrkgkery tcrycgkifp rsanltrhlr
      421 thtgeqpyrc kycdrsfsis snlqrhvrni hnkekpfkch lcdrcfgqqt nldrhlkkhe
      481 ngnmsgtats sphselestg ailddkeday fteirnfign snhgsqsprn veermngshf
      541 kdekalvtsq nsdllddeev edevlldeed ednditgktg kepvtsnlhe gnpeddyeet
      601 salemsckts pvrykeeeyk sglsaldhir hftdslkmrk mednqyseae lssfstshvp
      661 eelkqplhrk sksqayamml slsdkeslhs tshsssnvwh smaraaaess aiqsishv
//
LOCUS       XP_011511034             295 aa            linear   PRI 20-MAR-2023
DEFINITION  tumor protein p63-regulated gene 1 protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_011511034
VERSION     XP_011511034.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011512732.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Jun 6, 2016 this sequence version replaced XP_011511034.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..295
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..295
                     /product="tumor protein p63-regulated gene 1 protein
                     isoform X1"
                     /calculated_mol_wt=33475
     Region          70..190
                     /region_name="hSac2"
                     /note="Inositol phosphatase; pfam12456"
                     /db_xref="CDD:432566"
     CDS             1..295
                     /gene="TPRG1"
                     /gene_synonym="FAM79B"
                     /coded_by="XM_011512732.3:9318..10205"
                     /db_xref="GeneID:285386"
                     /db_xref="HGNC:HGNC:24759"
ORIGIN      
        1 mstigsfegf qavslkqegd dqpsetdhls meeedpmprq isrqssvtes tlypnpyhqp
       61 yisrkyfatr pgaietamed lkghvaetsg etiqgfwllt ktdplsqhqg ehldtlwnfk
      121 kidhwnneke rillvtdktl lickydfiml scvqlqripl savyriclgk ftfpgmsldk
      181 rqgeglriyw gspeeqslls rwnpwstevp yatftehpmk ytsekfleic klsgfmsklv
      241 paiqnahkns tgsgrgkklm vltepiliet ytglmsfign rnklgyslar gsigf
//
LOCUS       XP_024309440             297 aa            linear   PRI 20-MAR-2023
DEFINITION  phospholipid scramblase 2 isoform X2 [Homo sapiens].
ACCESSION   XP_024309440
VERSION     XP_024309440.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453672.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..297
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..297
                     /product="phospholipid scramblase 2 isoform X2"
                     /calculated_mol_wt=33373
     Region          86..295
                     /region_name="Scramblase"
                     /note="pfam03803"
                     /db_xref="CDD:252175"
     CDS             1..297
                     /gene="PLSCR2"
                     /coded_by="XM_024453672.2:247..1140"
                     /db_xref="GeneID:57047"
                     /db_xref="HGNC:HGNC:16494"
                     /db_xref="MIM:607610"
ORIGIN      
        1 mrswnslfcl nssrppghiv ypkhqaghtg kqadhlgsqa fypgrqhdyl vppagtagip
       61 vqnqpgrpeg vpwmpapppp lncppgleyl sqidmilihq qiellevlfs fessnmyeik
      121 nsfgqriyfa aedtnfcirn ccgrsrpftl ritdnvgrev itlerplrcn ccccpcclqe
      181 ieiqappgvp vgyvtqtwhp cltkftiknq kredvlkisg pcivcsciag vdfeitslde
      241 qivvgriskh wsgflreaft dadnfgiqfp rdldvkmkav migacflidy mffertr
//
LOCUS       XP_016864532             107 aa            linear   PRI 20-MAR-2023
DEFINITION  stAR-related lipid transfer protein 4 isoform X3 [Homo sapiens].
ACCESSION   XP_016864532
VERSION     XP_016864532.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009043.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..107
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..107
                     /product="stAR-related lipid transfer protein 4 isoform
                     X3"
                     /calculated_mol_wt=12032
     Region          <1..107
                     /region_name="SRPBCC"
                     /note="START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC)
                     ligand-binding domain superfamily; cl14643"
                     /db_xref="CDD:449340"
     CDS             1..107
                     /gene="STARD4"
                     /coded_by="XM_017009043.3:208..531"
                     /db_xref="GeneID:134429"
                     /db_xref="HGNC:HGNC:18058"
                     /db_xref="MIM:607049"
ORIGIN      
        1 mryttagqlw niisprefvd fsytvgykeg llscgisldw dekrpefvrg ynhpcgwfcv
       61 plkdnpnqsl ltgyiqtdlr gmipqsavdt amastltnfy gdlrkal
//
LOCUS       XP_047273419            1113 aa            linear   PRI 20-MAR-2023
DEFINITION  ras-specific guanine nucleotide-releasing factor 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047273419
VERSION     XP_047273419.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417463.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1113
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..1113
                     /product="ras-specific guanine nucleotide-releasing factor
                     2 isoform X1"
                     /calculated_mol_wt=126376
     Region          <1..34
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          123..304
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; smart00325"
                     /db_xref="CDD:214619"
     Site            order(126,130,227,254..255,258..259,261..262,265..266,
                     269..270,273,299)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          356..464
                     /region_name="PH"
                     /note="Pleckstrin homology domain; smart00233"
                     /db_xref="CDD:214574"
     Region          514..>562
                     /region_name="RasGEF_N"
                     /note="RasGEF N-terminal motif; pfam00618"
                     /db_xref="CDD:425781"
     Region          <777..848
                     /region_name="REM"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     GTPases; N-terminal domain (RasGef_N), also called REM
                     domain (Ras exchanger motif). This domain is common in
                     nucleotide exchange factors for Ras-like small GTPases and
                     is typically found immediately...; cl02520"
                     /db_xref="CDD:445811"
     Region          874..1110
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases; smart00147"
                     /db_xref="CDD:214539"
     Site            order(907..909,919..920,922..924,926..927,930..931,934,
                     967,970..971,973..975,977..980,982..983,1003,1006,
                     1011..1013,1016,1029..1031,1034..1036,1038..1040,
                     1042..1045,1060,1064,1098,1101..1102)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     CDS             1..1113
                     /gene="RASGRF2"
                     /gene_synonym="GRF2; RAS-GRF2"
                     /coded_by="XM_047417463.1:801..4142"
                     /db_xref="GeneID:5924"
                     /db_xref="HGNC:HGNC:9876"
                     /db_xref="MIM:606614"
ORIGIN      
        1 meaihqasya dilierevlm qkyihlvqiv etekiaanql rhqledqdte ierlkseiia
       61 lnktkermrp yqsnqededp dikkikkvqs fmrgwlcrrk wktivqdyic sphaesmrkr
      121 nqivftmvea eseyvhqlyi lvngflrplr maasskkppi shddvssifl nsetimflhe
      181 ifhqglkari anwptlilad lfdillpmln iyqefvrnhq yslqvlanck qnrdfdkllk
      241 qyeanpaceg rmletfltyp mfqipryiit lhellahtph ehverkslef akskleelsr
      301 vmhdevsdte nirknlaier mivegcdill dtsqtfirqg sliqvpsver gklskvrlgs
      361 lslkkegerq cflftkhfli ctrssggklh llktggvlsl idctlieepd asdddskgsg
      421 qvfghldfki vveppdaaaf tvvllapsrq ekaawmsdis qcvdnircng lmtivfeens
      481 kvtvphmiks darlhkddtd icfsktlnsc kvpqiryasv erllerltdl rflsidflnt
      541 flhtyriftt aavvlgklsd iykrpftsip vrslelffat sqnnrgehlv dgksprlcrk
      601 fssppplavs rtsspvrark lsltsplnsk igaldlttss spttttqspa asppphtgqi
      661 pldlsrglss peqspgtvee nvdnprvdlc nklkrsiqka vlesapadra gvesspaadt
      721 telspcrsps tprhlryrqp ggqtadnahc svspasafai ataaaghgsp pgfnntertc
      781 dkefiirrta tnrvlnvlrh wvskhaqdfe lnnelkmnvl nlleevlrdp dllpqerkaa
      841 anilralsqd dqddihlkle diiqmtdcmk aecfeslsam elaeqitlld hvifrsipye
      901 eflgqgwmkl dknertpyim ktsqhfndms nlvasqimny advssranai ekwvavadic
      961 rclhnyngvl eitsalnrsa iyrlkktwak vskqtkalmd klqktvsseg rfknlretlk
     1021 ncnppavpyl gmyltdlafi eegtpnftee glvnfskmrm ishiireirq fqqtsyridh
     1081 qpkvaqylld kdliidedtl yelslkiepr lpa
//
LOCUS       XP_011512381             169 aa            linear   PRI 20-MAR-2023
DEFINITION  39S ribosomal protein L36, mitochondrial isoform X1 [Homo sapiens].
ACCESSION   XP_011512381
VERSION     XP_011512381.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514079.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..169
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..169
                     /product="39S ribosomal protein L36, mitochondrial isoform
                     X1"
                     /calculated_mol_wt=18943
     Region          132..169
                     /region_name="Ribosomal_L36"
                     /note="Ribosomal protein L36; pfam00444"
                     /db_xref="CDD:425686"
     CDS             1..169
                     /gene="MRPL36"
                     /gene_synonym="BRIP1; L36mt; MRP-L36; PRPL36; RPMJ"
                     /coded_by="XM_011514079.2:100..609"
                     /db_xref="GeneID:64979"
                     /db_xref="HGNC:HGNC:14490"
                     /db_xref="MIM:611842"
ORIGIN      
        1 mrpkfklpps qvsgsstsqg fahsptlaag gkgkeatvhc plfswhtwli kavfklrsrl
       61 qlihhnmanl firkmvnpll ylsrhtvkpr alstflfgsi rgaapvavep gaavrsllsp
      121 gllphllpal gfknktvlkk rckdcylvkr rgrwyvyckt hprhkqrqm
//
LOCUS       XP_047275831             583 aa            linear   PRI 20-MAR-2023
DEFINITION  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3
            isoform X10 [Homo sapiens].
ACCESSION   XP_047275831
VERSION     XP_047275831.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419875.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 27% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..583
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..583
                     /product="arf-GAP with GTPase, ANK repeat and PH
                     domain-containing protein 3 isoform X10"
                     /calculated_mol_wt=62667
     Region          308..461
                     /region_name="Centaurin_gamma"
                     /note="Centaurin gamma (CENTG) GTPase; cd04103"
                     /db_xref="CDD:133303"
     Site            314..321
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:133303"
     Site            order(316..322,360,363,414..415,417,447..448)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:133303"
     Site            335..343
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:133303"
     Site            338
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:133303"
     Site            360..363
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:133303"
     Site            362..375
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:133303"
     Site            414..417
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:133303"
     Site            447..449
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:133303"
     CDS             1..583
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /coded_by="XM_047419875.1:134..1885"
                     /db_xref="GeneID:116988"
                     /db_xref="HGNC:HGNC:16923"
                     /db_xref="MIM:616813"
ORIGIN      
        1 mergwpqgds cpgerpaacr rahsvcdsld lhgasagraa aalqaalcaa seqparprsv
       61 csggpepppt garglllgll rprlgrrgla psgppvspap spasspaptr rsrtrgeptp
      121 rprpasmtfl evnrlelaaa eapgaglgra gsagflrgaa lwssqrwpvl rggrgpegpr
      181 rglaalrksf sfrlrrgqev rrsesgllar pprartrsdg dagslgafps rrdllgsdap
      241 raapepgrpr taaglwrllt srfrrrepap aaplwgrraa aapellraps dsfvnsqewt
      301 lsrsvpelkv givgnlssgk salvhryltg tyvqeespeg grfkkeivvd gqsylllird
      361 eggppelqfa awvdavvfvf sledeisfqt vynyflrlcs frnasevpmv lvgtqdaisa
      421 anprviddsr arklstdlkr ctyyetcaty glnvervfqd vgiidsavpc sgpegsglak
      481 eaatghralq vtaqlaqplg rvrrlhpgra hqpghewrrq rlqrllvlsp lhpqhqpaga
      541 ahrdhrcllh phthpkavqa alqhlhanep aagrlfaqgd teg
//
LOCUS       XP_047277730            1001 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein 12B isoform X1 [Homo sapiens].
ACCESSION   XP_047277730
VERSION     XP_047277730.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421774.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1001
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1001
                     /product="RNA-binding protein 12B isoform X1"
                     /calculated_mol_wt=117972
     Region          2..80
                     /region_name="RRM1_RBM12B"
                     /note="RNA recognition motif 1 (RRM1) found in RNA-binding
                     protein 12B (RBM12B) and similar proteins; cd12744"
                     /db_xref="CDD:410139"
     Region          153..238
                     /region_name="RRM2_RBM12B"
                     /note="RNA recognition motif 2 (RRM2) found in RNA-binding
                     protein 12B (RBM12B) and similar proteins; cd12746"
                     /db_xref="CDD:410140"
     Region          284..363
                     /region_name="RRM3_RBM12B"
                     /note="RNA recognition motif 3 (RRM3) found in RNA-binding
                     protein 12B (RBM12B) and similar proteins; cd12513"
                     /db_xref="CDD:409935"
     Region          400..475
                     /region_name="RRM4_RBM12B"
                     /note="RNA recognition motif 4 (RRM4) found in RNA-binding
                     protein 12B (RBM12B) and similar proteins; cd12748"
                     /db_xref="CDD:410142"
     Region          <449..680
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          <689..915
                     /region_name="PHA03321"
                     /note="tegument protein VP11/12; Provisional"
                     /db_xref="CDD:223041"
     Region          925..1001
                     /region_name="RRM5_RBM12B"
                     /note="RNA recognition motif 5 (RRM5) found in RNA-binding
                     protein 12B (RBM12B) and similar proteins; cd12750"
                     /db_xref="CDD:410144"
     CDS             1..1001
                     /gene="RBM12B"
                     /gene_synonym="MGC:33837"
                     /coded_by="XM_047421774.1:1143..4148"
                     /db_xref="GeneID:389677"
                     /db_xref="HGNC:HGNC:32310"
ORIGIN      
        1 mavvirllgl pfiagpvdir hfftgltipd ggvhiiggei geafiifatd edarraisrs
       61 ggfikdssve lflsskaemq ktiemkrtdr vgrgrpgsgt sgvdslsnfi esvkeeasns
      121 gygssinqda gfhtngtghg nlrprktrpl kaenpylflr glpylvnedd vrvffsglcv
      181 dgviflkhhd grnngdaivk fascvdasgg lkchrsfmgs rfievmqgse qqwiefggna
      241 vkegdvlrrs eehspprgin drhfrkrshs ksprrtrsrs plgfyvhlkn lslsiderdl
      301 rnffrgtdlt deqirflykd enrtryafvm fktlkdynta lslhktvlqy rpvhidpisr
      361 kqmlkfiary ekkrsgsler drpghvsqky sqegnsgqkl ciyirnfpfd vtkvevqkff
      421 adfllaeddi yllyddkgvg lgealvkfks eeqamkaerl nrrrflgtev llrliseaqi
      481 qefgvnfsvm ssekmqarsq srergdhshl fdskdppiys vgafenfrhq ledlrqldnf
      541 khpqrdfrqp drhppedfrh ssedfrfppe dfrhspedfr rpreedfrrp seedfrrpwe
      601 edfrrppedd frhpreedwr rpleedwrrp leedfrrspt edfrqlpeed frqppeedlr
      661 wlpeedfrrp peedwrrppe edfrrplqge wrrppeddfr rppeedfrhs peedfrqspq
      721 ehfrrppqeh frrpppehfr rpppehfrrp ppehfrrppp ehfrrpppeh frrpppehfr
      781 rppqehfrrp pqehfrrsre edfrhppded frgppdedfr hppdedfrsp qeedfrcpsd
      841 edfrqlpeed lreapeedpr lpdnfrppge dfrsppddfr shrpfvnfgr peggkfdfgk
      901 hnmgsfpegr fmpdpkincg sgrvtpikim nlpfkanvne ildffhgyri ipdsvsiqyn
      961 eqglptgeai vaminyneam aaikdlndrp vgprkvkltl l
//
LOCUS       XP_047277734             191 aa            linear   PRI 20-MAR-2023
DEFINITION  sterile alpha motif domain-containing protein 12 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047277734
VERSION     XP_047277734.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421778.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..191
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..191
                     /product="sterile alpha motif domain-containing protein 12
                     isoform X1"
                     /calculated_mol_wt=21701
     Region          72..136
                     /region_name="SAM_superfamily"
                     /note="SAM (Sterile alpha motif); cl15755"
                     /db_xref="CDD:449586"
     CDS             1..191
                     /gene="SAMD12"
                     /coded_by="XM_047421778.1:148..723"
                     /db_xref="GeneID:401474"
                     /db_xref="HGNC:HGNC:31750"
                     /db_xref="MIM:618073"
ORIGIN      
        1 mavealhcgl nprgidhpah aegiklqieg egvesqsikn knfqkvpdqk gtpkrlqaea
       61 etaksatvkl skpvalwtqq dvckwlkkhc pnqyqiyrra llrltdkkle rmgiaqenlr
      121 qhilqqvlql kvreevrnlq lltqgtlllp dgwmdgeirr kttlllgqtg vrenlllflh
      181 risiiensiq i
//
LOCUS       XP_047277845            3406 aa            linear   PRI 20-MAR-2023
DEFINITION  plectin isoform X31 [Homo sapiens].
ACCESSION   XP_047277845
VERSION     XP_047277845.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421889.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3406
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..3406
                     /product="plectin isoform X31"
                     /calculated_mol_wt=384207
     Region          13..140
                     /region_name="CH_DYST_rpt1"
                     /note="first calponin homology (CH) domain found in
                     dystonin and similar proteins; cd21236"
                     /db_xref="CDD:409085"
     Site            order(30,34,84,86..87,90..91,93,102..110,115,117..118,
                     120..121,124..125,128)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409085"
     Region          144..249
                     /region_name="CH_PLEC_rpt2"
                     /note="second calponin homology (CH) domain found in
                     plectin and similar proteins; cd21238"
                     /db_xref="CDD:409087"
     Site            order(146,150,200,202..203,206..207,209,218..226,233,
                     235..236,238..239,242..243,246)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409087"
     Site            order(174,177,197..200,202..203)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:409087"
     Region          508..697
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          604..793
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            707..712
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          779..845
                     /region_name="SH3_10"
                     /note="SH3 domain; pfam17902"
                     /db_xref="CDD:407754"
     Region          880..957
                     /region_name="Spectrin_like"
                     /note="Spectrin like domain; pfam18373"
                     /db_xref="CDD:436447"
     Region          956..>1381
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          1088..1278
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1191..1196
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1550..1588
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          1588..1626
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          1625..1661
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          1664..1702
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          1916..1954
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          1953..1989
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          1992..2030
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          2209..2243
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          2253..2285
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          2284..2315
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          2323..2361
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          2544..2579
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          2582..2620
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          2619..2655
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          2658..2696
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          2785..2822
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          2825..2863
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          2862..2893
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          2901..2939
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          <3002..3030
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3134..3167
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          3170..3208
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3246..3284
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     CDS             1..3406
                     /gene="PLEC"
                     /gene_synonym="EBS1; EBS5A; EBS5B; EBS5C; EBS5D; EBSMD;
                     EBSND; EBSO; EBSOG; EBSPA; HD1; LGMD2Q; LGMDR17; PCN;
                     PLEC1; PLEC1b; PLTN"
                     /coded_by="XM_047421889.1:58..10278"
                     /db_xref="GeneID:5339"
                     /db_xref="HGNC:HGNC:9069"
                     /db_xref="MIM:601282"
ORIGIN      
        1 magplpdeqd fiqayeevre kykderdrvq kktftkwvnk hlikaqrhis dlyedlrdgh
       61 nlisllevls gdslprekgr mrfhklqnvq ialdylrhrq vklvnirndd iadgnpkltl
      121 gliwtiilhf qisdiqvsgq sedmtakekl llwsqrmveg yqglrcdnft sswrdgrlfn
      181 aiihrhkpll idmnkvyrqt nlenldqafs vaerdlgvtr lldpedvdvp qpdeksiity
      241 vsslydampr vpdvqdgvra nelqlrwqey relvllllqw mrhhtaafee rrfpssfeei
      301 eilwsqflkf kemelpakea dknrskgiyq slegavqagq lkvppgyhpl dvekewgklh
      361 vailerekql rseferlecl qrivtklqme aglceeqlnq adallqsdvr llaagkvpqr
      421 ageverdldk adsmirllfn dvqtlkdgrh pqgeqmyrrv yrlherlvai rteynlrlka
      481 gvaapatqva qvtlqsvqrr peledstlry lqdllawvee nqhrvdgaew gvdlpsveaq
      541 lgshrglhqs ieefrakier arsdegqlsp atrgayrdcl grldlqyakl lnsskarlrs
      601 leslhsfvaa atkelmwlne keeeevgfdw sdrntnmtak kesysalmre lelkekkike
      661 lqnagdrllr edhparptve sfqaalqtqw swmlqlccci eahlkenaay fqffsdvrea
      721 egqlqklqea lrrkyscdrs atvtrledll qdaqdekeql neykghlsgl akrakavvql
      781 kprhpahpmr grlpllavcd ykqvevtvhk gdecqlvgpa qpshwkvlss sgseaavpsv
      841 cflvpppnqe aqeavtrlea qhqalvtlwh qlhvdmksll awqslrrdvq lirswslatf
      901 rtlkpeeqrq alhslelhyq aflrdsqdag gfgpedrlma ereygscshh yqqllqsleq
      961 gaqeesrcqr ciselkdirl qleacetrtv hrlrlpldke parecaqria eqqkaqaeve
     1021 glgkgvarls aeaekvlalp epspaaptlr seleltlgkl eqvrslsaiy leklktislv
     1081 irgtqgaeev lraheeqlke aqavpatlpe leatkaslkk lraqaeaqqp tfdalrdelr
     1141 gaqevgerlq qrhgerdvev erwrervaql lerwqavlaq tdvrqreleq lgrqlryyre
     1201 sadplgawlq darrrqeqiq ampladsqav reqlrqeqal leeierhgek veecqrfakq
     1261 yinaikdyel qlvtykaqle pvaspakkpk vqsgsesviq eyvdlrthys elttltsqyi
     1321 kfisetlrrm eeeemqtvqq eqllqetqal qqsflsekds llqrerfieq ekakleqlfq
     1381 devakaqqlr eeqqrqqqqm eqerqrlvas meearrrqhe aeegvrrkqe elqqleqqrr
     1441 qqeellaeen qrlreqlqll eeqhraalah seevtasqva atktlpngrd aldgpaaeae
     1501 pehsfdglrr kvsaqrlqea gilsaeelqr laqghttvde larredvrhy lqgrssiagl
     1561 llkatnekls vyaalqrqll spgtalille aqaasgflld pvrnrrltvn eavkegvvgp
     1621 elhhkllsae ravtgykdpy tgqqislfqa mqkglivreh girlleaqia tggvidpvhs
     1681 hrvpvdvayr rgyfdeemnr vladpsddtk gffdpnthen ltylqllerc vedpetglcl
     1741 lpltdkaakg gelvytdsea rdvfekatvs apfgkfqgkt vtiweiinse yftaeqrrdl
     1801 lrqfrtgrit vekiikiiit vveeqeqkgr lcfeglrslv paaellesrv idrelyqqlq
     1861 rgersvrdva evdtvrralr ganviagvwl eeagqklsiy nalkkdllps dmavalleaq
     1921 agtghiidpa tsarltvdea vraglvgpef hekllsaeka vtgyrdpytg qsvslfqalk
     1981 kglipreqgl rlldaqlstg givdpskshr vpldvacarg cldeetsral sapradakay
     2041 sdpstgepat ygelqqrcrp dqltglsllp lsekaararq eelyselqar etfektpvev
     2101 pvggfkgrtv tvwelissey ftaeqrqell rqfrtgkvtv ekvikiliti veevetlrqe
     2161 rlsfsglrap vpasellasg vlsraqfeql kdgkttvkdl selgsvrtll qgsgclagiy
     2221 ledtkekvsi yeamrrgllr attaalllea qaatgflvdp vrnqrlyvhe avkagvvgpe
     2281 lheqllsaek avtgyrdpys gstislfqam qkglvlrqhg irlleaqiat ggiidpvhsh
     2341 rvpvdvayqr gyfseemnrv ladpsddtkg ffdpnthenl tyrqllercv edpetglrll
     2401 plkgaekaev vettqvytee etrrafeetq idipgggshg gstmslwevm qsdlipeeqr
     2461 aqlmadfqag rvtkermiii iieiiektei irqqglasyd yvrrrltaed lfeariisle
     2521 tynllregtr slrealeaes awcylygtgs vagvylpgsr qtlsiyqalk kgllsaevar
     2581 llleaqaatg flldpvkger ltvdeavrkg lvgpelhdrl lsaeravtgy rdpyteqtis
     2641 lfqamkkeli pteealrlld aqlatggivd prlgfhlple vayqrgylnk dthdqlseps
     2701 evrsyvdpst derlsytqll rrcrrddgtg qlllplsdar kltfrglrkq itmeelvrsq
     2761 vmdeatalql regltsieev tknlqkfleg tsciagvfvd atkerlsvyq amkkgiirpg
     2821 tafelleaqa atgyvidpik glkltveeav rmgivgpefk dkllsaerav tgykdpysgk
     2881 lislfqamkk glilkdhgir lleaqiatgg iidpeeshrl pvevaykrgl fdeemneilt
     2941 dpsddtkgff dpnteenlty lqlmercitd pqtglcllpl kekkrerkts skssvrkrrv
     3001 vivdpetgke msvyeayrkg lidhqtylel seqeceweei tisssdgvvk smiidrrsgr
     3061 qydiddaiak nlidrsaldq yragtlsite fadmlsgnag gfrsrsssvg ssssypispa
     3121 vsrtqlasws dpteetgpva gildtetlek vsiteamhrn lvdnitgqrl leaqactggi
     3181 idpstgerfp vtdavnkglv dkimvdrinl aqkafcgfed prtktkmsaa qalkkgwlyy
     3241 eagqrflevq yltggliepd tpgrvpldea lqrgtvdart aqklrdvgay skyltcpktk
     3301 lkisykdald rsmveegtgl rlleaaaqst kgyyspysvs gsgstagsrt gsrtgsrags
     3361 rrgsfdatgs gfsmtfssss ysssgygrry asgssaslgg pesava
//
LOCUS       XP_047280055             498 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine deaminase isoform X2 [Homo sapiens].
ACCESSION   XP_047280055
VERSION     XP_047280055.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424099.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..498
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..498
                     /product="guanine deaminase isoform X2"
                     /calculated_mol_wt=56280
     Region          13..470
                     /region_name="GDEase"
                     /note="Guanine deaminase (GDEase). Guanine deaminase is an
                     aminohydrolase responsible for the conversion of guanine
                     to xanthine and ammonia, the first step to utilize guanine
                     as a nitrogen source. This reaction also removes the
                     guanine base from the pool and...; cd01303"
                     /db_xref="CDD:238628"
     Site            order(82,84,278,281,317,368)
                     /site_type="active"
                     /db_xref="CDD:238628"
     CDS             1..498
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /coded_by="XM_047424099.1:121..1617"
                     /db_xref="GeneID:9615"
                     /db_xref="HGNC:HGNC:4212"
                     /db_xref="MIM:139260"
ORIGIN      
        1 mcaaqmppla hifrgtfvhs twtcpmevlr dhllgvsdsg kivfleeasq qeklakewcf
       61 kpceirelsh heffmpglvd thihasqysf agssidlpll ewltkytfpa ehrfqnidfa
      121 eevytrvvtl ellmsvlvkk tlffhkggnm eckqpsqghv annrqnrrtl kngtttacyf
      181 atihtdssll laditdkfgq rafvgkvcmd lndtfpeyke tteesikete rfvsemlqkn
      241 ysrvkpivtp rfslscsetl mgelgniakt rdlhiqshis enrdeveavk nlypsyknyt
      301 svydknnllt nktvmahgcy lsaeelnvfh ergasiahcp nsnlslssgf lnvlevlkhe
      361 vkiglgtdva ggysysmlda irravmvsni llinkvneks ltlkevfrla tlggsqalgl
      421 dgeignfevg kefdailinp kasdspidlf ygdffgdise aviqkflylg kkqftyqpph
      481 pilhhflnvp wyfqrntl
//
LOCUS       XP_054186108             943 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family M member 1 isoform X6
            [Homo sapiens].
ACCESSION   XP_054186108
VERSION     XP_054186108.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330133.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187663.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..943
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31-21.32"
     Protein         1..943
                     /product="pleckstrin homology domain-containing family M
                     member 1 isoform X6"
                     /calculated_mol_wt=105090
     CDS             1..943
                     /gene="PLEKHM1"
                     /gene_synonym="AP162; B2; OPTA3; OPTB6"
                     /coded_by="XM_054330133.1:883..3714"
                     /db_xref="GeneID:9842"
                     /db_xref="HGNC:HGNC:29017"
                     /db_xref="MIM:611466"
ORIGIN      
        1 mvecfesggt rlslssfnvs cdslreqlre wrcfqwwrmd wtprlpsrhi iselehltfv
       61 ntdvgrcraw lrlalndglm ecylklllqe qarlheyyqp tallrdaeeg efllsflqgl
      121 tslsfelsyk sailnewtlt plalsglcpl seldplstsg aelqrkesld sishssgsed
      181 ievhhsghki rrnqkltass lsldtasssq lscslnsdsc llqengsksp dhceepmscd
      241 sdlgtanaed sdrslqevll efskaqvnsv ptnglsqete iptpqaslsl hglntstylh
      301 ceapaeplpa qaasgtqdgv hvqeprpqap spldlqqpve stsgqqpsst vsetarevgq
      361 gnglqkaqah dgaglklvvs sptspknksw iseddfyrps reqplesasd hpiasyrgtp
      421 gsrpglhrhf sqeprkncsl galdqacvps pgrrqaqaap sqghksfrvv hrrqmglsnp
      481 frglmklgtv errgamgiwk elfcelsple frlylsneeh tcvencsllr cesvgpahsd
      541 grfelvfsgk klalrassqd eaedwldrvr ealqkvrpqq edewvnvqyp dqpeeppeap
      601 qgclspsdll sepaalqgtq fdwssaqvpe pdaikeslly lymdrtwmpy ifslslealk
      661 cfrirnnekm lsdshgveti rdilpdtslg gpsffkiita kavlklqagn aeeaalwrdl
      721 vrkvlasyle taeeavtlgg sldencqevl kfatrengfl lqylvaipme kgldsqgcfc
      781 agcsrqigfs fvrpklcafs glyycdichq ddasvipari ihnwdltkrp icrqalkflt
      841 qiraqplinl qmvnaslyeh vermhligrr reqlkllgdy lglcrsgalk elskrlnhrn
      901 yllesphrfs vadlqqiadg vyegfllalr rsqtgcmkds srp
//
LOCUS       XP_054186784             279 aa            linear   PRI 20-MAR-2023
DEFINITION  HLA class II histocompatibility antigen, DQ beta 2 chain isoform
            X12 [Homo sapiens].
ACCESSION   XP_054186784
VERSION     XP_054186784.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330809.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167247.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..279
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..279
                     /product="HLA class II histocompatibility antigen, DQ beta
                     2 chain isoform X12"
                     /calculated_mol_wt=31278
     CDS             1..279
                     /gene="HLA-DQB2"
                     /gene_synonym="DQB2; HLA-DQB1; HLA-DXB"
                     /coded_by="XM_054330809.1:51..890"
                     /db_xref="GeneID:3120"
                     /db_xref="HGNC:HGNC:4945"
                     /db_xref="MIM:615161"
ORIGIN      
        1 mswkmalqip ggfwaaavtv mlvmlstpva eardfpkdfl vqfkgmcyft ngtervrgva
       61 ryiynreeyg rfdsdvgefq avtelgrsie dwnnykdfle qeraavdkvc rhnyeaelrt
      121 tlqrqveptv tispsrteal nhhnllvcsv tdfypaqikv qwfrndqeet agvvstslir
      181 ngdwtfqilv mleitpqrgd iytcqvehps lqspitvewr aqsesaqskm lggvggfvlg
      241 liflglglii rhrgqkgprg pppagnisam iqsgeraqa
//
LOCUS       XP_054189728             954 aa            linear   PRI 20-MAR-2023
DEFINITION  inaD-like protein isoform X20 [Homo sapiens].
ACCESSION   XP_054189728
VERSION     XP_054189728.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054333753.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..954
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..954
                     /product="inaD-like protein isoform X20"
                     /calculated_mol_wt=104887
     CDS             1..954
                     /gene="PATJ"
                     /gene_synonym="Cipp; hINADL; InaD-like; INADL"
                     /coded_by="XM_054333753.1:112..2976"
                     /db_xref="GeneID:10207"
                     /db_xref="HGNC:HGNC:28881"
                     /db_xref="MIM:603199"
ORIGIN      
        1 mpenpatdkl qvlqvldrlk mklqekgdts qneklsmfye tlksplfnqi ltlqqsikql
       61 kgqlnhipsd csanfdfsrk gllvftdgsi tngnvhrpsn nstvsglfpw tpklgnedfn
      121 sviqqmaqgr qieyidierp stgglgfsvv alrsqnlgkv difvkdvqpg svadrdqrlk
      181 endqilainh tpldqnishq qaiallqqtt gslrlivare pvhtksstss slndttlpet
      241 vcwghveeve lindgsglgf givggktsgv vvrtivpggl adrdgrlqtg dhilkiggtn
      301 vqgmtseqva qvlrncgnsv rmlvardpag disvtppapa alpvalptva skgpgsdssl
      361 fetynvelvr kdgqslgiri vgyvgtshtg easgiyvksv ipgsaayhng hiqvndkiva
      421 vdgvniqgfa nhdvvevlrn agqvvhltlv rrktssstsp leppsdrgtv veplkppalf
      481 ltgavetetn vdgedeeike ridtlkndni qaleklekvp dspenelksr wenllgpdye
      541 vmvatldtqi addaelqkys kllpihtlrl gvevdsfdgh hyissivsgg pvdtlgllqp
      601 edellevngm qlygksrrea vsflkevppp ftlvccrrlf ddeasvdepr rtetslpete
      661 vdhnmdvnte edddgelalw spevkivelv kdckglgfsi ldyqdpldpt rsvivirslv
      721 adgvaersgg llpgdrlvsv neycldntsl aeaveilkav ppglvhlgic kplvedneee
      781 scyilhsssn edktefsgti hdinsslile apkgfrdepy fkeelvdepf ldlgksfhsq
      841 qkeieqskea wemhefltpr lqemdeerem lvdeeyelyq dpspsmelyp lshiqeatpv
      901 psvnelhfgt qwlhdnepse sqeartgrtv ysqeaqpygy cpenvmefhs ccsg
//
LOCUS       XP_054192413             319 aa            linear   PRI 20-MAR-2023
DEFINITION  potassium voltage-gated channel subfamily C member 4 isoform X4
            [Homo sapiens].
ACCESSION   XP_054192413
VERSION     XP_054192413.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336438.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..319
                     /product="potassium voltage-gated channel subfamily C
                     member 4 isoform X4"
                     /calculated_mol_wt=34067
     CDS             1..319
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /coded_by="XM_054336438.1:1187..2146"
                     /db_xref="GeneID:3749"
                     /db_xref="HGNC:HGNC:6236"
                     /db_xref="MIM:176265"
ORIGIN      
        1 missvcvssy rgrksgnkpp sktclkeema kgeasekiii nvggtrhety rstlrtlpgt
       61 rlawladpdg ggrpetdggg vgssgssggg gcefffdrhp gvfayvlnyy rtgklhcpad
      121 vcgplfeeel tfwgidetdv epccwmtyrq hrdaeealdi fespdgggsg agpsdeagdd
      181 erelalqrlg pheggaghga gsggcrgwqp rmwalfedpy ssraartlsr mamptqcclm
      241 rrelaspnpw ppprpprsag pcdapplete trrqlpascs algtmpapmv vsgkrpaktp
      301 srptmprlks spslkaapt
//
LOCUS       XP_054226144             462 aa            linear   PRI 20-MAR-2023
DEFINITION  BTB/POZ domain-containing protein 10 isoform X4 [Homo sapiens].
ACCESSION   XP_054226144
VERSION     XP_054226144.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370169.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..462
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..462
                     /product="BTB/POZ domain-containing protein 10 isoform X4"
                     /calculated_mol_wt=52312
     CDS             1..462
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /coded_by="XM_054370169.1:237..1625"
                     /db_xref="GeneID:84280"
                     /db_xref="HGNC:HGNC:21445"
                     /db_xref="MIM:615933"
ORIGIN      
        1 mslhgasggh ersrdrrrss drsrdssher tesqltpcir nvtsptrqhh verekdhsss
       61 rpssprpqka spngsissag nssrnssqss sdgscktage mvfvyenake garnirtser
      121 vtlivdntrf vvdpsiftaq pntmlgrmfg sgrehnftrp nekgeyevae gigstvfrai
      181 ldyyktgiir cpdgisipel reacdylcis feystikcrd lsalmhelsn dgarrqfefy
      241 leemilplmv asaqsgerec hivvltdddv vdwdeeyppq mgeeysqihl lreitqpere
      301 karnvhqsns lkfsahleds tcfiystkly rffkyienrd vaksvlkerg lkkirlgieg
      361 yptykekvkk rpggrpeviy nyvqrpfirm swekeegksr hvdfqcvksk sitnlaaaaa
      421 dipqdqlvvm hptpqvdeld ilpihppsgn sdldpdaqnp ml
//
LOCUS       XP_054228265            1450 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylinositol 3-kinase C2 domain-containing subunit gamma
            isoform X4 [Homo sapiens].
ACCESSION   XP_054228265
VERSION     XP_054228265.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372290.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1450
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1450
                     /product="phosphatidylinositol 3-kinase C2
                     domain-containing subunit gamma isoform X4"
                     /calculated_mol_wt=165913
     CDS             1..1450
                     /gene="PIK3C2G"
                     /gene_synonym="PI3K-C2-gamma; PI3K-C2GAMMA"
                     /coded_by="XM_054372290.1:182..4534"
                     /db_xref="GeneID:5288"
                     /db_xref="HGNC:HGNC:8973"
                     /db_xref="MIM:609001"
ORIGIN      
        1 mayswqtdpn pneshekqye hqeflfvnqp hsssqvslgf dqivdeisgk iphyeseide
       61 ntffvptapk wdstghslne ahqislneft sksrelswhq vskapaigfs psvlpkpqnt
      121 nkecswgsig khhgaddsrf silalsftsl dkinlekele nenhnyhigf essipptnss
      181 fssdfmpkee nkrsghvniv epslmllkgs lqpgmwestw qkniesigcs iqlvevpqss
      241 ntslasfcnk vkkireryha advnfnsgki wstttafpyq lfsktkfnih ifidnstqpl
      301 hfmpcanylv kdliaeilhf ctndqllpkd hilsvcgsee flqndhclgs hkmfqkdksv
      361 iqlhlqksre apgklsrkhe edhsqfylnq llefmhiwkv srqclltlir kydfhlkyll
      421 ktqenvynii eevkkicsvl gcvetkqitd avnelslilq rkgenfyqss etsakgliek
      481 vttelstsiy qlinvycnsf yadfqpvnvp rctsylnpgl pshlsftvya ahnipetwvh
      541 rinfpleiks lpresmltvk lfgiacatnn anllawtclp lfpkeksilg smlfsmtlqs
      601 eppvemitpg vwdvsqpspv tlqidfpatg weymkpdsee nrsnleeplk ecikhiarls
      661 qkqtplllse ekkrylwfyr fycnnencsl plvlgsapgw dertvsemht ilrrwtfsqp
      721 lealglltss fpdqeirkva vqqldnllnd elleylpqlv qavkfewnle splvqlllhr
      781 slqsiqvahr lywllknaen eayfkswyqk llaalqfcag kalndefske qklikilgdi
      841 gervksasdh qrqevlkkei grleeffqdv ntchlplnpa lcikgidhda csyftsnalp
      901 lkitfinanp mgknisiifk agddlrqdml vlqliqvmdn iwlqegldmq miiyrclstg
      961 kdqglvqmvp davtlakihr hsgligplke ntikkwfsqh nhlkadyeka lrnffyscag
     1021 wcvvtfilgv cdrhndniml tksghmfhid fgkflghaqt fggikrdrap fiftsemeyf
     1081 iteggknpqh fqdfvelccr ayniirkhsq lllnllemml yaglpelsgi qdlkyvynnl
     1141 rpqdtdleat shftkkikes lecfpvklnn lihtlaqmsa ispakstsqt fpqescllst
     1201 trsieratil gfskkssnly liqvthsnne tslteksfeq fsklhsqlqk qfasltlpef
     1261 phwwhlpftn sdhrrfrdln hymeqilnvs hevtnsdcvl sfflseavqq tveesspvyl
     1321 gekfpdkkpk vqlvisyedv kltilvkhmk nihlpdgsap sahvefyllp ypsevrrrkt
     1381 ksvpkctdpt yneimgslsp tlkcslevld ashhptsask lagttvtcyh iwvicfgfcl
     1441 fvclsaqcfi
//
LOCUS       XP_054229640            1229 aa            linear   PRI 20-MAR-2023
DEFINITION  liprin-alpha-2 isoform X20 [Homo sapiens].
ACCESSION   XP_054229640
VERSION     XP_054229640.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373665.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1229
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1229
                     /product="liprin-alpha-2 isoform X20"
                     /calculated_mol_wt=139945
     CDS             1..1229
                     /gene="PPFIA2"
                     /coded_by="XM_054373665.1:182..3871"
                     /db_xref="GeneID:8499"
                     /db_xref="HGNC:HGNC:9246"
                     /db_xref="MIM:603143"
ORIGIN      
        1 mmcevmptin edtpmsqrgs qssgsdsdsh feqlmvnmld erdrlldtlr etqeslslaq
       61 qrlqdviydr dslqrqlnsa lpqdiesltg glagskgadp pefaaltkel nacreqllek
      121 eeeiselkae rnntrllleh leclvsrher slrmtvvkrq aqspsgvsse vevlkalksl
      181 fehhkaldek vrerlrvsle rvsaleeela aanqeivalr eqnvhiqrkm assegstese
      241 hlegmepgqk vhekrlsngs idstdetsqi velqellekq nyemaqmker laalssrvge
      301 veqeaetark dlikteemnt kyqrdiream aqkedmeeri ttlekrylsa qrestsihdm
      361 ndklenelan keailrqmee knrqlqerle laeqklqqtm rkaetlpeve aelaqriaal
      421 tkaeerhgni eermrhlegq leeknqelqr arqrekmnee hnkrlsdtvd rlltesnerl
      481 qlhlkermaa leeknvliqe setfrknlee slhdkerlae eieklrseld qlkmrtgsli
      541 eptiprthld tsaelrysvg slvdsqsdyr ttkvirrprr grmgvrrdep kvkslgdhew
      601 nrtqqigvls shpfesdtem sdiddddret ifssmdllsp sghsdaqtla mmlqeqldai
      661 nkeirliqee kestelraee ienrvasvsl eglnlarvhp gtsitasvta sslassspps
      721 ghstpkltpr sparemdrmg vmtlpsdlrk hrrkiavvee dgredkatik cetsppptpr
      781 alrmthtlps syhndarssl svslepeslg lgsanssqds lhkapkkkgi kssigrlfgk
      841 kekarlgqlr gfmeteaaaq eslglgklgt qaekdrrlkk ntsghellee arrkglpfaq
      901 wdgptvvawl elwlgmpawy vaacranvks gaimsalsdt eiqreigisn plhrlklrla
      961 iqemvsltsp sapptsrtke seegswaqcp vflqtlaygd mnhewignew lpslglpqyr
     1021 syfmeclvda rmldhltkkd lrvhlkmvds fhrtslqygi mclkrlnydr kelerrreas
     1081 qheikdvlvw sndrvirwiq aiglreyann ilesgvhgsl ialdenfdys slalllqipt
     1141 qntqarqile reynnllalg terrldesdd knfrrgstwr rqfpprevhg ismmpgsset
     1201 lpagfrlttt sgqsrkmttd dgvfsvyst
//
LOCUS       XP_054229757             646 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-T1 isoform X1 [Homo sapiens].
ACCESSION   XP_054229757
VERSION     XP_054229757.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373782.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..646
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..646
                     /product="cyclin-T1 isoform X1"
                     /calculated_mol_wt=70997
     CDS             1..646
                     /gene="CCNT1"
                     /gene_synonym="CCNT; CYCT1; HIVE1"
                     /coded_by="XM_054373782.1:327..2267"
                     /db_xref="GeneID:904"
                     /db_xref="HGNC:HGNC:1599"
                     /db_xref="MIM:143055"
ORIGIN      
        1 msvapaalfl aakveeqpkk lehvikvaht clhpqeslpd trseaylqqv qdlvilesii
       61 lqtlgfelti dhphthvvkc tqlvraskdl aqtsyfmatn slhlttfslq ytppvvacvc
      121 ihlackwsnw eipvstdgkh wweyvdatvt lelldelthe flqilektpn rlkriwnwra
      181 ceaakktkad drgtdektse qtilnmisqs ssdttiaglm smststtsav pslpvseess
      241 snltsvemlp gkrwlssqps fkleptqghr tsenlaltgv dhslpqdgsn afisqkqnsk
      301 svpsakvslk eyrakhaeel aaqkrqlenm eanvksqyay aaqnllshhd shssvilkmp
      361 iegsenperp flekadktal kmripvaggd kaasskpeei kmrikvhaaa dkhnsvedsv
      421 tksrehkekh kthpsnhhhh hnhhshkhsh sqlpvgtgnk rpgdpkhssq tsnlahktys
      481 lsssfsssss trkrgpseet ggavfdhpak iakstksssl nfsfpslptm gqmpghssdt
      541 sglsfsqpsc ktrvphskld kgptganghn ttqtidyqdt vnmlhsllsa qgvqptqpta
      601 fefvrpysdy lnprsggiss rsgntdkprp pplpsepppp lpplpk
//
LOCUS       XP_054231551             212 aa            linear   PRI 20-MAR-2023
DEFINITION  tubulinyl-Tyr carboxypeptidase 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054231551
VERSION     XP_054231551.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375576.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..212
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..212
                     /product="tubulinyl-Tyr carboxypeptidase 1 isoform X1"
                     /calculated_mol_wt=24212
     CDS             1..212
                     /gene="VASH1"
                     /gene_synonym="KIAA1036; TTCP 1"
                     /coded_by="XM_054375576.1:1880..2518"
                     /db_xref="GeneID:22846"
                     /db_xref="HGNC:HGNC:19964"
                     /db_xref="MIM:609011"
ORIGIN      
        1 mdlakemtke alpikcleav ilgiyltnsm ptlerfpisf ktyfsgnyfr hivlgvnfag
       61 rygalgmsrr edlmykppaf rtlselvldf eaaygrcwhv lkkvklgqsv shdphsveqi
      121 ewkhsvldve rlgrddfrke lerhardmrl kigkgtgpps ptkdrkkdvs spqraqssph
      181 rrnsrserrp sgdkktsepk ampdlngyqi rv
//
LOCUS       XP_054234185            1108 aa            linear   PRI 20-MAR-2023
DEFINITION  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2
            isoform X22 [Homo sapiens].
ACCESSION   XP_054234185
VERSION     XP_054234185.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378210.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1108
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1108
                     /product="1-phosphatidylinositol 4,5-bisphosphate
                     phosphodiesterase beta-2 isoform X22"
                     /calculated_mol_wt=125365
     CDS             1..1108
                     /gene="PLCB2"
                     /gene_synonym="PLC-beta-2"
                     /coded_by="XM_054378210.1:264..3590"
                     /db_xref="GeneID:5330"
                     /db_xref="HGNC:HGNC:9055"
                     /db_xref="MIM:604114"
ORIGIN      
        1 msllnpvllp pkvkaylsqg erfikwddet tvaspvilrv dpkgyylywt yqskemefld
       61 itsirdtrfg kfakmpksqk lrdvfnmdfp dnsfllktlt vvsgpdmvdl tfhnfvsyke
      121 nvgkawaedv lalvkhplta nasrstfldk ilvklkmqln segkipvknf fqmfpadrkr
      181 veaalsachl pkgkndainp edfpepvyks flmslcprpe ideiftsyha kakpymtkeh
      241 ltkfinqkqr dsrlnsllfp parpdqvqgl idkyepsgin aqrgqlspeg mvwflcgpen
      301 svlaqdklll hhdmtqplnh yfinsshnty ltagqfsgls saemyrqvll sgcrcveldc
      361 wkgkppdeep iithgftmtt diffkeaiea iaesafktsp ypiilsfenh vdsprqqakm
      421 aeycrtifgd mllteplekf plkpgvplps pedlrgkili knkknqfsgp tssskdtgge
      481 aegssppsap agegtvwage egteleeeev eeeeeeesgn ldeeeikkmq sdegtaglev
      541 tayeemsslv nyiqptkfvs fefsaqknrs yvissftelk aydllskasv qfvdynkrqm
      601 sriypkgtrm dssnympqmf wnagcqmval nfqtmdlpmq qnmavfefng qsgyllkhef
      661 mrrpdkqfnp fsvdridvvv attlsitvis gqflsersvr tyvevelfgl pgdpkrryrt
      721 klspstnsin pvwkeepfvf ekilmpelas lrvavmeegn kflghriipi nalnsgyhhl
      781 clhsesnmpl tmpalfifle mkdyipgawa dltvalanpi kffsahdtks vklkeamggl
      841 pekpfplasp vasqvngala ptsngspepr tasleelrel kgvvklqrrh ekelrelerr
      901 garrweellq rgaaqlaelg ppgvggvgac klgpgkgsrk krslpreesa gaapgegpeg
      961 vdgrvrelkd rlelellrqg eeqyecvlkr keqhvaeqis kmmelarekq aaelkalket
     1021 sendtkemkk kletkrleri qgmtkvttdk maqerlkrei nnshiqevvq vikqmtenle
     1081 rhqekleekq aacleqirem ekqnilsp
//
LOCUS       XP_054171356             289 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc transporter ZIP11 isoform X5 [Homo sapiens].
ACCESSION   XP_054171356
VERSION     XP_054171356.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315381.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..289
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..289
                     /product="zinc transporter ZIP11 isoform X5"
                     /calculated_mol_wt=30273
     CDS             1..289
                     /gene="SLC39A11"
                     /gene_synonym="C17orf26; ZIP-11; ZIP11"
                     /coded_by="XM_054315381.1:499..1368"
                     /db_xref="GeneID:201266"
                     /db_xref="HGNC:HGNC:14463"
                     /db_xref="MIM:616508"
ORIGIN      
        1 mlqghssvfq allgtfftwg mtaagaalvf vfssgqrril dgslgfaagv mlaasywsll
       61 apavematss ggfgafaffp vavgftlgaa fvyladllmp hlgaaedpqt alalnfgstl
      121 mkkksdpegp allfpesels iridksenge ayqrkkaaat glpegpavpv psrgnlaqpg
      181 gsswrriall ilaitihnvp eglavgvgfg aiektasatf esarqallln lshypvwnsr
      241 viywqlllfs fpgsschttq phltkrqwnl kvpagsggqt apprgslva
//
LOCUS       XP_054173476            1229 aa            linear   PRI 20-MAR-2023
DEFINITION  Fanconi anemia group J protein isoform X4 [Homo sapiens].
ACCESSION   XP_054173476
VERSION     XP_054173476.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317501.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 50% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1229
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1229
                     /product="Fanconi anemia group J protein isoform X4"
                     /calculated_mol_wt=138674
     CDS             1..1229
                     /gene="BRIP1"
                     /gene_synonym="BACH1; FANCJ; OF"
                     /coded_by="XM_054317501.1:276..3965"
                     /db_xref="GeneID:83990"
                     /db_xref="HGNC:HGNC:20473"
                     /db_xref="MIM:605882"
ORIGIN      
        1 mssmwseyti ggvkiyfpyk aypsqlammn silrglnskq hcllesptgs gkslallcsa
       61 lawqqslsgk padegvseka evqlscccac hskdftnndm nqgtsrhfny pstppserng
      121 tsstcqdspe kttlaaklsa kkqasiyrde nddfqvekkr irplettqqi rkrhcfgtev
      181 hnldakvdsg ktvklnsple kinsfspqkp pghcsrcccs tkqgnsqess ntikkdhtgk
      241 skipkiyfgt rthkqiaqit relrrtaysg vpmtilssrd htcvhpevvg nfnrnekcme
      301 lldgkngksc yfyhgvhkis dqhtlqtfqg mckawdieel vslgkklkac pyytareliq
      361 dadiifcpyn ylldaqires mdlnlkeqvv ildeahnied caresasysv tevqlrfard
      421 eldsmvnnni rkkdheplra vccslinwle anaeylverd yesackiwsg nemlltlhkm
      481 gittatfpil qghfsavlqk eekispiygk eearevpvis astqimlkgl fmvldylfrq
      541 nsrfaddyki aiqqtyswtn qidisdkngl lvlpknkkrs rqktavhvln fwclnpavaf
      601 sdingkvqti vltsgtlspm ksfsselgvt ftiqleanhi iknsqntetf efqdevgall
      661 lsvcqtvsqg ilcflpsykl leklkerwls tglwhnlelv ktvivepqgg ektnfdellq
      721 vyydaikykg ekdgallvav crgkvsegld fsddnaravi tigipfpnvk dlqvelkrqy
      781 ndhhsklrgl lpgrqwyeiq ayralnqalg rcirhrndwg alilvddrfr nnpsryisgl
      841 skwvrqqiqh hstfesales laefskkhqk vlnvsikdrt niqdnestle vtslkystpp
      901 ylleaashls penfvedeak icvqelqcpk iitknsplps siisrkeknd pvfleeagka
      961 ekivisrsts ptfnkqtkrv swssfnslgq yftgkipkat pelgssensa sspprfktek
     1021 mesktvlpft dkcessnltv ntsfgscpqs etiisslkid atltrknhse hplcseeald
     1081 pdielslvse edkqstsnrd feteaedesi yftpelydpe dtdeekndla etdrgnrlan
     1141 nsdcilakdl feirtikevd sarevkaedc idtklngilh ieeskiddid gnvkttwine
     1201 lelgktheie iknfkpspsk nkgmfpgfk
//
LOCUS       XP_054174651             415 aa            linear   PRI 20-MAR-2023
DEFINITION  plasminogen activator inhibitor 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054174651
VERSION     XP_054174651.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318676.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..415
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..415
                     /product="plasminogen activator inhibitor 2 isoform X1"
                     /calculated_mol_wt=46496
     CDS             1..415
                     /gene="SERPINB2"
                     /gene_synonym="HsT1201; PAI; PAI-2; PAI2; PLANH2"
                     /coded_by="XM_054318676.1:3083..4330"
                     /db_xref="GeneID:5055"
                     /db_xref="HGNC:HGNC:8584"
                     /db_xref="MIM:173390"
ORIGIN      
        1 medlcvantl falnlfkhla kasptqnlfl spwsisstma mvymgsrgst edqmakvlqf
       61 nevganavtp mtpenftscg fmqqiqkgsy pdailqaqaa dkihssfrsl ssainastgd
      121 yllesvnklf geksasfree yirlcqkyys sepqavdfle caeearkkin swvktqtkgk
      181 ipnllpegsv dgdtrmvlvn avyfkgkwkt pfekklngly pfrvnsaqrt pvqmmylrek
      241 lnigyiedlk aqilelpyag dvsmflllpd eiadvstgle lleseitydk lnkwtskdkm
      301 aedevevyip qfkleehyel rsilrsmgme dafnkgranf sgmserndlf lsevfhqamv
      361 dvneegteaa agtggvmtgr tghggpqfva dhpflflimh kitkcilffg rfcsp
//
LOCUS       XP_054175878             125 aa            linear   PRI 20-MAR-2023
DEFINITION  insulin growth factor-like family member 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054175878
VERSION     XP_054175878.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319903.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..125
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..125
                     /product="insulin growth factor-like family member 2
                     isoform X1"
                     /calculated_mol_wt=13714
     CDS             1..125
                     /gene="IGFL2"
                     /gene_synonym="UNQ645; VPRI645"
                     /coded_by="XM_054319903.1:222..599"
                     /db_xref="GeneID:147920"
                     /db_xref="HGNC:HGNC:32929"
                     /db_xref="MIM:610545"
ORIGIN      
        1 mrfsvsgmrt dyprsvlapa yvsvcllllc previapags epwlcqpapr cgdkiynple
       61 qccyndaivs lsetrqcgpp ctfwpcfelc cldsfgltnd fvvklkvqgv nsqchsspis
      121 skcer
//
LOCUS       XP_054176107            1183 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 24 isoform X7 [Homo
            sapiens].
ACCESSION   XP_054176107
VERSION     XP_054176107.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320132.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1183
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1183
                     /product="ankyrin repeat domain-containing protein 24
                     isoform X7"
                     /calculated_mol_wt=127579
     CDS             1..1183
                     /gene="ANKRD24"
                     /coded_by="XM_054320132.1:102..3653"
                     /db_xref="GeneID:170961"
                     /db_xref="HGNC:HGNC:29424"
                     /db_xref="MIM:620234"
ORIGIN      
        1 mkqlclcaaa sfasqdwgks derllqaven ndaprvaali arkglvptkl dpegksafhl
       61 aamrgaascl evmiahgsnv msadgagyna lhlaakyghp qclkqllqas cvvdvvdssg
      121 wtalhhaaag gclscsevlc sfkahlnpqd rsgatpliia aqmchtdlcr lllqqgaaan
      181 dqdlqgrtal mlacegaspe tvevllqgga qpgitdalgq daahygalag dklilhllqe
      241 aaqrpsppsa lteddsgeas sqnsmsshgk qgapkkrkap pppasipmpd drdayeeivr
      301 lrqergrllq kirgleqhke rrqqeppgpp rcssnspgav lpqglcttsv lclecssavl
      361 pqglcttcvl clecssprwp hsslphllya speasslhil erqvqelqql lverqeekes
      421 lgreveslqs rlsllenere ntsydvttlq deegelpdlp gaevllsrql spsaqehlas
      481 lqeqvavltr qnqelmekvq ilenfekdet qmevealaev iplalydslr aefdqlrrqh
      541 aealqalrqq etrevpreeg aacgesevag atatkngpth melngsvape tkvngaetid
      601 eeaagdetme artmeaeatg akatgaeatg akvtetkptg aevremette eeanmetkpt
      661 gaqatdtett gveamgveat ktkaeeaemq aygvgagqae ppvtgttnme atgsratgme
      721 atgvsatgve npgveatvpg isagpilhpg aaeaseklqv eletrirgle ealrqrerea
      781 aaeleaalgk ceaaeaeagr lrervreaeg sgasgggggd ttqlraaleq aredlrdrds
      841 rlreleaasa cldearasrl laeeearglr aelaqreear leqsrelevl reqlatarat
      901 geqqrtaaae lgrardaaea rvaelpaace earqglaelr easealrqsv vpasehrrlq
      961 eealelrgra asleqevvat gkeaarlrae lerervcsva lseherivgt lqanvaqleg
     1021 qleelgrrhe ktsaevfqvq realfmkser haaeaqlata eqqlrglrte aerarqaqsr
     1081 aqealdkake kdkkitelsk evfnlkealk eqpaalatpe vealrdqvkd lqqqlqeaar
     1141 dhssvvalyr shllyaiqgq mdedvqrils qilqmqrlqa qgr
//
LOCUS       XP_054179157             669 aa            linear   PRI 20-MAR-2023
DEFINITION  band 4.1-like protein 1 isoform X32 [Homo sapiens].
ACCESSION   XP_054179157
VERSION     XP_054179157.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323182.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..669
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..669
                     /product="band 4.1-like protein 1 isoform X32"
                     /calculated_mol_wt=75232
     CDS             1..669
                     /gene="EPB41L1"
                     /gene_synonym="4.1N; MRD11"
                     /coded_by="XM_054323182.1:169..2178"
                     /db_xref="GeneID:2036"
                     /db_xref="HGNC:HGNC:3378"
                     /db_xref="MIM:602879"
ORIGIN      
        1 meekdysead glserttpsk aqkspqkiak kyksaicrvt lldaseyece vekhgrgqvl
       61 fdlvcehlnl lekdyfgltf cdadsqknwl dpskeikkqi rsspwnfaft vkfyppdpaq
      121 lteditryyl clqlradiit grlpcsfvth allgsyavqa elgdydaeeh vgnyvselrf
      181 apnqtrelee rimelhktyr gmtpgeaeih flenakklsm ygvdlhhakd segidimlgv
      241 canglliyrd rlrinrfawp kilkisykrs nfyikirpge yeqfestigf klpnhrsakr
      301 lwkvciehht ffrlvspepp pkgflvmgsk frysgrtqaq trqasalidr papffersss
      361 krytmsrsld gaefsrpasv senhdagpdg dkrdedgesg gqrseaeege vrtptkikel
      421 kfldkpedvl lkhqasinel krtlkepnsk lihrdrdwer errlpsspas pspkgtpeka
      481 nepvktetmt vsslairkki epeavlqtrv samdntqvdg sasvgrefia ttpsitteti
      541 sttmenslks gkgaaamipg pqtvateirs lspiigkdvl tstygataet lststtthvt
      601 ktvkggfset riekriiitg dedvdqdqal alaikeaklq hpdmlvtkav vyretdpspe
      661 erdkkpqes
//
LOCUS       XP_054181523            1101 aa            linear   PRI 20-MAR-2023
DEFINITION  structural maintenance of chromosomes protein 1B isoform X3 [Homo
            sapiens].
ACCESSION   XP_054181523
VERSION     XP_054181523.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325548.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1101
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1101
                     /product="structural maintenance of chromosomes protein 1B
                     isoform X3"
                     /calculated_mol_wt=128717
     CDS             1..1101
                     /gene="SMC1B"
                     /gene_synonym="SMC1BETA; SMC1L2"
                     /coded_by="XM_054325548.1:33..3338"
                     /db_xref="GeneID:27127"
                     /db_xref="HGNC:HGNC:11112"
                     /db_xref="MIM:608685"
ORIGIN      
        1 mahlelllve nfkswrgrqv igpfrrftci igpngsgksn vmdalsfvmg ekianlrvkn
       61 iqelihgahi gkpisssasv kiiyveesge ektfariirg gcsefrfndn lvsrsvyiae
      121 lekigiivka qnclvfqgtv esisvkkpke rtqffeeist sgeligeyee kkrklqkaee
      181 daqfnfnkkk niaaerrqak lekeeaeryq slleelkmnk iqlqlfqlyh nekkihllnt
      241 klehvnrdls vkreslshhe nivkarkkeh gmltrqlqqt ekelksvetl lnqkrpqyik
      301 akentshhlk kldvakksik dsekqcskqe ddikaletel adldaawrsf ekqieeeilh
      361 kkrdieleas qldrykelke qvrkkvatmt qqleklqweq ktdeerlafe krrhgevqgn
      421 lkqikeqied hkkrieklee ytktcmdclk ekkqqeetlv deiektksrm sevneelnli
      481 rselqnagid thegkrqqkr aevlehlkrl ypdsvfgrlf dlchpihkky qlavtkvfgr
      541 fitaivvase kvakdcirfl keeraepetf laldyldikp inerlrelkg ckmvidvikt
      601 qfpqlkkviq fvcgnglvce tmeearhial sgperqktva ldgtlflksg visggssdlk
      661 ykarcwdeke lknlrdrrsq kiqelkglmk tlrketdlkq iqtliqgtqt rlkysqnele
      721 mikkkhlvaf yqeqsqlqse llniesqyim lsegikerqr rikefqekid kveddifqhf
      781 ceeigvenir efenkhvkrq qeidqkrlef ekqktrlnvq leysrshlkk klnkintlke
      841 tiqkgsedid hlkkaeencl qtvnelmakq qqlkdirvtq nssaekvqtq ieeerkkfla
      901 vdrevgklqk evvsiqtsle qkrlekhnll ldckvqdiei illsgslddi ievemgteae
      961 stqatidiye keeafeidys slkedlkalq sdqeieahlr lllqqvasqe dillktaapn
     1021 lralenlktv rdkfqestda feasrkearl crqefeqvkk rrydlftqcf ehvsisidqi
     1081 ykklcrnnsa qfsscpilcf r
//
LOCUS       XP_054201145             360 aa            linear   PRI 20-MAR-2023
DEFINITION  C-C chemokine receptor type 4 isoform X1 [Homo sapiens].
ACCESSION   XP_054201145
VERSION     XP_054201145.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345170.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..360
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..360
                     /product="C-C chemokine receptor type 4 isoform X1"
                     /calculated_mol_wt=41272
     CDS             1..360
                     /gene="CCR4"
                     /gene_synonym="CC-CKR-4; CD194; ChemR13; CKR4; CMKBR4;
                     HGCN:14099; K5-5"
                     /coded_by="XM_054345170.1:127..1209"
                     /db_xref="GeneID:1233"
                     /db_xref="HGNC:HGNC:1605"
                     /db_xref="MIM:604836"
ORIGIN      
        1 mnptdiadtt ldesiysnyy lyesipkpct kegikafgel flpplyslvf vfgllgnsvv
       61 vlvlfkykrl rsmtdvylln laisdllfvf slpfwgyyaa dqwvfglglc kmiswmylvg
      121 fysgiffvml msidrylaiv havfslrart ltygvitsla twsvavfasl pgflfstcyt
      181 ernhtycktk yslnsttwkv lssleinilg lviplgimlf cysmiirtlq hcknekknka
      241 vkmifavvvl flgfwtpyni vlfletlvel evlqdctfer yldyaiqate tlafvhccln
      301 piiyfflgek frkyilqlfk tcrglfvlcq ycgllqiysa dtpsssytqs tmdhdlhdal
//
LOCUS       XP_054201546             778 aa            linear   PRI 20-MAR-2023
DEFINITION  cilium assembly protein DZIP1L isoform X3 [Homo sapiens].
ACCESSION   XP_054201546
VERSION     XP_054201546.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345571.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..778
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..778
                     /product="cilium assembly protein DZIP1L isoform X3"
                     /calculated_mol_wt=87568
     CDS             1..778
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /coded_by="XM_054345571.1:363..2699"
                     /db_xref="GeneID:199221"
                     /db_xref="HGNC:HGNC:26551"
                     /db_xref="MIM:617570"
ORIGIN      
        1 mqspaataeg lsgplfgayt fptfkfqprh dsmdwrrist ldvdrvarel dvatlqenia
       61 gitfcnldre vcsrcgqpvd pallkvlrla qliieyllhc qdclsasvaq learlqtslg
      121 qqqrgqqelg rqadelkgvr eesrrrrkmi stlqqllmqt gthsyhtchl cdktfmnatf
      181 lrghiqrrha gvaeggkqkk qeqpveevle elraklkwtq geleaqreae rqrqlqeael
      241 ihqreieakk efdkwkeqew tklygeidkl kklfwdefkn vakqnstlee klralqshsv
      301 mesklgslrd eeseewlrqa relqalrekt eiqktewkrk vkelheehma ekkelqeenq
      361 rlqaslsqdq kkaaaqsqcq istlraqlqe qariiasqee miqslslrkv egihkvpkav
      421 dteedspeee medsqdeqhk vlaalrrnpt llkhfrpile dtleeklesm girkdakgis
      481 iqtlrhlesl lrvqreqkar kfseflslrg klvkevtsra kerqengavv sqpdgqpsvk
      541 sqqstlvtre aqpktrtlqv alpstpaepp pptrqshgsh gssltqvsap aprpglhgps
      601 stppssgpgm stppfsseed segdrvqrvs lqppkvpsrm vprpkddwdw sdtetseena
      661 qppgqgsgtl vqsmvknlek qleapakkpa ggvslffmpn agpqraatpg rkpqvgcrml
      721 rvysgilyrt ssefggpgvk vgegpasvil cpsgtlwvts lcpcahgema sleylyps
//
LOCUS       XP_054202831            1053 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit
            beta isoform isoform X2 [Homo sapiens].
ACCESSION   XP_054202831
VERSION     XP_054202831.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346856.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1053
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1053
                     /product="phosphatidylinositol 4,5-bisphosphate 3-kinase
                     catalytic subunit beta isoform isoform X2"
                     /calculated_mol_wt=120945
     CDS             1..1053
                     /gene="PIK3CB"
                     /gene_synonym="P110BETA; PI3K; PI3KBETA; PIK3C1"
                     /coded_by="XM_054346856.1:423..3584"
                     /db_xref="GeneID:5291"
                     /db_xref="HGNC:HGNC:8976"
                     /db_xref="MIM:602925"
ORIGIN      
        1 mcfsfimppa madildiwav dsqiasdgsi pvdfllptgi yiqlevprea tisyikqmlw
       61 kqvhnypmfn llmdidsymf acvnqtavye eledetrrlc dvrpflpvlk lvtrscdpge
      121 kldskigvli gkglhefdsl kdpevnefrr kmrkfseeki lslvglswmd wlkqtyppeh
      181 epsipenled klyggkliva vhfencqdvf sfqvspnmnp ikvnelaiqk rltihgkede
      241 vspydyvlqv sgrveyvfgd hpliqfqyir ncvmnralph filvecckik kmyeqemiai
      301 eaainrnssn lplplppkkt riishvwenn npfqivlvkg nklnteetvk vhvraglfhg
      361 tellcktivs sevsgkndhi wneplefdin icdlprmarl cfavyavldk vktkkstkti
      421 npskyqtirk agkvhypvaw vntmvfdfkg qlrtgdiilh swssfpdele emlnpmgtvq
      481 tnpytenata lhvkfpenkk qpyyyppfdk srggkkflpv lkeildrdpl sqlcenemdl
      541 iwtlrqdcre ifpqslpkll lsikwnkled vaqlqallqi wpklppreal elldfnypdq
      601 yvreyavgcl rqmsdeelsq yllqlvqvlk yepfldcals rflleralgn rrigqflfwh
      661 lrsevhipav svqfgvilea ycrgsvghmk vlskqvealn klktlnslik lnavklnrak
      721 gkeamhtclk qsayrealsd lqsplnpcvi lselyvekck ymdskmkplw lvynnkvfge
      781 dsvgvifkng ddlrqdmltl qmlrlmdllw keagldlrml pygclatgdr sglievvsts
      841 etiadiqlns snvaaaaafn kdallnwlke ynsgddldra ieeftlscag ycvasyvlgi
      901 gdrhsdnimv kktgqlfhid fghilgnfks kfgikrervp filtydfihv iqqgktgnte
      961 kfgrfrqcce daylilrrhg nlfitlfalm ltaglpelts vkdiqylkds lalgkseeea
     1021 lkqfkqkfde alreswttkv nwmahtvrkd yrs
//
LOCUS       XP_054203856             177 aa            linear   PRI 20-MAR-2023
DEFINITION  ventricular zone-expressed PH domain-containing protein homolog 1
            isoform X8 [Homo sapiens].
ACCESSION   XP_054203856
VERSION     XP_054203856.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347881.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..177
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..177
                     /product="ventricular zone-expressed PH domain-containing
                     protein homolog 1 isoform X8"
                     /calculated_mol_wt=19658
     CDS             1..177
                     /gene="VEPH1"
                     /gene_synonym="MELT; VEPH"
                     /coded_by="XM_054347881.1:293..826"
                     /db_xref="GeneID:79674"
                     /db_xref="HGNC:HGNC:25735"
                     /db_xref="MIM:609594"
ORIGIN      
        1 mhqlfrlvlg qkdlsragdl fslddseied sltealeqik iissssdyqt nnndqavvei
       61 citrittair etesiekhak alvglwdscl ehnlrpfgkd edtphakias dimscilqny
      121 nrppvmalai piavkflhrg nkelcrnmsn ylslaaitka dlladhtevi vksilqv
//
LOCUS       XP_054204536             795 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 5 isoform X2 [Homo sapiens].
ACCESSION   XP_054204536
VERSION     XP_054204536.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348561.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..795
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..795
                     /product="TBC1 domain family member 5 isoform X2"
                     /calculated_mol_wt=88874
     CDS             1..795
                     /gene="TBC1D5"
                     /coded_by="XM_054348561.1:470..2857"
                     /db_xref="GeneID:9779"
                     /db_xref="HGNC:HGNC:19166"
                     /db_xref="MIM:615740"
ORIGIN      
        1 myhslsetrh plqpeeqevg idplssysnk sggdsnkngr rtsstldseg tfnsyrkewe
       61 elfvnnnyla tirqkgingq lrssrfrsic wklflcvlpq dksqwisrie elrawysnik
      121 eihitnprkv vgqqdlminn plsqdegslw nkffqdkelr smieqdvkrt fpemqffqqe
      181 nvrkiltdvl fcyareneql lykqgmhell apivfvlhcd hqaflhases aqpseemktv
      241 lnpeylehda yavfsqlmet aepwfstfeh dgqkgketlm tpipfarpqd lgptiaivtk
      301 vnqiqdhllk khdielymhl nrleiapqiy glrwvrllfg refplqdllv vwdalfadgl
      361 slglvdyifv amllyirdal issnyqtclg llmhypfigd vhslilkalf lrdpkrnprp
      421 vtyqfhpnld yykargadlm nksrtnakga plninkvsns linfgrklis pamapgsagg
      481 pvpggnssss ssvviptrts aeapshhlqq qqqqqrlmks esmpvqlnkg lssknisssp
      541 sveslpggre ftgsppssat kkdsffsnis rsrshsktmg rkeseeelea qisflqgqln
      601 dldamckyca kvmdthlvni qdvilqenle kedqilvsla glkqikdilk gslrfnqsql
      661 eaeeneqiti adnhycssgq gqgrgqgqsv qmsgaikqas setpgctdrg nsddfilisk
      721 dddgssargs fsgqaqplrt lrstsgksqa pvcsplvfsd plmgpasass snpssspddd
      781 sskdsgftiv spldi
//
LOCUS       XP_054205060             710 aa            linear   PRI 20-MAR-2023
DEFINITION  Bardet-Biedl syndrome 12 protein isoform X1 [Homo sapiens].
ACCESSION   XP_054205060
VERSION     XP_054205060.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349085.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..710
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..710
                     /product="Bardet-Biedl syndrome 12 protein isoform X1"
                     /calculated_mol_wt=78955
     CDS             1..710
                     /gene="BBS12"
                     /gene_synonym="C4orf24"
                     /coded_by="XM_054349085.1:238..2370"
                     /db_xref="GeneID:166379"
                     /db_xref="HGNC:HGNC:26648"
                     /db_xref="MIM:610683"
ORIGIN      
        1 mvmacrvvnk rrhmglqqls sfaetgrtfl gplksskfii deechesvli sstvrllesl
       61 dltsavgqll neavqaqnnt yrtgistllf lvgawssave eclhlgvpis iivsvmsegl
      121 nfcseevvsl hvpvhnifdc mdstktfsql etfsvslcpf lqvpsdtdli eelhglkdva
      181 sqtltisnls grplksyelf kpqtkveadn ntsrtlknsl ladtccrqsi lihsrhfnrt
      241 dntegvskpd gfqehvtath ktyrcndlve lavglshgdh ssmklveeav qlqyqnacvq
      301 qgnctkpfmf disriftccl pglpetsscv cpgyitvvsv snnpvikelq nqpvrivlie
      361 gdltenyrhl gfnksanikt vldsmrlqed sseelwanhv lqvliqfkvn lvlvqgnvse
      421 rliekcinsk rlvigsvngs vmqafaeaag avqvayitqv nedcvgdgvc vtfwrsspld
      481 vvdrnnriai llkteginlv tavltnpvta qmqikedrfw tcayrlyyal keekvflggg
      541 aveflclscl hilaeqslkk enhacsgwlh ntsswlassl aiyrptvlkf langwqkyls
      601 tllyntanys sefeastyiq hhlqnatdsg spssyilney sklnsrifns disnkleqip
      661 rvydvvtpki eawrraldlv llvlqtdsei itghghtqin sqeltgflfl
//
LOCUS       XP_054206764             306 aa            linear   PRI 20-MAR-2023
DEFINITION  mitochondrial brown fat uncoupling protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054206764
VERSION     XP_054206764.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350789.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..306
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..306
                     /product="mitochondrial brown fat uncoupling protein 1
                     isoform X1"
                     /calculated_mol_wt=32802
     CDS             1..306
                     /gene="UCP1"
                     /gene_synonym="SLC25A7; UCP"
                     /coded_by="XM_054350789.1:233..1153"
                     /db_xref="GeneID:7350"
                     /db_xref="HGNC:HGNC:12517"
                     /db_xref="MIM:113730"
ORIGIN      
        1 mggltasdvh ptlgvqlfsa giaacladvi tfpldtakvr lqvqgecpts svirykgvlg
       61 titavvkteg rmklysglpa glqrqissas lriglydtvq efltagketp slgskilagl
      121 ttggvavfig qptevvkvrl qaqshlhgik prytgtynay riiatteglt glwkgttpnl
      181 mrsviincte lvtydlmkea fvknniladd vpchlvsali agfcatamss pvdvvktrfi
      241 nsppgqyksv pncamkvftn egptaffkgl vpsflrlgsw nvimfvcfeq lkrelsksrq
      301 tmdcat
//
LOCUS       XP_054211530             273 aa            linear   PRI 20-MAR-2023
DEFINITION  39S ribosomal protein L2, mitochondrial isoform X2 [Homo sapiens].
ACCESSION   XP_054211530
VERSION     XP_054211530.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355555.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..273
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..273
                     /product="39S ribosomal protein L2, mitochondrial isoform
                     X2"
                     /calculated_mol_wt=29954
     CDS             1..273
                     /gene="MRPL2"
                     /gene_synonym="CGI-22; MRP-L14; RPML14"
                     /coded_by="XM_054355555.1:82..903"
                     /db_xref="GeneID:51069"
                     /db_xref="HGNC:HGNC:14056"
                     /db_xref="MIM:611822"
ORIGIN      
        1 mmnngllqqp salmllpcrp vltsvalnan fvswksrtky titpvkmrks ggrdhtgrir
       61 vhgiggghkq ryrmidflrf rpeetksgpf eekviqvryd pcrsadialv aggsrkrwii
      121 atenmqagdt ilnsnhigrm avaaregdah plgalpvgtl innvesepgr gaqyiraagt
      181 cgvllrkvng taiiqlpskr qmqvletcva tvgrvsnvdh nkrvigkagr nrwlgkrpns
      241 grwhrkggwa grkirplppm ksyvklpsas aqs
//
LOCUS       XP_054216333             224 aa            linear   PRI 20-MAR-2023
DEFINITION  COMM domain-containing protein 5 isoform X1 [Homo sapiens].
ACCESSION   XP_054216333
VERSION     XP_054216333.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360358.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..224
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..224
                     /product="COMM domain-containing protein 5 isoform X1"
                     /calculated_mol_wt=24569
     CDS             1..224
                     /gene="COMMD5"
                     /gene_synonym="HCARG; HT002"
                     /coded_by="XM_054360358.1:268..942"
                     /db_xref="GeneID:28991"
                     /db_xref="HGNC:HGNC:17902"
                     /db_xref="MIM:608216"
ORIGIN      
        1 msavgtatpy lhhpgdshsg rvsflgaqlp pevaamarll gdldrstfrk llkfvvsslq
       61 gedcreavqr lgvsanlpee qlgallagmh tllqqalrlp ptslkpdtfr dqlqelcipq
      121 dlvgdlasvv fgsqrpllds vaqqqgawlp hvadfrwrvd vaistsalar slqpsvlmql
      181 klsdgsayrf evptakfqel rysvalvlke madlekrcer rlqd
//
LOCUS       NP_937817                626 aa            linear   PRI 23-MAR-2023
DEFINITION  grainyhead-like protein 3 homolog isoform 3 [Homo sapiens].
ACCESSION   NP_937817
VERSION     NP_937817.3
DBSOURCE    REFSEQ: accession NM_198174.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 626)
  AUTHORS   Slavec L, Gersak K, Eberlinc A, Hovnik T, Lovrecic L,
            Mlinaric-Rascan I and Karas Kuzelicki N.
  TITLE     A Comprehensive Genetic Analysis of Slovenian Families with
            Multiple Cases of Orofacial Clefts Reveals Novel Variants in the
            Genes IRF6, GRHL3, and TBX22
  JOURNAL   Int J Mol Sci 24 (5), 4262 (2023)
   PUBMED   36901693
  REMARK    GeneRIF: A Comprehensive Genetic Analysis of Slovenian Families
            with Multiple Cases of Orofacial Clefts Reveals Novel Variants in
            the Genes IRF6, GRHL3, and TBX22.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 626)
  AUTHORS   Sun JL, Shi JY, Yin B, Lin YS, Shi B and Jia ZL.
  TITLE     Association analysis of SNPs in GRHL3, FAF1, and KCNJ2 with NSCPO
            sub-phenotypes in Han Chinese
  JOURNAL   Oral Dis 28 (8), 2204-2214 (2022)
   PUBMED   34255421
  REMARK    GeneRIF: Association analysis of SNPs in GRHL3, FAF1, and KCNJ2
            with NSCPO sub-phenotypes in Han Chinese.
REFERENCE   3  (residues 1 to 626)
  AUTHORS   Naicker T, Adeleke CC, Alade A, Mossey PA, Awotoye WA, Busch TD, Li
            M, Olotu J, Gowans LJJ, Aldous C and Butali A.
  TITLE     Novel GRHL3 Variants in a South African Cohort With Cleft Lip and
            Palate
  JOURNAL   Cleft Palate Craniofac J 59 (9), 1125-1130 (2022)
   PUBMED   34459660
  REMARK    GeneRIF: Novel GRHL3 Variants in a South African Cohort With Cleft
            Lip and Palate.
REFERENCE   4  (residues 1 to 626)
  AUTHORS   Slavec L, Karas Kuzelicki N, Locatelli I and Gersak K.
  TITLE     Genetic markers for non-syndromic orofacial clefts in populations
            of European ancestry: a meta-analysis
  JOURNAL   Sci Rep 12 (1), 1214 (2022)
   PUBMED   35075162
  REMARK    GeneRIF: Genetic markers for non-syndromic orofacial clefts in
            populations of European ancestry: a meta-analysis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 626)
  AUTHORS   Tan L, Qu W, Wu D, Liu M, Wang Q, Ai Q, Hu H, Chen M, Chen W and
            Zhou H.
  TITLE     GRHL3 Promotes Tumor Growth and Metastasis via the MEK Pathway in
            Colorectal Cancer
  JOURNAL   Anal Cell Pathol (Amst) 2021, 6004821 (2021)
   PUBMED   34888136
  REMARK    GeneRIF: GRHL3 Promotes Tumor Growth and Metastasis via the MEK
            Pathway in Colorectal Cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 626)
  AUTHORS   Boglev Y, Wilanowski T, Caddy J, Parekh V, Auden A, Darido C,
            Hislop NR, Cangkrama M, Ting SB and Jane SM.
  TITLE     The unique and cooperative roles of the Grainy head-like
            transcription factors in epidermal development reflect unexpected
            target gene specificity
  JOURNAL   Dev Biol 349 (2), 512-522 (2011)
   PUBMED   21081122
REFERENCE   7  (residues 1 to 626)
  AUTHORS   Caddy J, Wilanowski T, Darido C, Dworkin S, Ting SB, Zhao Q, Rank
            G, Auden A, Srivastava S, Papenfuss TA, Murdoch JN, Humbert PO,
            Parekh V, Boulos N, Weber T, Zuo J, Cunningham JM and Jane SM.
  TITLE     Epidermal wound repair is regulated by the planar cell polarity
            signaling pathway
  JOURNAL   Dev Cell 19 (1), 138-147 (2010)
   PUBMED   20643356
  REMARK    Erratum:[Dev Cell. 2010 Aug 17;19(2):353. Parekh, Vishwas [added]]
REFERENCE   8  (residues 1 to 626)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   9  (residues 1 to 626)
  AUTHORS   Guardiola-Serrano F, Haendeler J, Lukosz M, Sturm K, Melchner Hv
            and Altschmied J.
  TITLE     Gene trapping identifies a putative tumor suppressor and a new
            inducer of cell migration
  JOURNAL   Biochem Biophys Res Commun 376 (4), 748-752 (2008)
   PUBMED   18814840
  REMARK    GeneRIF: GRHL3 strongly stimulated primary endothelial cell
            migration, suggesting that it is a putative tumor-angiogenesis
            factor.
REFERENCE   10 (residues 1 to 626)
  AUTHORS   Ting SB, Wilanowski T, Cerruti L, Zhao LL, Cunningham JM and Jane
            SM.
  TITLE     The identification and characterization of human
            Sister-of-Mammalian Grainyhead (SOM) expands the grainyhead-like
            family of developmental transcription factors
  JOURNAL   Biochem J 370 (Pt 3), 953-962 (2003)
   PUBMED   12549979
  REMARK    GeneRIF: Data report the identification of Sister-of-Mammalian
            Grainyhead (SOM), which is phylogenetically aligned with grainyhead
            protein, and like grainyhead encodes a highly conserved
            developmental transcription factor. [Sister-of-Mammalian
            Grainyhead]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA714132.1, AK074386.1 and
            AK315164.1.
            On Aug 18, 2010 this sequence version replaced NP_937817.2.
            
            Summary: This gene encodes a member of the grainyhead family of
            transcription factors. The encoded protein may function as a
            transcription factor during development, and has been shown to
            stimulate migration of endothelial cells. Multiple transcript
            variants encoding distinct isoforms have been identified for this
            gene.[provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at an
            alternate start codon, compared to variant 1. This variant also
            differs in the 3' coding region and 3' UTR, compared to variant 1.
            The encoded isoform (3) has distinct N- and C-termini and is longer
            than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074386.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2156670 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..626
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     Protein         1..626
                     /product="grainyhead-like protein 3 homolog isoform 3"
                     /note="transcription factor CP2-like 4; transcription
                     factor hSOM1; grainyhead-like protein 3 homolog; sister of
                     mammalian grainyhead"
                     /calculated_mol_wt=70214
     Region          30..95
                     /region_name="Transcription activation.
                     /evidence=ECO:0000269|PubMed:12549979"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TE85.3)"
     Region          215..421
                     /region_name="CP2"
                     /note="CP2 transcription factor; pfam04516"
                     /db_xref="CDD:427990"
     CDS             1..626
                     /gene="GRHL3"
                     /gene_synonym="SOM; TFCP2L4; VWS2"
                     /coded_by="NM_198174.3:196..2076"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS252.2"
                     /db_xref="GeneID:57822"
                     /db_xref="HGNC:HGNC:25839"
                     /db_xref="MIM:608317"
ORIGIN      
        1 msneldfrsv rllkndpvnl qkfsytsede awktylenpl taatkammrv ngdddsvaal
       61 sflydyymgp kekrilssst ggrndqgkry yhgmeyetdl tplespthlm kfltenvsgt
      121 peypdllkkn nlmslegalp tpgkaaplpa gpskleagsv dsyllpttdm ydngslnslf
      181 esihgvpptq rwqpdstfkd dpqesmlfpd ilktspeppc pedypslksd feytlgspka
      241 ihiksgespm aylnkgqfyp vtlrtpaggk glalssnkvk svvmvvfdne kvpveqlrfw
      301 khwhsrqpta kqrvidvadc kenfntvehi eevaynalsf vwnvneeakv figvnclstd
      361 fssqkgvkgv plnlqidtyd cglgterlvh ravcqikifc dkgaerkmrd derkqfrrkv
      421 kcpdssnsgv kgcllsgfrg nettylrpet dletppvlfi pnvhfsslqr sggaapsagp
      481 sssnrlplkr tcspfteefe plpskqakeg dlqrvllyvr reteevfdal mlktpdlkgl
      541 rnaisekygf peeniykvyk kckrgetsll hprlsrhppp dclecshpvt qvrnmgfgdg
      601 fwrqrdldsn pspttvnslh ftvnse
//
LOCUS       NP_001392529            1652 aa            linear   PRI 23-MAR-2023
DEFINITION  protein polybromo-1 isoform 17 [Homo sapiens].
ACCESSION   NP_001392529
VERSION     NP_001392529.1
DBSOURCE    REFSEQ: accession NM_001405600.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1652)
  AUTHORS   Yamashita N, Morimoto Y, Fushimi A, Ahmad R, Bhattacharya A, Daimon
            T, Haratake N, Inoue Y, Ishikawa S, Yamamoto M, Hata T, Akiyoshi S,
            Hu Q, Liu T, Withers H, Liu S, Shapiro GI, Yoshizumi T, Long MD and
            Kufe D.
  TITLE     MUC1-C Dictates PBRM1-Mediated Chronic Induction of Interferon
            Signaling, DNA Damage Resistance, and Immunosuppression in
            Triple-Negative Breast Cancer
  JOURNAL   Mol Cancer Res 21 (3), 274-289 (2023)
   PUBMED   36445328
  REMARK    GeneRIF: MUC1-C Dictates PBRM1-Mediated Chronic Induction of
            Interferon Signaling, DNA Damage Resistance, and Immunosuppression
            in Triple-Negative Breast Cancer.
REFERENCE   2  (residues 1 to 1652)
  AUTHORS   Walton J, Lawson K, Prinos P, Finelli A, Arrowsmith C and Ailles L.
  TITLE     PBRM1, SETD2 and BAP1 - the trinity of 3p in clear cell renal cell
            carcinoma
  JOURNAL   Nat Rev Urol 20 (2), 96-115 (2023)
   PUBMED   36253570
  REMARK    GeneRIF: PBRM1, SETD2 and BAP1 - the trinity of 3p in clear cell
            renal cell carcinoma.
            Review article
REFERENCE   3  (residues 1 to 1652)
  AUTHORS   Miao XY, Wu H, Ye BC, Yi QW, Lin FN, Wang YL, Ren CL, Jiang YF and
            Li A.
  TITLE     Non-small cell lung cancer carrying PBRM1 mutation suggests an
            immunologically cold phenotype leading to immunotherapy failure
            even with high TMB
  JOURNAL   Sci Rep 12 (1), 20734 (2022)
   PUBMED   36456601
  REMARK    GeneRIF: Nonsmall cell lung cancer carrying PBRM1 mutation suggests
            an immunologically cold phenotype leading to immunotherapy failure
            even with high TMB.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1652)
  AUTHORS   He X, Xu J, Niu N, Xu G, Zhu H, Liu Z, Mou Y, Qian Z, Wang H, Hu J,
            Ma T, Ma J and Tao H.
  TITLE     PBRM1 presents a potential prognostic marker and therapeutic target
            in duodenal papillary carcinoma
  JOURNAL   Clin Transl Med 12 (10), e1062 (2022)
   PUBMED   36178086
  REMARK    GeneRIF: PBRM1 presents a potential prognostic marker and
            therapeutic target in duodenal papillary carcinoma.
REFERENCE   5  (residues 1 to 1652)
  AUTHORS   Zhou Z, Huang D, Yang S, Liang J, Wang X and Rao Q.
  TITLE     Clinicopathological Significance, Related Molecular Changes and
            Tumor Immune Response Analysis of the Abnormal SWI/SNF Complex
            Subunit PBRM1 in Gastric Adenocarcinoma
  JOURNAL   Pathol Oncol Res 28, 1610479 (2022)
   PUBMED   35928964
  REMARK    GeneRIF: Clinicopathological Significance, Related Molecular
            Changes and Tumor Immune Response Analysis of the Abnormal SWI/SNF
            Complex Subunit PBRM1 in Gastric Adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1652)
  AUTHORS   Horikawa I and Barrett JC.
  TITLE     cDNA cloning of the human polybromo-1 gene on chromosome 3p21
  JOURNAL   DNA Seq 13 (4), 211-215 (2002)
   PUBMED   12487023
  REMARK    GeneRIF: cDNA cloning; the hPB1 gene is located on chromosome 3p21,
            where the tumor suppressor genes for breast, lung and kidney
            cancers have been mapped
REFERENCE   7  (residues 1 to 1652)
  AUTHORS   Phelan ML, Sif S, Narlikar GJ and Kingston RE.
  TITLE     Reconstitution of a core chromatin remodeling complex from SWI/SNF
            subunits
  JOURNAL   Mol Cell 3 (2), 247-253 (1999)
   PUBMED   10078207
REFERENCE   8  (residues 1 to 1652)
  AUTHORS   Reyes JC, Muchardt C and Yaniv M.
  TITLE     Components of the human SWI/SNF complex are enriched in active
            chromatin and are associated with the nuclear matrix
  JOURNAL   J Cell Biol 137 (2), 263-274 (1997)
   PUBMED   9128241
REFERENCE   9  (residues 1 to 1652)
  AUTHORS   Wang W, Cote J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C,
            Kalpana GV, Goff SP, Yaniv M, Workman JL and Crabtree GR.
  TITLE     Purification and biochemical heterogeneity of the mammalian SWI-SNF
            complex
  JOURNAL   EMBO J 15 (19), 5370-5382 (1996)
   PUBMED   8895581
REFERENCE   10 (residues 1 to 1652)
  AUTHORS   Wang W, Xue Y, Zhou S, Kuo A, Cairns BR and Crabtree GR.
  TITLE     Diversity and specialization of mammalian SWI/SNF complexes
  JOURNAL   Genes Dev 10 (17), 2117-2130 (1996)
   PUBMED   8804307
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104446.2 and AC112215.3.
            
            Summary: This locus encodes a subunit of ATP-dependent
            chromatin-remodeling complexes. The encoded protein has been
            identified as in integral component of complexes necessary for
            ligand-dependent transcriptional activation by nuclear hormone
            receptors. Mutations at this locus have been associated with
            primary clear cell renal cell carcinoma. [provided by RefSeq, Feb
            2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1556615.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1652
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.1"
     Protein         1..1652
                     /product="protein polybromo-1 isoform 17"
                     /note="polybromo-1D; BRG1-associated factor 180"
                     /calculated_mol_wt=189033
     Region          62..174
                     /region_name="Bromo_polybromo_I"
                     /note="Bromodomain, polybromo repeat I. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05524"
                     /db_xref="CDD:99954"
     Site            order(94,99,102,141,145,151)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99954"
     Region          200..302
                     /region_name="Bromo_polybromo_II"
                     /note="Bromodomain, polybromo repeat II. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05517"
                     /db_xref="CDD:99948"
     Site            order(230,235,238,277,281,287)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99948"
     Region          401..502
                     /region_name="Bromo_polybromo_III"
                     /note="Bromodomain, polybromo repeat III. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05520"
                     /db_xref="CDD:99951"
     Site            order(430,435,438,477,481,487)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99951"
     Region          537..640
                     /region_name="Bromo_polybromo_IV"
                     /note="Bromodomain, polybromo repeat IV. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05518"
                     /db_xref="CDD:99949"
     Site            order(568,573,576,615,619,625)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99949"
     Region          676..780
                     /region_name="Bromo_polybromo_V"
                     /note="Bromodomain, polybromo repeat V. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05515"
                     /db_xref="CDD:99946"
     Site            order(706,711,714,753,757,763)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99946"
     Region          793..900
                     /region_name="Bromo_polybromo_VI"
                     /note="Bromodomain, polybromo repeat VI. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05526"
                     /db_xref="CDD:99956"
     Site            order(826,827,830,869,873,879)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99956"
     Region          975..1092
                     /region_name="BAH_polybromo"
                     /note="BAH, or Bromo Adjacent Homology domain, as present
                     in polybromo and yeast RSC1/2. The human polybromo protein
                     (BAF180) is a component of the SWI/SNF
                     chromatin-remodeling complex PBAF. It is thought that
                     polybromo participates in transcriptional...; cd04717"
                     /db_xref="CDD:240068"
     Region          1173..1291
                     /region_name="BAH_polybromo"
                     /note="BAH, or Bromo Adjacent Homology domain, as present
                     in polybromo and yeast RSC1/2. The human polybromo protein
                     (BAF180) is a component of the SWI/SNF
                     chromatin-remodeling complex PBAF. It is thought that
                     polybromo participates in transcriptional...; cd04717"
                     /db_xref="CDD:240068"
     Region          1398..1453
                     /region_name="HMG-box_PB1"
                     /note="high mobility group (HMG)-box found in protein
                     polybromo-1 (PB1) and similar proteins; cd21984"
                     /db_xref="CDD:438800"
     Site            order(1398..1399,1401..1405,1408..1409,1416,1428..1429,
                     1432,1435..1436,1443,1447,1450)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438800"
     CDS             1..1652
                     /gene="PBRM1"
                     /gene_synonym="BAF180; PB1; RCC; SMARCH1"
                     /coded_by="NM_001405600.1:445..5403"
                     /note="isoform 17 is encoded by transcript variant 67"
                     /db_xref="GeneID:55193"
                     /db_xref="HGNC:HGNC:30064"
                     /db_xref="MIM:606083"
ORIGIN      
        1 mrrlafrgag calkkldsmg skrrratsps ssvsgdfddg hhsvstpgps rkrrrlsnlp
       61 tvdpiavche lyntirdykd eqgrllcelf irapkrrnqp dyyevvsqpi dlmkiqqklk
      121 meeyddvnll tadfqllfnn aksyykpdsp eykaacklwd lylrtrnefv qkgeaddedd
      181 dedgqdnqgt vtegsspayl keileqllea ivvatnpsgr liselfqklp skvqypdyya
      241 iikepidlkt iaqriqngsy ksihamakdi dllaknakty nepgsqvfkd ansikkifym
      301 kkaeiehhem aksslrmrtp snlaaarltg pshskgslge ernptskyyr nkravqggrl
      361 saitmalqyg seseedaala aaryeegese aesitsfmdv snpfyqlydt vrscrnnqgq
      421 liaepfyhlp skkkypdyyq qikmpislqq irtklknqey etldhlecdl nlmfenakry
      481 nvpnsaiykr vlklqqvmqa kkkelarrdd iedgdsmiss atsdtgsakr kskknirkqr
      541 mkilfnvvle arepgsgrrl cdlfmvkpsk kdypdyykii lepmdlkiie hnirndkyag
      601 eegmiedmkl mfrnarhyne egsqvyndah ilekllkekr kelgplpddd dmaspklkls
      661 rksgispkks kymtpmqqkl nevyeavkny tdkrgrrlsa iflrlpsrse lpdyyltikk
      721 pmdmekirsh mmankyqdid smvedfvmmf nnactynepe sliykdalvl hkvlletrrd
      781 legdedshvp nvtlliqeli hnlfvsvmsh qddegrcysd slaeipavdp nfpnkppltf
      841 diirknvenn ryrrldlfqe hmfevlerar rmnrtdseiy edavelqqff ikirdelckn
      901 geillspals yttkhlhndv ekerkeklpk eieedklkre eekreaekse dssgaaglsg
      961 lhrtysqdcs fknsmyhvgd yvyvepaean lqphivcier lwedsagekw lygcwfyrpn
     1021 etfhlatrkf lekevfksdy ynkvpvskil gkcvvmfvke yfklcpenfr dedvfvcesr
     1081 ysaktksfkk iklwtmpiss vrfvprdvpl pvvrvasvfa nadkgddekn tdnsedsrae
     1141 dnfnlekeke dvpvemsnge pgchyfeqlh yndmwlkvgd cvfikshglv rprvgriekv
     1201 wvrdgaayfy gpifihpeet eheptkmfyk kevflsnlee tcpmtcilgk cavlsfkdfl
     1261 scrpteipen dillcesryn esdkqmkkfk glkrfslsak vvddeiyyfr kpivpqkeps
     1321 pllekkiqll eakfaelegg dddieemgee dsevieppsl pqlqtplase ldlmpytppq
     1381 stpksakgsa kkegskrkin msgyilfsse mravikaqhp dysfgelsrl vgtewrnlet
     1441 akkaeyegmm ggyppglppl qgpvdglvsm gsmqplhpgg ppphhlppgv pglpgipppg
     1501 vmnqgvapmv gtpapggspy gqqvgvlgpp gqqapppypg phpagppviq qpttpmfvap
     1561 ppktqrllhs eaylkyiegl saesnsiskw dqtlaarrrd vhlskeqesr lpshwlkskg
     1621 ahttmadalw rlrdlmlrdt lnirqaynle nv
//
LOCUS       NP_001244303             574 aa            linear   PRI 23-MAR-2023
DEFINITION  lamin isoform D [Homo sapiens].
ACCESSION   NP_001244303
VERSION     NP_001244303.1
DBSOURCE    REFSEQ: accession NM_001257374.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 574)
  AUTHORS   McClintock D, Ratner D, Lokuge M, Owens DM, Gordon LB, Collins FS
            and Djabali K.
  TITLE     The mutant form of lamin A that causes Hutchinson-Gilford progeria
            is a biomarker of cellular aging in human skin
  JOURNAL   PLoS One 2 (12), e1269 (2007)
   PUBMED   18060063
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 574)
  AUTHORS   Scaffidi P and Misteli T.
  TITLE     Lamin A-dependent nuclear defects in human aging
  JOURNAL   Science 312 (5776), 1059-1063 (2006)
   PUBMED   16645051
  REMARK    GeneRIF: observations implicate lamin A in physiological aging
REFERENCE   3  (residues 1 to 574)
  AUTHORS   De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J,
            Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M and Levy
            N.
  TITLE     Lamin a truncation in Hutchinson-Gilford progeria
  JOURNAL   Science 300 (5628), 2055 (2003)
   PUBMED   12702809
  REMARK    GeneRIF: Hutchinson-Gilford progeria appears to represent a novel
            laminopathy, caused by a single heterozygous splicing mutation in
            the LMNA gene, leading to a major loss of Lamin A expression,
            intimately associated to nuclear alterations
REFERENCE   4  (residues 1 to 574)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     LMNA-Related Dilated Cardiomyopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301717
REFERENCE   5  (residues 1 to 574)
  AUTHORS   Bonne,G., Leturcq,F. and Ben Yaou,R.
  TITLE     Emery-Dreifuss Muscular Dystrophy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301609
REFERENCE   6  (residues 1 to 574)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   7  (residues 1 to 574)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   8  (residues 1 to 574)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
REFERENCE   9  (residues 1 to 574)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301468
REFERENCE   10 (residues 1 to 574)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301462
REFERENCE   11 (residues 1 to 574)
  AUTHORS   Gordon,L.B., Brown,W.T. and Collins,F.S.
  TITLE     Hutchinson-Gilford Progeria Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301300
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK295390.1, BC018863.2,
            AL135927.14 and AI872233.1.
            
            Summary: The protein encoded by this gene is part of the nuclear
            lamina, a two-dimensional matrix of proteins located next to the
            inner nuclear membrane. The lamin family of proteins make up the
            matrix and are highly conserved in evolution. During mitosis, the
            lamina matrix is reversibly disassembled as the lamin proteins are
            phosphorylated. Lamin proteins are thought to be involved in
            nuclear stability, chromatin structure and gene expression.
            Vertebrate lamins consist of two types, A and B. Alternative
            splicing results in multiple transcript variants. Mutations in this
            gene lead to several diseases: Emery-Dreifuss muscular dystrophy,
            familial partial lipodystrophy, limb girdle muscular dystrophy,
            dilated cardiomyopathy, Charcot-Marie-Tooth disease, and
            Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May
            2022].
            
            Transcript Variant: This variant (4) represents use of an alternate
            promoter and uses an alternate 3' exon structure compared to
            variant 1. The resulting protein (isoform D) has distinct N- and
            C-termini and is shorter than isoform A.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK295390.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..574
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     Protein         1..574
                     /product="lamin isoform D"
                     /note="lamin A/C-like 1; 70 kDa lamin; prelamin-A/C; lamin
                     C; renal carcinoma antigen NY-REN-32; mandibuloacral
                     dysplasia type A; epididymis secretory sperm binding
                     protein"
                     /calculated_mol_wt=63762
     Region          17..274
                     /region_name="Filament"
                     /note="Intermediate filament protein; pfam00038"
                     /db_xref="CDD:425436"
     Region          322..429
                     /region_name="LTD"
                     /note="Lamin Tail Domain; pfam00932"
                     /db_xref="CDD:425951"
     CDS             1..574
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /coded_by="NM_001257374.3:35..1759"
                     /note="isoform D is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS58038.1"
                     /db_xref="GeneID:4000"
                     /db_xref="HGNC:HGNC:6636"
                     /db_xref="MIM:150330"
ORIGIN      
        1 mgnsegcntk kegdliaaqa rlkdlealln skeaalstal sekrtlegel hdlrgqvakl
       61 eaalgeakkq lqdemlrrvd aenrlqtmke eldfqkniys eelretkrrh etrlveidng
      121 kqrefesrla dalqelraqh edqveqykke lektysakld narqsaerns nlvgaaheel
      181 qqsriridsl saqlsqlqkq laakeaklrd ledslarerd tsrrllaeke remaemrarm
      241 qqqldeyqel ldiklaldme ihayrklleg eeerlrlsps ptsqrsrgra sshssqtqgg
      301 gsvtkkrkle stesrssfsq hartsgrvav eevdeegkfv rlrnksnedq smgnwqikrq
      361 ngddplltyr fppkftlkag qvvtiwaaga gathspptdl vwkaqntwgc gnslrtalin
      421 stgeevamrk lvrsvtvved dededgddll hhhhgshcss sgdpaeynlr srtvlcgtcg
      481 qpadkasasg sgaqvggpis sgssassvtv trsyrsvggs gggsfgdnlv trsyllgnss
      541 prtqspqncs iiqemgmrwe veegrrkvsl sclp
//
LOCUS       NP_001394657            1816 aa            linear   PRI 25-MAR-2023
DEFINITION  breast cancer type 1 susceptibility protein isoform 3 [Homo
            sapiens].
ACCESSION   NP_001394657
VERSION     NP_001394657.1
DBSOURCE    REFSEQ: accession NM_001407728.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1816)
  AUTHORS   Orban TI and Olah E.
  TITLE     Emerging roles of BRCA1 alternative splicing
  JOURNAL   Mol Pathol 56 (4), 191-197 (2003)
   PUBMED   12890739
  REMARK    Review article
REFERENCE   2  (residues 1 to 1816)
  AUTHORS   Orban TI and Olah E.
  TITLE     Expression profiles of BRCA1 splice variants in asynchronous and in
            G1/S synchronized tumor cell lines
  JOURNAL   Biochem Biophys Res Commun 280 (1), 32-38 (2001)
   PUBMED   11162473
REFERENCE   3  (residues 1 to 1816)
  AUTHORS   Paterson JW.
  TITLE     BRCA1: a review of structure and putative functions
  JOURNAL   Dis Markers 13 (4), 261-274 (1998)
   PUBMED   9553742
  REMARK    Review article
REFERENCE   4  (residues 1 to 1816)
  AUTHORS   Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S,
            Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E.
  TITLE     Mutations and alternative splicing of the BRCA1 gene in UK
            breast/ovarian cancer families
  JOURNAL   Genes Chromosomes Cancer 18 (2), 102-110 (1997)
   PUBMED   9115959
REFERENCE   5  (residues 1 to 1816)
  AUTHORS   Wilson CA, Payton MN, Elliott GS, Buaas FW, Cajulis EE, Grosshans
            D, Ramos L, Reese DM, Slamon DJ and Calzone FJ.
  TITLE     Differential subcellular localization, expression and biological
            toxicity of BRCA1 and the splice variant BRCA1-delta11b
  JOURNAL   Oncogene 14 (1), 1-16 (1997)
   PUBMED   9010228
REFERENCE   6  (residues 1 to 1816)
  AUTHORS   Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, Yao J, Farid
            LM, Couch FJ, Wilson RB and Weber BL.
  TITLE     Localization of BRCA1 and a splice variant identifies the nuclear
            localization signal
  JOURNAL   Mol Cell Biol 17 (1), 444-452 (1997)
   PUBMED   8972225
REFERENCE   7  (residues 1 to 1816)
  AUTHORS   Lu M, Conzen SD, Cole CN and Arrick BA.
  TITLE     Characterization of functional messenger RNA splice variants of
            BRCA1 expressed in nonmalignant and tumor-derived breast cells
  JOURNAL   Cancer Res 56 (20), 4578-4581 (1996)
   PUBMED   8840964
REFERENCE   8  (residues 1 to 1816)
  AUTHORS   Holt JT, Thompson ME, Szabo C, Robinson-Benion C, Arteaga CL, King
            MC and Jensen RA.
  TITLE     Growth retardation and tumour inhibition by BRCA1
  JOURNAL   Nat Genet 12 (3), 298-302 (1996)
   PUBMED   8589721
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
REFERENCE   9  (residues 1 to 1816)
  AUTHORS   Xu CF, Brown MA, Chambers JA, Griffiths B, Nicolai H and Solomon E.
  TITLE     Distinct transcription start sites generate two forms of BRCA1 mRNA
  JOURNAL   Hum Mol Genet 4 (12), 2259-2264 (1995)
   PUBMED   8634696
REFERENCE   10 (residues 1 to 1816)
  AUTHORS   Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K,
            Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al.
  TITLE     A strong candidate for the breast and ovarian cancer susceptibility
            gene BRCA1
  JOURNAL   Science 266 (5182), 66-71 (1994)
   PUBMED   7545954
REFERENCE   11 (residues 1 to 1816)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
REFERENCE   12 (residues 1 to 1816)
  AUTHORS   Petrucelli,N., Daly,M.B. and Pal,T.
  TITLE     BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135721.4.
            
            Summary: This gene encodes a 190 kD nuclear phosphoprotein that
            plays a role in maintaining genomic stability, and it also acts as
            a tumor suppressor. The BRCA1 gene contains 22 exons spanning about
            110 kb of DNA. The encoded protein combines with other tumor
            suppressors, DNA damage sensors, and signal transducers to form a
            large multi-subunit protein complex known as the BRCA1-associated
            genome surveillance complex (BASC). This gene product associates
            with RNA polymerase II, and through the C-terminal domain, also
            interacts with histone deacetylase complexes. This protein thus
            plays a role in transcription, DNA repair of double-stranded
            breaks, and recombination. Mutations in this gene are responsible
            for approximately 40% of inherited breast cancers and more than 80%
            of inherited breast and ovarian cancers. Alternative splicing plays
            a role in modulating the subcellular localization and physiological
            function of this gene. Many alternatively spliced transcript
            variants, some of which are disease-associated mutations, have been
            described for this gene, but the full-length natures of only some
            of these variants has been described. A related pseudogene, which
            is also located on chromosome 17, has been identified. [provided by
            RefSeq, May 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.132284.1,
                                           SRR14372079.3039765.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1816
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..1816
                     /product="breast cancer type 1 susceptibility protein
                     isoform 3"
                     /EC_number="2.3.2.27"
                     /note="BRCA1/BRCA2-containing complex, subunit 1; RING
                     finger protein 53; breast cancer type 1 susceptibility
                     protein; breast and ovarian cancer susceptibility protein
                     1; protein phosphatase 1, regulatory subunit 53; Fanconi
                     anemia, complementation group S; early onset breast cancer
                     1; breast cancer 1, early onset"
                     /calculated_mol_wt=202212
     Region          <1..52
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Region          298..460
                     /region_name="BRCT_assoc"
                     /note="Serine-rich domain associated with BRCT; pfam12820"
                     /db_xref="CDD:432806"
     Region          1603..1699
                     /region_name="BRCT_BRCA1_rpt1"
                     /note="first BRCT domain of breast cancer type 1
                     susceptibility protein (BRCA1) and similar proteins;
                     cd17735"
                     /db_xref="CDD:349367"
     Site            order(1607..1609,1611,1651..1655,1657,1693)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349367"
     Region          1711..1808
                     /region_name="BRCT_BRCA1_rpt2"
                     /note="second (C-terminal) BRCT domain of breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd17721"
                     /db_xref="CDD:349353"
     Site            order(1727..1728,1788..1789,1793,1805..1806)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349353"
     CDS             1..1816
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /coded_by="NM_001407728.1:150..5600"
                     /note="isoform 3 is encoded by transcript variant 111"
                     /db_xref="GeneID:672"
                     /db_xref="HGNC:HGNC:1100"
                     /db_xref="MIM:113705"
ORIGIN      
        1 mlkllnqkkg psqcplcknd itkrslqest rfsqlveell kiicafqldt gleyansynf
       61 akkennspeh lkdevsiiqs mgyrnrakrl lqsepenpsl qetslsvqls nlgtvrtlrt
      121 kqriqpqkts vyielgsdss edtvnkatyc svgdqellqi tpqgtrdeis ldsakkaace
      181 fsetdvtnte hhqpsnndln ttekraaerh pekyqgssvs nlhvepcgtn thasslqhen
      241 ssllltkdrm nvekaefcnk skqpglarsq hnrwagsket cndrrtpste kkvdlnadpl
      301 cerkewnkqk lpcsenprdt edvpwitlns siqkvnewfs rsdellgsdd shdgesesna
      361 kvadvldvln evdeysgsse kidllasdph ealickserv hsksvesnie dkifgktyrk
      421 kaslpnlshv tenliigafv tepqiiqerp ltnklkrkrr ptsglhpedf ikkadlavqk
      481 tpeminqgtn qteqngqvmn itnsghenkt kgdsiqnekn pnpiesleke safktkaepi
      541 sssisnmele lnihnskapk knrlrrksst rhihalelvv srnlsppnct elqidscsss
      601 eeikkkkynq mpvrhsrnlq lmegkepatg akksnkpneq tskrhdsdtf pelkltnapg
      661 sftkcsntse lkefvnpslp reekeeklet vkvsnnaedp kdlmlsgerv lqtersvess
      721 sislvpgtdy gtqesislle vstlgkakte pnkcvsqcaa fenpkglihg cskdnrndte
      781 gfkyplghev nhsretsiem eeseldaqyl qntfkvskrq sfapfsnpgn aeeecatfsa
      841 hsgslkkqsp kvtfeceqke enqgknesni kpvqtvnita gfpvvgqkdk pvdnakcsik
      901 ggsrfclssq frgnetglit pnkhgllqnp yripplfpik sfvktkckkn lleenfeehs
      961 msperemgne nipstvstis rnnirenvfk easssninev gsstnevgss ineigssden
     1021 iqaelgrnrg pklnamlrlg vlqpevykqs lpgsnckhpe ikkqeyeevv qtvntdfspy
     1081 lisdnleqpm gsshasqvcs etpddllddg eikedtsfae ndikessavf sksvqkgels
     1141 rspspfthth laqgyrrgak klesseenls sedeelpcfq hllfgkvnni psqstrhstv
     1201 ateclsknte enllslknsl ndcsnqvila kasqehhlse etkcsaslfs sqcseledlt
     1261 antntqdpfl igsskqmrhq sesqgvglsd kelvsddeer gtgleennqe eqsmdsnlge
     1321 aasgcesets vsedcsglss qsdilttqqr dtmqhnlikl qqemaeleav leqhgsqpsn
     1381 sypsiisdss aledlrnpeq stsekavlts qksseypisq npeglsadkf evsadsstsk
     1441 nkepgverss pskcpslddr wymhscsgsl qnrnypsqee likvvdveeq qleesgphdl
     1501 tetsylprqd legtpylesg islfsddpes dpsedrapes arvgnipsst salkvpqlkv
     1561 aesaqspaaa httdtagyna meesvsrekp eltastervn krmsmvvsgl tpeefmlvyk
     1621 farkhhitlt nliteetthv vmktdaefvc ertlkyflgi aggkwvvsyf wvtqsikerk
     1681 mlnehdfevr gdvvngrnhq gpkraresqd rkifrgleic cygpftnmpt dqlewmvqlc
     1741 gasvvkelss ftlgtgvhpi vvvqpdawte dngfhaigqm ceapvvtrew vldsvalyqc
     1801 qeldtylipq iphshy
//
LOCUS       NP_001161080             315 aa            linear   PRI 28-MAR-2023
DEFINITION  rhomboid-related protein 4 [Homo sapiens].
ACCESSION   NP_001161080
VERSION     NP_001161080.1
DBSOURCE    REFSEQ: accession NM_001167608.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 315)
  AUTHORS   Hsiao JM, Penalva YCM, Wu HY, Xiao B, Jansen G, Dejgaard K, Young
            JC and Munter LM.
  TITLE     Putative Protein Interactome of the Rhomboid Protease RHBDL4
  JOURNAL   Biochemistry 62 (6), 1209-1218 (2023)
   PUBMED   36857408
  REMARK    GeneRIF: Putative Protein Interactome of the Rhomboid Protease
            RHBDL4.
REFERENCE   2  (residues 1 to 315)
  AUTHORS   Wang T, Zhang X, Liu W, Sun C, Li Z and Zhao D.
  TITLE     Prognostic and Immunological Significance of Rhomboid Domain
            Containing Protein 1 in Multiple Primary Cancers
  JOURNAL   Comb Chem High Throughput Screen 26 (4), 682-695 (2023)
   PUBMED   35692140
  REMARK    GeneRIF: Prognostic and Immunological Significance of Rhomboid
            Domain Containing Protein 1 in Multiple Primary Cancers.
REFERENCE   3  (residues 1 to 315)
  AUTHORS   Jiang J, Cheng Y, Dai S, Zou B and Guo X.
  TITLE     Suppression of rhomboid domain-containing 1 produces anticancer
            effects in pancreatic adenocarcinoma through affection of the
            AKT/GSK-3beta/beta-catenin pathway
  JOURNAL   Environ Toxicol 37 (8), 1944-1956 (2022)
   PUBMED   35442567
  REMARK    GeneRIF: Suppression of rhomboid domain-containing 1 produces
            anticancer effects in pancreatic adenocarcinoma through affection
            of the AKT/GSK-3beta/beta-catenin pathway.
REFERENCE   4  (residues 1 to 315)
  AUTHORS   Freeman M.
  TITLE     The rhomboid-like superfamily: molecular mechanisms and biological
            roles
  JOURNAL   Annu Rev Cell Dev Biol 30, 235-254 (2014)
   PUBMED   25062361
  REMARK    Review article
REFERENCE   5  (residues 1 to 315)
  AUTHORS   Bergbold N and Lemberg MK.
  TITLE     Emerging role of rhomboid family proteins in mammalian biology and
            disease
  JOURNAL   Biochim Biophys Acta 1828 (12), 2840-2848 (2013)
   PUBMED   23562403
  REMARK    Review article
REFERENCE   6  (residues 1 to 315)
  AUTHORS   Lemberg MK.
  TITLE     Sampling the membrane: function of rhomboid-family proteins
  JOURNAL   Trends Cell Biol 23 (5), 210-217 (2013)
   PUBMED   23369641
  REMARK    Review article
REFERENCE   7  (residues 1 to 315)
  AUTHORS   Fleig L, Bergbold N, Sahasrabudhe P, Geiger B, Kaltak L and Lemberg
            MK.
  TITLE     Ubiquitin-dependent intramembrane rhomboid protease promotes ERAD
            of membrane proteins
  JOURNAL   Mol Cell 47 (4), 558-569 (2012)
   PUBMED   22795130
REFERENCE   8  (residues 1 to 315)
  AUTHORS   Wan C, Fu J, Wang Y, Miao S, Song W and Wang L.
  TITLE     Exosome-related multi-pass transmembrane protein TSAP6 is a target
            of rhomboid protease RHBDD1-induced proteolysis
  JOURNAL   PLoS One 7 (5), e37452 (2012)
   PUBMED   22624035
  REMARK    GeneRIF: RHBDD1 is involved in the regulation of a nonclassical
            exosomal secretion pathway through the restriction of TSAP6.
REFERENCE   9  (residues 1 to 315)
  AUTHORS   Urban S and Dickey SW.
  TITLE     The rhomboid protease family: a decade of progress on function and
            mechanism
  JOURNAL   Genome Biol 12 (10), 231 (2011)
   PUBMED   22035660
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   10 (residues 1 to 315)
  AUTHORS   Wang Y, Guan X, Fok KL, Li S, Zhang X, Miao S, Zong S, Koide SS,
            Chan HC and Wang L.
  TITLE     A novel member of the Rhomboid family, RHBDD1, regulates
            BIK-mediated apoptosis
  JOURNAL   Cell Mol Life Sci 65 (23), 3822-3829 (2008)
   PUBMED   18953687
  REMARK    GeneRIF: RHBDD1, a serine protease, modulates BIK-mediated
            apoptotic activity.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010735.11, DB024396.1, AC073149.5 and CA434330.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1-5 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.63754.1,
                                           SRR1803614.264417.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392062.7/ ENSP00000375914.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..315
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q36.3"
     Protein         1..315
                     /product="rhomboid-related protein 4"
                     /EC_number="3.4.21.105"
                     /note="rhomboid domain-containing protein 1; rhomboid-like
                     protein 4"
                     /calculated_mol_wt=35692
     Site            22..42
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1)"
     Region          65..206
                     /region_name="Rhomboid"
                     /note="Rhomboid family; cl21536"
                     /db_xref="CDD:419717"
     Site            107..127
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1)"
     Site            139..157
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1)"
     Site            181..201
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1)"
     Region          269..284
                     /region_name="Ubiquitin-binding domain (UBD).
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1)"
     Region          283..315
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1)"
     Region          301..315
                     /region_name="VCP/p97-interacting motif (VIM).
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1)"
     CDS             1..315
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /coded_by="NM_001167608.3:426..1373"
                     /db_xref="CCDS:CCDS2464.1"
                     /db_xref="GeneID:84236"
                     /db_xref="HGNC:HGNC:23081"
                     /db_xref="MIM:617515"
ORIGIN      
        1 mqrrsrgint glilllsqif hvginnippv tlatlalniw fflnpqkply ssclsvekcy
       61 qqkdwqrlll splhhaddwh lyfnmasmlw kginlerrlg srwfayvita fsvltgvvyl
      121 llqfavaefm depdfkrsca vgfsgvlfal kvlnnhycpg gfvnilgfpv pnrfacwvel
      181 vaihlfspgt sfaghlagil vglmytqgpl kkimeacagg fsssvgypgr qyyfnssgss
      241 gyqdyyphgr pdhyeeaprn ydtytaglse eeqleralqa slwdrgntrn spppygfhls
      301 peemrrqrlh rfdsq
//
LOCUS       NP_001245172             115 aa            linear   PRI 02-APR-2023
DEFINITION  transmembrane protein 218 isoform 2 [Homo sapiens].
ACCESSION   NP_001245172
VERSION     NP_001245172.2
DBSOURCE    REFSEQ: accession NM_001258243.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 115)
  AUTHORS   Epting D, Decker E, Ott E, Eisenberger T, Bader I, Bachmann N and
            Bergmann C.
  TITLE     The ciliary transition zone protein TMEM218 synergistically
            interacts with the NPHP module and its reduced dosage leads to a
            wide range of syndromic ciliopathies
  JOURNAL   Hum Mol Genet 31 (14), 2295-2306 (2022)
   PUBMED   35137054
REFERENCE   2  (residues 1 to 115)
  AUTHORS   Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg
            D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E,
            Klaver CCW, Houlden H, Eslahi A, Waters AM, Bamshad MJ, Nickerson
            DA, Aggarwal VS, de Vries BBA, Maroofian R and Doherty D.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     TMEM218 dysfunction causes ciliopathies, including Joubert and
            Meckel syndromes
  JOURNAL   HGG Adv 2 (1) (2021)
   PUBMED   33791682
REFERENCE   3  (residues 1 to 115)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 115)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 115)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (residues 1 to 115)
  AUTHORS   Li C, Jensen VL, Park K, Kennedy J, Garcia-Gonzalo FR, Romani M, De
            Mori R, Bruel AL, Gaillard D, Doray B, Lopez E, Riviere JB, Faivre
            L, Thauvin-Robinet C, Reiter JF, Blacque OE, Valente EM and Leroux
            MR.
  TITLE     MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary
            Transition Zone
  JOURNAL   PLoS Biol 14 (3), e1002416 (2016)
   PUBMED   26982032
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001007.5.
            On Sep 25, 2020 this sequence version replaced NP_001245172.1.
            
            Transcript Variant: This variant (1) encodes isoform 2. Variants
            1-11 and 19-37 all encode the same isoform (2).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC144270.1, SRR18074967.3565034.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2155371
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..115
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     Protein         1..115
                     /product="transmembrane protein 218 isoform 2"
                     /calculated_mol_wt=12328
     Site            5..25
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (A2RU14.1)"
     Site            38..58
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (A2RU14.1)"
     Site            81..101
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (A2RU14.1)"
     CDS             1..115
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /coded_by="NM_001258243.3:441..788"
                     /note="isoform 2 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS31715.1"
                     /db_xref="GeneID:219854"
                     /db_xref="HGNC:HGNC:27344"
                     /db_xref="MIM:619285"
ORIGIN      
        1 magtvlgvga gvfilallwv avlllcvlls rasgaarfsv iflffgavii tsvlllfpra
       61 gefpapevev kivddffigr yvllaflsai flgglflvli hyvlepiyak plhsy
//
LOCUS       NP_001317916             127 aa            linear   PRI 02-APR-2023
DEFINITION  transmembrane protein 230 isoform 3 [Homo sapiens].
ACCESSION   NP_001317916 XP_016883324
VERSION     NP_001317916.1
DBSOURCE    REFSEQ: accession NM_001330987.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 127)
  AUTHORS   Wang X, Guo G, Zhang J, Aebez N, Liu Z, Liu CF, Ross CA and Smith
            WW.
  TITLE     Mutant-TMEM230-induced neurodegeneration and impaired axonal
            mitochondrial transport
  JOURNAL   Hum Mol Genet 30 (16), 1535-1542 (2021)
   PUBMED   34002226
REFERENCE   2  (residues 1 to 127)
  AUTHORS   Wang X, Whelan E, Liu Z, Liu CF and Smith WW.
  TITLE     Controversy of TMEM230 Associated with Parkinson's Disease
  JOURNAL   Neuroscience 453, 280-286 (2021)
   PUBMED   33212219
  REMARK    GeneRIF: Controversy of TMEM230 Associated with Parkinson's
            Disease.
            Review article
REFERENCE   3  (residues 1 to 127)
  AUTHORS   Procopio R, Gagliardi M, Nicoletti G, Morelli M, Annesi G and
            Quattrone A.
  TITLE     Analysis of the TMEM230 gene in familial Parkinson's disease from
            south Italy
  JOURNAL   J Neurol Sci 404, 16-18 (2019)
   PUBMED   31323517
  REMARK    GeneRIF: Analysis of the TMEM230 gene in familial Parkinson's
            disease from south Italy.
REFERENCE   4  (residues 1 to 127)
  AUTHORS   Procopio R, Gagliardi M, Brighina L, Nicoletti G, Morelli M, Piatti
            M, Annesi G and Quattrone A.
  TITLE     Analysis of the TMEM230 gene in patients with multiple system
            atrophy
  JOURNAL   J Neurol Sci 392, 128-129 (2018)
   PUBMED   30056200
  REMARK    GeneRIF: No pathogenic TMEM230 variants were detect in patient with
            multiple system atrophy.
REFERENCE   5  (residues 1 to 127)
  AUTHORS   Tejera-Parrado C, Jesus S, Lopez-Ruiz A, Buiza-Rueda D,
            Bonilla-Toribio M, Bernal-Bernal I, Perinan MT, Vargas-Gonzalez L,
            Gomez-Garre P and Mir P.
  TITLE     TMEM230 in Parkinson's disease in a southern Spanish population
  JOURNAL   PLoS One 13 (5), e0197271 (2018)
   PUBMED   29771939
  REMARK    GeneRIF: Findings suggest that the incidence of pathogenic
            variations in TMEM230 is very low and, therefore, TMEM230 do not
            play a major role in familial and sporadic Parkinson's disease
            patients in southern Spanish population which can have important
            implication in clinical investigation.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 127)
  AUTHORS   Deng HX, Shi Y, Yang Y, Ahmeti KB, Miller N, Huang C, Cheng L, Zhai
            H, Deng S, Nuytemans K, Corbett NJ, Kim MJ, Deng H, Tang B, Yang Z,
            Xu Y, Chan P, Huang B, Gao XP, Song Z, Liu Z, Fecto F, Siddique N,
            Foroud T, Jankovic J, Ghetti B, Nicholson DA, Krainc D, Melen O,
            Vance JM, Pericak-Vance MA, Ma YC, Rajput AH and Siddique T.
  TITLE     Identification of TMEM230 mutations in familial Parkinson's disease
  JOURNAL   Nat Genet 48 (7), 733-739 (2016)
   PUBMED   27270108
  REMARK    GeneRIF: TMEM230 mutation is associated with Parkinson's disease.
REFERENCE   7  (residues 1 to 127)
  AUTHORS   Casabonne D, Reina O, Benavente Y, Becker N, Maynadie M, Foretova
            L, Cocco P, Gonzalez-Neira A, Nieters A, Boffetta P, Middeldorp JM
            and de Sanjose S.
  TITLE     Single nucleotide polymorphisms of matrix metalloproteinase 9
            (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus
            in chronic lymphocytic leukemia: results from the European
            case-control study EpiLymph
  JOURNAL   Haematologica 96 (2), 323-327 (2011)
   PUBMED   21048031
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   8  (residues 1 to 127)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (residues 1 to 127)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   10 (residues 1 to 127)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK309823.1 and AL121890.34.
            On Sep 3, 2016 this sequence version replaced XP_016883324.1.
            
            Summary: This gene encodes a multi-pass transmembrane protein that
            belongs to the TMEM134/TMEM230 protein family. The encoded protein
            localizes to secretory and recycling vesicle in the neuron and may
            be involved in synaptic vesicles trafficking and recycling.
            Mutations in this gene may be linked to familial Parkinson's
            disease. [provided by RefSeq, Mar 2017].
            
            Transcript Variant: This variant (8) lacks an exon in the 5'
            region, uses a downstream AUG codon for translation initiation, and
            has an alternate 3' terminal exon, as compared to variant 1. The
            encoded isoform (3) has a shorter N-terminus and a distinct
            C-terminus, as compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK309823.1, DA200466.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154405 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..127
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13-p12.3"
     Protein         1..127
                     /product="transmembrane protein 230 isoform 3"
                     /note="UPF0414 transmembrane protein C20orf30"
                     /calculated_mol_wt=13455
     Site            15
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96A57.1)"
     Site            23
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q96A57.1)"
     Site            24
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96A57.1)"
     Site            46..66
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A57.1)"
     CDS             1..127
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /coded_by="NM_001330987.2:132..515"
                     /note="isoform 3 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS82597.1"
                     /db_xref="GeneID:29058"
                     /db_xref="HGNC:HGNC:15876"
                     /db_xref="MIM:617019"
ORIGIN      
        1 mmpsrtnlat gipsskvkys rlsstddgyi dlqfkktppk ipykaialat vlfligafli
       61 iigslllsgy iskgslests reqkkadhkh lpasrgymmg gisgrspegg lssrlpegrg
      121 tqvsspd
//
LOCUS       NP_955473                642 aa            linear   PRI 03-APR-2023
DEFINITION  zinc finger protein 334 isoform b [Homo sapiens].
ACCESSION   NP_955473
VERSION     NP_955473.1
DBSOURCE    REFSEQ: accession NM_199441.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 642)
  AUTHORS   Yang B, Tang H, Wang N, Gu J and Wang Q.
  TITLE     Targeted DNA demethylation of the ZNF334 promoter inhibits
            colorectal cancer growth
  JOURNAL   Cell Death Dis 14 (3), 210 (2023)
   PUBMED   36966142
  REMARK    GeneRIF: Targeted DNA demethylation of the ZNF334 promoter inhibits
            colorectal cancer growth.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 642)
  AUTHORS   Sun D, Gan X, Liu L, Yang Y, Ding D, Li W, Jiang J, Ding W, Zhao L,
            Hou G, Yu J, Wang J, Yang F, Yuan S and Zhou W.
  TITLE     DNA hypermethylation modification promotes the development of
            hepatocellular carcinoma by depressing the tumor suppressor gene
            ZNF334
  JOURNAL   Cell Death Dis 13 (5), 446 (2022)
   PUBMED   35534462
  REMARK    GeneRIF: DNA hypermethylation modification promotes the development
            of hepatocellular carcinoma by depressing the tumor suppressor gene
            ZNF334.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 642)
  AUTHORS   Cheng Z, Yu R, Li L, Mu J, Gong Y, Wu F, Liu Y, Zhou X, Zeng X, Wu
            Y, Sun R and Xiang T.
  TITLE     Disruption of ZNF334 promotes triple-negative breast carcinoma
            malignancy through the SFRP1/ Wnt/beta-catenin signaling axis
  JOURNAL   Cell Mol Life Sci 79 (5), 280 (2022)
   PUBMED   35507080
  REMARK    GeneRIF: Disruption of ZNF334 promotes triple-negative breast
            carcinoma malignancy through the SFRP1/ Wnt/beta-catenin signaling
            axis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 642)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 642)
  AUTHORS   Henc I, Soroczynska-Cybula M, Bryl E and Witkowski JM.
  TITLE     The in vitro modulatory effect of TNFalpha on the mRNA expression
            and protein levels of zinc finger protein ZNF334 in CD4(+)
            lymphocytes of healthy people
  JOURNAL   Acta Biochim Pol 62 (1), 113-117 (2015)
   PUBMED   25738173
  REMARK    GeneRIF: results obtained in vitro for helper lymphocytes of
            healthy individuals seem to mimic the regulatory effect of TNFalpha
            on the expression of ZNF334 in the cells of RA patients
REFERENCE   6  (residues 1 to 642)
  AUTHORS   Soroczynska-Cybula M, Bryl E, Smolenska Z and Witkowski JM.
  TITLE     Varying expression of four genes sharing a common regulatory
            sequence may differentiate rheumatoid arthritis from ageing effects
            on the CD4(+) lymphocytes
  JOURNAL   Immunology 132 (1), 78-86 (2011)
   PUBMED   20738421
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL034424.9, BC026321.1 and
            AL354745.11.
            
            Summary: This gene encodes a member of the C2H2 zinc finger family.
            The encoded protein contains a Krueppel-associated box, fourteen
            C2H2 zinc finger domains, and four C2H2-type/integrase DNA-binding
            domains. Decreased expression of this gene may be a marker for
            rheumatoid arthritis. Alternative splicing results in multiple
            transcript variants that encode different protein isoforms.
            [provided by RefSeq, Jul 2012].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.888861.1,
                                           SRR1803616.224711.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267750, SAMN03267782
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..642
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     Protein         1..642
                     /product="zinc finger protein 334 isoform b"
                     /calculated_mol_wt=74864
     Region          <1..32
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          174..193
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          201..221
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(206,208,210,212..213,216..217,220,234,236,240..241,
                     244..245,248,262,264,266,268..269,272..273,276)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          229..249
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          253..>302
                     /region_name="SUF4-like"
                     /note="N-terminal domain of Oryza sativa transcription
                     factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana
                     SUF4 (AtSUF4), and similar proteins; cd20908"
                     /db_xref="CDD:411020"
     Region          257..282
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          257..277
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(262,268,275,281,284,291)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411020"
     Region          281..636
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          285..305
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          285..302
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Site            order(290,292,294,296..297,300..301,304,318,320,324..325,
                     328..329,332,346,348,350,352..353,356..357,360)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          313..333
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          341..361
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          369..389
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          397..417
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          425..445
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          481..500
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          508..528
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(513,515,517,519..520,523..524,527,541,543,547..548,
                     551..552,555,569,571,573,575..576,579..580,583)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          536..556
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          564..584
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          592..612
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          620..640
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..642
                     /gene="ZNF334"
                     /coded_by="NM_199441.3:1325..3253"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="GeneID:55713"
                     /db_xref="HGNC:HGNC:15806"
ORIGIN      
        1 mlenysnlvs vgyhvskpdv ifkleqgeep wiveefsnqn ypdiddalek nkeiqdkhlt
       61 qtvffsnktl iterenvfgk tlnlgmnsvp srkmpykcnp ggnslktnse vivakksken
      121 rkipdgysgf gkhekshlgm kkyrynpmrk asnqnenlil hqniqilkqp fdynkcgktf
      181 fkrailitqk grqterkpne cnecrktfsk rstlivhqri htgekpyvcs dcrktfrvkt
      241 sltrhrriht gerpyecsec rktfidksal ivhqkihgge ksyecnecgk tffrksalae
      301 hfrshtgekp yeckecgnaf skksylvvhq rthrgekpne ckecgktffc qsaltahqri
      361 htgekpyecs ecektffcqs alnvhrrsht gekpyecsqc gkflctksal iahqithrgk
      421 ksyecnecgk ffchkstlti hqrthtgekh gvfnkcgris ivksncsqck rmntkenlye
      481 csehghavsk nshlivhqrt iwerpyecne cgrtycrksa lthhqrthtg qrpyecnecg
      541 ktfcqkfsfv ehqrthtgek pyecnecgks fchksafrvh rrihtgekpy ecnqcgktyr
      601 rlwtltehqk ihtgekpyec nkcektfrhk snfllhqksh ke
//
LOCUS       NP_002192                181 aa            linear   PRI 17-APR-2023
DEFINITION  interferon-stimulated gene 20 kDa protein isoform a [Homo sapiens].
ACCESSION   NP_002192
VERSION     NP_002192.2
DBSOURCE    REFSEQ: accession NM_002201.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 181)
  AUTHORS   El Kazzi P, Rabah N, Chamontin C, Poulain L, Ferron F, Debart F,
            Canard B, Misse D, Coutard B, Nisole S and Decroly E.
  TITLE     Internal RNA 2'O-methylation in the HIV-1 genome counteracts ISG20
            nuclease-mediated antiviral effect
  JOURNAL   Nucleic Acids Res 51 (6), 2501-2515 (2023)
   PUBMED   36354007
  REMARK    GeneRIF: Internal RNA 2'O-methylation in the HIV-1 genome
            counteracts ISG20 nuclease-mediated antiviral effect.
REFERENCE   2  (residues 1 to 181)
  AUTHORS   Cheng J, Fu J, Tan Q, Liu Z, Guo K, Zhang L, He J, Zhou B, Liu X,
            Li D and Fu J.
  TITLE     The regulation of ISG20 expression on SARS-CoV-2 infection in
            cancer patients and healthy individuals
  JOURNAL   Front Immunol 13, 958898 (2022)
   PUBMED   36177004
  REMARK    GeneRIF: The regulation of ISG20 expression on SARS-CoV-2 infection
            in cancer patients and healthy individuals.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 181)
  AUTHORS   Ding J, Aldo P, Roberts CM, Stabach P, Liu H, You Y, Qiu X, Jeong
            J, Maxwell A, Lindenbach B, Braddock D, Liao A and Mor G.
  TITLE     Placenta-derived interferon-stimulated gene 20 controls ZIKA virus
            infection
  JOURNAL   EMBO Rep 22 (10), e52450 (2021)
   PUBMED   34405956
  REMARK    GeneRIF: Placenta-derived interferon-stimulated gene 20 controls
            ZIKA virus infection.
REFERENCE   4  (residues 1 to 181)
  AUTHORS   Stadler D, Kachele M, Jones AN, Hess J, Urban C, Schneider J, Xia
            Y, Oswald A, Nebioglu F, Bester R, Lasitschka F, Ringelhan M, Ko C,
            Chou WM, Geerlof A, van de Klundert MA, Wettengel JM, Schirmacher
            P, Heikenwalder M, Schreiner S, Bartenschlager R, Pichlmair A,
            Sattler M, Unger K and Protzer U.
  TITLE     Interferon-induced degradation of the persistent hepatitis B virus
            cccDNA form depends on ISG20
  JOURNAL   EMBO Rep 22 (6), e49568 (2021)
   PUBMED   33969602
  REMARK    GeneRIF: Interferon-induced degradation of the persistent hepatitis
            B virus cccDNA form depends on ISG20.
REFERENCE   5  (residues 1 to 181)
  AUTHORS   Xiong,H., Zhang,X., Chen,X., Liu,Y., Duan,J. and Huang,C.
  TITLE     High expression of ISG20 predicts a poor prognosis in acute myeloid
            leukemia
  JOURNAL   Cancer Biomark 31 (3), 255-261 (2021)
   PUBMED   33896836
  REMARK    GeneRIF: High expression of ISG20 predicts a poor prognosis in
            acute myeloid leukemia.
REFERENCE   6  (residues 1 to 181)
  AUTHORS   Izmailova E, Bertley FM, Huang Q, Makori N, Miller CJ, Young RA and
            Aldovini A.
  TITLE     HIV-1 Tat reprograms immature dendritic cells to express
            chemoattractants for activated T cells and macrophages
  JOURNAL   Nat Med 9 (2), 191-197 (2003)
   PUBMED   12539042
REFERENCE   7  (residues 1 to 181)
  AUTHORS   Nguyen LH, Espert L, Mechti N and Wilson DM 3rd.
  TITLE     The human interferon- and estrogen-regulated ISG20/HEM45 gene
            product degrades single-stranded RNA and DNA in vitro
  JOURNAL   Biochemistry 40 (24), 7174-7179 (2001)
   PUBMED   11401564
REFERENCE   8  (residues 1 to 181)
  AUTHORS   Pentecost BT.
  TITLE     Expression and estrogen regulation of the HEM45 MRNA in human tumor
            lines and in the rat uterus
  JOURNAL   J Steroid Biochem Mol Biol 64 (1-2), 25-33 (1998)
   PUBMED   9569007
REFERENCE   9  (residues 1 to 181)
  AUTHORS   Gongora C, David G, Pintard L, Tissot C, Hua TD, Dejean A and
            Mechti N.
  TITLE     Molecular cloning of a new interferon-induced PML nuclear
            body-associated protein
  JOURNAL   J Biol Chem 272 (31), 19457-19463 (1997)
   PUBMED   9235947
REFERENCE   10 (residues 1 to 181)
  AUTHORS   Mattei MG, Tissot C, Gongora C and Mechti N.
  TITLE     Assignment of ISG20 encoding a new interferon-induced PML nuclear
            body-associated protein, to chromosome 15q26 by in situ
            hybridization
  JOURNAL   Cytogenet Cell Genet 79 (3-4), 286-287 (1997)
   PUBMED   9605874
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG759382.1, BC007922.2, BX339191.2, AK307769.1 and AC104259.14.
            On Feb 3, 2000 this sequence version replaced NP_002192.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Variants 1, 2, and 3 all encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.154782.1,
                                           SRR1660809.129679.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306072.10/ ENSP00000306565.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..181
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     Protein         1..181
                     /product="interferon-stimulated gene 20 kDa protein
                     isoform a"
                     /EC_number="3.1.13.1"
                     /note="interferon-stimulated gene 20 kDa protein;
                     estrogen-regulated transcript 45 protein; promyelocytic
                     leukemia nuclear body-associated protein ISG20; interferon
                     stimulated exonuclease gene 20kDa"
                     /calculated_mol_wt=20232
     Region          8..163
                     /region_name="DnaQ_like_exo"
                     /note="DnaQ-like (or DEDD) 3'-5' exonuclease domain
                     superfamily; cl10012"
                     /db_xref="CDD:447876"
     Site            order(11..14,89..90,92..94,154)
                     /site_type="active"
                     /db_xref="CDD:176647"
     Site            order(11,13,94,154)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:176647"
     Site            order(12..14,89..90,92..93,154)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:176647"
     CDS             1..181
                     /gene="ISG20"
                     /gene_synonym="CD25; HEM45"
                     /coded_by="NM_002201.6:86..631"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS10345.1"
                     /db_xref="GeneID:3669"
                     /db_xref="HGNC:HGNC:6130"
                     /db_xref="MIM:604533"
ORIGIN      
        1 magsrevvam dcemvglgph resglarcsl vnvhgavlyd kfirpegeit dyrtrvsgvt
       61 pqhmvgatpf avarleilql lkgklvvghd lkhdfqalke dmsgytiydt stdrllwrea
      121 kldhcrrvsl rvlserllhk siqnsllghs svedaratme lyqisqrira rrglprlavs
      181 d
//
LOCUS       NP_001352589             327 aa            linear   PRI 18-DEC-2022
DEFINITION  ligand-dependent nuclear receptor corepressor-like protein isoform
            4 [Homo sapiens].
ACCESSION   NP_001352589
VERSION     NP_001352589.1
DBSOURCE    REFSEQ: accession NM_001365660.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 327)
  AUTHORS   Alerasool N, Leng H, Lin ZY, Gingras AC and Taipale M.
  TITLE     Identification and functional characterization of transcriptional
            activators in human cells
  JOURNAL   Mol Cell 82 (3), 677-695 (2022)
   PUBMED   35016035
REFERENCE   2  (residues 1 to 327)
  AUTHORS   Beck DB, Subramanian T, Vijayalingam S, Ezekiel UR, Donkervoort S,
            Yang ML, Dubbs HA, Ortiz-Gonzalez XR, Lakhani S, Segal D, Au M,
            Graham JM Jr, Verma S, Waggoner D, Shinawi M, Bonnemann CG, Chung
            WK and Chinnadurai G.
  TITLE     A pathogenic CtBP1 missense mutation causes altered cofactor
            binding and transcriptional activity
  JOURNAL   Neurogenetics 20 (3), 129-143 (2019)
   PUBMED   31041561
REFERENCE   3  (residues 1 to 327)
  AUTHORS   Conway E, Jerman E, Healy E, Ito S, Holoch D, Oliviero G, Deevy O,
            Glancy E, Fitzpatrick DJ, Mucha M, Watson A, Rice AM, Chammas P,
            Huang C, Pratt-Kelly I, Koseki Y, Nakayama M, Ishikura T, Streubel
            G, Wynne K, Hokamp K, McLysaght A, Ciferri C, Di Croce L, Cagney G,
            Margueron R, Koseki H and Bracken AP.
  TITLE     A Family of Vertebrate-Specific Polycombs Encoded by the LCOR/LCORL
            Genes Balance PRC2 Subtype Activities
  JOURNAL   Mol Cell 70 (3), 408-421 (2018)
   PUBMED   29628311
REFERENCE   4  (residues 1 to 327)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 327)
  AUTHORS   He M, Xu M, Zhang B, Liang J, Chen P, Lee JY, Johnson TA, Li H,
            Yang X, Dai J, Liang L, Gui L, Qi Q, Huang J, Li Y, Adair LS, Aung
            T, Cai Q, Cheng CY, Cho MC, Cho YS, Chu M, Cui B, Gao YT, Go MJ, Gu
            D, Gu W, Guo H, Hao Y, Hong J, Hu Z, Hu Y, Huang J, Hwang JY, Ikram
            MK, Jin G, Kang DH, Khor CC, Kim BJ, Kim HT, Kubo M, Lee J, Lee J,
            Lee NR, Li R, Li J, Liu J, Longe J, Lu W, Lu X, Miao X, Okada Y,
            Ong RT, Qiu G, Seielstad M, Sim X, Song H, Takeuchi F, Tanaka T,
            Taylor PR, Wang L, Wang W, Wang Y, Wu C, Wu Y, Xiang YB, Yamamoto
            K, Yang H, Liao M, Yokota M, Young T, Zhang X, Kato N, Wang QK,
            Zheng W, Hu FB, Lin D, Shen H, Teo YY, Mo Z, Wong TY, Lin X, Mohlke
            KL, Ning G, Tsunoda T, Han BG, Shu XO, Tai ES, Wu T and Qi L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   6  (residues 1 to 327)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (residues 1 to 327)
  AUTHORS   Sovio U, Bennett AJ, Millwood IY, Molitor J, O'Reilly PF, Timpson
            NJ, Kaakinen M, Laitinen J, Haukka J, Pillas D, Tzoulaki I, Molitor
            J, Hoggart C, Coin LJ, Whittaker J, Pouta A, Hartikainen AL,
            Freimer NB, Widen E, Peltonen L, Elliott P, McCarthy MI and
            Jarvelin MR.
  TITLE     Genetic determinants of height growth assessed longitudinally from
            infancy to adulthood in the northern Finland birth cohort 1966
  JOURNAL   PLoS Genet 5 (3), e1000409 (2009)
   PUBMED   19266077
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 327)
  AUTHORS   Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M,
            Freathy RM, Perry JR, Stevens S, Hall AS, Samani NJ, Shields B,
            Prokopenko I, Farrall M, Dominiczak A, Johnson T, Bergmann S,
            Beckmann JS, Vollenweider P, Waterworth DM, Mooser V, Palmer CN,
            Morris AD, Ouwehand WH, Zhao JH, Li S, Loos RJ, Barroso I, Deloukas
            P, Sandhu MS, Wheeler E, Soranzo N, Inouye M, Wareham NJ, Caulfield
            M, Munroe PB, Hattersley AT, McCarthy MI and Frayling TM.
  CONSRTM   Diabetes Genetics Initiative; Wellcome Trust Case Control
            Consortium; Cambridge GEM Consortium
  TITLE     Genome-wide association analysis identifies 20 loci that influence
            adult height
  JOURNAL   Nat Genet 40 (5), 575-583 (2008)
   PUBMED   18391952
REFERENCE   9  (residues 1 to 327)
  AUTHORS   Gudbjartsson DF, Walters GB, Thorleifsson G, Stefansson H,
            Halldorsson BV, Zusmanovich P, Sulem P, Thorlacius S, Gylfason A,
            Steinberg S, Helgadottir A, Ingason A, Steinthorsdottir V,
            Olafsdottir EJ, Olafsdottir GH, Jonsson T, Borch-Johnsen K, Hansen
            T, Andersen G, Jorgensen T, Pedersen O, Aben KK, Witjes JA,
            Swinkels DW, den Heijer M, Franke B, Verbeek AL, Becker DM, Yanek
            LR, Becker LC, Tryggvadottir L, Rafnar T, Gulcher J, Kiemeney LA,
            Kong A, Thorsteinsdottir U and Stefansson K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
REFERENCE   10 (residues 1 to 327)
  AUTHORS   Kunieda T, Park JM, Takeuchi H and Kubo T.
  TITLE     Identification and characterization of Mlr1,2: two mouse homologues
            of Mblk-1, a transcription factor from the honeybee brain(1)
  JOURNAL   FEBS Lett 535 (1-3), 61-65 (2003)
   PUBMED   12560079
  REMARK    GeneRIF: Identification and characterization of an homologous gene
            in mouse.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079399.5 and AC005768.17.
            
            Summary: This gene encodes a transcription factor that appears to
            function in spermatogenesis. Polymorphisms in this gene are
            associated with measures of skeletal frame size and adult height.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Oct 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.170565.1,
                                           SRR1660803.238556.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p15.31"
     Protein         1..327
                     /product="ligand-dependent nuclear receptor
                     corepressor-like protein isoform 4"
                     /note="transcription factor MLR1; LCOR-like protein;
                     MBLK1-related protein"
                     /calculated_mol_wt=36346
     Region          104..124
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N3X6.4)"
     CDS             1..327
                     /gene="LCORL"
                     /gene_synonym="MLR1"
                     /coded_by="NM_001365660.1:125..1108"
                     /note="isoform 4 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS93484.1"
                     /db_xref="GeneID:254251"
                     /db_xref="HGNC:HGNC:30776"
                     /db_xref="MIM:611799"
ORIGIN      
        1 mdkgrermaa aaaaaaaaaa aaqcrsprca aerrgfrrel dswrhrlmhc vgfesilegl
       61 ygprlrrdls lfedcepeel tdwsmdekcs fcnlqreavs dcipsldssq stpteelssq
      121 gqsntdkiec qaenylnalf rkkdlpqncd pniplvaqel mkkmirqfai eyisksgktq
      181 enrngsigps ivcksiqmnq aenslqeeqe gpldltvnrm qeqntqqgdg vldlstkkts
      241 ikseessicd pssensvagl qtcflylsml qvktdeklnv sdentascpl spikmclnrp
      301 iewnlnltta sltsctvhnq nlkseek
//
LOCUS       NP_001305178             152 aa            linear   PRI 18-DEC-2022
DEFINITION  nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform 2
            [Homo sapiens].
ACCESSION   NP_001305178
VERSION     NP_001305178.1
DBSOURCE    REFSEQ: accession NM_001318249.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 152)
  AUTHORS   Yue Z, Shusheng J, Hongtao S, Shu Z, Lan H, Qingyuan Z, Shaoqiang C
            and Yuanxi H.
  TITLE     Silencing DSCAM-AS1 suppresses the growth and invasion of
            ER-positive breast cancer cells by downregulating both DCTPP1 and
            QPRT
  JOURNAL   Aging (Albany NY) 12 (14), 14754-14774 (2020)
   PUBMED   32716908
  REMARK    GeneRIF: Silencing DSCAM-AS1 suppresses the growth and invasion of
            ER-positive breast cancer cells by downregulating both DCTPP1 and
            QPRT.
            Erratum:[Aging (Albany NY). 2022 Jan 15;14(1):528-529. PMID:
            35050859]
REFERENCE   2  (residues 1 to 152)
  AUTHORS   Jane EP, Premkumar DR, Thambireddy S, Golbourn B, Agnihotri S,
            Bertrand KC, Mack SC, Myers MI, Chattopadhyay A, Taylor DL,
            Schurdak ME, Stern AM and Pollack IF.
  TITLE     Targeting NAD+ Biosynthesis Overcomes Panobinostat and
            Bortezomib-Induced Malignant Glioma Resistance
  JOURNAL   Mol Cancer Res 18 (7), 1004-1017 (2020)
   PUBMED   32238439
  REMARK    GeneRIF: Targeting NAD(+) Biosynthesis Overcomes Panobinostat and
            Bortezomib-Induced Malignant Glioma Resistance.
REFERENCE   3  (residues 1 to 152)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 152)
  AUTHORS   Haslinger D, Waltes R, Yousaf A, Lindlar S, Schneider I, Lim CK,
            Tsai MM, Garvalov BK, Acker-Palmer A, Krezdorn N, Rotter B, Acker
            T, Guillemin GJ, Fulda S, Freitag CM and Chiocchetti AG.
  TITLE     Loss of the Chr16p11.2 ASD candidate gene QPRT leads to aberrant
            neuronal differentiation in the SH-SY5Y neuronal cell model
  JOURNAL   Mol Autism 9, 56 (2018)
   PUBMED   30443311
  REMARK    GeneRIF: Our data suggest that QPRT may play an important role in
            the pathogenesis of autism spectrum disorders in Chr16p11.2
            deletion carriers.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 152)
  AUTHORS   Wang Z, Gao Y, Zhang C, Hu H, Guo D, Xu Y, Xu Q, Zhang W, Deng S,
            Lv P, Yang Y, Ding Y, Li Q, Weng C, Chen X, Gong S, Chen H, Niu J
            and Tang H.
  TITLE     Quinolinate Phosphoribosyltransferase is an Antiviral Host Factor
            Against Hepatitis C Virus Infection
  JOURNAL   Sci Rep 7 (1), 5876 (2017)
   PUBMED   28724915
  REMARK    GeneRIF: Hepatic QPRT thus likely served as a cellular factor that
            dampened productive hepatitis c virus replication.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 152)
  AUTHORS   Liu H, Woznica K, Catton G, Crawford A, Botting N and Naismith JH.
  TITLE     Structural and kinetic characterization of quinolinate
            phosphoribosyltransferase (hQPRTase) from homo sapiens
  JOURNAL   J Mol Biol 373 (3), 755-763 (2007)
   PUBMED   17868694
REFERENCE   7  (residues 1 to 152)
  AUTHORS   Magni G, Amici A, Emanuelli M, Orsomando G, Raffaelli N and
            Ruggieri S.
  TITLE     Enzymology of NAD+ homeostasis in man
  JOURNAL   Cell Mol Life Sci 61 (1), 19-34 (2004)
   PUBMED   14704851
  REMARK    Review article
REFERENCE   8  (residues 1 to 152)
  AUTHORS   Fukuoka S and Shibata K.
  TITLE     Characterization and functional expression of the cDNA encoding
            human brain quinolinate phosphoribosyltransferase
  JOURNAL   Adv Exp Med Biol 467, 611-614 (1999)
   PUBMED   10721107
REFERENCE   9  (residues 1 to 152)
  AUTHORS   Fukuoka SI, Nyaruhucha CM and Shibata K.
  TITLE     Characterization and functional expression of the cDNA encoding
            human brain quinolinate phosphoribosyltransferase
  JOURNAL   Biochim Biophys Acta 1395 (2), 192-201 (1998)
   PUBMED   9473669
REFERENCE   10 (residues 1 to 152)
  AUTHORS   Feldblum S, Rougier A, Loiseau H, Loiseau P, Cohadon F, Morselli PL
            and Lloyd KG.
  TITLE     Quinolinic-phosphoribosyl transferase activity is decreased in
            epileptic human brain tissue
  JOURNAL   Epilepsia 29 (5), 523-529 (1988)
   PUBMED   3409840
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK293195.1, BC005060.1,
            BX508036.1, AL563955.3 and BG576832.1.
            
            Summary: This gene encodes a key enzyme in catabolism of
            quinolinate, an intermediate in the tryptophan-nicotinamide adenine
            dinucleotide pathway. Quinolinate acts as a most potent endogenous
            exitotoxin to neurons. Elevation of quinolinate levels in the brain
            has been linked to the pathogenesis of neurodegenerative disorders
            such as epilepsy, Alzheimer's disease, and Huntington's disease.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and 5'
            coding region, lacks an exon in the CDS and initiates translation
            at an alternate start codon, compared to variant 1. It encodes
            isoform 2, which is shorter and has a distinct N-terminus, compared
            to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK293195.1, SRR1163657.307808.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..152
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     Protein         1..152
                     /product="nicotinate-nucleotide pyrophosphorylase
                     [carboxylating] isoform 2"
                     /EC_number="2.4.2.19"
                     /note="nicotinate-nucleotide pyrophosphorylase
                     (carboxylating); epididymis secretory sperm binding
                     protein Li 90n"
                     /calculated_mol_wt=15771
     Region          <38..140
                     /region_name="nadC"
                     /note="nicotinate-nucleotide pyrophosphorylase; TIGR00078"
                     /db_xref="CDD:272894"
     CDS             1..152
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /coded_by="NM_001318249.1:90..548"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:23475"
                     /db_xref="HGNC:HGNC:9755"
                     /db_xref="MIM:606248"
ORIGIN      
        1 mgppslhspt pslgplgalv lssqhtspds ckspwtlkav raarqaadfa lkvevecssl
       61 qeavqaaeag adlvlldnfk peelhptatv lkaqfpsvav easggitldn lpqfcgphid
      121 vismgmltqa apaldfslkl fakevapvpk ih
//
LOCUS       NP_653262                154 aa            linear   PRI 18-DEC-2022
DEFINITION  uncharacterized protein C10orf82 isoform 1 [Homo sapiens].
ACCESSION   NP_653262
VERSION     NP_653262.1
DBSOURCE    REFSEQ: accession NM_144661.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 154)
  AUTHORS   Lamesch P, Li N, Milstein S, Fan C, Hao T, Szabo G, Hu Z,
            Venkatesan K, Bethel G, Martin P, Rogers J, Lawlor S, McLaren S,
            Dricot A, Borick H, Cusick ME, Vandenhaute J, Dunham I, Hill DE and
            Vidal M.
  TITLE     hORFeome v3.1: a resource of human open reading frames representing
            over 10,000 human genes
  JOURNAL   Genomics 89 (3), 307-315 (2007)
   PUBMED   17207965
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC021737.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC021737.2, SRR5189667.10740.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..154
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.3"
     Protein         1..154
                     /product="uncharacterized protein C10orf82 isoform 1"
                     /note="uncharacterized protein C10orf82"
                     /calculated_mol_wt=17666
     CDS             1..154
                     /gene="C10orf82"
                     /coded_by="NM_144661.4:52..516"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7596.1"
                     /db_xref="GeneID:143379"
                     /db_xref="HGNC:HGNC:28500"
ORIGIN      
        1 mepsktfmrn lpitpgysgf vpflscqgms keddmnhcvk tfqektqryk eqlrelccav
       61 atapklkpvn seetvlqalh qynlqyhpli leckyvkkpl qeppipgwag ylprakvtef
      121 gcgtrytvma kncykdflei terakkahlk pyee
//
LOCUS       NP_002019                437 aa            linear   PRI 24-DEC-2022
DEFINITION  protein farnesyltransferase subunit beta [Homo sapiens].
ACCESSION   NP_002019
VERSION     NP_002019.1
DBSOURCE    REFSEQ: accession NM_002028.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 437)
  AUTHORS   Verhasselt H, Stelmach P, Domin M, Jung D, Hagemann A, Manthey I
            and Bachmann HS.
  TITLE     Characterization of the promoter of the human farnesyltransferase
            beta subunit and the impact of the transcription factor OCT-1 on
            its expression
  JOURNAL   Genomics 114 (2), 110314 (2022)
   PUBMED   35167937
  REMARK    GeneRIF: Characterization of the promoter of the human
            farnesyltransferase beta subunit and the impact of the
            transcription factor OCT-1 on its expression.
REFERENCE   2  (residues 1 to 437)
  AUTHORS   Jeong A, Cheng S, Zhong R, Bennett DA, Bergo MO and Li L.
  TITLE     Protein farnesylation is upregulated in Alzheimer's human brains
            and neuron-specific suppression of farnesyltransferase mitigates
            pathogenic processes in Alzheimer's model mice
  JOURNAL   Acta Neuropathol Commun 9 (1), 129 (2021)
   PUBMED   34315531
  REMARK    GeneRIF: Protein farnesylation is upregulated in Alzheimer's human
            brains and neuron-specific suppression of farnesyltransferase
            mitigates pathogenic processes in Alzheimer's model mice.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 437)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 437)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 437)
  AUTHORS   Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB,
            Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G,
            Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J,
            Graslund S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ
            and Greenblatt J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
REFERENCE   6  (residues 1 to 437)
  AUTHORS   Wang T, Danielson PD, Li BY, Shah PC, Kim SD and Donahoe PK.
  TITLE     The p21(RAS) farnesyltransferase alpha subunit in TGF-beta and
            activin signaling
  JOURNAL   Science 271 (5252), 1120-1122 (1996)
   PUBMED   8599089
REFERENCE   7  (residues 1 to 437)
  AUTHORS   Sinensky M, Fantle K, Trujillo M, McLain T, Kupfer A and Dalton M.
  TITLE     The processing pathway of prelamin A
  JOURNAL   J Cell Sci 107 (Pt 1), 61-67 (1994)
   PUBMED   8175923
REFERENCE   8  (residues 1 to 437)
  AUTHORS   Andres DA, Milatovich A, Ozcelik T, Wenzlau JM, Brown MS, Goldstein
            JL and Francke U.
  TITLE     cDNA cloning of the two subunits of human CAAX farnesyltransferase
            and chromosomal mapping of FNTA and FNTB loci and related sequences
  JOURNAL   Genomics 18 (1), 105-112 (1993)
   PUBMED   8276393
REFERENCE   9  (residues 1 to 437)
  AUTHORS   Omer CA, Kral AM, Diehl RE, Prendergast GC, Powers S, Allen CM,
            Gibbs JB and Kohl NE.
  TITLE     Characterization of recombinant human farnesyl-protein transferase:
            cloning, expression, farnesyl diphosphate binding, and functional
            homology with yeast prenyl-protein transferases
  JOURNAL   Biochemistry 32 (19), 5167-5176 (1993)
   PUBMED   8494894
REFERENCE   10 (residues 1 to 437)
  AUTHORS   Manne V, Roberts D, Tobin A, O'Rourke E, De Virgilio M, Meyers C,
            Ahmed N, Kurz B, Resh M, Kung HF et al.
  TITLE     Identification and preliminary characterization of protein-cysteine
            farnesyltransferase
  JOURNAL   Proc Natl Acad Sci U S A 87 (19), 7541-7545 (1990)
   PUBMED   2217184
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AU122768.1, BC013574.1 and BC020232.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.258946.1,
                                           SRR1660803.31334.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000246166.3/ ENSP00000246166.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..437
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.3"
     Protein         1..437
                     /product="protein farnesyltransferase subunit beta"
                     /EC_number="2.5.1.58"
                     /note="FTase-beta; CAAX farnesyltransferase subunit beta;
                     ras proteins prenyltransferase subunit beta; epididymis
                     secretory sperm binding protein"
                     /calculated_mol_wt=48643
     Region          75..373
                     /region_name="FTase"
                     /note="Protein farnesyltransferase (FTase)_like proteins
                     containing the protein prenyltransferase (PTase) domain,
                     beta subunit (alpha 6 - alpha 6 barrel fold). FTases are a
                     subgroup of PTase family of lipid-modifying enzymes.
                     PTases catalyze the...; cd02893"
                     /db_xref="CDD:239223"
     Site            order(95,98..99,102,106,149,151..152,154..155,202,
                     205..206,248,250,254,297,299..300,303,352,361..362)
                     /site_type="active"
                     /note="active site cavity [active]"
                     /db_xref="CDD:239223"
     Site            order(98..99,102,151..152,202,297,352)
                     /site_type="active"
                     /note="peptide binding pocket [active]"
                     /db_xref="CDD:239223"
     Site            order(102,105,202,205,248,250,254,291,294,300,303,361)
                     /site_type="lipid-binding"
                     /note="lipid binding pocket [chemical binding]"
                     /db_xref="CDD:239223"
     Site            102
                     /site_type="other"
                     /note="Important for selectivity against geranylgeranyl
                     diphosphate. /evidence=ECO:0000269|PubMed:16893176;
                     propagated from UniProtKB/Swiss-Prot (P49356.1)"
     Region          123..164
                     /region_name="PFTB 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49356.1)"
     Region          174..215
                     /region_name="PFTB 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49356.1)"
     Site            order(197,235,245..246,251,275,278,280..281,291..293)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:239223"
     Region          222..263
                     /region_name="PFTB 3"
                     /note="propagated from UniProtKB/Swiss-Prot (P49356.1)"
     Region          270..312
                     /region_name="PFTB 4"
                     /note="propagated from UniProtKB/Swiss-Prot (P49356.1)"
     Site            order(297,299,362)
                     /site_type="other"
                     /note="Zn2+ binding site [ion binding]"
                     /db_xref="CDD:239223"
     Region          332..374
                     /region_name="PFTB 5"
                     /note="propagated from UniProtKB/Swiss-Prot (P49356.1)"
     Site            436
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8K2I1; propagated from
                     UniProtKB/Swiss-Prot (P49356.1)"
     CDS             1..437
                     /gene="FNTB"
                     /gene_synonym="FPTB"
                     /coded_by="NM_002028.4:60..1373"
                     /db_xref="CCDS:CCDS9769.1"
                     /db_xref="GeneID:2342"
                     /db_xref="HGNC:HGNC:3785"
                     /db_xref="MIM:134636"
ORIGIN      
        1 maspssftyy cppssspvws eplyslrpeh arerlqddsv etvtsieqak veekiqevfs
       61 sykfnhlvpr lvlqrekhfh ylkrglrqlt dayecldasr pwlcywilhs lelldepipq
      121 ivatdvcqfl elcqspeggf gggpgqyphl aptyaavnal ciigteeayd iinrekllqy
      181 lyslkqpdgs flmhvggevd vrsaycaasv asltniitpd lfegtaewia rcqnweggig
      241 gvpgmeahgg ytfcglaalv ilkrerslnl ksllqwvtsr qmrfeggfqg rcnklvdgcy
      301 sfwqagllpl lhralhaqgd palsmshwmf hqqalqeyil mccqcpaggl ldkpgksrdf
      361 yhtcyclsgl siaqhfgsga mlhdvvlgvp enalqpthpv ynigpdkviq attyflqkpv
      421 pgfeelkdet saepatd
//
LOCUS       NP_001186104             325 aa            linear   PRI 25-DEC-2022
DEFINITION  target of rapamycin complex subunit LST8 isoform b [Homo sapiens].
ACCESSION   NP_001186104
VERSION     NP_001186104.1
DBSOURCE    REFSEQ: accession NM_001199175.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 325)
  AUTHORS   Zhang L and Su X.
  TITLE     Bioactive peptide inhibits acute myeloid leukemia cell
            proliferation by downregulating ALKBH5-mediated m6A demethylation
            of EIF4EBP1 and MLST8 mRNA
  JOURNAL   Cell Oncol (Dordr) 45 (3), 355-365 (2022)
   PUBMED   35579750
  REMARK    GeneRIF: Bioactive peptide inhibits acute myeloid leukemia cell
            proliferation by downregulating ALKBH5-mediated m(6)A demethylation
            of EIF4EBP1 and MLST8 mRNA.
REFERENCE   2  (residues 1 to 325)
  AUTHORS   Meng D, Yang Q, Jeong MH, Curukovic A, Tiwary S, Melick CH,
            Lama-Sherpa TD, Wang H, Huerta-Rosario M, Urquhart G, Zacharias LG,
            Lewis C, DeBerardinis RJ and Jewell JL.
  TITLE     SNAT7 regulates mTORC1 via macropinocytosis
  JOURNAL   Proc Natl Acad Sci U S A 119 (20), e2123261119 (2022)
   PUBMED   35561222
REFERENCE   3  (residues 1 to 325)
  AUTHORS   Zhang E, Chen S, Tang H, Fei C, Yuan Z, Mu X, Qin Y, Liu H, Fan Y,
            Tan M and Wang X.
  TITLE     CDK1/FBXW7 facilitates degradation and ubiquitination of MLST8 to
            inhibit progression of renal cell carcinoma
  JOURNAL   Cancer Sci 113 (1), 91-108 (2022)
   PUBMED   34741373
  REMARK    GeneRIF: CDK1/FBXW7 facilitates degradation and ubiquitination of
            MLST8 to inhibit progression of renal cell carcinoma.
REFERENCE   4  (residues 1 to 325)
  AUTHORS   Lee H, Chin H, Kim H, Jung H and Lee D.
  TITLE     STAT3-mediated MLST8 gene expression regulates cap-dependent
            translation in cancer cells
  JOURNAL   Mol Oncol 14 (8), 1850-1867 (2020)
   PUBMED   32495998
  REMARK    GeneRIF: STAT3-mediated MLST8 gene expression regulates
            cap-dependent translation in cancer cells.
REFERENCE   5  (residues 1 to 325)
  AUTHORS   Yu XN, Shen XZ, Guo HY and Zhu JM.
  TITLE     ASO Author Reflections: mLST8 is a Prognostic Biomarker and
            Involved in Tumor Progression in Hepatocellular Carcinoma
  JOURNAL   Ann Surg Oncol 27 (5), 1558-1559 (2020)
   PUBMED   32166592
  REMARK    GeneRIF: ASO Author Reflections: mLST8 is a Prognostic Biomarker
            and Involved in Tumor Progression in Hepatocellular Carcinoma.
REFERENCE   6  (residues 1 to 325)
  AUTHORS   Jacinto E, Loewith R, Schmidt A, Lin S, Ruegg MA, Hall A and Hall
            MN.
  TITLE     Mammalian TOR complex 2 controls the actin cytoskeleton and is
            rapamycin insensitive
  JOURNAL   Nat Cell Biol 6 (11), 1122-1128 (2004)
   PUBMED   15467718
REFERENCE   7  (residues 1 to 325)
  AUTHORS   Sarbassov DD, Ali SM, Kim DH, Guertin DA, Latek RR,
            Erdjument-Bromage H, Tempst P and Sabatini DM.
  TITLE     Rictor, a novel binding partner of mTOR, defines a
            rapamycin-insensitive and raptor-independent pathway that regulates
            the cytoskeleton
  JOURNAL   Curr Biol 14 (14), 1296-1302 (2004)
   PUBMED   15268862
REFERENCE   8  (residues 1 to 325)
  AUTHORS   Kim DH, Sarbassov DD, Ali SM, Latek RR, Guntur KV,
            Erdjument-Bromage H, Tempst P and Sabatini DM.
  TITLE     GbetaL, a positive regulator of the rapamycin-sensitive pathway
            required for the nutrient-sensitive interaction between raptor and
            mTOR
  JOURNAL   Mol Cell 11 (4), 895-904 (2003)
   PUBMED   12718876
REFERENCE   9  (residues 1 to 325)
  AUTHORS   Loewith R, Jacinto E, Wullschleger S, Lorberg A, Crespo JL,
            Bonenfant D, Oppliger W, Jenoe P and Hall MN.
  TITLE     Two TOR complexes, only one of which is rapamycin sensitive, have
            distinct roles in cell growth control
  JOURNAL   Mol Cell 10 (3), 457-468 (2002)
   PUBMED   12408816
REFERENCE   10 (residues 1 to 325)
  AUTHORS   Rodgers BD, Levine MA, Bernier M and Montrose-Rafizadeh C.
  TITLE     Insulin regulation of a novel WD-40 repeat protein in adipocytes
  JOURNAL   J Endocrinol 168 (2), 325-332 (2001)
   PUBMED   11182770
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK021536.1, BC088354.1, AK098762.1 and AC009065.8.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK021536.1, SRR5189661.83533.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..325
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..325
                     /product="target of rapamycin complex subunit LST8 isoform
                     b"
                     /note="target of rapamycin complex subunit LST8; gable;
                     protein GbetaL; TORC subunit LST8; mammalian lethal with
                     SEC13 protein 8"
                     /calculated_mol_wt=35617
     Region          1..37
                     /region_name="WD 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00221,
                     ECO:0000269|PubMed:23636326"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BVC4.1)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BVC4.1)"
     Site            7
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q9BVC4.1)"
     Region          14..296
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(17,21,27..28,40,58,62,67..68,82..83,100,105,
                     111..112,126,143,148,154..155,167..168,186,190,196..197,
                     217..218,235,240,246..247,267..268,286,290,296)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          46..82
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          82..121
                     /region_name="WD 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00221,
                     ECO:0000269|PubMed:23636326"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BVC4.1)"
     Region          88..126
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          125..164
                     /region_name="WD 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00221,
                     ECO:0000269|PubMed:23636326"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BVC4.1)"
     Region          130..166
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          167..206
                     /region_name="WD 5.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00221,
                     ECO:0000269|PubMed:23636326"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BVC4.1)"
     Region          173..216
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          217..256
                     /region_name="WD 6.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00221,
                     ECO:0000269|PubMed:23636326"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BVC4.1)"
     Region          223..257
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          267..308
                     /region_name="WD 7.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00221,
                     ECO:0000269|PubMed:23636326"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BVC4.1)"
     Region          272..298
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..325
                     /gene="MLST8"
                     /gene_synonym="GbetaL; GBL; LST8; POP3; WAT1"
                     /coded_by="NM_001199175.3:115..1092"
                     /note="isoform b is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS58409.1"
                     /db_xref="GeneID:64223"
                     /db_xref="HGNC:HGNC:24825"
                     /db_xref="MIM:612190"
ORIGIN      
        1 mntspgtvgs dpvilatagy dhtvrfwqah sgictrtvqh qdsvnalevt pdrsmiaaag
       61 yqhirmydln snnpnpiisy dgvnkniasv gfhedgrwmy tggedctari wdlrsrnlqc
      121 qrifqvnapi ncvclhpnqa elivgdqsga ihiwdlktdh neqlipepev sitsahidpd
      181 asymaavnst gncyvwnltg gigdevtqli pktkipahtr yalqcrfspd stllatcsad
      241 qtckiwrtsn fslmtelsik sgnpgessrg wmwgcafsgd sqyivtassd nlarlwcvet
      301 geikreyggh qkavvclafn dsvlg
//
LOCUS       NP_005789                407 aa            linear   PRI 26-DEC-2022
DEFINITION  E3 ubiquitin-protein ligase TRIM13 isoform 1 [Homo sapiens].
ACCESSION   NP_005789
VERSION     NP_005789.2
DBSOURCE    REFSEQ: accession NM_005798.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 407)
  AUTHORS   Roshanazadeh MR, Adelipour M, Sanaei A, Chenane H and Rashidi M.
  TITLE     TRIM3 and TRIM16 as potential tumor suppressors in breast cancer
            patients
  JOURNAL   BMC Res Notes 15 (1), 312 (2022)
   PUBMED   36180926
  REMARK    GeneRIF: TRIM3 and TRIM16 as potential tumor suppressors in breast
            cancer patients.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 407)
  AUTHORS   Li Y, Ren D, Shen Y, Zheng X and Xu G.
  TITLE     Altered DNA methylation of TRIM13 in diabetic nephropathy
            suppresses mesangial collagen synthesis by promoting ubiquitination
            of CHOP
  JOURNAL   EBioMedicine 51, 102582 (2020)
   PUBMED   31901873
  REMARK    GeneRIF: Altered DNA methylation of TRIM13 in diabetic nephropathy
            suppresses mesangial collagen synthesis by promoting ubiquitination
            of CHOP.
REFERENCE   3  (residues 1 to 407)
  AUTHORS   Xu L, Wu Q, Zhou X, Wu Q and Fang M.
  TITLE     TRIM13 inhibited cell proliferation and induced cell apoptosis by
            regulating NF-kappaB pathway in non-small-cell lung carcinoma cells
  JOURNAL   Gene 715, 144015 (2019)
   PUBMED   31357025
  REMARK    GeneRIF: results indicate that TRIM13 behaves as a tumor suppressor
            in non-small-cell lung carcinoma through regulating NF-kappaB
            pathway.
REFERENCE   4  (residues 1 to 407)
  AUTHORS   Chen WX, Cheng L, Xu LY, Qian Q and Zhu YL.
  TITLE     Bioinformatics analysis of prognostic value of TRIM13 gene in
            breast cancer
  JOURNAL   Biosci Rep 39 (3) (2019)
   PUBMED   30837324
  REMARK    GeneRIF: Results from bioinformatics analysis suggest that
            Tripartite motif 13 (TRIM13) may be adopted as a promising
            predictive biomarker for prognosis of breast cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 407)
  AUTHORS   Huang B, Pei HZ, Chang HW and Baek SH.
  TITLE     The E3 ubiquitin ligase Trim13 regulates Nur77 stability via casein
            kinase 2alpha
  JOURNAL   Sci Rep 8 (1), 13895 (2018)
   PUBMED   30224829
  REMARK    GeneRIF: The Trim13-mediated ubiquitination of Nur77 was optimal in
            the presence of the E2 enzyme UbcH5. Importantly, in addition to
            Trim13-mediated ubiquitination, the stability of Nur77 was also
            regulated by casein kinase 2alpha
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 407)
  AUTHORS   van Everdink WJ, Baranova A, Lummen C, Tyazhelova T, Looman MW,
            Ivanov D, Verlind E, Pestova A, Faber H, van der Veen AY, Yankovsky
            N, Vellenga E and Buys CH.
  TITLE     RFP2, c13ORF1, and FAM10A4 are the most likely tumor suppressor
            gene candidates for B-cell chronic lymphocytic leukemia
  JOURNAL   Cancer Genet Cytogenet 146 (1), 48-57 (2003)
   PUBMED   14499696
REFERENCE   7  (residues 1 to 407)
  AUTHORS   Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L,
            Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci
            S, Pelicci PG and Ballabio A.
  TITLE     The tripartite motif family identifies cell compartments
  JOURNAL   EMBO J 20 (9), 2140-2151 (2001)
   PUBMED   11331580
REFERENCE   8  (residues 1 to 407)
  AUTHORS   Migliazza A, Bosch F, Komatsu H, Cayanis E, Martinotti S, Toniato
            E, Guccione E, Qu X, Chien M, Murty VV, Gaidano G, Inghirami G,
            Zhang P, Fischer S, Kalachikov SM, Russo J, Edelman I, Efstratiadis
            A and Dalla-Favera R.
  TITLE     Nucleotide sequence, transcription map, and mutation analysis of
            the 13q14 chromosomal region deleted in B-cell chronic lymphocytic
            leukemia
  JOURNAL   Blood 97 (7), 2098-2104 (2001)
   PUBMED   11264177
REFERENCE   9  (residues 1 to 407)
  AUTHORS   Kapanadze B, Makeeva N, Corcoran M, Jareborg N, Hammarsund M,
            Baranova A, Zabarovsky E, Vorontsova O, Merup M, Gahrton G, Jansson
            M, Yankovsky N, Einhorn S, Oscier D, Grander D and Sangfelt O.
  TITLE     Comparative sequence analysis of a region on human chromosome
            13q14, frequently deleted in B-cell chronic lymphocytic leukemia,
            and its homologous region on mouse chromosome 14
  JOURNAL   Genomics 70 (3), 327-334 (2000)
   PUBMED   11161783
REFERENCE   10 (residues 1 to 407)
  AUTHORS   Kapanadze B, Kashuba V, Baranova A, Rasool O, van Everdink W, Liu
            Y, Syomov A, Corcoran M, Poltaraus A, Brodyansky V, Syomova N,
            Kazakov A, Ibbotson R, van den Berg A, Gizatullin R, Fedorova L,
            Sulimova G, Zelenin A, Deaven L, Lehrach H, Grander D, Buys C,
            Oscier D, Zabarovsky ER, Einhorn S and Yankovsky N.
  TITLE     A cosmid and cDNA fine physical map of a human chromosome 13q14
            region frequently lost in B-cell chronic lymphocytic leukemia and
            identification of a new putative tumor suppressor gene, Leu5
  JOURNAL   FEBS Lett 426 (2), 266-270 (1998)
   PUBMED   9599022
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI668033.1, AF241850.1,
            AY455758.1, KF455768.1 and AL832695.1.
            On May 12, 2004 this sequence version replaced NP_005789.1.
            
            Summary: This gene encodes a member of the tripartite motif (TRIM)
            family. The TRIM motif includes three zinc-binding domains, a RING,
            a B-box type 1 and a B-box type 2, and a coiled-coil region. This
            gene is located on chromosome 13 within the minimal deletion region
            for B-cell chronic lymphocytic leukemia. Multiple alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the same protein (isoform 1) as variants 2
            and 3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.17042.1,
                                           SRR1803617.191943.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..407
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.2"
     Protein         1..407
                     /product="E3 ubiquitin-protein ligase TRIM13 isoform 1"
                     /EC_number="2.3.2.27"
                     /note="ret finger protein 2; tripartite motif protein 13;
                     CLL-associated RING finger; tripartite motif-containing
                     protein 13; E3 ubiquitin-protein ligase TRIM13; RING
                     finger protein 77; leukemia-associated protein 5; putative
                     tumor suppressor RFP2; B-cell chronic lymphocytic leukemia
                     tumor suppressor Leu5; RING-type E3 ubiquitin transferase
                     TRIM13"
                     /calculated_mol_wt=46857
     Region          5..61
                     /region_name="RING-HC_TRIM13_C-V"
                     /note="RING finger, HC subclass, found in tripartite
                     motif-containing protein 13 (TRIM13) and similar proteins;
                     cd16762"
                     /db_xref="CDD:438418"
     Region          92..133
                     /region_name="Bbox2_TRIM13_C-XI"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein 13 (TRIM13) and similar proteins;
                     cd19767"
                     /db_xref="CDD:380825"
     Site            317..337
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60858.2)"
     CDS             1..407
                     /gene="TRIM13"
                     /gene_synonym="CAR; DLEU5; LEU5; RFP2; RNF77"
                     /coded_by="NM_005798.5:194..1417"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9423.1"
                     /db_xref="GeneID:10206"
                     /db_xref="HGNC:HGNC:9976"
                     /db_xref="MIM:605661"
ORIGIN      
        1 melleedltc piccslfddp rvlpcshnfc kkclegileg svrnslwrpa pfkcptcrke
       61 tsatginslq vnyslkgive kynkikispk mpvckghlgq plnifcltdm qlicgicatr
      121 gehtkhvfcs iedayaqerd afeslfqsfe twrrgdalsr ldtletskrk slqlltkdsd
      181 kvkeffeklq htldqkknei lsdfetmkla vmqaydpein klntilqeqr mafniaeafk
      241 dvsepivflq qmqefrekik viketplpps nlpasplmkn fdtsqwedik lvdvdklslp
      301 qdtgtfiski pwsfyklfll illlglvivf gptmflewsl fddlatwkgc lsnfssyltk
      361 tadfieqsvf yweqvtdgff ifnerfknft lvvlnnvaef vckykll
//
LOCUS       NP_001247439             253 aa            linear   PRI 26-DEC-2022
DEFINITION  G protein-activated inward rectifier potassium channel 1 isoform 4
            [Homo sapiens].
ACCESSION   NP_001247439
VERSION     NP_001247439.1
DBSOURCE    REFSEQ: accession NM_001260510.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 253)
  AUTHORS   Black KA, He S, Jin R, Miller DM, Bolla JR, Clarke OB, Johnson P,
            Windley M, Burns CJ, Hill AP, Laver D, Robinson CV, Smith BJ and
            Gulbis JM.
  TITLE     A constricted opening in Kir channels does not impede potassium
            conduction
  JOURNAL   Nat Commun 11 (1), 3024 (2020)
   PUBMED   32541684
  REMARK    GeneRIF: A constricted opening in Kir channels does not impede
            potassium conduction.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 253)
  AUTHORS   Schratter G, Scheruebel S, Langthaler S, Ester K, Pelzmann B,
            Ghaffari-Tabrizi-Wizsy N, Rezania S, Gorischek A, Platzer D,
            Zorn-Pauly K, Ahammer H, Prokesch A, Stanzer S, Devaney TTJ,
            Schmidt K, Jahn SW, Prassl R, Bauernhofer T and Schreibmayer W.
  TITLE     GIRK1 triggers multiple cancer-related pathways in the benign
            mammary epithelial cell line MCF10A
  JOURNAL   Sci Rep 9 (1), 19277 (2019)
   PUBMED   31848385
  REMARK    GeneRIF: GIRK1 triggers multiple cancer-related pathways in the
            benign mammary epithelial cell line MCF10A.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 253)
  AUTHORS   Yamada N, Asano Y, Fujita M, Yamazaki S, Inanobe A, Matsuura N,
            Kobayashi H, Ohno S, Ebana Y, Tsukamoto O, Ishino S, Takuwa A,
            Kioka H, Yamashita T, Hashimoto N, Zankov DP, Shimizu A, Asakura M,
            Asanuma H, Kato H, Nishida Y, Miyashita Y, Shinomiya H, Naiki N,
            Hayashi K, Makiyama T, Ogita H, Miura K, Ueshima H, Komuro I,
            Yamagishi M, Horie M, Kawakami K, Furukawa T, Koizumi A, Kurachi Y,
            Sakata Y, Minamino T, Kitakaze M and Takashima S.
  TITLE     Mutant KCNJ3 and KCNJ5 Potassium Channels as Novel Molecular
            Targets in Bradyarrhythmias and Atrial Fibrillation
  JOURNAL   Circulation 139 (18), 2157-2169 (2019)
   PUBMED   30764634
  REMARK    GeneRIF: Mutant KCNJ3 and KCNJ5 Potassium Channels as Novel
            Molecular Targets in Bradyarrhythmias and Atrial Fibrillation.
REFERENCE   4  (residues 1 to 253)
  AUTHORS   Tateyama M and Kubo Y.
  TITLE     Gi/o-coupled muscarinic receptors co-localize with GIRK channel for
            efficient channel activation
  JOURNAL   PLoS One 13 (9), e0204447 (2018)
   PUBMED   30240440
  REMARK    GeneRIF: Gi/o-coupled muscarinic receptors co-localize with GIRK
            channel for efficient channel activation
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 253)
  AUTHORS   Kammerer S, Sokolowski A, Hackl H, Platzer D, Jahn SW, El-Heliebi
            A, Schwarzenbacher D, Stiegelbauer V, Pichler M, Rezania S, Fiegl
            H, Peintinger F, Regitnig P, Hoefler G, Schreibmayer W and
            Bauernhofer T.
  TITLE     KCNJ3 is a new independent prognostic marker for estrogen receptor
            positive breast cancer patients
  JOURNAL   Oncotarget 7 (51), 84705-84717 (2016)
   PUBMED   27835900
  REMARK    GeneRIF: these data suggest that patients with estrogen receptor
            positive breast cancer might be stratified into high risk and low
            risk groups based on the KCNJ3 levels in the tumor
REFERENCE   6  (residues 1 to 253)
  AUTHORS   Signorini S, Liao YJ, Duncan SA, Jan LY and Stoffel M.
  TITLE     Normal cerebellar development but susceptibility to seizures in
            mice lacking G protein-coupled, inwardly rectifying K+ channel
            GIRK2
  JOURNAL   Proc Natl Acad Sci U S A 94 (3), 923-927 (1997)
   PUBMED   9023358
REFERENCE   7  (residues 1 to 253)
  AUTHORS   Liao YJ, Jan YN and Jan LY.
  TITLE     Heteromultimerization of G-protein-gated inwardly rectifying K+
            channel proteins GIRK1 and GIRK2 and their altered expression in
            weaver brain
  JOURNAL   J Neurosci 16 (22), 7137-7150 (1996)
   PUBMED   8929423
REFERENCE   8  (residues 1 to 253)
  AUTHORS   Schoots O, Yue KT, MacDonald JF, Hampson DR, Nobrega JN, Dixon LM
            and Van Tol HH.
  TITLE     Cloning of a G protein-activated inwardly rectifying potassium
            channel from human cerebellum
  JOURNAL   Brain Res Mol Brain Res 39 (1-2), 23-30 (1996)
   PUBMED   8804710
REFERENCE   9  (residues 1 to 253)
  AUTHORS   Chan KW, Langan MN, Sui JL, Kozak JA, Pabon A, Ladias JA and
            Logothetis DE.
  TITLE     A recombinant inwardly rectifying potassium channel coupled to
            GTP-binding proteins
  JOURNAL   J Gen Physiol 107 (3), 381-397 (1996)
   PUBMED   8868049
REFERENCE   10 (residues 1 to 253)
  AUTHORS   Stoffel M, Espinosa R 3rd, Powell KL, Philipson LH, Le Beau MM and
            Bell GI.
  TITLE     Human G-protein-coupled inwardly rectifying potassium channel
            (GIRK1) gene (KCNJ3): localization to chromosome 2 and
            identification of a simple tandem repeat polymorphism
  JOURNAL   Genomics 21 (1), 254-256 (1994)
   PUBMED   8088798
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U50964.1 and GU074516.1.
            
            Summary: Potassium channels are present in most mammalian cells,
            where they participate in a wide range of physiologic responses.
            The protein encoded by this gene is an integral membrane protein
            and inward-rectifier type potassium channel. The encoded protein,
            which has a greater tendency to allow potassium to flow into a cell
            rather than out of a cell, is controlled by G-proteins and plays an
            important role in regulating heartbeat. It associates with three
            other G-protein-activated potassium channels to form a
            heteromultimeric pore-forming complex that also couples to
            neurotransmitter receptors in the brain and whereby channel
            activation can inhibit action potential firing by hyperpolarizing
            the plasma membrane. These multimeric G-protein-gated
            inwardly-rectifying potassium (GIRK) channels may play a role in
            the pathophysiology of epilepsy, addiction, Down's syndrome,
            ataxia, and Parkinson's disease. Alternative splicing results in
            multiple transcript variants encoding distinct proteins. [provided
            by RefSeq, May 2012].
            
            Transcript Variant: This variant (4) lacks multiple 3' terminal
            exons and contains an additional coding segment, compared to
            variant 1. These differences result in a protein (isoform 4; also
            known as GIRK1e) with a truncated and novel C-terminus, compared to
            isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: GU074516.1 [ECO:0000345]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..253
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.1"
     Protein         1..253
                     /product="G protein-activated inward rectifier potassium
                     channel 1 isoform 4"
                     /note="inward rectifier K+ channel KIR3.1; G
                     protein-activated inward rectifier potassium channel 1;
                     GIRK-1; inward rectifier K(+) channel Kir3.1; potassium
                     channel, inwardly rectifying subfamily J member 3;
                     potassium voltage-gated channel subfamily J member 3"
                     /calculated_mol_wt=28585
     Region          1..40
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P48549.1)"
     Region          47..187
                     /region_name="IRK"
                     /note="Inward rectifier potassium channel; pfam01007"
                     /db_xref="CDD:425984"
     Site            81..105
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P48549.1)"
     Site            119
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:10889209; propagated from
                     UniProtKB/Swiss-Prot (P48549.1)"
     Region          143..148
                     /region_name="Selectivity filter. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P48549.1)"
     Site            158..179
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P48549.1)"
     Site            173
                     /site_type="other"
                     /note="Role in the control of polyamine-mediated channel
                     gating and in the blocking by intracellular magnesium.
                     /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (P48549.1)"
     Region          194..>234
                     /region_name="IRK_C"
                     /note="Inward rectifier potassium channel C-terminal
                     domain; pfam17655"
                     /db_xref="CDD:435949"
     CDS             1..253
                     /gene="KCNJ3"
                     /gene_synonym="GIRK1; KGA; KIR3.1"
                     /coded_by="NM_001260510.2:82..843"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:3760"
                     /db_xref="HGNC:HGNC:6264"
                     /db_xref="MIM:601534"
ORIGIN      
        1 msalrrkfgd dyqvvttsss gsglqpqgpg qdpqqqlvpk kkrqrfvdkn grcnvqhgnl
       61 gsetsrylsd lfttlvdlkw rwnlfifilt ytvawlfmas mwwviaytrg dlnkahvgny
      121 tpcvanvynf psaflffiet eatigygyry itdkcpegii lflfqsilgs ivdafligcm
      181 fikmsqpkkr aetlmfseha vismrdgklt lmfrvgnlrn shmvsaqirc kllkvsaprp
      241 fptgrpaspk pae
//
LOCUS       NP_001273173             484 aa            linear   PRI 26-DEC-2022
DEFINITION  coiled-coil domain-containing protein 63 isoform 3 [Homo sapiens].
ACCESSION   NP_001273173
VERSION     NP_001273173.1
DBSOURCE    REFSEQ: accession NM_001286244.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 484)
  AUTHORS   Yang X, Lu X, Wang L, Chen S, Li J, Cao J, Chen J, Hao Y, Li Y,
            Zhao L, Li H, Liu D, Wang L, Lu F, Shen C, Yu L, Wu X, Zhao Q, Ji
            X, Guo D, Peng X, Huang J and Gu D.
  TITLE     Common variants at 12q24 are associated with drinking behavior in
            Han Chinese
  JOURNAL   Am J Clin Nutr 97 (3), 545-551 (2013)
   PUBMED   23364009
REFERENCE   2  (residues 1 to 484)
  AUTHORS   Baik I, Cho NH, Kim SH, Han BG and Shin C.
  TITLE     Genome-wide association studies identify genetic loci related to
            alcohol consumption in Korean men
  JOURNAL   Am J Clin Nutr 93 (4), 809-816 (2011)
   PUBMED   21270382
REFERENCE   3  (residues 1 to 484)
  AUTHORS   Takeuchi F, Isono M, Nabika T, Katsuya T, Sugiyama T, Yamaguchi S,
            Kobayashi S, Ogihara T, Yamori Y, Fujioka A and Kato N.
  TITLE     Confirmation of ALDH2 as a Major locus of drinking behavior and of
            its variants regulating multiple metabolic phenotypes in a Japanese
            population
  JOURNAL   Circ J 75 (4), 911-918 (2011)
   PUBMED   21372407
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK302207.1, DB036197.1 and BC064580.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream in-frame start codon, compared to variant 1. The encoded
            isoform (3) has a shorter N-terminus than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC064580.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..484
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     Protein         1..484
                     /product="coiled-coil domain-containing protein 63 isoform
                     3"
                     /note="coiled-coil domain-containing protein 63; outer row
                     dynein assembly 5 homolog"
                     /calculated_mol_wt=56669
     Region          <15..342
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..484
                     /gene="CCDC63"
                     /gene_synonym="ODA5"
                     /coded_by="NM_001286244.2:178..1632"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS73528.1"
                     /db_xref="GeneID:160762"
                     /db_xref="HGNC:HGNC:26669"
                     /db_xref="MIM:617969"
ORIGIN      
        1 mkssrnmnrs eknymelrll lqtkedyeal ikslkvllae ldekilqmek kianqkqifa
       61 kmqeannprk lqkqihilet rlnlvtvhfd kmlttnaklr keiedlrfek aaydnvyqql
      121 qhcllmekkt mnlaieqssq ayeqrveama rmaamkdrqk kdtsqynlei relerlyahe
      181 sklksfllvk lndrnefeeq akreealkak khvkknrges fesyevahlr llklaesgnl
      241 nqliedflak eeknfarfty vtelnndmem mhkrtqriqd eiillrsqqk lshddnhsvl
      301 rqledklrkt teeadmyesk ygevsktldl lknsveklfk kincdatkil vqlgetgkvt
      361 dinlpqyfai iekktndlll letyrrilev egaeaeippp finpfwggsa llkppepikv
      421 ippvlgadpf sdrlddveqp ldhsslrqlv ldnyilkenr skevrgdslp ekvddfrsrk
      481 kvtm
//
LOCUS       NP_001333226            1103 aa            linear   PRI 27-DEC-2022
DEFINITION  [F-actin]-monooxygenase MICAL2 isoform b [Homo sapiens].
ACCESSION   NP_001333226
VERSION     NP_001333226.1
DBSOURCE    REFSEQ: accession NM_001346297.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1103)
  AUTHORS   Wang Q, Qi C, Min P, Wang Y, Ye F, Xia T, Zhang Y and Du J.
  TITLE     MICAL2 contributes to gastric cancer cell migration via
            Cdc42-dependent activation of E-cadherin/beta-catenin signaling
            pathway
  JOURNAL   Cell Commun Signal 20 (1), 136 (2022)
   PUBMED   36064550
  REMARK    GeneRIF: MICAL2 contributes to gastric cancer cell migration via
            Cdc42-dependent activation of E-cadherin/beta-catenin signaling
            pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1103)
  AUTHORS   Qi C, Min P, Wang Q, Wang Y, Song Y, Zhang Y, Bibi M and Du J.
  TITLE     MICAL2 Contributes to Gastric Cancer Cell Proliferation by
            Promoting YAP Dephosphorylation and Nuclear Translocation
  JOURNAL   Oxid Med Cell Longev 2021, 9955717 (2021)
   PUBMED   34650666
  REMARK    GeneRIF: MICAL2 Contributes to Gastric Cancer Cell Proliferation by
            Promoting YAP Dephosphorylation and Nuclear Translocation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1103)
  AUTHORS   Galloni C, Carra D, Abella JVG, Kjaer S, Singaravelu P, Barry DJ,
            Kogata N, Guerin C, Blanchoin L and Way M.
  TITLE     MICAL2 enhances branched actin network disassembly by oxidizing
            Arp3B-containing Arp2/3 complexes
  JOURNAL   J Cell Biol 220 (8) (2021)
   PUBMED   34106209
  REMARK    GeneRIF: MICAL2 enhances branched actin network disassembly by
            oxidizing Arp3B-containing Arp2/3 complexes.
REFERENCE   4  (residues 1 to 1103)
  AUTHORS   Wang F, Chen X, Cheng H, Song L, Liu J, Caplan S, Zhu L and Wu JY.
  TITLE     MICAL2PV suppresses the formation of tunneling nanotubes and
            modulates mitochondrial trafficking
  JOURNAL   EMBO Rep 22 (7), e52006 (2021)
   PUBMED   34096155
  REMARK    GeneRIF: MICAL2PV suppresses the formation of tunneling nanotubes
            and modulates mitochondrial trafficking.
REFERENCE   5  (residues 1 to 1103)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (residues 1 to 1103)
  AUTHORS   Lundquist MR, Storaska AJ, Liu TC, Larsen SD, Evans T, Neubig RR
            and Jaffrey SR.
  TITLE     Redox modification of nuclear actin by MICAL-2 regulates SRF
            signaling
  JOURNAL   Cell 156 (3), 563-576 (2014)
   PUBMED   24440334
  REMARK    GeneRIF: These data show that SRF/MRTF-A signaling is regulated by
            MICAL-2-dependent redox regulation of nuclear actin.
REFERENCE   7  (residues 1 to 1103)
  AUTHORS   Giridharan SS, Rohn JL, Naslavsky N and Caplan S.
  TITLE     Differential regulation of actin microfilaments by human MICAL
            proteins
  JOURNAL   J Cell Sci 125 (Pt 3), 614-624 (2012)
   PUBMED   22331357
  REMARK    GeneRIF: although MICAL1 is auto-inhibited by its C-terminal
            coiled-coil region, MICAL2 remains constitutively active and
            affects stress fibers, suggesting differential but complementary
            roles for MICAL1 and MICAL2 in actin microfilament regulation
REFERENCE   8  (residues 1 to 1103)
  AUTHORS   Ashida S, Furihata M, Katagiri T, Tamura K, Anazawa Y, Yoshioka H,
            Miki T, Fujioka T, Shuin T, Nakamura Y and Nakagawa H.
  TITLE     Expression of novel molecules, MICAL2-PV (MICAL2 prostate cancer
            variants), increases with high Gleason score and prostate cancer
            progression
  JOURNAL   Clin Cancer Res 12 (9), 2767-2773 (2006)
   PUBMED   16675569
  REMARK    GeneRIF: MICAL2-PV is likely to be involved in cancer progression
            of prostate cancer and could be a candidate as a novel molecular
            marker and/or target for treatment of prostate cancers.
REFERENCE   9  (residues 1 to 1103)
  AUTHORS   Fischer J, Weide T and Barnekow A.
  TITLE     The MICAL proteins and rab1: a possible link to the cytoskeleton?
  JOURNAL   Biochem Biophys Res Commun 328 (2), 415-423 (2005)
   PUBMED   15694364
REFERENCE   10 (residues 1 to 1103)
  AUTHORS   Terman JR, Mao T, Pasterkamp RJ, Yu HH and Kolodkin AL.
  TITLE     MICALs, a family of conserved flavoprotein oxidoreductases,
            function in plexin-mediated axonal repulsion
  JOURNAL   Cell 109 (7), 887-900 (2002)
   PUBMED   12110185
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025106.8 and AC079329.15.
            
            Summary: The protein encoded by this gene is a monooxygenase that
            enhances depolymerization of F-actin and is therefore involved in
            cytoskeletal dynamics. The encoded protein is a regulator of the
            SRF signaling pathway. Increased expression of this gene has been
            associated with cancer progression and metastasis. [provided by
            RefSeq, Oct 2016].
            
            Transcript Variant: This variant (13), as well as variants 3, 9-12,
            and 14-15, encodes isoform b.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.171314.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1103
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.3"
     Protein         1..1103
                     /product="[F-actin]-monooxygenase MICAL2 isoform b"
                     /EC_number="1.14.13.225"
                     /note="flavoprotein oxidoreductase MICAL2; molecule
                     interacting with CasL protein 2; protein-methionine
                     sulfoxide oxidase MICAL2; microtubule associated
                     monoxygenase, calponin and LIM domain containing 2;
                     [F-actin]-methionine sulfoxide oxidase MICAL2;
                     [F-actin]-monooxygenase MICAL2; MICAL C-terminal like;
                     ebitein-1; ERK2-binding testicular protein 1; MICAL
                     C-terminal-like protein"
                     /calculated_mol_wt=124123
     Region          2..494
                     /region_name="Monooxygenase domain.
                     /evidence=ECO:0000250|UniProtKB:Q8VDP3"
                     /note="propagated from UniProtKB/Swiss-Prot (O94851.2)"
     Region          87..>226
                     /region_name="UbiH"
                     /note="2-polyprenyl-6-methoxyphenol hydroxylase and
                     related FAD-dependent oxidoreductases [Coenzyme transport
                     and metabolism, Energy production and conversion];
                     COG0654"
                     /db_xref="CDD:223727"
     Region          514..623
                     /region_name="CH_MICAL2_3-like"
                     /note="calponin homology (CH) domain found in molecule
                     interacting with CasL protein 2 (MICAL-2), MICAL-3, and
                     similar proteins; cd21195"
                     /db_xref="CDD:409044"
     Site            order(518,522,572,574..575,578..579,581,590..598,606,
                     608..609,611..612,615..616,619)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409044"
     Site            631
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94851.2)"
     Region          660..714
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94851.2)"
     Region          660..681
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000269|PubMed:24440334"
                     /note="propagated from UniProtKB/Swiss-Prot (O94851.2)"
     Region          981..1035
                     /region_name="LIM_Mical"
                     /note="The LIM domain of Mical (molecule interacting with
                     CasL); cd09439"
                     /db_xref="CDD:188823"
     Site            order(981,984,1002,1005,1008,1011,1031,1034)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188823"
     CDS             1..1103
                     /gene="MICAL2"
                     /gene_synonym="Ebitein1; MICAL-2; mical-cL; MICAL2PV1;
                     MICAL2PV2; MICALCL"
                     /coded_by="NM_001346297.2:306..3617"
                     /note="isoform b is encoded by transcript variant 13"
                     /db_xref="CCDS:CCDS60726.1"
                     /db_xref="GeneID:9645"
                     /db_xref="HGNC:HGNC:24693"
                     /db_xref="MIM:608881"
ORIGIN      
        1 mgenedekqa qagqvfenfv qastckgtlq afniltrhld ldpldhrnfy sklkskvttw
       61 kakalwykld krgshkeykr gksctntkcl ivgggpcglr taielaylga kvvvvekrds
      121 fsrnnvlhlw pftihdlrgl gakkfygkfc agsidhisir qlqlilfkva lmlgveihvn
      181 vefvkvlepp edqenqkigw raeflptdhs lsefefdvii gadgrrntle gfrrkefrgk
      241 laiaitanfi nrnstaeakv eeisgvafif nqkffqdlke etgidleniv yykdcthyfv
      301 mtakkqslld kgviindyid temllcaenv nqdnllsyar eaadfatnyq lpsldfamnh
      361 ygqpdvamfd ftcmyasena alvrerqahq llvalvgdsl lepfwpmgtg cargflaafd
      421 tawmvkswnq gtpplellae reslyrllpq ttpeninknf eqytldpgtr ypnlnshcvr
      481 phqvkhlyit kelehypler lgsvrrsvnl srkesdirps klltwcqqqt egyqhvnvtd
      541 lttswrsgla lcaiihrfrp elinfdslne ddavennqla fdvaerefgi ppvttgkema
      601 saqepdklsm vmylskfyel frgtplrpvd swrknygena dlslakssis nnylnltfpr
      661 krtprvdgqt gendmnkrrr kgftnldeps nfssrslgsn qecgsskegg nqnkvksman
      721 qllakfeest rnpslmkqer rvsgigkpvl csssgppvhs ccpkpeeatp spspplkrqf
      781 psvvvtghvl relkqvsags eclsrpwrar aksdlqlggt enfatlpstr praqalsgvl
      841 wrlqqveeki lqkraqnlan refhtknike kaahlasmfg hgdfpqnkll skglshthpp
      901 sppsrlpspd paassspstv dsasparklt vgkvssgiga aaevlvnlym ndhrpkaqat
      961 spdlesmrks fplnlggsdt cyfckkrvyv merlsaeghf fhrecfrcsi cattlrlaay
     1021 tfdcdegkfy ckphfihckt nskqrkrrae lkqqreeeat wqeqeaprrd tptesscava
     1081 aigtlegspp vhfslpvlhp llg
//
LOCUS       NP_001129510             555 aa            linear   PRI 28-DEC-2022
DEFINITION  zinc finger protein 415 isoform 1 [Homo sapiens].
ACCESSION   NP_001129510
VERSION     NP_001129510.2
DBSOURCE    REFSEQ: accession NM_001136038.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 555)
  AUTHORS   Kobayashi Y, Umemoto T, Takeshita Y, Kohyama N, Ohbayashi M, Sanada
            Y and Yamamoto T.
  TITLE     Functional characterization and substrate specificity of a novel
            gene encoding zinc finger-like protein, ZfLp, in Xenopus laevis
            oocytes
  JOURNAL   J Toxicol Sci 37 (4), 699-709 (2012)
   PUBMED   22863851
  REMARK    GeneRIF: ZfLp is a zinc finger protein that functions as a drug
            carrier protein.
REFERENCE   2  (residues 1 to 555)
  AUTHORS   Cheng Y, Wang Y, Li Y, Deng Y, Hu J, Mo X, Li N, Li Y, Luo N, Yuan
            W, Xiao J, Zhu C, Wu X and Liu M.
  TITLE     A novel human gene ZNF415 with five isoforms inhibits AP-1- and
            p53-mediated transcriptional activity
  JOURNAL   Biochem Biophys Res Commun 351 (1), 33-39 (2006)
   PUBMED   17055453
  REMARK    GeneRIF: ZNF415 isoforms in COS-7 cells inhibits the
            transcriptional activities of AP-1 and p53, suggesting that the
            ZNF415 protein may be involved in AP-1- and p53-mediated
            transcriptional activity.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA692431.1, DA367299.1, DA518713.1, AC010328.4 and R40095.1.
            On Aug 20, 2009 this sequence version replaced NP_001129510.1.
            
            Transcript Variant: This variant (1) encodes isoform 1.Variants 1,
            18, 19 and 20 encode the same protein (isoform 1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA518713.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146982, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..555
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..555
                     /product="zinc finger protein 415 isoform 1"
                     /calculated_mol_wt=63882
     Region          6..46
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          <112..374
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          220..238
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          244..>539
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          246..266
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(246,249,262,266)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(251,253,255,257..258,261..262,265,279,281,285..286,
                     289..290,293,307,309,311,313..314,317..318,321)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          274..294
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          302..322
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          330..350
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(330,333,346,350)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          358..378
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(358,361,374,378)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(363,365,367,369..370,373..374,377,391,393,397..398,
                     401..402,405,419,421,423,425..426,429..430,433)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          386..406
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          414..434
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          442..462
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          470..490
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          498..518
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          526..546
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..555
                     /gene="ZNF415"
                     /gene_synonym="Pact; ZfLp"
                     /coded_by="NM_001136038.4:357..2024"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS54313.1"
                     /db_xref="GeneID:55786"
                     /db_xref="HGNC:HGNC:20636"
                     /db_xref="MIM:619506"
ORIGIN      
        1 mdgdgltfrd vaiefsqdew kclnstqrtl yrdvmlenyr nlvsldlsrn cvikelapqq
       61 egnpgevfht vtleqhekhd ieefcfreik kkihdfdcqw rdderncnkv ttapkenltc
      121 rrdqrdrrgi gnksikhqlg lsflphphel qqfqaegkiy ecnhveksvn hgssvsppqi
      181 isstikthvs nkygtdfics slltqeqksc irekpyryie cdkalnhgsh mtvrqvshsg
      241 ekgykcdlcg kvfsqksnla rhwrvhtgek pykcnecdrs fsrnsclalh rrvhtgekpy
      301 kcyecdkvfs rnsclalhqk thigekpytc kecgkafsvr stltnhqvih sgkkpykcne
      361 cgkvfsqtss lathqrihtg ekpykcnecg kvfsqtssla rhwrihtgek pykcnecgkv
      421 fsynshlash rrvhtgekpy kcnecgkafs vhsnltthqv ihtgekpykc nqcgkgfsvh
      481 ssltthqvih tgekpykcne cgksfsvrpn ltrhqiihtg kkpykcsdcg ksfsvrpnlf
      541 rhqiihtkek pykrn
//
LOCUS       NP_001373017             312 aa            linear   PRI 29-DEC-2022
DEFINITION  olfactory receptor 1D2 [Homo sapiens].
ACCESSION   NP_001373017
VERSION     NP_001373017.1
DBSOURCE    REFSEQ: accession NM_001386088.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 312)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 312)
  AUTHORS   Ottaviano G, Zuccarello D, Menegazzo M, Perilli L, Marioni G, Frigo
            AC, Staffieri A and Foresta C.
  TITLE     Human olfactory sensitivity for bourgeonal and male infertility: a
            preliminary investigation
  JOURNAL   Eur Arch Otorhinolaryngol 270 (12), 3079-3086 (2013)
   PUBMED   23525651
  REMARK    GeneRIF: The present preliminary study seems to confirm the
            important role of OR1D2 both in nose and spermatozoa and may
            explain the idiopathic infertility of the study group.
REFERENCE   3  (residues 1 to 312)
  AUTHORS   Albertsen HM, Chettier R, Farrington P and Ward K.
  TITLE     Genome-wide association study link novel loci to endometriosis
  JOURNAL   PLoS One 8 (3), e58257 (2013)
   PUBMED   23472165
REFERENCE   4  (residues 1 to 312)
  AUTHORS   Wade F, Espagne A, Persuy MA, Vidic J, Monnerie R, Merola F,
            Pajot-Augy E and Sanz G.
  TITLE     Relationship between homo-oligomerization of a mammalian olfactory
            receptor and its activation state demonstrated by bioluminescence
            resonance energy transfer
  JOURNAL   J Biol Chem 286 (17), 15252-15259 (2011)
   PUBMED   21454689
  REMARK    GeneRIF: the homo-oligomerization status of the human OR1740
            receptor and its involvement in receptor activation upon odorant
            ligand binding were addressed
REFERENCE   5  (residues 1 to 312)
  AUTHORS   Cook BL, Steuerwald D, Kaiser L, Graveland-Bikker J, Vanberghem M,
            Berke AP, Herlihy K, Pick H, Vogel H and Zhang S.
  TITLE     Large-scale production and study of a synthetic G protein-coupled
            receptor: human olfactory receptor 17-4
  JOURNAL   Proc Natl Acad Sci U S A 106 (29), 11925-11930 (2009)
   PUBMED   19581598
REFERENCE   6  (residues 1 to 312)
  AUTHORS   Ben-Arie N, Lancet D, Taylor C, Khen M, Walker N, Ledbetter DH,
            Carrozzo R, Patel K, Sheer D, Lehrach H et al.
  TITLE     Olfactory receptor gene cluster on human chromosome 17: possible
            duplication of an ancestral receptor repertoire
  JOURNAL   Hum Mol Genet 3 (2), 229-235 (1994)
   PUBMED   8004088
REFERENCE   7  (residues 1 to 312)
  AUTHORS   Schurmans S, Muscatelli F, Miot F, Mattei MG, Vassart G and
            Parmentier M.
  TITLE     The OLFR1 gene encoding the HGMP07E putative olfactory receptor
            maps to the 17p13-->p12 region of the human genome and reveals an
            MspI restriction fragment length polymorphism
  JOURNAL   Cytogenet Cell Genet 63 (3), 200-204 (1993)
   PUBMED   8097991
REFERENCE   8  (residues 1 to 312)
  AUTHORS   Selbie LA, Townsend-Nicholson A, Iismaa TP and Shine J.
  TITLE     Novel G protein-coupled receptors: a gene family of putative human
            olfactory receptor sequences
  JOURNAL   Brain Res Mol Brain Res 13 (1-2), 159-163 (1992)
   PUBMED   1315913
REFERENCE   9  (residues 1 to 312)
  AUTHORS   Parmentier M, Libert F, Schurmans S, Schiffmann S, Lefort A,
            Eggerickx D, Ledent C, Mollereau C, Gerard C, Perret J et al.
  TITLE     Expression of members of the putative olfactory receptor gene
            family in mammalian germ cells
  JOURNAL   Nature 355 (6359), 453-455 (1992)
   PUBMED   1370859
REFERENCE   10 (residues 1 to 312)
  AUTHORS   Buck L and Axel R.
  TITLE     A novel multigene family may encode odorant receptors: a molecular
            basis for odor recognition
  JOURNAL   Cell 65 (1), 175-187 (1991)
   PUBMED   1840504
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC097370.10.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..312
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     Protein         1..312
                     /product="olfactory receptor 1D2"
                     /note="olfactory receptor OR17-6; olfactory receptor 17-4;
                     olfactory receptor-like protein HGMP07E"
                     /calculated_mol_wt=35109
     Site            5
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P34982.2)"
     Region          25..293
                     /region_name="7tmA_OR1_7-like"
                     /note="olfactory receptor families 1, 7, and related
                     proteins, member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15918"
                     /db_xref="CDD:320584"
     Region          26..52
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320584"
     Site            26..49
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P34982.2)"
     Site            58..79
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P34982.2)"
     Region          59..85
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320584"
     Site            order(81,84..85,97..102,104..105,108,153,155..159,195,
                     198..200,202..204,206..207,252,255..256,258..259,262,268,
                     270..272,275,278..279)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320584"
     Region          97..127
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320584"
     Site            101..120
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P34982.2)"
     Region          140..161
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320584"
     Site            140..158
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P34982.2)"
     Region          195..225
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320584"
     Site            195
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P34982.2)"
     Site            197..219
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P34982.2)"
     Region          232..262
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320584"
     Site            237..259
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P34982.2)"
     Region          268..293
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320584"
     Site            272..291
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P34982.2)"
     CDS             1..312
                     /gene="OR1D2"
                     /gene_synonym="OLFR1; OR17-4"
                     /coded_by="NM_001386088.1:370..1308"
                     /db_xref="CCDS:CCDS11019.1"
                     /db_xref="GeneID:4991"
                     /db_xref="HGNC:HGNC:8183"
                     /db_xref="MIM:164342"
ORIGIN      
        1 mdggnqsegs eflllgmses peqqrilfwm flsmylvtvv gnvliilais sdsrlhtpvy
       61 fflanlsftd lffvtntipk mlvnlqshnk aisyagcltq lyflvslval dnlilavmay
      121 dryvaiccpl hyttamspkl cilllslcwv lsvlygliht llmtrvtfcg srkihyifce
      181 myvllrmacs niqinhtvli atgcfiflip fgfviisyvl iirailrips vskkykafst
      241 cashlgavsl fygtlcmvyl kplhtysvkd svatvmyavv tpmmnpfiys lrnkdmhgal
      301 grlldkhfkr lt
//
LOCUS       NP_777591                263 aa            linear   PRI 29-DEC-2022
DEFINITION  G patch domain-containing protein 11 isoform 1 [Homo sapiens].
ACCESSION   NP_777591
VERSION     NP_777591.4
DBSOURCE    REFSEQ: accession NM_174931.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 263)
  AUTHORS   Casabonne D, Reina O, Benavente Y, Becker N, Maynadie M, Foretova
            L, Cocco P, Gonzalez-Neira A, Nieters A, Boffetta P, Middeldorp JM
            and de Sanjose S.
  TITLE     Single nucleotide polymorphisms of matrix metalloproteinase 9
            (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus
            in chronic lymphocytic leukemia: results from the European
            case-control study EpiLymph
  JOURNAL   Haematologica 96 (2), 323-327 (2011)
   PUBMED   21048031
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   2  (residues 1 to 263)
  AUTHORS   Ohta S, Bukowski-Wills JC, Sanchez-Pulido L, Alves Fde L, Wood L,
            Chen ZA, Platani M, Fischer L, Hudson DF, Ponting CP, Fukagawa T,
            Earnshaw WC and Rappsilber J.
  TITLE     The protein composition of mitotic chromosomes determined using
            multiclassifier combinatorial proteomics
  JOURNAL   Cell 142 (5), 810-821 (2010)
   PUBMED   20813266
REFERENCE   3  (residues 1 to 263)
  AUTHORS   Ozyildirim AM, Wistow GJ, Gao J, Wang J, Dickinson DP, Frierson HF
            Jr and Laurie GW.
  TITLE     The lacrimal gland transcriptome is an unusually rich source of
            rare and poorly characterized gene transcripts
  JOURNAL   Invest Ophthalmol Vis Sci 46 (5), 1572-1580 (2005)
   PUBMED   15851553
REFERENCE   4  (residues 1 to 263)
  AUTHORS   Chen J, Sun M, Lee S, Zhou G, Rowley JD and Wang SM.
  TITLE     Identifying novel transcripts and novel genes in the human genome
            by using novel SAGE tags
  JOURNAL   Proc Natl Acad Sci U S A 99 (19), 12257-12262 (2002)
   PUBMED   12213963
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK095667.1, AK294697.1 and AC007899.3.
            On Jan 15, 2020 this sequence version replaced NP_777591.3.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853559.18195.1,
                                           SRR14038194.4424072.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000674370.2/
                                                ENSP00000501347.1
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..263
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.2"
     Protein         1..263
                     /product="G patch domain-containing protein 11 isoform 1"
                     /note="coiled-coil domain-containing protein 75; g patch
                     domain-containing protein 11; centromere protein Y;
                     coiled-coil domain containing 75"
                     /calculated_mol_wt=30554
     Region          74..117
                     /region_name="G-patch"
                     /note="G-patch domain; pfam01585"
                     /db_xref="CDD:396249"
     Region          215..262
                     /region_name="DUF4187"
                     /note="Domain of unknown function (DUF4187); pfam13821"
                     /db_xref="CDD:433502"
     CDS             1..263
                     /gene="GPATCH11"
                     /gene_synonym="CCDC75; CENP-Y; CENPY"
                     /coded_by="NM_174931.4:67..858"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1785.4"
                     /db_xref="GeneID:253635"
                     /db_xref="HGNC:HGNC:26768"
ORIGIN      
        1 mklnmaeeed ymsdsfinvq edirpglpml rqirearrke ekqqeanlkn rqkslkeeeq
       61 errdiglkna lgcenkgfal lqkmgyksgq algksgggiv epiplniktg ksgigheasl
      121 krkaeekles yrkkihmknq aeekaaeqfr mrlknkqdem klegdlrrsq racqqldvqk
      181 niqvpreawy wlrleeetee deeekeqded eyksedlsvl eklqiltsyl reehlyciwc
      241 gtayedkedl ssncpgptsa dhd
//
LOCUS       NP_001371637             500 aa            linear   PRI 29-DEC-2022
DEFINITION  sialic acid-binding Ig-like lectin 5 isoform 2 precursor [Homo
            sapiens].
ACCESSION   NP_001371637 XP_011525740
VERSION     NP_001371637.1
DBSOURCE    REFSEQ: accession NM_001384708.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 500)
  AUTHORS   Muller R, Freitag-Wolf S, Weiner J 3rd, Chopra A, Top T, Dommisch H
            and Schaefer AS.
  TITLE     Case-only design identifies interactions of genetic risk variants
            at SIGLEC5 and PLG with the lncRNA CTD-2353F22.1 implying the
            importance of periodontal wound healing for disease aetiology
  JOURNAL   J Clin Periodontol 50 (1), 90-101 (2023)
   PUBMED   36129033
  REMARK    GeneRIF: Case-only design identifies interactions of genetic risk
            variants at SIGLEC5 and PLG with the lncRNA CTD-2353F22.1 implying
            the importance of periodontal wound healing for disease aetiology.
REFERENCE   2  (residues 1 to 500)
  AUTHORS   Akiyama M, Eura Y and Kokame K.
  TITLE     Siglec-5 and Siglec-14 mediate the endocytosis of ADAMTS13
  JOURNAL   Thromb Res 219, 49-59 (2022)
   PUBMED   36116391
  REMARK    GeneRIF: Siglec-5 and Siglec-14 mediate the endocytosis of
            ADAMTS13.
REFERENCE   3  (residues 1 to 500)
  AUTHORS   Vuchkovska A, Glanville DG, Scurti GM, Nishimura MI, White P,
            Ulijasz AT and Iwashima M.
  TITLE     Siglec-5 is an inhibitory immune checkpoint molecule for human T
            cells
  JOURNAL   Immunology 166 (2), 238-248 (2022)
   PUBMED   35290663
  REMARK    GeneRIF: Siglec-5 is an inhibitory immune checkpoint molecule for
            human T cells.
REFERENCE   4  (residues 1 to 500)
  AUTHORS   Mueller R, Chopra A, Dommisch H and Schaefer AS.
  TITLE     Periodontitis Risk Variants at SIGLEC5 Impair ERG and MAFB Binding
  JOURNAL   J Dent Res 101 (5), 551-558 (2022)
   PUBMED   34852650
  REMARK    GeneRIF: Periodontitis Risk Variants at SIGLEC5 Impair ERG and MAFB
            Binding.
REFERENCE   5  (residues 1 to 500)
  AUTHORS   Carlin AF, Chang YC, Areschoug T, Lindahl G, Hurtado-Ziola N, King
            CC, Varki A and Nizet V.
  TITLE     Group B Streptococcus suppression of phagocyte functions by
            protein-mediated engagement of human Siglec-5
  JOURNAL   J Exp Med 206 (8), 1691-1699 (2009)
   PUBMED   19596804
  REMARK    GeneRIF: Group B Streptococcus beta protein binding to Siglec-5
            functions to impair leukocyte phagocytosis, oxidative burst, and
            extracellular trap production, promoting bacterial survival.
REFERENCE   6  (residues 1 to 500)
  AUTHORS   Erickson-Miller CL, Freeman SD, Hopson CB, D'Alessio KJ, Fischer
            EI, Kikly KK, Abrahamson JA, Holmes SD and King AG.
  TITLE     Characterization of Siglec-5 (CD170) expression and functional
            activity of anti-Siglec-5 antibodies on human phagocytes
  JOURNAL   Exp Hematol 31 (5), 382-388 (2003)
   PUBMED   12763136
  REMARK    GeneRIF: expression of Siglec-5 on cells of the myelomonocytic
            lineage and alteration of its expression by inflammatory stimuli
            suggest a role for this protein in cell/cell interactions following
            microbial exposure.
REFERENCE   7  (residues 1 to 500)
  AUTHORS   Yousef GM, Ordon MH, Foussias G and Diamandis EP.
  TITLE     Genomic organization of the siglec gene locus on chromosome 19q13.4
            and cloning of two new siglec pseudogenes
  JOURNAL   Gene 286 (2), 259-270 (2002)
   PUBMED   11943481
REFERENCE   8  (residues 1 to 500)
  AUTHORS   Patel N, Brinkman-Van der Linden EC, Altmann SW, Gish K,
            Balasubramanian S, Timans JC, Peterson D, Bell MP, Bazan JF, Varki
            A and Kastelein RA.
  TITLE     OB-BP1/Siglec-6. a leptin- and sialic acid-binding protein of the
            immunoglobulin superfamily
  JOURNAL   J Biol Chem 274 (32), 22729-22738 (1999)
   PUBMED   10428856
  REMARK    Erratum:[J Biol Chem 1999 Sep 24;274(39):28058]
REFERENCE   9  (residues 1 to 500)
  AUTHORS   Kim HS.
  TITLE     Assignment of the human OB binding protein-2 gene (CD33L2) to
            chromosome 19q13.3 by radiation hybrid mapping
  JOURNAL   Cytogenet Cell Genet 84 (1-2), 96 (1999)
   PUBMED   10343116
REFERENCE   10 (residues 1 to 500)
  AUTHORS   Cornish AL, Freeman S, Forbes G, Ni J, Zhang M, Cepeda M, Gentz R,
            Augustus M, Carter KC and Crocker PR.
  TITLE     Characterization of siglec-5, a novel glycoprotein expressed on
            myeloid cells related to CD33
  JOURNAL   Blood 92 (6), 2123-2132 (1998)
   PUBMED   9731071
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018755.3.
            On Jun 26, 2020 this sequence version replaced XP_011525740.1.
            
            Summary: This gene encodes a member of the sialic acid-binding
            immunoglobulin-like lectin (Siglec) family. These cell surface
            lectins are characterized by structural motifs in the
            immunoglobulin (Ig)-like domains and sialic acid recognition sites
            in the first Ig V set domain. The encoded protein is a member of
            the CD33-related subset of Siglecs and inhibits the activation of
            several cell types including monocytes, macrophages and
            neutrophils. Binding of group B Streptococcus (GBS) to the encoded
            protein plays a role in GBS immune evasion. [provided by RefSeq,
            Feb 2012].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.3877983.1,
                                           SRR14038191.181768.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..500
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     Protein         1..500
                     /product="sialic acid-binding Ig-like lectin 5 isoform 2
                     precursor"
                     /note="CD33 antigen-like 2; sialic acid-binding
                     immunoglobulin-like lectin 5; OB-binding protein 2;
                     obesity-binding protein 2"
                     /calculated_mol_wt=53378
     sig_peptide     1..16
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1764
     Region          21..140
                     /region_name="IgV_CD33"
                     /note="Immunoglobulin Variable (IgV) domain at the
                     N-terminus of CD33 and related Siglecs (sialic
                     acid-binding Ig-like lectins); cd05712"
                     /db_xref="CDD:409377"
     Region          21..45
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409377"
     Region          21..25
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409377"
     Region          28..32
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409377"
     Region          34..45
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409377"
     Region          46..55
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409377"
     Region          56..63
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409377"
     Region          56..63
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409377"
     Region          64..87
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409377"
     Region          74..77
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409377"
     Region          88..121
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409377"
     Region          89..93
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409377"
     Region          99..107
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409377"
     Site            100
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O15389.1)"
     Region          114..122
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409377"
     Site            order(119,128..129)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:409377"
     Region          122..126
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409377"
     Region          127..140
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409377"
     Region          127..140
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409377"
     Region          146..231
                     /region_name="IgC2_CD33_d2_like"
                     /note="Second immunoglobulin domain of Cluster of
                     Differentiation (CD) 33 and related Siglecs; member of the
                     C2-set of IgSF domains; cd20987"
                     /db_xref="CDD:409579"
     Region          146..150
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409579"
     Region          159..165
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409579"
     Region          177..182
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409579"
     Region          189..210
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15389.1)"
     Region          196..202
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409579"
     Region          209..216
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409579"
     Site            210
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O15389.1)"
     Region          223..231
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409579"
     Site            231
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O15389.1)"
     Site            253
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O15389.1)"
     Region          254..331
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          265..269
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          278..282
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          300..304
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          311..316
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          326..329
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Site            328
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O15389.1)"
     Region          <352..425
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          362..366
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            375
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O15389.1)"
     Site            384
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O15389.1)"
     Site            393
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O15389.1)"
     Region          394..398
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          420..423
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Site            442..462
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O15389.1)"
     CDS             1..500
                     /gene="SIGLEC5"
                     /gene_synonym="CD170; CD33L2; OB-BP2; OBBP2; SIGLEC-5"
                     /coded_by="NM_001384708.1:67..1569"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="GeneID:8778"
                     /db_xref="HGNC:HGNC:10874"
                     /db_xref="MIM:604200"
ORIGIN      
        1 mlpllllpll wggslqekpv yelqvqksvt vqeglcvlvp csfsypwrsw ysspplyvyw
       61 frdgeipyya evvatnnpdr rvkpetqgrf rllgdvqkkn cslsigdarm edtgsyffrv
      121 ergrdvkysy qqnklnlevt aliekpdihf leplesgrpt rlscslpgsc eagppltfsw
      181 tgnalspldp ettrsseltl tprpedhgtn ltcqmkrqga qvttertvql nvsyapqtit
      241 ifrngialei lqntsylpvl egqalrllcd apsnppahls wfqgspalna tpisntgile
      301 lrrvrsaeeg gftcraqhpl gflqiflnls vyslpqllgp scsweaeglh crcsfrarpa
      361 pslcwrleek plegnssqgs fkvnsssagp wansslilhg glssdlkvsc kawniygsqs
      421 gsvlllqgrs nlgtgvvpaa lggagvmall ciclcliffl mvpgrspgqt apeikhlllg
      481 mplpwknkrs simpplvflr
//
LOCUS       NP_001372403             865 aa            linear   PRI 29-DEC-2022
DEFINITION  neuroblastoma breakpoint family member 11 isoform b [Homo sapiens].
ACCESSION   NP_001372403
VERSION     NP_001372403.1
DBSOURCE    REFSEQ: accession NM_001385474.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 865)
  AUTHORS   Tsuritani K, Irie T, Yamashita R, Sakakibara Y, Wakaguri H, Kanai
            A, Mizushima-Sugano J, Sugano S, Nakai K and Suzuki Y.
  TITLE     Distinct class of putative 'non-conserved' promoters in humans:
            comparative studies of alternative promoters of human and mouse
            genes
  JOURNAL   Genome Res 17 (7), 1005-1014 (2007)
   PUBMED   17567985
REFERENCE   2  (residues 1 to 865)
  AUTHORS   Vandepoele K, Van Roy N, Staes K, Speleman F and van Roy F.
  TITLE     A novel gene family NBPF: intricate structure generated by gene
            duplications during primate evolution
  JOURNAL   Mol Biol Evol 22 (11), 2265-2274 (2005)
   PUBMED   16079250
REFERENCE   3  (residues 1 to 865)
  AUTHORS   Laureys G, Speleman F, Versteeg R, van der Drift P, Chan A, Leroy
            J, Francke U, Opdenakker G and Van Roy N.
  TITLE     Constitutional translocation t(1;17)(p36.31-p36.13;q11.2-q12.1) in
            a neuroblastoma patient. Establishment of somatic cell hybrids and
            identification of PND/A12M2 on chromosome 1 and NF1/SCYA7 on
            chromosome 17 as breakpoint flanking single copy markers
  JOURNAL   Oncogene 10 (6), 1087-1093 (1995)
   PUBMED   7700633
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC239803.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853558.1635.1,
                                           SRR14038193.732356.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..865
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     Protein         1..865
                     /product="neuroblastoma breakpoint family member 11
                     isoform b"
                     /note="neuroblastoma breakpoint family, member 24;
                     neuroblastoma breakpoint family member 11"
                     /calculated_mol_wt=99302
     Region          <11..>401
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          161..200
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86T75.3)"
     Region          181..240
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          448..511
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          450..475
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86T75.3)"
     Region          520..567
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86T75.3)"
     Region          542..596
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          605..671
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          680..747
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          755..821
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          829..865
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86T75.3)"
     CDS             1..865
                     /gene="NBPF11"
                     /gene_synonym="NBPF24"
                     /coded_by="NM_001385474.1:1259..3856"
                     /note="isoform b is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS41381.2"
                     /db_xref="GeneID:200030"
                     /db_xref="HGNC:HGNC:31993"
                     /db_xref="MIM:614001"
ORIGIN      
        1 mvvsagpwss ekaemnilei neklrpqlae nkqqfrnlke rcfltqlagf lanrqkkyky
       61 eeckdlikfm lrnerqfkee klaeqlkqae elrqykvlvh sqereltqlr eklregrdas
      121 rslnehlqal ltpdepdksq gqdlqeqlae gcrlaqhlvq klspendede dedvqveede
      181 kvlessapre vqkaeeskvp edsleecait csnshgpcds iqphknikit feedkvnssl
      241 vvdresshdg cqdalnilpv pgptssatnv smvvsagpls sekaemnile ineklcpqla
      301 ekkqqfrslk ekcfvtqvac flakqqnkyk yeeckdliks mlrnerqfke eklaeqlkqa
      361 eelrqykvlv hsqereltql reklregrda srslnehlqa lltpdepdks qgqdlqeqla
      421 egcrlaqhlv qklspendnd ddedvqveva ekvqkssspr emqkaeekev pedsleecai
      481 tcsnshgpyd snqphrktki tfeedkvdst ligssshvew edavhiipen esddeeeeek
      541 gpvsprnlqe seeeevpqes wdegystlsi pperlasyqs ysstfhslee qqvcmavdig
      601 rhrwdqvkke dqeatgprls relldekepe vlqdsldrcy stpsvylglt dscqpyrsaf
      661 yvleqqrigl avdmdeieky qeveedqdps cprlsrella ekepevlqds ldrcystpsg
      721 ylelpdlgqp yrsavyslee qylglaldvd rikkdqeeee dqgppcprls rellevvepe
      781 vlqdsldviq llpvvlnslt pasptevpfm hwrknmlafl ltweklkrrg rgrkegeedq
      841 rrkeegeekk gkkikthhap gsaac
//
LOCUS       NP_001364966             915 aa            linear   PRI 31-DEC-2022
DEFINITION  sorting nexin-25 isoform 5 [Homo sapiens].
ACCESSION   NP_001364966
VERSION     NP_001364966.1
DBSOURCE    REFSEQ: accession NM_001378037.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 915)
  AUTHORS   Lauzier A, Bossanyi MF, Larcher R, Nassari S, Ugrankar R, Henne WM
            and Jean S.
  TITLE     Snazarus and its human ortholog SNX25 modulate autophagic flux
  JOURNAL   J Cell Sci 135 (5) (2022)
   PUBMED   34821359
REFERENCE   2  (residues 1 to 915)
  AUTHORS   Lee JH, Cheng R, Vardarajan B, Lantigua R, Reyes-Dumeyer D, Ortmann
            W, Graham RR, Bhangale T, Behrens TW, Medrano M, Jimenez-Velazquez
            IZ and Mayeux R.
  TITLE     Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation
            in PSEN1 With Familial Alzheimer Disease Among Caribbean Hispanics
  JOURNAL   JAMA Neurol 72 (9), 1043-1051 (2015)
   PUBMED   26214276
  REMARK    GeneRIF: This study confirmed that SNX25 as genetic modifiers of
            age at onset of Alzheimer disease.
REFERENCE   3  (residues 1 to 915)
  AUTHORS   Du Y, Zou Y, Yu W, Shi R, Zhang M, Yang W, Duan J, Deng Y, Wang X
            and Lu Y.
  TITLE     Expression pattern of sorting Nexin 25 in temporal lobe epilepsy: a
            study on patients and pilocarpine-induced rats
  JOURNAL   Brain Res 1509, 79-85 (2013)
   PUBMED   23518199
  REMARK    GeneRIF: upregulation of SNX25 might be involved in the development
            of temporal lobe epilepsy.
REFERENCE   4  (residues 1 to 915)
  AUTHORS   Hao X, Wang Y, Ren F, Zhu S, Ren Y, Jia B, Li YP, Shi Y and Chang
            Z.
  TITLE     SNX25 regulates TGF-beta signaling by enhancing the receptor
            degradation
  JOURNAL   Cell Signal 23 (5), 935-946 (2011)
   PUBMED   21266196
  REMARK    GeneRIF: SNX25 negatively regulates TGF-beta signaling by enhancing
            the receptor degradation through lysosome pathway.
REFERENCE   5  (residues 1 to 915)
  AUTHORS   Worby CA and Dixon JE.
  TITLE     Sorting out the cellular functions of sorting nexins
  JOURNAL   Nat Rev Mol Cell Biol 3 (12), 919-931 (2002)
   PUBMED   12461558
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol. 2003 Feb;4(2):156.]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073344.7.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR4352441.495251.1,
                                           SRR9304717.387464.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..915
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1"
     Protein         1..915
                     /product="sorting nexin-25 isoform 5"
                     /calculated_mol_wt=103955
     Region          166..321
                     /region_name="PXA"
                     /note="PXA domain; pfam02194"
                     /db_xref="CDD:426650"
     Region          455..563
                     /region_name="RGS_SNX25"
                     /note="Regulator of G protein signaling (RGS) domain found
                     in the Sorting Nexin 25 (SNX25) protein; cd08720"
                     /db_xref="CDD:188675"
     Region          666..768
                     /region_name="PX_domain"
                     /note="The Phox Homology domain, a phosphoinositide
                     binding module; cl02563"
                     /db_xref="CDD:445832"
     Site            order(716..718,745..746,758)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:132768"
     Region          810..>889
                     /region_name="Nexin_C"
                     /note="Sorting nexin C terminal; pfam08628"
                     /db_xref="CDD:430115"
     CDS             1..915
                     /gene="SNX25"
                     /gene_synonym="MSTP043; SBBI31"
                     /coded_by="NM_001378037.2:230..2977"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:83891"
                     /db_xref="HGNC:HGNC:21883"
ORIGIN      
        1 mhpdatdsgg agpsparaag aggrpvsgfr gerrpespgd aeaaaaaapg apggrswwkp
       61 vavaalaava lsflgpgsge aagaaglssv lfrlslylsc aaaafllgil falvcrspra
      121 qppdfaaaws rlaatsaarr ppgspvygns hesaqsrrvv ishnmdkalk evfdysyrdy
      181 ilswygnlsr degqlyhlll edfweiarql hhrlshvdvv kvvcndvvrt llthfcdlka
      241 anarheeqpr pfvlhaclrn sddevrflqt csrvlvfcll pskdvqslsl rimlaeiltt
      301 kvlkpvvell snpdyinqml laqlayreqm nehhkrayty apsyedfikl insnsdvefl
      361 kqlryqivve iiqattissf pqlkrhkgke taamkadllr arnmkryinq ltvakkqcek
      421 ririlggpay dqqedgalde gegpqsqkil qfedilantf yrehfgmyme rmdkralisf
      481 wesvehlkna nkneipqlvg eiyqnffves keisveksly keiqqclvgn kgievfykiq
      541 edvyetlkdr yypsfivsdl yekllikeee khasqmisnk demgprdeag eeavddgtnq
      601 ineqasfavn klrelnekle ykrqalnsiq napkpdkkiv sklkdeiili ekertdlqlh
      661 martdwwcen lgmwkasits gevteengeq lpcyfvmvsl qevggvetkn wtvprrlsef
      721 qnlhrklsec vpslkkvqlp slsklpfksi dqkfmekskn qlnkflqeet eedsdlsdyg
      781 ddvdgrkdal aepcfmlige ifelrgmfkw vrrtlialvq vtfgrtinkq irdtvswifs
      841 eqmlvyyini frdafwpngk lappttirsk eqsqetkqra qqkllenipg nilynekkkd
      901 htllshflsl akkly
//
LOCUS       NP_001159755             458 aa            linear   PRI 31-DEC-2022
DEFINITION  repulsive guidance molecule A isoform 1 [Homo sapiens].
ACCESSION   NP_001159755
VERSION     NP_001159755.1
DBSOURCE    REFSEQ: accession NM_001166283.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 458)
  AUTHORS   Liu D, Zusman BE, Shaffer JR, Li Y, Arockiaraj AI, Liu S, Weeks DE,
            Desai SM, Kochanek PM, Puccio AM, Okonkwo DO, Conley YP and Jha RM.
  TITLE     Decreased DNA Methylation of RGMA is Associated with Intracranial
            Hypertension After Severe Traumatic Brain Injury: An Exploratory
            Epigenome-Wide Association Study
  JOURNAL   Neurocrit Care 37 (1), 26-37 (2022)
   PUBMED   35028889
  REMARK    GeneRIF: Decreased DNA Methylation of RGMA is Associated with
            Intracranial Hypertension After Severe Traumatic Brain Injury: An
            Exploratory Epigenome-Wide Association Study.
REFERENCE   2  (residues 1 to 458)
  AUTHORS   Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA,
            Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X,
            Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang
            B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P,
            Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe
            F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch
            C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras
            A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M,
            Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers
            C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM,
            Elliott P, Walsh T, Tenesa A, Fawkes A, Murphy L, Rowan K, Ponting
            CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry
            SC, Moutsianas L, Law A, Caulfield MJ and Baillie JK.
  CONSRTM   GenOMICC investigators; 23andMe investigators; COVID-19 Human
            Genetics Initiative
  TITLE     Whole-genome sequencing reveals host factors underlying critical
            COVID-19
  JOURNAL   Nature 607 (7917), 97-103 (2022)
   PUBMED   35255492
REFERENCE   3  (residues 1 to 458)
  AUTHORS   Tang J, Zeng X, Li H, Ju L, Feng J and Yang J.
  TITLE     Repulsive Guidance Molecule-a and Central Nervous System Diseases
  JOURNAL   Biomed Res Int 2021, 5532116 (2021)
   PUBMED   33997000
  REMARK    GeneRIF: Repulsive Guidance Molecule-a and Central Nervous System
            Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 458)
  AUTHORS   Li Y, Wang YW, Chen X, Ma RR, Guo XY, Liu HT, Jiang SJ, Wei JM and
            Gao P.
  TITLE     MicroRNA-4472 Promotes Tumor Proliferation and Aggressiveness in
            Breast Cancer by Targeting RGMA and Inducing EMT
  JOURNAL   Clin Breast Cancer 20 (2), e113-e126 (2020)
   PUBMED   31899158
  REMARK    GeneRIF: MicroRNA-4472 Promotes Tumor Proliferation and
            Aggressiveness in Breast Cancer by Targeting RGMA and Inducing EMT.
REFERENCE   5  (residues 1 to 458)
  AUTHORS   Lu Y, Li Y, Wang Z, Xie S, Wang Q, Lei X, Ruan Y and Li J.
  TITLE     Downregulation of RGMA by HIF-1A/miR-210-3p axis promotes cell
            proliferation in oral squamous cell carcinoma
  JOURNAL   Biomed Pharmacother 112, 108608 (2019)
   PUBMED   30798120
  REMARK    GeneRIF: RGMA is regulated by the HIF1A/miR-210 axis and inhibits
            oral squamous cell carcinoma.
REFERENCE   6  (residues 1 to 458)
  AUTHORS   Xia Y, Yu PB, Sidis Y, Beppu H, Bloch KD, Schneyer AL and Lin HY.
  TITLE     Repulsive guidance molecule RGMa alters utilization of bone
            morphogenetic protein (BMP) type II receptors by BMP2 and BMP4
  JOURNAL   J Biol Chem 282 (25), 18129-18140 (2007)
   PUBMED   17472960
  REMARK    GeneRIF: RGMa facilitates the use of ActRIIA by endogenous BMP2 and
            BMP4 ligands that otherwise prefer signaling via BMPRII and
            increased utilization of ActRIIA leads to generation of an enhanced
            BMP signal
REFERENCE   7  (residues 1 to 458)
  AUTHORS   Schwab JM, Monnier PP, Schluesener HJ, Conrad S, Beschorner R, Chen
            L, Meyermann R and Mueller BK.
  TITLE     Central nervous system injury-induced repulsive guidance molecule
            expression in the adult human brain
  JOURNAL   Arch Neurol 62 (10), 1561-1568 (2005)
   PUBMED   16216939
  REMARK    GeneRIF: Following central nervous system injury, RGM, a novel,
            potent axonal growth inhibitor, is present in axonal growth
            impediments: the mature myelin, choroid plexus, and components of
            the developing scar.
REFERENCE   8  (residues 1 to 458)
  AUTHORS   Babitt JL, Zhang Y, Samad TA, Xia Y, Tang J, Campagna JA, Schneyer
            AL, Woolf CJ and Lin HY.
  TITLE     Repulsive guidance molecule (RGMa), a DRAGON homologue, is a bone
            morphogenetic protein co-receptor
  JOURNAL   J Biol Chem 280 (33), 29820-29827 (2005)
   PUBMED   15975920
REFERENCE   9  (residues 1 to 458)
  AUTHORS   Rajagopalan S, Deitinghoff L, Davis D, Conrad S, Skutella T,
            Chedotal A, Mueller BK and Strittmatter SM.
  TITLE     Neogenin mediates the action of repulsive guidance molecule
  JOURNAL   Nat Cell Biol 6 (8), 756-762 (2004)
   PUBMED   15258590
REFERENCE   10 (residues 1 to 458)
  AUTHORS   Brinks H, Conrad S, Vogt J, Oldekamp J, Sierra A, Deitinghoff L,
            Bechmann I, Alvarez-Bolado G, Heimrich B, Monnier PP, Mueller BK
            and Skutella T.
  TITLE     The repulsive guidance molecule RGMa is involved in the formation
            of afferent connections in the dentate gyrus
  JOURNAL   J Neurosci 24 (15), 3862-3869 (2004)
   PUBMED   15084667
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087641.5, KF456122.1 and
            AC013394.12.
            
            Summary: This gene encodes a member of the repulsive guidance
            molecule family. The encoded protein is a
            glycosylphosphatidylinositol-anchored glycoprotein that functions
            as an axon guidance protein in the developing and adult central
            nervous system. This protein may also function as a tumor
            suppressor in some cancers. Alternate splicing results in multiple
            transcript variants. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) encodes the longest isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK299363.1, SRR18074969.382267.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
                                   variant(s)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..458
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     Protein         1..458
                     /product="repulsive guidance molecule A isoform 1"
                     /note="repulsive guidance molecule A; RGM domain family,
                     member A; repulsive guidance molecule family member a"
                     /calculated_mol_wt=49918
     Region          56..229
                     /region_name="RGM_N"
                     /note="Repulsive guidance molecule (RGM) N-terminus;
                     pfam06535"
                     /db_xref="CDD:428994"
     Region          234..414
                     /region_name="RGM_C"
                     /note="Repulsive guidance molecule (RGM) C-terminus;
                     pfam06534"
                     /db_xref="CDD:428993"
     CDS             1..458
                     /gene="RGMA"
                     /gene_synonym="RGM"
                     /coded_by="NM_001166283.2:232..1608"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS53974.1"
                     /db_xref="GeneID:56963"
                     /db_xref="HGNC:HGNC:30308"
                     /db_xref="MIM:607362"
ORIGIN      
        1 mgglgprrag tsrerlvvtg ragwmgmgrg agrsalgfwp tlafllcsfp aatspckilk
       61 cnsefwsats gshapasddt pefcaalrsy alctrrtart crgdlayhsa vhgiedlmsq
      121 hncskdgpts qprlrtlppa gdsqersdsp eichyeksfh khsatpnyth cglfgdphlr
      181 tftdrfqtck vqgawplidn nylnvqvtnt pvlpgsaata tskltiifkn fqecvdqkvy
      241 qaemdelpaa fvdgsknggd khganslkit ekvsgqhvei qakyigttiv vrqvgryltf
      301 avrmpeevvn avedwdsqgl ylclrgcpln qqidfqafht naegtgarrl aaaspaptap
      361 etfpyetava kckeklpved lyyqacvfdl lttgdvnftl aayyaledvk mlhsnkdklh
      421 lyertrdlpg raaaglplap rpllgalvpl lallpvfc
//
LOCUS       NP_001393962             461 aa            linear   PRI 01-JAN-2023
DEFINITION  5'-AMP-activated protein kinase subunit gamma-2 isoform o [Homo
            sapiens].
ACCESSION   NP_001393962
VERSION     NP_001393962.1
DBSOURCE    REFSEQ: accession NM_001407033.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 461)
  AUTHORS   Zhang J, Han X, Lu Q, Feng Y, Ma A and Wang T.
  TITLE     Left ventricular non-compaction cardiomyopathy associated with the
            PRKAG2 mutation
  JOURNAL   BMC Med Genomics 15 (1), 214 (2022)
   PUBMED   36221081
  REMARK    GeneRIF: Left ventricular non-compaction cardiomyopathy associated
            with the PRKAG2 mutation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 461)
  AUTHORS   Komurcu-Bayrak E, Kalkan MA, Coban N, Ozsait-Selcuk B and Bayrak F.
  TITLE     Identification of the pathogenic effects of missense variants
            causing PRKAG2 cardiomyopathy
  JOURNAL   Arch Biochem Biophys 727, 109340 (2022)
   PUBMED   35787834
  REMARK    GeneRIF: Identification of the pathogenic effects of missense
            variants causing PRKAG2 cardiomyopathy.
REFERENCE   3  (residues 1 to 461)
  AUTHORS   Gong X, Yu P, Wu T, He Y, Zhou K, Hua Y, Lin S, Wang T, Huang H and
            Li Y.
  TITLE     Controversial molecular functions of CBS versus non-CBS domain
            variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report
            and literature review
  JOURNAL   Mol Genet Genomic Med 10 (7), e1962 (2022)
   PUBMED   35588295
  REMARK    GeneRIF: Controversial molecular functions of CBS versus non-CBS
            domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case
            report and literature review.
            Review article
REFERENCE   4  (residues 1 to 461)
  AUTHORS   Rodriguez Ortuno J, Pena Pena ML and Lopez Haldon JE.
  TITLE     Hypertrophic cardiomyopathy phenocopy (PRKAG2 syndrome) due to
            p.Arg302Gln mutation
  JOURNAL   Med Clin (Barc) 158 (7), 340-341 (2022)
   PUBMED   34656342
  REMARK    GeneRIF: Hypertrophic cardiomyopathy phenocopy (PRKAG2 syndrome)
            due to p.Arg302Gln mutation.', trans 'Fenocopia de miocardiopatia
            hipertrofica (sindrome de PRKAG2) debido a la mutacion
            P.Arg302.Gln.
REFERENCE   5  (residues 1 to 461)
  AUTHORS   Maron BJ and Maron MS.
  TITLE     PRKAG2 Glycogen Storage Disease Cardiomyopathy: Out of the Darkness
            and Into the Light
  JOURNAL   J Am Coll Cardiol 76 (2), 198-200 (2020)
   PUBMED   32646570
REFERENCE   6  (residues 1 to 461)
  AUTHORS   Gollob MH, Green MS, Tang AS, Gollob T, Karibe A, Ali Hassan AS,
            Ahmad F, Lozado R, Shah G, Fananapazir L, Bachinski LL and Roberts
            R.
  TITLE     Identification of a gene responsible for familial
            Wolff-Parkinson-White syndrome
  JOURNAL   N Engl J Med 344 (24), 1823-1831 (2001)
   PUBMED   11407343
  REMARK    Erratum:[N Engl J Med 2001 Aug 16;345(7):552. Hassan AS [corrected
            to Ali Hassan AS]]
REFERENCE   7  (residues 1 to 461)
  AUTHORS   Blair E, Redwood C, Ashrafian H, Oliveira M, Broxholme J, Kerr B,
            Salmon A, Ostman-Smith I and Watkins H.
  TITLE     Mutations in the gamma(2) subunit of AMP-activated protein kinase
            cause familial hypertrophic cardiomyopathy: evidence for the
            central role of energy compromise in disease pathogenesis
  JOURNAL   Hum Mol Genet 10 (11), 1215-1220 (2001)
   PUBMED   11371514
REFERENCE   8  (residues 1 to 461)
  AUTHORS   MacRae CA, Ghaisas N, Kass S, Donnelly S, Basson CT, Watkins HC,
            Anan R, Thierfelder LH, McGarry K, Rowland E et al.
  TITLE     Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White
            syndrome maps to a locus on chromosome 7q3
  JOURNAL   J Clin Invest 96 (3), 1216-1220 (1995)
   PUBMED   7657794
REFERENCE   9  (residues 1 to 461)
  AUTHORS   Hofmann B, Nishanian P, Nguyen T, Insixiengmay P and Fahey JL.
  TITLE     Human immunodeficiency virus proteins induce the inhibitory
            cAMP/protein kinase A pathway in normal lymphocytes
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6676-6680 (1993)
   PUBMED   7688126
REFERENCE   10 (residues 1 to 461)
  AUTHORS   Hofmann B, Nishanian P, Baldwin RL, Insixiengmay P, Nel A and Fahey
            JL.
  TITLE     HIV inhibits the early steps of lymphocyte activation, including
            initiation of inositol phospholipid metabolism
  JOURNAL   J Immunol 145 (11), 3699-3705 (1990)
   PUBMED   1978848
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC074257.5, AC093583.3,
            AC006358.6 and AC006966.3.
            
            Summary: AMP-activated protein kinase (AMPK) is a heterotrimeric
            protein composed of a catalytic alpha subunit, a noncatalytic beta
            subunit, and a noncatalytic regulatory gamma subunit. Various forms
            of each of these subunits exist, encoded by different genes. AMPK
            is an important energy-sensing enzyme that monitors cellular energy
            status and functions by inactivating key enzymes involved in
            regulating de novo biosynthesis of fatty acid and cholesterol. This
            gene is a member of the AMPK gamma subunit family. Mutations in
            this gene have been associated with Wolff-Parkinson-White syndrome,
            familial hypertrophic cardiomyopathy, and glycogen storage disease
            of the heart. Alternate transcriptional splice variants, encoding
            different isoforms, have been characterized. [provided by RefSeq,
            Jan 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.19038.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..461
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     Protein         1..461
                     /product="5'-AMP-activated protein kinase subunit gamma-2
                     isoform o"
                     /note="5'-AMP-activated protein kinase subunit gamma-2;
                     AMPK subunit gamma-2; protein kinase, AMP-activated, gamma
                     2 non-catalytic subunit; epididymis secretory sperm
                     binding protein"
                     /calculated_mol_wt=51401
     Region          161..298
                     /region_name="CBS_euAMPK_gamma-like_repeat1"
                     /note="Two tandem repeats of the cystathionine
                     beta-synthase (CBS pair) domains found in AMP-activated
                     protein kinase gamma-like proteins, repeat 1; cd04618"
                     /db_xref="CDD:341388"
     Site            order(169,171..173,195..197,276,290,292,294..295,298)
                     /site_type="other"
                     /note="ligand binding site II [chemical binding]"
                     /db_xref="CDD:341388"
     Region          169..242
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341388"
     Site            order(195,209,213..214,217,254,276..278,294)
                     /site_type="other"
                     /note="ligand binding site I [chemical binding]"
                     /db_xref="CDD:341388"
     Region          254..298
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341388"
     Region          324..447
                     /region_name="CBS_euAMPK_gamma-like_repeat2"
                     /note="CBS pair domain found in 5'-AMP (adenosine
                     monophosphate)-activated protein kinase; cd04641"
                     /db_xref="CDD:341399"
     Site            order(325,327..329,351..353,423,436,438,440..441,444)
                     /site_type="other"
                     /note="ligand binding site II [chemical binding]"
                     /db_xref="CDD:341399"
     Region          325..390
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341399"
     Site            order(351,364,368..369,372,401,423..425,440)
                     /site_type="other"
                     /note="ligand binding site I [chemical binding]"
                     /db_xref="CDD:341399"
     Region          401..444
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341399"
     CDS             1..461
                     /gene="PRKAG2"
                     /gene_synonym="AAKG; AAKG2; CMH6; H91620p; WPWS"
                     /coded_by="NM_001407033.1:463..1848"
                     /note="isoform o is encoded by transcript variant 18"
                     /db_xref="GeneID:51422"
                     /db_xref="HGNC:HGNC:9386"
                     /db_xref="MIM:602743"
ORIGIN      
        1 mplldgdleg sgkhssrkvd spfgpgspsk gffsrgpqpr psspmsapvr pktspgspkt
       61 vfpfsyqesp prsprrmsfs gifrssskes spnsnpatsp ggirffsrsr ksktlmllfq
      121 aalaaalgpa eagmleklef edeavedses gvymrfmrsh kcydivptss klvvfdttlq
      181 vkkaffalva ngvraaplwe skkqsfvgml titdfinilh ryykspmvqi yeleehkiet
      241 wrelylqetf kplvnispda slfdavysli knkihrlpvi dpisgnalyi lthkrilkfl
      301 qlfmsdmpkp afmkqnldel gigtyhniaf ihpdtpiika lnifverris alpvvdesgk
      361 vvdiyskfdv inlaaektyn nlditvtqal qhrsqyfegv vkcnkleile tivdrivrae
      421 vhrlvvvnea dsivgiisls dilqaliltp agakqketet e
//
LOCUS       NP_001193876             551 aa            linear   PRI 22-JAN-2023
DEFINITION  phosphatidylinositol-binding clathrin assembly protein isoform 4
            [Homo sapiens].
ACCESSION   NP_001193876 XP_005274396
VERSION     NP_001193876.1
DBSOURCE    REFSEQ: accession NM_001206947.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 551)
  AUTHORS   Ando K, Nagaraj S, Kucukali F, de Fisenne MA, Kosa AC, Doeraene E,
            Lopez Gutierrez L, Brion JP and Leroy K.
  TITLE     PICALM and Alzheimer's Disease: An Update and Perspectives
  JOURNAL   Cells 11 (24), 3994 (2022)
   PUBMED   36552756
  REMARK    GeneRIF: PICALM and Alzheimer's Disease: An Update and
            Perspectives.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 551)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (residues 1 to 551)
  AUTHORS   Maturana-Candelas A, Gomez C, Poza J, Rodriguez-Gonzalez V, Pablo
            VG, Lopes AM, Pinto N and Hornero R.
  TITLE     Influence of PICALM and CLU risk variants on beta EEG activity in
            Alzheimer's disease patients
  JOURNAL   Sci Rep 11 (1), 20465 (2021)
   PUBMED   34650147
  REMARK    GeneRIF: Influence of PICALM and CLU risk variants on beta EEG
            activity in Alzheimer's disease patients.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 551)
  AUTHORS   Hattersley KJ, Carosi JM, Hein LK, Bensalem J and Sargeant TJ.
  TITLE     PICALM regulates cathepsin D processing and lysosomal function
  JOURNAL   Biochem Biophys Res Commun 570, 103-109 (2021)
   PUBMED   34311200
  REMARK    GeneRIF: PICALM regulates cathepsin D processing and lysosomal
            function.
REFERENCE   5  (residues 1 to 551)
  AUTHORS   Willy NM, Colombo F, Huber S, Smith AC, Norton EG, Kural C and
            Cocucci E.
  TITLE     CALM supports clathrin-coated vesicle completion upon membrane
            tension increase
  JOURNAL   Proc Natl Acad Sci U S A 118 (25) (2021)
   PUBMED   34155137
  REMARK    GeneRIF: CALM supports clathrin-coated vesicle completion upon
            membrane tension increase.
REFERENCE   6  (residues 1 to 551)
  AUTHORS   Kim JA, Kim SR, Jung YK, Woo SY, Seoh JY, Hong YS and Kim HL.
  TITLE     Properties of GST-CALM expressed in E. coli
  JOURNAL   Exp Mol Med 32 (2), 93-99 (2000)
   PUBMED   10926122
REFERENCE   7  (residues 1 to 551)
  AUTHORS   Tebar F, Bohlander SK and Sorkin A.
  TITLE     Clathrin assembly lymphoid myeloid leukemia (CALM) protein:
            localization in endocytic-coated pits, interactions with clathrin,
            and the impact of overexpression on clathrin-mediated traffic
  JOURNAL   Mol Biol Cell 10 (8), 2687-2702 (1999)
   PUBMED   10436022
REFERENCE   8  (residues 1 to 551)
  AUTHORS   Silliman CC, McGavran L, Wei Q, Miller LA, Li S and Hunger SP.
  TITLE     Alternative splicing in wild-type AF10 and CALM cDNAs and in
            AF10-CALM and CALM-AF10 fusion cDNAs produced by the
            t(10;11)(p13-14;q14-q21) suggests a potential role for truncated
            AF10 polypeptides
  JOURNAL   Leukemia 12 (9), 1404-1410 (1998)
   PUBMED   9737689
REFERENCE   9  (residues 1 to 551)
  AUTHORS   Dreyling MH, Martinez-Climent JA, Zheng M, Mao J, Rowley JD and
            Bohlander SK.
  TITLE     The t(10;11)(p13;q14) in the U937 cell line results in the fusion
            of the AF10 gene and CALM, encoding a new member of the AP-3
            clathrin assembly protein family
  JOURNAL   Proc Natl Acad Sci U S A 93 (10), 4804-4809 (1996)
   PUBMED   8643484
REFERENCE   10 (residues 1 to 551)
  AUTHORS   Ron D and Habener JF.
  TITLE     CHOP, a novel developmentally regulated nuclear protein that
            dimerizes with transcription factors C/EBP and LAP and functions as
            a dominant-negative inhibitor of gene transcription
  JOURNAL   Genes Dev 6 (3), 439-453 (1992)
   PUBMED   1547942
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC300074.1, BC073961.1,
            AK300275.1, AK128786.1 and CA415536.1.
            On Aug 31, 2013 this sequence version replaced XP_005274396.1.
            
            Summary: This gene encodes a clathrin assembly protein, which
            recruits clathrin and adaptor protein complex 2 (AP2) to cell
            membranes at sites of coated-pit formation and clathrin-vesicle
            assembly. The protein may be required to determine the amount of
            membrane to be recycled, possibly by regulating the size of the
            clathrin cage. The protein is involved in AP2-dependent
            clathrin-mediated endocytosis at the neuromuscular junction. A
            chromosomal translocation t(10;11)(p13;q14) leading to the fusion
            of this gene and the MLLT10 gene is found in acute lymphoblastic
            leukemia, acute myeloid leukemia and malignant lymphomas. The
            polymorphisms of this gene are associated with the risk of
            Alzheimer disease. Multiple alternatively spliced transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (4) has an alternate 5' exon,
            resulting in a downstream AUG start codon, and lacks an in-frame
            exon in the coding region, compared to variant 1. The resulting
            isoform (4) has a shorter N-terminus and lacks an internal segment,
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3741334.1, AK300275.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.2"
     Protein         1..551
                     /product="phosphatidylinositol-binding clathrin assembly
                     protein isoform 4"
                     /note="clathrin assembly lymphoid myeloid leukemia
                     protein"
                     /calculated_mol_wt=59787
     Region          1..231
                     /region_name="ANTH"
                     /note="ANTH domain; pfam07651"
                     /db_xref="CDD:400137"
     Region          <217..>315
                     /region_name="COG4223"
                     /note="Uncharacterized conserved protein [Function
                     unknown]"
                     /db_xref="CDD:226676"
     CDS             1..551
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /coded_by="NM_001206947.2:165..1820"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS55783.1"
                     /db_xref="GeneID:8301"
                     /db_xref="HGNC:HGNC:15514"
                     /db_xref="MIM:603025"
ORIGIN      
        1 mnvnipqlad slferttnss wvvvfkslit thhlmvygne rfiqylasrn tlfnlsnfld
       61 ksglqgydms tfirrysryl nekavsyrqv afdftkvkrg adgvmrtmnt ekllktvpii
      121 qnqmdalldf nvnsneltng vinaafmllf kdairlfaay negiinllek yfdmkknqck
      181 egldiykkfl trmtrisefl kvaeqvgidr gdipdlsqap sslldaleqh laslegkkik
      241 dstaasratt lsnavsslas tglsltkvde rekqaaleee qarlkalkeq rlkelakkph
      301 tslttaaspv stsaggimta paidifstps ssnstsklpn dlldlqqptf hpsvhpmsta
      361 sqvastwggf tpspvaqphp saglnvdfes vfgnkstnvi vdsggfdelg gllkptvasq
      421 nqnlpvaklp psklvsddld sslanlvgnl gigngttknd vnwsqpgekk ltggsnwqpk
      481 vapttawnaa tmappvmayp attptgmigy gippqmgsvp vmtqptliys qpvmrppnpf
      541 gpvsgaqiqf m
//
LOCUS       NP_005082                196 aa            linear   PRI 14-MAR-2023
DEFINITION  peptidoglycan recognition protein 1 precursor [Homo sapiens].
ACCESSION   NP_005082
VERSION     NP_005082.1
DBSOURCE    REFSEQ: accession NM_005091.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 196)
  AUTHORS   Rathnayake N, Gustafsson A, Sorsa T, Norhammar A and Bostanci N.
  CONSRTM   PAROKRANK Steering Committee
  TITLE     Association of peptidoglycan recognition protein 1 to
            post-myocardial infarction and periodontal inflammation: A subgroup
            report from the PAROKRANK (Periodontal Disease and the Relation to
            Myocardial Infarction) study
  JOURNAL   J Periodontol 93 (9), 1325-1335 (2022)
   PUBMED   35344208
  REMARK    GeneRIF: Association of peptidoglycan recognition protein 1 to
            post-myocardial infarction and periodontal inflammation: A subgroup
            report from the PAROKRANK (Periodontal Disease and the Relation to
            Myocardial Infarction) study.
REFERENCE   2  (residues 1 to 196)
  AUTHORS   Cui X, Chang Z, Dang T, Meng J, Wang P, Wu J and Chai J.
  TITLE     TNF upregulates peptidoglycan recognition protein 1 in esophageal
            cancer cells to clear the path to its signaling: Making the 'enemy'
            a friend
  JOURNAL   Arch Biochem Biophys 722, 109192 (2022)
   PUBMED   35367194
  REMARK    GeneRIF: TNF upregulates peptidoglycan recognition protein 1 in
            esophageal cancer cells to clear the path to its signaling: Making
            the ''enemy'' a friend.
REFERENCE   3  (residues 1 to 196)
  AUTHORS   Sharapova TN, Ivanova OK, Romanova EA, Sashchenko LP and Yashin DV.
  TITLE     N-Terminal Peptide of PGLYRP1/Tag7 Is a Novel Ligand for TREM-1
            Receptor
  JOURNAL   Int J Mol Sci 23 (10), 5752 (2022)
   PUBMED   35628562
  REMARK    GeneRIF: N-Terminal Peptide of PGLYRP1/Tag7 Is a Novel Ligand for
            TREM-1 Receptor.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 196)
  AUTHORS   Han Y, Hua S, Chen Y, Yang W, Zhao W, Huang F, Qiu Z, Yang C, Jiang
            J, Su X, Yang K and Jin W.
  TITLE     Circulating PGLYRP1 Levels as a Potential Biomarker for Coronary
            Artery Disease and Heart Failure
  JOURNAL   J Cardiovasc Pharmacol 77 (5), 578-585 (2021)
   PUBMED   33760799
  REMARK    GeneRIF: Circulating PGLYRP1 Levels as a Potential Biomarker for
            Coronary Artery Disease and Heart Failure.
REFERENCE   5  (residues 1 to 196)
  AUTHORS   Sharapova TN, Romanova EA, Ivanova OK, Sashchenko LP and Yashin DV.
  TITLE     Cytokines TNFalpha, IFNgamma and IL-2 Are Responsible for Signal
            Transmission from the Innate Immunity Protein Tag7 (PGLYRP1) to
            Cytotoxic Effector Lymphocytes
  JOURNAL   Cells 9 (12), 2602 (2020)
   PUBMED   33291689
  REMARK    GeneRIF: Cytokines TNFalpha, IFNgamma and IL-2 Are Responsible for
            Signal Transmission from the Innate Immunity Protein Tag7 (PGLYRP1)
            to Cytotoxic Effector Lymphocytes.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 196)
  AUTHORS   Wang ZM, Li X, Cocklin RR, Wang M, Wang M, Fukase K, Inamura S,
            Kusumoto S, Gupta D and Dziarski R.
  TITLE     Human peptidoglycan recognition protein-L is an
            N-acetylmuramoyl-L-alanine amidase
  JOURNAL   J Biol Chem 278 (49), 49044-49052 (2003)
   PUBMED   14506276
  REMARK    GeneRIF: identification as an N-acetylmuramoyl-l-alanine amidase
            and this function is conserved in prokaryotes, insects, and mammals
REFERENCE   7  (residues 1 to 196)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   8  (residues 1 to 196)
  AUTHORS   Kibardin AV, Mirkina II, Zakeeva IR, Baranova EV, Georgiev GP and
            Kiselev SL.
  TITLE     [Expression analysis of proteins encoded by genes of the tag7/tagL
            (PGRP-S,L) family in human peripheral blood cells]
  JOURNAL   Genetika 39 (2), 244-249 (2003)
   PUBMED   12669421
  REMARK    GeneRIF: Various types of human blood cells were tested for
            expression of the Tag7/PGRP-SA and TagL/PGRP-L proteins, which
            belong to the family of proteins possessing the lysozyme-like
            peptidoglycan recognition protein (PGRP) domain
REFERENCE   9  (residues 1 to 196)
  AUTHORS   Liu C, Xu Z, Gupta D and Dziarski R.
  TITLE     Peptidoglycan recognition proteins: a novel family of four human
            innate immunity pattern recognition molecules
  JOURNAL   J Biol Chem 276 (37), 34686-34694 (2001)
   PUBMED   11461926
REFERENCE   10 (residues 1 to 196)
  AUTHORS   Kang D, Liu G, Lundstrom A, Gelius E and Steiner H.
  TITLE     A peptidoglycan recognition protein in innate immunity conserved
            from insects to humans
  JOURNAL   Proc Natl Acad Sci U S A 95 (17), 10078-10082 (1998)
   PUBMED   9707603
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DN998360.1 and AF242517.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF242517.1, AY358936.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154529 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000008938.5/ ENSP00000008938.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..196
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     Protein         1..196
                     /product="peptidoglycan recognition protein 1 precursor"
                     /note="TNF superfamily, member 3 (LTB)-like (peptidoglycan
                     recognition protein)"
                     /calculated_mol_wt=19435
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2314
     Site            22
                     /site_type="pyrrolidone-carboxylic-acid"
                     /note="Pyrrolidone carboxylic acid.
                     /evidence=ECO:0000250|UniProtKB:Q8SPP7; propagated from
                     UniProtKB/Swiss-Prot (O75594.1)"
     Region          31..173
                     /region_name="PGRP"
                     /note="Animal peptidoglycan recognition proteins
                     homologous to Bacteriophage T3 lysozyme; smart00701"
                     /db_xref="CDD:128941"
     Site            order(60,95,170,176,178)
                     /site_type="active"
                     /note="amidase catalytic site [active]"
                     /db_xref="CDD:133475"
     Site            order(60,170,178)
                     /site_type="other"
                     /note="Zn binding residues [ion binding]"
                     /db_xref="CDD:133475"
     Site            order(61..62,91,95,109,116..117,123,170,174,176..178)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:133475"
     Site            112
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O75594.1)"
     CDS             1..196
                     /gene="PGLYRP1"
                     /gene_synonym="PGLYRP; PGRP; PGRP-S; PGRPS; TAG7; TNFSF3L"
                     /coded_by="NM_005091.3:33..623"
                     /db_xref="CCDS:CCDS12680.1"
                     /db_xref="GeneID:8993"
                     /db_xref="HGNC:HGNC:8904"
                     /db_xref="MIM:604963"
ORIGIN      
        1 msrrsmllaw alpsllrlga aqetedpacc spivprnewk alasecaqhl slplryvvvs
       61 htagsscntp ascqqqarnv qhyhmktlgw cdvgynflig edglvyegrg wnftgahsgh
      121 lwnpmsigis fmgnymdrvp tpqairaaqg llacgvaqga lrsnyvlkgh rdvqrtlspg
      181 nqlyhliqnw phyrsp
//
LOCUS       XP_011507455             398 aa            linear   PRI 20-MAR-2023
DEFINITION  tudor domain-containing protein 10 isoform X1 [Homo sapiens].
ACCESSION   XP_011507455
VERSION     XP_011507455.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011509153.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..398
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..398
                     /product="tudor domain-containing protein 10 isoform X1"
                     /calculated_mol_wt=44614
     Region          42..135
                     /region_name="RRM_TDRD10"
                     /note="RNA recognition motif (RRM) found in Tudor
                     domain-containing protein 10 (TDRD10) and similar
                     proteins; cd21617"
                     /db_xref="CDD:410196"
     Region          207..345
                     /region_name="Tudor_TDRD10"
                     /note="Tudor domain found in Tudor domain-containing
                     protein 10 (TDRD10) and similar proteins; cd20432"
                     /db_xref="CDD:410503"
     Site            order(287,297,313,316,318)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410503"
     CDS             1..398
                     /gene="TDRD10"
                     /coded_by="XM_011509153.3:860..2056"
                     /db_xref="GeneID:126668"
                     /db_xref="HGNC:HGNC:25316"
ORIGIN      
        1 mltpvfdrsw nishpqlsdk lfgkngvlee qkspgfkkre tevyvgnlpl diskagptcy
       61 ltvkwaeepy mwflqwsgee eilyllkdfn pldvhkiqng ckcfafvdlg smqkvtlaiq
      121 elngklfhkr klfvntskrp pkrtpdmiqq praplvleka sgegfgktaa iiqlapkapv
      181 dlceteklra affavplemr gsflvlllre cfrdlswlal ihsvrgeagl lvtsivpktp
      241 ffwamhvtea lhqnmqalfs tlaqaeeqqp ylegstvmrg trclaeyhlg dyghawnrcw
      301 vldrvdtwav vmfidfgqla tipvqslrsl dsddfwtipp ltqpfmlekd ilssyevvhr
      361 ilkgkitgal nsavtapasn lavvppllpl gclqqaaa
//
LOCUS       XP_011539250             407 aa            linear   PRI 20-MAR-2023
DEFINITION  schlafen-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_011539250
VERSION     XP_011539250.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011540948.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..407
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..407
                     /product="schlafen-like protein 1 isoform X1"
                     /calculated_mol_wt=45472
     Region          221..353
                     /region_name="AlbA_2"
                     /note="Putative DNA-binding domain; pfam04326"
                     /db_xref="CDD:427869"
     CDS             1..407
                     /gene="SLFNL1"
                     /coded_by="XM_011540948.3:843..2066"
                     /db_xref="GeneID:200172"
                     /db_xref="HGNC:HGNC:26313"
ORIGIN      
        1 mtpmkrsvqt qvsepfmesw geeslpelpa eqslteysdl eeapsahtly vghlnpqfsv
       61 pvlacllrdt lerlempvar ehievvrrpr kayalvqvtv hrdtlaslpw rlqtaleehl
      121 ilkelaargk dlllseaqgp fshreekeee eedsglspgp spgsgvplpt wpthtlpdrp
      181 qaqqlqscqg rpsgvcsdsa ivhqqivgkd qlfqgaflgs etrnmefkrg sgeylslafk
      241 hhvrryvcaf lnseggsllv gvedsglvqg ircshrdedr arllvdsilq gfkpqifpda
      301 ytltfipvis tsetsvplkv irltvhtpka qsqpqlyqtd qgevflrrdg siqgplsasa
      361 iqewcrqrwl velgkleekm kalmmekeql qqqlqqhgpv sctccvl
//
LOCUS       XP_047305300             470 aa            linear   PRI 20-MAR-2023
DEFINITION  estrogen-related receptor gamma isoform X3 [Homo sapiens].
ACCESSION   XP_047305300
VERSION     XP_047305300.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449344.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..470
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..470
                     /product="estrogen-related receptor gamma isoform X3"
                     /calculated_mol_wt=52332
     Region          127..223
                     /region_name="NR_DBD_ERR"
                     /note="DNA-binding domain of estrogen related receptors
                     (ERR) is composed of two C4-type zinc fingers; cd07170"
                     /db_xref="CDD:143544"
     Site            order(131,143..146,151..152,154..156,158..159,162,
                     182..183,186,189,203..204,207..214)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143544"
     Site            order(133,136,150,153,169,175,185,188)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143544"
     Region          249..468
                     /region_name="NR_LBD_ERR"
                     /note="The ligand binding domain of estrogen
                     receptor-related nuclear receptors; cd06946"
                     /db_xref="CDD:132744"
     Site            order(277,280,284,287,325,338,342,352..354,447,450,452)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:132744"
     Site            order(292,306,309..310,313..314,460..461,464..465)
                     /site_type="other"
                     /note="coactivator recognition site [polypeptide binding]"
                     /db_xref="CDD:132744"
     Site            388
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:132744"
     CDS             1..470
                     /gene="ESRRG"
                     /gene_synonym="ERR-gamma; ERR3; ERRg; ERRgamma; NR3B3"
                     /coded_by="XM_047449344.1:9275..10687"
                     /db_xref="GeneID:2104"
                     /db_xref="HGNC:HGNC:3474"
                     /db_xref="MIM:602969"
ORIGIN      
        1 mwrecdwglg avksdlacvp sakrllcrms nkdrhidssc ssfiktepss pasltdsvnh
       61 hspggssdas gsysstmngh qngldspply psapilggsg pvrklyddcs stivedpqtk
      121 ceymlnsmpk rlclvcgdia sgyhygvasc eackaffkrt iqgnieyscp atneceitkr
      181 rrkscqacrf mkclkvgmlk egvrldrvrg grqkykrrid aenspylnpq lvqpakkpll
      241 wsdpadnkiv shllvaepek iyampdptvp dsdikalttl cdladrelvv iigwakhipg
      301 fstlsladqm sllqsawmei lilgvvyrsl sfedelvyad dyimdedqsk laglldlnna
      361 ilqlvkkyks mklekeefvt lkaialansd smhiedveav qklqdvlhea lqdyeagqhm
      421 edprragkml mtlpllrqts tkavqhfyni klegkvpmhk lflemleakv
//
LOCUS       XP_011539899             373 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Wnt-4 isoform X1 [Homo sapiens].
ACCESSION   XP_011539899
VERSION     XP_011539899.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011541597.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..373
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..373
                     /product="protein Wnt-4 isoform X1"
                     /calculated_mol_wt=41255
     Region          65..373
                     /region_name="Wnt_Wnt4"
                     /note="Wnt domain found in protein Wnt-4 and similar
                     proteins; cd19336"
                     /db_xref="CDD:381710"
     Site            order(229..230,233..235,243,352,354,356,358)
                     /site_type="other"
                     /note="Frizzled receptor binding site [polypeptide
                     binding]"
                     /db_xref="CDD:381710"
     CDS             1..373
                     /gene="WNT4"
                     /gene_synonym="SERKAL; WNT-4"
                     /coded_by="XM_011541597.3:96..1217"
                     /db_xref="GeneID:54361"
                     /db_xref="HGNC:HGNC:12783"
                     /db_xref="MIM:603490"
ORIGIN      
        1 mtqltpappp assqgslcst qgkrnkrlpr tlpnqrgyeg edtghipryl aklssvgsis
       61 eeetceklkg liqrqvqmck rnlevmdsvr rgaqlaieec qyqfrnrrwn cstldslpvf
      121 gkvvtqgtre aafvyaissa gvafavtrac ssgelekcgc drtvhgvspq gfqwsgcsdn
      181 iaygvafsqs fvdvrerskg asssralmnl hnneagrkai lthmrveckc hgvsgscevk
      241 tcwravppfr qvghalkekf dgateveprr vgssralvpr naqfkphtde dlvylepspd
      301 fceqdmrsgv lgtrgrtcnk tskaidgcel lccgrgfhta qvelaercsc kfhwccfvkc
      361 rqcqrlvelh tcr
//
LOCUS       XP_024304917             239 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase SMYD3 isoform X5 [Homo sapiens].
ACCESSION   XP_024304917
VERSION     XP_024304917.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024449149.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..239
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..239
                     /product="histone-lysine N-methyltransferase SMYD3 isoform
                     X5"
                     /calculated_mol_wt=27428
     Region          <1..79
                     /region_name="SET"
                     /note="SET (Su(var)3-9, Enhancer-of-zeste, Trithorax)
                     domain superfamily; cl40432"
                     /db_xref="CDD:394802"
     Site            order(12..17,25..27,48..51)
                     /site_type="active"
                     /db_xref="CDD:380914"
     CDS             1..239
                     /gene="SMYD3"
                     /gene_synonym="bA74P14.1; KMT3E; ZMYND1; ZNFN3A1"
                     /coded_by="XM_024449149.2:34243..34962"
                     /db_xref="GeneID:64754"
                     /db_xref="HGNC:HGNC:15513"
                     /db_xref="MIM:608783"
ORIGIN      
        1 mqevgvglyp sisllnhscd pncsivfngp hlllravrdi evgeelticy ldmlmtseer
       61 rkqlrdqycf ecdcfrcqtq dkdadmltgd eqvwkevqes lkkieelkah wkweqvlamc
      121 qaiissnser lpdiniyqlk vldcamdaci nlglleealf ygtrtmepyr iffpgshpvr
      181 gvqvmkvgkl qlhqgmfpqa mknlrlafdi mrvthgrehs liedlillle ecdaniras
//
LOCUS       XP_047289168            1667 aa            linear   PRI 20-MAR-2023
DEFINITION  eukaryotic translation initiation factor 4 gamma 3 isoform X5 [Homo
            sapiens].
ACCESSION   XP_047289168
VERSION     XP_047289168.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433212.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1667
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1667
                     /product="eukaryotic translation initiation factor 4 gamma
                     3 isoform X5"
                     /calculated_mol_wt=185763
     Region          <65..>341
                     /region_name="PRK10263"
                     /note="DNA translocase FtsK; Provisional"
                     /db_xref="CDD:236669"
     Region          837..1065
                     /region_name="MIF4G"
                     /note="MIF4G domain; pfam02854"
                     /db_xref="CDD:397130"
     Region          1304..1416
                     /region_name="MA3"
                     /note="MA3 domain; pfam02847"
                     /db_xref="CDD:397128"
     Region          1510..1638
                     /region_name="W2_eIF4G1_like"
                     /note="C-terminal W2 domain of eukaryotic translation
                     initiation factor 4 gamma 1 and similar proteins; cd11559"
                     /db_xref="CDD:211397"
     Region          <1617..1663
                     /region_name="W2"
                     /note="C-terminal domain of eIF4-gamma/eIF5/eIF2b-epsilon;
                     cl17013"
                     /db_xref="CDD:450136"
     CDS             1..1667
                     /gene="EIF4G3"
                     /gene_synonym="eIF-4G 3; eIF4G 3; eIF4GII"
                     /coded_by="XM_047433212.1:333..5336"
                     /db_xref="GeneID:8672"
                     /db_xref="HGNC:HGNC:3298"
                     /db_xref="MIM:603929"
ORIGIN      
        1 mnsqpqtrsp psrtvpihct dnwkrrkvle qtpvyrslag rgwikycigg frpiqffqrp
       61 qiqppratip nsspsirpga qtptavyqan qhimmvnhlp mpypvpqgpq ycipqyrhsg
      121 ppyvgppqqy pvqppgpgpf ypgpgpgdfp naygtpfyps qpvyqsapii vptqqqpppa
      181 krekktirir dpnqggkdit eeimsgggsr nptppigrpt stptppqqlp sqvpehspvv
      241 ygtvesahla astpvtaasd qkqeekpkpd pvlkspspvl rlvlsgekke qegqtsetta
      301 ivsiaelplp pspttvssva rstiaaptss alssqpiftt aiddrcelss predtipips
      361 ltsctetsdp lptnendddi ckkpcsvapn diplvsstnl ineingvsek lsatesivei
      421 vkqevlpltl eleilenppe emklecipap itpstvpsfp ptpptppasp phtpvivpaa
      481 attvsspsaa itvqrvleed esirtclsed akeiqnkiev eadgqteeil dsqnlnsrrs
      541 pvpaqiaitv pktwkkpkdr trtteemlea elelkaeeel sidkvleseq dkmsqgfhpe
      601 rdpsdlkkvk aveengeeae pvrngaesvs egegidansg stdssgdgvt fpfkpeswkp
      661 tdtegkkqyd reflldfqfm paciqkpegl ppisdvvldk inqpklpmrt ldprilprgp
      721 dftpafadfg rqtpggrgvp ickvqsrhgl pileqskapt cpplvmshpp mkslplglln
      781 vgsrrsqpgq rreprkiitv svkedvhlkk aenawkpsqk rdsqaddpen iktqelfrkv
      841 rsilnkltpq mfnqlmkqvs gltvdteerl kgvidlvfek aidepsfsva yanmcrclvt
      901 lkvpmadkpg ntvnfrklll nrcqkefekd kadddvfekk qkeleaasap eertrlhdel
      961 eeakdkarrr signikfige lfklkmltea imhdcvvkll knhdeeslec lcrllttigk
     1021 dldfekakpr mdqyfnqmek ivkerktssr irfmlqdvid lrlcnwvsrr adqgpktieq
     1081 ihkeakieeq eeqrkvqqlm tkekrrpgvq rvdeggwntv qgaknsrvld pskflkitkp
     1141 tidekiqlvp kaqlgswgkg ssggakaset dalrssassl nrfsalqppa psgstpstpv
     1201 efdsrrtlts rgsmgreknd kplpsatarp ntfmrggssk dlldnqsqee qrremletvk
     1261 qltggvdver nsteaernkt resakpeisa msahdkaals eeelerksks iideflhind
     1321 fkeamqcvee lnaqgllhvf vrvgvestle rsqitrdhmg qllyqlvqse klskqdffkg
     1381 fsetleladd maidiphiwl ylaelvtpml keggismrel tiefskpllp vgragvllse
     1441 ilhllckqms hkkvgalwre adlswkdflp egedvhnfll eqkldfiesd spcssealsk
     1501 kelsaeelyk rlekliiedk andeqifdwv eanldeiqms sptflralmt avckaaiiad
     1561 sstfrvdtav ikqrvpillk yldsdtekel qalyalqasi vkldqpanll rmffdclyde
     1621 evisedafyk wesskdpaeq ngkgvalksv tafftwlrea eeesedn
//
LOCUS       XP_005270330             710 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleolar and coiled-body phosphoprotein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_005270330
VERSION     XP_005270330.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005270273.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..710
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..710
                     /product="nucleolar and coiled-body phosphoprotein 1
                     isoform X1"
                     /calculated_mol_wt=74758
     Region          635..707
                     /region_name="SRP40_C"
                     /note="SRP40, C-terminal domain; pfam05022"
                     /db_xref="CDD:428261"
     CDS             1..710
                     /gene="NOLC1"
                     /gene_synonym="NOPP130; NOPP140; NS5ATP13; P130; Srp40"
                     /coded_by="XM_005270273.3:23..2155"
                     /db_xref="GeneID:9221"
                     /db_xref="HGNC:HGNC:15608"
                     /db_xref="MIM:602394"
ORIGIN      
        1 madagirrvv psdlyplvlg flrdnqlsev ankfakatga tqqdanassl ldiysfwlnr
       61 sakvperklq angpvakkak kkasssdsed sseeeeevqg ppakkaavpa krvglppgka
      121 aakasessss eessddddee dqkkqpvqkg vkpqakaaka ppkkakssds dsdsssedep
      181 pknqkpkitp vtvkaqtkap pkparaapki angkaassss ssssssssdd seeekaaatp
      241 kkvwtitsvr aetvpkkqvv akapvkaatt ptrkssssed sssdeeeeqk kpmknkpgpy
      301 ssvpppsapp pkkslgtqpp kkavekqqpv essedssdes dssseeekkp ptkavvskat
      361 tkpppakkaa esssdssdsd sseddeapsk pagttknssn kpavttkspa vkpaaapkqp
      421 vgggqklltr kadsssseee sssseeektk kmvattkpka takaalslpa kqapqgsrds
      481 ssdsdsssse eeeektsksa vkkkpqkvag gaapskpasa kkgkaessns sssddsseee
      541 eeklkgkgsp rpqapkangt saltaqngka aknseeeeee kkkaavvvsk sgslkkrkqn
      601 eaakeaetpq akkiklqtpn tfpkrkkgek rasspfrrvr eeeievdsrv adnsfdakrg
      661 aagdwgeran qvlkftkgks frhektkkkr gsyrggsisv qvnsikfdse
//
LOCUS       XP_047281981             517 aa            linear   PRI 20-MAR-2023
DEFINITION  ectonucleoside triphosphate diphosphohydrolase 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047281981
VERSION     XP_047281981.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426025.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..517
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..517
                     /product="ectonucleoside triphosphate diphosphohydrolase 1
                     isoform X2"
                     /calculated_mol_wt=58576
     Region          47..478
                     /region_name="GDA1_CD39"
                     /note="GDA1/CD39 (nucleoside phosphatase) family;
                     pfam01150"
                     /db_xref="CDD:426082"
     Site            order(61..64,66,68,181,220..223)
                     /site_type="other"
                     /note="nucleotide binding site [chemical binding]"
                     /db_xref="CDD:212657"
     CDS             1..517
                     /gene="ENTPD1"
                     /gene_synonym="ATPDase; CD39; NTPDase-1; SPG64"
                     /coded_by="XM_047426025.1:239..1792"
                     /db_xref="GeneID:953"
                     /db_xref="HGNC:HGNC:3363"
                     /db_xref="MIM:601752"
ORIGIN      
        1 mkgtkdltsq qkesnvktfc sknilailgf ssiiaviall avgltqnkal penvkygivl
       61 dagsshtsly iykwpaeken dtgvvhqvee crvkgpgisk fvqkvneigi yltdcmerar
      121 eviprsqhqe tpvylgatag mrllrmesee ladrvldvve rslsnypfdf qgariitgqe
      181 egaygwitin yllgkfsqkt rwfsivpyet nnqetfgald lggastqvtf vpqnqtiesp
      241 dnalqfrlyg kdynvythsf lcygkdqalw qklakdiqva sneilrdpcf hpgykkvvnv
      301 sdlyktpctk rfemtlpfqq feiqgignyq qchqsilelf ntsycpysqc afngiflppl
      361 qgdfgafsaf yfvmkflnlt sekvsqekvt emmkkfcaqp weeiktsyag vkekylseyc
      421 fsgtyilsll lqgyhftads wehihfigki qgsdagwtlg ymlnltnmip aeqplstpls
      481 hstyvflmvl fslvlftvai igllifhkps yfwkdmv
//
LOCUS       XP_047283246            1241 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA2-interacting transcriptional repressor EMSY isoform X25 [Homo
            sapiens].
ACCESSION   XP_047283246
VERSION     XP_047283246.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427290.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1241
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1241
                     /product="BRCA2-interacting transcriptional repressor EMSY
                     isoform X25"
                     /calculated_mol_wt=132948
     Region          17..86
                     /region_name="ENT"
                     /note="ENT domain; pfam03735"
                     /db_xref="CDD:427473"
     Region          <886..1057
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     CDS             1..1241
                     /gene="EMSY"
                     /gene_synonym="C11orf30; GL002"
                     /coded_by="XM_047427290.1:151..3876"
                     /db_xref="GeneID:56946"
                     /db_xref="HGNC:HGNC:18071"
                     /db_xref="MIM:608574"
ORIGIN      
        1 mpvvwptlld lsrdeckril rkleleayag visalraqgd ltkekkdllg elskvlsist
       61 erhraevrra vnderlttia hnmsgpnsss ewsiegrrlv plmprlvpqt aftvtanava
      121 naaiqhnasl pvpaetgske gvscsdedek prkrrrtnss ssspvvlkev pkavvpvskt
      181 itvpvsgspk msnimqsian slpphmspvk itftkpstqt tntttqkvii vttspsstfv
      241 pnilskshny aavtklvpts viasttqkpp vvitasqssl vsnsssgsss stpspipntv
      301 avtavvsstp svvmstvaqg vstsaikmas trlpspkslv saptqilaqf pkqhqqspkq
      361 qlyqvqqqtq qqvaqpspvs hqqqpqqspl ppgikptiqi kqesgvkiit qqvqpskilp
      421 kpvtatlpts snspimvvss ngaimttklv ttptgtqaty trptvspsig rmaatpgaat
      481 yvkttsgsii tvvpkslatl ggkiissniv sgtttkitti pmtskpnviv vqkttgkgtt
      541 iqglpgknvv ttllnaggek tiqtvptgak pailtatrpi tkmivtqpkg igstvqpaak
      601 iiptkivygq qgktqvlikp kpvtfqatvv seqtrqlvte tlqqasrvae agnssiqegk
      661 eepqnytdss ssstessqss qdsqpvvhvi asrrqdwseh eiametspti iyqdvssesq
      721 satstikall elqqttvkek leskprqpti dlsqmavpiq mtqekrhspe spsiavvese
      781 lvaeyittvs hrsqpqqpsq pqrtllqhva qsqtatqtsv vvksipassp gaithimqqa
      841 lsshtaftkh seelgteege veemdtldpq tglfyrsalt qsqsakqqkl sqppleqtql
      901 qvktlqcfqt kqkqtihlqa dqlqhklpqm pqlsirhqkl tplqqeqaqp kpdvqhtqhp
      961 mvakdrqlpt lmaqppqtvv qvlavkttqq lpklqqapnq pkiyvqpqtp qsqmslpass
     1021 ekqtasqveq piitqgssvt kitfegrqpp tvtkitggss vpkltspvts ispiqasekt
     1081 avsdilkmsl meaqidtnve hmivdppkka latsmltgea gslpsthmvv agmanstpqq
     1141 qkcrescssp stvgsslttr kidppavpat gqfmriqnvg qkkaeespae iiiqvktkel
     1201 lspgyplevv fylplslqgy ssvcyslslq lqcgggaqwa s
//
LOCUS       XP_011518699             986 aa            linear   PRI 20-MAR-2023
DEFINITION  FHF complex subunit HOOK interacting protein 1B isoform X1 [Homo
            sapiens].
ACCESSION   XP_011518699
VERSION     XP_011518699.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011520397.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..986
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..986
                     /product="FHF complex subunit HOOK interacting protein 1B
                     isoform X1"
                     /calculated_mol_wt=106950
     Region          97..426
                     /region_name="RAI16-like"
                     /note="Retinoic acid induced 16-like protein; pfam10257"
                     /db_xref="CDD:370927"
     Region          449..>559
                     /region_name="KLF9_13_N-like"
                     /note="Kruppel-like factor (KLF) 9, KLF13, KLF14, KLF16,
                     and similar proteins; cl41730"
                     /db_xref="CDD:425361"
     Region          752..845
                     /region_name="DUF5917"
                     /note="Family of unknown function (DUF5917); pfam19314"
                     /db_xref="CDD:437146"
     Region          933..964
                     /region_name="KELAA"
                     /note="KELAA motif; pfam19311"
                     /db_xref="CDD:437143"
     CDS             1..986
                     /gene="FHIP1B"
                     /gene_synonym="C11orf56; FAM160A2; FHIP"
                     /coded_by="XM_011520397.3:4731..7691"
                     /db_xref="GeneID:84067"
                     /db_xref="HGNC:HGNC:25378"
                     /db_xref="MIM:620229"
ORIGIN      
        1 mermnwlsrl asrgpghrip qganlqtpvm adpetclmvf knhwsqvvri lerqgpraap
       61 ggaddlsavr nhtyqmltll aedravpsap tgpgpllefa lhedlltrvl twqlqwdelg
      121 dgveerraeq lklfemlvse arqpllrhgp vrealltlld acgrpvpssp aldeglvlll
      181 sqlcvcvaqe psllefflqp ppepgaaprl llfsrlvpfv hregtlgqqa rdallllmal
      241 sagsptvgry iadhsyfcpv latglsalys slprkievpg ddwhclrred wlgvpalalf
      301 msslefcnav iqvahplvqk qlvdyihngf lvpvmgpalh ktsveemias taylelflrs
      361 isepallrtf lrflllhrhd thtildtlva rigsnsrlcm vslslfrtll nlscedvllq
      421 lvlrylvpcn hvmlsqkpav rdvdlygraa dkflsliprc crhhapsppr pehaswargg
      481 psretgrred itgpgspsvd sssvttvprp stpsrlalfl rqqslggses pgpapcspgl
      541 saspasspgr rptpaeepge lednyleylr earrgvdrcv racrtwsapy dgerpspeps
      601 pfgsrtkkrs llpeedrnnv gegeeeelgr rgraggageg pghlpppqln gvpgswpega
      661 kkvrlvpkeg agellegise gmaglegfgq elrelevals nggtgsespl epplpleeee
      721 ayesftcppe ppgpflsspl rtlnqlpsqp ftgpfmavlf aklenmlqns vyvnflltgl
      781 vaqlachpqp llrsfllntn mvfqpsvksl lqvlgsvknk ienfaasqed fpallskakk
      841 yliargkldw aegpaagpap rrsdplvksr rpslgelllr hahsptrarq aaqlvlqpgr
      901 dgaglglsgg spgastpvll trggaperqg ealrvknavy cavifpeflk elaaisqaha
      961 vtspfllets eegsgplisg cgplnp
//
LOCUS       XP_047283723            1242 aa            linear   PRI 20-MAR-2023
DEFINITION  liprin-alpha-1 isoform X14 [Homo sapiens].
ACCESSION   XP_047283723
VERSION     XP_047283723.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427767.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 36% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1242
                     /product="liprin-alpha-1 isoform X14"
                     /calculated_mol_wt=139854
     Region          54..>433
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          246..>521
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          914..984
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat1"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     1; cd09562"
                     /db_xref="CDD:188961"
     Region          1002..1067
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat2"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     2; cd09565"
                     /db_xref="CDD:188964"
     Region          1087..1158
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat3"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     3; cd09568"
                     /db_xref="CDD:188967"
     CDS             1..1242
                     /gene="PPFIA1"
                     /gene_synonym="LIP.1; LIP1; LIPRIN"
                     /coded_by="XM_047427767.1:226..3954"
                     /db_xref="GeneID:8500"
                     /db_xref="HGNC:HGNC:9245"
                     /db_xref="MIM:611054"
ORIGIN      
        1 mmcevmptis eaegppgggg ghgsgspsqp dadshfeqlm vsmleerdrl ldtlretqet
       61 laltqgklhe vgherdslqr qlntalpqef aaltkelnvc reqllereee iaelkaernn
      121 trlllehlec lvsrherslr mtvvkrqaqs pagvssevev lkalkslfeh hkaldekvre
      181 rlrvalercs lleeelgath kelmilkeqn nqkktltdgv ldinheqent pstsgkrssd
      241 gslsheedla kvielqeiis kqsreqsqmk erlaslsshv teleedldta rkdlikseem
      301 ntklqrdvre amaqkedmee rittlekryl aaqreatsvh dlndklenei ankdsmhrqt
      361 edknrqlqer lelaeqklqq tlrkaetlpe veaelaqrva alskaeerhg nieerlrqme
      421 aqleeknqel qrarqrekmn eehnkrlsdt vdkllsesne rlqlhlkerm aaledknsll
      481 revesakkql eetqhdkdql vlniealrae ldhmrlrgas lhhgrphlgs vpdfrfpmad
      541 ghtdsystsa vlrrpqkgrl aalrdepskv qtlneqdwer aqqasvlanv aqafesdadv
      601 sdgeddrdtl lssvdllsps gqadahtlam mlqeqldain keirliqeek enteqraeei
      661 esrvgsgsld nlgrfrsmss ippypassla sssppgsgrs tprriphspa revdrlgvmt
      721 lpspdsfliq tsgphqsvvy sstsppsstp cysdssqhaq lppsreevrd dkttikcets
      781 ppsspralrl drlhkgalht vshedirdir nstgsqdgpv snpsssnssq dslhkapkkk
      841 gikssigrlf gkkekgrpgq tgkealgqag vsetdnssqd alglsklggq aeknrklqkk
      901 helleearrq glpfaqwdgp tvvvwlelwv gmpawyvaac ranvksgaim salsdteiqr
      961 eigisnplhr lklrlaiqei msltspsapp tsrtqtlayg dmnhewigne wlpslglpqy
     1021 rsyfmeclvd armldhltkk dlrgqlkmvd sfhrnsfqcg imclrrlnyd rkelerkree
     1081 sqseikdvlv wsndrvirwi lsiglkeyan nliesgvhga llaldetfdf salalllqip
     1141 tqntqaravl erefnnllvm gtdrrfdedd dksfrrapsw rkkfrpkdir glaagsaetl
     1201 panfrvtssm sspsmqpkkm qmdgnvsgtq rldsatvrty sc
//
LOCUS       XP_016874535            1162 aa            linear   PRI 20-MAR-2023
DEFINITION  protein MON2 homolog isoform X7 [Homo sapiens].
ACCESSION   XP_016874535
VERSION     XP_016874535.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019046.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1162
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1162
                     /product="protein MON2 homolog isoform X7"
                     /calculated_mol_wt=128857
     Region          <317..376
                     /region_name="DUF1981"
                     /note="Domain of unknown function (DUF1981); pfam09324"
                     /db_xref="CDD:430526"
     Region          379..1153
                     /region_name="Mon2_C"
                     /note="C-terminal region of Mon2 protein; pfam16206"
                     /db_xref="CDD:435215"
     CDS             1..1162
                     /gene="MON2"
                     /coded_by="XM_017019046.2:137..3625"
                     /db_xref="GeneID:23041"
                     /db_xref="HGNC:HGNC:29177"
                     /db_xref="MIM:616822"
ORIGIN      
        1 mpagvvfllh shsflmpdea atenilkael tmaalcgrlg lvtsrdafit aickgslpph
       61 yaltvlnttt aatlsnksys vqgqsvmmis psseshqqvv avgqplavqp qgtvmltskn
      121 iqcmrtllnl ahchgavlgt swqlvlatlq hlvwilglkp ssggalkpgr avegpstvlt
      181 tavmtdlpvi snilsrlfes sqylddvslh hlinalcsls leamdmaygn nkepslfava
      241 klletglvnm hrieilwrpl tghllekvcq hpnsrmrewg aealtslika gltfnhdppl
      301 sqnqrlqlll lnplkemsni nhpdirlkql ecvlqilqsq gdslgpgwpl vlgvmgairn
      361 dqgeslirta fqclqlvvtd flptmpctcl qivvdvagsf glhnqelnis ltsigllwni
      421 sdyffqrget iekelnkeea aqqkqaeekg vvlnrpfhpa ppfdclwlcl yaklgelcvd
      481 prpavrksag qtlfstigah gtllqhstwh tviwkvlfhl ldrvresstt adkekiesgg
      541 gnilihhsrd taekqwaetw vltlagvari fntrryllqp lgdfsrawdv lldhiqsaal
      601 sknnevslaa lksfqeilqi vspvrdsdkp etppvvnvpv pvligpisgm srpfvrtdsi
      661 geklgrysss eppivtdele dlnlwwaawn twyrigsest kppitfdklt fipsqpflta
      721 liqifpalyq hiktgfnmdd lqklgvilhs aisvpissda spfilpsyte avltslqeav
      781 ltaldvlqka icvgpenmqi mypaifdqll afvefsckpp qygqletkhi anakynqiql
      841 fapaewvaln yvpfaersle vvvdlyqkta chkavvnekv lqniiktlrv plslkyscps
      901 estwklavss llrvlsiglp varqhassgk fdsmwpelan tfedflftks ippdnlsiqe
      961 fqrnenidve vvqlisneil pyanfipkef vgqimtmlnk gsihsqsssf teaeidirlr
     1021 eefskmcfet llqfsfsnkv ttpqegyisr malsvllkrs qdvlhryied erlsgkcplp
     1081 rqqvteiifv lkavstlids lkktqpenvd gntwaqvial yptlvecitc sssevcsalk
     1141 ealvpfkdfm qppasrvqng es
//
LOCUS       XP_047285086            1591 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF21A isoform X24 [Homo sapiens].
ACCESSION   XP_047285086
VERSION     XP_047285086.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429130.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1591
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1591
                     /product="kinesin-like protein KIF21A isoform X24"
                     /calculated_mol_wt=177713
     Region          8..372
                     /region_name="KISc_KIF4"
                     /note="Kinesin motor domain, KIF4-like subfamily; cd01372"
                     /db_xref="CDD:276823"
     Site            order(17,88,91,93..96,274)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276823"
     Site            order(324,327,330)
                     /site_type="other"
                     /note="microtubule interaction site [polypeptide binding]"
                     /db_xref="CDD:276823"
     Region          <381..785
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          <644..981
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          913..994
                     /region_name="Rcc_KIF21A"
                     /note="regulatory coiled-coil domain found in kinesin-like
                     protein KIF21A; cd22263"
                     /db_xref="CDD:410204"
     Site            order(916..917,920..921,923..924,927..928,930..931,
                     934..935,937..938,941..942,944..945,948..949,952,955..956,
                     962..963,965..966,969..970,972..973,976..977,979..980,
                     983..984,986..987,990..991)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:410204"
     Region          1256..1569
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(1263,1279,1283,1289..1290,1302..1303,1321,
                     1330..1331,1344..1345,1384,1394..1395,1408,1428,1433,
                     1439..1440,1458..1459,1475,1479,1485..1486,1499..1500,
                     1517,1522,1528..1529,1541..1542,1558,1562,1568..1569)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          1307..1366
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1372..1407
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1412..1456
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1464..1497
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1504..1540
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..1591
                     /gene="KIF21A"
                     /gene_synonym="CFEOM1; FEOM1; FEOM3A"
                     /coded_by="XM_047429130.1:151..4926"
                     /db_xref="GeneID:55605"
                     /db_xref="HGNC:HGNC:19349"
                     /db_xref="MIM:608283"
ORIGIN      
        1 mlgapdessv rvavrirpql akekiegchi ctsvtpgepq vflgkdkaft fdyvfdidsq
       61 qeqiyiqcie kliegcfegy natvfaygqt gagktytmgt gfdvniveee lgiisravkh
      121 lfksieekkh iaiknglpap dfkvnaqfle lyneevldlf dttrdidaks kksnirihed
      181 stggiytvgv ttrtvntese mmqclklgal srttastqmn vqssrshaif tihvcqtrvc
      241 pqidadnatd nkiisesaqm nefetltakf hfvdlagser lkrtgatger akegisincg
      301 llalgnvisa lgdkskrath vpyrdskltr llqdslggns qtimiacvsp sdrdfmetln
      361 tlkyanrarn iknkvmvnqd rasqqinalr seitrlqmel meyktgkrii deegvesind
      421 mfhenamlqt ennnlrvrik amqetvdalr sritqlvsdq anhvlarage gneeisnmih
      481 syikeiedlr aklleseavn enlrknltra tarapyfsgs stfsptilss dketieiidl
      541 akkdleklkr kekrkkkrlq kleesnreer svagkedntd tdqekkeekg vserennele
      601 veesqevsdh edeeeeeeee eddidggess desdsesdek anyqadlani tceiaikqkl
      661 idelensqkr lqtlkkqyee klmmlqhkir dtqlerdqvl qnlgsvesys eekakkvrse
      721 yekklqamnk elqrlqaaqk eharllknqs qyekqlkklq qdvmemkktk vrlmkqmkee
      781 qekarltesr rnreiaqlkk dqrkrdvtal rrqvrpmsdk vagkvtrkls ssdapaqdtg
      841 ssaaavetda srtgaqqkmr ipvarvqalp tpatngnrkk yqrkgltgrv fisktarmkw
      901 qllerrvtdi imqkmtisnm eadmnrllkq reeltkrrek lskrrekivk engegdknva
      961 nineemeslt anidyindsi sdcqanimqm eeakeegetl dvtavinact ltearylldh
     1021 flsmginkgl qaaqkeaqik vlegrlkqte itsatqnqll fhmlkekael npeldallgh
     1081 alqdldsvpl envedstded aplnspgseg stlssdlmkl cgevkpknka rrrtttqmel
     1141 lyadsselas dtstgdaslp gpltpvaegq eigmntetsg tsarekelsp ppglpskigs
     1201 isrqsslsek kipepspvtr rkayekaeks kakeqkqgii npfpaskgir afplqcihia
     1261 eghtkavlcv dstddllftg skdrtckvwn lvtgqeimsl gghpnnvvsv kycnytslvf
     1321 tvstsyikvw dirdsakcir tltssgqvtl gdacsastsr tvaipsgenq inqialnptg
     1381 tflyaasgna vrmwdlkrfq stgkltghlg pvmcltvdqi ssgqdliitg skdhyikmfd
     1441 vtegalgtvs pthnfepphy dgiealtiqg dnlfsgsrdn gikkwdltqk dllqqvpnah
     1501 kdwvcalgvv pdhpvllsgc rggilkvwnm dtfmpvgemk ghdspinaic vnsthiftaa
     1561 ddrtvriwka rnlqdgqisd tgdlgedias n
//
LOCUS       XP_047285238             418 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA repair protein RAD52 homolog isoform X1 [Homo sapiens].
ACCESSION   XP_047285238
VERSION     XP_047285238.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429282.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..418
                     /product="DNA repair protein RAD52 homolog isoform X1"
                     /calculated_mol_wt=46038
     Region          38..199
                     /region_name="rad52"
                     /note="recombination protein rad52; TIGR00607"
                     /db_xref="CDD:129695"
     CDS             1..418
                     /gene="RAD52"
                     /coded_by="XM_047429282.1:461..1717"
                     /db_xref="GeneID:5893"
                     /db_xref="HGNC:HGNC:9824"
                     /db_xref="MIM:600392"
ORIGIN      
        1 msgteeailg grdshpaagg gsvlcfgqcq ytaeeyqaiq kalrqrlgpe yissrmaggg
       61 qkvcyieghr vinlanemfg yngwahsitq qnvdfvdlnn gkfyvgvcaf vrvqlkdgsy
      121 hedvgygvse glkskalsle karkeavtdg lkralrsfgn algncildkd ylrslnklpr
      181 qlplevdltk akrqdlepsv eearynscrp nmalghpqlq qvtspsrpsh avipadqdcs
      241 srslsssave seathqrklr qkqlqqqfre rmekqqvrvs tpsaekseaa ppappvthst
      301 pvtvseplle kdflagvtqe liktlednse kwavtpdagd gvvkpssrad paqtsdtlal
      361 nnqmvtqnrt phsvchqkpq aksgswdlqt ysadqrttgn weshrksqdm kkrkydps
//
LOCUS       XP_011519385             292 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin-associated domain-containing protein 2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_011519385
VERSION     XP_011519385.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521083.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..292
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..292
                     /product="ubiquitin-associated domain-containing protein 2
                     isoform X2"
                     /calculated_mol_wt=32628
     Region          253..290
                     /region_name="UBA_UBAC2"
                     /note="UBA domain found in ubiquitin-associated
                     domain-containing protein 2 (UBAC2) and similar proteins;
                     cd14305"
                     /db_xref="CDD:270490"
     CDS             1..292
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
                     /coded_by="XM_011521083.3:121..999"
                     /db_xref="GeneID:337867"
                     /db_xref="HGNC:HGNC:20486"
ORIGIN      
        1 mrvlssggkl gsrgegaqlc cwmllfswrv sggqqtrrlc rrafcwspvp spscspsscl
       61 tarsslcmtf tqsrttssla pvfalfvpfy csiprvqvaq ilgplsitnk tliyilglql
      121 ftsgsyiwiv aisglmsglc ydskmfqvhq vlcipswmak ffswtlepif ssseptsear
      181 igmgatldiq rqqrmelldr qlmfsqfaqg rrqrqqqggm inwnrlfppl rqrqnvnyqg
      241 grqsepaapp levseeqvar lmemgfsrgd alealrasnn dlnvatnfll qh
//
LOCUS       XP_016877888             508 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Lines homolog 1 isoform X4 [Homo sapiens].
ACCESSION   XP_016877888
VERSION     XP_016877888.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017022399.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..508
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..508
                     /product="protein Lines homolog 1 isoform X4"
                     /calculated_mol_wt=57306
     Region          1..293
                     /region_name="LINES_N"
                     /note="Lines N-terminus; pfam14694"
                     /db_xref="CDD:434134"
     Region          463..498
                     /region_name="LINES_C"
                     /note="Lines C-terminus; pfam14695"
                     /db_xref="CDD:434135"
     CDS             1..508
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /coded_by="XM_017022399.3:281..1807"
                     /db_xref="GeneID:55180"
                     /db_xref="HGNC:HGNC:30922"
                     /db_xref="MIM:610350"
ORIGIN      
        1 mcfldllell iasrihlklh ftcqrilflk pscmlevitw piqafvkrkv iiflkkcllc
       61 kvgedlcrgs vpalmppdhh vavdmlalan avlqavnsgl lktlsvyekh sffggdevqp
      121 ecelitspdh vilraaslvi mksleikfqn yssasevkvd lqrfmsellt flkphlqpsl
      181 qlhnpckwls rvfieqdddm leaakaslgi yltltrgcea tesltqgkem wdhhthengy
      241 nphciflffl knigfdstvl ldflissetc fleyfvrylk llqkdwdnff ticnnfdate
      301 skydisicgc vpslvqdqss nqtiphrlta phshrdvcar hswasdapse plkavmskga
      361 htmcasslss prasqslvdy dssddsdves teqclanskq tslhqqatke iqdaagtsrd
      421 kkefslepps rplvlkefdt afsfdcevap ndvvsevgif yrivkcfqel qdaicrlqkk
      481 nlfpynptal lkllkyievi snktmntl
//
LOCUS       XP_047292731             628 aa            linear   PRI 20-MAR-2023
DEFINITION  gametogenetin-binding protein 2 isoform X6 [Homo sapiens].
ACCESSION   XP_047292731
VERSION     XP_047292731.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436775.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..628
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..628
                     /product="gametogenetin-binding protein 2 isoform X6"
                     /calculated_mol_wt=70719
     CDS             1..628
                     /gene="GGNBP2"
                     /gene_synonym="DIF-3; DIF3; LCRG1; LZK1; ZFP403; ZNF403"
                     /coded_by="XM_047436775.1:180..2066"
                     /db_xref="GeneID:79893"
                     /db_xref="HGNC:HGNC:19357"
                     /db_xref="MIM:612275"
ORIGIN      
        1 mvmefpdnvl nldghqnnga qlkqfiqrhg mlkqqdlsia mvvtsrevls alsqlvpcvg
       61 crrsverlfs qlvesgnpal epltvgpkgv lsvtrscmtd akklytlfyv hgsklndmid
      121 aipkskknkr cqlhsldthk pkplgfctdc knkvlrayni ligeldcske kgycaalyeg
      181 lrccpherhi hvccetdfia hllgraepef aggrrerhak tidiaqeevl tclgihlyer
      241 lhriwqklra eeqtwqmlfy lgvdalrksf emtvekvqgi srleqlceef seeervrelk
      301 qekkrqkrkn rrknkcvcdi ptplqtadek evsqeketdf ienssckacg stedgntcve
      361 vivtnentsc tcpssgnllg spkikkglsp hcngsdcgys ssmegsetgs regsdvacte
      421 gicnhdehgd dscvhhcedk eddgdscvec wanseendtk gknkkkkkks kilkcdehiq
      481 klgscitdpg nretsgntmh tvfhrdktkd thpesccsse kggqplpwfe hrknvpqfae
      541 ptetlfgpds gkgakslvel ldesectsde eifisqdeiq sfmannqsfy snreqyrqhl
      601 kekfnkycrl ndhkrpicsg wlttagan
//
LOCUS       XP_011523669             462 aa            linear   PRI 20-MAR-2023
DEFINITION  forkhead box protein N1 isoform X6 [Homo sapiens].
ACCESSION   XP_011523669
VERSION     XP_011523669.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011525367.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..462
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..462
                     /product="forkhead box protein N1 isoform X6"
                     /calculated_mol_wt=49299
     Region          84..180
                     /region_name="FH_FOXN1"
                     /note="Forkhead (FH) domain found in Forkhead box protein
                     N1 (FOXN1); cd20056"
                     /db_xref="CDD:410830"
     Site            order(90,108..109,112,131..132,134..135,138,145,156..158,
                     160)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410830"
     CDS             1..462
                     /gene="FOXN1"
                     /gene_synonym="FKHL20; RONU; TIDAND; TLIND; WHN"
                     /coded_by="XM_011525367.2:574..1962"
                     /db_xref="GeneID:8456"
                     /db_xref="HGNC:HGNC:12765"
                     /db_xref="MIM:600838"
ORIGIN      
        1 mekssrdtqq gsevkvkppv lesgagmfcy qpplqhmycs sqppfhqysp gggsypipyl
       61 gsshyqyqrm apqastdghq plfpkpiysy silifmalkn sktgslpvse iynfmtehfp
      121 yfktapdgwk nsvrhnlsln kcfekvenks gsssrkgclw alnpakidkm qeelqkwkrk
      181 dpiavrksma kpeeldslig dkreklgspl lgcpppglsg sgpirplapp aglspplhsl
      241 hpapgpipgk nplqdllmgh tpscygqtyl hlspglappg ppqplfpqpd ghlelraqpg
      301 tpqdsplpah tppshsakll aepspartmh dtllpdgdlg tdldainpsl tdfdfqgnlw
      361 eqlkddslal dplvlvtssp tsssmpppqp pphcfppgpc ltetgsgagd laapgsggsg
      421 algdlhlttl ysafmelept pptapagpsv ylspsskpva la
//
LOCUS       XP_005259732             661 aa            linear   PRI 20-MAR-2023
DEFINITION  membralin isoform X1 [Homo sapiens].
ACCESSION   XP_005259732
VERSION     XP_005259732.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005259675.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..661
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..661
                     /product="membralin isoform X1"
                     /calculated_mol_wt=72005
     Region          35..408
                     /region_name="Membralin"
                     /note="tumor-associated protein; pfam09746"
                     /db_xref="CDD:430797"
     Region          <516..>661
                     /region_name="PRK14959"
                     /note="DNA polymerase III subunits gamma and tau;
                     Provisional"
                     /db_xref="CDD:184923"
     CDS             1..661
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN;
                     R32184_3"
                     /coded_by="XM_005259675.4:128..2113"
                     /db_xref="GeneID:91304"
                     /db_xref="HGNC:HGNC:17039"
                     /db_xref="MIM:611011"
ORIGIN      
        1 msehvepaap gpgpnggggg papargprtp nlnpnplinv rdrlfhalff kmavtysrlf
       61 ppafrrlfef fvllkalfvl fvlayihivf srspincleh vrdkwpregi lrvevrhnss
      121 rapvflqfcd sggrgsfpgl avepgsnldm edeeeeeltm emfgnssikv pgrpqfeldi
      181 epkvfkppss tealndsqef pfpetptkvw pqdeyiveys leygflrlsq atrqrlsipv
      241 mvvtldptrd qcfgdrfsrl lldeflgydd ilmssvkgla eneenkgflr nvvsgehyrf
      301 vsmwmartsy laafaimvif tlsvsmllry shhqifvfiv dllqmlemnm aiafpaapll
      361 tvilalvgme aimseffndt ttafyiiliv wladqydaic chtstskrhw lrffylyhfa
      421 fyayhyrfng qysslalvts wlfiqvrpgr qaggrpavpf qageaaaged alwgrpkrae
      481 hsmiyffhhy elpailqqvr iqemllqapp lgpgtptalp ddmnnnsgap atapdsagqp
      541 palgpvspga sgspgpvaaa psslvaaaas vaaaaggdlg wmaetaaiit dasflsglsa
      601 sllerrpasp lgpagglpha pqdsvppsds aasdttplga avggpspasm apteapsevg
      661 s
//
LOCUS       XP_047302411            1138 aa            linear   PRI 20-MAR-2023
DEFINITION  tubulin monoglutamylase TTLL4 isoform X4 [Homo sapiens].
ACCESSION   XP_047302411
VERSION     XP_047302411.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446455.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1138
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1138
                     /product="tubulin monoglutamylase TTLL4 isoform X4"
                     /calculated_mol_wt=127120
     Region          654..946
                     /region_name="TTL"
                     /note="Tubulin-tyrosine ligase family; pfam03133"
                     /db_xref="CDD:397308"
     CDS             1..1138
                     /gene="TTLL4"
                     /coded_by="XM_047446455.1:424..3840"
                     /db_xref="GeneID:9654"
                     /db_xref="HGNC:HGNC:28976"
                     /db_xref="MIM:618738"
ORIGIN      
        1 masagtqhys iglrqknsfk qsgpsgtvpa tppekpsegr vwpqahqqvk piwklekkqv
       61 etlsaglgpg llgvppqpay ffcpstlcss gttaviaghs sscylhslpd lfnstllyrr
      121 ssyrqkpyqq lesfclrssp sekspfslpq kslpvsltan katssmvfsm aqpmassste
      181 pylclaaage npsgkslasa isgkipspls ssykpmlnnn sfmwpnstpv pllqttqglk
      241 pvsppkiqpv swhhsggtgd capqpvdhkv pksigtvpad asahialsta sshdtsttsv
      301 asswynrnnl amraeplsca lddssdsqdp tkeirfteav rkltargfek mprqgcqleq
      361 ssflnpsfqw nvlnrsrrwk ppavnqqfpq edagsvrrvl pgasdtlgld ntvfctkris
      421 ihllashasg lnhnpacesv idssafgegk apgppfpqtl gianvatrls siqlgqseke
      481 rpeearelds sdrdissatd lqpdqaeted teeelvdgle dccsrdenee eegdsecssl
      541 savspsesva misrscmeil tkplsnhekv vrpaliyslf pnvpptiyfg trderveklp
      601 weqrkllrwk mstvtpnivk qtigrshfki skrnddwlgc wghhmkspsf rsirehqkln
      661 hfpgsfqigr kdrlwrnlsr mqsrfgkkef sffpqsfilp qdakllrkaw esssrqkwiv
      721 kppasargig iqvihkwsql pkrrpllvqr ylhkpylisg skfdlriyvy vtsydplriy
      781 lfsdglvrfa sckyspsmks lgnkfmhltn ysvnkknaey qanademacq ghkwalkalw
      841 nylsqkgvns daiwekikdv vvktiissep yvtsllkmyv rrpyschelf gfdimldenl
      901 kpwvlevnis pslhssspld isikgqmird llnlagfvlp naediissps scsssttslp
      961 tspgdkcrma pehvtaqkmk kayyltqkip dqdfyasvld vltpddvril vemedefsrr
     1021 gqferifpsh issrylrffe qpryfniltt qweqkyhgnk lkgvdllrsw cykgfhmgvv
     1081 sdsapvwslp tslltiskdd vilnafskse tsklgnpvpq rtvrtpaksp aflprryl
//
LOCUS       XP_047296597              58 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC102723553 isoform X1 [Homo sapiens].
ACCESSION   XP_047296597
VERSION     XP_047296597.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440641.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..58
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..58
                     /product="uncharacterized protein LOC102723553 isoform X1"
                     /calculated_mol_wt=6755
     Region          4..53
                     /region_name="FAM165"
                     /note="FAM165 family; pfam14981"
                     /db_xref="CDD:317404"
     CDS             1..58
                     /gene="LOC102723553"
                     /gene_synonym="SMIM11B"
                     /coded_by="XM_047440641.1:166..342"
                     /db_xref="GeneID:102723553"
ORIGIN      
        1 mnwkvlehvp lllyilaakt lilcltfagv kmyqrkrlea kqqkleaerk kqsekkdn
//
LOCUS       XP_047297168             470 aa            linear   PRI 20-MAR-2023
DEFINITION  GRAM domain-containing protein 4 isoform X9 [Homo sapiens].
ACCESSION   XP_047297168
VERSION     XP_047297168.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441212.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..470
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..470
                     /product="GRAM domain-containing protein 4 isoform X9"
                     /calculated_mol_wt=53765
     Region          352..457
                     /region_name="PH-GRAM_GRAMDC4"
                     /note="GRAM domain-containing protein 4 (GRAMDC4)
                     Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase
                     activators and Myotubularins (PH-GRAM) domain; cd13221"
                     /db_xref="CDD:270041"
     CDS             1..470
                     /gene="GRAMD4"
                     /gene_synonym="DIP"
                     /coded_by="XM_047441212.1:171..1583"
                     /db_xref="GeneID:23151"
                     /db_xref="HGNC:HGNC:29113"
                     /db_xref="MIM:613691"
ORIGIN      
        1 mlrqeldrer qrrmeleqkv qevlkartee qmaqqppkgq aqasngaerr sqglssrlqk
       61 wfyerfgeyv edfrfqpeen tveteeplsa rrltenmrrl krgakpvtnf vknlsalsdw
      121 ysvytsaiaf tvymnavwhg waiplflfla ilrlslnyli argwriqwsi vpevsepvep
      181 pkedltvsek fqlvldvaqk aqnlfgkmad ilekiknlfm wvqpeitqkl yvalwaafla
      241 scffpyrlvg lavglyagik fflidfifkr cprlrakydt pyiiwrslpt dpqlkerssa
      301 avsrrlqtts srsyvpsapa glgkeedagr fhstkkgnfh eifnltener plavcengwr
      361 cclinrdrkm ptdyirngvl yvtenylcfe ssksgsskrn kviklvditd iqkykvlsvl
      421 pgsgmgiavs tpstqkplvf gamvhrdeaf etilsqyiki tsaaasggds
//
LOCUS       XP_006713852            1078 aa            linear   PRI 20-MAR-2023
DEFINITION  extracellular calcium-sensing receptor isoform X1 [Homo sapiens].
ACCESSION   XP_006713852
VERSION     XP_006713852.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006713789.4
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 26% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1078
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1078
                     /product="extracellular calcium-sensing receptor isoform
                     X1"
                     /calculated_mol_wt=120544
     Region          33..530
                     /region_name="PBP1_CaSR"
                     /note="ligand-binding domain of the CaSR calcium-sensing
                     receptor, a member of the family C receptors within the
                     G-protein coupled receptor superfamily; cd06364"
                     /db_xref="CDD:380587"
     Site            order(50..55,104..105,108,112,152,155,159,161,172..173,
                     178..179,215,220,227,242,246,443,465)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:380587"
     Site            order(66,70,145..147,168..170,297..298)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:380587"
     Region          538..591
                     /region_name="NCD3G"
                     /note="Nine Cysteines Domain of family 3 GPCR; pfam07562"
                     /db_xref="CDD:429539"
     Region          611..862
                     /region_name="7tmC_CaSR"
                     /note="calcium-sensing receptor, member of the class C of
                     seven-transmembrane G protein-coupled receptors; cd15282"
                     /db_xref="CDD:320409"
     Region          611..636
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320409"
     Site            order(614,617..618,621..622,624..625,659,663,666..667,675,
                     679)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:320409"
     Region          648..669
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320409"
     Site            order(668,680..681,684..685,688,768,773,776..777,780,814,
                     817..818,821,825,833..834,837,840,844)
                     /site_type="other"
                     /note="putative allosteric modulator binding site
                     [chemical binding]"
                     /db_xref="CDD:320409"
     Region          678..702
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320409"
     Region          726..742
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320409"
     Region          769..795
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320409"
     Region          803..826
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320409"
     Region          831..856
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320409"
     CDS             1..1078
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /coded_by="XM_006713789.4:446..3682"
                     /db_xref="GeneID:846"
                     /db_xref="HGNC:HGNC:1514"
                     /db_xref="MIM:601199"
ORIGIN      
        1 mafysccwvl laltwhtsay gpdqraqkkg diilgglfpi hfgvaakdqd lksrpesvec
       61 irynfrgfrw lqamifaiee insspallpn ltlgyrifdt cntvskalea tlsfvaqnki
      121 dslnldefcn csehipstia vvgatgsgvs tavanllglf yipqvsyass srllsnknqf
      181 ksflrtipnd ehqatamadi ieyfrwnwvg tiaadddygr pgiekfreea eerdicidfs
      241 elisqysdee eiqhvveviq nstakvivvf ssgpdlepli keivrrnitg kiwlaseawa
      301 sssliampqy fhvvggtigf alkagqipgf reflkkvhpr ksvhngfake fweetfnchl
      361 qegakgplpv dtflrghees gdrfsnssta frplctgden issvetpyid ythlrisynv
      421 ylavysiaha lqdiytclpg rglftngsca dikkveawqv lkhlrhlnft nnmgeqvtfd
      481 ecgdlvgnys iinwhlsped gsivfkevgy ynvyakkger lfineekilw sgfsrevpfs
      541 ncsrdclagt rkgiiegept ccfecvecpd geysdetdas acnkcpddfw snenhtscia
      601 keieflswte pfgialtlfa vlgifltafv lgvfikfrnt pivkatnrel sylllfsllc
      661 cfssslffig epqdwtcrlr qpafgisfvl ciscilvktn rvllvfeaki ptsfhrkwwg
      721 lnlqfllvfl ctfmqivicv iwlytappss yrnqeledei ifitchegsl malgfligyt
      781 cllaaicfff afksrklpen fneakfitfs mliffivwis fipayastyg kfvsavevia
      841 ilaasfglla ciffnkiyii lfkpsrntie evrcstaaha fkvaaratlr rsnvsrkrss
      901 slggstgstp sssissksns edpfpqperq kqqqplaltq qeqqqqpltl pqqqrsqqqp
      961 rckqkvifgs gtvtfslsfd epqknamahr nsthqnslea qkssdtltrh epllplqcge
     1021 tdldltvqet glqgpvggdq rpevedpeel spalvvsssq sfvisgggst vtenvvns
//
LOCUS       XP_047274171            1205 aa            linear   PRI 20-MAR-2023
DEFINITION  CD109 antigen isoform X2 [Homo sapiens].
ACCESSION   XP_047274171
VERSION     XP_047274171.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418215.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1205
                     /product="CD109 antigen isoform X2"
                     /calculated_mol_wt=134909
     Region          <3..61
                     /region_name="MG3"
                     /note="Macroglobulin domain MG3; pfam17791"
                     /db_xref="CDD:436048"
     Region          228..359
                     /region_name="A2M_N_2"
                     /note="Alpha-2-macroglobulin family N-terminal region;
                     pfam07703"
                     /db_xref="CDD:429608"
     Region          453..544
                     /region_name="A2M"
                     /note="Alpha-2-macroglobulin family; pfam00207"
                     /db_xref="CDD:425525"
     Region          667..954
                     /region_name="A2M_2"
                     /note="Proteins similar to alpha2-macroglobulin (alpha
                     (2)-M). This group also contains the pregnancy zone
                     protein (PZP). Alpha(2)-M and PZP are broadly specific
                     proteinase inhibitors. Alpha (2)-M is a major carrier
                     protein in serum. The structural thioester...; cd02897"
                     /db_xref="CDD:239227"
     Site            order(681,683..684,687,727,737,740,792,794..795,938)
                     /site_type="other"
                     /note="surface patch"
                     /db_xref="CDD:239227"
     Site            681..684
                     /site_type="active"
                     /note="thioester region [active]"
                     /db_xref="CDD:239227"
     Site            order(781,785,787,795)
                     /site_type="other"
                     /note="specificity defining residues"
                     /db_xref="CDD:239227"
     Region          1069..1156
                     /region_name="A2M_recep"
                     /note="A-macroglobulin receptor; pfam07677"
                     /db_xref="CDD:429588"
     CDS             1..1205
                     /gene="CD109"
                     /gene_synonym="CPAMD7; p180; r150"
                     /coded_by="XM_047418215.1:611..4228"
                     /db_xref="GeneID:135228"
                     /db_xref="HGNC:HGNC:21685"
                     /db_xref="MIM:608859"
ORIGIN      
        1 mnskhlngti takytygkpv kgdvtltflp lsfwgkkkni tktfkingsa nfsfndeemk
       61 nvmdssngls eyldlsspgp veilttvtes vtgisrnvst nvffkqhdyi ieffdyttvl
      121 kpslnftatv kvtradgnql tleerrnnvv itvtqrnyte ywsgsnsgnq kmeavqkiny
      181 tvpqsgtfki efpiledsse lqlkayflgs kssmavhslf kspsktyiql ktrdenikvg
      241 spfelvvsgn krlkelsymv vsrgqlvavg kqnstmfslt penswtpkac vivyyieddg
      301 eiisdvlkip vqlvfknkik lywskvkaep sekvslrisv tqpdsivgiv avdksvnlmn
      361 asnditmenv vhelelyntg yylgmfmnsf avfqecglwv ltdanltkdy idgvydnaey
      421 aerfmeeneg hivdihdfsl gssphvrkhf petwiwldtn mgyriyqefe vtvpdsitsw
      481 vatgfvised lglgltttpv elqafqpffi flnlpysvir geefaleiti fnylkdatev
      541 kviieksdkf dilmtsnein atghqqtllv psedgatvlf pirpthlgei pitvtalspt
      601 asdavtqmil vkaegieksy sqsilldltd nrlqstlktl sfsfppntvt gservqitai
      661 gdvlgpsing laslirmpyg cgeqnminfa pniyildylt kkkqltdnlk ekalsfmrqg
      721 yqrellyqre dgsfsafgny dpsgstwlsa fvlrcflead pyididqnvl hrtytwlkgh
      781 qksngefwdp grvihselqg gnkspvtlta yivtsllgyr kyqpnidvqe sihflesefs
      841 rgisdnytla lityalssvg spkakealnm ltwraeqegg mqfwvssesk lsdswqprsl
      901 dievaayall shflqfqtse gipimrwlsr qrnslggfas tqdttvalka lsefaalmnt
      961 ertniqvtvt gpsspspvkf lidthnrlll qtaelavvqp tavnisangf gfaicqlnvv
     1021 ynvkasgssr rrrsiqnqea fdldvavken kddlnhvdln vctsfsgpgr sgmalmevnl
     1081 lsgfmvpsea islsetvkkv eydhgklnly ldsvnetqfc vnipavrnfk vsntqdasvs
     1141 ivdyyeprrq avrsynsevk lsscdlcsdv qgcrpcedga sgshhhssvi fifcfkllyf
     1201 melwl
//
LOCUS       XP_011513117            1033 aa            linear   PRI 20-MAR-2023
DEFINITION  SKI2 subunit of superkiller complex protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_011513117
VERSION     XP_011513117.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514815.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1033
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1033
                     /product="SKI2 subunit of superkiller complex protein
                     isoform X1"
                     /calculated_mol_wt=113923
     Region          79..201
                     /region_name="Ski2_N"
                     /note="Ski2 N-terminal region; pfam17911"
                     /db_xref="CDD:407762"
     Region          280..>995
                     /region_name="Dob10"
                     /note="Superfamily II RNA helicase [Replication,
                     recombination and repair]; COG4581"
                     /db_xref="CDD:226947"
     CDS             1..1033
                     /gene="SKIC2"
                     /gene_synonym="170A; DDX13; HLP; SKI2; SKI2W; SKIV2;
                     SKIV2L; SKIV2L1; THES2"
                     /coded_by="XM_011514815.4:19..3120"
                     /db_xref="GeneID:6499"
                     /db_xref="HGNC:HGNC:10898"
                     /db_xref="MIM:600478"
ORIGIN      
        1 mmeterlvlp ppdpldlplr avelgctghw ellnlpgape sslphglppc apdlqqeaeq
       61 lflsspawlp lhgvehsark wqrktdpwsl lavlgapvps dlqaqrhptt gqilgykevl
      121 lentnlsatt slslrrppgp asqslwgnpt qypfwpggmd eptitdlntr eeaeeeidfe
      181 kdlltippgf kkgmdfapkd cptpapglls lscmlepldl gggdedenea vgqpggprgd
      241 tvsaspcsap larassledl vlkeastavs tpeapeppsq eqwaipvdat spvgdfyrli
      301 pqpafqwafe pdvfqkqail hlerhdsvfv aahtsagktv vaeyaialaq khmtrtiyts
      361 pikalsnqkf rdfrntfgdv glltgdvqlh peasclimtt eilrsmlysg sdvirdlewv
      421 ifdevhyind vergvvweev limlpdhvsi illsatvpna lefadwigrl krrqiyvist
      481 vtrpvplehy lftgnssktq gelfllldsr gafhtkgyya aveakkerms khaqtfgakq
      541 pthqggpaqd rgvylsllas lrtraqlpvv vftfsrgrcd eqasgltsld lttsseksei
      601 hlflqrclar lrgsdrqlpq vlhmsellnr glgvhhsgil pilkeiveml fsrglvkvlf
      661 atetfamgvn mpartvvfds mrkhdgstfr dllpgeyvqm agragrrgld ptgtvillck
      721 grvpemadlh rmmmgkpsql qsqfrltytm ilnllrvdal rvedmmkrsf sefpsrkdsk
      781 aheqalaelt krlgaleepd mtgqlvdlpe yyswgeelte tqhmiqrrim esvnglksls
      841 agrvvvvknq ehhnalgvil qvssnstsrv fttlvlcdkp lsqdpqdrgp ataevpypdd
      901 lvgfklflpe gpcdhtvvkl qpgdmaaitt kvlrvngeki ledfskrqqp kfkkdpplaa
      961 vttavqellr laqahpagpp tldpvndlql kdmsvveggl rarkleeliq gaqcvhsprf
     1021 paqctpakgq geg
//
LOCUS       XP_005250753            1305 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium-dependent secretion activator 2 isoform X2 [Homo sapiens].
ACCESSION   XP_005250753
VERSION     XP_005250753.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005250696.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1305
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1305
                     /product="calcium-dependent secretion activator 2 isoform
                     X2"
                     /calculated_mol_wt=148580
     Region          366..448
                     /region_name="C2"
                     /note="Protein kinase C conserved region 2 (CalB);
                     smart00239"
                     /db_xref="CDD:214577"
     Region          481..600
                     /region_name="PH_CADPS"
                     /note="Ca2+-dependent activator protein (also called CAPS)
                     Pleckstrin homology (PH) domain; cd01234"
                     /db_xref="CDD:269940"
     Region          801..1254
                     /region_name="DUF1041"
                     /note="Domain of Unknown Function (DUF1041); pfam06292"
                     /db_xref="CDD:428871"
     CDS             1..1305
                     /gene="CADPS2"
                     /gene_synonym="CAPS2"
                     /coded_by="XM_005250696.6:124..4041"
                     /db_xref="GeneID:93664"
                     /db_xref="HGNC:HGNC:16018"
                     /db_xref="MIM:609978"
ORIGIN      
        1 mldpssseee sdegleeesr dvlvaagssq rappaptreg rrdapgragg ggaarsvsps
       61 psvlsegrde pqrqlddeqe rrirlqlyvf vvrciaypfn akqptdmarr qqklnkqqlq
      121 llkerfqafl ngetqivade afcnavrsyy evflksdrva rmvqsggcsa ndfrevfkkn
      181 iekrvrslpe idglsketvl sswiakydai yrgeedlckq pnrmalsavs elilskeqly
      241 emfqqilgik klehqllyna cqldnadeqa aqirreldgr lqladkmake rkfpkfiakd
      301 menmyieelr ssvnllmanl eslpvskggp efklqklkrs qnsafldigd eneiqlsksd
      361 vvlsftleiv imevqglksv apnrivyctm evegeklqtd qaeasrpqwg tqgdfttthp
      421 rpvvkvklft estgvlaled kelgrvilyp tsnssksael hrmvvpknsq dsdlkiklav
      481 rmdkpahmkh sgylyalgqk vwkrwkkryf vlvqvsqytf amcsyrekks epqelmqleg
      541 ytvdytdphp glqggcmffn avkegdtvif asddeqdril wvqamyratg qsykpvpaiq
      601 tqklnpkggt lhadaqlsgk dadrfqkhgm defisanpck ldhaflfril qrqtldhrln
      661 dsysclgwfs pgqvfvldey carygvrgch rhlcylaelm ehsengavid ptllhysfaf
      721 cashvhgnrp dgigtvsvee kerfeeiker lssllenqis hfrycfpfgr pegalkatls
      781 llervlmkdi atpipaeevk kvvrkcleka alinytrlte yakiegpaek etetmnqasp
      841 arkleeilhl aelcievlqq neehhaeafa wwpdllaeha ekfwalftvd mdtaleaqpq
      901 dswdsfplfq llnnflrndt llcngkfhkh lqeifvplvv ryvdlmessi aqsihrgfeq
      961 etwqpvknia nslpnvalpk vpslplnlpq ipnistaswm pslyestngs atsedlfwkl
     1021 dalqmfvfdl hwpeqefahh leqrlklmas dmleacvkrt rtafelklqk askttdlrip
     1081 asvctmfnvl vdakkqstkl caldggqefg sqwqqyhski ddlidnsvke iisllvskfv
     1141 svlegvlskl srydegtffs silsftvkaa akyvdvpkpg mdladtyimf vrqnqdilre
     1201 kvneemyiek lfdqwysssm kvicvwltdr ldlqlhiyql ktlikivkkt yrdfrlqgvl
     1261 egtlnsktyd tvhrrltvee atasvseggg lqgitmkdsd eeeeg
//
LOCUS       XP_047278907             503 aa            linear   PRI 20-MAR-2023
DEFINITION  Fanconi anemia group C protein isoform X2 [Homo sapiens].
ACCESSION   XP_047278907
VERSION     XP_047278907.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422951.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..503
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..503
                     /product="Fanconi anemia group C protein isoform X2"
                     /calculated_mol_wt=57216
     Region          10..500
                     /region_name="Fanconi_C"
                     /note="Fanconi anaemia group C protein; pfam02106"
                     /db_xref="CDD:426603"
     CDS             1..503
                     /gene="FANCC"
                     /gene_synonym="FA3; FAC; FACC"
                     /coded_by="XM_047422951.1:205..1716"
                     /db_xref="GeneID:2176"
                     /db_xref="HGNC:HGNC:3584"
                     /db_xref="MIM:613899"
ORIGIN      
        1 maqdsvdlsc dyqfwmqkls vwdqastlet qqdtclhvaq fqeflrkmye alkemdsntv
       61 ierfptigql lakacwnpfi laydesqkil iwclcclink epqnsgqskl nswiqgvlsh
      121 ilsalrfdke valftqglgy apidyypgll knmvlslase lrenhlngfn tqrrkkislp
      181 msavvclwlr hlpslekaml hlfeklisse rnclrriecf ikdsslpqaa chpaifrvvd
      241 emfrcallet dgaleiiati qvftqcfvea lekaskqlrf alktyfpyts pslamvllqd
      301 pqdiprghwl qtlkhisell reavedqthg scggpfeswf lfihfggwae mvaeqllmsa
      361 aepptallwl lafyygprdg rqqraqtmvq vkavlghlla msrssslsaq dlqtvagqgt
      421 dtdlrapaqq lirhlllnfl lwapgghtia wdvitlmaht aeitheiigf ldqtlyrwnr
      481 lgiesprsek larellkelr tqv
//
LOCUS       XP_011516941             391 aa            linear   PRI 20-MAR-2023
DEFINITION  protein prenyltransferase alpha subunit repeat-containing protein 1
            isoform X1 [Homo sapiens].
ACCESSION   XP_011516941
VERSION     XP_011516941.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011518639.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..391
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..391
                     /product="protein prenyltransferase alpha subunit
                     repeat-containing protein 1 isoform X1"
                     /calculated_mol_wt=44764
     Region          83..>283
                     /region_name="BET4"
                     /note="Protein prenyltransferase, alpha subunit
                     [Posttranslational modification, protein turnover,
                     chaperones]; COG5536"
                     /db_xref="CDD:227823"
     Region          139..170
                     /region_name="PPTA"
                     /note="Protein prenyltransferase alpha subunit repeat;
                     pfam01239"
                     /db_xref="CDD:426146"
     CDS             1..391
                     /gene="PTAR1"
                     /coded_by="XM_011518639.2:74..1249"
                     /db_xref="GeneID:375743"
                     /db_xref="HGNC:HGNC:30449"
ORIGIN      
        1 maetseevav lvqrvvkdit nafrrnphii drchmypaas kprlyhcmer ehcssickmr
       61 knqqrrllgr kelilsgtln pikdlhlgkl altkfpkspe twihrrwvlq qliqetslps
      121 fvtkgnlgti pteraqrliq eemevcgeaa grypsnynaw shriwvlqhl akldvkilld
      181 elsstkhwas mhvsdhsgfh yrqfllksli sqtvidssvm eqnplrsepa lvppkdeeaa
      241 vsteeprinl phlleeevef stdlidsypg hetlwchrrh ifylqhhlng rfphsmtqls
      301 padspggtls dlhlipagsq lsqamevdgl ndsskqgysq etkrlkrtpv pdslglemeh
      361 rfidqvlstc rnveqarfas ayrkwlvtls q
//
LOCUS       XP_011544681              95 aa            linear   PRI 20-MAR-2023
DEFINITION  ADP-ribosylation factor-like protein 17 isoform X8 [Homo sapiens].
ACCESSION   XP_011544681
VERSION     XP_011544681.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011546379.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167251.2) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..95
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31-21.32"
     Protein         1..95
                     /product="ADP-ribosylation factor-like protein 17 isoform
                     X8"
                     /calculated_mol_wt=10614
     Region          1..>86
                     /region_name="Cas3_I"
                     /note="CRISPR/Cas system-associated protein Cas3; cl41983"
                     /db_xref="CDD:455328"
     CDS             1..95
                     /gene="LOC107984156"
                     /coded_by="XM_011546379.3:211..498"
                     /db_xref="GeneID:107984156"
ORIGIN      
        1 mgnifeklfk sllgkkkmri lilsldtagk ttilyklklg etvpavptvg fcvetveykn
       61 ntfgvwdvgs hfkirplwqh ffqntkaahs qslts
//
LOCUS       XP_054186076            1105 aa            linear   PRI 20-MAR-2023
DEFINITION  KAT8 regulatory NSL complex subunit 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054186076
VERSION     XP_054186076.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330101.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187663.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1105
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31-21.32"
     Protein         1..1105
                     /product="KAT8 regulatory NSL complex subunit 1 isoform
                     X1"
                     /calculated_mol_wt=120851
     CDS             1..1105
                     /gene="KANSL1"
                     /gene_synonym="CENP-36; hMSL1v1; KDVS; KIAA1267; MSL1v1;
                     NSL1"
                     /coded_by="XM_054330101.1:308..3625"
                     /db_xref="GeneID:284058"
                     /db_xref="HGNC:HGNC:24565"
                     /db_xref="MIM:612452"
ORIGIN      
        1 maamapaltd aaaeahhirf klappsstls pgsaenngna niliaangtk rkaiaaedps
       61 ldfrnnptke dlgklqplva sylcsdvtsv pskeslklqg vfskqtvlks hpllsqsyel
      121 raellgrqpv lefslenlrt mntsgqtalp qapvnglakk ltkssthsdh dnstslnggk
      181 raltssalhg gemggsesgd lkggmtnctl phrsldveht tlysnnstan kssvnsmeqp
      241 alqgssrlsp gtdsssnlgg vklegkkspl ssilfsalds dtritallrr qadiesrarr
      301 lqkrlqvvqa kqverhiqhq lggflektls klpnleslrp rsqlmltrka eaalrkaase
      361 tttseglsnf lksnsiseel erftasgian lrcseqafds dvtdsssgge sdieeeeltr
      421 adpeqrhvpl rrrsewkwaa draaivsrwn wlqahvsdle yrirqqtdiy kqirankgli
      481 vlgevpppeh ttdlflplss evktdhgtdk liesvsqple nhgapiighi seslstkscg
      541 alrpvngvin tlqpvladhi pgdssdaeeq lhkkqrlnlv ssssdgtcva artrpvlsck
      601 krrlvrpnsi vplskkvhrn stirpgcdvn pscalcgsgs intmppeihy eapllerlsq
      661 ldscvhpvla fpddvptslh fqsmlksqwq nkpfdkikpp kklslkhrap mpgslpdsar
      721 kdrhklvssf lttaklshhq trpdrthrqh lddvgavpmv ervtapkaer llnppppvhd
      781 pnhskmrlrd hssersevlk hhtdmssssy laathhpphs plvrqlstss dspapassss
      841 qvtastsqqp vrrrrgessf dinnivipms vaattrvekl qykeiltpsw revdlqslkg
      901 spdeeneeie dlsdaafaal hakceemera rwlwttsvpp qrrgsrsyrs sdgrttpqlg
      961 sanpstpqpa spdvssshsl seyshgqspr spispelhsa pltpvardtl rhlasedtrc
     1021 stpelgldeq svqpwerrtf plahspqaec edqldaqera arctrrtsgs ktgreteaap
     1081 tsppivplks rhlvaaataq rpthr
//
LOCUS       XP_054186425             107 aa            linear   PRI 20-MAR-2023
DEFINITION  essential MCU regulator, mitochondrial isoform X1 [Homo sapiens].
ACCESSION   XP_054186425
VERSION     XP_054186425.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330450.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187682.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..107
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     Protein         1..107
                     /product="essential MCU regulator, mitochondrial isoform
                     X1"
                     /calculated_mol_wt=11310
     CDS             1..107
                     /gene="SMDT1"
                     /gene_synonym="C22orf32; DDDD; EMRE"
                     /coded_by="XM_054330450.1:70..393"
                     /db_xref="GeneID:91689"
                     /db_xref="HGNC:HGNC:25055"
                     /db_xref="MIM:615588"
ORIGIN      
        1 masgaarwlv lapvrsgalr sgpslrkdgd vsaawsgsgr slvpsrsviv trsgailpkp
       61 vkmsfgllrv fsivipflyv gtlisknfaa lleehdifvp edddddd
//
LOCUS       XP_054193490             320 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 22 member 15 isoform X10 [Homo sapiens].
ACCESSION   XP_054193490
VERSION     XP_054193490.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337515.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..320
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..320
                     /product="solute carrier family 22 member 15 isoform X10"
                     /calculated_mol_wt=35434
     CDS             1..320
                     /gene="SLC22A15"
                     /gene_synonym="FLIPT1; PRO34686"
                     /coded_by="XM_054337515.1:116..1078"
                     /db_xref="GeneID:55356"
                     /db_xref="HGNC:HGNC:20301"
                     /db_xref="MIM:608275"
ORIGIN      
        1 meveeafqav gemgiyqmyl cfllavllql yvateailia lvgatpsyhw dlaellpnqs
       61 hgnqsagedq afgdwlltan gseihkhvhf sssftsiase wflianrsyk vsaassfffs
      121 gvfvgvisfg qlsdrfgrkk vyltgfaldi lfaiangfsp syeffavtrf lvgmmnggms
      181 lvafvllnec vgtaywalag sigglffavg iaqyallgyf irswrtlail vnlqgtvvfl
      241 lslfipespr wlysqgrlse aeealyliak rnrklkctfs lthpanrscr etgsfldlfr
      301 yrvllghtli lmfickspdp
//
LOCUS       XP_054194384             344 aa            linear   PRI 20-MAR-2023
DEFINITION  NAD kinase isoform X2 [Homo sapiens].
ACCESSION   XP_054194384
VERSION     XP_054194384.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338409.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..344
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..344
                     /product="NAD kinase isoform X2"
                     /calculated_mol_wt=37324
     CDS             1..344
                     /gene="NADK"
                     /gene_synonym="dJ283E3.1"
                     /coded_by="XM_054338409.1:152..1186"
                     /db_xref="GeneID:65220"
                     /db_xref="HGNC:HGNC:29831"
                     /db_xref="MIM:611616"
ORIGIN      
        1 mpgdhfwtkg lcaaeppdhh ahsgprepaa dveqvpkerp chqedercqp taavqgalha
       61 phgdyddisn qidfiiclgg dgtllyassl fqgsvppvma fhlgslgflt pfsfenfqsq
      121 vtqviegnaa vvlrsrlkvr vvkelrgkkt avhnglgeng sqaagldmdv gkqamqyqvl
      181 nevvidrgps sylsnvdvyl dghlittvqg dgvivstptg stayaaaaga smihpnvpai
      241 mitpicphsl sfrpivvpag velkimlspe arntawvsfd grkrqeirhg dsisittscy
      301 plpsicvrdp vsdwfeslaq clhwnvrkkq ahfeeeeeee eeeg
//
LOCUS       XP_054195162             282 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-CoA-binding domain-containing protein 6 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054195162
VERSION     XP_054195162.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339187.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..282
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..282
                     /product="acyl-CoA-binding domain-containing protein 6
                     isoform X1"
                     /calculated_mol_wt=31020
     CDS             1..282
                     /gene="ACBD6"
                     /coded_by="XM_054339187.1:312..1160"
                     /db_xref="GeneID:84320"
                     /db_xref="HGNC:HGNC:23339"
                     /db_xref="MIM:616352"
ORIGIN      
        1 massflpaga itgdsggels sgddsgevef phspeieets claelfekaa ahlqgliqva
       61 sreqllylya rykqvkvgnc ntpkpsffdf egkqkweawk algdsspsqa mqeyiavvkk
      121 ldpgwnpqip ekkgkeantg fggpvissly heetireedk nifdycrenn idhitkaiks
      181 knvdvnvkde egrallhwac drghkelvtv llqhradinc qdnegqtalh yasacefldi
      241 velllqsgad ptlrdqdgcl peevtgcktv slvlqrhttg ka
//
LOCUS       XP_054195910             279 aa            linear   PRI 20-MAR-2023
DEFINITION  rab GTPase-activating protein 1-like isoform X7 [Homo sapiens].
ACCESSION   XP_054195910
VERSION     XP_054195910.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339935.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..279
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..279
                     /product="rab GTPase-activating protein 1-like isoform X7"
                     /calculated_mol_wt=32154
     CDS             1..279
                     /gene="RABGAP1L"
                     /gene_synonym="HHL; TBC1D18"
                     /coded_by="XM_054339935.1:144..983"
                     /db_xref="GeneID:9910"
                     /db_xref="HGNC:HGNC:24663"
                     /db_xref="MIM:609238"
ORIGIN      
        1 meqacnikvp tkklkkyeke yqtmresqlq qedpmdrykr enrrlqeasm rleqenddla
       61 helvtskial rndldqaedk advlnkelll tkqrlvetee ekrkqeeeta qlkevfrkql
      121 ekaeyeikkt taiiaeykqi csqlstrlek qqaaskeele vvkgkmmack hcsdifskeg
      181 alklaatgre dqgietddek dslkkqlrem elelaqtklq lveakckiqe lehqrgalmn
      241 eiqaaknswf sktlnsikta tgtqplqpap vtqppkest
//
LOCUS       XP_054222363             579 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 248 isoform X1 [Homo sapiens].
ACCESSION   XP_054222363
VERSION     XP_054222363.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366388.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..579
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..579
                     /product="zinc finger protein 248 isoform X1"
                     /calculated_mol_wt=66956
     CDS             1..579
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
                     /coded_by="XM_054366388.1:649..2388"
                     /db_xref="GeneID:57209"
                     /db_xref="HGNC:HGNC:13041"
ORIGIN      
        1 mnksqeqvsf kdvcvdftqe ewylldpaqk ilyrdvilen ysnlvsvgyc itkpevifki
       61 eqgeepwile kgfpsqchpe rkwkvddvle ssqeneddhf wellfhnnkt vsvengdrgs
      121 ktfnlgtdpv slrnypykic dscemnlkni sgliiskknc srkkpdefnv cekllldirh
      181 ekipigeksy kydqkrnain yhqdlsqpsf gqsfeyskng qgfhdeaaff tnkrsqiget
      241 vckynecgrt fieslklnis qrphlemepy gcsicgksfc mnlrfghqra ltkdnpyeyn
      301 eygeifcdns afiihqgayt rkilreykvs dktweksall khqivhmggk sydynengsn
      361 fskkshltql rrahtgektf ecgecgktfw eksnltqhqr thtgekpyec tecgkafcqk
      421 phltnhqrth tgekpyeckq cgktfcvksn ltehqrthtg ekpyecnacg ksfchrsalt
      481 vhqrthtgek pficnecgks fcvksnlivh qrthtgekpy kcnecgktfc eksaltkhqr
      541 thtgekpyec nacgktfsqr svltkhqrih trvkalsts
//
LOCUS       XP_054226457             450 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium- and chloride-dependent glycine transporter 2 isoform X2
            [Homo sapiens].
ACCESSION   XP_054226457
VERSION     XP_054226457.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370482.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..450
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..450
                     /product="sodium- and chloride-dependent glycine
                     transporter 2 isoform X2"
                     /calculated_mol_wt=50769
     CDS             1..450
                     /gene="SLC6A5"
                     /gene_synonym="GLYT-2; GLYT2; HKPX3; NET1"
                     /coded_by="XM_054370482.1:239..1591"
                     /db_xref="GeneID:9152"
                     /db_xref="HGNC:HGNC:11051"
                     /db_xref="MIM:604159"
ORIGIN      
        1 mtaypnvtmv nftsqanktf vsgseeyfky fvlkisagie ypgeirwpla lclflawviv
       61 yaslakgikt sgkvvyftat fpyvvlvill irgvtlpgag agiwyfitpn wekltnatvw
      121 kdaatqiffs lsaawgglit lssynkfhnn cyrdtlivtc tnsatsifag fvifsvigfm
      181 anerkvnien vadqgpgiaf vvypealtrl plspfwaiif flmlltlgld tmfatietiv
      241 tsisdefpky lrthkpvftl gccicffimg fpmitqggiy mfqlvdtyaa syalviiaif
      301 elvgisyvyg lqrfcediem migfqpnifw kvcwafvtpt iltfilcfsf yqwepmtygs
      361 yrypnwsmvl gwlmlacsvi wipimfvikm hlapgrfier lklvcspqpd wgpflaqhrg
      421 eryknmidpl gtsslglklp vkdlelgtqc
//
LOCUS       XP_054233335            1151 aa            linear   PRI 20-MAR-2023
DEFINITION  tau-tubulin kinase 2 isoform X5 [Homo sapiens].
ACCESSION   XP_054233335
VERSION     XP_054233335.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377360.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1151
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1151
                     /product="tau-tubulin kinase 2 isoform X5"
                     /calculated_mol_wt=126951
     CDS             1..1151
                     /gene="TTBK2"
                     /gene_synonym="SCA11; TTBK"
                     /coded_by="XM_054377360.1:85..3540"
                     /db_xref="GeneID:146057"
                     /db_xref="HGNC:HGNC:19141"
                     /db_xref="MIM:611695"
ORIGIN      
        1 mqlqgrnlad lrrsqsrgtf tisttlrlgr qilesiesih svgflhrdik psnfamgrfp
       61 stcrkcymld fglarqftns cgdvrpprav agfrgtvrya sinahrnrem grhddlwslf
      121 ymlvefvvgq lpwrkikdke qvgsikeryd hrlmlkhlpp efsifldhis sldyftkpdy
      181 qlltsvfdns iktfgviesd pfdwektgnd gsltttttst tpqlhtrltp aaigianatp
      241 ipgdllrent devfpdeqls dgengipvgv spdklpgslg hprpqekdvw eemdanknki
      301 klgickaate eenshgqang llnapslgsp irvrseitqp drdiplvrkl rsihsfelek
      361 rltlepkpdt dkfletclek mqkdtsagke silpallhkp cvpavsrtdh iwhydeeylp
      421 daskpasant peqadgggsn gfiavnlssc kqeidskewv ivdkeqdlqd frtneavghk
      481 ttgspsdeep evlqvleasp qdeklqlgpw aendhlkket sgvvlalsae gpptaaseqy
      541 tdrlelqpga asqfiaatpt slmeaqaegp ltaitiprps vastqstsgs fhcgqqpekk
      601 dlqpmeptve lysprenfsg lvvtegepps ggsrtdlglq idhighdmlp niresnksqd
      661 lgpkelpdhn rlvvrefenl pgeteeksil lesdnedekl srgqhcieis slpgdlvive
      721 kdhsattepl dvtktqtfsv vpnqdknnei mklltvgtse issrdidphv egqigqvaem
      781 qknkiskddd imsedlpghq gdlstflhqe gkrekitprn gelfhcvsen ehgaptrkdm
      841 vrssfvtrhs ripvlaqeid stlessspvs akekllqkka yqpdlvkllv ekrqfksflg
      901 dlssasdkll eeklatvpap fceeevltpf srltvdshls rsaedsflsp iisqsrkski
      961 prpvswvntd qvnsstssqf fprpppgkpp trpgvearlr rykvlgssns dsdlfsrlaq
     1021 ilqngsqkpr sttqckspgs phnpktppks pvvprrspsa sprssslprt sssspsragr
     1081 phhdqrsssp hlgrskspps hsgssssrrs cqqehckpsk nglkgsgslh hhsastktpq
     1141 gkskpaskls r
//
LOCUS       XP_054234053             846 aa            linear   PRI 20-MAR-2023
DEFINITION  P protein isoform X3 [Homo sapiens].
ACCESSION   XP_054234053
VERSION     XP_054234053.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378078.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..846
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..846
                     /product="P protein isoform X3"
                     /calculated_mol_wt=93838
     CDS             1..846
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /coded_by="XM_054378078.1:10269..12809"
                     /db_xref="GeneID:4948"
                     /db_xref="HGNC:HGNC:8101"
                     /db_xref="MIM:611409"
ORIGIN      
        1 mredwqwsmh legrdgrryp gapavellqt svpsglaelv agkrrlprga ggadpshscp
       61 rgaagqsswa pagqefasfl tkgrshsslp qmsssrskds cftentpllr nslqekgsrc
      121 ipvyhpefit aeeswedssa dwerryllsr evsglsasas sekgdlldsp hirlrlsklr
      181 rcvqwlkvmg lfafvvlcsi lfslypdqgk lwqllalspl enysvnlssh vdstllqvdl
      241 agalvasgps rpgreehivv eltqadalgs rwrrpqqvth nwtvylnprr sehsvmsrtf
      301 evltretvsi siraslqqtq avpllmahqy lrgsvetqvt iatailagvy aliifeivhr
      361 tlaamlgsla alaalavigd rpslthvvew idfetlallf gmmilvaifs etgffdycav
      421 kayrlsrgrv wamiimlcli aavlsafldn vttmllftpv tirlcevlnl dprqvliaev
      481 iftniggaat aigdppnvii vsnqelrkmg ldfagftahm figiclvllv cfpllrllyw
      541 nrklynkeps eivelkheih vwrltaqris pasreetavr rlllgkvlal ehllarrlht
      601 fhrqisqedk nwetniqelq kkhrisdgil lakcltvlgf vifmfflnsf vpgihldlgw
      661 iailgaiwll iladihdfei ilhrvewatl lffaalfvlm ealahlhlie yvgeqtalli
      721 kmvpeeqrli aaivlvvwvs alasslidni pftatmipvl lnlshdpevg lpapplmyal
      781 afgaclggng tligasanvv cagiaeqhgy gfsfmeffrl gfpmmvvsct vgmcyllvah
      841 vvvgwn
//
LOCUS       XP_054234306             310 aa            linear   PRI 20-MAR-2023
DEFINITION  protein mono-ADP-ribosyltransferase PARP16 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054234306
VERSION     XP_054234306.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378331.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..310
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..310
                     /product="protein mono-ADP-ribosyltransferase PARP16
                     isoform X2"
                     /calculated_mol_wt=34747
     CDS             1..310
                     /gene="PARP16"
                     /gene_synonym="ARTD15; C15orf30; pART15"
                     /coded_by="XM_054378331.1:458..1390"
                     /db_xref="GeneID:54956"
                     /db_xref="HGNC:HGNC:26040"
ORIGIN      
        1 mqpsgwaaar eaagrdmlaa dlrcslfasa lqsykrdsvl rpfpasyarg dckdfealla
       61 dasklpnlke llqssgdnhk rawdlvswil sskvltihsa gkaefekiqk ltgaphtpvp
      121 apdflfeiey fdpanakfye tkgerdliya fhgsrlenfh siihnglhch lnktslfgeg
      181 tyltsdlsla liysphghgw qhsllgpils cvavcevidh pdvkcqtkkk dskeidrrra
      241 rikhseggdi ppkyfvvtnn qllrvkyllv ysqkppkras sqlswfsshw ftvmislyll
      301 lllidppaml
//
LOCUS       XP_054171670             216 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat and SOCS box-containing protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054171670
VERSION     XP_054171670.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315695.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..216
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..216
                     /product="WD repeat and SOCS box-containing protein 1
                     isoform X1"
                     /calculated_mol_wt=24164
     CDS             1..216
                     /gene="WSB1"
                     /gene_synonym="SWIP1; WSB-1"
                     /coded_by="XM_054315695.1:1020..1670"
                     /db_xref="GeneID:26118"
                     /db_xref="HGNC:HGNC:19221"
                     /db_xref="MIM:610091"
ORIGIN      
        1 mmkvlrghqn wvyscafspd ssmlcsvgas kavflwnmdk ytmirklegh hhdvvacdfs
       61 pdgallatas ydtrvyiwdp hngdilmefg hlfppptpif aggandrwvr svsfshdglh
      121 vasladdkmv rfwridedyp vqvaplsngl ccafstdgsv laagthdgsv yfwatprqvp
      181 slqhlcrmsi rrvmptqevq elpipsklle flsyri
//
LOCUS       XP_054172270             316 aa            linear   PRI 20-MAR-2023
DEFINITION  P2X purinoceptor 1 isoform X7 [Homo sapiens].
ACCESSION   XP_054172270
VERSION     XP_054172270.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316295.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..316
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..316
                     /product="P2X purinoceptor 1 isoform X7"
                     /calculated_mol_wt=33714
     CDS             1..316
                     /gene="P2RX1"
                     /gene_synonym="P2X1"
                     /coded_by="XM_054316295.1:974..1924"
                     /db_xref="GeneID:5023"
                     /db_xref="HGNC:HGNC:8533"
                     /db_xref="MIM:600845"
ORIGIN      
        1 msgggqrlvl vpgmivpfwa spdlshrags aeseaawdap avwlsreprq awqrlahlwv
       61 flyekgyqts sglissvsvk lkglavtqlp glgpqvwdva dyvfpaqgdn sfvvmtnfiv
      121 tpkqtqgyca ehpeggicke dsgctpgkak rkaqgirtgk cvafndtvkt ceifgwcpve
      181 vdddiprlki plgpgharah pplhqpraag gsrrlgpppa vpssvwdtqg aswggavsac
      241 gvlqpcpspr grelhsfhqe qhqlstlqgq qaqpggggec cphedlplsq dpappvpslp
      301 awlrgarvrp elqhpg
//
LOCUS       XP_054174313            2062 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 12 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054174313
VERSION     XP_054174313.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318338.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2062
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2062
                     /product="ankyrin repeat domain-containing protein 12
                     isoform X1"
                     /calculated_mol_wt=235550
     CDS             1..2062
                     /gene="ANKRD12"
                     /gene_synonym="ANCO-2; ANCO1; GAC-1; Nbla00144"
                     /coded_by="XM_054318338.1:127..6315"
                     /db_xref="GeneID:23253"
                     /db_xref="HGNC:HGNC:29135"
                     /db_xref="MIM:610616"
ORIGIN      
        1 mpksgftkpi qsensdsdsn mvekpygrks kdkiasyskt pkiersdvsk emkekssmkr
       61 klpftispsr neerdsdtds dpghtsenwg erlissyrty sekegpekkk tkkeagnkks
      121 tpvsilfgyp lserkqmall mqmtardnsp dstpnhpsqt tpaqkktpss ssrqkdkvnk
      181 rnergetplh maairgdvkq vkelislgan vnvkdfagwt plheacnvgy ydvakiliaa
      241 gadvntqgld ddtplhdsas sghrdivkll lrhggnpfqa nkhgerpvdv aeteelelll
      301 krevplsddd esytdseeaq svnpssvden idsetekdsl iceskqilps ktplpsalde
      361 yefkddddee inkmiddrhi lrkeqrkene peaekthlfa kqekafypks fkskkqkpsr
      421 vlysstessd eealqnkkis tscsvipets nsdmqtkkey vvsgehkqkg kvkrklknqn
      481 knkenqelkq ekegkentri tnltvntgld csektreegn frksfspkdd tslhlfhist
      541 gkspkhscgl sekqstplkq ehtktclspg ssemslqpdl vrydntesef lpesssvksc
      601 khkekskhqk dfhlefgeks nakikdedhs ptfensdctl kkmdkegktl kkhklkhker
      661 ekekhkkeie gekekyktkd sakelqrsve fdrefwkenf fksdetedlf lnmehesltl
      721 ekksklekni kddkstkekh vskernfkee rdkikkesek sfreekikdl keereniptd
      781 kdseftslgm saieesiglh lvekeidiek qekhikeske kpekrsqike kdiekmerkt
      841 fekekkikhe hksekdkldl secvdkikek dklyshhtek chkegekskn taaikktddr
      901 eksrermdrk hdkekpeker hlaeskekhl mekknkqsdn seysksekgk nkekdreldk
      961 keksrdkesi nitnskhiqe ekkssivdgn kaqhekplsl kektkdeplk tpdgkekdkk
     1021 dkdidryker dkhkdkiqin sllklksead kpkpksspas kdtrpkekrl vnddlmqtsf
     1081 ermlslkdle ieqwhkkhke kikqkekerl rnrnclelki kdkektkhtp tesknkeltr
     1141 skssevtday tkekqpkdav snrsqsvdtk nvmtlgkssf vsdnslnrsp rsenekpgls
     1201 srsvsmisva ssedschttv ttprppveyd sdfmlesses qmsfsqspfl siakspalhe
     1261 reldsladlp erikppyanr lstshlrsss vedvkliise grptievrrc smpsviceht
     1321 kqfqtisees nqgslltvpg dtspspkpev fsnvperdls nvsnihssfa tsptgasnsk
     1381 yvsadrnlik ntapvntvmd spvhlepssq vgviqnkswe mpvdrletls trdficpnsn
     1441 ipdqesslqs fcnsenkvlk enadflslrq telpgnscaq dpasfmppqq pcsfpsqsls
     1501 daesiskhms lsyvanqepg ilqqknavqi issaldtdne stkdtentfv lgdvqktdaf
     1561 vpvysdstiq easpnfekay tlpvlpsekd fngsdastql nthyafsklt yksssgheve
     1621 nsttdtqvis hekenklesl vlthlsrcds dlcemnagmp kgnlneqdpk hcpesekcll
     1681 siedeesqqs ilsslenhsq qstqpemhky gqlvkvelee naeddktenq ipqrmtrnka
     1741 ntmanqskqi lasctllsek dsesssprgr irltedddpq ihhprkrkvs rvpqpvqvsp
     1801 sllqakektq qslaaivdsl kldeiqpyss eranpyfeyl hirkkieekr kllcsvipqa
     1861 pqyydeyvtf ngsylldgnp lskiciptit pppslsdplk elfrqqevvr mklrlqhsie
     1921 reklivsneq evlrvhyraa rtlanqtlpf sactvlldae vynvpldsqs ddsktsvrdr
     1981 fnarqfmswl qdvddkfdkl ktcllmrqqh eaaalnavqr lewqlklqel dpatyksisi
     2041 yeiqefyvpl vdvnddfelt pi
//
LOCUS       XP_054175401             839 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 4 regulatory subunit 1 isoform
            X10 [Homo sapiens].
ACCESSION   XP_054175401
VERSION     XP_054175401.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319426.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..839
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..839
                     /product="serine/threonine-protein phosphatase 4
                     regulatory subunit 1 isoform X10"
                     /calculated_mol_wt=94252
     CDS             1..839
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /coded_by="XM_054319426.1:76..2595"
                     /db_xref="GeneID:9989"
                     /db_xref="HGNC:HGNC:9320"
                     /db_xref="MIM:604908"
ORIGIN      
        1 madlsllqed lqedadgfgv ddyssesdvi iipsaldfvs qdemltplgr ldkyaaseni
       61 fnrqmvarsl ldtlrevcdd erdciavler isrladdsep tvraelmeqv phialfcqen
      121 rpsipyafsk fllpivvryl adqnnqvrkt sqaallalle qelierfdve tkvcpvliel
      181 tapdsnddvk teavavrqaa fqslgpfist fanpsssgqy fkeeskssee msvenknrtr
      241 dqeapedvqv rpedtpsdls vsnssvilen tmedhaaeas gkplgeisvp ldssllctls
      301 seshqeaasn endkkpgnyk smlrpevgtt sqdsalldqe lynsfhfwrt plpeidldie
      361 leqnsggkps pegpeeeseg pvpsspnitm atrkeleemi enlephiddp dvkaqvevls
      421 aalrasslda heetisiekr sdlqdeldin elpnckinqe dsvplisdav enmdstlhyi
      481 hsdsdlsnns sfspdeerrt kvqdvvpqal ldqylsmtdp sraqtvdtei akhcayslpg
      541 valtlgrqnw hclretyetl asdmqwkvrr tlafsihela vilgdqltaa dlvpifngfl
      601 kdldevrigv lkhlhdflkl lhidkrreyl yqlqeflvtd nsrnwrfrae laeqlillle
      661 lysprdvydy lrpialnlca dkvssvrwis yklvsemvkk lhaatpptfg vdlinelven
      721 fgrcpkwsgr qafvfvcqtv ieddclpmdq favhlmphll tlandrvpnv rvllaktlrq
      781 tllekdyfla saschqeave qtimalqmdr dsdvkyfasi hpastkised amstassty
//
LOCUS       XP_054175701             808 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 33 isoform X10 [Homo sapiens].
ACCESSION   XP_054175701
VERSION     XP_054175701.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319726.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..808
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..808
                     /product="rho GTPase-activating protein 33 isoform X10"
                     /calculated_mol_wt=83855
     CDS             1..808
                     /gene="ARHGAP33"
                     /gene_synonym="NOMA-GAP; SNX26; TCGAP"
                     /coded_by="XM_054319726.1:81..2507"
                     /db_xref="GeneID:115703"
                     /db_xref="HGNC:HGNC:23085"
                     /db_xref="MIM:614902"
ORIGIN      
        1 mgppgrrwev prldpapapp rlpalprtpa qsglstsegp largrcllpr pkslagscps
       61 trlltleeaq artqgrlgtp tepttpkapa spaerrkger gekqrkpggs swktffalgr
      121 gpsvprkkpl pwlggtrapp qpsgsrpdtv tlrsaksees lssqasgagl qrlhrlrrph
      181 sssdafpvgp apagscesls sssssessss essssssess aaglgalsgs pshrtsawld
      241 dgdeldfspp rcleglrgld fdpltfrcss ptpgdpappa spappapasa fpprvtpqai
      301 sprgptspas paaldisepl avsvppavle llgaggapas atptpalspg rslrphlipl
      361 llrgaeaplt dacqqemcsk lrgaqgplgp dmesplpppp lsllrpggap ppppknparl
      421 malalaeraq qvaeqqsqqe cggtppasqs pfhrslslev ggeplgtsgs gpppnslahp
      481 gawvpgpppy lprqqsdgsl lrsqrpmgts rrglrgpaqv saqlragggg rdapeaaaqs
      541 pcsvpsqvpt pgffspapre clppflgvpk pglyplgpps fqpsspapvw rsslgppapl
      601 drgenlyyei gasegspysg ptrswspfrs mppdrlnasy gmlgqspplh rspdfllsyp
      661 papscfppdh lgysapqhpa rrptppeply vnlalgprgp spassssssp pahprsrsdp
      721 gppvprlpqk qrapwgprtp hrvpgpwgpp eplllyraap paygrggelh rgslyrnggq
      781 rgegagpppp yptpswslhs egqtrsyc
//
LOCUS       XP_054176594             356 aa            linear   PRI 20-MAR-2023
DEFINITION  proline-rich protein 19 isoform X2 [Homo sapiens].
ACCESSION   XP_054176594
VERSION     XP_054176594.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320619.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..356
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..356
                     /product="proline-rich protein 19 isoform X2"
                     /calculated_mol_wt=38585
     CDS             1..356
                     /gene="PRR19"
                     /coded_by="XM_054320619.1:91..1161"
                     /db_xref="GeneID:284338"
                     /db_xref="HGNC:HGNC:33728"
ORIGIN      
        1 mdtqgpvsqp fqqpekpgrv rrrktrrern kalvgsrrpl ahhdppvair dppvvptask
       61 lvvitqgrls rehrglfnhe vksldvarll ssgtlvpgsp tlpakpspsp graqepaprs
      121 rdkenqvpgg sgpgppsspe lsgvgqllae lqcqlslpqa fprrnliqda rdaivhtlqa
      181 chgcvpdlal vlrgcqpplp gakpgvserk mtpfwinspd qvpeqerqrk qqgtkeftfp
      241 mpytssmpta hrgslapprg pwppyfpsls spsgtawgpp tafdllksiw lvatpppprp
      301 wgvglpqplp qpsspllprt svldwspspp splpslswvv aqsspeawsf ppmrly
//
LOCUS       XP_054196947            2055 aa            linear   PRI 20-MAR-2023
DEFINITION  1-phosphatidylinositol 3-phosphate 5-kinase isoform X6 [Homo
            sapiens].
ACCESSION   XP_054196947
VERSION     XP_054196947.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340972.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2055
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2055
                     /product="1-phosphatidylinositol 3-phosphate 5-kinase
                     isoform X6"
                     /calculated_mol_wt=232449
     CDS             1..2055
                     /gene="PIKFYVE"
                     /gene_synonym="CFD; FAB1; HEL37; PIP5K; PIP5K3; ZFYVE29"
                     /coded_by="XM_054340972.1:171..6338"
                     /db_xref="GeneID:200576"
                     /db_xref="HGNC:HGNC:23785"
                     /db_xref="MIM:609414"
ORIGIN      
        1 matddktspt ldsandlprs ptspshlthf kpltpdqdep pfksayssfv nlfrfnkera
       61 eggqgeqqpl sgswtspqlp srtqsvrspt pykkqlneel qrrssaladn slqhpqentd
      121 trrkaeptfg ghdprtavql rslstvlkrl keimegksqd sdlkqywmpd sqckecydcs
      181 ekfttfrrrh hcrlcgqifc srccnqeipg kfmgytgdlr actycrkial syahstdsns
      241 igedlnalsd sacsvsvldp seprtpvgsr kasrnifled dlawqslihp dssntplstr
      301 lvsvqedagk sparnrsasi tnlsldrsgs pmvpsyetsv spqanrtyvr tettederki
      361 lldsvqlkdl wkkichhssg mefqdhrywl rthpncivgk elvnwlirng hiatraqaia
      421 igqamvdgrw ldcvshhdql frdeyalyrp lqstefsetp spdsdsvnsv eghsepswfk
      481 dikfddsdte qiaeegddnl ansaspskrt svssfqstvd sdsaasisln veldnvnfhi
      541 kkpskyphvp phpadqkeyl isdtggqqls isdafikesl fnrrveeksk elpftplgwh
      601 hnnlellree ngekqamerl lsanhnhmma llqqllhsds lssswrdiiv slvcqvvqtv
      661 rpdvknqddd mdirqfvhik kipggkkfds vvvngfvctk niahkkmnsc iknpkilllk
      721 csieylyree tkftcidpiv lqereflkny vqrivdvrpt lvlvektvsr iaqdmllehg
      781 itlvinvksq vlerisrmtq gdlvmsmdql ltkphlgtch kfymqifqlp neqtktlmff
      841 egcpqhlgct iklrggsdye larvkeilif micvayhsql eisflmdefa mpptlmqnps
      901 fhsliegrgh egavqeqygg gsipwdpdip peslpcddss llesrivfek geqenknlpq
      961 avasvkhqeh sttacpaglp caffapvpes llplpvddqq dalgselpes lqqtvvlqdp
     1021 ksqirafrdp lqddtglyvt eevtssedkr ktyslafkqe lkdvilcisp vitfrepfll
     1081 tekgmrcstr dyfaeqvyws pllnkefkem enrrkkqllr dlsglqgmng siqaksiqvl
     1141 pshelvstri aehlgdsqsl grmladyrar ggriqpknsd pfahskdass tssgksgskn
     1201 egdeerglil sdavwstkvd clnpinhqrl cvlfssssaq ssnapsacvs pwivtmefyg
     1261 kndltlgifl erycfrpsyq cpsmfcdtpm vhhirrfvhg qgcvqiilke ldspvpgyqh
     1321 tiltyswcri ckqvtpvval sneswsmsfa kylelrfygh qytrranaep cghsihhdyh
     1381 qyfsynqmva sfsyspirll evcvplpkif ikrqaplkvs llqdlkdffq kvsqvyvaid
     1441 erlaslktdt fsktreekme difaqkemee gefknwiekm qarlmsssvd tpqqlqsvfe
     1501 sliakkqslc evlqawnnrl qdlfqqekgr krpsvppspg rlrqgeeski samdasprni
     1561 spglqngeke drflttlssq sstssthlql ptppevmseq svggppeldt asssedvfdg
     1621 hllgstdsqv kekstmkaif anllpgnsyn pipfpfdpdk hylmyeherv piavcekeps
     1681 siiafalsck eyrnaleels katqwnsaee glptnstsds rpkssspirl pemsggqtnr
     1741 ttetepqpne vdggdtqkkq linphvelqf sdanakfycr lyyagefhkm revildssee
     1801 dfirslshss pwqarggksg aafyateddr filkqmprle vqsfldfaph yfnyitnavq
     1861 qkrptalaki lgvyrigykn sqnntekkld llvmenlfyg rkmaqvfdlk gslrnrnvkt
     1921 dtgkescdvv lldenllkmv rdnplyirsh skavlrtsih sdshflsshl iidysllvgr
     1981 ddtsnelvvg iidyirtftw dkklemvvks tgilggqgkm ptvvspelyr trfceamdky
     2041 flmvpdhwtg lglnc
//
LOCUS       XP_054197278             433 aa            linear   PRI 20-MAR-2023
DEFINITION  ephexin-1 isoform X3 [Homo sapiens].
ACCESSION   XP_054197278
VERSION     XP_054197278.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341303.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..433
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..433
                     /product="ephexin-1 isoform X3"
                     /calculated_mol_wt=50839
     CDS             1..433
                     /gene="NGEF"
                     /gene_synonym="ARHGEF27; EPHEXIN"
                     /coded_by="XM_054341303.1:186..1487"
                     /db_xref="GeneID:25791"
                     /db_xref="HGNC:HGNC:7807"
                     /db_xref="MIM:605991"
ORIGIN      
        1 mfelvtseas yykslnllvs hfmenerirk ilhpseahil fsnvldvlav serflleleh
       61 rmeenivisd vcdivyryaa dhfsvyityv snqtyqerty kqllqekaaf reliaqleld
      121 pkcrglpfss flilpfqrit rlkllvqnil krveersere ctaldahkel emvvkacneg
      181 vrkmsrteqm isiqkkmefk iksvpiishs rwllkqgelq qmsgpktsrt lrtkklfhei
      241 ylflfndllv icrqipgdky qvfdsaprgl lrveeledqg qtlanvfilr llenaddrea
      301 tymlkassqs emkrwmtsla pnrrtkfvsf tsrlldcpqv qcvhpyvaqq pdeltlelad
      361 ilnildktdd gwifgerlhd qergwfpssm teeilnpkir sqnlkecfrv hkmddpqrsq
      421 nkdrrklgsr nrq
//
LOCUS       XP_054198011            6707 aa            linear   PRI 20-MAR-2023
DEFINITION  fibrous sheath-interacting protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054198011
VERSION     XP_054198011.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342036.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6707
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..6707
                     /product="fibrous sheath-interacting protein 2 isoform X3"
                     /calculated_mol_wt=757488
     CDS             1..6707
                     /gene="FSIP2"
                     /gene_synonym="SPGF34"
                     /coded_by="XM_054342036.1:597..20720"
                     /db_xref="GeneID:401024"
                     /db_xref="HGNC:HGNC:21675"
                     /db_xref="MIM:615796"
ORIGIN      
        1 mrhryldmis rkleqlerta eeqrlflmdr eerrqrehtr rkltlrrkie eewktkemll
       61 ltrmaedvkr eerieeqqhr nreesdrkkq dllekkmayh lqkmqdtgfn gedigkntfk
      121 yrgqdgthge sspknkkkts edimlvypag dqntykethg htanaahqrq nssnnftkkn
      181 sasvvyqadv qdnginqkrd gmvsknssif ddrgginisg qgsiisaqvs ptrnfsrvsq
      241 afldpskeek etnadwdgrp tkrssylces gpqahatdpg ifsspvytnm qqnllqnclq
      301 ekvtseelni iiqnvmtwvv atvtsilypa itkyekrlqn ntypvsddsi lssdsssfcs
      361 tcsedftyrs ytsattktfq aepcafvvdt svrrpttpik pppahvektv vgktchikgq
      421 siiskhkynk tnllysypkl rscksdshll asfetgtkks kdattetdsl gsslhcdkta
      481 kamdemknlk nvfvnfkcyl kgeteviles ilreimsdlt qaipslssvt aevfveqcer
      541 ekeillsnah ipsvaseive nmleklesav ekkcvemfsq dlsvdikpsl aasdelltss
      601 ngkplknsmp htldpmcdia edmvhailek lmtlvsfkqn eflhlkdtnk lscqqhktdp
      661 icmflqragk nksslesdea slivneevqn lisnifsqss lvayieeain ailgyiqtel
      721 nneriiasee tvvllqlled ilfqlhqepv nesfqksrqp risspsdtke kyrltgtrls
      781 nsprsgrpfp pinvpgmvly sddeneeidn ivknvldstf kdekvksqeq ipnhwftkgn
      841 tcfeckrnik pptkpgsrsk aafhdwelkt eppstnhedi lkkklssnkd istfsqdqkh
      901 qiekaseniv tsilkemlkd issvpfghld sktgseasvl vsekpqglsh qewidqmfsv
      961 seistvaqei tdsvlnilhk asnyisnttk ssisssvhqi slhnsdtehi vkeapnkypl
     1021 ktwfdsekkm kylslfdvdp ekppwlksgk sepkpvddin dkiirtifkr lksficpklh
     1081 mgfksslqsq lskytakivn ivlcaiqnel elhkenlnlr eidhtksltd kgffantdkk
     1141 leslvtsidd dilasplltc iydmllssen ahqrsislss rkpksatdsv dvqsilpnrq
     1201 dkksfhkyla tpcthhsvng gnhikenakl qvlerigetl hemlskllgt hlhsqlscsq
     1261 qsremtnknq kmaaalqsni qliskaildy ilaklcgvdm dtsfascglk aisesldidn
     1321 psfasiiekm akstkiissi vsrrvqednk eetkskakpv apvssktpst kemhpnklka
     1381 vasdilnmvf aklegfangh leilgaindg nkksnkigwe yestnisrdt heasflsaly
     1441 mhakkvssai lkviqtelnv tssdlktsve npppetqilk yvvklildav ssdmfnemes
     1501 egggietyry rptygslpgg aesdsfledd aytakkiide rspqreevkt rslkqwalek
     1561 tlnkievklk ephispiapi irnilneifq stlinqlnvl slshsnfngm phnvdeptpq
     1621 tsvqfmdkmm dpllseadit ivtdnivrtv fhklysaamt ernvrenryk titfsanvss
     1681 hehtykgkss vtaldenpct fqsrfsvadk etkvnlaedi vqailtnlet fatskvkslf
     1741 ysqvnftvpv alpiqqdhst lskalsakds ysdeqfsccs vdhtksgktn lcqlslskln
     1801 tyalqvarrn lqgikqeldk erenpflthd igisesiasq ivnalldiis rkgkcdknss
     1861 dkeidldqqk gviekllnet kyrkvlqlqi qdtiegilcd iyektlfqnn lsfatptlkc
     1921 siadkhseen semfmegank iipklsvpks dvilisndiv nivlhnlssa atlvinaknp
     1981 tsarlpltfc dtfpkidcqq plkgskterk terfsysrnq ksayaddnqi tvvekedtqk
     2041 satdsceena nfitktifkr lesfaterid slitlafqsk eksfvipele nckqndsify
     2101 dssqvesdvn vlkisateti lsqeltdftf vgrreklgst ihlsqarlkt yadviasail
     2161 klikndldle iqkiypyqnn ilfqeniivs eivdsmlkml ddkrsvkeic fnskensnfs
     2221 qlalsneill ghkekerstk qslftkyple qnqmilenkr qiivleeifm rngesknkek
     2281 gelliaveel lnklyqrvre vtghlpplne tanfisnski ktsdttqkns fqshinsvan
     2341 divesvlgkm ylvvvtslye nnksrtevei sdhndsllmk plrfretkqa gkisnsprya
     2401 isqaysyvds qnisvmentl lpylplqvkk dliqmvlnki tnfvslplkv spkdnpkpcf
     2461 kahlktrski ttlpkftkkt hlglsaakak sktklgpgek tlkdsrskta iglshimsag
     2521 daknlldtkl ptselkiyak diiinileti vkefgkvkqt kalpsdqiia agkivntvlq
     2581 elyvtnncnl aypmksshlr lsqgnigtgs lpkqqacfyl envssqlehi fpregifkkl
     2641 fdkwqtesnd kenekckllm iaenvlteis ikakeleysl sllnlpplen cesrfynhfk
     2701 gastraedtk aqinmfgrei vemlleklql cflsqiptpd seetlsnske hitakskygf
     2761 pnkhslsslp iyntktkdqi svgssnqivq eivetvlnml esfvdlqfkh iskyefseiv
     2821 kmpienlssi qqkllnkkml pklqplkmfs dksesntinf keniqnillr vhsfhsqllt
     2881 yavniisdml aviknkldne isqmepssis ilkenivase iigtlmdqct yfnesliqnl
     2941 sreslfqgae naytvnqvel atnmkmftsk lkegslginp sqvsktgfvf csdedmkeky
     3001 rvssdlptsv rssvedtvkn septkrpdse tmpscstrnk vqdhrpresn fgsfdqtmkg
     3061 nsylpegsfl qkllrkasds teaalkqvls fiemgkgenl rvfhyenlkp vvepnqiqtt
     3121 isplkiclaa enivntvlss cgfpsqphtn enreimkpff iskqsslsev sggqkdneks
     3181 llrmqdkkin yipeeenenl easredssfl qklkkkeypk ietvkeveaf tfadhemgsn
     3241 evhliarhvt tsvvtylknf ettvfseekm svstwsrkky eskqflrniy ddssiyqcce
     3301 hltesvlyhl tssisdgtkk grekekawei qeatfskiis ihsqvfesrs isigelalci
     3361 seiiikilfn nkiiqadiaq kmvaiptkyt ycpgivsggf ddlfqdllvg vihvlskeie
     3421 vdyhfesnvr nksfsmhrnn svplcnkinr qasprdwqfs tqqigqlfqk nklsylackl
     3481 nslvgnlkts eskevvnkvf nivsdlfspd ecldtgmdsg kiqrtyfyss nneqpnsilt
     3541 nnlqlssksv fllnvvcekl irilleects tafpdkgsvs eetsaeecql lkmlqsvedg
     3601 ksdyrkggmd ceclqvdyms dllenvaeid qdlltsdsml tiishslvks lmdklshsiq
     3661 qapeslpfan khlnyrtrei qssfikarks elielgqsks slelrsydsn sltvslnnps
     3721 vvsskiqapf nkhcavksss vspferqrtk emdkvaihnk lhqegiyagv ysatflegii
     3781 selffnlsms lwgknknitv swlnemntlf vnnvvnefnn aqvtvlrnae erlcfppvht
     3841 etvskivdsv yydvlqqyel kvacgnnpvy dnasiaeqit ngilleildy klpscfkehl
     3901 iphsyyplkp eiilqklqsn lteftslprs ssdystmlsh sfledvirrl lsqlipppit
     3961 csslgkkylm ssdfnemstc iinkvmsais khkiwftiyd nqylytgknl qkmvdsvycn
     4021 ilqmsdslvs iqksivsrsp imidqiasfi iqeiienhlq pflsgevlch prtpldpvst
     4081 ivtqvlsevi eshrpqkqsp ldihldsfvr eivarllski fspkhnteie lknmtqrivn
     4141 sinrhfnkak ihilyddkeq affsfntdiv delatsvyrn alkqhgldla vdkesedsgi
     4201 fvenitnliv aaisdyllhp lfsgdfsast ysnsvaeniv qdilsnisks tepsqsvply
     4261 ntllpytfle dmirvllskl fssasslvln rdtqkdisrv nfndiasnlv sdirmkvsqh
     4321 eirfskeeee tkfiyseddi qhlvdsvfan vvqtsgsqes avqnitssnd ilidriagfi
     4381 ikhicqkhlq pfvsgkslss sdtyfdderr qlfytsvyss tfledvisgv lrkifhrvvg
     4441 ivqtksirds edelfekaee lihlitgefs kaqvsiidnt eerlclppve rdvvktivdm
     4501 vyskvlqeye mevvpnkdfl ndtktlaari tniilaeifd fqihpdlian lpfkshskls
     4561 anvliqrvqy disksrfqrq astmyttmls hshlekivtq ltsqisplnt saeqsdttks
     4621 dlsntvikli neimsiiskh eiciikygnk kqsmisakdi qsmvdsiyad lshsniyqsi
     4681 tkdkksisdi pvskiasfii keifnhhiqs flsedktlll aavdqtyklk aidpkqrels
     4741 fivnssvfle evisellcki lyafshnvlv tenpdrvklk ltrivttlvn sivlefttse
     4801 ilvadnfdkn lcfserykem vqkivnsvyg kvldqyksli qihrviqsdt icfgrkiyyl
     4861 lleeiydyqv qslvsgeles ssysypqadn iirnvlniit kdshalppyi tvlphslled
     4921 mvyrllghvf psthtenelk ekkfppddef veaaskltde iikeisehei rlsmaednae
     4981 smqlepienl vdsicnnilk tsefqaevqk dadkkgcsfl sklagfimke imyhhlqpfl
     5041 hgeessfsdl sdydhvsela ksgkektqps lysatfledi iidlvhkfcs lliitedskk
     5101 nemaeldimg lalklansli refkksdikv lpnaekmfsf ppidketvdk isnfvydqfi
     5161 ekctshdiqk gdesniaigm iaaltqkais afriqplfsg dwsstffsfl npdnitqrvq
     5221 hlpqntftqi srcakenqls lpdqsykdts stpdcknmms tleinrgtmn rkksfktkdt
     5281 svkkgdiqnp vlssinaimk sgminltsgl atgvtnkkev denkvgictq khsenvskvt
     5341 stttvkskdt qepnlsetfn nneiekkrnl iptdkkgkdd eiythfslii ddteyekevl
     5401 gsdseigykk kidnaressf kkddklfqls slkskrnlgt ttdtleirtr tssnegrrds
     5461 ptqtcrdeeh hsdyehvqnv ienifedvle lssspepayy sklsydqspp gdnvlnviqe
     5521 isrdsaqsvt tkkvssstnk nisakekeee erekekvree iksepskpdd pqnqreskpg
     5581 ifpakfledv itemvkqlif ssipetqiqd rcqnvsdkqn qaklydtamk linsllkefs
     5641 daqikvfrpd kgnqfpggkv ssvpkvppry kepttdeaps sikiksadkm ppmhkmmrkp
     5701 ssdkipsidk tlvnkvvhss vcnilndygs qdsiwknins ngenlarrlt savineifqr
     5761 qvnlifcdev svsaclples kdvvkkvqkl aqtaskecqt sspytiilph kflenvisal
     5821 fskifstiss tktkepednl stelnflqmk lvsavateis qdkymtiqyv etlqsdddei
     5881 iqlvvqsvyn nllpqfgsqe iiqncvtsgc kilsenivdl vlrevasnql qsyfcgeltp
     5941 hqcveveniv ekilkdvfqt tdvplpkpsh adklsyniie eiavkflskl lsifpkvhke
     6001 rtksletdmq kitskvlnsv qefiskskik lvpptkespt vpvadnatie nivnsiytsv
     6061 lkhsgsytsv fkdlmgksnv lsdtigflmv naisnsefqp qveeevsnse lvleavkime
     6121 kvikiidelk skeksssrkg ltldakllee vlalflakli rlpsssskde knlsktelnk
     6181 iasqlsklvt aeisrssisl iasdpeehcl npenteriyq vvdsvysnil qqsgtnkefy
     6241 ydikdtntaf pkkvasliid gvssfpldti nstisnadls geldvnrivq kaqehafnvi
     6301 peleqekldq nlseeespik ivphvgkkpv kidpkiiseh lavisiktqp leklkqeclk
     6361 rtghsiaelr rasisgrnys lgspdlekrk terrtsldkt grldvkplea varnsfqnir
     6421 kpditkvell kdvqskndli vrlvahdidq vylenyikee rdsdedevvl tqtfakeegi
     6481 kvfedqvkev kkpiqsklsp kstlstsslk kflslskccq ttasaniesi eaisnqvies
     6541 kethvkrava eldmatpktm petassswee kpqckkeekn lvtepthyfi hrimssssyn
     6601 qedlisstge aedchsdpsa kileessqeq kpehgnsvkf itiferskdv lgsanpskev
     6661 isetpkpdvs kqgskmltkm ssalskvfsq cntnisrsss pahqdeh
//
LOCUS       XP_054180606             291 aa            linear   PRI 20-MAR-2023
DEFINITION  poly(rC)-binding protein 3 isoform X19 [Homo sapiens].
ACCESSION   XP_054180606
VERSION     XP_054180606.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324631.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..291
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..291
                     /product="poly(rC)-binding protein 3 isoform X19"
                     /calculated_mol_wt=30941
     CDS             1..291
                     /gene="PCBP3"
                     /gene_synonym="ALPHA-CP3; PCBP3-OT1; PCBP3OT"
                     /coded_by="XM_054324631.1:344..1219"
                     /db_xref="GeneID:54039"
                     /db_xref="HGNC:HGNC:8651"
                     /db_xref="MIM:608502"
ORIGIN      
        1 mgegdafwap svlphstlst lshhpqpqfg rrmeskvseg glnvtltirl lmhgkevgsi
       61 igkkgetvkk mreesgarin isegncperi vtitgptdai fkafamiayk feediinsms
      121 nspatskppv tlrlvvpasq cgsligkggs kikeirestg aqvqvagdml pnsteravti
      181 sgtpdaiiqc vkqicvvmle sppkgatipy rpkpastpvi faggqaytiq gqyaiphpdq
      241 ltklhqlamq qtpfpplgqt npafpgeklp lhsseeaqnl mgqssglqan p
//
LOCUS       XP_054182026             666 aa            linear   PRI 20-MAR-2023
DEFINITION  kelch-like protein 22 isoform X3 [Homo sapiens].
ACCESSION   XP_054182026
VERSION     XP_054182026.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326051.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..666
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..666
                     /product="kelch-like protein 22 isoform X3"
                     /calculated_mol_wt=75067
     CDS             1..666
                     /gene="KLHL22"
                     /gene_synonym="KELCHL"
                     /coded_by="XM_054326051.1:3311..5311"
                     /db_xref="GeneID:84861"
                     /db_xref="HGNC:HGNC:25888"
                     /db_xref="MIM:618020"
ORIGIN      
        1 mpppwhpppr llavcllttt qatvvrdlva vrmaeeqeft qlcklpaqps hphcvnntyr
       61 saqhsqallr gllalrdsgi lfdvvlvveg rhieahrill aascdyfrgm fagglkemeq
      121 eevlihgvsy namcqilhfi ytselelsls nvqetlvaac qlqipeiihf ccdflmswvd
      181 eenildvyrl aelfdlsrlt eqldtyilkn fvafsrtdky rqlplekvys llssnrlevs
      241 cetevyegal lyhysleqvq adqislhepp klletvrfpl meaevlqrlh dkldpsplrd
      301 tvasalmyhr neslqpslqs pqtelrsdfq cvvgfggihs tpstvlsdqa kylnpllgew
      361 khftaslapr msnqgiavln nfvyliggdn nvqgfraesr cwrydprhnr wfqiqslqqe
      421 hadlsvcvvg ryiyavagrd yhndlnaver ydpatnsway vaplkrevya hagatlegkm
      481 yitcgrrged ylkethcydp gsntwhtlad gpvrrawhgm atllnklyvi ggsnndagyr
      541 rdvhqvacys ctsgqwssvc plpaghgepg iavldnriyv lggrshnrgs rtgyvhiydv
      601 ekdcweegpq ldnsisglaa cvltlprsll lepprgtpdr sqadpdfase vmsvsdweef
      661 dnssed
//
LOCUS       XP_054202354             922 aa            linear   PRI 20-MAR-2023
DEFINITION  metabotropic glutamate receptor 7 isoform X1 [Homo sapiens].
ACCESSION   XP_054202354
VERSION     XP_054202354.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346379.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..922
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..922
                     /product="metabotropic glutamate receptor 7 isoform X1"
                     /calculated_mol_wt=102923
     CDS             1..922
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /coded_by="XM_054346379.1:275..3043"
                     /db_xref="GeneID:2917"
                     /db_xref="HGNC:HGNC:4599"
                     /db_xref="MIM:604101"
ORIGIN      
        1 mvqlrkllrv ltlmkfpccv levllcalaa aargqemyap hsiriegdvt lgglfpvhak
       61 gpsgvpcgdi krengihrle amlyaldqin sdpnllpnvt lgarildtcs rdtyaleqsl
      121 tfvqaliqkd tsdvrctnge ppvfvkpekv vgvigasgss vsimvanilr lfqipqisya
      181 stapelsddr rydffsrvvp pdsfqaqamv divkalgwny vstlasegsy gekgvesftq
      241 iskeagglci aqsvripqer kdrtidfdri ikqlldtpns ravvifande dikqilaaak
      301 radqvghflw vgsdswgski nplhqhedia egaitiqpkr atvegfdayf tsrtlennrr
      361 nvwfaeywee nfnckltisg skkedtdrkc tgqerigkds nyeqegkvqf vidavyamah
      421 alhhmnkdlc adfrgvcpem eqaggkkllk yirnvnfngs agtpvmfnkn gdapgrydif
      481 qyqttntsnp gyrligqwtd elqlniedmq wgkgvreipa svctlpckpg qrkktqkgtp
      541 ccwtcepcdg yqyqfdemtc qhcpydqrpn enrtgcqdip iiklewhspw avipvflaml
      601 giiatifvma tfiryndtpi vrasgrelsy vlltgiflcy iitflmiakp dvavcsfrrv
      661 flglgmcisy aalltktnri yrifeqgkks vtaprlispt sqlaitssli svqllgvfiw
      721 fgvdppniii dydehktmnp eqargvlkcd itdlqiicsl gysillmvtc tvyaiktrgv
      781 penfneakpi gftmyttciv wlafipiffg taqsaeklyi qtttltismn lsasvalgml
      841 ympkvyiiif hpelnvqkrk rsfkavvtaa tmssrlshkp sdrpngeakt elcenvdpnn
      901 cippvrksvq ksvtwytipp tv
//
LOCUS       XP_054206294             307 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium uniporter regulatory subunit MCUb, mitochondrial isoform X1
            [Homo sapiens].
ACCESSION   XP_054206294
VERSION     XP_054206294.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350319.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..307
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..307
                     /product="calcium uniporter regulatory subunit MCUb,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=35427
     CDS             1..307
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
                     /coded_by="XM_054350319.1:799..1722"
                     /db_xref="GeneID:55013"
                     /db_xref="HGNC:HGNC:26076"
ORIGIN      
        1 msvlvlrvkl cgnvkyyqsh hystvvppde itviyrhglp lvtltlpsrk ercqfvvkpm
       61 lstvgsflqd lqnedkgikt aaiftadgnm isastlmdil lmndfklvin kiaydvqcpk
      121 rekpsnehta emehmkslvh rlftilhlee sqkkrehhll ekidhlkeql qpleqvkagi
      181 eahseaktsg llwaglalls iqggalawlt wwvyswdime pvtffitfan smvffayfiv
      241 trqdytysav ksrqflqffh kkskqqhfdv qqynklkedl akakeslkqa rhslclqmqv
      301 eelnekn
//
LOCUS       XP_054206725             548 aa            linear   PRI 20-MAR-2023
DEFINITION  signal recognition particle subunit SRP72 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054206725
VERSION     XP_054206725.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350750.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..548
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..548
                     /product="signal recognition particle subunit SRP72
                     isoform X1"
                     /calculated_mol_wt=61146
     CDS             1..548
                     /gene="SRP72"
                     /gene_synonym="BMFF; BMFS1; HEL103"
                     /coded_by="XM_054350750.1:20..1666"
                     /db_xref="GeneID:6731"
                     /db_xref="HGNC:HGNC:11303"
                     /db_xref="MIM:602122"
ORIGIN      
        1 masggsggvs vpalwsevnr ygqngdftra lktvnkilqi nkddvtalhc kvvcliqngs
       61 fkealnvint htkvlannsl sfekayceyr lnrienalkt iesanqqtdk lkelygqvly
      121 rlerydecla vyrdlvrnsq ddydeerktn lsavvaaqsn wekvvpenlg lqegthelcy
      181 ntacaligqg qlnqamkilq kaedlcrrsl sedtdgteed pqaelaiihg qmayilqlqg
      241 rteealqlyn qiiklkptdv gllavianni itinkdqnvf dskkkvkltn aegvefklsk
      301 kqlqaiefnk allamytnqa eqcrkisasl qsqspehllp vliqaaqlcr ekqhtkaiel
      361 lqefsdqhpe naaeikltma qlkisqgnis kaclilrsie elkhkpgmvs alvtmyshee
      421 didsaievft qaiqwyqnhq pkspahlsli reaanfklky grkkeaisdl qqlwkqnpkd
      481 ihtlaqlisa yslvdpekak alskhlpssd smslkvdvea lensagatyi rkkggkvtgd
      541 sqpkeqga
//
LOCUS       XP_054207127            1084 aa            linear   PRI 20-MAR-2023
DEFINITION  electrogenic sodium bicarbonate cotransporter 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054207127
VERSION     XP_054207127.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351152.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1084
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1084
                     /product="electrogenic sodium bicarbonate cotransporter 1
                     isoform X2"
                     /calculated_mol_wt=121916
     CDS             1..1084
                     /gene="SLC4A4"
                     /gene_synonym="hhNMC; HNBC1; KNBC; kNBC1; NBC1; NBC2;
                     NBCe1; NBCe1-A; pNBC; SLC4A5"
                     /coded_by="XM_054351152.1:193..3447"
                     /db_xref="GeneID:8671"
                     /db_xref="HGNC:HGNC:11030"
                     /db_xref="MIM:603345"
ORIGIN      
        1 mldllmedea vldrgasflk hvcdeeeveg hhtiyigvhv pksyrrrrrh krktghkekk
       61 ekerisenys dksdienade ssssilkpli spaaerirfi lgeeddspap pqlfteldel
      121 lavdgqemew ketarwikfe ekveqggerw skphvatlsl hslfelrtcm ekgsimldre
      181 asslpqlvem ivdhqietgl lkpelkdkvt ytllrkhrhq tkksnlrsla digktvssas
      241 rmftnpdngs pamthrnlts sslndisdkp ekdqlknkfm kklprdaeas nvlvgevdfl
      301 dtpfiafvrl qqavmlgalt evpvptrflf illgpkgkak syheigraia tlmsdevfhd
      361 iaykakdrhd liagidefld evivlppgew dpairieppk slpssdkrkn mysggenvqm
      421 ngdtphdggh gggghgdcee lqrtgrfcgg likdikrkap ffasdfydal niqalsailf
      481 iylatvtnai tfggllgdat dnmqgvlesf lgtavsgaif clfagqplti lsstgpvlvf
      541 erllfnfskd nnfdylefrl wiglwsaflc lilvatdasf lvqyftrfte egfsslisfi
      601 fiydafkkmi kladyypins nfkvgyntlf sctcvppdpa nisisndttl apeylptmss
      661 tdmyhnttfd waflskkecs kyggnlvgnn cnfvpditlm sfilflgtyt ssmalkkfkt
      721 spyfpttark lisdfaiils ilifcvidal vgvdtpkliv psefkptspn rgwfvppfge
      781 npwwvclaaa ipallvtili fmdqqitavi vnrkehklkk gagyhldlfw vailmvicsl
      841 malpwyvaat visiahidsl kmetetsapg eqpkflgvre qrvtgtlvfi ltglsvfmap
      901 ilkfipmpvl ygvflymgva slngvqfmdr lklllmplkh qpdfiylrhv plrrvhlftf
      961 lqvlclallw ilkstvaaii fpvmilalva vrkgmdylfs qhdlsflddv ipekdkkkke
     1021 dekkkkkkkg sldsdnddsd cpysekvpsi kipmdimeqq pflsdskpsd rersptfler
     1081 htsc
//
LOCUS       XP_054209927             198 aa            linear   PRI 20-MAR-2023
DEFINITION  putative TAF11-like protein ENSP00000332601 [Homo sapiens].
ACCESSION   XP_054209927
VERSION     XP_054209927.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353952.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..198
                     /product="putative TAF11-like protein ENSP00000332601"
                     /calculated_mol_wt=21513
     CDS             1..198
                     /gene="LOC128966665"
                     /coded_by="XM_054353952.1:729..1325"
                     /db_xref="GeneID:128966665"
ORIGIN      
        1 metgrqtgvs aemlamprgl kgskkdgipe dldgnleapr dqegelrsed vmdltegdse
       61 asasappaak rrkthtkgkk eskptvdaee aqrmttllsa mseeqlsrye vcrrsafpra
      121 rvaglmrait gssvsenaai amagiaklfv gevveealdv cemwgetppl qpkhlreavr
      181 rlkpkglfpn snckrimf
//
LOCUS       XP_054211255            2026 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 40 isoform X7 [Homo sapiens].
ACCESSION   XP_054211255
VERSION     XP_054211255.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355280.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2026
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2026
                     /product="zinc finger protein 40 isoform X7"
                     /calculated_mol_wt=222098
     CDS             1..2026
                     /gene="HIVEP1"
                     /gene_synonym="CIRIP; CRYBP1; GAAP; MBP-1; PRDII-BF1;
                     Schnurri-1; ZAS1; ZNF40; ZNF40A"
                     /coded_by="XM_054355280.1:359..6439"
                     /db_xref="GeneID:3096"
                     /db_xref="HGNC:HGNC:4920"
                     /db_xref="MIM:194540"
ORIGIN      
        1 mprtkqihpr nlrdkieeaq kelngaevsk keilqagvkg tseslkgvkr kkivaenhlk
       61 kipksplrnp lqakhkqnte essfavlhsa seshkkqnyi pvkngkqftk qngetpgiia
      121 easkseesvs pkkplflqqp selrrwrseg adpakfsdld eqcdssslss ktrtdnseci
      181 sshcgttsps ytntafdvll kamepelstl sqkgspcaik teklrpnkta rsppklknss
      241 mdapnqtsqe lvaesqssct sytvhmsaaq kneqgamqsa shlyhqhehf vpksnqhnqq
      301 lpgcsgftgs ltnlqnqena kleqvyniav tssvgltsps srsqvtpqnq qmdsasplsi
      361 spanstqspp mpiynsthva svvnqsveqm cnlllkdqkp kkqgkyicey cnracakpsv
      421 llkhirshtg erpypcvtcg fsfktksnly khkkshahti klglvlqpda gglflshesp
      481 kalsihsdve dsgeseeega tderqhdlga melqpvhiik rmsnaetllk ssftpsspen
      541 vigdfllqdr saesqavtel pkvvvhhvtv splrtdspka mdpkpelssa qkqkdlqvtn
      601 vqplsanmsq ggvsrletne nshqkgdmnp legkqdshvg tvhaqlqrqq atdysqeqqg
      661 kllsprslgs tdsgyfsrse sadqtvsppt pfarrlpste qdsgrsngps aalvttstps
      721 alptgekall lpgqmrppla tktleerisk lisdnealvd dkqldsvkpr rtslsrrgsi
      781 dspksyifkd sfqfdlkpvg rrtssssdip kspftpteks kqvfllsvps ldclpitrsn
      841 smpttgysav paniippphp lrgsqsfddk igafyddvfv sgpnapvpqs ghprtlvrqa
      901 aiedssanes hvlgtgqsld eshqgchaag eamsvrskal aqgphiekkk shqgrgtmfe
      961 cetcrnryrk lenfenhkkf ycselhgpkt kvamrepehs pvpgglqpqi lhyrvagssg
     1021 iweqtpqirk rrkmksvgdd eelqqnesgt spksseglqf qnalgcnpsl pkhnvtirsd
     1081 qqhkniqlqn shihlvargp eqtmdpklst imeqqissaa qdkielqrhg tgisviqhtn
     1141 slsrpnsfdk pepferaspv sfqelnrtgk sgslkvigis qeeshpsrdg shphqlalsd
     1201 alrgelqess rkspserhvl gqpsrlvrqh niqvpeilvt eepdrdleaq chdqeksekf
     1261 swpqrsetls klpteklppk kkrlrlaeie hsstessfds tlsrslsres slshtssfsa
     1321 sldiedvskt easpkidfln kaeflmipag lntlnvpgch remrrtaseq inctqtsmev
     1381 sdlrsksfdc gsitppqttp ltelqppssp srvgvtghvp llerrrgplv rqislniapd
     1441 shlspvhpts fqntalpsvn avpyqgpqlt stslaefsan tlhsqtqvkd lqaetsnsss
     1501 tnvfpvqqlc dinllnqiha ppshqstqls lqvstqgskp dknsvlsgss ksedcfapky
     1561 qlhcqvftsg pscssnpvhs lpnqvisdpv gtdhcvtsat lptklidsms nshpllppel
     1621 rplgsqvqkv pssfmlpirl qssvpaycfa tltslpqilv tqdlpnqpic qtnhsvvpis
     1681 eeqnsvptlq kghqnalpnp ekeflcenvf semsqnssls eslpitqkis vgrlspqqes
     1741 sasskrmlsp ansldiamek hqkrakdeng avcatdvrpl ealssrvnea skqkkpilvr
     1801 qvcttepldg vmlekdvfsq peisneavnl tnvlpadnss tgcskfvvie piselqefen
     1861 iksstsltlt vrsspapsen thisplkctd nnqerkspgv knqgdkvniq eqsqqpvtsl
     1921 slfnikdtqq lafpslkttt nftwcyllrq kslhlpqkdq ktsaytdwtv sasnpnplgl
     1981 ptkvalalln skqntgksly cqaitthsks dllvysskwk sslski
//
LOCUS       XP_054212362            1143 aa            linear   PRI 20-MAR-2023
DEFINITION  large proline-rich protein BAG6 isoform X2 [Homo sapiens].
ACCESSION   XP_054212362
VERSION     XP_054212362.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356387.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1143
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1143
                     /product="large proline-rich protein BAG6 isoform X2"
                     /calculated_mol_wt=120200
     CDS             1..1143
                     /gene="BAG6"
                     /gene_synonym="BAG-6; BAT3; D6S52E; G3"
                     /coded_by="XM_054356387.1:252..3683"
                     /db_xref="GeneID:7917"
                     /db_xref="HGNC:HGNC:13919"
                     /db_xref="MIM:142590"
ORIGIN      
        1 mepndststa veepdslevl vktldsqtrt fivgaqmnvk efkehiaasv sipsekqrli
       61 yqgrvlqddk klqeynvggk vihlverapp qthlpsgass gtgsasathg ggsppgtrgp
      121 gasvhdrnan syvmvgtfnl pseprvrlvm aqhmirdiqt llsrmecrgg pqpqhsqppp
      181 qppavtpepv alssqtsepv eseapprepm eaeeveerap aqnpeltpgp apagptpape
      241 tnapnhpspa eyvevlqelq rlesrlqpfl qryyevlgaa attdynnnhe greedqrlin
      301 lvgeslrllg ntfvalsdlr cnlactpprh lhvvrpmshy ttpmvlqqaa ipiqinvgtt
      361 vtmtgngtrp pptpnaeapp pgpgqassva psstnvessa egapppgpap ppatshprvi
      421 rishqsvepv vmmhmniqds gtqpggvpsa ptgplgppgh gqtlgstliq lpslppefmh
      481 avahqithqa mvaavasaaa gqqvpgfpta ptrvviarpt ppqarpshpg gppvsgtlga
      541 glgtnaslaq mvsglvgqll mqpvlvaqgt pgmapppapa tasasagttn tattagpapg
      601 gpaqppptpq psmadlqfsq llgnllgpag pgaggpgvas ptitvampgv paflqgmtdf
      661 lqatqtappp pppppppppa peqqtmpppg spsggagspg glgleslspe fftsvvqgvl
      721 ssllgslgar agssesiaaf iqrlsgssni fepgadgalg ffgallsllc qnfsmvdvvm
      781 llhghfqplq rlqpqlrsff hqhylggqep tpsnirmath tlitgleeyv resfslvqvq
      841 pgvdiirtnl eflqeqfnsi aahvlhctds gfgarllelc nqglfeclal nlhclggqqm
      901 elaavingri rrmsrgvnps lvswlttmmg lrlqvvlehm pvgpdailry vrrvgdppqp
      961 lpeepmevqg aeraspepqr enaspapgtt aeeamsrgpp papeggsrde qdgasaetep
     1021 waaavppewv piiqqdiqsq rkvkpqppls daylsgmpak rrktmqgegp qlllseavsr
     1081 aakaagarpl tspeslsrdl eapevqesyr qqlrsdiqkr lqedpnyspq rfpnaqrafa
     1141 ddp
//
LOCUS       XP_054213909             522 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 775 isoform X3 [Homo sapiens].
ACCESSION   XP_054213909
VERSION     XP_054213909.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357934.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..522
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..522
                     /product="zinc finger protein 775 isoform X3"
                     /calculated_mol_wt=58275
     CDS             1..522
                     /gene="ZNF775"
                     /coded_by="XM_054357934.1:287..1855"
                     /db_xref="GeneID:285971"
                     /db_xref="HGNC:HGNC:28501"
ORIGIN      
        1 mkvkqekper llqtlapqam lvekdkenif qqhrglpprq tmgrpralgg qeesgsprwa
       61 ppteqdagla grapgsasgp lspslssgeg hfvcldcgkr fswwsslkih qrthtgekpy
      121 lcgkcgksfs qkpnlarhqr hhtgerpfcc pecarrfsqk qhllkhqkth srpathscpe
      181 cercfrhqvg lrihqrahar drqgsraglh eliqdaaarr acrlqpgppr grpewawlgl
      241 cqgwwgqpga raavsgpegp geprqficne cgksftwwss lnihqrihtg erpyacpecg
      301 rrfsqkpnlt rhlrnhtger phpcphcgrg frqkqhllkh lrthlpgaqa apcpscgksc
      361 rsraalrahq rahavaepav pagepgdqpq aeaipglaar prssqrspga rdalwgrgqa
      421 glagpgeprq ficnecgksf swwsaltihq rihtgerpyp cpecgrrfsq kpnltrhrrn
      481 htgerpylcp acgrgfsqkq hllkhqrvhr aapacspkee ar
//
LOCUS       XP_054218452            1352 aa            linear   PRI 20-MAR-2023
DEFINITION  KN motif and ankyrin repeat domain-containing protein 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_054218452
VERSION     XP_054218452.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362477.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1352
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1352
                     /product="KN motif and ankyrin repeat domain-containing
                     protein 1 isoform X1"
                     /calculated_mol_wt=147158
     CDS             1..1352
                     /gene="KANK1"
                     /gene_synonym="ANKRD15; CPSQ2; KANK"
                     /coded_by="XM_054362477.1:289..4347"
                     /db_xref="GeneID:23189"
                     /db_xref="HGNC:HGNC:19309"
                     /db_xref="MIM:607704"
ORIGIN      
        1 mahttkvngs asgkagdils gdqdkeqkdp yfvetpygyq ldldflkyvd diqkgntikr
       61 lniqkrrkps vpcpeprtts gqqgiwtste slsssnsddn kqcpnfliar sqvtstpisk
      121 ppppletslp fltipenrql pppspqlpkh nlhvtktlme trrrleqera tmqmtpgefr
      181 rprlasfggm gttsslpsfv gsgnhnpakh qlqngyqgng dygsyapaap ttssmgssir
      241 hsplssgist pvtnvspmhl qhireqmaia lkrlkeleeq vrtipvlqvk isvlqeekrq
      301 lvsqlknqra asqinvcgvr krsysagnas qleqlsrarr sggelyidye eeemetveqs
      361 tqrikefrql tadmqaleqk iqdssceass elrengecrs vavgaeenmn divvyhrgsr
      421 sckdaavgtl vqmrncgvsv teamlgvmte adkeielqqq tieslkekiy rlevqlrett
      481 hdremtklkq elqaagsrkk vdkatmaqpl vfskvveavv qtrdqmvgsh mdlvdtcvgt
      541 svetnsvgis cqpecknkvv gpelpmnwwi vkervemhdr cagrsvemcd ksvsvevsvc
      601 etgsnteesv ndltllktnl nlkevrsigc gdcsvdvtvc spkecasrgv nteavsqvea
      661 avmavprtad qdtstdleqv hqftntetat liesctntcl stldkqtstq tvetrtvavg
      721 egrvkdinss tktrsigvgt llsghsgfdr psavktkesg vgqinindny lvglkmrtia
      781 cgppqltvgl tasrrsvgvg ddpvgeslen pqpqaplgmm tgldhyieri qkllaeqqtl
      841 laenyselae afgephsqmg slnsqlistl ssinsvmksa steelrnpdf qktslgkitg
      901 nylgytckcg glqsgsplss qtsqpeqevg tsegkpissl dafptqegtl spvnltddqi
      961 aaglyactnn estlksimkk kdgnkdsnga kknlqfvgin ggyettssdd sssdesssse
     1021 sddecdviey pleeeeeeed edtrgmaegh havnieglks arvedemqvq ecepekveir
     1081 eryelsekml sacnllknti ndpkaltskd mrfclntlqh ewfrvssqks aipamvgdyi
     1141 aafeaispdv lryvinladg ngntalhysv shsnfeivkl lldadvcnvd hqnkagytpi
     1201 mlaalaavea ekdmriveel fgcgdvnaka sqagqtalml avshgridmv kgllacgadv
     1261 niqddegsta lmcasehghv eivklllaqp gcnghlednd gstalsiale aghkdiavll
     1321 yahvnfakaq spgtprlgrk tspgpthrgs fd
//
LOCUS       XP_054220297             571 aa            linear   PRI 20-MAR-2023
DEFINITION  maternal embryonic leucine zipper kinase isoform X10 [Homo
            sapiens].
ACCESSION   XP_054220297
VERSION     XP_054220297.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364322.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..571
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..571
                     /product="maternal embryonic leucine zipper kinase isoform
                     X10"
                     /calculated_mol_wt=65517
     CDS             1..571
                     /gene="MELK"
                     /gene_synonym="HPK38"
                     /coded_by="XM_054364322.1:388..2103"
                     /db_xref="GeneID:9833"
                     /db_xref="HGNC:HGNC:16870"
                     /db_xref="MIM:607025"
ORIGIN      
        1 mmnfsnimny mkllgqsdlp rikteiealk nlrhqhicql yhvletanki fmvleenllf
       61 deyhklklid fglcakpkgn kdyhlqtccg slayaapeli qgksylgsea dvwsmgilly
      121 vlmcgflpfd ddnvmalykk imrgkydvpk wlspssilll qqmlqvdpkk rismknllnh
      181 pwimqdynyp vewqsknpfi hldddcvtel svhhrnnrqt medlislwqy dhltatylll
      241 lakkargkpv rlrlssfscg qasatpftdi ksnnwsledv tasdknyvag lidydwcedd
      301 lstgaatprt sqftkywtes ngvesksltp alcrtpankl knkenvytpk savkneeyfm
      361 fpepktpvnk nqhkreiltt pnryttpska rnqclketpi kipvnstgtd klmtgvispe
      421 rrcrsveldl nqahmeetpk rkgakvfgsl ergldkvitv ltrskrkgsa rdgprrlklh
      481 ynvtttrlvn pdqllneims ilpkkhvdfv qkgytlkcqt qsdfgkvtmq felevcqlqk
      541 pdvvgirrqr lkgdawvykr lvedilssck v
//
LOCUS       XP_054220424             210 aa            linear   PRI 20-MAR-2023
DEFINITION  ribosome biogenesis protein BMS1 homolog isoform X9 [Homo sapiens].
ACCESSION   XP_054220424
VERSION     XP_054220424.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364449.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..210
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..210
                     /product="ribosome biogenesis protein BMS1 homolog isoform
                     X9"
                     /calculated_mol_wt=23780
     CDS             1..210
                     /gene="LOC128966634"
                     /coded_by="XM_054364449.1:1..633"
                     /db_xref="GeneID:128966634"
ORIGIN      
        1 mwsirsdaei kgdgvallpg gaeqvagggd ltlketdtet cvqlmengsr gtggcncgkl
       61 lwgfaaersr emkqflveev eskgfelnhv efedqddear vqyegfrpgm yvrveienvp
      121 cefvqnfdph ypiilgglgn segnvghvqm rlkkhrwykk ilksqdpiif svgwrrfqti
      181 llyyiedhng rqrllkytpq hihcgaafwa
//
LOCUS       XP_054182386             359 aa            linear   PRI 20-MAR-2023
DEFINITION  Krueppel-like factor 8 isoform X1 [Homo sapiens].
ACCESSION   XP_054182386
VERSION     XP_054182386.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326411.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..359
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..359
                     /product="Krueppel-like factor 8 isoform X1"
                     /calculated_mol_wt=39183
     CDS             1..359
                     /gene="KLF8"
                     /gene_synonym="BKLF3; ZNF741"
                     /coded_by="XM_054326411.1:314..1393"
                     /db_xref="GeneID:11279"
                     /db_xref="HGNC:HGNC:6351"
                     /db_xref="MIM:300286"
ORIGIN      
        1 mvdmdklinn levqlnsegg smqvfkqvta svrnrdppei eyrsnmtspt lldanpmenp
       61 alfndikiep peellasdfs lpqvepvdls fhkpkaplqp asmlqapirp pkpqsspqtl
      121 vvststsdms tsaniptvlt pgsvltssqs tgsqqilhvi htipsvslpn kmgglktipv
      181 vvqslpmvyt tlpadggpaa itvpliggdg knagsvkvdp tsmspleips dseestiesg
      241 ssalqslqgl qqepaamaqm qgeesldlkr rrihqcdfag cskvytkssh lkahrrihtg
      301 ekpykctwdg cswkfarsde ltrhfrkhtg ikpfrctdcn rsfsrsdhls lhrrrhdtm
//
LOCUS       NP_976037                867 aa            linear   PRI 22-MAR-2023
DEFINITION  DNA endonuclease RBBP8 isoform b [Homo sapiens].
ACCESSION   NP_976037
VERSION     NP_976037.1
DBSOURCE    REFSEQ: accession NM_203292.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 867)
  AUTHORS   Jeong SY, Hariharasudhan G, Kim MJ, Lim JY, Jung SM, Choi EJ, Chang
            IY, Kee Y, You HJ and Lee JH.
  TITLE     SIAH2 regulates DNA end resection and replication fork recovery by
            promoting CtIP ubiquitination
  JOURNAL   Nucleic Acids Res 50 (18), 10469-10486 (2022)
   PUBMED   36155803
  REMARK    GeneRIF: SIAH2 regulates DNA end resection and replication fork
            recovery by promoting CtIP ubiquitination.
REFERENCE   2  (residues 1 to 867)
  AUTHORS   Averbeck NB, Barent C, Jakob B, Syzonenko T, Durante M and
            Taucher-Scholz G.
  TITLE     The Ubiquitin Ligase RNF138 Cooperates with CtIP to Stimulate
            Resection of Complex DNA Double-Strand Breaks in Human G1-Phase
            Cells
  JOURNAL   Cells 11 (16), 2561 (2022)
   PUBMED   36010636
  REMARK    GeneRIF: The Ubiquitin Ligase RNF138 Cooperates with CtIP to
            Stimulate Resection of Complex DNA Double-Strand Breaks in Human
            G1-Phase Cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 867)
  AUTHORS   Liu M, Zhang Y, Wu Y, Jin J, Cao Y, Fang Z, Geng L, Yang L, Yu M,
            Bu Z, Ji Y, Shan H, Zou Z, Liu L, Wang Y, Zhang Y, Tong Y, Xu H,
            Lei H, Liu W, Gao F and Wu Y.
  TITLE     IKZF1 selectively enhances homologous recombination repair by
            interacting with CtIP and USP7 in multiple myeloma
  JOURNAL   Int J Biol Sci 18 (6), 2515-2526 (2022)
   PUBMED   35414773
  REMARK    GeneRIF: IKZF1 selectively enhances homologous recombination repair
            by interacting with CtIP and USP7 in multiple myeloma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 867)
  AUTHORS   Bolck HA, Przetocka S, Meier R, von Aesch C, Zurfluh C, Hanggi K,
            Spegg V, Altmeyer M, Stebler M, Norrelykke SF, Horvath P, Sartori
            AA and Porro A.
  TITLE     RNAi Screening Uncovers a Synthetic Sick Interaction between CtIP
            and the BARD1 Tumor Suppressor
  JOURNAL   Cells 11 (4), 643 (2022)
   PUBMED   35203293
  REMARK    GeneRIF: RNAi Screening Uncovers a Synthetic Sick Interaction
            between CtIP and the BARD1 Tumor Suppressor.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 867)
  AUTHORS   Wang J, Sheng Z, Dong Z, Wu Q and Cai Y.
  TITLE     The mechanism of radiotherapy for lung adenocarcinoma in promoting
            protein SIRT6-mediated deacetylation of RBBP8 to enhance the
            sensitivity of targeted therapy
  JOURNAL   Int J Immunopathol Pharmacol 36, 3946320221130727 (2022)
   PUBMED   36172813
  REMARK    GeneRIF: The mechanism of radiotherapy for lung adenocarcinoma in
            promoting protein SIRT6-mediated deacetylation of RBBP8 to enhance
            the sensitivity of targeted therapy.
REFERENCE   6  (residues 1 to 867)
  AUTHORS   Yu X, Wu LC, Bowcock AM, Aronheim A and Baer R.
  TITLE     The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP,
            a protein implicated in the CtBP pathway of transcriptional
            repression
  JOURNAL   J Biol Chem 273 (39), 25388-25392 (1998)
   PUBMED   9738006
REFERENCE   7  (residues 1 to 867)
  AUTHORS   Fusco C, Reymond A and Zervos AS.
  TITLE     Molecular cloning and characterization of a novel
            retinoblastoma-binding protein
  JOURNAL   Genomics 51 (3), 351-358 (1998)
   PUBMED   9721205
REFERENCE   8  (residues 1 to 867)
  AUTHORS   Schaeper U, Subramanian T, Lim L, Boyd JM and Chinnadurai G.
  TITLE     Interaction between a cellular protein that binds to the C-terminal
            region of adenovirus E1A (CtBP) and a novel cellular protein is
            disrupted by E1A through a conserved PLDLS motif
  JOURNAL   J Biol Chem 273 (15), 8549-8552 (1998)
   PUBMED   9535825
REFERENCE   9  (residues 1 to 867)
  AUTHORS   Matoba R, Okubo K, Hori N, Fukushima A and Matsubara K.
  TITLE     The addition of 5'-coding information to a 3'-directed cDNA library
            improves analysis of gene expression
  JOURNAL   Gene 146 (2), 199-207 (1994)
   PUBMED   8076819
REFERENCE   10 (residues 1 to 867)
  AUTHORS   Verloes,A., Drunat,S., Gressens,P. and Passemard,S.
  TITLE     Primary Autosomal Recessive Microcephalies and Seckel Syndrome
            Spectrum Disorders - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301772
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091147.15, BC001170.1,
            BX648221.1 and U72066.1.
            
            Summary: The protein encoded by this gene is a ubiquitously
            expressed nuclear protein. It is found among several proteins that
            bind directly to retinoblastoma protein, which regulates cell
            proliferation. This protein complexes with transcriptional
            co-repressor CTBP. It is also associated with BRCA1 and is thought
            to modulate the functions of BRCA1 in transcriptional regulation,
            DNA repair, and/or cell cycle checkpoint control. It is suggested
            that this gene may itself be a tumor suppressor acting in the same
            pathway as BRCA1. Three transcript variants encoding two different
            isoforms have been found for this gene. More transcript variants
            exist, but their full-length natures have not been determined.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            lacks an alternate exon compared to variant 1, that causes a
            frameshift. The resulting isoform (b) is shorter and has a distinct
            C-terminus compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX648221.1, SRR14038194.2191948.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..867
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q11.2"
     Protein         1..867
                     /product="DNA endonuclease RBBP8 isoform b"
                     /note="CTBP-interacting protein; DNA endonuclease RBBP8;
                     sporulation in the absence of SPO11 protein 2 homolog;
                     retinoblastoma binding protein 8; RBBP-8"
                     /calculated_mol_wt=98304
     Region          20..138
                     /region_name="CtIP_N"
                     /note="tumor-suppressor protein CtIP N-terminal domain;
                     pfam10482"
                     /db_xref="CDD:431306"
     CDS             1..867
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /coded_by="NM_203292.2:392..2995"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS11874.1"
                     /db_xref="GeneID:5932"
                     /db_xref="HGNC:HGNC:9891"
                     /db_xref="MIM:604124"
ORIGIN      
        1 mnisgsscgs pnsadtssdf kdlwtklkec hdrevqglqv kvtklkqeri ldaqrleeff
       61 tknqqlreqq kvlhetikvl edrlraglcd rcavteehmr kkqqefenir qqnlklitel
      121 mnerntlqee nkklseqlqq kiendqqhqa aeleceedvi pdspitafsf sgvnrlrrke
      181 nphvryieqt htklehsvca nemrkvskss thpqhnpnen eilvadtydq sqspmakahg
      241 tssytpdkss fnlatvvaet lglgvqeese tqgpmsplgd elyhclegnh kkqpfeestr
      301 ntedslrfsd stsktppqee lptrvsspvf gatssiksgl dlntslspsl lqpgkkkhlk
      361 tlpfsntcis rlektrskse dsalfthhsl gsevnkiiiq ssnkqilink niseslgeqn
      421 rteygkdsnt dkhleplksl ggrtskrkkt eeesehevsc pqasfdkena fpfpmdnqfs
      481 mngdcvmdkp ldlsdrfsai qrqeksqgse tsknkfrqvt lyealktipk gfsssrkasd
      541 gnctlpkdsp gepcsqecii lqplnkcspd nkpslqikee navfkiplrp resletenvl
      601 ddiksagshe pikiqtrsdh ggcelasvlq lnpcrtgkik slqnnqdvsf eniqwsidpg
      661 adlsqykmdv tvidtkdgsq sklggetvdm dctlvsetvl lkmkkqeqkg ekssneerkm
      721 ndsledmfdr ttheeyescl adsfsqaade eeelstatkk lhthgdkqdk vkqkafvepy
      781 fkgdesimqi cqqkkekrnw lpaqdtdsat fhpthqrifg klvflplrlv wkevilrkil
      841 ilvlvqkdvs lttqyflqka rsrrhrr
//
LOCUS       NP_001269554             572 aa            linear   PRI 24-MAR-2023
DEFINITION  lamin isoform C [Homo sapiens].
ACCESSION   NP_001269554
VERSION     NP_001269554.1
DBSOURCE    REFSEQ: accession NM_001282625.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 572)
  AUTHORS   McClintock D, Ratner D, Lokuge M, Owens DM, Gordon LB, Collins FS
            and Djabali K.
  TITLE     The mutant form of lamin A that causes Hutchinson-Gilford progeria
            is a biomarker of cellular aging in human skin
  JOURNAL   PLoS One 2 (12), e1269 (2007)
   PUBMED   18060063
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 572)
  AUTHORS   Scaffidi P and Misteli T.
  TITLE     Lamin A-dependent nuclear defects in human aging
  JOURNAL   Science 312 (5776), 1059-1063 (2006)
   PUBMED   16645051
  REMARK    GeneRIF: observations implicate lamin A in physiological aging
REFERENCE   3  (residues 1 to 572)
  AUTHORS   De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J,
            Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M and Levy
            N.
  TITLE     Lamin a truncation in Hutchinson-Gilford progeria
  JOURNAL   Science 300 (5628), 2055 (2003)
   PUBMED   12702809
  REMARK    GeneRIF: Hutchinson-Gilford progeria appears to represent a novel
            laminopathy, caused by a single heterozygous splicing mutation in
            the LMNA gene, leading to a major loss of Lamin A expression,
            intimately associated to nuclear alterations
REFERENCE   4  (residues 1 to 572)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     LMNA-Related Dilated Cardiomyopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301717
REFERENCE   5  (residues 1 to 572)
  AUTHORS   Bonne,G., Leturcq,F. and Ben Yaou,R.
  TITLE     Emery-Dreifuss Muscular Dystrophy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301609
REFERENCE   6  (residues 1 to 572)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   7  (residues 1 to 572)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   8  (residues 1 to 572)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
REFERENCE   9  (residues 1 to 572)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301468
REFERENCE   10 (residues 1 to 572)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301462
REFERENCE   11 (residues 1 to 572)
  AUTHORS   Gordon,L.B., Brown,W.T. and Collins,F.S.
  TITLE     Hutchinson-Gilford Progeria Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301300
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB270595.1, AK056143.1 and
            BC000511.2.
            
            Summary: The protein encoded by this gene is part of the nuclear
            lamina, a two-dimensional matrix of proteins located next to the
            inner nuclear membrane. The lamin family of proteins make up the
            matrix and are highly conserved in evolution. During mitosis, the
            lamina matrix is reversibly disassembled as the lamin proteins are
            phosphorylated. Lamin proteins are thought to be involved in
            nuclear stability, chromatin structure and gene expression.
            Vertebrate lamins consist of two types, A and B. Alternative
            splicing results in multiple transcript variants. Mutations in this
            gene lead to several diseases: Emery-Dreifuss muscular dystrophy,
            familial partial lipodystrophy, limb girdle muscular dystrophy,
            dilated cardiomyopathy, Charcot-Marie-Tooth disease, and
            Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May
            2022].
            
            Transcript Variant: This variant (6) differs in both UTRs and has
            multiple differences in the coding region compared to variant 1.
            This results in a shorter isoform (C) with a distinct C-terminus
            when compared to isoform prelamin A. Both variants 2 and 6 encode
            the same isoform (C).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056143.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..572
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     Protein         1..572
                     /product="lamin isoform C"
                     /note="lamin A/C-like 1; 70 kDa lamin; prelamin-A/C; lamin
                     C; renal carcinoma antigen NY-REN-32; mandibuloacral
                     dysplasia type A; epididymis secretory sperm binding
                     protein"
                     /calculated_mol_wt=65004
     Region          1..130
                     /region_name="Interaction with MLIP.
                     /evidence=ECO:0000269|PubMed:21498514"
                     /note="propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Region          1..33
                     /region_name="Head"
                     /note="propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Region          1..25
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            3
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            12
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            18
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            19
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Site            22
                     /site_type="phosphorylation"
                     /note="Phosphoserine. /evidence=ECO:0000269|Ref.9,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Region          30..386
                     /region_name="Filament"
                     /note="Intermediate filament protein; pfam00038"
                     /db_xref="CDD:425436"
     Site            32
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P48678; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Region          34..70
                     /region_name="Coil 1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Site            51
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            66
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Region          71..80
                     /region_name="Linker 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Site            71
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Region          81..218
                     /region_name="Coil 1B"
                     /note="propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Site            107
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            108
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            123
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P48678; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            135
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P48678; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            155
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P48678; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            171
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P48678; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            201
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P48678; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            212
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Region          219..242
                     /region_name="Linker 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Region          243..383
                     /region_name="Coil 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Region          259..331
                     /region_name="Necessary and sufficient for the interaction
                     with IFFO1. /evidence=ECO:0000269|PubMed:31548606"
                     /note="propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Site            260
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P48678; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            266
                     /site_type="other"
                     /note="Heptad change of phase; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            270
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            277
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            301
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            307
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            311
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            325
                     /site_type="other"
                     /note="Stutter. /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            330
                     /site_type="other"
                     /note="Heptad change of phase; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Region          384..442
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Site            390
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            392
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Site            395
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            398
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            403
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            404
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Site            407
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48678; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            414
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Region          417..422
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Site            429
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            431
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Region          434..541
                     /region_name="LTD"
                     /note="Lamin Tail Domain; pfam00932"
                     /db_xref="CDD:425951"
     Site            450
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            457
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P48678; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            458
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Site            463
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P02545.1)"
     Site            496
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P48679; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            505
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            510
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P48679; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            533
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            546
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48678; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            548
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P48678; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     Site            568
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48678; propagated from
                     UniProtKB/Swiss-Prot (P02545.1)"
     CDS             1..572
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /coded_by="NM_001282625.2:647..2365"
                     /note="isoform C is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS1131.1"
                     /db_xref="GeneID:4000"
                     /db_xref="HGNC:HGNC:6636"
                     /db_xref="MIM:150330"
ORIGIN      
        1 metpsqrrat rsgaqasstp lsptritrlq ekedlqelnd rlavyidrvr sletenaglr
       61 lriteseevv srevsgikaa yeaelgdark tldsvakera rlqlelskvr eefkelkarn
      121 tkkegdliaa qarlkdleal lnskeaalst alsekrtleg elhdlrgqva kleaalgeak
      181 kqlqdemlrr vdaenrlqtm keeldfqkni yseelretkr rhetrlveid ngkqrefesr
      241 ladalqelra qhedqveqyk kelektysak ldnarqsaer nsnlvgaahe elqqsririd
      301 slsaqlsqlq kqlaakeakl rdledslare rdtsrrllae keremaemra rmqqqldeyq
      361 elldiklald meihayrkll egeeerlrls psptsqrsrg rasshssqtq gggsvtkkrk
      421 lestesrssf sqhartsgrv aveevdeegk fvrlrnksne dqsmgnwqik rqngddpllt
      481 yrfppkftlk agqvvtiwaa gagathsppt dlvwkaqntw gcgnslrtal instgeevam
      541 rklvrsvtvv eddededgdd llhhhhvsgs rr
//
LOCUS       NP_001269423             632 aa            linear   PRI 24-MAR-2023
DEFINITION  golgin subfamily A member 8N [Homo sapiens].
ACCESSION   NP_001269423 XP_003959993 XP_003960629
VERSION     NP_001269423.1
DBSOURCE    REFSEQ: accession NM_001282494.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 632)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC123768.8.
            On or before Sep 12, 2013 this sequence version replaced
            XP_003959993.2, XP_003960629.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            CCDS Note: The exon combination of this CCDS representation is
            inferred. It is supported by partial transcript alignments and by
            paralogous golgin A8 family alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2783423.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000448387.7/ ENSP00000398454.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..632
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.3"
     Protein         1..632
                     /product="golgin subfamily A member 8N"
                     /calculated_mol_wt=71393
     Region          1..76
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (F8WBI6.1)"
     Region          <86..>290
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     Region          226..>479
                     /region_name="GOLGA2L5"
                     /note="Putative golgin subfamily A member 2-like protein
                     5; pfam15070"
                     /db_xref="CDD:434436"
     Region          423..445
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (F8WBI6.1)"
     Region          505..524
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (F8WBI6.1)"
     Region          552..573
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (F8WBI6.1)"
     Region          593..632
                     /region_name="GM130_C"
                     /note="GM130 C-terminal binding motif; pfam19046"
                     /db_xref="CDD:436918"
     CDS             1..632
                     /gene="GOLGA8N"
                     /gene_synonym="GOLGA8R"
                     /coded_by="NM_001282494.2:99..1997"
                     /db_xref="CCDS:CCDS61578.1"
                     /db_xref="GeneID:643699"
                     /db_xref="HGNC:HGNC:44405"
ORIGIN      
        1 maeetqhnkl aaakkklkey wqknrprvpa gvnrnrktng sipetatsgg cqppgdsatg
       61 fhregptssa tlkdlespcq eravvldsts vkisrlknti kslkqqkkqv ehqleeekka
      121 nnerqkaere levqiqtlii qkeelntdly hmerslryfe eeskdlavrl qhslqckgel
      181 esalsaviat ekkkanqlss cskahtewel eqslqdqall kaqltqlkes fqqlqlerde
      241 caehiegera rwhqrmskms qeictlkkek qqdmrrveel erslsklknq maeplppepp
      301 avpsevelqh lrkelervag elqsqvknnq hisllnrrqe erireqeerl rkqeerlqeq
      361 heklrqlakp qsvfeelnne nkstlqleqq vkelqeklge ehleaasqqn qqltaqlslm
      421 alpgeghgge hldsegeeap qpmpsvpedl esreamssfm dhlkekadls elvkkqelrf
      481 iqywqerchq kihhllsepg grakdaalgg ghhqagaqgg degeaagaaa dgiaaysnyn
      541 nghrkflaaa hnsadepgpg apapqelgaa dkhgdlrevt ltssaqgear edplldkpta
      601 qpivqdhqeh pglgsnccvp lfcwawlprr rr
//
LOCUS       NP_001361194             278 aa            linear   PRI 26-MAR-2023
DEFINITION  peroxisome proliferator-activated receptor gamma isoform 7 [Homo
            sapiens].
ACCESSION   NP_001361194
VERSION     NP_001361194.1
DBSOURCE    REFSEQ: accession NM_001374265.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 278)
  AUTHORS   Aibara D, Sakaguchi A and Matsusue K.
  TITLE     Oxysterol-binding protein-like 3 is a novel target gene of
            peroxisome proliferator-activated receptor gamma in fatty liver
            disease
  JOURNAL   Mol Cell Endocrinol 565, 111887 (2023)
   PUBMED   36781118
  REMARK    GeneRIF: Oxysterol-binding protein-like 3 is a novel target gene of
            peroxisome proliferator-activated receptor gamma in fatty liver
            disease.
REFERENCE   2  (residues 1 to 278)
  AUTHORS   Hartley A and Ahmad I.
  TITLE     The role of PPARgamma in prostate cancer development and
            progression
  JOURNAL   Br J Cancer 128 (6), 940-945 (2023)
   PUBMED   36510001
  REMARK    GeneRIF: The role of PPARgamma in prostate cancer development and
            progression.
            Review article
REFERENCE   3  (residues 1 to 278)
  AUTHORS   Gosseaume C, Fournier T, Jeru I, Vignaud ML, Missotte I,
            Archambeaud F, Debussche X, Droumaguet C, Feve B, Grillot S, Guerci
            B, Hieronimus S, Horsmans Y, Nobecourt E, Pienkowski C, Poitou C,
            Thissen JP, Lascols O, Degrelle S, Tsatsaris V, Vigouroux C and
            Vatier C.
  TITLE     Perinatal, metabolic, and reproductive features in PPARG-related
            lipodystrophy
  JOURNAL   Eur J Endocrinol 188 (3) (2023)
   PUBMED   36806620
  REMARK    GeneRIF: Perinatal, metabolic, and reproductive features in
            PPARG-related lipodystrophy.
REFERENCE   4  (residues 1 to 278)
  AUTHORS   Perez-Segura I, Santiago-Balmaseda A, Rodriguez-Hernandez LD,
            Morales-Martinez A, Martinez-Becerril HA, Martinez-Gomez PA,
            Delgado-Minjares KM, Salinas-Lara C, Martinez-Davila IA,
            Guerra-Crespo M, Perez-Severiano F and Soto-Rojas LO.
  TITLE     PPARs and Their Neuroprotective Effects in Parkinson's Disease: A
            Novel Therapeutic Approach in alpha-Synucleinopathy?
  JOURNAL   Int J Mol Sci 24 (4), 3264 (2023)
   PUBMED   36834679
  REMARK    GeneRIF: PPARs and Their Neuroprotective Effects in Parkinson's
            Disease: A Novel Therapeutic Approach in alpha-Synucleinopathy?
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 278)
  AUTHORS   Chen B, Wang Y, Tang W, Chen Y, Liu C, Kang M and Xie J.
  TITLE     Association between PPARgamma, PPARGC1A, and PPARGC1B genetic
            variants and susceptibility of gastric cancer in an Eastern Chinese
            population
  JOURNAL   BMC Med Genomics 15 (1), 274 (2022)
   PUBMED   36587194
  REMARK    GeneRIF: Association between PPARgamma, PPARGC1A, and PPARGC1B
            genetic variants and susceptibility of gastric cancer in an Eastern
            Chinese population.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 278)
  AUTHORS   Adams M, Reginato MJ, Shao D, Lazar MA and Chatterjee VK.
  TITLE     Transcriptional activation by peroxisome proliferator-activated
            receptor gamma is inhibited by phosphorylation at a consensus
            mitogen-activated protein kinase site
  JOURNAL   J Biol Chem 272 (8), 5128-5132 (1997)
   PUBMED   9030579
REFERENCE   7  (residues 1 to 278)
  AUTHORS   Elbrecht A, Chen Y, Cullinan CA, Hayes N, Leibowitz Md, Moller DE
            and Berger J.
  TITLE     Molecular cloning, expression and characterization of human
            peroxisome proliferator activated receptors gamma 1 and gamma 2
  JOURNAL   Biochem Biophys Res Commun 224 (2), 431-437 (1996)
   PUBMED   8702406
REFERENCE   8  (residues 1 to 278)
  AUTHORS   Greene ME, Blumberg B, McBride OW, Yi HF, Kronquist K, Kwan K,
            Hsieh L, Greene G and Nimer SD.
  TITLE     Isolation of the human peroxisome proliferator activated receptor
            gamma cDNA: expression in hematopoietic cells and chromosomal
            mapping
  JOURNAL   Gene Expr 4 (4-5), 281-299 (1995)
   PUBMED   7787419
REFERENCE   9  (residues 1 to 278)
  AUTHORS   Tontonoz P, Hu E and Spiegelman BM.
  TITLE     Stimulation of adipogenesis in fibroblasts by PPAR gamma 2, a
            lipid-activated transcription factor
  JOURNAL   Cell 79 (7), 1147-1156 (1994)
   PUBMED   8001151
  REMARK    Erratum:[Cell 1995 Mar 24;80(6):following 957]
REFERENCE   10 (residues 1 to 278)
  AUTHORS   Tontonoz P, Graves RA, Budavari AI, Erdjument-Bromage H, Lui M, Hu
            E, Tempst P and Spiegelman BM.
  TITLE     Adipocyte-specific transcription factor ARF6 is a heterodimeric
            complex of two nuclear hormone receptors, PPAR gamma and RXR alpha
  JOURNAL   Nucleic Acids Res 22 (25), 5628-5634 (1994)
   PUBMED   7838715
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093174.2 and AC090947.2.
            
            Summary: This gene encodes a member of the peroxisome
            proliferator-activated receptor (PPAR) subfamily of nuclear
            receptors. PPARs form heterodimers with retinoid X receptors (RXRs)
            and these heterodimers regulate transcription of various genes.
            Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and
            PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a
            regulator of adipocyte differentiation. Additionally, PPAR-gamma
            has been implicated in the pathology of numerous diseases including
            obesity, diabetes, atherosclerosis and cancer. Alternatively
            spliced transcript variants that encode different isoforms have
            been described. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: LS999979.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..278
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.2"
     Protein         1..278
                     /product="peroxisome proliferator-activated receptor gamma
                     isoform 7"
                     /note="nuclear receptor subfamily 1 group C member 3;
                     PPAR-gamma; peroxisome proliferator-activated
                     receptor-gamma 5; peroxisome proliferator-activated
                     receptor-gamma splicing"
                     /calculated_mol_wt=31343
     Region          31..108
                     /region_name="PPARgamma_N"
                     /note="PPAR gamma N-terminal region; pfam12577"
                     /db_xref="CDD:432648"
     Site            84
                     /site_type="glycosylation"
                     /note="O-linked (GlcNAc) threonine. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P37231.3)"
     Site            112
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P37231.3)"
     Region          138..221
                     /region_name="NR_DBD_Ppar"
                     /note="DNA-binding domain of peroxisome
                     proliferator-activated receptors (PPAR) is composed of two
                     C4-type zinc fingers; cd06965"
                     /db_xref="CDD:143523"
     Site            order(139,142,156,159,175,180,190,193)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143523"
     Site            order(147..151,157..158,160,162,164..165,168,187..188,191,
                     194,205,208..212,214)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143523"
     Site            order(185..186,188..189)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143523"
     Region          237..>273
                     /region_name="NR_LBD"
                     /note="The ligand binding domain of nuclear receptors, a
                     family of ligand-activated transcription regulators;
                     cl11397"
                     /db_xref="CDD:448242"
     CDS             1..278
                     /gene="PPARG"
                     /gene_synonym="CIMT1; GLM1; NR1C3; PPARG1; PPARG2; PPARG5;
                     PPARgamma"
                     /coded_by="NM_001374265.1:177..1013"
                     /note="isoform 7 is encoded by transcript variant 15"
                     /db_xref="CCDS:CCDS93212.1"
                     /db_xref="GeneID:5468"
                     /db_xref="HGNC:HGNC:9236"
                     /db_xref="MIM:601487"
ORIGIN      
        1 mgetlgdspi dpesdsftdt lsanisqemt mvdtempfwp tnfgissvdl svmedhshsf
       61 dikpfttvdf ssistphyed ipftrtdpvv adykydlklq eyqsaikvep asppyysekt
      121 qlynkpheep snslmaiecr vcgdkasgfh ygvhacegck gffrrtirlk liydrcdlnc
      181 rihkksrnkc qycrfqkcla vgmshnairf grmpqaekek llaeissdid qlnpesadlr
      241 alakhlydsy iksfpltkak arailtgktt dkstaqvc
//
LOCUS       NP_001158088             674 aa            linear   PRI 28-MAR-2023
DEFINITION  frizzled-6 isoform b [Homo sapiens].
ACCESSION   NP_001158088
VERSION     NP_001158088.1
DBSOURCE    REFSEQ: accession NM_001164616.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 674)
  AUTHORS   Dong B, Simonson L, Vold S, Oldham E, Barten L, Ahmad N and Chang
            H.
  TITLE     FZD6 Promotes Melanoma Cell Invasion but Not Proliferation by
            Regulating Canonical Wnt Signaling and Epithelial-Mesenchymal
            Transition
  JOURNAL   J Invest Dermatol 143 (4), 621-629 (2023)
   PUBMED   36368445
  REMARK    GeneRIF: FZD6 Promotes Melanoma Cell Invasion but Not Proliferation
            by Regulating Canonical Wnt Signaling and Epithelial-Mesenchymal
            Transition.
REFERENCE   2  (residues 1 to 674)
  AUTHORS   Cassaro A, Grillo G, Notaro M, Gliozzo J, Esposito I, Reda G,
            Trojani A, Valentini G, Di Camillo B, Cairoli R and Beghini A.
  TITLE     FZD6 triggers Wnt-signalling driven by WNT10BIVS1 expression and
            highlights new targets in T-cell acute lymphoblastic leukemia
  JOURNAL   Hematol Oncol 39 (3), 364-379 (2021)
   PUBMED   33497493
  REMARK    GeneRIF: FZD6 triggers Wnt-signalling driven by WNT10B(IVS1)
            expression and highlights new targets in T-cell acute lymphoblastic
            leukemia.
REFERENCE   3  (residues 1 to 674)
  AUTHORS   Sun S, Wang J, Liu J, Yin F, Xin C, Zeng X, Li J and Chen Q.
  TITLE     MiR-302b Suppresses Tumor Metastasis by Targeting Frizzled 6 in
            OSCC
  JOURNAL   J Dent Res 100 (7), 739-745 (2021)
   PUBMED   33478325
  REMARK    GeneRIF: MiR-302b Suppresses Tumor Metastasis by Targeting Frizzled
            6 in OSCC.
REFERENCE   4  (residues 1 to 674)
  AUTHORS   Wan X, Chen S, Fang Y, Zuo W, Cui J and Xie S.
  TITLE     Mesenchymal stem cell-derived extracellular vesicles suppress the
            fibroblast proliferation by downregulating FZD6 expression in
            fibroblasts via micrRNA-29b-3p in idiopathic pulmonary fibrosis
  JOURNAL   J Cell Physiol 235 (11), 8613-8625 (2020)
   PUBMED   32557673
  REMARK    GeneRIF: Mesenchymal stem cell-derived extracellular vesicles
            suppress the fibroblast proliferation by downregulating FZD6
            expression in fibroblasts via micrRNA-29b-3p in idiopathic
            pulmonary fibrosis.
REFERENCE   5  (residues 1 to 674)
  AUTHORS   Lyons JP, Mueller UW, Ji H, Everett C, Fang X, Hsieh JC, Barth AM
            and McCrea PD.
  TITLE     Wnt-4 activates the canonical beta-catenin-mediated Wnt pathway and
            binds Frizzled-6 CRD: functional implications of Wnt/beta-catenin
            activity in kidney epithelial cells
  JOURNAL   Exp Cell Res 298 (2), 369-387 (2004)
   PUBMED   15265686
REFERENCE   6  (residues 1 to 674)
  AUTHORS   Golan T, Yaniv A, Bafico A, Liu G and Gazit A.
  TITLE     The human Frizzled 6 (HFz6) acts as a negative regulator of the
            canonical Wnt. beta-catenin signaling cascade
  JOURNAL   J Biol Chem 279 (15), 14879-14888 (2004)
   PUBMED   14747478
  REMARK    GeneRIF: Frizzled 6 (HFz6) has a role as a negative regulator of
            the canonical Wnt. beta-catenin signaling cascade
REFERENCE   7  (residues 1 to 674)
  AUTHORS   Bafico A, Gazit A, Pramila T, Finch PW, Yaniv A and Aaronson SA.
  TITLE     Interaction of frizzled related protein (FRP) with Wnt ligands and
            the frizzled receptor suggests alternative mechanisms for FRP
            inhibition of Wnt signaling
  JOURNAL   J Biol Chem 274 (23), 16180-16187 (1999)
   PUBMED   10347172
REFERENCE   8  (residues 1 to 674)
  AUTHORS   Tokuhara M, Hirai M, Atomi Y, Terada M and Katoh M.
  TITLE     Molecular cloning of human Frizzled-6
  JOURNAL   Biochem Biophys Res Commun 243 (2), 622-627 (1998)
   PUBMED   9480858
  REMARK    Erratum:[Biochem Biophys Res Commun 1998 Jun 29;247(3):910]
REFERENCE   9  (residues 1 to 674)
  AUTHORS   Wang Y, Macke JP, Abella BS, Andreasson K, Worley P, Gilbert DJ,
            Copeland NG, Jenkins NA and Nathans J.
  TITLE     A large family of putative transmembrane receptors homologous to
            the product of the Drosophila tissue polarity gene frizzled
  JOURNAL   J Biol Chem 271 (8), 4468-4476 (1996)
   PUBMED   8626800
REFERENCE   10 (residues 1 to 674)
  AUTHORS   Leung AK and Robson WL.
  TITLE     Urinary tract infection in infancy and childhood
  JOURNAL   Adv Pediatr 38, 257-285 (1991)
   PUBMED   1927703
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025370.12.
            
            Summary: This gene represents a member of the 'frizzled' gene
            family, which encode 7-transmembrane domain proteins that are
            receptors for Wnt signaling proteins. The protein encoded by this
            family member contains a signal peptide, a cysteine-rich domain in
            the N-terminal extracellular region, and seven transmembrane
            domains, but unlike other family members, this protein does not
            contain a C-terminal PDZ domain-binding motif. This protein
            functions as a negative regulator of the canonical Wnt/beta-catenin
            signaling cascade, thereby inhibiting the processes that trigger
            oncogenic transformation, cell proliferation, and inhibition of
            apoptosis. Alternative splicing results in multiple transcript
            variants, some of which do not encode a protein with a predicted
            signal peptide.[provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (3) lacks a segment of the 5' UTR
            and 5' coding region, and uses a downstream translational start
            codon, compared to variant 1. The encoded isoform (b) is shorter at
            the N-terminus, compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK316544.1, AK299341.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..674
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.3"
     Protein         1..674
                     /product="frizzled-6 isoform b"
                     /note="frizzled 6, seven transmembrane spanning receptor;
                     seven transmembrane helix receptor; frizzled homolog 6;
                     frizzled family receptor 6"
                     /calculated_mol_wt=75449
     Region          1..114
                     /region_name="CRD_FZ6"
                     /note="Cysteine-rich Wnt-binding domain (CRD) of the
                     frizzled 6 (Fz6) receptor; cd07450"
                     /db_xref="CDD:143559"
     Site            order(1..3,5..7)
                     /site_type="other"
                     /note="putative Wnt binding site [polypeptide binding]"
                     /db_xref="CDD:143559"
     Region          156..476
                     /region_name="7tmF_FZD6"
                     /note="class F frizzled subfamily 6, member of
                     7-transmembrane G protein-coupled receptors; cd15032"
                     /db_xref="CDD:320160"
     Site            order(157,166,216,237,319,324,326,329..330,335,410,
                     413..414,439,444,447..448)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:320160"
     Region          165..190
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320160"
     Region          199..220
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320160"
     Region          251..277
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320160"
     Region          294..310
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320160"
     Region          332..361
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320160"
     Region          381..408
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320160"
     Region          437..462
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320160"
     CDS             1..674
                     /gene="FZD6"
                     /gene_synonym="FZ-6; FZ6; HFZ6; NDNC1; NDNC10"
                     /coded_by="NM_001164616.2:232..2256"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS55268.1"
                     /db_xref="GeneID:8323"
                     /db_xref="HGNC:HGNC:4044"
                     /db_xref="MIM:603409"
ORIGIN      
        1 mkmaynmtff pnlmghydqs iaavemehfl planlecspn ietflckafv ptcieqihvv
       61 ppcrklcekv ysdckklidt fgirwpeele cdrlqycdet vpvtfdphte flgpqkkteq
      121 vqrdigfwcp rhlktsggqg ykflgidqca ppcpnmyfks delefaksfi gtvsifclca
      181 tlftfltfli dvrrfryper piiyysvcys ivslmyfigf llgdstacnk adeklelgdt
      241 vvlgsqnkac tvlfmllyff tmagtvwwvi ltitwflaag rkwsceaieq kavwfhavaw
      301 gtpgfltvml lamnkvegdn isgvcfvgly dldasryfvl lplclcvfvg lslllagiis
      361 lnhvrqviqh dgrnqeklkk fmirigvfsg lylvplvtll gcyvyeqvnr itweitwvsd
      421 hcrqyhipcp yqakakarpe lalfmikylm tlivgisavf wvgskktcte wagffkrnrk
      481 rdpisesrrv lqescefflk hnskvkhkkk hykpsshklk visksmgtst gatanhgtsa
      541 vaitshdylg qetlteiqts petsmrevka dgastprlre qdcgepaspa asisrlsgeq
      601 vdgkgqagsv sesarsegri spksditdtg laqsnnlqvp sssepsslkg stsllvhpvs
      661 gvrkeqgggc hsdt
//
LOCUS       NP_001185517             893 aa            linear   PRI 29-OCT-2022
DEFINITION  JMJD7-PLA2G4B protein isoform b [Homo sapiens].
ACCESSION   NP_001185517
VERSION     NP_001185517.1
DBSOURCE    REFSEQ: accession NM_001198588.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 893)
  AUTHORS   Prakash T, Sharma VK, Adati N, Ozawa R, Kumar N, Nishida Y,
            Fujikake T, Takeda T and Taylor TD.
  TITLE     Expression of conjoined genes: another mechanism for gene
            regulation in eukaryotes
  JOURNAL   PLoS One 5 (10), e13284 (2010)
   PUBMED   20967262
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 893)
  AUTHORS   Ghosh M, Loper R, Gelb MH and Leslie CC.
  TITLE     Identification of the expressed form of human cytosolic
            phospholipase A2beta (cPLA2beta): cPLA2beta3 is a novel variant
            localized to mitochondria and early endosomes
  JOURNAL   J Biol Chem 281 (24), 16615-16624 (2006)
   PUBMED   16617059
REFERENCE   3  (residues 1 to 893)
  AUTHORS   Tao R, Yu Y, Zhang X, Guo Y, Shi J, Zhang X, Xie L, Liu S, Ju G, Xu
            Q, Shen Y and Wei J.
  TITLE     Cytosolic PLA2 genes possibly contribute to the etiology of
            schizophrenia
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 137B (1), 56-58 (2005)
   PUBMED   15999343
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 893)
  AUTHORS   Morris DW, Ivanov D, Robinson L, Williams N, Stevenson J, Owen MJ,
            Williams J and O'Donovan MC.
  TITLE     Association analysis of two candidate phospholipase genes that map
            to the chromosome 15q15.1-15.3 region associated with reading
            disability
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 129B (1), 97-103 (2004)
   PUBMED   15274049
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 893)
  AUTHORS   Degousee N, Ghomashchi F, Stefanski E, Singer A, Smart BP,
            Borregaard N, Reithmeier R, Lindsay TF, Lichtenberger C, Reinisch
            W, Lambeau G, Arm J, Tischfield J, Gelb MH and Rubin BB.
  TITLE     Groups IV, V, and X phospholipases A2s in human neutrophils: role
            in eicosanoid production and gram-negative bacterial phospholipid
            hydrolysis
  JOURNAL   J Biol Chem 277 (7), 5061-5073 (2002)
   PUBMED   11741884
  REMARK    GeneRIF: circulating human neutrophils express groups V and X
            sPLA(2) (GV and GX sPLA(2)) mRNA and contain GV and GX sPLA(2)
            proteins, whereas GIB, GIIA, GIID, GIIE, GIIF, GIII, and GXII
            sPLA(2)s are undetectable
REFERENCE   6  (residues 1 to 893)
  AUTHORS   Song C, Chang XJ, Bean KM, Proia MS, Knopf JL and Kriz RW.
  TITLE     Molecular characterization of cytosolic phospholipase A2-beta
  JOURNAL   J Biol Chem 274 (24), 17063-17067 (1999)
   PUBMED   10358058
REFERENCE   7  (residues 1 to 893)
  AUTHORS   Pickard RT, Strifler BA, Kramer RM and Sharp JD.
  TITLE     Molecular cloning of two new human paralogs of 85-kDa cytosolic
            phospholipase A2
  JOURNAL   J Biol Chem 274 (13), 8823-8831 (1999)
   PUBMED   10085124
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA096882.1, DQ523799.1,
            AC020659.5 and BC013415.2.
            
            Summary: This locus represents naturally-occurring readthrough
            transcription between the neighboring jumonji domain containing 7
            (JMJD7) and phospholipase A2, group IVB (cytosolic) (PLA2G4B)
            genes. Readthrough transcripts encode fusion proteins that share
            amino acid sequence with each individual gene product, including a
            partial JmjC domain and downstream C2 and phospholipase A2 domains.
            Alternatively spliced transcript variants have been observed.
            [provided by RefSeq, Oct 2013].
            
            Transcript Variant: This variant (3, also known as cPLA2 beta2)
            lacks an alternate exon resulting in a frameshift in the 3' coding
            region, compared to variant 1. The encoded isoform (b) has a
            distinct and shorter C-terminus, compared to isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ523799.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            readthrough transcript :: includes exons from GeneID 100137047,
                                      100137049
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..893
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     Protein         1..893
                     /product="JMJD7-PLA2G4B protein isoform b"
                     /note="jumonji domain containing 7-phospholipase A2, group
                     IVB (cytosolic) read-through"
                     /calculated_mol_wt=100386
     Region          38..>223
                     /region_name="Cupin_8"
                     /note="Cupin-like domain; pfam13621"
                     /db_xref="CDD:433355"
     Region          242..361
                     /region_name="C2_cPLA2"
                     /note="C2 domain present in cytosolic PhosphoLipase A2
                     (cPLA2); cd04036"
                     /db_xref="CDD:176001"
     Site            order(260,263,285,313,315)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176001"
     Region          382..473
                     /region_name="cPLA2_C2"
                     /note="Cytosolic phospholipases A2 C2-domain; pfam18695"
                     /db_xref="CDD:436669"
     Region          474..>880
                     /region_name="Patatin_and_cPLA2"
                     /note="Patatins and Phospholipases; cl11396"
                     /db_xref="CDD:416256"
     Site            order(535..536,538,566,846)
                     /site_type="active"
                     /db_xref="CDD:132836"
     Site            564..568
                     /site_type="other"
                     /note="nucleophile elbow"
                     /db_xref="CDD:132836"
     CDS             1..893
                     /gene="JMJD7-PLA2G4B"
                     /gene_synonym="cPLA2-beta; HsT16992"
                     /coded_by="NM_001198588.2:34..2715"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="GeneID:8681"
                     /db_xref="HGNC:HGNC:34449"
ORIGIN      
        1 maeaaleavr selrefpaaa relcvplavp yldkpptplh fyrdwvcpnr pciirnalqh
       61 wpalqkwslp yfratvgste vsvavtpdgy adavrgdrfm mpaerrlpls fvldvlegra
      121 qhpgvlyvqk qcsnlpselp qllpdleshv pwasealgkm pdavnfwlge aaavtslhkd
      181 hyenlycvvs gekhflfhpp sdrpfipyel ytpatyqlte egtfkvvdee amekaevsrt
      241 clltvrvlqa hrlpskdlvt psdcyvtlwl ptacshrlqt rtvknssspv wnqsfhfrih
      301 rqlknvmelk vfdqdlvtgd dpvlsvlfda gtlragefrr esfslspqge grlevefrlq
      361 sladrgewlv sngvlvarel sclhvqleet gdqkssehrv qlvvpgsceg pqeasvgtgt
      421 frfhcpacwe qelsirlqda peeqlkapls alpsgqvvrl vfptsqeplm rvelkkeagl
      481 relavrlgfg pcaeeqafls rrkqvvaaal rqalqldgdl qedeipvvai matgggiram
      541 tslygqlagl kelglldcvs yitgasgstw alanlyedpe wsqkdlagpt ellktqvtkn
      601 klgvlapsql qryrqelaer arlgypscft nlwalineal lhdephdhkl sdqrealshg
      661 qnplpiycal ntkgqslttf efgewcefsp yevgfpkyga fipselfgse ffmgqlmkrl
      721 pesricfleg iwsnlyaanl qdslywasep sqfwdrwvrn qanldkeqvp llkieeppst
      781 agriaefftd lltwrplaqa thnflrglhf hkdyfqhphf stwkattldg lpnqltpsep
      841 hlclldvgyl intsclpllq ptrdvdlils ldynlhgafq gsgghprrrq lgr
//
LOCUS       NP_006198                375 aa            linear   PRI 17-DEC-2022
DEFINITION  platelet-derived growth factor receptor-like protein precursor
            [Homo sapiens].
ACCESSION   NP_006198
VERSION     NP_006198.1
DBSOURCE    REFSEQ: accession NM_006207.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 375)
  AUTHORS   Xie T, Deng L, Mei P, Zhou Y, Wang B, Zhang J, Lin J, Wei Y, Zhang
            X and Xu R.
  TITLE     Genome-wide association study combining pathway analysis for
            typical sporadic amyotrophic lateral sclerosis in Chinese Han
            populations
  JOURNAL   Neurobiol Aging 35 (7), 1778 (2014)
   PUBMED   24529757
REFERENCE   2  (residues 1 to 375)
  AUTHORS   Gialeli C, Nikitovic D, Kletsas D, Theocharis AD, Tzanakakis GN and
            Karamanos NK.
  TITLE     PDGF/PDGFR signaling and targeting in cancer growth and
            progression: Focus on tumor microenvironment and cancer-associated
            fibroblasts
  JOURNAL   Curr Pharm Des 20 (17), 2843-2848 (2014)
   PUBMED   23944365
  REMARK    GeneRIF: review elucidates the role of tumor stroma interactions,
            the roles of PDGF receptor signaling in cancer-associated
            fibroblasts via alteration of stromal matrix composition and the
            mitogenic effects of cancer-derived PDGFs.
            Review article
REFERENCE   3  (residues 1 to 375)
  AUTHORS   Deng X, Sabino EC, Cunha-Neto E, Ribeiro AL, Ianni B, Mady C, Busch
            MP and Seielstad M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 375)
  AUTHORS   Hou S, Xiao X, Zhou Y, Zhu X, Li F, Kijlstra A and Yang P.
  TITLE     Genetic variant on PDGFRL associated with Behcet disease in Chinese
            Han populations
  JOURNAL   Hum Mutat 34 (1), 74-78 (2013)
   PUBMED   22926996
  REMARK    GeneRIF: Data indicate the association between SNP rs17633132:C/T
            in PDGFRL with Behcet disease and suggest that the PDGFRL gene may
            be involved in Behcet disease by modulating its transcription.
REFERENCE   5  (residues 1 to 375)
  AUTHORS   Guo FJ, Zhang WJ, Li YL, Liu Y, Li YH, Huang J, Wang JJ, Xie PL and
            Li GC.
  TITLE     Expression and functional characterization of platelet-derived
            growth factor receptor-like gene
  JOURNAL   World J Gastroenterol 16 (12), 1465-1472 (2010)
   PUBMED   20333786
  REMARK    GeneRIF: Results indicate that PDGFRL functions as a tumor
            suppressor, inhibiting the growth of colorectal cancer cells.
REFERENCE   6  (residues 1 to 375)
  AUTHORS   Seitz S, Korsching E, Weimer J, Jacobsen A, Arnold N, Meindl A,
            Arnold W, Gustavus D, Klebig C, Petersen I and Scherneck S.
  TITLE     Genetic background of different cancer cell lines influences the
            gene set involved in chromosome 8 mediated breast tumor suppression
  JOURNAL   Genes Chromosomes Cancer 45 (6), 612-627 (2006)
   PUBMED   16552773
REFERENCE   7  (residues 1 to 375)
  AUTHORS   Pils D, Horak P, Gleiss A, Sax C, Fabjani G, Moebus VJ, Zielinski
            C, Reinthaller A, Zeillinger R and Krainer M.
  TITLE     Five genes from chromosomal band 8p22 are significantly
            down-regulated in ovarian carcinoma: N33 and EFA6R have a potential
            impact on overall survival
  JOURNAL   Cancer 104 (11), 2417-2429 (2005)
   PUBMED   16270321
REFERENCE   8  (residues 1 to 375)
  AUTHORS   Bo H, Ghazizadeh M, Shimizu H, Kurihara Y, Egawa S, Moriyama Y,
            Tajiri T and Kawanami O.
  TITLE     Effect of ionizing irradiation on human esophageal cancer cell
            lines by cDNA microarray gene expression analysis
  JOURNAL   J Nippon Med Sch 71 (3), 172-180 (2004)
   PUBMED   15226608
REFERENCE   9  (residues 1 to 375)
  AUTHORS   Fujiwara Y, Ohata H, Kuroki T, Koyama K, Tsuchiya E, Monden M and
            Nakamura Y.
  TITLE     Isolation of a candidate tumor suppressor gene on chromosome
            8p21.3-p22 that is homologous to an extracellular domain of the
            PDGF receptor beta gene
  JOURNAL   Oncogene 10 (5), 891-895 (1995)
   PUBMED   7898930
REFERENCE   10 (residues 1 to 375)
  AUTHORS   Fujiwara Y, Ohata H, Emi M, Okui K, Koyama K, Tsuchiya E, Nakajima
            T, Monden M, Mori T, Kurimasa A et al.
  TITLE     A 3-Mb physical map of the chromosome region 8p21.3-p22, including
            a 600-kb region commonly deleted in human hepatocellular carcinoma,
            colorectal cancer, and non-small cell lung cancer
  JOURNAL   Genes Chromosomes Cancer 10 (1), 7-14 (1994)
   PUBMED   7519877
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK289450.1, AC124069.7 and
            BQ446405.1.
            
            Summary: This gene encodes a protein with significant sequence
            similarity to the ligand binding domain of platelet-derived growth
            factor receptor beta. Mutations in this gene, or deletion of a
            chromosomal segment containing this gene, are associated with
            sporadic hepatocellular carcinomas, colorectal cancers, and
            non-small cell lung cancers. This suggests this gene product may
            function as a tumor suppressor. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK289450.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467143 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22"
     Protein         1..375
                     /product="platelet-derived growth factor receptor-like
                     protein precursor"
                     /note="platelet-derived growth factor-beta-like tumor
                     suppressor; platelet-derived growth factor receptor-like
                     protein; PDGFR-like protein; PDGF receptor beta-like tumor
                     suppressor"
                     /calculated_mol_wt=39529
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2350
     mat_peptide     22..375
                     /product="Platelet-derived growth factor receptor-like
                     protein. /id=PRO_0000233090"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15198.1)"
                     /calculated_mol_wt=39529
     Region          22..64
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15198.1)"
     Region          83..145
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Site            132
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15198.1)"
     Site            219
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15198.1)"
     Region          278..372
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          289..293
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          304..308
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          340..344
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          354..359
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          367..370
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..375
                     /gene="PDGFRL"
                     /gene_synonym="PDGRL; PRLTS"
                     /coded_by="NM_006207.2:446..1573"
                     /db_xref="CCDS:CCDS6003.1"
                     /db_xref="GeneID:5157"
                     /db_xref="HGNC:HGNC:8805"
                     /db_xref="MIM:604584"
ORIGIN      
        1 mkvwlllgll lvhealedvt gqhlpknkrp kepgenrikp tnkkvkpkip kmkdrdsans
       61 apktqsimmq vldkgrfqkp aatlsllagq tvelrckgsr igwsypayld tfkdsrlsvk
      121 qnerygqltl vnstsadtge fscwvqlcsg yicrkdeakt gstyifftek gelfvpspsy
      181 fdvvylnpdr qavvpcrvtv lsakvtlhre fpakeipang tdivydmkrg fvylqphseh
      241 qgvvycraea ggrsqisvky qllyvavpsg ppsttilass nkvksgddis vlctvlgepd
      301 veveftwifp gqkderpvti qdtwrlihrg lghttrisqs vitvedfeti dagyyictaq
      361 nlqgqttvat tvefs
//
LOCUS       NP_001242940             682 aa            linear   PRI 17-DEC-2022
DEFINITION  calcium-independent phospholipase A2-gamma isoform 3 [Homo
            sapiens].
ACCESSION   NP_001242940
VERSION     NP_001242940.1
DBSOURCE    REFSEQ: accession NM_001256011.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 682)
  AUTHORS   Liu X, Sims HF, Jenkins CM, Guan S, Dilthey BG and Gross RW.
  TITLE     12-LOX catalyzes the oxidation of 2-arachidonoyl-lysolipids in
            platelets generating eicosanoid-lysolipids that are attenuated by
            iPLA2gamma knockout
  JOURNAL   J Biol Chem 295 (16), 5307-5320 (2020)
   PUBMED   32161117
  REMARK    GeneRIF: 12-LOX catalyzes the oxidation of
            2-arachidonoyl-lysolipids in platelets generating
            eicosanoid-lysolipids that are attenuated by iPLA2gamma knockout.
REFERENCE   2  (residues 1 to 682)
  AUTHORS   Shukla A, Saneto RP, Hebbar M, Mirzaa G and Girisha KM.
  TITLE     A neurodegenerative mitochondrial disease phenotype due to
            biallelic loss-of-function variants in PNPLA8 encoding
            calcium-independent phospholipase A2gamma
  JOURNAL   Am J Med Genet A 176 (5), 1232-1237 (2018)
   PUBMED   29681094
  REMARK    GeneRIF: we report two unrelated individuals with variable but
            similar clinical features of microcephaly, severe global
            developmental delay, spasticity, lactic acidosis, and progressive
            cerebellar atrophy with biallelic loss-of-function variants in
            PNPLA8.
REFERENCE   3  (residues 1 to 682)
  AUTHORS   Moon SH, Liu X, Cedars AM, Yang K, Kiebish MA, Joseph SM, Kelley J,
            Jenkins CM and Gross RW.
  TITLE     Heart failure-induced activation of phospholipase iPLA2gamma
            generates hydroxyeicosatetraenoic acids opening the mitochondrial
            permeability transition pore
  JOURNAL   J Biol Chem 293 (1), 115-129 (2018)
   PUBMED   29158256
  REMARK    GeneRIF: Stable isotope kinetics revealed that in non-failing human
            hearts, cPLA2zeta metabolically channels arachidonic acid into
            EETs, whereas in failing hearts, increased iPLA2gamma activity
            channels AA into toxic HETEs. These results mechanistically
            identify the sequelae of pathological remodeling of human
            mitochondrial phospholipases in failing myocardium.
REFERENCE   4  (residues 1 to 682)
  AUTHORS   Liu GY, Moon SH, Jenkins CM, Li M, Sims HF, Guan S and Gross RW.
  TITLE     The phospholipase iPLA2gamma is a major mediator releasing oxidized
            aliphatic chains from cardiolipin, integrating mitochondrial
            bioenergetics and signaling
  JOURNAL   J Biol Chem 292 (25), 10672-10684 (2017)
   PUBMED   28442572
REFERENCE   5  (residues 1 to 682)
  AUTHORS   Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB,
            Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M,
            Kingsmore SF and Gross RW.
  TITLE     Loss of function variants in human PNPLA8 encoding
            calcium-independent phospholipase A2 gamma recapitulate the
            mitochondriopathy of the homologous null mouse
  JOURNAL   Hum Mutat 36 (3), 301-306 (2015)
   PUBMED   25512002
  REMARK    Erratum:[Hum Mutat. 2015 Jun;36(6):656]
REFERENCE   6  (residues 1 to 682)
  AUTHORS   Yan W, Jenkins CM, Han X, Mancuso DJ, Sims HF, Yang K and Gross RW.
  TITLE     The highly selective production of 2-arachidonoyl
            lysophosphatidylcholine catalyzed by purified calcium-independent
            phospholipase A2gamma: identification of a novel enzymatic mediator
            for the generation of a key branch point intermediate in eicosanoid
            signaling
  JOURNAL   J Biol Chem 280 (29), 26669-26679 (2005)
   PUBMED   15908428
REFERENCE   7  (residues 1 to 682)
  AUTHORS   Murakami M, Masuda S, Ueda-Semmyo K, Yoda E, Kuwata H, Takanezawa
            Y, Aoki J, Arai H, Sumimoto H, Ishikawa Y, Ishii T, Nakatani Y and
            Kudo I.
  TITLE     Group VIB Ca2+-independent phospholipase A2gamma promotes cellular
            membrane hydrolysis and prostaglandin production in a manner
            distinct from other intracellular phospholipases A2
  JOURNAL   J Biol Chem 280 (14), 14028-14041 (2005)
   PUBMED   15695510
  REMARK    GeneRIF: These results suggest distinct roles for iPLA2beta and
            iPLA2gamma in cellular homeostasis and signaling, a functional link
            between peroxisomal AA release and eicosanoid generation, and a
            potential contribution of iPLA2gamma to tumorigenesis.
REFERENCE   8  (residues 1 to 682)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   9  (residues 1 to 682)
  AUTHORS   Tanaka H, Takeya R and Sumimoto H.
  TITLE     A novel intracellular membrane-bound calcium-independent
            phospholipase A(2)
  JOURNAL   Biochem Biophys Res Commun 272 (2), 320-326 (2000)
   PUBMED   10833412
REFERENCE   10 (residues 1 to 682)
  AUTHORS   Mancuso DJ, Jenkins CM and Gross RW.
  TITLE     The genomic organization, complete mRNA sequence, cloning, and
            expression of a novel human intracellular membrane-associated
            calcium-independent phospholipase A(2)
  JOURNAL   J Biol Chem 275 (14), 9937-9945 (2000)
   PUBMED   10744668
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005058.1, AK024335.1,
            N57453.1, BC032999.2, AL834147.1 and DW410822.1.
            
            Summary: This gene encodes a member of the patatin-like
            phospholipase domain containing protein family. Members of this
            family are phospholipases which catalyze the cleavage of fatty
            acids from membrane phospholipids. The product of this gene is a
            calcium-independent phospholipase. Mutations in this gene have been
            associated with mitochondrial myopathy with lactic acidosis.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, May 2015].
            
            Transcript Variant: This variant (6) differs in the 5' UTR and
            coding region and uses a downstream start codon compared to variant
            1. The resulting protein (isoform 3) has a shorter N-terminus
            compared to isoform 1. Variants 5 and 6 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK024335.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..682
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.1"
     Protein         1..682
                     /product="calcium-independent phospholipase A2-gamma
                     isoform 3"
                     /EC_number="3.1.1.5"
                     /note="intracellular membrane-associated
                     calcium-independent phospholipase A2 gamma"
                     /calculated_mol_wt=76901
     Region          335..641
                     /region_name="Pat_PNPLA8"
                     /note="Patatin-like phospholipase domain containing
                     protein 8; cd07211"
                     /db_xref="CDD:132850"
     Site            order(350..351,353,383,527)
                     /site_type="active"
                     /db_xref="CDD:132850"
     Site            381..385
                     /site_type="other"
                     /note="nucleophile elbow"
                     /db_xref="CDD:132850"
     CDS             1..682
                     /gene="PNPLA8"
                     /gene_synonym="IPLA2-2; IPLA2G; iPLA2gamma; MMLA;
                     PNPLA-gamma"
                     /coded_by="NM_001256011.3:425..2473"
                     /note="isoform 3 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS59075.1"
                     /db_xref="GeneID:50640"
                     /db_xref="HGNC:HGNC:28900"
                     /db_xref="MIM:612123"
ORIGIN      
        1 msrikstlns vskavfgnqn emisrlaqfk pssqilrkvs dsgwlkqkni kqaikslkky
       61 sdksaekspf peekshiidk eedigkrslf hytssittkf gdsfyflsnh insyfkrkek
      121 msqqkenehf rdkseledkk veegklrspd pgilaykpgs esvhtvdkpt spsaipdvlq
      181 vstkqsianf lsrptegvqa lvggyigglv pklkydsksq seeqeepakt dqavskdrna
      241 eekkrlslqr ekiiarvsid nrtralvqal rrttdpklci trveeltfhl lefpegkgva
      301 vkeriipyll rlrqikdetl qaavreilal igyvdpvkgr girilsidgg gtrgvvalqt
      361 lrklveltqk pvhqlfdyic gvstgailaf mlglfhmpld eceelyrklg sdvfsqnviv
      421 gtvkmswsha fydsqtweni lkdrmgsalm ietarnptcp kvaavstivn rgitpkafvf
      481 rnyghfpgin shylggcqyk mwqairassa apgyfaeyal gndlhqdggl llnnpsalam
      541 heckclwpdv plecivslgt gryesdvrnt vtytslktkl snvinsatdt eevhimldgl
      601 lppdtyfrfn pvmcenipld esrnekldql qleglkyier neqkmkkvak ilsqekttlq
      661 kindwiklkt dmyeglpffs kl
//
LOCUS       NP_001025062             254 aa            linear   PRI 17-DEC-2022
DEFINITION  phosphoglycerate mutase 4 [Homo sapiens].
ACCESSION   NP_001025062 NP_001019630 XP_497185
VERSION     NP_001025062.1
DBSOURCE    REFSEQ: accession NM_001029891.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 254)
  AUTHORS   Jin Q, Pan H, Wang B, Wang J, Liu T, Yu X, Jia C, Fang X, Peng Y
            and Ma X.
  TITLE     The PGAM4 gene in non-obstructive azoospermia
  JOURNAL   Syst Biol Reprod Med 59 (4), 179-183 (2013)
   PUBMED   23631659
  REMARK    GeneRIF: PGAM4 coding region mutations were not observed and the
            G75C polymorphism is not associated with non-obstructive
            azoospermia susceptibility among the Chinese Han population.
REFERENCE   2  (residues 1 to 254)
  AUTHORS   Okuda H, Tsujimura A, Irie S, Yamamoto K, Fukuhara S, Matsuoka Y,
            Takao T, Miyagawa Y, Nonomura N, Wada M and Tanaka H.
  TITLE     A single nucleotide polymorphism within the novel sex-linked
            testis-specific retrotransposed PGAM4 gene influences human male
            fertility
  JOURNAL   PLoS One 7 (5), e35195 (2012)
   PUBMED   22590500
  REMARK    GeneRIF: PGAM4, an X-linked retrogene, is a fundamental gene in
            human male reproduction and may escape meiotic sex chromosome
            inactivation.
REFERENCE   3  (residues 1 to 254)
  AUTHORS   Kim SC, Sprung R, Chen Y, Xu Y, Ball H, Pei J, Cheng T, Kho Y, Xiao
            H, Xiao L, Grishin NV, White M, Yang XJ and Zhao Y.
  TITLE     Substrate and functional diversity of lysine acetylation revealed
            by a proteomics survey
  JOURNAL   Mol Cell 23 (4), 607-618 (2006)
   PUBMED   16916647
REFERENCE   4  (residues 1 to 254)
  AUTHORS   Marques AC, Dupanloup I, Vinckenbosch N, Reymond A and Kaessmann H.
  TITLE     Emergence of young human genes after a burst of retroposition in
            primates
  JOURNAL   PLoS Biol 3 (11), e357 (2005)
   PUBMED   16201836
REFERENCE   5  (residues 1 to 254)
  AUTHORS   Betran E, Wang W, Jin L and Long M.
  TITLE     Evolution of the phosphoglycerate mutase processed gene in human
            and chimpanzee revealing the origin of a new primate gene
  JOURNAL   Mol Biol Evol 19 (5), 654-663 (2002)
   PUBMED   11961099
REFERENCE   6  (residues 1 to 254)
  AUTHORS   Dierick HA, Mercer JF and Glover TW.
  TITLE     A phosphoglycerate mutase brain isoform (PGAM 1) pseudogene is
            localized within the human Menkes disease gene (ATP7 A)
  JOURNAL   Gene 198 (1-2), 37-41 (1997)
   PUBMED   9370262
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF465731.1, U76194.1,
            BG875904.1 and AL772330.3.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Jan 5, 2006 this sequence version replaced
            NP_001019630.1, XP_497185.1.
            
            Summary: This intronless gene appears to have arisen from a
            retrotransposition event, yet it is thought to be an expressed,
            protein-coding gene. The encoded protein is a member of the
            phosphoglycerate mutase family, a set of enzymes that catalyze the
            transfer of a phosphate group from 3-phosphoglycerate to
            2-phosphoglycerate. [provided by RefSeq, May 2010].
            
            ##Evidence-Data-START##
            Transcript is intronless :: BX365308.2, BF304193.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000458128.3/ ENSP00000412189.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..254
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.1"
     Protein         1..254
                     /product="phosphoglycerate mutase 4"
                     /EC_number="5.4.2.4"
                     /EC_number="5.4.2.11"
                     /note="probable phosphoglycerate mutase 4;
                     phosphoglycerate mutase family 3; phosphoglycerate mutase
                     processed protein"
                     /calculated_mol_wt=28646
     Region          4..253
                     /region_name="gpmA"
                     /note="2,3-diphosphoglycerate-dependent phosphoglycerate
                     mutase; PRK14115"
                     /db_xref="CDD:184516"
     Site            order(10..11,62,186..187)
                     /site_type="active"
                     /note="catalytic core [active]"
                     /db_xref="CDD:132718"
     Site            14
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P18669; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1)"
     Site            23
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P18669; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1)"
     Site            26
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P18669; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1)"
     Site            31
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P18669; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1)"
     Site            106
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9DBJ1; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1)"
     Site            118
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9DBJ1; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1)"
     Site            186
                     /site_type="other"
                     /note="Transition state stabilizer.
                     /evidence=ECO:0000250|UniProtKB:P00950; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1)"
     Site            251
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P18669; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1)"
     Site            253
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P18669; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1)"
     Site            254
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P18669; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1)"
     CDS             1..254
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /coded_by="NM_001029891.3:1..765"
                     /db_xref="CCDS:CCDS35338.1"
                     /db_xref="GeneID:441531"
                     /db_xref="HGNC:HGNC:21731"
                     /db_xref="MIM:300567"
ORIGIN      
        1 maayklvlir hgestwnlen rfscwydadl spagheeakr ggqalrdagy efdicltsvq
       61 krvirtlwtv ldaidqmwlp vvrtwrlner hyggltglnk aetaakhgea qvkiwrrsyd
      121 vppppmepdh pfysniskdr ryadltedql psyespkdti aralpfwnee ivpqikegkr
      181 vliaahgnsl qgiakhvegl seeaimelnl ptgipivyel dknlkpikpm qflgdeetvc
      241 kaieavaaqg kakk
//
LOCUS       NP_001335590              77 aa            linear   PRI 18-DEC-2022
DEFINITION  UPF0547 protein C16orf87 isoform 3 [Homo sapiens].
ACCESSION   NP_001335590
VERSION     NP_001335590.1
DBSOURCE    REFSEQ: accession NM_001348661.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 77)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 77)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 77)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (residues 1 to 77)
  AUTHORS   Joshi P, Greco TM, Guise AJ, Luo Y, Yu F, Nesvizhskii AI and
            Cristea IM.
  TITLE     The functional interactome landscape of the human histone
            deacetylase family
  JOURNAL   Mol Syst Biol 9, 672 (2013)
   PUBMED   23752268
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007225.2.
            
            Transcript Variant: This variant (3) lacks an alternate exon and
            contains another alternate exon compared to variant 1. The
            resulting isoform (3) has a shorter and distinct C-terminus
            compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.711245.1,
                                           DRR138524.453500.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..77
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q11.2"
     Protein         1..77
                     /product="UPF0547 protein C16orf87 isoform 3"
                     /note="UPF0547 protein C16orf87"
                     /calculated_mol_wt=8358
     Region          14..38
                     /region_name="UPF0547"
                     /note="Uncharacterized protein family UPF0547; pfam10571"
                     /db_xref="CDD:402278"
     CDS             1..77
                     /gene="C16orf87"
                     /coded_by="NM_001348661.2:32..265"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:388272"
                     /db_xref="HGNC:HGNC:33754"
ORIGIN      
        1 msatrakkvk matkscpecd qqvpvacksc pcgyifisrk llnakhseks ppstgsqkic
       61 yqyclsqeap tsyllpk
//
LOCUS       NP_000774                497 aa            linear   PRI 18-DEC-2022
DEFINITION  cytochrome P450 26A1 isoform 1 [Homo sapiens].
ACCESSION   NP_000774
VERSION     NP_000774.2
DBSOURCE    REFSEQ: accession NM_000783.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 497)
  AUTHORS   Yu Y, Wang Y, Zou Y and Yu Y.
  TITLE     CYP26A1 Is a Novel Cancer Biomarker of Pancreatic Carcinoma:
            Evidence from Integration Analysis and In Vitro Experiments
  JOURNAL   Dis Markers 2022, 5286820 (2022)
   PUBMED   35707714
  REMARK    GeneRIF: CYP26A1 Is a Novel Cancer Biomarker of Pancreatic
            Carcinoma: Evidence from Integration Analysis and In Vitro
            Experiments.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 497)
  AUTHORS   Wei DP, Li DD, Gu AQ, Ji WH, Yang Y and Peng JP.
  TITLE     A novel Cytochrome P450 26A1 expressing NK cell subset at the mouse
            maternal-foetal interface
  JOURNAL   J Cell Mol Med 25 (3), 1771-1782 (2021)
   PUBMED   33438367
  REMARK    GeneRIF: A novel Cytochrome P450 26A1 expressing NK cell subset at
            the mouse maternal-foetal interface.
REFERENCE   3  (residues 1 to 497)
  AUTHORS   Guo P, Ji Z, Jiang H, Huang X, Wang C and Pan B.
  TITLE     Identification of a novel CYP26A1 mutation in a Chinese family with
            congenital microtia
  JOURNAL   Int J Pediatr Otorhinolaryngol 139, 110488 (2020)
   PUBMED   33197841
  REMARK    GeneRIF: Identification of a novel CYP26A1 mutation in a Chinese
            family with congenital microtia.
REFERENCE   4  (residues 1 to 497)
  AUTHORS   Isoherranen N and Zhong G.
  TITLE     Biochemical and physiological importance of the CYP26 retinoic acid
            hydroxylases
  JOURNAL   Pharmacol Ther 204, 107400 (2019)
   PUBMED   31419517
  REMARK    GeneRIF: This review highlights the current knowledge of
            structure-function of CYP26 enzymes and focuses on their role in
            human retinoid metabolism in different tissues.
            Review article
REFERENCE   5  (residues 1 to 497)
  AUTHORS   Chen PH, Chuang LY, Wu KC, Wang YH, Shieh TY, Sheu JJ, Chang HW and
            Yang CH.
  TITLE     Application of simulation-based CYP26 SNP-environment barcodes for
            evaluating the occurrence of oral malignant disorders by odds
            ratio-based binary particle swarm optimization: A case-control
            study in the Taiwanese population
  JOURNAL   PLoS One 14 (8), e0220719 (2019)
   PUBMED   31465460
  REMARK    GeneRIF: The combined effects of the novel CYP26 single nucleotide
            polymorphisms -environment approach may predict the risk of
            occurrence of oral malignant disorders.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 497)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert
            DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (residues 1 to 497)
  AUTHORS   White JA, Beckett B, Scherer SW, Herbrick JA and Petkovich M.
  TITLE     P450RAI (CYP26A1) maps to human chromosome 10q23-q24 and mouse
            chromosome 19C2-3
  JOURNAL   Genomics 48 (2), 270-272 (1998)
   PUBMED   9521883
REFERENCE   8  (residues 1 to 497)
  AUTHORS   Ray WJ, Bain G, Yao M and Gottlieb DI.
  TITLE     CYP26, a novel mammalian cytochrome P450, is induced by retinoic
            acid and defines a new family
  JOURNAL   J Biol Chem 272 (30), 18702-18708 (1997)
   PUBMED   9228041
REFERENCE   9  (residues 1 to 497)
  AUTHORS   White JA, Beckett-Jones B, Guo YD, Dilworth FJ, Bonasoro J, Jones G
            and Petkovich M.
  TITLE     cDNA cloning of human retinoic acid-metabolizing enzyme (hP450RAI)
            identifies a novel family of cytochromes P450
  JOURNAL   J Biol Chem 272 (30), 18538-18541 (1997)
   PUBMED   9228017
REFERENCE   10 (residues 1 to 497)
  AUTHORS   Duell EA, Kang S and Voorhees JJ.
  TITLE     Retinoic acid isomers applied to human skin in vivo each induce a
            4-hydroxylase that inactivates only trans retinoic acid
  JOURNAL   J Invest Dermatol 106 (2), 316-320 (1996)
   PUBMED   8601734
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL358613.16.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 15, 2001 this sequence version replaced NP_000774.1.
            
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This endoplasmic reticulum protein acts on retinoids, including
            all-trans-retinoic acid (RA), with both 4-hydroxylation and
            18-hydroxylation activities. This enzyme regulates the cellular
            level of retinoic acid which is involved in regulation of gene
            expression in both embryonic and adult tissues. Two alternatively
            spliced transcript variants of this gene, which encode the distinct
            isoforms, have been reported. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer protein
            (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.42524.1, AK075374.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2145122
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000224356.5/ ENSP00000224356.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..497
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.33"
     Protein         1..497
                     /product="cytochrome P450 26A1 isoform 1"
                     /EC_number="1.14.-.-"
                     /note="P450, retinoic acid-inactivating, 1; retinoic
                     acid-metabolizing cytochrome; retinoic acid 4-hydroxylase;
                     cytochrome P450, subfamily XXVIA, polypeptide 1;
                     cytochrome P450 26A1; hP450RAI; cytochrome P450RAI;
                     cytochrome P450 retinoic acid-inactivating 1; cytochrome
                     P450, family 26, subfamily A, polypeptide 1"
                     /calculated_mol_wt=56068
     Region          55..490
                     /region_name="CYP26A1"
                     /note="cytochrome P450 family 26, subfamily A, polypeptide
                     1; cd20638"
                     /db_xref="CDD:410731"
     Site            order(60,90,112,116,126,222,296,299..300,304,370..372,397,
                     478)
                     /site_type="other"
                     /note="chemical substrate binding pocket [chemical
                     binding]"
                     /db_xref="CDD:410731"
     Site            order(112,125..126,133,137,144,193,296..297,300..301,
                     304..305,364,369..370,375,396,398,434..436,440,442..444,
                     447..448,452)
                     /site_type="other"
                     /note="heme binding site [chemical binding]"
                     /db_xref="CDD:410731"
     Site            442
                     /site_type="binding"
                     /note="heme binding site"
     CDS             1..497
                     /gene="CYP26A1"
                     /gene_synonym="CP26; CYP26; P450RAI; P450RAI1"
                     /coded_by="NM_000783.4:43..1536"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7426.1"
                     /db_xref="GeneID:1592"
                     /db_xref="HGNC:HGNC:2603"
                     /db_xref="MIM:602239"
ORIGIN      
        1 mglpallasa lctfvlplll flaaiklwdl ycvsgrdrsc alplppgtmg fpffgetlqm
       61 vlqrrkflqm krrkygfiyk thlfgrptvr vmgadnvrri llgehrlvsv hwpasvrtil
      121 gsgclsnlhd sshkqrkkvi mrafsreale cyvpviteev gssleqwlsc gergllvype
      181 vkrlmfriam rillgcepql agdgdseqql veafeemtrn lfslpidvpf sglyrgmkar
      241 nliharieqn irakicglra seagqgckda lqlliehswe rgerldmqal kqsstellfg
      301 ghettasaat slitylglyp hvlqkvreel kskgllcksn qdnkldmeil eqlkyigcvi
      361 ketlrlnppv pggfrvalkt felngyqipk gwnviysicd thdvaeiftn keefnpdrfm
      421 lphpedasrf sfipfggglr scvgkefaki llkiftvela rhcdwqllng pptmktsptv
      481 ypvdnlparf thfhgei
//
LOCUS       NP_002485                 76 aa            linear   PRI 23-DEC-2022
DEFINITION  NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
            precursor [Homo sapiens].
ACCESSION   NP_002485
VERSION     NP_002485.1
DBSOURCE    REFSEQ: accession NM_002494.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 76)
  AUTHORS   Signes A and Fernandez-Vizarra E.
  TITLE     Assembly of mammalian oxidative phosphorylation complexes I-V and
            supercomplexes
  JOURNAL   Essays Biochem 62 (3), 255-270 (2018)
   PUBMED   30030361
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 76)
  AUTHORS   Guo R, Zong S, Wu M, Gu J and Yang M.
  TITLE     Architecture of Human Mitochondrial Respiratory Megacomplex
            I2III2IV2
  JOURNAL   Cell 170 (6), 1247-1257 (2017)
   PUBMED   28844695
REFERENCE   3  (residues 1 to 76)
  AUTHORS   Stroud DA, Surgenor EE, Formosa LE, Reljic B, Frazier AE, Dibley
            MG, Osellame LD, Stait T, Beilharz TH, Thorburn DR, Salim A and
            Ryan MT.
  TITLE     Accessory subunits are integral for assembly and function of human
            mitochondrial complex I
  JOURNAL   Nature 538 (7623), 123-126 (2016)
   PUBMED   27626371
REFERENCE   4  (residues 1 to 76)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   5  (residues 1 to 76)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   6  (residues 1 to 76)
  AUTHORS   Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA,
            Smeets RJ, Trijbels JM and Smeitink JA.
  TITLE     cDNA of eight nuclear encoded subunits of NADH:ubiquinone
            oxidoreductase: human complex I cDNA characterization completed
  JOURNAL   Biochem Biophys Res Commun 253 (2), 415-422 (1998)
   PUBMED   9878551
REFERENCE   7  (residues 1 to 76)
  AUTHORS   Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu
            BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ and Chen
            Z.
  TITLE     Identification of genes expressed in human CD34(+) hematopoietic
            stem/progenitor cells by expressed sequence tags and efficient
            full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 95 (14), 8175-8180 (1998)
   PUBMED   9653160
REFERENCE   8  (residues 1 to 76)
  AUTHORS   Emahazion T, Beskow A, Gyllensten U and Brookes AJ.
  TITLE     Intron based radiation hybrid mapping of 15 complex I genes of the
            human electron transport chain
  JOURNAL   Cytogenet Cell Genet 82 (1-2), 115-119 (1998)
   PUBMED   9763677
REFERENCE   9  (residues 1 to 76)
  AUTHORS   Ton C, Hwang DM, Dempsey AA and Liew CC.
  TITLE     Identification and primary structure of five human NADH-ubiquinone
            oxidoreductase subunits
  JOURNAL   Biochem Biophys Res Commun 241 (2), 589-594 (1997)
   PUBMED   9425316
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG701467.1, BC107682.1,
            AC097376.3 and W56292.1.
            
            Summary: The encoded protein is a subunit of the NADH:ubiquinone
            oxidoreductase (complex I), the first enzyme complex in the
            electron transport chain located in the inner mitochondrial
            membrane. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 through 7 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC107682.1, BM310149.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..76
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.1"
     Protein         1..76
                     /product="NADH dehydrogenase [ubiquinone] 1 subunit C1,
                     mitochondrial precursor"
                     /note="complex I KFYI subunit; CI-KFYI; complex I-KFYI;
                     NADH-ubiquinone oxidoreductase KFYI subunit; NADH
                     dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa"
                     /calculated_mol_wt=5938
     transit_peptide 1..27
                     /inference="protein motif:SignalP:3.0"
                     /note="The cleavage site of the signal peptide has not
                     been experimentally determined."
                     /calculated_mol_wt=2814
     Region          28..76
                     /region_name="NADH_dh_m_C1"
                     /note="NADH dehydrogenase [ubiquinone] 1 subunit C1,
                     mitochondrial; pfam15088"
                     /db_xref="CDD:434447"
     Site            41..59
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43677.1)"
     CDS             1..76
                     /gene="NDUFC1"
                     /gene_synonym="KFYI"
                     /coded_by="NM_002494.3:434..664"
                     /db_xref="CCDS:CCDS3746.1"
                     /db_xref="GeneID:4717"
                     /db_xref="HGNC:HGNC:7705"
                     /db_xref="MIM:603844"
ORIGIN      
        1 mapsallrpl srllaparlp sgpsvrskfy vreppnakpd wlkvgftlgt tvflwiylik
       61 qhnedileyk rrngle
//
LOCUS       NP_001124479            1610 aa            linear   PRI 24-DEC-2022
DEFINITION  transmembrane protein 131-like isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001124479
VERSION     NP_001124479.1
DBSOURCE    REFSEQ: accession NM_001131007.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1610)
  AUTHORS   Szuplewski S, Maharzi N, Nelson E, Alhaj Hussen K, Mignotte B,
            Guenal I and Canque B.
  TITLE     Evolutionary conservation of Notch signaling inhibition by TMEM131L
            overexpression
  JOURNAL   Biochem Biophys Res Commun 486 (4), 909-915 (2017)
   PUBMED   28347816
  REMARK    GeneRIF: These results show that TMEM131L corresponds to an
            evolutionary conserved regulator of the Notch signaling pathway.
REFERENCE   2  (residues 1 to 1610)
  AUTHORS   Low SK, Chung S, Takahashi A, Zembutsu H, Mushiroda T, Kubo M and
            Nakamura Y.
  TITLE     Genome-wide association study of chemotherapeutic agent-induced
            severe neutropenia/leucopenia for patients in Biobank Japan
  JOURNAL   Cancer Sci 104 (8), 1074-1082 (2013)
   PUBMED   23648065
REFERENCE   3  (residues 1 to 1610)
  AUTHORS   Maharzi N, Parietti V, Nelson E, Denti S, Robledo-Sarmiento M,
            Setterblad N, Parcelier A, Pla M, Sigaux F, Gluckman JC and Canque
            B.
  TITLE     Identification of TMEM131L as a novel regulator of thymocyte
            proliferation in humans
  JOURNAL   J Immunol 190 (12), 6187-6197 (2013)
   PUBMED   23690469
  REMARK    GeneRIF: these data indicate that, during thymopoiesis,
            stage-specific surface translocation of TMEM131L may regulate
            immature single-positive thymocyte proliferation arrest
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK092270.1, AK308448.1, AK096538.1 and BC044932.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (2).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.113328.1,
                                           SRR1803611.115260.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000409959.8/ ENSP00000386787.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1610
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.3"
     Protein         1..1610
                     /product="transmembrane protein 131-like isoform 1
                     precursor"
                     /calculated_mol_wt=175270
     sig_peptide     1..40
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=4159
     Region          91..174
                     /region_name="ASH"
                     /note="Abnormal spindle-like microcephaly-assoc'd,
                     ASPM-SPD-2-Hydin; cl13764"
                     /db_xref="CDD:449188"
     Region          185..1610
                     /region_name="TMEM131_like"
                     /note="Transmembrane protein 131-like; pfam19532"
                     /db_xref="CDD:437364"
     Site            343
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (A2VDJ0.2)"
     Site            440
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (A2VDJ0.2)"
     Site            523
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (A2VDJ0.2)"
     Site            594
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (A2VDJ0.2)"
     Region          697..917
                     /region_name="Required for Wnt-signaling inhibition and
                     LRP6 degradation. /evidence=ECO:0000269|PubMed:23690469"
                     /note="propagated from UniProtKB/Swiss-Prot (A2VDJ0.2)"
     Site            710
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (A2VDJ0.2)"
     Site            847
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (A2VDJ0.2)"
     Site            871..891
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (A2VDJ0.2)"
     Region          947..975
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A2VDJ0.2)"
     Region          992..1015
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A2VDJ0.2)"
     Region          1109..1145
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A2VDJ0.2)"
     Site            1123
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (A2VDJ0.2)"
     Region          1160..1179
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A2VDJ0.2)"
     Region          1305..1341
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A2VDJ0.2)"
     CDS             1..1610
                     /gene="TMEM131L"
                     /gene_synonym="KIAA0922"
                     /coded_by="NM_001131007.2:39..4871"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS47148.1"
                     /db_xref="GeneID:23240"
                     /db_xref="HGNC:HGNC:29146"
                     /db_xref="MIM:616243"
ORIGIN      
        1 maglrrpqpg cycrtaaavn lllgvfqvll pccrpggaqg qaieplpnvv elwqaeegel
       61 llptqgdsee gleepsqeqs fsdklfsgkg lhfqpsvldf giqflghpva kilhaynpsr
      121 dsevvvnsvf aaaghfhvpp vpcrvipamg ktsfriiflp teegsiessl fintssygvl
      181 syhvsgigtr ristegsakq lpnayfllpk vqsiqlsqmq aettntsllq vqlecslhnk
      241 vcqqlkgcyl esddvlrlqm simvtmenfs kefeentqhl ldhlsivyva tdesetsdds
      301 avnmyilhsg nsliwiqdir hfsqrdalsl qfepvllpts ttnftkiasf tckaatscds
      361 giiedvkktt htptlkaclf ssvaqgyfrm dssatqfhie thentsglws iwyrnhfdrs
      421 vvlndvflsk etkhmlkiln ftgplflppg cwnifslkla vkdiainlft nvflttniga
      481 ifaiplqiys aptkegslgf eviahcgmhy fmgkskagnp nwngslsldq stwnvdsela
      541 nklyerwkky kngdvckrnv lgttrfahlk kskesesfvf flprliaepg lmlnfsatal
      601 rsrmikyfvv qnpsswpvsl qllplslypk pealvhllhr wfgtdmqmin fttgefqlte
      661 acpylgthse esrfgilhlh lqplemkrvg vvftpadygk vtslilirnn ltvidmigve
      721 gfgarellkv ggrlpgaggs lrfkvpestl mdcrrqlkds kqilsitknf kvenigplpi
      781 tvsslkingy ncqgygfevl dchqfsldpn tsrdisivft pdftsswvir dlslvtaadl
      841 efrftlnvtl phhllplcad vvpgpswees fwrltvffvs lsllgvilia fqqaqyilme
      901 fmktrqrqna ssssqqnngp mdvisphsyk sncknfldty gpsdkgrgkn clpvntpqsr
      961 iqnaakrspa tyghsqkkhk csvyyskhkt staaasstst tteekqtspl gsslpaaked
     1021 ictdamrenw islryasgin vnlqknltlp knllnkeent lkntivfsnp ssecsmkegi
     1081 qtcmfpketd iktsentaef kerelcplkt skklpenhlp rnspqyhqpd lpeisrknng
     1141 nnqqvpvkne vdhcenlkkv dtkpssekki hktsredmfs ekqdipfveq edpyrkkklq
     1201 ekregnlqnl nwsksrtcrk nkkrgvapvs rppeqsdlkl vcsdfersel ssdinvrswc
     1261 iqestrevck adaeiasslp aaqreaegyy qkpekkcvdk fcsdsssdcg sssgsvrasr
     1321 gswgswssts ssdgdkkpmv daqhflpagd svsqndfpse apislnlshn icnpmtvnsl
     1381 pqyaepscps lpagptgvee dkglyspgdl wptppvcvts slnctlengv pcviqesapv
     1441 hnsfidwsat cegqfssayc plelndynaf peenmnyang fpcpadvqtd fidhnsqstw
     1501 ntppnmpaaw ghasfisspp yltstrslsp msglfgsiwa pqsdvyencc pinpttehst
     1561 hmenqavvck eyypgfnpfr aymnldiwtt tanrnanfpl srdssycgnv
//
LOCUS       NP_001339746             339 aa            linear   PRI 24-DEC-2022
DEFINITION  zinc finger protein 385B isoform 9 [Homo sapiens].
ACCESSION   NP_001339746
VERSION     NP_001339746.1
DBSOURCE    REFSEQ: accession NM_001352817.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 339)
  AUTHORS   Liang S, Wang XL, Zou MY, Wang H, Zhou X, Sun CH, Xia W, Wu LJ,
            Fujisawa TX and Tomoda A.
  TITLE     Family-based association study of ZNF533, DOCK4 and IMMP2L gene
            polymorphisms linked to autism in a northeastern Chinese Han
            population
  JOURNAL   J Zhejiang Univ Sci B 15 (3), 264-271 (2014)
   PUBMED   24599690
  REMARK    GeneRIF: The study found significant associations between autism
            and two SNPs of the ZNF533 gene.
REFERENCE   2  (residues 1 to 339)
  AUTHORS   Iijima K, Yamada H, Miharu M, Imadome K, Miyagawa Y, Akimoto S,
            Kobayashi K, Okita H, Nakazawa A, Fujiwara S, Fujimoto J and
            Kiyokawa N.
  TITLE     ZNF385B is characteristically expressed in germinal center B cells
            and involved in B-cell apoptosis
  JOURNAL   Eur J Immunol 42 (12), 3405-3415 (2012)
   PUBMED   22945289
  REMARK    GeneRIF: The direct binding of ZNF385B with p53 has suggested the
            involvement of ZNF385B in B-cell apoptosis via modulation of p53
            transactivation
REFERENCE   3  (residues 1 to 339)
  AUTHORS   Elgaaen BV, Olstad OK, Sandvik L, Odegaard E, Sauer T, Staff AC and
            Gautvik KM.
  TITLE     ZNF385B and VEGFA are strongly differentially expressed in serous
            ovarian carcinomas and correlate with survival
  JOURNAL   PLoS One 7 (9), e46317 (2012)
   PUBMED   23029477
  REMARK    GeneRIF: ZNF385B and VEGFA are strongly differentially expressed in
            serous ovarian carcinomas and correlate with survival.
REFERENCE   4  (residues 1 to 339)
  AUTHORS   Aouizerat BE, Vittinghoff E, Musone SL, Pawlikowska L, Kwok PY,
            Olgin JE and Tseng ZH.
  TITLE     GWAS for discovery and replication of genetic loci associated with
            sudden cardiac arrest in patients with coronary artery disease
  JOURNAL   BMC Cardiovasc Disord 11, 29 (2011)
   PUBMED   21658281
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 339)
  AUTHORS   Wu J, Zheng Q, Huang YQ, Wang Y, Li S, Lu DW, Shi B and Chen HQ.
  TITLE     Significant evidence of association between polymorphisms in
            ZNF533, environmental factors, and nonsyndromic orofacial clefts in
            the Western Han Chinese population
  JOURNAL   DNA Cell Biol 30 (1), 47-54 (2011)
   PUBMED   20849254
  REMARK    GeneRIF: the relationship between ZNF533, environmental factors,
            and the etiology of nonsyndromic orofacial clefts
            GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   6  (residues 1 to 339)
  AUTHORS   Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa
            I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F,
            Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson
            G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ and
            Monaco AP.
  CONSRTM   IMGSAC
  TITLE     High-density SNP association study and copy number variation
            analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4
            gene region in autism susceptibility
  JOURNAL   Mol Psychiatry 15 (9), 954-968 (2010)
   PUBMED   19401682
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 339)
  AUTHORS   Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G,
            Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK,
            Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek
            WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT,
            McManus R, van Heel DA and Wijmenga C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC062033.2, AC068042.5 and BC092423.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR3476690.509499.1, DRR138525.678688.1
                                    [ECO:0000331]
            RNAseq introns       :: partial sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..339
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.2-q31.3"
     Protein         1..339
                     /product="zinc finger protein 385B isoform 9"
                     /note="zinc finger protein 533"
                     /calculated_mol_wt=35841
     Region          27..49
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Region          27..49
                     /region_name="zf-met"
                     /note="Zinc-finger of C2H2 type; pfam12874"
                     /db_xref="CDD:432845"
     Region          153..177
                     /region_name="zf-met"
                     /note="Zinc-finger of C2H2 type; pfam12874"
                     /db_xref="CDD:432845"
     Region          155..217
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Site            order(162..164,166..167,171,216,223,226..230,232..233)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275371"
     Region          216..240
                     /region_name="zf-met"
                     /note="Zinc-finger of C2H2 type; pfam12874"
                     /db_xref="CDD:432845"
     Region          218..240
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     CDS             1..339
                     /gene="ZNF385B"
                     /gene_synonym="ZNF533"
                     /coded_by="NM_001352817.1:799..1818"
                     /note="isoform 9 is encoded by transcript variant 15"
                     /db_xref="GeneID:151126"
                     /db_xref="HGNC:HGNC:26332"
                     /db_xref="MIM:612344"
ORIGIN      
        1 mdpvqkavin htfgvsippk kkqviscnvc qlrfnsdsqa eahykgskha kkvkaldatk
       61 nkpkmvpskd sakanpscsi tpitgnnsdk sedkgklkas sssqpssses gsfllksgtt
      121 plppgaatsp skstngapgt vveseeekak kllycslckv avnslsqlea hntgskhktm
      181 vearngagpi ksyprpgsrl kmqngskgsg lqnktfhcei cdvhvnseiq lkqhissrrh
      241 kdrvagkplk pkyspynklq rspsilaakl afqkdmmkpl apaflsspla aaaavssals
      301 lpprpsaslf qapaippall rpghgpirat pasilfapy
//
LOCUS       NP_996846                294 aa            linear   PRI 24-DEC-2022
DEFINITION  retinoic acid receptor responder protein 1 isoform 1 precursor
            [Homo sapiens].
ACCESSION   NP_996846
VERSION     NP_996846.1
DBSOURCE    REFSEQ: accession NM_206963.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 294)
  AUTHORS   Geng X, Chi K, Liu C, Fu Z, Wang X, Meng L, Wang H, Cai G, Chen X
            and Hong Q.
  TITLE     Interaction of RARRES1 with ICAM1 modulates macrophages to suppress
            the progression of kidney renal clear cell carcinoma
  JOURNAL   Front Immunol 13, 982045 (2022)
   PUBMED   36353618
  REMARK    GeneRIF: Interaction of RARRES1 with ICAM1 modulates macrophages to
            suppress the progression of kidney renal clear cell carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 294)
  AUTHORS   Ma L, Ma Y and Lian A.
  TITLE     Involvement of miR-769-5p/Retinoic Acid Receptor Responder 1 Axis
            in the Progression of Osteosarcoma: Characterization of Potential
            Therapeutic Targets
  JOURNAL   Pharmacology 107 (3-4), 179-187 (2022)
   PUBMED   35152215
  REMARK    GeneRIF: Involvement of miR-769-5p/Retinoic Acid Receptor Responder
            1 Axis in the Progression of Osteosarcoma: Characterization of
            Potential Therapeutic Targets.
REFERENCE   3  (residues 1 to 294)
  AUTHORS   Wang CH, Lu TJ, Wang LK, Wu CC, Chen ML, Kuo CY, Shyu RY and Tsai
            FM.
  TITLE     Tazarotene-induced gene 1 interacts with Polo-like kinase 2 and
            inhibits cell proliferation in HCT116 colorectal cancer cells
  JOURNAL   Cell Biol Int 45 (11), 2347-2356 (2021)
   PUBMED   34314079
  REMARK    GeneRIF: Tazarotene-induced gene 1 interacts with Polo-like kinase
            2 and inhibits cell proliferation in HCT116 colorectal cancer
            cells.
REFERENCE   4  (residues 1 to 294)
  AUTHORS   Chen A, Lee K and He JC.
  TITLE     Autocrine and paracrine effects of a novel podocyte gene, RARRES1
  JOURNAL   Kidney Int 100 (4), 745-747 (2021)
   PUBMED   34556297
  REMARK    GeneRIF: Autocrine and paracrine effects of a novel podocyte gene,
            RARRES1.
REFERENCE   5  (residues 1 to 294)
  AUTHORS   Wang CH, Wang LK, Wu CC, Chen ML, Kuo CY, Shyu RY and Tsai FM.
  TITLE     Cathepsin V Mediates the Tazarotene-induced Gene 1-induced
            Reduction in Invasion in Colorectal Cancer Cells
  JOURNAL   Cell Biochem Biophys 78 (4), 483-494 (2020)
   PUBMED   32918681
  REMARK    GeneRIF: Cathepsin V Mediates the Tazarotene-induced Gene 1-induced
            Reduction in Invasion in Colorectal Cancer Cells.
REFERENCE   6  (residues 1 to 294)
  AUTHORS   Youssef EM, Chen XQ, Higuchi E, Kondo Y, Garcia-Manero G, Lotan R
            and Issa JP.
  TITLE     Hypermethylation and silencing of the putative tumor suppressor
            Tazarotene-induced gene 1 in human cancers
  JOURNAL   Cancer Res 64 (7), 2411-2417 (2004)
   PUBMED   15059893
  REMARK    GeneRIF: Silencing of TIG1 promoter by hypermethylation is common
            in human cancers and may contribute to the loss of retinoic acid
            responsiveness in some neoplastic cells.
REFERENCE   7  (residues 1 to 294)
  AUTHORS   Zhang J, Liu L and Pfeifer GP.
  TITLE     Methylation of the retinoid response gene TIG1 in prostate cancer
            correlates with methylation of the retinoic acid receptor beta gene
  JOURNAL   Oncogene 23 (12), 2241-2249 (2004)
   PUBMED   14691453
REFERENCE   8  (residues 1 to 294)
  AUTHORS   Jing C, El-Ghany MA, Beesley C, Foster CS, Rudland PS, Smith P and
            Ke Y.
  TITLE     Tazarotene-induced gene 1 (TIG1) expression in prostate carcinomas
            and its relationship to tumorigenicity
  JOURNAL   J Natl Cancer Inst 94 (7), 482-490 (2002)
   PUBMED   11929948
REFERENCE   9  (residues 1 to 294)
  AUTHORS   Duvic M, Nagpal S, Asano AT and Chandraratna RA.
  TITLE     Molecular mechanisms of tazarotene action in psoriasis
  JOURNAL   J Am Acad Dermatol 37 (2 Pt 3), S18-S24 (1997)
   PUBMED   9270552
  REMARK    Review article
REFERENCE   10 (residues 1 to 294)
  AUTHORS   Nagpal S, Patel S, Asano AT, Johnson AT, Duvic M and Chandraratna
            RA.
  TITLE     Tazarotene-induced gene 1 (TIG1), a novel retinoic acid
            receptor-responsive gene in skin
  JOURNAL   J Invest Dermatol 106 (2), 269-274 (1996)
   PUBMED   8601727
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM919188.1, AK130079.1,
            BC029640.1 and AC080013.17.
            
            Summary: This gene was identified as a retinoid acid (RA)
            receptor-responsive gene. It encodes a type 1 membrane protein. The
            expression of this gene is upregulated by tazarotene as well as by
            retinoic acid receptors. The expression of this gene is found to be
            downregulated in prostate cancer, which is caused by the
            methylation of its promoter and CpG island. Alternatively spliced
            transcript variant encoding distinct isoforms have been observed.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. It encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK130079.1, BC029640.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000237696.10/ ENSP00000237696.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..294
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.32"
     Protein         1..294
                     /product="retinoic acid receptor responder protein 1
                     isoform 1 precursor"
                     /note="latexin-like; phorbol ester-induced gene 1 protein;
                     retinoic acid receptor responder protein 1; RAR-responsive
                     protein TIG1; retinoic acid receptor responder (tazarotene
                     induced) 1; tazarotene-induced gene 1 protein"
                     /calculated_mol_wt=29051
     sig_peptide     1..41
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=4252
     Site            21..42
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P49788.2)"
     Region          52..274
                     /region_name="Latexin"
                     /note="pfam06907"
                     /db_xref="CDD:429186"
     Region          273..294
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P49788.2)"
     CDS             1..294
                     /gene="RARRES1"
                     /gene_synonym="LXNL; PERG-1; TIG1"
                     /coded_by="NM_206963.2:43..927"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS3184.1"
                     /db_xref="GeneID:5918"
                     /db_xref="HGNC:HGNC:9867"
                     /db_xref="MIM:605090"
ORIGIN      
        1 mqprrqrlpa pwsgprgprp tapllallll lapvaapags gdpddpgqpq dagvprrllq
       61 qaaraalhff nfrsgspsal rvlaevqegr awinpkegck vhvvfstery npesllqege
      121 grlgkcsarv ffknqkprpt invtctrlie kkkrqqedyl lykqmkqlkn pleivsipdn
      181 hghidpslrl iwdlaflgss yvmwemttqv shyylaqlts vrqwktnddt idfdytvllh
      241 elstqeiipc rihlvwypgk plkvkyhcqe lqtpeeasgt eegsavvpte lsnf
//
LOCUS       NP_940929                140 aa            linear   PRI 24-DEC-2022
DEFINITION  guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1
            isoform 2 [Homo sapiens].
ACCESSION   NP_940929 XP_351014
VERSION     NP_940929.1
DBSOURCE    REFSEQ: accession NM_198527.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 140)
  AUTHORS   Ding CC, Rose J, Sun T, Wu J, Chen PH, Lin CC, Yang WH, Chen KY,
            Lee H, Xu E, Tian S, Akinwuntan J, Zhao J, Guan Z, Zhou P and Chi
            JT.
  TITLE     MESH1 is a cytosolic NADPH phosphatase that regulates ferroptosis
  JOURNAL   Nat Metab 2 (3), 270-277 (2020)
   PUBMED   32462112
  REMARK    GeneRIF: MESH1 is a cytosolic NADPH phosphatase that regulates
            ferroptosis.
REFERENCE   2  (residues 1 to 140)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 140)
  AUTHORS   Sun D, Lee G, Lee JH, Kim HY, Rhee HW, Park SY, Kim KJ, Kim Y, Kim
            BY, Hong JI, Park C, Choy HE, Kim JH, Jeon YH and Chung J.
  TITLE     A metazoan ortholog of SpoT hydrolyzes ppGpp and functions in
            starvation responses
  JOURNAL   Nat Struct Mol Biol 17 (10), 1188-1194 (2010)
   PUBMED   20818390
  REMARK    GeneRIF: Mesh1, encoded by HDDC3 in humans, contains an active site
            for ppGpp hydrolysis and a conserved His-Asp-box motif for Mn(2+)
            binding. It catalyzes hydrolysis of ppGpp both in vitro and in
            vivo.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AW138983.1, BC033794.2, BI833873.1 and BQ187342.1.
            On Dec 17, 2003 this sequence version replaced XP_351014.1.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' coding region, which results in a frameshift, compared to
            variant 1. The encoded isoform (2) has a distinct C-terminus and is
            shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.195091.1, BC033794.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..140
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     Protein         1..140
                     /product="guanosine-3',5'-bis(diphosphate)
                     3'-pyrophosphohydrolase MESH1 isoform 2"
                     /EC_number="3.1.7.2"
                     /note="HD domain-containing protein 3;
                     guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase
                     MESH1; penta-phosphate guanosine-3'-pyrophosphohydrolase;
                     metazoan SpoT homolog 1"
                     /calculated_mol_wt=15602
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylglycine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q8N4P3.3)"
     Region          4..>138
                     /region_name="SpoT"
                     /note="(p)ppGpp synthase/hydrolase, HD superfamily [Signal
                     transduction mechanisms, Transcription]; COG0317"
                     /db_xref="CDD:223394"
     Site            25
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q8N4P3.3)"
     Site            97
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q8N4P3.3)"
     Site            123
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q8N4P3.3)"
     CDS             1..140
                     /gene="HDDC3"
                     /gene_synonym="(ppGpp)ase; MESH1"
                     /coded_by="NM_198527.4:30..452"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS10366.1"
                     /db_xref="GeneID:374659"
                     /db_xref="HGNC:HGNC:30522"
ORIGIN      
        1 mgseaaqlle aadfaarkhr qqrrkdpegt pyinhpigva riltheagit divvlqaall
       61 hdtvedtdtt ldevelhfga qvrrlveevt ddktlpkler krlqveqaph sspgaklvkl
      121 adklynlrdl nrctpevkiq
//
LOCUS       NP_001277154             327 aa            linear   PRI 25-DEC-2022
DEFINITION  phosphatidylserine synthase 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001277154
VERSION     NP_001277154.1
DBSOURCE    REFSEQ: accession NM_001290225.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 327)
  AUTHORS   Miyata N and Kuge O.
  TITLE     Topology of phosphatidylserine synthase 1 in the endoplasmic
            reticulum membrane
  JOURNAL   Protein Sci 30 (11), 2346-2353 (2021)
   PUBMED   34516042
  REMARK    GeneRIF: Topology of phosphatidylserine synthase 1 in the
            endoplasmic reticulum membrane.
REFERENCE   2  (residues 1 to 327)
  AUTHORS   Seda M, Peskett E, Demetriou C, Bryant D, Moore GE, Stanier P and
            Jenkins D.
  TITLE     Analysis of transgenic zebrafish expressing the Lenz-Majewski
            syndrome gene PTDSS1 in skeletal cell lineages
  JOURNAL   F1000Res 8, 273 (2019)
   PUBMED   31231513
  REMARK    GeneRIF: used transpose-mediated transgenesis to attempt to stably
            express wild-type and mutant forms of human PTDSS1 ubiquitously or
            specifically in chondrocytes, osteoblasts or osteoclasts in
            zebrafish
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 327)
  AUTHORS   Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova
            M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S,
            Kornak U, Stanier P, Sousa SB and Van Maldergem L.
  TITLE     Cutis laxa and excessive bone growth due to de novo mutations in
            PTDSS1
  JOURNAL   Am J Med Genet A 176 (3), 668-675 (2018)
   PUBMED   29341480
  REMARK    GeneRIF: we report here three patients with LMS and heterozygous
            mutations in PTDSS1. We describe an adult phenotype and two novel
            PTDSS1 mutations. We suggest that LMS should be considered in the
            differential diagnosis of a newborn with CL.
            Review article
REFERENCE   4  (residues 1 to 327)
  AUTHORS   Sohn M, Ivanova P, Brown HA, Toth DJ, Varnai P, Kim YJ and Balla T.
  TITLE     Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol
            4-phosphate metabolism at ER-PM and ER-Golgi junctions
  JOURNAL   Proc Natl Acad Sci U S A 113 (16), 4314-4319 (2016)
   PUBMED   27044099
  REMARK    GeneRIF: PSS1 mutations not only affect cellular PS levels and
            distribution but also lead to a more complex imbalance in lipid
            homeostasis by disturbing PI4P metabolism.
REFERENCE   5  (residues 1 to 327)
  AUTHORS   Soueid J, Kourtian S, Makhoul NJ, Makoukji J, Haddad S, Ghanem SS,
            Kobeissy F and Boustany RM.
  TITLE     RYR2, PTDSS1 and AREG genes are implicated in a Lebanese
            population-based study of copy number variation in autism
  JOURNAL   Sci Rep 6, 19088 (2016)
   PUBMED   26742492
  REMARK    GeneRIF: RYR2, PTDSS1 and AREG are autism susceptibility genes that
            are implicated in a Lebanese population-based study of copy number
            variations in this disease.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 327)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   7  (residues 1 to 327)
  AUTHORS   Tomohiro S, Kawaguti A, Kawabe Y, Kitada S and Kuge O.
  TITLE     Purification and characterization of human phosphatidylserine
            synthases 1 and 2
  JOURNAL   Biochem J 418 (2), 421-429 (2009)
   PUBMED   19014349
  REMARK    GeneRIF: Purification and characterization of human
            phosphatidylserine synthases 1 and 2.
REFERENCE   8  (residues 1 to 327)
  AUTHORS   Sturbois-Balcerzak B, Stone SJ, Sreenivas A and Vance JE.
  TITLE     Structure and expression of the murine phosphatidylserine
            synthase-1 gene
  JOURNAL   J Biol Chem 276 (11), 8205-8212 (2001)
   PUBMED   11084049
REFERENCE   9  (residues 1 to 327)
  AUTHORS   Stone SJ and Vance JE.
  TITLE     Phosphatidylserine synthase-1 and -2 are localized to
            mitochondria-associated membranes
  JOURNAL   J Biol Chem 275 (44), 34534-34540 (2000)
   PUBMED   10938271
REFERENCE   10 (residues 1 to 327)
  AUTHORS   Kuge O, Nishijima M and Akamatsu Y.
  TITLE     A Chinese hamster cDNA encoding a protein essential for
            phosphatidylserine synthase I activity
  JOURNAL   J Biol Chem 266 (35), 24184-24189 (1991)
   PUBMED   1748687
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY087183.1, BC002376.2,
            BM459031.1 and AP003465.2.
            
            Summary: The protein encoded by this gene catalyzes the formation
            of phosphatidylserine from either phosphatidylcholine or
            phosphatidylethanolamine. Phosphatidylserine localizes to the
            mitochondria-associated membrane of the endoplasmic reticulum,
            where it serves a structural role as well as a signaling role.
            Defects in this gene are a cause of Lenz-Majewski hyperostotic
            dwarfism. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (2) lacks two consecutive
            alternate exons compared to variant 1. The resulting isoform (2) is
            shorter at the N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC002376.2, SRR1803615.174207.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162328, SAMEA2162823
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.1"
     Protein         1..327
                     /product="phosphatidylserine synthase 1 isoform 2"
                     /EC_number="2.7.8.29"
                     /note="PSS-1; ptdSer synthase 1; serine-exchange enzyme I"
                     /calculated_mol_wt=38142
     Region          2..226
                     /region_name="PSS"
                     /note="Phosphatidyl serine synthase; pfam03034"
                     /db_xref="CDD:427108"
     CDS             1..327
                     /gene="PTDSS1"
                     /gene_synonym="LMHD; PSS1; PSSA"
                     /coded_by="NM_001290225.2:408..1391"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:9791"
                     /db_xref="HGNC:HGNC:9587"
                     /db_xref="MIM:612792"
ORIGIN      
        1 meyavnchvi tweriishfd ifafghfwgw amkallirsy glcwtisitw eltelffmhl
       61 lpnfaecwwd qvildillcn gggiwlgmvv crflemrtyh wasfkdihtt tgkikravlq
      121 ftpaswtyvr wfdpkssfqr vagvylfmii wqltelntff lkhifvfqas hplswgrilf
      181 iggitaptvr qyyayltdtq ckrvgtqcwv fgvigfleai vcikfgqdlf sktqilyvvl
      241 wllcvafttf lclygmiwya ehyghrekty secedgtysp eiswhhrkgt kgsedsppkh
      301 agnneshssr rrnrhskskv tngvgkk
//
LOCUS       NP_001005489             314 aa            linear   PRI 25-DEC-2022
DEFINITION  olfactory receptor 5B17 [Homo sapiens].
ACCESSION   NP_001005489
VERSION     NP_001005489.1
DBSOURCE    REFSEQ: accession NM_001005489.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 314)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000435.5.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357377.3/ ENSP00000349945.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..314
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     Protein         1..314
                     /product="olfactory receptor 5B17"
                     /note="olfactory receptor, family 5, subfamily B, member
                     20 pseudogene; olfactory receptor OR11-237; olfactory
                     receptor 5B20"
                     /calculated_mol_wt=34960
     Site            3
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NGF7.1)"
     Region          23..301
                     /region_name="7tmA_OR5B-like"
                     /note="olfactory receptor subfamily 5B and related
                     proteins, member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15407"
                     /db_xref="CDD:320529"
     Region          24..50
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320529"
     Site            24..44
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF7.1)"
     Site            53..73
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF7.1)"
     Region          57..83
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320529"
     Site            order(79,82..83,95..100,102..103,106,151,153..157,193,
                     196..198,200..202,204..205,250,253..254,256..257,260,
                     266..267,269..271,274,277..278)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320529"
     Region          95..125
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320529"
     Site            98..118
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF7.1)"
     Region          138..159
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320529"
     Site            138..158
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF7.1)"
     Region          193..223
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320529"
     Site            195..215
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF7.1)"
     Region          230..260
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320529"
     Site            236..256
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF7.1)"
     Region          267..292
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320529"
     Site            270..290
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF7.1)"
     CDS             1..314
                     /gene="OR5B17"
                     /gene_synonym="OR11-237; OR5B20P"
                     /coded_by="NM_001005489.2:1..945"
                     /db_xref="CCDS:CCDS31548.1"
                     /db_xref="GeneID:219965"
                     /db_xref="HGNC:HGNC:15267"
ORIGIN      
        1 menntevsef illgltnape lqvplfimft liylitltgn lgmiililld shlhtpmyff
       61 lsnlslagig yssavtpkvl tglliedkai sysacaaqmf fcavfatven yllssmaydr
      121 yaavcnplhy tttmttrvca claigcyvig flnasiqigd tfrlsfcmsn vihhffcdkp
      181 avitltcsek hiselilvli ssfnvffall vtlisylfil itilkrhtgk gyqkplstcg
      241 shliaiflfy itviimyirp ssshsmdtdk iasvfytmii pmlspivytl rnkdvknafm
      301 kvvekakysl dsvf
//
LOCUS       NP_001284704             279 aa            linear   PRI 25-DEC-2022
DEFINITION  12S rRNA N4-methylcytidine (m4C) methyltransferase isoform 3 [Homo
            sapiens].
ACCESSION   NP_001284704 XP_005252866
VERSION     NP_001284704.1
DBSOURCE    REFSEQ: accession NM_001297775.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 279)
  AUTHORS   Chen H, Shi Z, Guo J, Chang KJ, Chen Q, Yao CH, Haigis MC and Shi
            Y.
  TITLE     The human mitochondrial 12S rRNA m4C methyltransferase METTL15 is
            required for mitochondrial function
  JOURNAL   J Biol Chem 295 (25), 8505-8513 (2020)
   PUBMED   32371392
  REMARK    GeneRIF: The human mitochondrial 12S rRNA m(4)C methyltransferase
            METTL15 is required for mitochondrial function.
REFERENCE   2  (residues 1 to 279)
  AUTHORS   Van Haute L, Hendrick AG, D'Souza AR, Powell CA, Rebelo-Guiomar P,
            Harbour ME, Ding S, Fearnley IM, Andrews B and Minczuk M.
  TITLE     METTL15 introduces N4-methylcytidine into human mitochondrial 12S
            rRNA and is required for mitoribosome biogenesis
  JOURNAL   Nucleic Acids Res 47 (19), 10267-10281 (2019)
   PUBMED   31665743
REFERENCE   3  (residues 1 to 279)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA
            and Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA800481.1, BC066900.1, AC023206.6, AC104978.2 and AC087376.5.
            On Jul 10, 2014 this sequence version replaced XP_005252866.1.
            
            Transcript Variant: This variant (3) uses an alternate in-frame
            splice junction at the 5' end of an exon compared to variant 1. The
            resulting isoform (3) has a shorter and distinct C-terminus
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.259086.1,
                                           SRR1660805.132447.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..279
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p14.1"
     Protein         1..279
                     /product="12S rRNA N4-methylcytidine (m4C)
                     methyltransferase isoform 3"
                     /EC_number="2.1.1.-"
                     /note="methyltransferase 5 domain containing 1; putative
                     S-adenosyl-L-methionine-dependent methyltransferase
                     METT5D1; probable S-adenosyl-L-methionine-dependent
                     methyltransferase METT5D1; probable methyltransferase-like
                     protein 15; methyltransferase 5 domain-containing protein
                     1; 12S rRNA m4C methyltransferase; 12S rRNA
                     N4-methylcytidine (m4C) methyltransferase"
                     /calculated_mol_wt=31569
     Region          67..>197
                     /region_name="RmsH"
                     /note="16S rRNA C1402 N4-methylase RsmH [Translation,
                     ribosomal structure and biogenesis]; COG0275"
                     /db_xref="CDD:223352"
     CDS             1..279
                     /gene="METTL15"
                     /gene_synonym="METT5D1"
                     /coded_by="NM_001297775.2:319..1158"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS73269.1"
                     /db_xref="GeneID:196074"
                     /db_xref="HGNC:HGNC:26606"
                     /db_xref="MIM:618711"
ORIGIN      
        1 mlrypyfcrm ykeclscwle sgipnlgvwp nrihttaeky reyeareqtd qtqaqelhrs
       61 qdrdfetmak lhipvmvdev vhclspqkgq ifldmtfgsg ghtkailqke sdivlyaldr
      121 dptayalaeh lselypkqir amlgqfsqae allmkagvqp gtfdgvlmdl gcssmqldtp
      181 ergfslrkdg pldmrmdggr stgtciypkn irggeacqen rfsncsgtqh lphhqnpaac
      241 qhrcrsissl cylyterltt aiypychqdf pgsshiceq
//
LOCUS       NP_000346                427 aa            linear   PRI 25-DEC-2022
DEFINITION  transcobalamin-2 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_000346
VERSION     NP_000346.2
DBSOURCE    REFSEQ: accession NM_000355.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 427)
  AUTHORS   Kwon BN, Lee NR, Kim HJ, Kang YD, Kim JS, Park JW and Jin HJ.
  TITLE     Folate metabolizing gene polymorphisms and genetic vulnerability to
            preterm birth in Korean women
  JOURNAL   Genes Genomics 43 (8), 937-945 (2021)
   PUBMED   34027569
  REMARK    GeneRIF: Folate metabolizing gene polymorphisms and genetic
            vulnerability to preterm birth in Korean women.
REFERENCE   2  (residues 1 to 427)
  AUTHORS   Liu J, Jiang Y, Liu D, Zhang H, Chen T, Zhang G, Liu H, DU S, Lin
            Z, Jin Y and Li X.
  TITLE     Relationship between cobalt transporter II gene rs9606756 site
            mutant and serum homocysteine level and recurrent cerebral
            infarction in young and middle-aged people
  JOURNAL   Minerva Med 112 (2), 261-268 (2021)
   PUBMED   32207595
  REMARK    GeneRIF: Relationship between cobalt transporter II gene rs9606756
            site mutant and serum homocysteine level and recurrent cerebral
            infarction in young and middle-aged people.
REFERENCE   3  (residues 1 to 427)
  AUTHORS   Boachie J, Adaikalakoteswari A, Goljan I, Samavat J, Cagampang FR
            and Saravanan P.
  TITLE     Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are
            Modulated by CD320 Receptor and TCN2 Transporter
  JOURNAL   Int J Mol Sci 22 (6), 3089 (2021)
   PUBMED   33803025
  REMARK    GeneRIF: Intracellular and Tissue Levels of Vitamin B12 in
            Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 427)
  AUTHORS   Kose E, Besci O, Gudeloglu E, Suncak S, Oymak Y, Ozen S and Isguder
            R.
  TITLE     Transcobalamin II deficiency in twins with a novel variant in the
            TCN2 gene: case report and review of literature
  JOURNAL   J Pediatr Endocrinol Metab 33 (11), 1487-1499 (2020)
   PUBMED   32841161
  REMARK    GeneRIF: Transcobalamin II deficiency in twins with a novel variant
            in the TCN2 gene: case report and review of literature.
            Review article
REFERENCE   5  (residues 1 to 427)
  AUTHORS   Ahn TK, Kim JO, An HJ, Park HS, Choi UY, Sohn S, Kim KT, Kim NK and
            Han IB.
  TITLE     3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with
            Osteoporosis and Osteoporotic Vertebral Compression Fractures
            (OVCFs) in Postmenopausal Women
  JOURNAL   Genes (Basel) 11 (6), 612 (2020)
   PUBMED   32498429
  REMARK    GeneRIF: 3'-UTR Polymorphisms of Vitamin B-Related Genes Are
            Associated with Osteoporosis and Osteoporotic Vertebral Compression
            Fractures (OVCFs) in Postmenopausal Women.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 427)
  AUTHORS   Platica O, Janeczko R, Quadros EV, Regec A, Romain R and Rothenberg
            SP.
  TITLE     The cDNA sequence and the deduced amino acid sequence of human
            transcobalamin II show homology with rat intrinsic factor and human
            transcobalamin I
  JOURNAL   J Biol Chem 266 (12), 7860-7863 (1991)
   PUBMED   1708393
REFERENCE   7  (residues 1 to 427)
  AUTHORS   Barshop BA, Wolff J, Nyhan WL, Yu A, Prodanos C, Jones G, Sweetman
            L, Leslie J, Holm J, Green R et al.
  TITLE     Transcobalamin II deficiency presenting with methylmalonic aciduria
            and homocystinuria and abnormal absorption of cobalamin
  JOURNAL   Am J Med Genet 35 (2), 222-228 (1990)
   PUBMED   2309761
REFERENCE   8  (residues 1 to 427)
  AUTHORS   Arwert,F., Porck,H.J., Frater-Schroder,M., Brahe,C., Geurts van
            Kessel,A., Westerveld,A., Meera Khan,P., Zang,K., Frants,R.R.,
            Kortbeek,H.T. et al.
  TITLE     Assignment of human transcobalamin II (TC2) to chromosome 22 using
            somatic cell hybrids and monosomic meningioma cells
  JOURNAL   Hum Genet 74 (4), 378-381 (1986)
   PUBMED   3466852
REFERENCE   9  (residues 1 to 427)
  AUTHORS   Eiberg,H., Moller,N., Mohr,J. and Nielsen,L.S.
  TITLE     Linkage of transcobalamin II (TC2) to the P blood group system and
            assignment to chromosome 22
  JOURNAL   Clin Genet 29 (5), 354-359 (1986)
   PUBMED   3461892
REFERENCE   10 (residues 1 to 427)
  AUTHORS   Daiger,S.P., Labowe,M.L., Parsons,M., Wang,L. and
            Cavalli-Sforza,L.L.
  TITLE     Detection of genetic variation with radioactive ligands. III.
            genetic polymorphism of transcobalamin II in human plasma
  JOURNAL   Am J Hum Genet 30 (2), 202-214 (1978)
   PUBMED   655167
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005006.2 and BC001176.1.
            On May 22, 2002 this sequence version replaced NP_000346.1.
            
            Summary: This gene encodes a member of the vitamin B12-binding
            protein family. This family of proteins, alternatively referred to
            as R binders, is expressed in various tissues and secretions. This
            plasma protein binds cobalamin and mediates the transport of
            cobalamin into cells. This protein and other mammalian
            cobalamin-binding proteins, such as transcobalamin I and gastric
            intrisic factor, may have evolved by duplication of a common
            ancestral gene. Alternative splicing results in multiple transcript
            variants.[provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.24728.1,
                                           SRR1803612.232228.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000215838.8/ ENSP00000215838.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..427
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..427
                     /product="transcobalamin-2 isoform 1 precursor"
                     /note="macrocytic anemia; transcobalamin II; macrocytic
                     anemia; vitamin B12-binding protein 2"
                     /calculated_mol_wt=45624
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1929
     mat_peptide     19..427
                     /product="transcobalamin-2 isoform 1"
                     /calculated_mol_wt=45624
     Region          19..328
                     /region_name="Cobalamin_bind"
                     /note="Eukaryotic cobalamin-binding protein; pfam01122"
                     /db_xref="CDD:426063"
     Region          352..426
                     /region_name="DUF4430"
                     /note="Domain of unknown function (DUF4430); pfam14478"
                     /db_xref="CDD:433979"
     CDS             1..427
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /coded_by="NM_000355.4:159..1442"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS13881.1"
                     /db_xref="GeneID:6948"
                     /db_xref="HGNC:HGNC:11653"
                     /db_xref="MIM:613441"
ORIGIN      
        1 mrhlgaflfl lgvlgaltem ceipemdshl veklgqhllp wmdrlslehl npsiyvglrl
       61 sslqagtked lylhslklgy qqcllgsafs eddgdcqgkp smgqlalyll alrancefvr
      121 ghkgdrlvsq lkwfledekr aighdhkghp htsyyqyglg ilalclhqkr vhdsvvdkll
      181 yavepfhqgh hsvdtaamag laftclkrsn fnpgrrqrit mairtvreei lkaqtpeghf
      241 gnvystplal qflmtspmrg aelgtaclka rvallaslqd gafqnalmis qllpvlnhkt
      301 yidlifpdcl aprvmlepaa etipqtqeii svtlqvlsll ppyrqsisvl agstvedvlk
      361 kahelggfty etqaslsgpy ltsvmgkaag erefwqllrd pntpllqgia dyrpkdgeti
      421 elrlvsw
//
LOCUS       NP_059980                235 aa            linear   PRI 25-DEC-2022
DEFINITION  transmembrane emp24 domain-containing protein 9 precursor [Homo
            sapiens].
ACCESSION   NP_059980
VERSION     NP_059980.2
DBSOURCE    REFSEQ: accession NM_017510.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 235)
  AUTHORS   Li S, Yan R, Xu J, Zhao S, Ma X, Sun Q, Zhang M, Li Y, Liu JG, Chen
            L, Li S, Xu K and Ge L.
  TITLE     A new type of ERGIC-ERES membrane contact mediated by TMED9 and
            SEC12 is required for autophagosome biogenesis
  JOURNAL   Cell Res 32 (2), 119-138 (2022)
   PUBMED   34561617
REFERENCE   2  (residues 1 to 235)
  AUTHORS   Ju G, Xu C, Zeng K, Zhou T and Zang L.
  TITLE     High expression of transmembrane P24 trafficking protein 9 predicts
            poor prognosis in breast carcinoma
  JOURNAL   Bioengineered 12 (1), 8965-8979 (2021)
   PUBMED   34635011
  REMARK    GeneRIF: High expression of transmembrane P24 trafficking protein 9
            predicts poor prognosis in breast carcinoma.
REFERENCE   3  (residues 1 to 235)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 235)
  AUTHORS   Mishra S, Bernal C, Silvano M, Anand S and Ruiz I Altaba A.
  TITLE     The protein secretion modulator TMED9 drives CNIH4/TGFalpha/GLI
            signaling opposing TMED3-WNT-TCF to promote colon cancer metastases
  JOURNAL   Oncogene 38 (29), 5817-5837 (2019)
   PUBMED   31253868
  REMARK    GeneRIF: TMED9/TMED3 antagonism impacts WNT-TCF and GLI signaling,
            where TMED9 primacy over TMED3 leads to the establishment of a
            positive feedback loop together with CNIH4, TGFalpha, and GLI1 that
            enhances metastases
REFERENCE   5  (residues 1 to 235)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA
            and Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   6  (residues 1 to 235)
  AUTHORS   Zhang H, Li XJ, Martin DB and Aebersold R.
  TITLE     Identification and quantification of N-linked glycoproteins using
            hydrazide chemistry, stable isotope labeling and mass spectrometry
  JOURNAL   Nat Biotechnol 21 (6), 660-666 (2003)
   PUBMED   12754519
REFERENCE   7  (residues 1 to 235)
  AUTHORS   Jenne N, Frey K, Brugger B and Wieland FT.
  TITLE     Oligomeric state and stoichiometry of p24 proteins in the early
            secretory pathway
  JOURNAL   J Biol Chem 277 (48), 46504-46511 (2002)
   PUBMED   12237308
REFERENCE   8  (residues 1 to 235)
  AUTHORS   Renz M, Tomlinson E, Hultgren B, Levin N, Gu Q, Shimkets RA, Lewin
            DA and Stewart TA.
  TITLE     Quantitative expression analysis of genes regulated by both obesity
            and leptin reveals a regulatory loop between leptin and
            pituitary-derived ACTH
  JOURNAL   J Biol Chem 275 (14), 10429-10436 (2000)
   PUBMED   10744732
REFERENCE   9  (residues 1 to 235)
  AUTHORS   Shevchenko A, Keller P, Scheiffele P, Mann M and Simons K.
  TITLE     Identification of components of trans-Golgi network-derived
            transport vesicles and detergent-insoluble complexes by
            nanoelectrospray tandem mass spectrometry
  JOURNAL   Electrophoresis 18 (14), 2591-2600 (1997)
   PUBMED   9527489
REFERENCE   10 (residues 1 to 235)
  AUTHORS   Wada I, Rindress D, Cameron PH, Ou WJ, Doherty JJ 2nd, Louvard D,
            Bell AW, Dignard D, Thomas DY and Bergeron JJ.
  TITLE     SSR alpha and associated calnexin are major calcium binding
            proteins of the endoplasmic reticulum membrane
  JOURNAL   J Biol Chem 266 (29), 19599-19610 (1991)
   PUBMED   1918067
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP290332.1, BC001123.2 and
            AC139795.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 11, 2003 this sequence version replaced NP_059980.1.
            
            Summary: This gene is a member of a family of genes encoding
            transport proteins located in the endoplasmic reticulum and the
            Golgi. A similar gene in mouse is the target of microRNA miR-296,
            which is part of an imprinted cluster. [provided by RefSeq, Jul
            2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.164109.1,
                                           SRR7410570.255187.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332598.7/ ENSP00000330945.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..235
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     Protein         1..235
                     /product="transmembrane emp24 domain-containing protein 9
                     precursor"
                     /note="glycoprotein 25L2; p24 family protein alpha-2;
                     transmembrane emp24 protein transport domain containing 9"
                     /calculated_mol_wt=23322
     sig_peptide     1..37
                     /note="/evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (Q9BVK6.2)"
                     /calculated_mol_wt=3974
     Region          37..230
                     /region_name="EMP24_GP25L"
                     /note="emp24/gp25L/p24 family/GOLD; pfam01105"
                     /db_xref="CDD:426051"
     mat_peptide     38..235
                     /product="Transmembrane emp24 domain-containing protein 9.
                     /id=PRO_0000010396"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BVK6.2)"
                     /calculated_mol_wt=23322
     Region          121..160
                     /region_name="Required for interaction with STX17.
                     /evidence=ECO:0000269|PubMed:21545355"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BVK6.2)"
     Site            125
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q9BVK6.2)"
     Site            160
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q99KF1; propagated from
                     UniProtKB/Swiss-Prot (Q9BVK6.2)"
     Site            203..222
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BVK6.2)"
     Region          228..235
                     /region_name="COPI vesicle coat-binding.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BVK6.2)"
     Region          228..229
                     /region_name="COPII vesicle coat-binding.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BVK6.2)"
     CDS             1..235
                     /gene="TMED9"
                     /gene_synonym="GMP25; HSGP25L2G; p24a2; p24alpha2; p25"
                     /coded_by="NM_017510.6:13..720"
                     /db_xref="CCDS:CCDS4428.1"
                     /db_xref="GeneID:54732"
                     /db_xref="HGNC:HGNC:24878"
ORIGIN      
        1 mavelgvllv rprpgtglgr vmrtlllvlw latrgsalyf higetekkcf ieeipdetmv
       61 ignyrtqlyd kqreeyqpat pglgmfvevk dpedkvilar qygsegrftf tshtpgehqi
      121 clhsnstkfs lfaggmlrvh ldiqvgehan dyaeiaakdk lselqlrvrq lveqveqiqk
      181 eqnyqrwree rfrqtsestn qrvlwwsilq tlilvaigvw qmrhlksffe akklv
//
LOCUS       NP_001018068             318 aa            linear   PRI 25-DEC-2022
DEFINITION  transcription factor EC isoform b [Homo sapiens].
ACCESSION   NP_001018068
VERSION     NP_001018068.1
DBSOURCE    REFSEQ: accession NM_001018058.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 318)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   2  (residues 1 to 318)
  AUTHORS   Haq R and Fisher DE.
  TITLE     Biology and clinical relevance of the micropthalmia family of
            transcription factors in human cancer
  JOURNAL   J Clin Oncol 29 (25), 3474-3482 (2011)
   PUBMED   21670463
REFERENCE   3  (residues 1 to 318)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   4  (residues 1 to 318)
  AUTHORS   Kuiper RP, Schepens M, Thijssen J, Schoenmakers EF and van Kessel
            AG.
  TITLE     Regulation of the MiTF/TFE bHLH-LZ transcription factors through
            restricted spatial expression and alternative splicing of
            functional domains
  JOURNAL   Nucleic Acids Res 32 (8), 2315-2322 (2004)
   PUBMED   15118077
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 318)
  AUTHORS   Mansky KC, Sulzbacher S, Purdom G, Nelsen L, Hume DA, Rehli M and
            Ostrowski MC.
  TITLE     The microphthalmia transcription factor and the related
            helix-loop-helix zipper factors TFE-3 and TFE-C collaborate to
            activate the tartrate-resistant acid phosphatase promoter
  JOURNAL   J Leukoc Biol 71 (2), 304-310 (2002)
   PUBMED   11818452
REFERENCE   6  (residues 1 to 318)
  AUTHORS   Chung MC, Kim HK and Kawamoto S.
  TITLE     TFEC can function as a transcriptional activator of the nonmuscle
            myosin II heavy chain-A gene in transfected cells
  JOURNAL   Biochemistry 40 (30), 8887-8897 (2001)
   PUBMED   11467950
  REMARK    GeneRIF: Two alternatively spliced TFEC isoforms have been found to
            be sequence-specific transcriptional activators of the nonmuscle
            myosin II heavy chain-A gene in transfected cells.
REFERENCE   7  (residues 1 to 318)
  AUTHORS   Yasumoto K and Shibahara S.
  TITLE     Molecular cloning of cDNA encoding a human TFEC isoform, a newly
            identified transcriptional regulator
  JOURNAL   Biochim Biophys Acta 1353 (1), 23-31 (1997)
   PUBMED   9256061
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073141.4 and AC096551.1.
            
            Summary: This gene encodes a member of the micropthalmia (MiT)
            family of basic helix-loop-helix leucine zipper transcription
            factors. MiT transcription factors regulate the expression of
            target genes by binding to E-box recognition sequences as homo- or
            heterodimers, and play roles in multiple cellular processes
            including survival, growth and differentiation. The encoded protein
            is a transcriptional activator of the nonmuscle myosin II heavy
            chain-A gene, and may also co-regulate target genes in osteoclasts
            as a heterodimer with micropthalmia-associated transcription
            factor. Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Sep
            2011].
            
            Transcript Variant: This variant (2) lacks an exon in the coding
            region, but maintains the reading frame, compared to variant 1. The
            encoded isoform (b) is shorter that isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR933605.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267769 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..318
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.2"
     Protein         1..318
                     /product="transcription factor EC isoform b"
                     /note="class E basic helix-loop-helix protein 34"
                     /calculated_mol_wt=35403
     Region          107..191
                     /region_name="bHLHzip_TFEC"
                     /note="basic Helix-Loop-Helix-zipper (bHLHzip) domain
                     found in transcription factor EC (TFEC) and similar
                     proteins; cd18925"
                     /db_xref="CDD:381495"
     Site            order(115..116,118..119,122..123,127,148..149)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381495"
     Site            order(125..126,129..130,132,136,149,153..154,157,159..161,
                     163..164,166..167,170,173..175)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381495"
     Region          196..315
                     /region_name="DUF3371"
                     /note="Domain of unknown function (DUF3371); pfam11851"
                     /db_xref="CDD:432129"
     CDS             1..318
                     /gene="TFEC"
                     /gene_synonym="bHLHe34; hTFEC-L; TCFEC; TFE-C; TFEC-L;
                     TFECL"
                     /coded_by="NM_001018058.3:204..1160"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS34738.1"
                     /db_xref="GeneID:22797"
                     /db_xref="HGNC:HGNC:11754"
                     /db_xref="MIM:604732"
ORIGIN      
        1 mtldhqiinp tlkwsqpavp sggplvqhah ttldsdaglt enpltkllai gkeddnaqwh
       61 lsgsildvys geqgispinm gltsascpss lpmkreitet dtralakerq kkdnhnlier
      121 rrryninyri kelgtlipks ndpdmrwnkg tilkasveyi kwlqkeqqra relehrqkkl
      181 eqanrrlllr iqeleiqart hglptlaslg tvdlgahvtk qqshpeqnsv dycqqltvsq
      241 gpspelcdqa iafsdplsyf tdlsfsaalk eeqrldgmll ddtispfgtd pllsatspav
      301 skessrrssf ssddgdel
//
LOCUS       NP_001104506             325 aa            linear   PRI 25-DEC-2022
DEFINITION  tartrate-resistant acid phosphatase type 5 precursor [Homo
            sapiens].
ACCESSION   NP_001104506
VERSION     NP_001104506.1
DBSOURCE    REFSEQ: accession NM_001111036.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 325)
  AUTHORS   Gossiel F, Ugur A, Peel NFA, Walsh JS and Eastell R.
  TITLE     The clinical utility of TRACP-5b to monitor anti-resorptive
            treatments of osteoporosis
  JOURNAL   Osteoporos Int 33 (6), 1357-1363 (2022)
   PUBMED   35102444
  REMARK    GeneRIF: The clinical utility of TRACP-5b to monitor
            anti-resorptive treatments of osteoporosis.
REFERENCE   2  (residues 1 to 325)
  AUTHORS   Hu Y, Wang Q, Yu J, Zhou Q, Deng Y, Liu J, Zhang L, Xu Y, Xiong W
            and Wang Y.
  TITLE     Tartrate-resistant acid phosphatase 5 promotes pulmonary fibrosis
            by modulating beta-catenin signaling
  JOURNAL   Nat Commun 13 (1), 114 (2022)
   PUBMED   35013220
  REMARK    GeneRIF: Tartrate-resistant acid phosphatase 5 promotes pulmonary
            fibrosis by modulating beta-catenin signaling.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 325)
  AUTHORS   Nakamura M, Aoyama N, Yamaguchi S and Sasano Y.
  TITLE     Expression of tartrate-resistant acid phosphatase and cathepsin K
            during osteoclast differentiation in developing mouse mandibles
  JOURNAL   Biomed Res 42 (1), 13-21 (2021)
   PUBMED   33563875
  REMARK    GeneRIF: Expression of tartrate-resistant acid phosphatase and
            cathepsin K during osteoclast differentiation in developing mouse
            mandibles.
REFERENCE   4  (residues 1 to 325)
  AUTHORS   Bai,X., He,C., Fu,B., Kong,X., Bu,J., Zhu,K., Zheng,W., Zhou,F. and
            Ni,B.
  TITLE     microRNA-877 contributes to decreased non-small cell lung cancer
            cell growth via the PI3K/AKT pathway by targeting tartrate
            resistant acid phosphatase 5 activity
  JOURNAL   Cell Cycle 19 (23), 3260-3276 (2020)
   PUBMED   33222607
  REMARK    GeneRIF: microRNA-877 contributes to decreased non-small cell lung
            cancer cell growth via the PI3K/AKT pathway by targeting tartrate
            resistant acid phosphatase 5 activity.
REFERENCE   5  (residues 1 to 325)
  AUTHORS   Hernandez M, Baeza M, Contreras J, Sorsa T, Tervahartiala T, Valdes
            M, Chaparro A and Hernandez-Rios P.
  TITLE     MMP-8, TRAP-5, and OPG Levels in GCF Diagnostic Potential to
            Discriminate between Healthy Patients', Mild and Severe
            Periodontitis Sites
  JOURNAL   Biomolecules 10 (11), 1500 (2020)
   PUBMED   33143325
  REMARK    GeneRIF: MMP-8, TRAP-5, and OPG Levels in GCF Diagnostic Potential
            to Discriminate between Healthy Patients', Mild and Severe
            Periodontitis Sites.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 325)
  AUTHORS   Hayman AR, Dryden AJ, Chambers TJ and Warburton MJ.
  TITLE     Tartrate-resistant acid phosphatase from human osteoclastomas is
            translated as a single polypeptide
  JOURNAL   Biochem J 277 (Pt 3) (Pt 3), 631-634 (1991)
   PUBMED   1872798
REFERENCE   7  (residues 1 to 325)
  AUTHORS   Lord DK, Cross NC, Bevilacqua MA, Rider SH, Gorman PA, Groves AV,
            Moss DW, Sheer D and Cox TM.
  TITLE     Type 5 acid phosphatase. Sequence, expression and chromosomal
            localization of a differentiation-associated protein of the human
            macrophage
  JOURNAL   Eur J Biochem 189 (2), 287-293 (1990)
   PUBMED   2338077
  REMARK    Erratum:[Eur J Biochem 1990 Aug 17;191(3):775]
REFERENCE   8  (residues 1 to 325)
  AUTHORS   Stepan JJ, Lau KH, Mohan S, Singer FR and Baylink DJ.
  TITLE     Purification and N-terminal amino acid sequence of the
            tartrate-resistant acid phosphatase from human osteoclastoma:
            evidence for a single structure
  JOURNAL   Biochem Biophys Res Commun 168 (2), 792-800 (1990)
   PUBMED   2334436
REFERENCE   9  (residues 1 to 325)
  AUTHORS   Stepan JJ, Lau KH, Mohan S, Kraenzlin M and Baylink DJ.
  TITLE     Purification and N-terminal sequence of two tartrate-resistant acid
            phosphatases type-5 from the hairy cell leukemia spleen
  JOURNAL   Biochem Biophys Res Commun 165 (3), 1027-1034 (1989)
   PUBMED   2610679
REFERENCE   10 (residues 1 to 325)
  AUTHORS   Allen BS, Ketcham CM, Roberts RM, Nick HS and Ostrer H.
  TITLE     Localization of the human type 5, tartrate-resistant acid
            phosphatase gene by in situ hybridization
  JOURNAL   Genomics 4 (4), 597-600 (1989)
   PUBMED   2473026
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX365007.2 and BC025414.2.
            
            Summary: This gene encodes an iron containing glycoprotein which
            catalyzes the conversion of orthophosphoric monoester to alcohol
            and orthophosphate. It is the most basic of the acid phosphatases
            and is the only form not inhibited by L(+)-tartrate. [provided by
            RefSeq, Aug 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1-5 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138512.69601.1,
                                           SRR1163657.95075.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..325
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     Protein         1..325
                     /product="tartrate-resistant acid phosphatase type 5
                     precursor"
                     /EC_number="3.1.3.2"
                     /note="tartrate-resistant acid phosphatase type 5;
                     tartrate-resistant acid ATPase; human purple acid
                     phosphatase; tartrate-resistant acid phosphatase 5a;
                     tartrate-resistant acid phosphatase 5b"
                     /calculated_mol_wt=34331
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2286
     mat_peptide     22..325
                     /product="Tartrate-resistant acid phosphatase type 5.
                     /id=PRO_0000023981"
                     /note="propagated from UniProtKB/Swiss-Prot (P13686.3)"
                     /calculated_mol_wt=34331
     Region          26..311
                     /region_name="MPP_ACP5"
                     /note="Homo sapiens acid phosphatase 5 and related
                     proteins, metallophosphatase domain; cd07378"
                     /db_xref="CDD:277324"
     Site            order(33,71,74,110,205,214,240,242)
                     /site_type="active"
                     /db_xref="CDD:277324"
     Site            order(33,71,74,110,205,240,242)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:277324"
     Site            116
                     /site_type="other"
                     /note="N-glycosylation site [posttranslational
                     modification]"
                     /db_xref="CDD:277324"
     Site            116
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15993892; propagated from
                     UniProtKB/Swiss-Prot (P13686.3)"
     Site            147
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P13686.3)"
     CDS             1..325
                     /gene="ACP5"
                     /gene_synonym="HPAP; TRAcP; TRACP5a; TRACP5b; TRAP;
                     TrATPase"
                     /coded_by="NM_001111036.3:220..1197"
                     /db_xref="CCDS:CCDS12265.1"
                     /db_xref="GeneID:54"
                     /db_xref="HGNC:HGNC:124"
                     /db_xref="MIM:171640"
ORIGIN      
        1 mdmwtallil qalllpslad gatpalrfva vgdwggvpna pfhtareman akeiartvqi
       61 lgadfilslg dnfyftgvqd indkrfqetf edvfsdrslr kvpwyvlagn hdhlgnvsaq
      121 iayskiskrw nfpspfyrlh fkipqtnvsv aifmldtvtl cgnsddflsq qperprdvkl
      181 artqlswlkk qlaaaredyv lvaghypvws iaehgpthcl vkqlrpllat ygvtaylcgh
      241 dhnlqylqde ngvgyvlsga gnfmdpskrh qrkvpngylr fhygtedslg gfayveissk
      301 emtvtyieas gkslfktrlp rrarp
//
LOCUS       NP_001243548             792 aa            linear   PRI 26-DEC-2022
DEFINITION  coiled-coil domain-containing protein R3HCC1L isoform 1 [Homo
            sapiens].
ACCESSION   NP_001243548
VERSION     NP_001243548.2
DBSOURCE    REFSEQ: accession NM_001256619.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 792)
  AUTHORS   Kashima I, Jonas S, Jayachandran U, Buchwald G, Conti E, Lupas AN
            and Izaurralde E.
  TITLE     SMG6 interacts with the exon junction complex via two conserved
            EJC-binding motifs (EBMs) required for nonsense-mediated mRNA decay
  JOURNAL   Genes Dev 24 (21), 2440-2450 (2010)
   PUBMED   20930030
REFERENCE   2  (residues 1 to 792)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe
            JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C,
            Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J,
            White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L,
            Morris JC, Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 792)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD,
            Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird
            G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson
            T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan
            S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou
            T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore
            N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J,
            Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead
            SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T,
            Doucette-Stamm L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   4  (residues 1 to 792)
  AUTHORS   Page N, Butlin D, Manyonda I and Lowry P.
  TITLE     The development of a genetic profile of placental gene expression
            during the first trimester of pregnancy: a potential tool for
            identifying novel secreted markers
  JOURNAL   Fetal Diagn Ther 15 (4), 237-245 (2000)
   PUBMED   10867487
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355301.9 and AL139241.11.
            On Jun 2, 2019 this sequence version replaced NP_001243548.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF525304.1, SRR14038191.1416363.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2145313
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..792
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     Protein         1..792
                     /product="coiled-coil domain-containing protein R3HCC1L
                     isoform 1"
                     /note="growth inhibition and differentiation-related
                     protein 88; growth inhibition and differentiation related
                     protein 86; putative mitochondrial space protein 32.1; R3H
                     and coiled-coil domain-containing protein 1-like;
                     coiled-coil domain-containing protein R3HCC1L"
                     /calculated_mol_wt=87752
     Region          7..27
                     /region_name="EJC-binding motif, may mediate interaction
                     with the EJC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z5L2.3)"
     Region          32..61
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z5L2.3)"
     Region          527..567
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z5L2.3)"
     Region          644..708
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     Site            688
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7Z5L2.3)"
     Site            712
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8BJM3; propagated from
                     UniProtKB/Swiss-Prot (Q7Z5L2.3)"
     Region          772..792
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z5L2.3)"
     CDS             1..792
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /coded_by="NM_001256619.2:318..2696"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS73178.1"
                     /db_xref="GeneID:27291"
                     /db_xref="HGNC:HGNC:23512"
ORIGIN      
        1 mqqesercrv rarrpdmaly vpkarrgavl lktgdeeesc gspnsvvkek qkesslsqke
       61 vfkdkpearr lninpdrkeh ncreekksst klrmdtclqk tnrvcskrgt teskevlsqg
      121 qqqgapnagv itnaplqrhf kpkkveclev ettdvtgher illsqaclei seaqvpskpf
      181 qnvefcdfsr hepdgeafed kdlegrietd tkvleilyef prvfssvmkp enmivpikls
      241 sdseivqqsm qtsdgilnps sggitttsvp gspdgvfdqt cvdfevesvg gianstgfil
      301 dqkdtdsipa tmghislses tndtvspvmi recekndsta delhvkhepp dtavlaheth
      361 rdsgfknvgd itnkacmmdt tgmscsdhvt vdspyvvavr iadetsintr sfskfvgmsa
      421 datplhvars gndtedfsnp sacsdiyges isshftestg klieslsdca sslpikkiag
      481 snyntfldse lsmlngtkvl sdsavgidlg stgdttealh elrtaeefkt eeqddsgsie
      541 fgvsfpdres ssmetsiepk atetshtegi taieeswesm fnddgdcldp rllqegilmh
      601 ikpenhcskl sgntksresi qeprsdyynh evpdidlsdc efphvieiyd fpqefhtedl
      661 lrvfcsyqkk gfdikwvddt halgvfsspi tardalgikh tmvkirplsq atraakakar
      721 ayaeflqpak erpetsaala rrlvisalgv rskqsktere aelkklqear erkrleakqr
      781 ediwegrdqs tv
//
LOCUS       NP_863655                350 aa            linear   PRI 26-DEC-2022
DEFINITION  cytosolic acyl coenzyme A thioester hydrolase isoform hBACHc [Homo
            sapiens].
ACCESSION   NP_863655
VERSION     NP_863655.1
DBSOURCE    REFSEQ: accession NM_181865.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 350)
  AUTHORS   St Clair LA, Mills SA, Lian E, Soma PS, Nag A, Montgomery C,
            Ramirez G, Chotiwan N, Gullberg RC and Perera R.
  TITLE     Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty
            Acids Modulates Dengue Virus Serotype 2 Replication
  JOURNAL   Viruses 14 (2), 240 (2022)
   PUBMED   35215835
  REMARK    GeneRIF: Acyl-Coa Thioesterases: A Rheostat That Controls Activated
            Fatty Acids Modulates Dengue Virus Serotype 2 Replication.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 350)
  AUTHORS   Feng H and Liu X.
  TITLE     Interaction between ACOT7 and LncRNA NMRAL2P via Methylation
            Regulates Gastric Cancer Progression
  JOURNAL   Yonsei Med J 61 (6), 471-481 (2020)
   PUBMED   32469171
  REMARK    GeneRIF: NMRAL2P activation suppresses ACOT7 expression in gastric
            cancer.
REFERENCE   3  (residues 1 to 350)
  AUTHORS   Zhang X, Liu B, Zhang J, Yang X, Zhang G, Yang S, Wang J, Shi J, Hu
            K, Wang J, Jing H, Ke X and Fu L.
  TITLE     Expression level of ACOT7 influences the prognosis in acute myeloid
            leukemia patients
  JOURNAL   Cancer Biomark 26 (4), 441-449 (2019)
   PUBMED   31640082
  REMARK    GeneRIF: Patients in high ACOT7 group had a significant lower EFS
            and OS, while patients in high versus low expression levels of
            other types of ACOT showed no significant difference on the outcome
REFERENCE   4  (residues 1 to 350)
  AUTHORS   Lee HC, Jung SH, Hwang HJ, Kang D, De S, Dudekula DB, Martindale
            JL, Park B, Park SK, Lee EK, Lee JH, Jeong S, Han K, Park HJ, Ko
            YG, Gorospe M and Lee JS.
  TITLE     WIG1 is crucial for AGO2-mediated ACOT7 mRNA silencing via
            miRNA-dependent and -independent mechanisms
  JOURNAL   Nucleic Acids Res 45 (11), 6894-6910 (2017)
   PUBMED   28472401
  REMARK    GeneRIF: WIG1 governs the miRNA-dependent and the miRNA-independent
            recruitment of AGO2 to lower the stability of and suppress the
            translation of ACOT7 mRNA.
REFERENCE   5  (residues 1 to 350)
  AUTHORS   Jung SH, Lee HC, Hwang HJ, Park HA, Moon YA, Kim BC, Lee HM, Kim
            KP, Kim YN, Lee BL, Lee JC, Ko YG, Park HJ and Lee JS.
  TITLE     Acyl-CoA thioesterase 7 is involved in cell cycle progression via
            regulation of PKCzeta-p53-p21 signaling pathway
  JOURNAL   Cell Death Dis 8 (5), e2793 (2017)
   PUBMED   28518146
  REMARK    GeneRIF: PKCzeta was specifically involved in ACOT7
            depletion-mediated cell cycle arrest as an upstream molecule of the
            p53-p21 signaling pathway in MCF7 human breast carcinoma and A549
            human lung carcinoma cells.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 350)
  AUTHORS   Hunt MC, Yamada J, Maltais LJ, Wright MW, Podesta EJ and Alexson
            SE.
  TITLE     A revised nomenclature for mammalian acyl-CoA
            thioesterases/hydrolases
  JOURNAL   J Lipid Res 46 (9), 2029-2032 (2005)
   PUBMED   16103133
REFERENCE   7  (residues 1 to 350)
  AUTHORS   Yamada J.
  TITLE     Long-chain acyl-CoA hydrolase in the brain
  JOURNAL   Amino Acids 28 (3), 273-278 (2005)
   PUBMED   15731883
  REMARK    Review article
REFERENCE   8  (residues 1 to 350)
  AUTHORS   Yang JW, Czech T, Yamada J, Csaszar E, Baumgartner C, Slavc I and
            Lubec G.
  TITLE     Aberrant cytosolic acyl-CoA thioester hydrolase in hippocampus of
            patients with mesial temporal lobe epilepsy
  JOURNAL   Amino Acids 27 (3-4), 269-275 (2004)
   PUBMED   15592755
  REMARK    GeneRIF: BACH was deranged in hippocampus of mesial temporal lobe
            epilepsy patients.
REFERENCE   9  (residues 1 to 350)
  AUTHORS   Yamada J, Kuramochi Y, Takagi M, Watanabe T and Suga T.
  TITLE     Human brain acyl-CoA hydrolase isoforms encoded by a single gene
  JOURNAL   Biochem Biophys Res Commun 299 (1), 49-56 (2002)
   PUBMED   12435388
  REMARK    GeneRIF: the human BACH gene can express long-chain acyl-CoA
            hydrolase activity in multiple intracellular compartments by
            generating BACH isoforms with differential localization signals to
            affect various cellular functions that involve acyl-CoAs
REFERENCE   10 (residues 1 to 350)
  AUTHORS   Yamada J, Kurata A, Hirata M, Taniguchi T, Takama H, Furihata T,
            Shiratori K, Iida N, Takagi-Sakuma M, Watanabe T, Kurosaki K, Endo
            T and Suga T.
  TITLE     Purification, molecular cloning, and genomic organization of human
            brain long-chain acyl-CoA hydrolase
  JOURNAL   J Biochem 126 (6), 1013-1019 (1999)
   PUBMED   10578051
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031848.11, BU594651.1,
            AB074418.1 and BC017365.2.
            
            Summary: This gene encodes a member of the acyl coenzyme family.
            The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA
            and other long-chain fatty acids. Decreased expression of this gene
            may be associated with mesial temporal lobe epilepsy. Alternatively
            spliced transcript variants encoding distinct isoforms with
            different subcellular locations have been characterized. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (hBACHc) differs in the 5' UTR and
            5' coding region, compared to variant hBACHb. It encodes isoform
            hBACHc that has a shorter and distinct N-terminus, compared to
            isoform hBACHb, and may also be targetted to the mitochondria.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK292202.1, AB074418.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..350
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.31"
     Protein         1..350
                     /product="cytosolic acyl coenzyme A thioester hydrolase
                     isoform hBACHc"
                     /EC_number="3.1.2.2"
                     /note="cytosolic acyl coenzyme A thioester hydrolase;
                     brain acyl-CoA hydrolase; long chain acyl-CoA thioester
                     hydrolase; acyl-CoA thioesterase, long chain; acyl-CoA
                     thioesterase 2; CTE-IIa"
                     /calculated_mol_wt=38860
     Region          28..133
                     /region_name="BFIT_BACH"
                     /note="Brown fat-inducible thioesterase (BFIT). Brain
                     acyl-CoA hydrolase (BACH). These enzymes deacylate
                     long-chain fatty acids by hydrolyzing acyl-CoA thioesters
                     to free fatty acids and CoA-SH. Eukaryotic members of this
                     family are expressed in brain, testis; cd03442"
                     /db_xref="CDD:239526"
     Region          192..315
                     /region_name="BFIT_BACH"
                     /note="Brown fat-inducible thioesterase (BFIT). Brain
                     acyl-CoA hydrolase (BACH). These enzymes deacylate
                     long-chain fatty acids by hydrolyzing acyl-CoA thioesters
                     to free fatty acids and CoA-SH. Eukaryotic members of this
                     family are expressed in brain, testis; cd03442"
                     /db_xref="CDD:239526"
     CDS             1..350
                     /gene="ACOT7"
                     /gene_synonym="ACH1; ACT; BACH; CTE-II; hBACH; LACH;
                     LACH1"
                     /coded_by="NM_181865.3:63..1115"
                     /note="isoform hBACHc is encoded by transcript variant
                     hBACHc"
                     /db_xref="CCDS:CCDS66.1"
                     /db_xref="GeneID:11332"
                     /db_xref="HGNC:HGNC:24157"
                     /db_xref="MIM:602587"
ORIGIN      
        1 mlllrrslsl nvlrkevdra cfgekakqim rpddanvagn vhggtilkmi eeagaiistr
       61 hcnsqngerc vaalarvert dflspmcige vahvsaeity tskhsvevqv nvmseniltg
      121 akkltnkatl wyvplslknv dkvlevppvv ysrqeqeeeg rkryeaqkle rmetkwrngd
      181 ivqpvlnpep ntvsysqssl ihlvgpsdct lhgfvhggvt mklmdevagi vaarhcktni
      241 vtasvdainf hdkirkgcvi tisgrmtfts nksmeievlv dadpvvdssq kryraasaff
      301 tyvslsqegr slpvpqlvpe tedekkrfee gkgrylqmka krqghaepqp
//
LOCUS       NP_001308969             127 aa            linear   PRI 26-DEC-2022
DEFINITION  nuclear transport factor 2 [Homo sapiens].
ACCESSION   NP_001308969 XP_005255828
VERSION     NP_001308969.1
DBSOURCE    REFSEQ: accession NM_001322040.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 127)
  AUTHORS   Vukovic LD, Chen P, Mishra S, White KH, Gigley JP and Levy DL.
  TITLE     Nuclear Transport Factor 2 (NTF2) suppresses WM983B metastatic
            melanoma by modifying cell migration, metastasis, and gene
            expression
  JOURNAL   Sci Rep 11 (1), 23586 (2021)
   PUBMED   34880267
  REMARK    GeneRIF: Nuclear Transport Factor 2 (NTF2) suppresses WM983B
            metastatic melanoma by modifying cell migration, metastasis, and
            gene expression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 127)
  AUTHORS   Shen Q, Tian T, Xiong Q, Ellis Fisher PD, Xiong Y, Melia TJ, Lusk
            CP and Lin C.
  TITLE     DNA-Origami NanoTrap for Studying the Selective Barriers Formed by
            Phenylalanine-Glycine-Rich Nucleoporins
  JOURNAL   J Am Chem Soc 143 (31), 12294-12303 (2021)
   PUBMED   34324340
  REMARK    GeneRIF: DNA-Origami NanoTrap for Studying the Selective Barriers
            Formed by Phenylalanine-Glycine-Rich Nucleoporins.
REFERENCE   3  (residues 1 to 127)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 127)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 127)
  AUTHORS   Stewart M, Kent HM and McCoy AJ.
  TITLE     Structural basis for molecular recognition between nuclear
            transport factor 2 (NTF2) and the GDP-bound form of the Ras-family
            GTPase Ran
  JOURNAL   J Mol Biol 277 (3), 635-646 (1998)
   PUBMED   9533885
REFERENCE   6  (residues 1 to 127)
  AUTHORS   Clarkson WD, Corbett AH, Paschal BM, Kent HM, McCoy AJ, Gerace L,
            Silver PA and Stewart M.
  TITLE     Nuclear protein import is decreased by engineered mutants of
            nuclear transport factor 2 (NTF2) that do not bind GDP-Ran
  JOURNAL   J Mol Biol 272 (5), 716-730 (1997)
   PUBMED   9368653
REFERENCE   7  (residues 1 to 127)
  AUTHORS   Hu T, Guan T and Gerace L.
  TITLE     Molecular and functional characterization of the p62 complex, an
            assembly of nuclear pore complex glycoproteins
  JOURNAL   J Cell Biol 134 (3), 589-601 (1996)
   PUBMED   8707840
REFERENCE   8  (residues 1 to 127)
  AUTHORS   Bullock TL, Clarkson WD, Kent HM and Stewart M.
  TITLE     The 1.6 angstroms resolution crystal structure of nuclear transport
            factor 2 (NTF2)
  JOURNAL   J Mol Biol 260 (3), 422-431 (1996)
   PUBMED   8757804
REFERENCE   9  (residues 1 to 127)
  AUTHORS   Paschal BM and Gerace L.
  TITLE     Identification of NTF2, a cytosolic factor for nuclear import that
            interacts with nuclear pore complex protein p62
  JOURNAL   J Cell Biol 129 (4), 925-937 (1995)
   PUBMED   7744965
REFERENCE   10 (residues 1 to 127)
  AUTHORS   Grundmann U, Nerlich C, Rein T, Lottspeich F and Kupper HA.
  TITLE     Isolation of cDNA coding for the placental protein 15 (PP15)
  JOURNAL   Nucleic Acids Res 16 (10), 4721 (1988)
   PUBMED   3380696
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY123109.1, X07315.1 and
            BX647782.1.
            On Apr 5, 2016 this sequence version replaced XP_005255828.1.
            
            Summary: This gene encodes a cytosolic factor that facilitates
            protein transport into the nucleus. The encoded protein is required
            for nuclear import of the small Ras-like GTPase, Ran which is
            involved in numerous cellular processes. This protein also
            interacts with the nuclear pore complex glycoprotein p62. [provided
            by RefSeq, Apr 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.98278.1,
                                           SRR1803611.10726.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..127
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     Protein         1..127
                     /product="nuclear transport factor 2"
                     /note="placental protein 15"
                     /calculated_mol_wt=14347
     Site            4
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P61970.1)"
     Region          7..122
                     /region_name="NTF2"
                     /note="Nuclear transport factor 2 (NTF2) domain plays an
                     important role in the trafficking of macromolecules, ions
                     and small molecules between the cytoplasm and nucleus.
                     This bi-directional transport of macromolecules across the
                     nuclear envelope requires many...; cd00780"
                     /db_xref="CDD:238403"
     Site            order(34,40,47,72,74..75,84,106,116..118,120,122)
                     /site_type="active"
                     /note="TAP/p15 interaction [active]"
                     /db_xref="CDD:238403"
     Site            order(38,40..41,69..70,72,74..75,82,86..88,92,94..97,100,
                     106,116..118,120..122)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:238403"
     Site            order(41..42,59,64,87,89,91..92,94,97,119,121)
                     /site_type="active"
                     /note="RanGDP-NTF2 interaction [active]"
                     /db_xref="CDD:238403"
     CDS             1..127
                     /gene="NUTF2"
                     /gene_synonym="NTF-2; NTF2; PP15"
                     /coded_by="NM_001322040.2:295..678"
                     /db_xref="CCDS:CCDS10848.1"
                     /db_xref="GeneID:10204"
                     /db_xref="HGNC:HGNC:13722"
                     /db_xref="MIM:605813"
ORIGIN      
        1 mgdkpiweqi gssfiqhyyq lfdndrtqlg aiyidasclt wegqqfqgka aiveklsslp
       61 fqkiqhsita qdhqptpdsc iismvvgqlk adedpimgfh qmfllknind awvctndmfr
      121 lalhnfg
//
LOCUS       NP_001181930            1433 aa            linear   PRI 26-DEC-2022
DEFINITION  receptor-type tyrosine-protein phosphatase U isoform 4 precursor
            [Homo sapiens].
ACCESSION   NP_001181930
VERSION     NP_001181930.1
DBSOURCE    REFSEQ: accession NM_001195001.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1433)
  AUTHORS   Rumman M and Dhawan J.
  TITLE     PTPRU, a quiescence-induced receptor tyrosine phosphatase
            negatively regulates osteogenic differentiation of human
            mesenchymal stem cells
  JOURNAL   Biochem Biophys Res Commun 636 (Pt 1), 41-49 (2022)
   PUBMED   36332481
  REMARK    GeneRIF: PTPRU, a quiescence-induced receptor tyrosine phosphatase
            negatively regulates osteogenic differentiation of human
            mesenchymal stem cells.
REFERENCE   2  (residues 1 to 1433)
  AUTHORS   Hay IM, Fearnley GW, Rios P, Kohn M, Sharpe HJ and Deane JE.
  TITLE     The receptor PTPRU is a redox sensitive pseudophosphatase
  JOURNAL   Nat Commun 11 (1), 3219 (2020)
   PUBMED   32591542
  REMARK    GeneRIF: The receptor PTPRU is a redox sensitive pseudophosphatase.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1433)
  AUTHORS   Zhou R, Zhou X, Yin Z, Guo J, Hu T, Jiang S, Liu L, Dong X, Zhang S
            and Wu G.
  TITLE     MicroRNA-574-5p promotes metastasis of non-small cell lung cancer
            by targeting PTPRU
  JOURNAL   Sci Rep 6, 35714 (2016)
   PUBMED   27761023
  REMARK    GeneRIF: Transwell and wound-healing assays showed that miR-574-5p
            promotes the migration and invasion of NSCLC cells. Furthermore,
            miR-574-5p enhanced the tyrosine phosphorylation of beta-catenin by
            repressing PTPRU expression in vitro.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1433)
  AUTHORS   Liu Y, Zhu Z, Xiong Z, Zheng J, Hu Z and Qiu J.
  TITLE     Knockdown of protein tyrosine phosphatase receptor U inhibits
            growth and motility of gastric cancer cells
  JOURNAL   Int J Clin Exp Pathol 7 (9), 5750-5761 (2014)
   PUBMED   25337216
  REMARK    GeneRIF: PTPRU is required for gastric cancer cell proliferation
            and migration.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1433)
  AUTHORS   Zhu Z, Liu Y, Li K, Liu J, Wang H, Sun B, Xiong Z, Jiang H, Zheng J
            and Hu Z.
  TITLE     Protein tyrosine phosphatase receptor U (PTPRU) is required for
            glioma growth and motility
  JOURNAL   Carcinogenesis 35 (8), 1901-1910 (2014)
   PUBMED   24876153
  REMARK    GeneRIF: High PTPRU expression is associated with glioma growth and
            motility.
REFERENCE   6  (residues 1 to 1433)
  AUTHORS   Avraham S, London R, Tulloch GA, Ellis M, Fu Y, Jiang S, White RA,
            Painter C, Steinberger AA and Avraham H.
  TITLE     Characterization and chromosomal localization of PTPRO, a novel
            receptor protein tyrosine phosphatase, expressed in hematopoietic
            stem cells
  JOURNAL   Gene 204 (1-2), 5-16 (1997)
   PUBMED   9434160
REFERENCE   7  (residues 1 to 1433)
  AUTHORS   Lin BZ, Pilch PF and Kandror KV.
  TITLE     Sortilin is a major protein component of Glut4-containing vesicles
  JOURNAL   J Biol Chem 272 (39), 24145-24147 (1997)
   PUBMED   9305862
REFERENCE   8  (residues 1 to 1433)
  AUTHORS   Wang B, Kishihara K, Zhang D, Hara H and Nomoto K.
  TITLE     Molecular cloning and characterization of a novel human receptor
            protein tyrosine phosphatase gene, hPTP-J: down-regulation of gene
            expression by PMA and calcium ionophore in Jurkat T lymphoma cells
  JOURNAL   Biochem Biophys Res Commun 231 (1), 77-81 (1997)
   PUBMED   9070223
REFERENCE   9  (residues 1 to 1433)
  AUTHORS   Crossland S, Smith PD and Crompton MR.
  TITLE     Molecular cloning and characterization of PTP pi, a novel
            receptor-like protein-tyrosine phosphatase
  JOURNAL   Biochem J 319 (Pt 1) (Pt 1), 249-254 (1996)
   PUBMED   8870675
REFERENCE   10 (residues 1 to 1433)
  AUTHORS   Wang H, Lian Z, Lerch MM, Chen Z, Xie W and Ullrich A.
  TITLE     Characterization of PCP-2, a novel receptor protein tyrosine
            phosphatase of the MAM domain family
  JOURNAL   Oncogene 12 (12), 2555-2562 (1996)
   PUBMED   8700514
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X97198.1, BC146655.1, U73727.1
            and BC033131.1.
            
            Summary: The protein encoded by this gene is a member of the
            protein tyrosine phosphatase (PTP) family. PTPs are known to be
            signaling molecules that regulate a variety of cellular processes
            including cell growth, differentiation, mitotic cycle, and
            oncogenic transformation. This PTP possesses an extracellular
            region, a single transmembrane region, and two tandem intracellular
            catalytic domains, and thus represents a receptor-type PTP. The
            extracellular region contains a meprin-A5 antigen-PTP (MAM) domain,
            Ig-like and fibronectin type III-like repeats. This PTP was thought
            to play roles in cell-cell recognition and adhesion. Studies of the
            similar gene in mice suggested the role of this PTP in early neural
            development. The expression of this gene was reported to be
            regulated by phorbol myristate acetate (PMA) or calcium ionophore
            in Jurkat T lymphoma cells. Alternatively spliced transcript
            variants have been reported. [provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (4) lacks two alternate in-frame
            exons compared to variant 3. The resulting isoform (1) has the same
            N- and C-termini but is shorter than isoform 3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.2312295.1, BC146655.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1433
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.3"
     Protein         1..1433
                     /product="receptor-type tyrosine-protein phosphatase U
                     isoform 4 precursor"
                     /EC_number="3.1.3.48"
                     /note="pi R-PTP-Psi; Receptor protein tyrosine phosphatase
                     hPTP-J; PTP pi; protein-tyrosine phosphatase J;
                     protein-tyrosine phosphatase pi; pancreatic carcinoma
                     phosphatase 2; protein-tyrosine phosphatase receptor
                     omicron; receptor-type protein-tyrosine phosphatase psi"
                     /calculated_mol_wt=158896
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1917
     mat_peptide     19..1433
                     /product="receptor-type tyrosine-protein phosphatase U
                     isoform 4"
                     /calculated_mol_wt=158896
     Region          22..186
                     /region_name="MAM"
                     /note="Domain in meprin, A5, receptor protein tyrosine
                     phosphatase mu (and others); smart00137"
                     /db_xref="CDD:214533"
     Site            75
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92729.2)"
     Region          291..365
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          386..481
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            410
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92729.2)"
     Region          494..577
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(575..576,578..579)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            685
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92729.2)"
     Site            750..770
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92729.2)"
     Region          823..851
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92729.2)"
     Site            838
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q92729.2)"
     Site            843
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92729.2)"
     Site            853
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B1AUH1; propagated from
                     UniProtKB/Swiss-Prot (Q92729.2)"
     Site            855
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:B1AUH1; propagated from
                     UniProtKB/Swiss-Prot (Q92729.2)"
     Region          933..1134
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     Region          1219..1425
                     /region_name="R-PTPc-U-2"
                     /note="PTP domain of receptor-type tyrosine-protein
                     phosphatase U, repeat 2; cd14637"
                     /db_xref="CDD:350485"
     CDS             1..1433
                     /gene="PTPRU"
                     /gene_synonym="FMI; hPTP-J; PCP-2; PTP; PTP-J; PTP-PI;
                     PTP-RO; PTPPSI; PTPRO; PTPU2; R-PTP-PSI; R-PTP-U"
                     /coded_by="NM_001195001.2:124..4425"
                     /note="isoform 4 precursor is encoded by transcript
                     variant 4"
                     /db_xref="CCDS:CCDS53290.1"
                     /db_xref="GeneID:10076"
                     /db_xref="HGNC:HGNC:9683"
                     /db_xref="MIM:602454"
ORIGIN      
        1 maraqalvla ltfqlcapet etpaagctfe easdpavpce ysqaqyddfq weqvrihpgt
       61 rapadlphgs ylmvntsqha pgqrahvifq slsendthcv qfsyflysrd ghspgtlgvy
      121 vrvnggplgs avwnmtgshg rqwhqaelav stfwpneyqv lfealispdr rgymglddil
      181 llsypcakap hfsrlgdvev nagqnasfqc maagraaeae rfllqrqsga lvpaagvrhi
      241 shrrflatfp laavsraeqd lyrcvsqapr gagvsnfael ivkepptpia ppqllragpt
      301 yliiqlntns iigdgpivrk eieyrmargp waevhavslq tyklwhldpd teyeisvllt
      361 rpgdggtgrp gpplisrtkc aepmrapkgl afaeiqarql tlqweplgyn vtrchtytvs
      421 lcyhytlgss hnqtirecvk teqgvsryti knllpyrnvh vrlvltnpeg rkegkevtfq
      481 tdedvpsgia aesltftple dmiflkweep qepnglitqy eisyqsiess dpavnvpgpr
      541 rtisklrnet yhvfsnlhpg ttylfsvrar tgkgfgqaal teittnisap sfdyadmpsp
      601 lgesentitv llrpaqgrga pisvyqvive eerarrlrre pggqdcfpvp ltfeaalarg
      661 lvhyfgaela asslpeampf tvgdnqtyrg fwnppleprk ayliyfqaas hlkgetrlnc
      721 iriarkaack eskrplevsq rseemglilg icagglavli lllgaiivii rkgkpvnmtk
      781 atvnyrqekt hmmsavdrsf tdqstlqede rlglsfmdth gystrgdqrs ggvteassll
      841 ggsprrpcgr kgspyhtgql hpavrvadll qhinqmktae gygfkqeyes ffegwdatkk
      901 kdkvkgsrqe pmpaydrhrv klhpmlgdpn adyinanyid gyhrsnhfia tqgpkpemvy
      961 dfwrmvwqeh cssivmitkl vevkcsrywp edsdtygdik imlvktetla eyvvrtfale
     1021 rrgysarhev rqfhftawpe hgvpyhatgl lafirrvkas tppdagpivi hcsagtgrtg
     1081 cyivldvmld maecegvvdi yncvktlcsr rvnmiqteeq yifihdaile aclcgettip
     1141 vsefkatyke miridpqsns sqlreefqtl nsvtppldve ecsiallprn rdknrsmdvl
     1201 ppdrclpfli stdgdsnnyi naaltdsytr saafivtlhp lqsttpdfwr lvydygctsi
     1261 vmlnqlnqsn sawpclqywp epgrqqyglm evefmsgtad edlvarvfrv qnisrlqegh
     1321 llvrhfqflr wsayrdtpds kkaflhllae vdkwqaesgd grtivhclng ggrsgtfcac
     1381 atvlemirch nlvdvffaak tlrnykpnmv etmdqyhfcy dvaleylegl esr
//
LOCUS       NP_001273061             340 aa            linear   PRI 27-DEC-2022
DEFINITION  ribonuclease P protein subunit p40 isoform b [Homo sapiens].
ACCESSION   NP_001273061 XP_005248877
VERSION     NP_001273061.1
DBSOURCE    REFSEQ: accession NM_001286132.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 340)
  AUTHORS   Wu J, Niu S, Tan M, Huang C, Li M, Song Y, Wang Q, Chen J, Shi S,
            Lan P and Lei M.
  TITLE     Cryo-EM Structure of the Human Ribonuclease P Holoenzyme
  JOURNAL   Cell 175 (5), 1393-1404 (2018)
   PUBMED   30454648
REFERENCE   2  (residues 1 to 340)
  AUTHORS   Mattijssen S, Hinson ER, Onnekink C, Hermanns P, Zabel B, Cresswell
            P and Pruijn GJ.
  TITLE     Viperin mRNA is a novel target for the human RNase MRP/RNase P
            endoribonuclease
  JOURNAL   Cell Mol Life Sci 68 (14), 2469-2480 (2011)
   PUBMED   21053045
  REMARK    GeneRIF: Data idenified two cleavage sites for RNase MRP/RNase P in
            the coding sequence of viperin mRNA.
REFERENCE   3  (residues 1 to 340)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   4  (residues 1 to 340)
  AUTHORS   Welting TJ, van Venrooij WJ and Pruijn GJ.
  TITLE     Mutual interactions between subunits of the human RNase MRP
            ribonucleoprotein complex
  JOURNAL   Nucleic Acids Res 32 (7), 2138-2146 (2004)
   PUBMED   15096576
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 340)
  AUTHORS   Jarrous N, Eder PS, Guerrier-Takada C, Hoog C and Altman S.
  TITLE     Autoantigenic properties of some protein subunits of catalytically
            active complexes of human ribonuclease P
  JOURNAL   RNA 4 (4), 407-417 (1998)
   PUBMED   9630247
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX951376.1, BC017871.1, BM015573.1, BU607286.1 and AL359643.27.
            On Oct 30, 2013 this sequence version replaced XP_005248877.1.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1, resulting in
            an isoform (b) that is shorter than isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC017871.1, ERR279837.1801.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..340
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.1"
     Protein         1..340
                     /product="ribonuclease P protein subunit p40 isoform b"
                     /EC_number="3.1.26.5"
                     /note="ribonuclease P (40 kD); ribonuclease P, 40kD
                     subunit; ribonuclease P1; ribonuclease P protein subunit
                     p40; RNase P subunit 1; RNaseP protein p40; ribonuclease
                     P/MRP 40kDa subunit"
                     /calculated_mol_wt=39196
     Region          75..320
                     /region_name="Ribonuc_P_40"
                     /note="Ribonuclease P 40kDa (Rpp40) subunit; pfam08584"
                     /db_xref="CDD:430089"
     CDS             1..340
                     /gene="RPP40"
                     /gene_synonym="bA428J1.3; RNASEP1"
                     /coded_by="NM_001286132.2:36..1058"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS69040.1"
                     /db_xref="GeneID:10799"
                     /db_xref="HGNC:HGNC:20992"
                     /db_xref="MIM:606117"
ORIGIN      
        1 matlrrlrea prhllvceks nfgnhksrhr hlvqthyyny rvsflipecg ilseelknlv
       61 mntgpyyfvk nlplhelitp efistfikkg klilsldkdt yeetglqghp sqfsgrkimk
      121 fivsidlmel slnldskkye riswsfkekk plkfdfllaw hktgseestm msyfskyqiq
      181 ehqpkvalst lrdlqcpvlq sselegtpev scralelfdw lgavfsnvdl nnepnnfist
      241 yccpepstvv akaylctitg filpekicll lehlchyfde pklapwvtls vqgfadspvs
      301 weknehgfrk ggehlynfvi fnnqdywlqm avgandhcpp
//
LOCUS       NP_006469                681 aa            linear   PRI 27-DEC-2022
DEFINITION  GAS2-like protein 1 isoform a [Homo sapiens].
ACCESSION   NP_006469
VERSION     NP_006469.2
DBSOURCE    REFSEQ: accession NM_006478.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 681)
  AUTHORS   Au FKC, Hau BKT and Qi RZ.
  TITLE     Nek2-mediated GAS2L1 phosphorylation and centrosome-linker
            disassembly induce centrosome disjunction
  JOURNAL   J Cell Biol 219 (5) (2020)
   PUBMED   32289147
  REMARK    GeneRIF: Nek2-mediated GAS2L1 phosphorylation and centrosome-linker
            disassembly induce centrosome disjunction.
REFERENCE   2  (residues 1 to 681)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 681)
  AUTHORS   Au FK, Jia Y, Jiang K, Grigoriev I, Hau BK, Shen Y, Du S, Akhmanova
            A and Qi RZ.
  TITLE     GAS2L1 Is a Centriole-Associated Protein Required for Centrosome
            Dynamics and Disjunction
  JOURNAL   Dev Cell 40 (1), 81-94 (2017)
   PUBMED   28017616
  REMARK    GeneRIF: This work reveals a GAS2L1-mediated centriole-tethering
            mechanism of microtubules and actin, which provide the forces
            required for centrosome dynamics and separation.
REFERENCE   4  (residues 1 to 681)
  AUTHORS   Wolpin BM, Rizzato C, Kraft P, Kooperberg C, Petersen GM, Wang Z,
            Arslan AA, Beane-Freeman L, Bracci PM, Buring J, Canzian F, Duell
            EJ, Gallinger S, Giles GG, Goodman GE, Goodman PJ, Jacobs EJ,
            Kamineni A, Klein AP, Kolonel LN, Kulke MH, Li D, Malats N, Olson
            SH, Risch HA, Sesso HD, Visvanathan K, White E, Zheng W, Abnet CC,
            Albanes D, Andreotti G, Austin MA, Barfield R, Basso D, Berndt SI,
            Boutron-Ruault MC, Brotzman M, Buchler MW, Bueno-de-Mesquita HB,
            Bugert P, Burdette L, Campa D, Caporaso NE, Capurso G, Chung C,
            Cotterchio M, Costello E, Elena J, Funel N, Gaziano JM, Giese NA,
            Giovannucci EL, Goggins M, Gorman MJ, Gross M, Haiman CA, Hassan M,
            Helzlsouer KJ, Henderson BE, Holly EA, Hu N, Hunter DJ, Innocenti
            F, Jenab M, Kaaks R, Key TJ, Khaw KT, Klein EA, Kogevinas M, Krogh
            V, Kupcinskas J, Kurtz RC, LaCroix A, Landi MT, Landi S, Le
            Marchand L, Mambrini A, Mannisto S, Milne RL, Nakamura Y, Oberg AL,
            Owzar K, Patel AV, Peeters PH, Peters U, Pezzilli R, Piepoli A,
            Porta M, Real FX, Riboli E, Rothman N, Scarpa A, Shu XO, Silverman
            DT, Soucek P, Sund M, Talar-Wojnarowska R, Taylor PR,
            Theodoropoulos GE, Thornquist M, Tjonneland A, Tobias GS,
            Trichopoulos D, Vodicka P, Wactawski-Wende J, Wentzensen N, Wu C,
            Yu H, Yu K, Zeleniuch-Jacquotte A, Hoover R, Hartge P, Fuchs C,
            Chanock SJ, Stolzenberg-Solomon RS and Amundadottir LT.
  TITLE     Genome-wide association study identifies multiple susceptibility
            loci for pancreatic cancer
  JOURNAL   Nat Genet 46 (9), 994-1000 (2014)
   PUBMED   25086665
REFERENCE   5  (residues 1 to 681)
  AUTHORS   Stroud MJ, Nazgiewicz A, McKenzie EA, Wang Y, Kammerer RA and
            Ballestrem C.
  TITLE     GAS2-like proteins mediate communication between microtubules and
            actin through interactions with end-binding proteins
  JOURNAL   J Cell Sci 127 (Pt 12), 2672-2682 (2014)
   PUBMED   24706950
  REMARK    GeneRIF: GAS2L1 and GAS2L2 are differentially involved in mediating
            the crosstalk between F-actin and microtubules.
REFERENCE   6  (residues 1 to 681)
  AUTHORS   Saito A, Fujikura-Ouchi Y, Ito C, Matsuoka H, Shimoda K and Akiyama
            K.
  TITLE     An association study on polymorphisms in the PEA15, ENTPD4, and
            GAS2L1 genes and schizophrenia
  JOURNAL   Psychiatry Res 185 (1-2), 9-15 (2011)
   PUBMED   20537721
  REMARK    GeneRIF: There was no significant difference in the frequency six
            marker haplotype in the GAS2L1 gene between the cases of
            schizophreina and controls.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 681)
  AUTHORS   Gamper I, Koh KR, Ruau D, Ullrich K, Bartunkova J, Piroth D, Hacker
            C, Bartunek P and Zenke M.
  TITLE     GAR22: a novel target gene of thyroid hormone receptor causes
            growth inhibition in human erythroid cells
  JOURNAL   Exp Hematol 37 (5), 539-548 (2009)
   PUBMED   19375645
  REMARK    GeneRIF: T3-induced genes identified basic transcription element
            binding protein 1/Kruppel-like factor 9 (BTEB1/KLF9) and GAR22 as
            TR target genes
REFERENCE   8  (residues 1 to 681)
  AUTHORS   Goriounov D, Leung CL and Liem RK.
  TITLE     Protein products of human Gas2-related genes on chromosomes 17 and
            22 (hGAR17 and hGAR22) associate with both microfilaments and
            microtubules
  JOURNAL   J Cell Sci 116 (Pt 6), 1045-1058 (2003)
   PUBMED   12584248
  REMARK    GeneRIF: The beta isoforms of hGAR17 and hGAR22 appear to be able
            to crosslink microtubules and microfilaments
REFERENCE   9  (residues 1 to 681)
  AUTHORS   Zucman-Rossi J, Legoix P and Thomas G.
  TITLE     Identification of new members of the Gas2 and Ras families in the
            22q12 chromosome region
  JOURNAL   Genomics 38 (3), 247-254 (1996)
   PUBMED   8975699
REFERENCE   10 (residues 1 to 681)
  AUTHORS   Brancolini C, Bottega S and Schneider C.
  TITLE     Gas2, a growth arrest-specific protein, is a component of the
            microfilament network system
  JOURNAL   J Cell Biol 117 (6), 1251-1261 (1992)
   PUBMED   1607387
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC002059.3 and BC011047.1.
            On Apr 4, 2002 this sequence version replaced NP_006469.1.
            
            Summary: This gene encodes a member of the growth arrest-specific 2
            protein family. This protein binds components of the cytoskeleton
            and may be involved in mediating interactions between microtubules
            and microfilaments. This protein localizes to the proximal end of
            mature centrioles and links centrosomes to both microtubules and
            actin. Alternate splicing results in multiple transcript variants.
            A pseudogene of this gene is found on chromosome 9. [provided by
            RefSeq, May 2018].
            
            Transcript Variant: This variant (1) encodes isoform (a). Variants
            1, 2 and 5 encode isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC011047.1, SRR7346977.1050066.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..681
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..681
                     /product="GAS2-like protein 1 isoform a"
                     /note="GAS2-related protein on chromosome 22; GAS2-like
                     protein 1; growth arrest-specific protein 2-like 1;
                     epididymis secretory sperm binding protein"
                     /calculated_mol_wt=72558
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Region          18..152
                     /region_name="CH_GAS2L1_2"
                     /note="calponin homology (CH) domain found in GAS2-like
                     protein 1 (GAS2L1), GAS2L2, and similar proteins; cd21268"
                     /db_xref="CDD:409117"
     Site            order(29,33,98,100..101,104..105,107,118..126,132,
                     134..135,137..138,141..142,145)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409117"
     Region          168..204
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99501.2)"
     Site            193
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Region          208..276
                     /region_name="GAS2"
                     /note="Growth-Arrest-Specific Protein 2 Domain; pfam02187"
                     /db_xref="CDD:396660"
     Region          278..509
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99501.2)"
     Region          <283..662
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            306
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q99501.2)"
     Site            316
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Site            334
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Site            352
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Site            355
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Site            391
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Site            394
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Site            436
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Site            438
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Site            479
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Site            486
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Site            487
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8JZP9; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Site            490
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8JZP9; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Site            492
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q99501.2)"
     Site            498
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Site            504
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8JZP9; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Region          536..681
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99501.2)"
     Site            633
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8JZP9; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     Site            657
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8JZP9; propagated from
                     UniProtKB/Swiss-Prot (Q99501.2)"
     CDS             1..681
                     /gene="GAS2L1"
                     /gene_synonym="GAR22"
                     /coded_by="NM_006478.5:179..2224"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS74840.1"
                     /db_xref="GeneID:10634"
                     /db_xref="HGNC:HGNC:16955"
                     /db_xref="MIM:602128"
ORIGIN      
        1 madpvagiag saaksvrpfr sseayveamk edlaewlnal yglglpgggd gfltglatgt
       61 tlcqhanavt eaaralaaar pargvafqah svvpgsfmar dnvatfigwc rvelgvpevl
      121 mfetedlvlr kneksvvlcl levarrgarl gllaprlvqf eqeierelra appapnapaa
      181 gedttetapa pgtpargprm tpsdlrnlde lvreilgrct cpdqfpmikv segkyrvgds
      241 sllifvrvlr shvmvrvggg wdtlehyldk hdpcrcssta hrppqprvct fspqrvsptt
      301 sprpaspvpg serrgsrpem tpvslrstke gpetpprprd qlpphprsrr ysgdsdssas
      361 saqsgplgtr sddtgtgprr erpsrrlttg tpasprrppa lrsqsrdrld rgrprgapgg
      421 rgaqlsvpsp arrarsqsre eqavllvrrd rdgqhswvpr grgsggsgrs tpqtprarsp
      481 aaprlsrvss pspelgttpa sifrtplqld pqqeqqlfrr leeeflanar aleavasvtp
      541 tgpapdpara pdppapdsay cssssssssl svlggkcgqp gdsgrtangl pgprsqalss
      601 ssdegspcpg mggpldapgs plactepsrt wargrmdtqp drkpsriptp rgprrpsgpa
      661 elgtwhalhs vtpraepdsw m
//
LOCUS       NP_001363687             568 aa            linear   PRI 27-DEC-2022
DEFINITION  pre-mRNA 3'-end-processing factor FIP1 isoform 18 [Homo sapiens].
ACCESSION   NP_001363687
VERSION     NP_001363687.1
DBSOURCE    REFSEQ: accession NM_001376758.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 568)
  AUTHORS   Muckenfuss LM, Migenda Herranz AC, Boneberg FM, Clerici M and Jinek
            M.
  TITLE     Fip1 is a multivalent interaction scaffold for processing factors
            in human mRNA 3' end biogenesis
  JOURNAL   Elife 11, e80332 (2022)
   PUBMED   36073787
  REMARK    GeneRIF: Fip1 is a multivalent interaction scaffold for processing
            factors in human mRNA 3' end biogenesis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 568)
  AUTHORS   Tennenbaum J, Groh M, Venditti L, Campos-Gazeau F, Chalayer E, De
            Broucker T, Hamidou M, Hunault M, Lyoubi A, Meunier R, Muron T,
            Sene D, Slama B, Guidoux C, Lefevre G, Kahn JE, Denier C and Rohmer
            J.
  TITLE     FIP1L1-PDGFRA-Associated Hypereosinophilic Syndrome as a Treatable
            Cause of Watershed Infarction
  JOURNAL   Stroke 52 (10), e605-e609 (2021)
   PUBMED   34304603
  REMARK    GeneRIF: FIP1L1-PDGFRA-Associated Hypereosinophilic Syndrome as a
            Treatable Cause of Watershed Infarction.
REFERENCE   3  (residues 1 to 568)
  AUTHORS   Helbig G, Lewandowski K, Swiderska A, Rodzaj M, Seferynska I and
            Gajkowska-Kulik J.
  TITLE     Exquisite response to imatinib mesylate in FIP1L1-PDGFRA-mutated
            hypereosinophilic syndrome: a 12-year experience of the Polish
            Hypereosinophilic Syndrome Study Group
  JOURNAL   Pol Arch Intern Med 130 (3), 255-257 (2020)
   PUBMED   32125294
  REMARK    GeneRIF: Exquisite response to imatinib mesylate in
            FIP1L1-PDGFRA-mutated hypereosinophilic syndrome: a 12-year
            experience of the Polish Hypereosinophilic Syndrome Study Group.
REFERENCE   4  (residues 1 to 568)
  AUTHORS   Skarp S, Kamarainen OP, Wei GH, Jakkula E, Kiviranta I, Kroger H,
            Auvinen J, Lehenkari P, Ala-Kokko L and Mannikko M.
  TITLE     Whole exome sequencing in Finnish families identifies new candidate
            genes for osteoarthritis
  JOURNAL   PLoS One 13 (8), e0203313 (2018)
   PUBMED   30157244
  REMARK    GeneRIF: Two identified variants revealed novel candidate genes for
            hip and knee osteoarthritis. OLIG3 and FIP1L1 have specific roles
            in transcription and may effect expression of other genes.
            Identified variants in these genes may thus have a role in the
            regulatory events leading to osteoarthritis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 568)
  AUTHORS   Hilal T, Fauble V, Ketterling RP and Kelemen K.
  TITLE     Myeloid neoplasm with eosinophilia associated with isolated
            extramedullary FIP1L1/PDGFRA rearrangement
  JOURNAL   Cancer Genet 220, 13-18 (2018)
   PUBMED   29310833
  REMARK    GeneRIF: Herein, we report a case of a 53-year-old man with
            eosinophilia and a well-differentiated extramedullary myeloid tumor
            with evidence of FIP1L1/PDGFRA rearrangement by fluorescent in situ
            hybridization in the extramedullary tissue.
REFERENCE   6  (residues 1 to 568)
  AUTHORS   Cools J, Quentmeier H, Huntly BJ, Marynen P, Griffin JD, Drexler HG
            and Gilliland DG.
  TITLE     The EOL-1 cell line as an in vitro model for the study of
            FIP1L1-PDGFRA-positive chronic eosinophilic leukemia
  JOURNAL   Blood 103 (7), 2802-2805 (2004)
   PUBMED   14630792
  REMARK    GeneRIF: results indicate that the fusion of FIP1L1 to PDGFRA
            occurs rarely in leukemia cell lines
REFERENCE   7  (residues 1 to 568)
  AUTHORS   Kaufmann I, Martin G, Friedlein A, Langen H and Keller W.
  TITLE     Human Fip1 is a subunit of CPSF that binds to U-rich RNA elements
            and stimulates poly(A) polymerase
  JOURNAL   EMBO J 23 (3), 616-626 (2004)
   PUBMED   14749727
REFERENCE   8  (residues 1 to 568)
  AUTHORS   Pardanani A, Ketterling RP, Brockman SR, Flynn HC, Paternoster SF,
            Shearer BM, Reeder TL, Li CY, Cross NC, Cools J, Gilliland DG,
            Dewald GW and Tefferi A.
  TITLE     CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in
            systemic mastocytosis associated with eosinophilia and predicts
            response to imatinib mesylate therapy
  JOURNAL   Blood 102 (9), 3093-3096 (2003)
   PUBMED   12842979
  REMARK    GeneRIF: observations suggest that the FIP1L1-PDGFRA rearrangement
            occurs in an early hematopoietic progenitor and suggests that the
            molecular pathogenesis for a subset of SMCD patients is similar to
            that of HES
REFERENCE   9  (residues 1 to 568)
  AUTHORS   Griffin JH, Leung J, Bruner RJ, Caligiuri MA and Briesewitz R.
  TITLE     Discovery of a fusion kinase in EOL-1 cells and idiopathic
            hypereosinophilic syndrome
  JOURNAL   Proc Natl Acad Sci U S A 100 (13), 7830-7835 (2003)
   PUBMED   12808148
REFERENCE   10 (residues 1 to 568)
  AUTHORS   Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, Cortes J,
            Kutok J, Clark J, Galinsky I, Griffin JD, Cross NC, Tefferi A,
            Malone J, Alam R, Schrier SL, Schmid J, Rose M, Vandenberghe P,
            Verhoef G, Boogaerts M, Wlodarska I, Kantarjian H, Marynen P,
            Coutre SE, Stone R and Gilliland DG.
  TITLE     A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes
            as a therapeutic target of imatinib in idiopathic hypereosinophilic
            syndrome
  JOURNAL   N Engl J Med 348 (13), 1201-1214 (2003)
   PUBMED   12660384
  REMARK    GeneRIF: The hypereosinophilic syndrome may result from a novel
            fusion tyrosine kinase - FIP1L1-PDGFRalpha - that is a consequence
            of an interstitial chromosomal deletion.
            GeneRIF: Describes the fusion gene Fip1-like-1-PDGFRalpha in
            patients with idiopathic hypereosinophilic syndrome, mostly
            responsive to imatinib therapy.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC098821.3 and AC058822.6.
            
            Summary: This gene encodes a subunit of the CPSF (cleavage and
            polyadenylation specificity factor) complex that polyadenylates the
            3' end of mRNA precursors. This gene, the homolog of yeast Fip1
            (factor interacting with PAP), binds to U-rich sequences of
            pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus
            contains a PAP-binding site and its C-terminus an RNA-binding
            domain. An interstitial chromosomal deletion on 4q12 creates an
            in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived
            growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene
            encodes a constitutively activated tyrosine kinase that joins the
            first 233 amino acids of FIP1L1 to the last 523 amino acids of
            PDGFRA. This gene fusion and chromosomal deletion is the cause of
            some forms of idiopathic hypereosinophilic syndrome (HES). This
            syndrome, recently reclassified as chronic eosinophilic leukemia
            (CEL), is responsive to treatment with tyrosine kinase inhibitors.
            Alternative splicing results in multiple transcript variants
            encoding distinct isoforms. [provided by RefSeq, Oct 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372080.4458983.1,
                                           SRR1660803.213996.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..568
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     Protein         1..568
                     /product="pre-mRNA 3'-end-processing factor FIP1 isoform
                     18"
                     /note="rearranged in hypereosinophilia; pre-mRNA
                     3'-end-processing factor FIP1; FIP1-like 1 protein; factor
                     interacting with PAP; FIP1 like 1; FIP1L1 cleavage and
                     polyadenylation specific factor subunit"
                     /calculated_mol_wt=63415
     Region          139..181
                     /region_name="Fip1"
                     /note="Fip1 motif; pfam05182"
                     /db_xref="CDD:398722"
     CDS             1..568
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /coded_by="NM_001376758.1:199..1905"
                     /note="isoform 18 is encoded by transcript variant 18"
                     /db_xref="CCDS:CCDS93519.1"
                     /db_xref="GeneID:81608"
                     /db_xref="HGNC:HGNC:19124"
                     /db_xref="MIM:607686"
ORIGIN      
        1 msageverlv selsggtggd eeeewlygde neverpeeen asanppsgie detaengvpk
       61 pkvtetedds dsdsdddedd vhvtigdikt gapqygsygt apvnlniktg grvygttgtk
      121 vkgvdldapg singvpllev dldsfedkpw rkpgadlsdy fnygfnedtw kaycekqkri
      181 rmglevipvt sttnkitvqq grtgnseket alpstkaeft sppslfktgl ppsrnstssq
      241 sqtstasrka nssvgkwqdr ygraespdlr rlpgaidvig qtitisrveg rrranensni
      301 qvlsersate vdnnfskppp ffppgappth lppppflppp ptvstappli pppgipitvp
      361 ppgfppppga pppsliptie sghssgydsr sarafpygnv afphlpgsap swpslvdtsk
      421 qwdyyarrek drdrerdrdr erdrdrdrer ertrererer dhsptpsvfn rfvgdeeryr
      481 yreyaergye rhrasrekee rhrerrhrek eetrhkssrs nsrrrhesee gdshrrhkhk
      541 kskrskegke agsepapeqe steatpae
//
LOCUS       NP_001275661            1127 aa            linear   PRI 28-DEC-2022
DEFINITION  testis-expressed protein 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001275661 XP_005257562
VERSION     NP_001275661.1
DBSOURCE    REFSEQ: accession NM_001288732.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1127)
  AUTHORS   Kuhlwilm M and Boeckx C.
  TITLE     A catalog of single nucleotide changes distinguishing modern humans
            from archaic hominins
  JOURNAL   Sci Rep 9 (1), 8463 (2019)
   PUBMED   31186485
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1127)
  AUTHORS   Hariri H, Ugrankar R, Liu Y and Henne WM.
  TITLE     Inter-organelle ER-endolysosomal contact sites in metabolism and
            disease across evolution
  JOURNAL   Commun Integr Biol 9 (3), e1156278 (2016)
   PUBMED   27489577
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1127)
  AUTHORS   Lee I and Hong W.
  TITLE     Diverse membrane-associated proteins contain a novel SMP domain
  JOURNAL   FASEB J 20 (2), 202-206 (2006)
   PUBMED   16449791
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC036672.1, AL834251.2, BC040521.1, AA825291.1 and AC025362.12.
            On Jan 1, 2014 this sequence version replaced XP_005257562.1.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            acceptor splice site at an internal coding exon compared to variant
            1. The resulting shorter isoform (2) lacks a 7 aa protein segment
            compared to isoform 1. Variants 2 and 3 encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC040522.1, AL832371.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000584379.6/ ENSP00000463001.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1127
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     Protein         1..1127
                     /product="testis-expressed protein 2 isoform 2"
                     /note="testis expressed sequence 2; transmembrane protein
                     96; testis-expressed protein 2; testis-expressed sequence
                     2 protein"
                     /calculated_mol_wt=125172
     Region          1..27
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Region          133..279
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            196
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            262
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZPJ0; propagated from
                     UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            265
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZPJ0; propagated from
                     UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            266
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            270
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            295
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            330
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Region          348..386
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            475..495
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            497..517
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Region          648..685
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Region          715..764
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            732
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            738
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            744
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            748
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZPJ0; propagated from
                     UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            751
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZPJ0; propagated from
                     UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Region          786..816
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            798
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZPJ0; propagated from
                     UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Site            815
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZPJ0; propagated from
                     UniProtKB/Swiss-Prot (Q8IWB9.2)"
     Region          823..1100
                     /region_name="SMP_TEX2"
                     /note="synaptotagmin-like mitochondrial-lipid-binding
                     protein (SMP) domain found in testis-expressed protein 2
                     (TEX2) and similar proteins; cd21675"
                     /db_xref="CDD:439231"
     Site            order(841,844..845,849,853,872,877,898,904,906,908,1028,
                     1030,1034,1036,1046,1048,1050,1060,1082,1085..1086,1093,
                     1095..1098)
                     /site_type="other"
                     /note="putative lipid binding site [chemical binding]"
                     /db_xref="CDD:439231"
     Region          947..980
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWB9.2)"
     CDS             1..1127
                     /gene="TEX2"
                     /gene_synonym="HT008; TMEM96"
                     /coded_by="NM_001288732.2:119..3502"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS74131.1"
                     /db_xref="GeneID:55852"
                     /db_xref="HGNC:HGNC:30884"
                     /db_xref="MIM:619929"
ORIGIN      
        1 mtslygrhae kttdmpkpsa pkvhvqrsvs rdtiaihfsa sgeeeeeeee efreyfeegl
       61 ddqsivtgle akedlylepq vghdpagpaa spvladglsv sqapailpvs kntvkllesp
      121 vpaaqvlstv plavspgsss sgplasspsv sslseqktss ssplsspsks pilsssasts
      181 tlssakpfms lvkslsteve pkesphparh rhlmktlvks lstdtsrqes dtvsykppds
      241 klnlhlfkqf tqprntggds ktapssplts psdtrsffkv pemeakiedt krrlseviye
      301 pfqllskiig eesgshrpka lsssaselsn lsslnghles nnnysikeee cdsegdgygs
      361 dsniprsdhp kstgeptrei elkssqgssl kdlglktssl vlekcslsal vskedeefce
      421 lytedfdlet egeskvdkls diplkpevla edgvvldsed evdsavqhpe lpvktlgffi
      481 mcvyvylilp lphyvsglfl giglgfmtav cviwfftpps ahkyhklhkn lrhwntrsld
      541 ikepeilkgw mneiynydpe tyhatlthsv fvrleggtlr lskpnknisr rasynepkpe
      601 vtyisqkiyd lsdskiylvp ktlarkriwn kkypicielg qqddfmskaq tdketseekp
      661 paegsedpkk pprpqegtrs sqrdqilylf grtgrekeew frrfilaskl kseikkssgv
      721 sggkpgllpa hsrhnspsgh lthsrssskg sveeimsqpk qkelagsvrq kmlldysvym
      781 grcvpqesrs pqrsplqsae ssptagkklp evppseeeeq eawvnallgr ifwdflgeky
      841 wsdlvskkiq mklskiklpy fmneltltel dmgvavpkil qafkpyvdhq glwidlemsy
      901 ngsflmtlet kmnltklgke plvealkvge igkegcrpra fcladsdees ssagsseedd
      961 apepsggdkq llpgaegyvg ghrtskimrf vdkitkskyf qkatetefik kkieevsntp
     1021 llltvevqec rgtlavnipp pptdrvwygf rkpphvelka rpklgerevt lvhvtdwiek
     1081 kleqefqkvf vmpnmddvyi timhsamdpr stscllkdpp veaadqp
//
LOCUS       NP_001002251             229 aa            linear   PRI 28-DEC-2022
DEFINITION  ADP-ribosylation factor-like protein 6-interacting protein 4
            isoform 3 [Homo sapiens].
ACCESSION   NP_001002251
VERSION     NP_001002251.3
DBSOURCE    REFSEQ: accession NM_001002251.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 229)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   2  (residues 1 to 229)
  AUTHORS   Grossmann A, Benlasfer N, Birth P, Hegele A, Wachsmuth F, Apelt L
            and Stelzl U.
  TITLE     Phospho-tyrosine dependent protein-protein interaction network
  JOURNAL   Mol Syst Biol 11 (3), 794 (2015)
   PUBMED   25814554
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 229)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   4  (residues 1 to 229)
  AUTHORS   Ripke S, O'Dushlaine C, Chambert K, Moran JL, Kahler AK, Akterin S,
            Bergen SE, Collins AL, Crowley JJ, Fromer M, Kim Y, Lee SH,
            Magnusson PK, Sanchez N, Stahl EA, Williams S, Wray NR, Xia K,
            Bettella F, Borglum AD, Bulik-Sullivan BK, Cormican P, Craddock N,
            de Leeuw C, Durmishi N, Gill M, Golimbet V, Hamshere ML, Holmans P,
            Hougaard DM, Kendler KS, Lin K, Morris DW, Mors O, Mortensen PB,
            Neale BM, O'Neill FA, Owen MJ, Milovancevic MP, Posthuma D, Powell
            J, Richards AL, Riley BP, Ruderfer D, Rujescu D, Sigurdsson E,
            Silagadze T, Smit AB, Stefansson H, Steinberg S, Suvisaari J,
            Tosato S, Verhage M, Walters JT, Levinson DF, Gejman PV, Kendler
            KS, Laurent C, Mowry BJ, O'Donovan MC, Owen MJ, Pulver AE, Riley
            BP, Schwab SG, Wildenauer DB, Dudbridge F, Holmans P, Shi J, Albus
            M, Alexander M, Campion D, Cohen D, Dikeos D, Duan J, Eichhammer P,
            Godard S, Hansen M, Lerer FB, Liang KY, Maier W, Mallet J, Nertney
            DA, Nestadt G, Norton N, O'Neill FA, Papadimitriou GN, Ribble R,
            Sanders AR, Silverman JM, Walsh D, Williams NM, Wormley B, Arranz
            MJ, Bakker S, Bender S, Bramon E, Collier D, Crespo-Facorro B, Hall
            J, Iyegbe C, Jablensky A, Kahn RS, Kalaydjieva L, Lawrie S, Lewis
            CM, Lin K, Linszen DH, Mata I, McIntosh A, Murray RM, Ophoff RA,
            Powell J, Rujescu D, Van Os J, Walshe M, Weisbrod M, Wiersma D,
            Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP,
            Corvin AP, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew
            CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC,
            Viswanathan AC, Wood NW, Spencer CC, Band G, Bellenguez C, Freeman
            C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson RD, Strange A,
            Su Z, Vukcevic D, Donnelly P, Langford C, Hunt SE, Edkins S,
            Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E,
            Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC,
            Ravindrarajah R, Ricketts M, Tashakkori-Ghanbaria A, Waller MJ,
            Weston P, Widaa S, Whittaker P, Barroso I, Deloukas P, Mathew CG,
            Blackwell JM, Brown MA, Corvin AP, McCarthy MI, Spencer CC, Bramon
            E, Corvin AP, O'Donovan MC, Stefansson K, Scolnick E, Purcell S,
            McCarroll SA, Sklar P, Hultman CM and Sullivan PF.
  CONSRTM   Multicenter Genetic Studies of Schizophrenia Consortium; Psychosis
            Endophenotypes International Consortium; Wellcome Trust Case
            Control Consortium 2
  TITLE     Genome-wide association analysis identifies 13 new risk loci for
            schizophrenia
  JOURNAL   Nat Genet 45 (10), 1150-1159 (2013)
   PUBMED   23974872
REFERENCE   5  (residues 1 to 229)
  AUTHORS   Varjosalo M, Keskitalo S, Van Drogen A, Nurkkala H, Vichalkovski A,
            Aebersold R and Gstaiger M.
  TITLE     The protein interaction landscape of the human CMGC kinase group
  JOURNAL   Cell Rep 3 (4), 1306-1320 (2013)
   PUBMED   23602568
REFERENCE   6  (residues 1 to 229)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   7  (residues 1 to 229)
  AUTHORS   Fenner BJ, Scannell M and Prehn JH.
  TITLE     Expanding the substantial interactome of NEMO using protein
            microarrays
  JOURNAL   PLoS One 5 (1), e8799 (2010)
   PUBMED   20098747
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 229)
  AUTHORS   Wistow G, Bernstein SL, Ray S, Wyatt MK, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human iris for the NEIBank
            Project: steroid-response factors and similarities with retinal
            pigment epithelium
  JOURNAL   Mol Vis 8, 185-195 (2002)
   PUBMED   12107412
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 229)
  AUTHORS   Li Q, Zhao H, Jiang L, Che Y, Dong C, Wang L, Wang J and Liu L.
  TITLE     An SR-protein induced by HSVI binding to cells functioning as a
            splicing inhibitor of viral pre-mRNA
  JOURNAL   J Mol Biol 316 (4), 887-894 (2002)
   PUBMED   11884129
REFERENCE   10 (residues 1 to 229)
  AUTHORS   Sasahara K, Yamaoka T, Moritani M, Tanaka M, Iwahana H, Yoshimoto
            K, Miyagawa J, Kuroda Y and Itakura M.
  TITLE     Molecular cloning and expression analysis of a putative nuclear
            protein, SR-25
  JOURNAL   Biochem Biophys Res Commun 269 (2), 444-450 (2000)
   PUBMED   10708573
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC026362.38.
            On Aug 11, 2020 this sequence version replaced NP_001002251.2.
            
            Transcript Variant: This variant (3) has an alternate splice site
            in the coding region, but maintains the reading frame, compared to
            variant 1. The resulting isoform (3) lacks an internal segment,
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC094839.1, SRR7346977.743678.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..229
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     Protein         1..229
                     /product="ADP-ribosylation factor-like protein
                     6-interacting protein 4 isoform 3"
                     /note="SRp25 nuclear protein; splicing factor,
                     arginine/serine-rich 20; HSVI binding protein;
                     ADP-ribosylation factor-like protein 6-interacting protein
                     4; splicing regulator SRrp38; SR-15; aip-4; HSP-975;
                     ARL-6-interacting protein 4; ADP-ribosylation-like factor
                     6 interacting protein 4; splicing factor SRrp37;
                     ADP-ribosylation factor-like 6 interacting protein 4;
                     ADP-ribosylation factor GTPase 6 interacting protein 4"
                     /calculated_mol_wt=25487
     Region          31..227
                     /region_name="SR-25"
                     /note="Nuclear RNA-splicing-associated protein; pfam10500"
                     /db_xref="CDD:431320"
     CDS             1..229
                     /gene="ARL6IP4"
                     /gene_synonym="SFRS20; SR-25; SRp25; SRrp37"
                     /coded_by="NM_001002251.3:77..766"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS45004.3"
                     /db_xref="GeneID:51329"
                     /db_xref="HGNC:HGNC:18076"
                     /db_xref="MIM:607668"
ORIGIN      
        1 mahvgsrkrs rsrsrsrgrg sekrkkksrk dtsrncsast sqgrkastap gaeerskqka
       61 rrrtrsssss ssssssssss ssssssssss dgrkkrgkyk dkrrkkkkkr kklkkkgkek
      121 aeaqqvealp gpsldqwhrs ageeedgpvl tdeqksriqa mkpmtkeewd arqsiirkvv
      181 dpetgrtrli kgdgevleei vtkerhrein kqatrgdcla fqmragllp
//
LOCUS       NP_001005238             314 aa            linear   PRI 29-DEC-2022
DEFINITION  olfactory receptor 51G2 [Homo sapiens].
ACCESSION   NP_001005238
VERSION     NP_001005238.1
DBSOURCE    REFSEQ: accession NM_001005238.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 314)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (residues 1 to 314)
  AUTHORS   Gilad Y, Bustamante CD, Lancet D and Paabo S.
  TITLE     Natural selection on the olfactory receptor gene family in humans
            and chimpanzees
  JOURNAL   Am J Hum Genet 73 (3), 489-501 (2003)
   PUBMED   12908129
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018375.8.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641926.1/ ENSP00000493323.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..314
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..314
                     /product="olfactory receptor 51G2"
                     /note="olfactory receptor OR11-28"
                     /calculated_mol_wt=34881
     Site            8
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NGK0.1)"
     Region          30..304
                     /region_name="7tmA_OR51-like"
                     /note="olfactory receptor family 51 and related proteins,
                     member of the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15222"
                     /db_xref="CDD:320350"
     Region          31..57
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320350"
     Site            31..51
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK0.1)"
     Site            60..80
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK0.1)"
     Region          64..90
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320350"
     Site            order(86,89..90,102..107,109..110,113,158,160..164,200,
                     203..205,207..209,211..212,257,260..261,263..264,267,
                     275..276,278..280,283,286..287)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320350"
     Region          102..132
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320350"
     Site            105..125
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK0.1)"
     Region          145..166
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320350"
     Site            145..165
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK0.1)"
     Region          200..230
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320350"
     Site            202..222
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK0.1)"
     Region          237..267
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320350"
     Site            243..263
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK0.1)"
     Region          276..301
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320350"
     Site            279..299
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK0.1)"
     CDS             1..314
                     /gene="OR51G2"
                     /gene_synonym="OR11-28"
                     /coded_by="NM_001005238.2:251..1195"
                     /db_xref="CCDS:CCDS31365.1"
                     /db_xref="GeneID:81282"
                     /db_xref="HGNC:HGNC:15198"
ORIGIN      
        1 mtlgslgnss ssvsatflls gipglermhi wisiplcfmy lvsipgncti lfiiktersl
       61 hepmylflsm lalidlglsl ctlptvlgif wvgareishd acfaqlffih cfsflessvl
      121 lsmafdrfva ichplhyvsi ltntvigrig lvslgrsval ifplpfmlkr fpycgspvls
      181 hsyclhqevm klacadmkan siygmfvivs tvgidsllil fsyalilrtv lsiasraerf
      241 kalntcvshi cavllfytpm iglsvihrfg kqaphlvqvv mgfmyllfpp vmnpivysvk
      301 tkqirdrvth afcy
//
LOCUS       NP_001369618             330 aa            linear   PRI 29-DEC-2022
DEFINITION  muscleblind-like protein 2 isoform 16 [Homo sapiens].
ACCESSION   NP_001369618
VERSION     NP_001369618.1
DBSOURCE    REFSEQ: accession NM_001382689.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 330)
  AUTHORS   Cai J, Wang N, Lin G, Zhang H, Xie W, Zhang Y and Xu N.
  TITLE     MBNL2 Regulates DNA Damage Response via Stabilizing p21
  JOURNAL   Int J Mol Sci 22 (2), 783 (2021)
   PUBMED   33466733
  REMARK    GeneRIF: MBNL2 Regulates DNA Damage Response via Stabilizing p21.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 330)
  AUTHORS   Zhao A, Li Y, Niu M, Li G, Luo N, Zhou L, Kang W and Liu J.
  TITLE     SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with
            Parkinson's disease in southern Chinese population
  JOURNAL   J Cell Mol Med 24 (15), 8744-8752 (2020)
   PUBMED   32652860
  REMARK    GeneRIF: SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated
            with Parkinson's disease in southern Chinese population.
REFERENCE   3  (residues 1 to 330)
  AUTHORS   Fischer S, Di Liddo A, Taylor K, Gerhardus JS, Sobczak K, Zarnack K
            and Weigand JE.
  TITLE     Muscleblind-like 2 controls the hypoxia response of cancer cells
  JOURNAL   RNA 26 (5), 648-663 (2020)
   PUBMED   32127384
  REMARK    GeneRIF: MBNL2 induction was critical for hypoxia adaptation by
            controlling the transcript abundance of hypoxia response genes,
            such as vascular endothelial growth factor A (VEGFA) MBNL2
            depletion reduced the proliferation and migration of cancer cells,
            demonstrating an important role of MBNL2 as cancer driver.
REFERENCE   4  (residues 1 to 330)
  AUTHORS   Cerro-Herreros E, Sabater-Arcis M, Fernandez-Costa JM, Moreno N,
            Perez-Alonso M, Llamusi B and Artero R.
  TITLE     miR-23b and miR-218 silencing increase Muscleblind-like expression
            and alleviate myotonic dystrophy phenotypes in mammalian models
  JOURNAL   Nat Commun 9 (1), 2482 (2018)
   PUBMED   29946070
  REMARK    GeneRIF: Functional depletion of the alternative splicing factors
            Muscleblind-like (MBNL 1 and 2) is at the basis of the
            neuromuscular disease myotonic dystrophy type 1 (DM1). Here, we
            screen for miRNAs that regulate MBNL1 and MBNL2 in HeLa cells. We
            thus identify miR-23b and miR-218, and confirm that they
            downregulate MBNL proteins in this cell line.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 330)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (residues 1 to 330)
  AUTHORS   Paul S, Dansithong W, Kim D, Rossi J, Webster NJ, Comai L and Reddy
            S.
  TITLE     Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in
            DM1-associated aberrant IR splicing
  JOURNAL   EMBO J 25 (18), 4271-4283 (2006)
   PUBMED   16946708
REFERENCE   7  (residues 1 to 330)
  AUTHORS   Adereth Y, Dammai V, Kose N, Li R and Hsu T.
  TITLE     RNA-dependent integrin alpha3 protein localization regulated by the
            Muscleblind-like protein MLP1
  JOURNAL   Nat Cell Biol 7 (12), 1240-1247 (2005)
   PUBMED   16273094
  REMARK    Erratum:[Nat Cell Biol. 2006 Jan;8(1):100]
REFERENCE   8  (residues 1 to 330)
  AUTHORS   Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS and Cooper TA.
  TITLE     Muscleblind proteins regulate alternative splicing
  JOURNAL   EMBO J 23 (15), 3103-3112 (2004)
   PUBMED   15257297
  REMARK    GeneRIF: MBNL proteins promote opposite splicing patterns for
            cardiac troponin T and insulin receptor alternative exons
REFERENCE   9  (residues 1 to 330)
  AUTHORS   Christian SL, McDonough J, Liu Cy CY, Shaikh S, Vlamakis V, Badner
            JA, Chakravarti A and Gershon ES.
  TITLE     An evaluation of the assembly of an approximately 15-Mb region on
            human chromosome 13q32-q33 linked to bipolar disorder and
            schizophrenia
  JOURNAL   Genomics 79 (5), 635-656 (2002)
   PUBMED   11991713
REFERENCE   10 (residues 1 to 330)
  AUTHORS   Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS
            and Brook JD.
  TITLE     Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with
            nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
  JOURNAL   Hum Mol Genet 11 (7), 805-814 (2002)
   PUBMED   11929853
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161430.19 and AL442067.16.
            
            Summary: This gene is a member of the muscleblind protein family
            which was initially described in Drosophila melanogaster. This gene
            encodes a C3H-type zinc finger protein that modulates alternative
            splicing of pre-mRNAs. Muscleblind proteins bind specifically to
            expanded dsCUG RNA but not to normal size CUG repeats and may
            thereby play a role in the pathophysiology of myotonic dystrophy.
            Several alternatively spliced transcript variants have been
            described but the full-length natures of only some have been
            determined. [provided by RefSeq, Mar 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968540,
                              SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..330
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.1"
     Protein         1..330
                     /product="muscleblind-like protein 2 isoform 16"
                     /note="muscleblind-like protein 2; muscleblind-like
                     protein 1; muscleblind-like protein-like 39;
                     muscleblind-like 2"
                     /calculated_mol_wt=35474
     Region          135..159
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     CDS             1..330
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /coded_by="NM_001382689.1:991..1983"
                     /note="isoform 16 is encoded by transcript variant 38"
                     /db_xref="GeneID:10150"
                     /db_xref="HGNC:HGNC:16746"
                     /db_xref="MIM:607327"
ORIGIN      
        1 mlfaaelsvd hrgnqgrcsr enckylhppt hlktqleing rnnliqqkta aamlaqqmqf
       61 mfpgtplhpv ptfpvgpaig tntaisfapy lapvtpgvgl vpteilpttp vivpgsppvt
      121 vpgstatqkl lrtdklevcr efqrgncarg etdcrfahpa dstmidtsdn tvtvcmdyik
      181 grcmrekcky fhppahlqak ikaaqhqanq aavaaqaaaa aatvmafppg alhplpkrqa
      241 leksngtsav fnpsvlhyqq altsaqlqqh aafiptgsvl cmtpatsidn seiisrngme
      301 cqesalritk hcyctyypvs ssielpqtac
//
LOCUS       NP_775289                184 aa            linear   PRI 29-DEC-2022
DEFINITION  Kv channel-interacting protein 2 isoform 7 [Homo sapiens].
ACCESSION   NP_775289
VERSION     NP_775289.1
DBSOURCE    REFSEQ: accession NM_173197.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 184)
  AUTHORS   Murthy A, Workman SW, Jiang M, Hu J, Sifa I, Bernas T, Tang W,
            Deschenes I and Tseng GN.
  TITLE     Dynamic palmitoylation regulates trafficking of K channel
            interacting protein 2 (KChIP2) across multiple subcellular
            compartments in cardiac myocytes
  JOURNAL   J Mol Cell Cardiol 135, 1-9 (2019)
   PUBMED   31362018
  REMARK    GeneRIF: The palmitoylation status of KChIP2 determines its
            subcellular distribution in cardiac myocytes. Stress promotes
            nuclear entry of KChIP2, diverting it from ion channel modulation
            at the plasma membrane to other functions in the nuclear
            compartment.
REFERENCE   2  (residues 1 to 184)
  AUTHORS   Murphy JG and Hoffman DA.
  TITLE     A polybasic motif in alternatively spliced KChIP2 isoforms prevents
            Ca2+ regulation of Kv4 channels
  JOURNAL   J Biol Chem 294 (10), 3683-3695 (2019)
   PUBMED   30622142
  REMARK    GeneRIF: polybasic motif in alternatively spliced KChIP2 isoforms
            prevents Ca(2+) regulation of Kv4 channels
REFERENCE   3  (residues 1 to 184)
  AUTHORS   Prechtel H, Hartmann S, Minge D and Bahring R.
  TITLE     Somatodendritic surface expression of epitope-tagged and KChIP
            binding-deficient Kv4.2 channels in hippocampal neurons
  JOURNAL   PLoS One 13 (1), e0191911 (2018)
   PUBMED   29385176
  REMARK    GeneRIF: Our results do not support the notion that accessory
            KChIP2 binding is a prerequisite for dendritic trafficking and
            functional surface expression of Kv4.2 channels, however, accessory
            KChIP2 binding may play a potential role in Kv4.2 modulation during
            intrinsic plasticity processes.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 184)
  AUTHORS   Groen C and Bahring R.
  TITLE     Modulation of human Kv4.3/KChIP2 channel inactivation kinetics by
            cytoplasmic Ca2
  JOURNAL   Pflugers Arch 469 (11), 1457-1470 (2017)
   PUBMED   28735419
  REMARK    GeneRIF: Binding of Ca(2+) to KChIP2 EF-hands can acutely modulate
            Kv4.3/KChIP2 channel inactivation gating.
REFERENCE   5  (residues 1 to 184)
  AUTHORS   Nassal DM, Wan X, Liu H, Maleski D, Ramirez-Navarro A, Moravec CS,
            Ficker E, Laurita KR and Deschenes I.
  TITLE     KChIP2 is a core transcriptional regulator of cardiac excitability
  JOURNAL   Elife 6, e17304 (2017)
   PUBMED   28263709
  REMARK    GeneRIF: Results identify the KChIP2/miR-34 axis as a central
            regulator in developing cardiac electrical dysfunction.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 184)
  AUTHORS   Decher N, Uyguner O, Scherer CR, Karaman B, Yuksel-Apak M, Busch
            AE, Steinmeyer K and Wollnik B.
  TITLE     hKChIP2 is a functional modifier of hKv4.3 potassium channels:
            cloning and expression of a short hKChIP2 splice variant
  JOURNAL   Cardiovasc Res 52 (2), 255-264 (2001)
   PUBMED   11684073
REFERENCE   7  (residues 1 to 184)
  AUTHORS   Bahring R, Dannenberg J, Peters HC, Leicher T, Pongs O and Isbrandt
            D.
  TITLE     Conserved Kv4 N-terminal domain critical for effects of Kv
            channel-interacting protein 2.2 on channel expression and gating
  JOURNAL   J Biol Chem 276 (26), 23888-23894 (2001)
   PUBMED   11287421
REFERENCE   8  (residues 1 to 184)
  AUTHORS   Rosati B, Pan Z, Lypen S, Wang HS, Cohen I, Dixon JE and McKinnon
            D.
  TITLE     Regulation of KChIP2 potassium channel beta subunit gene expression
            underlies the gradient of transient outward current in canine and
            human ventricle
  JOURNAL   J Physiol 533 (Pt 1), 119-125 (2001)
   PUBMED   11351020
REFERENCE   9  (residues 1 to 184)
  AUTHORS   Ohya S, Morohashi Y, Muraki K, Tomita T, Watanabe M, Iwatsubo T and
            Imaizumi Y.
  TITLE     Molecular cloning and expression of the novel splice variants of
            K(+) channel-interacting protein 2
  JOURNAL   Biochem Biophys Res Commun 282 (1), 96-102 (2001)
   PUBMED   11263977
REFERENCE   10 (residues 1 to 184)
  AUTHORS   An WF, Bowlby MR, Betty M, Cao J, Ling HP, Mendoza G, Hinson JW,
            Mattsson KI, Strassle BW, Trimmer JS and Rhodes KJ.
  TITLE     Modulation of A-type potassium channels by a family of calcium
            sensors
  JOURNAL   Nature 403 (6769), 553-556 (2000)
   PUBMED   10676964
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK094668.1, BC034685.1 and
            AF367019.1.
            
            Summary: This gene encodes a member of the family of voltage-gated
            potassium (Kv) channel-interacting proteins (KCNIPs), which belongs
            to the recoverin branch of the EF-hand superfamily. Members of the
            KCNIP family are small calcium binding proteins. They all have
            EF-hand-like domains, and differ from each other in the N-terminus.
            They are integral subunit components of native Kv4 channel
            complexes. They may regulate A-type currents, and hence neuronal
            excitability, in response to changes in intracellular calcium.
            Multiple alternatively spliced transcript variants encoding
            distinct isoforms have been identified from this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (7), also known as KChIP2.5, lacks
            four coding segments: two consecutive in the 5' region, one in the
            middle, and one at the 3' end, but has an alternate segment at the
            3' end, as compared to variant 1. The alternate segment contains
            the stop codon. Therefore, isoform 7 has a distinct C-terminus and
            is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF367019.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2159607
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..184
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.32"
     Protein         1..184
                     /product="Kv channel-interacting protein 2 isoform 7"
                     /note="A-type potassium channel modulatory protein 2;
                     potassium channel-interacting protein 2; cardiac
                     voltage-gated potassium channel modulatory subunit; Kv
                     channel interacting protein 2"
                     /calculated_mol_wt=21270
     Region          94..165
                     /region_name="EFh"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     cd00051"
                     /db_xref="CDD:238008"
     Site            order(103,105,107,114,151,153,155,162)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238008"
     CDS             1..184
                     /gene="KCNIP2"
                     /gene_synonym="KCHIP2"
                     /coded_by="NM_173197.3:233..787"
                     /note="isoform 7 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS7526.1"
                     /db_xref="GeneID:30819"
                     /db_xref="HGNC:HGNC:15522"
                     /db_xref="MIM:604661"
ORIGIN      
        1 mrgqgrkesl sdsrdldgsy dqltdsvdde felstvchrp egleqlqeqt kftrkelqvl
       61 yrgfknecps givneenfkq iysqffpqgd sstyatflfn afdtnhdgsv sfeemldimk
      121 siydmmgkyt ypalreeapr ehvesffqkm drnkdgvvti eefiescqkv qlpalyitlt
      181 wtqa
//
LOCUS       NP_001157863             491 aa            linear   PRI 29-DEC-2022
DEFINITION  metal-response element-binding transcription factor 2 isoform c
            [Homo sapiens].
ACCESSION   NP_001157863
VERSION     NP_001157863.1
DBSOURCE    REFSEQ: accession NM_001164391.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 491)
  AUTHORS   Jain P, Ballare C, Blanco E, Vizan P and Di Croce L.
  TITLE     PHF19 mediated regulation of proliferation and invasiveness in
            prostate cancer cells
  JOURNAL   Elife 9, e51373 (2020)
   PUBMED   32155117
  REMARK    GeneRIF: PHF19 mediated regulation of proliferation and
            invasiveness in prostate cancer cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 491)
  AUTHORS   Maganti HB, Jrade H, Cafariello C, Manias Rothberg JL, Porter CJ,
            Yockell-Lelievre J, Battaion HL, Khan ST, Howard JP, Li Y,
            Grzybowski AT, Sabri E, Ruthenburg AJ, Dilworth FJ, Perkins TJ,
            Sabloff M, Ito CY and Stanford WL.
  TITLE     Targeting the MTF2-MDM2 Axis Sensitizes Refractory Acute Myeloid
            Leukemia to Chemotherapy
  JOURNAL   Cancer Discov 8 (11), 1376-1389 (2018)
   PUBMED   30115703
  REMARK    GeneRIF: MTF2 Deficiency is associated with chemoresistance in
            Acute Myeloid Leukemia.
REFERENCE   3  (residues 1 to 491)
  AUTHORS   Conway E, Jerman E, Healy E, Ito S, Holoch D, Oliviero G, Deevy O,
            Glancy E, Fitzpatrick DJ, Mucha M, Watson A, Rice AM, Chammas P,
            Huang C, Pratt-Kelly I, Koseki Y, Nakayama M, Ishikura T, Streubel
            G, Wynne K, Hokamp K, McLysaght A, Ciferri C, Di Croce L, Cagney G,
            Margueron R, Koseki H and Bracken AP.
  TITLE     A Family of Vertebrate-Specific Polycombs Encoded by the LCOR/LCORL
            Genes Balance PRC2 Subtype Activities
  JOURNAL   Mol Cell 70 (3), 408-421 (2018)
   PUBMED   29628311
REFERENCE   4  (residues 1 to 491)
  AUTHORS   Gatchalian J, Kingsley MC, Moslet SD, Rosas Ospina RD and
            Kutateladze TG.
  TITLE     An aromatic cage is required but not sufficient for binding of
            Tudor domains of the Polycomblike protein family to H3K36me3
  JOURNAL   Epigenetics 10 (6), 467-473 (2015)
   PUBMED   25923537
  REMARK    GeneRIF: the F61L/S86F mutant of MTF2 Tudor-PHD1 was able to bind
            to H3K36me3 as strong as the PHF1 Tudor bound to this PTM . We
            concluded that the hydrophobic patch plays an essential role in
            binding of these Tudors to methylated chromatin
REFERENCE   5  (residues 1 to 491)
  AUTHORS   Musselman CA, Avvakumov N, Watanabe R, Abraham CG, Lalonde ME, Hong
            Z, Allen C, Roy S, Nunez JK, Nickoloff J, Kulesza CA, Yasui A, Cote
            J and Kutateladze TG.
  TITLE     Molecular basis for H3K36me3 recognition by the Tudor domain of
            PHF1
  JOURNAL   Nat Struct Mol Biol 19 (12), 1266-1272 (2012)
   PUBMED   23142980
REFERENCE   6  (residues 1 to 491)
  AUTHORS   Wang S, Robertson GP and Zhu J.
  TITLE     A novel human homologue of Drosophila polycomblike gene is
            up-regulated in multiple cancers
  JOURNAL   Gene 343 (1), 69-78 (2004)
   PUBMED   15563832
REFERENCE   7  (residues 1 to 491)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   8  (residues 1 to 491)
  AUTHORS   Mididoddi S, McGuirt JP, Sens MA, Todd JH and Sens DA.
  TITLE     Isoform-specific expression of metallothionein mRNA in the
            developing and adult human kidney
  JOURNAL   Toxicol Lett 85 (1), 17-27 (1996)
   PUBMED   8619255
REFERENCE   9  (residues 1 to 491)
  AUTHORS   Inouye C, Remondelli P, Karin M and Elledge S.
  TITLE     Isolation of a cDNA encoding a metal response element binding
            protein using a novel expression cloning procedure: the one hybrid
            system
  JOURNAL   DNA Cell Biol 13 (7), 731-742 (1994)
   PUBMED   7772254
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB173315.1, AK302776.1, AF072814.1, AL117354.12 and BQ025793.1.
            
            Transcript Variant: This variant (3) lacks an alternate portion of
            a coding exon compared to variant 1, that causes a frameshift. The
            resulting isoform (c) is shorter at the N-terminus compared to
            isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments. Variants 3
            and 4 both encode the same isoform (c).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302776.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..491
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.1"
     Protein         1..491
                     /product="metal-response element-binding transcription
                     factor 2 isoform c"
                     /note="putative DNA binding protein; polycomb-like 2;
                     hPCl2; polycomb-like protein 2; metal regulatory
                     transcription factor 2; metal-response element DNA-binding
                     protein M96; tudor domain containing 19A"
                     /calculated_mol_wt=55594
     Region          2..54
                     /region_name="PHD1_MTF2"
                     /note="PHD finger 1 found in metal-response
                     element-binding transcription factor 2 (MTF2); cd15578"
                     /db_xref="CDD:277053"
     Site            order(2,16..20,24,47)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277053"
     Region          101..152
                     /region_name="PHD2_MTF2"
                     /note="PHD finger 2 found in metal-response
                     element-binding transcription factor 2 (MTF2); cd15580"
                     /db_xref="CDD:277055"
     Site            order(101,113..117,121,145)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277055"
     Region          442..489
                     /region_name="Mtf2_C"
                     /note="Polycomb-like MTF2 factor 2; pfam14061"
                     /db_xref="CDD:433685"
     CDS             1..491
                     /gene="MTF2"
                     /gene_synonym="dJ976O13.2; M96; PCL2; TDRD19A"
                     /coded_by="NM_001164391.2:471..1946"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS53341.1"
                     /db_xref="GeneID:22823"
                     /db_xref="HGNC:HGNC:29535"
                     /db_xref="MIM:609882"
ORIGIN      
        1 mvcticqeey seapnemvic dkcgqgyhql chtphidssv idsdekwlcr qcvfatttkr
       61 ggalkkgpna kalqvmkqtl pysvadlewd aghktnvqqc ycycggpgdw ylkmlqcckc
      121 kqwfheacvq clqkpmlfgd rfytficsvc ssgpeylkrl plqwvdiahl clynlsvihk
      181 kkyfdselel mtyinenwdr lhpgeladtp kseryehvle alndyktmfm sgkeikkkkh
      241 lfglrirvpp vppnvafkae kepegtshef kikgrkaskp isdsrevsng iekkgkkksv
      301 grppgpytrk miqktaepll dkesisenpt ldlpcsigrt egtahssnts dvdftgassa
      361 kettsssisr hyglsdsrkr trtgrswpaa iphlrrrrgr lprralqtqn seivkddegk
      421 edyqfdelnt eilnnladqe lqlnhlknsi tsyfgaagri acgekyrvla rrvtldgkvq
      481 ylvewegata s
//
LOCUS       NP_001369436             200 aa            linear   PRI 30-DEC-2022
DEFINITION  ATP synthase subunit s, mitochondrial isoform a precursor [Homo
            sapiens].
ACCESSION   NP_001369436 XP_011534955
VERSION     NP_001369436.1
DBSOURCE    REFSEQ: accession NM_001382507.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 200)
  AUTHORS   Wen F, Li B, Huang C, Wei Z, Zhou Y, Liu J and Zhang H.
  TITLE     MiR-34a is Involved in the Decrease of ATP Contents Induced by
            Resistin Through Target on ATP5S in HepG2 Cells
  JOURNAL   Biochem Genet 53 (11-12), 301-309 (2015)
   PUBMED   26385595
  REMARK    GeneRIF: The study is the first to show that ATP5S is one of the
            target genes of miR-34a.
REFERENCE   2  (residues 1 to 200)
  AUTHORS   Shaffer JR, Polk DE, Wang X, Feingold E, Weeks DE, Lee MK, Cuenco
            KT, Weyant RJ, Crout RJ, McNeil DW and Marazita ML.
  TITLE     Genome-wide association study of periodontal health measured by
            probing depth in adults ages 18-49 years
  JOURNAL   G3 (Bethesda) 4 (2), 307-314 (2014)
   PUBMED   24347629
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 200)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 200)
  AUTHORS   Ma J, Dempsey AA, Stamatiou D, Marshall KW and Liew CC.
  TITLE     Identifying leukocyte gene expression patterns associated with
            plasma lipid levels in human subjects
  JOURNAL   Atherosclerosis 191 (1), 63-72 (2007)
   PUBMED   16806233
REFERENCE   5  (residues 1 to 200)
  AUTHORS   Cross,R.L.
  TITLE     Molecular motors: turning the ATP motor
  JOURNAL   Nature 427 (6973), 407-408 (2004)
   PUBMED   14749816
REFERENCE   6  (residues 1 to 200)
  AUTHORS   Belogrudov GI and Hatefi Y.
  TITLE     Factor B and the mitochondrial ATP synthase complex
  JOURNAL   J Biol Chem 277 (8), 6097-6103 (2002)
   PUBMED   11744738
REFERENCE   7  (residues 1 to 200)
  AUTHORS   Kinosita K Jr, Yasuda R and Noji H.
  TITLE     F1-ATPase: a highly efficient rotary ATP machine
  JOURNAL   Essays Biochem 35, 3-18 (2000)
   PUBMED   12471886
  REMARK    Review article
REFERENCE   8  (residues 1 to 200)
  AUTHORS   Wang H and Oster G.
  TITLE     Energy transduction in the F1 motor of ATP synthase
  JOURNAL   Nature 396 (6708), 279-282 (1998)
   PUBMED   9834036
REFERENCE   9  (residues 1 to 200)
  AUTHORS   Elston T, Wang H and Oster G.
  TITLE     Energy transduction in ATP synthase
  JOURNAL   Nature 391 (6666), 510-513 (1998)
   PUBMED   9461222
REFERENCE   10 (residues 1 to 200)
  AUTHORS   Sanadi,D.R., Pringle,M., Kantham,L., Hughes,J.B. and Srivastava,A.
  TITLE     Evidence for the involvement of coupling factor B in the H+ channel
            of the mitochondrial H+-ATPase
  JOURNAL   Proc Natl Acad Sci U S A 81 (5), 1371-1374 (1984)
   PUBMED   6143319
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359397.3.
            On May 13, 2020 this sequence version replaced XP_011534955.1.
            
            Summary: This gene encodes a subunit of mitochondrial ATP synthase.
            Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an
            electrochemical gradient of protons across the inner membrane
            during oxidative phosphorylation. ATP synthase is composed of two
            linked multi-subunit complexes: the soluble catalytic core, F1, and
            the membrane-spanning component, Fo, comprising the proton channel.
            This gene encodes the subunit s, also known as factor B, of the
            proton channel. This subunit is necessary for the energy
            transduction activity of the ATP synthase complexes. Alternatively
            spliced transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3183375.1,
                                           SRR14038195.1836573.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2162895
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000557421.7/
                                                  ENSP00000506374.1
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..200
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q21.3"
     Protein         1..200
                     /product="ATP synthase subunit s, mitochondrial isoform a
                     precursor"
                     /EC_number="3.6.1.14"
                     /note="ATP synthase, H+ transporting, mitochondrial F0
                     complex, subunit s (factor B); distal membrane arm
                     assembly complex 2-like protein; distal membrane arm
                     assembly complex 2 like; ATP synthase, H+ transporting,
                     mitochondrial Fo complex subunit s (factor B);
                     mitochondrial ATP synthase regulatory component factor B;
                     ATP synthase coupling factor B, mitochondrial; ATP
                     synthase coupling factor B-like 1; ATP synthase subunit s,
                     mitochondrial; ATP synthase-coupling factor B"
                     /calculated_mol_wt=23095
     Region          111..135
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          136..164
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     CDS             1..200
                     /gene="DMAC2L"
                     /gene_synonym="ATP5S; ATPW; FB; HSU79253"
                     /coded_by="NM_001382507.1:108..710"
                     /note="isoform a precursor is encoded by transcript
                     variant 5"
                     /db_xref="CCDS:CCDS32075.2"
                     /db_xref="GeneID:27109"
                     /db_xref="HGNC:HGNC:18799"
                     /db_xref="MIM:618579"
ORIGIN      
        1 mmpfgkisqq lcgvkklpws cdsryfwgwl navfnkvdyd rirdvgpdra asewllrcga
       61 mvryhgqerw qkdynhlptg pldkykiqai datdscimsi gfdhmegleh vekirlckch
      121 yieddcllrl sqlenlqkti lemeiiscgn itdkgiialr hlrnlkylll sdlpgvreke
      181 nlvqafktal pslelklqlk
//
LOCUS       NP_001305646             557 aa            linear   PRI 30-DEC-2022
DEFINITION  kelch repeat and BTB domain-containing protein 4 isoform f [Homo
            sapiens].
ACCESSION   NP_001305646
VERSION     NP_001305646.1
DBSOURCE    REFSEQ: accession NM_001318717.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 557)
  AUTHORS   Chen Z, Ioris RM, Richardson S, Van Ess AN, Vendrell I, Kessler BM,
            Buffa FM, Busino L, Clifford SC, Bullock AN and D'Angiolella V.
  TITLE     Disease-associated KBTBD4 mutations in medulloblastoma elicit
            neomorphic ubiquitylation activity to promote CoREST degradation
  JOURNAL   Cell Death Differ 29 (10), 1955-1969 (2022)
   PUBMED   35379950
  REMARK    GeneRIF: Disease-associated KBTBD4 mutations in medulloblastoma
            elicit neomorphic ubiquitylation activity to promote CoREST
            degradation.
REFERENCE   2  (residues 1 to 557)
  AUTHORS   Uchida E, Sasaki A, Shirahata M, Suzuki T, Adachi JI, Mishima K,
            Yasuda M, Fujimaki T, Ichimura K and Nishikawa R.
  TITLE     Role of proliferative marker index and KBTBD4 mutation in the
            pathological diagnosis of pineal parenchymal tumors
  JOURNAL   Brain Tumor Pathol 39 (3), 130-138 (2022)
   PUBMED   35000018
  REMARK    GeneRIF: Role of proliferative marker index and KBTBD4 mutation in
            the pathological diagnosis of pineal parenchymal tumors.
REFERENCE   3  (residues 1 to 557)
  AUTHORS   Leal LF, Cavagna RO, Campanella NC, Mancano B, Almeida GC,
            Matsushita M, Almeida Junior CR, Saggioro F, Stavale JN, Malheiros
            SMF, Lima M, Hajj GNM, Neder L and Reis RM.
  TITLE     Lack of KBTBD4 Mutations in Molecularly Classified Brazilian
            Medulloblastomas
  JOURNAL   J Neuropathol Exp Neurol 78 (9), 788-790 (2019)
   PUBMED   31403685
  REMARK    GeneRIF: Our findings suggest that KBTBD4 mutations are uncommon in
            Brazilian MBGRP3 and MBGRP4 medulloblastomas subgroups.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104942.5 and KF459542.1.
            
            Transcript Variant: This variant (13) differs in the 5' UTR and
            coding sequence compared to variant 4. The resulting isoform (f)
            has a shorter and distinct N-terminus compared to isoform c.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.3405247.1,
                                           SRR1660807.264023.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..557
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..557
                     /product="kelch repeat and BTB domain-containing protein 4
                     isoform f"
                     /note="BTB and kelch domain containing 4; kelch repeat and
                     BTB domain-containing protein 4; BTB and kelch
                     domain-containing protein 4; kelch repeat and BTB (POZ)
                     domain containing 4"
                     /calculated_mol_wt=62266
     Region          52..191
                     /region_name="BTB_POZ_KBTBD4"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in Kelch repeat
                     and BTB domain-containing protein 4 (KBTBD4); cd18272"
                     /db_xref="CDD:349581"
     Region          86..518
                     /region_name="PHA03098"
                     /note="kelch-like protein; Provisional"
                     /db_xref="CDD:222983"
     Region          181..268
                     /region_name="BACK_KBTBD4"
                     /note="BACK (BTB and C-terminal Kelch) domain found in
                     Kelch repeat and BTB domain-containing protein 4 (KBTBD4);
                     cd18481"
                     /db_xref="CDD:350556"
     Region          318..353
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          357..404
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          407..453
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          461..506
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     CDS             1..557
                     /gene="KBTBD4"
                     /gene_synonym="BKLHD4; HSPC252"
                     /coded_by="NM_001318717.2:20..1693"
                     /note="isoform f is encoded by transcript variant 13"
                     /db_xref="GeneID:55709"
                     /db_xref="HGNC:HGNC:23761"
                     /db_xref="MIM:617645"
ORIGIN      
        1 mkggnavgql dsqtmavnss gysrwccfad swqreklasm espeepgasm denyfvnytf
       61 kdrshsgrva qgimklclee elfadvtisv egrefqlhrl vlsaqscffr smftsnlkea
      121 hnrvivlqdv sesvfqllvd yiyhgtvklr aeelqeiyev sdmyqltslf eecsrflart
      181 vqvgnclqvm wladrhsdpe lytaakhcak thlaqlqnte eflhlphrll tdiisdgvpc
      241 sqnpteaiea winfnkeere afaeslrtsl keigenvhiy ligkessrth slavslhcae
      301 ddsisvsgqn slchqitaac khggdlyvvg gsiprrmwkc nnatvdwewc aplprdrlqh
      361 tlvsvpgkda iyslggktlq dtlsnaviyy rvgdnvwtet tqlevavsga aganlngiiy
      421 llggeendld fftkpsrliq cfdtetdkch vkpyvlpfag rmhaavhkdl vfivaegdsl
      481 vcynplldsf trlclpeaws sapslwkias cngsiyvfrd rykkgdanty kldpatsavt
      541 vtrgikvllt nlqfvla
//
LOCUS       NP_001375107             767 aa            linear   PRI 31-DEC-2022
DEFINITION  zinc finger protein 226 isoform c [Homo sapiens].
ACCESSION   NP_001375107
VERSION     NP_001375107.1
DBSOURCE    REFSEQ: accession NM_001388178.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 767)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A,
            Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel
            S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA,
            Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J,
            Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M,
            Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W,
            Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V,
            Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready
            P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S,
            Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer
            J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D,
            Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo
            N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS,
            DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA,
            Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM and Lucas
            SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
REFERENCE   2  (residues 1 to 767)
  AUTHORS   Shannon M, Hamilton AT, Gordon L, Branscomb E and Stubbs L.
  TITLE     Differential expansion of zinc-finger transcription factor loci in
            homologous human and mouse gene clusters
  JOURNAL   Genome Res 13 (6A), 1097-1110 (2003)
   PUBMED   12743021
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA614159.1, DB117314.1 and AC138470.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.1721320.1,
                                           SRR14038194.373222.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..767
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.31"
     Protein         1..767
                     /product="zinc finger protein 226 isoform c"
                     /note="Kruppel-associated box protein"
                     /calculated_mol_wt=87690
     Region          220..266
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Region          270..>321
                     /region_name="SUF4-like"
                     /note="N-terminal domain of Oryza sativa transcription
                     factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana
                     SUF4 (AtSUF4), and similar proteins; cd20908"
                     /db_xref="CDD:411020"
     Region          273..298
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          273..293
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(278,284,291,297,300,307)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411020"
     Region          301..321
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          301..321
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          323..738
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          329..349
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(334,336,338,340..341,344..345,348,362,364,368..369,
                     372..373,376,390,392,394,396..397,400..401,404)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          357..377
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          385..405
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          413..433
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          441..461
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(446,448,450,452..453,456..457,460,474,476,480..481,
                     484..485,488,502,504,506,508..509,512..513,516)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          469..489
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          497..517
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          525..545
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          553..573
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(558,560,562,564..565,568..569,572,586,588,592..593,
                     596..597,600,614,616,618,620..621,624..625,628)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          581..601
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          609..629
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          637..657
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          665..685
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(670,672,674,676..677,680..681,684,698,700,704..705,
                     708..709,712,726,728,730,732..733,736..737,740)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          693..713
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          721..741
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..767
                     /gene="ZNF226"
                     /coded_by="NM_001388178.1:245..2548"
                     /note="isoform c is encoded by transcript variant 21"
                     /db_xref="GeneID:7769"
                     /db_xref="HGNC:HGNC:13019"
ORIGIN      
        1 mvenfrnlls vghppfkqdv spierneqlw imttatrrqg nlgeknqskl itvqdresee
       61 elscwqiwqq iandltrcqd sminnsqchk qgdfpyqvgt elsiqisede nyivnkadgp
      121 nntgnpefpi lrtqdswrkt fltesqrlnr dqqisiknkl cqckkgvdpi gwishhdghr
      181 vhkseksyrp ndyekdnmki ltfdhnsmih tgqksyqcne ckkpfsdlss fdlhqqlqsg
      241 eksltcverg kgfcyspvlp vhqkvhvgek lkcdecgkef sqgahlqthq kvhviekpyk
      301 ckqcgkgfsr rsalnvhckv htaekpynce ecgrafsqas hlqdhqrlht gekpfkcdac
      361 gksfsrnshl qshqrvhtge kpykceecgk gficssnlyi hqrvhtgekp ykceecgkgf
      421 srpsslqahq gvhtgeksyi ctvcgkgftl ssnlqahqrv htgekpykcn ecgksfrrns
      481 hyqvhlvvht gekpykceic gkgfsqssyl qihqkahsie kpfkceecgq gfnqssrlqi
      541 hqlihtgekp ykceecgkgf srradlkihc rihtgekpyn ceecgkvfrq asnllahqrv
      601 hsgekpfkce ecgksfgrsa hlqahqkvht gdkpykcdec gkgfkwslnl dmhqrvhtge
      661 kpykcgecgk yfsqasslql hqsvhtgekp ykcdvcgkvf srssqlqshq rvhtgekpyk
      721 ceicgksfsw rsnltvhhri hvgdksyksn rggknirest qekksik
//
LOCUS       NP_001376494             737 aa            linear   PRI 31-DEC-2022
DEFINITION  UDP-glucuronosyltransferase 2A1 isoform 5 precursor [Homo sapiens].
ACCESSION   NP_001376494
VERSION     NP_001376494.1
DBSOURCE    REFSEQ: accession NM_001389565.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 737)
  AUTHORS   Shelton JF, Shastri AJ, Fletez-Brant K, Aslibekyan S and Auton A.
  CONSRTM   23andMe COVID-19 Team
  TITLE     The UGT2A1/UGT2A2 locus is associated with COVID-19-related loss of
            smell or taste
  JOURNAL   Nat Genet 54 (2), 121-124 (2022)
   PUBMED   35039640
  REMARK    GeneRIF: The UGT2A1/UGT2A2 locus is associated with
            COVID-19-related loss of smell or taste.
REFERENCE   2  (residues 1 to 737)
  AUTHORS   Sutliff AK, Watson CJW, Chen G and Lazarus P.
  TITLE     Regulation of UGT2A1 by miR-196a-5p and miR-196b-5p
  JOURNAL   J Pharmacol Exp Ther 369 (2), 234-243 (2019)
   PUBMED   30850392
  REMARK    GeneRIF: Regulation of UGT2A1 by miR-196a-5p and miR-196b-5p
REFERENCE   3  (residues 1 to 737)
  AUTHORS   Zhang S, Zhu J, Li H, Wang L, Niu J, Zhu B, He L, Shen L, Qin S and
            Fang S.
  TITLE     Study of the Association of PEAR1, P2Y12, and UGT2A1 Polymorphisms
            with Platelet Reactivity in Response to Dual Antiplatelet Therapy
            in Chinese Patients
  JOURNAL   Cardiology 140 (1), 21-29 (2018)
   PUBMED   29635252
  REMARK    GeneRIF: association of SNPs of PEAR1, P2Y12, and UGT2A1 with
            platelet reactivity in 290 Chinese patients with acute coronary
            syndrome treated with aspirin and clopidogrel
REFERENCE   4  (residues 1 to 737)
  AUTHORS   Perreault M, Gauthier-Landry L, Trottier J, Verreault M, Caron P,
            Finel M and Barbier O.
  TITLE     The Human UDP-glucuronosyltransferase UGT2A1 and UGT2A2 enzymes are
            highly active in bile acid glucuronidation
  JOURNAL   Drug Metab Dispos 41 (9), 1616-1620 (2013)
   PUBMED   23756265
  REMARK    GeneRIF: The Km values of UGT2A1 varied between 102.2 +/- 14.3
            microM and 2.4 +/- 1.2 mM.
REFERENCE   5  (residues 1 to 737)
  AUTHORS   Bushey RT and Lazarus P.
  TITLE     Identification and functional characterization of a novel
            UDP-glucuronosyltransferase 2A1 splice variant: potential
            importance in tobacco-related cancer susceptibility
  JOURNAL   J Pharmacol Exp Ther 343 (3), 712-724 (2012)
   PUBMED   22984225
  REMARK    GeneRIF: Expression of novel UDP-glucuronosyltransferase 2A1 splice
            variant could play an important role in the detoxification of
            carcinogens within target tissues for tobacco carcinogenesis.
REFERENCE   6  (residues 1 to 737)
  AUTHORS   Sneitz N, Court MH, Zhang X, Laajanen K, Yee KK, Dalton P, Ding X
            and Finel M.
  TITLE     Human UDP-glucuronosyltransferase UGT2A2: cDNA construction,
            expression, and functional characterization in comparison with
            UGT2A1 and UGT2A3
  JOURNAL   Pharmacogenet Genomics 19 (12), 923-934 (2009)
   PUBMED   19858781
  REMARK    GeneRIF: Results show that UGT2A2 not only shares exons 2-6 with
            UGT2A1, it also shares with it a similar tissue expression pattern;
            both UGTs are primarily expressed in nasal epithelium. The 3rd
            member of UGT2A subfamily, UGT2A3 exhibited a different tissue
            expression pattern, found mainly in liver and small intestine.
REFERENCE   7  (residues 1 to 737)
  AUTHORS   Heydel J, Leclerc S, Bernard P, Pelczar H, Gradinaru D, Magdalou J,
            Minn A, Artur Y and Goudonnet H.
  TITLE     Rat olfactory bulb and epithelium UDP-glucuronosyltransferase 2A1
            (UGT2A1) expression: in situ mRNA localization and quantitative
            analysis
  JOURNAL   Brain Res Mol Brain Res 90 (1), 83-92 (2001)
   PUBMED   11376859
REFERENCE   8  (residues 1 to 737)
  AUTHORS   Tukey RH and Strassburg CP.
  TITLE     Genetic multiplicity of the human UDP-glucuronosyltransferases and
            regulation in the gastrointestinal tract
  JOURNAL   Mol Pharmacol 59 (3), 405-414 (2001)
   PUBMED   11179432
  REMARK    Review article
REFERENCE   9  (residues 1 to 737)
  AUTHORS   Strassburg CP, Kneip S, Topp J, Obermayer-Straub P, Barut A, Tukey
            RH and Manns MP.
  TITLE     Polymorphic gene regulation and interindividual variation of
            UDP-glucuronosyltransferase activity in human small intestine
  JOURNAL   J Biol Chem 275 (46), 36164-36171 (2000)
   PUBMED   10748067
REFERENCE   10 (residues 1 to 737)
  AUTHORS   Jedlitschky G, Cassidy AJ, Sales M, Pratt N and Burchell B.
  TITLE     Cloning and characterization of a novel human olfactory
            UDP-glucuronosyltransferase
  JOURNAL   Biochem J 340 (Pt 3) (Pt 3), 837-843 (1999)
   PUBMED   10359671
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093829.2 and KF457774.1.
            
            Summary: The protein encoded by this gene belongs to the
            UDP-glycosyltransferase family. Members of this protein family play
            a role in the conjugation and subsequent elimination of potentially
            toxic xenobiotics and endogenous compounds. The encoded enzyme is
            expressed in the olfactory neuroepithelium, which lines the
            posterior nasal cavity and is exposed to a wide range of odorants
            and airborne toxic compounds. Hence, this protein has been
            suggested to be involved in clearing lipophilic odorant molecules
            from the sensory epithelium. This gene shares exon structure with
            the UDP glucuronosyltransferase 2A2 family member, which encodes
            N-terminally distinct isoforms. Polymorphisms in this gene may be
            associated with the loss of taste and smell that is reported by
            some individuals during SARS-CoV-2 infection. [provided by RefSeq,
            Jan 2022].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA2145774, SAMEA2155590
                              [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: relevant for disease process
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..737
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     Protein         1..737
                     /product="UDP-glucuronosyltransferase 2A1 isoform 5
                     precursor"
                     /EC_number="2.4.1.17"
                     /note="UDP glycosyltransferase 2 family, polypeptide A1;
                     UDP-glucuronosyltransferase 2A1; uridine diphosphate
                     glycosyltransferase 2 family, member A1; UDP
                     glucuronosyltransferase 2 family, polypeptide A1, complex
                     locus"
                     /calculated_mol_wt=81640
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2162
     Site            49
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P0DTE4.2)"
     Region          237..725
                     /region_name="UDPGT"
                     /note="UDP-glucoronosyl and UDP-glucosyl transferase;
                     pfam00201"
                     /db_xref="CDD:278624"
     Site            order(241..242,244,412,415..416,437,464,519,582,584,
                     586..587,590)
                     /site_type="active"
                     /db_xref="CDD:340817"
     Site            order(241,519,582,584,586..587)
                     /site_type="active"
                     /note="TDP-binding site [active]"
                     /db_xref="CDD:340817"
     Site            242
                     /site_type="active"
                     /note="acceptor substrate-binding pocket [active]"
                     /db_xref="CDD:340817"
     CDS             1..737
                     /gene="UGT2A1"
                     /gene_synonym="UDPGT2A1"
                     /coded_by="NM_001389565.1:115..2328"
                     /note="isoform 5 precursor is encoded by transcript
                     variant 5"
                     /db_xref="GeneID:10941"
                     /db_xref="HGNC:HGNC:12542"
                     /db_xref="MIM:604716"
ORIGIN      
        1 mlnnlllfsl qisligttlg gnvliwpmeg shwlnvkiii delikkehnv tvlvasgalf
       61 itptsnpslt feiykvpfgk eriegvikdf vltwlenrps pstiwrfyqe makvikdfhm
      121 vsqeicdgvl knqqlmaklk kskfevlvsd pvfpcgdiva lklgipfmys lrfspastve
      181 khcgkvpypp syvpavlsel tdqmsftdri rnfisyhlqd ymfetlwksw dsyyskaldg
      241 shwlnikiil eeliqrnhnv tvlassatlf insnpdspvn fevipvsykk snidsliehm
      301 imlwidhrpt pltiwafyke lgklldtffq iniqlcdgvl knpklmarlq kggfdvlvad
      361 pvticgdlva lklgipfmyt lrfspastve rhcgkipapv syvpaalsel tdqmtfgeri
      421 kntisyslqd yifqsywgew nsyyskilgr pttlcetmgk aeiwlirtyw dfefprpylp
      481 nfefvgglhc kpakplpkem eefiqssgkn gvvvfslgsm vknlteekan liasalaqip
      541 qkvlwrykgk kpatlgnntq lfdwipqndl lghpktkafi thggtngiye aiyhgvpmvg
      601 vpmfadqpdn iahmkakgaa vevnlntmts vdllsalrtv inepsykena mrlsrihhdq
      661 pvkpldravf wiefvmrhkg akhlrvaahd ltwfqyhsld vigfllvcvt taiflviqcc
      721 lfscqkfgki gkkkkre
//
LOCUS       NP_001359192             973 aa            linear   PRI 31-DEC-2022
DEFINITION  sodium/calcium exchanger 1 isoform A precursor [Homo sapiens].
ACCESSION   NP_001359192 XP_016860237
VERSION     NP_001359192.1
DBSOURCE    REFSEQ: accession NM_001372263.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 973)
  AUTHORS   Liu K, Fan XE, Zhang L, Yang Y and Zhou XL.
  TITLE     Circ-NCX1 inhibits LPS-induced chondrocyte apoptosis by regulating
            the miR-133a/SIRT1 axis
  JOURNAL   Kaohsiung J Med Sci 38 (10), 992-1000 (2022)
   PUBMED   35894157
  REMARK    GeneRIF: Circ-NCX1 inhibits LPS-induced chondrocyte apoptosis by
            regulating the miR-133a/SIRT1 axis.
REFERENCE   2  (residues 1 to 973)
  AUTHORS   Wan H, Gao N, Lu W, Lu C, Chen J, Wang Y and Dong H.
  TITLE     NCX1 coupled with TRPC1 to promote gastric cancer via
            Ca2+/AKT/beta-catenin pathway
  JOURNAL   Oncogene 41 (35), 4169-4182 (2022)
   PUBMED   35882979
  REMARK    GeneRIF: NCX1 coupled with TRPC1 to promote gastric cancer via
            Ca(2+)/AKT/beta-catenin pathway.
REFERENCE   3  (residues 1 to 973)
  AUTHORS   Yong W, Deng S, Tan Y and Li S.
  TITLE     Circular RNA circSLC8A1 inhibits the proliferation and invasion of
            non-small cell lung cancer cells through targeting the miR-106b-5p
            /FOXJ3 axis
  JOURNAL   Cell Cycle 20 (24), 2597-2606 (2021)
   PUBMED   34724864
  REMARK    GeneRIF: Circular RNA circSLC8A1 inhibits the proliferation and
            invasion of non-small cell lung cancer cells through targeting the
            miR-106b-5p /FOXJ3 axis.
REFERENCE   4  (residues 1 to 973)
  AUTHORS   Xia Z, Wang C and Zhang H.
  TITLE     The downregulation of NCXs is positively correlated with the
            prognosis of stage II-IV colon cancer
  JOURNAL   World J Surg Oncol 19 (1), 177 (2021)
   PUBMED   34127021
  REMARK    GeneRIF: The downregulation of NCXs is positively correlated with
            the prognosis of stage II-IV colon cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 973)
  AUTHORS   Valsecchi V, Laudati G, Cuomo O, Sirabella R, Annunziato L and
            Pignataro G.
  TITLE     The hypoxia sensitive metal transcription factor MTF-1 activates
            NCX1 brain promoter and participates in remote postconditioning
            neuroprotection in stroke
  JOURNAL   Cell Death Dis 12 (5), 423 (2021)
   PUBMED   33931586
  REMARK    GeneRIF: The hypoxia sensitive metal transcription factor MTF-1
            activates NCX1 brain promoter and participates in remote
            postconditioning neuroprotection in stroke.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 973)
  AUTHORS   McDaniel LD, Lederer WJ, Kofuji P, Schulze DH, Kieval R and Schultz
            RA.
  TITLE     Mapping of the human cardiac Na+/Ca2+ exchanger gene (NCX1) by
            fluorescent in situ hybridization to chromosome region 2p22-->p23
  JOURNAL   Cytogenet Cell Genet 63 (3), 192-193 (1993)
   PUBMED   8485996
REFERENCE   7  (residues 1 to 973)
  AUTHORS   Kofuji P, Hadley RW, Kieval RS, Lederer WJ and Schulze DH.
  TITLE     Expression of the Na-Ca exchanger in diverse tissues: a study using
            the cloned human cardiac Na-Ca exchanger
  JOURNAL   Am J Physiol 263 (6 Pt 1), C1241-C1249 (1992)
   PUBMED   1476165
REFERENCE   8  (residues 1 to 973)
  AUTHORS   Komuro I, Wenninger KE, Philipson KD and Izumo S.
  TITLE     Molecular cloning and characterization of the human cardiac
            Na+/Ca2+ exchanger cDNA
  JOURNAL   Proc Natl Acad Sci U S A 89 (10), 4769-4773 (1992)
   PUBMED   1374913
REFERENCE   9  (residues 1 to 973)
  AUTHORS   Shieh BH, Xia Y, Sparkes RS, Klisak I, Lusis AJ, Nicoll DA and
            Philipson KD.
  TITLE     Mapping of the gene for the cardiac sarcolemmal Na(+)-Ca2+
            exchanger to human chromosome 2p21-p23
  JOURNAL   Genomics 12 (3), 616-617 (1992)
   PUBMED   1559714
REFERENCE   10 (residues 1 to 973)
  AUTHORS   Colvin RA, Bennett JW, Colvin SL, Allen RA, Martinez J and Miner
            GD.
  TITLE     Na+/Ca2+ exchange activity is increased in Alzheimer's disease
            brain tissues
  JOURNAL   Brain Res 543 (1), 139-147 (1991)
   PUBMED   1647256
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007877.3, AC007281.3, AC007377.3 and AC007254.3.
            On Aug 28, 2019 this sequence version replaced XP_016860237.1.
            
            Summary: In cardiac myocytes, Ca(2+) concentrations alternate
            between high levels during contraction and low levels during
            relaxation. The increase in Ca(2+) concentration during contraction
            is primarily due to release of Ca(2+) from intracellular stores.
            However, some Ca(2+) also enters the cell through the sarcolemma
            (plasma membrane). During relaxation, Ca(2+) is sequestered within
            the intracellular stores. To prevent overloading of intracellular
            stores, the Ca(2+) that entered across the sarcolemma must be
            extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary
            mechanism by which the Ca(2+) is extruded from the cell during
            relaxation. In the heart, the exchanger may play a key role in
            digitalis action. The exchanger is the dominant mechanism in
            returning the cardiac myocyte to its resting state following
            excitation.[supplied by OMIM, Apr 2004].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: M96368.1, BC098285.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..973
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.1"
     Protein         1..973
                     /product="sodium/calcium exchanger 1 isoform A precursor"
                     /note="Na+/Ca++ exchanger; sodium/calcium exchanger 1;
                     Na+/Ca2+ exchanger; Na(+)/Ca(2+)-exchange protein 1;
                     solute carrier family 8 (sodium/calcium exchanger), member
                     1; solute carrier family 8 member 1"
                     /calculated_mol_wt=104545
     sig_peptide     1..35
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=4021
     Region          4..973
                     /region_name="caca"
                     /note="sodium/calcium exchanger 1; TIGR00845"
                     /db_xref="CDD:273296"
     mat_peptide     36..973
                     /product="Sodium/calcium exchanger 1. /id=PRO_0000019379"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
                     /calculated_mol_wt=104545
     Site            44
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P32418.3)"
     Site            75..95
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            137..157
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Region          141..181
                     /region_name="Alpha-1"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            160
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P32418.3)"
     Site            171..191
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            205..225
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            232..252
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Region          254..273
                     /region_name="Putative calmodulin-binding region.
                     /evidence=ECO:0000250|UniProtKB:P23685"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            285
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70414; propagated from
                     UniProtKB/Swiss-Prot (P32418.3)"
     Site            392
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70414, ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            801..821
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            825..845
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Region          842..878
                     /region_name="Alpha-2"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            875..895
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            907..927
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            945..965
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     CDS             1..973
                     /gene="SLC8A1"
                     /gene_synonym="NCX1"
                     /coded_by="NM_001372263.2:112..3033"
                     /note="isoform A precursor is encoded by transcript
                     variant R"
                     /db_xref="CCDS:CCDS1806.1"
                     /db_xref="GeneID:6546"
                     /db_xref="HGNC:HGNC:11068"
                     /db_xref="MIM:182305"
ORIGIN      
        1 mynmrrlsls ptfsmgfhll vtvsllfshv dhviaeteme gegnetgect gsyyckkgvi
       61 lpiwepqdps fgdkiaratv yfvamvymfl gvsiiadrfm ssievitsqe keitikkpng
      121 ettkttvriw netvsnltlm algssapeil lsvievcghn ftagdlgpst ivgsaafnmf
      181 iiialcvyvv pdgetrkikh lrvffvtaaw sifaytwlyi ilsvispgvv evweglltff
      241 ffpicvvfaw vadrrllfyk yvykryragk qrgmiieheg drpsskteie mdgkvvnshv
      301 enfldgalvl evderdqdde earremaril kelkqkhpdk eieqlielan yqvlsqqqks
      361 rafyriqatr lmtgagnilk rhaadqarka vsmhevntev tendpvskif feqgtyqcle
      421 ncgtvaltii rrggdltntv fvdfrtedgt anagsdyeft egtvvfkpgd tqkeirvgii
      481 dddifeeden flvhlsnvkv sseasedgil eanhvstlac lgspstatvt ifdddhagif
      541 tfeepvthvs esigimevkv lrtsgargnv ivpyktiegt argggedfed tcgelefqnd
      601 eivktisvkv iddeeyeknk tffleigepr lvemsekkal llnelggfti tgkylfgqpv
      661 frkvharehp ilstvitiad eyddkqplts keeeerriae mgrpilgeht kleviieesy
      721 efkstvdkli kktnlalvvg tnswreqfie aitvsagedd dddecgeekl pscfdyvmhf
      781 ltvfwkvlfa fvppteywng wacfivsilm iglltafigd lashfgctig lkdsvtavvf
      841 valgtsvpdt faskvaatqd qyadasignv tgsnavnvfl gigvawsiaa iyhaangeqf
      901 kvspgtlafs vtlftifafi nvgvllyrrr peiggelggp rtaklltscl fvllwllyif
      961 fssleaychi kgf
//
LOCUS       NP_001400113            1849 aa            linear   PRI 01-JAN-2023
DEFINITION  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform
            1 [Homo sapiens].
ACCESSION   NP_001400113 XP_005251191
VERSION     NP_001400113.1
DBSOURCE    REFSEQ: accession NM_001413184.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1849)
  AUTHORS   Jiang L and Wang X.
  TITLE     The miR-133b/brefeldin A-inhibited guanine nucleotide-exchange
            protein 1 (ARFGEF1) axis represses proliferation, invasion, and
            migration in cervical cancer cells
  JOURNAL   Bioengineered 13 (2), 3323-3332 (2022)
   PUBMED   35048795
  REMARK    GeneRIF: The miR-133b/brefeldin A-inhibited guanine
            nucleotide-exchange protein 1 (ARFGEF1) axis represses
            proliferation, invasion, and migration in cervical cancer cells.
REFERENCE   2  (residues 1 to 1849)
  AUTHORS   Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S,
            Isidor B, Cogne B, Conrad S, Tenconi R, Iascone M, Sorlin A,
            Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi
            NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA,
            Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them
            FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N,
            Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin
            J, Faivre L and Vitobello A.
  TITLE     Haploinsufficiency of ARFGEF1 is associated with developmental
            delay, intellectual disability, and epilepsy with variable
            expressivity
  JOURNAL   Genet Med 23 (10), 1901-1911 (2021)
   PUBMED   34113008
  REMARK    GeneRIF: Haploinsufficiency of ARFGEF1 is associated with
            developmental delay, intellectual disability, and epilepsy with
            variable expressivity.
REFERENCE   3  (residues 1 to 1849)
  AUTHORS   Liu L, Zhang S, Wang Y, Bao W, Zhou Y, Dang W, Wang X, Li H, Cao X,
            You Y, Fang H and Shen X.
  TITLE     BIG1 controls macrophage pro-inflammatory responses through
            ARF3-mediated PI(4,5)P2 synthesis
  JOURNAL   Cell Death Dis 11 (5), 374 (2020)
   PUBMED   32415087
  REMARK    GeneRIF: BIG1 controls macrophage pro-inflammatory responses
            through ARF3-mediated PI(4,5)P2 synthesis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1849)
  AUTHORS   Lu FI, Wang YT, Wang YS, Wu CY and Li CC.
  TITLE     Involvement of BIG1 and BIG2 in regulating VEGF expression and
            angiogenesis
  JOURNAL   FASEB J 33 (9), 9959-9973 (2019)
   PUBMED   31199673
  REMARK    GeneRIF: BIG1 and BIG2 knockdown significantly decreased the levels
            of VEGF mRNA and protein in glioblastoma U251 cells and HUVECs.
            Furthermore, depletion of BIG1 and BIG2 inhibited HUVEC
            angiogenesis by diminishing cell migration.
REFERENCE   5  (residues 1 to 1849)
  AUTHORS   Noguchi T, Tsuchida M, Kogue Y, Spadini C, Hirata Y and Matsuzawa
            A.
  TITLE     Brefeldin A-Inhibited Guanine Nucleotide-Exchange Factor 1 (BIG1)
            Governs the Recruitment of Tumor Necrosis Factor
            Receptor-Associated Factor 2 (TRAF2) to Tumor Necrosis Factor
            Receptor 1 (TNFR1) Signaling Complexes
  JOURNAL   Int J Mol Sci 17 (11), 1869 (2016)
   PUBMED   27834853
  REMARK    GeneRIF: The data demonstrate a novel and unexpected function of
            BIG1 that regulates TNFR1 signaling by targeting TRAF2.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1849)
  AUTHORS   Kamei Y, Takeda Y, Teramoto K, Tsutsumi O, Taketani Y and Watanabe
            K.
  TITLE     Human NB-2 of the contactin subgroup molecules: chromosomal
            localization of the gene (CNTN5) and distinct expression pattern
            from other subgroup members
  JOURNAL   Genomics 69 (1), 113-119 (2000)
   PUBMED   11013081
REFERENCE   7  (residues 1 to 1849)
  AUTHORS   Yamaji R, Adamik R, Takeda K, Togawa A, Pacheco-Rodriguez G,
            Ferrans VJ, Moss J and Vaughan M.
  TITLE     Identification and localization of two brefeldin A-inhibited
            guanine nucleotide-exchange proteins for ADP-ribosylation factors
            in a macromolecular complex
  JOURNAL   Proc Natl Acad Sci U S A 97 (6), 2567-2572 (2000)
   PUBMED   10716990
REFERENCE   8  (residues 1 to 1849)
  AUTHORS   Mansour SJ, Skaug J, Zhao XH, Giordano J, Scherer SW and Melancon
            P.
  TITLE     p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange
            protein whose Sec7 domain is targeted by the drug brefeldin A
  JOURNAL   Proc Natl Acad Sci U S A 96 (14), 7968-7973 (1999)
   PUBMED   10393931
REFERENCE   9  (residues 1 to 1849)
  AUTHORS   Togawa A, Morinaga N, Ogasawara M, Moss J and Vaughan M.
  TITLE     Purification and cloning of a brefeldin A-inhibited guanine
            nucleotide-exchange protein for ADP-ribosylation factors
  JOURNAL   J Biol Chem 274 (18), 12308-12315 (1999)
   PUBMED   10212200
REFERENCE   10 (residues 1 to 1849)
  AUTHORS   Morinaga N, Tsai SC, Moss J and Vaughan M.
  TITLE     Isolation of a brefeldin A-inhibited guanine nucleotide-exchange
            protein for ADP ribosylation factor (ARF) 1 and ARF3 that contains
            a Sec7-like domain
  JOURNAL   Proc Natl Acad Sci U S A 93 (23), 12856-12860 (1996)
   PUBMED   8917509
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021321.11 and AC087359.13.
            On Oct 27, 2022 this sequence version replaced XP_005251191.1.
            
            Summary: ADP-ribosylation factors (ARFs) play an important role in
            intracellular vesicular trafficking. The protein encoded by this
            gene is involved in the activation of ARFs by accelerating
            replacement of bound GDP with GTP. It contains a Sec7 domain, which
            may be responsible for guanine-nucleotide exchange activity and
            also brefeldin A inhibition. [provided by RefSeq, Aug 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.3014281.1,
                                           SRR14038193.3044322.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1849
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.2"
     Protein         1..1849
                     /product="brefeldin A-inhibited guanine
                     nucleotide-exchange protein 1 isoform 1"
                     /note="brefeldin A-inhibited guanine nucleotide-exchange
                     protein 1; p200 ARF guanine nucleotide exchange factor;
                     ADP-ribosylation factor guanine nucleotide-exchange factor
                     1 (brefeldin A-inhibited)"
                     /calculated_mol_wt=208637
     Region          2..224
                     /region_name="DCB, DCB:DCB domain and DCB:HUS domain
                     interaction"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Region          15..1766
                     /region_name="PLN03076"
                     /note="ARF guanine nucleotide exchange factor (ARF-GEF);
                     Provisional"
                     /db_xref="CDD:215560"
     Region          46..65
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            52
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Region          216..248
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Region          264..302
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            286
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:G3X9K3; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            289
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:G3X9K3; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            290
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:D4A631; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Region          378..413
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            397
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            410
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Region          557..577
                     /region_name="HUS, DCB:HUS domain interaction"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Region          711..715
                     /region_name="Nuclear localization signal (NLS)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            1079
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Region          1543..1562
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            1566
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:D4A631; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            1569
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     CDS             1..1849
                     /gene="ARFGEF1"
                     /gene_synonym="ARFGEP1; BIG1; DEDISB; P200"
                     /coded_by="NM_001413184.1:322..5871"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="GeneID:10565"
                     /db_xref="HGNC:HGNC:15772"
                     /db_xref="MIM:604141"
ORIGIN      
        1 myegkktknm fltralekil adkevkkahh sqlrkaceva leeikaetek qspphgeaka
       61 gsstlppvks ktnfieadky flpfelacqs kcprivstsl dclqkliayg hltgnapdst
      121 tpgkklidri ieticgcfqg pqtdegvqlq iikalltavt sqhieihegt vlqavrtcyn
      181 iylasknlin qttakatltq mlnvifarme nqalqeakqm ekerhrqhhh llqspvshhe
      241 pespqlrylp pqtvdhisqe hegdldlhtn dvdkslqddt epengsdiss aeneqteadq
      301 ataaetlskn evlydgenhd ceekpqdivq niveemvniv vgdmgegtti nasadgnigt
      361 iedgsdseni qangipgtpi svaytpslpd drlsvssndt qesgnssgps pgakfshilq
      421 kdaflvfrsl cklsmkplsd gppdpkshel rskilslqll lsilqnagpi frtnemfina
      481 ikqylcvals kngvssvpev felslsiflt llsnfkthlk mqievffkei flyiletsts
      541 sfdhkwmviq tltricadaq svvdiyvnyd cdlnaanife rlvndlskia qgrgsqelgm
      601 snvqelslrk kgleclvsil kcmvewskdq yvnpnsqttl gqekpseqem seikhpetin
      661 rygslnsles tsssgigsys tqmsgtdnpe qfevlkqqke iieqgidlfn kkpkrgiqyl
      721 qeqgmlgttp ediaqflhqe erldstqvge flgdndkfnk evmyayvdqh dfsgkdfvsa
      781 lrmflegfrl pgeaqkidrl mekfaaryle cnqgqtlfas adtayvlays iimlttdlhs
      841 pqvknkmtke qyikmnrgin dskdlpeeyl saiyneiagk kismketkel tiptksskqn
      901 vasekqrrll ynlemeqmak takalmeavs hvqapftsat hlehvrpmfk lawtpflaaf
      961 svglqdcddt evaslclegi rcairiacif siqlerdayv qalarftllt vssgitemkq
     1021 knidtiktli tvahtdgnyl gnswheilkc isqlelaqli gtgvkpryis gtvrgregsl
     1081 tgtkdqapde fvglglvggn vdwkqiasiq esigetssqs vvvavdrift gstrldgnai
     1141 vdfvrwlcav smdellstth prmfslqkiv eisyynmgri rlqwsriwev igdhfnkvgc
     1201 npnedvaifa vdslrqlsmk flekgelanf rfqkdflrpf ehimkrnrsp tirdmvvrci
     1261 aqmvnsqaan irsgwknifs vfhlaasdqd esivelafqt tghivtlvfe khfpatidsf
     1321 qdavkclsef acnaafpdts meairlirhc akyvsdrpqa fkeytsddmn vapedrvwvr
     1381 gwfpilfels ciinrckldv rtrgltvmfe imktyghtye khwwqdlfri vfrifdnmkl
     1441 peqqtekaew mtttcnhaly aicdvftqyl evlsdvlldd ifaqlywcvq qdneqlarsg
     1501 tnclenvvil ngekftleiw dktcnctldi fkttiphall twrpnsgeta ppppspvsek
     1561 pldtisqksv dihdsiqprs vdnrpqaplv sasavneevs kikstakfpe qklfaallik
     1621 cvvqleliqt idnivffpat skkedaenla aaqrdavdfd vrvdtqdqgm yrfltsqqlf
     1681 klldcllesh rfakafnsnn eqrtalwkag fkgkskpnll kqetsslacg lrilfrmymd
     1741 esrvsaweev qqrllnvcse alsyfltlts eshreawtnl lllfltkvlk isdnrfkaha
     1801 sfyypllcei mqfdlipelr avlrrfflri gvvfqisqpp eqelginkq
//
LOCUS       NP_001340223             178 aa            linear   PRI 22-JAN-2023
DEFINITION  CYFIP-related Rac1 interactor B isoform 2 [Homo sapiens].
ACCESSION   NP_001340223
VERSION     NP_001340223.1
DBSOURCE    REFSEQ: accession NM_001353294.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 178)
  AUTHORS   Xi Y, Zhang T, Sun W, Liang R, Ganesh S and Chen H.
  TITLE     GOLM1 and FAM49B: Potential Biomarkers in HNSCC Based on
            Bioinformatics and Immunohistochemical Analysis
  JOURNAL   Int J Mol Sci 23 (23), 15433 (2022)
   PUBMED   36499755
  REMARK    GeneRIF: GOLM1 and FAM49B: Potential Biomarkers in HNSCC Based on
            Bioinformatics and Immunohistochemical Analysis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 178)
  AUTHORS   Yelland T, Le AH, Nikolaou S, Insall R, Machesky L and Ismail S.
  TITLE     Structural Basis of CYRI-B Direct Competition with Scar/WAVE
            Complex for Rac1
  JOURNAL   Structure 29 (3), 226-237 (2021)
   PUBMED   33217330
  REMARK    GeneRIF: Structural Basis of CYRI-B Direct Competition with
            Scar/WAVE Complex for Rac1.
REFERENCE   3  (residues 1 to 178)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 178)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 178)
  AUTHORS   Zhang Y, Du P, Li Y, Zhu Q, Song X, Liu S, Hao J, Liu L, Liu F, Hu
            Y, Jiang L, Ma Q, Lu W and Liu Y.
  TITLE     TASP1 Promotes Gallbladder Cancer Cell Proliferation and Metastasis
            by Up-regulating FAM49B via PI3K/AKT Pathway
  JOURNAL   Int J Biol Sci 16 (5), 739-751 (2020)
   PUBMED   32071545
  REMARK    GeneRIF: TASP1 Promotes Gallbladder Cancer Cell Proliferation and
            Metastasis by Up-regulating FAM49B via PI3K/AKT Pathway.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 178)
  AUTHORS   Nalls MA, Couper DJ, Tanaka T, van Rooij FJ, Chen MH, Smith AV,
            Toniolo D, Zakai NA, Yang Q, Greinacher A, Wood AR, Garcia M,
            Gasparini P, Liu Y, Lumley T, Folsom AR, Reiner AP, Gieger C, Lagou
            V, Felix JF, Volzke H, Gouskova NA, Biffi A, Doring A, Volker U,
            Chong S, Wiggins KL, Rendon A, Dehghan A, Moore M, Taylor K, Wilson
            JG, Lettre G, Hofman A, Bis JC, Pirastu N, Fox CS, Meisinger C,
            Sambrook J, Arepalli S, Nauck M, Prokisch H, Stephens J, Glazer NL,
            Cupples LA, Okada Y, Takahashi A, Kamatani Y, Matsuda K, Tsunoda T,
            Tanaka T, Kubo M, Nakamura Y, Yamamoto K, Kamatani N, Stumvoll M,
            Tonjes A, Prokopenko I, Illig T, Patel KV, Garner SF, Kuhnel B,
            Mangino M, Oostra BA, Thein SL, Coresh J, Wichmann HE, Menzel S,
            Lin J, Pistis G, Uitterlinden AG, Spector TD, Teumer A,
            Eiriksdottir G, Gudnason V, Bandinelli S, Frayling TM, Chakravarti
            A, van Duijn CM, Melzer D, Ouwehand WH, Levy D, Boerwinkle E,
            Singleton AB, Hernandez DG, Longo DL, Soranzo N, Witteman JC, Psaty
            BM, Ferrucci L, Harris TB, O'Donnell CJ and Ganesh SK.
  TITLE     Multiple loci are associated with white blood cell phenotypes
  JOURNAL   PLoS Genet 7 (6), e1002113 (2011)
   PUBMED   21738480
REFERENCE   7  (residues 1 to 178)
  AUTHORS   Buschow SI, van Balkom BW, Aalberts M, Heck AJ, Wauben M and
            Stoorvogel W.
  TITLE     MHC class II-associated proteins in B-cell exosomes and potential
            functional implications for exosome biogenesis
  JOURNAL   Immunol Cell Biol 88 (8), 851-856 (2010)
   PUBMED   20458337
REFERENCE   8  (residues 1 to 178)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   9  (residues 1 to 178)
  AUTHORS   Melzer D, Perry JR, Hernandez D, Corsi AM, Stevens K, Rafferty I,
            Lauretani F, Murray A, Gibbs JR, Paolisso G, Rafiq S, Simon-Sanchez
            J, Lango H, Scholz S, Weedon MN, Arepalli S, Rice N, Washecka N,
            Hurst A, Britton A, Henley W, van de Leemput J, Li R, Newman AB,
            Tranah G, Harris T, Panicker V, Dayan C, Bennett A, McCarthy MI,
            Ruokonen A, Jarvelin MR, Guralnik J, Bandinelli S, Frayling TM,
            Singleton A and Ferrucci L.
  TITLE     A genome-wide association study identifies protein quantitative
            trait loci (pQTLs)
  JOURNAL   PLoS Genet 4 (5), e1000072 (2008)
   PUBMED   18464913
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 178)
  AUTHORS   Petroziello J, Yamane A, Westendorf L, Thompson M, McDonagh C,
            Cerveny C, Law CL, Wahl A and Carter P.
  TITLE     Suppression subtractive hybridization and expression profiling
            identifies a unique set of genes overexpressed in non-small-cell
            lung cancer
  JOURNAL   Oncogene 23 (46), 7734-7745 (2004)
   PUBMED   15334068
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131568.5 and AC022973.5.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.498161.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..178
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.21"
     Protein         1..178
                     /product="CYFIP-related Rac1 interactor B isoform 2"
                     /note="protein FAM49B; FAM49B/JPH1 fusion; MTSS1/FAM49B
                     fusion; family with sequence similarity 49 member B"
                     /calculated_mol_wt=20062
     Region          <1..174
                     /region_name="DUF1394"
                     /note="Protein of unknown function (DUF1394); pfam07159"
                     /db_xref="CDD:429323"
     CDS             1..178
                     /gene="CYRIB"
                     /gene_synonym="BM-009; CYRI; CYRI-B; FAM49B; L1"
                     /coded_by="NM_001353294.2:713..1249"
                     /note="isoform 2 is encoded by transcript variant 56"
                     /db_xref="CCDS:CCDS83327.1"
                     /db_xref="GeneID:51571"
                     /db_xref="HGNC:HGNC:25216"
                     /db_xref="MIM:617978"
ORIGIN      
        1 mtnpaiqndf syyrrtlsrm rinnvpaege nevnnelanr mslfyaeatp mlktlsdatt
       61 kfvsenknlp ienttdclst masvcrvmle tpeyrsrftn eetvsfclrv mvgviilydh
      121 vhpvgafakt skidmkgcik vlkdqppnsv egllnalryt tkhlndetts kqiksmlq
//
LOCUS       NP_004303                388 aa            linear   PRI 22-JAN-2023
DEFINITION  arrestin-C [Homo sapiens].
ACCESSION   NP_004303
VERSION     NP_004303.2
DBSOURCE    REFSEQ: accession NM_004312.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 388)
  AUTHORS   Manning JJ, Rawcliffe G, Finlay DB and Glass M.
  TITLE     Cannabinoid 1 (CB1) receptor arrestin subtype-selectivity and
            phosphorylation dependence
  JOURNAL   Br J Pharmacol 180 (3), 369-382 (2023)
   PUBMED   36250246
  REMARK    GeneRIF: Cannabinoid 1 (CB1) receptor arrestin subtype-selectivity
            and phosphorylation dependence.
REFERENCE   2  (residues 1 to 388)
  AUTHORS   van Mazijk R, Haarman AEG, Hoefsloot LH, Polling JR, van Tienhoven
            M, Klaver CCW, Verhoeven VJM, Loudon SE, Thiadens AAHJ and Kievit
            AJA.
  TITLE     Early onset X-linked female limited high myopia in three
            multigenerational families caused by novel mutations in the ARR3
            gene
  JOURNAL   Hum Mutat 43 (3), 380-388 (2022)
   PUBMED   35001458
  REMARK    GeneRIF: Early onset X-linked female limited high myopia in three
            multigenerational families caused by novel mutations in the ARR3
            gene.
REFERENCE   3  (residues 1 to 388)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 388)
  AUTHORS   Perry NA, Kaoud TS, Ortega OO, Kaya AI, Marcus DJ, Pleinis JM,
            Berndt S, Chen Q, Zhan X, Dalby KN, Lopez CF, Iverson TM and
            Gurevich VV.
  TITLE     Arrestin-3 scaffolding of the JNK3 cascade suggests a mechanism for
            signal amplification
  JOURNAL   Proc Natl Acad Sci U S A 116 (3), 810-815 (2019)
   PUBMED   30591558
  REMARK    GeneRIF: >15-fold higher affinity for inactive JNK3 than for active
            JNK3; shift in the binding site following JNK3 activation
REFERENCE   5  (residues 1 to 388)
  AUTHORS   Wanka L, Babilon S, Kaiser A, Morl K and Beck-Sickinger AG.
  TITLE     Different mode of arrestin-3 binding at the human Y1 and Y2
            receptor
  JOURNAL   Cell Signal 50, 58-71 (2018)
   PUBMED   29944985
  REMARK    GeneRIF: The Y1R is able to bind Galpha0 protein as well as arr-3
            simultaneously and internalizes as a supercomplex.
REFERENCE   6  (residues 1 to 388)
  AUTHORS   Orsini MJ and Benovic JL.
  TITLE     Characterization of dominant negative arrestins that inhibit
            beta2-adrenergic receptor internalization by distinct mechanisms
  JOURNAL   J Biol Chem 273 (51), 34616-34622 (1998)
   PUBMED   9852134
REFERENCE   7  (residues 1 to 388)
  AUTHORS   Sakuma H, Murakami A, Fujimaki T and Inana G.
  TITLE     Isolation and characterization of the human X-arrestin gene
  JOURNAL   Gene 224 (1-2), 87-95 (1998)
   PUBMED   9931451
REFERENCE   8  (residues 1 to 388)
  AUTHORS   Sakuma H, Inana G, Murakami A, Higashide T and McLaren MJ.
  TITLE     Immunolocalization of X-arrestin in human cone photoreceptors
  JOURNAL   FEBS Lett 382 (1-2), 105-110 (1996)
   PUBMED   8612728
REFERENCE   9  (residues 1 to 388)
  AUTHORS   Craft CM, Whitmore DH and Wiechmann AF.
  TITLE     Cone arrestin identified by targeting expression of a functional
            family
  JOURNAL   J Biol Chem 269 (6), 4613-4619 (1994)
   PUBMED   8308033
  REMARK    Erratum:[J Biol Chem 1994 Jul 1;269(26):17756]
REFERENCE   10 (residues 1 to 388)
  AUTHORS   Murakami A, Yajima T, Sakuma H, McLaren MJ and Inana G.
  TITLE     X-arrestin: a new retinal arrestin mapping to the X chromosome
  JOURNAL   FEBS Lett 334 (2), 203-209 (1993)
   PUBMED   8224247
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL357752.19, BG472156.1,
            AF033105.1 and BC012096.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 16, 2007 this sequence version replaced NP_004303.1.
            
            Summary: The protein encoded by this gene is a non-visual arrestin
            which binds to agonist-activated, phosphorylated G protein-coupled
            receptors. This binding uncouples the receptor from the
            heterotrimeric G protein, resulting in termination of the G
            protein-coupled receptor signaling. The encoded protein also is a
            part of the centrosome, interacting with gamma-tubulin to help
            regulate proper centrosome function. [provided by RefSeq, May
            2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF033105.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307959.9/ ENSP00000311538.8
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..388
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     Protein         1..388
                     /product="arrestin-C"
                     /note="arrestin 4; C-arrestin; retinal cone arrestin-3;
                     arrestin 3 retinal (X-arrestin)"
                     /calculated_mol_wt=42647
     Region          14..171
                     /region_name="Arrestin_N"
                     /note="Arrestin (or S-antigen), N-terminal domain;
                     cl22903"
                     /db_xref="CDD:451447"
     Region          193..353
                     /region_name="Arrestin_C"
                     /note="Arrestin (or S-antigen), C-terminal domain;
                     smart01017"
                     /db_xref="CDD:214976"
     CDS             1..388
                     /gene="ARR3"
                     /gene_synonym="ARRX; cArr; MYP26"
                     /coded_by="NM_004312.3:70..1236"
                     /db_xref="CCDS:CCDS14399.1"
                     /db_xref="GeneID:407"
                     /db_xref="HGNC:HGNC:710"
                     /db_xref="MIM:301770"
ORIGIN      
        1 mskvfkktss ngklsiylgk rdfvdhvdtv epidgvvlvd peylkcrklf vmltcafryg
       61 rddleviglt frkdlyvqtl qvvpaesssp qgpltvlqer llhklgdnay pftlqmvtnl
      121 pcsvtlqpgp edagkpcgid fevksfcaen peetvskrdy vrlvvrkvqf appeagpgps
      181 aqtirrflls aqplqlqawm drevhyhgep isvnvsinnc tnkvikkiki svdqitdvvl
      241 ysldkytktv fiqeftetva anssfsqsfa vtpilaascq krglaldgkl khedtnlass
      301 tiirpgmdke llgilvsykv rvnlmvscgg ilgdltasdv gvelplvlih pkpsheaass
      361 edivieeftr kgeeesqkav eaegdegs
//
LOCUS       NP_005718                241 aa            linear   PRI 22-JAN-2023
DEFINITION  tetraspanin-1 [Homo sapiens].
ACCESSION   NP_005718
VERSION     NP_005718.2
DBSOURCE    REFSEQ: accession NM_005727.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 241)
  AUTHORS   Ou Y, Chen R, Qian Q, Cui N, Miao Q, Tang R, You Z, Ma X and Wang
            Q.
  TITLE     The immunological characteristics of TSPAN1 expressing B cells in
            autoimmune hepatitis
  JOURNAL   Front Immunol 13, 1076594 (2022)
   PUBMED   36591302
  REMARK    GeneRIF: The immunological characteristics of TSPAN1 expressing B
            cells in autoimmune hepatitis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 241)
  AUTHORS   Wu Y, Chen W, Gong Y, Liu H and Zhang B.
  TITLE     Tetraspanin 1 (TSPAN1) promotes growth and transferation of breast
            cancer cells via mediating PI3K/Akt pathway
  JOURNAL   Bioengineered 12 (2), 10761-10770 (2021)
   PUBMED   34852709
  REMARK    GeneRIF: Tetraspanin 1 (TSPAN1) promotes growth and transferation
            of breast cancer cells via mediating PI3K/Akt pathway.
REFERENCE   3  (residues 1 to 241)
  AUTHORS   Wang L, Gao P, Yuan P, Zhou P, Fan H, Lin X, Yuan X, Zhu M, Fan X,
            Lu Y and Wang Z.
  TITLE     miR-573 suppresses pancreatic cancer cell proliferation, migration,
            and invasion through targeting TSPAN1
  JOURNAL   Strahlenther Onkol 197 (5), 438-448 (2021)
   PUBMED   33320287
  REMARK    GeneRIF: miR-573 suppresses pancreatic cancer cell proliferation,
            migration, and invasion through targeting TSPAN1.
REFERENCE   4  (residues 1 to 241)
  AUTHORS   Stinnesbeck M, Kristiansen A, Ellinger J, Hauser S, Egevad L,
            Tolkach Y and Kristiansen G.
  TITLE     Prognostic role of TSPAN1, KIAA1324 and ESRP1 in prostate cancer
  JOURNAL   APMIS 129 (4), 204-212 (2021)
   PUBMED   33455017
  REMARK    GeneRIF: Prognostic role of TSPAN1, KIAA1324 and ESRP1 in prostate
            cancer.
REFERENCE   5  (residues 1 to 241)
  AUTHORS   Shin HY, Yang W, Chay DB, Lee EJ, Chung JY, Kim HS and Kim JH.
  TITLE     Tetraspanin 1 promotes endometriosis leading to ovarian clear cell
            carcinoma
  JOURNAL   Mol Oncol 15 (4), 987-1004 (2021)
   PUBMED   33331115
  REMARK    GeneRIF: Tetraspanin 1 promotes endometriosis leading to ovarian
            clear cell carcinoma.
REFERENCE   6  (residues 1 to 241)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   7  (residues 1 to 241)
  AUTHORS   Wollscheid V, Kuhne-Heid R, Stein I, Jansen L, Kollner S, Schneider
            A and Durst M.
  TITLE     Identification of a new proliferation-associated protein NET-1/C4.8
            characteristic for a subset of high-grade cervical intraepithelial
            neoplasia and cervical carcinomas
  JOURNAL   Int J Cancer 99 (6), 771-775 (2002)
   PUBMED   12115476
  REMARK    GeneRIF: Overexpression of NET-1 is associated with
            undifferentiated squamous cell carcinoma of cervical neoplasms
REFERENCE   8  (residues 1 to 241)
  AUTHORS   Berditchevski F.
  TITLE     Complexes of tetraspanins with integrins: more than meets the eye
  JOURNAL   J Cell Sci 114 (Pt 23), 4143-4151 (2001)
   PUBMED   11739647
  REMARK    Review article
REFERENCE   9  (residues 1 to 241)
  AUTHORS   Serru V, Dessen P, Boucheix C and Rubinstein E.
  TITLE     Sequence and expression of seven new tetraspans
  JOURNAL   Biochim Biophys Acta 1478 (1), 159-163 (2000)
   PUBMED   10719184
REFERENCE   10 (residues 1 to 241)
  AUTHORS   Todd SC, Doctor VS and Levy S.
  TITLE     Sequences and expression of six new members of the
            tetraspanin/TM4SF family
  JOURNAL   Biochim Biophys Acta 1399 (1), 101-104 (1998)
   PUBMED   9714763
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313774.1, AF065388.1 and
            BM856468.1.
            On May 30, 2002 this sequence version replaced NP_005718.1.
            
            Summary: The protein encoded by this gene is a member of the
            transmembrane 4 superfamily, also known as the tetraspanin family.
            Most of these members are cell-surface proteins that are
            characterized by the presence of four hydrophobic domains. The
            proteins mediate signal transduction events that play a role in the
            regulation of cell development, activation, growth and motility.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.211294.1,
                                           SRR5189667.345078.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372003.6/ ENSP00000361072.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..241
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     Protein         1..241
                     /product="tetraspanin-1"
                     /note="tetraspan 1"
                     /calculated_mol_wt=26170
     Region          7..238
                     /region_name="Tetraspannin"
                     /note="Tetraspanin family; pfam00335"
                     /db_xref="CDD:425616"
     Site            12..32
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60635.2)"
     Site            53..73
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60635.2)"
     Site            89..109
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60635.2)"
     Site            141
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19508227; propagated from
                     UniProtKB/Swiss-Prot (O60635.2)"
     Site            154
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19508227; propagated from
                     UniProtKB/Swiss-Prot (O60635.2)"
     Site            178
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19508227; propagated from
                     UniProtKB/Swiss-Prot (O60635.2)"
     Site            184
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19508227; propagated from
                     UniProtKB/Swiss-Prot (O60635.2)"
     Site            212..232
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60635.2)"
     CDS             1..241
                     /gene="TSPAN1"
                     /gene_synonym="NET1; TM4C; TM4SF"
                     /coded_by="NM_005727.4:465..1190"
                     /db_xref="CCDS:CCDS530.1"
                     /db_xref="GeneID:10103"
                     /db_xref="HGNC:HGNC:20657"
                     /db_xref="MIM:613170"
ORIGIN      
        1 mqcfsfiktm milfnllifl cgaallavgi wvsidgasfl kifgplsssa mqfvnvgyfl
       61 iaagvvvfal gflgcygakt eskcalvtff filllifiae vaaavvalvy ttmaehfltl
      121 lvvpaikkdy gsqedftqvw nttmkglkcc gftnytdfed spyfkensaf ppfccndnvt
      181 ntanetctkq kahdqkvegc fnqllydirt navtvggvaa gigglelaam ivsmylycnl
      241 q
//
LOCUS       NP_653192                106 aa            linear   PRI 07-FEB-2023
DEFINITION  BLOC-1-related complex subunit 7 [Homo sapiens].
ACCESSION   NP_653192
VERSION     NP_653192.2
DBSOURCE    REFSEQ: accession NM_144591.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 106)
  AUTHORS   Tunganuntarat J, Kanjanasirirat P, Khumpanied T, Benjaskulluecha S,
            Wongprom B, Palaga T, Siregar TAP, Borwornpinyo S, Chaiprasert A,
            Palittapongarnpim P and Ponpuak M.
  TITLE     BORC complex specific components and Kinesin-1 mediate autophagy
            evasion by the autophagy-resistant Mycobacterium tuberculosis
            Beijing strain
  JOURNAL   Sci Rep 13 (1), 1663 (2023)
   PUBMED   36717601
  REMARK    GeneRIF: BORC complex specific components and Kinesin-1 mediate
            autophagy evasion by the autophagy-resistant Mycobacterium
            tuberculosis Beijing strain.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 106)
  AUTHORS   D'Ambrosio E, Dahoun T, Pardinas AF, Veronese M, Bloomfield MAP,
            Jauhar S, Bonoldi I, Rogdaki M, Froudist-Walsh S, Walters JTR and
            Howes OD.
  TITLE     The effect of a genetic variant at the schizophrenia associated
            AS3MT/BORCS7 locus on striatal dopamine function: A PET imaging
            study
  JOURNAL   Psychiatry Res Neuroimaging 291, 34-41 (2019)
   PUBMED   31386983
  REMARK    GeneRIF: effect of a genetic variant at the schizophrenia
            associated AS3MT/BORCS7 locus on striatal dopamine function: a PET
            imaging study
REFERENCE   3  (residues 1 to 106)
  AUTHORS   Yordanov TE, Hipolito VEB, Liebscher G, Vogel GF, Stasyk T,
            Herrmann C, Geley S, Teis D, Botelho RJ, Hess MW and Huber LA.
  TITLE     Biogenesis of lysosome-related organelles complex-1 (BORC)
            regulates late endosomal/lysosomal size through PIKfyve-dependent
            phosphatidylinositol-3,5-bisphosphate
  JOURNAL   Traffic 20 (9), 674-696 (2019)
   PUBMED   31314175
REFERENCE   4  (residues 1 to 106)
  AUTHORS   Das N, Giri A, Chakraborty S and Bhattacharjee P.
  TITLE     Association of single nucleotide polymorphism with arsenic-induced
            skin lesions and genetic damage in exposed population of West
            Bengal, India
  JOURNAL   Mutat Res Genet Toxicol Environ Mutagen 809, 50-56 (2016)
   PUBMED   27692299
  REMARK    GeneRIF: Sngle nucleotide polymorphism in c10orf32 gene is
            associated with skin lesions.
REFERENCE   5  (residues 1 to 106)
  AUTHORS   Li M, Jaffe AE, Straub RE, Tao R, Shin JH, Wang Y, Chen Q, Li C,
            Jia Y, Ohi K, Maher BJ, Brandon NJ, Cross A, Chenoweth JG, Hoeppner
            DJ, Wei H, Hyde TM, McKay R, Kleinman JE and Weinberger DR.
  TITLE     A human-specific AS3MT isoform and BORCS7 are molecular risk
            factors in the 10q24.32 schizophrenia-associated locus
  JOURNAL   Nat Med 22 (6), 649-656 (2016)
   PUBMED   27158905
  REMARK    GeneRIF: Risk alleles spanning multiple genes across the 10q24.32
            schizophrenia-related locus are associated in the human brain
            selectively with an increase in the expression of both BLOC-1
            related complex subunit 7 (BORCS7) and a previously
            uncharacterized, human-specific arsenite methyltransferase (AS3MT)
            isoform (AS3MTd2d3).
REFERENCE   6  (residues 1 to 106)
  AUTHORS   Ripke S, O'Dushlaine C, Chambert K, Moran JL, Kahler AK, Akterin S,
            Bergen SE, Collins AL, Crowley JJ, Fromer M, Kim Y, Lee SH,
            Magnusson PK, Sanchez N, Stahl EA, Williams S, Wray NR, Xia K,
            Bettella F, Borglum AD, Bulik-Sullivan BK, Cormican P, Craddock N,
            de Leeuw C, Durmishi N, Gill M, Golimbet V, Hamshere ML, Holmans P,
            Hougaard DM, Kendler KS, Lin K, Morris DW, Mors O, Mortensen PB,
            Neale BM, O'Neill FA, Owen MJ, Milovancevic MP, Posthuma D, Powell
            J, Richards AL, Riley BP, Ruderfer D, Rujescu D, Sigurdsson E,
            Silagadze T, Smit AB, Stefansson H, Steinberg S, Suvisaari J,
            Tosato S, Verhage M, Walters JT, Levinson DF, Gejman PV, Kendler
            KS, Laurent C, Mowry BJ, O'Donovan MC, Owen MJ, Pulver AE, Riley
            BP, Schwab SG, Wildenauer DB, Dudbridge F, Holmans P, Shi J, Albus
            M, Alexander M, Campion D, Cohen D, Dikeos D, Duan J, Eichhammer P,
            Godard S, Hansen M, Lerer FB, Liang KY, Maier W, Mallet J, Nertney
            DA, Nestadt G, Norton N, O'Neill FA, Papadimitriou GN, Ribble R,
            Sanders AR, Silverman JM, Walsh D, Williams NM, Wormley B, Arranz
            MJ, Bakker S, Bender S, Bramon E, Collier D, Crespo-Facorro B, Hall
            J, Iyegbe C, Jablensky A, Kahn RS, Kalaydjieva L, Lawrie S, Lewis
            CM, Lin K, Linszen DH, Mata I, McIntosh A, Murray RM, Ophoff RA,
            Powell J, Rujescu D, Van Os J, Walshe M, Weisbrod M, Wiersma D,
            Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP,
            Corvin AP, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew
            CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC,
            Viswanathan AC, Wood NW, Spencer CC, Band G, Bellenguez C, Freeman
            C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson RD, Strange A,
            Su Z, Vukcevic D, Donnelly P, Langford C, Hunt SE, Edkins S,
            Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E,
            Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC,
            Ravindrarajah R, Ricketts M, Tashakkori-Ghanbaria A, Waller MJ,
            Weston P, Widaa S, Whittaker P, Barroso I, Deloukas P, Mathew CG,
            Blackwell JM, Brown MA, Corvin AP, McCarthy MI, Spencer CC, Bramon
            E, Corvin AP, O'Donovan MC, Stefansson K, Scolnick E, Purcell S,
            McCarroll SA, Sklar P, Hultman CM and Sullivan PF.
  CONSRTM   Multicenter Genetic Studies of Schizophrenia Consortium; Psychosis
            Endophenotypes International Consortium; Wellcome Trust Case
            Control Consortium 2
  TITLE     Genome-wide association analysis identifies 13 new risk loci for
            schizophrenia
  JOURNAL   Nat Genet 45 (10), 1150-1159 (2013)
   PUBMED   23974872
REFERENCE   7  (residues 1 to 106)
  AUTHORS   Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA,
            Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J,
            Jugurnauth-Little S, Dadaev T, Neal DE, Hamdy FC, Donovan JL, Muir
            K, Giles GG, Severi G, Wiklund F, Gronberg H, Haiman CA, Schumacher
            F, Henderson BE, Le Marchand L, Lindstrom S, Kraft P, Hunter DJ,
            Gapstur S, Chanock SJ, Berndt SI, Albanes D, Andriole G, Schleutker
            J, Weischer M, Canzian F, Riboli E, Key TJ, Travis RC, Campa D,
            Ingles SA, John EM, Hayes RB, Pharoah PD, Pashayan N, Khaw KT,
            Stanford JL, Ostrander EA, Signorello LB, Thibodeau SN, Schaid D,
            Maier C, Vogel W, Kibel AS, Cybulski C, Lubinski J, Cannon-Albright
            L, Brenner H, Park JY, Kaneva R, Batra J, Spurdle AB, Clements JA,
            Teixeira MR, Dicks E, Lee A, Dunning AM, Baynes C, Conroy D,
            Maranian MJ, Ahmed S, Govindasami K, Guy M, Wilkinson RA, Sawyer
            EJ, Morgan A, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker
            CC, Van As NJ, Woodhouse CJ, Thompson A, Dudderidge T, Ogden C,
            Cooper CS, Lophatananon A, Cox A, Southey MC, Hopper JL, English
            DR, Aly M, Adolfsson J, Xu J, Zheng SL, Yeager M, Kaaks R, Diver
            WR, Gaudet MM, Stern MC, Corral R, Joshi AD, Shahabi A, Wahlfors T,
            Tammela TL, Auvinen A, Virtamo J, Klarskov P, Nordestgaard BG,
            Roder MA, Nielsen SF, Bojesen SE, Siddiq A, Fitzgerald LM, Kolb S,
            Kwon EM, Karyadi DM, Blot WJ, Zheng W, Cai Q, McDonnell SK,
            Rinckleb AE, Drake B, Colditz G, Wokolorczyk D, Stephenson RA,
            Teerlink C, Muller H, Rothenbacher D, Sellers TA, Lin HY, Slavov C,
            Mitev V, Lose F, Srinivasan S, Maia S, Paulo P, Lange E, Cooney KA,
            Antoniou AC, Vincent D, Bacot F, Tessier DC, Kote-Jarai Z and
            Easton DF.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391e3912 (2013)
   PUBMED   23535732
REFERENCE   8  (residues 1 to 106)
  AUTHORS   Pierce BL, Kibriya MG, Tong L, Jasmine F, Argos M, Roy S,
            Paul-Brutus R, Rahaman R, Rakibuz-Zaman M, Parvez F, Ahmed A,
            Quasem I, Hore SK, Alam S, Islam T, Slavkovich V, Gamble MV, Yunus
            M, Rahman M, Baron JA, Graziano JH and Ahsan H.
  TITLE     Genome-wide association study identifies chromosome 10q24.32
            variants associated with arsenic metabolism and toxicity phenotypes
            in Bangladesh
  JOURNAL   PLoS Genet 8 (2), e1002522 (2012)
   PUBMED   22383894
REFERENCE   9  (residues 1 to 106)
  AUTHORS   Simon-Sanchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D,
            Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Kruger R,
            Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA,
            Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA,
            Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S,
            Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ,
            Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz
            D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB and Gasser T.
  TITLE     Genome-wide association study reveals genetic risk underlying
            Parkinson's disease
  JOURNAL   Nat Genet 41 (12), 1308-1312 (2009)
   PUBMED   19915575
REFERENCE   10 (residues 1 to 106)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA006534.1, BC015994.1, BP419064.1, AI147530.1, AA299084.1 and
            AW058660.1.
            On Oct 25, 2008 this sequence version replaced NP_653192.1.
            
            Transcript Variant: This variant (2) lacks a segment of the 3' UTR,
            compared to variant 1. Both variants 1 and 2 encode the same
            protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.919372.1, HY000079.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..106
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.32"
     Protein         1..106
                     /product="BLOC-1-related complex subunit 7"
                     /note="UPF0693 protein C10orf32; diaskedin"
                     /calculated_mol_wt=11564
     Region          1..104
                     /region_name="BORCS7"
                     /note="BLOC-1-related complex sub-unit 7; pfam16088"
                     /db_xref="CDD:406483"
     CDS             1..106
                     /gene="BORCS7"
                     /gene_synonym="C10orf32"
                     /coded_by="NM_144591.5:29..349"
                     /db_xref="CCDS:CCDS7542.2"
                     /db_xref="GeneID:119032"
                     /db_xref="HGNC:HGNC:23516"
                     /db_xref="MIM:616600"
ORIGIN      
        1 mmatgtpesq arfgqsvkgl ltekvttcgt dvialtkqvl kgsrssellg qaarnmvlqe
       61 dailhsedsl rkmaiitthl qyqqeaiqkn veqssdlqdq lnhllk
//
LOCUS       NP_861445                289 aa            linear   PRI 12-FEB-2023
DEFINITION  B- and T-lymphocyte attenuator isoform 1 precursor [Homo sapiens].
ACCESSION   NP_861445
VERSION     NP_861445.4
DBSOURCE    REFSEQ: accession NM_181780.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 289)
  AUTHORS   Andrzejczak A, Partyka A, Wisniewski A, Porebska I, Pawelczyk K,
            Ptaszkowski K, Kusnierczyk P, Jasek M and Karabon L.
  TITLE     The association of BTLA gene polymorphisms with non-small lung
            cancer risk in smokers and never-smokers
  JOURNAL   Front Immunol 13, 1006639 (2023)
   PUBMED   36741370
  REMARK    GeneRIF: The association of BTLA gene polymorphisms with non-small
            lung cancer risk in smokers and never-smokers.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 289)
  AUTHORS   Cheng TY, Liu YJ, Yan H, Xi YB, Duan LQ, Wang Y, Zhang TT, Gu YM,
            Wang XD, Wu CX and Gao S.
  TITLE     Tumor Cell-Intrinsic BTLA Receptor Inhibits the Proliferation of
            Tumor Cells via ERK1/2
  JOURNAL   Cells 11 (24), 4021 (2022)
   PUBMED   36552785
  REMARK    GeneRIF: Tumor Cell-Intrinsic BTLA Receptor Inhibits the
            Proliferation of Tumor Cells via ERK1/2.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 289)
  AUTHORS   Battin C, Leitner J, Waidhofer-Sollner P, Grabmeier-Pfistershammer
            K, Olive D and Steinberger P.
  TITLE     BTLA inhibition has a dominant role in the cis-complex of BTLA and
            HVEM
  JOURNAL   Front Immunol 13, 956694 (2022)
   PUBMED   36081508
  REMARK    GeneRIF: BTLA inhibition has a dominant role in the cis-complex of
            BTLA and HVEM.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 289)
  AUTHORS   Chen J, Wang J, Liu R, Xiong H, Liu Y, Zha M, Li Q, Liu X, Shang M
            and Li Y.
  TITLE     The correlation of BTLA rs1982809 polymorphism with cancer
            susceptibility: A meta-analysis of 8634 participators
  JOURNAL   Medicine (Baltimore) 101 (31), e29610 (2022)
   PUBMED   35945755
  REMARK    GeneRIF: The correlation of BTLA rs1982809 polymorphism with cancer
            susceptibility: A meta-analysis of 8634 participators.
REFERENCE   5  (residues 1 to 289)
  AUTHORS   Penatzer JA, Alexander R, Simon S, Wolfe A, Breuer J, Hensley J,
            Fabia R, Hall M and Thakkar RK.
  TITLE     Early detection of soluble CD27, BTLA, and TIM-3 predicts the
            development of nosocomial infection in pediatric burn patients
  JOURNAL   Front Immunol 13, 940835 (2022)
   PUBMED   35958579
  REMARK    GeneRIF: Early detection of soluble CD27, BTLA, and TIM-3 predicts
            the development of nosocomial infection in pediatric burn patients.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 289)
  AUTHORS   Cheung TC, Humphreys IR, Potter KG, Norris PS, Shumway HM, Tran BR,
            Patterson G, Jean-Jacques R, Yoon M, Spear PG, Murphy KM, Lurain
            NS, Benedict CA and Ware CF.
  TITLE     Evolutionarily divergent herpesviruses modulate T cell activation
            by targeting the herpesvirus entry mediator cosignaling pathway
  JOURNAL   Proc Natl Acad Sci U S A 102 (37), 13218-13223 (2005)
   PUBMED   16131544
  REMARK    GeneRIF: distinct herpesviruses target the HVEM-BTLA cosignaling
            pathway, suggesting the importance of this pathway in regulating T
            cell activation during host defenses.
REFERENCE   7  (residues 1 to 289)
  AUTHORS   Gonzalez LC, Loyet KM, Calemine-Fenaux J, Chauhan V, Wranik B,
            Ouyang W and Eaton DL.
  TITLE     A coreceptor interaction between the CD28 and TNF receptor family
            members B and T lymphocyte attenuator and herpesvirus entry
            mediator
  JOURNAL   Proc Natl Acad Sci U S A 102 (4), 1116-1121 (2005)
   PUBMED   15647361
  REMARK    GeneRIF: Binding of HVEM to BTLA attenuates T cell activation,
            identifying HVEM/BTLA as a coinhibitory receptor pair.
REFERENCE   8  (residues 1 to 289)
  AUTHORS   Sedy JR, Gavrieli M, Potter KG, Hurchla MA, Lindsley RC, Hildner K,
            Scheu S, Pfeffer K, Ware CF, Murphy TL and Murphy KM.
  TITLE     B and T lymphocyte attenuator regulates T cell activation through
            interaction with herpesvirus entry mediator
  JOURNAL   Nat Immunol 6 (1), 90-98 (2005)
   PUBMED   15568026
  REMARK    GeneRIF: HVEM binds to B T lymphocyte attenuator (BTLA), an Ig
            family member, which inhibits T cell proliferation.
REFERENCE   9  (residues 1 to 289)
  AUTHORS   Gavrieli M, Watanabe N, Loftin SK, Murphy TL and Murphy KM.
  TITLE     Characterization of phosphotyrosine binding motifs in the
            cytoplasmic domain of B and T lymphocyte attenuator required for
            association with protein tyrosine phosphatases SHP-1 and SHP-2
  JOURNAL   Biochem Biophys Res Commun 312 (4), 1236-1243 (2003)
   PUBMED   14652006
REFERENCE   10 (residues 1 to 289)
  AUTHORS   Watanabe N, Gavrieli M, Sedy JR, Yang J, Fallarino F, Loftin SK,
            Hurchla MA, Zimmerman N, Sim J, Zang X, Murphy TL, Russell JH,
            Allison JP and Murphy KM.
  TITLE     BTLA is a lymphocyte inhibitory receptor with similarities to
            CTLA-4 and PD-1
  JOURNAL   Nat Immunol 4 (7), 670-679 (2003)
   PUBMED   12796776
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092894.6.
            On Nov 23, 2018 this sequence version replaced NP_861445.3.
            
            Summary: This gene encodes a member of the immunoglobulin
            superfamily. The encoded protein contains a single immunoglobulin
            (Ig) domain and is a receptor that relays inhibitory signals to
            suppress the immune response. Alternative splicing results in
            multiple transcript variants. Polymorphisms in this gene have been
            associated with an increased risk of rheumatoid arthritis.
            [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.147623.1,
                                           SRR1163658.109994.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2159764 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334529.10/ ENSP00000333919.5
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..289
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.2"
     Protein         1..289
                     /product="B- and T-lymphocyte attenuator isoform 1
                     precursor"
                     /note="B- and T-lymphocyte attenuator; B- and
                     T-lymphocyte-associated protein"
                     /calculated_mol_wt=29329
     sig_peptide     1..30
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q7Z6A9.3)"
                     /calculated_mol_wt=3523
     Region          34..134
                     /region_name="IgI_BTLA"
                     /note="Extracellular Immunoglobulin (Ig) domain of the B
                     and T lymphocyte attenuator (BTLA); member of the I-set Ig
                     superfamily domains; cd20928"
                     /db_xref="CDD:409522"
     Region          36..41
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409522"
     Region          45..49
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409522"
     Region          53..61
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409522"
     Site            order(60,67)
                     /site_type="active"
                     /note="L1 hypervariable region [active]"
                     /db_xref="CDD:409522"
     Site            order(67..68,70,118)
                     /site_type="other"
                     /note="antigen binding site [polypeptide binding]"
                     /db_xref="CDD:409522"
     Site            order(68,70,72,74,79,81,112,114,116,125..127)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:409522"
     Region          68..74
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409522"
     Site            75
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q7Z6A9.3)"
     Region          77..80
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409522"
     Region          86..92
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409522"
     Site            order(90,97)
                     /site_type="other"
                     /note="L2 hypervariable region"
                     /db_xref="CDD:409522"
     Site            94
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q7Z6A9.3)"
     Region          95..102
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409522"
     Site            110
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q7Z6A9.3)"
     Region          111..119
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409522"
     Site            order(118,124)
                     /site_type="active"
                     /note="L3 hypervariable region [active]"
                     /db_xref="CDD:409522"
     Region          121..134
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409522"
     Site            158..178
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6A9.3)"
     CDS             1..289
                     /gene="BTLA"
                     /gene_synonym="BTLA1; CD272"
                     /coded_by="NM_181780.4:115..984"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS33819.1"
                     /db_xref="GeneID:151888"
                     /db_xref="HGNC:HGNC:21087"
                     /db_xref="MIM:607925"
ORIGIN      
        1 mktlpamlgt gklfwvffli pyldiwnihg kescdvqlyi krqsehsila gdpfelecpv
       61 kycanrphvt wcklngttcv kledrqtswk eeknisffil hfepvlpndn gsyrcsanfq
      121 snlieshstt lyvtdvksas erpskdemas rpwllyrllp lgglpllitt cfclfcclrr
      181 hqgkqnelsd tagreinlvd ahlkseqtea strqnsqvll setgiydndp dlcfrmqegs
      241 evysnpclee nkpgivyasl nhsvigpnsr larnvkeapt eyasicvrs
//
LOCUS       NP_612561                 63 aa            linear   PRI 12-FEB-2023
DEFINITION  thymic stromal lymphopoietin isoform 2 [Homo sapiens].
ACCESSION   NP_612561
VERSION     NP_612561.2
DBSOURCE    REFSEQ: accession NM_138551.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 63)
  AUTHORS   Garcia-Garcia ML, Sastre B, Arroyas M, Beato M, Alonso P,
            Rodrigo-Munoz JM, Del Pozo V, Casas I and Calvo C.
  TITLE     Nasal TSLP and periostin in infants with severe bronchiolitis and
            risk of asthma at 4 years of age
  JOURNAL   Respir Res 24 (1), 26 (2023)
   PUBMED   36694181
  REMARK    GeneRIF: Nasal TSLP and periostin in infants with severe
            bronchiolitis and risk of asthma at 4 years of age.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 63)
  AUTHORS   Li W, Liao C, Du J, Hu J, Wang L, Song X, He Z, Xiao X and Ye L.
  TITLE     Increased expression of long-isoform thymic stromal lymphopoietin
            is associated with rheumatoid arthritis and fosters inflammatory
            responses
  JOURNAL   Front Immunol 13, 1079415 (2023)
   PUBMED   36726974
  REMARK    GeneRIF: Increased expression of long-isoform thymic stromal
            lymphopoietin is associated with rheumatoid arthritis and fosters
            inflammatory responses.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 63)
  AUTHORS   Bjerkan L, Schreurs O, Engen SA, Jahnsen FL, Baekkevold ES, Blix IJ
            and Schenck K.
  TITLE     The short form of TSLP is constitutively translated in human
            keratinocytes and has characteristics of an antimicrobial peptide
  JOURNAL   Mucosal Immunol 8 (1), 49-56 (2015)
   PUBMED   24850429
  REMARK    GeneRIF: The short protein isoform is expressed in keratinocytes of
            oral cavity, skin and salivary glands, and exhibits a markedly
            stronger antimicrobial activity compared to the longer isoform.
            TSLP displays antibacterial and antifungal activity against B.
            cereus, E. coli, E. faecalis, S. mitis, S. epidermidis, and C.
            albicans.
REFERENCE   4  (residues 1 to 63)
  AUTHORS   Fernandez MI, Heuze ML, Martinez-Cingolani C, Volpe E, Donnadieu
            MH, Piel M, Homey B, Lennon-Dumenil AM and Soumelis V.
  TITLE     The human cytokine TSLP triggers a cell-autonomous dendritic cell
            migration in confined environments
  JOURNAL   Blood 118 (14), 3862-3869 (2011)
   PUBMED   21772055
  REMARK    GeneRIF: TSLP induced the polarization of both microtubule and
            actin cytoskeletons and promoted dendritic cells 3-dimensional
            migration in transwell as well as in microfabricated channels that
            mimic the confined environment of peripheral tissues.
REFERENCE   5  (residues 1 to 63)
  AUTHORS   Ziegler SF and Artis D.
  TITLE     Sensing the outside world: TSLP regulates barrier immunity
  JOURNAL   Nat Immunol 11 (4), 289-293 (2010)
   PUBMED   20300138
  REMARK    Review article
REFERENCE   6  (residues 1 to 63)
  AUTHORS   He R and Geha RS.
  TITLE     Thymic stromal lymphopoietin
  JOURNAL   Ann N Y Acad Sci 1183, 13-24 (2010)
   PUBMED   20146705
  REMARK    GeneRIF: Roles of Thymic stromal lymphopoietin in immunity.
            Review article
REFERENCE   7  (residues 1 to 63)
  AUTHORS   Soumelis V, Reche PA, Kanzler H, Yuan W, Edward G, Homey B, Gilliet
            M, Ho S, Antonenko S, Lauerma A, Smith K, Gorman D, Zurawski S,
            Abrams J, Menon S, McClanahan T, de Waal-Malefyt Rd R, Bazan F,
            Kastelein RA and Liu YJ.
  TITLE     Human epithelial cells trigger dendritic cell mediated allergic
            inflammation by producing TSLP
  JOURNAL   Nat Immunol 3 (7), 673-680 (2002)
   PUBMED   12055625
  REMARK    GeneRIF: Epithelial cell-derived TSLP not only potently activates
            dendritic cells, but also endows DCs with the ability to polarize
            naive T cells to produce proallergic Th2 cytokines.
REFERENCE   8  (residues 1 to 63)
  AUTHORS   Quentmeier H, Drexler HG, Fleckenstein D, Zaborski M, Armstrong A,
            Sims JE and Lyman SD.
  TITLE     Cloning of human thymic stromal lymphopoietin (TSLP) and signaling
            mechanisms leading to proliferation
  JOURNAL   Leukemia 15 (8), 1286-1292 (2001)
   PUBMED   11480573
REFERENCE   9  (residues 1 to 63)
  AUTHORS   Reche PA, Soumelis V, Gorman DM, Clifford T, Liu Mr, Travis M,
            Zurawski SM, Johnston J, Liu YJ, Spits H, de Waal Malefyt R,
            Kastelein RA and Bazan JF.
  TITLE     Human thymic stromal lymphopoietin preferentially stimulates
            myeloid cells
  JOURNAL   J Immunol 167 (1), 336-343 (2001)
   PUBMED   11418668
  REMARK    GeneRIF: This protein is a hemopoietic cytokine that signals
            through a heterodimeric receptor complex consisting of the human
            TSLP receptor and the IL-7R alpha-chain.
REFERENCE   10 (residues 1 to 63)
  AUTHORS   Isaksen DE, Baumann H, Trobridge PA, Farr AG, Levin SD and Ziegler
            SF.
  TITLE     Requirement for stat5 in thymic stromal lymphopoietin-mediated
            signal transduction
  JOURNAL   J Immunol 163 (11), 5971-5977 (1999)
   PUBMED   10570284
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU571002.1, AL833421.1 and
            AC008572.6.
            On Jun 20, 2008 this sequence version replaced NP_612561.1.
            
            Summary: This gene encodes a hemopoietic cytokine proposed to
            signal through a heterodimeric receptor complex composed of the
            thymic stromal lymphopoietin receptor and the IL-7R alpha chain. It
            mainly impacts myeloid cells and induces the release of T
            cell-attracting chemokines from monocytes and enhances the
            maturation of CD11c(+) dendritic cells. The protein promotes T
            helper type 2 (TH2) cell responses that are associated with
            immunity in various inflammatory diseases, including asthma,
            allergic inflammation and chronic obstructive pulmonary disease.
            The protein is therefore considered a potential therapeutic target
            for the treatment of such diseases. In addition, the shorter
            (predominant) isoform is an antimicrobial protein, displaying
            antibacterial and antifungal activity against B. cereus, E. coli,
            E. faecalis, S. mitis, S. epidermidis, and C. albicans. Alternative
            splicing of this gene results in multiple transcript variants.
            [provided by RefSeq, Jul 2020].
            
            Transcript Variant: This variant (2, also known as sfTSLP) lacks
            two 5' exons but contains an alternate 5' exon, differs in the 5'
            UTR, and uses a downstream in-frame start codon, compared to
            variant 1. The encoded isoform (2) is shorter at the N-terminus,
            compared to isoform 1. This is the predominant isoform, and it
            exhibits a much stronger antimicrobial activity compared to the
            longer isoform lfTSLP (PMID:24850429).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL833421.1, SRR5189658.78255.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            Protein has antimicrobial activity :: PMID: 24850429
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..63
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.1"
     Protein         1..63
                     /product="thymic stromal lymphopoietin isoform 2"
                     /note="This protein has antimicrobial activity."
                     /calculated_mol_wt=7295
     Region          <1..57
                     /region_name="TSLP"
                     /note="Thymic stromal lymphopoietin; pfam15216"
                     /db_xref="CDD:434543"
     CDS             1..63
                     /gene="TSLP"
                     /coded_by="NM_138551.5:210..401"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:85480"
                     /db_xref="HGNC:HGNC:30743"
                     /db_xref="MIM:607003"
ORIGIN      
        1 mfamktkaal aiwcpgyset qinatqamkk rrkrkvttnk cleqvsqlqg lwrrfnrpll
       61 kqq
//
LOCUS       NP_061985               2146 aa            linear   PRI 12-FEB-2023
DEFINITION  phospholipid-transporting ATPase ABCA7 [Homo sapiens].
ACCESSION   NP_061985
VERSION     NP_061985.2
DBSOURCE    REFSEQ: accession NM_019112.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2146)
  AUTHORS   Le LTM, Thompson JR, Dehghani-Ghahnaviyeh S, Pant S, Dang PX,
            French JB, Kanikeyo T, Tajkhorshid E and Alam A.
  TITLE     Cryo-EM structures of human ABCA7 provide insights into its
            phospholipid translocation mechanisms
  JOURNAL   EMBO J 42 (3), e111065 (2023)
   PUBMED   36484366
  REMARK    GeneRIF: Cryo-EM structures of human ABCA7 provide insights into
            its phospholipid translocation mechanisms.
REFERENCE   2  (residues 1 to 2146)
  AUTHORS   Chaar DL, Nguyen K, Wang YZ, Ratliff SM, Mosley TH, Kardia SLR,
            Smith JA and Zhao W.
  TITLE     SNP-by-CpG Site Interactions in ABCA7 Are Associated with Cognition
            in Older African Americans
  JOURNAL   Genes (Basel) 13 (11), 2150 (2022)
   PUBMED   36421824
  REMARK    GeneRIF: SNP-by-CpG Site Interactions in ABCA7 Are Associated with
            Cognition in Older African Americans.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 2146)
  AUTHORS   Iqbal J, Suarez MD, Yadav PK, Walsh MT, Li Y, Wu Y, Huang Z, James
            AW, Escobar V, Mokbe A, Brickman AM, Luchsinger JA, Dai K, Moreno H
            and Hussain MM.
  TITLE     ATP-binding cassette protein ABCA7 deficiency impairs sphingomyelin
            synthesis, cognitive discrimination, and synaptic plasticity in the
            entorhinal cortex
  JOURNAL   J Biol Chem 298 (10), 102411 (2022)
   PUBMED   36007616
  REMARK    GeneRIF: ATP-binding cassette protein ABCA7 deficiency impairs
            sphingomyelin synthesis, cognitive discrimination, and synaptic
            plasticity in the entorhinal cortex.
REFERENCE   4  (residues 1 to 2146)
  AUTHORS   Yang Z, Xue L, Li C, Li M and Xie A.
  TITLE     Association between ABCA7 gene polymorphisms and Parkinson's
            disease susceptibility in a northern Chinese Han population
  JOURNAL   Neurosci Lett 784, 136734 (2022)
   PUBMED   35709878
  REMARK    GeneRIF: Association between ABCA7 gene polymorphisms and
            Parkinson's disease susceptibility in a northern Chinese Han
            population.
REFERENCE   5  (residues 1 to 2146)
  AUTHORS   Bossaerts L, Hendrickx Van de Craen E, Cacace R, Asselbergh B and
            Van Broeckhoven C.
  TITLE     Rare missense mutations in ABCA7 might increase Alzheimer's disease
            risk by plasma membrane exclusion
  JOURNAL   Acta Neuropathol Commun 10 (1), 43 (2022)
   PUBMED   35361255
  REMARK    GeneRIF: Rare missense mutations in ABCA7 might increase
            Alzheimer's disease risk by plasma membrane exclusion.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 2146)
  AUTHORS   Tanaka AR, Ikeda Y, Abe-Dohmae S, Arakawa R, Sadanami K, Kidera A,
            Nakagawa S, Nagase T, Aoki R, Kioka N, Amachi T, Yokoyama S and
            Ueda K.
  TITLE     Human ABCA1 contains a large amino-terminal extracellular domain
            homologous to an epitope of Sjogren's Syndrome
  JOURNAL   Biochem Biophys Res Commun 283 (5), 1019-1025 (2001)
   PUBMED   11355874
REFERENCE   7  (residues 1 to 2146)
  AUTHORS   Broccardo C, Osorio J, Luciani MF, Schriml LM, Prades C, Shulenin
            S, Arnould I, Naudin L, Lafargue C, Rosier M, Jordan B, Mattei MG,
            Dean M, Denefle P and Chimini G.
  TITLE     Comparative analysis of the promoter structure and genomic
            organization of the human and mouse ABCA7 gene encoding a novel
            ABCA transporter
  JOURNAL   Cytogenet Cell Genet 92 (3-4), 264-270 (2001)
   PUBMED   11435699
REFERENCE   8  (residues 1 to 2146)
  AUTHORS   Kaminski WE, Piehler A and Schmitz G.
  TITLE     Genomic organization of the human cholesterol-responsive ABC
            transporter ABCA7: tandem linkage with the minor histocompatibility
            antigen HA-1 gene
  JOURNAL   Biochem Biophys Res Commun 278 (3), 782-789 (2000)
   PUBMED   11095984
REFERENCE   9  (residues 1 to 2146)
  AUTHORS   Niwa M, Maruyama H, Fujimoto T, Dohi K and Maruyama IN.
  TITLE     Affinity selection of cDNA libraries by lambda phage surface
            display
  JOURNAL   Gene 256 (1-2), 229-236 (2000)
   PUBMED   11054552
REFERENCE   10 (residues 1 to 2146)
  AUTHORS   Kaminski WE, Orso E, Diederich W, Klucken J, Drobnik W and Schmitz
            G.
  TITLE     Identification of a novel human sterol-sensitive ATP-binding
            cassette transporter (ABCA7)
  JOURNAL   Biochem Biophys Res Commun 273 (2), 532-538 (2000)
   PUBMED   10873640
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC405492.1, AF250238.1,
            AF328787.1, CD629701.1, AK097344.1 and BU675136.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 3, 2007 this sequence version replaced NP_061985.1.
            
            Summary: The protein encoded by this gene is a member of the
            superfamily of ATP-binding cassette (ABC) transporters. ABC
            proteins transport various molecules across extra- and
            intra-cellular membranes. ABC genes are divided into seven distinct
            subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This
            protein is a member of the ABC1 subfamily. Members of the ABC1
            subfamily comprise the only major ABC subfamily found exclusively
            in multicellular eukaryotes. This full transporter has been
            detected predominantly in myelo-lymphatic tissues with the highest
            expression in peripheral leukocytes, thymus, spleen, and bone
            marrow. The function of this protein is not yet known; however, the
            expression pattern suggests a role in lipid homeostasis in cells of
            the immune system. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AF328787.1, AF250238.1 [ECO:0000331]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000263094.11/ ENSP00000263094.6
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, expression, longest
                                         protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2146
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..2146
                     /product="phospholipid-transporting ATPase ABCA7"
                     /EC_number="7.6.2.1"
                     /note="autoantigen SS-N; macrophage ABC transporter;
                     ATP-binding cassette sub-family A member 7; ATP-binding
                     cassette, sub-family A (ABC1), member 7"
                     /calculated_mol_wt=234220
     Region          1..2109
                     /region_name="rim_protein"
                     /note="retinal-specific rim ABC transporter; TIGR01257"
                     /db_xref="CDD:130324"
     Site            22..42
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            312
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            550..570
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            593..613
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            626..646
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            655..675
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            687..707
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            727..747
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            849..869
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Region          1048..1072
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Region          1185..1209
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            1243..1263
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            1538..1558
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            1584..1604
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            1621..1641
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            1649..1669
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            1683..1703
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Site            1729..1749
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     Region          2104..2146
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY2.3)"
     CDS             1..2146
                     /gene="ABCA7"
                     /gene_synonym="ABCA-SSN; ABCX; AD9"
                     /coded_by="NM_019112.4:228..6668"
                     /db_xref="CCDS:CCDS12055.1"
                     /db_xref="GeneID:10347"
                     /db_xref="HGNC:HGNC:37"
                     /db_xref="MIM:605414"
ORIGIN      
        1 mafwtqlmll lwknfmyrrr qpvqllvell wplflffilv avrhshpple hhechfpnkp
       61 lpsagtvpwl qglicnvnnt cfpqltpgee pgrlsnfnds lvsrlladar tvlggasahr
      121 tlaglgklia tlraarstaq pqptkqsple ppmldvaell tsllrteslg lalgqaqepl
      181 hslleaaedl aqellalrsl velrallqrp rgtsgplell sealcsvrgp sstvgpslnw
      241 yeasdlmelv gqepesalpd sslspacsel igaldshpls rllwrrlkpl ilgkllfapd
      301 tpftrklmaq vnrtfeeltl lrdvrevwem lgpriftfmn dssnvamlqr llqmqdegrr
      361 qprpggrdhm ealrsfldpg sggyswqdah advghlvgtl grvteclsld kleaapseaa
      421 lvsralqlla ehrfwagvvf lgpedssdpt ehptpdlgpg hvrikirmdi dvvtrtnkir
      481 drfwdpgpaa dpltdlryvw ggfvylqdlv eraavrvlsg anpraglylq qmpypcyvdd
      541 vflrvlsrsl plfltlawiy svtltvkavv reketrlrdt mramglsrav lwlgwflscl
      601 gpfllsaall vlvlklgdil pyshpgvvfl flaafavatv tqsfllsaff sranlaaacg
      661 glayfslylp yvlcvawrdr lpaggrvaas llspvafgfg ceslalleeq gegaqwhnvg
      721 trptadvfsl aqvsglllld aalyglatwy leavcpgqyg ipepwnfpfr rsywcgprpp
      781 kspapcptpl dpkvlveeap pglspgvsvr slekrfpgsp qpalrglsld fyqghitafl
      841 ghngagkttt lsilsglfpp sggsafilgh dvrssmaair phlgvcpqyn vlfdmltvde
      901 hvwfygrlkg lsaavvgpeq drllqdvglv skqsvqtrhl sggmqrklsv aiafvggsqv
      961 vildeptagv dpasrrgiwe lllkyregrt lilsthhlde aellgdrvav vaggrlcccg
     1021 splflrrhlg sgyyltlvka rlplttneka dtdmegsvdt rqekkngsqg srvgtpqlla
     1081 lvqhwvpgar lveelphelv lvlpytgahd gsfatlfrel dtrlaelrlt gygisdtsle
     1141 eiflkvveec aadtdmedgs cgqhlctgia gldvtlrlkm ppqetaleng epagsapetd
     1201 qgsgpdavgr vqgwaltrqq lqalllkrfl larrsrrglf aqivlpalfv glalvfsliv
     1261 ppfghypalr lsptmygaqv sffsedapgd pgrarlleal lqeagleepp vqhsshrfsa
     1321 pevpaevakv lasgnwtpes pspacqcsrp garrllpdcp aaaggppppq avtgsgevvq
     1381 nltgrnlsdf lvktyprlvr qglktkkwvn evryggfslg grdpglpsgq elgrsveelw
     1441 allsplpgga ldrvlknlta wahsldaqds lkiwfnnkgw hsmvafvnra snailrahlp
     1501 pgparhahsi ttlnhplnlt keqlsegalm assvdvlvsi cvvfamsfvp asftlvliee
     1561 rvtrakhlql mgglsptlyw lgnflwdmcn ylvpacivvl iflafqqray vapanlpall
     1621 lllllygwsi tplmypasff fsvpstayvv ltcinlfigi ngsmatfvle lfsdqklqev
     1681 srilkqvfli fphfclgrgl idmvrnqama daferlgdrq fqsplrwevv gknllamviq
     1741 gplfllftll lqhrsqllpq prvrslpllg eededvarer ervvqgatqg dvlvlrnltk
     1801 vyrgqrmpav drlclgippg ecfgllgvng agktstfrmv tgdtlasrge avlaghsvar
     1861 epsaahlsmg ycpqsdaife lltgrehlel larlrgvpea qvaqtagsgl arlglswyad
     1921 rpagtysggn krklatalal vgdpavvfld epttgmdpsa rrflwnslla vvregrsvml
     1981 tshsmeecea lcsrlaimvn grfrclgspq hlkgrfaagh tltlrvpaar sqpaaafvaa
     2041 efpgaelrea hggrlrfqlp pggrcalarv fgelavhgae hgvedfsvsq tmleevflyf
     2101 skdqgkdedt eeqkeagvgv dpapglqhpk rvsqflddps taetvl
//
LOCUS       NP_055565                846 aa            linear   PRI 19-FEB-2023
DEFINITION  disks large-associated protein 5 isoform a [Homo sapiens].
ACCESSION   NP_055565
VERSION     NP_055565.3
DBSOURCE    REFSEQ: accession NM_014750.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 846)
  AUTHORS   Chen R, Liu J, Hu J, Li C, Liu Y and Pan W.
  TITLE     DLGAP5 knockdown inactivates the Wnt/beta-catenin signal to repress
            endometrial cancer cell malignant activities
  JOURNAL   Environ Toxicol 38 (3), 685-693 (2023)
   PUBMED   36454672
  REMARK    GeneRIF: DLGAP5 knockdown inactivates the Wnt/beta-catenin signal
            to repress endometrial cancer cell malignant activities.
REFERENCE   2  (residues 1 to 846)
  AUTHORS   Tang X, Zhou H and Liu Y.
  TITLE     High Expression of DLGAP5 Indicates Poor Prognosis and
            Immunotherapy in Lung Adenocarcinoma and Promotes Proliferation
            through Regulation of the Cell Cycle
  JOURNAL   Dis Markers 2023, 9292536 (2023)
   PUBMED   36712920
  REMARK    GeneRIF: High Expression of DLGAP5 Indicates Poor Prognosis and
            Immunotherapy in Lung Adenocarcinoma and Promotes Proliferation
            through Regulation of the Cell Cycle.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 846)
  AUTHORS   Deng Y, Li H, Song Y, Cen J, Zhang Y, Sui Y, Cui D, Li TC, Xu Y,
            Wang CC, Chung PWJ and Tang T.
  TITLE     Whole Genome Transcriptomic Analysis of Ovary Granulosa Cells
            Revealed an Anti-Apoptosis Regulatory Gene DLGAP5 in Polycystic
            Ovary Syndrome
  JOURNAL   Front Endocrinol (Lausanne) 13, 781149 (2022)
   PUBMED   35370991
  REMARK    GeneRIF: Whole Genome Transcriptomic Analysis of Ovary Granulosa
            Cells Revealed an Anti-Apoptosis Regulatory Gene DLGAP5 in
            Polycystic Ovary Syndrome.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 846)
  AUTHORS   Gudmundsson KO, Thorsteinsson L, Sigurjonsson OE, Keller JR,
            Olafsson K, Egeland T, Gudmundsson S and Rafnar T.
  TITLE     Gene expression analysis of hematopoietic progenitor cells
            identifies Dlg7 as a potential stem cell gene
  JOURNAL   Stem Cells 25 (6), 1498-1506 (2007)
   PUBMED   17322106
  REMARK    GeneRIF: Dlg7 has a role in stem cell survival, in maintaining stem
            cell properties, and in carcinogenesis.
REFERENCE   5  (residues 1 to 846)
  AUTHORS   Wong J and Fang G.
  TITLE     HURP controls spindle dynamics to promote proper interkinetochore
            tension and efficient kinetochore capture
  JOURNAL   J Cell Biol 173 (6), 879-891 (2006)
   PUBMED   16769820
  REMARK    GeneRIF: HURP controls spindle stability and dynamics to achieve
            efficient kinetochore capture at prometaphase, timely chromosome
            congression to the metaphase plate, and proper interkinetochore
            tension for anaphase initiation.
REFERENCE   6  (residues 1 to 846)
  AUTHORS   Yu CT, Hsu JM, Lee YC, Tsou AP, Chou CK and Huang CY.
  TITLE     Phosphorylation and stabilization of HURP by Aurora-A: implication
            of HURP as a transforming target of Aurora-A
  JOURNAL   Mol Cell Biol 25 (14), 5789-5800 (2005)
   PUBMED   15987997
  REMARK    GeneRIF: HURP is a potential oncogenic target of Aurora-A.
REFERENCE   7  (residues 1 to 846)
  AUTHORS   Zhao L, Qin LX, Ye QH, Zhu XQ, Zhang H, Wu X, Chen J, Liu YK and
            Tang ZY.
  TITLE     KIAA0008 gene is associated with invasive phenotype of human
            hepatocellular carcinoma--a functional analysis
  JOURNAL   J Cancer Res Clin Oncol 130 (12), 719-727 (2004)
   PUBMED   15340842
  REMARK    GeneRIF: KIAA0008 expression is associated with invasiveness of
            HCC; overexpression of KIAA0008 leads to a more invasive phenotype
            of HCC cell lines.
REFERENCE   8  (residues 1 to 846)
  AUTHORS   Hsu JM, Lee YC, Yu CT and Huang CY.
  TITLE     Fbx7 functions in the SCF complex regulating Cdk1-cyclin
            B-phosphorylated hepatoma up-regulated protein (HURP) proteolysis
            by a proline-rich region
  JOURNAL   J Biol Chem 279 (31), 32592-32602 (2004)
   PUBMED   15145941
  REMARK    GeneRIF: Cdk1-cyclin B-phosphorylated hepatoma up-regulated protein
            (HURP) proteolysis is regulated by Fbx7 and the SCF complex
REFERENCE   9  (residues 1 to 846)
  AUTHORS   Tsou AP, Yang CW, Huang CY, Yu RC, Lee YC, Chang CW, Chen BR, Chung
            YF, Fann MJ, Chi CW, Chiu JH and Chou CK.
  TITLE     Identification of a novel cell cycle regulated gene, HURP,
            overexpressed in human hepatocellular carcinoma
  JOURNAL   Oncogene 22 (2), 298-307 (2003)
   PUBMED   12527899
  REMARK    GeneRIF: results strongly suggest that HURP is a potential novel
            cell cycle regulator that may play a role in the carcinogenesis of
            human cancer cells
REFERENCE   10 (residues 1 to 846)
  AUTHORS   Bassal S, Nomura N, Venter D, Brand K, McKay MJ and van der Spek
            PJ.
  TITLE     Characterization of a novel human cell-cycle-regulated homologue of
            Drosophila dlg1
  JOURNAL   Genomics 77 (1-2), 5-7 (2001)
   PUBMED   11543626
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB076695.1 and BC010658.1.
            On Apr 4, 2009 this sequence version replaced NP_055565.2.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC010658.1, AK291847.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000247191.7/ ENSP00000247191.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..846
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.3"
     Protein         1..846
                     /product="disks large-associated protein 5 isoform a"
                     /note="hepatoma up-regulated protein; disks
                     large-associated protein 5; DAP-5; disks large-associated
                     protein DLG7; discs, large homolog 7; discs large homolog
                     associated protein 5"
                     /calculated_mol_wt=94984
     Region          <24..>196
                     /region_name="PspC_subgroup_1"
                     /note="pneumococcal surface protein PspC, choline-binding
                     form; NF033838"
                     /db_xref="CDD:411407"
     Site            67
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:15145941,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Region          153..284
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15398.2)"
     Site            202
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            326
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            329
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CDK1.
                     /evidence=ECO:0000269|PubMed:15145941,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            338
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            401
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CDK1.
                     /evidence=ECO:0000269|PubMed:15145941; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            402
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CDK1.
                     /evidence=ECO:0000269|PubMed:15145941; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Region          <414..601
                     /region_name="GKAP"
                     /note="Guanylate-kinase-associated protein (GKAP) protein;
                     pfam03359"
                     /db_xref="CDD:427260"
     Site            618
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:15145941,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q15398.2)"
     Site            627
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by AURKA.
                     /evidence=ECO:0000269|PubMed:15987997,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Region          628..674
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15398.2)"
     Site            629
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            634
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            639
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CDK1.
                     /evidence=ECO:0000269|PubMed:15145941; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            642
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:15145941; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            662
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            725
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by AURKA.
                     /evidence=ECO:0000269|PubMed:15987997,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            757
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by AURKA.
                     /evidence=ECO:0000269|PubMed:15987997; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            759
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CDK1.
                     /evidence=ECO:0000269|PubMed:15145941; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            774
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            777
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            784
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            806
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q15398.2)"
     Site            812
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            830
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by AURKA.
                     /evidence=ECO:0000269|PubMed:15987997,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     Site            839
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:15145941,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q15398.2)"
     CDS             1..846
                     /gene="DLGAP5"
                     /gene_synonym="DLG7; HURP"
                     /coded_by="NM_014750.5:125..2665"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9723.1"
                     /db_xref="GeneID:9787"
                     /db_xref="HGNC:HGNC:16864"
                     /db_xref="MIM:617859"
ORIGIN      
        1 mssshfasrh rkdistemir tkiahrksls qkenrhkeye rnrhfglkdv niptlegril
       61 veldetsqgl vpektnvkpr amktilgdqr kqmlqkykee kqlqklkeqr ekakrgifkv
      121 gryrpdmpcf llsnqnavka epkkaipssv ritrskakdq meqtkidnes dvrairpgpr
      181 qtsekkvsdk ekkvvqpvmp tslrmtrsat qaakqvprtv ssttarkpvt raanenepeg
      241 kvpskgrpak nvetkpdkgi sckvdseent lnsqtnatsg mnpdgvlskm enlpeintak
      301 ikgknsfapk dfmfqpldgl ktyqvtpmtp rsanafltps ytwtplktev desqatkeil
      361 aqkcktystk tiqqdsnklp cplgpltvwh eehvlnknea ttknlnglpi kevpslerne
      421 griaqphhgv pyfrnilqse tekltshcfe wdrkleldip ddakdlirta vgqtrllmke
      481 rfkqfeglvd dceykrgike ttctdldgfw dmvsfqiedv ihkfnnlikl eesgwqvnnn
      541 mnhnmnknvf rkkvvsgias kpkqddagri aarnrlaaik namrerirqe ecaetavsvi
      601 pkevdkivfd agffrvespv klfsglsvss egpsqrlgtp ksvnkavsqs rnemgipqqt
      661 tspenagpqn tksehvkktl flsipesrss iedaqcpglp dlieenhvvn ktdlkvdcls
      721 sermslplla ggvaddintn kkegisdvve gmelnssits qdvlmsspek ntasqnsile
      781 egetkisqse lfdnksltte chlldspgln csnpftqler rhqeharhis fggnlitfsp
      841 lqpgef
//
LOCUS       NP_001157650             522 aa            linear   PRI 26-FEB-2023
DEFINITION  ectonucleoside triphosphate diphosphohydrolase 1 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001157650
VERSION     NP_001157650.1
DBSOURCE    REFSEQ: accession NM_001164178.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 522)
  AUTHORS   van den Bulk J, van der Ploeg M, Ijsselsteijn ME, Ruano D, van der
            Breggen R, Duhen R, Peeters KCMJ, Farina-Sarasqueta A, Verdegaal
            EME, van der Burg SH, Duhen T and de Miranda NFCC.
  TITLE     CD103 and CD39 coexpression identifies neoantigen-specific
            cytotoxic T cells in colorectal cancers with low mutation burden
  JOURNAL   J Immunother Cancer 11 (2) (2023)
   PUBMED   36792124
  REMARK    GeneRIF: CD103 and CD39 coexpression identifies neoantigen-specific
            cytotoxic T cells in colorectal cancers with low mutation burden.
REFERENCE   2  (residues 1 to 522)
  AUTHORS   Jiang X, Wu X, Xiao Y, Wang P, Zheng J, Wu X and Jin Z.
  TITLE     The ectonucleotidases CD39 and CD73 on T cells: The new pillar of
            hematological malignancy
  JOURNAL   Front Immunol 14, 1110325 (2023)
   PUBMED   36776866
  REMARK    GeneRIF: The ectonucleotidases CD39 and CD73 on T cells: The new
            pillar of hematological malignancy.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 522)
  AUTHORS   Novitskaya T, Nishat S, Covarrubias R, Wheeler DG, Chepurko E,
            Bermeo-Blanco O, Xu Z, Baer B, He H, Moore SN, Dwyer KM, Cowan PJ,
            Su YR, Absi TS, Schoenecker J, Bellan LM, Koch WJ, Bansal S,
            Feoktistov I, Robson SC, Gao E and Gumina RJ.
  TITLE     Ectonucleoside triphosphate diphosphohydrolase-1 (CD39) impacts
            TGF-beta1 responses: insights into cardiac fibrosis and function
            following myocardial infarction
  JOURNAL   Am J Physiol Heart Circ Physiol 323 (6), H1244-H1261 (2022)
   PUBMED   36240436
  REMARK    GeneRIF: Ectonucleoside triphosphate diphosphohydrolase-1 (CD39)
            impacts TGF-beta1 responses: insights into cardiac fibrosis and
            function following myocardial infarction.
REFERENCE   4  (residues 1 to 522)
  AUTHORS   Yousefzadeh Y, Soltani-Zangbar MS, Kalafi L, Tarbiat A,
            Shahmohammadi Farid S, Aghebati-Maleki L, Parhizkar F, Danaii S,
            Taghavi S, Jadidi-Niaragh F, Samadi Kafil H, Mahmoodpoor A,
            Ahmadian Heris J, Hojjat-Farsangi M and Yousefi M.
  TITLE     Evaluation of CD39, CD73, HIF-1alpha, and their related miRNAs
            expression in decidua of preeclampsia cases compared to healthy
            pregnant women
  JOURNAL   Mol Biol Rep 49 (11), 10183-10193 (2022)
   PUBMED   36048381
  REMARK    GeneRIF: Evaluation of CD39, CD73, HIF-1alpha, and their related
            miRNAs expression in decidua of preeclampsia cases compared to
            healthy pregnant women.
REFERENCE   5  (residues 1 to 522)
  AUTHORS   Globig AM, Mayer LS, Heeg M, Andrieux G, Ku M, Otto-Mora P, Hipp
            AV, Zoldan K, Pattekar A, Rana N, Schell C, Boerries M, Hofmann M,
            Neumann-Haefelin C, Kuellmer A, Schmidt A, Boettler T, Tomov V,
            Thimme R, Hasselblatt P and Bengsch B.
  TITLE     Exhaustion of CD39-Expressing CD8+ T Cells in Crohn's Disease Is
            Linked to Clinical Outcome
  JOURNAL   Gastroenterology 163 (4), 965-981 (2022)
   PUBMED   35738329
  REMARK    GeneRIF: Exhaustion of CD39-Expressing CD8(+) T Cells in Crohn's
            Disease Is Linked to Clinical Outcome.
REFERENCE   6  (residues 1 to 522)
  AUTHORS   Kaczmarek E, Koziak K, Sevigny J, Siegel JB, Anrather J, Beaudoin
            AR, Bach FH and Robson SC.
  TITLE     Identification and characterization of CD39/vascular ATP
            diphosphohydrolase
  JOURNAL   J Biol Chem 271 (51), 33116-33122 (1996)
   PUBMED   8955160
REFERENCE   7  (residues 1 to 522)
  AUTHORS   Wang TF and Guidotti G.
  TITLE     CD39 is an ecto-(Ca2+,Mg2+)-apyrase
  JOURNAL   J Biol Chem 271 (17), 9898-9901 (1996)
   PUBMED   8626624
REFERENCE   8  (residues 1 to 522)
  AUTHORS   Christoforidis S, Papamarcaki T, Galaris D, Kellner R and Tsolas O.
  TITLE     Purification and properties of human placental ATP
            diphosphohydrolase
  JOURNAL   Eur J Biochem 234 (1), 66-74 (1995)
   PUBMED   8529670
REFERENCE   9  (residues 1 to 522)
  AUTHORS   Maliszewski CR, Delespesse GJ, Schoenborn MA, Armitage RJ, Fanslow
            WC, Nakajima T, Baker E, Sutherland GR, Poindexter K, Birks C et
            al.
  TITLE     The CD39 lymphoid cell activation antigen. Molecular cloning and
            structural characterization
  JOURNAL   J Immunol 153 (8), 3574-3583 (1994)
   PUBMED   7930580
REFERENCE   10 (residues 1 to 522)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD652289.1, AK301459.1,
            AK304018.1 and AL365273.25.
            
            Summary: The protein encoded by this gene is a plasma membrane
            protein that hydrolyzes extracellular ATP and ADP to AMP.
            Inhibition of this protein's activity may confer anticancer
            benefits. Several transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Aug 2015].
            
            Transcript Variant: This variant (3) uses an alternate 5' exon that
            results in a distinct 5' UTR and causes translation initiation at
            an alternate start codon, compared to variant 1. The encoded
            isoform (3) has a longer and distinct N-terminus, compared to
            isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.194379.1,
                                           SRR1803613.59807.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..522
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.1"
     Protein         1..522
                     /product="ectonucleoside triphosphate diphosphohydrolase 1
                     isoform 3"
                     /EC_number="3.6.1.5"
                     /note="CD39 antigen; lymphoid cell activation antigen;
                     ecto-apyrase; ecto-ATPase 1; ecto-ATPDase 1; ecto-ATP
                     diphosphohydrolase 1"
                     /calculated_mol_wt=59194
     Region          52..483
                     /region_name="GDA1_CD39"
                     /note="GDA1/CD39 (nucleoside phosphatase) family;
                     pfam01150"
                     /db_xref="CDD:426082"
     Site            order(66..69,71,73,186,225..228)
                     /site_type="other"
                     /note="nucleotide binding site [chemical binding]"
                     /db_xref="CDD:212657"
     CDS             1..522
                     /gene="ENTPD1"
                     /gene_synonym="ATPDase; CD39; NTPDase-1; SPG64"
                     /coded_by="NM_001164178.1:64..1632"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS53556.1"
                     /db_xref="GeneID:953"
                     /db_xref="HGNC:HGNC:3363"
                     /db_xref="MIM:601752"
ORIGIN      
        1 mgreelfltf sfssgfqesn vktfcsknil ailgfssiia viallavglt qnkalpenvk
       61 ygivldagss htslyiykwp aekendtgvv hqveecrvkg pgiskfvqkv neigiyltdc
      121 merarevipr sqhqetpvyl gatagmrllr meseeladrv ldvverslsn ypfdfqgari
      181 itgqeegayg witinyllgk fsqktrwfsi vpyetnnqet fgaldlggas tqvtfvpqnq
      241 tiespdnalq frlygkdynv ythsflcygk dqalwqklak diqvasneil rdpcfhpgyk
      301 kvvnvsdlyk tpctkrfemt lpfqqfeiqg ignyqqchqs ilelfntsyc pysqcafngi
      361 flpplqgdfg afsafyfvmk flnltsekvs qekvtemmkk fcaqpweeik tsyagvkeky
      421 lseycfsgty ilslllqgyh ftadswehih figkiqgsda gwtlgymlnl tnmipaeqpl
      481 stplshstyv flmvlfslvl ftvaiiglli fhkpsyfwkd mv
//
LOCUS       NP_115939                814 aa            linear   PRI 26-FEB-2023
DEFINITION  actin filament-associated protein 1-like 2 isoform 2 [Homo
            sapiens].
ACCESSION   NP_115939
VERSION     NP_115939.1
DBSOURCE    REFSEQ: accession NM_032550.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 814)
  AUTHORS   Yang S, Wang B, Liao J, Hong Z, Zhong X, Chen S, Wu Z, Zhang X and
            Zuo Q.
  TITLE     Molecular mechanism of XB130 adaptor protein mediates trastuzumab
            resistance in gastric cancer
  JOURNAL   Clin Transl Oncol 25 (3), 685-695 (2023)
   PUBMED   36284062
  REMARK    GeneRIF: Molecular mechanism of XB130 adaptor protein mediates
            trastuzumab resistance in gastric cancer.
REFERENCE   2  (residues 1 to 814)
  AUTHORS   Poosekeaw P, Pairojkul C, Sripa B, Sa Ngiamwibool P, Iamsaard S,
            Sakonsinsiri C, Thanan R and Ungarreevittaya P.
  TITLE     Adaptor protein XB130 regulates the aggressiveness of
            cholangiocarcinoma
  JOURNAL   PLoS One 16 (11), e0259075 (2021)
   PUBMED   34780466
  REMARK    GeneRIF: Adaptor protein XB130 regulates the aggressiveness of
            cholangiocarcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 814)
  AUTHORS   Wang Q, Yang G, Jiang Y, Luo M, Li C, Zhao Y, Xie Y, Song K and
            Zhou J.
  TITLE     XB130, regulated by miR-203, miR-219, and miR-4782-3p, mediates the
            proliferation and metastasis of non-small-cell lung cancer cells
  JOURNAL   Mol Carcinog 59 (5), 557-568 (2020)
   PUBMED   32159887
  REMARK    GeneRIF: High XB130 expression is associated with proliferation and
            metastasis of non-small-cell lung cancer.
REFERENCE   4  (residues 1 to 814)
  AUTHORS   Xie T, Jiang C, Dai T, Xu R, Zhou X, Su X and Zhao X.
  TITLE     Knockdown of XB130 restrains cancer stem cell-like phenotype
            through inhibition of Wnt/beta-Catenin signaling in breast cancer
  JOURNAL   Mol Carcinog 58 (10), 1832-1845 (2019)
   PUBMED   31219645
  REMARK    GeneRIF: This study indicates that XB130 plays an important role in
            maintaining the epithelial-mesenchymal transition (EMT) and stem
            cell-like characteristics of breast cancer cells, supporting the
            significance of XB130 as a new potential therapeutic target for
            early diagnosis and prognosis of breast cancer.
REFERENCE   5  (residues 1 to 814)
  AUTHORS   Shen J, Jin C, Liu Y, Rao H, Liu J and Li J.
  TITLE     XB130 enhances invasion and migration of human colorectal cancer
            cells by promoting epithelial-mesenchymal transition
  JOURNAL   Mol Med Rep 16 (4), 5592-5598 (2017)
   PUBMED   28849225
  REMARK    GeneRIF: present study demonstrated that the expression of XB130 is
            elevated in CRC cells. Loss of XB130 was associated with decreased
            invasion and migration of CRC cells, possibly as a result of EMT
            inhibition.
REFERENCE   6  (residues 1 to 814)
  AUTHORS   Cirulli ET, Kasperaviciute D, Attix DK, Need AC, Ge D, Gibson G and
            Goldstein DB.
  TITLE     Common genetic variation and performance on standardized cognitive
            tests
  JOURNAL   Eur J Hum Genet 18 (7), 815-820 (2010)
   PUBMED   20125193
  REMARK    Erratum:[Eur J Hum Genet. 2010 Jul;18(7):820]
REFERENCE   7  (residues 1 to 814)
  AUTHORS   Xu J, Bai XH, Lodyga M, Han B, Xiao H, Keshavjee S, Hu J, Zhang H,
            Yang BB and Liu M.
  TITLE     XB130, a novel adaptor protein for signal transduction
  JOURNAL   J Biol Chem 282 (22), 16401-16412 (2007)
   PUBMED   17412687
REFERENCE   8  (residues 1 to 814)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe
            JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C,
            Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J,
            White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L,
            Morris JC, Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 814)
  AUTHORS   Zhang Y, Wolf-Yadlin A, Ross PL, Pappin DJ, Rush J, Lauffenburger
            DA and White FM.
  TITLE     Time-resolved mass spectrometry of tyrosine phosphorylation sites
            in the epidermal growth factor receptor signaling network reveals
            dynamic modules
  JOURNAL   Mol Cell Proteomics 4 (9), 1240-1250 (2005)
   PUBMED   15951569
REFERENCE   10 (residues 1 to 814)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD,
            Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird
            G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson
            T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan
            S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou
            T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore
            N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J,
            Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead
            SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T,
            Doucette-Stamm L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC024314.1, AC005383.2 and AB067501.1.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region and uses an alternate in-frame splice
            site in the 3' coding region, compared to variant 3. It encodes
            isoform 2, which is shorter than isoform 3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC024314.1, SRR14038193.2224526.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..814
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.3"
     Protein         1..814
                     /product="actin filament-associated protein 1-like 2
                     isoform 2"
                     /note="AFAP1-like protein 2; CTB-1144G6.6"
                     /calculated_mol_wt=90729
     Site            56
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q5DTU0; propagated from
                     UniProtKB/Swiss-Prot (Q8N4X5.1)"
     Region          66..163
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4X5.1)"
     Region          165..271
                     /region_name="PH1_AFAP"
                     /note="Actin filament associated protein family Pleckstrin
                     homology (PH) domain, repeat 1; cd13306"
                     /db_xref="CDD:270116"
     Region          353..453
                     /region_name="PH2_AFAP"
                     /note="Actin filament associated protein family Pleckstrin
                     homology (PH) domain, repeat 2; cd13307"
                     /db_xref="CDD:270117"
     Site            408
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5DTU0; propagated from
                     UniProtKB/Swiss-Prot (Q8N4X5.1)"
     Site            413
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q5DTU0; propagated from
                     UniProtKB/Swiss-Prot (Q8N4X5.1)"
     Site            484
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5DTU0; propagated from
                     UniProtKB/Swiss-Prot (Q8N4X5.1)"
     Region          513..532
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4X5.1)"
     Region          <682..>748
                     /region_name="PRK03918"
                     /note="DNA double-strand break repair ATPase Rad50"
                     /db_xref="CDD:235175"
     CDS             1..814
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /coded_by="NM_032550.4:48..2492"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS31287.1"
                     /db_xref="GeneID:84632"
                     /db_xref="HGNC:HGNC:25901"
                     /db_xref="MIM:612420"
ORIGIN      
        1 merykaleql ltelddflki ldqenlssta lvkksclael lrlytkssss deeyiymnkv
       61 tinkqqnaes qgkapeeqgl lpngepsqhs sapqkslpdl pppkmiperk qlaipktesp
      121 egyyeeaepy dtslnedgea vsssyesyde edgskgksap yqwpspeagi elmrdarica
      181 flwrkkwlgq wakqlcvikd nrllcykssk dhspqldvnl lgssvihkek qvrkkehklk
      241 itpmnadviv lglqskdqae qwlrviqevs glpsegaseg nqytpdaqrf ncqkpdiaek
      301 ylsaseygss vdghpevpet kdvkkkcsag lklsnlmnlg rkkstslepv ersletssyl
      361 nvlvnsqwks rwcsvrdnhl hfyqdrnrsk vaqqplslvg cevvpdpspd hlysfrilhk
      421 geelakleak sseemghwlg lllsesgskt dpeeftydyv dadrvscivs aaknslllmq
      481 rkfsepntyi dglpsqdrqe elyddvdlse ltaaveptee atpvaddpne resdrvyldl
      541 tpvksflhgp ssaqaqassp tlscldnate alpadsgpgp tpdepcikcp enlgeqqles
      601 lepedpslri ttvkiqteqq risfppscpd avvatppgas ppvkdrlrvt saeiklgknr
      661 teaevkryte ekerlekkke eirghlaqlr kekrelketl lkctdkevla sleqklkeid
      721 eecrgeesrr vdlelsimev kdnlkkaeag pvtlgttvdt thlenpkavt pasapdctpv
      781 nsattlknrp lsvvvtgkgt vlqkakewek kgas
//
LOCUS       NP_001153176             280 aa            linear   PRI 26-FEB-2023
DEFINITION  four and a half LIM domains protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001153176
VERSION     NP_001153176.1
DBSOURCE    REFSEQ: accession NM_001159704.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 280)
  AUTHORS   Zhang J, Li H, Guo M, Zhang J, Zhang G, Sun N, Feng Y, Cui W and Xu
            F.
  TITLE     FHL1 as a novel prognostic biomarker and correlation with immune
            infiltration levels in lung adenocarcinoma
  JOURNAL   Immunotherapy 15 (4), 235-252 (2023)
   PUBMED   36695131
  REMARK    GeneRIF: FHL1 as a novel prognostic biomarker and correlation with
            immune infiltration levels in lung adenocarcinoma.
REFERENCE   2  (residues 1 to 280)
  AUTHORS   Schoser B, Goebel HH, Janisch I, Quasthoff S, Rother J, Bergmann M,
            Muller-Felber W and Windpassinger C.
  TITLE     Consequences of mutations within the C terminus of the FHL1 gene
  JOURNAL   Neurology 73 (7), 543-551 (2009)
   PUBMED   19687455
  REMARK    GeneRIF: As a consequence of C terminal FHL1 gene mutations, the
            X-linked myopathy characterized by postural muscle atrophy (XMPMA)
            phenotype and morphotype with cytoplasmic bodies are found.
REFERENCE   3  (residues 1 to 280)
  AUTHORS   Ding L, Wang Z, Yan J, Yang X, Liu A, Qiu W, Zhu J, Han J, Zhang H,
            Lin J, Cheng L, Qin X, Niu C, Yuan B, Wang X, Zhu C, Zhou Y, Li J,
            Song H, Huang C and Ye Q.
  TITLE     Human four-and-a-half LIM family members suppress tumor cell growth
            through a TGF-beta-like signaling pathway
  JOURNAL   J Clin Invest 119 (2), 349-361 (2009)
   PUBMED   19139564
  REMARK    GeneRIF: Human four-and-a-half LIM family members suppress tumor
            cell growth through a TGF-beta-like signaling pathway.
REFERENCE   4  (residues 1 to 280)
  AUTHORS   Greene WK, Baker E, Rabbitts TH and Kees UR.
  TITLE     Genomic structure, tissue expression and chromosomal location of
            the LIM-only gene, SLIM1
  JOURNAL   Gene 232 (2), 203-207 (1999)
   PUBMED   10352231
REFERENCE   5  (residues 1 to 280)
  AUTHORS   Morgan MJ and Madgwick AJ.
  TITLE     The LIM proteins FHL1 and FHL3 are expressed differently in
            skeletal muscle
  JOURNAL   Biochem Biophys Res Commun 255 (2), 245-250 (1999)
   PUBMED   10049693
REFERENCE   6  (residues 1 to 280)
  AUTHORS   Lee SM, Tsui SK, Chan KK, Garcia-Barcelo M, Waye MM, Fung KP, Liew
            CC and Lee CY.
  TITLE     Chromosomal mapping, tissue distribution and cDNA sequence of
            four-and-a-half LIM domain protein 1 (FHL1)
  JOURNAL   Gene 216 (1), 163-170 (1998)
   PUBMED   9714789
REFERENCE   7  (residues 1 to 280)
  AUTHORS   Morgan MJ, Madgwick AJ, Charleston B, Pell JM and Loughna PT.
  TITLE     The developmental regulation of a novel muscle LIM-protein
  JOURNAL   Biochem Biophys Res Commun 212 (3), 840-846 (1995)
   PUBMED   7626119
REFERENCE   8  (residues 1 to 280)
  AUTHORS   Selcen,D. and Engel,A.G.
  TITLE     Myofibrillar Myopathy - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301672
REFERENCE   9  (residues 1 to 280)
  AUTHORS   Zhang,K., Astigarraga,I., Bryceson,Y., Lehmberg,K., Machowicz,R.,
            Marsh,R., Sieni,E., Wang,Z. and Nichols,K.E.
  TITLE     Familial Hemophagocytic Lymphohistiocytosis
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301617
REFERENCE   10 (residues 1 to 280)
  AUTHORS   Bonne,G., Leturcq,F. and Ben Yaou,R.
  TITLE     Emery-Dreifuss Muscular Dystrophy
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301609
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK122708.1, AL078638.9 and
            BM995585.1.
            
            Summary: This gene encodes a member of the four-and-a-half-LIM-only
            protein family. Family members contain two highly conserved,
            tandemly arranged, zinc finger domains with four highly conserved
            cysteines binding a zinc atom in each zinc finger. Expression of
            these family members occurs in a cell- and tissue-specific mode and
            these proteins are involved in many cellular processes. Mutations
            in this gene have been found in patients with Emery-Dreifuss
            muscular dystrophy. Multiple alternately spliced transcript
            variants which encode different protein isoforms have been
            described.[provided by RefSeq, Nov 2009].
            
            Transcript Variant: This variant (4) differs in the 5' UTR, 3' UTR,
            and 3' coding region compared to variant 1. The encoded protein
            (isoform 2) has a distinct C-terminus and is shorter than isoform
            1. Variants 2, 3, 4 and 9 encode the same protein (isoform 2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK122708.1, SRR1803613.86441.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..280
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     Protein         1..280
                     /product="four and a half LIM domains protein 1 isoform 2"
                     /note="LIM protein SLIMMER; four-and-a-half Lin11, Isl-1
                     and Mec-3 domains 1; skeletal muscle LIM-protein 1"
                     /calculated_mol_wt=31764
     Region          <5..33
                     /region_name="LIM"
                     /note="LIM is a small protein-protein interaction domain,
                     containing two zinc fingers; cl02475"
                     /db_xref="CDD:413332"
     Region          40..93
                     /region_name="LIM1_FHL1"
                     /note="The first LIM domain of Four and a half LIM domains
                     protein 1; cd09344"
                     /db_xref="CDD:188730"
     Site            order(40,43,62,65,68,71,89,92)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188730"
     Region          101..158
                     /region_name="LIM2_FHL1"
                     /note="The second LIM domain of Four and a half LIM
                     domains protein 1 (FHL1); cd09424"
                     /db_xref="CDD:188808"
     Site            order(101,104,123,126,129,132,150,153)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188808"
     Region          162..214
                     /region_name="LIM3_FHL1"
                     /note="The third LIM domain of Four and a half LIM domains
                     protein 1 (FHL1); cd09429"
                     /db_xref="CDD:188813"
     Site            order(162,165,182,185,188,191,209,212)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188813"
     Region          217..280
                     /region_name="LIM4_FHL1"
                     /note="The fourth LIM domain of Four and a half LIM
                     domains protein 1 (FHL1); cd09348"
                     /db_xref="CDD:188734"
     Site            order(221,224,246,249,252,255,273,276)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188734"
     CDS             1..280
                     /gene="FHL1"
                     /gene_synonym="FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; KYOT;
                     RBMX1A; RBMX1B; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA"
                     /coded_by="NM_001159704.1:712..1554"
                     /note="isoform 2 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS14655.1"
                     /db_xref="GeneID:2273"
                     /db_xref="HGNC:HGNC:3702"
                     /db_xref="MIM:300163"
ORIGIN      
        1 maekfdchyc rdplqgkkyv qkdghhcclk cfdkfcantc vecrkpigad skevhyknrf
       61 whdtcfrcak clhplanetf vakdnkilcn kcttredspk ckgcfkaiva gdqnveykgt
      121 vwhkdcftcs nckqvigtgs ffpkgedfyc vtchetkfak hcvkcnkait sggityqdqp
      181 whadcfvcvt cskklagqrf tavedqyycv dcyknfvakk cagcknpitg fgkgssvvay
      241 egqswhdycf hckkcsvnla nkrfvfhqeq vycpdcakkl
//
LOCUS       NP_001388                770 aa            linear   PRI 12-MAR-2023
DEFINITION  endothelin-converting enzyme 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001388
VERSION     NP_001388.1
DBSOURCE    REFSEQ: accession NM_001397.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 770)
  AUTHORS   Wang Y, Wang B, Zhou F, Lv K, Xu X and Cao W.
  TITLE     CircNDC80 promotes glioblastoma multiforme tumorigenesis via the
            miR-139-5p/ECE1 pathway
  JOURNAL   J Transl Med 21 (1), 22 (2023)
   PUBMED   36635757
  REMARK    GeneRIF: CircNDC80 promotes glioblastoma multiforme tumorigenesis
            via the miR-139-5p/ECE1 pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 770)
  AUTHORS   Salim E, Ramachandran V, Ansari N, Ismail P, Mohamed MH, Mohamad NA
            and Inche Mat LN.
  TITLE     Association of Endothelin-Converting Enzyme and Endothelin-1 Gene
            Polymorphisms with Essential Hypertension in Malay Ethnics
  JOURNAL   Genet Res (Camb) 2022, 9129960 (2022)
   PUBMED   35645613
  REMARK    GeneRIF: Association of Endothelin-Converting Enzyme and
            Endothelin-1 Gene Polymorphisms with Essential Hypertension in
            Malay Ethnics.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 770)
  AUTHORS   Engku Nasrullah Satiman EAF, Ahmad H, Ramzi AB, Abdul Wahab R,
            Kaderi MA, Wan Harun WHA, Dashper S, McCullough M and Arzmi MH.
  TITLE     The role of Candida albicans candidalysin ECE1 gene in oral
            carcinogenesis
  JOURNAL   J Oral Pathol Med 49 (9), 835-841 (2020)
   PUBMED   32170981
  REMARK    GeneRIF: The role of Candida albicans candidalysin ECE1 gene in
            oral carcinogenesis.
            Review article
REFERENCE   4  (residues 1 to 770)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 770)
  AUTHORS   McCormick A, Kristianto J, Wang X, McIntosh J, Cruz M, Hibbard JU
            and Blank RD.
  TITLE     Placental endothelin-converting enzyme-1 is decreased in
            preeclampsia
  JOURNAL   Pregnancy Hypertens 20, 108-110 (2020)
   PUBMED   32278308
  REMARK    GeneRIF: Placental endothelin-converting enzyme-1 is decreased in
            preeclampsia.
REFERENCE   6  (residues 1 to 770)
  AUTHORS   Yorimitsu K, Moroi K, Inagaki N, Saito T, Masuda Y, Masaki T, Seino
            S and Kimura S.
  TITLE     Cloning and sequencing of a human endothelin converting enzyme in
            renal adenocarcinoma (ACHN) cells producing endothelin-2
  JOURNAL   Biochem Biophys Res Commun 208 (2), 721-727 (1995)
   PUBMED   7695628
REFERENCE   7  (residues 1 to 770)
  AUTHORS   Shimada K, Matsushita Y, Wakabayashi K, Takahashi M, Matsubara A,
            Iijima Y and Tanzawa K.
  TITLE     Cloning and functional expression of human endothelin-converting
            enzyme cDNA
  JOURNAL   Biochem Biophys Res Commun 207 (2), 807-812 (1995)
   PUBMED   7864876
REFERENCE   8  (residues 1 to 770)
  AUTHORS   Schmidt M, Kroger B, Jacob E, Seulberger H, Subkowski T, Otter R,
            Meyer T, Schmalzing G and Hillen H.
  TITLE     Molecular characterization of human and bovine endothelin
            converting enzyme (ECE-1)
  JOURNAL   FEBS Lett 356 (2-3), 238-243 (1994)
   PUBMED   7805846
REFERENCE   9  (residues 1 to 770)
  AUTHORS   Xu D, Emoto N, Giaid A, Slaughter C, Kaw S, deWit D and Yanagisawa
            M.
  TITLE     ECE-1: a membrane-bound metalloprotease that catalyzes the
            proteolytic activation of big endothelin-1
  JOURNAL   Cell 78 (3), 473-485 (1994)
   PUBMED   8062389
REFERENCE   10 (residues 1 to 770)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301612
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC117256.1, Z35307.1,
            AL031005.2, BC106022.1 and BU733112.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is involved in
            proteolytic processing of endothelin precursors to biologically
            active peptides. Mutations in this gene are associated with
            Hirschsprung disease, cardiac defects and autonomic dysfunction.
            Alternatively spliced transcript variants encoding different
            isoforms have been noted for this gene.[provided by RefSeq, Sep
            2009].
            
            Transcript Variant: This variant (1) encodes the longest protein
            (isoform 1 also known as isoform b).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.258431.1,
                                           SRR1660809.141391.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374893.11/ ENSP00000364028.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..770
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     Protein         1..770
                     /product="endothelin-converting enzyme 1 isoform 1"
                     /EC_number="3.4.24.71"
                     /note="ECE-1"
                     /calculated_mol_wt=87033
     Site            25
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P42892.2)"
     Site            69..89
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P42892.2)"
     Region          119..768
                     /region_name="M13"
                     /note="Peptidase family M13 includes neprilysin and
                     endothelin-converting enzyme I; cd08662"
                     /db_xref="CDD:341056"
     Site            order(149,560,565..568,587,603..604,607..608,611,667,710,
                     713..714,731..732,738)
                     /site_type="active"
                     /db_xref="CDD:341056"
     Site            166
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P42892.2)"
     Site            187
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42892.2)"
     Site            210
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16263699,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19349973;
                     propagated from UniProtKB/Swiss-Prot (P42892.2)"
     Site            270
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P42892.2)"
     Site            316
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P42892.2)"
     Site            362
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P42892.2)"
     Site            383
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P42892.2)"
     Site            539
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42892.2)"
     Site            632
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42892.2)"
     Site            651
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42892.2)"
     CDS             1..770
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /coded_by="NM_001397.3:50..2362"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS215.1"
                     /db_xref="GeneID:1889"
                     /db_xref="HGNC:HGNC:3146"
                     /db_xref="MIM:600423"
ORIGIN      
        1 mrgvwpppvs allsalgmst ykratldeed lvdslsegda ypnglqvnfh sprsgqrcwa
       61 artqvekrlv vlvvllaagl vaclaalgiq yqtrspsvcl seacvsvtss ilssmdptvd
      121 pchdffsyac ggwikanpvp dghsrwgtfs nlwehnqaii khllenstas vseaerkaqv
      181 yyracmnetr ieelrakplm elierlggwn itgpwakdnf qdtlqvvtah yrtspffsvy
      241 vsadsknsns nviqvdqsgl glpsrdyyln ktenekvltg ylnymvqlgk llgggdeeai
      301 rpqmqqildf etalanitip qekrrdeeli yhkvtaaelq tlapainwlp flntifypve
      361 inesepivvy dkeyleqist linttdrcll nnymiwnlvr ktssfldqrf qdadekfmev
      421 mygtkktclp rwkfcvsdte nnlgfalgpm fvkatfaeds ksiateiile ikkafeesls
      481 tlkwmdeetr ksakekadai ynmigypnfi mdpkeldkvf ndytavpdly fenamrffnf
      541 swrvtadqlr kapnrdqwsm tppmvnayys ptkneivfpa gilqapfytr sspkalnfgg
      601 igvvvghelt hafddqgrey dkdgnlrpww knssveafkr qtecmveqys nysvngepvn
      661 grhtlgenia dngglkaayr ayqnwvkkng aehslptlgl tnnqlfflgf aqvwcsvrtp
      721 essheglitd phspsrfrvi gslsnskefs ehfrcppgsp mnpphkcevw
//
LOCUS       NP_071373                594 aa            linear   PRI 14-MAR-2023
DEFINITION  protein FAM200C [Homo sapiens].
ACCESSION   NP_071373 XP_371779
VERSION     NP_071373.2
DBSOURCE    REFSEQ: accession NM_022090.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 594)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 594)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 594)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam
            S, MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 594)
  AUTHORS   Hayward A, Ghazal A, Andersson G, Andersson L and Jern P.
  TITLE     ZBED evolution: repeated utilization of DNA transposons as
            regulators of diverse host functions
  JOURNAL   PLoS One 8 (3), e59940 (2013)
   PUBMED   23533661
REFERENCE   5  (residues 1 to 594)
  AUTHORS   Woodard LE, Li X, Malani N, Kaja A, Hice RH, Atkinson PW, Bushman
            FD, Craig NL and Wilson MH.
  TITLE     Comparative analysis of the recently discovered hAT transposon
            TcBuster in human cells
  JOURNAL   PLoS One 7 (11), e42666 (2012)
   PUBMED   23166581
REFERENCE   6  (residues 1 to 594)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   7  (residues 1 to 594)
  AUTHORS   Smit AF.
  TITLE     Interspersed repeats and other mementos of transposable elements in
            mammalian genomes
  JOURNAL   Curr Opin Genet Dev 9 (6), 657-663 (1999)
   PUBMED   10607616
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091842.3, BX487983.1, BC032603.1 and BM052679.1.
            On or before Jan 27, 2004 this sequence version replaced
            XP_371779.1, NP_071373.1.
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' UTR compared to variant 1. Variants 1 and 2 encode the same
            protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.766902.1,
                                           SRR1803617.248338.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000408953.4/ ENSP00000386184.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..594
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.3"
     Protein         1..594
                     /product="protein FAM200C"
                     /note="transposon-derived Buster3 transposase-like
                     protein; zinc finger BED domain-containing protein 8;
                     protein ZBED8; zinc finger BED-type containing 8"
                     /calculated_mol_wt=68196
     Region          <140..253
                     /region_name="DUF4371"
                     /note="Domain of unknown function (DUF4371); pfam14291"
                     /db_xref="CDD:405048"
     CDS             1..594
                     /gene="FAM200C"
                     /gene_synonym="Buster3; C5orf54; ZBED8"
                     /coded_by="NM_022090.5:466..2250"
                     /db_xref="CCDS:CCDS34283.1"
                     /db_xref="GeneID:63920"
                     /db_xref="HGNC:HGNC:30804"
                     /db_xref="MIM:615253"
ORIGIN      
        1 mskkrkwddd yvrywftctt evdgtqrpqc vlcnsvfsna dlrpsklsdh fnrqhggvag
       61 hdlnslkhmp apsdqsetlk afgvashedt llqasyqfay lcakeknpht vaeklvkpca
      121 leiaqivlgp daqkklqqvp lsddvihsri demsqdilqq vledikaspl kvgiqlaett
      181 dmddcsqlma fvryikerei veeflfcepl qlsmkgidvf nlfrdfflkh kialdvcgsv
      241 ctdgassmlg ensefvayvk keiphivvth cllnphalvi ktlptklrda lftvvrvinf
      301 ikgrapnhrl fqaffeeigi eysvllfhte mrwlsrgqil thifemyeei nqflhhkssn
      361 lvdgfenkef kihlayladl fkhlnelsas mqrtgmntvs areklsafvr kfpfwqkrie
      421 krnftnfpfl eeiivsdneg ifiaaeitlh lqqlsnffhg yfsigdlnea skwildpflf
      481 nidfvddsyl mkndlaelra sgqilmefet mkledfwcaq ftafpnlakt aleilmpfat
      541 tylcelgfss llhfktksrs cfnlsddirv aiskkvprfs diieqklqlq qksl
//
LOCUS       NP_002047                681 aa            linear   PRI 15-MAR-2023
DEFINITION  glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
            isoform 2 [Homo sapiens].
ACCESSION   NP_002047
VERSION     NP_002047.2
DBSOURCE    REFSEQ: accession NM_002056.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 681)
  AUTHORS   Li D, Guan M, Cao X, Zha ZQ, Zhang P, Xiang H, Zhou Y, Peng Q, Xu
            Z, Lu L and Liu G.
  TITLE     GFPT1 promotes the proliferation of cervical cancer via regulating
            the ubiquitination and degradation of PTEN
  JOURNAL   Carcinogenesis 43 (10), 969-979 (2022)
   PUBMED   36040914
  REMARK    GeneRIF: GFPT1 promotes the proliferation of cervical cancer via
            regulating the ubiquitination and degradation of PTEN.
REFERENCE   2  (residues 1 to 681)
  AUTHORS   Jiang K, Zheng Y, Lin J, Wu X, Yu Y, Zhu M, Fang X, Zhou M, Li X
            and Hong D.
  TITLE     Diverse myopathological features in the congenital myasthenia
            syndrome with GFPT1 mutation
  JOURNAL   Brain Behav 12 (2), e2469 (2022)
   PUBMED   34978387
  REMARK    GeneRIF: Diverse myopathological features in the congenital
            myasthenia syndrome with GFPT1 mutation.
REFERENCE   3  (residues 1 to 681)
  AUTHORS   Mensch A, Cordts I, Scholle L, Joshi PR, Kleeberg K, Emmer A,
            Beck-Woedl S, Park J, Haack TB, Stoltenburg-Didinger G, Zierz S and
            Deschauer M.
  TITLE     GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a
            Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology
            Solved by Next-Generation-Sequencing
  JOURNAL   J Neuromuscul Dis 9 (4), 533-541 (2022)
   PUBMED   35694932
  REMARK    GeneRIF: GFPT1-Associated Congenital Myasthenic Syndrome Mimicking
            a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology
            Solved by Next-Generation-Sequencing.
REFERENCE   4  (residues 1 to 681)
  AUTHORS   Nerlich AG, Sauer U, Kolm-Litty V, Wagner E, Koch M and Schleicher
            ED.
  TITLE     Expression of glutamine:fructose-6-phosphate amidotransferase in
            human tissues: evidence for high variability and distinct
            regulation in diabetes
  JOURNAL   Diabetes 47 (2), 170-178 (1998)
   PUBMED   9519709
REFERENCE   5  (residues 1 to 681)
  AUTHORS   Zhou J, Neidigh JL, Espinosa R 3rd, LeBeau MM and McClain DA.
  TITLE     Human glutamine: fructose-6-phosphate amidotransferase:
            characterization of mRNA and chromosomal assignment to 2p13
  JOURNAL   Hum Genet 96 (1), 99-101 (1995)
   PUBMED   7607664
REFERENCE   6  (residues 1 to 681)
  AUTHORS   Whitmore TE, Mudri SL and McKnight GL.
  TITLE     Physical mapping of the human glutamine:fructose-6-phosphate
            amidotransferase gene (GFPT) to chromosome 2p13
  JOURNAL   Genomics 26 (2), 422-423 (1995)
   PUBMED   7601477
REFERENCE   7  (residues 1 to 681)
  AUTHORS   Sayeski PP, Paterson AJ and Kudlow JE.
  TITLE     The murine glutamine:fructose-6-phosphate amidotransferase-encoding
            cDNA sequence
  JOURNAL   Gene 140 (2), 289-290 (1994)
   PUBMED   8144040
REFERENCE   8  (residues 1 to 681)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
REFERENCE   9  (residues 1 to 681)
  AUTHORS   McKnight GL, Mudri SL, Mathewes SL, Traxinger RR, Marshall S,
            Sheppard PO and O'Hara PJ.
  TITLE     Molecular cloning, cDNA sequence, and bacterial expression of human
            glutamine:fructose-6-phosphate amidotransferase
  JOURNAL   J Biol Chem 267 (35), 25208-25212 (1992)
   PUBMED   1460020
REFERENCE   10 (residues 1 to 681)
  AUTHORS   Traxinger RR and Marshall S.
  TITLE     Coordinated regulation of glutamine:fructose-6-phosphate
            amidotransferase activity by insulin, glucose, and glutamine. Role
            of hexosamine biosynthesis in enzyme regulation
  JOURNAL   J Biol Chem 266 (16), 10148-10154 (1991)
   PUBMED   2037571
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI560595.1, M90516.1 and
            AC114772.5.
            On Sep 19, 2008 this sequence version replaced NP_002047.1.
            
            Summary: This gene encodes the first and rate-limiting enzyme of
            the hexosamine pathway and controls the flux of glucose into the
            hexosamine pathway. The product of this gene catalyzes the
            formation of glucosamine 6-phosphate. [provided by RefSeq, Sep
            2008].
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            coding region, compared to variant 1. The resulting protein
            (isoform 2) is shorter when it is compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.738225.1,
                                           SRR11853565.16432.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..681
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     Protein         1..681
                     /product="glutamine--fructose-6-phosphate aminotransferase
                     [isomerizing] 1 isoform 2"
                     /EC_number="2.6.1.16"
                     /note="glucosamine--fructose-6-phosphate aminotransferase
                     [isomerizing] 1; hexosephosphate aminotransferase 1;
                     D-fructose-6-phosphate amidotransferase 1;
                     glutamine:fructose-6-phosphate amidotransferase 1;
                     glutamine--fructose-6-phosphate aminotransferase
                     [isomerizing] 1"
                     /calculated_mol_wt=76628
     Region          1..681
                     /region_name="PLN02981"
                     /note="glucosamine:fructose-6-phosphate aminotransferase"
                     /db_xref="CDD:215531"
     CDS             1..681
                     /gene="GFPT1"
                     /gene_synonym="CMS12; CMSTA1; GFA; GFAT; GFAT 1; GFAT1;
                     GFAT1m; GFPT; GFPT1L; MSLG"
                     /coded_by="NM_002056.4:157..2202"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS33216.1"
                     /db_xref="GeneID:2673"
                     /db_xref="HGNC:HGNC:4241"
                     /db_xref="MIM:138292"
ORIGIN      
        1 mcgifaylny hvprtrreil etlikglqrl eyrgydsagv gfdggndkdw eanackiqli
       61 kkkgkvkald eevhkqqdmd ldiefdvhlg iahtrwathg epspvnshpq rsdknnefiv
      121 ihngiitnyk dlkkfleskg ydfesetdte tiaklvkymy dnresqdtsf ttlverviqq
      181 legafalvfk svhfpgqavg trrgspllig vrsehklstd hipilyrtgk dkkgscnlsr
      241 vdsttclfpv eekaveyyfa sdasavieht nrvifleddd vaavvdgrls ihrikrtagd
      301 hpgravqtlq melqqimkgn fssfmqkeif eqpesvvntm rgrvnfddyt vnlgglkdhi
      361 keiqrcrrli liacgtsyha gvatrqvlee ltelpvmvel asdfldrntp vfrddvcffl
      421 sqsgetadtl mglryckerg altvgitntv gssisretdc gvhinagpei gvastkayts
      481 qfvslvmfal mmcddrismq errkeimlgl krlpdlikev lsmddeiqkl atelyhqksv
      541 limgrgyhya tclegalkik eitymhsegi lagelkhgpl alvdklmpvi miimrdhtya
      601 kcqnalqqvv arqgrpvvic dkedtetikn tkrtikvphs vdclqgilsv iplqllafhl
      661 avlrgydvdf prnlaksvtv e
//
LOCUS       NP_001353389             496 aa            linear   PRI 16-MAR-2023
DEFINITION  discoidin, CUB and LCCL domain-containing protein 1 isoform 4
            precursor [Homo sapiens].
ACCESSION   NP_001353389 XP_006715526
VERSION     NP_001353389.1
DBSOURCE    REFSEQ: accession NM_001366460.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 496)
  AUTHORS   Chongtham J, Pandey N, Sharma LK, Mohan A and Srivastava T.
  TITLE     SNP rs9387478 at ROS1-DCBLD1 Locus is Significantly Associated with
            Lung Cancer Risk and Poor Survival in Indian Population
  JOURNAL   Asian Pac J Cancer Prev 23 (10), 3553-3561 (2022)
   PUBMED   36308382
  REMARK    GeneRIF: SNP rs9387478 at ROS1-DCBLD1 Locus is Significantly
            Associated with Lung Cancer Risk and Poor Survival in Indian
            Population.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 496)
  AUTHORS   Cardin GB, Bernard M, Rodier F and Christopoulos A.
  TITLE     DCBLD1 is associated with the integrin signaling pathway and has
            prognostic value in non-small cell lung and invasive breast
            carcinoma
  JOURNAL   Sci Rep 11 (1), 12753 (2021)
   PUBMED   34140574
  REMARK    GeneRIF: DCBLD1 is associated with the integrin signaling pathway
            and has prognostic value in non-small cell lung and invasive breast
            carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 496)
  AUTHORS   Schmoker AM, Weinert JL, Markwood JM, Albretsen KS, Lunde ML, Weir
            ME, Ebert AM, Hinkle KL and Ballif BA.
  TITLE     FYN and ABL Regulate the Interaction Networks of the DCBLD Receptor
            Family
  JOURNAL   Mol Cell Proteomics 19 (10), 1586-1601 (2020)
   PUBMED   32606017
  REMARK    GeneRIF: FYN and ABL Regulate the Interaction Networks of the DCBLD
            Receptor Family.
REFERENCE   4  (residues 1 to 496)
  AUTHORS   Wang Y, Ma R, Liu B, Kong J, Lin H, Yu X, Wang R, Li L, Gao M, Zhou
            B, Mohan M, Yu H, Hou Z, Shen H and Qian B.
  TITLE     SNP rs17079281 decreases lung cancer risk through creating an
            YY1-binding site to suppress DCBLD1 expression
  JOURNAL   Oncogene 39 (20), 4092-4102 (2020)
   PUBMED   32231272
  REMARK    GeneRIF: SNP rs17079281 decreases lung cancer risk through creating
            an YY1-binding site to suppress DCBLD1 expression.
REFERENCE   5  (residues 1 to 496)
  AUTHORS   Schmoker AM, Ebert AM and Ballif BA.
  TITLE     The DCBLD receptor family: emerging signaling roles in development,
            homeostasis and disease
  JOURNAL   Biochem J 476 (6), 931-950 (2019)
   PUBMED   30902898
  REMARK    GeneRIF: The DCBLD receptor family: emerging signaling roles in
            development, homeostasis and disease.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 496)
  AUTHORS   Han JY, Lee YS, Shin ES, Hwang JA, Nam S, Hong SH, Ghang HY, Kim
            JY, Yoon SJ and Lee JS.
  TITLE     A genome-wide association study of survival in small-cell lung
            cancer patients treated with irinotecan plus cisplatin chemotherapy
  JOURNAL   Pharmacogenomics J 14 (1), 20-27 (2014)
   PUBMED   23478653
REFERENCE   7  (residues 1 to 496)
  AUTHORS   Peters U, Jiao S, Schumacher FR, Hutter CM, Aragaki AK, Baron JA,
            Berndt SI, Bezieau S, Brenner H, Butterbach K, Caan BJ, Campbell
            PT, Carlson CS, Casey G, Chan AT, Chang-Claude J, Chanock SJ, Chen
            LS, Coetzee GA, Coetzee SG, Conti DV, Curtis KR, Duggan D, Edwards
            T, Fuchs CS, Gallinger S, Giovannucci EL, Gogarten SM, Gruber SB,
            Haile RW, Harrison TA, Hayes RB, Henderson BE, Hoffmeister M,
            Hopper JL, Hudson TJ, Hunter DJ, Jackson RD, Jee SH, Jenkins MA,
            Jia WH, Kolonel LN, Kooperberg C, Kury S, Lacroix AZ, Laurie CC,
            Laurie CA, Le Marchand L, Lemire M, Levine D, Lindor NM, Liu Y, Ma
            J, Makar KW, Matsuo K, Newcomb PA, Potter JD, Prentice RL, Qu C,
            Rohan T, Rosse SA, Schoen RE, Seminara D, Shrubsole M, Shu XO,
            Slattery ML, Taverna D, Thibodeau SN, Ulrich CM, White E, Xiang Y,
            Zanke BW, Zeng YX, Zhang B, Zheng W and Hsu L.
  CONSRTM   Colon Cancer Family Registry and the Genetics and Epidemiology of
            Colorectal Cancer Consortium
  TITLE     Identification of Genetic Susceptibility Loci for Colorectal Tumors
            in a Genome-Wide Meta-analysis
  JOURNAL   Gastroenterology 144 (4), 799-807 (2013)
   PUBMED   23266556
  REMARK    Review article
REFERENCE   8  (residues 1 to 496)
  AUTHORS   Lan Q, Hsiung CA, Matsuo K, Hong YC, Seow A, Wang Z, Hosgood HD
            3rd, Chen K, Wang JC, Chatterjee N, Hu W, Wong MP, Zheng W,
            Caporaso N, Park JY, Chen CJ, Kim YH, Kim YT, Landi MT, Shen H,
            Lawrence C, Burdett L, Yeager M, Yuenger J, Jacobs KB, Chang IS,
            Mitsudomi T, Kim HN, Chang GC, Bassig BA, Tucker M, Wei F, Yin Z,
            Wu C, An SJ, Qian B, Lee VH, Lu D, Liu J, Jeon HS, Hsiao CF, Sung
            JS, Kim JH, Gao YT, Tsai YH, Jung YJ, Guo H, Hu Z, Hutchinson A,
            Wang WC, Klein R, Chung CC, Oh IJ, Chen KY, Berndt SI, He X, Wu W,
            Chang J, Zhang XC, Huang MS, Zheng H, Wang J, Zhao X, Li Y, Choi
            JE, Su WC, Park KH, Sung SW, Shu XO, Chen YM, Liu L, Kang CH, Hu L,
            Chen CH, Pao W, Kim YC, Yang TY, Xu J, Guan P, Tan W, Su J, Wang
            CL, Li H, Sihoe AD, Zhao Z, Chen Y, Choi YY, Hung JY, Kim JS, Yoon
            HI, Cai Q, Lin CC, Park IK, Xu P, Dong J, Kim C, He Q, Perng RP,
            Kohno T, Kweon SS, Chen CY, Vermeulen R, Wu J, Lim WY, Chen KC,
            Chow WH, Ji BT, Chan JK, Chu M, Li YJ, Yokota J, Li J, Chen H,
            Xiang YB, Yu CJ, Kunitoh H, Wu G, Jin L, Lo YL, Shiraishi K, Chen
            YH, Lin HC, Wu T, Wu YL, Yang PC, Zhou B, Shin MH, Fraumeni JF Jr,
            Lin D, Chanock SJ and Rothman N.
  TITLE     Genome-wide association analysis identifies new lung cancer
            susceptibility loci in never-smoking women in Asia
  JOURNAL   Nat Genet 44 (12), 1330-1335 (2012)
   PUBMED   23143601
REFERENCE   9  (residues 1 to 496)
  AUTHORS   Benjamin DJ, Cesarini D, van der Loos MJ, Dawes CT, Koellinger PD,
            Magnusson PK, Chabris CF, Conley D, Laibson D, Johannesson M and
            Visscher PM.
  TITLE     The genetic architecture of economic and political preferences
  JOURNAL   Proc Natl Acad Sci U S A 109 (21), 8026-8031 (2012)
   PUBMED   22566634
REFERENCE   10 (residues 1 to 496)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD,
            Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker
            DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP,
            Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY,
            Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman
            LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M,
            Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD,
            Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ,
            Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S,
            Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL,
            Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL,
            Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson
            CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK,
            Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR,
            Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M,
            Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A,
            Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K,
            Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore
            B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM,
            Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith
            M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G,
            Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A,
            Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL,
            Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt
            JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard
            T, Sulston JE, Dunham I, Rogers J and Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL132671.20 and Z85999.1.
            On Oct 5, 2018 this sequence version replaced XP_006715526.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1411650.1,
                                           SRR1803613.261368.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.1"
     Protein         1..496
                     /product="discoidin, CUB and LCCL domain-containing
                     protein 1 isoform 4 precursor"
                     /note="discoidin, CUB and LCCL domain-containing protein
                     1"
                     /calculated_mol_wt=51533
     sig_peptide     1..34
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3269
     Region          41..149
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(50,52,54,81,86,120,144,146,148..149)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Site            64
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N8Z6.2)"
     Site            124
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N8Z6.2)"
     Region          156..238
                     /region_name="LCCL"
                     /note="LCCL domain; cl02694"
                     /db_xref="CDD:445888"
     Region          260..411
                     /region_name="FA58C"
                     /note="Coagulation factor 5/8 C-terminal domain, discoidin
                     domain; Cell surface-attached carbohydrate-binding domain,
                     present in eukaryotes and assumed to have horizontally
                     transferred to eubacterial genomes; cd00057"
                     /db_xref="CDD:238014"
     Site            277
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N8Z6.2)"
     Region          278..312
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Z6.2)"
     Site            order(300,332,339)
                     /site_type="other"
                     /note="sugar binding site [chemical binding]"
                     /db_xref="CDD:238014"
     Site            351
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N8Z6.2)"
     Site            418
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N8Z6.2)"
     CDS             1..496
                     /gene="DCBLD1"
                     /gene_synonym="dJ94G16.1"
                     /coded_by="NM_001366460.2:109..1599"
                     /note="isoform 4 precursor is encoded by transcript
                     variant 4"
                     /db_xref="GeneID:285761"
                     /db_xref="HGNC:HGNC:21479"
ORIGIN      
        1 mvpgarggga laraagrgll alllavsapl rlqaeelgdg cghlvtyqds gtmtsknypg
       61 typnhtvcek titvpkgkrl ilrlgdldie sqtcasdyll ftsssdqygp ycgsmtvpke
      121 lllntsevtv rfesgshisg rgflltyass dhpdlitcle rashylktey skfcpagcrd
      181 vagdisgnmv dgyrdtsllc kaaihagiia delggqisvl qrkgisryeg ilangvlsrd
      241 gslsdkrflf tsngcsrsls fepdgqiras sswqsvnesg dqvhwspgqa rlqdqgpswa
      301 sgdssnnhkp rewleidlge kkkitgirtt gstqsnfnfy vksfvmnfkn nnskwktykg
      361 ivnneekvfq gnsnfrdpvq nnfippivar yvrvvpqtwh qrialkveli gcqitqgnds
      421 lvwrktsqst svstkkedet itrpipseet stgrrrkevr mdqqrlrkqt vgsrlniplp
      481 disqlslpsa mimrrr
//
LOCUS       NP_057056                133 aa            linear   PRI 17-MAR-2023
DEFINITION  DNA-directed RNA polymerases I and III subunit RPAC2 isoform 1
            [Homo sapiens].
ACCESSION   NP_057056
VERSION     NP_057056.1
DBSOURCE    REFSEQ: accession NM_015972.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 133)
  AUTHORS   Palumbo RJ, Belkevich AE, Pascual HG and Knutson BA.
  TITLE     A clinically-relevant residue of POLR1D is required for Drosophila
            development
  JOURNAL   Dev Dyn 251 (11), 1780-1797 (2022)
   PUBMED   35656583
  REMARK    GeneRIF: A clinically-relevant residue of POLR1D is required for
            Drosophila development.
REFERENCE   2  (residues 1 to 133)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 133)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 133)
  AUTHORS   Zhou Q, Perakis SO, Ulz P, Mohan S, Riedl JM, Talakic E, Lax S,
            Totsch M, Hoefler G, Bauernhofer T, Pichler M, Gerger A, Geigl JB,
            Heitzer E and Speicher MR.
  TITLE     Cell-free DNA analysis reveals POLR1D-mediated resistance to
            bevacizumab in colorectal cancer
  JOURNAL   Genome Med 12 (1), 20 (2020)
   PUBMED   32087735
  REMARK    GeneRIF: Cell-free DNA analysis reveals POLR1D-mediated resistance
            to bevacizumab in colorectal cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 133)
  AUTHORS   Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A,
            Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier
            C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U,
            Dixon MJ, Breuning MH and Wieczorek D.
  TITLE     Mutations in genes encoding subunits of RNA polymerases I and III
            cause Treacher Collins syndrome
  JOURNAL   Nat Genet 43 (1), 20-22 (2011)
   PUBMED   21131976
  REMARK    GeneRIF: heterozygous mutations of POLR1D in 252 individuals with
            Treacher Collins syndrome
REFERENCE   6  (residues 1 to 133)
  AUTHORS   Hirschler-Laszkiewicz I, Cavanaugh AH, Mirza A, Lun M, Hu Q, Smink
            T and Rothblum LI.
  TITLE     Rrn3 becomes inactivated in the process of ribosomal DNA
            transcription
  JOURNAL   J Biol Chem 278 (21), 18953-18959 (2003)
   PUBMED   12646563
REFERENCE   7  (residues 1 to 133)
  AUTHORS   Dundr M, Hoffmann-Rohrer U, Hu Q, Grummt I, Rothblum LI, Phair RD
            and Misteli T.
  TITLE     A kinetic framework for a mammalian RNA polymerase in vivo
  JOURNAL   Science 298 (5598), 1623-1626 (2002)
   PUBMED   12446911
  REMARK    GeneRIF: analyzed the kinetics of assembly and elongation of the
            RNA polymerase I complex on endogenous ribosomal genes in the
            nuclei of living cells with the use of in vivo microscopy
REFERENCE   8  (residues 1 to 133)
  AUTHORS   Hu P, Wu S, Sun Y, Yuan CC, Kobayashi R, Myers MP and Hernandez N.
  TITLE     Characterization of human RNA polymerase III identifies orthologues
            for Saccharomyces cerevisiae RNA polymerase III subunits
  JOURNAL   Mol Cell Biol 22 (22), 8044-8055 (2002)
   PUBMED   12391170
REFERENCE   9  (residues 1 to 133)
  AUTHORS   Yao Y, Yamamoto K, Nishi Y, Nogi Y and Muramatsu M.
  TITLE     Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa
            subunit is a homolog of yeast AC19 subunit of RNA polymerases I and
            III
  JOURNAL   J Biol Chem 271 (51), 32881-32885 (1996)
   PUBMED   8955128
  REMARK    GeneRIF: Characterization of the homologous mouse protein.
REFERENCE   10 (residues 1 to 133)
  AUTHORS   Katsanis,S.H. and Jabs,E.W.
  TITLE     Treacher Collins Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301704
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC000889.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a component of the RNA
            polymerase I and RNA polymerase III complexes, which function in
            the synthesis of ribosomal RNA precursors and small RNAs,
            respectively. Mutations in this gene are a cause of Treacher
            Collins syndrome (TCS), a craniofacial development disorder.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Apr 2011].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript but encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF077044.1, SRR1163655.684133.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302979.5/ ENSP00000302478.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..133
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.2"
     Protein         1..133
                     /product="DNA-directed RNA polymerases I and III subunit
                     RPAC2 isoform 1"
                     /note="DNA-directed RNA polymerases I and III subunit
                     RPAC2; RNA polymerase I subunit D; RNA polymerases I and
                     III subunit AC2; polymerase (RNA) I polypeptide D, 16kDa;
                     DNA-directed RNA polymerase I subunit D; polymerase (RNA)
                     I subunit D; Protein POLR1D"
                     /calculated_mol_wt=15106
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.4,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P0DPB6.1)"
     Region          30..114
                     /region_name="RNAP_I_III_AC19"
                     /note="AC19 subunit of Eukaryotic RNA polymerase (RNAP) I
                     and RNAP III; cd07029"
                     /db_xref="CDD:132907"
     Site            order(44,49..51,53,58,72,100..101,106..108,110..112)
                     /site_type="other"
                     /note="AC19 - AC40 heterodimer interface [polypeptide
                     binding]"
                     /db_xref="CDD:132907"
     Site            order(49,74..75)
                     /site_type="other"
                     /note="AC19 - A135(C128) interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:132907"
     Site            order(56,67,69..71,73..75)
                     /site_type="other"
                     /note="AC19 - A190(C160) interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:132907"
     Site            66
                     /site_type="other"
                     /note="AC19 - RPB8 interaction site [polypeptide binding]"
                     /db_xref="CDD:132907"
     CDS             1..133
                     /gene="POLR1D"
                     /gene_synonym="AC19; POLR1C; RPA16; RPA9; RPAC2; RPC16;
                     RPO1-3; TCS2"
                     /coded_by="NM_015972.4:93..494"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9325.1"
                     /db_xref="GeneID:51082"
                     /db_xref="HGNC:HGNC:20422"
                     /db_xref="MIM:613715"
ORIGIN      
        1 meedqelerk isglktsmae gerktalemv qaagtdrhcv tfvlheedht lgnslrymim
       61 knpevefcgy ttthpseski nlriqtrgtl pavepfqrgl nelmnvcqhv ldkfeasikd
      121 ykdqkasrne stf
//
LOCUS       NP_001371714             995 aa            linear   PRI 19-MAR-2023
DEFINITION  microtubule-associated protein 4 isoform 116 [Homo sapiens].
ACCESSION   NP_001371714
VERSION     NP_001371714.1
DBSOURCE    REFSEQ: accession NM_001384785.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 995)
  AUTHORS   Wang L, Paudyal SC, Kang Y, Owa M, Liang FX, Spektor A, Knaut H,
            Sanchez I and Dynlacht BD.
  TITLE     Regulators of tubulin polyglutamylation control nuclear shape and
            cilium disassembly by balancing microtubule and actin assembly
  JOURNAL   Cell Res 32 (2), 190-209 (2022)
   PUBMED   34782749
REFERENCE   2  (residues 1 to 995)
  AUTHORS   Thapa N, Chen M, Horn HT, Choi S, Wen T and Anderson RA.
  TITLE     Phosphatidylinositol-3-OH kinase signalling is spatially organized
            at endosomal compartments by microtubule-associated protein 4
  JOURNAL   Nat Cell Biol 22 (11), 1357-1370 (2020)
   PUBMED   33139939
  REMARK    GeneRIF: Phosphatidylinositol-3-OH kinase signalling is spatially
            organized at endosomal compartments by microtubule-associated
            protein 4.
REFERENCE   3  (residues 1 to 995)
  AUTHORS   Guo Y, Zhang X, Xu Q, Gong F, Shi X, Li C, Huang R, Nie F, Zhu W,
            Li J, Tang J, Li R, Zhang L, Chen L and Ma RZ.
  TITLE     Human Papillomavirus 16 oncoprotein E7 retards mitotic progression
            by blocking Mps1-MAP4 signaling cascade
  JOURNAL   Oncogene 38 (31), 5959-5970 (2019)
   PUBMED   31253867
  REMARK    GeneRIF: study reveals a molecular mechanism by which HPV16E7
            perturbs host mitotic progression by interfering Mps1-MAP4
            signaling cascade, which results in an extended infection window
            and may facilitate the persistent HPV16 infection
REFERENCE   4  (residues 1 to 995)
  AUTHORS   Zhang S, Deen S, Storr SJ, Yao A and Martin SG.
  TITLE     Expression of Syk and MAP4 proteins in ovarian cancer
  JOURNAL   J Cancer Res Clin Oncol 145 (4), 909-919 (2019)
   PUBMED   30737623
  REMARK    GeneRIF: Results suggest that Syk, MAP4, and calpain-1 expression
            are correlated with each other and these proteins may be involved
            in early stages of tumour spread.
REFERENCE   5  (residues 1 to 995)
  AUTHORS   Shigematsu H, Imasaki T, Doki C, Sumi T, Aoki M, Uchikubo-Kamo T,
            Sakamoto A, Tokuraku K, Shirouzu M and Nitta R.
  TITLE     Structural insight into microtubule stabilization and kinesin
            inhibition by Tau family MAPs
  JOURNAL   J Cell Biol 217 (12), 4155-4163 (2018)
   PUBMED   30275105
  REMARK    GeneRIF: The strongest bond of MAP4 was found around the
            intertubulin-dimer interface such that MAP4 coexists on the
            microtubule with kinesin-1 bound to the intratubulin-dimer
            interface as well.
REFERENCE   6  (residues 1 to 995)
  AUTHORS   Ookata K, Hisanaga S, Bulinski JC, Murofushi H, Aizawa H, Itoh TJ,
            Hotani H, Okumura E, Tachibana K and Kishimoto T.
  TITLE     Cyclin B interaction with microtubule-associated protein 4 (MAP4)
            targets p34cdc2 kinase to microtubules and is a potential regulator
            of M-phase microtubule dynamics
  JOURNAL   J Cell Biol 128 (5), 849-862 (1995)
   PUBMED   7876309
REFERENCE   7  (residues 1 to 995)
  AUTHORS   Chapin SJ, Lue CM, Yu MT and Bulinski JC.
  TITLE     Differential expression of alternatively spliced forms of MAP4: a
            repertoire of structurally different microtubule-binding domains
  JOURNAL   Biochemistry 34 (7), 2289-2301 (1995)
   PUBMED   7857940
REFERENCE   8  (residues 1 to 995)
  AUTHORS   Chapin SJ and Bulinski JC.
  TITLE     Microtubule stabilization by assembly-promoting
            microtubule-associated proteins: a repeat performance
  JOURNAL   Cell Motil Cytoskeleton 23 (4), 236-243 (1992)
   PUBMED   1477887
  REMARK    Review article
REFERENCE   9  (residues 1 to 995)
  AUTHORS   West RR, Tenbarge KM and Olmsted JB.
  TITLE     A model for microtubule-associated protein 4 structure. Domains
            defined by comparisons of human, mouse, and bovine sequences
  JOURNAL   J Biol Chem 266 (32), 21886-21896 (1991)
   PUBMED   1718985
REFERENCE   10 (residues 1 to 995)
  AUTHORS   Chapin SJ and Bulinski JC.
  TITLE     Non-neuronal 210 x 10(3) Mr microtubule-associated protein (MAP4)
            contains a domain homologous to the microtubule-binding domains of
            neuronal MAP2 and tau
  JOURNAL   J Cell Sci 98 (Pt 1), 27-36 (1991)
   PUBMED   1905296
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124916.3 and AC139667.5.
            
            Summary: The protein encoded by this gene is a major non-neuronal
            microtubule-associated protein. This protein contains a domain
            similar to the microtubule-binding domains of neuronal
            microtubule-associated protein (MAP2) and microtubule-associated
            protein tau (MAPT/TAU). This protein promotes microtubule assembly,
            and has been shown to counteract destabilization of interphase
            microtubule catastrophe promotion. Cyclin B was found to interact
            with this protein, which targets cell division cycle 2 (CDC2)
            kinase to microtubules. The phosphorylation of this protein affects
            microtubule properties and cell cycle progression. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Aug 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..995
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..995
                     /product="microtubule-associated protein 4 isoform 116"
                     /note="MAP-4"
                     /calculated_mol_wt=104856
     Region          <665..980
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          867..896
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          898..928
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     CDS             1..995
                     /gene="MAP4"
                     /coded_by="NM_001384785.1:96..3083"
                     /note="isoform 116 is encoded by transcript variant 46"
                     /db_xref="GeneID:4134"
                     /db_xref="HGNC:HGNC:6862"
                     /db_xref="MIM:157132"
ORIGIN      
        1 madlsladal tepspdiege ikrdfiatle aeafddvvge tvgktdyipl ldvdektgns
       61 eskkkpcset sqiedtpssk ptllangghg vegsdttgsp tefleekmay qeypnsqnwp
      121 edtnfcfqpe qvvdpiqtdp fkmyhdddla dlvfpssata dtsifagqnd plkdsygmsp
      181 cntavvpqgw svealnsphs esfvspeava eppqptavpl elakeiemas eerppaqale
      241 immglkttdm apsketemal akdmalatkt evalakdmes ptkldvtlak dmqpsmesdm
      301 alvkdmelpt ekevalvkdv rwptetdvss aknvvlptet evapakdvtl lketeraspi
      361 kmdlapskdm gppkenkket eraspikmdl apskdmgppk enkivpakdl vllseievaq
      421 andiisstei ssaekvalss etevalardm tlppetnvil tkdkalplea evapvkdmaq
      481 lpeteiapak dvapstvkev gllkdmspls etemalgkdv tpppetevvl iknvclppem
      541 evaltedqvp alkteaplak dgvltlannv tpakdvppls eteatpvpik dmeiaqtqkg
      601 isedshlesl qdvgqsaapt fmispetvtg tgkkcslpae edsvleklge rkpcnsqpse
      661 lssetsgiar peegrpvvsg tgndittppn kelppspekk tkpiadakap ekraspskpa
      721 sapasrsgsk stqtvakttt aaavastgps srspstllpk kptaiktegk paevkkmtak
      781 svpadlsrpk ststssmkkt ttlsgtapaa gvvpsrvkat pmpsrpsttp fidkkptsak
      841 pssttprlsr latntsapdl knvrskvqiq nkkvdiskvs skcgskanik hkpgggdvki
      901 esqklnfkek aqakvgsldn vghlpaggav ktegggseap lcpgppagee paiseaapea
      961 gaptsasgln ghptlsgggd qreaqtldsq iqetn
//
LOCUS       NP_001177921             549 aa            linear   PRI 19-MAR-2023
DEFINITION  acetyl-coenzyme A transporter 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001177921
VERSION     NP_001177921.1
DBSOURCE    REFSEQ: accession NM_001190992.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 549)
  AUTHORS   Dieterich IA, Cui Y, Braun MM, Lawton AJ, Robinson NH, Peotter JL,
            Yu Q, Casler JC, Glick BS, Audhya A, Denu JM, Li L and Puglielli L.
  TITLE     Acetyl-CoA flux from the cytosol to the ER regulates engagement and
            quality of the secretory pathway
  JOURNAL   Sci Rep 11 (1), 2013 (2021)
   PUBMED   33479349
  REMARK    GeneRIF: Acetyl-CoA flux from the cytosol to the ER regulates
            engagement and quality of the secretory pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 549)
  AUTHORS   Romero R, Sanchez-Rivera FJ, Westcott PMK, Mercer KL, Bhutkar A,
            Muir A, Gonzalez Robles TJ, Lamboy Rodriguez S, Liao LZ, Ng SR, Li
            L, Colon CI, Naranjo S, Beytagh MC, Lewis CA, Hsu PP, Bronson RT,
            Vander Heiden MG and Jacks T.
  TITLE     Keap1 mutation renders lung adenocarcinomas dependent on Slc33a1
  JOURNAL   Nat Cancer 1 (6), 589-602 (2020)
   PUBMED   34414377
  REMARK    GeneRIF: Keap1 mutation renders lung adenocarcinomas dependent on
            Slc33a1.
            Erratum:[Nat Cancer. 2020 Sep;1(9):935. PMID: 35121957]
REFERENCE   3  (residues 1 to 549)
  AUTHORS   Hullinger R, Li M, Wang J, Peng Y, Dowell JA, Bomba-Warczak E,
            Mitchell HA, Burger C, Chapman ER, Denu JM, Li L and Puglielli L.
  TITLE     Increased expression of AT-1/SLC33A1 causes an autistic-like
            phenotype in mice by affecting dendritic branching and spine
            formation
  JOURNAL   J Exp Med 213 (7), 1267-1284 (2016)
   PUBMED   27242167
  REMARK    GeneRIF: results indicate that increased expression of AT-1 can
            cause an autistic-like phenotype by affecting key neuronal
            metabolic pathways.
REFERENCE   4  (residues 1 to 549)
  AUTHORS   Mao F, Li Z, Zhao B, Lin P, Liu P, Zhai M, Liu Q, Shao C, Sun W and
            Gong Y.
  TITLE     Identification and functional analysis of a SLC33A1: c.339T>G
            (p.Ser113Arg) variant in the original SPG42 family
  JOURNAL   Hum Mutat 36 (2), 240-249 (2015)
   PUBMED   25402622
  REMARK    GeneRIF: SLC33A1 can negatively regulate BMP signaling.
REFERENCE   5  (residues 1 to 549)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   6  (residues 1 to 549)
  AUTHORS   Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao
            G, Yan C, Yang W, Shao C and Gong Y.
  TITLE     A missense mutation in SLC33A1, which encodes the acetyl-CoA
            transporter, causes autosomal-dominant spastic paraplegia (SPG42)
  JOURNAL   Am J Hum Genet 83 (6), 752-759 (2008)
   PUBMED   19061983
  REMARK    GeneRIF: A missense mutation in SLC33A1 causes autosomal-dominant
            spastic paraplegia.
REFERENCE   7  (residues 1 to 549)
  AUTHORS   Hirabayashi Y, Kanamori A, Nomura KH and Nomura K.
  TITLE     The acetyl-CoA transporter family SLC33
  JOURNAL   Pflugers Arch 447 (5), 760-762 (2004)
   PUBMED   12739170
  REMARK    Review article
REFERENCE   8  (residues 1 to 549)
  AUTHORS   Kanamori A, Nakayama J, Fukuda MN, Stallcup WB, Sasaki K, Fukuda M
            and Hirabayashi Y.
  TITLE     Expression cloning and characterization of a cDNA encoding a novel
            membrane protein required for the formation of O-acetylated
            ganglioside: a putative acetyl-CoA transporter
  JOURNAL   Proc Natl Acad Sci U S A 94 (7), 2897-2902 (1997)
   PUBMED   9096318
REFERENCE   9  (residues 1 to 549)
  AUTHORS   Bindu,P.S., Chiplunkar,S., Vandana,V.P., Nagappa,M., Govindaraj,P.
            and Taly,A.
  TITLE     Huppke-Brendel Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31194315
REFERENCE   10 (residues 1 to 549)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104472.14 and BC014416.1.
            
            Summary: The protein encoded by this gene is required for the
            formation of O-acetylated (Ac) gangliosides. The encoded protein is
            predicted to contain 6 to 10 transmembrane domains, and a leucine
            zipper motif in transmembrane domain III. Defects in this gene have
            been reported to cause spastic paraplegia autosomal dominant type
            42 (SPG42) in one Chinese family, but not in similar patients of
            European descent. Two transcript variants encoding the same protein
            have been found for this gene. [provided by RefSeq, Jul 2010].
            
            Transcript Variant: This variant (2) differs in the 3' UTR compared
            to variant 1. Variants 1 and 2 both encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC014416.1, SRR14038193.3809706.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..549
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.31"
     Protein         1..549
                     /product="acetyl-coenzyme A transporter 1 isoform 1"
                     /note="acetyl-coenzyme A transporter 1; solute carrier
                     family 33 (acetyl-CoA transporter), member 1"
                     /calculated_mol_wt=60778
     Region          1..46
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00400.1)"
     Site            22
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00400.1)"
     Site            42
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q99J27; propagated from
                     UniProtKB/Swiss-Prot (O00400.1)"
     Site            75..95
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00400.1)"
     Region          86..458
                     /region_name="2A0125"
                     /note="AmpG-like permease; TIGR00901"
                     /db_xref="CDD:273329"
     Site            103
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O00400.1)"
     Site            114..134
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00400.1)"
     Site            142..162
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00400.1)"
     Site            176..196
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00400.1)"
     Site            218..238
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00400.1)"
     Site            257..277
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00400.1)"
     Site            300..320
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00400.1)"
     Site            344..364
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00400.1)"
     Site            379..398
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00400.1)"
     Site            405..425
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00400.1)"
     Site            509..529
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00400.1)"
     CDS             1..549
                     /gene="SLC33A1"
                     /gene_synonym="ACATN; AT-1; AT1; CCHLND; SPG42"
                     /coded_by="NM_001190992.2:431..2080"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS3173.1"
                     /db_xref="GeneID:9197"
                     /db_xref="HGNC:HGNC:95"
                     /db_xref="MIM:603690"
ORIGIN      
        1 msptishkds srqrrpgnfs hsldmksgpl ppggwddshl dsagregdre allgdtgtgd
       61 flkapqsfra elssillllf lyvlqgiplg lagsiplilq sknvsytdqa ffsfvfwpfs
      121 lkllwaplvd avyvknfgrr kswlvptqyi lglfmiylst qvdrllgntd drtpdvialt
      181 vafflfefla atqdiavdgw altmlsrenv gyastcnsvg qtagyflgnv lflalesadf
      241 cnkylrfqpq prgivtlsdf lffwgtvfli tttlvallkk enevsvvkee tqgitdtykl
      301 lfaiikmpav ltfcllilta kigfsaadav tglklveegv pkehlallav pmvplqiilp
      361 liiskytagp qplntfykam pyrlllgley allvwwtpkv ehqggfpiyy yivvllsyal
      421 hqvtvysmyv simafnakvs dpliggtymt llntvsnlgg nwpstvalwl vdpltvkecv
      481 gasnqncrtp davelckklg gscvtaldgy yvesiicvfi gfgwwfflgp kfkklqdegs
      541 sswkckrnn
//
LOCUS       NP_004251               1208 aa            linear   PRI 19-MAR-2023
DEFINITION  ATP-dependent DNA helicase Q4 isoform 1 [Homo sapiens].
ACCESSION   NP_004251
VERSION     NP_004251.4
DBSOURCE    REFSEQ: accession NM_004260.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1208)
  AUTHORS   Martin-Giacalone BA, Rideau TT, Scheurer ME, Lupo PJ and Wang LL.
  TITLE     Cancer risk among RECQL4 heterozygotes
  JOURNAL   Cancer Genet 262-263, 107-110 (2022)
   PUBMED   35219053
  REMARK    GeneRIF: Cancer risk among RECQL4 heterozygotes.
REFERENCE   2  (residues 1 to 1208)
  AUTHORS   Huang Q, Qin D, Pei D, Vermeulen M and Zhang X.
  TITLE     UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous
            recombination-mediated DNA repair
  JOURNAL   FASEB J 36 (1), e22112 (2022)
   PUBMED   34921745
  REMARK    GeneRIF: UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and
            homologous recombination-mediated DNA repair.
REFERENCE   3  (residues 1 to 1208)
  AUTHORS   Jewell BE, Xu A, Zhu D, Huang MF, Lu L, Liu M, Underwood EL, Park
            JH, Fan H, Gingold JA, Zhou R, Tu J, Huo Z, Liu Y, Jin W, Chen YH,
            Xu Y, Chen SH, Rainusso N, Berg NK, Bazer DA, Vellano C, Jones P,
            Eltzschig HK, Zhao Z, Kaipparettu BA, Zhao R, Wang LL and Lee DF.
  TITLE     Patient-derived iPSCs link elevated mitochondrial respiratory
            complex I function to osteosarcoma in Rothmund-Thomson syndrome
  JOURNAL   PLoS Genet 17 (12), e1009971 (2021)
   PUBMED   34965247
  REMARK    GeneRIF: Patient-derived iPSCs link elevated mitochondrial
            respiratory complex I function to osteosarcoma in Rothmund-Thomson
            syndrome.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1208)
  AUTHORS   Luong TT and Bernstein KA.
  TITLE     Role and Regulation of the RECQL4 Family during Genomic Integrity
            Maintenance
  JOURNAL   Genes (Basel) 12 (12), 1919 (2021)
   PUBMED   34946868
  REMARK    GeneRIF: Role and Regulation of the RECQL4 Family during Genomic
            Integrity Maintenance.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1208)
  AUTHORS   Kitao S, Lindor NM, Shiratori M, Furuichi Y and Shimamoto A.
  TITLE     Rothmund-thomson syndrome responsible gene, RECQL4: genomic
            structure and products
  JOURNAL   Genomics 61 (3), 268-276 (1999)
   PUBMED   10552928
REFERENCE   6  (residues 1 to 1208)
  AUTHORS   Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM and
            Furuichi Y.
  TITLE     Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson
            syndrome
  JOURNAL   Nat Genet 22 (1), 82-84 (1999)
   PUBMED   10319867
REFERENCE   7  (residues 1 to 1208)
  AUTHORS   Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y and Shimamoto A.
  TITLE     Cloning of two new human helicase genes of the RecQ family:
            biological significance of multiple species in higher eukaryotes
  JOURNAL   Genomics 54 (3), 443-452 (1998)
   PUBMED   9878247
REFERENCE   8  (residues 1 to 1208)
  AUTHORS   Wang,L.L. and Plon,S.E.
  TITLE     Rothmund-Thomson Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301415
REFERENCE   9  (residues 1 to 1208)
  AUTHORS   Van Maldergem,L., Piard,J., Larizza,L. and Wang,L.L.
  TITLE     Baller-Gerold Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301383
REFERENCE   10 (residues 1 to 1208)
  AUTHORS   Soukup,T.
  TITLE     Intrafusal fibre types in rat limb muscle spindles: morphological
            and histochemical characteristics
  JOURNAL   Histochemistry 47 (1), 43-57 (1976)
   PUBMED   133085
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC084125.9 and KF495717.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 30, 2019 this sequence version replaced NP_004251.3.
            
            Summary: The protein encoded by this gene is a DNA helicase that
            belongs to the RecQ helicase family. DNA helicases unwind
            double-stranded DNA into single-stranded DNAs and may modulate
            chromosome segregation. This gene is predominantly expressed in
            thymus and testis. Mutations in this gene are associated with
            Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided
            by RefSeq, Jan 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB006532.1, SRR18074969.3616689.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000617875.6/ ENSP00000482313.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1208
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..1208
                     /product="ATP-dependent DNA helicase Q4 isoform 1"
                     /EC_number="3.6.4.12"
                     /note="ATP-dependent DNA helicase Q4; DNA helicase,
                     RecQ-like, type 4; RecQ protein-like 4; RecQ helicase-like
                     4"
                     /calculated_mol_wt=132937
     Region          2..50
                     /region_name="RecQL4_SLD2_NTD"
                     /note="N-terminal homeodomain-like domain of metazoan RecQ
                     protein-like 4 (RecQL4), fungal DNA replication regulator
                     SLD2 and similar proteins; cd22289"
                     /db_xref="CDD:412085"
     Region          17..180
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94761.2)"
     Site            27
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94761.2)"
     Site            178
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94761.2)"
     Site            180
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94761.2)"
     Region          201..333
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94761.2)"
     Region          470..667
                     /region_name="DEXHc_RecQ4-like"
                     /note="DEAH-box helicase domain of RecQ4 and similar
                     proteins; cd18018"
                     /db_xref="CDD:350776"
     Site            order(478,480..482,485,504..510,605..606,642)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350776"
     Site            order(532..534,554..555,580,582..583,613,617..618)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:350776"
     Region          605..608
                     /region_name="DEAH box"
                     /note="propagated from UniProtKB/Swiss-Prot (O94761.2)"
     Region          673..817
                     /region_name="SF2_C_RecQ"
                     /note="C-terminal helicase domain of the RecQ family
                     helicases; cd18794"
                     /db_xref="CDD:350181"
     Site            order(708..711,746,771..773,776,793)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:350181"
     Site            807
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350181"
     Region          860..888
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94761.2)"
     Region          1111..1130
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94761.2)"
     CDS             1..1208
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /coded_by="NM_004260.4:50..3676"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS75804.1"
                     /db_xref="GeneID:9401"
                     /db_xref="HGNC:HGNC:9949"
                     /db_xref="MIM:603780"
ORIGIN      
        1 merlrdvrer lqawerafrr qrgrrpsqdd veaapeetra lyreyrtlkr ttgqaggglr
       61 sseslpaaae eapeprcwgp hlnraatksp qstpgrsrqg svpdygqrlk anlkgtlqag
      121 palgrrpwpl grasskastp kppgtgpvps faekvsdepp qlpepqprpg rlqhlqasls
      181 qrlgsldpgw lqrchsevpd flgapkacrp dlgseesqll ipgesavlgp gagsqgpeas
      241 afqevsirvg spqpsssgge krrwneepwe spaqvqqess qagppsegag avaveedppg
      301 epvqaqppqp csspsnpryh glspssqara gkaegtaplh ifprlarhdr gnyvrlnmkq
      361 khyvrgralr srllrkqawk qkwrkkgecf ggggatvttk escflneqfd hwaaqcprpa
      421 seedtdavgp eplvpspqpv pevpsldptv lplyslgpsg qlaetpaevf qaleqlghqa
      481 frpgqeravm rilsgistll vlptgagksl cyqlpallys rrspcltlvv spllslmddq
      541 vsglppclka acihsgmtrk qresvlqkir aaqvhvlmlt pealvgaggl ppaaqlppva
      601 facideahcl sqwshnfrpc ylrvckvlre rmgvhcflgl tatatrrtas dvaqhlavae
      661 epdlhgpapv ptnlhlsvsm drdtdqallt llqgkrfqnl dsiiiycnrr edteriaall
      721 rtclhaawvp gsggrapktt aeayhagmcs rerrrvqraf mqgqlrvvva tvafgmgldr
      781 pdvravlhlg lppsfesyvq avgragrdgq pahchlflqp qgedlrelrr hvhadstdfl
      841 avkrlvqrvf pactctctrp pseqegavgg erpvpkyppq eaeqlshqaa pgprrvcmgh
      901 eralpiqltv qaldmpeeai etllcylelh phhwlellat tythcrlncp ggpaqlqala
      961 hrcpplavcl aqqlpedpgq gsssvefdmv klvdsmgwel asvrralcql qwdheprtgv
     1021 rrgtgvlvef selafhlrsp gdltaeekdq icdflygrvq arerqalarl rrtfqafhsv
     1081 afpscgpcle qqdeerstrl kdllgryfee eegqepggme daqgpepgqa rlqdwedqvr
     1141 cdirqflslr peekfssrav arifhgigsp cypaqvygqd rrfwrkylhl sfhalvglat
     1201 eellqvar
//
LOCUS       NP_006671                604 aa            linear   PRI 19-MAR-2023
DEFINITION  NADP-dependent malic enzyme, mitochondrial isoform 1 [Homo
            sapiens].
ACCESSION   NP_006671
VERSION     NP_006671.2
DBSOURCE    REFSEQ: accession NM_006680.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 604)
  AUTHORS   Lee D, Zhang MS, Tsang FH, Bao MH, Xu IM, Lai RK, Chiu DK, Tse AP,
            Law CT, Chan CY, Yuen VW, Chui NN, Ng IO, Wong CM and Wong CC.
  TITLE     Adaptive and Constitutive Activations of Malic Enzymes Confer Liver
            Cancer Multilayered Protection Against Reactive Oxygen Species
  JOURNAL   Hepatology 74 (2), 776-796 (2021)
   PUBMED   33619771
  REMARK    GeneRIF: Adaptive and Constitutive Activations of Malic Enzymes
            Confer Liver Cancer Multilayered Protection Against Reactive Oxygen
            Species.
REFERENCE   2  (residues 1 to 604)
  AUTHORS   Zhang Q, Li J, Tan XP and Zhao Q.
  TITLE     Effects of ME3 on the proliferation, invasion and metastasis of
            pancreatic cancer cells through epithelial-mesenchymal transition
  JOURNAL   Neoplasma 66 (6), 896-907 (2019)
   PUBMED   31607129
  REMARK    GeneRIF: ME3 is extensively involved in carcinogenesis of
            pancreatic cancer
REFERENCE   3  (residues 1 to 604)
  AUTHORS   Low SK, Chung S, Takahashi A, Zembutsu H, Mushiroda T, Kubo M and
            Nakamura Y.
  TITLE     Genome-wide association study of chemotherapeutic agent-induced
            severe neutropenia/leucopenia for patients in Biobank Japan
  JOURNAL   Cancer Sci 104 (8), 1074-1082 (2013)
   PUBMED   23648065
REFERENCE   4  (residues 1 to 604)
  AUTHORS   Chung,S., Low,S.K., Zembutsu,H., Takahashi,A., Kubo,M., Sasa,M. and
            Nakamura,Y.
  TITLE     A genome-wide association study of chemotherapy-induced alopecia in
            breast cancer patients
  JOURNAL   Breast Cancer Res 15 (5), R81 (2013)
   PUBMED   24025145
REFERENCE   5  (residues 1 to 604)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 604)
  AUTHORS   Hsieh JY, Chen SH and Hung HC.
  TITLE     Functional roles of the tetramer organization of malic enzyme
  JOURNAL   J Biol Chem 284 (27), 18096-18105 (2009)
   PUBMED   19416979
  REMARK    GeneRIF: human c-NADP-ME exists mainly as a tetramer, whereas human
            m-NAD(P)-ME exists as a mixture of dimers and tetramers
REFERENCE   7  (residues 1 to 604)
  AUTHORS   Hsieh JY, Liu JH, Fang YW and Hung HC.
  TITLE     Dual roles of Lys(57) at the dimer interface of human mitochondrial
            NAD(P)+-dependent malic enzyme
  JOURNAL   Biochem J 420 (2), 201-209 (2009)
   PUBMED   19236308
  REMARK    GeneRIF: Studies demonstrate that the Lys57 residue plays dual
            functional roles in the structural integrity of the allosteric site
            and in the subunit-subunit interaction at the dimer interface of
            m-NAD(P)-ME.
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 604)
  AUTHORS   Hsieh JY, Liu GY and Hung HC.
  TITLE     Influential factor contributing to the isoform-specific inhibition
            by ATP of human mitochondrial NAD(P)+-dependent malic enzyme:
            functional roles of the nucleotide binding site Lys346
  JOURNAL   FEBS J 275 (21), 5383-5392 (2008)
   PUBMED   18959763
  REMARK    GeneRIF: ATP inhibition is proposed to be determined by the
            electrostatic potential involving the positive charge on the side
            chain of Lys346
REFERENCE   9  (residues 1 to 604)
  AUTHORS   Loeber G, Maurer-Fogy I and Schwendenwein R.
  TITLE     Purification, cDNA cloning and heterologous expression of the human
            mitochondrial NADP(+)-dependent malic enzyme
  JOURNAL   Biochem J 304 (Pt 3) (Pt 3), 687-692 (1994)
   PUBMED   7818469
REFERENCE   10 (residues 1 to 604)
  AUTHORS   Siebert,G., Ritter,H. and Kompf,J.
  TITLE     Mitochondrial malic enzyme (E.C.1.1.1.40) in human leukocytes:
            formal genetics and population genetics
  JOURNAL   Hum Genet 51 (3), 319-322 (1979)
   PUBMED   511162
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001831.5, BM906572.1,
            X79440.1, AY424278.1, BC022472.2, AA449933.1, AI948779.1 and
            AI198184.1.
            On Apr 8, 2005 this sequence version replaced NP_006671.1.
            
            Summary: Malic enzyme catalyzes the oxidative decarboxylation of
            malate to pyruvate using either NAD+ or NADP+ as a cofactor.
            Mammalian tissues contain 3 distinct isoforms of malic enzyme: a
            cytosolic NADP(+)-dependent isoform, a mitochondrial
            NADP(+)-dependent isoform, and a mitochondrial NAD(+)-dependent
            isoform. This gene encodes a mitochondrial NADP(+)-dependent
            isoform. Multiple alternatively spliced transcript variants have
            been found for this gene, but the biological validity of some
            variants has not been determined. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) and variants 2-4 all encode
            the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X79440.1, SRR14038196.259994.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..604
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.2"
     Protein         1..604
                     /product="NADP-dependent malic enzyme, mitochondrial
                     isoform 1"
                     /EC_number="1.1.1.40"
                     /note="malic enzyme, NADP+-dependent, mitochondrial;
                     pyruvic-malic carboxylase; NADP-dependent malic enzyme,
                     mitochondrial; mitochondrial NADP(+)-dependent malic
                     enzyme 3; malic enzyme 3, NADP(+)-dependent,
                     mitochondrial; malate dehydrogenase
                     (oxaloacetate-decarboxylating) (NADP(+))"
                     /calculated_mol_wt=66938
     Region          29..50
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16798.2)"
     Region          38..588
                     /region_name="PLN03129"
                     /note="NADP-dependent malic enzyme; Provisional"
                     /db_xref="CDD:215594"
     Site            304
                     /site_type="other"
                     /note="Important for activity. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q16798.2)"
     Site            371
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P06801; propagated from
                     UniProtKB/Swiss-Prot (Q16798.2)"
     CDS             1..604
                     /gene="ME3"
                     /gene_synonym="NADP-ME"
                     /coded_by="NM_006680.3:145..1959"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS8277.1"
                     /db_xref="GeneID:10873"
                     /db_xref="HGNC:HGNC:6985"
                     /db_xref="MIM:604626"
ORIGIN      
        1 mgaalgtgtr lapwpgracg alprwtptap aqgchskpgp arpvplkkrg ydvtrnphln
       61 kgmaftleer lqlgihglip pcflsqdvql lrimryyerq qsdldkyiil mtlqdrnekl
      121 fyrvltsdve kfmpivytpt vglacqhygl tfrrprglfi tihdkghlat mlnswpedni
      181 kavvvtdger ilglgdlgcy gmgipvgkla lytacggvnp qqclpvlldv gtnneellrd
      241 plyiglkhqr vhgkayddll defmqavtdk fgincliqfe dfananafrl lnkyrnkycm
      301 fnddiqgtas vavagilaal ritknklsnh vfvfqgagea amgiahllvm alekegvpka
      361 eatrkiwmvd skglivkgrs hlnhekemfa qdhpevnsle evvrlvkpta iigvaaiaga
      421 fteqilrdma sfherpiifa lsnptskaec taekcyrvte grgifasgsp fksvtledgk
      481 tfipgqgnna yvfpgvalgv iaggirhipd eiflltaeqi aqevseqhls qgrlypplst
      541 irdvslriai kvldyaykhn lasyypepkd keafvrslvy tpdydsftld sytwpkeamn
      601 vqtv
//
LOCUS       NP_001341191            1818 aa            linear   PRI 19-MAR-2023
DEFINITION  ankyrin-2 isoform 30 [Homo sapiens].
ACCESSION   NP_001341191
VERSION     NP_001341191.1
DBSOURCE    REFSEQ: accession NM_001354262.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1818)
  AUTHORS   Zhuang L, Ding W, Ding W, Zhang Q, Xu X and Xi D.
  TITLE     lncRNA ZNF667-AS1 (NR_036521.1) inhibits the progression of
            colorectal cancer via regulating ANK2/JAK2 expression
  JOURNAL   J Cell Physiol 236 (3), 2178-2193 (2021)
   PUBMED   32853419
  REMARK    GeneRIF: lncRNA ZNF667-AS1 (NR_036521.1) inhibits the progression
            of colorectal cancer via regulating ANK2/JAK2 expression.
REFERENCE   2  (residues 1 to 1818)
  AUTHORS   Schabort JJ, Nam AR, Lee KH, Kim SW, Lee JE and Cho JY.
  TITLE     ANK2 Hypermethylation in Canine Mammary Tumors and Human Breast
            Cancer
  JOURNAL   Int J Mol Sci 21 (22), 8697 (2020)
   PUBMED   33218035
  REMARK    GeneRIF: ANK2 Hypermethylation in Canine Mammary Tumors and Human
            Breast Cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1818)
  AUTHORS   Jeong S, Park YJ, Yun W, Lee ST, Choi JR, Suh C, Jo JC, Cha HJ,
            Jeong JY, Chang H, Cha YJ, Kim H, Park MJ, Song W, Cho EH, Jeong
            EG, Lee J, Park Y, Lee YS, Kim DJ and Lee HS.
  TITLE     Genetic heterogeneity and prognostic impact of recurrent ANK2 and
            TP53 mutations in mantle cell lymphoma: a multi-centre cohort study
  JOURNAL   Sci Rep 10 (1), 13359 (2020)
   PUBMED   32770099
  REMARK    GeneRIF: Genetic heterogeneity and prognostic impact of recurrent
            ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre
            cohort study.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1818)
  AUTHORS   Sharma N, Bham K and Senapati S.
  TITLE     Human ankyrins and their contribution to disease biology: An update
  JOURNAL   J Biosci 45 (2020)
   PUBMED   33410423
  REMARK    GeneRIF: Human ankyrins and their contribution to disease biology:
            An update.
            Review article
REFERENCE   5  (residues 1 to 1818)
  AUTHORS   Scotland P, Zhou D, Benveniste H and Bennett V.
  TITLE     Nervous system defects of AnkyrinB (-/-) mice suggest functional
            overlap between the cell adhesion molecule L1 and 440-kD AnkyrinB
            in premyelinated axons
  JOURNAL   J Cell Biol 143 (5), 1305-1315 (1998)
   PUBMED   9832558
REFERENCE   6  (residues 1 to 1818)
  AUTHORS   Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB,
            Donnelly P, Vergnaud G, Bachner L, Moisan JP et al.
  TITLE     Mapping of a gene for long QT syndrome to chromosome 4q25-27
  JOURNAL   Am J Hum Genet 57 (5), 1114-1122 (1995)
   PUBMED   7485162
REFERENCE   7  (residues 1 to 1818)
  AUTHORS   Chan W, Kordeli E and Bennett V.
  TITLE     440-kD ankyrinB: structure of the major developmentally regulated
            domain and selective localization in unmyelinated axons
  JOURNAL   J Cell Biol 123 (6 Pt 1), 1463-1473 (1993)
   PUBMED   8253844
REFERENCE   8  (residues 1 to 1818)
  AUTHORS   Alders,M., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301308
REFERENCE   9  (residues 1 to 1818)
  AUTHORS   Tse WT, Menninger JC, Yang-Feng TL, Francke U, Sahr KE, Lux SE,
            Ward DC and Forget BG.
  TITLE     Isolation and chromosomal localization of a novel nonerythroid
            ankyrin gene
  JOURNAL   Genomics 10 (4), 858-866 (1991)
   PUBMED   1833308
REFERENCE   10 (residues 1 to 1818)
  AUTHORS   Otto E, Kunimoto M, McLaughlin T and Bennett V.
  TITLE     Isolation and characterization of cDNAs encoding human brain
            ankyrins reveal a family of alternatively spliced genes
  JOURNAL   J Cell Biol 114 (2), 241-253 (1991)
   PUBMED   1830053
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC017007.9, AC004057.1 and
            AC093900.3.
            
            Summary: This gene encodes a member of the ankyrin family of
            proteins that link the integral membrane proteins to the underlying
            spectrin-actin cytoskeleton. Ankyrins play key roles in activities
            such as cell motility, activation, proliferation, contact and the
            maintenance of specialized membrane domains. Most ankyrins are
            typically composed of three structural domains: an amino-terminal
            domain containing multiple ankyrin repeats; a central region with a
            highly conserved spectrin binding domain; and a carboxy-terminal
            regulatory domain which is the least conserved and subject to
            variation. The protein encoded by this gene is required for
            targeting and stability of Na/Ca exchanger 1 in cardiomyocytes.
            Mutations in this gene cause long QT syndrome 4 and cardiac
            arrhythmia syndrome. Multiple transcript variants encoding
            different isoforms have been described. [provided by RefSeq, Dec
            2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.201358.1,
                                           SRR1803615.209803.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1818
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25-q26"
     Protein         1..1818
                     /product="ankyrin-2 isoform 30"
                     /note="ankyrin B; ankyrin 2, neuronal; ankyrin, brain;
                     ankyrin-2, nonerythrocytic; non-erythroid ankyrin"
                     /calculated_mol_wt=199845
     Region          16..>273
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Site            order(42,44,48..49,52..54,56..57,61,64,73,75,77,81..82,
                     85..87,89..90,94,97,106,108,110,114..115,118..120,
                     122..123,127,130)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          42..73
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          75..106
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          108..133
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          164..>406
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          174..209
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(211,213,217..218,221..223,225..226,230,233,242,244,
                     246,250..251,254..256,258..259,263,266,275,277,279,
                     283..284,287..289,291..292,296,299)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          211..242
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          244..275
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          277..307
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          310..341
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          343..373
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          376..407
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          383..>668
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Site            order(409,411,415..416,419..421,423..424,428,431,440,442,
                     444,448..449,452..454,456..457,461,464,473,475,477,
                     481..482,485..487,489..490,494,497)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          409..440
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          442..473
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          475..504
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          508..533
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          540..>764
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          541..566
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(574,576,580..581,584..586,588..589,593,596,605,607,
                     609,613..614,617..619,621..622,626,629,638,640,642,
                     646..647,650..652,654..655,659,662)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          574..605
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          607..638
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          640..669
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(673,675,679..680,683..685,687..688,692,695,704,706,
                     708,712..713,716..718,720..721,725,728,737,739,741,
                     745..746,749..751,753..754,758,761)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          673..704
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          706..737
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          739..768
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          740..792
                     /region_name="Ank_4"
                     /note="Ankyrin repeats (many copies); pfam13637"
                     /db_xref="CDD:372654"
     Region          945..1049
                     /region_name="ZU5"
                     /note="Domain present in ZO-1 and Unc5-like netrin
                     receptors; smart00218"
                     /db_xref="CDD:128514"
     Region          1270..1399
                     /region_name="UPA_2"
                     /note="UPA domain; pfam17809"
                     /db_xref="CDD:375346"
     Region          1428..1511
                     /region_name="Death_ank2"
                     /note="Death domain of Ankyrin-2; cd08804"
                     /db_xref="CDD:260066"
     Region          <1584..1741
                     /region_name="NESP55"
                     /note="Neuroendocrine-specific golgi protein P55 (NESP55);
                     pfam06390"
                     /db_xref="CDD:115071"
     CDS             1..1818
                     /gene="ANK2"
                     /gene_synonym="ANK-2; brank-2; CFAP87; FAP87; LQT4"
                     /coded_by="NM_001354262.2:200..5656"
                     /note="isoform 30 is encoded by transcript variant 30"
                     /db_xref="CCDS:CCDS93575.1"
                     /db_xref="GeneID:287"
                     /db_xref="HGNC:HGNC:493"
                     /db_xref="MIM:106410"
ORIGIN      
        1 mttmlqksds nasflraara gnldkvveyl kggidintcn qnglnalhla akeghvglvq
       61 ellgrgssvd satkkgntal hiaslagqae vvkvlvkega ninaqsqngf tplymaaqen
      121 hidvvkylle nganqstate dgftplaval qqghnqavai llendtkgkv rlpalhiaar
      181 kddtksaall lqndhnadvq skmmvnrtte sgftplhiaa hygnvnvatl llnrgaavdf
      241 tarngitplh vaskrgntnm vkllldrggq idaktrdglt plhcaarsgh dqvvelller
      301 gapllartkn glsplhmaaq gdhvecvkhl lqhkapvddv tldyltalhv aahcghyrvt
      361 kllldkranp naralngftp lhiackknri kvmellvkyg asiqaitesg ltpihvaafm
      421 ghlnivllll qngaspdvtn irgetalhma aragqvevvr cllrngalvd arareeqtpl
      481 hiasrlgkte ivqlllqhma hpdaattngy tplhisareg qvdvasvlle agaahslatk
      541 kgftplhvaa kygsldvakl llqrraaads agkngltplh vaahydnqkv allllekgas
      601 phatakngyt plhiaakknq mqiastllny gaetnivtkq gvtplhlasq eghtdmvtll
      661 ldkganihms tksgltslhl aaqedkvnva diltkhgadq dahtklgytp livachygnv
      721 kmvnfllkqg anvnaktkng ytplhqaaqq ghthiinvll qhgakpnatt angntalaia
      781 krlgyisvvd tlkvvteevt tttttitekh klnvpetmte vldvsdeegd dtmtgdggey
      841 lrpedlkelg ddslpssqfl dgmnylrysl eggrsdslrs fssdrshtls hasylrdsav
      901 mddsvvipsh qvstlakeae rnsyrlswgt enldnvalss spihsgflvs fmvdarggam
      961 rgcrhnglri iipprkctap trvtcrlvkr hrlatmppmv egeglasrli evgpsgaqfl
     1021 gpviveiphf aalrgkerel vvlrsengds wkehfcdyte delneilngm devldspedl
     1081 ekkricriit rdfpqyfavv srikqdsnli gpeggvlsst vvpqvqavfp egaltkrirv
     1141 glqaqpmhse lvkkilgnka tfspivtlep rrrkfhkpit mtipvpkass dvmlngfggd
     1201 aptlrllcsi tggttpaqwe ditgttpltf vnecvsfttn vsarfwlidc rqiqesvtfa
     1261 sqvyreiicv pymakfvvfa kshdpiearl rcfcmtddkv dktleqqenf aevarsrdve
     1321 vlegkpiyvd cfgnlvpltk sgqhhifsff afkenrlplf vkvrdttqep cgrlsfmkep
     1381 kstrglvhqa icnlnitlpi ytkesesdqe qeeeidmtse knpqdeqeri eerlayiadh
     1441 lgfswtelar eldfteeqih qirienpnsl qdqshallky wlerdgkhat dtnlvecltk
     1501 inrmdivhlm etnteplqer ishsyaeieq titldhsegf svlqeelcta qhkqkeeqav
     1561 skesetcdhp pivseedisv gystfqdgvp ktegdssata lfpqthkeqv qqdfsgkmqd
     1621 lpeessleyq qeyfvttpgt etsetqkami vpsspsktpe evstpaeeek lylqtptsse
     1681 rggspiiqep eepsehrees sprktslviv esadnqpetc erldedaafe kgddmpeipp
     1741 etvteeeyid ehghtvvkkv trkiirryvs segtekeeim vqgmpqepvn ieegdgyskv
     1801 ikrvvlksdt eqsednne
//
LOCUS       NP_001303889             122 aa            linear   PRI 19-MAR-2023
DEFINITION  mth938 domain-containing protein isoform c [Homo sapiens].
ACCESSION   NP_001303889
VERSION     NP_001303889.1
DBSOURCE    REFSEQ: accession NM_001316960.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 122)
  AUTHORS   Golden E, Rashwan R, Woodward EA, Sgro A, Wang E, Sorolla A, Waryah
            C, Tie WJ, Cuyas E, Ratajska M, Kardas I, Kozlowski P, Johnstone
            EKM, See HB, Duffy C, Parry J, Lagerborg KA, Czapiewski P, Menendez
            JA, Gorczynski A, Wasag B, Pfleger KDG, Curtis C, Lee BK, Kim J,
            Cursons J, Pavlos NJ, Biernat W, Jain M, Woo AJ, Redfern A and
            Blancafort P.
  TITLE     The oncogene AAMDC links PI3K-AKT-mTOR signaling with metabolic
            reprograming in estrogen receptor-positive breast cancer
  JOURNAL   Nat Commun 12 (1), 1920 (2021)
   PUBMED   33772001
  REMARK    GeneRIF: The oncogene AAMDC links PI3K-AKT-mTOR signaling with
            metabolic reprograming in estrogen receptor-positive breast cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 122)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 122)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 122)
  AUTHORS   Xiao R, Li C, Wang C, Cao Y, Zhang L, Guo Y, Xin Y, Zhang H and
            Zhou G.
  TITLE     Adipogenesis associated Mth938 domain containing (AAMDC) protein
            expression is regulated by alternative polyadenylation and
            microRNAs
  JOURNAL   FEBS Lett 593 (14), 1724-1734 (2019)
   PUBMED   31116411
  REMARK    GeneRIF: AAMDC is post-transcriptionally regulated through APA and
            microRNAs
REFERENCE   5  (residues 1 to 122)
  AUTHORS   Ma X, Ding W, Wang J, Wu G, Zhang H, Yin J, Zhou L and Li D.
  TITLE     LOC66273 isoform 2, a novel protein highly expressed in white
            adipose tissue, induces adipogenesis in 3T3-L1 cells
  JOURNAL   J Nutr 142 (3), 448-455 (2012)
   PUBMED   22279136
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP270361.1, BI791786.1 and BC002752.2.
            
            Transcript Variant: This variant (4) differs in the 5' UTR and has
            an alternate exon in place of the last two exons compared to
            variant 1. The resulting isoform (c) has a shorter and distinct
            C-terminus compared to isoform a. Variants 3-6 and 13-16 all encode
            the same isoform (c).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BI791786.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..122
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1"
     Protein         1..122
                     /product="mth938 domain-containing protein isoform c"
                     /note="UPF0366 protein C11orf67; adipogenesis associated
                     Mth938 domain-containing protein; mth938 domain-containing
                     protein"
                     /calculated_mol_wt=13201
     Region          5..120
                     /region_name="Mth938"
                     /note="Mth938 domain. Mth938 is a hypothetical protein
                     encoded by the Methanobacterium thermoautotrophicum (Mth)
                     genome. This protein crystallizes as a dimer, although it
                     is monomeric in solution, with one disulfide bond in each
                     monomer. The function of the...; cd05126"
                     /db_xref="CDD:240162"
     Region          6..122
                     /region_name="MTH138-like domain. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H7C9.1)"
     CDS             1..122
                     /gene="AAMDC"
                     /gene_synonym="C11orf67; CK067; PTD015"
                     /coded_by="NM_001316960.2:235..603"
                     /note="isoform c is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS8254.1"
                     /db_xref="GeneID:28971"
                     /db_xref="HGNC:HGNC:30205"
ORIGIN      
        1 mtspeiasls wgqmkvkgsn ttykdckvwp ggsrtwdwre tgtehspgvq padvkevvek
       61 gvqtlvigrg msealkvpss tveylkkhgi dvrvlqteqa vkeynalvaq gvrvggvfhs
      121 tc
//
LOCUS       NP_001269892             663 aa            linear   PRI 19-MAR-2023
DEFINITION  Holliday junction recognition protein isoform c [Homo sapiens].
ACCESSION   NP_001269892 XP_005246151
VERSION     NP_001269892.1
DBSOURCE    REFSEQ: accession NM_001282963.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 663)
  AUTHORS   Zhang Y, Zhang W, Sun L, Yue Y, Shen D, Tian B, Du M, Dong M, Liu Y
            and Zhang D.
  TITLE     HJURP inhibits proliferation of ovarian cancer cells by regulating
            CENP-A/CENP-N
  JOURNAL   Bull Cancer 109 (10), 1007-1016 (2022)
   PUBMED   35940943
  REMARK    GeneRIF: HJURP inhibits proliferation of ovarian cancer cells by
            regulating CENP-A/CENP-N.
REFERENCE   2  (residues 1 to 663)
  AUTHORS   Mao M, Jia Y, Chen Y, Yang J, Xu L, Zhang X, Zhou J, Li Z, Chen C,
            Ju S and Wang L.
  TITLE     HJURP regulates cell proliferation and chemo-resistance via
            YAP1/NDRG1 transcriptional axis in triple-negative breast cancer
  JOURNAL   Cell Death Dis 13 (4), 396 (2022)
   PUBMED   35459269
  REMARK    GeneRIF: HJURP regulates cell proliferation and chemo-resistance
            via YAP1/NDRG1 transcriptional axis in triple-negative breast
            cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 663)
  AUTHORS   Tsevegjav B, Takano A, Zhu M, Yoshitake Y, Shinohara M and Daigo Y.
  TITLE     Holliday junction recognition protein as a prognostic biomarker and
            therapeutic target for oral cancer
  JOURNAL   Int J Oncol 60 (3) (2022)
   PUBMED   35103286
  REMARK    GeneRIF: Holliday junction recognition protein as a prognostic
            biomarker and therapeutic target for oral cancer.
REFERENCE   4  (residues 1 to 663)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   5  (residues 1 to 663)
  AUTHORS   Wang DW, Yang ZS, Xu J, Yang LJ, Yang TC, Wang HQ, Feng MH and Su
            F.
  TITLE     Identification of Prognostic Genes for Colon Cancer through Gene
            Co-expression Network Analysis
  JOURNAL   Curr Med Sci 41 (5), 1012-1022 (2021)
   PUBMED   34542829
  REMARK    GeneRIF: Identification of Prognostic Genes for Colon Cancer
            through Gene Co-expression Network Analysis.
REFERENCE   6  (residues 1 to 663)
  AUTHORS   Dunleavy EM, Roche D, Tagami H, Lacoste N, Ray-Gallet D, Nakamura
            Y, Daigo Y, Nakatani Y and Almouzni-Pettinotti G.
  TITLE     HJURP is a cell-cycle-dependent maintenance and deposition factor
            of CENP-A at centromeres
  JOURNAL   Cell 137 (3), 485-497 (2009)
   PUBMED   19410545
  REMARK    GeneRIF: HJURP is a key factor for CENP-A deposition and
            maintenance at centromeres
REFERENCE   7  (residues 1 to 663)
  AUTHORS   Foltz DR, Jansen LE, Bailey AO, Yates JR 3rd, Bassett EA, Wood S,
            Black BE and Cleveland DW.
  TITLE     Centromere-specific assembly of CENP-a nucleosomes is mediated by
            HJURP
  JOURNAL   Cell 137 (3), 472-484 (2009)
   PUBMED   19410544
  REMARK    GeneRIF: HJURP is a possible cell-cycle-regulated CENP-A-specific
            histone chaperone required for centromeric chromatin assembly
REFERENCE   8  (residues 1 to 663)
  AUTHORS   Kato T, Sato N, Hayama S, Yamabuki T, Ito T, Miyamoto M, Kondo S,
            Nakamura Y and Daigo Y.
  TITLE     Activation of Holliday junction recognizing protein involved in the
            chromosomal stability and immortality of cancer cells
  JOURNAL   Cancer Res 67 (18), 8544-8553 (2007)
   PUBMED   17823411
REFERENCE   9  (residues 1 to 663)
  AUTHORS   Foltz DR, Jansen LE, Black BE, Bailey AO, Yates JR 3rd and
            Cleveland DW.
  TITLE     The human CENP-A centromeric nucleosome-associated complex
  JOURNAL   Nat Cell Biol 8 (5), 458-469 (2006)
   PUBMED   16622419
  REMARK    GeneRIF: hFLEG1 is associated with the CENP-A centromeric
            nucleosome
REFERENCE   10 (residues 1 to 663)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK301643.1, BM838206.1, DN998761.1, AB101211.1, CA441903.1,
            CF619091.1 and DB319863.1.
            On Sep 24, 2013 this sequence version replaced XP_005246151.1.
            
            Transcript Variant: This variant (3) lacks three alternate exons
            that result in the loss of an in-frame segment in the 5' coding
            region, compared to variant 1. The encoded isoform (c) is shorter
            than isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK301643.1, SRR18074969.3646389.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..663
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     Protein         1..663
                     /product="Holliday junction recognition protein isoform c"
                     /note="fetal liver expressing gene 1; up-regulated in lung
                     cancer 9; 14-3-3-associated AKT substrate; fetal
                     liver-expressing gene 1 protein"
                     /calculated_mol_wt=74241
     Region          186..300
                     /region_name="HJURP_mid"
                     /note="Holliday junction recognition protein-associated
                     repeat; pfam12346"
                     /db_xref="CDD:372060"
     Region          324..385
                     /region_name="HJURP_C"
                     /note="Holliday junction regulator protein family
                     C-terminal repeat; pfam12347"
                     /db_xref="CDD:432495"
     Region          469..528
                     /region_name="HJURP_C"
                     /note="Holliday junction regulator protein family
                     C-terminal repeat; pfam12347"
                     /db_xref="CDD:432495"
     CDS             1..663
                     /gene="HJURP"
                     /gene_synonym="FAKTS; hFLEG1; URLC9"
                     /coded_by="NM_001282963.2:36..2027"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS63166.1"
                     /db_xref="GeneID:55355"
                     /db_xref="HGNC:HGNC:25444"
                     /db_xref="MIM:612667"
ORIGIN      
        1 mlgtlrameg edveddqllq klrasrrrfq rrmqrlieky nqpfedtpvv qmatltyetp
       61 qglriwggrl ikernegeiq cagnragrdv rvtplpslas pavpapgycs risrkspgdp
      121 akpassprew dplhpsstdm alvprndsls lqetssssfl ssqpfedddi cnvtisdlya
      181 gmlhsmsrll stkpssiist ktfimqnwns rrrhryksrm nktyckgarr sqrsskenfi
      241 pcsepvkgtg alrdcknvld vscrktglkl ekaflevnrp qihkldpswk erkvtpskys
      301 sliyfdssat ynldeenrfr tlkwlispvk ivsrptirqg hgenrqreie irfdqlhrey
      361 clsprnqprr mclpdswamn myrggpaspg glqgletrrl slpsskakak slseafenlg
      421 krsleagrcl pksdsssslp ktnpthsatr pqqtsdlhvq gnssgifrks vspsktlsvp
      481 dkevpghgrn rydeikeefd klhqkyclks pgqmtvplci gvstdkasme vryqtegflg
      541 klnpdphfqg fqklpssplg crksllgsta ieapsstcva raitrdgtrd hqfpakrprl
      601 sepqgsgrqg nslgasdgvd ntvrpgdqgs ssqpnseerg entsyrmeek sdfmleklet
      661 ksv
//
LOCUS       XP_047286880             522 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and BTB domain-containing protein 18 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047286880
VERSION     XP_047286880.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430924.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..522
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..522
                     /product="zinc finger and BTB domain-containing protein 18
                     isoform X1"
                     /calculated_mol_wt=58224
     Region          1..147
                     /region_name="BTB_POZ_ZBTB18_RP58"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in zinc finger and
                     BTB domain-containing protein 18 (ZBTB18); cd18324"
                     /db_xref="CDD:349633"
     Region          <294..>481
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          372..392
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          412..432
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(417,419,421,423..424,427..428,431,445,447,451..452,
                     455..456,459,473,475,477,479..480,483..484)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          425..447
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          440..460
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          468..486
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..522
                     /gene="ZBTB18"
                     /gene_synonym="C2H2-171; MRD22; RP58; TAZ-1; ZNF238"
                     /coded_by="XM_047430924.1:42..1610"
                     /db_xref="GeneID:10472"
                     /db_xref="HGNC:HGNC:13030"
                     /db_xref="MIM:608433"
ORIGIN      
        1 mefpdhsrhl lqclseqrhq gflcdctvlv gdaqfrahra vlascsmyfh lfykdqldkr
       61 divhlnsdiv tapafallle fmyegklqfk dlpiedvlaa asylhmydiv kvckkklkek
      121 atteadstkk eedasscsdk veslsdgssh iagdlpsded egedeklnil pskrdlaaep
      181 gnmwmrlpsd sagipqagge aephataagk tvaspcsste slsqrsvtsv rdsadvdcvl
      241 dlsvksslsg venlnssyfs sqdvlrsnlv qvkvekeasc desdvgtndy dmehstvkes
      301 vstnnrvqye pahlaplred svlreldred kasddemmtp eservqvegg messllpyvs
      361 nilspagqif mcplcnkvfp sphilqihls thfreqdgir skpaadvnvp tcslcgktfs
      421 cmytlkrher thsgekpytc tqcgksfqys hnlsrhavvh trekphackw cerrftqsgd
      481 lyrhirkfhc elvnslsvks ealslptvrd wtledssqel wk
//
LOCUS       XP_047299104             590 aa            linear   PRI 20-MAR-2023
DEFINITION  muscarinic acetylcholine receptor M3 isoform X1 [Homo sapiens].
ACCESSION   XP_047299104
VERSION     XP_047299104.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443148.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..590
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..590
                     /product="muscarinic acetylcholine receptor M3 isoform X1"
                     /calculated_mol_wt=65997
     Region          66..>270
                     /region_name="7tmA_mAChR_M3"
                     /note="muscarinic acetylcholine receptor subtype M3,
                     member of the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15299"
                     /db_xref="CDD:320426"
     Region          70..96
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320426"
     Region          103..130
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320426"
     Region          141..171
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320426"
     Region          183..206
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320426"
     Region          228..257
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320426"
     Region          <484..564
                     /region_name="7tm_GPCRs"
                     /note="seven-transmembrane G protein-coupled receptor
                     superfamily; cl28897"
                     /db_xref="CDD:452889"
     Region          490..512
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:410628"
     Region          523..548
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:410628"
     CDS             1..590
                     /gene="CHRM3"
                     /gene_synonym="EGBRS; HM3; PBS"
                     /coded_by="XM_047443148.1:1086..2858"
                     /db_xref="GeneID:1131"
                     /db_xref="HGNC:HGNC:1952"
                     /db_xref="MIM:118494"
ORIGIN      
        1 mtlhnnstts plfpnisssw ihspsdaglp pgtvthfgsy nvsraagnfs spdgttddpl
       61 gghtvwqvvf iafltgilal vtiignilvi vsfkvnkqlk tvnnyfllsl acadliigvi
      121 smnlfttyii mnrwalgnla cdlwlaidyv asnasvmnll visfdryfsi trpltyrakr
      181 ttkragvmig lawvisfvlw apailfwqyf vgkrtvppge cfiqflsept itfgtaiaaf
      241 ympvtimtil ywriyketek rtkelaglqa sgteaetenf vhptgssrsc ssyelqqqsm
      301 krsnrrkygr chfwfttksw kpsseqmdqd hsssdswnnn daaaslensa ssdeedigse
      361 traiysivlk lpghstilns tklpssdnlq vpeeelgmvd lerkadklqa qksvddggsf
      421 pksfsklpiq lesavdtakt sdvnssvgks tatlplsfke atlakrfalk trsqitkrkr
      481 mslvkekkaa qtlsaillaf iitwtpynim vlvntfcdsc ipktfwnlgy wlcyinstvn
      541 pvcyalcnkt frttfkmlll cqcdkkkrrk qqyqqrqsvi fhkrapeqal
//
LOCUS       XP_011539279            1170 aa            linear   PRI 20-MAR-2023
DEFINITION  homeodomain-interacting protein kinase 1 isoform X6 [Homo sapiens].
ACCESSION   XP_011539279
VERSION     XP_011539279.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011540977.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Mar 26, 2018 this sequence version replaced XP_011539279.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1170
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1170
                     /product="homeodomain-interacting protein kinase 1 isoform
                     X6"
                     /calculated_mol_wt=126044
     Region          174..488
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(196..199,202,204,217,219,252,268..271,315,319..320,
                     322,336..337)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     CDS             1..1170
                     /gene="HIPK1"
                     /gene_synonym="Myak; Nbak2"
                     /coded_by="XM_011540977.4:212..3724"
                     /db_xref="GeneID:204851"
                     /db_xref="HGNC:HGNC:19006"
                     /db_xref="MIM:608003"
ORIGIN      
        1 masqlqvfsp psvsssafcs akklkiepsg wdvsgqssnd kyythsktlp atqgqanssh
       61 qvanfnipay dqglllpapa vehivvtaad ssgsaatstf qssqtlthrs nvsllepyqk
      121 cglkrkseev dsngsvqiie ehpplmlqnr tvvgaaattt tvttksssss gegdyqlvqh
      181 eilcsmtnsy evleflgrgt fgqvakcwkr stkeivaiki lknhpsyarq gqievsilsr
      241 lssenadeyn fvrsyecfqh knhtclvfem leqnlydflk qnkfsplplk yirpilqqva
      301 talmklkslg lihadlkpen imlvdpvrqp yrvkvidfgs ashvskavcs tylqsryyra
      361 peiilglpfc eaidmwslgc viaelflgwp lypgaseydq tpeeheletg ikskearkyi
      421 fnclddmaqv nmstdlegtd mlaekadrre yidllkkmlt idadkritpl ktlnhqfvtm
      481 thlldfphsn hvkscfqnme ickrrvhmyd tvsqikspft thvapntstn ltmsfsnqln
      541 tvhnqasvla ssstaaaatl slansdvsll nyqsalypss aapvpgvaqq gvslqpgttq
      601 ictqtdpfqq tfivcppafq tglqattkhs gfpvrmdnav pivpqapaaq plqiqsgvlt
      661 qgsctplmva tlhpqvatit pqyavpftls caagrpalve qtaavlqawp ggtqqillps
      721 twqqlpgval hnsvqptami peamgsgqql adwrnahshg nqystimqqp slltnhvtla
      781 taqplnvgva hvvrqqqsss lpskknkqsa pvsskssldv lpsqvyslvg ssplrttssy
      841 nslvpvqdqh qpiiipdtps ppvsvitirs dtdeeednky kpsssglkpr snvisyvtvn
      901 dspdsdssls spystdtlsa lrgnsgsvle gpgrvvadgt gtrtiivppl ktqlgdctva
      961 tqasgllsnk tkpvasvsgq ssgccitptg yraqrggtsa aqplnlsqnq qssaaptsqe
     1021 rssnpaprrq qafvaplsqa pytfqhgspl hstghphlap apahlpsqah lytyaaptsa
     1081 aalgstssia hlfspqgssr haaaytthps tlvhqvpvsv gpslltsasv apaqyqhqfa
     1141 tqsyigssrg stiytgypls ptkisqysyl
//
LOCUS       XP_047305444             588 aa            linear   PRI 20-MAR-2023
DEFINITION  forkhead box protein J3 isoform X5 [Homo sapiens].
ACCESSION   XP_047305444
VERSION     XP_047305444.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449488.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..588
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..588
                     /product="forkhead box protein J3 isoform X5"
                     /calculated_mol_wt=65403
     Region          <54..301
                     /region_name="COG5025"
                     /note="Transcription factor of the Forkhead/HNF3 family
                     [Transcription]"
                     /db_xref="CDD:227358"
     Region          77..155
                     /region_name="FH_FOXJ3"
                     /note="Forkhead (FH) domain found in Forkhead box protein
                     J3 (FOXJ3) and similar proteins; cd20052"
                     /db_xref="CDD:410826"
     Site            order(83,101..102,105,124..125,127..128,131,138,148..150,
                     152)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410826"
     Region          <338..408
                     /region_name="KLF1_2_4_N"
                     /note="N-terminal domain of Kruppel-like factor (KLF) 1,
                     KLF2, KLF4, and similar proteins; cl41729"
                     /db_xref="CDD:425360"
     CDS             1..588
                     /gene="FOXJ3"
                     /coded_by="XM_047449488.1:273..2039"
                     /db_xref="GeneID:22887"
                     /db_xref="HGNC:HGNC:29178"
                     /db_xref="MIM:616035"
ORIGIN      
        1 mglygqacps vtslrmtsel essltsmdwl pqltmraaiq ksdatqnahg tgiskknall
       61 dpnttldqee vqqhkdgkpp ysyaslitfa insspkkkmt lseiyqwicd nfpyyreags
      121 gwknsirhnl slnkcflkvp rskddpgkgs ywaidtnpke dvlptrpkkr arsvervtly
      181 ntdqdgsdsp rsslnnslsd qslasvnlns vgsvhsytpv tshpesvsqs ltpqqqpqyn
      241 lperdkqllf seynfedlsa sfrslyksvf eqslsqqglm nipsessqqs htsctyqhsp
      301 sstvsthphs nqsslsnshg sglnttgsns vaqvslshpq mhtqpsphpp hrphglpqhp
      361 qrsphpaphp qqhsqlqsph pqhpsphqhi qhhpnhqhqt lthqappppq qvscnsgvsn
      421 dwyatldmlk escriassvn wsdvdlsqfq glmesmrqad lknwsldqvq fadlcsslnq
      481 fftqtglihs qsnvqqnvch gamhptkpsq higtgnlyid srqnlppsvm pppgyphipq
      541 alstpgttma ghhramnqqh mmpsqafqmr rslppddiqd dfdwdsiv
//
LOCUS       XP_016856548             340 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1
            isoform X1 [Homo sapiens].
ACCESSION   XP_016856548
VERSION     XP_016856548.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001059.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..340
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..340
                     /product="guanine nucleotide-binding protein
                     G(I)/G(S)/G(T) subunit beta-1 isoform X1"
                     /calculated_mol_wt=37246
     Region          48..340
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(54,72,76,82..83,90..91,114,118,124..125,141..142,
                     159,163,169..170,183,200,205,211..212,224..225,243,247,
                     253..254,265..266,286,291,297..298,310..311,329,333,
                     339..340)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          58..95
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          101..141
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          146..181
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          188..223
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          229..265
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          273..309
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          315..339
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..340
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /coded_by="XM_017001059.3:108..1130"
                     /db_xref="GeneID:2782"
                     /db_xref="HGNC:HGNC:4396"
                     /db_xref="MIM:139380"
ORIGIN      
        1 mseldqlrqe aeqlknqird arkacadatl sqitnnidpv griqmrtrrt lrghlakiya
       61 mhwgtdsrll vsasqdgkli iwdsyttnkv haiplrsswv mtcayapsgn yvacggldni
      121 csiynlktre gnvrvsrela ghtgylsccr flddnqivts sgdttcalwd ietgqqtttf
      181 tghtgdvmsl slapdtrlfv sgacdasakl wdvregmcrq tftghesdin aicffpngna
      241 fatgsddatc rlfdlradqe lmtyshdnii cgitsvsfsk sgrlllagyd dfncnvwdal
      301 kadragvlag hdnrvsclgv tddgmavatg swdsflkiwn
//
LOCUS       XP_047275495             662 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 18 isoform X28 [Homo
            sapiens].
ACCESSION   XP_047275495
VERSION     XP_047275495.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419539.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..662
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..662
                     /product="coiled-coil domain-containing protein 18 isoform
                     X28"
                     /calculated_mol_wt=76348
     Region          112..>402
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          <162..>654
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     CDS             1..662
                     /gene="CCDC18"
                     /gene_synonym="NY-SAR-41"
                     /coded_by="XM_047419539.1:170..2158"
                     /db_xref="GeneID:343099"
                     /db_xref="HGNC:HGNC:30370"
ORIGIN      
        1 messssdyyn kdneeeslla nvaslrhelk itewslqslg eelssvspse nsdyapnpsr
       61 seklildvqp shpgllnysp yenvckisgs stdfqkkprd kmfsssapvd qeikslrekl
      121 nklrqqnacl vtqnhslmtk fesihfeltq srakvsmles aqqqaasvpi leeqiinlea
      181 evsaqdkvlr eaenkleqsq kmviekeqsl qeskeecikl kvdlleqtkq gkraerqrne
      241 alynaeelsk afqqykkkva eklekvqaee eilernltnc ekenkrlqer cglykselei
      301 lkeklrqlke ennngkeklr imavknsevm aqltesrqsi lkleselenk deilrdkfsl
      361 mnenrelkvr vaaqnerldl cqqeiessrv elrslekiis qlplkrelfg fksylskyqm
      421 ssfsnkedrc igcceanklv iselriklai keaeiqklha nltanqlsqs litcndsqes
      481 sklssletep vklgghqvae svkdqnqhtm nkqyekerqr lvtgieelrt kliqieaens
      541 dlkvnmahrt sqfqliqeel lekasnsskl esemtkkcsq lltlekqlee kivayssiaa
      601 knaeleqelm eknekirsle tninteheki clafekakki hleqhkemek qiercllctf
      661 ff
//
LOCUS       XP_016856692             659 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-12 receptor subunit beta-2 isoform X4 [Homo sapiens].
ACCESSION   XP_016856692
VERSION     XP_016856692.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001203.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 8% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..659
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..659
                     /product="interleukin-12 receptor subunit beta-2 isoform
                     X4"
                     /calculated_mol_wt=74477
     Region          28..110
                     /region_name="Lep_receptor_Ig"
                     /note="Ig-like C2-type domain; pfam06328"
                     /db_xref="CDD:428890"
     Region          224..316
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(224,286,304)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(305..306,308..309)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          423..511
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(507..508,510..511)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          521..615
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(521,590,605)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(606..607,609..610)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..659
                     /gene="IL12RB2"
                     /coded_by="XM_017001203.2:641..2620"
                     /db_xref="GeneID:3595"
                     /db_xref="HGNC:HGNC:5972"
                     /db_xref="MIM:601642"
ORIGIN      
        1 mahtfrgcsl afmfiitwll ikakidackr gdvtvkpshv illgstvnit cslkprqgcf
       61 hysrrnklil ykfdrrinfh hghslnsqvt glplgttlfv cklacinsde iqicgaeifv
      121 gvapeqpqnl sciqkgeqgt vactwergrd thlyteytlq lsgpknltwq kqckdiycdy
      181 ldfginltpe spesnftakv tavnslgsss slpstftfld ivrplppwdi rikfqkasvs
      241 rctlywrdeg lvllnrlryr psnsrlwnmv nvtkakgrhd lldlkpftey efqissklhl
      301 ykgswsdwse slraqtpeee ptgmldvwym krhidysrqq islfwknlsv seargkilhy
      361 qvtlqeltgg kamtqnitgh tswttviprt gnwavavsaa nskgsslptr inimnlceag
      421 llaprqvsan segmdnilvt wqpprkdpsa vqeyvvewre lhpggdtqvp lnwlrsrpyn
      481 vsalisenik syicyeirvy alsgdqggcs silgnskhka plsgphinai teekgsilis
      541 wnsipvqeqm gcllhyriyw kerdsnsqpq lceipyrvsq nshpinslqp rvtyvlwmta
      601 ltaagesshg nerefclqgk anwmafvaps iciaiimvgi fsthyfqqkr rhscpwtgs
//
LOCUS       XP_047277304             427 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear transcription factor Y subunit gamma isoform X4 [Homo
            sapiens].
ACCESSION   XP_047277304
VERSION     XP_047277304.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421348.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..427
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..427
                     /product="nuclear transcription factor Y subunit gamma
                     isoform X4"
                     /calculated_mol_wt=46857
     Region          <17..>123
                     /region_name="HAP5"
                     /note="CCAAT-binding factor, subunit C [Transcription];
                     COG5208"
                     /db_xref="CDD:227533"
     CDS             1..427
                     /gene="NFYC"
                     /gene_synonym="CBF-C; CBFC; H1TF2A; HAP5; HSM; NF-YC"
                     /coded_by="XM_047421348.1:221..1504"
                     /db_xref="GeneID:4802"
                     /db_xref="HGNC:HGNC:7806"
                     /db_xref="MIM:605344"
ORIGIN      
        1 msteggfggt sssdaqqslq sfwprvmeei rnltvkdfrv qelplarikk imkldedvkm
       61 isaeapvlfa kaaqifitel tlrawihted nkrrtlqrnd iamaitkfdq fdflidivpr
      121 delkppkrqe evrqsvtpae pvqyyftlaq qptavqvqgq qqgqqttsst ttiqpgqiii
      181 aqpqqgqttp vtmqvgegqq vqivqaqpqg qaqqaqsgtg qtmqvmqqii tntgeiqqip
      241 vqlnagqlqy irlaqpvsgt qvvqgqiqtl atnaqqgqrn asqgkprrcl ketlqitqte
      301 vqqgqqqfsq ftdgqrnsvq qarvseltge aeprevkatg nstpctsslp tthppshrag
      361 ascvccsqpq qsstspppsd alqwvvveql yqiqqvtmpa gqdlaqpmfi qsanqpsdgq
      421 apqvtgd
//
LOCUS       XP_047278488            1141 aa            linear   PRI 20-MAR-2023
DEFINITION  AT-rich interactive domain-containing protein 4B isoform X4 [Homo
            sapiens].
ACCESSION   XP_047278488
VERSION     XP_047278488.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422532.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1141
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1141
                     /product="AT-rich interactive domain-containing protein 4B
                     isoform X4"
                     /calculated_mol_wt=129317
     Region          1..61
                     /region_name="Tudor_ARID4B_rpt1"
                     /note="first Tudor domain found in AT-rich interactive
                     domain-containing protein 4B (ARID4B) and similar
                     proteins; cd20460"
                     /db_xref="CDD:410531"
     Site            order(20,23,25,42,45,47)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410531"
     Region          62..118
                     /region_name="Tudor_ARID4B_rpt2"
                     /note="second Tudor domain found in AT-rich interactive
                     domain-containing protein 4B (ARID4B) and similar
                     proteins; cd20462"
                     /db_xref="CDD:410533"
     Site            order(70,74,76,93,95,97)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410533"
     Region          170..263
                     /region_name="RBB1NT"
                     /note="RBB1NT (NUC162) domain; pfam08169"
                     /db_xref="CDD:429857"
     Region          308..399
                     /region_name="ARID_ARID4B"
                     /note="ARID/BRIGHT DNA binding domain of AT-rich
                     interactive domain-containing protein 4B (ARID4B) and
                     similar proteins; cd16883"
                     /db_xref="CDD:350647"
     Site            order(329..335,360,362..363,366,377,379..381,383)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:350647"
     Region          573..630
                     /region_name="CD_CSD"
                     /note="CHROMO (CHRromatin Organization Modifier) domains
                     and chromo shadow domains; cl28914"
                     /db_xref="CDD:452897"
     Region          583..>681
                     /region_name="SAS2"
                     /note="Histone acetyltransferase (MYST family) [Chromatin
                     structure and dynamics]; COG5027"
                     /db_xref="CDD:227360"
     Site            order(588..591,606,608..611,615,617..620,622..624,
                     627..628)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:350845"
     Site            order(588,608,611,615)
                     /site_type="other"
                     /note="putative methylated histone tail binding site
                     [chemical binding]"
                     /db_xref="CDD:350845"
     Site            order(605,607..612,614..618)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:350845"
     Site            order(605,608,612,614,618)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:350845"
     CDS             1..1141
                     /gene="ARID4B"
                     /gene_synonym="BCAA; BRCAA1; RBBP1L1; RBP1L1; SAP180"
                     /coded_by="XM_047422532.1:461..3886"
                     /db_xref="GeneID:51742"
                     /db_xref="HGNC:HGNC:15550"
                     /db_xref="MIM:609696"
ORIGIN      
        1 mkaldeppyl tvgtdvsaky rgafceakik takrlvkvkv tfrhdsstve vqddhikgpl
       61 kvgaivevkn ldgayqeavi nkltdaswyt vvfddgdekt lrrsslclkg erhfaesetl
      121 dqlpltnpeh fgtpvigkkt nrgrrsnhip eeessssssd ededdrkqid ellgkvvcvd
      181 yisldkkkal wfpalvvcpd csdeiavkkd nilvrsfkdg kftsvprkdv heitsdtapk
      241 pdavlkqafe qalefhksrt ipanwktelk edsssseaee eeeeeddeke kednsseeee
      301 eiepfpeere nflqqlykfm edrgtpinkr pvlgyrnlnl fklfrlvhkl ggfdniesga
      361 vwkqvyqdlg ipvlnsaagy nvkcaykkyl ygfeeycrsa niefqmalpe kvvnkqckec
      421 envkeikvke eneteikeik meeerniipr eekpiedeie rkenikpslg skknllesip
      481 thsdqekevn ikkpednenl ddkdddttrv deslnikvea eeekaksgde tnkeededde
      541 eaeeeeeeee eeededdddn neeeefecyp pgmkvqvryg rgknqkmyea sikdsdvegg
      601 evlylvhycg wnvrydewik adkivrpadk nvpkikhrkk iknkldkekd kdekyspknc
      661 klrrlskppf qtnpspemvs kldltdakns dtahiksiei tsilnglqas essaedseqe
      721 dergaqdmdn ngkeeskidh ltnnrndlis keeqnsssll eenkvhadlv iskpvskspe
      781 rlrkdievls edtdyeedev tkkrkdvkkd ttdksskpqi krgkrrycnt eeclktgspg
      841 kkeekaknke slcmenssns ssdedeeetk akmtptkkyn gleekrkslr ttgfysgfse
      901 vaekriklln nsderlqnsr akdrkdvwss iqgqwpkktl kelfsdsdte aaaspphpap
      961 eegvaeeslq tvaeeescsp svelekpppv nvdskpieek tvevndrkae fpssgsnsvl
     1021 ntppttpesp ssvtvtegsr qqssvtvsep lapnqeevrs iksetdstie vdsvagelqd
     1081 lqsegnsspa gfdasvssss snqpepehpe kdpstlnqil yvgvwsnqls rhcfpqttvs
     1141 n
//
LOCUS       XP_047283031             421 aa            linear   PRI 20-MAR-2023
DEFINITION  vasculin-like protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047283031
VERSION     XP_047283031.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427075.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..421
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..421
                     /product="vasculin-like protein 1 isoform X2"
                     /calculated_mol_wt=46100
     Region          325..418
                     /region_name="Vasculin"
                     /note="Vascular protein family Vasculin-like 1; pfam15337"
                     /db_xref="CDD:434646"
     CDS             1..421
                     /gene="GPBP1L1"
                     /gene_synonym="SP192"
                     /coded_by="XM_047427075.1:1253..2518"
                     /db_xref="GeneID:60313"
                     /db_xref="HGNC:HGNC:28843"
ORIGIN      
        1 maqhdfvpaw lnfstpqsak sptatfekhg ehlprgegrf gvsrrrhnss dgffnngplr
       61 tagdswhqps lfrhdsvdsg vskgayagit gnpsgwhsss rghdgmsqrs gggtgnhrhw
      121 ngsfhsrkgc afqekppmei reekkedkve klqfeeedfp slnpeagkqh qpcrpigtps
      181 gvwenppsak qpskmlvikk vskedpaaaf saaftspgsh hangnklssv vpsvyknlvp
      241 kpvpppskpn awkanrmehk sgslsssres aftspisvtk pvvlasgaal sspkeledns
      301 tpepkengee gchqnglalp vveegevlsh sleaehrllk amgwqeypen denclplted
      361 elkefhmkte qlrrngfgkn gflqsrsssl fspwrstcka efedsdtets ssetsdddaw
      421 k
//
LOCUS       XP_047284388             915 aa            linear   PRI 20-MAR-2023
DEFINITION  SCL-interrupting locus protein isoform X13 [Homo sapiens].
ACCESSION   XP_047284388
VERSION     XP_047284388.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428432.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..915
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..915
                     /product="SCL-interrupting locus protein isoform X13"
                     /calculated_mol_wt=101784
     Region          33..388
                     /region_name="STIL_N"
                     /note="SCL-interrupting locus protein N-terminus;
                     pfam15253"
                     /db_xref="CDD:434575"
     CDS             1..915
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /coded_by="XM_047428432.1:156..2903"
                     /db_xref="GeneID:6491"
                     /db_xref="HGNC:HGNC:10879"
                     /db_xref="MIM:181590"
ORIGIN      
        1 mepiypfarp qmntrfpssr mvpfhfppsk calwnptptg dfiylhlsyy rnpklvvtek
       61 tirlayrhak qnkknsscfl lgsltadede egvtltvdrf dpgrevpecl eitptaslpg
      121 dflipckvht qelcsremiv hsvddfssal kalqchicsk dsldcalarn lssnlnisqv
      181 qgtykygylt mdetrkllll lesdpkvysl plvgiwlsgi thiyspqvwa cclryifnss
      241 vqervfsesg nfiivlysmt hkepefyecf pcdgkipdfr fqlltsketl hlfknveppd
      301 knpircelsa esqnaeteff skasknfsik rssqklssgk mpihdhdsgv ededfsprpi
      361 psphpvsqki skiqpsvpel slvldgnfie snplptplem vnnenpplin hlehlkplqp
      421 qlydekhspe veagepslrg ipnqlnqdkp allrhckvrq ppaykkgnph trnsikpssh
      481 ngpshdifek lqtvsagnvq neeypirpst lnsrqsslap qsqphdfvfs phnsgrpmel
      541 qiptpplpsy cstnvcrccq hhshiqyspl nswqgantvg siqdvqseal qkhslfhpsg
      601 cpalycnafc sssspialrp qgdmgscsph sniepspvar ppshmdlcnp qpctvcmhtp
      661 ktesdngmmg lspdayrflt eqdrqlrllq aqiqrlleaq slmpcspktt avedtvqagr
      721 qmelvsveaq sspglhmrkg vsiavstgas lfwnaagedq epdsqmkqdd tkissedmnf
      781 svdinnevts lpgsasslka vdipsfeesn iaveeefnqp lsvsnsslvv rkepdvpvff
      841 psgqlaesvs mclqtgptgg asnnsetsee pkiehvmqpl lhqpsdnqki yqdllcvgmh
      901 qprssdlwik lhvic
//
LOCUS       XP_047287330             368 aa            linear   PRI 20-MAR-2023
DEFINITION  cell division cycle 7-related protein kinase isoform X5 [Homo
            sapiens].
ACCESSION   XP_047287330
VERSION     XP_047287330.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431374.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..368
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..368
                     /product="cell division cycle 7-related protein kinase
                     isoform X5"
                     /calculated_mol_wt=41022
     Region          56..>207
                     /region_name="STKc_Cdc7"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Cell Division Cycle 7 kinase; cd14019"
                     /db_xref="CDD:270921"
     Site            order(64..67,70,72,88,90,118,134..137,139,181..182,184,
                     196)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270921"
     CDS             1..368
                     /gene="CDC7"
                     /gene_synonym="CDC7L1; HsCDC7; Hsk1; huCDC7"
                     /coded_by="XM_047431374.1:867..1973"
                     /db_xref="GeneID:8317"
                     /db_xref="HGNC:HGNC:1745"
                     /db_xref="MIM:603311"
ORIGIN      
        1 measlgiqmd epmafspqrd rfqaegslkk neqnfklagv kkdieklyea vpqlsnvfki
       61 edkigegtfs svylataqlq vgpeekialk hliptshpir iaaelqcltv aggqdnvmgv
      121 kycfrkndhv viampylehe sfldilnsls fqevreymln lfkalkrihq fgivhrdvkp
      181 snflynrrlk kyalvdfgla qgthdtkiel lkfvqseaqq ercsqnkshi itgnkiplsg
      241 pvpkeldqqs ttkasvkrpy tnaqiqikqg kdgkegsvgl svqrsvfger nfnihssish
      301 espavklmkq sktvdvlsrk latkkkaist kvmnsavmrk tasscpaslt cdcyatdkvc
      361 siclsrlt
//
LOCUS       XP_005271340             333 aa            linear   PRI 20-MAR-2023
DEFINITION  proline/serine-rich coiled-coil protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_005271340
VERSION     XP_005271340.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005271283.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..333
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..333
                     /product="proline/serine-rich coiled-coil protein 1
                     isoform X2"
                     /calculated_mol_wt=35501
     Region          8..122
                     /region_name="GTSE1_N"
                     /note="G-2 and S-phase expressed 1; pfam15259"
                     /db_xref="CDD:434581"
     Region          <98..>333
                     /region_name="PRK07003"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:235906"
     CDS             1..333
                     /gene="PSRC1"
                     /gene_synonym="DDA3; FP3214"
                     /coded_by="XM_005271283.4:106..1107"
                     /db_xref="GeneID:84722"
                     /db_xref="HGNC:HGNC:24472"
                     /db_xref="MIM:613126"
ORIGIN      
        1 medleedvrf ivdetldfgg lspsdsreee ditvlvtpek plrrglshrs dpnavapapq
       61 gvrlslgpls pekleeilde anrlaaqleq calqdresag eglgprrvkp sprretfvlk
      121 dspvrdllpt vnsltrstps pssltprlrs ndrkgsvral ratsgkrpsn mkresptcnl
      181 fpaskspass pltrstppvr gragpsgraa aspptpirsv lapqpstsns qrlprpqgaa
      241 aksssqlpip saiprpasrm pltsrsvppg rgalppdsls trkglprpst aghrvresgh
      301 kvpvsqrlnl pvmgatrsnl qpprkvavpg ptr
//
LOCUS       XP_047289429            1194 aa            linear   PRI 20-MAR-2023
DEFINITION  period circadian protein homolog 3 isoform X15 [Homo sapiens].
ACCESSION   XP_047289429
VERSION     XP_047289429.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433473.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1194
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1194
                     /product="period circadian protein homolog 3 isoform X15"
                     /calculated_mol_wt=131191
     Region          284..376
                     /region_name="PAS"
                     /note="PAS domain; PAS motifs appear in archaea,
                     eubacteria and eukarya. Probably the most surprising
                     identification of a PAS domain was that in EAG-like
                     K+-channels. PAS domains have been found to bind ligands,
                     and to act as sensors for light and oxygen in...; cd00130"
                     /db_xref="CDD:238075"
     Site            order(287,291,297,310..313,342,347)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238075"
     Site            order(307,311,319,322..323,354,356)
                     /site_type="other"
                     /note="heme pocket [chemical binding]"
                     /db_xref="CDD:238075"
     Region          <748..1057
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          <1074..1175
                     /region_name="Period_C"
                     /note="Period protein 2/3C-terminal region; pfam12114"
                     /db_xref="CDD:432341"
     CDS             1..1194
                     /gene="PER3"
                     /gene_synonym="FASPS3; GIG13"
                     /coded_by="XM_047433473.1:588..4172"
                     /db_xref="GeneID:8863"
                     /db_xref="HGNC:HGNC:8847"
                     /db_xref="MIM:603427"
ORIGIN      
        1 mprgeapgpg rrgakdealg eesgerwspe fhlqrklads shseqqdrnr vseelimvvq
       61 emkkyfpser rnkpstldal nyalrcvhsv qanseffqil sqngapqadv smysleelat
      121 iasehtsknt dtfvavfsfl sgrlvhiseq aalilnrkkd vlasshfvdl lapqdmrvfy
      181 ahtaraqlpf wnnwtqraar yecapvkpff crirggedrk qekchspfri ipylihvhhp
      241 aqpelesepc cltvvekihs gyeapripvn krifttthtp gcvflevdek avpllgylpq
      301 dligtsilsy lhpedrslmv aihqkvlkya ghppfehspi rfctqngdyi ildsswssfv
      361 npwsrkisfi igrhkvrtsp lnedvfatki kkmndndkdi telqeqiykl llqpvhvsvs
      421 sgygslgssg sqeqlvsias sseasghrve etkaeqmtlq qvyasvnkik nlgqqlyies
      481 mtkssfkpvt gtrtepnggg ecktftsfhq tlknnsvyte pcedlrndeh spsyqqinci
      541 dsvirylksy nipalkrkci sctnttssss eedkqnhkad dvqalqaglq ipaipksemp
      601 tngrsidtgg gapqilstam lslgsgisqc gysstivhvp ppetardatl fcepwtlnmq
      661 papltseefk hvgltaavls ahtqkeeqny vdkfrekils spyssylqqe srskakysyf
      721 qgdstskqtr sagcrkgkhk rkklpeppds sssntgsgpr rgahqnaqpc cpsaasspht
      781 ssptfppaam vpsqapylvp afplpaatsp greyaapgta peglhglpls eglqpypafp
      841 fpyldtfmtv flpdppvcpl lspsflpcpf lgatassais psmssamspt ldpppsvtsq
      901 rreeekweaq seghpfitsr sssplqlnll qeemprpses pdqmrrntcp qteycvtgnn
      961 gsesspattg alstgsppre npshptasal stgsppmknp shptasalst gsppmknpsh
     1021 ptastlsmgl ppsrtpshpt atvlstgspp sespsrtgsa asgssdssiy ltssvysski
     1081 sqngqqsqdv qkketfpnva eepiwrmirq tperilmtyq vpervkevvl kedleklesm
     1141 rqqqpqfshg qkeelakvyn wiqsqtvtqe idiqvtltss nspalfffgg lchl
//
LOCUS       XP_047289767            1189 aa            linear   PRI 20-MAR-2023
DEFINITION  SPOC domain-containing protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047289767
VERSION     XP_047289767.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433811.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1189
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1189
                     /product="SPOC domain-containing protein 1 isoform X2"
                     /calculated_mol_wt=126969
     Region          594..704
                     /region_name="TFIIS_M"
                     /note="Transcription factor S-II (TFIIS), central domain;
                     pfam07500"
                     /db_xref="CDD:429495"
     Region          852..989
                     /region_name="SPOC_SPOCD1"
                     /note="SPOC (Spen paralog and ortholog C-terminal) domain
                     found in SPOC domain-containing protein 1 (SPOCD1) and
                     similar proteins; cd21540"
                     /db_xref="CDD:439203"
     CDS             1..1189
                     /gene="SPOCD1"
                     /gene_synonym="PPP1R146"
                     /coded_by="XM_047433811.1:102..3671"
                     /db_xref="GeneID:90853"
                     /db_xref="HGNC:HGNC:26338"
                     /db_xref="MIM:619038"
ORIGIN      
        1 msqagdvegp stgdpvlspq hncellqnme gassmpglsp dgpgassgpg vragsrrkip
       61 rkealrggss raagaaevrp gvlellavvq srgsmlapgl hmqlpsvptq graltskrlq
      121 vslcdildds cprklcsrsa glperalacr erlagveevs clrpreardg gmsspgcdrr
      181 sptlskeepp grpltsspdp vpvrvrkkwr rqgahsecee gagdflwldq sprgdnllsv
      241 gdppqvadle slggpcrpps pkdtgsgpge pggsgagcas gtekfgylpa tgdgpqpgsp
      301 cgpvgfpvps ggeslssaaq appqsaalcl gasaqasaeq qeavcvvrtg sdegqapaqd
      361 qeeleakaqp asrgrleqgl aapadtcass replgglsss ldteasracs gpfmeqrrsk
      421 gtknlkkgpv pcaqdrgtdr ssdnshqdrp eepspggcpr llgsgpviql lgaishgqag
      481 gqlppklevl edlmevssps paqrlrrkkr pmvqgpagcq vfqpspsggt agdpgglsdp
      541 fypprsgsla lgdpssdpac sqsgpmeaee dslpeqpeds aqlqqekpsl yigvrgtvvr
      601 smqevlwtrl relpdpvlse evvegiaagi eaalwdltqg tngryktkyr sllfnlrdpr
      661 nldlflkvvh gdvtpydlvr mssmqlapqe larwrdqeek rglniieqqq kepcrlpask
      721 mthkgeveiq rdmdqtltle dlvgpqmfmd cspqalpias edttgqhdhh fldpnchick
      781 dwepsnellg sfeaakscgd nifqkalsqt pmpapempkt relsptepqd rvppsglhvp
      841 aaptkalpcl ppwegvldmf sikrfraraq lvsghscrlv qalptvirsa gcipsnivwd
      901 llasicpaka kdvcvvrlcp hgardtqncr llysylndrq rhglasvehm gmvllplpaf
      961 qplptrlrpl ggpglevths slllavllpk eglpdtagss pwlgkvqkmv sfnskvekry
     1021 yqpddrrpnv plkgtpppgg awqqsqgrgs iaprgisawq rpprgrgrlw pepenwqhpg
     1081 rgqwppepgl rqsqhpysva paghgfgrgq hfhrdscphq allrhlesla tmshqlqall
     1141 cpqtkssipr plqrlssala apeppgpard sslgptdeag secpfprka
//
LOCUS       XP_011537757             121 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM241B isoform X2 [Homo sapiens].
ACCESSION   XP_011537757
VERSION     XP_011537757.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011539455.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..121
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..121
                     /product="protein FAM241B isoform X2"
                     /calculated_mol_wt=13107
     Region          62..>92
                     /region_name="DUF4605"
                     /note="Domain of unknown function (DUF4605); pfam15378"
                     /db_xref="CDD:434679"
     CDS             1..121
                     /gene="FAM241B"
                     /gene_synonym="C10orf35"
                     /coded_by="XM_011539455.3:676..1041"
                     /db_xref="GeneID:219738"
                     /db_xref="HGNC:HGNC:23519"
ORIGIN      
        1 mvrilangei vqdddprvrt ttqpprgsip rqsffnrghg appggpgprq qqagarlgaa
       61 qspfndlnrq lvnmgfpqwh lgnhavepvt silllfllmm lgvrglllvg lvylvshlsq
      121 r
//
LOCUS       XP_011517686             461 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X3 [Homo
            sapiens].
ACCESSION   XP_011517686
VERSION     XP_011517686.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011519384.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..461
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..461
                     /product="tRNA (cytosine(72)-C(5))-methyltransferase NSUN6
                     isoform X3"
                     /calculated_mol_wt=50735
     Region          101..194
                     /region_name="PUA_NSun6-like"
                     /note="PUA RNA-binding domain of the SAM-dependent
                     methyltransferase NSun6 and similar proteins; cd21150"
                     /db_xref="CDD:409292"
     Site            order(104,111,113..115,117..119,185..186,190..193)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:409292"
     Region          <207..457
                     /region_name="RsmB"
                     /note="16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF
                     family [Translation, ribosomal structure and biogenesis];
                     COG0144"
                     /db_xref="CDD:223222"
     CDS             1..461
                     /gene="NSUN6"
                     /gene_synonym="4933414E04Rik; ARL5B-AS1; NOPD1"
                     /coded_by="XM_011519384.2:438..1823"
                     /db_xref="GeneID:221078"
                     /db_xref="HGNC:HGNC:23529"
                     /db_xref="MIM:617199"
ORIGIN      
        1 mfhkrgkkng kfsivtalgk qeaerkfetl lkhlshppsf ttvrvnthla svqhvknlll
       61 delqkqfngl svpilqhpdl qdvllipvig prknikkqqc eaivgaqcgn avlrgahvya
      121 pgivsasqfm kagdvisvys dikgkckkga kefdgtkvfl gngiselsrk eifsglpelk
      181 yvirgmgirm tepvylspsf dsvlprylfl qnlpsalvsh vlnpqpgeki ldlcaapggk
      241 tthiaalmhd qgevialdki fnkvekikqn alllglnsir afcfdgtkav kldmvedteg
      301 eppflpesfd rilldapcsg mgqrpnmact wsvkevasyq plqrklftaa vqllkpegvl
      361 vystctitla eneeqvawal tkfpclqlqp qepqiggegm rgaglsceql kqlqrfdpsa
      421 vplpdtdmds lrearredml rlankdsigf fiakfvkcks t
//
LOCUS       XP_047280789            1037 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 26 isoform X13 [Homo
            sapiens].
ACCESSION   XP_047280789
VERSION     XP_047280789.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424833.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1037
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1037
                     /product="ankyrin repeat domain-containing protein 26
                     isoform X13"
                     /calculated_mol_wt=116385
     Region          9..>220
                     /region_name="PHA02875"
                     /note="ankyrin repeat protein; Provisional"
                     /db_xref="CDD:165206"
     Site            order(79,81,85..86,89..91,93..94,98,101,110,112,114,
                     118..119,122..124,126..127,131,134,143,145,147,151..152,
                     155..157,159..160,164,167,176)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          79..110
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          84..176
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          112..143
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          145..176
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          178..209
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..1037
                     /gene="ANKRD26"
                     /gene_synonym="bA145E8.1; THC2"
                     /coded_by="XM_047424833.1:169..3282"
                     /db_xref="GeneID:22852"
                     /db_xref="HGNC:HGNC:29186"
                     /db_xref="MIM:610855"
ORIGIN      
        1 mkkifskkge splgsfarrq rssaggggep gegaysqpgy hvrdrdlgki hkaasagnva
       61 kvqqilllrk nglndrdkmn rtalhlacan ghpevvtllv drkcqlnvcd nenrtalmka
      121 vqcqeekcat illehgadpn ladvhgntal hyavynedis vatklllyda nieaknkddl
      181 tplllavsgk kqqmveflik kkanvnavdk lesshqlise ykeeripkhs sqnsnsvdes
      241 sedslsrlsg kpgvddswpt sddedlnfdt knvpkpslak lmtasqqsrk nleatygtvr
      301 tgnrtlfedr dsdsqdevvv eslpttsikv qcfshptyqs pdllpkpshk slanpglmke
      361 eptkpgiakk engidiiesa pleqtnndnl tyvdevhknn rsdmmsalgl gqeediespw
      421 dsesisenfp qkyvdplaga adgkeknign eqaedvfyip scmsgsrnfk makledtrnv
      481 gmpvahmesp erylhlkpti emkdsvpnka ggmkdvqtsk aaehdlevas eeeqeregse
      541 nnqpqdkvil ktctltekts ekqnkqinrp lsclqkmsqe pelnkecdre dvsvysglpc
      601 vqndeemwtk qgklewknnl klitnelkqs cgetcekyki taspgeeslh dnskggtnlk
      661 eipssltnni ldcdekdspv svlfqalpeq kvlslengfs fpsysgspey acqssskpyl
      721 nenklghenv nkpdtehvfn tdenfyndte nkkvrnpevv tgvmkeefdk tknmnrnttn
      781 wkldirrvpq ysdpkrpfdl icskemnhmf hikrhsisag tdaykktkpi qnlfqkplyd
      841 hcsannyksm epelenvrss pprgdrtskv slkeelqqdm qrfkneigml kvefqaleke
      901 kvqlqkevee erkkhrnnem evsanihdga tddaeddddd dgliqkrksg etdhqqfprk
      961 enkeyassgp alqmkevkst ekekrtskes vnspvfgkas lltggllqvd ddsslseide
     1021 degrsktkys lwmmlmt
//
LOCUS       XP_005252748             700 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase epsilon isoform X6 [Homo
            sapiens].
ACCESSION   XP_005252748
VERSION     XP_005252748.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005252691.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..700
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..700
                     /product="receptor-type tyrosine-protein phosphatase
                     epsilon isoform X6"
                     /calculated_mol_wt=80511
     Region          165..393
                     /region_name="R-PTPc-E-1"
                     /note="catalytic domain of receptor-type tyrosine-protein
                     phosphatase E, repeat 1; cd14620"
                     /db_xref="CDD:350468"
     Region          480..689
                     /region_name="R-PTPc-E-2"
                     /note="catalytic domain of receptor-type tyrosine-protein
                     phosphatase E, repeat 2; cd14622"
                     /db_xref="CDD:350470"
     CDS             1..700
                     /gene="PTPRE"
                     /gene_synonym="HPTPE; PTPE; R-PTP-EPSILON"
                     /coded_by="XM_005252691.3:124..2226"
                     /db_xref="GeneID:5791"
                     /db_xref="HGNC:HGNC:9669"
                     /db_xref="MIM:600926"
ORIGIN      
        1 meplcplllv gfslplaral rgnettadsn ettttsgppd pgasqpllaw lllpllllll
       61 vlllaayffr frkqrkavvs tsdkkmpngi leeqeqqrvm llsrspsgpk kyfpipvehl
      121 eeeirirsad dckqfreefn slpsghiqgt felankeenr eknrypnilp ndhsrvilsq
      181 ldgipcsdyi nasyidgyke knkfiaaqgp kqetvndfwr mvweqksati vmltnlkerk
      241 eekchqywpd qgcwtygnir vcvedcvvlv dytirkfciq pqlpdgckap rlvsqlhfts
      301 wpdfgvpftp igmlkflkkv ktlnpvhagp ivvhcsagvg rtgtfivida mmammhaeqk
      361 vdvfefvsri rnqrpqmvqt dmqytfiyqa lleyylygdt eldvsslekh lqtmhgttth
      421 fdkigleeef rkltnvrimk enmrtgnlpa nmkkarviqi ipydfnrvil smkrgqeytd
      481 yinasfidgy rqkdyfiatq gplahtvedf wrmiwewksh tivmltevqe reqdkcyqyw
      541 ptegsvthge itieikndtl seaisirdfl vtlnqpqarq eeqvrvvrqf hfhgwpeigi
      601 paegkgmidl iaavqkqqqq tgnhpitvhc sagagrtgtf ialsnilerv kaeglldvfq
      661 avkslrlqrp hmvqtleqye fcykvvqdfi difsdyanfk
//
LOCUS       XP_016872535             428 aa            linear   PRI 20-MAR-2023
DEFINITION  N-acetylated-alpha-linked acidic dipeptidase 2 isoform X4 [Homo
            sapiens].
ACCESSION   XP_016872535
VERSION     XP_016872535.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017046.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..428
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..428
                     /product="N-acetylated-alpha-linked acidic dipeptidase 2
                     isoform X4"
                     /calculated_mol_wt=48022
     Region          86..>140
                     /region_name="Zinc_peptidase_like"
                     /note="Zinc peptidases M18, M20, M28, and M42; cl14876"
                     /db_xref="CDD:449370"
     Region          145..371
                     /region_name="PA_GCPII_like"
                     /note="Protease-associated domain containing protein,
                     glutamate carboxypeptidase II (GCPII)-like. This group
                     contains various PA domain-containing proteins similar to
                     GCPII including, GCPIII (NAALADase2) and NAALADase L.
                     These proteins belong to the peptidase...; cd02121"
                     /db_xref="CDD:239036"
     Site            order(189,278..280,282,288..291,294)
                     /site_type="other"
                     /note="apical/protease domain interface [polypeptide
                     binding]"
                     /db_xref="CDD:239036"
     Site            order(235,282)
                     /site_type="other"
                     /note="substrate binding [chemical binding]"
                     /db_xref="CDD:239036"
     Site            order(297..298,300,302)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:239036"
     CDS             1..428
                     /gene="NAALAD2"
                     /gene_synonym="GCP3; GCPIII; GPCIII"
                     /coded_by="XM_017017046.3:56..1342"
                     /db_xref="GeneID:10003"
                     /db_xref="HGNC:HGNC:14526"
                     /db_xref="MIM:611636"
ORIGIN      
        1 mafqdcrcrl qrrqsylspe arecsrrpkl gpqeamaesr grlylwmcla aalasflmgf
       61 mvgwfikplk etttsvryhq sirwklvsem kaeniksflr sftklphlag teqnfllakk
      121 iqtqwkkfgl dsaklvhydv llsypnetna nyisivdehe teifktsyle pppdgyenvt
      181 nivppynafs aqgmpegdlv yvnyartedf fkleremgin ctgkiviary gkifrgnkvk
      241 namlagaigi ilysdpadyf apevqpypkg wnlpgtaaqr gnvlnlngag dpltpgypak
      301 eytfrldvee gvgipripvh pigyndaeil lrylggiapp dkswkgalnv sysigpgftg
      361 sdsfrkvrmh vyninkitri ynvvgtirgs vepgmlfwev tgtpgylell tqpvgllfck
      421 klpgvlen
//
LOCUS       XP_011543296             582 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA-binding protein SMUBP-2 isoform X4 [Homo sapiens].
ACCESSION   XP_011543296
VERSION     XP_011543296.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544994.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..582
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..582
                     /product="DNA-binding protein SMUBP-2 isoform X4"
                     /calculated_mol_wt=63696
     Region          <5..230
                     /region_name="TIGR00376"
                     /note="DNA helicase, putative"
                     /db_xref="CDD:273041"
     Region          315..373
                     /region_name="R3H_Smubp-2_like"
                     /note="R3H domain of Smubp-2_like proteins. Smubp-2_like
                     proteins also contain a helicase_like and an AN1-like Zinc
                     finger domain and have been shown to bind single-stranded
                     DNA. The name of the R3H domain comes from the
                     characteristic spacing of the most...; cd02641"
                     /db_xref="CDD:100070"
     Site            order(344,348,358,367)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:100070"
     Site            order(344,348)
                     /site_type="other"
                     /note="RxxxH motif"
                     /db_xref="CDD:100070"
     Region          <375..434
                     /region_name="UPF0182"
                     /note="Uncharacterized protein family (UPF0182); cl42153"
                     /db_xref="CDD:455498"
     Region          486..523
                     /region_name="zf-AN1"
                     /note="AN1-like Zinc finger; pfam01428"
                     /db_xref="CDD:426260"
     CDS             1..582
                     /gene="IGHMBP2"
                     /gene_synonym="CATF1; CMT2S; HCSA; HMN6; SMARD1; SMUBP2;
                     ZFAND7"
                     /coded_by="XM_011544994.2:2705..4453"
                     /db_xref="GeneID:3508"
                     /db_xref="HGNC:HGNC:5542"
                     /db_xref="MIM:600502"
ORIGIN      
        1 maalaglsls lmerlaeeyg arvvrtltvq yrmhqaimrw asdtmylgql tahssvarhl
       61 lrdlpgvaat eetgvplllv dtagcglfel eeedeqskgn pgevrlvslh iqalvdagvp
      121 ardiavvspy nlqvdllrqs lvhrhpelei ksvdgfqgre keavilsfvr snrkgevgfl
      181 aedrrinvav trarrhvavi cdsrtvnnha flktlveyft qhgevrtafe ylddivpeny
      241 shensqgssh aatkpqgpat strtgsqrqe ggqeaaapar qgrkkpagks laseapsqps
      301 lnggspegve sqdgvdhfra mivefmaskk mqlefppsln shdrlrvhqi aeehglrhds
      361 sgegkrrfit vskraprpra algppagtgg paplqpvppt paqteqppre qrgpdqpdlr
      421 tlhlerlqrv rsaqgqpask eqqasgqqkl pekkkkkakg hpatdlptee dfealvsaav
      481 kadntcgfak ctagvttlgq fcqlcsrryc lshhlpeihg cgerarahar qrisregvly
      541 agsgtkngsl dpakraqlqr rldkklsels nqrtsrrker gt
//
LOCUS       XP_011518697            1267 aa            linear   PRI 20-MAR-2023
DEFINITION  myotubularin-related protein 13 isoform X2 [Homo sapiens].
ACCESSION   XP_011518697
VERSION     XP_011518697.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011520395.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1267
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1267
                     /product="myotubularin-related protein 13 isoform X2"
                     /calculated_mol_wt=141583
     Region          1..86
                     /region_name="uDENN"
                     /note="Domain always found upstream of DENN domain, found
                     in a variety of signalling proteins; smart00800"
                     /db_xref="CDD:214824"
     Region          117..298
                     /region_name="DENN"
                     /note="Domain found in a variety of signalling proteins,
                     always encircled by uDENN and dDENN; smart00799"
                     /db_xref="CDD:214823"
     Region          352..420
                     /region_name="dDENN"
                     /note="Domain always found downstream of DENN domain,
                     found in a variety of signalling proteins; smart00801"
                     /db_xref="CDD:129037"
     Region          530..754
                     /region_name="SBF2"
                     /note="Myotubularin protein; pfam12335"
                     /db_xref="CDD:432487"
     Region          882..1000
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          1138..>1254
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     CDS             1..1267
                     /gene="SBF2"
                     /gene_synonym="CMT4B2; DENND7B; MTMR13"
                     /coded_by="XM_011520395.4:151..3954"
                     /db_xref="GeneID:81846"
                     /db_xref="HGNC:HGNC:2135"
                     /db_xref="MIM:607697"
ORIGIN      
        1 marladyfiv vgydhekpgs geglgkiiqr fpqkdwddtp fpqgielfcq pggwqlsrer
       61 kqptffvvvl tdidsdrhyc scltfyeaei nlqgtkkeei egeakvsgli qpaevfapks
      121 lvlvsrlyyp eifraclgli ytvyvdslnv sleslianlc aclvpaaggs qklfslgagd
      181 rqliqtplhd slpitgtsva llfqqlgiqn vlslfcavlt enkvlfhsas fqrlsdacra
      241 leslmfplky sypyipilpa qllevlsspt pfiigvhsvf ktdvhelldv iiadldggti
      301 kipecihlss lpepllhqtq salslilhpd levadhafpp prtalshskm ldkevravfl
      361 rlfaqlfqgy rsclqlirih aepvihfhkt aflgqrglve ndfltkvlsg mafagfvser
      421 gppyrscdlf delvafever ikveennpvk mikhvrelae qlfknenpnp hmafqkvprp
      481 tegshlrvhi lpfpeinear vqeliqenva knqnappatr iekkcvvpag ppvvsimdkv
      541 ttvfnsaqrl evvrncisfi fenkiletek tlpaalralk gkaarqcltd elglhvqqnr
      601 aildhqqfdy iirmmnctlq dcssleeyni aaallpltsa fyrklapgvs qfaytcvqdh
      661 piwtnqqfwe ttfynavqeq vrslylsake dnhaphlkqk dklpddhyqe ktamdlaaeq
      721 lrlwptlsks tqqelvqhee stvfsqaihf anlmvnllvp ldtsknkllr tsapgdwesg
      781 snsivtnsia gsvaesydte sgfedsentd iansvvrfit rfidkvctes gvtqdhiksl
      841 hcmipgivam hietleavhr esrrlppiqk pkilrpallp geeivceglr vlldpdgree
      901 atggllggpq llpaegalfl ttyrilfrgt phdqlvgeqt vvrsfpiasi tkekkitmqn
      961 qlqqnmqegl qitsasfqli kvafdeevsp evveifkkql mkfrypqsif stfafaagqt
     1021 tpqiilpkqk ekntsfrtfs ktivkgakra gkmtigrqyl lkkktgtive ervnrpgwne
     1081 dddvsvsdes elptsttlka sekstmeqlv ekacfrdyqr lglgtisgss srsrpeyfri
     1141 tasnrmyslc rsypgllvvp qavqdsslpr varcyrhnrl pvvcwknsrs gtlllrsggf
     1201 hgkgvvglfk sqnspqaapt sslessssie qekylqalln avsvhqklrg nstltvrpaf
     1261 alspvim
//
LOCUS       XP_047283843             295 aa            linear   PRI 20-MAR-2023
DEFINITION  peroxisomal biogenesis factor 16 isoform X1 [Homo sapiens].
ACCESSION   XP_047283843
VERSION     XP_047283843.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427887.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 13% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..295
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..295
                     /product="peroxisomal biogenesis factor 16 isoform X1"
                     /calculated_mol_wt=33945
     Region          9..288
                     /region_name="Pex16"
                     /note="Peroxisomal membrane protein (Pex16); pfam08610"
                     /db_xref="CDD:430104"
     CDS             1..295
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /coded_by="XM_047427887.1:358..1245"
                     /db_xref="GeneID:9409"
                     /db_xref="HGNC:HGNC:8857"
                     /db_xref="MIM:603360"
ORIGIN      
        1 mhwvlksrvy sasnllvlln dgilrkelrk klpvslsqqk lltwlsvlec vevfmemgaa
       61 kvwgevgrwl vialvqlaka vlrmllllwf kaglqtsppi vpldretqaq ppdgdhspgn
      121 heqsyvgkrs nrvvrtlqnt pslhsrhwga pqqregrqqq hheelsatpt plglqetiae
      181 flyiarpllh llslglwgqr swkpwllagv vdvtslslls drkgltrrer relrrrtill
      241 lyyllrspfy drfsearilf llqlladhvp gvglvtrplm dylptwqkiy fyswg
//
LOCUS       XP_047285359            1729 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase WNK1 isoform X47 [Homo sapiens].
ACCESSION   XP_047285359
VERSION     XP_047285359.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429403.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1729
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1729
                     /product="serine/threonine-protein kinase WNK1 isoform
                     X47"
                     /calculated_mol_wt=181410
     Region          <28..76
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          93..156
                     /region_name="OSR1_C"
                     /note="Oxidative-stress-responsive kinase 1 C-terminal
                     domain; pfam12202"
                     /db_xref="CDD:432397"
     Region          <920..1214
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..1729
                     /gene="WNK1"
                     /gene_synonym="HSAN2; HSN2; KDP; p65; PPP1R167; PRKWNK1;
                     PSK"
                     /coded_by="XM_047429403.1:270..5459"
                     /db_xref="GeneID:65125"
                     /db_xref="HGNC:HGNC:14540"
                     /db_xref="MIM:605232"
ORIGIN      
        1 mdikkkdfcs vfviinshcc ccpqkdcine gvkpasfdkv aipevkeiie gcirqnkder
       61 ysikdllnha ffqeetgvrv elaeeddgek iaiklwlrie dikklkgkyk dneaiefsfd
      121 lerdvpedva qemvesgyvc egdhktmaka ikdrvslikr kreqrqlvre eqekkkqees
      181 slkqqveqss asqtgikqlp sastgiptas ttsasvstqv epeepeadqh qqlqyqqpsi
      241 svlsdgtvds gqgssvftes rvssqqtvsy gsqheqahst gtvpghipst vqaqsqphgv
      301 yppssvaqgq sqgqpssssl tgvsssqpiq hpqqqqgiqq tappqqtvqy slsqtstsse
      361 attaqpvsqp qapqvlpqvs agkqstqgvs qvapaepvav aqtqatqptt lassvdsahs
      421 dvasgmsdgn envpsssgrh egrttkrhyr ksvrsrsrhe ktsrpklril nvsnkgdrvv
      481 ecqlethnrk mvtfkfdldg dnpeeiatim vnndfilaie resfvdqvre iiekademls
      541 edvsvepegd qgleslqgkd dygfsgsqkl egefkqpipa ssmpqqigip tssltqvvhs
      601 agrrfivspv pesrlreskv fpseitdtva astaqspgmn lshsasslsl qqafselrra
      661 qmtegpntap pnfshtgptf pvvppflssi agvpttaaat apvpatsspp ndistsviqs
      721 evtvpteegi agvatstgvv tsgglpippv sespvlssvv ssitipavvs isttspslqv
      781 ptstseivvs stalypsvtv satsasaggs tatpgpkppa vvsqqaagst tvgatltsvs
      841 tttsfpstas qlciqlssst stptlaetvv vsahsldkts hssttglafs lsapsssssp
      901 gagvssyisq pgglhplvip sviastpilp qaagptstpl lpqvpsippl vqpvanvpav
      961 qqtlihsqpq pallpnqpht hcpevdsdtq pkapgiddik tleeklrslf sehsssgaqh
     1021 asvsletslv iestvtpgip ttavapskll tsttstclpp tnlplgtval pvtpvvtpgq
     1081 vstpvsttts gvkpgtapsk ppltkapvlp vgtelpagtl pseqlppfpg psltqsqqpl
     1141 edldaqlrrt lspemitvts avgpvsmaap taiteagtqp qkgvsqvkeg pvlatssgag
     1201 vfkmgrfqvs vaadgaqkeg knksedaksv hfesstsess vlsssspest lvkpepngit
     1261 ipgissdvpe sahkttasea ksdtgqptkv grfqvtttan kvgrfsvskt edkitdtkke
     1321 gpvasppfmd leqavlpavi pkkekpelse pshlngpssd peaaflsrdv ddgsgsphsp
     1381 hqlsskslps qnlsqslsns fnssymssdn esdiededlk lelrrlrdkh lkeiqdlqsr
     1441 qkheieslyt klgkvppavi ippaaplsgr rrrptkskgs kssrssslgn kspqlsgnls
     1501 gqsaasvlhp qqtlhppgni pesgqnqllq plkpspssdn lysaftsdga isvpslsapg
     1561 qgtsstntvg atvnsqaaqa qppamtssrk gtftddlhkl vdnwardamn lsgrrgskgh
     1621 mnyegpgmar kfsapgqlci smtsnlggsa pisaasatsl ghftksmcpp qqygfpatpf
     1681 gaqwsgtggp apqplgqfqp vgtaslqnfn isnlqksisn ppgsnlrtt
//
LOCUS       XP_047285573             543 aa            linear   PRI 20-MAR-2023
DEFINITION  cysteine/serine-rich nuclear protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047285573
VERSION     XP_047285573.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429617.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..543
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..543
                     /product="cysteine/serine-rich nuclear protein 2 isoform
                     X1"
                     /calculated_mol_wt=59460
     Region          62..279
                     /region_name="CSRNP_N"
                     /note="Cysteine/serine-rich nuclear protein N-terminus;
                     pfam16019"
                     /db_xref="CDD:435075"
     CDS             1..543
                     /gene="CSRNP2"
                     /gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
                     TAIP-12"
                     /coded_by="XM_047429617.1:1232..2863"
                     /db_xref="GeneID:81566"
                     /db_xref="HGNC:HGNC:16006"
ORIGIN      
        1 mdaftgsglk rkfddvdvgs svsnsddeis ssdsadscds lnppttasft ptsilkrqkq
       61 lrrknvrfdq vtvyyfarrq gftsvpsqgg sslgmaqrhn svrsytlcef aqeqevnhre
      121 ilrehlkeek lhakkmkltk ngtvesvead gltlddvsde didvenvevd dyfflqplpt
      181 krrrallras gvhridaeek qelrairlsr eecgcdcrly cdpeacacsq agikcqvdrm
      241 sfpcgcsrdg cgnmagrief npirvrthyl htimkleles krqvsrpaap deepsptasc
      301 sltgaqgset qdfqefiaen etavmhlqsa eelerlkaee dssgssasld ssieslgvci
      361 leeplavpee lcpgltapil iqaqlppgss vlcftensdh ptastvnsps ylnsgplvyy
      421 qveqrpvlgv kgepgteegs asfpkekdln vfslpvtslv acsstdpaal cksevgktpt
      481 leallpedcn peepenedfh pswspsslpf rtdneegcgm vktsqqnedr ppedsslelp
      541 lav
//
LOCUS       XP_011533344            1001 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase LATS2 isoform X2 [Homo sapiens].
ACCESSION   XP_011533344
VERSION     XP_011533344.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011535042.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1001
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..1001
                     /product="serine/threonine-protein kinase LATS2 isoform
                     X2"
                     /calculated_mol_wt=110705
     Region          <24..54
                     /region_name="UBA_like_SF"
                     /note="UBA domain-like superfamily; cl21463"
                     /db_xref="CDD:451254"
     Region          <71..373
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          498..580
                     /region_name="MobB_LATS2"
                     /note="Mob-binding domain found in large tumor suppressor
                     homolog 2 (LATS2); cd21777"
                     /db_xref="CDD:439272"
     Site            order(515..516,518..520,522,527,530,533,537,562,566..567,
                     569..571,573)
                     /site_type="other"
                     /note="putative Mob binding site [polypeptide binding]"
                     /db_xref="CDD:439272"
     Region          579..959
                     /region_name="STKc_LATS2"
                     /note="Catalytic domain of the Protein Serine/Threonine
                     Kinase, Large Tumor Suppressor 2; cd05626"
                     /db_xref="CDD:173715"
     Site            order(587..591,595,608,610,642,658..659,661,665,667,704,
                     706,708..709,711,721..722,725,786..791,818,824,827)
                     /site_type="active"
                     /db_xref="CDD:173715"
     Site            order(587..591,595,608,610,642,659..661,665,704,706,
                     708..709,711,721..722)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:173715"
     Site            order(591,665,667,704,706,708,725,786..791,818,824,827)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:173715"
     Site            order(721..733,781..791)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:173715"
     Site            950..955
                     /site_type="other"
                     /note="hydrophobic motif (HM)"
                     /db_xref="CDD:173715"
     CDS             1..1001
                     /gene="LATS2"
                     /gene_synonym="KPM"
                     /coded_by="XM_011535042.3:84..3089"
                     /db_xref="GeneID:26524"
                     /db_xref="HGNC:HGNC:6515"
                     /db_xref="MIM:604861"
ORIGIN      
        1 mqrygcrers lersprlerh cppgalqema gralkqtgsr sieaaleyis kmgyldprne
       61 qivrvikqts pgkglmptpv trrpsfegtg dsfasyhqls gtpyegpsfg adgptaleem
      121 prpyvdylfp gvgphgpghq hqhppkgyga sveaagahfp lqgahygrph llvpgeplgy
      181 gvqrspsfqs ktppetggya slptkgqggp pgaglafppp aaglyvphph hkqagpaahq
      241 lhvlgsrsqv fasdsppqsl ltpsrnslnv dlyelgstsv qqwpaatlar rdslqkpgle
      301 apprahvafr pdcpvpsrtn sfnshqprpg ppgkaepslp apntvtavta ahilhpvksv
      361 rvlrpepqta vgpshpawvp apapapapap apaaegldak eehalalgga gafpldveyg
      421 gpdrrcpppp ypkhlllrsk seqydldslc agmeqslrag pnepeggdks rksakgdkgg
      481 kdkkqiqtsp vpvrknsrde ekresriksy spyafkffme qhvenvikty qqkvnrrlql
      541 eqemakaglc eaeqeqmrki lyqkesnynr lkrakmdksm fvkiktlgig afgevclack
      601 vdthalyamk tlrkkdvlnr nqvahvkaer dilaeadnew vvklyysfqd kdslyfvmdy
      661 ipggdmmsll irmevfpehl arfyiaeltl aiesvhkmgf ihrdikpdni lidldghikl
      721 tdfglctgfr wthnskyyqk gshvrqdsme psdlwddvsn crcgdrlktl eqrarkqhqr
      781 clahslvgtp nyiapevllr kgytqlcdww svgvilfeml vgqppflapt ptetqlkvin
      841 wentlhipaq vklspeardl itklccsadh rlgrngaddl kahpffsaid fssdirkqpa
      901 pyvptishpm dtsnfdpvde espwndaseg stkawdtlts pnnkhpehaf yeftfrrffd
      961 dngypfrcpk psgaeasqae ssdlessdlv dqtegcqpvy v
//
LOCUS       XP_047287014            1619 aa            linear   PRI 20-MAR-2023
DEFINITION  echinoderm microtubule-associated protein-like 5 isoform X16 [Homo
            sapiens].
ACCESSION   XP_047287014
VERSION     XP_047287014.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431058.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1619
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1619
                     /product="echinoderm microtubule-associated protein-like 5
                     isoform X16"
                     /calculated_mol_wt=180398
     Region          <3..49
                     /region_name="HELP"
                     /note="HELP motif; pfam03451"
                     /db_xref="CDD:427302"
     Region          57..353
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(60,78,82,90..91,104..105,123,127,135..136,148..149,
                     167,177..178,193,212,217,223,234,236,252,256,262..263,
                     281..282,297,302,306..307,322..323,342,346,352..353)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          64..104
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          110..148
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          153..201
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          203..233
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          228..592
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(236,252,256,262..263,280..281,298,302,309..310,
                     322..323,341,346,352..353,382,387,393..394,406..407,425,
                     429,435..436,449..450,534,539,545..546,561..562,580,585,
                     591..592)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          240..273
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          286..321
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          328..352
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          369..401
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          411..451
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          521..564
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <669..715
                     /region_name="HELP"
                     /note="HELP motif; pfam03451"
                     /db_xref="CDD:427302"
     Region          725..1063
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(726,744,750,756..757,769..770,789,793,801..802,
                     814..815,834,839,843..844,862,879,884,890,901..902,918,
                     922,928..929,995..996,1014,1019,1025..1026,1038..1039,
                     1057,1061)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          730..769
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          776..814
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          819..861
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          895..1140
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          907..939
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          941..994
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1002..1037
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1043..1078
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1085..1122
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1193..1235
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <1363..1410
                     /region_name="HELP"
                     /note="HELP motif; pfam03451"
                     /db_xref="CDD:427302"
     Region          <1418..>1556
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          1438..1473
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1480..1518
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1526..1566
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..1619
                     /gene="EML5"
                     /gene_synonym="EMAP-2; EMAP-5; FAP16"
                     /coded_by="XM_047431058.1:451..5310"
                     /db_xref="GeneID:161436"
                     /db_xref="HGNC:HGNC:18197"
                     /db_xref="MIM:618119"
ORIGIN      
        1 maarsapsch lrlewvygyr ghqcrnnlyy taakeivyfv agvgvvyspr ehrqkfyrgh
       61 sddiislalh pervlvatgq vgkepyiciw dsytvqtisv lkdvhthgia clafdldgqr
      121 lvsvgldskn avcvwdwkrg kmlsmapght drifdiswdl yqpnklvscg vkhikfwslc
      181 gnaltpkrgv fgktgdlqti lclacardel tysgalngdi yvwkginlir tiqgahaagi
      241 fsmnaceegf atggrdgcir lwdltfkpit vidlretdqg ykglsvrsvc wrgdhilvgt
      301 qdseifeivv qernkpflim qghcegelwa lavhptkpla vtgsddrsvr iwslvdhali
      361 arcnmeepir caavnadgih lalgmkdgsf tvlrvrdmte vvhikdrkea ihelkyspdg
      421 tylavgcnds svdiygvaqr ykkvgeclgs lsfithldws sdsrylqtnd gngkrlfyrm
      481 pggkevtste eikgvhwasw tcvsglevng iwpkysdind insvdgnyig qvlvtaddyg
      541 iiklfrypcl rkgakfrkyi ghsahvtnvr wshdyqwvis iggadhsvfq wkfiperklk
      601 davhiapqes ladshsdesd sdlsdvpeld seieqetqlt yrrqvykedl pqlkeqckek
      661 qksatskrre rapgnsirlh fvhgyrgydc rsnlfytqig eivyhvaavg viynrqqntq
      721 rfylghdddi lcltihplkd yvatgqvgrd psihiwdtet ikplsilkgh hqygvsavdf
      781 sadgkrlasv giddshtvvl wdwkkgekls iargskdkif vvkmnpyvpd klitagikhm
      841 kfwrkagggl igrkgyigtl gkndtmmcav ygwteemafs gtstgdvciw rdiflvktvk
      901 ahdgpvfsmh alekgfvtgg kdgivalwdd sferclktya ikraalapgs kglllednps
      961 iraislghgh ilvgtkngei levdksgpit llvqghmege vwglathpyl picatvsddk
     1021 tlriwdlsps hcmlavrklk kggrcccfsp dgkalavgln dgsflmanad tledlvsfhh
     1081 rkdmisdirf spgsgkylav ashdsfidiy nvmsskrvgi ckgatsyith idwdirgkll
     1141 qvntgakeql ffeaprgkkq tipsveveki awaswtsvlg lccegiwpvi gevtdvtasc
     1201 ltsdkmvlat gddlgfvklf ryptkgkfgk fkryvahsth vtnvrwtydd smlvtlggtd
     1261 mslmvwtnem egyrekrpcd seesdidsee dggydsdvtr eneisytira lstnirpmlg
     1321 ikphlqqkep siderqgvvr gsrppvsrap pqpeklqtnn vgkkkrpied lvlelifgyr
     1381 grdcrnnvhy lndgddiiyh tasvgilhnv atgsqsfyqe hnddilcltv nqhpkfiniv
     1441 atgqvgdsad msatapsihi wdamnkqtls ilrcyhskgv csvsfsatgk lllsvgldpe
     1501 htitiwrwqe gakiasragh nqrifvaefr pdsdtqfvsv gvkhvkfwtl agrallskkg
     1561 llstledarm qtmlaiafga vpsvvmsvcg kitycveswr elttglclpc tppcemdls
//
LOCUS       XP_047287835             349 aa            linear   PRI 20-MAR-2023
DEFINITION  Y+L amino acid transporter 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047287835
VERSION     XP_047287835.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431879.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..349
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..349
                     /product="Y+L amino acid transporter 1 isoform X2"
                     /calculated_mol_wt=38931
     Region          <4..331
                     /region_name="2A0308"
                     /note="L-type amino acid transporter; TIGR00911"
                     /db_xref="CDD:273332"
     CDS             1..349
                     /gene="SLC7A7"
                     /gene_synonym="LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1"
                     /coded_by="XM_047431879.1:159..1208"
                     /db_xref="GeneID:9056"
                     /db_xref="HGNC:HGNC:11065"
                     /db_xref="MIM:603593"
ORIGIN      
        1 myflclltfi ncayvkwgtl vqdiftyakv laliavivag ivrlgqgast hfensfegss
       61 favgdialal ysalfsysgw dtlnyvteei knpernlpls igismpivti iyiltnvayy
      121 tvldmrdila sdavavtfad qifgifnwii plsvalscfg glnasivaas rlffvgsreg
      181 hlpdaicmih verftpvpsl lfngimaliy lcvedifqli nyysfsywff vglsivgqly
      241 lrwkepdrpr plklsvffpi vfclctiflv avplysdtin sligiaials glpfyfliir
      301 vpehkrplyl rrivgsatry lqvlcmsvaa emdledggem pkqrdpksn
//
LOCUS       XP_011520133            4705 aa            linear   PRI 20-MAR-2023
DEFINITION  stAR-related lipid transfer protein 9 isoform X1 [Homo sapiens].
ACCESSION   XP_011520133
VERSION     XP_011520133.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521831.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4705
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..4705
                     /product="stAR-related lipid transfer protein 9 isoform
                     X1"
                     /calculated_mol_wt=516694
     Region          2..391
                     /region_name="KISc_KIF1A_KIF1B"
                     /note="Kinesin motor domain, KIF1_like proteins; cd01365"
                     /db_xref="CDD:276816"
     Site            order(11,103,106,108..111,253)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276816"
     Site            order(337,340,343)
                     /site_type="other"
                     /note="microtubule interaction site [polypeptide binding]"
                     /db_xref="CDD:276816"
     Region          390..501
                     /region_name="Kinesin_assoc"
                     /note="Kinesin-associated; pfam16183"
                     /db_xref="CDD:435195"
     Region          471..589
                     /region_name="FHA_KIF16A_STARD9"
                     /note="forkhead associated (FHA) domain found in
                     StAR-related lipid transfer protein 9 (StARD9); cd22731"
                     /db_xref="CDD:438783"
     Region          4496..4705
                     /region_name="START_STARD9-like"
                     /note="C-terminal START domain of mammalian STARD9, and
                     related domains; lipid binding; cd08874"
                     /db_xref="CDD:176883"
     Site            order(4522..4523,4530,4542,4544,4555,4559,4565,4568..4569,
                     4571..4572,4591,4593..4596,4600,4603,4605,4607,4627,4645,
                     4647..4650,4652,4667,4669,4671,4673,4675,4677,4680,
                     4682..4684,4688..4689,4693..4694,4697)
                     /site_type="other"
                     /note="putative lipid binding site [chemical binding]"
                     /db_xref="CDD:176883"
     CDS             1..4705
                     /gene="STARD9"
                     /gene_synonym="KIF16A"
                     /coded_by="XM_011521831.4:111..14228"
                     /db_xref="GeneID:57519"
                     /db_xref="HGNC:HGNC:19162"
                     /db_xref="MIM:614642"
ORIGIN      
        1 manvqvavrv rplskretke ggriivevdg kvakirnlkv dnrpdgfgds rekvmafgfd
       61 ycywsvnped pqyasqdvvf qdlgmevlsg vakgyniclf aygqtgsgkt ytmlgtpasv
      121 gltpricegl fvrekdcasl psscrikvsf leiynervrd llkqsgqkks ytlrvrehpe
      181 mgpyvqglsq hvvtnykqvi qlleegianr itaathvhea ssrshaifti hytqailenn
      241 lpsemaskin lvdlagsera dpsyckdria eganinkslv tlgivistla qnsqvfsscq
      301 slnssvsngg dsgilsspsg tssggapsrr qsyipyrdsv ltwllkdslg gnsktimvat
      361 vspahtsyse tmstlryass akniinkprv nedanlklir elreeierlk alllsfelrn
      421 fsslsdenlk elvlqnelki dqltkdwtqk wndwqalmeh ysvdinrrra gvvidsslph
      481 lmaleddvls tgvvlyhlke gttkigrids dqeqdivlqg qwierdhcti tsacgvvvlr
      541 pargarctvn grevtascrl tqgavitlgk aqkfrfnhpa eaavlrqrrq vgeaaagrgs
      601 lewldldgdl aasrlglspl lwkerralee qcdedhqtpr dgetshraqi qqqqsyvedl
      661 rhqilaeeir aakelefdqa wisqqikenq qcllreetwl aslqqqqqed qvaekeleas
      721 valdawlqtd peiqpspfvq sqkrvvhlql lrrhtlraae rnvrrkkvsf qleriikkqr
      781 lleaqkrlek lttlcwlqdd stqeppyqvl spdatvprpp crskltscss lspqrlcskh
      841 mpqlhsifls wdpsttlppr pdpthqtsek tsseehlpqa asypartgcl rknglhssgh
      901 gqpctaraal arkgasapda cltmspnsvg iqememgvkq phqmvsqgla slrksanklk
      961 prhepkifts ttqtrgakgl adpshtqagw rkegnlgthk aakgascnsl yphgprqtag
     1021 hgkavktfwt eykppspsra skrhqrvlat rvrnitkkss hlplgsplkr qqntrdpdtm
     1081 vpltdfspvm dhsrekdndl sdtdsnysld slscvyakal ieplkpeerk wdfpepense
     1141 sddsqlseds laekryqspk nrlggnrptn nrgqprtrtr asvrgftaas dsdllaqthr
     1201 sfsldslida eeelgedqqe epfpgsadei ptetfwhled sslpvmdqea icrlgpinyr
     1261 taarldavlp msssfyldpq fqphcelqph celqphcelq phceqaesqv epsyseqads
     1321 lqgmqlsres plmsmdswfs cdskinpssp pgivgslcps pdmqefhsck gerpgywpnt
     1381 eelkpsdaet vlpyssklhq gstellcsar dehtasaadt srlslwgiqr liqpgadgtf
     1441 qgrcipdmtq qgsseashns svsnvlaasa ttlthvgsth erdwsalqqk yllelscpvl
     1501 eaigapkpay pyleedsgsl aqasskggdt llpvgprvss nlnlnnfpvh lsrirrlrae
     1561 keqdslnakl egvsdffsts ekeasydety sadleslsas rstnaqvfat enaipdsmte
     1621 acevkqnnle eclqscrkpg lmtssdedff qknachsnvt tatkadhwsq gwaplrknsa
     1681 vqpgqlspds hypleeektd cqesskeavr rhinvsfalp sgpelylhsa pwnplssslq
     1741 pplletfyvt ksrdalteta leipacrevr vpspppreaw gfghnhqalq gaylknnlpv
     1801 llqnqnskia ssqqvtaeip vdlntrevir esgkcpgnit eeshdsvyss vtqnrhflps
     1861 tstkvcefen qvvilnkkhs fpaleggevt aqsccgassd stesgksllf researeeee
     1921 ldqntvlrqt invslekdmp gesavslksr svdrrvsspv mvaqgggptp kwegknetgl
     1981 lekglrpkds seefklpgtk payerfqlva cpqernpsec ksqemlnpnr epsgkkqnkr
     2041 vnntdemarl irsvmqleng ileieskqnk qvhashtpgt dkelvfqdqk eqektdhafr
     2101 pdssgnplps kdqpssprqt ddtvfrdsea gamevnsign hpqvqkitpn pfrsregvre
     2161 sepvrehthp agsdrpardi cdslgkhttc reftntslhp qrmkalaral plqprlerss
     2221 knngqfvkas aslkgqpwgl gsleeletvk gfqesqvaeh vsssnqeepk aqgkveempm
     2281 qrggslqeen kvtqkfpsls qlcrdtffrq etvspllsrt efctaplhqd lsntlplnsp
     2341 rwprrclhvp valgissldc vldltmlkih nsplvtgveh qdqstetrsh spegnvrgrs
     2401 seahtawcgs vrsmamgshs qsgvpesipl gtedrisast spqdhgkdlr itllgfstse
     2461 dfaseaevav qkeirvssln kvssqpekrv sfsleedsdq askprqkaek etedvgltsg
     2521 vslapvslpr vpspeprlle psdhasmcla ileeirqaka qrkqlhdfva rgtvlsycet
     2581 llepecssrv agrpqckqid qsssdqtrne geapgfhvas lsaeagqidl lpderkvqat
     2641 slsadsfesl pntetdrepw dpvqafshaa paqdrkrrtg elrqfagase pfichsssse
     2701 iiekkkdatr tpssadplap dsprssapve evrrvvskkv vaalpsqapy ddprvtlhel
     2761 sqsvpqetae gippgsqdss pehqeprtld ttygevsdnl lvtaqgekta hfesqsvtcd
     2821 vqnstsasgp kqdhvqcpea stgfeegras pkqdtilpga ltrvaleapt qqcvqckesv
     2881 gsgltevcra gskhsrpipl pdqrpsanpg gigeeapcrh prealdgpvf srnpegsrtl
     2941 spsrgkesrt lpcrqpcssq pvathayssh sstllcfrdg dlgkepfkaa phtihppcvv
     3001 psrayemdet geisrgpdvh lthglepkdv nrefrltess tcepstvaav lsraqgcrsp
     3061 sapdvrtgsf shsatdgsvg ligvpekkva ekqastelea asfpagmyse plrqfrdssv
     3121 gdqnaqvcqt npeppattqg phtldlsegs aesklvvepq heclenttrc flekpqfste
     3181 lrdhnrldsq akfvarlkht cspqedspwq eeeqhrdqas gggegfaqgv nplpdedgld
     3241 gcqildagre evavakppvs kilsqgfkdp atvslrqnet pqpaaqrsgh lytgreqpap
     3301 nhrgslpvtt ifsgpkhsrs sptpqfsvvg ssrslqelnl sveppsptde dtqgpnrlwn
     3361 phlrgyssgk svartslqae dsnqkassrl ddgttdhrhl kpatppypmp stlshmptpd
     3421 fttswmsgtl eqaqqgkrek lgvqvrpenw csqmdkgmlh fgssdispya lpwrpeepar
     3481 iswkqymsgs avdvscsqkp qgltlsnvar cssmdngled qnspfhshls tyanicdlst
     3541 thsstenaqg sneawevfrg sssialgdph iptspegvap tsghdrrpqf rgpsgeadcl
     3601 rskpplakgs aagpvdeiml lypseagcpv gqtrtntfeq gtqtlgsrrh wsstdisfaq
     3661 peasavsafd laswtsmhnl slhlsqllhs tsellgslsq pdvarreqnt krdipdkapq
     3721 almmdgstqt tvdegsqtdl tlptlclqts eaepqganvi leglgsdtst vsqeegdvpg
     3781 vpqkreaeet aqkmaqllyl qeestpykpq spsipsshlr fqkapvgqhl psvspsvsda
     3841 flppssqpee syclvvssps pssphspglf pstseypgds rvqkklgpts alfvdrassp
     3901 iltlsastqe pglspgsltl sapsthpveg hqkldsspdp vdaprtpmdn ysqttdelgg
     3961 sqrgrsslqr sngrsflelh sphspqqspk lqfsflgqhp qqlqprttig vqsrllpppl
     4021 rhrsqrlgns fvpekvaspe hcplsgreps qwqsrtengg essaspgepq rtldrpsswg
     4081 glqhlspcpv seltdtaglr gsalglpqac qpeellcfsc qmcmapehqh hslrdlpvhn
     4141 kfsnwcgvqk gspggldmte eelgasgdls sekqeqsppq ppndhsqdse wskreqiplq
     4201 vgaqnlslsv elteaklhhg fgeadallqv lqsgtgeala adepvtstwk elyarqkkai
     4261 etlrreraer lgnfcrtrsl spqkqlsllp nkdlfiwdld lpsrrreylq qlrkdvvett
     4321 rspesvsrsa htpsdielml qdyqqaheea kveiarardq lrerteqekl rihqkiisql
     4381 lkeedklhtl anssslctss ngslssgmts gynsspalsg qlqfpenmgh tnlpdsrdvw
     4441 igdergghsa vrknsayshr aslgscccsp sslsslgtcf sssyqdlakh vvdtsmadvm
     4501 aacsdnlhnl fscqatagwn yqgeeqavql yykvfsptrh gflgagvvsq plsrvwaavs
     4561 dptvwplyyk piqtarlhqr vtnsislvyl vcnttlcalk qprdfccvcv eakevpalvg
     4621 hlsvmaaqsv ydtsmprpsr kmvrgeilps awilqpitve gkevtrviyl aqvelgapgf
     4681 ppqllssfik rqplviarla sflgr
//
LOCUS       XP_047288908             542 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 23 isoform X1 [Homo sapiens].
ACCESSION   XP_047288908
VERSION     XP_047288908.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432952.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..542
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..542
                     /product="tetratricopeptide repeat protein 23 isoform X1"
                     /calculated_mol_wt=60776
     Region          102..131
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          112..398
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          152..180
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(153,156..157,160..161,163,202,205..206,209..210,
                     212..213,244,247..248,251..252,255)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          200..230
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          201..269
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     Region          243..269
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          329..401
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     CDS             1..542
                     /gene="TTC23"
                     /gene_synonym="HCC-8"
                     /coded_by="XM_047432952.1:510..2138"
                     /db_xref="GeneID:64927"
                     /db_xref="HGNC:HGNC:25730"
ORIGIN      
        1 mlckywhted nvyknmqesq ethisnhlde vvaavsithr kkfqnkllqt alfqpprekl
       61 hlceekaksy snsheykqav helvrcvalt ricygdshwk laeahvnlaq gylqlkglsl
      121 qakqhaekar qilansivpp ysentdvfkf sielfhtmgr allslqkfke aaenltkaer
      181 lskellqcgr iikeewieie arirlsfaqv yqgqkkskea lshyqaaley veiskgetsr
      241 ecvpilrela gveqalglhd vsinhflqah liilsrspsq veaadsahiv ahaavasgrh
      301 ehhdvaeqyf qesmahlkds egmgrtkfls iqdefchflq mtgqkerats ilresleakv
      361 eafgdfspev aetyrllgga dlaqgnhsga rkklkkaitr atfknrnwsp ssdpsehpnq
      421 rsvtrrhprs mlipsqqglr mrssfshsre tlvscsqrhf hslmiaawcs tvspdpdpli
      481 wtagqkdsgh paghghavhg pqgcfeakag iksqsgllhq hpsghpageg parhnsrlrp
      541 pp
//
LOCUS       XP_016878127             534 aa            linear   PRI 20-MAR-2023
DEFINITION  CD276 antigen isoform X1 [Homo sapiens].
ACCESSION   XP_016878127
VERSION     XP_016878127.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017022638.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..534
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..534
                     /product="CD276 antigen isoform X1"
                     /calculated_mol_wt=57105
     Region          32..142
                     /region_name="IgV_B7-H3"
                     /note="Immunoglobulin Variable (IgV) domain of B7-H3, a
                     member of the B7 family of immune checkpoint molecules;
                     cd20934"
                     /db_xref="CDD:409528"
     Region          32..51
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409528"
     Region          32..35
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409528"
     Region          37..41
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409528"
     Region          44..51
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409528"
     Region          52..60
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409528"
     Region          62..72
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409528"
     Region          62..69
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409528"
     Region          74..86
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409528"
     Region          75..80
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409528"
     Region          89..127
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409528"
     Region          92..98
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409528"
     Region          104..110
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409528"
     Region          119..127
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409528"
     Region          128..130
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409528"
     Region          130..139
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409528"
     Region          131..142
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409528"
     Region          144..224
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          161..165
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          175..179
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          199..207
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          217..222
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          250..360
                     /region_name="IgV_B7-H3"
                     /note="Immunoglobulin Variable (IgV) domain of B7-H3, a
                     member of the B7 family of immune checkpoint molecules;
                     cd20934"
                     /db_xref="CDD:409528"
     Region          250..269
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409528"
     Region          250..253
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409528"
     Region          255..259
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409528"
     Region          262..269
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409528"
     Region          270..278
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409528"
     Region          280..290
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409528"
     Region          280..287
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409528"
     Region          292..304
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409528"
     Region          293..298
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409528"
     Region          301..304
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409528"
     Region          307..345
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409528"
     Region          310..316
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409528"
     Region          322..328
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409528"
     Region          337..345
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409528"
     Region          346..348
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409528"
     Region          348..357
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409528"
     Region          349..360
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409528"
     Region          366..449
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          379..383
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          393..397
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          424..428
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          435..440
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..534
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /coded_by="XM_017022638.2:175..1779"
                     /db_xref="GeneID:80381"
                     /db_xref="HGNC:HGNC:19137"
                     /db_xref="MIM:605715"
ORIGIN      
        1 mlrrrgspgm gvhvgaalga lwfcltgale vqvpedpvva lvgtdatlcc sfspepgfsl
       61 aqlnliwqlt dtkqlvhsfa egqdqgsaya nrtalfpdll aqgnaslrlq rvrvadegsf
      121 tcfvsirdfg saavslqvaa pyskpsmtle pnkdlrpgdt vtitcssyqg ypeaevfwqd
      181 gqgvpltgnv ttsqmaneqg lfdvhsilrv vlgangtysc lvrnpvlqqd ahssvtitpq
      241 rsptgavevq vpedpvvalv gtdatlrcsf spepgfslaq lnliwqltdt kqlvhsfteg
      301 rdqgsayanr talfpdllaq gnaslrlqrv rvadegsftc fvsirdfgsa avslqvaapy
      361 skpsmtlepn kdlrpgdtvt itcssyrgyp eaevfwqdgq gvpltgnvtt sqmaneqglf
      421 dvhsvlrvvl gangtysclv rnpvlqqdah gsvtitgqpm tfppealwvt vglsvclial
      481 lvalafvcwr kikqsceeen agaedqdgeg egsktalqpl khsdskeddg qeia
//
LOCUS       XP_047289544             205 aa            linear   PRI 20-MAR-2023
DEFINITION  protein N-terminal asparagine amidohydrolase isoform X2 [Homo
            sapiens].
ACCESSION   XP_047289544
VERSION     XP_047289544.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433588.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..205
                     /product="protein N-terminal asparagine amidohydrolase
                     isoform X2"
                     /calculated_mol_wt=23277
     Region          <1..199
                     /region_name="N_Asn_amidohyd"
                     /note="Protein N-terminal asparagine amidohydrolase;
                     pfam14736"
                     /db_xref="CDD:434169"
     CDS             1..205
                     /gene="NTAN1"
                     /gene_synonym="PNAA; PNAD"
                     /coded_by="XM_047433588.1:395..1012"
                     /db_xref="GeneID:123803"
                     /db_xref="HGNC:HGNC:29909"
                     /db_xref="MIM:615367"
ORIGIN      
        1 mnsiksfsdh aqcgrlevhl vggfsddrql sqklthqlls efdrqeddih lvtlcvteln
       61 dreenenhfp viygiavnik taeiyrasfq drgpeeqlra artlaggpmi siydaeteql
      121 rigpyswtpf phvdfwlhqd dkqilenlst splaepphfv ehirstlmfl kkhpspahtl
      181 fsgnkallyk knedglweki sspgs
//
LOCUS       XP_047290694             906 aa            linear   PRI 20-MAR-2023
DEFINITION  lon protease homolog 2, peroxisomal isoform X3 [Homo sapiens].
ACCESSION   XP_047290694
VERSION     XP_047290694.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434738.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..906
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..906
                     /product="lon protease homolog 2, peroxisomal isoform X3"
                     /calculated_mol_wt=100801
     Region          11..838
                     /region_name="Lon"
                     /note="ATP-dependent Lon protease, bacterial type
                     [Posttranslational modification, protein turnover,
                     chaperones]; COG0466"
                     /db_xref="CDD:223542"
     CDS             1..906
                     /gene="LONP2"
                     /gene_synonym="LONP; LONPL; PLON; PSLON"
                     /coded_by="XM_047434738.1:90..2810"
                     /db_xref="GeneID:83752"
                     /db_xref="HGNC:HGNC:20598"
                     /db_xref="MIM:617774"
ORIGIN      
        1 mssvspiqip srlplllthe gvllpgstmr tsvdsarnlq lvrsrllkgt slqstilgvi
       61 pntpdpasda qdlpplhrig taalavqvvg snwpkphytl litglcrfqi vqvlkekpyp
      121 iaeveqldrl eefpntckmr eelgelseqf ykyavqlvem ldmsvpavak lrrlldslpr
      181 ealpdiltsi irtsnkeklq ildavsleer fkmtipllvr qieglkllqk trkpkqdddk
      241 rviairpirr ithisgtled ededednddi vmlekkirts smpeqahkvc vkeikrlkkm
      301 pqsmpeyalt rnylelmvel pwnksttdrl diraarilld ndhyameklk krvleylavr
      361 qlknnlkgpi lcfvgppgvg ktsvgrsvak tlgrefhria lggvcdqsdi rghrrtyvgs
      421 mpgriinglk tvgvnnpvfl ldevdklgks lqgdpaaall evldpeqnhn ftdhylnvaf
      481 dlsqvlfiat anttatipaa lldrmeiiqv pgytqeekie iahrhlipkq leqhgltpqq
      541 iqipqvttld iitrytreag vrsldrklga icravavkva egqhkeakld rsdvteregc
      601 rehiledekp esisdttdla lppempilid fhalkdilgp pmyemevsqr lsqpgvaigl
      661 awtplggeim fveasrmdge gqltltgqlg dvmkesahla iswlrsnakk yqltnafgsf
      721 dlldntdihl hfpagavtkd gpsagvtivt claslfsgrl vrsdvamtge itlrglvlpv
      781 ggikdkvlaa hraglkqvii prrnekdleg ipgnvrqdls fvtascldev lnaafdggft
      841 vktrpgllns klgrkyqkgl nrqqanmlpp tervlgwqtd gclifcetev lntgqkmfdc
      901 hfntwk
//
LOCUS       XP_047290758             400 aa            linear   PRI 20-MAR-2023
DEFINITION  double C2-like domain-containing protein alpha isoform X1 [Homo
            sapiens].
ACCESSION   XP_047290758
VERSION     XP_047290758.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434802.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..400
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..400
                     /product="double C2-like domain-containing protein alpha
                     isoform X1"
                     /calculated_mol_wt=43828
     Region          90..213
                     /region_name="C2A_Rabphilin_Doc2"
                     /note="C2 domain first repeat present in Rabphilin and
                     Double C2 domain; cd04035"
                     /db_xref="CDD:176000"
     Site            order(120,126,181,183,189)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176000"
     Region          254..386
                     /region_name="C2B_Rabphilin_Doc2"
                     /note="C2 domain second repeat present in Rabphilin and
                     Double C2 domain; cd08384"
                     /db_xref="CDD:176030"
     Site            order(282,288,342,344,350)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176030"
     CDS             1..400
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /coded_by="XM_047434802.1:539..1741"
                     /db_xref="GeneID:8448"
                     /db_xref="HGNC:HGNC:2985"
                     /db_xref="MIM:604567"
ORIGIN      
        1 mrgrrgdrmt iniqehmain vcpgpirpir qisdyfprgp gpeggggggg eapahlvpla
       61 lappaallga ttpedgaevd sydsddatal gtlefdllyd rasctlhcsi lrakglkpmd
      121 fngladpyvk lhllpgacka nklktktqrn tlnpvwnedl tysgitdddi thkvlriavc
      181 dedklshnef igeirvplrr lkpsqkkhfn iclerqvpla spssmsaalr giscylkele
      241 qaeqgqglle ergrillsls yssrrrgllv gilrcahlaa mdvngysdpy vktylrpdvd
      301 kkskhktcvk kktlnpefne effyeielst latktlevtv wdydigksnd figgvslgpg
      361 argearkhws dclqqpdaal erwhtltsel ppaagalssa
//
LOCUS       XP_047290840             793 aa            linear   PRI 20-MAR-2023
DEFINITION  sorting nexin-29 isoform X13 [Homo sapiens].
ACCESSION   XP_047290840
VERSION     XP_047290840.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434884.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..793
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..793
                     /product="sorting nexin-29 isoform X13"
                     /calculated_mol_wt=89013
     Region          16..178
                     /region_name="RUN_SNX29"
                     /note="RUN domain found in sorting nexin-29 (SNX29) and
                     similar proteins; cd17689"
                     /db_xref="CDD:439051"
     Region          <462..>554
                     /region_name="COG2433"
                     /note="Possible nuclease of RNase H fold, RuvC/YqgF family
                     [General function prediction only]"
                     /db_xref="CDD:225288"
     Region          <479..631
                     /region_name="COG1340"
                     /note="Uncharacterized coiled-coil protein, contains
                     DUF342 domain [Function unknown]"
                     /db_xref="CDD:224259"
     Region          658..774
                     /region_name="PX_RUN"
                     /note="The phosphoinositide binding Phox Homology domain
                     of uncharacterized proteins containing PX and RUN domains;
                     cd07277"
                     /db_xref="CDD:132810"
     Site            order(694..696,720..721,734)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:132810"
     CDS             1..793
                     /gene="SNX29"
                     /gene_synonym="A-388D4.1; RUNDC2A"
                     /coded_by="XM_047434884.1:74..2455"
                     /db_xref="GeneID:92017"
                     /db_xref="HGNC:HGNC:30542"
ORIGIN      
        1 msgsqnndkr qfllerllda vkqcqirfgg rkeiasdsds rvtclcaqfe avlqhglkrs
       61 rglaltaaai kqaagfaskt etepvfwyyv kevlnkhelq rfyslrhias dvgrgrawlr
      121 calnehsler ylhmlladrc rlstfyedws fvmdeerssm lptmaaglns ilfainidnk
      181 dlngqskfap tvsdllkest qnvtsllkes tqgvsslfre itassavsil ikpeqetdpl
      241 pvvsrnvsad akckkerkkk kkvtniisfd deedeqnsgd vfkktpgage ssednsdrss
      301 vnimsafesp fgpnsngsqs snswkidsls lngefgyqkl dvksiddedv deneddvygn
      361 ssgrkhrghs espekplegn tclsqmhswa plkvlhndsd ilfpvsgvgs yspadaplgs
      421 lengtgpedh vlpdpglrys veasspghgs plssllpsas vpesmtisel rqatvammnr
      481 kdeleeenrs lrnlldgeme hsaalrqevd tlkrkvaeqe erqgmkvqal arenevlkvq
      541 lkkyvgavqm lkregqtaev pnlwsvdgev tvaeqkpgei aeelassyer klievaemhg
      601 eliefnerlh ralvakealv sqmrqelidl rgpvpgdlsq tsedqslsdf eisnralinv
      661 wipsvflrgk aanafhvyqv yirikddewn iyrrytefrs lhhklqnkyp qvraynfppk
      721 kaignkdakf veerrkqlqn ylrsvmnkvi qmvpefaasp kketliqlmp ffvdwislfg
      781 ngrdssreef sss
//
LOCUS       XP_047290977             114 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124903725 [Homo sapiens].
ACCESSION   XP_047290977
VERSION     XP_047290977.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435021.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..114
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..114
                     /product="uncharacterized protein LOC124903725"
                     /calculated_mol_wt=12168
     CDS             1..114
                     /gene="LOC124903725"
                     /coded_by="XM_047435021.1:1..345"
                     /db_xref="GeneID:124903725"
ORIGIN      
        1 mldgqsplli svprqqlrtl pgshvylqlg eelcqpraga gthldqdlpd apgppgervv
       61 tfcdqfgkrl ggpatgqcgn pgfefpprrc frtesplnal pqvpwalvsp svkq
//
LOCUS       XP_047291068             553 aa            linear   PRI 20-MAR-2023
DEFINITION  brain-specific angiogenesis inhibitor 1-associated protein 2
            isoform X3 [Homo sapiens].
ACCESSION   XP_047291068
VERSION     XP_047291068.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435112.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..553
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..553
                     /product="brain-specific angiogenesis inhibitor
                     1-associated protein 2 isoform X3"
                     /calculated_mol_wt=61250
     Region          5..269
                     /region_name="I-BAR_IMD_IRSp53"
                     /note="Inverse (I)-BAR, also known as the IRSp53/MIM
                     homology Domain (IMD), of Insulin Receptor tyrosine kinase
                     Substrate p53; cd07646"
                     /db_xref="CDD:153330"
     Site            order(5,9,12,15..16,56..57,60..61,64,67..68,70..71,74..75,
                     77..78,81..82,84..85,88..89,91..92,95..96,99..102,
                     104..105,108..109,112,119,130,134,209,213,216..217,
                     220..221,223..225,227..228,230..232,234..235,238..239,
                     241..242,244..246,249,252,256,259..260,262..263,265..266,
                     268..269)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153330"
     Site            order(11,56,176)
                     /site_type="other"
                     /note="putative Rac binding residues [polypeptide
                     binding]"
                     /db_xref="CDD:153330"
     Site            order(141,163,180,204)
                     /site_type="other"
                     /note="putative membrane interaction site"
                     /db_xref="CDD:153330"
     Site            order(175,178,180)
                     /site_type="other"
                     /note="putative actin binding residues [polypeptide
                     binding]"
                     /db_xref="CDD:153330"
     Region          410..468
                     /region_name="SH3_Irsp53"
                     /note="Src Homology 3 domain of Insulin Receptor tyrosine
                     kinase Substrate p53; cd11915"
                     /db_xref="CDD:212848"
     Site            order(415..416,418,425..426,438..439,444..446,448,
                     458..459,461..464)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212848"
     CDS             1..553
                     /gene="BAIAP2"
                     /gene_synonym="BAP2; FLAF3; IRSP53; WAML"
                     /coded_by="XM_047435112.1:105..1766"
                     /db_xref="GeneID:10458"
                     /db_xref="HGNC:HGNC:947"
                     /db_xref="MIM:605475"
ORIGIN      
        1 mslsrseemh rltenvykrv eekyqrnlfp ifspsalkpe srnfrgeswq gtimeqfnps
       61 lrnfiamgkn yekalagvty aakgyfdalv kmgelasesq gskelgdvlf qmaevhrqiq
      121 nqleemlksf hnelltqleq kveldsryls aalkkyqteq rskgdaldkc qaelkklrkk
      181 sqgsknpqky sdkelqyida isnkqgelen yvsdgyktal teerrrfcfl vekqcavakn
      241 saayhskgke llaqklplwq qacadpskip eravqlmqqv asngatlpsa lsasksnlvi
      301 sdpipgakpl pvppelapfv grmsaqestp imngvtgpdg edyspwadrk aaqpkslspp
      361 qsqsklsdsy sntlpvrksv tpknsyatte nktlprsssm aaglerngrm rvkaifshaa
      421 gdnstllsfk egdlitllvp eardgwhyge sektkmrgwf pfsytrvlds dgsdrlhmsl
      481 qqgkssstgn lldkddlaip ppdygaasra fpaqtasgfk qrpysvavpa fsqglddyga
      541 rsmssadvev arf
//
LOCUS       XP_011522043             711 aa            linear   PRI 20-MAR-2023
DEFINITION  rap1 GTPase-activating protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_011522043
VERSION     XP_011522043.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523741.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..711
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..711
                     /product="rap1 GTPase-activating protein 2 isoform X3"
                     /calculated_mol_wt=77767
     Region          259..438
                     /region_name="Rap_GAP"
                     /note="Rap/ran-GAP; pfam02145"
                     /db_xref="CDD:426620"
     CDS             1..711
                     /gene="RAP1GAP2"
                     /gene_synonym="GARNL4; RAP1GA3"
                     /coded_by="XM_011523741.3:63..2198"
                     /db_xref="GeneID:23108"
                     /db_xref="HGNC:HGNC:29176"
                     /db_xref="MIM:618714"
ORIGIN      
        1 mlaslkvkkq elanssdatl pdrplspplt apptmkssef femlekmqgi kleeqkpgpq
       61 knkddyipyp sidevvekgg pypqvilpqf ggywiedpen vgtptslgss iceeeeednl
      121 spntfgykle ckgearayrr hflgkdhlnf yctgsslgnl ilsvkceeae gieylrvilr
      181 sklktvheri plaglsklps vpqiakafcd davglrfnpv lypkasqmiv sydehevnnt
      241 fkfgviyqka rqtleeelfg nneespafke fldllgdtit lqdfkgfrgg ldvthgqtgv
      301 esvyttfrdr eimfhvstkl pftdgdaqql qrkrhigndi vaiifqeent pfvpdmiasn
      361 flhayivvqv etpgtetpsy kvsvtaredv ptfgpplpsp pvfqkgpefr eflltkltna
      421 enaccksdkf akledrtraa lldnlhdelh ahtqamlglg peedkfengg hggflesfkr
      481 airvrshsme tmvggqkksh sggipgslsg gishnsmevt kttfsppvva atvknqsrsp
      541 ikrrsglfpr lhtgsegqgd srarcdstss tpktpdgghs sqeiksetss npsspeicpn
      601 kekpfmklke ngraisrsss stssvsstag egeameegds ggsqpsttsp fkqevfvysp
      661 spssespslg aaatpiimsr sptdaksrns prsnlkfrfd klshassgag h
//
LOCUS       XP_016880056             197 aa            linear   PRI 20-MAR-2023
DEFINITION  sperm-egg fusion protein TMEM95 isoform X4 [Homo sapiens].
ACCESSION   XP_016880056
VERSION     XP_016880056.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017024567.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..197
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..197
                     /product="sperm-egg fusion protein TMEM95 isoform X4"
                     /calculated_mol_wt=21530
     Region          17..>103
                     /region_name="TMEM95"
                     /note="TMEM95 family; pfam15203"
                     /db_xref="CDD:434534"
     CDS             1..197
                     /gene="TMEM95"
                     /gene_synonym="UNQ9390"
                     /coded_by="XM_017024567.2:50..643"
                     /db_xref="GeneID:339168"
                     /db_xref="HGNC:HGNC:27898"
                     /db_xref="MIM:617814"
ORIGIN      
        1 mwrlalggvf laaaqacvfc rlpahdlsgr larlcsqmea rqkecgaspd fsafaldevs
       61 mnkvtekthr vlrvmggstt lyncstckgt evscwprkrc fpgpttskqk vacedaenlp
      121 assskgvrwp pgnpgthswk vpplqpstnh mavnnarkis tegknplrhs hhthtpfclf
      181 resggicprs ysrpsyd
//
LOCUS       XP_024306554             360 aa            linear   PRI 20-MAR-2023
DEFINITION  archaemetzincin-2 isoform X1 [Homo sapiens].
ACCESSION   XP_024306554
VERSION     XP_024306554.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024450786.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..360
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..360
                     /product="archaemetzincin-2 isoform X1"
                     /calculated_mol_wt=41132
     Region          89..297
                     /region_name="Peptidase_M54"
                     /note="Peptidase family M54, also called archaemetzincins
                     or archaelysins; cd11375"
                     /db_xref="CDD:213029"
     Site            order(186,188,254..255,258,264..265,270,272,289,292)
                     /site_type="active"
                     /db_xref="CDD:213029"
     CDS             1..360
                     /gene="AMZ2"
                     /coded_by="XM_024450786.2:183..1265"
                     /db_xref="GeneID:51321"
                     /db_xref="HGNC:HGNC:28041"
                     /db_xref="MIM:615169"
ORIGIN      
        1 mqiirhseqt lktalisknp vlvsqyekln ageqrlmnea fqpasdlfgp itlhspsdwi
       61 tshpeapqdf eqffsdpyrk tpspnkrsiy iqsigslgnt riiseeyikw ltgyckayfy
      121 glrvkllepv pvsvtrcsfr vnenthnlqi hagdilkflk kkkpedafcv vgitmidlyp
      181 rdswnfvfgq asltdgvgif sfarygsdfy smhykgkvkk lkktsssdys ifdnyyipei
      241 tsvlllrsck tltheighif glrhcqwlac lmqgsnhlee adrrplnlcp iclhklqcav
      301 gfsiveryka lvrwiddess dtpgatpehs hedngnlpkp veafkewkew iikclavlqk
//
LOCUS       XP_047292537            1053 aa            linear   PRI 20-MAR-2023
DEFINITION  sterol regulatory element-binding protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047292537
VERSION     XP_047292537.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436581.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1053
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1053
                     /product="sterol regulatory element-binding protein 1
                     isoform X2"
                     /calculated_mol_wt=111462
     Region          <25..296
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          <63..>186
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     Region          295..369
                     /region_name="bHLHzip_SREBP1"
                     /note="basic Helix-Loop-Helix-zipper (bHLHzip) domain
                     found in sterol regulatory element-binding protein 1
                     (SREBP1) and similar proteins; cd18921"
                     /db_xref="CDD:381491"
     Site            order(295,301,303..305,307..308,310..312,316,334..335)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381491"
     Site            order(311,314..315,318..319,321..322,325,335..336,
                     339..340,343,345..347,349..350,352..353,356..357,359..360,
                     363..364,367)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:381491"
     CDS             1..1053
                     /gene="SREBF1"
                     /gene_synonym="bHLHd1; HMD; IFAP2; SREBP1"
                     /coded_by="XM_047436581.1:95..3256"
                     /db_xref="GeneID:6720"
                     /db_xref="HGNC:HGNC:11289"
                     /db_xref="MIM:184756"
ORIGIN      
        1 mdctfedmlq linnqdsdfp glfdppyags gaggtdpasp dtsspgslsp ppatlsssle
       61 aflsgpqaap splsppqpap tplkmypsmp afspgpgike esvplsilqt ptpqplpgal
      121 lpqsfpapap pqfsstpvlg ypsppggfst gsppgntqqp lpglplaspp gvppvslhtq
      181 vqsvvpqqll tvtaaptaap vtttvtsqiq qvpvllqphf ikadslllta mktdgatvka
      241 aglsplvsgt tvqtgplptl vsggtilatv plvvdaeklp inrlaagska pasaqsrgek
      301 rtahnaiekr yrssindkii elkdlvvgte aklnksavlr kaidyirflq hsnqklkqen
      361 lslrtavhks kslkdlvsac gsggntdvlm egvktevedt ltpppsdags pfqssplslg
      421 srgsgsggsg sdsepdspvf edskakpeqr pslhsrgmld rsrlalctlv flclscnpla
      481 sllgarglps psdttsvyhs pgrnvlgtes rdgpgwaqwl lppvvwllng llvlvslvll
      541 fvygepvtrp hsgpavyfwr hrkqadldla rgdfaqaaqq lwlalralgr plptshldla
      601 csllwnlirh llqrlwvgrw lagragglqq dcalrvdasa sardaalvyh klhqlhtmgk
      661 htgghltatn lalsalnlae cagdavsvat laeiyvaaal rvktslpral hfltrfflss
      721 arqaclaqsg svppamqwlc hpvghrffvd gdwsvlstpw eslyslagnp vdplaqvtql
      781 frehlleral ncvtqpnpsp gsadgdkefs dalgylqlln scsdaagapa ysfsisssma
      841 tttgvdpvak wwasltavvi hwlrrdeeaa erlcplvehl prvlqeserp lpraalhsfk
      901 aarallgcak aesgpaslti cekasgylqd slattpasss idkavqlflc dlllvvrtsl
      961 wrqqqppapa paaqgtssrp qasalelrgf qrdlsslrrl aqsfrpamrr vflheatarl
     1021 magasptrth qlldrslrrr agpggkgadg cad
//
LOCUS       XP_016880646            1047 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-XIX isoform X1 [Homo sapiens].
ACCESSION   XP_016880646
VERSION     XP_016880646.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017025157.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1047
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1047
                     /product="unconventional myosin-XIX isoform X1"
                     /calculated_mol_wt=117531
     Region          49..823
                     /region_name="MYSc_Myo19"
                     /note="class XIX myosin, motor domain; cd14880"
                     /db_xref="CDD:276846"
     Site            order(76..85,163..170,216..226,491..496)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276846"
     Site            76..85
                     /site_type="other"
                     /note="purine-binding loop"
                     /db_xref="CDD:276846"
     Site            163..170
                     /site_type="other"
                     /note="P-loop"
                     /db_xref="CDD:276846"
     Site            216..226
                     /site_type="other"
                     /note="switch I region"
                     /db_xref="CDD:276846"
     Site            491..496
                     /site_type="other"
                     /note="switch II region"
                     /db_xref="CDD:276846"
     Site            520..543
                     /site_type="other"
                     /note="relay loop"
                     /db_xref="CDD:276846"
     Site            721..730
                     /site_type="other"
                     /note="SH1 helix"
                     /db_xref="CDD:276846"
     Site            order(733..759,812..823)
                     /site_type="other"
                     /note="converter subdomain"
                     /db_xref="CDD:276846"
     CDS             1..1047
                     /gene="MYO19"
                     /gene_synonym="MYOHD1"
                     /coded_by="XM_017025157.2:481..3624"
                     /db_xref="GeneID:80179"
                     /db_xref="HGNC:HGNC:26234"
                     /db_xref="MIM:617379"
ORIGIN      
        1 mlqqvnghnp gsdgqareyl redlqeflgg evllyklddl trvnpvtlet vlrclqarym
       61 adtfytnagc tlvalnpfkp vpqlyspelm reyhaapqpq qcghsesasa tacpigagri
      121 lnheelttgq kklkphvftv geqtyrnvks liepvnqsiv vsgesgagkt wtsrclmkfy
      181 avvatspasw eshkiaerie qrilnsnpvm eafgnactlr nnnssrfgkf iqlqlnraqq
      241 mtgaavqtyl lektrvacqa ssernfhify qickgasede rlqwhlpega afswlpnper
      301 sleedcfevt reamlhlgid tptqnnifkt apeqqegidr mawqsrkggh frevamqwkv
      361 tltsrwgllr hcqvlagllh lgniqfaase deaqpcqpmd dakcedsvrt aasllglped
      421 vllemvqirt iragrqqqvf rkpcaraecd trrdclakli yarlfdwlvs vinssicadt
      481 dswttfigll dvygfesfpd nsleqlciny aneklqqhfv ahylraqqee yaveglewsf
      541 inyqdnqpcl dliegspisi cslineecrl nrpssaaqlq trietalags pclghnklsr
      601 epsfivvhya gpvryhtagl veknkdpipp eltrllqqsq dpllmglfpt npkektqeep
      661 pgqsrapvlt vvskfkasle qllqvlhstt phyircikpn sqgqaqtflq eevlsqleac
      721 glvetihisa agfpirvshr nfverykllr rlhpctssgp dspypakglp ewcphseeat
      781 lepliqdilh tlpvltqaaa itgdsaeamp apmhcgrtkv fmtdsmlell ecgrarvleq
      841 carciqggwr rhrhreqerq wravmliqaa irswltrkhi qrlhaaatvi krawqkwrir
      901 maclaakeld gveekhfsqa pcslstsplq trlleaiirl wplglvlant amgvgsfqrk
      961 lvvwaclqlp rgspssytvq taqdqagvts iralpqgsik fhcrksplry adicpepspy
     1021 sitgfnqill erhrlihvts saftglg
//
LOCUS       XP_047292850            1229 aa            linear   PRI 20-MAR-2023
DEFINITION  Fanconi anemia group J protein isoform X4 [Homo sapiens].
ACCESSION   XP_047292850
VERSION     XP_047292850.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436894.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 50% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1229
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1229
                     /product="Fanconi anemia group J protein isoform X4"
                     /calculated_mol_wt=138664
     Region          <18..>61
                     /region_name="PRK08074"
                     /note="bifunctional ATP-dependent DNA helicase/DNA
                     polymerase III subunit epsilon; Validated"
                     /db_xref="CDD:236148"
     Region          245..861
                     /region_name="rad3"
                     /note="DNA repair helicase (rad3); TIGR00604"
                     /db_xref="CDD:273169"
     CDS             1..1229
                     /gene="BRIP1"
                     /gene_synonym="BACH1; FANCJ; OF"
                     /coded_by="XM_047436894.1:1650..5339"
                     /db_xref="GeneID:83990"
                     /db_xref="HGNC:HGNC:20473"
                     /db_xref="MIM:605882"
ORIGIN      
        1 mssmwseyti ggvkiyfpyk aypsqlammn silrglnskq hcllesptgs gkslallcsa
       61 lawqqslsgk padegvseka evqlscccac hskdftnndm nqgtsrhfny pstppserng
      121 tsstcqdspe kttlaaklsa kkqasiyrde nddfqvekkr irplettqqi rkrhcfgtev
      181 hnldakvdsg ktvklnsple kinsfspqkp pghcsrcccs tkqgnsqess ntikkdhtgk
      241 skipkiyfgt rthkqiaqit relrrtaysg vpmtilssrd htcvhpevvg nfnrnekcme
      301 lldgkngksc yfyhgvhkis dqhtlqtfqg mckawdieel vslgkklkac pyytareliq
      361 dadiifcpyn ylldaqires mdlnlkeqvv ildeahnied caresasysv tevqlrfard
      421 eldsmvnnni rkkdheplra vccslinwle anaeylverd yesackiwsg nemlltlhkm
      481 gittatfpil qghfsavlqk eekispiygk eearevpvis astqimlkgl fmvldylfrq
      541 nsrfaddyki aiqqtyswtn qidisdkngl lvlpknkkrs rqktavhvln fwclnpavaf
      601 sdingkvqti vltsgtlspm ksfsselgvt ftiqleanhi iknsqntetf efqdevgall
      661 lsvcqtvsqg ilcflpsykl leklkerwls tglwhnlelv ktvivepqgg ektnfdellq
      721 vyydaikykg ekdgallvav crgkvsegld fsddnaravi tigipfpnvk dlqvelkrqy
      781 ndhhsklrgl lpgrqwyeiq ayralnqalg rcirhrndwg alilvddrfr nnpsryisgl
      841 skwvrqqiqh hstfesales laefskkhqk vlnvsikdrt niqdnestle vtslkystsp
      901 ylleaashls penfvedeak icvqelqcpk iitknsplps siisrkeknd pvfleeagka
      961 ekivisrsts ptfnkqtkrv swssfnslgq yftgkipkat pelgssensa sspprfktek
     1021 mesktvlpft dkcessnltv ntsfgscpqs etiisslkid atltrknhse hplcseeald
     1081 pdielslvse edkqstsnrd feteaedesi yftpelydpe dtdeekndla etdrgnrlan
     1141 nsdcilakdl feirtikevd sarevkaedc idtklngilh ieeskiddid gnvkttwine
     1201 lelgktheie iknfkpspsk nkgmfpgfk
//
LOCUS       XP_047292872             609 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear speckle splicing regulatory protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047292872
VERSION     XP_047292872.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436916.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..609
                     /product="nuclear speckle splicing regulatory protein 1
                     isoform X1"
                     /calculated_mol_wt=72290
     Region          109..228
                     /region_name="DUF2040"
                     /note="Coiled-coil domain-containing protein 55 (DUF2040);
                     pfam09745"
                     /db_xref="CDD:430796"
     Region          341..>503
                     /region_name="PRK12678"
                     /note="transcription termination factor Rho; Provisional"
                     /db_xref="CDD:237171"
     CDS             1..609
                     /gene="NSRP1"
                     /gene_synonym="CCDC55; HSPC095; NEDSSBA; NSrp70"
                     /coded_by="XM_047436916.1:1204..3033"
                     /db_xref="GeneID:84081"
                     /db_xref="HGNC:HGNC:25305"
                     /db_xref="MIM:616173"
ORIGIN      
        1 mylltfkhkg lisiskkiya gmglfcqrkh ssctlfcknh qclgmilmmm msvypvlvfk
       61 gkllkfgirv pelescfaih qlfvlkfsqt svseslqrea akkqamkqtk leiqkalaed
      121 atvyeydsiy demqkkkeen npklllgkdr kpkyihnllk aveirkkeqe krmekkiqre
      181 remekgefdd keafvtsayk kklqeraeee erekraaale acldvtkqkd lsgfyrhlln
      241 qavgeeevpk csfrearsgi keeksrgfsn evssknripq ekcilqtdvk veenpdadsd
      301 fdakssadde ieetrvncrr ekvietpend fkhhrsqnhs rspseerghs trhhtkgsrt
      361 srghekredq hqqkqsrdqe nhytdrdyrk erdshrhrea shrdshwkrh eqedkprard
      421 qrersdrvwk rekdrekysq reqerdrqqn dqnrpsekge keekskakee hmkvrkerye
      481 nndkyrdrek revgvqsser nqdrkesspn srakdkfldq ersnkmrnma kdkernqekp
      541 snsesslgak hrlteegqek gkeqerppea vskfakrnne etvmsardry larqmarvna
      601 ktyiekedd
//
LOCUS       XP_006722387             240 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine nucleotide-binding protein G(olf) subunit alpha isoform X1
            [Homo sapiens].
ACCESSION   XP_006722387
VERSION     XP_006722387.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006722324.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..240
                     /product="guanine nucleotide-binding protein G(olf)
                     subunit alpha isoform X1"
                     /calculated_mol_wt=26599
     Region          120..>240
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            126..133
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206648"
     CDS             1..240
                     /gene="GNAL"
                     /gene_synonym="DYT25; HG1O"
                     /coded_by="XM_006722324.4:301..1023"
                     /db_xref="GeneID:2774"
                     /db_xref="HGNC:HGNC:4388"
                     /db_xref="MIM:139312"
ORIGIN      
        1 mglcyslrpl lfggpgddpc aaseppveda qpapapalap vraaardtar tllprggegs
       61 pacarpkadk pkekrqrteq lsaeereaak ereavkeark vsrgidrmlr dqkrdlqqth
      121 rllllgages gkstivkqmr ilhvngfnpe ekkqkildir knvkdaivti vsamstiipp
      181 vplanpenqf rsdyiksiap itdfeysqef fdhvkklwdd egvkacfers neyqlidcaq
//
LOCUS       XP_006723216             308 aa            linear   PRI 20-MAR-2023
DEFINITION  actin maturation protease isoform X8 [Homo sapiens].
ACCESSION   XP_006723216
VERSION     XP_006723216.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006723153.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..308
                     /product="actin maturation protease isoform X8"
                     /calculated_mol_wt=33062
     CDS             1..308
                     /gene="ACTMAP"
                     /gene_synonym="C19orf54"
                     /coded_by="XM_006723153.4:675..1601"
                     /db_xref="GeneID:284325"
                     /db_xref="HGNC:HGNC:24758"
                     /db_xref="MIM:620093"
ORIGIN      
        1 mtspcspplk ppisppktpv pqassipspp lppspldfsa lpsppwsqqt pvppplplpp
       61 ppaatgpapr hvfgleksql lkeafdkagp vpkgredvkr llklhkdrfr gdlrwilfca
      121 dlpsliqegp qcglvalwma gtllsppsgv plerlirvat ergytaqgem fsvadmgrla
      181 qevlgcqakl lsgglggpnr dlvlqhlvtg hpllipyded fnhepcqrkg hkahwagscw
      241 vfglcpvsat lrtlscracs tqcwarpanh hpcqrrapre lstccpsrar vgtiscgttt
      301 rsgratcs
//
LOCUS       XP_047294646             599 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 875 isoform X7 [Homo sapiens].
ACCESSION   XP_047294646
VERSION     XP_047294646.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438690.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..599
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..599
                     /product="zinc finger protein 875 isoform X7"
                     /calculated_mol_wt=68161
     Region          219..235
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          239..598
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          243..263
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          271..291
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          299..319
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          327..347
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(332,334,336,338..339,342..343,346,360,362,366..367,
                     370..371,374,388,390,392,394..395,398..399,402)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          355..375
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          383..403
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          411..431
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          439..459
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          467..487
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          495..515
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          521..541
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(526,528,530,532..533,536..537,540,554,556,560..561,
                     564..565,568,582,584,586,588..589,592..593,596)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          549..569
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          577..597
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..599
                     /gene="ZNF875"
                     /gene_synonym="HKR1"
                     /coded_by="XM_047438690.1:6317..8116"
                     /db_xref="GeneID:284459"
                     /db_xref="HGNC:HGNC:4928"
                     /db_xref="MIM:165250"
ORIGIN      
        1 mletynhlvs leipsskpkl iaqlergeap wreerkcpld lcpaeskpei qlspscplif
       61 ssqqalsqhv wlshlsqlfs slwagnplhl gkhypedqkq qqdpfcfsgk aewiqegeds
      121 rllfgrvskn gtskalsspp eeqqpaqske dntvvdigss perradleet dkvlhglevs
      181 gfgeikyeef gpgfikesnl lslqktqtge tpymytewgd sfgsmsvlik nprthsggkp
      241 yvcrecgrgf twksnlithq rthsgekpyv ckdcgrgftw ksnlfthqrt hsglkpyvck
      301 ecgqsfslks nlithqraht gekpyvcrec grgfrqhshl vrhkrthsge kpyicreceq
      361 gfsqkshlir hlrthtgekp yvctecgrhf swksnlkthq rthsgvkpyv clecgqcfsl
      421 ksnlnkhqrs htgekpfvct ecgrgftrks tlsthqrths gekpfvcaec grgfndkstl
      481 ishqrthsge kpfmcrecgr rfrqkpnlfr hkrahsgafv crecgqgfca kltlikhqra
      541 haggkphvcr ecgqgfsrqs hlirhqrths gekpyicrkc grgfsrksnl irhqrthsg
//
LOCUS       XP_006723264             306 aa            linear   PRI 20-MAR-2023
DEFINITION  interferon regulatory factor 3 isoform X6 [Homo sapiens].
ACCESSION   XP_006723264
VERSION     XP_006723264.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006723201.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..306
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..306
                     /product="interferon regulatory factor 3 isoform X6"
                     /calculated_mol_wt=32563
     Region          56..>180
                     /region_name="IRF-3"
                     /note="Interferon-regulatory factor 3; pfam10401"
                     /db_xref="CDD:431258"
     CDS             1..306
                     /gene="IRF3"
                     /gene_synonym="IIAE7"
                     /coded_by="XM_006723201.2:501..1421"
                     /db_xref="GeneID:3661"
                     /db_xref="HGNC:HGNC:6118"
                     /db_xref="MIM:603734"
ORIGIN      
        1 mvlaplpdpg ppslavapep cpqplrspsl dnptpfpnlg psenplkrll vpgeewefev
       61 tafyrgrqvf qqtiscpegl rlvgsevgdr tlpgwpvtlp dpgmsltdrg vmsyvrhvls
      121 clggglalwr agqwlwaqrl ghchtywavs eellpnsghg pdgevpkdke ggvfdlgpfi
      181 vgswaprsdy lhgrkrtltt lcplvlcggv mapgpavdqe ardgqgcahv pqglgrngpg
      241 rgcllpgeyc gpahfqqppt lphlrpvqgl paglggghgf pgpwgelspr sswcasnppv
      301 phhlnq
//
LOCUS       XP_024307374             175 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 302 isoform X6 [Homo sapiens].
ACCESSION   XP_024307374
VERSION     XP_024307374.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024451606.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..175
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..175
                     /product="zinc finger protein 302 isoform X6"
                     /calculated_mol_wt=19513
     Region          48..108
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     CDS             1..175
                     /gene="ZNF302"
                     /gene_synonym="HSD16; MST154; MSTP154; ZNF135L; ZNF140L;
                     ZNF327"
                     /coded_by="XM_024451606.2:248..775"
                     /db_xref="GeneID:55900"
                     /db_xref="HGNC:HGNC:13848"
ORIGIN      
        1 msqrqypecy lapngclvsn cgvnkmsnee lvgqnhgmeg eactggdvtf sdvaidfshe
       61 ewacldsaqr dlykdvmvqn yenlvsvgls vtkpyvimll edgkepwmme kklskaypfp
      121 lshsvpasvn fgfsalfehc sevteifels elcvfwvlhf lsnspnstve affkk
//
LOCUS       XP_011526489             949 aa            linear   PRI 20-MAR-2023
DEFINITION  RAS protein activator like-3 isoform X3 [Homo sapiens].
ACCESSION   XP_011526489
VERSION     XP_011526489.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011528187.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..949
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..949
                     /product="RAS protein activator like-3 isoform X3"
                     /calculated_mol_wt=104636
     Region          180..321
                     /region_name="PH_RASAL3"
                     /note="RAS protein activator like-3 Pleckstrin homology
                     (PH) domain; cd13374"
                     /db_xref="CDD:270177"
     Region          294..>406
                     /region_name="C2"
                     /note="C2 domain; cl14603"
                     /db_xref="CDD:449331"
     Region          426..746
                     /region_name="RasGAP_DAB2IP"
                     /note="Ras-GTPase Activating Domain of DAB2IP and similar
                     proteins; cd05136"
                     /db_xref="CDD:213338"
     Site            order(459,496,498,500..501,503,506,510,605,613..614,
                     617..618,621,642,645..646,649,653,655,660..661)
                     /site_type="other"
                     /note="putative RAS interface [polypeptide binding]"
                     /db_xref="CDD:213338"
     Region          874..930
                     /region_name="SUN_cc1"
                     /note="coiled-coil domain 1 of SUN domain-containing
                     proteins; cl41753"
                     /db_xref="CDD:425384"
     Site            order(874,877..878,881,884..885,890..891,893..894,
                     897..898,900..901,904..905,907..908,911,914..915,918,
                     921..922,925..926,928..930)
                     /site_type="other"
                     /note="trimer interface [polypeptide binding]"
                     /db_xref="CDD:410603"
     CDS             1..949
                     /gene="RASAL3"
                     /coded_by="XM_011528187.2:60..2909"
                     /db_xref="GeneID:64926"
                     /db_xref="HGNC:HGNC:26129"
                     /db_xref="MIM:616561"
ORIGIN      
        1 mdppspsrts qtqptatspl tsyrwhtggg gekaaggfrw grfagwgral shqepmvstq
       61 paprsifrrv lsappkesrt srlrlskalw grhknpppep dpepeqeape lepepelepp
      121 tpqipeaptp nvpvwdiggf tlldgklvll ggeeegprrp rvgsassegs ihvamgnfrd
      181 pdrmpgktep etagpnqvhn vrgllkrlke kkkarleprd gppsalgsre slatlseldl
      241 gaerdvriwp lhpsllgeph cfqvtwtggs rcfscrsaae rdrwiedlrr qfqptqdnve
      301 reetwlsvwv heakglpraa agapgvrael wldgallart apragpgqlf waerfhfeal
      361 pparrlslrl rglgpgsavl grvalaleel daprapaagl erwfpllgap agaalrarir
      421 arrlrvlpse rykelaeflt fhyarlcgal epalpaqake elaaamvrvl ratgraqalv
      481 tdlgtaelar cggreallfr entlatkaid eymklvaqdy lqetlgqvvr rlcastedce
      541 vdpskcpase lpehqarlrn sceepprlti hclfctswfp aelgivfssw reackergse
      601 vlgprlvcas lflrllcpai lapslfglap dhpapgpart ltliakviqn lanrapfgek
      661 eaymgfmnsf leehgpamqc fldqvamvdv daapsgyqgs gdlalqlavl haqlctifae
      721 ldqttrdtle plptilraie egqpvlvsvp mrlplppaqv hsslsagekp gflaprdlpk
      781 htplisksqs lrsvrrsesw arprpdeerp lrrprpvqrt qsvpvrrpar rrqsagpwpr
      841 pkgslsmgpa prarpwtrds aslprkpsvp wqrqmdqpqd rnqalgthrp vnklaelqce
      901 vaalreeqkv lsrlveslst qiralteqqe qlrgqlqdld srlragsta
//
LOCUS       XP_047295345             176 aa            linear   PRI 20-MAR-2023
DEFINITION  kxDL motif-containing protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047295345
VERSION     XP_047295345.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439389.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..176
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..176
                     /product="kxDL motif-containing protein 1 isoform X1"
                     /calculated_mol_wt=19537
     Region          14..93
                     /region_name="KxDL"
                     /note="Uncharacterized conserved protein; pfam10241"
                     /db_xref="CDD:431165"
     CDS             1..176
                     /gene="KXD1"
                     /gene_synonym="BORCS4; C10orf50; C19orf50; KXDL; MST096;
                     MSTP096"
                     /coded_by="XM_047439389.1:1283..1813"
                     /db_xref="GeneID:79036"
                     /db_xref="HGNC:HGNC:28420"
                     /db_xref="MIM:615178"
ORIGIN      
        1 mdlpdsasrv fcgrilsmvn tddvnaiila qknmldrfek tnemllnfnn lssarlqqms
       61 erflhhtrtl vemkrdldsi frrirtlkgk larqhpeafs hipeasflee ededpippst
      121 tttiatseqs tgscdtspdt vspslspgfe dlshvqpgsp aingrsqtdd eemtge
//
LOCUS       XP_047295467             702 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 528 isoform X2 [Homo sapiens].
ACCESSION   XP_047295467
VERSION     XP_047295467.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439511.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..702
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..702
                     /product="zinc finger protein 528 isoform X2"
                     /calculated_mol_wt=80251
     Region          2..58
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          262..281
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          267..702
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          289..309
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(289,292,305,309)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          317..337
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(317,320,333,337)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(322,324,326,328..329,332..333,336,350,352,356..357,
                     360..361,364,378,380,382,384..385,388..389,392)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          345..365
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          373..393
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          401..421
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          429..449
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          457..477
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          485..505
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          513..533
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(513,516,529,533)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          541..561
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(541,544,557,561)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(546,548,550,552..553,556..557,560,574,576,580..581,
                     584..585,588,602,604,606,608..609,612..613,616)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          569..589
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          597..617
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          625..645
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          653..673
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          681..701
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..702
                     /gene="ZNF528"
                     /coded_by="XM_047439511.1:62..2170"
                     /db_xref="GeneID:84436"
                     /db_xref="HGNC:HGNC:29384"
                     /db_xref="MIM:615580"
ORIGIN      
        1 mdvaiefsqe ewkcldpaqr tlyrdvmlen yrnlvslgic lpdlsvtsml eqkrdpwtlq
       61 seekiandpd grecikgvnt aepslftssk syvrrplvrh prspssgspv atctdlggln
      121 eggehwnkrq rfptapmhhl sslcflhcqh dthntlillp msesersskl gsnagnkpck
      181 nqlgftfqlh lsdlqlfqae rkisgckhfe kpvsdnssvs plekisssvk shllnkyrnn
      241 fdhapllpqe qkahirekay kcnehgqvfr asasltnqvi hnadnpykcs ecgkvfscss
      301 klvihrrmht gekpykchec gklfssnsnl sqhqrihtge kpykchecdk vfrsssklaq
      361 hqrihtgekp ykchecdkvf nqiahlvrhq kihtgekpys cnkcgkvfsr hsylaehqtv
      421 htgekpykce ecgkafsvrs slithqliht grkpykckec dkvfgrkcfl tshqrihtre
      481 rpygcsqcgk ifsqksdlir hrkthtdekp ykcnkcgtaf refsdltahf lihsgekpye
      541 ckecgkvfry kssltshhri htgekpykcn rcgkvfsrss nlvchqkiht gekpykcnqc
      601 gkvfnqasyl trhqiihtge rpyrcskcgk afrgcsglta hlaihtekks heckecgkif
      661 tqkssltnhh rihigekpyk ctlcskvfsh nsdlaqhqrv hs
//
LOCUS       XP_011508821             840 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear body protein SP140 isoform X9 [Homo sapiens].
ACCESSION   XP_011508821
VERSION     XP_011508821.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011510519.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..840
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..840
                     /product="nuclear body protein SP140 isoform X9"
                     /calculated_mol_wt=95331
     Region          38..136
                     /region_name="HSR"
                     /note="HSR domain; pfam03172"
                     /db_xref="CDD:427178"
     Region          557..633
                     /region_name="SAND"
                     /note="SAND domain; pfam01342"
                     /db_xref="CDD:426213"
     Region          665..706
                     /region_name="PHD_SP110_140"
                     /note="PHD finger found in the Sp100/Sp140 family of
                     nuclear body components; cd15626"
                     /db_xref="CDD:277096"
     Site            order(665,670..671,674..679,686)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:277096"
     Region          730..833
                     /region_name="Bromo_SP100C_like"
                     /note="Bromodomain, SP100C_like subfamily. The SP100C
                     protein is a splice variant of SP100, a major component of
                     PML-SP100 nuclear bodies (NBs), which are poorly
                     understood. It is covalently modified by SUMO-1 and may
                     play a role in processes at the chromatin...; cd05501"
                     /db_xref="CDD:99933"
     Site            order(756,761,764,803,807,812)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99933"
     CDS             1..840
                     /gene="SP140"
                     /gene_synonym="LYSP100; LYSP100-A; LYSP100-B"
                     /coded_by="XM_011510519.2:110..2632"
                     /db_xref="GeneID:11262"
                     /db_xref="HGNC:HGNC:17133"
                     /db_xref="MIM:608602"
ORIGIN      
        1 maqqgqqgqm asgdsnlnfr mvaeiqnveg qnlqeqvcpe pifrffrenk veiasaitrp
       61 fpflmglrdr sfiseqmyeh fqeafrnlvp vtrvmycvls elektfgwsh lealfsrinl
      121 maypdlneiy rsfqnvcyeh splqmnnvnd ledrprllpy gkqensnach emddiavpqe
      181 alsssprcep gfssesceql alpkagggda edapsllpgg gvscklaiqi degeseempk
      241 llpydtevle sngmidaart ystapgekqg eeegrnsprk rnqdkekyqe spegrdketf
      301 dlktpqvtne gepekglcll pgegevscls aetfdlktpq vtnegepeke lsllpgegee
      361 gsddcsemcd geerqeasss larrgsvsse lenhpmneeg eseelassll ydnvpgaeqs
      421 ayenekcscv mcfseevpgs peartesdqa cgtmdtvdia nnstlgkpkr krrkkrghgw
      481 srmrmrrqen sqqndnskad gqvvssekka nvnlkdlski rgrkrgkpgt rftqsdraaq
      541 krvrsrasrk hkdetvdfka pllpvtcggv kgilhkkklq qgilvkciqt edgkwftpte
      601 feikgghars knwrlsvrcg gwplrwlmen gflpdpprir yrkkkrilks qnnssvdpcm
      661 rnldecevcr dggelfccdt csrvfhedch ippveaertp wncifcrmke spgsqqccqe
      721 sevlerqmcp eeqlkcefll lkvyccsess ffakipyyyy ireacqglke pmwldkikkr
      781 lnehgypqve gfvqdmrlif qnhrasykyk dfgqmgfrle aefeknfkev faiqetngnn
//
LOCUS       XP_016858809             617 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein 45 isoform X1 [Homo sapiens].
ACCESSION   XP_016858809
VERSION     XP_016858809.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017003320.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..617
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..617
                     /product="RNA-binding protein 45 isoform X1"
                     /calculated_mol_wt=68506
     Region          23..101
                     /region_name="RRM1_RBM45"
                     /note="RNA recognition motif 1 (RRM1) found in RNA-binding
                     protein 45 (RBM45) and similar proteins; cd12366"
                     /db_xref="CDD:409801"
     Region          <41..206
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     Region          263..336
                     /region_name="RRM2_RBM45"
                     /note="RNA recognition motif 2 (RRM2) found in RNA-binding
                     protein 45 (RBM45) and similar proteins; cd12367"
                     /db_xref="CDD:409802"
     Region          389..461
                     /region_name="RRM3_RBM45"
                     /note="RNA recognition motif 3 (RRM3) found in RNA-binding
                     protein 45 (RBM45) and similar proteins; cd12368"
                     /db_xref="CDD:409803"
     Region          534..601
                     /region_name="RRM4_RBM45"
                     /note="RNA recognition motif 4 (RRM4) found in RNA-binding
                     protein 45 (RBM45) and similar proteins; cd12369"
                     /db_xref="CDD:409804"
     CDS             1..617
                     /gene="RBM45"
                     /gene_synonym="DRB1; RB-1"
                     /coded_by="XM_017003320.2:111..1964"
                     /db_xref="GeneID:129831"
                     /db_xref="HGNC:HGNC:24468"
                     /db_xref="MIM:608888"
ORIGIN      
        1 mdeagssasg ggfrpgvdsl deppnsrifl viskytpesv lrerfspfgd iqdiwvvrdk
       61 htkeskgiaf vkfarssqac rameemhgqc lgpndtkpik vrvpgsgcpr gkewaswtsl
      121 hlllcrgegg vehpfpaadq tapglgtgaa lrrgspptkl rrvagkgtgc gvfaprertr
      181 qprppgdrta vaglplslal tnppalefta klvlayfeyf sdlplsdaqi siykkrknst
      241 fpqvfiaqsr ssgshrdved eeltrifvmi pksyteedlr ekfkvygdie ycsiiknkvt
      301 geskglgyvr ylkpsqaaqa iencdrsfra ilaepknkas esseqdyysn mrqealghep
      361 rvnmfpfeqq sefssfdknd srgqeaiskr lsvvsrvpft eeqlfsifdi vpgleycevq
      421 rdpysnyghg vvqyfnvasa iyakyklhgf qyppgnrigv sfiddgsnat dllrkmatqm
      481 vaaqlasmvw nnpsqqqfmq fggssgsqlp qiqtdvvlps ckkkapaetp vkerlfivfn
      541 phplpldvle difcrfgnli evylvsgknv gyakyadris andaiatlhg kilngvrlkv
      601 mladsprees nkrqrty
//
LOCUS       XP_047300775            1825 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF1A isoform X1 [Homo sapiens].
ACCESSION   XP_047300775
VERSION     XP_047300775.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444819.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1825
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1825
                     /product="kinesin-like protein KIF1A isoform X1"
                     /calculated_mol_wt=205659
     Region          4..361
                     /region_name="KISc_KIF1A_KIF1B"
                     /note="Kinesin motor domain, KIF1_like proteins; cd01365"
                     /db_xref="CDD:276816"
     Site            order(13,97,100,102..105,248)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276816"
     Site            order(307,310,313)
                     /site_type="other"
                     /note="microtubule interaction site [polypeptide binding]"
                     /db_xref="CDD:276816"
     Region          358..549
                     /region_name="Kinesin_assoc"
                     /note="Kinesin-associated; pfam16183"
                     /db_xref="CDD:435195"
     Region          525..639
                     /region_name="FHA_KIF1A"
                     /note="forkhead associated (FHA) domain found in
                     kinesin-like protein KIF1A; cd22726"
                     /db_xref="CDD:438778"
     Site            order(532..533,535..536,538..544,546..547,549..550,
                     559..560,562,627,629,631,635)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:438778"
     Region          658..>712
                     /region_name="ERM"
                     /note="Ezrin/radixin/moesin family; pfam00769"
                     /db_xref="CDD:425860"
     Region          839..886
                     /region_name="KIF1B"
                     /note="Kinesin protein 1B; pfam12423"
                     /db_xref="CDD:432544"
     Region          1275..1428
                     /region_name="DUF3694"
                     /note="Kinesin protein; pfam12473"
                     /db_xref="CDD:432581"
     Region          1706..1808
                     /region_name="PH_KIFIA_KIFIB"
                     /note="KIFIA and KIFIB protein pleckstrin homology (PH)
                     domain; cd01233"
                     /db_xref="CDD:269939"
     CDS             1..1825
                     /gene="KIF1A"
                     /gene_synonym="ATSV; C2orf20; HSN2C; MRD9; NESCAVS; SPG30;
                     UNC104"
                     /coded_by="XM_047444819.1:185..5662"
                     /db_xref="GeneID:547"
                     /db_xref="HGNC:HGNC:888"
                     /db_xref="MIM:601255"
ORIGIN      
        1 magasvkvav rvrpfnsrem srdskciiqm sgstttivnp kqpketpksf sfdysywsht
       61 spedinyasq kqvyrdigee mlqhafegyn vcifaygqtg agksytmmgk qekdqqgiip
      121 qlcedlfsri ndttndnmsy svevsymeiy cervrdllnp knkgnlrvre hpllgpyved
      181 lsklavtsyn diqdlmdsgn kartvaatnm netssrshav fniiftqkrh daetnittek
      241 vskislvdla gseradstga kgtrlkegan inkslttlgk visalaemds gpnknkkkkk
      301 tdfipyrdsv ltwllrenlg gnsrtamvaa lspadinyde tlstlryadr akqircnavi
      361 nedpnnklir elkdevtrlr dllyaqglgd itdtntvpgg pkyvsdlenn nlnrggtvne
      421 apdplstvtn alvgmspsss lsalssraas vsslherilf apgseeaier lketekiiae
      481 lnetweeklr rteairmere allaemgvam redggtlgvf spkktphlvn lnedplmsec
      541 llyyikdgit rvgredgerr qdivlsghfi keehcvfrsd srggseavvt lepcegadty
      601 vngkkvteps ilrsgnriim gkshvfrfnh peqarqerer tpcaetpaep vdwafaqrel
      661 lekqgidmkq emeqrlqele dqyrrereea tylleqqrld yesklealqk qmdsryypev
      721 neeeeepede vqwterecel alwafrkwkw yqftslrdll wgnaiflkea naisvelkkk
      781 vqfqfvlltd tlysplppdl lppeaakdre trpfprtiva vevqdqknga thywtleklr
      841 qrldlmremy draaevpssv iedcdnvvtg gdpfydrfpw frlvgssais gcnsypllnt
      901 cmsermaalt psptfsspds datepaeeqs vgeeeeeeee eedeeeedle ddvfpehalc
      961 dgrdpfydrp plfslvgraf vylsnllypv plvhrvaivs ekgevkgflr vavqaisade
     1021 eapdygsgvr qsgtakisfd dqhfekfqse scpvvgmsrs gtsqeelriv egqgqgadvg
     1081 psadevnnnt csavppegll ldssekaald gpldaaldhl rlgntftfrv tvlqassisa
     1141 eyadifcqfn fihrhdeafs teplkntgrg pplgfyhvqn iavevtksfi eyiksqpivf
     1201 evfghyqqhp fpplckdvls plrpsrrhfp rvmplskpvp atklstltrp cpgpchckyd
     1261 llvyfeicel eangdyipav vdhrggmpcm gtfllhqgiq rritvtllhe tgshirwkev
     1321 relvvgrirn tpetdeslid pnilslnils sgyihpaqdd rqfldsdipr tfyqfeaawd
     1381 ssmhnsllln rvtpyrekiy mtlsayieme nctqpavvtk dfcmvfysrd aklpasrsir
     1441 nlfgsgslra sesnrvtgvy elslchvada gspgmqrrrr rvldtsvayv rgeenlagwr
     1501 prsdslildh qweleklsll qevektrhyl llrekletaq rpvpealspa fsedseshgs
     1561 ssassplsae grpspleapn erqrelavkc lrllthtfnr eythshvcvs asesklsems
     1621 vtllrdpsms plgvatltps stcpslvegr ygatdlrtpq pcsrpaspep ellpeadskk
     1681 lpsparatet dkepqrllvp diqeirvspi vskkgylhfl ephtsgwarr fvvvrrpyay
     1741 mynsdkdtve rfvlnlataq veysedqqam lktpntfavc tehrgillqa asdkdmhdwl
     1801 yafnpllagt irsklsrrrs aqmrv
//
LOCUS       XP_047301968             242 aa            linear   PRI 20-MAR-2023
DEFINITION  inhibitor of growth protein 5 isoform X5 [Homo sapiens].
ACCESSION   XP_047301968
VERSION     XP_047301968.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446012.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..242
                     /product="inhibitor of growth protein 5 isoform X5"
                     /calculated_mol_wt=27561
     Region          16..106
                     /region_name="ING_ING5"
                     /note="Inhibitor of growth (ING) domain of inhibitor of
                     growth protein 5 (ING5); cd16863"
                     /db_xref="CDD:341096"
     Site            order(16,19..21,24,27,30,34,41,44..45,67..68,71,74..75,78,
                     81..82,85,88,91..92,95..96,98..99,102..103,106)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:341096"
     Region          189..237
                     /region_name="PHD_ING5"
                     /note="PHD finger found in inhibitor of growth protein 5
                     (ING5); cd15685"
                     /db_xref="CDD:277155"
     Site            order(190,197..205,213,216,224..225,227,229)
                     /site_type="other"
                     /note="H3K4me3 binding site [polypeptide binding]"
                     /db_xref="CDD:277155"
     CDS             1..242
                     /gene="ING5"
                     /gene_synonym="p28ING5"
                     /coded_by="XM_047446012.1:1817..2545"
                     /db_xref="GeneID:84289"
                     /db_xref="HGNC:HGNC:19421"
                     /db_xref="MIM:608525"
ORIGIN      
        1 mgarvtprds ggligienlp celqrnfqlm reldqrtedk kaeidilaae yistvktlsp
       61 dqrverlqki qnayskckey sddkvqlamq tyemvdkhir rldadlarfe adlkdkmegs
      121 dfessggrgl kkgrgqkekr gsrgrgrrts eedtpkkkkh kggseftdti lsvhpsdvld
      181 mpvdpnepty clchqvsyge migcdnpdcp iewfhfacvd lttkpkgkwf cprcvqekrk
      241 kk
//
LOCUS       XP_047302267             838 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat flightless-interacting protein 1 isoform X19
            [Homo sapiens].
ACCESSION   XP_047302267
VERSION     XP_047302267.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446311.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..838
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..838
                     /product="leucine-rich repeat flightless-interacting
                     protein 1 isoform X19"
                     /calculated_mol_wt=92896
     Region          42..302
                     /region_name="LRRFIP"
                     /note="LRRFIP family; pfam09738"
                     /db_xref="CDD:430789"
     Region          <505..764
                     /region_name="2A1904"
                     /note="K+-dependent Na+/Ca+ exchanger; TIGR00927"
                     /db_xref="CDD:273344"
     CDS             1..838
                     /gene="LRRFIP1"
                     /gene_synonym="FLAP-1; FLAP1; FLIIAP1; GCF-2; GCF2;
                     HUFI-1; TRIP"
                     /coded_by="XM_047446311.1:252..2768"
                     /db_xref="GeneID:9208"
                     /db_xref="HGNC:HGNC:6702"
                     /db_xref="MIM:603256"
ORIGIN      
        1 mtspaaaqsr eidclspeaq klaearlaak raaraearei rmkelerqqk eveerpekdf
       61 tekgsrnmpg lsaatlaslg gtssrrgsgd tsisidteas ireikelnel kdqiqdvegk
      121 ymqglkemkd slaeveekyk kamvsnaqld nektnfmyqv dtlkdmllel eeqlaesrrq
      181 yeeknkefer ekhahsilqf qfaevkealk qreemleeir qlqqkqassi reisdlqeti
      241 ewkdkkigal erqkeffdsv rserddlree vvmlkeelkk hgiilnseia tngetsdtln
      301 nvgyqgptkm tkeelnalks tgdgtlgras evevkneiva nvgkreilhn tekeqhtedt
      361 vkdcvdievf pagentedqk ssedtapflg tlagatyeeq vqsqilesss lpentvqves
      421 nevmgapddr trtplepsnc wsdldggnht envgeaavtq veeqagtvas cplghsddtv
      481 yhddkcmvev pqeletstgh slekeftnqe aaepkevpah stevgrdhne eegeetglrd
      541 ekpiktevpg spagtegncq eatgpstvdt qnepldmkep deeksdqqge aldssqkktk
      601 nkkkknkkkk spvpvetlkd vkkeltyqnt dlseikeeeq vkstdrksav eaqnevtenp
      661 kqkiaaesse nvdcpenpki kldgkldqeg ddvqtaaeev ladgdtldfe ddtvqssgpr
      721 aggeeldegv akdnakidga tqsspaepks edadrctlpe hespsqdisd aceaesterc
      781 emsehpsqtv rkaldsnsle nddlsapgre pghfnpesre dtrggnekgk skedctms
//
LOCUS       XP_047295858             284 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 60 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047295858
VERSION     XP_047295858.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439902.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 22% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..284
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..284
                     /product="ankyrin repeat domain-containing protein 60
                     isoform X1"
                     /calculated_mol_wt=30645
     Region          92..168
                     /region_name="Ubl_ANKRD60"
                     /note="ubiquitin-like (Ubl) domain found in ankyrin repeat
                     domain-containing protein 60 (ANKRD60) and similar
                     proteins; cd17063"
                     /db_xref="CDD:340583"
     CDS             1..284
                     /gene="ANKRD60"
                     /gene_synonym="bA196N14.3; C20orf86"
                     /coded_by="XM_047439902.1:1..855"
                     /db_xref="GeneID:140731"
                     /db_xref="HGNC:HGNC:16217"
ORIGIN      
        1 mtrgrawgmr raaagaggar aagptggasr lhpnagrrsg aragaqgcgg prvgsadsra
       61 lpaqplacar grsqrlvcdp kaasalpdla pdvfvlrvrl eetgemfrva ncrgdmtvre
      121 lkeeldlmvg ipfnlqrlqy ldegvlmddt tlkfhdvvpg giislciwhh dgwtelvlaa
      181 vegdpsklsc lgltedsfyr tansehfege kwkhwtsqra fvalyvashr ghfdavqyll
      241 ehalapasvs sviaifptyt kqsgkhlglp gpddwavhrv ykpl
//
LOCUS       XP_047296319            1342 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 335 isoform X1 [Homo sapiens].
ACCESSION   XP_047296319
VERSION     XP_047296319.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440363.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1342
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..1342
                     /product="zinc finger protein 335 isoform X1"
                     /calculated_mol_wt=144762
     Region          467..487
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(467,470,483,487)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          497..517
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(497,500,513,517)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          509..534
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          523..546
                     /region_name="zf-H2C2_5"
                     /note="C2H2-type zinc-finger domain; pfam13909"
                     /db_xref="CDD:404746"
     Region          529..545
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Region          564..584
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(564,567,580,584)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(569,571,573,575..576,579..580,583,597,599,603..604,
                     607..608,611,628,630,632,634..635,638..639,642)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          577..601
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          592..612
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          623..643
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          651..672
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          680..699
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1021..1041
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1021,1024,1037,1041)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          1049..1069
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1049,1052,1065,1069)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(1054,1056,1058,1060..1061,1064..1065,1068,1082,1084,
                     1088..1089,1092..1093,1096,1110,1112,1114,1116..1117,
                     1120..1121,1125)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          1075..1099
                     /region_name="zf-H2C2_5"
                     /note="C2H2-type zinc-finger domain; pfam13909"
                     /db_xref="CDD:404746"
     Region          1077..1097
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1089..1114
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          1105..1126
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..1342
                     /gene="ZNF335"
                     /gene_synonym="MCPH10; NIF-1; NIF1; NIF2"
                     /coded_by="XM_047440363.1:482..4510"
                     /db_xref="GeneID:63925"
                     /db_xref="HGNC:HGNC:15807"
                     /db_xref="MIM:610827"
ORIGIN      
        1 meenevesss daapgpgrpe epsesglgvg tseavsadss daaaapgqae addsgvgqss
       61 drgsrsqeev sessssadpl pnsylpdsss vshgpvagvt ggppalvhss alpdpnmlvs
      121 dctasssdlg saidkiiest igpdliqnci tvtsaedgga ettrylilqg pddgapmtsp
      181 mssstlahsl aaiealadgp tststcleaq ggpsspvqlp pasgaeepdl qsleammevv
      241 vvqqfkckmc qyrsstkatl lrhmrerhfr pvaaaaaaag kkgrlrkwst stksqeeegp
      301 eeeddddivd agaiddleed sdynpaedep rgrqlrlqrp tpstprprrr pgrprklprl
      361 eisdlpdgve geplvssqsg qsppepqdpe apsssgpghl vamgkvsrtp veagvsqsda
      421 enaapscpde hdtlprrrgr psrrflgkky rkyyykspkp llrpflcric gsrflshedl
      481 rfhvnsheag dpqlfkclqc syrsrrwssl kehmfnhvgs kpykcdecsy tsvyrkdvir
      541 haavhsrdrk krpdptpkls sfpcpvcgrv ypmqkrltqh mkthstekph mcdkcgksfk
      601 krytfkmhll thiqavanrr fkcefcefvc edkkallnhq lshvsdkpfk csfcpyrtfr
      661 edfllshvav khtgakpfac eychfstrhk knlrlhvrcr hassfeewgr rhpeeppsrr
      721 rpffslqqie elkqqhsaap gpppsspgpp eippeattfq sseapsllcs dtlggatiiy
      781 qqgaeestam atqtaldlll nmsaqrelgg talqvavvks edveaglasp ggqpspegat
      841 pqvvtlhvae pgggaaaesq lgppdlpqit lapgpfggtg ysvitappme egtsapgtpy
      901 seepageaaq avvvsdtlke agthyimatd gtqlhhielt adgsisfpsp dalasgakwp
      961 llqcgglprd gpeppspakt hcvgdsqssa ssppatskal glavppspps aataaskkfs
     1021 ckicaeafpg raemeshkra hagpgafkcp dcpfsarqwp evrahmaqhs slrphqcsqc
     1081 sfasknkkdl rrhmlthtke kpfachlcgq rfnrnghlkf hiqrlhspdg rksgtptara
     1141 ptqtptqtii lnsddetlat lhtalqsshg vlgperlqqa lsqehiivaq eqtvtnqeea
     1201 ayiqeittad gqtvqhlvts dnqvqyiisq dgvqhllpqe yvvvpeghhi qvqegqithi
     1261 qyeqgapflq esqiqyvpvs pgqqlvtqaq leaaahsavt avadaamaqa qglfgtdetv
     1321 pehiqqlqhq gieydvitla dd
//
LOCUS       XP_011527397             225 aa            linear   PRI 20-MAR-2023
DEFINITION  sorting nexin-21 isoform X2 [Homo sapiens].
ACCESSION   XP_011527397
VERSION     XP_011527397.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011529095.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..225
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..225
                     /product="sorting nexin-21 isoform X2"
                     /calculated_mol_wt=25248
     Region          1..94
                     /region_name="PX_domain"
                     /note="The Phox Homology domain, a phosphoinositide
                     binding module; cl02563"
                     /db_xref="CDD:445832"
     Site            order(23..25,50..51,64)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:132768"
     Region          96..165
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     Region          96..120
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          133..164
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..225
                     /gene="SNX21"
                     /gene_synonym="C20orf161; dJ337O18.4; PP3993; SNX-L; SNXL"
                     /coded_by="XM_011529095.3:514..1191"
                     /db_xref="GeneID:90203"
                     /db_xref="HGNC:HGNC:16154"
                     /db_xref="MIM:619200"
ORIGIN      
        1 mlytlavigp gppdcqpaqi srrysdferl hrnlqrqfrg pmaaisfprk rlrrnftaet
       61 iarrsrafeq flghlqavpe lrhapdlqdf fvlpelrraq sltctglyre alalwanawq
      121 lqaqlgtpsg pdrplltlag lavchqeled pgearaccek alqllgdksl hpllapflea
      181 hvrlswrlgl dkrqsearlq alqeagltpt pppslkelli kevld
//
LOCUS       XP_047303691            1279 aa            linear   PRI 20-MAR-2023
DEFINITION  sterol regulatory element-binding protein cleavage-activating
            protein isoform X1 [Homo sapiens].
ACCESSION   XP_047303691
VERSION     XP_047303691.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447735.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1279
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1279
                     /product="sterol regulatory element-binding protein
                     cleavage-activating protein isoform X1"
                     /calculated_mol_wt=139599
     Region          <11..>466
                     /region_name="2A060601"
                     /note="Niemann-Pick C type protein family; TIGR00917"
                     /db_xref="CDD:273337"
     Region          308..452
                     /region_name="Sterol-sensing"
                     /note="Sterol-sensing domain of SREBP cleavage-activation;
                     pfam12349"
                     /db_xref="CDD:432497"
     Region          771..802
                     /region_name="WD40"
                     /note="WD40 repeats; smart00320"
                     /db_xref="CDD:197651"
     Region          959..1005
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1011..1047
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1078..>1235
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          1082..1116
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1123..1157
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1163..1197
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..1279
                     /gene="SCAP"
                     /coded_by="XM_047447735.1:182..4021"
                     /db_xref="GeneID:22937"
                     /db_xref="HGNC:HGNC:30634"
                     /db_xref="MIM:601510"
ORIGIN      
        1 mtlterlrek israfynhgl lcasypipii lftgfcilac cypllklplp gtgpvefttp
       61 vkdyspppvd sdrkqgepte qpewyvgapv ayvqqifvks svfpwhknll avdvfrspls
      121 rafqlveeir nhvlrdssgi rsleelclqv tdllpglrkl rnllpehgcl llspgnfwqn
      181 dwerfhadpd iigtihqhep ktlqtsatlk dllfgvpgky sgvslytrkr mvsytitlvf
      241 qhyhakflgs lrarlmllhp spncslraes lvhvhfkeei gvaeliplvt tyiilfayiy
      301 fstrkidmvk skwglalaav vtvlssllms vglctlfglt ptlnggeifp ylvvviglen
      361 vlvltksvvs tpvdlevklr iaqglssesw simknmatel giiligyftl vpaiqefclf
      421 avvglvsdff lqmlffttvl sidirrmela dlnkrlppea clpsakpvgq ptryerqlav
      481 rpstphtitl qpssfrnlrl pkrlrvvyfl artrlaqrli magtvvwigi lvytdpaglr
      541 nylaaqvteq splgegalap mpvpsgmlpp shpdpafsif ppdapklpen qtspgesper
      601 ggpaevvhds pvpevtwgpe deelwrklsf rhwptlfsyy nitlakryis llpvipvtlr
      661 lnprealegr hpqdgrsawp ppgpipaghw eagpkgpggv qahgdvtlyk vaalglatgi
      721 vlvllllcly rvlcprnygq lgggpgrrrr gelpcddygy appeteivpl vlrghlmdie
      781 clasdgmllv scclaghvcv wdaqtgdclt riprpgrqrr dsgvgsglea qeswerlsdg
      841 gkagpeepgd spplrhrprg ppppslfgdq pdltclidtn fsaqprssqp tqpeprhrav
      901 cgrsrdspgy dfsclvqrvy qeeglaavct palrppspgp vlsqapedeg gspekgspsl
      961 awapsaegsi wslelqgnli vvgrssgrle vwdaiegvlc csseevssgi talvfldkri
     1021 vaarlngsld ffslethtal splqfrgtpg rgsspaspvy sssdtvachl thtvpcahqk
     1081 pitalkaaag rlvtgsqdht lrvfrledsc clftlqghsg aittvyidqt mvlasggqdg
     1141 aiclwdvltg srvshvfahr gdvtsltctt scvissgldd lisiwdrstg ikfysiqqdl
     1201 gcgaslgvis dnllvtggqg cvsfwdlnyg dllqtvylgk nseaqparqi lvldnaaivc
     1261 nfgselslvy vpsvlekld
//
LOCUS       XP_011510932             162 aa            linear   PRI 20-MAR-2023
DEFINITION  germinal center-associated signaling and motility protein isoform
            X4 [Homo sapiens].
ACCESSION   XP_011510932
VERSION     XP_011510932.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011512630.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..162
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..162
                     /product="germinal center-associated signaling and
                     motility protein isoform X4"
                     /calculated_mol_wt=18946
     Region          48..137
                     /region_name="HGAL"
                     /note="Germinal center-associated lymphoma; pfam15666"
                     /db_xref="CDD:434841"
     CDS             1..162
                     /gene="GCSAM"
                     /gene_synonym="GCAT2; GCET2; HGAL"
                     /coded_by="XM_011512630.3:641..1129"
                     /db_xref="GeneID:257144"
                     /db_xref="HGNC:HGNC:20253"
                     /db_xref="MIM:607792"
ORIGIN      
        1 mpwnvrmqsp kqrtsrcwdh hiaegcfclp wkkilifekr qdsqnenerm sstpiqqdnv
       61 dqtyseelcy tlinhrvlct rpsgnsaeey yenvpckaer preslggtet eysllhmpst
      121 dprharsped eyellmphri sshflqqprp lmapsetqfs hl
//
LOCUS       XP_047304577             303 aa            linear   PRI 20-MAR-2023
DEFINITION  poly(rC)-binding protein 4 isoform X5 [Homo sapiens].
ACCESSION   XP_047304577
VERSION     XP_047304577.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448621.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..303
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..303
                     /product="poly(rC)-binding protein 4 isoform X5"
                     /calculated_mol_wt=31203
     Region          40..109
                     /region_name="KH-I"
                     /note="K homology (KH) RNA-binding domain, type I;
                     cl00098"
                     /db_xref="CDD:444693"
     Region          124..>153
                     /region_name="KH-I"
                     /note="K homology (KH) RNA-binding domain, type I;
                     cl00098"
                     /db_xref="CDD:444693"
     Region          221..287
                     /region_name="KH-I_PCBP4_rpt3"
                     /note="third type I K homology (KH) RNA-binding domain
                     found in poly(rC)-binding protein 4 (PCBP4) and similar
                     proteins; cd22523"
                     /db_xref="CDD:411951"
     Site            order(231..235,237..241,243..245,248,256..257,259,267)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411951"
     CDS             1..303
                     /gene="PCBP4"
                     /gene_synonym="CBP; LIP4; MCG10"
                     /coded_by="XM_047448621.1:419..1330"
                     /db_xref="GeneID:57060"
                     /db_xref="HGNC:HGNC:8652"
                     /db_xref="MIM:608503"
ORIGIN      
        1 meagqvaart hsqvavapas pdrmsgsdgg leeepelsit ltlrmlmhgk evgsiigkkg
       61 etvkrireqs saritisegs cperittitg staavfhavs miafkldedl caapanggnv
      121 srppvtlrlv ipasqcgsli gkagtkikei resppkgati pyhpslslgt vllsanqgfs
      181 vqgqygavtp aevtklqqls shavpfatps vvpgldpgtq tssqeflvpn dligcvigrq
      241 gskiseirqm sgahikignq aegagerhvt itgspvsial aqylitawaa aglgglhcqd
      301 gss
//
LOCUS       XP_047305093             331 aa            linear   PRI 20-MAR-2023
DEFINITION  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_047305093
VERSION     XP_047305093.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449137.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 12% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..331
                     /product="UDP-GalNAc:beta-1,
                     3-N-acetylgalactosaminyltransferase 1 isoform X1"
                     /calculated_mol_wt=39381
     Region          92..285
                     /region_name="Galactosyl_T"
                     /note="Galactosyltransferase; pfam01762"
                     /db_xref="CDD:426415"
     CDS             1..331
                     /gene="B3GALNT1"
                     /gene_synonym="B3GALANT1; B3GALT3; beta3Gal-T3; galT3;
                     Gb4Cer; GLCT3; GLOB; P1"
                     /coded_by="XM_047449137.1:561..1556"
                     /db_xref="GeneID:8706"
                     /db_xref="HGNC:HGNC:918"
                     /db_xref="MIM:603094"
ORIGIN      
        1 masalwtvlp srmslrslkw sllllsllsf fvmwylslph ynviervnwm yfyeyepiyr
       61 qdfhftlreh sncshqnpfl vilvtshpsd vkarqairvt wgekkswwgy evltffllgq
      121 eaekedkmla lsledehlly gdiirqdfld tynnltlkti mafrwvtefc pnakyvmktd
      181 tdvfintgnl vkyllnlnhs ekfftgypli dnysyrgfyq kthisyqeyp fkvfppycsg
      241 lgyimsrdlv priyemmghv kpikfedvyv giclnllkvn ihipedtnlf flyrihldvc
      301 qlrrviaahg fsskeiitfw qvmlrnttch y
//
LOCUS       XP_006713453             704 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat flightless-interacting protein 2 isoform X5
            [Homo sapiens].
ACCESSION   XP_006713453
VERSION     XP_006713453.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006713390.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..704
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..704
                     /product="leucine-rich repeat flightless-interacting
                     protein 2 isoform X5"
                     /calculated_mol_wt=79866
     Region          275..629
                     /region_name="LRRFIP"
                     /note="LRRFIP family; pfam09738"
                     /db_xref="CDD:430789"
     Region          611..>704
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..704
                     /gene="LRRFIP2"
                     /gene_synonym="HUFI-2"
                     /coded_by="XM_006713390.2:467..2581"
                     /db_xref="GeneID:9209"
                     /db_xref="HGNC:HGNC:6703"
                     /db_xref="MIM:614043"
ORIGIN      
        1 mgtpasgrkr tpvkdrfsae dealsniare aearlaakra araeardirm relerqqkee
       61 dseraryshr sshhrpylgv edalsirsvg shrydmfkdr ssrlsslnhs yshshgmkkr
      121 ssdshkdlls glyfdqrnys slrhskptsa yytrqsssly sdplatyksd rasptansgl
      181 lrsaslasly ngglynpygp rtpsecsyys srissarssp gftnddtasi vssdrasrgr
      241 resvvsaady fsrsnrrgsv vsevddisip dlssldeksd kqyaenytrp ssrnsasatt
      301 plsgnssrrg sgdtsslidp dtslselrdi ydlkdqiqdv egrymqglke lkeslsevee
      361 kykkamvsna qldneknnli yqvdtlkdvi eeqeeqmaef yreneekske lerqkhmcsv
      421 lqhkmeelke glrqrdelie ekqrmqqkid tmtkevfdlq etllwkdkki galekqkeyi
      481 aclrnerdml reeladlqet vktgekhglv iipdgtpngd vshepvagai tvvsqeaaqv
      541 lesagegpld vrlrklagek eellsqirkl klqleeerqk csrndgtvgd laglqngsdl
      601 qfiemqrdan rqiseykfkl skaeqdittl eqsisrlegq vlryktaaen aekvedelka
      661 ekrklqrelr taldkieeme mtnshlakrl ekmkanrtal laqq
//
LOCUS       XP_011532597            1104 aa            linear   PRI 20-MAR-2023
DEFINITION  SLIT-ROBO Rho GTPase-activating protein 3 isoform X2 [Homo
            sapiens].
ACCESSION   XP_011532597
VERSION     XP_011532597.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534295.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1104
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1104
                     /product="SLIT-ROBO Rho GTPase-activating protein 3
                     isoform X2"
                     /calculated_mol_wt=124946
     Region          26..278
                     /region_name="F-BAR_srGAP3"
                     /note="The F-BAR (FES-CIP4 Homology and
                     Bin/Amphiphysin/Rvs) domain of Slit-Robo GTPase Activating
                     Protein 3; cd07684"
                     /db_xref="CDD:153368"
     Site            order(31,34,41,44..45,48,51..52,55..56,59,63,66,70,109,
                     112,212,216,241,245,248,251..252,255,259,262,266,270,
                     273..274,277)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153368"
     Region          510..694
                     /region_name="RhoGAP_srGAP"
                     /note="RhoGAP (GTPase-activator protein [GAP] for Rho-like
                     small GTPases) domain present in srGAPs. srGAPs are
                     components of the intracellular part of Slit-Robo
                     signalling pathway that is important for axon guidance and
                     cell migration. srGAPs contain an...; cd04383"
                     /db_xref="CDD:239848"
     Site            order(547,586,590,659,662..663,685)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239848"
     Site            547
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239848"
     Region          753..805
                     /region_name="SH3_srGAP1-3"
                     /note="Src homology 3 domain of Slit-Robo GTPase
                     Activating Proteins 1, 2, and 3; cd11955"
                     /db_xref="CDD:212888"
     Site            order(758,760,763,767,785..786,799,801..802)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212888"
     CDS             1..1104
                     /gene="SRGAP3"
                     /gene_synonym="ARHGAP14; MEGAP; SRGAP2; WRP"
                     /coded_by="XM_011534295.3:696..4010"
                     /db_xref="GeneID:9901"
                     /db_xref="HGNC:HGNC:19744"
                     /db_xref="MIM:606525"
ORIGIN      
        1 mssqtkfkkd keiiaeyeaq ikeirtqlve qfkcleqqse srlqllqdlq effrrkaeie
       61 leysrslekl aerfsskirs srehqfkkdq yllspvncwy lvlhqtrres rdhatlndif
      121 mnnvivrlsq isedvirlfk kskeiglqmh eellkvtnel ytvmktyhmy haesisaesk
      181 lkeaekqeek qfnksgdlsm nllrhedrpq rrssvkkiek mkekrqakys enklkctkar
      241 ndyllnlaat naaiskyyih dvsdlidccd lgfhaslart frtylsaeyn letsrhegld
      301 vienavdnld srsdkhtvmd mcnqvfcppl kfefqphmgd evcqvsaqqp vqtellmryh
      361 qlqsrlatlk ieneevrktl datmqtlqdm ltvedfdvsd afqhsrstes vksaasetym
      421 skiniakrra nqqetemfyf tkfkeyvngs nlitklqakh dllkqtlgeg eraecgttsr
      481 rdgrlrlphf pwpscppaph fvphpalqgr rnartrnqds gqaiplvves ciryinlygl
      541 qqqgifrvpg sqvevndikn sfergedplv ddqnerdins vagvlklyfr glenplfpke
      601 rfqdlistik lenpaervhq iqqilvtlpr vvivvmrylf aflnhlsqys denmmdpynl
      661 aicfgptlmh ipdgqdpvsc qahinevikt iiihheaifp sprelegpvy ekcmaggeey
      721 cdsphsepga idevdhdngt ephtsdeeve qieaiakfdy mgrsprelsf kkgaslllyh
      781 rasedwwegr hngvdgliph qyivvqdmdd afsdslsqka dseassgpll ddkasskndl
      841 qsptehisdy gfggvmgrvr lrsdgaaipr rrsggdthsp prglgpsidt ppraaacpss
      901 phkipltrgr iespekrrma tfgsagsiny pdkkalsegh smrstcgstr hsslgdhksl
      961 eaealaedie ktmstalhel relerqntvk qapdvvldtl eplknppgpv ssepasplht
     1021 ivirdpdaam rrssssstem mttfkpalsa rlagaqlrpp pmrpvrpvvq hrsssssssg
     1081 vgspavtpte kmfpnssadk sgtm
//
LOCUS       XP_016863194             768 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-adducin isoform X3 [Homo sapiens].
ACCESSION   XP_016863194
VERSION     XP_016863194.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017007705.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..768
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..768
                     /product="alpha-adducin isoform X3"
                     /calculated_mol_wt=84221
     Region          145..391
                     /region_name="Aldolase_II"
                     /note="Class II Aldolase and Adducin head (N-terminal)
                     domain. Aldolases are ubiquitous enzymes catalyzing
                     central steps of carbohydrate metabolism. Based on
                     enzymatic mechanisms, this superfamily has been divided
                     into two distinct classes (Class I and II); cl00214"
                     /db_xref="CDD:444755"
     Site            order(151,155,163,188,190..191,241,243..244,249..251,259,
                     261..262,273,301,312,319,323,330,348)
                     /site_type="other"
                     /note="intersubunit interface [polypeptide binding]"
                     /db_xref="CDD:238232"
     Site            order(168,185..186,211..213,239,241,302)
                     /site_type="active"
                     /db_xref="CDD:238232"
     Site            order(239,241,302)
                     /site_type="other"
                     /note="Zn2+ binding site [ion binding]"
                     /db_xref="CDD:238232"
     Region          <624..>725
                     /region_name="DedD"
                     /note="Cell division protein DedD (periplasmic protein
                     involved in septation) [Cell cycle control, cell division,
                     chromosome partitioning]; COG3147"
                     /db_xref="CDD:225689"
     CDS             1..768
                     /gene="ADD1"
                     /gene_synonym="ADDA"
                     /coded_by="XM_017007705.2:300..2606"
                     /db_xref="GeneID:118"
                     /db_xref="HGNC:HGNC:243"
                     /db_xref="MIM:102680"
ORIGIN      
        1 mngdsraavv tspppttaph keryfdrvde nnpeylrern mapdlrqdfn mmeqkkrvsm
       61 ilqspafcee lesmiqeqfk kgknptglla lqqiadfmtt nvpnvypaap qggmaalnms
      121 lgmvtpvndl rgsdsiaydk gekllrckla afyrladlfg wsqliynhit trvnseqehf
      181 livpfgllys evtasslvki nlqgdivdrg stnlgvnqag ftlhsaiyaa rpdvkcvvhi
      241 htpagaavsa mkcgllpisp ealslgevay hdyhgilvde eekvliqknl gpkskvlilr
      301 nhglvsvges veeafyyihn lvvaceiqvr tlasaggpdn lvllnpekyk aksrspgspv
      361 gegtgsppkw qigeqefeal mrmldnlgyr tgypyrypal rekskkysdv evpasvtgys
      421 fasdgdsgtc splrhsfqkq qrektrwlns grgdeaseeg qngsspkskt kwtkedghrt
      481 stsavpnlfv plntnpkevq emrnkireqn lqdiktagpq sqvlcgvvmd rslvqdapls
      541 dctetiegle lteqtfspak slsfrkgelv taskaiieke yqphvivstt gpnpfttltd
      601 releeyrrev erkqkgseen ldeareqkek sppdqpavph pppstpikle edlvpepttg
      661 ddsdaatfkp tlpdlspdep sealgfpmle keeeahrpps pteapteasp epapdpapva
      721 eeaapsavee gaaadpgsdg spgkspskkk kkfrtpsflk kskkksds
//
LOCUS       XP_047305669             365 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform X1
            [Homo sapiens].
ACCESSION   XP_047305669
VERSION     XP_047305669.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449713.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..365
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..365
                     /product="phosphatidylcholine:ceramide
                     cholinephosphotransferase 2 isoform X1"
                     /calculated_mol_wt=42149
     Region          220..293
                     /region_name="PAP2_C"
                     /note="PAP2 superfamily C-terminal; pfam14360"
                     /db_xref="CDD:433902"
     CDS             1..365
                     /gene="SGMS2"
                     /gene_synonym="CDL; SMS2"
                     /coded_by="XM_047449713.1:752..1849"
                     /db_xref="GeneID:166929"
                     /db_xref="HGNC:HGNC:28395"
                     /db_xref="MIM:611574"
ORIGIN      
        1 mdiietakle ehlenqpsdp tntyarpaep veeenkngng kpkslssglr kgtkkypdyi
       61 qiamptesrn kfplewwktg iafiyavfnl vlttvmitvv hervppkels pplpdkffdy
      121 idrvkwafsv seingiilvg lwitqwlflr yksivgrrfc fiigtlylyr citmyvttlp
      181 vpgmhfqcap klngdsqakv qrilrlisgg glsitgshil cgdflfsght vtltltylfi
      241 keysprhfww yhlicwllsa agiicilvah ehytidviia yyittrlfww yhsmaneknl
      301 kvssqtnfls rawwfpifyf feknvqgsip ccfswplswp pgcfkssckk ysrvqkiged
      361 nekst
//
LOCUS       XP_005262980             333 aa            linear   PRI 20-MAR-2023
DEFINITION  N-acylethanolamine-hydrolyzing acid amidase isoform X7 [Homo
            sapiens].
ACCESSION   XP_005262980
VERSION     XP_005262980.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005262923.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..333
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..333
                     /product="N-acylethanolamine-hydrolyzing acid amidase
                     isoform X7"
                     /calculated_mol_wt=36946
     Region          32..91
                     /region_name="NAAA-beta"
                     /note="beta subunit of N-acylethanolamine-hydrolyzing acid
                     amidase; pfam15508"
                     /db_xref="CDD:434765"
     Region          117..333
                     /region_name="Ntn_AC_NAAA"
                     /note="AC_NAAA This conserved domain includes two closely
                     related proteins, acid ceramidase (AC, also known as
                     N-acylsphingosine amidohydrolase), and
                     N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC
                     catalyzes the hydrolysis of ceramide to sphingosine
                     and...; cd01903"
                     /db_xref="CDD:238886"
     CDS             1..333
                     /gene="NAAA"
                     /gene_synonym="ASAHL; PLT"
                     /coded_by="XM_005262923.4:65..1066"
                     /db_xref="GeneID:27163"
                     /db_xref="HGNC:HGNC:736"
                     /db_xref="MIM:607469"
ORIGIN      
        1 mrtadrearp glpsllllll agaglsaasp paaprfnvsl dsvpelrwlp vlrhydldlv
       61 raamaqvigd rvpkwvhvli gkvvlelerf lpqpftgeir gmcdfmnlsl adcllvnlay
      121 essvfctsiv aqdsrghiyh grnldypfgn vlrkltvdvq flkngqiaft gttfigyvgl
      181 wtgqsphkft vsgderdkgw wwenaiaalf rrhipvswli ratlsesenf eaavgklakt
      241 pliadvyyiv ggtspregvv itrnrdgpad iwpldplnga wfrvetnydh wkpapkeddr
      301 rtsaikalna tgqanlslea lfqilsvvpv ynk
//
LOCUS       XP_047306138             739 aa            linear   PRI 20-MAR-2023
DEFINITION  amyloid beta precursor protein binding family B member 2 isoform X7
            [Homo sapiens].
ACCESSION   XP_047306138
VERSION     XP_047306138.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047450182.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..739
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..739
                     /product="amyloid beta precursor protein binding family B
                     member 2 isoform X7"
                     /calculated_mol_wt=81143
     Region          292..320
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Site            order(306,317)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          395..534
                     /region_name="PTB1_Fe65"
                     /note="Fe65 N-terminal Phosphotyrosine-binding (PTB)
                     domain; cd01272"
                     /db_xref="CDD:269970"
     Site            order(410,478,497)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:269970"
     Site            order(477..482,497,519,523)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269970"
     Region          563..689
                     /region_name="PTB2_Fe65"
                     /note="Fe65 C-terminal Phosphotyrosine-binding (PTB)
                     domain; cd01271"
                     /db_xref="CDD:269969"
     Site            order(574,648,667)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269969"
     Site            order(585,587,635..636,638..645,647,655,661,671,673,676,
                     680,683..684,686..687)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:269969"
     CDS             1..739
                     /gene="APBB2"
                     /gene_synonym="FE65L; FE65L1"
                     /coded_by="XM_047450182.1:616..2835"
                     /db_xref="GeneID:323"
                     /db_xref="HGNC:HGNC:582"
                     /db_xref="MIM:602710"
ORIGIN      
        1 msevlpadsg vdtlavfmas sgttdvtnrn spatppntln lrsshnelln aeikhtetkn
       61 stppkcrkky altniqaamg lsdpaaqpll gngsaniklv kngenqlrka aeqgqqdpnk
      121 nlsptavini tseklegkep hpqdssscei lpsqprrtks flnyyadlet sareleqnrg
      181 nhhgtaeeks qpvqgqasti igngdlllqk pnrpqssped gqvatvsssp etkkdhpktg
      241 aktdcalhri qnlapsdees swttlsqdsa spsspdetdi wsdhsfqtdp dlppgwkrvs
      301 diagtyywhi ptgttqwerp vsipadlqgs rkgslssvtp sptpenedlh aatvnpdpsl
      361 kefegatlry aslklrnaph pddddscsin sdpeakcfav rslgwvemae edlapgkssv
      421 avnncirqls yckndirdtv giwgegkdmy lilendmlsl vdpmdrsvlh sqpivsirvw
      481 gvgrdngrer dfayvardkd trilkchvfr cdtpakaiat slheicskim aerknakala
      541 csslqeranv nldvplqvdf ptpktelvqk fhvqylgmlp vdkpvgmdil nsaienlmts
      601 snkedwlsvn mnvadatvtv isekneeevl vecrvrflsf mgvgkdvhtf afimdtgnqr
      661 fechvfwcep nagnvseavq aacmlryqkc lvarppsqkv rpppppadsv trrvttnvkr
      721 gvlslidtlk qkrpvtemp
//
LOCUS       XP_047272219            5049 aa            linear   PRI 20-MAR-2023
DEFINITION  bridge-like lipid transfer protein family member 1 isoform X7 [Homo
            sapiens].
ACCESSION   XP_047272219
VERSION     XP_047272219.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416263.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5049
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..5049
                     /product="bridge-like lipid transfer protein family member
                     1 isoform X7"
                     /calculated_mol_wt=559623
     Region          4424..5031
                     /region_name="FSA_C"
                     /note="Fragile site-associated protein C-terminus;
                     pfam10479"
                     /db_xref="CDD:313663"
     CDS             1..5049
                     /gene="BLTP1"
                     /gene_synonym="ALKKUCS; FSA; KIAA1109; Tweek"
                     /coded_by="XM_047416263.1:401..15550"
                     /db_xref="GeneID:84162"
                     /db_xref="HGNC:HGNC:26953"
                     /db_xref="MIM:611565"
ORIGIN      
        1 mdqrknesiv psitqledfl tehnsnvvwl lvatilscgw iiyltyynsr nvgliltlvl
       61 nrlykhgyih igsfsfsvls gkvmvreiyy itedmsiriq dgfiifrwwk mynpkqkqhd
      121 pkaetrlyit vndfefhvyn rsdlygrlqe lfgleptiip pkkdddktre igrtrtqski
      181 ervkvktesq dptsswrsli pvikvnvstg rlafgnhyqp qtlcinfdda fltyttkpps
      241 shldqfmhiv kgklenvrvm lvpspryvgl qndepprlmg egfvvmqsnd vdiyyymdep
      301 glvpeeteen iegemssedc klqdlppcwg ldivcgkgtd fnygpwadrq rdclwkfffp
      361 pdyqvlkvse iaqpgrprqi lafelrmnii adatidllft knretnavhv nvgagsylei
      421 nipmtveeng ytpaikgqll hvdattsmqy rtlleaemla fhinasypri wnmpqtwqce
      481 levykatyhf ifaqknfftd liqdwssdsp pdifsfvpyt wnfkimfhqf emiwaanqhn
      541 widcstkqqe nvylaacget lnidfslpft dfvpatcntk fslrgedvdl hlflpdchps
      601 kyslfmlvkn chpnkmihdt gipaecqsgq ktvkpkwrnv tqeksgwvec wtvpsvmlti
      661 dytwhpiypq kadeqlkqsl semeetmlsv lrpsqktsdr vvsspstssr ppidpselpp
      721 dklhvemels pdsqitlygp llnaflcike nyfgeddmym dfeevisspv lslstssssg
      781 wtavgmendk kenegsaksi hplalrpwdi tvlvnlykvh grlpvhgttd gpecptafle
      841 rlcfemkkgf retmlqlils plnvfvsdny qrppvdevlr eghinlsglq lrahamfsae
      901 glplgsdsle yawlidvqag sltakvtapq lscipgpcpt sddlkytmir lavdgadiyi
      961 vehgcatnik mgairvancn lhnqsvgegi saaiqdfqvr qyieqlnncr iglqpavlrr
     1021 aywleagsan lglitvdial aadhhskhea qrhflethda rtkrlwflwp ddilknkrcr
     1081 nkcgclggcr ffggtvtgld ffkleeltps sssafsstsa esdmyygqsl lqpgewiitk
     1141 eipkiidgnv ngmkrkewen ksvgieverk tqhlslqvpl rshsssssse enssssaaqp
     1201 llagekesps svaddhlvqk eflhgtkrdd gqasipteis gnspvspntq dksvgqsplr
     1261 splkrqasvc strlgstksl taafygdkqp vtvgvqfssd vsrsdenvld spkqrrsfgs
     1321 fpytpsadsn sfhqyrsmds smsmadseay fsaaeefepi ssdegpgtyp grkkkkkqtq
     1381 qidysrgsiy hsvegpltgh gesiqdsrtl pfkthpsqas fvsalggedd viehlyiveg
     1441 ektveseqit pqqpvmncyq tyltqfqvin wsvkhptnkr tsksslhrpl dldtptsees
     1501 sssfeqlsvp tfkvikqglt anslldrgmq lsgstsntpy tplekkladn tddetlteew
     1561 tldqpvsqtr ttaivevkgt vdivltplva ealdryieam vhcastrhpa aivddlhakv
     1621 lreavqnskt tfsenlsskq dirgtkteqs tigttnqgqa qtnltmkqdn vtikglqtnv
     1681 sipkvnlcll qasveesptt apsrsvthvs lvalcfdria tqvrmnrgvv eetsnnaepg
     1741 rtsnfdryvh atkmqpqssg slrsnagaek gkeiaaklni hrvhgqlrgl dttdigtcai
     1801 taipfekskv lftleeldef tfvdetdqqa vpdvtrigps qekwgwimfe cglenltikg
     1861 grqsgavlyn sfgimgkasd terggvltsn nssdsptgsg yntdvsddnl pcdrtspssd
     1921 lngnsvsdeq degvesddlk kdlplmpppp dscsmkltik eiwfsfaapt nvrshthafs
     1981 rqlnllstat pavgawlvpi dqlksslnkl etegtlrica vmgcimteal enksvhfplr
     2041 skynrltkva rflqenpscl lcnilhhylh qanysiidda tmsdglpalv tlkkglvala
     2101 rqwmkfivvt pafkgvslhr paqplkpqia mdhehedglg ldnggglqsd tsadgaefef
     2161 daatvsehtm llegtanrpp pgssgpvtga eimrklskth thsdsalkik gihpyhslsy
     2221 tsgdtatdsp vhvgragmpv kdsprkesll syltgsfpsl hnllegtpqr ssaavksssl
     2281 trtgntvatd mlsehpllse pssvsfynwm snavgnrgsv lqespvtksg hnslptgvap
     2341 nlptipsasd fntvlssdqn tldgthsqhs tsqddvagve eanqgfpavq ladaqvvfkp
     2401 llshtgiqsq dtmpfcyrmy fgehlsfsgt ldclradivd sdtakerkgk rarrqghvnl
     2461 pplefkpalm lgtfsisavv meksvctpqn stsalsfhdl skryyntfhc nftiscqsis
     2521 qhvdmalvrl ihqfstmidd ikatqtdikl srytagsasp tptfktrkhr dfrssdfsrs
     2581 srgslnggnr vnnaknkrtn nennkkesrn knslgrserr tskvsrkgsk dvvdhmtihm
     2641 ddsdsitvse qsepsaecwq nmykllnfys lisdptgile kssetfgpag vrspteptck
     2701 vvfeneqdns sltktqrkrs lvtsepqhvt livfgigmvn rthleadigg ltmeselkri
     2761 hgsftlkekm kdvlhqkmte tcatahiggv nivllegitp niqledfpts ptstakqefl
     2821 tvvkcsiaks qalysaqrgl ktnnaavfkv gaisinipqh patlhsmmvr sshqlskqis
     2881 dlirqpstap qpvkediatp lpsektptsv nqtpvetnef pqlpeglekk pivlkfsaml
     2941 dgiaigaall pslkaeykmg rmrshgmtga qtrftfelpn hrlrftskvs atdmstipps
     3001 aslnlppvtm sgkyimeehd sysdqvwsid elpskqgyyl qgnylrcvae vgsfehnltt
     3061 dllnhlvfvq kvfmkevnev iqkvsggeqp iplwnehdgt adgdkpkill yslnlqfkgi
     3121 qvtattpsmr avrfetglie lelsnrlqtk aspgsssylk lfgkcqvdln lalgqivkhq
     3181 vyeeagsdfh qvayfktrig lrnalreeis gssdreavli tlnrpivyaq pvafdravlf
     3241 wlnykaaydn wneqrmalhk dihmatkevv dmlpgiqqts aqafgtlflq ltvndlgicl
     3301 pitntaqsnh tgdldtgsal vltiestlit acsseslvsk ghfknfcirf adgfetswdd
     3361 wkpeihgdlv mnacvvpdgt yevcsrttgq aaaesssagt wtlnvlwkmc gidvhmdpni
     3421 gkrlnalgnt lttltgeedi ddiadlnsvn iadlsdedev dtmsptihts sdgssisgdg
     3481 hkltfgqrlv nhllgltppn qrhsvpaeyl cdpemwgspq ssqshlkacr ahswgneatd
     3541 yrrqaasasq pgelrgrkim krivdireln eqakviddlk klgasegtin qeiqryqqle
     3601 svavndirrd vrkklrrssm raaslkdkwg lsykpsysrs ksisasgrpp lkrmerassr
     3661 vgeteelpei rvdaaspgpr vtfniqdtlk ntvwgstpqs scpgegyfqf peeteldlls
     3721 vtiegpshys snsegscsvf sspktpggfs pgipfqteeg rrddslssts edsekdekde
     3781 dhererfyiy rkpshtsrkk atgfaavhql fterwpttpv nrslsgtate rnidfeldir
     3841 veidsgkcvl hpttllqehd dislrrsydr ssrsldqdsp skkkkfqtny astthlmtgk
     3901 kvpsslqtkp sdlettvfyi pgvdvklhyn sktlktespn asrgsslprt lskesklygm
     3961 kdsatsppsp plpstvqskt ntllppqppp ipaakgkgsg gvktaklyaw valqslpeem
     4021 vispclldfl ekaletipit pvernytavs sqdedmghfe ipdpmeestt slvssstsay
     4081 ssfpvdvvvy vrvqpsqikf sclpvsrvec mlklpsldlv fssnrgelet lgttypaetl
     4141 spggnatqsg tktsasktgi pgssglgspl grsrhsssqs dltsssssss glsftacmsd
     4201 fslyvfhpyg agkqktavsg ltpgsgglgn vdeeptsvtg rkdslsinle fvkvslsrir
     4261 rsggasffes qsvsksaskm dttlinisav cdigsasfky dmrrlseila fprawyrrsi
     4321 arrlflgdqt inlptsgpgt pdsiegvsqh lspessrkay cktweqpsqs asfthmpqsp
     4381 nvfnehmtns tmspgtvgqs lkspasirsr svsdssvprr dslsktstpf nksnkaasqq
     4441 gtpwetlvvf ainlkqlnvq mnmsnvmgnt twttsglksq grlsvgsnrd reismsvglg
     4501 rsqldskggv vggtidvnal emvahisehp nqqpshkiqi tmgstearvd ymgssilmgi
     4561 fsnadlklqd ewkvnlyntl dssitdksei fvhgdlkwdi fqvmisrstt pdlikigmkl
     4621 qefftqqfdt skralstwgp vpylppktmt snlekssqeq lldaahhrhw pgvlkvvsgc
     4681 hislfqiplp edgmqfggsm slhgnhmtla cfhgpnfrsk swalfhleep niafwteaqk
     4741 iwedgssdhs tyivqtldfh lghntmvtkp cgalespmat itkitrrrhe npphgvasvk
     4801 ewfnyvtatr neelnllrnv danntenstt vknssllsgf rggssynhet etifalprmq
     4861 ldfksihvqe pqepslqdas lkpkvecsvv teftdhicvt mdaelimflh dlvsaylkek
     4921 ekaifppril strpgqkspi iihddnssdk dredsitytt vdwrdfmcnt whleptlrli
     4981 swtgrkidpv gvdyilqklg fhharttipk wlqrgvmdpl dkvlsvlikk lgtalqdeke
     5041 kkgkdkeeh
//
LOCUS       XP_024310137             525 aa            linear   PRI 20-MAR-2023
DEFINITION  neutral amino acid transporter 9 isoform X3 [Homo sapiens].
ACCESSION   XP_024310137
VERSION     XP_024310137.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024454369.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..525
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..525
                     /product="neutral amino acid transporter 9 isoform X3"
                     /calculated_mol_wt=59391
     Region          115..520
                     /region_name="SLC5-6-like_sbd"
                     /note="Solute carrier families 5 and 6-like; solute
                     binding domain; cl00456"
                     /db_xref="CDD:444915"
     CDS             1..525
                     /gene="SLC38A9"
                     /gene_synonym="SNAT9; URLC11"
                     /coded_by="XM_024454369.2:202..1779"
                     /db_xref="GeneID:153129"
                     /db_xref="HGNC:HGNC:26907"
                     /db_xref="MIM:616203"
ORIGIN      
        1 manmnsdsrh lgtsevdher dpgpmniqfe psdlrskrpf cieptnivnv nhviqrvsdh
       61 asamnkrihy ysrlttpadk aliapdhvvp apeecyvysp lgsayklqsy tegygkntsl
      121 vtifmiwntm mgtsilsipw gikqagfttg mcviilmgll tlyccyrvvk srtmmfsldt
      181 tsweypdvcr hyfgsfgqws sllfslvsli gamivywvlm snflfntgkf ifnfihhind
      241 tdtilstnns npvicpsags gghpdnssmi fyandtgaqq fekwwdksrt vpfylvglll
      301 pllnfkspsf fskfnileir fqfpqltgvl tlaffihnci itllknnkkq ennvrdlcia
      361 ymlvtltyly igvlvfasfp spplskdcie qnfldnfpss dtlsfiarif llfqmmtvyp
      421 llgylarvql lghifgdiyp sifhvlilnl iivgagvima cfypniggii rysgaacgla
      481 fvfiypsliy iislhqeerl twpklifhvf iiilgvanli vqffm
//
LOCUS       XP_047272793            2913 aa            linear   PRI 20-MAR-2023
DEFINITION  dmX-like protein 1 isoform X8 [Homo sapiens].
ACCESSION   XP_047272793
VERSION     XP_047272793.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416837.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2913
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..2913
                     /product="dmX-like protein 1 isoform X8"
                     /calculated_mol_wt=324896
     Region          969..1702
                     /region_name="Rav1p_C"
                     /note="RAVE protein 1 C terminal; pfam12234"
                     /db_xref="CDD:432413"
     Region          2633..2890
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          2677..2722
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          2727..2769
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          2776..2811
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          2817..2853
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..2913
                     /gene="DMXL1"
                     /coded_by="XM_047416837.1:92..8833"
                     /db_xref="GeneID:1657"
                     /db_xref="HGNC:HGNC:2937"
                     /db_xref="MIM:605671"
ORIGIN      
        1 mkfspdgeff atagkddcll kvwynvenwr tavtspdgss ekqsqgeidf sfvylahpra
       61 vngfswrkts kymprasvcn vlltcckdnv crlwvetflp ndcllyggdc shwtesinlt
      121 nnfkrnassk ervqnalevn lrhfrrgrrr slalvahtgy lphqqdphhv hrntplhana
      181 lchfhiaasi npatdipllp sitslslnen eektgpfvvh wlnnkelhft lsmevflqql
      241 rksfeqpsse asvedsnqad vksdeetddg vddlkinpek kelgcdkmvp nssftslssa
      301 aidhqievll sewsknadml fsihpmdgsl lvwhvdwlde yqpgmfrqvq vsfvsripva
      361 fptgdanslc ksimmyactk nvdlaiqqgk qkpsgltrst smlissghnk ssnslklsif
      421 tpnvmmiskh adgslnqwlv sfaeesafst vlsishksry cghrfhlndl achsvlplll
      481 ttshhnalrt pdvdnpeqpf dalnieecsl tqqnkstvdv afqdpsavys elilwrvdpv
      541 gplsfsggvs elarinslhv safsnvawlp tlipsyclga ycnspsacfv asdgqylrly
      601 eavidakkll selsnpeisk yvgevfnivs qqstarpgci ialdpitklh grktqllhvf
      661 eedfilnnle kkslgkdsil snagsspngf sekfylivie ctqdnrsllh mwnlhlksip
      721 vsldekvdtk lseavwqpee hyssspekil spfsqkyqac ranlqstsrl tlfsemvysq
      781 elhlpegvei isikpsaghl ssssiypacs apyllatscs dekvrfwrcr vtdgesatsk
      841 ngkidlayiw eewplliedg lqsnssitvp grpvevscah tnrlavaykq pasnsrssqd
      901 fvmhvsifec estggscwvl eqtihldels tvldsgisvd snlvaynkqd mylsskenit
      961 sntkhlvhld wmsredgshi ltvgigsklf mygplagkvq dqtgketlaf plwestkvvp
     1021 lskfvllrsv dlvssvdgsp pfpvslswvr dgilvvgmdc emhvycqwqp sskqepvitd
     1081 sysgstpsit slikqsnsss glhppkktlt rsmtslaqki cgkktafdps vdmedsglfe
     1141 aahvlsptlp qyhplqllel mdlgkvrrak ailshlvkci agevvalnea esnherrlrs
     1201 ltisasgstt rdpqafnkae ntdyteidsv pplplyalla adddscyssl ekssnestls
     1261 ksnqlskesy delfqtqllm tdthmletde entkprvidl sqysptyfgp ehaqvlsghl
     1321 lhsslpglsr meqmslmala dtiattstdi gesrdrsqgg etldecglkf llavrlhtfl
     1381 ttslpayraq llhqglstsh fawafhsvae eellnmlpam qkddptwsel ramgvgwwvr
     1441 ntrilrkcie kvakaafyrk ndpldaaify lamkkkaviw glyraekntr mtqffghnfe
     1501 derwrkaalk nafsllgkqr fehsaaffll agclrdaiev cleklndiql alviarlyes
     1561 efdtsaayks ilrkkvlgid spvselcsln inmhhdpflr smaywiledy sgaletlikq
     1621 pirenddqvl sasnptvfnf ynylrthpll lrrhfgssdt fsthmsltgk sglagtinls
     1681 errlffttas ahlkagcpml alevlskmpk vikktrpfyr assfldtskd cspssplkld
     1741 aredkssavd wsqslingfg sssegssekq snstlsfdws qpsvvfqdds lelkwdsdnd
     1801 eenedvpism kelkplqrkt dkklddissn ytesfstlde ndllnpsedi iavqlkfrac
     1861 lkiltvelrt lstgyeidgg klryqlyhwl ekevialqrt cdfcsdaeel qsafgrnede
     1921 fglnedaedl phqtkvkqlr enfqekrqwl lkyqsllrmf lsycilhgsh ggglasvrme
     1981 lilllqesqq etseplfssp lseqtsvpll factanaktv vanpllhlsn lthdilhaii
     2041 nfdspphpdi qsnkvyvmht laaslsaciy qclcgshnys sfqtnqftgm vyqtvllphr
     2101 pslktgslde altpntspaq wpgitclirl lnssgeeaqs gltvllceil tavylslfih
     2161 glathssnel frivahplne kmwsavfggg ahvpskeqth sktlpgrhfa mpsphqvvvf
     2221 smecvgfska lsaisshspp slavsslvee gekqnkrfrp skmscresap ltpssapvsq
     2281 eslavkekfi ppelsiwdyf iakpflpssq sraeydsees lgsddddndd dddvlasdfh
     2341 lqehsnsnsy swslmrlamv qlvlnnlktf ypfaghdlae lpvssplcha vlktlqcweq
     2401 vllrrleihg gppqnyiash taeeslsagp ailrhkalle ptntpfkskh hlalsvkrlw
     2461 qylvkqeeiq etfikniftk krclnesled nsetiknsmm eepninkiea dlgypggkar
     2521 iihkesdiit afavnkanrn ciaiasshdv qeldvsgila tqvytwvddd ievetkgsed
     2581 flviharddl tavqgttpyt hsnpgtpinm pwlgstqtgr gasvmikkai nnvrrmtshp
     2641 tlpyyltgaq dgsvrmfewg hsqqitcfrs ggnsrvtrmr fnyqgnkfgi vdadgylsly
     2701 qtnwkccpvt gsmpkpyltw qchnktandf vfvsssslia taglstdnrn vclwdtlvap
     2761 anslvhaftc hdsgatvlay apkhqllisg grkgftyvfd lcqrqqrqlf qshdspvkav
     2821 avdpteeyfv tgsaegniki wslstfgllh tfvseharqs ifrnigtgvm qietgpanhi
     2881 fscgadgtmk mrilpdqfsp lnevlkndvk fml
//
LOCUS       XP_047272888             385 aa            linear   PRI 20-MAR-2023
DEFINITION  eukaryotic peptide chain release factor subunit 1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047272888
VERSION     XP_047272888.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416932.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..385
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..385
                     /product="eukaryotic peptide chain release factor subunit
                     1 isoform X3"
                     /calculated_mol_wt=42940
     Region          11..367
                     /region_name="eRF1"
                     /note="Peptide chain release factor 1 (eRF1) [Translation,
                     ribosomal structure and biogenesis]; COG1503"
                     /db_xref="CDD:224420"
     CDS             1..385
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /coded_by="XM_047416932.1:26..1183"
                     /db_xref="GeneID:2107"
                     /db_xref="HGNC:HGNC:3477"
                     /db_xref="MIM:600285"
ORIGIN      
        1 maddpsaadr nveiwkikkl iksleaargn gtsmisliip pkdqisrvak mladefgtas
       61 niksrvnrls vlgaitsvqq rlklynkvpp nglvvycgti vteegkekkv nidfepfkpi
      121 ntslylcdnk fhtealtall sddskfgfiv idgsgalfgt lqgntrevlh kftvdlpkkh
      181 grggqsalrf arlrmekrhn yvrkvaetav qlfisgdkvn vaglvlagsa dfktelsqsd
      241 mfdqrlqskv lklvdisygg engfnqaiel stevlsnvkf iqekklieek ilyltpeqek
      301 dkshftdket gqeheliesm pllewfanny kkfgatleiv tdksqegsqf vkgfggiggi
      361 lryrvdfqgm eyqggddeff dlddy
//
LOCUS       XP_016865172             897 aa            linear   PRI 20-MAR-2023
DEFINITION  ras-specific guanine nucleotide-releasing factor 2 isoform X4 [Homo
            sapiens].
ACCESSION   XP_016865172
VERSION     XP_016865172.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009683.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..897
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..897
                     /product="ras-specific guanine nucleotide-releasing factor
                     2 isoform X4"
                     /calculated_mol_wt=101158
     Region          19..158
                     /region_name="PH_RasGRF1_2"
                     /note="Ras-specific guanine nucleotide-releasing factors 1
                     and 2 Pleckstrin homology (PH) domain; cd13261"
                     /db_xref="CDD:270081"
     Region          247..428
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; smart00325"
                     /db_xref="CDD:214619"
     Site            order(250,254,351,378..379,382..383,385..386,389..390,
                     393..394,397,423)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          480..588
                     /region_name="PH"
                     /note="Pleckstrin homology domain; smart00233"
                     /db_xref="CDD:214574"
     Region          638..>686
                     /region_name="RasGEF_N"
                     /note="RasGEF N-terminal motif; pfam00618"
                     /db_xref="CDD:425781"
     CDS             1..897
                     /gene="RASGRF2"
                     /gene_synonym="GRF2; RAS-GRF2"
                     /coded_by="XM_017009683.2:377..3070"
                     /db_xref="GeneID:5924"
                     /db_xref="HGNC:HGNC:9876"
                     /db_xref="MIM:606614"
ORIGIN      
        1 mqksvryneg halylaflar kegtkrgfls kktaeasrwh ekwfalyqnv lfyfegeqsc
       61 rpagmylleg cscertpapp ragagqggvr daldkqyyft vlfghegqkp lelrceeeqd
      121 gkewmeaihq asyadilier evlmqkyihl vqivetekia anqlrhqled qdteierlks
      181 eiialnktke rmrpyqsnqe dedpdikkik kvqsfmrgwl crrkwktivq dyicsphaes
      241 mrkrnqivft mveaeseyvh qlyilvngfl rplrmaassk kppishddvs siflnsetim
      301 flheifhqgl karianwptl iladlfdill pmlniyqefv rnhqyslqvl anckqnrdfd
      361 kllkqyeanp acegrmletf ltypmfqipr yiitlhella htphehverk slefakskle
      421 elsrvmhdev sdtenirknl aiermivegc dilldtsqtf irqgsliqvp svergklskv
      481 rlgslslkke gerqcflftk hflictrssg gklhllktgg vlslidctli eepdasddds
      541 kgsgqvfghl dfkivveppd aaaftvvlla psrqekaawm sdisqcvdni rcnglmtivf
      601 eenskvtvph miksdarlhk ddtdicfskt lnsckvpqir yasverller ltdlrflsid
      661 flntflhtyr ifttaavvlg klsdiykrpf tsipvrslel ffatsqnnrg ehlvdgkspr
      721 lcrkfssppp lavsrtsspv rarklsltsp lnskigaldl ttsssptttt qspaasppph
      781 tgqipldlsr glsspeqspg tveenvdnpr vdlcnklkrs iqkavlesap adragvessp
      841 aadttelspc rspstprhlr yrqpggqtad nahcsvspas afaiataaag hgsppep
//
LOCUS       XP_011533003             536 aa            linear   PRI 20-MAR-2023
DEFINITION  clathrin interactor 1 isoform X1 [Homo sapiens].
ACCESSION   XP_011533003
VERSION     XP_011533003.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534701.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..536
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..536
                     /product="clathrin interactor 1 isoform X1"
                     /calculated_mol_wt=59138
     Region          24..149
                     /region_name="ENTH_EpsinR"
                     /note="Epsin N-Terminal Homology (ENTH) domain of
                     Epsin-related protein; cd16989"
                     /db_xref="CDD:340786"
     Site            order(29,33..34,67,74,78)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:340786"
     Site            order(52..54,94..96,142..143,146,149)
                     /site_type="other"
                     /note="SNARE interaction site [polypeptide binding]"
                     /db_xref="CDD:340786"
     Region          <304..416
                     /region_name="Nucleoporin_FG2"
                     /note="Nucleoporin FG repeated region; pfam15967"
                     /db_xref="CDD:435043"
     CDS             1..536
                     /gene="CLINT1"
                     /gene_synonym="CLINT; ENTH; EPN4; EPNR"
                     /coded_by="XM_011534701.4:176..1786"
                     /db_xref="GeneID:9685"
                     /db_xref="HGNC:HGNC:23186"
                     /db_xref="MIM:607265"
ORIGIN      
        1 mlnmwkvrel vdkatnvvmn yseieskvre atnddpwgps gqlmgeiaka tfmyeqfpel
       61 mnmlwsrmlk dnkknwrrvy ksllllayli rngservvts arehiydlrs lenyhfvdeh
      121 gkdqginirq kvkelvefaq dddrlreerk kakknkdkyv gvssdsvggf ryserydpep
      181 kskwdeewdk nksafpfsdk lgelsdkigs tiddtiskfr rkdredsper csdsdeekka
      241 rrgrspkgef kdeeetvttk hihitqatet tttrhkrtan psktidlgaa ahytgdkasp
      301 dqnasthtpq ssvktsvpss kssgdlvdlf dgtsqstggs adlfggfadf gsaaasgsfp
      361 sqvtatsgng dfgdwsafnq apsgpvassg effgsasqpa velvsgsqsa lgpppaasns
      421 sdlfdlmgss qatmtssqsm nfsmmstntv glglpmsrsq plqnvstvlq kpnplynqnt
      481 dmvqksvskt lpstwsdpsv nisldnllpg mqpskpqqps lntmiqqqil lsvfvw
//
LOCUS       XP_047274232             625 aa            linear   PRI 20-MAR-2023
DEFINITION  eyes absent homolog 4 isoform X6 [Homo sapiens].
ACCESSION   XP_047274232
VERSION     XP_047274232.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418276.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..625
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..625
                     /product="eyes absent homolog 4 isoform X6"
                     /calculated_mol_wt=67628
     Region          42..>241
                     /region_name="NupH_GANP"
                     /note="Nucleoporin homology of Germinal-centre associated
                     nuclear protein; pfam16768"
                     /db_xref="CDD:435572"
     Region          345..591
                     /region_name="HAD_Eya"
                     /note="protein tyrosine phosphatase domain of the nuclear
                     transcription factor of Eyes absent (Eya) and related
                     phosphatase domains; cd02601"
                     /db_xref="CDD:319789"
     Site            order(352..356,446..447,555,579..580,584..585)
                     /site_type="active"
                     /db_xref="CDD:319789"
     CDS             1..625
                     /gene="EYA4"
                     /gene_synonym="CMD1J; DFNA10"
                     /coded_by="XM_047418276.1:433..2310"
                     /db_xref="GeneID:2070"
                     /db_xref="HGNC:HGNC:3522"
                     /db_xref="MIM:603550"
ORIGIN      
        1 medsqdlneq svkktctesd vsqsqnsrsm emqdlaspht lvgggdtpgs skleksnlss
       61 tsvttngtgv sllavktepl nssettattg dgaldtftgs vitssgyspr sahqyspqly
      121 pskpyphils tpaaqtmsay agqtqysgmq qpavytaysq tgqpyslpty dlgvmlpaik
      181 tesglsqtqs plqsgclsys pgfstpqpgq tpysyqmpgs sfapsstiya nnsvsnstnf
      241 sgsqqdypsy tafgqnqyaq yysastygay mtsnntadgt psststyqlq eslpgltnqp
      301 gefdtmqsps tpikdldert crssgsksrg rgrknnpspp pdsdlervfv wdldetiivf
      361 hslltgsyaq kygkdppmav tlglrmeemi fnladthlff ndleecdqvh iddvssddng
      421 qdlstysfat dgfhaaassa nlclptgvrg gvdwmrklaf ryrrvkelyn tyknnvggll
      481 gpakrdawlq lraeiegltd swltnalksl siistrsnci nvlvtttqli palakvllys
      541 lggafpieni ysatkigkes cferimqrfg rkvvyvvigd gveeeqaakk vtclkqcrcd
      601 tsnaslfvci svvwpngslt ndlnl
//
LOCUS       XP_016865929             832 aa            linear   PRI 20-MAR-2023
DEFINITION  lysine-specific histone demethylase 2 isoform X1 [Homo sapiens].
ACCESSION   XP_016865929
VERSION     XP_016865929.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017010440.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..832
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..832
                     /product="lysine-specific histone demethylase 2 isoform
                     X1"
                     /calculated_mol_wt=93149
     Region          138..200
                     /region_name="zf-CW"
                     /note="CW-type Zinc Finger; pfam07496"
                     /db_xref="CDD:429491"
     Region          <311..829
                     /region_name="PLN02328"
                     /note="lysine-specific histone demethylase 1 homolog"
                     /db_xref="CDD:215187"
     CDS             1..832
                     /gene="KDM1B"
                     /gene_synonym="AOF1; C6orf193; LSD2"
                     /coded_by="XM_017010440.3:208..2706"
                     /db_xref="GeneID:221656"
                     /db_xref="HGNC:HGNC:21577"
                     /db_xref="MIM:613081"
ORIGIN      
        1 matprgrtkk kasfdhspds lplrssgrqa kkkatettde dedggsekky rkcekagcta
       61 tcpvcfasas ercakngyts rwyhlscgeh fcnecfdhyy rshkdgydky ttwkkiwtsn
      121 gktepspkaf madqqlpywv qctkpecrkw rqltkeiqlt pqiaktyrcg mkpntaikrr
      181 gfavlprpet sdhcslpedl rvlevsnhww ysmlilppll kdsvaaplls ayypdcvgms
      241 psctstnraa atgnaspgkl ehskaalsvh vpgmnryfqp fyqpnecgka lcvrpdvmel
      301 delyefpeys rdptmylalr nlilalwytn ckealtpqkc iphiivrglv rircvqever
      361 ilyfmtrkgl intgvlsvga dqyllpkdyh nksviiigag paglaaarql hnfgikvtvl
      421 eakdriggrv wddksfkgvt vgrgaqivng cinnpvalmc eqlgismhkf gercdliqeg
      481 gritdptidk rmdfhfnall dvvsewrkdk tqlqdvplge kieeiykafi kesgiqfsel
      541 egqvlqfhls nleyacgsnl hqvsarswdh neffaqfagd htlltpgysv iieklaegld
      601 iqlkspqvqc idysgdevqv tttdgtgysa qkvlvtvpla llqkgaiqfn pplsekkmka
      661 inslgagiie kialqfpyrf wdskvqgadf fghvppsask rglfavfydm dpqkkhsvlm
      721 sviageavas vrtlddkqvl qqcmatlrel fkeqevpdpt kyfvtrwstd pwiqmaysfv
      781 ktggsgeayd iiaediqgtv ffageatnrh fpqtvtgayl sgvreaskia af
//
LOCUS       XP_016866122             686 aa            linear   PRI 20-MAR-2023
DEFINITION  origin recognition complex subunit 3 isoform X2 [Homo sapiens].
ACCESSION   XP_016866122
VERSION     XP_016866122.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017010633.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..686
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..686
                     /product="origin recognition complex subunit 3 isoform X2"
                     /calculated_mol_wt=79398
     Region          18..344
                     /region_name="ORC3_N"
                     /note="Origin recognition complex (ORC) subunit 3
                     N-terminus; pfam07034"
                     /db_xref="CDD:429256"
     Site            order(143,261,264..265,269)
                     /site_type="other"
                     /note="Orc4 interface [polypeptide binding]"
                     /db_xref="CDD:412052"
     Site            order(149,153,156)
                     /site_type="other"
                     /note="Orc1 interface [polypeptide binding]"
                     /db_xref="CDD:412052"
     Region          355..585
                     /region_name="ORC3_ins"
                     /note="Origin recognition complex subunit 3 insertion
                     domain; pfam19675"
                     /db_xref="CDD:437507"
     Region          596..>671
                     /region_name="ORC_WH_C"
                     /note="Origin recognition complex winged helix C-terminal;
                     pfam18137"
                     /db_xref="CDD:436299"
     CDS             1..686
                     /gene="ORC3"
                     /gene_synonym="LAT; LATHEO; ORC3L"
                     /coded_by="XM_017010633.3:35..2095"
                     /db_xref="GeneID:23595"
                     /db_xref="HGNC:HGNC:8489"
                     /db_xref="MIM:604972"
ORIGIN      
        1 matssmskgc fvfkpnskkr kislpiedyf nkgknepeds klrfetyqli wqqmksener
       61 lqeelnknlf dnlieflqks hsgfqknsrd lggqiklrei ptaalvlgvn vtdhdltfgs
      121 ltealqnnvt pyvvslqakd cpdmkhflqk lisqlmdccv dikskeeesv hvtqrkthys
      181 mdslsswymt vtqktdpkml skkrttssqw qsppvvvilk dmesfatkvl qdfiiissqh
      241 lhefplilif giatspiiih rllphavssl lcielfqsls ckehlttvld klllttqfpf
      301 kinekvlqvl tniflyhdfs vqnfikglql sllehfysqp lsvlccnlpe akrrinflsn
      361 nqcenirrlp sfrryvekqa sekqvalltn erylkeetql llenlhvyhm nyflvlrclh
      421 kftsslpkyp lgrqirelyc tclekniwds eeyasvlqll rmlakdelmt ilekcfkvfk
      481 sycenhlgst akrieeflaq fqsldetkee edasgsqpkg lqktdlyhlq ksllemkelr
      541 rskkqtkfev lrenvvnfid clvreyllpp etqplhevvy fsaahalreh lnaaprialh
      601 talnnpyyyl knealkseeg cipniapdic iayklhlecs rlinlvdwse afatvvtaae
      661 kmdansatse emneiiqeyt apvyrk
//
LOCUS       XP_047276874             202 aa            linear   PRI 20-MAR-2023
DEFINITION  armadillo repeat-containing protein 10 isoform X10 [Homo sapiens].
ACCESSION   XP_047276874
VERSION     XP_047276874.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420918.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..202
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..202
                     /product="armadillo repeat-containing protein 10 isoform
                     X10"
                     /calculated_mol_wt=21782
     Region          100..128
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          102..>185
                     /region_name="Arm_2"
                     /note="Armadillo-like; pfam04826"
                     /db_xref="CDD:428145"
     Region          140..176
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     CDS             1..202
                     /gene="ARMC10"
                     /gene_synonym="PNAS-112; PNAS112; PSEC0198; SVH"
                     /coded_by="XM_047420918.1:134..742"
                     /db_xref="GeneID:83787"
                     /db_xref="HGNC:HGNC:21706"
                     /db_xref="MIM:611864"
ORIGIN      
        1 mggprgagwv aaglllgaga cyciyrltrg rrrgdrelgi rssksagale egtsegqlcg
       61 rsarpqtggt wesqwsktsq pdektetpkn kdltdgsydd vlnaeqlqkl lyllestedp
      121 viieralitl gnnaafsvnq aiirelggip ivankinhsn qsikekalna lnnlsvnven
      181 qikikpritf rgmenkteeg gt
//
LOCUS       XP_047276975             492 aa            linear   PRI 20-MAR-2023
DEFINITION  plexin-A4 isoform X4 [Homo sapiens].
ACCESSION   XP_047276975
VERSION     XP_047276975.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421019.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..492
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..492
                     /product="plexin-A4 isoform X4"
                     /calculated_mol_wt=54903
     Region          39..458
                     /region_name="Sema"
                     /note="The Sema domain, a protein interacting module, of
                     semaphorins and plexins; cl15693"
                     /db_xref="CDD:449580"
     CDS             1..492
                     /gene="PLXNA4"
                     /gene_synonym="FAYV2820; PLEXA4; PLXNA4A; PLXNA4B;
                     PRO34003"
                     /coded_by="XM_047421019.1:226..1704"
                     /db_xref="GeneID:91584"
                     /db_xref="HGNC:HGNC:9102"
                     /db_xref="MIM:604280"
ORIGIN      
        1 mkampwnwtc llshllmvgm gsstlltrqp aplsqkqrsf vtfrgepaeg fnhlvvdert
       61 ghiylgavnr iyklssdlkv lvthetgpde dnpkcyppri vqtcnepltt tnnvnkmlli
      121 dykenrliac gslyqgickl lrledlfklg epyhkkehyl sgvnesgsvf gvivsysnld
      181 dklfiatavd gkpeyfptis srkltknsea dgmfayvfhd efvasmikip sdtftiipdf
      241 diyyvygfss gnfvyfltlq pemvsppgst tkeqvytskl vrlckedtaf nsyvevpigc
      301 ersgveyrll qaaylskaga vlgrtlgvhp dddllftvfs kgqkrkmksl desalcifil
      361 kqindriker lqscyrgegt ldlawlkvkd ipcssallti ddnfcgldmn aplgvsdmvr
      421 gipvftedrd rmtsviayvy knhslafvgt ksgklkkmpg tslcptlelq tgprshratv
      481 tlellfsscs sn
//
LOCUS       XP_011515328             752 aa            linear   PRI 20-MAR-2023
DEFINITION  potassium voltage-gated channel subfamily KQT member 3 isoform X2
            [Homo sapiens].
ACCESSION   XP_011515328
VERSION     XP_011515328.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011517026.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..752
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..752
                     /product="potassium voltage-gated channel subfamily KQT
                     member 3 isoform X2"
                     /calculated_mol_wt=84633
     Region          10..243
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          326..530
                     /region_name="KCNQ_channel"
                     /note="KCNQ voltage-gated potassium channel; pfam03520"
                     /db_xref="CDD:427346"
     Region          650..746
                     /region_name="KCNQC3-Ank-G_bd"
                     /note="Ankyrin-G binding motif of KCNQ2-3; pfam11956"
                     /db_xref="CDD:432219"
     CDS             1..752
                     /gene="KCNQ3"
                     /gene_synonym="BFNC2; EBN2; KV7.3"
                     /coded_by="XM_011517026.3:18014..20272"
                     /db_xref="GeneID:3786"
                     /db_xref="HGNC:HGNC:6297"
                     /db_xref="MIM:602232"
ORIGIN      
        1 mtcstscsrf livlgclila vlttfkeyet vsgdwlllle tfaififgae falriwaagc
       61 ccrykgwrgr lkfarkplcm ldifvliasv pvvavgnqgn vlatslrslr flqilrmlrm
      121 drrggtwkll gsaicahske litawyigfl tlilssflvy lvekdvpevd aqgeemkeef
      181 etyadalwwg litlatigyg dktpktwegr liaatfslig vsffalpagi lgsglalkvq
      241 eqhrqkhfek rrkpaaeliq aawryyatnp nridlvatwr fyesvvsfpf frkeqleaas
      301 sqklglldrv rlsnprgsnt kgklftplnv daieespske pkpvglnnke rfrtafrmka
      361 yafwqsseda gtgdpmaedr gygndfpied miptlkaair avrilqfrly kkkfketlrp
      421 ydvkdvieqy saghldmlsr ikylqtridm iftpgppstp khkksqkgsa ftfpsqqspr
      481 nepyvarpst seiedqsmmg kfvkverqvq dmgkkldflv dmhmqhmerl qvqvteyypt
      541 kgtsspaeae kkednrysdl ktiicnyset gppeppysfh qvtidkvspy gffahdpvnl
      601 prggpssgkv qatppssatt yverptvlpi ltlldsrvsc hsqadlqgpy sdrisprqrr
      661 sitrdsdtpl slmsvnheel erspsgfsis qdrddyvfgp nggsswmrek rylaegetdt
      721 dtdpftpsgs mplsstgdgi sdsvwtpsnk pi
//
LOCUS       XP_024302947            2547 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase UBR5 isoform X3 [Homo sapiens].
ACCESSION   XP_024302947
VERSION     XP_024302947.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024447179.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2547
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..2547
                     /product="E3 ubiquitin-protein ligase UBR5 isoform X3"
                     /calculated_mol_wt=282272
     Region          917..992
                     /region_name="UBR-box_UBR5"
                     /note="UBR-box found in HECT-type E3 ubiquitin-protein
                     ligase UBR5 and similar proteins; cd19675"
                     /db_xref="CDD:439073"
     Site            order(942,945,954,957,961..962,965,978,980,986)
                     /site_type="other"
                     /note="putative Zn binding site [ion binding]"
                     /db_xref="CDD:439073"
     Region          2137..2200
                     /region_name="PolyA"
                     /note="C-terminal domain of Poly(A)-binding protein.
                     Present also in Drosophila hyperplastics discs protein;
                     smart00517"
                     /db_xref="CDD:197769"
     Region          2249..2544
                     /region_name="HECTc"
                     /note="Domain Homologous to E6-AP Carboxyl Terminus with;
                     smart00119"
                     /db_xref="CDD:214523"
     Site            order(2323,2326..2327,2329..2330,2339,2346,2348,
                     2352..2353,2360,2365,2382,2386)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..2547
                     /gene="UBR5"
                     /gene_synonym="DD5; EDD; EDD1; HYD"
                     /coded_by="XM_024447179.2:683..8326"
                     /db_xref="GeneID:51366"
                     /db_xref="HGNC:HGNC:16806"
                     /db_xref="MIM:608413"
ORIGIN      
        1 mslldadihs ahpsviidad amfsedisyf gypsfrrssl srlgssrerd sellreresv
       61 lrlrerrwld gasfdnergs tskegepnld kkntpvqspv slgedlqwwp dkdgtkfici
      121 galysellav sskgelyqwk wsesepyrna qnpslhhpra tflgltneki vllsansira
      181 tvatennkva twvdetlssv asklehtaqt yselqgeriv slhccalytc aqlenslyww
      241 gvvpfsqrkk mlekaraknk kpkssagiss mpnitvgtqv clrnnplyha gavafsisag
      301 ipkvgvlmes vwnmndscrf qlrspeslkn mekaskttea kpeskqepvk temgpppspa
      361 stcsdassia ssasmpykrr rstpapkeee kvneeqwslr evvfvedvkn vpvgkvlkvd
      421 gayvavkfpg tssntncqns sgpdadpssl lqdcrllrid elqvvktggt pkvpdcfqrt
      481 pkklcipekt eilavnvdsk gvhavlktgn wvrycifdla tgkaeqennf ptssiaflgq
      541 nernvaifta gqespiilrd gngtiypmak dcmggirdpd wldlppissl gmgvhslinl
      601 panstikkka aviimavekq tlmqhilrcd yeacrqylmn leqavvleqn lqmlqtfish
      661 rcdgnrnilh acvsvcfpts nketkeeeea erserntfae rlsaveaian aisvvssngp
      721 gnragssssr slrlremmrr slraaglgrh eagasssdhq dpvsppiapp swvpdppamd
      781 pdgdidfila pavgslttaa tgtgqgpsts tipgpsteps vveskdrkan ahfilkllcd
      841 svvlqpylre llsakdargm tpfmsavsgr aypaaitile taqkiakaei sssekeedvf
      901 mgmvcpsgtn pddsplyvlc cndtcsftwt gaehinqdif ecrtcglles lccctecarv
      961 chkghdcklk rtsptaycdc wekckcktli agqksarldl lyrlltatnl vtlpnsrgeh
     1021 lllflvqtva rqtvehcqyr ppriredrnr ktaspedsdm pdhdlepprf aqlalervlq
     1081 dwnalksmim fgsqenkdpl sassrighll peeqvylnqq sgtirldcft hclivkctad
     1141 illldtllgt lvkelqnkyt pgrreeaiav tmrflrsvar vfvilsvema sskkknnfip
     1201 qpigkckrvf qallpyavee lcnvaesliv pvrmgiarpt apftlastsi damqgseelf
     1261 sveplpprps sdqsssssqs qssyiirnpq qrrisqsqpv rgrdeeqddi vsadveevev
     1321 vegvageedh hdeqeehgee naeaegqhde hdedgsdmel dllaaaetes dsesnhsnqd
     1381 nasgrrsvvt aatagseaga ssvpaffsed dsqsndssds dssssqsddi eqetfmldep
     1441 lerttnssha ngaaqaprsm qwavrntqhq raastapsst stpaassagl iyidpsnlrr
     1501 sgtistsaaa aaaaleasna ssyltsassl araysivirq isdlmglipk ynhlvysqip
     1561 aavkltyqda vnlqnyveek liptwnwmvs imdsteaqlr ygsalasagd pghpnhplha
     1621 sqnsarrerm tareeaslrt legrrratll sarqgmmsar gdflnyalsl mrshndehsd
     1681 vlpvldvcsl khvayvfqal iywikamnqq ttldtpqler krtrellelg idnedsehen
     1741 dddtnqsatl ndkdddslpa etgqnhpffr rsdsmtflgc ippnpfevpl aeaipladqp
     1801 hllqpnarke dlfgrpsqgl ysssassgkc lmevtvdrnc levlptkmsy aanlknvmnm
     1861 qnrqkkegee qpvlpeetes skpgpsahdl aaqlksslla eigltesegp pltsfrpqcs
     1921 fmgmvishdm llgrwrlsle lfgrvfmedv gaepgsilte lggfevkesk frremeklrn
     1981 qqsrdlslev kvdrdrdlli qqtmrqlnnh fgrrcattpm avhrvkvtfk depgegsgva
     2041 rsfytaiaqa flsneklpnl eciqnankgt htslmqrlrn rgerdrerer eremrrssgl
     2101 ragsrrdrdr dfrrqlsidt rpfrpasegn psddpeplpa hrqalgerly prvqamqpaf
     2161 askitgmlle lspaqlllll asedslrarv deameliiah grengadsil dlglvdssek
     2221 vqqenrkrhg ssrsvvdmdl ddtddgddna plfyqpgkrg fytprpgknt earlncfrni
     2281 grilglcllq nelcpitlnr hvikvllgrk vnwhdfaffd pvmyeslrql ilasqssdad
     2341 avfsamdlaf aidlckeegg gqvelipngv nipvtpqnvy eyvrkyaehr mlvvaeqplh
     2401 amrkglldvl pknsledlta edfrllvngc gevnvqmlis ftsfndesge naekllqfkr
     2461 wfwsivekms mterqdlvyf wtsspslpas eegfqpmpsi tirppddqhl ptantcisrl
     2521 yvplysskqi lkqklllaik tknfgfv
//
LOCUS       XP_047278330             407 aa            linear   PRI 20-MAR-2023
DEFINITION  protein CBFA2T1 isoform X4 [Homo sapiens].
ACCESSION   XP_047278330
VERSION     XP_047278330.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422374.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..407
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..407
                     /product="protein CBFA2T1 isoform X4"
                     /calculated_mol_wt=45533
     Region          102..191
                     /region_name="TAFH"
                     /note="NHR1 homology to TAF; pfam07531"
                     /db_xref="CDD:429517"
     Region          317..383
                     /region_name="NHR2"
                     /note="NHR2 domain like; pfam08788"
                     /db_xref="CDD:430219"
     CDS             1..407
                     /gene="RUNX1T1"
                     /gene_synonym="AML1-MTG8; AML1T1; CBFA2T1; CDR; ETO; MTG8;
                     ZMYND2"
                     /coded_by="XM_047422374.1:502..1725"
                     /db_xref="GeneID:862"
                     /db_xref="HGNC:HGNC:1535"
                     /db_xref="MIM:133435"
ORIGIN      
        1 mvglsgpvqy rtekhstmpd spvdvktqsr ltpptmpppp ttqgaprtss ftpttltngt
       61 shsptalnga psppngfsng psssssssla nqqlppacga rqlsklkrfl ttlqqfgndi
      121 speigervrt lvlglvnstl tieefhsklq eatnfplrpf vipflkanlp llqrellhca
      181 rlakqnpaqy laqheqllld asttspvdss ellldvneng krrtpdrtke ngfdreplhs
      241 ehpskrpcti spgqryspnn glsyqpnglp hptppppqhy rlddmaiahh yrdsyrhpsh
      301 rdlrdrnrpm glhgtrqeem idhrltdrew aeewkhldhl lncimdmvek trrsltvlrr
      361 cqeadreeln ywirrysdae dlkkgggsss shsrqqspvn pdpvalg
//
LOCUS       XP_011516608            1319 aa            linear   PRI 20-MAR-2023
DEFINITION  protein shortage in chiasmata 1 ortholog isoform X4 [Homo sapiens].
ACCESSION   XP_011516608
VERSION     XP_011516608.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011518306.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1319
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1319
                     /product="protein shortage in chiasmata 1 ortholog isoform
                     X4"
                     /calculated_mol_wt=150647
     Region          10..1319
                     /region_name="DUF5587"
                     /note="Family of unknown function (DUF5587); pfam17825"
                     /db_xref="CDD:436071"
     CDS             1..1319
                     /gene="SHOC1"
                     /gene_synonym="C9orf84; MZIP2; SPGF75; ZIP2; ZIP2H"
                     /coded_by="XM_011518306.2:97..4056"
                     /db_xref="GeneID:158401"
                     /db_xref="HGNC:HGNC:26535"
                     /db_xref="MIM:618038"
ORIGIN      
        1 mfstskpepr ecfslqetle afvkedfcmd kvnfcqekle dticlnepss flieyeflip
       61 pslkpeidip slselkelln pvpeiinyvd ekeklferdl tnkhgiedig dikfssteil
      121 tiqsqsepee cskpgelemp ltplfltcqh ssvnslrtel qtfplspvck inlltaeesa
      181 neyymmwqle rcrsplnpfl ltvpriqeph sqysvtdlkk ifsvkeeslv inlekaewwk
      241 qaglnlkmme tlehlntylc hdnlssndtk ieiflptkvl qlesclehks hsspialide
      301 kstnahlslp qkspslakev pdlcfsddyf sdkgaakeek pkndqepvnr iiqkkenndh
      361 feldctgpsi kspsssiikk asfehgkkqe ndldllsdfi mlrnkyktct sktevtnsde
      421 khdkeacslt lqeespivhi nktleeinqe rgtdsvieiq asdsqcqafc lleaaaspil
      481 knlvslctlp tanwkfatvi fdqtrfllke qekvvsdavr qgtideremt fkhaallhll
      541 vtirdvlltc sldtalgyls kakdiynsil gpylgdiwrq leivqfirgk kpetnykiqe
      601 lqcqilswmq sqqqikvlii irmdsdgekh flikilnkie gltltvlhsn erkdfleseg
      661 vlrgtsscvv vhnqyigadf pwsnfsfvve ynyvedscwt khckelnipy mafkvilpdt
      721 vlerstlldr fggflleiqi pyvffasegl lntpdilqll esnynislve rgcseslklf
      781 gssecyvvvt idehtaiilq dleelnyeka sdniimrlma lslqyrycwi ilytketlns
      841 eylltektlh hlaliyaalv sfglnseeld vkliiapgve ataliirqia dhslmtskrd
      901 phewldkswl kvspseeemy lldfpcinpl vaqlmlnkgp slhwillatl cqlqellpev
      961 pekvlkhfcs itslfkigss sitkspqiss pqenrnqist lssqssasdl dsviqehney
     1021 yqylglgetv qedkttilnd nssimelkei ssflppvtsy nqtsywkdss cksnigqntp
     1081 fliniesrrp aynsflnhsd sesdvfslgl tqmncetiks ptdtqkrvsv vprfinsqkr
     1141 rtheakgfin kdvsdpifsl egtqsplhwn fkkniweqen hpfnlqygaq qtacnklysq
     1201 kgnlftdqqk clsdeseglt cesskdetfw relpsvpsld lfrasdsnan qkefnslyfy
     1261 qragkslgqk rhhessfnsg dkesltgfmc sqlpqfkkrr layekvpgrv dgqtrlrff
//
LOCUS       XP_047298295            1785 aa            linear   PRI 20-MAR-2023
DEFINITION  BCL-6 corepressor-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047298295
VERSION     XP_047298295.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442339.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1785
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1785
                     /product="BCL-6 corepressor-like protein 1 isoform X1"
                     /calculated_mol_wt=190431
     Region          <198..636
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1496..1527
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(1497,1501..1502,1505..1507,1509..1510,1514,1517,
                     1527,1529,1531,1535..1536,1539..1541,1543..1544,1548,1551,
                     1560,1562,1564,1568..1569,1572..1574,1576..1577,1581,1584)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          1500..1591
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          1529..1560
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1562..1591
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1666..1779
                     /region_name="PUFD_like_1"
                     /note="PCGF Ub-like fold discriminator of BCOR-like 1;
                     cd14260"
                     /db_xref="CDD:271223"
     Site            order(1668,1670..1680,1682,1684,1693..1695,1697,
                     1738..1739,1741,1744,1766,1777,1779)
                     /site_type="other"
                     /note="RAWUL domain interface [polypeptide binding]"
                     /db_xref="CDD:271223"
     CDS             1..1785
                     /gene="BCORL1"
                     /gene_synonym="BCoR-L1; CXorf10; SHUVER"
                     /coded_by="XM_047442339.1:234..5591"
                     /db_xref="GeneID:63035"
                     /db_xref="HGNC:HGNC:25657"
                     /db_xref="MIM:300688"
ORIGIN      
        1 mistaplysg vhnwtssdri rmcgineerr aplsdeestt gdcqhfgsqe fcvsssfskv
       61 eltavgsgsn argadpdgsa teklghksed kpddpqpkmd yagnvaeaeg llvplsspgd
      121 glklpasdsa easnsradcs wtplntqmsk qvdcspagvk aldsrqgvge kntfilatlg
      181 tgvpvegtlp lvttnfsplp apicppapgs asvphsvpda fqvplsvpap vphsglvpvq
      241 vatsvpapsp plapvpalap appsvptlis dsnplsvsas vlvpvpasap psgpvplsap
      301 apaplsvpvs applaliqap vppsaptlvl apvptpvlap mpastppaap appsvpmptp
      361 tpssgppstp tlipafaptp vpaptpapif tpaptpmpaa tpaaiptsap ipasfslsrv
      421 cfpaaqapam qkvplsfqpg tvltpsqplv yipppscgqp lsvatlpttl gvsstltlpv
      481 lpsylqdrcl pgvlaspelr sypyafsvar pltsdsklvs levnrlpcts psgstttqpa
      541 pdgvpgplad tslvtasakv lptpqpllpa psgssapphp akmpsgteqq tegtsvtfsp
      601 lksppqlere masppecsem pldlssksnr qklplpnqrk tppmpvltpv htsskallst
      661 vlsrsqrttq aaggnvtscl gstsspfvif peivrngdps twvknstali stipgtyvgv
      721 anpvpaslll nkdpnlglnr dprhlpkqep isiidqgepk gtgatcgkkg sqagaegqps
      781 tvkrytpari apglpgcqtk elslwkptgp aniyprcsvn gkptstqvlp vgwspyhqas
      841 llsigissag qltpsqgapi rptsvvsefs gvpslsssea vhglpegqpr pggsfvpeqd
      901 pvtknktcri aakpyeeqvn pvlltlspqt gtlalsvqps ggdirmnqgp eeseshlcsd
      961 stpkmegpqg acglklagdt kpknqvlaty mshelvlatp qnlpkmpelp llphdshpke
     1021 lildvvpssr rgssterpql gsqvdlgrvk mekvdgdvvf nlatcfradg lpvapqrgqa
     1081 evrakagqar vkqesvgvfa cknkwqpddv teslppkkmk cgkekdseeq qlqpqakavv
     1141 rsshrpkcrk lpsdpqestk ksprgasdsg kehngvrgkh khrkptkpes qspgkradsh
     1201 eegslekkak ssfrdfipvv lstrtrsqsg sicssfagma dsdmgsqevf pteeeeevtp
     1261 tpakrrkvrk tqrdtqyrsh haqdksllsq grrhlwrare mpwrteaarq mwdtneeeee
     1321 eeeegllkrk krrrqksrky qtgeylteqe deqrrkgrad lkarkqktss sqslehrlrn
     1381 rnlllpnkvq gisdspngfl pnnleepacl ensekpsgkr kcktkhmatv seeakgkgrw
     1441 sqqktrspks ptpvkptepc tpsksrsass eeasesptar qippearrli vnknagetll
     1501 qraarlgykd vvlyclqkds edvnhrdnag ytalheacsr gwtdilnill ehganvncsa
     1561 qdgtrpvhda vvndnletiw lllsygadpt latysgqtam klassdtmkr flsdhlsdlq
     1621 graegdpgvs wdfysssvle ekdgfacdll hnppgssdqe gddpmeeddf mfelsdkpll
     1681 pcynlqvsvs rgpcnwflfs dvlkrlklss rifqarfphf eittmpkaef yrqvassqll
     1741 tpaerpggld drsppgsset velvryepdl lrllgsevef qscns
//
LOCUS       XP_047298327             390 aa            linear   PRI 20-MAR-2023
DEFINITION  protein-serine O-palmitoleoyltransferase porcupine isoform X15
            [Homo sapiens].
ACCESSION   XP_047298327
VERSION     XP_047298327.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442371.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..390
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..390
                     /product="protein-serine O-palmitoleoyltransferase
                     porcupine isoform X15"
                     /calculated_mol_wt=44046
     Region          25..>272
                     /region_name="MBOAT"
                     /note="membrane-bound O-acyltransferase family; cl00738"
                     /db_xref="CDD:445070"
     CDS             1..390
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /coded_by="XM_047442371.1:292..1464"
                     /db_xref="GeneID:64840"
                     /db_xref="HGNC:HGNC:17652"
                     /db_xref="MIM:300651"
ORIGIN      
        1 mvwvvllsll cylvlflcrh sshrgvflsv tiliyllmge mhmvdtvtwh kmrgaqmiva
       61 mkavslgfdl drgevgtvps pvefmgylyf vgtivfgpwi sfhsylqavq grplscrwlq
      121 kvarslalal lclvlstcvg pylfpyfipl ngdrllrnkk rkargtmvrw lrayesavsf
      181 hfsnyfvgfl seatatlaga gfteekdhle wdltvskpln velprsmvev vtswnlpmsy
      241 wlnnyvfkna lrlgtfsavl vtyaasallh gfsfhlaavl lslafityve hvlrkrlari
      301 lsacvlskrc ppdcshqhrl glgvralnll fgalaifhla ylgslfdvdv ddtteeqgyg
      361 maytvhkwse lswashwvtf gcwifyrlig
//
LOCUS       XP_054185079             346 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear distribution protein nudE homolog 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054185079
VERSION     XP_054185079.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329104.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187607.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..346
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.12-12.3"
     Protein         1..346
                     /product="nuclear distribution protein nudE homolog 1
                     isoform X2"
                     /calculated_mol_wt=38677
     CDS             1..346
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /coded_by="XM_054329104.1:94..1134"
                     /db_xref="GeneID:54820"
                     /db_xref="HGNC:HGNC:17619"
                     /db_xref="MIM:609449"
ORIGIN      
        1 medsgktfss eeeeanywkd lamtykqrae ntqeelrefq egsreyeael etqlqqietr
       61 nrdllsennr lrmeletike kfevqhsegy rqisaleddl aqtkaikdql qkyireleqa
      121 nddlerakra timsledfeq rlnqaierna fleseldeke nllesvqrlk deardlrqel
      181 avqqkqekpr tpmpssveae rtdtavqatg svpstpiahr gpssslntpg sfrrglddst
      241 ggtpltpaar isalnivgdl lrkvgalesk lascrnlvyd qspnrtggpa sgrssknrdg
      301 gerrpsstsv plgdkglgkr lefgkppshm sssplpsaqg vvkmll
//
LOCUS       XP_054186760             285 aa            linear   PRI 20-MAR-2023
DEFINITION  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 isoform X1
            [Homo sapiens].
ACCESSION   XP_054186760
VERSION     XP_054186760.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330785.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167247.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..285
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..285
                     /product="N(G),N(G)-dimethylarginine
                     dimethylaminohydrolase 2 isoform X1"
                     /calculated_mol_wt=29513
     CDS             1..285
                     /gene="DDAH2"
                     /gene_synonym="DDAH; DDAHII; G6a; HEL-S-277; NG30"
                     /coded_by="XM_054330785.1:358..1215"
                     /db_xref="GeneID:23564"
                     /db_xref="HGNC:HGNC:2716"
                     /db_xref="MIM:604744"
ORIGIN      
        1 mgtpgeglgr cshalirgvp eslasgegag aglpaldlak aqrehgvlgg klrqrlglql
       61 lelppeeslp lgpllgdtav iqgdtalitr pwsparrpev dgvrkalqdl glriveigde
      121 natldgtdvl ftgreffvgl skwtnhrgae ivadtfrdfa vstvpvsgps hlrglcgmgg
      181 prtvvagssd aaqkavrama vltdhpyasl tlpddaaadc lflrpglpgv ppfllhrggg
      241 dlpnsqealq klsdvtlvpv scselekaga glsslclvls trphs
//
LOCUS       XP_054186928             303 aa            linear   PRI 20-MAR-2023
DEFINITION  V-set and transmembrane domain-containing protein 1 isoform X4
            [Homo sapiens].
ACCESSION   XP_054186928
VERSION     XP_054186928.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330953.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571058.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..303
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..303
                     /product="V-set and transmembrane domain-containing
                     protein 1 isoform X4"
                     /calculated_mol_wt=33230
     CDS             1..303
                     /gene="VSTM1"
                     /gene_synonym="SIRL-1; SIRL1; UNQ3033"
                     /coded_by="XM_054330953.1:121..1032"
                     /db_xref="GeneID:284415"
                     /db_xref="HGNC:HGNC:29455"
                     /db_xref="MIM:616804"
ORIGIN      
        1 mtaeflsllc lglclgyede kknekppkps lhawpssvve aesnvtlkcq ahsqnvtfvl
       61 rkvndsgykq eqssaeneae fpftdlkpkd agryfcaykt tashewsess ehlqlvvtgs
      121 lpepllsvnv dpgmtpglrt lrcltpyngt eciviallkm gipeplqvrq vrknqtdfml
      181 wnvtsndsgn yscvyylsns shlasfpsnk leiwvtdkhd eleapsmktg ssseestkrt
      241 shsklpeqea aeadlsnmer vslstadpqg vtyaelstsa lseaasdttq eppgsheyaa
      301 lkv
//
LOCUS       XP_054187184            1846 aa            linear   PRI 20-MAR-2023
DEFINITION  mediator of DNA damage checkpoint protein 1 isoform X8 [Homo
            sapiens].
ACCESSION   XP_054187184
VERSION     XP_054187184.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331209.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1846
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1846
                     /product="mediator of DNA damage checkpoint protein 1
                     isoform X8"
                     /calculated_mol_wt=199878
     CDS             1..1846
                     /gene="MDC1"
                     /gene_synonym="NFBD1"
                     /coded_by="XM_054331209.1:180..5720"
                     /db_xref="GeneID:9656"
                     /db_xref="HGNC:HGNC:21163"
                     /db_xref="MIM:607593"
ORIGIN      
        1 mghptfptcq qfpsrvayfq imedtqaidw dveeeeeteq sseslrcnve pvgrlhifsg
       61 ahgpekdfpl hlgknvvgrm pdcsvalpfp siskqhaeie ilawdkapil rdcgslngtq
      121 ilrppkvlsp gvshrlrdqe lilfadllcq yhrldvslpf vsrgpltvee tprvqgetqp
      181 qrlllaedse eevdflserr mvkksrttss svivpesdee ghspvlgglg ppfafnlnsd
      241 tdveegqqpa teeassaarr gatveakqse aevvteiqle kdqplvkekd ndtkvkrgag
      301 ngvvpagvil ersqppgeds dtdvdddsrp pgrpaevhle raqpfgfids dtdaeeerip
      361 atpvvipmkk rkifhgvgtr gpgapglahl qesqagsdtd veegkapqav pleksqasmv
      421 insdtddeee vsaaltlahl kesqpaiwnr daeedmpqrv vllqrsqttt erdsdtdvee
      481 eelpvenrea vlkdhtkira lvrahsekdq ppfgdsddsv eadksspgih lersqasttv
      541 dintqvekev ppgsaiihik khqvsvegtn qtdvkavggp akllvvslee awplhgdcet
      601 daeegtslta svvadvrksq lpaegdagae waaavlkqer ahevgaqggp pvaqveqdlp
      661 isrenltdlv vdtdtlgest qpqregaqvp tgrereqhvg gtkdsednyg dsedldlqat
      721 qcflenqgle avqsmedept qafmltppqe lgpshcsfqt tgllnckmpp aekasriraa
      781 ekvsrgdqes pdaclpptvp eapappqkpl nsqsqkhlap ppllspllps ikptvrktrq
      841 dgsqeapeap lsselepfhp kpkirtrkss rmtpfpatsa apephpstst aqpvtpkpts
      901 qatrsrtnrs svktpepvvp tapelqpsts tdqpvtsept sqvtrgrksr ssvktpetvv
      961 ptalelqpst stdrpvtsep tsqatrgrkn rssvktpepv vptapelqps tstdqpvtse
     1021 ptyqatrgrk nrssvktpep vvptapelrp ststdrpvtp kptsrttrsr tnmssvktpe
     1081 tvvptapelq iststdqpvt pkptsrttrs rtnmssvknp estvpiapel ppststeqpv
     1141 tpeptsratr grknrssgkt petlvptapk lepststdqp vtpeptsqat rgrtnrssvk
     1201 tpetvvptap elqpststdq pvtpeptsqa trgrtdrssv ktpetvvpta pelqasastd
     1261 qpvtseptsr ttrgrknrss vktpetvvpa apelqpstst dqpvtpepts ratrgrtnrs
     1321 svktpesivp iapelqpsts rnqlvtpept sratrcrtnr ssvktpepvv ptapephptt
     1381 stdqpvtpkl tsratrrktn rssvktpkpv epaasdlepf tptdqsvtpe aiaqggqskt
     1441 lrsstvramp vpttpefqsp vttdqpispe pitqpscikr qraagnpgsl aapidhkpcs
     1501 aplepksqas rnqrwgavra aesltaipep aspqlletpi hasqiqkvep agrsrftpel
     1561 qpkasqsrkr slatmdspph qkqpqrgevs qktviikeee edtaekpgke edvvtpkpgk
     1621 rkrdqaeeep nripsrslrr tklnqestap kvlftgvvda rgeravlalg gslagsaaea
     1681 shlvtdrirr tvkflcalgr gipilsldwl hqsrkagffl ppdeyvvtdp eqeknfgfsl
     1741 qdalsrarer rllegyeiyv tpgvqppppq mgeiisccgg tylpsmprsy kpqrvvitcp
     1801 qdfphcsipl rvglpllspe flltgvlkqe akpeafvlsp lemsst
//
LOCUS       XP_054188803            1635 aa            linear   PRI 20-MAR-2023
DEFINITION  ras GTPase-activating-like protein IQGAP3 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054188803
VERSION     XP_054188803.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332828.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791758) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1635
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22-23.1"
     Protein         1..1635
                     /product="ras GTPase-activating-like protein IQGAP3
                     isoform X2"
                     /calculated_mol_wt=184971
     CDS             1..1635
                     /gene="IQGAP3"
                     /coded_by="XM_054332828.1:53..4960"
                     /db_xref="GeneID:128239"
                     /db_xref="HGNC:HGNC:20669"
ORIGIN      
        1 merraagpgw aacecgeder ltaeemdeqr rqnvayqylc rleeakrwme aclkeelpsp
       61 veleeslrng vllaklghcf apsvvplkki ydveqlryqa tglhfrhtdn infwlsaiah
      121 iglpstffpe ttdiydkknm prvvycihal slflfrlgla pqihdlygkv kftaeelsnm
      181 aselakyglq lpafskiggi lanelsvdea avhaavlain eavergvved tlaalqnpsa
      241 llenlrepla avyqemlaqa kmekaanarn hddresqdiy dhyltqaeiq gninhvnvhg
      301 alevvddale rqspeallka lqdpalalrg vrrdfadwyl eqlnsdreqk aqelglvell
      361 ekeevqagva aantkgdqeq amlhavqrin kairrrvaad tvkelmcpea qlppvypvas
      421 smyqlelavl qqqqgelgqe elfvavemls avvlinrale ardasgfwss lvnpatglae
      481 vegenaqryf dallklrqer gmgedflswn dlqatvsqvn aqtqeetdrv lavslineal
      541 dkgspektls alllpaagld dvslpvapry hlllvaakrq kaqvtgdpga vlwleeirqg
      601 vvranqdtnt aqrmalgvaa inqaikegka aqtervlrnp avalrgvvpd cangyqrale
      661 samakkqrpd tafwvqhdmk dgtayyfhlq tfqgiweqpp gcplntshlt reeiqsavtk
      721 vtaaydrqql wkanvgfviq lqarlrgflv rqkfaehshf lrtwlpavik iqahwrgyrq
      781 rkiylewlqy fkanldaiik iqawarmwaa rrqylrrlhy fqknvnsivk iqaffrarka
      841 qddyrilvha phpplsvvrr fahllnqsqq dflaeaellk lqeevvrkir snqqleqdln
      901 imdikigllv knritlqevv shckkltkrn keqlsdmmvl dkqkglksls kekrqkleay
      961 qhlfyllqtq piylaklifq mpqnkttkfm eavifslyny assrreayll lqlfktalqe
     1021 eikskveqpq dvvtgnptvv rlvvrfyrng rgqsalqeil gkviqdvled kvlsvhtdpv
     1081 hlyknwinqt eaqtgqrshl pydvtpeqal shpevqrrld ialrnllamt dkfllaitss
     1141 vdqipygmry vakvlkatla ekfpdatdse vykvvgnlly yrflnpavva pdafdivama
     1201 aggalaapqr halgavaqll qhaaagkafs gqsqhlrvln dyleethlkf rkfihracqv
     1261 pepeerfavd eysdmvavak pmvyitvgel vnthrllleh qdciapdhqd plhelledlg
     1321 elptipdlig esiaadghtd lsklevsltl tnkfeglead addsntrsll lstkqlladi
     1381 iqfhpgdtlk eilslsasre qeaahkqlms rrqactaqtp eplrrhrslt ahsllplaek
     1441 qrrvlrnlrr lealglvsar ngyqglvdel akdirnqhrh rhrrkaelvk lqatlqglst
     1501 kttfyeeqgd yysqyiracl dhlapdskss gkgkkqpslh ytaaqllekg vlveiedlpa
     1561 shfrnvifdi tpgdeagkfe vnakflgvdm erfqlhyqdl lqlqyegvav mklfnkakvn
     1621 vnllifllnk kflrk
//
LOCUS       XP_054188625             214 aa            linear   PRI 20-MAR-2023
DEFINITION  eukaryotic translation initiation factor 5A-1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054188625
VERSION     XP_054188625.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332650.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_021160020.1) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..214
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     Protein         1..214
                     /product="eukaryotic translation initiation factor 5A-1
                     isoform X1"
                     /calculated_mol_wt=23410
     CDS             1..214
                     /gene="EIF5A"
                     /gene_synonym="eIF-4D; EIF-5A; EIF5A1; eIF5AI; FABAS"
                     /coded_by="XM_054332650.1:536..1180"
                     /db_xref="GeneID:1984"
                     /db_xref="HGNC:HGNC:3300"
                     /db_xref="MIM:600187"
ORIGIN      
        1 mtwtsrqemq gpqppsqcsa qhyvrmalwc skaghvrssr cllrrlasta tprlefhlri
       61 lpspclqylw rsqqqaansa dfpltlllls dcfclalslh thsdnytcsp vfslfcgyps
      121 vpasfsgsps vspalcqslq figlyalaiq lllpyswfsl flssleplls gcfhhvaqgf
      181 snstpspggt pasilsfqvt lllrspvlaf plel
//
LOCUS       XP_054189230             384 aa            linear   PRI 20-MAR-2023
DEFINITION  Wilms tumor protein 1-interacting protein isoform X5 [Homo
            sapiens].
ACCESSION   XP_054189230
VERSION     XP_054189230.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333255.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791809) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="unlocalized"
     Protein         1..384
                     /product="Wilms tumor protein 1-interacting protein
                     isoform X5"
                     /calculated_mol_wt=39875
     CDS             1..384
                     /gene="WTIP"
                     /coded_by="XM_054333255.1:218..1372"
                     /db_xref="GeneID:126374"
                     /db_xref="HGNC:HGNC:20964"
                     /db_xref="MIM:614790"
ORIGIN      
        1 mqrsragade aalllaglal relepgcgsp grgrrgprpg pgdeaapalg rrgkgsggpe
       61 agadglsrge rgprraavpe lsaqpagspr aslagsdggg gggsarssgi slgydqrhgs
      121 prsgrsdprp gpgppsvgsa rssvsslgsr gsagayadfl ppgacpapar spepagpapf
      181 plpalplppg reggpsaaer rlealtrele raleartard yfgicikcgl giygaqqacq
      241 amgslyhtdc ftcdscgrrl rgkafynvge kvycqedfly sgfqqtadkc svcghlimem
      301 ilqalgksyh pgcfrcsvcn ecldgvpftv dvenniycvr dyhtvfapkc ascarpilpa
      361 qgcettirvv smdrdyhvac yhce
//
LOCUS       XP_054190204             144 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein CCDC163 isoform X3 [Homo sapiens].
ACCESSION   XP_054190204
VERSION     XP_054190204.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334229.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..144
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..144
                     /product="transmembrane protein CCDC163 isoform X3"
                     /calculated_mol_wt=15943
     CDS             1..144
                     /gene="CCDC163"
                     /gene_synonym="C1orf231; CCDC163P"
                     /coded_by="XM_054334229.1:465..899"
                     /db_xref="GeneID:126661"
                     /db_xref="HGNC:HGNC:27003"
ORIGIN      
        1 mntslswfeq ldvllnatdg nvvrnkwlyp lgvsteligl cicffcssgc iflgsppqns
       61 tavtpavlwe eseimqkelk llqyqlsqhq elllkqlaeg rqaqvgswki prgapfltws
      121 pasfssmprv lskrtysfga pkcs
//
LOCUS       XP_054191342             718 aa            linear   PRI 20-MAR-2023
DEFINITION  ral guanine nucleotide dissociation stimulator-like 1 isoform X2
            [Homo sapiens].
ACCESSION   XP_054191342
VERSION     XP_054191342.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335367.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..718
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..718
                     /product="ral guanine nucleotide dissociation
                     stimulator-like 1 isoform X2"
                     /calculated_mol_wt=81413
     CDS             1..718
                     /gene="RGL1"
                     /gene_synonym="RGL"
                     /coded_by="XM_054335367.1:426..2582"
                     /db_xref="GeneID:23179"
                     /db_xref="HGNC:HGNC:30281"
                     /db_xref="MIM:605667"
ORIGIN      
        1 mevkpvgept qevskfklst kvestghwlv edhvriwevl kteessiqdw geeveegavy
       61 hvtlkrvqiq qaankgarwl gvegdqlppg htvsqyetck irtikagtle klvenlltaf
      121 gdndftyisi flstyrgfas tkevlellld rygnltspnc eedgsqssse skmvirnaia
      181 silrawldqc aedfrepphf pclqklldyl trmmpgsdpe rraqnlleqf qkqevetdng
      241 lpntisfsle eeeelegges aeftcfsedl vaeqltymda qlfkkvvphh clgciwsrrd
      301 kkenkhlapt iratisqfnt ltkcvvstil ggkelktqqr akiiekwini ahecrllknf
      361 sslraivsal qsnsiyrlkk twaavprdrm lmfeelsdif sdhnnhltsr ellmkegtsk
      421 fanldssvke nqkrtqrrlq lqkdmgvmqg tvpylgtflt dltmldtalq dyiegglinf
      481 ekrrrefevi aqikllqsac nsycmtpdqk fiqwfqrqql lteeesyals ceieaaadas
      541 ttspkprksm vkrlsllflg sdmitsptpt keqpkstasg ssgesmdsvs vsscesnhse
      601 aeegsitpmd tpdepqkklt sqdktpaviq ramlkhnlds dpaeeyelvq visedkelvi
      661 pdsanvfyam nsqvnfdfil rkknsmeeqv klrsrtsltl prtakrgcws nrhskitl
//
LOCUS       XP_054191496            1616 aa            linear   PRI 20-MAR-2023
DEFINITION  terminal uridylyltransferase 4 isoform X12 [Homo sapiens].
ACCESSION   XP_054191496
VERSION     XP_054191496.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335521.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1616
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1616
                     /product="terminal uridylyltransferase 4 isoform X12"
                     /calculated_mol_wt=181681
     CDS             1..1616
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /coded_by="XM_054335521.1:256..5106"
                     /db_xref="GeneID:23318"
                     /db_xref="HGNC:HGNC:28981"
                     /db_xref="MIM:613692"
ORIGIN      
        1 meesktlkse nhepkknvic eeskavqvig nqtlkarndk svkeienssp nrnsskknkq
       61 ndiciektev ksckvnaanl pgpkdlglvl rdqshckakk fpnspvkaek atisqaksek
      121 atslqakaek spkspnsvka ekassyqmks ekvpsspaea ekgpslllkd mrqktelqqi
      181 gkkipssfts vdkvnieavg gekcalqnsp rsqkqqtctd ntgdsddsas giedvsddls
      241 kmkndesnke nssemdylen atvidesalt peqrlglkqa eerlerdhif rlekrspeyt
      301 ncrylcklcl ihieniqgah khikekrhkk nilekqeese lrslpppspa hlaalsvavi
      361 elakehgitd ddlrvrqeiv eemskvittf lpecslrlyg ssltrfalks sdvnidikfp
      421 pkmnhpdlli kvlgilkknv lyvdvesdfh akvpvvvcrd rksgllcrvs agndmacltt
      481 dlltalgkie pvfiplvlaf rywaklcyid sqtdggipsy cfalmvmffl qqrkppllpc
      541 llgswiegfd pkrmddfqlk giveekfvkw ecnsssatek nsiaeenkak adqpkddtkk
      601 tetdnqsnam kekhgkspla letpnrvslg qlwlellkfy tldfaleeyv icvriqdilt
      661 renknwpkrr iaiedpfsvk rnvarslnsq lvyeyvverf raayryfacp qtkggnkstv
      721 dfkkrekgki snkkpvksnn matngcillg ettekinaer eqpvqcdemd ctsqrciidn
      781 nnllvneldf adhgqdsssl stsksseiep kldkkqddla psetclkkel sqcncidlsk
      841 spdpdkstgt dcrsnletes shqsvctdts atscnckate dasdlndddn lptqelyyvf
      901 dkfiltsgkp ptivcsickk dghskndcpe dfrkidlkpl ppmtnrfrei ldlvckrcfe
      961 karlclfgss kngfgfrdsd ldicmtlegh enaeklncke iienlakilk rhpglrnilp
     1021 ittakvpivk fehrrsgleg dislyntlaq hntrmlatya aidprvqylg ytmkvfakrc
     1081 digdasrgsl ssyayilmvl yflqqrkppv ipvlqeifdg kqipqrmvdg wnafffdkte
     1141 elkkrlpslg knteslgelw lgllrfytee fdfkeyvisi rqkkllttfe kqwtskciai
     1201 edpfdlnhnl gagvsrkmtn fimkafingr klfgtpfypl igreaeyffd srvltdgela
     1261 pndrccrvcg kighymkdcp krkssllfrl kkkdseeeke gneeekdsrd vldprdlhdt
     1321 rdfrdprdlr cficgdaghv rrecpevkla rqrnssvaaa qlvrnlvnaq qvagsaqqqg
     1381 dqsirtrqss ecsespsysp qpqpfpqnss qsaaitqpss qpgsqpklgp pqqgaqpphq
     1441 vqmplynfpq sppaqyspmh nmgllpmhpl qipapswpih gpvihsapgs apsniglndp
     1501 siifaqpaar pvaipntshd ghwprtvapn slvnsgavgn sepgfrgltp pipwehaprp
     1561 hfplvpaswp yglhqnfmhq gnarfqpnkp fytqdrcatr rcrercphpp rgnvse
//
LOCUS       XP_054193262             388 aa            linear   PRI 20-MAR-2023
DEFINITION  protoporphyrinogen oxidase isoform X14 [Homo sapiens].
ACCESSION   XP_054193262
VERSION     XP_054193262.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337287.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..388
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..388
                     /product="protoporphyrinogen oxidase isoform X14"
                     /calculated_mol_wt=41574
     CDS             1..388
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP"
                     /coded_by="XM_054337287.1:329..1495"
                     /db_xref="GeneID:5498"
                     /db_xref="HGNC:HGNC:9280"
                     /db_xref="MIM:600923"
ORIGIN      
        1 mrlctvlpsa aldlspsltl kvaslamdsl crgvfagnsr elsirscfps lfqaeqthrs
       61 illglllgag rtpqpdsali rqalaerwsq wslrggleml pqalethlts rgvsvlrgqp
      121 vcglslqaeg rwkvslrdss leadhvisai pasvlsellp aeaaplaral saitavsvav
      181 vnlqyqgahl pvqgfghlvp ssedpgvlgi vydsvafpeq dgsppglrvt vmlggswlqt
      241 leasgcvlsq elfqqraqea aatqlglkem pshclvhlhk tknqlkwrqs hdrtvewpke
      301 ypgrsrkqap silhvpgcql lrcrdrdhlg aasvsthsqr tylvfcclss pppqqpgrhr
      361 crhlgsgrcg ggvsrhgagp rggatrad
//
LOCUS       XP_054193653            1244 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase ASH1L isoform X7 [Homo sapiens].
ACCESSION   XP_054193653
VERSION     XP_054193653.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337678.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1244
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1244
                     /product="histone-lysine N-methyltransferase ASH1L isoform
                     X7"
                     /calculated_mol_wt=143521
     CDS             1..1244
                     /gene="ASH1L"
                     /gene_synonym="ASH1; ASH1L1; KMT2H; MRD52"
                     /coded_by="XM_054337678.1:166..3900"
                     /db_xref="GeneID:55870"
                     /db_xref="HGNC:HGNC:19088"
                     /db_xref="MIM:607999"
ORIGIN      
        1 mvqnedqepm eksidaviat asappssspg rshskdrtlg kpdsllvpav asdscnnsis
       61 llsekltssc sphhikrsvv eamqrqarkm cnydkilatk knldhvnkil kakklqrqar
      121 tgnnfvkrrp grprkcplqa vvsmqafqaa qfvnpelnrd eegaalhlsp dtvtdvieav
      181 vqsvnlnpeh kkglkrkgwl leeqtrkkqk plpeeeeqen nksfneapve ipspsetpak
      241 psepestlqp vlsliprekk pprppkkkyq kaglysdvyk ttdpksrliq lkkekleytp
      301 geheyglfpa pihvgkylrq kridfqlpyd ilwqwkhnql ykkpdvplyk kirsnvyvdv
      361 kplsgyeatt cnckkpdddt rkgcvddcln rmifaecspn tcpcgeqccn qriqrhewvq
      421 clerfraeek gwgirtkepl kagqfiieyl gevvseqefr nrmieqyhnh sdhyclnlds
      481 gmvidsyrmg nearfinhsc dpncemqkws vngvyrigly alkdmpagte ltydynfhsf
      541 nvekqqlckc gfekcrgiig gksqrvnglt ssknsqpmat hkksgrskek rkskhklkkr
      601 rghlseepse nintptrltp qlqmkpmsnr ernfvlkhhv flvrnwekir qkqeevkhts
      661 dnihsaslyt rwngicrddg niksdvfmtq fsalqtarsv rtrrlaaaee nievaraarl
      721 aqifkeicdg iisykdssrq alaapllnlp pkkknadyye kisdpldlit iekqiltgyy
      781 ktveafdadm lkvfrnaeky ygrkspvgrd vcrlrkayyn arheasaqid eivgetasea
      841 dssetsvsek enghekdddv ircicglykd eglmiqcdkc mvwqhcdcmg vnsdvehylc
      901 eqcdprpvdr evpmiprphy aqpgcvyfic llrddlllrq gdcvylmrds rrtpdghpvr
      961 qsyrllshin rdkldifrie klwknekeer fafghhyfrp hethhspsrr fyhnelfrvp
     1021 lyeiipleav vgtccvldly tyckgrpkgv keqdvyicdy rldksahlfy kihrnrypvc
     1081 tkpyafdhfp kkltpkkdfs phyvpdnykr nggrsswkse rskpplkdlg qeddalplie
     1141 evlasqeqaa neipsleepe regatanvse gekkteessq epqstctpee rrhnqrerln
     1201 qillnlleki pgknaidvty lleegsgrkl rrrtlfipen sfrk
//
LOCUS       XP_054194673             457 aa            linear   PRI 20-MAR-2023
DEFINITION  Fc receptor-like protein 2 isoform X5 [Homo sapiens].
ACCESSION   XP_054194673
VERSION     XP_054194673.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338698.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..457
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..457
                     /product="Fc receptor-like protein 2 isoform X5"
                     /calculated_mol_wt=50331
     CDS             1..457
                     /gene="FCRL2"
                     /gene_synonym="CD307b; FCRH2; IFGP4; IRTA4; SPAP1; SPAP1A;
                     SPAP1B; SPAP1C"
                     /coded_by="XM_054338698.1:60..1433"
                     /db_xref="GeneID:79368"
                     /db_xref="HGNC:HGNC:14875"
                     /db_xref="MIM:606509"
ORIGIN      
        1 mllwsllvif davteqadsl tlvapssvfe gdsivlkcqg eqnwkiqkma yhkdnkelsv
       61 fkkfsdfliq savlsdsgny fcstkgqlfl wdktsnivki kvqelfqrpv ltassfqpie
      121 ggpvslkcet rlspqrldvq lqfcffrenq vlgsgwsssp elqisavwse dtgsywckae
      181 tvthrirkqs lqsqihvqri pisnvsleir apggqvtegq klillcsvag gtgnvtfswy
      241 reatgtsmgk ktqrslsael eipavkesda gkyycradng hvpiqskvvn ipvrkhsgny
      301 sceannglga qcseavpvsi sgpdgyrrdl mtagvlwglf gvlgftgval llyalfhkis
      361 gessatnepr gasrpnpqef tyssptpdme elqpvyvnvg svdvdvvysq vwsmqqpess
      421 glpshllfce eiitlggirr edqqqgwgii ktcyktl
//
LOCUS       XP_054195264            1330 aa            linear   PRI 20-MAR-2023
DEFINITION  protein dispatched homolog 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054195264
VERSION     XP_054195264.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339289.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 11% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1330
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1330
                     /product="protein dispatched homolog 1 isoform X2"
                     /calculated_mol_wt=149795
     CDS             1..1330
                     /gene="DISP1"
                     /gene_synonym="DISPA"
                     /coded_by="XM_054339289.1:769..4761"
                     /db_xref="GeneID:84976"
                     /db_xref="HGNC:HGNC:19711"
                     /db_xref="MIM:607502"
ORIGIN      
        1 mctmfivvca lvgvlvpelp dfsdpllgfe prgtaigqrl vtwnnmvknt gykatlanyp
       61 fkyadeqaks hrddrwsddh yerekrevdw nfhkdsffcd vpsdrysrvv ftssggetlw
      121 nlpaiksmcn vdnsrirshp qfgdlcqrtt aasccpswtl gnyiailnnr sscqkiverd
      181 vshtlkllrt cakhyqngtl gpdcwdmaar rkdqlkctnv prkctkynav yqilhylvdk
      241 dfmtpktady atpalkysml fsptekgesm mniyldnfen wnssdgvtti tgiefgikhs
      301 lfqdyllmdt vypaiaiviv llvmcvytks mfitlmtmfa iisslivsyf lyrvvfhfef
      361 fpfmnltali ilvgigadda fvlcdvwnyt kfdkphaets etvsitlqha alsmfvtsft
      421 taaafyanyv snitaircfg vyagtailvn yvlmvtwlpa vvvlheryll niftcfkkpq
      481 qqiydnkscw tvacqkchkv lfaiseasri ffekvlpciv ikfrylwlfw flaltvggay
      541 ivcinpkmkl pslelsefqv frsshpfery daeykklfmf ervhhgeelh mpitviwgvs
      601 pedngnplnp kskgkltlds sfniaspasq awilhfcqkl rnqtffyqtd eqdftscfie
      661 tfkqwmenqd cdepalypcc shwsfpykqe ifelcikrai melerstgyh ldsktpgprf
      721 dindtiravv lefqstylft layekmhqfy kevdswisse lssapeglsn gwfvsnlefy
      781 dlqdslsdgt liamglsvav afsvmllttw niiislyaii siagtifvtv gslvllgwel
      841 nvlesvtisv avglsvdfav hygvayrlap dpdregkvif slsrvgsama maalttfvag
      901 ammmpstvla ytqlgtfmml imciswafat fffqcmcrcl gpqgtcgqip lpkklqcsaf
      961 shalstspsd kgqskthtin ayhldprgpk selehefyel eplashscta pekttyeeth
     1021 icseffnsqa knlgmpvhaa ynselskste sdtgsallqp pleqhtvchf fslnqrcscp
     1081 daykhlnygp hscqqmgdcl chqcspttss fvqiqngvap lkathqaveg fvhpithihh
     1141 cpclqgrvkp agmqnslprn fflhpvqhiq aqekigktnv hslqrsieeh lpkmaepssf
     1201 vcrstgsllk tccdpenkqr elcknrdvsn lessggtenk aggkvelsls qtdasvnseh
     1261 fnqnepkvlf nhlmgeagcr scpnnsqscg rivrvkcnsv dcqmpnmean vpavlthsel
     1321 sgeslliktl
//
LOCUS       XP_054195442             286 aa            linear   PRI 20-MAR-2023
DEFINITION  B-cell lymphoma/leukemia 10 isoform X1 [Homo sapiens].
ACCESSION   XP_054195442
VERSION     XP_054195442.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339467.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..286
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..286
                     /product="B-cell lymphoma/leukemia 10 isoform X1"
                     /calculated_mol_wt=32422
     CDS             1..286
                     /gene="BCL10"
                     /gene_synonym="c-E10; CARMEN; CIPER; CLAP; IMD37; mE10"
                     /coded_by="XM_054339467.1:1070..1930"
                     /db_xref="GeneID:8915"
                     /db_xref="HGNC:HGNC:989"
                     /db_xref="MIM:603517"
ORIGIN      
        1 mlspqlgswr cfvrdwrlrf ilksgclgcs lslerrlyqv kdpkqwtknv klfcirglee
       61 aqqlkaqpgi plalenlrvy lcekiiaerh fdhlrakkil sredteeisc rtssrkragk
      121 lldylqenpk gldtlvesir rektqnfliq kitdevlklr niklehlkgl kcsscepfpd
      181 gatnnlsrsn sdesnfsekl rastvmyhpe gessttpffs tnsslnlpvl evgrtentif
      241 ssttlprpgd pgapplppdl qleeegtcan ssemflplrs rtvsrq
//
LOCUS       XP_054221356             529 aa            linear   PRI 20-MAR-2023
DEFINITION  polyunsaturated fatty acid 5-lipoxygenase isoform X3 [Homo
            sapiens].
ACCESSION   XP_054221356
VERSION     XP_054221356.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365381.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 7% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..529
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..529
                     /product="polyunsaturated fatty acid 5-lipoxygenase
                     isoform X3"
                     /calculated_mol_wt=60624
     CDS             1..529
                     /gene="ALOX5"
                     /gene_synonym="5-LO; 5-LOX; 5LPG; LOG5"
                     /coded_by="XM_054365381.1:204..1793"
                     /db_xref="GeneID:240"
                     /db_xref="HGNC:HGNC:435"
                     /db_xref="MIM:152390"
ORIGIN      
        1 mewnpgfpls idakchkdlp rdiqfdsekg vdfvlnyska menlfinrfm hmfqsswndf
       61 adfekifvki sntiservmn hwqedlmfgy qflngcnpvl irrctelpek lpvttemvec
      121 slerqlsleq evqqgnifiv dfelldgida nktdpctlqf laapicllyk nlankivpia
      181 iqlnqipgde npiflpsdak ydwllakiwv rssdfhvhqt ithllrthlv sevfgiamyr
      241 qlpavhpifk llvahvrfti aintkareql icecglfdka natgggghvq mvqramkdlt
      301 yaslcfpeai kargmesked ipyyfyrddg llvweairtf taevvdiyye gdqvveedpe
      361 lqdfvndvyv ygmrgrkssg fpksvksreq lseyltvvif tasaqhaavn fgqydwcswi
      421 pnapptmrap pptakgvvti eqivdtlpdr grscwhlgav walsqfqene lflgmypeeh
      481 fiekpvkeam arfrknleai vsviaernkk kqlpyyylsp dripnsvai
//
LOCUS       XP_054223513             476 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase Chk1 isoform X2 [Homo sapiens].
ACCESSION   XP_054223513
VERSION     XP_054223513.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367538.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..476
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..476
                     /product="serine/threonine-protein kinase Chk1 isoform X2"
                     /calculated_mol_wt=54289
     CDS             1..476
                     /gene="CHEK1"
                     /gene_synonym="CHK1"
                     /coded_by="XM_054367538.1:331..1761"
                     /db_xref="GeneID:1111"
                     /db_xref="HGNC:HGNC:1925"
                     /db_xref="MIM:603078"
ORIGIN      
        1 mavpfvedwd lvqtlgegay gevqlavnrv teeavavkiv dmkravdcpe nikkeicink
       61 mlnhenvvkf yghrregniq ylfleycsgg elfdriepdi gmpepdaqrf fhqlmagvvy
      121 lhgigithrd ikpenlllde rdnlkisdfg latvfrynnr erllnkmcgt lpyvapellk
      181 rrefhaepvd vwscgivlta mlagelpwdq psdscqeysd wkekktylnp wkkidsapla
      241 llhkilvenp saritipdik kdrwynkplk kgakrprvts ggvsespsgf skhiqsnldf
      301 spvnsassee nvkysssqpe prtglslwdt spsyidklvq gisfsqptcp dhmllnsqll
      361 gtpgssqnpw qrlvkrmtrf ftkldadksy qclketcekl gyqwkkscmn qvtisttdrr
      421 nnklifkvnl lemddkilvd frlskgdgle fkrhflkikg klidivssqk vwlpat
//
LOCUS       XP_054225331             494 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protease serine 4 isoform X1 [Homo sapiens].
ACCESSION   XP_054225331
VERSION     XP_054225331.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369356.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..494
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..494
                     /product="transmembrane protease serine 4 isoform X1"
                     /calculated_mol_wt=54459
     CDS             1..494
                     /gene="TMPRSS4"
                     /gene_synonym="CAP2; CAPH2; MT-SP2; TMPRSS3"
                     /coded_by="XM_054369356.1:226..1710"
                     /db_xref="GeneID:56649"
                     /db_xref="HGNC:HGNC:11878"
                     /db_xref="MIM:606565"
ORIGIN      
        1 mlqdpdsdqp lnsldvkplr kpripmetfr kvgipiiial lslasiiivv vlikvildky
       61 yflcgqplhf iprkqlcdge ldcplgedee hcvksfpegp avavrlskdr stlqvldsat
      121 gnwfsacfdn ftealaetac rqmgysskpt fraveigpdq dldvveiten sqelrmrnss
      181 gpclsgslvs lhclacgksl ktprvvggee asvdswpwqv siqydkqhvc ggsildphwv
      241 ltaahcfrkh tdvfnwkvra gsdklgsfps lavakiiiie fnpmypkdnd ialmklqfpl
      301 tfsgtvrpic lpffdeeltp atplwiigwg ftkqnggkms dillqasvqv idstrcnadd
      361 ayqgevtekm mcagipeggv dtcqgdsggp lmyqsdqwhv vgivswgygc ggpstpgvyt
      421 kvsaylnwiy nvwkdrtiqr scnspgtglv iqqpavplme lrsarhthrl itcvcflsfp
      481 alqplsplcp fpwd
//
LOCUS       XP_054226433             453 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptotagmin-7 isoform X9 [Homo sapiens].
ACCESSION   XP_054226433
VERSION     XP_054226433.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370458.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..453
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..453
                     /product="synaptotagmin-7 isoform X9"
                     /calculated_mol_wt=51211
     CDS             1..453
                     /gene="SYT7"
                     /gene_synonym="IPCA-7; IPCA7; PCANAP7; SYT-VII; SYTVII"
                     /coded_by="XM_054370458.1:86..1447"
                     /db_xref="GeneID:9066"
                     /db_xref="HGNC:HGNC:11514"
                     /db_xref="MIM:604146"
ORIGIN      
        1 mrvmhlapgp gspselraps rdvllvsaii tvslsvtvvl cglchwcqrk lgkryknsle
       61 tvgtpdsgrg rsekkaindl drdfwnnnes tvqqkwssyp pkefilnisp yapygdprls
      121 lklpaggkav ntapvpgqtp hdesdrrtep rssvsdlvns ltsemlmlsp gseedeaheg
      181 csrenlgriq fsvgynfqes tltvkimkaq elpakdfsgt sdpfvkiyll pdkkhkletk
      241 vkrknlnphw netflfegfp yekvvqrily lqvldydrfs rndpigevsi plnkvdltqm
      301 qtfwkdlkpc sdgsgsrgel llslcynpsa nsiivniika rnlkamdigg tsdpyvkvwl
      361 mykdkrvekk ktvtmkrnln pifnesfafd ipteklrett iiitvmdkdk lsrndvigki
      421 ylswksgpge vkhwkdmiar prqpvaqwhq lka
//
LOCUS       XP_054227024            2521 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat serine/threonine-protein kinase 2 isoform X1
            [Homo sapiens].
ACCESSION   XP_054227024
VERSION     XP_054227024.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371049.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2521
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2521
                     /product="leucine-rich repeat serine/threonine-protein
                     kinase 2 isoform X1"
                     /calculated_mol_wt=285283
     CDS             1..2521
                     /gene="LRRK2"
                     /gene_synonym="AURA17; DARDARIN; PARK8; RIPK7; ROCO2"
                     /coded_by="XM_054371049.1:136..7701"
                     /db_xref="GeneID:120892"
                     /db_xref="HGNC:HGNC:18618"
                     /db_xref="MIM:609007"
ORIGIN      
        1 masgscqgce edeetlkkli vrlnnvqegk qietlvqile dllvftyseh asklfqgkni
       61 hvpllivlds ymrvasvqqv gwsllcklie vcpgtmqslm gpqdvgndwe vlgvhqlilk
      121 mltvhnasvn lsviglktld llltsgkitl lildeesdif mlifdamhsf pandevqklg
      181 ckalhvlfer vseeqltefv enkdymills altnfkdeee ivlhvlhclh slaipcnnve
      241 vlmsgnvrcy nivveamkaf pmseriqevs ccllhrltlg nffnilvlne vhefvvkavq
      301 qypenaalqi salsclallt etiflnqdle eknenqendd egeedklfwl eacykaltwh
      361 rknkhvqeaa cwalnnllmy qnslhekigd edghfpahre vmlsmlmhss skevfqasan
      421 alstlleqnv nfrkillskg ihlnvlelmq khihspevae sgckmlnhlf egsntsldim
      481 aavvpkiltv mkrhetslpv qlealrailh fivpgmpees redtefhhkl nmvkkqcfkn
      541 dihklvlaal nrfignpgiq kcglkvissi vhfpdaleml slegamdsvl htlqmypddq
      601 eiqclglsli gylitkknvf igtghllaki lvsslyrfkd vaeiqtkgfq tilailklsa
      661 sfskllvhhs fdlvifhqms snimeqkdqq flnlcckcfa kvamddylkn vmleracdqn
      721 nsimveclll lgadanqake gsslicqvce kesspklvel llnsgsreqd vrkaltisig
      781 kgdsqiisll lrrlaldvan nsiclggfci gkvepswlgp lfpdktsnlr kqtniastla
      841 rmviryqmks aveegtasgs dgnfsedvls kfdewtfipd ssmdsvfaqs ddldsegseg
      901 sflvkkksns isvgefyrda vlqrcspnlq rhsnslgpif dhedllkrkr kilssddslr
      961 ssklqshmrh sdsisslase reyitsldls anelrdidal sqkccisvhl ehleklelhq
     1021 naltsfpqql cetlkslthl dlhsnkftsf psyllkmsci anldvsrndi gpsvvldptv
     1081 kcptlkqfnl synqlsfvpe nltdvvekle qlilegnkis gicsplrlke lkilnlsknh
     1141 isslsenfle acpkvesfsa rmnflaampf lppsmtilkl sqnkfscipe ailnlphlrs
     1201 ldmssndiqy lpgpahwksl nlrellfshn qisildlsek aylwsrvekl hlshnklkei
     1261 ppeigclenl tsldvsynle lrsfpnemgk lskiwdlpld elhlnfdfkh igckakdiir
     1321 flqqrlkkav pynrmklmiv gntgsgkttl lqqlmktkks dlgmqsatvg idvkdwpiqi
     1381 rdkrkrdlvl nvwdfagree fysthphfmt qralylavyd lskgqaevda mkpwlfnika
     1441 rassspvilv gthldvsdek qrkacmskit kellnkrgfp airdyhfvna teesdalakl
     1501 rktiinesln fkirdqlvvg qlipdcyvel ekiilserkn vpiefpvidr krllqlvren
     1561 qlqldenelp havhflnesg vllhfqdpal qlsdlyfvep kwlckimaqi ltvkvegcpk
     1621 hpkgiisrrd vekflskkrk fpknymsqyf kllekfqial pigeeyllvp sslsdhrpvi
     1681 elphcensei iirlyempyf pmgfwsrlin rlleispyml sgreralrpn rmywrqgiyl
     1741 nwspeayclv gsevldnhpe sflkitvpsc rkgcillgqv vdhidslmee wfpglleidi
     1801 cgegetllkk walysfndge ehqkillddl mkkaeegdll vnpdqprlti pisqiapdli
     1861 ladlprniml nndelefeqa pefllgdgsf gsvyraayeg eevavkifnk htslrllrqe
     1921 lvvlchlhhp slisllaagi rprmlvmela skgsldrllq qdkasltrtl qhrialhvad
     1981 glrylhsami iyrdlkphnv llftlypnaa iiakiadygi aqyccrmgik tsegtpgfra
     2041 pevargnviy nqqadvysfg lllydilttg griveglkfp nefdeleiqg klpdpvkeyg
     2101 capwpmvekl ikqclkenpq erptsaqvfd ilnsaelvcl trrillpknv ivecmvathh
     2161 nsrnasiwlg cghtdrgqls fldlntegyt seevadsril clalvhlpve keswivsgtq
     2221 sgtllvinte dgkkrhtlek mtdsvtclyc nsfskqskqk nfllvgtadg klaifedktv
     2281 klkgaaplki lnignvstpl mclsestnst ernvmwggcg tkifsfsndf tiqklietrt
     2341 sqlfsyaafs dsniitvvvd talyiakqns pvvevwdkkt eklcglidcv hflrevmvke
     2401 nkeskhkmsy sgrvktlclq kntalwigtg gghillldls trrlirviyn fcnsvrvmmt
     2461 aqlgslknvm lvlgynrknt eeiqscltvw dinlphevqn lekhievrke laekmrrtsv
     2521 e
//
LOCUS       XP_054227764             846 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G-protein coupled receptor D1 isoform X2 [Homo sapiens].
ACCESSION   XP_054227764
VERSION     XP_054227764.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371789.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..846
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..846
                     /product="adhesion G-protein coupled receptor D1 isoform
                     X2"
                     /calculated_mol_wt=93422
     CDS             1..846
                     /gene="ADGRD1"
                     /gene_synonym="GPR133; PGR25"
                     /coded_by="XM_054371789.1:560..3100"
                     /db_xref="GeneID:283383"
                     /db_xref="HGNC:HGNC:19893"
                     /db_xref="MIM:613639"
ORIGIN      
        1 mekllrlccw yswlllfyyn fqvrgvysrs qdhpgfqvla sashywplen vdgihelqdt
       61 tgasrthklt vlpsrnatfv ysndsaysnl satvdivegk vnkgiylkee kgvtllyygr
      121 ynssciskpe qcgpegpywt hvlftwkske glkvyvngtl stsdpsgkvs rdygesnvnl
      181 vigseqdqak cyengafdef iiweraltpd eiamyftaai gkhallsstl pslfmtytas
      241 pvmptdayhp iitnlteerk tfqspgvils ylqnvslslp skslseqtal nltktflkav
      301 geilllpgwi alsedsavvl slidtidtvm ghvssnlhgs tpqvtvegss amaefsvaki
      361 lpktvnsshy rfpahgqsfi qipheafhrh awstvvglly hsmhyylnni wpahtkiaea
      421 mhhqdcllfa tshlislevs ppptlsqnls gsplitvhlk hrltrkqhse atnssnrvfv
      481 ycafldfssg egvwsnhgca ltrgnltysv crcthltnfa ilmqvvplel arghqvalss
      541 isyvgcslsv lclvatlvtf avlssvstir nqryhihanl sfavlvaqvl llisfrlepg
      601 ttpcqvmavl lhyfflsafa wmlveglhly smvikvfgse dskhryyygm gwgfpllici
      661 islsfamdsy gtsnncwlsl asgaiwafva palfvivvni giliavtrvi sqisadnyki
      721 hgdpsafklt akavavllpi lgtswvfgvl avngcavvfq ymfatlnslq glfiflfhcl
      781 lnsevraafk hktkvwslts ssartsnakp fhsdlmngtr pgmastklsp wdksshsahr
      841 vdlsav
//
LOCUS       XP_054228404             441 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 91 isoform X1 [Homo sapiens].
ACCESSION   XP_054228404
VERSION     XP_054228404.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372429.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..441
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..441
                     /product="coiled-coil domain-containing protein 91 isoform
                     X1"
                     /calculated_mol_wt=49902
     CDS             1..441
                     /gene="CCDC91"
                     /gene_synonym="HSD8; p56"
                     /coded_by="XM_054372429.1:405..1730"
                     /db_xref="GeneID:55297"
                     /db_xref="HGNC:HGNC:24855"
                     /db_xref="MIM:617366"
ORIGIN      
        1 mddddfggfe aaetfdggsg etqttspaip waafptvsgv hlspsspeiv ldrdhsssig
       61 clssdaiiss penthaansi vsqtipkaqi qqsththldi slfplgltde ksngtialvd
      121 dsedpganvs niqlqqkiss leiklkvsee ekqrikqdve slmekhnvle kgflkekeqe
      181 aisfqdryke lqekhkqele dmrkagheal siivdeykal lqssvkqqve aiekqyisai
      241 ekqahkceel lnaqhqrlle mldtekellk ekikealiqq sqeqkeilek cleeerqrnk
      301 ealvsaakle keamkdavlk vveeerknle kahaeerelw ktehakdqek vsqeiqkaiq
      361 eqrkisqetv kaaiieeqkr sekaveeavk rtrdelieyi keqkrldqvi rqrslsslel
      421 flscaqkqls aliatepvdi e
//
LOCUS       XP_054228874             306 aa            linear   PRI 20-MAR-2023
DEFINITION  sin3 histone deacetylase corepressor complex component SDS3 isoform
            X2 [Homo sapiens].
ACCESSION   XP_054228874
VERSION     XP_054228874.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372899.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..306
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..306
                     /product="sin3 histone deacetylase corepressor complex
                     component SDS3 isoform X2"
                     /calculated_mol_wt=35852
     CDS             1..306
                     /gene="SUDS3"
                     /gene_synonym="SAP45; SDS3"
                     /coded_by="XM_054372899.1:719..1639"
                     /db_xref="GeneID:64426"
                     /db_xref="HGNC:HGNC:29545"
                     /db_xref="MIM:608250"
ORIGIN      
        1 mltlrpvlcp rlhllspkps hclqtepqpn rfretktslt fsvhpdgkrm yqdklaslkr
       61 qlqqlqegtl qeyqkrmkkl dqqykerirn aelflqlete qvernyikek kaavkefedk
      121 kvelkenlia eleekkkmie nekltmeltg dsmevkpimt rklrrrpndp vpipdkrrkp
      181 apaqlnyllt deqimedlrt lnklkspkrp aspsspehlp atpaespaqr feariedgkl
      241 yydkrwyhks qaiyleskdn qklscvissv ganeiwvrkt sdstkmriyl gqlqrglfvi
      301 rrrsaa
//
LOCUS       XP_054228891             592 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 15 isoform X4 [Homo sapiens].
ACCESSION   XP_054228891
VERSION     XP_054228891.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372916.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..592
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..592
                     /product="TBC1 domain family member 15 isoform X4"
                     /calculated_mol_wt=68427
     CDS             1..592
                     /gene="TBC1D15"
                     /gene_synonym="RAB7-GAP"
                     /coded_by="XM_054372916.1:430..2208"
                     /db_xref="GeneID:64786"
                     /db_xref="HGNC:HGNC:25694"
                     /db_xref="MIM:612662"
ORIGIN      
        1 mvntvsfkrk phtngdapsh rngkskwsfl fsltdlksik qnkegmgwsy lvfclkddvv
       61 lpalhfhqgd skllieslek yvvlcespqd krtllvncqn kslsqsfenl ldepaygliq
      121 aglldrrkll waihhwkkik kdpytatmig fskvtnyifd slrgsdpsth qrppsemadf
      181 lsdaipglki nqqeepgfev itridlgerp vvqrrepvsl eewtknidse grilnvdnmk
      241 qmifrgglsh alrkqawkfl lgyfpwdstk eertqlqkqk tdeyfrmklq wksisqeqek
      301 rnsrlrdyrs liekdvnrtd rtnkfyegqd npglillhdi lmtycmydfd lgyvqgmsdl
      361 lspllyvmen evdafwcfas ymdqmhqnfe eqmqgmktql iqlstllrll dsgfcsyles
      421 qdsgylyfcf rwllirfkre fsfldilrlw evmwtelpct nfhlllccai lesekqqime
      481 khygfneilk hinelsmkid vedilckaea islqmvkcke lpqavceilg lqgsevttpd
      541 sdvgedenvv mtpcptsafq snalptlsas garndsptqi pvssdvcrlt pa
//
LOCUS       XP_054229124             387 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 140 isoform X4 [Homo sapiens].
ACCESSION   XP_054229124
VERSION     XP_054229124.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373149.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..387
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..387
                     /product="zinc finger protein 140 isoform X4"
                     /calculated_mol_wt=44771
     CDS             1..387
                     /gene="ZNF140"
                     /gene_synonym="pHZ-39"
                     /coded_by="XM_054373149.1:143..1306"
                     /db_xref="GeneID:7699"
                     /db_xref="HGNC:HGNC:12925"
                     /db_xref="MIM:604082"
ORIGIN      
        1 metsfvsfse ssgeikdfsp knviyddssq ylimerilsq gpvyssfkgg wkckdhteml
       61 qenqgcirkv tvshqealaq hmnistverp ygchecgktf grrfslvlhq rthtgekpya
      121 ckecgktfsq isnlvkhqmi htgkkpheck dcnktfsyls fliehqrtht gekpyectec
      181 gkafsrasnl trhqrihigk kqyicrkcgk afssgselir hqithtgekp yeciecgkaf
      241 rrfshltrhq sihttktpye cnecrkafrc hsflikhqri hageklyecd ecgkvftwha
      301 sliqhtksht gekpyacaec dkafsrsfsl ilhqrthtge kpyvckvcnk sfswssnlak
      361 hqrthtldnp yeyensfnyh sfltehq
//
LOCUS       XP_054229463             278 aa            linear   PRI 20-MAR-2023
DEFINITION  sterol O-acyltransferase 2 isoform X5 [Homo sapiens].
ACCESSION   XP_054229463
VERSION     XP_054229463.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373488.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..278
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..278
                     /product="sterol O-acyltransferase 2 isoform X5"
                     /calculated_mol_wt=31239
     CDS             1..278
                     /gene="SOAT2"
                     /gene_synonym="ACACT2; ACAT2; ARGP2"
                     /coded_by="XM_054373488.1:93..929"
                     /db_xref="GeneID:8435"
                     /db_xref="HGNC:HGNC:11178"
                     /db_xref="MIM:601311"
ORIGIN      
        1 mepggarlrl qrteglgger erqpcgdgnt ethrapdlvq wtrhmeavka qlleqaqgql
       61 relldramre aiqsypsqdk plpppppgsl srtqepslgk qkvfiirksl ldelmevqhf
      121 rtiyhmfiag lcvfiistla idfidegrll lefdllifsf gqlplalvtw vpmflstlla
      181 pyqalrlwar gtwtqatglg callaahavv lcalpvhvav ehqlppasrc vlvfeqvrfl
      241 mksysflrea vpgtlrarra nrkargeqkr wengrsae
//
LOCUS       XP_054229556             554 aa            linear   PRI 20-MAR-2023
DEFINITION  EF-hand calcium-binding domain-containing protein 4B isoform X3
            [Homo sapiens].
ACCESSION   XP_054229556
VERSION     XP_054229556.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373581.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..554
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..554
                     /product="EF-hand calcium-binding domain-containing
                     protein 4B isoform X3"
                     /calculated_mol_wt=63221
     CDS             1..554
                     /gene="CRACR2A"
                     /gene_synonym="EFCAB4B; RAB46"
                     /coded_by="XM_054373581.1:482..2146"
                     /db_xref="GeneID:84766"
                     /db_xref="HGNC:HGNC:28657"
                     /db_xref="MIM:614178"
ORIGIN      
        1 maapdgrvvs rpqrlgqgsg qgpkgsgacl hpldsleqke tqeqtsgqlv mlrkaqeffq
       61 tcdaegkgfi arkdmqrlhk elplsleele dvfdaldadg ngyltpqeft tgfshfffsq
      121 nnpsqedvge qvaqrheekv ylsrgdedlg dmgkdeeaqf rmlmdrlgaq kvledesdvk
      181 qlwlqlkkee phllsnfedf ltriisqlqe aheeknelec alkrkiaayd eeiqhlyeem
      241 eqqiksekeq fllkdterfq arsqeleqkl lckeqeleql tqkqkrlegq ctalhhdkhe
      301 tkaentklkl tnqelarele rtswelqdaq qqleslqqea cklhqekeme vyrvteslqr
      361 ekagllkqld flrernkhlr derdicfqkn kaakantaas raswkkrsgs vigkyvdsrg
      421 ilrssqseee eevfgiprrs slglsgyplt eeepgtgepg pggpyprplr riisveedpl
      481 pqlldggfeq plskcseeee vsdqgvqgqi peapplkltp tsprgqpvgk ealckvllpf
      541 cweqelqqgr smih
//
LOCUS       XP_054230630             244 aa            linear   PRI 20-MAR-2023
DEFINITION  DCN1-like protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054230630
VERSION     XP_054230630.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374655.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..244
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..244
                     /product="DCN1-like protein 2 isoform X2"
                     /calculated_mol_wt=28206
     CDS             1..244
                     /gene="DCUN1D2"
                     /gene_synonym="C13orf17; DCNL2"
                     /coded_by="XM_054374655.1:4926..5660"
                     /db_xref="GeneID:55208"
                     /db_xref="HGNC:HGNC:20328"
ORIGIN      
        1 mactqagert aiycltqnew rldeatdsff qnpdslhres mrnavdkkkl erlygrykdp
       61 qdenkigvdg iqqfcddlsl dpasisvlvi awkfraatqc efsrkefldg mtelgcdsme
      121 klkallprle qelkdtakfk dfyqftftfa knpgqkgldl emavaywklv lsgrfkfldl
      181 wntflmehhk rsiprdtwnl lldfgnmiad dmsnydeega wpvliddfve yarpvvtggk
      241 rslf
//
LOCUS       XP_054233230             448 aa            linear   PRI 20-MAR-2023
DEFINITION  creatine kinase U-type, mitochondrial isoform X1 [Homo sapiens].
ACCESSION   XP_054233230
VERSION     XP_054233230.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377255.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..448
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..448
                     /product="creatine kinase U-type, mitochondrial isoform
                     X1"
                     /calculated_mol_wt=50290
     CDS             1..448
                     /gene="CKMT1B"
                     /gene_synonym="CKMT; CKMT1; UMTCK"
                     /coded_by="XM_054377255.1:527..1873"
                     /db_xref="GeneID:1159"
                     /db_xref="HGNC:HGNC:1995"
                     /db_xref="MIM:123290"
ORIGIN      
        1 magpfsrlls arpglrllal agagslaagf llrpepvraa serrrlypps qtwptgqlpg
       61 nctrsrrlcp psmvtgyplp saeypdlrkh nncmashltp avyarlcdkt tptgwtldqc
      121 iqtgvdnpgh pfiktvgmva gdeetyevfa dlfdpviqer hngydprtmk httdldaski
      181 rsgyfderyv lssrvrtgrs irglslppac traerrever vvvdalsglk gdlagryyrl
      241 semteaeqqq liddhflfdk pvsplltaag mardwpdarg iwhnneksfl iwvneedhtr
      301 vismekggnm krvferfcrg lkeverliqe rgwefmwner lgyiltcpsn lgtglragvh
      361 iklpllskds rfpkilenlr lqkrgtggvd taatggvfdi snldrlgkse velvqlvidg
      421 vnylidcerr lergqdirip tpvihtkh
//
LOCUS       XP_054235972             210 aa            linear   PRI 20-MAR-2023
DEFINITION  PDZ domain-containing protein 9 isoform X2 [Homo sapiens].
ACCESSION   XP_054235972
VERSION     XP_054235972.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379997.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..210
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..210
                     /product="PDZ domain-containing protein 9 isoform X2"
                     /calculated_mol_wt=23948
     CDS             1..210
                     /gene="PDZD9"
                     /gene_synonym="C16orf65"
                     /coded_by="XM_054379997.1:11..643"
                     /db_xref="GeneID:255762"
                     /db_xref="HGNC:HGNC:28740"
ORIGIN      
        1 maegeeeggd vlisvghanv lgytlreflq llqhitigtv lqikvyrdfi nipeewqeiy
       61 dlipeakfpv tstpkkiela kdesftssdd nenvdldkrl qyyrypwstv hhparrpisi
      121 srdwhgykkk nhtisvgkdi ncdvmihrdd kkevrapspy wimvkqdnes sssstsstsd
      181 afwledcaqv eegkaqlvsk dqdttafpnt
//
LOCUS       XP_054236310            1107 aa            linear   PRI 20-MAR-2023
DEFINITION  MHC class II transactivator isoform X5 [Homo sapiens].
ACCESSION   XP_054236310
VERSION     XP_054236310.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380335.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1107
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1107
                     /product="MHC class II transactivator isoform X5"
                     /calculated_mol_wt=120948
     CDS             1..1107
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /coded_by="XM_054380335.1:97..3420"
                     /db_xref="GeneID:4261"
                     /db_xref="HGNC:HGNC:7067"
                     /db_xref="MIM:600005"
ORIGIN      
        1 melgpleggy lellnsdadp lclyhfydqm dlageeeiel ysepdtdtin cdqfsrllcd
       61 megdeetrea yaniaeldqy vfqdsqlegl skdifiehig pdevigesme mpaevgqksq
      121 krpfpeelpa dlkhwkpaep ptvvtgsllv gpvsdcstlp clplpalfnq epasgqmrle
      181 ktdqipmpfs ssslsclnlp egpiqfvpti stlphglwqi seagtgvssi fiyhgevpqa
      241 sqvpppsgft vhglptspdr pgstspfaps atdlpsmpep altsranmte hktsptqcpa
      301 agevsnklpk wpepveqfyr slqdtygaep agpdgilvev dlvqarlers sskslerela
      361 tpdwaerqla qgglaevlla akehrrpret rviavlgkag qgksywagav srawacgrlp
      421 qydfvfsvpc hclnrpgday glqdllfslg pqplvaadev fshilkrpdr vllildafee
      481 leaqdgflhs tcgpapaepc slrgllaglf qkkllrgctl lltarprgrl vqslskadal
      541 felsgfsmeq aqayvmryfe ssgmtehqdr altllrdrpl llshshsptl cravcqlsea
      601 llelgedakl pstltglyvg llgraaldsp pgalaelakl awelgrrhqs tlqedqfpsa
      661 dvrtwamakg lvqhppraae selafpsfll qcflgalwla lsgeikdkel pqylaltprk
      721 krpydnwleg vprflaglif qpparclgal lgpsaaasvd rkqkvlaryl krlqpgtlra
      781 rqllellhca heaeeagiwq hvvqelpgrl sflgtrltpp dahvlgkale aagqdfsldl
      841 rstgicpsgl gslvglscvt rfraalsdtv alweslrqhg etkllqaaee kftiepfkak
      901 slkdvedlgk lvqtqrtrss sedtagelpa vrdlkklefa lgpvsgpqaf pklvriltaf
      961 sslqhldlda lsenkigdeg vsqlsatfpq lksletlnls qnnitdlgay klaealpsla
     1021 asllrlslyn ncicdvgaes larvlpdmvs lrvmdvqynk ftaagaqqla aslrrcphve
     1081 tlamwtptip fsvqehlqqq dsrislr
//
LOCUS       XP_054236344            1416 aa            linear   PRI 20-MAR-2023
DEFINITION  multidrug resistance-associated protein 1 isoform X35 [Homo
            sapiens].
ACCESSION   XP_054236344
VERSION     XP_054236344.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380369.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1416
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1416
                     /product="multidrug resistance-associated protein 1
                     isoform X35"
                     /calculated_mol_wt=158172
     CDS             1..1416
                     /gene="ABCC1"
                     /gene_synonym="ABC29; ABCC; DFNA77; GS-X; MRP; MRP1"
                     /coded_by="XM_054380369.1:328..4578"
                     /db_xref="GeneID:4363"
                     /db_xref="HGNC:HGNC:51"
                     /db_xref="MIM:158343"
ORIGIN      
        1 mtplnktkta lgfllwivcw adlfysfwer srgiflapvf lvsptllgit mllatfliql
       61 errkgvqssg imltfwlval vcalailrsk imtalkedaq vdlfrditfy vyfsllliql
      121 vlscfsdrsp lfsetihdpn pcpessasfl sritfwwitg livrgyrqpl egsdlwslnk
      181 edtseqvvpv lvknwkkeca ktrkqpvkvv ysskdpaqpk esskvdanee vealivkspq
      241 kewnpslfkv lyktfgpyfl msfffkaihd lmmfsgpqil kllikfvndt kapdwqgyfy
      301 tvllfvtacl qtlvlhqyfh icfvsgmrik tavigavyrk alvitnsark sstvgeivnl
      361 msvdaqrfmd latyinmiws aplqvilaly llwlnlgpsv lagvavmvlm vpvnavmamk
      421 tktyqvahmk skdnriklmn eilngikvlk lyawelafkd kvlairqeel kvlkksayls
      481 avgtftwvct pflasvslkr lriflsheel epdsierrpv kdgggtnsit vrnatftwar
      541 sdpptlngit fsipegalva vvgqvgcgks sllsallaem dkveghvaik gsvayvpqqa
      601 wiqndslren ilfgcqleep yyrsviqaca llpdleilps gdrteigekg vnlsggqkqr
      661 vslaravysn adiylfddpl savdahvgkh ifenvigpkg mlknktrilv thsmsylpqv
      721 dviivmsggk isemgsyqel lardgafaef lrtyasteqe qdaeengvtg vsgpgkeakq
      781 mengmlvtds agkqlqrqls ssssysgdis rhhnstaelq kaeakkeetw klmeadkaqt
      841 gqvklsvywd ymkaiglfis flsiflfmcn hvsalasnyw lslwtddpiv ngtqehtkvr
      901 lsvygalgis qgiavfgysm avsiggilas rclhvdllhs ilrspmsffe rtpsgnlvnr
      961 fskeldtvds mipevikmfm gslfnvigac ivillatpia aiiipplgli yffvqrfyva
     1021 ssrqlkrles vsrspvyshf netllgvsvi rafeeqerfi hqsdlkvden qkayypsiva
     1081 nrwlavrlec vgncivlfaa lfavisrhsl saglvglsvs yslqvttyln wlvrmsseme
     1141 tnivaverlk eysetekeap wqiqetapps swpqvgrvef rnyclryred ldfvlrhinv
     1201 tinggekvgi vgrtgagkss ltlglfrine saegeiiidg iniakiglhd lrfkitiipq
     1261 dpvlfsgslr mnldpfsqys deevwtslel ahlkdfvsal pdkldhecae ggenlsvgqr
     1321 qlvclarall rktkilvlde ataavdletd dliqstirtq fedctvltia hrlntimdyt
     1381 rvivldkgei qeygapsdll qqrglfysma kdaglv
//
LOCUS       XP_054170226            1052 aa            linear   PRI 20-MAR-2023
DEFINITION  membrane-bound transcription factor site-1 protease isoform X1
            [Homo sapiens].
ACCESSION   XP_054170226
VERSION     XP_054170226.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314251.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1052
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1052
                     /product="membrane-bound transcription factor site-1
                     protease isoform X1"
                     /calculated_mol_wt=117618
     CDS             1..1052
                     /gene="MBTPS1"
                     /gene_synonym="PCSK8; S1P; SEDKF; SKI-1"
                     /coded_by="XM_054314251.1:510..3668"
                     /db_xref="GeneID:8720"
                     /db_xref="HGNC:HGNC:15456"
                     /db_xref="MIM:603355"
ORIGIN      
        1 mklvniwlll lvvllcgkkh lgdrlekksf ekapcpgcsh ltlkvefsst vveyeyivaf
       61 ngyftakarn sfissalkss evdnwriipr nnpssdypsd feviqikekq kaglltledh
      121 pnikrvtpqr kvfrslkyae sdptvpcnet rwsqkwqssr plrraslslg sgfwhatgrh
      181 ssrrllraip rqvaqtlqad vlwqmgytga nvrvavfdtg lsekhphfkn vkertnwtne
      241 rtlddglghg tfvagviasm recqgfapda elhifrvftn nqvsytswfl dafnyailkk
      301 idvlnlsigg pdfmdhpfvd kvweltannv imvsaigndg plygtlnnpa dqmdvigvgg
      361 idfedniarf ssrgmttwel pggygrmkpd ivtygagvrg sgvkggcral sgtsvaspvv
      421 agavtllvst vqkrelvnpa smkqaliasa rrlpgvnmfe qghgkldllr ayqilnsykp
      481 qaslspsyid ltecpymwpy csqpiyyggm ptvvnvtiln gmgvtgrivd kpdwqpylpq
      541 ngdnievafs yssvlwpwsg ylaisisvtk kaaswegiaq ghvmitvasp aeteskngae
      601 qtstvklpik vkiiptpprs krvlwdqyhn lryppgyfpr dnlrmkndpl dwngdhihtn
      661 frdmyqhlrs mgyfvevlga pftcfdasqy gtllmvdsee eyfpeeiakl rrdvdnglsl
      721 vifsdwynts vmrkvkfyde ntrqwwmpdt gganipalne llsvwnmgfs dglyegeftl
      781 anhdmyyasg csiakfpedg vvitqtfkdq glevlkqeta vvenvpilgl yqipaegggr
      841 ivlygdsncl ddshrqkdcf wlldallqyt sygvtppsls hsgnrqrpps gagsvtperm
      901 egnhlhrysk vleahlgdpk prplpacprl swakpqplne tapsnlwkhq kllsidldkv
      961 vlpnfrsnrp qvrplspges gawdipggim pgrynqevgq tipvfaflga mvvlaffvvq
     1021 inkaksrpkr rkprvkrpql mqqvhppktp sv
//
LOCUS       XP_054170543             818 aa            linear   PRI 20-MAR-2023
DEFINITION  pyruvate dehydrogenase phosphatase regulatory subunit,
            mitochondrial-like isoform X2 [Homo sapiens].
ACCESSION   XP_054170543
VERSION     XP_054170543.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314568.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..818
                     /product="pyruvate dehydrogenase phosphatase regulatory
                     subunit, mitochondrial-like isoform X2"
                     /calculated_mol_wt=92026
     CDS             1..818
                     /gene="LOC128966601"
                     /coded_by="XM_054314568.1:960..3416"
                     /db_xref="GeneID:128966601"
ORIGIN      
        1 mmfyrllsiv grqraspgwq nwssarnsas aaearsmalp tqaqvvvcgg gitgtsvahh
       61 qskmgwkdiv lleqgrlaag strfcagils tarhltieqk madysnklyh qleqetgiqt
      121 gytrtgsifl aqtqdrlisl krinaglnvi gipseiispk kvaelhhlln vhdlvgamhv
      181 pedavvssad valalasaas qngvqvydrt svlhvmvkkg qvtgvetdkg qiecqyfvnc
      241 agqwayelgl sneepvsipl hacehfyllt rpletplqss tptivdadgr iyirnwqggi
      301 lsggfeknpk piftegknql eiqnlqedwd hfepllssll rrmpeletle imklvncpet
      361 ftpdmrcimg espavqgyfv lagmnsagls fgggagkyla ewmvhgypse nvweldlkrf
      421 galqssrtfl rhrvmevmpl mydlkvprwd fqtgrqlrts plydrldaqg arwmekhgfe
      481 rpkyfvppdk dllaleqskt fykpdwfdiv esevkcckea vcvidmssft kfeitstgdq
      541 alevlqylfs ndldvpvghi vhtgmlnegg gyendcsiar lnkrsffmis ptdqqvhcwa
      601 wlkkhmpkds nllledvtwk ytalnligpr avdvlselsy apmtpdhfps lfckemsvgy
      661 akgirvmsmt htgepgfmly ipiegmdfig rdallqqkqn gvykrltmfi lddhdsdldl
      721 wpwwgepiyr ngqyvgktts saysyslerh vclgfvhnfs edtgeeqvvt adfinrgeye
      781 idiagyrfqa kaklypvasl ftqkrrkddm elsdlhgk
//
LOCUS       XP_054171459             606 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 652 isoform X1 [Homo sapiens].
ACCESSION   XP_054171459
VERSION     XP_054171459.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315484.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..606
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..606
                     /product="zinc finger protein 652 isoform X1"
                     /calculated_mol_wt=69613
     CDS             1..606
                     /gene="ZNF652"
                     /coded_by="XM_054315484.1:726..2546"
                     /db_xref="GeneID:22834"
                     /db_xref="HGNC:HGNC:29147"
                     /db_xref="MIM:613907"
ORIGIN      
        1 mshtasscqe lvencavhva gmaqedsrrg qvpssfyhga nqeldlstkv ykresgspys
       61 vlvdtkmskp hlheteeqpy fretravsdv havkedrens ddteeeeeev sykreqiive
      121 vnlnnqtlnv skgekgvssq sketpvlkts seeeeeesee eatddsndyg enekqkkkek
      181 ivekvsvtqr rtrraasvaa attsptprtt rgrrksvepp krkkratkep kapvqkakce
      241 eketltcekc prvfntrwyl ekhmnvthrr mqicdkcgkk fvleselslh qqtdcekniq
      301 cvscnksfkk lwslhehiki vhgyaekkfs ceicekkfyt mahvrkhmva htkdmpftce
      361 tcgksfkrsm slkvhslqhs gekpfrcenc derfqykyql rshmsihigh kqfmcqwcgk
      421 dfnmkqyfde hmkthtgekp ficeicgksf tsrpnmkrhr rthtgekpyp cdvcgqrfrf
      481 snmlkahkek cfrvtspvnv ppavqipltt spatpvpsvv ntattptppi nmnpvstlpp
      541 rpiphpfshl hihphphhph hlpippvphl ppppalfkse plnhrgqsed nflrhlaekn
      601 ssaqhh
//
LOCUS       XP_054171981             453 aa            linear   PRI 20-MAR-2023
DEFINITION  inward rectifier potassium channel 16 isoform X1 [Homo sapiens].
ACCESSION   XP_054171981
VERSION     XP_054171981.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316006.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..453
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..453
                     /product="inward rectifier potassium channel 16 isoform
                     X1"
                     /calculated_mol_wt=51772
     CDS             1..453
                     /gene="KCNJ16"
                     /gene_synonym="BIR9; HKTD; KIR5.1"
                     /coded_by="XM_054316006.1:569..1930"
                     /db_xref="GeneID:3773"
                     /db_xref="HGNC:HGNC:6262"
                     /db_xref="MIM:605722"
ORIGIN      
        1 mlkmvltenp nqeiatslef lllqnspgsl raqqrmsyyg ssyhiinada kypgyppehi
       61 iaekrrarrr llhkdgscnv yfkhifgewg syvvdifttl vdtkwrhmfv ifslsyilsw
      121 lifgsvfwli afhhgdllnd pditpcvdnv hsftgaflfs letqttigyg yrcvteecsv
      181 avlmvilqsi lsciintfii gaalakmata rkraqtirfs yfaligmrdg klclmwrigd
      241 frpnhvvegt vraqllryte dsegrmtmaf kdlklvndqi ilvtpvtivh eidhesplya
      301 ldrkavakdn feilvtfiyt gdstgtshqs rssyvpreil wghrfndvle vkrkyykvnc
      361 lqfegsvevy apfcsakqld wkdqqlhiek appvrescts dtkarrrsfs avaivsscen
      421 peetttsath eyretpyqka lltlnrisve sqm
//
LOCUS       XP_054172411             709 aa            linear   PRI 20-MAR-2023
DEFINITION  platelet endothelial cell adhesion molecule isoform X5 [Homo
            sapiens].
ACCESSION   XP_054172411
VERSION     XP_054172411.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316436.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..709
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..709
                     /product="platelet endothelial cell adhesion molecule
                     isoform X5"
                     /calculated_mol_wt=79203
     CDS             1..709
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /coded_by="XM_054316436.1:196..2325"
                     /db_xref="GeneID:5175"
                     /db_xref="HGNC:HGNC:8823"
                     /db_xref="MIM:173445"
ORIGIN      
        1 mqprwaqgat mwlgvlltll lcsslegqen sftinsvdmk slpdwtvqng knltlqcfad
       61 vsttshvkpq hqmlfykddv lfynissmks tesyfipevr iydsgtykct vivnnkektt
      121 aeyqvlvegv psprvtldkk eaiqggivrv ncsvpeekap ihftieklel nekmvklkre
      181 knsrdqnfvi lefpveeqdr vlsfrcqari isgihmqtse stkselvtvt esfstpkfhi
      241 sptgmimega qlhikctiqv thlaqefpei iiqkdkaiva hnrhgnkavy svmamvehsg
      301 nytckvessr iskvssivvn itelfskpel essfthldqg erlnlscsip gappanftiq
      361 kedtivsqtq dftkiasksd sgtyictagi dkvvkksntv qivvcemlsq prisydaqfe
      421 vikgqtievr cesisgtlpi syqllktskv lenstknsnd pavfkdnpte dveyqcvadn
      481 chshakmlse vlrvkviapv devqisilss kvvesgediv lqcavnegsg pitykfyrek
      541 egkpfyqmts natqafwtkq kankeqegey yctafnranh assvprskil tvrvilapwk
      601 kgliavviig viialliiaa kcyflrkaka kqmpvemsrp avpllnsnne kmsdpnmean
      661 shyeplnsdv qytevqvssa eshkdlgkkd tetvysevrk avpengrlp
//
LOCUS       XP_054173075             595 aa            linear   PRI 20-MAR-2023
DEFINITION  homologous recombination OB-fold protein isoform X10 [Homo
            sapiens].
ACCESSION   XP_054173075
VERSION     XP_054173075.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317100.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..595
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..595
                     /product="homologous recombination OB-fold protein isoform
                     X10"
                     /calculated_mol_wt=64124
     CDS             1..595
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP"
                     /coded_by="XM_054317100.1:214..2001"
                     /db_xref="GeneID:78995"
                     /db_xref="HGNC:HGNC:28460"
                     /db_xref="MIM:618611"
ORIGIN      
        1 macslqklfa veeefededf lsavedaenr ftgslpvnag rlrpvssrpq etvqaqssrl
       61 lllhptapse alglpdldlc lpasstpsad srpscigaap lrpvstsssw ignqrrvtvt
      121 evlretarpq ssalhplltf esqqqqvggf egpeqdefdk vlasmeleep gmelecgvss
      181 eaipilpaqq regsvlakka rvvdlsgscq kgpvpaihka gimsaqdesl dpviqcrtpr
      241 pplrpgavgh lpvptaltvp tqqlhwevcp qrspvqalqp lqaargtiqs spqnrfpcqp
      301 fqspsswlsg kahlprprtp nsscstpsrt ssglfpripl qpqapvssig spvgtpkgpq
      361 galqtpivtn hlvqlvtaas rtpqqpthps traktrrfpg pagilphqsg rsledimvsa
      421 pqtpthgala kfqteivass qasveedfgr gpwltmkstl glderdpscf lctysivmvl
      481 rkaalkqlpr nkvpnmavmi ksltrstmda svvfkdptge mqgtvhrlll etcqnelkpg
      541 svlllkqigv fspslrnhyl nvtpnnlvhi yspdsgdgsf lkpsqpfpkm twmds
//
LOCUS       XP_054173255             357 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear pore complex protein Nup85 isoform X3 [Homo sapiens].
ACCESSION   XP_054173255
VERSION     XP_054173255.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317280.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..357
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..357
                     /product="nuclear pore complex protein Nup85 isoform X3"
                     /calculated_mol_wt=40684
     CDS             1..357
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /coded_by="XM_054317280.1:84..1157"
                     /db_xref="GeneID:79902"
                     /db_xref="HGNC:HGNC:8734"
                     /db_xref="MIM:170285"
ORIGIN      
        1 meeldgeptv tlipgvnskk nqmyfdwgpg emlvcetsfn kkeksemvps cpfiyiirkd
       61 vdvysqilrk lfneshgifl glqrideelt gksrksqlvr vsknyrsvir acmeemhqva
      121 iaakdpangr qfssqvsils ameliwnlce ilfievapag plllhlldwv rlhvcevdsl
      181 sadvlgsenp skhdsfwnlp gntqtltele lkwqhwheec erylqdstfa tsphlesllk
      241 imlgdeaall eqkellsnwy hflvtrllys nptvkpidlh yyaqssldlf lggesspepl
      301 dnillaafef dihqvikecr nktdlsrrsl ldagsikges illfpvaeek ekyheeg
//
LOCUS       XP_054173278            2878 aa            linear   PRI 20-MAR-2023
DEFINITION  myosin XVB isoform X1 [Homo sapiens].
ACCESSION   XP_054173278
VERSION     XP_054173278.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317303.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2878
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2878
                     /product="myosin XVB isoform X1"
                     /calculated_mol_wt=315135
     CDS             1..2878
                     /gene="MYO15B"
                     /gene_synonym="MYO15BP"
                     /coded_by="XM_054317303.1:213..8849"
                     /db_xref="GeneID:80022"
                     /db_xref="HGNC:HGNC:14083"
ORIGIN      
        1 mgrnqrkapq rlerpgrpas geqesgsasa dgapsrerrs drgqaarakp aaepataggq
       61 gtpggrrkpt aegnggcrrp gaglspkaqe rqsnaqrqgr gprggrggrl eegslsggee
      121 lggrrrrkrk dkgpsarrgr rtprslngdt sggdggsscp dsetreaqes gsqrgtarel
      181 rptpeptdmg segtktgpes alepssdgld sdwphadtrg regssgtgpl gasehsggds
      241 dssplgtgpg rgsraamasr tfedssrapr dtgpakdasd nraqrgaepe tmqastarap
      301 rhqvptspvp gdpfdqedet pdpkfavvfp rihragrass srsseeasad aptgegrgwp
      361 ragvgghseg crtsgegvsg lrrgsllapt apdgpsldes gssseaelet lndeppvrwa
      421 qgsgphegpr lgaavllprl sletrlqqeg dpglrgslre lwepededea vlerdlelsl
      481 rpgleappfp gakgrslgdg ledmedlarl rlvcdssvll clkkrfhlgr iytfggpvll
      541 vlnphrslpl fspevqasyh prkalsttph ifaivasayd laqntgqdpc illcsshcsg
      601 hsgsgkteaa kkimqflssl eqdqtgnrec qledvlpils sfghaktiln anasrfgqvf
      661 clylqqgviv gasvshylle tsrvvfqaqa ersfhvfykl lagldsiere rlslqgpety
      721 yylnqgqacr lqgkedaqdf egllkalqgl glcpeelnav wavlaailql gnicfssser
      781 esqevaavss waeihtaarl lrvppecleg avtrrvtetp ygqvsrslpv esavdardal
      841 akalysrlfh rllrrtnarl appgeggsig tvtvvdaygf ealrvngleq lcnnlaserl
      901 qlfssqmlla qeeeecrrel lswvpvpqpp rescldllvd qphsllsild aqtwlsqatd
      961 htflqrshyh hgdhpsyakp rlplpvftvr hyagtvtyqv hkflnrnrdq ldpavvemlg
     1021 qsqlqlvgsl fqeaepqsrg grgrptlasr fqqaledlia rlgrshvyfi qcltpnpgkl
     1081 pglfdvghvt eqlhqaaile avgtrsanfp vrvpfeafla sfqalgsegq edlsdrekcg
     1141 avlsqvlgae splyhlgatk vllqeqgwqr leelrdqqrs qalvdlhrsf htcisrqrvl
     1201 prmqahmrgf qarkrylrrr aalgqlntil lvaqpllqrr qrlqlgrwqg whsseraler
     1261 vpsmelgrle ipaelavmlk taeshrdala gsiteclppe vparpsltlp adidlfpfss
     1321 fvaigfqeps lprpgqplak pltqldgdnp qraldinkvm lrllgdgsle swqrqimgty
     1381 lvrqgqcrpg lrnelfsqlv aqlwqnpdeq qsqrgwalma vllsafpplp vlqkpllkfv
     1441 sdqaprgmaa lcqhkllgal eqsqlasgat rahpptqlew lagwrrgrma ldvftfseec
     1501 ysaeveswtt geqlagwilq srgleapprg wsvslhsrda wqdlagcdfv ldlisqtedl
     1561 gdparprsyp itplgsaeai plapgiqaps lppgpppgpa ptlpsrdhtg evqrsgsldg
     1621 fldqifqpvi ssglsdleqs walssrmkgg gaigptqqgy pmvypgmiqm payqpgmvpa
     1681 pmpmmpamgt vpampamvvp pqpplpslda gqlavqqqnf iqqqalilaq qmtaqamsls
     1741 leqqmqqrqq qaraseaasq aspsavtskp rkpptppekp qrdlgseggc lretseeaed
     1801 rpyqpksfqq krnyfqrmgq pqitvrtmkp pakvhipqge aqeeeeeeee eeeqeeqeve
     1861 travpspppp pivkkplkqg gakapkeaea epaketaakg hgqgpaqgrg tvvrssdskp
     1921 krpqpsreig niirmyqsrp gpvpvpvqps rppkaflrki dpkdealakl gingahsspp
     1981 mlspspgkgp ppavaprpka plqlgpsssi kekqgplldl fgqklpiaht pppppapplp
     2041 lpedpgtlsa errcltqpve dqgvstqlla psgsvcfsyt gtpwklflrk evfyprenfs
     2101 hpyylrllce qilrdtfses cirisqnerr kmkdllggle vdldslttte dsvkkrivva
     2161 ardnwanyfs rffpvsgesg sdvqllavsh rglrllkvtq gpglrpdqlk ilcsysfaev
     2221 lgvecrggst lelslkseql vlhtararai ealvelflne lkkdsgyvia lrsyitdncs
     2281 llsfhrgdli kllpvatlep gwqfgsaggr sglfpadivq paaapdfsfs keqrsgwhkg
     2341 qlsngepgla rwdraserpa hpwsqahsdd seatslssva yaflpdshsy tmqefarryf
     2401 rrsqallgqt dggaagkdtd slvqytkapi qesllslsdd vsklavasfl almrfmgdqs
     2461 kprgkdemdl lyellklcqq eklrdeiycq vikqvtghpr pehctrgwsf lslltgffpp
     2521 strlmpyltk flqdsgpsqe larssqehlq rtvkyggrrr mpppgemkaf lkgqairlll
     2581 ihlpggvdyr tniqtftvaa evqeelcrqm gitepqevqe falflikeks qlvrplqpae
     2641 ylnsvvvdqd vslhsrrlhw etplhfdnst yisthysqvl wdylqgklpv sakadaqlar
     2701 laalqhlska nrntpsgqdl layvpkqlqr qvntasiknl mgqelrrleg hspqeaqisf
     2761 ieamsqlplf gytvygvlrv smqalsgptl lglnrqhlil mdpssqslyc rialkslqrl
     2821 hllspleekg ppglevnygs adnpqtiwfe lpqaqellyt tvflidssas ctewpsin
//
LOCUS       XP_054174469            1310 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 521 isoform X1 [Homo sapiens].
ACCESSION   XP_054174469
VERSION     XP_054174469.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318494.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1310
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1310
                     /product="zinc finger protein 521 isoform X1"
                     /calculated_mol_wt=147608
     CDS             1..1310
                     /gene="ZNF521"
                     /gene_synonym="EHZF; Evi3"
                     /coded_by="XM_054318494.1:164..4096"
                     /db_xref="GeneID:25925"
                     /db_xref="HGNC:HGNC:24605"
                     /db_xref="MIM:610974"
ORIGIN      
        1 msrrkqakpr slkdpnckle dktedgeald ckkrpedgee ledeavhscd sclqvfesls
       61 ditehkinqc qltdgvdved dptcswpass psskdqtsps hgegcdfgee eggpglpypc
      121 qfcdksfsrl sylkhheqsh sdklpfkcty csrlfkhkrs rdrhiklhtg dkkyhcsecd
      181 aafsrsdhlk ihlkthtsnk pykcaicrrg flsssslhgh mqvhernkdg sqsgsrmedw
      241 kmkdtqkcsq ceegfdfped lqkhiaechp ecspnedraa lqcvychelf veetslmnhm
      301 eqvhsgekkn scsicsesfh tveelyshmd shqqpescnh snspslvtvg ytsvssttpd
      361 snlsvdsstm veaappipks rgrkraaqqt pdmtgpsskq akvtysciyc nkqlfsslav
      421 lqihlktmhl dkpeqahicq yclevlpsly nlnehlkqvh eaqdpglivs ampaivyqcn
      481 fcsevvndln tlqehircsh gfanpaakds naffcphcym gfltdsslee hirqvhcdls
      541 gsrfgspvlg tpkepvvevy scsyctnspi fnsvlklnkh ikenhknipl alnyihngkk
      601 sralsplspv aieqtslkmm qavggaparp tgeyicnqcg akytsldsfq thlkthldtv
      661 lpkltcpqcn kefpnqesll khvtihfmit styyicescd kqftsvddlq khlldmhtfv
      721 ffrctlcqev fdskvsiqlh lavkhsnekk vyrctscnwd frnetdlqlh vkhnhlenqg
      781 kvhkcifcge sfgtevelqc hitthskkyn ckfcskafha iillekhlre khcvfetktp
      841 ncgtngaseq vqkeevelqt lltnsqeshn shdgseedvd tsepmygcdi cgaaytmetl
      901 lqnhqlrdhn irpgesaivk kkaelikgny kcnvcsrtff senglrehmq thlgpvkhym
      961 cpicgerfps lltltehkvt hsksldtgnc rickmplqse eeflehcqmh pdlrnsltgf
     1021 rcvvcmqtvt stlelkihgt fhmqktgngs avqttgrgqh vqklykcasc lkefrskqdl
     1081 vkldinglpy glcagcvnls ksaspginvp pgtnrpglgq nenlsaiegk gkvgglktrc
     1141 sscnvkfese selqnhiqti hrelvpdsns tqlktpqvsp mprispsqsd ektyqcikcq
     1201 mvfynewdiq vhvanhmide glnhecklcs qtfdspaklq chliehsfeg mggtfkcpvc
     1261 ftvfvqankl qqhifsahgq edkiydctqc pqkfffqtel qnhtmtqhss
//
LOCUS       XP_047302801             372 aa            linear   PRI 20-MAR-2023
DEFINITION  tubulin beta 8B isoform X4 [Homo sapiens].
ACCESSION   XP_047302801
VERSION     XP_047302801.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047446845.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..372
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..372
                     /product="tubulin beta 8B isoform X4"
                     /calculated_mol_wt=41511
     Region          1..355
                     /region_name="PLN00220"
                     /note="tubulin beta chain; Provisional"
                     /db_xref="CDD:215107"
     CDS             1..372
                     /gene="LOC124908013"
                     /coded_by="XM_047446845.1:160..1278"
                     /db_xref="GeneID:124908013"
ORIGIN      
        1 mdsvhsgpfg qvfrpdnfis gqcgagnnwa kgrytegael tesvmdvvrk eaescdclqg
       61 fqlthslggg tgsgmgtlli skireeypdr iintfsilps pkvsdtvvep ynatlsvhql
      121 ienadetfci dnealydics rtlklptpty gdlnhlvsat msgvttclrf pgqlnadlrk
      181 lavnmvpfpr lhffmpgfap ltsrgsqqyr altvaeltqq mfdaknmmaa cdprhgcylt
      241 vaaifrgrmp mrevdeqmfn iqdknssyfa dwfpdnvkta vcdipprglk msatfignna
      301 aiqelftcvs eqftamfrrk aflhwytgeg mdemefteae snmndlvsey qqyqdataee
      361 eedeeyaeee va
//
LOCUS       XP_054176140             702 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Niban 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054176140
VERSION     XP_054176140.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320165.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..702
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..702
                     /product="protein Niban 3 isoform X2"
                     /calculated_mol_wt=78093
     CDS             1..702
                     /gene="NIBAN3"
                     /gene_synonym="BCNP1; FAM129C"
                     /coded_by="XM_054320165.1:75..2183"
                     /db_xref="GeneID:199786"
                     /db_xref="HGNC:HGNC:24130"
                     /db_xref="MIM:609967"
ORIGIN      
        1 mggrpsspld kqqrqhlrgq vdtllrnflp cyrgqlaasv lrqisrelgp qeptgsqllr
       61 skklprvreh rgpltqlrgh pprwqpifcv lrgdgrlewf shkeeyengg hclgstaltg
      121 ytlltsqrey lrlldalcpe slgdhtqeep dsllevpvsf plflqhpfrr hlcfsaatre
      181 aqhawrlalq ggirlqgtvl qrsqapaara fldavrlyrq hqghfgdddv tlgsdaevlt
      241 avlmreqlpa lraqtlpglr gagrarawaw telldavhaa vlagasaglc afqpekdell
      301 aslektirpd vdqllrqrar vagrlrtdir gplesclrre vdpqlprvvq tllrtveasl
      361 eavrtllaqg mdrlshrlrq spsgtrlrre vysfgempwd lalmqtcyre aersrgrlgq
      421 laapfgflgm qslvfgaqdl aqqlmadava tflqladqcl ttalncdqaa qrlervrgrv
      481 lkelpefegd vlavgsqalt tegiyedvir gcllqridqe lkktlgandv sctldgclev
      541 pweqegaasl aklvnklsgk lwsasepqrd plnpgsdmhl qiltwcqvsw lgdkllptss
      601 acqqshlltg ywqllcclaa asgvgstgip vcswfslqrd fhtpwrpfpp ilsgvfglpq
      661 dneifltfpp islqphlpky icsihlhfig ffsclpftpd gm
//
LOCUS       XP_054177107            1744 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-3(V) chain isoform X1 [Homo sapiens].
ACCESSION   XP_054177107
VERSION     XP_054177107.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321132.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1744
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1744
                     /product="collagen alpha-3(V) chain isoform X1"
                     /calculated_mol_wt=171762
     CDS             1..1744
                     /gene="COL5A3"
                     /coded_by="XM_054321132.1:120..5354"
                     /db_xref="GeneID:50509"
                     /db_xref="HGNC:HGNC:14864"
                     /db_xref="MIM:120216"
ORIGIN      
        1 mgnrrdlgqp raglclllaa lqllpgtqad pvdvlkalgv qggqagvpeg pgfcpqrtpe
       61 gdrafrigqa stlgiptwel fpghfpenfs llitlrgqpa nqsvllsiyd ergarqlgla
      121 lgpalgllgd pfrplpqqvn ltdgrwhrva vsidgemvtl vadceaqppv lghgprfisi
      181 agltvlgtqd lgektfegdi qellispdpq aafqaceryl pdcdnlapaa tvapqgepet
      241 prprrkgkgk grkkgrgrkg kgrkknkeiw tsspppdsae nqtstdipkt etpapnlppt
      301 ptplvvtstv ttglnatile gsldpdsgte lgtletkaar edeegddstm gpdfraaeyp
      361 srtqfqifpg agekgakgep aviekgqqfe gppgapgpqg vvgpsgppgp pgfpgdpgpp
      421 gpaglpgipg idgirgppgt vimmpfqfag gsfkgppvsf qqaqaqavlq qtqlsmkgpp
      481 gpvgltgrpg pvglpghpgl kgeegaegpq gprglqgphg ppgrvgkmgr pgadgarglp
      541 gdtgpkgdrg fdglpglpge kgqrgdfghv gqpgppgedg ergaegppgp tgqagepgpr
      601 gllgprgspg ptgrpgvtgi dgapgakgnv gppgepgppg qqgnhgsqgl pgpqgligtp
      661 gekgppgnpg ipglpgsdgp lghpghegpt gekgaqgppg sagppgypgp rgvkgtsgnr
      721 glqgekgekg edgfpgfkgd vglkgdqgkp gapgprgedg pegpkgqagq ageegppgsa
      781 gekgklgvpg lpgypgrpgp kgsigfpgpl gpigekgksg ktgqpglege rgppgsrger
      841 gqpgatgqpg pkgdvgqdga pgipgekglp glqgppgfpg pkgppghqgk dgrpghpgqr
      901 gelgfqgqtg ppgpagvlgp qgktgevgpl gergppgppg ppgeqglpgl egregakgel
      961 gppgplgkeg paglrgfpgp kggpgdpgpt glkgdkgppg pvgangspge rgplgpaggi
     1021 glpgqsgseg pvgpagkkgs rgergppgpt gkdgipgplg plgppgaagp sgeegdkgdv
     1081 gapghkgskg dkgdagppgq pgirgpaghp gppgadgaqg rrgppglfgq kgddgvrgfv
     1141 gvigppglqg lpgppgekge vgdvgsmgph gapgprgpqg ptgsegtpgl pggvgqpgav
     1201 gekgergdag dpgppgapgi pgpkgdigek gdsgpsgaag ppgkkgppge dgakgsvgpt
     1261 glpgdlgppg dpgvsgidgs pgekgdpgdv ggpgppgasg epgapgppgk rgpsghmgre
     1321 gregekgakg epgpdgppgr tgpmgargpp grvgpeglrg ipgpvgepgl lgapgqmgpp
     1381 gplgpsglpg lkgdtgpkge kghigligli gppgeagekg dqglpgvqgp pgpkgdpgpp
     1441 gpigslghpg ppgvagplgq kgskgspgsm gprgdtgpag ppgppgapae lhglrrrrrf
     1501 vpvplpvveg gleevlaslt slsleleqlr rppgtaerpg lvchelhrnh phlpdgeywi
     1561 dpnqgcards frvfcnftag getclypdkk feivklasws kekpggwyst frrgkkfsyv
     1621 dadgspvnvv qlnflkllsa tarqnftysc qnaaawldea tgdyshsarf lgtngeelsf
     1681 nqttaatvsv pqdgcrlrkg qtktlfefss sragflplwd vaatdfgqtn qkfgfelgpv
     1741 cfss
//
LOCUS       XP_054177794            1645 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription activator BRG1 isoform X4 [Homo sapiens].
ACCESSION   XP_054177794
VERSION     XP_054177794.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321819.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1645
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1645
                     /product="transcription activator BRG1 isoform X4"
                     /calculated_mol_wt=184634
     CDS             1..1645
                     /gene="SMARCA4"
                     /gene_synonym="BAF190; BAF190A; BRG1; CSS4; hSNF2b; MRD16;
                     RTPS2; SNF2; SNF2L4; SNF2LB; SWI2"
                     /coded_by="XM_054321819.1:177..5114"
                     /db_xref="GeneID:6597"
                     /db_xref="HGNC:HGNC:11100"
                     /db_xref="MIM:603254"
ORIGIN      
        1 mstpdpplgg tprpgpspgp gpspgamlgp spgpspgsah smmgpspgpp saghpiptqg
       61 pggypqdnmh qmhkpmesmh ekgmsddpry nqmkgmgmrs gghagmgppp spmdqhsqgy
      121 psplggseha sspvpasgps sgpqmssgpg gapldgadpq algqqnrgpt pfnqnqlhql
      181 raqimaykml argqplpdhl qmavqgkrpm pgmqqqmptl pppsvsatgp gpgpgpgpgp
      241 gpgpappnys rphgmggpnm pppgpsgvpp gmpgqppggp pkpwpegpma naaaptstpq
      301 klippqptgr pspappavpp aaspvmppqt qspgqpaqpa pmvplhqkqs ritpiqkprg
      361 ldpveilqer eyrlqariah riqelenlpg slagdlrtka tielkalrll nfqrqlrqev
      421 vvcmrrdtal etalnakayk rskrqslrea riteklekqq kieqerkrrq khqeylnsil
      481 qhakdfkeyh rsvtgkiqkl tkavatyhan tereqkkene riekermrrl maedeegyrk
      541 lidqkkdkrl ayllqqtdey vanltelvrq hkaaqvakek kkkkkkkkae naegqtpaig
      601 pdgepldets qmsdlpvkvi hvesgkiltg tdapkagqle awlemnpgye vaprsdsees
      661 gseeeeeeee eeqpqaaqpp tlpveekkki pdpdsddvse vdarhiiena kqdvddeygv
      721 sqalarglqs yyavahavte rvdkqsalmv ngvlkqyqik glewlvslyn nnlngilade
      781 mglgktiqti alitylmehk ringpfliiv plstlsnway efdkwapsvv kvsykgspaa
      841 rrafvpqlrs gkfnvlltty eyiikdkhil akirwkymiv deghrmknhh ckltqvlnth
      901 yvaprrlllt gtplqnklpe lwallnfllp tifkscstfe qwfnapfamt gekvdlneee
      961 tiliirrlhk vlrpfllrrl kkeveaqlpe kveyvikcdm salqrvlyrh mqakgvlltd
     1021 gsekdkkgkg gtktlmntim qlrkicnhpy mfqhieesfs ehlgftggiv qgldlyrasg
     1081 kfelldrilp klratnhkvl lfcqmtslmt imedyfayrg fkylrldgtt kaedrgmllk
     1141 tfnepgseyf ifllstragg lglnlqsadt viifdsdwnp hqdlqaqdra hrigqqnevr
     1201 vlrlctvnsv eekilaaaky klnvdqkviq agmfdqksss herraflqai leheeqdeee
     1261 devpddetvn qmiarheeef dlfmrmdldr rreearnpkr kprlmeedel pswiikddae
     1321 verltceeee ekmfgrgsrh rkevdysdsl tekqwlkkit gkdihdtass varglqfqrg
     1381 lqfctraska ieegtleeie eevrqkkssr krkrdsdags stpttstrsr dkddeskkqk
     1441 krgrppaekl spnppnltkk mkkivdavik ykdssgrqls evfiqlpsrk elpeyyelir
     1501 kpvdfkkike rirnhkyrsl ndlekdvmll cqnaqtfnle gsliyedsiv lqsvftsvrq
     1561 kiekeddseg eeseeeeege eegsesesrs vkvkiklgrk ekaqdrlkgg rrrpsrgsra
     1621 kpvvsdddse eeqeedrsgs gseed
//
LOCUS       XP_054197232             240 aa            linear   PRI 20-MAR-2023
DEFINITION  V-type proton ATPase subunit C 2 isoform X9 [Homo sapiens].
ACCESSION   XP_054197232
VERSION     XP_054197232.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341257.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..240
                     /product="V-type proton ATPase subunit C 2 isoform X9"
                     /calculated_mol_wt=26777
     CDS             1..240
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /coded_by="XM_054341257.1:50..772"
                     /db_xref="GeneID:245973"
                     /db_xref="HGNC:HGNC:18264"
                     /db_xref="MIM:618070"
ORIGIN      
        1 msefwlisap gdkenlqale rmntvtsksn lsyntkfaip dfkvgtldsl vglsdelgkl
       61 dtfaeslirr maqsvvevme dskgkvqehl langglkgkm kclkidltsf vthfewdmak
      121 ypvkqplvsv vdtiakqlaq iemdlksrta ayntlktnle nlekksmgnl ftrtlsdivs
      181 kedfvldsey lvtllvivpk pnysqwqkty eslsdmvvpr stnpqllpwt pgaghqargl
//
LOCUS       XP_054197264             594 aa            linear   PRI 20-MAR-2023
DEFINITION  glutamate decarboxylase 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054197264
VERSION     XP_054197264.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341289.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..594
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..594
                     /product="glutamate decarboxylase 1 isoform X1"
                     /calculated_mol_wt=66766
     CDS             1..594
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /coded_by="XM_054341289.1:277..2061"
                     /db_xref="GeneID:2571"
                     /db_xref="HGNC:HGNC:4092"
                     /db_xref="MIM:605363"
ORIGIN      
        1 masstpsssa tssnagadpn ttnlrpttyd twcgvahgct rklglkicgf lqrtnsleek
       61 srlvsafker qssknllsce nsdrdarfrr tetdfsnlfa rdllpaknge eqtvqfllev
      121 vdillnyvrk tfdrstkvld fhhphqlleg megfnlelsd hpesleqilv dcrdtlkygv
      181 rtghprffnq lstgldiigl agewltstan tnmftyeiap vfvlmeqitl kkmreivgws
      241 skdgdgifsp ggaisnmysi maarykyfpe vktkgmaavp klvlftseqs hysikkagaa
      301 lgfgtdnvil ikcnergkii padfeakile akqkgyvpfy vnatagttvy gafdpiqeia
      361 dicekynlwl hvdaawgggl lmsrkhrhkl ngieransvt wnphkmmgvl lqcsailvke
      421 kgilqgcnqm cagylfqpdk qydvsydtgd kaiqcgrhvd ifkfwlmwka kgtvgfenqi
      481 nkclelaeyl yakiknreef emvfngepeh tnvcfwyipq slrgvpdspq rreklhkvap
      541 kikalmmesg ttmvgyqpqg dkanffrmvi snpaatqsdi dflieeierl gqdl
//
LOCUS       XP_054197414             248 aa            linear   PRI 20-MAR-2023
DEFINITION  SH2 domain-containing protein 6 isoform X13 [Homo sapiens].
ACCESSION   XP_054197414
VERSION     XP_054197414.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341439.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..248
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..248
                     /product="SH2 domain-containing protein 6 isoform X13"
                     /calculated_mol_wt=26592
     CDS             1..248
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /coded_by="XM_054341439.1:1982..2728"
                     /db_xref="GeneID:284948"
                     /db_xref="HGNC:HGNC:30439"
ORIGIN      
        1 mlpalpsclp qglgdtrslw ppgsikaiat pasahheqga ssrvvpgppk kpdedlylec
       61 epdpvlaltq tlsfqvlmps gplprtsvvp rpttapqetr ngtadaaske grksslpsva
      121 ptgsasaaed sdlltqpwys gncdryaves allhlqkdga ytvrpssgph gsqpftlavl
      181 lrgrvfnipi rrldggrhya lgregrnree lfssvaamvq hfmwhplplv drhsgsrelt
      241 cllfptkp
//
LOCUS       XP_054198226            7067 aa            linear   PRI 20-MAR-2023
DEFINITION  nebulin isoform X43 [Homo sapiens].
ACCESSION   XP_054198226
VERSION     XP_054198226.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342251.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7067
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..7067
                     /product="nebulin isoform X43"
                     /calculated_mol_wt=816972
     CDS             1..7067
                     /gene="NEB"
                     /gene_synonym="AMC6; NEB177D; NEM2"
                     /coded_by="XM_054342251.1:193..21396"
                     /db_xref="GeneID:4703"
                     /db_xref="HGNC:HGNC:7720"
                     /db_xref="MIM:161650"
ORIGIN      
        1 maddedyeev veyyteevvy eevpgetitk iyettttrts dyeqsetskp alaqpalaqp
       61 asakpverrk virkkvdpsk fmtpyiahsq kmqdlfspnk ykekfektkg qpyasttdtp
      121 elrrikkvqd qlsevkyrmd gdvaktichv dekakdieha kkvsqqvskv lykqnwedtk
      181 dkyllppdap elvqavknta mfskklyted weadkslfyp yndspelrrv aqaqkalsdv
      241 aykkglaeqq aqftpladpp diefakkvtn qvskqkyked yenkikgkws etpcfevana
      301 rmnadnistr kyqedfenmk dqiyfmqtet peykmnkkag vaaskvkyke dyeknkgkad
      361 ynvlpasenp qlrqlkaagd alsdklyken yektkaksin ycetpkfkld tvlqnfssdk
      421 kykdsylkdi lghyvgsfed pyhshcmkvt aqnsdknyka eyeedrgkgf fpqtitqeye
      481 aikkldqckd htykvhpdkt kftqvtdspv llqaqvnskq lsdlnykakh esekfkchip
      541 pdtpafiqhk vnaynlsdnl ykqdwekska kkfdikvdai pllaakantk ntsdvmykkd
      601 yeknkgkmig vlsinddpkm lhslkvaknq sdrlykenye ktkaksmnyc etpkyqldtq
      661 lknfsearyk dlyvkdvlgh yvgsmedpyh thcmkvaaqn sdksykaeye edkgkcyfpq
      721 titqeyeaik kldqckdhty kvhpdktkft avtdspvllq aqlntkqlsd lnykakhege
      781 kfkchipada pqfiqhrvna ynlsdnvykq dwekskakkf dikvdaipll aakantknts
      841 dvmykkdyek skgkmigals inddpkmlhs lktaknqsdr eyrkdyeksk tiytapldml
      901 qvtqakksqa iasdvdykhi lhsysyppds invdlakkay alqsdveyka dynswmkgcg
      961 wvpfgsleme kakrasdiln ekkyrqhpdt lkftsiedap itvqskinqa qrsdiaykak
     1021 geeiihkynl ppdlpqfiqa kvnaynisen mykadlkdls kkgydlrtda ipiraakaar
     1081 qaasdvqykk dyekakgkmv gfqslqddpk lvhymnvaki qsdreykkdy ektkskyntp
     1141 hdmfnvvaak kaqdvvsnvn ykhslhhyty lpdamdlels knmmqiqsdn vykedynnwm
     1201 kgigwipigs ldvekvkkag dalnekkyrq hpdtlkftsi vdspvmvqak qntkqvsdil
     1261 ykakgedvkh kytmspdlpq flqakcnayn isdvcykrdw hdliakgnnv lgdaipitaa
     1321 kasrniasdy kykeayeksk gkhvgfrslq ddpklvhymn vaklqsdrey kknyentkts
     1381 yhtpgdmvsi taakmaqdva tnvnykqplh hytylpdams lehtrnvnqi qsdnvykdey
     1441 nsflkgigwi pigslevekv kkagdalner kyrqhpdtvk ftsvpdsmgm mlaqhntkql
     1501 sdlnykvege klkhkytidp elpqfiqakv nalnmsdahy kadwkktiak gydlrpdaip
     1561 ivaakssrni asdckykeay ekakgkqvgf lslqddpklv hymnvakiqs dreykkgyea
     1621 sktkyhtpld mvsvtaakks qevatnanyr qsyhhytllp dalnvehsrn amqiqsdnly
     1681 ksdftnwmkg igwvpiesle vekakkagei lsekkyrqhp eklkftyamd tmeqalnksn
     1741 klnmdkrlyt ekwnkdktti hvmpdtpdil lsrvnqitms dklykagwee ekkkgydlrp
     1801 daiaikaara srdiasdyky kkayeqakgk higfrsledd pklvhfmqva kmqsdreykk
     1861 gyeksktsfh tpvdmlsvva akksqevatn anyrnvihty nmlpdamsfe laknmmqiqs
     1921 dnqykadyad fmkgigwlpl gsleaeknkk ameiisekky rqhpdtlkys tlmdsmnmvl
     1981 aqnnakimne hlykqawead ktkvhimpdi pqiilakana inmsdklykl sleeskkkgy
     2041 dlrpdaipik aakasrdias dykykynyek gkgkmvgfrs leddpklvhs mqvakmqsdr
     2101 eykknyentk tsyhtpadml svtaakdaqa nitntnykhl ihkyillpda mnieltrnmn
     2161 riqsdneykq dynewykglg wspagsleve kakkateyas dqkyrqhpsn fqfkkltdsm
     2221 dmvlakqnah tmnkhlytid wnkdktkihv mpdtpdilqa kqnqtlysqk lyklaleesk
     2281 kegydlrlda ipiqaakasr diasdykyke gyrkqlghhi garnikddpk mmwsihvaki
     2341 qsdreykkef ekwktkfssp vdmlgvvlak kcqilvsdid ykhplhewtc lpdqndviqa
     2401 rkaydlqsda iyksdlewlr gigwvpigsv evekvkrage ilsdrkyrqp adqlkftcit
     2461 dtpeivlakn naltmskhly teawdadkts ihvmpdtpdi llaksnsani sqklytkgwd
     2521 eskmkdydlr adaisiksak asrdiasdyk ykeayekqkg hhigaqsied dpkimcaiha
     2581 gkiqsereyk kefqkwktkf sspvdmlsil lakkcqtlvt didyrnylhe wtcmpdqndi
     2641 iqakkaydlq sdsvykadle wlrgigwmpe gsvemnrvkv aqdlvnerly rtrpealsft
     2701 sivdtpevvl akanslqise klyqeawnkd ksnitipsdt pemlqahina lqisnklyqk
     2761 dwndtkqkgy diradaieik hakasreias eykykegyrk qlghhmgfrt lqddpksvwa
     2821 ihaakiqsdr eykkayeksk gihntpldmm sivqakkcqv lvsdidyrny lhqwtclpdq
     2881 ndviqakkay dlqsdnlyks dlewlkgigw lpegsvevmr vknaqnllne rlyrikpeal
     2941 kftsivdtpe viqakinavq iseplyrdaw ekekanvnvp adtplmlqsk inalqisnkr
     3001 yqqawedvkm tgydlradai giqhakasrd iasdylykta yekqkghyig crsakedpkl
     3061 vwaanvlkmq ndrlykkayn dhkakisipv dmvsisaake gqalasdvdy rhylhhwscf
     3121 pdqndviqar kaydlqsdsv ykadlewlrg igwmpegsve mnrvkvaqdl vnerlyrtrp
     3181 ealsftsivd tpevvlakan slqiseklyq eawnkdksni tipsdtpeml qahinalqis
     3241 nklyqkdwnd tkqkgydira daieikhaka sreiaseyky kegyrkqlgh hmgfrtlqdd
     3301 pksvwaihaa kiqsdreykk ayekskgihn tpldmmsivq akkcqvlvsd idyrnylhqw
     3361 tclpdqndvi qakkaydlqs dnlyksdlew lkgigwlpeg svevmrvkna qnllnerlyr
     3421 ikpealkfts ivdtpeviqa kinavqisep lyrnawekek anvnvpadtp lmlqskinal
     3481 qisnkryqqa wedvkmtgyd lradaigiqh akasrdiasd ylyktayekq kghyigcrsa
     3541 kedpklvwaa nvlkmqndrl ykkayndhka kisipvdmvs isaakegqal asdvdyrhyl
     3601 hhwscfpdqn dviqarkayd lqsdsvykad lewlrgigwm pegsvemnrv kvaqdlvner
     3661 lyrtrpeals ftsivdtpev vlakanslqi seklyqeawn kdksnitips dtpemlqahi
     3721 nalqisnkly qkdwndtkqk gydiradaie ikhakasrei aseykykegy rkqlghhmgf
     3781 rtlqddpksv waihaakiqs dreykkayek skgihntpld mmsivqakkc qvlvsdidyr
     3841 nylhqwtclp dqndviqakk aydlqsdnly ksdlewlkgi gwlpegsvev mrvknaqnll
     3901 nerlyrikpe alkftsivdt peviqakina vqiseplyrd awekekanvn vpadtplmlq
     3961 skinalqisn kryqqawedv kmtgydlrad aigiqhakas rdiasdylyk tayekqkghy
     4021 igcrsakedp klvwaanvlk mqndrlykka yndhkakisi pvdmvsisaa kegqalasdv
     4081 dyrhylhrws cfpdqndviq arkaydlqsd alykadlewl rgigwmpqgs pevlrvknaq
     4141 nifcdsvyrt pvvnlkytsi vdtpevvlak snaenisipk yrevwdkdkt sihimpdtpe
     4201 inlaranaln vsnklyregw demkagcdvr ldaipiqaak asreiasdyk ykldhekqkg
     4261 hyvgtltard dnkirwalia dklqnereyr ldwakwkaki qspvdmlsil hsknsqalvs
     4321 dmdyrnylhq wtcmpdqndv iqakkayelq sdnvykadle wlrgigwmpn dsvsvnhakh
     4381 aadifsekky rtkietlnft pvddrvdyvt akqsgeildd ikyrkdwnat kskytltetp
     4441 llhtaqeaar ildqylykeg werqkatgyi lppdavpfvh ahhcndvqse lkykaehvkq
     4501 kghyvgvptm rddpklvwfe hagqiqnerl ykedyhktka kinipadmvs vlaakqgqtl
     4561 vsdidyrnyl hqwmchpdqn dviqarkayd lqsdnvyrad lewlrgigwi pldsvdhvrv
     4621 tknqemmsqi kykknaleny pnftsvvdpp eivlakinsv nqsdvkyket fnkakgkytf
     4681 spdtphishs kdmgklysti lykgawegtk aygytldery ipivgakhad lvnselkyke
     4741 tyekqkghyl agkvigefpg vvhcldfqkm rsalnyrkhy edtkanvhip ndmmnhvlak
     4801 rcqyilsdle yrhyfhqwts lleepnvirv rnaqeilsdn vykddlnwlk gigcyvwdtp
     4861 qilhakksyd lqsqlqytaa gkenlqnynl vtdtplyvta vqsginasev kykenyhqik
     4921 dkyttvletv dydrtrnlkn lyssnlykea wdrvkatsyi lpsstlslth aknqkhlash
     4981 ikyreeyekf kalytlprsv dddpntarcl rvgklnidrl yrsvyeknkm kihivpdmve
     5041 mvtakdsqkk vseidyrlrl hewichpdlq vndhvrkvtd qisdivykdd lnwlkgigcy
     5101 vwdtpeilha khaydlrddi kykahmlktr ndyklvtdtp vyvqavksgk qlsdavyhyd
     5161 yvhsvrgkva pttktvdldr alhayklqss nlyktslrtl ptgyrlpgdt phfkhikdtr
     5221 ymssyfkyke ayehtkaygy tlgpkdvpfv hvrrvnnvts erlyrelyhk lkdkihttpd
     5281 tpeirqvkkt qeavseliyk sdffkmqghm islpytpqvi hcryvgdits dikykedlqv
     5341 lkgfgcflyd tpdmvrsrhl rklwsnylyt dkarkmrdky kvvldtpeyr kvqelkthls
     5401 elvyraagkk qksiftsvpd tpdllrakrg qklqsqylyv elatkerphh hagnqttalk
     5461 hakdvkdmvs ekkykiqyek mkdkytpvpd tpilirakra ywnasdlryk etfqktkgky
     5521 htvkdaldiv yhrkvtddis kikykenyms qlgiwrsipd rpehfhhrav tdtvsdvkyk
     5581 edltwlkgig cyaydtpdft laeknktlys kykykevfer tksdfkyvad spinrhfkya
     5641 tqlmnerkyk ssakmflqhg cneilrpdml talynshmws qikyrknyek skdkftsivd
     5701 tpehlrttkv nkqisdilyk leynkakprg yttihdtpml lhvrkvkdev sdlkykevyq
     5761 rnksnctiep davhikaakd aykvntnldy kkqyeankah wkwtpdrpdf lqaaksslqq
     5821 sdfeykldre flkgcklsvt ddkntvlalr ntliesdlky kekhvkergt chavpdtpqi
     5881 llaktvsnlv senkykdhvk khlaqgsytt lpetrdtvhv kevtkhvsdt nykkkfvkek
     5941 gksnysimle ppevkhamev akkqsdvayr kdakenlhyt tvadrpdikk atqaakqase
     6001 veyrakhrke gshglsmlgr pdiemakkaa klssqvkyre nfdkekgktp kynpkdsqly
     6061 kvmkdannla sevkykadlk klhkpvtdmk eslimnhvln tsqlassyqy kkkyekskgh
     6121 yhtipdnleq lhlkeatelq sivkykekye kergkpmldf etptyitake sqqmqsgkey
     6181 rkdyeesikg rnltglevtp allhvkyatk iasekeyrkd leesirgkgl temedtpdml
     6241 raknatqiln ekeykrdlel evkgrglnam anetpdfmra rnatdiasqi kykqsaemek
     6301 anftsvvdtp eiihaqqvkn lssqkkyked aeksmsyyet vldtpeiqrv renqknfsll
     6361 qyqcdlknsk gkitvvqdtp eilrvkenqk nfssvlyked vspgtaigkt pemmrvkqtq
     6421 dhissvkyke aigqgtpipd lpevkrvket qkhissvmyk enlgtgiptt vtpeiervkr
     6481 nqenfssvly kenlgkgipt pitpemervk rnqenfssil ykenlskgtp lpvtpemerv
     6541 klnqenfssv lykenvgkgi pipitpemer vkhnqenfss vlykenlgtg ipipitpemq
     6601 rvkhnqenls svlykenmgk gtplpvtpem ervkhnqeni ssvlykenmg kgtplpvtpe
     6661 mervkhnqen issvlykenm gkgtplpvtp emervkhnqe nissvlyken vgkatatpvt
     6721 pemqrvkrnq enissvlyke nlgkatptpf tpemervkrn qenfssvlyk enmrkatptp
     6781 vtpemerakr nqenissvly sdsfrkqiqg kaayvldtpe mrrvretqrh istvkyhedf
     6841 ekhkgcftpv vtdpitervk knmqdfsdin yrgiqrkvve meqkrndqdq etitglrvwr
     6901 tnpgsvfdyd paedniqsrs lhminvqaqr rsreqsrsas alsvsggeek sehseapdhh
     6961 lstysdggvf avstaykhak ttelpqqrss svatqqttvs sipshpstag kiframydym
     7021 aadadevsfk dgdaiinvqa idegwmygtv qrtgrtgmlp anyveai
//
LOCUS       XP_054198263             700 aa            linear   PRI 20-MAR-2023
DEFINITION  neuronal PAS domain-containing protein 2 isoform X11 [Homo
            sapiens].
ACCESSION   XP_054198263
VERSION     XP_054198263.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342288.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..700
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..700
                     /product="neuronal PAS domain-containing protein 2 isoform
                     X11"
                     /calculated_mol_wt=77563
     CDS             1..700
                     /gene="NPAS2"
                     /gene_synonym="bHLHe9; MOP4; PASD4"
                     /coded_by="XM_054342288.1:306..2408"
                     /db_xref="GeneID:4862"
                     /db_xref="HGNC:HGNC:7895"
                     /db_xref="MIM:603347"
ORIGIN      
        1 mdqnllnflp eqehsevyki lsshmlvtds pspeylksds dlefychllr gslnpkefpt
       61 yeyikfvgnf rsynnvpsps cngfdntlsr pcrvplgkev cfiatvrlat pqflkemciv
      121 depleeftsr hslewkflfl dhrappiigy lpfevlgtsg ydyyhiddle llarchqhlm
      181 qfgkgksccy rfltkgqqwi wlqthyyity hqwnskpefi vcthsvvsya dvrverrqel
      241 aledppseal hssalkdkgs sleprqhfnt ldvgasglnt shspsassrs shksshtams
      301 eptstptklm aeastpalpr satlpqelpv pglsqaatmp aplpspsscd ltqqllpqtv
      361 lqstpapmaq fsaqfsmfqt ikdqleqrtr ilqanirwqq eelhkiqeql clvqdsnvqm
      421 flqqpavsls fsstqrpeaq qqlqqrsaav tqpqlgagpq lpgqissaqv tsqhllress
      481 vistqgpkpm rssqlmqssg rsgsslvspf ssataalpps lnlttpasts qdasqcqpsp
      541 dfshdrqlrl llsqpiqpmm pgscdarqps evsrtgrqvk yaqsqtvfqn pdahpansss
      601 apmpvllmgq avlhpsfpas qpsplqpaqa rqqppqhylq vqaptslhse qqdslllsty
      661 sqqpgtlgyp qpppaqpqpl rpprrvssls essglqqppr
//
LOCUS       XP_054199185            1341 aa            linear   PRI 20-MAR-2023
DEFINITION  alsin isoform X4 [Homo sapiens].
ACCESSION   XP_054199185
VERSION     XP_054199185.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343210.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1341
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1341
                     /product="alsin isoform X4"
                     /calculated_mol_wt=147444
     CDS             1..1341
                     /gene="ALS2"
                     /gene_synonym="ALS2CR6; ALSJ; IAHSP; PLSJ"
                     /coded_by="XM_054343210.1:118..4143"
                     /db_xref="GeneID:57679"
                     /db_xref="HGNC:HGNC:443"
                     /db_xref="MIM:606352"
ORIGIN      
        1 mdskkrsste aegskerglv hiwqagsfpi tperlpgwgg ktvlqaalgv khgvlltedg
       61 evysfgtlpw rsgpveicps spilenalvg qyvitvatgs fhsgavtdng vaymwgensa
      121 gqcavanqqy vpepnpvsia dseaspllav rilqlacgee htlalsisre iwawgtgcql
      181 glittafpvt kpqkvehlag rvvlqvacga fhslalvqcl psqdlkpvpe rcnqcsqlli
      241 tmtdkedhvi isdshccplg vtltesqaen hastalspst etldrqeevf entlvandqs
      301 vatelnavsa qitssdamss qqnvmgttei ssarnipsyp dtqavneylr klsdhsvred
      361 sehgekpmps qplleeaipn lhsppttsts alnslvvsca savgvrvaat yeagalslkk
      421 vmnfysttpc etgaqagssa igpeglkdsr eeqvkqesmq gkkssslvdi reeeteggsr
      481 rlslpgllsq vsprllrkaa rvktrtvvlt ptysgeadal lpslrtevwt wgkgkegqlg
      541 hgdvlprlqp lcvkcldgke vihleaggyh slaltaksqv yswgsntfgq lghsdfpttv
      601 prlakissen gvwsiaagrd yslflvdted fqpglyysgr qdptegdnlp enhsgsktpv
      661 llscsklgyi srvtagkdsy lalvdknimg yiaslhelat terrfyskls diksqilrpl
      721 lslenlgttt tvqllqevas rfsklcylig qhgaslssfl hgvkearslv ilkhsslfld
      781 syteyctsit nflvmggfql lakpaidfln knqellqdls evndentqlm eilntlfflp
      841 irrlhnyakv llklatcfev aspeyqklqd ssscyeclal hlgrkrkeae ytlgfwktfp
      901 gkmtdslrkp errllcessn ralslqhagr fsvnwfilfn dalvhaqfst hhvfplatlw
      961 aeplseeagg vnglkittpe eqftlisstp qektkwlrai sqavdqalrg msdlppygsg
     1021 ssvqrqeppi srsakytfyk dprlkdatyd grwlsgkphg rgvlkwpdgk mysgmfrngl
     1081 edgygeyrip nkamnkedhy vghwkegkmc gqgvysyasg evfegcfqdn mrhghgllrs
     1141 gkltssspsm figqwvmdkk agygvfddit rgekymgmwq ddvcqgngvv vtqfglyyeg
     1201 nfhlnkmmgn gvllseddti yegefsddwt lsgkgtltmp ngdyiegyfs gewgsgikit
     1261 gtyfkpslye sdkdrpkvlk lgnlavpade kwkavfdecw rqlgcegpgq gevwkawdni
     1321 avalttsrrq hrdslqdllw q
//
LOCUS       XP_054200065             323 aa            linear   PRI 20-MAR-2023
DEFINITION  CYFIP-related Rac1 interactor A isoform X1 [Homo sapiens].
ACCESSION   XP_054200065
VERSION     XP_054200065.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344090.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..323
                     /product="CYFIP-related Rac1 interactor A isoform X1"
                     /calculated_mol_wt=37182
     CDS             1..323
                     /gene="CYRIA"
                     /gene_synonym="CYRI-A; FAM49A"
                     /coded_by="XM_054344090.1:403..1374"
                     /db_xref="GeneID:81553"
                     /db_xref="HGNC:HGNC:25373"
ORIGIN      
        1 mgnllkvltr eienyphffl dfenaqpteg ereiwnqisa vlqdsesila dlqaykgagp
       61 eirdaiqnpn diqlqekawn avcplvvrlk rfyefsirle kalqsllesl tcppytptqh
      121 lereqalake faeilhftlr fdelkmrnpa iqndfsyyrr tisrnrinnm hldienevnn
      181 emanrmslfy aeatpmlktl snatmhfvse nktlpientt dclstmtsvc kvmletpeyr
      241 srftseetlm fcmrvmvgvi ilydhvhpvg afcktskidm kgcikvlkeq apdsveglln
      301 alrfttkhln destskqira mlq
//
LOCUS       XP_054200544             319 aa            linear   PRI 20-MAR-2023
DEFINITION  G-protein coupled receptor 55 isoform X1 [Homo sapiens].
ACCESSION   XP_054200544
VERSION     XP_054200544.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344569.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..319
                     /product="G-protein coupled receptor 55 isoform X1"
                     /calculated_mol_wt=36507
     CDS             1..319
                     /gene="GPR55"
                     /gene_synonym="LPIR1"
                     /coded_by="XM_054344569.1:211..1170"
                     /db_xref="GeneID:9290"
                     /db_xref="HGNC:HGNC:4511"
                     /db_xref="MIM:604107"
ORIGIN      
        1 msqqntsgdc lfdgvnelmk tlqfavhipt fvlglllnll aihgfstflk nrwpdyaats
       61 iyminlavfd lllvlslpfk mvlsqvqspf pslctlvecl yfvsmygsvf ticfismdrf
      121 lairypllvs hlrsprkifg icctiwvlvw tgsipiysfh gkvekymcfh nmsddtwsak
      181 vffplevfgf llpmgimgfc csrsihillg rrdhtqdwvq qkaciysiaa slavfvvsfl
      241 pvhlgfflqf lvrnsfivec rakqsisffl qlsmcfsnvn ccldvfcyyf vikefrmnir
      301 ahrpsrvqlv lqdttisrg
//
LOCUS       XP_054200554            2068 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIP12 isoform X1 [Homo sapiens].
ACCESSION   XP_054200554
VERSION     XP_054200554.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344579.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2068
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2068
                     /product="E3 ubiquitin-protein ligase TRIP12 isoform X1"
                     /calculated_mol_wt=228454
     CDS             1..2068
                     /gene="TRIP12"
                     /gene_synonym="MRD49; TRIP-12; TRIPC; ULF"
                     /coded_by="XM_054344579.1:276..6482"
                     /db_xref="GeneID:9320"
                     /db_xref="HGNC:HGNC:12306"
                     /db_xref="MIM:604506"
ORIGIN      
        1 msnrpnnnpg gslrrsqrnt agaqpqddsi ggrshlgqak hkgysppesr ksnskapkvq
       61 snttselsrg hlskrscsss savivpqped pdrantserq ktgqvpkkdn srgvkrsasp
      121 dynrtnspss akkpkalqht espsetnkph skskkrhldq eqqlksaqsp stskahtrks
      181 gatggsrsqk rkrtesscvk sgsgsestga eersakptkl asksatsaka gcstitdsss
      241 aastsssssa vasasstvpp garvkqgkdq nkarrsrsas spsprrssre keqsktggss
      301 kfdwaarfsp kvslpktkls lpgssksets kpgpsglqak laslrkstkk rsesppaelp
      361 slrrstrqkt tgscastsrr gsglgkrgaa earrqekmad pesnqeavns saartdeapq
      421 gaaasssvag avgmttsges esddsemgrl qallearglp phlfgplgpr msqlfhrtig
      481 sgasskaqql lqglqasdes qqlqaviemc qllvmgneet lggfpvksvv palitllqme
      541 hnfdimnhac raltymmeal prssavvvda ipvfleklqv iqcidvaeqa ltalemlsrr
      601 hskailqagg ladcllylef fsinaqrnal aiaanccqsi tpdefhfvad slplltqrlt
      661 hqdkksvest clcfarlvdn fqheenllqq vaskdlltnv qqllvvtppi lssgmfimvv
      721 rmfslmcsnc ptlavqlmkq niaetlhfll cgasngscqe qidlvprspq elyeltslic
      781 elmpclpkeg ifavdtmlkk gnaqntdgai wqwrddrglw hpynridsri ievaahqvge
      841 deislstlgr vytidfnsmq qinedtgtar aiqrkpnpla nsntsgyses kkddaraqlm
      901 kedpelaksf iktlfgvlye vysssagpav rhkclrailr iiyfadaell kdvlknhavs
      961 shiasmlssq dlkivvgalq maeilmqklp difsvyfrre gvmhqvkhla eseslltspp
     1021 kactngsgsm gsttsvssgt ataathaaad lgspslqhsr ddsldlspqg rlsdvlkrkr
     1081 lpkrgprrpk yspprdddkv dnqakspttt qspkssflas lnpktwgrls tqsnsnniep
     1141 artaggsgla raaskdtisn nrekikgwik eqahkfvery fssenmdgsn palnvlqrlc
     1201 aateqlnlqv dggaeclvei rsivsesdvs sfeiqhsgfv kqlllyltsk sekdavsrei
     1261 rlkrflhvff ssplpgeepi grvepvgnap llalvhkmnn clsqmeqfpv kvhdfpsgng
     1321 tggsfslnrg sqalkffnth qlkcqlqrhp dcanvkqwkg gpvkidplal vqaierylvv
     1381 rgygrvredd edsdddgsde eideslaaqf lnsgnvrhrl qfyigehllp ynmtvyqavr
     1441 qfsiqaeder estddesnpl gragiwtkth tiwykpvred eesnkdcvgg krgraqtapt
     1501 ktsprnakkh delwhdgvcp svsnplevyl iptppenitf edpsldvill lrvlhaisry
     1561 wyylydnamc keiiptsefi nskltakanr qlqdplvimt gniptwltel gktcpfffpf
     1621 dtrqmlfyvt afdrdramqr lldtnpeinq sdsqdsrvap rldrkkrtvn reellkqaes
     1681 vmqdlgssra mleiqyenev gtglgptlef yalvsqelqr adlglwrgee vtlsnpkgsq
     1741 egtkyiqnlq glfalpfgrt akpahiakvk mkfrflgklm akaimdfrlv dlplglpfyk
     1801 wmlrqetslt shdlfdidpv varsvyhled ivrqkkrleq dksqtkeslq yaletltmng
     1861 csvedlgldf tlpgfpniel kkggkdipvt ihnleeylrl vifwalnegv srqfdsfrdg
     1921 fesvfplshl qyfypeeldq llcgskadtw daktlmeccr pdhgythdsr avkflfeils
     1981 sfdneqqrlf lqfvtgsprl pvggfrslnp pltivrktfe stenpddflp svmtcvnylk
     2041 lpdyssieim reklliaare gqqsfhls
//
LOCUS       XP_054180105            2693 aa            linear   PRI 20-MAR-2023
DEFINITION  chromodomain-helicase-DNA-binding protein 6 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054180105
VERSION     XP_054180105.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324130.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2693
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2693
                     /product="chromodomain-helicase-DNA-binding protein 6
                     isoform X6"
                     /calculated_mol_wt=302677
     CDS             1..2693
                     /gene="CHD6"
                     /gene_synonym="CHD-6; CHD5; RIGB"
                     /coded_by="XM_054324130.1:158..8239"
                     /db_xref="GeneID:84181"
                     /db_xref="HGNC:HGNC:19057"
                     /db_xref="MIM:616114"
ORIGIN      
        1 msdasvnfdy kspspfdcst dqeekiedva shclpqkdly taeeeaatlf prkmtshngm
       61 edsggggtgv kkkrkkkepg dqegaakgsk drepkpkrkr epkepkeprk akepkkakeh
      121 kepkqkdgak karkpreasg tkeakekrsc tdsaartksr kaskeqgptp vekkkkgkrk
      181 settveslel dqgltnpslr speestestd sqkrrsgrqv krrkynedld fkvvdddget
      241 iavlgagrts alsastlawq aeeppeddan iiekilaskt vqevhpgepp fdlelfyvky
      301 rnfsylhckw atmeelekdp riaqkikrfr nkqaqmkhif tepdedlfnp dyvevdrile
      361 vahtkdaetg eevthylvkw cslpyeestw eleedvdpak vkefeslqvl peikhverpa
      421 sdswqkleks reyknsnqlr eyqlegmnwl lfnwynrknc ilademglgk tiqsitflse
      481 iflrgihgpf liiaplstit nwerefrtwt emnaivyhgs qisrqmiqqy emvyrdaqgn
      541 plsgvfkfhv vittfemila dcpelkkihw scviideahr lknrncklle glklmalehk
      601 vlltgtplqn sveelfslln flepsqfpse tafleefgdl kteeqvkklq silkpmmlrr
      661 lkddveknla pkqetiieve ltniqkkyyr aileknfsfl tkganqhnmp nlintmmelr
      721 kccnhpylin gaeekiledf rkthspdapd fqlqamiqaa gklvlidkll pkliagghkv
      781 lifsqmvrcl diledyliqr rytyeridgr vrgnlrqaai drfckpdsdr fvfllctrag
      841 glginltaad tciifdsdwn pqndlqaqar chrigqskav kvyrlitrns yeremfdkas
      901 lklgldkavl qdinrkggtn gvqqlskmev edllrkgayg almdeedegs kfceedidqi
      961 lqrrthtiti qsegkgstfa kasfvasgnr tdislddpnf wqkwakiael dteaknekes
     1021 lvidrprvrk qtkhynsfee delmefseld sdsderptrs rrlndkarry lraecfrvek
     1081 nllifgwgrw kdilthgrfk whlnekdmem icrallvycv khykgdekik sfiwelitpt
     1141 kdgqaqtlqn hsglsapvpr grkgkktknq llipelkdad wlatcnpevv lhddgykkhl
     1201 kqhcnkvllr vrmlyylkae ilgeaaekaf egspareldv plpdidymei pvdwwdaead
     1261 kslligvfkh gyerynamra dpalcflekv gmpdekslsa eqgvtdgtsd ipergntdke
     1321 dnaedkvdgl qkqtesssdg gdgvfsekkd dsraaqdgsd pdkspwpvss altarlrrlv
     1381 tvyqrcnrke lcrpeilgpg nqgywvqeem frrtsemdli nkeaqkrwtr reqadfyrtv
     1441 ssfgvvydqe kktfdwtqfr iisrldkksd esleqyfysf vamcrnvcrl ptwkdggppd
     1501 ttiyvepite eraartlyri ellrkvreqv lkcpqlherl qlcrpslylp vwwecgkhdr
     1561 dlligtakhg lnrtdcyimn dpqlsflday rnyaqhkrsg tqapgnlccl yqtnsklyes
     1621 ltysqmsrts eslenepenl vrvesrddhl slpdvtcenf iskvqdvisi nhdesllpes
     1681 lesmmygkkv lsqepssfqe spstntesrk dvitisiskd gncqsggpea eiasgptfmg
     1741 sleaggvaqa nikngkhllm siskegelcc seagqrpeni gqleakclas pslnpgnesg
     1801 fvdmcslsvc dskrnlssdq qlidllenks lesklilsqn hsdeeeeeee neeenlamav
     1861 gmgerpevlh ltepttnisr eknqgfqdet kkgslevanq tpglqrafpa paacqchckh
     1921 merwmhglen defeiekpka yipdlfkskt ntiamegept aipsqpfkvk hellkepwke
     1981 saegqnvfpt yplegselks edmdfenkdd ydrdgnchsq dypgkyseee sksstsgitg
     2041 digdelqear aptiaqllqe ktlysfsewp kdrviinrld nichvvlkgk wpssqqyeps
     2101 gtlptpvlts sagsrtslse peaaehsfsn gaalaaqihk esflapvftk deqkhrrpye
     2161 feverdakar gleqfsathg htpiilngwh gesamdlscs segspgatsp fpvsastpki
     2221 gaisslqgal gmdlsgilqa glihpvtgqi vngslrrdda atrrrrgrrk hveggmdlif
     2281 lkeqtlqagi levhedpgqa tlstthpegp gpatsapepa taassqaeks ipskslldwl
     2341 rqqadyslev pgfganfsdk pkqrrprcke pgkldvssls geervpaipk epglrgflpe
     2401 nkfnhtlaep ilrdtgprrr grrprsellk apsivadsps gmgplfmngl iagmdlvglq
     2461 nmrnmpgipl tglvgfpagf atmptgeevk stlsmlpmml pgmaavpqmf gvggllsppm
     2521 attctstapa slssttksgt avtektaedk psshdvktdt laedkpgpgp fsdqsepait
     2581 tsspvafnpf lipgvspgli ypsmflspgm gmalpamqqa rhseivgles qkrkkkktkg
     2641 dnpnshpepa pscerepsgd encaepsapl paerehgaqa gegalkdsnn dtn
//
LOCUS       XP_054180140             615 aa            linear   PRI 20-MAR-2023
DEFINITION  breast carcinoma-amplified sequence 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054180140
VERSION     XP_054180140.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324165.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..615
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..615
                     /product="breast carcinoma-amplified sequence 1 isoform
                     X2"
                     /calculated_mol_wt=65141
     CDS             1..615
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /coded_by="XM_054324165.1:168..2015"
                     /db_xref="GeneID:8537"
                     /db_xref="HGNC:HGNC:974"
                     /db_xref="MIM:602968"
ORIGIN      
        1 mgnqmsvpqr vedqenepea etyqdnasal ngvpvvvsth tvqhleevdl gisvktdnva
       61 tsspetteis avadangknl gkeakpeapa aksrfflmls rpvpgrtgdq aadsslgsvk
      121 ldvssnkapa nkdpseswtl pvaagpgqdt dktpghapaq dkvlsaardp tllppetgga
      181 ggeapskpkd ssffdkffkl dkgqekvpgd sqqeakraeh qdkvdevpgl sgqsddvpag
      241 kdivdgkeke gqelgtadcs vpgdpeglet akddsqaaai aennnsimsf fktlvspnka
      301 etkkdpedta skaesvcdgq agqktseiqa rgtkkkhlds prlglafrkf frhkgaeksp
      361 ttsadlksdk anftsqetqg agknskgcnp sghtqsvttp epakegtkek sgptslplgk
      421 lfwkkvvces pveiikskev esalqtvdln egdaapepte aklkreeskp rtslmaflrq
      481 msvkgdggit hseeingkds scqtsdstek titppepept gapqkgkegs skdkksaaem
      541 nkqksnkqea kepaqcteqa tvdtnslqng dklqkrpekr qqslggffkg lgpkrmldaq
      601 vqtdpvsigp vgkpk
//
LOCUS       XP_047302976             348 aa            linear   PRI 20-MAR-2023
DEFINITION  heat shock factor 2-binding protein isoform X1 [Homo sapiens].
ACCESSION   XP_047302976
VERSION     XP_047302976.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047447020.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..348
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..348
                     /product="heat shock factor 2-binding protein isoform X1"
                     /calculated_mol_wt=39127
     Region          17..>118
                     /region_name="PRK12704"
                     /note="phosphodiesterase; Provisional"
                     /db_xref="CDD:237177"
     CDS             1..348
                     /gene="HSF2BP"
                     /gene_synonym="MEILB2; POF19"
                     /coded_by="XM_047447020.1:339..1385"
                     /db_xref="GeneID:11077"
                     /db_xref="HGNC:HGNC:5226"
                     /db_xref="MIM:604554"
ORIGIN      
        1 mgeagaaeea crhmgtkeef vkvrkkdler lttevmqird flprilngev lesfqklkiv
       61 eknlerkeqe leqlkmdceh fkarletvqa dnirekkekl alrqqlneak qqllqqaeyc
      121 temgaaactl lwgvssseev vkailggvsm dkalkffsit gqtmesfvks ldgdvqelds
      181 desqfvfala givtnvaaia cgreflvnss rvlldtilql lgdlkpgqct klkvlmlmsl
      241 ynvsinlkgl kyisespgfi pllwwllsdp daevclhvlr lvqsvvlepe vfsksasefr
      301 sslplqrila msksrnprlq taaqelledl rtlehnvlps frylftlg
//
LOCUS       XP_054180491             862 aa            linear   PRI 20-MAR-2023
DEFINITION  neural cell adhesion molecule 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054180491
VERSION     XP_054180491.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324516.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..862
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..862
                     /product="neural cell adhesion molecule 2 isoform X2"
                     /calculated_mol_wt=96151
     CDS             1..862
                     /gene="NCAM2"
                     /gene_synonym="NCAM21"
                     /coded_by="XM_054324516.1:112..2700"
                     /db_xref="GeneID:4685"
                     /db_xref="HGNC:HGNC:7657"
                     /db_xref="MIM:602040"
ORIGIN      
        1 mvrsdsggqv yldyhnrqgl fvdwkyneal yleegqpety yrtallqvti slskvelsvg
       61 eskfftctai gepesidwyn pqgekiistq rvvvqkegvr srltiynani edagiyrcqa
      121 tdakgqtqea tvvleiyqkl tfrevvspqe fkqgedaevv crvssspapa vswlyhneev
      181 ttisdnrfam lannnlqiln inksdegiyr cegrvearge idfrdiiviv nvppaismpq
      241 ksfnataerg eemtfscras gspepaiswf rngklieene kyilkgsnte ltvrniinsd
      301 ggpyvcratn kagedekqaf lqvfvqphii qlknettyen gqvtlvcdae gepipeitwk
      361 ravdgftfte gdkspdgrie vkgqhgsssl hikdvklsds grydceaasr igghqksmyl
      421 dieyapkfis nqtiyysweg npiniscdvk snppasihwr rdklvlpakn ttnlktystg
      481 rkmileiapt sdndfgrync tatnhigtrf qeyilaladv psspygvkii elsqttakvs
      541 fnkpdshggv pihhyqvdvk evaseiwkiv rshgvqtmvv lnnlepntty eirvaavngk
      601 gqgdyskiei fqtlpvreps ppsihgqpss gksfklsitk qddggapile yivkyrskdk
      661 edqwlekkvq gnkdhiileh lqwtmgyevq itaanrlgys eptvyefsmp pkpniikdtl
      721 fnglglgavi glgvaallli lvvtdvscff irqcgllmci trrmcgkksg ssgkskelee
      781 gkaaylkdgs kepivemrte dervtnhedg spvnepnett pltepeklpl keedgkealn
      841 petieikvsn diiqskedds ka
//
LOCUS       XP_054181291            2250 aa            linear   PRI 20-MAR-2023
DEFINITION  calcineurin-binding protein cabin-1 isoform X2 [Homo sapiens].
ACCESSION   XP_054181291
VERSION     XP_054181291.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325316.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2250
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2250
                     /product="calcineurin-binding protein cabin-1 isoform X2"
                     /calculated_mol_wt=249340
     CDS             1..2250
                     /gene="CABIN1"
                     /gene_synonym="CAIN; KB-318B8.7; PPP3IN"
                     /coded_by="XM_054325316.1:434..7186"
                     /db_xref="GeneID:23523"
                     /db_xref="HGNC:HGNC:24187"
                     /db_xref="MIM:604251"
ORIGIN      
        1 miriaalnas stieddhegs fkshktqtke aqeaeafaly hkaldlqkhd rfeesakayh
       61 elleasllre avssgdekeg lkhpglilky styknlaqla aqredletam efyleavmld
      121 stdvnlwyki ghvalrliri plarhafeeg lrcnpdhwpc ldnlitvlyt lsdyttclyf
      181 ickalekdcr yskglvlkek ifeeqpclrk dslrmflkcd msihdvsvsa aetqaivdea
      241 lglrkkrqal ivrekepdlk lvqpipfftw kclgesllam ynhlttcepp rpslgkridl
      301 sdyqdpsqpl essmvvtpvn viqpstvstn pavavaepvv sytsvattsf plhspgllet
      361 gapvgdisgg dkskkgvkrk kiseesgeta krrsarvrnt kckkeekvdf qellmkflps
      421 rlrkldpeee ddsfnnyevq seaklesfps igpqrlsfds atfmesekqd vhefllenlt
      481 nggilelmmr ylkamghkfl vrwppglaev vlsvyhswrr hstslpnpll rdcsnkhikd
      541 mmlmslscme lqldqwlltk grssavsprn cpagmvngrf gpdfpgthcl gdllqlsfas
      601 sqrdlfedgw lefvvrvywl karflalqgd meqalenydi ctemlqssta iqveagaerr
      661 divirlpnlh ndsvvsleei dknlkslerc qsleeiqrly eagdykavvh llrptlctsg
      721 fdrakhlefm tsiperpaql lllqdsllrl kdyrqcfecs dvalneavqq mvnsgeaaak
      781 eewvatvtql lmgieqalsa dssgsilkvs ssttglvrlt nnliqvidcs mavqeeakep
      841 hvssvlpwii lhriiwqeed tfhslchqqq lqnpaeegms etpmlpsslm llntaheylg
      901 rrswccnsdg allrfyvrvl qkelaastse dthpykeele taleqcfycl ysfpskkska
      961 ryleehsaqq vdliwedalf mfeyfkpktl pefdsyktst vsadlanllk riativprte
     1021 rpalsldkvs ayiegtstev pclpegadps ppvvnelyyl ladyhfknke qskaikfymh
     1081 dicicpnrfd swagmalara sriqdklnsn elksdgpiwk hatpvlncfr raleidssnl
     1141 slwieygtms yalhsfasrq lkqwrgelpp elvqqmegrr dsmletakhc ftsaarcegd
     1201 gdeeewlihy mlgkvaekqq qpptvyllhy rqaghylhee aarypkkihy hnppelamea
     1261 levyfrlhas ilkllgkpds gvgaevlvnf mkeaaegpfa rgeekntpka sekekaclvd
     1321 edshssagtl pgpgaslpss sgpgltsppy tatpidhdyv kckkphqqat pdgtvpvlpt
     1381 aspgrhinhg gvlgrlilsl rfdrsqdsta valsdssstq dffneptsll egsrksytek
     1441 rlpilssqag atgkdlqgat eergkneesl estegfraae qgvqkpaaet pasacipgkp
     1501 sastptlwdg kkrgdlpgep vafpqglpag aeeqrqflte qciasfrlcl srfpqhyksl
     1561 yrlaflytys kthrnlqwar dvllgssipw qqlqhmpaqg lfcernktnf fngiwripvd
     1621 eidrpgsfaw hmnrsivlll kvlaqlrdhs tllkvssmlq rtpdqgkkyl rdadrqvlaq
     1681 rafiltvkvl edtlselaeg serpgpkvcg lpgarmttdv shkaspedgq eglpqpkkpp
     1741 ladgsgpgpe pggkvgllnh rpvamdagds adqsgerkdk espragptep mdtseatvch
     1801 sdlertppll pgrpardrgp esrptelsle elsisarqqp tpltpaqpap apapatttgt
     1861 ragghpeepl srlsrkrkll edtesgktll ldayrvwqqg qkgvaydlgr verimsetym
     1921 likqvdeeaa leqavkfcqv hlgaaaqrqa sgdtpttpkh pkdsrenffp vtvvptapdp
     1981 vpadsvqrps dahtkprpal aaattiitcp psasastldq skdpgpprph rpeatpsmas
     2041 lgpegeelar vaegtsfppq eprhspqvkm aptsspaeph cwpaeaalgt gaeptcsqeg
     2101 klrpeprrdg eaqeaasetq plsspptaas skapssgsaq ppeghpgkpe psraksrplp
     2161 nmpklvipsa atkfppeitv tpptptllsp kgsiseetkq klksailsaq saanvrkesl
     2221 cqpalevlet ssqesslese tdedddymdi
//
LOCUS       XP_054200818             584 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein 6 isoform X8 [Homo sapiens].
ACCESSION   XP_054200818
VERSION     XP_054200818.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344843.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..584
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..584
                     /product="RNA-binding protein 6 isoform X8"
                     /calculated_mol_wt=66353
     CDS             1..584
                     /gene="RBM6"
                     /gene_synonym="3G2; DEF-3; DEF3; g16; HLC-11; NY-LU-12"
                     /coded_by="XM_054344843.1:378..2132"
                     /db_xref="GeneID:10180"
                     /db_xref="HGNC:HGNC:9903"
                     /db_xref="MIM:606886"
ORIGIN      
        1 mwgdsrpanr tgpfrgsqee rfapgwnrdy pppplkshaq erhsgnfpgr dslpfdfqgh
       61 sgppfanvee hsfsygardg phgdyrggeg pghdfrggdf sssdfqsrds sqldfrgrdi
      121 hsgdfrdreg ppmdyrggdg tsmdyrgrea phmnyrdrda havdfrgrda ppsdfrgrgt
      181 ydldfrgrdg shadfrgrdl sdldfrareq srsdfrnrdv sdldfrdkdg tqvdfrgrgs
      241 gttdldfrdr dtphsdfrgr hrsrtdqdfr gremgscmef kdremppvdp nildyiqpst
      301 qdrehsgmnv nrreesthdh tierpafgiq kgefehsetr egetqgvafe hespadfqns
      361 qspvqdqdks qlsgreeqss daglfkeegg ldflgrqdtd yrsmeyrdvd hrlpgsqmfg
      421 ygqsksfpeg ktardaqrdl qdqdyrtgps eekpsrlirl sgvpedatke eilnafrtpd
      481 gmpvknlqlk eyntgydygy vcvefslled aigcmeanqa rlpvpnteqk lvnetgdpsv
      541 ktkgkrkmkq eipslqprwn sndpgqrsyp gvcikpgflv lqtm
//
LOCUS       XP_054201036             936 aa            linear   PRI 20-MAR-2023
DEFINITION  adenylate cyclase type 5 isoform X3 [Homo sapiens].
ACCESSION   XP_054201036
VERSION     XP_054201036.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345061.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..936
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..936
                     /product="adenylate cyclase type 5 isoform X3"
                     /calculated_mol_wt=105437
     CDS             1..936
                     /gene="ADCY5"
                     /gene_synonym="AC5; DSKOD; FDFM"
                     /coded_by="XM_054345061.1:76..2886"
                     /db_xref="GeneID:111"
                     /db_xref="HGNC:HGNC:236"
                     /db_xref="MIM:600293"
ORIGIN      
        1 mksqkegccs rgdlsiqtgp ggewaprrlv snvlifsctn ivgvcthypa evsqrqafqe
       61 treciqarlh sqrenqqqer lllsvlprhv amemkadina kqedmmfhki yiqkhdnvsi
      121 lfadiegfts lasqctaqel vmtlnelfar fdklaaenhc lrikilgdcy ycvsglpear
      181 adhahccvem gmdmieaisl vrevtgvnvn mrvgihsgrv hcgvlglrkw qfdvwsndvt
      241 lanhmeaggk agrihitkat lnylngdyev epgcggerna ylkehsietf lilrctqkrk
      301 eekamiakmn rqrtnsighn pphwgaerpf ynhlggnqvs kemkrmgfed pkdknaqesa
      361 npedevdefl graidarsid rlrsehvrkf lltfrepdle kkyskqvddr fgayvacasl
      421 vflficfvqi tivphsifml sfyltcslll tlvvfvsviy scvklfpspl qtlsrkivrs
      481 kmnstlvgvf titlvflaaf vnmftcnsrd llgclaqehn isasqvnach vaesavnysl
      541 gdeqgfcgsp wpncnfpeyf tysvllslla csvflqisci gklvlmlaie liyvlivevp
      601 gvtlfdnadl lvtanaidff nngtsqwslc enlrhrrmea gtyfpsgvke qspehatkva
      661 lkvvtpiiis vfvlalylha qqvestarld flwklqatee keemeelqay nrrllhnilp
      721 kdvaahflar errndelyyq scecvavmfa sianfsefyv eleannegve clrllneiia
      781 dfdeiisedr frqlekikti gstymaasgl ndstydkvgk thikaladfa mklmdqmkyi
      841 nehsfnnfqm kiglnigpvv agvigarkpq ydiwgntvnv asrmdstgvp driqvttdmy
      901 qvlaantyql ecrgvvkvkg kgemmtyfln ggppls
//
LOCUS       XP_054202076             859 aa            linear   PRI 20-MAR-2023
DEFINITION  rab effector MyRIP isoform X1 [Homo sapiens].
ACCESSION   XP_054202076
VERSION     XP_054202076.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346101.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..859
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..859
                     /product="rab effector MyRIP isoform X1"
                     /calculated_mol_wt=95576
     CDS             1..859
                     /gene="MYRIP"
                     /gene_synonym="SLAC2-C; SLAC2C"
                     /coded_by="XM_054346101.1:802..3381"
                     /db_xref="GeneID:25924"
                     /db_xref="HGNC:HGNC:19156"
                     /db_xref="MIM:611790"
ORIGIN      
        1 mgrkldlsgl tddetehvlq vvqrdfnlrk keeerlselk qkldeegskc silskhqqfv
       61 ehccmrccsp ftflvntkrq cgdckfnvck sccsyqkhek awvccvcqqa rllraqslew
      121 fynnvksrfk rfgsakvlkn lyrkhrlesg acfdilggsl fesnlenegs isgsdstfyr
      181 qseghsvmdt lavalrvaee aieeaiskae aygdsldkqn easylrdhke elteelatti
      241 lqkiirkqks kseqqveeep gwphpqscst kvadegtsas pggyrapaal wrsqsafsit
      301 geealktppv eapsrqprdq gqhpraesal pswksvdrld etnlapvlqs pdgnwvalkd
      361 gappptrlla kpksgtfqal evassvasay demgsdseed fdwsealskl cprsralprn
      421 pqpqptqaqs sdqgpiaasp ssalspnpea mcsdsetssa gssrevghqa rlswlqrkap
      481 rnpaaekmrl hgeldvnfnp qlasretsds sepeeaphtt drrarrwrra rlgseepske
      541 psspsaqlrd ldthqvsddl setdisnear dpqtltdtte ekrrnrlyel amkmsekets
      601 sgedqesepk tesenqkesl ssednsqsvq eelkkkfsav slcnistevl kvinateeli
      661 agstgpwesp qvppdrqkgm fprgtdqvrl deqltsleen vylaagtvyg letqlteled
      721 aarcihsgtd ethladledq vataaaqvhh aelqisdies risaltiagl niapcvrftr
      781 rrdqkqrtqv qtidtsrqqr rklpappvka ekietssvtt iktfnhnfil qgsstnrtke
      841 rkgttkdlme palesavmy
//
LOCUS       XP_054202110             974 aa            linear   PRI 20-MAR-2023
DEFINITION  ERC protein 2 isoform X8 [Homo sapiens].
ACCESSION   XP_054202110
VERSION     XP_054202110.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346135.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..974
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..974
                     /product="ERC protein 2 isoform X8"
                     /calculated_mol_wt=112243
     CDS             1..974
                     /gene="ERC2"
                     /gene_synonym="CAST; CAST1; ELKSL; SPBC110; Spc110"
                     /coded_by="XM_054346135.1:361..3285"
                     /db_xref="GeneID:26059"
                     /db_xref="HGNC:HGNC:31922"
                     /db_xref="MIM:617250"
ORIGIN      
        1 mygsartitn legspsrspr lprsprlghr rtssgggggt gktlsmeniq slnaayatsg
       61 pmylsdhegv asttypkgtm tlgratnrav yggrvtamgs spniasagls htdvlsytdq
      121 hggltgsshh hhhqvpsmlr qvrdstmldl qaqlkelqre ndllrkeldi kdsklgssmn
      181 siktfwspel kkervlrkee aarmsvlkeq mrvsheenqh lqltiqalqd elrtqrdlnh
      241 llqqesgnrg aehftielte enfrrlqaeh drqakelfll rktleemelr ietqkqtlna
      301 rdesikklle mlqskglpsk sleddnertr rmaeaesqvs hlevildqke kenihlreel
      361 hrrsqlqpep aktkalqtvi emkdtkiasl ernirdlede iqmlkangvl ntedreeeik
      421 qievykshsk fmktkidqlk qelskkesel lalqtkletl snqnsdckqh ievlkeslta
      481 keqraailqt evdalrlrle ekesflnkkt kqlqdlteek gtlageirdm kdmlevkerk
      541 invlqkkien lqeqlrdkdk qltnlkdrvk slqtdssntd talatleeal sekeriierl
      601 keqrerddre rleeiesfrk enkdlkekvn alqaelteke sslidlkeha sslasaglkr
      661 dsklksleia ieqkkeecsk leaqlkkahn ieddsrmnpe fadqikqldk easyyrdecg
      721 kaqaevdrll eilkevenek ndkdkkiael esltlrhmkd qnkkvanlkh nqqlekkkna
      781 qlleevrrre dsmadnsqhl qieelmnale ktrqeldatk arlastqqsl aekeahlanl
      841 rierrkqlee ilemkqeall aaisekdani allelsaskk kktqeevmal krekdrlvhq
      901 lkqqvgppar qtqnrmklma dnydddhhhy hhhhhhhhhr spgrsqhsnh rpspdqmiql
      961 crrhvgtaks havh
//
LOCUS       XP_054204544             795 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 5 isoform X2 [Homo sapiens].
ACCESSION   XP_054204544
VERSION     XP_054204544.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348569.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..795
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..795
                     /product="TBC1 domain family member 5 isoform X2"
                     /calculated_mol_wt=88874
     CDS             1..795
                     /gene="TBC1D5"
                     /coded_by="XM_054348569.1:672..3059"
                     /db_xref="GeneID:9779"
                     /db_xref="HGNC:HGNC:19166"
                     /db_xref="MIM:615740"
ORIGIN      
        1 myhslsetrh plqpeeqevg idplssysnk sggdsnkngr rtsstldseg tfnsyrkewe
       61 elfvnnnyla tirqkgingq lrssrfrsic wklflcvlpq dksqwisrie elrawysnik
      121 eihitnprkv vgqqdlminn plsqdegslw nkffqdkelr smieqdvkrt fpemqffqqe
      181 nvrkiltdvl fcyareneql lykqgmhell apivfvlhcd hqaflhases aqpseemktv
      241 lnpeylehda yavfsqlmet aepwfstfeh dgqkgketlm tpipfarpqd lgptiaivtk
      301 vnqiqdhllk khdielymhl nrleiapqiy glrwvrllfg refplqdllv vwdalfadgl
      361 slglvdyifv amllyirdal issnyqtclg llmhypfigd vhslilkalf lrdpkrnprp
      421 vtyqfhpnld yykargadlm nksrtnakga plninkvsns linfgrklis pamapgsagg
      481 pvpggnssss ssvviptrts aeapshhlqq qqqqqrlmks esmpvqlnkg lssknisssp
      541 sveslpggre ftgsppssat kkdsffsnis rsrshsktmg rkeseeelea qisflqgqln
      601 dldamckyca kvmdthlvni qdvilqenle kedqilvsla glkqikdilk gslrfnqsql
      661 eaeeneqiti adnhycssgq gqgrgqgqsv qmsgaikqas setpgctdrg nsddfilisk
      721 dddgssargs fsgqaqplrt lrstsgksqa pvcsplvfsd plmgpasass snpssspddd
      781 sskdsgftiv spldi
//
LOCUS       XP_054205623            1229 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 17 isoform X18 [Homo
            sapiens].
ACCESSION   XP_054205623
VERSION     XP_054205623.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349648.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1229
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1229
                     /product="ankyrin repeat domain-containing protein 17
                     isoform X18"
                     /calculated_mol_wt=128603
     CDS             1..1229
                     /gene="ANKRD17"
                     /gene_synonym="CAGS; GTAR; MASK2; NY-BR-16"
                     /coded_by="XM_054349648.1:131..3820"
                     /db_xref="GeneID:26057"
                     /db_xref="HGNC:HGNC:23575"
                     /db_xref="MIM:615929"
ORIGIN      
        1 mekatvpvaa ataaegegsp pavaavagpp aaaevgggvg gssrarsass prgmvrvcdl
       61 llkkkppqqq hhkakrnrtc rppsssesss dsdnsggggg gggggggggg tssnnseeee
      121 ddddeeeevs evesfildqd dlenpmleta sklllsgtad gadlrtvdpe tqarlealle
      181 aagigklsta dgkafadpev lrrltssvsc aldeaaaalt rmraestana gqsdnrslae
      241 acsegdvnav rklliegrsv nehteegesl lclacsagyy elaqvllamh anvedrgikg
      301 ditplmaaan gghvkivkll lahkadvnaq sstgntalty acaggyvdvv kvllesgasi
      361 edhnenghtp lmeagsaghv evarllleng aginthsnef kesaltlacy kghlemvrfl
      421 leagadqehk tdemhtalme acmdghveva rllldsgaqv nmpadsfesp ltlaacgghv
      481 elaallierg asleevndeg ytplmeaare gheemvalll gqganinaqt eetqetaltl
      541 accggfleva dflikagadi elgcstplme aaqeghlelv kyllaaganv hattatgdta
      601 ltyacenght dvadvllqag adlehesegg rtplmkaara ghvctvqfli skganvnrtt
      661 anndhtvlsl acagghlavv elllahgadp thrlkdgstm lieaakgght svvcylldyp
      721 nnllsapppd vtqltppshd lnraprvpvq alpmvvppqe pdkppanvat tlpirnkavs
      781 grasamsntp thsiaasisq pqtptpspii spsamlpiyp aididaqtes nhdtaltlac
      841 aggheelvqt llergasieh rdkkgftpli laataghvgv veilldngad ieaqsertkd
      901 tplslacsgg rqevvellla rgankehrnv sdytplslaa sggyvniiki llnagaeins
      961 rtgsklgisp lmlaamnght aavkllldmg sdinaqietn rntaltlacf qgrtevvsll
     1021 ldrkanvehr aktgltplme aasggyaevg rvlldkgadv nappvpssrd taltiaadkg
     1081 hykfcellig rgahidvrnk kgntplwlaa ngghldvvql lvqagadvda adnrkitplm
     1141 aafrkghvkv vrylvkevnq fpsdsecmry iatitdkeml kkchlcmesi vqakdrqaae
     1201 anknasille eldlekadyn iipiyshge
//
LOCUS       XP_054206067             387 aa            linear   PRI 20-MAR-2023
DEFINITION  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X4
            [Homo sapiens].
ACCESSION   XP_054206067
VERSION     XP_054206067.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350092.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..387
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..387
                     /product="polypeptide
                     N-acetylgalactosaminyltransferase-like 6 isoform X4"
                     /calculated_mol_wt=44704
     CDS             1..387
                     /gene="GALNTL6"
                     /gene_synonym="GalNAc-T6L; GALNACT20; GALNT17"
                     /coded_by="XM_054350092.1:757..1920"
                     /db_xref="GeneID:442117"
                     /db_xref="HGNC:HGNC:33844"
                     /db_xref="MIM:615138"
ORIGIN      
        1 mkrkqkrflq mtllftvali flpnvglwsl ykdkhlvksa epgeqqtfpl glgdgqfysw
       61 tdglrrkdwh dyesiqkeam rsgkgehgkp yplteedhdd sayrengfni fvsnnialer
      121 slpdirhanc khkmylerlp ntsiiipfhn egwtsllrti hsiinrtpgs liaeiilvdd
      181 fserehlkdk leeymarfsk vrivrtkkre glirtrllga smargevltf ldshcevnvn
      241 wlppllnqia lnhktivcpm idvidhnhfg yeaqagdamr gafdwemyyk ripippelqr
      301 adpsdpfesp vmagglfavd rkwfwelggy dpgleiwgge qyeisfkvwm cggemfdvpc
      361 srvghiyrky vpykvpsgts larkrnr
//
LOCUS       XP_054206522             173 aa            linear   PRI 20-MAR-2023
DEFINITION  dehydrogenase/reductase SDR family member 6 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054206522
VERSION     XP_054206522.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350547.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..173
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..173
                     /product="dehydrogenase/reductase SDR family member 6
                     isoform X4"
                     /calculated_mol_wt=19078
     CDS             1..173
                     /gene="BDH2"
                     /gene_synonym="DHRS6; EFA6R; PRO20933; SDR15C1; UCPA-OR;
                     UNQ6308"
                     /coded_by="XM_054350547.1:73..594"
                     /db_xref="GeneID:56898"
                     /db_xref="HGNC:HGNC:32389"
ORIGIN      
        1 mgrldgkvii ltaaaqgigq aaalafareg akviatdine sklqelekyp giqtrvldvt
       61 kkkqidqfan everldvlfn vagfvhhgtv ldceekdwdf smnlnvrsmy lmikaflpkm
      121 laqksgniin mssvassvkg gsvsfrglrc sythiikssa fgnrhsrdyn fky
//
LOCUS       XP_054208124             842 aa            linear   PRI 20-MAR-2023
DEFINITION  follistatin-related protein 4 isoform X1 [Homo sapiens].
ACCESSION   XP_054208124
VERSION     XP_054208124.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352149.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..842
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..842
                     /product="follistatin-related protein 4 isoform X1"
                     /calculated_mol_wt=92965
     CDS             1..842
                     /gene="FSTL4"
                     /coded_by="XM_054352149.1:127..2655"
                     /db_xref="GeneID:23105"
                     /db_xref="HGNC:HGNC:21389"
ORIGIN      
        1 mkpggfwlhl tllgaslpaa lgwmdpgtsr gpdvgvgesq aeeprsfevt rreglsshne
       61 llascgkkfc srgsrcvlsr ktgepecqcl eacrpsyvpv cgsdgrfyen hcklhraacl
      121 lgkritvihs kdcflkgdtc tmagyarlkn vllalqtrlq plqegdsrqd pasqkrllve
      181 slfrdldadg nghlsssela qhvlkkqdld edllgcspgd llrfddynsd ssltlrefym
      241 afqvvqlsla pedrvsvttv tvglstvltc avhgdlrppi iwkrngltln fldledindf
      301 geddslyitk vttihmgnyt chasgheqlf qthvlqvnvp pvirvypesq aqepgvaasl
      361 rchaegipmp ritwlkngvd vstqmskqls llangselhi ssvryedtga ytciaknevg
      421 vdedisslfi edsarktlan ilwreeglsv gnmfyvfsdd giivihpvdc eiqrhlkpte
      481 kifmsyeeic pqreknatqp cqwvsavnvr nryiyvaqpa lsrvlvvdiq aqkvlqsigv
      541 dplpaklsyd kshdqvwvls wgdvhksrps lqviteastg qsqhlirtpf agvddffipp
      601 tnliinhirf gfifnksdpa vhkvdletmm plktiglhhh gcvpqamaht hlggyffiqc
      661 rqdspasaar qllvdsvtds vlgpngdvtg tphtspdgrf ivsaaadspw lhvqeitvrg
      721 eiqtlydlqi nsgisdlafq rsftesnqyn iyaalhtepd llflelstgk vgmlknlkep
      781 pagpaqpwgg thrimrdsgl fgqylltpar eslflingrq ntlrcevsgi kggttvvwvg
      841 ev
//
LOCUS       XP_054208397            1341 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein KIAA0825 isoform X1 [Homo sapiens].
ACCESSION   XP_054208397
VERSION     XP_054208397.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352422.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1341
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1341
                     /product="uncharacterized protein KIAA0825 isoform X1"
                     /calculated_mol_wt=154861
     CDS             1..1341
                     /gene="KIAA0825"
                     /gene_synonym="C5orf36; PAPA10"
                     /coded_by="XM_054352422.1:415..4440"
                     /db_xref="GeneID:285600"
                     /db_xref="HGNC:HGNC:28532"
                     /db_xref="MIM:617266"
ORIGIN      
        1 mdwddeyshn sfdlhcllns fpgdlefeqi fsdidekieq naasikhcik eiqseinkqc
       61 pgvqlqtttd cfewltnyny stsessfish gdlikffktl qdllkneqnq eemtldllwd
      121 lschssvsfp stlsgtsfhf lsrtslhsve dnssmdvksm wddirlhlrr flvsklqshn
      181 einnsqqkil lkkqclqqll flypesevii kyqniqnkll anllwncfps ynrdsnldvi
      241 ahgyqstmlk lysvikedfn tlceilapss mvkfiketyl dtvteemakf lenfcelqfr
      301 enavrvvkts kssskhrgav halvttecpq kgrnfslpld kveflsqlik sfmklekgvq
      361 elfdeillsl kitrdtsgil eksdrevvme kpranetnip seqslpgkea tlldfgwrsa
      421 fkevslpmah cvvtaiegfs tkilqqeqne rssavsyamn lvnvqqvwqd shmfpeeeqp
      481 kkigkfcsdi mekldtmlpl alacrddsfq eiranlveac ckvatavlqr lqerakevps
      541 kaplknlhty lstavyvfqh fkrydnlmke mtkkpiflvl vqryqefint lqfqvtnycv
      601 rvcatsilqd aeshhwddyk afyegercsf siqmwhyfcw slhydlwtil ppklaqeilv
      661 evlekslsll asryarahps rkrtpqlrld vttilicten mlwsvctsvq kllnphqhtd
      721 dkifkihthc nnlfttlvil tspltelykt fqhgldesas dslksffkqp lywvscishf
      781 ypsllrtpsa gglkaegqlk lllsqprcnw nllletllhh dglllrillk sskrtfqeqv
      841 sdtennlnqg pslmetifki lyhcsfspqt fanvfvsyme eeqlwdflyn ipvstcveye
      901 levirclrla ltdaikdtvq qivsvmssrr ncetnlnkhi vpdcllesmp kewnyspket
      961 nrkescksft rltaqavsiv isklptviac lpppvkyfff lserkmskkf velkkagllv
     1021 wnliviicri fedgntvell tgasldrwsk eklglicmcl ksimgdqtsi hnqmiqkviq
     1081 sieqqkpnwi erqllkarkl stecafmtie kstalqegdv alelteqkin tmvldlchkp
     1141 ggreylrqiy himqlneeyl keqlfsmnss eekplpirpl kttlrsiedq psafnpfhvy
     1201 kafsenmldq saitkwnwnw akllpnylrl dkmtfsvllk nrthwrepmn htarsrwlif
     1261 tkrgnciass fltflsemlp lsypmpetpl fngviviegs mlsasveafp ntlalmnlsf
     1321 lnsialsvll ildltcaflg f
//
LOCUS       XP_054209710             360 aa            linear   PRI 20-MAR-2023
DEFINITION  PDZ and LIM domain protein 4 isoform X2 [Homo sapiens].
ACCESSION   XP_054209710
VERSION     XP_054209710.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353735.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..360
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..360
                     /product="PDZ and LIM domain protein 4 isoform X2"
                     /calculated_mol_wt=38174
     CDS             1..360
                     /gene="PDLIM4"
                     /gene_synonym="RIL"
                     /coded_by="XM_054353735.1:40..1122"
                     /db_xref="GeneID:8572"
                     /db_xref="HGNC:HGNC:16501"
                     /db_xref="MIM:603422"
ORIGIN      
        1 mphsvtlrgp spwgfrlvgg rdfsapltis rdgspttsrr psgtgtgped grpslgspyg
       61 qpprfpvphn gsseatlpaq mstlhvsppp sadparglpr srdcrvdlgs evyrmlrepa
      121 epvaaepkqs gsfrylqgml eageggktpa tcphlpshsl qcpgcplatp rpasqspalf
      181 glcgpvprpc ynlatpwlpd slstpcrcps pharqtrspv sgadgpsgaq pntpqkwssd
      241 lltpfmpptl rvsgdwpgpg gprnlkptas klgaplsglq glpectrcgh givgtivkar
      301 dklyhpecfm csdcglnlkq rgyfflderl yceshakarv kppegydvva vypnakvelv
//
LOCUS       XP_054209851             935 aa            linear   PRI 20-MAR-2023
DEFINITION  synphilin-1 isoform X7 [Homo sapiens].
ACCESSION   XP_054209851
VERSION     XP_054209851.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353876.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..935
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..935
                     /product="synphilin-1 isoform X7"
                     /calculated_mol_wt=102215
     CDS             1..935
                     /gene="SNCAIP"
                     /gene_synonym="Sph1; SYPH1"
                     /coded_by="XM_054353876.1:439..3246"
                     /db_xref="GeneID:9627"
                     /db_xref="HGNC:HGNC:11139"
                     /db_xref="MIM:603779"
ORIGIN      
        1 meapeyldld eidfsddisy svtslktipe lcrrcdtqne drsvsssswn cgistlitnt
       61 qkptgiadvy skfrpvkrvs plkhqpetle nnesddqknq kvveyqkgge sdlgpqpqel
      121 gpgdgvggpp gkssepstsl gelehydldm deildvpyik ssqqlasftk vtsekrilgl
      181 cttinglsgk acstgssess ssnmapfcvl spvksphlrk asavihdqhk lsteeteisp
      241 plvkcgsaye penqskdfln ktfsdphgrk vekttpdcql rafhlqssaa eskpeeqvsg
      301 lnrtssqgpe erseylkkvk silnivkegq isllphlaad nldkihdeng nnllhiaasq
      361 ghaeclqhlt slmgedclne rntekltpag laikngqlec vrwmvsetea iaelscskdf
      421 pslihyagcy gqekillwll qfmqeqgisl devdqdgnsa vhvasqhgyl gciqtlveyg
      481 anvtmqnhag ekpsqsaerq ghtlcsrylv vvetcmslas qvvkltkqlk eqtvervtlq
      541 nqlqqfleaq ksegkslpss psspsspasr ksqwkspdad ddsvakskpg vqegiqvlgs
      601 lsassrarpk akdedsdkil rqllgkeise nvctqeklsl efqdaqassr nskkiplekr
      661 elklarlrql mqrslsesdt dsnnsedpkt tpvrkadrpr pqpivesves mdsaeslhlm
      721 ikkhtlasgg rrfpfsikas ksldghspsp tsessepdle sqypgsgsip pnqpsgdpqq
      781 pspdstaaqk vatspksalk spsskrrtsq nlklrvtfee pvvqmeqpsl elngekdkdk
      841 grtlqrtsts nesgdqlkrp fgafrsimet lsgnqnnnnn yqaanqlkts tlpltslgrk
      901 tdakgnpass askgknkadi ilnrkrnkdv edigk
//
LOCUS       XP_054211315             177 aa            linear   PRI 20-MAR-2023
DEFINITION  putative uncharacterized protein C6orf52 isoform X2 [Homo sapiens].
ACCESSION   XP_054211315
VERSION     XP_054211315.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355340.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..177
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..177
                     /product="putative uncharacterized protein C6orf52 isoform
                     X2"
                     /calculated_mol_wt=20051
     CDS             1..177
                     /gene="C6orf52"
                     /coded_by="XM_054355340.1:78..611"
                     /db_xref="GeneID:347744"
                     /db_xref="HGNC:HGNC:20881"
ORIGIN      
        1 mpheevltar rkksgasrhi sgrcqlrpse gsgrdilcea lhfrdirrsl psairvkqef
       61 qpsqsyrygn wyarqhgsyl lsgysygcav dgngkdcfsa hetpehtagt lvmpkettpl
      121 aenqdedple dphlhlniee snqefmvkse elydslmnch wqpldtvhse ipdetpk
//
LOCUS       XP_054211408             648 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase MAK isoform X1 [Homo sapiens].
ACCESSION   XP_054211408
VERSION     XP_054211408.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355433.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..648
                     /product="serine/threonine-protein kinase MAK isoform X1"
                     /calculated_mol_wt=73349
     CDS             1..648
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /coded_by="XM_054355433.1:428..2374"
                     /db_xref="GeneID:4117"
                     /db_xref="HGNC:HGNC:6816"
                     /db_xref="MIM:154235"
ORIGIN      
        1 mnryttmrql gdgtygsvlm gksnesgelv aikrmkrkfy swdecmnlre vkslkklnha
       61 nviklkevir endhlyfife ymkenlyqlm kdrnklfpes virnimyqil qglafihkhg
      121 ffhrdmkpen llcmgpelvk iadfglarel rsqppytdyv strwyrapev llrssvyssp
      181 idvwavgsim aelymlrplf pgtsevdeif kicqvlgtpk ksdwpegyql assmnfrfpq
      241 cvpinlktli pnasneaiql mtemlnwdpk krptasqalk hpyfqvgqvl gpssnhlesk
      301 qslnkqlqpl eskpslveve pkplpdiidq vvgqpqpkts qqplqpiqpp qnlsvqqppk
      361 qqsqekppqt lfpsivknmp tkpngtlshk sgrrrwgqti fksgdsweel edydfgashs
      421 kkpsmgvfke krkkdspfrl pepvpsgsnh stgenkslpa vtslksdsel staptskqyy
      481 lkqsrylpgv npkkvslias gkeinphtws nqlfpkslgp vgaelafkrs naeesiikpi
      541 eklscnetfp ekledpqgnl gsyatynqsg yipsflkkev qsagqrihla plnataseyt
      601 wntktgrgqf sgrtynptak nlnivnraqp ipsvhgrtdw vakygghr
//
LOCUS       XP_054211483            1806 aa            linear   PRI 20-MAR-2023
DEFINITION  afadin isoform X44 [Homo sapiens].
ACCESSION   XP_054211483
VERSION     XP_054211483.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355508.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 6% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1806
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1806
                     /product="afadin isoform X44"
                     /calculated_mol_wt=204331
     CDS             1..1806
                     /gene="AFDN"
                     /gene_synonym="AF6; l-afadin; MLL-AF6; MLLT4"
                     /coded_by="XM_054355508.1:570..5990"
                     /db_xref="GeneID:4301"
                     /db_xref="HGNC:HGNC:7137"
                     /db_xref="MIM:159559"
ORIGIN      
        1 msaggrdeer rkladiihhw nanrldlfei sqptedlefh gvmrfyfqdk aagnfatkci
       61 rvsstattqd vietlaekfr pdmrmlsspk yslyevhvsg errldidekp lvvqlnwnkd
      121 dregrfvlkn endaippkaq sngpekqeke gviqnfkrtl skkekkekkk rekealrqas
      181 dkddrpfqge dvensrlaae vykdmpetsf trtisnpevv mkrrrqqkle krmqefrssd
      241 grpdsggtlr iyadslkpni pyktillstt dpadfavaea lekygleken pkdyciarvm
      301 lppgaqhsde kgakeiildd decplqifre wpsdkgilvf qlkrrppdhi pkktkkhleg
      361 ktpkgkerad gsgygstlpp eklpylvels pdgsdsrdkp klyrlqlsvt evgteklddn
      421 siqlfgpgiq phhcdltnmd gvvtvtprsm daetyvegqr isettmlqsg mkvqfgashv
      481 fkfvdpsqdh alakrsvdgg lmvkgprhkp givqettfdl ggdihsgtal ptsksttrld
      541 sdrvssasst aergmvkpmi rveqqpdyrr qesrtqdasg pelilpasie fressedsfl
      601 saiinytnss tvhfklspty vlymacryvl snqyrpdisp terthkviav vnkmvsmmeg
      661 viqkqkniag alafwmanas ellnfikqdr dlsritldaq dvlahlvqma fkylvhclqs
      721 elnnympafl ddpeenslqr pkiddvlhtl tgamsllrrc rvnaaltiql fsqlfhfinm
      781 wlfnrlvtdp dsglcshywg aiirqqlghi eawaekqgle laadchlsri vqattlltmd
      841 kyapddipni nstcfklnsl qlqallqnyh capdepfipt dlienvvtva entadelars
      901 dgrevqleed pdlqlpfllp edgyscdvvr nipnglqefl dplcqrgfcr liphtrspgt
      961 wtiyfegady eshllrente laqplrkepe iitvtlkkqn gmglsivaak gagqdklgiy
     1021 vksvvkggaa dvdgrlaagd qllsvdgrsl vglsqeraae lmtrtssvvt levakqgaiy
     1081 hglatllnqp spmmqrisdr rgsgkprpks egfelynnst qngspespql pwaeysepkk
     1141 lpgddrlmkn radhrsspnv anqppspggk sayasgttak itsvstgnlc teeqtppprp
     1201 eaypiptqty treyftfpas ksqdrmappq nqwpnyeekp hmhtdsnhss iaiqrvtrsq
     1261 eelredkayq lerhrieaam drksdsdmwi nqsssldsst ssqehlnhss ksvtpastlt
     1321 ksgpgrwktp aaipatpvav sqpirtdlpp ppppppvhya gdfdgmsmdl plppppsanq
     1381 iglpsaqvaa aerrkreehq rwyekekarl eeererkrre qerklgqmrt qslnpapfsp
     1441 ltaqqmkpek pstlqrpqet virelqpqqq prtierrdlq yitvskeels sgdslspdpw
     1501 krdakeklek qqqmhivdml skeiqelqsk pdrsaeesdr lrklmlewqf qkrlqeskqk
     1561 deddeeeedd dvdtmlimqr leaerrarde errrqqqlee mrkreaedra rqeeerrrqe
     1621 eertkrdaee krrqeegyys rleaerrrqh deaarrllep eapglcrppl prdyeppsps
     1681 papgappppp qrnasylktq vlspdslfta kfvayneeee eedcslagpn sypgstgaav
     1741 gahdacrdak ekrsksqdad spgssgapen ltfkerqrlf sqgqdvsnkv kasrkltele
     1801 nelntk
//
LOCUS       XP_054211608             454 aa            linear   PRI 20-MAR-2023
DEFINITION  serpin B6 isoform X1 [Homo sapiens].
ACCESSION   XP_054211608
VERSION     XP_054211608.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355633.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..454
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..454
                     /product="serpin B6 isoform X1"
                     /calculated_mol_wt=51100
     CDS             1..454
                     /gene="SERPINB6"
                     /gene_synonym="CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3"
                     /coded_by="XM_054355633.1:180..1544"
                     /db_xref="GeneID:5269"
                     /db_xref="HGNC:HGNC:8950"
                     /db_xref="MIM:173321"
ORIGIN      
        1 mscpckqnfl hhateittct vhrrftllqd snaatdltgg gaqavmfahl lltsccvaqf
       61 ltdhrricwg llhiksaimd vlaeangtfa lnllktlgkd nsknvffspm smscalamvy
      121 mgakgntaaq maqilsfnks ggggdihqgf qslltevnkt gtqyllrman rlfgekscdf
      181 lssfrdscqk fyqaemeeld fisaveksrk hintwvaekt egkiaellsp gsvdpltrlv
      241 lvnavyfrgn wdeqfdkent eerlfkvskn eekpvqmmfk qstfkktyig eiftqilvlp
      301 yvgkelnmii mlpdettdlr tvekeltyek fvewtrldmm deeevevslp rfkleesydm
      361 esvlrnlgmt dafelgkadf sgmsqtdlsl skvvhksfve vneegteaaa ataaimmmrc
      421 arfvprfcad hpflffiqhs ktngilfcgr fssp
//
LOCUS       XP_054211952             293 aa            linear   PRI 20-MAR-2023
DEFINITION  Golgi-associated PDZ and coiled-coil motif-containing protein
            isoform X1 [Homo sapiens].
ACCESSION   XP_054211952
VERSION     XP_054211952.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355977.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..293
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..293
                     /product="Golgi-associated PDZ and coiled-coil
                     motif-containing protein isoform X1"
                     /calculated_mol_wt=32291
     CDS             1..293
                     /gene="GOPC"
                     /gene_synonym="CAL; dJ94G16.2; FIG; GOPC1; PIST"
                     /coded_by="XM_054355977.1:783..1664"
                     /db_xref="GeneID:57120"
                     /db_xref="HGNC:HGNC:17643"
                     /db_xref="MIM:606845"
ORIGIN      
        1 mkeaqleaev kllrkeneal rrhiavlqae vygarlaaky ldkelagrvq qiqllgrdmk
       61 gpahdklwnq leaeihlhrh ktviracrgr ndlkrpmqap pghdqdslkk sqgvgpirkv
      121 lllkedhegl gisitggkeh gvpiliseih pgqpadrcgg lhvgdailav ngvnlrdtkh
      181 keavtilsqq rgeiefevvy vapevdsdde nveyedesgh ryrlyldele gggnpgasck
      241 dtsgeikvlq gfnkkavtdt hengdlgtas etplddgask lddlhtlyhk ksy
//
LOCUS       XP_054214166            1423 aa            linear   PRI 20-MAR-2023
DEFINITION  laminin subunit beta-1 isoform X4 [Homo sapiens].
ACCESSION   XP_054214166
VERSION     XP_054214166.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358191.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1423
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1423
                     /product="laminin subunit beta-1 isoform X4"
                     /calculated_mol_wt=157519
     CDS             1..1423
                     /gene="LAMB1"
                     /gene_synonym="CLM; LIS5"
                     /coded_by="XM_054358191.1:538..4809"
                     /db_xref="GeneID:3912"
                     /db_xref="HGNC:HGNC:6486"
                     /db_xref="MIM:150240"
ORIGIN      
        1 mdcplsaptp ppplvrffra plpacvpptl lpvlpaalcr arvraqepef sygcaegscy
       61 patgdlligr aqklsvtstc glhkpepyci vshlqedkkc ficnsqdpyh etlnpdshli
      121 envvttfapn rlkiwwqsen gvenvtiqld leaefhfthl imtfktfrpa amlierssdf
      181 gktwgvyryf aydceasfpg istgpmkkvd diicdsrysd iepstegevi fraldpafki
      241 edpyspriqn llkitnlrik fvklhtlgdn lldsrmeire kyyyavydmv vrgncfcygh
      301 asecapvdgf neevegmvhg hcmcrhntkg lncelcmdfy hdlpwrpaeg rnsnackkcn
      361 cnehsischf dmavylatgn vsggvcddcq hntmgrnceq ckpfyyqhpe rdirdpnfce
      421 rctcdpagsq negicdsytd fstgliagqc rcklnvegeh cdvckegfyd lssedpfgck
      481 scacnplgti pggnpcdset ghcyckrlvt gqhcdqclpe hwglsndldg crpcdcdlgg
      541 alnnscfaes gqcscrphmi grqcnevepg yyfatldhyl yeaeeanlgp gvsiverqyi
      601 qdripswtga gfvrvpegay leffidnipy smeydiliry epqlpdhwek avitvqrpgr
      661 iptssrcgnt ipdddnqvvs lspgsryvvl prpvcfekgt nytvrlelpq ytssdsdves
      721 pytlidslvl mpycksldif tvggsgdgvv tnsawetfqr yrclensrsv vktpmtdvcr
      781 niifsisall hqtglacecd pqgslssvcd pnggqcqcrp nvvgrtcnrc apgtfgfgps
      841 gckpcechlq gsvnafcnpv tgqchcfqgv yarqcdrclp ghwgfpscqp cqcnghaddc
      901 dpvtgeclnc qdytmghnce rclagyygdp iigsgdhcrp cpcpdgpdsg rqfarscyqd
      961 pvtlqlacvc dpgyigsrcd dcasgyfgnp sevggscqpc qchnnidttd peacdketgr
     1021 clkclyhteg ehcqfcrfgy ygdalrqdcr kcvcnylgtv qehcngsdcq cdkatgqclc
     1081 lpnvigqncd rcapntwqla sgtgcdpcnc naahsfgpsc neftgqcqcm pgfggrtcse
     1141 cqelfwgdpd vecracdcdp rgietpqcdq stgqcvcveg vegprcdkct rgysgvfpdc
     1201 tpchqcfalw dviiaeltnr thrflekaka lkisgvigpy retvdsverk vseikdilaq
     1261 spaaeplkni gnlfeeaekl ikdvtemmaq vevklsdtts qsnstakeld slqteaesld
     1321 ntvkelaeql efiknsdirg aldsitkyfq msleaeervn asttepnstv eqsalmrdrv
     1381 edvmmeresq fkekqeeqar lldelagklq sldlsaaaem hpc
//
LOCUS       XP_054214530            1023 aa            linear   PRI 20-MAR-2023
DEFINITION  cytoplasmic dynein 2 intermediate chain 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054214530
VERSION     XP_054214530.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358555.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1023
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1023
                     /product="cytoplasmic dynein 2 intermediate chain 1
                     isoform X1"
                     /calculated_mol_wt=117307
     CDS             1..1023
                     /gene="DYNC2I1"
                     /gene_synonym="CFAP163; DIC6; FAP163; SRPS6; SRTD8; WDR60"
                     /coded_by="XM_054358555.1:218..3289"
                     /db_xref="GeneID:55112"
                     /db_xref="HGNC:HGNC:21862"
                     /db_xref="MIM:615462"
ORIGIN      
        1 mdlpehkepr crdpdqdars rdrvaevhta kesprgerdr drqrerrrda kdrekeklke
       61 khreaekshs rgkdrekekd rrarkeelrq tvahhnllgq etrdrqller aerkgrsvsk
      121 vrseekdeds ergdedrerr yrerklqygd skdnplkywl ykeegerrhr kprepdrdkk
      181 hreksstrek rekyskeksn sfsdkgeerh kekrhkegfh fdderhqsnv drkeksakde
      241 prkresqnge hrnrgasskr dgtssqhaen lvrnhgkdkd srrkhgheeg ssvwwkldqr
      301 pggeetvvrr eiekeetdle naradaytas ceddfedyed dfevcdgddd essnepesre
      361 kleelplaqk keiqeiqrai naenerigel slklfqkrgr tefekeprtd tnsspsrasv
      421 cgifvdfasa shrqksrtqa lkqkmrstkl lrlidldfsf tfslldlppv neydmyirnf
      481 gkkntkqayv qcnednverd iqteeietre vwtqhpgest vvsggseqrd tsdavvmpki
      541 dtprlcsflr aacqvmavll eedrlaaeps wnlraqdral yfsdsssqln tslpflqnrk
      601 vsslhtsrvq rqmvvsvhdl peksfvplld skyvlcvwdi wqpsgpqkvl icesqvtccc
      661 lsplkafllf agtahgsvvv wdlredsrlh ysvtlsdgfw tfrtatfstd giltsvnhrs
      721 plqavepist svhkkqsfvl spfstqeems glsfhiasld esgvlnvwvv velpkadiag
      781 sisdlglmpg grvklvhsal iqlgdslshk gnefwgttqt lnvkflpsdp nhfiigtdmg
      841 lishgtrqdl rvapklfkpq qhgirpvkvn vidfspfgep iflagcsdgs irlhqlssaf
      901 pllqwdsstd shavtglqws ptrpavflvq ddtsniyiwd llqsdlgpva kqqvspnrlv
      961 amaavgepek aggsflalvl arasgsidiq hlkrrwaape vdecnrlrll lqealwpegk
     1021 lhk
//
LOCUS       XP_054214541             878 aa            linear   PRI 20-MAR-2023
DEFINITION  cytoplasmic dynein 2 intermediate chain 1 isoform X9 [Homo
            sapiens].
ACCESSION   XP_054214541
VERSION     XP_054214541.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358566.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..878
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..878
                     /product="cytoplasmic dynein 2 intermediate chain 1
                     isoform X9"
                     /calculated_mol_wt=98643
     CDS             1..878
                     /gene="DYNC2I1"
                     /gene_synonym="CFAP163; DIC6; FAP163; SRPS6; SRTD8; WDR60"
                     /coded_by="XM_054358566.1:28..2664"
                     /db_xref="GeneID:55112"
                     /db_xref="HGNC:HGNC:21862"
                     /db_xref="MIM:615462"
ORIGIN      
        1 mktlkeemki ekedtekesc stetarttls stgfikkkar gdtgspesqi etrntekkaa
       61 qgkkernipk rkvihsltkg kkdikksdtk kvfilmmrgt katwiekrnr qkmspgkgnp
      121 rhaenlvrnh gkdkdsrrkh gheegssvww kldqrpggee tvvrreieke etdlenarad
      181 aytasceddf edyeddfevc dgdddessne pesrekleel plaqkkeiqe iqrainaene
      241 rigelslklf qkrgrtefek eprtdtnssp srasvcgifv dfasashrqk srtqalkqkm
      301 rstkllrlid ldfsftfsll dlppvneydm yirnfgkknt kqayvqcned nverdiqtee
      361 ietrevwtqh pgestvvsgg seqrdtsdav vmpkidtprl csflraacqv mavlleedrl
      421 aaepswnlra qdralyfsds ssqlntslpf lqnrkvsslh tsrvqrqmvv svhdlpeksf
      481 vplldskyvl cvwdiwqpsg pqkvlicesq vtccclsplk afllfagtah gsvvvwdlre
      541 dsrlhysvtl sdgfwtfrta tfstdgilts vnhrsplqav epistsvhkk qsfvlspfst
      601 qeemsglsfh iasldesgvl nvwvvvelpk adiagsisdl glmpggrvkl vhsaliqlgd
      661 slshkgnefw gttqtlnvkf lpsdpnhfii gtdmglishg trqdlrvapk lfkpqqhgir
      721 pvkvnvidfs pfgepiflag csdgsirlhq lssafpllqw dsstdshavt glqwsptrpa
      781 vflvqddtsn iyiwdllqsd lgpvakqqvs pnrlvamaav gepekaggsf lalvlarasg
      841 sidiqhlkrr waapevdecn rlrlllqeal wpegklhk
//
LOCUS       XP_054214913             868 aa            linear   PRI 20-MAR-2023
DEFINITION  CAP-Gly domain-containing linker protein 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054214913
VERSION     XP_054214913.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358938.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..868
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..868
                     /product="CAP-Gly domain-containing linker protein 2
                     isoform X1"
                     /calculated_mol_wt=95515
     CDS             1..868
                     /gene="CLIP2"
                     /gene_synonym="CLIP; CLIP-115; CYLN2; WBSCR3; WBSCR4;
                     WSCR3; WSCR4"
                     /coded_by="XM_054358938.1:396..3002"
                     /db_xref="GeneID:7461"
                     /db_xref="HGNC:HGNC:2586"
                     /db_xref="MIM:603432"
ORIGIN      
        1 mqkpsglkpp grggkhsspm grtstgsass saavaasske gsplhkqssg pssspaaaaa
       61 pekpgpkaae vgddflgdfv vgervwvngv kpgvvqylge tqfapgqwag vvlddpvgkn
      121 dgavggvryf ecpalqgift rpskltrqpt aegsgsdahs vesltaqnls lhsgtatppl
      181 tsrviplres vlnssvktgn esgsnlsdsg svkrgekdlr lgdrvlvggt ktgvvryvge
      241 tdfakgewcg veldeplgkn dgavagtryf qcppkfglfa pihkvirigf pstspakakk
      301 tkrmamgvsa lthspssssi ssvssvassv ggrpsrsgll tetssryark isgttalqea
      361 lkekqqhieq llaerdlera evakatshic evekeiallk aqheqyvaea eeklqrarll
      421 vesvrkekvd lsnqleeerr kvedlqfrve eesitkgdle tqtqlehari geleqsllle
      481 kaqaerllre ladnrlttva eksrvlqlee eltlrrgeie elqqcllhsg ppppdhpdaa
      541 eilrlrerll saskehqres gvlrdkyeka lkayqaevdk lraanekyaq evaglkdkvq
      601 qatsenmglm dnwkskldsl asdhqksled lkatlnsgpg aqqkeigelk avmegikmeh
      661 qlelgnlqak hdletamhvk ekealreklq eaqeelaglq rhwraqlevq asqhrlelqe
      721 aqdqrrdael rvhelekldv eyrgqaqaie flkeqislae kkmldyerlq raeaqgkqev
      781 eslrekllva enrlqaveal cssqhthmie sndiseetir tketveglqd klnkrdkevt
      841 altsqtemlr aqrwrasvsq arrrwtps
//
LOCUS       XP_054215254            1482 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-dependent kinase 13 isoform X2 [Homo sapiens].
ACCESSION   XP_054215254
VERSION     XP_054215254.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359279.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1482
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1482
                     /product="cyclin-dependent kinase 13 isoform X2"
                     /calculated_mol_wt=161817
     CDS             1..1482
                     /gene="CDK13"
                     /gene_synonym="CDC2L; CDC2L5; CHDFIDD; CHED; hCDK13"
                     /coded_by="XM_054359279.1:387..4835"
                     /db_xref="GeneID:8621"
                     /db_xref="HGNC:HGNC:1733"
                     /db_xref="MIM:603309"
ORIGIN      
        1 mpsssdtalg gggglswaek kleerrkrrr flspqqppll lpllqpqllq pppppppllf
       61 laapgtaaaa aaaaaasssc fspgpplevk rlargkrrag grqkrrrgpr agqeaekrrv
      121 fslpqpqqdg gggassgggv tplveyedvs sqseqglllg gasaataata aggtggsggs
      181 passsgtqrr gegserrprr drrsssgrsk erhrehrrrd gqrggseask srsrhshsge
      241 eraevaksgs ssssggrrks asatssssss rkdrdskahr srtksskepp saykeppkay
      301 redktepkay rrrrslsplg grddspvshr asqslrsrks pspagggssp ysrrlprsps
      361 pysrrrspsy srhssyergg dvspspysss swrrsrspys pvlrrsgksr srspyssrhs
      421 rsrsrhrlsr srsrhssisp stltlkssla aelnknkkar aaeaaraaea akaaeatkaa
      481 eaaakaakas ntstptkgnt etsasasqtn hvkdvkkiki ehapspssgg tlkndkaktk
      541 pplqvtkven nlivdkatkk avivgkesks aatkeesvsl kektkpltps igakekeqhv
      601 alvtstlppl plppmlpedk eadslrgnis vkavkkevek klrclladlp lppelpggdd
      661 lskspeekkt atqlhskrrp kicgpryget kekdidwgkr cvdkfdiigi igegtygqvy
      721 kardkdtgem valkkvrldn ekegfpitai reikilrqlt hqsiinmkei vtdkedaldf
      781 kkdkgafylv feymdhdlmg llesglvhfn enhiksfmrq lmegldychk knflhrdikc
      841 snillnnrgq ikladfglar lysseesawl mliwekvifi wrillmqmsa gsfgdssrpy
      901 tnkvitlwyr ppelllgeer ytpaidvwsc gcilgelftk kpifqanqel aqlelisric
      961 gspcpavwpd viklpyfntm kpkkqyrrkl reefvfipaa aldlfdymla ldpskrctae
     1021 qalqceflrd vepskmpppd lplwqdchel wskkrrrqkq mgmtddvsti kaprkdlslg
     1081 lddsrtntpq gvlpssqlks qgssnvapge kqtdpstpqq esskplggiq pssqtiqpkv
     1141 etdaaqaavq safavlltql ikaqqskqkd vlleerengs gheaslqlrp ppepstpvsg
     1201 qddliqhqdm rileltpepd rprilppdqr ppeppepppv teedldyrte nqhvpttsss
     1261 ltdphagvka allqllaqhq pqddpkregg idyqagdtyv stsdykdnfg sssfssapyv
     1321 sndglgsssa pplerrsfig nsdiqsldny stasshsggp pqpsafsesf pssvagygdi
     1381 ylnagpmlfs gdkdhrfeys hgpiavlans sdpstgpest hplpakmhny nyggnlqenp
     1441 sgpslmhgqt wtspaqgpgy sqgyrghist stgrgrgrgl py
//
LOCUS       XP_054216534            1019 aa            linear   PRI 20-MAR-2023
DEFINITION  PHD finger protein 20-like protein 1 isoform X5 [Homo sapiens].
ACCESSION   XP_054216534
VERSION     XP_054216534.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360559.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1019
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1019
                     /product="PHD finger protein 20-like protein 1 isoform X5"
                     /calculated_mol_wt=115107
     CDS             1..1019
                     /gene="PHF20L1"
                     /gene_synonym="CGI-72; TDRD20B; URLC1"
                     /coded_by="XM_054360559.1:296..3355"
                     /db_xref="GeneID:51105"
                     /db_xref="HGNC:HGNC:24280"
                     /db_xref="MIM:620050"
ORIGIN      
        1 mskkppnrpg itfeigarle aldylqkwyp sriekidyee gkmlvhferw shrydewiyw
       61 dsnrlrpler palrkeglkd eedffdfkag eevlarwtdc ryypakieai nkegtftvqf
      121 ydgvirclkr mhikampeda kgqvksqhpl swccpidpag scnqsmgsed wialvkaaaa
      181 aaaknktgsk prtsansnkd kdkderkwfk vpskkeetst ciatpdvekk edlptssetf
      241 vglhvenvpk mvfpqpestl snkrknnqgn sfqakrarln kitgllaska vgvdgaekke
      301 dynetapmle qaispkpqsq kkneadisss antqkpalls stlssgkars kkckhesgds
      361 sgcikppksp lspeliqved ltlvsqlsss vinktsppqp vnpprpfkhs errrrsqrla
      421 tlpmpddsve kvsspspatd gkvfsissqn qqessvpevp dvahlplekl gpclpldlsr
      481 gsevtapvas dssyrnecpr aekedtqmlp npsskaiadg rgapaaagis ktekkvkled
      541 ksstafgkrk ekdkerrekr dkdhyrpkqk kkkkkkkksk qhdysdyeds sleflercss
      601 pltrssgssl asrsmftekt ttyqyprail svdlsgenls dvdflddsst eslllsgdey
      661 nqdfdstnfe esqdeddaln eivrcicemd eengfmiqce eclcwqhsvc mglleesipe
      721 qyicyicrdp pgqrwsakyr ydkewlnngr mcglsffken yshlnakkiv sthhlladvy
      781 gvtevlhglq lkigilknkh hpdlhlwacs gkrkdqdqii agvekkiaqd tvnreekkyv
      841 qnhkepprlp lkmegtyits ehsyqkpqsf gqdcksladp gssddddvss leeeqefhmr
      901 sknslqysak ehgmpekknp aegntvfvyn dkkgtedpgd shlqwqlnll thienvqnev
      961 tsrmdlieke vdvleswldf tgeleppdpl arlpqlkrhi kqllidmgkv qqiatlcsv
//
LOCUS       XP_054217715             794 aa            linear   PRI 20-MAR-2023
DEFINITION  semaphorin-4D isoform X2 [Homo sapiens].
ACCESSION   XP_054217715
VERSION     XP_054217715.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361740.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..794
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..794
                     /product="semaphorin-4D isoform X2"
                     /calculated_mol_wt=88157
     CDS             1..794
                     /gene="SEMA4D"
                     /gene_synonym="A8; BB18; C9orf164; CD100; coll-4; COLL4;
                     GR3; M-sema-G; SEMAJ"
                     /coded_by="XM_054361740.1:794..3178"
                     /db_xref="GeneID:10507"
                     /db_xref="HGNC:HGNC:10732"
                     /db_xref="MIM:601866"
ORIGIN      
        1 mrmctpirgl lmalavmfgt amafapipri twehrevhlv qfhepdiyny salllsedkd
       61 tlyigareav favnalnise kqhevywkvs edkkakcaek gkskqtecln yirvlqplsa
      121 tslyvcgtna fqpacdhlnl tsfkflgkne dgkgrcpfdp ahsytsvmvd gelysgtsyn
      181 flgsepiisr nsshsplrte yaipwlneps fvfadvirks pdspdgeddr vyffftevsv
      241 eyefvfrvli priarvckgd qgglrtlqkk wtsflkarli csrpdsglvf nvlrdvfvlr
      301 spglkvpvfy alftpqlnnv glsavcaynl staeevfshg kymqsttveq shtkwvryng
      361 pvpkprpgac idsearaany tsslnlpdkt lqfvkdhplm ddsvtpidnr prlikkdvny
      421 tqivvdrtqa ldgtvydvmf vstdrgalhk aislehavhi ieetqlfqdf epvqtlllss
      481 kkgnrfvyag snsgvvqapl afcgkhgtce dcvlardpyc awspptatcv alhqtespsr
      541 gliqemsgda svcpasspkp lpppgsssls clghvgdrrl sspwtpwpas gagpdsssrv
      601 sllppflsdq aqhvhalgnf ylfcqatvla srkwnyqwkm irkdplmala qaslvpgagw
      661 dgpekalghp rgvivgtmpl qcpgpadirf vwekngrale tcvpvqthal pdgrahalsw
      721 lqdairesae yrcsvlssag nktskvqvav mrpevthqer wtrelsawra vagehdrmmq
      781 swrkawescs kdtl
//
LOCUS       XP_054217800            2315 aa            linear   PRI 20-MAR-2023
DEFINITION  centriolin isoform X6 [Homo sapiens].
ACCESSION   XP_054217800
VERSION     XP_054217800.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361825.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2315
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2315
                     /product="centriolin isoform X6"
                     /calculated_mol_wt=267578
     CDS             1..2315
                     /gene="CNTRL"
                     /gene_synonym="bA165P4.1; CEP1; CEP110; FAN"
                     /coded_by="XM_054361825.1:145..7092"
                     /db_xref="GeneID:11064"
                     /db_xref="HGNC:HGNC:1858"
                     /db_xref="MIM:605496"
ORIGIN      
        1 mkkgsqqkif skakipsssh spipssmsnm rsrslsplig setlpfhsgg qwceqveiad
       61 ennmlldyqd hkgadshagv ryitealikk ltkqdnlali kslnlslskd ggkkfkyien
      121 lekcvklevl nlsynligki ekldkllklr elnlsynkis kiegienmcn lqklnlagne
      181 iehipvwlgk klkslrvlnl kgnkisslqd isklkplqdl islilvenpv vtlphylqft
      241 ifhlrslesl egqpvttqdr qeaferfsle everlerdle kkmieteelk skqtrfleei
      301 knqdklnksl keeamlqkqs ceelksdlnt knellkqkti eltracqkqy eleqelafyk
      361 idakfeplny ypseyaeidk apdespyigk srykrnmfat esyiidsaqa vqikkmepde
      421 qlrndhmnlr ghtpldtqle dkekkisaaq trlselhdei ekaeqqilra teefkqleea
      481 iqlkkealdl elqmekqkqe iagkqkeikd lqiaidslds kdpkhshmka qksgkeqqld
      541 imnkqyqqle srldeilsri aketeeikdl eeqltegqia anealkkdle gvisglqeyl
      601 gtikgqatqa qnecrklrde ketllqrlte veqerdqlei vamdaenmrk elaelesalq
      661 eqhevnaslq qtqgdlsaye aelearlnlr daeanqlkee lekvtrltql eqsalqaele
      721 kerqalknal gkaqfseeke qenselhakl khlqddnnll kqqlkdfqnh lnhvvdglvr
      781 peevaarvde lrrklklgtg emnihspsdv lgksladlqk qfseilarsk werdeaqvre
      841 rklqeemalq qeklatgqee frqacerale armnfdkrqh eariqqmene ihylqenlks
      901 meeiqgltdl qlqeadeeke rilaqlrele kkkkledaks qeqvfgldke lkklkkavat
      961 sdklataelt iakdqlkslh gtvmkinqer aeelqeaerf srkaaqaard ltraeaeiel
     1021 lqnllrqkge qfrlemektg vgtgansqvl eieklnetme rqrteiarlq nvldltgsdn
     1081 kggfenvlee iaelrrevsy qndyissmad pfkrrgywyf mppppsskvs shssqatkds
     1141 gvglkysast pvrkprpgqq dgkegsqppp asgywvyspi rsglhklfps rdadsggdsq
     1201 eeselddqee ppfvpppgym mytvlpdgsp vpqgmalyap ppplpnnsrp ltpgtvvygp
     1261 ppagapmvyg ppppnfsipf ipmgvlhcnv pehhnlenev srledimqhl kskkreerwm
     1321 raskrqseke meelhhnidd llqekkslec eveelhrtvq krqqqkdfid gnveslmtel
     1381 eiekslkhhe divdeiecie ktllkrrsel readrllaea eselsctkek tknavekftd
     1441 akrsllqtes daeelerraq etavnlvkad qqlrslqada kdleqhkikq eeilkeinki
     1501 vaakdsdfqc lskkkeklte elqklqkdie maernedhhl qvlkesevll qakraelekl
     1561 ksqvtsqqqe mavldrqlgh kkeelhllqg smvqakadlq ealrlgetev tekcnhirev
     1621 kslleelsfq kgelnvqise rktqltlikq eiekeeenlq vvlrqmskhk telknildml
     1681 qlenhelqgl klqhdqrvse lektqvavle eklelenlqq isqqqkgeie wqkqllerdk
     1741 reiermtaes ralqscvecl skekedlqek cdiwekklaq tkrvlaaaee nskmeqsnle
     1801 klelnvrklq qeldqlnrdk lslhndisam qqqlqekrea vnslqeelan vqdhlnlakq
     1861 dllhttkhqd vllseqtrlq kdisewanrf edcqkeeetk qqqlqvlqne ieenklklvq
     1921 qemmfqrlqk ereseeskle tskvtlkeqq hqlekeltdq kskldqvlsk vlaaeervrt
     1981 lqeeerwces lektlsqtkr qlsereqqlv eksgellalq keadsmradf sllrnqflte
     2041 rkkaekqvas lkealkiqrs qleknlltin edserdssll skeqkqensc iqkematiel
     2101 vaqdnherar rlmkelnqmq yeytelkkqm anqkdlerrq meisdamrtl ksevkdeirt
     2161 slknlnqflp elpadleail ernenlegel eslkenlpft mnegpfeekl nfsqvhimde
     2221 hwrgealrek lrhredrlka qlrhcmskqa evlikgkrqt egtlhslrrq vdalgelvts
     2281 tsadsassps lsqlesslte dsqlgqnqek nasar
//
LOCUS       XP_054220116             223 aa            linear   PRI 20-MAR-2023
DEFINITION  multivesicular body subunit 12B isoform X6 [Homo sapiens].
ACCESSION   XP_054220116
VERSION     XP_054220116.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364141.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..223
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..223
                     /product="multivesicular body subunit 12B isoform X6"
                     /calculated_mol_wt=24611
     CDS             1..223
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /coded_by="XM_054364141.1:102..773"
                     /db_xref="GeneID:89853"
                     /db_xref="HGNC:HGNC:23368"
ORIGIN      
        1 mrscfcvrrs rdppppqppp pppqrgtdqs tmpevkdlse alpetsmdpi tgvgvvasrn
       61 raptgydvva qtadgvdadl wkdglfkskv trylcftrsf skenshlgnv lvdmklidik
      121 dtlpvgfipi qetvdtqeva frkkrlcikf iprdsteaai cdirimgrtk qappqytfig
      181 elnsmgiwyr mgrvprnhds sqpttpsqss aastpapnlp rli
//
LOCUS       XP_054220148            1394 aa            linear   PRI 20-MAR-2023
DEFINITION  ADAMTS-like protein 1 isoform X8 [Homo sapiens].
ACCESSION   XP_054220148
VERSION     XP_054220148.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364173.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1394
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1394
                     /product="ADAMTS-like protein 1 isoform X8"
                     /calculated_mol_wt=152428
     CDS             1..1394
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /coded_by="XM_054364173.1:125..4309"
                     /db_xref="GeneID:92949"
                     /db_xref="HGNC:HGNC:14632"
                     /db_xref="MIM:609198"
ORIGIN      
        1 mpydlyhplp rweatpwtac ssscgggiqs ravscveedi qghvtsveew kcmytpkmpi
       61 aqpcnifdcp kwlaqewspc tvtcgqglry rvvlcidhrg mhtggcspkt kphikeeciv
      121 ptpcykpkek lpveaklpwf kqaqeleega avseepsfip eawsactvtc gvgtqvrivr
      181 cqvllsfsqs vadlpidece gpkpasqrac yagpcsgeip efnpdetdgl fgglqdfdel
      241 ydweyegftk csescgggvq eavvsclnkq trepaeenlc vtsrrppqll kscnldpcpa
      301 rweigkwspc sltcgvglqt rdvfcshlls remnetvila delcrqpkps tvqacnrfnc
      361 ppawypaqwq pcsrtcgggv qkrevlckqr madgsflelp etfcsaskpa cqqackkddc
      421 psewllsdwt ecstscgegt qtrsaicrkm lktgistvvn stlcpplpfs ssirpcmlat
      481 carpgrpstk hsphiaaark vyiqtrrqrk lhfvvggfay llpktavvlr cparrvrkpl
      541 itwekdgqhl issthvtvap fgylkihrlk psdagvytcs agparehfvi kliggnrklv
      601 arplsprsee evlagrkggp kealqthkhq ngifsngska ekrglaanpg sryddlvsrl
      661 leqggwpgel lasweaqdsa ernttseedp gaeqvllhlp ftmvteqrrl ddilgnlsqq
      721 peelrdlysk hlvaqlaqei frshlehqdt llkpserrts pvtlsphkhv sgfssslrts
      781 stgdagggsr rphrkptilr kisaaqqlsa sevvthlgqt valasgtlsv llhceaighp
      841 rptiswarng eevqfsdril lqpddslqil apveadvgfy tcnatnalgy dsvsiavtla
      901 gkplvktsrm tvintekpav tvdigstikt vqgvnvtinc qvagvpeaev twfrnksklg
      961 sphhlhegsl lltnvsssdq glyscraanl hgeltestql lildppqvpt qlediralla
     1021 atgpnlpsvl tsplgtqlvl gpgnsallgc pikghpvpni twfhggqpiv tatglthhil
     1081 aagqilqvan lsggsqgefs claqneagvl mqkaslviqd ywwsvdrlat csascgnrgv
     1141 qqprlrclln stevnpahca gkvrpavqpi acnrrdcpsr wmvtswsact rscgggvqtr
     1201 rvtcqklkas gistpvsndm ctqvakrpvd tqacnqqlcv ewafsswgqc ngpcigphla
     1261 vqhrqvfcqt rdgitlpseq csalprpvst qncwseacsv hwrvslwtlc tatcgnygfq
     1321 srrvecvhar tnkavpehlc swgprpanwq rcnitpcenm ecrdttryce kvkqlklcql
     1381 sqfksrccgt cgka
//
LOCUS       XP_054183778             510 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 75D isoform X1 [Homo sapiens].
ACCESSION   XP_054183778
VERSION     XP_054183778.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327803.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..510
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..510
                     /product="zinc finger protein 75D isoform X1"
                     /calculated_mol_wt=59167
     CDS             1..510
                     /gene="ZNF75D"
                     /gene_synonym="D8C6; ZKSCAN24; ZNF75; ZNF82; ZSCAN28"
                     /coded_by="XM_054327803.1:1782..3314"
                     /db_xref="GeneID:7626"
                     /db_xref="HGNC:HGNC:13145"
                     /db_xref="MIM:314997"
ORIGIN      
        1 mamrelnads csspqmgamw etsgsvkens sqskkystki enlgpesacr hfwsfryhea
       61 tgpletisql qklchqwlrp eihskeqile mlvleqflsi lpketqnwvq khhpqnvkqa
      121 lvlveflqre pdgtknevta helgkeavll ggtavapgfk wkpaepqpmg vfqkeywnty
      181 rvlqeqlgwn thketqpvye ravhdqqmla lseqkrikhw kmasklilpe slslltfedv
      241 avyfseeewq llnplektly ndvmqdiyet vislglklkn dtgndhpisv stseiqtsgc
      301 evskktrmki aqktmgrenp gdthsvqkwh rafprkkrkk patckqelpk lmdlhgkgpt
      361 gekpfkcqec gksfrvssdl ikhhrihtge kpykcqqcdr rfrwssdlnk hfmthqgikp
      421 yrcswcgksf shntnlhthq rihtgekpfk cdecgkrfiq nshlikhqrt htgeqpytcs
      481 lckrnfsrrs sllrhqklhr rreaclvspn
//
LOCUS       XP_054184358             545 aa            linear   PRI 20-MAR-2023
DEFINITION  probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase
            protein isoform X3 [Homo sapiens].
ACCESSION   XP_054184358
VERSION     XP_054184358.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328383.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060948) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..545
                     /organism="Homo sapiens"
                     /isolate="NA24385"
                     /bio_material="CORIELL:NA24385"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /sex="male"
                     /tissue_type="B-Lymphocyte"
     Protein         1..545
                     /product="probable bifunctional dTTP/UTP
                     pyrophosphatase/methyltransferase protein isoform X3"
                     /calculated_mol_wt=60666
     CDS             1..545
                     /gene="ASMTL"
                     /gene_synonym="ASMTLX; ASMTLY; ASTML"
                     /coded_by="XM_054328383.1:210..1847"
                     /db_xref="GeneID:8623"
                     /db_xref="HGNC:HGNC:751"
                     /db_xref="MIM:400011"
ORIGIN      
        1 mgtpwrppsr rpwrwptgct rktcgpptws lertrswlsg rehsvftgva ivhcsskdhq
       61 ldtrvsefye etkvkfsels eellweyvhs gepmdkaggy giqalggmlv esvhgdflnv
      121 vgfplnhfck qlvklyyppr pedlrrsvkh dpipaadtfe dlsdvegggs eptqrdagsr
      181 dekaeageag qataeaechr tretlppfpt rlleliegfm lskglltack lkvfdllkde
      241 apqkaadias kvdasacgme rlldicaamg llekteqgys ntetanvhla sdgeyslhgf
      301 imhnndltwn lftylefair egtnqhhral gkkaedlfqd ayyqspetrl rfmramhsmt
      361 kltacqvata fnlsrfssac dvggctgala relareyprm qvtvfdlpdi ielaahfqpp
      421 gpqavqihfa agdffrdplp saelyvlcri lhdwpddkvh kllsrvaesc kpgaglllve
      481 tlldeekrva qralmqslnm lvqtegkers lgeyqcllel hgfhqvqvvh lggvldaila
      541 tkvap
//
LOCUS       NP_001290386            1089 aa            linear   PRI 22-MAR-2023
DEFINITION  TELO2-interacting protein 1 homolog [Homo sapiens].
ACCESSION   NP_001290386 XP_005260678
VERSION     NP_001290386.1
DBSOURCE    REFSEQ: accession NM_001303457.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1089)
  AUTHORS   Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR,
            Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan
            S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V,
            Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd
            PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason
            J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A,
            Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF,
            Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli
            T, Dawson VL, Dawson TM and Antonarakis SE.
  TITLE     Bi-allelic TTI1 variants cause an autosomal-recessive
            neurodevelopmental disorder with microcephaly
  JOURNAL   Am J Hum Genet 110 (3), 499-515 (2023)
   PUBMED   36724785
  REMARK    GeneRIF: Bi-allelic TTI1 variants cause an autosomal-recessive
            neurodevelopmental disorder with microcephaly.
REFERENCE   2  (residues 1 to 1089)
  AUTHORS   Zhang LX, Yang X, Wu ZB, Liao ZM, Wang DG, Chen SW, Lu F, Wu YB and
            Zhu SQ.
  TITLE     TTI1 promotes non-small-cell lung cancer progression by regulating
            the mTOR signaling pathway
  JOURNAL   Cancer Sci 114 (3), 855-869 (2023)
   PUBMED   36403197
  REMARK    GeneRIF: TTI1 promotes non-small-cell lung cancer progression by
            regulating the mTOR signaling pathway.
REFERENCE   3  (residues 1 to 1089)
  AUTHORS   Kim Y, Park J, Joo SY, Kim BG, Jo A, Lee H and Cho Y.
  TITLE     Structure of the Human TELO2-TTI1-TTI2 Complex
  JOURNAL   J Mol Biol 434 (2), 167370 (2022)
   PUBMED   34838521
  REMARK    GeneRIF: Structure of the Human TELO2-TTI1-TTI2 Complex.
REFERENCE   4  (residues 1 to 1089)
  AUTHORS   Rao F, Cha J, Xu J, Xu R, Vandiver MS, Tyagi R, Tokhunts R,
            Koldobskiy MA, Fu C, Barrow R, Wu M, Fiedler D, Barrow JC and
            Snyder SH.
  TITLE     Inositol pyrophosphates mediate the DNA-PK/ATM-p53 cell death
            pathway by regulating CK2 phosphorylation of Tti1/Tel2
  JOURNAL   Mol Cell 54 (1), 119-132 (2014)
   PUBMED   24657168
  REMARK    GeneRIF: IP7, formed by IP6K2, binds CK2 to enhance its
            phosphorylation of the Tti1/Tel2 complex, thereby stabilizing
            DNA-PKcs and ATM. This process stimulates p53 phosphorylation at
            serine 15 to activate the cell death program.
            Erratum:[Mol Cell. 2020 Aug 20;79(4):702. PMID: 32822581]
REFERENCE   5  (residues 1 to 1089)
  AUTHORS   Fernandez-Saiz V, Targosz BS, Lemeer S, Eichner R, Langer C,
            Bullinger L, Reiter C, Slotta-Huspenina J, Schroeder S, Knorn AM,
            Kurutz J, Peschel C, Pagano M, Kuster B and Bassermann F.
  TITLE     SCFFbxo9 and CK2 direct the cellular response to growth factor
            withdrawal via Tel2/Tti1 degradation and promote survival in
            multiple myeloma
  JOURNAL   Nat Cell Biol 15 (1), 72-81 (2013)
   PUBMED   23263282
REFERENCE   6  (residues 1 to 1089)
  AUTHORS   Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanche H,
            Schreiber S and Nebel A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 1089)
  AUTHORS   Takai H, Xie Y, de Lange T and Pavletich NP.
  TITLE     Tel2 structure and function in the Hsp90-dependent maturation of
            mTOR and ATR complexes
  JOURNAL   Genes Dev 24 (18), 2019-2030 (2010)
   PUBMED   20801936
REFERENCE   8  (residues 1 to 1089)
  AUTHORS   Hurov KE, Cotta-Ramusino C and Elledge SJ.
  TITLE     A genetic screen identifies the Triple T complex required for DNA
            damage signaling and ATM and ATR stability
  JOURNAL   Genes Dev 24 (17), 1939-1950 (2010)
   PUBMED   20810650
  REMARK    GeneRIF: TTI1 and TTI2 protect cells from spontaneous DNA damage,
            and are required for the establishment of the intra-S and G2/M
            checkpoin
REFERENCE   9  (residues 1 to 1089)
  AUTHORS   Kaizuka T, Hara T, Oshiro N, Kikkawa U, Yonezawa K, Takehana K,
            Iemura S, Natsume T and Mizushima N.
  TITLE     Tti1 and Tel2 are critical factors in mammalian target of rapamycin
            complex assembly
  JOURNAL   J Biol Chem 285 (26), 20109-20116 (2010)
   PUBMED   20427287
  REMARK    GeneRIF: Data show that that knockdown of either Tti1 or Tel2
            causes disassembly of mTORC1 and mTORC2.
REFERENCE   10 (residues 1 to 1089)
  AUTHORS   Izumi N, Yamashita A, Iwamatsu A, Kurata R, Nakamura H, Saari B,
            Hirano H, Anderson P and Ohno S.
  TITLE     AAA+ proteins RUVBL1 and RUVBL2 coordinate PIKK activity and
            function in nonsense-mediated mRNA decay
  JOURNAL   Sci Signal 3 (116), ra27 (2010)
   PUBMED   20371770
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA652320.1, BC013755.1 and BU684997.1.
            On Jan 6, 2015 this sequence version replaced XP_005260678.1.
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' UTR compared to variant 1. Variants 1 and 2 encode the same
            isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK308164.1, SRR1803611.80270.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373447.8/ ENSP00000362546.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1089
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     Protein         1..1089
                     /product="TELO2-interacting protein 1 homolog"
                     /note="smg-10 homolog, nonsense mediated mRNA decay
                     factor; TEL2-interacting protein 1 homolog; Tel two
                     interacting protein 1"
                     /calculated_mol_wt=121939
     Site            459
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43156.3)"
     Region          826..852
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43156.3)"
     Site            828
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:23263282,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43156.3)"
     CDS             1..1089
                     /gene="TTI1"
                     /gene_synonym="KIAA0406; smg-10"
                     /coded_by="NM_001303457.2:95..3364"
                     /db_xref="CCDS:CCDS13300.1"
                     /db_xref="GeneID:9675"
                     /db_xref="HGNC:HGNC:29029"
                     /db_xref="MIM:614425"
ORIGIN      
        1 mavfdtpeea fgvlrpvcvq ltktqtvenv ehlqtrlqav sdsalqelqq yilfplrftl
       61 ktpgpkrerl iqsvvecltf vlsstcvkeq ellqelfsel saclyspssq kpaavseelk
      121 laviqglstl mhsaygdiil tfyepsilpr lgfavslllg laeqekskqi kiaalkclqv
      181 lllqcdcqdh prsldeleqk qlgdlfasfl pgistaltrl itgdfkqghs ivvsslkify
      241 ktvsfimade qlkriskvqa kpavehrvae lmvyreadwv kktgdkltil ikkiiecvsv
      301 hphwkvrlel velvedlllk csqslvecag pllkalvglv ndespeiqaq cnkvlrhfad
      361 qkvvvgnkal adilseslhs latslprlmn sqddqgkfst lslllgylkl lgpkinfvln
      421 svahlqrlsk aliqvleldv adikiveerr wnsddlnasp ktsatqpwnr iqrryfrfft
      481 derifmllrq vcqllgyygn lyllvdhfme lyhqsvvyrk qaamilnelv tgaagleved
      541 lhekhiktnp eelreivtsi leeytsqenw ylvtcletee mgeelmmehp glqaitsgeh
      601 tcqvtsflaf skpspticsm nsniwqiciq legigqfaya lgkdfclllm salypvleka
      661 gdqtllisqv atstmmdvcr acgydslqhl inqnsdylvn gislnlrhla lhphtpkvle
      721 vmlrnsdanl lplvadvvqd vlatldqfyd kraasfvsvl halmaalaqw fpdtgnlghl
      781 qeqslgeegs hlnqrpaale kstttaedie qfllnylkek dvadgnvsdf dneeeeqsvp
      841 pkvdendtrp dvepplplqi qiamdvmerc ihllsdknlq irlkvldvld lcvvvlqshk
      901 nqllplahqa wpslvhrltr daplavlraf kvlrtlgskc gdflrsrfck dvlpklagsl
      961 vtqapisara gpvyshtlaf klqlavlqgl gplcerldlg egdlnkvada cliylsvkqp
     1021 vklqeaarsv flhlmkvdpd stwfllnely cpvqftpphp slhpvqlhga sgqqnpyttn
     1081 vlqllkelq
//
LOCUS       NP_001903                333 aa            linear   PRI 22-MAR-2023
DEFINITION  procathepsin L isoform 1 preproprotein [Homo sapiens].
ACCESSION   NP_001903
VERSION     NP_001903.1
DBSOURCE    REFSEQ: accession NM_001912.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 333)
  AUTHORS   Mouawad JE, Sharma S, Renaud L, Pilewski JM, Nadig SN and
            Feghali-Bostwick C.
  TITLE     Reduced Cathepsin L expression and secretion into the extracellular
            milieu contribute to lung fibrosis in systemic sclerosis
  JOURNAL   Rheumatology (Oxford) 62 (3), 1306-1316 (2023)
   PUBMED   35900152
  REMARK    GeneRIF: Reduced Cathepsin L expression and secretion into the
            extracellular milieu contribute to lung fibrosis in systemic
            sclerosis.
REFERENCE   2  (residues 1 to 333)
  AUTHORS   Liu P, Ju M, Zheng X, Jiang Y, Yu X, Pan B, Luo R, Jia W and Zheng
            M.
  TITLE     Methyltransferase-like 3 promotes cervical cancer metastasis by
            enhancing cathepsin L mRNA stability in an
            N6-methyladenosine-dependent manner
  JOURNAL   Cancer Sci 114 (3), 837-854 (2023)
   PUBMED   36382580
  REMARK    GeneRIF: Methyltransferase-like 3 promotes cervical cancer
            metastasis by enhancing cathepsin L mRNA stability in an
            N6-methyladenosine-dependent manner.
REFERENCE   3  (residues 1 to 333)
  AUTHORS   Cui K, Yao S, Liu B, Sun S, Gong L, Li Q, Fei B and Huang Z.
  TITLE     A novel high-risk subpopulation identified by CTSL and ZBTB7B in
            gastric cancer
  JOURNAL   Br J Cancer 127 (8), 1450-1460 (2022)
   PUBMED   35941174
  REMARK    GeneRIF: A novel high-risk subpopulation identified by CTSL and
            ZBTB7B in gastric cancer.
REFERENCE   4  (residues 1 to 333)
  AUTHORS   Zhang L, Wei C, Li D, He J, Liu S, Deng H, Cheng J, Du J, Liu X,
            Chen H, Sun S, Yu H and Fu J.
  TITLE     COVID-19 receptor and malignant cancers: Association of CTSL
            expression with susceptibility to SARS-CoV-2
  JOURNAL   Int J Biol Sci 18 (6), 2362-2371 (2022)
   PUBMED   35414771
  REMARK    GeneRIF: COVID-19 receptor and malignant cancers: Association of
            CTSL expression with susceptibility to SARS-CoV-2.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 333)
  AUTHORS   Khan S, Cvammen W, Anabtawi N, Choi JH and Kemp MG.
  TITLE     XPA is susceptible to proteolytic cleavage by cathepsin L during
            lysis of quiescent cells
  JOURNAL   DNA Repair (Amst) 109, 103260 (2022)
   PUBMED   34883264
  REMARK    GeneRIF: XPA is susceptible to proteolytic cleavage by cathepsin L
            during lysis of quiescent cells.
REFERENCE   6  (residues 1 to 333)
  AUTHORS   Goretzki L, Schmitt M, Mann K, Calvete J, Chucholowski N, Kramer M,
            Gunzler WA, Janicke F and Graeff H.
  TITLE     Effective activation of the proenzyme form of the urokinase-type
            plasminogen activator (pro-uPA) by the cysteine protease cathepsin
            L
  JOURNAL   FEBS Lett 297 (1-2), 112-118 (1992)
   PUBMED   1551416
REFERENCE   7  (residues 1 to 333)
  AUTHORS   Cataldo AM, Paskevich PA, Kominami E and Nixon RA.
  TITLE     Lysosomal hydrolases of different classes are abnormally
            distributed in brains of patients with Alzheimer disease
  JOURNAL   Proc Natl Acad Sci U S A 88 (24), 10998-11002 (1991)
   PUBMED   1837142
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1992 Mar 15;89(6):2509]
REFERENCE   8  (residues 1 to 333)
  AUTHORS   Dunn AD, Crutchfield HE and Dunn JT.
  TITLE     Thyroglobulin processing by thyroidal proteases. Major sites of
            cleavage by cathepsins B, D, and L
  JOURNAL   J Biol Chem 266 (30), 20198-20204 (1991)
   PUBMED   1939080
REFERENCE   9  (residues 1 to 333)
  AUTHORS   Stearns NA, Dong JM, Pan JX, Brenner DA and Sahagian GG.
  TITLE     Comparison of cathepsin L synthesized by normal and transformed
            cells at the gene, message, protein, and oligosaccharide levels
  JOURNAL   Arch Biochem Biophys 283 (2), 447-457 (1990)
   PUBMED   2275556
REFERENCE   10 (residues 1 to 333)
  AUTHORS   Smith,C.G., Smith,M.T., Besch,N.F., Smith,R.G. and Asch,R.H.
  TITLE     Effect of delta 9-tetrahydrocannabinol (THC) on female reproductive
            function
  JOURNAL   Adv Biosci 22-23, 449-467 (1978)
   PUBMED   116880
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DN993009.1, AL832167.1,
            BM680778.1 and AL160279.21.
            
            Summary: The protein encoded by this gene is a lysosomal cysteine
            proteinase that plays a major role in intracellular protein
            catabolism. Its substrates include collagen and elastin, as well as
            alpha-1 protease inhibitor, a major controlling element of
            neutrophil elastase activity. The encoded protein has been
            implicated in several pathologic processes, including myofibril
            necrosis in myopathies and in myocardial ischemia, and in the renal
            tubular response to proteinuria. This protein, which is a member of
            the peptidase C1 family, is a dimer composed of disulfide-linked
            heavy and light chains, both produced from a single protein
            precursor. Additionally, this protein cleaves the S1 subunit of the
            SARS-CoV-2 spike protein, which is necessary for entry of the virus
            into the cell. [provided by RefSeq, Aug 2020].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1-4 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X12451.1, SRR3476690.922332.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: involved in SARS-CoV-2 infection
            MANE Ensembl match     :: ENST00000343150.10/ ENSP00000345344.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..333
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.33"
     Protein         1..333
                     /product="procathepsin L isoform 1 preproprotein"
                     /EC_number="3.4.22.15"
                     /note="major excreted protein; cathepsin L1; procathepsin
                     L"
                     /calculated_mol_wt=35876
     sig_peptide     1..17
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1706
     proprotein      18..333
                     /product="cathepsin L1 proprotein"
                     /calculated_mol_wt=35876
     Region          29..87
                     /region_name="Inhibitor_I29"
                     /note="Cathepsin propeptide inhibitor domain (I29);
                     smart00848"
                     /db_xref="CDD:214853"
     Site            106..107
                     /site_type="cleavage"
                     /note="Cleavage, by autolysis.
                     /evidence=ECO:0000269|PubMed:9468501; propagated from
                     UniProtKB/Swiss-Prot (P07711.2)"
     Site            107..108
                     /site_type="cleavage"
                     /note="Cleavage, by autolysis.
                     /evidence=ECO:0000269|PubMed:9468501; propagated from
                     UniProtKB/Swiss-Prot (P07711.2)"
     Site            112..113
                     /site_type="cleavage"
                     /note="Cleavage, by autolysis.
                     /evidence=ECO:0000269|PubMed:9468501; propagated from
                     UniProtKB/Swiss-Prot (P07711.2)"
     Site            113..114
                     /site_type="cleavage"
                     /note="Cleavage, by autolysis.
                     /evidence=ECO:0000269|PubMed:9468501; propagated from
                     UniProtKB/Swiss-Prot (P07711.2)"
     Region          114..332
                     /region_name="Peptidase_C1"
                     /note="Papain family cysteine protease; pfam00112"
                     /db_xref="CDD:425470"
     mat_peptide     114..288
                     /product="cathepsin L1 heavy chain"
                     /calculated_mol_wt=19080
     Site            order(132,138,276,300)
                     /site_type="active"
                     /db_xref="CDD:239068"
     Site            order(182..183,248,274,277,327)
                     /site_type="active"
                     /note="S2 subsite [active]"
                     /db_xref="CDD:239068"
     Site            221
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (P07711.2)"
     mat_peptide     292..333
                     /product="cathepsin L1 light chain"
                     /calculated_mol_wt=4776
     CDS             1..333
                     /gene="CTSL"
                     /gene_synonym="CATL; CTSL1; MEP"
                     /coded_by="NM_001912.5:291..1292"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS6675.1"
                     /db_xref="GeneID:1514"
                     /db_xref="HGNC:HGNC:2537"
                     /db_xref="MIM:116880"
ORIGIN      
        1 mnptlilaaf clgiasatlt fdhsleaqwt kwkamhnrly gmneegwrra vweknmkmie
       61 lhnqeyregk hsftmamnaf gdmtseefrq vmngfqnrkp rkgkvfqepl fyeaprsvdw
      121 rekgyvtpvk nqgqcgscwa fsatgalegq mfrktgrlis lseqnlvdcs gpqgnegcng
      181 glmdyafqyv qdnggldsee sypyeatees ckynpkysva ndtgfvdipk qekalmkava
      241 tvgpisvaid aghesflfyk egiyfepdcs sedmdhgvlv vgygfestes dnnkywlvkn
      301 swgeewgmgg yvkmakdrrn hcgiasaasy ptv
//
LOCUS       NP_001303235             954 aa            linear   PRI 23-MAR-2023
DEFINITION  integrin alpha-6 isoform c [Homo sapiens].
ACCESSION   NP_001303235
VERSION     NP_001303235.1
DBSOURCE    REFSEQ: accession NM_001316306.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 954)
  AUTHORS   Zhang C, Cai Q and Ke J.
  TITLE     Poor Prognosis of Oral Squamous Cell Carcinoma Correlates With
            ITGA6
  JOURNAL   Int Dent J 73 (2), 178-185 (2023)
   PUBMED   35820930
  REMARK    GeneRIF: Poor Prognosis of Oral Squamous Cell Carcinoma Correlates
            With ITGA6.
REFERENCE   2  (residues 1 to 954)
  AUTHORS   Zheng G, Bouamar H, Cserhati M, Zeballos CR, Mehta I, Zare H,
            Broome L, Hu R, Lai Z, Chen Y, Sharkey FE, Rani M, Halff GA,
            Cigarroa FG and Sun LZ.
  TITLE     Integrin alpha 6 is upregulated and drives hepatocellular carcinoma
            progression through integrin alpha6beta4 complex
  JOURNAL   Int J Cancer 151 (6), 930-943 (2022)
   PUBMED   35657344
  REMARK    GeneRIF: Integrin alpha 6 is upregulated and drives hepatocellular
            carcinoma progression through integrin alpha6beta4 complex.
REFERENCE   3  (residues 1 to 954)
  AUTHORS   Hou S, Hao X, Li J, Weng S, Wang J, Zhao T, Li W, Hu X, Deng B, Gu
            J and Hang Q.
  TITLE     TM4SF1 promotes esophageal squamous cell carcinoma metastasis by
            interacting with integrin alpha6
  JOURNAL   Cell Death Dis 13 (7), 609 (2022)
   PUBMED   35835740
  REMARK    GeneRIF: TM4SF1 promotes esophageal squamous cell carcinoma
            metastasis by interacting with integrin alpha6.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 954)
  AUTHORS   Humphries JD, Zha J, Burns J, Askari JA, Below CR, Chastney MR,
            Jones MC, Mironov A, Knight D, O'Reilly DA, Dunne MJ, Garrod DR,
            Jorgensen C and Humphries MJ.
  TITLE     Pancreatic ductal adenocarcinoma cells employ integrin alpha6beta4
            to form hemidesmosomes and regulate cell proliferation
  JOURNAL   Matrix Biol 110, 16-39 (2022)
   PUBMED   35405272
  REMARK    GeneRIF: Pancreatic ductal adenocarcinoma cells employ integrin
            alpha6beta4 to form hemidesmosomes and regulate cell proliferation.
REFERENCE   5  (residues 1 to 954)
  AUTHORS   Stewart RL and O'Connor KL.
  TITLE     Clinical significance of the integrin alpha6beta4 in human
            malignancies
  JOURNAL   Lab Invest 95 (9), 976-986 (2015)
   PUBMED   26121317
  REMARK    Review article
REFERENCE   6  (residues 1 to 954)
  AUTHORS   Lucky,A.W. and Gorell,E.
  TITLE     Epidermolysis Bullosa with Pyloric Atresia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301336
REFERENCE   7  (residues 1 to 954)
  AUTHORS   Starr L and Quaranta V.
  TITLE     An efficient and reliable method for cloning PCR-amplification
            products: a survey of point mutations in integrin cDNA
  JOURNAL   Biotechniques 13 (4), 612-618 (1992)
   PUBMED   1476731
REFERENCE   8  (residues 1 to 954)
  AUTHORS   Tamura RN, Cooper HM, Collo G and Quaranta V.
  TITLE     Cell type-specific integrin variants with alternative alpha chain
            cytoplasmic domains
  JOURNAL   Proc Natl Acad Sci U S A 88 (22), 10183-10187 (1991)
   PUBMED   1946438
REFERENCE   9  (residues 1 to 954)
  AUTHORS   Hogervorst F, Kuikman I, van Kessel AG and Sonnenberg A.
  TITLE     Molecular cloning of the human alpha 6 integrin subunit.
            Alternative splicing of alpha 6 mRNA and chromosomal localization
            of the alpha 6 and beta 4 genes
  JOURNAL   Eur J Biochem 199 (2), 425-433 (1991)
   PUBMED   2070796
REFERENCE   10 (residues 1 to 954)
  AUTHORS   Tamura RN, Rozzo C, Starr L, Chambers J, Reichardt LF, Cooper HM
            and Quaranta V.
  TITLE     Epithelial integrin alpha 6 beta 4: complete primary structure of
            alpha 6 and variant forms of beta 4
  JOURNAL   J Cell Biol 111 (4), 1593-1604 (1990)
   PUBMED   1976638
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC078883.6, AK311695.1,
            AK296496.1, AK294436.1, AB208842.1 and BG180469.1.
            
            Summary: The gene encodes a member of the integrin alpha chain
            family of proteins. Integrins are heterodimeric integral membrane
            proteins composed of an alpha chain and a beta chain that function
            in cell surface adhesion and signaling. The encoded preproprotein
            is proteolytically processed to generate light and heavy chains
            that comprise the alpha 6 subunit. This subunit may associate with
            a beta 1 or beta 4 subunit to form an integrin that interacts with
            extracellular matrix proteins including members of the laminin
            family. The alpha 6 beta 4 integrin may promote tumorigenesis,
            while the alpha 6 beta 1 integrin may negatively regulate
            erbB2/HER2 signaling. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Oct 2015].
            
            Transcript Variant: This variant (3) has multiple differences
            compared to variant 1. The encoded isoform (c) is shorter and has a
            distinct C-terminus compared to isoform a, and lacks the predicted
            signal peptide present in isoforms a and b. It is not known whether
            this isoform (c) is proteolytically processed in the same manner as
            isoforms a and b.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296496.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968968,
                                           SAMEA2142348 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..954
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     Protein         1..954
                     /product="integrin alpha-6 isoform c"
                     /note="integrin alpha6B; CD49 antigen-like family member
                     F; integrin, alpha 6; very late activation protein 6"
                     /calculated_mol_wt=106446
     Region          135..187
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          195..248
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          255..306
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          312..>335
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          345..820
                     /region_name="Integrin_alpha2"
                     /note="Integrin alpha; pfam08441"
                     /db_xref="CDD:430000"
     Region          919..933
                     /region_name="Integrin_alpha"
                     /note="Integrin alpha cytoplasmic region; pfam00357"
                     /db_xref="CDD:395284"
     CDS             1..954
                     /gene="ITGA6"
                     /gene_synonym="CD49f; ITGA6A; ITGA6B; JEB6; VLA-6"
                     /coded_by="NM_001316306.2:296..3160"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS82534.1"
                     /db_xref="GeneID:3655"
                     /db_xref="HGNC:HGNC:6142"
                     /db_xref="MIM:147556"
ORIGIN      
        1 mgvtvqsqgp ggkvvtcahr yekrqhvntk qesrdifgrc yvlsqnlrie ddmdggdwsf
       61 cdgrlrghek fgscqqgvaa tftkdfhyiv fgapgtynwk gllfltsvsy tdpdqfvykt
      121 rppreqpdtf pdvmmnsylg fsldsgkgiv skdeitfvsg apranhsgav vllkrdmksa
      181 hllpehifdg eglassfgyd vavvdlnkdg wqdivigapq yfdrdgevgg avyvymnqqg
      241 rwnnvkpirl ngtkdsmfgi avknigdinq dgypdiavga pyddlgkvfi yhgsangint
      301 kptqvlkgis pyfgysiagn mdldrnsypd vavgslsdsv tifrsrpvin iqktitvtpn
      361 ridlrqktac gapsgiclqv kscfeytanp agynpsisiv gtleaekerr ksglssrvqf
      421 rnqgsepkyt qeltlkrqkq kvcmeetlwl qdnirdklrp ipitasveiq epssrrrvns
      481 lpevlpilns depktahidv hflkegcgdd nvcnsnlkle ykfctregnq dkfsylpiqk
      541 gvpelvlkdq kdialeitvt nspsnprnpt kdgddaheak liatfpdtlt ysayrelraf
      601 pekqlscvan qngsqadcel gnpfkrnsnv tfylvlstte vtfdtpdldi nlklettsnq
      661 dnlapitaka kvvielllsv sgvakpsqvy fggtvvgeqa mksedevgsl ieyefrvinl
      721 gkpltnlgta tlniqwpkei sngkwllylv kveskglekv tcepqkeins lnlteshnsr
      781 kkreitekqi ddnrkfslfa erkyqtlncs vnvncvnirc plrgldskas lilrsrlwns
      841 tfleeyskln yldilmrafi dvtaaaenir lpnagtqvrv tvfpsktvaq ysgvpwwiil
      901 vailagilml allvfilwkc gffkrnkkdh ydatyhkaei haqpsdkerl tsda
//
LOCUS       NP_001397654             403 aa            linear   PRI 23-MAR-2023
DEFINITION  histone deacetylase 8 isoform 7 [Homo sapiens].
ACCESSION   NP_001397654 XP_011529288
VERSION     NP_001397654.1
DBSOURCE    REFSEQ: accession NM_001410725.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 403)
  AUTHORS   Zhou X, Chen H, Shi Y, Li J, Ma X, Du L, Hu Y, Tao M, Zhong Q, Yan
            D, Zhuang S and Liu N.
  TITLE     Histone deacetylase 8 inhibition prevents the progression of
            peritoneal fibrosis by counteracting the epithelial-mesenchymal
            transition and blockade of M2 macrophage polarization
  JOURNAL   Front Immunol 14, 1137332 (2023)
   PUBMED   36911746
  REMARK    GeneRIF: Histone deacetylase 8 inhibition prevents the progression
            of peritoneal fibrosis by counteracting the epithelial-mesenchymal
            transition and blockade of M2 macrophage polarization.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 403)
  AUTHORS   Noce B, Di Bello E, Zwergel C, Fioravanti R, Valente S, Rotili D,
            Masotti A, Salik Zeya Ansari M, Trisciuoglio D, Chakrabarti A,
            Romier C, Robaa D, Sippl W, Jung M, Haberli C, Keiser J and Mai A.
  TITLE     Chemically Diverse S. mansoni HDAC8 Inhibitors Reduce Viability in
            Worm Larval and Adult Stages
  JOURNAL   ChemMedChem 18 (3), e202200510 (2023)
   PUBMED   36250286
  REMARK    GeneRIF: Chemically Diverse S. mansoni HDAC8 Inhibitors Reduce
            Viability in Worm Larval and Adult Stages.
REFERENCE   3  (residues 1 to 403)
  AUTHORS   Vannini A, Volpari C, Filocamo G, Casavola EC, Brunetti M, Renzoni
            D, Chakravarty P, Paolini C, De Francesco R, Gallinari P,
            Steinkuhler C and Di Marco S.
  TITLE     Crystal structure of a eukaryotic zinc-dependent histone
            deacetylase, human HDAC8, complexed with a hydroxamic acid
            inhibitor
  JOURNAL   Proc Natl Acad Sci U S A 101 (42), 15064-15069 (2004)
   PUBMED   15477595
  REMARK    GeneRIF: crystal structure
REFERENCE   4  (residues 1 to 403)
  AUTHORS   Buggy JJ, Sideris ML, Mak P, Lorimer DD, McIntosh B and Clark JM.
  TITLE     Cloning and characterization of a novel human histone deacetylase,
            HDAC8
  JOURNAL   Biochem J 350 Pt 1 (Pt 1), 199-205 (2000)
   PUBMED   10926844
REFERENCE   5  (residues 1 to 403)
  AUTHORS   Van den Wyngaert I, de Vries W, Kremer A, Neefs J, Verhasselt P,
            Luyten WH and Kass SU.
  TITLE     Cloning and characterization of human histone deacetylase 8
  JOURNAL   FEBS Lett 478 (1-2), 77-83 (2000)
   PUBMED   10922473
REFERENCE   6  (residues 1 to 403)
  AUTHORS   Hu E, Chen Z, Fredrickson T, Zhu Y, Kirkpatrick R, Zhang GF,
            Johanson K, Sung CM, Liu R and Winkler J.
  TITLE     Cloning and characterization of a novel human class I histone
            deacetylase that functions as a transcription repressor
  JOURNAL   J Biol Chem 275 (20), 15254-15264 (2000)
   PUBMED   10748112
REFERENCE   7  (residues 1 to 403)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
REFERENCE   8  (residues 1 to 403)
  AUTHORS   Deardorff,M.A., Noon,S.E. and Krantz,I.D.
  TITLE     Cornelia de Lange Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301283
REFERENCE   9  (residues 1 to 403)
  AUTHORS   Mulley JC, Kerr B, Stevenson R and Lubs H.
  TITLE     Nomenclature guidelines for X-linked mental retardation
  JOURNAL   Am J Med Genet 43 (1-2), 383-391 (1992)
   PUBMED   1605216
  REMARK    Review article
REFERENCE   10 (residues 1 to 403)
  AUTHORS   Wilson M, Mulley J, Gedeon A, Robinson H and Turner G.
  TITLE     New X-linked syndrome of mental retardation, gynecomastia, and
            obesity is linked to DXS255
  JOURNAL   Am J Med Genet 40 (4), 406-413 (1991)
   PUBMED   1746601
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX295542.1 and AL133500.4.
            On Aug 15, 2022 this sequence version replaced XP_011529288.3.
            
            Summary: Histones play a critical role in transcriptional
            regulation, cell cycle progression, and developmental events.
            Histone acetylation/deacetylation alters chromosome structure and
            affects transcription factor access to DNA. The protein encoded by
            this gene belongs to class I of the histone deacetylase family. It
            catalyzes the deacetylation of lysine residues in the histone
            N-terminal tails and represses transcription in large multiprotein
            complexes with transcriptional co-repressors. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.270512.1,
                                           SRR14038191.370159.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..403
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     Protein         1..403
                     /product="histone deacetylase 8 isoform 7"
                     /EC_number="3.5.1.98"
                     /note="histone deacetylase-like 1; protein deacetylase
                     HDAC8; protein decrotonylase HDAC8"
                     /calculated_mol_wt=44542
     Region          14..324
                     /region_name="Histone deacetylase"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BY41.2)"
     Region          16..371
                     /region_name="HDAC8"
                     /note="Histone deacetylase 8 (HDAC8); cd10000"
                     /db_xref="CDD:212524"
     Site            39
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15242608; propagated from
                     UniProtKB/Swiss-Prot (Q9BY41.2)"
     Site            order(100..101,141..143,151..152,178,180,208,267,274,304,
                     306)
                     /site_type="active"
                     /db_xref="CDD:212524"
     Site            order(178,180,267)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:212524"
     CDS             1..403
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /coded_by="NM_001410725.1:83..1294"
                     /note="isoform 7 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS94633.1"
                     /db_xref="GeneID:55869"
                     /db_xref="HGNC:HGNC:13315"
                     /db_xref="MIM:300269"
ORIGIN      
        1 meepeepads gqslvpvyiy speyvsmcds lakipkrasm vhslieayal hkqmrivkpk
       61 vasmeematf htdaylqhlq kvsqegdddh pdsieyglgy dcpategifd yaaaiggati
      121 taaqclidgm ckvainwsgg whhakkdeas gfcylndavl gilrlrrkfe rilyvdldlh
      181 hgdgvedafs ftskvmtvsl hkfspgffpg tgdvsdvglg kgryysvnvp iqdgiqdeky
      241 yqicesvlke vyqafnpkav vlqlgadtia gdpmcsfnmt pvgigkclky ilqwqlatli
      301 lggggynlan tarcwtyltg vilgktlsse ipdhefftay gpdyvleitp scrpdrneph
      361 riqqilnyik ekwpvgfgaq cfylgkcgka kttegqrnlk hvv
//
LOCUS       NP_001382152              79 aa            linear   PRI 24-MAR-2023
DEFINITION  uncharacterized protein C17orf114 [Homo sapiens].
ACCESSION   NP_001382152
VERSION     NP_001382152.1
DBSOURCE    REFSEQ: accession NM_001395223.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC233723.2.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000635921.2/ ENSP00000490255.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..79
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     Protein         1..79
                     /product="uncharacterized protein C17orf114"
                     /calculated_mol_wt=8161
     Region          20..52
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot
                     (A0A1B0GUV1.1)"
     CDS             1..79
                     /gene="C17orf114"
                     /coded_by="NM_001395223.2:10..249"
                     /db_xref="CCDS:CCDS92230.1"
                     /db_xref="GeneID:119139905"
                     /db_xref="HGNC:HGNC:55343"
ORIGIN      
        1 mglkgawcfp wcgcrrqrgt ergaglspaa ppdpspaiap tmaeggvpsp gpgayfsrka
       61 rlsfrhqlhd iasandsti
//
LOCUS       NP_631905                381 aa            linear   PRI 25-MAR-2023
DEFINITION  actin-binding Rho-activating protein [Homo sapiens].
ACCESSION   NP_631905
VERSION     NP_631905.1
DBSOURCE    REFSEQ: accession NM_139166.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 381)
  AUTHORS   Li B, Zhan Y, Liang Q, Xu C, Zhou X, Cai H, Zheng Y, Guo Y, Wang L,
            Qiu W, Cui B, Lu C, Qian R, Zhou P, Chen H, Liu Y, Chen S, Li X and
            Sun N.
  TITLE     Isogenic human pluripotent stem cell disease models reveal ABRA
            deficiency underlies cTnT mutation-induced familial dilated
            cardiomyopathy
  JOURNAL   Protein Cell 13 (1), 65-71 (2022)
   PUBMED   33884582
  REMARK    GeneRIF: Isogenic human pluripotent stem cell disease models reveal
            ABRA deficiency underlies cTnT mutation-induced familial dilated
            cardiomyopathy.
REFERENCE   2  (residues 1 to 381)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 381)
  AUTHORS   Reitzner SM, Norrbom J, Sundberg CJ and Gidlund EK.
  TITLE     Expression of striated activator of rho-signaling in human skeletal
            muscle following acute exercise and long-term training
  JOURNAL   Physiol Rep 6 (5) (2018)
   PUBMED   29504288
  REMARK    GeneRIF: STARS expression is acutely upregulated following
            exercise, but there is no cumulative effect to long-term training.
REFERENCE   4  (residues 1 to 381)
  AUTHORS   Russell AP, Wallace MA, Kalanon M, Zacharewicz E, Della Gatta PA,
            Garnham A and Lamon S.
  TITLE     Striated muscle activator of Rho signalling (STARS) is reduced in
            ageing human skeletal muscle and targeted by miR-628-5p
  JOURNAL   Acta Physiol (Oxf) 220 (2), 263-274 (2017)
   PUBMED   27739650
  REMARK    GeneRIF: we established that miR-628-5p, a miRNA regulated by age
            and exercise, binds to the STARS 3'UTR to directly downregulate its
            transcription
REFERENCE   5  (residues 1 to 381)
  AUTHORS   Furuya Y, Denda M, Sakane K, Ogusu T, Takahashi S, Magari M,
            Kanayama N, Morishita R and Tokumitsu H.
  TITLE     Identification of striated muscle activator of Rho signaling
            (STARS) as a novel calmodulin target by a newly developed
            genome-wide screen
  JOURNAL   Cell Calcium 60 (1), 32-40 (2016)
   PUBMED   27132186
  REMARK    GeneRIF: These results suggest a connection between
            Ca(2+)-signaling via excitation-contraction coupling and the
            regulation of STARS-mediated gene expression in muscles.
REFERENCE   6  (residues 1 to 381)
  AUTHORS   Lamon S, Wallace MA, Leger B and Russell AP.
  TITLE     Regulation of STARS and its downstream targets suggest a novel
            pathway involved in human skeletal muscle hypertrophy and atrophy
  JOURNAL   J Physiol 587 (Pt 8), 1795-1803 (2009)
   PUBMED   19255118
  REMARK    GeneRIF: STARS signalling pathway is responsive to changes in
            skeletal muscle loading and appears to play a role in both human
            skeletal muscle hypertrophy and atrophy
REFERENCE   7  (residues 1 to 381)
  AUTHORS   Kuwahara K, Teg Pipes GC, McAnally J, Richardson JA, Hill JA,
            Bassel-Duby R and Olson EN.
  TITLE     Modulation of adverse cardiac remodeling by STARS, a mediator of
            MEF2 signaling and SRF activity
  JOURNAL   J Clin Invest 117 (5), 1324-1334 (2007)
   PUBMED   17415416
  REMARK    GeneRIF: Modulates the responsiveness of the heart to stress
            signaling by functioning as a cytoskeletal intermediary between
            human and transgenic myocyte enhancer factor-2 and serum response
            factor.
REFERENCE   8  (residues 1 to 381)
  AUTHORS   Kuwahara K, Barrientos T, Pipes GC, Li S and Olson EN.
  TITLE     Muscle-specific signaling mechanism that links actin dynamics to
            serum response factor
  JOURNAL   Mol Cell Biol 25 (8), 3173-3181 (2005)
   PUBMED   15798203
  REMARK    GeneRIF: STARS activates serum response factor by inducing the
            nuclear translocation of myocardin-related transcription factors .
REFERENCE   9  (residues 1 to 381)
  AUTHORS   Arai A, Spencer JA and Olson EN.
  TITLE     STARS, a striated muscle activator of Rho signaling and serum
            response factor-dependent transcription
  JOURNAL   J Biol Chem 277 (27), 24453-24459 (2002)
   PUBMED   11983702
REFERENCE   10 (residues 1 to 381)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL832152.1 and BC105103.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL832152.1, AL833422.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311955.4/ ENSP00000311436.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..381
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q23.1"
     Protein         1..381
                     /product="actin-binding Rho-activating protein"
                     /note="striated muscle activator of Rho-dependent
                     signaling"
                     /calculated_mol_wt=42986
     Region          39..156
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Z2.1)"
     Region          <59..156
                     /region_name="Joubert"
                     /note="Joubert syndrome-associated; pfam15392"
                     /db_xref="CDD:405971"
     Site            156
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K4K7; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Z2.1)"
     Region          179..207
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Z2.1)"
     Site            188
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K4K7; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Z2.1)"
     Region          199..299
                     /region_name="Actin-binding 1. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Z2.1)"
     Region          240..285
                     /region_name="Interaction with actin.
                     /evidence=ECO:0000250|UniProtKB:Q8BUZ1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Z2.1)"
     Region          300..381
                     /region_name="Actin-binding 2. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Z2.1)"
     Region          305..379
                     /region_name="Costars"
                     /note="pfam14705"
                     /db_xref="CDD:405405"
     Region          352..381
                     /region_name="Interaction with actin.
                     /evidence=ECO:0000250|UniProtKB:Q8BUZ1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Z2.1)"
     CDS             1..381
                     /gene="ABRA"
                     /gene_synonym="STARS"
                     /coded_by="NM_139166.5:55..1200"
                     /db_xref="CCDS:CCDS6305.1"
                     /db_xref="GeneID:137735"
                     /db_xref="HGNC:HGNC:30655"
                     /db_xref="MIM:609747"
ORIGIN      
        1 mapgekesge gpaksalrki rtatlvisla rgwqqwanen sirqaqeptg wlpggtqdsp
       61 qapkpitppt shqkaqsapk spprlpeghg dgqssekape vshikkkevs ktvvsktyer
      121 ggdvshlshr yerdagvlep gqpendidri lhshgsptrr rkcanlvsel tkgwrvmeqe
      181 eptwrsdsvd tedsgyggea eerpeqdgvq vavvrikrpl psqvnrftek lnckaqqkys
      241 pvgnlkgrwq qwadehiqsq klnpfseefd yelamstrlh kgdegygrpk egtktaerak
      301 raeehiyrem mdmcfiictm arhrrdgkiq vtfgdlfdry vrisdkvvgi lmrarkhglv
      361 dfegemlwqg rddhvvitll k
//
LOCUS       NP_001352300             622 aa            linear   PRI 25-MAR-2023
DEFINITION  golgin subfamily A member 6-like protein 7 [Homo sapiens].
ACCESSION   NP_001352300
VERSION     NP_001352300.1
DBSOURCE    REFSEQ: accession NM_001365371.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC055876.16.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2161674 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000567390.7/ ENSP00000490318.1
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..622
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.1"
     Protein         1..622
                     /product="golgin subfamily A member 6-like protein 7"
                     /note="golgi autoantigen, golgin subfamily a, 6-like 7
                     (pseudogene); golgin A6 family-like 9 pseudogene; golgin
                     A6 family-like 7, pseudogene"
                     /calculated_mol_wt=75453
     Region          1..82
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot
                     (A0A1B0GV03.1)"
     Region          <114..>544
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          251..496
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot
                     (A0A1B0GV03.1)"
     Region          511..580
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot
                     (A0A1B0GV03.1)"
     Region          576..613
                     /region_name="GM130_C"
                     /note="GM130 C-terminal binding motif; pfam19046"
                     /db_xref="CDD:436918"
     CDS             1..622
                     /gene="GOLGA6L7"
                     /gene_synonym="GOLGA6L7P"
                     /coded_by="NM_001365371.2:96..1964"
                     /db_xref="CCDS:CCDS91969.1"
                     /db_xref="GeneID:728310"
                     /db_xref="HGNC:HGNC:37442"
ORIGIN      
        1 mmsektqqrk lagtkkkftd yhqwnsagvg tgatdtkkkk inhganpett tsggchsped
       61 kqqnraqlke enkashqhqq alrrqleaqd htirilmcqk teletalhds qdaarkfeed
      121 skdlaarlhh swhfagelqr alsamsaehe radkyikelt kereamslel frniitnkel
      181 keknaelqek lrlvetekse iqlhikelkr kletdkiplp qvqtntlqek mwrqeeelrd
      241 qeelrdqekl rkheekmwrq eqrlrdqeke lreqeqqmqe qeeqmrkqee qmrkqeeqmr
      301 kqeeqmrkqe eqmrkqeeqm rkqeeqmgkq eeqmgeqeeq mrkqekqmlk qkeqmrkqee
      361 qmwkqeeqig eqeeqmrkqe eqmwkqeeqi geqeeqmrkq eeqmwkqeeq mgeqmrkqee
      421 qmgeqeeqir kqeeqmgeqe eqmrkqeeqm geqeeqmrkq eeqmgeqeeq mrkqeeqmge
      481 qeeqmgeqee qmrkqverlq fkeerlwdey ekmqeeeeki rrqvekrrek kermgeqekt
      541 qeercsepcl ppskypsdms hpgslepare agkgyshdnr taqimqlppg mknaqerpgl
      601 gstscipffy ggdkkkikii si
//
LOCUS       NP_001072998             223 aa            linear   PRI 25-MAR-2023
DEFINITION  cryptic family protein 1B precursor [Homo sapiens].
ACCESSION   NP_001072998 XP_933708 XP_938083
VERSION     NP_001072998.1
DBSOURCE    REFSEQ: accession NM_001079530.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 223)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC013269.10, BQ777283.1, BU784123.1 and BM716751.1.
            On or before Dec 3, 2006 this sequence version replaced
            XP_933708.1, XP_938083.1.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2154405,
                              SAMEA2157511 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000281882.8/ ENSP00000281882.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..223
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.1"
     Protein         1..223
                     /product="cryptic family protein 1B precursor"
                     /note="cryptic family protein 1B"
                     /calculated_mol_wt=21740
     sig_peptide     1..25
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2920
     Site            52
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P0CG36.1)"
     Region          <91..115
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Region          123..157
                     /region_name="CFC"
                     /note="Cripto_Frl-1_Cryptic (CFC); pfam09443"
                     /db_xref="CDD:430615"
     CDS             1..223
                     /gene="CFC1B"
                     /coded_by="NM_001079530.2:264..935"
                     /db_xref="CCDS:CCDS33286.1"
                     /db_xref="GeneID:653275"
                     /db_xref="HGNC:HGNC:33983"
ORIGIN      
        1 mtwrhhvrll ftvslalqii nlgnsyqrek hnggreevtk vatqkhrqsp lnwtsshfge
       61 vtgsaegwgp eeplpyswaf gegasarprc crnggtcvlg sfcvcpahft grycehdqrr
      121 secgalehga wtlrachlcr cifgalhclp lqtpdrcdpk dflashahgp saggapslll
      181 llpcallhrl lrpdapahpr slvpsvlqre rrpcgrpglg hrl
//
LOCUS       NP_001135952              68 aa            linear   PRI 28-MAR-2023
DEFINITION  neuronal regeneration-related protein isoform a [Homo sapiens].
ACCESSION   NP_001135952
VERSION     NP_001135952.1
DBSOURCE    REFSEQ: accession NM_001142480.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 68)
  AUTHORS   Chen C, Tang Y, Zhu X, Yang J, Liu Z, Chen Y, Wang J, Shang R,
            Zheng W, Zhang X, Hu X, Tan J, Zhou J, Peng S, Lu Q, Ju Z, Luo G
            and He W.
  TITLE     P311 Promotes IL-4 Receptor-Mediated M2 Polarization of Macrophages
            to Enhance Angiogenesis for Efficient Skin Wound Healing
  JOURNAL   J Invest Dermatol 143 (4), 648-660 (2023)
   PUBMED   36309321
  REMARK    GeneRIF: P311 Promotes IL-4 Receptor-Mediated M2 Polarization of
            Macrophages to Enhance Angiogenesis for Efficient Skin Wound
            Healing.
REFERENCE   2  (residues 1 to 68)
  AUTHORS   Duan FF, Barron G, Meliton A, Mutlu GM, Dulin NO and Schuger L.
  TITLE     P311 Promotes Lung Fibrosis via Stimulation of Transforming Growth
            Factor-beta1, -beta2, and -beta3 Translation
  JOURNAL   Am J Respir Cell Mol Biol 60 (2), 221-231 (2019)
   PUBMED   30230348
  REMARK    GeneRIF: P311 expression in the in the lungs of patients with
            idiopathic pulmonary fibrosis.
REFERENCE   3  (residues 1 to 68)
  AUTHORS   Yao Z, Li H, He W, Yang S, Zhang X, Zhan R, Xu R, Tan J, Zhou J, Wu
            J and Luo G.
  TITLE     P311 Accelerates Skin Wound Reepithelialization by Promoting
            Epidermal Stem Cell Migration Through RhoA and Rac1 Activation
  JOURNAL   Stem Cells Dev 26 (6), 451-460 (2017)
   PUBMED   27927130
  REMARK    GeneRIF: P311 could accelerate skin wound reepithelialization by
            promoting the migration of Epidermal Stem Cell through RhoA and
            Rac1 activation.
REFERENCE   4  (residues 1 to 68)
  AUTHORS   Cheng T, Yue M, Aslam MN, Wang X, Shekhawat G, Varani J and Schuger
            L.
  TITLE     Neuronal Protein 3.1 Deficiency Leads to Reduced Cutaneous Scar
            Collagen Deposition and Tensile Strength due to Impaired
            Transforming Growth Factor-beta1 to -beta3 Translation
  JOURNAL   Am J Pathol 187 (2), 292-303 (2017)
   PUBMED   27939132
  REMARK    GeneRIF: These studies demonstrate that P311 is required for the
            production of normal cutaneous scars
REFERENCE   5  (residues 1 to 68)
  AUTHORS   Li H, Yao Z, He W, Gao H, Bai Y, Yang S, Zhang L, Zhan R, Tan J,
            Zhou J, Takata M, Wu J and Luo G.
  TITLE     P311 induces the transdifferentiation of epidermal stem cells to
            myofibroblast-like cells by stimulating transforming growth factor
            beta1 expression
  JOURNAL   Stem Cell Res Ther 7 (1), 175 (2016)
   PUBMED   27906099
  REMARK    GeneRIF: P311 is a novel TGFbeta1/Smad signaling-mediated regulator
            of transdifferentiation in epidermal stem cells during cutaneous
            wound healing.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 68)
  AUTHORS   Fujitani M, Yamagishi S, Che YH, Hata K, Kubo T, Ino H, Tohyama M
            and Yamashita T.
  TITLE     P311 accelerates nerve regeneration of the axotomized facial nerve
  JOURNAL   J Neurochem 91 (3), 737-744 (2004)
   PUBMED   15485502
REFERENCE   7  (residues 1 to 68)
  AUTHORS   Pan D, Zhe X, Jakkaraju S, Taylor GA and Schuger L.
  TITLE     P311 induces a TGF-beta1-independent, nonfibrogenic myofibroblast
            phenotype
  JOURNAL   J Clin Invest 110 (9), 1349-1358 (2002)
   PUBMED   12417574
  REMARK    GeneRIF: role for P311 in inducing TGF-beta1-independent
            myofibroblast transformation
REFERENCE   8  (residues 1 to 68)
  AUTHORS   Miura N and Naganuma A.
  TITLE     Metallothionein mediates gene expression of 3.1 mRNA (PTZ17)
            related to epileptic seizure
  JOURNAL   FEBS Lett 479 (3), 146-148 (2000)
   PUBMED   10981724
REFERENCE   9  (residues 1 to 68)
  AUTHORS   Taylor GA, Hudson E, Resau JH and Vande Woude GF.
  TITLE     Regulation of P311 expression by Met-hepatocyte growth
            factor/scatter factor and the ubiquitin/proteasome system
  JOURNAL   J Biol Chem 275 (6), 4215-4219 (2000)
   PUBMED   10660586
REFERENCE   10 (residues 1 to 68)
  AUTHORS   Studler JM, Glowinski J and Levi-Strauss M.
  TITLE     An abundant mRNA of the embryonic brain persists at a high level in
            cerebellum, hippocampus and olfactory bulb during adulthood
  JOURNAL   Eur J Neurosci 5 (6), 614-623 (1993)
   PUBMED   8261136
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA704824.1, DA744980.1 and AC022108.4.
            
            Transcript Variant: This variant (8) differs in the 5' UTR,
            compared to variant 1. Variants 1, 4, 5, 6, 7, 8, 9, 10, and 11
            encode the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.73581.1,
                                           SRR1660805.138123.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267751, SAMN03267752
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..68
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.1"
     Protein         1..68
                     /product="neuronal regeneration-related protein isoform a"
                     /note="neuronal protein 3.1; protein p311; neuronal
                     regeneration related protein homolog"
                     /calculated_mol_wt=7778
     Region          2..68
                     /region_name="Alveol-reg_P311"
                     /note="Neuronal protein 3.1 (p311); pfam11092"
                     /db_xref="CDD:431650"
     Region          22..54
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16612.1)"
     Site            59
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:16229809; propagated from
                     UniProtKB/Swiss-Prot (Q16612.1)"
     CDS             1..68
                     /gene="NREP"
                     /gene_synonym="C5orf13; D4S114; P311; PRO1873; PTZ17;
                     SEZ17"
                     /coded_by="NM_001142480.1:275..481"
                     /note="isoform a is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS4105.1"
                     /db_xref="GeneID:9315"
                     /db_xref="HGNC:HGNC:16834"
                     /db_xref="MIM:607332"
ORIGIN      
        1 mvyypelfvw vsqepfpnkd megrlpkgrl pvpkevnrkk ndetnaaslt plgsselrsp
       61 risylhff
//
LOCUS       NP_001400692             334 aa            linear   PRI 03-APR-2023
DEFINITION  ETS domain-containing protein Elk-3 isoform 4 [Homo sapiens].
ACCESSION   NP_001400692
VERSION     NP_001400692.1
DBSOURCE    REFSEQ: accession NM_001413763.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 334)
  AUTHORS   Jung HY, Lee DK, Lee M, Choi SH, Park JD, Ko ES, Lee J, Park KS and
            Jung HY.
  TITLE     ELK3-CXCL16 axis determines natural killer cell cytotoxicity via
            the chemotactic activity of CXCL16 in triple negative breast cancer
  JOURNAL   Oncoimmunology 12 (1), 2190671 (2023)
   PUBMED   36950218
  REMARK    GeneRIF: ELK3-CXCL16 axis determines natural killer cell
            cytotoxicity via the chemotactic activity of CXCL16 in triple
            negative breast cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 334)
  AUTHORS   Yang Y, Cao L, Guo Z, Gu H, Zhang K and Qiu Z.
  TITLE     Deubiquitinase UCHL5 stabilizes ELK3 to potentiate cancer stemness
            and tumor progression in pancreatic adenocarcinoma (PAAD)
  JOURNAL   Exp Cell Res 421 (2), 113402 (2022)
   PUBMED   36328194
  REMARK    GeneRIF: Deubiquitinase UCHL5 stabilizes ELK3 to potentiate cancer
            stemness and tumor progression in pancreatic adenocarcinoma (PAAD).
REFERENCE   3  (residues 1 to 334)
  AUTHORS   Wu D, Liu J, Yu L, Wu S and Qiu X.
  TITLE     Circular RNA hsa_circ_0000144 aggravates ovarian Cancer progression
            by regulating ELK3 via sponging miR-610
  JOURNAL   J Ovarian Res 15 (1), 113 (2022)
   PUBMED   36243865
  REMARK    GeneRIF: Circular RNA hsa_circ_0000144 aggravates ovarian Cancer
            progression by regulating ELK3 via sponging miR-610.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 334)
  AUTHORS   Xu H, Zhang L, Gao J, Wang J, Wang Y, Xiao D and Chai S.
  TITLE     Molecular and clinical features of a potential immunotherapy target
            ELK3 in glioma
  JOURNAL   Medicine (Baltimore) 101 (30), e29544 (2022)
   PUBMED   35905257
  REMARK    GeneRIF: Molecular and clinical features of a potential
            immunotherapy target ELK3 in glioma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 334)
  AUTHORS   Lee M, Cho HJ, Park KS and Jung HY.
  TITLE     ELK3 Controls Gastric Cancer Cell Migration and Invasion by
            Regulating ECM Remodeling-Related Genes
  JOURNAL   Int J Mol Sci 23 (7), 3709 (2022)
   PUBMED   35409069
  REMARK    GeneRIF: ELK3 Controls Gastric Cancer Cell Migration and Invasion
            by Regulating ECM Remodeling-Related Genes.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 334)
  AUTHORS   Sharrocks AD, Brown AL, Ling Y and Yates PR.
  TITLE     The ETS-domain transcription factor family
  JOURNAL   Int J Biochem Cell Biol 29 (12), 1371-1387 (1997)
   PUBMED   9570133
  REMARK    Review article
REFERENCE   7  (residues 1 to 334)
  AUTHORS   Maira SM, Wurtz JM and Wasylyk B.
  TITLE     Net (ERP/SAP2) one of the Ras-inducible TCFs, has a novel
            inhibitory domain with resemblance to the helix-loop-helix motif
  JOURNAL   EMBO J 15 (21), 5849-5865 (1996)
   PUBMED   8918463
REFERENCE   8  (residues 1 to 334)
  AUTHORS   Price MA, Rogers AE and Treisman R.
  TITLE     Comparative analysis of the ternary complex factors Elk-1, SAP-1a
            and SAP-2 (ERP/NET)
  JOURNAL   EMBO J 14 (11), 2589-2601 (1995)
   PUBMED   7540136
REFERENCE   9  (residues 1 to 334)
  AUTHORS   Shipley J, Sheer D, Dalton S, Treisman R and Patel K.
  TITLE     Mapping of the human SAP1 (SRF accessory protein 1) gene and SAP2,
            a gene encoding a related protein, to chromosomal bands 1q32 and
            12q23, respectively
  JOURNAL   Genomics 23 (3), 710-711 (1994)
   PUBMED   7851904
REFERENCE   10 (residues 1 to 334)
  AUTHORS   Giovane A, Pintzas A, Maira SM, Sobieszczuk P and Wasylyk B.
  TITLE     Net, a new ets transcription factor that is activated by Ras
  JOURNAL   Genes Dev 8 (13), 1502-1513 (1994)
   PUBMED   7958835
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008149.14.
            
            Summary: This gene encodes a member of the ETS-domain transcription
            factor family and the ternary complex factor (TCF) subfamily.
            Proteins in this subfamily regulate transcription when recruited by
            serum response factor to bind to serum response elements. This
            protein is activated by signal-induced phosphorylation; studies in
            rodents suggest that it is a transcriptional inhibitor in the
            absence of Ras, but activates transcription when Ras is present.
            Alternate splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1967229.1,
                                           SRR14038193.2012533.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2149178
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..334
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     Protein         1..334
                     /product="ETS domain-containing protein Elk-3 isoform 4"
                     /note="SRF accessory protein 2; ETS domain-containing
                     protein Elk-3; ETS-related protein ERP; ETS-related
                     protein NET; serum response factor accessory protein 2;
                     ELK3, ETS-domain protein (SRF accessory protein 2); ELK3,
                     ETS transcription factor"
                     /calculated_mol_wt=36658
     Region          19..88
                     /region_name="ETS"
                     /note="erythroblast transformation specific domain;
                     smart00413"
                     /db_xref="CDD:197710"
     Site            115
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (P41970.2)"
     CDS             1..334
                     /gene="ELK3"
                     /gene_synonym="ERP; NET; SAP-2; SAP2"
                     /coded_by="NM_001413763.1:334..1338"
                     /note="isoform 4 is encoded by transcript variant 6"
                     /db_xref="GeneID:2004"
                     /db_xref="HGNC:HGNC:3325"
                     /db_xref="MIM:600247"
ORIGIN      
        1 mesaitlwqf llqllldqkh ehlicwtsnd gefkllkaee vaklwglrkn ktnmnydkls
       61 ralryyydkn iikkvigqkf vykfvsfpei lkmdphavei sreslllqds dckaspegre
      121 ahkhglaalr stsrneyihs glyssftins lqnppdafka iktekleepp edsppveevr
      181 tvirslflea achdsdslep lnlssgsktk spslppkakk pkgleisapp lvlsgtdigs
      241 ialnspalps gsltpaffta qtpngllltp spllssihfw sslspvapls parlqgpstl
      301 fqfptllngh mpvpipsldr aaspvllssn sqks
//
LOCUS       NP_001420               2414 aa            linear   PRI 03-APR-2023
DEFINITION  histone acetyltransferase p300 isoform 1 [Homo sapiens].
ACCESSION   NP_001420
VERSION     NP_001420.2
DBSOURCE    REFSEQ: accession NM_001429.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2414)
  AUTHORS   Zeng Q, Wang K, Zhao Y, Ma Q, Chen Z and Huang W.
  TITLE     Effects of the Acetyltransferase p300 on Tumour Regulation from the
            Novel Perspective of Posttranslational Protein Modification
  JOURNAL   Biomolecules 13 (3), 417 (2023)
   PUBMED   36979352
  REMARK    GeneRIF: Effects of the Acetyltransferase p300 on Tumour Regulation
            from the Novel Perspective of Posttranslational Protein
            Modification.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 2414)
  AUTHORS   Gorski PA, Lee A, Lee P, Oh JG, Vangheluwe P, Ishikawa K, Hajjar R
            and Kho C.
  TITLE     Identification and Characterization of p300-Mediated Lysine
            Residues in Cardiac SERCA2a
  JOURNAL   Int J Mol Sci 24 (4), 3502 (2023)
   PUBMED   36834924
  REMARK    GeneRIF: Identification and Characterization of p300-Mediated
            Lysine Residues in Cardiac SERCA2a.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 2414)
  AUTHORS   Meng J, Han J, Wang X, Wu T, Zhang H, An H, Qin L, Sun Y, Zhong W,
            Yang C, Liu H and Sun T.
  TITLE     Twist1-YY1-p300 complex promotes the malignant progression of HCC
            through activation of miR-9 by forming phase-separated condensates
            at super-enhancers and relieved by metformin
  JOURNAL   Pharmacol Res 188, 106661 (2023)
   PUBMED   36669583
  REMARK    GeneRIF: Twist1-YY1-p300 complex promotes the malignant progression
            of HCC through activation of miR-9 by forming phase-separated
            condensates at super-enhancers and relieved by metformin.
REFERENCE   4  (residues 1 to 2414)
  AUTHORS   Di Pietrantonio N, Di Tomo P, Mandatori D, Formoso G and Pandolfi
            A.
  TITLE     Diabetes and Its Cardiovascular Complications: Potential Role of
            the Acetyltransferase p300
  JOURNAL   Cells 12 (3), 431 (2023)
   PUBMED   36766773
  REMARK    GeneRIF: Diabetes and Its Cardiovascular Complications: Potential
            Role of the Acetyltransferase p300.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 2414)
  AUTHORS   Luo M, Zhang Y, Xu Z, Lv S, Wei Q and Dang Q.
  TITLE     Experimental analysis of bladder cancer-associated mutations in
            EP300 identifies EP300-R1627W as a driver mutation
  JOURNAL   Mol Med 29 (1), 7 (2023)
   PUBMED   36647005
  REMARK    GeneRIF: Experimental analysis of bladder cancer-associated
            mutations in EP300 identifies EP300-R1627W as a driver mutation.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 2414)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   7  (residues 1 to 2414)
  AUTHORS   Lundblad JR, Kwok RP, Laurance ME, Harter ML and Goodman RH.
  TITLE     Adenoviral E1A-associated protein p300 as a functional homologue of
            the transcriptional co-activator CBP
  JOURNAL   Nature 374 (6517), 85-88 (1995)
   PUBMED   7870179
REFERENCE   8  (residues 1 to 2414)
  AUTHORS   Eckner R, Ewen ME, Newsome D, Gerdes M, DeCaprio JA, Lawrence JB
            and Livingston DM.
  TITLE     Molecular cloning and functional analysis of the adenovirus
            E1A-associated 300-kD protein (p300) reveals a protein with
            properties of a transcriptional adaptor
  JOURNAL   Genes Dev 8 (8), 869-884 (1994)
   PUBMED   7523245
REFERENCE   9  (residues 1 to 2414)
  AUTHORS   Stevens,C.A.
  TITLE     Rubinstein-Taybi Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301699
REFERENCE   10 (residues 1 to 2414)
  AUTHORS   Dyson N, Guida P, Munger K and Harlow E.
  TITLE     Homologous sequences in adenovirus E1A and human papillomavirus E7
            proteins mediate interaction with the same set of cellular proteins
  JOURNAL   J Virol 66 (12), 6893-6902 (1992)
   PUBMED   1331501
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL080243.21, CN278277.1,
            BC053889.1, DB047746.1, CN278282.1, U01877.1, AL035658.7 and
            N57495.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 16, 2004 this sequence version replaced NP_001420.1.
            
            Summary: This gene encodes the adenovirus E1A-associated cellular
            p300 transcriptional co-activator protein. It functions as histone
            acetyltransferase that regulates transcription via chromatin
            remodeling and is important in the processes of cell proliferation
            and differentiation. It mediates cAMP-gene regulation by binding
            specifically to phosphorylated CREB protein. This gene has also
            been identified as a co-activator of HIF1A (hypoxia-inducible
            factor 1 alpha), and thus plays a role in the stimulation of
            hypoxia-induced genes such as VEGF. Defects in this gene are a
            cause of Rubinstein-Taybi syndrome and may also play a role in
            epithelial cancer. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U01877.1, SRR11853559.22209.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263253.9/ ENSP00000263253.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2414
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     Protein         1..2414
                     /product="histone acetyltransferase p300 isoform 1"
                     /EC_number="2.3.1.48"
                     /note="E1A-binding protein, 300kD; histone
                     acetyltransferase p300; E1A-associated protein p300; p300
                     HAT; histone butyryltransferase p300; histone
                     crotonyltransferase p300; protein propionyltransferase
                     p300; protein 2-hydroxyisobutyryltransferase p300; protein
                     lactyltransferas p300"
                     /calculated_mol_wt=264031
     Region          1..29
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Region          2..149
                     /region_name="Interaction with RORA.
                     /evidence=ECO:0000269|PubMed:9862959"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Region          2..139
                     /region_name="Interaction with ALX1.
                     /evidence=ECO:0000269|PubMed:12929931"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Region          11..17
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Site            31..32
                     /site_type="other"
                     /note="Breakpoint for translocation to form KAT6A-EP300
                     and EP300-KAT6A; propagated from UniProtKB/Swiss-Prot
                     (Q09472.2)"
     Region          88..>318
                     /region_name="Med15"
                     /note="ARC105 or Med15 subunit of Mediator complex
                     non-fungal; pfam09606"
                     /db_xref="CDD:312941"
     Site            89
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by AMPK.
                     /evidence=ECO:0000269|PubMed:11518699,
                     ECO:0000269|PubMed:16574662; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Region          133..157
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Region          196..235
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Region          347..414
                     /region_name="zf-TAZ"
                     /note="TAZ zinc finger; pfam02135"
                     /db_xref="CDD:426615"
     Site            418
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18995842; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            423
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18995842; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Region          482..518
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Site            499
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B2RWS6; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Region          566..646
                     /region_name="KIX"
                     /note="KIX domain; pfam02172"
                     /db_xref="CDD:366953"
     Site            580
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, by CARM1.
                     /evidence=ECO:0000269|PubMed:11701890; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            604
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, by CARM1.
                     /evidence=ECO:0000269|PubMed:11701890; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            636
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Region          <648..>854
                     /region_name="Med15"
                     /note="ARC105 or Med15 subunit of Mediator complex
                     non-fungal; pfam09606"
                     /db_xref="CDD:312941"
     Region          729..1050
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Region          961..>1064
                     /region_name="TonB"
                     /note="Periplasmic protein TonB, links inner and outer
                     membranes [Cell wall/membrane/envelope biogenesis];
                     COG0810"
                     /db_xref="CDD:223880"
     Site            977
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Region          1017..1029
                     /region_name="CRD1, mediates transcriptional repression"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1020
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:15632193; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1024
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:15632193; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1038
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Region          1051..1158
                     /region_name="Bromo_cbp_like"
                     /note="Bromodomain, cbp_like subfamily. Cbp (CREB binding
                     protein or CREBBP) is an acetyltransferase acting on
                     histone, which gives a specific tag for transcriptional
                     activation and also acetylates non-histone proteins.
                     CREBBP binds specifically to...; cd05495"
                     /db_xref="CDD:99927"
     Site            order(1079,1086,1089,1128,1132,1138)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99927"
     Region          1170..1242
                     /region_name="RING_CBP-p300"
                     /note="atypical RING domain found in CREB-binding protein
                     and p300 histone acetyltransferases; cd15802"
                     /db_xref="CDD:276805"
     Site            order(1170,1173..1174,1240,1242)
                     /site_type="other"
                     /note="HAT interface [polypeptide binding]"
                     /db_xref="CDD:276805"
     Site            1180
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:B2RWS6; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Region          1243..1277
                     /region_name="PHD_p300"
                     /note="PHD finger found in histone acetyltransferase p300;
                     cd15646"
                     /db_xref="CDD:277116"
     Site            order(1243..1247,1251,1270)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277116"
     Region          1306..1612
                     /region_name="HAT_KAT11"
                     /note="Histone acetylation protein; pfam08214"
                     /db_xref="CDD:400497"
     Site            1336
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:17065153; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Region          1397..1399
                     /region_name="Interaction with histone.
                     /evidence=ECO:0000269|PubMed:18273021"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1473
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:17065153; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1499
                     /site_type="acetylation"
                     /note="N6-acetyllysine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:15004546; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Region          1520..1578
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1542
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18995842,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1546
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18995842,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1549
                     /site_type="acetylation"
                     /note="N6-acetyllysine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:15004546,
                     ECO:0000269|PubMed:18995842; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1554
                     /site_type="acetylation"
                     /note="N6-acetyllysine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:15004546,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1555
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1558
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:15004546,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1560
                     /site_type="acetylation"
                     /note="N6-acetyllysine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:15004546,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Region          1572..1818
                     /region_name="Binding region for E1A adenovirus"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1583
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Region          1668..1708
                     /region_name="ZZ_CBP"
                     /note="Zinc finger, ZZ type. Zinc finger present in
                     CBP/p300 and related proteins. The ZZ motif coordinates
                     two zinc ions and most likely participates in ligand
                     binding or molecular scaffolding. CREB-binding protein
                     (CBP) is a large multidomain protein that...; cd02337"
                     /db_xref="CDD:239077"
     Site            order(1670,1673,1683,1686,1692,1695,1701,1703)
                     /site_type="other"
                     /note="Zinc-binding sites [ion binding]"
                     /db_xref="CDD:239077"
     Site            order(1670,1673,1692,1695)
                     /site_type="other"
                     /note="zinc cluster 1 [ion binding]"
                     /db_xref="CDD:239077"
     Site            order(1671,1680,1682,1688,1690)
                     /site_type="active"
                     /note="putative charged binding surface [active]"
                     /db_xref="CDD:239077"
     Site            order(1681,1696,1705,1708)
                     /site_type="active"
                     /note="putative hydrophobic binding surface [active]"
                     /db_xref="CDD:239077"
     Site            order(1683,1686,1701,1703)
                     /site_type="other"
                     /note="zinc cluster 2 [ion binding]"
                     /db_xref="CDD:239077"
     Site            1699
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18995842; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1704
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18995842; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1707
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18995842; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            1726
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Region          1735..1803
                     /region_name="zf-TAZ"
                     /note="TAZ zinc finger; pfam02135"
                     /db_xref="CDD:426615"
     Region          1833..1924
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Region          1980..2010
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Region          1984..>2408
                     /region_name="Med15"
                     /note="ARC105 or Med15 subunit of Mediator complex
                     non-fungal; pfam09606"
                     /db_xref="CDD:312941"
     Region          1992..2098
                     /region_name="Creb_binding"
                     /note="Creb binding; pfam09030"
                     /db_xref="CDD:430376"
     Region          2003..2212
                     /region_name="Interaction with HTLV-1 Tax"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Region          2041..2240
                     /region_name="Interaction with NCOA2.
                     /evidence=ECO:0000269|PubMed:15731352"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Site            2088
                     /site_type="other"
                     /note="Interaction with NCOA2; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Region          2094..2163
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Site            2142
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, by CARM1, alternate.
                     /evidence=ECO:0000269|PubMed:15731352; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Site            2142
                     /site_type="other"
                     /note="Interaction with NCOA2; propagated from
                     UniProtKB/Swiss-Prot (Q09472.2)"
     Region          2186..2237
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     Region          2267..2385
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09472.2)"
     CDS             1..2414
                     /gene="EP300"
                     /gene_synonym="KAT3B; MKHK2; p300; RSTS2"
                     /coded_by="NM_001429.4:414..7658"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS14010.1"
                     /db_xref="GeneID:2033"
                     /db_xref="HGNC:HGNC:3373"
                     /db_xref="MIM:602700"
ORIGIN      
        1 maenvvepgp psakrpklss palsasasdg tdfgslfdle hdlpdelins telgltnggd
       61 inqlqtslgm vqdaaskhkq lsellrsgss pnlnmgvggp gqvmasqaqq sspglglins
      121 mvkspmtqag ltspnmgmgt sgpnqgptqs tgmmnspvnq pamgmntgmn agmnpgmlaa
      181 gngqgimpnq vmngsigagr grqnmqypnp gmgsagnllt eplqqgspqm ggqtglrgpq
      241 plkmgmmnnp npygspytqn pgqqigasgl glqiqtktvl snnlspfamd kkavpgggmp
      301 nmgqqpapqv qqpglvtpva qgmgsgahta dpekrkliqq qlvlllhahk cqrreqange
      361 vrqcnlphcr tmknvlnhmt hcqsgkscqv ahcassrqii shwknctrhd cpvclplkna
      421 gdkrnqqpil tgapvglgnp sslgvgqqsa pnlstvsqid pssierayaa lglpyqvnqm
      481 ptqpqvqakn qqnqqpgqsp qgmrpmsnms aspmgvnggv gvqtpsllsd smlhsainsq
      541 npmmsenasv pslgpmptaa qpsttgirkq wheditqdlr nhlvhklvqa ifptpdpaal
      601 kdrrmenlva yarkvegdmy esannraeyy hllaekiyki qkeleekrrt rlqkqnmlpn
      661 aagmvpvsmn pgpnmgqpqp gmtsngplpd psmirgsvpn qmmpritpqs glnqfgqmsm
      721 aqppivprqt pplqhhgqla qpgalnppmg ygprmqqpsn qgqflpqtqf psqgmnvtni
      781 plapssgqap vsqaqmssss cpvnspimpp gsqgshihcp qlpqpalhqn spspvpsrtp
      841 tphhtppsig aqqppattip apvptppamp pgpqsqalhp pprqtptppt tqlpqqvqps
      901 lpaapsadqp qqqprsqqst aasvptptap llppqpatpl sqpavsiegq vsnppstsst
      961 evnsqaiaek qpsqevkmea kmevdqpepa dtqpedises kvedckmest eteerstelk
     1021 teikeeedqp stsatqsspa pgqskkkifk peelrqalmp tlealyrqdp eslpfrqpvd
     1081 pqllgipdyf divkspmdls tikrkldtgq yqepwqyvdd iwlmfnnawl ynrktsrvyk
     1141 ycsklsevfe qeidpvmqsl gyccgrklef spqtlccygk qlctiprdat yysyqnryhf
     1201 cekcfneiqg esvslgddps qpqttinkeq fskrkndtld pelfvectec grkmhqicvl
     1261 hheiiwpagf vcdgclkksa rtrkenkfsa krlpstrlgt flenrvndfl rrqnhpesge
     1321 vtvrvvhasd ktvevkpgmk arfvdsgema esfpyrtkal fafeeidgvd lcffgmhvqe
     1381 ygsdcpppnq rrvyisylds vhffrpkclr tavyheilig yleyvkklgy ttghiwacpp
     1441 segddyifhc hppdqkipkp krlqewykkm ldkavseriv hdykdifkqa tedrltsake
     1501 lpyfegdfwp nvleesikel eqeeeerkre entsnestdv tkgdsknakk knnkktsknk
     1561 sslsrgnkkk pgmpnvsndl sqklyatmek hkevffvirl iagpaanslp pivdpdplip
     1621 cdlmdgrdaf ltlardkhle fsslrraqws tmcmlvelht qsqdrfvytc neckhhvetr
     1681 whctvcedyd lcitcyntkn hdhkmeklgl glddesnnqq aaatqspgds rrlsiqrciq
     1741 slvhacqcrn ancslpscqk mkrvvqhtkg ckrktnggcp ickqlialcc yhakhcqenk
     1801 cpvpfclnik qklrqqqlqh rlqqaqmlrr rmasmqrtgv vgqqqglpsp tpatpttptg
     1861 qqpttpqtpq ptsqpqptpp nsmppylprt qaagpvsqgk aagqvtpptp pqtaqpplpg
     1921 pppaavemam qiqraaetqr qmahvqifqr piqhqmppmt pmapmgmnpp pmtrgpsghl
     1981 epgmgptgmq qqppwsqggl pqpqqlqsgm prpammsvaq hgqplnmapq pglgqvgisp
     2041 lkpgtvsqqa lqnllrtlrs pssplqqqqv lsilhanpql laafikqraa kyansnpqpi
     2101 pgqpgmpqgq pglqpptmpg qqgvhsnpam qnmnpmqagv qraglpqqqp qqqlqppmgg
     2161 mspqaqqmnm nhntmpsqfr dilrrqqmmq qqqqqgagpg igpgmanhnq fqqpqgvgyp
     2221 pqqqqrmqhh mqqmqqgnmg qigqlpqalg aeagaslqay qqrllqqqmg spvqpnpmsp
     2281 qqhmlpnqaq sphlqgqqip nslsnqvrsp qpvpsprpqs qpphsspspr mqpqpsphhv
     2341 spqtssphpg lvaaqanpme qghfaspdqn smlsqlasnp gmanlhgasa tdlglstdns
     2401 dlnsnlsqst ldih
//
LOCUS       NP_001400693             256 aa            linear   PRI 03-APR-2023
DEFINITION  ETS domain-containing protein Elk-3 isoform 5 [Homo sapiens].
ACCESSION   NP_001400693
VERSION     NP_001400693.1
DBSOURCE    REFSEQ: accession NM_001413764.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 256)
  AUTHORS   Jung HY, Lee DK, Lee M, Choi SH, Park JD, Ko ES, Lee J, Park KS and
            Jung HY.
  TITLE     ELK3-CXCL16 axis determines natural killer cell cytotoxicity via
            the chemotactic activity of CXCL16 in triple negative breast cancer
  JOURNAL   Oncoimmunology 12 (1), 2190671 (2023)
   PUBMED   36950218
  REMARK    GeneRIF: ELK3-CXCL16 axis determines natural killer cell
            cytotoxicity via the chemotactic activity of CXCL16 in triple
            negative breast cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 256)
  AUTHORS   Yang Y, Cao L, Guo Z, Gu H, Zhang K and Qiu Z.
  TITLE     Deubiquitinase UCHL5 stabilizes ELK3 to potentiate cancer stemness
            and tumor progression in pancreatic adenocarcinoma (PAAD)
  JOURNAL   Exp Cell Res 421 (2), 113402 (2022)
   PUBMED   36328194
  REMARK    GeneRIF: Deubiquitinase UCHL5 stabilizes ELK3 to potentiate cancer
            stemness and tumor progression in pancreatic adenocarcinoma (PAAD).
REFERENCE   3  (residues 1 to 256)
  AUTHORS   Wu D, Liu J, Yu L, Wu S and Qiu X.
  TITLE     Circular RNA hsa_circ_0000144 aggravates ovarian Cancer progression
            by regulating ELK3 via sponging miR-610
  JOURNAL   J Ovarian Res 15 (1), 113 (2022)
   PUBMED   36243865
  REMARK    GeneRIF: Circular RNA hsa_circ_0000144 aggravates ovarian Cancer
            progression by regulating ELK3 via sponging miR-610.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 256)
  AUTHORS   Xu H, Zhang L, Gao J, Wang J, Wang Y, Xiao D and Chai S.
  TITLE     Molecular and clinical features of a potential immunotherapy target
            ELK3 in glioma
  JOURNAL   Medicine (Baltimore) 101 (30), e29544 (2022)
   PUBMED   35905257
  REMARK    GeneRIF: Molecular and clinical features of a potential
            immunotherapy target ELK3 in glioma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 256)
  AUTHORS   Lee M, Cho HJ, Park KS and Jung HY.
  TITLE     ELK3 Controls Gastric Cancer Cell Migration and Invasion by
            Regulating ECM Remodeling-Related Genes
  JOURNAL   Int J Mol Sci 23 (7), 3709 (2022)
   PUBMED   35409069
  REMARK    GeneRIF: ELK3 Controls Gastric Cancer Cell Migration and Invasion
            by Regulating ECM Remodeling-Related Genes.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 256)
  AUTHORS   Sharrocks AD, Brown AL, Ling Y and Yates PR.
  TITLE     The ETS-domain transcription factor family
  JOURNAL   Int J Biochem Cell Biol 29 (12), 1371-1387 (1997)
   PUBMED   9570133
  REMARK    Review article
REFERENCE   7  (residues 1 to 256)
  AUTHORS   Maira SM, Wurtz JM and Wasylyk B.
  TITLE     Net (ERP/SAP2) one of the Ras-inducible TCFs, has a novel
            inhibitory domain with resemblance to the helix-loop-helix motif
  JOURNAL   EMBO J 15 (21), 5849-5865 (1996)
   PUBMED   8918463
REFERENCE   8  (residues 1 to 256)
  AUTHORS   Price MA, Rogers AE and Treisman R.
  TITLE     Comparative analysis of the ternary complex factors Elk-1, SAP-1a
            and SAP-2 (ERP/NET)
  JOURNAL   EMBO J 14 (11), 2589-2601 (1995)
   PUBMED   7540136
REFERENCE   9  (residues 1 to 256)
  AUTHORS   Shipley J, Sheer D, Dalton S, Treisman R and Patel K.
  TITLE     Mapping of the human SAP1 (SRF accessory protein 1) gene and SAP2,
            a gene encoding a related protein, to chromosomal bands 1q32 and
            12q23, respectively
  JOURNAL   Genomics 23 (3), 710-711 (1994)
   PUBMED   7851904
REFERENCE   10 (residues 1 to 256)
  AUTHORS   Giovane A, Pintzas A, Maira SM, Sobieszczuk P and Wasylyk B.
  TITLE     Net, a new ets transcription factor that is activated by Ras
  JOURNAL   Genes Dev 8 (13), 1502-1513 (1994)
   PUBMED   7958835
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008149.14.
            
            Summary: This gene encodes a member of the ETS-domain transcription
            factor family and the ternary complex factor (TCF) subfamily.
            Proteins in this subfamily regulate transcription when recruited by
            serum response factor to bind to serum response elements. This
            protein is activated by signal-induced phosphorylation; studies in
            rodents suggest that it is a transcriptional inhibitor in the
            absence of Ras, but activates transcription when Ras is present.
            Alternate splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.929644.1,
                                           SRR14038194.1774895.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..256
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     Protein         1..256
                     /product="ETS domain-containing protein Elk-3 isoform 5"
                     /note="SRF accessory protein 2; ETS domain-containing
                     protein Elk-3; ETS-related protein ERP; ETS-related
                     protein NET; serum response factor accessory protein 2;
                     ELK3, ETS-domain protein (SRF accessory protein 2); ELK3,
                     ETS transcription factor"
                     /calculated_mol_wt=26535
     CDS             1..256
                     /gene="ELK3"
                     /gene_synonym="ERP; NET; SAP-2; SAP2"
                     /coded_by="NM_001413764.1:422..1192"
                     /note="isoform 5 is encoded by transcript variant 7"
                     /db_xref="GeneID:2004"
                     /db_xref="HGNC:HGNC:3325"
                     /db_xref="MIM:600247"
ORIGIN      
        1 mnppdafkai ktekleeppe dsppveevrt virfvtnktd khvtrpvvsl pstseaaaas
       61 aflassvsak isslmlpnaa sissaspfss rspslspnsp lpsehrslfl eaachdsdsl
      121 eplnlssgsk tkspslppka kkpkgleisa pplvlsgtdi gsialnspal psgsltpaff
      181 taqtpnglll tpspllssih fwsslspvap lsparlqgps tlfqfptlln ghmpvpipsl
      241 draaspvlls snsqks
//
LOCUS       NP_001394375            2871 aa            linear   PRI 11-APR-2023
DEFINITION  adenomatous polyposis coli protein isoform n [Homo sapiens].
ACCESSION   NP_001394375
VERSION     NP_001394375.1
DBSOURCE    REFSEQ: accession NM_001407446.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2871)
  AUTHORS   Guo L, Dou Y, Xiang Y, Luo L, Xu X, Wang Q, Zhang Y and Liang T.
  TITLE     Systematic analysis of cancer-specific synthetic lethal
            interactions provides insight into personalized anticancer therapy
  JOURNAL   FEBS J 290 (6), 1531-1548 (2023)
   PUBMED   36181326
REFERENCE   2  (residues 1 to 2871)
  AUTHORS   Panyarat C, Nakornchai S, Chintakanon K, Leelaadisorn N, Intachai
            W, Olsen B, Tongsima S, Adisornkanj P, Ngamphiw C, Cox TC and
            Kantaputra P.
  TITLE     Rare Genetic Variants in Human APC Are Implicated in Mesiodens and
            Isolated Supernumerary Teeth
  JOURNAL   Int J Mol Sci 24 (5), 4255 (2023)
   PUBMED   36901686
  REMARK    GeneRIF: Rare Genetic Variants in Human APC Are Implicated in
            Mesiodens and Isolated Supernumerary Teeth.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 2871)
  AUTHORS   Peng X, Zhang T, Jia X, Wang T, Lin H, Li G, Li R and Zhang A.
  TITLE     Impact of a haplotype (composed of the APC, KRAS, and TP53 genes)
            on colorectal adenocarcinoma differentiation and patient prognosis
  JOURNAL   Cancer Genet 268-269, 115-123 (2022)
   PUBMED   36288643
  REMARK    GeneRIF: Impact of a haplotype (composed of the APC, KRAS, and TP53
            genes) on colorectal adenocarcinoma differentiation and patient
            prognosis.
REFERENCE   4  (residues 1 to 2871)
  AUTHORS   Lambertz S and Ballhausen WG.
  TITLE     Identification of an alternative 5' untranslated region of the
            adenomatous polyposis coli gene
  JOURNAL   Hum Genet 90 (6), 650-652 (1993)
   PUBMED   8383094
REFERENCE   5  (residues 1 to 2871)
  AUTHORS   Yen,T., Stanich,P.P., Axell,L. and Patel,S.G.
  TITLE     APC-Associated Polyposis Conditions
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301519
REFERENCE   6  (residues 1 to 2871)
  AUTHORS   Nakatsuru S, Yanagisawa A, Ichii S, Tahara E, Kato Y, Nakamura Y
            and Horii A.
  TITLE     Somatic mutation of the APC gene in gastric cancer: frequent
            mutations in very well differentiated adenocarcinoma and
            signet-ring cell carcinoma
  JOURNAL   Hum Mol Genet 1 (8), 559-563 (1992)
   PUBMED   1338691
REFERENCE   7  (residues 1 to 2871)
  AUTHORS   Miki Y, Nishisho I, Horii A, Miyoshi Y, Utsunomiya J, Kinzler KW,
            Vogelstein B and Nakamura Y.
  TITLE     Disruption of the APC gene by a retrotransposal insertion of L1
            sequence in a colon cancer
  JOURNAL   Cancer Res 52 (3), 643-645 (1992)
   PUBMED   1310068
REFERENCE   8  (residues 1 to 2871)
  AUTHORS   Nagase H, Miyoshi Y, Horii A, Aoki T, Petersen GM, Vogelstein B,
            Maher E, Ogawa M, Maruyama M, Utsunomiya J et al.
  TITLE     Screening for germ-line mutations in familial adenomatous polyposis
            patients: 61 new patients and a summary of 150 unrelated patients
  JOURNAL   Hum Mutat 1 (6), 467-473 (1992)
   PUBMED   1338764
REFERENCE   9  (residues 1 to 2871)
  AUTHORS   Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama
            K, Utsunomiya J, Baba S and Hedge P.
  TITLE     Mutations of chromosome 5q21 genes in FAP and colorectal cancer
            patients
  JOURNAL   Science 253 (5020), 665-669 (1991)
   PUBMED   1651563
REFERENCE   10 (residues 1 to 2871)
  AUTHORS   Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB,
            Smith KJ, Preisinger AC, Hedge P, McKechnie D et al.
  TITLE     Identification of FAP locus genes from chromosome 5q21
  JOURNAL   Science 253 (5020), 661-665 (1991)
   PUBMED   1651562
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC136500.1 and AC008575.7.
            
            Summary: This gene encodes a tumor suppressor protein that acts as
            an antagonist of the Wnt signaling pathway. It is also involved in
            other processes including cell migration and adhesion,
            transcriptional activation, and apoptosis. Defects in this gene
            cause familial adenomatous polyposis (FAP), an autosomal dominant
            pre-malignant disease that usually progresses to malignancy.
            Mutations in the APC gene have been found to occur in most
            colorectal cancers, where disease-associated mutations tend to be
            clustered in a small region designated the mutation cluster region
            (MCR) and result in a truncated protein product. [provided by
            RefSeq, Jun 2022].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.3496861.1,
                                           SRR14038194.867857.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2871
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.2"
     Protein         1..2871
                     /product="adenomatous polyposis coli protein isoform n"
                     /note="adenomatous polyposis coli protein; WNT signaling
                     pathway regulator; adenomatosis polyposis coli tumor
                     suppressor; deleted in polyposis 2.5; protein phosphatase
                     1, regulatory subunit 46; adenomatous polyposis coli
                     (APC); epididymis secretory sperm binding protein; APC,
                     WNT signaling pathway regulator"
                     /calculated_mol_wt=313790
     Region          137..217
                     /region_name="Suppressor_APC"
                     /note="Adenomatous polyposis coli tumor suppressor
                     protein; pfam11414"
                     /db_xref="CDD:431875"
     Region          350..402
                     /region_name="ARM"
                     /note="Armadillo/beta-catenin-like repeats; smart00185"
                     /db_xref="CDD:214547"
     Region          403..476
                     /region_name="APC_rep"
                     /note="Adenomatous polyposis coli (APC) repeat; pfam18797"
                     /db_xref="CDD:436744"
     Region          500..536
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          540..581
                     /region_name="ARM"
                     /note="Armadillo/beta-catenin-like repeats; smart00185"
                     /db_xref="CDD:214547"
     Region          544..581
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          591..623
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Site            order(614,618,622,661,665,669,706,710,714)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          631..672
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          677..717
                     /region_name="ARM"
                     /note="Armadillo/beta-catenin-like repeats; smart00185"
                     /db_xref="CDD:214547"
     Region          681..715
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          719..759
                     /region_name="Arm"
                     /note="Armadillo/beta-catenin-like repeat; pfam00514"
                     /db_xref="CDD:425727"
     Region          723..759
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          760..1047
                     /region_name="Arm_APC_u3"
                     /note="Armadillo-associated region on APC; pfam16629"
                     /db_xref="CDD:435476"
     Region          1064..1163
                     /region_name="APC_u5"
                     /note="Unstructured region on APC between 1st and 2nd
                     catenin-bdg motifs; pfam16630"
                     /db_xref="CDD:406923"
     Region          1285..>1302
                     /region_name="APC_r"
                     /note="APC repeat; pfam05923"
                     /db_xref="CDD:399133"
     Region          1311..1396
                     /region_name="APC_u9"
                     /note="Unstructured region on APC between 1st two
                     creatine-rich regions; pfam16633"
                     /db_xref="CDD:435478"
     Region          <1319..1729
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     Region          1665..1688
                     /region_name="APC_r"
                     /note="APC repeat; pfam05923"
                     /db_xref="CDD:399133"
     Region          1690..1743
                     /region_name="APC_u13"
                     /note="Unstructured region on APC between APC_crr and
                     SAMP; pfam16634"
                     /db_xref="CDD:406927"
     Region          1744..1765
                     /region_name="SAMP"
                     /note="SAMP Motif; pfam05924"
                     /db_xref="CDD:428675"
     Region          1774..1867
                     /region_name="APC_u14"
                     /note="Unstructured region on APC between SAMP and
                     APC_crr; pfam16635"
                     /db_xref="CDD:435479"
     Region          1901..1975
                     /region_name="APC_u15"
                     /note="Unstructured region on APC between APC_crr regions
                     5 and 6; pfam16636"
                     /db_xref="CDD:435480"
     Region          2061..2080
                     /region_name="SAMP"
                     /note="SAMP Motif; pfam05924"
                     /db_xref="CDD:428675"
     Region          2251..2596
                     /region_name="APC_basic"
                     /note="APC basic domain; pfam05956"
                     /db_xref="CDD:428690"
     Region          2698..2871
                     /region_name="EB1_binding"
                     /note="EB-1 Binding Domain; pfam05937"
                     /db_xref="CDD:399141"
     CDS             1..2871
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /coded_by="NM_001407446.1:221..8836"
                     /note="isoform n is encoded by transcript variant 16"
                     /db_xref="GeneID:324"
                     /db_xref="HGNC:HGNC:583"
                     /db_xref="MIM:611731"
ORIGIN      
        1 myaslgsgpv aplpasvpps vlgswstggs rscvrqetks pggartsghw asvwqevlkq
       61 lqgsiedeam assgqidlle rlkelnldss nfpgvklrsk mslrsygsre gsvssrsgec
      121 spvpmgsfpr rgfvngsres tgyleeleke rsllladldk eekekdwyya qlqnltkrid
      181 slpltenfsl qtdmtrrqle yearqirvam eeqlgtcqdm ekraqrriar iqqiekdilr
      241 irqllqsqat eaerssqnkh etgshdaerq negqgvgein matsgngqgs ttrmdhetas
      301 vlssssthsa prrltshlgt kvemvyslls mlgthdkddm srtllamsss qdscismrqs
      361 gclplliqll hgndkdsvll gnsrgskear arasaalhni ihsqpddkrg rreirvlhll
      421 eqiraycetc wewqeahepg mdqdknpmpa pvehqicpav cvlmklsfde ehrhamnelg
      481 rkatrgissq elgqglsggl qaiaellqvd cemygltndh ysitlrryag maltnltfgd
      541 vankatlcsm kgcmralvaq lksesedlqq viasvlrnls wradvnskkt lrevgsvkal
      601 mecalevkke stlksvlsal wnlsahcten kadicavdga laflvgtlty rsqtntlaii
      661 esgggilrnv ssliatnedh rqilrenncl qtllqhlksh sltivsnacg tlwnlsarnp
      721 kdqealwdmg avsmlknlih skhkmiamgs aaalrnlman rpakykdani mspgsslpsl
      781 hvrkqkalea eldaqhlset fdnidnlspk ashrskqrhk qslygdyvfd tnrhddnrsd
      841 nfntgnmtvl spylnttvlp sssssrgsld ssrsekdrsl erergiglgn yhpatenpgt
      901 sskrglqist taaqiakvme evsaihtsqe drssgsttel hcvtdernal rrssaahths
      961 ntynftksen snrtcsmpya kleykrssnd slnsvsssdg ygkrgqmkps iesyseddes
     1021 kfcsygqypa dlahkihsan hmddndgeld tpinyslkys deqlnsgrqs psqnerwarp
     1081 khiiedeikq seqrqsrnqs ttypvytest ddkhlkfqph fgqqecvspy rsrgangset
     1141 nrvgsnhgin qnvsqslcqe ddyeddkptn yseryseeeq heeeerptny sikyneekrh
     1201 vdqpidyslk yatdipssqk qsfsfsksss gqssktehms sssentstps snakrqnqlh
     1261 pssaqsrsgq pqkaatckvs sinqetiqty cvedtpicfs rcsslsslss aedeigcnqt
     1321 tqeadsantl qiaeikekig trsaedpvse vpavsqhprt kssrlqgssl ssesarhkav
     1381 efssgaksps ksgaqtpksp pehyvqetpl mfsrctsvss ldsfesrsia ssvqsepcsg
     1441 mvsgiispsd lpdspgqtmp psrsktpppp pqtaqtkrev pknkaptaek resgpkqaav
     1501 naavqrvqvl pdadtllhfa testpdgfsc ssslsalsld epfiqkdvel rimppvqend
     1561 ngneteseqp kesnenqeke aektidsekd llddsddddi eileeciisa mptkssrkak
     1621 kpaqtasklp ppvarkpsql pvykllpsqn rlqpqkhvsf tpgddmprvy cvegtpinfs
     1681 tatslsdlti esppnelaag egvrggaqsg efekrdtipt egrstdeaqg gktssvtipe
     1741 lddnkaeegd ilaecinsam pkgkshkpfr vkkimdqvqq asasssapnk nqldgkkkkp
     1801 tspvkpipqn teyrtrvrkn adsknnlnae rvfsdnkdsk kqnlknnskv fndklpnned
     1861 rvrgsfafds phhytpiegt pycfsrndsl ssldfddddv dlsrekaelr kakenkesea
     1921 kvtshtelts nqqsanktqa iakqpinrgq pkpilqkqst fpqsskdipd rgaatdeklq
     1981 nfaientpvc fshnsslssl sdidqennnk enepiketep pdsqgepskp qasgyapksf
     2041 hvedtpvcfs rnsslsslsi dseddllqec issampkkkk psrlkgdnek hsprnmggil
     2101 gedltldlkd iqrpdsehgl spdsenfdwk aiqegansiv sslhqaaaaa clsrqassds
     2161 dsilslksgi slgspfhltp dqeekpftsn kgprilkpge kstletkkie seskgikggk
     2221 kvykslitgk vrsnseisgq mkqplqanmp sisrgrtmih ipgvrnssss tspvskkgpp
     2281 lktpasksps egqtattspr gakpsvksel spvarqtsqi ggsskapsrs gsrdstpsrp
     2341 aqqplsrpiq spgrnsispg rngisppnkl sqlprtssps tastkssgsg kmsytspgrq
     2401 msqqnltkqt glsknassip rsesaskgln qmnngngank kvelsrmsst kssgsesdrs
     2461 erpvlvrqst fikeapsptl rrkleesasf eslspssrpa sptrsqaqtp vlspslpdms
     2521 lsthssvqag gwrklppnls ptieyndgrp akrhdiarsh sespsrlpin rsgtwkrehs
     2581 khssslprvs twrrtgssss ilsassesse kaksedekhv nsisgtkqsk enqvsakgtw
     2641 rkikenefsp tnstsqtvss gatngaeskt liyqmapavs ktedvwvrie dcpinnprsg
     2701 rsptgntppv idsvsekanp nikdskdnqa kqnvgngsvp mrtvglenrl nsfiqvdapd
     2761 qkgteikpgq nnpvpvsetn essivertpf sssssskhss psgtvaarvt pfnynpsprk
     2821 ssadstsarp sqiptpvnnn tkkrdsktds tessgtqspk rhsgsylvts v
//
LOCUS       NP_001158887             274 aa            linear   PRI 13-APR-2023
DEFINITION  L-lactate dehydrogenase A chain isoform 4 [Homo sapiens].
ACCESSION   NP_001158887
VERSION     NP_001158887.1
DBSOURCE    REFSEQ: accession NM_001165415.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 274)
  AUTHORS   Ge W, Meng L, Cao S, Hou C, Zhu X, Huang D, Li Q, Peng Y and Jiang
            K.
  TITLE     The SIX1/LDHA Axis Promotes Lactate Accumulation and Leads to NK
            Cell Dysfunction in Pancreatic Cancer
  JOURNAL   J Immunol Res 2023, 6891636 (2023)
   PUBMED   36937004
  REMARK    GeneRIF: The SIX1/LDHA Axis Promotes Lactate Accumulation and Leads
            to NK Cell Dysfunction in Pancreatic Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 274)
  AUTHORS   Lv Y, Tang W, Xu Y, Chang W, Zhang Z, Lin Q, Ji M, Feng Q, He G and
            Xu J.
  TITLE     Apolipoprotein L3 enhances CD8+ T cell antitumor immunity of
            colorectal cancer by promoting LDHA-mediated ferroptosis
  JOURNAL   Int J Biol Sci 19 (4), 1284-1298 (2023)
   PUBMED   36923931
  REMARK    GeneRIF: Apolipoprotein L3 enhances CD8+ T cell antitumor immunity
            of colorectal cancer by promoting LDHA-mediated ferroptosis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 274)
  AUTHORS   Han J, Chen X, Wang J and Liu B.
  TITLE     Glycolysis-related lncRNA TMEM105 upregulates LDHA to facilitate
            breast cancer liver metastasis via sponging miR-1208
  JOURNAL   Cell Death Dis 14 (2), 80 (2023)
   PUBMED   36737428
  REMARK    GeneRIF: Glycolysis-related lncRNA TMEM105 upregulates LDHA to
            facilitate breast cancer liver metastasis via sponging miR-1208.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 274)
  AUTHORS   Li H, Huang Q, Guo H, Chen X, Li X and Qiu M.
  TITLE     Circular RNA, circular RARS, promotes aerobic glycolysis of
            non-small-cell lung cancer by binding with LDHA
  JOURNAL   Thorac Cancer 14 (4), 389-398 (2023)
   PUBMED   36628612
  REMARK    GeneRIF: Circular RNA, circular RARS, promotes aerobic glycolysis
            of non-small-cell lung cancer by binding with LDHA.
REFERENCE   5  (residues 1 to 274)
  AUTHORS   Zhu Y, Wu F, Hu J, Xu Y, Zhang J, Li Y, Lin Y and Liu X.
  TITLE     LDHA deficiency inhibits trophoblast proliferation via the
            PI3K/AKT/FOXO1/CyclinD1 signaling pathway in unexplained recurrent
            spontaneous abortion
  JOURNAL   FASEB J 37 (2), e22744 (2023)
   PUBMED   36583693
  REMARK    GeneRIF: LDHA deficiency inhibits trophoblast proliferation via the
            PI3K/AKT/FOXO1/CyclinD1 signaling pathway in unexplained recurrent
            spontaneous abortion.
REFERENCE   6  (residues 1 to 274)
  AUTHORS   Miyajima H, Shimizu T and Kaneko E.
  TITLE     [Gene expression in lactate dehydrogenase-A subunit deficiency]
  JOURNAL   Rinsho Shinkeigaku 32 (10), 1087-1092 (1992)
   PUBMED   1297552
REFERENCE   7  (residues 1 to 274)
  AUTHORS   Sudo K, Maekawa M, Shioya M, Ikeda K, Takahashi N, Isogai Y, Li SS,
            Kanno T, Machida K and Toriumi J.
  TITLE     Molecular analysis of genetic mutation in electrophoretic variant
            of human lactate dehydrogenase-A(M) subunit
  JOURNAL   Biochem Int 27 (6), 1051-1057 (1992)
   PUBMED   1445373
REFERENCE   8  (residues 1 to 274)
  AUTHORS   Maekawa M, Sudo K, Li SS and Kanno T.
  TITLE     Genotypic analysis of families with lactate dehydrogenase A (M)
            deficiency by selective DNA amplification
  JOURNAL   Hum Genet 88 (1), 34-38 (1991)
   PUBMED   1959923
REFERENCE   9  (residues 1 to 274)
  AUTHORS   Maekawa M, Sudo K, Li SS and Kanno T.
  TITLE     Analysis of genetic mutations in human lactate dehydrogenase-A(M)
            deficiency using DNA conformation polymorphism in combination with
            polyacrylamide gradient gel and silver staining
  JOURNAL   Biochem Biophys Res Commun 180 (2), 1083-1090 (1991)
   PUBMED   1953713
REFERENCE   10 (residues 1 to 274)
  AUTHORS   LeVan KM and Goldberg E.
  TITLE     Properties of human testis-specific lactate dehydrogenase expressed
            from Escherichia coli
  JOURNAL   Biochem J 273 (Pt 3) (Pt 3), 587-592 (1991)
   PUBMED   1996957
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK130587.1, AK307477.1,
            AC084117.6 and BM995301.1.
            
            Summary: The protein encoded by this gene catalyzes the conversion
            of L-lactate and NAD to pyruvate and NADH in the final step of
            anaerobic glycolysis. The protein is found predominantly in muscle
            tissue and belongs to the lactate dehydrogenase family. Mutations
            in this gene have been linked to exertional myoglobinuria. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. The human genome contains several non-transcribed
            pseudogenes of this gene. [provided by RefSeq, Sep 2008].
            
            Transcript Variant: This variant (4) differs in the 3' UTR and has
            multiple differences in the 3' coding region, compared to variant
            1, one of which results in a frameshift. The resulting isoform (4)
            lacks a segment of the LDH domain and has a shorter and distinct
            C-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK130587.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..274
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     Protein         1..274
                     /product="L-lactate dehydrogenase A chain isoform 4"
                     /EC_number="1.1.1.27"
                     /note="L-lactate dehydrogenase A chain; lactate
                     dehydrogenase M; LDH muscle subunit; renal carcinoma
                     antigen NY-REN-59; proliferation-inducing gene 19; LDH-A;
                     LDH-M; cell proliferation-inducing gene 19 protein;
                     epididymis secretory sperm binding protein Li 133P"
                     /calculated_mol_wt=29926
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.10,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895;
                     propagated from UniProtKB/Swiss-Prot (P00338.2)"
     Site            5
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00338.2)"
     Site            10
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P00338.2)"
     Site            14
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00338.2)"
     Site            18
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P00338.2)"
     Region          19..>229
                     /region_name="LDH_1"
                     /note="A subgroup of L-lactate dehydrogenases; cd05293"
                     /db_xref="CDD:133429"
     Site            order(29..31,52,54,57,95..99,136,138,161,165,193)
                     /site_type="other"
                     /note="NAD binding site [chemical binding]"
                     /db_xref="CDD:133429"
     Site            57
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00338.2)"
     Site            81
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00338.2)"
     Site            118
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00338.2)"
     Site            126
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00338.2)"
     Site            224
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P06151; propagated from
                     UniProtKB/Swiss-Prot (P00338.2)"
     CDS             1..274
                     /gene="LDHA"
                     /gene_synonym="GSD11; HEL-S-133P; LDHM; PIG19"
                     /coded_by="NM_001165415.2:99..923"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS53610.1"
                     /db_xref="GeneID:3939"
                     /db_xref="HGNC:HGNC:6535"
                     /db_xref="MIM:150000"
ORIGIN      
        1 matlkdqliy nllkeeqtpq nkitvvgvga vgmacaisil mkdladelal vdviedklkg
       61 emmdlqhgsl flrtpkivsg kdynvtansk lviitagarq qegesrlnlv qrnvnifkfi
      121 ipnvvkyspn ckllivsnpv diltyvawki sgfpknrvig sgcnldsarf rylmgerlgv
      181 hplschgwvl gehgdssvpv wsgmnvagvs lktlhpdlgt dkdkeqwkec rytlgdpkga
      241 ailkssdvis fhclgynril gggcaccpfy licd
//
LOCUS       NP_001393942             379 aa            linear   PRI 17-APR-2023
DEFINITION  mothers against decapentaplegic homolog 3 isoform 7 [Homo sapiens].
ACCESSION   NP_001393942
VERSION     NP_001393942.1
DBSOURCE    REFSEQ: accession NM_001407013.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 379)
  AUTHORS   Li C, Fu Y, He Y, Huang N, Yue J, Miao Y, Lv J, Xiao Y, Deng R,
            Zhang C and Huang M.
  TITLE     Knockdown of LINC00511 enhances radiosensitivity of lung
            adenocarcinoma via regulating miR-497-5p/SMAD3
  JOURNAL   Cancer Biol Ther 24 (1), 2165896 (2023)
   PUBMED   36861928
  REMARK    GeneRIF: Knockdown of LINC00511 enhances radiosensitivity of lung
            adenocarcinoma via regulating miR-497-5p/SMAD3.
REFERENCE   2  (residues 1 to 379)
  AUTHORS   Mazi FA, Cakiroglu E, Uysal M, Kalyoncu M, Demirci D, Sozeri PYG,
            Yilmaz GO, Ozhan SE and Senturk S.
  TITLE     The paracaspase MALT1 is a downstream target of Smad3 and
            potentiates the crosstalk between TGF-beta and NF-kB signaling
            pathways in cancer cells
  JOURNAL   Cell Signal 105, 110611 (2023)
   PUBMED   36708753
  REMARK    GeneRIF: The paracaspase MALT1 is a downstream target of Smad3 and
            potentiates the crosstalk between TGF-beta and NF-kB signaling
            pathways in cancer cells.
REFERENCE   3  (residues 1 to 379)
  AUTHORS   Jeon HY, Pornour M, Ryu H, Khadka S, Xu R, Jang J, Li D, Chen H,
            Hussain A, Fazli L, Gleave M, Dong X, Huang F, Wang Q, Barbieri C
            and Qi J.
  TITLE     SMAD3 promotes expression and activity of the androgen receptor in
            prostate cancer
  JOURNAL   Nucleic Acids Res 51 (6), 2655-2670 (2023)
   PUBMED   36727462
  REMARK    GeneRIF: SMAD3 promotes expression and activity of the androgen
            receptor in prostate cancer.
REFERENCE   4  (residues 1 to 379)
  AUTHORS   Liu X, Li X, Wang S, Liu Q, Feng X, Wang W, Huang Z, Huang Y, Wu J,
            Cai M, Cai X, Xu X, Cai J and Li M.
  TITLE     ATOH8 binds SMAD3 to induce cellular senescence and prevent
            Ras-driven malignant transformation
  JOURNAL   Proc Natl Acad Sci U S A 120 (3), e2208927120 (2023)
   PUBMED   36626550
  REMARK    GeneRIF: ATOH8 binds SMAD3 to induce cellular senescence and
            prevent Ras-driven malignant transformation.
REFERENCE   5  (residues 1 to 379)
  AUTHORS   Zhang Y, Feng X, We R and Derynck R.
  TITLE     Receptor-associated Mad homologues synergize as effectors of the
            TGF-beta response
  JOURNAL   Nature 383 (6596), 168-172 (1996)
   PUBMED   8774881
REFERENCE   6  (residues 1 to 379)
  AUTHORS   Riggins GJ, Thiagalingam S, Rozenblum E, Weinstein CL, Kern SE,
            Hamilton SR, Willson JK, Markowitz SD, Kinzler KW and Vogelstein B.
  TITLE     Mad-related genes in the human
  JOURNAL   Nat Genet 13 (3), 347-349 (1996)
   PUBMED   8673135
REFERENCE   7  (residues 1 to 379)
  AUTHORS   Beijersbergen RL, Kerkhoven RM, Zhu L, Carlee L, Voorhoeve PM and
            Bernards R.
  TITLE     E2F-4, a new member of the E2F gene family, has oncogenic activity
            and associates with p107 in vivo
  JOURNAL   Genes Dev 8 (22), 2680-2690 (1994)
   PUBMED   7958925
REFERENCE   8  (residues 1 to 379)
  AUTHORS   Ginsberg D, Vairo G, Chittenden T, Xiao ZX, Xu G, Wydner KL,
            DeCaprio JA, Lawrence JB and Livingston DM.
  TITLE     E2F-4, a new member of the E2F transcription factor family,
            interacts with p107
  JOURNAL   Genes Dev 8 (22), 2665-2679 (1994)
   PUBMED   7958924
REFERENCE   9  (residues 1 to 379)
  AUTHORS   Loeys,B.L. and Dietz,H.C.
  TITLE     Loeys-Dietz Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301312
REFERENCE   10 (residues 1 to 379)
  AUTHORS   Milewicz,D.M. and Regalado,E.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087482.9 and AC012568.7.
            
            Summary: The SMAD family of proteins are a group of intracellular
            signal transducer proteins similar to the gene products of the
            Drosophila gene 'mothers against decapentaplegic' (Mad) and the C.
            elegans gene Sma. The SMAD3 protein functions in the transforming
            growth factor-beta signaling pathway, and transmits signals from
            the cell surface to the nucleus, regulating gene activity and cell
            proliferation. This protein forms a complex with other SMAD
            proteins and binds DNA, functioning both as a transcription factor
            and tumor suppressor. Mutations in this gene are associated with
            aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3.
            [provided by RefSeq, May 2022].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.2379511.1,
                                           SRR14038193.4264895.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..379
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.33"
     Protein         1..379
                     /product="mothers against decapentaplegic homolog 3
                     isoform 7"
                     /note="SMA- and MAD-related protein 3; MAD, mothers
                     against decapentaplegic homolog 3; mad homolog JV15-2; mad
                     protein homolog; MAD homolog 3; mothers against DPP
                     homolog 3; SMAD, mothers against DPP homolog 3"
                     /calculated_mol_wt=42867
     Region          8..132
                     /region_name="MH1_SMAD_2_3"
                     /note="N-terminal Mad Homology 1 (MH1) domain in SMAD2 and
                     SMAD3; cd10491"
                     /db_xref="CDD:199815"
     Site            order(33,37,70,74..78,81,100..101)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:199815"
     Site            order(64,109,121,126)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:199815"
     Region          224..368
                     /region_name="MH2"
                     /note="C-terminal Mad Homology 2 (MH2) domain; cl00056"
                     /db_xref="CDD:444672"
     Site            order(238,246..247,249,260..264,268,272..275,277,284,
                     288..289,291,318,321,344,351,353,355)
                     /site_type="other"
                     /note="trimer interface [polypeptide binding]"
                     /db_xref="CDD:199819"
     CDS             1..379
                     /gene="SMAD3"
                     /gene_synonym="hMAD-3; hSMAD3; HSPC193; HsT17436; JV15-2;
                     LDS1C; LDS3; mad3; MADH3"
                     /coded_by="NM_001407013.1:554..1693"
                     /note="isoform 7 is encoded by transcript variant 7"
                     /db_xref="GeneID:4088"
                     /db_xref="HGNC:HGNC:6769"
                     /db_xref="MIM:603109"
ORIGIN      
        1 mssilpftpp ivkrllgwkk geqngqeekw cekavkslvk klkktgqlde lekaittqnv
       61 ntkcitiprs ldgrlqvshr kglphviycr lwrwpdlhsh helramelce fafnmkkdev
      121 cvnpyhyqrv etpvlppvlv prhteipaef pplddyshsi pentnfpagi epqsnipetp
      181 ppgylsedge tsdhqmnhsm dagspnlspn pmspahnnld lqpvtycepa fwcsisyyel
      241 nqrvgetfha sqpsmtvdgf tdpsnserfc lgllsnvnrn aaveltrrhi gcnlkifnnq
      301 efaallaqsv nqgfeavyql trmctirmsf vkgwgaeyrr qtvtstpcwi elhlngplqw
      361 ldkvltqmgs psircssvs
//
LOCUS       NP_001337697             203 aa            linear   PRI 17-APR-2023
DEFINITION  ribosome biogenesis protein C1orf109 isoform 3 [Homo sapiens].
ACCESSION   NP_001337697 XP_016857043
VERSION     NP_001337697.1
DBSOURCE    REFSEQ: accession NM_001350768.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 203)
  AUTHORS   Sun J, Zhang X and Sun Y.
  TITLE     C1orf109 promotes malignant phenotype of liver cancer via wnt
            signaling pathway in a CK2-dependent manner
  JOURNAL   J Mol Histol 54 (2), 135-145 (2023)
   PUBMED   36988773
  REMARK    GeneRIF: C1orf109 promotes malignant phenotype of liver cancer via
            wnt signaling pathway in a CK2-dependent manner.
REFERENCE   2  (residues 1 to 203)
  AUTHORS   Ni C, Schmitz DA, Lee J, Pawlowski K, Wu J and Buszczak M.
  TITLE     Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5
            control a late step in human ribosome assembly
  JOURNAL   Cell Rep 38 (13), 110597 (2022)
   PUBMED   35354024
  REMARK    GeneRIF: Labeling of heterochronic ribosomes reveals C1ORF109 and
            SPATA5 control a late step in human ribosome assembly.
REFERENCE   3  (residues 1 to 203)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 203)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 203)
  AUTHORS   Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V,
            MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG,
            Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ,
            Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E,
            Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell
            CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R,
            Tay WT, Zheng Y, Chew M, Burdon KP, Craig JE, Iyengar SK, Igo RP
            Jr, Lass JH Jr, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja
            J, Simpson CL, Wojciechowski R, Hohn R, Mirshahi A, Zeller T,
            Pfeiffer N, Lackner KJ, Bettecken T, Meitinger T, Oexle K, Pirastu
            M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE,
            Hosseini SM, Paterson AD, Makela KM, Lehtimaki T, Kahonen M,
            Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap
            MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai
            ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A,
            Uitterlinden AG, Bencic G, Khor CC, Forward H, Parssinen O,
            Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo
            YY, Hammond CJ, Stambolian D, Mackey DA, Klaver CC, Wong TY, Saw SM
            and Baird PN.
  CONSRTM   Consortium for Refractive Error and Myopia; Fuchs' Genetics
            Multi-Center Study Group; Wellcome Trust Case Control Consortium 2;
            Diabetes Control and Complications Trial/Epidemiology of Diabetes
            Interventions, and Complications Research Group
  TITLE     Nine loci for ocular axial length identified through genome-wide
            association studies, including shared loci with refractive error
  JOURNAL   Am J Hum Genet 93 (2), 264-277 (2013)
   PUBMED   24144296
REFERENCE   6  (residues 1 to 203)
  AUTHORS   Liu SS, Zheng HX, Jiang HD, He J, Yu Y, Qu YP, Yue L, Zhang Y and
            Li Y.
  TITLE     Identification and characterization of a novel gene, c1orf109,
            encoding a CK2 substrate that is involved in cancer cell
            proliferation
  JOURNAL   J Biomed Sci 19 (1), 49 (2012)
   PUBMED   22548824
  REMARK    GeneRIF: our findings suggest that C1ORF109 may be the downstream
            target of protein kinase CK2 and involved in the regulation of
            cancer cell proliferation.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 203)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   8  (residues 1 to 203)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA707995.1, AK000515.1, DA608785.1, AA307727.1 and BC018109.1.
            On Apr 22, 2017 this sequence version replaced XP_016857043.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1310457.1,
                                           SRR14038192.744931.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..203
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     Protein         1..203
                     /product="ribosome biogenesis protein C1orf109 isoform 3"
                     /note="uncharacterized protein C1orf109; ribosome
                     biogenesis protein C1orf109"
                     /calculated_mol_wt=23242
     Region          13..171
                     /region_name="CK2S"
                     /note="Casein Kinase 2 substrate; pfam15011"
                     /db_xref="CDD:434389"
     CDS             1..203
                     /gene="AIRIM"
                     /gene_synonym="C1orf109"
                     /coded_by="NM_001350768.2:322..933"
                     /note="isoform 3 is encoded by transcript variant 17"
                     /db_xref="CCDS:CCDS423.1"
                     /db_xref="GeneID:54955"
                     /db_xref="HGNC:HGNC:26039"
                     /db_xref="MIM:614799"
ORIGIN      
        1 mtqdrpllav qealkkcfpv veeqqglwqs alrdcqplls slsnlaeqlq aaqnlrfedv
       61 palrafpdlk erlrrkqlva gdivldklge rlaillkvrd mvsshvervf qiyeqhadtv
      121 gidavlqpsa vspsvadmle wlqdierhyr ksylkrkyll ssiqwgdlan iqalpkawdr
      181 iskdehqdlv qdillnvsff lee
//
LOCUS       NP_001140167             813 aa            linear   PRI 17-APR-2023
DEFINITION  lysine-specific demethylase 4C isoform 3 [Homo sapiens].
ACCESSION   NP_001140167
VERSION     NP_001140167.1
DBSOURCE    REFSEQ: accession NM_001146695.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 813)
  AUTHORS   Staehle AM, Peeken JC, Vladimirov G, Hoeness ME, Bojtine Kovacs S,
            Karantzelis N, Gruender A, Koellerer C, Jutzi JS, Pahl HL and
            Staehle HF.
  TITLE     The histone demethylase JMJD2C constitutes a novel NFE2 target gene
            that is required for the survival of JAK2V617F mutated cells
  JOURNAL   Leukemia 37 (4), 919-923 (2023)
   PUBMED   36709354
  REMARK    GeneRIF: The histone demethylase JMJD2C constitutes a novel NFE2
            target gene that is required for the survival of JAK2[V617F]
            mutated cells.
REFERENCE   2  (residues 1 to 813)
  AUTHORS   Lopez C, Schleussner N, Bernhart SH, Kleinheinz K, Sungalee S,
            Sczakiel HL, Kretzmer H, Toprak UH, Glaser S, Wagener R, Ammerpohl
            O, Bens S, Giefing M, Sanchez JCG, Apic G, Hubschmann D, Janz M,
            Kreuz M, Mottok A, Muller JM, Seufert J, Hoffmann S, Korbel JO,
            Russell RB, Schule R, Trumper L, Klapper W, Radlwimmer B, Lichter
            P, Kuppers R, Schlesner M, Mathas S and Siebert R.
  TITLE     Focal structural variants revealed by whole genome sequencing
            disrupt the histone demethylase KDM4C in B-cell lymphomas
  JOURNAL   Haematologica 108 (2), 543-554 (2023)
   PUBMED   35522148
  REMARK    GeneRIF: Focal structural variants revealed by whole genome
            sequencing disrupt the histone demethylase KDM4C in B-cell
            lymphomas.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 813)
  AUTHORS   Close K and Fitzgibbon J.
  TITLE     KDM4C in germinal center lymphoma: a new piece of the epigenetic
            puzzle
  JOURNAL   Haematologica 108 (2), 297-298 (2023)
   PUBMED   35484653
  REMARK    GeneRIF: KDM4C in germinal center lymphoma: a new piece of the
            epigenetic puzzle.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 813)
  AUTHORS   Pan HC, Chen YH, Fang WC, Wu VC and Sun CY.
  TITLE     Essential Roles of the Histone Demethylase KDM4C in Renal
            Development and Acute Kidney Injury
  JOURNAL   Int J Mol Sci 23 (16), 9318 (2022)
   PUBMED   36012577
  REMARK    GeneRIF: Essential Roles of the Histone Demethylase KDM4C in Renal
            Development and Acute Kidney Injury.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 813)
  AUTHORS   Li Q, Qu B, Shen H, Deng H and Sun L.
  TITLE     Histone Demethylase GASC1 Inhibitor Targeted GASC1 Gene to Inhibit
            the Malignant Transformation of Esophageal Cancer through the
            NOTCH-MAPK Signaling Pathway
  JOURNAL   Ann Clin Lab Sci 52 (2), 240-248 (2022)
   PUBMED   35414503
  REMARK    GeneRIF: Histone Demethylase GASC1 Inhibitor Targeted GASC1 Gene to
            Inhibit the Malignant Transformation of Esophageal Cancer through
            the NOTCH-MAPK Signaling Pathway.
REFERENCE   6  (residues 1 to 813)
  AUTHORS   Berry WL and Janknecht R.
  TITLE     KDM4/JMJD2 histone demethylases: epigenetic regulators in cancer
            cells
  JOURNAL   Cancer Res 73 (10), 2936-2942 (2013)
   PUBMED   23644528
  REMARK    Review article
REFERENCE   7  (residues 1 to 813)
  AUTHORS   Cloos PA, Christensen J, Agger K, Maiolica A, Rappsilber J, Antal
            T, Hansen KH and Helin K.
  TITLE     The putative oncogene GASC1 demethylates tri- and dimethylated
            lysine 9 on histone H3
  JOURNAL   Nature 442 (7100), 307-311 (2006)
   PUBMED   16732293
  REMARK    GeneRIF: GASC1 interacts with H3K9me3; three members of this
            subfamily of proteins demethylate H3K9me3/me2 in vitro through a
            hydroxylation reaction requiring iron and alpha-ketoglutarate as
            cofactors
REFERENCE   8  (residues 1 to 813)
  AUTHORS   Whetstine JR, Nottke A, Lan F, Huarte M, Smolikov S, Chen Z,
            Spooner E, Li E, Zhang G, Colaiacovo M and Shi Y.
  TITLE     Reversal of histone lysine trimethylation by the JMJD2 family of
            histone demethylases
  JOURNAL   Cell 125 (3), 467-481 (2006)
   PUBMED   16603238
REFERENCE   9  (residues 1 to 813)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of JMJD2 family genes in silico
  JOURNAL   Int J Oncol 24 (6), 1623-1628 (2004)
   PUBMED   15138608
REFERENCE   10 (residues 1 to 813)
  AUTHORS   Yang ZQ, Imoto I, Fukuda Y, Pimkhaokham A, Shimada Y, Imamura M,
            Sugano S, Nakamura Y and Inazawa J.
  TITLE     Identification of a novel gene, GASC1, within an amplicon at
            9p23-24 frequently detected in esophageal cancer cell lines
  JOURNAL   Cancer Res 60 (17), 4735-4739 (2000)
   PUBMED   10987278
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354707.17, AL445592.15,
            AL513412.3 and AL137020.14.
            
            Summary: This gene is a member of the Jumonji domain 2 (JMJD2)
            family. The encoded protein is a trimethylation-specific
            demethylase, and converts specific trimethylated histone residues
            to the dimethylated form. This enzymatic action regulates gene
            expression and chromosome segregation. Chromosomal aberrations and
            changes in expression of this gene may be found in tumor cells.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2015].
            
            Sequence Note:.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK304032.1, SRR18074967.2108209.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..813
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.1"
     Protein         1..813
                     /product="lysine-specific demethylase 4C isoform 3"
                     /EC_number="1.14.11.66"
                     /note="lysine-specific demethylase 4C; JmjC
                     domain-containing histone demethylation protein 3C;
                     jumonji domain-containing protein 2C; [histone
                     H3]-trimethyl-L-lysine(9) demethylase 4C; gene amplified
                     in squamous cell carcinoma 1 protein; tudor domain
                     containing 14C; lysine (K)-specific demethylase 4C"
                     /calculated_mol_wt=91760
     Region          16..57
                     /region_name="JmjN"
                     /note="jmjN domain; cl15840"
                     /db_xref="CDD:449600"
     Region          177..293
                     /region_name="JmjC"
                     /note="JmjC domain, hydroxylase; pfam02373"
                     /db_xref="CDD:396791"
     Region          370..414
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H3R0.2)"
     Region          423..442
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H3R0.2)"
     Region          480..598
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H3R0.2)"
     Region          644..746
                     /region_name="PHD_JMJD2C"
                     /note="PHD finger found in Jumonji domain-containing
                     protein 2C (JMJD2C); cd15577"
                     /db_xref="CDD:277052"
     Site            order(644,714..718,722,741)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277052"
     Region          755..>808
                     /region_name="PHD_SF"
                     /note="PHD finger superfamily; cl22851"
                     /db_xref="CDD:451427"
     CDS             1..813
                     /gene="KDM4C"
                     /gene_synonym="GASC1; JHDM3C; JMJD2C; TDRD14C"
                     /coded_by="NM_001146695.4:249..2690"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS55286.1"
                     /db_xref="GeneID:23081"
                     /db_xref="HGNC:HGNC:17071"
                     /db_xref="MIM:605469"
ORIGIN      
        1 mevaevespl npsckimtfr psmeefrefn kylaymeskg ahraglakvi ppkewkprqc
       61 yddidnllip apiqqmvtgq sglftqyniq kkamtvkefr qlansgkyct pryldyedle
      121 rkywknltfv apiygading siydegvdew niarlntvld vveeecgisi egvntpylyf
      181 gmwkttfawh tedmdlysin ylhfgepksw yaippehgkr lerlaqgffp sssqgcdafl
      241 rhkmtlisps vlkkygipfd kitqeagefm itfpygyhag fnhgfncaes tnfatvrwid
      301 ygkvaklctc rkdmvkismd ifvrkfqpdr yqlwkqgkdi ytidhtkptp astpevkawl
      361 qrrrkvrkas rsfqcarsts krpkadeeee vsdevdgaev pnpdsvtddl kvsekseaav
      421 klrnteasse eessasrmqv eqnlsdhikl sgnsclstsv tedikteddk ayayrsvpsi
      481 sseaddsipl ssgyekpeks dpselswpks pescssvaes ngvltegees dveshgngle
      541 pgeipavpsg ernsfkvpsi aegenktsks wrhplsrppa rspmtlvkqq apsdeelpev
      601 lsieeeveet eswakplihl wqtkspnfaa eqeynatvar mkphcaictl lmpyhkpdss
      661 neendarwet kldevvtseg ktkplipemc fiyseeniey sppnafleed gtslliscak
      721 ccvrvhascy gipsheicdg wlcarckrna wtaecclcnl rggalkqtkn nkwahvmcav
      781 avpevrftnv pertqidvgr iplqrlklgr lgi
//
LOCUS       NP_001121549              44 aa            linear   PRI 13-FEB-2021
DEFINITION  keratin-associated protein 20-3 [Homo sapiens].
ACCESSION   NP_001121549
VERSION     NP_001121549.1
DBSOURCE    REFSEQ: accession NM_001128077.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 44)
  AUTHORS   Rogers MA, Langbein L, Winter H, Ehmann C, Praetzel S and Schweizer
            J.
  TITLE     Characterization of a first domain of human high glycine-tyrosine
            and high sulfur keratin-associated protein (KAP) genes on
            chromosome 21q22.1
  JOURNAL   J Biol Chem 277 (50), 48993-49002 (2002)
   PUBMED   12359730
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001069.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript is intronless :: AB096958.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382826.2/ ENSP00000372276.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..44
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     Protein         1..44
                     /product="keratin-associated protein 20-3"
                     /note="keratin associated protein 19 pseudogene 4"
                     /calculated_mol_wt=4777
     CDS             1..44
                     /gene="KRTAP20-3"
                     /gene_synonym="KAP19D; KAP20.3; KRTAP19P4"
                     /coded_by="NM_001128077.1:26..160"
                     /db_xref="CCDS:CCDS46642.1"
                     /db_xref="GeneID:337985"
                     /db_xref="HGNC:HGNC:34001"
ORIGIN      
        1 msyygnyygg lgygydckys ytsgfgafri ldcgyrcgcg gvwi
//
LOCUS       NP_001399906             177 aa            linear   PRI 14-DEC-2022
DEFINITION  cyclic AMP-dependent transcription factor ATF-1 isoform e [Homo
            sapiens].
ACCESSION   NP_001399906
VERSION     NP_001399906.1
DBSOURCE    REFSEQ: accession NM_001412977.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 177)
  AUTHORS   Aktar S, Arii J, Nguyen TTH, Huang JR, Nishimura M and Mori Y.
  TITLE     ATF1 Restricts Human Herpesvirus 6A Replication via Beta Interferon
            Induction
  JOURNAL   J Virol 96 (19), e0126422 (2022)
   PUBMED   36154610
  REMARK    GeneRIF: ATF1 Restricts Human Herpesvirus 6A Replication via Beta
            Interferon Induction.
REFERENCE   2  (residues 1 to 177)
  AUTHORS   Li BX, David LL, Davis LE and Xiao X.
  TITLE     Protein arginine methyltransferase 5 is essential for oncogene
            product EWSR1-ATF1-mediated gene transcription in clear cell
            sarcoma
  JOURNAL   J Biol Chem 298 (10), 102434 (2022)
   PUBMED   36041632
  REMARK    GeneRIF: Protein arginine methyltransferase 5 is essential for
            oncogene product EWSR1-ATF1-mediated gene transcription in clear
            cell sarcoma.
REFERENCE   3  (residues 1 to 177)
  AUTHORS   Li T, Cao H, Wu S, Zhong P, Ding J, Wang J, Wang F, He Z and Huang
            GL.
  TITLE     Phosphorylated ATF1 at Thr184 promotes metastasis and regulates
            MMP2 expression in gastric cancer
  JOURNAL   J Transl Med 20 (1), 169 (2022)
   PUBMED   35397606
  REMARK    GeneRIF: Phosphorylated ATF1 at Thr184 promotes metastasis and
            regulates MMP2 expression in gastric cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 177)
  AUTHORS   Ren H, Rassekh SR, Lacson A, Lee CH, Dickson BC, Chung CT and Lee
            AF.
  TITLE     Malignant Mesothelioma With EWSR1-ATF1 Fusion in Two Adolescent
            Male Patients
  JOURNAL   Pediatr Dev Pathol 24 (6), 570-574 (2021)
   PUBMED   34121509
  REMARK    GeneRIF: Malignant Mesothelioma With EWSR1-ATF1 Fusion in Two
            Adolescent Male Patients.
REFERENCE   5  (residues 1 to 177)
  AUTHORS   Wang H, Zhu Y, Chen H, Yang N, Wang X, Li B, Ying P, He H, Cai Y,
            Zhang M, Niu S, Li Y, Lu Z, Peng X, Zou D, Zhong R, Chang J, Dai M,
            Tian J and Miao X.
  TITLE     Colorectal cancer risk variant rs7017386 modulates two oncogenic
            lncRNAs expression via ATF1-mediated long-range chromatin loop
  JOURNAL   Cancer Lett 518, 140-151 (2021)
   PUBMED   34274452
  REMARK    GeneRIF: Colorectal cancer risk variant rs7017386 modulates two
            oncogenic lncRNAs expression via ATF1-mediated long-range chromatin
            loop.
REFERENCE   6  (residues 1 to 177)
  AUTHORS   Pongubala JM and Atchison ML.
  TITLE     Activating transcription factor 1 and cyclic AMP response element
            modulator can modulate the activity of the immunoglobulin kappa 3'
            enhancer
  JOURNAL   J Biol Chem 270 (17), 10304-10313 (1995)
   PUBMED   7730336
REFERENCE   7  (residues 1 to 177)
  AUTHORS   Liu F, Thompson MA, Wagner S, Greenberg ME and Green MR.
  TITLE     Activating transcription factor-1 can mediate Ca(2+)- and
            cAMP-inducible transcriptional activation
  JOURNAL   J Biol Chem 268 (9), 6714-6720 (1993)
   PUBMED   8384217
REFERENCE   8  (residues 1 to 177)
  AUTHORS   Rehfuss RP, Walton KM, Loriaux MM and Goodman RH.
  TITLE     The cAMP-regulated enhancer-binding protein ATF-1 activates
            transcription in response to cAMP-dependent protein kinase A
  JOURNAL   J Biol Chem 266 (28), 18431-18434 (1991)
   PUBMED   1655749
REFERENCE   9  (residues 1 to 177)
  AUTHORS   Yoshimura T, Fujisawa J and Yoshida M.
  TITLE     Multiple cDNA clones encoding nuclear proteins that bind to the
            tax-dependent enhancer of HTLV-1: all contain a leucine zipper
            structure and basic amino acid domain
  JOURNAL   EMBO J 9 (8), 2537-2542 (1990)
   PUBMED   2196176
REFERENCE   10 (residues 1 to 177)
  AUTHORS   Hai TW, Liu F, Coukos WJ and Green MR.
  TITLE     Transcription factor ATF cDNA clones: an extensive family of
            leucine zipper proteins able to selectively form DNA-binding
            heterodimers
  JOURNAL   Genes Dev 3 (12B), 2083-2090 (1989)
   PUBMED   2516827
  REMARK    Erratum:[Genes Dev 1990 Apr;4(4):682]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013244.39.
            
            Summary: This gene encodes an activating transcription factor,
            which belongs to the ATF subfamily and bZIP (basic-region leucine
            zipper) family. It influences cellular physiologic processes by
            regulating the expression of downstream target genes, which are
            related to growth, survival, and other cellular activities. This
            protein is phosphorylated at serine 63 in its kinase-inducible
            domain by serine/threonine kinases, cAMP-dependent protein kinase
            A, calmodulin-dependent protein kinase I/II, mitogen- and
            stress-activated protein kinase and cyclin-dependent kinase 3
            (cdk-3). Its phosphorylation enhances its transactivation and
            transcriptional activities, and enhances cell transformation.
            Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome
            22 induced by translocation generates chimeric proteins in
            angiomatoid fibrous histiocytoma and clear cell sarcoma. This gene
            has a pseudogene on chromosome 6. [provided by RefSeq, Aug 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2589674.1,
                                           SRR14478891.1124477.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..177
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     Protein         1..177
                     /product="cyclic AMP-dependent transcription factor ATF-1
                     isoform e"
                     /note="cyclic AMP-dependent transcription factor ATF-1;
                     cAMP-dependent transcription factor ATF-1"
                     /calculated_mol_wt=19294
     Region          121..175
                     /region_name="bZIP_CREB1"
                     /note="Basic leucine zipper (bZIP) domain of Cyclic
                     AMP-responsive element-binding protein 1 (CREB1) and
                     similar proteins: a DNA-binding and dimerization domain;
                     cd14690"
                     /db_xref="CDD:269838"
     Region          122..174
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:269838"
     Site            order(122,126,128..130,132..134,136..137,139..141)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:269838"
     Site            order(140,143,147..148,150..151,154..155,157..158,161,
                     164..165,168..169,171..172)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:269838"
     CDS             1..177
                     /gene="ATF1"
                     /gene_synonym="EWS-ATF1; FUS/ATF-1; TREB36"
                     /coded_by="NM_001412977.1:385..918"
                     /note="isoform e is encoded by transcript variant 19"
                     /db_xref="GeneID:466"
                     /db_xref="HGNC:HGNC:783"
                     /db_xref="MIM:123803"
ORIGIN      
        1 msvptpiyqt ssgqyiaiap ngalqlaspg tdgvqglqtl tmtnsgstqq gttilqyaqt
       61 sdgqqilvps nqvvvqtasg dmqtyqirtt psatslpqtv vmtspvtlts qttktddpql
      121 kreirlmknr eaarecrrkk keyvkclenr vavlenqnkt lieelktlkd lysnksv
//
LOCUS       NP_001135878             151 aa            linear   PRI 17-DEC-2022
DEFINITION  PRELI domain containing protein 3A isoform 2 [Homo sapiens].
ACCESSION   NP_001135878 XP_011523902
VERSION     NP_001135878.1
DBSOURCE    REFSEQ: accession NM_001142406.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 151)
  AUTHORS   Miliara X, Garnett JA, Tatsuta T, Abid Ali F, Baldie H,
            Perez-Dorado I, Simpson P, Yague E, Langer T and Matthews S.
  TITLE     Structural insight into the TRIAP1/PRELI-like domain family of
            mitochondrial phospholipid transfer complexes
  JOURNAL   EMBO Rep 16 (7), 824-835 (2015)
   PUBMED   26071602
  REMARK    GeneRIF: crystal structures of free TRIAP1 and TRIAP1-SLMO1 complex
            reveal how the PRELI domain is chaperoned during import into the
            intermembrane mitochondrial space; structural resemblance of
            PRELI-like domain of SLMO1 with that of mammalian
            phoshatidylinositol transfer proteins suggest they share similar
            lipid transfer mechanisms
REFERENCE   2  (residues 1 to 151)
  AUTHORS   Hasson SA, Kane LA, Yamano K, Huang CH, Sliter DA, Buehler E, Wang
            C, Heman-Ackah SM, Hessa T, Guha R, Martin SE and Youle RJ.
  TITLE     High-content genome-wide RNAi screens identify regulators of parkin
            upstream of mitophagy
  JOURNAL   Nature 504 (7479), 291-295 (2013)
   PUBMED   24270810
REFERENCE   3  (residues 1 to 151)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK303325.1, AP001029.5 and CA446199.1.
            On Apr 28, 2015 this sequence version replaced XP_011523902.1.
            
            Transcript Variant: This variant (3) has a different 5' terminal
            exon resulting in translation initiation from a downstream start
            codon compared to variant 1. The encoded isoform (2) has a shorter
            N-terminus compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no quality transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK303325.1, BQ645268.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..151
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.21"
     Protein         1..151
                     /product="PRELI domain containing protein 3A isoform 2"
                     /note="erythroid differentiation and denucleation factor
                     1; protein slowmo homolog 1; PRELI domain containing
                     protein 3A"
                     /calculated_mol_wt=16694
     Region          1..149
                     /region_name="PRELI"
                     /note="PRELI-like family; pfam04707"
                     /db_xref="CDD:398400"
     CDS             1..151
                     /gene="PRELID3A"
                     /gene_synonym="C18orf43; HFL-EDDG1; SLMO1"
                     /coded_by="NM_001142406.1:168..623"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS77154.1"
                     /db_xref="GeneID:10650"
                     /db_xref="HGNC:HGNC:24639"
                     /db_xref="MIM:616545"
ORIGIN      
        1 mrkypnpmnp svlgvdvlqr rvdgrgrlhs lrllstewgl pslvrailgt srtltyireh
       61 svvdpvekkm elcstnitlt nlvsvnerlv ytphpenpem tvltqeaiit vkgislgsyl
      121 eslmantiss nakkgwaaie wiiehsesav s
//
LOCUS       NP_996262                383 aa            linear   PRI 24-DEC-2022
DEFINITION  protein delta homolog 2 isoform a precursor [Homo sapiens].
ACCESSION   NP_996262
VERSION     NP_996262.1
DBSOURCE    REFSEQ: accession NM_206539.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 383)
  AUTHORS   Naranjo AI, Gonzalez-Gomez MJ, Baladron V, Laborda J and Nueda ML.
  TITLE     Different Expression Levels of DLK2 Inhibit NOTCH Signaling and
            Inversely Modulate MDA-MB-231 Breast Cancer Tumor Growth In Vivo
  JOURNAL   Int J Mol Sci 23 (3), 1554 (2022)
   PUBMED   35163478
  REMARK    GeneRIF: Different Expression Levels of DLK2 Inhibit NOTCH
            Signaling and Inversely Modulate MDA-MB-231 Breast Cancer Tumor
            Growth In Vivo.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 383)
  AUTHORS   Meng F, Wu L, Dong L, Mitchell AV, James Block C, Liu J, Zhang H,
            Lu Q, Song WM, Zhang B, Chen W, Hu J, Wang J, Yang Q, Huttemann M
            and Wu G.
  TITLE     EGFL9 promotes breast cancer metastasis by inducing cMET activation
            and metabolic reprogramming
  JOURNAL   Nat Commun 10 (1), 5033 (2019)
   PUBMED   31695034
  REMARK    GeneRIF: EGFL9 promotes breast cancer metastasis by inducing cMET
            activation and metabolic reprogramming.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 383)
  AUTHORS   Nueda ML, Naranjo AI, Baladron V and Laborda J.
  TITLE     The proteins DLK1 and DLK2 modulate NOTCH1-dependent proliferation
            and oncogenic potential of human SK-MEL-2 melanoma cells
  JOURNAL   Biochim Biophys Acta 1843 (11), 2674-2684 (2014)
   PUBMED   25093684
REFERENCE   4  (residues 1 to 383)
  AUTHORS   Nueda ML, Baladron V, Garcia-Ramirez JJ, Sanchez-Solana B, Ruvira
            MD, Rivero S, Ballesteros MA, Monsalve EM, Diaz-Guerra MJ,
            Ruiz-Hidalgo MJ and Laborda J.
  TITLE     The novel gene EGFL9/Dlk2, highly homologous to Dlk1, functions as
            a modulator of adipogenesis
  JOURNAL   J Mol Biol 367 (5), 1270-1280 (2007)
   PUBMED   17320102
  REMARK    GeneRIF: Studies in mouse showed that dlk2, highly homologous to
            dlk1 (also known as pref-1, and FA-1) appears to modulate
            adipogenesis in vitro in an opposite way to that of dlk1.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK055380.1 and AY358126.1.
            
            Transcript Variant: This variant (2) represents the longest
            transcript and encodes the longest isoform (a). Both variants 1 and
            2 encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK055380.1, SRR1660807.281420.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..383
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     Protein         1..383
                     /product="protein delta homolog 2 isoform a precursor"
                     /note="EGF-like-domain, multiple 9; protein delta homolog
                     2; EGF-like protein 9; epidermal growth factor-like
                     protein 9; delta-like 2 homolog"
                     /calculated_mol_wt=37858
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2708
     Region          89..129
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(89,92,110)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Site            157
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6UY11.1)"
     Region          174..210
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(174,177,191)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          212..248
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(212,215,229)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Site            307..327
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UY11.1)"
     CDS             1..383
                     /gene="DLK2"
                     /gene_synonym="DLK-2; EGFL9"
                     /coded_by="NM_206539.2:702..1853"
                     /note="isoform a precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS4897.1"
                     /db_xref="GeneID:65989"
                     /db_xref="HGNC:HGNC:21113"
ORIGIN      
        1 mpsgcrclhl vcllcilgap gqpvraddcs shcdlahgcc apdgscrcdp gweglhcerc
       61 vrmpgcqhgt chqpwqcich sgwagkfcdk dehicttqsp cqnggqcmyd gggeyhcvcl
      121 pgfhgrdcer kagpceqags pcrnggqcqd dqgfalnftc rclvgfvgar cevnvddclm
      181 rpcangatcl dginrfsclc pegfagrfct inlddcasrp cqrgarcrdr vhdfdclcps
      241 gyggktcelv lpvpdppttv dtplgptsav vvpatgpaph sagagllris vkevvrrqea
      301 glgepslval vvfgaltaal vlatvlltlr awrrgvcppg pccypaphya pacqdqecqv
      361 smlpaglplp rdlppepgkt tal
//
LOCUS       NP_001353386             256 aa            linear   PRI 24-DEC-2022
DEFINITION  rab GTPase-activating protein 1-like isoform R [Homo sapiens].
ACCESSION   NP_001353386
VERSION     NP_001353386.1
DBSOURCE    REFSEQ: accession NM_001366457.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 256)
  AUTHORS   Grossmann A, Benlasfer N, Birth P, Hegele A, Wachsmuth F, Apelt L
            and Stelzl U.
  TITLE     Phospho-tyrosine dependent protein-protein interaction network
  JOURNAL   Mol Syst Biol 11 (3), 794 (2015)
   PUBMED   25814554
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 256)
  AUTHORS   Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G,
            Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U,
            McArdle WL, Quaye L, Koiranen M, Ikram MA, Lehtimaki T, Stam AH,
            Ligthart L, Wedenoja J, Dunham I, Neale BM, Palta P, Hamalainen E,
            Schurks M, Rose LM, Buring JE, Ridker PM, Steinberg S, Stefansson
            H, Jakobsson F, Lawlor DA, Evans DM, Ring SM, Farkkila M, Artto V,
            Kaunisto MA, Freilinger T, Schoenen J, Frants RR, Pelzer N, Weller
            CM, Zielman R, Heath AC, Madden PAF, Montgomery GW, Martin NG,
            Borck G, Gobel H, Heinze A, Heinze-Kuhn K, Williams FMK,
            Hartikainen AL, Pouta A, van den Ende J, Uitterlinden AG, Hofman A,
            Amin N, Hottenga JJ, Vink JM, Heikkila K, Alexander M,
            Muller-Myhsok B, Schreiber S, Meitinger T, Wichmann HE, Aromaa A,
            Eriksson JG, Traynor B, Trabzuni D, Rossin E, Lage K, Jacobs SBR,
            Gibbs JR, Birney E, Kaprio J, Penninx BW, Boomsma DI, van Duijn C,
            Raitakari O, Jarvelin MR, Zwart JA, Cherkas L, Strachan DP, Kubisch
            C, Ferrari MD, van den Maagdenberg AMJM, Dichgans M, Wessman M,
            Smith GD, Stefansson K, Daly MJ, Nyholt DR, Chasman D and Palotie
            A.
  CONSRTM   North American Brain Expression Consortium; UK Brain Expression
            Consortium
  TITLE     Genome-wide meta-analysis identifies new susceptibility loci for
            migraine
  JOURNAL   Nat Genet 45 (8), 912-917 (2013)
   PUBMED   23793025
REFERENCE   3  (residues 1 to 256)
  AUTHORS   Kim JH, Jung SH, Bae JS, Lee HS, Yim SH, Park SY, Bang SY, Hu HJ,
            Shin HD, Bae SC and Chung YJ.
  TITLE     Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with
            the risk of systemic lupus erythematosus in Korean women
  JOURNAL   Arthritis Rheum 65 (4), 1055-1063 (2013)
   PUBMED   23335107
  REMARK    GeneRIF: Deletion variants of RABGAP1L were found to be
            significantly associated with SLE in Korean women.
REFERENCE   4  (residues 1 to 256)
  AUTHORS   Olson JE, Wang X, Pankratz VS, Fredericksen ZS, Vachon CM, Vierkant
            RA, Cerhan JR and Couch FJ.
  TITLE     Centrosome-related genes, genetic variation, and risk of breast
            cancer
  JOURNAL   Breast Cancer Res Treat 125 (1), 221-228 (2011)
   PUBMED   20508983
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 256)
  AUTHORS   Oguri M, Kato K, Yokoi K, Yoshida T, Watanabe S, Metoki N, Yoshida
            H, Satoh K, Aoyagi Y, Nozawa Y and Yamada Y.
  TITLE     Assessment of a polymorphism of SDK1 with hypertension in Japanese
            Individuals
  JOURNAL   Am J Hypertens 23 (1), 70-77 (2010)
   PUBMED   19851296
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 256)
  AUTHORS   Ishibashi K, Kanno E, Itoh T and Fukuda M.
  TITLE     Identification and characterization of a novel Tre-2/Bub2/Cdc16
            (TBC) protein that possesses Rab3A-GAP activity
  JOURNAL   Genes Cells 14 (1), 41-52 (2009)
   PUBMED   19077034
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL008735.2 and Z99127.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.109070.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..256
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.1"
     Protein         1..256
                     /product="rab GTPase-activating protein 1-like isoform R"
                     /note="TBC1 domain family, member 18; expressed in
                     hematopoietic cells, heart, liver (HLL); rab
                     GTPase-activating protein 1-like"
                     /calculated_mol_wt=29370
     Region          <17..>225
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..256
                     /gene="RABGAP1L"
                     /gene_synonym="HHL; TBC1D18"
                     /coded_by="NM_001366457.1:134..904"
                     /note="isoform R is encoded by transcript variant 21"
                     /db_xref="GeneID:9910"
                     /db_xref="HGNC:HGNC:24663"
                     /db_xref="MIM:609238"
ORIGIN      
        1 mresqlqqed pmdrykrenr rlqeasmrle qenddlahel vtskialrnd ldqaedkadv
       61 lnkellltkq rlveteeekr kqeeetaqlk evfrkqleka eyeikkttai iaeykqicsq
      121 lstrlekqqa askeelevvk gkmmackhcs difskegalk laatgredqg ietddekdsl
      181 kkqlremele laqtklqlve akckiqeleh qrgalmneiq aaknswfskt lnsiktatgt
      241 qplqpapvtq ppkest
//
LOCUS       NP_001273172             523 aa            linear   PRI 25-DEC-2022
DEFINITION  coiled-coil domain-containing protein 63 isoform 2 [Homo sapiens].
ACCESSION   NP_001273172 XP_005253910
VERSION     NP_001273172.1
DBSOURCE    REFSEQ: accession NM_001286243.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 523)
  AUTHORS   Yang X, Lu X, Wang L, Chen S, Li J, Cao J, Chen J, Hao Y, Li Y,
            Zhao L, Li H, Liu D, Wang L, Lu F, Shen C, Yu L, Wu X, Zhao Q, Ji
            X, Guo D, Peng X, Huang J and Gu D.
  TITLE     Common variants at 12q24 are associated with drinking behavior in
            Han Chinese
  JOURNAL   Am J Clin Nutr 97 (3), 545-551 (2013)
   PUBMED   23364009
REFERENCE   2  (residues 1 to 523)
  AUTHORS   Baik I, Cho NH, Kim SH, Han BG and Shin C.
  TITLE     Genome-wide association studies identify genetic loci related to
            alcohol consumption in Korean men
  JOURNAL   Am J Clin Nutr 93 (4), 809-816 (2011)
   PUBMED   21270382
REFERENCE   3  (residues 1 to 523)
  AUTHORS   Takeuchi F, Isono M, Nabika T, Katsuya T, Sugiyama T, Yamaguchi S,
            Kobayashi S, Ogihara T, Yamori Y, Fujioka A and Kato N.
  TITLE     Confirmation of ALDH2 as a Major locus of drinking behavior and of
            its variants regulating multiple metabolic phenotypes in a Japanese
            population
  JOURNAL   Circ J 75 (4), 911-918 (2011)
   PUBMED   21372407
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK302207.1, DB036197.1 and BC064580.1.
            On Nov 1, 2013 this sequence version replaced XP_005253910.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream in-frame start codon, compared to variant 1. The encoded
            isoform (2) has a shorter N-terminus than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.193881.1, AK302207.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..523
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     Protein         1..523
                     /product="coiled-coil domain-containing protein 63 isoform
                     2"
                     /note="coiled-coil domain-containing protein 63; outer row
                     dynein assembly 5 homolog"
                     /calculated_mol_wt=61324
     Region          <13..381
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..523
                     /gene="CCDC63"
                     /gene_synonym="ODA5"
                     /coded_by="NM_001286243.2:231..1802"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS66470.1"
                     /db_xref="GeneID:160762"
                     /db_xref="HGNC:HGNC:26669"
                     /db_xref="MIM:617969"
ORIGIN      
        1 mvesrksfkf rnqqkiasqy keiktlkteq deitlllslm kssrnmnrse knymelrlll
       61 qtkedyeali kslkvllael dekilqmekk ianqkqifak mqeannprkl qkqihiletr
      121 lnlvtvhfdk mlttnaklrk eiedlrfeka aydnvyqqlq hcllmekktm nlaieqssqa
      181 yeqrveamar maamkdrqkk dtsqynleir elerlyahes klksfllvkl ndrnefeeqa
      241 kreealkakk hvkknrgesf esyevahlrl lklaesgnln qliedflake eknfarftyv
      301 telnndmemm hkrtqriqde iillrsqqkl shddnhsvlr qledklrktt eeadmyesky
      361 gevsktldll knsveklfkk incdatkilv qlgetgkvtd inlpqyfaii ekktndllll
      421 etyrrileve gaeaeipppf inpfwggsal lkppepikvi ppvlgadpfs drlddveqpl
      481 dhsslrqlvl dnyilkenrs kevrgdslpe kvddfrsrkk vtm
//
LOCUS       NP_072103                199 aa            linear   PRI 26-DEC-2022
DEFINITION  chorionic somatomammotropin hormone-like 1 isoform 2 precursor
            [Homo sapiens].
ACCESSION   NP_072103
VERSION     NP_072103.1
DBSOURCE    REFSEQ: accession NM_022581.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 199)
  AUTHORS   Premzl M.
  TITLE     Curated eutherian third party data gene data sets
  JOURNAL   Data Brief 6, 208-213 (2015)
   PUBMED   26862561
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 199)
  AUTHORS   Premzl M.
  TITLE     Third party data gene data set of eutherian growth hormone genes
  JOURNAL   Genom Data 6, 166-169 (2015)
   PUBMED   26697363
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 199)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (residues 1 to 199)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 199)
  AUTHORS   Misra-Press A, Cooke NE and Liebhaber SA.
  TITLE     Complex alternative splicing partially inactivates the human
            chorionic somatomammotropin-like (hCS-L) gene
  JOURNAL   J Biol Chem 269 (37), 23220-23229 (1994)
   PUBMED   8083227
REFERENCE   6  (residues 1 to 199)
  AUTHORS   MacLeod JN, Lee AK, Liebhaber SA and Cooke NE.
  TITLE     Developmental control and alternative splicing of the placentally
            expressed transcripts from the human growth hormone gene cluster
  JOURNAL   J Biol Chem 267 (20), 14219-14226 (1992)
   PUBMED   1378436
REFERENCE   7  (residues 1 to 199)
  AUTHORS   Vnencak-Jones CL and Phillips JA 3rd.
  TITLE     Hot spots for growth hormone gene deletions in homologous regions
            outside of Alu repeats
  JOURNAL   Science 250 (4988), 1745-1748 (1990)
   PUBMED   1980158
REFERENCE   8  (residues 1 to 199)
  AUTHORS   Chen EY, Liao YC, Smith DH, Barrera-Saldana HA, Gelinas RE and
            Seeburg PH.
  TITLE     The human growth hormone locus: nucleotide sequence, biology, and
            evolution
  JOURNAL   Genomics 4 (4), 479-497 (1989)
   PUBMED   2744760
REFERENCE   9  (residues 1 to 199)
  AUTHORS   Hirt,H., Kimelman,J., Birnbaum,M.J., Chen,E.Y., Seeburg,P.H.,
            Eberhardt,N.L. and Barta,A.
  TITLE     The human growth hormone gene locus: structure, evolution, and
            allelic variations
  JOURNAL   DNA 6 (1), 59-70 (1987)
   PUBMED   3030680
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC127029.12 and BU752103.1.
            
            Summary: The protein encoded by this gene is a member of the
            somatotropin/prolactin family of hormones which play an important
            role in growth control. The gene, along with four other related
            genes, is located at the growth hormone locus on chromosome 17
            where they are interspersed in the same transcriptional
            orientation; an arrangement which is thought to have evolved by a
            series of gene duplications. Although the five genes share a
            remarkably high degree of sequence identity, they are expressed
            selectively in different tissues. This particular family member is
            expressed in placental villi, although it was originally thought to
            be a pseudogene. In fact, alternative splicing suggests that the
            majority of the transcripts would be unable to express a secreted
            protein. Alternatively spliced transcript variants encoding
            different isoforms have been identified. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (2), also known as CS-L(L), lacks
            an in-frame segment of the coding region, compared to variant 1. It
            encodes a shorter isoform (2), that is missing an internal segment
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: GQ891442.1, ERR279848.481.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149398, SAMEA2162568
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..199
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     Protein         1..199
                     /product="chorionic somatomammotropin hormone-like 1
                     isoform 2 precursor"
                     /note="chorionic somatomammotropin CS-5; growth hormone
                     cluster; growth hormone B4; epididymis secretory sperm
                     binding protein"
                     /calculated_mol_wt=19963
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2704
     Region          35..197
                     /region_name="growth_hormone_like"
                     /note="Somatotropin/prolactin hormone family; cl07831"
                     /db_xref="CDD:324147"
     Site            order(35,38..39,41..42,44,47..48,51,69,75..76,121,124,
                     127..128,131,172,175..176,179..180,182..184,186..187,190,
                     197)
                     /site_type="other"
                     /note="receptor binding interface [polypeptide binding]"
                     /db_xref="CDD:198434"
     CDS             1..199
                     /gene="CSHL1"
                     /gene_synonym="CS-5; CSHP1; CSL; GHB4; hCS-L"
                     /coded_by="NM_022581.3:63..662"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="GeneID:1444"
                     /db_xref="HGNC:HGNC:2442"
                     /db_xref="MIM:603515"
ORIGIN      
        1 maagsrtsll lafallclpw lqeagavqtv plsrlfkeam lqahrahqla idtyqefiss
       61 wgmdsiptss nmeetqqksn lellhislll iesrlepvrf lrstftnnlv ydtsdsddyh
      121 llkdleegiq mlmgrledgs hltgqtlkqt yskfdtnshn hdallknygl lhcfrkdmdk
      181 vetflrmvqc rsvegscgf
//
LOCUS       NP_001337389             972 aa            linear   PRI 26-DEC-2022
DEFINITION  regulating synaptic membrane exocytosis protein 1 isoform 54 [Homo
            sapiens].
ACCESSION   NP_001337389
VERSION     NP_001337389.1
DBSOURCE    REFSEQ: accession NM_001350460.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 972)
  AUTHORS   Hirano M, Takada Y, Wong CF, Yamaguchi K, Kotani H, Kurokawa T,
            Mori MX, Snutch TP, Ronjat M, De Waard M and Mori Y.
  TITLE     C-terminal splice variants of P/Q-type Ca2+ channel CaV2.1 alpha1
            subunits are differentially regulated by Rab3-interacting molecule
            proteins
  JOURNAL   J Biol Chem 292 (22), 9365-9381 (2017)
   PUBMED   28377503
  REMARK    GeneRIF: Electrophysiological characterization of VDCC currents
            revealed that the suppressive effect of RIM2alpha on
            voltage-dependent inactivation (VDI) was stronger than that of
            RIM1alpha for the CaV2.1 variant containing the region encoded by
            exons 44 and 47.
REFERENCE   2  (residues 1 to 972)
  AUTHORS   Warwick AN, Shawkat F and Lotery AJ.
  TITLE     Retinitis pigmentosa and bilateral cystoid macular oedema in a
            patient heterozygous for the RIM1 mutation previously associated
            with cone-rod dystrophy 7
  JOURNAL   Ophthalmic Genet 38 (2), 178-182 (2017)
   PUBMED   27176872
  REMARK    GeneRIF: This is the first reported case of bilateral cystoid
            macular edema in association with the RIM1 mutation. Overall, our
            findings were more consistent with a phenotype of retinitis
            pigmentosa.
REFERENCE   3  (residues 1 to 972)
  AUTHORS   Ruhle F, Witten A, Barysenka A, Huge A, Arning A, Heller C, Krumpel
            A, Mesters R, Franke A, Lieb W, Riemenschneider M, Hiersche M,
            Limperger V, Nowak-Gottl U and Stoll M.
  TITLE     Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to
            pediatric venous thromboembolism
  JOURNAL   Blood 129 (6), 783-790 (2017)
   PUBMED   28011674
  REMARK    GeneRIF: The study identified a region on chromosome 6 comprising
            the genes SMAP1, B3GAT2, and RIMS1 as novel susceptibility locus
            for pediatric venous thromboembolism.
REFERENCE   4  (residues 1 to 972)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   5  (residues 1 to 972)
  AUTHORS   Cornejo-Garcia JA, Liou LB, Blanca-Lopez N, Dona I, Chen CH, Chou
            YC, Chuang HP, Wu JY, Chen YT, Plaza-Seron Mdel C, Mayorga C,
            Gueant-Rodriguez RM, Lin SC, Torres MJ, Campo P, Rondon C, Laguna
            JJ, Fernandez J, Gueant JL, Canto G, Blanca M and Lee MT.
  TITLE     Genome-wide association study in NSAID-induced acute
            urticaria/angioedema in Spanish and Han Chinese populations
  JOURNAL   Pharmacogenomics 14 (15), 1857-1869 (2013)
   PUBMED   24236485
REFERENCE   6  (residues 1 to 972)
  AUTHORS   Wang Y, Liu X, Biederer T and Sudhof TC.
  TITLE     A family of RIM-binding proteins regulated by alternative splicing:
            Implications for the genesis of synaptic active zones
  JOURNAL   Proc Natl Acad Sci U S A 99 (22), 14464-14469 (2002)
   PUBMED   12391317
REFERENCE   7  (residues 1 to 972)
  AUTHORS   Ohtsuka T, Takao-Rikitsu E, Inoue E, Inoue M, Takeuchi M, Matsubara
            K, Deguchi-Tawarada M, Satoh K, Morimoto K, Nakanishi H and Takai
            Y.
  TITLE     Cast: a novel protein of the cytomatrix at the active zone of
            synapses that forms a ternary complex with RIM1 and munc13-1
  JOURNAL   J Cell Biol 158 (3), 577-590 (2002)
   PUBMED   12163476
REFERENCE   8  (residues 1 to 972)
  AUTHORS   Schoch S, Castillo PE, Jo T, Mukherjee K, Geppert M, Wang Y,
            Schmitz F, Malenka RC and Sudhof TC.
  TITLE     RIM1alpha forms a protein scaffold for regulating neurotransmitter
            release at the active zone
  JOURNAL   Nature 415 (6869), 321-326 (2002)
   PUBMED   11797009
REFERENCE   9  (residues 1 to 972)
  AUTHORS   Coppola T, Magnin-Luthi S, Perret-Menoud V, Gattesco S, Schiavo G
            and Regazzi R.
  TITLE     Direct interaction of the Rab3 effector RIM with Ca2+ channels,
            SNAP-25, and synaptotagmin
  JOURNAL   J Biol Chem 276 (35), 32756-32762 (2001)
   PUBMED   11438518
REFERENCE   10 (residues 1 to 972)
  AUTHORS   Betz A, Thakur P, Junge HJ, Ashery U, Rhee JS, Scheuss V, Rosenmund
            C, Rettig J and Brose N.
  TITLE     Functional interaction of the active zone proteins Munc13-1 and
            RIM1 in synaptic vesicle priming
  JOURNAL   Neuron 30 (1), 183-196 (2001)
   PUBMED   11343654
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590011.5, AL445256.18 and
            AL035633.18.
            
            Summary: The protein encoded by this gene is a RAS gene superfamily
            member that regulates synaptic vesicle exocytosis. This gene also
            plays a role in the regulation of voltage-gated calcium channels
            during neurotransmitter and insulin release. Mutations have
            suggested a role cognition and have been identified as the cause of
            cone-rod dystrophy type 7. Multiple transcript variants encoding
            different isoforms have been described for this gene. [provided by
            RefSeq, Mar 2012].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.67468.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465402, SAMN03465403
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..972
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q13"
     Protein         1..972
                     /product="regulating synaptic membrane exocytosis protein
                     1 isoform 54"
                     /note="RAB3-interacting protein 2; rab3-interacting
                     molecule 1; rab-3-interacting protein 2"
                     /calculated_mol_wt=108404
     Region          78..163
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(89..92,94,146..147,150..151)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          216..342
                     /region_name="C2A_RIM1alpha"
                     /note="C2 domain first repeat contained in
                     Rab3-interacting molecule (RIM) proteins; cd04031"
                     /db_xref="CDD:175997"
     Site            order(247,253,308,310,318)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:175997"
     Region          345..>574
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          803..948
                     /region_name="C2B_RIM1alpha"
                     /note="C2 domain second repeat contained in
                     Rab3-interacting molecule (RIM) proteins; cd04028"
                     /db_xref="CDD:175994"
     Site            order(860,864..865,867,870,898,900,902,946..947)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:175994"
     CDS             1..972
                     /gene="RIMS1"
                     /gene_synonym="CORD7; RAB3IP2; RIM; RIM1"
                     /coded_by="NM_001350460.2:231..3149"
                     /note="isoform 54 is encoded by transcript variant 54"
                     /db_xref="GeneID:22999"
                     /db_xref="HGNC:HGNC:17282"
                     /db_xref="MIM:606629"
ORIGIN      
        1 mcapgihvss egweevrsvd seegtiearr avagdldyyw ldpatwhsre tspisshpvt
       61 wqpskegdrl igrvilnkrt tmpkdsgall glkvvggkmt dlgrlgafit kvkkgsladv
      121 vghlragdev lewngkplpg atneevynii lesksepqve iivsrpigdi pripesshpp
      181 lesssssfes qkmerpsisv isptspgalk dapqvlpgql svklwydkvg hqlivnvlqa
      241 tdlparvdgr prnpyvkmyf lpdrsdkskr rtktvkkile pkwnqtfvys hvhrrdfrer
      301 mleitvwdqp rvqeeesefl geilieleta llddephwyk lqthdesslp lpqpspfmpr
      361 rhihgesssk klqrsqrisd sdisdyevdd gigvvppvgy rssareskst tltvpeqqrt
      421 thhrsrsvsp hrgndqgkpr srlpnvplqr sldeihptrr srsptrhhda srspvdhrtr
      481 dvdsqylseq drhsrksers siqkqtrkgt asdaermhrq rsptqsppad tsfssrrgrq
      541 lpqvpvrsgs ieqeqekyns stkaslvvee rtrqmkmkvh rfkqttgsgs sqeldreqys
      601 kynihkdqyr scdnvsakss dsdvsdvsai srtssasrls stsfmseqse rprgrissft
      661 pkmqgrrmgt sgrsimksts vsgemytleh ndgsqsdtav gtvgaggkkr rsslsakvva
      721 ivsrrsrsts qlsqtesghk klkstiqrst etgmaaemrk mvrqpsrest dgsinsysse
      781 gnlifpgvrl gadsqfsdfl dglgpaqlvg rqtlatpamg diqigmedkk gqlevevira
      841 rsltqkpgsk stpapyvkvy llengaciak kktriarktl dplyqqslvf despqgkvlq
      901 vivwgdygrm dhkcfmgvaq illeeldlss mvigwyklfp psslvdptlt pltrrasqss
      961 lesstgppci rs
//
LOCUS       NP_938201               2250 aa            linear   PRI 27-DEC-2022
DEFINITION  voltage-dependent T-type calcium channel subunit alpha-1G isoform
            12 [Homo sapiens].
ACCESSION   NP_938201
VERSION     NP_938201.1
DBSOURCE    REFSEQ: accession NM_198387.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2250)
  AUTHORS   Banderali U, Jain M, Thakur S, Jayanthan A, Belke DD, Giles WR and
            Narendran A.
  TITLE     The T-type Calcium Channel Cav3.1 in Y79 Retinoblastoma Cells is
            Regulated by the Epidermal Growth Factor Receptor via the MAPK
            Signaling Pathway
  JOURNAL   Curr Eye Res 47 (3), 426-435 (2022)
   PUBMED   34674590
  REMARK    GeneRIF: The T-type Calcium Channel Cav3.1 in Y79 Retinoblastoma
            Cells is Regulated by the Epidermal Growth Factor Receptor via the
            MAPK Signaling Pathway.
REFERENCE   2  (residues 1 to 2250)
  AUTHORS   Pan CC, Du ZH, Zhao Y, Chu HQ and Sun JW.
  TITLE     Downregulation of Cav3.1 T-type Calcium Channel Expression in
            Age-related Hearing Loss Model
  JOURNAL   Curr Med Sci 41 (4), 680-686 (2021)
   PUBMED   34403092
  REMARK    GeneRIF: Downregulation of Cav3.1 T-type Calcium Channel Expression
            in Age-related Hearing Loss Model.
REFERENCE   3  (residues 1 to 2250)
  AUTHORS   Li RF, Man QW, Liu JY, Zheng YY, Gao X and Liu HM.
  TITLE     Overexpression of T-type calcium channel Cav3.1 in oral squamous
            cell carcinoma: association with proliferation and anti-apoptotic
            activity
  JOURNAL   J Mol Histol 52 (3), 511-520 (2021)
   PUBMED   33394292
  REMARK    GeneRIF: Overexpression of T-type calcium channel Cav3.1 in oral
            squamous cell carcinoma: association with proliferation and
            anti-apoptotic activity.
REFERENCE   4  (residues 1 to 2250)
  AUTHORS   Casas-Alba D, Lopez-Sala L, Perez-Ordonez M, Mari-Vico R, Bolasell
            M, Martinez-Monseny AF, Muchart J, Fernandez-Fernandez JM,
            Martorell L and Serrano M.
  TITLE     Early-onset severe spinocerebellar ataxia 42 with
            neurodevelopmental deficits (SCA42ND): Case report, pharmacological
            trial, and literature review
  JOURNAL   Am J Med Genet A 185 (1), 256-260 (2021)
   PUBMED   33098379
  REMARK    GeneRIF: Early-onset severe spinocerebellar ataxia 42 with
            neurodevelopmental deficits (SCA42ND): Case report, pharmacological
            trial, and literature review.
REFERENCE   5  (residues 1 to 2250)
  AUTHORS   Berecki G, Helbig KL, Ware TL, Grinton B, Skraban CM, Marsh ED,
            Berkovic SF and Petrou S.
  TITLE     Novel Missense CACNA1G Mutations Associated with Infantile-Onset
            Developmental and Epileptic Encephalopathy
  JOURNAL   Int J Mol Sci 21 (17), 6333 (2020)
   PUBMED   32878331
  REMARK    GeneRIF: Novel Missense CACNA1G Mutations Associated with
            Infantile-Onset Developmental and Epileptic Encephalopathy.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 2250)
  AUTHORS   Monteil A, Chemin J, Bourinet E, Mennessier G, Lory P and Nargeot
            J.
  TITLE     Molecular and functional properties of the human alpha(1G) subunit
            that forms T-type calcium channels
  JOURNAL   J Biol Chem 275 (9), 6090-6100 (2000)
   PUBMED   10692398
REFERENCE   7  (residues 1 to 2250)
  AUTHORS   Cribbs LL, Gomora JC, Daud AN, Lee JH and Perez-Reyes E.
  TITLE     Molecular cloning and functional expression of Ca(v)3.1c, a T-type
            calcium channel from human brain
  JOURNAL   FEBS Lett 466 (1), 54-58 (2000)
   PUBMED   10648811
  REMARK    Erratum:[FEBS Lett 2000 Mar 31;470(3):378]
REFERENCE   8  (residues 1 to 2250)
  AUTHORS   Mittman S, Guo J and Agnew WS.
  TITLE     Structure and alternative splicing of the gene encoding alpha1G, a
            human brain T calcium channel alpha1 subunit
  JOURNAL   Neurosci Lett 274 (3), 143-146 (1999)
   PUBMED   10548410
REFERENCE   9  (residues 1 to 2250)
  AUTHORS   Toyota M, Ho C, Ohe-Toyota M, Baylin SB and Issa JP.
  TITLE     Inactivation of CACNA1G, a T-type calcium channel gene, by aberrant
            methylation of its 5' CpG island in human tumors
  JOURNAL   Cancer Res 59 (18), 4535-4541 (1999)
   PUBMED   10493502
REFERENCE   10 (residues 1 to 2250)
  AUTHORS   Perez-Reyes E, Cribbs LL, Daud A, Lacerda AE, Barclay J, Williamson
            MP, Fox M, Rees M and Lee JH.
  TITLE     Molecular characterization of a neuronal low-voltage-activated
            T-type calcium channel
  JOURNAL   Nature 391 (6670), 896-900 (1998)
   PUBMED   9495342
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021491.16, BC110995.1,
            AF126966.1, AC004590.1 and R43876.1.
            
            Summary: Voltage-sensitive calcium channels mediate the entry of
            calcium ions into excitable cells, and are also involved in a
            variety of calcium-dependent processes, including muscle
            contraction, hormone or neurotransmitter release, gene expression,
            cell motility, cell division, and cell death. This gene encodes a
            T-type, low-voltage activated calcium channel. The T-type channels
            generate currents that are both transient, owing to fast
            inactivation, and tiny, owing to small conductance. T-type channels
            are thought to be involved in pacemaker activity, low-threshold
            calcium spikes, neuronal oscillations and resonance, and rebound
            burst firing. Many alternatively spliced transcript variants
            encoding different isoforms have been described for this gene.
            [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (12) has multiple differences in
            the coding region but maintains the reading frame, compared to
            variant 1. The resulting isoform (12) is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF126966.1, DQ494455.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2156099, SAMN03465403
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2250
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     Protein         1..2250
                     /product="voltage-dependent T-type calcium channel subunit
                     alpha-1G isoform 12"
                     /note="voltage-dependent calcium channel alpha 1G subunit;
                     cav3.1c; calcium channel, voltage-dependent, T type, alpha
                     1G subunit; voltage-gated calcium channel subunit alpha
                     Cav3.1; voltage-dependent T-type calcium channel alpha 1G
                     subunit"
                     /calculated_mol_wt=249203
     Region          80..406
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          742..968
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1252..1524
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1576..1817
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          <1846..2229
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..2250
                     /gene="CACNA1G"
                     /gene_synonym="Ca(V)T.1; Cav3.1; NBR13; SCA42; SCA42ND"
                     /coded_by="NM_198387.3:746..7498"
                     /note="isoform 12 is encoded by transcript variant 12"
                     /db_xref="CCDS:CCDS45735.1"
                     /db_xref="GeneID:8913"
                     /db_xref="HGNC:HGNC:1394"
                     /db_xref="MIM:604065"
ORIGIN      
        1 mdeeedgaga eesgqprsfm rlndlsgagg rpgpgsaekd pgsadseaeg lpypalapvv
       61 ffylsqdsrp rswclrtvcn pwferismlv illncvtlgm frpcediacd sqrcrilqaf
      121 ddfifaffav emvvkmvalg ifgkkcylgd twnrldffiv iagmleysld lqnvsfsavr
      181 tvrvlrplra inrvpsmril vtllldtlpm lgnvlllcff vffifgivgv qlwagllrnr
      241 cflpenfslp lsvdleryyq tenedespfi csqprengmr scrsvptlrg dggggppcgl
      301 dyeaynsssn ttcvnwnqyy tncsagehnp fkgainfdni gyawiaifqv itlegwvdim
      361 yfvmdahsfy nfiyfillii vgsffminlc lvviatqfse tkqresqlmr eqrvrflsna
      421 stlasfsepg scyeellkyl vyilrkaarr laqvsraagv rvgllsspap lggqetqpss
      481 scsrshrrls vhhlvhhhhh hhhhyhlgng tlrapraspe iqdrdangsr rlmlpppstp
      541 alsgappgga esvhsfyhad chlepvrcqa ppprspseas grtvgsgkvy ptvhtspppe
      601 tlkekalvev aassgpptlt slnippgpys smhklletqs tgacqsscki sspclkadsg
      661 acgpdscpyc aragagevel adrempdsds eavyeftqda qhsdlrdphs rrqrslgpda
      721 epssvlafwr licdtfrkiv dskyfgrgim iailvntlsm gieyheqpee ltnaleisni
      781 vftslfalem llkllvygpf gyiknpynif dgvivvisvw eivgqqgggl svlrtfrlmr
      841 vlklvrflpa lqrqlvvlmk tmdnvatfcm llmlfififs ilgmhlfgck faserdgdtl
      901 pdrknfdsll waivtvfqil tqedwnkvly ngmastsswa alyfialmtf gnyvlfnllv
      961 ailvegfqae gdanksesep dffspsldgd gdrkkclalv slgehpelrk sllppliiht
     1021 aatpmslpks tstglgealg pasrrtsssg saepgaahem ksppsarssp hspwsaassw
     1081 tsrrssrnsl grapslkrrs psgerrslls gegqesqdee esseeerasp agsdhrhrgs
     1141 lereakssfd lpdtlqvpgl hrtasgrgsa sehqdcngks asgrlaralr pddppldgdd
     1201 addegnlskg ervrawirar lpacclerds wsayifppqs rfrllchrii thkmfdhvvl
     1261 viiflnciti amerpkidph saerifltls nyiftavfla emtvkvvalg wcfgeqaylr
     1321 sswnvldgll vlisvidilv smvsdsgtki lgmlrvlrll rtlrplrvis raqglklvve
     1381 tlmsslkpig nivviccaff iifgilgvql fkgkffvcqg edtrnitnks dcaeasyrwv
     1441 rhkynfdnlg qalmslfvla skdgwvdimy dgldavgvdq qpimnhnpwm llyfisflli
     1501 vaffvlnmfv gvvvenfhkc rqhqeeeear rreekrlrrl ekkrrskekq maeaqckpyy
     1561 sdysrfrllv hhlctshyld lfitgvigln vvtmamehyq qpqildealk icnyiftvif
     1621 vlesvfklva fgfrrffqdr wnqldlaivl lsimgitlee ievnaslpin ptiirimrvl
     1681 riarvlkllk mavgmralld tvmqalpqvg nlgllfmllf fifaalgvel fgdlecdeth
     1741 pceglgrhat frnfgmaflt lfrvstgdnw ngimkdtlrd cdqestcynt vispiyfvsf
     1801 vltaqfvlvn vviavlmkhl eesnkeakee aeleaelele mktlspqphs plgspflwpg
     1861 vegpdspdsp kpgalhpaah arsashfsle hptmqphpte lpgpdlltvr ksgvsrthsl
     1921 pndsymcrhg staegplghr gwglpkaqsg svlsvhsqpa dtsyilqlpk daphllqphs
     1981 aptwgtipkl pppgrsplaq rplrrqaair tdsldvqglg sredllaevs gpspplaray
     2041 sfwgqsstqa qqhsrshski skhmtppapc pgpepnwgkg ppetrsslel dtelswisgd
     2101 llppggqeep psprdlkkcy sveaqscqrr ptswldeqrr hsiavsclds gsqphlgtdp
     2161 snlggqplgg pgsrpkkkls ppsitidppe sqgprtppsp giclrrraps sdskdplasg
     2221 ppdsmaasps pkkdvlslsg lssdpadldp
//
LOCUS       NP_001307965             187 aa            linear   PRI 27-DEC-2022
DEFINITION  probable proton-coupled zinc antiporter SLC30A4 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001307965
VERSION     NP_001307965.1
DBSOURCE    REFSEQ: accession NM_001321036.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 187)
  AUTHORS   Lo ST, Parrott D, Jordan MVC, Joseph DB, Strand D, Lo UG, Lin H,
            Darehshouri A and Sherry AD.
  TITLE     The Roles of ZnT1 and ZnT4 in Glucose-Stimulated Zinc Secretion in
            Prostate Epithelial Cells
  JOURNAL   Mol Imaging Biol 23 (2), 230-240 (2021)
   PUBMED   33140261
  REMARK    GeneRIF: The Roles of ZnT1 and ZnT4 in Glucose-Stimulated Zinc
            Secretion in Prostate Epithelial Cells.
REFERENCE   2  (residues 1 to 187)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 187)
  AUTHORS   Rafalo-Ulinska A, Piotrowska J, Kryczyk A, Opoka W, Sowa-Kucma M,
            Misztak P, Rajkowska G, Stockmeier CA, Datka W, Nowak G and
            Szewczyk B.
  TITLE     Zinc transporters protein level in postmortem brain of depressed
            subjects and suicide victims
  JOURNAL   J Psychiatr Res 83, 220-229 (2016)
   PUBMED   27661418
  REMARK    GeneRIF: There was a significant increase in protein levels of ZnT4
            in the prefrontal cortex in Major depression disorder, relative to
            control subjects.
REFERENCE   4  (residues 1 to 187)
  AUTHORS   Zhao Y, Feresin RG, Falcon-Perez JM and Salazar G.
  TITLE     Differential Targeting of SLC30A10/ZnT10 Heterodimers to
            Endolysosomal Compartments Modulates EGF-Induced MEK/ERK1/2
            Activity
  JOURNAL   Traffic 17 (3), 267-288 (2016)
   PUBMED   26728129
REFERENCE   5  (residues 1 to 187)
  AUTHORS   Golan Y, Berman B and Assaraf YG.
  TITLE     Heterodimerization, altered subcellular localization, and function
            of multiple zinc transporters in viable cells using bimolecular
            fluorescence complementation
  JOURNAL   J Biol Chem 290 (14), 9050-9063 (2015)
   PUBMED   25657003
REFERENCE   6  (residues 1 to 187)
  AUTHORS   Nakano,A., Nakano,H., Hanada,K., Nomura,K. and Uitto,J.
  TITLE     ZNT4 gene is not responsible for acrodermatitis enteropathica in
            Japanese families
  JOURNAL   Hum Genet 110 (2), 201-202 (2002)
   PUBMED   11935329
  REMARK    GeneRIF: not responsible for acrodermatitis enteropathica in
            Japanese families
REFERENCE   7  (residues 1 to 187)
  AUTHORS   Bleck O, Ashton GH, Mallipeddi R, South AP, Whittock NV, McLean WH,
            Atherton DJ and McGrath JA.
  TITLE     Genomic localization, organization and amplification of the human
            zinc transporter protein gene, ZNT4, and exclusion as a candidate
            gene in different clinical variants of acrodermatitis enteropathica
  JOURNAL   Arch Dermatol Res 293 (8), 392-396 (2001)
   PUBMED   11686514
  REMARK    GeneRIF: Genomic localization, organization; exclusion in variants
            of acrodermatitis enteropathica.
REFERENCE   8  (residues 1 to 187)
  AUTHORS   Kury S, Devilder MC, Avet-Loiseau H, Dreno B and Moisan JP.
  TITLE     Expression pattern, genomic structure and evaluation of the human
            SLC30A4 gene as a candidate for acrodermatitis enteropathica
  JOURNAL   Hum Genet 109 (2), 178-185 (2001)
   PUBMED   11511923
REFERENCE   9  (residues 1 to 187)
  AUTHORS   Murgia C, Vespignani I, Cerase J, Nobili F and Perozzi G.
  TITLE     Cloning, expression, and vesicular localization of zinc transporter
            Dri 27/ZnT4 in intestinal tissue and cells
  JOURNAL   Am J Physiol 277 (6), G1231-G1239 (1999)
   PUBMED   10600821
REFERENCE   10 (residues 1 to 187)
  AUTHORS   Huang L and Gitschier J.
  TITLE     A novel gene involved in zinc transport is deficient in the lethal
            milk mouse
  JOURNAL   Nat Genet 17 (3), 292-297 (1997)
   PUBMED   9354792
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY026192.1, BM789500.1 and AC025580.8.
            
            Summary: Zinc is the second most abundant trace metal in the human
            body. It is an essential element, serving both a structural role,
            as in the formation of zinc fingers in DNA-binding proteins, and a
            catalytic role in metalloenzymes, such as pancreatic
            carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g.,
            MIM 171760), various dehydrogenases, and superoxide dismutases
            (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of
            zinc transporters. ZNTs are involved in transporting zinc out of
            the cytoplasm and have similar structures, consisting of 6
            transmembrane domains and a histidine-rich cytoplasmic loop (Huang
            and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM, Mar 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.184427.1,
                                           ERR3218378.697097.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..187
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     Protein         1..187
                     /product="probable proton-coupled zinc antiporter SLC30A4
                     isoform 2"
                     /note="zinc transporter 4; solute carrier family 30 (zinc
                     transporter), member 4; probable proton-coupled zinc
                     antiporter SLC30A4"
                     /calculated_mol_wt=20472
     Region          109..>180
                     /region_name="CzcD"
                     /note="Co/Zn/Cd efflux system component [Inorganic ion
                     transport and metabolism]; COG1230"
                     /db_xref="CDD:224151"
     Site            114..134
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O14863.2)"
     Site            144..164
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O14863.2)"
     CDS             1..187
                     /gene="SLC30A4"
                     /gene_synonym="znT-4; ZNT4"
                     /coded_by="NM_001321036.2:264..827"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:7782"
                     /db_xref="HGNC:HGNC:11015"
                     /db_xref="MIM:602095"
ORIGIN      
        1 magsgawkrl ksmlrkddap lflndtsafd fsdeagdegl srfnklrvvv addgseaper
       61 pvngahptlq adddslldqd lpltnsqlsl kvdscdncsk qreilkqrkv karltiaavl
      121 yllfmigelv ggyianslai mtdalhmltd lsaiiltlla lwlssksptk rftfgfhrlg
      181 wntmtps
//
LOCUS       NP_001274271             127 aa            linear   PRI 27-DEC-2022
DEFINITION  14 kDa phosphohistidine phosphatase isoform 4 [Homo sapiens].
ACCESSION   NP_001274271
VERSION     NP_001274271.1
DBSOURCE    REFSEQ: accession NM_001287342.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 127)
  AUTHORS   Zhang N, Liao Y, Lv W, Zhu S, Qiu Y, Chen N, Xiao M and Zhang H.
  TITLE     FBXO32 targets PHPT1 for ubiquitination to regulate the growth of
            EGFR mutant lung cancer
  JOURNAL   Cell Oncol (Dordr) 45 (2), 293-307 (2022)
   PUBMED   35411430
  REMARK    GeneRIF: FBXO32 targets PHPT1 for ubiquitination to regulate the
            growth of EGFR mutant lung cancer.
REFERENCE   2  (residues 1 to 127)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 127)
  AUTHORS   Cruz-Garcia L, O'Brien G, Donovan E, Gothard L, Boyle S, Laval A,
            Testard I, Ponge L, Wozniak G, Miszczyk L, Candeias SM, Ainsbury E,
            Widlak P, Somaiah N and Badie C.
  TITLE     Influence of Confounding Factors on Radiation Dose Estimation Using
            In Vivo Validated Transcriptional Biomarkers
  JOURNAL   Health Phys 115 (1), 90-101 (2018)
   PUBMED   29787434
  REMARK    GeneRIF: High PHPT1 expression is associated with cancer.
REFERENCE   4  (residues 1 to 127)
  AUTHORS   McCullough BS and Barrios AM.
  TITLE     Facile, Fluorogenic Assay for Protein Histidine Phosphatase
            Activity
  JOURNAL   Biochemistry 57 (18), 2584-2589 (2018)
   PUBMED   29630837
  REMARK    GeneRIF: In the process of assay optimization, we discovered that
            PHPT1 is sensitive to a reducing environment and inhibited by
            transition-metal ions, with one apparent Cu(II) binding site with
            IC50 value of 500 +/- 20 muM and two apparent Zn(II) binding sites
            with IC50 values of 25 +/- 1 and 490 +/- 20 muM
REFERENCE   5  (residues 1 to 127)
  AUTHORS   Xu A, Li Y, Zhao W, Hou F, Li X, Sun L, Chen W, Yang A, Wu S, Zhang
            B, Yao J, Wang H and Huang J.
  TITLE     PHP14 regulates hepatic stellate cells migration in liver fibrosis
            via mediating TGF-beta1 signaling to PI3Kgamma/AKT/Rac1 pathway
  JOURNAL   J Mol Med (Berl) 96 (2), 119-133 (2018)
   PUBMED   29098317
  REMARK    GeneRIF: Our study reveals the important role of PHP14 in
            regulating hepatic stellate cell migration in liver fibrosis
REFERENCE   6  (residues 1 to 127)
  AUTHORS   Bruneel A, Labas V, Mailloux A, Sharma S, Royer N, Vinh J, Pernet
            P, Vaubourdolle M and Baudin B.
  TITLE     Proteomics of human umbilical vein endothelial cells applied to
            etoposide-induced apoptosis
  JOURNAL   Proteomics 5 (15), 3876-3884 (2005)
   PUBMED   16130169
REFERENCE   7  (residues 1 to 127)
  AUTHORS   Ek P, Pettersson G, Ek B, Gong F, Li JP and Zetterqvist O.
  TITLE     Identification and characterization of a mammalian 14-kDa
            phosphohistidine phosphatase
  JOURNAL   Eur J Biochem 269 (20), 5016-5023 (2002)
   PUBMED   12383260
  REMARK    GeneRIF: Northern blot analysis indicated that the human
            phosphohistidine phosphatase mRNA was present preferentially in
            heart and skeletal muscle.
REFERENCE   8  (residues 1 to 127)
  AUTHORS   Lai CH, Chiu JY and Lin W.
  TITLE     Identification of the human crooked neck gene by comparative gene
            identification
  JOURNAL   Biochim Biophys Acta 1517 (3), 449-454 (2001)
   PUBMED   11342225
REFERENCE   9  (residues 1 to 127)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   10 (residues 1 to 127)
  AUTHORS   Lanfranchi,G., Muraro,T., Caldara,F., Pacchioni,B., Pallavicini,A.,
            Pandolfo,D., Toppo,S., Trevisan,S., Scarso,S. and Valle,G.
  TITLE     Identification of 4370 expressed sequence tags from a
            3'-end-specific cDNA library of human skeletal muscle by DNA
            sequencing and filter hybridization
  JOURNAL   Genome Res 6 (1), 35-42 (1996)
   PUBMED   8681137
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355987.31.
            
            Summary: This gene encodes an enzyme that catalyzes the reversible
            dephosphorylation of histidine residues in proteins. It may be
            involved in the dephosphorylation of G-beta and ATP citrate lyase
            and in negatively regulating CD4 T lymphocytes by dephosphorylation
            and inhibition of KCa3.1 channels. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Dec 2013].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BP375594.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..127
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     Protein         1..127
                     /product="14 kDa phosphohistidine phosphatase isoform 4"
                     /EC_number="3.9.1.3"
                     /note="14 kDa phosphohistidine phosphatase; sex-regulated
                     protein janus-a; protein janus-A homolog; epididymis
                     secretory sperm binding protein Li 132P; protein histidine
                     phosphatase"
                     /calculated_mol_wt=13888
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (Q9NRX4.1)"
     Region          6..119
                     /region_name="Ocnus"
                     /note="Janus/Ocnus family (Ocnus); pfam05005"
                     /db_xref="CDD:428253"
     CDS             1..127
                     /gene="PHPT1"
                     /gene_synonym="CGI-202; HEL-S-132P; HSPC141; PHP; PHP14"
                     /coded_by="NM_001287342.2:23..406"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:29085"
                     /db_xref="HGNC:HGNC:30033"
                     /db_xref="MIM:610167"
ORIGIN      
        1 mavadlalip dvdidsdgvf kyvlirvhsa prsgapaaes keivrgykwa eyhgeadiyd
       61 kvsgdmqkqg cdceclgggr ishqsqdkki hvygysmayg paqhaistek ikakypdyev
      121 twandgy
//
LOCUS       NP_001358263             120 aa            linear   PRI 27-DEC-2022
DEFINITION  prostaglandin reductase 2 isoform 5 [Homo sapiens].
ACCESSION   NP_001358263
VERSION     NP_001358263.1
DBSOURCE    REFSEQ: accession NM_001371334.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 120)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 120)
  AUTHORS   Chang EY, Chang YC, Shun CT, Tien YW, Tsai SH, Hee SW, Chen IJ and
            Chuang LM.
  TITLE     Inhibition of Prostaglandin Reductase 2, a Putative Oncogene
            Overexpressed in Human Pancreatic Adenocarcinoma, Induces Oxidative
            Stress-Mediated Cell Death Involving xCT and CTH Gene Expressions
            through 15-Keto-PGE2
  JOURNAL   PLoS One 11 (1), e0147390 (2016)
   PUBMED   26820738
  REMARK    GeneRIF: Silencing of PTGR2 expression enhances reactive oxygen
            species production, suppresses pancreatic cell proliferation, and
            promotes cell death through increasing 15-keto-PGE2.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 120)
  AUTHORS   Chang EY, Tsai SH, Shun CT, Hee SW, Chang YC, Tsai YC, Tsai JS,
            Chen HJ, Chou JW, Lin SY and Chuang LM.
  TITLE     Prostaglandin reductase 2 modulates ROS-mediated cell death and
            tumor transformation of gastric cancer cells and is associated with
            higher mortality in gastric cancer patients
  JOURNAL   Am J Pathol 181 (4), 1316-1326 (2012)
   PUBMED   22998775
  REMARK    GeneRIF: Functional data and clinical relevance for the role of
            PTGR2 in gastric cancer, are provided.
REFERENCE   4  (residues 1 to 120)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 120)
  AUTHORS   Wu YH, Ko TP, Guo RT, Hu SM, Chuang LM and Wang AH.
  TITLE     Structural basis for catalytic and inhibitory mechanisms of human
            prostaglandin reductase PTGR2
  JOURNAL   Structure 16 (11), 1714-1723 (2008)
   PUBMED   19000823
  REMARK    GeneRIF: Besides targeting cyclooxygenase, indomethacin inhibits
            PTGR2 with a binding mode similar to that of 15-keto-PGE(2).
REFERENCE   6  (residues 1 to 120)
  AUTHORS   Gao K, Lockwood WW, Li J, Lam W and Li G.
  TITLE     Genomic analyses identify gene candidates for acquired irinotecan
            resistance in melanoma cells
  JOURNAL   Int J Oncol 32 (6), 1343-1349 (2008)
   PUBMED   18497997
REFERENCE   7  (residues 1 to 120)
  AUTHORS   Chou WL, Chuang LM, Chou CC, Wang AH, Lawson JA, FitzGerald GA and
            Chang ZF.
  TITLE     Identification of a novel prostaglandin reductase reveals the
            involvement of prostaglandin E2 catabolism in regulation of
            peroxisome proliferator-activated receptor gamma activation
  JOURNAL   J Biol Chem 282 (25), 18162-18172 (2007)
   PUBMED   17449869
REFERENCE   8  (residues 1 to 120)
  AUTHORS   Zhang L, Zhang F and Huo K.
  TITLE     Cloning and characterization of a novel splicing variant of the
            ZADH1 gene
  JOURNAL   Cytogenet Genome Res 103 (1-2), 79-83 (2003)
   PUBMED   15004468
  REMARK    GeneRIF: Cloning and tissue distribution of a splicing variant
            ZADH1b.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005520.2.
            
            Summary: This gene encodes an enzyme involved in the metabolism of
            prostaglandins. The encoded protein catalyzes the NADPH-dependent
            conversion of 15-keto-prostaglandin E2 to
            15-keto-13,14-dihydro-prostaglandin E2. This protein may also be
            involved in regulating activation of the peroxisome
            proliferator-activated receptor. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Apr 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HY014474.1, SRR1803616.6947.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..120
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     Protein         1..120
                     /product="prostaglandin reductase 2 isoform 5"
                     /EC_number="1.3.1.48"
                     /note="15-oxoprostaglandin-delta13-reductase; zinc binding
                     alcohol dehydrogenase, domain containing 1; PRG-2;
                     15-oxoprostaglandin 13-reductase; zinc-binding alcohol
                     dehydrogenase domain-containing protein 1; epididymis
                     secretory protein Li 298; epididymis secretory sperm
                     binding protein"
                     /calculated_mol_wt=13611
     Region          1..>117
                     /region_name="MDR"
                     /note="Medium chain reductase/dehydrogenase
                     (MDR)/zinc-dependent alcohol dehydrogenase-like family;
                     cl16912"
                     /db_xref="CDD:450120"
     CDS             1..120
                     /gene="PTGR2"
                     /gene_synonym="HEL-S-298; PGR2; ZADH1"
                     /coded_by="NM_001371334.1:161..523"
                     /note="isoform 5 is encoded by transcript variant 12"
                     /db_xref="GeneID:145482"
                     /db_xref="HGNC:HGNC:20149"
                     /db_xref="MIM:608642"
ORIGIN      
        1 mivqrvvlns rpgkngnpva enfrmeevyl pdninegqvq vrtlylsvdp ymrcrmnedt
       61 gtdyitpwql sqvvdgggig iieeskhtnl tkgdfvtsfy wpwqtkvild gnslekviyi
//
LOCUS       NP_078785                628 aa            linear   PRI 27-DEC-2022
DEFINITION  leucine-rich repeat and fibronectin type-III domain-containing
            protein 3 precursor [Homo sapiens].
ACCESSION   NP_078785
VERSION     NP_078785.1
DBSOURCE    REFSEQ: accession NM_024509.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 628)
  AUTHORS   Morimura N, Inoue T, Katayama K and Aruga J.
  TITLE     Comparative analysis of structure, expression and PSD95-binding
            capacity of Lrfn, a novel family of neuronal transmembrane proteins
  JOURNAL   Gene 380 (2), 72-83 (2006)
   PUBMED   16828986
REFERENCE   2  (residues 1 to 628)
  AUTHORS   Wang CY, Chang K, Petralia RS, Wang YX, Seabold GK and Wenthold RJ.
  TITLE     A novel family of adhesion-like molecules that interacts with the
            NMDA receptor
  JOURNAL   J Neurosci 26 (8), 2174-2183 (2006)
   PUBMED   16495444
REFERENCE   3  (residues 1 to 628)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF038458.1 and BC003578.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC003578.1, AY358127.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000246529.4/ ENSP00000246529.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..628
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     Protein         1..628
                     /product="leucine-rich repeat and fibronectin type-III
                     domain-containing protein 3 precursor"
                     /note="fibronectin type III, immunoglobulin and leucine
                     rich repeat domains 1; leucine-rich repeat and fibronectin
                     type-III domain-containing protein 3; synaptic
                     adhesion-like molecule 4"
                     /calculated_mol_wt=64616
     sig_peptide     1..16
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1662
     Region          60..83
                     /region_name="LRR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BTN0.1)"
     Region          <63..>222
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:227223"
     Region          63..84
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Site            81
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9BTN0.1)"
     Region          84..105
                     /region_name="LRR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BTN0.1)"
     Region          85..108
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          108..129
                     /region_name="LRR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BTN0.1)"
     Region          109..132
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          132..153
                     /region_name="LRR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BTN0.1)"
     Region          133..157
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          157..178
                     /region_name="LRR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BTN0.1)"
     Region          158..181
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          181..202
                     /region_name="LRR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BTN0.1)"
     Region          182..205
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          205..226
                     /region_name="LRR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BTN0.1)"
     Region          206..230
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          242..253
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          249..>281
                     /region_name="TPKR_C2"
                     /note="Tyrosine-protein kinase receptor C2 Ig-like domain;
                     cl15307"
                     /db_xref="CDD:449528"
     Region          296..383
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          313..317
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          326..330
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            339
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9BTN0.1)"
     Site            348
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9BTN0.1)"
     Region          349..353
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          363..368
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          376..379
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          382..430
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BTN0.1)"
     Site            393
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9BTN0.1)"
     Region          424..502
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            462
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9BTN0.1)"
     Site            540..560
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BTN0.1)"
     CDS             1..628
                     /gene="LRFN3"
                     /gene_synonym="FIGLER1; SALM4"
                     /coded_by="NM_024509.2:1199..3085"
                     /db_xref="CCDS:CCDS12483.1"
                     /db_xref="GeneID:79414"
                     /db_xref="HGNC:HGNC:28370"
                     /db_xref="MIM:612809"
ORIGIN      
        1 mailplllcl lplapasspp qsatpspcpr rcrcqtqslp lsvlcpgagl lfvppsldrr
       61 aaelrladnf iasvrrrdla nmtgllhlsl srntirhvaa gafadlralr alhldgnrlt
      121 slgegqlrgl vnlrhlilsn nqlaalaaga lddcaetled ldlsynnleq lpwealgrlg
      181 nvntlgldhn llasvpagaf srlhklarld mtsnrlttip pdplfsrlpl larprgspas
      241 alvlafggnp lhcncelvwl rrlareddle acasppalgg ryfwavgeee fvceppvvth
      301 rspplavpag rpaalrcrav gdpeprvrwv spqgrllgns srarafpngt lellvtepgd
      361 ggiftciaan aageataave ltvgpppppq lanstscdpp rdgdpdaltp psaasasakv
      421 adtgpptdrg vqvtehgata alvqwpdqrp ipgirmyqiq ynssaddilv yrmipaesrs
      481 flltdlasgr tydlcvlavy edsatgltat rpvgcarfst epalrpcgap hapflggtmi
      541 ialggvivas vlvfifvllm rykvhggqpp gkakipapvs svcsqtngal gptptpappa
      601 pepaalraht vvqldcepwg pghepvgp
//
LOCUS       NP_001362757             288 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger matrin-type protein 3 isoform 2 [Homo sapiens].
ACCESSION   NP_001362757
VERSION     NP_001362757.1
DBSOURCE    REFSEQ: accession NM_001375828.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 288)
  AUTHORS   Li Q, Xiao M, Shi Y, Hu J, Bi T, Wang C, Yan L and Li X.
  TITLE     eIF5B regulates the expression of PD-L1 in prostate cancer cells by
            interacting with Wig1
  JOURNAL   BMC Cancer 21 (1), 1022 (2021)
   PUBMED   34525951
  REMARK    GeneRIF: eIF5B regulates the expression of PD-L1 in prostate cancer
            cells by interacting with Wig1.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 288)
  AUTHORS   Muys BR, Anastasakis DG, Claypool D, Pongor L, Li XL, Grammatikakis
            I, Liu M, Wang X, Prasanth KV, Aladjem MI, Lal A and Hafner M.
  TITLE     The p53-induced RNA-binding protein ZMAT3 is a splicing regulator
            that inhibits the splicing of oncogenic CD44 variants in colorectal
            carcinoma
  JOURNAL   Genes Dev 35 (1-2), 102-116 (2021)
   PUBMED   33334821
  REMARK    GeneRIF: The p53-induced RNA-binding protein ZMAT3 is a splicing
            regulator that inhibits the splicing of oncogenic CD44 variants in
            colorectal carcinoma.
REFERENCE   3  (residues 1 to 288)
  AUTHORS   Bieging-Rolett KT, Kaiser AM, Morgens DW, Boutelle AM, Seoane JA,
            Van Nostrand EL, Zhu C, Houlihan SL, Mello SS, Yee BA, McClendon J,
            Pierce SE, Winters IP, Wang M, Connolly AJ, Lowe SW, Curtis C, Yeo
            GW, Winslow MM, Bassik MC and Attardi LD.
  TITLE     Zmat3 Is a Key Splicing Regulator in the p53 Tumor Suppression
            Program
  JOURNAL   Mol Cell 80 (3), 452-469 (2020)
   PUBMED   33157015
  REMARK    GeneRIF: Zmat3 Is a Key Splicing Regulator in the p53 Tumor
            Suppression Program.
REFERENCE   4  (residues 1 to 288)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 288)
  AUTHORS   Lee HC, Jung SH, Hwang HJ, Kang D, De S, Dudekula DB, Martindale
            JL, Park B, Park SK, Lee EK, Lee JH, Jeong S, Han K, Park HJ, Ko
            YG, Gorospe M and Lee JS.
  TITLE     WIG1 is crucial for AGO2-mediated ACOT7 mRNA silencing via
            miRNA-dependent and -independent mechanisms
  JOURNAL   Nucleic Acids Res 45 (11), 6894-6910 (2017)
   PUBMED   28472401
  REMARK    GeneRIF: WIG1 governs the miRNA-dependent and the miRNA-independent
            recruitment of AGO2 to lower the stability of and suppress the
            translation of ACOT7 mRNA.
REFERENCE   6  (residues 1 to 288)
  AUTHORS   Mendez Vidal C, Prahl M and Wiman KG.
  TITLE     The p53-induced Wig-1 protein binds double-stranded RNAs with
            structural characteristics of siRNAs and miRNAs
  JOURNAL   FEBS Lett 580 (18), 4401-4408 (2006)
   PUBMED   16844115
  REMARK    GeneRIF: Results demonstrate that human Wig-1 can bind different
            types of double-stranded RNAs (dsRNAs), including dsRNAs resembling
            small interfering RNAs and microRNAs, and indicate that dsRNA
            binding has a role in Wig-1-mediated regulation of cell growth.
REFERENCE   7  (residues 1 to 288)
  AUTHORS   Higashi Y, Asanuma M, Miyazaki I, Haque ME, Fujita N, Tanaka K and
            Ogawa N.
  TITLE     The p53-activated gene, PAG608, requires a zinc finger domain for
            nuclear localization and oxidative stress-induced apoptosis
  JOURNAL   J Biol Chem 277 (44), 42224-42232 (2002)
   PUBMED   12196512
REFERENCE   8  (residues 1 to 288)
  AUTHORS   Varmeh-Ziaie S, Ichimura K, Yang F, Rabbits P and Collins VP.
  TITLE     Cloning and chromosomal localization of human WIG-1/PAG608 and
            demonstration of amplification with increased expression in primary
            squamous cell carcinoma of the lung
  JOURNAL   Cancer Lett 174 (2), 179-187 (2001)
   PUBMED   11689294
REFERENCE   9  (residues 1 to 288)
  AUTHORS   Hellborg F, Qian W, Mendez-Vidal C, Asker C, Kost-Alimova M,
            Wilhelm M, Imreh S and Wiman KG.
  TITLE     Human wig-1, a p53 target gene that encodes a growth inhibitory
            zinc finger protein
  JOURNAL   Oncogene 20 (39), 5466-5474 (2001)
   PUBMED   11571644
REFERENCE   10 (residues 1 to 288)
  AUTHORS   Varmeh-Ziaie S, Okan I, Wang Y, Magnusson KP, Warthoe P, Strauss M
            and Wiman KG.
  TITLE     Wig-1, a new p53-induced gene encoding a zinc finger protein
  JOURNAL   Oncogene 15 (22), 2699-2704 (1997)
   PUBMED   9400996
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC117456.6.
            
            Summary: This gene encodes a protein containing three zinc finger
            domains and a nuclear localization signal. The mRNA and the protein
            of this gene are upregulated by wildtype p53 and overexpression of
            this gene inhibits tumor cell growth, suggesting that this gene may
            have a role in the p53-dependent growth regulatory pathway.
            Alternative splicing of this gene results in two transcript
            variants encoding two isoforms differing in only one amino acid.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.201159.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..288
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.32"
     Protein         1..288
                     /product="zinc finger matrin-type protein 3 isoform 2"
                     /note="p53 target zinc finger protein; zinc finger protein
                     WIG1; WIG-1/PAG608 protein; p53-activated gene 608
                     protein"
                     /calculated_mol_wt=31857
     Region          1..42
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HA38.1)"
     Region          67..101
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     Region          72..94
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Site            order(79..81,83..84,88,93,154,157..161,163..164)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275371"
     Region          144..177
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     Region          149..171
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Region          180..201
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HA38.1)"
     Region          242..276
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     CDS             1..288
                     /gene="ZMAT3"
                     /gene_synonym="PAG608; WIG-1; WIG1"
                     /coded_by="NM_001375828.1:273..1139"
                     /note="isoform 2 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS46962.1"
                     /db_xref="GeneID:64393"
                     /db_xref="HGNC:HGNC:29983"
                     /db_xref="MIM:606452"
ORIGIN      
        1 millqhavlp ppkqpspspp msvatrstgt lqlppqkpfg qeaslplage eelskggeqd
       61 caleelckpl ycklcnvtln saqqaqahyq gknhgkklrn yyaanscppp armsnvvepa
      121 atpvvpvppq mgsfkpggrv ilatendyck lcdasfsspa vaqahyqgkn hakrlrlaea
      181 qsnsfsesse lgqrrarkeg nefkmmpnrr nmytvqnnsg pyfnprsrqr iprdlamcvt
      241 psgqfycsmc nvgageemef rqhleskqhk skvseqryrn emenlgyv
//
LOCUS       NP_001358590             295 aa            linear   PRI 28-DEC-2022
DEFINITION  tRNA (adenine(37)-N6)-methyltransferase isoform 2 [Homo sapiens].
ACCESSION   NP_001358590 XP_005252106
VERSION     NP_001358590.1
DBSOURCE    REFSEQ: accession NM_001371661.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 295)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 295)
  AUTHORS   Kimura S, Miyauchi K, Ikeuchi Y, Thiaville PC, Crecy-Lagard Vd and
            Suzuki T.
  TITLE     Discovery of the beta-barrel-type RNA methyltransferase responsible
            for N6-methylation of N6-threonylcarbamoyladenosine in tRNAs
  JOURNAL   Nucleic Acids Res 42 (14), 9350-9365 (2014)
   PUBMED   25063302
REFERENCE   3  (residues 1 to 295)
  AUTHORS   Eriksson N, Tung JY, Kiefer AK, Hinds DA, Francke U, Mountain JL
            and Do CB.
  TITLE     Novel associations for hypothyroidism include known autoimmune risk
            loci
  JOURNAL   PLoS One 7 (4), e34442 (2012)
   PUBMED   22493691
REFERENCE   4  (residues 1 to 295)
  AUTHORS   Letra A, Menezes R, Govil M, Fonseca RF, McHenry T, Granjeiro JM,
            Castilla EE, Orioli IM, Marazita ML and Vieira AR.
  TITLE     Follow-up association studies of chromosome region 9q and
            nonsyndromic cleft lip/palate
  JOURNAL   Am J Med Genet A 152A (7), 1701-1710 (2010)
   PUBMED   20583170
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 295)
  AUTHORS   Takahashi M, Saenko VA, Rogounovitch TI, Kawaguchi T, Drozd VM,
            Takigawa-Imamura H, Akulevich NM, Ratanajaraya C, Mitsutake N,
            Takamura N, Danilova LI, Lushchik ML, Demidchik YE, Heath S, Yamada
            R, Lathrop M, Matsuda F and Yamashita S.
  TITLE     The FOXE1 locus is a major genetic determinant for
            radiation-related thyroid carcinoma in Chernobyl
  JOURNAL   Hum Mol Genet 19 (12), 2516-2523 (2010)
   PUBMED   20350937
REFERENCE   6  (residues 1 to 295)
  AUTHORS   Moreno LM, Mansilla MA, Bullard SA, Cooper ME, Busch TD, Machida J,
            Johnson MK, Brauer D, Krahn K, Daack-Hirsch S, L'heureux J,
            Valencia-Ramirez C, Rivera D, Lopez AM, Moreno MA, Hing A, Lammer
            EJ, Jones M, Christensen K, Lie RT, Jugessur A, Wilcox AJ, Chines
            P, Pugh E, Doheny K, Arcos-Burgos M, Marazita ML, Murray JC and
            Lidral AC.
  TITLE     FOXE1 association with both isolated cleft lip with or without
            cleft palate, and isolated cleft palate
  JOURNAL   Hum Mol Genet 18 (24), 4879-4896 (2009)
   PUBMED   19779022
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 295)
  AUTHORS   Liu LX, Margottin F, Le Gall S, Schwartz O, Selig L, Benarous R and
            Benichou S.
  TITLE     Binding of HIV-1 Nef to a novel thioesterase enzyme correlates with
            Nef-mediated CD4 down-regulation
  JOURNAL   J Biol Chem 272 (21), 13779-13785 (1997)
   PUBMED   9153233
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL499604.9.
            On Jul 19, 2019 this sequence version replaced XP_005252106.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.2636178.1,
                                           DRR138512.280772.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..295
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.33"
     Protein         1..295
                     /product="tRNA (adenine(37)-N6)-methyltransferase isoform
                     2"
                     /note="Nef associated protein 1; Nef (lentivirus
                     myristoylated factor) associated protein 1; thioesterase
                     NAP1; nef-associated protein 1; tRNA
                     (adenine(37)-N6)-methyltransferase"
                     /calculated_mol_wt=32513
     Region          <1..18
                     /region_name="UPF0066"
                     /note="Escherichia coli YaeB and related proteins;
                     cl00749"
                     /db_xref="CDD:445076"
     Region          189..257
                     /region_name="TrmO_C"
                     /note="TrmO C-terminal domain; pfam18389"
                     /db_xref="CDD:436459"
     CDS             1..295
                     /gene="TRMO"
                     /gene_synonym="C9orf156; HSPC219; NAP1"
                     /coded_by="NM_001371661.1:271..1158"
                     /note="isoform 2 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS83387.1"
                     /db_xref="GeneID:51531"
                     /db_xref="HGNC:HGNC:30967"
ORIGIN      
        1 mihgtpvldi kpyiaeydsp qnvmepladf nlqnnqhtpn tvsqsdsktd scdqrqlsgc
       61 depqphhstk rkpkcpedrt seenylthsd tariqqafpm hreiavdfgl esrrdqsssv
      121 aeeqigpycp eksfsekgtd kklervegaa vlqgsraetq pmaphcpagr adgaprsvvp
      181 awvteapvat levrftphae mdlgqlssqd vgqasfkyfq saeeakraie avlsadprsv
      241 yrrklcqdrl fyftvdiahv tcwfgdgfae vlrikpasep vhmtgpvgsl vslgs
//
LOCUS       NP_922946                 83 aa            linear   PRI 28-DEC-2022
DEFINITION  normal mucosa of esophagus-specific gene 1 protein [Homo sapiens].
ACCESSION   NP_922946
VERSION     NP_922946.1
DBSOURCE    REFSEQ: accession NM_197955.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 83)
  AUTHORS   Clayton SA, Daley KK, MacDonald L, Fernandez-Vizarra E, Bottegoni
            G, O'Neil JD, Major T, Griffin D, Zhuang Q, Adewoye AB, Woolcock K,
            Jones SW, Goodyear C, Elmesmari A, Filer A, Tennant DA, Alivernini
            S, Buckley CD, Pitceathly RDS, Kurowska-Stolarska M and Clark AR.
  TITLE     Inflammation causes remodeling of mitochondrial cytochrome c
            oxidase mediated by the bifunctional gene C15orf48
  JOURNAL   Sci Adv 7 (50), eabl5182 (2021)
   PUBMED   34878835
REFERENCE   2  (residues 1 to 83)
  AUTHORS   Lee CQE, Kerouanton B, Chothani S, Zhang S, Chen Y, Mantri CK, Hock
            DH, Lim R, Nadkarni R, Huynh VT, Lim D, Chew WL, Zhong FL, Stroud
            DA, Schafer S, Tergaonkar V, St John AL, Rackham OJL and Ho L.
  TITLE     Coding and non-coding roles of MOCCI (C15ORF48) coordinate to
            regulate host inflammation and immunity
  JOURNAL   Nat Commun 12 (1), 2130 (2021)
   PUBMED   33837217
  REMARK    GeneRIF: Coding and non-coding roles of MOCCI (C15ORF48) coordinate
            to regulate host inflammation and immunity.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 83)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 83)
  AUTHORS   Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET,
            Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK,
            Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS,
            Rensvold JW, Taylor RW, Prokisch H, Kim JP, Coon JJ and Pagliarini
            DJ.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   5  (residues 1 to 83)
  AUTHORS   Zimmer A, Bouley J, Le Mignon M, Pliquet E, Horiot S, Turfkruyer M,
            Baron-Bodo V, Horak F, Nony E, Louise A, Moussu H, Mascarell L and
            Moingeon P.
  TITLE     A regulatory dendritic cell signature correlates with the clinical
            efficacy of allergen-specific sublingual immunotherapy
  JOURNAL   J Allergy Clin Immunol 129 (4), 1020-1030 (2012)
   PUBMED   22464673
REFERENCE   6  (residues 1 to 83)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 83)
  AUTHORS   Arai M, Imazeki F, Sakai Y, Mikata R, Tada M, Seki N, Shimada H,
            Ochiai T and Yokosuka O.
  TITLE     Analysis of the methylation status of genes up-regulated by the
            demethylating agent, 5-aza-2'-deoxycytidine, in esophageal squamous
            cell carcinoma
  JOURNAL   Oncol Rep 20 (2), 405-412 (2008)
   PUBMED   18636205
REFERENCE   8  (residues 1 to 83)
  AUTHORS   Sova P, Feng Q, Geiss G, Wood T, Strauss R, Rudolf V, Lieber A and
            Kiviat N.
  TITLE     Discovery of novel methylation biomarkers in cervical carcinoma by
            global demethylation and microarray analysis
  JOURNAL   Cancer Epidemiol Biomarkers Prev 15 (1), 114-123 (2006)
   PUBMED   16434596
REFERENCE   9  (residues 1 to 83)
  AUTHORS   Zhou J, Wang H, Lu A, Hu G, Luo A, Ding F, Zhang J, Wang X, Wu M
            and Liu Z.
  TITLE     A novel gene, NMES1, downregulated in human esophageal squamous
            cell carcinoma
  JOURNAL   Int J Cancer 101 (4), 311-316 (2002)
   PUBMED   12209954
  REMARK    GeneRIF: The negative correlation of NMES1 expression with
            esophageal oncogenesis suggests its suppressive role in
            tumorigenesis of the esophagus, while the precise function of NMES1
            still needs further investigation.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM312626.1, BC021173.2 and
            AF228422.1.
            
            Summary: This gene was first identified in a study of human
            esophageal squamous cell carcinoma tissues. Levels of both the
            message and protein are reduced in carcinoma samples. In adult
            human tissues, this gene is expressed in the the esophagus,
            stomach, small intestine, colon and placenta. Alternatively spliced
            transcript variants that encode the same protein have been
            identified. [provided by RefSeq, Jun 2012].
            
            Transcript Variant: This variant (1) encodes the functional
            protein. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BF681514.1, HY043948.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396650.7/ ENSP00000379887.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..83
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     Protein         1..83
                     /product="normal mucosa of esophagus-specific gene 1
                     protein"
                     /note="normal mucosa of esophagus specific 1; MIR147B
                     host; cytochrome c oxidase subunit FA4 like 3; modulator
                     of cytochrome C oxidase during inflammation; mitochondrial
                     stress response antiviral"
                     /calculated_mol_wt=9486
     Region          9..76
                     /region_name="B12D"
                     /note="NADH-ubiquinone reductase complex 1 MLRQ subunit;
                     pfam06522"
                     /db_xref="CDD:428987"
     CDS             1..83
                     /gene="C15orf48"
                     /gene_synonym="COXFA4L3; FOAP-11; MIR147BHG; MISTRAV;
                     MOCCI; NMES1"
                     /coded_by="NM_197955.3:74..325"
                     /db_xref="CCDS:CCDS10124.1"
                     /db_xref="GeneID:84419"
                     /db_xref="HGNC:HGNC:29898"
                     /db_xref="MIM:608409"
ORIGIN      
        1 msffqllmkr keliplvvfm tvaaggassf avyslwktdv ildrkknpep wetvdptvpq
       61 klitinqqwk pieelqnvqr vtk
//
LOCUS       NP_001337517             230 aa            linear   PRI 28-DEC-2022
DEFINITION  tRNA (guanine(10)-N2)-methyltransferase homolog isoform e [Homo
            sapiens].
ACCESSION   NP_001337517
VERSION     NP_001337517.1
DBSOURCE    REFSEQ: accession NM_001350588.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 230)
  AUTHORS   Brumele B, Mutso M, Telanne L, Ounap K, Spunde K, Abroi A and Kurg
            R.
  TITLE     Human TRMT112-Methyltransferase Network Consists of Seven Partners
            Interacting with a Common Co-Factor
  JOURNAL   Int J Mol Sci 22 (24), 13593 (2021)
   PUBMED   34948388
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 230)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 230)
  AUTHORS   Kohli M, Riska SM, Mahoney DW, Chai HS, Hillman DW, Rider DN,
            Costello BA, Qin R, Lamba J, Sahasrabudhe DM and Cerhan JR.
  TITLE     Germline predictors of androgen deprivation therapy response in
            advanced prostate cancer
  JOURNAL   Mayo Clin Proc 87 (3), 240-246 (2012)
   PUBMED   22386179
  REMARK    GeneRIF: SNPs associated with androgen deprivation failure in
            advanced prostate cancer
REFERENCE   4  (residues 1 to 230)
  AUTHORS   Elks CE, Perry JR, Sulem P, Chasman DI, Franceschini N, He C,
            Lunetta KL, Visser JA, Byrne EM, Cousminer DL, Gudbjartsson DF,
            Esko T, Feenstra B, Hottenga JJ, Koller DL, Kutalik Z, Lin P,
            Mangino M, Marongiu M, McArdle PF, Smith AV, Stolk L, van Wingerden
            SH, Zhao JH, Albrecht E, Corre T, Ingelsson E, Hayward C, Magnusson
            PK, Smith EN, Ulivi S, Warrington NM, Zgaga L, Alavere H, Amin N,
            Aspelund T, Bandinelli S, Barroso I, Berenson GS, Bergmann S,
            Blackburn H, Boerwinkle E, Buring JE, Busonero F, Campbell H,
            Chanock SJ, Chen W, Cornelis MC, Couper D, Coviello AD, d'Adamo P,
            de Faire U, de Geus EJ, Deloukas P, Doring A, Smith GD, Easton DF,
            Eiriksdottir G, Emilsson V, Eriksson J, Ferrucci L, Folsom AR,
            Foroud T, Garcia M, Gasparini P, Geller F, Gieger C, Gudnason V,
            Hall P, Hankinson SE, Ferreli L, Heath AC, Hernandez DG, Hofman A,
            Hu FB, Illig T, Jarvelin MR, Johnson AD, Karasik D, Khaw KT, Kiel
            DP, Kilpelainen TO, Kolcic I, Kraft P, Launer LJ, Laven JS, Li S,
            Liu J, Levy D, Martin NG, McArdle WL, Melbye M, Mooser V, Murray
            JC, Murray SS, Nalls MA, Navarro P, Nelis M, Ness AR, Northstone K,
            Oostra BA, Peacock M, Palmer LJ, Palotie A, Pare G, Parker AN,
            Pedersen NL, Peltonen L, Pennell CE, Pharoah P, Polasek O, Plump
            AS, Pouta A, Porcu E, Rafnar T, Rice JP, Ring SM, Rivadeneira F,
            Rudan I, Sala C, Salomaa V, Sanna S, Schlessinger D, Schork NJ,
            Scuteri A, Segre AV, Shuldiner AR, Soranzo N, Sovio U, Srinivasan
            SR, Strachan DP, Tammesoo ML, Tikkanen E, Toniolo D, Tsui K,
            Tryggvadottir L, Tyrer J, Uda M, van Dam RM, van Meurs JB,
            Vollenweider P, Waeber G, Wareham NJ, Waterworth DM, Weedon MN,
            Wichmann HE, Willemsen G, Wilson JF, Wright AF, Young L, Zhai G,
            Zhuang WV, Bierut LJ, Boomsma DI, Boyd HA, Crisponi L, Demerath EW,
            van Duijn CM, Econs MJ, Harris TB, Hunter DJ, Loos RJ, Metspalu A,
            Montgomery GW, Ridker PM, Spector TD, Streeten EA, Stefansson K,
            Thorsteinsdottir U, Uitterlinden AG, Widen E, Murabito JM, Ong KK
            and Murray A.
  CONSRTM   GIANT Consortium
  TITLE     Thirty new loci for age at menarche identified by a meta-analysis
            of genome-wide association studies
  JOURNAL   Nat Genet 42 (12), 1077-1085 (2010)
   PUBMED   21102462
REFERENCE   5  (residues 1 to 230)
  AUTHORS   Purushothaman SK, Bujnicki JM, Grosjean H and Lapeyre B.
  TITLE     Trm11p and Trm112p are both required for the formation of
            2-methylguanosine at position 10 in yeast tRNA
  JOURNAL   Mol Cell Biol 25 (11), 4359-4370 (2005)
   PUBMED   15899842
REFERENCE   6  (residues 1 to 230)
  AUTHORS   Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM,
            Polakiewicz RD and Comb MJ.
  TITLE     Immunoaffinity profiling of tyrosine phosphorylation in cancer
            cells
  JOURNAL   Nat Biotechnol 23 (1), 94-101 (2005)
   PUBMED   15592455
REFERENCE   7  (residues 1 to 230)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD,
            Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker
            DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP,
            Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY,
            Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman
            LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M,
            Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD,
            Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ,
            Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S,
            Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL,
            Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL,
            Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson
            CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK,
            Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR,
            Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M,
            Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A,
            Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K,
            Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore
            B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM,
            Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith
            M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G,
            Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A,
            Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL,
            Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt
            JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard
            T, Sulston JE, Dunham I, Rogers J and Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL035689.26.
            
            Transcript Variant: This variant (10), as well as variants 8, 9,
            and 11-19, encodes isoform e.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.4147304.1,
                                           SRR14038195.1283579.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..230
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.32"
     Protein         1..230
                     /product="tRNA (guanine(10)-N2)-methyltransferase homolog
                     isoform e"
                     /EC_number="2.1.1.-"
                     /note="tRNA guanosine-2'-O-methyltransferase TRM11
                     homolog; tRNA (guanine(10)-N2)-methyltransferase homolog"
                     /calculated_mol_wt=26782
     Region          <35..183
                     /region_name="Trm11"
                     /note="tRNA G10 N-methylase Trm11 [Translation, ribosomal
                     structure and biogenesis]; COG1041"
                     /db_xref="CDD:223971"
     CDS             1..230
                     /gene="TRMT11"
                     /gene_synonym="C6orf75; MDS024; TRM11; TRMT11-1"
                     /coded_by="NM_001350588.2:1190..1882"
                     /note="isoform e is encoded by transcript variant 10"
                     /db_xref="GeneID:60487"
                     /db_xref="HGNC:HGNC:21080"
ORIGIN      
        1 mtenkntlfn tfslpfsfps gkatrknqkw rgpdeniran lrqyglekyy ldvlvsdask
       61 pswrkgtyfd aiitdppygi restrrtgsq keipkgiekw ekcpeshvpv slsyhlsdmf
      121 ldllnfaaet lvlggrlvyw lpvytpeyte emvpwhpcle lvsnceqkls shtsrrlitm
      181 ekvkkfenrd qyshllsdhf lpyqghnsfr ekyfsgvtkr iakeekstqe
//
LOCUS       NP_001353224             570 aa            linear   PRI 29-DEC-2022
DEFINITION  breast carcinoma-amplified sequence 1 isoform 3 [Homo sapiens].
ACCESSION   NP_001353224 XP_005260650
VERSION     NP_001353224.1
DBSOURCE    REFSEQ: accession NM_001366295.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 570)
  AUTHORS   Fard MK, van der Meer F, Sanchez P, Cantuti-Castelvetri L, Mandad
            S, Jakel S, Fornasiero EF, Schmitt S, Ehrlich M, Starost L,
            Kuhlmann T, Sergiou C, Schultz V, Wrzos C, Bruck W, Urlaub H, Dimou
            L, Stadelmann C and Simons M.
  TITLE     BCAS1 expression defines a population of early myelinating
            oligodendrocytes in multiple sclerosis lesions
  JOURNAL   Sci Transl Med 9 (419) (2017)
   PUBMED   29212715
REFERENCE   2  (residues 1 to 570)
  AUTHORS   Ishimoto T, Ninomiya K, Inoue R, Koike M, Uchiyama Y and Mori H.
  TITLE     Mice lacking BCAS1, a novel myelin-associated protein, display
            hypomyelination, schizophrenia-like abnormal behaviors, and
            upregulation of inflammatory genes in the brain
  JOURNAL   Glia 65 (5), 727-739 (2017)
   PUBMED   28230289
REFERENCE   3  (residues 1 to 570)
  AUTHORS   Burmester JK, Suarez BK, Lin JH, Jin CH, Miller RD, Zhang KQ,
            Salzman SA, Reding DJ and Catalona WJ.
  TITLE     Analysis of candidate genes for prostate cancer
  JOURNAL   Hum Hered 57 (4), 172-178 (2004)
   PUBMED   15583422
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 570)
  AUTHORS   Beardsley DI, Kowbel D, Lataxes TA, Mannino JM, Xin H, Kim WJ,
            Collins C and Brown KD.
  TITLE     Characterization of the novel amplified in breast cancer-1 (NABC1)
            gene product
  JOURNAL   Exp Cell Res 290 (2), 402-413 (2003)
   PUBMED   14567997
REFERENCE   5  (residues 1 to 570)
  AUTHORS   Lo KW, Naisbitt S, Fan JS, Sheng M and Zhang M.
  TITLE     The 8-kDa dynein light chain binds to its targets via a conserved
            (K/R)XTQT motif
  JOURNAL   J Biol Chem 276 (17), 14059-14066 (2001)
   PUBMED   11148209
REFERENCE   6  (residues 1 to 570)
  AUTHORS   Correa RG, de Carvalho AF, Pinheiro NA, Simpson AJ and de Souza SJ.
  TITLE     NABC1 (BCAS1): alternative splicing and downregulation in
            colorectal tumors
  JOURNAL   Genomics 65 (3), 299-302 (2000)
   PUBMED   10857754
REFERENCE   7  (residues 1 to 570)
  AUTHORS   Collins C, Rommens JM, Kowbel D, Godfrey T, Tanner M, Hwang SI,
            Polikoff D, Nonet G, Cochran J, Myambo K, Jay KE, Froula J,
            Cloutier T, Kuo WL, Yaswen P, Dairkee S, Giovanola J, Hutchinson
            GB, Isola J, Kallioniemi OP, Palazzolo M, Martin C, Ericsson C,
            Pinkel D, Albertson D, Li WB and Gray JW.
  TITLE     Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2
            and overexpressed in breast carcinoma
  JOURNAL   Proc Natl Acad Sci U S A 95 (15), 8703-8708 (1998)
   PUBMED   9671742
REFERENCE   8  (residues 1 to 570)
  AUTHORS   Tanner MM, Tirkkonen M, Kallioniemi A, Isola J, Kuukasjarvi T,
            Collins C, Kowbel D, Guan XY, Trent J, Gray JW, Meltzer P and
            Kallioniemi OP.
  TITLE     Independent amplification and frequent co-amplification of three
            nonsyntenic regions on the long arm of chromosome 20 in human
            breast cancer
  JOURNAL   Cancer Res 56 (15), 3441-3445 (1996)
   PUBMED   8758909
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354801.5, AC004501.1 and
            AC005220.1.
            On Sep 28, 2018 this sequence version replaced XP_005260650.1.
            
            Summary: This gene resides in a region at 20q13 which is amplified
            in a variety of tumor types and associated with more aggressive
            tumor phenotypes. Among the genes identified from this region, it
            was found to be highly expressed in three amplified breast cancer
            cell lines and in one breast tumor without amplification at
            20q13.2. However, this gene is not in the common region of maximal
            amplification and its expression was not detected in the breast
            cancer cell line MCF7, in which this region is highly amplified.
            Although not consistently expressed, this gene is a candidate
            oncogene. [provided by RefSeq, Apr 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.1203845.1,
                                           SRR14038196.265616.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267766 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..570
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.2"
     Protein         1..570
                     /product="breast carcinoma-amplified sequence 1 isoform 3"
                     /note="novel amplified in breast cancer 1; amplified and
                     overexpressed in breast cancer; protein having mRNA
                     enriched in synaptosomes 2; breast carcinoma amplified
                     sequence 1"
                     /calculated_mol_wt=60135
     CDS             1..570
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /coded_by="NM_001366295.2:168..1880"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="GeneID:8537"
                     /db_xref="HGNC:HGNC:974"
                     /db_xref="MIM:602968"
ORIGIN      
        1 mgnqmsvpqr vedqenepea etyqdnasal ngvpvvvsth tvqhleevdl gisvktdnva
       61 tsspetteis avadangknl gkeakpeapa aksrfflmls rpvpgrtgdq aadsslgsvk
      121 ldvssnkapa nkdpseswtl pvaagpgqdt dktpghapaq dkvlsaardp tllppetgga
      181 ggeapskpkd ssffdkffkl dkgqekvpgd sqqeakraeh qdkvdevpgl sgqsddvpag
      241 kdivdgkeke gqelgtadcs vpgdpeglet akddsqaaai aennnsimsf fktlvspnka
      301 etkkdpedtg aekspttsad lksdkanfts qetqgagkns kgcnpsghtq svttpepake
      361 gtkeksgpts lplgklfwkk vvcespveii kskevesalq tvdlnegdaa pepteaklkr
      421 eeskprtslm aflrqmsvkg dggithseei ngkdsscqts dstektitpp epeptgapqk
      481 gkegsskdkk saaemnkqks nkqeakepaq cteqatvdtn slqngdklqk rpekrqqslg
      541 gffkglgpkr mldaqvqtdp vsigpvgksk
//
LOCUS       NP_001372787            2269 aa            linear   PRI 29-DEC-2022
DEFINITION  protein dopey-1 isoform e [Homo sapiens].
ACCESSION   NP_001372787
VERSION     NP_001372787.1
DBSOURCE    REFSEQ: accession NM_001385858.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2269)
  AUTHORS   Lend AK, Kazantseva A, Kivil A, Valvere V and Palm K.
  TITLE     Diagnostic significance of alternative splice variants of REST and
            DOPEY1 in the peripheral blood of patients with breast cancer
  JOURNAL   Tumour Biol 36 (4), 2473-2480 (2015)
   PUBMED   25424701
  REMARK    GeneRIF: Assessment of REST-N50 and DOPEY1v2 may prove useful in
            diagnostic blood tests of breast cancer. REST-N50 shows a high
            potential as a blood biomarker for evaluating the effectiveness of
            therapy in the neoadjuvant setting.
REFERENCE   2  (residues 1 to 2269)
  AUTHORS   Gillingham AK, Whyte JR, Panic B and Munro S.
  TITLE     Mon2, a relative of large Arf exchange factors, recruits Dop1 to
            the Golgi apparatus
  JOURNAL   J Biol Chem 281 (4), 2273-2280 (2006)
   PUBMED   16301316
REFERENCE   3  (residues 1 to 2269)
  AUTHORS   Pascon RC and Miller BL.
  TITLE     Morphogenesis in Aspergillus nidulans requires Dopey (DopA), a
            member of a novel family of leucine zipper-like proteins conserved
            from yeast to humans
  JOURNAL   Mol Microbiol 36 (6), 1250-1264 (2000)
   PUBMED   10931277
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL139333.10 and AL121716.16.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2148093,
                              SAMEA2155371 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2269
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.1"
     Protein         1..2269
                     /product="protein dopey-1 isoform e"
                     /note="homolog of yeast DOP1; protein dopey-1; dopey
                     family member 1"
                     /calculated_mol_wt=255457
     Region          <1..143
                     /region_name="Dopey_N"
                     /note="Dopey, N-terminal; cl04407"
                     /db_xref="CDD:446380"
     Region          <1895..2131
                     /region_name="Dopey_N"
                     /note="Dopey, N-terminal; cl04407"
                     /db_xref="CDD:446380"
     CDS             1..2269
                     /gene="DOP1A"
                     /gene_synonym="dJ202D23.2; DOP1; DOPEY1; KIAA1117"
                     /coded_by="NM_001385858.1:144..6953"
                     /note="isoform e is encoded by transcript variant 5"
                     /db_xref="GeneID:23033"
                     /db_xref="HGNC:HGNC:21194"
                     /db_xref="MIM:616823"
ORIGIN      
        1 msvkptllsl yeiyylplgk tlkpglqgll tgilpgleeg seyyertnml lekvaaavdq
       61 safysalwgs lltspavrlp gityvlahln rklsmedqly iigsdielma trpdmirils
      121 aalhvvlrrd mslnrrlyaw llgfdnngai igprstrhsn peehatyyft tfskellvqa
      181 mvgilqvngf geentlmqdl kpfrilisll dkpelgpvil edvlievfrt lysqckaeld
      241 lqteppfskd haqlssklre nkktaelikt anllfnsfep yymwdyvarw feeccrrtlh
      301 vrlqigpgds ndsselqltn fcllvdflld ivsletyiei qtehlpqlll rmisaltshl
      361 qtlhlseltd slrlcskils kvqppllsas tggvlqfpsg qnnsvkewed kkvssvshen
      421 ptevfedgen ppssrssesg ftefiqyqad rtddidrels egqgaaaipi gstsseteta
      481 stvgseetii qtpsvvtqgt atrsrktaqk tamqccleyv qqfltrlinl yiiqnnsfsq
      541 slatehqgdl greqgetskw drnsqgdvke kniskqktsk eylsaflaac qlflecssfp
      601 vyiaegnhts elrsekletd cehvqppqwl qtlmnacsqa sdfsvqsvai slvmdlvglt
      661 qsvamvtgen insvepaqpl spnqgrvavv irppltqgnl ryiaekteff khvaltlwdq
      721 lgdgtpqhhq ksvelfyqlh nlvpsssice dvisqqlthk dkkirmeaha kfavlwhltr
      781 dlhinksssf vrsfdrslfi mldslnsldg stssvgqawl nqvlqrhdia rvleplllll
      841 lhpktqrvsv qrvqaerywn kspcypgees dkhfmqnfac snvsqvqlit skgngekplt
      901 mdeienfslt vnplsdrlsl lstssetipm vvsdfdlpdq qieilqssds gcsqssagdn
      961 lsyevdpetv naqedsqmpk esspdddvqq vvfdlickvv sglevesasv tsqleieamp
     1021 pkcsdidpde etikieddsi qqsqnallsn essqflsvsa egghecvang isrnssspci
     1081 sgtthtlhds svasietksr qrshssiqfs fkeklsekvs eketivkesg kqpgakpkvk
     1141 larkkdddkk kssneklkqt svffsdgldl enwyscgegd iseiesdmgs pgsrkspnfn
     1201 ihplyqhvll ylqlydssrt lyafsaikai lktnpiafvn aisttsvnna ytpqlsllqn
     1261 llarhrisvm gkdfyshipv dsnhnfrssm yieilislcl yymrshypth vkvtaqdlig
     1321 nrnmqmmsie iltllftela kviessakgf psfisdmlsk ckvqkvilhc llssifsaqk
     1381 whsekmagkn lvaveegfse dslinfsede fdngstlqsq llkvlqrliv lehrvmtipe
     1441 enetgfdfvv sdlehisphq pmtslqylha qpitcqgmfl caviralhqh cackmhpqwi
     1501 glitstlpym gkvlqrvvvs vtlqlcrnld nliqqykyet glsdsrplwm asiippdmil
     1561 tllegitaii hyclldpttq yhqllvsvdq khlfearsgi lsilhmimss vtllwsilhq
     1621 adssekmtia asaslttinl gatknlrqqi lellgpismn hgvhfmaaia fvwnerrqnk
     1681 tttrtkvipa aseeqlllve lvrsisvmra etviqtvkev lkqppaiakd kkhlslevcm
     1741 lqffyayiqr vlnefimknp slenkkdqrd lqdvthkivd aigaiagssl eqttwlrrnl
     1801 evkpspkimv dgtnlesdve dmlspameta nitpsvysvh altllsevla hlldmvfysd
     1861 ekervipllv nimhyvvpyl rnhsahnaps yracvqllss lsgyqytrra wkkeafdlfm
     1921 dpsffqmdas cvnhwraimd nlmthdkttf rdlmtrvava qssslnlfan rdveleqram
     1981 llkrlafaif sseidqyqky lpdiqerlve slrlpqvptl hsqvflffrv lllrmspqhl
     2041 tslwptmite lvqvfllmeq eltadedisr tsgpsvagle ttytggngfs tsynsqrwln
     2101 lylsackfld lalalpsenl pqfqmyrwaf ipeasddsgl evrrqgihqr efkpyvvrla
     2161 kllrkrakkn peednsgrtl gwepghlllt ictvrsmeql lpffnvlsqv fnskvtsrcg
     2221 ghsgspilys nafpnkdmkl enhkpcsska rqkieemvek dflegmikt
//
LOCUS       NP_001305698             156 aa            linear   PRI 29-DEC-2022
DEFINITION  39S ribosomal protein L14, mitochondrial isoform b [Homo sapiens].
ACCESSION   NP_001305698 XP_011513116
VERSION     NP_001305698.1
DBSOURCE    REFSEQ: accession NM_001318769.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 156)
  AUTHORS   Brown A, Rathore S, Kimanius D, Aibara S, Bai XC, Rorbach J, Amunts
            A and Ramakrishnan V.
  TITLE     Structures of the human mitochondrial ribosome in native states of
            assembly
  JOURNAL   Nat Struct Mol Biol 24 (10), 866-869 (2017)
   PUBMED   28892042
REFERENCE   2  (residues 1 to 156)
  AUTHORS   Greber BJ and Ban N.
  TITLE     Structure and Function of the Mitochondrial Ribosome
  JOURNAL   Annu Rev Biochem 85, 103-132 (2016)
   PUBMED   27023846
  REMARK    Review article
REFERENCE   3  (residues 1 to 156)
  AUTHORS   Brown A, Amunts A, Bai XC, Sugimoto Y, Edwards PC, Murshudov G,
            Scheres SHW and Ramakrishnan V.
  TITLE     Structure of the large ribosomal subunit from human mitochondria
  JOURNAL   Science 346 (6210), 718-722 (2014)
   PUBMED   25278503
REFERENCE   4  (residues 1 to 156)
  AUTHORS   Fung S, Nishimura T, Sasarman F and Shoubridge EA.
  TITLE     The conserved interaction of C7orf30 with MRPL14 promotes
            biogenesis of the mitochondrial large ribosomal subunit and
            mitochondrial translation
  JOURNAL   Mol Biol Cell 24 (3), 184-193 (2013)
   PUBMED   23171548
  REMARK    GeneRIF: C7orf30 promotes incorporation of MRPL14 into the
            mitochondrial large ribosomal subunit.
REFERENCE   5  (residues 1 to 156)
  AUTHORS   Hauser R, Pech M, Kijek J, Yamamoto H, Titz B, Naeve F,
            Tovchigrechko A, Yamamoto K, Szaflarski W, Takeuchi N, Stellberger
            T, Diefenbacher ME, Nierhaus KH and Uetz P.
  TITLE     RsfA (YbeB) proteins are conserved ribosomal silencing factors
  JOURNAL   PLoS Genet 8 (7), e1002815 (2012)
   PUBMED   22829778
REFERENCE   6  (residues 1 to 156)
  AUTHORS   Zhang Z and Gerstein M.
  TITLE     Identification and characterization of over 100 mitochondrial
            ribosomal protein pseudogenes in the human genome
  JOURNAL   Genomics 81 (5), 468-480 (2003)
   PUBMED   12706105
REFERENCE   7  (residues 1 to 156)
  AUTHORS   Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S,
            Watanabe K and Tanaka T.
  TITLE     The human mitochondrial ribosomal protein genes: mapping of 54
            genes to the chromosomes and implications for human disorders
  JOURNAL   Genomics 77 (1-2), 65-70 (2001)
   PUBMED   11543634
REFERENCE   8  (residues 1 to 156)
  AUTHORS   Goldschmidt-Reisin S, Kitakawa M, Herfurth E, Wittmann-Liebold B,
            Grohmann L and Graack HR.
  TITLE     Mammalian mitochondrial ribosomal proteins. N-terminal amino acid
            sequencing, characterization, and identification of corresponding
            gene sequences
  JOURNAL   J Biol Chem 273 (52), 34828-34836 (1998)
   PUBMED   9857009
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL365192.22, CF541260.1,
            BM013002.1, AA887574.1 and AL109615.42.
            On Jan 14, 2016 this sequence version replaced XP_011513116.1.
            
            Summary: This nuclear gene encodes a protein component of the 39S
            subunit of the mitochondrial ribosome. A pseudogene of this gene is
            found on chromosome 17. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (4) differs in the 5' UTR and
            initiates translation at an alternate start codon compared to
            variant 1. The encoded isoform (b) has a longer N-terminus than
            isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CF541260.1, SRR14478891.627817.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..156
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     Protein         1..156
                     /product="39S ribosomal protein L14, mitochondrial isoform
                     b"
                     /note="39S ribosomal protein L14, mitochondrial; 39S
                     ribosomal protein L32, mitochondrial; mitochondrial large
                     ribosomal subunit protein uL14m"
                     /calculated_mol_wt=17095
     Region          44..152
                     /region_name="Ribosomal_L14"
                     /note="Ribosomal protein L14p/L23e; cl00328"
                     /db_xref="CDD:444840"
     CDS             1..156
                     /gene="MRPL14"
                     /gene_synonym="L14mt; L32mt; MRP-L14; MRP-L32; MRPL32;
                     RMPL32; RPML32"
                     /coded_by="NM_001318769.2:28..498"
                     /note="isoform b is encoded by transcript variant 4"
                     /db_xref="GeneID:64928"
                     /db_xref="HGNC:HGNC:14279"
                     /db_xref="MIM:611827"
ORIGIN      
        1 mnfatdlswd pmafftglwg pftcvsrvls hhcfsttgsl saiqkmtrvr vvdnsalgns
       61 pyhraprcih vykkngvgkv gdqillaikg qkkkalivgh cmpgprmtpr fdsnnvvlie
      121 dngnpvgtri ktpiptslrk regeyskvla iaqnfv
//
LOCUS       NP_001230823             152 aa            linear   PRI 29-DEC-2022
DEFINITION  tumor protein D54 isoform i [Homo sapiens].
ACCESSION   NP_001230823
VERSION     NP_001230823.1
DBSOURCE    REFSEQ: accession NM_001243894.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 152)
  AUTHORS   Zhang X, O'Brien D and Zhang X.
  TITLE     Investigation of Transcript Variant 6 of TPD52L2 as a Prognostic
            and Predictive Biomarker in Basal-Like MDA-MB-231 and MDA-MB-453
            Cell Lines for Breast Cancer
  JOURNAL   Oxid Med Cell Longev 2022, 7078787 (2022)
   PUBMED   36071863
  REMARK    GeneRIF: Investigation of Transcript Variant 6 of TPD52L2 as a
            Prognostic and Predictive Biomarker in Basal-Like MDA-MB-231 and
            MDA-MB-453 Cell Lines for Breast Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 152)
  AUTHORS   Kusumaatmaja H, May AI and Knorr RL.
  TITLE     Intracellular wetting mediates contacts between liquid compartments
            and membrane-bound organelles
  JOURNAL   J Cell Biol 220 (10) (2021)
   PUBMED   34427635
  REMARK    GeneRIF: Intracellular wetting mediates contacts between liquid
            compartments and membrane-bound organelles.
REFERENCE   3  (residues 1 to 152)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 152)
  AUTHORS   Qiang Z, Jun-Jie L, Hai W, Hong L, Bing-Xi L, Lei C, Wei X, Ya-Wei
            L, Huang A, Song-Tao Q and Yun-Tao L.
  TITLE     TPD52L2 impacts proliferation, invasiveness and apoptosis of
            glioblastoma cells via modulation of wnt/beta-catenin/snail
            signaling
  JOURNAL   Carcinogenesis 39 (2), 214-224 (2018)
   PUBMED   29106517
  REMARK    GeneRIF: TPD52L2 is an important biomarker influencing glioblastoma
            prognosis
REFERENCE   5  (residues 1 to 152)
  AUTHORS   Shehata M, Bieche I, Boutros R, Weidenhofer J, Fanayan S, Spalding
            L, Zeps N, Byth K, Bright RK, Lidereau R and Byrne JA.
  TITLE     Nonredundant functions for tumor protein D52-like proteins support
            specific targeting of TPD52
  JOURNAL   Clin Cancer Res 14 (16), 5050-5060 (2008)
   PUBMED   18698023
REFERENCE   6  (residues 1 to 152)
  AUTHORS   Barbaric D, Byth K, Dalla-Pozza L and Byrne JA.
  TITLE     Expression of tumor protein D52-like genes in childhood leukemia at
            diagnosis: clinical and sample considerations
  JOURNAL   Leuk Res 30 (11), 1355-1363 (2006)
   PUBMED   16620967
  REMARK    GeneRIF: The results indicate that tumor protein D52-like 2 genes
            are not ubiquitously expressed in leukemic bone marrow in children,
            and that RNA sample parameters may influence measures of gene
            expression more than commonly appreciated.
REFERENCE   7  (residues 1 to 152)
  AUTHORS   Boutros R, Bailey AM, Wilson SH and Byrne JA.
  TITLE     Alternative splicing as a mechanism for regulating 14-3-3 binding:
            interactions between hD53 (TPD52L1) and 14-3-3 proteins
  JOURNAL   J Mol Biol 332 (3), 675-687 (2003)
   PUBMED   12963375
REFERENCE   8  (residues 1 to 152)
  AUTHORS   Wilson SH, Bailey AM, Nourse CR, Mattei MG and Byrne JA.
  TITLE     Identification of MAL2, a novel member of the mal proteolipid
            family, though interactions with TPD52-like proteins in the yeast
            two-hybrid system
  JOURNAL   Genomics 76 (1-3), 81-88 (2001)
   PUBMED   11549320
REFERENCE   9  (residues 1 to 152)
  AUTHORS   Nourse CR, Mattei MG, Gunning P and Byrne JA.
  TITLE     Cloning of a third member of the D52 gene family indicates
            alternative coding sequence usage in D52-like transcripts
  JOURNAL   Biochim Biophys Acta 1443 (1-2), 155-168 (1998)
   PUBMED   9838088
REFERENCE   10 (residues 1 to 152)
  AUTHORS   Byrne JA, Nourse CR, Basset P and Gunning P.
  TITLE     Identification of homo- and heteromeric interactions between
            members of the breast carcinoma-associated D52 protein family using
            the yeast two-hybrid system
  JOURNAL   Oncogene 16 (7), 873-881 (1998)
   PUBMED   9484778
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA871584.1, DA689198.1 and
            AL118506.27.
            
            Summary: This gene encodes a member of the tumor protein D52-like
            family. These proteins are characterized by an N-terminal
            coiled-coil motif that is used to form homo- and heteromeric
            complexes with other tumor protein D52-like proteins. Expression of
            this gene may be a marker for breast cancer and acute lymphoblastic
            leukemia. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene, and a
            pseudogene of this gene is located on the long arm of chromosome
            12. [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (9) lacks four consecutive exons
            in the coding region, but maintains the reading frame, compared to
            variant 1. The encoded isoform (i) is shorter than isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.414654.1,
                                           SRR14038192.1462390.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..152
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     Protein         1..152
                     /product="tumor protein D54 isoform i"
                     /note="HCCR-binding protein 2; tumor protein D54; tumor
                     protein D52 like 2"
                     /calculated_mol_wt=16175
     Region          55..114
                     /region_name="TPD52"
                     /note="tumor protein D52 family; pfam04201"
                     /db_xref="CDD:427780"
     CDS             1..152
                     /gene="TPD52L2"
                     /gene_synonym="D54; TPD54"
                     /coded_by="NM_001243894.2:97..555"
                     /note="isoform i is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS74753.1"
                     /db_xref="GeneID:7165"
                     /db_xref="HGNC:HGNC:12007"
                     /db_xref="MIM:603747"
ORIGIN      
        1 mdsagqdinl nspnkgllsd smtdvpvdtg vaartpaveg lteaeeeelr aeltkveeei
       61 vtlrqvlaak erhcgelkrr lglstlgelk qnlsrswhdv qvssansatf ksfedrvgti
      121 kskvvgdren gsdnlpssag sgdkplsdpa pf
//
LOCUS       NP_055103                177 aa            linear   PRI 29-DEC-2022
DEFINITION  centromere protein R isoform 2 [Homo sapiens].
ACCESSION   NP_055103
VERSION     NP_055103.3
DBSOURCE    REFSEQ: accession NM_014288.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 177)
  AUTHORS   Liang Q, Tan C, Xiao F, Yin F, Liu M, Lei L, Wu L, Yang Y, Tan HJJ,
            Liu S and Zeng X.
  TITLE     Integrated profiling identifies ITGB3BP as prognostic biomarker for
            hepatocellular carcinoma
  JOURNAL   Bosn J Basic Med Sci 21 (6), 712-723 (2021)
   PUBMED   33974527
  REMARK    GeneRIF: Integrated profiling identifies ITGB3BP as prognostic
            biomarker for hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 177)
  AUTHORS   Cao Z, Ge S, Xu Z and Ma YQ.
  TITLE     beta3-Endonexin interacts with ninein in vascular endothelial cells
            to promote angiogenesis
  JOURNAL   Biochem Biophys Res Commun 566, 75-79 (2021)
   PUBMED   34118594
  REMARK    GeneRIF: beta3-Endonexin interacts with ninein in vascular
            endothelial cells to promote angiogenesis.
REFERENCE   3  (residues 1 to 177)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 177)
  AUTHORS   Cai,C., Song,X. and Yu,C.
  TITLE     Identification of genes in hepatocellular carcinoma induced by
            non-alcoholic fatty liver disease
  JOURNAL   Cancer Biomark 29 (1), 69-78 (2020)
   PUBMED   32623384
  REMARK    GeneRIF: Identification of genes in hepatocellular carcinoma
            induced by non-alcoholic fatty liver disease.
REFERENCE   5  (residues 1 to 177)
  AUTHORS   Li D, Wang F and Samuels HH.
  TITLE     Domain structure of the NRIF3 family of coregulators suggests
            potential dual roles in transcriptional regulation
  JOURNAL   Mol Cell Biol 21 (24), 8371-8384 (2001)
   PUBMED   11713274
REFERENCE   6  (residues 1 to 177)
  AUTHORS   Ohtoshi A, Maeda T, Higashi H, Ashizawa S, Yamada M and Hatakeyama
            M.
  TITLE     beta3-endonexin as a novel inhibitor of cyclin A-associated kinase
  JOURNAL   Biochem Biophys Res Commun 267 (3), 947-952 (2000)
   PUBMED   10673397
REFERENCE   7  (residues 1 to 177)
  AUTHORS   Tang S, Gao Y and Ware JA.
  TITLE     Enhancement of endothelial cell migration and in vitro tube
            formation by TAP20, a novel beta 5 integrin-modulating, PKC
            theta-dependent protein
  JOURNAL   J Cell Biol 147 (5), 1073-1084 (1999)
   PUBMED   10579726
REFERENCE   8  (residues 1 to 177)
  AUTHORS   Li D, Desai-Yajnik V, Lo E, Schapira M, Abagyan R and Samuels HH.
  TITLE     NRIF3 is a novel coactivator mediating functional specificity of
            nuclear hormone receptors
  JOURNAL   Mol Cell Biol 19 (10), 7191-7202 (1999)
   PUBMED   10490654
REFERENCE   9  (residues 1 to 177)
  AUTHORS   Kashiwagi H, Schwartz MA, Eigenthaler M, Davis KA, Ginsberg MH and
            Shattil SJ.
  TITLE     Affinity modulation of platelet integrin alphaIIbbeta3 by
            beta3-endonexin, a selective binding partner of the beta3 integrin
            cytoplasmic tail
  JOURNAL   J Cell Biol 137 (6), 1433-1443 (1997)
   PUBMED   9182673
REFERENCE   10 (residues 1 to 177)
  AUTHORS   Shattil SJ, O'Toole T, Eigenthaler M, Thon V, Williams M, Babior BM
            and Ginsberg MH.
  TITLE     Beta 3-endonexin, a novel polypeptide that interacts specifically
            with the cytoplasmic tail of the integrin beta 3 subunit
  JOURNAL   J Cell Biol 131 (3), 807-816 (1995)
   PUBMED   7593198
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU853146.1, BC009929.2 and
            AA873717.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 11, 2003 this sequence version replaced NP_055103.2.
            
            Summary: This gene encodes a transcriptional coregulator that binds
            to and enhances the activity of members of the nuclear receptor
            families, thyroid hormone receptors and retinoid X receptors. This
            protein also acts as a corepressor of NF-kappaB-dependent
            signaling. This protein induces apoptosis in breast cancer cells
            through a caspase 2-mediated signaling pathway. This protein is
            also a component of the centromere-specific histone H3 variant
            nucleosome associated complex (CENP-NAC) and may be involved in
            mitotic progression by recruiting the histone H3 variant CENP-A to
            the centromere. Alternate splicing results in multiple transcript
            variants. [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. Isoform 2 is
            shorter, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC009929.2, AF175306.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000271002.15/ ENSP00000271002.10
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..177
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     Protein         1..177
                     /product="centromere protein R isoform 2"
                     /note="beta 3 endonexin; centromere protein R; integrin
                     beta-3-binding protein; nuclear receptor-interacting
                     factor 3; integrin beta 3 binding protein
                     (beta3-endonexin)"
                     /calculated_mol_wt=20063
     Region          9..13
                     /region_name="LXXLL motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13352.2)"
     Site            17
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q13352.2)"
     Region          20..50
                     /region_name="DD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13352.2)"
     Region          25..161
                     /region_name="CENP-R"
                     /note="Kinetochore component, CENP-R; pfam06729"
                     /db_xref="CDD:429086"
     Site            28
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:11713274; propagated from
                     UniProtKB/Swiss-Prot (Q13352.2)"
     Region          41..81
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13352.2)"
     Region          63..66
                     /region_name="Nuclear localization signal"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13352.2)"
     Site            71
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13352.2)"
     Region          172..176
                     /region_name="LXXIL motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13352.2)"
     CDS             1..177
                     /gene="ITGB3BP"
                     /gene_synonym="CENP-R; CENPR; HSU37139; NRIF3; TAP20"
                     /coded_by="NM_014288.5:93..626"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS30736.1"
                     /db_xref="GeneID:23421"
                     /db_xref="HGNC:HGNC:6157"
                     /db_xref="MIM:605494"
ORIGIN      
        1 mpvkrslkld glleensfdp skitrkksvi tyspttgtcq mslfasptss eeqkhrngls
       61 nekrkklnhp slteskestt kdndefmmll skveklseei meimqnlssi qalegsrele
      121 nligiscash flkremqktk elmtkvnkqk lfekstglph kasrhldsye flkailn
//
LOCUS       NP_001374356              83 aa            linear   PRI 30-DEC-2022
DEFINITION  zinc finger protein 544 isoform 21 [Homo sapiens].
ACCESSION   NP_001374356
VERSION     NP_001374356.1
DBSOURCE    REFSEQ: accession NM_001387427.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 83)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 83)
  AUTHORS   Sugis E, Dauvillier J, Leontjeva A, Adler P, Hindie V, Moncion T,
            Collura V, Daudin R, Loe-Mie Y, Herault Y, Lambert JC, Hermjakob H,
            Pupko T, Rain JC, Xenarios I, Vilo J, Simonneau M and Peterson H.
  TITLE     HENA, heterogeneous network-based data set for Alzheimer's disease
  JOURNAL   Sci Data 6 (1), 151 (2019)
   PUBMED   31413325
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 83)
  AUTHORS   Lasky-Su J, Neale BM, Franke B, Anney RJ, Zhou K, Maller JB,
            Vasquez AA, Chen W, Asherson P, Buitelaar J, Banaschewski T,
            Ebstein R, Gill M, Miranda A, Mulas F, Oades RD, Roeyers H,
            Rothenberger A, Sergeant J, Sonuga-Barke E, Steinhausen HC, Taylor
            E, Daly M, Laird N, Lange C and Faraone SV.
  TITLE     Genome-wide association scan of quantitative traits for attention
            deficit hyperactivity disorder identifies novel associations and
            confirms candidate gene associations
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 147B (8), 1345-1354 (2008)
   PUBMED   18821565
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC020915.6.
            
            Transcript Variant: This variant (52), as well as variants 51 and
            53, encodes isoform 21.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR12921934.2562732.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..83
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     Protein         1..83
                     /product="zinc finger protein 544 isoform 21"
                     /calculated_mol_wt=9209
     Region          14..>53
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     CDS             1..83
                     /gene="ZNF544"
                     /coded_by="NM_001387427.1:351..602"
                     /note="isoform 21 is encoded by transcript variant 52"
                     /db_xref="GeneID:27300"
                     /db_xref="HGNC:HGNC:16759"
ORIGIN      
        1 mearsmlvpp qasvcfedva maftqeeweq ldlaqrtlyr evtletwehi vslagarrgp
       61 vqgraggppr nletdnlsri qgk
//
LOCUS       NP_001229728             402 aa            linear   PRI 30-DEC-2022
DEFINITION  zinc finger protein 322 [Homo sapiens].
ACCESSION   NP_001229728
VERSION     NP_001229728.1
DBSOURCE    REFSEQ: accession NM_001242799.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 402)
  AUTHORS   Lin CC, Kuo IY, Wu LT, Kuan WH, Liao SY, Jen J, Yang YE, Tang CW,
            Chen YR and Wang YC.
  TITLE     Dysregulated Kras/YY1/ZNF322A/Shh transcriptional axis enhances
            neo-angiogenesis to promote lung cancer progression
  JOURNAL   Theranostics 10 (22), 10001-10015 (2020)
   PUBMED   32929330
  REMARK    GeneRIF: Dysregulated Kras/YY1/ZNF322A/Shh transcriptional axis
            enhances neo-angiogenesis to promote lung cancer progression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 402)
  AUTHORS   Cheung CHY, Hsu CL, Lin TY, Chen WT, Wang YC, Huang HC and Juan HF.
  TITLE     ZNF322A-mediated protein phosphorylation induces autophagosome
            formation through modulation of IRS1-AKT glucose uptake and
            HSP-elicited UPR in lung cancer
  JOURNAL   J Biomed Sci 27 (1), 75 (2020)
   PUBMED   32576196
  REMARK    GeneRIF: ZNF322A-mediated protein phosphorylation induces
            autophagosome formation through modulation of IRS1-AKT glucose
            uptake and HSP-elicited UPR in lung cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 402)
  AUTHORS   Liao SY, Kuo IY, Chen YT, Liao PC, Liu YF, Wu HY, Lai WW and Wang
            YC.
  TITLE     AKT-mediated phosphorylation enhances protein stability and
            transcription activity of ZNF322A to promote lung cancer
            progression
  JOURNAL   Oncogene 38 (41), 6723-6736 (2019)
   PUBMED   31399647
  REMARK    GeneRIF: results reveal a new mechanism of AKT signaling in
            promoting ZNF322A protein stability and transcriptional activity in
            lung cancer cell, xenograft, and clinical models
REFERENCE   4  (residues 1 to 402)
  AUTHORS   Jen J, Liu CY, Chen YT, Wu LT, Shieh YC, Lai WW and Wang YC.
  TITLE     Oncogenic zinc finger protein ZNF322A promotes stem cell-like
            properties in lung cancer through transcriptional suppression of
            c-Myc expression
  JOURNAL   Cell Death Differ 26 (7), 1283-1298 (2019)
   PUBMED   30258097
  REMARK    GeneRIF: The ZNF322A-centered transcriptome promotes lung
            tumorigenesis and ZNF322A acts as a transcription suppressor of
            c-Myc to maintain lung cancer stem cell-like properties by shifting
            metabolism towards oxidative phosphorylation.
REFERENCE   5  (residues 1 to 402)
  AUTHORS   Hu X, Zhang M, Miao J, Wang X and Huang C.
  TITLE     miRNA-4317 suppresses human gastric cancer cell proliferation by
            targeting ZNF322
  JOURNAL   Cell Biol Int 42 (8), 923-930 (2018)
   PUBMED   28880489
  REMARK    GeneRIF: Silencing ZNF322 recapitulated the cellular and molecular
            effects seen upon miR-4317 overexpression.
REFERENCE   6  (residues 1 to 402)
  AUTHORS   Liao SY, Chiang CW, Hsu CH, Chen YT, Jen J, Juan HF, Lai WW and
            Wang YC.
  TITLE     CK1delta/GSK3beta/FBXW7alpha axis promotes degradation of the
            ZNF322A oncoprotein to suppress lung cancer progression
  JOURNAL   Oncogene 36 (41), 5722-5733 (2017)
   PUBMED   28581525
  REMARK    GeneRIF: Our results reveal a new mechanism of ZNF322A oncoprotein
            destruction regulated by the CK1delta/GSK3beta/FBXW7a axis.
            Deregulation of this signaling axis results in ZNF322A
            overexpression and promotes cancer progression
REFERENCE   7  (residues 1 to 402)
  AUTHORS   Jen J, Lin LL, Chen HT, Liao SY, Lo FY, Tang YA, Su WC, Salgia R,
            Hsu CL, Huang HC, Juan HF and Wang YC.
  TITLE     Oncoprotein ZNF322A transcriptionally deregulates alpha-adducin,
            cyclin D1 and p53 to promote tumor growth and metastasis in lung
            cancer
  JOURNAL   Oncogene 35 (18), 2357-2369 (2016)
   PUBMED   26279304
  REMARK    GeneRIF: ZNF322A overexpression transcriptionally dysregulates
            genes involved in cell growth and motility therefore contributes to
            lung tumorigenesis and poor prognosis
            Erratum:[Oncogene. 2017 Aug;36(31):4526. PMID: 28368404]
REFERENCE   8  (residues 1 to 402)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   9  (residues 1 to 402)
  AUTHORS   Li Y, Wang Y, Zhang C, Yuan W, Wang J, Zhu C, Chen L, Huang W, Zeng
            W, Wu X and Liu M.
  TITLE     ZNF322, a novel human C2H2 Kruppel-like zinc-finger protein,
            regulates transcriptional activation in MAPK signaling pathways
  JOURNAL   Biochem Biophys Res Commun 325 (4), 1383-1392 (2004)
   PUBMED   15555580
  REMARK    GeneRIF: These results suggest that ZNF322 is a member of the
            zinc-finger transcription factor family and may act as a positive
            regulator in gene transcription mediated by the MAPK signaling
            pathways.
REFERENCE   10 (residues 1 to 402)
  AUTHORS   Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L,
            Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard
            A, Glueck D, McGavran L, Berry R, Pollack J and Sikela JM.
  TITLE     Lineage-specific gene duplication and loss in human and great ape
            evolution
  JOURNAL   PLoS Biol 2 (7), E207 (2004)
   PUBMED   15252450
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL513548.8 and DB454351.1.
            
            Summary: ZNF322A is a member of the zinc-finger transcription
            factor family and may regulate transcriptional activation in MAPK
            (see MAPK1; MIM 176948) signaling pathways (Li et al., 2004 [PubMed
            15555580]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.27898.1,
                                           SRR14038191.2105143.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467150 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..402
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.2"
     Protein         1..402
                     /product="zinc finger protein 322"
                     /note="HLA complex group 12; zinc finger protein 489; zinc
                     finger protein 388; zinc finger protein 322A"
                     /calculated_mol_wt=46810
     Region          45..65
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <69..219
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          73..93
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          101..121
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          129..149
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(134,136,138,140..141,144..145,148,162,164,168..169,
                     172..173,176,190,192,194,196..197,200..201,204)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          157..177
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          185..205
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <207..291
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          213..233
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          241..261
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          269..289
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          295..315
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          353..373
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            391
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6U7Q0.2)"
     CDS             1..402
                     /gene="ZNF322"
                     /gene_synonym="HCG12; ZNF322A; ZNF388; ZNF489"
                     /coded_by="NM_001242799.2:552..1760"
                     /db_xref="CCDS:CCDS4617.1"
                     /db_xref="GeneID:79692"
                     /db_xref="HGNC:HGNC:23640"
                     /db_xref="MIM:610847"
ORIGIN      
        1 mytseekcnq rtqkrkiynv cprkgkkifi hmheiiqidg hiyqcleckq nfcenlalim
       61 certhtgekp ykcdmcektf vqssdltshq rihnyekpyk cskceksfwh hlalsghqrt
      121 hagkkfytcd icgknfgqss dllvhqrsht gekpylcsec dkcfsrstnl irhrrthtge
      181 kpfkclecek afsgksdlis hqrthtgerp ykcnkceksy rhrsafivhk rvhtgekpyk
      241 cgacekcfgq ksdlivhqrv htgekpykcl ecmrsftrsa nlirhqatht htfkcleyek
      301 sfncssdliv hqrihmeekp hqwsacesgf llgmdfvaqq kmrtqteelh ykytvcdksf
      361 hqssallqhq tvhigekpfv cnvsekglel spphaseasq ms
//
LOCUS       NP_001374095            1103 aa            linear   PRI 30-DEC-2022
DEFINITION  ataxin-2-like protein isoform 8 [Homo sapiens].
ACCESSION   NP_001374095
VERSION     NP_001374095.1
DBSOURCE    REFSEQ: accession NM_001387166.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1103)
  AUTHORS   Lin L, Li X, Pan C, Lin W, Shao R, Liu Y, Zhang J, Luo Y, Qian K,
            Shi M, Bin J, Liao Y and Liao W.
  TITLE     ATXN2L upregulated by epidermal growth factor promotes gastric
            cancer cell invasiveness and oxaliplatin resistance
  JOURNAL   Cell Death Dis 10 (3), 173 (2019)
   PUBMED   30787271
  REMARK    GeneRIF: ATXN2L promotes cell invasiveness and oxaliplatin
            resistance and can be upregulated by EGF via PI3K/Akt signaling.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1103)
  AUTHORS   Kaehler C, Guenther A, Uhlich A and Krobitsch S.
  TITLE     PRMT1-mediated arginine methylation controls ATXN2L localization
  JOURNAL   Exp Cell Res 334 (1), 114-125 (2015)
   PUBMED   25748791
  REMARK    GeneRIF: ATXN2L associates with the protein
            arginine-N-methyltransferase 1 (PRMT1).
REFERENCE   3  (residues 1 to 1103)
  AUTHORS   Guo Z, Neilson LJ, Zhong H, Murray PS, Zanivan S and Zaidel-Bar R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1103)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen
            AA, Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke
            L, Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM,
            Tiemeier H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst
            FC, Ward ME, Wright MJ, Davey Smith G, Deary IJ, Johannesson M,
            Plomin R, Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   5  (residues 1 to 1103)
  AUTHORS   Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB,
            Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G,
            Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J,
            Graslund S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ
            and Greenblatt J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
REFERENCE   6  (residues 1 to 1103)
  AUTHORS   Ong SE, Mittler G and Mann M.
  TITLE     Identifying and quantifying in vivo methylation sites by heavy
            methyl SILAC
  JOURNAL   Nat Methods 1 (2), 119-126 (2004)
   PUBMED   15782174
REFERENCE   7  (residues 1 to 1103)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   8  (residues 1 to 1103)
  AUTHORS   Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M and
            Peters EC.
  TITLE     Robust phosphoproteomic profiling of tyrosine phosphorylation sites
            from human T cells using immobilized metal affinity chromatography
            and tandem mass spectrometry
  JOURNAL   Anal Chem 76 (10), 2763-2772 (2004)
   PUBMED   15144186
REFERENCE   9  (residues 1 to 1103)
  AUTHORS   Figueroa KP and Pulst SM.
  TITLE     Identification and expression of the gene for human
            ataxin-2-related protein on chromosome 16
  JOURNAL   Exp Neurol 184 (2), 669-678 (2003)
   PUBMED   14769358
REFERENCE   10 (residues 1 to 1103)
  AUTHORS   Meunier C, Bordereaux D, Porteu F, Gisselbrecht S, Chretien S and
            Courtois G.
  TITLE     Cloning and characterization of a family of proteins associated
            with Mpl
  JOURNAL   J Biol Chem 277 (11), 9139-9147 (2002)
   PUBMED   11784712
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC145285.2, AC116346.2 and
            AC133550.2.
            
            Summary: This gene encodes an ataxin type 2 related protein of
            unknown function. This protein is a member of the spinocerebellar
            ataxia (SCAs) family, which is associated with a complex group of
            neurodegenerative disorders. Several alternatively spliced
            transcripts encoding different isoforms have been found for this
            gene. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2720479.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1103
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     Protein         1..1103
                     /product="ataxin-2-like protein isoform 8"
                     /note="ataxin 2 related protein; ataxin-2 domain protein;
                     ataxin-2-like protein"
                     /calculated_mol_wt=116074
     Region          1..115
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          98..121
                     /region_name="Interaction with MPL.
                     /evidence=ECO:0000269|PubMed:11784712"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            103
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            111
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            118
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          123..196
                     /region_name="SM-ATX"
                     /note="Ataxin 2 SM domain; pfam14438"
                     /db_xref="CDD:433954"
     Site            207
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q7TQH0; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          209..750
                     /region_name="PBP1"
                     /note="PAB1-binding protein PBP1, interacts with
                     poly(A)-binding protein [RNA processing and modification];
                     COG5180"
                     /db_xref="CDD:227507"
     Site            238
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          264..326
                     /region_name="LsmAD"
                     /note="LsmAD domain; pfam06741"
                     /db_xref="CDD:429091"
     Site            264
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15144186; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            306
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            309
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15144186; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            335
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            339
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            349
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15144186; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            361
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000269|PubMed:25748791; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            391
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            409
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            455
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            499
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            502
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          557..703
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            563
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7TQH0; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            564
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            565
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            569
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            600
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            638
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            640
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          <667..>947
                     /region_name="PRK10263"
                     /note="DNA translocase FtsK; Provisional"
                     /db_xref="CDD:236669"
     Site            680
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            686
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            690
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          739..776
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          826..855
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          871..946
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          1028..1051
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     CDS             1..1103
                     /gene="ATXN2L"
                     /gene_synonym="A2D; A2LG; A2LP; A2RP"
                     /coded_by="NM_001387166.1:262..3573"
                     /note="isoform 8 is encoded by transcript variant 8"
                     /db_xref="GeneID:11273"
                     /db_xref="HGNC:HGNC:31326"
                     /db_xref="MIM:607931"
ORIGIN      
        1 mlkpqplqqp sqpqqppptq qavarrppgg tsppngglpg platsaappg ppaaaspclg
       61 pvaaagsglr rgaegilapq ppppqqhqer pgaaaigsar gqstgkgppq spvfegvynn
      121 srmlhfltav vgstcdvkvk ngttyegifk tlsskfelav davhrkasep aggprrediv
      181 dtmvfkpsdv mlvhfrnvdf nyatkdkftd saiamnskvn gehkekvlqr weggdsnsdd
      241 ydlesdmsng wdpnemfkfn eenygvktty dsslssytvp lekdnseefr qrelraaqla
      301 reiesspqyr lriamenddg rteeekhsav qrqgsgresp slasregkyi plpqrvregp
      361 rggvrcsssr ggrpglsslp prgphhldns spgpgsearg inggpsrmsp kaqrplrgak
      421 tlsspsnrps getsvppppa appflpvgrm ypprspksaa papisascpe ppigsavpts
      481 sasipvtssv sdpgvgsisp aspkislapt dvkelstkep grtlepqela riagkvpglq
      541 neqkrfqlee lrkfgaqfkl qpssspensl dpfpprilke epkgkekevd glltsepmgs
      601 pvssktesvs dkedkpplap sggtegpeqp pppcpsqtgs ppvglikged kdegpvaeqv
      661 kkstlnpnak efnptkplls vnkststpts pgprthstps ipvltagqsg lyspqyisyi
      721 pqihmgpavq apqmypypvs nsvpgqqgky rgakgslppq rsdqhqpasa ppmmqaaaaa
      781 gpplvaatpy ssyipynpqq fpgqpammqp mahypsqpvf apmlqsnprm ltsgshpqai
      841 vssstpqyps aeqptpqaly atvhqsyphh atqlhahqpq pattptgsqp qsqhaapspv
      901 qhqagqaphl gsgqpqqnly hpgaltgtpp slppgpsaqs pqssfpqpaa vyaihhqqlp
      961 hgftnmahvt qahvqtgita appphpgaph ppqvmllhpp qshggppqga vpqsgvpals
     1021 astpspypyi ghpqgeqpgq apgfpggadd rilcrvgrsh srrrqglapg svlcfppssl
     1081 scdpaaplpt aspalsdpdc llt
//
LOCUS       NP_001167563             291 aa            linear   PRI 30-DEC-2022
DEFINITION  transmembrane protein 185A isoform 2 [Homo sapiens].
ACCESSION   NP_001167563
VERSION     NP_001167563.1
DBSOURCE    REFSEQ: accession NM_001174092.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 291)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 291)
  AUTHORS   Kim YS, Hwan JD, Bae S, Bae DH and Shick WA.
  TITLE     Identification of differentially expressed genes using an annealing
            control primer system in stage III serous ovarian carcinoma
  JOURNAL   BMC Cancer 10, 576 (2010)
   PUBMED   20969748
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 291)
  AUTHORS   Lukusa T and Fryns JP.
  TITLE     Human chromosome fragility
  JOURNAL   Biochim Biophys Acta 1779 (1), 3-16 (2008)
   PUBMED   18078840
  REMARK    Review article
REFERENCE   4  (residues 1 to 291)
  AUTHORS   Maurer MH, Grunewald S, Gassler N, Rossner M, Propst F, Wurz R,
            Weber D, Kuner T, Kuschinsky W and Schneider A.
  TITLE     Cloning of a novel neuronally expressed orphan G-protein-coupled
            receptor which is up-regulated by erythropoietin, interacts with
            microtubule-associated protein 1b and colocalizes with the
            5-hydroxytryptamine 2a receptor
  JOURNAL   J Neurochem 91 (4), 1007-1017 (2004)
   PUBMED   15525354
  REMARK    GeneRIF: The mouse ee3 is an orphan G-protein-coupled receptor with
            potential connections to erythropoietin and 5HT2a receptor
            signalling. ee3_2, a similar gene, is also described, along with
            human orthologs.
REFERENCE   5  (residues 1 to 291)
  AUTHORS   Steiner CE, Guerreiro MM and Marques-de-Faria AP.
  TITLE     Genetic and neurological evaluation in a sample of individuals with
            pervasive developmental disorders
  JOURNAL   Arq Neuropsiquiatr 61 (2A), 176-180 (2003)
   PUBMED   12806492
  REMARK    GeneRIF: Observational study of genetic testing. (HuGE Navigator)
REFERENCE   6  (residues 1 to 291)
  AUTHORS   Holden JJ, Walker M, Chalifoux M and White BN.
  TITLE     Trinucleotide repeats at the FRAXF locus: frequency and
            distribution in the general population
  JOURNAL   Am J Med Genet 64 (2), 424-427 (1996)
   PUBMED   8844097
REFERENCE   7  (residues 1 to 291)
  AUTHORS   Holden JJ, Wing M, Chalifoux M, Julien-Inalsingh C, Schutz C,
            Robinson P, Szatmari P and White BN.
  TITLE     Lack of expansion of triplet repeats in the FMR1, FRAXE, and FRAXF
            loci in male multiplex families with autism and pervasive
            developmental disorders
  JOURNAL   Am J Med Genet 64 (2), 399-403 (1996)
   PUBMED   8844091
REFERENCE   8  (residues 1 to 291)
  AUTHORS   Ritchie RJ, Knight SJ, Hirst MC, Grewal PK, Bobrow M, Cross GS and
            Davies KE.
  TITLE     The cloning of FRAXF: trinucleotide repeat expansion and
            methylation at a third fragile site in distal Xqter
  JOURNAL   Hum Mol Genet 3 (12), 2115-2121 (1994)
   PUBMED   7881407
REFERENCE   9  (residues 1 to 291)
  AUTHORS   Parrish JE, Oostra BA, Verkerk AJ, Richards CS, Reynolds J, Spikes
            AS, Shaffer LG and Nelson DL.
  TITLE     Isolation of a GCC repeat showing expansion in FRAXF, a fragile
            site distal to FRAXA and FRAXE
  JOURNAL   Nat Genet 8 (3), 229-235 (1994)
   PUBMED   7874164
REFERENCE   10 (residues 1 to 291)
  AUTHORS   Hirst MC, Barnicoat A, Flynn G, Wang Q, Daker M, Buckle VJ, Davies
            KE and Bobrow M.
  TITLE     The identification of a third fragile site, FRAXF, in Xq27--q28
            distal to both FRAXA and FRAXE
  JOURNAL   Hum Mol Genet 2 (2), 197-200 (1993)
   PUBMED   8499907
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF530473.1, DA206736.1 and
            AK297335.1.
            
            Summary: The protein encoded by this gene is predicted to be a
            transmembrane protein. This gene is best known for localizing to
            the CpG island of the fragile site FRAXF. The 5' untranslated
            region of this gene contains a CGG trinucleotide repeat sequence
            that normally consists of 7-40 tandem CGG repeats but which can
            expand to greater than 300 repeats. Methylation of the CpG island
            leads to transcriptional silencing of this gene, but neither the
            silencing nor an expanded repeat region appear to manifest itself
            in a clear phenotypic manner. Alternative splicing results in
            multiple transcript variants. A pseudogene of this gene has been
            defined on the X chromosome. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon, compared to variant 1. The encoded isoform (2) is shorter,
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.1742709.1,
                                           SRR14038195.2457314.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..291
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..291
                     /product="transmembrane protein 185A isoform 2"
                     /note="family with sequence similarity 11, member A;
                     fragile site, folic acid type, rare, fra(X)(q28) F"
                     /calculated_mol_wt=33774
     Region          12..194
                     /region_name="TMEM203"
                     /note="Transmembrane protein 203; cl10951"
                     /db_xref="CDD:448049"
     CDS             1..291
                     /gene="TMEM185A"
                     /gene_synonym="CXorf13; ee3; FAM11A; FRAXF"
                     /coded_by="NM_001174092.3:213..1088"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS55523.1"
                     /db_xref="GeneID:84548"
                     /db_xref="HGNC:HGNC:17125"
                     /db_xref="MIM:300031"
ORIGIN      
        1 mnlrglfqdf npraegetcv efkamliavg ihllllmfev lvcdriergs hfwllvfmpl
       61 ffvspvsvaa cvwgfrhdrs leleilcsvn ilqfifialr ldkiihwpwl vvcvplwilm
      121 sflclvvlyy ivwsvlflrs mdviaeqrrt hitmalswmt ivvplltfei llvhkldghn
      181 afscipifvp lwlslitlma ttfgqkggnh wwfgirkdfc qflleifpfl reygnisydl
      241 hhedneetee tpvpeppkia pmfrkkarvv itqspgkyvl pppklniemp d
//
LOCUS       NP_001005354              98 aa            linear   PRI 31-DEC-2022
DEFINITION  proline-rich protein 13 isoform 2 [Homo sapiens].
ACCESSION   NP_001005354
VERSION     NP_001005354.1
DBSOURCE    REFSEQ: accession NM_001005354.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 98)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 98)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 98)
  AUTHORS   Erdi F, Kaya B, Esen H, Karatas Y, Findik S, Keskin F, Feyzioglu B
            and Kalkan E.
  TITLE     New Clues in the Malignant Progression of Glioblastoma: Can the
            Thioredoxin System Play a Role?
  JOURNAL   Turk Neurosurg 28 (1), 7-12 (2018)
   PUBMED   28345125
  REMARK    GeneRIF: In primary glioblastoma samples there was a high
            expression of TXR1 in cerebral tissue compared to control tissue.
REFERENCE   4  (residues 1 to 98)
  AUTHORS   Pontikakis S, Papadaki C, Tzardi M, Trypaki M, Sfakianaki M, Koinis
            F, Lagoudaki E, Giannikaki L, Kalykaki A, Kontopodis E, Saridaki Z,
            Malamos N, Georgoulias V and Souglakos J.
  TITLE     Predictive value of ATP7b, BRCA1, BRCA2, PARP1, UIMC1 (RAP80),
            HOXA9, DAXX, TXN (TRX1), THBS1 (TSP1) and PRR13 (TXR1) genes in
            patients with epithelial ovarian cancer who received
            platinum-taxane first-line therapy
  JOURNAL   Pharmacogenomics J 17 (6), 506-514 (2017)
   PUBMED   27779244
  REMARK    GeneRIF: These findings indicate that PRR13/THBS1 and TXN
            expression could be used for the prediction of resistance to
            treatment of epithelial ovarian cancer patients.
REFERENCE   5  (residues 1 to 98)
  AUTHORS   Bi J, Bai Z, Ma X, Song J, Guo Y, Zhao J, Yi X, Han S and Zhang Z.
  TITLE     Txr1: an important factor in oxaliplatin resistance in gastric
            cancer
  JOURNAL   Med Oncol 31 (2), 807 (2014)
   PUBMED   24362794
  REMARK    GeneRIF: High Txr1 expression is associated with oxaliplatin
            resistance in gastric cancer.
REFERENCE   6  (residues 1 to 98)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   7  (residues 1 to 98)
  AUTHORS   Papadaki C, Tsaroucha E, Kaklamanis L, Lagoudaki E, Trypaki M,
            Tryfonidis K, Mavroudis D, Stathopoulos E, Georgoulias V and
            Souglakos J.
  TITLE     Correlation of BRCA1, TXR1 and TSP1 mRNA expression with treatment
            outcome to docetaxel-based first-line chemotherapy in patients with
            advanced/metastatic non-small-cell lung cancer
  JOURNAL   Br J Cancer 104 (2), 316-323 (2011)
   PUBMED   21157449
  REMARK    GeneRIF: Low TXR1 mRNA levels were associated with higher response
            rate (RR), longer median progression-free survival (PFS) and median
            overall survival (mOS), whereas high TSP1 expression was correlated
            with higher RR, longer PFS and mOS
REFERENCE   8  (residues 1 to 98)
  AUTHORS   Papadaki C, Mavroudis D, Trypaki M, Koutsopoulos A, Stathopoulos E,
            Hatzidaki D, Tsakalaki E, Georgoulias V and Souglakos J.
  TITLE     Tumoral expression of TXR1 and TSP1 predicts overall survival of
            patients with lung adenocarcinoma treated with first-line
            docetaxel-gemcitabine regimen
  JOURNAL   Clin Cancer Res 15 (11), 3827-3833 (2009)
   PUBMED   19435835
  REMARK    GeneRIF: Multivariate analysis showed that high TXR1/low TSP1
            expression was an independent prognostic factor for decreased
            median time to tumor progression (TTP) and median overall survival
            (mOS).
REFERENCE   9  (residues 1 to 98)
  AUTHORS   Lih CJ, Wei W and Cohen SN.
  TITLE     Txr1: a transcriptional regulator of thrombospondin-1 that
            modulates cellular sensitivity to taxanes
  JOURNAL   Genes Dev 20 (15), 2082-2095 (2006)
   PUBMED   16847352
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CN392914.1, BX640962.1 and AK074398.1.
            
            Transcript Variant: This variant (3) lacks an in-frame segment in
            the 5' coding region compared to variant 2. The encoded protein
            (isoform 2) is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX640962.1, CR982541.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..98
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     Protein         1..98
                     /product="proline-rich protein 13 isoform 2"
                     /note="proline-rich protein 13; taxane-resistance protein"
                     /calculated_mol_wt=10400
     CDS             1..98
                     /gene="PRR13"
                     /gene_synonym="TXR1"
                     /coded_by="NM_001005354.3:80..376"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS31811.1"
                     /db_xref="GeneID:54458"
                     /db_xref="HGNC:HGNC:24528"
                     /db_xref="MIM:610459"
ORIGIN      
        1 mwnpnaggpp hpvpqpgypg cqplgpyppp ypppapgipp vnplapgmvg pavivdkkmq
       61 kkmkkahkkm hkhqkhhkyh khgkhsssss sssssdsd
//
LOCUS       NP_001400106             159 aa            linear   PRI 01-JAN-2023
DEFINITION  protein bicaudal D homolog 1 isoform 27 [Homo sapiens].
ACCESSION   NP_001400106
VERSION     NP_001400106.1
DBSOURCE    REFSEQ: accession NM_001413177.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 159)
  AUTHORS   Jiang Y, Yao B, Chen T, Mo H, Chen S, Liu Q and Sun Y.
  TITLE     BICD1 functions as a prognostic biomarker and promotes
            hepatocellular carcinoma progression
  JOURNAL   Pathol Res Pract 216 (4), 152858 (2020)
   PUBMED   32088084
  REMARK    GeneRIF: BICD1 functions as a prognostic biomarker and promotes
            hepatocellular carcinoma progression.
REFERENCE   2  (residues 1 to 159)
  AUTHORS   Kim HJ, Seo YS, Sung J, Chae J, Yun JM, Kwon H, Cho B, Kim JI and
            Park JH.
  TITLE     A genome-wide by PM10 interaction study identifies novel loci for
            lung function near BICD1 and IL1RN-IL1F10 genes in Korean adults
  JOURNAL   Chemosphere 245, 125581 (2020)
   PUBMED   31846791
  REMARK    GeneRIF: BICD1 genes may contribute to the decrease in forced vital
            capacity levels by interacting with PM10 exposure
REFERENCE   3  (residues 1 to 159)
  AUTHORS   Atkins M, Gasmi L, Bercier V, Revenu C, Del Bene F, Hazan J and
            Fassier C.
  TITLE     FIGNL1 associates with KIF1Bbeta and BICD1 to restrict dynein
            transport velocity during axon navigation
  JOURNAL   J Cell Biol 218 (10), 3290-3306 (2019)
   PUBMED   31541015
  REMARK    GeneRIF: The disrupting Bicd1/Fignl1 interaction induced motor axon
            pathfinding defects characteristic of Fignl1 gain or loss of
            function, respectively.
REFERENCE   4  (residues 1 to 159)
  AUTHORS   Lee HJ, Jung YH, Oh JY, Choi GE, Chae CW, Kim JS, Lim JR, Kim SY,
            Lee SJ, Seong JK and Han HJ.
  TITLE     BICD1 mediates HIF1alpha nuclear translocation in mesenchymal stem
            cells during hypoxia adaptation
  JOURNAL   Cell Death Differ 26 (9), 1716-1734 (2019)
   PUBMED   30464225
  REMARK    GeneRIF: BICD1 mediates HIF1alpha nuclear translocation in
            mesenchymal stem cells during hypoxia adaptation.
REFERENCE   5  (residues 1 to 159)
  AUTHORS   Hoogenraad CC and Akhmanova A.
  TITLE     Bicaudal D Family of Motor Adaptors: Linking Dynein Motility to
            Cargo Binding
  JOURNAL   Trends Cell Biol 26 (5), 327-340 (2016)
   PUBMED   26822037
  REMARK    Review article
REFERENCE   6  (residues 1 to 159)
  AUTHORS   Tomsig JL, Snyder SL and Creutz CE.
  TITLE     Identification of targets for calcium signaling through the copine
            family of proteins. Characterization of a coiled-coil
            copine-binding motif
  JOURNAL   J Biol Chem 278 (12), 10048-10054 (2003)
   PUBMED   12522145
REFERENCE   7  (residues 1 to 159)
  AUTHORS   Matanis T, Akhmanova A, Wulf P, Del Nery E, Weide T, Stepanova T,
            Galjart N, Grosveld F, Goud B, De Zeeuw CI, Barnekow A and
            Hoogenraad CC.
  TITLE     Bicaudal-D regulates COPI-independent Golgi-ER transport by
            recruiting the dynein-dynactin motor complex
  JOURNAL   Nat Cell Biol 4 (12), 986-992 (2002)
   PUBMED   12447383
  REMARK    Erratum:[Nat Cell Biol. 2003 Jan;5(1):84.]
REFERENCE   8  (residues 1 to 159)
  AUTHORS   Short B, Preisinger C, Schaletzky J, Kopajtich R and Barr FA.
  TITLE     The Rab6 GTPase regulates recruitment of the dynactin complex to
            Golgi membranes
  JOURNAL   Curr Biol 12 (20), 1792-1795 (2002)
   PUBMED   12401177
REFERENCE   9  (residues 1 to 159)
  AUTHORS   Baens M and Marynen P.
  TITLE     A human homologue (BICD1) of the Drosophila bicaudal-D gene
  JOURNAL   Genomics 45 (3), 601-606 (1997)
   PUBMED   9367685
REFERENCE   10 (residues 1 to 159)
  AUTHORS   Baens M, Aerssens J, van Zand K, Van den Berghe H and Marynen P.
  TITLE     Isolation and regional assignment of human chromosome 12p cDNAs
  JOURNAL   Genomics 29 (1), 44-52 (1995)
   PUBMED   8530100
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC048344.44 and AC016954.43.
            
            Summary: This gene encodes an adaptor protein that belongs to the
            bicaudal D family of dynein cargo adaptors. The encoded protein
            acts as an intracellular cargo transport cofactor that regulates
            the microtubule-based loading of cargo onto the dynein motor
            complex. It also controls dynein motor activity and coordination.
            It has a domain architecture consisting of coiled-coil domains at
            the N- and C-termini that are highly conserved in other family
            members. Naturally occurring mutations in this gene are associated
            with short telomere length and emphysema. [provided by RefSeq, Aug
            2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.2173271.1,
                                           SRR14038193.484018.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2151358
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..159
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     Protein         1..159
                     /product="protein bicaudal D homolog 1 isoform 27"
                     /note="cytoskeleton-like bicaudal D protein homolog 1;
                     bicaudal D homolog 1"
                     /calculated_mol_wt=18275
     Region          14..>72
                     /region_name="hsdR"
                     /note="type I restriction enzyme EcoKI subunit R;
                     Provisional; PRK11448"
                     /db_xref="CDD:236912"
     Region          74..>143
                     /region_name="BicD"
                     /note="Microtubule-associated protein Bicaudal-D;
                     pfam09730"
                     /db_xref="CDD:430782"
     CDS             1..159
                     /gene="BICD1"
                     /gene_synonym="bic-D 1; BICD"
                     /coded_by="NM_001413177.1:486..965"
                     /note="isoform 27 is encoded by transcript variant 29"
                     /db_xref="GeneID:636"
                     /db_xref="HGNC:HGNC:1049"
                     /db_xref="MIM:602204"
ORIGIN      
        1 maaeevlqtv dhykteierl tkeltetthe kiqaaeyglv vleekltlkq qydeleaeyd
       61 slkqeleqlk eafgqsfsih rkvaedgetr eetllqesas keayylgkil emqnelkqsr
      121 avvtnvqaen erltavvqdl kenvnkreen srsdfhggr
//
LOCUS       NP_001403034             745 aa            linear   PRI 13-JAN-2023
DEFINITION  hormone-sensitive lipase isoform 5 [Homo sapiens].
ACCESSION   NP_001403034 XP_024307282
VERSION     NP_001403034.1
DBSOURCE    REFSEQ: accession NM_001416105.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 745)
  AUTHORS   Zareie R, Yuzbashian E, Rahimi H, Asghari G, Zarkesh M, Hedayati M,
            Djazayery A, Movahedi A, Mirmiran P and Khalaj A.
  TITLE     Dietary fat content and adipose triglyceride lipase and
            hormone-sensitive lipase gene expressions in adults' subcutaneous
            and visceral fat tissues
  JOURNAL   Prostaglandins Leukot Essent Fatty Acids 165, 102244 (2021)
   PUBMED   33445064
  REMARK    GeneRIF: Dietary fat content and adipose triglyceride lipase and
            hormone-sensitive lipase gene expressions in adults' subcutaneous
            and visceral fat tissues.
REFERENCE   2  (residues 1 to 745)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 745)
  AUTHORS   Shajari S, Saeed A, Smith-Cortinez NF, Heegsma J, Sydor S and Faber
            KN.
  TITLE     Hormone-sensitive lipase is a retinyl ester hydrolase in human and
            rat quiescent hepatic stellate cells
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1864 (9), 1258-1267
            (2019)
   PUBMED   31150775
  REMARK    GeneRIF: HSL regulates vitamin A metabolism in quiescent hepatic
            stellate cells.
REFERENCE   4  (residues 1 to 745)
  AUTHORS   Zolotov S, Xing C, Mahamid R, Shalata A, Sheikh-Ahmad M and Garg A.
  TITLE     Homozygous LIPE mutation in siblings with multiple symmetric
            lipomatosis, partial lipodystrophy, and myopathy
  JOURNAL   Am J Med Genet A 173 (1), 190-194 (2017)
   PUBMED   27862896
  REMARK    GeneRIF: The homozygous null LIPE mutation could result in marked
            inhibition of lipolysis from some adipose tissue depots and thus
            may induce an extremely rare phenotype of MSL and partial
            lipodystrophy in adulthood associated with complications of insulin
            resistance, such as diabetes, hypertriglyceridemia and hepatic
            steatosis.
REFERENCE   5  (residues 1 to 745)
  AUTHORS   Kase ET, Feng YZ, Badin PM, Bakke SS, Laurens C, Coue M, Langin D,
            Gaster M, Thoresen GH, Rustan AC and Moro C.
  TITLE     Primary defects in lipolysis and insulin action in skeletal muscle
            cells from type 2 diabetic individuals
  JOURNAL   Biochim Biophys Acta 1851 (9), 1194-1201 (2015)
   PUBMED   25819461
  REMARK    GeneRIF: Despite reductions in intramyocellular lipolysis and HSL
            expression, overexpression of HSL did not rescue defects in insulin
            action in skeletal myotubes from obese type 2 diabetic subjects.
REFERENCE   6  (residues 1 to 745)
  AUTHORS   Anthonsen MW, Ronnstrand L, Wernstedt C, Degerman E and Holm C.
  TITLE     Identification of novel phosphorylation sites in hormone-sensitive
            lipase that are phosphorylated in response to isoproterenol and
            govern activation properties in vitro
  JOURNAL   J Biol Chem 273 (1), 215-221 (1998)
   PUBMED   9417067
REFERENCE   7  (residues 1 to 745)
  AUTHORS   Holst LS, Langin D, Mulder H, Laurell H, Grober J, Bergh A,
            Mohrenweiser HW, Edgren G and Holm C.
  TITLE     Molecular cloning, genomic organization, and expression of a
            testicular isoform of hormone-sensitive lipase
  JOURNAL   Genomics 35 (3), 441-447 (1996)
   PUBMED   8812477
REFERENCE   8  (residues 1 to 745)
  AUTHORS   Levitt RC, Liu Z, Nouri N, Meyers DA, Brandriff B and Mohrenweiser
            HM.
  TITLE     Mapping of the gene for hormone sensitive lipase (LIPE) to
            chromosome 19q13.1-->q13.2
  JOURNAL   Cytogenet Cell Genet 69 (3-4), 211-214 (1995)
   PUBMED   7698015
REFERENCE   9  (residues 1 to 745)
  AUTHORS   Langin D, Laurell H, Holst LS, Belfrage P and Holm C.
  TITLE     Gene organization and primary structure of human hormone-sensitive
            lipase: possible significance of a sequence homology with a lipase
            of Moraxella TA144, an antarctic bacterium
  JOURNAL   Proc Natl Acad Sci U S A 90 (11), 4897-4901 (1993)
   PUBMED   8506334
REFERENCE   10 (residues 1 to 745)
  AUTHORS   Holm C, Kirchgessner TG, Svenson KL, Fredrikson G, Nilsson S,
            Miller CG, Shively JE, Heinzmann C, Sparkes RS, Mohandas T et al.
  TITLE     Hormone-sensitive lipase: sequence, expression, and chromosomal
            localization to 19 cent-q13.3
  JOURNAL   Science 241 (4872), 1503-1506 (1988)
   PUBMED   3420405
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011497.6.
            On Jan 13, 2023 this sequence version replaced XP_024307282.1.
            
            Summary: The protein encoded by this gene has a long and a short
            form, generated by use of alternative translational start codons.
            The long form is expressed in steroidogenic tissues such as testis,
            where it converts cholesteryl esters to free cholesterol for
            steroid hormone production. The short form is expressed in adipose
            tissue, among others, where it hydrolyzes stored triglycerides to
            free fatty acids. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.3922245.1,
                                           SRR14038196.1200024.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..745
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     Protein         1..745
                     /product="hormone-sensitive lipase isoform 5"
                     /EC_number="3.1.1.79"
                     /EC_number="3.1.1.23"
                     /note="lipase, hormone-sensitive; retinyl ester hydrolase;
                     monoacylglycerol lipase LIPE; hormone-sensitive lipase"
                     /calculated_mol_wt=81327
     CDS             1..745
                     /gene="LIPE"
                     /gene_synonym="AOMS4; FPLD6; HSL; LHS; REH"
                     /coded_by="NM_001416105.1:50..2287"
                     /note="isoform 5 is encoded by transcript variant 6"
                     /db_xref="GeneID:3991"
                     /db_xref="HGNC:HGNC:6621"
                     /db_xref="MIM:151750"
ORIGIN      
        1 melaggtepa eaamapaskn akegsrshgr rrwrkdkaka srlihnmdlr tmtqslvtla
       61 edniaffssq gpgetaqrls gvfagvreqa lglepalgrl lgvahlfdld petpangyrs
      121 lvhtarccla hllhksryva snrrsiffrt shnlaeleay laaltqlral vyyaqrllvt
      181 nrpgvlffeg degltadflr eyvtlhkgcf ygrclgfqft pairpflqti siglvsfgeh
      241 ykrnetglsv aasslftsgr faidpelrga eferitqnld vhfwkafwni temevlssla
      301 nmasatvrvs rllslppeaf empltadptl tvtispplah tgpgpvlvrl isydlregqd
      361 seelssliks ngqrslelwp rpqqaprsrs livhfhgggf vaqtsrshep ylkswaqelg
      421 apiisidysl apeapfpral eecffaycwa ikhcallgak tedhsnsdqk algmmglvrr
      481 dtalllrdfr lgasswlnsf lelsgrksqk msepiaepmr rsvseaalaq pqgplgtdsl
      541 knltlrdlsl rgnsetssdt pemslsaetl spstpsdvnf llppedagee aeaknelspm
      601 drglgvraaf pegfhprrss qgatqmplys spivknpfms pllapdsmlk slppvhivac
      661 aldpmlddsv mlarrlrnlg qpvtlrvved lphgfltlaa lcretrqaae lcverirlvl
      721 tppagagpsg etgaagvdgg cggrh
//
LOCUS       NP_001152825             134 aa            linear   PRI 22-JAN-2023
DEFINITION  regenerating islet-derived protein 4 isoform 2 precursor [Homo
            sapiens].
ACCESSION   NP_001152825
VERSION     NP_001152825.1
DBSOURCE    REFSEQ: accession NM_001159353.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 134)
  AUTHORS   Xiang LW, Xue H, Ha MW, Yu DY, Xiao LJ and Zheng HC.
  TITLE     The effects of REG4 expression on chemoresistance of ovarian cancer
  JOURNAL   J Obstet Gynaecol 42 (7), 3149-3157 (2022)
   PUBMED   35929918
  REMARK    GeneRIF: The effects of REG4 expression on chemoresistance of
            ovarian cancer.
REFERENCE   2  (residues 1 to 134)
  AUTHORS   Takasawa S, Tsuchida C, Sakuramoto-Tsuchida S, Uchiyama T, Makino
            M, Yamauchi A and Itaya-Hironaka A.
  TITLE     Upregulation of REG IV gene in human intestinal epithelial cells by
            lipopolysaccharide via downregulation of microRNA-24
  JOURNAL   J Cell Mol Med 26 (17), 4710-4720 (2022)
   PUBMED   35946046
  REMARK    GeneRIF: Upregulation of REG IV gene in human intestinal epithelial
            cells by lipopolysaccharide via downregulation of microRNA-24.
REFERENCE   3  (residues 1 to 134)
  AUTHORS   Bishnupuri KS, Sainathan SK, Ciorba MA, Houchen CW and Dieckgraefe
            BK.
  TITLE     Reg4 Interacts with CD44 to Regulate Proliferation and Stemness of
            Colorectal and Pancreatic Cancer Cells
  JOURNAL   Mol Cancer Res 20 (3), 387-399 (2022)
   PUBMED   34753802
  REMARK    GeneRIF: Reg4 Interacts with CD44 to Regulate Proliferation and
            Stemness of Colorectal and Pancreatic Cancer Cells.
REFERENCE   4  (residues 1 to 134)
  AUTHORS   Kang G, Oh I, Pyo J, Kang D and Son B.
  TITLE     Clinicopathological Significance and Prognostic Implications of
            REG4 Immunohistochemical Expression in Colorectal Cancer
  JOURNAL   Medicina (Kaunas) 57 (9), 938 (2021)
   PUBMED   34577861
  REMARK    GeneRIF: Clinicopathological Significance and Prognostic
            Implications of REG4 Immunohistochemical Expression in Colorectal
            Cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 134)
  AUTHORS   Chai D, Du H, Li K, Zhang X, Li X, Zhao X, Lian X and Xu Y.
  TITLE     CDX2 and Reg IV expression and correlation in gastric cancer
  JOURNAL   BMC Gastroenterol 21 (1), 92 (2021)
   PUBMED   33639844
  REMARK    GeneRIF: CDX2 and Reg IV expression and correlation in gastric
            cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 134)
  AUTHORS   Zhang Z and Henzel WJ.
  TITLE     Signal peptide prediction based on analysis of experimentally
            verified cleavage sites
  JOURNAL   Protein Sci 13 (10), 2819-2824 (2004)
   PUBMED   15340161
REFERENCE   7  (residues 1 to 134)
  AUTHORS   Zhang Y, Lai M, Lv B, Gu X, Wang H, Zhu Y, Zhu Y, Shao L and Wang
            G.
  TITLE     Overexpression of Reg IV in colorectal adenoma
  JOURNAL   Cancer Lett 200 (1), 69-76 (2003)
   PUBMED   14550954
  REMARK    GeneRIF: overexpression of Reg IV may be an early event in
            colorectal carcinogenesis.
REFERENCE   8  (residues 1 to 134)
  AUTHORS   Kamarainen M, Heiskala K, Knuutila S, Heiskala M, Winqvist O and
            Andersson LC.
  TITLE     RELP, a novel human REG-like protein with up-regulated expression
            in inflammatory and metaplastic gastrointestinal mucosa
  JOURNAL   Am J Pathol 163 (1), 11-20 (2003)
   PUBMED   12819006
  REMARK    GeneRIF: Results suggest that RELP might be involved in
            inflammatory and metaplastic responses of the gastrointestinal
            epithelium.
REFERENCE   9  (residues 1 to 134)
  AUTHORS   Violette S, Festor E, Pandrea-Vasile I, Mitchell V, Adida C,
            Dussaulx E, Lacorte JM, Chambaz J, Lacasa M and Lesuffleur T.
  TITLE     Reg IV, a new member of the regenerating gene family, is
            overexpressed in colorectal carcinomas
  JOURNAL   Int J Cancer 103 (2), 185-193 (2003)
   PUBMED   12455032
REFERENCE   10 (residues 1 to 134)
  AUTHORS   Hartupee JC, Zhang H, Bonaldo MF, Soares MB and Dieckgraefe BK.
  TITLE     Isolation and characterization of a cDNA encoding a novel member of
            the human regenerating protein family: Reg IV
  JOURNAL   Biochim Biophys Acta 1518 (3), 287-293 (2001)
   PUBMED   11311942
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY126672.1 and AL359752.11.
            
            Transcript Variant: This variant (3) lacks several 3' exons but has
            an alternate 3' end, as compared to variant 1. The resulting
            isoform (2) has a shorter and different C-terminus, as compared to
            isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY126672.1, DB010408.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..134
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p12"
     Protein         1..134
                     /product="regenerating islet-derived protein 4 isoform 2
                     precursor"
                     /note="regenerating gene type IV; gastrointestinal
                     secretory protein; regenerating islet-derived protein 4;
                     REG-4; reg IV; REG-like protein; regenerating
                     islet-derived protein IV; regenerating islet-derived
                     family, member 4"
                     /calculated_mol_wt=12677
     sig_peptide     1..22
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2334
     Region          30..>55
                     /region_name="CLECT"
                     /note="C-type lectin (CTL)/C-type lectin-like (CTLD)
                     domain; cl02432"
                     /db_xref="CDD:445781"
     Site            50
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9BYZ8.1)"
     CDS             1..134
                     /gene="REG4"
                     /gene_synonym="GISP; REG-IV; RELP"
                     /coded_by="NM_001159353.2:147..551"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS53354.1"
                     /db_xref="GeneID:83998"
                     /db_xref="HGNC:HGNC:22977"
                     /db_xref="MIM:609846"
ORIGIN      
        1 masrsmrlll llsclaktgv lgdiimrpsc apgwfyhksn cygyfrklrn wsdaevrnll
       61 pawpglsrak dqpepqisfd sgssvlpghy eekplwlvkw reegcvfnsf nsvsiaeaga
      121 vcqtldglqa htdt
//
LOCUS       NP_001185537             771 aa            linear   PRI 22-JAN-2023
DEFINITION  ensconsin isoform 1 [Homo sapiens].
ACCESSION   NP_001185537
VERSION     NP_001185537.1
DBSOURCE    REFSEQ: accession NM_001198608.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 771)
  AUTHORS   Wang R, Xie S, He Y, Zheng R, Zhang M, Jin J and Wang M.
  TITLE     MAP7 Promotes Breast Cancer Cell Migration and Invasion by
            Regulating the NF-B Pathway
  JOURNAL   Ann Clin Lab Sci 52 (5), 721-730 (2022)
   PUBMED   36261182
  REMARK    GeneRIF: MAP7 Promotes Breast Cancer Cell Migration and Invasion by
            Regulating the NF-B Pathway.
REFERENCE   2  (residues 1 to 771)
  AUTHORS   Nabawy SM, Refaat LA, Naser-Aldin HM and Rashed RA.
  TITLE     Clinical Significance of MAP-7 and FOXC1 in Egyptian Acute Myeloid
            Leukemia Patients
  JOURNAL   Asian Pac J Cancer Prev 23 (5), 1619-1626 (2022)
   PUBMED   35633546
  REMARK    GeneRIF: Clinical Significance of MAP-7 and FOXC1 in Egyptian Acute
            Myeloid Leukemia Patients.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 771)
  AUTHORS   Ferro LS, Fang Q, Eshun-Wilson L, Fernandes J, Jack A, Farrell DP,
            Golcuk M, Huijben T, Costa K, Gur M, DiMaio F, Nogales E and Yildiz
            A.
  TITLE     Structural and functional insight into regulation of kinesin-1 by
            microtubule-associated protein MAP7
  JOURNAL   Science 375 (6578), 326-331 (2022)
   PUBMED   35050657
  REMARK    GeneRIF: Structural and functional insight into regulation of
            kinesin-1 by microtubule-associated protein MAP7.
REFERENCE   4  (residues 1 to 771)
  AUTHORS   Yu L, Xie J, Liu X, Yu Y and Wang S.
  TITLE     Plasma Exosomal CircNEK9 Accelerates the Progression of Gastric
            Cancer via miR-409-3p/MAP7 Axis
  JOURNAL   Dig Dis Sci 66 (12), 4274-4289 (2021)
   PUBMED   33449227
  REMARK    GeneRIF: Plasma Exosomal CircNEK9 Accelerates the Progression of
            Gastric Cancer via miR-409-3p/MAP7 Axis.
REFERENCE   5  (residues 1 to 771)
  AUTHORS   Zhang R, Li L, Chen L, Suo Y, Fan J, Zhang S, Wang Y, Gao S and
            Wang Y.
  TITLE     MAP7 interacts with RC3H1 and cooperatively regulate cell-cycle
            progression of cervical cancer cells via activating the NF-kappaB
            signaling
  JOURNAL   Biochem Biophys Res Commun 527 (1), 56-63 (2020)
   PUBMED   32446391
  REMARK    GeneRIF: MAP7 interacts with RC3H1 and cooperatively regulate
            cell-cycle progression of cervical cancer cells via activating the
            NF-kappaB signaling.
REFERENCE   6  (residues 1 to 771)
  AUTHORS   Penttila TL, Parvinen M and Paranko J.
  TITLE     Microtubule-associated epithelial protein E-MAP-115 is localized in
            the spermatid manchette
  JOURNAL   Int J Androl 26 (3), 166-174 (2003)
   PUBMED   12755995
REFERENCE   7  (residues 1 to 771)
  AUTHORS   Bulinski JC, Odde DJ, Howell BJ, Salmon TD and Waterman-Storer CM.
  TITLE     Rapid dynamics of the microtubule binding of ensconsin in vivo
  JOURNAL   J Cell Sci 114 (Pt 21), 3885-3897 (2001)
   PUBMED   11719555
REFERENCE   8  (residues 1 to 771)
  AUTHORS   Fabre-Jonca N, Viard I, French LE and Masson D.
  TITLE     Upregulation and redistribution of E-MAP-115 (epithelial
            microtubule-associated protein of 115 kDa) in terminally
            differentiating keratinocytes is coincident with the formation of
            intercellular contacts
  JOURNAL   J Invest Dermatol 112 (2), 216-225 (1999)
   PUBMED   9989799
REFERENCE   9  (residues 1 to 771)
  AUTHORS   Masson D and Kreis TE.
  TITLE     Binding of E-MAP-115 to microtubules is regulated by cell
            cycle-dependent phosphorylation
  JOURNAL   J Cell Biol 131 (4), 1015-1024 (1995)
   PUBMED   7490279
REFERENCE   10 (residues 1 to 771)
  AUTHORS   Masson D and Kreis TE.
  TITLE     Identification and molecular characterization of E-MAP-115, a novel
            microtubule-associated protein predominantly expressed in
            epithelial cells
  JOURNAL   J Cell Biol 123 (2), 357-371 (1993)
   PUBMED   8408219
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133511.9 and AL023284.1.
            
            Summary: The product of this gene is a microtubule-associated
            protein that is predominantly expressed in cells of epithelial
            origin. Microtubule-associated proteins are thought to be involved
            in microtubule dynamics, which is essential for cell polarization
            and differentiation. This protein has been shown to be able to
            stabilize microtubules, and may serve to modulate microtubule
            functions. Studies of the related mouse protein also suggested an
            essential role in microtubule function required for
            spermatogenesis. Multiple alternatively spliced transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296556.1, SRR14372079.1035964.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..771
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.3"
     Protein         1..771
                     /product="ensconsin isoform 1"
                     /note="ensconsin; dJ325F22.2 (microtubule-associated
                     protein 7 (EMAP115, E-MAP-115)); epithelial
                     microtubule-associated protein of 115 kDa"
                     /calculated_mol_wt=86821
     Region          106..>181
                     /region_name="MAP7"
                     /note="MAP7 (E-MAP-115) family; pfam05672"
                     /db_xref="CDD:428577"
     Region          490..639
                     /region_name="MAP7"
                     /note="MAP7 (E-MAP-115) family; pfam05672"
                     /db_xref="CDD:428577"
     CDS             1..771
                     /gene="MAP7"
                     /gene_synonym="E-MAP-115; EMAP115"
                     /coded_by="NM_001198608.3:619..2934"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS56455.1"
                     /db_xref="GeneID:9053"
                     /db_xref="HGNC:HGNC:6869"
                     /db_xref="MIM:604108"
ORIGIN      
        1 mpgsatalrh erlkktnarp iplglftine edeqqkngns rrpkapdsyk vqdkknassr
       61 pasaisgqnn nhsgnkpdpp pvlrvddrqr larerreere kqlaareivw lereerarqh
      121 yekhleerkk rleeqrqkee rrraaveekr rqrleedker heavvrrtme rsqkpkqkhn
      181 rwswggslhg spsihsadpd rrsvstmnls kyvdpviskr lssssatlln spdrarrlql
      241 spwessvvnr lltpthsfla rskstaalsg eaascspiim pykaahsrns mdrpklfvtp
      301 pegssrrrii hgtasykker erenvlflts gtrravspsn pkarqparsr lwlpskslph
      361 lpgtprptss lppgsvkaap aqvrppspgn irpvkrevkv epekkdpeke pqkvanepsl
      421 kgraplvkve eatveertpa epevgpaapa mapapasapa pasapapapv ptpamvsaps
      481 stvnasasvk tsagttdpee atrllaekrr lareqrekee rerreqeele rqkreelaqr
      541 vaeerttrre eesrrleaeq arekeeqlqr qaeeralrer eeaeraqrqk eeearvreea
      601 ervrqerekh fqreeqerle rkkrleeimk rtrrteatdk ktsdqrngdi akgaltggte
      661 vsalpcttna pgngkpvgsp hvvtshqskv tvestpdlek qpnengvsvq nenfeeiinl
      721 pigskpsrld vtnsespeip lnpilafdde gtlgplpqvd gvqtqqtaev i
//
LOCUS       NP_001275956             269 aa            linear   PRI 29-JAN-2023
DEFINITION  leukocyte-associated immunoglobulin-like receptor 1 isoform g [Homo
            sapiens].
ACCESSION   NP_001275956 XP_005258979 XP_005277171 XP_005277364 XP_005278333
VERSION     NP_001275956.2
DBSOURCE    REFSEQ: accession NM_001289027.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 269)
  AUTHORS   Fang Z, Lin L, Tu Z, Zhu X, Li J, Luo P, Huang K and Wu L.
  TITLE     Development and validation of a leukocyte-associated
            immunoglobulin-like receptor-1 prognostic signature for lower-grade
            gliomas
  JOURNAL   Cancer Med 12 (1), 712-732 (2023)
   PUBMED   35702880
  REMARK    GeneRIF: Development and validation of a leukocyte-associated
            immunoglobulin-like receptor-1 prognostic signature for lower-grade
            gliomas.
REFERENCE   2  (residues 1 to 269)
  AUTHORS   Hammad R, Aglan RB, Mohammed SA, Awad EA, Elsaid MA, Bedair HM,
            Khirala SK, Selim MA, Abo Elqasem AA, Rushdi A, Ali M, Abo-Elkheir
            OI, Sanad EF and Hamdy NM.
  TITLE     Cytotoxic T Cell Expression of Leukocyte-Associated
            Immunoglobulin-Like Receptor-1 (LAIR-1) in Viral Hepatitis
            C-Mediated Hepatocellular Carcinoma
  JOURNAL   Int J Mol Sci 23 (20), 12541 (2022)
   PUBMED   36293412
  REMARK    GeneRIF: Cytotoxic T Cell Expression of Leukocyte-Associated
            Immunoglobulin-Like Receptor-1 (LAIR-1) in Viral Hepatitis
            C-Mediated Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 269)
  AUTHORS   Xu K, Wang Y, Shen CH, Chen Y, Zhang B, Liu K, Tsybovsky Y, Wang S,
            Farney SK, Gorman J, Stephens T, Verardi R, Yang Y, Zhou T, Chuang
            GY, Lanzavecchia A, Piccoli L and Kwong PD.
  TITLE     Structural basis of LAIR1 targeting by polymorphic Plasmodium
            RIFINs
  JOURNAL   Nat Commun 12 (1), 4226 (2021)
   PUBMED   34244481
  REMARK    GeneRIF: Structural basis of LAIR1 targeting by polymorphic
            Plasmodium RIFINs.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 269)
  AUTHORS   Peng DH, Rodriguez BL, Diao L, Chen L, Wang J, Byers LA, Wei Y,
            Chapman HA, Yamauchi M, Behrens C, Raso G, Soto LMS, Cuentes ERP,
            Wistuba II, Kurie JM and Gibbons DL.
  TITLE     Collagen promotes anti-PD-1/PD-L1 resistance in cancer through
            LAIR1-dependent CD8+ T cell exhaustion
  JOURNAL   Nat Commun 11 (1), 4520 (2020)
   PUBMED   32908154
  REMARK    GeneRIF: Collagen promotes anti-PD-1/PD-L1 resistance in cancer
            through LAIR1-dependent CD8(+) T cell exhaustion.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 269)
  AUTHORS   Carvalheiro T, Garcia S, Pascoal Ramos MI, Giovannone B, Radstake
            TRDJ, Marut W and Meyaard L.
  TITLE     Leukocyte Associated Immunoglobulin Like Receptor 1 Regulation and
            Function on Monocytes and Dendritic Cells During Inflammation
  JOURNAL   Front Immunol 11, 1793 (2020)
   PUBMED   32973751
  REMARK    GeneRIF: Leukocyte Associated Immunoglobulin Like Receptor 1
            Regulation and Function on Monocytes and Dendritic Cells During
            Inflammation.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 269)
  AUTHORS   Sinclair NR.
  TITLE     Why so many coinhibitory receptors?
  JOURNAL   Scand J Immunol 50 (1), 10-13 (1999)
   PUBMED   10404045
  REMARK    Review article
REFERENCE   7  (residues 1 to 269)
  AUTHORS   Meyaard L, Hurenkamp J, Clevers H, Lanier LL and Phillips JH.
  TITLE     Leukocyte-associated Ig-like receptor-1 functions as an inhibitory
            receptor on cytotoxic T cells
  JOURNAL   J Immunol 162 (10), 5800-5804 (1999)
   PUBMED   10229813
REFERENCE   8  (residues 1 to 269)
  AUTHORS   Meyaard L.
  TITLE     LAIR-1, a widely distributed human ITIM-bearing receptor on
            hematopoietic cells
  JOURNAL   Curr Top Microbiol Immunol 244, 151-157 (1999)
   PUBMED   10453657
  REMARK    Review article
REFERENCE   9  (residues 1 to 269)
  AUTHORS   Poggi A, Tomasello E, Ferrero E, Zocchi MR and Moretta L.
  TITLE     p40/LAIR-1 regulates the differentiation of peripheral blood
            precursors to dendritic cells induced by granulocyte-monocyte
            colony-stimulating factor
  JOURNAL   Eur J Immunol 28 (7), 2086-2091 (1998)
   PUBMED   9692876
REFERENCE   10 (residues 1 to 269)
  AUTHORS   Meyaard L, Adema GJ, Chang C, Woollatt E, Sutherland GR, Lanier LL
            and Phillips JH.
  TITLE     LAIR-1, a novel inhibitory receptor expressed on human mononuclear
            leukocytes
  JOURNAL   Immunity 7 (2), 283-290 (1997)
   PUBMED   9285412
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC245884.3, DA941174.1,
            AK303261.1 and DC390481.1.
            On Apr 17, 2014 this sequence version replaced NP_001275956.1.
            
            Summary: The protein encoded by this gene is an inhibitory receptor
            found on peripheral mononuclear cells, including natural killer
            cells, T cells, and B cells. Inhibitory receptors regulate the
            immune response to prevent lysis of cells recognized as self. The
            gene is a member of both the immunoglobulin superfamily and the
            leukocyte-associated inhibitory receptor family. The gene maps to a
            region of 19q13.4 called the leukocyte receptor cluster, which
            contains at least 29 genes encoding leukocyte-expressed receptors
            of the immunoglobulin superfamily. The encoded protein has been
            identified as an anchor for tyrosine phosphatase SHP-1, and may
            induce cell death in myeloid leukemias. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jan
            2014].
            
            Transcript Variant: This variant (g) differs in the 5' UTR, lacks
            part of the 5' coding region, and uses an alternate start codon,
            compared to variant a. The encoded isoform (g) has a shorter and
            distinct N-terminus, compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK097869.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..269
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..269
                     /product="leukocyte-associated immunoglobulin-like
                     receptor 1 isoform g"
                     /note="leukocyte-associated Ig-like receptor 1;
                     immunoglobulin heavy chain variable region"
                     /calculated_mol_wt=29559
     Region          11..102
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          27..31
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          39..43
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          66..70
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          80..85
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          95..98
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..269
                     /gene="LAIR1"
                     /gene_synonym="CD305; LAIR-1"
                     /coded_by="NM_001289027.3:282..1091"
                     /note="isoform g is encoded by transcript variant g"
                     /db_xref="CCDS:CCDS74450.1"
                     /db_xref="GeneID:3903"
                     /db_xref="HGNC:HGNC:6477"
                     /db_xref="MIM:602992"
ORIGIN      
        1 meremedlpr psisaepgtv iplgshvtfv crgpvgvqtf rlerdsrsty ndtedvsqas
       61 psesearfri dsvregnagl yrciyykppk wseqsdylel lvkessggpd spdtepgssa
      121 gptqrpsdns hnehapasqg lkaehlyili gvsvvflfcl lllvlfclhr qnqikqgppr
      181 skdeeqkpqq rpdlavdvle rtadkatvng lpekdretdt salaagssqe vtyaqldhwa
      241 ltqrtaravs pqstkpmaes ityaavarh
//
LOCUS       NP_001288060             105 aa            linear   PRI 14-MAR-2023
DEFINITION  DNA-directed RNA polymerases I, II, and III subunit RPABC2 isoform
            4 [Homo sapiens].
ACCESSION   NP_001288060
VERSION     NP_001288060.1
DBSOURCE    REFSEQ: accession NM_001301131.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 105)
  AUTHORS   Okuda M, Suwa T, Suzuki H, Yamaguchi Y and Nishimura Y.
  TITLE     Three human RNA polymerases interact with TFIIH via a common RPB6
            subunit
  JOURNAL   Nucleic Acids Res 50 (1), 1-16 (2022)
   PUBMED   34268577
  REMARK    GeneRIF: Three human RNA polymerases interact with TFIIH via a
            common RPB6 subunit.
REFERENCE   2  (residues 1 to 105)
  AUTHORS   Wani S, Hirose Y and Ohkuma Y.
  TITLE     Human RNA polymerase II-associated protein 2 (RPAP2) interacts
            directly with the RNA polymerase II subunit Rpb6 and participates
            in pre-mRNA 3&apos;-end formation
  JOURNAL   Drug Discov Ther 8 (6), 255-261 (2014)
   PUBMED   25639305
  REMARK    GeneRIF: These results suggest that RPAP2 controls Pol II activity
            through a direct interaction with Rpb6
REFERENCE   3  (residues 1 to 105)
  AUTHORS   Pusch C, Wang Z, Roe B and Blin N.
  TITLE     Genomic structure of the RNA polymerase II small subunit (hRPB14.4)
            locus (POLRF) and mapping to 22q13.1 by sequence identity
  JOURNAL   Genomics 34 (3), 440-442 (1996)
   PUBMED   8786150
REFERENCE   4  (residues 1 to 105)
  AUTHORS   Acker J, Wintzerith M, Vigneron M and Kedinger C.
  TITLE     A 14.4 KDa acidic subunit of human RNA polymerase II with a
            putative leucine-zipper
  JOURNAL   DNA Seq 4 (5), 329-331 (1994)
   PUBMED   7803819
REFERENCE   5  (residues 1 to 105)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   6  (residues 1 to 105)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301612
REFERENCE   7  (residues 1 to 105)
  AUTHORS   Kato H, Sumimoto H, Pognonec P, Chen CH, Rosen CA and Roeder RG.
  TITLE     HIV-1 Tat acts as a processivity factor in vitro in conjunction
            with cellular elongation factors
  JOURNAL   Genes Dev 6 (4), 655-666 (1992)
   PUBMED   1559613
REFERENCE   8  (residues 1 to 105)
  AUTHORS   Jacob GA, Luse SW and Luse DS.
  TITLE     Abortive initiation is increased only for the weakest members of a
            set of down mutants of the adenovirus 2 major late promoter
  JOURNAL   J Biol Chem 266 (33), 22537-22544 (1991)
   PUBMED   1939271
REFERENCE   9  (residues 1 to 105)
  AUTHORS   Southgate C, Zapp ML and Green MR.
  TITLE     Activation of transcription by HIV-1 Tat protein tethered to
            nascent RNA through another protein
  JOURNAL   Nature 345 (6276), 640-642 (1990)
   PUBMED   2190099
REFERENCE   10 (residues 1 to 105)
  AUTHORS   Conaway RC and Conaway JW.
  TITLE     ATP activates transcription initiation from promoters by RNA
            polymerase II in a reversible step prior to RNA synthesis
  JOURNAL   J Biol Chem 263 (6), 2962-2968 (1988)
   PUBMED   2449431
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DN989996.1 and AK026327.1.
            
            Summary: This gene encodes the sixth largest subunit of RNA
            polymerase II, the polymerase responsible for synthesizing
            messenger RNA in eukaryotes. In yeast, this polymerase subunit, in
            combination with at least two other subunits, forms a structure
            that stabilizes the transcribing polymerase on the DNA template.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (4) contains an alternate 3' exon
            structure, resulting in a different 3' coding region and 3' UTR,
            compared to variant 1. The encoded isoform (4) has a distinct
            C-terminus and is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1081828.1,
                                           SRR3476690.129483.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..105
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     Protein         1..105
                     /product="DNA-directed RNA polymerases I, II, and III
                     subunit RPABC2 isoform 4"
                     /EC_number="2.7.7.6"
                     /note="DNA-directed RNA polymerases I, II, and III subunit
                     RPABC2; RNA Polymerase II subunit 14.4 kD; DNA-directed
                     RNA polymerase II subunit F; RNA polymerases I, II, and
                     III subunit ABC2; DNA-directed RNA polymerases I, II, and
                     III 14.4 kDa polypeptide; polymerase (RNA) II (DNA
                     directed) polypeptide F; polymerase (RNA) II subunit F"
                     /calculated_mol_wt=11943
     Region          <26..102
                     /region_name="RNA_pol_Rpb6"
                     /note="RNA polymerase Rpb6; cl14651"
                     /db_xref="CDD:449344"
     CDS             1..105
                     /gene="POLR2F"
                     /gene_synonym="HRBP14.4; POLRF; RPABC14.4; RPABC2;
                     RPB14.4; RPB6; RPC15"
                     /coded_by="NM_001301131.2:90..407"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:5435"
                     /db_xref="HGNC:HGNC:9193"
                     /db_xref="MIM:604414"
ORIGIN      
        1 msdnednfdg ddfddveede glddlenaee egqenveilp sgerpqanqk rittpymtky
       61 erarvlgtra lqiamcapvm velegetdpl liamkelkrr rlree
//
LOCUS       NP_003962               1307 aa            linear   PRI 15-MAR-2023
DEFINITION  C-Jun-amino-terminal kinase-interacting protein 4 isoform 3 [Homo
            sapiens].
ACCESSION   NP_003962
VERSION     NP_003962.3
DBSOURCE    REFSEQ: accession NM_003971.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1307)
  AUTHORS   Bassey-Archibong BI, Rajendra Chokshi C, Aghaei N, Kieliszek AM,
            Tatari N, McKenna D, Singh M, Kalpana Subapanditha M, Parmar A,
            Mobilio D, Savage N, Lam F, Tokar T, Provias J, Lu Y, Chafe SC,
            Swanton C, Hynds RE, Venugopal C and Singh SK.
  TITLE     An HLA-G/SPAG9/STAT3 axis promotes brain metastases
  JOURNAL   Proc Natl Acad Sci U S A 120 (8), e2205247120 (2023)
   PUBMED   36780531
  REMARK    GeneRIF: An HLA-G/SPAG9/STAT3 axis promotes brain metastases.
REFERENCE   2  (residues 1 to 1307)
  AUTHORS   Ramadan RA, Morsy H, Samir M, Shamseya M, Shalaby M and El-Attar
            EA.
  TITLE     Significance of cancer testis-associated antigens (SPAG9 and
            FBXO39) in colon cancer
  JOURNAL   Indian J Cancer 59 (3), 394-401 (2022)
   PUBMED   34380828
  REMARK    GeneRIF: Significance of cancer testis-associated antigens (SPAG9
            and FBXO39) in colon cancer.
REFERENCE   3  (residues 1 to 1307)
  AUTHORS   Del Sarto J, Gerlt V, Friedrich ME, Anhlan D, Wixler V, Teixeira
            MM, Boergeling Y and Ludwig S.
  TITLE     Phosphorylation of JIP4 at S730 Presents Antiviral Properties
            against Influenza A Virus Infection
  JOURNAL   J Virol 95 (20), e0067221 (2021)
   PUBMED   34319782
  REMARK    GeneRIF: Phosphorylation of JIP4 at S730 Presents Antiviral
            Properties against Influenza A Virus Infection.
REFERENCE   4  (residues 1 to 1307)
  AUTHORS   Gowrishankar S, Lyons L, Rafiq NM, Roczniak-Ferguson A, De Camilli
            P and Ferguson SM.
  TITLE     Overlapping roles of JIP3 and JIP4 in promoting axonal transport of
            lysosomes in human iPSC-derived neurons
  JOURNAL   Mol Biol Cell 32 (11), 1094-1103 (2021)
   PUBMED   33788575
  REMARK    GeneRIF: Overlapping roles of JIP3 and JIP4 in promoting axonal
            transport of lysosomes in human iPSC-derived neurons.
REFERENCE   5  (residues 1 to 1307)
  AUTHORS   Li W, Wang F, Shi J, Feng Q, Chen Y, Qi X, Wang C, Lu H, Lu Z, Jia
            X, Yan Q, Gao SJ and Lu C.
  TITLE     Sperm associated antigen 9 promotes oncogenic KSHV-encoded
            interferon regulatory factor-induced cellular transformation and
            angiogenesis by activating the JNK/VEGFA pathway
  JOURNAL   PLoS Pathog 16 (8), e1008730 (2020)
   PUBMED   32776977
  REMARK    GeneRIF: Sperm associated antigen 9 promotes oncogenic KSHV-encoded
            interferon regulatory factor-induced cellular transformation and
            angiogenesis by activating the JNK/VEGFA pathway.
            Erratum:[PLoS Pathog. 2022 Jan 7;18(1):e1010232. PMID: 34995339]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1307)
  AUTHORS   Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G,
            Croughton K, Cruciat C, Eberhard D, Gagneur J, Ghidelli S, Hopf C,
            Huhse B, Mangano R, Michon AM, Schirle M, Schlegl J, Schwab M,
            Stein MA, Bauer A, Casari G, Drewes G, Gavin AC, Jackson DB,
            Joberty G, Neubauer G, Rick J, Kuster B and Superti-Furga G.
  TITLE     A physical and functional map of the human TNF-alpha/NF-kappa B
            signal transduction pathway
  JOURNAL   Nat Cell Biol 6 (2), 97-105 (2004)
   PUBMED   14743216
  REMARK    Erratum:[Nat Cell Biol. 2004 May;6(5):465]
REFERENCE   7  (residues 1 to 1307)
  AUTHORS   Yasuoka H, Ihn H, Medsger TA Jr, Hirakata M, Kawakami Y, Ikeda Y
            and Kuwana M.
  TITLE     A novel protein highly expressed in testis is overexpressed in
            systemic sclerosis fibroblasts and targeted by autoantibodies
  JOURNAL   J Immunol 171 (12), 6883-6890 (2003)
   PUBMED   14662895
  REMARK    GeneRIF: Testicular antigen PHET is an auutoantigen recognized by
            sera from systemic sclerosis (SSc) patients with extensive fibrotic
            changes; the autoantibody response to PHET is induced by ectopic
            overexpression of PHET in dermal fibroblasts of SSc patients.
REFERENCE   8  (residues 1 to 1307)
  AUTHORS   Lee CM, Onesime D, Reddy CD, Dhanasekaran N and Reddy EP.
  TITLE     JLP: A scaffolding protein that tethers JNK/p38MAPK signaling
            modules and transcription factors
  JOURNAL   Proc Natl Acad Sci U S A 99 (22), 14189-14194 (2002)
   PUBMED   12391307
REFERENCE   9  (residues 1 to 1307)
  AUTHORS   Ichijo H.
  TITLE     From receptors to stress-activated MAP kinases
  JOURNAL   Oncogene 18 (45), 6087-6093 (1999)
   PUBMED   10557099
  REMARK    Review article
REFERENCE   10 (residues 1 to 1307)
  AUTHORS   Shankar S, Mohapatra B and Suri A.
  TITLE     Cloning of a novel human testis mRNA specifically expressed in
            testicular haploid germ cells, having unique palindromic sequences
            and encoding a leucine zipper dimerization motif
  JOURNAL   Biochem Biophys Res Commun 243 (2), 561-565 (1998)
   PUBMED   9480848
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005839.1, AK091921.1,
            AY850123.1 and AC005920.1.
            On Dec 31, 2002 this sequence version replaced NP_003962.2.
            
            Summary: This gene encodes a member of the cancer testis antigen
            gene family. The encoded protein functions as a scaffold protein
            that structurally organizes mitogen-activated protein kinases and
            mediates c-Jun-terminal kinase signaling. This protein also binds
            to kinesin-1 and may be involved in microtubule-based membrane
            transport. This protein may play a role in tumor growth and
            development. Alternate splicing results in multiple transcript
            variants. [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (3) lacks an in-frame coding exon
            in the coding region, compared to variant 1. The resulting isoform
            (3) is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY850123.1, SRR9304718.211368.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1307
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     Protein         1..1307
                     /product="C-Jun-amino-terminal kinase-interacting protein
                     4 isoform 3"
                     /note="sperm surface protein; cancer/testis antigen 89;
                     JNK/SAPK-associated protein; JNK interacting protein;
                     c-Jun NH2-terminal kinase-associated leucine zipper
                     protein; Max-binding protein; C-Jun-amino-terminal
                     kinase-interacting protein 4; proliferation-inducing gene
                     6; lung cancer oncogene 4; sunday driver 1; protein highly
                     expressed in testis; human lung cancer oncogene 6 protein;
                     mitogen-activated protein kinase 8-interacting protein 4"
                     /calculated_mol_wt=144551
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Region          24..178
                     /region_name="Jnk-SapK_ap_N"
                     /note="JNK_SAPK-associated protein-1; pfam09744"
                     /db_xref="CDD:430795"
     Site            order(27,34..35,37,46..47,50,53..54,56..58,60..61,63..65,
                     67,75,78,81..82,85,90,92..93,96)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:271220"
     Site            109
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            183
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            185
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            194
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            203
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Site            217
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            238
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            251
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Site            254
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            258
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            278
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q58A65; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            297
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            315
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Site            318
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Site            333
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            334
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            351
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q58A65; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Region          392..>447
                     /region_name="JIP_LZII"
                     /note="JNK-interacting protein leucine zipper II;
                     pfam16471"
                     /db_xref="CDD:435358"
     Site            404
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Region          <435..>628
                     /region_name="DUF5401"
                     /note="Family of unknown function (DUF5401); pfam17380"
                     /db_xref="CDD:375164"
     Region          459..486
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Region          549..586
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Site            572
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            574
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            581
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            691
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            714
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            716
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            718
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            719
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Region          840..892
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Region          938..>1292
                     /region_name="WD40_2"
                     /note="WD40 repeated domain; pfam19056"
                     /db_xref="CDD:436927"
     Site            1174
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Region          1225..1252
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Site            1250
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     CDS             1..1307
                     /gene="SPAG9"
                     /gene_synonym="CT89; HLC-6; HLC4; HLC6; JIP-4; JIP4; JLP;
                     PHET; PIG6"
                     /coded_by="NM_003971.6:213..4136"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS11577.1"
                     /db_xref="GeneID:9043"
                     /db_xref="HGNC:HGNC:14524"
                     /db_xref="MIM:605430"
ORIGIN      
        1 meledgvvyq eepggsgavm servsglags iyreferlig rydeevvkel mplvvavlen
       61 ldsvfaqdqe hqvelellrd dneqlitqye rekalrkhae ekfiefedsq eqekkdlqtr
      121 veslesqtrq lelkaknyad qisrleerea elkkeynalh qrhtemihny mehlertklh
      181 qlsgsdqles tahsrirker pislgifplp agdglltpda qkggetpgse qwkfqelsqp
      241 rshtslkdel sdvsqggska ttpastansd vatiptdtpl keenegfvkv tdapnkseis
      301 khievqvaqe trnvstgsae neeksevqai iestpeldmd kdlsgykgss tptkgienka
      361 fdrnteslfe elssagsgli gdvdegadll gmgrevenli lentqlletk nalnivkndl
      421 iakvdeltce kdvlqgelea vkqaklklee knreleeelr karaeaedar qkakddddsd
      481 iptaqrkrft rvemarvlme rnqykerlme lqeavrwtem irasrenpam qekkrssiwq
      541 ffsrlfssss nttkkpeppv nlkynaptsh vtpsvkkrss tlsqlpgdks kafdflseet
      601 easlasrreq kreqyrqvka hvqkedgrvq afgwslpqky kqvtngqgen kmknlpvpvy
      661 lrpldekdts mklwcavgvn lsggktrdgg svvgasvfyk dvagldtegs kqrsasqssl
      721 dkldqelkeq qkelknqeel sslvwictst hsatkvliid avqpgnilds ftvcnshvlc
      781 iasvpgaret dypagedlse sgqvdkaslc gsmtsnssae tdsllggitv vgcsaegvtg
      841 aatspstnga spvmdkppem eaensevden vptaeeatea tegnagsaed tvdisqtgvy
      901 tehvftdplg vqipedlspv yqssndsday kdqisvlpne qdlvreeaqk mssllptmwl
      961 gaqngclyvh ssvaqwrkcl hsiklkdsil sivhvkgivl valadgtlai fhrgvdgqwd
     1021 lsnyhlldlg rphhsircmt vvhdkvwcgy rnkiyvvqpk amkieksfda hprkesqvrq
     1081 lawvgdgvwv sirldstlrl yhahtyqhlq dvdiepyvsk mlgtgklgfs fvritalmvs
     1141 cnrlwvgtgn gviisiplte tnktsgvpgn rpgsvirvyg densdkvtpg tfipycsmah
     1201 aqlcfhghrd avkffvavpg qvispqssss gtdltgdkag psaqepgsqt plksmlvisg
     1261 gegyidfrmg deggesellg edlplepsvt kaershlivw qvmygne
//
LOCUS       NP_001358007             472 aa            linear   PRI 17-MAR-2023
DEFINITION  platelet glycoprotein 4 isoform 1 [Homo sapiens].
ACCESSION   NP_001358007
VERSION     NP_001358007.1
DBSOURCE    REFSEQ: accession NM_001371078.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 472)
  AUTHORS   Bobinski R, Dutka M, Pizon M, Waksmanska W and Pielesz A.
  TITLE     Ferroptosis, Acyl Starvation, and Breast Cancer
  JOURNAL   Mol Pharmacol 103 (3), 132-144 (2023)
   PUBMED   36750321
  REMARK    GeneRIF: Ferroptosis, Acyl Starvation, and Breast Cancer.
            Review article
REFERENCE   2  (residues 1 to 472)
  AUTHORS   Gadagkar SG, Lalancette-Hebert M, Thammisetty SS, Vexler ZS and
            Kriz J.
  TITLE     CD36 neutralisation blunts TLR2-IRF7 but not IRF3 pathway in
            neonatal mouse brain and immature human microglia following innate
            immune challenge
  JOURNAL   Sci Rep 13 (1), 2304 (2023)
   PUBMED   36759676
  REMARK    GeneRIF: CD36 neutralisation blunts TLR2-IRF7 but not IRF3 pathway
            in neonatal mouse brain and immature human microglia following
            innate immune challenge.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 472)
  AUTHORS   Liao M, Li Y, Xiao A, Lu Q, Zeng H, Qin H, Zheng E, Luo X, Chen L,
            Ruan XZ, Yang P and Chen Y.
  TITLE     HIF-2alpha-induced upregulation of CD36 promotes the development of
            ccRCC
  JOURNAL   Exp Cell Res 421 (2), 113389 (2022)
   PUBMED   36252650
  REMARK    GeneRIF: HIF-2alpha-induced upregulation of CD36 promotes the
            development of ccRCC.
REFERENCE   4  (residues 1 to 472)
  AUTHORS   Liao X, Yan S, Li J, Jiang C, Huang S, Liu S, Zou X, Zhang G, Zou J
            and Liu Q.
  TITLE     CD36 and Its Role in Regulating the Tumor Microenvironment
  JOURNAL   Curr Oncol 29 (11), 8133-8145 (2022)
   PUBMED   36354702
  REMARK    GeneRIF: CD36 and Its Role in Regulating the Tumor
            Microenvironment.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 472)
  AUTHORS   Jabbari K, Cheng Q, Winkelmaier G, Furuta S and Parvin B.
  TITLE     CD36+ Fibroblasts Secrete Protein Ligands That Growth-Suppress
            Triple-Negative Breast Cancer Cells While Elevating Adipogenic
            Markers for a Model of Cancer-Associated Fibroblast
  JOURNAL   Int J Mol Sci 23 (21), 12744 (2022)
   PUBMED   36361532
  REMARK    GeneRIF: CD36(+) Fibroblasts Secrete Protein Ligands That
            Growth-Suppress Triple-Negative Breast Cancer Cells While Elevating
            Adipogenic Markers for a Model of Cancer-Associated Fibroblast.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 472)
  AUTHORS   Griffin E, Re A, Hamel N, Fu C, Bush H, McCaffrey T and Asch AS.
  TITLE     A link between diabetes and atherosclerosis: Glucose regulates
            expression of CD36 at the level of translation
  JOURNAL   Nat Med 7 (7), 840-846 (2001)
   PUBMED   11433350
REFERENCE   7  (residues 1 to 472)
  AUTHORS   Siddiqui FA and Lian EC.
  TITLE     Platelet-agglutinating protein p37 from a thrombotic
            thrombocytopenic purpura plasma forms complexes with platelet
            membrane glycoprotein IV (CD36)
  JOURNAL   Biochem Int 27 (3), 485-496 (1992)
   PUBMED   1384492
REFERENCE   8  (residues 1 to 472)
  AUTHORS   Huang MM, Bolen JB, Barnwell JW, Shattil SJ and Brugge JS.
  TITLE     Membrane glycoprotein IV (CD36) is physically associated with the
            Fyn, Lyn, and Yes protein-tyrosine kinases in human platelets
  JOURNAL   Proc Natl Acad Sci U S A 88 (17), 7844-7848 (1991)
   PUBMED   1715582
REFERENCE   9  (residues 1 to 472)
  AUTHORS   Tandon NN, Kralisz U and Jamieson GA.
  TITLE     Identification of glycoprotein IV (CD36) as a primary receptor for
            platelet-collagen adhesion
  JOURNAL   J Biol Chem 264 (13), 7576-7583 (1989)
   PUBMED   2468670
REFERENCE   10 (residues 1 to 472)
  AUTHORS   Tandon NN, Lipsky RH, Burgess WH and Jamieson GA.
  TITLE     Isolation and characterization of platelet glycoprotein IV (CD36)
  JOURNAL   J Biol Chem 264 (13), 7570-7575 (1989)
   PUBMED   2468669
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124834.1 and AC073850.4.
            
            Summary: The protein encoded by this gene is the fourth major
            glycoprotein of the platelet surface and serves as a receptor for
            thrombospondin in platelets and various cell lines. Since
            thrombospondins are widely distributed proteins involved in a
            variety of adhesive processes, this protein may have important
            functions as a cell adhesion molecule. It binds to collagen,
            thrombospondin, anionic phospholipids and oxidized LDL. It directly
            mediates cytoadherence of Plasmodium falciparum parasitized
            erythrocytes and it binds long chain fatty acids and may function
            in the transport and/or as a regulator of fatty acid transport.
            Mutations in this gene cause platelet glycoprotein deficiency.
            Multiple alternatively spliced transcript variants have been found
            for this gene. [provided by RefSeq, Feb 2014].
            
            Transcript Variant: This variant (13), as well as variants 1-5 and
            10-12, encodes isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1549789.1,
                                           SRR14038195.1560304.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..472
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.11"
     Protein         1..472
                     /product="platelet glycoprotein 4 isoform 1"
                     /note="cluster determinant 36; fatty acid translocase;
                     CD36 molecule (thrombospondin receptor); scavenger
                     receptor class B, member 3; CD36 antigen (collagen type I
                     receptor, thrombospondin receptor); glycoprotein IIIb;
                     platelet glycoprotein IV; leukocyte differentiation
                     antigen CD36; PAS-4 protein; platelet glycoprotein 4;
                     GPIIIB; PAS IV"
                     /calculated_mol_wt=52922
     Site            8..29
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P16671.2)"
     Region          14..463
                     /region_name="CD36"
                     /note="CD36 family; pfam01130"
                     /db_xref="CDD:426068"
     Site            79
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P16671.2)"
     Region          93..120
                     /region_name="Required for interaction with
                     thrombospondins, THBS1 and THBS2.
                     /evidence=ECO:0000269|PubMed:1371676"
                     /note="propagated from UniProtKB/Swiss-Prot (P16671.2)"
     Site            102
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P16671.2)"
     Site            134
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P16671.2)"
     Site            163
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P16671.2)"
     Site            205
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P16671.2)"
     Site            220
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P16671.2)"
     Site            235
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P16671.2)"
     Site            247
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P16671.2)"
     Site            321
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:18780401; propagated from
                     UniProtKB/Swiss-Prot (P16671.2)"
     Site            417
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16263699,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P16671.2)"
     Site            440..461
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P16671.2)"
     Region          460..472
                     /region_name="Interaction with PTK2, PXN and LYN.
                     /evidence=ECO:0000269|PubMed:20037584"
                     /note="propagated from UniProtKB/Swiss-Prot (P16671.2)"
     Site            463
                     /site_type="other"
                     /note="Critical for TLR4-TLR6 dimerization and signaling.
                     /evidence=ECO:0000269|PubMed:20037584; propagated from
                     UniProtKB/Swiss-Prot (P16671.2)"
     CDS             1..472
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV;
                     PASIV; SCARB3"
                     /coded_by="NM_001371078.1:283..1701"
                     /note="isoform 1 is encoded by transcript variant 13"
                     /db_xref="CCDS:CCDS34673.1"
                     /db_xref="GeneID:948"
                     /db_xref="HGNC:HGNC:1663"
                     /db_xref="MIM:173510"
ORIGIN      
        1 mgcdrncgli agavigavla vfggilmpvg dlliqktikk qvvleegtia fknwvktgte
       61 vyrqfwifdv qnpqevmmns sniqvkqrgp ytyrvrflak envtqdaedn tvsflqpnga
      121 ifepslsvgt eadnftvlnl avaaashiyq nqfvqmilns linkskssmf qvrtlrellw
      181 gyrdpflslv pypvtttvgl fypynntadg vykvfngkdn iskvaiidty kgkrnlsywe
      241 shcdmingtd aasfppfvek sqvlqffssd icrsiyavfe sdvnlkgipv yrfvlpskaf
      301 aspvenpdny cfctekiisk nctsygvldi skckegrpvy islphflyas pdvsepidgl
      361 npneeehrty ldiepitgft lqfakrlqvn llvkpsekiq vlknlkrnyi vpilwlnetg
      421 tigdekanmf rsqvtgkinl lgliemills vgvvmfvafm isycacrskt ik
//
LOCUS       NP_001028777             882 aa            linear   PRI 19-MAR-2023
DEFINITION  protein PTHB1 isoform 4 [Homo sapiens].
ACCESSION   NP_001028777
VERSION     NP_001028777.1
DBSOURCE    REFSEQ: accession NM_001033605.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 882)
  AUTHORS   Zhang Y, Xu M, Zhang M, Yang G and Li X.
  TITLE     A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a
            Chinese Family with Bardet-Biedl Syndrome
  JOURNAL   Biomed Res Int 2021, 4514967 (2021)
   PUBMED   34692830
  REMARK    GeneRIF: A Novel BBS9 Mutation Identified via Whole-Exome
            Sequencing in a Chinese Family with Bardet-Biedl Syndrome.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 882)
  AUTHORS   Jeziorny K, Antosik K, Jakiel P, Mlynarski W, Borowiec M and
            Zmyslowska A.
  TITLE     Next-Generation Sequencing in the Diagnosis of Patients with
            Bardet-Biedl Syndrome-New Variants and Relationship with
            Hyperglycemia and Insulin Resistance
  JOURNAL   Genes (Basel) 11 (11), 1283 (2020)
   PUBMED   33138063
  REMARK    GeneRIF: Next-Generation Sequencing in the Diagnosis of Patients
            with Bardet-Biedl Syndrome-New Variants and Relationship with
            Hyperglycemia and Insulin Resistance.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 882)
  AUTHORS   Ludlam WG, Aoba T, Cuellar J, Bueno-Carrasco MT, Makaju A, Moody
            JD, Franklin S, Valpuesta JM and Willardson BM.
  TITLE     Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9
            subcomplex
  JOURNAL   J Biol Chem 294 (44), 16385-16399 (2019)
   PUBMED   31530639
  REMARK    GeneRIF: Authors found that within this structure, BBS2 and BBS7
            form a tight dimer through a coiled-coil interaction and that BBS9
            associates with the dimer via an interaction with the alpha-helical
            domain of BBS2. Interestingly, a BBS-associated mutation of BBS2 is
            located in its alpha-helical domain at the interface between BBS2
            and BBS9, and binding experiments indicated that this mutation
            disrupts the BBS2-BBS9 interaction.
REFERENCE   4  (residues 1 to 882)
  AUTHORS   Muzammal M, Zubair M, Bierbaumer S, Blatterer J, Graf R, Gul A,
            Abbas S, Badar M, Abbasi AA, Khan MA and Windpassinger C.
  TITLE     Exome sequence analysis in consanguineous Pakistani families
            inheriting Bardet-Biedle syndrome determined founder effect of
            mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene
  JOURNAL   Mol Genet Genomic Med 7 (8), e834 (2019)
   PUBMED   31294530
  REMARK    GeneRIF: Study of two apparently unrelated consanguineous
            Bardet-Biedle syndrome families from Dera Ismail Khan (D.I.Khan)
            district, Pakistan identified a recently reported single base
            deletion NM_001033604.1:c.299delC in the fourth exon of BBS9 in
            both families and speculate the evolutionary significance of this
            mutation and assume its strong founder effect in the Khaisoori
            tribe of D.I.Khan.
REFERENCE   5  (residues 1 to 882)
  AUTHORS   Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A,
            Slusarski DC, Scheller RH, Bazan JF, Sheffield VC and Jackson PK.
  TITLE     A core complex of BBS proteins cooperates with the GTPase Rab8 to
            promote ciliary membrane biogenesis
  JOURNAL   Cell 129 (6), 1201-1213 (2007)
   PUBMED   17574030
REFERENCE   6  (residues 1 to 882)
  AUTHORS   Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL,
            Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM and
            Sheffield VC.
  TITLE     Comparative genomics and gene expression analysis identifies BBS9,
            a new Bardet-Biedl syndrome gene
  JOURNAL   Am J Hum Genet 77 (6), 1021-1033 (2005)
   PUBMED   16380913
  REMARK    GeneRIF: Comparative genomics and gene expression analysis
            identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene.
REFERENCE   7  (residues 1 to 882)
  AUTHORS   Vernon EG, Malik K, Reynolds P, Powlesland R, Dallosso AR, Jackson
            S, Henthorn K, Green ED and Brown KW.
  TITLE     The parathyroid hormone-responsive B1 gene is interrupted by a
            t(1;7)(q42;p15) breakpoint associated with Wilms' tumour
  JOURNAL   Oncogene 22 (9), 1371-1380 (2003)
   PUBMED   12618763
  REMARK    GeneRIF: gene is interrupted by a t(1;7)(q42;p15) breakpoint
            associated with Wilms' tumour; new alternately spliced isoforms
            were found in a wide range of adult and foetal tissues
REFERENCE   8  (residues 1 to 882)
  AUTHORS   Adams AE, Rosenblatt M and Suva LJ.
  TITLE     Identification of a novel parathyroid hormone-responsive gene in
            human osteoblastic cells
  JOURNAL   Bone 24 (4), 305-313 (1999)
   PUBMED   10221542
REFERENCE   9  (residues 1 to 882)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (residues 1 to 882)
  AUTHORS   Forsyth,R. and Gunay-Aygun,M.
  TITLE     Bardet-Biedl Syndrome Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301537
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL704922.1, BC103831.2,
            BI254810.1, U85994.1 and AC078833.5.
            
            Summary: This gene is downregulated by parathyroid hormone in
            osteoblastic cells, and therefore is thought to be involved in
            parathyroid hormone action in bones. The exact function of this
            gene has not yet been determined. Alternatively spliced transcript
            variants encoding different isoforms have been identified.
            [provided by RefSeq, Jan 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.3979662.1,
                                           SRR14038196.3626787.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..882
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     Protein         1..882
                     /product="protein PTHB1 isoform 4"
                     /note="protein PTHB1; PTH-responsive osteosarcoma B1
                     protein; bardet-Biedl syndrome 9 protein; parathyroid
                     hormone-responsive B1 gene protein"
                     /calculated_mol_wt=98552
     Region          1..418
                     /region_name="PHTB1_N"
                     /note="PTHB1 N-terminus; pfam14727"
                     /db_xref="CDD:434162"
     Region          1..407
                     /region_name="Seven-bladed beta-propeller.
                     /evidence=ECO:0000269|PubMed:26085087"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SYG4.1)"
     Site            141
                     /site_type="other"
                     /note="Critical for protein stability.
                     /evidence=ECO:0000269|PubMed:26085087; propagated from
                     UniProtKB/Swiss-Prot (Q3SYG4.1)"
     Region          441..814
                     /region_name="PHTB1_C"
                     /note="PTHB1 C-terminus; pfam14728"
                     /db_xref="CDD:434163"
     Region          680..760
                     /region_name="Interaction with LZTL1.
                     /evidence=ECO:0000269|PubMed:22072986"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SYG4.1)"
     Region          845..882
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SYG4.1)"
     CDS             1..882
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /coded_by="NM_001033605.2:490..3138"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS34618.1"
                     /db_xref="GeneID:27241"
                     /db_xref="HGNC:HGNC:30000"
                     /db_xref="MIM:607968"
ORIGIN      
        1 mslfkardww stilgdkeef dqgclclanv dnsgngqdki ivgsfmgylr ifsphpaktg
       61 dgaqaedlll evdlrdpvlq vevgkfvsgt emlhlavlhs rklcvysvsg tlgnvehgnq
      121 cqmklmyehn lqrtacnmty gsfggvkgrd liciqsmdgm lmvfeqesya fgrflpgfll
      181 pgplayssrt dsfltvsscq qvesykyqvl afatdadkrq eteqqklgsg krlvvdwtln
      241 igeqaldici vsfnqsassv fvlgernffc lkdngqirfm kkldwspscf lpycsvsegt
      301 intlignhnn mlhiyqdvtl kwatqlphip vavrvgclhd lkgvivtlsd dghlqcsylg
      361 tdpslfqapn vqsrelnyde ldvemkelqk iikdvnksqg vwpmteredd lnvsvvvspn
      421 fdsvsqatdv evgtdlvpsv tvkvtlqnrv ilqkaklsvy vqppleltcd qftfefmtpd
      481 ltrtvsfsvy lkrsytpsel egnavvsysr ptgiprviqc kfrlplklic lpgqpsktas
      541 hkitidtnks pvsllslfpg fasqsdddqv nvmgfhflgg aritvlaskt sqryriqseq
      601 fedlwlitne lilrlqeyfe kqgvkdfacs fsgsiplqey felidhhfel ringekleel
      661 lseravqfra iqrrllarfk dktpaplqhl dtlldgtykq vialadavee nqgnlfqsft
      721 rlksathlvi llialwqkls adqvaileaa flplqedtqe lgweetvdaa ishllktcls
      781 ksskeqalnl nsqlnipkdt sqlkkhitll cdrlskggrl clstdaaapq tmvmpggctt
      841 ipesdleers veqdstelft nhrhltaetp rpevsplqgv se
//
LOCUS       XP_011507756             208 aa            linear   PRI 20-MAR-2023
DEFINITION  hepatoma-derived growth factor isoform X1 [Homo sapiens].
ACCESSION   XP_011507756
VERSION     XP_011507756.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011509454.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..208
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..208
                     /product="hepatoma-derived growth factor isoform X1"
                     /calculated_mol_wt=22833
     Region          <1..64
                     /region_name="PWWP"
                     /note="PWWP (Pro-Trp-Trp-Pro) domain; cl02554"
                     /db_xref="CDD:445826"
     CDS             1..208
                     /gene="HDGF"
                     /gene_synonym="HMG1L2"
                     /coded_by="XM_011509454.3:937..1563"
                     /db_xref="GeneID:3068"
                     /db_xref="HGNC:HGNC:4856"
                     /db_xref="MIM:600339"
ORIGIN      
        1 mpeaavksta nkyqvfffgt hetaflgpkd lfpyeeskek fgkpnkrkgf seglweienn
       61 ptvkasgyqs sqkkscveep epepeaaegd gdkkgnaegs sdeegklvid epakeknekg
      121 alkrragdll edspkrpkea enpegeekea atleverplp meveknstps epgsgrgppq
      181 eeeeeedeee eatkedaeap girdhesl
//
LOCUS       XP_047289396            1208 aa            linear   PRI 20-MAR-2023
DEFINITION  period circadian protein homolog 3 isoform X4 [Homo sapiens].
ACCESSION   XP_047289396
VERSION     XP_047289396.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433440.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1208
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1208
                     /product="period circadian protein homolog 3 isoform X4"
                     /calculated_mol_wt=132330
     Region          284..376
                     /region_name="PAS"
                     /note="PAS domain; PAS motifs appear in archaea,
                     eubacteria and eukarya. Probably the most surprising
                     identification of a PAS domain was that in EAG-like
                     K+-channels. PAS domains have been found to bind ligands,
                     and to act as sensors for light and oxygen in...; cd00130"
                     /db_xref="CDD:238075"
     Site            order(287,291,297,310..313,342,347)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238075"
     Site            order(307,311,319,322..323,354,356)
                     /site_type="other"
                     /note="heme pocket [chemical binding]"
                     /db_xref="CDD:238075"
     Region          <755..1064
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          <1081..1183
                     /region_name="Period_C"
                     /note="Period protein 2/3C-terminal region; pfam12114"
                     /db_xref="CDD:432341"
     CDS             1..1208
                     /gene="PER3"
                     /gene_synonym="FASPS3; GIG13"
                     /coded_by="XM_047433440.1:588..4214"
                     /db_xref="GeneID:8863"
                     /db_xref="HGNC:HGNC:8847"
                     /db_xref="MIM:603427"
ORIGIN      
        1 mprgeapgpg rrgakdealg eesgerwspe fhlqrklads shseqqdrnr vseelimvvq
       61 emkkyfpser rnkpstldal nyalrcvhsv qanseffqil sqngapqadv smysleelat
      121 iasehtsknt dtfvavfsfl sgrlvhiseq aalilnrkkd vlasshfvdl lapqdmrvfy
      181 ahtaraqlpf wnnwtqraar yecapvkpff crirggedrk qekchspfri ipylihvhhp
      241 aqpelesepc cltvvekihs gyeapripvn krifttthtp gcvflevdek avpllgylpq
      301 dligtsilsy lhpedrslmv aihqkvlkya ghppfehspi rfctqngdyi ildsswssfv
      361 npwsrkisfi igrhkvrtsp lnedvfatki kkmndndkdi telqeqiykl llqpvhvsvs
      421 sgygslgssg sqeqlvsias sseasghrve etkaeqmtlq qvyasvnkik nlgqqlyies
      481 mtkssfkpvt gtrtepnggg esangggeck tftsfhqtlk nnsvytepce dlrndehsps
      541 yqqincidsv irylksynip alkrkcisct nttsssseed kqnhkaddvq alqaglqipa
      601 ipksemptng rsidtgggap qilstamlsl gsgisqcgys stivhvpppe tardatlfce
      661 pwtlnmqpap ltseefkhvg ltaavlsaht qkeeqnyvdk frekilsspy ssylqqesrs
      721 kakysyfqgd stskqtrsag crkgkhkrkk lpeppdssss ntgsgprrga hqnaqpccps
      781 aassphtssp tfppaamvps qapylvpafp lpaatspgre yaapgtapeg lhglplsegl
      841 qpypafpfpy ldtfmtvflp dppvcpllsp sflpcpflga tassaispsm ssamsptldp
      901 ppsvtsqrre eekweaqseg hpfitsrsss plqlnllqee mprpsespdq mrrntcpqte
      961 ycvtgnngse sspattgals tgspprenps hptasalstg sppmknpshp tasalstgsp
     1021 pmknpshpta stlsmglpps rtpshptatv lstgsppses psrtgsaasg ssdssiylts
     1081 svysskisqn gqqsqdvqkk etfpnvaeep iwrmirqtpe rilmtyqvpe rvkevvlked
     1141 leklesmrqq qpqfshgqke elakvynwiq sqtvtqeidi qacvtcened sadgaatscg
     1201 qvlvedsc
//
LOCUS       XP_011537542             459 aa            linear   PRI 20-MAR-2023
DEFINITION  BTB/POZ domain-containing protein 16 isoform X2 [Homo sapiens].
ACCESSION   XP_011537542
VERSION     XP_011537542.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011539240.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..459
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..459
                     /product="BTB/POZ domain-containing protein 16 isoform X2"
                     /calculated_mol_wt=52876
     Region          69..167
                     /region_name="BTB_POZ"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain superfamily; cl38908"
                     /db_xref="CDD:453885"
     Region          159..255
                     /region_name="BACK_BTBD16"
                     /note="BACK (BTB and C-terminal Kelch) domain found in
                     BTB/POZ domain-containing protein 16 (BTBD16); cd18492"
                     /db_xref="CDD:350567"
     CDS             1..459
                     /gene="BTBD16"
                     /gene_synonym="C10orf87"
                     /coded_by="XM_011539240.3:262..1641"
                     /db_xref="GeneID:118663"
                     /db_xref="HGNC:HGNC:26340"
ORIGIN      
        1 mimsntqhka rlerrvtgst nrwrlpkqpf sgdllslsqm ckalsidfee alrnpdrlci
       61 sqiqkfffen fknkdiqsge aaqspkktke kspakriiis lkindplvtk vafatalknl
      121 ymseveinle dllgvlasah ilqfsglfqr cvdvmiarlk pstikkfyea gckykeeqlt
      181 tgcekwlemn lvplggtqih lhkipqdllh kvlksprlft fsefhllktm llwvflqlny
      241 kiqaiptyet vmtffksfpe nccfldrdig rslrplflcl rlhgitkgkd levlrhlnff
      301 peswldqvtv nhyhalengg dmvhlkdlnt qavrfgllfn qenttyskti alygfffkik
      361 glkhdttsys fymqrikhtd lespsavyeh nhvslraarl vkyeiraeal vdgkwqefrt
      421 nqikqkfglt tssckshtlk iqtvgipiyv sfafifpas
//
LOCUS       XP_047281367             920 aa            linear   PRI 20-MAR-2023
DEFINITION  outer dynein arm-docking complex subunit 2 isoform X8 [Homo
            sapiens].
ACCESSION   XP_047281367
VERSION     XP_047281367.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425411.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..920
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..920
                     /product="outer dynein arm-docking complex subunit 2
                     isoform X8"
                     /calculated_mol_wt=101839
     Region          <325..560
                     /region_name="PLN03200"
                     /note="cellulose synthase-interactive protein;
                     Provisional"
                     /db_xref="CDD:215629"
     Region          330..355
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          365..397
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          404..440
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          447..493
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          <501..>738
                     /region_name="PLN03200"
                     /note="cellulose synthase-interactive protein;
                     Provisional"
                     /db_xref="CDD:215629"
     Region          503..535
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          541..578
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          586..617
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          625..661
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          706..743
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          718..823
                     /region_name="HEAT_2"
                     /note="HEAT repeats; pfam13646"
                     /db_xref="CDD:433376"
     Region          759..784
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Site            order(775,779,783,857,861,865,898,902,906)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          791..868
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          799..901
                     /region_name="HEAT_2"
                     /note="HEAT repeats; pfam13646"
                     /db_xref="CDD:433376"
     Region          802..830
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          874..907
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          <878..907
                     /region_name="Arm"
                     /note="Armadillo/beta-catenin-like repeat; pfam00514"
                     /db_xref="CDD:425727"
     CDS             1..920
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /coded_by="XM_047425411.1:348..3110"
                     /db_xref="GeneID:55130"
                     /db_xref="HGNC:HGNC:25583"
                     /db_xref="MIM:615408"
ORIGIN      
        1 mlsanrdpiv kilgsdyntm kensialnil gkitrdddpe seikmkiaml lkqldlhlln
       61 hslkhislei slspmtvkkd iellkrfsgk gnqtvlesie ytsdyefsng crappwrqir
      121 geicyvlvkp hdgetlcitc saggvflngg ktddegdvny erkgsiyknl vtflrekspk
      181 fsenmsklgi sfsedqqkek dqlgkapkke eaaalrkdis gsdkrslekn qinfwrnqmt
      241 krwepslnwk ttvnykgkgs akeiqedkht gklekprpsv shgraqllrk saekieetvs
      301 dssseseede eppdhrqeas adlpseywqi qklvkylkgg nqtatvialc smrdfslaqe
      361 tcqlairdvg glevlinlle tdevkckigs lkilkeishn pqirqnivdl gglpimvnil
      421 dsphkslkcl aaetianvak fkrarrvvrq hggitklval ldcahdstkp aqsslyeard
      481 vevarcgala lwscskshtn keairkaggi pllarllkts henmlipvvg tlqecaseen
      541 yraaikaeri ienlvknlns eneqlqehca maiyqcaedk etrdlvrlhg glkplaslln
      601 ntdnkerlaa vtgaiwkcsi skenvtkfre ykaietlvgl ltdqpeevlv nvvgalgecc
      661 qerenrvivr kcggiqplvn llvginqall vnvtkavgac avepesmmii drldgvrllw
      721 sllknphpdv kasaawalcp ciknakdage mvrsfvggle livnllksdn kevlasvcaa
      781 itniakdqen lavitdhgvv pllsklantn nnklrhhlae aisrccmwgr nrvafgehka
      841 vaplvrylks ndtnvhrata qalyqlseda dncitmheng avkllldmvg spdqdlqeaa
      901 agcisnirrl alatekaryt
//
LOCUS       XP_047281956            1764 aa            linear   PRI 20-MAR-2023
DEFINITION  disks large homolog 5 isoform X7 [Homo sapiens].
ACCESSION   XP_047281956
VERSION     XP_047281956.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426000.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1764
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1764
                     /product="disks large homolog 5 isoform X7"
                     /calculated_mol_wt=197220
     Region          <1..58
                     /region_name="Takusan"
                     /note="pfam04822"
                     /db_xref="CDD:428143"
     Region          <44..252
                     /region_name="PRK04778"
                     /note="septation ring formation regulator EzrA;
                     Provisional"
                     /db_xref="CDD:179877"
     Region          <183..481
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          465..552
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(479..482,484,536..537,540..541)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          567..635
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Region          719..>1148
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          1192..1274
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(1204..1207,1209,1255..1256,1259..1260)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1272..1344
                     /region_name="dbPDZ_assoc"
                     /note="Unstructured region between two PDZ domains on
                     Dlg5; pfam16610"
                     /db_xref="CDD:435460"
     Region          1344..1427
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(1357..1359,1361,1408,1410,1413..1414)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1442..1504
                     /region_name="SH3_DLG5"
                     /note="Src homology 3 domain of Disks Large homolog 5;
                     cd11860"
                     /db_xref="CDD:212794"
     Site            order(1444,1461..1462)
                     /site_type="other"
                     /note="GuK domain interface [polypeptide binding]"
                     /db_xref="CDD:212794"
     Site            order(1447,1449,1452,1456,1478..1479,1497,1499..1500)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212794"
     Region          1577..1753
                     /region_name="GuKc"
                     /note="Guanylate kinase homologues; smart00072"
                     /db_xref="CDD:214504"
     CDS             1..1764
                     /gene="DLG5"
                     /gene_synonym="LP-DLG; P-DLG5; PDLG"
                     /coded_by="XM_047426000.1:305..5599"
                     /db_xref="GeneID:9231"
                     /db_xref="HGNC:HGNC:2904"
                     /db_xref="MIM:604090"
ORIGIN      
        1 mtrernelrk rlafathgta fdkrpyhrln pdyerlkiqc vramsdlqsl qnqhtnalkr
       61 ceevaketdf yhtlhsrlls dqtrlkddvd mlrrengqll rernllqqsw edmkrlheed
      121 qkeigdlraq qqqvlkhngs seilnklydt amdklevvkk dydalrkrys ekvaihnadl
      181 srleqlgeen qrllkqteml tqqrdtaiql qhqcalslrr feaihhelnk ataqnkdlqw
      241 emellqselt elrttqvkta kesekyreer davyseykli mserdqvise ldklqtevel
      301 aesklkssts ekkaaneeme alrqikdtvt mdagrankev eilrkqckal cqelkealqe
      361 advakcrrdw afqerdkiva erdsirtlcd nlrrerdrav selaealrsl ddtrkqkndv
      421 srelkelkeq mesqlekear frqlmahssh dsaidtdsme wetevvefer etedidlkal
      481 gfdmaegvne pcfpgdcgif vtkvdkgsia dgrlrvndwl lrindvdlin kdkkqaikal
      541 lngegainmv vrrrkslggk vvtplhinls gqkdsgisle ngvyaaavlp gspaakegsl
      601 avgdrivain gialdnksln ecesllrscq dsltlsllkv fpqssswsgq nifenikdsd
      661 kmlsfrahgp evqahnkrnl iqhnnstqtd ifytdrledr kepgppggss sflhkpfpgg
      721 plqvcpqacp saserslssf rsdasgdrgf glvdvrgrrp llpfetevgp cgvgeasldk
      781 adsegsnsgg twpkamlsst avpeklsvyk kpkqrksifd pntfkrpqtp pkidyllpgp
      841 gpahspqpsk ragpltppkp prrsdsikfq hrletssese atlvgsspst sppsalppdv
      901 dpgepmhasp prkarvrias syypegdgds shlpakkscd edltsqkvde lgqkrrrpks
      961 apsfrpklap vvipaqflee qkcvpasgel spelqewapy spghssrhsn pplypsrpsv
     1021 gtvprsltps ttvssilrnp iytvrshrvg pcssppaard agpqglhpsv qhqgrlsldl
     1081 shrtcsdyse mrathgsnsl pssarlgsss nlqfkaerik ipstpryprs vvgsergsvs
     1141 hsecstppqs plnidtlssc sqsqtsastl priavnpasl gerrkdrpyv eeprhvkvqk
     1201 gseplgisiv sgekggiyvs kvtvgsiahq agleygdqll efnginlrsa teqqarliig
     1261 qqcdtitila qynphvhqls shsrssshld pagthstlqg sgtttpehps vidplmeqde
     1321 gpstppakqs ssriagdank ktleprvvfi kksqlelgvh lcggnlhgvf vaeveddspa
     1381 kgpdglvpgd lileygsldv rnktveevyv emlkprdgvr lkvqyrpeef tkakglpgds
     1441 fyiralydrl adveqelsfk kddilyvddt lpqgtfgswm awqldenaqk iqrgqipsky
     1501 vmdqefsrrl smsevkddns atktlsaaar rsffrrkhkh krsgskdgkd llaldafssd
     1561 siplfedsvs layqrvqkvd ctalrpvlil gplldvvkem lvneapgkfc rcplevmkas
     1621 qqaiergvkd clfvdykrrs ghfdvttvas ikeiteknrh clldiaphai erlhhmhiyp
     1681 ivifihyksa khikeqrdpi ylrdkvtqrh skeqfeaaqk leqeysryft gviqggalss
     1741 ictqilamvn qeqnkvlwip acpl
//
LOCUS       XP_024304176             684 aa            linear   PRI 20-MAR-2023
DEFINITION  formin-binding protein 4 isoform X3 [Homo sapiens].
ACCESSION   XP_024304176
VERSION     XP_024304176.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024448408.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..684
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..684
                     /product="formin-binding protein 4 isoform X3"
                     /calculated_mol_wt=74861
     Region          221..248
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Site            order(234,245)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          600..631
                     /region_name="WW"
                     /note="Two conserved tryptophans domain; also known as the
                     WWP or rsp5 domain; around 40 amino acids; functions as an
                     interaction module in a diverse set of signalling
                     proteins; binds specific proline-rich sequences but at low
                     affinities compared to other...; cd00201"
                     /db_xref="CDD:238122"
     Site            order(614,626)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     CDS             1..684
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /coded_by="XM_024448408.2:54..2108"
                     /db_xref="GeneID:23360"
                     /db_xref="HGNC:HGNC:19752"
                     /db_xref="MIM:615265"
ORIGIN      
        1 mgkksravpg rrpilqlspp gprgstpgrd pepepdtepd staavpsqpa psaattttta
       61 vtaaaasdds psegkdeqea vqevprvvqn ppkpvmttrp tavkatgglc llgayadsdd
      121 ddndvsekla qsketngnqs tdidstlanf laeidaitap qpaapvgasa ppptpprpep
      181 keaatstlss stsngtdstq tsgwqydtqc slagvgiemg dwqevwdent gcyyywntqt
      241 nevtwelpqy latqvqglqh yqpssvpgae tsfvvntdiy skektisvss sksgpviakr
      301 evkkevnegi qalsnseeek kgvaasllap llpegikeee erwrrkvick eepvsevket
      361 sttveeatti vkpqeimldn iedpsqedlc svvqsgesee eeeqdtlele lvlerkkael
      421 raleegdgsv sgssprsdis qpasqdgmrr lmskrgkwkm fvratspest srsssktgrd
      481 tpengetaig aensekiden sdkemevees pekikvqttp kveeeqdlkf qigelantlt
      541 skfeflginr qsisnfhvll lqtetriadw regalngnyl krklqdaaeq lkqyeinatp
      601 kgwschwdrd hrryfyvneq sgesqwefpd geeeeeesqa qenrdetlak qtlkdktgtd
      661 snstessets tavnelkrld rssg
//
LOCUS       XP_016872957            1502 aa            linear   PRI 20-MAR-2023
DEFINITION  EH domain-binding protein 1-like protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_016872957
VERSION     XP_016872957.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017468.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 5% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1502
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1502
                     /product="EH domain-binding protein 1-like protein 1
                     isoform X2"
                     /calculated_mol_wt=158661
     Region          <16..131
                     /region_name="NT-C2"
                     /note="N-terminal C2 in EEIG1 and EHBP1 proteins;
                     pfam10358"
                     /db_xref="CDD:431230"
     Region          152..>534
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          1017..1121
                     /region_name="CH_EHBP1L1"
                     /note="calponin homology (CH) domain found in EH
                     domain-binding protein 1-like protein 1 and similar
                     proteins; cd21255"
                     /db_xref="CDD:409104"
     Site            order(1018,1022,1072,1074..1075,1078..1079,1081,
                     1089..1097,1105,1107..1108,1110..1111,1114..1115,1118)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409104"
     Region          1342..1478
                     /region_name="DUF3585"
                     /note="Protein of unknown function (DUF3585); pfam12130"
                     /db_xref="CDD:432351"
     CDS             1..1502
                     /gene="EHBP1L1"
                     /coded_by="XM_017017468.2:451..4959"
                     /db_xref="GeneID:254102"
                     /db_xref="HGNC:HGNC:30682"
                     /db_xref="MIM:619583"
ORIGIN      
        1 mdpsepthll qggegwqlgi qahswqpgiq npyrgtvvwm vpenvdisvt lyrdphvdqy
       61 eakewtfiie neskgqrkvl ataevdlarh agpvpvqvpv rlrlkpksvk vvqaelsltl
      121 sgvllregra tdddmqslas lmsvkpsdvg nlddfaesde deahgpgape ararvpqpgr
      181 ggalrpgrfp dpsrelktlc eeeeegqgrp qqavaspsna edtspapvsa pappartsrg
      241 qgseraneag gqvgpeaprp petspemrss rqpaqdtapt paprlrkgsd alrppvpqge
      301 devpkasgap paglgsaret qaqacpqegt eahgarlgps iedkgsgdpf grqrlkaeem
      361 dtedrpeasg vdteprsggr eantkrsgvr ageaeessav cqvdaeqrsk vrhvdtkgpe
      421 atgvmpearc rgtpeapprg sqgrlgvrtr deapsglslp paepaghsgq lgdlegaraa
      481 agqeregaev rggapgiegt gleqgpsvga istrpqvssw qgallstaqg aisrglggwe
      541 aeaggsgdle tetevvglev lgtqekeveg sgfpetrtle ieilgaleke aarsrvlese
      601 vagtaqcegl etqetevgvi etpgtetevl gtqkteaggs gvlqtrttia etevlvtqei
      661 sgdlgplkie dtiqsemlgt qeteveasrv peseaegtea kilgtqeita rdsgvreiea
      721 eiaesdilva qeievgllgv lgietgaaeg ailgtqeias rdsgvpglea dttgiqvkev
      781 ggsevpeiat gtaeteilgt qeiasrssgv pglesevaga qetevggsgi sgpeagmaea
      841 rvlmtrktei ivpeaekeea qtsgvqeaet rvgsalkyea lrapvtqprv lgsqeakaei
      901 sgvqgsetqv lrvqeaeagv wgmsegksga wgaqeaemkv lespenksgt fkaqeaeagv
      961 lgnekgkeae gslteaslpe aqvasgagag aprasspeka eedrrlpgsq appalvsssq
     1021 sllewcqevt tgyrgvritn fttswrngla fcailhrfyp dkidyasldp lnikqnnkqa
     1081 fdgfaalgvs rllepadmvl lsvpdklivm tylcqirafc tgqelqlvql eggggagtyr
     1141 vgsaqpsppd dldagglaqr lrghgaegpq epkeaadrad gaapgvasrn avagraskdg
     1201 gaeapresrp aevpaeglvn gagapggggv rlrrpsvnge pgsvppprah gsfshvrdad
     1261 llkkrrsrlr nsssfsmddp dagamgaaaa egqapdpspa pgpptaadsq qppggsspse
     1321 epppspgeea glqrfqdtsq yvcaelqale qeqrqidgra aevemqlrsl mesganklqe
     1381 evliqewftl vnkknalirr qdqlqllmee qdlerrfell srelramlai edwqktsaqq
     1441 hreqllleel vslvnqrdel vrdldhkeri aleederler gleqrrrkls rqlsrrercv
     1501 ls
//
LOCUS       XP_011518702             518 aa            linear   PRI 20-MAR-2023
DEFINITION  fatty acyl-CoA reductase 1 isoform X1 [Homo sapiens].
ACCESSION   XP_011518702
VERSION     XP_011518702.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011520400.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..518
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..518
                     /product="fatty acyl-CoA reductase 1 isoform X1"
                     /calculated_mol_wt=59676
     Region          11..333
                     /region_name="FAR-N_SDR_e"
                     /note="fatty acyl CoA reductases (FARs), extended (e)
                     SDRs; cd05236"
                     /db_xref="CDD:187547"
     Site            order(17,19..22,44..46,111..113,130,151..153,204,208,
                     229..232)
                     /site_type="other"
                     /note="putative NAD(P) binding site [chemical binding]"
                     /db_xref="CDD:187547"
     Site            order(131,153,204,208)
                     /site_type="active"
                     /db_xref="CDD:187547"
     Site            order(153,204,231,243,259,265)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:187547"
     Region          360..450
                     /region_name="Sterile"
                     /note="Male sterility protein; pfam03015"
                     /db_xref="CDD:427101"
     CDS             1..518
                     /gene="FAR1"
                     /gene_synonym="CSPSD; MLSTD2; PFCRD; SDR10E1"
                     /coded_by="XM_011520400.3:147..1703"
                     /db_xref="GeneID:84188"
                     /db_xref="HGNC:HGNC:26222"
                     /db_xref="MIM:616107"
ORIGIN      
        1 mvsipeyyeg knvlltgatg flgkvllekl lrscpkvnsv yvlvrqkagq tpqerveevl
       61 sgklfdrlrd enpdfrekii ainseltqpk lalseedkev iidstniifh caatvrfnen
      121 lrdavqlnvi atrqlillaq qmknlevfmh vstayaycnr khidevvypp pvdpkklids
      181 lewmddglvn ditpkligdr pntyiytkal aeyvvqqega klnvaivrps ivgaswkepf
      241 pgwidnfngp sglfiaagkg ilrtirasnn aladlvpvdv vvnmslaaaw ysgvnrymrp
      301 rnimvynctt gstnpfhwge veyhvistfk rnpleqafrr pnvnltsnhl lyhywiavsh
      361 kapaflydiy lrmtgrsprm mktitrlhka mvfleyftsn swvwntenvn mlmnqlnped
      421 kktfnidvrq lhwaeyieny clgtkkyvln eemsglpaar khlnklrnir ygfntilvil
      481 iwrifiarsq marniwyfvv slcykflsyf rasstmry
//
LOCUS       XP_047283762             571 aa            linear   PRI 20-MAR-2023
DEFINITION  myotubularin-related protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_047283762
VERSION     XP_047283762.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427806.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..571
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..571
                     /product="myotubularin-related protein 2 isoform X2"
                     /calculated_mol_wt=65828
     Region          1..115
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          130..456
                     /region_name="Myotub-related"
                     /note="Myotubularin-like phosphatase domain; pfam06602"
                     /db_xref="CDD:429026"
     CDS             1..571
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /coded_by="XM_047427806.1:305..2020"
                     /db_xref="GeneID:8898"
                     /db_xref="HGNC:HGNC:7450"
                     /db_xref="MIM:603557"
ORIGIN      
        1 meeppllpge nikdmakdvt yicpftgavr gtltvtnyrl yfksmerdpp fvldaslgvi
       61 nrvekiggas srgensygle tvckdirnlr fahkpegrtr rsifenlmky afpvsnnlpl
      121 fafeykevfp engwklydpl leyrrqgipn eswritkine ryelcdtypa llvvpanipd
      181 eelkrvasfr srgripvlsw ihpesqatit rcsqpmvgvs gkrskedeky lqaimdsnaq
      241 shkififdar psvnavanka kgggyeseda yqnaelvfld ihnihvmres lrklkeivyp
      301 nieethwlsn lesthwlehi klilagalri adkvesgkts vvvhcsdgwd rtaqltslam
      361 lmldgyyrti rgfevlveke wlsfghrfql rvghgdknha dadrspvflq fidcvwqmtr
      421 qfptafefne yflitildhl ysclfgtflc nseqqrgken lpkrtvslws yinsqledft
      481 nplygsysnh vlypvasmrh lelwvgyyir wnprmkpqep ihnrykella kraelqkkve
      541 elqreisnrs tssserassp aqcvtpvqtv v
//
LOCUS       XP_006719382             270 aa            linear   PRI 20-MAR-2023
DEFINITION  single-strand selective monofunctional uracil DNA glycosylase
            isoform X1 [Homo sapiens].
ACCESSION   XP_006719382
VERSION     XP_006719382.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006719319.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..270
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..270
                     /product="single-strand selective monofunctional uracil
                     DNA glycosylase isoform X1"
                     /calculated_mol_wt=29731
     Region          29..258
                     /region_name="UDG-F3_SMUG1-like"
                     /note="Uracil DNA glycosylase family 3 subfamily, includes
                     single-strand-selective monofunctional uracil-DNA
                     glycosylase 1 and similar proteins; cd19374"
                     /db_xref="CDD:381689"
     Site            order(83..87,97..98,135,163,239)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:381689"
     Region          83..87
                     /region_name="motif A"
                     /note="motif A [structural motif]"
                     /db_xref="CDD:381689"
     Site            87
                     /site_type="other"
                     /note="substrate specificity residue"
                     /db_xref="CDD:381689"
     Site            order(184,214..216,239,241,243)
                     /site_type="active"
                     /db_xref="CDD:381689"
     CDS             1..270
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /coded_by="XM_006719319.4:261..1073"
                     /db_xref="GeneID:23583"
                     /db_xref="HGNC:HGNC:17148"
                     /db_xref="MIM:607753"
ORIGIN      
        1 mpqafllgsi hepagalmep qpcpgslaes fleeelrlna elsqlqfsep vgiiynpvey
       61 awephrnyvt rycqgpkevl flgmnpgpfg maqtgvpfge vsmvrdwlgi vgpvltppqe
      121 hpkrpvlgle cpqsevsgar fwgffrnlcg qpevffhhcf vhnlcpllfl apsgrnltpa
      181 elpakqreql lgicdaalcr qvqllgvrlv vgvgrlaeqr arralaglmp evqvegllhp
      241 sprnpqankg weavakerln elgllplllk
//
LOCUS       XP_006719531             307 aa            linear   PRI 20-MAR-2023
DEFINITION  V-set and immunoglobulin domain-containing protein 10 isoform X5
            [Homo sapiens].
ACCESSION   XP_006719531
VERSION     XP_006719531.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006719468.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..307
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..307
                     /product="V-set and immunoglobulin domain-containing
                     protein 10 isoform X5"
                     /calculated_mol_wt=33676
     Region          91..172
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          94..98
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          108..112
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          137..141
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          152..157
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..307
                     /gene="VSIG10"
                     /coded_by="XM_006719468.2:126..1049"
                     /db_xref="GeneID:54621"
                     /db_xref="HGNC:HGNC:26078"
ORIGIN      
        1 masgsfmlql tcrwdggypd pdflwieepg gvivgksklg vemlsesqls dgkkfkcvts
       61 hivgpesgas cmvqirgpsl lsepmktcft ggnvtltcqv sgayppakil wlrnltqpev
      121 iiqpssrhli tqdgqnstlt ihncsqdlde gyyicradsp vgvremeiwl svkeplnigg
      181 ivgtivslll lglaiisgll lhyspvfcwk vgntsrgqnm ddvmvlvdse eeeeeeeeee
      241 edaavgeqeg arereelpke ipkqdhihrv talvngnieq mgngfqdlqd dsseeqsdiv
      301 qeedrpv
//
LOCUS       XP_047286106             690 aa            linear   PRI 20-MAR-2023
DEFINITION  ligand of Numb protein X 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047286106
VERSION     XP_047286106.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430150.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..690
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..690
                     /product="ligand of Numb protein X 2 isoform X1"
                     /calculated_mol_wt=75873
     Region          45..89
                     /region_name="mRING-HC-C3HC3D_LNX2"
                     /note="Modified RING finger, HC subclass (C3HC3D-type),
                     found in ligand of numb protein X 2 (LNX2); cd16780"
                     /db_xref="CDD:319694"
     Site            order(45,47..48,57,65..68)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:319694"
     Region          230..316
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(244..247,249,299..300,303..304)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          336..422
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(350..353,355,403..404,407..408)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          466..542
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(478..481,483,535..536,539..540)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          599..683
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(610..613,615,667..668,671..672)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     CDS             1..690
                     /gene="LNX2"
                     /gene_synonym="PDZRN1"
                     /coded_by="XM_047430150.1:608..2680"
                     /db_xref="GeneID:222484"
                     /db_xref="HGNC:HGNC:20421"
                     /db_xref="MIM:609733"
ORIGIN      
        1 mgttsdemvs veqtssssln plcfecgqqh wtrenhlyny qnevdddlvc hiclqpllqp
       61 ldtpcghtfc ykclrnflqe kdfcpldrkr lhfklckkss ilvhklldkl lvlcpfssvc
      121 kdvmqrcdle ahlknrcpga shrrvalerr ktsrtqaeie nengptlldp agtlspeadc
      181 lgtgavpver hltsaslstw seepgldnpa feesagadtt qqplslpege ittieihrsn
      241 pyiqlgisiv ggnetplini viqevyrdgv iardgrllag dqilqvnnyn isnvshnyar
      301 avlsqpcntl hltvlrerrf gnrahnhsds nspreeifqv alhkrdsgeq lgiklvrrtd
      361 epgvfildll egglaaqdgr lssndrvlai nghdlkygtp elaaqiiqas gervnltiar
      421 pgkpqpgnti reagnhssss qhhtpppyys rpsshkdltq cvtcqekhit vkkepheslg
      481 mtvaggrgsk sgelpifvts vpphgclard grikrgdvll ningidltnl shseavamlk
      541 asaaspaval kalevqivee atqnaeeqps tfseneydas wspswvmwlg lpstlhschd
      601 ivlrrsylgs wgfsivggye enhtnqpffi ktivlgtpay ydgrlkcgdm ivavnglstv
      661 gmshsalvpm lkeqrnkvtl tvicwpgslv
//
LOCUS       XP_005266517             812 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor SPT20 homolog isoform X9 [Homo sapiens].
ACCESSION   XP_005266517
VERSION     XP_005266517.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005266460.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..812
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..812
                     /product="transcription factor SPT20 homolog isoform X9"
                     /calculated_mol_wt=88039
     Region          77..216
                     /region_name="Spt20"
                     /note="Spt20 family; pfam12090"
                     /db_xref="CDD:432324"
     CDS             1..812
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /coded_by="XM_005266460.3:224..2662"
                     /db_xref="GeneID:55578"
                     /db_xref="HGNC:HGNC:20596"
                     /db_xref="MIM:613417"
ORIGIN      
        1 mqqalelald raeyviesar qrppkrkyls sgrksvfqkl ydlyieecek epevkqklrr
       61 nvnlleklvm qetlsclvvn lypgnegysl mlrgkngsds etirlpyeeg elleyldaee
      121 lppilvdlle ksqvnifhcg cviaeirdyr qssnmkspgy qsrhillrpt mqtlicdvhs
      181 itsdnhkwtq edklllesql ilataeplcl dpsiavtcta nrllynkqkm ntrpmkrcfk
      241 rysrsslnrq qdlshcpppp qlrlldflqk rkerkagqhy dlkiskagnc vdmwkrspcn
      301 laipsevdve kyakveksik sddsqptvwp ahdvkddyvf eceagtqyqk tkltilqslg
      361 dplyygkiqp ckadeesdsq mspshsstdd hsnwfiigsk tdaervvnqy qelvqneakc
      421 pvkmshsssg saslsqvspg ketdqtetvs vqssvlgkgv khrpppiklp sssgnsssgn
      481 yftpqqtssf lksptpppss kpssiprkss vdlnqvsmls paalspasss qrsgtpkpst
      541 ptptpsstph ppdaqsstps tpsatptpqd sgftpqptll tqfaqqqrsl sqampvttip
      601 lstmvtsitp gttatqvman saglnfinvv gsvcgaqalm sgsnpmlgcn tgaitpagin
      661 lsgllpsggl lpnalpsamq aasqagvpfg lkntsslrpl nllqlpggsl ifntlqqqqq
      721 qlsqftpqqp qqpttcspqq pgeqgseqgs tsqeqalsaq qaavinltgv gsfmqsqaaa
      781 vailaasngy gsssstnssa tsssayrqpv kk
//
LOCUS       XP_016877571             927 aa            linear   PRI 20-MAR-2023
DEFINITION  protogenin isoform X2 [Homo sapiens].
ACCESSION   XP_016877571
VERSION     XP_016877571.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017022082.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..927
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..927
                     /product="protogenin isoform X2"
                     /calculated_mol_wt=102836
     Region          38..130
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          56..60
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          69..73
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          91..95
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          110..115
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          124..127
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          141..223
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          152..156
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          165..169
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          188..192
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          202..207
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          235..307
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          252..256
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          265..269
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          287..291
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          301..306
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          316..319
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          327..412
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          345..348
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          357..361
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          378..382
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          392..397
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          405..408
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          419..512
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(419,485,500)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(501..502,504..505)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          517..610
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(517,583,598)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(599..600,602..603)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            order(619,682,697)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          624..699
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          726..814
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(803..804,806..807)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          821..>890
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     CDS             1..927
                     /gene="PRTG"
                     /gene_synonym="IGDCC5"
                     /coded_by="XM_017022082.3:222..3005"
                     /db_xref="GeneID:283659"
                     /db_xref="HGNC:HGNC:26373"
                     /db_xref="MIM:613261"
ORIGIN      
        1 mapplrplar lrppgmllra lllllllspl pgvwcfsels fvkepqdvtv trkdpvvldc
       61 qahgevpikv twlkngakms enkrievlsn gslyiseveg rrgeqsdegf yqclamnkyg
      121 ailsqkahla lstisafevq pistevhegg varfackiss hppavitwef nrttlpmtmd
      181 ritalptgvl qiydvsqrds gnyrciaatv ahrrksmeas ltvipakesk sfhtptiiag
      241 pqnittslhq tvvlecmatg npkpiiswsr ldhksidvfn trvlgngnlm isdvrlqhag
      301 vyvcrattpg trnftvamat ltvlappsfv ewpesltrpr agtarfvcqa egipspkmsw
      361 lkngrkihsn grikmynskl vinqiipedd aiyqcmaens qgsilsrarl tvvmsedrps
      421 apynvhaetm sssaillawe rplynsdkvi aysvhymkae glnneeyqvv igndtthyii
      481 ddlepasnyt fyivaympmg asqmsdhvtq ntledvplrp peisltsrsp tdiliswlpi
      541 pakyrrgqvv lyrlsfrlst ensiqvlelp gttheylleg lkpdsvylvr itaatrvglg
      601 essvwtshrt pkatsvkapk spelhlepln cttisvrwqq dvedtaaiqg yklyykeegq
      661 qengpifldt kdllytlsgl dprrkyhvrl laynniddgy qadqtvstpg cvsvrdrmvp
      721 ppppphhlya kantsssifl hwrrpaftaa qiinytircn pvglqnaslv lylqtsethm
      781 lvqglepntk yefavrlhvd qlsspwspvv yhstlpeapa gppvgvkvtl ieddtalvsw
      841 kppdgpetvv trytilyasr kawiagewqv lhrevvysss shslqaklkp enmktscvla
      901 pgiaagglaa shrvtcrdgl rlmtsal
//
LOCUS       XP_047288382             690 aa            linear   PRI 20-MAR-2023
DEFINITION  amyloid-beta A4 precursor protein-binding family A member 2 isoform
            X4 [Homo sapiens].
ACCESSION   XP_047288382
VERSION     XP_047288382.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432426.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..690
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..690
                     /product="amyloid-beta A4 precursor protein-binding family
                     A member 2 isoform X4"
                     /calculated_mol_wt=76039
     Region          363..523
                     /region_name="PTB_X11"
                     /note="X11-like Phosphotyrosine-binding (PTB) domain;
                     cd01208"
                     /db_xref="CDD:269919"
     Site            order(375,453,493)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269919"
     Site            order(393,442,445..450,501,512,515)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:269919"
     Region          556..639
                     /region_name="PDZ"
                     /note="PDZ domain (Also known as DHR or GLGF); pfam00595"
                     /db_xref="CDD:395476"
     Site            order(566..569,571,622..623,626..627)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     CDS             1..690
                     /gene="APBA2"
                     /gene_synonym="D15S1518E; HsT16821; LIN-10; MGC:14091;
                     MINT2; X11-BETA; X11L"
                     /coded_by="XM_047432426.1:510..2582"
                     /db_xref="GeneID:321"
                     /db_xref="HGNC:HGNC:579"
                     /db_xref="MIM:602712"
ORIGIN      
        1 mahrklesvg sgmldhrvrp gpvphsqepe sedmelpleg yvpeglelaa lrpespapee
       61 qechnhspdg dsssdyvnnt seeedydegl peeeegityy irycpeddsy legmdcngee
      121 ylahsahpvd tdecqeavee wtdsagphph gheaegsqdy pdgqlpiped epsvleahdq
      181 eedghycask egyqdyypee angntgaspy rlrrgdgdle dqeedidqiv aeikmslsmt
      241 sitsaseasp ehgpepgped sveacppika scspsrhear pkslnllpea khpgdpqrgf
      301 kpktrtpeer lkwpheqvcn gleqprkqqr sdlngpvdnn nipetkkvas fpsfvavpgp
      361 cepedlidgi ifaanylgst qllsernpsk nirmmqaqea vsrvknsegd aqtltevdlf
      421 istqrikvln adtqetmmdh alrtisyiad ignivvlmar rrmprsasqd ciettpgaqe
      481 gkkqykmich vfesedaqli aqsigqafsv ayqeflrang inpedlsqke ysdiintqem
      541 ynddlihfsn senckelqle khkgeilgvv vvesgwgsil ptvilanmmn ggpaarsgkl
      601 sigdqimsin gtslvglpla tcqgiikglk nqtqvklniv scppvttvli krpdlkyqlg
      661 fsvqngitqr aemwplsgvk kkragntqiv
//
LOCUS       XP_016878068             981 aa            linear   PRI 20-MAR-2023
DEFINITION  SAFB-like transcription modulator isoform X14 [Homo sapiens].
ACCESSION   XP_016878068
VERSION     XP_016878068.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017022579.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..981
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..981
                     /product="SAFB-like transcription modulator isoform X14"
                     /calculated_mol_wt=111501
     Region          <1..281
                     /region_name="MDN1"
                     /note="Midasin, AAA ATPase with vWA domain, involved in
                     ribosome maturation [Translation, ribosomal structure and
                     biogenesis]; COG5271"
                     /db_xref="CDD:227596"
     Region          236..>443
                     /region_name="RRM"
                     /note="RNA recognition motif (RRM) domain [Translation,
                     ribosomal structure and biogenesis]; COG0724"
                     /db_xref="CDD:223796"
     Region          332..405
                     /region_name="RRM_SLTM"
                     /note="RNA recognition motif (RRM) found in Scaffold
                     attachment factor (SAF)-like transcription modulator
                     (SLTM) and similar proteins; cd12678"
                     /db_xref="CDD:410079"
     Region          745..>980
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     CDS             1..981
                     /gene="SLTM"
                     /gene_synonym="Met"
                     /coded_by="XM_017022579.2:261..3206"
                     /db_xref="GeneID:79811"
                     /db_xref="HGNC:HGNC:20709"
ORIGIN      
        1 maieeeggdp dnieltvstd tpnkkptkgk gkkheadels gdasveddaf ikdcelenqe
       61 aheqdgndel kdseefgene eenvhskell saeenkrahe lieaegiedi ekediesqei
      121 eaqegeddtf ltaqdgeeee nekdiagsgd gtqevskplp segslaeadh taheemeaht
      181 tvkeaeddni svtiqaedai tldfdgddll etgknvkitd seaskpkdgq daiaqspeke
      241 skdyemnanh kdgkkedcvk gdpvekeare sskkaesgdk ekdtlkkgps stgasgqaks
      301 sskeskdskt sskddkgsts stsgssgsst kniwvsglss ntkaadlknl fgkygkvlsa
      361 kvvtnarspg akcygivtms sstevsrcia hlhrtelhgq lisvekvkgd pskkemkken
      421 deksssrssg dkkntsdrss ktqasvkkee krsseksekk eskdtkkieg kdekndngas
      481 gqtsesikks eekkrissks pghmvildqt kgdhcrpsrr gryekihgrs kekerasldk
      541 krdkdyrrke ilpfekmkeq rlrehlvrfe rlrramelrr rreiaererr ereririire
      601 reererlqre rerleierqk lerermerer lereririeq errkeaeria rereelrrqq
      661 qqlryeqekr nslkrprdvd hrrddpywse nkklsldtda rfghgsdysr qqnrfndfdh
      721 rergrfpess avqsssferr drfvgqsegk karptarred psferypknf sdsrrneppp
      781 prnelresdr revrgerder rtviihdrpd ithprhprea gpnpsrptsw ksegsmstdk
      841 retrverper sgrevsghsv rgappgnrss asgygsregd rgvitdrggg sqhypeerhv
      901 verhgrdtsg prkewhgpps qgpsyhdtrr mgdgragagm itqhssnasp inrivqisgn
      961 smprgsgsgf kpfkggpprr f
//
LOCUS       XP_011520363            1093 aa            linear   PRI 20-MAR-2023
DEFINITION  probable phospholipid-transporting ATPase IM isoform X17 [Homo
            sapiens].
ACCESSION   XP_011520363
VERSION     XP_011520363.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011522061.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1093
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1093
                     /product="probable phospholipid-transporting ATPase IM
                     isoform X17"
                     /calculated_mol_wt=123833
     Region          2..874
                     /region_name="P-type_ATPase_APLT_Dnf-like"
                     /note="Aminophospholipid translocases (APLTs), similar to
                     Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2,
                     -10D, -11B, -11C; cd02073"
                     /db_xref="CDD:319770"
     Site            order(293..295,438,461..463,528,575..577,690,693,696,716,
                     719)
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:319770"
     Site            293..299
                     /site_type="other"
                     /note="P-type ATPase signature motif"
                     /db_xref="CDD:319770"
     Site            293
                     /site_type="phosphorylation"
                     /note="phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:319770"
     CDS             1..1093
                     /gene="ATP8B4"
                     /gene_synonym="ATPIM"
                     /coded_by="XM_011522061.1:269..3550"
                     /db_xref="GeneID:79895"
                     /db_xref="HGNC:HGNC:13536"
                     /db_xref="MIM:609123"
ORIGIN      
        1 mnvkvgdiik lennqfvaad llllssseph glcyvetael dgslccykdv pwvecqlfga
       61 qealptflkq etnlkvrhal svtselgadi srlagfdgiv vcevpnnkld kfmgilswkd
      121 skhslnneki ilrgcilrnt swcfgmvifa gpdtklmqns gktkfkrtsi drlmntlvlw
      181 ifgfliclgi ilaignsiwe sqtgdqfrtf lfwnegekss vfsgfltfws yiiilntvvp
      241 islyvsvevi rlghsyfinw drkmyysrka ipavartttl neelgqieyi fsdktgtltq
      301 nimtfkrcsi ngriygevhd dldqkteitq ekepvdfsvk sqadrefqff dhhlmesikm
      361 gdpkvheflr llalchtvms eensageliy qvqspdegal vtaarnfgfi fksrtpetit
      421 ieelgtlvty qllafldfnn trkrmsvivr npegqiklys kgadtilfek lhpsnevlls
      481 ltsdhlsefa geglrtlaia yrdlddkyfk ewhkmledan aateerderi aglyeeierd
      541 lmllgatave dklqegviet vtslslanik iwvltgdkqe tainigyacn mltddmndvf
      601 viagnnavev reelrkakqn lfgqnrnfsn ghvvcekkqq leldsiveet itgdyaliin
      661 ghslahales dvkndllela cmcktviccr vtplqkaqvv elvkkyrnav tlaigdgand
      721 vsmiksahig vgisgqeglq avlasdysfa qfrylqrlll vhgrwsyfrm ckflcyffyk
      781 nfaftlvhfw fgffcgfsaq tvydqwfitl fnivytslpv lamgifdqdv sdqnsvdcpq
      841 lykpgqlnll fnkrkfficv lhgiytslvl ffipygafyn vagedgqhia dyqsfavtma
      901 tslvivvsvq ialdtsywtf inhvfiwgsi aiyfsilftm hsngifgifp nqfpfvgnar
      961 hsltqkciwl villttvasv mpvvafrflk vdlyptlsdq irrwqkaqkk arppssrrpr
     1021 trrsssrrsg yafahqegyg elitsgknmr aknppptsgl ekthynstsw ienlckkttd
     1081 tvssfsqdkt vkl
//
LOCUS       XP_005272603             360 aa            linear   PRI 20-MAR-2023
DEFINITION  magnesium transporter NIPA2 isoform X1 [Homo sapiens].
ACCESSION   XP_005272603
VERSION     XP_005272603.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005272546.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..360
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..360
                     /product="magnesium transporter NIPA2 isoform X1"
                     /calculated_mol_wt=39054
     Region          8..302
                     /region_name="Mg_trans_NIPA"
                     /note="Magnesium transporter NIPA; pfam05653"
                     /db_xref="CDD:398984"
     CDS             1..360
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /coded_by="XM_005272546.4:861..1943"
                     /db_xref="GeneID:81614"
                     /db_xref="HGNC:HGNC:17044"
                     /db_xref="MIM:608146"
ORIGIN      
        1 msqgrgkydf yiglglamss sifiggsfil kkkgllrlar kgsmragqgg haylkewlww
       61 agllsmgage vanfaayafa patlvtplga lsvlvsails syflnerlnl hgkigcllsi
      121 lgstvmviha pkeeeietln emshklgdpg fvvfatlvvi valilifvvg prhgqtnilv
      181 yiticsviga fsvscvkglg iaikelfagk pvlrhplawi lllslivcvs tqinylnral
      241 difntsivtp iyyvffttsv ltcsailfke wqdmpvddvi gtlsgfftii vgifllhafk
      301 dvsfslaslp vsfrkdekam ngnlsnmyev lnnneesltc gieqhtgenv srrngnltaf
//
LOCUS       XP_005255280             298 aa            linear   PRI 20-MAR-2023
DEFINITION  nicotinate-nucleotide pyrophosphorylase [carboxylating] isoform X1
            [Homo sapiens].
ACCESSION   XP_005255280
VERSION     XP_005255280.3
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005255223.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_005255280.2.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..298
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..298
                     /product="nicotinate-nucleotide pyrophosphorylase
                     [carboxylating] isoform X1"
                     /calculated_mol_wt=30843
     Region          18..286
                     /region_name="nadC"
                     /note="nicotinate-nucleotide pyrophosphorylase; TIGR00078"
                     /db_xref="CDD:272894"
     CDS             1..298
                     /gene="QPRT"
                     /gene_synonym="HEL-S-90n; QPRTase"
                     /coded_by="XM_005255223.4:19..915"
                     /db_xref="GeneID:23475"
                     /db_xref="HGNC:HGNC:9755"
                     /db_xref="MIM:606248"
ORIGIN      
        1 mdaeglalll ppvtlaalvd swlredcpgl nyaalvsgag psqaalwaks pgvlagqpff
       61 daiftqlncq vswflpegsk lvpvarvaev rgpahclllg ervalntlar csgiasaaaa
      121 aveaargagw tghvagtrkt tpgfrlveky gllvggaash rydlgglvmv kdnhvvaagg
      181 vekqavraar qaadftlkve vecsslqeav qaaeagadlv lldnfkpeel hptatvlkaq
      241 fpsvaveasg gitldnlpqf cgphidvism gmltqaapal dfslklfake vapvpkih
//
LOCUS       XP_047292798             872 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-XIX isoform X16 [Homo sapiens].
ACCESSION   XP_047292798
VERSION     XP_047292798.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436842.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..872
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..872
                     /product="unconventional myosin-XIX isoform X16"
                     /calculated_mol_wt=98430
     Region          49..746
                     /region_name="MYSc_Myo19"
                     /note="class XIX myosin, motor domain; cd14880"
                     /db_xref="CDD:276846"
     Site            order(76..85,132..139,185..195,414..419)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276846"
     Site            76..85
                     /site_type="other"
                     /note="purine-binding loop"
                     /db_xref="CDD:276846"
     Site            132..139
                     /site_type="other"
                     /note="P-loop"
                     /db_xref="CDD:276846"
     Site            185..195
                     /site_type="other"
                     /note="switch I region"
                     /db_xref="CDD:276846"
     Site            414..419
                     /site_type="other"
                     /note="switch II region"
                     /db_xref="CDD:276846"
     Site            443..466
                     /site_type="other"
                     /note="relay loop"
                     /db_xref="CDD:276846"
     Site            644..653
                     /site_type="other"
                     /note="SH1 helix"
                     /db_xref="CDD:276846"
     Site            order(656..682,735..746)
                     /site_type="other"
                     /note="converter subdomain"
                     /db_xref="CDD:276846"
     CDS             1..872
                     /gene="MYO19"
                     /gene_synonym="MYOHD1"
                     /coded_by="XM_047436842.1:481..3099"
                     /db_xref="GeneID:80179"
                     /db_xref="HGNC:HGNC:26234"
                     /db_xref="MIM:617379"
ORIGIN      
        1 mlqqvnghnp gsdgqareyl redlqeflgg evllyklddl trvnpvtlet vlrclqarym
       61 adtfytnagc tlvalnpfkp vpqlyspelm reyhaapqpq klkphvftvg eqtyrnvksl
      121 iepvnqsivv sgesgagktw tsrclmkfya vvatspaswe shkiaerieq rilnsnpvme
      181 afgnactlrn nnssrfgkfi qlqlnraqqm tgaavqtyll ektrvacqas sernfhifyq
      241 ickgaseder lqwhlpegaa fswlpnpers leedcfevtr eamlhlgidt ptqnnifkvl
      301 agllhlgniq faasedeaqp cqpmddakys vrtaasllgl pedvllemvq irtiragrqq
      361 qvfrkpcara ecdtrrdcla kliyarlfdw lvsvinssic adtdswttfi glldvygfes
      421 fpdnsleqlc inyaneklqq hfvahylraq qeeyavegle wsfinyqdnq pcldliegsp
      481 isicslinee crlnrpssaa qlqtrietal agspclghnk lsrepsfivv hyagpvryht
      541 aglveknkdp ippeltrllq qsqdpllmgl fptnpkektq eeppgqsrap vltvvskfka
      601 sleqllqvlh sttphyirci kpnsqgqaqt flqeevlsql eacglvetih isaagfpirv
      661 shrnfveryk llrrlhpcts sgpdspypak glpewcphse eatlepliqd ilhtlpvltq
      721 aaaitgdsae ampapmhcgr tkvfmtdsml ellecgrarv leqcarciqg gwrrhrhreq
      781 erqwravmli qaairswltr khiqrlhaaa tvikrawqkw rgsikfhcrk splryadicp
      841 epspysitgf nqillerhrl ihvtssaftg lg
//
LOCUS       XP_047292829             778 aa            linear   PRI 20-MAR-2023
DEFINITION  axin-2 isoform X2 [Homo sapiens].
ACCESSION   XP_047292829
VERSION     XP_047292829.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436873.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..778
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..778
                     /product="axin-2 isoform X2"
                     /calculated_mol_wt=86550
     Region          10..75
                     /region_name="AXIN1_TNKS_BD"
                     /note="Axin-1 tankyrase binding domain; pfam16646"
                     /db_xref="CDD:435487"
     Region          82..198
                     /region_name="RGS_Axin"
                     /note="Regulator of G protein signaling (RGS) domain found
                     in the Axin protein; cd08707"
                     /db_xref="CDD:188662"
     Site            order(86..89,92,109,112..113,116..117,119,129..130,
                     132..134,136..137)
                     /site_type="other"
                     /note="APC binding site [polypeptide binding]"
                     /db_xref="CDD:188662"
     Region          433..468
                     /region_name="Axin_b-cat_bind"
                     /note="Axin beta-catenin binding domain; pfam08833"
                     /db_xref="CDD:430248"
     Region          696..778
                     /region_name="DAX"
                     /note="Domain present in Dishevelled and axin; smart00021"
                     /db_xref="CDD:197474"
     CDS             1..778
                     /gene="AXIN2"
                     /gene_synonym="AXIL; ODCRCS"
                     /coded_by="XM_047436873.1:470..2806"
                     /db_xref="GeneID:8313"
                     /db_xref="HGNC:HGNC:904"
                     /db_xref="MIM:604025"
ORIGIN      
        1 mssamlvtcl pdpsssfred aprppvpgee getppcqpgv gkgqvtkpmp vssntrrned
       61 glgepegras pdspltrwtk slhsllgdqd gaylfrtfle rekcvdtldf wfacngfrqm
      121 nlkdtktlrv akaiykryie nnsivskqlk patktyirdg ikkqqidsim fdqaqteiqs
      181 vmeenayqmf ltsdiyleyv rsggentaym sngglgslkv vcgylptlne eeewtcadfk
      241 cklsptvvgl ssktlratas vrstetvdsg yrsfkrsdpv npyhigsgyv fapatsands
      301 eissdaltdd smsmtdssvd gippyrvgsk kqlqremhrs vkangqvslp hfprthrlpk
      361 emtpvepatf aaelisrlek lklelesrhs leerlqqire deeregselt lnsregaptq
      421 hplsllpsgs yeedpqtild dhlsrvlktp gcqspgvgry sprsrspdhh hhhhsqyhsl
      481 lppggklppa aaspgacpll ggkgfvtkqt tkhvhhhyih hhavpktkee ieaeatqrvh
      541 cfcpggseyy cyskckshsk apetmpseqf gaqstkkayp lesarsspge rasrhhlwgg
      601 nsghprttpr ahlftqdpam ppltppntla qleeacrrla evskppkqrc cvasqqrdrn
      661 hsatvqtgat pfsnpslape dhkepkklag vhalqaselv vtyffcgeei pyrrmlkaqs
      721 ltlghfkeql skkgnyryyf kkasdefacg avfeeiwede tvlpmyegri lgkverid
//
LOCUS       XP_047293426            1212 aa            linear   PRI 20-MAR-2023
DEFINITION  rotatin isoform X14 [Homo sapiens].
ACCESSION   XP_047293426
VERSION     XP_047293426.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437470.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1212
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..1212
                     /product="rotatin isoform X14"
                     /calculated_mol_wt=135942
     Region          16..112
                     /region_name="RTTN_N"
                     /note="Rotatin, an armadillo repeat protein, centriole
                     functioning; pfam14726"
                     /db_xref="CDD:434161"
     CDS             1..1212
                     /gene="RTTN"
                     /gene_synonym="MSSP"
                     /coded_by="XM_047437470.1:30..3668"
                     /db_xref="GeneID:25914"
                     /db_xref="HGNC:HGNC:18654"
                     /db_xref="MIM:610436"
ORIGIN      
        1 mvlaglirkl ghqlaeirer alksilckie hnlicyadli qerqlflhll ewfnfpsvpm
       61 keevlnllsr lvkyppavqh lvdvgavefl sklrsnvepn lqaeidgild glfllpsevp
      121 alssasyqtn qtelsknpei ltgyfpqdks nfqqmevppr pvvnqtvkcl kfstfpwlpl
      181 tttdrhvlss nesslrssnh tliwntcell kdvimqdfpa eiflqrpkiv qsllsllkla
      241 fgdgkhrlal qsvsclqqlc mylrnrlnfh rdpgffsnkh dtvsqnssls ycheargthh
      301 sqnpspgsss prpsvvgrtg qrprgdgqdw daasssgsss hahvnsrisv hspldmghid
      361 lpeletedtl elqfqqlslp qfcvsilesa vpllrtgsrq viirvlellt edmtligeai
      421 stdiwddssl fgidmkekll lvlgalgetm cyhkssisle qpevmlvhhr mafisislfa
      481 vrllqtllpv ekaseflsep mstalfllsl dmpisleypn iheavvayle qlnsenysiy
      541 krtaeavysi ectcnflsdi gkegeknlle lveladqalr sfsyhqhfpl ikeiisicsk
      601 iwksaqaspl lqgesqkvll hmlshplprv kaetyhccle itkeclgvhn vtkpvsslcn
      661 gihfllhpkv lyeisvfgiq epeseqvnta akaillyllq grlmmtaltw nkfieslcpv
      721 ipilqgyadt edplgncill lskassdtee mlpcttrlks mlrlllvkkp svrslalkll
      781 afhltseega dtkrplidar vlsrvtdlfi gkkpielrld drrelvikle tvekvyeift
      841 sddvdlvlrk saaeqlavim qdikmhavvk klclidkiie ylnecvsqdg kvveclvqpc
      901 ltllrkvlcg dpvmrvslsq qsslltvlfr vslifhedcs vvtevgalfc lllfdevsrm
      961 dmwsvnpsnk pslpsvfslp vsvfrryhlp vhvighhavs pysivlplsa dclalkpvsd
     1021 mlriawnlsw yhgsdnllkq mnsetktqei ldalklsted iltlkithma sglqdclhsi
     1081 vqaathrevr aavtrmsfyl lndrlslkgc pgpcgvtlks lawhtalnrf lqvlpacted
     1141 ekllidiihf lnklikeqrk nsslellnwi lelllrheml gtslrfsnaa gsetapvses
     1201 dgcasflwpa vp
//
LOCUS       XP_011526103            1462 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor L1 isoform X10 [Homo sapiens].
ACCESSION   XP_011526103
VERSION     XP_011526103.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011527801.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_011526103.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1462
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..1462
                     /product="adhesion G protein-coupled receptor L1 isoform
                     X10"
                     /calculated_mol_wt=160848
     Region          99..355
                     /region_name="OLF"
                     /note="Olfactomedin-like domain; cl02549"
                     /db_xref="CDD:445825"
     Region          <355..459
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          440..503
                     /region_name="HormR"
                     /note="Domain present in hormone receptors; smart00008"
                     /db_xref="CDD:214468"
     Region          513..738
                     /region_name="GAIN"
                     /note="GPCR-Autoproteolysis INducing (GAIN) domain;
                     pfam16489"
                     /db_xref="CDD:435371"
     Region          762..814
                     /region_name="GPS"
                     /note="G-protein-coupled receptor proteolytic site domain;
                     smart00303"
                     /db_xref="CDD:197639"
     Region          821..1078
                     /region_name="7tmB2_Latrophilin-1"
                     /note="Latrophilin-1, member of the class B2 family of
                     seven-transmembrane G protein-coupled receptors; cd16007"
                     /db_xref="CDD:320673"
     Region          823..848
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320673"
     Site            order(828,832,874,877..878,881,888,895,967..968,970,972,
                     1028,1031,1043,1047)
                     /site_type="other"
                     /note="putative polypeptide ligand binding pocket
                     [polypeptide binding]"
                     /db_xref="CDD:320673"
     Region          857..879
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320673"
     Region          888..915
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320673"
     Region          927..947
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320673"
     Region          964..993
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320673"
     Region          1009..1036
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320673"
     Region          1040..1065
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320673"
     Region          1077..1462
                     /region_name="Latrophilin"
                     /note="Latrophilin Cytoplasmic C-terminal region;
                     pfam02354"
                     /db_xref="CDD:426735"
     CDS             1..1462
                     /gene="ADGRL1"
                     /gene_synonym="CIRL1; CL1; DEDBANP; LEC2; LPHN1"
                     /coded_by="XM_011527801.3:29..4417"
                     /db_xref="GeneID:22859"
                     /db_xref="HGNC:HGNC:20973"
                     /db_xref="MIM:616416"
ORIGIN      
        1 mltlsrwrmc satcrtpsrs chrgvttaps awwsparmpf ltpvlgptst wrcsttvspt
       61 kwsrkglggw ggaphlsdis aalvplpepg mvavfvcpgt lqkvleptst hesehqsgaw
      121 ckdplqagdr iyvmpwipyr tdtlteyasw edyvaarhtt tyrlpnrvdg tgfvvydgav
      181 fynkertrni vkydlrtrik sgetvintan yhdtspyrwg gktdidlavd englwviyat
      241 egnngrlvvs qlnpytlrfe gtwetgydkr sasnafmvcg vlyvlrsvyv dddseaagnr
      301 vdyafntnan reepvsltfp npyqfissvd ynprdnqlyv wnnyfvvrys lefgppdpsa
      361 geddslpgpa tspplstttt arptpltsta spaattplrr apltthpvga inqlgpdlpp
      421 atapvpstrr ppapnlhvsp elfceprevr rvqwpatqqg mlverpcpkg trgiasfqcl
      481 palglwnprg pdlsnctspw vnqvaqkiks genaaniase larhtrgsiy agdvsssvkl
      541 meqlldilda qlqalrpier esagknynkm hkrertckdy ikavvetvdn llrpealesw
      601 kdmnateqvh tatmlldvle egaflladnv reparflaak envvlevtvl ntegqvqelv
      661 fpqeeyprkn siqlsaktik qnsrngvvkv vfilynnlgl flstenatvk lageagpggp
      721 ggaslvvnsq viaasinkes srvflmdpvi ftvahledkn hfnancsfwn ysersmlgyw
      781 stqgcrlves nkthttcacs hltnfavlma hreiyqgrin elllsvitwv givislvcla
      841 icistfcflr glqtdrntih knlcinlfla ellflvgidk tqyeiacpif agllhyffla
      901 afswlclegv hlylllvevf eseysrtkyy ylggycfpal vvgiaaaidy rsygtekacw
      961 lrvdnyfiws figpvsfviv vnlvflmvtl hkmirsssvl kpdssrldni kswalgaial
     1021 lfllgltwaf gllfinkesv vmaylfttfn afqgvfifvf hcalqkkvhk eyskclrhsy
     1081 ccirsppggt hgslktsamr sntryytgtq srirrmwndt vrkqtessfm agdinstptl
     1141 nrgtmgnhll tnpvlqprgg tspyntliae svgfnpsspp vfnspelepg lafrahpclf
     1201 sslfwlppag syrepkhplg greacgmdtl plngnfnnsy slrsgdfppg dggpepprgr
     1261 nladaaafek miiselvhnn lrgsssaakg ppppeppvpp vpggggeeea ggpggadrae
     1321 iellykalee plllpraqsv lyqsdldese sctaedgats rplssppgrd slyasganlr
     1381 dspsypdssp egpsealppp ppappgppei yytsrppalv arnplqgyyq vrrpshegyl
     1441 aapglegpgp dgdgqmqlvt sl
//
LOCUS       XP_006723261             452 aa            linear   PRI 20-MAR-2023
DEFINITION  interferon regulatory factor 3 isoform X1 [Homo sapiens].
ACCESSION   XP_006723261
VERSION     XP_006723261.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006723198.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..452
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..452
                     /product="interferon regulatory factor 3 isoform X1"
                     /calculated_mol_wt=49004
     Region          7..110
                     /region_name="IRF"
                     /note="Interferon regulatory factor transcription factor;
                     pfam00605"
                     /db_xref="CDD:425772"
     Site            order(40,79,81..82,85)
                     /site_type="other"
                     /note="DNA sequence recognition sites [nucleotide
                     binding]"
                     /db_xref="CDD:238051"
     Site            order(84..85,87,90)
                     /site_type="metal-binding"
                     /db_xref="CDD:238051"
     Region          202..>326
                     /region_name="IRF-3"
                     /note="Interferon-regulatory factor 3; pfam10401"
                     /db_xref="CDD:431258"
     CDS             1..452
                     /gene="IRF3"
                     /gene_synonym="IIAE7"
                     /coded_by="XM_006723198.2:195..1553"
                     /db_xref="GeneID:3661"
                     /db_xref="HGNC:HGNC:6118"
                     /db_xref="MIM:603734"
ORIGIN      
        1 mgtpkprilp wlvsqldlgq legvawvnks rtrfripwkh glrqdaqqed fgifqawaea
       61 tgayvpgrdk pdlptwkrnf rsalnrkegl rlaedrskdp hdphkiyefv nsgvgdfsqp
      121 dtspdtnggg stsdtqedil dellgnmvla plpdpgppsl avapepcpqp lrspsldnpt
      181 pfpnlgpsen plkrllvpge ewefevtafy rgrqvfqqti scpeglrlvg sevgdrtlpg
      241 wpvtlpdpgm sltdrgvmsy vrhvlsclgg glalwragqw lwaqrlghch tywavseell
      301 pnsghgpdge vpkdkeggvf dlgpfivgsw aprsdylhgr krtlttlcpl vlcggvmapg
      361 pavdqeardg qgcahvpqgl grngpgrgcl lpgeycgpah fqqpptlphl rpvqglpagl
      421 ggghgfpgpw gelsprsswc asnppvphhl nq
//
LOCUS       XP_011525275             310 aa            linear   PRI 20-MAR-2023
DEFINITION  galectin-4 isoform X1 [Homo sapiens].
ACCESSION   XP_011525275
VERSION     XP_011525275.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011526973.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..310
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..310
                     /product="galectin-4 isoform X1"
                     /calculated_mol_wt=34441
     Region          18..147
                     /region_name="GLECT"
                     /note="Galectin/galactose-binding lectin. This domain
                     exclusively binds beta-galactosides, such as lactose, and
                     does not require metal ions for activity. GLECT domains
                     occur as homodimers or tandemly repeated domains. They are
                     developmentally regulated and may...; cd00070"
                     /db_xref="CDD:238025"
     Site            order(19..23,143..147)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238025"
     Site            19..23
                     /site_type="active"
                     /note="dimerization swap strand [active]"
                     /db_xref="CDD:238025"
     Site            order(28..30,33,36,106..108,113,115,118)
                     /site_type="other"
                     /note="putative alternate dimerization interface
                     [polypeptide binding]"
                     /db_xref="CDD:238025"
     Site            order(63,65,67,75,77,84,87,89)
                     /site_type="other"
                     /note="sugar binding pocket [chemical binding]"
                     /db_xref="CDD:238025"
     Site            order(181..185,304..309)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238025"
     Site            181..185
                     /site_type="active"
                     /note="dimerization swap strand [active]"
                     /db_xref="CDD:238025"
     Region          186..309
                     /region_name="Gal-bind_lectin"
                     /note="Galactoside-binding lectin; smart00908"
                     /db_xref="CDD:214904"
     Site            order(190..192,195,198,266..268,273,275,278)
                     /site_type="other"
                     /note="putative alternate dimerization interface
                     [polypeptide binding]"
                     /db_xref="CDD:238025"
     Site            order(223,225,227,234,236,243,246,248)
                     /site_type="other"
                     /note="sugar binding pocket [chemical binding]"
                     /db_xref="CDD:238025"
     CDS             1..310
                     /gene="LGALS4"
                     /gene_synonym="GAL4; L36LBP"
                     /coded_by="XM_011526973.3:60..992"
                     /db_xref="GeneID:3960"
                     /db_xref="HGNC:HGNC:6565"
                     /db_xref="MIM:602518"
ORIGIN      
        1 mayvpapgyq ptynptlpyy qpipgglnvg msvyiqgvas ehmkrffvnf vvgqdpgsdv
       61 afhfnprfdg wdkvvfntlq ggkwgseerk rsmpfkkgaa felvfivlae hykvvvngnp
      121 fyeyghrlpl qmvthlqvdg dlqlqsinfi ggqplrpqgp pmmppyptme gpptfnppvp
      181 yfgrlqgglt arrtiiikgy vpptgksfai nfkvgssgdi alhinprmgn gtvvrnslln
      241 gswgseekki thnpfgpgqf fdlsircgld rfkvyangqh lfdfahrlsa fqrvdtleiq
      301 gdvtlsyvqi
//
LOCUS       XP_024307375             175 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 302 isoform X6 [Homo sapiens].
ACCESSION   XP_024307375
VERSION     XP_024307375.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024451607.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..175
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..175
                     /product="zinc finger protein 302 isoform X6"
                     /calculated_mol_wt=19513
     Region          48..108
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     CDS             1..175
                     /gene="ZNF302"
                     /gene_synonym="HSD16; MST154; MSTP154; ZNF135L; ZNF140L;
                     ZNF327"
                     /coded_by="XM_024451607.2:495..1022"
                     /db_xref="GeneID:55900"
                     /db_xref="HGNC:HGNC:13848"
ORIGIN      
        1 msqrqypecy lapngclvsn cgvnkmsnee lvgqnhgmeg eactggdvtf sdvaidfshe
       61 ewacldsaqr dlykdvmvqn yenlvsvgls vtkpyvimll edgkepwmme kklskaypfp
      121 lshsvpasvn fgfsalfehc sevteifels elcvfwvlhf lsnspnstve affkk
//
LOCUS       XP_005246678             609 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor subfamily 4 group A member 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_005246678
VERSION     XP_005246678.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005246621.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..609
                     /product="nuclear receptor subfamily 4 group A member 2
                     isoform X1"
                     /calculated_mol_wt=67776
     Region          272..346
                     /region_name="NR_DBD_NGFI-B"
                     /note="DNA-binding domain of the orphan nuclear receptor,
                     nerve growth factor-induced-B; cd06969"
                     /db_xref="CDD:143527"
     Site            order(274,277,291,294,310,316,326,329)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143527"
     Site            order(283..286,292..293,295,297,299..300,323..324,327,330,
                     343..345)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143527"
     Region          372..609
                     /region_name="NR_LBD_Nurr1"
                     /note="The ligand binding domain of Nurr1, a member of
                     conserved family of nuclear receptors; cd07071"
                     /db_xref="CDD:132756"
     Site            order(381,384,387,510)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:132756"
     Site            order(426,429,433,438,443..444,446..447,450..451,598,601,
                     605)
                     /site_type="active"
                     /note="putative coactivator recognition site [active]"
                     /db_xref="CDD:132756"
     CDS             1..609
                     /gene="NR4A2"
                     /gene_synonym="HZF-3; IDLDP; NOT; NURR1; RNR1; TINUR"
                     /coded_by="XM_005246621.5:212..2041"
                     /db_xref="GeneID:4929"
                     /db_xref="HGNC:HGNC:7981"
                     /db_xref="MIM:601828"
ORIGIN      
        1 mnedrrgell tmpcvqaqyg sspqgaspas qsysyhssge yssdfltpef vkfsmdltnt
       61 eitattslps fstfmdnyst gydvkppcly qmplsgqqss ikvediqmhn yqqhshlppq
      121 seemmphsgs vyykpssppt pttpgfqvqh spmwddpgsl hnfhqnyvat thmieqrktp
      181 vsrlslfsfk qsppgtpvss cqmrfdgplh vpmnpepags hhvvdgqtfa vpnpirkpas
      241 mgfpglqigh asqlldtqvp sppsrgspsn eglcavcgdn aacqhygvrt cegckgffkr
      301 tvqknakyvc lankncpvdk rrrnrcqycr fqkclavgmv kevvrtdslk grrgrlpskp
      361 kspqepspps ppvslisalv rahvdsnpam tsldysrfqa npdyqmsgdd tqhiqqfydl
      421 ltgsmeiirg waekipgfad lpkadqdllf esaflelfvl rlayrsnpve gklifcngvv
      481 lhrlqcvrgf gewidsivef ssnlqnmnid isafsciaal amvterhglk epkrveelqn
      541 kivnclkdhv tfnngglnrp nylskllgkl pelrtlctqg lqrifylkle dlvpppaiid
      601 klfldtlpf
//
LOCUS       XP_005260493             496 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein PLAGL2 isoform X1 [Homo sapiens].
ACCESSION   XP_005260493
VERSION     XP_005260493.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005260436.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..496
                     /product="zinc finger protein PLAGL2 isoform X1"
                     /calculated_mol_wt=54453
     Region          70..92
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(70,75,88,92)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(77,79,81,83..84,87..88,91,105,107,111..112,115..116,
                     119,134,136,138,140..141,144..145,148)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          85..107
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          98..120
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          100..120
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          129..149
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          158..178
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(158,161,174,178)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(163,165,167,169..170,173..174,177,198,200,204..205,
                     208..209,212,226,228,230,232..233,236..237)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          193..213
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          221..239
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..496
                     /gene="PLAGL2"
                     /gene_synonym="ZNF900"
                     /coded_by="XM_005260436.4:1718..3208"
                     /db_xref="GeneID:5326"
                     /db_xref="HGNC:HGNC:9047"
                     /db_xref="MIM:604866"
ORIGIN      
        1 mttfftsvpp wiqdakqeee vgwklvprpr greaesqvkc qceisgtpfs ngeklrphsl
       61 pqpeqrpysc pqlhcgkafa skyklyrhma thsaqkphqc mycdkmfhrk dhlrnhlqth
      121 dpnkealhcs ecgknyntkl gyrrhlamha assgdlsckv clqtfestqa llehlkahsr
      181 rvaggakekk hpcdhcdrrf ytrkdvrrhl vvhtgrkdfl cqycaqrfgr kdhltrhvkk
      241 shsqellkik tepvdmlgll scsstvsvke elspvlcmas rdvmgtkafp gmlpmgmyga
      301 hiptmpstgv phslvhntlp mgmsypless pisspaqlpp kyqlgstsyl pdklpkvevd
      361 sflaelpgsl slssaepqpa spqpaaaaal ldeallaksp anlsealcaa nvdfshllgf
      421 lplnlppcnp pgatgglvmg ysqaeaqpll ttlqaqpqds pgaggplnfg plhslppvft
      481 sglssttlpr fhqafq
//
LOCUS       XP_047296548             483 aa            linear   PRI 20-MAR-2023
DEFINITION  ectonucleoside triphosphate diphosphohydrolase 6 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047296548
VERSION     XP_047296548.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440592.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..483
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..483
                     /product="ectonucleoside triphosphate diphosphohydrolase 6
                     isoform X2"
                     /calculated_mol_wt=52987
     Region          94..476
                     /region_name="NBD_sugar-kinase_HSP70_actin"
                     /note="Nucleotide-Binding Domain of the sugar
                     kinase/HSP70/actin superfamily; cl17037"
                     /db_xref="CDD:450142"
     Site            order(106..109,111,113,223,250..253)
                     /site_type="other"
                     /note="nucleotide binding site [chemical binding]"
                     /db_xref="CDD:212657"
     CDS             1..483
                     /gene="ENTPD6"
                     /gene_synonym="CD39L2; dJ738P15.3; IL-6SAG; IL6ST2;
                     NTPDase-6"
                     /coded_by="XM_047440592.1:239..1690"
                     /db_xref="GeneID:955"
                     /db_xref="HGNC:HGNC:3368"
                     /db_xref="MIM:603160"
ORIGIN      
        1 mkkgiryets rktsyifqpq hgpwqtrmrk isnhgslrva kvayplglcv gvfiyvayik
       61 whratatqaf fsitraapga rwgqqahspl gtaadghevf ygimfdagst gtrvhvfqft
      121 rppretptlt hetfkalkpg lsayaddvek saqgirelld vakqdipfdf wkatplvlka
      181 taglrllpge kaqkllqkvk kvfkaspflv gddcvsimng tdegvsawit infltgslkt
      241 pggssvgmld lgggstqiaf lprvegtlqa sppgyltalr mfnrtyklys ysylglglms
      301 arlailggve gqpakdgkel vspclspsfk gewehaevty rvsgqkaaas lhelcaarvs
      361 evlqnrvhrt eevkhvdfya fsyyydlaag vglidaekgg slvvgdfeia akyvcrtlet
      421 qpqsspfscm dltyvslllq efgfprskvl kltrkidnve tswalgaifh yidslnrqks
      481 pas
//
LOCUS       XP_047303725             980 aa            linear   PRI 20-MAR-2023
DEFINITION  FERM domain-containing protein 4B isoform X5 [Homo sapiens].
ACCESSION   XP_047303725
VERSION     XP_047303725.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447769.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..980
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..980
                     /product="FERM domain-containing protein 4B isoform X5"
                     /calculated_mol_wt=111504
     Region          3..91
                     /region_name="FERM_F1_FRMD4B"
                     /note="FERM (Four.1 protein, Ezrin, Radixin, Moesin)
                     domain, F1 sub-domain, found in FERM domain-containing
                     protein 4B (FRMD4B); cd17200"
                     /db_xref="CDD:340720"
     Region          21..206
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          202..312
                     /region_name="FERM_C_FRMD4A_FRMD4B"
                     /note="FERM domain C-lobe of FERM domain-containing
                     protein 4A and 4B (FRMD4A and 4B); cd13191"
                     /db_xref="CDD:270012"
     Site            order(210,227,229,238)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270012"
     Site            order(242,247..250,293,297,300..301)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270012"
     Site            293..304
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270012"
     Region          341..475
                     /region_name="DUF3338"
                     /note="Domain of unknown function (DUF3338); pfam11819"
                     /db_xref="CDD:432099"
     CDS             1..980
                     /gene="FRMD4B"
                     /gene_synonym="6030440G05Rik; GRSP1"
                     /coded_by="XM_047447769.1:252..3194"
                     /db_xref="GeneID:23150"
                     /db_xref="HGNC:HGNC:24886"
                     /db_xref="MIM:617467"
ORIGIN      
        1 mtegrhcqvh llddrrlell vqpkllarel ldlvashfnl kekeyfgitf iddtgqqnwl
       61 qldhrvldhd lpkkpgptil hfavrfyies isflkdkttv elfflnakac vhkgqieves
      121 etifklaafi lqeakgdyts denarkdlkt lpafptktlq ehpslayced rviehylkik
      181 gltrgqavvq ymkivealpt ygvhyyavkd kqglpwwlgi sykgigqydi qdkvkprklf
      241 qwkqlenlyf rekkfavevh dprrisvsrr tfgqsglfvq twyansslik siwvmaisqh
      301 qfyldrkqsk akipsarsld eiamdltetg tqrasklvtl etksqfimas ngslissgsq
      361 dsevseeqkr ekilelkkke kllqekllkk veelkkiclr eaeltgkmpk eyplnigekp
      421 pqvrrrvgta fklddnllps eedpalqele snfliqqklv eaakklanep dlcktvkkkr
      481 kqdytdamkk lqeienaine yrircgkkps qkatvlpedi ipsessslsd tttyddpsda
      541 ftfpgqrsss vphsprilpp kslgierihf rkssineqfv dtrqsremls thsspyktle
      601 rrpqggrsmp ttpvltrnay ssshlepess sqhcrqrsgs lesqshllse mdsdkpffsl
      661 sksqrssste ilddgssyts qssteyycvt pvtgpyyttq tldtrtrgrr rskkqnvsts
      721 nsgsmpnlaq kdslrngvys ksqeppsssy yiagytpyae cdfyysggyv yendtegqys
      781 vnpsyrssah ygyerqrdys rsfhedevdr vphnpyatlr lprkaaakse hitknihkal
      841 vaehlrgwyq rasgqkdqgh spqtsfdsdr gsqrclgfag lqvpcspssr assyssvsst
      901 nasgnwrtql tiglsdyetp ahssytscyg nvynplpsps rqyteisqld gtdgnqledn
      961 lesseqrlfw hedskpgtlv
//
LOCUS       XP_005265446             758 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF9 isoform X2 [Homo sapiens].
ACCESSION   XP_005265446
VERSION     XP_005265446.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005265389.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..758
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..758
                     /product="kinesin-like protein KIF9 isoform X2"
                     /calculated_mol_wt=86149
     Region          39..371
                     /region_name="KISc_KIF9_like"
                     /note="Kinesin motor domain, KIF9-like subgroup; cd01375"
                     /db_xref="CDD:276826"
     Site            order(47,126,129,131..134,278)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276826"
     Site            order(326,329,332)
                     /site_type="other"
                     /note="microtubule interaction site [polypeptide binding]"
                     /db_xref="CDD:276826"
     CDS             1..758
                     /gene="KIF9"
                     /coded_by="XM_005265389.5:208..2484"
                     /db_xref="GeneID:64147"
                     /db_xref="HGNC:HGNC:16666"
                     /db_xref="MIM:607910"
ORIGIN      
        1 matmytarqp rvgsaggfgc gsrvpgaslp germgtrkkv hafvrvkptd dfahemiryg
       61 ddkrsidihl kkdirrgvvn nqqtdwsfkl dgvlhdasqd lvyetvakdv vsqaldgyng
      121 timcygqtga gktytmmgat enykhrgilp ralqqvfrmi eerpthaitv rvsyleiyne
      181 slfdllstlp yvgpsvtpmt ivenpqgvfi kglsvhltsq eedafsllfe getnriiash
      241 tmnknssrsh ciftiyleah srtlseekyi tskinlvdla gserlgksgs egqvlkeaty
      301 inkslsfleq aiialgdqkr dhipfrqckl thalkdslgg ncnmvlvtni ygeaaqleet
      361 lsslrfasrm klvttepain ekydaermvk nlekelallk qelaihdslt nrtfvtydpm
      421 deiqiaeins qvrrylegtl deidiislrq ikevfnqfrv vlsqqeqeve stlrrkytli
      481 drndfaaisa iqkaglvdvd ghlvgepegq nfglgvapfs tkpgkkaksk ktfkeplrpd
      541 tppskpvafe efkneqgsei nrifkenksi lnerrkrase ttqhinaikr eidvtkealn
      601 fqkslrekqg kyenkglmii deeefllilk lkdlkkqyrs eyqdlrdlra eiqycqhlvd
      661 qcrhrllmef diwynesfvi pedmqmalkp ggsirpgmvp vnrivslged dqdkfsqlqq
      721 rvlpegpdsi sfynakvkie qkhnylktmm glqqahrk
//
LOCUS       XP_047305228            1507 aa            linear   PRI 20-MAR-2023
DEFINITION  DDB1- and CUL4-associated factor 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047305228
VERSION     XP_047305228.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449272.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1507
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1507
                     /product="DDB1- and CUL4-associated factor 1 isoform X1"
                     /calculated_mol_wt=168877
     Region          1093..1311
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          1097..1133
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1139..1221
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1262..1292
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..1507
                     /gene="DCAF1"
                     /gene_synonym="RIP; VPRBP"
                     /coded_by="XM_047449272.1:249..4772"
                     /db_xref="GeneID:9730"
                     /db_xref="HGNC:HGNC:30911"
                     /db_xref="MIM:617259"
ORIGIN      
        1 mttvvvhvds kaelttlleq wekehgsgqd mvpiltrmsq lieketeeyr kgdpdpfddr
       61 hpgradpecm lghllrilfk nddfmnalvn ayvmtsrepp lntaacrlll dimpgletav
      121 vfqekegive nlfkwaread qplrtystgl lggamenqdi aanyrdensq lvaivlrrlr
      181 elqlqevalr qenkrpsprk lssepllpld eeavdmdygd mavdvvdgdq eeasgdmeis
      241 fhldsghkts srvnsttkpe dgglkknksa kqgdrenfrk akqklgfsss dpdrmfvels
      301 nsswsemspw vigtnytlyp mtpaieqrli lqyltplgey qellpifmql gsrelmmfyi
      361 dlkqtndvll tfealkhlas lllhnkfate fvahggvqkl leiprpsmaa tgvsmclyyl
      421 synqdamerv cmhphnvlsd vvnytlwlme cshasgccha tmffsicfsf ravlelfdry
      481 dglrrlvnli stleilnled qgallsddei fasrqtgkht cmalrkyfea hlaikleqvk
      541 qslqrteggi lvhpqppyka csytheqive mmeflieygp aqlywepaev flklscvqll
      601 lqlisiacnw ktyyarndtv rfaldvlail tvvpkiqlql aesvdvldea gstvstvgis
      661 iilgvaegef fihdaeiqks alqiiincvc gpdnrissig kfisgtprrk lpqnpksseh
      721 tlakmwnvvq snngikvlls llsikmpitd adqiralack alvglsrsst vrqiisklpl
      781 fsscqiqqlm kepvlqdkrs dhvkfckyaa eliervsgkp lligtdvsla rlqkadvvaq
      841 srisfpekel lllirnhlis kglgetatvl tkeadlpmta ashssaftpv taaaspvslp
      901 rtpriangia trlgshaavg asapsaptah pqprppqgpl alpgpsyagn spligrisfi
      961 rerpspcngr kirvlrqksd hgaysqspai kkqldrhlps pptldsiite ylreqharck
     1021 npvatcppfs lftphqcpep kqrrqapinf tsrlnrrasf pkyggvdggc fdrhlifsrf
     1081 rpisvfrean edesgftcca fsarerflml gtctgqlkly nvfsgqeeas ynchnsaith
     1141 lepsrdgsll ltsatwsqpl salwgmksvf dmkhsftedh yvefskhsqd rvigtkgdia
     1201 hiydiqtgnk lltlfnpdla nnykrncatf nptddlvlnd gvlwdvrsaq aihkfdkfnm
     1261 nisgvfhpng leviinteiw dlrtfhllht vpaldqcrvv fnhtgtvmyg amlqaddedd
     1321 lmeermkspf gssfrtfnat dykpiatidv krnifdlctd tkdcylavie nqgsmdalnm
     1381 dtvcrlyevg rqrlaedede eedqeeeeqe eedddedddd tddldeldtd qlleaeleed
     1441 dnnenagedg dndfspsdee lanlleeged gededsdade evelilgdtd ssdnsdledd
     1501 iilslne
//
LOCUS       XP_047305894            1518 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor L3 isoform X10 [Homo sapiens].
ACCESSION   XP_047305894
VERSION     XP_047305894.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449938.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1518
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1518
                     /product="adhesion G protein-coupled receptor L3 isoform
                     X10"
                     /calculated_mol_wt=169114
     Region          97..194
                     /region_name="Gal_Rha_Lectin_LPHN3"
                     /note="galactose/rhamnose binding lectin domain found in
                     latrophilin-3 and similar proteins; cd22846"
                     /db_xref="CDD:438703"
     Site            order(99,102,104,107,112..117,132..135,193)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:438703"
     Site            order(105..106,136..137,139..140,142,179,182)
                     /site_type="other"
                     /note="octamer interface [polypeptide binding]"
                     /db_xref="CDD:438703"
     Region          200..456
                     /region_name="OLF"
                     /note="Olfactomedin-like domains; smart00284"
                     /db_xref="CDD:128580"
     Region          553..617
                     /region_name="HormR"
                     /note="Domain present in hormone receptors; smart00008"
                     /db_xref="CDD:214468"
     Region          626..846
                     /region_name="GAIN"
                     /note="GPCR-Autoproteolysis INducing (GAIN) domain;
                     pfam16489"
                     /db_xref="CDD:435371"
     Region          872..924
                     /region_name="GPS"
                     /note="G-protein-coupled receptor proteolytic site domain;
                     smart00303"
                     /db_xref="CDD:197639"
     Region          932..1189
                     /region_name="7tmB2_Latrophilin-3"
                     /note="Latrophilin-3, member of the class B2 family of
                     seven-transmembrane G protein-coupled receptors; cd16005"
                     /db_xref="CDD:320671"
     Region          934..959
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320671"
     Site            order(939,943,985,988..989,992,999,1006,1078..1079,1081,
                     1083,1139,1142,1154,1158)
                     /site_type="other"
                     /note="putative polypeptide ligand binding pocket
                     [polypeptide binding]"
                     /db_xref="CDD:320671"
     Region          968..990
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320671"
     Region          999..1026
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320671"
     Region          1038..1058
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320671"
     Region          1075..1104
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320671"
     Region          1120..1147
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320671"
     Region          1151..1176
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320671"
     Region          1189..1518
                     /region_name="Latrophilin"
                     /note="Latrophilin Cytoplasmic C-terminal region;
                     pfam02354"
                     /db_xref="CDD:426735"
     CDS             1..1518
                     /gene="ADGRL3"
                     /gene_synonym="CIRL3; CL3; LEC3; LPHN3"
                     /coded_by="XM_047449938.1:288..4844"
                     /db_xref="GeneID:23284"
                     /db_xref="HGNC:HGNC:20974"
                     /db_xref="MIM:616417"
ORIGIN      
        1 mwpsqllifm mllapiihgg khserhpala aplrhaersp ggalpprhll qqpaaertaa
       61 hrgqgprgat rgvrgpgaqg aqiaaqafsr apipmavvrr elscesypie lrcpgtdvim
      121 iesanygrtd dkicdsdpaq menircylpd aykimsqrcn nrtqcavvag pdvfpdpcpg
      181 tykylevqye cvpyiflcpg llkgvyqseh lfesdhqsga wckdplqasd kiyympwtpy
      241 rtdtlteyss kddfiagrpt ttyklphrvd gtgfvvydga lffnkertrn ivkfdlrtri
      301 ksgeaiiana nyhdtspyrw ggksdidlav denglwviya teqnngkivi sqlnpytlri
      361 egtwdtaydk rsasnafmic gilyvvksvy edddneatgn kidyiyntdq skdslvdvpf
      421 pnsyqyiaav dynprdnlly vwnnyhvvky sldfgpldsr sgqahhgqvs yisppihlds
      481 elerpsvkgp lgmgstttst tlrtttlspg rsttpsvsgr rnrststpsp avevlddmtt
      541 hlpsassqip aleesceave areimwfktr qgqiakqpcp agtigvstyl clapdgiwdp
      601 qgpdlsncss pwvnhitqkl ksgetaania relaeqtrnh lnagditysv ramdqlvgll
      661 dvqlrnltpg gkdsaarsln klqkrerscr ayvqamvetv nnllqpqaln awrdlttsdq
      721 lraatmllht veesafvlad nllktdivre ntdnikleva rlstegnled lkfpenmghg
      781 stiqlsantl kqngrngeir vafvlynnlg pylstenasm klgtealstn hsvivnspvi
      841 taainkefsn kvyladpvvf tvkhikqsee nfnpncsfws yskrtmtgyw stqgcrlltt
      901 nkthttcscn hltnfavlma hvevkhsdav hdllldvitw vgillslvcl liciftfcff
      961 rglqsdrnti hknlcislfv aellfligin rtdqpiacav faallhfffl aaftwmfleg
     1021 vqlyimlvev fesehsrrky fylvgygmpa livavsaavd yrsygtdkvc wlrldtyfiw
     1081 sfigpatlii mlnviflgia lykmfhhtai lkpesgcldn ikswvigaia llcllgltwa
     1141 fglmyinest vimaylftif nslqgmfifi fhcvlqkkvr keygkclrth ccsgkstess
     1201 igsgktsgsr tpgrystgsq srirrmwndt vrkqsessfi tgdinssasl nregllnnar
     1261 dtsvmdtlpl ngnhgnsysi asgeylsncv qiidrgynhn etalekkilk eltsnyipsy
     1321 lnnhersseq nrnlmnklvn nlgsgredda ivlddatsfn heeslgleli heesdapllp
     1381 prvystenhq phhytrrrip qdhsesffpl ltnehtedlq sphrdslyts mptlagvaat
     1441 esvttstqte pppakcgdae dvyyksmpnl gsrnhvhqlh tyyqlgrgss dgfivppnkd
     1501 gtppegsskg pahlvtsl
//
LOCUS       XP_047272616             648 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription elongation regulator 1 isoform X7 [Homo sapiens].
ACCESSION   XP_047272616
VERSION     XP_047272616.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416660.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..648
                     /product="transcription elongation regulator 1 isoform X7"
                     /calculated_mol_wt=69819
     Region          136..>173
                     /region_name="PRP40"
                     /note="Splicing factor [RNA processing and modification];
                     COG5104"
                     /db_xref="CDD:227435"
     Region          <296..>397
                     /region_name="PRK14971"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237874"
     Region          400..>608
                     /region_name="PRP40"
                     /note="Splicing factor [RNA processing and modification];
                     COG5104"
                     /db_xref="CDD:227435"
     CDS             1..648
                     /gene="TCERG1"
                     /gene_synonym="CA150; TAF2S; Urn1"
                     /coded_by="XM_047416660.1:21..1967"
                     /db_xref="GeneID:10915"
                     /db_xref="HGNC:HGNC:15630"
                     /db_xref="MIM:605409"
ORIGIN      
        1 maerggdgge serfnpgelr maqqqalrfr gpapppnavm rgppplmrpp ppfgmmrgpp
       61 ppprppfgrp pfdpnmppmp ppggipppmg pphlqrppfm pppmssmppp pgmmfppgmp
      121 pvtapgtpal ppteeiwven ktpdgkvyyy nartresawt kpdgvkviqq seltpmlaaq
      181 aqvqaqaqaq aqaqaqaqaq aqaqaqaqaq aqaqaqaqaq aqaqaqaqaq aqaqaqaqaq
      241 aqvqaqvqaq vqaqavgast pttsspapav ststssstps sttsttttat svaqtvstpt
      301 tqdqtpssav svatptvsvs tpaptatpvq tvpqphpqtl ppavphsvpq pttaipafpp
      361 vmvppfrvpl pgmpiplpgv lpgmappivp mihpqvaiaa spatlagata vsewteykta
      421 dgktyyynnr tlestwekpq elkekeklee kikepikeps eeplpmetee edpkeepike
      481 ikeepkeeem teeekaaqka kpvatapipg tpwcvvwtgd ervffynptt rlsmwdrpdd
      541 ligradvdki iqepphkkgm eelkklrhpt ptmlsiqkwq fsmsaikeeq elmeeinede
      601 pvkakkrksq tislsscrsr tmssisfdsl pkllstshlh lwvslssi
//
LOCUS       XP_016864847             387 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM153A isoform X1 [Homo sapiens].
ACCESSION   XP_016864847
VERSION     XP_016864847.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009358.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..387
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..387
                     /product="protein FAM153A isoform X1"
                     /calculated_mol_wt=43552
     Region          215..357
                     /region_name="FAM153"
                     /note="FAM153 family; pfam15722"
                     /db_xref="CDD:434884"
     CDS             1..387
                     /gene="FAM153A"
                     /gene_synonym="NY-REN-7"
                     /coded_by="XM_017009358.2:118..1281"
                     /db_xref="GeneID:285596"
                     /db_xref="HGNC:HGNC:29940"
ORIGIN      
        1 mgcvysccle vccgedeivy prmpgestvc hrerekpity hwyhwhpghi ypriasmedy
       61 dedlvqeass edvlgvhmvd kdterdiemk rqlrrlrelh lystwkkyqe amktslgvpq
      121 cerdegslgk plcppeilse tlpgsvkkrv cfpsedhlee fiaehlpeas nqslltvaha
      181 dagtqtngdl edleehgpgq tvseeatevh tmegdpdtla eflirdvlqe lssyngeeed
      241 peevktslgv pqrgdledle ehvpgqtvse eatgvhmmqv dpatlaksdl edleehvpeq
      301 tvseeatgvh mmqvdpatla kqledstitg shqqmsasps sapaeeatek tkveeevktr
      361 kpkkktrkps kksrwnvlkc wdifnif
//
LOCUS       XP_047273330            2327 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor TFIIIB component B'' homolog isoform X5 [Homo
            sapiens].
ACCESSION   XP_047273330
VERSION     XP_047273330.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417374.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..2327
                     /product="transcription factor TFIIIB component B''
                     homolog isoform X5"
                     /calculated_mol_wt=261384
     Region          293..377
                     /region_name="Myb_DNA-bind_7"
                     /note="Myb DNA-binding like; pfam15963"
                     /db_xref="CDD:435039"
     Region          <824..>1336
                     /region_name="PRK02224"
                     /note="DNA double-strand break repair Rad50 ATPase"
                     /db_xref="CDD:179385"
     CDS             1..2327
                     /gene="BDP1"
                     /gene_synonym="DFNB112; HSA238520; TAF3B1; TFC5; TFIIIB'';
                     TFIIIB150; TFIIIB90; TFNR"
                     /coded_by="XM_047417374.1:228..7211"
                     /db_xref="GeneID:55814"
                     /db_xref="HGNC:HGNC:13652"
                     /db_xref="MIM:607012"
ORIGIN      
        1 mfrrarlsvk pnvrpgvgar gstasnpqrg resprppdpa tdsaskpaep tdvptvdfgg
       61 aepqekaprs stektggdnd veessrssst vsqrrkriss tsslvkssvs vpseshplst
      121 inqeapqpta tstkekqpcs dryriykaqk lremlkeelr kekkqwknky ainesqrppd
      181 rskmtmrdfi yylpdnnpmt ssleqekkte kpstpvqtre qegkstpnae dnemeeetdd
      241 gpllvprvkv aedgsiilde esltvevlrt kgpcvveend pifergsttt yssfrknyys
      301 kpwsnketdm fflaismvgt dfsmigqlfp hrarieiknk fkreektngw ridkafqekr
      361 pfdfdffahl lqkvlaeeek rkqksvknhs lkekkstkpr knvkvkkvac egvnndpdes
      421 mssrisdter sqkdaqtvee esltlsreda eqvalevdln qkkrrrkkqd ganelgvnnl
      481 lenatvqagp skgekhknkc qairpelkeg ecskeqmlsc tqnidgivgf astekvekrt
      541 dpilslsnqq datsvatess esstsdlpsf evgiralcev nnaegsciee rnvdlknnsl
      601 eidqtenvkp mlrgrfqrpk pnlsragkks vlsqgktese sknshsktsv eknhvekdkm
      661 ntldilrmet terenpeaet vsvlgekncl qegsqlkalr pvqvrgrlqk pkpnagkaae
      721 rkeilisqee iganveknen escadrdtpq hmedqsrkdf eeedvilqpe kndsfqnvqp
      781 depkvlnecl svqennkank lnqvpilrtr fqkpkpnigr gtgrreissk eevlekilvs
      841 gemaaalret vrldtspkem vpaeintkem qsdlketgrr aisprekild viddtiemet
      901 glkamgreic lrektpevid ateeidkdle eagrreispq kngpeevkpl gevetdlkat
      961 gnessprekt pevtdateei dknleetgrr kisprengpe evkpvdemet dlnatgress
     1021 prektpevid ateeidleet erevspqeng leevkplgem etdlkatgrd sfprgktpev
     1081 idaieeieid leetereisp qengleevkp lgemqtdlka tgreisprek tpevidatee
     1141 idkdleetgr reispeengp eevkpvdeme tdlkttgreg ssrektrevi daaevietdl
     1201 eetereispq engpeevkpv gkmetdlkei reeisqrekv laefsairek eidlketgkr
     1261 dipimekvsg kmavveemea dlketgkenf rergseeicv teekvaelkq tgktdispre
     1321 neleetstsr qtdthlmqsg sndfsavpsl diqnissevl smmhtpveek rnsekevssh
     1381 fshfkissqt hesdktevqg iqspdvpeqf sdinlskslp qeqkpleikp apfvrsrfkr
     1441 pkpnlaraal kretteseky iyekksetkk metivmqenn eqtdtlpsqh deaslmisre
     1501 kdtlghrnee avilpctqte rnlspsnsce pkeesqsapv qkndsvvsvg tnnvntfqqe
     1561 mkesviqtar qvrgrlqrpr pnirktgqrq ivdkgeakgi ikegrtilpk detekkvltv
     1621 snsqieteie vpssavpehr myenqsqvvl venlhvnktn etirhenkpy vpssaqmtrr
     1681 kfqkakpnlg rahskkeepv lekvttdqsk egkpedhllq kgasntqlll kekaelltsl
     1741 evsarkdcvg skesalakid aeleevgpsr rvgeetvgdn spssvveeqy lnkltscpqp
     1801 lnetsyskia ldgkttisst seyernrger rshkkfkpnv trgrgskrvr gktskkepra
     1861 skamlvtlra sqeedddadd fesdyeeesy hlapeevnka pvfvpvglrs pepvsaqiee
     1921 tmeeleitvn vpdvgciavv ehelpntdvt teemkqeenl svpfemttse hiqdepgtnd
     1981 gsteaaitll tmgdlvlqse isseqgdvgv ciiphvhskd kshipssldn vnhkivhecq
     2041 elsspvitts pasfeenkiv leeqssreei slmekvkena tptrntiskv tsnlrirsrl
     2101 akpkpnlekt lgtnrlddyq evsslcvtkg aemetqrete knaskatele nknlgpvtta
     2161 enkdqsklac vhgikgtsis sevnlterne nqeessqevh mlsvapvass etgpctlgld
     2221 rglgensvee pqikdskgds vltlpvpeyt ptsipevqqe niinpqdltv fvyqqlqlvk
     2281 mpwvylflee iilksrliiw ilylgrdfna glikmttfll pknvhsl
//
LOCUS       XP_047273900             816 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger FYVE domain-containing protein 16 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047273900
VERSION     XP_047273900.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417944.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..816
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..816
                     /product="zinc finger FYVE domain-containing protein 16
                     isoform X4"
                     /calculated_mol_wt=89044
     Region          738..804
                     /region_name="FYVE_endofin"
                     /note="FYVE domain found in endofin and similar proteins;
                     cd15729"
                     /db_xref="CDD:277268"
     Site            order(744,747,765..770,772..773,795..797)
                     /site_type="other"
                     /note="putative phosphatidylinositol 3-phosphate binding
                     site [chemical binding]"
                     /db_xref="CDD:277268"
     CDS             1..816
                     /gene="ZFYVE16"
                     /gene_synonym="PPP1R69"
                     /coded_by="XM_047417944.1:130..2580"
                     /db_xref="GeneID:9765"
                     /db_xref="HGNC:HGNC:20756"
                     /db_xref="MIM:608880"
ORIGIN      
        1 mdsyfkaavs dldkllddfe qnpdeqdylq dvqnaydsnh csvsselass qrtsllpkdq
       61 ecvnscasse tsygtnessl nektlkglts iqneknvtgl dllssvdggt sdeiqplymg
      121 rcskpicdli sdmgnlvhat nseedikkll pddfksnads ligldlssvs dtpcvsstdh
      181 dsdtvreqqn disselqnre iggikelgik vdttlsdsyn ysgtenlkdk kifnqlesiv
      241 dfnmssaltr qsskmfhakd klqhksqpcg llkdvglvke evdvavitaa eclkeegkts
      301 altcslpkne dlclndsnsr denfklpdfs fqedktvikq saqedsksld lkdndviqds
      361 ssalhvsskd vpsslsclpa sgsmcgslie skargdflpq hehkdniqda vtiheeiqns
      421 vvlggepfke ndllkqekck sillqslieg medrkidpdq tviraesldg gdtsstvves
      481 qeglsgthvp essdccegfi ntfssndmdg qdldyfnide gaksgplisd aeldaflteq
      541 ylqttniksf eenvndsksq mnqidmkgld dgninniyfn aeagaigesh giniiceivd
      601 kqntiengls lgekstipvq qglptsksei tnqlsvsdin sqsvggarpk qlfslpsrtr
      661 sskdlnkpdv pdtiesepst adtvvpitca idstadpqvs fnsnyidies nseggssfvt
      721 anedsvpent ckeglvlgqk qptwvpdsea pncmncqvkf tftkrrhhcr acgkvfcgvc
      781 cnrkcklqyl ekearvcvvc yetiskgkdl vlnyla
//
LOCUS       XP_016865855             442 aa            linear   PRI 20-MAR-2023
DEFINITION  ephrin type-A receptor 7 isoform X2 [Homo sapiens].
ACCESSION   XP_016865855
VERSION     XP_016865855.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017010366.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..442
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..442
                     /product="ephrin type-A receptor 7 isoform X2"
                     /calculated_mol_wt=49496
     Region          30..206
                     /region_name="EphR_LBD_A7"
                     /note="Ligand Binding Domain of Ephrin type-A Receptor 7;
                     cd10485"
                     /db_xref="CDD:198453"
     Site            order(56,58..62,69..70,72,74,105,107,112..113,155,
                     159..160,163..165,192..194,196)
                     /site_type="other"
                     /note="ephrin binding site [polypeptide binding]"
                     /db_xref="CDD:198453"
     Region          275..312
                     /region_name="Ephrin_rec_like"
                     /note="Putative ephrin-receptor like; pfam07699"
                     /db_xref="CDD:429604"
     Site            order(332,407,420)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          333..427
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(421..422,424..425)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..442
                     /gene="EPHA7"
                     /gene_synonym="EHK-3; EHK3; EK11; HEK11"
                     /coded_by="XM_017010366.3:219..1547"
                     /db_xref="GeneID:2045"
                     /db_xref="HGNC:HGNC:3390"
                     /db_xref="MIM:602190"
ORIGIN      
        1 mvfqtrypsw iilcyiwllr fahtgeaqaa kevllldska qqtelewiss ppngweeisg
       61 ldenytpirt yqvcqvmepn qnnwlrtnwi skgnaqrifv elkftlrdcn slpgvlgtck
      121 etfnlyyyet dydtgrnire nlyvkidtia adesftqgdl gerkmklnte vreigplskk
      181 gfylafqdvg acialvsvkv yykkcwsiie nlaifpdtvt gsefsslvev rgtcvssaee
      241 eaenaprmhc saegewlvpi gkcickagyq qkgdtcepcg rgfyksssqd lqcsrcpths
      301 fsdkegssrc ecedgyyrap sdppyvactr ppsapqnlif ninqttvsle wsppadnggr
      361 ndvtyrilck rcsweqgecv pcgsnigymp qqtglednyv tvmdllahan ytfeveavng
      421 vsdlsrsqrl faavsittgq ag
//
LOCUS       XP_016865892            1009 aa            linear   PRI 20-MAR-2023
DEFINITION  protein broad-minded isoform X12 [Homo sapiens].
ACCESSION   XP_016865892
VERSION     XP_016865892.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017010403.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1009
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1009
                     /product="protein broad-minded isoform X12"
                     /calculated_mol_wt=115252
     Region          12..>966
                     /region_name="BROMI"
                     /note="Broad-minded protein; pfam14961"
                     /db_xref="CDD:434350"
     CDS             1..1009
                     /gene="TBC1D32"
                     /gene_synonym="BROMI; C6orf170; C6orf171"
                     /coded_by="XM_017010403.2:51..3080"
                     /db_xref="GeneID:221322"
                     /db_xref="HGNC:HGNC:21485"
                     /db_xref="MIM:615867"
ORIGIN      
        1 mahfssedqa mlqamlrrlf qsvkekitga pslecaeeil lhleetdenf hnyefvkylr
       61 qhigntlgsm ieeemekcts drnqgeecgy dtvvqqvtkr tqeskeykem mhylknimia
      121 vvesminkfe edetrnqerq kkiqkekshs yrtdncsdsd sslnqsykfc qgklqlildq
      181 ldpgqpkevr yealqtlcsa ppsdvlncen wttlcekltv slsdpdpvfs drilkfcaqt
      241 fllsplhmtk eiytslakyl esyflsrenh iptlsagvdi tnpnmtrllk kvrllneyqk
      301 eapsfwirhp ekymeeives tlslltvkhn qshvvsqkil dpiyffalvd tkavwfkkwm
      361 hahysrttvl rlletkyksl vttaiqqcvq yfemcktrka detlghskhc rnkqktfyyl
      421 gqelqyiyfi hslcllgrll iykqgrklfp iklknkkglv slidllvlft qliyyspscp
      481 kmtsaahsen yspasmvtev lwilsdqkec aveclynniv ietllqpihn lmkgneaspn
      541 csetalihia gilariasve eglilllyga nmnsseespt gahiiaqfsk klldedisif
      601 sgsemlpvvk gafisvcrhi ystceglqvl itynlhesia kawkktslls eriptpvegs
      661 dsvssvsqes qnimawednl lddllhfaat pkgllllqrt gainecvtfi fnryakklqv
      721 srhkkfgygv lvtrvastaa ggialkksgf inelitelws nleygrddvr vthprttpvd
      781 pidrscqksf lalvnllsyp aiyelvrnqd lpnkteyslr evptcvidii drliilnsea
      841 kirslfnyeq shifglrlls viccdldtll lleaqyqvse mllnaqeeni leiseshrdf
      901 iidglsvern hvlvrinlvg gplerilppr lleksdnpyp wpmfssyplp ncylsditrn
      961 agikqemgpk nkntifcvsg amqrsviyvq kistsilfgs qqnlriklk
//
LOCUS       XP_011512663             414 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF6 isoform X6 [Homo sapiens].
ACCESSION   XP_011512663
VERSION     XP_011512663.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514361.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..414
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..414
                     /product="kinesin-like protein KIF6 isoform X6"
                     /calculated_mol_wt=46815
     Region          5..343
                     /region_name="Motor_domain"
                     /note="Myosin and Kinesin motor domain; cl22853"
                     /db_xref="CDD:451428"
     Site            order(13..14,97..104,212..213,250..255)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276814"
     CDS             1..414
                     /gene="KIF6"
                     /gene_synonym="C6orf102; dJ1043E3.1; dJ137F1.4; dJ188D3.1"
                     /coded_by="XM_011514361.3:99..1343"
                     /db_xref="GeneID:221458"
                     /db_xref="HGNC:HGNC:21202"
                     /db_xref="MIM:613919"
ORIGIN      
        1 mvkqtiqifa rvkppvrkhq qgiysidede klipsleiil prdladgfvn nkresykfkf
       61 qrifdqdanq etvfeniakp vagsvlagyn gtifaygqtg sgktftitgg aerysdrgii
      121 prtlsyifeq lqkdsskiyt thisyleiyn ecgydlldpr heassledlp kvtiledpdq
      181 nihlknltlh qatteeealn llflgdtnrm iaetpmnqas trshciftih lsskepgsat
      241 vrhaklhlvd lagservakt gvgghlltea kyinlslhyl eqviialsek hrshipyrns
      301 mmtsvlrdsl ggncmttmia tlslekrnld esistcrfaq rvalikneav lneeinprlv
      361 ikrlqkeiqe lkdelamvtg eqrtealtea ellhfiwvlp lkenpqcenv hlwk
//
LOCUS       XP_005249263             200 aa            linear   PRI 20-MAR-2023
DEFINITION  28S ribosomal protein S10, mitochondrial isoform X3 [Homo sapiens].
ACCESSION   XP_005249263
VERSION     XP_005249263.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005249206.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..200
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..200
                     /product="28S ribosomal protein S10, mitochondrial isoform
                     X3"
                     /calculated_mol_wt=22781
     Region          79..172
                     /region_name="Ribosomal_S10"
                     /note="Ribosomal protein S10p/S20e; pfam00338"
                     /db_xref="CDD:425618"
     CDS             1..200
                     /gene="MRPS10"
                     /gene_synonym="MRP-S10; PNAS-122"
                     /coded_by="XM_005249206.4:13..615"
                     /db_xref="GeneID:55173"
                     /db_xref="HGNC:HGNC:14502"
                     /db_xref="MIM:611976"
ORIGIN      
        1 maartafgav crrlwqglgn fsvntskgnt aknggllltn mkwvqfsnlh vdvpkdltkp
       61 vvtisdepdi lykrlsvlvk ghdkavldsy eyfavlaake lgisikvhep prkierftll
      121 qsvhiykkhr vqyemrtlyr clelehltgs tadvyleyiq rnlpegvame vtktqleqlp
      181 ehikepiwet lseekeesks
//
LOCUS       XP_047276231             629 aa            linear   PRI 20-MAR-2023
DEFINITION  metabotropic glutamate receptor 8 isoform X4 [Homo sapiens].
ACCESSION   XP_047276231
VERSION     XP_047276231.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420275.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..629
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..629
                     /product="metabotropic glutamate receptor 8 isoform X4"
                     /calculated_mol_wt=70902
     Region          <1..225
                     /region_name="Periplasmic_Binding_Protein_type1"
                     /note="Type 1 periplasmic binding fold superfamily;
                     cl10011"
                     /db_xref="CDD:447875"
     Region          233..283
                     /region_name="NCD3G"
                     /note="Nine Cysteines Domain of family 3 GPCR; pfam07562"
                     /db_xref="CDD:429539"
     Region          303..613
                     /region_name="7tmC_mGluR8"
                     /note="metabotropic glutamate receptor 8 in group 3,
                     member of the class C family of seven-transmembrane G
                     protein-coupled receptors; cd15454"
                     /db_xref="CDD:320570"
     Region          303..328
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320570"
     Site            order(306,309..310,313..314,316..317,351,355,358..359,367,
                     371)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:320570"
     Region          340..361
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320570"
     Site            order(360,372..373,376..377,380,465,470,473..474,477,511,
                     514..515,518,522,535..536,539,542,546)
                     /site_type="other"
                     /note="putative allosteric modulator binding site
                     [chemical binding]"
                     /db_xref="CDD:320570"
     Region          370..394
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320570"
     Region          416..436
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320570"
     Region          466..492
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320570"
     Region          500..523
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320570"
     Region          533..558
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320570"
     CDS             1..629
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /coded_by="XM_047420275.1:168..2057"
                     /db_xref="GeneID:2918"
                     /db_xref="HGNC:HGNC:4600"
                     /db_xref="MIM:601116"
ORIGIN      
        1 mfaneddirr ileaakklnq sghflwigsd swgskiapvy qqeeiaegav tilpkrasid
       61 gfdryfrsrt lannrrnvwf aefweenfgc klgshgkrns hikkctgler iardssyeqe
      121 gkvqfvidav ysmayalhnm hkdlcpgyig lcprmstidg kellgyirav nfngsagtpv
      181 tfnengdapg rydifqyqit nksteykvig hwtnqlhlkv edmqwahreh thpasvcslp
      241 ckpgerkktv kgvpccwhce rcegynyqvd elscelcpld qrpnmnrtgc qlipiiklew
      301 hspwavvpvf vailgiiatt fvivtfvryn dtpivrasgr elsyvlltgi flcysitflm
      361 iaapdtiics frrvflglgm cfsyaalltk tnrihrifeq gkksvtapkf ispasqlvit
      421 fslisvqllg vfvwfvvdpp hiiidygeqr tldpekargv lkcdisdlsl icslgysill
      481 mvtctvyaik trgvpetfne akpigftmyt tciiwlafip iffgtaqsae kmyiqtttlt
      541 vsmslsasvs lgmlympkvy iiifhpeqnv qkrkrsfkav vtaatmqskl iqkgndrpng
      601 evkselcesl etntsstktt yisysnhsi
//
LOCUS       XP_047278446             737 aa            linear   PRI 20-MAR-2023
DEFINITION  protein MTSS 1 isoform X18 [Homo sapiens].
ACCESSION   XP_047278446
VERSION     XP_047278446.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422490.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..737
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..737
                     /product="protein MTSS 1 isoform X18"
                     /calculated_mol_wt=80109
     Region          7..237
                     /region_name="I-BAR_IMD_MIM"
                     /note="Inverse (I)-BAR, also known as the IRSp53/MIM
                     homology Domain (IMD), of Missing In Metastasis; cd07643"
                     /db_xref="CDD:153327"
     Site            order(18..19,22,26,29..30,32..33,36..37,40,43..44,46..47,
                     51,53..54,57..58,60..61,64..65,68..69,72,75,79,86,89,185,
                     188..189,191..192,195..196,198..199,202..203,206,209..210,
                     213,216,219..220,226..227,229..237)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153327"
     Site            order(149..150,152..153)
                     /site_type="other"
                     /note="putative actin binding residues [polypeptide
                     binding]"
                     /db_xref="CDD:153327"
     Region          <325..707
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          706..736
                     /region_name="WH2_MTSS1"
                     /note="Wiskott Aldrich syndrome homology region 2 (WH2
                     motif) found in Metastasis suppressor protein 1 (MTSS-1);
                     cd22060"
                     /db_xref="CDD:409203"
     Site            order(707..709,712..714,716..718,723..732,734..735)
                     /site_type="other"
                     /note="actin-binding motif [polypeptide binding]"
                     /db_xref="CDD:409203"
     Region          723..726
                     /region_name="actin-binding sequence"
                     /note="actin-binding sequence [structural motif]"
                     /db_xref="CDD:409203"
     CDS             1..737
                     /gene="MTSS1"
                     /gene_synonym="MIM; MIMA; MIMB"
                     /coded_by="XM_047422490.1:519..2732"
                     /db_xref="GeneID:9788"
                     /db_xref="HGNC:HGNC:20443"
                     /db_xref="MIM:608486"
ORIGIN      
        1 meaviekecs algglfqtii sdmkgsypvw edfinkagkl qsqlrttvva aaafldafqk
       61 vadmatntrg gtreigsalt rmcmrhrsie aklrqfssal idclinplqe qmeewkkvan
      121 qldkdhakey kkarqeikkk ssdtlklqkk akkgrgdiqp qldsalqdvn dkyllleete
      181 kqavrkalie ergrfctfis mlrpvieeei smlgeithlq tisedlkslt mdphklpsss
      241 eqvildlkgs dyswsyqtpp sspsttmsrk ssvcslnsvn ssdsrssgsh shspsshyry
      301 rssnlaqqap vrlssvsshd sgfisqdafq skspspmppe apnqlsngfs hyslsseshv
      361 gptgaglfph clpasrllpr vtsvhlpdya hyytigpgmf pssqipswkr rkekrepdpn
      421 gggpttasgp paaaeeaqrp rsmtvsaatr pgeemeacee lalalsrglq ldtqrssrds
      481 lqcssgystq tttpccsedt ipsqvsdydy fsvsgdqead qqefdkssti prnsdisqsy
      541 rrmfqakrpa staglpttlg pamvtpgvat irrtpstkps vrrgtigagp ipiktpvipv
      601 ktptvpdlpg vlpappdgpe ergehspesp svgegpqgvt smpssmwsgq asvnpplpgp
      661 kpsipeehrq aipeseaedq ereppsatvs pgqipesdpa dlsprdtpqg edmlnairrg
      721 vklkktttnd rsaprfs
//
LOCUS       XP_047279143            1466 aa            linear   PRI 20-MAR-2023
DEFINITION  GTPase-activating protein and VPS9 domain-containing protein 1
            isoform X2 [Homo sapiens].
ACCESSION   XP_047279143
VERSION     XP_047279143.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423187.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1466
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1466
                     /product="GTPase-activating protein and VPS9
                     domain-containing protein 1 isoform X2"
                     /calculated_mol_wt=163746
     Region          84..449
                     /region_name="RasGAP_RAP6"
                     /note="Ras-GTPase Activating Domain of Rab5-activating
                     protein 6; cd05129"
                     /db_xref="CDD:213331"
     Site            order(129,168,170,172..173,179,182,186,304,312..313,
                     316..317,320,342,345..346,349,353,355,359..360)
                     /site_type="other"
                     /note="putative Rab5 interface [polypeptide binding]"
                     /db_xref="CDD:213331"
     Region          1251..1314
                     /region_name="DUF5601"
                     /note="Domain of unknown function (DUF5601); pfam18151"
                     /db_xref="CDD:436311"
     Region          1362..1463
                     /region_name="VPS9"
                     /note="Vacuolar sorting protein 9 (VPS9) domain;
                     pfam02204"
                     /db_xref="CDD:366977"
     CDS             1..1466
                     /gene="GAPVD1"
                     /gene_synonym="GAPex-5; GAPEX5; RAP6"
                     /coded_by="XM_047423187.1:338..4738"
                     /db_xref="GeneID:26130"
                     /db_xref="HGNC:HGNC:23375"
                     /db_xref="MIM:611714"
ORIGIN      
        1 mvkldihtla hhlkqerlyv nsekqliqrl nadvlktaek lyrtawiakq qrinldrlii
       61 tsaeaspaec cqhakiledt qfvdgykqlg fqetaygefl srlrenprli asslvagekl
      121 nqentqsviy tvftslygnc imqedesyll qvlryliefe lkesdnprrl lrrgtcafsi
      181 lfklfseglf saklfltatl hepimqllve dedhletdpn klierfspsq qeklfgekgs
      241 drfrqkvqem vesneaklva lvnkfigylk qntycfphsl rwivsqmykt lscvdrlevg
      301 evramctdll lacficpavv npeqygiisd apinevarfn lmqvgrllqq lamtgseegd
      361 prtksslgkf dkscvaafld vviggravet pplssvnlle glsrtvvyit ysqlitlvnf
      421 mksvmsgdql redrmaldnl lanlppakpg kssslemtpy ntpqlspatt pankknrlpi
      481 atrsrsrtnm lmdlhmdheg ssqetiqevq peevlvislg tgpqltpgmm senevlnmql
      541 sdggqgdvpv denklhgpsn rsnsvssldl egesvselga gpsgsngvea lqlleheqat
      601 tqdnlddklr kfeirdmmgl tddrdisetv setwstdvlg sdfdpnided rlqeiagaaa
      661 enmlgsllcl pgsgsvlldp ctgstisett seawsvevlp sdseapdlkq eerlqelesc
      721 sglgstsddt dvrevssrps tpglsvvsgi satsedipnk iedlrsecss dfggkdsvts
      781 pdmdeithdf lyilqpkqhf qhieaeadmr iqlsssahql tsppsqsesl lamfdplssh
      841 egasavvrpk vhyarpshpp pdppilegav ggnearlpnf gshvltpaem eafkqrhsyp
      901 erlvrsrssd ivssvrrpms dpswnrrpgn eerelppaaa igatslvaap hssssspskd
      961 ssrgeteerk dsddeksdrn rpwwrkrfvs ampkapipfr kkekqekdkd dlgpdrfstl
     1021 tddpsprlsa qaqvaedild kyrnaikrts psdgamanye stevmgdges ahdsprdeal
     1081 qnisaddlpd sasqaahpqd safsyrdakk klrlalcsad svafpvlths trnglpdhtd
     1141 pedneivcfl kvqiaeainl qdknlmaqlq etmrcvcrfd nrtcrkllas iaedyrkrap
     1201 yiayltrcrq glqttqahle rllqrvlrdk evanryfttv cvrllleske kkirefiqdf
     1261 qkltaaddkt aqvedflqfl ygamaqdviw qnaseeqlqd aqlaiersvm nrifklafyp
     1321 nqdgdilrdq vlhehiqrls kvvtanhral qipevylrea pwpsaqseir tisayktprd
     1381 kvqcilrmcs timnllslan edsvpgaddf vpvlvfvlik anppcllstv qyissfyasc
     1441 lsgeesywwm qftaavefik tiddrk
//
LOCUS       XP_006717357            1439 aa            linear   PRI 20-MAR-2023
DEFINITION  microtubule organization protein AKNA isoform X1 [Homo sapiens].
ACCESSION   XP_006717357
VERSION     XP_006717357.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006717294.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1439
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1439
                     /product="microtubule organization protein AKNA isoform
                     X1"
                     /calculated_mol_wt=155009
     Region          598..696
                     /region_name="AKNA"
                     /note="AT-hook-containing transcription factor; pfam12443"
                     /db_xref="CDD:432557"
     Region          <1093..1383
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..1439
                     /gene="AKNA"
                     /coded_by="XM_006717294.2:147..4466"
                     /db_xref="GeneID:80709"
                     /db_xref="HGNC:HGNC:24108"
                     /db_xref="MIM:605729"
ORIGIN      
        1 masseteirw aepglgkgpq rrrwawaedk rdvdrsssqs weeerlfpna tspelledfr
       61 laqqhlpple wdphpqpdgh qdsesgetsg eeaeaedvds passheplaw lpqqgrqldm
      121 teeepdgtlg sleveeages ssrlgyeagl sleghgntsp malghgqarg wvasgeqasg
      181 dklsehsevn psvelspars wssgtvsldh psdsldstwe getdgpqpta laetlpegps
      241 hhllspdgrt ggsvaratpm efqdssappa qspqhatdrw rrettrffcp qpkehiwkqt
      301 ktspkplpsr figsisplnp qprptrqgrp lprqgatlag rsssnapkyg rgqlnyplpd
      361 fskvgprvrf pkdesyrppk srshnrkpqa parplifksp aeivqevlls sgeaalakdt
      421 ppahpitrvp qefqtpeqat elvhqlqedy hrlltkyaea entidqlrlg akvnlfsdpp
      481 qpnhsihtgm vpqgtkvlsf tipqprsaew wpgpaedpqa saasgwpsar gdlspsslts
      541 mptlgwlpen rdisedqssa eqtqalasqa sqflakvesf erliqagrlm pqdqvkgfqr
      601 lkaahaalee eylkacreqh paqplagskg tpgrfdprre leaeiyrlgs cleelkehid
      661 qtqqepeppg sdsaldstpa lpclhqpthl papsgqapmp aiktscpepa tttaaastgp
      721 cplhvnvevs sgnsevedrp qdplarlrhk elqmeqvyhg lmerylsvks lpeamrmeee
      781 eegeeeeeee gggdslevdg vaatpgkaea trvlprqcpv qaekshgapl eeatekmvsm
      841 kppgfqasla rdghmsglgk aeaappgpgv pphppgtksa ashqssmtsl egsgiserlp
      901 qkplhrgggp hleetwmasp etdsgfvgse tsrvspltqt pehrlshist agtlaqpfaa
      961 svprdgasyp kargsliprr atepstprsq aqrylsspsg plrqrapnfs lertlaaema
     1021 vpgsefeghk riseqplpnk tispppapap aaaplpcgpt etipsflltr agrdqaicel
     1081 qeevsrlrlr ledslhqplq gsptrpasaf drpartrgrp adspatwgsh ygsksterlp
     1141 geprgeeqiv ppgrqrarss svprevlrls lsseselpsl plfseksktt kdspqaardg
     1201 krgvgsagwp drvtfrgqyt gheyhvlspk avpkgngtvs cphcrpirtq daggavtgdp
     1261 lgpppadtlq cplcgqvgsp peadgpgsat sgaekattrr kasstpspkq rskqagsspr
     1321 pppglwylat appapappaf ayissvpimp yppaavyyap agptsaqpaa kwpptasppp
     1381 arrhrhsiql dlgdleelnk alsravqaae svrsttrqmr sslsadlrqa hslrgsclf
//
LOCUS       XP_047279940             721 aa            linear   PRI 20-MAR-2023
DEFINITION  aminopeptidase O isoform X5 [Homo sapiens].
ACCESSION   XP_047279940
VERSION     XP_047279940.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423984.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..721
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..721
                     /product="aminopeptidase O isoform X5"
                     /calculated_mol_wt=81671
     Region          <244..553
                     /region_name="GluZincin"
                     /note="Gluzincin Peptidase family (thermolysin-like
                     proteinases, TLPs) which includes peptidases M1, M2, M3,
                     M4, M13, M32 and M36 (fungalysins); cl14813"
                     /db_xref="CDD:449360"
     Region          <607..>633
                     /region_name="Leuk-A4-hydro_C"
                     /note="Leukotriene A4 hydrolase, C-terminal; pfam09127"
                     /db_xref="CDD:430422"
     CDS             1..721
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /coded_by="XM_047423984.1:189..2354"
                     /db_xref="GeneID:84909"
                     /db_xref="HGNC:HGNC:1361"
                     /db_xref="MIM:619600"
ORIGIN      
        1 mdiqldpard dlplmantsh ilvkhyvldl dvdfesqvie gtivlfledg nrfkkqnssi
       61 eeacqsesnk ackfgmpepc hipvtnartf ssemeyndfa icskgekdts dkdgnhdnqe
      121 hasgisssky ccdtgnhgse dfllvldccd lsvlkveevd vaavpglekf trspeltvvs
      181 eefrnqivre lvtlpanrwr eqldyyarcs qapgcgellf dtdtwslqir ktgaqtatdf
      241 phairiwykt kpegrsvtwt sdqsgrpcvy tvgspinnra lfpcqeppva mstwqatvra
      301 aasfvvlmsg ensakptqlw eecsswyyyv tmpmpastft iavgcwtemk metwssndla
      361 terpfspsea nfrhvgvcsh meypcrfqna sattqeiiph rvfapvcltg acqetllrli
      421 ppclsaahsv lgahpfsrld vlivpanfps lgmarpskdk tghtsdsgas vikhglnpek
      481 ifmqvhylkg yfllrflakr lgdetyfsfl rkfvhtfhgq lilsqdflqm llenipeekr
      541 lelsveniyq dwlessgipk plqrerraga ecglarqvra evtkwigvnr rprkrkrrek
      601 eevfekvrhr wcelivkhkf tkayksverf lqedqerpqq dsfirlllaw gtrleltldi
      661 kggimwllkp sahspvhilv llfprgwsqp gthkrqilvn aaslpggcll pwiwsgaalr
      721 f
//
LOCUS       XP_016884822             932 aa            linear   PRI 20-MAR-2023
DEFINITION  dystrophin-related protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_016884822
VERSION     XP_016884822.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029333.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..932
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..932
                     /product="dystrophin-related protein 2 isoform X2"
                     /calculated_mol_wt=104871
     Region          111..339
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            229..234
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          357..385
                     /region_name="WW"
                     /note="Two conserved tryptophans domain; also known as the
                     WWP or rsp5 domain; around 40 amino acids; functions as an
                     interaction module in a diverse set of signalling
                     proteins; binds specific proline-rich sequences but at low
                     affinities compared to other...; cd00201"
                     /db_xref="CDD:238122"
     Site            order(369,380)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          397..558
                     /region_name="EFh_DRP-2"
                     /note="EF-hand-like motif found in dystrophin-related
                     protein 2 (DRP-2); cd16248"
                     /db_xref="CDD:320006"
     Region          397..435
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320006"
     Region          443..477
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320006"
     Region          483..519
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320006"
     Region          532..558
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320006"
     Region          583..631
                     /region_name="ZZ_dystrophin"
                     /note="Zinc finger, ZZ type. Zinc finger present in
                     dystrophin and dystrobrevin. The ZZ motif coordinates two
                     zinc ions and most likely participates in ligand binding
                     or molecular scaffolding. Dystrophin attaches actin
                     filaments to an integral membrane...; cd02334"
                     /db_xref="CDD:239074"
     Site            order(585,588,600,603,609,612,622,626)
                     /site_type="other"
                     /note="Zinc-binding sites [ion binding]"
                     /db_xref="CDD:239074"
     Site            order(585,588,609,612)
                     /site_type="other"
                     /note="zinc cluster 1 [ion binding]"
                     /db_xref="CDD:239074"
     Site            order(586,597,599,605,607)
                     /site_type="active"
                     /note="putative charged binding surface [active]"
                     /db_xref="CDD:239074"
     Site            order(598,613,628,631)
                     /site_type="active"
                     /note="putative hydrophobic binding surface [active]"
                     /db_xref="CDD:239074"
     Site            order(600,603,622,626)
                     /site_type="other"
                     /note="zinc cluster 2 [ion binding]"
                     /db_xref="CDD:239074"
     CDS             1..932
                     /gene="DRP2"
                     /gene_synonym="DRP-2"
                     /coded_by="XM_017029333.2:528..3326"
                     /db_xref="GeneID:1821"
                     /db_xref="HGNC:HGNC:3032"
                     /db_xref="MIM:300052"
ORIGIN      
        1 mqpmvmqgcp ytlprchdwq aadqfhhsss lrstcphpqv raavtspapp qdgagvpcls
       61 lkllngsvga sgpleppamn lcwneikkks hnlrarleaf sdhsgklqlp lqeiidwlsq
      121 kdeelsaqlp lqgdvalvqq ekethaafme evksrgpyiy svlesaqafl sqhpfeelee
      181 phseskdtsp kqriqnlsrf vwkqatvase lwekltarcv dqhrhiertl eqlleiqgam
      241 eelsttlsqa egvratwepi gdlfidslpe hiqaiklfke efspmkdgvk lvndlahqla
      301 isdvhlsmen sqaleqinvr wkqlqasvse rlkqlqdahr dfgpgsqhfl sssvqvpwer
      361 aispnkvpyy inhqaqttcw dhpkmtelyq tlvdlvtltt aleifnehdl qasehvmdvv
      421 evihcltaly erleeergil vnvplcvdms lnwllnvfds grsgkmrals fktgiaclcg
      481 tevkeklqyl fsqvansgsq cdqrhlgvll heaiqvprql gevaafggsn vepsvrscfr
      541 fstgkpviea sqflewvnle pqsmvwlavl hrvtiaeqvk hqtkcsicrq cpikgfryrs
      601 lkqfnvdicq tcfltgrask gnklhypime yytpttssen mrdfattlkn kfrskhyfsk
      661 hpqrgylpvq svleadyset passpmwpha dthsriehfa srlaemesqn csffndslsp
      721 ddsidedqyl lrhsspitdr epafgqqapc svateskgel qkilahlede nrilqgelrr
      781 lkwqheeaae apsladgste aatdhrneel laearilrqh ksrletrmqi ledhnkqles
      841 qlqrlrelll qpptesdgsg sagsslassp qqsegshpre kgqttpdtea addvgsksqd
      901 vslcledime klrhafpsvr ssdvtantll as
//
LOCUS       XP_054186219             904 aa            linear   PRI 20-MAR-2023
DEFINITION  gamma-aminobutyric acid type B receptor subunit 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054186219
VERSION     XP_054186219.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330244.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167245.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..904
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..904
                     /product="gamma-aminobutyric acid type B receptor subunit
                     1 isoform X2"
                     /calculated_mol_wt=101955
     CDS             1..904
                     /gene="GABBR1"
                     /gene_synonym="GABABR1; GABBR1-3; GB1; GPRC3A"
                     /coded_by="XM_054330244.1:65..2779"
                     /db_xref="GeneID:2550"
                     /db_xref="HGNC:HGNC:4070"
                     /db_xref="MIM:603540"
ORIGIN      
        1 mpgawmllll llaplflrpp gaggaqtpna tsegcqiihp pweggiryrg ltrdqvkain
       61 flpvdyeiey vcrgerevvg pkvrkclang swtdmdtpsr cvnrtphser ravyigalfp
      121 msggwpggqa cqpavemale dvnsrrdilp dyelklihhd skcdpgqatk ylyellyndp
      181 ikiilmpgcs svstlvaeaa rmwnlivlsy gssspalsnr qrfptffrth psatlhnptr
      241 vklfekwgwk kiatiqqtte vftstlddle ervkeagiei tfrqsffsdp avpvknlkrq
      301 dariivglfy etearkvfce vykerlfgkk yvwfligwya dnwfkiydps inctvdemte
      361 aveghittei vmlnpantrs isnmtsqefv ekltkrlkrh peetggfqea playdaiwal
      421 alalnktsgg ggrsgvrled fnynnqtitd qiyramnsss fegvsghvvf dasgsrmawt
      481 lieqlqggsy kkigyydstk ddlswsktdk wiggsppadq tlviktfrfl sqklfisvsv
      541 lsslgivlav vclsfniyns hvryiqnsqp nlnnltavgc slalaavfpl gldgyhigrn
      601 qfpfvcqarl wllglgfslg ygsmftkiww vhtvftkkee kkewrktlep wklyatvgll
      661 vgmdvltlai wqivdplhrt ietfakeepk edidvsilpq lehcssrkmn twlgifygyk
      721 glllllgifl ayetksvste kindhravgm aiynvavlcl itapvtmils sqqdaafafa
      781 slaivfssyi tlvvlfvpkm rrlitrgewq seaqdtmktg sstnnneeek srllekenre
      841 lekiiaekee rvselrhqlq srqqlrsrrh pptppepsgg lprgppeppd rlscdgsrvh
      901 llyk
//
LOCUS       XP_054187356             539 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 26 isoform X1 [Homo sapiens].
ACCESSION   XP_054187356
VERSION     XP_054187356.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331381.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167249.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..539
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..539
                     /product="tripartite motif-containing protein 26 isoform
                     X1"
                     /calculated_mol_wt=62035
     CDS             1..539
                     /gene="TRIM26"
                     /gene_synonym="AFP; RNF95; ZNF173"
                     /coded_by="XM_054331381.1:352..1971"
                     /db_xref="GeneID:7726"
                     /db_xref="HGNC:HGNC:12962"
                     /db_xref="MIM:600830"
ORIGIN      
        1 matsaplrsl eeevtcsicl dylrdpvtid cghvfcrsct tdvrpisgsr pvcplckkpf
       61 kkenirpvwq laslvenier lkvdkgrqpg evtreqqdak lcerhreklh yyceddgkll
      121 cvmcresreh rphtavlmek aaqphrekil nhlstlrrdr dkiqgfqakg eadilaalkk
      181 lqdqrqyiva efeqghqflr ereehlleql akleqelteg rekfksrgvg elarlalvis
      241 elegkaqqpa aelmqdtrdf lnryprkkfw vgkpiarvvk kktgefsdkl lslqrglref
      301 qgkllrdley ktvsvtldpq sasgylqlse dwkcvtytsl yksaylhpqq fdcepgvlgs
      361 kgftwgkvyw eveveregws edeeegdeee egeeeeeeee agygdgyddw etdedeeslg
      421 deeeeeeeee eevlescmvg vardsvkrkg dlslrpedgv walrlsssgi wantspeael
      481 fpalrprrvg ialdyeggtv tftnaesqel iytftatftr rlvpflwlkw pgtrlllrp
//
LOCUS       XP_054187879             636 aa            linear   PRI 20-MAR-2023
DEFINITION  heterogeneous nuclear ribonucleoprotein R isoform X5 [Homo
            sapiens].
ACCESSION   XP_054187879
VERSION     XP_054187879.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331904.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_014040926.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..636
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     Protein         1..636
                     /product="heterogeneous nuclear ribonucleoprotein R
                     isoform X5"
                     /calculated_mol_wt=71084
     CDS             1..636
                     /gene="HNRNPR"
                     /gene_synonym="hnRNP-R; HNRPR; NEDDFSB"
                     /coded_by="XM_054331904.1:87..1997"
                     /db_xref="GeneID:10236"
                     /db_xref="HGNC:HGNC:5047"
                     /db_xref="MIM:607201"
ORIGIN      
        1 manqvngnav qlkeeeepmd tssvthtehy ktlieaglpq kvaerldeif qtglvayvdl
       61 deraidalre fneegalsvl qqfkesdlsh vqnksaflcg vmktyrqrek qgskvqestk
      121 gpdeakikal lertgytldv ttgqrkyggp ppdsvysgvq pgigtevfvg kiprdlyede
      181 lvplfekagp iwdlrlmmdp lsgqnrgyaf itfcgkeaaq eavklcdsye irpgkhlgvc
      241 isvannrlfv gsipknktke nileefskvt glteglvdvi lyhqpddkkk nrgfcfleye
      301 dhksaaqarr rlmsgkvkvw gnvvtvewad pveepdpevm akvkvlfvrn lattvteeil
      361 eksfsefgkl ervkklkdya fvhfedrgaa vkamdemngk eiegeeieiv lakppdkkrk
      421 erqaarqasr stayedyyyh ppprmpppir grgrgggrgg ygyppdyygy edyyddyygy
      481 dyhdyrggye dpyygyddgy avrgrgggrg grgapppprg rgappprgra gysqrgaplg
      541 pprgsrggrg gpaqqqrgrg srgsrgnrgg nvggkrkadg ynqpdskrrq tnnqqnwgsq
      601 piaqqplqqg gdysgnygyn ndnqefyqdt ygqqwk
//
LOCUS       XP_054188238             285 aa            linear   PRI 20-MAR-2023
DEFINITION  protein phosphatase 1 regulatory subunit 3B isoform X1 [Homo
            sapiens].
ACCESSION   XP_054188238
VERSION     XP_054188238.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332263.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_018654717.1) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..285
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1-22"
     Protein         1..285
                     /product="protein phosphatase 1 regulatory subunit 3B
                     isoform X1"
                     /calculated_mol_wt=32564
     CDS             1..285
                     /gene="PPP1R3B"
                     /gene_synonym="GL; PPP1R4; PTG"
                     /coded_by="XM_054332263.1:122..979"
                     /db_xref="GeneID:79660"
                     /db_xref="HGNC:HGNC:14942"
                     /db_xref="MIM:610541"
ORIGIN      
        1 mmavdieyry ncmapslrqe rfafkispkp skplrpciql sskneasgmv apavqekkvk
       61 krvsfadnqg laltmvkvfs efddpldmpf nitelldniv slttaesesf vldfsqpsad
      121 yldfrnrlqa dhvclencvl kdkaiagtvk vqnlafektv kirmtfdtwk sytdfpcqyv
      181 kdtyagsdrd tfsfdislpe kiqsyermef avyyecngqt ywdsnrgkny riiraelkst
      241 qgmtkphsgp dlgisfdqfg sprcsyglfp ewpsylgyek lgpyy
//
LOCUS       XP_054191436            1446 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor L2 isoform X3 [Homo sapiens].
ACCESSION   XP_054191436
VERSION     XP_054191436.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335461.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1446
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1446
                     /product="adhesion G protein-coupled receptor L2 isoform
                     X3"
                     /calculated_mol_wt=161600
     CDS             1..1446
                     /gene="ADGRL2"
                     /gene_synonym="CIRL2; CL2; LEC1; LPHH1; LPHN2"
                     /coded_by="XM_054335461.1:936..5276"
                     /db_xref="GeneID:23266"
                     /db_xref="HGNC:HGNC:18582"
                     /db_xref="MIM:607018"
ORIGIN      
        1 mvssgcrmrs lwfiivisfl pntegfsraa lpfglvrrel scegysidlr cpgsdvimie
       61 sanygrtddk icdadpfqme ntdcylpdaf kimtqrcnnr tqcivvtgsd vfpdpcpgty
      121 kylevqyecv pyifvcpgtl kaivdspciy eaeqkagawc kdplqaadki yfmpwtpyrt
      181 dtlieyasle dfqnsrqttt yklpnrvdgt gfvvydgavf fnkertrniv kfdlrtriks
      241 geaiinyany hdtspyrwgg ktdidlavde nglwviyate qnngmivisq lnpytlrfea
      301 twetvydkra asnafmicgv lyvvrsvyqd nesetgknsi dyiyntrlnr geyvdvpfpn
      361 qyqyiaavdy nprdnqlyvw nnnfilrysl efgppdpaqv pttavtitss aelfktiist
      421 tsttsqkgpm sttvagsqeg skgtkpppav sttkippitn ifplperfce aldskgikwp
      481 qtqrgmmver pcpkgtrgta sylcmistgt wnpkgpdlsn ctshwvnqla qkirsgenaa
      541 slanelakht kgpvfagdvs ssvrlmeqlv dildaqlqel kpsekdsagr synkaivdtv
      601 dnllrpeale swkhmnsseq ahtatmlldt leegafvlad nlleptrvsm ptenivleva
      661 vlstegqiqd fkfplgikga gssiqlsant vkqnsrngla klvfiiyrsl gqflstenat
      721 iklgadfigr nstiavnshv isvsinkess rvyltdpvlf tlphidpdny fnancsfwny
      781 sertmmgyws tqgcklvdtn ktrttcacsh ltnfailmah reiaykdgvh ellltvitwv
      841 givislvcla iciftfcffr glqsdrntih knlcinlfia efifligidk tkyaiacpif
      901 agllhfffla afawmclegv qlylmlvevf eseysrkkyy yvagylfpat vvgvsaaidy
      961 ksygtekacw lhvdnyfiws figpvtfiil lniiflvitl ckmvkhsntl kpdssrleni
     1021 kswvlgafal lcllgltwsf gllfineeti vmaylftifn afqgvfifif hcalqkkvrk
     1081 eygkcfrhsy ccgglptesp hssvkasttr tsaryssgtq srirrmwndt vrkqsessfi
     1141 sgdinststl nqgmtgnyll tnpllrphgt nnpyntllae tvvcnapsap vfnspghsln
     1201 nardtsamdt lplngnfnns yslhkgdynd svqvvdcgls lndtafekmi iselvhnnlr
     1261 gsskthnlel tlpvkpvigg ssseddaiva dasslmhsdn pglelhhkel eaplipqrth
     1321 sllyqpqkkv ksegtdsyvs qltaeaedhl qspnrdslyt smpnlrdspy pesspdmeed
     1381 lspsrrsene diyyksmpnl gaghqlqmcy qisrgnsdgy iipinkegci pegdvregqm
     1441 qlvtsl
//
LOCUS       XP_054193819            1017 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF17 isoform X7 [Homo sapiens].
ACCESSION   XP_054193819
VERSION     XP_054193819.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337844.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 7% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1017
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1017
                     /product="kinesin-like protein KIF17 isoform X7"
                     /calculated_mol_wt=113081
     CDS             1..1017
                     /gene="KIF17"
                     /gene_synonym="KIF17B; KIF3X; KLP-2; OSM-3"
                     /coded_by="XM_054337844.1:301..3354"
                     /db_xref="GeneID:57576"
                     /db_xref="HGNC:HGNC:19167"
                     /db_xref="MIM:605037"
ORIGIN      
        1 maseavkvvv rcrpmnqrer elrcqpvvtv dcaraqcciq npgaadeppk qftfdgayhv
       61 dhvteqiyne iayplvegvt egyngtifay gqtgsgksft mqglpdppsq rgiiprafeh
      121 vfesvqcaen tkflvrasyl eiynedvrdl lgadtkqkle lkehpekgvy vkglsmhtvh
      181 svaqcehime tgwknrsvgy tlmnkdssrs hsiftisiem savdergkdh lragklnlvd
      241 lagserqskt gatgerlkea tkinlslsal gnvisalvdg rckhvpyrds kltrllqdsl
      301 ggntktlmva clspadnnyd etlstlryan raknirnkpr inedpkdall reyqeeikkl
      361 kailtqqmsp sslsallsrq vppdpvqvee kllpqpviqh dmeaekqlir eeyeerlarl
      421 kadykaeqes rarleedita mrnsydvrls tleenlrket eavlqvgvly kaevmsraef
      481 assaeyppaf qyetvvkpkv fsttdtlpsd dvsktqvssr faelpkveps kseislgsse
      541 sssleetsvs eafpgpeeps nvevsmptee srsryfldec lgqeaaghll geqnylpqee
      601 pqevplqgll glqdpfaeve aklarlsstv artdapqadv pkvpvqvpap tdllepsdar
      661 peaeaaddfp prpevdlase valevvrtae pgvwleaqap valvaqpepl patagvkres
      721 vgmevavltd dplpvvdqqq vlarlqlleq qvvggeqakn kdlkekhkrr kryaderrkq
      781 lvaalqnsde dsgdwvllnv ydsiqeevra kskllekmqr klraaeveik dlqsefqlek
      841 idylatirrq erdsmllqql leqvqplirr dcnysnleki lrescwdedn gfwkiphpvi
      901 tktslpqfql ghrtnqpakp lqqtmasrtw rrtatgscsv gatvktlpat tsdlsgpars
      961 saqtpgrass phpcppvlvf askpetcfta ftspdgegss chveeaqyql grncasv
//
LOCUS       XP_047299589             476 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear speckle splicing regulatory protein 1-like isoform X7 [Homo
            sapiens].
ACCESSION   XP_047299589
VERSION     XP_047299589.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047443633.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..476
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..476
                     /product="nuclear speckle splicing regulatory protein
                     1-like isoform X7"
                     /calculated_mol_wt=55332
     Region          193..>407
                     /region_name="PRK12678"
                     /note="transcription termination factor Rho; Provisional"
                     /db_xref="CDD:237171"
     CDS             1..476
                     /gene="LOC124905687"
                     /coded_by="XM_047443633.1:15575..17005"
                     /db_xref="GeneID:124905687"
ORIGIN      
        1 mpektggggd lqredtredr rrrrssergr prrqaaaaif rertpektgg ggdlqredar
       61 edrrrrrsse rgrprrqaaa aifrertper tggggdlqra daredrrrrr ssergcprgq
      121 avveifrert pektggggdl qredaredrr wrrssergrp rrqavaeifr erdaredrrr
      181 rrssergrpr rqaaaaifre rtpektgggg dlqrercprr qaaaaifrer tpektggggd
      241 lqredaredr rwrrssergr prrqavaeif rertpektgg ggdlqrercp rrqavaeifr
      301 ertpektggg gdlqrercpr rqavaaifre rtpektgggg dlqredared rrwrrsserr
      361 hvrrqavaei frertpektg gggdlqreda redrrwrrss ergrprrqav aeifrertpe
      421 ktggggdlqr edaredrrwr rssergcprr qavaeifrer tpektggggd lqreda
//
LOCUS       XP_054221510            2080 aa            linear   PRI 20-MAR-2023
DEFINITION  myoferlin isoform X1 [Homo sapiens].
ACCESSION   XP_054221510
VERSION     XP_054221510.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365535.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2080
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2080
                     /product="myoferlin isoform X1"
                     /calculated_mol_wt=236483
     CDS             1..2080
                     /gene="MYOF"
                     /gene_synonym="FER1L3; HAE7"
                     /coded_by="XM_054365535.1:141..6383"
                     /db_xref="GeneID:26509"
                     /db_xref="HGNC:HGNC:3656"
                     /db_xref="MIM:604603"
ORIGIN      
        1 mlrvivesas nipktkfgkp dpivsvifkd ekkktkkvdn elnpvwneil efdlrgipld
       61 fssslgiivk dfetigqnkl igtatvalkd ltgdqsrslp yklisllnek gqdtgatidl
      121 vigydppsap hpndlsgpsv pgmggdgeed egdedrldna vrgpgpkgpv gtvseaqlar
      181 rltkvknsrr mlsnkpqdfq irvrviegrq lsgnnirpvv kvhvcgqthr trikrgnnpf
      241 fdelffynvn mtpselmdei isirvynshs lradclmgef kidvgfvyde pghavmrkwl
      301 llndpedtss gskgymkvsm fvlgtgdepp perrdrdnds ddvesnlllp agialrwvtf
      361 llkiyraedi pqmddafsqt vkeifggnad kknlvdpfve vsfagkkvct niieknanpe
      421 wnqvvnlqik fpsvcekikl tiydwdrltk ndvvgttylh lskiaasgge vedfsssgtg
      481 aasytvntge tevgfvptfg pcylnlygsp reytgfpdpy delntgkgeg vayrgrilve
      541 latflektpp dkklepisnd dllvvekyqr rrkyslsavf hsatmlqdvg eaiqfevsig
      601 nygnkfdttc kplasttqys ravfdgnyyy ylpwahtkpv vtltsywedi shrldavntl
      661 lamaerlqtn iealksgiqg kipanqlael wlklidevie dtrytlplte gkanvtvldt
      721 qirklrsrsl sqiheaavrm rseatdvkst laeiedwldk lmqlteepqn smpdiiiwmi
      781 rgekrlayar ipahqvlyst sgenasgkyc gktqtiflky pqeknngpkv pvelrvniwl
      841 glsavekkfn sfaegtftvf aemyenqalm fgkwgtsglv grhkfsdvtg kiklkreffl
      901 ppkgwewege wivdpersll teadaghtef tdevyqnesr ypggdwkpae dtytdangdk
      961 aaspseltcp pgweweddaw sydinravde kgweygitip pdhkpkswva aekmyhthrr
     1021 rrlvrkrkkd ltqtasstar ameelqdqeg weyasligwk fhwkqrssdt frrrrwrrkm
     1081 apsethgaaa ifklegalga dttedgdeks lekqkhsatt vfgantpivs cnfdrvyiyh
     1141 lrcyvyqarn llaldkdsfs dpyahicflh rsktteiihs tlnptwdqti ifdeveiyge
     1201 pqtvlqnppk vimelfdndq vgkdeflgrs ifspvvklns emditpkllw hpvmngdkac
     1261 gdvlvtaeli lrgkdgsnlp ilppqrapnl ymvpqgirpv vqltaieila wglrnmknfq
     1321 masitspslv vecggerves vviknlkktp nfpssvlfmk vflpkeelym pplvikvidh
     1381 rqfgrkpvvg qctierldrf rcdpyagked ivpqlkasll sappcrdivi emedtkplla
     1441 skclssmsta lskmaspatv hltekeeeiv dwwskfyass gehekcgqyi qkgysklkiy
     1501 ncelenvaef egltdfsdtf klyrgksden edpsvvgefk gsfriyplpd dpsvpapprq
     1561 frelpdsvpq ectvriyivr glelqpqdnn glcdpyikit lgkkviedrd hyipntlnpv
     1621 fgrmyelscy lpqekdlkis vydydtftrd ekvgetiidl enrflsrfgs hcgipeeycv
     1681 sgvntwrdql rptqllqnva rfkgfpqpil sedgsriryg grdysldefe ankilhqhlg
     1741 apeerlalhi lrtqglvpeh vetrtlhstf qpnisqgklq mwvdvfpksl gppgppfnit
     1801 prkakkyylr viiwntkdvi ldeksitgee msdiyvkgwi pgneenkqkt dvhyrsldge
     1861 gnfnwrfvfp fdylpaeqlc ivakkehfws idqtefripp rliiqiwdnd kfslddylgf
     1921 leldlrhtii pakspekcrl dmipdlkamn plkaktaslf eqksmkgwwp cyaekdgarv
     1981 magkvemtle ilnekeader pagkgrdepn mnpkldlpnr petsflwftn pcktmkfivw
     2041 rrfkwviigl lfllilllfv avllyslpny lsmkivkpnv
//
LOCUS       XP_054223814             342 aa            linear   PRI 20-MAR-2023
DEFINITION  protein MFI isoform X1 [Homo sapiens].
ACCESSION   XP_054223814
VERSION     XP_054223814.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367839.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..342
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..342
                     /product="protein MFI isoform X1"
                     /calculated_mol_wt=40137
     CDS             1..342
                     /gene="C11orf65"
                     /gene_synonym="MFI"
                     /coded_by="XM_054367839.1:162..1190"
                     /db_xref="GeneID:160140"
                     /db_xref="HGNC:HGNC:28519"
ORIGIN      
        1 mpwkeeseft kqdkaarviq qawksflnva ifqhfkslid lrrqgeprqi vkyinpkeae
       61 lldaaagihv rfrlggvkfp pdiyykifth rpiedlcans prnyaklpak htshnkndhl
      121 qeedhsgwyh rienngwrpv sdtfwlstdg mvvedkkese fhfsklkrrq dlekkrklrk
      181 iewmrqmyys gsleaksthh etlglihtat kglirafedg gidsvmewev devlnwtntl
      241 nfdedtkkme kslvlennaf llyksssfey ssgsysalkw nmknfyllql llmstpfypn
      301 gksemndskv klppntkktn alhyikasdr ppqkiiwykt lr
//
LOCUS       XP_054224841            2054 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-VIIa isoform X29 [Homo sapiens].
ACCESSION   XP_054224841
VERSION     XP_054224841.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368866.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2054
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2054
                     /product="unconventional myosin-VIIa isoform X29"
                     /calculated_mol_wt=234254
     CDS             1..2054
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /coded_by="XM_054368866.1:107..6271"
                     /db_xref="GeneID:4647"
                     /db_xref="HGNC:HGNC:7606"
                     /db_xref="MIM:276903"
ORIGIN      
        1 mdlrlgqefd vpigavvklc dsgqvqvvdd ednehwispq nathikpmhp tsvhgvedmi
       61 rlgdlneagi lrnlliryrd hliytytgsi lvavnpyqll siyspehirq ytnkkigemp
      121 phifaiadnc yfnmkrnsrd qcciisgesg agktestkli lqflaaisgq hswieqqvle
      181 atpileafgn aktirndnss rfgkyidihf nkrgaiegak ieqylleksr vcrqaldern
      241 yhvfycmleg msedqkkklg lgqasdynyl amgncitceg rvdsqeyani rsamkvlmft
      301 dtenweiskl laailhlgnl qyeartfenl dacevlfsps lataasllev nppdlmsclt
      361 srtlitrget vstplsreqa ldvrdafvkg iygrlfvwiv dkinaaiykp psqdvknsrr
      421 siglldifgf enfavnsfeq lcinfanehl qqffvrhvfk leqeeydles idwlhieftd
      481 nqdaldmian kpmniislid eeskfpkgtd ttmlhklnsq hklnanyipp knnhetqfgi
      541 nhfagivyye tqgfleknrd tlhgdiiqlv hssrnkfikq ifqadvamga etrkrsptls
      601 sqfkrslell mrtlgacqpf fvrcikpnef kkpmlfdrhl cvrqlrysgm metirirrag
      661 ypirysfvef veryrvllpg vkpaykqgdl rgtcqrmaea vlgthddwqi gktkiflkdh
      721 hdmlleverd kaitdrvill qkvirgfkdr snflklknaa tliqrhwrgh ncrknyglmr
      781 lgflrlqalh rsrklhqqyr larqriiqfq arcraylvrk afrhrlwavl tvqayargmi
      841 arrlhqrlra eylwrleaek mrlaeeeklr kemsakkake eaerkhqerl aqlaredaer
      901 elkekeaarr kkelleqmer arhepvnhsd mvdkmfgflg tsgglpgqeg qapsgfedle
      961 rgrremveed ldaalplpde deedlseykf akfaatyfqg ttthsytrrp lkqpllyhdd
     1021 egdqlaalav witilrfmgd lpepkyhtam sdgsekipvm tkiyetlgkk tykrelqalq
     1081 gegeaqlpeg qkkssvrhkl vhltlkkksk lteevtkrlh dgestvqgns mledrptsnl
     1141 eklhfiigng ilrpalrdei ycqiskqlth npskssyarg wilvslcvgc fapsekfvky
     1201 lrnfihggpp gyapyceerl rrtfvngtrt qppswlelqa tkskkpimlp vtfmdgttkt
     1261 lltdsattak elcnaladki slkdrfgfsl yialfdkvss lgsgsdhvmd aisqceqyak
     1321 eqgaqernap wrlffrkevf tpwhspsedn vatnliyqqv vrgvkfgeyr cekeddlael
     1381 asqqyfvdyg semilerlln lvptyipdre itplktlekw aqlaiaahkk giyaqrrtda
     1441 qkvkedvvsy arfkwpllfs rfyeaykfsg pslpkndviv avnwtgvyfv deqeqvllel
     1501 sfpeimavss srecrvwlsl gcsdlgcaap hsgwagltpa gpcspcwscr gakttapsft
     1561 latikgdeyt ftssnaedir dlvvtflegl rkrskyvval qdnpnpagee sgflsfakgd
     1621 liildhdtge qvmnsgwang inertkqrgd fptdcvyvmp tvtmppreiv alvtmtpdqr
     1681 qdvvrllqlr taepevrakp ytleefsydy frpppkhtls rvmvskargk drlwshtrep
     1741 lkqallkkll gseelsqeac lafiavlkym gdypskrtrs vneltdqife gplkaeplkd
     1801 eayvqilkql tdnhirysee rgwellwlct glfppsnill phvqrflqsr khcplaidcl
     1861 qrlqkalrng srkypphlve veaiqhkttq ifhkvyfpdd tdeafevess tkakdfcqni
     1921 atrlllksse gfslfvkiad kvisvpendf ffdfvrhltd wikkarpikd gvlheeavdh
     1981 hgaregshgr fhlpllpgva qvsprlpqvh agggaaagga dlqgqvrggq vllpqhpqaa
     2041 agagapgpyp aglt
//
LOCUS       XP_054230249            1460 aa            linear   PRI 20-MAR-2023
DEFINITION  sister chromatid cohesion protein PDS5 homolog B isoform X10 [Homo
            sapiens].
ACCESSION   XP_054230249
VERSION     XP_054230249.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374274.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1460
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1460
                     /product="sister chromatid cohesion protein PDS5 homolog B
                     isoform X10"
                     /calculated_mol_wt=166030
     CDS             1..1460
                     /gene="PDS5B"
                     /gene_synonym="APRIN; AS3; CG008"
                     /coded_by="XM_054374274.1:264..4646"
                     /db_xref="GeneID:23047"
                     /db_xref="HGNC:HGNC:20418"
                     /db_xref="MIM:605333"
ORIGIN      
        1 mfstesyfkg rnisvmahsk trtndgkity ppgvkeisdk iskeemvrrl kmvvktfmdm
       61 dqdseeekel ylnlalhlas dfflkhpdkd vrllvaccla difriyapea pytspdklkd
      121 ifmfitrqlk gledtkspqf nryfylleni awvksynicf eledsneift qlyrtlfsvi
      181 nnghnqkvhm hmvdlmssii cegdtvsqel ldtvlvnlvp ahknlnkqay dlakallkrt
      241 aqaiepyitn ffnqvlmlgk tsisdlsehv fdlilelyni dshlllsvlp qlefklksnd
      301 neerlqvvkl lakmfgakds elasqnkplw qcylgrfndi hvpirlecvk fashclmnhp
      361 dlakdlteyl kvrshdpeea irhdvivsiv taakkdillv ndhllnfvre rtldkrwrvr
      421 keammglaqi ykkyalqsaa gkdaakqiaw ikdkllhiyy qnsiddrllv erifaqymvp
      481 hnlettermk clyylyatld lnavkalnem wkcqnllrhq vkdlldlikq pktdasvkai
      541 fskvmvitrn lpdpgkaqdf mkkftqvled dekirkqlev lvsptcsckq aegcvreitk
      601 klgnpkqptn pflemikfll eriapvhidt esisalikqv nksidgtadd edegvptdqa
      661 iraglellkv lsfthpisfh saetfeslla clkmddekva eaalqifknt gskieedfph
      721 irsallpvlh hkskkgpprq akyaihciha ifssketqfa qifeplhksl dpsnlehlit
      781 plvtighial lapdqfaapl kslvatfivk dllmndrlpg kkttklwvpd eevspetmvk
      841 iqaikmmvrw llgmknnhsk sgtstlrllt tilhsdgdlt eqgkiskpdm srlrlaagsa
      901 ivklaqepcy heiitleqyq lcalaindec yqvrqvfaqk lhkglsrlrl pleymaical
      961 cakdpvkerr aharqclvkn invrreylkq haavseklls llpeyvvpyt ihllahdpdy
     1021 vkvqdieqlk dvkeclwfvl eilmaknenn shafirkmve nikqtkdaqg pddakmnekl
     1081 ytvcdvamni imsksttysl espkdpvlpa rfftqpdknf sntknylppe mksfftpgkp
     1141 kttnvlgavn kplssagkqs qtkssrmetv snassssnps spgrikgrld ssemdhsene
     1201 dytmssplpg kksdkrddsd lselekprgr kktpvteqee klgmddltkl vqeqkpkgsq
     1261 rsrkrghtas esdeqqwpee krlkedilen edeqnsppkk gkrgrppkpl gggtpkeept
     1321 mktskkgskk ksgppapeee eeeerqsgnt eqkskskqhr vsrraqqrae spessaiest
     1381 qstpqkgrgr psktpspsqp kknvrvgrsk qaatkendss eevdvfqgss pvddipqeet
     1441 eeeevstvnv rrrsakrerr
//
LOCUS       XP_054230388            1728 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium leak channel NALCN isoform X2 [Homo sapiens].
ACCESSION   XP_054230388
VERSION     XP_054230388.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374413.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1728
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1728
                     /product="sodium leak channel NALCN isoform X2"
                     /calculated_mol_wt=199111
     CDS             1..1728
                     /gene="NALCN"
                     /gene_synonym="bA430M15.1; CanIon; CLIFAHDD; IHPRF;
                     IHPRF1; INNFD; VGCNL1"
                     /coded_by="XM_054374413.1:104..5290"
                     /db_xref="GeneID:259232"
                     /db_xref="HGNC:HGNC:19082"
                     /db_xref="MIM:611549"
ORIGIN      
        1 mqsavqtvvl clltkanlsm lkrkqssrve aqpvtdfgpd eslsdnadil winkpwvhsl
       61 lricaiisvi svcmntpmtf ehypplqyvt ftldtllmfl ytaemiakmh irgivkgdss
      121 yvkdrwcvfd gfmvfclwvs lvlqvfeiad ivdqmspwgm lriprplimi rafriyfrfe
      181 lprtritnil krsgeqiwsv sifllfflll ygilgvqmfg tftyhcvvnd tkpgnvtwns
      241 laipdthcsp eleegyqcpp gfkcmdledl glsrqelgys gfneigtsif tvyeaasqeg
      301 wvflmyraid sfprwrsyfy fitlifflaw lvknvfiavi ietfaeirvq fqqmwgsrss
      361 ttstattqkm mrssvfhmfi lsmvtvdviv aasnyykgen frrqydefyl aevaftvlfd
      421 leallkiwcl gftgyisssl hkfelllvig ttlhvypdly hsqftyfqvl rvvrlikisp
      481 aledfvykif gpgkklgslv vftasllivm saislqmfcf veeldrfttf prafmsmfqi
      541 ltqegwvdvm dqtlnavghm wapvvaiyfi lyhlfatlil lslfvavild nleldedlkk
      601 lkqlkqsean adtkeklplr lrifekfpnr pqmvkisklp sdftvpkire sfmkqfidrq
      661 qqdtccllrs lpttsssscd hskrsaiedn kyidqklrks vfsirarnll eketavtkil
      721 ractrqrmls gsfegqpake rsilsvqhhi rqerrslrhg snsqrisrgk sletltqdhs
      781 ntvryrnaqr edseikmiqe kkeqaemkrk vqeeelrenh pyfdkplfiv grehrfrnfc
      841 rvvvrarfna sktdpvtgav kntkyhqlyd llglvtyldw vmiivticsc ismmfespfr
      901 rvmhaptlqi aeyvfvifms ielnlkimad glfftptavi rdfggvmdif iylvsliflc
      961 wmpqnvpaes gaqllmvlrc lrplrifklv pqmrkvvrel fsgfkeiflv sillltlmlv
     1021 fasfgvqlfa gklakcndpn iirredcngi frinvsvskn lnlklrpgek kpgfwvprvw
     1081 anprnfnfdn vgnamlalfe vlslkgwvev rdviihrvgp ihgiyihvfv flgcmigltl
     1141 fvgvvianfn enkgtalltv dqrrwedlks rlkiaqplhl pprpdndgfr akmyditqhp
     1201 ffkrtiallv laqsvllsvk wdvedpvtvp latmsvvftf ifvlevtmki iamspagfwq
     1261 srrnrydllv tslgvvwvvl hfallnayty mmgacvivfr ffsicgkhvt lkmllltvvv
     1321 smyksffiiv gmfllllcya fagvvlfgtv kygeninrha nfssagkait vlfrivtged
     1381 wnkimhdcmv qppfctpdef tywatdcgny agalmyfcsf yviiayimln llvaiivenf
     1441 slfysteedq llsyndlrhf qiiwnmvddk regviptfrv kfllrllrgr levdldkdkl
     1501 lfkhmcyeme rlhnggdvtf hdvlsmlsyr svdirkslql eellareqle ytieeevakq
     1561 tirmwlkkcl krirakqqqs csiihslres qqqelsrfln ppsiettqps edtnansqdn
     1621 smqpetssqq qllsptlsdr ggsrqdaada gkpqrkfgqw rlpsapkpis hsvssvnlrf
     1681 ggrttmksvv ckmnpmtdaa scgsevkkww trqltvesde sgddlldi
//
LOCUS       XP_054230518            1439 aa            linear   PRI 20-MAR-2023
DEFINITION  LIM domain only protein 7 isoform X20 [Homo sapiens].
ACCESSION   XP_054230518
VERSION     XP_054230518.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374543.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1439
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1439
                     /product="LIM domain only protein 7 isoform X20"
                     /calculated_mol_wt=164510
     CDS             1..1439
                     /gene="LMO7"
                     /gene_synonym="FBX20; FBXO20; LMO7b; LOMP"
                     /coded_by="XM_054374543.1:786..5105"
                     /db_xref="GeneID:4008"
                     /db_xref="HGNC:HGNC:6646"
                     /db_xref="MIM:604362"
ORIGIN      
        1 mqdynkddms yrrisavepk talpfnrflp nksrqpsyvp aplrkkkpdk hednrrswas
       61 pvyteadgtf ssnqrriwgt nvenwptvqg tsksscylee ekaktrsipn ivkddlyvrk
      121 lspvmpnpgn afdqflpkcw tpedvnwkri kretykpwyk efqgfsqfll lqalqtysdd
      181 ilssethtki dptsgprlit rrknlsyapg yrrddlemaa ldpdlenddf fvrktgafha
      241 npyvlrafed frkfseqdds verdiilqcr egelvlpdle kddmivrrip aqkkevplsg
      301 apdryhpvpf pepwtlppei qakflcvler tcpskeksns crilvpsyrq kkddmltrki
      361 qswklgttvp pisftpgpcs eadlkrweai reasrlrhkk rlmverlfqk iygengsksm
      421 sdvsaedvqn lrqlryeemq kiksqlkeqd qkwqddlakw kdrrksytsd lqkkkeeree
      481 iekqaleksk rssktfkeml qdresqnqks tvpsrrrmys fddvleegkr pptmtvseas
      541 yqserveekg atypseipke dsttfakred rvtteiqlps qspveeqspa slsslrsrst
      601 qmestrvsas lprsyrktdt vrltsvvtpr pfgsqtrgis slprsytmdd awkyngdved
      661 ikrtpnnvvs tpapspdasq lasslssqke vaateedvtr lpsptspfss lsqdqaatsk
      721 atlsstsgld lmsesgegei spqrevsrsq dqfsdmrisi nqtpgksldf gftikwdipg
      781 ifvasveags paefsqlqvd deiiainntk fsyndskewe eamakaqetg hlvmdvrryg
      841 kadwgkdqps lpfirhktln ltsmatkiig spetkwidat sgiynsekss nlsvttdfse
      901 slqssniesk eingihdesn afeskasesi slknlkrrsq ffeqgssgfs ysswvylcgs
      961 sdsvvpdlpv ptisapsrwv wdqeeerkrq erwqkeqdrl lqekyqreqe klreewqrak
     1021 qeaerensky ldeelmvlss nsmslttrep slatweatws egskssdreg trageeerrq
     1081 pqeevvhedq gkkpqdqlvi ererkweqql qeeqeqkrlq aeaeeqkrpa eeqkrqaeie
     1141 retsvriyqy rrpvdsydip kteeassgfl pgdrnksrst telddystnk ngnnkyldqi
     1201 gnmtssqrrs kkeqvpsgae lerqqilqem rkrtplhndn swirqrsasv nkepvslpgi
     1261 mrrgesldnl dsprsnswrq ppwlnqptgf yasssvqdfs rpppqlvsts nraymrnpss
     1321 svpppsagsv ktsttgvatt qsptprshsp sasqsgsqlr nrsvsgkric sycnnilgkg
     1381 aamiieslgl cyhlhcfkcv acecdlggss sgaevrirnh qlycndcylr fksgrptam
//
LOCUS       XP_054230943             306 aa            linear   PRI 20-MAR-2023
DEFINITION  ribonuclease H2 subunit B isoform X1 [Homo sapiens].
ACCESSION   XP_054230943
VERSION     XP_054230943.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374968.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..306
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..306
                     /product="ribonuclease H2 subunit B isoform X1"
                     /calculated_mol_wt=34543
     CDS             1..306
                     /gene="RNASEH2B"
                     /gene_synonym="AGS2; DLEU8"
                     /coded_by="XM_054374968.1:147..1067"
                     /db_xref="GeneID:79621"
                     /db_xref="HGNC:HGNC:25671"
                     /db_xref="MIM:610326"
ORIGIN      
        1 mtqlkefglg sasqkeylkd askkmknglm fvklvnpcsg egaiylfnmc lqqlfevkvf
       61 kekhhswfin qsvqsggllh fatpvdplfl llhylikadk egkfqpldqv vvdnvfpnci
      121 lllklpglek llhhvteekg npeidnkkyy kyskektlkw lekkvnqtva alktnnvnvs
      181 srvqstaffs gdqastdkee dyiryahgli sdyipkelsd dlskylklpe psaslpnpps
      241 kkiklsdepv eakedytkfn tkdlktekkn skmtaaqkal akvdksgmks idtffgvknk
      301 kkigkv
//
LOCUS       XP_054231902             673 aa            linear   PRI 20-MAR-2023
DEFINITION  protein O-mannosyl-transferase 2 isoform X6 [Homo sapiens].
ACCESSION   XP_054231902
VERSION     XP_054231902.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375927.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..673
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..673
                     /product="protein O-mannosyl-transferase 2 isoform X6"
                     /calculated_mol_wt=76163
     CDS             1..673
                     /gene="POMT2"
                     /gene_synonym="LGMD2N; LGMDR14; MDDGA2; MDDGB2; MDDGC2"
                     /coded_by="XM_054375927.1:203..2224"
                     /db_xref="GeneID:29954"
                     /db_xref="HGNC:HGNC:19743"
                     /db_xref="MIM:607439"
ORIGIN      
        1 mppatgggla eselrprrgr cgpqaaraag rdvaaeavar spkrpawgsr rfeavgwwal
       61 lalvtllsfa trfhrldepp hicwdethfg kmgsyyinrt fffdvhpplg kmliglagyl
      121 sgydgtflfq kpgdkyehhs ymgmrgfcaf lgswlvpfay ltvldlsksl saalltaall
      181 tfdlaygsvi tvknlrmaig ylhshrhlyp egigarqqqv ttylhkdynn lwiikkhntn
      241 sdpldpsfpv efvrhgdiir lehkecplkk iwrweqkets rnlhshyhea pmtrkhyqvt
      301 gygingtgds ndfwrievvn rkfgnrikvl rsrirfihlv tgcvlgssgk vlpkwgweql
      361 evtctpylke tlnsiwnved hinpklpnis ldvlqpsfpe illeshmvmi rgnsglkpkd
      421 neftskpwhw pinyqglrfs gvndtdfrvy llgnpvvwwl nllsialyll sgsiiavamq
      481 rgarlpaeva gqvlwalppl twrqqgtctp gegrlpadgp sfafttphlp lsfaferkpr
      541 nheikklapg htarlsqvll rgggqvllgw tlhyfpfflm grvlyfhhyf pamlfssmlt
      601 gilwdtllrl cawglaswpl argihvagil slllgtaysf ylfhplaygm vgplaqdpqs
      661 pmaglrwlds wdf
//
LOCUS       XP_054234088            1160 aa            linear   PRI 20-MAR-2023
DEFINITION  S phase cyclin A-associated protein in the endoplasmic reticulum
            isoform X10 [Homo sapiens].
ACCESSION   XP_054234088
VERSION     XP_054234088.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378113.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1160
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1160
                     /product="S phase cyclin A-associated protein in the
                     endoplasmic reticulum isoform X10"
                     /calculated_mol_wt=131361
     CDS             1..1160
                     /gene="SCAPER"
                     /gene_synonym="IDDRP; MSTP063; Zfp291; ZNF291"
                     /coded_by="XM_054378113.1:98..3580"
                     /db_xref="GeneID:49855"
                     /db_xref="HGNC:HGNC:13081"
                     /db_xref="MIM:611611"
ORIGIN      
        1 mktkyifcni terkdaegwe tvqrgrpirs rstavmpkvs lateatrskd dsdkenvcll
       61 pdesiqkgqf vgdgtsntie shpkdslhsc dhplaektqf tvstlddvkn sgsirdnyvr
      121 tseisavhid tecvsvmlqa gtpplqvnee kfpaekarie nemdpsdisn vsaanlsmae
      181 vlakkeelad rlekaneeai asaiaeeeql treieaeenn dinietdnds dfsasmgsgs
      241 vsfcgmsmdw ndvladyear eswrqntswg diveeeparp pghgihmhek lsspsrkrti
      301 aeskkkheek qmkaqqlrek lreektlklq kllerekdvr kwkeelldqr rrmmeekllh
      361 aefkrevqlq aivkkaqeee akvneiafin tleaqnkrhd vlsklkeyeq rlnelqeerq
      421 rrqeekqard eavqerkral eaerqarvee llmkrkeqea rieqqrqeke karedaarer
      481 ardreerlaa ltaaqqeame elqkkiqlkh desirrhmeq ieqrkekaae lssgrhantd
      541 yapkltpyer kkqcslcnvl issevylfsh vkgrkhqqav rentsiqgre lsdeevehls
      601 lkkyiidivv estapaealk dgeerqknkk kakkikarmn frakeyeslm etknsgsdsp
      661 ykaklqrlak dllkqvqvqd sgswannkvs aldrtlgeit rilekenvad qiafqaaggl
      721 talehilqav vpatnvntvl rippkslcna invynltcnn csencsdvlf snkitflmdl
      781 lihqltvyvp denntilgrn tnkqvfeglt tgllkvsavv lgclianrpd gncqpatpki
      841 ptqemknkps qgdpfnnrvq dlisyvvnmg lidklcacfl svqgpvdenp kmaiflqhaa
      901 gllhamctlc favtgrsysi fdnnrqdptg ltaalqatdl agvlhmlycv lfhgtildps
      961 taspkenytq ntiqvaiqsl rffnsfaalh lpafqsivga eglslafrhm assllghcsq
     1021 vscesllhev ivcvgyftvn hpdnqvivqs grhptvlqkl cqlpfqyfsd prlikvlfps
     1081 liaacynnhq nkiileqems cvllatfiqd laqtpgqaen qpyqpkgkcl gsqdylelan
     1141 rfpqqaweea rqfflkkekk
//
LOCUS       XP_054234169            1191 aa            linear   PRI 20-MAR-2023
DEFINITION  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2
            isoform X6 [Homo sapiens].
ACCESSION   XP_054234169
VERSION     XP_054234169.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378194.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1191
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1191
                     /product="1-phosphatidylinositol 4,5-bisphosphate
                     phosphodiesterase beta-2 isoform X6"
                     /calculated_mol_wt=134506
     CDS             1..1191
                     /gene="PLCB2"
                     /gene_synonym="PLC-beta-2"
                     /coded_by="XM_054378194.1:264..3839"
                     /db_xref="GeneID:5330"
                     /db_xref="HGNC:HGNC:9055"
                     /db_xref="MIM:604114"
ORIGIN      
        1 msllnpvllp pkvkaylsqg erfikwddet tvaspvilrv dpkgyylywt yqskemefld
       61 itsirdtrfg kfakmpksqk lrdvfnmdfp dnsfllktlt vvsgpdmvdl tfhnfvsyke
      121 nvgkawaedv lalvkhplta nasrstfldk ilvklkmqln segkipvknf fqmfpadrkr
      181 veaalsachl pkgkndainp edfpepvyks flmslcprpe ideiftsyha kakpymtkeh
      241 ltkfinqkqr dsrlnsllfp parpdqvqgl idkyepsgin aqrgqlspeg mvwflcgpen
      301 svlaqdklll hhdmtqplnh yfinsshnty ltagqfsgls saemyrqvll sgcrcveldc
      361 wkgkppdeep iithgftmtt diffkeaiea iaesafktsp ypiilsfenh vdsprqqakm
      421 aeycrtifgd mllteplekf plkpgvplps pedlrgkili knkknqfsgp tssskdtgge
      481 aegssppsap agegtvwage egteleeeev eeeeeeesgn ldeeeikkmq sdegtaglev
      541 tayeemsslv nyiqptkfvs fefsaqknrs yvissftelk aydllskasv qfvdynkrqm
      601 sriypkgtrm dssnympqmf wnagcqmval nfqtmdlpmq qnmavfefng qsgyllkhef
      661 mrrpdkqfnp fsvdridvvv attlsitvis gqflsersvr tyvevelfgl pgdpkrryrt
      721 klspstnsin pvwkeepfvf ekilmpelas lrvavmeegn kflghriipi nalnsgyhhl
      781 clhsesnmpl tmpalfifle mkdyipgawa dltvalanpi kffsahdtks vklkeamggl
      841 pekpfplasp vasqvngala ptsngspara gareeamkea aeprtaslee lrelkgvvkl
      901 qrrhekelre lerrgarrwe ellqrgaaql aelgppgvgg vgacklgpgk gsrkkrslpr
      961 eesagaapge gpegvdgrvr elkdrlelel lrqgeeqyec vlkrkeqhva eqiskmmela
     1021 rekqaaelka lketsendtk emkkkletkr leriqgmtkv ttdkmaqerl kreinnshiq
     1081 evvqvikqmt enlerhqekl eekqaacleq iremekqgsl lspqfqkeal aeyearmkgl
     1141 eaevkesvra clrtcfpsea kdkperacec ppelceqdpl iakadaqesr l
//
LOCUS       XP_054169484             217 aa            linear   PRI 20-MAR-2023
DEFINITION  LYR motif-containing protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054169484
VERSION     XP_054169484.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313509.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..217
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..217
                     /product="LYR motif-containing protein 1 isoform X3"
                     /calculated_mol_wt=24299
     CDS             1..217
                     /gene="LYRM1"
                     /gene_synonym="A211C6.1"
                     /coded_by="XM_054313509.1:153..806"
                     /db_xref="GeneID:57149"
                     /db_xref="HGNC:HGNC:25074"
                     /db_xref="MIM:614709"
ORIGIN      
        1 mpprlflnsp ppqnsqllqr flqsnpfwkr rrpggskppt iparvsrlpt paaaassstt
       61 atassssaah rrrpprspap siasciitsg npagrqlqeg ewergkegts grlrhdahkd
      121 vrsrrqmtta trqevlglyr sifrlarkwq atsgqmedti kekqyilnea rtlfrknkni
      181 hlppmgltpl rgrglrsqek lrklskpvyl rshdevs
//
LOCUS       XP_054174584            3342 aa            linear   PRI 20-MAR-2023
DEFINITION  laminin subunit alpha-3 isoform X1 [Homo sapiens].
ACCESSION   XP_054174584
VERSION     XP_054174584.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318609.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3342
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3342
                     /product="laminin subunit alpha-3 isoform X1"
                     /calculated_mol_wt=367546
     CDS             1..3342
                     /gene="LAMA3"
                     /gene_synonym="BM600; E170; JEB2A; JEB2B; JEB2C; LAMNA;
                     LOCS"
                     /coded_by="XM_054318609.1:232..10260"
                     /db_xref="GeneID:3909"
                     /db_xref="HGNC:HGNC:6483"
                     /db_xref="MIM:600805"
ORIGIN      
        1 maaaarprgr algpvlpptp llllvlrvlp acgatardpg aaaglslhpt yfnlaeaari
       61 watatcgerg pgegrpqpel ycklvggpta pgsghtiqgq fcdycnsedp rkahpvtnai
      121 dgserwwqsp plssgtqynr vnltldlgql fhvayilikf ansprpdlwv lersvdfgst
      181 yspwqyfahs kvdclkefgr eanmavtrdd dvlcvteysr ivplengevv vslingrpga
      241 knftfshtlr eftkatnirl rflrtntllg hliskaqrdp tvtrryyysi kdisiggqcv
      301 cnghaevcni nnpeklfrce cqhhtcgetc drcctgynqr rwrpaaweqs heceacnchg
      361 hasncyydpd verqqaslnt qgiyagggvc incqhntagv nceqcakgyy rpygvpvdap
      421 dgcipcscdp ehadgceqgs grchckpnfh gdncekcaig yynfpfclri pifpvstpss
      481 edpvagdikg cdcnlegvlp eicdahgrcl crpgvegprc dtcrsgfysf picqacwcsa
      541 lgsyqmpcss vtgqcecrpg vtgqrcdrcl sgaydfphcq gsssacdpag tinsnlgycq
      601 cklhvegptc srckllywnl dkenpsgcse ckchkagtvs gtgecrqgdg dchckshvgg
      661 dscdtcedgy faleksnyfg cqgcqcdigg alssmcsgps gvcqcrehvv gkvcqrpenn
      721 yyfpdlhhmk yeiedgstpn grdlrfgfdp lafpefswrg yaqmtsvqnd vritlnvgks
      781 sgslfrvilr yvnpgteavs ghitiypswg karaaqskei iflpskepaf vtvpgngfad
      841 pfsitpgiwv acikaegvll dylvllprdy yeasvlqlpv tepcayagpp qeksvwgrsc
      901 llyqhlpvtr fpctlacear hflldgeprp vavrqptpah pvmvdlsgre velhlrlrip
      961 qvghyvvvve ysteaaqlfv vdvnvkssgs vlagqvniys cnysvlcrsa vidhmsriam
     1021 yelladadiq lkghmarfll hqvciipiee fsaeyvrpqv hciasygrfv nqsatcvsla
     1081 hetpptalil dvlsgrpfph lpqqsspsvd vlpgvtlkap qnqvtlrgrv phlgryvfvi
     1141 hfyqaahptf paqvsvdggw pragsfhasf cphvlgcrdq viaegqiefd isepevaatv
     1201 kvpegkslvl vrvlvvpaen ydyqilhkks mdkslefitn cgknsfyldp qtasrfckns
     1261 arslvafyhk galpcechpt gatgphcspe ggqcpcqpnv igrqctrcat ghygfprckp
     1321 cscgrrlcee mtgqcrcppr tvrpqcevce thsfsfhpma gcegcncsrr gtieaampec
     1381 drdsgqcrck pritgrqcdr casgfyrfpe cvpcncnrdg tepgvcdpgt gaclckenve
     1441 gtecnvcreg sfhldpanlk gctscfcfgv nnqchsshkr rtkfvdmlgw hletadrvdi
     1501 pvsfnpgsns mvadlqelpa tihsaswvap tsylgdkvss yggyltyqak sfglpgdmvl
     1561 lekkpdvqlt gqhmsiiyee tntprpdrlh hgrvhvvegn frhassrapv sreelmtvls
     1621 rladvriqgl yftetqrltl sevgleeasd tgsgrialav eicacppaya gdscqgcspg
     1681 yyrdhkglyt grcvpcncng hsnqcqdgsg icvncqhnta gehcercqeg yygnavhgsc
     1741 racpcphtns fatgcvvngg dvrcsckagy tgtqcercap gyfgnpqkfg gscqpcscns
     1801 ngqlgschpl tgdcinqepk dsspaeecdd cdscvmtlln dlatmgeqlr lvksqlqgls
     1861 asaglleqmr hmetqakdlr nqllnyrsai snhgskiegl ereltdlnqe fetlqekaqv
     1921 nsrkaqtlnn nvnratqsak eldvkiknvi rnvhillkqi sgtdgegnnv psgdfsrewa
     1981 eaqrmmrelr nrnfgkhlre aeadkresql llnrirtwqk thqgenngla nsirdslney
     2041 eaklsdlrar lqeaaaqakq anglnqener algaiqrqvk einslqsdft kylttadssl
     2101 lqtnialqlm eksqkeyekl aaslnearqe lsdkvrelsr sagktslvee aekharslqe
     2161 lakqleeikr nasgdelvrc avdaatayen ilnaikaaed aanraasase salqtviked
     2221 lprkaktlss nsdkllneak mtqkklkqev spalnnlqqt lnivtvqkev idtnlttlrd
     2281 glhgiqrgdi damissaksm vrkanditde vldglnpiqt dverikdtyg rtqnedfkka
     2341 ltdadnsvnk ltnklpdlwr kiesinqqll plgnisdnmd rireliqqar daaskvavpm
     2401 rfngksgvev rlpndledlk gytslslflq rpnsrenggt enmfvmylgn kdasrdyigm
     2461 avvdgqltcv ynlgdreael qvdqiltkse tkeavmdrvk fqriyqfarl nytkgatssk
     2521 petpgvydmd grnsntllnl dpenvvfyvg gyppdfklps rlsfppykgc ielddlnenv
     2581 lslynfkktf nlnttevepc rrrkeesdkn yfegtgyarv ptqphapipt fgqtiqttvd
     2641 rgllffaeng drfislnied gklmvrykln selpkergvg dainngrdhs iqikigklqk
     2701 rmwinvdvqn tiidgevfdf styylggipi airerfnist pafrgcmknl kktsgvvrln
     2761 dtvgvtkkcs edwklvrsas fsrggqlsft dlglpptdhl qasfgfqtfq psgilldhqt
     2821 wtrklqvtle dgyielstsd sggpifkspq tymdgllhyv svisdnsglr lliddqllrn
     2881 skrlkhisss rqslrlggsn fegcisnvfv qrlslspevl dltsnslkrd vslggcslnk
     2941 ppflmllkgs trfnktktfr inqllqdtpv asprsvkvwq dacsplpktq anhgalqfgd
     3001 iptshllfkl pqellkprsq favdmqttss rglvfhtgtk nsfmalylsk grlvfalgtd
     3061 gkklrikske kcndgkwhtv vfghdgekgr lvvdglrare gslpgnstis irapvylgsp
     3121 psgkpkslpt nsfvgclknf qldskplytp sssfgvsscl ggplekgiyf seegghvvla
     3181 hsvllgpefk lvfsirprsl tgilihigsq pgkhlcvyle agkvtasmds gaggtstsvt
     3241 pkqslcdgqw hsvavtikqh ilhleldtds sytagqipfp pastqeplhl ggapanlttl
     3301 ripvwksffg clrnihvnhi pvpvtealev qgpvslngcp dq
//
LOCUS       XP_054174619             384 aa            linear   PRI 20-MAR-2023
DEFINITION  Golli-MBP isoform X1 [Homo sapiens].
ACCESSION   XP_054174619
VERSION     XP_054174619.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318644.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..384
                     /product="Golli-MBP isoform X1"
                     /calculated_mol_wt=41629
     CDS             1..384
                     /gene="MBP"
                     /coded_by="XM_054318644.1:604..1758"
                     /db_xref="GeneID:4155"
                     /db_xref="HGNC:HGNC:6925"
                     /db_xref="MIM:159430"
ORIGIN      
        1 mgnhagkrel naekastnse tnrgesekkr nlgelsrtts ednevfgead anqnngtssq
       61 dtavtdskrt adpknawqda hpadpgsrph lirlfsrdap gredntfkdr psesdelqti
      121 qedsaatses ldvmasqkrp sqrhgskyla tastmdharh gflprhrdtg ildsigrffg
      181 gdrgapkrgs gkdshhpart ahygslpqks hgrtqdenpv vhffknivtp rtpppsqgkg
      241 rglslsrfsw vgdertsigf lfrpsphspa tfvfcsvsva swppflssrd lsahswdraa
      301 lsstgemkrg lpfrkvwsla svpgtqpcka rsssprgfpg dvtglppreg atprprkclt
      361 ssnttsarsp rnphvevgla gpsq
//
LOCUS       XP_054175326             820 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA polymerase II subunit A C-terminal domain phosphatase isoform
            X7 [Homo sapiens].
ACCESSION   XP_054175326
VERSION     XP_054175326.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319351.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..820
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..820
                     /product="RNA polymerase II subunit A C-terminal domain
                     phosphatase isoform X7"
                     /calculated_mol_wt=88863
     CDS             1..820
                     /gene="CTDP1"
                     /gene_synonym="CCFDN; FCP1"
                     /coded_by="XM_054319351.1:194..2656"
                     /db_xref="GeneID:9150"
                     /db_xref="HGNC:HGNC:2498"
                     /db_xref="MIM:604927"
ORIGIN      
        1 mcpgssgrlf girflprsci sqlnsggafa agvhaadgrl rvvqmtlpwl wgaavgsrav
       61 lvrlegcshp vvmkglcaec gqdltqlqsk ngkqqvplst atvsmvhsvp elmvsseqae
      121 qlgredqqrl hrnrklvlmv dldqtlihtt eqhcqqmsnk gifhfqlgrg epmlhtrlrp
      181 hckdflekia klyelhvftf gsrlyahtia gfldpekklf shrilsrdec idpfsktgnl
      241 rnlfpcgdsm vciiddredv wkfapnlitv kkyvyfqgtg dmnappgsre sqtrkkvnhs
      301 rgtevsepsp pvrdpegvtq apgvepsngl ekparelngs eaatprdspr pgkpderdiw
      361 ppaqaptssq elagapepqg scaqggrvap gqrpaqgatg tdldfdlssd sesssesegt
      421 kssssasdge segkrgrqkp kaapegagal aqgsslepgr paapslpgea epgahapdke
      481 pelggqeege rdglcglgng cadrkeaete sqnselsgvt agesldqsme eeeeedtded
      541 dhliyleeil vrvhtdyyak ydrylnkeie eapdirkivp elkskvladv aiifsglhpt
      601 nfpiektreh yhatalgaki ltrlvlspda pdrathliaa ragtekvlqa qecghlhvvn
      661 pdwlwscler wdkveeqlfp lrddhtkaqr enspaafpdr egvpptalfh pmpvlpkaqp
      721 gpevriydsn tgklirtgar gppapssslp irqepssfrw ttslekaatt atarrgglrs
      781 rrrspspgsq gpagsgrsgh lrpargarqg aggpeatrgs
//
LOCUS       XP_054175922             596 aa            linear   PRI 20-MAR-2023
DEFINITION  calpain-12 isoform X9 [Homo sapiens].
ACCESSION   XP_054175922
VERSION     XP_054175922.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319947.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..596
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..596
                     /product="calpain-12 isoform X9"
                     /calculated_mol_wt=66250
     CDS             1..596
                     /gene="CAPN12"
                     /coded_by="XM_054319947.1:310..2100"
                     /db_xref="GeneID:147968"
                     /db_xref="HGNC:HGNC:13249"
                     /db_xref="MIM:608839"
ORIGIN      
        1 masssgrvti qlvdeeagvg agrlqlfrgq syeairaacl dsgilfrdpy fpagpdalgy
       61 dqlgpdseka kgvkwmrphe fcaepkfice dmsrtdvcqg slgncwflaa aasltlyprl
      121 lrrvvppgqd fqhgyagvfh fqlwqfgrwm dvvvddrlpv regklmfvrs eqrnefwapl
      181 lekayaklhg syevmrgghm neafvdftgg vgevlylrqn smglfsalrh alakeslvga
      241 talsdrgeyr teeglvkgha ysitgthkvf lgftkvrllr lrnpwgcvew tgawsdscpr
      301 wdtlptecrd allvkkedge fwmelrdfll hfdtvqicsl spevlgpspe gggwhvhtfq
      361 grwvrgfnsg gsqpnaetfw tnpqfrltll epdeeddede egpwggwgaa gargparggr
      421 tpkctvllsl iqrnrrrlra kgltyltvgf hvfqipeell glwdsprsha llprllradr
      481 splsarrdvt rrcclrpghy lvvpstahag deadftlrvf serrhtagdr rrdqrrpavs
      541 pgplpapgag vgaavsgagw rggrtqclsa pgltkhcpga cqgpylhpqr draqdl
//
LOCUS       XP_054178504             782 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 160 isoform X3 [Homo sapiens].
ACCESSION   XP_054178504
VERSION     XP_054178504.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322529.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..782
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..782
                     /product="zinc finger protein 160 isoform X3"
                     /calculated_mol_wt=89716
     CDS             1..782
                     /gene="ZNF160"
                     /gene_synonym="F11; HKr18; HZF5; KR18"
                     /coded_by="XM_054322529.1:1351..3699"
                     /db_xref="GeneID:90338"
                     /db_xref="HGNC:HGNC:12948"
                     /db_xref="MIM:600398"
ORIGIN      
        1 mlenywnlvs lglchfdmni ismleegkep wtvkscvkia rkprtrecvk gvvtdippkc
       61 tikdllpkek ssteavfhtv vlerhespdi edfsfkepqk nvhdfecqwr ddtgnykgvl
      121 maqkegkrdq rdrrdienkl mnnqlgvsfh shlpelqlfq gegkmyecnq vekstnngss
      181 vsplqqipss vqthrskkyh elnhfslltq rrkanscgkp ykcnecgkaf tqnsnltshr
      241 rihsgekpyk csecgktftv rsnltihqvi htgekpykch ecgkvfrhns ylathrriht
      301 gekpykcnec gkafrghsnl tthqlihtge kpfkcnecgk lftqnshlis hwrihtgekp
      361 ykcnecgkaf svrsslaihq tihtgekpyk cnecgkvfry nsylgrhrrv htgekpykcn
      421 ecgkafsmhs nlathqviht gtkpfkcnec skvftqnsql anhrrihtge kpykcnecgk
      481 afsvrssltt hqaihsgekp ykciecgksf tqkshlrshr gihsgekpyk cnecgkvfaq
      541 tsqlarhwrv htgekpykcn dcgrafsdrs sltfhqaiht gekpykchec gkvfrhnsyl
      601 athrrihtge kpykcnecgk afsmhsnltt hkvihtgekp ykcnqcgkvf tqnshlanhq
      661 rthtgekpyr cnecgkafsv rssltthqai htgkkpykcn ecgkvftqna hlanhrriht
      721 gekpyrctec gkafrvrssl tthmaihtge krykcnecgk vfrqssnlas hhrmhtgekp
      781 yk
//
LOCUS       XP_054196434            1132 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-4(IV) chain isoform X14 [Homo sapiens].
ACCESSION   XP_054196434
VERSION     XP_054196434.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340459.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1132
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1132
                     /product="collagen alpha-4(IV) chain isoform X14"
                     /calculated_mol_wt=110362
     CDS             1..1132
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; CA44"
                     /coded_by="XM_054340459.1:228..3626"
                     /db_xref="GeneID:1286"
                     /db_xref="HGNC:HGNC:2206"
                     /db_xref="MIM:120131"
ORIGIN      
        1 mvvsrvkghk gergpdgppg fpgqpgshgr dghagekgdp gppgdhedat pggkgfpgpl
       61 gppgkagpvg ppglgfpgpp gerghpgvpg hpgvrgpdgl kgqkgdtisc nvtypgrhgp
      121 pgfdgppgpk gfpgpqgapg lsgsdghkgr pgtpgtaeip gppgfrgdmg dpgfggekgs
      181 spvgppgppg spgvngqkgi pgdpafghlg ppgkrglsgv pgikgprgdp gcpgaegpag
      241 ipgflglkgp kgreghagfp gvpgppghsc ergapgipgq pglpgypgsp gapggkgqpg
      301 dvgppgpagm kglpglpgrp gahgppglpg ipgpfgddgl pgppgpkgpr glpgfpgfpg
      361 ergkpgaegc pgakgepgek gmsglpgdrg lrgakgaigp pgdegemaii sqkgtpgepg
      421 ppgddgfpge rgdkgtpgmq grrgelgryg ppgfhrgepg ekgqpgppgp pgppgstglr
      481 gfigfpglpg dqgepgspgp pgfsgidgar gpkgnkgdpa shfgppgpkg epgspgcpgh
      541 fgasgeqglp giqgprgspg rpgppgssgp pgcpgdhgmp glrgqpgemg dpgprglqgd
      601 pgipgppgik gpsgspglng lhglkgqkgt kgasglhdvg ppgpvgipgl kgergdpgsp
      661 gisppgprgk kgppgppgss gppgpagatg rapkdipdpg ppgdqgppgp dgprgapgpp
      721 glpgsvdllr gepgdcglpg ppgppgppgp pgykgfpgcd gkdgqkgpvg fpgpqgphgf
      781 pgppgekglp gppgrkgptg lpgprgepgp padvddcpri pglpgapgmr gpegamglpg
      841 mrgpsgpgck gepgldgrrg vdgvpgspgp pgrkgdtged gypggpgppg pigdpgpkgf
      901 gpgylggfll vlhsqtdqep tcplgmprlw tgysllyleg qekahnqdlg lagsclpvfs
      961 tlpfaycnih qvchyaqrnd rsywlasaap lpmmplseea irpyvsrcav ceapaqavav
     1021 hsqdqsippc pqtwrslwig ysflmhtgag dqgggqalms pgscledfra apflecqgrq
     1081 gtchffanky sfwlttvkad lqfssapapd tlkesqaqrq kisrcqvcvk ys
//
LOCUS       XP_054179821             411 aa            linear   PRI 20-MAR-2023
DEFINITION  cadherin-22 isoform X5 [Homo sapiens].
ACCESSION   XP_054179821
VERSION     XP_054179821.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323846.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..411
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..411
                     /product="cadherin-22 isoform X5"
                     /calculated_mol_wt=44787
     CDS             1..411
                     /gene="CDH22"
                     /gene_synonym="C20orf25; dJ998H6.1"
                     /coded_by="XM_054323846.1:644..1879"
                     /db_xref="GeneID:64405"
                     /db_xref="HGNC:HGNC:13251"
                     /db_xref="MIM:609920"
ORIGIN      
        1 mrprpegrgl ragvalspal llllllpppp tllgrlwaag tpspsapgar qdgalgagrv
       61 krgwvwnqff vveeytgtep lyvgkihsds degdgaikyt isgegagtif lideltgdih
      121 amerldreqk tfytlraqar dratnrllep esefiikvqd indseprflh gpyigsvael
      181 sptgtsvmqv masdaddpty gssarlvysv ldgehhftvd pktgvirtav pdldresqer
      241 yevviqatdm agqlgglsgs ttvtivvtdv ndnpprfpqk myqfsiqesa pigtavgrvk
      301 aedsdvgent dmtyhlkdes ssggdvfkvt tdsdtqeaii vvqkrldfes qpvhtvilea
      361 lnkfvdprfa dlgtfrdqai vrvavtdvde ppefrppsgl levqedaqvr h
//
LOCUS       XP_054181852             418 aa            linear   PRI 20-MAR-2023
DEFINITION  somatostatin receptor type 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054181852
VERSION     XP_054181852.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325877.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..418
                     /product="somatostatin receptor type 3 isoform X1"
                     /calculated_mol_wt=45716
     CDS             1..418
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /coded_by="XM_054325877.1:179..1435"
                     /db_xref="GeneID:6753"
                     /db_xref="HGNC:HGNC:11332"
                     /db_xref="MIM:182453"
ORIGIN      
        1 mdmlhpssvs ttsepenass awppdatlgn vsagpspagl avsgvliplv ylvvcvvgll
       61 gnslviyvvl rhtaspsvtn vyilnlalad elfmlglpfl aaqnalsywp fgslmcrlvm
      121 avdginqfts ifcltvmsvd rylavvhptr sarwrtapva rtvsaavwva savvvlpvvv
      181 fsgvprgmst chmqwpepaa awragfiiyt aalgffgpll viclcylliv vkvrsagrrv
      241 wapscqrrrr serrvtrmvv avvalfvlcw mpfyvlnivn vvcplpeepa ffglyflvva
      301 lpyanscanp ilygflsyrf kqgfrrvllr psrrvrsqep tvgppektee edeeeedgee
      361 sreggkgkem ngrvsqitqp gtsgqerpps rvaskeqqll pqeastgeks stmrisyl
//
LOCUS       XP_054200893             293 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRAIP isoform X2 [Homo sapiens].
ACCESSION   XP_054200893
VERSION     XP_054200893.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344918.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..293
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..293
                     /product="E3 ubiquitin-protein ligase TRAIP isoform X2"
                     /calculated_mol_wt=32463
     CDS             1..293
                     /gene="TRAIP"
                     /gene_synonym="RNF206; SCKL9; TRIP"
                     /coded_by="XM_054344918.1:133..1014"
                     /db_xref="GeneID:10293"
                     /db_xref="HGNC:HGNC:30764"
                     /db_xref="MIM:605958"
ORIGIN      
        1 mdgqafpfpp pstpapdkek rdsqviidtl rdtleernat vvslqqalgk aemlcstlkl
       61 qtvyseldqa klelksaqkd lqsadkeims lkkkltmlqe tlnlppvase tvdrlvlesp
      121 apvevnlklr rpsfrddidl natfdvdtpp arpsssqhgy yeklcleksh spiqdvpkki
      181 ckgprkesql slggqscage pdeelvgafp ifvrnailgq kqpkrprses scskdvvrtg
      241 fdglggrtkf iqptdtvmir plpvkpktkv kqrvrvktvp slfqakldtf lws
//
LOCUS       XP_054201107             551 aa            linear   PRI 20-MAR-2023
DEFINITION  oxysterol-binding protein-related protein 10 isoform X11 [Homo
            sapiens].
ACCESSION   XP_054201107
VERSION     XP_054201107.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345132.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..551
                     /product="oxysterol-binding protein-related protein 10
                     isoform X11"
                     /calculated_mol_wt=61653
     CDS             1..551
                     /gene="OSBPL10"
                     /gene_synonym="ORP10; OSBP9"
                     /coded_by="XM_054345132.1:1182..2837"
                     /db_xref="GeneID:114884"
                     /db_xref="HGNC:HGNC:16395"
                     /db_xref="MIM:606738"
ORIGIN      
        1 mlnnmcevtq rvigivktqt qliflmmnqv egqqknlvha ieslpgsgpl taldqdllll
       61 katsaatlsc lgeclnllqq svhqagqpsq kpgasenilg whgskshste qlkngtlgsl
      121 psasanitwa ilpnsaedeq tsqpepepns gselvlsede ksdnedkeet elgvmedqrs
      181 iilhlisqlk lgmdltkvvl ptfilekrsl lemyadfmah pdlllaitag atpeervicf
      241 veyyltafhe grkgalakkp ynpiigetfh cswevpkdrv kpkrtasrsp aschehpmad
      301 dpsksyklrf vaeqvshhpp iscfycecee krlcvnthvw tkskfmgmsv gvsmigegvl
      361 rllehgeeyv ftlpsayars iltipwvelg gkvsincakt gysatvifht kpfyggkvhr
      421 vtaevkhnpt ntivckahge wngtleftyn ngetkvidtt tlpvypkkir plekqgpmes
      481 rnlwrevtry lrlgdidaat eqkrhleekq rveerkrenl rtpwkpkyfi qevtlppvig
      541 plprrelvlr g
//
LOCUS       XP_054201607             361 aa            linear   PRI 20-MAR-2023
DEFINITION  kelch domain-containing protein 8B isoform X3 [Homo sapiens].
ACCESSION   XP_054201607
VERSION     XP_054201607.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345632.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..361
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..361
                     /product="kelch domain-containing protein 8B isoform X3"
                     /calculated_mol_wt=38225
     CDS             1..361
                     /gene="KLHDC8B"
                     /gene_synonym="CHL"
                     /coded_by="XM_054345632.1:223..1308"
                     /db_xref="GeneID:200942"
                     /db_xref="HGNC:HGNC:28557"
                     /db_xref="MIM:613169"
ORIGIN      
        1 msagggrafa wqvfppmptc rvygtvahqd ghllvlggcg raglpldtae tldmashtwl
       61 alaplptara gaaavvlgkq vlvvggvdev qspvaaveaf lmdegrwerr atlpqaamgv
      121 atverdgmvy alggmgpdta pqaqvrvyep rrdcwlslps mptpcygast flhgnkiyvl
      181 gtpipltggr qgklpvtafe afdleartwt rhpslpsrra fagcamaegs vfslgglqqp
      241 gphnfysrph fvntvemfdl ehgswtklpr slrmrdkrad fvvgslgghi vaigglgnqp
      301 cplgsvesfs larrrwealp amptarcscs slqagprlfv iggvaqgpsq avealclrdg
      361 v
//
LOCUS       XP_054203435            1554 aa            linear   PRI 20-MAR-2023
DEFINITION  roundabout homolog 2 isoform X4 [Homo sapiens].
ACCESSION   XP_054203435
VERSION     XP_054203435.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347460.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1554
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1554
                     /product="roundabout homolog 2 isoform X4"
                     /calculated_mol_wt=169954
     CDS             1..1554
                     /gene="ROBO2"
                     /gene_synonym="SAX3"
                     /coded_by="XM_054347460.1:409..5073"
                     /db_xref="GeneID:6092"
                     /db_xref="HGNC:HGNC:10250"
                     /db_xref="MIM:602431"
ORIGIN      
        1 mlssekveki trlellfvlm lflsgptlsk ltrtpwkgkp wkggsrlrqe dfpprivehp
       61 sdvivskgep ttlnckaegr ptptiewykd gervetdkdd prshrmllps gslfflrivh
      121 grrskpdegs yvcvarnylg eavsrnasle vallrddfrq nptdvvvaag epailecqpp
      181 rghpeptiyw kkdkvriddk eerisirggk lmisntrksd agmytcvgtn mvgerdsdpa
      241 eltvferptf lrrpinqvvl eeeavefrcq vqgdpqptvr wkkddadlpr grydikddyt
      301 lrikktmstd egtymciaen rvgkmeasat ltvrarpvap pqfvvrprdq ivaqgrtvtf
      361 pcetkgnpqp avfwqkegsq nllfpnqpqq pnsrcsvspt gdltitniqr sdagyyicqa
      421 ltvagsilak aqlevtdvlt drpppiilqg panqtlavdg tallkckatg dplpviswlk
      481 egftfpgrdp ratiqeqgtl qiknlrisdt gtytcvatss sgetswsavl dvtesgatis
      541 knydlsdlpg ppskpqvtdv tknsvtlswq pgtpgtlpas ayiieafsqs vsnswqtvan
      601 hvkttlytvr glrpntiylf mvrainpqgl sdpspmsdpv rtqdisppaq gvdhrqvqke
      661 lgdvlvrlhn pvvltpttvq vtwtvdrqpq fiqgyrvmyr qtsglqatss wqnldakvpt
      721 ersavlvnlk kgvtyeikvr pyfnefqgmd sesktvrtte eapsappqsv tvltvgsyns
      781 tsisvswdpp ppdhqngiiq eykiwclgne trfhinktvd aairsviigg lfpgiqyrve
      841 vaastsagvg vksepqpiii grrnevvite nnnsiteqit dvvkqpafia giggacwvil
      901 mgfsiwlywr rkkrkglsny avtfqrgdgg lmsngsrpgl lnagdpsypw ladswpatsl
      961 pvnnsnsgpn eignfgrgdv lppvpgqgdk tatmlsdgai yssidfttkt synsssqitq
     1021 atpyattqil hsnsihelav dlpdpqwkss iqqktdlmgf gyslpdqnkg gkggkkkknk
     1081 nsskpqknng stwanvplpp ppvqplpgte lehyaveqqe ngydsdswcp plpvqtylhq
     1141 gledeleedd drvptppvrg vasspaisfg qqstatltps preemqpmlq ahldeltray
     1201 qfdiakqtwh iqsnnqppqp pvpplgyvsg alisdletdv adddaddeee aleiprplra
     1261 ldqtpgssmd nldssvtgsm vngwgsasde drnfsshrss vgsssdgsif asgsfaqalv
     1321 aaadkagfrl dgtsltrtgk aftssqrprp tspfstdsnt saalsqsqrp rptkkhkggr
     1381 mdqqpalphr regmtddlpp ppdpppgqgl rqqigpsqqa gnvensaerk gsslerqhas
     1441 sledtkssld cpartslewq rqtqewisst erqedirkap hkqgvgseea lvpyskpsfp
     1501 spgghsssgt asskgstgpr ktevlraghq rnasdlldig ymgsnsqgqf tgel
//
LOCUS       XP_054204086             752 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-17 receptor C isoform X14 [Homo sapiens].
ACCESSION   XP_054204086
VERSION     XP_054204086.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348111.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..752
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..752
                     /product="interleukin-17 receptor C isoform X14"
                     /calculated_mol_wt=81764
     CDS             1..752
                     /gene="IL17RC"
                     /gene_synonym="CANDF9; IL17-RL; IL17RL"
                     /coded_by="XM_054348111.1:219..2477"
                     /db_xref="GeneID:84818"
                     /db_xref="HGNC:HGNC:18358"
                     /db_xref="MIM:610925"
ORIGIN      
        1 mpvpwfllsl algrspvvls lerlvgpqda thcspvslep wgdeerlrvq flaqqslsla
       61 pvtaatarta lsglsgadgr reergrgksw vclslggsgn tepqkkglsc rlwdsdilcl
      121 pgdivpapgp vlapthlqte lvlrcqketd cdlclrvavh lavhaslqaq vvlsfqaypt
      181 arcvllevqv paalvqfgqs vgsvvydcfe aalgsevriw sytqpryeke lnhtqqlpal
      241 pwlnvsadgd nvhlvlnvse eqhfglslyw nqvqgppkpr whknltgpqi itlnhtdlvp
      301 clciqvwple pdsvrtnicp fredprahqn lwqaarlrll tlqswlldap cslpaeaalc
      361 wrapggdpcq plvpplswen vtvdkvlefp llkghpnlcv qqvnsseklq lqeclwadsl
      421 gplkddvlll etrgpqdnrs lcalepsgct slpskastra arlgeyllqd lqsgqclqlw
      481 dddlgalwac pmdkyihkrw alvwlacllf aaalslilll kkdhakgwlr llkqdvrsga
      541 aargraalll ysaddsgfer lvgalasalc qlplrvavdl wsrrelsaqg pvawfhaqrr
      601 qtlqeggvvv llfspgaval csewlqdgvs gpgahgphda fraslscvlp dflqgrapgs
      661 yvgacfdrll hpdavpalfr tvpvftlpsq lpdflgalqq praprsgrlq eraeqvsral
      721 qpaldsyfhp pgtpapgrgv gpgagpgagd gt
//
LOCUS       XP_054204280            2955 aa            linear   PRI 20-MAR-2023
DEFINITION  kalirin isoform X12 [Homo sapiens].
ACCESSION   XP_054204280
VERSION     XP_054204280.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348305.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2955
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2955
                     /product="kalirin isoform X12"
                     /calculated_mol_wt=336077
     CDS             1..2955
                     /gene="KALRN"
                     /gene_synonym="ARHGEF24; CHD5; CHDS5; DUET; DUO; HAPIP;
                     TRAD"
                     /coded_by="XM_054348305.1:373..9240"
                     /db_xref="GeneID:8997"
                     /db_xref="HGNC:HGNC:4814"
                     /db_xref="MIM:604605"
ORIGIN      
        1 mnppegaaee ggaadsdvda ffrtgsfrnd glkasdvlpi lkekvafvsg grdkrggpil
       61 tfparsnhdr irqedlrklv tylasvpsed vckrgftvii dmrgskwdli kpllktlqea
      121 fpaeihvali ikpdnfwqkq ktnfgsskfi fetsmvsveg ltklvdpsql teefdgsldy
      181 nheewielrl sleeffnsav hllsrledlq emlarkefpv dvegsrrlid ehtqlkkkvl
      241 kapveeldre gqrllqcirc sdgfsgrnci pgsadfqslv pkitslldkl hstrqhlhqm
      301 whvrklkldq cfqlrlfeqd aekmfdwish nkelflqsht eigvsyqyal dlqtqhnhfa
      361 mnsmnayvni nrimsvasrl seaghyasqq ikqistqldq ewksfaaald erstilamsa
      421 vfhqkaeqfl sgvdawckmc segglpsemq dlelaihhhq tlyeqvtqay tevsqdgkal
      481 ldvlqrplsp gnsesltata nyskavhqvl dvvhevlhhq rrlesiwqhr kvrlhqrlql
      541 cvfqqdvqqv ldwienhgea flskhtgvgk slhraralqk rhddfeevaq ntytnadkll
      601 eaaeqlaqtg ecdpeeiyka arhlevriqd fvrrveqrkl lldmsvsfht htkelwtwme
      661 dlqkemledv cadsvdavqe likqfqqqqt atldatlnvi kegedliqql rsappslgep
      721 seardsavsn nktphsssis hiesvlqqld daqvqmeelf herkikldif lqlrifeqyt
      781 ievtaeldaw nedllrqmnd fntedltlae qrlqrhterk lamnnmtfev iqqgqdlhqy
      841 itevqasgie licekdidla aqvqellefl hekqheleln aeqthkrleq clqlrhlqae
      901 vkqvlgwirn gesmlnaslv nasslseaeq lqreheqfql aieslfhats lqkthqsalq
      961 vqqkaevllq aghydadair ecaekvalhw qqlmlkmedr lklvnasvaf yktseqvcsv
     1021 lesleqeyrr dedwcggrdk lgpaaeidhv ipliskhleq keaflkactl arrnaevflk
     1081 yihrnnvsmp svashtrgpe qqvkailsel lqrenrvlhf wtlkkrrldq cqqyvvfers
     1141 akqaldwiqe tgefylstht stgetteetq ellkeygefr vpakqtkekv klliqladsf
     1201 vekghihate irkwvttvdk hyrdfslrmg kyryslekal gvntednkdl eldiipasls
     1261 drevklrdan hevneekrks arkkefimae llqtekayvr dlhecletyl wemtsgveei
     1321 ppgilnkehi ifgniqeiyd fhnniflkel ekyeqlpedv ghcfvtwadk fqmyvtyckn
     1381 kpdsnqlile hagtffdeiq qrhglansis sylikpvqri tkyqlllkel ltcceegkge
     1441 lkdglevmls vpkkandamh vsmlegfden ldvqgelilq dafqvwdpks lirkgrerhl
     1501 flfeislvfs keikdssght kyvyknkllt selgvtehve gdpckfalws grtpssdnkt
     1561 vlkasnietk qewiknirev iqeriihlkg alkeplqlpk tpakqrnnsk rdgvedidsq
     1621 gdgssqpdti siasrtsqnt vdsdklsggc eltvvlqdfs aghsseltiq vgqtveller
     1681 pserpgwclv rtterspple glvpssalci shsrssvemd cffplvkday shsssenggk
     1741 sesvanlqaq pslnsihssp gpkrstntlk kwltspvrrl nsgkadgnik kqkkvrdgrk
     1801 sfdlgspkpg dettpqgdsa deskkgwged epdeeshtpl pppmkifdnd ptqdemsleg
     1861 ssyrgslkdp agclnegmap ptppknpeee qkakalrgrm fvlnelvqte kdyvkdlgiv
     1921 vegfmkriee kgvpedmrgk dkivfgnihq iydwhkdffl aelekciqeq drlaqlfikh
     1981 erklhiyvwy cqnkprseyi vaeydayfee vkqeinqrlt lsdflikpiq ritkyqlllk
     2041 dflrysekag lecsdiekav elmclvpkrc ndmmnlgrlq gfegtltaqg kllqqdtfyv
     2101 ieldagmqsr tkerrvflfe qivifsellr kgsltpgymf krsikmnylv leenvdndpc
     2161 kfalmnrets ervvlqaana diqqawvqdi nqvletqrdf lnalqspiey qrkerstavm
     2221 rsqparlpqa sprpyssvpa gsekppkgss ynpplpplki stsngspgfe yhqpgdkfea
     2281 skqndlggcn gtssmavikd yyalkeneic vsqgevvqvl avnqqnmclv yqpasdhspa
     2341 aegwvpgsil apltkataae ssdgsikksc swhtlrmrkr aeventgkne atgprkpkdi
     2401 lgnkvsvket nsseesecdd ldpntsmeil npnfiqevap eflvplvdvt cllgdtvilq
     2461 ckvcgrpkpt itwkgpdqni ldtdnssaty tvsscdsgei tlkicnlmpq dsgiytciat
     2521 ndhgttstsa tvkvqgvpaa pnrpiaqers ctsvilrwlp psstgnctis gytveyreeg
     2581 sqiwqqsvas tldtylvied lspgcpyqfr vsasnpwgis lpsepsefvr lpeydaaadg
     2641 atiswkenfd saytelneig rgrfsivkkc ihkatrkdva vkfvskkmkk keqaaheaal
     2701 lqhlqhpqyi tlhdtyespt syililelmd dgrlldylmn hdelmeekva fyirdimeal
     2761 qylhncrvah ldikpenlli dlripvprvk lidledavqi sghfhihhll gnpefaapev
     2821 iqgipvslgt diwsigvlty vmlsgvspfl deskeetcin vcrvdfsfph eyfcgvsnaa
     2881 rdfinvilqe dfrrrptaat clqhpwlqph ngsyskipld tsrlacfier rkhqndvrpi
     2941 pnvksyivnr vnqgt
//
LOCUS       XP_054205418            1555 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 131-like isoform X28 [Homo sapiens].
ACCESSION   XP_054205418
VERSION     XP_054205418.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349443.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1555
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1555
                     /product="transmembrane protein 131-like isoform X28"
                     /calculated_mol_wt=172823
     CDS             1..1555
                     /gene="TMEM131L"
                     /gene_synonym="KIAA0922"
                     /coded_by="XM_054349443.1:326..4993"
                     /db_xref="GeneID:23240"
                     /db_xref="HGNC:HGNC:29146"
                     /db_xref="MIM:616243"
ORIGIN      
        1 mlglrspecl vgclhshfvp ppparaprac lhavafaseg ppahtppivf lslarpwdgl
       61 csqeeketcf aieplpnvve lwqaeegell lptqgdseeg leepsqeqsf sdklfsgkgl
      121 hfqpsvldfg iqflghpvak ilhaynpsrd sevvvnsvfa aaghfhvppv pcrvipamgk
      181 tsfriiflpt eegsiesslf intssygvls yhvsgigtrr istegsakql pnayfllpkv
      241 qsiqlsqmqa ettntsllqv qlecslhnkv cqqlkgcyle sddvlrlqms imvtmenfsk
      301 efeentqhll dhlsivyvat desetsddsa vnmyilhsgn sliwiqdirh fsqrdalslq
      361 fepvllptst tnftkiasft ckaatscdsg iiedvkktth tptlkaclfs svaqgyfrmd
      421 ssatqfhiet hentsglwsi wyrnhfdrsv vlndvflske tkhmlkilnf tgplflppgc
      481 wnifslklav kdiainlftn vflttnigai faiplqiysa ptkegslgfe viahcgmhyf
      541 mgkskagnpn wngslsldqs twnvdselan klyerwkkyk ngdvckfgtd tqminfttge
      601 fqlteacpyl gthseesrfg ilhlhlqple mkrvgvvftp adygkvtsli lirnnltvid
      661 migvegfgar ellkvggrlp gaggslrfkv pestlmdcrr qlkdskqils itknfkveni
      721 gplpitvssl kingyncqgy gfevldchqf sldpntsrdi sivftpdfts swvirdlslv
      781 taadlefrft lnvtlphhll plcadvvpgp sweesfwrlt vffvslsllg viliafqqaq
      841 yilmefmktr qrqnassssq qnngpmdvis phsyksnckn fldtygpsdk grgknclpvn
      901 tpqsriqnaa krspatyghs qkkhkcsvyy skhktstaaa sststtteek qtsplgsslp
      961 aakedictda mrenwislry asginvnlqk nltlpknlln keentlknti vfsnpssecs
     1021 mkegiqtcmf pketdiktse ntaefkerel cplktskklp enhlprnspq yhqpdlpeis
     1081 rknngnnqqv pvknevdhce nlkkvdtkps sekkihktsr edmfsekqdi pfveqedpyr
     1141 kkklqekreg nlqnlnwsks rtcrknkkrg vapvsrppeq sdlklvcsdf erselssdin
     1201 vrswciqest revckadaei asslpaaqre aegyyqkpek kcvdkfcsds ssdcgsssgs
     1261 vrasrgswgs wsstsssdgd kkpmvdaqhf lpagdsvsqn dfpseapisl nlshnicnpm
     1321 tvnslpqyae pscpslpagp tgveedkgly spgdlwptpp vcvtsslnct lengvpcviq
     1381 esapvhnsfi dwsatcegqf ssaycpleln dynafpeenm nyangfpcpa dvqtdfidhn
     1441 sqstwntppn mpaawghasf issppyltst rslspmsglf gsiwapqsdv yenccpinpt
     1501 tehsthmenq avvckeyylg fnpfraymnl diwtttanrn anfplsrdss ycgnv
//
LOCUS       XP_054205882             738 aa            linear   PRI 20-MAR-2023
DEFINITION  amyloid beta precursor protein binding family B member 2 isoform X8
            [Homo sapiens].
ACCESSION   XP_054205882
VERSION     XP_054205882.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349907.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..738
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..738
                     /product="amyloid beta precursor protein binding family B
                     member 2 isoform X8"
                     /calculated_mol_wt=80900
     CDS             1..738
                     /gene="APBB2"
                     /gene_synonym="FE65L; FE65L1"
                     /coded_by="XM_054349907.1:1265..3481"
                     /db_xref="GeneID:323"
                     /db_xref="HGNC:HGNC:582"
                     /db_xref="MIM:602710"
ORIGIN      
        1 msevlpadsg vdtlavfmas sgttdvtnrn spatppntln lrsshnelln aeikhtetkn
       61 stppkcrkky altniqaamg lsdpaaqpll gngsaniklv kngenqlrka aeqgqqdpnk
      121 nlsptavini tseklegkep hpqdssscei lpsqprrtks flnyyadlet sareleqnqg
      181 nhhgtaeeks qpvqgqasti igngdlllqk pnrpqssped gqvatvsssp etkkdhpktg
      241 aktdcalhri qnlapsdees swttlsqdsa spsspdetad iwsdhsfqtd pdlppgwkrv
      301 sdiagtyywh iptgttqwer pvsipadlqg srkgslssvt psptpenedl haatvnpdps
      361 lkefegatlr yaslklrnap hpddddscsi nsdpeakcfa vrslgwvema eedlapgkss
      421 vavnncirql syckndirdt vgiwgegkdm ylilendmls lvdpmdrsvl hsqpivsirv
      481 wgvgrdngrd fayvardkdt rilkchvfrc dtpakaiats lheicskima erknakalac
      541 sslqeranvn ldvplqvdfp tpktelvqkf hvqylgmlpv dkpvgmdiln saienlmtss
      601 nkedwlsvnm nvadatvtvi sekneeevlv ecrvrflsfm gvgkdvhtfa fimdtgnqrf
      661 echvfwcepn agnvseavqa acmlryqkcl varppsqkvr pppppadsvt rrvttnvkrg
      721 vlslidtlkq krpvtemp
//
LOCUS       XP_054207516             903 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptopodin isoform X2 [Homo sapiens].
ACCESSION   XP_054207516
VERSION     XP_054207516.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351541.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..903
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..903
                     /product="synaptopodin isoform X2"
                     /calculated_mol_wt=96266
     CDS             1..903
                     /gene="SYNPO"
                     /coded_by="XM_054351541.1:556..3267"
                     /db_xref="GeneID:11346"
                     /db_xref="HGNC:HGNC:30672"
                     /db_xref="MIM:608155"
ORIGIN      
        1 megyseeasl lrhlekvase eeevplvvyl kenaalltan glhlsqnrea qqsspapppa
       61 evhspaadvn qnlaspsatl ttptsnsshn ppatdvnqnp patvvpqslp lssiqqnsse
      121 aqlpsngtgp askpstlcad gqpqapaeev rcstllidkv stpatttstf sreatlipss
      181 rppasdfmss sllidiqpnt lvvsadqems graaattptk vysevhftla kppsvvnrta
      241 rpfgiqapgg tsqmerspml errhfgekap apqppslpdr sprpqrhims rspmverrmm
      301 gqrspaserr plgnftappt ytetlstapl aswvrsppsy svlypssdpk sshlkgqavp
      361 asktgilees marrgsrksm ftfvekpkvt pnpdlldlvq tadekrrqrd qgevgveeep
      421 falgaeasnf qqepaprdra spaaaeevvp ewasclkspr iqakpkpkpn qnlseasgkg
      481 aelyarrqsr mekyviesss htpelarcps ptmslpsswk yptnapgafr vasrspartp
      541 paslyhgylp engvlrpept kqppyqlrps lfvlspikep akvspraasp akpssldlvp
      601 nlpkgalpps palprpsrss pglytspgqd slqptavspp yggdispvsp srawsprakq
      661 aprpsfstrn agieaqdrre slptsppwtp gasrppssld gwvspgpwep grgssmsspp
      721 plpppppmsp swsersvspl rpetearpps rqlqallarn iinaarrksa sprsagaenp
      781 rpfspprapp pppppppppp rmrspqparp gsaavpgaaf apiprsplpa gpssctsprs
      841 plpapprpfl yrrsptdsdv sldsedsgak spgilgynic prgwngslrl krgslpaeas
      901 ctt
//
LOCUS       XP_054211546             471 aa            linear   PRI 20-MAR-2023
DEFINITION  24-hydroxycholesterol 7-alpha-hydroxylase isoform X1 [Homo
            sapiens].
ACCESSION   XP_054211546
VERSION     XP_054211546.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355571.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..471
                     /product="24-hydroxycholesterol 7-alpha-hydroxylase
                     isoform X1"
                     /calculated_mol_wt=54403
     CDS             1..471
                     /gene="CYP39A1"
                     /coded_by="XM_054355571.1:237..1652"
                     /db_xref="GeneID:51302"
                     /db_xref="HGNC:HGNC:17449"
                     /db_xref="MIM:605994"
ORIGIN      
        1 melisptvii ilgclalfll lqrknlrrpp cikgwipwig vgfefgkapl efiekariky
       61 gpiftvfamg nrmtfvteee ginvflkskk vdfelavqni vyhtasipkn vflalhekly
      121 imlkgkmgtv nlhqftgqlt eelheqlenl gthgtmdlnn lvrhllypvt vnmlfnkslf
      181 stnkkkikef hqyfqvyded feygsqlpec llrnwskskk wflelfekni pdikacksak
      241 dnsmtllqat ldivetetsk enspnyglll lwaslsnavp vafwtlayvl shpdihkaim
      301 egissvfgka gkdkikvsed dlenlllikw cvletirlka pgvitrkvvk pveilnyiip
      361 sgdllmlspf wlhrnpkyfp epelfkperw kkanlekhsf ldcfmafgsg kfqcparktn
      421 rkeqheppdf frncslqsee shysrqshik lydlnggirr rdfsveenff e
//
LOCUS       XP_054215166            1358 aa            linear   PRI 20-MAR-2023
DEFINITION  cortactin-binding protein 2 isoform X4 [Homo sapiens].
ACCESSION   XP_054215166
VERSION     XP_054215166.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359191.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1358
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1358
                     /product="cortactin-binding protein 2 isoform X4"
                     /calculated_mol_wt=147183
     CDS             1..1358
                     /gene="CTTNBP2"
                     /gene_synonym="C7orf8; CORTBP2; Orf4"
                     /coded_by="XM_054359191.1:27..4103"
                     /db_xref="GeneID:83992"
                     /db_xref="HGNC:HGNC:15679"
                     /db_xref="MIM:609772"
ORIGIN      
        1 matdgascep dlsrapedaa gaaaeaakke fdvdtlskse lrmllsvmeg eleardlvie
       61 alrarrkevf iqerygrfnl ndpflalqrd yeagagdkek kpvctnplsi leavmahckk
      121 mqermsaqla aaesrqkkle meklqlqale qehkklaarl eeergknkqv vlmlvkeckq
      181 lsgkvieeaq kledvmakle eekkktnele eelsaekrrs temeaqmekq lsefdtereq
      241 lraklnreea httdlkeeid kmrkmieqlk rgsdskpsls lprktkdrrl vsisvgtegt
      301 vtrsvacqtd lvtenadhmk klpltmpvkp stgsplvsan akgsvctsat marpgidrqa
      361 sygdligasv pafpppsank ieengpstgs tpdptsstpp lpsnaappta qtpgiapqns
      421 qappmhslhs pcantslhpg lnpriqaarf rfqgnandpd qngnttqspp srdvsptsrd
      481 nlvakqlarn tvtqalsrft spqagapsrp gvpptgdvgt hppvgrtslk thgvarvdrg
      541 npppippkkp glsqtpspph pqlkviidss rasntgakvd nktvastpss lpqgnrvine
      601 enlpkssspq lppkpsidlt vapagcavsa latsqvgawp aatpglnqpa csdsslvipt
      661 tiafcssinp vsasscrpga sdsllvtasg wspsltpllm sggpaplagr ptllqqaaaq
      721 gnvtllsmll neegldinys cedghsalys aaknghtdcv rlllsaeaqv naadkngftp
      781 lcaaaaqghf ecvellisyd aninhaadgg qtplylackn gnkeciklll eagtnrsvkt
      841 tdgwtpvhaa vdtgnvdslk llmyhripah gnsfneeese ssvfdldgge espegiskpv
      901 vpadlinhan regwtaahia askgfkncle ilcrhgglep errdkcnrtv hdvatddckh
      961 llenlnalki plrisvgeie psnygsddle centicalni rkqtswddfs kavsqaltnh
     1021 fqaissdgww sledvtcnnt tdsniglsar sirsitlgnv pwsvgqsfaq spwdfmrknk
     1081 aehitvllsg pqegclssvt yasmiplqmm qnylrlveqy hnvifhgpeg slqdyivhql
     1141 alclkhrqma agfsceivra evdagfskeq lldlfissac lipvkqspsk kkiiiilenl
     1201 eksslsellr dflaplenrs tespctfqkg nglsecyyfh encflmgtia kaclqgsdll
     1261 vqqhfrwvql rwdgepmqgl lqrflrrkvv nkfkgqapsp cdpvckivdw alsvwrqlns
     1321 clarlgtpea llgpkyflsc pvvpghaqvt vkarpays
//
LOCUS       XP_054216774             610 aa            linear   PRI 20-MAR-2023
DEFINITION  integrator complex subunit 9 isoform X7 [Homo sapiens].
ACCESSION   XP_054216774
VERSION     XP_054216774.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360799.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..610
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..610
                     /product="integrator complex subunit 9 isoform X7"
                     /calculated_mol_wt=68487
     CDS             1..610
                     /gene="INTS9"
                     /gene_synonym="CPSF2L; INT9; RC74"
                     /coded_by="XM_054360799.1:88..1920"
                     /db_xref="GeneID:55756"
                     /db_xref="HGNC:HGNC:25592"
                     /db_xref="MIM:611352"
ORIGIN      
        1 mklyclsghp tlpcnvlkfk sttimldcgl dmtstlnflp lplvqsprls nlpgwslkdg
       61 nafldkteli dlstvdvili snyhcmmalp yitehtgftg tvyateptvq igrllmeelv
      121 nfiervpkaq saslwknkdi qrllpsplkd avevstwrrc ytmqevnsal skiqlvgysq
      181 kipmdqaslk nsdvlvltgl tqiptanpdg mvgefcsnla ltvrnggnvl vpcypsgviy
      241 dlleclyqyi dsaglssvpl yfispvanss lefsqifaew lchnkqskvy lpeppfphae
      301 liqtnklkhy psihgdfsnd frqpcvvftg hpslrfgdvv hfmelwgkss lntviftepd
      361 fsylealapy qplamkciyc pidtrlnfiq vskllkevqp lhvvcpeqyt qpppaqshrm
      421 dlmidcqppa msyrraevla lpfkrryeki eimpeladsl vpmeikpgis latvsavlht
      481 kdnkhllqpp prpaqptsgk krkrvsddvp dckvlkplls gsipveqfvq tlekisqmcs
      541 lpspplsfll eqhgfsdikv edtakghivl lqeaetliqi eedsthiicd ndemlrvrlr
      601 dlvlkflqkf
//
LOCUS       XP_054182353             581 aa            linear   PRI 20-MAR-2023
DEFINITION  ecto-NOX disulfide-thiol exchanger 2 isoform X5 [Homo sapiens].
ACCESSION   XP_054182353
VERSION     XP_054182353.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326378.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..581
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..581
                     /product="ecto-NOX disulfide-thiol exchanger 2 isoform X5"
                     /calculated_mol_wt=66490
     CDS             1..581
                     /gene="ENOX2"
                     /gene_synonym="APK1; COVA1; tNOX"
                     /coded_by="XM_054326378.1:62..1807"
                     /db_xref="GeneID:10495"
                     /db_xref="HGNC:HGNC:2259"
                     /db_xref="MIM:300282"
ORIGIN      
        1 mtlpmsdpta watamnnlgm aplgiagqpi lpdfdpalgm mtgippitpm mpglgivppp
       61 ippdmpvvke iihcksctlf ppnpnlpppa trerppgckt vfvgglpeng teqiivevfe
      121 qcgeiiairk skknfchirf aeeymvdkal ylsgyrirlg sstdkkdtgr lhvdfaqard
      181 dlyeweckqr mlareerhrr rmeeerlrpp spppvvhysd hecsivaekl kddskfseav
      241 qtlltwierg evnrrsannf ysmiqsansh vrrlvnekaa hekdmeeake kfkqalsgil
      301 iqfeqivavy hsaskqkawd hftkaqrkni svwckqaeei rnihndelmg irreeemems
      361 ddeieemtet keteesalvs qaealkeend slrwqldayr nevellkqeq gkvhreddpn
      421 keqqlkllqq alqgmqqhll kvqeeykkke aeleklkddk lqvekmlenl kekescasrl
      481 casnqdseyp lektmnsspi ksereallvg iistflhvhp fgasieyics ylhrldnkic
      541 tsdveclmgr lqhtfkqemt gvgaslekrw kfcgfeglkl t
//
LOCUS       XP_054182515             276 aa            linear   PRI 20-MAR-2023
DEFINITION  fatty-acid amide hydrolase 2 isoform X11 [Homo sapiens].
ACCESSION   XP_054182515
VERSION     XP_054182515.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326540.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..276
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..276
                     /product="fatty-acid amide hydrolase 2 isoform X11"
                     /calculated_mol_wt=30324
     CDS             1..276
                     /gene="FAAH2"
                     /gene_synonym="AMDD"
                     /coded_by="XM_054326540.1:150..980"
                     /db_xref="GeneID:158584"
                     /db_xref="HGNC:HGNC:26440"
                     /db_xref="MIM:300654"
ORIGIN      
        1 mapsftariq lfllralgfl iglvgraalv lggpkfaskt prpvteplll lsgmqlakli
       61 rqrkvkcidv vqayinrikd vnpmingivk yrfeeamkea havdqklaek qedeatlenk
      121 wpflgvpltv keafqlqgge gctlaaacsv igvgsdiggs irmpaffngi fghkpspgvv
      181 pnkgqfplav gaqelflctg pmcryaedla pmlkvmagpg ikrlkldtkv hlkdlkfywm
      241 ehdggsflms kvdqdlimtq kklitwkqwk tkkalt
//
LOCUS       NP_001375290            1220 aa            linear   PRI 22-MAR-2023
DEFINITION  plasma membrane calcium-transporting ATPase 3 isoform 3b [Homo
            sapiens].
ACCESSION   NP_001375290
VERSION     NP_001375290.1
DBSOURCE    REFSEQ: accession NM_001388361.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1220)
  AUTHORS   Vallese F, Maso L, Giamogante F, Poggio E, Barazzuol L, Salmaso A,
            Lopreiato R, Cendron L, Navazio L, Zanni G, Weber Y,
            Kovacevic-Preradovic T, Keren B, Torraco A, Carrozzo R, Peretto F,
            Peggion C, Ferro S, Marin O, Zanotti G, Cali T, Brini M and
            Carafoli E.
  TITLE     The ataxia-linked E1081Q mutation affects the sub-plasma membrane
            Ca2+-microdomains by tuning PMCA3 activity
  JOURNAL   Cell Death Dis 13 (10), 855 (2022)
   PUBMED   36207321
  REMARK    GeneRIF: The ataxia-linked E1081Q mutation affects the sub-plasma
            membrane Ca(2+)-microdomains by tuning PMCA3 activity.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1220)
  AUTHORS   Vicario M, Cali T, Cieri D, Vallese F, Bortolotto R, Lopreiato R,
            Zonta F, Nardella M, Micalizzi A, Lefeber DJ, Valente EM, Bertini
            E, Zanotti G, Zanni G, Brini M and Carafoli E.
  TITLE     A novel PMCA3 mutation in an ataxic patient with hypomorphic
            phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical
            characterization of the pump defect
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1863 (12), 3303-3312 (2017)
   PUBMED   28807751
  REMARK    GeneRIF: Authors report a novel PMCA3 mutation (G733R substitution)
            in the catalytic P-domain of the pump in a patient affected by
            non-progressive ataxia, muscular hypotonia, dysmetria and
            nystagmus.
REFERENCE   3  (residues 1 to 1220)
  AUTHORS   Cali T, Frizzarin M, Luoni L, Zonta F, Pantano S, Cruz C, Bonza MC,
            Bertipaglia I, Ruzzene M, De Michelis MI, Damiano N, Marin O, Zanni
            G, Zanotti G, Brini M, Lopreiato R and Carafoli E.
  TITLE     The ataxia related G1107D mutation of the plasma membrane Ca2+
            ATPase isoform 3 affects its interplay with calmodulin and the
            autoinhibition process
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1863 (1), 165-173 (2017)
   PUBMED   27632770
  REMARK    GeneRIF: The ataxia related G1107D mutation of the PMCA 3 impairs
            its calcium pumping function. The mutation affects the interplay of
            calmodulin with its binding domain on the pump, decreasing its
            stimulation.
REFERENCE   4  (residues 1 to 1220)
  AUTHORS   Tauber P, Aichinger B, Christ C, Stindl J, Rhayem Y, Beuschlein F,
            Warth R and Bandulik S.
  TITLE     Cellular Pathophysiology of an Adrenal Adenoma-Associated Mutant of
            the Plasma Membrane Ca(2+)-ATPase ATP2B3
  JOURNAL   Endocrinology 157 (6), 2489-2499 (2016)
   PUBMED   27035656
  REMARK    GeneRIF: In summary, the APA-associated ATP2B3(Leu425_Val426del)
            mutant promotes aldosterone production by at least 2 different
            mechanisms: 1) a reduced Ca(2+) export due to the loss of the
            physiological pump function; and 2) an increased Ca(2+) influx due
            to opening of depolarization-activated Ca(2+) channels as well as a
            possible Ca(2+) leak through the mutated pump.
REFERENCE   5  (residues 1 to 1220)
  AUTHORS   Fernandes-Rosa FL, Giscos-Douriez I, Amar L, Gomez-Sanchez CE,
            Meatchi T, Boulkroun S and Zennaro MC.
  TITLE     Different Somatic Mutations in Multinodular Adrenals With
            Aldosterone-Producing Adenoma
  JOURNAL   Hypertension 66 (5), 1014-1022 (2015)
   PUBMED   26351028
  REMARK    GeneRIF: Different mutations (KCNJ5, ATP1A1, ATP2B3, and CACNA1D)
            are found in different aldosterone-producing nodules from the same
            adrenal, suggesting that somatic mutations are independent events
            triggered by mechanisms that remain to be identified.
REFERENCE   6  (residues 1 to 1220)
  AUTHORS   Moller JV, Juul B and le Maire M.
  TITLE     Structural organization, ion transport, and energy transduction of
            P-type ATPases
  JOURNAL   Biochim Biophys Acta 1286 (1), 1-51 (1996)
   PUBMED   8634322
  REMARK    Review article
REFERENCE   7  (residues 1 to 1220)
  AUTHORS   Wang MG, Yi H, Hilfiker H, Carafoli E, Strehler EE and McBride OW.
  TITLE     Localization of two genes encoding plasma membrane Ca2+ ATPases
            isoforms 2 (ATP2B2) and 3 (ATP2B3) to human chromosomes 3p26-->p25
            and Xq28, respectively
  JOURNAL   Cytogenet Cell Genet 67 (1), 41-45 (1994)
   PUBMED   8187550
REFERENCE   8  (residues 1 to 1220)
  AUTHORS   Stauffer TP, Hilfiker H, Carafoli E and Strehler EE.
  TITLE     Quantitative analysis of alternative splicing options of human
            plasma membrane calcium pump genes
  JOURNAL   J Biol Chem 268 (34), 25993-26003 (1993)
   PUBMED   8245032
  REMARK    Erratum:[J Biol Chem. 1994 Dec 16;269(50):32022. PMID: 7989379]
REFERENCE   9  (residues 1 to 1220)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
REFERENCE   10 (residues 1 to 1220)
  AUTHORS   Brandt P, Neve RL, Kammesheidt A, Rhoads RE and Vanaman TC.
  TITLE     Analysis of the tissue-specific distribution of mRNAs encoding the
            plasma membrane calcium-pumping ATPases and characterization of an
            alternately spliced form of PMCA4 at the cDNA and genomic levels
  JOURNAL   J Biol Chem 267 (7), 4376-4385 (1992)
   PUBMED   1531651
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U82695.3 and AF274858.3.
            
            Summary: The protein encoded by this gene belongs to the family of
            P-type primary ion transport ATPases characterized by the formation
            of an aspartyl phosphate intermediate during the reaction cycle.
            These enzymes remove bivalent calcium ions from eukaryotic cells
            against very large concentration gradients and play a critical role
            in intracellular calcium homeostasis. The mammalian plasma membrane
            calcium ATPase isoforms are encoded by at least four separate genes
            and the diversity of these enzymes is further increased by
            alternative splicing of transcripts. The expression of different
            isoforms and splice variants is regulated in a developmental,
            tissue- and cell type-specific manner, suggesting that these pumps
            are functionally adapted to the physiological needs of particular
            cells and tissues. This gene encodes the plasma membrane calcium
            ATPase isoform 3. Alternatively spliced transcript variants
            encoding different isoforms have been identified. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: Variants 2 and 4 encode the same isoform (3b).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: U60414.1, BC130009.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1220
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..1220
                     /product="plasma membrane calcium-transporting ATPase 3
                     isoform 3b"
                     /EC_number="7.2.2.10"
                     /note="plasma membrane calcium pump; plasma membrane
                     calcium-transporting ATPase 3; plasma membrane calcium
                     ATPase; cilia and flagella associated protein 39; ATPase,
                     Ca++ transporting, plasma membrane 3"
                     /calculated_mol_wt=134067
     Region          1..23
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     Site            8
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64568; propagated from
                     UniProtKB/Swiss-Prot (Q16720.3)"
     Region          27..1061
                     /region_name="ATPase-IIB_Ca"
                     /note="plasma-membrane calcium-translocating P-type
                     ATPase; TIGR01517"
                     /db_xref="CDD:273668"
     Site            98..118
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     Site            156..176
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     Region          298..355
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     Site            365..384
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     Site            418..435
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     Site            850..869
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     Site            880..900
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     Site            921..943
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     Site            962..983
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     Site            1003..1024
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     Site            1035..1056
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     Site            1079
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q64568; propagated from
                     UniProtKB/Swiss-Prot (Q16720.3)"
     Region          1097..1114
                     /region_name="Calmodulin-binding subdomain A.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     Region          1100..1146
                     /region_name="ATP_Ca_trans_C"
                     /note="Plasma membrane calcium transporter ATPase C
                     terminal; pfam12424"
                     /db_xref="CDD:432545"
     Site            1113
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PKC. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     Region          1115..1124
                     /region_name="Calmodulin-binding subdomain B.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     Region          1166..1186
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3)"
     CDS             1..1220
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /coded_by="NM_001388361.1:361..4023"
                     /note="isoform 3b is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS35440.1"
                     /db_xref="GeneID:492"
                     /db_xref="HGNC:HGNC:816"
                     /db_xref="MIM:300014"
ORIGIN      
        1 mgdmanssie fhpkpqqqrd vpqaggfgct laelrtlmel rgaealqkie eaygdvsglc
       61 rrlktspteg ladntndlek rrqiygqnfi ppkqpktflq lvwealqdvt liilevaaiv
      121 slglsfyapp geeseacgnv sggaedegea eagwiegaai llsvicvvlv tafndwskek
      181 qfrglqsrie qeqkftvirn gqllqvpvaa lvvgdiaqvk ygdllpadgv liqandlkid
      241 essltgesdh vrksadkdpm llsgthvmeg sgrmvvtavg vnsqtgiift llgaggeeee
      301 kkdkkgkqqd gamessqtka kkqdgavame mqplksaegg emeerekkka napkkeksvl
      361 qgkltklavq igkaglvmsa itviilvlyf vietfvvegr twlaectpvy vqyfvkffii
      421 gvtvlvvavp eglplavtis laysvkkmmk dnnlvrhlda cetmgnatai csdktgtltt
      481 nrmtvvqsyl gdthykeipa psaltpkild llvhaisins ayttkilppe kegalprqvg
      541 nktecallgf vldlkrdfqp vreqipedkl ykvytfnsvr ksmstvirmp dggfrlfskg
      601 aseillkkct nilnsngelr gfrprdrddm vrkiiepmac dglrticiay rdfsagqepd
      661 wdnenevvgd ltciavvgie dpvrpevpea irkcqragit vrmvtgdnin taraiaakcg
      721 iiqpgedflc legkefnrri rnekgeieqe rldkvwpklr vlarssptdk htlvkgiids
      781 ttgeqrqvva vtgdgtndgp alkkadvgfa mgiagtdvak easdiiltdd nftsivkavm
      841 wgrnvydsis kflqfqltvn vvavivaftg acitqdsplk avqmlwvnli mdtfaslala
      901 teppteslll rkpygrdkpl isrtmmknil ghavyqlaii ftllfvgelf fdidsgrnap
      961 lhsppsehyt iifntfvmmq lfneinarki hgernvfdgi fsnpifctiv lgtfgiqivi
     1021 vqfggkpfsc splsteqwlw clfvgvgelv wgqviatipt sqlkclkeag hgpgkdemtd
     1081 eelaegeeei dhaerelrrg qilwfrglnr iqtqirvvka frsslyegle kpesktsihn
     1141 fmatpeflin dythniplid dtdvdeneer lrappppspn qnnnaidsgi yltthvtksa
     1201 tssvfssspg splhsvetsl
//
LOCUS       NP_001387065             402 aa            linear   PRI 24-MAR-2023
DEFINITION  Krueppel-like factor 12 isoform 1 [Homo sapiens].
ACCESSION   NP_001387065 XP_005266308
VERSION     NP_001387065.1
DBSOURCE    REFSEQ: accession NM_001400136.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 402)
  AUTHORS   Lu X, Han Y, Han Y, Huang M, You J, Liu Y, Ding Y and Zheng Y.
  TITLE     MicroRNA-650 suppresses KLF12 expression to regulate growth and
            metastasis of human ovarian cancer cells
  JOURNAL   Acta Biochim Pol 69 (4), 745-751 (2022)
   PUBMED   36272152
  REMARK    GeneRIF: MicroRNA-650 suppresses KLF12 expression to regulate
            growth and metastasis of human ovarian cancer cells.
REFERENCE   2  (residues 1 to 402)
  AUTHORS   Goos H, Kinnunen M, Salokas K, Tan Z, Liu X, Yadav L, Zhang Q, Wei
            GH and Varjosalo M.
  TITLE     Human transcription factor protein interaction networks
  JOURNAL   Nat Commun 13 (1), 766 (2022)
   PUBMED   35140242
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 402)
  AUTHORS   Liu Y, Liang L, Ji L, Zhang F, Chen D, Duan S, Shen H, Liang Y and
            Chen Y.
  TITLE     Potentiated lung adenocarcinoma (LUAD) cell growth, migration and
            invasion by lncRNA DARS-AS1 via miR-188-5p/ KLF12 axis
  JOURNAL   Aging (Albany NY) 13 (19), 23376-23392 (2021)
   PUBMED   34644678
  REMARK    GeneRIF: Potentiated lung adenocarcinoma (LUAD) cell growth,
            migration and invasion by lncRNA DARS-AS1 via miR-188-5p/ KLF12
            axis.
REFERENCE   4  (residues 1 to 402)
  AUTHORS   Liu D, Liang Y, Chen M, Yang F and Yao S.
  TITLE     Knockdown of circ_0075503 suppresses cell migration and invasion by
            regulating miR-15a-5p and KLF12 in endometriosis
  JOURNAL   Mol Cell Biochem 476 (10), 3845-3856 (2021)
   PUBMED   34117589
  REMARK    GeneRIF: Knockdown of circ_0075503 suppresses cell migration and
            invasion by regulating miR-15a-5p and KLF12 in endometriosis.
REFERENCE   5  (residues 1 to 402)
  AUTHORS   Wu G, Zhang A, Yang Y and Wu D.
  TITLE     Circ-RNF111 aggravates the malignancy of gastric cancer through
            miR-876-3p-dependent regulation of KLF12
  JOURNAL   World J Surg Oncol 19 (1), 259 (2021)
   PUBMED   34461926
  REMARK    GeneRIF: Circ-RNF111 aggravates the malignancy of gastric cancer
            through miR-876-3p-dependent regulation of KLF12.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 402)
  AUTHORS   Rozenblum E, Vahteristo P, Sandberg T, Bergthorsson JT, Syrjakoski
            K, Weaver D, Haraldsson K, Johannsdottir HK, Vehmanen P, Nigam S,
            Golberger N, Robbins C, Pak E, Dutra A, Gillander E, Stephan DA,
            Bailey-Wilson J, Juo SH, Kainu T, Arason A, Barkardottir RB,
            Nevanlinna H, Borg A and Kallioniemi OP.
  TITLE     A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer
            development: identification and characterization of candidate genes
  JOURNAL   Hum Genet 110 (2), 111-121 (2002)
   PUBMED   11935316
REFERENCE   7  (residues 1 to 402)
  AUTHORS   Schuierer M, Hilger-Eversheim K, Dobner T, Bosserhoff AK, Moser M,
            Turner J, Crossley M and Buettner R.
  TITLE     Induction of AP-2alpha expression by adenoviral infection involves
            inactivation of the AP-2rep transcriptional corepressor CtBP1
  JOURNAL   J Biol Chem 276 (30), 27944-27949 (2001)
   PUBMED   11373277
REFERENCE   8  (residues 1 to 402)
  AUTHORS   Zhu CH, Huang Y, Broman MT and Domann FE.
  TITLE     Expression of AP-2 alpha in SV40 immortalized human lung
            fibroblasts is associated with a distinct pattern of cytosine
            methylation in the AP-2 alpha promoter
  JOURNAL   Biochim Biophys Acta 1519 (1-2), 85-91 (2001)
   PUBMED   11406275
REFERENCE   9  (residues 1 to 402)
  AUTHORS   Roth C, Schuierer M, Gunther K and Buettner R.
  TITLE     Genomic structure and DNA binding properties of the human zinc
            finger transcriptional repressor AP-2rep (KLF12)
  JOURNAL   Genomics 63 (3), 384-390 (2000)
   PUBMED   10704285
REFERENCE   10 (residues 1 to 402)
  AUTHORS   Imhof A, Schuierer M, Werner O, Moser M, Roth C, Bauer R and
            Buettner R.
  TITLE     Transcriptional regulation of the AP-2alpha promoter by BTEB-1 and
            AP-2rep, a novel wt-1/egr-related zinc finger repressor
  JOURNAL   Mol Cell Biol 19 (1), 194-204 (1999)
   PUBMED   9858544
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356319.18, AL139036.12, AL159972.8, AL138713.12 and AL160032.14.
            On Jan 20, 2022 this sequence version replaced XP_005266308.1.
            
            Summary: Activator protein-2 alpha (AP-2 alpha) is a
            developmentally-regulated transcription factor and important
            regulator of gene expression during vertebrate development and
            carcinogenesis. The protein encoded by this gene is a member of the
            Kruppel-like zinc finger protein family and can repress expression
            of the AP-2 alpha gene by binding to a specific site in the AP-2
            alpha gene promoter. Repression by the encoded protein requires
            binding with a corepressor, CtBP1. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1295733.1,
                                           SRR14038197.680953.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000703967.1/ ENSP00000515592.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..402
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q22.1"
     Protein         1..402
                     /product="Krueppel-like factor 12 isoform 1"
                     /note="KLF12 zinc finger transcriptional repressor; AP-2
                     repressor; AP-2rep transcription factor; krueppel-like
                     factor 12; Kruppel like factor 12; transcriptional
                     repressor AP-2rep"
                     /calculated_mol_wt=44109
     Region          27..224
                     /region_name="KLF12_N"
                     /note="N-terminal domain of Kruppel-like factor 12;
                     cd21441"
                     /db_xref="CDD:410608"
     Region          79..125
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4X4.2)"
     Region          80..88
                     /region_name="9aaTAD, inactive.
                     /evidence=ECO:0000269|PubMed:31375868"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4X4.2)"
     Site            202
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4X4.2)"
     Region          217..254
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4X4.2)"
     Region          <228..401
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          268..314
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4X4.2)"
     Site            313
                     /site_type="methylation"
                     /note="N6-methylated lysine, by EHMT2.
                     /evidence=ECO:0000269|PubMed:18438403; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4X4.2)"
     Region          319..341
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(326,328,330,332..333,336..337,340,356,358,362..363,
                     366..367,370,384,386,388,390..391,394..395,398)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          349..371
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          363..388
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          379..399
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..402
                     /gene="KLF12"
                     /gene_synonym="AP-2rep; AP2REP; HSPC122"
                     /coded_by="NM_001400136.1:465..1673"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9449.1"
                     /db_xref="GeneID:11278"
                     /db_xref="HGNC:HGNC:6346"
                     /db_xref="MIM:607531"
ORIGIN      
        1 mnihmkrkti knintfenrm lmldgmpavr vktelleseq gspnvhnypd meavplllnn
       61 vkgeppedsl svdhfqtqte pvdlsinkar tsptavsssp vsmtasassp sststsssss
      121 srlassptvi tsvssassss tvltpgplva sasgvggqqf lhiihpvpps spmnlqsnkl
      181 shvhripvvv qsvpvvytav rspgnvnnti vvplledgrg hgkaqmdprg lsprqsksds
      241 ddddlpnvtl dsvnetgsta lsiaravqev hpspvsrvrg nrmnnqkfpc sispfsiest
      301 rrqrrsespd srkrrihrcd fegcnkvytk sshlkahrrt htgekpykct wegctwkfar
      361 sdeltrhyrk htgvkpfkca dcdrsfsrsd hlalhrrrhm lv
//
LOCUS       NP_001309086             682 aa            linear   PRI 26-MAR-2023
DEFINITION  transcription factor 12 isoform b [Homo sapiens].
ACCESSION   NP_001309086
VERSION     NP_001309086.1
DBSOURCE    REFSEQ: accession NM_001322157.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 682)
  AUTHORS   Liu L, Zhou X, Cheng S, Ge Y, Chen B, Shi J, Li H, Li S, Li Y, Yuan
            J, Wu A, Liu X, Huang S, Xu Z and Dong J.
  TITLE     RNA-binding protein DHX9 promotes glioma growth and
            tumor-associated macrophages infiltration via TCF12
  JOURNAL   CNS Neurosci Ther 29 (4), 988-999 (2023)
   PUBMED   36377508
  REMARK    GeneRIF: RNA-binding protein DHX9 promotes glioma growth and
            tumor-associated macrophages infiltration via TCF12.
REFERENCE   2  (residues 1 to 682)
  AUTHORS   Li XP, Jia YL, Duan YQ, Zhao Y, Yin XL, Zhen SM, Zhang Y and Liu
            LH.
  TITLE     Circular RNA hsa_circ_0002938 (circCRIM1) promotes the progression
            of esophageal squamous cell carcinoma by upregulating transcription
            factor 12
  JOURNAL   Neoplasma 70 (1), 145-157 (2023)
   PUBMED   36916930
  REMARK    GeneRIF: Circular RNA hsa_circ_0002938 (circCRIM1) promotes the
            progression of esophageal squamous cell carcinoma by upregulating
            transcription factor 12.
REFERENCE   3  (residues 1 to 682)
  AUTHORS   Lacroix G, Karnoub MA, Vinchon M, Wolber A, Martinot V and
            Guerreschi P.
  TITLE     Auricles Anomalies in Patients With a TCF12 Gene Mutation
  JOURNAL   J Craniofac Surg 34 (1), 302-305 (2023)
   PUBMED   35994750
  REMARK    GeneRIF: Auricles Anomalies in Patients With a TCF12 Gene Mutation.
REFERENCE   4  (residues 1 to 682)
  AUTHORS   Choi TM, Lijten OW, Mathijssen IMJ, Wolvius EB and Ongkosuwito EM.
  TITLE     Craniofacial morphology and growth in Muenke syndrome,
            Saethre-Chotzen syndrome, and TCF12-related craniosynostosis
  JOURNAL   Clin Oral Investig 26 (3), 2927-2936 (2022)
   PUBMED   34904178
  REMARK    GeneRIF: Craniofacial morphology and growth in Muenke syndrome,
            Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
REFERENCE   5  (residues 1 to 682)
  AUTHORS   Goos H, Kinnunen M, Salokas K, Tan Z, Liu X, Yadav L, Zhang Q, Wei
            GH and Varjosalo M.
  TITLE     Human transcription factor protein interaction networks
  JOURNAL   Nat Commun 13 (1), 766 (2022)
   PUBMED   35140242
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 682)
  AUTHORS   Zhang Y, Doyle K and Bina M.
  TITLE     Interactions of HTF4 with E-box motifs in the long terminal repeat
            of human immunodeficiency virus type 1
  JOURNAL   J Virol 66 (9), 5631-5634 (1992)
   PUBMED   1501295
REFERENCE   7  (residues 1 to 682)
  AUTHORS   Hu JS, Olson EN and Kingston RE.
  TITLE     HEB, a helix-loop-helix protein related to E2A and ITF2 that can
            modulate the DNA-binding ability of myogenic regulatory factors
  JOURNAL   Mol Cell Biol 12 (3), 1031-1042 (1992)
   PUBMED   1312219
REFERENCE   8  (residues 1 to 682)
  AUTHORS   Zhang Y and Bina M.
  TITLE     The nucleotide sequence of the human transcription factor HTF4a
            cDNA
  JOURNAL   DNA Seq 2 (6), 397-403 (1992)
   PUBMED   1446075
REFERENCE   9  (residues 1 to 682)
  AUTHORS   Sommer L, Hagenbuchle O, Wellauer PK and Strubin M.
  TITLE     Nuclear targeting of the transcription factor PTF1 is mediated by a
            protein subunit that does not bind to the PTF1 cognate sequence
  JOURNAL   Cell 67 (5), 987-994 (1991)
   PUBMED   1720355
REFERENCE   10 (residues 1 to 682)
  AUTHORS   Zhang Y, Babin J, Feldhaus AL, Singh H, Sharp PA and Bina M.
  TITLE     HTF4: a new human helix-loop-helix protein
  JOURNAL   Nucleic Acids Res 19 (16), 4555 (1991)
   PUBMED   1886779
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010999.6, AC090511.3,
            AC090532.1 and AC016525.11.
            
            Summary: The protein encoded by this gene is a member of the basic
            helix-loop-helix (bHLH) E-protein family that recognizes the
            consensus binding site (E-box) CANNTG. This encoded protein is
            expressed in many tissues, among them skeletal muscle, thymus, B-
            and T-cells, and may participate in regulating lineage-specific
            gene expression through the formation of heterodimers with other
            bHLH E-proteins. Several alternatively spliced transcript variants
            of this gene have been described, but the full-length nature of
            some of these variants has not been determined. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.2375436.1,
                                           SRR14038192.2440949.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..682
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     Protein         1..682
                     /product="transcription factor 12 isoform b"
                     /note="helix-loop-helix transcription factor 4;
                     E-box-binding protein; DNA-binding protein HTF4;
                     transcription factor HTF-4; class B basic helix-loop-helix
                     protein 20"
                     /calculated_mol_wt=72834
     Region          19..27
                     /region_name="9aaTAD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99081.1)"
     Region          25..122
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99081.1)"
     Site            47
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99081.1)"
     Site            67
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99081.1)"
     Site            79
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99081.1)"
     Site            98
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99081.1)"
     Site            116
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99081.1)"
     Region          119..140
                     /region_name="Leucine-zipper"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99081.1)"
     Region          140..219
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99081.1)"
     Region          182..196
                     /region_name="Interaction with RUNX1T1.
                     /evidence=ECO:0000269|PubMed:23812588"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99081.1)"
     Region          281..313
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99081.1)"
     Site            313
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99081.1)"
     Site            333
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99081.1)"
     Region          349..395
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99081.1)"
     Region          462..580
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99081.1)"
     Site            540
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99081.1)"
     Site            557
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q99081.1)"
     Site            558
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99081.1)"
     Site            559
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99081.1)"
     Region          571..655
                     /region_name="bHLH_E-protein_TCF4_E2-2"
                     /note="basic helix-loop-helix (bHLH) domain found in
                     transcription factor 4 (TCF-4) and similar proteins;
                     cd18945"
                     /db_xref="CDD:381515"
     Site            order(579,583,585..587,589,594,615..616)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381515"
     Site            order(592..593,596..597,599..600,603,607,617,620,624,627,
                     630..635)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381515"
     Region          632..655
                     /region_name="Class A specific domain"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99081.1)"
     Region          651..682
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99081.1)"
     CDS             1..682
                     /gene="TCF12"
                     /gene_synonym="bHLHb20; CRS3; HEB; HH26; HsT17266; HTF4;
                     p64; TCF-12"
                     /coded_by="NM_001322157.3:286..2334"
                     /note="isoform b is encoded by transcript variant 12"
                     /db_xref="CCDS:CCDS10159.1"
                     /db_xref="GeneID:6938"
                     /db_xref="HGNC:HGNC:11623"
                     /db_xref="MIM:600480"
ORIGIN      
        1 mnpqqqrmaa igtdkelsdl ldfsamfspp vnsgktrptt lgssqfsgsg iderggttsw
       61 gtsgqpspsy dssrgftdsp hysdhlndsr lgaheglspt pfmnsnlmgk tsergsfsly
      121 srdtglpgcq ssllrqdlgl gspaqlsssg kpgtayysfs atssrrrplh dsaaldplqa
      181 kkvrkvppgl pssvyapspn sddfnresps ypspkpptsm fastffmqdg thnssdlwss
      241 sngmsqpgfg gilgtstshm sqsssygnlh shdrlsypph svsptdints lppmssfhrg
      301 stssspyvaa shtppingsd silgtrgnaa gssqtgdalg kalasiyspd htsssfpsnp
      361 stpvgspspl tgtsqwprpg gqapsspsye nslhslqsrm edrldrldda ihvlrnhavg
      421 pstslpaghs dihsllgpsh napigslnsn yggsslvass rsasmvgthr edsvslngnh
      481 svlsstvtts stdlnhktqe nyrgglqsqs gtvvtteikt enkekdenlh eppssddmks
      541 ddessqkdik vssrgrtsst nededlnpeq kierekerrm annarerlrv rdineafkel
      601 grmcqlhlks ekpqtkllil hqavavilsl eqqvrernln pkaaclkrre eekvsavsae
      661 ppttlpgthp glsettnpmg hm
//
LOCUS       NP_001035869             726 aa            linear   PRI 05-APR-2023
DEFINITION  ankyrin repeat and zinc finger domain-containing protein 1 isoform
            1 [Homo sapiens].
ACCESSION   NP_001035869
VERSION     NP_001035869.1
DBSOURCE    REFSEQ: accession NM_001042410.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 726)
  AUTHORS   Yip MCJ, Savickas S, Gygi SP and Shao S.
  TITLE     ELAC1 Repairs tRNAs Cleaved during Ribosome-Associated Quality
            Control
  JOURNAL   Cell Rep 30 (7), 2106-2114 (2020)
   PUBMED   32075755
REFERENCE   2  (residues 1 to 726)
  AUTHORS   Zhou X, Shang YN, Lu R, Fan CW and Mo XM.
  TITLE     High ANKZF1 expression is associated with poor overall survival and
            recurrence-free survival in colon cancer
  JOURNAL   Future Oncol 15 (18), 2093-2106 (2019)
   PUBMED   31257922
  REMARK    GeneRIF: High ANKZF1 is an independent factor of poor survival
            (overall survival and recurrence-free survival) in colon cancer by
            taking part in angiogenesis and some cancer signaling pathways.
REFERENCE   3  (residues 1 to 726)
  AUTHORS   Yip MCJ, Keszei AFA, Feng Q, Chu V, McKenna MJ and Shao S.
  TITLE     Mechanism for recycling tRNAs on stalled ribosomes
  JOURNAL   Nat Struct Mol Biol 26 (5), 343-349 (2019)
   PUBMED   31011209
REFERENCE   4  (residues 1 to 726)
  AUTHORS   Kuroha K, Zinoviev A, Hellen CUT and Pestova TV.
  TITLE     Release of Ubiquitinated and Non-ubiquitinated Nascent Chains from
            Stalled Mammalian Ribosomal Complexes by ANKZF1 and Ptrh1
  JOURNAL   Mol Cell 72 (2), 286-302 (2018)
   PUBMED   30244831
  REMARK    GeneRIF: Rendering 60S RNCs resistant to Ptrh1 but susceptible to
            ANKZF1.
REFERENCE   5  (residues 1 to 726)
  AUTHORS   Verma R, Reichermeier KM, Burroughs AM, Oania RS, Reitsma JM,
            Aravind L and Deshaies RJ.
  TITLE     Vms1 and ANKZF1 peptidyl-tRNA hydrolases release nascent chains
            from stalled ribosomes
  JOURNAL   Nature 557 (7705), 446-451 (2018)
   PUBMED   29632312
  REMARK    GeneRIF: ANKZF1 peptidyl-tRNA hydrolases release nascent chains
            from stalled ribosomes
REFERENCE   6  (residues 1 to 726)
  AUTHORS   Jager S, Cimermancic P, Gulbahce N, Johnson JR, McGovern KE, Clarke
            SC, Shales M, Mercenne G, Pache L, Li K, Hernandez H, Jang GM, Roth
            SL, Akiva E, Marlett J, Stephens M, D'Orso I, Fernandes J, Fahey M,
            Mahon C, O'Donoghue AJ, Todorovic A, Morris JH, Maltby DA, Alber T,
            Cagney G, Bushman FD, Young JA, Chanda SK, Sundquist WI, Kortemme
            T, Hernandez RD, Craik CS, Burlingame A, Sali A, Frankel AD and
            Krogan NJ.
  TITLE     Global landscape of HIV-human protein complexes
  JOURNAL   Nature 481 (7381), 365-370 (2011)
   PUBMED   22190034
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 726)
  AUTHORS   Stapf C, Cartwright E, Bycroft M, Hofmann K and Buchberger A.
  TITLE     The general definition of the p97/valosin-containing protein
            (VCP)-interacting motif (VIM) delineates a new family of p97
            cofactors
  JOURNAL   J Biol Chem 286 (44), 38670-38678 (2011)
   PUBMED   21896481
REFERENCE   8  (residues 1 to 726)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   9  (residues 1 to 726)
  AUTHORS   Beausoleil SA, Villen J, Gerber SA, Rush J and Gygi SP.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
REFERENCE   10 (residues 1 to 726)
  AUTHORS   Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H,
            Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff
            S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksoz E, Droege A,
            Krobitsch S, Korn B, Birchmeier W, Lehrach H and Wanker EE.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC068946.4, AK023206.1, DA899467.1 and BC028334.1.
            
            Transcript Variant: This variant (2) has an alternate 5' UTR exon,
            compared to variant 1. Variants 1 and 2 encode the same isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK023206.1, SRR14038193.2736165.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..726
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     Protein         1..726
                     /product="ankyrin repeat and zinc finger domain-containing
                     protein 1 isoform 1"
                     /note="ankyrin repeat and zinc finger domain-containing
                     protein 1; zinc finger protein 744; ankyrin repeat and
                     zinc finger domain containing 1"
                     /calculated_mol_wt=80796
     Region          40..61
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H8Y5.1)"
     Region          69..103
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     Region          74..96
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Region          120..141
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H8Y5.1)"
     Region          207..351
                     /region_name="bVLRF1"
                     /note="bacteroidetes VLRF1 release factor; pfam18826"
                     /db_xref="CDD:436767"
     Site            258
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9H8Y5.1)"
     Site            361
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H8Y5.1)"
     Region          387..409
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H8Y5.1)"
     Site            398
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9H8Y5.1)"
     Region          436..474
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H8Y5.1)"
     Region          493..526
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H8Y5.1)"
     Region          <495..565
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          495..532
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            533
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H8Y5.1)"
     Region          534..565
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          534..563
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H8Y5.1)"
     Region          535..>607
                     /region_name="PTZ00322"
                     /note="6-phosphofructo-2-kinase/fructose-2,
                     6-biphosphatase; Provisional"
                     /db_xref="CDD:140343"
     Region          588..656
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H8Y5.1)"
     Site            607
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H8Y5.1)"
     Region          654..666
                     /region_name="VCP/p97-interacting motif (VIM).
                     /evidence=ECO:0000269|PubMed:21896481"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H8Y5.1)"
     Site            675
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H8Y5.1)"
     Site            680
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H8Y5.1)"
     Region          683..724
                     /region_name="VATC"
                     /note="Vms1-associating treble clef domain; pfam18716"
                     /db_xref="CDD:436689"
     CDS             1..726
                     /gene="ANKZF1"
                     /gene_synonym="Vms1; ZNF744"
                     /coded_by="NM_001042410.2:184..2364"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS42821.1"
                     /db_xref="GeneID:55139"
                     /db_xref="HGNC:HGNC:25527"
                     /db_xref="MIM:617541"
ORIGIN      
        1 mspapdaapa pasislfdls adapvfqgls lvshapgeal araprtscsg sgeresperk
       61 llqgpmdise klfcstcdqt fqnhqeqreh ykldwhrfnl kqrlkdkpll saldfekqss
      121 tgdlssisgs edsdsaseed lqtldrerat feklsrppgf yphrvlfqna qgqflyayrc
      181 vlgphqdppe eaelllqnlq srgprdcvvl maaaghfaga ifqgrevvth ktfhrytvra
      241 krgtaqglrd arggpshsag anlrryneat lykdvrdlla gpswakalee agtillrapr
      301 sgrslffggk gaplqrgdpr lwdiplatrr ptfqelqrvl hklttlhvye edpreavrlh
      361 spqthwktvr eerkkpteee irkicrdeke algqneespk qgsgsegedg fqvelelvel
      421 tvgtldlces evlpkrrrrk rnkkeksrdq eagahrtllq qtqeeepstq ssqavaaplg
      481 plldeakapg qpelwnalla acragdvgvl klqlapspad prvlsllsap lgsggftllh
      541 aaaaagrgsv vrllleagad ptvqdsrarp pytvaadkst rnefrrfmek npdaydynka
      601 qvpgpltpem earqatrkre qkaarrqree qqqrqqeqee rereeqrrfa alsdrekral
      661 aaerrlaaql gaptspipds aivntrrcws cgaslqgltp fhyldfsfcs trclqdhrrq
      721 agrpss
//
LOCUS       NP_001008784             271 aa            linear   PRI 30-SEP-2022
DEFINITION  cell surface glycoprotein CD200 receptor 2 isoform 1 precursor
            [Homo sapiens].
ACCESSION   NP_001008784 XP_496655
VERSION     NP_001008784.2
DBSOURCE    REFSEQ: accession NM_001008784.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 271)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 271)
  AUTHORS   Tao S, Wang Z, Feng J, Hsu FC, Jin G, Kim ST, Zhang Z, Gronberg H,
            Zheng LS, Isaacs WB, Xu J and Sun J.
  TITLE     A genome-wide search for loci interacting with known prostate
            cancer risk-associated genetic variants
  JOURNAL   Carcinogenesis 33 (3), 598-603 (2012)
   PUBMED   22219177
REFERENCE   3  (residues 1 to 271)
  AUTHORS   Minas K and Liversidge J.
  TITLE     Is the CD200/CD200 receptor interaction more than just a myeloid
            cell inhibitory signal?
  JOURNAL   Crit Rev Immunol 26 (3), 213-230 (2006)
   PUBMED   16928187
  REMARK    Review article
REFERENCE   4  (residues 1 to 271)
  AUTHORS   Voehringer D, Rosen DB, Lanier LL and Locksley RM.
  TITLE     CD200 receptor family members represent novel DAP12-associated
            activating receptors on basophils and mast cells
  JOURNAL   J Biol Chem 279 (52), 54117-54123 (2004)
   PUBMED   15471863
REFERENCE   5  (residues 1 to 271)
  AUTHORS   Wright GJ, Cherwinski H, Foster-Cuevas M, Brooke G, Puklavec MJ,
            Bigler M, Song Y, Jenmalm M, Gorman D, McClanahan T, Liu MR, Brown
            MH, Sedgwick JD, Phillips JH and Barclay AN.
  TITLE     Characterization of the CD200 receptor family in mice and humans
            and their interactions with CD200
  JOURNAL   J Immunol 171 (6), 3034-3046 (2003)
   PUBMED   12960329
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC074044.8 and AC092892.5.
            On Jul 6, 2007 this sequence version replaced NP_001008784.1.
            
            Transcript Variant: This variant (1, coding) represents the allele
            encoded by the GRCh38 reference genome and encodes isoform (1).
            
            ##Evidence-Data-START##
            CDS exon combination :: AY552790.1 [ECO:0000331]
            RNAseq introns       :: partial sample support SAMEA1968968,
                                    SAMEA2148874 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            polymorphic pseudogene :: based on alignments, homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..271
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.2"
     Protein         1..271
                     /product="cell surface glycoprotein CD200 receptor 2
                     isoform 1 precursor"
                     /note="CD200 receptor 2; cell surface glycoprotein CD200
                     receptor 2; CD200 cell surface glycoprotein receptor 2;
                     CD200 receptor-like 2; cell surface glycoprotein OX2
                     receptor 2; CD200 cell surface glycoprotein receptor-like
                     2; CD200 cell surface glycoprotein receptor-like a; cell
                     surface glycoprotein CD200 receptor 1-like"
                     /calculated_mol_wt=28049
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1889
     Region          37..143
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          50..54
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          64..68
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          108..112
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          122..127
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          135..138
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          147..224
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          156..160
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          170..174
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          206..211
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          219..222
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..271
                     /gene="CD200R1L"
                     /gene_synonym="CD200R2; CD200RLa"
                     /coded_by="NM_001008784.4:467..1282"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1, coding"
                     /db_xref="CCDS:CCDS43131.1"
                     /db_xref="GeneID:344807"
                     /db_xref="HGNC:HGNC:24665"
ORIGIN      
        1 msaprllisi iimvsassss cmggkqmtqn ystifaegni sqpvlmdina vlccppialr
       61 nliiitweii lrgqpsctka ykketnetke tnctveritw vsrpdqnsdl qirpvdtthd
      121 gyyrgivvtp dgnfhrgyhl qvlvtpevnl fqsrnitavc kavtgkpaaq iswipegsil
      181 atkqeywgng tvtvkstcpw eghkstvtch vshltgnksl svklnsglrt sgspalslli
      241 ilyvklslfv vilvttgfvf fqrinhvrkv l
//
LOCUS       NP_001103831             210 aa            linear   PRI 17-DEC-2022
DEFINITION  inactive ribonuclease-like protein 9 isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_001103831
VERSION     NP_001103831.1
DBSOURCE    REFSEQ: accession NM_001110361.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 210)
  AUTHORS   Kennedy RB, Ovsyannikova IG, Haralambieva IH, Lambert ND, Pankratz
            VS and Poland GA.
  TITLE     Genome-wide SNP associations with rubella-specific cytokine
            responses in measles-mumps-rubella vaccine recipients
  JOURNAL   Immunogenetics 66 (7-8), 493-499 (2014)
   PUBMED   24811271
REFERENCE   2  (residues 1 to 210)
  AUTHORS   Premzl M.
  TITLE     Comparative genomic analysis of eutherian ribonuclease A genes
  JOURNAL   Mol Genet Genomics 289 (2), 161-167 (2014)
   PUBMED   24337645
REFERENCE   3  (residues 1 to 210)
  AUTHORS   Tao S, Wang Z, Feng J, Hsu FC, Jin G, Kim ST, Zhang Z, Gronberg H,
            Zheng LS, Isaacs WB, Xu J and Sun J.
  TITLE     A genome-wide search for loci interacting with known prostate
            cancer risk-associated genetic variants
  JOURNAL   Carcinogenesis 33 (3), 598-603 (2012)
   PUBMED   22219177
REFERENCE   4  (residues 1 to 210)
  AUTHORS   Liu J, Li J, Wang H, Zhang C, Li N, Lin Y, Liu J and Wang W.
  TITLE     Cloning, expression and location of RNase9 in human epididymis
  JOURNAL   BMC Res Notes 1, 111 (2008)
   PUBMED   18992174
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 210)
  AUTHORS   Cho S, Beintema JJ and Zhang J.
  TITLE     The ribonuclease A superfamily of mammals and birds: identifying
            new members and tracing evolutionary histories
  JOURNAL   Genomics 85 (2), 208-220 (2005)
   PUBMED   15676279
REFERENCE   6  (residues 1 to 210)
  AUTHORS   Devor EJ, Moffat-Wilson KA and Galbraith JJ.
  TITLE     LOC 390443 (RNase 9) on chromosome 14q11.2 is related to the RNase
            A superfamily and contains a unique amino-terminal preproteinlike
            sequence
  JOURNAL   Hum Biol 76 (6), 921-935 (2004)
   PUBMED   15974301
  REMARK    GeneRIF: may be involved in host defense
REFERENCE   7  (residues 1 to 210)
  AUTHORS   Penttinen J, Pujianto DA, Sipila P, Huhtaniemi I and Poutanen M.
  TITLE     Discovery in silico and characterization in vitro of novel genes
            exclusively expressed in the mouse epididymis
  JOURNAL   Mol Endocrinol 17 (11), 2138-2151 (2003)
   PUBMED   12920233
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            EF061301.1.
            
            Transcript Variant: This variant (2, also known as alpha123) uses
            an alternate splice site in the 5' coding region, compared to
            variant 1. Variants 1, 2, 3, and 4 encode the same isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: EF061301.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..210
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     Protein         1..210
                     /product="inactive ribonuclease-like protein 9 isoform 1
                     precursor"
                     /note="ribonuclear enzyme; inactive ribonuclease-like
                     protein 9; ribonuclease A K1; ribonuclease, RNase A
                     family, 9 (non-active)"
                     /calculated_mol_wt=21266
     sig_peptide     1..31
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3533
     Region          66..179
                     /region_name="RNase_A"
                     /note="RNase A family, or Pancreatic RNases family;
                     includes vertebrate RNase homologs to the bovine
                     pancreatic ribonuclease A (RNase A). Many of these enzymes
                     have special biological activities; for example, some
                     stimulate the development of vascular...; cd00163"
                     /db_xref="CDD:119386"
     Site            order(105,137,148,163,165,167..168,170)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:119386"
     CDS             1..210
                     /gene="RNASE9"
                     /gene_synonym="h461; HEL128; RAK1"
                     /coded_by="NM_001110361.1:181..813"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS55904.1"
                     /db_xref="GeneID:390443"
                     /db_xref="HGNC:HGNC:20673"
                     /db_xref="MIM:614014"
ORIGIN      
        1 msagkmmrtl itthplplll lpqqllqlvq fqevdtdfdf peedkkeefe eclekffstg
       61 parpptkekv krrvliepgm plnhieycnh eimgknvyyk hrwvaehyfl lmqydelqki
      121 cynrfvpckn girkcnrskg lvegvycnlt eafeipacky eslyrkgyvl itcswqnemq
      181 kriphtindl veppehrsfl sedgvfvisp
//
LOCUS       NP_001139634             450 aa            linear   PRI 21-DEC-2022
DEFINITION  tripartite motif-containing protein 77 isoform 1 [Homo sapiens].
ACCESSION   NP_001139634 XP_001717796 XP_941394
VERSION     NP_001139634.1
DBSOURCE    REFSEQ: accession NM_001146162.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 450)
  AUTHORS   Han K, Lou DI and Sawyer SL.
  TITLE     Identification of a genomic reservoir for new TRIM genes in primate
            genomes
  JOURNAL   PLoS Genet 7 (12), e1002388 (2011)
   PUBMED   22144910
REFERENCE   2  (residues 1 to 450)
  AUTHORS   Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd
            C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E,
            Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K,
            Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC,
            Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES
            and Sakaki Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003122.2, JF968446.1 and JF968445.1.
            On or before Apr 1, 2009 this sequence version replaced
            XP_941394.1, XP_001717796.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA2149178 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000398290.7/ ENSP00000474003.1
            RefSeq Select criteria    :: based on expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..450
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.3"
     Protein         1..450
                     /product="tripartite motif-containing protein 77 isoform
                     1"
                     /note="putative tripartite motif-containing protein 77;
                     putative tripartite motif-containing protein 64D;
                     TRIM77-isoform; tripartite motif containing 77,
                     pseudogene"
                     /calculated_mol_wt=52319
     Region          10..63
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Site            order(15,18,30,32,35,38,52,55)
                     /site_type="other"
                     /note="cross-brace motif"
                     /db_xref="CDD:438111"
     Region          87..139
                     /region_name="Bbox2_TRIM43-like"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing proteins TRIM43, TRIM48, TRIM49, TRIM51,
                     TRIM64, TRIM77 and similar proteins; cd19783"
                     /db_xref="CDD:380841"
     Region          285..449
                     /region_name="SPRY"
                     /note="SPRY domain; cl02614"
                     /db_xref="CDD:445854"
     CDS             1..450
                     /gene="TRIM77"
                     /gene_synonym="TRIM77P"
                     /coded_by="NM_001146162.1:1..1353"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS60929.1"
                     /db_xref="GeneID:390231"
                     /db_xref="HGNC:HGNC:34228"
ORIGIN      
        1 masaitqcst seltcsictd yltdpvticc ghrfcspclc llwedtltpn ccpvcreisq
       61 qmyfkriifa ekqviptres vpcqlsssam licrrhqeik nlicetdrsl lcflcsqspr
      121 hathkhymtr eadeyyrkkl liqmksiwkk kqknqrnlnr etniigtwev finlrsmmis
      181 aeypkvcqyl reeeqkhves laregriifq qlkrsqtrma kmgillremy eklkemscka
      241 dvnlpqdlgd vmkrneflrl ampqpvnpql sawtitgvse rlnffrvyit ldrkicsnhk
      301 llfedlrhlq cslddtdmsc nptstqytss wgaqilssgk hywevdvkds cnwviglcre
      361 awtkrndmrl dsegiflllc lkvddhfslf stspllphyi prpqgwlgvf ldyecgivsf
      421 vnvaqsslic sflsrifyfp lrpfichgsk
//
LOCUS       NP_001035845             661 aa            linear   PRI 22-DEC-2022
DEFINITION  prolyl endopeptidase-like isoform 3 [Homo sapiens].
ACCESSION   NP_001035845
VERSION     NP_001035845.1
DBSOURCE    REFSEQ: accession NM_001042386.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 661)
  AUTHORS   Shchagina O, Bessonova L, Bychkov I, Beskorovainaya T and Poliakov
            A.
  TITLE     A Family Case of Congenital Myasthenic Syndrome-22 Induced by
            Different Combinations of Molecular Causes in Siblings
  JOURNAL   Genes (Basel) 11 (7), 821 (2020)
   PUBMED   32707643
  REMARK    GeneRIF: A Family Case of Congenital Myasthenic Syndrome-22 Induced
            by Different Combinations of Molecular Causes in Siblings.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 661)
  AUTHORS   Silva S, Miyake N, Tapia C and Matsumoto N.
  TITLE     The second point mutation in PREPL: a case report and literature
            review
  JOURNAL   J Hum Genet 63 (5), 677-681 (2018)
   PUBMED   29483676
  REMARK    GeneRIF: we report the first homozygous PREPL point mutation in a
            girl with typical PREPL deficiency. This syndrome should be
            considered in the differential diagnosis of hypotonic neonates
            exhibiting myasthenic symptoms, hyperphagia, and various degrees of
            ID.
            Review article
REFERENCE   3  (residues 1 to 661)
  AUTHORS   Regal L, Martensson E, Maystadt I, Voermans N, Lederer D, Burlina
            A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T,
            Schouten M, Meulemans S, Jonson T, Francois I, Gil Ortega D,
            Kamsteeg EJ and Creemers JWM.
  TITLE     PREPL deficiency: delineation of the phenotype and development of a
            functional blood assay
  JOURNAL   Genet Med 20 (1), 109-118 (2018)
   PUBMED   28726805
REFERENCE   4  (residues 1 to 661)
  AUTHORS   Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET,
            Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK,
            Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS,
            Rensvold JW, Taylor RW, Prokisch H, Kim JP, Coon JJ and Pagliarini
            DJ.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   5  (residues 1 to 661)
  AUTHORS   Regal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW
            and Engel AG.
  TITLE     PREPL deficiency with or without cystinuria causes a novel
            myasthenic syndrome
  JOURNAL   Neurology 82 (14), 1254-1260 (2014)
   PUBMED   24610330
REFERENCE   6  (residues 1 to 661)
  AUTHORS   Parvari R, Gonen Y, Alshafee I, Buriakovsky S, Regev K and
            Hershkovitz E.
  TITLE     The 2p21 deletion syndrome: characterization of the transcription
            content
  JOURNAL   Genomics 86 (2), 195-211 (2005)
   PUBMED   15913950
REFERENCE   7  (residues 1 to 661)
  AUTHORS   Kim DK, Kanai Y, Choi HW, Tangtrongsup S, Chairoungdua A, Babu E,
            Tachampa K, Anzai N, Iribe Y and Endou H.
  TITLE     Characterization of the system L amino acid transporter in T24
            human bladder carcinoma cells
  JOURNAL   Biochim Biophys Acta 1565 (1), 112-121 (2002)
   PUBMED   12225859
  REMARK    GeneRIF: description of L-leucine transport into bladder carcinoma
            cells
REFERENCE   8  (residues 1 to 661)
  AUTHORS   Parvari R, Brodyansky I, Elpeleg O, Moses S, Landau D and
            Hershkovitz E.
  TITLE     A recessive contiguous gene deletion of chromosome 2p16 associated
            with cystinuria and a mitochondrial disease
  JOURNAL   Am J Hum Genet 69 (4), 869-875 (2001)
   PUBMED   11524703
REFERENCE   9  (residues 1 to 661)
  AUTHORS   Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and
            Morton CC.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
REFERENCE   10 (residues 1 to 661)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ023507.1, BC151236.1,
            AC013717.8 and CA951923.1.
            
            Summary: The protein encoded by this gene belongs to the prolyl
            oligopeptidase subfamily of serine peptidases. Mutations in this
            gene have been associated with hypotonia-cystinuria syndrome, also
            known as the 2p21 deletion syndrome. Several alternatively spliced
            transcript variants encoding either the same or different isoforms
            have been described for this gene.[provided by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (5, also known as variant D) is
            missing an in-frame coding exon compared to variant 1, resulting in
            a shorter isoform (3) lacking an internal protein segment compared
            to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ023507.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..661
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     Protein         1..661
                     /product="prolyl endopeptidase-like isoform 3"
                     /EC_number="3.4.21.-"
                     /note="putative prolyl oligopeptidase"
                     /calculated_mol_wt=76221
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q4J6C6.1)"
     Region          113..583
                     /region_name="PtrB"
                     /note="Protease II [Amino acid transport and metabolism];
                     COG1770"
                     /db_xref="CDD:224684"
     CDS             1..661
                     /gene="PREPL"
                     /gene_synonym="CMS22"
                     /coded_by="NM_001042386.2:35..2020"
                     /note="isoform 3 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS42676.1"
                     /db_xref="GeneID:9581"
                     /db_xref="HGNC:HGNC:30228"
                     /db_xref="MIM:609557"
ORIGIN      
        1 mqqktklflq alkysiphlg kcmqkqhlnh ynfadhcynr iklkkyhltk clqnkpkise
       61 larnipsrsf sckdlqpvkq enekplpenm dafekvrtkl etqpqeeyei invevkhggf
      121 vyyqegcclv rskdeeadnd nyevlfnlee lkldqpfidc irvapdekyv aakirtedse
      181 astcviikls dqpvmeasfp nvssfewvkd eededvlfyt fqrnlrchdv yratfgdnkr
      241 nerfytekdp syfvflyltk dsrfltinim nkttsevwli dglspwdppv liqkrihgvl
      301 yyvehrddel yiltnvgept efklmrtaad tpaimnwdlf ftmkrntkvi dldmfkdhcv
      361 lflkhsnlly vnvigladds vrslkdgklv pmtvfhktds edlqkkpllv hvygaygmdl
      421 kmnfrperrv lvddgwilay chvrgggelg lqwhadgrlt kklngladle aciktlhgqg
      481 fsqpslttlt afsaggvlag alcnsnpelv ravtleapfl dvlntmmdtt lpltleelee
      541 wgnpssdekh knyikrycpy qnikpqhyps ihitayende rvplkgivsy teklkeaiae
      601 hakdtgegyq tpniildiqp ggnhviedsh kkitaqikfl yeelgldsts vfedlkkylk
      661 f
//
LOCUS       NP_001292553             197 aa            linear   PRI 22-DEC-2022
DEFINITION  calmodulin-2 isoform 1 [Homo sapiens].
ACCESSION   NP_001292553
VERSION     NP_001292553.1
DBSOURCE    REFSEQ: accession NM_001305624.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 197)
  AUTHORS   Alphonse N, Wanford JJ, Voak AA, Gay J, Venkhaya S, Burroughs O,
            Mathew S, Lee T, Evans SL, Zhao W, Frowde K, Alrehaili A, Dickenson
            RE, Munk M, Panina S, Mahmood IF, Llorian M, Stanifer ML, Boulant
            S, Berchtold MW, Bergeron JRC, Wack A, Lesser CF and Odendall C.
  TITLE     A family of conserved bacterial virulence factors dampens
            interferon responses by blocking calcium signaling
  JOURNAL   Cell 185 (13), 2354-2369 (2022)
   PUBMED   35568036
REFERENCE   2  (residues 1 to 197)
  AUTHORS   Ma B, Zhao M and Guo Z.
  TITLE     Circular RNA circ_0010729 Knockdown Attenuates Oxygen-Glucose
            Deprivation-Induced Human Cardiac Myocytes Injury by
            miR-338-3p/CALM2 Axis
  JOURNAL   J Cardiovasc Pharmacol 77 (5), 594-602 (2021)
   PUBMED   33951696
  REMARK    GeneRIF: Circular RNA circ_0010729 Knockdown Attenuates
            Oxygen-Glucose Deprivation-Induced Human Cardiac Myocytes Injury by
            miR-338-3p/CALM2 Axis.
REFERENCE   3  (residues 1 to 197)
  AUTHORS   Makita,N., Yagihara,N., Crotti,L., Johnson,C.N., Beckmann,B.M.,
            Roh,M.S., Shigemizu,D., Lichtner,P., Ishikawa,T., Aiba,T.,
            Homfray,T., Behr,E.R., Klug,D., Denjoy,I., Mastantuono,E.,
            Theisen,D., Tsunoda,T., Satake,W., Toda,T., Nakagawa,H., Tsuji,Y.,
            Tsuchiya,T., Yamamoto,H., Miyamoto,Y., Endo,N., Kimura,A.,
            Ozaki,K., Motomura,H., Suda,K., Tanaka,T., Schwartz,P.J.,
            Meitinger,T., Kaab,S., Guicheney,P., Shimizu,W., Bhuiyan,Z.A.,
            Watanabe,H., Chazin,W.J. and George,A.L. Jr.
  TITLE     Novel calmodulin mutations associated with congenital arrhythmia
            susceptibility
  JOURNAL   Circ Cardiovasc Genet 7 (4), 466-474 (2014)
   PUBMED   24917665
  REMARK    GeneRIF: 5 novel de novo CALM2 mutations in association with
            long-QT syndrome and exertioninduced arrhythmias.(p.N98S, p.N98I,
            p.D134H, p.D132E, p.Q136P)
REFERENCE   4  (residues 1 to 197)
  AUTHORS   Nyegaard M, Overgaard MT, Sondergaard MT, Vranas M, Behr ER,
            Hildebrandt LL, Lund J, Hedley PL, Camm AJ, Wettrell G, Fosdal I,
            Christiansen M and Borglum AD.
  TITLE     Mutations in calmodulin cause ventricular tachycardia and sudden
            cardiac death
  JOURNAL   Am J Hum Genet 91 (4), 703-712 (2012)
   PUBMED   23040497
REFERENCE   5  (residues 1 to 197)
  AUTHORS   Toutenhoofd SL, Foletti D, Wicki R, Rhyner JA, Garcia F, Tolon R
            and Strehler EE.
  TITLE     Characterization of the human CALM2 calmodulin gene and comparison
            of the transcriptional activity of CALM1, CALM2 and CALM3
  JOURNAL   Cell Calcium 23 (5), 323-338 (1998)
   PUBMED   9681195
REFERENCE   6  (residues 1 to 197)
  AUTHORS   Berchtold MW, Egli R, Rhyner JA, Hameister H and Strehler EE.
  TITLE     Localization of the human bona fide calmodulin genes CALM1, CALM2,
            and CALM3 to chromosomes 14q24-q31, 2p21.1-p21.3, and 19q13.2-q13.3
  JOURNAL   Genomics 16 (2), 461-465 (1993)
   PUBMED   8314583
REFERENCE   7  (residues 1 to 197)
  AUTHORS   Napolitano,C., Mazzanti,A., Bloise,R. and Priori,S.G.
  TITLE     Catecholaminergic Polymorphic Ventricular Tachycardia
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301466
REFERENCE   8  (residues 1 to 197)
  AUTHORS   Alders,M., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301308
REFERENCE   9  (residues 1 to 197)
  AUTHORS   Koller M, Schnyder B and Strehler EE.
  TITLE     Structural organization of the human CaMIII calmodulin gene
  JOURNAL   Biochim Biophys Acta 1087 (2), 180-189 (1990)
   PUBMED   2223880
REFERENCE   10 (residues 1 to 197)
  AUTHORS   SenGupta B, Friedberg F and Detera-Wadleigh SD.
  TITLE     Molecular analysis of human and rat calmodulin complementary DNA
            clones. Evidence for additional active genes in these species
  JOURNAL   J Biol Chem 262 (34), 16663-16670 (1987)
   PUBMED   2445749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY022313.1, BG563041.1,
            BC017385.1 and AI873701.1.
            
            Summary: This gene is a member of the calmodulin gene family. There
            are three distinct calmodulin genes dispersed throughout the genome
            that encode the identical protein, but differ at the nucleotide
            level. Calmodulin is a calcium binding protein that plays a role in
            signaling pathways, cell cycle progression and proliferation.
            Several infants with severe forms of long-QT syndrome (LQTS) who
            displayed life-threatening ventricular arrhythmias together with
            delayed neurodevelopment and epilepsy were found to have mutations
            in either this gene or another member of the calmodulin gene family
            (PMID:23388215). Mutations in this gene have also been identified
            in patients with less severe forms of LQTS (PMID:24917665), while
            mutations in another calmodulin gene family member have been
            associated with catecholaminergic polymorphic ventricular
            tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be
            the cause of a significant fraction of sudden cardiac deaths in
            young individuals. Pseudogenes of this gene are found on
            chromosomes 10, 13, and 17. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, Mar 2015].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.385094.1,
                                           ERR279833.3178.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..197
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     Protein         1..197
                     /product="calmodulin-2 isoform 1"
                     /EC_number="2.7.11.19"
                     /note="phosphorylase kinase delta; LP7057 protein;
                     prepro-calmodulin 2; calmodulin 2 (phosphorylase kinase,
                     delta); phosphorylase kinase subunit delta; Calmodulin-1;
                     Calmodulin-3; phosphorylase kinase subunit delta 2"
                     /calculated_mol_wt=22056
     Region          50..197
                     /region_name="PTZ00184"
                     /note="calmodulin; Provisional"
                     /db_xref="CDD:185504"
     CDS             1..197
                     /gene="CALM2"
                     /gene_synonym="CALM; CALML2; caM; CAM1; CAM3; CAMC; CAMII;
                     CAMIII; LQT15; PHKD; PHKD2"
                     /coded_by="NM_001305624.1:83..676"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="GeneID:805"
                     /db_xref="HGNC:HGNC:1445"
                     /db_xref="MIM:114182"
ORIGIN      
        1 mrrwgrrrri spsgeselsg cvvasrkpva laawlalyia shfaqqpcka dqlteeqiae
       61 fkeafslfdk dgdgtittke lgtvmrslgq npteaelqdm inevdadgng tidfpefltm
      121 markmkdtds eeeireafrv fdkdgngyis aaelrhvmtn lgekltdeev demireadid
      181 gdgqvnyeef vqmmtak
//
LOCUS       NP_443080                343 aa            linear   PRI 24-DEC-2022
DEFINITION  coiled-coil domain-containing protein 97 isoform 1 [Homo sapiens].
ACCESSION   NP_443080
VERSION     NP_443080.1
DBSOURCE    REFSEQ: accession NM_052848.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 343)
  AUTHORS   Guey LT, Garcia-Closas M, Murta-Nascimento C, Lloreta J, Palencia
            L, Kogevinas M, Rothman N, Vellalta G, Calle ML, Marenne G, Tardon
            A, Carrato A, Garcia-Closas R, Serra C, Silverman DT, Chanock S,
            Real FX and Malats N.
  CONSRTM   EPICURO/Spanish Bladder Cancer Study investigators
  TITLE     Genetic susceptibility to distinct bladder cancer subphenotypes
  JOURNAL   Eur Urol 57 (2), 283-292 (2010)
   PUBMED   19692168
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DR001364.1 and BC011577.1.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC011577.1, SRR1660803.252946.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000269967.4/ ENSP00000269967.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..343
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     Protein         1..343
                     /product="coiled-coil domain-containing protein 97 isoform
                     1"
                     /note="coiled-coil domain-containing protein 97"
                     /calculated_mol_wt=38816
     Region          1..37
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F63.1)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q96F63.1)"
     Site            47
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q96F63.1)"
     Region          159..321
                     /region_name="DUF2052"
                     /note="Coiled-coil domain containing protein (DUF2052);
                     pfam09747"
                     /db_xref="CDD:430798"
     Region          200..220
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F63.1)"
     Region          234..277
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F63.1)"
     Site            275
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q96F63.1)"
     Region          292..343
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F63.1)"
     Site            337
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q96F63.1)"
     CDS             1..343
                     /gene="CCDC97"
                     /coded_by="NM_052848.3:140..1171"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS12578.1"
                     /db_xref="GeneID:90324"
                     /db_xref="HGNC:HGNC:28289"
ORIGIN      
        1 meavatataa kepdkgciep gpghwgelsr tpvpskpqdk veaaeatpva ldsdtsgaen
       61 aavsamlhav aasrlpvcsq qqgepdlteh ekvailaqly hekplvfler frtglreehl
      121 acfghvrgdh radfycaeva rqgtarprtl rtrlrnrrya alreliqgge yfsdeqmrfr
      181 apllyeqyig qyltqeelsa rtpthqppkp gspgrpacpl snlllqsyee relqqrllqq
      241 qeeeeaclee eeeeedsdee dqrsgkdsea wvpdseerli lreeftsrmh qrfldgkdgd
      301 fdystvddnp dfdnldivar deeeryfdee epedapspel dgd
//
LOCUS       NP_001096036              68 aa            linear   PRI 25-DEC-2022
DEFINITION  Purkinje cell protein 4-like protein 1 [Homo sapiens].
ACCESSION   NP_001096036 XP_934560 XP_943891
VERSION     NP_001096036.1
DBSOURCE    REFSEQ: accession NM_001102566.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 68)
  AUTHORS   Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Heard-Costa N, Lohman
            K, Johnson AD, Foster MC, Greenawalt DM, Griffin P, Ding J, Newman
            AB, Tylavsky F, Miljkovic I, Kritchevsky SB, Launer L, Garcia M,
            Eiriksdottir G, Carr JJ, Gudnason V, Harris TB, Cupples LA and
            Borecki IB.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
REFERENCE   2  (residues 1 to 68)
  AUTHORS   Ma Y, Qi X, Du J, Song S, Feng D, Qi J, Zhu Z, Zhang X, Xiao H, Han
            Z and Hao X.
  TITLE     Identification of candidate genes for human pituitary development
            by EST analysis
  JOURNAL   BMC Genomics 10, 109 (2009)
   PUBMED   19284880
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 68)
  AUTHORS   Bulfone A, Caccioppoli C, Pardini C, Faedo A, Martinez S and Banfi
            S.
  TITLE     Pcp4l1, a novel gene encoding a Pcp4-like polypeptide, is expressed
            in specific domains of the developing brain
  JOURNAL   Gene Expr Patterns 4 (3), 297-301 (2004)
   PUBMED   15053978
  REMARK    GeneRIF: Cloning and expression analysis of the mouse Pcp4l1 gene,
            and sequence comparison to human PCP4L1.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC028905.2, CN283207.1 and CD237602.1.
            On or before Sep 15, 2007 this sequence version replaced
            XP_934560.1, XP_943891.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC028905.2, SRR1803613.216238.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000504449.2/ ENSP00000426296.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..68
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     Protein         1..68
                     /product="Purkinje cell protein 4-like protein 1"
                     /note="PCP4-like protein 1"
                     /calculated_mol_wt=7345
     Region          1..45
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKN8.3)"
     Site            8
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q6W8Q3; propagated from
                     UniProtKB/Swiss-Prot (A6NKN8.3)"
     CDS             1..68
                     /gene="PCP4L1"
                     /gene_synonym="IQM1"
                     /coded_by="NM_001102566.2:231..437"
                     /db_xref="CCDS:CCDS53412.1"
                     /db_xref="GeneID:654790"
                     /db_xref="HGNC:HGNC:20448"
ORIGIN      
        1 mselntktsp atnqaagqee kgkagnvkka eeeeeididl tapetekaal aiqgkfrrfq
       61 krkkdpss
//
LOCUS       NP_919261                685 aa            linear   PRI 25-DEC-2022
DEFINITION  protein SPT2 homolog [Homo sapiens].
ACCESSION   NP_919261 XP_084736
VERSION     NP_919261.2
DBSOURCE    REFSEQ: accession NM_194285.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 685)
  AUTHORS   Yin L, Tang Y, Xiao M, Li M, Huang Fu ZM and Wang YL.
  TITLE     The role of histone chaperone spty2d1 in human colorectal cancer
  JOURNAL   Mol Cell Probes 64, 101832 (2022)
   PUBMED   35691597
  REMARK    GeneRIF: The role of histone chaperone spty2d1 in human colorectal
            cancer.
REFERENCE   2  (residues 1 to 685)
  AUTHORS   Guo T, Yin RX, Bin Y, Nie RJ, Chen X and Pan SL.
  TITLE     Association of the SPT2 chromatin protein domain containing 1 gene
            rs17579600 polymorphism and serum lipid traits
  JOURNAL   Int J Clin Exp Pathol 8 (10), 12995-13010 (2015)
   PUBMED   26722495
  REMARK    GeneRIF: there may be a racial/ethnic- and/or sex-specific
            association between the SPTY2D1 rs17579600 single nucleotide
            polymorphism and serum lipid parameters in some ethnic groups.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 685)
  AUTHORS   Hasegawa Y, Taylor D, Ovchinnikov DA, Wolvetang EJ, de Torrente L
            and Mar JC.
  TITLE     Variability of Gene Expression Identifies Transcriptional
            Regulators of Early Human Embryonic Development
  JOURNAL   PLoS Genet 11 (8), e1005428 (2015)
   PUBMED   26288249
  REMARK    GeneRIF: Results from a study on gene expression variability
            markers in early-stage human embryos shows that SPTY2D1 is a
            putative expression variability marker for the 3-day, 8-cell embryo
            stage.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 685)
  AUTHORS   Chen S, Rufiange A, Huang H, Rajashankar KR, Nourani A and Patel
            DJ.
  TITLE     Structure-function studies of histone H3/H4 tetramer maintenance
            during transcription by chaperone Spt2
  JOURNAL   Genes Dev 29 (12), 1326-1340 (2015)
   PUBMED   26109053
REFERENCE   5  (residues 1 to 685)
  AUTHORS   Guo T, Yin RX, Chen X, Bin Y, Nie RJ and Li H.
  TITLE     Sex-specific association of the SPTY2D1 rs7934205 polymorphism and
            serum lipid levels
  JOURNAL   Int J Clin Exp Pathol 8 (1), 665-681 (2015)
   PUBMED   25755761
  REMARK    GeneRIF: These findings suggest that the association between the
            SPTY2D1 rs7934205 SNP and serum lipid levels might have ethnic-
            and/or sex-specificity.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 685)
  AUTHORS   Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni
            S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS,
            Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R,
            Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K,
            Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K,
            Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen
            M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson
            PKE, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte
            IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena
            R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ,
            Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik
            EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher
            D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL,
            Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney ASF, Doring
            A, Elliott P, Epstein SE, Ingi Eyjolfsson G, Gigante B, Goodarzi
            MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL,
            Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones
            MR, Kaleebu P, Kastelein JJP, Khaw KT, Kim E, Klopp N, Komulainen
            P, Kumari M, Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos
            RJF, Mach F, McArdle WL, Meisinger C, Mitchell BD, Muller G,
            Nagaraja R, Narisu N, Nieminen TVM, Nsubuga RN, Olafsson I, Ong KK,
            Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP,
            Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl
            H, Seeley J, Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret
            L, Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga
            C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH,
            Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud
            M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier
            M, Campbell H, Chakravarti A, Chambers JC, Chen YI, Collins FS,
            Cooper RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrieres
            J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V,
            Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN,
            Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K,
            Iribarren C, Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A,
            Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J,
            Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz
            W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L,
            Morris AD, Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller
            PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D,
            Salomaa V, Sanghera DK, Saramies J, Schwarz PEH, Sheu WH, Shuldiner
            AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO,
            Tremoli E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P,
            Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BHR, Ordovas
            JM, Boerwinkle E, Palmer CNA, Thorsteinsdottir U, Chasman DI,
            Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS,
            Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E and
            Abecasis GR.
  CONSRTM   Global Lipids Genetics Consortium
  TITLE     Discovery and refinement of loci associated with lipid levels
  JOURNAL   Nat Genet 45 (11), 1274-1283 (2013)
   PUBMED   24097068
REFERENCE   7  (residues 1 to 685)
  AUTHORS   Osakabe A, Tachiwana H, Takaku M, Hori T, Obuse C, Kimura H,
            Fukagawa T and Kurumizaka H.
  TITLE     Vertebrate Spt2 is a novel nucleolar histone chaperone that assists
            in ribosomal DNA transcription
  JOURNAL   J Cell Sci 126 (Pt 6), 1323-1332 (2013)
   PUBMED   23378026
  REMARK    GeneRIF: Spt2 is a novel histone chaperone with a separate
            DNA-binding domain that facilitates ribosomal DNA transcription
            through chromatin remodeling during transcription.
REFERENCE   8  (residues 1 to 685)
  AUTHORS   Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM,
            Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ,
            Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts
            SL, Bis JC, Aulchenko YS, Thorleifsson G, Feitosa MF, Chambers J,
            Orho-Melander M, Melander O, Johnson T, Li X, Guo X, Li M, Shin Cho
            Y, Jin Go M, Jin Kim Y, Lee JY, Park T, Kim K, Sim X, Twee-Hee Ong
            R, Croteau-Chonka DC, Lange LA, Smith JD, Song K, Hua Zhao J, Yuan
            X, Luan J, Lamina C, Ziegler A, Zhang W, Zee RY, Wright AF,
            Witteman JC, Wilson JF, Willemsen G, Wichmann HE, Whitfield JB,
            Waterworth DM, Wareham NJ, Waeber G, Vollenweider P, Voight BF,
            Vitart V, Uitterlinden AG, Uda M, Tuomilehto J, Thompson JR, Tanaka
            T, Surakka I, Stringham HM, Spector TD, Soranzo N, Smit JH,
            Sinisalo J, Silander K, Sijbrands EJ, Scuteri A, Scott J,
            Schlessinger D, Sanna S, Salomaa V, Saharinen J, Sabatti C,
            Ruokonen A, Rudan I, Rose LM, Roberts R, Rieder M, Psaty BM,
            Pramstaller PP, Pichler I, Perola M, Penninx BW, Pedersen NL,
            Pattaro C, Parker AN, Pare G, Oostra BA, O'Donnell CJ, Nieminen MS,
            Nickerson DA, Montgomery GW, Meitinger T, McPherson R, McCarthy MI,
            McArdle W, Masson D, Martin NG, Marroni F, Mangino M, Magnusson PK,
            Lucas G, Luben R, Loos RJ, Lokki ML, Lettre G, Langenberg C, Launer
            LJ, Lakatta EG, Laaksonen R, Kyvik KO, Kronenberg F, Konig IR, Khaw
            KT, Kaprio J, Kaplan LM, Johansson A, Jarvelin MR, Janssens AC,
            Ingelsson E, Igl W, Kees Hovingh G, Hottenga JJ, Hofman A, Hicks
            AA, Hengstenberg C, Heid IM, Hayward C, Havulinna AS, Hastie ND,
            Harris TB, Haritunians T, Hall AS, Gyllensten U, Guiducci C, Groop
            LC, Gonzalez E, Gieger C, Freimer NB, Ferrucci L, Erdmann J,
            Elliott P, Ejebe KG, Doring A, Dominiczak AF, Demissie S, Deloukas
            P, de Geus EJ, de Faire U, Crawford G, Collins FS, Chen YD,
            Caulfield MJ, Campbell H, Burtt NP, Bonnycastle LL, Boomsma DI,
            Boekholdt SM, Bergman RN, Barroso I, Bandinelli S, Ballantyne CM,
            Assimes TL, Quertermous T, Altshuler D, Seielstad M, Wong TY, Tai
            ES, Feranil AB, Kuzawa CW, Adair LS, Taylor HA Jr, Borecki IB,
            Gabriel SB, Wilson JG, Holm H, Thorsteinsdottir U, Gudnason V,
            Krauss RM, Mohlke KL, Ordovas JM, Munroe PB, Kooner JS, Tall AR,
            Hegele RA, Kastelein JJ, Schadt EE, Rotter JI, Boerwinkle E,
            Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ,
            Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn
            CM, Peltonen L, Abecasis GR, Boehnke M and Kathiresan S.
  TITLE     Biological, clinical and population relevance of 95 loci for blood
            lipids
  JOURNAL   Nature 466 (7307), 707-713 (2010)
   PUBMED   20686565
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX647798.1, BC056261.1, BX641102.1, BX648478.1, BC036844.1,
            AK096760.1, AF452716.1, BX648114.1, BX538046.1, AL834393.1 and
            AF086471.1.
            On Aug 31, 2004 this sequence version replaced NP_919261.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX647798.1, SRR1660807.173185.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146, SAMEA2467148
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000336349.6/ ENSP00000337991.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..685
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     Protein         1..685
                     /product="protein SPT2 homolog"
                     /note="SPT2 domain-containing protein 1; SPT2, Suppressor
                     of Ty, domain containing 1"
                     /calculated_mol_wt=75468
     Region          1..570
                     /region_name="Important for interaction with DNA.
                     /evidence=ECO:0000269|PubMed:23378026"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68D10.3)"
     Region          <31..>117
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          79..168
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68D10.3)"
     Region          188..615
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68D10.3)"
     Site            278
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q68D10.3)"
     Region          284..>540
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Site            471
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q68D10.3)"
     Region          571..685
                     /region_name="Important for interaction with histones.
                     /evidence=ECO:0000269|PubMed:23378026"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68D10.3)"
     Site            582
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q68D10.3)"
     Site            599
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q68D10.3)"
     Region          604..667
                     /region_name="SPT2"
                     /note="SPT2 chromatin protein; pfam08243"
                     /db_xref="CDD:429884"
     Region          644..685
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68D10.3)"
     CDS             1..685
                     /gene="SPTY2D1"
                     /gene_synonym="Spt2"
                     /coded_by="NM_194285.3:86..2143"
                     /db_xref="CCDS:CCDS31441.1"
                     /db_xref="GeneID:144108"
                     /db_xref="HGNC:HGNC:26818"
ORIGIN      
        1 mdfreilmia skgqgvnnvp kryslavgpp kkdpkvkgvq saavqaflkr keeelrrkal
       61 eekrrkeelv kkrielkhdk karamakrtk dnfhgyngip ieekskkrqa teshtsqgtd
      121 reyemeeene fleynhaese qeyeeeqepp kveskpkvpl ksapppmnft dllrlaekkq
      181 fepveikvvk kseerpmtae elrerefler khrrkkletd gklpptvskk apsqkesvgt
      241 klskgsgdrh psskgmplph aekksrpsma nekhlalsss ksmpgerika gsgnssqpsl
      301 reghdkpvfn gagkphssts spsvpktsas rtqksavehk akkslshpsh srpgpmvtph
      361 nkakspgvrq pgsssssapg qpstgvarpt vssgpvprrq ngssssgper sisgskkptn
      421 dsnpsrrtvs gtcgpgqpas ssggpgrpis gsvssarplg ssrgpgrpvs sphelrrpvs
      481 glgppgrsvs gpgrsisgsi pagrtvsnsv pgrpvsslgp gqtvsssgpt ikpkctvvse
      541 tisskniisr ssngqmngmk pplsgyraaq gpqrlpfptg ykrqreyeee dddddeydse
      601 medfiedege pqeeiskhir eifgydrkky kdesdyalry messwkeqqk eeakslrlgm
      661 qedleemrre eeemqrrrak klkrr
//
LOCUS       NP_612634                401 aa            linear   PRI 26-DEC-2022
DEFINITION  synaptotagmin-8 isoform 2 [Homo sapiens].
ACCESSION   NP_612634
VERSION     NP_612634.4
DBSOURCE    REFSEQ: accession NM_138567.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 401)
  AUTHORS   Kanda M, Shimizu D, Tanaka H, Tanaka C, Kobayashi D, Hayashi M,
            Iwata N, Niwa Y, Yamada S, Fujii T, Sugimoto H, Murotani K,
            Fujiwara M and Kodera Y.
  TITLE     Significance of SYT8 For the Detection, Prediction, and Treatment
            of Peritoneal Metastasis From Gastric Cancer
  JOURNAL   Ann Surg 267 (3), 495-503 (2018)
   PUBMED   28026832
  REMARK    GeneRIF: SYT8 represents a promising target for the detection,
            prediction, and treatment of peritoneal metastasis of GC.
REFERENCE   2  (residues 1 to 401)
  AUTHORS   Moghadam PK and Jackson MB.
  TITLE     The functional significance of synaptotagmin diversity in
            neuroendocrine secretion
  JOURNAL   Front Endocrinol (Lausanne) 4, 124 (2013)
   PUBMED   24065953
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 401)
  AUTHORS   Ostensson M, Monten C, Bacelis J, Gudjonsdottir AH, Adamovic S, Ek
            J, Ascher H, Pollak E, Arnell H, Browaldh L, Agardh D, Wahlstrom J,
            Nilsson S and Torinsson-Naluai A.
  TITLE     A possible mechanism behind autoimmune disorders discovered by
            genome-wide linkage and association analysis in celiac disease
  JOURNAL   PLoS One 8 (8), e70174 (2013)
   PUBMED   23936387
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 401)
  AUTHORS   Xu Z, Lefevre GM and Felsenfeld G.
  TITLE     Chromatin structure, epigenetic mechanisms and long-range
            interactions in the human insulin locus
  JOURNAL   Diabetes Obes Metab 14 Suppl 3 (Suppl 3), 1-11 (2012)
   PUBMED   22928559
  REMARK    Review article
REFERENCE   5  (residues 1 to 401)
  AUTHORS   Xu Z, Wei G, Chepelev I, Zhao K and Felsenfeld G.
  TITLE     Mapping of INS promoter interactions reveals its role in long-range
            regulation of SYT8 transcription
  JOURNAL   Nat Struct Mol Biol 18 (3), 372-378 (2011)
   PUBMED   21336277
  REMARK    GeneRIF: Inactivation of the insulin promoter by promoter-targeting
            siRNA reduces SYT8 gene expression.
REFERENCE   6  (residues 1 to 401)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (residues 1 to 401)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 401)
  AUTHORS   Li C, Ullrich B, Zhang JZ, Anderson RG, Brose N and Sudhof TC.
  TITLE     Ca(2+)-dependent and -independent activities of neural and
            non-neural synaptotagmins
  JOURNAL   Nature 375 (6532), 594-599 (1995)
   PUBMED   7791877
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC051649.21.
            On Jun 2, 2019 this sequence version replaced NP_612634.3.
            
            SUMMARY: This gene encodes a member of the synaptotagmin protein
            family. Synaptotagmins are membrane proteins that are important in
            neurotransmission and hormone secretion, both of which involve
            regulated exocytosis. Expression of the encoded protein in human
            pancreatic islets has been connected to activity of the promoter
            for the insulin gene, on the same chromosome several hundred
            kilobases away (PMID: 21336277 and 22928559). This association
            would link response to gluclose to insulin secretion. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site, and an alternate upstream translation start, compared
            to variant 1. The encoded protein (isoform 2) is shorter and has a
            distinct N-terminus, compared to isoform 1.
            
            CCDS Note: The coding region has been updated to represent an
            alternative 3' splice pattern, resulting in a longer and distinct
            C-terminus that is better supported by available transcript and
            homology data. The update adds two C2 domains (Ca2+-dependent
            membrane-targeting modules), which are hallmarks of synaptotagmin
            proteins.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2142586,
                              SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..401
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     Protein         1..401
                     /product="synaptotagmin-8 isoform 2"
                     /note="sytVIII; synaptotagmin VIII"
                     /calculated_mol_wt=44007
     Site            49..69
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBV8.4)"
     Region          83..112
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBV8.4)"
     Region          119..232
                     /region_name="C2"
                     /note="C2 domain; cl14603"
                     /db_xref="CDD:449331"
     Region          247..376
                     /region_name="C2"
                     /note="C2 domain; cl14603"
                     /db_xref="CDD:449331"
     CDS             1..401
                     /gene="SYT8"
                     /coded_by="NM_138567.5:146..1351"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS7726.2"
                     /db_xref="GeneID:90019"
                     /db_xref="HGNC:HGNC:19264"
                     /db_xref="MIM:607719"
ORIGIN      
        1 mlhlhgwqtm qgrkmghppv spsapapagt taipglipdl vagtpwprwa liagalaagv
       61 llvscllcaa ccccrrhrkk prdkesvglg sargtttthl vqpdvdgles spgdaqqwgc
      121 lqlslefdfg sqeirvglrq aadlrpggtv dpyarvsvst qaghrhetkv hrgtlcpvfd
      181 etccfhipqa elpgatlqvq lfnfkrfsgh eplgelrlpl gtvdlqhvle hwyllgppaa
      241 tqpeqvgelc fslryvpssg rltvvvlear glrpglaepy vkvqlmlnqr kwkkrktatk
      301 kgtaapyfne aftflvpfsq vqnvdlvlav wdrslplrte pvgkvhlgar asgqplqhwa
      361 dmlaharrpi aqrhplrpar evdrmlalqp rlrlrlplph s
//
LOCUS       NP_001317337             177 aa            linear   PRI 27-DEC-2022
DEFINITION  sideroflexin-5 isoform 10 [Homo sapiens].
ACCESSION   NP_001317337
VERSION     NP_001317337.1
DBSOURCE    REFSEQ: accession NM_001330408.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 177)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 177)
  AUTHORS   Kory N, Wyant GA, Prakash G, Uit de Bos J, Bottanelli F, Pacold ME,
            Chan SH, Lewis CA, Wang T, Keys HR, Guo YE and Sabatini DM.
  TITLE     SFXN1 is a mitochondrial serine transporter required for one-carbon
            metabolism
  JOURNAL   Science 362 (6416) (2018)
   PUBMED   30442778
REFERENCE   3  (residues 1 to 177)
  AUTHORS   Miyake S, Yamashita T, Taniguchi M, Tamatani M, Sato K and Tohyama
            M.
  TITLE     Identification and characterization of a novel mitochondrial
            tricarboxylate carrier
  JOURNAL   Biochem Biophys Res Commun 295 (2), 463-468 (2002)
   PUBMED   12150972
REFERENCE   4  (residues 1 to 177)
  AUTHORS   Lockhart PJ, Holtom B, Lincoln S, Hussey J, Zimprich A, Gasser T,
            Wszolek ZK, Hardy J and Farrer MJ.
  TITLE     The human sideroflexin 5 (SFXN5) gene: sequence, expression
            analysis and exclusion as a candidate for PARK3
  JOURNAL   Gene 285 (1-2), 229-237 (2002)
   PUBMED   12039050
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012366.10.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.107233.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..177
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.2"
     Protein         1..177
                     /product="sideroflexin-5 isoform 10"
                     /calculated_mol_wt=19077
     Region          <1..>172
                     /region_name="Mtc"
                     /note="Tricarboxylate carrier; cl04275"
                     /db_xref="CDD:446331"
     CDS             1..177
                     /gene="SFXN5"
                     /gene_synonym="BBG-TCC; SLC56A5"
                     /coded_by="NM_001330408.2:290..823"
                     /note="isoform 10 is encoded by transcript variant 10"
                     /db_xref="GeneID:94097"
                     /db_xref="HGNC:HGNC:16073"
                     /db_xref="MIM:615572"
ORIGIN      
        1 mpfrmsgyip fgtpivvgll lpnqtlastv fwqwlnqshn acvnyanrna tkpspaskfi
       61 qgylgavisa vsiavglnvl vqkankftpa trlliqrfvp fpavasanic nvvlmrygel
      121 eegidvldsd gnlvgsskia arhalletal trvvlpmpil vlppivmsml eklkhpn
//
LOCUS       NP_116271                399 aa            linear   PRI 27-DEC-2022
DEFINITION  paraneoplastic antigen-like protein 6A [Homo sapiens].
ACCESSION   NP_116271 NP_001164415
VERSION     NP_116271.3
DBSOURCE    REFSEQ: accession NM_032882.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 399)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 399)
  AUTHORS   Wills NM, Moore B, Hammer A, Gesteland RF and Atkins JF.
  TITLE     A functional -1 ribosomal frameshift signal in the human
            paraneoplastic Ma3 gene
  JOURNAL   J Biol Chem 281 (11), 7082-7088 (2006)
   PUBMED   16407312
REFERENCE   3  (residues 1 to 399)
  AUTHORS   Schuller M, Jenne D and Voltz R.
  TITLE     The human PNMA family: novel neuronal proteins implicated in
            paraneoplastic neurological disease
  JOURNAL   J Neuroimmunol 169 (1-2), 172-176 (2005)
   PUBMED   16214224
REFERENCE   4  (residues 1 to 399)
  AUTHORS   Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H,
            Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff
            S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksoz E, Droege A,
            Krobitsch S, Korn B, Birchmeier W, Lehrach H and Wanker EE.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
REFERENCE   5  (residues 1 to 399)
  AUTHORS   Mallon AM, Platzer M, Bate R, Gloeckner G, Botcherby MR, Nordsiek
            G, Strivens MA, Kioschis P, Dangel A, Cunningham D, Straw RN,
            Weston P, Gilbert M, Fernando S, Goodall K, Hunter G, Greystrong
            JS, Clarke D, Kimberley C, Goerdes M, Blechschmidt K, Rump A,
            Hinzmann B, Mundy CR, Miller W, Poustka A, Herman GE, Rhodes M,
            Denny P, Rosenthal A and Brown SD.
  TITLE     Comparative genome sequence analysis of the Bpa/Str region in mouse
            and Man
  JOURNAL   Genome Res 10 (6), 758-775 (2000)
   PUBMED   10854409
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC243428.4 and AC243374.4.
            This sequence is a reference standard in the RefSeqGene project.
            On or before May 15, 2015 this sequence version replaced
            NP_001164415.1, NP_116271.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK289879.1, SRR14038191.1835734.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000421798.5/ ENSP00000391488.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..399
                     /product="paraneoplastic antigen-like protein 6A"
                     /note="paraneoplastic antigen-like 6A related protein;
                     paraneoplastic antigen-like protein 6C; paraneoplastic Ma
                     antigen family member 6C; paraneoplastic Ma antigen family
                     member 6A"
                     /calculated_mol_wt=43744
     Region          1..319
                     /region_name="PNMA"
                     /note="pfam14893"
                     /db_xref="CDD:434292"
     CDS             1..399
                     /gene="PNMA6A"
                     /gene_synonym="MA6; PNMA6; PNMA6C"
                     /coded_by="NM_032882.6:282..1481"
                     /db_xref="CCDS:CCDS14719.1"
                     /db_xref="GeneID:84968"
                     /db_xref="HGNC:HGNC:28248"
                     /db_xref="MIM:300917"
ORIGIN      
        1 mavtmlqdwc rwmgvnarrg llilgipedc ddaefqesle aalrpmghft vlgkafreed
       61 nataalveld revnyalvpr eipgtggpwn vvfvprcsge eflglgrvfh fpeqegqmve
      121 svagalgvgl rrvcwlrsig qavqpwveav rcqslgvfsg rdqpapgees fevwldhtte
      181 mlhvwqgvse rerrrrlleg lrgtalqlvh allaenpart aqdclaalaq vfgdnesqat
      241 irvkcltaqq qsgerlsafv lrlevllqka mekealaras adrvrlrqml trahltepld
      301 ealrklrmag rspsflemlg lvreseawea slarsvraqt qegagaraga qavarastkv
      361 eavpggpgre pegllqaggq eaeellqegl kpvleecdn
//
LOCUS       NP_001372747             359 aa            linear   PRI 28-DEC-2022
DEFINITION  RNA binding protein fox-1 homolog 3 isoform 2 [Homo sapiens].
ACCESSION   NP_001372747
VERSION     NP_001372747.1
DBSOURCE    REFSEQ: accession NM_001385818.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 359)
  AUTHORS   Wang X, Guo Z, Zhu H, Xin J, Yuan L, Qin C, Wang M, Zhang Z, Wang Y
            and Chu H.
  TITLE     Genetic variants in splicing factor genes and susceptibility to
            bladder cancer
  JOURNAL   Gene 809, 146022 (2022)
   PUBMED   34673209
  REMARK    GeneRIF: Genetic variants in splicing factor genes and
            susceptibility to bladder cancer.
REFERENCE   2  (residues 1 to 359)
  AUTHORS   Ungari M, Manotti L, Tanzi G, Varotti E, Ferrero G, Gusolfino MD,
            Trombatore M, Cavazzuti L and Tolomini M.
  TITLE     NeuN, a DNA-binding neuron-specific protein expressed by Merkel
            cell carcinoma: analysis of 15 cases
  JOURNAL   Pathologica 113 (6), 421-426 (2021)
   PUBMED   34974547
  REMARK    GeneRIF: NeuN, a DNA-binding neuron-specific protein expressed by
            Merkel cell carcinoma: analysis of 15 cases.
REFERENCE   3  (residues 1 to 359)
  AUTHORS   Behesti H, Kocabas A, Buchholz DE, Carroll TS and Hatten ME.
  TITLE     Altered temporal sequence of transcriptional regulators in the
            generation of human cerebellar granule cells
  JOURNAL   Elife 10, e67074 (2021)
   PUBMED   34842137
  REMARK    GeneRIF: Altered temporal sequence of transcriptional regulators in
            the generation of human cerebellar granule cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 359)
  AUTHORS   Tascon-Arcila J, Rojas-Jimenez S, Cornejo-Sanchez D, Gomez-Builes
            P, Ucroz-Benavides A, Holguin BM, Restrepo-Arbelaez D,
            Gomez-Castillo C, Solarte-Mia R, Cornejo-Ochoa W and
            Pineda-Trujillo N.
  TITLE     Differential Clinical Features in Colombian Patients With Rolandic
            Epilepsy and Suggestion of Unlikely Association With GRIN2A,
            RBFOX1, or RBFOX3 Gene Variants
  JOURNAL   J Child Neurol 36 (10), 875-882 (2021)
   PUBMED   34039076
  REMARK    GeneRIF: Differential Clinical Features in Colombian Patients With
            Rolandic Epilepsy and Suggestion of Unlikely Association With
            GRIN2A, RBFOX1, or RBFOX3 Gene Variants.
REFERENCE   5  (residues 1 to 359)
  AUTHORS   Liu T, Wu X, Li Y, Lu W, Zheng F, Zhang C, Long Q, Qiu H, Li Y, Ge
            Q, Chen M, Yu X, Chen W, Zhang H, Huang W, Luo M, Deng W and Li L.
  TITLE     RBFOX3 Regulates the Chemosensitivity of Cancer Cells to
            5-Fluorouracil via the PI3K/AKT, EMT and Cytochrome-C/Caspase
            Pathways
  JOURNAL   Cell Physiol Biochem 46 (4), 1365-1380 (2018)
   PUBMED   29689552
  REMARK    GeneRIF: RBFOX3 knockdown synergized with 5-FU to inhibit the
            growth and invasion of HCC cells through PI3K/AKT and
            epithelial-mesenchymal transition (EMT) signaling, and promote
            apoptosis by activating the cytochrome-c/caspase signaling pathway.
REFERENCE   6  (residues 1 to 359)
  AUTHORS   Lal D, Reinthaler EM, Altmuller J, Toliat MR, Thiele H, Nurnberg P,
            Lerche H, Hahn A, Moller RS, Muhle H, Sander T, Zimprich F and
            Neubauer BA.
  TITLE     RBFOX1 and RBFOX3 mutations in rolandic epilepsy
  JOURNAL   PLoS One 8 (9), e73323 (2013)
   PUBMED   24039908
  REMARK    GeneRIF: Exome sequencing of 242 rolandic epilepsy patients
            revealed two novel probably deleterious variants in RBFOX1, a
            frameshift mutation (p.A233Vfs*74) and a hexanucleotide deletion
            (p.A299_A300del), and a novel nonsense mutation in RBFOX3
            (p.Y287*).
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 359)
  AUTHORS   Beaty TH, Taub MA, Scott AF, Murray JC, Marazita ML, Schwender H,
            Parker MM, Hetmanski JB, Balakrishnan P, Mansilla MA, Mangold E,
            Ludwig KU, Noethen MM, Rubini M, Elcioglu N and Ruczinski I.
  TITLE     Confirming genes influencing risk to cleft lip with/without cleft
            palate in a case-parent trio study
  JOURNAL   Hum Genet 132 (7), 771-781 (2013)
   PUBMED   23512105
  REMARK    GeneRIF: In addition, eight genes classified as 'second tier' hits
            in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2,
            GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and
            association in this replication sample.
REFERENCE   8  (residues 1 to 359)
  AUTHORS   Hagel C, Treszl A, Fehlert J, Harder J, von Haxthausen F, Kern M,
            von Bueren AO and Kordes U.
  TITLE     Supra- and infratentorial pediatric ependymomas differ
            significantly in NeuN, p75 and GFAP expression
  JOURNAL   J Neurooncol 112 (2), 191-197 (2013)
   PUBMED   23371454
  REMARK    GeneRIF: High NeuN levels are associated with supratentorial
            ependymomas.
REFERENCE   9  (residues 1 to 359)
  AUTHORS   Kim KK, Adelstein RS and Kawamoto S.
  TITLE     Identification of neuronal nuclei (NeuN) as Fox-3, a new member of
            the Fox-1 gene family of splicing factors
  JOURNAL   J Biol Chem 284 (45), 31052-31061 (2009)
   PUBMED   19713214
  REMARK    GeneRIF: NeuN (neuronal nuclei) is a neuron-specific nuclear
            protein identified by anti-NeuN antibody, and widely used as the
            postmitotic neuron marker. NeuN is identified as the Fox-3 gene
            product by mass spectrometry, immunoblotting, RNAi, and
            immunostaining.
REFERENCE   10 (residues 1 to 359)
  AUTHORS   Underwood JG, Boutz PL, Dougherty JD, Stoilov P and Black DL.
  TITLE     Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal
            splicing regulators in mammals
  JOURNAL   Mol Cell Biol 25 (22), 10005-10016 (2005)
   PUBMED   16260614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC233701.6, AC055858.18,
            AC020689.8, AC021534.19 and AC073624.28.
            
            Summary: This gene encodes a member of the RNA-binding FOX protein
            family which is involved in the regulation of alternative splicing
            of pre-mRNA. The protein has an N-terminal proline-rich region, an
            RNA recognition motif (RRM) domain, and a C-terminal alanine-rich
            region. This gene produces the neuronal nuclei (NeuN) antigen that
            has been widely used as a marker for post-mitotic neurons. This
            gene has its highest expression in the central nervous system and
            plays a prominent role in neural tissue development and regulation
            of adult brain function. Mutations in this gene have been
            associated with numerous neurological disorders. Alternative
            splicing of this gene results in multiple transcript variants
            encoding distinct isoforms. [provided by RefSeq, May 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR3476690.63973.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1968189,
                                    SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..359
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..359
                     /product="RNA binding protein fox-1 homolog 3 isoform 2"
                     /note="fox-1 homolog C; hexaribonucleotide binding protein
                     3; neuN antigen; neuronal nuclei antigen; RNA binding
                     protein, fox-1 homolog 3"
                     /calculated_mol_wt=38724
     Region          27..232
                     /region_name="RRM"
                     /note="RNA recognition motif (RRM) domain [Translation,
                     ribosomal structure and biogenesis]; COG0724"
                     /db_xref="CDD:223796"
     Region          99..174
                     /region_name="RRM_FOX1_like"
                     /note="RNA recognition motif (RRM) found in vertebrate RNA
                     binding protein fox-1 homologs and similar proteins;
                     cd12407"
                     /db_xref="CDD:409841"
     Site            order(100,102,104..109,129..133,135..140,142,166,171..174)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:409841"
     Region          208..344
                     /region_name="Fox-1_C"
                     /note="Calcitonin gene-related peptide regulator C
                     terminal; pfam12414"
                     /db_xref="CDD:432537"
     CDS             1..359
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /coded_by="NM_001385818.1:617..1696"
                     /note="isoform 2 is encoded by transcript variant 18"
                     /db_xref="CCDS:CCDS92410.1"
                     /db_xref="GeneID:146713"
                     /db_xref="HGNC:HGNC:27097"
                     /db_xref="MIM:616999"
ORIGIN      
        1 maqpyppaqy ppppqngipa eyapppphpt qdysgqtpvp tehgmtlytp aqthpeqpgs
       61 eastqpiagt qtvpqtdeaa qtdsqplhps dptekqqpkr lhvsnipfrf rdpdlrqmfg
      121 qfgkildvei ifnergskgf gfvtfetssd adrareklng tivegrkiev nnatarvmtn
      181 kktgnpytng wklnpvvgav ygpefyavtg fpypttgtav ayrgahlrgr gravyntfra
      241 apppppipty gaaleqtlvk mpvpwaglap cplppqqtpe payptspafp plscpfasrv
      301 vyqdgfygae iyggyaayry aqpaaaaaay sdsygrvyaa adpyhhtigp aatysigtm
//
LOCUS       NP_001245262             449 aa            linear   PRI 29-DEC-2022
DEFINITION  histidine ammonia-lyase isoform 2 [Homo sapiens].
ACCESSION   NP_001245262
VERSION     NP_001245262.1
DBSOURCE    REFSEQ: accession NM_001258333.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 449)
  AUTHORS   Chen K, Liu H, Liu Z, Bloomer W, Amos CI, Lee JE, Li X, Nan H and
            Wei Q.
  TITLE     Genetic variants in glutamine metabolic pathway genes predict
            cutaneous melanoma-specific survival
  JOURNAL   Mol Carcinog 58 (11), 2091-2103 (2019)
   PUBMED   31435991
  REMARK    GeneRIF: In the analysis of the genotype tissue expression (GTEx)
            project datasets, HAL rs17676826 C and NOXRED1 rs8012548 G alleles
            were significantly associated with their mRNA expression levels in
            sun-exposed skin of the lower leg (P = 6.62 x 10(-6) and 1.37 x
            10(-7) , respectively) and in sun-not-exposed suprapubic skin (P <
            .001 and 1.43 x 10(-8) , respectively).
REFERENCE   2  (residues 1 to 449)
  AUTHORS   Yu B, Li AH, Muzny D, Veeraraghavan N, de Vries PS, Bis JC, Musani
            SK, Alexander D, Morrison AC, Franco OH, Uitterlinden A, Hofman A,
            Dehghan A, Wilson JG, Psaty BM, Gibbs R, Wei P and Boerwinkle E.
  TITLE     Association of Rare Loss-Of-Function Alleles in HAL, Serum
            Histidine: Levels and Incident Coronary Heart Disease
  JOURNAL   Circ Cardiovasc Genet 8 (2), 351-355 (2015)
   PUBMED   25575548
  REMARK    GeneRIF: Three LoF mutations in HAL were associated with increased
            histidine levels, which in turn were shown to be inversely related
            to the risk of CHD among both African Americans and European
            Americans.
REFERENCE   3  (residues 1 to 449)
  AUTHORS   Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML and Seielstad M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 449)
  AUTHORS   Welsh MM, Karagas MR, Applebaum KM, Spencer SK, Perry AE and Nelson
            HH.
  TITLE     A role for ultraviolet radiation immunosuppression in non-melanoma
            skin cancer as evidenced by gene-environment interactions
  JOURNAL   Carcinogenesis 29 (10), 1950-1954 (2008)
   PUBMED   18641401
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   5  (residues 1 to 449)
  AUTHORS   Eckhart L, Schmidt M, Mildner M, Mlitz V, Abtin A, Ballaun C,
            Fischer H, Mrass P and Tschachler E.
  TITLE     Histidase expression in human epidermal keratinocytes: regulation
            by differentiation status and all-trans retinoic acid
  JOURNAL   J Dermatol Sci 50 (3), 209-215 (2008)
   PUBMED   18280705
  REMARK    GeneRIF: histidase is upregulated during keratinocyte
            differentiation and that all-trans retinoic acid but not UV
            irradiation modulates the expression level
REFERENCE   6  (residues 1 to 449)
  AUTHORS   Aleman G, Ortiz V, Langley E, Tovar AR and Torres N.
  TITLE     Regulation by glucagon of the rat histidase gene promoter in
            cultured rat hepatocytes and human hepatoblastoma cells
  JOURNAL   Am J Physiol Endocrinol Metab 289 (1), E172-E179 (2005)
   PUBMED   15741241
  REMARK    GeneRIF: This evidence supports that the Hal gene is turned on by
            glucocorticoids and by glucagon either via PKC or PKA, but prefers
            the PKA pathway.
REFERENCE   7  (residues 1 to 449)
  AUTHORS   Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita
            H and Suchi M.
  TITLE     Molecular characterization of histidinemia: identification of four
            missense mutations in the histidase gene
  JOURNAL   Hum Genet 116 (5), 340-346 (2005)
   PUBMED   15806399
  REMARK    GeneRIF: This report describes the first mutations occurring in the
            coding region of the histidase structural gene in patients with
            histidinemia.
            Erratum:[Hum Genet. 2005 Dec;118(3-4):531-2]
REFERENCE   8  (residues 1 to 449)
  AUTHORS   Suchi M, Sano H, Mizuno H and Wada Y.
  TITLE     Molecular cloning and structural characterization of the human
            histidase gene (HAL)
  JOURNAL   Genomics 29 (1), 98-104 (1995)
   PUBMED   8530107
REFERENCE   9  (residues 1 to 449)
  AUTHORS   Suchi M, Harada N, Wada Y and Takagi Y.
  TITLE     Molecular cloning of a cDNA encoding human histidase
  JOURNAL   Biochim Biophys Acta 1216 (2), 293-295 (1993)
   PUBMED   7916645
REFERENCE   10 (residues 1 to 449)
  AUTHORS   Taylor RG, Garcia-Heras J, Sadler SJ, Lafreniere RG, Willard HF,
            Ledbetter DH and McInnes RR.
  TITLE     Localization of histidase to human chromosome region 12q22----q24.1
            and mouse chromosome region 10C2----D1
  JOURNAL   Cytogenet Cell Genet 56 (3-4), 178-181 (1991)
   PUBMED   2055114
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL596896.1, AK303544.1,
            D16626.1, AC126174.9 and AI248003.1.
            
            Summary: Histidine ammonia-lyase is a cytosolic enzyme catalyzing
            the first reaction in histidine catabolism, the nonoxidative
            deamination of L-histidine to trans-urocanic acid. Histidine
            ammonia-lyase defects cause histidinemia which is characterized by
            increased histidine and histamine and decreased urocanic acid in
            body fluids. Several transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Apr
            2012].
            
            Transcript Variant: This variant (2) lacks an alternate coding exon
            compared to variant 1, that causes a frameshift. The resulting
            isoform (2) is shorter at the N-terminus compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK303544.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     Protein         1..449
                     /product="histidine ammonia-lyase isoform 2"
                     /EC_number="4.3.1.3"
                     /note="histidase"
                     /calculated_mol_wt=48992
     Region          1..417
                     /region_name="hutH"
                     /note="histidine ammonia-lyase; TIGR01225"
                     /db_xref="CDD:200086"
     Site            order(12,40..41,54,57,143..144,147..148,150,153,184,
                     186..188,190..191,194..195,201..202,205,208..209,212..213,
                     216..217,222..224,229,231..237,239..240,243,247,254,257,
                     261,265,268,271,283..284,286..287,289..292,294,296..301,
                     303..306,317..323,326,332..333,336,339..340)
                     /site_type="other"
                     /note="tetramer interface [polypeptide binding]"
                     /db_xref="CDD:176460"
     CDS             1..449
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /coded_by="NM_001258333.2:906..2255"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS58264.1"
                     /db_xref="GeneID:3034"
                     /db_xref="HGNC:HGNC:4806"
                     /db_xref="MIM:609457"
ORIGIN      
        1 mllalrinvl akgysgisle tlkqviemfn asclpyvpek gtvgasgdla plshlalglv
       61 gegkmwspks gwadakyvle ahglkpvilk pkeglaling tqmitslgce averasaiar
      121 qadivaaltl evlkgttkaf dtdihalrph rgqievafrf rslldsdhhp seiaeshrfc
      181 drvqdaytlr ccpqvhgvvn dtiafvknii ttelnsatdn pmvfanrget vsggnfhgey
      241 pakaldylai gihelaaise rrierlcnps lselpaflva egglnsgfmi ahctaaalvs
      301 enkalchpss vdslstsaat edhvsmggwa arkalrvieh veqvlaiell aacqgieflr
      361 plktttplek vydlvrsvvr pwikdrfmap dieaahrlll eqkvwevaap yiekyrmehi
      421 pesrplspta fslqflhkks tkipesedl
//
LOCUS       NP_001371223             540 aa            linear   PRI 29-DEC-2022
DEFINITION  lebercilin-like protein isoform b [Homo sapiens].
ACCESSION   NP_001371223
VERSION     NP_001371223.1
DBSOURCE    REFSEQ: accession NM_001384294.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 540)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 540)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 540)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 540)
  AUTHORS   Alves da Silva AF, Machado FB, Pavarino EC, Biselli-Perico JM,
            Zampieri BL, da Silva Francisco Junior R, Mozer Rodrigues PT, Terra
            Machado D, Santos-Reboucas CB, Gomes Fernandes M, Chuva de Sousa
            Lopes SM, Lopes Rios AF and Medina-Acosta E.
  TITLE     Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and
            -Independent Manners
  JOURNAL   PLoS One 11 (4), e0154108 (2016)
   PUBMED   27100087
  REMARK    GeneRIF: RNA-seq evidence of biallelic expression of LCA5L and 10
            neighboring genes in at least one primary human tissue tested
            indicates that the expression of LCA5L is uncoupled from the
            control of the maternally inherited 5mCpG imprints at the WRB
            differentially methylated region (DMR) in disomic controls or
            trisomy (Down syndrome) individuals.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 540)
  AUTHORS   den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns
            KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S,
            Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H,
            Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk
            E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum
            U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF and Roepman R.
  TITLE     Mutations in LCA5, encoding the ciliary protein lebercilin, cause
            Leber congenital amaurosis
  JOURNAL   Nat Genet 39 (7), 889-895 (2007)
   PUBMED   17546029
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF121781.1.
            
            Transcript Variant: This variant (10) differs in the 5' UTR
            compared to variant 8. Variants 8-12 all encode the same isoform
            (b).
            
            ##Evidence-Data-START##
            CDS exon combination :: DB336634.1, SRR5189667.86593.1
                                    [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1966682,
                                    SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: lack of evidence for use of
                                                upstream AUG
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..540
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.2"
     Protein         1..540
                     /product="lebercilin-like protein isoform b"
                     /note="lebercilin-like protein; leber congenital amaurosis
                     5-like protein; LCA5L, lebercilin like"
                     /calculated_mol_wt=61692
     Region          9..201
                     /region_name="Lebercilin"
                     /note="Ciliary protein causing Leber congenital amaurosis
                     disease; pfam15619"
                     /db_xref="CDD:434815"
     CDS             1..540
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /coded_by="NM_001384294.1:190..1812"
                     /note="isoform b is encoded by transcript variant 10"
                     /db_xref="GeneID:150082"
                     /db_xref="HGNC:HGNC:1255"
ORIGIN      
        1 miaqrrdama hrilsarlhk ikglknelad mhhkleailt enqflkqlql rhlkaigkye
       61 nsqnnlpqim akhqnevknl rqllrksqek ertlsrklre tdsqllktkd ilqalqklse
      121 dknlaereel thklsiittk mdandkkiqs lekqlrlncr afsrqlaiet rktlaaqtat
      181 ktlqvevkhl qqklkekdre leikniyshr ilknlhdted ypkvsstksv qadrkilpft
      241 smrhqgtqks dvpplttkgk katgnidhke ksteinheip hcvnklpkqe dskrkyedls
      301 geekhlevqi llentgrqkd kkedqekkni fvkeeqelpp kiievihper esnqedvlvr
      361 ekfkrsmqrn gvddtlgkgt apytkgplrq rrhysfteat enlhhglpas ggpanagnmr
      421 yshstgkhls nreemelehs dsgyepsfgk ssrikvkdtt frdkksslme elfgsgyvlk
      481 tdqsspgvak gseeplqske shplppsqas tshafgdskv tvvnsikpss ptegkrkiii
//
LOCUS       NP_060949                145 aa            linear   PRI 29-DEC-2022
DEFINITION  ethylmalonyl-CoA decarboxylase isoform 2 [Homo sapiens].
ACCESSION   NP_060949
VERSION     NP_060949.2
DBSOURCE    REFSEQ: accession NM_018479.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 145)
  AUTHORS   Fogh S, Dipace G, Bie A, Veiga-da-Cunha M, Hansen J, Kjeldsen M,
            Mosegaard S, Ribes A, Gregersen N, Aagaard L, Van Schaftingen E and
            Olsen RKJ.
  TITLE     Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a
            novel player in ethylmalonic aciduria?
  JOURNAL   J Inherit Metab Dis 44 (5), 1215-1225 (2021)
   PUBMED   33973257
  REMARK    GeneRIF: Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1)
            gene: a novel player in ethylmalonic aciduria?
REFERENCE   2  (residues 1 to 145)
  AUTHORS   Jaiswal A, Gautam P, Pietila EA, Timonen S, Nordstrom N, Akimov Y,
            Sipari N, Tanoli Z, Fleischer T, Lehti K, Wennerberg K and
            Aittokallio T.
  TITLE     Multi-modal meta-analysis of cancer cell line omics profiles
            identifies ECHDC1 as a novel breast tumor suppressor
  JOURNAL   Mol Syst Biol 17 (3), e9526 (2021)
   PUBMED   33750001
  REMARK    GeneRIF: Multi-modal meta-analysis of cancer cell line omics
            profiles identifies ECHDC1 as a novel breast tumor suppressor.
REFERENCE   3  (residues 1 to 145)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 145)
  AUTHORS   Linster CL, Noel G, Stroobant V, Vertommen D, Vincent MF, Bommer
            GT, Veiga-da-Cunha M and Van Schaftingen E.
  TITLE     Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite
            proofreading
  JOURNAL   J Biol Chem 286 (50), 42992-43003 (2011)
   PUBMED   22016388
REFERENCE   5  (residues 1 to 145)
  AUTHORS   Enciso-Mora V, Hosking FJ and Houlston RS.
  TITLE     Risk of breast and prostate cancer is not associated with increased
            homozygosity in outbred populations
  JOURNAL   Eur J Hum Genet 18 (8), 909-914 (2010)
   PUBMED   20407466
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   6  (residues 1 to 145)
  AUTHORS   Zheng W, Cai Q, Signorello LB, Long J, Hargreaves MK, Deming SL, Li
            G, Li C, Cui Y and Blot WJ.
  TITLE     Evaluation of 11 breast cancer susceptibility loci in
            African-American women
  JOURNAL   Cancer Epidemiol Biomarkers Prev 18 (10), 2761-2764 (2009)
   PUBMED   19789366
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   7  (residues 1 to 145)
  AUTHORS   Menachem TD, Laitman Y, Kaufman B and Friedman E.
  TITLE     The RNF146 and ECHDC1 genes as candidates for inherited breast and
            ovarian cancer in Jewish Ashkenazi women
  JOURNAL   Fam Cancer 8 (4), 399-402 (2009)
   PUBMED   19517271
  REMARK    GeneRIF: Mutations in the coding regions of the RNF146 and ECHDC1
            genes do not contribute to the burden of inherited predisposition
            of breast cancer in Ashkenazi high risk women.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 145)
  AUTHORS   Gold B, Kirchhoff T, Stefanov S, Lautenberger J, Viale A, Garber J,
            Friedman E, Narod S, Olshen AB, Gregersen P, Kosarin K, Olsh A,
            Bergeron J, Ellis NA, Klein RJ, Clark AG, Norton L, Dean M, Boyd J
            and Offit K.
  TITLE     Genome-wide association study provides evidence for a breast cancer
            risk locus at 6q22.33
  JOURNAL   Proc Natl Acad Sci U S A 105 (11), 4340-4345 (2008)
   PUBMED   18326623
  REMARK    GeneRIF: Genome-wide association study of gene-disease association.
            (HuGE Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC297239.1, BQ224769.1 and AL834469.1.
            On Jul 26, 2004 this sequence version replaced NP_060949.1.
            
            Transcript Variant: This variant (2) lacks an alternate exon
            compared to variant 1, that causes a frameshift. The resulting
            isoform (2) has a shorter and distinct C-terminus compared to
            isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853564.23893.1,
                                           SRR11853560.25281.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..145
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.33"
     Protein         1..145
                     /product="ethylmalonyl-CoA decarboxylase isoform 2"
                     /EC_number="4.1.1.94"
                     /note="enoyl Coenzyme A hydratase domain containing 1;
                     enoyl-CoA hydratase domain-containing protein 1;
                     methylmalonyl-CoA decarboxylase; epididymis secretory
                     protein Li 76; enoyl CoA hydratase domain containing 1"
                     /calculated_mol_wt=15752
     Region          54..>124
                     /region_name="crotonase-like"
                     /note="Crotonase/Enoyl-Coenzyme A (CoA) hydratase
                     superfamily. This superfamily contains a diverse set of
                     enzymes including enoyl-CoA hydratase, napthoate synthase,
                     methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA
                     dehydratase, and dienoyl-CoA isomerase; cd06558"
                     /db_xref="CDD:119339"
     CDS             1..145
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /coded_by="NM_018479.4:277..714"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS34530.1"
                     /db_xref="GeneID:55862"
                     /db_xref="HGNC:HGNC:21489"
                     /db_xref="MIM:612136"
ORIGIN      
        1 maksllktas lsgrtkllhq tglslystsh gfyeeevkkt lqqfpggsid lqkedngigi
       61 ltlnnpsrmn afsgvmmlql lekvielenw tegkglivrg akntfssgsd lnavkslgtp
      121 etsfnkccag srlgigwrsr iyysm
//
LOCUS       NP_001372793            1953 aa            linear   PRI 30-DEC-2022
DEFINITION  protein dopey-1 isoform g [Homo sapiens].
ACCESSION   NP_001372793
VERSION     NP_001372793.1
DBSOURCE    REFSEQ: accession NM_001385864.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1953)
  AUTHORS   Lend AK, Kazantseva A, Kivil A, Valvere V and Palm K.
  TITLE     Diagnostic significance of alternative splice variants of REST and
            DOPEY1 in the peripheral blood of patients with breast cancer
  JOURNAL   Tumour Biol 36 (4), 2473-2480 (2015)
   PUBMED   25424701
  REMARK    GeneRIF: Assessment of REST-N50 and DOPEY1v2 may prove useful in
            diagnostic blood tests of breast cancer. REST-N50 shows a high
            potential as a blood biomarker for evaluating the effectiveness of
            therapy in the neoadjuvant setting.
REFERENCE   2  (residues 1 to 1953)
  AUTHORS   Gillingham AK, Whyte JR, Panic B and Munro S.
  TITLE     Mon2, a relative of large Arf exchange factors, recruits Dop1 to
            the Golgi apparatus
  JOURNAL   J Biol Chem 281 (4), 2273-2280 (2006)
   PUBMED   16301316
REFERENCE   3  (residues 1 to 1953)
  AUTHORS   Pascon RC and Miller BL.
  TITLE     Morphogenesis in Aspergillus nidulans requires Dopey (DopA), a
            member of a novel family of leucine zipper-like proteins conserved
            from yeast to humans
  JOURNAL   Mol Microbiol 36 (6), 1250-1264 (2000)
   PUBMED   10931277
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL139333.10 and AL121716.16.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.277901.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157437 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1953
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.1"
     Protein         1..1953
                     /product="protein dopey-1 isoform g"
                     /note="homolog of yeast DOP1; protein dopey-1; dopey
                     family member 1"
                     /calculated_mol_wt=219129
     Region          <1579..1815
                     /region_name="Dopey_N"
                     /note="Dopey, N-terminal; cl04407"
                     /db_xref="CDD:446380"
     CDS             1..1953
                     /gene="DOP1A"
                     /gene_synonym="dJ202D23.2; DOP1; DOPEY1; KIAA1117"
                     /coded_by="NM_001385864.1:1675..7536"
                     /note="isoform g is encoded by transcript variant 10"
                     /db_xref="GeneID:23033"
                     /db_xref="HGNC:HGNC:21194"
                     /db_xref="MIM:616823"
ORIGIN      
        1 misaltshlq tlhlseltds lrlcskilsk vqppllsast ggvlqfpsgq nnsvkewedk
       61 kvssvshenp tevfedgenp pssrssesgf tefiqyqadr tddidrelse gqgaaaipig
      121 stssetetas tvgseetiiq tpsvvtqgta trsrktaqkt amqccleyvq qfltrlinly
      181 iiqnnsfsqs latehqgdlg reqgetskwd rnsqgdvkek niskqktske ylsaflaacq
      241 lflecssfpv yiaegnhtse lrsekletdc ehvqppqwlq tlmnacsqas dfsvqsvais
      301 lvmdlvgltq svamvtgeni nsvepaqpls pnqgrvavvi rppltqgnlr yiaekteffk
      361 hvaltlwdql gdgtpqhhqk svelfyqlhn lvpsssiced visqqlthkd kkirmeahak
      421 favlwhltrd lhinksssfv rsfdrslfim ldslnsldgs tssvgqawln qvlqrhdiar
      481 vlepllllll hpktqrvsvq rvqaerywnk spcypgeesd khfmqnfacs nvsqvqlits
      541 kgngekpltm deienfsltv nplsdrlsll stssetipmv vsdfdlpdqq ieilqssdsg
      601 csqssagdnl syevdpetvn aqedsqmpke sspdddvqqv vfdlickvvs glevesasvt
      661 sqleieampp kcsdidpdee tikieddsiq qsqnallsne ssqflsvsae gghecvangi
      721 srnssspcis gtthtlhdss vasietksrq rshssiqfsf keklsekvse ketivkesgk
      781 qpgakpkvkl arkkdddkkk ssneklkqts vffsdgldle nwyscgegdi seiesdmgsp
      841 gsrkspnfni hplyqhvlly lqlydssrtl yafsaikail ktnpiafvna isttsvnnay
      901 tpqlsllqnl larhrisvmg kdfyshipvd snhnfrssmy ieilislcly ymrshypthv
      961 kvtaqdlign rnmqmmsiei ltllftelak viessakgfp sfisdmlskc kvqkvilhcl
     1021 lssifsaqkw hsekmagknl vaveegfsed slinfsedef dngstlqsql lkvlqrlivl
     1081 ehrvmtipee netgfdfvvs dlehisphqp mtslqylhaq pitcqgmflc aviralhqhc
     1141 ackmhpqwig litstlpymg kvlqrvvvsv tlqlcrnldn liqqykyetg lsdsrplwma
     1201 siippdmilt llegitaiih yclldpttqy hqllvsvdqk hlfearsgil silhmimssv
     1261 tllwsilhqa dssekmtiaa saslttinlg atknlrqqil ellgpismnh gvhfmaaiaf
     1321 vwnerrqnkt ttrtkvipaa seeqlllvel vrsisvmrae tviqtvkevl kqppaiakdk
     1381 khlslevcml qffyayiqri pvpnlvdswa sllillkdsi qlslpapgqf lilgvlnefi
     1441 mknpslenkk dqrdlqdvth kivdaigaia gssleqttwl rrnlevkpsp kimvdgtnle
     1501 sdvedmlspa metanitpsv ysvhaltlls evlahlldmv fysdekervi pllvnimhyv
     1561 vpylrnhsah napsyracvq llsslsgyqy trrawkkeaf dlfmdpsffq mdascvnhwr
     1621 aimdnlmthd kttfrdlmtr vavaqsssln lfanrdvele qramllkrla faifsseidq
     1681 yqkylpdiqe rlveslrlpq vptlhsqvfl ffrvlllrms pqhltslwpt mitelvqvfl
     1741 lmeqeltade disrtsgpsv aglettytgg ngfstsynsq rwlnlylsac kfldlalalp
     1801 senlpqfqmy rwafipeasd dsglevrrqg ihqrefkpyv vrlakllrkr akknpeedns
     1861 grtlgwepgh llltictvrs meqllpffnv lsqvfnskvt srcgghsgsp ilysnafpnk
     1921 dmklenhkpc sskarqkiee mvekdflegm ikt
//
LOCUS       NP_001258215             538 aa            linear   PRI 30-DEC-2022
DEFINITION  zinc finger protein 512 isoform b [Homo sapiens].
ACCESSION   NP_001258215
VERSION     NP_001258215.1
DBSOURCE    REFSEQ: accession NM_001271286.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 538)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 538)
  AUTHORS   Yu CJ, Wang L, Mao SL, Zhang Y, Song LL, Cai LY and Tao Y.
  TITLE     The clinical assessment of amyotrophic lateral sclerosis patients'
            prognosis by ZNF512B gene, neck flexor muscle power score and body
            mass index (BMI)
  JOURNAL   BMC Neurol 18 (1), 211 (2018)
   PUBMED   30567526
  REMARK    GeneRIF: risk (C) allele of the SNP (rs2275294) in the ZNF512B
            gene, cervical flexor muscle power and body weight index might have
            clinical potential for amyotrophic lateral sclerosis
            prognostication
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 538)
  AUTHORS   Bao L, Zhang Y, Wang J, Wang H, Dong N, Su X, Xu M and Wang X.
  TITLE     Variations of chromosome 2 gene expressions among patients with
            lung cancer or non-cancer
  JOURNAL   Cell Biol Toxicol 32 (5), 419-435 (2016)
   PUBMED   27301951
  REMARK    GeneRIF: MFSD2B, CCL20 and STAT1, or STARD7 and ZNF512 genes may be
            risk or protect factors in prognosis of ADC; HTR2B, DPP4, and
            TGFBRAP1 genes may be risk factors in prognosis of SQC.
REFERENCE   4  (residues 1 to 538)
  AUTHORS   Weissglas-Volkov D, Aguilar-Salinas CA, Nikkola E, Deere KA,
            Cruz-Bautista I, Arellano-Campos O, Munoz-Hernandez LL,
            Gomez-Munguia L, Ordonez-Sanchez ML, Reddy PM, Lusis AJ, Matikainen
            N, Taskinen MR, Riba L, Cantor RM, Sinsheimer JS, Tusie-Luna T and
            Pajukanta P.
  TITLE     Genomic study in Mexicans identifies a new locus for triglycerides
            and refines European lipid loci
  JOURNAL   J Med Genet 50 (5), 298-308 (2013)
   PUBMED   23505323
REFERENCE   5  (residues 1 to 538)
  AUTHORS   Wu JH, Lemaitre RN, Manichaikul A, Guan W, Tanaka T, Foy M,
            Kabagambe EK, Djousse L, Siscovick D, Fretts AM, Johnson C, King
            IB, Psaty BM, McKnight B, Rich SS, Chen YD, Nettleton JA, Tang W,
            Bandinelli S, Jacobs DR Jr, Browning BL, Laurie CC, Gu X, Tsai MY,
            Steffen LM, Ferrucci L, Fornage M and Mozaffarian D.
  TITLE     Genome-wide association study identifies novel loci associated with
            concentrations of four plasma phospholipid fatty acids in the de
            novo lipogenesis pathway: results from the Cohorts for Heart and
            Aging Research in Genomic Epidemiology (CHARGE) consortium
  JOURNAL   Circ Cardiovasc Genet 6 (2), 171-183 (2013)
   PUBMED   23362303
REFERENCE   6  (residues 1 to 538)
  AUTHORS   Gamsjaeger R, Liew CK, Loughlin FE, Crossley M and Mackay JP.
  TITLE     Sticky fingers: zinc-fingers as protein-recognition motifs
  JOURNAL   Trends Biochem Sci 32 (2), 63-70 (2007)
   PUBMED   17210253
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP251717.1, AK299818.1,
            AC074091.6, AK074460.1 and BF593724.1.
            
            Summary: This gene encodes a protein containing four putative zinc
            finger motifs. Zinc finger motifs may bind to proteins or nucleic
            acids. Zinc finger-containing proteins are involved in a variety of
            processes, including regulation of transcription. Alternative
            splicing results in multiple transcript variants for this gene.
            [provided by RefSeq, Sep 2012].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            and lacks an alternate exon in the coding region, but maintains the
            reading frame, compared to variant 1. The encoded isoform (b) is
            shorter than isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK299818.1, SRR1803613.8443.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..538
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     Protein         1..538
                     /product="zinc finger protein 512 isoform b"
                     /calculated_mol_wt=61223
     Region          <378..434
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     CDS             1..538
                     /gene="ZNF512"
                     /coded_by="NM_001271286.2:72..1688"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS59428.1"
                     /db_xref="GeneID:84450"
                     /db_xref="HGNC:HGNC:29380"
ORIGIN      
        1 mssrlgavpa tsgpttfkqq rstrivgakn rtqcsikdns fqytiphdds lsgsssassc
       61 epvsdfpasf rkstywmkmr rikpaatshv egsggvsakg krkprqeede dyrefpqkkh
      121 klygsleeqw yleivdkgsv scptcqavgr ktieglkkhm enckqemftc hhcgkqlrsl
      181 agmkyhvman hnslpilkag deidepsere rlrtvlkrlg klrcmrescs ssftsimgyl
      241 yhvrkcgkga aelekmtlkc hhcgkpyrsk aglayhlrse hgpisffpes gqpeclkemn
      301 lesksggrvq rrsakiavyh lqelasaela kewpkrkvlq dlvpddrklk ytrpglptfs
      361 qevlhkwktd ikkyhriqcp nqgceavyss vsglkahlgs ctlgnfvagk ykcllcqkef
      421 vsesgvkyhi nsvhaedwfv vnptttksfe klmkikqrqq eeekrrqqhr srrslrrrqq
      481 pgielpetel slrvgkdqrr nneelvvsas ckepeqepvp aqfqkvkppk tnhkrgrk
//
LOCUS       NP_001382174             242 aa            linear   PRI 31-DEC-2022
DEFINITION  polycomb group RING finger protein 3 isoform a [Homo sapiens].
ACCESSION   NP_001382174
VERSION     NP_001382174.1
DBSOURCE    REFSEQ: accession NM_001395245.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 242)
  AUTHORS   Hu Y, Cheng Y, Jiang X, Zhang Y, Wang H, Ren H, Xu Y, Jiang J, Wang
            Q, Su H, Zhang B and Qiu X.
  TITLE     PCGF3 promotes the proliferation and migration of non-small cell
            lung cancer cells via the PI3K/AKT signaling pathway
  JOURNAL   Exp Cell Res 400 (2), 112496 (2021)
   PUBMED   33485844
  REMARK    GeneRIF: PCGF3 promotes the proliferation and migration of
            non-small cell lung cancer cells via the PI3K/AKT signaling
            pathway.
REFERENCE   2  (residues 1 to 242)
  AUTHORS   Mu G, Xiang Q, Zhang Z, Liu C, Zhang H, Liu Z, Pang X, Jiang J, Xie
            Q, Zhou S, Wang Z, Hu K, Wang Z, Jiang S, Qin X and Cui Y.
  TITLE     PNPT1 and PCGF3 variants associated with angiotensin-converting
            enzyme inhibitor-induced cough: a nested case-control genome-wide
            study
  JOURNAL   Pharmacogenomics 21 (9), 601-614 (2020)
   PUBMED   32397904
  REMARK    GeneRIF: PNPT1 and PCGF3 variants associated with
            angiotensin-converting enzyme inhibitor-induced cough: a nested
            case-control genome-wide study.
REFERENCE   3  (residues 1 to 242)
  AUTHORS   Purohit,G., Mukherjee,A.K., Sharma,S. and Chowdhury,S.
  TITLE     Extratelomeric Binding of the Telomere Binding Protein TRF2 at the
            PCGF3 Promoter Is G-Quadruplex Motif-Dependent
  JOURNAL   Biochemistry 57 (16), 2317-2324 (2018)
   PUBMED   29589913
  REMARK    GeneRIF: We demonstrate that promoter binding by TRF2 mediates
            PCGF3 promoter activity, and both the N-terminal and C-terminal
            domains of TRF2 are necessary for promoter activity.
REFERENCE   4  (residues 1 to 242)
  AUTHORS   Hauri S, Comoglio F, Seimiya M, Gerstung M, Glatter T, Hansen K,
            Aebersold R, Paro R, Gstaiger M and Beisel C.
  TITLE     A High-Density Map for Navigating the Human Polycomb Complexome
  JOURNAL   Cell Rep 17 (2), 583-595 (2016)
   PUBMED   27705803
REFERENCE   5  (residues 1 to 242)
  AUTHORS   Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB,
            Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G,
            Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J,
            Graslund S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ
            and Greenblatt J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
REFERENCE   6  (residues 1 to 242)
  AUTHORS   Woodsmith J, Jenn RC and Sanderson CM.
  TITLE     Systematic analysis of dimeric E3-RING interactions reveals
            increased combinatorial complexity in human ubiquitination networks
  JOURNAL   Mol Cell Proteomics 11 (7), M111.016162 (2012)
   PUBMED   22493164
REFERENCE   7  (residues 1 to 242)
  AUTHORS   Oudot-Mellakh T, Cohen W, Germain M, Saut N, Kallel C, Zelenika D,
            Lathrop M, Tregouet DA and Morange PE.
  TITLE     Genome wide association study for plasma levels of natural
            anticoagulant inhibitors and protein C anticoagulant pathway: the
            MARTHA project
  JOURNAL   Br J Haematol 157 (2), 230-239 (2012)
   PUBMED   22443383
REFERENCE   8  (residues 1 to 242)
  AUTHORS   Vandamme J, Volkel P, Rosnoblet C, Le Faou P and Angrand PO.
  TITLE     Interaction proteomics analysis of polycomb proteins defines
            distinct PRC1 complexes in mammalian cells
  JOURNAL   Mol Cell Proteomics 10 (4), M110.002642 (2011)
   PUBMED   21282530
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC107464.5 and AC139887.3.
            
            Summary: The protein encoded by this gene contains a C3HC4 type
            RING finger, which is a motif known to be involved in
            protein-protein interactions. The specific function of this protein
            has not yet been determined. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.4330595.1,
                                           SRR14038196.2384451.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144835, SAMEA2151119
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     Protein         1..242
                     /product="polycomb group RING finger protein 3 isoform a"
                     /note="ring finger protein 3; polycomb group RING finger
                     protein 3; RING finger protein 3A"
                     /calculated_mol_wt=27984
     Region          4..69
                     /region_name="RING-HC_PCGF3"
                     /note="RING finger found in polycomb group RING finger
                     protein 3 (PCGF3) and similar proteins; cd16735"
                     /db_xref="CDD:438393"
     Site            order(16,20,22..23,26,28..29,31..35,38..41,43..44)
                     /site_type="other"
                     /note="putative heterodimer interface [polypeptide
                     binding]"
                     /db_xref="CDD:438393"
     Region          115..149
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3KNV8.1)"
     Region          132..242
                     /region_name="Interaction with BCORL1.
                     /evidence=ECO:0000269|PubMed:27568929"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3KNV8.1)"
     Region          154..236
                     /region_name="RAWUL_PCGF3"
                     /note="RING finger- and WD40-associated ubiquitin-like
                     (RAWUL) domain found in polycomb group RING finger protein
                     3 (PCGF3) and similar proteins; cd17083"
                     /db_xref="CDD:340603"
     CDS             1..242
                     /gene="PCGF3"
                     /gene_synonym="DONG1; RNF3; RNF3A"
                     /coded_by="NM_001395245.1:446..1174"
                     /note="isoform a is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS3339.2"
                     /db_xref="GeneID:10336"
                     /db_xref="HGNC:HGNC:10066"
                     /db_xref="MIM:617543"
ORIGIN      
        1 mltrkiklwd inahitcrlc sgylidattv teclhtfcrs clvkyleenn tcptcrivih
       61 qshplqyigh drtmqdivyk lvpglqeaem rkqrefyhkl gmevpgdikg etcsakqhld
      121 shrngetkad dssnkeaaee kpeedndyhr sdeqvsicle cnssklrglk rkwircsaqa
      181 tvlhlkkfia kklnlssfne ldilcneeil gkdhtlkfvv vtrwrfkkap lllhyrpkmd
      241 ll
//
LOCUS       NP_001381179            1239 aa            linear   PRI 31-DEC-2022
DEFINITION  sorbin and SH3 domain-containing protein 2 isoform 13 [Homo
            sapiens].
ACCESSION   NP_001381179
VERSION     NP_001381179.1
DBSOURCE    REFSEQ: accession NM_001394250.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1239)
  AUTHORS   Chen Q, Xu J and Zhu M.
  TITLE     miR-18a-5p Facilitates Malignant Progression of Head and Neck
            Squamous Cell Carcinoma Cells via Modulating SORBS2
  JOURNAL   Comput Math Methods Med 2021, 5953881 (2021)
   PUBMED   34707683
  REMARK    GeneRIF: miR-18a-5p Facilitates Malignant Progression of Head and
            Neck Squamous Cell Carcinoma Cells via Modulating SORBS2.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1239)
  AUTHORS   Liang F, Wang B, Geng J, You G, Fa J, Zhang M, Sun H, Chen H, Fu Q,
            Zhang X and Zhang Z.
  TITLE     SORBS2 is a genetic factor contributing to cardiac malformation of
            4q deletion syndrome patients
  JOURNAL   Elife 10, e67481 (2021)
   PUBMED   34099102
  REMARK    GeneRIF: SORBS2 is a genetic factor contributing to cardiac
            malformation of 4q deletion syndrome patients.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1239)
  AUTHORS   An J, Wang H, Ma X, Hu B, Yan Y, Yan Y and Su Z.
  TITLE     Musk ketone induces apoptosis of gastric cancer cells via
            downregulation of sorbin and SH3 domain containing 2
  JOURNAL   Mol Med Rep 23 (6) (2021)
   PUBMED   33880576
  REMARK    GeneRIF: Musk ketone induces apoptosis of gastric cancer cells via
            downregulation of sorbin and SH3 domain containing 2.
REFERENCE   4  (residues 1 to 1239)
  AUTHORS   Lv Q, Dong F, Zhou Y, Cai Z and Wang G.
  TITLE     RNA-binding protein SORBS2 suppresses clear cell renal cell
            carcinoma metastasis by enhancing MTUS1 mRNA stability
  JOURNAL   Cell Death Dis 11 (12), 1056 (2020)
   PUBMED   33311452
  REMARK    GeneRIF: RNA-binding protein SORBS2 suppresses clear cell renal
            cell carcinoma metastasis by enhancing MTUS1 mRNA stability.
            Erratum:[Cell Death Dis. 2021 Nov 8;12(11):1062. PMID: 34750363]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1239)
  AUTHORS   Nakayama M, Kikuno R and Ohara O.
  TITLE     Protein-protein interactions between large proteins: two-hybrid
            screening using a functionally classified library composed of long
            cDNAs
  JOURNAL   Genome Res 12 (11), 1773-1784 (2002)
   PUBMED   12421765
REFERENCE   6  (residues 1 to 1239)
  AUTHORS   Xu YC, Wu RF, Gu Y, Yang YS, Yang MC, Nwariaku FE and Terada LS.
  TITLE     Involvement of TRAF4 in oxidative activation of c-Jun N-terminal
            kinase
  JOURNAL   J Biol Chem 277 (31), 28051-28057 (2002)
   PUBMED   12023963
REFERENCE   7  (residues 1 to 1239)
  AUTHORS   Kimura A, Baumann CA, Chiang SH and Saltiel AR.
  TITLE     The sorbin homology domain: a motif for the targeting of proteins
            to lipid rafts
  JOURNAL   Proc Natl Acad Sci U S A 98 (16), 9098-9103 (2001)
   PUBMED   11481476
REFERENCE   8  (residues 1 to 1239)
  AUTHORS   Zucconi A, Dente L, Santonico E, Castagnoli L and Cesareni G.
  TITLE     Selection of ligands by panning of domain libraries displayed on
            phage lambda reveals new potential partners of synaptojanin 1
  JOURNAL   J Mol Biol 307 (5), 1329-1339 (2001)
   PUBMED   11292345
REFERENCE   9  (residues 1 to 1239)
  AUTHORS   Kawabe H, Hata Y, Takeuchi M, Ide N, Mizoguchi A and Takai Y.
  TITLE     nArgBP2, a novel neural member of ponsin/ArgBP2/vinexin family that
            interacts with synapse-associated protein 90/postsynaptic
            density-95-associated protein (SAPAP)
  JOURNAL   J Biol Chem 274 (43), 30914-30918 (1999)
   PUBMED   10521485
REFERENCE   10 (residues 1 to 1239)
  AUTHORS   Wang B, Golemis EA and Kruh GD.
  TITLE     ArgBP2, a multiple Src homology 3 domain-containing,
            Arg/Abl-interacting protein, is phosphorylated in v-Abl-transformed
            cells and localized in stress fibers and cardiocyte Z-disks
  JOURNAL   J Biol Chem 272 (28), 17542-17550 (1997)
   PUBMED   9211900
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104805.3, AC108472.5 and
            AC093797.3.
            
            Summary: Arg and c-Abl represent the mammalian members of the
            Abelson family of non-receptor protein-tyrosine kinases. They
            interact with the Arg/Abl binding proteins via the SH3 domains
            present in the carboxy end of the latter group of proteins. This
            gene encodes the sorbin and SH3 domain containing 2 protein. It has
            three C-terminal SH3 domains and an N-terminal sorbin homology
            (SoHo) domain that interacts with lipid raft proteins. The
            subcellular localization of this protein in epithelial and cardiac
            muscle cells suggests that it functions as an adapter protein to
            assemble signaling complexes in stress fibers, and that it is a
            potential link between Abl family kinases and the actin
            cytoskeleton. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1239
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1"
     Protein         1..1239
                     /product="sorbin and SH3 domain-containing protein 2
                     isoform 13"
                     /note="Arg binding protein 2; Arg/Abl-interacting protein
                     2; arg-binding protein 2"
                     /calculated_mol_wt=138404
     Region          156..200
                     /region_name="Sorb"
                     /note="Sorbin homologous domain; pfam02208"
                     /db_xref="CDD:426659"
     Region          1005..1059
                     /region_name="SH3_Sorbs2_1"
                     /note="First Src Homology 3 domain of Sorbin and SH3
                     domain containing 2 (Sorbs2), also called Arg-binding
                     protein 2 (ArgBP2); cd11920"
                     /db_xref="CDD:212853"
     Site            order(1011,1013,1016,1020,1038..1039,1052,1054..1055)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212853"
     Region          1080..1136
                     /region_name="SH3_Sorbs2_2"
                     /note="Second Src Homology 3 domain of Sorbin and SH3
                     domain containing 2 (Sorbs2), also called Arg-binding
                     protein 2 (ArgBP2); cd11923"
                     /db_xref="CDD:212856"
     Site            order(1086,1088,1091,1095,1113..1114,1129,1131..1132)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212856"
     Region          1179..1239
                     /region_name="SH3_Sorbs2_3"
                     /note="Third (or C-terminal) Src Homology 3 domain of
                     Sorbin and SH3 domain containing 2 (Sorbs2), also called
                     Arg-binding protein 2 (ArgBP2); cd11917"
                     /db_xref="CDD:212850"
     Site            order(1189,1191,1194,1198,1216..1217,1232,1234..1235)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212850"
     CDS             1..1239
                     /gene="SORBS2"
                     /gene_synonym="ARGBP2; PRO0618"
                     /coded_by="NM_001394250.1:704..4423"
                     /note="isoform 13 is encoded by transcript variant 15"
                     /db_xref="GeneID:8470"
                     /db_xref="HGNC:HGNC:24098"
                     /db_xref="MIM:616349"
ORIGIN      
        1 msvtltsvkr vqsspnllaa grdsqspdsa wrsyndgnqe tlngdatyss laakgfrsvr
       61 pnlqdkrspt qsqitvngns ggavspmsyy qrpfspsays lpaslnssiv mqhgtsldst
      121 dtypqhaqsl dgttsssipl yrsseeekrv tvikaphypg igpvdesgip tairttvdrp
      181 kdwyktmfkq ihmvhkpddd tdmyntpyty naglynppys aqshpaaktq tyrplskshs
      241 dnspnafkda sspvppphvp ppvpplrprd rsstekhdwd ppdrkvdtrk frseprsife
      301 yepgkssilq herppplptt ptpvprepgr kplsssrlge vtgspspppr sgaptpssra
      361 palsptrasl yqssidrsle rpmssasmas dfrkrrksep avgpprglgd qsasrtspgr
      421 vdlpgssttl tksftsssps spsrakggdd skicpslcsy sglngnpsse ldycstyrqh
      481 ldvprdspra isfkngwqma rqnaeiwsst eetvspkiks rscddllndd cdsfpdpkvk
      541 sesmgsllce edskescpma wgspyvpevr sngrsrirhr sarnapgflk mykkmhrinr
      601 kdlmnsevic svksrilqye seqqhkdllr awsqcsteev prdmvptris efekliqksk
      661 smpnlgddml spvtleppqn glcpkrrfsi eylleeenqs gppargrrgc qsnalvpihi
      721 evtsdeqpra hvefsdsdqd gvvsdhsdyi hlegssfcse sdfdhfsfts sesfygsshh
      781 hhhhhhhhhr hlissckgrc pasytrfttm lkherarhen teeprrqemd pglsklaflv
      841 spvpfrrkkn sapkkqteka kckasvfeal dsalkdicdq ikaekkrgsl pdnsilhrli
      901 sellpdvper nsslralrrs plhqplhplp pdgaihcppy qndcgrmprs asfqdvdtan
      961 sschhqdrgg alqdresprs ysstltdmgr saprerrgtp ekeklpakav ydfkaqtske
     1021 lsfkkgdtvy ilrkidqnwy egehhgrvgi fpisyveklt ppekaqparp pppaqpgeig
     1081 eaiakynfna dtnvelslrk gdrvillkrv dqnwyegkip gtnrqgifpv syvevvkknt
     1141 kgaedypdpp iphsyssdri hslssnkpqr pvftheniqg ggepfqalyn ytprnedele
     1201 lresdvidvm ekcddgwfvg tsrrtkffgt fpgnyvkrl
//
LOCUS       NP_001401636             222 aa            linear   PRI 01-JAN-2023
DEFINITION  transmembrane reductase CYB561D2 isoform 1 [Homo sapiens].
ACCESSION   NP_001401636 XP_047303310
VERSION     NP_001401636.1
DBSOURCE    REFSEQ: accession NM_001414707.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 222)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 222)
  AUTHORS   Asard H, Barbaro R, Trost P and Berczi A.
  TITLE     Cytochromes b561: ascorbate-mediated trans-membrane electron
            transport
  JOURNAL   Antioxid Redox Signal 19 (9), 1026-1035 (2013)
   PUBMED   23249217
  REMARK    Review article
REFERENCE   3  (residues 1 to 222)
  AUTHORS   Recuenco MC, Rahman MM, Sakamoto Y, Takeuchi F, Hori H and Tsubaki
            M.
  TITLE     Functional characterization of the recombinant human tumour
            suppressor 101F6 protein, a cytochrome b(561) homologue
  JOURNAL   J Biochem 153 (2), 233-242 (2013)
   PUBMED   23235316
REFERENCE   4  (residues 1 to 222)
  AUTHORS   Recuenco MC, Fujito M, Rahman MM, Sakamoto Y, Takeuchi F and
            Tsubaki M.
  TITLE     Functional expression and characterization of human 101F6 protein,
            a homologue of cytochrome b561 and a candidate tumor suppressor
            gene product
  JOURNAL   Biofactors 34 (3), 219-230 (2008)
   PUBMED   19734123
  REMARK    GeneRIF: The protein exhibits the characteristics typical of
            members of the cytochrome b561 family, being a hydrophobic,
            transmembrane heme protein. It is capable of oxidation-reduction
            reaction and is a candidate tumor suppressor gene product.
REFERENCE   5  (residues 1 to 222)
  AUTHORS   Lerman MI and Minna JD.
  TITLE     The 630-kb lung cancer homozygous deletion region on human
            chromosome 3p21.3: identification and evaluation of the resident
            candidate tumor suppressor genes. The International Lung Cancer
            Chromosome 3p21.3 Tumor Suppressor Gene Consortium
  JOURNAL   Cancer Res 60 (21), 6116-6133 (2000)
   PUBMED   11085536
REFERENCE   6  (residues 1 to 222)
  AUTHORS   Townsley FM, Aristarkhov A, Beck S, Hershko A and Ruderman JV.
  TITLE     Dominant-negative cyclin-selective ubiquitin carrier protein
            E2-C/UbcH10 blocks cells in metaphase
  JOURNAL   Proc Natl Acad Sci U S A 94 (6), 2362-2367 (1997)
   PUBMED   9122200
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC002481.1.
            On Dec 7, 2022 this sequence version replaced XP_047303310.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2069479.1,
                                           SRR14038194.4113635.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..222
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..222
                     /product="transmembrane reductase CYB561D2 isoform 1"
                     /EC_number="7.2.1.3"
                     /note="cytochrome b561 domain-containing protein 2;
                     putative tumor suppressor protein 101F6; transmembrane
                     ascorbate ferrireductase; transmembrane reductase
                     CYB561D2"
                     /calculated_mol_wt=23843
     Site            18..38
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O14569.1)"
     Region          25..205
                     /region_name="Cyt_b561_CYB561D2_like"
                     /note="Eukaryotic cytochrome b(561), including the
                     CYB561D2 gene product; cd08761"
                     /db_xref="CDD:176491"
     Site            47..67
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O14569.1)"
     Site            order(48,86,120,159)
                     /site_type="other"
                     /note="putative heme binding sites [chemical binding]"
                     /db_xref="CDD:176491"
     Site            86..106
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O14569.1)"
     Site            123..143
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O14569.1)"
     Site            163..183
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O14569.1)"
     Site            187..207
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O14569.1)"
     CDS             1..222
                     /gene="CYB561D2"
                     /gene_synonym="101F6; TSP10; XXcos-LUCA11.4"
                     /coded_by="NM_001414707.1:573..1241"
                     /note="isoform 1 is encoded by transcript variant 5"
                     /db_xref="GeneID:11068"
                     /db_xref="HGNC:HGNC:30253"
                     /db_xref="MIM:607068"
ORIGIN      
        1 malsaetesh iyralrtasg aaahlvalgf tifvavlarp gsslfswhpv lmslafsflm
       61 teallvfspe ssllhslsrk grarchwvlq llallcallg lglvilhkeq lgkahlvtrh
      121 gqagllavlw aglqcsggvg llypkllprw plaklklyha tsglvgyllg saslllgmcs
      181 lwftasvtga awylavlcpv ltslvimnqv snaylyrkri qp
//
LOCUS       NP_004354                702 aa            linear   PRI 01-JAN-2023
DEFINITION  carcinoembryonic antigen-related cell adhesion molecule 5 isoform 1
            preproprotein [Homo sapiens].
ACCESSION   NP_004354
VERSION     NP_004354.3
DBSOURCE    REFSEQ: accession NM_004363.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 702)
  AUTHORS   Shi H, Tsang Y and Yang Y.
  TITLE     Identification of CEACAM5 as a stemness-related inhibitory immune
            checkpoint in pancreatic cancer
  JOURNAL   BMC Cancer 22 (1), 1291 (2022)
   PUBMED   36494785
  REMARK    GeneRIF: Identification of CEACAM5 as a stemness-related inhibitory
            immune checkpoint in pancreatic cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 702)
  AUTHORS   Wang X, Li Y, Pan M, Lu T, Wang M, Wang Z, Liu C and Hu G.
  TITLE     CEACAM5 inhibits the lymphatic metastasis of head and neck squamous
            cell carcinoma by regulating epithelial-mesenchymal transition via
            inhibiting MDM2
  JOURNAL   Clin Sci (Lond) 136 (22), 1691-1710 (2022)
   PUBMED   36377775
  REMARK    GeneRIF: CEACAM5 inhibits the lymphatic metastasis of head and neck
            squamous cell carcinoma by regulating epithelial-mesenchymal
            transition via inhibiting MDM2.
REFERENCE   3  (residues 1 to 702)
  AUTHORS   Rosu MC, Mihnea PD, Ardelean A, Moldovan SD, Popetiu RO and
            Totolici BD.
  TITLE     Clinical significance of tumor necrosis factor-alpha and
            carcinoembryonic antigen in gastric cancer
  JOURNAL   J Med Life 15 (1), 4-6 (2022)
   PUBMED   35186129
  REMARK    GeneRIF: Clinical significance of tumor necrosis factor-alpha and
            carcinoembryonic antigen in gastric cancer.
            Review article
REFERENCE   4  (residues 1 to 702)
  AUTHORS   Kim HS, Han Y, Kang JS, Kang YH, Lee M, Sohn HJ, Kim H, Kwon W and
            Jang JY.
  TITLE     Serum carcinoembryonic antigen and carbohydrate antigen 19-9 as
            preoperative diagnostic biomarkers of extrahepatic bile duct cancer
  JOURNAL   BJS Open 5 (6) (2021)
   PUBMED   34935900
  REMARK    GeneRIF: Serum carcinoembryonic antigen and carbohydrate antigen
            19-9 as preoperative diagnostic biomarkers of extrahepatic bile
            duct cancer.
REFERENCE   5  (residues 1 to 702)
  AUTHORS   Liu C, Yuan X, Liu X, Liang K, Ni Z, Yu G and Zhu L.
  TITLE     Effect of triptolide and chemotherapy on carcinoembryonic and
            carbohydrate antigens levels and first-line treatment of recurrent
            nasopharyngeal carcinoma
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 67 (2), 109-113 (2021)
   PUBMED   34817331
  REMARK    GeneRIF: Effect of triptolide and chemotherapy on carcinoembryonic
            and carbohydrate antigens levels and first-line treatment of
            recurrent nasopharyngeal carcinoma.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 702)
  AUTHORS   Beauchemin N and Arabzadeh A.
  TITLE     Carcinoembryonic antigen-related cell adhesion molecules (CEACAMs)
            in cancer progression and metastasis
  JOURNAL   Cancer Metastasis Rev 32 (3-4), 643-671 (2013)
   PUBMED   23903773
  REMARK    Review article
REFERENCE   7  (residues 1 to 702)
  AUTHORS   Willcocks TC and Craig IW.
  TITLE     Characterization of the genomic organization of human
            carcinoembryonic antigen (CEA): comparison with other family
            members and sequence analysis of 5' controlling region
  JOURNAL   Genomics 8 (3), 492-500 (1990)
   PUBMED   2286372
REFERENCE   8  (residues 1 to 702)
  AUTHORS   Schrewe H, Thompson J, Bona M, Hefta LJ, Maruya A, Hassauer M,
            Shively JE, von Kleist S and Zimmermann W.
  TITLE     Cloning of the complete gene for carcinoembryonic antigen: analysis
            of its promoter indicates a region conveying cell type-specific
            expression
  JOURNAL   Mol Cell Biol 10 (6), 2738-2748 (1990)
   PUBMED   2342461
REFERENCE   9  (residues 1 to 702)
  AUTHORS   Hefta LJ, Schrewe H, Thompson JA, Oikawa S, Nakazato H and Shively
            JE.
  TITLE     Expression of complementary DNA and genomic clones for
            carcinoembryonic antigen and nonspecific cross-reacting antigen in
            Chinese hamster ovary and mouse fibroblast cells and
            characterization of the membrane-expressed products
  JOURNAL   Cancer Res 50 (8), 2397-2403 (1990)
   PUBMED   2317824
REFERENCE   10 (residues 1 to 702)
  AUTHORS   Barnett T and Zimmermann W.
  TITLE     Workshop report: proposed nomenclature for the carcinoembryonic
            antigen (CEA) gene family
  JOURNAL   Tumour Biol 11 (1-2), 59-63 (1990)
   PUBMED   2309067
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB006625.1, M15042.1 and
            AC243967.3.
            On Apr 17, 2014 this sequence version replaced NP_004354.2.
            
            Summary: This gene encodes a cell surface glycoprotein that
            represents the founding member of the carcinoembryonic antigen
            (CEA) family of proteins. The encoded protein is used as a clinical
            biomarker for gastrointestinal cancers and may promote tumor
            development through its role as a cell adhesion molecule.
            Additionally, the encoded protein may regulate differentiation,
            apoptosis, and cell polarity. This gene is present in a CEA family
            gene cluster on chromosome 19. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Jul 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Both variants 1 and
            2 encode the same isoform.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M15042.1, DRR138512.392754.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000221992.11/ ENSP00000221992.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..702
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     Protein         1..702
                     /product="carcinoembryonic antigen-related cell adhesion
                     molecule 5 isoform 1 preproprotein"
                     /note="meconium antigen 100; carcinoembryonic antigen
                     related cell adhesion molecule 5"
                     /calculated_mol_wt=72894
     sig_peptide     1..34
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3920
     mat_peptide     35..685
                     /product="Carcinoembryonic antigen-related cell adhesion
                     molecule 5. /id=PRO_0000014566"
                     /note="propagated from UniProtKB/Swiss-Prot (P06731.4)"
                     /calculated_mol_wt=71329
     Region          36..140
                     /region_name="IgV_CEACAM_D1"
                     /note="First immunoglobulin (Ig)-like domain of
                     carcinoembryonic antigen (CEA) related cell adhesion
                     molecule (CEACAM); cd05774"
                     /db_xref="CDD:409430"
     Region          37..55
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409430"
     Region          37..39
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409430"
     Region          44..46
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409430"
     Region          49..56
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409430"
     Region          56..63
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409430"
     Region          64..69
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409430"
     Region          64..68
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409430"
     Region          70..91
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409430"
     Region          78..83
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409430"
     Region          88..91
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409430"
     Region          98..124
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409430"
     Region          98..103
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409430"
     Site            104
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          105..109
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409430"
     Site            115
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          119..124
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409430"
     Region          125..132
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409430"
     Region          133..140
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409430"
     Region          133..139
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409430"
     Region          146..234
                     /region_name="IgI_hCEACAM_2_4_6_like"
                     /note="Immunoglobulin (Ig)-like domain of human
                     carcinoembryonic antigen (CEA) related cell adhesion
                     molecule (CEACAM) domains 2, 4, and 6, and similar
                     domains; cd05740"
                     /db_xref="CDD:409402"
     Region          146..150
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409402"
     Site            152
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          153..158
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409402"
     Region          163..169
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409402"
     Region          176..181
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409402"
     Site            182
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          183..186
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409402"
     Region          190..194
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409402"
     Region          197..202
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409402"
     Site            197
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Site            204
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Site            208
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          212..220
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409402"
     Region          224..233
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409402"
     Region          243..318
                     /region_name="IgC2_CEACAM5-like"
                     /note="Fifth immunoglobulin (Ig)-like domain of the
                     carcinoembryonic antigen (CEA) related cell adhesion
                     molecule 5 (CEACAM5) and similar domains; member of the
                     C2-set IgSF domains; cd20948"
                     /db_xref="CDD:409540"
     Region          243..249
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409540"
     Site            246
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P06731.4)"
     Region          254..261
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409540"
     Site            256
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          267..273
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409540"
     Site            274
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          276..281
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409540"
     Region          284..290
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409540"
     Site            288
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Site            292
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          293..304
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409540"
     Region          307..318
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409540"
     Site            309
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          324..412
                     /region_name="IgI_hCEACAM_2_4_6_like"
                     /note="Immunoglobulin (Ig)-like domain of human
                     carcinoembryonic antigen (CEA) related cell adhesion
                     molecule (CEACAM) domains 2, 4, and 6, and similar
                     domains; cd05740"
                     /db_xref="CDD:409402"
     Region          324..328
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409402"
     Site            330
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          331..336
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409402"
     Region          341..347
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409402"
     Site            351
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          354..359
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409402"
     Site            360
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          361..364
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409402"
     Region          368..372
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409402"
     Region          375..380
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409402"
     Site            375
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          390..398
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409402"
     Region          402..411
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409402"
     Region          421..496
                     /region_name="IgC2_CEACAM5-like"
                     /note="Fifth immunoglobulin (Ig)-like domain of the
                     carcinoembryonic antigen (CEA) related cell adhesion
                     molecule 5 (CEACAM5) and similar domains; member of the
                     C2-set IgSF domains; cd20948"
                     /db_xref="CDD:409540"
     Region          421..427
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409540"
     Region          432..439
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409540"
     Site            432
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          445..451
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409540"
     Region          454..459
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409540"
     Region          462..468
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409540"
     Site            466
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          471..482
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409540"
     Site            480
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          485..496
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409540"
     Region          502..590
                     /region_name="IgI_hCEACAM_2_4_6_like"
                     /note="Immunoglobulin (Ig)-like domain of human
                     carcinoembryonic antigen (CEA) related cell adhesion
                     molecule (CEACAM) domains 2, 4, and 6, and similar
                     domains; cd05740"
                     /db_xref="CDD:409402"
     Region          502..506
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409402"
     Site            508
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          509..514
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409402"
     Region          519..525
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409402"
     Site            529
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          532..537
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409402"
     Region          539..542
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409402"
     Region          546..550
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409402"
     Region          553..558
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409402"
     Site            553
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Site            560
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498,
                     ECO:0000269|PubMed:16740002; propagated from
                     UniProtKB/Swiss-Prot (P06731.4)"
     Region          568..576
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409402"
     Region          580..589
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409402"
     Site            580
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          599..674
                     /region_name="IgC2_CEACAM5-like"
                     /note="Fifth immunoglobulin (Ig)-like domain of the
                     carcinoembryonic antigen (CEA) related cell adhesion
                     molecule 5 (CEACAM5) and similar domains; member of the
                     C2-set IgSF domains; cd20948"
                     /db_xref="CDD:409540"
     Region          599..605
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409540"
     Region          610..617
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409540"
     Site            612
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          623..629
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409540"
     Region          632..637
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409540"
     Region          640..646
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409540"
     Region          649..660
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409540"
     Site            650
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     Region          663..674
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409540"
     Site            665
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P06731.4)"
     CDS             1..702
                     /gene="CEACAM5"
                     /gene_synonym="CD66e; CEA"
                     /coded_by="NM_004363.6:107..2215"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS12584.1"
                     /db_xref="GeneID:1048"
                     /db_xref="HGNC:HGNC:1817"
                     /db_xref="MIM:114890"
ORIGIN      
        1 mespsapphr wcipwqrlll taslltfwnp pttaklties tpfnvaegke vlllvhnlpq
       61 hlfgyswykg ervdgnrqii gyvigtqqat pgpaysgrei iypnaslliq niiqndtgfy
      121 tlhviksdlv neeatgqfrv ypelpkpsis snnskpvedk davaftcepe tqdatylwwv
      181 nnqslpvspr lqlsngnrtl tlfnvtrndt asykcetqnp vsarrsdsvi lnvlygpdap
      241 tisplntsyr sgenlnlsch aasnppaqys wfvngtfqqs tqelfipnit vnnsgsytcq
      301 ahnsdtglnr ttvttitvya eppkpfitsn nsnpvededa valtcepeiq nttylwwvnn
      361 qslpvsprlq lsndnrtltl lsvtrndvgp yecgiqnels vdhsdpviln vlygpddpti
      421 spsytyyrpg vnlslschaa snppaqyswl idgniqqhtq elfisnitek nsglytcqan
      481 nsasghsrtt vktitvsael pkpsissnns kpvedkdava ftcepeaqnt tylwwvngqs
      541 lpvsprlqls ngnrtltlfn vtrndarayv cgiqnsvsan rsdpvtldvl ygpdtpiisp
      601 pdssylsgan lnlschsasn pspqyswrin gipqqhtqvl fiakitpnnn gtyacfvsnl
      661 atgrnnsivk sitvsasgts pglsagatvg imigvlvgva li
//
LOCUS       NP_001317001             740 aa            linear   PRI 29-JAN-2023
DEFINITION  serine/threonine-protein kinase DCLK1 isoform 5 [Homo sapiens].
ACCESSION   NP_001317001 XP_006719956
VERSION     NP_001317001.1
DBSOURCE    REFSEQ: accession NM_001330072.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 740)
  AUTHORS   Standing D, Arnold L, Dandawate P, Ottemann B, Snyder V,
            Ponnurangam S, Sayed A, Subramaniam D, Srinivasan P, Choudhury S,
            New J, Kwatra D, Ramamoorthy P, Roy BC, Shadoin M, Al-Rajabi R,
            O'Neil M, Gunewardena S, Ashcraft J, Umar S, Weir SJ, Tawfik O,
            Padhye SB, Biersack B, Anant S and Thomas SM.
  TITLE     Doublecortin-like kinase 1 is a therapeutic target in squamous cell
            carcinoma
  JOURNAL   Mol Carcinog 62 (2), 145-159 (2023)
   PUBMED   36218231
  REMARK    GeneRIF: Doublecortin-like kinase 1 is a therapeutic target in
            squamous cell carcinoma.
REFERENCE   2  (residues 1 to 740)
  AUTHORS   Yang L, Zhang Q and Yang Q.
  TITLE     KDM3A promotes oral squamous cell carcinoma cell proliferation and
            invasion via H3K9me2 demethylation-activated DCLK1
  JOURNAL   Genes Genomics 44 (11), 1333-1342 (2022)
   PUBMED   36094735
  REMARK    GeneRIF: KDM3A promotes oral squamous cell carcinoma cell
            proliferation and invasion via H3K9me2 demethylation-activated
            DCLK1.
REFERENCE   3  (residues 1 to 740)
  AUTHORS   Undi RB, Larabee JL, Filiberti A, Ulahannan S, Aravindan S,
            Stroberg E, Barton LM, Duval EJ, Mukhopadhyay S, Henthorn JC, Akins
            D, Houchen CW, Huycke MM and Ali N.
  TITLE     Targeting Doublecortin-Like Kinase 1 (DCLK1)-Regulated SARS-CoV-2
            Pathogenesis in COVID-19
  JOURNAL   J Virol 96 (17), e0096722 (2022)
   PUBMED   35943255
  REMARK    GeneRIF: Targeting Doublecortin-Like Kinase 1 (DCLK1)-Regulated
            SARS-CoV-2 Pathogenesis in COVID-19.
REFERENCE   4  (residues 1 to 740)
  AUTHORS   Kim JH, Park SY, Jeon SE, Choi JH, Lee CJ, Jang TY, Yun HJ, Lee Y,
            Kim P, Cho SH, Lee JS and Nam JS.
  TITLE     DCLK1 promotes colorectal cancer stemness and aggressiveness via
            the XRCC5/COX2 axis
  JOURNAL   Theranostics 12 (12), 5258-5271 (2022)
   PUBMED   35910805
  REMARK    GeneRIF: DCLK1 promotes colorectal cancer stemness and
            aggressiveness via the XRCC5/COX2 axis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 740)
  AUTHORS   Wang L, Zhao L, Lin Z, Yu D, Jin M, Zhou P, Ren J, Cheng J, Yang K,
            Wu G, Zhang T and Zhang D.
  TITLE     Targeting DCLK1 overcomes 5-fluorouracil resistance in colorectal
            cancer through inhibiting CCAR1/beta-catenin pathway-mediated
            cancer stemness
  JOURNAL   Clin Transl Med 12 (5), e743 (2022)
   PUBMED   35522902
  REMARK    GeneRIF: Targeting DCLK1 overcomes 5-fluorouracil resistance in
            colorectal cancer through inhibiting CCAR1/beta-catenin
            pathway-mediated cancer stemness.
REFERENCE   6  (residues 1 to 740)
  AUTHORS   Lin PT, Gleeson JG, Corbo JC, Flanagan L and Walsh CA.
  TITLE     DCAMKL1 encodes a protein kinase with homology to doublecortin that
            regulates microtubule polymerization
  JOURNAL   J Neurosci 20 (24), 9152-9161 (2000)
   PUBMED   11124993
REFERENCE   7  (residues 1 to 740)
  AUTHORS   Matsumoto N, Pilz DT and Ledbetter DH.
  TITLE     Genomic structure, chromosomal mapping, and expression pattern of
            human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS)
  JOURNAL   Genomics 56 (2), 179-183 (1999)
   PUBMED   10051403
REFERENCE   8  (residues 1 to 740)
  AUTHORS   Sossey-Alaoui K and Srivastava AK.
  TITLE     DCAMKL1, a brain-specific transmembrane protein on 13q12.3 that is
            similar to doublecortin (DCX)
  JOURNAL   Genomics 56 (1), 121-126 (1999)
   PUBMED   10036192
REFERENCE   9  (residues 1 to 740)
  AUTHORS   Omori Y, Suzuki M, Ozaki K, Harada Y, Nakamura Y, Takahashi E and
            Fujiwara T.
  TITLE     Expression and chromosomal localization of KIAA0369, a putative
            kinase structurally related to Doublecortin
  JOURNAL   J Hum Genet 43 (3), 169-177 (1998)
   PUBMED   9747029
REFERENCE   10 (residues 1 to 740)
  AUTHORS   Nedivi E, Hevroni D, Naot D, Israeli D and Citri Y.
  TITLE     Numerous candidate plasticity-related genes revealed by
            differential cDNA cloning
  JOURNAL   Nature 363 (6431), 718-722 (1993)
   PUBMED   8515813
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA154341.1, BC152456.1,
            AK295777.1, DC350316.1, AL157760.9, AL139083.15 and BM679448.1.
            On Aug 16, 2016 this sequence version replaced XP_006719956.1.
            
            Summary: This gene encodes a member of the protein kinase
            superfamily and the doublecortin family. The protein encoded by
            this gene contains two N-terminal doublecortin domains, which bind
            microtubules and regulate microtubule polymerization, a C-terminal
            serine/threonine protein kinase domain, which shows substantial
            homology to Ca2+/calmodulin-dependent protein kinase, and a
            serine/proline-rich domain in between the doublecortin and the
            protein kinase domains, which mediates multiple protein-protein
            interactions. The microtubule-polymerizing activity of the encoded
            protein is independent of its protein kinase activity. The encoded
            protein is involved in several different cellular processes,
            including neuronal migration, retrograde transport, neuronal
            apoptosis and neurogenesis. This gene is up-regulated by
            brain-derived neurotrophic factor and associated with memory and
            general cognitive abilities. Multiple transcript variants generated
            by two alternative promoter usage and alternative splicing have
            been reported, but the full-length nature and biological validity
            of some variants have not been defined. These variants encode
            different isoforms, which are differentially expressed and have
            different kinase activities.[provided by RefSeq, Sep 2010].
            
            Transcript Variant: This variant (6) differs in the 5' UTR and
            lacks an alternate exon in the 3' coding region, resulting in a
            frameshift compared to variant 1. Both variants 5 and 6 encode the
            same isoform (5), which is longer and has a distinct C-terminus
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.95372.1,
                                           SRR14372079.1508494.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..740
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.3"
     Protein         1..740
                     /product="serine/threonine-protein kinase DCLK1 isoform 5"
                     /EC_number="2.7.11.1"
                     /note="serine/threonine-protein kinase DCLK1;
                     doublecortin-like and CAM kinase-like 1; doublecortin
                     domain-containing protein 3A"
                     /calculated_mol_wt=82093
     Site            32
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            36
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            46
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Region          55..143
                     /region_name="DCX1_DCLK1"
                     /note="Dublecortin-like domain 1 found in
                     doublecortin-like kinase 1 (DCLK1); cd17140"
                     /db_xref="CDD:340660"
     Site            order(55,66..68,74,79..80,82,90,98..100,102..103,106,133)
                     /site_type="other"
                     /note="putative tubulin binding site [polypeptide
                     binding]"
                     /db_xref="CDD:340660"
     Site            order(70,115)
                     /site_type="other"
                     /note="key conserved lysines"
                     /db_xref="CDD:340660"
     Region          182..265
                     /region_name="DCX2"
                     /note="Dublecortin-like domain 2; cd17069"
                     /db_xref="CDD:340589"
     Site            order(184,195..197,203,208..209,211,219,228..229,232,259)
                     /site_type="other"
                     /note="putative DCX-stabilized microtubules [polypeptide
                     binding]"
                     /db_xref="CDD:340589"
     Site            order(199,240)
                     /site_type="other"
                     /note="key conserved lysines"
                     /db_xref="CDD:340589"
     Region          287..378
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15075.2)"
     Site            305
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            307
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            330
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            332
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            334
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            337
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            347
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            352
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            353
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O08875; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            355
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            364
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            376
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Region          383..650
                     /region_name="STKc_DCKL1"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Doublecortin-like kinase 1 (also called Doublecortin-like
                     and CAM kinase-like 1); cd14183"
                     /db_xref="CDD:271085"
     Site            order(396..400,404,417,419,449,465..468,472,474,510..511,
                     513,515..516,518,532..533,536,548..552,554)
                     /site_type="active"
                     /db_xref="CDD:271085"
     Site            order(396..399,404,417,419,449,465..468,472,515..516,518,
                     532..533)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271085"
     Site            order(400,472,474,510..511,513,515,536,548..552,554)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271085"
     Site            520
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            532..552
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271085"
     Region          697..740
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15075.2)"
     Site            726
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            735
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     Site            738
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLM8; propagated from
                     UniProtKB/Swiss-Prot (O15075.2)"
     CDS             1..740
                     /gene="DCLK1"
                     /gene_synonym="CL1; CLICK1; DCAMKL1; DCDC3A; DCLK"
                     /coded_by="NM_001330072.2:190..2412"
                     /note="isoform 5 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS81762.1"
                     /db_xref="GeneID:9201"
                     /db_xref="HGNC:HGNC:2700"
                     /db_xref="MIM:604742"
ORIGIN      
        1 msfgrdmele hfderdkaqr ysrgsrvngl pspthsahcs fyrtrtlqtl ssekkakkvr
       61 fyrngdryfk givyaispdr frsfeallad ltrtlsdnvn lpqgvrtiyt idglkkissl
      121 dqlvegesyv cgsiepfkkl eytknvnpnw svnvkttsas ravsslatak gspsevrenk
      181 dfirpklvti irsgvkprka vrillnkkta hsfeqvltdi tdaikldsgv vkrlytldgk
      241 qvmclqdffg dddifiacgp ekfryqddfl ldesecrvvk stsytkiass srrsttkspg
      301 psrrskspas tssvngtpgs qlstprsgks pspsptspgs lrkqrssqhg gsstslastk
      361 vcssmdendg pgeevseegf qipatitery kvgrtigdgn favvkecver stareyalki
      421 ikkskcrgke hmiqnevsil rrvkhpnivl lieemdvpte lylvmelvkg gdlfdaitst
      481 nkyterdasg mlynlasaik ylhslnivhr dikpenllvy ehqdgskslk lgdfglativ
      541 dgplytvcgt ptyvapeiia etgyglkvdi waagvityil lcgfppfrgs gddqevlfdq
      601 ilmgqvdfps pywdnvsdsa kelitmmllv dvdqrfsavq vlehpwvndd glpenehqls
      661 vagkikkhfn tgpkpnstaa gvsviattal dkerqvfrrr rnqdvrsryk aqpappelns
      721 esedyspsss etvrspnspf
//
LOCUS       NP_001287827             131 aa            linear   PRI 14-MAR-2023
DEFINITION  sodium channel and clathrin linker 1 isoform 3 [Homo sapiens].
ACCESSION   NP_001287827
VERSION     NP_001287827.1
DBSOURCE    REFSEQ: accession NM_001300898.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 131)
  AUTHORS   Morisada N, Hamada R, Miura K, Ye MJ, Nozu K, Hattori M and Iijima
            K.
  TITLE     Bardet-Biedl syndrome in two unrelated patients with identical
            compound heterozygous SCLT1 mutations
  JOURNAL   CEN Case Rep 9 (3), 260-265 (2020)
   PUBMED   32253632
  REMARK    GeneRIF: Bardet-Biedl syndrome in two unrelated patients with
            identical compound heterozygous SCLT1 mutations.
REFERENCE   2  (residues 1 to 131)
  AUTHORS   Almli LM, Lori A, Meyers JL, Shin J, Fani N, Maihofer AX,
            Nievergelt CM, Smith AK, Mercer KB, Kerley K, Leveille JM, Feng H,
            Abu-Amara D, Flory JD, Yehuda R, Marmar CR, Baker DG, Bradley B,
            Koenen KC, Conneely KN and Ressler KJ.
  TITLE     Problematic alcohol use associates with sodium channel and clathrin
            linker 1 (SCLT1) in trauma-exposed populations
  JOURNAL   Addict Biol 23 (5), 1145-1159 (2018)
   PUBMED   29082582
  REMARK    GeneRIF: Study results indicate a genome-wide significant
            association between total alcohol use disorders identification test
            score in a trauma-exposed cohort and rs1433375, an intergenic
            single-nucleotide polymorphism located 323 kb upstream of the
            sodium channel and clathrin linker 1 at 4q28.
REFERENCE   3  (residues 1 to 131)
  AUTHORS   Cho MH, McDonald ML, Zhou X, Mattheisen M, Castaldi PJ, Hersh CP,
            Demeo DL, Sylvia JS, Ziniti J, Laird NM, Lange C, Litonjua AA,
            Sparrow D, Casaburi R, Barr RG, Regan EA, Make BJ, Hokanson JE,
            Lutz S, Dudenkov TM, Farzadegan H, Hetmanski JB, Tal-Singer R,
            Lomas DA, Bakke P, Gulsvik A, Crapo JD, Silverman EK and Beaty TH.
  CONSRTM   NETT Genetics, ICGN, ECLIPSE and COPDGene Investigators
  TITLE     Risk loci for chronic obstructive pulmonary disease: a genome-wide
            association study and meta-analysis
  JOURNAL   Lancet Respir Med 2 (3), 214-225 (2014)
   PUBMED   24621683
REFERENCE   4  (residues 1 to 131)
  AUTHORS   Adly N, Alhashem A, Ammari A and Alkuraya FS.
  TITLE     Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients
            with OFD type IX
  JOURNAL   Hum Mutat 35 (1), 36-40 (2014)
   PUBMED   24285566
  REMARK    GeneRIF: study identified 2 cases with a severe ciliopathy
            phenotype consistent with oro-facio-digital syndrome type IX; the
            autozygome of each index harbored a single truncating variant and
            the affected genes (SCLT1 and TBC1D32/C6orf170) have roles in
            centrosomal biology and ciliogenesis; findings suggest a role of
            SCLT1 and TBC1D32 in ciliopathy pathogenesis
REFERENCE   5  (residues 1 to 131)
  AUTHORS   Lasho T, Johnson SH, Smith DI, Crispino JD, Pardanani A, Vasmatzis
            G and Tefferi A.
  TITLE     Identification of submicroscopic genetic changes and precise
            breakpoint mapping in myelofibrosis using high resolution mate-pair
            sequencing
  JOURNAL   Am J Hematol 88 (9), 741-746 (2013)
   PUBMED   23733509
REFERENCE   6  (residues 1 to 131)
  AUTHORS   Tanos BE, Yang HJ, Soni R, Wang WJ, Macaluso FP, Asara JM and Tsou
            MF.
  TITLE     Centriole distal appendages promote membrane docking, leading to
            cilia initiation
  JOURNAL   Genes Dev 27 (2), 163-168 (2013)
   PUBMED   23348840
REFERENCE   7  (residues 1 to 131)
  AUTHORS   Liu C, Cummins TR, Tyrrell L, Black JA, Waxman SG and Dib-Hajj SD.
  TITLE     CAP-1A is a novel linker that binds clathrin and the voltage-gated
            sodium channel Na(v)1.8
  JOURNAL   Mol Cell Neurosci 28 (4), 636-649 (2005)
   PUBMED   15797711
  REMARK    GeneRIF: Functional study in rat suggests that CAP-1A links
            clathrin and a sodium channel.
REFERENCE   8  (residues 1 to 131)
  AUTHORS   Tomarev SI, Wistow G, Raymond V, Dubois S and Malyukova I.
  TITLE     Gene expression profile of the human trabecular meshwork: NEIBank
            sequence tag analysis
  JOURNAL   Invest Ophthalmol Vis Sci 44 (6), 2588-2596 (2003)
   PUBMED   12766061
REFERENCE   9  (residues 1 to 131)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N,
            Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar
            M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   10 (residues 1 to 131)
  AUTHORS   Forsyth,R. and Gunay-Aygun,M.
  TITLE     Bardet-Biedl Syndrome Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301537
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK055217.1, BC040258.1 and
            AC093826.2.
            
            Summary: This gene encodes an adaptor protein. Studies of a related
            gene in rat suggest that the encoded protein functions to link
            clathrin to the sodium channel protein type 10 subunit alpha
            protein. The encoded protein has also been identified as a
            component of distal appendages of centrioles that is necessary for
            ciliogenesis. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (3) lacks several exons and uses
            an alternate 3'-terminal exon, compared to variant 1. The encoded
            isoform (3) has a shorter and distinct C-terminus, compared to
            isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC040258.1, SRR11853560.22380.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..131
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q28.2"
     Protein         1..131
                     /product="sodium channel and clathrin linker 1 isoform 3"
                     /note="sodium channel-associated protein 1"
                     /calculated_mol_wt=15028
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q96NL6.2)"
     CDS             1..131
                     /gene="SCLT1"
                     /gene_synonym="CAP-1A; CAP1A"
                     /coded_by="NM_001300898.2:437..832"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS77957.1"
                     /db_xref="GeneID:132320"
                     /db_xref="HGNC:HGNC:26406"
                     /db_xref="MIM:611399"
ORIGIN      
        1 maaeidflre qnrrlnedfr ryqmesfsky ssvqkavcqg egddtfenlv fdqsflaplv
       61 teydkhlgel ngqlkyyqkq vgemklqlen vikenervll clpgwsavvr srltassasr
      121 iraillpqpp q
//
LOCUS       NP_001264994             906 aa            linear   PRI 15-MAR-2023
DEFINITION  metabotropic glutamate receptor 1 isoform beta precursor [Homo
            sapiens].
ACCESSION   NP_001264994
VERSION     NP_001264994.1
DBSOURCE    REFSEQ: accession NM_001278065.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 906)
  AUTHORS   Protasova MS, Andreeva TV, Klyushnikov SA, Illarioshkin SN and
            Rogaev EI.
  TITLE     Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with
            No Obvious Intellectual Disability
  JOURNAL   Int J Mol Sci 24 (2), 1551 (2023)
   PUBMED   36675067
  REMARK    GeneRIF: Genetic Variant in GRM1 Underlies Congenital Cerebellar
            Ataxia with No Obvious Intellectual Disability.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 906)
  AUTHORS   Yousaf H, Fatima A, Ali Z, Baig SM, Toft M and Iqbal Z.
  TITLE     A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive
            Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family
  JOURNAL   Genes (Basel) 13 (9), 1667 (2022)
   PUBMED   36140834
  REMARK    GeneRIF: A Novel Nonsense Variant in GRM1 Causes Autosomal
            Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani
            Family.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 906)
  AUTHORS   Wu QW and Kapfhammer JP.
  TITLE     The Emerging Key Role of the mGluR1-PKCgamma Signaling Pathway in
            the Pathogenesis of Spinocerebellar Ataxias: A Neurodevelopmental
            Viewpoint
  JOURNAL   Int J Mol Sci 23 (16), 9169 (2022)
   PUBMED   36012439
  REMARK    GeneRIF: The Emerging Key Role of the mGluR1-PKCgamma Signaling
            Pathway in the Pathogenesis of Spinocerebellar Ataxias: A
            Neurodevelopmental Viewpoint.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 906)
  AUTHORS   Ishibashi K, Miura Y, Wagatsuma K, Kameyama M and Ishii K.
  TITLE     Brain 11 C-ITMM PET to longitudinally assess type 1 metabotropic
            glutamate receptor availability in Alzheimer's disease
  JOURNAL   J Neuroimaging 31 (5), 864-868 (2021)
   PUBMED   34143915
  REMARK    GeneRIF: Brain (11) C-ITMM PET to longitudinally assess type 1
            metabotropic glutamate receptor availability in Alzheimer's
            disease.
REFERENCE   5  (residues 1 to 906)
  AUTHORS   Hermans E and Challiss RA.
  TITLE     Structural, signalling and regulatory properties of the group I
            metabotropic glutamate receptors: prototypic family C
            G-protein-coupled receptors
  JOURNAL   Biochem J 359 (Pt 3), 465-484 (2001)
   PUBMED   11672421
  REMARK    Review article
REFERENCE   6  (residues 1 to 906)
  AUTHORS   Brakeman PR, Lanahan AA, O'Brien R, Roche K, Barnes CA, Huganir RL
            and Worley PF.
  TITLE     Homer: a protein that selectively binds metabotropic glutamate
            receptors
  JOURNAL   Nature 386 (6622), 284-288 (1997)
   PUBMED   9069287
REFERENCE   7  (residues 1 to 906)
  AUTHORS   Laurie DJ, Boddeke HW, Hiltscher R and Sommer B.
  TITLE     HmGlu1d, a novel splice variant of the human type I metabotropic
            glutamate receptor
  JOURNAL   Eur J Pharmacol 296 (2), R1-R3 (1996)
   PUBMED   8838462
  REMARK    Erratum:[Eur J Pharmacol. 1996 Apr 29;302(1-3):229. PMID: 8791012]
REFERENCE   8  (residues 1 to 906)
  AUTHORS   Stephan D, Bon C, Holzwarth JA, Galvan M and Pruss RM.
  TITLE     Human metabotropic glutamate receptor 1: mRNA distribution,
            chromosome localization and functional expression of two splice
            variants
  JOURNAL   Neuropharmacology 35 (12), 1649-1660 (1996)
   PUBMED   9076744
REFERENCE   9  (residues 1 to 906)
  AUTHORS   Desai MA, Burnett JP, Mayne NG and Schoepp DD.
  TITLE     Cloning and expression of a human metabotropic glutamate receptor 1
            alpha: enhanced coupling on co-transfection with a glutamate
            transporter
  JOURNAL   Mol Pharmacol 48 (4), 648-657 (1995)
   PUBMED   7476890
REFERENCE   10 (residues 1 to 906)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL096867.15, L76631.1,
            AB208837.1, L76627.1 and AL035698.12.
            
            Summary: This gene encodes a metabotropic glutamate receptor that
            functions by activating phospholipase C. L-glutamate is the major
            excitatory neurotransmitter in the central nervous system and
            activates both ionotropic and metabotropic glutamate receptors.
            Glutamatergic neurotransmission is involved in most aspects of
            normal brain function and can be perturbed in many neuropathologic
            conditions. The canonical alpha isoform of the encoded protein is a
            disulfide-linked homodimer whose activity is mediated by a
            G-protein-coupled phosphatidylinositol-calcium second messenger
            system. This gene may be associated with many disease states,
            including schizophrenia, bipolar disorder, depression, and breast
            cancer. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, May
            2013].
            
            Transcript Variant: This variant (4) contains an alternate exon in
            the 3' coding region, compared to variant 3. The encoded isoform
            (beta) is shorter and contains a distinct C-terminus, compared to
            isoform alpha. Isoform beta has a different subcellular
            distribution than isoform alpha and may be functionally distinct
            due to differential G-protein coupling of its novel C-terminal
            sequence (PMID: 9076744). Variants 4 and 5 encode the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: L76631.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMN03465402
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..906
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.3"
     Protein         1..906
                     /product="metabotropic glutamate receptor 1 isoform beta
                     precursor"
                     /note="protein phosphatase 1, regulatory subunit 85;
                     glutamate receptor, metabotropic 1"
                     /calculated_mol_wt=99285
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2057
     mat_peptide     19..906
                     /product="metabotropic glutamate receptor 1 isoform beta"
                     /calculated_mol_wt=99285
     Region          36..510
                     /region_name="PBP1_mGluR_groupI"
                     /note="ligand binding domain of the group I metabotropic
                     glutamate receptor; cd06374"
                     /db_xref="CDD:380597"
     Site            order(74,165,186..188,236,318,409)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:380597"
     Site            98
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13255.3)"
     Site            order(113,116..117,120,124,173..174,176..178,199,242,245,
                     260)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:380597"
     Site            223
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|Ref.7; propagated from
                     UniProtKB/Swiss-Prot (Q13255.3)"
     Site            397
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13255.3)"
     Site            515
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13255.3)"
     Region          521..571
                     /region_name="NCD3G"
                     /note="Nine Cysteines Domain of family 3 GPCR; pfam07562"
                     /db_xref="CDD:429539"
     Region          591..840
                     /region_name="7tmC_mGluR1"
                     /note="metabotropic glutamate receptor 1 in group 1,
                     member of the class C family of seven-transmembrane G
                     protein-coupled receptors; cd15449"
                     /db_xref="CDD:320565"
     Region          591..616
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320565"
     Site            593..615
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13255.3)"
     Site            order(594,597..598,601..602,604..605,639,643,646..647,655,
                     659)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:320565"
     Region          628..649
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320565"
     Site            630..650
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13255.3)"
     Site            order(648,660..661,664..665,668,748,753,756..757,760,794,
                     797..798,801,805,811..812,815,818,822)
                     /site_type="other"
                     /note="allosteric modulator binding site [chemical
                     binding]"
                     /db_xref="CDD:320565"
     Region          658..682
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320565"
     Site            659..680
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13255.3)"
     Site            704..727
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13255.3)"
     Region          706..726
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320565"
     Region          749..775
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320565"
     Site            751..772
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13255.3)"
     Region          783..806
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320565"
     Site            786..807
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13255.3)"
     Region          809..834
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320565"
     Site            816..840
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13255.3)"
     Site            853
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97772; propagated from
                     UniProtKB/Swiss-Prot (Q13255.3)"
     Site            871
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P97772; propagated from
                     UniProtKB/Swiss-Prot (Q13255.3)"
     CDS             1..906
                     /gene="GRM1"
                     /gene_synonym="GPRC1A; MGLU1; MGLUR1; PPP1R85; SCA44;
                     SCAR13"
                     /coded_by="NM_001278065.2:443..3163"
                     /note="isoform beta precursor is encoded by transcript
                     variant 4"
                     /db_xref="CCDS:CCDS47497.1"
                     /db_xref="GeneID:2911"
                     /db_xref="HGNC:HGNC:4593"
                     /db_xref="MIM:604473"
ORIGIN      
        1 mvglllfffp aiflevsllp rspgrkvlla gassqrsvar mdgdviigal fsvhhqppae
       61 kvperkcgei reqygiqrve amfhtldkin adpvllpnit lgseirdscw hssvaleqsi
      121 efirdslisi rdekdginrc lpdgqslppg rtkkpiagvi gpgsssvaiq vqnllqlfdi
      181 pqiaysatsi dlsdktlyky flrvvpsdtl qaramldivk rynwtyvsav htegnygesg
      241 mdafkelaaq eglciahsdk iysnageksf drllrklrer lpkarvvvcf cegmtvrgll
      301 samrrlgvvg efsligsdgw adrdeviegy eveanggiti klqspevrsf ddyflklrld
      361 tntrnpwfpe fwqhrfqcrl pghllenpnf krictgnesl eenyvqdskm gfvinaiyam
      421 ahglqnmhha lcpghvglcd amkpidgskl ldflikssfi gvsgeevwfd ekgdapgryd
      481 imnlqytean rydyvhvgtw hegvlniddy kiqmnksgvv rsvcsepclk gqikvirkge
      541 vsccwictac keneyvqdef tckacdlgww pnadltgcep ipvrylewsn iesiiaiafs
      601 clgilvtlfv tlifvlyrdt pvvksssrel cyiilagifl gyvcpftlia kptttscylq
      661 rllvglssam cysalvtktn riarilagsk kkictrkprf msawaqviia silisvqltl
      721 vvtliimepp mpilsypsik evylicntsn lgvvaplgyn gllimsctyy afktrnvpan
      781 fneakyiaft myttciiwla fvpiyfgsny kiittcfavs lsvtvalgcm ftpkmyiiia
      841 kpernvrsaf ttsdvvrmhv gdgklpcrsn tflnifrrkk agagnakkrq pefsptsqcp
      901 sahvql
//
LOCUS       NP_001310297             331 aa            linear   PRI 19-MAR-2023
DEFINITION  type 2 lactosamine alpha-2,3-sialyltransferase isoform 1 [Homo
            sapiens].
ACCESSION   NP_001310297 XP_005247127
VERSION     NP_001310297.1
DBSOURCE    REFSEQ: accession NM_001323368.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 331)
  AUTHORS   Shen Y, Feng Y, Li F, Jia Y, Peng Y, Zhao W, Hu J and He A.
  TITLE     lncRNA ST3GAL6-AS1 promotes invasion by inhibiting
            hnRNPA2B1-mediated ST3GAL6 expression in multiple myeloma
  JOURNAL   Int J Oncol 58 (4) (2021)
   PUBMED   33649796
  REMARK    GeneRIF: lncRNA ST3GAL6AS1 promotes invasion by inhibiting
            hnRNPA2B1mediated ST3GAL6 expression in multiple myeloma.
REFERENCE   2  (residues 1 to 331)
  AUTHORS   Qi F, Isaji T, Duan C, Yang J, Wang Y, Fukuda T and Gu J.
  TITLE     ST3GAL3, ST3GAL4, and ST3GAL6 differ in their regulation of
            biological functions via the specificities for the
            alpha2,3-sialylation of target proteins
  JOURNAL   FASEB J 34 (1), 881-897 (2020)
   PUBMED   31914669
  REMARK    GeneRIF: a cross-restoration of each of the three genes in ST3GAL6
            KO cells showed that overexpression of ST3GAL6 sufficiently rescued
            the total alpha2,3-sialylation levels, cell morphology, and
            alpha2,3-sialylation of EGFR, whereas the alpha2,3-sialylation
            levels of beta1 were greatly enhanced by an overexpression of
            ST3GAL4
REFERENCE   3  (residues 1 to 331)
  AUTHORS   Glavey SV, Manier S, Natoni A, Sacco A, Moschetta M, Reagan MR,
            Murillo LS, Sahin I, Wu P, Mishima Y, Zhang Y, Zhang W, Zhang Y,
            Morgan G, Joshi L, Roccaro AM, Ghobrial IM and O'Dwyer ME.
  TITLE     The sialyltransferase ST3GAL6 influences homing and survival in
            multiple myeloma
  JOURNAL   Blood 124 (11), 1765-1776 (2014)
   PUBMED   25061176
  REMARK    GeneRIF: The sialyltransferase ST3GAL6 influences homing and
            survival in multiple myeloma.
REFERENCE   4  (residues 1 to 331)
  AUTHORS   Yang WH, Nussbaum C, Grewal PK, Marth JD and Sperandio M.
  TITLE     Coordinated roles of ST3Gal-VI and ST3Gal-IV sialyltransferases in
            the synthesis of selectin ligands
  JOURNAL   Blood 120 (5), 1015-1026 (2012)
   PUBMED   22700726
REFERENCE   5  (residues 1 to 331)
  AUTHORS   Verbeek EC, Bakker IM, Bevova MR, Bochdanovits Z, Rizzu P,
            Sondervan D, Willemsen G, de Geus EJ, Smit JH, Penninx BW, Boomsma
            DI, Hoogendijk WJ and Heutink P.
  TITLE     A fine-mapping study of 7 top scoring genes from a GWAS for major
            depressive disorder
  JOURNAL   PLoS One 7 (5), e37384 (2012)
   PUBMED   22649524
REFERENCE   6  (residues 1 to 331)
  AUTHORS   Kawamura YI, Toyota M, Kawashima R, Hagiwara T, Suzuki H, Imai K,
            Shinomura Y, Tokino T, Kannagi R and Dohi T.
  TITLE     DNA hypermethylation contributes to incomplete synthesis of
            carbohydrate determinants in gastrointestinal cancer
  JOURNAL   Gastroenterology 135 (1), 142-151 (2008)
   PUBMED   18485915
  REMARK    GeneRIF: Epigenetic changes in a group of glycosyltransferases
            including B4GALNT2 and ST3GAL6 represent a malignant phenotype of
            gastric cancer caused by silencing of the activity of these enzymes
REFERENCE   7  (residues 1 to 331)
  AUTHORS   Groux-Degroote S, Krzewinski-Recchi MA, Cazet A, Vincent A, Lehoux
            S, Lafitte JJ, Van Seuningen I and Delannoy P.
  TITLE     IL-6 and IL-8 increase the expression of glycosyltransferases and
            sulfotransferases involved in the biosynthesis of sialylated and/or
            sulfated Lewisx epitopes in the human bronchial mucosa
  JOURNAL   Biochem J 410 (1), 213-223 (2008)
   PUBMED   17944600
REFERENCE   8  (residues 1 to 331)
  AUTHORS   Hemmoranta H, Satomaa T, Blomqvist M, Heiskanen A, Aitio O,
            Saarinen J, Natunen J, Partanen J, Laine J and Jaatinen T.
  TITLE     N-glycan structures and associated gene expression reflect the
            characteristic N-glycosylation pattern of human hematopoietic stem
            and progenitor cells
  JOURNAL   Exp Hematol 35 (8), 1279-1292 (2007)
   PUBMED   17662891
REFERENCE   9  (residues 1 to 331)
  AUTHORS   Taniguchi A, Kaneta R, Morishita K and Matsumoto K.
  TITLE     Gene structure and transcriptional regulation of human Gal
            beta1,4(3) GlcNAc alpha2,3-sialyltransferase VI (hST3Gal VI) gene
            in prostate cancer cell line
  JOURNAL   Biochem Biophys Res Commun 287 (5), 1148-1156 (2001)
   PUBMED   11587543
REFERENCE   10 (residues 1 to 331)
  AUTHORS   Okajima T, Fukumoto S, Miyazaki H, Ishida H, Kiso M, Furukawa K,
            Urano T and Furukawa K.
  TITLE     Molecular cloning of a novel alpha2,3-sialyltransferase (ST3Gal VI)
            that sialylates type II lactosamine structures on glycoproteins and
            glycolipids
  JOURNAL   J Biol Chem 274 (17), 11479-11486 (1999)
   PUBMED   10206952
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC106728.6.
            On Apr 20, 2016 this sequence version replaced XP_005247127.1.
            
            Summary: The protein encoded by this gene is a member of the
            sialyltransferase family. Members of this family are enzymes that
            transfer sialic acid from the activated cytidine
            5'-monophospho-N-acetylneuraminic acid to terminal positions on
            sialylated glycolipids (gangliosides) or to the N- or O-linked
            sugar chains of glycoproteins. This protein has high specificity
            for neolactotetraosylceramide and neolactohexaosylceramide as
            glycolipid substrates and may contribute to the formation of
            selectin ligands and sialyl Lewis X, a carbohydrate important for
            cell-to-cell recognition and a blood group antigen. [provided by
            RefSeq, Apr 2016].
            
            Transcript Variant: Variants 1, 4, 7, 8 and 9 encode the same
            isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1688333.1,
                                           SRR14038194.3920513.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000483910.6/ ENSP00000417376.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q12.1"
     Protein         1..331
                     /product="type 2 lactosamine alpha-2,3-sialyltransferase
                     isoform 1"
                     /EC_number="2.4.99.-"
                     /note="sialyltransferase 10 (alpha-2,3-sialyltransferase
                     VI); type 2 lactosamine alpha-2,3-sialyltransferase;
                     CMP-NeuAc:beta-galactoside alpha-2,3-sialyltransferase VI;
                     alpha2,3-sialyltransferase ST3Gal VI"
                     /calculated_mol_wt=38083
     Site            5..25
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y274.1)"
     Region          63..324
                     /region_name="Glyco_transf_29"
                     /note="Glycosyltransferase family 29 (sialyltransferase);
                     pfam00777"
                     /db_xref="CDD:425864"
     Site            129
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y274.1)"
     Site            181
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y274.1)"
     Site            282
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y274.1)"
     Site            295
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y274.1)"
     Site            308
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q9Y274.1)"
     Site            327
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y274.1)"
     CDS             1..331
                     /gene="ST3GAL6"
                     /gene_synonym="SIAT10; ST3GALVI"
                     /coded_by="NM_001323368.2:112..1107"
                     /note="isoform 1 is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS2933.1"
                     /db_xref="GeneID:10402"
                     /db_xref="HGNC:HGNC:18080"
                     /db_xref="MIM:607156"
ORIGIN      
        1 mrgylvaifl savflyyvlh cilwgtnvyw vapvemkrrn kiqpclskpa fasllrfhqf
       61 hpflcaadfr kiaslygsdk fdlpygmrts aeyfrlalsk lqscdlfdef dnipckkcvv
      121 vgnggvlknk tlgekidsyd viirmnngpv lgheeevgrr ttfrlfypes vfsdpihndp
      181 nttviltafk phdlrwllel lmgdkintng fwkkpalnli ykpyqirild pfiirtaaye
      241 llhfpkvfpk nqkpkhpttg iiaitlafyi chevhlagfk ynfsdlkspl hyygnatmsl
      301 mnknayhnvt aeqlflkdii eknlvinltq d
//
LOCUS       XP_005273056             323 aa            linear   PRI 20-MAR-2023
DEFINITION  3'(2'),5'-bisphosphate nucleotidase 1 isoform X1 [Homo sapiens].
ACCESSION   XP_005273056
VERSION     XP_005273056.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005272999.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..323
                     /product="3'(2'),5'-bisphosphate nucleotidase 1 isoform
                     X1"
                     /calculated_mol_wt=35137
     Region          11..312
                     /region_name="IPPase"
                     /note="Inositol polyphosphate-1-phosphatase, a member of
                     the Mg++ dependent family of inositol monophosphatase-like
                     domains, hydrolyzes the 1' position phosphate from
                     inositol 1,3,4-trisphosphate and inositol
                     1,4-bisphosphate. Members in this group may also...;
                     cd01640"
                     /db_xref="CDD:238818"
     Site            order(51,74..75,117..122,124,210,233..236,239,251,253,
                     257..258,261..262)
                     /site_type="active"
                     /db_xref="CDD:238818"
     CDS             1..323
                     /gene="BPNT1"
                     /gene_synonym="HEL20; PIP"
                     /coded_by="XM_005272999.6:154..1125"
                     /db_xref="GeneID:10380"
                     /db_xref="HGNC:HGNC:1096"
                     /db_xref="MIM:604053"
ORIGIN      
        1 massntvlmr lvasaysiaq kagmivrrvi aegdlgivek tcatdlqtka drlaqmsics
       61 slarkfpklt iigeedlpse evdqelieds qweeilkqpc psqysaikee dlvvwvdpld
      121 gtkeytegll dnvtvligia yegkaiagvi nqpyynyenn ekqqlrehrn eakagpdavl
      181 grtiwgvlgl gafgfqlkev pagkhiittt rshsnklvtd cvaamnpdav lrvggagnki
      241 iqliegkasa yvfaspgckk wdtcapevil havggkltdi hgnvlqyhkd vkhmnsagvl
      301 atlrnydyya srvpesikna lvp
//
LOCUS       XP_005270499             574 aa            linear   PRI 20-MAR-2023
DEFINITION  choline transporter-like protein 3 isoform X6 [Homo sapiens].
ACCESSION   XP_005270499
VERSION     XP_005270499.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005270442.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..574
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..574
                     /product="choline transporter-like protein 3 isoform X6"
                     /calculated_mol_wt=64711
     Region          289..543
                     /region_name="Choline_transpo"
                     /note="Plasma-membrane choline transporter; pfam04515"
                     /db_xref="CDD:427989"
     CDS             1..574
                     /gene="SLC44A3"
                     /gene_synonym="CTL3"
                     /coded_by="XM_005270442.3:96..1820"
                     /db_xref="GeneID:126969"
                     /db_xref="HGNC:HGNC:28689"
ORIGIN      
        1 mhclgaeylv saegaprqre wrpqiyrkct dtawlflffl fwtglvfimg ysvvagaagr
       61 llfgydsfgn mcgkknspve gaplsgqdmt lkkhvffmns cnlevkgtql nrmalcvsnc
      121 peeqldslee vqffantsgs flcvyslnsf nythspkads lcprlpvpps ksfplfnrcv
      181 pqtpecyslf asvlindvdt lhrilsgims grdtilglci lalalslamm ftfrfittll
      241 vhifislvil gllfvcgvlw wlyydytndl sieldteren mkcvlgfaiv stgitavllv
      301 lifvlrkrik ltvelfqitn kaissapfll fqplwtfail iffwvlwvav llslgtagaa
      361 qvmeggqvey kplsgirymw syhligliwt sefilacqqm tiagavvtcy fnrskndppd
      421 hpilsslsil ffyhqgtvvk gsflisvvri priivmymqn alkeqqhgal srylfrccyc
      481 cfwcldkyll hlnqnayttt aingtdfcts akdafkilsk nsshftsinc fgdfiiflgk
      541 sfvkrsnkln naraqqdkhs lrneegtelq aivr
//
LOCUS       XP_047275635             386 aa            linear   PRI 20-MAR-2023
DEFINITION  potassium voltage-gated channel subfamily C member 4 isoform X3
            [Homo sapiens].
ACCESSION   XP_047275635
VERSION     XP_047275635.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419679.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..386
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..386
                     /product="potassium voltage-gated channel subfamily C
                     member 4 isoform X3"
                     /calculated_mol_wt=41398
     Region          1..29
                     /region_name="Potassium_chann"
                     /note="Potassium voltage-gated channel; pfam11404"
                     /db_xref="CDD:431870"
     Region          35..158
                     /region_name="BTB_KCNC2_4"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in potassium
                     voltage-gated channel subfamily C members KCNC2 and KCNC4;
                     cd18415"
                     /db_xref="CDD:349722"
     Site            order(41,43..50,53,95,97..98,101,104,108,111,114,116,
                     124..125,128)
                     /site_type="other"
                     /note="putative tetramer interface [polypeptide binding]"
                     /db_xref="CDD:349722"
     CDS             1..386
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /coded_by="XM_047419679.1:1187..2347"
                     /db_xref="GeneID:3749"
                     /db_xref="HGNC:HGNC:6236"
                     /db_xref="MIM:176265"
ORIGIN      
        1 missvcvssy rgrksgnkpp sktclkeema kgeasekiii nvggtrhety rstlrtlpgt
       61 rlawladpdg ggrpetdggg vgssgssggg gcefffdrhp gvfayvlnyy rtgklhcpad
      121 vcgplfeeel tfwgidetdv epccwmtyrq hrdaeealdi fespdgggsg agpsdeagdd
      181 erelalqrlg pheggaghga gsggcrgwqp rmwalfedpy ssraartlsr mamptqcclm
      241 rrelaspnpw ppprpprsag pcdapplete trrqlpascs algtmpapmv vsgklsvllr
      301 khcaptevtc ehhsalqacg qrledggisl qasvgkwggv sqgrstffeg llwtrgwpll
      361 gfavpdigfi smlvvvqvqe pltysh
//
LOCUS       XP_016856800             508 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Mdm4 isoform X1 [Homo sapiens].
ACCESSION   XP_016856800
VERSION     XP_016856800.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001311.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..508
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..508
                     /product="protein Mdm4 isoform X1"
                     /calculated_mol_wt=56776
     Region          47..125
                     /region_name="MDM4"
                     /note="p53-binding domain found in MDM4 and similar
                     proteins; cd17673"
                     /db_xref="CDD:349492"
     Site            order(71,74..75,78..79,84,89..90,92,110,113,116..117)
                     /site_type="other"
                     /note="p53 binding site [polypeptide binding]"
                     /db_xref="CDD:349492"
     Region          318..347
                     /region_name="zf-RanBP"
                     /note="Zn-finger in Ran binding protein and others;
                     pfam00641"
                     /db_xref="CDD:395516"
     Region          450..508
                     /region_name="mRING-HC-C2H2C4_MDM4"
                     /note="Modified RING finger, HC subclass (C2H2C4-type),
                     found in protein MDM4 and similar proteins; cd16784"
                     /db_xref="CDD:319698"
     Site            order(466,468,470..476,494,501,503..504)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:319698"
     CDS             1..508
                     /gene="MDM4"
                     /gene_synonym="BMFS6; HDMX; MDMX; MRP1"
                     /coded_by="XM_017001311.2:112..1638"
                     /db_xref="GeneID:4194"
                     /db_xref="HGNC:HGNC:6974"
                     /db_xref="MIM:602704"
ORIGIN      
        1 mqnlskvlpt dcsffttkmt sfstsaqcst sdsacrispg qinqvrpklp llkilhaaga
       61 qgemftvkev mhylgqyimv kqlydqqeqh mvycggdllg ellgrqsfsv kdpsplydml
      121 rknlvtlata ttdaaqtlal aqdhsmdips qdqlkqsaee sstsrkrtte ddiptlptse
      181 hkcihsrede dlienlaqde tsrldlgfee wdvaglpwwf lgnlrsnytp rsngstdlqt
      241 nqdvgtaivs dttddlwfln esvseqlgvg ikveaadteq tseevgkvsd kkvievgknd
      301 dledskslsd dtdvevtsed ewqcteckkf nspskrycfr cwalrkdwys dcsklthsls
      361 tsditaipek enegndvpdc rrtisapvvr pkdayikken sklfdpcnsv efldlahsse
      421 sqetissmge qldnlseqrt dtenmedcqn llkpcslcek rprdgniihg rtghlvtcfh
      481 carrlkkaga scpickkeiq lvikvfia
//
LOCUS       XP_047277753             371 aa            linear   PRI 20-MAR-2023
DEFINITION  RRP15-like protein isoform X1 [Homo sapiens].
ACCESSION   XP_047277753
VERSION     XP_047277753.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421797.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..371
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..371
                     /product="RRP15-like protein isoform X1"
                     /calculated_mol_wt=40804
     Region          105..218
                     /region_name="Rrp15p"
                     /note="pfam07890"
                     /db_xref="CDD:429720"
     CDS             1..371
                     /gene="RRP15"
                     /gene_synonym="CGI-115; KIAA0507"
                     /coded_by="XM_047421797.1:25..1140"
                     /db_xref="GeneID:51018"
                     /db_xref="HGNC:HGNC:24255"
                     /db_xref="MIM:611193"
ORIGIN      
        1 maaaapdsrv seeenlkktp kkkmkmvtga vasvledeat dtsdsegsig scgsekdhfy
       61 sdddaieads egdaepcdke nendgessvg tnmgwadama kvlnkktpes kptilvknkk
      121 lekekeklkq erlekikqrd krlewemmcr vkpdvvqdke ternlqriat rgvvqlfnav
      181 qkhqknvdek vkeagssmrk raklistvsk kdfisvlrgm dgstnetass rkkpkakqdp
      241 wvslhqlets vtsgafacfa rsyglvlptq pgslrsarat sldpmpakse gcmsesgvlp
      301 lntarhascg rvhssrqwhg rrllarlqld qvyckqlpwp tpgnvvafwk lgdasncral
      361 krchspgsgs s
//
LOCUS       XP_016857325             447 aa            linear   PRI 20-MAR-2023
DEFINITION  presenilin-2 isoform X2 [Homo sapiens].
ACCESSION   XP_016857325
VERSION     XP_016857325.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001836.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..447
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..447
                     /product="presenilin-2 isoform X2"
                     /calculated_mol_wt=49880
     Region          82..437
                     /region_name="Presenilin"
                     /note="pfam01080"
                     /db_xref="CDD:426034"
     CDS             1..447
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /coded_by="XM_017001836.2:241..1584"
                     /db_xref="GeneID:5664"
                     /db_xref="HGNC:HGNC:9509"
                     /db_xref="MIM:600759"
ORIGIN      
        1 mltfmasdse eevcdertsl msaesptprs cqegrqgped gentaqwrsq eneedgeedp
       61 dryvcsgvpg rppgleeelt lkygakhvim lfvpvtlcmi vvvatiksvr fytekngqli
      121 ytpftedtps vgqrllnsvl ntlimisviv vmtiflvvly kyrcykfihg wlimsslmll
      181 flftyiylge vlktynvamd yptllltvwn fgavgmvcih wkgplvlqqa ylimisalma
      241 lvfikylpew sawvilgais vydlvavlcp kgplrmlvet aqernepifp aliyssamvw
      301 tvgmakldps sqgalqlpyd pemedsydsf gepsypevfe ppltgypgee leeeeergvk
      361 lglgdfifys vlvgkaaatg sgdwnttlac fvailiglcl tllllavfkk alpalpisit
      421 fglifyfstd nlvrpfmdtl ashqlyi
//
LOCUS       XP_047285028            1306 aa            linear   PRI 20-MAR-2023
DEFINITION  probable methyltransferase TARBP1 isoform X7 [Homo sapiens].
ACCESSION   XP_047285028
VERSION     XP_047285028.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429072.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1306
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1306
                     /product="probable methyltransferase TARBP1 isoform X7"
                     /calculated_mol_wt=145628
     CDS             1..1306
                     /gene="TARBP1"
                     /gene_synonym="TRM3; TRMT3; TRP-185; TRP185"
                     /coded_by="XM_047429072.1:77..3997"
                     /db_xref="GeneID:6894"
                     /db_xref="HGNC:HGNC:11568"
                     /db_xref="MIM:605052"
ORIGIN      
        1 mewvlaeall sqsrdprall galcqgeasa ervetlrfll qrledeearg sggagalpea
       61 arevaagylv pllrslrgrp aggpdpslqp rhrrrvlraa gaalrscvrl agrpqlaaal
      121 aeealrdlla gwrapgaeaa vevlaavgpc lrpredgpll ervagtaval alggggdgde
      181 agpaedaaal vagrllpvlv qcggaalrav wgglaapgas lgsgrveekl lvlsalaekl
      241 lpepggdrar gareagpdar rcwrfwrtvq aglgqadalt rkraryllqr avevsaelga
      301 dctcgpqegn gpslfwwser kkdellkfwe nyilimetle gnqihvikpv lpklnnlfey
      361 avseengcwl fhpswhmciy krmfesenki lskegvihfl elyetkilpf spefsefiig
      421 plmdalsess lysrspgqpi gscsplglkl qkflvtyisl lpeeikssfl lkfirkmtsr
      481 hwcavpilfl skalanvprh kalgidglla lrdvihctmi thqillrgaa qcyllqtamn
      541 lldvekvsls dvstflmslr qeeslgrgts lwtelcdwlr vnesyfkpsp tcssiglhkt
      601 slnayvksiv qeyvkssawe tgencfmpdw feaklvslmv llavdvegmk tqysgkqrte
      661 nvlrifldpl ldvlmkfstn aympllktdr clqlllklln tcrlkgssaq ddevstvlqn
      721 ffmsttesis efilrrltmn elnsvsdldr chlylmvlte linlhlkvgw krgnpiwrvi
      781 sllknasiqh lqemdsgqep tvgsqiqrvv smaalamvce aidqkpelql dslhagples
      841 flsslqlnqt lqkphaeeqs syahplecss vleessssqg wgkivaqyih dqwvclsfll
      901 kkyhtliptt gseilepflp avqmpirtlq salealtvls sdqvlpvfhc lkvlvpkllt
      961 sseslciesf dmawkiissl sntqlifwan lkafvqfvfd nkvltiaaki kgqayfkike
     1021 imykiiemsa iktgvfntli syccqswivs asnvsqgsls saknyselil eacifgtvfr
     1081 rdqstkredh yvricavkfl clldgsnmsh klfiedlaik lldkdelvsk skkryyvnsl
     1141 qhrvknrvwq tllvlfprld qnflngiidr ifqagftnnq asikyfiewi iililhkfpq
     1201 flpkfwdcfs ygeenlktsi ctflavlshl diitqnipek cvsarwqcvt vpgklvhifr
     1261 kikkalasdk ikcclsvlnm crkeiclqsi ekakteqtls ccgvde
//
LOCUS       XP_011518367             452 aa            linear   PRI 20-MAR-2023
DEFINITION  integrin-linked protein kinase isoform X1 [Homo sapiens].
ACCESSION   XP_011518367
VERSION     XP_011518367.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011520065.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..452
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..452
                     /product="integrin-linked protein kinase isoform X1"
                     /calculated_mol_wt=51288
     CDS             1..452
                     /gene="ILK"
                     /gene_synonym="HEL-S-28; ILK-1; ILK-2; P59; p59ILK"
                     /coded_by="XM_011520065.2:197..1555"
                     /db_xref="GeneID:3611"
                     /db_xref="HGNC:HGNC:6040"
                     /db_xref="MIM:602366"
ORIGIN      
        1 mddiftqcre gnavavrlwl dntendlnqg ddhgfsplhw acregrsavv emlimrgari
       61 nvmnrgddtp lhlaashghr divqkllqyk adinavnehg nvplhyacfw gqdqvaedlv
      121 angalvsicn kygempvdka kaplrellre raekmgqnln ripykdtfwk gttrtrprng
      181 tlnkhsgidf kqlnfltkln enhsgelwkg rwqgndivvk vlkvrdwstr ksrdfneecp
      241 rlrifshpnv lpvlgacqsp paphptlith wmpygslynv lhegtnfvvd qsqavkfald
      301 margmaflht lepliprhal nsrsvmided mtarismadv kfsfqcpgrm yapawvapea
      361 lqkkpedtnr rsadmwsfav llwelvtrev pfadlsnmei gmkvaleglr ptippgisph
      421 vcklmkicmn edpakrpkfd mivpilekmq dk
//
LOCUS       XP_016873699             254 aa            linear   PRI 20-MAR-2023
DEFINITION  troponin T, fast skeletal muscle isoform X8 [Homo sapiens].
ACCESSION   XP_016873699
VERSION     XP_016873699.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017018210.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..254
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..254
                     /product="troponin T, fast skeletal muscle isoform X8"
                     /calculated_mol_wt=30067
     Region          58..193
                     /region_name="Troponin"
                     /note="pfam00992"
                     /db_xref="CDD:425977"
     CDS             1..254
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /coded_by="XM_017018210.2:19..783"
                     /db_xref="GeneID:7140"
                     /db_xref="HGNC:HGNC:11950"
                     /db_xref="MIM:600692"
ORIGIN      
        1 msdeeveqve eqyeeeeeaq eevhepeevq eeekprpklt apkipegekv dfddiqkkrq
       61 nkdlmelqal idshfearkk eeeelvalke riekrraera eqqriraeke rerqnrlaee
      121 karreeedak rraeddlkkk kalssmgany ssylakadqk rgkkqtarem kkkilaerrk
      181 plnidhlged klrdkakelw etlhqleidk fefgeklkrq kydittlrsr idqaqkhskk
      241 agtpakgkvg grwk
//
LOCUS       XP_005253241             326 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 5 isoform X2 [Homo sapiens].
ACCESSION   XP_005253241
VERSION     XP_005253241.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005253184.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..326
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..326
                     /product="tripartite motif-containing protein 5 isoform
                     X2"
                     /calculated_mol_wt=37554
     Region          7..78
                     /region_name="RING-HC_TRIM5-like_C-IV"
                     /note="RING finger, HC subclass, found in tripartite
                     motif-containing proteins TRIM5, TRIM6, TRIM22, TRIM34 and
                     similar proteins; cd16591"
                     /db_xref="CDD:438253"
     Site            order(15,18,30,32,35,38,55,57..58)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:438253"
     Site            order(16..17,19..20,56..57,59)
                     /site_type="other"
                     /note="E2 binding site [polypeptide binding]"
                     /db_xref="CDD:438253"
     Region          93..132
                     /region_name="Bbox2_TRIM5-like"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing proteins, TRIM5, TRIM6, TRIM22, TRIM34,
                     TRIM38 and similar proteins; cd19761"
                     /db_xref="CDD:380819"
     Region          <130..175
                     /region_name="TMF_TATA_bd"
                     /note="TATA element modulatory factor 1 TATA binding;
                     pfam12325"
                     /db_xref="CDD:432481"
     Region          <142..>255
                     /region_name="ClyA-like"
                     /note="family of the cytolysin A (ClyA) family alpha
                     pore-forming toxins (alpha-PFT) including Bacillus cereus
                     HblB, Aeromonas hydrophila AhlB, Bacillus thuringiensis
                     Cry6Aa and similar proteins; cl45899"
                     /db_xref="CDD:459244"
     CDS             1..326
                     /gene="TRIM5"
                     /gene_synonym="RNF88; TRIM5alpha"
                     /coded_by="XM_005253184.4:269..1249"
                     /db_xref="GeneID:85363"
                     /db_xref="HGNC:HGNC:16276"
                     /db_xref="MIM:608487"
ORIGIN      
        1 masgilvnvk eevtcpicle lltqplsldc ghsfcqaclt anhkksmldk gesscpvcri
       61 syqpenirpn rhvanivekl revklspegq kvdhcarhge klllfcqedg kvicwlcers
      121 qehrghhtfl teevareyqv klqaalemlr qkqqeaeele adireekasw ktqiqydktn
      181 vladfeqlrd ildweesnel qnlekeeedi lksltnsete mvqqtqslre lisdlehrlq
      241 gsvmellqgv dgvikrtenv tlkkpetfpk nqrrvfrapd lkgmlevfre ltdvrrywgw
      301 samarsrfta tstsqiqail lpqppk
//
LOCUS       XP_005253891             268 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein regulatory complex protein 10 isoform X6 [Homo sapiens].
ACCESSION   XP_005253891
VERSION     XP_005253891.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005253834.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..268
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..268
                     /product="dynein regulatory complex protein 10 isoform X6"
                     /calculated_mol_wt=31216
     Region          <56..>215
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          <194..>241
                     /region_name="Adgb_C_mid-like"
                     /note="C-terminal middle region of Androglobins (Adgbs)
                     and related proteins; including permuted globin domain and
                     IQ motif; cd22307"
                     /db_xref="CDD:412094"
     Region          224..241
                     /region_name="IQ motif"
                     /note="IQ motif [structural motif]"
                     /db_xref="CDD:412094"
     CDS             1..268
                     /gene="IQCD"
                     /gene_synonym="4933433C09Rik; CFAP84; DRC10"
                     /coded_by="XM_005253834.5:192..998"
                     /db_xref="GeneID:115811"
                     /db_xref="HGNC:HGNC:25168"
ORIGIN      
        1 maldilamap lyqapainri gpktdpskrp adplkplvls rtklttieak rimsildeai
       61 ykvekenfvi qelknhlhqv lkfsenslvr tkqeaekqqk adfrasqarv akiqqeilql
      121 qsqfynlvme nreaeqalrk kkykveteie nwiqkydtem gekqeeledl davhreekis
      181 leelrrrhkv lvgefaqire ereinskkrm eaeqemvrmv raatliqalw kgylvrsllr
      241 skkkrgkgka kdkekgkqkg kekgkgkk
//
LOCUS       XP_047284521            1116 aa            linear   PRI 20-MAR-2023
DEFINITION  ELKS/Rab6-interacting/CAST family member 1 isoform X8 [Homo
            sapiens].
ACCESSION   XP_047284521
VERSION     XP_047284521.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428565.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1116
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1116
                     /product="ELKS/Rab6-interacting/CAST family member 1
                     isoform X8"
                     /calculated_mol_wt=127956
     Region          154..982
                     /region_name="Cast"
                     /note="RIM-binding protein of the cytomatrix active zone;
                     pfam10174"
                     /db_xref="CDD:431111"
     Region          1068..1108
                     /region_name="RBD-FIP"
                     /note="FIP domain; pfam09457"
                     /db_xref="CDD:401421"
     CDS             1..1116
                     /gene="ERC1"
                     /gene_synonym="Cast2; ELKS; ERC-1; RAB6IP2"
                     /coded_by="XM_047428565.1:241..3591"
                     /db_xref="GeneID:23085"
                     /db_xref="HGNC:HGNC:17072"
                     /db_xref="MIM:607127"
ORIGIN      
        1 mygsarsvgk vepssqspgr sprlprsprl ghrrtnstgg ssgssvgggs gktlsmeniq
       61 slnaayatsg pmylsdhenv gsetpkstmt lgrsggrlpy gvrmtamgss pniassgvas
      121 dtiafgehhl ppvsmastvp hslrqardnt imdlqtqlke vlrendllrk dvevkeskls
      181 ssmnsiktfw spelkkeral rkdeaskiti wkeqyrvvqe enqhmqmtiq alqdelriqr
      241 dlnqlfqqds ssrtgepcva elteenfqrl haeherqake lfllrktlee melrietqkq
      301 tlnardesik kllemlqskg lsakateedh ertrrlaeae mhvhhlesll eqkekensml
      361 reemhrrfen apdsaktkal qtviemkdsk issmerglrd leeeiqmlks ngalsteere
      421 eemkqmevyr shskfmknkv eqlkeelssk eaqweelkkk aaglqaeigq vkqelsrkdt
      481 ellalqtkle tltnqfsdsk qhievlkesl takeqraail qtevdalrlr leeketmlnk
      541 ktkqiqdmae ekgtqageih dlkdmldvke rkvnvlqkki enlqeqlrdk ekqmsslker
      601 vkslqadttn tdtalttlee alaekertie rlkeqrdrde rekqeeidny kkdlkdlkek
      661 vsllqgdlse keaslldlke hasslassgl kkdsrlktle ialeqkkeec lkmesqlkka
      721 heaalearas pemsdriqhl ereitrykde sskaqaevdr lleilkeven ekndkdkkia
      781 elerqvkdqn kkvanlkhke qvekkksaqm leearrredn lndssqqlqd slrkkddrie
      841 eleealresv qitaeremvl aqeesartna ekqveellma mekvkqeles mkaklsstqq
      901 slaekethlt nlraerrkhl eevlemkqea llaaisekda niallelsss kkktqeevaa
      961 lkrekdrlvq qlkqqtqnrm klmadnyedd hfksshsnqt nhkpspdqii qplleldqnr
     1021 sklklyighl ttlchdrdpl ilrgltppas ynldddqaaw enelqkmtrg qlqdelekge
     1081 rdnaelqefa nailqqiadh cpdileqvvn aleess
//
LOCUS       XP_047287310             749 aa            linear   PRI 20-MAR-2023
DEFINITION  protein jagged-2 isoform X3 [Homo sapiens].
ACCESSION   XP_047287310
VERSION     XP_047287310.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431354.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 12% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..749
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..749
                     /product="protein jagged-2 isoform X3"
                     /calculated_mol_wt=79389
     Region          28..103
                     /region_name="MNNL"
                     /note="N-terminus of Notch ligand; pfam07657"
                     /db_xref="CDD:429578"
     Region          178..240
                     /region_name="DSL"
                     /note="Delta serrate ligand; pfam01414"
                     /db_xref="CDD:426252"
     Region          307..345
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(307,310,325)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          351..381
                     /region_name="EGF"
                     /note="EGF-like domain; pfam00008"
                     /db_xref="CDD:394967"
     Region          385..421
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(385,388,402)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          423..458
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(423,426,440)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          461..496
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(461,464,477)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          500..534
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Region          536..571
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(536,539,553)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          636..671
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(636,639,653)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     CDS             1..749
                     /gene="JAG2"
                     /gene_synonym="HJ2; LGMDR27; SER2"
                     /coded_by="XM_047431354.1:357..2606"
                     /db_xref="GeneID:3714"
                     /db_xref="HGNC:HGNC:6189"
                     /db_xref="MIM:602570"
ORIGIN      
        1 mraqgrgrlp rrlllllalw vqaarpmgyf elqlsalrnv ngellsgacc dgdgrttrag
       61 gcghdecdty vrvclkeyqa kvtptgpcsy ghgatpvlgg nsfylppaga agdrararar
      121 aggdqdpglv vipfqfawpr sftliveawd wdndttpnee lliervshag minpedrwks
      181 lhfsghvahl elqirvrcde nyysatcnkf crprndffgh ytcdqygnka cmdgwmgkec
      241 keavckqgcn llhggctvpg ecrcsygwqg rfcdecvpyp gcvhgscvep wqcncetnwg
      301 gllcdkdlny cgshhpctng gtcinaepdq yrctcpdgys grncekaeha ctsnpcangg
      361 schevpsgfe chcpsgwsgp tcaldideca snpcaaggtc vdqvdgfeci cpeqwvgatc
      421 qldanecegk pclnafsckn liggyycdci pgwkginchi nvndcrgqcq hggtckdlvn
      481 gyqcvcprgf ggrhcelerd ecasspchsg glcedladgf hchcpqgfsg plcevdvdlc
      541 epspcrngar cynlegdyyc acpddfggkn csvprepcpg gacrvidgcg sdagpgmpgt
      601 aasgvcgphg rcvsqpggnf scicdsgftg tycheniddc lgqpcrnggt cidevdafrc
      661 fcpsgwegel cdttaaaatt wsmtstvrat tagrarpath asssamptpa atvapattaa
      721 tpsaapappa graapapspr taaacptpv
//
LOCUS       XP_047287733             281 aa            linear   PRI 20-MAR-2023
DEFINITION  L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X4 [Homo
            sapiens].
ACCESSION   XP_047287733
VERSION     XP_047287733.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431777.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..281
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..281
                     /product="L-2-hydroxyglutarate dehydrogenase,
                     mitochondrial isoform X4"
                     /calculated_mol_wt=30852
     Region          <2..275
                     /region_name="PRK11728"
                     /note="L-2-hydroxyglutarate oxidase"
                     /db_xref="CDD:183292"
     CDS             1..281
                     /gene="L2HGDH"
                     /gene_synonym="C14orf160; L2HGA"
                     /coded_by="XM_047431777.1:64..909"
                     /db_xref="GeneID:79944"
                     /db_xref="HGNC:HGNC:20499"
                     /db_xref="MIM:609584"
ORIGIN      
        1 maidcphtgi vdyrqvalsf aqdfqeaggs vltnfevkgi emakespsrs idgmqypivi
       61 kntkgeeirc qyvvtcagly sdriselsgc tpdprivpfr gdylllkpek cylvkgniyp
      121 vpdsrfpflg vhftprmdgs iwlgpnavla fkregyrpfd fsatdvmdii insgliklas
      181 qnfsygvtem ykacflgatv kylqkfipei tisdilrgpa gvraqaldrd gnlvedfvfd
      241 agvgdignri lhvrnapspa atssiaisgm iadevqqrfe l
//
LOCUS       XP_047288633            1173 aa            linear   PRI 20-MAR-2023
DEFINITION  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2
            isoform X13 [Homo sapiens].
ACCESSION   XP_047288633
VERSION     XP_047288633.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432677.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1173
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1173
                     /product="1-phosphatidylinositol 4,5-bisphosphate
                     phosphodiesterase beta-2 isoform X13"
                     /calculated_mol_wt=132719
     Region          12..141
                     /region_name="PH_14"
                     /note="PH domain; pfam17787"
                     /db_xref="CDD:407659"
     Region          149..299
                     /region_name="EFh_PI-PLCbeta2"
                     /note="EF-hand motif found in phosphoinositide
                     phospholipase C beta 2 (PI-PLC-beta2); cd16209"
                     /db_xref="CDD:320039"
     Region          149..178
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320039"
     Region          182..211
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320039"
     Region          220..249
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320039"
     Region          266..299
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320039"
     Region          311..645
                     /region_name="PI-PLCc_beta2"
                     /note="Catalytic domain of metazoan
                     phosphoinositide-specific phospholipase C-beta2; cd08624"
                     /db_xref="CDD:176561"
     Site            order(327..328,357,359,374,408,461,463,571,598,600)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:176561"
     Site            order(327,374)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:176561"
     Site            order(328,357,359,408)
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:176561"
     Region          677..798
                     /region_name="C2_PLC_like"
                     /note="C2 domain present in Phosphoinositide-specific
                     phospholipases C (PLC); cd00275"
                     /db_xref="CDD:175974"
     Site            order(696,721,753,757,759)
                     /site_type="other"
                     /note="Ca2+ binding pocket [ion binding]"
                     /db_xref="CDD:175974"
     Region          959..1141
                     /region_name="PLC-beta_C"
                     /note="PLC-beta C terminal; pfam08703"
                     /db_xref="CDD:430164"
     CDS             1..1173
                     /gene="PLCB2"
                     /gene_synonym="PLC-beta-2"
                     /coded_by="XM_047432677.1:264..3785"
                     /db_xref="GeneID:5330"
                     /db_xref="HGNC:HGNC:9055"
                     /db_xref="MIM:604114"
ORIGIN      
        1 msllnpvllp pkvkaylsqg erfikwddet tvaspvilrv dpkgyylywt yqskemefld
       61 itsirdtrfg kfakmpksqk lrdvfnmdfp dnsfllktlt vvsgpdmvdl tfhnfvsyke
      121 nvgkawaedv lalvkhplta nasrstfldk ilvklkmqln segkipvknf fqmfpadrkr
      181 veaalsachl pkgkndainp edfpepvyks flmslcprpe ideiftsyha kakpymtkeh
      241 ltkfinqkqr dsrlnsllfp parpdqvqgl idkyepsgin aqrgqlspeg mvwflcgpen
      301 svlaqdklll hhdmtqplnh yfinsshnty ltagqfsgls saemyrqvll sgcrcveldc
      361 wkgkppdeep iithgftmtt diffkeaiea iaesafktsp ypiilsfenh vdsprqqakm
      421 aeycrtifgd mllteplekf plkpgvplps pedlrgkili knkknqfsgp tssskdtgge
      481 aegssppsap avwageegte leeeeveeee eeesgnldee eikkmqsdeg taglevtaye
      541 emsslvnyiq ptkfvsfefs aqknrsyvis sftelkaydl lskasvqfvd ynkrqmsriy
      601 pkgtrmdssn ympqmfwnag cqmvalnfqt mdlpmqqnma vfefngqsgy llkhefmrrp
      661 dkqfnpfsvd ridvvvattl sitvisgqfl sersvrtyve velfglpgdp krryrtklsp
      721 stnsinpvwk eepfvfekil mpelaslrva vmeegnkflg hriipinaln sgyhhlclhs
      781 esnmpltmpa lfiflemkdy ipgawadltv alanpikffs ahdtksvklk eamgglpekp
      841 fplaspvasq vngalaptsn gspeprtasl eelrelkgvv klqrrhekel relerrgarr
      901 weellqrgaa qlaelgppgv ggvgacklgp gkgsrkkrsl preesagaap gegpegvdgr
      961 vrelkdrlel ellrqgeeqy ecvlkrkeqh vaeqiskmme larekqaael kalketsend
     1021 tkemkkklet krleriqgmt kvttdkmaqe rlkreinnsh iqevvqvikq mtenlerhqe
     1081 kleekqaacl eqiremekqg sllspqfqke alaeyearmk gleaevkesv raclrtcfps
     1141 eakdkperac ecppelceqd pliakadaqe srl
//
LOCUS       XP_011520147            1263 aa            linear   PRI 20-MAR-2023
DEFINITION  immunoglobulin superfamily DCC subclass member 4 isoform X4 [Homo
            sapiens].
ACCESSION   XP_011520147
VERSION     XP_011520147.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521845.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1263
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1263
                     /product="immunoglobulin superfamily DCC subclass member 4
                     isoform X4"
                     /calculated_mol_wt=135535
     Region          66..148
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cd00096"
                     /db_xref="CDD:409353"
     Region          66..70
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          82..86
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          104..108
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          131..136
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          145..148
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          158..229
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          173..177
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          186..190
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          208..212
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          222..227
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          263..344
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          274..278
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          287..292
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          308..312
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          322..327
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          337..340
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          363..435
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          365..369
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          378..382
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          401..405
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          415..420
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          428..431
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Site            order(442,508,523)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          443..528
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(524..525,527..528)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          540..633
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(540,606,621)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(622..623,625..626)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            order(643,722,737)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          645..739
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          763..855
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(763,828,843)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(844..845,847..848)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          863..955
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(944..945,947..948)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          <997..1263
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..1263
                     /gene="IGDCC4"
                     /gene_synonym="DDM36; NOPE"
                     /coded_by="XM_011521845.4:340..4131"
                     /db_xref="GeneID:57722"
                     /db_xref="HGNC:HGNC:13770"
                     /db_xref="MIM:616810"
ORIGIN      
        1 mgrvsprphp pgtdqgsvde vsrassspqp saewvrgell lpqettvels cgvgplqvil
       61 gpeqaavlnc slgaaaagpp trvtwskdgd tllehdhlhl lpngslwlsq plapngsdes
      121 vpeavgvieg nysclahgpl gvlasqtavv klatladfsl hpesqtveen gtarfechie
      181 glpapiitwe kdqvtlpeep rlivlpngvl qildvqesda gpyrcvatns arqhfsqeal
      241 lsvahrgsla strgqdvviv aapenttvvs gqsvvmecva sadptpfvsw vrqdgkpist
      301 dvivlgrtnl lianaqpwhs gvyvcrankp rtrdfataaa elrvlaapai tqapealsrt
      361 rastarfvcr asgeprpalr wlhngaplrp ngrvkvqggg gslvitqigl qdagyyqcva
      421 ensagmacaa aslavvvreg lpsaptrvta tplsssavlv awerpemhse qiigfslhyq
      481 kargmdnvey qfavnndtte lqvrdlepnt dyefyvvays qlgasrtstp alvhtlddvp
      541 saapqlslss pnpsdirvaw lplppslsng qvvkykieyg lgkedqifst evrgnetqlm
      601 lnslqpnkvy rvrisagtaa gfgapsqwmh hrtpsmhnqs hvpfapaelk vqakmeslvv
      661 swqppphptq isgyklywre vgaeeeangd rlpggrgdqa wdvgpvrlkk kvkqyeltql
      721 vpgrlyevkl vafnkhedgy aavwkgktek apapdmpiqr gpplppahvh aesnsstsiw
      781 lrwkkpdftt vkivnytvrf spwglrnasl vtyytssged iligglkpft kyefavqshg
      841 vdmdgpfgsv verstlpdrp stppsdlrls pltpstvrlh wcpptepnge iveylilyss
      901 nhtqpehqwt llttqgnifs aevhglesdt ryffkmgart evgpgpfsrl qdvitlqekl
      961 sdsldmhsvt giivgvclgl lcllacmcag lrrsphresl pglsstatpg npalysrarl
     1021 gppsppaahe leslvhphpq dwspppsdve draevhslmg ggvsegrshs krkiswaqps
     1081 glswagswag celpqagprp altrallppa gtgqtlllqa lvydaikgng rkksppacrn
     1141 qveaevivhs dfsasngnpd lhlqdleped plppeapdli sgvgdpgqga awldrelggc
     1201 elaapgpdrl tclpeaasas csypdlqpge vleetpgdsc qlkspcplga spglprspvs
     1261 ssa
//
LOCUS       XP_047291678             372 aa            linear   PRI 20-MAR-2023
DEFINITION  dehydrogenase/reductase SDR family member 7B isoform X1 [Homo
            sapiens].
ACCESSION   XP_047291678
VERSION     XP_047291678.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435722.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..372
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..372
                     /product="dehydrogenase/reductase SDR family member 7B
                     isoform X1"
                     /calculated_mol_wt=40249
     Region          97..358
                     /region_name="11beta-HSD1_like_SDR_c"
                     /note="11beta-hydroxysteroid dehydrogenase type 1
                     (11beta-HSD1)-like, classical (c) SDRs; cd05332"
                     /db_xref="CDD:187593"
     Site            order(106..111,130..132,161..163,189..191,193,212,217,
                     239..241,254,258,284..287,289,291..292)
                     /site_type="other"
                     /note="NADP binding site [chemical binding]"
                     /db_xref="CDD:187593"
     Site            order(166,196..200,203,206..207,210..211,214..215,219,222,
                     245..252,255..256,259..260,262..264,266..268,270..271,
                     298..302,337,346..347,349,351..352,354..356,358)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:187593"
     Site            order(191,194,241..243,248,251,254,284..286,291..292,
                     295..296)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:187593"
     Site            order(213,241,254,258)
                     /site_type="active"
                     /db_xref="CDD:187593"
     CDS             1..372
                     /gene="DHRS7B"
                     /gene_synonym="CGI-93; SDR32C1"
                     /coded_by="XM_047435722.1:9..1127"
                     /db_xref="GeneID:25979"
                     /db_xref="HGNC:HGNC:24547"
                     /db_xref="MIM:616160"
ORIGIN      
        1 mvspatrqrp gprmdpihpa pclpqakwsp gpgdqgwpvm lcqvlkesqk ctrrkslpkv
       61 kamdfitsta ilpllfgclg vfglfrllqw vrgkaylrna vvvitgatsg lgkecakvfy
      121 aagaklvlcg rnggaleeli reltashatk vqthkpylvt fdltdsgaiv aaaaeilqcf
      181 gyvdilvnna gisyrgtimd ttvdvdkrvm etnyfgpval tkallpsmik rrqghivais
      241 siqgkmsipf rsayaaskha tqaffdclra emeqyeievt vispgyihtn lsvnaitadg
      301 srygvmdttt aqgrspveva qdvlaavgkk kkdviladll pslavylrtl apglffslma
      361 srarkerksk ns
//
LOCUS       XP_006722009              99 aa            linear   PRI 20-MAR-2023
DEFINITION  HIG1 domain family member 1B isoform X1 [Homo sapiens].
ACCESSION   XP_006722009
VERSION     XP_006722009.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006721946.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..99
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..99
                     /product="HIG1 domain family member 1B isoform X1"
                     /calculated_mol_wt=10927
     Region          27..79
                     /region_name="HIG_1_N"
                     /note="Hypoxia induced protein conserved region;
                     pfam04588"
                     /db_xref="CDD:428024"
     CDS             1..99
                     /gene="HIGD1B"
                     /gene_synonym="CLST11240; CLST11240-15"
                     /coded_by="XM_006721946.3:187..486"
                     /db_xref="GeneID:51751"
                     /db_xref="HGNC:HGNC:24318"
ORIGIN      
        1 msanrrwwvp pddedcvsek llrktrespl vpiglggclv vaayriyrlr srgstkmsih
       61 lihtrvaaqa cavgaimlga vytmysdyvk rmaqdagek
//
LOCUS       XP_011522259             677 aa            linear   PRI 20-MAR-2023
DEFINITION  mitogen-activated protein kinase 7 isoform X4 [Homo sapiens].
ACCESSION   XP_011522259
VERSION     XP_011522259.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523957.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..677
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..677
                     /product="mitogen-activated protein kinase 7 isoform X4"
                     /calculated_mol_wt=73087
     Region          <1..245
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..677
                     /gene="MAPK7"
                     /gene_synonym="BMK1; ERK4; ERK5; PRKM7"
                     /coded_by="XM_011523957.4:65..2098"
                     /db_xref="GeneID:5598"
                     /db_xref="HGNC:HGNC:6880"
                     /db_xref="MIM:602521"
ORIGIN      
        1 mesdlhqiih ssqpltlehv ryflyqllrg lkymhsaqvi hrdlkpsnll vnencelkig
       61 dfgmarglct spaehqyfmt eyvatrwyra pelmlslhey tqaidlwsvg cifgemlarr
      121 qlfpgknyvh qlqlimmvlg tpspaviqav gaervrayiq slpprqpvpw etvypgadrq
      181 alsllgrmlr fepsarisaa aalrhpflak yhdpddepdc appfdfafdr ealtrerike
      241 aivaeiedfh arregirqqi rfqpslqpva sepgcpdvem pspwapsgdc amespppapp
      301 pcpgpapdti dltlqppppv sepappkkdg aisdntkaal kaallkslrs rlrdgpsapl
      361 eapeprkpvt aqerqreree krrrrqerak erekrrqere rkergagasg gpstdplagl
      421 vlsdndrsll erwtrmarpa apaltsvpap apaptptptp vqptspppgp vaqptgpqpq
      481 sagstsgpvp qpacpppgpa phptgppgpi pvpappqiat stsllaaqsl vpppglpgss
      541 tpgvlpyfpp glpppdagga pqssmsespd vnlvtqqlsk sqvedplppv fsgtpkgsga
      601 gygvgfdlee flnqsfdmgv adgpqdgqad saslsaslla dwleghgmnp adieslqrei
      661 qmdspmllad lpdlqdp
//
LOCUS       XP_011508831             704 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase 11-interacting protein isoform X6
            [Homo sapiens].
ACCESSION   XP_011508831
VERSION     XP_011508831.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011510529.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..704
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..704
                     /product="serine/threonine-protein kinase 11-interacting
                     protein isoform X6"
                     /calculated_mol_wt=77874
     Region          8..93
                     /region_name="LIP1"
                     /note="LKB1 serine/threonine kinase interacting protein 1;
                     pfam15904"
                     /db_xref="CDD:435007"
     Region          160..187
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <173..321
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          188..210
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          211..233
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          234..255
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          256..280
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..704
                     /gene="STK11IP"
                     /gene_synonym="LIP1; LKB1IP; STK11IP1"
                     /coded_by="XM_011510529.2:94..2208"
                     /db_xref="GeneID:114790"
                     /db_xref="HGNC:HGNC:19184"
                     /db_xref="MIM:607172"
ORIGIN      
        1 mttaqrdsll wklagllres gdvvlsgcst lslltptlqq lnhvfelhlg pwgpgqtgfv
       61 alpshpadsp vilqlqflfd vlqktlslkl vhvagpgptg pikifpfksl rhlelrgvpl
      121 hclhglrgiy sqletlicsr slqaleells acggdfcsal pwlallsanf synaltalds
      181 slrllsalrf lnlshnqvqd cqgflmdlce lhhldisynr lhlvprmgps gaalgvlilr
      241 gnelrslhgl eqlrnlrhld laynlleghr elsplwllae lrklylegnp lwfhpehraa
      301 taqylsprar daatgflldg kvlsltdfqt htslglspmg pplpwpvgst petsggpdls
      361 dslssggvvt qpllhkvksr vrvrrasise psdtdpeprt lnpspagwfv qqhpelelms
      421 sfrerfgrnw lqyrshleps gnplpatptt sapsappass qgpdtaprps ppqeeargpq
      481 espqkmseev raepqeeeee kegkeekeeg emveqgeeea geeeeeeqdq keveaelcrp
      541 llvcplegpe gvrgrecflr vtsahlfeve lqaartlerl elqsleaaei epeaqaqrsp
      601 rptgsdllpg apilslrfsy icpdrqlrry lvlepdahaa vqellavltp vtnvareqlg
      661 eardlllgrf qclrcghefk peeprmglds eegwrplfqk tdtt
//
LOCUS       XP_024308866           33035 aa            linear   PRI 20-MAR-2023
DEFINITION  titin isoform X12 [Homo sapiens].
ACCESSION   XP_024308866
VERSION     XP_024308866.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453098.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..33035
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..33035
                     /product="titin isoform X12"
                     /calculated_mol_wt=3667988
     Region          6..98
                     /region_name="IgI_1_Titin_Z1z2-like"
                     /note="First Ig-like domain of the giant muscle protein
                     titin Z1z2 in the sarcomeric Z-disk and similar proteins;
                     a member of the I-set of IgSF domains; cd20974"
                     /db_xref="CDD:409566"
     Region          6..8
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409566"
     Region          11..16
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409566"
     Region          23..31
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409566"
     Region          36..40
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409566"
     Region          44..46
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409566"
     Region          53..59
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409566"
     Region          62..67
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409566"
     Region          76..84
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409566"
     Region          87..98
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409566"
     Region          103..193
                     /region_name="IgI_2_Titin_Z1z2-like"
                     /note="Second Ig-like domain of the giant muscle protein
                     titin Z1z2 in the sarcomeric Z-disk, and similar domains;
                     a member of the I-set of IgSF domains; cd20972"
                     /db_xref="CDD:409564"
     Region          103..106
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409564"
     Region          109..113
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409564"
     Region          121..129
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409564"
     Region          134..139
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409564"
     Region          142..144
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409564"
     Region          150..155
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409564"
     Region          158..163
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409564"
     Region          172..180
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409564"
     Region          183..193
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409564"
     Region          <250..375
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          467..507
                     /region_name="Titin_Z"
                     /note="Titin Z; pfam09042"
                     /db_xref="CDD:430384"
     Region          511..551
                     /region_name="Titin_Z"
                     /note="Titin Z; pfam09042"
                     /db_xref="CDD:430384"
     Region          553..595
                     /region_name="Titin_Z"
                     /note="Titin Z; pfam09042"
                     /db_xref="CDD:430384"
     Region          600..641
                     /region_name="Titin_Z"
                     /note="Titin Z; pfam09042"
                     /db_xref="CDD:430384"
     Region          645..687
                     /region_name="Titin_Z"
                     /note="Titin Z; pfam09042"
                     /db_xref="CDD:430384"
     Region          944..1033
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          961..965
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          974..978
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          999..1003
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1013..1018
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1026..1029
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1083..1172
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1100..1104
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1113..1117
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1140..1144
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1154..1159
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1167..1170
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1294..1382
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          1309..1313
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1322..1326
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1348..1352
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1362..1367
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1375..1378
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1458..1548
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          1475..1479
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1488..1492
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1514..1518
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1528..1533
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1541..1544
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1557..1648
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          1574..1578
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1587..1591
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1614..1618
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1628..1633
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1641..1644
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          <1723..1795
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          1736..1740
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1761..1765
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1775..1780
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1788..1791
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1842..1930
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1859..1863
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1872..1876
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1896..1900
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1910..1915
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1923..1926
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2079..2170
                     /region_name="IgI_titin_I1-like"
                     /note="Immunoglobulin domain I1 of the titin I-band and
                     similar proteins; a member of the I-set of IgSF domains;
                     cd20951"
                     /db_xref="CDD:409543"
     Region          2079..2081
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409543"
     Region          2083..2089
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409543"
     Region          2096..2103
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409543"
     Region          2109..2114
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409543"
     Region          2116..2119
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409543"
     Region          2125..2129
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409543"
     Region          2134..2141
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409543"
     Region          2148..2156
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409543"
     Region          2159..2170
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409543"
     Region          2177..2263
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          2193..2197
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2205..2209
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2230..2234
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2244..2248
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2269..2353
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          2286..2289
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2297..2301
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2322..2326
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2358..2429
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          2374..2378
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2386..2390
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2411..2415
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2425..2429
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2448..2531
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          2463..2467
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2476..2480
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2501..2505
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2515..2520
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2524..2527
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2535..2618
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          2623..2705
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          2650..2654
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2675..2679
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2689..2694
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2698..2701
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2709..2793
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          2797..2880
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          2813..2817
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2826..2829
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2850..2854
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2864..2869
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2873..2876
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2884..2967
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          2900..2904
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2913..2916
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2937..2941
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2951..2956
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2964..2967
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2972..3054
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          2987..2991
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2999..3003
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          3024..3028
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          3038..3043
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          3047..3050
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          3060..3143
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          3076..3080
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          3088..3092
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          3113..3117
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          3127..3132
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          3154..3234
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          3165..3169
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          3177..3181
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          3202..3208
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          3218..3223
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          3227..3230
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          3240..3330
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          3257..3261
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          3270..3274
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          3295..3299
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          3309..3314
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          3322..3325
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          3346..3432
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          3363..3367
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          3375..3379
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          3400..3404
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          3414..3419
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          3427..3430
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          3504..3593
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          3521..3525
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          3534..3538
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          3559..3563
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          3573..3578
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          3622..3712
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          3639..3643
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          3652..3656
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          3678..3682
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          3692..3697
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          3705..3708
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          4290..4378
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          4318..4322
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          4343..4347
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          4358..4363
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          4384..4473
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          4401..4405
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          4414..4418
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          4439..4443
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          4453..4458
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          4466..4469
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          4479..4568
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          4496..4500
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          4509..4513
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          4534..4538
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          4548..4553
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          4561..4564
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          4572..4661
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          4589..4593
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          4602..4606
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          4627..4631
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          4641..4646
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          4655..4658
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          4665..4755
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          4683..4687
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          4696..4700
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          4721..4725
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          4735..4740
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          4759..4845
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          4776..4780
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          4789..4793
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          4814..4818
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          4828..4833
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          4852..4941
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          4869..4873
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          4882..4886
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          4907..4911
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          4921..4926
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          4934..4937
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          4954..5034
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          4962..4966
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          4975..4979
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          5000..5004
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          5014..5019
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          5028..5031
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          5041..5130
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          5059..5062
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          5071..5075
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          5096..5100
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          5110..5115
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          5124..5127
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          5134..5223
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          5151..5155
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          5164..5168
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          5189..5193
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          5203..5208
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          5216..5219
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          5229..5317
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          5246..5249
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          5258..5262
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          5283..5287
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          5297..5302
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          5311..5314
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          5321..5409
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          5338..5342
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          5351..5355
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          5376..5380
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          5390..5395
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          5414..5503
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          5444..5448
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          5469..5473
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          5483..5488
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          5515..5596
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          5524..5528
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          5537..5541
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          5562..5566
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          5576..5581
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          5591..5594
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          5603..5692
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          5633..5637
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          5658..5662
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          5672..5677
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          5696..5785
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          5713..5717
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          5726..5730
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          5751..5755
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          5765..5770
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          5778..5781
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          5789..5879
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          5807..5811
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          5820..5824
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          5845..5849
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          5859..5864
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          5872..5875
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          5883..5971
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          5900..5904
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          5913..5917
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          5938..5942
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          5952..5957
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          5976..6065
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          5993..5997
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          6006..6010
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          6031..6035
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          6045..6050
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          6070..6158
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          6087..6090
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          6099..6103
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          6124..6128
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          6138..6143
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          6165..6254
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          6182..6186
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          6195..6199
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          6220..6224
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          6234..6239
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          6247..6250
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          6258..6347
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          6275..6279
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          6288..6292
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          6313..6317
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          6327..6332
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          6340..6343
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          6351..6441
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          6370..6373
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          6382..6386
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          6407..6411
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          6421..6426
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          6445..6533
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          6462..6466
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          6475..6479
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          6500..6504
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          6514..6519
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          6538..6628
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          6555..6559
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          6568..6572
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          6594..6598
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          6608..6613
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          6621..6624
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          6633..6721
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          6650..6653
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          6662..6666
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          6687..6691
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          6701..6706
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          6715..6718
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          6728..6817
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          6758..6762
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          6783..6787
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          6797..6802
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          6811..6814
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          6821..6910
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          6838..6842
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          6851..6855
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          6876..6880
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          6890..6895
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          6903..6906
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          6916..7001
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          6944..6948
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          6969..6973
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          6983..6988
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          7007..7091
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          7024..7028
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          7037..7041
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          7062..7066
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          7076..7081
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          7090..7093
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          7103..7191
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          7120..7124
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          7133..7137
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          7158..7162
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          7172..7177
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          7199..7288
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          7216..7220
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          7229..7233
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          7255..7258
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          7268..7273
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          7281..7284
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          7292..7382
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          7310..7314
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          7323..7327
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          7348..7352
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          7362..7367
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          7375..7378
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          7386..7474
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          7403..7407
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          7416..7420
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          7441..7445
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          7455..7460
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          7468..7471
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          7479..7569
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          7496..7500
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          7509..7513
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          7535..7539
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          7549..7554
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          7562..7565
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          7574..7662
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          7590..7594
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          7603..7607
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          7628..7632
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          7642..7647
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          7669..7758
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          7686..7690
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          7699..7703
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          7724..7728
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          7738..7743
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          7751..7754
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          7762..7851
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          7779..7783
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          7792..7796
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          7817..7821
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          7831..7836
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          7844..7847
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          7857..7944
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          7872..7876
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          7885..7889
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          7910..7914
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          7924..7929
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          7937..7940
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          7948..8037
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          7965..7969
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          7978..7982
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          8003..8007
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          8017..8022
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          8030..8033
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          8044..8132
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          8061..8065
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          8074..8078
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          8099..8103
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          8113..8118
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          8140..8229
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          8157..8161
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          8170..8174
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          8195..8199
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          8209..8214
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          8222..8225
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          8233..8310
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          8264..8268
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          8289..8293
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          8303..8308
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          8327..8410
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          8344..8348
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          8357..8361
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          8382..8386
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          8396..8401
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          8409..8412
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          8420..8510
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          8437..8441
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          8450..8454
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          8476..8480
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          8490..8495
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          8516..8603
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          8531..8535
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          8544..8548
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          8569..8573
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          8583..8588
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          8596..8599
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          8610..8699
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          8627..8631
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          8640..8644
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          8663..8669
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          8679..8684
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          8692..8695
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          8703..8790
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          8720..8724
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          8733..8737
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          8758..8762
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          8772..8777
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          8785..8788
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          8797..8882
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          8813..8817
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          8826..8830
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          8851..8855
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          8865..8870
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          8889..8978
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          8906..8910
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          8919..8923
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          8944..8948
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          8958..8963
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          8971..8974
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          8985..9073
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          9002..9006
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          9015..9019
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          9040..9044
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          9054..9059
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          9067..9070
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          9081..9170
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          9098..9102
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          9111..9115
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          9137..9140
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          9150..9155
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          9163..9166
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          9177..9267
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          9195..9199
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          9208..9212
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          9233..9237
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          9247..9252
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          9260..9263
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          9274..9363
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          9291..9295
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          9304..9308
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          9329..9333
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          9343..9348
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          9384..9472
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          9399..9403
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          9412..9416
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          9438..9442
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          9452..9457
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          9465..9468
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          9506..9536
                     /region_name="THB"
                     /note="Tri-helix bundle domain; pfam18362"
                     /db_xref="CDD:436437"
     Region          9590..9670
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          9615..9619
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          9640..9644
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          9673..9755
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          9690..9694
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          9702..9706
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          9727..9731
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          9750..9753
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          9763..9849
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          9779..9783
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          9791..9795
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          9816..9820
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          9830..9835
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          9844..9847
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          <10135..10300
                     /region_name="PspC_subgroup_2"
                     /note="pneumococcal surface protein PspC, LPXTG-anchored
                     form; NF033839"
                     /db_xref="CDD:411408"
     Region          <10211..10556
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          10728..10819
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          10748..10752
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          10761..10764
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          10785..10789
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          10799..10804
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          10832..10902
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          10925..>10989
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          11012..11093
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          11100..11182
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          11115..11119
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          11127..11130
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          11152..11155
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          11187..11270
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          11203..11207
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          11215..11219
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          11240..11244
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          11254..11259
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          11263..11266
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          11275..11358
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          11292..11296
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          11303..11307
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          11328..11332
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          11342..11347
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          11351..11354
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          11364..11447
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          11380..11384
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          11392..11396
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          11417..11421
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          11431..11436
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          11440..11443
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          11454..11528
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          11469..11473
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          11481..11485
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          11506..11510
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          11520..11525
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          11542..11625
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          11649..11709
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          11659..11663
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          11684..11688
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          11698..11703
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          11720..11803
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          11811..11892
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          11825..11829
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          11837..11841
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          11862..11866
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          11876..11881
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          11885..11888
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          11898..11981
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          11914..11918
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          11926..11930
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          11951..11955
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          11965..11970
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          11974..11977
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          11993..12070
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          12003..12007
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          12015..12019
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          12040..12044
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          12054..12059
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          12063..12066
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          12084..12152
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          12092..12096
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          12104..12108
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          12129..12133
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          12143..12148
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          12165..12248
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          12181..12185
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          12194..12197
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          12218..12222
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          12241..12244
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          12254..12342
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          12269..12273
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          12281..12285
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          12306..12310
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          12320..12325
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          12334..12337
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          12347..12430
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          12363..12367
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          12375..12379
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          12400..12404
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          12414..12419
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          12423..12426
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          12436..12519
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          12452..12456
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          12464..12468
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          12489..12493
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          12503..12508
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          12512..12515
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          12525..12607
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          12621..12698
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          12629..12633
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          12642..12646
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          12664..12668
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          12678..12683
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          12691..12694
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          12702..12790
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(12702,12767,12783)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(12784..12785,12787..12788)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          12803..12895
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(12803,12869,12884)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(12885..12886,12888..12889)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          12904..12991
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(12904,12970,12985)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(12986..12987,12989..12990)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          13022..13096
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          13024..13028
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          13037..13041
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          13062..13066
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          13076..13081
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          13089..13092
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          13100..13185
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(13100,13165,13180)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(13181..13182,13184..13185)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          13200..13289
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(13200,13265,13280)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(13281..13282,13284..13285)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          13312..13392
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          13320..13324
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          13333..13337
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          13358..13362
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          13372..13377
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          13385..13388
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          13396..13487
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(13396,13461,13476)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(13477..13478,13480..13481)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          13495..13587
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(13495,13561,13576)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(13577..13578,13580..13581)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          13596..13684
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(13596,13661,13676)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(13677..13678,13680..13681)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          13696..13784
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(13696,13761,13776)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(13777..13778,13780..13781)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          13796..13887
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(13796,13862,13877)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(13878..13879,13881..13882)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          13897..13988
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(13897,13964,13979)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(13980..13981,13983..13984)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          14008..14088
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          14016..14020
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          14029..14033
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          14054..14058
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          14068..14073
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          14081..14084
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          14092..14178
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(14092,14157,14172)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(14173..14174,14176..14177)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          14197..14284
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(14274..14275,14277..14278)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          14303..14410
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          14309..14313
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          14322..14326
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          14376..14380
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          14390..14395
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          14403..14406
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          14414..14498
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Site            order(14414,14481,14496)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(14497..14498,14500..14501)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          14515..14607
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(14515,14580,14595)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(14596..14597,14599..14600)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          14621..14707
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(14696..14697,14699..14700)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          14730..14805
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          14734..14738
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          14747..14751
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          14771..14775
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          14785..14790
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          14798..14801
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          14809..14898
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(14809,14873,14888)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(14889..14890,14892..14893)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          14907..14999
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(14907,14973,14988)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(14989..14990,14992..14993)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          15019..15106
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          15028..15032
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          15041..15045
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          15072..15076
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          15086..15091
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          15099..15102
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          15110..15194
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Site            order(15110,15177,15192)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(15193..15194,15196..15197)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          15211..15305
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(15211,15282,15297)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(15298..15299,15301..15302)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          15317..15408
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(15317,15385,15400)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(15401..15402,15404..15405)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          15431..15520
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          15431..15435
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          15440..15446
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          15452..15458
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          15478..15483
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          15484..15490
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          15499..15507
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          15510..15520
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          15524..15616
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(15524,15589,15604)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(15605..15606,15608..15609)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          15629..15722
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(15711..15712,15714..15715)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          15740..15825
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          15746..15750
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          15759..15763
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          15791..15795
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          15805..15810
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          15818..15821
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          15829..15921
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(15829,15895,15910)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(15911..15912,15914..15915)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          15929..16026
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(15929,15999,16014)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(16015..16016,16018..16019)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          16040..16125
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(16115..16116,16118..16119)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          16145..16224
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          16145..16149
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          16154..16160
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          16166..16172
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          16182..16187
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          16188..16194
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          16203..16211
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          16214..16224
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          16228..16319
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(16228,16294,16309)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(16310..16311,16313..16314)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          16329..16422
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(16329,16395,16410)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(16411..16412,16414..16415)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          16440..16520
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          16448..16452
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          16461..16465
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          16487..16491
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          16500..16505
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          16513..16516
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          16524..16616
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(16524,16590,16605)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(16606..16607,16609..16610)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          16624..16713
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(16624,16690,16705)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(16706..16707,16709..16710)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          16725..16813
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(16725,16793,16808)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(16809..16810,16812..16813)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          16841..16918
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          16848..16852
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          16861..16865
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          16884..16888
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          16898..16903
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          16911..16914
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          16922..17009
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(16922,16987,17002)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(17003..17004,17006..17007)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          17022..17111
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(17022,17086,17101)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(17102..17103,17105..17106)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          17132..17212
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          17140..17144
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          17153..17157
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          17178..17182
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          17192..17197
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          17205..17208
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          17216..17308
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(17216,17282,17297)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(17298..17299,17301..17302)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          17316..17407
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(17316,17381,17396)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(17397..17398,17400..17401)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          17416..17502
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(17416,17483,17498)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          17529..17610
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          17538..17542
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          17551..17555
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          17576..17580
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          17590..17595
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          17605..17608
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          17614..17704
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(17614,17678,17693)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(17694..17695,17697..17698)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          17713..17806
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(17713,17779,17794)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(17795..17796,17798..17799)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          17813..17906
                     /region_name="IgI_1_Titin_Z1z2-like"
                     /note="First Ig-like domain of the giant muscle protein
                     titin Z1z2 in the sarcomeric Z-disk and similar proteins;
                     a member of the I-set of IgSF domains; cd20974"
                     /db_xref="CDD:409566"
     Region          17813..17815
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409566"
     Region          17818..17823
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409566"
     Region          17831..17839
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409566"
     Region          17844..17848
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409566"
     Region          17852..17854
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409566"
     Region          17861..17867
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409566"
     Region          17870..17875
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409566"
     Region          17884..17892
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409566"
     Region          17895..17906
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409566"
     Region          17909..18000
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(17909,17974,17989)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(17990..17991,17993..17994)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          18008..18101
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(18008,18074,18089)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(18090..18091,18093..18094)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          18109..18207
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(18109,18181,18196)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(18197..18198,18200..18201)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          18228..18307
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          18228..18231
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          18236..18242
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          18248..18254
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          18265..18270
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          18271..18277
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          18286..18294
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          18297..18307
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          18311..18397
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(18311,18376,18391)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(18392..18393,18395..18396)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          18411..18496
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(18411,18477,18492)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          18520..18600
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          18520..18523
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          18528..18534
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          18540..18546
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          18558..18563
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          18564..18570
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          18579..18587
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          18590..18600
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          18604..18692
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(18604,18670,18685)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(18686..18687,18689..18690)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          18704..18797
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(18704,18770,18785)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(18786..18787,18789..18790)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          18803..18897
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(18886..18887,18889..18890)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          18917..18997
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          18925..18929
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          18938..18942
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          18963..18967
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          18977..18982
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          18990..18993
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          19001..19092
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(19001,19066,19081)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(19082..19083,19085..19086)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          19100..19189
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(19100,19166,19181)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(19182..19183,19185..19186)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          19201..19289
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(19201,19268,19283)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(19284..19285,19287..19288)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          19314..19395
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          19314..19318
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          19323..19329
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          19335..19341
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          19353..19358
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          19359..19365
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          19374..19382
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          19385..19395
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          19399..19490
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(19399,19464,19479)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(19480..19481,19483..19484)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          19496..19584
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(19496,19559,19574)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(19575..19576,19578..19579)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          19603..19684
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          19603..19607
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          19612..19618
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          19624..19630
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          19642..19647
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          19648..19654
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          19663..19671
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          19674..19684
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          19688..19780
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(19688,19754,19769)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(19770..19771,19773..19774)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          19788..19881
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(19788,19854,19869)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(19870..19871,19873..19874)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          19887..19979
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(19969..19970,19972..19973)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          20000..20081
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          20008..20013
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          20022..20026
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          20047..20051
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          20061..20066
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          20074..20077
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          20085..20176
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(20085,20150,20165)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(20166..20167,20169..20170)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          20192..20273
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(20266..20267,20269..20270)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          20285..20372
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(20285,20352,20367)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(20368..20369,20371..20372)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          20397..20476
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          20397..20401
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          20406..20412
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          20418..20424
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          20434..20439
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          20440..20446
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          20455..20463
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          20466..20476
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          20480..20569
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(20480,20545,20560)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(20561..20562,20564..20565)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          20577..20668
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(20577,20641,20656)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(20657..20658,20660..20661)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          20687..20767
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          20687..20690
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          20695..20701
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          20707..20713
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          20725..20730
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          20731..20737
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          20746..20754
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          20757..20767
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          20771..20855
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(20771,20837,20852)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          20871..20961
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(20871,20937,20952)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(20953..20954,20956..20957)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          20970..21063
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(21052..21053,21055..21056)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          21082..21163
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          21091..21095
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          21104..21108
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          21129..21133
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          21143..21148
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          21156..21159
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          21167..21258
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(21167,21233,21248)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(21249..21250,21252..21253)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          21267..21359
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(21267,21333,21348)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(21349..21350,21352..21353)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          21368..21455
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(21368,21435,21450)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(21451..21452,21454..21455)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          21481..21560
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          21481..21485
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          21490..21496
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          21502..21508
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          21518..21523
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          21524..21530
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          21539..21547
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          21550..21560
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          21564..21653
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(21564,21629,21644)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(21645..21646,21648..21649)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          21661..21744
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(21661,21725,21740)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          21768..21849
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          21768..21772
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          21777..21783
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          21789..21795
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          21807..21812
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          21813..21819
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          21828..21836
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          21839..21849
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          21853..21945
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(21853,21919,21934)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(21935..21936,21938..21939)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          21953..22046
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(21953,22019,22034)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(22035..22036,22038..22039)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          22052..22145
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(22133,22135,22137..22138)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          22164..22245
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          22164..22168
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          22173..22179
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          22185..22191
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          22203..22208
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          22209..22215
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          22224..22232
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          22235..22245
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          22249..22341
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(22249,22315,22330)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(22331..22332,22334..22335)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          22349..22438
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(22349,22415,22430)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(22431..22432,22434..22435)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          22450..22538
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(22450,22517,22532)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(22533..22534,22536..22537)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          22564..22642
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          22564..22567
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          22572..22578
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          22584..22590
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          22600..22605
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          22606..22612
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          22621..22629
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          22632..22642
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          22646..22733
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(22646,22711,22726)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(22727..22728,22730..22731)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          22743..22826
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(22743,22807,22822)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          22851..22929
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          22851..22854
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          22859..22865
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          22871..22877
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          22889..22894
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          22895..22901
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          22910..22918
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          22921..22929
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          22935..23027
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(22935,23001,23016)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(23017..23018,23020..23021)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          23035..23128
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(23035,23101,23116)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(23117..23118,23120..23121)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          23134..23227
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(23216..23217,23219..23220)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          23246..23327
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          23255..23259
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          23268..23272
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          23293..23297
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          23307..23312
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          23320..23323
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          23331..23422
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(23331,23397,23412)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(23413..23414,23416..23417)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          23431..23521
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(23431,23497,23512)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(23513..23514,23516..23517)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          23532..23626
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(23532,23599,23614)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(23615..23616,23618,23620)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          23646..23724
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          23646..23649
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          23654..23660
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          23666..23672
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          23682..23687
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          23688..23694
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          23703..23711
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          23714..23724
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          23728..23819
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(23728,23793,23808)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(23809..23810,23812..23813)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          23825..23908
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(23825,23889,23904)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          23932..24013
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          23932..23936
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          23941..23947
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          23953..23959
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          23971..23976
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          23977..23983
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          23992..24000
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          24003..24013
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          24017..24110
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(24017,24083,24098)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(24099..24100,24102..24103)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          24117..24208
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(24117,24183,24198)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(24199..24200,24202..24203)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          24216..24309
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(24297,24299,24301..24302)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          24328..24410
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          24337..24341
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          24350..24354
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          24376..24380
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          24390..24395
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          24403..24406
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          24414..24506
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(24414,24480,24495)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(24496..24497,24499..24500)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          24514..24606
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(24514,24580,24595)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(24596..24597,24599..24600)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          24615..24703
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(24615,24682,24697)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(24698..24699,24701..24702)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          24728..24807
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          24728..24732
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          24737..24743
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          24749..24755
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          24765..24770
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          24771..24777
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          24786..24794
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          24797..24807
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          24811..24900
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(24811,24876,24891)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(24892..24893,24895..24896)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          24908..24991
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(24908,24972,24987)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          25015..25096
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          25015..25019
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          25024..25030
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          25036..25042
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          25054..25059
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          25060..25066
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          25075..25083
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          25086..25096
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          25100..25191
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(25100,25165,25180)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(25181..25182,25184..25185)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          25199..25283
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(25199,25265,25280)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          25298..25387
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(25380..25381,25383..25384)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          25410..25491
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          25410..25414
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          25419..25425
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          25431..25437
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          25449..25454
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          25455..25461
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          25470..25478
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          25481..25491
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          25495..25587
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(25495,25561,25576)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(25577..25578,25580..25581)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          25595..25687
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(25595,25661,25676)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(25677..25678,25680..25681)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          25696..25784
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(25696,25761,25776)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(25777..25778,25780..25781)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          25807..25886
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          25807..25811
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          25816..25822
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          25828..25834
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          25844..25849
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          25850..25856
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          25865..25873
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          25876..25886
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          25890..25981
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(25890,25955,25970)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(25971..25972,25974..25975)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          25987..26070
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(25987,26051,26066)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          26097..26178
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          26097..26101
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          26106..26112
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          26118..26124
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          26136..26141
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          26142..26148
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          26157..26165
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          26168..26178
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          26182..26275
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(26182,26248,26263)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(26264..26265,26267..26268)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          26282..26372
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(26282,26348,26363)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(26364..26365,26367..26368)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          26381..26474
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(26463..26464,26466..26467)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          26493..26574
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          26493..26497
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          26502..26508
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          26514..26520
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          26532..26537
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          26538..26544
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          26553..26561
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          26564..26574
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          26578..26670
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(26578,26644,26659)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(26660..26661,26663..26664)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          26678..26770
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(26678,26744,26759)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(26760..26761,26763..26764)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          26779..26867
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(26779,26846,26861)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(26862..26863,26865..26866)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          26893..26974
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          26893..26896
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          26901..26907
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          26913..26919
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          26931..26936
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          26937..26943
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          26952..26960
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          26963..26974
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          26978..27067
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(26978,27043,27058)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(27059..27060,27062..27063)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          27075..27166
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(27075,27139,27154)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(27155..27156,27158..27159)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          27185..27252
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          27193..27197
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          27206..27210
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          27231..27235
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          27245..27250
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          27269..27361
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(27269,27335,27350)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(27351..27352,27354..27355)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          27369..27461
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(27369,27435,27450)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(27451..27452,27454..27455)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          27468..27559
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(27548,27550,27552..27553)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          27580..27660
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          27588..27592
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          27601..27605
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          27626..27630
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          27640..27645
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          27653..27656
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          27671..27756
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(27746..27747,27749..27750)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          27764..27851
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(27764,27831,27846)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(27847..27848,27850..27851)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          27866..27955
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(27866,27932,27947)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(27948..27949,27951..27952)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          27978..28057
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          27978..27982
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          27987..27993
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          27999..28005
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          28015..28020
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          28021..28027
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          28036..28044
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          28047..28057
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          28061..28145
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(28061,28126,28141)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          28158..28241
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(28158,28222,28237)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          28269..28349
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          28269..28272
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          28277..28283
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          28289..28295
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          28307..28312
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          28313..28319
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          28328..28336
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          28339..28349
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          28353..28445
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(28353,28419,28434)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(28435..28436,28438..28439)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          28453..28545
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(28453,28519,28534)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(28535..28536,28538..28539)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          28552..28648
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(28636,28638,28640..28641)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          28669..28749
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          28677..28681
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          28690..28694
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          28715..28719
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          28729..28734
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          28742..28745
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          28753..28844
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(28753,28818,28833)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(28834..28835,28837..28838)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          28852..28945
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(28852,28919,28934)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(28935..28936,28938..28939)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          28954..29044
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(28954,29021,29036)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(29037..29038,29040..29041)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          29067..29146
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          29067..29071
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          29076..29082
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          29088..29094
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          29104..29109
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          29110..29116
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          29125..29133
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          29136..29146
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          29150..29241
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(29150,29215,29230)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(29231..29232,29234..29235)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          29247..29340
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(29247,29313,29328)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(29329..29330,29332..29333)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          29359..29440
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          29359..29363
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          29368..29374
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          29380..29386
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          29398..29403
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          29404..29410
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          29419..29427
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          29430..29440
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          29444..29535
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(29444,29510,29525)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(29526..29527,29529..29530)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          29544..29633
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(29544,29610,29625)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(29626..29627,29629..29630)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          29645..29732
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(29645,29711,29726)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(29727..29728,29730..29731)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          29758..29836
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          29758..29761
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          29766..29772
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          29778..29784
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          29794..29799
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          29800..29806
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          29815..29823
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          29826..29836
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          29840..29933
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(29840,29906,29921)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(29922..29923,29925..29926)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          29950..30035
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(30024..30025,30027..30028)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          30043..30128
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(30043,30109,30124)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          30145..30232
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          30162..30166
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          30175..30179
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          30200..30204
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          30214..30219
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          30227..30230
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          30254..30329
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          30258..30262
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          30271..30275
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          30296..30300
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          30311..30316
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          30324..30327
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          30335..30428
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(30335,30402,30417)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(30418..30419,30421..30422)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          30437..30530
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(30437,30503,30518)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(30519..30520,30522..30523)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          30540..30632
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          30557..30561
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          30570..30574
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          30597..30601
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          30611..30616
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          30624..30627
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          30649..30730
                     /region_name="Ig_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of titin and
                     similar proteins; cd05748"
                     /db_xref="CDD:409406"
     Region          30649..30652
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409406"
     Region          30657..30663
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409406"
     Region          30669..30675
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409406"
     Region          30687..30692
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409406"
     Region          30693..30699
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409406"
     Region          30709..30717
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409406"
     Region          30720..30730
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409406"
     Region          30734..30824
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(30734,30798,30813)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(30814..30815,30817..30818)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          30862..31138
                     /region_name="STKc_Titin"
                     /note="Catalytic domain of the Giant Serine/Threonine
                     Kinase Titin; cd14104"
                     /db_xref="CDD:271006"
     Site            order(30869..30873,30875,30877,30890,30892,30920,
                     30936..30937,30939,30943,30945,30983,30985,30987..30988,
                     30990,31002..31003,31006,31021..31024)
                     /site_type="active"
                     /db_xref="CDD:271006"
     Site            order(30869..30873,30875,30877,30890,30892,30920,
                     30936..30937,30939,30943,30987..30988,30990,31002..31003)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271006"
     Site            order(30873,30943,30945,30983,30985,30987,31006,
                     31021..31024)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271006"
     Site            31002..31024
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271006"
     Region          31181..31270
                     /region_name="IgI_Titin_M1-like"
                     /note="Immunoglobulin-like M1 domain from Titin; a member
                     of the I-set of IgSF domains; cd20927"
                     /db_xref="CDD:409521"
     Region          31182..31185
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409521"
     Region          31188..31191
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409521"
     Region          31195..31204
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409521"
     Region          31210..31216
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409521"
     Region          31218..31221
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409521"
     Region          31227..31232
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409521"
     Region          31236..31242
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409521"
     Region          31249..31257
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409521"
     Region          31260..31269
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409521"
     Region          31302..31394
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          31319..31323
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          31332..31336
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          31360..31364
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          31374..31379
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          31387..31390
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          31407..31497
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          31424..31428
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          31437..31441
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          31463..31467
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          31477..31482
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          31490..31493
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          31986..32075
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          32003..32007
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          32016..32020
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          32041..32045
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          32055..32060
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          32068..32071
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          32170..32261
                     /region_name="IgI_Titin_like"
                     /note="Immunoglobulin (Ig)-like domain of human titin C
                     terminus and similar proteins; member of the I-set of Ig
                     superfamily (IgSF) domains; cd05747"
                     /db_xref="CDD:143224"
     Region          32172..32179
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:143224"
     Region          32180..32185
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:143224"
     Region          32190..32198
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:143224"
     Region          32202..32208
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:143224"
     Region          32210..32212
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:143224"
     Region          32218..32224
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:143224"
     Region          32227..32233
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:143224"
     Region          32242..32249
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:143224"
     Region          32252..32261
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:143224"
     Region          32330..32417
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          32345..32349
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          32360..32364
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          32386..32390
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          32400..32405
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          32464..32553
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          32494..32498
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          32516..32523
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          32533..32538
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          32547..32550
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          32660..32732
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          32668..32672
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          32679..32683
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          32704..32708
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          32746..32835
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          32763..32767
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          32776..32780
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          32801..32805
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          32815..32820
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          32828..32831
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          32941..33032
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          32958..32962
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          32971..32975
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          32998..33002
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          33012..33017
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          33025..33028
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..33035
                     /gene="TTN"
                     /gene_synonym="CMD1G; CMH9; CMPD4; EOMFC; HMERF; LGMD2J;
                     LGMDR10; MYLK5; SALMY; TMD"
                     /coded_by="XM_024453098.1:226..99333"
                     /db_xref="GeneID:7273"
                     /db_xref="HGNC:HGNC:12403"
                     /db_xref="MIM:188840"
ORIGIN      
        1 mttqaptftq plqsvvvleg statfeahis gfpvpevswf rdgqvistst lpgvqisfsd
       61 grakltipav tkansgrysl katngsgqat staellvkae tappnfvqrl qsmtvrqgsq
      121 vrlqvrvtgi ptpvvkfyrd gaeiqssldf qisqegdlys lliaeayped sgtysvnatn
      181 svgratstae llvqgeeevp akktktivst aqisesrqtr iekkieahfd arsiatvemv
      241 idgaagqqlp hktpprippk pksrsptpps iaakaqlarq qspspirhsp spvrhvrapt
      301 pspvrsvspa aristspirs vrspllmrkt qastvatgpe vpppwkqegy vassseaemr
      361 ettlttstqi rteerwegry gvqeqvtisg aagaaasvsa sasyaaeava tgakevkqda
      421 dksaavatvv aavdmarvre pvisaveqta qrttttavhi qpaqeqqvrk eaektavtkv
      481 vvaadkakeq elksrtkevi ttkqeqmhvt heqirketek tfvpkvvisa akakeqetri
      541 seeitkkqkq vtqeairqet eitaasmvvv atakstklet vpgaqeettt qqdqmhlsye
      601 kimketrktv vpkvivatpk vkeqdlvsrg regittkreq vqitqekmrk eaektalsti
      661 avatakakeq etilrtretm atrqeqiqvt hgkvdvgkka eavatvvaav dqarvrepre
      721 pghleesyaq qttleygyke risaakvaep pqrpasephv vpkavkprvi qapsethikt
      781 tdqkgmhiss qikkttdltt erlvhvdkrp rtasphftvs kisvpktehg yeasiagsai
      841 atlqkelsat ssaqkitksv kaptvkpset rvraeptplp qfpfadtpdt ykseagvevk
      901 kevgvsitgt tvreerfevl hgreakvtet arvpapveip vtpptlvsgl knvtvieges
      961 vtlechisgy psptvtwyre dyqiessidf qitfqsgiar lmireafaed sgrftcsavn
     1021 eagtvstscy lavqvseefe kettavtekf tteekrfves rdvvmtdtsl teeqagpgep
     1081 aapyfitkpv vqklveggsv vfgcqvggnp kphvywkksg vplttgyryk vsynkqtgec
     1141 klvismtfad dageytivvr nkhgetsasa slleeadyel lmksqqemly qtqvtafvqe
     1201 pkvgetapgf vyseyekeye keqalirkkm akdtvvvrty vedqefhiss feerlikeie
     1261 yriikttlee lleedgeekm avdiseseav esgfdsrikn yrilegmgvt fhckmsgypl
     1321 pkiawykdgk rikhgeryqm dflqdgrasl ripvvlpede giytafasni kgnaicsgkl
     1381 yvepaaplga ptyiptlepv srirslsprs vsrspirmsp armsparmsp armsparmsp
     1441 grrleetdes qlerlykpvf vlkpvsfkcl egqtarfdlk vvgrpmpetf wfhdgqqivn
     1501 dythkvvike dgtqsliivp atpsdsgewt vvaqnragrs sisviltvea vehqvkpmfv
     1561 eklknvnike gsrlemkvra tgnpnpdivw lknsdiivph kypkiriegt kgeaalkids
     1621 tvsqdsawyt atainkagrd ttrckvnvev efaepeperk liiprgtyra keiaapelep
     1681 lhlrygqeqw eegdlydkek qqkpffkkkl tslrlkrfgp ahfecrltpi gdptmvvewl
     1741 hdgkpleaan rlrminefgy csldygvays rdsgiitcra tnkygtdhts atlivkdeks
     1801 lveesqlpeg rkglqrieel ermahegalt gvttdqkekq kpdivlypep vrvlegetar
     1861 frcrvtgypq pkvnwylngq lirkskrfrv rydgihyldi vdcksydtge vkvtaenpeg
     1921 viehkvklei qqredfrsvl rrapeprpef hvhepgklqf evqkvdrpvd ttetkevvkl
     1981 kraerithek vpeeseelrs kfkrrteegy yeaitavelk srkkdesyee llrktkdell
     2041 hwtkelteee kkalaeegki tiptfkpdki elspsmeapk iferiqsqtv gqgsdahfrv
     2101 rvvgkpdpec ewykngvkie rsdriywywp ednvcelvir dvtaedsasi mvkainiage
     2161 tsshafllvq akqlitftqe lqdvvakekd tmatfecets epfvkvkwyk dgmevhegdk
     2221 yrmhsdrkvh flsiltidts daedyscvlv edenvkttak livegavvef vkelqdievp
     2281 esysgeleci vspeniegkw yhndvelksn gkytitsrrg rqnltvkdvt kedqgeysfv
     2341 idgkkttckl kmkprpiail qglsdqkvce gdivqlevkv slesvegvwm kdgqevqpsd
     2401 rvhividkqs hmlliedmtk edagnysfti palglstsgr vsvysvdvit plkdvnvieg
     2461 tkavleckvs vpdvtsvkwy lndeqikpdd rvqaivkgtk qrlvinrtha sdegpykliv
     2521 grvetncnls vekikiirgl rdltctetqn vvfevelshs gidvlwnfkd keikpsskyk
     2581 ieahgkiykl tvlnmmkdde gkytfyagen mtsgkltvag gaiskpltdq tvaesqeavf
     2641 ecevanpdsk gewlrdgkhl pltnnirses dghkrrliia atklddigey tykvatskts
     2701 aklkveavki kktlknltvt etqdavftve lthpnvkgvq wikngvvles nekyaisvkg
     2761 tiyslriknc aivdesvygf rlgrlgasar lhvetvkiik kpkdvtalen atvafevsvs
     2821 hdtvpvkwfh ksveikpsdk hrlvserkvh klmlqnisps dageytavvg qleckaklfv
     2881 etlhitktmk nievpetkta sfecevshfn vpsmwlkngv eiemsekfki vvqgklhqli
     2941 imntstedsa eytfvcgndq vsatltvtpi mitsmlkdin aeekdtitfe vtvnyegisy
     3001 kwlkngveik stdkcqmrtk klthslnirn vhfgdaadyt fvagkatsta tlyvearhie
     3061 frkhikdikv lekkramfec evsepditvq wmkddqelqi tdrikiqkek yvhrllipst
     3121 rmsdagkytv vaggnvstak lfvegrdvri rsikkevqvi ekqravvefe vneddvdahw
     3181 ykdgieinfq vqerhkyvve rrihrmfise trqsdageyt fvagrnrssv tlyvnapepp
     3241 qvlqelqpvt vqsgkparfc avisgrpqpk iswykeeqll stgfkckflh dgqeytllli
     3301 eafpedaavy tceakndygv attsaslsve vpevvspdqe mpvyppaiit plqdtvtseg
     3361 qparfqcrvs gtdlkvswys kdkkikpsrf frmtqfedty qleiaeaype degtytfvas
     3421 navgqvssta nlsleapesi lherieqeie memkefsssf lsaeeeglhs aelqlskine
     3481 tlellsespv yptkfdseke gtgpifikev snadismgdv atlsvtvigi pkpkiqwffn
     3541 gvlltpsady kfvfdgddhs liilftkled egeytcmasn dygkticsay lkinskgegh
     3601 kdtetesava ksleklggpc pphflkelkp ircaqglpai feytvvgepa ptvtwfkenk
     3661 qlctsvyyti ihnpngsgtf ivndpqreds glyickaenm lgestcaael lvlledtdmt
     3721 dtpckakstp eapedfpqtp lkgpaveald seqeiatfvk dtilkaalit eenqqlsyeh
     3781 iakanelssq lplgaqelqs ileqdkltpe streflcing sihfqplkep spnlqlqivq
     3841 sqktfskegi lmpeepetqa vlsdtekifp samsieqins ltveplktll aepegnypqs
     3901 sieppmhsyl tsvaeevlsp kektvsdtnr eqrvtlqkqe aqsalilsqs laeghveslq
     3961 spdvmisqvn yeplvpsehs cteggkilie sanplenagq dsavrieegk slrfplalee
     4021 kqvllkeehs dnvvmppdqi ieskrepvai kkvqevqgrd llskesllsg ipeeqrlnlk
     4081 iqicralqaa vaseqpglfs ewlrniekve veavnitqep rhimcmylvt saksvteevt
     4141 iiiedvdpqm anlkmelrda lcaiiyeeid iltaegpriq qgaktslqee mdsfsgsqkv
     4201 epitepeves kylisteevs yfnvqsrvky ldatpvtkgv asavvsdekq deslkpseek
     4261 eesssesgte evatvkiqea egglikedgp mihtplvdtv seegdivhlt tsitnakevn
     4321 wyfenklvps dekfkclqdq ntytlvidkv ntedhqgeyv cealndsgkt atsakltvvk
     4381 raapvikrki eplevalghl akftceiqsa pnvrfqwfka greiyesdkc sirsskyiss
     4441 leilrtqvvd cgeytckasn eygsvsctat ltvteayppt flsrpksltt fvgkaakfic
     4501 tvtgtpviet iwqkdgaals pspnwrisda enkhilelsn ltiqdrgvys ckasnkfgad
     4561 icqaeliiid kphfikelep vqsainkkvh lecqvdedrk vtvtwskdgq klppgkdyki
     4621 cfedkiatle iplaklkdsg tyvctasnea gssscsatvt vreppsfvkk vdpsylmlpg
     4681 esarlhcklk gspviqvtwf knnkelsesn tvrmyfvnse ailditdvkv edsgsyscea
     4741 vndvgsdscs teivikepps fiktlepadi vrgtnallqc evsgtgpfei swfkdkkqir
     4801 sskkyrlfsq kslvcleifs fnsadvgeye cvvanevgkc gcmathllke pptfvkkvdd
     4861 lialggqtvt lqaavrgsep isvtwmkgqe viredgkikm sfsngvavli ipdvqisfgg
     4921 kytclaenea gsqtsvgeli vkepakiier aeliqvtagd patleytvag tpelkpkwyk
     4981 dgrplvaskk yrisfknnva qlkfysaelh dsgqytfeis nevgssscet tftvldrdia
     5041 pfftkplrnv dsvvngtcrl dckiagslpm rvswfkdgke iaasdryria fvegtaslei
     5101 irvdmndagn ftcratnsvg skdssgaliv qeppsfvtkp gskdvlpgsa vclkstfqgs
     5161 tpltirwfkg nkelvsggsc yitkealess lelylvktsd sgtytckvsn vaggvecsan
     5221 lfvkepatfv eklepsqllk kgdatqlack vtgtppikit wfandreike sskhrmsfve
     5281 stavlrltdv giedsgeymc eaqneagsdh cssivivkes pyftkefkpi evlkeydvml
     5341 laevagtppf eitwfkdnti lrsgrkyktf iqdhlvslqi lkfvaadage yqcrvtnevg
     5401 ssicsarvtl reppsfikki estsslrggt aafqatlkgs lpitvtwlkd sdeiteddni
     5461 rmtfennvas lylsgievkh dgkyvcqakn dagiqrcsal lsvkepatit eeavsidvtq
     5521 gdpatlqvkf sgtkeitakw fkdgqeltlg skykisvtdt vsilkiiste kkdsgeytfe
     5581 vqndvgrssc karinvldli ippsftkklk kmdsikgsfi dlecivagsh pisiqwfkdd
     5641 qeisasekyk fsfhdntafl eisqlegtds gtytcsatnk aghnqcsghl tvkeppyfve
     5701 kpqsqdvnpn trvqlkalvg gtapmtikwf kdnkelhsga arsvwkddts tslelfaaka
     5761 tdsgtyicql sndvgtatsk atlfvkeppq fikkpspvlv lrngqsttfe cqitgtpkir
     5821 vswyldgnei taiqkhgisf idglatfqis garvensgty vcearndagt ascsielkvk
     5881 epptfirelk pvevvkysdv elecevtgtp pfevtwlknn reirsskkyt ltdrvsvfnl
     5941 hitkcdpsdt geyqcivsne ggscscstrv alkeppsfik kientttvlk ssatfqstva
     6001 gsppisitwl kddqildedd nvyisfvdsv atlqirsvdn ghsgrytcqa knesgvercy
     6061 afllvqepaq ivekaksvdv tekdpmtlec vvagtpelkv kwlkdgkqiv psryfsmsfe
     6121 nnvasfriqs vmkqdsgqyt fkvendfgss scdaylrvld qnippsftkk ltkmdkvlgs
     6181 sihmeckvsg slpisaqwfk dgkeistsak yrlvchersv slevnnlele dtanytckvs
     6241 nvagddacsg iltvkeppsf lvkpgrqqai pdstvefkai lkgtppfkik wfkddvelvs
     6301 gpkcfigleg stsflnlysv dasktgqytc hvtndvgsds cttmllvtep pkfvkkleas
     6361 kivkagdssr leckiagspe irvvwfrneh elpasdkyrm tfidsvaviq mnnlstedsg
     6421 dficeaqnpa gstscstkvi vkeppvfssf ppivetlkna evslecelsg tppfevvwyk
     6481 dkrqlrsskk ykiasknfht sihilnvdts digeyhckaq nevgsdtcvc tvklkepprf
     6541 vsklnsltvv agepaelqas iegaqpifvq wlkekeevir eseniritfv envatlqfak
     6601 aepanagkyi cqikndggmr enmatlmvle pavivekagp mtvtvgetct leckvagtpe
     6661 lsvewykdgk lltssqkhkf sfynkisslr ilsverqdag tytfqvqnnv gkssctavvd
     6721 vsdravppsf trrlkntggv lgascileck vagsspisva wfhektkivs gakyqttfsd
     6781 nvctlqlnsl dssdmgnytc vaanvagsde cravltvqep psfvkepepl evlpgknvtf
     6841 tsvirgtppf kvnwfrgare lvkgdrcniy fedtvaelel fnidisqsge ytcvvsnnag
     6901 qascttrlfv kepaaflkrl sdhsvepgks iilestytgt lpisvtwkkd gfnittsekc
     6961 nivttektci leilnstkrd agqysceien eagrdvcgal vstleppyfv telepleaav
     7021 gdsvslqcqv agtpeitvsw ykgdtklrpt peyrtyftnn vatlvfnkvn indsgeytck
     7081 aensigtass ktvfriqerq lppsfarqlk dieqtvglpv tltcrlngsa piqvcwyrdg
     7141 vllrddenlq tsfvdnvatl kilqtdlshs gqyscsasnp lgtasssarl tarepkkspf
     7201 fdikpvsidv iagesadfec hvtgaqpmri twskdnkeir pggnytitcv gntphlrilk
     7261 vgkgdsgqyt cqatndvgkd mcsaqlsvke ppkfvkklea skvakqgesi qleckisgsp
     7321 eikvswfrnd selheswkyn msfinsvall tineasaeds gdyiceahng vgdascstal
     7381 tvkappvftq kpspvgalkg sdvilqceis gtppfevvwv kdrkqvrnsk kfkitskhfd
     7441 tslhilnlea sdvgeyhcka tnevgsdtcs csvkfkeppr fvkklsdtst ligdavelra
     7501 ivegfqpisv vwlkdrgevi resentrisf idniatlqlg speasnsgky icqikndagm
     7561 recsavltvl epariiekpe pmtvttgnpf alecvvtgtp elsakwfkdg relsadskhh
     7621 itfinkvasl kipcaemsdk glysfevkns vgksnctvsv hvsdrivpps firklkdvna
     7681 ilgasvvlec rvsgsapisv gwfqdgneiv sgpkcqssfs envctlnlsl lepsdtgiyt
     7741 cvaanvagsd ecsavltvqe ppsfeqtpds vevlpgmslt ftsvirgtpp fkvkwfkgsr
     7801 elvpgescni sledfvtele lfevqplesg dysclvtnda gsasctthlf vkepatfvkr
     7861 ladfsvetgs pivleatytg tppisvswik deylisqser csitmtekst ileilestie
     7921 dyaqysclie neagqdicea lvsvleppyf ieplehveav igepatlqck vdgtpeiris
     7981 wykehtklrs apaykmqfkn nvaslvinkv dhsdvgeysc kadnsvgava ssavlvikar
     8041 klppffarkl kdvhetlgfp vafecrings eplqvswykd gvllkddanl qtsfvhnvat
     8101 lqilqtdqsh igqyncsasn plgtasssak lilsehevpp ffdlkpvsvd lalgesgtfk
     8161 chvtgtapik itwakdnrei rpggnykmtl ventatltvl kvgkgdagqy tcyasniagk
     8221 dscsaqlgvq epprfikkle psrivkqdef tryeckiggs peikvlwykd eteiqesskf
     8281 rmsfvdsvav lemhnlsved sgdytceahn aagsasssts lkvkeppifr kkphpietlk
     8341 gadvhlecel qgtppfhvsw ykdkrelrsg kkykimsenf ltsihilnvd aadigeyqck
     8401 atndvgsdtc vgsialkapp rfvkklsdis tvvgkevqlq ttiegaepis vvwfkdkgei
     8461 vresdniwis yseniatlqf srvepanagk ytcqikndag mqecfatlsv lepativekp
     8521 esikvttgdt ctlectvagt pelstkwfkd gkeltsdnky kisffnkvsg lkiinvapsd
     8581 sgvysfevqn pvgkdsctas lqvsdrtvpp sftrklketn glsgssvvme ckvygsppis
     8641 vswfhegnei ssgrkyqttl tdntcaltvn mleesdsgdy tciatnmags decsapltvr
     8701 eppsfvqkpd pmdvltgtnv tftsivkgtp pfsvswfkgs selvpgdrcn vsledsvael
     8761 elfdvdtsqs geytcivsne agkasctthl yikapakfvk rlndysiekg kplilegtft
     8821 gtppisvtwk knginvtpsq rcnittteks aileipsstv edagqyncyi enasgkdscs
     8881 aqilileppy fvkqlepvkv svgdsaslqc qlagtpeigv swykgdtklr ptttykmhfr
     8941 nnvatlvfnq vdindsgeyi ckaensvgev sastfltvqe qklppsfsrq lrdvqetvgl
     9001 pvvfdcaisg sepisvswyk dgkplkdspn vqtsfldnta tlnifktdrs lagqysctat
     9061 npigsasssa rliltegknp pffdirlapv davvgesadf echvtgtqpi kvswakdsre
     9121 irsggkyqis ylensahltv lkvdkgdsgq ytcyavnevg kdsctaqlni kerlippsft
     9181 krlsetveet egnsfklegr vagsqpitva wyknnieiqp tsnceitfkn ntlvlqvrka
     9241 gmndaglytc kvsndagsal ctssivikep kkppvfdqhl tpvtvsegey vqlschvqgs
     9301 epiriqwlka greikpsdrc sfsfasgtav lelrdvakad sgdyvckasn vagsdttksk
     9361 vtikdkpava patkkaavdg rlffvsepqs irvvekttat fiakvggdpi pnvkwtkgkw
     9421 rqlnqggrvf ihqkgdeakl eirdttktds glyrcvafne hgeiesnvnl qvderkkqek
     9481 iegdlramlk ktpilkkgag eeeeidimel lknvdpkeye kyarmygitd frgllqafel
     9541 lkqsqeeeth rleieeiers erdekefeel vsfiqqrlsq tepvtlikdi enqtvlkdnd
     9601 avfeidikin ypeiklswyk gteklepsdk feisidgdrh tlrvkncqlk dqgnyrlvcg
     9661 phiasakltv iepawerhlq dvtlkegqtc tmtcqfsvpn vksewfrngr ilkpqgrhkt
     9721 evehkvhklt iadvraedqg qytckyedle tsaelrieae piqftkriqn ivvsehqsat
     9781 fecevsfdda ivtwykgpte ltesqkynfr ndgrchymti hnvtpddegv ysviarlepr
     9841 gearstaely lttkeiklel kppdipdsrv piptmpirav ppeeippvva ppiplllptp
     9901 eekkpppkri evtkkavkkd akkvvakpke mtpreeivkk ppppttlipa kapeiidvss
     9961 kaeevkimti trkkevqkek eavyekkqav hkekrvfies feepydelev epytepfeqp
    10021 yyeepdedye eikveakkev heeweedfee gqeyyereeg ydegeeewee ayqereviqv
    10081 qkevyeeshe rkvpakvpek kappppkvik kpviekiekt srrmeeekvq vtkvpevskk
    10141 ivpqkpsrtp vqeevievkv pavhtkkmvi seekmffash teeevsvtvp evqkeivtee
    10201 kihvaiskrv epppkvpelp ekpapeevap vpipkkvepp apkvpevpkk pvpeekkpvp
    10261 vpkkepaapp kvpevpkkpv peekipvpva kkkeappake vtimeekera ytleeeavsv
    10321 qreeeyeeye eydykefeey epteeydqye eyeereyery eeheeyitep ekpipvkpvp
    10381 eepvptkpka ppakvpevpk kpvpeekvpv pvpkkveapp akvpevpkkp vpekkvpvpa
    10441 pkkveappak vpevpkklip eekkptpvpk kveapppkvt eepeeepise eeipeeppsi
    10501 eeveevappr vpevikkavp eaptpvpkkv eappakvpgg ekkvrkllpe rkpepkeevv
    10561 lksvlrkrpe eeepkvepkk lekvkkpavp eppppkpvee vevptvtkre rkipeptkvp
    10621 eikpaiplpa pepkpkpeae vktikpppve peptpiaapv tvpvvgkkae akapkeeaak
    10681 pkgpikgvpk ktpspieaer rklrpgsgge kppdeapfty qlkavplkfv keikdiilte
    10741 sefvgssaif eclvspstai ttwmkdgsni respkhrfia dgkdrklhii dvqlsdagey
    10801 tcvlrlgnke ktstaklvve elpvrfvktl eeevtvvkgq plylscelnk erdvvwrkdg
    10861 kivvekpgri vpgviglmra ltindaddtd agtytvtven annlecsscv kvvevirdwl
    10921 vkpirdqhvk pkgtaifacd iakdtpnikw fkgydeipae pndkteilrd gnhlylkikn
    10981 ampediaeya veiegkrypa kltlgereve llkpiedvti yekesasfda eiseadipgq
    11041 wklkgellrp sptceikaeg gkrfltlhkv kldqagevly qalnaittai ltvkeieldf
    11101 avplkdvtvp errqarfecv ltreanviws kgpdiikssd kfdiiadgkk hilvindsqf
    11161 ddegvytaev egkktsarlf vtgirlkfms pledqtvkeg etatfvcels hekmhvvwfk
    11221 ndaklhtsrt vlissegkth klemkevtld disqikaqvk elsstaqlkv leadpyftvk
    11281 lhdktavekd eitlkcevsk dvpvkwfkdg eeivpspkys ikadglrril kikkadlkdk
    11341 geyvcdcgtd ktkanvtvea rlikvekply gvevfvgeta hfeielsepd vhgqwklkgq
    11401 pltaspdcei iedgkkhili lhncqlgmtg evsfqaanak saanlkvkel plifitplsd
    11461 vkvfekdeak fecevsrepk tfrwlkgtqe itgddrfeli kdgtkhsmvi ksaafedeak
    11521 ymfeaedkht sgkliiegir lkfltplkdv takekesavf tvelshdnir vkwfkndqrl
    11581 httrsvsmqd egkthsitfk dlsiddtsqi rveamgmsse akltvlegdp yftgklqdyt
    11641 gvekdevilq ceiskadapv kwfkdgkeik psknavikad gkkrmlilkk alksdigqyt
    11701 cdcgtdktsg kldiedreik lvrplhsvev metetarfet eiseddihan wklkgeallq
    11761 tpdceikeeg kihslvlhnc rldqtggvdf qaanvkssah lrvkprvigl lrplkdvtvt
    11821 agetatfdce lsyedipvew ylkgkkleps dkvvprsegk vhtltlrdvk ledagevqlt
    11881 akdfkthanl fvkeppveft kpledqtvee gatavlecev srenakvkwf kngteilksk
    11941 kyeivadgrv rklvihdctp ediktytcda kdfktscnln vvpphveflr pltdlqvrek
    12001 emarfecels renakvkwfk dgaeikkgkk ydiiskgavr ilvinkclld deaeyscevr
    12061 tartsgmltv leeeavftkn lanievsetd tiklvcevsk pgaeviwykg deeiietgry
    12121 eiltegrkri lviqnahled agnyncrlps srtdgkvkvh elaaefiskp qnleilegek
    12181 aefvcsiske sfpvqwkrdd ktlesgdkyd viadgkkrvl vvkdatlqdm gtyvvmvgaa
    12241 raaahltvie klrivvplkd trvkeqqevv fncevntega kakwfrneea ifdsskyiil
    12301 qkdlvytlri rdahlddqan ynvsltnhrg envksaanli veeedlrive plkdietmek
    12361 ksvtfwckvn rlnvtlkwtk ngeevpfdnr vsyrvdkykh mltikdcgfp degeyivtag
    12421 qdksvaelli ieaptefveh ledqtvtefd davfscqlsr ekanvkwyrn greikegkky
    12481 kfekdgsihr liikdcrldd eceyacgved rksrarlfve eipveiirpp qdileapgad
    12541 vvflaelnkd kvevqwlrnn mvvvqgdkhq mmsegkihrl qicdikprdq geyrfiakdk
    12601 earaklelaa apkiktadqd lvvdvgkplt mvvpydaypk aeaewfkene plstktidtt
    12661 aeqtsfrile akkgdkgryk ivlqnkhgka egfinlkvid vpgpvrnlev tetfdgevsl
    12721 aweepltdgg skiigyvver rdikrktwvl atdraescef tvtglqkggv eylfrvsarn
    12781 rvgtgepvet dnpvearsky dvpgpplnvt itdvnrfgvs ltweppeydg gaeitnyvie
    12841 lrdktsirwd tamtvraedl satvtdvveg qeysfrvraq nrigvgkpsa atpfvkvadp
    12901 ierpsppvnl tssdqtqssv qlkwepplkd ggspilgyii erceegkdnw ircnmklvpe
    12961 ltykvtglek gnkylyrvsa enkagvsdps eilgpltadd afveptmdls afkdgleviv
    13021 pnpitilvps tgyprptatw cfgdkvletg drvkmktlsa yaelvispse rsdkgiytlk
    13081 lenrvktisg eidvnviarp sapkelkfgd itkdsvhltw eppdddggsp ltgyvvekre
    13141 vsrktwtkvm dfvtdleftv pdlvqgkeyl fkvcarnkcg pgepayvdep vnmstpatvp
    13201 dppenvkwrd rtansifltw dppkndggsr ikgyivercp rgsdkwvacg epvaetkmev
    13261 tgleegkwya yrvkalnrqg askpsrptee iqavdtqeap eifldvklla gltvkagtki
    13321 elpatvtgkp epkitwtkad milkqdkrit ienvpkkstv tivdskrsdt gtyiieavnv
    13381 cgratavvev nvldkpgppa afditdvtne sclltwnppr ddggskitny vverratdse
    13441 vwhklsstvk dtnfkatkli pnkeyifrva aenmygvgep vqaspitaky qfdppgpptr
    13501 lepsditkda vtltwcepdd dggspitgyw verldpdtdk wvrcnkmpvk dttyrvkglt
    13561 nkkkyrfrvl aenlagpgkp skstepilik dpidppwppg kptvkdvgkt svrlnwtkpe
    13621 hdggakiesy viemlktgtd ewvrvaegvp ttqhllpglm egqeysfrvr avnkagesep
    13681 sepsdpvlcr eklyppsppr wlevinitkn tadlkwtvpe kdggspitny ivekrdvrrk
    13741 gwqtvdttvk dtkctvtplt egslyvfrva aenaigqsdy teiedsvlak dtfttpgppy
    13801 alavvdvtkr hvdlkweppk ndggrpiqry viekkerlgt rwvkagktag pdcnfrvtdv
    13861 iegtevqfqv raeneagvgh psepteilsi edptsppspp ldlhvtdagr khiaiawkpp
    13921 eknggspiig yhvemcpvgt ekwmrvnsrp ikdlkfkvee gvvpdkeyvl rvravnaigv
    13981 sepseisenv vakdpdckpt idlethdiiv iegeklsipv pfravpvptv swhkdgkevk
    14041 asdrltmknd hisahlevpk svradagiyt itlenklgsa tasinvkvig lpgpckdika
    14101 sditkssckl tweppefdgg tpilhyvler reagrrtyip vmsgenklsw tvkdlipnge
    14161 yffrvkavnk vgggeyielk npviaqdpkq ppdppvdvev hnptaeamti twkpplydgg
    14221 skimgyiiek iakgeerwkr cnehlvpilt ytakgleegk eyqfrvraen aagisepsra
    14281 tpptkavdpi dapkvilrts levkrgdeia ldasisgspy ptitwikden vivpeeikkr
    14341 aaplvrrrkg evqeeepfvl pltqrlsidn skkgesqlrv rdslrpdhgl ymikvendhg
    14401 iakapctvsv ldtpgppinf vfedirktsv lckweppldd ggseiinytl ekkdktkpds
    14461 ewivvtstlr hckysvtkli egkeylfrvr aenrfgpgpp cvskplvakd pfgppdapdk
    14521 pivedvtsns mlvkwnepkd ngspilgywl ekrevnsthw srvnksllna lkanvdglle
    14581 gltyvfrvca enaagpgkfs ppsdpktahd pisppgppip rvtdtsstti eleweppafn
    14641 gggeivgyfv dkqlvgtnew srctekmikv rqytvkeire gadyklrvsa vnaagegppg
    14701 etqpvtvaep qeppaveldv svkggiqima gktlripavv tgrpvptkvw tkeegeldkd
    14761 rvvidnvgtk seliikdalr kdhgryvita tnscgskfaa arvevfdvpg pvldlkpvvt
    14821 nrkmcllnws dpeddggsei tgfiierkda kmhtwrqpie terskcditg llegqeykfr
    14881 viaknkfgcg ppveigpila vdplgpptsp erltytertk stitldwkep rsnggspiqg
    14941 yiiekrrhdk pdfervnkrl cpttsflven ldehqmyefr vkavneiges epslplnvvi
    15001 qddevpptik lrlsvrgdti kvkagepvhi padvtglpmp kiewsknetv iekptdalqi
    15061 tkeevsrsea ktelsipkav redkgtytvt asnrlgsvfr nvhvevydrp spprnlavtd
    15121 ikaescyltw dapldnggse ithyvidkrd asrkkaewee vtntavekry giwklipngq
    15181 yefrvravnk ygisdecksd kvviqdpyrl pgppgkpkvl artkgsmlvs wtppldnggs
    15241 pitgywlekr eegspywsrv srapitkvgl kgvefnvprl legvkyqfra mainaagigp
    15301 psepsdpeva gdpifppgpp scpevkdktk ssislgwkpp akdggspikg yivemqeegt
    15361 tdwkrvnepd klittcecvv pnlkelrkyr frvkavneag esepsdttge ipatdiqeep
    15421 evfidigaqd clvckagsqi ripavikgrp tpksswefdg kakkamkdgv hdipedaqle
    15481 taenssviii peckrshtgk ysitaknkag qktancrvkv mdvpgppkdl kvsditrgsc
    15541 rlswkmpddd ggdrikgyvi ekrtidgkaw tkvnpdcgst tfvvpdllse qqyffrvrae
    15601 nrfgigppve tiqrttardp iyppdppikl kiglitkntv hlswkppknd ggspvthyiv
    15661 eclawdptgt kkeawrqcnk rdveelqftv edlveggeye frvkavnaag vskpsatvgp
    15721 vtvkdqtcpp sidlkefmev eegtnvniva kikgvpfptl twfkappkkp dnkepvlydt
    15781 hvnklvvddt ctlvipqsrr sdtglytita vnnlgtaske mrlnvlgrpg ppvgpikfes
    15841 vsadqmtlsw fppkddggsk itnyviekre anrktwvhvs sepkectyti pkllegheyv
    15901 frimaqnkyg igepldsepe tarnlfsvpg apdkptvssv trnsmtvnwe epeydggspv
    15961 tgywlemkdt tskrwkrvnr dpikamtlgv sykvtglieg sdyqfrvyai naagvgpasl
    16021 psdpatardp iappgppfpk vtdwtkssad lewspplkdg gskvtgyive ykeegkeewe
    16081 kgkdkevrgt klvvtglkeg afykfrvrav niagigepge vtdviemkdr lvspdlqlda
    16141 svrdrivvha ggviriiayv sgkppptvtw nmnertlpqe atiettaiss smvikncqrs
    16201 hqgvysllak neagerkkti ivdvldvpgp vgtpflahnl tnesckltwf speddggspi
    16261 tnyviekres drrawtpvty tvtrqnatvq gliqgkayff riaaensigm gpfvetseal
    16321 virepitvpe rpedlevkev tkntvtltwn ppkydggsei inyvlesrli gtekfhkvtn
    16381 dnllsrkytv kglkegdtye yrvsavnivg qgkpsfctkp itckdelapp tlhldfrdkl
    16441 tirvgeafal tgrysgkpkp kvswfkdead vleddrthik ttpatlalek ikakrsdsgk
    16501 ycvvvenstg srkgfcqvnv vdrpgppvgp vsfdevtkdy mviswkppld dggskitnyi
    16561 iekkevgkdv wmpvtsasak ttckvsklle gkdyifriha enlygisdpl vsdsmkakdr
    16621 frvpdapdqp ivtevtkdsa lvtwnkphdg gkpitnyile kretmskrwa rvtkdpihpy
    16681 tkfrvpdlle gcqyefrvsa eneigigdps ppskpvfakd piakpsppvn peaidttcns
    16741 vdltwqpprh dggskilgyi veyqkvgdee wrranhtpes cpetkykvtg lrdgqtykfr
    16801 vlavnaages dpahvpepvl vkdrleppel ildanmareq hikvgdtlrl saiikgvpfp
    16861 kvtwkkedrd aptkaridvt pvgskleirn aahedggiys ltvenpagsk tvsvkvlvld
    16921 kpgpprdlev seirkdscyl twkeplddgg svitnyvver rdvasaqwsp lsatskkksh
    16981 fakhlnegnq ylfrvaaenq ygrgpfvetp kpikaldplh ppgppkdlhh vdvdktevsl
    17041 vwnkpdrdgg spitgylvey qeegtqdwik fktvtnlecv vtglqqgkty rfrvkaeniv
    17101 glglpdttip iecqeklvpp sveldvklie glvvkagttv rfpaiirgvp vptakwttdg
    17161 seiktdehyt vetdnfssvl tiknclrrdt geyqitvsna agsktvavhl tvldvpgppt
    17221 gpinildvtp ehmtiswqpp kddggspvin yivekqdtrk dtwgvvssgs sktklkiphl
    17281 qkgceyvfrv raenkigvgp pldstptvak hkfsppsppg kpvvtditen aatvswtlpk
    17341 sdggspitgy ymerrevtgk wvrvnktpia dlkfrvtgly egntyefrvf aenlaglskp
    17401 spssdpikac rpikppgppi npklkdksre tadlvwtkpl sdggspilgy vvecqkpgta
    17461 qwnrinkdel irqcafrvpg liegneyrfr ikaanivgeg eprelaesvi akdilhppev
    17521 eldvtcrdvi tvrvgqtiri larvkgrpep ditwtkegkv lvrekrvdli qdlprvelqi
    17581 keavradhgk yiisaknssg haqgsaivnv ldrpgpcqnl kvtnvtkenc tiswenpldn
    17641 ggseitnfiv eyrkpnqkgw sivasdvtkr likanllann eyyfrvcaen kvgvgptiet
    17701 ktpilainpi drpgepenlh iadkgktfvy lkwrrpdydg gspnlsyhve rrlkgsddwe
    17761 rvhkgsiket hymvdrcven qiyefrvqtk neggesdwvk teevvvkedl qkpvldlkls
    17821 gvltvkagdt irleagvrgk pfpevawtkd kdatdltrsp rvkidtrads skfsltkakr
    17881 sdggkyvvta tntagsfvay atvnvldkpg pvrnlkivdv ssdrctvcwd ppeddggcei
    17941 qnyilekcet krmvwstysa tvltpgttvt rliegneyif rvraenkigt gppteskpvi
    18001 aktkydkpgr pdppevtkvs keemtvvwnp peydggksit gyflekkekh strwvpvnks
    18061 aiperrmkvq nllpdheyqf rvkaeneigi gepslpsrpv vakdpieppg pptnfrvvdt
    18121 tkhsitlgwg kpvydggapi igyvvemrpk iadaspdegw krcnaaaqlv rkeftvtsld
    18181 enqeyefrvc aqnqvgigrp aelkeaikpk eileppeidl dasmrklviv ragcpirlfa
    18241 ivrgrpapkv twrkvgidnv vrkgqvdlvd tmaflvipns trddsgkysl tlvnpageka
    18301 vfvnvrvldt pgpvsdlkvs dvtktschvs wappendggs qvthyivekr eadrktwstv
    18361 tpevkktsfh vtnlvpgney yfrvtavney gpgvptdvpk pvlasdplse pdpprklevt
    18421 emtknsatla wlpplrdgga kidgyitsyr eeeqpadrwt eysvvkdlsl vvtglkegkk
    18481 ykfrvaarna vgvslpreae gvyeakeqll ppkilmpeqi tikagkklri eahvygkphp
    18541 tckwkkgede vvtsshlavh kadsssilii kdvtrkdsgy ysltaenssg tdtqkikvvv
    18601 mdapgppqpp fdisdidada cslswhiple dggsnitnyi vekcdvsrgd wvtalasvtk
    18661 tscrvgklip gqeyifrvra enrfgisepl tspkmvaqfp fgvpsepkna rvtkvnkdci
    18721 fvawdrpdsd ggspiigyli erkernsllw vkandtlvrs teypcaglve gleysfriya
    18781 lnkagsspps kpteyvtarm pvdppgkpev idvtkstvsl iwarpkhdgg skiigyfvea
    18841 cklpgdkwvr cntaphqipq eeytatglee kaqyqfraia rtavnispps epsdpvtila
    18901 envppridls vamkslltvk agtnvcldat vfgkpmptvs wkkdgtllkp aegikmamqr
    18961 nlctlelfsv nrkdsgdyti taenssgsks atiklkvldk pgppasvkin kmysdramls
    19021 weppledggs eitnyivdkr etsrpnwaqv satvpitscs veklieghey qfricaenky
    19081 gvgdpvftep aiaknpydpp grcdppvisn itkdhmtvsw kppaddggsp itgyllekre
    19141 tqavnwtkvn rkpiiertlk atglqegtey efrvtainka gpgkpsdask aayardpqyp
    19201 pgppafpkvy dttrssvsls wgkpaydggs piigylvevk radsdnwvrc nlpqnlqktr
    19261 fevtglmedt qyqfrvyavn kigysdpsdv pdkhypkdil ippegeldad lrktlilrag
    19321 vtmrlyvpvk grpppkitws kpnvnlrdri gldikstdfd tflrcenvnk ydagkyiltl
    19381 enscgkkeyt ivvkvldtpg ppvnvtvkei skdsayvtwe ppiidggspi inyvvqkrda
    19441 erkswstvtt ecsktsfrva nleegksyff rvfaeneygi gdpgetrdav kasqtpgpvv
    19501 dlkvrsvsks scsigwkkph sdggsriigy vvdflteenk wqrvmkslsl qysakdlteg
    19561 keytfrvsae nengegtpse itvvarddvv apdldlkglp dlcylakens nfrlkipikg
    19621 kpapsvswkk gedplatdtr vsvessavnt tlivydcqks dagkytitlk nvagtkegti
    19681 sikvvgkpgi ptgpikfdev taeamtlkwa ppkddggsei tnyilekrds vnnkwvtcas
    19741 avqkttfrvt rlhegmeytf rvsaenkygv geglksepiv arhpfdvpda ppppnivdvr
    19801 hdsvsltwtd pkktggspit gyhlefkern sllwkrankt pirmrdfkvt gltegleyef
    19861 rvmainlagv gkpslpsepv valdpidppg kpevinitrn svtliwtepk ydgghkltgy
    19921 ivekrdlpsk swmkanhvnv pecaftvtdl veggkyefri rakntagais apsestetii
    19981 ckdeyeapti vldptikdgl tikagdtivl naisilgkpl pksswskagk dirpsditqi
    20041 tstptssmlt ikyatrkdag eytitatnpf gtkvehvkvt vldvpgppgp veisnvsaek
    20101 atltwtpple dggspiksyi lekretsrll wtvvsediqs crhvatkliq gneyifrvsa
    20161 vnhygkgepv qsepvkmvdr fgppgppekp evsnvtknta tvswkrpvdd ggseitgyhv
    20221 errekkslrw vraiktpvsd lrckvtglqe gstyefrvsa enragigpps easdsvlmkd
    20281 aayppgppsn phvtdttkks aslawgkphy dggleitgyv vehqkvgdea wikdttgtal
    20341 ritqfvvpdl qtkekynfri saindagvge pavipdveiv eremapdfel daelrrtlvv
    20401 raglsirifv pikgrpapev twtkdninlk nranientes ftlliipecn rydtgkfvmt
    20461 ienpagkksg fvnvrvldtp gpvlnlrptd itkdsvtlhw dlplidggsr itnyivekre
    20521 atrksystat tkchkctykv tglsegceyf frvmaeneyg igeptettep vkaseapspp
    20581 dslnimditk stvslawpkp khdggskitg yvieaqrkgs dqwthittvk glecvvrnlt
    20641 egeeytfqvm avnsagrsap resrpvivke qtmlpeldlr giyqklviak agdnikveip
    20701 vlgrpkptvt wkkgdqilkq tqrvnfetta tstilninec vrsdsgpypl tarnivgevg
    20761 dvitiqvhdi pgpptgpikf devssdfvtf swdppendgg vpisnyvvem rqtdsttwve
    20821 lattvirtty katrlttgle yqfrvkaqnr ygvgpgitsa civanypfkv pgppgtpqvt
    20881 avtkdsmtis wheplsdggs pilgyhverk erngilwqtv skalvpgnif kssgltdgia
    20941 yefrviaenm agkskpskps epmlaldpid ppgkpvplni trhtvtlkwa kpeytggfki
    21001 tsyivekrdl pngrwlkanf snileneftv sgltedaaye frviaknaag aisppsepsd
    21061 aitcrddvea pkikvdvkfk dtvilkagea frleadvsgr ppptmewskd gkelegtakl
    21121 eikiadfstn lvnkdstrrd sgaytltatn pggfakhifn vkvldrpgpp egplavtevt
    21181 sekcvlswfp plddggakid hyivqkrets rlawtnvase vqvtklkvtk llkgneyifr
    21241 vmavnkygvg eplesepvla vnpygppdpp knpevttitk dsmvvcwghp dsdggseiin
    21301 yiverrdkag qrwikcnkkt ltdlrykvsg ltegheyefr imaenaagis apsptspfyk
    21361 acdtvfkpgp pgnprvldts rssisiawnk piydggseit gymveialpe edewqivtpp
    21421 aglkatsyti tgltenqeyk iriyamnseg lgepalvpgt pkaedrmlpp eieldadlrk
    21481 vvtiracctl rlfvpikgrp apevkwardh gesldkasie stssytlliv gnvnrfdsgk
    21541 yiltvenssg sksafvnvrv ldtpgppqdl kvkevtktsv tltwdpplld ggskiknyiv
    21601 ekrestrkay stvatnchkt swkvdqlqeg csyyfrvlae neygiglpae taesvkaser
    21661 plppgkitlm dvtrnsvsls wekpehdggs rilgyivemq tkgsdkwatc atvkvteati
    21721 tgliqgeeys frvsaqnekg isdprqlsvp viakdlvipp afkllfntft vlagedlkvd
    21781 vpfigrptpa vtwhkdnvpl kqttrvnaes tennslltik dacredvghy vvkltnsage
    21841 aietlnvivl dkpgpptgpv kmdevtadsi tlswgppkyd ggssinnyiv ekrdtstttw
    21901 qivsatvart tikacrlktg ceyqfriaae nrygkstyln septvaqypf kvpgppgtpv
    21961 vtlssrdsme vqwnepisdg gsrvigyhle rkernsilwv klnktpipqt kfkttgleeg
    22021 veyefrvsae nivgigkpsk vsecyvardp cdppgrpeai ivtrnsvtlq wkkptydggs
    22081 kitgyivekk elpegrwmka sftniidthf evtglvedhr yefrviarna agvfsepses
    22141 tgaitardev dpprismdpk ykdtivvhag esfkvdadiy gkpiptiqwi kgdqelsnta
    22201 rleikstdfa tslsvkdavr vdsgnyilka knvagersvt vnvkvldrpg ppegpvvisg
    22261 vtaekctlaw kpplqdggsd iinyiverre tsrlvwtvvd anvqtlsckv tkllegneyt
    22321 frimavnkyg vgeplesepv vaknpfvvpd apkapevttv tkdsmivvwe rpasdggsei
    22381 lgyvlekrdk egirwtrchk rligelrlrv tglienhdye frvsaenaag lsepsppsay
    22441 qkacdpiykp gppnnpkvid itrssvflsw skpiydggce iqgyivekcd vsvgewtmct
    22501 pptginktni evekllekhe ynfricaink agvgehadvp gpiiveekle apdidldlel
    22561 rkiiniragg slrlfvpikg rptpevkwgk vdgeirdaai idvtssftsl vldnvnryds
    22621 gkytltlens sgtksafvtv rvldtpsppv nlkvteitkd svsitweppl ldggskikny
    22681 ivekreatrk syaavvtnch knswkidqlq egcsyyfrvt aeneygiglp aqtadpikva
    22741 evpqppgkit vddvtrnsvs lswtkpehdg gskiiqyive mqakhsekws ecarvkslqa
    22801 vitnltqgee ylfrvvavne kgrsdprsla vpivakdlvi epdvkpafss ysvqvgqdlk
    22861 ievpisgrpk ptitwtkdgl plkqttrinv tdsldlttls ikethkddgg qygitvanvv
    22921 gqktasieiv tldkpdppkg pvkfddvsae sitlswnppl ytggcqitny ivqkrdtttt
    22981 vwdvvsatva rttlkvtklk tgteyqfrif aenrygqsfa lesdpivaqy pykepgppgt
    23041 pfataiskds mviqwhepvn nggspvigyh lerkernsil wtkvnktiih dtqfkaqnle
    23101 egieyefrvy aenivgvgka sknsecyvar dpcdppgtpe pimvkrneit lqwtkpvydg
    23161 gsmitgyive krdlpdgrwm kasftnviet qftvsglted qryefrviak naagaiskps
    23221 dstgpitakd evelprismd pkfrdtivvn agetfrlead vhgkplptie wlrgdkeiee
    23281 sarceikntd fkallivkda iridggqyil rasnvagsks fpvnvkvldr pgppegpvqv
    23341 tgvtsekcsl twspplqdgg sdishyvvek retsrlawtv vasevvtnsl kvtkllegne
    23401 yvfrimavnk ygvgeplesa pvlmknpfvl pgppkslevt niakdsmtvc wnrpdsdggs
    23461 eiigyivekr drsgirwikc nkrritdlrl rvtgltedhe yefrvsaena agvgepspat
    23521 vyykacdpvf kpgpptnahi vdttknsitl awgkpiydgg seilgyvvei ckadeeewqi
    23581 vtpqtglrvt rfeisklteh qeykirvcal nkvglgeats vpgtvkpedk leapeldlds
    23641 elrkgivvra ggsarihipf kgrptpeitw sreegeftdk vqiekgvnyt qlsidncdrn
    23701 dagkyilkle nssgsksafv tvkvldtpgp pqnlavkevr kdsaflvwep piidggakvk
    23761 nyvidkrest rkayanvssk csktsfkven ltegaiyyfr vmaenefgvg vpvetvdavk
    23821 aaeppsppgk vtltdvsqts aslmwekpeh dggsrvlgyv vemqpkgtek wsivaeskvc
    23881 navvtglssg qeyqfrvkay nekgksdprv lgvpviakdl tiqpslklpf ntysiqaged
    23941 lkieipvigr prpniswvkd geplkqttrv nveetatstv lhikegnkdd fgkytvtatn
    24001 sagtatenls vivlekpgpp vgpvrfdevs adfvviswep paytggcqis nyivekrdtt
    24061 tttwhmvsat varttikitk lktgteyqfr ifaenrygks apldskaviv qypfkepgpp
    24121 gtpfvtsisk dqmlvqwhep vndggtkiig yhleqkekns ilwvklnktp iqdtkfkttg
    24181 ldegleyefk vsaenivgig kpskvsecfv ardpcdppgr peaivitrnn vtlkwkkpay
    24241 dggskitgyi vekkdlpdgr wmkasftnvl eteftvsglv edqryefrvi arnaagnfse
    24301 psdssgaita rdeidapnas ldpkykdviv vhagetfvle adirgkpipd vvwskdgkel
    24361 eetaarmeik stiqkttlvv kdcirtdggq yilklsnvgg tksipitvkv ldrpgppegp
    24421 lkvtgvtaek cylawnpplq dgganishyi iekretsrls wtqvstevqa lnykvtkllp
    24481 gneyifrvma vnkygigepl esgpvtacnp ykppgppstp evsaitkdsm vvtwarpvdd
    24541 ggteiegyil ekrdkegvrw tkcnkktltd lrlrvtglte ghsyefrvaa enaagvgeps
    24601 epsvfyracd alyppgppsn pkvtdtsrss vslawskpiy dggapvkgyv vevkeaaade
    24661 wttctpptgl qgkqftvtkl kenteynfri cainsegvge patlpgsvva qerieppeie
    24721 ldadlrkvvv lrasatlrlf vtikgrpepe vkwekaegil tdraqievts sftmlvidnv
    24781 trfdsgrynl tlennsgskt afvnvrvlds psapvnltir evkkdsvtls wepplidgga
    24841 kitnyivekr ettrkayati tnnctkttfr ienlqegcsy yfrvlasney giglpaette
    24901 pvkvsepplp pgrvtlvdvt rntatikwek pesdggskit gyvvemqtkg sekwstctqv
    24961 ktleatisgl tageeyvfrv aavnekgrsd prqlgvpvia rdieikpsve lpfhtfnvka
    25021 reqlkidvpf kgrpqatvnw rkdgqtlket trvnvssskt vtslsikeas kedvgtyelc
    25081 vsnsagsitv pitiivldrp gppgpiride vscdsitisw nppeydggcq isnyivekke
    25141 ttsttwhivs qavartsiki vrlttgseyq frvcaenryg kssysessav vaeypfsppg
    25201 ppgtpkvvha tkstmlvtwq vpvndggsrv igyhleyker ssilwskank iliadtqmkv
    25261 sgldeglmye yrvyaeniag igkcskscep vpardpcdpp gqpevtnitr ksvslkwskp
    25321 hydggakitg yiverrelpd grwlkcnytn iqetyfevte ltedqryefr vfarnaadsv
    25381 sepsestgpi ivkddveppr vmmdvkfrdv ivvkagevlk inadiagrpl pviswakdgi
    25441 eieerartei istdnhtllt vkdcirrdtg qyvltlknva gtrsvavnck vldkpgppag
    25501 pleingltae kcslswgrpq edggadidyy ivekretshl awticegelq mtsckvtkll
    25561 kgneyifrvt gvnkygvgep lesvaikald pftvpsppts leitsvtkes mtlcwsrpes
    25621 dggseisgyi ierreknslr wvrvnkkpvy dlrvkstglr egceyeyrvy aenaaglslp
    25681 setsplirae dpvflpspps kpkivdsgkt titiawvkpl fdggapitgy tveykksddt
    25741 dwktsiqslr gteytisglt tgaeyvfrvk svnkvgasdp sdssdpqiak ereeeplfdi
    25801 dsemrktliv kagasftmtv pfrgrpvpnv lwskpdtdlr trayvdttds rtsltienan
    25861 rndsgkytlt iqnvlsaasl tlvvkvldtp gpptnitvqd vtkesavlsw dvpendggap
    25921 vknyhiekre askkawvsvt nncnrlsykv tnlqegaiyy frvsgenefg vgipaetkeg
    25981 vkitekpspp eklgvtsisk dsvsltwlkp ehdggsrivh yvvealekgq knwvkcavak
    26041 sthhvvsglr enseyffrvf aenqaglsdp relllpvlik eqleppeidm knfpshtvyv
    26101 ragsnlkvdi pisgkplpkv tlsrdgvplk atmrfnteit aenltinlke svtadagrye
    26161 itaanssgtt kafinivvld rpgpptgpvv isditeesvt lkweppkydg gsqvtnyill
    26221 kretstavwt evsatvartm mkvmklttge eyqfrikaen rfgisdhids acvtvklpyt
    26281 tpgppstpwv tnvtresitv gwhepvsngg savvgyhlem kdrnsilwqk anklvirtth
    26341 fkvttisagl iyefrvyaen aagvgkpshp sepvlaidac epprnvritd isknsvslsw
    26401 qqpafdggsk itgyiverrd lpdgrwtkas ftnvtetqfi isgltqnsqy efrvfarnav
    26461 gsisnpsevv gpitcidsyg gpvidlpley tevvkyragt svklragisg kpaptiewyk
    26521 ddkelqtnal vcventtdla silikdadrl nsgcyelklr namgsasati rvqildkpgp
    26581 pggpiefktv taekitllwr ppaddggaki thyivekret srvvwsmvse hleeciittt
    26641 kiikgneyif rvravnkygi geplesdsvv aknafvtpgp pgipevtkit knsmtvvwsr
    26701 piadggsdis gyflekrdkk slgwfkvlke tirdtrqkvt gltensdyqy rvcavnaagq
    26761 gpfsepsefy kaadpidppg ppakiriads tkssitlgws kpvydggsav tgyvveirqg
    26821 eeeewttvst kgevrtteyv vsnlkpgvny yfrvsavnca gqgepiemne pvqakdilea
    26881 peidldvalr tsviakaged vqvlipfkgr ppptvtwrkd eknlgsdary sientdsssl
    26941 ltipqvtrnd tgkyiltien gvgepksstv svkvldtpaa cqklqvkhvs rgtvtllwdp
    27001 plidggspii nyviekrdat krtwsvvshk csstsfklid lsektpfffr vlaeneigig
    27061 epcettepvk aaevpapird lsmkdstkts vilswtkpdf dggsviteyv verkgkgeqt
    27121 wshagisktc eievsqlkeq svlefrvfak nekglsdpvt igpitvkeli itpevdlsdi
    27181 pgaqvtvrig hnvhlelpyk gkpkpsiswl kdglplkese fvrfsktenk itlsiknakk
    27241 ehggkytvil dnavcriavp itvitlgpps kpkgpirfde ikadsvilsw dvpednggge
    27301 itcysiekre tsqtnwkmvc ssvarttfkv pnlvkdaeyq frvraenryg vsqplvssii
    27361 vakhqfripg ppgkpviynv tsdgmsltwd apvydggsev tgfhvekker nsilwqkvnt
    27421 spisgreyra tglvegldyq frvyaensag lsspsdpskf tlavspvdpp gtpdyidvtr
    27481 etitlkwnpp lrdggskivg ysiekrqgne rwvrcnftdv secqytvtgl spgdryefri
    27541 iarnavgtis ppsqssgiim trdenvppiv efgpeyfdgl iiksgeslri kalvqgrpvp
    27601 rvtwfkdgve iekrmnmeit dvlgstslfv rdatrdhrgv ytveaknasg sakaeikvkv
    27661 qdtpgkvvgp irftnitgek mtlwwdapln dgcapithyi iekretsrla waliedkcea
    27721 qsytaiklin gneyqfrvsa vnkfgvgrpl dsdpvvaqiq ytvpdapgip epsnitgnsi
    27781 tltwarpesd ggseiqqyil errekkstrw vkviskrpis etrfkvtglt egneyefhvm
    27841 aenaagvgpa sgisrlikcr epvnppgppt vvkvtdtskt tvslewskpv fdggmeiigy
    27901 iiemckadlg dwhkvnaeac vktrytvtdl qageeykfrv saingagkgd scevtgtika
    27961 vdrltapeld idanfkqthv vragasirlf iayqgrptpt avwskpdsnl slradihttd
    28021 sfstltvenc nrndagkytl tvennsgsks itftvkvldt pgppgpitfk dvtrgsatlm
    28081 wdaplldgga rihhyvvekr easrrswqvi sekctrqifk vndlaegvpy yfrvsavney
    28141 gvgepyempe pivateqpap prrldvvdts kssavlawlk pdhdggsrit gyllemrqkg
    28201 sdfwveaght kqltftverl vekteyefrv kakndagyse preafssvii kepqieptad
    28261 ltgitnqlit ckagspftid vpisgrpapk vtwkleemrl ketdrvsitt tkdrttltvk
    28321 dsmrgdsgry fltlentagv ktfsvtvvvi grpgpvtgpi evssvsaesc vlswgepkdg
    28381 ggteitnyiv ekresgttaw qlvnssvkrt qikvthltky meysfrvsse nrfgvskple
    28441 sapiiaehpf vppsaptrpe vyhvsanams irweepyhdg gskiigywve kkerntilwv
    28501 kenkvpclec nykvtglveg leyqfrtyal naagvskase asrpimaqnp vdapgrpevt
    28561 dvtrstvsli wsapaydggs kvvgyiierk pvsevgdgrw lkcnytivsd nfftvtalse
    28621 gdtyefrvla knaagviskg sestgpvtcr deyappkael darlhgdlvt iragsdlvld
    28681 aavggkpepk iiwtkgdkel dlcekvslqy tgkratavik fcdrsdsgky tltvknasgt
    28741 kavsvmvkvl dspgpcgklt vsrvtqekct lawslpqedg gaeithyive rretsrlnwv
    28801 ivegecptls yvvtrliknn eyifrvravn kygpgvpves epivarnsft ipsppgipee
    28861 vgtgkehiii qwtkpesdgg neisnylvdk rekkslrwtr vnkdyvvydt rlkvtslmeg
    28921 cdyqfrvtav naagnsepse asnfiscrep sytpgppsap rvvdttkhsi slawtkpmyd
    28981 ggtdivgyvl emqekdtdqw yrvhtnatir nteftvpdlk mgqkysfrva avnvkgmsey
    29041 sesiaeiepv erieipdlel addlkktvti ragaslrlmv svsgrpppvi twskqgidla
    29101 sraiidttes ysllivdkvn rydagkytie aenqsgkksa tvlvkvydtp gpcpsvkvke
    29161 vsrdsvtitw eiptidggap vnnyivekre aamrafktvt tkcsktlyri sglvegtmyy
    29221 frvlpeniyg igepcetsda vlvsevplvp aklevvdvtk stvtlawekp lydggsrltg
    29281 yvleackagt erwmkvvtlk ptvlehtvts lnegeqylfr iraqnekgvs epretvtavt
    29341 vqdlrvlpti dlstmpqkti hvpagrpvel vipiagrppp aaswffagsk lreservtve
    29401 thtkvaklti rettirdtge ytlelknvtg ttsetikvii ldkpgpptgp ikideidats
    29461 itisweppel dggaplsgyv veqrdahrpg wlpvsesvtr stfkftrlte gneyvfrvaa
    29521 tnrfgigsyl qseviecrss iripgppetl qifdvsrdgm tltwyppedd ggsqvtgyiv
    29581 erkevradrw vrvnkvpvtm tryrstglte gleyehrvta inargsgkps rpskpivamd
    29641 piappgkpqn prvtdttrts vslawsvped eggskvtgyl iemqkvdqhe wtkcnttptk
    29701 ireytlthlp qgaeyrfrvl acnaggpgep aevpgtvkvt emleypdyel deryqegifv
    29761 rqggvirlti pikgkpfpic kwtkegqdis kramiatset htelvikead rgdsgtydlv
    29821 lenkcgkkav yikvrvigsp nspegpleyd diqvrsvrvs wrppaddgga dilgyilerr
    29881 evpkaawyti dsrvrgtslv vkglkenvey hfrvsaenqf giskplksee pvtpktplnp
    29941 peppsnppev ldvtkssvsl swsrpkddgg srvtgyyier ketstdkwvr hnktqitttm
    30001 ytvtglvpda eyqfriiaqn dvglsetspa sepvvckdpf dkpsqpgele ilsiskdsvt
    30061 lqwekpecdg gkeilgywve yrqsgdsawk ksnkerikdk qftiggllea teyefrvfae
    30121 netglsrprr tamsiktklt sgeapgirke mkdvttklge aaqlscqivg rplpdikwyr
    30181 fgkeliqsrk ykmssdgrth tltvmteeqe degvytciat nevgevetss klllqatpqf
    30241 hpgyplkeky ygavgstlrl hvmyigrpvp amtwfhgqkl lqnsenitie ntehythlvm
    30301 knvqrkthag kykvqlsnvf gtvdaildve iqdkpdkptg pivieallkn saviswkppa
    30361 ddggswitny vvekceakeg aewqlvssai svttcrivnl tenagyyfrv saqntfgisd
    30421 plevssvvii kspfekpgap gkptitavtk dscvvawkpp asdggakirn yylekrekkq
    30481 nkwisvttee iretvfsvkn liegleyefr vkcenlgges ewseisepit pksdvpiqap
    30541 hfkeelrnln vryqsnatlv ckvtghpkpi vkwyrqgkei iadglkyriq efkggyhqli
    30601 iasvtdddat vyqvratnqg gsvsgtasle vevpakihlp ktlegmgavh alrgevvsik
    30661 ipfsgkpdpv itwqkgqdli dnnghyqviv trsftslvfp ngverkdagf yvvcaknrfg
    30721 idqktveldv advpdpprgv kvsdvsrdsv nltwtepasd ggskitnyiv ekcattaerw
    30781 lrvgqaretr ytvinlfgkt syqfrviaen kfglskpsep septitkedk tramnydeev
    30841 detrevsmtk ashsstkely ekymiaedlg rgefgivhrc vetsskktym akfvkvkgtd
    30901 qvlvkkeisi lniarhrnil hlhesfesme elvmifefis gldiferint safelnerei
    30961 vsyvhqvcea lqflhshnig hfdirpenii yqtrrsstik iiefgqarql kpgdnfrllf
    31021 tapeyyapev hqhdvvstat dmwslgtlvy vllsginpfl aetnqqiien imnaeytfde
    31081 eafkeisiea mdfvdrllvk erksrmtase alqhpwlkqk iervstkvir tlkhrryyht
    31141 likkdlnmvv saariscgga irsqkgvsva kvkvasieig pvsgqimhav geegghvkyv
    31201 ckienydqst qvtwyfgvrq lensekyeit yedgvailyv kditklddgt yrckvvndyg
    31261 edssyaelfv kgvrevydyy crrtmkkikr rtdtmrller ppeftlplyn ktayvgenvr
    31321 fgvtitvhpe phvtwyksgq kikpgdndkk ytfesdkgly qltinsvttd ddaeytvvar
    31381 nkygedscka kltvtlhppp tdstlrpmfk rllanaecqe gqsvcfeirv sgippptlkw
    31441 ekdgqplslg pnieiihegl dyyalhirdt lpedtgyyrv tatntagsts cqahlqverl
    31501 rykkqefksk eeherhvqkq idktlrmaei lsgtesvplt qvakealrea avlykpavst
    31561 ktvkgefrle ieekkeerkl rmpydvpepr kykqttieed qrikqfvpms dmkwykkird
    31621 qyempgkldr vvqkrpkrir lsrweqfyvm plpritdqyr pkwripklsq ddleivrpar
    31681 rrtpspdydf yyrprrrslg disdeelllp iddylamkrt eeerlrleee lelgfsaspp
    31741 srspphfels slrysspqah vkveetrkdf rystyhiptk aeastsyael rerhaqaayr
    31801 qpkqrqrima eredeellrp vtttqhlsey kseldfmske eksrkksrrq revteiteie
    31861 eeyeiskhaq ressssasrl lrrrrslspt yielmrpvse lirsrpqpae eyeddterrs
    31921 ptpertrprs pspvssersl srfersarfd ifsryesmka alktqktser kyevlsqqpf
    31981 tldhapritl rmrshrvpcg qntrfilnvq skptaevkwy hngvelqess kihytntsgv
    32041 ltleildcht ddsgtyravc tnykgeasdy atldvtggdy ttyasqrrde evprsvfpel
    32101 trteayavss fkktsemeas ssvrevksqm tetreslssy ehsasaemks aaleekslee
    32161 ksttrkiktt laariltkpr smtvyegesa rfscdtdgep vptvtwlrkg qvlstsarhq
    32221 vtttkykstf eissvqasde gnysvvvens egkqeaeftl tiqkarvtek avtspprvks
    32281 peprvkspea vkspkrvksp epshpkavsp tetkptptek vqhlpvsapp kitqflkaea
    32341 skeiakltcv vessvlrake vtwykdgkkl kenghfqfhy sadgtyelki nnltesdqge
    32401 yvceisgegg tsktnlqfmg qafksihekv skisetkksd qkttestvtr ktepkapepi
    32461 sskpvivtgl qdttvssdsv akfavkatge prptaiwtkd gkaitqggky klsedkggff
    32521 leihktdtsd sglytctvkn sagsvsssck ltikaikdte aqkvstqkts eitpqkkavv
    32581 qeeisqkalr seeikmseak sqeklalkee askvliseev kksaatslek sivheeitkt
    32641 sqaseevrth aeikafstqm sinegqrlvl kaniagatdv kwvlngvelt nseeyrygvs
    32701 gsdqtltikq ashrdegilt cisktkegiv kcqydltlsk elsdapafis qprsqnineg
    32761 qnvlftceis gepspeiewf knnlpisiss nvsisrsrnv ysleirnasv sdsgkytika
    32821 knfrgqcsat aslmvlplve epsrevvlrt sgdtslqgsf ssqsvqmsas kqeasfssfs
    32881 sssassmtem kfasmsaqsm ssmqesfvem ssssfmgisn mtqlesstsk mlkagirgip
    32941 pkiealpsdi sidegkvltv acaftgeptp evtwscggrk ihsqeqgrfh ientddlttl
    33001 iimdvqkqdg glytlslgne fgsdsatvni hirsi
//
LOCUS       XP_016883414             232 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 74B isoform X4 [Homo sapiens].
ACCESSION   XP_016883414
VERSION     XP_016883414.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027925.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..232
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..232
                     /product="transmembrane protein 74B isoform X4"
                     /calculated_mol_wt=24904
     CDS             1..232
                     /gene="TMEM74B"
                     /gene_synonym="C20orf46"
                     /coded_by="XM_017027925.2:886..1584"
                     /db_xref="GeneID:55321"
                     /db_xref="HGNC:HGNC:15893"
ORIGIN      
        1 masppglelk tlsngpqapr rsaplgpvap tregvenacf sseehethfq npgntrlgss
       61 psppggvssl prsqrddlsl hseegpalep vsrpvdygfv salvflvsgi llvvtayaip
      121 rearvnpdtv taremerlem yyarlgshld rciiaglgll tvggmllsvl lmvslckgel
      181 yrrrtfvpgk gsrktygsin lrmrqlngdg gqalvenevv qvsetshtlq rs
//
LOCUS       XP_005261293             262 aa            linear   PRI 20-MAR-2023
DEFINITION  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X3
            [Homo sapiens].
ACCESSION   XP_005261293
VERSION     XP_005261293.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005261236.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..262
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..262
                     /product="haloacid dehalogenase-like hydrolase
                     domain-containing 5 isoform X3"
                     /calculated_mol_wt=28921
     Region          <1..199
                     /region_name="CECR5"
                     /note="HAD-superfamily class IIA hydrolase, TIGR01456,
                     CECR5"
                     /db_xref="CDD:200106"
     CDS             1..262
                     /gene="HDHD5"
                     /gene_synonym="CECR5"
                     /coded_by="XM_005261236.5:183..971"
                     /db_xref="GeneID:27440"
                     /db_xref="HGNC:HGNC:1843"
ORIGIN      
        1 mafplldmvd lerrlkttpl prndfprieg vlllgepvrw etslqlimdv llsngspgag
       61 latppyphlp vlasnmdllw maeakmprfg hgtfllclet iyqkvtgkel ryeglmgkps
      121 iltyqyaedl irrqaerrgw aapirklyav gdnpmsdvyg anlfhqylqk athdgapelg
      181 aggtrqqqps asqscisilv ctgvynprnp qstepvlggg eppfhghrdl cfspglmeas
      241 hvvndvneav qlvfrkegwa le
//
LOCUS       XP_047303056             208 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-binding cassette sub-family C member 5 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047303056
VERSION     XP_047303056.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447100.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..208
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..208
                     /product="ATP-binding cassette sub-family C member 5
                     isoform X3"
                     /calculated_mol_wt=23546
     Region          100..>156
                     /region_name="PLN03232"
                     /note="ABC transporter C family member; Provisional"
                     /db_xref="CDD:215640"
     CDS             1..208
                     /gene="ABCC5"
                     /gene_synonym="ABC33; EST277145; MOAT-C; MOATC; MRP5;
                     pABC11; SMRP"
                     /coded_by="XM_047447100.1:590..1216"
                     /db_xref="GeneID:10057"
                     /db_xref="HGNC:HGNC:56"
                     /db_xref="MIM:605251"
ORIGIN      
        1 mkdidigkey iipspgyrsv rertstsgth rdredskfrr trplecqdal etaaraegls
       61 ldasmhsqlr ildeehpkgk yhhglsalkp irttskhqhp vdnaglfscm tfswlsslar
      121 vahkkgelsm edvwslskhe ssdvncrrle rlwqeelnev gpdaaslrrv vwifcrtrli
      181 lsivclmitq lagfsgpnfq dgcilrse
//
LOCUS       XP_047303678             849 aa            linear   PRI 20-MAR-2023
DEFINITION  trafficking kinesin-binding protein 1 isoform X8 [Homo sapiens].
ACCESSION   XP_047303678
VERSION     XP_047303678.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447722.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..849
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..849
                     /product="trafficking kinesin-binding protein 1 isoform
                     X8"
                     /calculated_mol_wt=94116
     Region          1..249
                     /region_name="HAP1_N"
                     /note="HAP1 N-terminal conserved region; pfam04849"
                     /db_xref="CDD:428156"
     Region          310..479
                     /region_name="Milton"
                     /note="Kinesin associated protein; pfam12448"
                     /db_xref="CDD:432560"
     CDS             1..849
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /coded_by="XM_047447722.1:1005..3554"
                     /db_xref="GeneID:22906"
                     /db_xref="HGNC:HGNC:29947"
                     /db_xref="MIM:608112"
ORIGIN      
        1 mtktyndida vtrlleeker dlelaarigq sllkknktlt ernelleeqv ehireevsql
       61 rhelsmkdel lqfytsaaee sepesvcstp lkrnessssv qnyfhldslq kklkdleeen
      121 vvlrseasql ktetityeek eqqlvndcvk elrdanvqia siseelakkt edaarqqeei
      181 thllsqivdl qkkakacave neelvqhlga akdaqrqlta elreledkya ecmemlheaq
      241 eelknlrnkt mpnttsrryh slglfpmdsl aaeiegtmrk elqleeaesp dithqkrvfe
      301 tvrninqvvk qrsltpspmn ipgsnqssam nsllsscvst prssfygsdi gnvvldnktn
      361 siileteaad lgnderskkp gtpgtpgshd letalrrlsl rrenylserr ffeeeqerkl
      421 qelaekgelr sgsltptesi mslgthsrfs eftgfsgmsf ssrsylpekl qivkplegsa
      481 tlhhwqqlaq phlggildpr pgvvtkgfrt ldvdldevyc lndfeeddtg dhislprlat
      541 stpvqhpets ahhpgkcmsq tnstftfttc rilhpsdelt rvtpslnsap tpacgstshl
      601 kstpvatpct prrlslaesf tntrestttm stslglvwll kergisaavy dpqswdragr
      661 gsllhsytpk mavipstppn spmqtptssp psfefkctsp pydnflaskp assilrevre
      721 knvrssesqt dvsvsnlnlv dkvrrfgvak vvnsgrahvp tlteeqgpll cgppgpapal
      781 vprglvpegl plrcptvtsa igglqlnsgi rrnrsfptmv gssmqmkapv tltsgilmga
      841 klskqtslr
//
LOCUS       XP_011510904             820 aa            linear   PRI 20-MAR-2023
DEFINITION  arf-GAP with coiled-coil, ANK repeat and PH domain-containing
            protein 2 isoform X4 [Homo sapiens].
ACCESSION   XP_011510904
VERSION     XP_011510904.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011512602.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..820
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..820
                     /product="arf-GAP with coiled-coil, ANK repeat and PH
                     domain-containing protein 2 isoform X4"
                     /calculated_mol_wt=92767
     Region          18..217
                     /region_name="BAR_ACAP2"
                     /note="The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with
                     Coiled-coil, ANK repeat and PH domain containing protein
                     2; cd07638"
                     /db_xref="CDD:153322"
     Site            order(27,30..31,35,37..38,41..42,44..45,55..56,58..59,
                     62..63,65..66,69,83,86..87,178,181..182,184,189,192..193,
                     195..196,199..200,203..204,206..207,210..211,213..214)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153322"
     Region          269..372
                     /region_name="PH_ACAP"
                     /note="ArfGAP with coiled-coil, ankyrin repeat and PH
                     domains Pleckstrin homology (PH) domain; cd13250"
                     /db_xref="CDD:270070"
     Region          394..>638
                     /region_name="COG5347"
                     /note="GTPase-activating protein that regulates ARFs
                     (ADP-ribosylation factors), involved in ARF-mediated
                     vesicular transport [Intracellular trafficking and
                     secretion]"
                     /db_xref="CDD:227651"
     Region          406..520
                     /region_name="ArfGap_ACAP2"
                     /note="ArfGAP domain of ACAP2 (ArfGAP with Coiled-coil,
                     ANK repeat and PH domains 2); cd08851"
                     /db_xref="CDD:350076"
     Site            order(421,424,441,444,449)
                     /site_type="other"
                     /note="arginine finger"
                     /db_xref="CDD:350076"
     Site            order(421,424,441,444)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:350076"
     Site            order(446,449..450,459,463..464,503)
                     /site_type="other"
                     /note="putative ANK repeat binding site [polypeptide
                     binding]"
                     /db_xref="CDD:350076"
     Site            order(657..659,661..662,666,669,678,680,684,688..689,
                     692..694,696..697,701,704,713,715,717,721..722,725..727,
                     729..730,734,737,746)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          680..713
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          684..>768
                     /region_name="PTZ00322"
                     /note="6-phosphofructo-2-kinase/fructose-2,
                     6-biphosphatase; Provisional"
                     /db_xref="CDD:140343"
     Region          715..746
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..820
                     /gene="ACAP2"
                     /gene_synonym="CENTB2; CNT-B2"
                     /coded_by="XM_011512602.3:174..2636"
                     /db_xref="GeneID:23527"
                     /db_xref="HGNC:HGNC:16469"
                     /db_xref="MIM:607766"
ORIGIN      
        1 mkmtvdfeec lkdsprfraa leevegdvae lelkldklvk lciamidtgk afcvankqfm
       61 ngirdlaqys sndavvetsl tkfsdslqem infhtilfdq tqrsikaqlq nfvkedlrkf
      121 kdakkqfekv seekenalvk naqvqrnkqh eveeatnilt atrkcfrhia ldyvlqinvl
      181 qskrrseilk smlsfmyahl affhqgydlf selgpymkdl gaqldrlvvd aakekremeq
      241 khstiqqkdf ssddskleyn vdaangivme gylfkrasna fktwnrkkpd hirrwfsiqn
      301 nqlvyqkkfk dnptvvvedl rlctvkhced ierrfcfevv sptkscmlqa dseklrqawi
      361 kavqtsiata yrekgdesek ldkksspstg sldsgneske kllkgesalq rvqcipgnas
      421 ccdcgladpr wasinlgitl ciecsgihrs lgvhfskvrs ltldtwepel lklmcelgnd
      481 vinrvyeanv ekmgikkpqp gqrqekeayi rakyverkfv dkysislspp eqqkkfvsks
      541 seekrlsisk fgpgdqvras aqssviavns dearreslfc pdeldslfsy fdtssklrsi
      601 rsndsgiqqs sddgreslps tvsanslyep egerqdssmf ldskhlnpgl qlyrasyekn
      661 lpkmaealah gadvnwanse enkatpliqa vlggslvtce fllqnganvn qrdvqgrgpl
      721 hhatvlghtg qvclflkrga nqhatdeegk dplsiaveaa nadivtllrl armneemres
      781 eglygqpgde tyqdifrdfs qmasnnpekl nrfqqdsqkf
//
LOCUS       XP_011531863             326 aa            linear   PRI 20-MAR-2023
DEFINITION  POC1 centriolar protein homolog A isoform X3 [Homo sapiens].
ACCESSION   XP_011531863
VERSION     XP_011531863.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011533561.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..326
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..326
                     /product="POC1 centriolar protein homolog A isoform X3"
                     /calculated_mol_wt=36137
     Region          11..292
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(18,36,40,46..47,59..60,78,82,88..89,101..102,119,
                     124,130..131,144,161,166,172..173,185..186,204,208,
                     214..215,227..228,245,250,256..257,269..270,288,292)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          23..59
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          64..100
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          107..140
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          148..184
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          190..226
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          232..255
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..326
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /coded_by="XM_011533561.2:52..1032"
                     /db_xref="GeneID:25886"
                     /db_xref="HGNC:HGNC:24488"
                     /db_xref="MIM:614783"
ORIGIN      
        1 maapcaedps lerhfkghrd avtcvdfsin tkqlasgsmd sclmvwhmkp qsrayrftgh
       61 kdavtcvnfs psghllasgs rdktvriwvp nvkgestvfr ahtatvrsvh fcsdgqsfvt
      121 asddktvkvw athrqkflfs lsqhinwvrc akfspdgrli vsasddktvk lwdkssrecv
      181 hsycehggfv tyvdfhpsgt ciaaagmdnt vkvwdvrthr llqhyqlhsa avnglsfhps
      241 gnylitassd stlkildlme grllytlhgh qgpattvafs rtgeyfasgg sdeqtvsile
      301 qrltltedkl kqclenqqli mqratp
//
LOCUS       XP_005265128            2278 aa            linear   PRI 20-MAR-2023
DEFINITION  golgin subfamily A member 4 isoform X3 [Homo sapiens].
ACCESSION   XP_005265128
VERSION     XP_005265128.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005265071.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2278
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..2278
                     /product="golgin subfamily A member 4 isoform X3"
                     /calculated_mol_wt=265938
     Region          <191..507
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     Region          <370..1052
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          796..1720
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          <1501..>2142
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          2220..2263
                     /region_name="Grip"
                     /note="golgin-97, RanBP2alpha,Imh1p and p230/golgin-245;
                     smart00755"
                     /db_xref="CDD:197860"
     CDS             1..2278
                     /gene="GOLGA4"
                     /gene_synonym="CRPF46; GCP2; GOLG; MU-RMS-40.18; p230"
                     /coded_by="XM_005265071.4:281..7117"
                     /db_xref="GeneID:2803"
                     /db_xref="HGNC:HGNC:4427"
                     /db_xref="MIM:602509"
ORIGIN      
        1 mfkklkqkis eeqqqlqqal apaqassnss tptrmrsrts sfteqldegt pnrellagmi
       61 aepaflseyt ifaldsskhp ktqsdsvnas thaskspdsv ngsepsipqs gdtqsfaqkl
      121 qlrvpsvesl frspikeslf rssskeslvr tssreslnrl dldsstasfd ppsdmdseae
      181 dlvgnsdsln keqliqrlrr merslssyrg kyselvtayq mlqrekkklq gilsqsqdks
      241 lrriaelree lqmdqqakkh lqeefdasle ekdqyisvlq tqvsllkqrl rngpmnvdvl
      301 kplpqlepqa evftkeenpe sdgepvvedg tsvktletlq qrvkrqenll krcketiqsh
      361 keqctlltse kealqeqlde rlqelekikd lhmaektkli tqlrdaknli eqleqdkgmv
      421 iaetkrqmhe tlemkeeeia qlrsrikqmt tqgeelreqk ekseraafee lekalstaqk
      481 teearrklka emdeqiktie ktseeerisl qqelsrvkqe vvdvmkksse eqiaklqklh
      541 ekelarkeqe ltkklqtrer efqeqmkval eksqseylki sqekeqqesl aleelelqkk
      601 ailtesenkl rdlqqeaety rtrileless lekslqenkn qskdlavhle aeknkhnkei
      661 tvmvekhkte leslkhqqda lwteklqvlk qqyqtemekl rekceqeket llkdkeiifq
      721 ahieemnekt lekldvkqte leslsselse vlkarhklee elsvlkdqtd kmkqeleakm
      781 deqknhhqqq vdsiikehev siqrtekalk dqinqlelll kerdkhlkeh qahvenlead
      841 ikrsegelqq asakldvfqs yqsatheqtk ayeeqlaqlq qklldleter illtkqvaev
      901 eaqkkdvcte ldahkiqvqd lmqqlekqns emeqkvkslt qvyeskledg nkeqeqtkqi
      961 lvekenmilq mregqkkeie iltqklsake dsihilneey etkfknqekk mekvkqkake
     1021 mqetlkkkll dqeaklkkel entalelsqk ekqfnakmle maqansagis davsrletnq
     1081 keqiesltev hrrelndvis iwekklnqqa eelqeiheiq lqekeqevae lkqkillfgc
     1141 ekeemnkeit wlkeegvkqd ttlnelqeql kqksahvnsl aqdetklkah leklevdlnk
     1201 slkentflqe qlvelkmlae edkrkvselt sklkttdeef qslkssheks nksledksle
     1261 fkklseelai qldicckkte alleaktnel inisssktna ilsrishcqh rttkvkeall
     1321 iktctvsele aqlrqlteeq ntlnisfqqa thqleekenq iksmkadies lvtekealqk
     1381 eggnqqqaas ekescitqlk kelseninav tlmkeelkek kveisslskq ltdlnvqlqn
     1441 sislsekeaa isslrkqyde ekcelldqvq dlsfkvdtls kekisaleqv ddwsnkfsew
     1501 kkkaqsrftq hqntvkelqi qlelkskeay ekdeqinllk eeldqqnkrf dclkgemedd
     1561 kskmekkesn letelksqta rimeledhit qktieiesln evlknynqqk diehkelvqk
     1621 lqhfqelgee kdnrvkeaee kiltlenqvy smkaeletkk kelehvnlsv kskeeelkal
     1681 edrlesesaa klaelkrkae qkiaaikkql lsqmeekeeq ykkgteshls elntklqere
     1741 revhileekl ksvessqset livprsaknv aayteqeead sqgcvqktye ekisvlqrnl
     1801 tekekllqrv gqekeetvss hfemrcqyqe rliklehaea kqhedqsmig hlqeeleekn
     1861 kkyslivaqh vekeggknni qakqnlenvf ddvqktlqek eltcqileqk ikeldsclvr
     1921 qkevhrveme eltskyeklq alqqmdgrnk ptelleente ekskshlvqp kllsnmeaqh
     1981 ndlefklaga erekqklgke ivrlqkdlrm lrkehqqele ilkkeydqer eekikqeqed
     2041 lelkhnstlk qlmrefntql aqkeqelemt iketinkaqe veaelleshq eetnqllkki
     2101 aekdddlkrt akryeeilda reeemtakvr dlqtqleelq kkyqqkleqe enpgndntql
     2161 aqkttlisds klkeqefreq ihnledrlkk yeknvyattv gtpykggnly htdvslfgep
     2221 tefeylrkvl feymmgretk tmakvittvl kfpddqtqki leredarlmf tsprsgif
//
LOCUS       XP_047273947             173 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124901104 isoform X1 [Homo sapiens].
ACCESSION   XP_047273947
VERSION     XP_047273947.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417991.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..173
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..173
                     /product="uncharacterized protein LOC124901104 isoform X1"
                     /calculated_mol_wt=18229
     CDS             1..173
                     /gene="LOC124901104"
                     /coded_by="XM_047417991.1:175..696"
                     /db_xref="GeneID:124901104"
ORIGIN      
        1 mgirekaegt agsakvsrdv scvhipttps aglfpglptr rkvrkvrrqr deatclkaat
       61 qllllkppad swapkllrpl etpkrmllaa krpepittgt apsvssvpay clvtcpacpc
      121 adavdartpy swreagkpsg acayehcpsl aapgmgeegk pqeclwgvta ape
//
LOCUS       XP_047275214            1003 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C6orf132 isoform X1 [Homo sapiens].
ACCESSION   XP_047275214
VERSION     XP_047275214.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419258.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1003
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1003
                     /product="uncharacterized protein C6orf132 isoform X1"
                     /calculated_mol_wt=104383
     Region          <93..645
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..1003
                     /gene="C6orf132"
                     /gene_synonym="bA7K24.2"
                     /coded_by="XM_047419258.1:1205..4216"
                     /db_xref="GeneID:647024"
                     /db_xref="HGNC:HGNC:21288"
ORIGIN      
        1 mapppppvle alspphtlss psiptppdfi ppapplafla pppppvpapa ppapasphtv
       61 gtrlfppggv tkwksdvaln grqaeatras pprspaepkg salgpnpeph ltfprsfkvp
      121 pptpvrtssi pvqeaqeapr keegatkkap srlplppsfh irpasqvypd rapepdcpge
      181 lkatapaspr lgqsqsqade ragtpppapp lpppapplpp papplppaap plpcaqkaah
      241 ppagftktpk ssspalkpkp nppspentas sapvdwrdps qmeklrnela aylcgsrred
      301 rflshrpgpt vapqskegkk gprlpeketl lslpakdtpp gvpekslggs slteteaaps
      361 ltlpsvdyip qdsptpsvrq irnelearls saaekeakps igslppkprl eggricenga
      421 dddklskpva knlppqsttl lpttslqpka mlgpaippka tpepaippka tlwpatppka
      481 tlgpatplka tsgpttplka tsgpaiasta ttlptttsql maekdsgpag qpekpasqev
      541 stpsqargeg spseatrlpt qgarssaafp pktspgggev pclykphchq sslsrevavv
      601 mptlarggaa gpgepvevke ppglpakppa saqptdellr hpvtgevver gspmalllaa
      661 rqraqkgrsv gaalgrsslp gslrdhshqa eassdsifhs qgtpnsftvv pklpkeaekd
      721 spltteipnk wgprlgrdae gtelsrrhnw tkpepqapva wervapsnlp qghplpksfs
      781 sppspsnkre eeeeefnfev ippppefsnd peppapalqy lgrqsspprn nysdlrqlpn
      841 agpgappalg fsrfpagary agagglerfs gggrslikkr lyvgephrgp glphggtgrs
      901 lsspncfgpq pggpemrrvn sagrappggl haprlslega argaaeakhk apgsadygfa
      961 paagrspytt trygspintf tvrpgtrhpi syvcsgahrk ats
//
LOCUS       XP_047277327             456 aa            linear   PRI 20-MAR-2023
DEFINITION  glycerol-3-phosphate acyltransferase 4 isoform X1 [Homo sapiens].
ACCESSION   XP_047277327
VERSION     XP_047277327.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421371.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..456
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..456
                     /product="glycerol-3-phosphate acyltransferase 4 isoform
                     X1"
                     /calculated_mol_wt=51940
     Region          218..427
                     /region_name="LPLAT_LPCAT1-like"
                     /note="Lysophospholipid Acyltransferases (LPLATs) of
                     Glycerophospholipid Biosynthesis: LPCAT1-like; cd07991"
                     /db_xref="CDD:153253"
     Site            order(248,251,253,267..270,323..325)
                     /site_type="active"
                     /note="putative acyl-acceptor binding pocket [active]"
                     /db_xref="CDD:153253"
     CDS             1..456
                     /gene="GPAT4"
                     /gene_synonym="1-AGPAT 6; AGPAT6; LPAAT-zeta; LPAATZ;
                     TSARG7"
                     /coded_by="XM_047421371.1:989..2359"
                     /db_xref="GeneID:137964"
                     /db_xref="HGNC:HGNC:20880"
                     /db_xref="MIM:608143"
ORIGIN      
        1 mflllpfdsl ivnllgislt vlftlllvfi ivpaifgvsf girklymksl lkifawatlr
       61 mergakeknh qlykpytngi iakdptslee eikeirrsgs skaldntpef elsdifyfcr
      121 kgmetimdde vtkrfsaeel eswnllsrtn ynfqyislrl tvlwglgvli rycfllplri
      181 alaftgisll vvgttvvgyl pngrfkefms khvhlmcyri cvraltaiit yhdrenrprn
      241 ggicvanhts pidviilasd gyyamvgqvh gglmgviqra mvkacphvwf ersevkdrhl
      301 vakrltehvq dksklpilif pegtcinnts vmmfkkgsfe igatvypvai kydpqfgdaf
      361 wnsskygmvt yllrmmtswa ivcsvwylpp mtreadedav qfanrvksai arqgglvdll
      421 wdgglkrekv kdtfkeeqqk lyskmivgnh kdrsrs
//
LOCUS       XP_047277876             776 aa            linear   PRI 20-MAR-2023
DEFINITION  oxidation resistance protein 1 isoform X9 [Homo sapiens].
ACCESSION   XP_047277876
VERSION     XP_047277876.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421920.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..776
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..776
                     /product="oxidation resistance protein 1 isoform X9"
                     /calculated_mol_wt=86882
     Region          30..72
                     /region_name="LysM"
                     /note="LysM domain; pfam01476"
                     /db_xref="CDD:396179"
     Region          614..776
                     /region_name="TLDc"
                     /note="domain in TBC and LysM domain containing proteins;
                     smart00584"
                     /db_xref="CDD:214733"
     CDS             1..776
                     /gene="OXR1"
                     /gene_synonym="CHEGDD; Nbla00307; TLDC3"
                     /coded_by="XM_047421920.1:157..2487"
                     /db_xref="GeneID:55074"
                     /db_xref="HGNC:HGNC:15822"
                     /db_xref="MIM:605609"
ORIGIN      
        1 mcvdtgqkkt ldkkdgrrms fqkpkgtiey tvesrdslns ialkfdttpn elvqlnklfs
       61 ravvtgqvly vpdpeyvssv esspslspvs plsptsseae fdkttnpdvh pteatpsstf
      121 tgirparvvs stseeeeaft ekflkincky itsgkgtvsg vllvtpnnim fdphkndplv
      181 qengceeygi mcpmeevmsa amykeildsk ikeslpidid qlsgrdfchs kkmtgsntee
      241 idsrirdagn dsastaprst eeslsedvft eselspiree lvssdelrqd kssgassesv
      301 qtvnqaeves ltvksestgt pghlrsdteh stnevgtlch ktdlnnlema ikedqiadnf
      361 qgisgpkeds tsikgnsdqd sflhenslhq eesqkenmpc getaefkqkq svnkgkqgke
      421 qnqdsqteae elrklwktht mqqtkqqren iqqvsqkeak hkitsadghi essallkekq
      481 rhrlhkflcl rvgkpmrktf vsqasatmqq yaqrdkkhey wfavpqertd hlyaffiqws
      541 peiyaedtge ytrepgfivv kkieesetie dssnqaaare weittredin skqvatvkad
      601 lesesfrpnl sdpselllpd qiekltkhlp prtigypwtl vygtgkhgts lktlyrtmtg
      661 ldtpvlmvik dsdgqvfgal aseplkvsdg fygtgetfvf tfcpefevfk wtgdnmffik
      721 gdmdslafgg gggefalwld gdlyhgrshs cktfgnrtls kkedffiqdi eiwafe
//
LOCUS       XP_054185187             549 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 3G isoform X3 [Homo sapiens].
ACCESSION   XP_054185187
VERSION     XP_054185187.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329212.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187614.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..549
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     Protein         1..549
                     /product="TBC1 domain family member 3G isoform X3"
                     /calculated_mol_wt=62100
     CDS             1..549
                     /gene="TBC1D3G"
                     /gene_synonym="TBC1D3C; TBC1D3D"
                     /coded_by="XM_054329212.1:7088..8737"
                     /db_xref="GeneID:101060321"
                     /db_xref="HGNC:HGNC:29860"
                     /db_xref="MIM:610810"
ORIGIN      
        1 mdvvevagsw waqerediim kyekghragl pedkgpkpfr synnnvdhlg ivhetelppl
       61 tareakqirr eisrkskwvd mlgdwekyks srklidrayk gmpmnirgpm wsvllnieem
      121 klknpgryqi mkekgkrsse hiqridrdis gtlrkhmffr drygtkqrel lhillayeey
      181 npevgycrdl shiaalflly lpeedafwal vqllaserhs lqgfhspngg tvqglqdqqe
      241 hvvatsqpkt mghqdkkdlc gqcsplgcli rilidgislg ltlrlwdvyl vegeqalmpi
      301 triafkvqqk rltktsrcgp warfcnrfvd twardedtvl khlrasmkkl trkqgdlppp
      361 akpeqgssas rpvpasrggk tlckgdrqap pgpparfprp iwsaspprap rsstpcpgga
      421 vredtypvgt qgvpspalaq ggpqgswrfl qwnsmprlpt dldvegpwfr hydfrqscwv
      481 raisqedqla pcwqaehpae rvrsafaaps tdsdqgtpfr ardeqqcapt sgpclcglhl
      541 essqfppgf
//
LOCUS       XP_054185799             205 aa            linear   PRI 20-MAR-2023
DEFINITION  lymphotoxin-alpha isoform X1 [Homo sapiens].
ACCESSION   XP_054185799
VERSION     XP_054185799.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329824.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_113891.3) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..205
                     /product="lymphotoxin-alpha isoform X1"
                     /calculated_mol_wt=22179
     CDS             1..205
                     /gene="LTA"
                     /gene_synonym="LT; TNFB; TNFSF1; TNLG1E"
                     /coded_by="XM_054329824.1:286..903"
                     /db_xref="GeneID:4049"
                     /db_xref="HGNC:HGNC:6709"
                     /db_xref="MIM:153440"
ORIGIN      
        1 mtpperlflp rvcgttlhll llglllvllp gaqglpgvgl tpsaaqtarq hpkmhlahsn
       61 lkpaahligd pskqnsllwr antdraflqd gfslsnnsll vptsgiyfvy sqvvfsgkay
      121 spkatssply lahevqlfss qypfhvplls sqkmvypglq epwlhsmyhg aafqltqgdq
      181 lsthtdgiph lvlspstvff gafal
//
LOCUS       XP_054186846            1112 aa            linear   PRI 20-MAR-2023
DEFINITION  large proline-rich protein BAG6 isoform X3 [Homo sapiens].
ACCESSION   XP_054186846
VERSION     XP_054186846.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330871.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167247.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1112
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1112
                     /product="large proline-rich protein BAG6 isoform X3"
                     /calculated_mol_wt=116857
     CDS             1..1112
                     /gene="BAG6"
                     /gene_synonym="BAG-6; BAT3; D6S52E; G3"
                     /coded_by="XM_054330871.1:252..3590"
                     /db_xref="GeneID:7917"
                     /db_xref="HGNC:HGNC:13919"
                     /db_xref="MIM:142590"
ORIGIN      
        1 mepndststa veepdslevl vktldsqtrt fivgaqmnvk efkehiaasv sipsekqrli
       61 yqgrvlqddk klqeynvggk vihlverapp qthlpsgass gtgsasathg ggsppgtrgp
      121 gasvhdrnan syvmvgtfnl psdgsavdvh inmeqapiqs eprvrlvmaq hmirdiqtll
      181 srmecrggpq pqhsqpppqp pavtpepval ssqtsepves eapprepmea eeveerapaq
      241 npeltpgpap agptpapetn apnhpspaey vevlqelqrl esrlqpflqr yyevlgaaat
      301 tdynnnhegr eedqrlinlv geslrllgnt fvalsdlrcn lactpprhlh vvrpmshytt
      361 pmvlqqaaip iqinvgttvt mtgngtrppp tpnaeapppg pgqassvaps stnvessaeg
      421 apppgpappp atshprviri shqsvepvvm mhmniqdsgt qpggvpsapt gplgppghgq
      481 tlgstliqlp slppefmhav ahqithqamv aavasaaagq qvpgfptapt rvviarptpp
      541 qarpshpggp pvsgtlgagl gtnaslaqmv sglvgqllmq pvlvaqgtpg mapppapata
      601 sasagttnta ttagpapggp aqppptpqps madlqfsqll gnllgpagpg aggpgvaspt
      661 itvampgvpa flqgmtdflq atqtappppp pppppppape qqtmpppgsp sggagspggl
      721 gleslspeff tsvvqgvlss llgslgarag ssesiaafiq rlsgssnife pgadgalgff
      781 gallsllcqn fsmvdvvmll hghfqplqrl qpqlrsffhq hylggqeptp snirmathtl
      841 itgleeyvre sfslvqvqpg vdiirtnlef lqeqfnsiaa hvlhctdsgf garllelcnq
      901 glfeclalnl hclggqqmel aavingrirr msrgvnpslv swlttmmglr lqvvlehmpv
      961 gpdailryvr rvgdppqplp eepmevqgae raspepqren aspapgttae eamsrgpppa
     1021 peggsrdeqd gasaetepwa aavppewvpi iqqdiqsqrk vkpqpplsda ylsgmpakrr
     1081 klrsdiqkrl qedpnyspqr fpnaqrafad dp
//
LOCUS       XP_054189435             260 aa            linear   PRI 20-MAR-2023
DEFINITION  immunoglobulin alpha Fc receptor isoform X1 [Homo sapiens].
ACCESSION   XP_054189435
VERSION     XP_054189435.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333460.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187671.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..260
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..260
                     /product="immunoglobulin alpha Fc receptor isoform X1"
                     /calculated_mol_wt=29133
     CDS             1..260
                     /gene="FCAR"
                     /gene_synonym="CD89; CTB-61M7.2; FcalphaR; FcalphaRI"
                     /coded_by="XM_054333460.1:341..1123"
                     /db_xref="GeneID:2204"
                     /db_xref="HGNC:HGNC:3608"
                     /db_xref="MIM:147045"
ORIGIN      
        1 mpfisakssp vipldgsvki qcqaireayl tqlmiiknst yreigrrlkf wnetdpefvi
       61 dhmdankagr yqcqyrighy rfrysdtlel vvtglygkpf lsadrglvlm pgenisltcs
      121 sahipfdrfs lakegelslp qhqsgehpan fslgpvdlnv sgiyrcygwy nrspylwsfp
      181 snalelvvtd sihqdyttqn lirmavaglv lvallailve nwhshtalnk easadvaeps
      241 wsqqmcqpgl tfartpsvck
//
LOCUS       XP_054194273             407 aa            linear   PRI 20-MAR-2023
DEFINITION  S100P-binding protein isoform X2 [Homo sapiens].
ACCESSION   XP_054194273
VERSION     XP_054194273.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338298.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..407
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..407
                     /product="S100P-binding protein isoform X2"
                     /calculated_mol_wt=45323
     CDS             1..407
                     /gene="S100PBP"
                     /gene_synonym="S100PBPR"
                     /coded_by="XM_054338298.1:300..1523"
                     /db_xref="GeneID:64766"
                     /db_xref="HGNC:HGNC:25768"
                     /db_xref="MIM:611889"
ORIGIN      
        1 mmcsrvpseq ssgtsllpkd gapfswdsld edglddslle lsegeeddgd vnyteeeida
       61 llkeddpsye qssgeddggh vekgergsqi lldtprekns syslgpvaet pdlfklpqls
      121 tssghgpaht kplnrrsvle knlikvtvap fnptvcdall dkdetdsskd teklsslgee
      181 mredglspne sklctesegi spnnsawngp qlsssnnnfq qtvsdknmpd senptsvfsr
      241 isdhsetpnm elscrnggsh ksscemrslv vstssnkdvl nkdsgkmkgh errlgkvipv
      301 lqtktrtnvp tfsqsnleqq kqlylrsvia hiedpedtnq gisgelcalm dqvhhmqhsk
      361 wqhpsdlttr nyarrqkhlq rysltqwvdr nmrshhrfqr lpdfsys
//
LOCUS       XP_054194844             856 aa            linear   PRI 20-MAR-2023
DEFINITION  ER degradation-enhancing alpha-mannosidase-like protein 3 isoform
            X2 [Homo sapiens].
ACCESSION   XP_054194844
VERSION     XP_054194844.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338869.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 10% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..856
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..856
                     /product="ER degradation-enhancing alpha-mannosidase-like
                     protein 3 isoform X2"
                     /calculated_mol_wt=96303
     CDS             1..856
                     /gene="EDEM3"
                     /gene_synonym="C1orf22; CDG2V"
                     /coded_by="XM_054338869.1:398..2968"
                     /db_xref="GeneID:80267"
                     /db_xref="HGNC:HGNC:16787"
                     /db_xref="MIM:610214"
ORIGIN      
        1 mpltcrgrvr gqepsrgdvd dalgkfsltl idsldtlvvl nktkefedav rkvlrdvnld
       61 ndvvvsvfet nirvlggllg ghslaimlke kgeymqwynd ellqmakqlg ykllpafntt
      121 sglpyprinl kfgirkpear tgtetdtcta cagtlilefa alsrftgati feeyarkald
      181 flwekrqrss nlvgvtinih tgdwvrkdsg vgagidsyye yllkayvllg ddsflerfnt
      241 hydaimryis qppllldvhi hkpmlnartw mdallaffpg lqvlkgdirp aiethemlyq
      301 vikkhnflpe afttdfrvhw aqhplrpefa estyflykat gdpyylevgk tlienlnkya
      361 rvpcgfaamk dvrtgshedr mdsfflaemf kylyllfadk ediifdiedy iftteahllp
      421 lwlsttnqsi skknttseyt elddsnfdwt cpntqilfpn dplyaqsire plknvvdksc
      481 prgiirvree sfrsgakppl rardfmatnp ehleilkkmg vslihlkdgr vqlvqhaiqa
      541 assidaedgl rfmqemiels sqqqkeqqlp pravqivshp ffgrvvltag paqfgldlsk
      601 hketrgfvas skpsngcsel tnpeavmgki aliqrgqcmf aekarniqna gaiggividd
      661 negsssdtap lfqmagdgkd tddikipmlf lfskegsiil daireyeeve vllsdkakdr
      721 dpemeneeqp ssendsqnqs geqissssqe vdlvdqesse enslnshpes lsladmdnaa
      781 sispseqtsn ptenhettnl ngectdldnq lqeqseteed snpnvswgkk vqpidsilad
      841 wnedieafem mekdel
//
LOCUS       XP_047299657             256 aa            linear   PRI 20-MAR-2023
DEFINITION  LOW QUALITY PROTEIN: uncharacterized protein LOC124904417 [Homo
            sapiens].
ACCESSION   XP_047299657
VERSION     XP_047299657.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047443701.1
KEYWORDS    RefSeq; corrected model.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            frameshifts :: corrected 1 indel
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..256
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..256
                     /product="LOW QUALITY PROTEIN: uncharacterized protein
                     LOC124904417"
                     /calculated_mol_wt=27721
     CDS             1..256
                     /gene="LOC124904417"
                     /coded_by="XM_047443701.1:1..771"
                     /note="The sequence of the model RefSeq protein was
                     modified relative to its source genomic sequence to
                     represent the inferred CDS: inserted 1 base in 1 codon"
                     /db_xref="GeneID:124904417"
ORIGIN      
        1 mcvcfcrggg mgpcraaqgr vgwdfsrega rpgpgpgssr hphpsxlqgt akakpssgwd
       61 yvywvdpwrg aarrdlggre kqrqrgheeg sasekgqavt itpfllpsag vtrvrqslkt
      121 wvehgpfsgd pglprsvrve lltlvagpar grsghrqppp qpqslrrplw lshsdpslkf
      181 rtlglregsg aeclppgtfl pfswsfsape lahlsnarap wiplpgafqi qqkqifffle
      241 srtksgmrsr ggkdsk
//
LOCUS       XP_054224078             240 aa            linear   PRI 20-MAR-2023
DEFINITION  zona pellucida sperm-binding protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054224078
VERSION     XP_054224078.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368103.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..240
                     /product="zona pellucida sperm-binding protein 1 isoform
                     X3"
                     /calculated_mol_wt=26372
     CDS             1..240
                     /gene="ZP1"
                     /gene_synonym="HEL163; OOMD; OOMD1; ZPB1"
                     /coded_by="XM_054368103.1:132..854"
                     /db_xref="GeneID:22917"
                     /db_xref="HGNC:HGNC:13187"
                     /db_xref="MIM:195000"
ORIGIN      
        1 mtqpgplrle lriakdetfs syygeddypi vrllrepvhv evrllqrtdp nlvlllhqcw
       61 gapsanpfqq pqwpilsdgc pfkgdsyrtq mvaldgatpf qshyqrftva tfalldsgsq
      121 ralrglvylf cstsachtsg letcstacst gttrqrrssg hrndtarpqd ivsspgpvgf
      181 edsygqeptl gptdsngnss lrpllwavll lpavalvlgf gvfvglsqtw aqklwesnrq
//
LOCUS       XP_054229330             543 aa            linear   PRI 20-MAR-2023
DEFINITION  cysteine/serine-rich nuclear protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054229330
VERSION     XP_054229330.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373355.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..543
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..543
                     /product="cysteine/serine-rich nuclear protein 2 isoform
                     X1"
                     /calculated_mol_wt=59490
     CDS             1..543
                     /gene="CSRNP2"
                     /gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
                     TAIP-12"
                     /coded_by="XM_054373355.1:629..2260"
                     /db_xref="GeneID:81566"
                     /db_xref="HGNC:HGNC:16006"
ORIGIN      
        1 mdaftgsglk rkfddvdvgs svsnsddeis ssdsadscds lnppttasft ptsilkrqkq
       61 lrrknvrfdq vtvyyfarrq gftsvpsqgg sslgmaqrhn svrsytlcef aqeqevnhre
      121 ilrehlkeek lhakkmkltk ngtvesvead gltlddvsde didvenvevd dyfflqplpt
      181 krrrallras gvhridaeek qelrairlsr eecgcdcrly cdpeacacsq agikcqvdrm
      241 sfpcgcsrdg cgnmagrief npirvrthyl htimkleles krqvsrpaap deepsptasc
      301 sltgaqgset qdfqefiaen etavmhlqsa eelerlkaee dssgssasld ssieslgvci
      361 leeplavpee lcpgltapil iqaqlppgss vlcftensdh ptastvnsps ylnsgplvyy
      421 qveqrpvlgv kgepgmeegs asfpkekdln vfslpvtslv acsstdpaal cksevgktpt
      481 leallpedcn peepenedfh pswspsslpf rtdneegcgm vktsqqnedr ppedsslelp
      541 lav
//
LOCUS       XP_054230973             206 aa            linear   PRI 20-MAR-2023
DEFINITION  dehydrogenase/reductase SDR family member 12 isoform X22 [Homo
            sapiens].
ACCESSION   XP_054230973
VERSION     XP_054230973.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374998.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..206
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..206
                     /product="dehydrogenase/reductase SDR family member 12
                     isoform X22"
                     /calculated_mol_wt=22765
     CDS             1..206
                     /gene="DHRS12"
                     /gene_synonym="SDR40C1"
                     /coded_by="XM_054374998.1:119..739"
                     /db_xref="GeneID:79758"
                     /db_xref="HGNC:HGNC:25832"
                     /db_xref="MIM:616163"
ORIGIN      
        1 mnlhvktlsl mtwrsrflee sfwsleetaa lakqlplksp seniflhivd lsdpkkiwkf
       61 venfkqehkl hvlinnagcm vnkreltedg leknfaantl gvyilttgli pvlekehdpr
      121 vqkglgscss vqglgmrsvs wsiqitvssg gmlvqklntn dlqsertpfd gtmvyaqnkg
      181 ahivckaast lrlpcrccvp seggpv
//
LOCUS       XP_054232957             759 aa            linear   PRI 20-MAR-2023
DEFINITION  exocyst complex component 3-like protein 4 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054232957
VERSION     XP_054232957.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376982.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..759
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..759
                     /product="exocyst complex component 3-like protein 4
                     isoform X3"
                     /calculated_mol_wt=83866
     CDS             1..759
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /coded_by="XM_054376982.1:154..2433"
                     /db_xref="GeneID:91828"
                     /db_xref="HGNC:HGNC:20120"
ORIGIN      
        1 meswsdclrn ekevgtslkv kllsrlwepq gsspaakmps pqtdtpgpel qspkeaeepq
       61 tpaqgsrrts srkepnahrk dgtrlglgsl rqafsrasqr altqvskedt glfrrsscsl
      121 frsfrqalnd gpatghsqat pevpsgvmng vsqqastgaa seelkpeaeg ksvadliter
      181 qllaafeqll rletllvaek asrtfeqdpt afarramdvc llydglaaei gaivretlds
      241 dgvdaaalae larvvsaeee ahpsppddgd flrtprrwrq hweeavrrsa qervrrpgag
      301 wafgeaegas glaqllaelg glvrrdlqkv rqevqpayaa agfpawevyl rafhsavaqr
      361 lqelardarg cgqlyilldw aanvygspdf lgapglalpa eplppllapd vwarlesdyt
      421 sfleakiasc fdsilqleqs hwaaaevpev lqglyqapls mdvhmlvaeh vkaagaisae
      481 leattlrict ralglfvprf ekaflaseav sephlgayin aceelrtsll srfpgtqeel
      541 ekplvtatcs fqkhllqglq relqplfrvv ctrdwltqdw lhplmdkvvt faghlqrvar
      601 praqetlqev hrfvvreyla ralrprerfr gmermhgsqk msldaqaisd tfqglgseat
      661 wldqaiqcva eilgetykdd iqrhletlir sypdirrdhi lailalrrlg rrrnqhllqh
      721 tedllraaag aagaeaprgr vlfeeikvps amavlitcv
//
LOCUS       XP_054233302             368 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM81A isoform X2 [Homo sapiens].
ACCESSION   XP_054233302
VERSION     XP_054233302.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377327.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..368
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..368
                     /product="protein FAM81A isoform X2"
                     /calculated_mol_wt=42261
     CDS             1..368
                     /gene="FAM81A"
                     /coded_by="XM_054377327.1:326..1432"
                     /db_xref="GeneID:145773"
                     /db_xref="HGNC:HGNC:28379"
ORIGIN      
        1 menmhlrrvr tmprhsqslt mapyssvslv eqledrilch ekttaalveh afrikddivn
       61 slqkmqnkgg gdrlarlfle ehirnitaiv kqlnrdievl qeqirardni sygtnsalkt
      121 lemrqlsglg dlrgrvarcd asiarlsaeh kttyeglqhl nkeqqaakli letkikdaeg
      181 qisqllnrvd lsiseqstkl kmshrdsnhq lqlldtkfkg tveelsnqil sarswlqqeq
      241 eriekellqk idqlslivke nsgaserdme kklsqmsarl dkieegqkkt fdgqrtrqee
      301 ekmhgritkl elqmnqnike mkaevnagft avyesigslr qvleakmkld rdqlqkqiql
      361 mqkpetpm
//
LOCUS       XP_054234136             261 aa            linear   PRI 20-MAR-2023
DEFINITION  ras-like protein family member 12 isoform X1 [Homo sapiens].
ACCESSION   XP_054234136
VERSION     XP_054234136.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378161.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..261
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..261
                     /product="ras-like protein family member 12 isoform X1"
                     /calculated_mol_wt=29553
     CDS             1..261
                     /gene="RASL12"
                     /gene_synonym="RIS"
                     /coded_by="XM_054378161.1:106..891"
                     /db_xref="GeneID:51285"
                     /db_xref="HGNC:HGNC:30289"
ORIGIN      
        1 mkprtlemgl fscrrtssgh pwilhygkls ltvkfltkrf iseydpnled tysseetvdh
       61 qpvhlrvmdt adldtprnce rylnwahafl vvysvdsrqs fdssssylel lalhaketqr
      121 sipalllgnk ldmaqyrqvt kaegvalagr fgclffevsa cldfehvqhv fheavrearr
      181 elekspltrp lfiseeralp hqapltarhg lasctfntls tinlkemptv aqaklvtvks
      241 sraqskrkap tltllkgfki f
//
LOCUS       XP_054169805             184 aa            linear   PRI 20-MAR-2023
DEFINITION  SUMO-conjugating enzyme UBC9 isoform X1 [Homo sapiens].
ACCESSION   XP_054169805
VERSION     XP_054169805.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313830.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 10% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..184
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..184
                     /product="SUMO-conjugating enzyme UBC9 isoform X1"
                     /calculated_mol_wt=20312
     CDS             1..184
                     /gene="UBE2I"
                     /gene_synonym="C358B7.1; P18; UBC9"
                     /coded_by="XM_054313830.1:407..961"
                     /db_xref="GeneID:7329"
                     /db_xref="HGNC:HGNC:12485"
                     /db_xref="MIM:601661"
ORIGIN      
        1 msgialsrla qerkawrkdh pfgfvavptk npdgtmnlmn wecaipgkkg tpwegglfkl
       61 rmlfkddyps sppkckfepp lfhpnvypsg tvclsileed kdwrpaitik qillgiqell
      121 nepniqdpaq aeaytiywlv aalaplvaap prpsqgrlag rewstqahpr dsqgprlcge
      181 grga
//
LOCUS       XP_054172149             301 aa            linear   PRI 20-MAR-2023
DEFINITION  max-binding protein MNT isoform X3 [Homo sapiens].
ACCESSION   XP_054172149
VERSION     XP_054172149.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316174.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..301
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..301
                     /product="max-binding protein MNT isoform X3"
                     /calculated_mol_wt=31415
     CDS             1..301
                     /gene="MNT"
                     /gene_synonym="bHLHd3; lncRNA-HAL; MAD6; MXD6; ROX"
                     /coded_by="XM_054316174.1:3955..4860"
                     /db_xref="GeneID:4335"
                     /db_xref="HGNC:HGNC:7188"
                     /db_xref="MIM:603039"
ORIGIN      
        1 merlarekia tqqrlaelkh elsqwmdvle idrvlrqtgq peddqastst asegednide
       61 dmeedraglg ppklshrpqp ellkstlppp sttpaplpph phphphsval ppahlpvqqq
      121 qpqqktplpa pppppaapaq tlvpapahlv atagggstvi ahtatthasv iqtvnhvlqg
      181 pggkhiahia psapspavql apatppighi tvhpatlnhv ahlgsqlply pqpvavshia
      241 htlshqqvng taglgppatv makpavgaqv vhhpqlvgqt vlnpvtmvtm psfpvstlkl
      301 a
//
LOCUS       XP_054173003             380 aa            linear   PRI 20-MAR-2023
DEFINITION  hepatocyte nuclear factor 1-beta isoform X4 [Homo sapiens].
ACCESSION   XP_054173003
VERSION     XP_054173003.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317028.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..380
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..380
                     /product="hepatocyte nuclear factor 1-beta isoform X4"
                     /calculated_mol_wt=42462
     CDS             1..380
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /coded_by="XM_054317028.1:176..1318"
                     /db_xref="GeneID:6928"
                     /db_xref="HGNC:HGNC:11630"
                     /db_xref="MIM:189907"
ORIGIN      
        1 mvskltslqq ellsallssg vtkevlvqal eellpspnfg vkletlplsp gsgaepdtkp
       61 vfhtltngha kgrlsgdegs edgddydtpp ilkelqalnt eeaaeqraev drmlsedpwr
      121 aakmikgymq qhnipqrevv dvtglnqshl sqhlnkgtpm ktqkraalyt wyvrkqreil
      181 rqfnqtvqss gnmtdkssqd qllflfpefs qqshgpgqsd dacseptnkk mrrnrfkwgp
      241 asqqilyqay drqknpskee realveecnr aeclqrgvsp skahglgsnl vtevrvynwf
      301 anrrkeeafr qklamdayss nqthslnpll shgsphhqps ssppnklsgv lwmetemsgr
      361 ssslsttlqp geleglhpyl
//
LOCUS       XP_054181842             689 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 5 member 4 isoform X1 [Homo sapiens].
ACCESSION   XP_054181842
VERSION     XP_054181842.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325867.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..689
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..689
                     /product="solute carrier family 5 member 4 isoform X1"
                     /calculated_mol_wt=75758
     CDS             1..689
                     /gene="SLC5A4"
                     /gene_synonym="DJ90G24.4; SAAT1; SGLT3"
                     /coded_by="XM_054325867.1:243..2312"
                     /db_xref="GeneID:6527"
                     /db_xref="HGNC:HGNC:11039"
                     /db_xref="MIM:618633"
ORIGIN      
        1 mpgggaacwr lelvapplas lwlvaametk dsalewwrcv evyeetwsgs klsvpvllse
       61 tptkrhgpla shnhsamlkt nrgtiggffl agrdmawwpm gaslfasnig snhyvglagt
      121 gaasgvatvt fewtssvmll ilgwifvpiy iksgvmtmpe ylkkrfgger lqvylsilsl
      181 ficvvllisa difagaifik lalgldlyla ifillamtav ytttgglasv iytdtlqtii
      241 mligsfilmg fafnevggye sftekyvnat psvvegdnlt isascytpra dsfhifrdav
      301 tgdipwpgii fgmpitalwy wctnqvivqr clcgkdmshv kaacimcayl kllpmflmvm
      361 pgmisrilyt dmvacvvpse cvkhcgvdvg ctnyayptmv lelmpqglrg lmlsvmlasl
      421 mssltsifns astlftidly tkmrkqasek elliagrifv llltvvsivw vplvqvsqng
      481 qlihytesis sylgppiaav fvlaifckrv neqgafwglm vglamglirm itefaygtgs
      541 clapsncpki icgvhylyfs ivlffgsmlv tlgislltkp ipdvhlyrlc wvlrnsteer
      601 ididaeeksq eetddgveed ypeksrgclk kaydlfcglq kgpkltkeee ealskkltdt
      661 serpswrtiv ninailllav vvfihgyya
//
LOCUS       XP_054203680             361 aa            linear   PRI 20-MAR-2023
DEFINITION  translocation protein SEC62 isoform X1 [Homo sapiens].
ACCESSION   XP_054203680
VERSION     XP_054203680.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347705.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..361
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..361
                     /product="translocation protein SEC62 isoform X1"
                     /calculated_mol_wt=41232
     CDS             1..361
                     /gene="SEC62"
                     /gene_synonym="Dtrp1; HTP1; TLOC1; TP-1"
                     /coded_by="XM_054347705.1:228..1313"
                     /db_xref="GeneID:7095"
                     /db_xref="HGNC:HGNC:11846"
                     /db_xref="MIM:602173"
ORIGIN      
        1 mmghrvdyfi askavdclld skwakakkge ealfttresv vdycnrllkk qffhralkvm
       61 kmkydkdikk ekdkgkaesg keedkkskke nikdektkke kekkkdgeke eskkeetpgt
      121 pkkketkkkf klephddqvf ldgnevyvwi ydpvhfktfv mglilviavi aatlfplwpa
      181 emrvgvyyls vgagcfvasi lllavarcil fliiwlitgg rhhfwflpnl tadvgfidsf
      241 rplytheykg pkadlkkdek setkkqqksd seeksdsekk edeegkvgpg nhgtegsgge
      301 rhsdtdsdrr eddrsqhssg ngndfemitk eeleqqtdgd ceedeeeend getpksshek
      361 s
//
LOCUS       XP_054208626             445 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-1,3-mannosyl-glycoprotein
            2-beta-N-acetylglucosaminyltransferase isoform X1 [Homo sapiens].
ACCESSION   XP_054208626
VERSION     XP_054208626.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352651.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..445
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..445
                     /product="alpha-1,3-mannosyl-glycoprotein
                     2-beta-N-acetylglucosaminyltransferase isoform X1"
                     /calculated_mol_wt=50731
     CDS             1..445
                     /gene="MGAT1"
                     /gene_synonym="GLCNAC-TI; GLCT1; GLYT1; GNT-1; GNT-I;
                     GnTI; MGAT"
                     /coded_by="XM_054352651.1:727..2064"
                     /db_xref="GeneID:4245"
                     /db_xref="HGNC:HGNC:7044"
                     /db_xref="MIM:160995"
ORIGIN      
        1 mlkkqsaglv lwgailfvaw nallllffwt rpapgrppsv saldgdpasl trevirlaqd
       61 aevelerqrg llqqigdals sqrgrvptaa ppaqprvpvt papavipilv iacdrstvrr
      121 cldkllhyrp saelfpiivs qdcgheetaq aiasygsavt hirqpdlssi avppdhrkfq
      181 gyykiarhyr walgqvfrqf rfpaavvved dlevapdffe yfratypllk adpslwcvsa
      241 wndngkeqmv dasrpellyr tdffpglgwl llaelwaele pkwpkafwdd wmrrpeqrqg
      301 racirpeisr tmtfgrkgvs hgqffdqhlk fiklnqqfvh ftqldlsylq reaydrdfla
      361 rvygapqlqv ekvrtndrke lgevrvqytg rdsfkafaka lgvmddlksg vpragyrgiv
      421 tfqfrgrrvh lappptwegy dpswn
//
LOCUS       XP_054212035            1336 aa            linear   PRI 20-MAR-2023
DEFINITION  AT-rich interactive domain-containing protein 1B isoform X31 [Homo
            sapiens].
ACCESSION   XP_054212035
VERSION     XP_054212035.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356060.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1336
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1336
                     /product="AT-rich interactive domain-containing protein 1B
                     isoform X31"
                     /calculated_mol_wt=147053
     CDS             1..1336
                     /gene="ARID1B"
                     /gene_synonym="6A3-5; BAF250B; BRIGHT; CSS1; DAN15;
                     ELD/OSA1; MRD12; OSA2; P250R; SMARCF2"
                     /coded_by="XM_054356060.1:93..4103"
                     /db_xref="GeneID:57492"
                     /db_xref="HGNC:HGNC:18040"
                     /db_xref="MIM:614556"
ORIGIN      
        1 mnqsglmass spysqpmnns sslmntqapp ysmapamvns saasvgladm mspgesklpl
       61 plkadgkeeg tpqpeskskd syssqgisqp ptpgnlpvps pmspssasis sfhgdesdsi
      121 sspgwpktps spkssssttt gekitkvyel gneperklwv dryltfmeer gspvsslpav
      181 gkkpldlfrl yvcvkeiggl aqvnknkkwr elatnlnvgt sssaasslkk qyiqylfafe
      241 ckiergeepp pevfstgdtk kqpklqppsp ansgslqgpq tpqstgsnsm aevpgdlkpp
      301 tpastphgqm tpmqggrsst isvhdpfsdv sdssfpkrns mtpnapyqqg msmpdvmgrm
      361 pyepnkdpfg gmrkvpgsse pfmtqgqmpn ssmqdmynqs psgamsnlgm gqrqqfpyga
      421 sydrrhepyg qqypgqgpps gqppygghqp glypqqpnyk rhmdgmygpp akrhegdmyn
      481 mqyssqqqem ynqyggsysg pdrrpiqgqy pypysrermq gpgqiqthgi ppqmmggplq
      541 ssssegpqqn mwaarndmpy pyqnrqgpgg ptqappypgm nrtddmmvpd qrinhesqwp
      601 shvsqrqpym sssasmqpit rppqpsyqtp pslpnhisra pspasfqrsl enrmspsksp
      661 flpsmkmqkv mptvptsqvt gpppqpppir reitfppgsv easqpvlkqr rkitskdivt
      721 peawrvmmsl ksgllaestw aldtinilly ddstvatfnl sqlsgflell veyfrkclid
      781 ifgilmeyev gdpsqkaldh naarkddsqs laddsgkeee daecidddee deedeeedse
      841 ktesdekssi altapdaaad pkekpkqask fdklpikivk knnlfvvdrs dklgrvqefn
      901 sgllhwqlgg gdttehiqth feskmeippr rrpppplssa grkkeqegkg dseeqqeksi
      961 iatiddvlsa rpgalpedan pgpqtesskf pfgiqqaksh rniklledep rsrdetplct
     1021 iahwqdslak rcicvsnivr slsfvpgnda emskhpglvl ilgklillhh ehperkrapq
     1081 tyekeededk gvacskdeww wdclevlrdn tlvtlanisg qldlsaytes iclpildgll
     1141 hwmvcpsaea qdpfptvgpn svlspqrlvl etlcklsiqd nnvdlilatp pfsrqekfya
     1201 tlvryvgdrk npvcremsma llsnlaqgda laaraiavqk gsignlisfl edgvtmaqyq
     1261 qsqhnlmhmq pppleppsvd mmcraakall amarvdenrs efllhegrll disisavlns
     1321 lvasvicdvl fqigql
//
LOCUS       XP_054212087             159 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 SUMO-protein ligase KIAA1586 isoform X1 [Homo sapiens].
ACCESSION   XP_054212087
VERSION     XP_054212087.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356112.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..159
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..159
                     /product="E3 SUMO-protein ligase KIAA1586 isoform X1"
                     /calculated_mol_wt=18146
     CDS             1..159
                     /gene="KIAA1586"
                     /coded_by="XM_054356112.1:64..543"
                     /db_xref="GeneID:57691"
                     /db_xref="HGNC:HGNC:21360"
ORIGIN      
        1 mgdpgseiie svppagpeas esttdenedd iqfvsegpsr pvleyidlvc gddenpsayy
       61 sdilfpkmpk rqgdflhfln vkkvktdten nevsknhcrl skakephfey ieqpiieekp
      121 slsskkeidn lvlpdcwnek qafmfteqyk wleikevyt
//
LOCUS       XP_054183232             799 aa            linear   PRI 20-MAR-2023
DEFINITION  neuroligin-3 isoform X2 [Homo sapiens].
ACCESSION   XP_054183232
VERSION     XP_054183232.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327257.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..799
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..799
                     /product="neuroligin-3 isoform X2"
                     /calculated_mol_wt=88626
     CDS             1..799
                     /gene="NLGN3"
                     /gene_synonym="HNL3"
                     /coded_by="XM_054327257.1:302..2701"
                     /db_xref="GeneID:54413"
                     /db_xref="HGNC:HGNC:14289"
                     /db_xref="MIM:300336"
ORIGIN      
        1 mclsvllflf lsppmchhya acvwiftyag lsgpegvpfl klwclddlls tllgtlcpqn
       61 ihtavpevml pvwftanldi vatyiqepne dclylnvyvp tedvkriske carkpnkkic
      121 rkggsgakkq gedladndgd ededirdsga kpvmvyihgg symegtgnmi dgsilasygn
      181 vivitlnyrv gvlgflstgd qaakgnygll dqiqalrwvs eniaffggdp rritvfgsgi
      241 gascvslltl shhseglfqr aiiqsgsals swavnyqpvk ytslladkvg cnvldtvdmv
      301 dclrqksake lveqdiqpar yhvafgpvid gdvipddpei lmeqgeflny dimlgvnqge
      361 glkfvegvvd pedgvsgtdf dysvsnfvdn lygypegkdt lretikfmyt dwadrdnpet
      421 rrktlvalft dhqwvepsvv tadlharygs ptyfyafyhh cqslmkpaws daahgdevpy
      481 vfgvpmvgpt dlfpcnfskn dvmlsavvmt ywtnfaktgd pnkpvpqdtk fihtkanrfe
      541 evawskynpr dqlylhiglk prvrdhyrat kvafwkhlvp hlynlhdmfh ytstttkvpp
      601 pdtthsshit rrpngktwst krpaispays nenaqgswng dqdagpllve nprdystels
      661 vtiavgasll flnvlafaal yyrkdkrrqe plrqpspqrg agapelgaap eeelaalqlg
      721 pthheceagp phdtlrltal pdytltlrrs pddiplmtpn titmipnslv glqtlhpynt
      781 faagfnstgl phshsttrv
//
LOCUS       NP_001293137             596 aa            linear   PRI 22-MAR-2023
DEFINITION  transcription factor 4 isoform n [Homo sapiens].
ACCESSION   NP_001293137 XP_005266807
VERSION     NP_001293137.1
DBSOURCE    REFSEQ: accession NM_001306208.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 596)
  AUTHORS   Popp B, Bienvenu T, Giurgea I, Metreau J, Kraus C, Reis A, Fischer
            J, Bralo MP, Tenorio-Castano J, Lapunzina P, Almoguera B,
            Lopez-Grondona F, Sticht H and Zweier C.
  TITLE     The recurrent TCF4 missense variant p.(Arg389Cys) causes a
            neurodevelopmental disorder overlapping with but not typical for
            Pitt-Hopkins syndrome
  JOURNAL   Clin Genet 102 (6), 517-523 (2022)
   PUBMED   35908153
  REMARK    GeneRIF: The recurrent TCF4 missense variant p.(Arg389Cys) causes a
            neurodevelopmental disorder overlapping with but not typical for
            Pitt-Hopkins syndrome.
REFERENCE   2  (residues 1 to 596)
  AUTHORS   Azmerin M, Hussain MS, Aziz MA, Barek MA, Begum M, Sen N, Rahman
            MA, Shahriar M, Baeesa SS, Ashraf GM and Islam MS.
  TITLE     TF and TCF4 gene polymorphisms are linked to autism spectrum
            disorder: a case-control study
  JOURNAL   J Int Med Res 50 (11), 3000605221138492 (2022)
   PUBMED   36448207
  REMARK    GeneRIF: TF and TCF4 gene polymorphisms are linked to autism
            spectrum disorder: a case-control study.
REFERENCE   3  (residues 1 to 596)
  AUTHORS   Mokhtari MA, Sargazi S, Saravani R, Heidari Nia M, Mirinejad S,
            Hadzsiev K, Bene J and Shakiba M.
  TITLE     Genetic Polymorphisms in miR-137 and Its Target Genes, TCF4 and
            CACNA1C, Contribute to the Risk of Bipolar Disorder: A Preliminary
            Case-Control Study and Bioinformatics Analysis
  JOURNAL   Dis Markers 2022, 1886658 (2022)
   PUBMED   36193501
  REMARK    GeneRIF: Genetic Polymorphisms in miR-137 and Its Target Genes,
            TCF4 and CACNA1C, Contribute to the Risk of Bipolar Disorder: A
            Preliminary Case-Control Study and Bioinformatics Analysis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 596)
  AUTHORS   Neogi K, Tewari M, Singh AK, Sharma K, Tej GNVC, Verma SS, Gupta SC
            and Nayak PK.
  TITLE     Transcription factor 4 expression and correlation with tumor
            progression in gallbladder cancer
  JOURNAL   J Cancer Res Ther 18 (3), 668-676 (2022)
   PUBMED   35900539
  REMARK    GeneRIF: Transcription factor 4 expression and correlation with
            tumor progression in gallbladder cancer.
REFERENCE   5  (residues 1 to 596)
  AUTHORS   Goldfarb AN, Lewandowska K and Shoham M.
  TITLE     Determinants of helix-loop-helix dimerization affinity. Random
            mutational analysis of SCL/tal
  JOURNAL   J Biol Chem 271 (5), 2683-2688 (1996)
   PUBMED   8576241
REFERENCE   6  (residues 1 to 596)
  AUTHORS   Sweetser,D.A., Elsharkawi,I., Yonker,L., Steeves,M., Parkin,K. and
            Thibert,R.
  TITLE     Pitt-Hopkins Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22934316
REFERENCE   7  (residues 1 to 596)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301612
REFERENCE   8  (residues 1 to 596)
  AUTHORS   Corneliussen B, Thornell A, Hallberg B and Grundstrom T.
  TITLE     Helix-loop-helix transcriptional activators bind to a sequence in
            glucocorticoid response elements of retrovirus enhancers
  JOURNAL   J Virol 65 (11), 6084-6093 (1991)
   PUBMED   1681116
REFERENCE   9  (residues 1 to 596)
  AUTHORS   Henthorn P, McCarrick-Walmsley R and Kadesch T.
  TITLE     Sequence of the cDNA encoding ITF-2, a positive-acting
            transcription factor
  JOURNAL   Nucleic Acids Res 18 (3), 678 (1990)
   PUBMED   2308860
REFERENCE   10 (residues 1 to 596)
  AUTHORS   Henthorn P, Kiledjian M and Kadesch T.
  TITLE     Two distinct transcription factors that bind the immunoglobulin
            enhancer microE5/kappa 2 motif
  JOURNAL   Science 247 (4941), 467-470 (1990)
   PUBMED   2105528
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK095041.1, FR748219.1 and
            AC091103.4.
            On Apr 16, 2015 this sequence version replaced XP_005266807.1.
            
            Summary: This gene encodes transcription factor 4, a basic
            helix-loop-helix transcription factor. The encoded protein
            recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a
            motif first identified in immunoglobulin enhancers. This gene is
            broadly expressed, and may play an important role in nervous system
            development. Defects in this gene are a cause of Pitt-Hopkins
            syndrome. In addition, an intronic CTG repeat normally numbering
            10-37 repeat units can expand to >50 repeat units and cause Fuchs
            endothelial corneal dystrophy. Multiple alternatively spliced
            transcript variants that encode different proteins have been
            described. [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (14) differs in the 5' UTR and
            coding sequence, and uses two alternate in-frame splice sites in
            the coding region, compared to variant 3. The encoded isoform (n)
            has a shorter and distinct N-terminus compared to isoform c.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments. Sequence
            Note: This gene is distinct from TCF7L2 (alias TCF-4).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: FR748219.1, SRR7410570.642107.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..596
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.2"
     Protein         1..596
                     /product="transcription factor 4 isoform n"
                     /note="immunoglobulin transcription factor 2; SL3-3
                     enhancer factor 2; class B basic helix-loop-helix protein
                     19"
                     /calculated_mol_wt=63985
     Region          487..571
                     /region_name="bHLH_E-protein_TCF4_E2-2"
                     /note="basic helix-loop-helix (bHLH) domain found in
                     transcription factor 4 (TCF-4) and similar proteins;
                     cd18945"
                     /db_xref="CDD:381515"
     Site            order(495,499,501..503,505,510,531..532)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381515"
     Site            order(508..509,512..513,515..516,519,523,533,536,540,543,
                     546..551)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381515"
     CDS             1..596
                     /gene="TCF4"
                     /gene_synonym="bHLHb19; CDG2T; E2-2; FCD2; FECD3; ITF-2;
                     ITF2; PTHS; SEF-2; SEF2; SEF2-1; SEF2-1A; SEF2-1B;
                     SEF2-1D; TCF-4"
                     /coded_by="NM_001306208.1:282..2072"
                     /note="isoform n is encoded by transcript variant 14"
                     /db_xref="CCDS:CCDS77191.1"
                     /db_xref="GeneID:6925"
                     /db_xref="HGNC:HGNC:11634"
                     /db_xref="MIM:602272"
ORIGIN      
        1 mkdiffqfii arvrkcysls clhtlpvvpt lrktergsys sygresnlqg chqsllggdm
       61 dmgnpgtlsp tkpgsqyyqy ssnnprrrpl hssamevqtk kvrkvppglp ssvyapsast
      121 adynrdspgy psskpatstf pssffmqdgh hssdpwssss gmnqpgyagm lgnsshipqs
      181 ssycslhphe rlsypshssa dinsslppms tfhrsgtnhy stssctppan gtdsimanrg
      241 sgaagssqtg dalgkalasi yspdhtnnsf ssnpstpvgs ppslsagtav wsrnggqass
      301 spnyegplhs lqsriedrle rlddaihvlr nhavgpstam pgghgdmhgi igpshngamg
      361 glgsgygtgl lsanrhslmv gthredgval rgshsllpnq vpvpqlpvqs atspdlnppq
      421 dpyrgmppgl qgqsvssgss eiksddegde nlqdtkssed kkldddkkdi ksitsnndde
      481 dltpeqkaer ekerrmanna rerlrvrdin eafkelgrmv qlhlksdkpq tkllilhqav
      541 avilsleqqv rernlnpkaa clkrreeekv sseppplsla gphpgmgdas nhmgqm
//
LOCUS       NP_001385407             153 aa            linear   PRI 23-MAR-2023
DEFINITION  taurine up-regulated 1 [Homo sapiens].
ACCESSION   NP_001385407
VERSION     NP_001385407.1
DBSOURCE    REFSEQ: accession NM_001398478.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 153)
  AUTHORS   Pillai PP, Kannan M, Sil S, Singh S, Thangaraj A, Chivero ET, Dagur
            RS, Tripathi A, Hu G, Periyasamy P and Buch S.
  TITLE     Involvement of lncRNA TUG1 in HIV-1 Tat-Induced Astrocyte
            Senescence
  JOURNAL   Int J Mol Sci 24 (5), 4330 (2023)
   PUBMED   36901763
  REMARK    GeneRIF: Involvement of lncRNA TUG1 in HIV-1 Tat-Induced Astrocyte
            Senescence.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 153)
  AUTHORS   Lu P, Jiang Y and Xia Z.
  TITLE     Long noncoding RNA TUG1 decreases bladder cancer chemo-sensitivity
            toward doxorubicin through elevating KPNA2 expression and
            activating the PI3K/AKT pathway via adsorbing miR-582-5p
  JOURNAL   Anticancer Drugs 34 (1), 144-154 (2023)
   PUBMED   36539367
  REMARK    GeneRIF: Long noncoding RNA TUG1 decreases bladder cancer
            chemo-sensitivity toward doxorubicin through elevating KPNA2
            expression and activating the PI3K/AKT pathway via adsorbing
            miR-582-5p.
REFERENCE   3  (residues 1 to 153)
  AUTHORS   Abushouk AI, Kattan SW, Ahmedah HT, Baothman E, Shaheen S, Toraih
            EA and Fawzy MS.
  TITLE     Expression of oncolong noncoding RNA taurine-upregulated gene-1 in
            colon cancer: A clinical study supported by in silico analysis
  JOURNAL   J Cancer Res Ther 18 (Supplement), S374-S382 (2022)
   PUBMED   36510991
  REMARK    GeneRIF: Expression of oncolong noncoding RNA taurine-upregulated
            gene-1 in colon cancer: A clinical study supported by in silico
            analysis.
REFERENCE   4  (residues 1 to 153)
  AUTHORS   Da M, Zhuang J, Zhou Y, Qi Q and Han S.
  TITLE     Role of long noncoding RNA taurine-upregulated gene 1 in cancers
  JOURNAL   Mol Med 27 (1), 51 (2021)
   PUBMED   34039257
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 153)
  AUTHORS   Lewandowski JP, Dumbovic G, Watson AR, Hwang T, Jacobs-Palmer E,
            Chang N, Much C, Turner KM, Kirby C, Rubinstein ND, Groff AF,
            Liapis SC, Gerhardinger C, Bester A, Pandolfi PP, Clohessy JG,
            Hoekstra HE, Sauvageau M and Rinn JL.
  TITLE     The Tug1 lncRNA locus is essential for male fertility
  JOURNAL   Genome Biol 21 (1), 237 (2020)
   PUBMED   32894169
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 153)
  AUTHORS   Fu C, Chen M, Hu S and Huang J.
  TITLE     Taurine up-regulated gene 1 and disease development
  JOURNAL   Zhong Nan Da Xue Xue Bao Yi Xue Ban 45 (9), 1127-1135 (2020)
   PUBMED   33051429
  REMARK    GeneRIF: Taurine up-regulated gene 1 and disease development.',
            trans '1.
REFERENCE   7  (residues 1 to 153)
  AUTHORS   van Heesch S, Witte F, Schneider-Lunitz V, Schulz JF, Adami E,
            Faber AB, Kirchner M, Maatz H, Blachut S, Sandmann CL, Kanda M,
            Worth CL, Schafer S, Calviello L, Merriott R, Patone G, Hummel O,
            Wyler E, Obermayer B, Mucke MB, Lindberg EL, Trnka F, Memczak S,
            Schilling M, Felkin LE, Barton PJR, Quaife NM, Vanezis K, Diecke S,
            Mukai M, Mah N, Oh SJ, Kurtz A, Schramm C, Schwinge D, Sebode M,
            Harakalova M, Asselbergs FW, Vink A, de Weger RA, Viswanathan S,
            Widjaja AA, Gartner-Rommel A, Milting H, Dos Remedios C, Knosalla
            C, Mertins P, Landthaler M, Vingron M, Linke WA, Seidman JG,
            Seidman CE, Rajewsky N, Ohler U, Cook SA and Hubner N.
  TITLE     The Translational Landscape of the Human Heart
  JOURNAL   Cell 178 (1), 242-260 (2019)
   PUBMED   31155234
  REMARK    GeneRIF: Figure 4G shows that this RNA actually encodes a small
            protein localized to mitochondria.
REFERENCE   8  (residues 1 to 153)
  AUTHORS   Yang L, Lin C, Liu W, Zhang J, Ohgi KA, Grinstein JD, Dorrestein PC
            and Rosenfeld MG.
  TITLE     ncRNA- and Pc2 methylation-dependent gene relocation between
            nuclear structures mediates gene activation programs
  JOURNAL   Cell 147 (4), 773-788 (2011)
   PUBMED   22078878
  REMARK    GeneRIF: Pc2, methylation controls the protein's interaction with
            two distinct ncRNAs, TUG1 and NEAT2, which results in the exclusive
            subnuclear localization of methylated and unmethylated Pc2 in
            Polycomb bodies and interchromatin granules, respectively.
            Erratum:[Cell. 2013 Oct 10;155(2):478]
REFERENCE   9  (residues 1 to 153)
  AUTHORS   Rapicavoli NA and Blackshaw S.
  TITLE     New meaning in the message: noncoding RNAs and their role in
            retinal development
  JOURNAL   Dev Dyn 238 (9), 2103-2114 (2009)
   PUBMED   19191220
  REMARK    Review article
REFERENCE   10 (residues 1 to 153)
  AUTHORS   Young TL, Matsuda T and Cepko CL.
  TITLE     The noncoding RNA taurine upregulated gene 1 is required for
            differentiation of the murine retina
  JOURNAL   Curr Biol 15 (6), 501-512 (2005)
   PUBMED   15797018
  REMARK    GeneRIF: taurine upregulated gene 1 (TUG1) is necessary for the
            proper formation of photoreceptors in the developing rodent retina
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004542.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.19902.1,
                                           SRR14038196.564895.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            NMD candidate            :: translation inferred from conservation
            non-AUG initiation codon :: inferred from conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..153
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..153
                     /product="taurine up-regulated 1"
                     /note="taurine upregulated gene 1"
                     /calculated_mol_wt=15875
     CDS             1..153
                     /gene="TUG1"
                     /gene_synonym="LINC00080; NCRNA00080; TI-227H"
                     /coded_by="NM_001398478.1:93..554"
                     /note="non-AUG (CUG) translation initiation codon"
                     /db_xref="CCDS:CCDS93148.1"
                     /db_xref="GeneID:55000"
                     /db_xref="HGNC:HGNC:26066"
                     /db_xref="MIM:614971"
ORIGIN      
        1 marppplpgl vgrrngravd raigwrlfll lwhpalgaqa rpprrapggr wrsrrvfllv
       61 rrtraaayaf airrgvvrvv ggggqllrpa pgeaaaaaaa gfgaageagv agagleawrh
      121 psgpartqlg gqegaggwlv vgfllclfll mpp
//
LOCUS       NP_001954               1207 aa            linear   PRI 26-MAR-2023
DEFINITION  pro-epidermal growth factor isoform 1 preproprotein [Homo sapiens].
ACCESSION   NP_001954
VERSION     NP_001954.2
DBSOURCE    REFSEQ: accession NM_001963.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1207)
  AUTHORS   Koeda M, Momma E, Tanabe T, Kitasako Y, Hoshikawa Y, Hoshino S,
            Kawami N and Iwakiri K.
  TITLE     Differences in salivary secretion and epidermal growth factor
            concentrations in mild reflux esophagitis and non-erosive reflux
            disease
  JOURNAL   Esophagus 20 (2), 317-324 (2023)
   PUBMED   36344779
  REMARK    GeneRIF: Differences in salivary secretion and epidermal growth
            factor concentrations in mild reflux esophagitis and non-erosive
            reflux disease.
REFERENCE   2  (residues 1 to 1207)
  AUTHORS   Li X, Xu M, Bi R, Tan LW, Yao YG and Zhang DF.
  TITLE     Common and rare variants of EGF increase the genetic risk of
            Alzheimer's disease as revealed by targeted sequencing of growth
            factors in Han Chinese
  JOURNAL   Neurobiol Aging 123, 170-181 (2023)
   PUBMED   36437134
  REMARK    GeneRIF: Common and rare variants of EGF increase the genetic risk
            of Alzheimer's disease as revealed by targeted sequencing of growth
            factors in Han Chinese.
REFERENCE   3  (residues 1 to 1207)
  AUTHORS   Ge X, Li M, Song GX, Zhang Z, Yin J, Ge Z, Shi Z, Liu LZ, Jiang BH,
            Qian X and Shen H.
  TITLE     Chromium (VI)-induced ALDH1A1/EGF axis promotes lung cancer
            progression
  JOURNAL   Clin Transl Med 12 (12), e1136 (2022)
   PUBMED   36504325
  REMARK    GeneRIF: Chromium (VI)-induced ALDH1A1/EGF axis promotes lung
            cancer progression.
REFERENCE   4  (residues 1 to 1207)
  AUTHORS   Hommel U, Harvey TS, Driscoll PC and Campbell ID.
  TITLE     Human epidermal growth factor. High resolution solution structure
            and comparison with human transforming growth factor alpha
  JOURNAL   J Mol Biol 227 (1), 271-282 (1992)
   PUBMED   1522591
REFERENCE   5  (residues 1 to 1207)
  AUTHORS   Hernandez-Sotomayor SM and Carpenter G.
  TITLE     Epidermal growth factor receptor: elements of intracellular
            communication
  JOURNAL   J Membr Biol 128 (2), 81-89 (1992)
   PUBMED   1501243
  REMARK    Review article
REFERENCE   6  (residues 1 to 1207)
  AUTHORS   Bell,G.I., Fong,N.M., Stempien,M.M., Wormsted,M.A., Caput,D.,
            Ku,L.L., Urdea,M.S., Rall,L.B. and Sanchez-Pescador,R.
  TITLE     Human epidermal growth factor precursor: cDNA sequence, expression
            in vitro and gene organization
  JOURNAL   Nucleic Acids Res 14 (21), 8427-8446 (1986)
   PUBMED   3491360
REFERENCE   7  (residues 1 to 1207)
  AUTHORS   Morton,C.C., Byers,M.G., Nakai,H., Bell,G.I. and Shows,T.B.
  TITLE     Human genes for insulin-like growth factors I and II and epidermal
            growth factor are located on 12q22----q24.1, 11p15, and
            4q25----q27, respectively
  JOURNAL   Cytogenet Cell Genet 41 (4), 245-249 (1986)
   PUBMED   3486749
REFERENCE   8  (residues 1 to 1207)
  AUTHORS   Brissenden,J.E., Ullrich,A. and Francke,U.
  TITLE     Human chromosomal mapping of genes for insulin-like growth factors
            I and II and epidermal growth factor
  JOURNAL   Nature 310 (5980), 781-784 (1984)
   PUBMED   6382023
REFERENCE   9  (residues 1 to 1207)
  AUTHORS   Smith,J., Cook,E., Fotheringham,I., Pheby,S., Derbyshire,R.,
            Eaton,M.A., Doel,M., Lilley,D.M., Pardon,J.F., Patel,T., Lewis,H.
            and Bell,L.D.
  TITLE     Chemical synthesis and cloning of a gene for human beta-urogastrone
  JOURNAL   Nucleic Acids Res 10 (15), 4467-4482 (1982)
   PUBMED   6290982
REFERENCE   10 (residues 1 to 1207)
  AUTHORS   Gregory,H. and Preston,B.M.
  TITLE     The primary structure of human urogastrone
  JOURNAL   Int J Pept Protein Res 9 (2), 107-118 (1977)
   PUBMED   300079
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005509.1, BC093731.1,
            AC004050.1, AK299306.1 and CA437074.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 31, 2008 this sequence version replaced NP_001954.1.
            
            Summary: This gene encodes a member of the epidermal growth factor
            superfamily. The encoded preproprotein is proteolytically processed
            to generate the 53-amino acid epidermal growth factor peptide. This
            protein acts a potent mitogenic factor that plays an important role
            in the growth, proliferation and differentiation of numerous cell
            types. This protein acts by binding with high affinity to the cell
            surface receptor, epidermal growth factor receptor. Defects in this
            gene are the cause of hypomagnesemia type 4. Dysregulation of this
            gene has been associated with the growth and progression of certain
            cancers. Alternative splicing results in multiple transcript
            variants, at least one of which encodes a preproprotein that is
            proteolytically processed. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X04571.1, BC093731.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265171.10/ ENSP00000265171.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1207
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     Protein         1..1207
                     /product="pro-epidermal growth factor isoform 1
                     preproprotein"
                     /note="beta-urogastrone; pro-epidermal growth factor"
                     /calculated_mol_wt=132460
     sig_peptide     1..14
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1553
     mat_peptide     23..1207
                     /product="Pro-epidermal growth factor. /id=PRO_0000007540"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
                     /calculated_mol_wt=131621
     Site            38
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P01133.2)"
     Region          70..106
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          86..127
                     /region_name="LDL-receptor class B 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
     Site            104
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P01133.2)"
     Site            117
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P01133.2)"
     Region          128..169
                     /region_name="LDL-receptor class B 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
     Site            148
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P01133.2)"
     Region          152..189
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          170..211
                     /region_name="LDL-receptor class B 3"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
     Region          180..>268
                     /region_name="DUF5050"
                     /note="Domain of unknown function (DUF5050); pfam16472"
                     /db_xref="CDD:435359"
     Region          212..258
                     /region_name="LDL-receptor class B 4"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
     Site            324
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P01133.2)"
     Region          336..359
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          356..395
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            404
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P01133.2)"
     Region          408..436
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          439..476
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          483..523
                     /region_name="LDL-receptor class B 5"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
     Region          505..546
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          524..566
                     /region_name="LDL-receptor class B 6"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
     Region          547..587
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          567..609
                     /region_name="LDL-receptor class B 7"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
     Region          590..633
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Site            596
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P01133.2)"
     Region          610..653
                     /region_name="LDL-receptor class B 8"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
     Region          635..676
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          654..696
                     /region_name="LDL-receptor class B 9"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
     Region          677..718
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          745..780
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          801..807
                     /region_name="O-glycosylated at one site"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
     Site            815
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P01133.2)"
     Region          835..864
                     /region_name="EGF"
                     /note="EGF-like domain; pfam00008"
                     /db_xref="CDD:394967"
     Region          870..910
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(870,873,890)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          912..940
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(912,915,931)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Site            926
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P01133.2)"
     mat_peptide     971..1023
                     /product="Epidermal growth factor. /id=PRO_0000007541"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
                     /calculated_mol_wt=6222
     Region          <976..>1014
                     /region_name="PHA03099"
                     /note="epidermal growth factor-like protein (EGF-like
                     protein); Provisional"
                     /db_xref="CDD:165381"
     Site            1033..1053
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
     Region          1067..1093
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
     Region          1108..1131
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
     Region          1177..1207
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P01133.2)"
     CDS             1..1207
                     /gene="EGF"
                     /gene_synonym="HOMG4; URG"
                     /coded_by="NM_001963.6:454..4077"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS3689.1"
                     /db_xref="GeneID:1950"
                     /db_xref="HGNC:HGNC:3229"
                     /db_xref="MIM:131530"
ORIGIN      
        1 mlltliillp vvskfsfvsl sapqhwscpe gtlagngnst cvgpapflif shgnsifrid
       61 tegtnyeqlv vdagvsvimd fhynekriyw vdlerqllqr vflngsrqer vcnieknvsg
      121 mainwineev iwsnqqegii tvtdmkgnns hillsalkyp anvavdpver fifwssevag
      181 slyradldgv gvkalletse kitavsldvl dkrlfwiqyn regsnslics cdydggsvhi
      241 skhptqhnlf amslfgdrif ystwkmktiw iankhtgkdm vrinlhssfv plgelkvvhp
      301 laqpkaeddt wepeqklckl rkgncsstvc gqdlqshlcm caegyalsrd rkycedvnec
      361 afwnhgctlg ckntpgsyyc tcpvgfvllp dgkrchqlvs cprnvsecsh dcvltsegpl
      421 cfcpegsvle rdgktcsgcs spdnggcsql cvplspvswe cdcfpgydlq ldekscaasg
      481 pqpfllfans qdirhmhfdg tdygtllsqq mgmvyaldhd pvenkiyfah talkwieran
      541 mdgsqrerli eegvdvpegl avdwigrrfy wtdrgkslig rsdlngkrsk iitkenisqp
      601 rgiavhpmak rlfwtdtgin priessslqg lgrlviassd liwpsgitid fltdklywcd
      661 akqsvieman ldgskrrrlt qndvghpfav avfedyvwfs dwampsvmrv nkrtgkdrvr
      721 lqgsmlkpss lvvvhplakp gadpclyqng gcehickkrl gtawcscreg fmkasdgktc
      781 laldghqlla ggevdlknqv tpldilsktr vsednitesq hmlvaeimvs dqddcapvgc
      841 smyarciseg edatcqclkg fagdgklcsd idecemgvpv cppasskcin teggyvcrcs
      901 egyqgdgihc ldidecqlge hscgenasct nteggytcmc agrlsepgli cpdstppphl
      961 reddhhysvr nsdsecplsh dgyclhdgvc myiealdkya cncvvgyige rcqyrdlkww
     1021 elrhaghgqq qkvivvavcv vvlvmlllls lwgahyyrtq kllsknpknp yeessrdvrs
     1081 rrpadtedgm sscpqpwfvv ikehqdlkng gqpvagedgq aadgsmqpts wrqepqlcgm
     1141 gteqgcwipv ssdkgscpqv mersfhmpsy gtqtleggve kphsllsanp lwqqraldpp
     1201 hqmeltq
//
LOCUS       NP_001274275             332 aa            linear   PRI 02-APR-2023
DEFINITION  protein GPR107 isoform 4 [Homo sapiens].
ACCESSION   NP_001274275
VERSION     NP_001274275.1
DBSOURCE    REFSEQ: accession NM_001287346.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 332)
  AUTHORS   Hoel CM, Zhang L and Brohawn SG.
  TITLE     Structure of the GOLD-domain seven-transmembrane helix protein
            family member TMEM87A
  JOURNAL   Elife 11, e81704 (2022)
   PUBMED   36373655
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 332)
  AUTHORS   Calderon-Zamora L, Canizalez-Roman A, Leon-Sicairos N,
            Aguilera-Mendez A, Huang F, Hong E and Villafana S.
  TITLE     Changes in expression of orphan receptors GPR99 and GPR107 during
            the development and establishment of hypertension in spontaneously
            hypertensive rats
  JOURNAL   J Recept Signal Transduct Res 41 (6), 558-565 (2021)
   PUBMED   33121311
  REMARK    GeneRIF: Changes in expression of orphan receptors GPR99 and GPR107
            during the development and establishment of hypertension in
            spontaneously hypertensive rats.
REFERENCE   3  (residues 1 to 332)
  AUTHORS   Tafesse FG, Guimaraes CP, Maruyama T, Carette JE, Lory S,
            Brummelkamp TR and Ploegh HL.
  TITLE     GPR107, a G-protein-coupled receptor essential for intoxication by
            Pseudomonas aeruginosa exotoxin A, localizes to the Golgi and is
            cleaved by furin
  JOURNAL   J Biol Chem 289 (35), 24005-24018 (2014)
   PUBMED   25031321
  REMARK    GeneRIF: The N-terminal region of GPR107 is critical for its
            biological function. GPR107 might be one of the long-sought
            receptors that associates with G-proteins to regulate intracellular
            vesicular transport
REFERENCE   4  (residues 1 to 332)
  AUTHORS   Yosten GL, Redlinger LJ and Samson WK.
  TITLE     Evidence for an interaction of neuronostatin with the orphan G
            protein-coupled receptor, GPR107
  JOURNAL   Am J Physiol Regul Integr Comp Physiol 303 (9), R941-R949 (2012)
   PUBMED   22933024
  REMARK    GeneRIF: GPR107 is a promising candidate receptor for
            neuronostatin, and neuronostatin, interacting with GPR107, may play
            an important role in the central control of cardiovascular
            function.
REFERENCE   5  (residues 1 to 332)
  AUTHORS   Edgar AJ.
  TITLE     Human GPR107 and murine Gpr108 are members of the LUSTR family of
            proteins found in both plants and animals, having similar topology
            to G-protein coupled receptors
  JOURNAL   DNA Seq 18 (3), 235-241 (2007)
   PUBMED   17454009
  REMARK    GeneRIF: The 18-exon human GPR107 gene is located at 9q34.2-3 and
            spans 86.4 kb and the cDNA encodes a 552 residue protein; murine
            Gpr108 cDNA encodes a 562 residue protein that has 49% identity to
            human GPR107.
REFERENCE   6  (residues 1 to 332)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC039728.1, BC030147.2 and AL392105.13.
            
            Transcript Variant: This variant (4) contains multiple coding
            region differences and initiates translation at a downstream start
            codon, compared to variant 1. It encodes isoform 4, which is
            shorter and has a distinct C-terminus, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC030147.2, SRR18074968.666921.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..332
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     Protein         1..332
                     /product="protein GPR107 isoform 4"
                     /note="protein GPR107; lung seven transmembrane receptor
                     1"
                     /calculated_mol_wt=38107
     Region          27..316
                     /region_name="Lung_7-TM_R"
                     /note="Lung seven transmembrane receptor; pfam06814"
                     /db_xref="CDD:369089"
     CDS             1..332
                     /gene="GPR107"
                     /gene_synonym="bA138E2.2; GCDRP; LUSTR1"
                     /coded_by="NM_001287346.2:591..1589"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:57720"
                     /db_xref="HGNC:HGNC:17830"
                     /db_xref="MIM:618490"
ORIGIN      
        1 mgeksfsvhn nggavsfqff fnistddqeg lyslyfhkcl gkelpsdkft fsldieitek
       61 npdsylsage iplpklyism afffflsgti wihilrkrrn dvfkihwlma alpftkslsl
      121 vfhaidyhyi ssqgfpiegw avvyyithll kgallfitia ligtgwafik hilsdkdkki
      181 fmiviplqvl anvayiiies teegtteygl wkdslflvdl lccgailfpv vwsirhlqea
      241 satdgkaain laklklfrhy yvlivcyiyf triiafllkl avpfqwkwly qlldetatlv
      301 ffvltgykfr pasdnpylql sqeeedleme sv
//
LOCUS       NP_001354912             511 aa            linear   PRI 03-APR-2023
DEFINITION  scavenger receptor class B member 1 isoform 5 [Homo sapiens].
ACCESSION   NP_001354912
VERSION     NP_001354912.1
DBSOURCE    REFSEQ: accession NM_001367983.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 511)
  AUTHORS   Li B, George EW, Vachali P, Chang FY, Gorusupudi A, Arunkumar R,
            Giauque NA, Wan Z, Frederick JM and Bernstein PS.
  TITLE     Mechanism for the selective uptake of macular carotenoids mediated
            by the HDL cholesterol receptor SR-BI
  JOURNAL   Exp Eye Res 229, 109429 (2023)
   PUBMED   36863431
  REMARK    GeneRIF: Mechanism for the selective uptake of macular carotenoids
            mediated by the HDL cholesterol receptor SR-BI.
REFERENCE   2  (residues 1 to 511)
  AUTHORS   Kunceviciene E, Mockute R, Petrauskaite A, Budiene B, Smalinskiene
            A, Zvykaite I and Liutkeviciene R.
  TITLE     Twins' Macular Pigment Optical Density Assessment and Relation with
            SCARB1 Gene Polymorphism
  JOURNAL   Genes (Basel) 14 (1), 125 (2023)
   PUBMED   36672866
  REMARK    GeneRIF: Twins' Macular Pigment Optical Density Assessment and
            Relation with SCARB1 Gene Polymorphism.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 511)
  AUTHORS   Arandhara VL, McClure CP, Tarr AW, Chappell S, Morgan K, Baumert
            TF, Irving WL and Ball JK.
  TITLE     Scavenger receptor class B type I genetic variants associated with
            disease severity in chronic hepatitis C virus infection
  JOURNAL   J Med Virol 95 (1), e28331 (2023)
   PUBMED   36415047
  REMARK    GeneRIF: Scavenger receptor class B type I genetic variants
            associated with disease severity in chronic hepatitis C virus
            infection.
REFERENCE   4  (residues 1 to 511)
  AUTHORS   Wamique M, Himanshu D and Ali W.
  TITLE     Expression Levels and Genetic Polymorphism of Scavenger Receptor
            Class B Type 1 as a Biomarker of Type 2 Diabetes Mellitus
  JOURNAL   Sultan Qaboos Univ Med J 22 (1), 117-122 (2022)
   PUBMED   35299814
  REMARK    GeneRIF: Expression Levels and Genetic Polymorphism of Scavenger
            Receptor Class B Type 1 as a Biomarker of Type 2 Diabetes Mellitus.
REFERENCE   5  (residues 1 to 511)
  AUTHORS   Caykara B, Tokat B, Coskunpinar E, Kucukhuseyin O, Kanca Demirci D,
            Bugra Z, Ozkara G, Ozturk O, Pence S and Yilmaz Aydogan H.
  TITLE     Investigation of Scavenger Receptor Class B Type I gene variants in
            patients with coronary heart disease with a history of early
            myocardial infarction
  JOURNAL   Turk Kardiyol Dern Ars 49 (8), 641-653 (2021)
   PUBMED   34881703
  REMARK    GeneRIF: Investigation of Scavenger Receptor Class B Type I gene
            variants in patients with coronary heart disease with a history of
            early myocardial infarction.
REFERENCE   6  (residues 1 to 511)
  AUTHORS   Murao K, Terpstra V, Green SR, Kondratenko N, Steinberg D and
            Quehenberger O.
  TITLE     Characterization of CLA-1, a human homologue of rodent scavenger
            receptor BI, as a receptor for high density lipoprotein and
            apoptotic thymocytes
  JOURNAL   J Biol Chem 272 (28), 17551-17557 (1997)
   PUBMED   9211901
REFERENCE   7  (residues 1 to 511)
  AUTHORS   Calvo D, Dopazo J and Vega MA.
  TITLE     The CD36, CLA-1 (CD36L1), and LIMPII (CD36L2) gene family: cellular
            distribution, chromosomal location, and genetic evolution
  JOURNAL   Genomics 25 (1), 100-106 (1995)
   PUBMED   7539776
REFERENCE   8  (residues 1 to 511)
  AUTHORS   Calvo D and Vega MA.
  TITLE     Identification, primary structure, and distribution of CLA-1, a
            novel member of the CD36/LIMPII gene family
  JOURNAL   J Biol Chem 268 (25), 18929-18935 (1993)
   PUBMED   7689561
REFERENCE   9  (residues 1 to 511)
  AUTHORS   Phillips,R.W.
  TITLE     The new era in restorative dental materials
  JOURNAL   Oper Dent 1 (1), 29-35 (1976)
   PUBMED   1076467
  REMARK    Review article
REFERENCE   10 (residues 1 to 511)
  AUTHORS   Skre,H. and Berg,K.
  TITLE     Cerebellar ataxia and total albinism: a kindred suggesting
            pleitotropism or linkage
  JOURNAL   Clin Genet 5 (3), 196-204 (1974)
   PUBMED   4838888
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC126309.8 and AC073593.13.
            
            Summary: The protein encoded by this gene is a plasma membrane
            receptor for high density lipoprotein cholesterol (HDL). The
            encoded protein mediates cholesterol transfer to and from HDL. In
            addition, this protein is a receptor for hepatitis C virus
            glycoprotein E2 and facilitates cell entry by the virus, SARS-CoV2.
            [provided by RefSeq, Oct 2021].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.24392.1,
                                           DRR138522.567778.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in SARS-CoV-2 infection
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..511
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     Protein         1..511
                     /product="scavenger receptor class B member 1 isoform 5"
                     /note="CD36 antigen (collagen type I receptor,
                     thrombospondin receptor)-like 1; scavenger receptor class
                     B type III; CD36 and LIMPII analogous 1"
                     /calculated_mol_wt=57098
     Site            12..32
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WTV0.1)"
     Region          16..448
                     /region_name="CD36"
                     /note="CD36 family; pfam01130"
                     /db_xref="CDD:426068"
     Site            102
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q8WTV0.1)"
     Site            108
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WTV0.1)"
     Site            173
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WTV0.1)"
     Site            212
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WTV0.1)"
     Site            227
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WTV0.1)"
     Site            255
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WTV0.1)"
     Site            310
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WTV0.1)"
     Site            330
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q8WTV0.1)"
     Site            383
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WTV0.1)"
     Site            393
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8WTV0.1)"
     Site            446..466
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WTV0.1)"
     Site            460
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8WTV0.1)"
     CDS             1..511
                     /gene="SCARB1"
                     /gene_synonym="CD36L1; CLA-1; CLA1; HDLCQ6; HDLQTL6;
                     SR-BI; SRB1"
                     /coded_by="NM_001367983.1:145..1680"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:949"
                     /db_xref="HGNC:HGNC:1664"
                     /db_xref="MIM:601040"
ORIGIN      
        1 mgcsakarwa agalgvagll cavlgavmiv mvpslikqqv lknvridpss lsfnmwkeip
       61 ipfylsvyff dvmnpseilk gekpqvrerg pyvyrefrhk snitfnnndt vsfleyrtfq
      121 fqpskshgse sdyivmpnil vlgaavmmen kpmtlklimt lafttlgera fmnrtvgeim
      181 wgykdplvnl inkyfpgmfp fkdkfglfae lnnsdsglft vftgvqnisr ihlvdkwngl
      241 skvdfwhsdq cnmingtsgq mwppfmtpes slefyspeac rsmklmykes gvfegiptyr
      301 fvapktlfan gsiyppnegf cpclesgiqn vstcrfsapl flshphflna dpvlaeavtg
      361 lhpnqeahsl fldihpvtgi pmncsvklql slymksvagi gqtgkiepvv lpllwfaevr
      421 sgamegetlh tfytqlvlmp kvmhyaqyvl lalgcvlllv pvicqirsqe kcylfwsssk
      481 kgskdkeaiq ayseslmtsa pkgsvlqeak l
//
LOCUS       NP_001273137             286 aa            linear   PRI 05-APR-2023
DEFINITION  dynein regulatory complex subunit 4 isoform c [Homo sapiens].
ACCESSION   NP_001273137 XP_005256365
VERSION     NP_001273137.1
DBSOURCE    REFSEQ: accession NM_001286208.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 286)
  AUTHORS   Zhang J, He X, Wu H, Zhang X, Yang S, Liu C, Liu S, Hua R, Zhou S,
            Zhao S, Hu F, Zhang J, Liu W, Cheng H, Gao Y, Zhang F, Cao Y and
            Liu M.
  TITLE     Loss of DRC1 function leads to multiple morphological abnormalities
            of the sperm flagella and male infertility in human and mouse
  JOURNAL   Hum Mol Genet 30 (21), 1996-2011 (2021)
   PUBMED   34169321
REFERENCE   2  (residues 1 to 286)
  AUTHORS   Wu X, Jiang T, Huang R and Xiao X.
  TITLE     LncRNA GAS8-AS1 downregulates lncRNA NEAT1 to inhibit glioblastoma
            cell proliferation
  JOURNAL   Brain Behav 11 (6), e02128 (2021)
   PUBMED   33942556
  REMARK    GeneRIF: LncRNA GAS8-AS1 downregulates lncRNA NEAT1 to inhibit
            glioblastoma cell proliferation.
REFERENCE   3  (residues 1 to 286)
  AUTHORS   Dashti S, Taherian-Esfahani Z, Kholghi-Oskooei V, Ghafouri-Fard S
            and Taheri M.
  TITLE     Expression analysis of growth arrest specific 8 and its anti-sense
            in breast cancer tissues
  JOURNAL   Exp Mol Pathol 114, 104414 (2020)
   PUBMED   32165089
  REMARK    GeneRIF: Expression analysis of growth arrest specific 8 and its
            anti-sense in breast cancer tissues.
REFERENCE   4  (residues 1 to 286)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 286)
  AUTHORS   Patoughi M, Ghafouri-Fard S, Arsang-Jang S and Taheri M.
  TITLE     GAS8 and its naturally occurring antisense RNA as biomarkers in
            multiple sclerosis
  JOURNAL   Immunobiology 224 (4), 560-564 (2019)
   PUBMED   31003831
  REMARK    GeneRIF: The current study shows significance of GAS8 and GAS8-AS1
            in the pathogenesis of MS and the putative role of GAS8-AS1 as a
            diagnostic biomarker in a subset of patients.
REFERENCE   6  (residues 1 to 286)
  AUTHORS   Ralston KS and Hill KL.
  TITLE     Trypanin, a component of the flagellar Dynein regulatory complex,
            is essential in bloodstream form African trypanosomes
  JOURNAL   PLoS Pathog 2 (9), e101 (2006)
   PUBMED   17009870
REFERENCE   7  (residues 1 to 286)
  AUTHORS   Colantonio JR, Bekker JM, Kim SJ, Morrissey KM, Crosbie RH and Hill
            KL.
  TITLE     Expanding the role of the dynein regulatory complex to non-axonemal
            functions: association of GAS11 with the Golgi apparatus
  JOURNAL   Traffic 7 (5), 538-548 (2006)
   PUBMED   16643277
REFERENCE   8  (residues 1 to 286)
  AUTHORS   Yeh SD, Chen YJ, Chang AC, Ray R, She BR, Lee WS, Chiang HS, Cohen
            SN and Lin-Chao S.
  TITLE     Isolation and properties of Gas8, a growth arrest-specific gene
            regulated during male gametogenesis to produce a protein associated
            with the sperm motility apparatus
  JOURNAL   J Biol Chem 277 (8), 6311-6317 (2002)
   PUBMED   11751847
REFERENCE   9  (residues 1 to 286)
  AUTHORS   Hill KL, Hutchings NR, Grandgenett PM and Donelson JE.
  TITLE     T lymphocyte-triggering factor of african trypanosomes is
            associated with the flagellar fraction of the cytoskeleton and
            represents a new family of proteins that are present in several
            divergent eukaryotes
  JOURNAL   J Biol Chem 275 (50), 39369-39378 (2000)
   PUBMED   10969087
REFERENCE   10 (residues 1 to 286)
  AUTHORS   Whitmore SA, Settasatian C, Crawford J, Lower KM, McCallum B,
            Seshadri R, Cornelisse CJ, Moerland EW, Cleton-Jansen AM, Tipping
            AJ, Mathew CG, Savnio M, Savoia A, Verlander P, Auerbach AD, Van
            Berkel C, Pronk JC, Doggett NA and Callen DF.
  TITLE     Characterization and screening for mutations of the growth
            arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast
            cancer
  JOURNAL   Genomics 52 (3), 325-331 (1998)
   PUBMED   9790751
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC104785.1, BX647947.1,
            AC133919.3 and AF050079.1.
            On Oct 31, 2013 this sequence version replaced XP_005256365.1.
            
            Summary: This gene includes 11 exons spanning 25 kb and maps to a
            region of chromosome 16 that is sometimes deleted in breast and
            prostrate cancer. The second intron contains an apparently
            intronless gene, C16orf3, that is transcribed in the opposite
            orientation. This gene is a putative tumor suppressor gene. Several
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Oct 2013].
            
            Transcript Variant: This variant (4) uses an alternate splice site
            at the 5' end of an exon and lacks an alternate internal exon
            compared to variant 1. The resulting isoform (c) is shorter at the
            N-terminus compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX647947.1, SRR14038191.894276.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..286
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     Protein         1..286
                     /product="dynein regulatory complex subunit 4 isoform c"
                     /note="growth arrest-specific protein 8; GAS-11; growth
                     arrest-specific protein 11; dynein regulatory complex
                     subunit 4; epididymis secretory sperm binding protein"
                     /calculated_mol_wt=33027
     Region          29..228
                     /region_name="GAS"
                     /note="Growth-arrest specific micro-tubule binding;
                     pfam13851"
                     /db_xref="CDD:433526"
     CDS             1..286
                     /gene="GAS8"
                     /gene_synonym="CILD33; DRC4; GAS11"
                     /coded_by="NM_001286208.2:687..1547"
                     /note="isoform c is encoded by transcript variant 4"
                     /db_xref="GeneID:2622"
                     /db_xref="HGNC:HGNC:4166"
                     /db_xref="MIM:605178"
ORIGIN      
        1 mkmlrdeldl rrktelheve erkngqihtl mqrheeaftd iknyynditl nnlalinslk
       61 eqmedmrkke dhleremaev sgqnkrladp lqkareemse mqkqlanyer dkqillctka
      121 rlkvrekelk dlqwehevle qrftkvqqer delyrkftaa iqevqqktgf knlvlerklq
      181 alsaavekke vqfnevlaas nldpaaltlv srkledvles knstikdlqy elaqvckahn
      241 dllrtyeakl lafgipldnv gfkpletavi gqtlgqgpag lvgtpt
//
LOCUS       NP_001387588             464 aa            linear   PRI 10-APR-2023
DEFINITION  caspase-8 isoform 3 [Homo sapiens].
ACCESSION   NP_001387588
VERSION     NP_001387588.1
DBSOURCE    REFSEQ: accession NM_001400659.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 464)
  AUTHORS   Afzaljavan F, Vahednia E, Barati Bagherabad M, Vakili F, Moezzi A,
            Hosseini A, Homaei Shandiz F, Kooshyar MM, Nassiri M and Pasdar A.
  TITLE     Genetic contribution of caspase-8 variants and haplotypes to breast
            cancer risk and prognosis: a case-control study in Iran
  JOURNAL   BMC Med Genomics 16 (1), 72 (2023)
   PUBMED   37016353
  REMARK    GeneRIF: Genetic contribution of caspase-8 variants and haplotypes
            to breast cancer risk and prognosis: a case-control study in Iran.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 464)
  AUTHORS   Acat M, Yildiz Gulhan P, Eroz R, Ertinmaz Ozkan A, Koca O and Cinar
            C.
  TITLE     Evaluation of both expression and serum protein levels of caspase-8
            and mitogen-activated protein kinase 1 genes in patients with
            different severities of COVID-19 infection
  JOURNAL   Mol Biol Rep 50 (4), 3241-3248 (2023)
   PUBMED   36708447
  REMARK    GeneRIF: Evaluation of both expression and serum protein levels of
            caspase-8 and mitogen-activated protein kinase 1 genes in patients
            with different severities of COVID-19 infection.
REFERENCE   3  (residues 1 to 464)
  AUTHORS   Belousova V, Svitich O, Timokhina E, Ignatko I, Bogomazova I,
            Pesegova S, Silaeva T, Kuzmina T and Skorobogatova O.
  TITLE     Caspase-3, Caspase-8 and XIAP Gene Expression in the Placenta:
            Exploring the Causes of Spontaneous Preterm Labour
  JOURNAL   Int J Mol Sci 24 (2), 1692 (2023)
   PUBMED   36675207
  REMARK    GeneRIF: Caspase-3, Caspase-8 and XIAP Gene Expression in the
            Placenta: Exploring the Causes of Spontaneous Preterm Labour.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 464)
  AUTHORS   Li T, Liu N, Zhang G and Chen M.
  TITLE     CASP4 and CASP8 as newly defined autophagy-pyroptosis-related genes
            associated with clinical and prognostic features of renal cell
            carcinoma
  JOURNAL   J Cancer Res Ther 18 (7), 1952-1960 (2022)
   PUBMED   36647955
  REMARK    GeneRIF: CASP4 and CASP8 as newly defined
            autophagy-pyroptosis-related genes associated with clinical and
            prognostic features of renal cell carcinoma.
REFERENCE   5  (residues 1 to 464)
  AUTHORS   Calvo SE, Pagliarini DJ and Mootha VK.
  TITLE     Upstream open reading frames cause widespread reduction of protein
            expression and are polymorphic among humans
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7507-7512 (2009)
   PUBMED   19372376
  REMARK    GeneRIF: Includes the study of a polymorphic upstream ORF in this
            gene, and shows that it functions to reduce protein levels by ~31%
REFERENCE   6  (residues 1 to 464)
  AUTHORS   Breckenridge DG, Nguyen M, Kuppig S, Reth M and Shore GC.
  TITLE     The procaspase-8 isoform, procaspase-8L, recruited to the BAP31
            complex at the endoplasmic reticulum
  JOURNAL   Proc Natl Acad Sci U S A 99 (7), 4331-4336 (2002)
   PUBMED   11917123
REFERENCE   7  (residues 1 to 464)
  AUTHORS   Fernandes-Alnemri T, Takahashi A, Armstrong R, Krebs J, Fritz L,
            Tomaselli KJ, Wang L, Yu Z, Croce CM, Salveson G et al.
  TITLE     Mch3, a novel human apoptotic cysteine protease highly related to
            CPP32
  JOURNAL   Cancer Res 55 (24), 6045-6052 (1995)
   PUBMED   8521391
REFERENCE   8  (residues 1 to 464)
  AUTHORS   Fernandes-Alnemri T, Litwack G and Alnemri ES.
  TITLE     CPP32, a novel human apoptotic protein with homology to
            Caenorhabditis elegans cell death protein Ced-3 and mammalian
            interleukin-1 beta-converting enzyme
  JOURNAL   J Biol Chem 269 (49), 30761-30764 (1994)
   PUBMED   7983002
REFERENCE   9  (residues 1 to 464)
  AUTHORS   DuBridge,R.B., Tang,P., Hsia,H.C., Leong,P.M., Miller,J.H. and
            Calos,M.P.
  TITLE     Analysis of mutation in human cells by using an Epstein-Barr virus
            shuttle system
  JOURNAL   Mol Cell Biol 7 (1), 379-387 (1987)
   PUBMED   3031469
REFERENCE   10 (residues 1 to 464)
  AUTHORS   Clements,G.B., Klein,G. and Povey,S.
  TITLE     Production by EBV infection of an EBNA-positive subline from an
            EBNA-negative human lymphoma cell line without detectable EBV DNA
  JOURNAL   Int J Cancer 16 (1), 125-133 (1975)
   PUBMED   170210
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007256.5.
            
            Summary: This gene encodes a member of the cysteine-aspartic acid
            protease (caspase) family. Sequential activation of caspases plays
            a central role in the execution-phase of cell apoptosis. Caspases
            exist as inactive proenzymes composed of a prodomain, a large
            protease subunit, and a small protease subunit. Activation of
            caspases requires proteolytic processing at conserved internal
            aspartic residues to generate a heterodimeric enzyme consisting of
            the large and small subunits. This protein is involved in the
            programmed cell death induced by Fas and various apoptotic stimuli.
            The N-terminal FADD-like death effector domain of this protein
            suggests that it may interact with Fas-interacting protein FADD.
            This protein was detected in the insoluble fraction of the affected
            brain region from Huntington disease patients but not in those from
            normal controls, which implicated the role in neurodegenerative
            diseases. Many alternatively spliced transcript variants encoding
            different isoforms have been described, although not all variants
            have had their full-length sequences determined. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.195964.1,
                                           SRR14038191.3162272.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..464
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     Protein         1..464
                     /product="caspase-8 isoform 3"
                     /EC_number="3.4.22.61"
                     /note="caspase 8, apoptosis-related cysteine protease;
                     FADD-homologous ICE/CED-3-like protease; MACH-alpha-1/2/3
                     protein; MACH-beta-1/2/3/4 protein; FADD-like ICE;
                     apoptotic protease Mch-5; apoptotic cysteine protease;
                     caspase 8, apoptosis-related cysteine peptidase; ICE-like
                     apoptotic protease 5; MORT1-associated ced-3 homolog"
                     /calculated_mol_wt=53638
     Region          3..84
                     /region_name="DED_Caspase_8_r1"
                     /note="Death effector domain, repeat 1, of Caspase-8;
                     cd08333"
                     /db_xref="CDD:260041"
     Site            order(16..17,21,24..25,27..28,64,68)
                     /site_type="other"
                     /note="putative DED1/DED2 interface [polypeptide binding]"
                     /db_xref="CDD:260041"
     Region          98..180
                     /region_name="DD"
                     /note="Death Domain Superfamily of protein-protein
                     interaction domains; cl14633"
                     /db_xref="CDD:449339"
     Region          210..462
                     /region_name="CASc"
                     /note="Caspase, interleukin-1 beta converting enzyme (ICE)
                     homologues; Cysteine-dependent aspartate-directed
                     proteases that mediate programmed cell death (apoptosis).
                     Caspases are synthesized as inactive zymogens and
                     activated by proteolysis of the peptide...; cd00032"
                     /db_xref="CDD:237997"
     Site            order(245,303,343,350,395..400,404..405)
                     /site_type="other"
                     /note="substrate pocket [chemical binding]"
                     /db_xref="CDD:237997"
     Site            order(302,345)
                     /site_type="active"
                     /db_xref="CDD:237997"
     Site            order(351,380..381,388,391,394,417,426,432,446,451..452,
                     454,457..458)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:237997"
     Site            order(352,379)
                     /site_type="active"
                     /note="proteolytic cleavage site [active]"
                     /db_xref="CDD:237997"
     CDS             1..464
                     /gene="CASP8"
                     /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
                     /coded_by="NM_001400659.1:79..1473"
                     /note="isoform 3 is encoded by transcript variant 20"
                     /db_xref="CCDS:CCDS2343.1"
                     /db_xref="GeneID:841"
                     /db_xref="HGNC:HGNC:1509"
                     /db_xref="MIM:601763"
ORIGIN      
        1 mdfsrnlydi geqldsedla slkflsldyi pqrkqepikd almlfqrlqe krmleesnls
       61 flkellfrin rldllityln trkeemerel qtpgraqisa yrvmlyqise evsrselrsf
      121 kfllqeeisk ckldddmnll difiemekrv ilgegkldil krvcaqinks llkiindyee
      181 fskgeelcgv mtisdspreq dsesqtldkv yqmkskprgy cliinnhnfa karekvpklh
      241 sirdrngthl dagaltttfe elhfeikphd dctveqiyei lkiyqlmdhs nmdcficcil
      301 shgdkgiiyg tdgqeapiye ltsqftglkc pslagkpkvf fiqacqgdny qkgipvetds
      361 eeqpylemdl sspqtryipd eadfllgmat vnncvsyrnp aegtwyiqsl cqslrercpr
      421 gddiltilte vnyevsnkdd kknmgkqmpq ptftlrkklv fpsd
//
LOCUS       NP_065391                252 aa            linear   PRI 17-APR-2023
DEFINITION  oncostatin-M isoform 1 preproprotein [Homo sapiens].
ACCESSION   NP_065391
VERSION     NP_065391.1
DBSOURCE    REFSEQ: accession NM_020530.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 252)
  AUTHORS   Carsuzaa F, Bequignon E, Bartier S, Coste A, Dufour X, Bainaud M,
            Lecron JC, Louis B, Tringali S, Favot L and Fieux M.
  TITLE     Oncostatin M Contributes to Airway Epithelial Cell Dysfunction in
            Chronic Rhinosinusitis with Nasal Polyps
  JOURNAL   Int J Mol Sci 24 (7), 6094 (2023)
   PUBMED   37047067
  REMARK    GeneRIF: Oncostatin M Contributes to Airway Epithelial Cell
            Dysfunction in Chronic Rhinosinusitis with Nasal Polyps.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 252)
  AUTHORS   Jengelley DHA, Wang M, Narasimhan A, Rupert JE, Young AR, Zhong X,
            Horan DJ, Robling AG, Koniaris LG and Zimmers TA.
  TITLE     Exogenous Oncostatin M induces Cardiac Dysfunction, Musculoskeletal
            Atrophy, and Fibrosis
  JOURNAL   Cytokine 159, 155972 (2022)
   PUBMED   36054964
  REMARK    GeneRIF: Exogenous Oncostatin M induces Cardiac Dysfunction,
            Musculoskeletal Atrophy, and Fibrosis.
REFERENCE   3  (residues 1 to 252)
  AUTHORS   Di Maira G, Foglia B, Napione L, Turato C, Maggiora M, Sutti S,
            Novo E, Alvaro M, Autelli R, Colombatto S, Bussolino F, Carucci P,
            Gaia S, Rosso C, Biasiolo A, Pontisso P, Bugianesi E, Albano E,
            Marra F, Parola M and Cannito S.
  TITLE     Oncostatin M is overexpressed in NASH-related hepatocellular
            carcinoma and promotes cancer cell invasiveness and angiogenesis
  JOURNAL   J Pathol 257 (1), 82-95 (2022)
   PUBMED   35064579
  REMARK    GeneRIF: Oncostatin M is overexpressed in NASH-related
            hepatocellular carcinoma and promotes cancer cell invasiveness and
            angiogenesis.
REFERENCE   4  (residues 1 to 252)
  AUTHORS   Kubin T, Gajawada P, Bramlage P, Hein S, Berge B, Cetinkaya A,
            Burger H, Schonburg M, Schaper W, Choi YH and Richter M.
  TITLE     The Role of Oncostatin M and Its Receptor Complexes in
            Cardiomyocyte Protection, Regeneration, and Failure
  JOURNAL   Int J Mol Sci 23 (3), 1811 (2022)
   PUBMED   35163735
  REMARK    GeneRIF: The Role of Oncostatin M and Its Receptor Complexes in
            Cardiomyocyte Protection, Regeneration, and Failure.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 252)
  AUTHORS   Headland SE, Dengler HS, Xu D, Teng G, Everett C, Ratsimandresy RA,
            Yan D, Kang J, Ganeshan K, Nazarova EV, Gierke S, Wedeles CJ, Guidi
            R, DePianto DJ, Morshead KB, Huynh A, Mills J, Flanagan S, Hambro
            S, Nunez V, Klementowicz JE, Shi Y, Wang J, Bevers J 3rd,
            Ramirez-Carrozzi V, Pappu R, Abbas A, Vander Heiden J, Choy DF,
            Yadav R, Modrusan Z, Panettieri RA Jr, Koziol-White C, Jester WF
            Jr, Jenkins BJ, Cao Y, Clarke C, Austin C, Lafkas D, Xu M, Wolters
            PJ, Arron JR, West NR and Wilson MS.
  TITLE     Oncostatin M expression induced by bacterial triggers drives airway
            inflammatory and mucus secretion in severe asthma
  JOURNAL   Sci Transl Med 14 (627), eabf8188 (2022)
   PUBMED   35020406
  REMARK    GeneRIF: Oncostatin M expression induced by bacterial triggers
            drives airway inflammatory and mucus secretion in severe asthma.
REFERENCE   6  (residues 1 to 252)
  AUTHORS   Richards CD.
  TITLE     The enigmatic cytokine oncostatin m and roles in disease
  JOURNAL   ISRN Inflamm 2013, 512103 (2013)
   PUBMED   24381786
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 252)
  AUTHORS   Gearing DP, Comeau MR, Friend DJ, Gimpel SD, Thut CJ, McGourty J,
            Brasher KK, King JA, Gillis S, Mosley B et al.
  TITLE     The IL-6 signal transducer, gp130: an oncostatin M receptor and
            affinity converter for the LIF receptor
  JOURNAL   Science 255 (5050), 1434-1437 (1992)
   PUBMED   1542794
REFERENCE   8  (residues 1 to 252)
  AUTHORS   Miles SA, Martinez-Maza O, Rezai A, Magpantay L, Kishimoto T,
            Nakamura S, Radka SF and Linsley PS.
  TITLE     Oncostatin M as a potent mitogen for AIDS-Kaposi's sarcoma-derived
            cells
  JOURNAL   Science 255 (5050), 1432-1434 (1992)
   PUBMED   1542793
REFERENCE   9  (residues 1 to 252)
  AUTHORS   Gearing DP and Bruce AG.
  TITLE     Oncostatin M binds the high-affinity leukemia inhibitory factor
            receptor
  JOURNAL   New Biol 4 (1), 61-65 (1992)
   PUBMED   1536831
REFERENCE   10 (residues 1 to 252)
  AUTHORS   Rose TM and Bruce AG.
  TITLE     Oncostatin M is a member of a cytokine family that includes
            leukemia-inhibitory factor, granulocyte colony-stimulating factor,
            and interleukin 6
  JOURNAL   Proc Natl Acad Sci U S A 88 (19), 8641-8645 (1991)
   PUBMED   1717982
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004264.1, CR981101.1 and
            BC011589.1.
            
            Summary: This gene encodes a member of the leukemia inhibitory
            factor/oncostatin-M (LIF/OSM) family of proteins. The encoded
            preproprotein is proteolytically processed to generate the mature
            protein. This protein is a secreted cytokine and growth regulator
            that inhibits the proliferation of a number of tumor cell lines.
            This protein also regulates the production of other cytokines,
            including interleukin 6, granulocyte-colony stimulating factor and
            granulocyte-macrophage colony stimulating factor in endothelial
            cells. This gene and the related gene, leukemia inhibitory factor,
            also present on chromosome 22, may have resulted from the
            duplication of a common ancestral gene. Alternative splicing
            results in multiple transcript variants, at least one of which
            encodes an isoform that is proteolytically processed. [provided by
            RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC011589.1, BM544068.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000215781.3/ ENSP00000215781.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..252
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..252
                     /product="oncostatin-M isoform 1 preproprotein"
                     /calculated_mol_wt=25796
     sig_peptide     1..25
                     /calculated_mol_wt=2706
     proprotein      26..252
                     /product="oncostatin-M isoform 1 proprotein"
                     /experiment="EXISTENCE:protein separation followed by
                     direct sequencing evidence [ECO:0000158][PMID:3540948,
                     PMID:1542792]"
                     /calculated_mol_wt=25796
     mat_peptide     26..221
                     /product="oncostatin-M isoform 1"
                     /experiment="EXISTENCE:Western blot evidence
                     [ECO:0000112][PMID:2325640]"
                     /calculated_mol_wt=22151
     Region          37..209
                     /region_name="LIF_OSM"
                     /note="LIF / OSM family; pfam01291"
                     /db_xref="CDD:396039"
     CDS             1..252
                     /gene="OSM"
                     /coded_by="NM_020530.6:53..811"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS13873.1"
                     /db_xref="GeneID:5008"
                     /db_xref="HGNC:HGNC:8506"
                     /db_xref="MIM:165095"
ORIGIN      
        1 mgvlltqrtl lslvlallfp smasmaaigs cskeyrvllg qlqkqtdlmq dtsrlldpyi
       61 riqgldvpkl rehcrerpga fpseetlrgl grrgflqtln atlgcvlhrl adleqrlpka
      121 qdlersglni edleklqmar pnilglrnni ycmaqlldns dtaeptkagr gasqpptptp
      181 asdafqrkle gcrflhgyhr fmhsvgrvfs kwgespnrsr rhsphqalrk gvrrtrpsrk
      241 gkrlmtrgql pr
//
LOCUS       NP_004212                188 aa            linear   PRI 17-APR-2023
DEFINITION  interleukin-32 isoform B [Homo sapiens].
ACCESSION   NP_004212
VERSION     NP_004212.4
DBSOURCE    REFSEQ: accession NM_004221.7
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 188)
  AUTHORS   Zamani B, Momen-Heravi M, Erami M, Motedayyen H and ArefNezhad R.
  TITLE     Impacts of IL-27 and IL-32 in the pathogenesis and outcome of
            COVID-19 associated mucormycosis
  JOURNAL   J Immunoassay Immunochem 44 (3), 242-255 (2023)
   PUBMED   36602425
  REMARK    GeneRIF: Impacts of IL-27 and IL-32 in the pathogenesis and outcome
            of COVID-19 associated mucormycosis.
REFERENCE   2  (residues 1 to 188)
  AUTHORS   Bunet R, Roy-Cardinal MH, Ramani H, Cleret-Buhot A, Durand M,
            Chartrand-Lefebvre C, Routy JP, Thomas R, Trottier B, Ancuta P,
            Hanna DB, Landay AL, Cloutier G, Tremblay CL and El-Far M.
  TITLE     Differential Impact of IL-32 Isoforms on the Functions of Coronary
            Artery Endothelial Cells: A Potential Link with Arterial Stiffness
            and Atherosclerosis
  JOURNAL   Viruses 15 (3), 700 (2023)
   PUBMED   36992409
  REMARK    GeneRIF: Differential Impact of IL-32 Isoforms on the Functions of
            Coronary Artery Endothelial Cells: A Potential Link with Arterial
            Stiffness and Atherosclerosis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 188)
  AUTHORS   Numasaki M, Ito K, Takagi K, Nagashima K, Notsuda H, Ogino H, Ando
            R, Tomioka Y, Suzuki T, Okada Y, Nishioka Y and Unno M.
  TITLE     Diverse and divergent functions of IL-32beta and IL-32gamma
            isoforms in the regulation of malignant pleural mesothelioma cell
            growth and the production of VEGF-A and CXCL8
  JOURNAL   Cell Immunol 383, 104652 (2023)
   PUBMED   36516653
  REMARK    GeneRIF: Diverse and divergent functions of IL-32beta and
            IL-32gamma isoforms in the regulation of malignant pleural
            mesothelioma cell growth and the production of VEGF-A and CXCL8.
REFERENCE   4  (residues 1 to 188)
  AUTHORS   Peng Y, Zhong X, Wang Y, Zhou B, Song Y, Su M, Li Z, Li Q and Rao
            L.
  TITLE     Genetic Association between Polymorphisms of Interleukin-32 and
            Dilated Cardiomyopathy in Chinese Han Population
  JOURNAL   Dis Markers 2022, 5946290 (2022)
   PUBMED   36505098
  REMARK    GeneRIF: Genetic Association between Polymorphisms of
            Interleukin-32 and Dilated Cardiomyopathy in Chinese Han
            Population.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 188)
  AUTHORS   Zamani B, Najafizadeh M, Motedayyen H and Arefnezhad R.
  TITLE     Predicting roles of IL-27 and IL-32 in determining the severity and
            outcome of COVID-19
  JOURNAL   Int J Immunopathol Pharmacol 36, 3946320221145827 (2022)
   PUBMED   36476070
  REMARK    GeneRIF: Predicting roles of IL-27 and IL-32 in determining the
            severity and outcome of COVID-19.
REFERENCE   6  (residues 1 to 188)
  AUTHORS   Goda C, Kanaji T, Kanaji S, Tanaka G, Arima K, Ohno S and Izuhara
            K.
  TITLE     Involvement of IL-32 in activation-induced cell death in T cells
  JOURNAL   Int Immunol 18 (2), 233-240 (2006)
   PUBMED   16410314
  REMARK    GeneRIF: results strongly indicate that IL-32 is involved in
            activation-induced cell death in T cells, probably via its
            intracellular actions
REFERENCE   7  (residues 1 to 188)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   8  (residues 1 to 188)
  AUTHORS   Kim SH, Han SY, Azam T, Yoon DY and Dinarello CA.
  TITLE     Interleukin-32: a cytokine and inducer of TNFalpha
  JOURNAL   Immunity 22 (1), 131-142 (2005)
   PUBMED   15664165
REFERENCE   9  (residues 1 to 188)
  AUTHORS   Bernot A, Heilig R, Clepet C, Smaoui N, Da Silva C, Petit JL,
            Devaud C, Chiannilkulchai N, Fizames C, Samson D, Cruaud C,
            Caloustian C, Gyapay G, Delpech M and Weissenbach J.
  TITLE     A transcriptional Map of the FMF region
  JOURNAL   Genomics 50 (2), 147-160 (1998)
   PUBMED   9653642
REFERENCE   10 (residues 1 to 188)
  AUTHORS   Dahl CA, Schall RP, He HL and Cairns JS.
  TITLE     Identification of a novel gene expressed in activated natural
            killer cells and T cells
  JOURNAL   J Immunol 148 (2), 597-603 (1992)
   PUBMED   1729377
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC108134.3.
            On Mar 17, 2005 this sequence version replaced NP_004212.3.
            
            Summary: This gene encodes a member of the cytokine family. The
            protein contains a tyrosine sulfation site, 3 potential
            N-myristoylation sites, multiple putative phosphorylation sites,
            and an RGD cell-attachment sequence. Expression of this protein is
            increased after the activation of T-cells by mitogens or the
            activation of NK cells by IL-2. This protein induces the production
            of TNFalpha from macrophage cells. Alternate transcriptional splice
            variants, encoding different isoforms, have been characterized.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' UTR compared to variant 1. Variants 1 and 2 encode the same
            protein, isoform B, also referred to as IL-32beta.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BP343400.1, AY495332.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..188
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..188
                     /product="interleukin-32 isoform B"
                     /note="natural killer cell transcript 4; natural killer
                     cells protein 4; tumor necrosis factor alpha-inducing
                     factor; interleukin-32 theta; interleukin-32 small;
                     interleukin-32 eta"
                     /calculated_mol_wt=21606
     Region          69..164
                     /region_name="IL32"
                     /note="Interleukin 32; pfam15225"
                     /db_xref="CDD:434548"
     CDS             1..188
                     /gene="IL32"
                     /gene_synonym="IL-32alpha; IL-32beta; IL-32delta;
                     IL-32gamma; NK4; TAIF; TAIFa; TAIFb; TAIFc; TAIFd"
                     /coded_by="NM_004221.7:121..687"
                     /note="isoform B is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS32377.1"
                     /db_xref="GeneID:9235"
                     /db_xref="HGNC:HGNC:16830"
                     /db_xref="MIM:606001"
ORIGIN      
        1 mcfpkvlsdd mkklkarmhq aierfydkmq naesgrgqvm sslaeleddf kegyletvaa
       61 yyeeqhpelt pllekerdgl rcrgnrspvp dvedpateep gesfcdkvmr wfqamlqrlq
      121 twwhgvlawv kekvvalvha vqalwkqfqs fccslselfm ssfqsygapr gdkeeltpqk
      181 csepqssk
//
LOCUS       NP_001131021              89 aa            linear   PRI 11-JUN-2022
DEFINITION  protein FAM25G [Homo sapiens].
ACCESSION   NP_001131021 XP_001717055
VERSION     NP_001131021.1
DBSOURCE    REFSEQ: accession NM_001137549.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 89)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD,
            Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird
            G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson
            T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan
            S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou
            T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore
            N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J,
            Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead
            SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T,
            Doucette-Stamm L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL591684.7.
            On Nov 13, 2008 this sequence version replaced XP_001717055.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14243140.1918985.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000452267.2/ ENSP00000413896.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..89
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     Protein         1..89
                     /product="protein FAM25G"
                     /note="protein FAM25; Protein FAM25C"
                     /calculated_mol_wt=9188
     Region          24..88
                     /region_name="FAM25"
                     /note="FAM25 family; pfam15825"
                     /db_xref="CDD:374147"
     CDS             1..89
                     /gene="FAM25G"
                     /gene_synonym="bA301J7.4; FAM25A; FAM25B; FAM25C"
                     /coded_by="NM_001137549.2:27..296"
                     /db_xref="CCDS:CCDS73124.1"
                     /db_xref="GeneID:100133093"
                     /db_xref="HGNC:HGNC:23590"
ORIGIN      
        1 mlgglgklaa eglahrteka tegaihavee vvkevvghak etgekaiaea ikkaqesgdk
       61 kmkeitetvt ntvtnaitha aesldklgq
//
LOCUS       NP_001308387             761 aa            linear   PRI 18-DEC-2022
DEFINITION  DNA repair protein REV1 isoform 5 [Homo sapiens].
ACCESSION   NP_001308387 XP_011509641
VERSION     NP_001308387.1
DBSOURCE    REFSEQ: accession NM_001321458.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 761)
  AUTHORS   Chen Y, Jie X, Xing B, Wu Z, Yang X, Rao X, Xu Y, Zhou D, Dong X,
            Zhang T, Yang K, Li Z and Wu G.
  TITLE     REV1 promotes lung tumorigenesis by activating the Rad18/SERTAD2
            axis
  JOURNAL   Cell Death Dis 13 (2), 110 (2022)
   PUBMED   35115490
  REMARK    GeneRIF: REV1 promotes lung tumorigenesis by activating the
            Rad18/SERTAD2 axis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 761)
  AUTHORS   Bi T, Niu X, Qin C and Xiao W.
  TITLE     Genetic and physical interactions between Poleta and Rev1 in
            response to UV-induced DNA damage in mammalian cells
  JOURNAL   Sci Rep 11 (1), 21364 (2021)
   PUBMED   34725419
  REMARK    GeneRIF: Genetic and physical interactions between Poleta and Rev1
            in response to UV-induced DNA damage in mammalian cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 761)
  AUTHORS   Taglialatela A, Leuzzi G, Sannino V, Cuella-Martin R, Huang JW,
            Wu-Baer F, Baer R, Costanzo V and Ciccia A.
  TITLE     REV1-Polzeta maintains the viability of homologous
            recombination-deficient cancer cells through mutagenic repair of
            PRIMPOL-dependent ssDNA gaps
  JOURNAL   Mol Cell 81 (19), 4008-4025 (2021)
   PUBMED   34508659
  REMARK    GeneRIF: REV1-Polzeta maintains the viability of homologous
            recombination-deficient cancer cells through mutagenic repair of
            PRIMPOL-dependent ssDNA gaps.
REFERENCE   4  (residues 1 to 761)
  AUTHORS   Ketkar A, Smith L, Johnson C, Richey A, Berry M, Hartman JH,
            Maddukuri L, Reed MR, Gunderson JEC, Leung JWC and Eoff RL.
  TITLE     Human Rev1 relies on insert-2 to promote selective binding and
            accurate replication of stabilized G-quadruplex motifs
  JOURNAL   Nucleic Acids Res 49 (4), 2065-2084 (2021)
   PUBMED   33555350
  REMARK    GeneRIF: Human Rev1 relies on insert-2 to promote selective binding
            and accurate replication of stabilized G-quadruplex motifs.
REFERENCE   5  (residues 1 to 761)
  AUTHORS   Rajagopalan R, Tsai EA, Grochowski CM, Kelly SM, Loomes KM, Spinner
            NB and Devoto M.
  TITLE     Exome Sequencing in Individuals with Isolated Biliary Atresia
  JOURNAL   Sci Rep 10 (1), 2709 (2020)
   PUBMED   32066793
  REMARK    GeneRIF: Exome Sequencing in Individuals with Isolated Biliary
            Atresia.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 761)
  AUTHORS   Masuda Y, Takahashi M, Tsunekuni N, Minami T, Sumii M, Miyagawa K
            and Kamiya K.
  TITLE     Deoxycytidyl transferase activity of the human REV1 protein is
            closely associated with the conserved polymerase domain
  JOURNAL   J Biol Chem 276 (18), 15051-15058 (2001)
   PUBMED   11278384
REFERENCE   7  (residues 1 to 761)
  AUTHORS   Wixler V, Geerts D, Laplantine E, Westhoff D, Smyth N, Aumailley M,
            Sonnenberg A and Paulsson M.
  TITLE     The LIM-only protein DRAL/FHL2 binds to the cytoplasmic domain of
            several alpha and beta integrin chains and is recruited to adhesion
            complexes
  JOURNAL   J Biol Chem 275 (43), 33669-33678 (2000)
   PUBMED   10906324
REFERENCE   8  (residues 1 to 761)
  AUTHORS   Gibbs PE, Wang XD, Li Z, McManus TP, McGregor WG, Lawrence CW and
            Maher VM.
  TITLE     The function of the human homolog of Saccharomyces cerevisiae REV1
            is required for mutagenesis induced by UV light
  JOURNAL   Proc Natl Acad Sci U S A 97 (8), 4186-4191 (2000)
   PUBMED   10760286
REFERENCE   9  (residues 1 to 761)
  AUTHORS   Lin W, Xin H, Zhang Y, Wu X, Yuan F and Wang Z.
  TITLE     The human REV1 gene codes for a DNA template-dependent dCMP
            transferase
  JOURNAL   Nucleic Acids Res 27 (22), 4468-4475 (1999)
   PUBMED   10536157
REFERENCE   10 (residues 1 to 761)
  AUTHORS   Wixler V, Laplantine E, Geerts D, Sonnenberg A, Petersohn D, Eckes
            B, Paulsson M and Aumailley M.
  TITLE     Identification of novel interaction partners for the conserved
            membrane proximal region of alpha-integrin cytoplasmic domains
  JOURNAL   FEBS Lett 445 (2-3), 351-355 (1999)
   PUBMED   10094488
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY010913.1, AB047646.1,
            DA304601.1, AC018690.5 and BM683065.1.
            On Mar 25, 2016 this sequence version replaced XP_011509641.1.
            
            Summary: This gene encodes a protein with similarity to the S.
            cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a
            BRCT domain, which is important in protein-protein interactions. A
            suggested role for the human Rev1-like protein is as a scaffold
            that recruits DNA polymerases involved in translesion synthesis
            (TLS) of damaged DNA. [provided by RefSeq, Mar 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..761
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     Protein         1..761
                     /product="DNA repair protein REV1 isoform 5"
                     /note="REV1- like; DNA repair protein REV1; alpha
                     integrin-binding protein 80; rev1-like terminal
                     deoxycytidyl transferase; REV1 homolog; REV1, polymerase
                     (DNA directed)"
                     /calculated_mol_wt=83450
     Region          <27..334
                     /region_name="PolY_Rev1"
                     /note="DNA polymerase Rev1; cd01701"
                     /db_xref="CDD:176455"
     Region          439..472
                     /region_name="Rev1_UBM2"
                     /note="Ubiquitin-Binding Motif 2 (UBM2) of Y-family
                     polymerase Rev1; cd19318"
                     /db_xref="CDD:412037"
     Site            order(441..443,447..449,451..452,455..457,459..460,463,
                     467)
                     /site_type="other"
                     /note="ubiquitin binding interface [polypeptide binding]"
                     /db_xref="CDD:412037"
     Region          515..550
                     /region_name="Rev1_UBM2"
                     /note="Ubiquitin-Binding Motif 2 (UBM2) of Y-family
                     polymerase Rev1; cd19318"
                     /db_xref="CDD:412037"
     Site            order(519..521,525..527,529..530,533..535,537..538,541,
                     545)
                     /site_type="other"
                     /note="ubiquitin binding interface [polypeptide binding]"
                     /db_xref="CDD:412037"
     Region          667..760
                     /region_name="Rev1_C"
                     /note="C-terminal domain of the Y-family polymerase Rev1;
                     cd12145"
                     /db_xref="CDD:213388"
     Site            order(668..673,681..682,685,689,691..693,695..696,
                     699..700)
                     /site_type="other"
                     /note="Polymerase eta interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:213388"
     CDS             1..761
                     /gene="REV1"
                     /gene_synonym="AIBP80; REV1L"
                     /coded_by="NM_001321458.2:1806..4091"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:51455"
                     /db_xref="HGNC:HGNC:14060"
                     /db_xref="MIM:606134"
ORIGIN      
        1 mynavgistt veplqehgig qlgigwqlgi kngmffghak qlcpnlqavp ydfhaykeva
       61 qtlyetlasy thnieavscd ealvditeil aetkltpdef anavrmeikd qtkcaasvgi
      121 gsnillarma trkakpdgqy hlkpeevddf irgqlvtnlp gvghsmeskl aslgiktcgd
      181 lqymtmaklq kefgpktgqm lyrfcrgldd rpvrtekerk svsaeinygi rftqpkeaea
      241 fllslseeiq rrleatgmkg krltlkimvr kpgapvetak fgghgicdni artvtldqat
      301 dnakiigkam lnmfhtmkln isdmrgvgih vnqlvptnln pstcpsrpsv qsshfpsgsy
      361 svrdvfqvqk akksteeehk evfraavdle issasrtctf lppfpahlpt spdtnkaess
      421 gkwnglhtpv svqsrlnlsi evpspsqldq svlealppdl reqveqvcav qqaeshgdkk
      481 kepvngcntg ilpqpvgtvl lqipepqesn sdaginlial pafsqvdpev faalpaelqr
      541 elkaaydqrq rqgensthqq sasasvpknp llhlkaavke kkrnkkkkti gspkriqspl
      601 nnkllnspak tlpgacgspq klidgflkhe gppaekplee lsastsgvpg lsslqsdpag
      661 cvrppapnla gavefndvkt llrewittis dpmeedilqv vkyctdliee kdlekldlvi
      721 kymkrlmqqs vesvwnmafd fildnvqvvl qqtygstlkv t
//
LOCUS       NP_001353907             343 aa            linear   PRI 24-DEC-2022
DEFINITION  calcium/calmodulin-dependent protein kinase type 1B isoform c [Homo
            sapiens].
ACCESSION   NP_001353907
VERSION     NP_001353907.1
DBSOURCE    REFSEQ: accession NM_001366978.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 343)
  AUTHORS   Cho YA, Choi S, Park S, Park CK and Ha SY.
  TITLE     Expression of Pregnancy Up-regulated Non-ubiquitous Calmodulin
            Kinase (PNCK) in Hepatocellular Carcinoma
  JOURNAL   Cancer Genomics Proteomics 17 (6), 747-755 (2020)
   PUBMED   33099476
  REMARK    GeneRIF: Expression of Pregnancy Up-regulated Non-ubiquitous
            Calmodulin Kinase (PNCK) in Hepatocellular Carcinoma.
REFERENCE   2  (residues 1 to 343)
  AUTHORS   Deb TB, Zuo AH, Barndt RJ, Sengupta S, Jankovic R and Johnson MD.
  TITLE     Pnck overexpression in HER-2 gene-amplified breast cancer causes
            Trastuzumab resistance through a paradoxical PTEN-mediated process
  JOURNAL   Breast Cancer Res Treat 150 (2), 347-361 (2015)
   PUBMED   25773930
  REMARK    GeneRIF: Pnck may be a marker of Trastuzumab resistance and
            possibly a therapeutic target in breast cancer.
REFERENCE   3  (residues 1 to 343)
  AUTHORS   Wu S, Lv Z, Wang Y, Sun L, Jiang Z, Xu C, Zhao J, Sun X, Li X, Hu
            L, Tang A, Gui Y, Zhou F, Cai Z and Wang R.
  TITLE     Increased expression of pregnancy up-regulated non-ubiquitous
            calmodulin kinase is associated with poor prognosis in clear cell
            renal cell carcinoma
  JOURNAL   PLoS One 8 (4), e59936 (2013)
   PUBMED   23634203
  REMARK    GeneRIF: the relationship between PNCK and prognosis in clear cell
            renal cell carcinoma
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 343)
  AUTHORS   Deb TB, Zuo AH, Wang Y, Barndt RJ, Cheema AK, Sengupta S, Coticchia
            CM and Johnson MD.
  TITLE     Pnck induces ligand-independent EGFR degradation by probable
            perturbation of the Hsp90 chaperone complex
  JOURNAL   Am J Physiol Cell Physiol 300 (5), C1139-C1154 (2011)
   PUBMED   21325639
  REMARK    GeneRIF: Pnck induces epidermal growth factor receptor degradation,
            most likely through perturbation of Hsp90 chaperone activity due to
            Hsp90 phosphorylation.  Epidermal growth factor receptor
            degradation is coupled to proteasomal degradation of Pnck.
REFERENCE   5  (residues 1 to 343)
  AUTHORS   Deb TB, Coticchia CM, Barndt R, Zuo H, Dickson RB and Johnson MD.
  TITLE     Pregnancy-upregulated nonubiquitous calmodulin kinase induces
            ligand-independent EGFR degradation
  JOURNAL   Am J Physiol Cell Physiol 295 (2), C365-C377 (2008)
   PUBMED   18562482
  REMARK    GeneRIF: Pnck induces ligand-independent EGFR degradation, and it
            may represent an attractive therapeutic target in EGFR-regulated
            oncogenesis.
REFERENCE   6  (residues 1 to 343)
  AUTHORS   Gardner HP, Ha SI, Reynolds C and Chodosh LA.
  TITLE     The caM kinase, Pnck, is spatially and temporally regulated during
            murine mammary gland development and may identify an epithelial
            cell subtype involved in breast cancer
  JOURNAL   Cancer Res 60 (19), 5571-5577 (2000)
   PUBMED   11034105
REFERENCE   7  (residues 1 to 343)
  AUTHORS   Gardner HP, Rajan JV, Ha SI, Copeland NG, Gilbert DJ, Jenkins NA,
            Marquis ST and Chodosh LA.
  TITLE     Cloning, characterization, and chromosomal localization of Pnck, a
            Ca(2+)/calmodulin-dependent protein kinase
  JOURNAL   Genomics 63 (2), 279-288 (2000)
   PUBMED   10673339
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            U52111.3.
            
            Summary: PNCK is a member of the calcium/calmodulin-dependent
            protein kinase family of protein serine/threonine kinases (see
            CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed
            10673339]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (6), as well as variants 3-5, 7,
            and 8, encodes isoform c.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.694354.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..343
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..343
                     /product="calcium/calmodulin-dependent protein kinase type
                     1B isoform c"
                     /EC_number="2.7.11.17"
                     /note="pregnancy upregulated non-ubiquitously expressed
                     CaM kinase; calcium/calmodulin-dependent protein kinase
                     type 1B; caMKI-beta; caM-KI beta; caM kinase IB; caM
                     kinase I beta; pregnancy up-regulated
                     non-ubiquitously-expressed CaM kinase"
                     /calculated_mol_wt=38369
     Region          11..287
                     /region_name="STKc_CaMKI_beta"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Calcium/calmodulin-dependent protein kinase Type I beta;
                     cd14169"
                     /db_xref="CDD:271071"
     Site            order(21..25,29,42,44,74,90..93,97,99,135..136,138,
                     140..141,143,156..157,160,173..177,179)
                     /site_type="active"
                     /db_xref="CDD:271071"
     Site            order(21..24,29,42,44,74,90..93,97,140..141,143,156..157)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271071"
     Site            order(25,97,99,135..136,138,140,160,173..177,179)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271071"
     Site            156..177
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271071"
     Region          290..311
                     /region_name="Calmodulin-binding. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P2M8.2)"
     Region          319..343
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P2M8.2)"
     CDS             1..343
                     /gene="PNCK"
                     /gene_synonym="BSTK3; CaMK1b"
                     /coded_by="NM_001366978.1:148..1179"
                     /note="isoform c is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS94698.1"
                     /db_xref="GeneID:139728"
                     /db_xref="HGNC:HGNC:13415"
                     /db_xref="MIM:300680"
ORIGIN      
        1 mlllkkhted issvyeirer lgsgafsevv laqergsahl valkcipkka lrgkealven
       61 eiavlrrish pnivaledvh espshlylam elvtggelfd rimergsyte kdashlvgqv
      121 lgavsylhsl givhrdlkpe nllyatpfed skimvsdfgl skiqagnmlg tacgtpgyva
      181 pelleqkpyg kavdvwalgv isyillcgyp pfydesdpel fsqilrasye fdspfwddis
      241 esakdfirhl lerdpqkrft cqqalrhlwi sgdtafdrdi lgsvseqirk nfarthwkra
      301 fnatsflrhi rklgqipege gaseqgmarh shsglragqp pkw
//
LOCUS       NP_001258016             375 aa            linear   PRI 26-DEC-2022
DEFINITION  vacuolar protein sorting-associated protein 72 homolog isoform 1
            [Homo sapiens].
ACCESSION   NP_001258016
VERSION     NP_001258016.1
DBSOURCE    REFSEQ: accession NM_001271087.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 375)
  AUTHORS   Chen T, Tu Y, Lv D, Lin K, Tang H and Huang W.
  TITLE     Vacuolar protein sorting-associated protein 72 homolog (VPS72)
            binding to lysine acetyltransferase 5 (KAT5) promotes the
            proliferation, invasion and migration of hepatocellular carcinoma
            through regulating phosphatidylinositol 3-kinase (PI3K)/protein
            kinase B (AKT) signaling pathway
  JOURNAL   Bioengineered 13 (4), 9197-9210 (2022)
   PUBMED   35383533
  REMARK    GeneRIF: Vacuolar protein sorting-associated protein 72 homolog
            (VPS72) binding to lysine acetyltransferase 5 (KAT5) promotes the
            proliferation, invasion and migration of hepatocellular carcinoma
            through regulating phosphatidylinositol 3-kinase (PI3K)/protein
            kinase B (AKT) signaling pathway.
REFERENCE   2  (residues 1 to 375)
  AUTHORS   Moreno-Andres D, Yokoyama H, Scheufen A, Holzer G, Lue H,
            Schellhaus AK, Weberruss M, Takagi M and Antonin W.
  TITLE     VPS72/YL1-Mediated H2A.Z Deposition Is Required for Nuclear
            Reassembly after Mitosis
  JOURNAL   Cells 9 (7), 1702 (2020)
   PUBMED   32708675
  REMARK    GeneRIF: VPS72/YL1-Mediated H2A.Z Deposition Is Required for
            Nuclear Reassembly after Mitosis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 375)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 375)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 375)
  AUTHORS   Umemoto T, Yamato M, Ishihara J, Shiratsuchi Y, Utsumi M, Morita Y,
            Tsukui H, Terasawa M, Shibata T, Nishida K, Kobayashi Y, Petrich
            BG, Nakauchi H, Eto K and Okano T.
  TITLE     Integrin-alphavbeta3 regulates thrombopoietin-mediated maintenance
            of hematopoietic stem cells
  JOURNAL   Blood 119 (1), 83-94 (2012)
   PUBMED   22096247
REFERENCE   6  (residues 1 to 375)
  AUTHORS   Jin J, Cai Y, Yao T, Gottschalk AJ, Florens L, Swanson SK,
            Gutierrez JL, Coleman MK, Workman JL, Mushegian A, Washburn MP,
            Conaway RC and Conaway JW.
  TITLE     A mammalian chromatin remodeling complex with similarities to the
            yeast INO80 complex
  JOURNAL   J Biol Chem 280 (50), 41207-41212 (2005)
   PUBMED   16230350
REFERENCE   7  (residues 1 to 375)
  AUTHORS   Cai Y, Jin J, Florens L, Swanson SK, Kusch T, Li B, Workman JL,
            Washburn MP, Conaway RC and Conaway JW.
  TITLE     The mammalian YL1 protein is a shared subunit of the TRRAP/TIP60
            histone acetyltransferase and SRCAP complexes
  JOURNAL   J Biol Chem 280 (14), 13665-13670 (2005)
   PUBMED   15647280
  REMARK    GeneRIF: Results identify YL1 as a subunit of the TRRAP/TIP60 HAT
            complex, and also as a component of a novel mammalian multiprotein
            complex that includes the SNF2-related helicase SRCAP.
REFERENCE   8  (residues 1 to 375)
  AUTHORS   Doyon Y, Selleck W, Lane WS, Tan S and Cote J.
  TITLE     Structural and functional conservation of the NuA4 histone
            acetyltransferase complex from yeast to humans
  JOURNAL   Mol Cell Biol 24 (5), 1884-1896 (2004)
   PUBMED   14966270
REFERENCE   9  (residues 1 to 375)
  AUTHORS   Horikawa I, Tanaka H, Yuasa Y, Suzuki M, Shimizu M and Oshimura M.
  TITLE     Forced expression of YL-1 protein suppresses the
            anchorage-independent growth of Kirsten sarcoma virus-transformed
            NIH3T3 cells
  JOURNAL   Exp Cell Res 220 (1), 11-17 (1995)
   PUBMED   7664828
REFERENCE   10 (residues 1 to 375)
  AUTHORS   Horikawa I, Tanaka H, Yuasa Y, Suzuki M and Oshimura M.
  TITLE     Molecular cloning of a novel human cDNA on chromosome 1q21 and its
            mouse homolog encoding a nuclear protein with DNA-binding ability
  JOURNAL   Biochem Biophys Res Commun 208 (3), 999-1007 (1995)
   PUBMED   7702631
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ655941.2, CX163016.1,
            BU539181.1, AA128103.1 and AW194498.1.
            
            Summary: The protein encoded by this gene is a shared subunit of
            two multi-component complexes, the histone acetyltransferase
            complex TRRAP/TIP60 as well as the chromatin remodeling
            SRCAP-containing complex. The TRRAP/TIP60 complex acetylates
            nucleosomal histones important for transcriptional regulation,
            double strand DNA break repair and apoptosis. The SRCAP-containing
            complex catalyzes the exchange of histone H2A with the histone
            variant Htz1 (H2AFZ) into nucleosomes. This protein may be
            responsible for binding H2AFZ, which has a role in chromosome
            segregation. This protein may also have a role in regulating
            long-term hematopoietic stem cell activity. Alternative splicing
            results in multiple transcript variants that encode different
            protein isoforms. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.326289.1,
                                           SRR14038193.3735219.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..375
                     /product="vacuolar protein sorting-associated protein 72
                     homolog isoform 1"
                     /note="vacuolar protein sorting-associated protein 72
                     homolog; transformation suppressor gene YL-1;
                     transcription factor-like 1"
                     /calculated_mol_wt=41717
     Region          7..216
                     /region_name="YL1"
                     /note="YL1 nuclear protein; pfam05764"
                     /db_xref="CDD:428620"
     Region          302..330
                     /region_name="YL1_C"
                     /note="YL1 nuclear protein C-terminal domain; pfam08265"
                     /db_xref="CDD:429887"
     CDS             1..375
                     /gene="VPS72"
                     /gene_synonym="CFL1; Swc2; TCFL1; YL-1; YL1"
                     /coded_by="NM_001271087.2:77..1204"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS59201.1"
                     /db_xref="GeneID:6944"
                     /db_xref="HGNC:HGNC:11644"
                     /db_xref="MIM:600607"
ORIGIN      
        1 mslaggrapr ktagnrlsgl leaeeedefy qttyggftee sgddeyqgdq sdtedevdsd
       61 fdidegdeps sdgeaeeprr krrvvtkayk eplkslrprk vntpagssqk areekallpl
      121 elqddgsdsr ksmrqstaeh trqtflrvqe rqgqsrrrkg phcerpltqe ellreakite
      181 elnlrslety erleadkkkq vhkkrkcpgp iityhsvtvp lvgepgpkee nvdiegslcf
      241 slsfvlrldp apsvsaltph agtgpvnppa rcsrtfitfs ddatfeewfp qgrppkvpvr
      301 evcpvthrpa lyrdpvtdip yatarafkii reaykkyita hglpptasal gpgppppepl
      361 pgsgpralrq kivik
//
LOCUS       NP_001317611            1715 aa            linear   PRI 26-DEC-2022
DEFINITION  E3 ubiquitin-protein ligase TTC3 isoform 4 [Homo sapiens].
ACCESSION   NP_001317611 XP_016883955
VERSION     NP_001317611.1
DBSOURCE    REFSEQ: accession NM_001330682.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1715)
  AUTHORS   Zhou X, Chen X, Hong T, Zhang M, Cai Y and Cui L.
  TITLE     TTC3-Mediated Protein Quality Control, A Potential Mechanism for
            Cognitive Impairment
  JOURNAL   Cell Mol Neurobiol 42 (6), 1659-1669 (2022)
   PUBMED   33638766
  REMARK    GeneRIF: TTC3-Mediated Protein Quality Control, A Potential
            Mechanism for Cognitive Impairment.
            Review article
REFERENCE   2  (residues 1 to 1715)
  AUTHORS   Laverde-Paz MJ, Nuytemans K, Wang L, Vance JM, Pericak-Vance MA,
            Dykxhoorn DM and Cukier HN.
  TITLE     Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9
            induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene
  JOURNAL   Stem Cell Res 52, 102258 (2021)
   PUBMED   33626494
  REMARK    GeneRIF: Derivation of stem cell line UMi028-A-2 containing a
            CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in
            the TTC3 gene.
REFERENCE   3  (residues 1 to 1715)
  AUTHORS   Gong Y, Wang K, Xiao SP, Mi P, Li W, Shang Y and Dou F.
  TITLE     Overexpressed TTC3 Protein Tends to be Cleaved into Fragments and
            Form Aggregates in the Nucleus
  JOURNAL   Neuromolecular Med 21 (1), 85-96 (2019)
   PUBMED   30203323
  REMARK    GeneRIF: Overexpressed TTC3 Protein Tends to be Cleaved into
            Fragments and Form Aggregates in the Nucleus.
REFERENCE   4  (residues 1 to 1715)
  AUTHORS   Kim JH, Ham S, Lee Y, Suh GY and Lee YS.
  TITLE     TTC3 contributes to TGF-beta1-induced epithelial-mesenchymal
            transition and myofibroblast differentiation, potentially through
            SMURF2 ubiquitylation and degradation
  JOURNAL   Cell Death Dis 10 (2), 92 (2019)
   PUBMED   30696809
  REMARK    GeneRIF: Data suggest that TTC3 may contribute to TGF-beta1-induced
            EMT and myofibroblast differentiation, potentially through SMURF2
            ubiquitylation/proteasomal degradation and subsequent inhibition of
            SMURF2-mediated suppression of SMAD2 and SMAD3, which in turn
            induces TTC3 expression.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1715)
  AUTHORS   Guedj F, Pennings JL, Massingham LJ, Wick HC, Siegel AE, Tantravahi
            U and Bianchi DW.
  TITLE     An Integrated Human/Murine Transcriptome and Pathway Approach To
            Identify Prenatal Treatments For Down Syndrome
  JOURNAL   Sci Rep 6, 32353 (2016)
   PUBMED   27586445
  REMARK    GeneRIF: USP16 and TTC3 were dysregulated in all affected human
            cells and two mouse models of Down syndrome.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1715)
  AUTHORS   Rachidi M, Lopes C, Gassanova S, Sinet PM, Vekemans M, Attie T,
            Delezoide AL and Delabar JM.
  TITLE     Regional and cellular specificity of the expression of TPRD, the
            tetratricopeptide Down syndrome gene, during human embryonic
            development
  JOURNAL   Mech Dev 93 (1-2), 189-193 (2000)
   PUBMED   10781955
REFERENCE   7  (residues 1 to 1715)
  AUTHORS   Dahmane N, Ghezala GA, Gosset P, Chamoun Z, Dufresne-Zacharia MC,
            Lopes C, Rabatel N, Gassanova-Maugenre S, Chettouh Z, Abramowski V,
            Fayet E, Yaspo ML, Korn B, Blouin JL, Lehrach H, Poutska A,
            Antonarakis SE, Sinet PM, Creau N and Delabar JM.
  TITLE     Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21
            involved in Down syndrome
  JOURNAL   Genomics 48 (1), 12-23 (1998)
   PUBMED   9503011
REFERENCE   8  (residues 1 to 1715)
  AUTHORS   Eki T, Abe M, Naitou M, Sasanuma SI, Nohata J, Kawashima K, Ahmad
            I, Hanaoka F and Murakami Y.
  TITLE     Cloning and characterization of novel gene, DCRR1, expressed from
            Down's syndrome critical region of human chromosome 21q22.2
  JOURNAL   DNA Seq 7 (3-4), 153-164 (1997)
   PUBMED   9254009
REFERENCE   9  (residues 1 to 1715)
  AUTHORS   Tsukahara F, Hattori M, Muraki T and Sakaki Y.
  TITLE     Identification and cloning of a novel cDNA belonging to
            tetratricopeptide repeat gene family from Down syndrome-critical
            region 21q22.2
  JOURNAL   J Biochem 120 (4), 820-827 (1996)
   PUBMED   8947847
REFERENCE   10 (residues 1 to 1715)
  AUTHORS   Ohira M, Ootsuyama A, Suzuki E, Ichikawa H, Seki N, Nagase T,
            Nomura N and Ohki M.
  TITLE     Identification of a novel human gene containing the
            tetratricopeptide repeat domain from the Down syndrome region of
            chromosome 21
  JOURNAL   DNA Res 3 (1), 9-16 (1996)
   PUBMED   8724848
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001429.2, AP001432.2 and KF510554.1.
            On Sep 1, 2016 this sequence version replaced XP_016883955.1.
            
            Transcript Variant: This variant (6), as well as variants 5 and 8,
            encodes isoform 4.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.80078.1,
                                           SRR1660805.63881.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1715
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.13"
     Protein         1..1715
                     /product="E3 ubiquitin-protein ligase TTC3 isoform 4"
                     /EC_number="2.3.2.27"
                     /note="TPR repeat protein D; E3 ubiquitin-protein ligase
                     TTC3; TPR repeat protein 3; RING finger protein 105;
                     tetratricopeptide repeat protein 3; RING-type E3 ubiquitin
                     transferase TTC3"
                     /calculated_mol_wt=193929
     Site            order(181,184..185,188..189,191,227,230..231,234..235,
                     237..238,267,270..271,274..275,278)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          181..208
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          225..258
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          266..292
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          268..295
                     /region_name="TPR"
                     /note="Tetratricopeptide repeats; smart00028"
                     /db_xref="CDD:197478"
     Region          312..427
                     /region_name="DUF5861"
                     /note="Family of unknown function (DUF5861); pfam19179"
                     /db_xref="CDD:437026"
     Region          <1176..>1422
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          1646..1690
                     /region_name="RING-H2_TTC3"
                     /note="RING finger, H2 subclass, found in
                     Tetratricopeptide repeat protein 3 (TTC3) and similar
                     proteins; cd16481"
                     /db_xref="CDD:438144"
     Site            order(1647,1650,1664,1666,1669,1672,1683,1686)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:438144"
     CDS             1..1715
                     /gene="TTC3"
                     /gene_synonym="DCRR1; RNF105; TPRDIII"
                     /coded_by="NM_001330682.2:306..5453"
                     /note="isoform 4 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS93096.1"
                     /db_xref="GeneID:7267"
                     /db_xref="HGNC:HGNC:12393"
                     /db_xref="MIM:602259"
ORIGIN      
        1 mlgeydwalq anikaqklck ndpegikdli qqhvklqkqi edlqgrtank dpikafyenr
       61 aytprslsap ifttslnfve kerdfrkinh emanggnqnl kvadealkvd dcdchpefsp
      121 pssqppkhkg kqksrnnese kfsssspltl padlknilek qfskssraah qdfanimkml
      181 rsliqdgyma lleqrcrsaa qaftellngl dpqkikqlnl aminyvlvvy glaisllgig
      241 qpeelseaen qfkriiehyp segldclayc gigkvylkkn rflealnhfe kartliyrlp
      301 gvltwptsnv iieesqpqki kmllekfvee ckfppvpdai ccyqkchgys kiqiyitdpd
      361 fkgfiriscc qyckiefhmn cwkklktttf ndkidkdflq gicltpdceg viskiiifss
      421 ggevkcefeh kvikekvppr pilkqkcssl eklrlkedkk lkrkiqkkea kklaqermee
      481 dlresnppkn eeqketvdnv qrcqflddri lqcikqyadk iksgiqntam llkellswkv
      541 lstedyttcf ssrnflneav dyvirhliqe nnrvktrifl hvlselkeve pklaawiqkl
      601 nsfgldatgt ffsrygaslk lldfsimtfl wnekyghkld siegkqldyf sepaslkear
      661 cliwlleehr dkfpalhsal deffdimdsr ctvlrkqdsg eapfsstkvk nkskkkkpkd
      721 skpmlvgsgt tsvtsnneii tssedhsnrn sdsagpfavp dhlrqdveef ealydqhsne
      781 yvvrnkklwd mnpkqkcstl ydyfsqflee hgpldmsnkm fsaeyeffpe etrqilekag
      841 glkpfllgcp rfvvidncia lkkvasrlkk krkkkniktk veeiskagey vrvklqlnpa
      901 arefkpdvks kpvsdsssap afenvkpkpv sanspkpace dvkakpvsdn ssrqvsedgq
      961 pkgvssnspk pgsedanykr vscnspkpvl edvkptywaq shlvtgycty lpfqrfditq
     1021 tppayinvlp glpqytsiyt plaslspeyq lprsvpvvps fvandradkn aaayfeghhl
     1081 naenvaghqi asetqilegs lgisvkshcs tgdahtvlse snrndehcgn snnkcevipe
     1141 stsavtniph vqmvaiqvsw niihqevnte pynpfeerqg eisriekehq vlqdqlqevy
     1201 enyeqiklkg leetrdleek lkrhleenki skteldwflq dlereikkwq qekkeiqerl
     1261 kslkkkikkv snasemytqk ndgkekehel hldqsleisn tltnekmkie eyikkgkedy
     1321 eeshqravaa evsvlenwke sevyklqime sqaeaflkkl glisrdpaay pdmesdirsw
     1381 elflsnvtke iekaksqfee qikaikngsr lselskvqis elsfpacntv hpellpessg
     1441 ddgqglvtsa sdvtgnhaal hrdpsvfsag dspgeapsal lpgpppgqpe atqltgpkra
     1501 gqaalsersp vadrkqpvpp graarssqsp kkpfnsiieh lsvvfpcyns telagfikkv
     1561 rsknknslsg lsideivqrv tehildeqkk kkpnpgkdkr tyepssatpv trssqgspsv
     1621 vvapspktkg qkaedvpvri algassceic hevfksknvr vlkcghkyhk gcfkqwlkgq
     1681 sacpacqgrd llteespsgr gwpsqnqelp scssr
//
LOCUS       NP_001274368             842 aa            linear   PRI 27-DEC-2022
DEFINITION  protein Jade-1 isoform 1 [Homo sapiens].
ACCESSION   NP_001274368 XP_005263287
VERSION     NP_001274368.1
DBSOURCE    REFSEQ: accession NM_001287439.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 842)
  AUTHORS   Farrell K, Kim S, Han N, Iida MA, Gonzalez EM, Otero-Garcia M,
            Walker JM, Richardson TE, Renton AE, Andrews SJ, Fulton-Howard B,
            Humphrey J, Vialle RA, Bowles KR, de Paiva Lopes K, Whitney K,
            Dangoor DK, Walsh H, Marcora E, Hefti MM, Casella A, Sissoko CT,
            Kapoor M, Novikova G, Udine E, Wong G, Tang W, Bhangale T,
            Hunkapiller J, Ayalon G, Graham RR, Cherry JD, Cortes EP, Borukov
            VY, McKee AC, Stein TD, Vonsattel JP, Teich AF, Gearing M, Glass J,
            Troncoso JC, Frosch MP, Hyman BT, Dickson DW, Murray ME, Attems J,
            Flanagan ME, Mao Q, Mesulam MM, Weintraub S, Woltjer RL, Pham T,
            Kofler J, Schneider JA, Yu L, Purohit DP, Haroutunian V, Hof PR,
            Gandy S, Sano M, Beach TG, Poon W, Kawas CH, Corrada MM, Rissman
            RA, Metcalf J, Shuldberg S, Salehi B, Nelson PT, Trojanowski JQ,
            Lee EB, Wolk DA, McMillan CT, Keene CD, Latimer CS, Montine TJ,
            Kovacs GG, Lutz MI, Fischer P, Perrin RJ, Cairns NJ, Franklin EE,
            Cohen HT, Raj T, Cobos I, Frost B, Goate A, White Iii CL and Crary
            JF.
  TITLE     Genome-wide association study and functional validation implicates
            JADE1 in tauopathy
  JOURNAL   Acta Neuropathol 143 (1), 33-53 (2022)
   PUBMED   34719765
  REMARK    GeneRIF: Genome-wide association study and functional validation
            implicates JADE1 in tauopathy.
REFERENCE   2  (residues 1 to 842)
  AUTHORS   Han J, Lachance C, Ricketts MD, McCullough CE, Gerace M, Black BE,
            Cote J and Marmorstein R.
  TITLE     The scaffolding protein JADE1 physically links the
            acetyltransferase subunit HBO1 with its histone H3-H4 substrate
  JOURNAL   J Biol Chem 293 (12), 4498-4509 (2018)
   PUBMED   29382722
  REMARK    GeneRIF: results indicate that the N-terminal region of JADE1
            functions as a platform that brings together the catalytic HBO1
            subunit with its cognate H3-H4 substrate for histone acetylation
REFERENCE   3  (residues 1 to 842)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (residues 1 to 842)
  AUTHORS   Vallee Marcotte B, Guenard F, Cormier H, Lemieux S, Couture P,
            Rudkowska I and Vohl MC.
  TITLE     Plasma Triglyceride Levels May Be Modulated by Gene Expression of
            IQCJ, NXPH1, PHF17 and MYB in Humans
  JOURNAL   Int J Mol Sci 18 (2), 257 (2017)
   PUBMED   28134766
  REMARK    GeneRIF: A genome-wide association study (GWAS) identified loci
            associated with the plasma triglyceride (TG) response to omega-3
            fatty acid (FA) supplementation in IQCJ, NXPH1, PHF17 and MYB.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 842)
  AUTHORS   Vallee Marcotte B, Cormier H, Guenard F, Rudkowska I, Lemieux S,
            Couture P and Vohl MC.
  TITLE     Novel Genetic Loci Associated with the Plasma Triglyceride Response
            to an Omega-3 Fatty Acid Supplementation
  JOURNAL   J Nutrigenet Nutrigenomics 9 (1), 1-11 (2016)
   PUBMED   27160456
  REMARK    GeneRIF: identification of SNPs within the IQCJ, NXPH1, PHF17 and
            MYB genes partly explaining the large interindividual variability
            observed in plasma triglyceride levels in response to an n-3 fatty
            acid supplementation
REFERENCE   6  (residues 1 to 842)
  AUTHORS   Doyon Y, Cayrou C, Ullah M, Landry AJ, Cote V, Selleck W, Lane WS,
            Tan S, Yang XJ and Cote J.
  TITLE     ING tumor suppressor proteins are critical regulators of chromatin
            acetylation required for genome expression and perpetuation
  JOURNAL   Mol Cell 21 (1), 51-64 (2006)
   PUBMED   16387653
REFERENCE   7  (residues 1 to 842)
  AUTHORS   Zhou MI, Foy RL, Chitalia VC, Zhao J, Panchenko MV, Wang H and
            Cohen HT.
  TITLE     Jade-1, a candidate renal tumor suppressor that promotes apoptosis
  JOURNAL   Proc Natl Acad Sci U S A 102 (31), 11035-11040 (2005)
   PUBMED   16046545
  REMARK    GeneRIF: Jade-1 may suppress renal cancer cell growth in part by
            increasing apoptosis.
REFERENCE   8  (residues 1 to 842)
  AUTHORS   Panchenko MV, Zhou MI and Cohen HT.
  TITLE     von Hippel-Lindau partner Jade-1 is a transcriptional co-activator
            associated with histone acetyltransferase activity
  JOURNAL   J Biol Chem 279 (53), 56032-56041 (2004)
   PUBMED   15502158
  REMARK    GeneRIF: Jade-1 is a novel candidate transcriptional co-activator
            associated with HAT activity and may play a key role in the
            pathogenesis of renal cancer and von Hippel-Lindau disease
REFERENCE   9  (residues 1 to 842)
  AUTHORS   Tzouanacou E, Tweedie S and Wilson V.
  TITLE     Identification of Jade1, a gene encoding a PHD zinc finger protein,
            in a gene trap mutagenesis screen for genes involved in
            anteroposterior axis development
  JOURNAL   Mol Cell Biol 23 (23), 8553-8562 (2003)
   PUBMED   14612400
REFERENCE   10 (residues 1 to 842)
  AUTHORS   Zhou MI, Wang H, Ross JJ, Kuzmin I, Xu C and Cohen HT.
  TITLE     The von Hippel-Lindau tumor suppressor stabilizes novel plant
            homeodomain protein Jade-1
  JOURNAL   J Biol Chem 277 (42), 39887-39898 (2002)
   PUBMED   12169691
  REMARK    GeneRIF: Jade-1 protein is a novel candidate regulatory factor in
            Von Hippel Lindau-mediated renal tumor suppression
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC308588.1, AK304235.1, BN000287.1 and AC093783.2.
            On Dec 14, 2013 this sequence version replaced XP_005263287.1.
            
            Transcript Variant: This variant (4) differs in the 5' UTR,
            compared to variant 1. Variants 1, 4, 5, 7, and 8 encode the same
            isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.97124.1,
                                           SRR1660809.256368.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..842
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q28.2"
     Protein         1..842
                     /product="protein Jade-1 isoform 1"
                     /note="PHD protein Jade-1; gene for apoptosis and
                     differentiation in epithelia; PHD finger protein 17; jade
                     family PHD finger protein 1"
                     /calculated_mol_wt=95403
     Region          1..43
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IE81.1)"
     Region          60..80
                     /region_name="Interaction with KAT7/HBO1 and histones.
                     /evidence=ECO:0000269|PubMed:29382722"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IE81.1)"
     Region          80..188
                     /region_name="Interaction with histones.
                     /evidence=ECO:0000269|PubMed:29382722"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IE81.1)"
     Site            89
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6IE81.1)"
     Site            92
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q6IE81.1)"
     Region          99..>529
                     /region_name="COG5141"
                     /note="PHD zinc finger-containing protein [General
                     function prediction only]"
                     /db_xref="CDD:227470"
     Region          258..368
                     /region_name="ePHD_JADE"
                     /note="Extended PHD finger found in protein Jade-1,
                     Jade-2, Jade-3 and similar proteins; cd15671"
                     /db_xref="CDD:277141"
     Site            order(314,324..328,334,363)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277141"
     Region          366..398
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IE81.1)"
     Region          589..613
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IE81.1)"
     Site            603
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6IE81.1)"
     Site            609
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZPI0; propagated from
                     UniProtKB/Swiss-Prot (Q6IE81.1)"
     Region          678..715
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IE81.1)"
     Site            703
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6IE81.1)"
     Site            743
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6IE81.1)"
     Region          787..825
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IE81.1)"
     CDS             1..842
                     /gene="JADE1"
                     /gene_synonym="PHF17"
                     /coded_by="NM_001287439.2:341..2869"
                     /note="isoform 1 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS34062.1"
                     /db_xref="GeneID:79960"
                     /db_xref="HGNC:HGNC:30027"
                     /db_xref="MIM:610514"
ORIGIN      
        1 mkrgrlpsss edsddngsls ttwsqnsrsq hrrsscsrhe drkpsevfrt dlitamklhd
       61 syqlnpdeyy vladpwrqew ekgvqvpvsp gtipqpvarv vseekslmfi rpkkyivssg
      121 seppelgyvd irtladsvcr ydlndmdaaw leltneefke mgmpeldeyt mervleefeq
      181 rcydnmnhai eteeglgiey dedvvcdvcq spdgedgnem vfcdkcnicv hqacygilkv
      241 pegswlcrtc algvqpkcll cpkkggamkp trsgtkwvhv scalwipevs igspekmepi
      301 tkvshipssr walvcslcne kfgasiqcsv kncrtafhvt cafdrglemk tilaendevk
      361 fksycpkhss hrkpeeslgk gaaqengape csprnplepf asleqnreea hrvsvrkqkl
      421 qqledefytf vnlldvaral rlpeevvdfl yqywklkrkv nfnkplitpk kdeednlakr
      481 eqdvlfrrlq lfthlrqdle rvrnltymvt rrekikrsvc kvqeqifnly tklleqervs
      541 gvpsscssss lenmllfnsp svgpdapkie dlkwhsaffr kqmgtslvhs lkkphkrdpl
      601 qnspgsegkt llkqpdlcgr regmvvpesf lglektfaea rlisaqqkng vvmpdhgkrr
      661 dnrfhcdlik gdlkdksfkq shkplrstdv sqrhldntra atspgvgqsa pgtrkeivpk
      721 cngslikvny nqtavkvptt paspvknwgg fripkkgerq qqgeahdgac hqhsdypylg
      781 lgrvpakera ksklksdnen dgyvpdvems dseseasekk cihtsstisr rtdiirrsil
      841 as
//
LOCUS       NP_001336197             653 aa            linear   PRI 27-DEC-2022
DEFINITION  transmembrane and coiled-coil domains protein 1 isoform a [Homo
            sapiens].
ACCESSION   NP_001336197 XP_011510881
VERSION     NP_001336197.1
DBSOURCE    REFSEQ: accession NM_001349268.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 653)
  AUTHORS   Hoyer MJ, Chitwood PJ, Ebmeier CC, Striepen JF, Qi RZ, Old WM and
            Voeltz GK.
  TITLE     A Novel Class of ER Membrane Proteins Regulates ER-Associated
            Endosome Fission
  JOURNAL   Cell 175 (1), 254-265 (2018)
   PUBMED   30220460
REFERENCE   2  (residues 1 to 653)
  AUTHORS   Zhang C, Kho YS, Wang Z, Chiang YT, Ng GK, Shaw PC, Wang Y and Qi
            RZ.
  TITLE     Transmembrane and coiled-coil domain family 1 is a novel protein of
            the endoplasmic reticulum
  JOURNAL   PLoS One 9 (1), e85206 (2014)
   PUBMED   24454821
  REMARK    GeneRIF: roles of TMCC1 in ER organization
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 653)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human RPE/choroid for the
            NEIBank Project: over 6000 non-redundant transcripts, novel genes
            and splice variants
  JOURNAL   Mol Vis 8, 205-220 (2002)
   PUBMED   12107410
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL449209.2, AC083799.17, AC117492.17 and AC023162.41.
            On Mar 10, 2017 this sequence version replaced XP_011510881.1.
            
            Transcript Variant: This variant (9) encodes the longest isoform
            (a). Variants 1 and 5-9 all encode the same isoform (a).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.158880.1,
                                           SRR18074967.3321127.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..653
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     Protein         1..653
                     /product="transmembrane and coiled-coil domains protein 1
                     isoform a"
                     /calculated_mol_wt=71952
     Region          1..35
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94876.3)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O94876.3)"
     Region          58..78
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94876.3)"
     Region          112..165
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94876.3)"
     Region          204..227
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94876.3)"
     Region          230..638
                     /region_name="Tmemb_cc2"
                     /note="Predicted transmembrane and coiled-coil 2 protein;
                     pfam10267"
                     /db_xref="CDD:431185"
     Site            382
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94876.3)"
     Site            414
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94876.3)"
     Region          415..437
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94876.3)"
     Site            592..612
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94876.3)"
     Site            625..645
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94876.3)"
     CDS             1..653
                     /gene="TMCC1"
                     /coded_by="NM_001349268.2:402..2363"
                     /note="isoform a is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS33855.1"
                     /db_xref="GeneID:23023"
                     /db_xref="HGNC:HGNC:29116"
                     /db_xref="MIM:616242"
ORIGIN      
        1 mepsgseqlf edpdpggksq daearkqtes eqklskmthn aleninvigq glkhlfqhqr
       61 rrssvsphdv qqiqadpepe mdlesqnaca eidgvpthpt alnrvlqqir vppkmkrgts
      121 lhsrrgkpea pkgspqinrk sgqemtavmq sgrprssstt daptssamme iacaaaaaaa
      181 aclpgeegta erierlevss laqtssavas stdgsihtds vdgtpdpqrt kaaiahlqqk
      241 ilklteqiki aqtarddnva eylklansad kqqaarikqv fekknqksaq tilqlqkkle
      301 hyhrklreve qngiprqpkd vfrdmhqglk dvgakvtgfs egvvdsvkgg fssfsqaths
      361 aagavvskpr eiaslirnkf gsadnipnlk dsleegqvdd agkalgvisn fqsspkygse
      421 edcssatsgs vgansttggi avgasssktn tldmqssgfd allheiqeir etqarleesf
      481 etlkehyqrd yslimqtlqe eryrcerlee qlndltelhq neilnlkqel asmeekiayq
      541 syerardiqe aleacqtris kmelqqqqqq vvqleglena tarnllgkli nillavmavl
      601 lvfvstvanc vvplmktrnr tfstlflvvf iaflwkhwda lfsyverffs spr
//
LOCUS       NP_001273382             630 aa            linear   PRI 28-DEC-2022
DEFINITION  protein O-mannosyl-transferase TMTC4 isoform 3 [Homo sapiens].
ACCESSION   NP_001273382 XP_005254138
VERSION     NP_001273382.1
DBSOURCE    REFSEQ: accession NM_001286453.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 630)
  AUTHORS   Makboul R, Abdelkawi IF, Badary DM, Hussein MRA, Rhim JS, Toraih
            EA, Zerfaoui M and Abd Elmageed ZY.
  TITLE     Transmembrane and Tetratricopeptide Repeat Containing 4 Is a Novel
            Diagnostic Marker for Prostate Cancer with High Specificity and
            Sensitivity
  JOURNAL   Cells 10 (5), 1029 (2021)
   PUBMED   33925440
  REMARK    GeneRIF: Transmembrane and Tetratricopeptide Repeat Containing 4 Is
            a Novel Diagnostic Marker for Prostate Cancer with High Specificity
            and Sensitivity.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 630)
  AUTHORS   Eisenhaber B, Sinha S, Jadalanki CK, Shitov VA, Tan QW, Sirota FL
            and Eisenhaber F.
  TITLE     Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4,
            new O-mannosyltransferases from the GT-C/PMT clan, are rationalized
            as ligand binding sites
  JOURNAL   Biol Direct 16 (1), 4 (2021)
   PUBMED   33436046
  REMARK    GeneRIF: Conserved sequence motifs in human TMTC1, TMTC2, TMTC3,
            and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are
            rationalized as ligand binding sites.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 630)
  AUTHORS   Li J, Akil O, Rouse SL, McLaughlin CW, Matthews IR, Lustig LR, Chan
            DK and Sherr EH.
  TITLE     Deletion of Tmtc4 activates the unfolded protein response and
            causes postnatal hearing loss
  JOURNAL   J Clin Invest 128 (11), 5150-5162 (2018)
   PUBMED   30188326
REFERENCE   4  (residues 1 to 630)
  AUTHORS   Larsen ISB, Narimatsu Y, Joshi HJ, Siukstaite L, Harrison OJ,
            Brasch J, Goodman KM, Hansen L, Shapiro L, Honig B, Vakhrushev SY,
            Clausen H and Halim A.
  TITLE     Discovery of an O-mannosylation pathway selectively serving
            cadherins and protocadherins
  JOURNAL   Proc Natl Acad Sci U S A 114 (42), 11163-11168 (2017)
   PUBMED   28973932
REFERENCE   5  (residues 1 to 630)
  AUTHORS   Zeytuni N and Zarivach R.
  TITLE     Structural and functional discussion of the tetra-trico-peptide
            repeat, a protein interaction module
  JOURNAL   Structure 20 (3), 397-405 (2012)
   PUBMED   22404999
  REMARK    Review article
REFERENCE   6  (residues 1 to 630)
  AUTHORS   Christian SL, McDonough J, Liu Cy CY, Shaikh S, Vlamakis V, Badner
            JA, Chakravarti A and Gershon ES.
  TITLE     An evaluation of the assembly of an approximately 15-Mb region on
            human chromosome 13q32-q33 linked to bipolar disorder and
            schizophrenia
  JOURNAL   Genomics 79 (5), 635-656 (2002)
   PUBMED   11991713
REFERENCE   7  (residues 1 to 630)
  AUTHORS   Blatch GL and Lassle M.
  TITLE     The tetratricopeptide repeat: a structural motif mediating
            protein-protein interactions
  JOURNAL   Bioessays 21 (11), 932-939 (1999)
   PUBMED   10517866
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC377683.1, AK299859.1,
            AF339792.1, AL359085.14 and AW513848.1.
            On Nov 6, 2013 this sequence version replaced XP_005254138.1.
            
            Summary: This gene encodes a transmembrane protein that belongs to
            family of proteins containing an N-terminal transmembrane domain
            and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains
            mediate protein-protein interactions in various cellular processes,
            such as synaptic vesicle fusion, protein folding, and protein
            translocation. A pseudogene of this gene has been defined on
            chromosome 5. [provided by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (3) differs in the 5' UTR,
            contains multiple differences in the 5' coding region, and
            initiates translation at a downstream in-frame start codon,
            compared to variant 1. The encoded isoform (3) is shorter than
            isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK299859.1, SRR14038193.2539121.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..630
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.3"
     Protein         1..630
                     /product="protein O-mannosyl-transferase TMTC4 isoform 3"
                     /EC_number="2.4.1.109"
                     /note="transmembrane and TPR repeat-containing protein 4;
                     protein O-mannosyl-transferase TMTC4; transmembrane and
                     tetratricopeptide repeat containing 4"
                     /calculated_mol_wt=70468
     Site            15..35
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T4D3.2)"
     Region          181..255
                     /region_name="DUF1736"
                     /note="Domain of unknown function (DUF1736); pfam08409"
                     /db_xref="CDD:429980"
     Region          370..606
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          371..399
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(372,375..376,379..380,382,406,409..410,413..414,
                     416..417,440,443..444,447..448,451)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          404..434
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          439..467
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          473..499
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          507..535
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          540..570
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          575..603
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..630
                     /gene="TMTC4"
                     /coded_by="NM_001286453.3:107..1999"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS66575.1"
                     /db_xref="GeneID:84899"
                     /db_xref="HGNC:HGNC:25904"
                     /db_xref="MIM:618203"
ORIGIN      
        1 mavldtdldh ilpssvlppf waklvvgsva ivcfarsydg dfvfddseai vnnkvagvvg
       61 radllcalff llsflgycka fresnkegah sstfwvllsi flgavamlck eqgitvlgln
      121 avfdilvigk fnvleivqkv lhkdkslenl gmlrnggllf rmtlltsgga gmlyvrwrim
      181 gtgppaftev dnpasfadsm lvravnynyy yslnawlllc pwwlcfdwsm gcipliksis
      241 dwrvialaal wfcliglicq alcsedghkr riltlglgfl vipflpasnl ffrvgfvvae
      301 rvlylpsvgy cvlltfgfga lskhtkkkkl iaavvlgilf intlrcvlrs gewrseeqlf
      361 rsalsvcpln akvhynigkn ladkgnqtaa iryyreavrl npkyvhamnn lgnilkerne
      421 lqeaeellsl avqiqpdfaa awmnlgivqn slkrfeaaeq syrtaikhrr kypdcyynlg
      481 rlyadlnrhv dalnawrnat vlkpehslaw nnmiilldnt gnlaqaeavg realelipnd
      541 hslmfslanv lgksqkykes ealflkaika npnaasyhgn lavlyhrwgh ldlakkhyei
      601 slqldptasg tkenygllrr klelmqkkav
//
LOCUS       NP_001290068             764 aa            linear   PRI 28-DEC-2022
DEFINITION  E3 ubiquitin-protein ligase PDZRN3 isoform 2 [Homo sapiens].
ACCESSION   NP_001290068
VERSION     NP_001290068.1
DBSOURCE    REFSEQ: accession NM_001303139.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 764)
  AUTHORS   Otsuka Y, Furihata T, Nakagawa K, Ohno Y, Reien Y, Ouchi M,
            Wakashin H, Tsuruoka S and Anzai N.
  TITLE     Sodium-coupled monocarboxylate transporter 1 interacts with the
            RING finger- and PDZ domain-containing protein PDZRN3
  JOURNAL   J Physiol Sci 69 (4), 635-642 (2019)
   PUBMED   31098988
  REMARK    GeneRIF: PDZRN3 may regulate SMCT1 function by interfering with the
            interaction between SMCT1 and PDZK1.
REFERENCE   2  (residues 1 to 764)
  AUTHORS   Thomas M and Banks L.
  TITLE     PDZRN3/LNX3 is a novel target of human papillomavirus type 16
            (HPV-16) and HPV-18 E6
  JOURNAL   J Virol 89 (2), 1439-1444 (2015)
   PUBMED   25355882
  REMARK    GeneRIF: Authors show that HPV-16 and HPV-18 E6 can target PDZRN3
            in a PDZ- and proteasome-dependent manner and provide a connection
            between the papillomavirus life cycle and differentiation-related
            STAT signaling.
REFERENCE   3  (residues 1 to 764)
  AUTHORS   Sewduth RN, Jaspard-Vinassa B, Peghaire C, Guillabert A, Franzl N,
            Larrieu-Lahargue F, Moreau C, Fruttiger M, Dufourcq P, Couffinhal T
            and Duplaa C.
  TITLE     The ubiquitin ligase PDZRN3 is required for vascular morphogenesis
            through Wnt/planar cell polarity signalling
  JOURNAL   Nat Commun 5, 4832 (2014)
   PUBMED   25198863
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 764)
  AUTHORS   Han JY, Shin ES, Lee YS, Ghang HY, Kim SY, Hwang JA, Kim JY and Lee
            JS.
  TITLE     A genome-wide association study for irinotecan-related severe
            toxicities in patients with advanced non-small-cell lung cancer
  JOURNAL   Pharmacogenomics J 13 (5), 417-422 (2013)
   PUBMED   22664479
REFERENCE   5  (residues 1 to 764)
  AUTHORS   Honda T, Ishii A and Inui M.
  TITLE     Regulation of adipocyte differentiation of 3T3-L1 cells by PDZRN3
  JOURNAL   Am J Physiol Cell Physiol 304 (11), C1091-C1097 (2013)
   PUBMED   23576576
REFERENCE   6  (residues 1 to 764)
  AUTHORS   Murea M, Lu L, Ma L, Hicks PJ, Divers J, McDonough CW, Langefeld
            CD, Bowden DW and Freedman BI.
  TITLE     Genome-wide association scan for survival on dialysis in
            African-Americans with type 2 diabetes
  JOURNAL   Am J Nephrol 33 (6), 502-509 (2011)
   PUBMED   21546767
REFERENCE   7  (residues 1 to 764)
  AUTHORS   Honda T, Yamamoto H, Ishii A and Inui M.
  TITLE     PDZRN3 negatively regulates BMP-2-induced osteoblast
            differentiation through inhibition of Wnt signaling
  JOURNAL   Mol Biol Cell 21 (18), 3269-3277 (2010)
   PUBMED   20668165
  REMARK    GeneRIF: These results indicate that PDZRN3 plays an important role
            in negative feedback control of BMP-2-induced osteoblast
            differentiation in C2C12 cells through inhibition of
            Wnt3a-beta-catenin signaling.
REFERENCE   8  (residues 1 to 764)
  AUTHORS   Ko JA, Kimura Y, Matsuura K, Yamamoto H, Gondo T and Inui M.
  TITLE     PDZRN3 (LNX3, SEMCAP3) is required for the differentiation of C2C12
            myoblasts into myotubes
  JOURNAL   J Cell Sci 119 (Pt 24), 5106-5113 (2006)
   PUBMED   17118964
REFERENCE   9  (residues 1 to 764)
  AUTHORS   Meyer G, Varoqueaux F, Neeb A, Oschlies M and Brose N.
  TITLE     The complexity of PDZ domain-mediated interactions at glutamatergic
            synapses: a case study on neuroligin
  JOURNAL   Neuropharmacology 47 (5), 724-733 (2004)
   PUBMED   15458844
REFERENCE   10 (residues 1 to 764)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of PDZRN3 and PDZRN4 genes in
            silico
  JOURNAL   Int J Mol Med 13 (4), 607-613 (2004)
   PUBMED   15010864
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC342349.1, AK307818.1,
            AB029018.1 and AW661852.1.
            
            Summary: This gene encodes a member of the LNX (Ligand of Numb
            Protein-X) family of RING-type ubiquitin E3 ligases. This protein
            may function in vascular morphogenesis and the differentiation of
            adipocytes, osteoblasts and myoblasts. This protein may be targeted
            for degradation by the human papilloma virus E6 protein.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Dec 2014].
            
            Transcript Variant: This variant (2) lacks several exons and uses
            an alternate 5' terminal exon, compared to variant 1. These
            differences result in a distinct 5' UTR and cause translation
            initiation at an alternate downstream start codon, compared to
            variant 1. The resulting protein (isoform 2) has a distinct
            N-terminus and is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK307818.1, SRR1660807.256498.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..764
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p13"
     Protein         1..764
                     /product="E3 ubiquitin-protein ligase PDZRN3 isoform 2"
                     /EC_number="2.3.2.27"
                     /note="likely ortholog of mouse semaF cytoplasmic domain
                     associated protein 3; E3 ubiquitin-protein ligase PDZRN3;
                     ligand of Numb protein X 3; semaphorin cytoplasmic
                     domain-associated protein 3; RING-type E3 ubiquitin
                     transferase PDZRN3"
                     /calculated_mol_wt=86794
     Region          <4..34
                     /region_name="PDZ"
                     /note="PDZ domain, also called DHR (Dlg homologous region)
                     or GLGF (after a conserved sequence motif). Many PDZ
                     domains bind C-terminal polypeptides, though binding to
                     internal (non-C-terminal) polypeptides and even to lipids
                     has been demonstrated; cl00117"
                     /db_xref="CDD:444702"
     Region          118..186
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(128..131,133,182..183,186)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     CDS             1..764
                     /gene="PDZRN3"
                     /gene_synonym="LNX3; SEMACAP3; SEMCAP3"
                     /coded_by="NM_001303139.2:354..2648"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:23024"
                     /db_xref="HGNC:HGNC:17704"
                     /db_xref="MIM:609729"
ORIGIN      
        1 minqvngrdl srathdqave afktakepiv vqvlrrtprt kmftppsesq lvdtgtqtdi
       61 tfehimaltk msspsppvld pyllpeehps aheyydpndy igdihqemdr eeleleevdl
      121 yrmnsqdklg ltvcyrtdde ddigiyisei dpnsiaakdg riregdriiq ingievqnre
      181 eavalltsee nknfslliar pelqldegwm dddrndfldd lhmdmleeqh hqamqftasv
      241 lqqkkhdedg gttdtatils nqhekdsgvg rtdestrnde sseqenngdd atassnplag
      301 qrkltcsqdt lgsgdlpfsn esfisadctd adylgipvde cerfrellel kcqvksatpy
      361 glyypsgpld agksdpesvd kelellneel rsieleclsi vrahkmqqlk eqyreswmlh
      421 nsgfrnynts idvrrhelsd itelpeksdk dsssayntge scrstpltle ispdnslrra
      481 aegiscpsse gavgtteayg pasknllsit edpevgtpty spslkeldpn qpleskerra
      541 sdgsrsptps qklgsaylps yhhspykhah ipahaqhyqs ymqliqqksa veyaqsqmsl
      601 vsmckdlssp tpseprmewk vkirsdgtry itkrpvrdrl lreralkire ersgmttddd
      661 avsemkmgry wskeerkqhl vkakeqrrrr efmmqsrldc lkeqqaaddr kemnilelsh
      721 kkmmkkrnkk ifdnwmtiqe llthgtkspd gtrvynsfls vttv
//
LOCUS       NP_001116309             166 aa            linear   PRI 30-DEC-2022
DEFINITION  sugar transporter SWEET1 isoform b [Homo sapiens].
ACCESSION   NP_001116309
VERSION     NP_001116309.1
DBSOURCE    REFSEQ: accession NM_001122837.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 166)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 166)
  AUTHORS   Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA,
            Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J,
            Jugurnauth-Little S, Dadaev T, Neal DE, Hamdy FC, Donovan JL, Muir
            K, Giles GG, Severi G, Wiklund F, Gronberg H, Haiman CA, Schumacher
            F, Henderson BE, Le Marchand L, Lindstrom S, Kraft P, Hunter DJ,
            Gapstur S, Chanock SJ, Berndt SI, Albanes D, Andriole G, Schleutker
            J, Weischer M, Canzian F, Riboli E, Key TJ, Travis RC, Campa D,
            Ingles SA, John EM, Hayes RB, Pharoah PD, Pashayan N, Khaw KT,
            Stanford JL, Ostrander EA, Signorello LB, Thibodeau SN, Schaid D,
            Maier C, Vogel W, Kibel AS, Cybulski C, Lubinski J, Cannon-Albright
            L, Brenner H, Park JY, Kaneva R, Batra J, Spurdle AB, Clements JA,
            Teixeira MR, Dicks E, Lee A, Dunning AM, Baynes C, Conroy D,
            Maranian MJ, Ahmed S, Govindasami K, Guy M, Wilkinson RA, Sawyer
            EJ, Morgan A, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker
            CC, Van As NJ, Woodhouse CJ, Thompson A, Dudderidge T, Ogden C,
            Cooper CS, Lophatananon A, Cox A, Southey MC, Hopper JL, English
            DR, Aly M, Adolfsson J, Xu J, Zheng SL, Yeager M, Kaaks R, Diver
            WR, Gaudet MM, Stern MC, Corral R, Joshi AD, Shahabi A, Wahlfors T,
            Tammela TL, Auvinen A, Virtamo J, Klarskov P, Nordestgaard BG,
            Roder MA, Nielsen SF, Bojesen SE, Siddiq A, Fitzgerald LM, Kolb S,
            Kwon EM, Karyadi DM, Blot WJ, Zheng W, Cai Q, McDonnell SK,
            Rinckleb AE, Drake B, Colditz G, Wokolorczyk D, Stephenson RA,
            Teerlink C, Muller H, Rothenbacher D, Sellers TA, Lin HY, Slavov C,
            Mitev V, Lose F, Srinivasan S, Maia S, Paulo P, Lange E, Cooney KA,
            Antoniou AC, Vincent D, Bacot F, Tessier DC, Kote-Jarai Z and
            Easton DF.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391e3912 (2013)
   PUBMED   23535732
REFERENCE   3  (residues 1 to 166)
  AUTHORS   Pankratz N, Beecham GW, DeStefano AL, Dawson TM, Doheny KF, Factor
            SA, Hamza TH, Hung AY, Hyman BT, Ivinson AJ, Krainc D, Latourelle
            JC, Clark LN, Marder K, Martin ER, Mayeux R, Ross OA, Scherzer CR,
            Simon DK, Tanner C, Vance JM, Wszolek ZK, Zabetian CP, Myers RH,
            Payami H, Scott WK and Foroud T.
  CONSRTM   PD GWAS Consortium
  TITLE     Meta-analysis of Parkinson's disease: identification of a novel
            locus, RIT2
  JOURNAL   Ann Neurol 71 (3), 370-384 (2012)
   PUBMED   22451204
REFERENCE   4  (residues 1 to 166)
  AUTHORS   Chen LQ, Hou BH, Lalonde S, Takanaga H, Hartung ML, Qu XQ, Guo WJ,
            Kim JG, Underwood W, Chaudhuri B, Chermak D, Antony G, White FF,
            Somerville SC, Mudgett MB and Frommer WB.
  TITLE     Sugar transporters for intercellular exchange and nutrition of
            pathogens
  JOURNAL   Nature 468 (7323), 527-532 (2010)
   PUBMED   21107422
REFERENCE   5  (residues 1 to 166)
  AUTHORS   Tagoh H, Kishi H and Muraguchi A.
  TITLE     Molecular cloning and characterization of a novel stromal
            cell-derived cDNA encoding a protein that facilitates gene
            activation of recombination activating gene (RAG)-1 in human
            lymphoid progenitors
  JOURNAL   Biochem Biophys Res Commun 221 (3), 744-749 (1996)
   PUBMED   8630032
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK289551.1 and BC005943.1.
            
            Transcript Variant: This variant (2) lacks an alternate coding exon
            compared to variant 1, that causes a frameshift. The resulting
            isoform (b) has a shorter and distinct N-terminus compared to
            isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BU164123.1, BC010869.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..166
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     Protein         1..166
                     /product="sugar transporter SWEET1 isoform b"
                     /note="recombination activating gene 1 activating protein
                     1; RZPDo834D038D; stromal cell protein; RAG1-activating
                     protein 1; probable sugar transporter RAG1AP1; sugar
                     transporter SWEET1; solute carrier family 50 (sugar
                     transporter), member 1; RP11-540D14.5; solute carrier
                     family 50 (sugar efflux transporter), member 1"
                     /calculated_mol_wt=18919
     Region          72..158
                     /region_name="MtN3_slv"
                     /note="Sugar efflux transporter for intercellular
                     exchange; pfam03083"
                     /db_xref="CDD:397278"
     CDS             1..166
                     /gene="SLC50A1"
                     /gene_synonym="HsSWEET1; RAG1AP1; SCP; slv; SWEET1"
                     /coded_by="NM_001122837.2:102..602"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS44239.1"
                     /db_xref="GeneID:55974"
                     /db_xref="HGNC:HGNC:30657"
                     /db_xref="MIM:613683"
ORIGIN      
        1 mrglhpwhvl rrplgpqaha ndpecgqrpv palshhgsqr vvllqtatll gvlllgygyf
       61 wllvpnpear lqqlglfcsv ftismylspl adlakviqtk stqclsyplt iatlltsasw
      121 clygfrlrdp yimvsnfpgi vtsfirfwlf wkypqeqdrn ywllqt
//
LOCUS       NP_001309858             577 aa            linear   PRI 30-DEC-2022
DEFINITION  double-stranded RNA-binding protein Staufen homolog 1 isoform b
            [Homo sapiens].
ACCESSION   NP_001309858
VERSION     NP_001309858.1
DBSOURCE    REFSEQ: accession NM_001322929.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 577)
  AUTHORS   Gonzalez Quesada Y and DesGroseillers L.
  TITLE     A Degradation Motif in STAU1 Defines a Novel Family of Proteins
            Involved in Inflammation
  JOURNAL   Int J Mol Sci 23 (19), 11588 (2022)
   PUBMED   36232890
  REMARK    GeneRIF: A Degradation Motif in STAU1 Defines a Novel Family of
            Proteins Involved in Inflammation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 577)
  AUTHORS   Gonzalez Quesada Y, Bonnet-Magnaval F and DesGroseillers L.
  TITLE     Phosphomimicry on STAU1 Serine 20 Impairs STAU1 Posttranscriptional
            Functions and Induces Apoptosis in Human Transformed Cells
  JOURNAL   Int J Mol Sci 23 (13), 7344 (2022)
   PUBMED   35806349
  REMARK    GeneRIF: Phosphomimicry on STAU1 Serine 20 Impairs STAU1
            Posttranscriptional Functions and Induces Apoptosis in Human
            Transformed Cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 577)
  AUTHORS   Ning H, Zhang T, Zhou X, Liu L, Shang C, Qi R and Ma T.
  TITLE     PART1 destabilized by NOVA2 regulates blood-brain barrier
            permeability in endothelial cells via STAU1-mediated mRNA
            degradation
  JOURNAL   Gene 815, 146164 (2022)
   PUBMED   34990795
  REMARK    GeneRIF: PART1 destabilized by NOVA2 regulates blood-brain barrier
            permeability in endothelial cells via STAU1-mediated mRNA
            degradation.
REFERENCE   4  (residues 1 to 577)
  AUTHORS   Bonnet-Magnaval F, Diallo LH, Brunchault V, Laugero N, Morfoisse F,
            David F, Roussel E, Nougue M, Zamora A, Marchaud E, Tatin F, Prats
            AC, Garmy-Susini B, DesGroseillers L and Lacazette E.
  TITLE     High Level of Staufen1 Expression Confers Longer Recurrence Free
            Survival to Non-Small Cell Lung Cancer Patients by Promoting THBS1
            mRNA Degradation
  JOURNAL   Int J Mol Sci 23 (1), 215 (2021)
   PUBMED   35008641
  REMARK    GeneRIF: High Level of Staufen1 Expression Confers Longer
            Recurrence Free Survival to Non-Small Cell Lung Cancer Patients by
            Promoting THBS1 mRNA Degradation.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 577)
  AUTHORS   Almasi S and Jasmin BJ.
  TITLE     The multifunctional RNA-binding protein Staufen1: an emerging
            regulator of oncogenesis through its various roles in key cellular
            events
  JOURNAL   Cell Mol Life Sci 78 (23), 7145-7160 (2021)
   PUBMED   34633481
  REMARK    GeneRIF: The multifunctional RNA-binding protein Staufen1: an
            emerging regulator of oncogenesis through its various roles in key
            cellular events.
            Review article
REFERENCE   6  (residues 1 to 577)
  AUTHORS   Kiebler MA and DesGroseillers L.
  TITLE     Molecular insights into mRNA transport and local translation in the
            mammalian nervous system
  JOURNAL   Neuron 25 (1), 19-28 (2000)
   PUBMED   10707969
  REMARK    Review article
REFERENCE   7  (residues 1 to 577)
  AUTHORS   Falcon AM, Fortes P, Marion RM, Beloso A and Ortin J.
  TITLE     Interaction of influenza virus NS1 protein and the human homologue
            of Staufen in vivo and in vitro
  JOURNAL   Nucleic Acids Res 27 (11), 2241-2247 (1999)
   PUBMED   10325410
REFERENCE   8  (residues 1 to 577)
  AUTHORS   Wickham L, Duchaine T, Luo M, Nabi IR and DesGroseillers L.
  TITLE     Mammalian staufen is a double-stranded-RNA- and tubulin-binding
            protein which localizes to the rough endoplasmic reticulum
  JOURNAL   Mol Cell Biol 19 (3), 2220-2230 (1999)
   PUBMED   10022909
REFERENCE   9  (residues 1 to 577)
  AUTHORS   Marion RM, Fortes P, Beloso A, Dotti C and Ortin J.
  TITLE     A human sequence homologue of Staufen is an RNA-binding protein
            that is associated with polysomes and localizes to the rough
            endoplasmic reticulum
  JOURNAL   Mol Cell Biol 19 (3), 2212-2219 (1999)
   PUBMED   10022908
REFERENCE   10 (residues 1 to 577)
  AUTHORS   DesGroseillers L and Lemieux N.
  TITLE     Localization of a human double-stranded RNA-binding protein gene
            (STAU) to band 20q13.1 by fluorescence in situ hybridization
  JOURNAL   Genomics 36 (3), 527-529 (1996)
   PUBMED   8884277
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133174.15 and BE439382.1.
            
            Summary: Staufen is a member of the family of double-stranded RNA
            (dsRNA)-binding proteins involved in the transport and/or
            localization of mRNAs to different subcellular compartments and/or
            organelles. These proteins are characterized by the presence of
            multiple dsRNA-binding domains which are required to bind RNAs
            having double-stranded secondary structures. The human homologue of
            staufen encoded by STAU, in addition contains a microtubule-
            binding domain similar to that of microtubule-associated protein
            1B, and binds tubulin. The STAU gene product has been shown to be
            present in the cytoplasm in association with the rough endoplasmic
            reticulum (RER), implicating this protein in the transport of mRNA
            via the microtubule network to the RER, the site of translation.
            [provided by RefSeq, Apr 2020].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.527651.1,
                                           SRR18074967.2642665.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..577
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.13"
     Protein         1..577
                     /product="double-stranded RNA-binding protein Staufen
                     homolog 1 isoform b"
                     /note="staufen, RNA binding protein, homolog 1; protein
                     phosphatase 1, regulatory subunit 150"
                     /calculated_mol_wt=63051
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (O95793.2)"
     Region          34..55
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95793.2)"
     Region          82..146
                     /region_name="DSRM_STAU1_rpt2"
                     /note="second double-stranded RNA binding motif of
                     double-stranded RNA-binding protein Staufen homolog 1
                     (Staufen 1) and similar proteins; cd19881"
                     /db_xref="CDD:380710"
     Site            order(100,103..104,106..107,121..125,145)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:380710"
     Site            108
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (O95793.2)"
     Site            115
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (O95793.2)"
     Site            176
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95793.2)"
     Region          183..249
                     /region_name="DSRM_STAU1_rpt3"
                     /note="third double-stranded RNA binding motif of
                     double-stranded RNA-binding protein Staufen homolog 1
                     (Staufen 1) and similar proteins; cd19883"
                     /db_xref="CDD:380712"
     Site            order(183,188,191..192,194..195,209..214,234,238)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:380712"
     Region          276..361
                     /region_name="DSRM_STAU1_rpt4"
                     /note="fourth double-stranded RNA binding motif of
                     double-stranded RNA-binding protein Staufen homolog 1
                     (Staufen 1) and similar proteins; cd19885"
                     /db_xref="CDD:380714"
     Site            278
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95793.2)"
     Site            order(290,293..294,296..297,312..317,337,341)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:380714"
     Region          360..397
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95793.2)"
     Site            390
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95793.2)"
     Region          448..557
                     /region_name="Staufen_C"
                     /note="Staufen C-terminal domain; pfam16482"
                     /db_xref="CDD:374568"
     CDS             1..577
                     /gene="STAU1"
                     /gene_synonym="PPP1R150; STAU"
                     /coded_by="NM_001322929.2:502..2235"
                     /note="isoform b is encoded by transcript variant T10"
                     /db_xref="CCDS:CCDS13414.1"
                     /db_xref="GeneID:6780"
                     /db_xref="HGNC:HGNC:11370"
                     /db_xref="MIM:601716"
ORIGIN      
        1 msqvqvqvqn psaalsgsqi lnknqsllsq plmsipstts slpsenagrp iqnsalpsas
       61 itstsaaaes itptvelnal cmklgkkpmy kpvdpysrmq stynynmrgg ayppryfypf
      121 pvppllyqve lsvggqqfng kgktrqaakh daaakalril qneplperle vngreseeen
      181 lnkseisqvf eialkrnlpv nfevaresgp phmknfvtkv svgefvgege gkskkiskkn
      241 aaiavleelk klpplpaver vkprikkktk pivkpqtspe ygqginpisr laqiqqakke
      301 kepeytllte rglprrrefv mqvkvgnhta egtgtnkkva krnaaenmle ilgfkvpqaq
      361 ptkpalksee ktpikkpgdg rkvtffepgs gdengtsnke defrmpylsh qqlpagilpm
      421 vpevaqavgv sqghhtkdft raapnpakat vtamiarell yggtsptaet ilknnissgh
      481 vphgpltrps eqldylsrvq gfqveykdfp knnknefvsl incssqppli shgigkdves
      541 chdmaalnil kllseldqqs temprtgngp msvcgrc
//
LOCUS       NP_954636                466 aa            linear   PRI 31-DEC-2022
DEFINITION  clusterin-like protein 1 precursor [Homo sapiens].
ACCESSION   NP_954636
VERSION     NP_954636.1
DBSOURCE    REFSEQ: accession NM_199167.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 466)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   2  (residues 1 to 466)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 466)
  AUTHORS   Roni V, Carpio R and Wissinger B.
  TITLE     Mapping of transcription start sites of human retina expressed
            genes
  JOURNAL   BMC Genomics 8, 42 (2007)
   PUBMED   17286855
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 466)
  AUTHORS   Zhang Q, Beltran WA, Mao Z, Li K, Johnson JL, Acland GM and Aguirre
            GD.
  TITLE     Comparative analysis and expression of CLUL1, a cone
            photoreceptor-specific gene
  JOURNAL   Invest Ophthalmol Vis Sci 44 (10), 4542-4549 (2003)
   PUBMED   14507903
REFERENCE   5  (residues 1 to 466)
  AUTHORS   Zhang Q, Ray K, Acland GM, Czarnecki JM and Aguirre GD.
  TITLE     Molecular cloning, characterization and expression of a novel
            retinal clusterin-like protein cDNA
  JOURNAL   Gene 243 (1-2), 151-160 (2000)
   PUBMED   10675623
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001178.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: D63813.1, SRR14038193.2636438.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..466
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.32"
     Protein         1..466
                     /product="clusterin-like protein 1 precursor"
                     /note="clusterin-like protein 1; retinal-specific
                     clusterin-like protein; clusterin-like 1 (retinal);
                     retinal clusterin-like protein"
                     /calculated_mol_wt=51877
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2356
     Region          33..463
                     /region_name="Clusterin"
                     /note="pfam01093"
                     /db_xref="CDD:426044"
     Site            196
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15846.1)"
     Site            257
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15846.1)"
     Site            311
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15846.1)"
     Site            351
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15846.1)"
     Site            412
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15846.1)"
     Site            431
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15846.1)"
     CDS             1..466
                     /gene="CLUL1"
                     /gene_synonym="RA337M"
                     /coded_by="NM_199167.2:74..1474"
                     /db_xref="CCDS:CCDS42405.1"
                     /db_xref="GeneID:27098"
                     /db_xref="HGNC:HGNC:2096"
                     /db_xref="MIM:616990"
ORIGIN      
        1 mkppllvfiv cllwlkdshc aptwkdktai senlksfsev geidadeevk kaltgikqmk
       61 immerkekeh tnlmstlkkc reekqealkl lnevqehlee eerlcresla dswgecrscl
      121 enncmriytt cqpswssvkn kierffrkiy qflfpfhedn ekdlpisekl ieedaqltqm
      181 edvfsqltvd vnslfnrsfn vfrqmqqefd qtfqshfisd tdltepyffp afskepmtka
      241 dleqcwdipn ffqlfcnfsv siyesvseti tkmlkaiedl pkqdkapdhg gliskmlpgq
      301 drglcgeldq nlsrcfkfhe kcqkcqahls edcpdvpalh teldeairlv nvsnqqygqi
      361 lqmtrkhled taylvekmrg qfgwvselan qapeteiifn siqvvprihe gniskqdetm
      421 mtdlsilpss nftlkiplee saessnfigy vvakalqhfk ehfktw
//
LOCUS       NP_001397867             525 aa            linear   PRI 01-JAN-2023
DEFINITION  heterogeneous nuclear ribonucleoprotein Q isoform 8 [Homo sapiens].
ACCESSION   NP_001397867 XP_005248693
VERSION     NP_001397867.1
DBSOURCE    REFSEQ: accession NM_001410938.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 525)
  AUTHORS   Semino F, Schroter J, Willemsen MH, Bast T, Biskup S, Beck-Woedl S,
            Brennenstuhl H, Schaaf CP, Kolker S, Hoffmann GF, Haack TB and
            Syrbe S.
  TITLE     Further evidence for de novo variants in SYNCRIP as the cause of a
            neurodevelopmental disorder
  JOURNAL   Hum Mutat 42 (9), 1094-1100 (2021)
   PUBMED   34157790
  REMARK    GeneRIF: Further evidence for de novo variants in SYNCRIP as the
            cause of a neurodevelopmental disorder.
REFERENCE   2  (residues 1 to 525)
  AUTHORS   Zhang P, Cao M, Zhang Y, Xu L, Meng F, Wu X, Xia T, Chen Q, Shi G,
            Wu P, Chen L, Lu Z, Yin J, Cai B, Cao S, Miao Y and Jiang K.
  TITLE     A novel antisense lncRNA NT5E promotes progression by modulating
            the expression of SYNCRIP and predicts a poor prognosis in
            pancreatic cancer
  JOURNAL   J Cell Mol Med 24 (18), 10898-10912 (2020)
   PUBMED   32770626
  REMARK    GeneRIF: A novel antisense lncRNA NT5E promotes progression by
            modulating the expression of SYNCRIP and predicts a poor prognosis
            in pancreatic cancer.
REFERENCE   3  (residues 1 to 525)
  AUTHORS   Chen Y, Chan J, Chen W, Li J, Sun M, Kannan GS, Mok YK, Yuan YA and
            Jobichen C.
  TITLE     SYNCRIP, a new player in pri-let-7a processing
  JOURNAL   RNA 26 (3), 290-305 (2020)
   PUBMED   31907208
  REMARK    GeneRIF: the terminal loop of pri-let-7a was shown to be the main
            contributor for its interaction with SYNCRIP. Functional studies
            demonstrated that the SYNCRIP RRM2-3 domain can promote the
            processing of pri-let-7a
REFERENCE   4  (residues 1 to 525)
  AUTHORS   He Y, Kang J, Lim L and Song J.
  TITLE     ATP binds nucleic-acid-binding domains beyond RRM fold
  JOURNAL   Biochem Biophys Res Commun 522 (4), 826-831 (2020)
   PUBMED   31791586
  REMARK    GeneRIF: ATP binds nucleic-acid-binding domains beyond RRM fold.
REFERENCE   5  (residues 1 to 525)
  AUTHORS   Mourelatos Z, Abel L, Yong J, Kataoka N and Dreyfuss G.
  TITLE     SMN interacts with a novel family of hnRNP and spliceosomal
            proteins
  JOURNAL   EMBO J 20 (19), 5443-5452 (2001)
   PUBMED   11574476
REFERENCE   6  (residues 1 to 525)
  AUTHORS   Lau PP, Chang BH and Chan L.
  TITLE     Two-hybrid cloning identifies an RNA-binding protein, GRY-RBP, as a
            component of apobec-1 editosome
  JOURNAL   Biochem Biophys Res Commun 282 (4), 977-983 (2001)
   PUBMED   11352648
REFERENCE   7  (residues 1 to 525)
  AUTHORS   Blanc V, Navaratnam N, Henderson JO, Anant S, Kennedy S, Jarmuz A,
            Scott J and Davidson NO.
  TITLE     Identification of GRY-RBP as an apolipoprotein B RNA-binding
            protein that interacts with both apobec-1 and apobec-1
            complementation factor to modulate C to U editing
  JOURNAL   J Biol Chem 276 (13), 10272-10283 (2001)
   PUBMED   11134005
REFERENCE   8  (residues 1 to 525)
  AUTHORS   Grosset C, Chen CY, Xu N, Sonenberg N, Jacquemin-Sablon H and Shyu
            AB.
  TITLE     A mechanism for translationally coupled mRNA turnover: interaction
            between the poly(A) tail and a c-fos RNA coding determinant via a
            protein complex
  JOURNAL   Cell 103 (1), 29-40 (2000)
   PUBMED   11051545
REFERENCE   9  (residues 1 to 525)
  AUTHORS   Mizutani A, Fukuda M, Ibata K, Shiraishi Y and Mikoshiba K.
  TITLE     SYNCRIP, a cytoplasmic counterpart of heterogeneous nuclear
            ribonucleoprotein R, interacts with ubiquitous synaptotagmin
            isoforms
  JOURNAL   J Biol Chem 275 (13), 9823-9831 (2000)
   PUBMED   10734137
REFERENCE   10 (residues 1 to 525)
  AUTHORS   Harris CE, Boden RA and Astell CR.
  TITLE     A novel heterogeneous nuclear ribonucleoprotein-like protein
            interacts with NS1 of the minute virus of mice
  JOURNAL   J Virol 73 (1), 72-80 (1999)
   PUBMED   9847309
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136082.22.
            On Aug 18, 2022 this sequence version replaced XP_005248693.1.
            
            Summary: This gene encodes a member of the cellular heterogeneous
            nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding
            proteins that complex with heterogeneous nuclear RNA (hnRNA) and
            regulate alternative splicing, polyadenylation, and other aspects
            of mRNA metabolism and transport. The encoded protein plays a role
            in multiple aspects of mRNA maturation and is associated with
            several multiprotein complexes including the apoB RNA
            editing-complex and survival of motor neurons (SMN) complex.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene, and a pseudogene of this
            gene is located on the short arm of chromosome 20. [provided by
            RefSeq, Dec 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.246845.1,
                                           SRR14372079.2852059.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..525
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.3"
     Protein         1..525
                     /product="heterogeneous nuclear ribonucleoprotein Q
                     isoform 8"
                     /note="NS1-associated protein 1; heterogeneous nuclear
                     ribonucleoprotein Q; glycine- and tyrosine-rich
                     RNA-binding protein"
                     /calculated_mol_wt=58862
     Region          5..517
                     /region_name="hnRNP-R-Q"
                     /note="heterogeneous nuclear ribonucleoprotein R, Q
                     family; TIGR01648"
                     /db_xref="CDD:273732"
     CDS             1..525
                     /gene="SYNCRIP"
                     /gene_synonym="GRY-RBP; GRYRBP; hnRNP-Q; HNRNPQ; HNRPQ1;
                     NSAP1; PP68"
                     /coded_by="NM_001410938.1:237..1814"
                     /note="isoform 8 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS93965.1"
                     /db_xref="GeneID:10492"
                     /db_xref="HGNC:HGNC:16918"
                     /db_xref="MIM:616686"
ORIGIN      
        1 mktyrqrekq gtkvadsskg pdeakikall ertgytldvt tgqrkyggpp pdsvysgqqp
       61 svgteifvgk iprdlfedel vplfekagpi wdlrlmmdpl tglnrgyafv tfctkeaaqe
      121 avklynnhei rsgkhigvci svannrlfvg sipksktkeq ileefskvte gltdvilyhq
      181 pddkkknrgf cfleyedhkt aaqarrrlms gkvkvwgnvg tvewadpied pdpevmakvk
      241 vlfvrnlant vteeilekaf sqfgklervk klkdyafihf derdgavkam eemngkdleg
      301 enieivfakp pdqkrkerka qrqaaknqmy ddyyyygpph mppptrgrgr ggrggygypp
      361 dyygyedyyd yygydyhnyr ggyedpyygy edfqvgargr ggrgargaap srgrgaappr
      421 gragysqrgg pgsargvrga rggaqqqrgr gvrgarggrg gnvggkrkad gynqpdskrr
      481 qtnnqnwgsq piaqqplqgg dhsgnygyks enqefyqdtf gqqwk
//
LOCUS       NP_001124000            1321 aa            linear   PRI 12-MAR-2023
DEFINITION  C-Jun-amino-terminal kinase-interacting protein 4 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001124000
VERSION     NP_001124000.1
DBSOURCE    REFSEQ: accession NM_001130528.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1321)
  AUTHORS   Bassey-Archibong BI, Rajendra Chokshi C, Aghaei N, Kieliszek AM,
            Tatari N, McKenna D, Singh M, Kalpana Subapanditha M, Parmar A,
            Mobilio D, Savage N, Lam F, Tokar T, Provias J, Lu Y, Chafe SC,
            Swanton C, Hynds RE, Venugopal C and Singh SK.
  TITLE     An HLA-G/SPAG9/STAT3 axis promotes brain metastases
  JOURNAL   Proc Natl Acad Sci U S A 120 (8), e2205247120 (2023)
   PUBMED   36780531
  REMARK    GeneRIF: An HLA-G/SPAG9/STAT3 axis promotes brain metastases.
REFERENCE   2  (residues 1 to 1321)
  AUTHORS   Ramadan RA, Morsy H, Samir M, Shamseya M, Shalaby M and El-Attar
            EA.
  TITLE     Significance of cancer testis-associated antigens (SPAG9 and
            FBXO39) in colon cancer
  JOURNAL   Indian J Cancer 59 (3), 394-401 (2022)
   PUBMED   34380828
  REMARK    GeneRIF: Significance of cancer testis-associated antigens (SPAG9
            and FBXO39) in colon cancer.
REFERENCE   3  (residues 1 to 1321)
  AUTHORS   Del Sarto J, Gerlt V, Friedrich ME, Anhlan D, Wixler V, Teixeira
            MM, Boergeling Y and Ludwig S.
  TITLE     Phosphorylation of JIP4 at S730 Presents Antiviral Properties
            against Influenza A Virus Infection
  JOURNAL   J Virol 95 (20), e0067221 (2021)
   PUBMED   34319782
  REMARK    GeneRIF: Phosphorylation of JIP4 at S730 Presents Antiviral
            Properties against Influenza A Virus Infection.
REFERENCE   4  (residues 1 to 1321)
  AUTHORS   Gowrishankar S, Lyons L, Rafiq NM, Roczniak-Ferguson A, De Camilli
            P and Ferguson SM.
  TITLE     Overlapping roles of JIP3 and JIP4 in promoting axonal transport of
            lysosomes in human iPSC-derived neurons
  JOURNAL   Mol Biol Cell 32 (11), 1094-1103 (2021)
   PUBMED   33788575
  REMARK    GeneRIF: Overlapping roles of JIP3 and JIP4 in promoting axonal
            transport of lysosomes in human iPSC-derived neurons.
REFERENCE   5  (residues 1 to 1321)
  AUTHORS   Li W, Wang F, Shi J, Feng Q, Chen Y, Qi X, Wang C, Lu H, Lu Z, Jia
            X, Yan Q, Gao SJ and Lu C.
  TITLE     Sperm associated antigen 9 promotes oncogenic KSHV-encoded
            interferon regulatory factor-induced cellular transformation and
            angiogenesis by activating the JNK/VEGFA pathway
  JOURNAL   PLoS Pathog 16 (8), e1008730 (2020)
   PUBMED   32776977
  REMARK    GeneRIF: Sperm associated antigen 9 promotes oncogenic KSHV-encoded
            interferon regulatory factor-induced cellular transformation and
            angiogenesis by activating the JNK/VEGFA pathway.
            Erratum:[PLoS Pathog. 2022 Jan 7;18(1):e1010232. PMID: 34995339]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1321)
  AUTHORS   Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G,
            Croughton K, Cruciat C, Eberhard D, Gagneur J, Ghidelli S, Hopf C,
            Huhse B, Mangano R, Michon AM, Schirle M, Schlegl J, Schwab M,
            Stein MA, Bauer A, Casari G, Drewes G, Gavin AC, Jackson DB,
            Joberty G, Neubauer G, Rick J, Kuster B and Superti-Furga G.
  TITLE     A physical and functional map of the human TNF-alpha/NF-kappa B
            signal transduction pathway
  JOURNAL   Nat Cell Biol 6 (2), 97-105 (2004)
   PUBMED   14743216
  REMARK    Erratum:[Nat Cell Biol. 2004 May;6(5):465]
REFERENCE   7  (residues 1 to 1321)
  AUTHORS   Yasuoka H, Ihn H, Medsger TA Jr, Hirakata M, Kawakami Y, Ikeda Y
            and Kuwana M.
  TITLE     A novel protein highly expressed in testis is overexpressed in
            systemic sclerosis fibroblasts and targeted by autoantibodies
  JOURNAL   J Immunol 171 (12), 6883-6890 (2003)
   PUBMED   14662895
  REMARK    GeneRIF: Testicular antigen PHET is an auutoantigen recognized by
            sera from systemic sclerosis (SSc) patients with extensive fibrotic
            changes; the autoantibody response to PHET is induced by ectopic
            overexpression of PHET in dermal fibroblasts of SSc patients.
REFERENCE   8  (residues 1 to 1321)
  AUTHORS   Lee CM, Onesime D, Reddy CD, Dhanasekaran N and Reddy EP.
  TITLE     JLP: A scaffolding protein that tethers JNK/p38MAPK signaling
            modules and transcription factors
  JOURNAL   Proc Natl Acad Sci U S A 99 (22), 14189-14194 (2002)
   PUBMED   12391307
REFERENCE   9  (residues 1 to 1321)
  AUTHORS   Ichijo H.
  TITLE     From receptors to stress-activated MAP kinases
  JOURNAL   Oncogene 18 (45), 6087-6093 (1999)
   PUBMED   10557099
  REMARK    Review article
REFERENCE   10 (residues 1 to 1321)
  AUTHORS   Shankar S, Mohapatra B and Suri A.
  TITLE     Cloning of a novel human testis mRNA specifically expressed in
            testicular haploid germ cells, having unique palindromic sequences
            and encoding a leucine zipper dimerization motif
  JOURNAL   Biochem Biophys Res Commun 243 (2), 561-565 (1998)
   PUBMED   9480848
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005839.1, AK091921.1,
            BC146755.1 and AC005920.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the cancer testis antigen
            gene family. The encoded protein functions as a scaffold protein
            that structurally organizes mitogen-activated protein kinases and
            mediates c-Jun-terminal kinase signaling. This protein also binds
            to kinesin-1 and may be involved in microtubule-based membrane
            transport. This protein may play a role in tumor growth and
            development. Alternate splicing results in multiple transcript
            variants. [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC153878.1, AB011088.3 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262013.12/ ENSP00000262013.7
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1321
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     Protein         1..1321
                     /product="C-Jun-amino-terminal kinase-interacting protein
                     4 isoform 1"
                     /note="sperm surface protein; cancer/testis antigen 89;
                     JNK/SAPK-associated protein; JNK interacting protein;
                     c-Jun NH2-terminal kinase-associated leucine zipper
                     protein; Max-binding protein; C-Jun-amino-terminal
                     kinase-interacting protein 4; proliferation-inducing gene
                     6; lung cancer oncogene 4; sunday driver 1; protein highly
                     expressed in testis; human lung cancer oncogene 6 protein;
                     mitogen-activated protein kinase 8-interacting protein 4"
                     /calculated_mol_wt=146075
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Region          22..>527
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          24..178
                     /region_name="Jnk-SapK_ap_N"
                     /note="JNK_SAPK-associated protein-1; pfam09744"
                     /db_xref="CDD:430795"
     Site            order(27,34..35,37,46..47,50,53..54,56..58,60..61,63..65,
                     67,75,78,81..82,85,90,92..93,96)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:271220"
     Site            109
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            183
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            185
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            194
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Region          203..292
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Site            203
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Site            217
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            238
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            251
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            265
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Site            268
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            272
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            292
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q58A65; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            311
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            329
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Site            332
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Site            347
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            348
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            365
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q58A65; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Region          406..>461
                     /region_name="JIP_LZII"
                     /note="JNK-interacting protein leucine zipper II;
                     pfam16471"
                     /db_xref="CDD:435358"
     Site            418
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Region          <449..>642
                     /region_name="DUF5401"
                     /note="Family of unknown function (DUF5401); pfam17380"
                     /db_xref="CDD:375164"
     Region          473..500
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Region          563..600
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Site            586
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            588
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            595
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            705
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            728
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            730
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            732
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Site            733
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Region          854..906
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Region          952..>1306
                     /region_name="WD40_2"
                     /note="WD40 repeated domain; pfam19056"
                     /db_xref="CDD:436927"
     Site            1188
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     Region          1239..1266
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60271.4)"
     Site            1264
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60271.4)"
     CDS             1..1321
                     /gene="SPAG9"
                     /gene_synonym="CT89; HLC-6; HLC4; HLC6; JIP-4; JIP4; JLP;
                     PHET; PIG6"
                     /coded_by="NM_001130528.3:213..4178"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS45740.1"
                     /db_xref="GeneID:9043"
                     /db_xref="HGNC:HGNC:14524"
                     /db_xref="MIM:605430"
ORIGIN      
        1 meledgvvyq eepggsgavm servsglags iyreferlig rydeevvkel mplvvavlen
       61 ldsvfaqdqe hqvelellrd dneqlitqye rekalrkhae ekfiefedsq eqekkdlqtr
      121 veslesqtrq lelkaknyad qisrleerea elkkeynalh qrhtemihny mehlertklh
      181 qlsgsdqles tahsrirker pislgifplp agdglltpda qkggetpgse qwkfqelsqp
      241 rshtslkvsn spepqkaveq edelsdvsqg gskattpast ansdvatipt dtplkeeneg
      301 fvkvtdapnk seiskhievq vaqetrnvst gsaeneekse vqaiiestpe ldmdkdlsgy
      361 kgsstptkgi enkafdrnte slfeelssag sgligdvdeg adllgmgrev enlilentql
      421 letknalniv kndliakvde ltcekdvlqg eleavkqakl kleeknrele eelrkaraea
      481 edarqkakdd ddsdiptaqr krftrvemar vlmernqyke rlmelqeavr wtemirasre
      541 npamqekkrs siwqffsrlf ssssnttkkp eppvnlkyna ptshvtpsvk krsstlsqlp
      601 gdkskafdfl seeteaslas rreqkreqyr qvkahvqked grvqafgwsl pqkykqvtng
      661 qgenkmknlp vpvylrplde kdtsmklwca vgvnlsggkt rdggsvvgas vfykdvagld
      721 tegskqrsas qssldkldqe lkeqqkelkn qeelsslvwi ctsthsatkv liidavqpgn
      781 ildsftvcns hvlciasvpg aretdypage dlsesgqvdk aslcgsmtsn ssaetdsllg
      841 gitvvgcsae gvtgaatsps tngaspvmdk ppemeaense vdenvptaee ateategnag
      901 saedtvdisq tgvytehvft dplgvqiped lspvyqssnd sdaykdqisv lpneqdlvre
      961 eaqkmssllp tmwlgaqngc lyvhssvaqw rkclhsiklk dsilsivhvk givlvaladg
     1021 tlaifhrgvd gqwdlsnyhl ldlgrphhsi rcmtvvhdkv wcgyrnkiyv vqpkamkiek
     1081 sfdahprkes qvrqlawvgd gvwvsirlds tlrlyhahty qhlqdvdiep yvskmlgtgk
     1141 lgfsfvrita lmvscnrlwv gtgngviisi pltetnktsg vpgnrpgsvi rvygdensdk
     1201 vtpgtfipyc smahaqlcfh ghrdavkffv avpgqvispq ssssgtdltg dkagpsaqep
     1261 gsqtplksml visggegyid frmgdegges ellgedlple psvtkaersh livwqvmygn
     1321 e
//
LOCUS       NP_005371                181 aa            linear   PRI 17-MAR-2023
DEFINITION  neuroblastoma suppressor of tumorigenicity 1 isoform 2 precursor
            [Homo sapiens].
ACCESSION   NP_005371
VERSION     NP_005371.2
DBSOURCE    REFSEQ: accession NM_005380.8
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 181)
  AUTHORS   Kobayashi H, Looker HC, Satake E, D'Addio F, Wilson JM, Saulnier
            PJ, Md Dom ZI, O'Neil K, Ihara K, Krolewski B, Badger HS,
            Petrazzuolo A, Corradi D, Galecki A, Wilson PC, Najafian B, Mauer
            M, Niewczas MA, Doria A, Humphreys BD, Duffin KL, Fiorina P, Nelson
            RG and Krolewski AS.
  TITLE     Neuroblastoma suppressor of tumorigenicity 1 is a circulating
            protein associated with progression to end-stage kidney disease in
            diabetes
  JOURNAL   Sci Transl Med 14 (657), eabj2109 (2022)
   PUBMED   35947673
  REMARK    GeneRIF: Neuroblastoma suppressor of tumorigenicity 1 is a
            circulating protein associated with progression to end-stage kidney
            disease in diabetes.
REFERENCE   2  (residues 1 to 181)
  AUTHORS   Nolan K, Kattamuri C, Rankin SA, Read RJ, Zorn AM and Thompson TB.
  TITLE     Structure of Gremlin-2 in Complex with GDF5 Gives Insight into
            DAN-Family-Mediated BMP Antagonism
  JOURNAL   Cell Rep 16 (8), 2077-2086 (2016)
   PUBMED   27524626
  REMARK    GeneRIF: The structure of Grem2-GDF5 complex has revealed a number
            of key findings for DAN-family mediated BMP2 inhibition.
REFERENCE   3  (residues 1 to 181)
  AUTHORS   Nolan K, Kattamuri C, Luedeke DM, Angerman EB, Rankin SA, Stevens
            ML, Zorn AM and Thompson TB.
  TITLE     Structure of neuroblastoma suppressor of tumorigenicity 1 (NBL1):
            insights for the functional variability across bone morphogenetic
            protein (BMP) antagonists
  JOURNAL   J Biol Chem 290 (8), 4759-4771 (2015)
   PUBMED   25561725
  REMARK    GeneRIF: inhibition toward BMP2 and BMP7, but not GDF5. Although
            NBL1(S67Y) was able to antagonize BMP7 as effectively as PRDC,
            NBL1(S67Y) was still 32-fold weaker than PRDC against BMP2.
REFERENCE   4  (residues 1 to 181)
  AUTHORS   Zhan M, Chen G, Pan CM, Gu ZH, Zhao SX, Liu W, Wang HN, Ye XP, Xie
            HJ, Yu SS, Liang J, Gao GQ, Yuan GY, Zhang XM, Zuo CL, Su B, Huang
            W, Ning G, Chen SJ, Chen JL and Song HD.
  CONSRTM   China Consortium for Genetics of Autoimmune Thyroid Disease
  TITLE     Genome-wide association study identifies a novel susceptibility
            gene for serum TSH levels in Chinese populations
  JOURNAL   Hum Mol Genet 23 (20), 5505-5517 (2014)
   PUBMED   24852370
REFERENCE   5  (residues 1 to 181)
  AUTHORS   Ahmed A, Kandola P, Ziada G and Parenteau N.
  TITLE     Purification and partial amino acid sequence of proteins from human
            epidermal keratinocyte conditioned medium
  JOURNAL   J Protein Chem 20 (4), 273-278 (2001)
   PUBMED   11594460
REFERENCE   6  (residues 1 to 181)
  AUTHORS   Ozaki T, Enomoto H, Nakamura Y, Kondo K, Seki N, Ohira M, Nomura N,
            Ohki M, Nakagawara A and Sakiyama S.
  TITLE     The genomic analysis of human DAN gene
  JOURNAL   DNA Cell Biol 16 (9), 1031-1039 (1997)
   PUBMED   9324305
REFERENCE   7  (residues 1 to 181)
  AUTHORS   Ozaki T, Ma J, Takenaga K and Sakiyama S.
  TITLE     Cloning of mouse DAN cDNA and its down-regulation in transformed
            cells
  JOURNAL   Jpn J Cancer Res 87 (1), 58-61 (1996)
   PUBMED   8609050
REFERENCE   8  (residues 1 to 181)
  AUTHORS   White PS, Maris JM, Beltinger C, Sulman E, Marshall HN, Fujimori M,
            Kaufman BA, Biegel JA, Allen C, Hilliard C, Valentine MB, Look AT,
            Enomoto H, Sakiyama S and Brodeur GM.
  TITLE     A region of consistent deletion in neuroblastoma maps within human
            chromosome 1p36.2-36.3
  JOURNAL   Proc Natl Acad Sci U S A 92 (12), 5520-5524 (1995)
   PUBMED   7777541
REFERENCE   9  (residues 1 to 181)
  AUTHORS   Enomoto H, Ozaki T, Takahashi E, Nomura N, Tabata S, Takahashi H,
            Ohnuma N, Tanabe M, Iwai J, Yoshida H et al.
  TITLE     Identification of human DAN gene, mapping to the putative
            neuroblastoma tumor suppressor locus
  JOURNAL   Oncogene 9 (10), 2785-2791 (1994)
   PUBMED   8084583
REFERENCE   10 (residues 1 to 181)
  AUTHORS   Ozaki T and Sakiyama S.
  TITLE     Molecular cloning and characterization of a cDNA showing negative
            regulation in v-src-transformed 3Y1 rat fibroblasts
  JOURNAL   Proc Natl Acad Sci U S A 90 (7), 2593-2597 (1993)
   PUBMED   8385338
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031727.43, DB482000.1,
            BC012037.1 and BM988954.1.
            On Feb 11, 2011 this sequence version replaced NP_005371.1.
            
            Summary: This gene product is the founding member of the
            evolutionarily conserved CAN (Cerberus and DAN) family of proteins,
            which contain a domain resembling the CTCK (C-terminal cystine
            knot-like) motif found in a number of signaling molecules. These
            proteins are secreted, and act as BMP (bone morphogenetic protein)
            antagonists by binding to BMPs and preventing them from interacting
            with their receptors. They may thus play an important role during
            growth and development. Alternatively spliced transcript variants
            have been identified for this gene. Read-through transcripts
            between this locus and the upstream mitochondrial inner membrane
            organizing system 1 gene (GeneID 440574) have been observed.
            [provided by RefSeq, May 2013].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream start codon, compared to variant 1. The encoded isoform
            (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3,
            4, 6, 7, and 8 encode the same isoform (2).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC012037.1, SRR3476690.617339.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375136.8/ ENSP00000364278.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..181
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     Protein         1..181
                     /product="neuroblastoma suppressor of tumorigenicity 1
                     isoform 2 precursor"
                     /note="neuroblastoma candidate region, suppression of
                     tumorigenicity 1; differential screening-selected gene
                     aberrant in neuroblastoma; DAN domain family member 1;
                     neuroblastoma suppressor of tumorigenicity 1;
                     neuroblastoma 1, DAN family BMP antagonist"
                     /calculated_mol_wt=17628
     sig_peptide     1..17
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1798
     Region          23..121
                     /region_name="DAN"
                     /note="DAN domain; pfam03045"
                     /db_xref="CDD:427112"
     Region          132..181
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P41271.2)"
     CDS             1..181
                     /gene="NBL1"
                     /gene_synonym="D1S1733E; DAN; DAND1; NB; NO3"
                     /coded_by="NM_005380.8:156..701"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="GeneID:4681"
                     /db_xref="HGNC:HGNC:7650"
                     /db_xref="MIM:600613"
ORIGIN      
        1 mmlrvlvgav lpamllaapp pinklalfpd ksawceakni tqivghsgce aksiqnracl
       61 gqcfsysvpn tfpqsteslv hcdscmpaqs mweivtlecp gheevprvdk lvekilhcsc
      121 qacgkepshe glsvyvqged gpgsqpgthp hphphphpgg qtpepedppg aphteeegae
      181 d
//
LOCUS       NP_001364393             551 aa            linear   PRI 19-MAR-2023
DEFINITION  chloride channel CLIC-like protein 1 isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_001364393
VERSION     NP_001364393.1
DBSOURCE    REFSEQ: accession NM_001377464.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 551)
  AUTHORS   Chu Q, Martinez TF, Novak SW, Donaldson CJ, Tan D, Vaughan JM,
            Chang T, Diedrich JK, Andrade L, Kim A, Zhang T, Manor U and
            Saghatelian A.
  TITLE     Regulation of the ER stress response by a mitochondrial
            microprotein
  JOURNAL   Nat Commun 10 (1), 4883 (2019)
   PUBMED   31653868
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 551)
  AUTHORS   Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z,
            Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G,
            Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT,
            Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R,
            Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M,
            Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH
            and Hejtmancik JF.
  TITLE     Mutation in the intracellular chloride channel CLCC1 associated
            with autosomal recessive retinitis pigmentosa
  JOURNAL   PLoS Genet 14 (8), e1007504 (2018)
   PUBMED   30157172
  REMARK    GeneRIF: Intracellular chloride transport by CLCC1 is a critical
            process in maintaining retinal integrity, and CLCC1 is crucial for
            survival and function of retinal cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 551)
  AUTHORS   Irvin MR, Shrestha S, Chen YD, Wiener HW, Haritunians T, Vaughan
            LK, Tiwari HK, Taylor KD, Scherzer R, Saag MS, Grunfeld C, Rotter
            JI and Arnett DK.
  TITLE     Genes linked to energy metabolism and immunoregulatory mechanisms
            are associated with subcutaneous adipose tissue distribution in
            HIV-infected men
  JOURNAL   Pharmacogenet Genomics 21 (12), 798-807 (2011)
   PUBMED   21897333
REFERENCE   4  (residues 1 to 551)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   5  (residues 1 to 551)
  AUTHORS   Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ayyagari R, Sabar F,
            Caruso R, Sieving PA, Riazuddin S and Hejtmancik JF.
  TITLE     Severe autosomal recessive retinitis pigmentosa maps to chromosome
            1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4
  JOURNAL   Hum Genet 118 (3-4), 356-365 (2005)
   PUBMED   16189710
REFERENCE   6  (residues 1 to 551)
  AUTHORS   Li X and Weinman SA.
  TITLE     Chloride channels and hepatocellular function: prospects for
            molecular identification
  JOURNAL   Annu Rev Physiol 64, 609-633 (2002)
   PUBMED   11826282
  REMARK    Review article
REFERENCE   7  (residues 1 to 551)
  AUTHORS   Nagasawa M, Kanzaki M, Iino Y, Morishita Y and Kojima I.
  TITLE     Identification of a novel chloride channel expressed in the
            endoplasmic reticulum, golgi apparatus, and nucleus
  JOURNAL   J Biol Chem 276 (23), 20413-20418 (2001)
   PUBMED   11279057
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL449266.17.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3604904.1,
                                           SRR14038192.2319490.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     Protein         1..551
                     /product="chloride channel CLIC-like protein 1 isoform 1
                     precursor"
                     /note="chloride channel CLIC-like protein 1; Mid-1-related
                     chloride channel protein 1; retinitis pigmentosa 32
                     (autosomal recessive)"
                     /calculated_mol_wt=60112
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1928
     Region          14..551
                     /region_name="MCLC"
                     /note="Mid-1-related chloride channel (MCLC); pfam05934"
                     /db_xref="CDD:428678"
     Site            185..205
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S66.1)"
     Site            217..237
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S66.1)"
     Site            330..350
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S66.1)"
     Region          363..415
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S66.1)"
     Site            438
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:17924679, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q96S66.1)"
     Region          447..551
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S66.1)"
     Site            464
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96S66.1)"
     Site            482
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96S66.1)"
     Site            509
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q96S66.1)"
     Site            524
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q96S66.1)"
     Site            532
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q96S66.1)"
     CDS             1..551
                     /gene="CLCC1"
                     /gene_synonym="MCLC; RP32"
                     /coded_by="NM_001377464.1:96..1751"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 11"
                     /db_xref="CCDS:CCDS41362.1"
                     /db_xref="GeneID:23155"
                     /db_xref="HGNC:HGNC:29675"
                     /db_xref="MIM:617539"
ORIGIN      
        1 mlcslllcec lllvagyahd ddwidptdml nydaasgtmr ksqakygisg ekdvspdlsc
       61 adeisecyhk ldsltykide cekkkredye sqsnpvfrry lnkilieagk lglpdenkgd
      121 mhydaeiilk retlleiqkf lngedwkpga lddalsdili nfkfhdfetw kwrfedsfgv
      181 dpynvlmvll cllcivvlva telwtyvrwy tqlrrvliis flfslgwnwm ylyklafaqh
      241 qaevakmepl nnvcakkmdw tgsiwewfrs swtykddpcq kyyelllvnp iwlvpptkal
      301 avtfttfvte plkhigkgtg efikalmkei pallhlpvli imalailsfc ygagksvhvl
      361 rhiggpesep pqalrprdrr rqeeidyrpd ggagdadfhy rgqmgpteqg pyaktyegrr
      421 eilrerdvdl rfqtgnkspe vlrafdvpda earehptvvp shkspvldtk pketggilge
      481 gtpkesstes sqsakpvsgq dtsgntegsp aaekaqlkse aagspdqgst yspargvagp
      541 rgqdpvsspc g
//
LOCUS       XP_047278470             239 aa            linear   PRI 20-MAR-2023
DEFINITION  diphthine methyl ester synthase isoform X3 [Homo sapiens].
ACCESSION   XP_047278470
VERSION     XP_047278470.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422514.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..239
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..239
                     /product="diphthine methyl ester synthase isoform X3"
                     /calculated_mol_wt=26903
     Region          1..>179
                     /region_name="TP_methylase"
                     /note="S-AdoMet-dependent tetrapyrrole methylases;
                     cl00304"
                     /db_xref="CDD:444820"
     Site            order(9,11,13..18,20..21,84,86..87,89,92..93,95..96,
                     99..100,106..112,114..116,118..119,121,123..125,127..130,
                     151..152,154,157)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:381174"
     CDS             1..239
                     /gene="DPH5"
                     /gene_synonym="AD-018; CGI-30; HSPC143; NEDSFF; NPD015"
                     /coded_by="XM_047422514.1:126..845"
                     /db_xref="GeneID:51611"
                     /db_xref="HGNC:HGNC:24270"
                     /db_xref="MIM:611075"
ORIGIN      
        1 mlyliglglg dakditvkgl evvrrcsrvy leaytsvltv gkealeefyg rklvvadree
       61 veqeadnilk dadisdvafl vvgdpfgatt hsdlvlratk lgipyrvihn asimnavgcc
      121 glqlykfget vsivfwtdtw rpesffdkvk knrqngmhtl clldikvkeq slenlinyrg
      181 dtlcwlsqgw srrpencsrh fkanvhcglg rtiafldhhr rqhtsngdgd aksvfhtrk
//
LOCUS       XP_011507959             907 aa            linear   PRI 20-MAR-2023
DEFINITION  transcriptional protein SWT1 isoform X1 [Homo sapiens].
ACCESSION   XP_011507959
VERSION     XP_011507959.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011509657.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..907
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..907
                     /product="transcriptional protein SWT1 isoform X1"
                     /calculated_mol_wt=103913
     Region          398..539
                     /region_name="PIN_Swt1-like"
                     /note="VapC-like PIN domain of Saccharomyces cerevisiae
                     Swt1p, human SWT1 and related proteins; cd18727"
                     /db_xref="CDD:350294"
     CDS             1..907
                     /gene="SWT1"
                     /gene_synonym="C1orf26; HsSwt1"
                     /coded_by="XM_011509657.2:158..2881"
                     /db_xref="GeneID:54823"
                     /db_xref="HGNC:HGNC:16785"
                     /db_xref="MIM:619513"
ORIGIN      
        1 msskescgkk etsqrkdttt sspnfgekdk kerktpasst ssssirsvss ekrklksdht
       61 dvlyynikrr qglkrlsvei dtlrrrpkig sssqrpiklk easysndnqi ilqspssngt
      121 kkdihkcvdf kpkdikltna gskldhgiks lsspkiasdv kpkaegqase nkwshllvqr
      181 ekmkelkkgr nskfrdnsek cvlekwkrnq fsqdynsnki ikeplgsrrq kisfkipiks
      241 rdtlqklvee nvfnidsnns ktkqeereyl essqvslnvt rqktehllsd ftykrtvhew
      301 krkhhydhqe sndshsrenl tqsfeapccs vssesiqdad qemqiveelh aarvgksvdl
      361 pgelmsmeid leddvhsssg ipymlmsnnt sdrkllivid tnilmnhlkf vrilkttevp
      421 gfdklvliip wvvmqeldrm kegkllkraq hkaipavhfi ndslknqdrk lwgqsiqlas
      481 qkhyglsden nddrvlkccl qhqelfpcsf vilctddrnl rnkglisgvk slskeelsae
      541 llhlslntdv chqpcipkqq lkaettplke sykeestnsg lsillesivs dlekslgtgl
      601 ssiletemki afgnlwmeil ylkppwtllh llqcfkkhwl avfglvmekn llltieslyk
      661 nlrkankavd fttvkfllqd srsllhafst rsnydgilpq tfaqvnnllq tfaevktklk
      721 pnssentvtk kqegtslkns hnqeitvfss shlpqpsrhq eiwsilesvw itiyqnstdv
      781 fqrlgsnsal ttsniasfee aficlqklma avrdilegiq rilapnsnyq dvetlynfli
      841 kyevnknvkf taqeiydcvs qteyreklti gcrqlvemey tmqqcnasvy meaknrgwce
      901 dmlnyri
//
LOCUS       XP_011508345             555 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X10
            [Homo sapiens].
ACCESSION   XP_011508345
VERSION     XP_011508345.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011510043.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..555
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..555
                     /product="phosphatidylinositol 4-phosphate 5-kinase type-1
                     alpha isoform X10"
                     /calculated_mol_wt=62442
     Region          73..448
                     /region_name="PIPKc_PIP5K1A_like"
                     /note="Phosphatidylinositol phosphate kinase (PIPK)
                     catalytic domain found in phosphatidylinositol 4-phosphate
                     5-kinase type-1 alpha (PIP5K1alpha) and similar proteins;
                     cd17306"
                     /db_xref="CDD:340443"
     Site            order(99..104,106,142,202,205..206,210..211,303,306,310)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:340443"
     Site            order(169..172,174,176,185,187,237..240,252,273,319,
                     396..397)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:340443"
     CDS             1..555
                     /gene="PIP5K1A"
                     /coded_by="XM_011510043.4:239..1906"
                     /db_xref="GeneID:8394"
                     /db_xref="HGNC:HGNC:8994"
                     /db_xref="MIM:603275"
ORIGIN      
        1 mhqiftelrh cavpnfvlea nktqiyfech seeaasgikr pmasevpyas gmpikkighr
       61 svdssgetty kkttssalkg aiqlgithtv gslstkperd vlmqdfyvve siffpsegsn
      121 ltpahhyndf rfktyapvaf ryfrelfgir pddylyslcs eplielcssg asgslfyvss
      181 ddefiiktvq hkeaeflqkl lpgyymnlnq nprtllpkfy glycvqaggk nirivvmnnl
      241 lprsvkmhik ydlkgstykr rasqkerekp lptfkdldfl qdipdglfld admynalckt
      301 lqrdclvlqs fkimdysllm sihnidhaqr eplssetqys vdtrrpapqk alystamesi
      361 qgearrggtm etddhmggip arnskgerll lyigiidilq syrfvkkleh swkalvhdgd
      421 tvsvhrpgfy aerfqrfmcn tvfkkiplkp spskkfrsgs sfsrragssg nscityqpsv
      481 sgehkaqvtt kaevepgvhl grpdvlpqtp pleeisegsp ipdpsfsplv getlqmltts
      541 ttleklevae sefth
//
LOCUS       XP_047281545             608 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 22 isoform X8 [Homo sapiens].
ACCESSION   XP_047281545
VERSION     XP_047281545.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425589.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..608
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..608
                     /product="rho GTPase-activating protein 22 isoform X8"
                     /calculated_mol_wt=66224
     Region          <18..61
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          61..259
                     /region_name="RhoGAP_ARHGAP22_24_25"
                     /note="GTPase-activator protein (GAP) domain for Rho-like
                     GTPases found in ARHGAP22, 24 and 25-like proteins; longer
                     isoforms of these proteins contain an additional
                     N-terminal pleckstrin homology (PH) domain. ARHGAP25
                     (KIA0053) has been identified as a GAP for...; cd04390"
                     /db_xref="CDD:239855"
     Site            order(105,142,146,217,220..221,245)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239855"
     Site            105
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239855"
     Region          <500..>588
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..608
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /coded_by="XM_047425589.1:226..2052"
                     /db_xref="GeneID:58504"
                     /db_xref="HGNC:HGNC:30320"
                     /db_xref="MIM:610585"
ORIGIN      
        1 mglccckdwr ghlrapkgga gerekvpanp ealllmassq rdmedwvqai rrviwaplgg
       61 gifgqrleet vhherkygpr lapllveqcv dfirerglte eglfrmpgqa nlvrdlqdsf
      121 dcgekplfds ttdvhtvasl lklylrelpe pvvpfaryed flscaqlltk degegtlela
      181 kqvsnlpqan ynllryickf ldevqaysnv nkmsvqnlat vfgpnilrpq vedpvtimeg
      241 tslvqhlmtv lirkhsqlft apvpegptsp rgglqcavgw gseevtrdsq gepggpglpa
      301 hrtssldgaa vavlsrtapt gpgsrcspgk kvqtlpswks sfrqprslsg spkgggssle
      361 vpiissggnw lmnglsslrg hrrassgdrl kdsgsvqrls tydnvpapgl vpgipsvasm
      421 awsgassses svggslssct acrasdssar sslhtdwale psplpsssed pksldldhsm
      481 deagagasns epsepdsptr eharrsealq glvtelrael crqrteyers vkrieegsad
      541 lrkrmsrlee eldqekkkyi mleiklrnse raredaerrn qllqremeef fstlgsltvg
      601 akgarapk
//
LOCUS       XP_011541037             323 aa            linear   PRI 20-MAR-2023
DEFINITION  angiopoietin-related protein 5 isoform X1 [Homo sapiens].
ACCESSION   XP_011541037
VERSION     XP_011541037.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011542735.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..323
                     /product="angiopoietin-related protein 5 isoform X1"
                     /calculated_mol_wt=36692
     Region          115..317
                     /region_name="FReD"
                     /note="Fibrinogen-related domains (FReDs); C terminal
                     globular domain of fibrinogen. Fibrinogen is involved in
                     blood clotting, being activated by thrombin to assemble
                     into fibrin clots. The N-termini of 2 times 3 chains come
                     together to form a globular...; cd00087"
                     /db_xref="CDD:238040"
     Site            207
                     /site_type="other"
                     /note="gamma-gamma dimer interface [polypeptide binding]"
                     /db_xref="CDD:238040"
     Site            order(241,243,245)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238040"
     Site            order(259,262..263,273..274)
                     /site_type="active"
                     /note="polymerization pocket [active]"
                     /db_xref="CDD:238040"
     CDS             1..323
                     /gene="ANGPTL5"
                     /coded_by="XM_011542735.4:597..1568"
                     /db_xref="GeneID:253935"
                     /db_xref="HGNC:HGNC:19705"
                     /db_xref="MIM:607666"
ORIGIN      
        1 mmspsqasll flnvcificg eavqgncvhh stdssvvniv edgsnakdes ksndtvcked
       61 ceescdvktk itreekhfmc rnlqnsivsy trstkkllrn mmdeqqasld ylsnqvmcdm
      121 dyrgggrtvi qkridgiidf qrlwcdyldg fgdllgefwl glkkifyivn qkntsfmlyv
      181 aleseddtla yasydnfwle detrffkmhl grysgnagda frglkkednq nampfstsdv
      241 dndgcrpacl vngqsvkscs hlhnktgwwf necglanlng ihhfsgklla tgiqwgtwtk
      301 nnspvkiksv smkirrmynp yfk
//
LOCUS       XP_011543400             134 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 138 isoform X2 [Homo sapiens].
ACCESSION   XP_011543400
VERSION     XP_011543400.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011545098.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..134
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..134
                     /product="transmembrane protein 138 isoform X2"
                     /calculated_mol_wt=15611
     Region          38..>127
                     /region_name="TMEM138"
                     /note="Transmembrane protein 138; pfam14935"
                     /db_xref="CDD:434328"
     CDS             1..134
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /coded_by="XM_011545098.3:187..591"
                     /db_xref="GeneID:51524"
                     /db_xref="HGNC:HGNC:26944"
                     /db_xref="MIM:614459"
ORIGIN      
        1 mlqtsnyslv lslqflllsy dlfvnsfsel lqktpviqlv lfiiqdiavl fniiiiflmf
       61 fntfvfqagl vnllfhkfkg tiiltavyfa lsislhvwvm nlrwknsnsf iwtdglqmlf
      121 vfqrlesrkl lsyl
//
LOCUS       XP_047283790            2323 aa            linear   PRI 20-MAR-2023
DEFINITION  neuron navigator 2 isoform X37 [Homo sapiens].
ACCESSION   XP_047283790
VERSION     XP_047283790.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427834.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2323
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..2323
                     /product="neuron navigator 2 isoform X37"
                     /calculated_mol_wt=250405
     Region          5..118
                     /region_name="CH_NAV2"
                     /note="calponin homology (CH) domain found in neuron
                     navigator 2; cd21285"
                     /db_xref="CDD:409134"
     Site            order(15,19,73,75..76,79..80,82,91..99,104,106..107,
                     109..110,113..114,117)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409134"
     Region          <135..>322
                     /region_name="PRK07003"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:235906"
     Region          <214..643
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          874..>1226
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          <1522..>1794
                     /region_name="Mplasa_alph_rch"
                     /note="helix-rich Mycoplasma protein; TIGR04523"
                     /db_xref="CDD:275316"
     Region          1733..>1791
                     /region_name="Atg16_CCD"
                     /note="Coiled-coiled domain of autophagy-related 16
                     (Atg16) family proteins; cd22887"
                     /db_xref="CDD:439196"
     Region          1988..>2075
                     /region_name="AAA_22"
                     /note="AAA domain; pfam13401"
                     /db_xref="CDD:379165"
     CDS             1..2323
                     /gene="NAV2"
                     /gene_synonym="HELAD1; POMFIL2; RAINB1; STEERIN2; UNC53H2"
                     /coded_by="XM_047427834.1:48..7019"
                     /db_xref="GeneID:89797"
                     /db_xref="HGNC:HGNC:15997"
                     /db_xref="MIM:607026"
ORIGIN      
        1 msvmlwrweq nnttmkliyt dwanhylaks ghkrlirdlq qdvtdgvlla qiiqvvanek
       61 iedingcpkn rsqmienida clnflaakgi niqglsaeei rngnlkailg lffslsrykq
      121 qqqqpqkqhl ssplppavsq vagapsqcqa gtpqqqvpvt pqapcqphqp aphqqskaqa
      181 emqsrlpgpt arvsaagsea ktrggsttan nrrsqsfnny dkskpvtspp pppsshekep
      241 lassasshpg msdnapasle sgssstptnc stssaipqpg aatkpwrsks lsvkhsatvs
      301 mlsvkppgpe aprptpeamk papnnqksml eklklfnskg gskagegpgs rdtscerlet
      361 lpsfeeseel eaasrmlttv gpassspkia lkgiaqrtfs raltnkkssl kgnekekekq
      421 qrekdkeksk dlakrasvte rldlkeepke dpsgaavpem pkksskiasf ipkggklnsa
      481 kkepmapshs gipkpgmksm pgkspsapap skegersrsg klssglpqqk pqldgrhsss
      541 ssslassegk gpggttlnhs issqtvsgsv gttqttgsnt vsvqlpqpqq qynhpntatv
      601 apflyrsqtd tegnvtaess stgvsvepsh ftktgqpale eltgedpear rlrtvkniad
      661 lrqnleetms slrgtqvths tlettfdtnv ttemsgrsil sltgrptpls wrlgqssprl
      721 qagdapsmgn gyppranasr fintesgryv ysaplrrqla srgssvchvd vsdkagdemd
      781 legismdapg ymsdgdvlsk nirtdditsg ymtdgglgly trrlnrlpdg mavvretlqr
      841 ntslglgdad swddsssvss gisdtidnls tddintsssi ssyantpass rknldvqtda
      901 ekhsqverns lwsgddvkks dggsdsgikm epgskwrrnp sdvsdesdks tsgkknpvis
      961 qtgswrrgmt aqvgitmprt kpsapagalk tpgtgktdda kvsekgrlsp kasqvkrsps
     1021 dagrssgdes kkplpsssrt ptanansfgf kkqsgsaagl amitasgvtv tsrsatlgki
     1081 pkssalvsrs agrkssmdga qnqddgylal ssrtnlqyrs lprpsksnsr ngagnrssts
     1141 sidsnissks aglpvpklre psktalgssl pglvnqtdke kgissdnesv ascnsvkvnp
     1201 aaqpvsspaq tslqpgakyp dvasptlrrl fggkptkqvp iataenmkns vvisnphatm
     1261 tqqgnldsps gsgvlssgss splysknvdl nqsplassps sahsapsnsl twgtnassss
     1321 avskdglgfq svsslhtsce sidislssgg vpshnsstgl iasskddslt pfvrtnsvkt
     1381 tlserytpts qlrtqedake wlrshsaggl qdtaanspfs sgssvtspsg trfnfsqlas
     1441 pttvtqmsls nptmlrthsl snadgqydpy tdsrfrnssm sldeksrtms rsgsfrdgfe
     1501 evhgsslslv sstssvystp eekcqseirk lrreldasqe kvsalttqlt anahlvaafe
     1561 qslgnmtirl qsltmtaeqk dselnelrkt iellkkqnaa aqaaingvin tpelnckgng
     1621 taqsadlrir rqhssdsvss insatshssv gsniesdskk kkrknwvnel rssfkqafgk
     1681 kkspksassh sdieemtdss lpsspklphn gstgstpllr nshsnslise cmdseaetvm
     1741 qlrnelrdke mkltdirlea lssahqldql reamnrmqse ieklkaendr lksesqgsgc
     1801 srapsqvsis asprqsmgls qhslnltest sldmllddtg ecsarkeggr hvkivvsfqe
     1861 emkwkedsrp hlfligcigv sgktkwdvld gvvrrlfkey iihvdpvsql glnsdsvlgy
     1921 sigeikrsnt setpellpcg ylvgenttis vtvkglaens ldslvfesli pkpilqryvs
     1981 lliehrriil sgpsgtgkty lanrlseyiv lregreltdg viatfnvdhk sskelrqyls
     2041 nladqcnsen navdmplvii ldnlhhvssl geifngllnc kyhkcpyiig tmnqatsstp
     2101 nlqlhhnfrw vlcanhtepv kgflgrflrr klmeteisgr vrnmelvkii dwipkvwhhl
     2161 nrfleahsss dvtigprlfl scpidvdgsr vwftdlwnys iipylleavr eglqlygrra
     2221 pwedpakwvm dtypwaaspq qhewppllql rpedvgfdgy smpregstsk qmppsdaegd
     2281 plmnmlmrlq eaanysspqs ydsdsnsnsh hddildssle stl
//
LOCUS       XP_011523135             981 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM37 isoform X5 [Homo sapiens].
ACCESSION   XP_011523135
VERSION     XP_011523135.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011524833.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..981
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..981
                     /product="E3 ubiquitin-protein ligase TRIM37 isoform X5"
                     /calculated_mol_wt=109689
     Region          13..55
                     /region_name="mRING-HC-C4C4_TRIM37_C-VIII"
                     /note="Modified RING finger, HC subclass (C4C4-type),
                     found in tripartite motif-containing protein 37 (TRIM37)
                     and similar proteins; cd16619"
                     /db_xref="CDD:438281"
     Region          93..132
                     /region_name="Bbox2_TRIM37_C-VIII"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein 37 (TRIM37) and similar proteins;
                     cd19779"
                     /db_xref="CDD:380837"
     Region          132..254
                     /region_name="BBC"
                     /note="B-Box C-terminal domain; smart00502"
                     /db_xref="CDD:128778"
     Region          270..389
                     /region_name="MATH_TRIM37"
                     /note="Tripartite motif containing protein 37 (TRIM37)
                     family, MATH domain; TRIM37 is a peroxisomal protein and
                     is a member of the tripartite motif (TRIM) protein
                     subfamily, also known as the RING-B-box-coiled-coil (RBCC)
                     subfamily of zinc-finger proteins; cd03773"
                     /db_xref="CDD:239742"
     Site            305
                     /site_type="active"
                     /note="Mulibrey nanism-associated mutation residue
                     [active]"
                     /db_xref="CDD:239742"
     Site            order(311,355..357)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:239742"
     CDS             1..981
                     /gene="TRIM37"
                     /gene_synonym="MUL; POB1; TEF3"
                     /coded_by="XM_011524833.2:420..3365"
                     /db_xref="GeneID:4591"
                     /db_xref="HGNC:HGNC:7523"
                     /db_xref="MIM:605073"
ORIGIN      
        1 mdeqsvesia evfrcficme klrdarlcph csklccfsci rrwlteqraq cphcraplql
       61 relvncrwae evtqqldtlq lcsltkheen ekdkcenhhe klsvfcwtck kcichqcalw
      121 ggmhgghtfk plaeiyeqhv tkvneevakl rrrlmelisl vqevernvea vrnakdervr
      181 eirnavemmi arldtqlknk litlmgqkts ltqetelles llqevehqlr scskselisk
      241 sseilmmfqq vhrkpmasfv ttpvppdfts tlrqradpvy spplqvsglc wrlkvypdgn
      301 gvvrgyylsv flelsaglpe tskyeyrvem vhqscndptk niirefasdf evgecwgynr
      361 ffrldllane gylnpqndtv ilrfqvrspt ffqksrdqhw yitqleaaqt syiqqinnlk
      421 erltielsrt qksrdlsppd nhlspqndda letrakksac sdmlleggpt tasvreaked
      481 eedeekiqne dyhhelsdgd ldldlvyede vnqldgssss asstatsnte endideetms
      541 gendveynnm eleegelmed aaaagpagss hgyvgsssri srrthlcsaa tsslldidpl
      601 ilihlldlkd rssienlwgl qprppasllq ptasysrkdk dqrkqqamwr vpsdlkmlkr
      661 lktqmaevrc mktdvkntls eiksssaasg dmqtslfsad qaalaacgte nsgrlqdlgm
      721 ellakssvan cyirnstnkk snspkparss vagslslrra vdpgensrsk gdcqtlsegs
      781 pgssqsgsrh sspralihgs igdilpkted rqckaldsda vvvavfsglp avekrrkmvt
      841 lganakgghl eglqmtdlen nsetgelqpv lpegasaape eetcspsflp gmssdsdiec
      901 dteneeqeeh tsvggfhdsf mvmtqppded thssfpdgeq igpedlsfnt densgrqlpl
      961 siwchlvtlq pqlsngfekm s
//
LOCUS       XP_047292082             848 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM37 isoform X33 [Homo sapiens].
ACCESSION   XP_047292082
VERSION     XP_047292082.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436126.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..848
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..848
                     /product="E3 ubiquitin-protein ligase TRIM37 isoform X33"
                     /calculated_mol_wt=95040
     Region          <6..21
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Region          59..98
                     /region_name="Bbox2_TRIM37_C-VIII"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein 37 (TRIM37) and similar proteins;
                     cd19779"
                     /db_xref="CDD:380837"
     Region          98..220
                     /region_name="BBC"
                     /note="B-Box C-terminal domain; smart00502"
                     /db_xref="CDD:128778"
     Region          239..372
                     /region_name="MATH_TRIM37"
                     /note="Tripartite motif containing protein 37 (TRIM37)
                     family, MATH domain; TRIM37 is a peroxisomal protein and
                     is a member of the tripartite motif (TRIM) protein
                     subfamily, also known as the RING-B-box-coiled-coil (RBCC)
                     subfamily of zinc-finger proteins; cd03773"
                     /db_xref="CDD:239742"
     Site            288
                     /site_type="active"
                     /note="Mulibrey nanism-associated mutation residue
                     [active]"
                     /db_xref="CDD:239742"
     Site            order(294,338..340)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:239742"
     CDS             1..848
                     /gene="TRIM37"
                     /gene_synonym="MUL; POB1; TEF3"
                     /coded_by="XM_047436126.1:420..2966"
                     /db_xref="GeneID:4591"
                     /db_xref="HGNC:HGNC:7523"
                     /db_xref="MIM:605073"
ORIGIN      
        1 mdeqsverwl teqraqcphc raplqlrelv ncrwaeevtq qldtlqlcsl tkheenekdk
       61 cenhheklsv fcwtckkcic hqcalwggmh gghtfkplae iyeqhvtkvn eevaklrrrl
      121 melislvqev ernveavrna kdervreirn avemmiarld tqlknklitl mgqktsltqe
      181 tellesllqe vehqlrscsk seliskssei lmmfqqvhrk pmasfvttpv ppdftselvp
      241 sydsatfvle nfstlrqrad pvyspplqvs glcwrlkvyp dgngvvrgyy lsvflelsag
      301 lpetskyeyr vemvhqscnd ptkniirefa sdfevgecwg ynrffrldll anegylnpqn
      361 dtvilrfqvr sptffqksrd qhwyitqlea aqtsyiqqin nlkerltiel srtqksrdls
      421 ppdnhlspqn ddaletrakk sacsdmlleg gpttasvrea kedeedeeki qnedyhhels
      481 dgdldldlvy edevnqldgs sssasstats nteendidee tmsgendvey nnmeleegel
      541 medaaaagpa gsshgyvgss srisrrthlc saatsslldi dplilihlld lkdrssienl
      601 wglqprppas llqptasysr kdkdqrkqqa mwrvpsdlkm lkrlktqmae vrcmktdvkn
      661 tlseiksssa asgdmqtslf sadqaalaac gtensgrlqd lgmellakss vancyirncs
      721 pgssqsgsrh sspralihgs igdilpkted rqckaldsda vvvavfsglp avekrrkmvt
      781 lganakgghl eglqmtdlen nsetgelqpv lpegasaape edthssfpdg eqigpedlsf
      841 ntdensgr
//
LOCUS       XP_047292801             776 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-XIX isoform X19 [Homo sapiens].
ACCESSION   XP_047292801
VERSION     XP_047292801.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436845.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..776
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..776
                     /product="unconventional myosin-XIX isoform X19"
                     /calculated_mol_wt=86916
     Region          49..776
                     /region_name="MYSc_Myo19"
                     /note="class XIX myosin, motor domain; cd14880"
                     /db_xref="CDD:276846"
     Site            order(76..85,163..170,216..226,491..496)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276846"
     Site            76..85
                     /site_type="other"
                     /note="purine-binding loop"
                     /db_xref="CDD:276846"
     Site            163..170
                     /site_type="other"
                     /note="P-loop"
                     /db_xref="CDD:276846"
     Site            216..226
                     /site_type="other"
                     /note="switch I region"
                     /db_xref="CDD:276846"
     Site            491..496
                     /site_type="other"
                     /note="switch II region"
                     /db_xref="CDD:276846"
     Site            520..543
                     /site_type="other"
                     /note="relay loop"
                     /db_xref="CDD:276846"
     Site            721..730
                     /site_type="other"
                     /note="SH1 helix"
                     /db_xref="CDD:276846"
     Site            order(733..759,772..776)
                     /site_type="other"
                     /note="converter subdomain"
                     /db_xref="CDD:276846"
     CDS             1..776
                     /gene="MYO19"
                     /gene_synonym="MYOHD1"
                     /coded_by="XM_047436845.1:404..2734"
                     /db_xref="GeneID:80179"
                     /db_xref="HGNC:HGNC:26234"
                     /db_xref="MIM:617379"
ORIGIN      
        1 mlqqvnghnp gsdgqareyl redlqeflgg evllyklddl trvnpvtlet vlrclqarym
       61 adtfytnagc tlvalnpfkp vpqlyspelm reyhaapqpq qcghsesasa tacpigagri
      121 lnheelttgq kklkphvftv geqtyrnvks liepvnqsiv vsgesgagkt wtsrclmkfy
      181 avvatspasw eshkiaerie qrilnsnpvm eafgnactlr nnnssrfgkf iqlqlnraqq
      241 mtgaavqtyl lektrvacqa ssernfhify qickgasede rlqwhlpega afswlpnper
      301 sleedcfevt reamlhlgid tptqnnifkt apeqqegidr mawqsrkggh frevamqwkv
      361 tltsrwgllr hcqvlagllh lgniqfaase deaqpcqpmd dakcedsvrt aasllglped
      421 vllemvqirt iragrqqqvf rkpcaraecd trrdclakli yarlfdwlvs vinssicadt
      481 dswttfigll dvygfesfpd nsleqlciny aneklqqhfv ahylraqqee yaveglewsf
      541 inyqdnqpcl dliegspisi cslineecrl nrpssaaqlq trietalags pclghnklsr
      601 epsfivvhya gpvryhtagl veknkdpipp eltrllqqsq dpllmglfpt npkektqeep
      661 pgqsrapvlt vvskfkasle qllqvlhstt phyircikpn sqgqaqtflq eevlsqleac
      721 glvetihisa agfpirvshr nfverykllr rlhpctssgp dspypakglp allapg
//
LOCUS       XP_047293820             335 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 68 isoform X1 [Homo sapiens].
ACCESSION   XP_047293820
VERSION     XP_047293820.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437864.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..335
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..335
                     /product="coiled-coil domain-containing protein 68 isoform
                     X1"
                     /calculated_mol_wt=38738
     Region          <93..>300
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..335
                     /gene="CCDC68"
                     /gene_synonym="SE57-1"
                     /coded_by="XM_047437864.1:225..1232"
                     /db_xref="GeneID:80323"
                     /db_xref="HGNC:HGNC:24350"
                     /db_xref="MIM:616909"
ORIGIN      
        1 mttvtvttei pprdkmedns alyestsahi ieeteyvkki rttlqkirtq mfkdeirhds
       61 tnhkldakhc gnlqqgsdse mdpsccsldl lmkkikgkdl qllemnkene vlkiklqasr
      121 eagaaalrnv aqrlfenyqt qseevrkkqe dskqllqvnk lekeqklkqh venlnqvaek
      181 leekhsqite lenlvqrmek ekrtllerkl slenkllqlk ssatygkscq dlqreisilq
      241 eqishlqfvi hsqhqnlrsv iqemeglknn lkeqdkrien lrekvnilea qnkelktqva
      301 lssetprtkv skavstselk tegvspylml irlrk
//
LOCUS       XP_006712844             698 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-specific gene 10 protein isoform X6 [Homo sapiens].
ACCESSION   XP_006712844
VERSION     XP_006712844.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006712781.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..698
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..698
                     /product="testis-specific gene 10 protein isoform X6"
                     /calculated_mol_wt=81290
     Region          <140..504
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          412..>615
                     /region_name="COG4372"
                     /note="Uncharacterized conserved protein, contains DUF3084
                     domain [Function unknown]"
                     /db_xref="CDD:226809"
     CDS             1..698
                     /gene="TSGA10"
                     /gene_synonym="CEP4L; CT79; SPGF26"
                     /coded_by="XM_006712781.3:635..2731"
                     /db_xref="GeneID:80705"
                     /db_xref="HGNC:HGNC:14927"
                     /db_xref="MIM:607166"
ORIGIN      
        1 mmrsrskspr rpsptargan cdvellkttt rdreelkcml ekyerhlaei qgnvkvlkse
       61 rdkifllyeq aqeeitrlrr emmksckspk sttahailrr veterdvaft dlrrmtterd
      121 slrerlkiaq etafnekahl eqrieelect vhnldderme qmsnmtlmke tistvekemk
      181 slarkamdte selgrqkaen nslrllyent ekdlsdtqrh lakkkyelql tqekimclde
      241 kidnftrqni aqreeisilg gtlndlakek eclqacldkk seniaslges lamkektisg
      301 mkniiaemeq asrqcteali vceqdvsrmr rqldetndel aqiarerdil ahdndnlqeq
      361 fakakqenqa lskklndthn elndikqkvq dtnlevnklk nilkseesen rqmmeqlrka
      421 nedaenwenk arqseadnnt lklelitaea egnrlkekvd slnreveqhl naersyksqi
      481 stlhksvvkm eeelqkvqfe kvsaladlss trelciklds skellnrqlv akdqeiemre
      541 neldsahsei ellrsqmane rismqnleal lvanrdkeyq sqialqekes eiqllkehlc
      601 laenkmaiqs rdvaqfrnvv tqleadldit krqlgterfe reravqelrr qnyssnayhm
      661 sstmkpntkc hsperahhrs pdrgldrsle enlcyrdf
//
LOCUS       XP_047296989             446 aa            linear   PRI 20-MAR-2023
DEFINITION  cystathionine beta-synthase isoform X7 [Homo sapiens].
ACCESSION   XP_047296989
VERSION     XP_047296989.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441033.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..446
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..446
                     /product="cystathionine beta-synthase isoform X7"
                     /calculated_mol_wt=49088
     Region          1..439
                     /region_name="cysta_beta"
                     /note="cystathionine beta-synthase; TIGR01137"
                     /db_xref="CDD:273464"
     CDS             1..446
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /coded_by="XM_047441033.1:599..1939"
                     /db_xref="GeneID:875"
                     /db_xref="HGNC:HGNC:1550"
                     /db_xref="MIM:613381"
ORIGIN      
        1 makceffnag gsvkdrislr miedaerdgt lkpgdtiiep tsgntgigla laaavrgyrc
       61 iivmpekmss ekvdvlralg aeivrtptna rfdspeshvg vawrlkneip nshildqyrn
      121 asnplahydt tadeilqqcd gkldmlvasv gtggtitgia rklkekcpgc riigvdpegs
      181 ilaepeelnq teqttyeveg igydfiptvl drtvvdkwfk sndeeaftfa rmliaqegll
      241 cggsagstva vavkaaqelq egqrcvvilp dsvrnymtkf lsdrwmlqkg flkeedltek
      301 kpwwwhlrvq elglsapltv lptitcghti eilrekgfdq apvvdeagvi lgmvtlgnml
      361 ssllagkvqp sdqvgkviyk qfkqirltdt lgrlshilem dhfalvvheq iqyhstgkss
      421 qrqmvfgvvt aidllnfvaa qerdqk
//
LOCUS       XP_005265126            2285 aa            linear   PRI 20-MAR-2023
DEFINITION  golgin subfamily A member 4 isoform X1 [Homo sapiens].
ACCESSION   XP_005265126
VERSION     XP_005265126.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005265069.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2285
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..2285
                     /product="golgin subfamily A member 4 isoform X1"
                     /calculated_mol_wt=266753
     Region          <191..507
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     Region          <370..1052
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          796..1720
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          <1501..2196
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          2227..2270
                     /region_name="Grip"
                     /note="golgin-97, RanBP2alpha,Imh1p and p230/golgin-245;
                     smart00755"
                     /db_xref="CDD:197860"
     CDS             1..2285
                     /gene="GOLGA4"
                     /gene_synonym="CRPF46; GCP2; GOLG; MU-RMS-40.18; p230"
                     /coded_by="XM_005265069.4:281..7138"
                     /db_xref="GeneID:2803"
                     /db_xref="HGNC:HGNC:4427"
                     /db_xref="MIM:602509"
ORIGIN      
        1 mfkklkqkis eeqqqlqqal apaqassnss tptrmrsrts sfteqldegt pnrellagmi
       61 aepaflseyt ifaldsskhp ktqsdsvnas thaskspdsv ngsepsipqs gdtqsfaqkl
      121 qlrvpsvesl frspikeslf rssskeslvr tssreslnrl dldsstasfd ppsdmdseae
      181 dlvgnsdsln keqliqrlrr merslssyrg kyselvtayq mlqrekkklq gilsqsqdks
      241 lrriaelree lqmdqqakkh lqeefdasle ekdqyisvlq tqvsllkqrl rngpmnvdvl
      301 kplpqlepqa evftkeenpe sdgepvvedg tsvktletlq qrvkrqenll krcketiqsh
      361 keqctlltse kealqeqlde rlqelekikd lhmaektkli tqlrdaknli eqleqdkgmv
      421 iaetkrqmhe tlemkeeeia qlrsrikqmt tqgeelreqk ekseraafee lekalstaqk
      481 teearrklka emdeqiktie ktseeerisl qqelsrvkqe vvdvmkksse eqiaklqklh
      541 ekelarkeqe ltkklqtrer efqeqmkval eksqseylki sqekeqqesl aleelelqkk
      601 ailtesenkl rdlqqeaety rtrileless lekslqenkn qskdlavhle aeknkhnkei
      661 tvmvekhkte leslkhqqda lwteklqvlk qqyqtemekl rekceqeket llkdkeiifq
      721 ahieemnekt lekldvkqte leslsselse vlkarhklee elsvlkdqtd kmkqeleakm
      781 deqknhhqqq vdsiikehev siqrtekalk dqinqlelll kerdkhlkeh qahvenlead
      841 ikrsegelqq asakldvfqs yqsatheqtk ayeeqlaqlq qklldleter illtkqvaev
      901 eaqkkdvcte ldahkiqvqd lmqqlekqns emeqkvkslt qvyeskledg nkeqeqtkqi
      961 lvekenmilq mregqkkeie iltqklsake dsihilneey etkfknqekk mekvkqkake
     1021 mqetlkkkll dqeaklkkel entalelsqk ekqfnakmle maqansagis davsrletnq
     1081 keqiesltev hrrelndvis iwekklnqqa eelqeiheiq lqekeqevae lkqkillfgc
     1141 ekeemnkeit wlkeegvkqd ttlnelqeql kqksahvnsl aqdetklkah leklevdlnk
     1201 slkentflqe qlvelkmlae edkrkvselt sklkttdeef qslkssheks nksledksle
     1261 fkklseelai qldicckkte alleaktnel inisssktna ilsrishcqh rttkvkeall
     1321 iktctvsele aqlrqlteeq ntlnisfqqa thqleekenq iksmkadies lvtekealqk
     1381 eggnqqqaas ekescitqlk kelseninav tlmkeelkek kveisslskq ltdlnvqlqn
     1441 sislsekeaa isslrkqyde ekcelldqvq dlsfkvdtls kekisaleqv ddwsnkfsew
     1501 kkkaqsrftq hqntvkelqi qlelkskeay ekdeqinllk eeldqqnkrf dclkgemedd
     1561 kskmekkesn letelksqta rimeledhit qktieiesln evlknynqqk diehkelvqk
     1621 lqhfqelgee kdnrvkeaee kiltlenqvy smkaeletkk kelehvnlsv kskeeelkal
     1681 edrlesesaa klaelkrkae qkiaaikkql lsqmeekeeq ykkgteshls elntklqere
     1741 revhileekl ksvessqset livprsaknv aayteqeead sqgcvqktye ekisvlqrnl
     1801 tekekllqrv gqekeetvss hfemrcqyqe rliklehaea kqhedqsmig hlqeeleekn
     1861 kkyslivaqh vekeggknni qakqnlenvf ddvqktlqek eltcqileqk ikeldsclvr
     1921 qkevhrveme eltskyeklq alqqmdgrnk ptelleente ekskshlvqp kllsnmeaqh
     1981 ndlefklaga erekqklgke ivrlqkdlrm lrkehqqele ilkkeydqer eekikqeqed
     2041 lelkhnstlk qlmrefntql aqkeqelemt iketinkaqe veaelleshq eetnqllkki
     2101 aekdddlkrt akryeeilda reeemtakvr dlqtqleelq kkyqqkleqe enpgndnvti
     2161 melqtqlaqk ttlisdsklk eqefreqihn ledrlkkyek nvyattvgtp ykggnlyhtd
     2221 vslfgeptef eylrkvlfey mmgretktma kvittvlkfp ddqtqkiler edarlmftsp
     2281 rsgif
//
LOCUS       XP_024309415             941 aa            linear   PRI 20-MAR-2023
DEFINITION  HMG box transcription factor BBX isoform X3 [Homo sapiens].
ACCESSION   XP_024309415
VERSION     XP_024309415.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453647.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..941
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..941
                     /product="HMG box transcription factor BBX isoform X3"
                     /calculated_mol_wt=104999
     Region          81..149
                     /region_name="HMG-box_HBP2"
                     /note="high mobility group (HMG)-box found in HMG
                     box-containing protein 2 (HBP2) and similar proteins;
                     cd21989"
                     /db_xref="CDD:438805"
     Site            order(81..82,84..88,91..92,99,111..112,115,118..119,126,
                     130,133,137,140)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438805"
     Region          191..322
                     /region_name="DUF2028"
                     /note="Domain of unknown function (DUF2028); pfam09667"
                     /db_xref="CDD:430742"
     CDS             1..941
                     /gene="BBX"
                     /gene_synonym="ARTC1; HBP2; HSPC339; MDS001"
                     /coded_by="XM_024453647.2:362..3187"
                     /db_xref="GeneID:56987"
                     /db_xref="HGNC:HGNC:14422"
ORIGIN      
        1 mkgsnrnkdh saegegvgkr pkrkclqwhp llakklldfs eeeeeedeee didkvqllga
       61 dgleqdvget eddespeqra rrpmnafllf ckrhrslvrq ehprldnrga tkiladwwav
      121 ldpkekqkyt dmakeykdaf mkanpgykwc pttnkpvksp tptvnprkkl wafpsdssrd
      181 lpspkkakte empqlnfgma dptqmgglsm lllagehalg tpevssgtcr pdvsespelr
      241 qksplfqfae issstshsda stkqcqtsal fqfaeissnt sqlggaepvk rcgksalfql
      301 aemclasegm kmeesklika kesdggrike lekgkeekei kmektdetrl qkeaefeksa
      361 kenlrdskel rnfealqidd imaikmedpk eirkeeleed hkcshfpdfs ysasskiiis
      421 dvpsrkdhmc hphgimiied paalnkpekl kkkkkkskmd rhgndkstpk ktckkrqsse
      481 sdiesviyti eavakgdwgi eklgdtprkk vrtsssgkgs ildakppkkk vksrekkmsk
      541 ekssdttkes rppdfisisa sknisgetpe gikaepltpm edalppslsg qakpedsdch
      601 rkietcgsrk sersckgaly ktlvsegmlt slranvdrgk rssgkgnssd hegcwneesw
      661 tfsqsgtsgs kkfkktkpke dcllgsakld eefekkfnsl pqyspvtfdr kcvpvprkkk
      721 ktgnvssept ktskgpfqsq kknlfhkivs kykhkkekpn vpekgsgdkw snkqlfldai
      781 hpteaifsed rntmepvhkv knipsifntp eptttqeplv gsqkrkarkt kithlvrtad
      841 grvspaggtl ddkpkeqlqr slpkatetdc ndkcshntev getrsstpem pavsaffsla
      901 alaevaamen vhrgqrstpl thdgqpkemp qapvliscad q
//
LOCUS       XP_016864748             380 aa            linear   PRI 20-MAR-2023
DEFINITION  septin-8 isoform X9 [Homo sapiens].
ACCESSION   XP_016864748
VERSION     XP_016864748.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009259.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..380
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..380
                     /product="septin-8 isoform X9"
                     /calculated_mol_wt=44502
     Region          1..247
                     /region_name="CDC_Septin"
                     /note="CDC/Septin GTPase family; cd01850"
                     /db_xref="CDD:206649"
     Site            18..26
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206649"
     Site            20
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206649"
     Site            43..46
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206649"
     Site            order(45..55,56..81,83..90)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206649"
     Site            124..127
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206649"
     Site            179..181
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206649"
     CDS             1..380
                     /gene="SEPTIN8"
                     /gene_synonym="SEP2; SEPT8"
                     /coded_by="XM_017009259.1:488..1630"
                     /db_xref="GeneID:23176"
                     /db_xref="HGNC:HGNC:16511"
                     /db_xref="MIM:608418"
ORIGIN      
        1 mntlfnttfe teeashheac vrlrpqtydl qesnvqlklt ivdavgfgdq inkderpivd
       61 yidaqfenyl qeelkirrsl fdyhdtrihv clyfitptgh slksldlvtm kkldskvnii
      121 piiakadtis kselhkfkik imgelvsngv qiyqfptdde avaeinavmn ahlpfavvgs
      181 teevkvgnkl vrarqypwgv vqvenenhcd fvklremlir vnmedlreqt hsrhyelyrr
      241 ckleemgfqd sdgdsqpfsl qetyeakrke flselqrkee emrqmfvnkv ketelelkek
      301 erelhekfeh lkrvhqeekr kveekrrele eetnafnrrk aavealqsqa lhatsqqplr
      361 kdkdkkkasg wssiysvtip
//
LOCUS       XP_047273260             416 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA1-A complex subunit RAP80 isoform X5 [Homo sapiens].
ACCESSION   XP_047273260
VERSION     XP_047273260.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417304.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..416
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..416
                     /product="BRCA1-A complex subunit RAP80 isoform X5"
                     /calculated_mol_wt=45986
     CDS             1..416
                     /gene="UIMC1"
                     /gene_synonym="RAP80; X2HRIP110"
                     /coded_by="XM_047417304.1:29..1279"
                     /db_xref="GeneID:51720"
                     /db_xref="HGNC:HGNC:30298"
                     /db_xref="MIM:609433"
ORIGIN      
        1 mlplpdldlw pldrlpspik rkpqtlgslk necgqgeqas eknecisedm gdedkeerqe
       61 srasdwhskt kdfqessiks lkekllleee pttshgqssq giveetseeg nsvpasqsva
      121 altskrslvl mpessaeeit vcpetqlsss etfdlerevs pgsrdildgv riimadkevg
      181 nkedaekeva istfsssnqv scplcdqcfp ptkierhamy cnglmeedtv ltrrqkeakt
      241 ksdsgtaaqt sldidknekc ylckslvpfr eyqchvdscl qlakadqgdg pegsgracst
      301 vegkwqqrlk npkekghseg rllsfleqse hktsdadiks setgafrvps pgmeeagcsr
      361 emqssftrrd lnespvksfv siseatdclv dfkkqvtvqp gsrtrtkagr grrrkf
//
LOCUS       XP_047275063            1193 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G-protein coupled receptor G6 isoform X10 [Homo sapiens].
ACCESSION   XP_047275063
VERSION     XP_047275063.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419107.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1193
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1193
                     /product="adhesion G-protein coupled receptor G6 isoform
                     X10"
                     /calculated_mol_wt=133481
     Region          43..146
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(49,51,53,80,85,119,143,145)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Region          153..337
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cl22861"
                     /db_xref="CDD:451433"
     Site            order(210,296,298,301)
                     /site_type="active"
                     /note="calcium mediated ligand binding site [active]"
                     /db_xref="CDD:238086"
     Region          773..818
                     /region_name="GPS"
                     /note="GPCR proteolysis site, GPS, motif; pfam01825"
                     /db_xref="CDD:426458"
     Region          833..1101
                     /region_name="7tm_GPCRs"
                     /note="seven-transmembrane G protein-coupled receptor
                     superfamily; cl28897"
                     /db_xref="CDD:452889"
     Region          836..860
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:410628"
     Region          870..891
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:410628"
     Region          903..925
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:410628"
     Region          945..961
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:410628"
     Region          990..1013
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:410628"
     Region          1039..1061
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:410628"
     Region          1065..1090
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:410628"
     CDS             1..1193
                     /gene="ADGRG6"
                     /gene_synonym="APG1; DREG; GPR126; LCCS9; PR126; PS1TP2;
                     STQTL1; VIGR"
                     /coded_by="XM_047419107.1:65..3646"
                     /db_xref="GeneID:57211"
                     /db_xref="HGNC:HGNC:13841"
                     /db_xref="MIM:612243"
ORIGIN      
        1 mfrsdrmwsc hwkwkpspll flfalyimcv phsavwgcan crvvlsnpsg tftspcypnd
       61 ypnsqacmwt lraptgyiiq itfndfdiee apnciydsls ldngesqtkf cgatakglsf
      121 nssanemhvs fssdfsiqkk gfnasyirva vslrnqkvil pqtsdayqvs vaksisipel
      181 saftlcfeat kvghedsdwt afsysnasft qllsfgkaks gyflsisdsk cllnnalpvk
      241 ekedifaesf eqlclvwnns lgsigvnfkr nyetvpcdst iskvipgngk lllgsnqnei
      301 vslkgdiynf rlwnftmnak ilsnlscnvk gnvvdwqndf wnipnlalka esnlscgsyl
      361 iplpaaelas cadlgtlcqd giiyrisvvi qnilrhpevk vqskvaewln stfqnwnytv
      421 yvvnisfhls agedkikvkr sledeprlvl wallvynatn ntnlegkiiq qkllknnesl
      481 deglrlhtvn vrqlghclam eepkgyywps iqpseyvlpc pdkpgfsasr icfynatnpl
      541 vtywgpvdis nclkeaneva nqilnltadg qnltsanitn iveqvkrivn keeniditlg
      601 stlmnifsni lsssdsdlle sssealktid elafkidlns tshvnittrn lalsvssllp
      661 gtnaisnfsi glpsnnesyf qmdfesgqvd plasvilppn llenlspeds vlvrraqftf
      721 fnktglfqdv gpqrktlvsy vmacsignit iqnlkdpvqi kikhtrtqev hhpicafwdl
      781 nknksfggwn tsgcvahrds dasetvclcn hfthfgvlmd lprsasqlda rntkvltfis
      841 yigcgisaif saatlltyva feklrrdyps kilmnlstal lflnllflld gwitsfnvdg
      901 lciavavllh ffllatftwm gleaihmyia lvkvfntyir ryilkfciig wglpalvvsv
      961 vlasrnnnev ygkesygkek gdefcwiqdp vifyvtcagy fgvmfflnia mfivvmvqic
     1021 grngkrsnrt lreevlrnlr svvsltfllg mtwgfaffaw gplnipfmyl fsifnslqgl
     1081 fififhcamk envqkqwrqh lccgrfrlad nsdwsktatn iikkssdnlg kslssssigs
     1141 nstyltsksk sssttyfkrn shtdnvsyeh sfnksgslrq cfhgqvlvkt gpc
//
LOCUS       XP_047275942             477 aa            linear   PRI 20-MAR-2023
DEFINITION  ETS translocation variant 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047275942
VERSION     XP_047275942.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419986.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..477
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..477
                     /product="ETS translocation variant 1 isoform X2"
                     /calculated_mol_wt=55000
     Region          1..333
                     /region_name="ETS_PEA3_N"
                     /note="PEA3 subfamily ETS-domain transcription factor N
                     terminal domain; pfam04621"
                     /db_xref="CDD:428040"
     Region          334..418
                     /region_name="ETS"
                     /note="erythroblast transformation specific domain;
                     smart00413"
                     /db_xref="CDD:197710"
     CDS             1..477
                     /gene="ETV1"
                     /gene_synonym="ER81"
                     /coded_by="XM_047419986.1:556..1989"
                     /db_xref="GeneID:2115"
                     /db_xref="HGNC:HGNC:3490"
                     /db_xref="MIM:600541"
ORIGIN      
        1 mdgfydqqvp ymvtnsqrgr ncnekptnvr krkfinrdla hdseelfqdl sqlqetwlae
       61 aqvpdndeqf vpdyqaesla fhglplkikk ephspcseis sacsqeqpfk fsygekclyn
      121 vsaydqkpqv gmrpsnpptp sstpvsplhh aspnsthtpk pdrafpahlp psqsipdssy
      181 pmdhrfrrql sepcnsfppl ptmpregrpm yqrqmsepni pfppqgfkqe yhdpvyehnt
      241 mvgsaasqsf ppplmikqep rdfaydsevp schsiymrqe gflahpsrte gcmfekgprq
      301 fyddtcvvpe kfdgdikqep gmyregptyq rrgslqlwqf lvallddpsn shfiawtgrg
      361 mefkliepee varrwgiqkn rpamnydkls rslryyyekg imqkvagery vykfvcdpea
      421 lfsmafpdnq rpllktdmer hineedtvpl shfdesmaym peggccnphp ynegyvy
//
LOCUS       XP_011542782             579 aa            linear   PRI 20-MAR-2023
DEFINITION  disintegrin and metalloproteinase domain-containing protein 2
            isoform X3 [Homo sapiens].
ACCESSION   XP_011542782
VERSION     XP_011542782.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544480.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..579
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..579
                     /product="disintegrin and metalloproteinase
                     domain-containing protein 2 isoform X3"
                     /calculated_mol_wt=64665
     Region          26..141
                     /region_name="Pep_M12B_propep"
                     /note="Reprolysin family propeptide; pfam01562"
                     /db_xref="CDD:426325"
     Region          <170..249
                     /region_name="Reprolysin"
                     /note="Reprolysin (M12B) family zinc metalloprotease;
                     pfam01421"
                     /db_xref="CDD:426256"
     Region          267..344
                     /region_name="DISIN"
                     /note="Homologues of snake disintegrins; smart00050"
                     /db_xref="CDD:214490"
     Region          346..453
                     /region_name="ACR"
                     /note="ADAM Cysteine-Rich Domain; smart00608"
                     /db_xref="CDD:214743"
     CDS             1..579
                     /gene="ADAM2"
                     /gene_synonym="CRYN1; CRYN2; CT15; FTNB; PH-30b; PH30;
                     PH30-beta"
                     /coded_by="XM_011544480.1:43..1782"
                     /db_xref="GeneID:2515"
                     /db_xref="HGNC:HGNC:198"
                     /db_xref="MIM:601533"
ORIGIN      
        1 mwrvlfllsg lgglrmdsnf dslpvqitvp ekirsiikeg iesqasykiv iegkpytvnl
       61 mqknflphnf rvysysgtgi mkpldqdfqn fchyqgyieg ypksvvmvst ctglrgvlqf
      121 envsygiepl essvgfehvi yqvkhkkadv slynekdies rdlsfklqsv ehprtisles
      181 lavilaqlls lsmgityddi nkcqcsgavc imnpeaihfs gvkifsncsf edfahfiskq
      241 ksqclhnqpr ldpffkqqav cgnakleage ecdcgteqdc aligetccdi atcrfkagsn
      301 caegpccenc lfmskermcr psfeecdlpe ycngssascp enhyvqtghp cglnqwicid
      361 gvcmsgdkqc tdtfgkevef gpsecyshln sktdvsgncg isdsgytqce adghlciave
      421 fasdhadsqk mwikdgtscg snkvcrnqrc vsssylgydc ttdkcndrgv cnnkkhchcs
      481 asylppdcsv qsdlwpggsi dsgnfppvai parlperryi eniyhskpmr wpfflfipff
      541 iifcvliaim vkvnfqrkkw rtedyssdeq pesesepkg
//
LOCUS       XP_054193727             565 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquilin-4 isoform X1 [Homo sapiens].
ACCESSION   XP_054193727
VERSION     XP_054193727.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337752.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..565
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..565
                     /product="ubiquilin-4 isoform X1"
                     /calculated_mol_wt=59938
     CDS             1..565
                     /gene="UBQLN4"
                     /gene_synonym="A1U; A1Up; C1orf6; CIP75; UBIN"
                     /coded_by="XM_054337752.1:98..1795"
                     /db_xref="GeneID:56893"
                     /db_xref="HGNC:HGNC:1237"
                     /db_xref="MIM:605440"
ORIGIN      
        1 maepsgaetr ppirvtvktp kdkeeivicd rasvkefkee isrrfkaqqd qlvlifagki
       61 lkdgdtlnqh gikdgltvhl viktpqkaqd paaatassps tpdpasapst tpaspatpaq
      121 pstsgsassd agsgsrrssg ggpspgageg spsatasils gfggilglgs lglgsanfme
      181 lqqqmqrqlm snpemlsqim enplvqdmms npdlmrhmim anpqmqqlme rnpeishmln
      241 npelmrqtme larnpammqe mmrnqdrals nlesipggyn alrrmytdiq epmfsaareq
      301 fgnnpfssla gnsdssssqp lrtenreplp npwspsppts qapgsggegt ggsgtsqvhp
      361 tvsnpfgina aslgsgmfns pemqallqqi senpqlmqnv isapymrsmm qtlaqnpdfa
      421 aqmmvnvplf agnpqlqeql rlqlpvflqq mqnpeslsil tnpramqall qiqqglqtlq
      481 teapglvpsl gsfgisrtpa psagsnagst peaptsspat patssptgas saqqqlmqqm
      541 iqllagsgns qsfpwspvei wtith
//
LOCUS       XP_054195567             676 aa            linear   PRI 20-MAR-2023
DEFINITION  nexilin isoform X1 [Homo sapiens].
ACCESSION   XP_054195567
VERSION     XP_054195567.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339592.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..676
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..676
                     /product="nexilin isoform X1"
                     /calculated_mol_wt=80693
     CDS             1..676
                     /gene="NEXN"
                     /gene_synonym="CMH20; NELIN"
                     /coded_by="XM_054339592.1:189..2219"
                     /db_xref="GeneID:91624"
                     /db_xref="HGNC:HGNC:29557"
                     /db_xref="MIM:613121"
ORIGIN      
        1 mndisqkaei llssskpvpk tyvpklgkgd vkdkfeamqr areernqrrs rdekqrrkeq
       61 yirerewnrr kqeikemlas ddeedvsskv ekayvpkltg tvkgrfaeme kqrqeeqrkr
      121 teeerkrrie qdmlekrkiq relakraeqi edinntgtes aseegddsll itvvpvksyk
      181 tsgkmkknfe dlekereeke rikyeedkri ryeeqrpslk eakclslvmd deieseakke
      241 slspgklklt feelerqrqe nrkkqaeeea rkrleeekra feearrqmvn edeenqdtak
      301 ifkgyrpgkl klsfeemerq rredekrkae eearrrieee kkafaearrn mvvdddspem
      361 yktisqeflt pgkleinfee llkqkmeeek rrteeerkhk lemekqefeq lrqemgeeee
      421 enetfglsre yeeliklkrs gsiqaknlks kfekigqlse keiqkkieee rarrraidle
      481 ikereaenfh eeddvdvrpa rkseapfthk vnmkarfeqm akareeeeqr rieeqkllrm
      541 qfeqreidaa lqkkreeeee eegsimngst aedeeqtrsg apwfkkplkn tsvvdsepvr
      601 ftvkvtgepk peitwwfege ilqdgedyqy iergetycly lpetfpedgg eymckavnnk
      661 gsaastcilt ietddy
//
LOCUS       XP_054223048             924 aa            linear   PRI 20-MAR-2023
DEFINITION  neuropilin-1 isoform X1 [Homo sapiens].
ACCESSION   XP_054223048
VERSION     XP_054223048.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367073.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..924
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..924
                     /product="neuropilin-1 isoform X1"
                     /calculated_mol_wt=103047
     CDS             1..924
                     /gene="NRP1"
                     /gene_synonym="BDCA4; CD304; NP1; NRP; VEGF165R"
                     /coded_by="XM_054367073.1:524..3298"
                     /db_xref="GeneID:8829"
                     /db_xref="HGNC:HGNC:8004"
                     /db_xref="MIM:602069"
ORIGIN      
        1 merglpllca vlalvlapag afrndkcgdt ikiespgylt spgyphsyhp sekcewliqa
       61 pdpyqrimin fnphfdledr dckydyvevf dgenenghfr gkfcgkiapp pvvssgpflf
      121 ikfvsdyeth gagfsiryei fkrgpecsqn yttpsgviks pgfpekypns lectyivfap
      181 kmseiilefe sfdlepdsnp pggmfcrydr leiwdgfpdv gphigrycgq ktpgrirsss
      241 gilsmvfytd saiakegfsa nysvlqssvs edfkcmealg mesgeihsdq itassqystn
      301 wsaersrlny pengwtpged syrewiqvdl gllrfvtavg tqgaisketk kkyyvktyki
      361 dvssngedwi tikegnkpvl fqgntnptdv vvavfpkpli trfvrikpat wetgismrfe
      421 vygckitdyp csgmlgmvsg lisdsqitss nqgdrnwmpe nirlvtsrsg walppaphsy
      481 inewlqidlg eekivrgiii qggkhrenkv fmrkfkigys nngsdwkmim ddskrkaksf
      541 egnnnydtpe lrtfpalstr firiyperat hgglglrmel lgceveapta gpttpngnlv
      601 decdddqanc hsgtgddfql tggttvlate kptvidstiq sefptygfnc efgwgshktf
      661 chwehdnhvq lkwsvltskt gpiqdhtagd gnfiysqade nqkgkvarlv spvvysqnsa
      721 hcmtfwyhms gshvgtlrvk lryqkpeeyd qlvwmaighq gdhwkegrvl lhkslklyqv
      781 ifegeigkgn lggiavddis innhisqedc akpadldkkn peikidetgs tpgyegegeg
      841 dknisrkpgn vlktldpili tiiamsalgv llgavcgvvl ycacwhngms ernlsaleny
      901 nfelvdgvkl kkdklntqst ysea
//
LOCUS       XP_054231432             318 aa            linear   PRI 20-MAR-2023
DEFINITION  probable sodium-coupled neutral amino acid transporter 6 isoform
            X11 [Homo sapiens].
ACCESSION   XP_054231432
VERSION     XP_054231432.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375457.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..318
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..318
                     /product="probable sodium-coupled neutral amino acid
                     transporter 6 isoform X11"
                     /calculated_mol_wt=35206
     CDS             1..318
                     /gene="SLC38A6"
                     /gene_synonym="NAT-1; SNAT6"
                     /coded_by="XM_054375457.1:34..990"
                     /db_xref="GeneID:145389"
                     /db_xref="HGNC:HGNC:19863"
                     /db_xref="MIM:616518"
ORIGIN      
        1 measwgsfna ergwyvsvqq peeaeaeels pllsnelhrq rspgvsfgls vfnlmnaimg
       61 sgilglayvm antgvfgfsf llltvallas ysvhlllsmc iqtavtsyed lglfafglpg
      121 klvvagtiii qnigamssyl liiktelpaa iaefltgdys rywyldgqtl liiicvgivf
      181 plallpkigf lgytsslsff fmmffalvvi ikkwsipcpl tlnyvekgfq isnvtddckp
      241 klfhfskesa yalptmafsf lchtsilpiy celqspskkr mqnvtntaia lsfliyfisa
      301 lfgyltfyde qlkprevk
//
LOCUS       XP_054232560             138 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/arginine-rich splicing factor 5 isoform X4 [Homo sapiens].
ACCESSION   XP_054232560
VERSION     XP_054232560.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376585.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..138
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..138
                     /product="serine/arginine-rich splicing factor 5 isoform
                     X4"
                     /calculated_mol_wt=15679
     CDS             1..138
                     /gene="SRSF5"
                     /gene_synonym="HRS; SFRS5; SRP40"
                     /coded_by="XM_054376585.1:1201..1617"
                     /db_xref="GeneID:6430"
                     /db_xref="HGNC:HGNC:10787"
                     /db_xref="MIM:600914"
ORIGIN      
        1 msgcrvfigr lnpaarekdv erffkgygri rdidlkrgfg fvefedprda ddavyeldgk
       61 elcservtie hararsrggr grgrysdrfs srrprndrrn appvrtenrl ivenlssrvs
      121 wqpvcvvglm trsacgls
//
LOCUS       XP_054235898             992 aa            linear   PRI 20-MAR-2023
DEFINITION  protein CLEC16A isoform X7 [Homo sapiens].
ACCESSION   XP_054235898
VERSION     XP_054235898.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379923.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..992
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..992
                     /product="protein CLEC16A isoform X7"
                     /calculated_mol_wt=111061
     CDS             1..992
                     /gene="CLEC16A"
                     /gene_synonym="Gop-1; KIAA0350"
                     /coded_by="XM_054379923.1:155..3133"
                     /db_xref="GeneID:23274"
                     /db_xref="HGNC:HGNC:29013"
                     /db_xref="MIM:611303"
ORIGIN      
        1 mfgrsrswvg gghgktsrni hsldhlkyly hvltknttvt eqnrnllvet irsiteiliw
       61 gdqndssvfd ffleknmfvf flnilrqksg ryvcvqllqt lnilfenish etslyyllsn
      121 nyvnsiivhk fdfsdeeima yyisflktls lklnnhtvhf fynehtndfa lyteaikffn
      181 hpesmvriav rtitlnvykv dnqamlhyir dktavpyfsn lvwfigshvi elddcvqtde
      241 ehrnrgklsd lvaehldhlh ylndiliinc eflndvltdh llnrlflply vyslenqdkg
      301 gerpkislpv slyllsqvfl iihhaplvns laevilngdl semyakteqd iqrssakpsi
      361 rcfikptetl erslemnkhk gkrrvqkrpn yknvgeeede ekgptedaqe daekakeiem
      421 vimersklse laastsvqeq nttdeeksaa atcsestqws rpfldmvyha ldspdddyha
      481 lfvlcllyam shnkgmdpek leriqlpvpn aaekttynhp laerlirimn naaqpdgkir
      541 latlelscll lkqqvlmsag cimkdvhlac legareesvh lvrhfykged ifldmfedey
      601 rsmtairvff mlrslslqlr gepetqlplt reedliktdd vldlnnsdli actvitkdgg
      661 mvqrflavdi yqmslvepdv srlgwgvvkf agllqdmqvt gveddsraln itihkpassp
      721 hskpfpilqa tfifsdhirc iiakqrlakg riqarrmkmq riaalldlpi qpttevlgfg
      781 lgsststqhl pfrfydqgrr gssdptvqrs vfasvdkvpg favaqcinqh sspslssqsp
      841 psasgspsgs gstshcdsgg tsssstpsta qspadapmsp elpkphlpdq lvivnetead
      901 skpsknvars aavetaslsp slvparqpti sllcedtadt lsvesltlvp pvdphslrsl
      961 tgmpplstpa aactepvgee aacaepvgta ed
//
LOCUS       XP_054169603             486 aa            linear   PRI 20-MAR-2023
DEFINITION  dipeptidase 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054169603
VERSION     XP_054169603.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313628.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..486
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..486
                     /product="dipeptidase 2 isoform X3"
                     /calculated_mol_wt=53234
     CDS             1..486
                     /gene="DPEP2"
                     /gene_synonym="MBD2"
                     /coded_by="XM_054313628.1:132..1592"
                     /db_xref="GeneID:64174"
                     /db_xref="HGNC:HGNC:23028"
                     /db_xref="MIM:609925"
ORIGIN      
        1 mqpsglegpg tfgrwpllsl lllllllqpv tcayttpgpp ralttlgapr ahtmpgtyap
       61 sttlsspstq glqeqaralm rdfplvdghn dlplvlrqvy qkglqdvnlr nfsygqtsld
      121 rlrdglvgaq fwsayvpcqt qdrdalrltl eqidlirrmc asyselelvt sakalndtqk
      181 lacligvegg hsldnslsil rtfymlgvry ltlthtcntp waessakgvh sfynnisglt
      241 dfgekvvaem nrlgmmvdls hvsdavarra levsqapvif shsaargvcn sarnvpddil
      301 qllkknggvv mvslsmgviq cnpsanvstv adhfdhikav igskfigigg dydgagkfpq
      361 gledvstypv lieellsrgw seeelqgvlr gnllrvfrqv ekvqeenkwq spledkfpde
      421 qlssschsdl srlrqrqslt sgqelteipi hwtaklpakw svsessphma pvlavvatfp
      481 vlilwl
//
LOCUS       XP_054173929            2337 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor corepressor 1 isoform X36 [Homo sapiens].
ACCESSION   XP_054173929
VERSION     XP_054173929.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317954.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2337
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2337
                     /product="nuclear receptor corepressor 1 isoform X36"
                     /calculated_mol_wt=258472
     CDS             1..2337
                     /gene="NCOR1"
                     /gene_synonym="hN-CoR; N-CoR; N-CoR1; PPP1R109; TRAC1"
                     /coded_by="XM_054317954.1:244..7257"
                     /db_xref="GeneID:9611"
                     /db_xref="HGNC:HGNC:7672"
                     /db_xref="MIM:600849"
ORIGIN      
        1 msssgyppnq gafsteqsry pphsvqytfp ntrhqqefav pdyrsshlev sqasqllqqq
       61 qqqqlrrrps llsefhpgsd rpqerrtsye pfhpgpspvd hdsleskrpr leqvsdshfq
      121 rvsaavlplv hplpeglras adakkdpafg gkheapsspi sgqpcgddqn aspsklskee
      181 liqsmdrvdr eiakveqqil klkkkqqqle eeaakppepe kpvspppveq khrsivqiiy
      241 denrkkaeea hkifeglgpk velplynqps dtkvyhenik tnqvmrkkli lffkrrnhar
      301 kqreqkicqr ydqlmeawek kvdriennpr rkakesktre yyekqfpeir kqreqqerfq
      361 rvgqrgagls atiarsehei seiidglseq ennekqmrql svippmmfda eqrrvkfinm
      421 nglmedpmkv ykdrqfmnvw tdhekeifkd kfiqhpknfg liasylerks vpdcvlyyyl
      481 tkknenykal vrrnygkrrg rnqqiarpsq eekveekeed kaektekkee ekkdeeekde
      541 kedskentke kdkidgtaee teereqatpr grktansqgr rkgritrsmt neaaaasaaa
      601 aaateepppp lppppepist epvetsrwte eemevakkgl vehgrnwaai akmvgtksea
      661 qcknfyfnyk rrhnldnllq qhkqktsrkp reerdvsqce svastvsaqe dedieasnee
      721 enpedsegae nssdtesaps pspveavkps edspenatsr gntepavele pttetapsts
      781 pslavpstkp aedesvetqv ndsisaetae qmdvdqqehs aeegsvcdpp patkadsvdv
      841 evrvpenhas kvegdntker dldrasekve prdedlvvaq qinaqrpepq sdndssatcs
      901 adedvdgepe rqrmfpmdsk psllnptgsi lvssplkpnp ldlpqlqhra avippmvsct
      961 pcnipigtpv sgyalyqrhi kamhesalle eqrqrqeqid lecrsstspc gtskspnrew
     1021 evlqpaphqv itnlpegvrl pttrptrppp plipsskttv asekpsfimg gsisqgtpgt
     1081 yltshnqasy tqetpkpsvg sislglprqq esaksatlpy ikqeefsprs qnsqpegllv
     1141 raqhegvvrg tagaiqegsi trgtptskis vesipslrgs itqgtpalpq tgiptealvk
     1201 gsisrmpied sspekgreea askghviyeg ksghilsydn iknaregtrs prtaheislk
     1261 rsyesvegni kqgmsmresp vsapleglic ralprgsphs dlkertvlsg simqgtprat
     1321 tesfedglky pkqikrespp irafegaitk gkpydgitti kemgrsihei prqdiltqes
     1381 rktpevvqst rpiiegsisq gtpikfdnns gqsaikhnvk slitgpskls rgmppleivp
     1441 enikvvergk yedvkagetv rsrhtsvvss gpsvlrstlh eapkaqlspg iyddtsarrt
     1501 pvsyqntmsr gspmmnrtsd vtissnkstn herkstltpt qresipaksp vpgvdpvvsh
     1561 spfdphhrgs tagevyrshl pthldpampf hraldpaaaa ylfqrqlspt pgypsqyqly
     1621 amentrqtil ndyitsqqmq vnlrpdvarg lspreqplgl pypatrgiid ltnmpptilv
     1681 phpggtstpp mdrityipgt qitfpprpyn sasmspghpt hlaaaasaer ererereker
     1741 ereriaaass dlylrpgseq pgrpgshgyv rspspsvrtq etmlqqrpsv fqgtngtsvi
     1801 tpldptaqlr implpaggps isqglpasry ntaadalaal vdaaasapqm dvsktkeiss
     1861 hryetpsdai evispasspa ppqeklqtyq pevvkanqae ndptrqyegp lhhyrpqqes
     1921 pspqqqlpps sqaegmgqvp rthrlitlad hicqiitqdf arnqvssqtp qqpptstfqn
     1981 spsalvstpv rtktsnrysp esqaqsvhhq rpgsrvspen lvdksrgsrp gkspershvs
     2041 sepyepispp qvpvvhekqd sllllsqrga epaeqrndar spgsisylps fftklentsp
     2101 mvkskkqeif rklnssgggd sdmaaaqpgt eifnlpavtt sgsvssrghs fadpasnlgl
     2161 ediirkalmg sfddkvedhg vvmsqpmgvv pgtantsvvt sgetrreegd psphsggvck
     2221 pklisksnsr kskspipgqg ylgterpssv ssvhsegdyh rqtpgwawed rpsstgstqf
     2281 pynpltmrml sstpptpiac apsavnqaap hqqnriwere papllsaqye tlsdsdd
//
LOCUS       XP_054176241             425 aa            linear   PRI 20-MAR-2023
DEFINITION  caspase recruitment domain-containing protein 8 isoform X12 [Homo
            sapiens].
ACCESSION   XP_054176241
VERSION     XP_054176241.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320266.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..425
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..425
                     /product="caspase recruitment domain-containing protein 8
                     isoform X12"
                     /calculated_mol_wt=47714
     CDS             1..425
                     /gene="CARD8"
                     /gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
                     /coded_by="XM_054320266.1:407..1684"
                     /db_xref="GeneID:22900"
                     /db_xref="HGNC:HGNC:17057"
                     /db_xref="MIM:609051"
ORIGIN      
        1 mekkecpeks ssseeelprr vyrelpcvse tlcdishffq eddeteaepl liravpecql
       61 sggdipsvse eqessegqds gdicseenqi vssyaskvcf eieedyknrq flgpegnvdv
      121 elidkstnry svwfptagwy lwsatglgfl vrdevtvtia fgswsqhlal dlqhheqwlv
      181 ggplfdvtae peeavaeihl phfislqgev dvswflvahf knegmvlehp arvepfyavl
      241 espsfslmgi llriasgtrl sipitsntli yyhphpedik fhlylvpsda lltkaiddee
      301 drfhgvrlqt sppmeplnfg ssyivsnsan lkvmpkelkl syrspgeiqh fskfyagqmk
      361 epiqleitek rhgtlvwdte vkpvdlqlva asapppfsgv rmwpgccpil prtgctclcl
      421 npwlp
//
LOCUS       XP_054176870             898 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin enhancer-binding factor 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054176870
VERSION     XP_054176870.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320895.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..898
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..898
                     /product="interleukin enhancer-binding factor 3 isoform
                     X1"
                     /calculated_mol_wt=95677
     CDS             1..898
                     /gene="ILF3"
                     /gene_synonym="CBTF; DRBF; DRBP76; MMP4; MPHOSPH4; MPP4;
                     MPP4110; NF-AT-90; NF110; NF110b; NF90; NF90a; NF90b;
                     NF90c; NF90ctv; NFAR; NFAR-1; NFAR-2; NFAR110; NFAR2;
                     NFAR90; TCP110; TCP80"
                     /coded_by="XM_054320895.1:2153..4849"
                     /db_xref="GeneID:3609"
                     /db_xref="HGNC:HGNC:6038"
                     /db_xref="MIM:603182"
ORIGIN      
        1 mrpmrifvnd drhvmakhss vyptqeelea vqnmvshter alkavsdwid eqekgsseqa
       61 esdnmdvppe ddskegageq ktehmtrtlr gvmrvglvak glllkgdldl elvllckekp
      121 ttalldkvad nlaiqlaavt edkyeilqsv ddaaiviknt kepplsltih ltspvvreem
      181 ekvlagetls vndppdvldr qkclaalasl rhakwfqara nglkscvivi rvlrdlctrv
      241 ptwgplrgwp lellceksig tanrpmgage alrrvlecla sgivmpdgsg iydpcekeat
      301 daighldrqq reditqsaqh alrlaafgql hkvlgmdplp skmpkkpkne npvdytvqip
      361 psttyaitpm krpmeedgee kspskkkkki qkkeekaepp qamnalmrln qlkpglqykl
      421 vsqtgpvhap iftmsvevdg nsfeasgpsk ktaklhvavk vlqdmglptg aegrdsskge
      481 dsaeeteakp avvapapvve avstpsaafp sdataenvkq qgpiltkhgk npvmelnekr
      541 rglkyelise tggshdkrfv mevevdgqkf qgagsnkkva kayaalaale klfpdtplal
      601 dankkkrapv pvrggpkfaa kphnpgfgmg gpmhnevppp pnlrgrgrgg sirgrgrgrg
      661 fgganhggym nagagygsyg yggnsatagy sqfysngghs gnasgggggg gggssgygsy
      721 yqgdnynspv ppkhagkkqp hggqqkpsyg sgyqshqgqq qsynqspysn ygppqgkqkg
      781 ynhgqgsysy snsynspggg ggsdynyesk fnysgsggrs ggnsygsgga synpgshggy
      841 gggsgggssy qgkqggysqs nynspgsgqn ysgppssyqs sqggygrnad hsmnyqyr
//
LOCUS       XP_054199728             397 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase VRK2 isoform X2 [Homo sapiens].
ACCESSION   XP_054199728
VERSION     XP_054199728.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343753.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 26% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..397
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..397
                     /product="serine/threonine-protein kinase VRK2 isoform X2"
                     /calculated_mol_wt=44885
     CDS             1..397
                     /gene="VRK2"
                     /coded_by="XM_054343753.1:69..1262"
                     /db_xref="GeneID:7444"
                     /db_xref="HGNC:HGNC:12719"
                     /db_xref="MIM:602169"
ORIGIN      
        1 mppkrnekyk lpipfpegkv lddmegnqwv lgkkigsggf gliylafptn kpekdarhvv
       61 kveyqengpl fselkfyqrv akkdcikkwi erkqldylgi plfygsglte fkgrsyrfmv
      121 merlgidlqk isgqngtfkk stvlqlgirm ldvleyihen eyvhgdvkaa nlllgyknpd
      181 qvyladygls yrycpngnhk qyqenprkgh ngtieftsld ahkgvalsrr sdveilgycm
      241 lrwlcgklpw eqnlkdpvav qtaktnllde lpqsvlkwap sgsscceiaq flvcahslay
      301 dekpnyqalk kilnphgipl gpldfstkgq sinvhtpnsq kvdsqkaatk qvnkahnrli
      361 ekkvhsersa escatwkvqk eekliglmnn eaaqvea
//
LOCUS       XP_054203541             190 aa            linear   PRI 20-MAR-2023
DEFINITION  short stature homeobox protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054203541
VERSION     XP_054203541.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347566.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..190
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..190
                     /product="short stature homeobox protein 2 isoform X3"
                     /calculated_mol_wt=20867
     CDS             1..190
                     /gene="SHOX2"
                     /gene_synonym="OG12; OG12X; SHOT"
                     /coded_by="XM_054347566.1:568..1140"
                     /db_xref="GeneID:6474"
                     /db_xref="HGNC:HGNC:10854"
                     /db_xref="MIM:602504"
ORIGIN      
        1 medegqtkik qrrsrtnftl eqlnelerlf dethypdafm reelsqrlgl searvqvwfq
       61 nrrakcrkqe nqlhkgvlig aasqfeacrv apyvnvgalr mpfqqvqaql qldsavahah
      121 hhlhphlaah apymmfpapp fglplatlaa dsasaasvva aaaaakttsk nssiadlrlk
      181 akkhaaalgl
//
LOCUS       XP_054205607            2489 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 17 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054205607
VERSION     XP_054205607.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349632.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2489
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2489
                     /product="ankyrin repeat domain-containing protein 17
                     isoform X2"
                     /calculated_mol_wt=263355
     CDS             1..2489
                     /gene="ANKRD17"
                     /gene_synonym="CAGS; GTAR; MASK2; NY-BR-16"
                     /coded_by="XM_054349632.1:31..7500"
                     /db_xref="GeneID:26057"
                     /db_xref="HGNC:HGNC:23575"
                     /db_xref="MIM:615929"
ORIGIN      
        1 mvetaaemea yvledileve sfildqddle npmletaskl llsgtadgad lrtvdpetqa
       61 rlealleaag igklstadgk afadpevlrr ltssvscald eaaaaltrmr aestanagqs
      121 dnrslaeacs egdvnavrkl liegrsvneh teegesllcl acsagyyela qvllamhanv
      181 edrgikgdit plmaaanggh vkivklllah kadvnaqsst gntaltyaca ggyvdvvkvl
      241 lesgasiedh nenghtplme agsaghveva rlllengagi nthsnefkes altlacykgh
      301 lemvrfllea gadqehktde mhtalmeacm dghvevarll ldsgaqvnmp adsfespltl
      361 aacgghvela alliergasl eevndegytp lmeaareghe emvalllgqg aninaqteet
      421 qetaltlacc ggflevadfl ikagadielg cstplmeaaq eghlelvkyl laaganvhat
      481 tatgdtalty acenghtdva dvllqagadl eheseggrtp lmkaaraghv ctvqfliskg
      541 anvnrttann dhtvlslaca gghlavvell lahgadpthr lkdgstmlie aakgghtsvv
      601 cylldypnnl lsapppdvtq ltppshdlnr aprvpvqalp mvvppqepdk ppanvattlp
      661 irnkaaskqk ssshlpansq dvqgyitnqs pesiveeaqg klteleqrik eaieknaqlq
      721 slelahadql tkekieelnk treeqiqkkq kileelqkve relqlktqqq lkkqylevka
      781 qriqlqqqqq qscqhlgllt pvgvgeqlse gdyarlqqvd pvllkdepqq taaqmgfapi
      841 qplampqalp laagplppgs ianltelqgv ivgqpvlgqa qlaglgqgil tetqqglmva
      901 spaqtlndtl ddimavsgra samsntpths iaasisqpqt ptpspiisps amlpiypaid
      961 idaqtesnhd taltlacagg heelvqtlle rgasiehrdk kgftplilaa taghvgvvei
     1021 lldngadiea qsertkdtpl slacsggrqe vvelllarga nkehrnvsdy tplslaasgg
     1081 yvniikilln agaeinsrtg sklgisplml aamnghtaav kllldmgsdi naqietnrnt
     1141 altlacfqgr tevvsllldr kanvehrakt gltplmeaas ggyaevgrvl ldkgadvnap
     1201 pvpssrdtal tiaadkghyk fcelligrga hidvrnkkgn tplwlaangg hldvvqllvq
     1261 agadvdaadn rkitplmaaf rkghvkvvry lvkevnqfps dsecmryiat itdkemlkkc
     1321 hlcmesivqa kdrqaaeank nasilleeld leklreesrr lalaakrekr kekrrkkkee
     1381 qrrkleeiea knkenfelqa aqekeklkve depevltepp satttttigi satwttlags
     1441 hgkrnntitt tsskrknrkn kitpenvqii fddplpisys qpekvngesk ssstsesgds
     1501 dnmrisscsd essnsnssrk sdnhspavvt ttvsskkqps vlvtfpkeer ksvsgkasik
     1561 lsetisegts nslstctksg psplsspngk ltvaspkrgq kreegwkevv rrskkvsvps
     1621 tvisrvigrg gcninairef tgahididkq kdktgdriit irggtestrq atqlinalik
     1681 dpdkeideli pknrlksssa nskigssapt ttaantslmg ikmttvalss tsqtataltv
     1741 paissasthk tiknpvnnvr pgfpvslpla ypppqfahal laaqtfqqir pprlpmthfg
     1801 gtfppaqstw gpfpvrplsp aratnspkph mvprhsnqns sgsqvnsags ltssptttts
     1861 ssastvpgts tngspsspsv rrqlfvtvvk tsnattttvt ttasnnntap tnatypmpta
     1921 kehypvssps spsppaqpgg vsrnspldcg saspnkvass seqeagsppv vettntrppn
     1981 sssssgsssa hsnqqqppgs vsqeprpplq qsqvpppevr mtvpplatss apvavpstap
     2041 vtypmpqtpm gcpqptpkme tpairppphg ttaphknsas vqnssvavls vnhikrphsv
     2101 pssvqlpstl stqsacqnsv hpankpiapn fsaplpfgpf stlfenspts ahafwggsvv
     2161 ssqstpesml sgkssylpns dplhqsdtsk apgfrpplqr papspsgivn mdspygsvtp
     2221 ssthlgnfas nisggqmygp gaplggapaa anfnrqhfsp lslltpcssa sndssaqsvs
     2281 sgvrapspap ssvplgsekp snvsqdrkvp vpigtersar irqtgtsaps vigsnlstsv
     2341 ghsgiwsfeg iggnqdkvdw cnpgmgnpmi hrpmsdpgvf sqhqamerds tgivtpsgtf
     2401 hqhvpagymd fpkvggmpfs vygnamippv apipdgaggp ifngphaadp swnslikmvs
     2461 sstenngpqt vwtgpwaphm nsvhmnqlg
//
LOCUS       XP_054215470             708 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-D-binding Myb-like transcription factor 1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054215470
VERSION     XP_054215470.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359495.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..708
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..708
                     /product="cyclin-D-binding Myb-like transcription factor 1
                     isoform X3"
                     /calculated_mol_wt=79174
     CDS             1..708
                     /gene="DMTF1"
                     /gene_synonym="DMP1; DMTF; hDMP1; MRUL"
                     /coded_by="XM_054359495.1:757..2883"
                     /db_xref="GeneID:9988"
                     /db_xref="HGNC:HGNC:14603"
                     /db_xref="MIM:608491"
ORIGIN      
        1 mstveedsdt vtvetvnsvt ltqdtegnli lhcpqneade idsedsiepp hkrlclssed
       61 dqsiddstpc isvvalplse ndqsfevtmt attevaddev tegtvtqiqi lqneqldeis
      121 plgneevsav sqawfttked kdsltnkghk wkqgmwskee idilmnnier ylkargikda
      181 teiifemskd erkdfyrtia wglnrplfav yrrvlrmydd rnhvgkytpe eieklkelri
      241 khgndwatig aalgrsassv kdrcrlmkdt cntgkwteee ekrlaevvhe ltstepgdiv
      301 tqgvswaava ervgtrsekq crskwlnyln wkqsggtewt kedeinlilr iaeldvaden
      361 dinwdllaeg wssvrspqwl rskwwtikrq ianhkdvsfp vlikglkqlh enqknnptll
      421 enksgsgvpn sntnssvqhv qirvarledn taissspmaa lqipvqithv ssadspatvd
      481 setitlnsgt lqtfeilpsf hlqptgtpgt yllqtsssqg lpltltaspt vtltaaapas
      541 peqiivhals pehllntsdn vtvqchtprv iiqtvatedi tssisqaelt vdsdiqssdf
      601 peppdalead tfpdeihhpk mtvepsfnda hvskfsdqns telmnsvmvr teeeisdtdl
      661 kqeespsdla sayvteipys niirknqisl dhpwavlfqk iqrmskiw
//
LOCUS       XP_054216745             193 aa            linear   PRI 20-MAR-2023
DEFINITION  1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon isoform X2
            [Homo sapiens].
ACCESSION   XP_054216745
VERSION     XP_054216745.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360770.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..193
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..193
                     /product="1-acyl-sn-glycerol-3-phosphate acyltransferase
                     epsilon isoform X2"
                     /calculated_mol_wt=22204
     CDS             1..193
                     /gene="AGPAT5"
                     /gene_synonym="1AGPAT5; LPAATE; LPLAT5"
                     /coded_by="XM_054360770.1:28..609"
                     /db_xref="GeneID:55326"
                     /db_xref="HGNC:HGNC:20886"
                     /db_xref="MIM:614796"
ORIGIN      
        1 mllslvlhty smryllpsvv llgtaptyvl awgvwrllsa flparfyqal ddrlycvyqs
       61 mvlfffenyt gvqillygdl pknkeniiyl anhqstvdwi vadilairqn alghvryvlk
      121 eglkwlplyg cyfaqhggiy vkrsakfnek emrnklqsyv dagtpnfsak nvqkfiftli
      181 vstkkmsqkn kni
//
LOCUS       NP_001399741             837 aa            linear   PRI 24-MAR-2023
DEFINITION  zinc fingers and homeoboxes protein 2 isoform 1 [Homo sapiens].
ACCESSION   NP_001399741
VERSION     NP_001399741.1
DBSOURCE    REFSEQ: accession NM_001412812.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 837)
  AUTHORS   Xie H, Zhou J, Liu X, Xu Y, Hepperla AJ, Simon JM, Wang T, Yao H,
            Liao C, Baldwin AS, Gong K and Zhang Q.
  TITLE     USP13 promotes deubiquitination of ZHX2 and tumorigenesis in kidney
            cancer
  JOURNAL   Proc Natl Acad Sci U S A 119 (36), e2119854119 (2022)
   PUBMED   36037364
  REMARK    GeneRIF: USP13 promotes deubiquitination of ZHX2 and tumorigenesis
            in kidney cancer.
REFERENCE   2  (residues 1 to 837)
  AUTHORS   Tan S, Guo X, Li M, Wang T, Wang Z, Li C, Wu Z, Li N, Gao L, Liang
            X and Ma C.
  TITLE     Transcription factor Zhx2 restricts NK cell maturation and
            suppresses their antitumor immunity
  JOURNAL   J Exp Med 218 (9) (2021)
   PUBMED   34279541
  REMARK    GeneRIF: Transcription factor Zhx2 restricts NK cell maturation and
            suppresses their antitumor immunity.
REFERENCE   3  (residues 1 to 837)
  AUTHORS   Cheng A, Guo X, Dai X and Wang Z.
  TITLE     Upregulation of ZHX2 predicts poor prognosis and is correlated with
            immune infiltration in gastric cancer
  JOURNAL   FEBS Open Bio 11 (6), 1785-1798 (2021)
   PUBMED   33837660
  REMARK    GeneRIF: Upregulation of ZHX2 predicts poor prognosis and is
            correlated with immune infiltration in gastric cancer.
REFERENCE   4  (residues 1 to 837)
  AUTHORS   Yu S, Ruan X, Liu X, Zhang F, Wang D, Liu Y, Yang C, Shao L, Liu Q,
            Zhu L, Lin Y and Xue Y.
  TITLE     HNRNPD interacts with ZHX2 regulating the vasculogenic mimicry
            formation of glioma cells via linc00707/miR-651-3p/SP2 axis
  JOURNAL   Cell Death Dis 12 (2), 153 (2021)
   PUBMED   33542193
  REMARK    GeneRIF: HNRNPD interacts with ZHX2 regulating the vasculogenic
            mimicry formation of glioma cells via linc00707/miR-651-3p/SP2
            axis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 837)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (residues 1 to 837)
  AUTHORS   Liu G, Clement LC, Kanwar YS, Avila-Casado C and Chugh SS.
  TITLE     ZHX proteins regulate podocyte gene expression during the
            development of nephrotic syndrome
  JOURNAL   J Biol Chem 281 (51), 39681-39692 (2006)
   PUBMED   17056598
  REMARK    GeneRIF: ZHX proteins 1, 2 and 3 are major transcriptional
            mediators of podocyte disease
            Erratum:[J Biol Chem. 2007 Apr 27;282(17):13140]
REFERENCE   7  (residues 1 to 837)
  AUTHORS   de Andrade TG, Peterson KR, Cunha AF, Moreira LS, Fattori A, Saad
            ST and Costa FF.
  TITLE     Identification of novel candidate genes for globin regulation in
            erythroid cells containing large deletions of the human beta-globin
            gene cluster
  JOURNAL   Blood Cells Mol Dis 37 (2), 82-90 (2006)
   PUBMED   16952470
  REMARK    GeneRIF: ZHX2, a transcriptional repressor, may participate in
            globin gene regulation.
REFERENCE   8  (residues 1 to 837)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   9  (residues 1 to 837)
  AUTHORS   Kawata H, Yamada K, Shou Z, Mizutani T and Miyamoto K.
  TITLE     The mouse zinc-fingers and homeoboxes (ZHX) family; ZHX2 forms a
            heterodimer with ZHX3
  JOURNAL   Gene 323, 133-140 (2003)
   PUBMED   14659886
REFERENCE   10 (residues 1 to 837)
  AUTHORS   Kawata H, Yamada K, Shou Z, Mizutani T, Yazawa T, Yoshino M,
            Sekiguchi T, Kajitani T and Miyamoto K.
  TITLE     Zinc-fingers and homeoboxes (ZHX) 2, a novel member of the ZHX
            family, functions as a transcriptional repressor
  JOURNAL   Biochem J 373 (Pt 3), 747-757 (2003)
   PUBMED   12741956
  REMARK    GeneRIF: identification as a transcriptional repressor
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016405.8 and AC104316.3.
            
            Summary: The members of the zinc fingers and homeoboxes gene family
            are nuclear homodimeric transcriptional repressors that interact
            with the A subunit of nuclear factor-Y (NF-YA) and contain two
            C2H2-type zinc fingers and five homeobox DNA-binding domains. This
            gene encodes member 2 of this gene family. In addition to forming
            homodimers, this protein heterodimerizes with member 1 of the zinc
            fingers and homeoboxes family. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1425112.1,
                                           SRR14038195.2478156.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145240, SAMEA2162841
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..837
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.13"
     Protein         1..837
                     /product="zinc fingers and homeoboxes protein 2 isoform 1"
                     /note="zinc fingers and homeoboxes protein 2;
                     transcription factor ZHX2; AFP regulator 1; regulator of
                     AFP; alpha-fetoprotein regulator 1; zinc finger and
                     homeodomain protein 2"
                     /calculated_mol_wt=92176
     Region          27..77
                     /region_name="Interaction with EFNB1.
                     /evidence=ECO:0000250|UniProtKB:Q8C0C0"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6X8.1)"
     Site            37
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6X8.1)"
     Region          106..158
                     /region_name="zf_C2H2_ZHX"
                     /note="Zinc-fingers and homeoboxes C2H2 finger domain;
                     pfam18387"
                     /db_xref="CDD:436457"
     Region          164..204
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6X8.1)"
     Region          195..358
                     /region_name="Required for homodimerization.
                     /evidence=ECO:0000269|PubMed:12741956"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6X8.1)"
     Site            207
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6X8.1)"
     Region          263..497
                     /region_name="Required for interaction with NFYA.
                     /evidence=ECO:0000269|PubMed:12741956"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6X8.1)"
     Region          263..446
                     /region_name="Required for repressor activity.
                     /evidence=ECO:0000269|PubMed:12741956"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6X8.1)"
     Region          272..321
                     /region_name="homeodomain"
                     /note="Homeodomain; DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; cd00086"
                     /db_xref="CDD:238039"
     Region          317..446
                     /region_name="Required for nuclear localization.
                     /evidence=ECO:0000269|PubMed:12741956"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6X8.1)"
     Region          404..445
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6X8.1)"
     Region          444..496
                     /region_name="homeodomain"
                     /note="Homeodomain; DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; cd00086"
                     /db_xref="CDD:238039"
     Site            order(445,485,488..489,492)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          537..582
                     /region_name="HOX"
                     /note="Homeodomain; smart00389"
                     /db_xref="CDD:197696"
     Region          635..684
                     /region_name="homeodomain"
                     /note="Homeodomain; DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; cd00086"
                     /db_xref="CDD:238039"
     Region          755..837
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6X8.1)"
     Site            825
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8C0C0; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6X8.1)"
     Site            827
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8C0C0; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6X8.1)"
     CDS             1..837
                     /gene="ZHX2"
                     /gene_synonym="AFR1; RAF"
                     /coded_by="NM_001412812.1:1131..3644"
                     /note="isoform 1 is encoded by transcript variant 19"
                     /db_xref="GeneID:22882"
                     /db_xref="HGNC:HGNC:18513"
                     /db_xref="MIM:609185"
ORIGIN      
        1 maskrksttp cmvrtsqvve qdvpeevdra kekgigtpqp dvakdswaae lensskenev
       61 ievksmgesq skklqggyec kycpystqnl neftehvdmq hpnvilnply vcaecnfttk
      121 kydslsdhns kfhpgeanfk lklikrnnqt vleqsiettn hvvsittsgp gtgdsdsgis
      181 vsktpimkpg kpkadakkvp kkpeeitpen hvegtarlvt dtaeilsrlg gvellqdtlg
      241 hvmpsvqlpp ninlvpkvpv plnttkynsa ldtnatmins fnkfpyptqa elswltaask
      301 hpeehiriwf atqrlkhgis wspeeveear kkmfngtiqs vpptitvlpa qlaptkvtqp
      361 ilqtalpcqi lgqtslvltq vtsgsttvsc spitlavagv tnhgqkrplv tpqaapepkr
      421 phiaqvpepp pkvanppltp asdrkktkeq iahlkasflq sqfpddaevy rlievtglar
      481 seikkwfsdh ryrcqrgivh itseslakdq laiaasrhgr tyhaypdfap qkfkektqgq
      541 vkiledsflk ssfptqaeld rlrvetklsr reidswfser rklrdsmeqa vldsmgsgkk
      601 gqdvgapnga lsrldqlsga qltsslpsps paiaksqeqv hllrstfart qwptpqeydq
      661 laaktglvrt eivrwfkenr cllktgtvkw meqyqhqpma ddhgydavar katkpmaesp
      721 knggdvvpqy ykdpkklcee dleklvtrvk vgsepakdcl pakpseatsd rsegssrdgq
      781 gsdeneessv vdyvevtvge edaisdrsds wsqaaaegvs elaesdsdcv paeagqa
//
LOCUS       NP_001356862             643 aa            linear   PRI 05-APR-2023
DEFINITION  activating signal cointegrator 1 complex subunit 2 isoform 9 [Homo
            sapiens].
ACCESSION   NP_001356862 XP_016884497
VERSION     NP_001356862.1
DBSOURCE    REFSEQ: accession NM_001369933.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 643)
  AUTHORS   Narita M, Denk T, Matsuo Y, Sugiyama T, Kikuguchi C, Ito S, Sato N,
            Suzuki T, Hashimoto S, Machova I, Tesina P, Beckmann R and Inada T.
  TITLE     A distinct mammalian disome collision interface harbors K63-linked
            polyubiquitination of uS10 to trigger hRQT-mediated subunit
            dissociation
  JOURNAL   Nat Commun 13 (1), 6411 (2022)
   PUBMED   36302773
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 643)
  AUTHORS   Yang Y and Xu X.
  TITLE     Identification of key genes in coronary artery disease: an
            integrative approach based on weighted gene co-expression network
            analysis and their correlation with immune infiltration
  JOURNAL   Aging (Albany NY) 13 (6), 8306-8319 (2021)
   PUBMED   33686958
  REMARK    GeneRIF: Identification of key genes in coronary artery disease: an
            integrative approach based on weighted gene co-expression network
            analysis and their correlation with immune infiltration.
REFERENCE   3  (residues 1 to 643)
  AUTHORS   Jia J, Absmeier E, Holton N, Pietrzyk-Brzezinska AJ, Hackert P,
            Bohnsack KE, Bohnsack MT and Wahl MC.
  TITLE     The interaction of DNA repair factors ASCC2 and ASCC3 is affected
            by somatic cancer mutations
  JOURNAL   Nat Commun 11 (1), 5535 (2020)
   PUBMED   33139697
  REMARK    GeneRIF: The interaction of DNA repair factors ASCC2 and ASCC3 is
            affected by somatic cancer mutations.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 643)
  AUTHORS   Juszkiewicz S, Speldewinde SH, Wan L, Svejstrup JQ and Hegde RS.
  TITLE     The ASC-1 Complex Disassembles Collided Ribosomes
  JOURNAL   Mol Cell 79 (4), 603-614 (2020)
   PUBMED   32579943
REFERENCE   5  (residues 1 to 643)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 643)
  AUTHORS   Soll JM, Brickner JR, Mudge MC and Mosammaparast N.
  TITLE     RNA ligase-like domain in activating signal cointegrator 1 complex
            subunit 1 (ASCC1) regulates ASCC complex function during alkylation
            damage
  JOURNAL   J Biol Chem 293 (35), 13524-13533 (2018)
   PUBMED   29997253
REFERENCE   7  (residues 1 to 643)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   8  (residues 1 to 643)
  AUTHORS   Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G,
            Tanaka Y, Rudnik-Schoneborn S, Orgeur M, Zerres K, Vogt S, van
            Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH,
            Hubner C, Stricker S, Meierhofer D, Stenzel W and Schuelke M.
  TITLE     Mutations in Subunits of the Activating Signal Cointegrator 1
            Complex Are Associated with Prenatal Spinal Muscular Atrophy and
            Congenital Bone Fractures
  JOURNAL   Am J Hum Genet 98 (3), 473-489 (2016)
   PUBMED   26924529
REFERENCE   9  (residues 1 to 643)
  AUTHORS   Lee JH, Cheng R, Honig LS, Feitosa M, Kammerer CM, Kang MS, Schupf
            N, Lin SJ, Sanders JL, Bae H, Druley T, Perls T, Christensen K,
            Province M and Mayeux R.
  TITLE     Genome wide association and linkage analyses identified three
            loci-4q25, 17q23.2, and 10q11.21-associated with variation in
            leukocyte telomere length: the Long Life Family Study
  JOURNAL   Front Genet 4, 310 (2014)
   PUBMED   24478790
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 643)
  AUTHORS   Jung DJ, Sung HS, Goo YW, Lee HM, Park OK, Jung SY, Lim J, Kim HJ,
            Lee SK, Kim TS, Lee JW and Lee YC.
  TITLE     Novel transcription coactivator complex containing activating
            signal cointegrator 1
  JOURNAL   Mol Cell Biol 22 (14), 5203-5211 (2002)
   PUBMED   12077347
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Z82171.2 and AC004882.3.
            On Apr 24, 2019 this sequence version replaced XP_016884497.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.158589.1,
                                           SRR1660805.59076.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..643
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..643
                     /product="activating signal cointegrator 1 complex subunit
                     2 isoform 9"
                     /note="ASC-1 complex subunit P100; trip4 complex subunit
                     p100"
                     /calculated_mol_wt=73067
     Region          355..394
                     /region_name="CUE_ASCC2"
                     /note="CUE domain found in activating signal cointegrator
                     1 complex subunit 2 (ASCC2) and similar proteins; cd14364"
                     /db_xref="CDD:270547"
     CDS             1..643
                     /gene="ASCC2"
                     /gene_synonym="ASC1p100; p100"
                     /coded_by="NM_001369933.1:421..2352"
                     /note="isoform 9 is encoded by transcript variant 16"
                     /db_xref="GeneID:84164"
                     /db_xref="HGNC:HGNC:24103"
                     /db_xref="MIM:614216"
ORIGIN      
        1 mqkrlhrsvf ltflrmsthk eskdhfisps afgeilynnf lfdipkildl cvlfgkgnsp
       61 llqkmignif tqqpsyysdl detlptilqv fsnilqhcgl qgdganttpq kleergrltp
      121 sdmpllelkd ivlylcdtct tlwafldifp lacqtfqkhd fcyrlasfye aaipemesai
      181 kkrrledskl lgdlwqrlsh srkklmeifh iilnqicllp ilesscdniq gfieeflqif
      241 ssllqekrfl rdydalfpva edisllqqas svldetrtay ilqavesawe gvdrrkatda
      301 kdpsvieepn gepngvtvta eavsqasshp enseeeecmg aaaavgpamc gveldslisq
      361 vkdllpdlge gfilacleyy hydpeqvinn ileerlaptl sqldrnldre mkpdptpllt
      421 srhnvfqnde fdvfsrdsvd lsrvhkgkst rkeentrsll ndkravaaqr qryeqysvvv
      481 eevplqpges lpyhsvyyed eyddtydgnq vgandadsdd elisrrpfti pqvlrtkvpr
      541 egqeedddde eddadeeapk pdhfvqdpav lrekaearrm aflakkgyrh dsstavagsp
      601 rghgqsrett qerrkkeank atranhnrrt madrkrskgm ips
//
LOCUS       NP_001349676             567 aa            linear   PRI 17-DEC-2022
DEFINITION  replication initiator 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001349676 XP_006716016
VERSION     NP_001349676.1
DBSOURCE    REFSEQ: accession NM_001362747.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 567)
  AUTHORS   Sun Y, Sun W, Hua H, Zhang J, Yu Q, Wang J, Liu X and Dong A.
  TITLE     Overexpression of miR-127 Predicts Poor Prognosis and Contributes
            to the Progression of Papillary Thyroid Cancer by Targeting REPIN1
  JOURNAL   Horm Metab Res 53 (3), 197-203 (2021)
   PUBMED   33339069
  REMARK    GeneRIF: Overexpression of miR-127 Predicts Poor Prognosis and
            Contributes to the Progression of Papillary Thyroid Cancer by
            Targeting REPIN1.
REFERENCE   2  (residues 1 to 567)
  AUTHORS   Abshagen K, Berger C, Dietrich A, Schutz T, Wittekind C, Stumvoll
            M, Bluher M and Kloting N.
  TITLE     A Human REPIN1 Gene Variant: Genetic Risk Factor for the
            Development of Nonalcoholic Fatty Liver Disease
  JOURNAL   Clin Transl Gastroenterol 11 (1), e00114 (2020)
   PUBMED   31922994
  REMARK    GeneRIF: A Human REPIN1 Gene Variant: Genetic Risk Factor for the
            Development of Nonalcoholic Fatty Liver Disease.
REFERENCE   3  (residues 1 to 567)
  AUTHORS   Kruger J, Berger C, Weidle K, Schleinitz D, Tonjes A, Stumvoll M,
            Bluher M, Kovacs P and Kloting N.
  TITLE     Metabolic effects of genetic variation in the human REPIN1 gene
  JOURNAL   Int J Obes (Lond) 43 (4), 821-831 (2019)
   PUBMED   29915365
  REMARK    GeneRIF: data suggest that genetic variation in human REPIN1 plays
            a role in glucose and lipid metabolism by differentially affecting
            the expression of REPIN1 target genes including glucose and fatty
            acid transporters
REFERENCE   4  (residues 1 to 567)
  AUTHORS   Wang Y and Lin Y.
  TITLE     Hsa-mir-127 impairs survival of patients with glioma and promotes
            proliferation, migration and invasion of cancerous cells by
            modulating replication initiator 1
  JOURNAL   Neuroreport 29 (14), 1166-1173 (2018)
   PUBMED   29979259
  REMARK    GeneRIF: Increased expression of hsa-mir-127 and decreased
            expression of REPIN1 were both associated with poor overall
            survival
REFERENCE   5  (residues 1 to 567)
  AUTHORS   Meng Y, Wang L, Xu J and Zhang Q.
  TITLE     AP4 positively regulates LAPTM4B to promote hepatocellular
            carcinoma growth and metastasis, while reducing chemotherapy
            sensitivity
  JOURNAL   Mol Oncol 12 (3), 373-390 (2018)
   PUBMED   29337428
  REMARK    GeneRIF: AP4 and LAPTM4B are highly coexpressed in hepatocellular
            carcinoma tissues, and their coexpression may be a marker of poor
            prognosis.
REFERENCE   6  (residues 1 to 567)
  AUTHORS   Montigny WJ, Houchens CR, Illenye S, Gilbert J, Coonrod E, Chang YC
            and Heintz NH.
  TITLE     Condensation by DNA looping facilitates transfer of large DNA
            molecules into mammalian cells
  JOURNAL   Nucleic Acids Res 29 (9), 1982-1988 (2001)
   PUBMED   11328883
REFERENCE   7  (residues 1 to 567)
  AUTHORS   Houchens CR, Montigny W, Zeltser L, Dailey L, Gilbert JM and Heintz
            NH.
  TITLE     The dhfr oribeta-binding protein RIP60 contains 15 zinc fingers:
            DNA binding and looping by the central three fingers and an
            associated proline-rich region
  JOURNAL   Nucleic Acids Res 28 (2), 570-581 (2000)
   PUBMED   10606657
REFERENCE   8  (residues 1 to 567)
  AUTHORS   Mastrangelo IA, Held PG, Dailey L, Wall JS, Hough PV, Heintz N and
            Heintz NH.
  TITLE     RIP60 dimers and multiples of dimers assemble link structures at an
            origin of bidirectional replication in the dihydrofolate reductase
            amplicon of Chinese hamster ovary cells
  JOURNAL   J Mol Biol 232 (3), 766-778 (1993)
   PUBMED   8355269
REFERENCE   9  (residues 1 to 567)
  AUTHORS   Caddle MS, Dailey L and Heintz NH.
  TITLE     RIP60, a mammalian origin-binding protein, enhances DNA bending
            near the dihydrofolate reductase origin of replication
  JOURNAL   Mol Cell Biol 10 (12), 6236-6243 (1990)
   PUBMED   2247056
REFERENCE   10 (residues 1 to 567)
  AUTHORS   Dailey L, Caddle MS, Heintz N and Heintz NH.
  TITLE     Purification of RIP60 and RIP100, mammalian proteins with
            origin-specific DNA-binding and ATP-dependent DNA helicase
            activities
  JOURNAL   Mol Cell Biol 10 (12), 6225-6235 (1990)
   PUBMED   2174103
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CD675150.1, CX166683.1 and BC000363.2.
            On Apr 26, 2018 this sequence version replaced XP_006716016.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.166977.1,
                                           DRR138512.201015.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..567
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     Protein         1..567
                     /product="replication initiator 1 isoform 1"
                     /note="replication initiation region protein (60kD); zinc
                     finger protein 464 (RIP60); H_DJ0584D14.12; zinc finger
                     protein AP4; ATT-binding protein; DHFR oribeta-binding
                     protein RIP60; 60 kDa origin-specific DNA-binding protein;
                     60 kDa replication initiation region protein"
                     /calculated_mol_wt=63444
     Region          17..52
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Site            27
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Site            33
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Region          59..79
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          87..107
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          118..138
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <138..312
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          147..168
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          179..199
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          233..540
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          238..258
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(243,245,247,249..250,253..254,257,271,273,277..278,
                     281..282,285,299,301,303,305..306,309..310,313)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          266..286
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            276
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Region          294..314
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          305..372
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Region          377..397
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          405..425
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          433..453
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          461..481
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(466,468,470,472..473,476..477,480,494,496,500..501,
                     504..505,508,522,524,526,528..529,532..533,536)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          489..509
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          517..537
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          545..565
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..567
                     /gene="REPIN1"
                     /gene_synonym="AP4; RIP60; Zfp464; ZNF464"
                     /coded_by="NM_001362747.2:132..1835"
                     /note="isoform 1 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS43677.1"
                     /db_xref="GeneID:29803"
                     /db_xref="HGNC:HGNC:17922"
                     /db_xref="MIM:619039"
ORIGIN      
        1 mlerrcrgpl amglaqprll sgpsqespqt lgkesrglrq qgtsvaqsga qapgrahrca
       61 hcrrhfpgwv alwlhtrrcq arlplpcpec grrfrhapfl alhrqvhaaa tpdlgfachl
      121 cgqsfrgwva lvlhlrahsa akrpiacpkc errfwrrkql rahlrrchpp apearpficg
      181 ncgrsfaqwd qlvahkrvhv aealeeaaak algprprgrp avtaprpggd avdrpfqcac
      241 cgkrfrhkpn liahrrvhtg erphqcpecg krftnkpylt shrrihtgek pypckecgrr
      301 frhkpnllsh skihkrsegs aqaapgpgsp qlpagpqesa aeptpavplk paqepppgap
      361 pehpqdpiea ppslyscddc grsfrlerfl rahqrqhtge rpftcaecgk nfgkkthlva
      421 hsrvhsgerp faceecgrrf sqgshlaahr rdhapdrpfv cpdcgkafrh kpylaahrri
      481 htgekpyvcp dcgkafsqks nlvshrriht gerpyacpdc drsfsqksnl ithrkshird
      541 gafccaicgq tfddeerlla hqkkhdv
//
LOCUS       NP_001355923             153 aa            linear   PRI 17-DEC-2022
DEFINITION  AP-1 complex subunit sigma-2 isoform 3 [Homo sapiens].
ACCESSION   NP_001355923
VERSION     NP_001355923.1
DBSOURCE    REFSEQ: accession NM_001368994.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 153)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 153)
  AUTHORS   Luan W, Ding Y, Ma S, Ruan H, Wang J and Lu F.
  TITLE     Long noncoding RNA LINC00518 acts as a competing endogenous RNA to
            promote the metastasis of malignant melanoma via miR-204-5p/AP1S2
            axis
  JOURNAL   Cell Death Dis 10 (11), 855 (2019)
   PUBMED   31712557
  REMARK    GeneRIF: Long noncoding RNA LINC00518 acts as a competing
            endogenous RNA to promote the metastasis of malignant melanoma via
            miR-204-5p/AP1S2 axis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 153)
  AUTHORS   Huo L, Teng Z, Wang H and Liu X.
  TITLE     A novel splice site mutation in AP1S2 gene for X-linked mental
            retardation in a Chinese pedigree and literature review
  JOURNAL   Brain Behav 9 (3), e01221 (2019)
   PUBMED   30714330
  REMARK    GeneRIF: Four generations in Chinese pedigree with Pettigrew
            syndrome resulting from a novel splice site mutation in AP1S2.
            AP1S2 mutations appear to be an important cause of Mental
            retardation,delayed in walking, abnormal speech, hypotonia,
            dysmorphic features, abnormal behavior and brain.
            Review article
REFERENCE   4  (residues 1 to 153)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 153)
  AUTHORS   Baltes J, Larsen JV, Radhakrishnan K, Geumann C, Kratzke M,
            Petersen CM and Schu P.
  TITLE     sigma1B adaptin regulates adipogenesis by mediating the sorting of
            sortilin in adipose tissue
  JOURNAL   J Cell Sci 127 (Pt 16), 3477-3487 (2014)
   PUBMED   24928897
  REMARK    GeneRIF: sigma1B adaptin regulates adipogenesis by mediating the
            sorting of sortilin in adipose tissue.
REFERENCE   6  (residues 1 to 153)
  AUTHORS   Kirchhausen T.
  TITLE     Clathrin
  JOURNAL   Annu Rev Biochem 69, 699-727 (2000)
   PUBMED   10966473
  REMARK    Review article
REFERENCE   7  (residues 1 to 153)
  AUTHORS   Carpenter NJ, Brown WT, Qu Y and Keenan KL.
  TITLE     Regional localization of a nonspecific X-linked mental retardation
            gene (MRX59) to Xp21.2-p22.2
  JOURNAL   Am J Med Genet 85 (3), 266-270 (1999)
   PUBMED   10398241
REFERENCE   8  (residues 1 to 153)
  AUTHORS   Takatsu H, Sakurai M, Shin HW, Murakami K and Nakayama K.
  TITLE     Identification and characterization of novel clathrin
            adaptor-related proteins
  JOURNAL   J Biol Chem 273 (38), 24693-24700 (1998)
   PUBMED   9733768
REFERENCE   9  (residues 1 to 153)
  AUTHORS   Mulley JC, Kerr B, Stevenson R and Lubs H.
  TITLE     Nomenclature guidelines for X-linked mental retardation
  JOURNAL   Am J Med Genet 43 (1-2), 383-391 (1992)
   PUBMED   1605216
  REMARK    Review article
REFERENCE   10 (residues 1 to 153)
  AUTHORS   Kirchhausen T, Davis AC, Frucht S, Greco BO, Payne GS and Tubb B.
  TITLE     AP17 and AP19, the mammalian small chains of the
            clathrin-associated protein complexes show homology to Yap17p,
            their putative homolog in yeast
  JOURNAL   J Biol Chem 266 (17), 11153-11157 (1991)
   PUBMED   2040623
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK296135.1 and AC004106.1.
            
            Summary: Adaptor protein complex 1 is found at the cytoplasmic face
            of coated vesicles located at the Golgi complex, where it mediates
            both the recruitment of clathrin to the membrane and the
            recognition of sorting signals within the cytosolic tails of
            transmembrane receptors. This complex is a heterotetramer composed
            of two large, one medium, and one small adaptin subunit. The
            protein encoded by this gene serves as the small subunit of this
            complex and is a member of the adaptin protein family. Transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jan 2013].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296135.1, SRR11853565.30170.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..153
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     Protein         1..153
                     /product="AP-1 complex subunit sigma-2 isoform 3"
                     /note="clathrin adaptor complex AP1 sigma 1B subunit;
                     clathrin assembly protein complex 1 sigma-1B small chain;
                     AP-1 complex subunit sigma-2; sigma1B-adaptin;
                     adaptor-related protein complex 1 subunit sigma-1B;
                     adaptor related protein complex 1 sigma 2 subunit; adaptor
                     protein complex AP-1 sigma-1B subunit; golgi adaptor
                     HA1/AP1 adaptin sigma-1B subunit; adapter-related protein
                     complex 1 sigma-1B subunit"
                     /calculated_mol_wt=18260
     Region          2..142
                     /region_name="AP1_sigma"
                     /note="AP-1 complex subunit sigma; cd14831"
                     /db_xref="CDD:341435"
     Site            order(8..9,14,61..64,87..88,91,96..100)
                     /site_type="other"
                     /note="dileucine motif interface [polypeptide binding]"
                     /db_xref="CDD:341435"
     Site            order(13..16,18..19,44..48,74..78,80..82,85,96,103..106,
                     110..111,114..115,118..125,127..129,136..138,140..141)
                     /site_type="other"
                     /note="AP-1 gamma interface [polypeptide binding]"
                     /db_xref="CDD:341435"
     Site            order(25,29,33,36,50..53)
                     /site_type="other"
                     /note="AP-1 mu interface [polypeptide binding]"
                     /db_xref="CDD:341435"
     CDS             1..153
                     /gene="AP1S2"
                     /gene_synonym="DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS;
                     SIGMA1B"
                     /coded_by="NM_001368994.1:127..588"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS94559.1"
                     /db_xref="GeneID:8905"
                     /db_xref="HGNC:HGNC:560"
                     /db_xref="MIM:300629"
ORIGIN      
        1 mqfmllfsrq gklrlqkwyv plsdkekkki trelvqtvla rkpkmcsfle wrdlkivykr
       61 yaslyfccai edqdnelitl eiihryvell dkyfgsvcel diifnfekay fildefllgg
      121 evqetskknv lkaieqadll qeprheyfnv pvy
//
LOCUS       NP_065852                414 aa            linear   PRI 18-DEC-2022
DEFINITION  arrestin domain-containing protein 3 isoform a [Homo sapiens].
ACCESSION   NP_065852
VERSION     NP_065852.1
DBSOURCE    REFSEQ: accession NM_020801.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 414)
  AUTHORS   Li N, Shi H, Hou P, Gao L, Shi Y, Mi W, Zhang G, Wang N, Dai W, Wei
            L, Jin T, Shi Y and Guo S.
  TITLE     ARRDC3 polymorphisms may affect the risk of glioma in Chinese Han
  JOURNAL   Funct Integr Genomics 22 (1), 27-33 (2022)
   PUBMED   34748117
  REMARK    GeneRIF: ARRDC3 polymorphisms may affect the risk of glioma in
            Chinese Han.
REFERENCE   2  (residues 1 to 414)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (residues 1 to 414)
  AUTHORS   Yan J, Shi L, Lin S and Li Y.
  TITLE     MicroRNA-624-mediated ARRDC3/YAP/HIF1alpha axis enhances esophageal
            squamous cell carcinoma cell resistance to cisplatin and paclitaxel
  JOURNAL   Bioengineered 12 (1), 5334-5347 (2021)
   PUBMED   34415232
  REMARK    GeneRIF: MicroRNA-624-mediated ARRDC3/YAP/HIF1alpha axis enhances
            esophageal squamous cell carcinoma cell resistance to cisplatin and
            paclitaxel.
REFERENCE   4  (residues 1 to 414)
  AUTHORS   Arakaki AKS, Pan WA, Wedegaertner H, Roca-Mercado I, Chinn L,
            Gujral TS and Trejo J.
  TITLE     alpha-Arrestin ARRDC3 tumor suppressor function is linked to
            GPCR-induced TAZ activation and breast cancer metastasis
  JOURNAL   J Cell Sci 134 (8) (2021)
   PUBMED   33722977
  REMARK    GeneRIF: alpha-Arrestin ARRDC3 tumor suppressor function is linked
            to GPCR-induced TAZ activation and breast cancer metastasis.
REFERENCE   5  (residues 1 to 414)
  AUTHORS   Huang CN, Huang SP, Pao JB, Chang TY, Lan YH, Lu TL, Lee HZ, Juang
            SH, Wu PP, Pu YS, Hsieh CJ and Bao BY.
  TITLE     Genetic polymorphisms in androgen receptor-binding sites predict
            survival in prostate cancer patients receiving androgen-deprivation
            therapy
  JOURNAL   Ann Oncol 23 (3), 707-713 (2012)
   PUBMED   21652578
  REMARK    GeneRIF: single-nucleotide polymorphisms in ARRDC3, FLT1, and SKAP1
            were significant predictors for survival androgen-deprivation
            therapy in prostate cancer patients.
REFERENCE   6  (residues 1 to 414)
  AUTHORS   Davis OS, Butcher LM, Docherty SJ, Meaburn EL, Curtis CJ, Simpson
            MA, Schalkwyk LC and Plomin R.
  TITLE     A three-stage genome-wide association study of general cognitive
            ability: hunting the small effects
  JOURNAL   Behav Genet 40 (6), 759-767 (2010)
   PUBMED   20306291
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (residues 1 to 414)
  AUTHORS   Draheim KM, Chen HB, Tao Q, Moore N, Roche M and Lyle S.
  TITLE     ARRDC3 suppresses breast cancer progression by negatively
            regulating integrin beta4
  JOURNAL   Oncogene 29 (36), 5032-5047 (2010)
   PUBMED   20603614
  REMARK    GeneRIF: ARRDC3 directly binds to a phosphorylated form of ITGbeta4
            leading to its internalization, ubiquitination and ultimate
            degradation, and suppress breast cancer progression.
REFERENCE   8  (residues 1 to 414)
  AUTHORS   Nabhan JF, Pan H and Lu Q.
  TITLE     Arrestin domain-containing protein 3 recruits the NEDD4 E3 ligase
            to mediate ubiquitination of the beta2-adrenergic receptor
  JOURNAL   EMBO Rep 11 (8), 605-611 (2010)
   PUBMED   20559325
  REMARK    GeneRIF: Data show that ARRDC3 interacts with NEDD4 through two
            conserved PPXY motifs and recruits NEDD4 to the activated
            beta2-adrenergic receptor.
REFERENCE   9  (residues 1 to 414)
  AUTHORS   Patwari P, Chutkow WA, Cummings K, Verstraeten VL, Lammerding J,
            Schreiter ER and Lee RT.
  TITLE     Thioredoxin-independent regulation of metabolism by the
            alpha-arrestin proteins
  JOURNAL   J Biol Chem 284 (37), 24996-25003 (2009)
   PUBMED   19605364
  REMARK    GeneRIF: Txnip regulates cellular metabolism independent of its
            binding to thioredoxin and the arrestin domains are crucial
            structural elements in metabolic functions of alpha-arrestin
            proteins
REFERENCE   10 (residues 1 to 414)
  AUTHORS   Oka S, Masutani H, Liu W, Horita H, Wang D, Kizaka-Kondoh S and
            Yodoi J.
  TITLE     Thioredoxin-binding protein-2-like inducible membrane protein is a
            novel vitamin D3 and peroxisome proliferator-activated receptor
            (PPAR)gamma ligand target protein that regulates PPARgamma
            signaling
  JOURNAL   Endocrinology 147 (2), 733-743 (2006)
   PUBMED   16269462
  REMARK    GeneRIF: [Thioredoxin-binding protein-2-like inducible membrane
            protein, TLIMP] TLIMP, a novel VD3- or PPARgamma ligand-inducible
            membrane-associated protein, plays a regulatory role in cell
            proliferation and PPARgamma activation.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX642781.1, AB037797.1,
            HY355442.1 and AC008799.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the arrestin family of
            proteins, which regulate G protein-mediated signaling. The encoded
            protein is thought to act as a regulator of breast cancer growth
            and progression by binding to a phosphorylated form of integrin
            beta4, a tumor-related antigen, targeting the integrin for
            internalization and degradation. [provided by RefSeq, Jul 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB037797.1, SRR18074969.2823903.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265138.4/ ENSP00000265138.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..414
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.3"
     Protein         1..414
                     /product="arrestin domain-containing protein 3 isoform a"
                     /note="TBP-2-like inducible membrane protein;
                     alpha-arrestin 3"
                     /calculated_mol_wt=46264
     Region          22..165
                     /region_name="Arrestin_N"
                     /note="Arrestin (or S-antigen), N-terminal domain;
                     pfam00339"
                     /db_xref="CDD:425619"
     Region          187..314
                     /region_name="Arrestin_C"
                     /note="Arrestin (or S-antigen), C-terminal domain;
                     smart01017"
                     /db_xref="CDD:214976"
     Region          346..349
                     /region_name="PPxY motif 1. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96B67.1)"
     Region          391..394
                     /region_name="PPxY motif 2. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96B67.1)"
     Region          393..414
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96B67.1)"
     CDS             1..414
                     /gene="ARRDC3"
                     /gene_synonym="TLIMP"
                     /coded_by="NM_020801.4:226..1470"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS34202.1"
                     /db_xref="GeneID:57561"
                     /db_xref="HGNC:HGNC:29263"
                     /db_xref="MIM:612464"
ORIGIN      
        1 mvlgkvkslt isfdclndsn vpvyssgdtv sgrvnlevtg eirvkslkih arghakvrwt
       61 esrnagsnta ytqnyteeve yfnhkdilig herdddnsee gfhtihsgrh eyafsfelpq
      121 tplatsfegr hgsvrywvka elhrpwllpv klkkeftvfe hidintpsll spqagtkekt
      181 lccwfctsgp islsakierk gytpgesiqi faeiencssr mvvpkaaiyq tqafyakgkm
      241 kevkqlvanl rgeslssgkt etwngkllki ppvspsildc siirveyslm vyvdipgamd
      301 lflnlplvig tiplhpfgsr tssvssqcsm nmnwlslslp erpeappsya evvteeqrrn
      361 nlapvsacdd feralqgplf ayiqefrflp pplyseidpn pdqsaddrps cpsr
//
LOCUS       NP_001012264             156 aa            linear   PRI 24-DEC-2022
DEFINITION  probable inactive ribonuclease-like protein 13 precursor [Homo
            sapiens].
ACCESSION   NP_001012264 XP_498573
VERSION     NP_001012264.1
DBSOURCE    REFSEQ: accession NM_001012264.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 156)
  AUTHORS   Yamada Y, Sakuma J, Takeuchi I, Yasukochi Y, Kato K, Oguri M,
            Fujimaki T, Horibe H, Muramatsu M, Sawabe M, Fujiwara Y, Taniguchi
            Y, Obuchi S, Kawai H, Shinkai S, Mori S, Arai T and Tanaka M.
  TITLE     Identification of EGFLAM, SPATC1L and RNASE13 as novel
            susceptibility loci for aortic aneurysm in Japanese individuals by
            exome-wide association studies
  JOURNAL   Int J Mol Med 39 (5), 1091-1100 (2017)
   PUBMED   28339009
  REMARK    GeneRIF: rs1465567 of EGFLAM and rs113710653 of SPATC1L may be
            susceptibility loci for true aortic aneurysm and rs143881017 of
            RNASE13 may be such a locus for dissecting aortic aneurysm in
            Japanese individuals.
REFERENCE   2  (residues 1 to 156)
  AUTHORS   Premzl M.
  TITLE     Comparative genomic analysis of eutherian ribonuclease A genes
  JOURNAL   Mol Genet Genomics 289 (2), 161-167 (2014)
   PUBMED   24337645
REFERENCE   3  (residues 1 to 156)
  AUTHORS   Cho S, Beintema JJ and Zhang J.
  TITLE     The ribonuclease A superfamily of mammals and birds: identifying
            new members and tracing evolutionary histories
  JOURNAL   Genomics 85 (2), 208-220 (2005)
   PUBMED   15676279
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL161668.6, BC044831.1 and AY665808.1.
            On Feb 12, 2005 this sequence version replaced XP_498573.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC044831.1, FJ237363.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMN02400288
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382951.4/ ENSP00000372410.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..156
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     Protein         1..156
                     /product="probable inactive ribonuclease-like protein 13
                     precursor"
                     /note="ribonuclease 13; ribonuclease-like protein 13;
                     probable inactive ribonuclease-like protein 13; epididymis
                     secretory sperm binding protein Li 86p; ribonuclease A L1;
                     ribonuclease, RNase A family, 13 (non-active)"
                     /calculated_mol_wt=15710
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2153
     Region          27..142
                     /region_name="RNase_A"
                     /note="RNase A family, or Pancreatic RNases family;
                     includes vertebrate RNase homologs to the bovine
                     pancreatic ribonuclease A (RNase A). Many of these enzymes
                     have special biological activities; for example, some
                     stimulate the development of vascular...; cd00163"
                     /db_xref="CDD:119386"
     Site            order(70,102,113,128,130,132..133,135)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:119386"
     Site            126
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5GAN3.1)"
     CDS             1..156
                     /gene="RNASE13"
                     /gene_synonym="HEL-S-86p; RAL1"
                     /coded_by="NM_001012264.4:161..631"
                     /db_xref="CCDS:CCDS32039.1"
                     /db_xref="GeneID:440163"
                     /db_xref="HGNC:HGNC:25285"
ORIGIN      
        1 mapavtrllf lqlvlgptlv mdikmqigsr nfytlsidyp rvnypkgfrg ycnglmsymr
       61 gkmqnsdcpk ihyvihapwk aiqkfckysd sfcenyneyc tltqdslpit vcslshqqpp
      121 tscyynstlt nqklyllcsr kyeadpigia glysgi
//
LOCUS       NP_001191007              78 aa            linear   PRI 24-DEC-2022
DEFINITION  V-type proton ATPase subunit G 2 isoform c [Homo sapiens].
ACCESSION   NP_001191007
VERSION     NP_001191007.1
DBSOURCE    REFSEQ: accession NM_001204078.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 78)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 78)
  AUTHORS   Hohn A, Sittig A, Jung T, Grimm S and Grune T.
  TITLE     Lipofuscin is formed independently of macroautophagy and lysosomal
            activity in stress-induced prematurely senescent human fibroblasts
  JOURNAL   Free Radic Biol Med 53 (9), 1760-1769 (2012)
   PUBMED   22982048
REFERENCE   3  (residues 1 to 78)
  AUTHORS   Mewar D, Marinou I, Lee ME, Timms JM, Kilding R, Teare MD, Read RC
            and Wilson AG.
  TITLE     Haplotype-specific gene expression profiles in a telomeric major
            histocompatibility complex gene cluster and susceptibility to
            autoimmune diseases
  JOURNAL   Genes Immun 7 (8), 625-631 (2006)
   PUBMED   16971954
REFERENCE   4  (residues 1 to 78)
  AUTHORS   Shichi D, Kikkawa EF, Ota M, Katsuyama Y, Kimura A, Matsumori A,
            Kulski JK, Naruse TK and Inoko H.
  TITLE     The haplotype block, NFKBIL1-ATP6V1G2-BAT1-MICB-MICA, within the
            class III-class I boundary region of the human major
            histocompatibility complex may control susceptibility to hepatitis
            C virus-associated dilated cardiomyopathy
  JOURNAL   Tissue Antigens 66 (3), 200-208 (2005)
   PUBMED   16101831
REFERENCE   5  (residues 1 to 78)
  AUTHORS   Smith AN, Borthwick KJ and Karet FE.
  TITLE     Molecular cloning and characterization of novel tissue-specific
            isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and
            their evaluation in autosomal recessive distal renal tubular
            acidosis
  JOURNAL   Gene 297 (1-2), 169-177 (2002)
   PUBMED   12384298
REFERENCE   6  (residues 1 to 78)
  AUTHORS   Neville MJ and Campbell RD.
  TITLE     A new member of the Ig superfamily and a V-ATPase G subunit are
            among the predicted products of novel genes close to the TNF locus
            in the human MHC
  JOURNAL   J Immunol 162 (8), 4745-4754 (1999)
   PUBMED   10202016
REFERENCE   7  (residues 1 to 78)
  AUTHORS   Nelson N and Harvey WR.
  TITLE     Vacuolar and plasma membrane proton-adenosinetriphosphatases
  JOURNAL   Physiol Rev 79 (2), 361-385 (1999)
   PUBMED   10221984
  REMARK    Review article
REFERENCE   8  (residues 1 to 78)
  AUTHORS   Finbow ME and Harrison MA.
  TITLE     The vacuolar H+-ATPase: a universal proton pump of eukaryotes
  JOURNAL   Biochem J 324 (Pt 3) (Pt 3), 697-712 (1997)
   PUBMED   9210392
  REMARK    Review article
REFERENCE   9  (residues 1 to 78)
  AUTHORS   Stevens TH and Forgac M.
  TITLE     Structure, function and regulation of the vacuolar (H+)-ATPase
  JOURNAL   Annu Rev Cell Dev Biol 13, 779-808 (1997)
   PUBMED   9442887
  REMARK    Review article
REFERENCE   10 (residues 1 to 78)
  AUTHORS   Dautry-Varsat,A.
  TITLE     Receptor-mediated endocytosis: the intracellular journey of
            transferrin and its receptor
  JOURNAL   Biochimie 68 (3), 375-381 (1986)
   PUBMED   2874839
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC047791.1 and AL662801.7.
            
            Summary: This gene encodes a component of vacuolar ATPase
            (V-ATPase), a multisubunit enzyme that mediates acidification of
            intracellular compartments of eukaryotic cells. V-ATPase dependent
            acidification is necessary for such intracellular processes as
            protein sorting, zymogen activation, receptor-mediated endocytosis,
            and synaptic vesicle proton gradient generation. V-ATPase is
            composed of a cytosolic V1 domain and a transmembrane V0 domain.
            The V1 domain consists of three A and three B subunits, two G
            subunits plus the C, D, E, F, and H subunits. The V1 domain
            contains the ATP catalytic site. The V0 domain consists of five
            different subunits: a, c, c', c'', and d. Additional isoforms of
            many of the V1 and V0 subunit proteins are encoded by multiple
            genes or alternatively spliced transcript variants. This encoded
            protein is one of three V1 domain G subunit proteins. This gene had
            previous gene symbols of ATP6G and ATP6G2. Alternatively spliced
            transcript variants encoding different isoforms have been
            described. Read-through transcription also exists between this gene
            and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B
            (DDX39B) gene. [provided by RefSeq, Feb 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC047791.1, BQ959563.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..78
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     Protein         1..78
                     /product="V-type proton ATPase subunit G 2 isoform c"
                     /EC_number="7.1.2.2"
                     /note="vacuolar ATP synthase subunit G 2; V-ATPase 13 kDa
                     subunit 2; vacuolar proton pump G subunit 2;
                     H(+)-transporting two-sector ATPase, subunit G2; V-type
                     proton ATPase subunit G 2; ATPase, H+ transporting,
                     lysosomal (vacuolar proton pump); ATPase, H+ transporting,
                     lysosomal 13kDa, V1 subunit G2"
                     /calculated_mol_wt=8823
     Region          3..67
                     /region_name="V-ATPase_G"
                     /note="Vacuolar (H+)-ATPase G subunit; cl03922"
                     /db_xref="CDD:446233"
     CDS             1..78
                     /gene="ATP6V1G2"
                     /gene_synonym="ATP6G; ATP6G2; NG38; VMA10"
                     /coded_by="NM_001204078.2:50..286"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS56413.1"
                     /db_xref="GeneID:534"
                     /db_xref="HGNC:HGNC:862"
                     /db_xref="MIM:606853"
ORIGIN      
        1 masqsqgiqq llqaekraae kvadarkrka rrlkqatrrq vqgmqssqqr nrervlaqll
       61 gmvcdvrpqv hpnyrisa
//
LOCUS       NP_001309215             335 aa            linear   PRI 25-DEC-2022
DEFINITION  zinc finger protein 396 isoform 1 [Homo sapiens].
ACCESSION   NP_001309215 XP_005258293
VERSION     NP_001309215.1
DBSOURCE    REFSEQ: accession NM_001322286.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 335)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   2  (residues 1 to 335)
  AUTHORS   Bai J, Kito Y, Okubo H, Nagayama T and Takeuchi T.
  TITLE     Expression of ZNF396 in basal cell carcinoma
  JOURNAL   Arch Dermatol Res 306 (4), 399-404 (2014)
   PUBMED   24445935
  REMARK    GeneRIF: ZNF396 might repress Notch-Hes1 signaling axis and prevent
            tumor cells from undergoing squamous differentiation in basal cell
            carcinoma.
REFERENCE   3  (residues 1 to 335)
  AUTHORS   Deng X, Sabino EC, Cunha-Neto E, Ribeiro AL, Ianni B, Mady C, Busch
            MP and Seielstad M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 335)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   5  (residues 1 to 335)
  AUTHORS   Wu Y, Yu L, Bi G, Luo K, Zhou G and Zhao S.
  TITLE     Identification and characterization of two novel human SCAN
            domain-containing zinc finger genes ZNF396 and ZNF397
  JOURNAL   Gene 310, 193-201 (2003)
   PUBMED   12801647
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007998.10 and AF533251.2.
            On Apr 9, 2016 this sequence version replaced XP_005258293.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.148209.1,
                                           SRR1803614.74691.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267781 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000589332.7/ ENSP00000466500.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..335
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.2"
     Protein         1..335
                     /product="zinc finger protein 396 isoform 1"
                     /note="zinc finger and SCAN domain-containing protein 14"
                     /calculated_mol_wt=38481
     Region          48..157
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Region          239..>306
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          253..273
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(253,256,269,273)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(258,260,262,264..265,268..269,272,286,288,292..293,
                     296..297,300,314,316,318,320..321,324..325,328)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          281..301
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          307..329
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          309..329
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..335
                     /gene="ZNF396"
                     /gene_synonym="ZSCAN14"
                     /coded_by="NM_001322286.2:133..1140"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS82247.1"
                     /db_xref="GeneID:252884"
                     /db_xref="HGNC:HGNC:18824"
                     /db_xref="MIM:609600"
ORIGIN      
        1 msaklgksss lltqtseecn giltekmeee eqtcdpdssl hwsssyspet frqqfrqfgy
       61 qdspgpheal srlwelchlw lrpevhtkeq ilellvleqf lailpkelqa wvqkhhpeng
      121 eetvtmledv ereldgpkqi ffgrrkdmia eklapseite elpssqlmpv kkqlqgaswe
      181 lqslrphded ikttnvksas rqktslgiel hcnvsnilhm ngsqsstyrg tyeqdgrfek
      241 rqgnpswkkq qkcdecgkif sqssalilhq rihsgkkpya cdecakafsr sailiqhrrt
      301 htgekpykch dcgkafsqss nlfrhrkrhi rkkvp
//
LOCUS       NP_001091979            1006 aa            linear   PRI 25-DEC-2022
DEFINITION  small G protein signaling modulator 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001091979
VERSION     NP_001091979.1
DBSOURCE    REFSEQ: accession NM_001098509.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1006)
  AUTHORS   Su X, Chen D, Zhu L, Jia H, Cai J, Li P, Han B, Wang D, Li H, Fan
            J, Gu M, Zhou Y, Guan H and Wei W.
  TITLE     SGSM2 inhibits thyroid cancer progression by activating RAP1 and
            enhancing competitive RAS inhibition
  JOURNAL   Cell Death Dis 13 (3), 218 (2022)
   PUBMED   35264562
  REMARK    GeneRIF: SGSM2 inhibits thyroid cancer progression by activating
            RAP1 and enhancing competitive RAS inhibition.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1006)
  AUTHORS   Geng R, Li Z, Yu S, Yuan C, Hong W, Wang Z, Wang Q, Yi Z and Fang
            Y.
  TITLE     Weighted gene co-expression network analysis identifies specific
            modules and hub genes related to subsyndromal symptomatic
            depression
  JOURNAL   World J Biol Psychiatry 21 (2), 102-110 (2020)
   PUBMED   30489189
  REMARK    GeneRIF: Weighted gene co-expression network analysis identifies
            specific modules and hub genes related to subsyndromal symptomatic
            depression.
REFERENCE   3  (residues 1 to 1006)
  AUTHORS   Lin JH, Lee WJ, Wu HC, Wu CH, Chen LC, Huang CC, Chang HL, Cheng
            TC, Chang HW, Ho CT, Tu SH and Ho YS.
  TITLE     Small G protein signalling modulator 2 (SGSM2) is involved in
            oestrogen receptor-positive breast cancer metastasis through
            enhancement of migratory cell adhesion via interaction with
            E-cadherin
  JOURNAL   Cell Adh Migr 13 (1), 120-137 (2019)
   PUBMED   30744493
  REMARK    GeneRIF: Increased expression of SGSM2 is associated with estrogen
            receptor-positive breast cancer metastasis.
REFERENCE   4  (residues 1 to 1006)
  AUTHORS   Marubashi S, Shimada H, Fukuda M and Ohbayashi N.
  TITLE     RUTBC1 Functions as a GTPase-activating Protein for Rab32/38 and
            Regulates Melanogenic Enzyme Trafficking in Melanocytes
  JOURNAL   J Biol Chem 291 (3), 1427-1440 (2016)
   PUBMED   26620560
  REMARK    GeneRIF: Data suggest RUTBC1/SGSM2 in melanocytes functions as
            physiological GTPase-activating protein for Rab32/Rab38 in
            regulation of transport of melanogenic enzymes (tyrosinase,
            tyrosinase-related protein 1, dopachrome isomerase) into
            melanosomes.
REFERENCE   5  (residues 1 to 1006)
  AUTHORS   Strawbridge RJ, Dupuis J, Prokopenko I, Barker A, Ahlqvist E, Rybin
            D, Petrie JR, Travers ME, Bouatia-Naji N, Dimas AS, Nica A, Wheeler
            E, Chen H, Voight BF, Taneera J, Kanoni S, Peden JF, Turrini F,
            Gustafsson S, Zabena C, Almgren P, Barker DJ, Barnes D, Dennison
            EM, Eriksson JG, Eriksson P, Eury E, Folkersen L, Fox CS, Frayling
            TM, Goel A, Gu HF, Horikoshi M, Isomaa B, Jackson AU, Jameson KA,
            Kajantie E, Kerr-Conte J, Kuulasmaa T, Kuusisto J, Loos RJ, Luan J,
            Makrilakis K, Manning AK, Martinez-Larrad MT, Narisu N, Nastase
            Mannila M, Ohrvik J, Osmond C, Pascoe L, Payne F, Sayer AA,
            Sennblad B, Silveira A, Stancakova A, Stirrups K, Swift AJ, Syvanen
            AC, Tuomi T, van 't Hooft FM, Walker M, Weedon MN, Xie W, Zethelius
            B, Ongen H, Malarstig A, Hopewell JC, Saleheen D, Chambers J,
            Parish S, Danesh J, Kooner J, Ostenson CG, Lind L, Cooper CC,
            Serrano-Rios M, Ferrannini E, Forsen TJ, Clarke R, Franzosi MG,
            Seedorf U, Watkins H, Froguel P, Johnson P, Deloukas P, Collins FS,
            Laakso M, Dermitzakis ET, Boehnke M, McCarthy MI, Wareham NJ, Groop
            L, Pattou F, Gloyn AL, Dedoussis GV, Lyssenko V, Meigs JB, Barroso
            I, Watanabe RM, Ingelsson E, Langenberg C, Hamsten A and Florez JC.
  CONSRTM   DIAGRAM Consortium; GIANT Consortium; MuTHER Consortium; CARDIoGRAM
            Consortium; C4D Consortium
  TITLE     Genome-wide association identifies nine common variants associated
            with fasting proinsulin levels and provides new insights into the
            pathophysiology of type 2 diabetes
  JOURNAL   Diabetes 60 (10), 2624-2634 (2011)
   PUBMED   21873549
REFERENCE   6  (residues 1 to 1006)
  AUTHORS   Nottingham RM, Ganley IG, Barr FA, Lambright DG and Pfeffer SR.
  TITLE     RUTBC1 protein, a Rab9A effector that activates GTP hydrolysis by
            Rab32 and Rab33B proteins
  JOURNAL   J Biol Chem 286 (38), 33213-33222 (2011)
   PUBMED   21808068
  REMARK    GeneRIF: RUTBC1 is a Tre2/Bub2/Cdc16 domain-containing protein that
            binds to Rab9A-GTP both in vitro and in cultured cells, but is not
            a GTPase-activating protein for Rab9A.
REFERENCE   7  (residues 1 to 1006)
  AUTHORS   Vasan RS, Glazer NL, Felix JF, Lieb W, Wild PS, Felix SB, Watzinger
            N, Larson MG, Smith NL, Dehghan A, Grosshennig A, Schillert A,
            Teumer A, Schmidt R, Kathiresan S, Lumley T, Aulchenko YS, Konig
            IR, Zeller T, Homuth G, Struchalin M, Aragam J, Bis JC, Rivadeneira
            F, Erdmann J, Schnabel RB, Dorr M, Zweiker R, Lind L, Rodeheffer
            RJ, Greiser KH, Levy D, Haritunians T, Deckers JW, Stritzke J,
            Lackner KJ, Volker U, Ingelsson E, Kullo I, Haerting J, O'Donnell
            CJ, Heckbert SR, Stricker BH, Ziegler A, Reffelmann T, Redfield MM,
            Werdan K, Mitchell GF, Rice K, Arnett DK, Hofman A, Gottdiener JS,
            Uitterlinden AG, Meitinger T, Blettner M, Friedrich N, Wang TJ,
            Psaty BM, van Duijn CM, Wichmann HE, Munzel TF, Kroemer HK,
            Benjamin EJ, Rotter JI, Witteman JC, Schunkert H, Schmidt H, Volzke
            H and Blankenberg S.
  TITLE     Genetic variants associated with cardiac structure and function: a
            meta-analysis and replication of genome-wide association data
  JOURNAL   JAMA 302 (2), 168-178 (2009)
   PUBMED   19584346
REFERENCE   8  (residues 1 to 1006)
  AUTHORS   Ishibashi K, Kanno E, Itoh T and Fukuda M.
  TITLE     Identification and characterization of a novel Tre-2/Bub2/Cdc16
            (TBC) protein that possesses Rab3A-GAP activity
  JOURNAL   Genes Cells 14 (1), 41-52 (2009)
   PUBMED   19077034
REFERENCE   9  (residues 1 to 1006)
  AUTHORS   Yang H, Sasaki T, Minoshima S and Shimizu N.
  TITLE     Identification of three novel proteins (SGSM1, 2, 3) which modulate
            small G protein (RAP and RAB)-mediated signaling pathway
  JOURNAL   Genomics 90 (2), 249-260 (2007)
   PUBMED   17509819
  REMARK    GeneRIF: Identification of novel protein SGSM2 which modulate small
            G protein (RAP and RAB)-mediated signaling pathway
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL450226.1, AB007857.3 and
            BC029251.1.
            
            Summary: The protein encoded by this gene is a GTPase activator
            with activity towards RAB32 and RAB33B, which are regulators of
            membrane trafficking. The encoded protein inactivates RAB32 and can
            bind RAB9A-GTP, a protein required for RAB32 activation. [provided
            by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (2) has the same
            N- and C-termini but is shorter compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB007857.3, SRR1803613.203682.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1006
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     Protein         1..1006
                     /product="small G protein signaling modulator 2 isoform 2"
                     /EC_number="5.1.1.18"
                     /note="RUN and TBC1 domain containing 1; small G protein
                     signaling modulator 2 protein"
                     /calculated_mol_wt=113154
     Region          18..197
                     /region_name="RUN_SGSM2"
                     /note="RUN domain found in small G protein signaling
                     modulator 2 (SGSM2) and similar proteins; cd17704"
                     /db_xref="CDD:439066"
     Region          96..120
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43147.4)"
     Region          205..232
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43147.4)"
     Region          256..424
                     /region_name="PH_RUTBC"
                     /note="Rab-binding Pleckstrin homology domain (PH) of
                     small G-protein signaling modulator 1 and similar
                     proteins; cd15784"
                     /db_xref="CDD:275431"
     Site            402
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q80U12; propagated from
                     UniProtKB/Swiss-Prot (O43147.4)"
     Region          657..768
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43147.4)"
     Region          <794..962
                     /region_name="TBC"
                     /note="Domain in Tre-2, BUB2p, and Cdc16p. Probable
                     Rab-GAPs; smart00164"
                     /db_xref="CDD:214540"
     CDS             1..1006
                     /gene="SGSM2"
                     /gene_synonym="RUTBC1"
                     /coded_by="NM_001098509.2:189..3209"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS45570.1"
                     /db_xref="GeneID:9905"
                     /db_xref="HGNC:HGNC:29026"
                     /db_xref="MIM:611418"
ORIGIN      
        1 mgsaedavke kllwnvkkev kqimeeavtr kfvhedsshi ialcgaveac llhqlrrraa
       61 gflrsdkmaa lftkvgktcp vageichkvq elqqqaegrk psgvsqealr rqgsasgkap
      121 alspqalkhv wvrtaliekv ldkvvqylae ncskyyekea lladpvfgpi lasllvgpca
      181 leytklktad hywtdpsade lvqrhrirgp ptrqdspakr palgirkrhs sgsasedrla
      241 acarecvesl hqnsrtrlly gknhvlvqpk edmeavpgyl slhqsaeslt lkwtpnqlmn
      301 gtlgdselek svywdyalvv pfsqvvcihc hqqksggtlv lvsqdgiqrp plhfpqgghl
      361 lsflscleng llprgqlepp lwtqqgkgkv fpklrkrssi rsvdmeemgt gratdyvfri
      421 iypghrhehn agdmiemqgf gpslpawhle plcsqgsscl scssssspha tpshcscipd
      481 rlplrllces mkrqivsraf ygwlahcrhl stvrthlsal vhhsvippdr ppgasagltk
      541 dvwskyqkdk knykelellr qvyyggiehe irkdvwpfll ghykfgmskk emeqvdavva
      601 aryqqvlaew kacevvvrqr ereahpatrt kfssgssids hvqrlihrds tisndvfisv
      661 ddleppepqd pedsrpkpeq eagpgtpgta vveqqhsvef dspdsglpss rnysvasgiq
      721 ssldegqsvg feeedgggee gssgpgpaah tlrepqdpsq ekpqagelea geelaavcaa
      781 aytielldtv alnlhridkd vqrcdrnywy ftppnlerlr dvmcsyvweh ldvgyvqgmc
      841 dllapllvtl dndqlayscf shlmkrmsqn fpnggamdth fanmrsliqi ldselfelmh
      901 qngdythfyf cyrwflldfk rellyedvfa vweviwaarh issehfvlfi alalveayre
      961 iirdnnmdft diikffnera ehhdaqeilr iardlvhkvq mlienk
//
LOCUS       NP_036368                591 aa            linear   PRI 27-DEC-2022
DEFINITION  polycomb protein SCMH1 isoform b [Homo sapiens].
ACCESSION   NP_036368
VERSION     NP_036368.1
DBSOURCE    REFSEQ: accession NM_012236.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 591)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 591)
  AUTHORS   Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM,
            Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML,
            Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI,
            Hakonarson H and Grant SF.
  TITLE     The role of height-associated loci identified in genome wide
            association studies in the determination of pediatric stature
  JOURNAL   BMC Med Genet 11, 96 (2010)
   PUBMED   20546612
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 591)
  AUTHORS   Sovio U, Bennett AJ, Millwood IY, Molitor J, O'Reilly PF, Timpson
            NJ, Kaakinen M, Laitinen J, Haukka J, Pillas D, Tzoulaki I, Molitor
            J, Hoggart C, Coin LJ, Whittaker J, Pouta A, Hartikainen AL,
            Freimer NB, Widen E, Peltonen L, Elliott P, McCarthy MI and
            Jarvelin MR.
  TITLE     Genetic determinants of height growth assessed longitudinally from
            infancy to adulthood in the northern Finland birth cohort 1966
  JOURNAL   PLoS Genet 5 (3), e1000409 (2009)
   PUBMED   19266077
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 591)
  AUTHORS   Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M,
            Freathy RM, Perry JR, Stevens S, Hall AS, Samani NJ, Shields B,
            Prokopenko I, Farrall M, Dominiczak A, Johnson T, Bergmann S,
            Beckmann JS, Vollenweider P, Waterworth DM, Mooser V, Palmer CN,
            Morris AD, Ouwehand WH, Zhao JH, Li S, Loos RJ, Barroso I, Deloukas
            P, Sandhu MS, Wheeler E, Soranzo N, Inouye M, Wareham NJ, Caulfield
            M, Munroe PB, Hattersley AT, McCarthy MI and Frayling TM.
  CONSRTM   Diabetes Genetics Initiative; Wellcome Trust Case Control
            Consortium; Cambridge GEM Consortium
  TITLE     Genome-wide association analysis identifies 20 loci that influence
            adult height
  JOURNAL   Nat Genet 40 (5), 575-583 (2008)
   PUBMED   18391952
REFERENCE   5  (residues 1 to 591)
  AUTHORS   Luo L, Yang X, Takihara Y, Knoetgen H and Kessel M.
  TITLE     The cell-cycle regulator geminin inhibits Hox function through
            direct and polycomb-mediated interactions
  JOURNAL   Nature 427 (6976), 749-753 (2004)
   PUBMED   14973489
REFERENCE   6  (residues 1 to 591)
  AUTHORS   Levine SS, Weiss A, Erdjument-Bromage H, Shao Z, Tempst P and
            Kingston RE.
  TITLE     The core of the polycomb repressive complex is compositionally and
            functionally conserved in flies and humans
  JOURNAL   Mol Cell Biol 22 (17), 6070-6078 (2002)
   PUBMED   12167701
REFERENCE   7  (residues 1 to 591)
  AUTHORS   Tomotsune D, Takihara Y, Berger J, Duhl D, Joo S, Kyba M, Shirai M,
            Ohta H, Matsuda Y, Honda BM, Simon J, Shimada K, Brock HW and
            Randazzo F.
  TITLE     A novel member of murine Polycomb-group proteins, Sex comb on
            midleg homolog protein, is highly conserved, and interacts with
            RAE28/mph1 in vitro
  JOURNAL   Differentiation 65 (4), 229-239 (1999)
   PUBMED   10653359
REFERENCE   8  (residues 1 to 591)
  AUTHORS   Berger J, Kurahashi H, Takihara Y, Shimada K, Brock HW and Randazzo
            F.
  TITLE     The human homolog of Sex comb on midleg (SCMH1) maps to chromosome
            1p34
  JOURNAL   Gene 237 (1), 185-191 (1999)
   PUBMED   10524249
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL606484.9, AF149045.1, BC009752.2 and BC021252.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1320560.1,
                                           SRR18074967.325708.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..591
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..591
                     /product="polycomb protein SCMH1 isoform b"
                     /note="polycomb protein SCMH1; sex comb on midleg homolog
                     1"
                     /calculated_mol_wt=65350
     Region          2..110
                     /region_name="MBT"
                     /note="malignant brain tumor (MBT) repeat; cl45897"
                     /db_xref="CDD:459242"
     Site            order(21,24,27,29,45,48,52)
                     /site_type="other"
                     /note="putative methyllysine peptide binding site
                     [polypeptide binding]"
                     /db_xref="CDD:439080"
     Region          115..189
                     /region_name="MBT_SCMH1_rpt2"
                     /note="second malignant brain tumor (MBT) repeat found in
                     Polycomb protein sex comb on midleg homolog 1 (SCMH1) and
                     similar proteins; cd20108"
                     /db_xref="CDD:439098"
     Site            order(130,133,135..136,138,154,157,161,187..189)
                     /site_type="other"
                     /note="methyllysine peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:439098"
     Region          <186..310
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          224..277
                     /region_name="RBR"
                     /note="RNA binding Region; pfam17208"
                     /db_xref="CDD:435787"
     Region          311..419
                     /region_name="SLED"
                     /note="SLED domain; pfam12140"
                     /db_xref="CDD:432357"
     Region          518..588
                     /region_name="SAM_Scm"
                     /note="SAM domain of Scm proteins of Polycomb group;
                     cd09578"
                     /db_xref="CDD:188977"
     Site            order(537,572..575,577..578,581,584)
                     /site_type="other"
                     /note="oligomer interface EH [polypeptide binding]"
                     /db_xref="CDD:188977"
     Site            order(549..553,555..556,559..560,563..564,566..569)
                     /site_type="other"
                     /note="oligomer interface ML [polypeptide binding]"
                     /db_xref="CDD:188977"
     CDS             1..591
                     /gene="SCMH1"
                     /gene_synonym="Scml3"
                     /coded_by="NM_012236.4:675..2450"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS461.1"
                     /db_xref="GeneID:22955"
                     /db_xref="HGNC:HGNC:19003"
                     /db_xref="MIM:616396"
ORIGIN      
        1 mqsytppsne fkismkleaq dprnttstci atvvgltgar lrlrldgsdn kndfwrlvds
       61 aeiqpignce knggmlqppl gfrlnasswp mfllktlnga emapirifhk eppspshnff
      121 kmgmkleavd rknphficpa tigevrgsev lvtfdgwrga fdywcrfdsr difpvgwcsl
      181 tgdnlqppgt kvvipknpyp asdvntekps ihsstktvle hqpgqrgrkp gkkrgrtpkt
      241 lishpisaps ktaeplkfpk krgpkpgskr kprtllnppp aspttstpep dtstvpqdaa
      301 tipssamqap tvciylnkng stgphldkkk vqqlpdhfgp arasvvlqqa vqacidcayh
      361 qktvfsflkq ghggevisav fdreqhtlnl pavnsityvl rfleklchnl rsdnlfgnqp
      421 ftqthlslta ieyshshdry lpgetfvlgn slarslephs dsmdsasnpt nlvstsqrhr
      481 pllsscglpp stasavrrlc srgsdryles rdasrlsgrd psswtvedvm qfvreadpql
      541 gphadlfrkh eidgkallll rsdmmmkymg lklgpalkls yhidrlkqgk f
//
LOCUS       NP_001363316             509 aa            linear   PRI 27-DEC-2022
DEFINITION  CUGBP Elav-like family member 1 isoform 9 [Homo sapiens].
ACCESSION   NP_001363316 XP_016872603
VERSION     NP_001363316.1
DBSOURCE    REFSEQ: accession NM_001376387.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 509)
  AUTHORS   David G, Reboutier D, Deschamps S, Mereau A, Taylor W,
            Padilla-Parra S, Tramier M, Audic Y and Paillard L.
  TITLE     The RNA-binding proteins CELF1 and ELAVL1 cooperatively control the
            alternative splicing of CD44
  JOURNAL   Biochem Biophys Res Commun 626, 79-84 (2022)
   PUBMED   35973378
  REMARK    GeneRIF: The RNA-binding proteins CELF1 and ELAVL1 cooperatively
            control the alternative splicing of CD44.
REFERENCE   2  (residues 1 to 509)
  AUTHORS   Zhao X, Wang J, Zhu R, Zhang J and Zhang Y.
  TITLE     DLX6-AS1 activated by H3K4me1 enhanced secondary cisplatin
            resistance of lung squamous cell carcinoma through modulating
            miR-181a-5p/miR-382-5p/CELF1 axis
  JOURNAL   Sci Rep 11 (1), 21014 (2021)
   PUBMED   34697393
  REMARK    GeneRIF: DLX6-AS1 activated by H3K4me1 enhanced secondary cisplatin
            resistance of lung squamous cell carcinoma through modulating
            miR-181a-5p/miR-382-5p/CELF1 axis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 509)
  AUTHORS   Liu C, Wang H, Tang L, Huang H, Xu M, Lin Y, Zhou L, Ho L, Lu J and
            Ai X.
  TITLE     LncRNA BACE1-AS enhances the invasive and metastatic capacity of
            hepatocellular carcinoma cells through mediating miR-377-3p/CELF1
            axis
  JOURNAL   Life Sci 275, 119288 (2021)
   PUBMED   33667514
  REMARK    GeneRIF: LncRNA BACE1-AS enhances the invasive and metastatic
            capacity of hepatocellular carcinoma cells through mediating
            miR-377-3p/CELF1 axis.
REFERENCE   4  (residues 1 to 509)
  AUTHORS   Jin H, Liang G, Yang L, Liu L, Wang B and Yan F.
  TITLE     SP1-induced AFAP1-AS1 contributes to proliferation and invasion by
            regulating miR-497-5p/CELF1 pathway in nasopharyngeal carcinoma
  JOURNAL   Hum Cell 34 (2), 491-501 (2021)
   PUBMED   33400247
  REMARK    GeneRIF: SP1-induced AFAP1-AS1 contributes to proliferation and
            invasion by regulating miR-497-5p/CELF1 pathway in nasopharyngeal
            carcinoma.
REFERENCE   5  (residues 1 to 509)
  AUTHORS   Wang H, Huang R, Guo W, Qin X, Yang Z, Yuan Z, Wei Y, Mo C, Zeng Z,
            Luo J, Cai J and Wang H.
  TITLE     RNA-binding protein CELF1 enhances cell migration, invasion, and
            chemoresistance by targeting ETS2 in colorectal cancer
  JOURNAL   Clin Sci (Lond) 134 (14), 1973-1990 (2020)
   PUBMED   32677671
  REMARK    GeneRIF: RNA-binding protein CELF1 enhances cell migration,
            invasion, and chemoresistance by targeting ETS2 in colorectal
            cancer.
REFERENCE   6  (residues 1 to 509)
  AUTHORS   Michalowski S, Miller JW, Urbinati CR, Paliouras M, Swanson MS and
            Griffith J.
  TITLE     Visualization of double-stranded RNAs from the myotonic dystrophy
            protein kinase gene and interactions with CUG-binding protein
  JOURNAL   Nucleic Acids Res 27 (17), 3534-3542 (1999)
   PUBMED   10446244
REFERENCE   7  (residues 1 to 509)
  AUTHORS   Roberts R, Timchenko NA, Miller JW, Reddy S, Caskey CT, Swanson MS
            and Timchenko LT.
  TITLE     Altered phosphorylation and intracellular distribution of a (CUG)n
            triplet repeat RNA-binding protein in patients with myotonic
            dystrophy and in myotonin protein kinase knockout mice
  JOURNAL   Proc Natl Acad Sci U S A 94 (24), 13221-13226 (1997)
   PUBMED   9371827
REFERENCE   8  (residues 1 to 509)
  AUTHORS   Timchenko LT, Miller JW, Timchenko NA, DeVore DR, Datar KV, Lin L,
            Roberts R, Caskey CT and Swanson MS.
  TITLE     Identification of a (CUG)n triplet repeat RNA-binding protein and
            its expression in myotonic dystrophy
  JOURNAL   Nucleic Acids Res 24 (22), 4407-4414 (1996)
   PUBMED   8948631
REFERENCE   9  (residues 1 to 509)
  AUTHORS   Bhagavati S, Ghatpande A and Leung B.
  TITLE     Identification of two nuclear proteins which bind to RNA CUG
            repeats: significance for myotonic dystrophy
  JOURNAL   Biochem Biophys Res Commun 228 (1), 55-62 (1996)
   PUBMED   8912635
  REMARK    Erratum:[Biochem Biophys Res Commun. 2008 Jun;370(3):530. Bhagwati,
            S [corrected to Bhagavati, S]]
REFERENCE   10 (residues 1 to 509)
  AUTHORS   Timchenko LT, Timchenko NA, Caskey CT and Roberts R.
  TITLE     Novel proteins with binding specificity for DNA CTG repeats and RNA
            CUG repeats: implications for myotonic dystrophy
  JOURNAL   Hum Mol Genet 5 (1), 115-121 (1996)
   PUBMED   8789448
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090559.7.
            On Nov 14, 2019 this sequence version replaced XP_016872603.1.
            
            Summary: Members of the CELF/BRUNOL protein family contain two
            N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM
            domain, and a divergent segment of 160-230 aa between the second
            and third RRM domains. Members of this protein family regulate
            pre-mRNA alternative splicing and may also be involved in mRNA
            editing, and translation. This gene may play a role in myotonic
            dystrophy type 1 (DM1) via interactions with the dystrophia
            myotonica-protein kinase (DMPK) gene. Alternative splicing results
            in multiple transcript variants encoding different isoforms.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.649747.1,
                                           SRR14038194.1813272.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..509
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..509
                     /product="CUGBP Elav-like family member 1 isoform 9"
                     /note="CUG RNA-binding protein; embryo deadenylation
                     element binding protein; nuclear polyadenylated
                     RNA-binding protein, 50-kD; bruno-like 2; CUG-BP- and
                     ETR-3-like factor 1; EDEN-BP homolog; bruno-like protein
                     2; deadenylation factor CUG-BP; RNA-binding protein
                     BRUNOL-2; CUG triplet repeat RNA-binding protein 1; 50 kDa
                     nuclear polyadenylated RNA-binding protein; embryo
                     deadenylation element-binding protein homolog"
                     /calculated_mol_wt=54423
     Region          42..125
                     /region_name="RRM1_CELF1_2_Bruno"
                     /note="RNA recognition motif 1 (RRM1) found in CUGBP
                     Elav-like family member CELF-1, CELF-2, Drosophila
                     melanogaster Bruno protein and similar proteins; cd12631"
                     /db_xref="CDD:410040"
     Site            order(46,48..49,52,73..76,78..79,86..88,90,120,122,
                     124..125)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410040"
     Region          134..214
                     /region_name="RRM2_CELF1_2"
                     /note="RNA recognition motif 2 (RRM2) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12634"
                     /db_xref="CDD:410042"
     Site            order(136,138,140..141,144,163,165,167,175..177,179,
                     205..206,209,211,213..214)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410042"
     Region          417..508
                     /region_name="RRM3_CELF1_2"
                     /note="RNA recognition motif 3 (RRM3) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12638"
                     /db_xref="CDD:241082"
     CDS             1..509
                     /gene="CELF1"
                     /gene_synonym="BRUNOL2; CUG-BP; CUGBP; CUGBP1; EDEN-BP;
                     hNab50; NAB50; NAPOR"
                     /coded_by="NM_001376387.1:335..1864"
                     /note="isoform 9 is encoded by transcript variant 25"
                     /db_xref="GeneID:10658"
                     /db_xref="HGNC:HGNC:2549"
                     /db_xref="MIM:601074"
ORIGIN      
        1 maafkldflp emmvdhcsln sspvskkmng tldhpdqpdl daikmfvgqv prtwsekdlr
       61 elfeqygavy einvlrdrsq nppqskgccf vtfytrkaal eaqnalhnmk vlpgmhhpiq
      121 mkpadseknn avedrklfig miskkctend irvmfssfgq ieecrilrgp dglsrgcafv
      181 tfttramaqt aikamhqaqt megcsspmvv kfadtqkdke qkrmaqqlqq qmqqisaasv
      241 wgnlaglntl gpqylallqq tassgnlntl sslhpmggln amqlqnlaal aaaasaaqnt
      301 psgtnaltts ssplsvltss gsspsssssn svnpiaslga lqtlagatag lnvgslagma
      361 alngglgssg lsngtgstme altqaysgiq qyaaaalptl ynqnlltqqs igaagsqkeg
      421 peganlfiyh lpqefgdqdl lqmfmpfgnv vsakvfidkq tnlskcfgfv sydnpvsaqa
      481 aiqsmngfqi gmkrlkvqlk rskndskpy
//
LOCUS       NP_001369579             367 aa            linear   PRI 29-DEC-2022
DEFINITION  muscleblind-like protein 2 isoform 1 [Homo sapiens].
ACCESSION   NP_001369579
VERSION     NP_001369579.1
DBSOURCE    REFSEQ: accession NM_001382650.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 367)
  AUTHORS   Cai J, Wang N, Lin G, Zhang H, Xie W, Zhang Y and Xu N.
  TITLE     MBNL2 Regulates DNA Damage Response via Stabilizing p21
  JOURNAL   Int J Mol Sci 22 (2), 783 (2021)
   PUBMED   33466733
  REMARK    GeneRIF: MBNL2 Regulates DNA Damage Response via Stabilizing p21.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 367)
  AUTHORS   Zhao A, Li Y, Niu M, Li G, Luo N, Zhou L, Kang W and Liu J.
  TITLE     SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with
            Parkinson's disease in southern Chinese population
  JOURNAL   J Cell Mol Med 24 (15), 8744-8752 (2020)
   PUBMED   32652860
  REMARK    GeneRIF: SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated
            with Parkinson's disease in southern Chinese population.
REFERENCE   3  (residues 1 to 367)
  AUTHORS   Fischer S, Di Liddo A, Taylor K, Gerhardus JS, Sobczak K, Zarnack K
            and Weigand JE.
  TITLE     Muscleblind-like 2 controls the hypoxia response of cancer cells
  JOURNAL   RNA 26 (5), 648-663 (2020)
   PUBMED   32127384
  REMARK    GeneRIF: MBNL2 induction was critical for hypoxia adaptation by
            controlling the transcript abundance of hypoxia response genes,
            such as vascular endothelial growth factor A (VEGFA) MBNL2
            depletion reduced the proliferation and migration of cancer cells,
            demonstrating an important role of MBNL2 as cancer driver.
REFERENCE   4  (residues 1 to 367)
  AUTHORS   Cerro-Herreros E, Sabater-Arcis M, Fernandez-Costa JM, Moreno N,
            Perez-Alonso M, Llamusi B and Artero R.
  TITLE     miR-23b and miR-218 silencing increase Muscleblind-like expression
            and alleviate myotonic dystrophy phenotypes in mammalian models
  JOURNAL   Nat Commun 9 (1), 2482 (2018)
   PUBMED   29946070
  REMARK    GeneRIF: Functional depletion of the alternative splicing factors
            Muscleblind-like (MBNL 1 and 2) is at the basis of the
            neuromuscular disease myotonic dystrophy type 1 (DM1). Here, we
            screen for miRNAs that regulate MBNL1 and MBNL2 in HeLa cells. We
            thus identify miR-23b and miR-218, and confirm that they
            downregulate MBNL proteins in this cell line.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 367)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (residues 1 to 367)
  AUTHORS   Paul S, Dansithong W, Kim D, Rossi J, Webster NJ, Comai L and Reddy
            S.
  TITLE     Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in
            DM1-associated aberrant IR splicing
  JOURNAL   EMBO J 25 (18), 4271-4283 (2006)
   PUBMED   16946708
REFERENCE   7  (residues 1 to 367)
  AUTHORS   Adereth Y, Dammai V, Kose N, Li R and Hsu T.
  TITLE     RNA-dependent integrin alpha3 protein localization regulated by the
            Muscleblind-like protein MLP1
  JOURNAL   Nat Cell Biol 7 (12), 1240-1247 (2005)
   PUBMED   16273094
  REMARK    Erratum:[Nat Cell Biol. 2006 Jan;8(1):100]
REFERENCE   8  (residues 1 to 367)
  AUTHORS   Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS and Cooper TA.
  TITLE     Muscleblind proteins regulate alternative splicing
  JOURNAL   EMBO J 23 (15), 3103-3112 (2004)
   PUBMED   15257297
  REMARK    GeneRIF: MBNL proteins promote opposite splicing patterns for
            cardiac troponin T and insulin receptor alternative exons
REFERENCE   9  (residues 1 to 367)
  AUTHORS   Christian SL, McDonough J, Liu Cy CY, Shaikh S, Vlamakis V, Badner
            JA, Chakravarti A and Gershon ES.
  TITLE     An evaluation of the assembly of an approximately 15-Mb region on
            human chromosome 13q32-q33 linked to bipolar disorder and
            schizophrenia
  JOURNAL   Genomics 79 (5), 635-656 (2002)
   PUBMED   11991713
REFERENCE   10 (residues 1 to 367)
  AUTHORS   Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS
            and Brook JD.
  TITLE     Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with
            nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
  JOURNAL   Hum Mol Genet 11 (7), 805-814 (2002)
   PUBMED   11929853
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359925.9, AL161430.19 and
            AL442067.16.
            
            Summary: This gene is a member of the muscleblind protein family
            which was initially described in Drosophila melanogaster. This gene
            encodes a C3H-type zinc finger protein that modulates alternative
            splicing of pre-mRNAs. Muscleblind proteins bind specifically to
            expanded dsCUG RNA but not to normal size CUG repeats and may
            thereby play a role in the pathophysiology of myotonic dystrophy.
            Several alternatively spliced transcript variants have been
            described but the full-length natures of only some have been
            determined. [provided by RefSeq, Mar 2012].
            
            Transcript Variant: This variant (6), as well as variants 1 and 5,
            encodes isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853562.9024.1,
                                           SRR11853558.6525.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.1"
     Protein         1..367
                     /product="muscleblind-like protein 2 isoform 1"
                     /note="muscleblind-like protein 2; muscleblind-like
                     protein 1; muscleblind-like protein-like 39;
                     muscleblind-like 2"
                     /calculated_mol_wt=39203
     Region          17..40
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     Region          178..202
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     CDS             1..367
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /coded_by="NM_001382650.1:679..1782"
                     /note="isoform 1 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS9484.1"
                     /db_xref="GeneID:10150"
                     /db_xref="HGNC:HGNC:16746"
                     /db_xref="MIM:607327"
ORIGIN      
        1 malnvapvrd tkwltlevcr qfqrgtcsrs deeckfahpp kscqvengrv iacfdslkgr
       61 csrenckylh ppthlktqle ingrnnliqq ktaaamlaqq mqfmfpgtpl hpvptfpvgp
      121 aigtntaisf apylapvtpg vglvpteilp ttpvivpgsp pvtvpgstat qkllrtdkle
      181 vcrefqrgnc argetdcrfa hpadstmidt sdntvtvcmd yikgrcmrek ckyfhppahl
      241 qakikaaqhq anqaavaaqa aaaaatvmaf ppgalhplpk rqaleksngt savfnpsvlh
      301 yqqaltsaql qqhaafiptg svlcmtpats ivpmmhsats atvsaattpa tsvpfaatat
      361 anqiilk
//
LOCUS       NP_036510                311 aa            linear   PRI 29-DEC-2022
DEFINITION  olfactory receptor 8B8 [Homo sapiens].
ACCESSION   NP_036510
VERSION     NP_036510.1
DBSOURCE    REFSEQ: accession NM_012378.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 311)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (residues 1 to 311)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
REFERENCE   3  (residues 1 to 311)
  AUTHORS   Gaudin JC, Breuils L and Haertle T.
  TITLE     New GPCRs from a human lingual cDNA library
  JOURNAL   Chem Senses 26 (9), 1157-1166 (2001)
   PUBMED   11705801
REFERENCE   4  (residues 1 to 311)
  AUTHORS   Vanderhaeghen P, Schurmans S, Vassart G and Parmentier M.
  TITLE     Specific repertoire of olfactory receptor genes in the male germ
            cells of several mammalian species
  JOURNAL   Genomics 39 (3), 239-246 (1997)
   PUBMED   9119360
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000916.6.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000642064.1/
                                                ENSP00000493014.1
            RefSeq Select criteria           :: based on single protein-coding
                                                transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..311
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     Protein         1..311
                     /product="olfactory receptor 8B8"
                     /note="olfactory-like receptor JCG8; olfactory receptor
                     OR11-316; olfactory receptor TPCR85"
                     /calculated_mol_wt=34351
     Site            5
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15620.2)"
     Region          25..301
                     /region_name="7tmA_OR8B-like"
                     /note="olfactory receptor subfamily 8B and related
                     proteins, member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15405"
                     /db_xref="CDD:320527"
     Region          26..52
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320527"
     Site            26..46
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15620.2)"
     Site            55..75
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15620.2)"
     Region          59..85
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320527"
     Site            order(81,84..85,97..102,104..105,108,153,155..159,195,
                     198..200,202..204,206..207,252,255..256,258..259,262,
                     268..269,271..273,276,279..280)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320527"
     Region          97..127
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320527"
     Site            100..120
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15620.2)"
     Region          140..161
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320527"
     Site            140..160
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15620.2)"
     Region          195..225
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320527"
     Site            198..217
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15620.2)"
     Region          232..262
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320527"
     Site            238..258
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15620.2)"
     Region          269..294
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320527"
     Site            272..292
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15620.2)"
     CDS             1..311
                     /gene="OR8B8"
                     /gene_synonym="TPCR85"
                     /coded_by="NM_012378.2:274..1209"
                     /db_xref="CCDS:CCDS8446.1"
                     /db_xref="GeneID:26493"
                     /db_xref="HGNC:HGNC:8477"
ORIGIN      
        1 maaenssfvt qfilagltdq pgvqiplffl flgfyvvtvv gnlglitlir lnshlhtpmy
       61 fflynlsfid fcyssvitpk mlmsfvlkkn sisyagcmtq lffflffvvs esfilsamay
      121 dryvaicnpl lymvtmspqv cfllllgvyg mgfagamaht acmmgvtfca nnlvnhymcd
      181 ilpllecact styvnelvvf vvvgidigvp tvtifisyal ilssifhids tegrskafst
      241 csshiiavsl ffgsgafmyl kpfsllamnq gkvsslfytt vvpmlnpliy slrnkdvkva
      301 lkkilnknaf s
//
LOCUS       NP_710161                236 aa            linear   PRI 30-DEC-2022
DEFINITION  synaptonemal complex protein 3 [Homo sapiens].
ACCESSION   NP_710161
VERSION     NP_710161.1
DBSOURCE    REFSEQ: accession NM_153694.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 236)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 236)
  AUTHORS   Kobayashi W, Hosoya N, Machida S, Miyagawa K and Kurumizaka H.
  TITLE     SYCP3 regulates strand invasion activities of RAD51 and DMC1
  JOURNAL   Genes Cells 22 (9), 799-809 (2017)
   PUBMED   28745000
  REMARK    GeneRIF: SYCP3 binds to RAD51 and attenuates RAD51 activity during
            meiosis.
REFERENCE   3  (residues 1 to 236)
  AUTHORS   Kitano H, Chung JY, Noh KH, Lee YH, Kim TW, Lee SH, Eo SH, Cho HJ,
            Choi CH, Inoue S, Hanaoka J, Fukuoka J and Hewitt SM.
  TITLE     Synaptonemal complex protein 3 is associated with lymphangiogenesis
            in non-small cell lung cancer patients with lymph node metastasis
  JOURNAL   J Transl Med 15 (1), 138 (2017)
   PUBMED   28623914
  REMARK    GeneRIF: SCP3 is associated with lymphangiogenesis and provides
            insight into the SCP3-VEGF-C/VEGF-D axis based cancer therapy
            strategy.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 236)
  AUTHORS   Syrjanen JL, Heller I, Candelli A, Davies OR, Peterman EJ, Wuite GJ
            and Pellegrini L.
  TITLE     Single-molecule observation of DNA compaction by meiotic protein
            SYCP3
  JOURNAL   Elife 6, e22582 (2017)
   PUBMED   28287952
  REMARK    GeneRIF: In the model, the reported compaction of chromosomal DNA
            caused by SYCP3 would result from its ability to bridge distant
            sites on a DNA molecule with the DNA-binding domains located at
            each end of its strut-like structure.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 236)
  AUTHORS   Sazegari A, Kalantar SM, Pashaiefar H, Mohtaram S, Honarvar N,
            Feizollahi Z and Ghasemi N.
  TITLE     The T657C polymorphism on the SYCP3 gene is associated with
            recurrent pregnancy loss
  JOURNAL   J Assist Reprod Genet 31 (10), 1377-1381 (2014)
   PUBMED   25059562
  REMARK    GeneRIF: The T657C polymorphism of the SYCP3 gene is possibly
            associated with recurrent pregnancy loss of unknown cause in human.
REFERENCE   6  (residues 1 to 236)
  AUTHORS   de Boer P, Giele M, Lock MT, de Rooij DG, Giltay J, Hochstenbach R
            and te Velde ER.
  TITLE     Kinetics of meiosis in azoospermic males: a joint histological and
            cytological approach
  JOURNAL   Cytogenet Genome Res 105 (1), 36-46 (2004)
   PUBMED   15218256
REFERENCE   7  (residues 1 to 236)
  AUTHORS   Miyamoto T, Hasuike S, Yogev L, Maduro MR, Ishikawa M, Westphal H
            and Lamb DJ.
  TITLE     Azoospermia in patients heterozygous for a mutation in SYCP3
  JOURNAL   Lancet 362 (9397), 1714-1719 (2003)
   PUBMED   14643120
  REMARK    GeneRIF: We suggest that SYCP3 has an essential meiotic function in
            human spermatogenesis that is compromised by the mutant protein via
            dominant negative interference.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 236)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N,
            Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar
            M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   9  (residues 1 to 236)
  AUTHORS   Mallon AM, Platzer M, Bate R, Gloeckner G, Botcherby MR, Nordsiek
            G, Strivens MA, Kioschis P, Dangel A, Cunningham D, Straw RN,
            Weston P, Gilbert M, Fernando S, Goodall K, Hunter G, Greystrong
            JS, Clarke D, Kimberley C, Goerdes M, Blechschmidt K, Rump A,
            Hinzmann B, Mundy CR, Miller W, Poustka A, Herman GE, Rhodes M,
            Denny P, Rosenthal A and Brown SD.
  TITLE     Comparative genome sequence analysis of the Bpa/Str region in mouse
            and Man
  JOURNAL   Genome Res 10 (6), 758-775 (2000)
   PUBMED   10854409
REFERENCE   10 (residues 1 to 236)
  AUTHORS   Chen J, Silver DP, Walpita D, Cantor SB, Gazdar AF, Tomlinson G,
            Couch FJ, Weber BL, Ashley T, Livingston DM and Scully R.
  TITLE     Stable interaction between the products of the BRCA1 and BRCA2
            tumor suppressor genes in mitotic and meiotic cells
  JOURNAL   Mol Cell 2 (3), 317-328 (1998)
   PUBMED   9774970
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC062662.1 and BG202454.1.
            
            Summary: This gene encodes an essential structural component of the
            synaptonemal complex. This complex is involved in synapsis,
            recombination and segregation of meiotic chromosomes. Mutations in
            this gene are associated with azoospermia in males and
            susceptibility to pregnancy loss in females. Alternate splicing
            results in multiple transcript variants that encode the same
            protein. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC062662.1, SRR5189667.157423.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..236
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.2"
     Protein         1..236
                     /product="synaptonemal complex protein 3"
                     /calculated_mol_wt=27598
     Region          1..40
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZU3.1)"
     Site            36
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70281; propagated from
                     UniProtKB/Swiss-Prot (Q8IZU3.1)"
     Site            38
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q63520; propagated from
                     UniProtKB/Swiss-Prot (Q8IZU3.1)"
     Region          52..57
                     /region_name="Interaction with DNA.
                     /evidence=ECO:0000269|PubMed:24950965"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZU3.1)"
     Site            59
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70281; propagated from
                     UniProtKB/Swiss-Prot (Q8IZU3.1)"
     Region          69..74
                     /region_name="Important for oligomerization and fiber
                     formation. /evidence=ECO:0000269|PubMed:24950965"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZU3.1)"
     Region          83..206
                     /region_name="Cor1"
                     /note="Cor1/Xlr/Xmr conserved region; pfam04803"
                     /db_xref="CDD:428132"
     Region          88..91
                     /region_name="Interaction with DNA.
                     /evidence=ECO:0000269|PubMed:24950965"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZU3.1)"
     Region          88..91
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZU3.1)"
     Region          231..236
                     /region_name="Important for oligomerization and fiber
                     formation. /evidence=ECO:0000269|PubMed:24950965"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZU3.1)"
     CDS             1..236
                     /gene="SYCP3"
                     /gene_synonym="COR1; RPRGL4; SCP3; SPGF4"
                     /coded_by="NM_153694.5:126..836"
                     /db_xref="CCDS:CCDS9087.1"
                     /db_xref="GeneID:50511"
                     /db_xref="HGNC:HGNC:18130"
                     /db_xref="MIM:604759"
ORIGIN      
        1 mvssgkkysr ksgkpsvedq ftraydfete dkkdlsgsee dviegktavi ekrrkkrssa
       61 gvvedmggev qnmlegvgvd inkallakrk rlemytkasl ktsnqkiehv wktqqdqrqk
      121 lnqeysqqfl tlfqqwdldm qkaeeqeeki lnmfrqqqki lqqsrivqsq rlktikqlye
      181 qfiksmeele knhdnlltga qnefkkemam lqkkimmetq qqeiasvrks lqsmlf
//
LOCUS       NP_872352                236 aa            linear   PRI 30-DEC-2022
DEFINITION  V-set and transmembrane domain-containing protein 2A isoform 1
            precursor [Homo sapiens].
ACCESSION   NP_872352
VERSION     NP_872352.2
DBSOURCE    REFSEQ: accession NM_182546.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 236)
  AUTHORS   Dong Y, Zhang Y, Kang W, Wang G, Chen H, Higashimori A, Nakatsu G,
            Go M, Tong JH, Zheng S, To KF, Sung JJ, Yang X, Ng SS and Yu J.
  TITLE     VSTM2A suppresses colorectal cancer and antagonizes Wnt signaling
            receptor LRP6
  JOURNAL   Theranostics 9 (22), 6517-6531 (2019)
   PUBMED   31588233
  REMARK    GeneRIF: VSTM2A suppresses colorectal cancer and antagonizes Wnt
            signaling receptor LRP6.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 236)
  AUTHORS   Wang L, Zhang Y, Chen YB, Skala SL, Al-Ahmadie HA, Wang X, Cao X,
            Veeneman BA, Chen J, Cieslik M, Qiao Y, Su F, Vats P, Siddiqui J,
            Xiao H, Sadimin ET, Epstein JI, Zhou M, Sangoi AR, Trpkov K,
            Osunkoya AO, Giannico GA, McKenney JK, Argani P, Tickoo SK, Reuter
            VE, Chinnaiyan AM, Dhanasekaran SM and Mehra R.
  TITLE     VSTM2A Overexpression Is a Sensitive and Specific Biomarker for
            Mucinous Tubular and Spindle Cell Carcinoma (MTSCC) of the Kidney
  JOURNAL   Am J Surg Pathol 42 (12), 1571-1584 (2018)
   PUBMED   30285995
  REMARK    GeneRIF: VSTM2A overexpression to be a sensitive and specific
            marker for mucinous tubular and spindle cell carcinoma of the
            kidney.
REFERENCE   3  (residues 1 to 236)
  AUTHORS   Secco B, Camire E, Briere MA, Caron A, Billong A, Gelinas Y, Lemay
            AM, Tharp KM, Lee PL, Gobeil S, Guimond JV, Patey N, Guertin DA,
            Stahl A, Haddad E, Marsolais D, Bosse Y, Birsoy K and Laplante M.
  TITLE     Amplification of Adipogenic Commitment by VSTM2A
  JOURNAL   Cell Rep 18 (1), 93-106 (2017)
   PUBMED   28052263
  REMARK    GeneRIF: VSTM2A is produced to preserve and amplify the adipogenic
            capability of adipose precursors.
REFERENCE   4  (residues 1 to 236)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DN991972.1, BI754879.1, BI752069.1, BQ639021.1, BI458531.1 and
            EY892386.1.
            On Jun 8, 2007 this sequence version replaced NP_872352.1.
            
            Transcript Variant: This variant (1) encodes the shortest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.214085.1,
                                           SRR1803617.207485.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..236
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p11.2"
     Protein         1..236
                     /product="V-set and transmembrane domain-containing
                     protein 2A isoform 1 precursor"
                     /note="V-set and transmembrane domain containing 2; V-set
                     and transmembrane domain-containing protein 2A;
                     hypothetical protein MGC33530"
                     /calculated_mol_wt=23106
     sig_peptide     1..24
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2745
     Region          33..148
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Site            35
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TAG5.3)"
     Region          44..48
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          58..64
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          108..114
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Site            175
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TAG5.3)"
     Region          184..206
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAG5.3)"
     CDS             1..236
                     /gene="VSTM2A"
                     /gene_synonym="VSTM2"
                     /coded_by="NM_182546.4:357..1067"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS5512.2"
                     /db_xref="GeneID:222008"
                     /db_xref="HGNC:HGNC:28499"
ORIGIN      
        1 mmgiflvyvg fvffsvlyvq qglssqakft efprnvtate gqnvemscaf qsgsasvyle
       61 iqwwflrgpe dldpgaegag aqvellpdrd pdsdgtkist vkvqgndish klqiskvrkk
      121 deglyecrvt danygelqeh kaqaylkvna nsharrmqaf easpmwlqdm kprknvsaai
      181 pssihgsanq rthstsspqv vakipkqspq sgariatshg lsvlllvcgf vkgall
//
LOCUS       NP_001306070             232 aa            linear   PRI 30-DEC-2022
DEFINITION  adenylate kinase 2, mitochondrial isoform f [Homo sapiens].
ACCESSION   NP_001306070
VERSION     NP_001306070.1
DBSOURCE    REFSEQ: accession NM_001319141.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 232)
  AUTHORS   Kim H, Jeong M, Na DH, Ryu SH, Jeong EI, Jung K, Kang J, Lee HJ,
            Sim T, Yu DY, Yu HC, Cho BH and Jung YK.
  TITLE     AK2 is an AMP-sensing negative regulator of BRAF in tumorigenesis
  JOURNAL   Cell Death Dis 13 (5), 469 (2022)
   PUBMED   35585049
  REMARK    GeneRIF: AK2 is an AMP-sensing negative regulator of BRAF in
            tumorigenesis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 232)
  AUTHORS   Maslah N, Latiri M, Asnafi V, Feroul M, Bedjaoui N, Steimle T, Six
            E, Verhoyen E, Macintyre E, Lagresle-Peyrou C, Lhermitte L and
            Andrieu GP.
  TITLE     Adenylate kinase 2 expression and addiction in T-ALL
  JOURNAL   Blood Adv 5 (3), 700-710 (2021)
   PUBMED   33560378
  REMARK    GeneRIF: Adenylate kinase 2 expression and addiction in T-ALL.
REFERENCE   3  (residues 1 to 232)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 232)
  AUTHORS   Ichikawa S, Prockop S, Cunningham-Rundles C, Sifers T, Conner BR,
            Wu S, Karam R, Walsh MF and Fiala E.
  TITLE     Reticular dysgenesis caused by an intronic pathogenic variant in
            AK2
  JOURNAL   Cold Spring Harb Mol Case Stud 6 (3), a005017 (2020)
   PUBMED   32532877
  REMARK    GeneRIF: Reticular dysgenesis caused by an intronic pathogenic
            variant in AK2.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 232)
  AUTHORS   Noma T, Song S, Yoon YS, Tanaka S and Nakazawa A.
  TITLE     cDNA cloning and tissue-specific expression of the gene encoding
            human adenylate kinase isozyme 2
  JOURNAL   Biochim Biophys Acta 1395 (1), 34-39 (1998)
   PUBMED   9434148
REFERENCE   6  (residues 1 to 232)
  AUTHORS   Lee Y, Kim JW, Lee SM, Kim HJ, Lee KS, Park C and Choe IS.
  TITLE     Cloning and expression of human adenylate kinase 2 isozymes:
            differential expression of adenylate kinase 1 and 2 in human muscle
            tissues
  JOURNAL   J Biochem 123 (1), 47-54 (1998)
   PUBMED   9504408
REFERENCE   7  (residues 1 to 232)
  AUTHORS   Lee Y, Kim JW, Lee IA, Kang HB, Choe YK, Lee HG, Lim JS, Kim HJ,
            Park C and Choe IS.
  TITLE     Cloning and characterization of cDNA for human adenylate kinase 2A
  JOURNAL   Biochem Mol Biol Int 39 (4), 833-842 (1996)
   PUBMED   8843353
REFERENCE   8  (residues 1 to 232)
  AUTHORS   Hamada,M., Sumida,M., Okuda,H., Watanabe,T., Nojima,M. and
            Kuby,S.A.
  TITLE     Adenosine triphosphate-adenosine-5'-monophosphate
            phosphotransferase from normal human liver mitochondria. Isolation,
            chemical properties, and immunochemical comparison with Duchenne
            dystrophic serum aberrant adenylate kinase
  JOURNAL   J Biol Chem 257 (21), 13120-13128 (1982)
   PUBMED   6182143
REFERENCE   9  (residues 1 to 232)
  AUTHORS   Carritt,B., King,J. and Welch,H.M.
  TITLE     Gene order and localization of enzyme loci on the short arm of
            chromosome 1
  JOURNAL   Ann Hum Genet 46 (4), 329-335 (1982)
   PUBMED   6961883
REFERENCE   10 (residues 1 to 232)
  AUTHORS   Bruns,G.A. and Regina,V.M.
  TITLE     Adenylate kinase 2, a mitochondrial enzyme
  JOURNAL   Biochem Genet 15 (5-6), 477-486 (1977)
   PUBMED   195572
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY061267.1, AL557311.3 and
            AL020995.14.
            
            Summary: Adenylate kinases are involved in regulating the adenine
            nucleotide composition within a cell by catalyzing the reversible
            transfer of phosphate groups among adenine nucleotides. Three
            isozymes of adenylate kinase, namely 1, 2, and 3, have been
            identified in vertebrates; this gene encodes isozyme 2. Expression
            of these isozymes is tissue-specific and developmentally regulated.
            Isozyme 2 is localized in the mitochondrial intermembrane space and
            may play a role in apoptosis. Mutations in this gene are the cause
            of reticular dysgenesis. Alternate splicing results in multiple
            transcript variants. Pseudogenes of this gene are found on
            chromosomes 1 and 2.[provided by RefSeq, Nov 2010].
            
            Transcript Variant: This variant (6) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (f)
            has a shorter and distinct C-terminus compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.2122756.1,
                                           ERR4352442.396348.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..232
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.1"
     Protein         1..232
                     /product="adenylate kinase 2, mitochondrial isoform f"
                     /EC_number="2.7.4.3"
                     /note="adenylate kinase isoenzyme 2, mitochondrial;
                     ATP-AMP transphosphorylase 2; ATP:AMP phosphotransferase;
                     adenylate monophosphate kinase; testis secretory
                     sperm-binding protein Li 220n"
                     /calculated_mol_wt=25500
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378, ECO:0007744|PubMed:25944712;
                     propagated from UniProtKB/Swiss-Prot (P54819.2)"
     Site            4
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54819.2)"
     Region          20..204
                     /region_name="ADK"
                     /note="Adenylate kinase; pfam00406"
                     /db_xref="CDD:395329"
     Region          45..74
                     /region_name="NMP.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03168,
                     ECO:0000269|Ref.17"
                     /note="propagated from UniProtKB/Swiss-Prot (P54819.2)"
     Site            58
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54819.2)"
     Site            133
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P54819.2)"
     Region          141..178
                     /region_name="LID.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03168,
                     ECO:0000269|Ref.17"
                     /note="propagated from UniProtKB/Swiss-Prot (P54819.2)"
     Region          150..169
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P54819.2)"
     Site            181
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9WTP6; propagated from
                     UniProtKB/Swiss-Prot (P54819.2)"
     Site            195
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54819.2)"
     CDS             1..232
                     /gene="AK2"
                     /gene_synonym="ADK2"
                     /coded_by="NM_001319141.3:56..754"
                     /note="isoform f is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS81296.1"
                     /db_xref="GeneID:204"
                     /db_xref="HGNC:HGNC:362"
                     /db_xref="MIM:103020"
ORIGIN      
        1 mapsvpaaep eypkgiravl lgppgagkgt qaprlaenfc vchlatgdml ramvasgsel
       61 gkklkatmda gklvsdemvv elieknletp lckngflldg fprtvrqaem lddlmekrke
      121 kldsviefsi pdsllirrit grlihpksgr syheefnppk epmkdditge plirrsddne
      181 kalkirlqay htqttpliey yrkrgihsai dasqtpdvvf asilaafska tc
//
LOCUS       NP_001387019             754 aa            linear   PRI 01-JAN-2023
DEFINITION  MICOS complex subunit MIC60 isoform 6 [Homo sapiens].
ACCESSION   NP_001387019
VERSION     NP_001387019.1
DBSOURCE    REFSEQ: accession NM_001400090.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 754)
  AUTHORS   Marco-Hernandez AV, Tomas-Vila M, Montoya-Filardi A,
            Barranco-Gonzalez H, Vilchez Padilla JJ, Azorin I, Smeyers Dura P,
            Monfort-Membrado S, Pitarch-Castellano I and Martinez-Castellano F.
  TITLE     Mitochondrial developmental encephalopathy with bilateral optic
            neuropathy related to homozygous variants in IMMT gene
  JOURNAL   Clin Genet 101 (2), 233-241 (2022)
   PUBMED   34842280
  REMARK    GeneRIF: Mitochondrial developmental encephalopathy with bilateral
            optic neuropathy related to homozygous variants in IMMT gene.
REFERENCE   2  (residues 1 to 754)
  AUTHORS   Urbach J, Kondadi AK, David C, Naha R, Deinert K, Reichert AS and
            Anand R.
  TITLE     Conserved GxxxG and WN motifs of MIC13 are essential for bridging
            two MICOS subcomplexes
  JOURNAL   Biochim Biophys Acta Biomembr 1863 (12), 183683 (2021)
   PUBMED   34271005
  REMARK    GeneRIF: Conserved GxxxG and WN motifs of MIC13 are essential for
            bridging two MICOS subcomplexes.
REFERENCE   3  (residues 1 to 754)
  AUTHORS   Pape JK, Stephan T, Balzarotti F, Buchner R, Lange F, Riedel D,
            Jakobs S and Hell SW.
  TITLE     Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS proteins
  JOURNAL   Proc Natl Acad Sci U S A 117 (34), 20607-20614 (2020)
   PUBMED   32788360
  REMARK    GeneRIF: Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS
            proteins.
REFERENCE   4  (residues 1 to 754)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 754)
  AUTHORS   Liu T, Woo JA, Bukhari MZ, LePochat P, Chacko A, Selenica MB, Yan
            Y, Kotsiviras P, Buosi SC, Zhao X and Kang DE.
  TITLE     CHCHD10-regulated OPA1-mitofilin complex mediates TDP-43-induced
            mitochondrial phenotypes associated with frontotemporal dementia
  JOURNAL   FASEB J 34 (6), 8493-8509 (2020)
   PUBMED   32369233
  REMARK    GeneRIF: CHCHD10-regulated OPA1-mitofilin complex mediates
            TDP-43-induced mitochondrial phenotypes associated with
            frontotemporal dementia.
REFERENCE   6  (residues 1 to 754)
  AUTHORS   Bernert G, Fountoulakis M and Lubec G.
  TITLE     Manifold decreased protein levels of matrin 3, reduced motor
            protein HMP and hlark in fetal Down's syndrome brain
  JOURNAL   Proteomics 2 (12), 1752-1757 (2002)
   PUBMED   12469345
  REMARK    GeneRIF: Data show that the nuclear matrix protein matrin 3,
            cytoskeletal motor protein HMP, and the circadian clock protein
            lark were significantly decreased in fetal Down syndrome brain.
REFERENCE   7  (residues 1 to 754)
  AUTHORS   Liu J, Akoulitchev S, Weber A, Ge H, Chuikov S, Libutti D, Wang XW,
            Conaway JW, Harris CC, Conaway RC, Reinberg D and Levens D.
  TITLE     Defective interplay of activators and repressors with TFIH in
            xeroderma pigmentosum
  JOURNAL   Cell 104 (3), 353-363 (2001)
   PUBMED   11239393
REFERENCE   8  (residues 1 to 754)
  AUTHORS   Gieffers C, Korioth F, Heimann P, Ungermann C and Frey J.
  TITLE     Mitofilin is a transmembrane protein of the inner mitochondrial
            membrane expressed as two isoforms
  JOURNAL   Exp Cell Res 232 (2), 395-399 (1997)
   PUBMED   9168817
REFERENCE   9  (residues 1 to 754)
  AUTHORS   Icho T, Ikeda T, Matsumoto Y, Hanaoka F, Kaji K and Tsuchida N.
  TITLE     A novel human gene that is preferentially transcribed in heart
            muscle
  JOURNAL   Gene 144 (2), 301-306 (1994)
   PUBMED   8039717
REFERENCE   10 (residues 1 to 754)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009309.4.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..754
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     Protein         1..754
                     /product="MICOS complex subunit MIC60 isoform 6"
                     /note="motor protein; mitofilin; mitochondrial inner
                     membrane protein; cell proliferation-inducing protein 52;
                     MICOS complex subunit MIC60; proliferation-inducing gene
                     4; cell proliferation-inducing gene 4/52 protein;
                     mitochondrial inner membrane organizing system 2; heart
                     muscle protein; mitochondrial contact site and cristae
                     organizing system subunit 60"
                     /calculated_mol_wt=79628
     transit_peptide 1..33
                     /note="Mitochondrion. /evidence=ECO:0000255,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (Q16891.1)"
                     /calculated_mol_wt=3669
     Region          44..742
                     /region_name="Mitofilin"
                     /note="Mitochondrial inner membrane protein; pfam09731"
                     /db_xref="CDD:430783"
     Site            46..64
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16891.1)"
     Site            103
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q16891.1)"
     Site            112
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q16891.1)"
     Site            113
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q16891.1)"
     Site            207
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q16891.1)"
     Site            218
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q16891.1)"
     Site            219
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3KR86; propagated from
                     UniProtKB/Swiss-Prot (Q16891.1)"
     Site            384
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q16891.1)"
     Site            386
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q16891.1)"
     Site            447
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q16891.1)"
     CDS             1..754
                     /gene="IMMT"
                     /gene_synonym="HMP; Mic60; MICOS60; MINOS2; P87; P87/89;
                     P89; PIG4; PIG52"
                     /coded_by="NM_001400090.1:81..2345"
                     /note="isoform 6 is encoded by transcript variant 8"
                     /db_xref="GeneID:10989"
                     /db_xref="HGNC:HGNC:6047"
                     /db_xref="MIM:600378"
ORIGIN      
        1 mlracqlsgv taaaqsclcg kfvlrplrpc rrystsgssg lttgkiagag llfvgggigg
       61 tilyakwdsh fresvektip ysdklfemvl gpaaynvplp kksiqsgplk issvsevmke
      121 skqpasqlqk qkgdtpasat eaaqiisaag dtlsvpapav qpeeslktdh peigegkptp
      181 alseassssi rerppeevaa rlaqqekqeq vkieslaksl edalrqtasv tlqaiaaqna
      241 avqavnahsn ilkaamdnse iagekksaqw rtvegalker rkavdeaada llkakeelek
      301 mksvienakk kevagakphi taaegklhnm ivdldnvvkk vqaaqseakv vsqyhelvvq
      361 arddfkreld sitpevlpgw kgmsvsdlad klstddlnsl iahahrridq lnrelaeqka
      421 tekqhitlal ekqkleekra fdsavakale hhrseiqaeq drkieevrda menemrtqlr
      481 rqaaahtdhl rdvlrvqeqe lksefeqnls eklseqelqf rrlsqeqvdn ftldintaya
      541 rlrgieqavq shavaeeear kahqlwlsve alkysmktss aetptiplgs aveaikancs
      601 dneftqalta aippesltrg vyseetlrar fyavqklarr vamidetrns lyqyflsylq
      661 slllfppqql kpppelcped intfkllsya syciehgdle laakfvnqlk gesrrvaqdw
      721 lkearmtlet kqiveiltay asavgigttq vqpe
//
LOCUS       NP_001353005            1583 aa            linear   PRI 15-MAR-2023
DEFINITION  protein polybromo-1 isoform 15 [Homo sapiens].
ACCESSION   NP_001353005
VERSION     NP_001353005.1
DBSOURCE    REFSEQ: accession NM_001366076.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1583)
  AUTHORS   Yamashita N, Morimoto Y, Fushimi A, Ahmad R, Bhattacharya A, Daimon
            T, Haratake N, Inoue Y, Ishikawa S, Yamamoto M, Hata T, Akiyoshi S,
            Hu Q, Liu T, Withers H, Liu S, Shapiro GI, Yoshizumi T, Long MD and
            Kufe D.
  TITLE     MUC1-C Dictates PBRM1-Mediated Chronic Induction of Interferon
            Signaling, DNA Damage Resistance, and Immunosuppression in
            Triple-Negative Breast Cancer
  JOURNAL   Mol Cancer Res 21 (3), 274-289 (2023)
   PUBMED   36445328
  REMARK    GeneRIF: MUC1-C Dictates PBRM1-Mediated Chronic Induction of
            Interferon Signaling, DNA Damage Resistance, and Immunosuppression
            in Triple-Negative Breast Cancer.
REFERENCE   2  (residues 1 to 1583)
  AUTHORS   Walton J, Lawson K, Prinos P, Finelli A, Arrowsmith C and Ailles L.
  TITLE     PBRM1, SETD2 and BAP1 - the trinity of 3p in clear cell renal cell
            carcinoma
  JOURNAL   Nat Rev Urol 20 (2), 96-115 (2023)
   PUBMED   36253570
  REMARK    GeneRIF: PBRM1, SETD2 and BAP1 - the trinity of 3p in clear cell
            renal cell carcinoma.
            Review article
REFERENCE   3  (residues 1 to 1583)
  AUTHORS   Miao XY, Wu H, Ye BC, Yi QW, Lin FN, Wang YL, Ren CL, Jiang YF and
            Li A.
  TITLE     Non-small cell lung cancer carrying PBRM1 mutation suggests an
            immunologically cold phenotype leading to immunotherapy failure
            even with high TMB
  JOURNAL   Sci Rep 12 (1), 20734 (2022)
   PUBMED   36456601
  REMARK    GeneRIF: Nonsmall cell lung cancer carrying PBRM1 mutation suggests
            an immunologically cold phenotype leading to immunotherapy failure
            even with high TMB.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1583)
  AUTHORS   He X, Xu J, Niu N, Xu G, Zhu H, Liu Z, Mou Y, Qian Z, Wang H, Hu J,
            Ma T, Ma J and Tao H.
  TITLE     PBRM1 presents a potential prognostic marker and therapeutic target
            in duodenal papillary carcinoma
  JOURNAL   Clin Transl Med 12 (10), e1062 (2022)
   PUBMED   36178086
  REMARK    GeneRIF: PBRM1 presents a potential prognostic marker and
            therapeutic target in duodenal papillary carcinoma.
REFERENCE   5  (residues 1 to 1583)
  AUTHORS   Zhou Z, Huang D, Yang S, Liang J, Wang X and Rao Q.
  TITLE     Clinicopathological Significance, Related Molecular Changes and
            Tumor Immune Response Analysis of the Abnormal SWI/SNF Complex
            Subunit PBRM1 in Gastric Adenocarcinoma
  JOURNAL   Pathol Oncol Res 28, 1610479 (2022)
   PUBMED   35928964
  REMARK    GeneRIF: Clinicopathological Significance, Related Molecular
            Changes and Tumor Immune Response Analysis of the Abnormal SWI/SNF
            Complex Subunit PBRM1 in Gastric Adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1583)
  AUTHORS   Horikawa I and Barrett JC.
  TITLE     cDNA cloning of the human polybromo-1 gene on chromosome 3p21
  JOURNAL   DNA Seq 13 (4), 211-215 (2002)
   PUBMED   12487023
  REMARK    GeneRIF: cDNA cloning; the hPB1 gene is located on chromosome 3p21,
            where the tumor suppressor genes for breast, lung and kidney
            cancers have been mapped
REFERENCE   7  (residues 1 to 1583)
  AUTHORS   Phelan ML, Sif S, Narlikar GJ and Kingston RE.
  TITLE     Reconstitution of a core chromatin remodeling complex from SWI/SNF
            subunits
  JOURNAL   Mol Cell 3 (2), 247-253 (1999)
   PUBMED   10078207
REFERENCE   8  (residues 1 to 1583)
  AUTHORS   Reyes JC, Muchardt C and Yaniv M.
  TITLE     Components of the human SWI/SNF complex are enriched in active
            chromatin and are associated with the nuclear matrix
  JOURNAL   J Cell Biol 137 (2), 263-274 (1997)
   PUBMED   9128241
REFERENCE   9  (residues 1 to 1583)
  AUTHORS   Wang W, Cote J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C,
            Kalpana GV, Goff SP, Yaniv M, Workman JL and Crabtree GR.
  TITLE     Purification and biochemical heterogeneity of the mammalian SWI-SNF
            complex
  JOURNAL   EMBO J 15 (19), 5370-5382 (1996)
   PUBMED   8895581
REFERENCE   10 (residues 1 to 1583)
  AUTHORS   Wang W, Xue Y, Zhou S, Kuo A, Cairns BR and Crabtree GR.
  TITLE     Diversity and specialization of mammalian SWI/SNF complexes
  JOURNAL   Genes Dev 10 (17), 2117-2130 (1996)
   PUBMED   8804307
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104446.2 and AC112215.3.
            
            Summary: This locus encodes a subunit of ATP-dependent
            chromatin-remodeling complexes. The encoded protein has been
            identified as in integral component of complexes necessary for
            ligand-dependent transcriptional activation by nuclear hormone
            receptors. Mutations at this locus have been associated with
            primary clear cell renal cell carcinoma. [provided by RefSeq, Feb
            2012].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.186468.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1583
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.1"
     Protein         1..1583
                     /product="protein polybromo-1 isoform 15"
                     /note="polybromo-1D; BRG1-associated factor 180"
                     /calculated_mol_wt=182232
     Region          62..174
                     /region_name="Bromo_polybromo_I"
                     /note="Bromodomain, polybromo repeat I. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05524"
                     /db_xref="CDD:99954"
     Site            order(94,99,102,141,145,151)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99954"
     Region          200..302
                     /region_name="Bromo_polybromo_II"
                     /note="Bromodomain, polybromo repeat II. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05517"
                     /db_xref="CDD:99948"
     Site            order(230,235,238,277,281,287)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99948"
     Region          369..470
                     /region_name="Bromo_polybromo_III"
                     /note="Bromodomain, polybromo repeat III. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05520"
                     /db_xref="CDD:99951"
     Site            order(398,403,406,445,449,455)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99951"
     Region          520..623
                     /region_name="Bromo_polybromo_IV"
                     /note="Bromodomain, polybromo repeat IV. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05518"
                     /db_xref="CDD:99949"
     Site            order(551,556,559,598,602,608)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99949"
     Region          659..763
                     /region_name="Bromo_polybromo_V"
                     /note="Bromodomain, polybromo repeat V. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05515"
                     /db_xref="CDD:99946"
     Site            order(689,694,697,736,740,746)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99946"
     Region          776..883
                     /region_name="Bromo_polybromo_VI"
                     /note="Bromodomain, polybromo repeat VI. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05526"
                     /db_xref="CDD:99956"
     Site            order(809,810,813,852,856,862)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99956"
     Region          958..1075
                     /region_name="BAH_polybromo"
                     /note="BAH, or Bromo Adjacent Homology domain, as present
                     in polybromo and yeast RSC1/2. The human polybromo protein
                     (BAF180) is a component of the SWI/SNF
                     chromatin-remodeling complex PBAF. It is thought that
                     polybromo participates in transcriptional...; cd04717"
                     /db_xref="CDD:240068"
     Region          1156..1274
                     /region_name="BAH_polybromo"
                     /note="BAH, or Bromo Adjacent Homology domain, as present
                     in polybromo and yeast RSC1/2. The human polybromo protein
                     (BAF180) is a component of the SWI/SNF
                     chromatin-remodeling complex PBAF. It is thought that
                     polybromo participates in transcriptional...; cd04717"
                     /db_xref="CDD:240068"
     Region          1381..1431
                     /region_name="HMG-box_PB1"
                     /note="high mobility group (HMG)-box found in protein
                     polybromo-1 (PB1) and similar proteins; cd21984"
                     /db_xref="CDD:438800"
     Site            order(1381..1382,1384..1388,1391..1392,1399,1411..1412,
                     1415,1418..1419,1426,1430)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438800"
     CDS             1..1583
                     /gene="PBRM1"
                     /gene_synonym="BAF180; PB1; RCC; SMARCH1"
                     /coded_by="NM_001366076.2:244..4995"
                     /note="isoform 15 is encoded by transcript variant 17"
                     /db_xref="GeneID:55193"
                     /db_xref="HGNC:HGNC:30064"
                     /db_xref="MIM:606083"
ORIGIN      
        1 mrrlafrgag calkkldsmg skrrratsps ssvsgdfddg hhsvstpgps rkrrrlsnlp
       61 tvdpiavche lyntirdykd eqgrllcelf irapkrrnqp dyyevvsqpi dlmkiqqklk
      121 meeyddvnll tadfqllfnn aksyykpdsp eykaacklwd lylrtrnefv qkgeaddedd
      181 dedgqdnqgt vtegsspayl keileqllea ivvatnpsgr liselfqklp skvqypdyya
      241 iikepidlkt iaqriqngsy ksihamakdi dllaknakty nepgsqvfkd ansikkifym
      301 kkaeiehhem aksslrmsnk ravqggrlsa itmalqygse seedaalaaa ryeegeseae
      361 sitsfmdvsn pfyqlydtvr scrnnqgqli aepfyhlpsk kkypdyyqqi kmpislqqir
      421 tklknqeyet ldhlecdlnl mfenakrynv pnsaiykrvl klqqvmqakk kelarrddie
      481 dgdsmissat sdtgsakrkr nthdsemlgl rrlsskknir kqrmkilfnv vlearepgsg
      541 rrlcdlfmvk pskkdypdyy kiilepmdlk iiehnirndk yageegmied mklmfrnarh
      601 yneegsqvyn dahilekllk ekrkelgplp ddddmaspkl klsrksgisp kkskymtpmq
      661 qklnevyeav knytdkrgrr lsaiflrlps rselpdyylt ikkpmdmeki rshmmankyq
      721 didsmvedfv mmfnnactyn epesliykda lvlhkvllet rrdlegdeds hvpnvtlliq
      781 elihnlfvsv mshqddegrc ysdslaeipa vdpnfpnkpp ltfdiirknv ennryrrldl
      841 fqehmfevle rarrmnrtds eiyedavelq qffikirdel ckngeillsp alsyttkhlh
      901 ndvekerkek lpkeieedkl kreeekreae ksedssgaag lsglhrtysq dcsfknsmyh
      961 vgdyvyvepa eanlqphivc ierlwedsag ekwlygcwfy rpnetfhlat rkflekevfk
     1021 sdyynkvpvs kilgkcvvmf vkeyfklcpe nfrdedvfvc esrysaktks fkkiklwtmp
     1081 issvrfvprd vplpvvrvas vfanadkgdd ekntdnseds raednfnlek ekedvpvems
     1141 ngepgchyfe qlhyndmwlk vgdcvfiksh glvrprvgri ekvwvrdgaa yfygpifihp
     1201 eeteheptkm fykkevflsn leetcpmtci lgkcavlsfk dflscrptei pendillces
     1261 rynesdkqmk kfkglkrfsl sakvvddeiy yfrkpivpqk epspllekki qlleakfael
     1321 eggdddieem geedseviep pslpqlqtpl aseldlmpyt ppqstpksak gsakkegskr
     1381 kinmsgyilf ssemravika qhpdysfgel srlvgtewrn letakkaeye gvmnqgvapm
     1441 vgtpapggsp ygqqvgvlgp pgqqapppyp gphpagppvi qqpttpmfva pppktqrllh
     1501 seaylkyieg lsaesnsisk wdqtlaarrr dvhlskeqes rlpshwlksk gahttmadal
     1561 wrlrdlmlrd tlnirqaynl env
//
LOCUS       NP_001035374             698 aa            linear   PRI 15-MAR-2023
DEFINITION  terminal nucleotidyltransferase 4B isoform a [Homo sapiens].
ACCESSION   NP_001035374
VERSION     NP_001035374.2
DBSOURCE    REFSEQ: accession NM_001040284.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 698)
  AUTHORS   Li Y, Misumi I, Shiota T, Sun L, Lenarcic EM, Kim H, Shirasaki T,
            Hertel-Wulff A, Tibbs T, Mitchell JE, McKnight KL, Cameron CE,
            Moorman NJ, McGivern DR, Cullen JM, Whitmire JK and Lemon SM.
  TITLE     The ZCCHC14/TENT4 complex is required for hepatitis A virus RNA
            synthesis
  JOURNAL   Proc Natl Acad Sci U S A 119 (28), e2204511119 (2022)
   PUBMED   35867748
  REMARK    GeneRIF: The ZCCHC14/TENT4 complex is required for hepatitis A
            virus RNA synthesis.
REFERENCE   2  (residues 1 to 698)
  AUTHORS   Wang C, Zhao J, Nan X, Guo Z, Huang S, Wang X, Sun F and Ma S.
  TITLE     Long noncoding RNA CASC2 inhibits ox-LDL-mediated vascular smooth
            muscle cells proliferation and migration via the regulation of
            miR-532-3p/PAPD5
  JOURNAL   Mol Med 26 (1), 74 (2020)
   PUBMED   32698757
  REMARK    GeneRIF: Long noncoding RNA CASC2 inhibits ox-LDL-mediated vascular
            smooth muscle cells proliferation and migration via the regulation
            of miR-532-3p/PAPD5.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 698)
  AUTHORS   Shukla S, Jeong HC, Sturgeon CM, Parker R and Batista LFZ.
  TITLE     Chemical inhibition of PAPD5/7 rescues telomerase function and
            hematopoiesis in dyskeratosis congenita
  JOURNAL   Blood Adv 4 (12), 2717-2722 (2020)
   PUBMED   32559291
  REMARK    GeneRIF: Chemical inhibition of PAPD5/7 rescues telomerase function
            and hematopoiesis in dyskeratosis congenita.
REFERENCE   4  (residues 1 to 698)
  AUTHORS   Kim D, Lee YS, Jung SJ, Yeo J, Seo JJ, Lee YY, Lim J, Chang H, Song
            J, Yang J, Kim JS, Jung G, Ahn K and Kim VN.
  TITLE     Viral hijacking of the TENT4-ZCCHC14 complex protects viral RNAs
            via mixed tailing
  JOURNAL   Nat Struct Mol Biol 27 (6), 581-588 (2020)
   PUBMED   32451488
  REMARK    GeneRIF: Viral hijacking of the TENT4-ZCCHC14 complex protects
            viral RNAs via mixed tailing.
REFERENCE   5  (residues 1 to 698)
  AUTHORS   Roake CM, Chen L, Chakravarthy AL, Ferrell JE Jr, Raffa GD and
            Artandi SE.
  TITLE     Disruption of Telomerase RNA Maturation Kinetics Precipitates
            Disease
  JOURNAL   Mol Cell 74 (4), 688-700 (2019)
   PUBMED   30930056
  REMARK    GeneRIF: We find that mature hTR derives from extended precursors
            but that in PARN-mutant cells hTR maturation kinetically stalls and
            unprocessed precursors are degraded. Loss of poly(A)polymerase
            PAPD5 in PARN-mutant cells accelerates hTR maturation and restores
            hTR processing, indicating that oligoadenylation and deadenylation
            set rates of hTR maturation
REFERENCE   6  (residues 1 to 698)
  AUTHORS   Berndt H, Harnisch C, Rammelt C, Stohr N, Zirkel A, Dohm JC,
            Himmelbauer H, Tavanez JP, Huttelmaier S and Wahle E.
  TITLE     Maturation of mammalian H/ACA box snoRNAs: PAPD5-dependent
            adenylation and PARN-dependent trimming
  JOURNAL   RNA 18 (5), 958-972 (2012)
   PUBMED   22442037
  REMARK    Erratum:[RNA. 2014 Aug;20(8):1349]
REFERENCE   7  (residues 1 to 698)
  AUTHORS   Rammelt C, Bilen B, Zavolan M and Keller W.
  TITLE     PAPD5, a noncanonical poly(A) polymerase with an unusual
            RNA-binding motif
  JOURNAL   RNA 17 (9), 1737-1746 (2011)
   PUBMED   21788334
  REMARK    GeneRIF: PAPD5 catalyzes the polyadenylation of different types of
            RNA substrates in vitro.
REFERENCE   8  (residues 1 to 698)
  AUTHORS   Lubas M, Christensen MS, Kristiansen MS, Domanski M, Falkenby LG,
            Lykke-Andersen S, Andersen JS, Dziembowski A and Jensen TH.
  TITLE     Interaction profiling identifies the human nuclear exosome
            targeting complex
  JOURNAL   Mol Cell 43 (4), 624-637 (2011)
   PUBMED   21855801
REFERENCE   9  (residues 1 to 698)
  AUTHORS   Mullen TE and Marzluff WF.
  TITLE     Degradation of histone mRNA requires oligouridylation followed by
            decapping and simultaneous degradation of the mRNA both 5' to 3'
            and 3' to 5'
  JOURNAL   Genes Dev 22 (1), 50-65 (2008)
   PUBMED   18172165
REFERENCE   10 (residues 1 to 698)
  AUTHORS   Walowsky C, Fitzhugh DJ, Castano IB, Ju JY, Levin NA and Christman
            MF.
  TITLE     The topoisomerase-related function gene TRF4 affects cellular
            sensitivity to the antitumor agent camptothecin
  JOURNAL   J Biol Chem 274 (11), 7302-7308 (1999)
   PUBMED   10066793
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007610.10, AK300918.1 and AC007597.3.
            On Aug 29, 2009 this sequence version replaced NP_001035374.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK300918.1, SRR14038196.1584622.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..698
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.1"
     Protein         1..698
                     /product="terminal nucleotidyltransferase 4B isoform a"
                     /EC_number="2.7.7.19"
                     /note="topoisomerase-related function protein 4-2;
                     PAP-associated domain-containing protein 5; TUTase 3;
                     terminal uridylyltransferase 3; non-canonical poly(A) RNA
                     polymerase PAPD5; PAP associated domain containing 5;
                     poly(A) RNA polymerase D5, non-canonical; terminal
                     guanylyltransferase; terminal nucleotidyltransferase 4A"
                     /calculated_mol_wt=75670
     Region          199..>471
                     /region_name="TRF4"
                     /note="DNA polymerase sigma [Replication, recombination
                     and repair]; COG5260"
                     /db_xref="CDD:227585"
     CDS             1..698
                     /gene="TENT4B"
                     /gene_synonym="PAPD5; TRF4-2; TUT3"
                     /coded_by="NM_001040284.3:43..2139"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS54006.1"
                     /db_xref="GeneID:64282"
                     /db_xref="HGNC:HGNC:30758"
                     /db_xref="MIM:605540"
ORIGIN      
        1 mrprprsapg kprrrsrarl rssrtpsgga sggggsssss statggsgss tgspggaasa
       61 papapagmyr sgerllgsha lpaeqrdflp lettnnnnnh hqpgawarra gssassppsa
      121 sssphpsaav paadpadsas gssnkrkrdn kastyglnys llqpsggraa gggradgggv
      181 vysgtpwkrr nynqgvvglh eeisdfyeym sprpeeekmr mevvnriesv ikelwpsadv
      241 qifgsfktgl ylptsdidlv vfgkwenlpl wtleealrkh kvadedsvkv ldkatvpiik
      301 ltdsftevkv disfnvqngv raadlikdft kkypvlpylv lvlkqfllqr dlnevftggi
      361 gsyslflmav sflqlhpred acipntnygv llieffelyg rhfnylktgi rikdggsyva
      421 kdevqknmld gyrpsmlyie dplqpgndvg rssygamqvk qafdyayvvl shavspiaky
      481 ypnnetesil griirvtdev atyrdwiskq wglknrpeps cngngvtliv dtqqldkcnn
      541 nlseenealg kcrsktsesl skhssnsssg pvssssatqs sssdvdsdat pcktpkqllc
      601 rpstgnrvgs qdvslessqa vgkmqstqtt ntsnstnksq hgsarlfrss skgfqgttqt
      661 shgslmtnkq hqgksnnqyy hgkkrkhkrd aplsdlcr
//
LOCUS       NP_036520                172 aa            linear   PRI 18-MAR-2023
DEFINITION  biogenesis of lysosome-related organelles complex 1 subunit 6
            isoform 2 [Homo sapiens].
ACCESSION   NP_036520
VERSION     NP_036520.1
DBSOURCE    REFSEQ: accession NM_012388.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 172)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 172)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 172)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (residues 1 to 172)
  AUTHORS   Mao GF, Goldfinger LE, Fan DC, Lambert MP, Jalagadugula G,
            Freishtat R and Rao AK.
  TITLE     Dysregulation of PLDN (pallidin) is a mechanism for platelet dense
            granule deficiency in RUNX1 haplodeficiency
  JOURNAL   J Thromb Haemost 15 (4), 792-801 (2017)
   PUBMED   28075530
  REMARK    GeneRIF: PLDN is a direct target of RUNX1 and its dysregulation is
            a mechanism for platelet dense granule deficiency associated with
            RUNX1 haplodeficiency
REFERENCE   5  (residues 1 to 172)
  AUTHORS   Gokhale A, Hartwig C, Freeman AH, Das R, Zlatic SA, Vistein R,
            Burch A, Carrot G, Lewis AF, Nelms S, Dickman DK, Puthenveedu MA,
            Cox DN and Faundez V.
  TITLE     The Proteome of BLOC-1 Genetic Defects Identifies the Arp2/3 Actin
            Polymerization Complex to Function Downstream of the Schizophrenia
            Susceptibility Factor Dysbindin at the Synapse
  JOURNAL   J Neurosci 36 (49), 12393-12411 (2016)
   PUBMED   27927957
REFERENCE   6  (residues 1 to 172)
  AUTHORS   Huang L, Kuo YM and Gitschier J.
  TITLE     The pallid gene encodes a novel, syntaxin 13-interacting protein
            involved in platelet storage pool deficiency
  JOURNAL   Nat Genet 23 (3), 329-332 (1999)
   PUBMED   10610180
REFERENCE   7  (residues 1 to 172)
  AUTHORS   Risinger MA, Korsgren C and Cohen CM.
  TITLE     Role of N-myristylation in targeting of band 4.2 (pallidin) in
            nonerythroid cells
  JOURNAL   Exp Cell Res 229 (2), 421-431 (1996)
   PUBMED   8986625
REFERENCE   8  (residues 1 to 172)
  AUTHORS   Azim AC, Marfatia SM, Korsgren C, Dotimas E, Cohen CM and Chishti
            AH.
  TITLE     Human erythrocyte dematin and protein 4.2 (pallidin) are ATP
            binding proteins
  JOURNAL   Biochemistry 35 (9), 3001-3006 (1996)
   PUBMED   8608138
REFERENCE   9  (residues 1 to 172)
  AUTHORS   Huizing,M., Malicdan,M.C.V., Gochuico,B.R. and Gahl,W.A.
  TITLE     Hermansky-Pudlak Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301464
REFERENCE   10 (residues 1 to 172)
  AUTHORS   Korsgren C and Cohen CM.
  TITLE     Associations of human erythrocyte band 4.2. Binding to ankyrin and
            to the cytoplasmic domain of band 3
  JOURNAL   J Biol Chem 263 (21), 10212-10218 (1988)
   PUBMED   2968981
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF080470.1, AK128626.1 and
            BC026289.1.
            
            Summary: The protein encoded by this gene may play a role in
            intracellular vesicle trafficking. It interacts with Syntaxin 13
            which mediates intracellular membrane fusion. Mutations in this
            gene cause symptoms associated with Hermansky-Pudlak syndrome-9.
            Alternative splicing results in multiple transcript variants. A
            pseudogene related to this gene is located on the X chromosome.
            [provided by RefSeq, Aug 2015].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and 5'
            coding region and initiates translation at an alternate start
            codon, compared to variant 1. It encodes isoform 2, which has a
            shorter and distinct N-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.2015474.1,
                                           SRR11853562.11170.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000220531.9/ ENSP00000220531.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..172
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     Protein         1..172
                     /product="biogenesis of lysosome-related organelles
                     complex 1 subunit 6 isoform 2"
                     /note="syntaxin 13-interacting protein pallid; biogenesis
                     of lysosomal organelles complex-1, subunit 6, pallidin;
                     syntaxin 13 binding protein 1; pallid protein homolog;
                     biogenesis of lysosomal organelles complex-1, subunit 5,
                     pallidin; BLOC-1 subunit 6; biogenesis of lysosome-related
                     organelles complex 1 subunit 6; BLOC-1 subunit pallidin"
                     /calculated_mol_wt=19613
     Region          1..36
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UL45.1)"
     Region          51..140
                     /region_name="Snapin_Pallidin"
                     /note="Snapin/Pallidin; pfam14712"
                     /db_xref="CDD:434149"
     Region          135..172
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UL45.1)"
     CDS             1..172
                     /gene="BLOC1S6"
                     /gene_synonym="BLOS6; HPS9; PA; PALLID; PLDN"
                     /coded_by="NM_012388.4:66..584"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS10126.1"
                     /db_xref="GeneID:26258"
                     /db_xref="HGNC:HGNC:8549"
                     /db_xref="MIM:604310"
ORIGIN      
        1 msvpgpsspd galtrppycl eageptpgls dtspdeglie dltiedkave qlaegllshy
       61 lpdlqrskqa lqeltqnqvv lldtleqeis kfkechsmld inalfaeakh yhaklvnirk
      121 emlmlhekts klkkralklq qkrqkeeler eqqrekefer ekqltarpak rm
//
LOCUS       XP_011538324             416 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_011538324
VERSION     XP_011538324.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011540022.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..416
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..416
                     /product="pleckstrin homology domain-containing family A
                     member 1 isoform X1"
                     /calculated_mol_wt=47544
     Region          1..117
                     /region_name="PH1_TAPP1_2"
                     /note="Tandem PH-domain-containing proteins 1 and 2
                     Pleckstrin homology (PH) domain, N-terminal repeat;
                     cd13270"
                     /db_xref="CDD:270089"
     Region          185..298
                     /region_name="PH2_TAPP1_2"
                     /note="Tandem PH-domain-containing proteins 1 and 2
                     Pleckstrin homology (PH) domain, C-terminal repeat;
                     cd13271"
                     /db_xref="CDD:270090"
     Site            order(200,202..203,211,222,232..233,265)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:270090"
     CDS             1..416
                     /gene="PLEKHA1"
                     /gene_synonym="TAPP1"
                     /coded_by="XM_011540022.2:299..1549"
                     /db_xref="GeneID:59338"
                     /db_xref="HGNC:HGNC:14335"
                     /db_xref="MIM:607772"
ORIGIN      
        1 mpyvdrqnri cgfldieene nsgkflrryf ildtredsfv wymdnpqnlp sgssrvgaik
       61 ltyiskvsda tklrpkaefc fvmnagmrky flqandqqdl vewvnvlnka ikitvpkqsd
      121 sqpnsdnlsr hgecgkkqvs yrtdivggvp iitptqkeev necgesidrn nlkrsqshlp
      181 yftpkppqds avikagycvk qgavmknwkr ryfqldenti gyfkseleke plrviplkev
      241 hkvqeckqsd immrdnlfei vttsrtfyvq adspeemhsw ikavsgaiva qrgpgrsass
      301 qssmrlsakt vsvgkrkswr ricgrpegcr tlvyrgihqe lvnaaraspr sfriqtrfps
      361 yqrshrhltf hslsqqlfgl nlyhgearil rvscqgqare lqgpdclskr tsfqsd
//
LOCUS       XP_047283173             854 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 6 regulatory subunit 3 isoform
            X7 [Homo sapiens].
ACCESSION   XP_047283173
VERSION     XP_047283173.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427217.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..854
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..854
                     /product="serine/threonine-protein phosphatase 6
                     regulatory subunit 3 isoform X7"
                     /calculated_mol_wt=95301
     Region          128..513
                     /region_name="SAPS"
                     /note="SIT4 phosphatase-associated protein; pfam04499"
                     /db_xref="CDD:398279"
     CDS             1..854
                     /gene="PPP6R3"
                     /gene_synonym="C11orf23; PP6R3; SAP190; SAPL; SAPLa;
                     SAPS3"
                     /coded_by="XM_047427217.1:234..2798"
                     /db_xref="GeneID:55291"
                     /db_xref="HGNC:HGNC:1173"
                     /db_xref="MIM:610879"
ORIGIN      
        1 mfwkfdlhss shidtllere dvtlkelmde edvlqeckaq nrkliefllk aecledlvsf
       61 iieeppqdmd ekirykypni scelltsdvs qmndrlgede sllmklysfl lndsplnpll
      121 asffskvlsi lisrkpeqiv dflkkkhdfv dliikhigts aimdlllrll tcieppqprq
      181 dvlnwlneek iiqrlveivh psqeedrhsn asqslceivr lsrdqmlqiq nstepdplla
      241 tlekqeiieq llsnifhkek nesaivsaiq illtlletrr ptfeghieic ppgmshsacs
      301 vnksvleair grlgsfhell leppkksvmk ttwgvldppv gntrlnvirl issllqtnts
      361 singdlmeln sigvilnmff kytwnnflht qveicialil aspfentena titdqdstgd
      421 nlllkhlfqk cqlierilea wemnekkqae ggrrhgymgh ltriancivh stdkgpnsal
      481 vqqlikdlpd evrerwetfc tsslgetnkr ntvdlafsdy qmqqmtsnfi dqfgfndekf
      541 adqddignvs fdrvsdinft lntnesgnia lfeacckeri qqfddggsde ediweekhia
      601 ftpesqrrss sgstdseest dseeedgakq dlfepssant edkmevdlse ppnwsanfdv
      661 pmetthgapl dsvgsdvwst eepmptketg wasfseftss lstkdslrsn spvemetste
      721 pmdpltpsaa alavqpeaag svameassdg eedaestdkv tetvmnggmk etlsltvdak
      781 tetavfksee gklstsqdaa ckdaeecpet aeakcaaprp pssspeqsas dacllllrtg
      841 qpsapgdtsv ngpv
//
LOCUS       XP_047284552             924 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 30 isoform X2 [Homo sapiens].
ACCESSION   XP_047284552
VERSION     XP_047284552.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428596.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..924
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..924
                     /product="TBC1 domain family member 30 isoform X2"
                     /calculated_mol_wt=102613
     Region          252..468
                     /region_name="RabGAP-TBC"
                     /note="Rab-GTPase-TBC domain; pfam00566"
                     /db_xref="CDD:425753"
     Region          637..764
                     /region_name="DUF4682"
                     /note="Domain of unknown function (DUF4682); pfam15733"
                     /db_xref="CDD:434891"
     CDS             1..924
                     /gene="TBC1D30"
                     /coded_by="XM_047428596.1:1905..4679"
                     /db_xref="GeneID:23329"
                     /db_xref="HGNC:HGNC:29164"
                     /db_xref="MIM:615077"
ORIGIN      
        1 mdvlptgggr pglrtelefr ggggearles qeeetipaap paprlrgaae rprrsrdtwd
       61 gdedtepgea cggrtsrtas lvsgllnely scteeeeaag ggrgaegrrr rrdsldsste
      121 asgsdvvlgg rsgagdsrvl qelqerpsqr hqmlylrqkd anelktilre lkyrigiqsa
      181 kllrhlkqkd rllhkvqrnc divtaclqav sqkrrvdtkl kftlepslgq ngfqqwydal
      241 kavarlstgi pkewrrkvwl tladhylhsi aidwdktmrf tfnersnpdd dsmgiqivkd
      301 lhrtgcssyc gqeaeqdrvv lkrvllayar wnktvgycqg fnilaalile vmegnegdal
      361 kimiylidkv lpesyfvnnl ralsvdmavf rdllrmklpe lsqhldtlqr tankesgggy
      421 eppltnvftm qwfltlfatc lpnqtvlkiw dsvffegsei ilrvslaiwa klgeqiecce
      481 tadefystmg rltqemlend llqshelmqt vysmapfpfp qlaelrekyt ynitpfpatv
      541 kptsvsgrhs kardsdeend pddedavvna vgclgpfsgf lapelqkyqk qikepneeqs
      601 lrsnniaels pgainscrse yhaafnsmmm ermttdinal krqysrikkk qqqqvhqvyi
      661 radkgpvtsi lpsqvnsspv inhlllgkkm kmtnraakna vihipghtgg kispvpyedl
      721 ktklnspwrt hirvhkknmp rtkshpgcgd tvglideqne asktnglgaa eafpsgctat
      781 agregsspeg strrtiegqs pepvfgdadv dvsavqaklg alelnqrdaa aetelrvhpp
      841 cqrhcpepps apeenkatsk apqgsnsktp ifspfpsvkp lrksatarnl glygptertp
      901 tvhfpqmsrs fskpgggnsg tkkr
//
LOCUS       XP_016875641             243 aa            linear   PRI 20-MAR-2023
DEFINITION  suppressor of cytokine signaling 2 isoform X1 [Homo sapiens].
ACCESSION   XP_016875641
VERSION     XP_016875641.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017020152.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..243
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..243
                     /product="suppressor of cytokine signaling 2 isoform X1"
                     /calculated_mol_wt=27033
     Region          40..142
                     /region_name="SH2_SOCS2"
                     /note="Src homology 2 (SH2) domain found in suppressor of
                     cytokine signaling (SOCS) proteins; cd10383"
                     /db_xref="CDD:198246"
     Site            order(55,73,75,83,96)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198246"
     Site            order(106,108,129)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198246"
     Region          158..198
                     /region_name="SOCS_SOCS2"
                     /note="SOCS (suppressors of cytokine signaling) box of
                     SOCS2-like proteins. Together with CIS1, the CIS/SOCS
                     family of proteins is characterized by the presence of a
                     C-terminal SOCS box and a central SH2 domain. SOCS2 has
                     recently been shown to regulate...; cd03736"
                     /db_xref="CDD:239705"
     Site            order(159..164,170,175,181,186)
                     /site_type="active"
                     /note="elongin B/C interaction [active]"
                     /db_xref="CDD:239705"
     CDS             1..243
                     /gene="SOCS2"
                     /gene_synonym="CIS2; Cish2; SOCS-2; SSI-2; SSI2; STATI2"
                     /coded_by="XM_017020152.2:491..1222"
                     /db_xref="GeneID:8835"
                     /db_xref="HGNC:HGNC:19382"
                     /db_xref="MIM:605117"
ORIGIN      
        1 mtlrclepsg nggegtrsqw gtagsaeeps pqaarlakal relgqtgwyw gsmtvneake
       61 klkeapegtf lirdsshsdy lltisvktsa gptnlrieyq dgkfrldsii cvksklkqfd
      121 svvhlidyyv qmckdkrtgp eaprngtvhl yltkplytsa pslqhlcrlt inkctgaiwg
      181 lplptrlkdy leeykfqvqa pvgekellig ilkkwegtkl tqaslqfdmp adqsllgily
      241 faf
//
LOCUS       XP_011533280             339 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM124A isoform X1 [Homo sapiens].
ACCESSION   XP_011533280
VERSION     XP_011533280.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534978.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..339
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..339
                     /product="protein FAM124A isoform X1"
                     /calculated_mol_wt=38188
     Region          83..314
                     /region_name="FAM124"
                     /note="FAM124 family; pfam15067"
                     /db_xref="CDD:434433"
     CDS             1..339
                     /gene="FAM124A"
                     /coded_by="XM_011534978.3:105..1124"
                     /db_xref="GeneID:220108"
                     /db_xref="HGNC:HGNC:26413"
ORIGIN      
        1 mdpkagggge eddcvdsgae tggsdyshls stsngfstwr mpcclflyct hgdkekgrws
       61 lqvehtwpsg elsveeaqdp flvsihiiad pgesqplqea idnvlawihp dlplfrvser
      121 rasrrrrkpp kgaqpalavv lflqeeygee qilqlhrtlq qppwrhhhte qvhgrflpyl
      181 pcsqdfftla pgtplwairp vhygkeivrf tvycrydnya dslrfyqlil rrspsqkkad
      241 fcifpifsnl dvdiqfslkr lpcdqcpvpt dssvlefrvr digelvpllp npcspisegr
      301 wqtedhdgnk illqdgplsc lhllatvnnt amnvgtkga
//
LOCUS       XP_047291130             819 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase tousled-like 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047291130
VERSION     XP_047291130.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435174.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..819
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..819
                     /product="serine/threonine-protein kinase tousled-like 2
                     isoform X1"
                     /calculated_mol_wt=92744
     Region          253..>507
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          502..810
                     /region_name="STKc_TLK2"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Tousled-Like Kinase 2; cd14041"
                     /db_xref="CDD:270943"
     Site            order(515..519,523,536,538,574,591..594,598,600,639,641,
                     643..644,646,660,663,686..689)
                     /site_type="active"
                     /db_xref="CDD:270943"
     Site            order(515..519,523,536,538,574,591..594,598,639,641,
                     643..644,646,660)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270943"
     Site            order(519,598,600,639,641,643,663,686..689)
                     /site_type="other"
                     /note="polypeptide substrate binding site"
                     /db_xref="CDD:270943"
     Site            order(659..665,686..689)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270943"
     CDS             1..819
                     /gene="TLK2"
                     /gene_synonym="HsHPK; MRD57; PKU-ALPHA"
                     /coded_by="XM_047435174.1:35..2494"
                     /db_xref="GeneID:11011"
                     /db_xref="HGNC:HGNC:11842"
                     /db_xref="MIM:608439"
ORIGIN      
        1 mgeaqaapaw dwgrrpeerr gppgswrprq ppgrprepal pssvtaemme elhsldprrq
       61 ellearftgv gvskgplnse ssnqslcsvg slsdkevetp ekkqndqrnr krkaepyets
      121 qgkgtprghk isdyfefagg sapgtspgrs vppvarsspq hslsnplprr veqplygldg
      181 saakeateeq salptlmsvm lakprldteq laqrgaglcf tfvsaqqnsp sstgsgnteh
      241 scssqkqisi qhrqtqsdlt iekisalens knsdlekkeg riddllranc dlrrqideqq
      301 kmlekykerl nrcvtmskkl liekskqekm acrdksmqdr lrlghfttvr hgasfteqwt
      361 dgyafqnlik qqerinsqre eierqrkmla krkppamgqa ppatneqkqr ksktngaene
      421 tpssgntelk dtapalgahs llrltlaeyh eqeeifklrl ghlkkeeaei qaelerlerv
      481 rnlhirelkr ihnednsqfk dhptlndryl llhllgrggf sevykafdlt eqryvavkih
      541 qlnknwrdek kenyhkhacr eyrihkeldh privklydyf sldtdsfctv leycegndld
      601 fylkqhklms ekearsiimq ivnalkylne ikppiihydl kpgnillvng tacgeikitd
      661 fglskimddd synsvdgmel tsqgagtywy lppecfvvgk eppkisnkvd vwsvgvifyq
      721 clygrkpfgh nqsqqdilqe ntilkatevq fppkpvvtpe akafirrcla yrkedridvq
      781 qlacdpyllp hirksvstss pagaaiasts gasnnsssn
//
LOCUS       XP_047291294             166 aa            linear   PRI 20-MAR-2023
DEFINITION  glutathione hydrolase 6 isoform X6 [Homo sapiens].
ACCESSION   XP_047291294
VERSION     XP_047291294.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435338.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..166
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..166
                     /product="glutathione hydrolase 6 isoform X6"
                     /calculated_mol_wt=17852
     CDS             1..166
                     /gene="GGT6"
                     /coded_by="XM_047435338.1:57..557"
                     /db_xref="GeneID:124975"
                     /db_xref="HGNC:HGNC:26891"
                     /db_xref="MIM:612341"
ORIGIN      
        1 meraeepvvy qkllpwepsl eseeeveeee tsealvlnpr rhqdssrnka gglpgtwarv
       61 vaallllavg cslavrqlqn qgrstgslgs vapppgghsh gpgvyhhgai ispadccepr
      121 eqcpgrrgqq rlcapshlla qlllwlctpv pkhwgsaqqp ggqvyh
//
LOCUS       XP_047291653            1119 aa            linear   PRI 20-MAR-2023
DEFINITION  telomerase-binding protein EST1A isoform X2 [Homo sapiens].
ACCESSION   XP_047291653
VERSION     XP_047291653.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435697.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1119
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1119
                     /product="telomerase-binding protein EST1A isoform X2"
                     /calculated_mol_wt=126449
     Region          147..>338
                     /region_name="PRK12678"
                     /note="transcription termination factor Rho; Provisional"
                     /db_xref="CDD:237171"
     Region          638..743
                     /region_name="EST1"
                     /note="Telomerase activating protein Est1; pfam10374"
                     /db_xref="CDD:431240"
     Region          751..1103
                     /region_name="EST1_DNA_bind"
                     /note="Est1 DNA/RNA binding domain; pfam10373"
                     /db_xref="CDD:431239"
     Region          765..795
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          800..823
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..1119
                     /gene="SMG6"
                     /gene_synonym="C17orf31; EST1A; hEST1A; hSMG5/7a; SMG-6"
                     /coded_by="XM_047435697.1:66..3425"
                     /db_xref="GeneID:23293"
                     /db_xref="HGNC:HGNC:17809"
                     /db_xref="MIM:610963"
ORIGIN      
        1 maeglervri saselrgila tlapqagsre nmkelkearp rkdnrrpdle iykpglsrlr
       61 nkpkikeppg seefkdeivn drdcsaveng tqpvkdvcke lnnqeqngpi dpennrgqes
      121 fprtagqedr slkiikrtkk pdlqiyqpgr rlqtvskesa srveeeevln qveqlrveed
      181 ecrgnvakee vankpdraei ekspgggrvg aakgekgkrm gkgegvreth ddpargrpgs
      241 akrysrsdkr rnryrtrsts sagsnnsaeg agltdngcrr rrqdrtkerp rlkkqvsvss
      301 tdsldedrid epdglgprrs serkrhlern wsgrgegeqk nsakeyrgtl rvtfdaeamn
      361 kespmvrsar ddmdrgkpdk glssggkgse kqesknpkqe lrgrgrgili lpahttlsvn
      421 sagspesapl gprllfgsgs kgsrswgrgg ttrrlwdpnn pdqkpalktq tpqlhfldtd
      481 devsptswgd srqaqasyyk fqnsdnpyyy prtpgpasqy pytgynplqy pvgptngvyp
      541 gpyypgyptp sgqyvcsplp tstmspeeve qhmrnlqqqe lhrllrvadn qelqlsnlls
      601 rdrispegle kmaqlraell qlyercilld iefsdnqnvd qilwknafyq viekfrqlvk
      661 dpnvenpeqi rnrllellde gsdffdsllq klqvtykfkl edymdglair skplrktvky
      721 alisaqrcmi cqgdiaryre qasdtanygk arswylkaqh iapkngrpyn qlallavytr
      781 rkldavyyym rslaasnpil takeslmslf eetkrkaeqm ekkqheefdl spdqwrkgkk
      841 stfrhvgddt trleiwihps hprssqgtes gkdseqengl gslspsdlnk rfilsflhah
      901 gklftrigme tfpavaekvl kefqvllqhs pspigstrml qlmtinmfav hnsqlkdcfs
      961 eecrsviqeq aaalglamfs llvrrctcll kesakaqlss pedqddqddi kvssfvpdlk
     1021 ellpsvkvws dwmlgypdtw nppptsldlp shvavdvwst ladfcnilta vnqsevplyk
     1081 dpdddltlli leedrllsgf vpllaapqdp cyvektsdk
//
LOCUS       XP_016880417             215 aa            linear   PRI 20-MAR-2023
DEFINITION  mitochondrial thiamine pyrophosphate carrier isoform X2 [Homo
            sapiens].
ACCESSION   XP_016880417
VERSION     XP_016880417.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017024928.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..215
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..215
                     /product="mitochondrial thiamine pyrophosphate carrier
                     isoform X2"
                     /calculated_mol_wt=23770
     Region          16..111
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          118..201
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     CDS             1..215
                     /gene="SLC25A19"
                     /gene_synonym="DNC; MCPHA; MTPPT; MUP1; THMD3; THMD4; TPC"
                     /coded_by="XM_017024928.3:209..856"
                     /db_xref="GeneID:60386"
                     /db_xref="HGNC:HGNC:14409"
                     /db_xref="MIM:606521"
ORIGIN      
        1 mvgydpkpdg rnntkfqvav agsvsglvtr alispfdvik irfqlqherl srsdpsakyh
       61 gilqasrqil qeegptafwk ghvpaqilsi gygavqflsf emltelvhrg svydarefsv
      121 hfvcgglaac matltvhpvd vlrtrfaaqg epkvrrykgl mdcakqvlqk egalgffkgl
      181 spsllkaals tgfmffsyef fcnvfhcmnr tasqr
//
LOCUS       XP_047294545             431 aa            linear   PRI 20-MAR-2023
DEFINITION  DAZ-associated protein 1 isoform X5 [Homo sapiens].
ACCESSION   XP_047294545
VERSION     XP_047294545.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438589.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..431
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..431
                     /product="DAZ-associated protein 1 isoform X5"
                     /calculated_mol_wt=45760
     Region          36..117
                     /region_name="RRM1_DAZAP1"
                     /note="RNA recognition motif 1 (RRM1) found in Deleted in
                     azoospermia-associated protein 1 (DAZAP1) and similar
                     proteins; cd12574"
                     /db_xref="CDD:409988"
     Region          136..215
                     /region_name="RRM2_DAZAP1"
                     /note="RNA recognition motif 2 (RRM2) found in Deleted in
                     azoospermia-associated protein 1 (DAZAP1) and similar
                     proteins; cd12327"
                     /db_xref="CDD:409765"
     CDS             1..431
                     /gene="DAZAP1"
                     /coded_by="XM_047438589.1:1529..2824"
                     /db_xref="GeneID:26528"
                     /db_xref="HGNC:HGNC:2683"
                     /db_xref="MIM:607430"
ORIGIN      
        1 mgagstpqet wslgapcsgt lvavqllpwe stpgrklfvg gldwsttqet lrsyfsqyge
       61 vvdcvimkdk ttnqsrgfgf vkfkdpncvg tvlasrphtl dgrnidpkpc tprgmqpert
      121 rpkegwqkgp rsdnsksnki fvggiphncg etelreyfkk fgvvtevvmi ydaekqrprg
      181 fgfitfedeq svdqavnmhf hdimgkkvev kraeprdsks qapgqpgasq wgsrvvpnaa
      241 ngwagqpppt wqqgygpqgm wvpagqaigg ygpppagrga ppppppftsy ivstppggfp
      301 ppqgfpqgyg appqfsfgyg ppppppdqfa ppgvppppat pgaaplafpp ppsqaapdms
      361 kpptaqpdfp ygqygygqdl sgfgqgfsdp sqqppsyggp svpgsggppa ggsgfgrgqn
      421 hnvqgfhpyr r
//
LOCUS       XP_011525107             657 aa            linear   PRI 20-MAR-2023
DEFINITION  NTPase KAP family P-loop domain-containing protein 1 isoform X3
            [Homo sapiens].
ACCESSION   XP_011525107
VERSION     XP_011525107.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011526805.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..657
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..657
                     /product="NTPase KAP family P-loop domain-containing
                     protein 1 isoform X3"
                     /calculated_mol_wt=72863
     Region          84..389
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     CDS             1..657
                     /gene="NKPD1"
                     /coded_by="XM_011526805.3:393..2366"
                     /db_xref="GeneID:284353"
                     /db_xref="HGNC:HGNC:24739"
ORIGIN      
        1 mdilteddvy csclaktlch vpvpvtvgfy apfgcrlhmm ldkitalmqq eaaqreseel
       61 qhvqwrprav sgwgvpqllw ylvflqpiit evhlrrrnvq flfirfsawq yagtdklwag
      121 lvttlcegir rhygalpfsv ysvlgnkpat rqdccqsewh crrrvclgll allaalglgv
      181 gllylslggh alghgspsgs llkvfggaat tlsgsgllma vysvgkhlfv sqrkkierlv
      241 srekfgsqlg fmcevkkeve lltdflcfle iyqrrrlrvv levtgldtcy pervvgvlna
      301 intllsdsha pfifilvvdp silaaclesa gnmkgtadng ylflnrtvtl pfsvpimgrr
      361 tklqflhdav qsrddllyre mtrkpwlpgd aggesaqlla vqaqagterg qgriddeaar
      421 riqealfclh derdclyeyv pdnvvsmrri vntvpitvrl lqqqqqqgdf ggptprqava
      481 wvvlanqwpc rlswalqcle drqqtggape grarlwdvfr dnsrelhtmt kalqnvldld
      541 gdpelferfl gadfpftvae aqsllrctvn ldhsirrrmg liravsalkp psppksptrd
      601 tphaahrans asrappsgra sgqageghht gdlahrgklw pvacalfrpg qsspggp
//
LOCUS       XP_047300017            2099 aa            linear   PRI 20-MAR-2023
DEFINITION  bromodomain adjacent to zinc finger domain protein 2B isoform X27
            [Homo sapiens].
ACCESSION   XP_047300017
VERSION     XP_047300017.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444061.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2099
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..2099
                     /product="bromodomain adjacent to zinc finger domain
                     protein 2B isoform X27"
                     /calculated_mol_wt=232685
     Region          646..715
                     /region_name="HAT_MBD"
                     /note="Methyl-CpG binding domains (MBD) present in
                     putative chromatin remodelling factor such as BAZ2A; BAZ2A
                     contains a MBD, DDT, PHD-type zinc finger and Bromo domain
                     suggesting that BAZ2A might be associated with histone
                     acetyltransferase (HAT) activity. The...; cd01397"
                     /db_xref="CDD:238691"
     Site            order(658,660,662,669,671,680,683,687)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238691"
     Region          <683..>923
                     /region_name="DUF5401"
                     /note="Family of unknown function (DUF5401); pfam17380"
                     /db_xref="CDD:375164"
     Region          957..1019
                     /region_name="DDT"
                     /note="domain in different transcription and chromosome
                     remodeling factors; smart00571"
                     /db_xref="CDD:214726"
     Region          1240..>1272
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          <1580..1619
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          1835..1883
                     /region_name="PHD_BAZ2B"
                     /note="PHD finger found in bromodomain adjacent to zinc
                     finger domain protein 2B (BAZ2B); cd15630"
                     /db_xref="CDD:277100"
     Site            order(1843,1849..1853,1871..1874)
                     /site_type="other"
                     /note="H3 histone binding site [polypeptide binding]"
                     /db_xref="CDD:277100"
     Region          1968..2064
                     /region_name="Bromo_BAZ2A_B_like"
                     /note="Bromodomain, BAZ2A/BAZ2B_like subfamily. Bromo
                     adjacent to zinc finger 2A (BAZ2A) and 2B (BAZ2B) were
                     identified as a novel human bromodomain gene by cDNA
                     library screening. BAZ2A is also known as Tip5
                     (Transcription termination factor I-interacting...;
                     cd05503"
                     /db_xref="CDD:99935"
     Site            order(1992,1997,2000,2039,2043,2049)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99935"
     CDS             1..2099
                     /gene="BAZ2B"
                     /gene_synonym="WALp4"
                     /coded_by="XM_047444061.1:3..6302"
                     /db_xref="GeneID:29994"
                     /db_xref="HGNC:HGNC:963"
                     /db_xref="MIM:605683"
ORIGIN      
        1 mesgerlpss aassttptss stpsvasvvs kgglstgvas lsstinpcgh lfrtagdqpf
       61 nlstvssafp mvshpvfglh sassghsefg glgtlgtpta laahpqlasf pgaewwrttd
      121 ahtrtgatff ppllgipplf appaqnhdss sfhsrtsgks nrngpekgvn gsingsntss
      181 vigintsvls ttasssmgqt kstssgggnr kcnqeqsknq pldarvdkik dkkprkkame
      241 sssnsdsdsg tssdtssegi sssdsddlee deeeedqsie esedddsdse seaqhksnnq
      301 vllhgisdpk adgqkateka qekrihqplp lasesqthsf qsqqkqpqvl sqqlpfifqs
      361 sqakeesvnk htsviqstgl vsnvkplslv nqakketymk livpspdvlk agnkntsees
      421 slltselrsk reqykqafps qlkkqessks lkkviaalsn pkatssspah pkqtlennhp
      481 npfltnallg nhqpngviqs viqeaplalt tktkmqskin eniaaasstp fsspvnlsts
      541 grrtpgnqtp vmpsaspilh sqgkekavsn nvnpvktqhh shpakslveq frgtdsdips
      601 skdsedsned eeeddeeede eddeddesdd sqsgtskrrr vtderelrip leygwqretr
      661 irnfggrlqg evayyapcgk klrqypevik gmqwcllkee dviprirame grrgrppnpd
      721 rqrareesrm rrrkgrppnv gnaefldnad akllrklqaq eiarqaaqik llrklqkqeq
      781 arvakeakkq qaimaaeekr kqkeqikimk qqekikriqq irmekelraq qileakkkkk
      841 eeaanaklle aekrikekem rrqqavllkh qererrrqhm mlmkameark kaeekerlkq
      901 ekrdekrlnk erkleqrrle lemakelkkp nedmcladqk plpelpripg lvlsgstfsd
      961 clmvvqflrn fgkvlgfdvn idvpnlsvlq egllnigdsm gevqdllvrl lsaavcdpgl
     1021 itgykaktal gehllnvgvn rdnvseilqi fmeahcgqte lteslktkaf qahtpaqkas
     1081 vlaflinela csksvvseid knidymsnlr rdkwvvegkl rklriihakk tgkrdtsggi
     1141 dlgeeqhplg tptpgrkrrr kggdsdyddd ddddsddqgd eddedeedke dkkgkktdic
     1201 ededegdqaa sveelekqie klskqqsqyr rklfdashsl rsvmfgqdry rrrywilpqc
     1261 ggifvegmes gegleeiake reklkkaesv qikeemfets gdslncsntd hceqkedlke
     1321 kdntnlflqk pgsfsklskl levakmppes evmtpkpnag angctlsyqn sgkhslgsvq
     1381 statqsnvek adsnnlfntg ssgpgkfysp lpndqllktl teknrqwfsl lprtpcddts
     1441 lthadmstas lvtpqsqpps kspsptpapl gssaqnpvgl npfalsplqv kggvsmmglq
     1501 fcgwptgvvt snipftssvp slgsglglse gngnsfltsn vassksespv pqnekatsaq
     1561 paavevakpv dfpspkpipe emqfgwwrii dpedlkallk vlhlrgirek alqkqiqkhl
     1621 dyitqaclkn kdvaiielne neenqvtrdi venwsveeqa memdlsvlqq vedlerrvas
     1681 aslqvkgwmc pepaseredl vyfehksftk lckehdgeft gedessahal erksdnpldi
     1741 avtrladler nierrylksp lsttiqikld nvgtvtvpap apsvsgdgdg ieediapglr
     1801 vwrralsear saaqvalciq qlqksiawek simkvycqic rkgdneelll lcdgcdkgch
     1861 tychrpkitt ipdgdwfcpa ciakasgqtl kikklhvkgk ktneskkgkk vtltgdtede
     1921 dsastssslk rgnkdlkkrk meentsinls kqesftsvkk pkrddskdla lcsmilteme
     1981 thedawpfll pvnlklvpgy kkvikkpmdf stireklssg qypnletfal dvrlvfdnce
     2041 tfneddsdig raghnmrkyf ekkwtdtfkp lcyedalaaq pygaansyhq ltspvpeas
//
LOCUS       XP_047301730             613 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein kinase ZAP-70 isoform X1 [Homo sapiens].
ACCESSION   XP_047301730
VERSION     XP_047301730.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445774.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..613
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..613
                     /product="tyrosine-protein kinase ZAP-70 isoform X1"
                     /calculated_mol_wt=69116
     Region          8..111
                     /region_name="SH2_N-SH2_Zap70_Syk_like"
                     /note="N-terminal Src homology 2 (SH2) domain found in
                     Zeta-chain-associated protein kinase 70 (ZAP-70) and
                     Spleen tyrosine kinase (Syk) proteins; cd09938"
                     /db_xref="CDD:198191"
     Site            order(17,37,58,60)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198191"
     Site            order(59,71..72,74,93..94)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198191"
     Region          152..255
                     /region_name="SH2_C-SH2_Zap70"
                     /note="C-terminal Src homology 2 (SH2) domain found in
                     Zeta-chain-associated protein kinase 70 (ZAP-70); cd10402"
                     /db_xref="CDD:198265"
     Site            order(170,190,192,199)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198265"
     Site            order(211,239)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198265"
     Region          327..595
                     /region_name="PTKc_Zap-70"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Zeta-chain-associated protein of 70kDa; cd05115"
                     /db_xref="CDD:270686"
     Site            order(338..343,346,361,363,408..412,414..415,455,459..460,
                     462,472..473,492..496,505,539)
                     /site_type="active"
                     /db_xref="CDD:270686"
     Site            order(338..343,346,361,363,408..412,414..415,459..460,462,
                     472..473)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270686"
     Site            order(356,388..391,394,396,409,434,437..438,441,465,
                     467..468,588,591..592,595)
                     /site_type="other"
                     /note="SH2 linker interface [polypeptide binding]"
                     /db_xref="CDD:270686"
     Site            order(455,459,492..496,505,539)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270686"
     Site            472..498
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270686"
     CDS             1..613
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /coded_by="XM_047445774.1:200..2041"
                     /db_xref="GeneID:7535"
                     /db_xref="HGNC:HGNC:12858"
                     /db_xref="MIM:176947"
ORIGIN      
        1 mpdpaahlpf fygsisraea eehlklagma dglfllrqcl rslggyvlsl vhdvrfhhfp
       61 ierqlngtya iaggkahcgp aelcefysrd pdglpcnlrk pcnrpsglep qpgvfdclrd
      121 amvrdyvrqt wklegealeq aiisqapqve kliattaher mpwyhssltr eeaerklysg
      181 aqtdgkfllr prkeqgtyal sliygktvyh ylisqdkagk ycipegtkfd tlwqlveylk
      241 lkadgliycl keacpnssas nasgaaaptl pahpstlthp qrridtlnsd gytpepdkpr
      301 pmpmdtsvye spysdpeelk dkklflkrdn lliadielgc gnfgsvrqgv yrmrkkqidv
      361 aikvlkqgte kadteemmre aqimhqldnp yivrligvcq aealmlvmem agggplhkfl
      421 vgkreeipvs nvaellhqvs mgmkyleekn fvhrdlaarn vllvnrhyak isdfglskal
      481 gaddsyytar sagkwplkwy apecinfrkf ssrsdvwsyg vtmwealsyg qkpykkmkgp
      541 evmafieqgk rmecppecpp elyalmsdcw iykwedrpdf ltveqrmrac yyslaskveg
      601 ppgstqkaea aca
//
LOCUS       XP_047296750             865 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and BTB domain-containing protein 21 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047296750
VERSION     XP_047296750.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440794.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..865
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..865
                     /product="zinc finger and BTB domain-containing protein 21
                     isoform X2"
                     /calculated_mol_wt=95677
     Region          12..123
                     /region_name="BTB_POZ_ZBTB21_ZNF295"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in zinc finger and
                     BTB domain-containing protein 21 (ZBTB21); cd18209"
                     /db_xref="CDD:349518"
     Region          545..572
                     /region_name="zf_C2H2_6"
                     /note="Zinc Finger domain; pfam18450"
                     /db_xref="CDD:408245"
     Region          710..730
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Site            order(715,717,719,721..722,725..726,729,743,745..747,
                     753..754,758)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275370"
     Region          738..759
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Region          842..864
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     CDS             1..865
                     /gene="ZBTB21"
                     /gene_synonym="ZNF295"
                     /coded_by="XM_047440794.1:319..2916"
                     /db_xref="GeneID:49854"
                     /db_xref="HGNC:HGNC:13083"
                     /db_xref="MIM:616485"
ORIGIN      
        1 megllhyinp ahaisllsal neerlkgqlc dvllivgdqk frahknvlaa sseyfqslft
       61 nkenesqtvf qldfcepdaf dnvlnyiyss slfvekssla avqelgyslg isfltnivsk
      121 tpqapfptcp nrkkvfvedd enssqkrsvi vcqsrneaqg ktvsqnqpdv shtsrpspsi
      181 avkantnkph vpkpieplhn lsltekswpk dssvvyaksl ehsgslddpn rislvkrnav
      241 lpskplqdre amddkpgvsg qlpkgkalel alkrprppvl svcsssetpy llketnkgng
      301 qgedrnllyy sklglvipss gsgsgnqsid rsgplvksll rrslsmdsqv pvyspsidlk
      361 ssqgsssvss dapgnvlcal sqksslkdcs ektalddrpq vlqphrlrsf sasqstdreg
      421 aspvtevrik tepssplsdp sdiirvtvgd aattaaasss svtrdlslkt eddqkdmsrl
      481 pakrrfqadr rlpfkklkvn ehgspvsedn feegssptll dadfpdsdln kdefeqgshe
      541 rlcrnaavcp ycslrffspe lkqeheskce ykkltclecm rtfkssfsiw rhqvevhnqn
      601 nmaptenfsl pvldhngdvt gssrpqsqpe pnkvnhivtt kddnvfsdss eqvnfdseds
      661 sclpedlsls kqlkiqvkee pveeaeeeap eastapkeag pskeaslwpc ekcgkmftvh
      721 kqlerhqell csvkpfichv cnkafrtnfr lwshfqshms qaseesahke sevcpvptns
      781 psppplpppp plpkiqplep dsptglsenp tpateklfvp qesdtlfyha pplsaitfkr
      841 qfmcklchrt fktafslwsh eqthn
//
LOCUS       XP_011528038            1533 aa            linear   PRI 20-MAR-2023
DEFINITION  transient receptor potential cation channel subfamily M member 2
            isoform X1 [Homo sapiens].
ACCESSION   XP_011528038
VERSION     XP_011528038.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011529736.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1533
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..1533
                     /product="transient receptor potential cation channel
                     subfamily M member 2 isoform X1"
                     /calculated_mol_wt=174010
     Region          141..364
                     /region_name="LSDAT_euk"
                     /note="SLOG in TRPM; cl39032"
                     /db_xref="CDD:453937"
     Region          803..>979
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1356..1529
                     /region_name="ADPRase_NUDT9"
                     /note="ADP-ribose pyrophosphatase (ADPRase) catalyzes the
                     hydrolysis of ADP-ribose to AMP and ribose-5-P. Like other
                     members of the Nudix hydrolase superfamily of enzymes, it
                     is thought to require a divalent cation, such as Mg2+, for
                     its activity. It also...; cd03670"
                     /db_xref="CDD:239642"
     Site            order(1379,1409,1419,1435,1459,1461,1463,1515,1518)
                     /site_type="active"
                     /db_xref="CDD:239642"
     Site            1420..1442
                     /site_type="other"
                     /note="nudix motif"
                     /db_xref="CDD:239642"
     CDS             1..1533
                     /gene="TRPM2"
                     /gene_synonym="EREG1; KNP3; LTrpC-2; LTRPC2; NUDT9H;
                     NUDT9L1; TRPC7"
                     /coded_by="XM_011529736.3:81..4682"
                     /db_xref="GeneID:7226"
                     /db_xref="HGNC:HGNC:12339"
                     /db_xref="MIM:603749"
ORIGIN      
        1 mepsalrkag seqeegfegl prrvtdlgmv snlrrsnssl fkswrlqcpf gnndkqesls
       61 swipenikkk ecvyfvessk lsdagkvvcq cgytheqhle eatkphtfqg tqwdpkkhvq
      121 emptdafgdi vftglsqkvk kyvrvsqdtp ssviyhlmtq hwgldvpnll isvtggaknf
      181 nmkprlksif rrglvkvaqt tgawiitggs htgvmkqvge avrdfslsss ykegelitig
      241 vatwgtvhrr eglihptgsf paeyildedg qgnltcldsn hshfilvddg thgqygveip
      301 lrtrlekfis eqtkerggva ikipivcvvl eggpgtlhti dnattngtpc vvvegsgrva
      361 dviaqvanlp vsditisliq qklsvffqem fetftesriv ewtkkiqdiv rrrqlltvfr
      421 egkdgqqdvd vailqallka srsqdhfghe nwdhqlklav awnrvdiars eifmdewqwk
      481 psdlhptmta alisnkpefv klflengvql kefvtwdtll ylyenldpsc lfhsklqkvl
      541 vedperpaca paaprlqmhh vaqvlrellg dftqplyprp rhndrlrlll pvphvklnvq
      601 gvslrslykr ssghvtftmd pirdlliwai vqnrrelagi iwaqsqdcia aalacskilk
      661 elskeeedtd sseemlalae eyehraigvf tecyrkdeer aqklltrvse awgkttclql
      721 aleakdmkfv shggiqaflt kvwwgqlsvd nglwrvtlcm lafpllltgl isfrekrlqd
      781 vgtpaarara fftapvvvfh lnilsyfafl clfayvlmvd fqpvpswcec aiylwlfslv
      841 ceemrqlfyd pdecglmkka alyfsdfwnk ldvgaillfv agltcrlipa tlypgrvils
      901 ldfilfclrl mhiftisktl gpkiiivkrm mkdvffflfl lavwvvsfgv akqailihne
      961 rrvdwlfrga vyhsyltifg qipgyidgvn fnpehcspng tdpykpkcpe sdatqqrpaf
     1021 pewltvlllc lyllftnill lnlliamfny tfqqvqehtd qiwkfqrhdl ieeyhgrpaa
     1081 pppfillshl qlfikrvvlk tpakrhkqlk nklekneeaa llsweiylke nylqnrqfqq
     1141 kqrpeqkied isnktsaaqp sgsamlstvl plssshlasf qgarvdamvd lldldplkrs
     1201 gsmeqrlasl eeqvaqtaqa lhwivrtlra sgfsseadvp tlasqkaaee pdaepggrkk
     1261 teepgdsyhv narhllypnc pvtrfpvpne kvpwetefli ydppfytaer kdaaamdpmg
     1321 dtleplstiq ynvvdglrdr rsfhgpytvq aglplnpmgr tglrgrgsls cfgpnhtlyp
     1381 mvtrwrrned gaicrksikk mlevlvvklp lsehwalpgg srepgemlpr klkrilrqeh
     1441 wpsfenllkc gmevykgymd dprntdnawi etvavsvhfq dqndvelnrl nsnlhacdsg
     1501 asirwqvvdr riplyanhkt llqkaaaefg ahy
//
LOCUS       XP_047303388             230 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM3D isoform X1 [Homo sapiens].
ACCESSION   XP_047303388
VERSION     XP_047303388.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447432.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..230
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..230
                     /product="protein FAM3D isoform X1"
                     /calculated_mol_wt=25349
     Region          56..226
                     /region_name="ILEI_FAM3C"
                     /note="Interleukin-like EMT inducer; cd13940"
                     /db_xref="CDD:260114"
     CDS             1..230
                     /gene="FAM3D"
                     /gene_synonym="EF7; OIT1"
                     /coded_by="XM_047447432.1:80..772"
                     /db_xref="GeneID:131177"
                     /db_xref="HGNC:HGNC:18665"
                     /db_xref="MIM:608619"
ORIGIN      
        1 mrvsaspcsa gvlrllalif aivttwmfir symsfsmkti rlprwlaasp tkeiqvkkyk
       61 cglikpcpan yfafkicsga anvvgptmcf edrmimspvk nnvgrglnia lvngttgavl
      121 gqkafdmysg dvmhlvkflk eipggalvlv asyddpgtkm ndesrklfsd lgssyakqlg
      181 frdswvfiga kdlrgkspfe qflknspdtn kyegwpelle megcmppkpf
//
LOCUS       XP_047305574             296 aa            linear   PRI 20-MAR-2023
DEFINITION  PACRG-like protein isoform X2 [Homo sapiens].
ACCESSION   XP_047305574
VERSION     XP_047305574.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449618.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..296
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..296
                     /product="PACRG-like protein isoform X2"
                     /calculated_mol_wt=32776
     Region          126..293
                     /region_name="ParcG"
                     /note="Parkin co-regulated protein; pfam10274"
                     /db_xref="CDD:431190"
     CDS             1..296
                     /gene="PACRGL"
                     /gene_synonym="C4orf28"
                     /coded_by="XM_047449618.1:202..1092"
                     /db_xref="GeneID:133015"
                     /db_xref="HGNC:HGNC:28442"
ORIGIN      
        1 mwnphirran cnlslsllqe qlfdvkedrn laikfhpklp lnwsereamq ksegsggtql
       61 knratgnydq rtssstqlkh rnavqgskss lstsspesar klhprpsdkl npktinpfge
      121 qsrvpsafaa iyskggipcr lvhgsvkhrl qwecppesls fdpllitlae glretkhpyt
      181 fvskegfrel llvkgapeka ipllprlipv lkaalvhsdd evferglnal vqlsvvvgps
      241 lndhlkhllt slskrlmdkk fkepitsalq kleqhggsgs lsiikskipt ycsicc
//
LOCUS       XP_016863385            1598 aa            linear   PRI 20-MAR-2023
DEFINITION  LIM and calponin homology domains-containing protein 1 isoform X15
            [Homo sapiens].
ACCESSION   XP_016863385
VERSION     XP_016863385.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017007896.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1598
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1598
                     /product="LIM and calponin homology domains-containing
                     protein 1 isoform X15"
                     /calculated_mol_wt=178181
     Region          23..140
                     /region_name="CH_LIMCH1"
                     /note="calponin homology (CH) domain found in LIM and
                     calponin homology domains-containing protein 1; cd21278"
                     /db_xref="CDD:409127"
     Site            order(23,27,77,79..80,83..84,86,96..104,122,124..125,
                     127..128,131..132,135)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409127"
     Region          250..>311
                     /region_name="DUF4757"
                     /note="Domain of unknown function (DUF4757); pfam15949"
                     /db_xref="CDD:435034"
     Region          813..962
                     /region_name="DUF4757"
                     /note="Domain of unknown function (DUF4757); pfam15949"
                     /db_xref="CDD:435034"
     Region          1528..1585
                     /region_name="LIM"
                     /note="Zinc-binding domain present in Lin-11, Isl-1,
                     Mec-3; smart00132"
                     /db_xref="CDD:214528"
     Site            order(1528,1531,1551,1554,1557,1560,1582,1585)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:259829"
     CDS             1..1598
                     /gene="LIMCH1"
                     /gene_synonym="LIMCH1A; LMO7B"
                     /coded_by="XM_017007896.2:35..4831"
                     /db_xref="GeneID:22998"
                     /db_xref="HGNC:HGNC:29191"
                     /db_xref="MIM:617750"
ORIGIN      
        1 macpalglea lqplqpeppp epafseaqkw ieqvtgrsfg dkdfrtglen gillcellna
       61 ikpglvkkin rlptpiagld niilflrgck elglkesqlf dpsdlqdtsn rvtvksldys
      121 rklknvlvti ywlgkaansc tsysgttlnl kefegllaqm rkdtddiesp krsirdsgyi
      181 dcwdsersds lspprhgrdd sfdsldsfgs rsrqtpspdv vlrgssdgrg sdsesdlphr
      241 klpdvkkddm sarrtshgep ksavpfnqyl pnksnqtayv paplrkkkae reeyrkswst
      301 atsplggerp fsfpetieee gsevgsaged npagqmnpgw kpsdggcelp dgsgkehpss
      361 dgavvapapk seekdaaeiq krkrleqagi kvmpaaqrfa sqkqlseeke airdivlrke
      421 nsflthqhgn dseaegevvc rlpdlekddf aarrarmnqt kpmvplnqll ygpypkkgae
      481 ksdgskqlsk giskkrsley krnqghteev klivtcnmra qesepveggl rkvpdlhkdd
      541 laqqriqgsl aphreppsfi tlsniteadl etwerlkvse kardgdvqhi casepspeik
      601 aetairddfa nrkaraskka ssprqkfvhf gpvteldqqk wkrlsigkag predeeevic
      661 hgskiqmdsv spvsaatssl kghqifnrqn dcrtmncgrg dycrraswla pvpesqeewv
      721 cslgecprgt eevtskqlpq dgkeetesap rdserlskae rsedssqplv cplaseceas
      781 gteeklekmt apawsgsglk gqrklddsrk ddmmarrtgm slrhtgsnpn qflpvpfakq
      841 qdveesskgl pmkdqrygpr tpvsddaest smfdmrceee aavqphsrar qeqlqlinnq
      901 lreeddkwqd dlarwksrrr svsqdlikke eerkkmekll agedgtserr ksiktyreiv
      961 qekerrerel heayknarsq eeaegilqqy ierftiseav lerlempkil ershstepnl
     1021 ssflndpnpm kylrqqslpp pkftatvett iarasvldts msagsgspsk tvtpkavpml
     1081 tpkpysqpkn sqdvlktfkv dgkvsvnget vhreeekere cptvapahsl tksqmfegva
     1141 rvhgsplelk qdngsieini kkpnsvpqel aattektepn sqedkndggk srkgnielas
     1201 sepqhftttv trcsptvafv efpsspqlkn dvseekdqkk penemsgkve lvlsqkvvkp
     1261 kspepeatlt fpfldkmpea nqlhlpnlns qespgtasvp lrvqnswrrs qffsqsvdsp
     1321 ssekspvmtp eryqkeqdkl keewekaqke veeeerryye eerkiiedtv vpftvssssa
     1381 dqlstsssmt egsgtmnkid lgncqdekqd rrwkksfqgd dsdlllktre sdrleekgsl
     1441 tegalahsgn pvskgvhedh qldteagaph cgtnpqlaqd psqnqqtsnp thssedvkpk
     1501 tlpldksinh qiespserrk sisgkklcss cglplgkgaa miietlnlyf hiqcfrcgic
     1561 kgqlgdavsg tdvrirngll ncndcymrsr sagqpttl
//
LOCUS       XP_047274455            1245 aa            linear   PRI 20-MAR-2023
DEFINITION  SAM and SH3 domain-containing protein 1 isoform X6 [Homo sapiens].
ACCESSION   XP_047274455
VERSION     XP_047274455.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418499.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1245
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1245
                     /product="SAM and SH3 domain-containing protein 1 isoform
                     X6"
                     /calculated_mol_wt=137004
     Region          401..553
                     /region_name="SLY"
                     /note="Lymphocyte signaling adaptor protein; pfam12485"
                     /db_xref="CDD:432587"
     Region          555..611
                     /region_name="SH3_SASH1"
                     /note="Src homology 3 domain of SAM And SH3 Domain
                     Containing Protein 1; cd11967"
                     /db_xref="CDD:212900"
     Site            order(561,563,566,572,590..591,604,606..607)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212900"
     Region          631..696
                     /region_name="SAM_SASH1_repeat1"
                     /note="SAM domain of SASH1 proteins, repeat 1; cd09559"
                     /db_xref="CDD:188958"
     Region          842..>1084
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     Region          1171..1240
                     /region_name="SAM_SASH1_repeat2"
                     /note="SAM domain of SASH1 proteins, repeat 2; cd09492"
                     /db_xref="CDD:188891"
     CDS             1..1245
                     /gene="SASH1"
                     /gene_synonym="CAPOK; dJ323M4.1; DUH1; SH3D6A"
                     /coded_by="XM_047418499.1:129..3866"
                     /db_xref="GeneID:23328"
                     /db_xref="HGNC:HGNC:19182"
                     /db_xref="MIM:607955"
ORIGIN      
        1 mrqtskgedv gyvaseitms deeriqlmmm vkekmitiee alarlkeyea qhrqsaaldp
       61 adwpdgsypt fdgssncnsr eqsddetees vkfkrlhklv nstrrvrkkl irveemkkps
      121 teggeehvfe nspvldersa lysgvhkkpl ffdgspekpp eddsdsltts pssssldtwg
      181 agrklvktfs kgesrglikp pkkmgtffsy peeekaqkvs rsltegemkk glgslshgvs
      241 tdgvcfydnh rrrhhllvsl eefqsvrkqi rlkktdtnys csraflcqrp srkgvtsttc
      301 dlqllrqkgk gggscgfpgr rvrgrtsvse fnityvvers lyshlnltql vrpasdrtls
      361 kaerqdlrrc lleedeeakr kwaatvdrct krvllrihqk srtcsfggfd ltnrslhvgs
      421 nnsdpmgkeg dfvykeviks ptasrislgk kvksvketmr krmskkysss vseqdsgldg
      481 mpgspppsqp dpehldkpkl kaggsveslr sslsgqssms gqtvsttdss tsnresvkse
      541 dgddeeppyr gpfcgrarvh tdftpspydt dslklkkgdi idiiskppmg twmgllnnkv
      601 gtfkfiyvdv lsedeekpkr ptrrrrkgrp pqpksvedll drinlkehmp tflfngyedl
      661 dtfklleeed ldelnirdpe hravlltave llqeydsnsd qsgsqekllv dsqglsgcsp
      721 rdsgcyesse nlengktrka sllsaksste pslksfsrnq lgnyptlplm ksgdalkqgq
      781 eegrlgggla pdtskscdpp gvtglnknrr slpvsicrsc etlegpqtvd twprshsldd
      841 lqvepgaeqd vptevteppp qivpevpqkt tasstkaqpl eqdsavdnal lltqskrfse
      901 pqklttkkle gsiaasgrgl sppqclprny daqppgakhg lartpleghr kghefegthh
      961 plgtkegvda eqrmqpkips qpppvpakks rerlanglhp vpmgpsgalp spdapclpvk
     1021 rgspasptsp sdcppalapr plsgqapgsp pstrpppwls elpentslqe hgvklgpalt
     1081 rkvscargvd letltenklh aegidlteep ysdkhgrcgi pealvqryae dldqperdva
     1141 anmdqirvkq lrkqhrmaip sgglteicrk pvspgcissv sdwlisiglp myagtlstag
     1201 fstlsqvpsl shtclqeagi teerhirkll saarlfklpp gpeam
//
LOCUS       XP_047275048             413 aa            linear   PRI 20-MAR-2023
DEFINITION  probable arginine--tRNA ligase, mitochondrial isoform X2 [Homo
            sapiens].
ACCESSION   XP_047275048
VERSION     XP_047275048.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419092.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..413
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..413
                     /product="probable arginine--tRNA ligase, mitochondrial
                     isoform X2"
                     /calculated_mol_wt=46962
     Region          <2..401
                     /region_name="ArgS"
                     /note="Arginyl-tRNA synthetase [Translation, ribosomal
                     structure and biogenesis]; COG0018"
                     /db_xref="CDD:223097"
     CDS             1..413
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /coded_by="XM_047419092.1:774..2015"
                     /db_xref="GeneID:57038"
                     /db_xref="HGNC:HGNC:21406"
                     /db_xref="MIM:611524"
ORIGIN      
        1 mqfgllgtgf qlfgyeeklq snplqhlfev yvqvnkeaad dksvakaaqe ffqrlelgdv
       61 qalslwqkfr dlsieeyirv ykrlgvyfde ysgesfyrek sqevlklles kglllktikg
      121 tavvdlsgng dpssictvmr sdgtslyatr dlaaaidrmd kynfdtmiyv tdkgqkkhfq
      181 qvfqmlkimg ydwaercqhv pfgvvqgmkt rrgdvtfled vlneiqlrml qnmasikttk
      241 elknpqetae rvglaaliiq dfkglllsdy kfswdrvfqs rgdtgvflqy tharlhslee
      301 tfgcgylndf ntaclqepqs vsilqhllrf devlykssqd fqprhivsyl ltlshlaava
      361 hktlqikdsp pevagarlhl fkavrsvlan gmkllgitpm efrsccpgws amv
//
LOCUS       XP_005249410             278 aa            linear   PRI 20-MAR-2023
DEFINITION  cysteine-rich secretory protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_005249410
VERSION     XP_005249410.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005249353.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..278
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..278
                     /product="cysteine-rich secretory protein 2 isoform X1"
                     /calculated_mol_wt=31450
     Region          35..172
                     /region_name="CAP_CRISP"
                     /note="CAP (cysteine-rich secretory proteins, antigen 5,
                     and pathogenesis-related 1 proteins) domain of
                     cysteine-rich secretory proteins; cd05383"
                     /db_xref="CDD:349402"
     Region          224..278
                     /region_name="Crisp"
                     /note="pfam08562"
                     /db_xref="CDD:430075"
     CDS             1..278
                     /gene="CRISP2"
                     /gene_synonym="CRISP-2; CT36; GAPDL5; TPX1; TSP1"
                     /coded_by="XM_005249353.5:220..1056"
                     /db_xref="GeneID:7180"
                     /db_xref="HGNC:HGNC:12024"
                     /db_xref="MIM:187430"
ORIGIN      
        1 mallpvlflv tvllpslpae gkdpaftall ttqlqvqrei vnkhnelrka vsppasnmlk
       61 mewsrevttn aqrwankctl qhsdpedrkt strcgenlym ssdptswssa iqswydeild
      121 fvygvgpksp navvghytql vwystyqvgc giaycpnqds lkyyyvcqyc pamktylnkr
      181 eginvwkcfl rlrhfqllrg eqlltfsgnn mnrkntpyqq gtpcagcpdd cdkglctnsc
      241 qyqdllsncd slkntagceh ellkekckat clcenkiy
//
LOCUS       XP_047275373             239 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription initiation protein SPT3 homolog isoform X4 [Homo
            sapiens].
ACCESSION   XP_047275373
VERSION     XP_047275373.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419417.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..239
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..239
                     /product="transcription initiation protein SPT3 homolog
                     isoform X4"
                     /calculated_mol_wt=27220
     Region          46..127
                     /region_name="TAF13"
                     /note="The TATA Binding Protein (TBP) Associated Factor 13
                     (TAF13) is one of several TAFs that bind TBP and is
                     involved in forming Transcription Factor IID (TFIID)
                     complex; cl02174"
                     /db_xref="CDD:242920"
     CDS             1..239
                     /gene="SUPT3H"
                     /gene_synonym="SPT3; SPT3L"
                     /coded_by="XM_047419417.1:52..771"
                     /db_xref="GeneID:8464"
                     /db_xref="HGNC:HGNC:11466"
                     /db_xref="MIM:602947"
ORIGIN      
        1 mvvfgttffn fdsfigktds ieiigksvfp ycyhnilpll ndsgryslgd arrplhetav
       61 lvedvvhtql inllqqaaev sqlrgarvit pedllflmrk dkkklrrllk ymfirdyksk
      121 ivkgideddl ledklsgsnn ankrqkiaqd flnsidqtge llamfeddei devkqermer
      181 aerqtrimds aqyaefcesr qlsffsgsgs scearhgnqg rgplqpchfc nlhsvsqlc
//
LOCUS       XP_047275654             326 aa            linear   PRI 20-MAR-2023
DEFINITION  dnaJ homolog subfamily B member 6 isoform X2 [Homo sapiens].
ACCESSION   XP_047275654
VERSION     XP_047275654.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419698.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..326
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..326
                     /product="dnaJ homolog subfamily B member 6 isoform X2"
                     /calculated_mol_wt=35956
     Region          2..>106
                     /region_name="DnaJ"
                     /note="DnaJ-class molecular chaperone with C-terminal Zn
                     finger domain [Posttranslational modification, protein
                     turnover, chaperones]; COG0484"
                     /db_xref="CDD:223560"
     CDS             1..326
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /coded_by="XM_047419698.1:285..1265"
                     /db_xref="GeneID:10049"
                     /db_xref="HGNC:HGNC:14888"
                     /db_xref="MIM:611332"
ORIGIN      
        1 mvdyyevlgv qrhaspedik kayrklalkw hpdknpenke eaerkfkqva eayevlsdak
       61 krdiydkygk eglngggggg shfdspfefg ftfrnpddvf reffggrdpf sfdffedpfe
      121 dffgnrrgpr gsrsrgtgsf fsafsgfpsf gsgfssfdtg ftsfgslghg gltsfsstsf
      181 ggsgmgnfks iststkmvng rkittkrive ngqervevee dgqlksltin gvadddalae
      241 ermrrgqnal paqpaglrpp kpprpasllr haphclseee geqdrprapg pwdplasaag
      301 lkeggkrkkq kqreeskkkk stkgnh
//
LOCUS       XP_047276485             488 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF216 isoform X5 [Homo sapiens].
ACCESSION   XP_047276485
VERSION     XP_047276485.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420529.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..488
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..488
                     /product="E3 ubiquitin-protein ligase RNF216 isoform X5"
                     /calculated_mol_wt=56566
     Region          135..191
                     /region_name="RING-HC_RBR_RNF216"
                     /note="RING finger, HC subclass, found in RING finger
                     protein 216 (RNF216) and similar proteins; cd16630"
                     /db_xref="CDD:438292"
     Region          224..275
                     /region_name="BRcat_RBR_RNF216"
                     /note="BRcat domain found in RING finger protein 216
                     (RNF216); cd20339"
                     /db_xref="CDD:439000"
     Region          286..342
                     /region_name="Rcat_RBR_RNF216"
                     /note="Rcat domain found in RING finger protein 216
                     (RNF216); cd20353"
                     /db_xref="CDD:439014"
     CDS             1..488
                     /gene="RNF216"
                     /gene_synonym="CAHH; TRIAD3; U7I1; UBCE7IP1; ZIN"
                     /coded_by="XM_047420529.1:287..1753"
                     /db_xref="GeneID:54476"
                     /db_xref="HGNC:HGNC:21698"
                     /db_xref="MIM:609948"
ORIGIN      
        1 madfkvlssq dikwalhelk ghyaitrkal sdaikkwqel spetsgkrkk rkqmnqysyi
       61 dfkfeqgdik iekrmfflen krrhcrsydr rallpavqqe qefyeqkike maehedflla
      121 lqmneeqyqk dgqliecrcc ygefpfeelt qcadahlfck ecliryaqea vfgsgklels
      181 cmegsctcsf ptselekvlp qtilykyyer kaeeevaaay adelvrcpsc sfpalldsdv
      241 krfscpnphc rketcrkcqg lwkehngltc eelaekddik yrtsieekmt aarirkchkc
      301 gtgliksegc nrmscrcgaq mcylcrvsin gydhfcqhpr spgapcqecs rcslwtdpte
      361 ddeklieeiq keaeeeqkrk ngentfkrig pplekpvekv qrvealprpv pqnlpqpqmp
      421 pyafahppfp lppvrpvfnn fplnmgpipa pyvpplpnvr vnydfgpihm plehnlpmhf
      481 gpqprhrf
//
LOCUS       XP_011513841             178 aa            linear   PRI 20-MAR-2023
DEFINITION  vesicular, overexpressed in cancer, prosurvival protein 1 isoform
            X1 [Homo sapiens].
ACCESSION   XP_011513841
VERSION     XP_011513841.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011515539.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..178
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..178
                     /product="vesicular, overexpressed in cancer, prosurvival
                     protein 1 isoform X1"
                     /calculated_mol_wt=20544
     CDS             1..178
                     /gene="VOPP1"
                     /gene_synonym="ECOP; GASP; WBP1L2"
                     /coded_by="XM_011515539.2:179..715"
                     /db_xref="GeneID:81552"
                     /db_xref="HGNC:HGNC:34518"
                     /db_xref="MIM:611915"
ORIGIN      
        1 mrrqpakvaa lllglllect eakkhcwyfe glyptyyicr syedccgsrc cvralsiqrl
       61 wyfwfllmmg vlfccgagff irrrmypppl ieepafnvsy trqppnpgpd hillddrdyh
      121 lhlhahkvsh ckaeltptfl wsasccylee aynilhpeas cphltaeehs gvllreal
//
LOCUS       XP_047278310             302 aa            linear   PRI 20-MAR-2023
DEFINITION  putative protein N-methyltransferase FAM86B1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047278310
VERSION     XP_047278310.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422354.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..302
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..302
                     /product="putative protein N-methyltransferase FAM86B1
                     isoform X4"
                     /calculated_mol_wt=32388
     Region          <104..231
                     /region_name="AdoMet_MTases"
                     /note="S-adenosylmethionine-dependent methyltransferases
                     (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes
                     that use S-adenosyl-L-methionine (SAM or AdoMet) as a
                     substrate for methyltransfer, creating the product
                     S-adenosyl-L-homocysteine (AdoHcy); cl17173"
                     /db_xref="CDD:450167"
     CDS             1..302
                     /gene="FAM86B1"
                     /coded_by="XM_047422354.1:1725..2633"
                     /db_xref="GeneID:85002"
                     /db_xref="HGNC:HGNC:28268"
                     /db_xref="MIM:616122"
ORIGIN      
        1 mvysamwwma tcllshlpsd rwtdslalsw cspqeaqshs praqpssptv pqawshgmpp
       61 stlqngpsrt rqpsltgdlg aqgraprqay pgaventvpf ppartvlelg sgagltglai
      121 ckmcrprayi fsdphsrvle qlrgnvllng lsleaditgn ldsprvtvaq ldwdvamvhq
      181 lsafqpdvvi aadvlycpea ivslvgvlqr laacrehkra pevyvaftvr npetcqlftt
      241 elgepprppg ptwcpscpcr tpvevkelga geklgcstlp hyagnsgrgr pgwdqmgsgs
      301 ss
//
LOCUS       XP_047280141             574 aa            linear   PRI 20-MAR-2023
DEFINITION  maternal embryonic leucine zipper kinase isoform X9 [Homo sapiens].
ACCESSION   XP_047280141
VERSION     XP_047280141.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424185.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..574
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..574
                     /product="maternal embryonic leucine zipper kinase isoform
                     X9"
                     /calculated_mol_wt=65551
     Region          7..215
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(17..20,23,25,38,40,70,86..87,88..89,91,101..102)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     Region          478..572
                     /region_name="MELK_C"
                     /note="C-terminal kinase associated domain 1 (KA1) of
                     Maternal embryonic leucine zipper kinase; cd12198"
                     /db_xref="CDD:213383"
     Site            order(478,481,550,552..553)
                     /site_type="other"
                     /note="putative phospholipid binding site [chemical
                     binding]"
                     /db_xref="CDD:213383"
     CDS             1..574
                     /gene="MELK"
                     /gene_synonym="HPK38"
                     /coded_by="XM_047424185.1:343..2067"
                     /db_xref="GeneID:9833"
                     /db_xref="HGNC:HGNC:16870"
                     /db_xref="MIM:607025"
ORIGIN      
        1 mkdydellky yelhetigtg gfakvklach iltgemvaik imdkntlgsd lprikteiea
       61 lknlrhqhic qlyhvletan kifmvleenl lfdeyhklkl idfglcakpk gnkdyhlqtc
      121 cgslayaape liqgksylgs eadvwsmgil lyvlmcgflp fdddnvmaly kkimrgkydv
      181 pkwlspssil llqqmlqvdp kkrismknll nhpwimqdyn ypvewqsknp wqydhltaty
      241 llllakkarg kpvrlrlssf scgqasatpf tdiksnnwsl edvtasdkny vaglidydwc
      301 eddlstgaat prtsqftkyw tesngvesks ltpalcrtpa nklknkenvy tpksavknee
      361 yfmfpepktp vnknqhkrei lttpnryttp skarnqclke tpikipvnst gtdklmtgvi
      421 sperrcrsve ldlnqahmee tpkrkgakvf gslergldkv itvltrskrk gsardgprrl
      481 klhynvtttr lvnpdqllne imsilpkkhv dfvqkgytlk cqtqsdfgkv tmqfelevcq
      541 lqkpdvvgir rqrlkgdawv ykrlvedils sckv
//
LOCUS       XP_005274802             630 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 185 isoform X34 [Homo sapiens].
ACCESSION   XP_005274802
VERSION     XP_005274802.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005274745.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..630
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..630
                     /product="zinc finger protein 185 isoform X34"
                     /calculated_mol_wt=67150
     Region          <274..457
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     Region          569..625
                     /region_name="LIM"
                     /note="Zinc-binding domain present in Lin-11, Isl-1,
                     Mec-3; smart00132"
                     /db_xref="CDD:214528"
     Site            order(570,573,593,596,599,602,622,625)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:259829"
     CDS             1..630
                     /gene="ZNF185"
                     /gene_synonym="SCELL"
                     /coded_by="XM_005274745.3:218..2110"
                     /db_xref="GeneID:7739"
                     /db_xref="HGNC:HGNC:12976"
                     /db_xref="MIM:300381"
ORIGIN      
        1 msisalggrt kgkplppgee ernnvlkqmk vrttlkgdks witkqdeseg rtielpsgrs
       61 ratsfssage vpkprppstr aptgyiirgv ftkpidsssq pqqqfpkang tpksaaslvr
      121 tanagpprps ssgykmtted ykklapynir rsstsgdtee eeeeevvpfs sdeqkrrsea
      181 asgvlrrtap rehsyvlsaa kkstgptqet qapfiakrve vveedgpsek sqdppalars
      241 tpgsnrsspg nkdkeapcsr elqrdlagee afrapntdaa rssaqlsdgn vgsgatgsrp
      301 eglaavdigs ergsssatsv savpadrksn staaqedaka dpkgaladye gkdvatrvge
      361 awqerpgapr ggqgdpavpa qqpadpstpe rqsspsgseq lvrrescgss vltdfegkdv
      421 atkvgeawqd rpgaprggqg dpavptqqpa dpstpeqqns psgseqfvrr esctsrvrsp
      481 sscmvtvtvt atseqphiyi papaseldss sttkgilfvk eyvnasevss gkpvsarysn
      541 vssiedsfam ekkppcgstp yserttggic tycnreirdc pkitlehlgi ccheycfkcg
      601 icskpmgdll dqifihrdti hcgkcyeklf
//
LOCUS       XP_054186689            1037 aa            linear   PRI 20-MAR-2023
DEFINITION  NACHT, LRR and PYD domains-containing protein 7 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054186689
VERSION     XP_054186689.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330714.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571057.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1037
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..1037
                     /product="NACHT, LRR and PYD domains-containing protein 7
                     isoform X5"
                     /calculated_mol_wt=118173
     CDS             1..1037
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /coded_by="XM_054330714.1:288..3401"
                     /db_xref="GeneID:199713"
                     /db_xref="HGNC:HGNC:22947"
                     /db_xref="MIM:609661"
ORIGIN      
        1 mtspqlewtl qtlleqlned elksfksllw afpledvlqk tpwseveead gkklaeilvn
       61 tssenwirna tvnileemnl telckmakae mmedgqvqei dnpelgdaee dselakpgek
      121 egwrnsmekq slvwkntfwq gdidnfhddv tlrnqrfipf lnprtprklt pytvvlhgpa
      181 gvgkttlakk cmldwtdcnl sptlryafyl sckelsrmgp csfaeliskd wpelqddips
      241 ilaqaqrilf vvdgldelkv ppgaliqdic gdwekkkpvp vllgsllkrk mlpraallvt
      301 trpralrdlq llaqqpiyvr vegfleedrr ayflrhfgde dqamrafelm rsnaalfqlg
      361 sapavcwivc ttlklqmekg edpvptcltr tglflrflcs rfpqgaqlrg alrtlsllaa
      421 qglwaqmsvf hredlerlgv qesdlrlfld gdilrqdrvs kgcysfihls fqqfltalfy
      481 alekeegedr dghawdigdv qkllsgeerl knpdliqvgh flfglanekr akeleatfgc
      541 rmspdikqel lqckahlhan kplsvtdlke vlgclyesqe eelakvvvap fkeisihltn
      601 tsevmhcsfs lkhcqdlqkl slqvakgvfl enymdfeldi eferctylti pnwarqdlrs
      661 lrlwtdfcsl fssnsnlkfl evkqsflsds svrilcdhvt rstchlqkve iknvtpdtay
      721 rdfclafigk ktlthltlag hiewertmml mlcdllrnhk cnlqylrlgg hcatpeqwae
      781 ffyvlkanqs lkhlrlsanv lldegamlly ktmtrpkhfl qmlslencrl teasckdlaa
      841 vlvvskklth lclaknpigd tgvkflcegl sypdcklqtl vlqqcsitkl gcrylsealq
      901 eacsltnldl sinqiarglw ilcqalenpn cnlkhlrlws cslmpfycqh lgsallsnqk
      961 letldlgqnh lwksgiiklf gvlrqrtgsl kilrlktyet nleikkllee vkeknpklti
     1021 dcnasgatap pccdffc
//
LOCUS       XP_054189925             382 aa            linear   PRI 20-MAR-2023
DEFINITION  myotubularin-related protein 11 isoform X4 [Homo sapiens].
ACCESSION   XP_054189925
VERSION     XP_054189925.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054333950.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..382
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..382
                     /product="myotubularin-related protein 11 isoform X4"
                     /calculated_mol_wt=42440
     CDS             1..382
                     /gene="MTMR11"
                     /gene_synonym="CRA"
                     /coded_by="XM_054333950.1:233..1381"
                     /db_xref="GeneID:10903"
                     /db_xref="HGNC:HGNC:24307"
ORIGIN      
        1 mwwggrgqsf niapqkeepe mgsvqenrmp eprsrqpssc lasrclpgeq ilawapgvrk
       61 glepelsgtl ictnfrvtfq pcgwqwnqdt plnseydfal vnigrleavs glsrvqllrp
      121 gslhkfipee ilihgrdfrl lrvgfeaggl epqafqvtva ivqaraqsnq aqqysgitls
      181 kagqgsgsrk ppiplmetae dweterkkqa argwrvstvn erfdvatslp ryfwvpnril
      241 dsevrrafgh fhqgrgprls whhpggsdll rcggfytasd pnkedirave lmlqaghsdv
      301 vlvdtmdelp sladvqlahl rlralclpds svaedkwlsa legtrwldyv raclrkasdi
      361 svlvtsrvrs vilqgsgvsp lp
//
LOCUS       XP_054192074            1494 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C1orf167 isoform X3 [Homo sapiens].
ACCESSION   XP_054192074
VERSION     XP_054192074.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336099.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1494
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1494
                     /product="uncharacterized protein C1orf167 isoform X3"
                     /calculated_mol_wt=165326
     CDS             1..1494
                     /gene="C1orf167"
                     /coded_by="XM_054336099.1:140..4624"
                     /db_xref="GeneID:284498"
                     /db_xref="HGNC:HGNC:25262"
ORIGIN      
        1 mkrrlsgvrt rqnkgdqlgg grahlikqtr pltvewtkdt pvpepmelrs dashkenvsp
       61 kpaalpkpeq rrfrrslgig lsgrhdqwvp gcqverggpa atpspgavld qepcrvqtnl
      121 aspgprlgla lkdttgqlvn ssfwqqsnlq slarrrqgka refaiqqsnl sinetssphl
      181 cpepggssgp hklpwgplls qeplarpssc lrqsglpapg tpsgdfrpte afapldghtq
      241 pglrswgglg swrsrlvgep ltledlavps qnqtqapsra avhqllasvh claqeaarlr
      301 cqapqeppga vqqdlwtggg qpfsahpqps qpvlassdgr rrrlrghret aafletpasl
      361 sdswaqsklm spettlgtrt kdslnpeqgl ppahplgsgd scspwsqdgr aqrgdpslpr
      421 gvgsrgtdpc ssafsntawg vspkqkgeeg aprervhree ertafhlsdt vpassasknk
      481 aqnitapese aicwqllsrc frswrhlvkr qrepaaaava lgrwqllrkc lqalwlreaq
      541 leaawgqytk vllvrsfrew rnlalqqkqv qphmqagpgs ppsrraqgkg lslgrstvvd
      601 paqrsrleht spgslreeei aqrllshprq rtdsrhervq ilqalqlavf flwcqqkkra
      661 rqeretlrka tratqrtgsf pqawhstaag vawvaplshq hqrawlcrcf gawqqfvqrg
      721 sryrdhladr rtgtlrkcle qwvrmkqlre sdgakvtqls lcrqkagrea vytagpgacg
      781 lgavgqaqgq qeqgrgslqd acwtlalcwa lllwkmrlfq rqwansffqg lqqrmlqrsl
      841 rwwhlralgp datssctktp saleplssst lqdslekvpr aptlpdtlqg sllwaagqrq
      901 qgqclllwqa raqqfqgtar wyqhtrqrri flswsrwata qwawrelash rawdrtcrav
      961 lglwrqqllq srlverwaqe rgwrlardal chwhscwqgq qflhekcqtw vqvhlqglqk
     1021 vvfrswqqaa ahqrctvtrp eqlllqsyfq awcevvrdtg vlraqhqafq dglrrralga
     1081 vfatwreaqe vaagaqeqrv aqaslarwrs cgqqgqedgq qkkarapqaf pawpvapgmh
     1141 heaqqqages agaqaaqcwt wcwalwvhes crgqvsraha swkprawvle asvqsavrgg
     1201 vqrailtqlr paelrrflrt vqlrvrlglp gagktrscwt qatelvppap slqcslggrr
     1261 kprgtawaqr crehslcpaf qlwpqwpgqs swvpglplwt rdqgprahss peprackaqs
     1321 kahkrrlrar scrilekqaq ahgsalllal kghdalghqe evpaapvprg tasraagfpa
     1381 gqvpgsgmaa lggcprgraa gadpaqgvap emgladvvaa dpatasgsav taagrwafkk
     1441 whqrlaarsp rrgaassprp wskpgpkgpe sgqeaagapr gwglgaehga qlql
//
LOCUS       XP_054194033             474 aa            linear   PRI 20-MAR-2023
DEFINITION  vasculin-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054194033
VERSION     XP_054194033.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338058.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..474
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..474
                     /product="vasculin-like protein 1 isoform X1"
                     /calculated_mol_wt=52171
     CDS             1..474
                     /gene="GPBP1L1"
                     /gene_synonym="SP192"
                     /coded_by="XM_054338058.1:1686..3110"
                     /db_xref="GeneID:60313"
                     /db_xref="HGNC:HGNC:28843"
ORIGIN      
        1 maqhdfvpaw lnfstpqsak sptatfekhg ehlprgegrf gvsrrrhnss dgffnngplr
       61 tagdswhqps lfrhdsvdsg vskgayagit gnpsgwhsss rghdgmsqrs gggtgnhrhw
      121 ngsfhsrkgc afqekppmei reekkedkve klqfeeedfp slnpeagkqh qpcrpigtps
      181 gvwenppsak qpskmlvikk vskedpaaaf saaftspgsh hangnklssv vpsvyknlvp
      241 kpvpppskpn awkanrmehk sgslsssres aftspisvtk pvvlasgaal sspkespsst
      301 tppieisssr ltkltrrttd rkseflktlk ddrngdfsen rdcdkledle dnstpepken
      361 geegchqngl alpvveegev lshsleaehr llkamgwqey pendenclpl tedelkefhm
      421 kteqlrrngf gkngflqsrs sslfspwrst ckaefedsdt etsssetsdd dawk
//
LOCUS       XP_054195573             172 aa            linear   PRI 20-MAR-2023
DEFINITION  T-cell surface glycoprotein CD3 zeta chain isoform X1 [Homo
            sapiens].
ACCESSION   XP_054195573
VERSION     XP_054195573.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339598.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..172
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..172
                     /product="T-cell surface glycoprotein CD3 zeta chain
                     isoform X1"
                     /calculated_mol_wt=19595
     CDS             1..172
                     /gene="CD247"
                     /gene_synonym="CD3-ZETA; CD3H; CD3Q; CD3Z; CD3ZETA; IMD25;
                     T3Z; TCRZ"
                     /coded_by="XM_054339598.1:186..704"
                     /db_xref="GeneID:919"
                     /db_xref="HGNC:HGNC:1677"
                     /db_xref="MIM:186780"
ORIGIN      
        1 mvrswekglh slvrtpltts edqqvfeeaq sfglldpklc ylldgilfiy gviltalflr
       61 vkfsrsadap ayqqgqnqly nelnlgrree ydvldkrrgr dpemggkpqr rknpqeglyn
      121 elqkdkmaea yseigmkger rrgkghdgly qglstatkdt ydalhmqalp pr
//
LOCUS       XP_054226178             589 aa            linear   PRI 20-MAR-2023
DEFINITION  kin of IRRE-like protein 3 isoform X6 [Homo sapiens].
ACCESSION   XP_054226178
VERSION     XP_054226178.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370203.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..589
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..589
                     /product="kin of IRRE-like protein 3 isoform X6"
                     /calculated_mol_wt=64384
     CDS             1..589
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /coded_by="XM_054370203.1:3975..5744"
                     /db_xref="GeneID:84623"
                     /db_xref="HGNC:HGNC:23204"
                     /db_xref="MIM:607761"
ORIGIN      
        1 mntqrqkqtl lrdgkresiv stlfispgdv engqsivcra tnkaipggke tsvtidiqhp
       61 plvnlsvepq pvlednvvtf hcsakanpav tqyrwakrgq iikeasgevy rttvdytyfs
      121 epvscevtna lgstnlsrtv dvyfgprmtt epqsllvdlg sdaifscawt gnpsltivwm
      181 krgsgvvlsn ektltlksvr qedagkyvcr avvprvgage revtltvngp piisstqtqh
      241 alhgekgqik cfirstpppd riawswkenv lesgtsgryt vetisteegv istltisniv
      301 radfqtiync tawnsfgsdt eiirlkeqgs emksgaglea esvpmaviig vavgagvafl
      361 vlmativafc carsqrnlkg vvsakndirv eivhkepasg regeehstik qlmmdrgefq
      421 qdsvlkqlev lkeeekefqn lkdptngyys vntfkehhst ptislsscqp dlrpagkqrv
      481 ptgmsftniy stlsgqgrly dygqrfvlgm gsssielcer efqrgslsds ssfldtqcds
      541 svsssgkqdg yvqfdkaska sassshhsqs ssqnsdpsrp lqrrmqthv
//
LOCUS       XP_054228248             854 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-dependent 6-phosphofructokinase, muscle type isoform X6 [Homo
            sapiens].
ACCESSION   XP_054228248
VERSION     XP_054228248.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372273.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..854
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..854
                     /product="ATP-dependent 6-phosphofructokinase, muscle type
                     isoform X6"
                     /calculated_mol_wt=93149
     CDS             1..854
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /coded_by="XM_054372273.1:125..2689"
                     /db_xref="GeneID:5213"
                     /db_xref="HGNC:HGNC:8877"
                     /db_xref="MIM:610681"
ORIGIN      
        1 mrrgfrpgae rktrepprtg taftapeesl ageastssml ipkpppktdi lksldtmddp
       61 dtvgsipvfk tewimtheeh haaktlgigk aiavltsggd aqgmnaavra vvrvgiftga
      121 rvffvhegyq glvdggdhik eatwesvsmm lqlggtvigs arckdfrere grlraaynlv
      181 krgitnlcvi ggdgsltgad tfrsewsdll sdlqkagkit deeatkssyl nivglvgsid
      241 ndfcgtdmti gtdsalhrim eivdaittta qshqrtfvle vmgrhcgyla lvtslscgad
      301 wvfipecppd ddweehlcrr lsetrtrgsr lniiivaega idkngkpits ediknlvvkr
      361 lgydtrvtvl ghvqrggtps afdrilgsrm gveavmalle gtpdtpacvv slsgnqavrl
      421 plmecvqvtk dvtkamdekk fdealklrgr sfmnnwevyk llahvrppvs ksgshtvavm
      481 nvgapaagmn aavrstvrig liqgnrvlvv hdgfeglakg qieeagwsyv ggwtgqggsk
      541 lgtkrtlpkk sfeqisanit kfniqglvii ggfeaytggl elmegrkqfd elcipfvvip
      601 atvsnnvpgs dfsvgadtal nticttcdri kqsaagtkrr vfiietmggy cgylatmagl
      661 aagadaayif eepftirdlq anvehlvqkm kttvkrglvl rnekcnenyt tdfifnlyse
      721 egkgifdsrk nvlghmqqgg sptpfdrnfa tkmgakamnw msgkikesyr ngrifantpd
      781 sgcvlgmrkr alvfqpvael kdqtdfehri pkeqwwlklr pilkilakye idldtsdhah
      841 lehitrkrsg eaav
//
LOCUS       XP_054228916            2641 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase WNK1 isoform X8 [Homo sapiens].
ACCESSION   XP_054228916
VERSION     XP_054228916.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372941.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2641
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2641
                     /product="serine/threonine-protein kinase WNK1 isoform X8"
                     /calculated_mol_wt=279435
     CDS             1..2641
                     /gene="WNK1"
                     /gene_synonym="HSAN2; HSN2; KDP; p65; PPP1R167; PRKWNK1;
                     PSK"
                     /coded_by="XM_054372941.1:988..8913"
                     /db_xref="GeneID:65125"
                     /db_xref="HGNC:HGNC:14540"
                     /db_xref="MIM:605232"
ORIGIN      
        1 msggaaekqs stpgslflsp papapkngss sdssvgeklg aaaadavtgr teeyrrrrht
       61 mdkdsrgaaa tttttehrff rrsvicdsna talelpglpl slpqpsipaa vpqsappeph
      121 reetvtatat sqvaqqppaa aapgeqavag papstvpsst skdrpvsqps lvgskeeppp
      181 arsgsgggsa kepqeersqq qddieeletk avgmsndgrf lkfdieigrg sfktvykgld
      241 tettvevawc elqdrkltks erqrfkeeae mlkglqhpni vrfydswest vkgkkcivlv
      301 telmtsgtlk tylkrfkvmk ikvlrswcrq ilkglqflht rtppiihrdl kcdnifitgp
      361 tgsvkigdlg latlkrasfa ksvigtpefm apemyeekyd esvdvyafgm cmlematsey
      421 pysecqnaaq iyrrvtsgvk pasfdkvaip evkeiiegci rqnkderysi kdllnhaffq
      481 eetgvrvela eeddgekiai klwlriedik klkgkykdne aiefsfdler dvpedvaqem
      541 vesgyvcegd hktmakaikd rvslikrkre qrqlvreeqe kkkqeesslk qqveqssasq
      601 tgikqlpsas tgiptastts asvstqvepe epeadqhqql qyqqpsisvl sdgtvdsgqg
      661 ssvftesrvs sqqtvsygsq heqahstgtv pghipstvqa qsqphgvypp ssvpqsmahp
      721 cggtptypes qiffptiher pvsfsppptc ppkvaisqrr kstsfleaqt hhfqpllrtv
      781 gqsllppggs ptnwtpeavv mlgttasrvt gesceiqvhp mfepsqvysd yrpglvlpee
      841 ahyfipqeav yvagvhyqar vaeqyegipy nssvlsspmk qipeqkpvqg gptsssvfef
      901 psgqaflvgh lqnlrldsgl gpgsplssis apistdatrl kfhpvfvphs apavlthnne
      961 srsncvfefh vhtpssssge gggilpqrvy rnrqvavdln qeelppqsvg lhgylqpvte
     1021 ekhnyhapel tvsvvepigq nwpigspeys sdssqitssd psdfqspppt ggaaapfgsd
     1081 vsmpfihlpq tvlqesplff cfpqgttsqq vltasfssgg salhpqaqgq sqgqpssssl
     1141 tgvsssqpiq hpqqqgiqqt appqqtvqys lsqtstssea ttaqpvsqpq apqvlpqvsa
     1201 gkqgfpprlp pqypgdsnia pssnvasvci hstvlsppmp tevlatpgyf ptvvqpyves
     1261 nllvpmggvg gqvqvsqpgg slaqapttss qqavlestqg vsqvapaepv avaqpqatqp
     1321 ttlassvdsa hsdvasgmsd gnenvpsssg rhegrttkrh yrksvrsrsr hektsrpklr
     1381 ilnvsnkgdr vvecqlethn rkmvtfkfdl dgdnpeeiat imvnndfila ieresfvdqv
     1441 reiiekadem lsedvsvepe gdqgleslqg kddygfsgsq klegefkqpi passmpqqig
     1501 iptssltqvv hsagrrfivs pvpesrlres kvfpseitdt vaastaqspg mnlshsassl
     1561 slqqafselr raqmtegpnt appnfshtgp tfpvvppfls siagvpttaa atapvpatss
     1621 ppndistsvi qsevtvptee giagvatstg vvtsgglpip pvsespvlss vvssitipav
     1681 vsisttspsl qvptstseiv vsstalypsv tvsatsasag gstatpgpkp pavvsqqaag
     1741 sttvgatlts vstttsfpst asqlsiqlss ststptlaet vvvsahsldk tshssttgla
     1801 fslsapssss spgagvssyi sqpgglhplv ipsviastpi lpqaagptst pllpqvpsip
     1861 plvqpvanvp avqqtlihsq pqpallpnqp hthcpevdsd tqpkapgidd iktleeklrs
     1921 lfsehsssga qhasvslets lviestvtpg ipttavapsk lltsttstcl pptnlplgtv
     1981 alpvtpvvtp gqvstpvstt tsgvkpgtap skppltkapv lpvgtelpag tlpseqlppf
     2041 pgpsltqsqq pledldaqlr rtlspemitv tsavgpvsma aptaiteagt qpqkgvsqvk
     2101 egpvlatssg agvfkmgrfq vsvaadgaqk egknksedak svhfesstse ssvlsssspe
     2161 stlvkpepng itipgissdv pesahkttas eaksdtgqpt kvgrfqvttt ankvgrfsvs
     2221 ktedkitdtk kegpvasppf mdleqavlpa vipkkekpel sepshlngps sdpeaaflsr
     2281 dvddgsgsph sphqlssksl psqnlsqsls nsfnssymss dnesdieded lklelrrlrd
     2341 khlkeiqdlq srqkheiesl ytklgkvppa viippaapls grrrrptksk gskssrsssl
     2401 gnkspqlsgn lsgqsaasvl hpqqtlhppg nipesgqnql lqplkpspss dnlysaftsd
     2461 gaisvpslsa pgqgtsstnt vgatvnsqaa qaqppamtss rkgtftddlh klvdnwarda
     2521 mnlsgrrgsk ghmnyegpgm arkfsapgql cismtsnlgg sapisaasat slghftksmc
     2581 ppqqygfpat pfgaqwsgtg gpapqplgqf qpvgtaslqn fnisnlqksi snppgsnlrt
     2641 t
//
LOCUS       XP_054229547             455 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 30 isoform X8 [Homo sapiens].
ACCESSION   XP_054229547
VERSION     XP_054229547.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373572.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..455
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..455
                     /product="ubiquitin carboxyl-terminal hydrolase 30 isoform
                     X8"
                     /calculated_mol_wt=51385
     CDS             1..455
                     /gene="USP30"
                     /coded_by="XM_054373572.1:104..1471"
                     /db_xref="GeneID:84749"
                     /db_xref="HGNC:HGNC:20065"
                     /db_xref="MIM:612492"
ORIGIN      
        1 mlssraeaam taadraiqrf lrtgaavryk vmknwgvigg iaaalaagiy viwgpiterk
       61 krrkalscqe vtddevldas clldvlrmyr wqissfeeqd ahelfhvits slederdrqp
      121 rvthlfdvhs leqseitpkq itcrtrgsph ptsnhwksqh pfhgrltsnm vckhcehqsp
      181 vrfdtfdsls lsipaatwgh pltldhclhh fissesvrdv vcdnctkiea kgtlngekve
      241 hqrttfvkql klgklpqclc ihlqrlswss hgtplkrheh vqfneflmmd iykyhllghk
      301 psqhnpklnk npgptlelqd gpgaptpvln qpgapktqif mngacspsll ptlsapmpfp
      361 lpvvpdysss tylfrlmavv vhhgdmhsgh fvtyrrspps arnplstsnq wlwvsddtvr
      421 kaslqevlss sayllfyerv lsrmqhqsqe cksee
//
LOCUS       XP_054230003             442 aa            linear   PRI 20-MAR-2023
DEFINITION  progesterone-induced-blocking factor 1 isoform X12 [Homo sapiens].
ACCESSION   XP_054230003
VERSION     XP_054230003.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374028.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..442
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..442
                     /product="progesterone-induced-blocking factor 1 isoform
                     X12"
                     /calculated_mol_wt=52763
     CDS             1..442
                     /gene="PIBF1"
                     /gene_synonym="C13orf24; CEP90; JBTS33; PIBF"
                     /coded_by="XM_054374028.1:265..1593"
                     /db_xref="GeneID:10464"
                     /db_xref="HGNC:HGNC:23352"
                     /db_xref="MIM:607532"
ORIGIN      
        1 msrkiskesk kvnisssles edislettvp tddissseer egkvritrql ierkellhni
       61 qllkielsqk tmmidnlkvd yltkieelee klndalhqkq lltlrldnql afqqkdasky
      121 qelmkqemet illrqkqlee tnlqlrekag dvrrnlrdfe lteeqyiklk afpedqlsip
      181 eyvsvrfyel vnplrkeice lqvkknilae elstnknqlk qltetyeedr knysevqirc
      241 qrlaleladt kqliqqgdyr qenydkvkse rdaleqevie lrrkheilea shmiqtkers
      301 elskevvtle qtvtllqkdk eylnrqnmel svrcaheedr lerlqaqlee skkareemye
      361 kyvasrdhyk teyenklhde leqirlktnq eidqlrnasr emyerenrnl reardnavae
      421 keravmaekd alekhdqlld rf
//
LOCUS       XP_054231104             717 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 7 isoform X13 [Homo
            sapiens].
ACCESSION   XP_054231104
VERSION     XP_054231104.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375129.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..717
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..717
                     /product="rho guanine nucleotide exchange factor 7 isoform
                     X13"
                     /calculated_mol_wt=81058
     CDS             1..717
                     /gene="ARHGEF7"
                     /gene_synonym="BETA-PIX; COOL-1; COOL1; Nbla10314; P50;
                     P50BP; P85; P85COOL1; P85SPR; PAK3; PIXB"
                     /coded_by="XM_054375129.1:1130..3283"
                     /db_xref="GeneID:8874"
                     /db_xref="HGNC:HGNC:15607"
                     /db_xref="MIM:605477"
ORIGIN      
        1 mtdnsnnqlv vrakfnfqqt nedelsfskg dvihvtrvee ggwwegtlng rtgwfpsnyv
       61 revkasekpv spksgtlksp pkgfdttain ksyynvvlqn ileteneysk elqtvlstyl
      121 rplqtsekls sanisylmgn leeicsfqqm lvqsleectk lpeaqqrvgg cflnlmpqmk
      181 tlyltycanh psavnvlteh seelgefmet kgasspgilv lttglskpfm rldkyptllk
      241 elerhmedyh tdrqdiqksm aafknlsaqc qevrkrkele lqilteairn wegddiktlg
      301 nvtymsqvli qcagseekne rylllfpnvl lmlsasprms gfiyqgklpt tgmtitkled
      361 senhrnafei sgsmierilv scnnqqdlqe wvehlqkqtk vtsvgnptik phsvpshtlp
      421 shpvtpsskh adskpapltp ayhtlphpsh hgtphttinw gpleppktpk pwslsclrpa
      481 pplrpsaalc ykevrsldhs nsqmtdlsks pktmkkllpk rkperkpsde efasrkstaa
      541 leedaqilkv ieayctsakt rqtlnstwqg tdlmhnhvla dddqpsldsl grrsslsrle
      601 psdlsedsdy dsiwtahsyr mgstsrsrke sapqvllpee ekiiveetks ngqtvieeks
      661 lvdtvyalkd evqelrqdnk kmkksleeeq rarkdleklv rkvlknmndp awdetnl
//
LOCUS       XP_054169917             653 aa            linear   PRI 20-MAR-2023
DEFINITION  GATOR complex protein WDR59 isoform X8 [Homo sapiens].
ACCESSION   XP_054169917
VERSION     XP_054169917.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313942.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..653
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..653
                     /product="GATOR complex protein WDR59 isoform X8"
                     /calculated_mol_wt=72786
     CDS             1..653
                     /gene="WDR59"
                     /gene_synonym="CDW12; FP977; p90-120"
                     /coded_by="XM_054313942.1:127..2088"
                     /db_xref="GeneID:79726"
                     /db_xref="HGNC:HGNC:25706"
                     /db_xref="MIM:617418"
ORIGIN      
        1 mvlmsslrvf pfcrnlrrpc tlkiqitstl qamgrkkvic qtdvsalked pprnlleerk
       61 sdqlglpqtl qqefslinvq irnvnvemda adrsctvsvh csnhrvkmlv kfpaqypnna
      121 apsfqfinpt titstmkakl lkilkdtalq kvkrgqscle pclrqlvscl esfvnqedsa
      181 ssnpfalpns vtpplptfar vttaygsyqd anipfprtsg arfcgagylv yftrpmtmhr
      241 avspteptpr slsalsayht gliapmkirt eapgnlrlys gsptrsekeq vsissfyyke
      301 rksrrwkskr egsdsgnrqi kaagkviiqd iacllpvhks lgelyilnvn diqetcqkna
      361 asallvgrkd lvqvwslatv atdlclgpks dpdletpwar hpfgrqlles llahycrlrd
      421 vqtlamlcsv feaqsrpqgl pnpfgpfpnr ssnlvvshsr ypsftssgsc ssmsdpglnt
      481 ggwniagrea ehlsspwges speelrfgsl tysdprerer dqhdknkrll dpantqqfdd
      541 fkkcygeily rwglrekrae vlkfvscppd phkgiefgvy cshcrsevrg tqcaickgft
      601 fqcaichvav rgssnfcltc ghgghtshmm ewfrtqevcp tgcgchclle stf
//
LOCUS       XP_054170882             834 aa            linear   PRI 20-MAR-2023
DEFINITION  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3
            isoform X1 [Homo sapiens].
ACCESSION   XP_054170882
VERSION     XP_054170882.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314907.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..834
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..834
                     /product="1-phosphatidylinositol 4,5-bisphosphate
                     phosphodiesterase delta-3 isoform X1"
                     /calculated_mol_wt=94140
     CDS             1..834
                     /gene="PLCD3"
                     /gene_synonym="PLC-delta-3"
                     /coded_by="XM_054314907.1:106..2610"
                     /db_xref="GeneID:113026"
                     /db_xref="HGNC:HGNC:9061"
                     /db_xref="MIM:608795"
ORIGIN      
        1 mlcgrwrrcr rppeeppvaa qvaaqvaapv alpspptpsd ggtkrpglra lkkmgltede
       61 dvramlrgsr lrkirsrtwh kerlyrlqed glsvwfqrri prapsqhiff vqhieavreg
      121 hqseglrrfg gafaparclt iafkgrrknl dlaaptaeea qrwvrgltkl rarldamsqr
      181 erldhwihsy lhradsnqds kmsfkeiksl lrmvnvdmnd myayllfkec dhsnndrleg
      241 aeieeflrrl lkrpeleeif hqysgedrvl sapellefle dqgeegatla raqqliqtye
      301 lnetakqhel mtldgfmmyl lspegaaldn thtcvfqdmn qplahyfiss shntyltdsq
      361 iggpssteay vrafaqgcrc veldcwegpg gepviyhght ltskilfrdv vqavrdhaft
      421 lspypvilsl enhcgleqqa amarhlctil gdmlvtqald spnpeelpsp eqlkgrvlvk
      481 gkklpaarse dgralsdree eeeddeeeee eveaaaqrrl akqispelsa lavychatrl
      541 rtlhpapnap qpcqvsslse rkakklirea gqkrvrsggr vtwgrawalf pggyrpglwv
      601 rdprslsrsh pnsapgnsfv rhnarqltrv yplglrmnsa nyspqemwns gcqlvalnfq
      661 tpgyemdlna grflvngqcg yvlkpaclrq pdstfdpeyp gpprttlsiq vltaqqlpkl
      721 naekphsivd plvrieihgv padcarqetd yvlnngfnpr wgqtlqfqlr apelalvrfv
      781 vedydatspn dfvgqftlpl sslkqgyrhi hllskdgasl spatlfiqir iqrs
//
LOCUS       XP_054174481             189 aa            linear   PRI 20-MAR-2023
DEFINITION  tubulin polyglutamylase complex subunit 2 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054174481
VERSION     XP_054174481.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318506.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..189
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..189
                     /product="tubulin polyglutamylase complex subunit 2
                     isoform X4"
                     /calculated_mol_wt=21285
     CDS             1..189
                     /gene="TPGS2"
                     /gene_synonym="C18orf10; HMFN0601; L17; PGs2"
                     /coded_by="XM_054318506.1:236..805"
                     /db_xref="GeneID:25941"
                     /db_xref="HGNC:HGNC:24561"
ORIGIN      
        1 meeeasspgl gcskphlekl tlgitriles spgvtevtii ekppaerhmi ssweqknncv
       61 mpedvknfyl mtngfhmtws vkldasddqp ekphfdsrsv ifeldscngs gkvclvyksg
      121 kpalaedtei wfldralywh fltdtftayy rllithlglp qwqyaftsyg ispqakpkgs
      181 egrskrgcf
//
LOCUS       XP_054177932             803 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 43 isoform X1 [Homo sapiens].
ACCESSION   XP_054177932
VERSION     XP_054177932.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321957.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..803
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..803
                     /product="zinc finger protein 43 isoform X1"
                     /calculated_mol_wt=93347
     CDS             1..803
                     /gene="ZNF43"
                     /gene_synonym="HTF6; KOX27; ZNF39L1"
                     /coded_by="XM_054321957.1:5855..8266"
                     /db_xref="GeneID:7594"
                     /db_xref="HGNC:HGNC:13109"
                     /db_xref="MIM:603972"
ORIGIN      
        1 mdvaiefcle ewqcldiaqq nlyrnvmlen yrnlvflgia vskpdlitcl eqekepwepm
       61 rrhemvakpp vmcshftqdf wpeqhikdpf qkatlrrykn cehknvhlkk dhksvdeckv
      121 hrggyngfnq clpatqskif lfdkcvkafh kfsnsnrhki shtekklfkc kecgksfcml
      181 phlaqhkiih trvnfckcek cgkafncpsi itkhkrintg ekpytceecg kvfnwssrlt
      241 thkknytryk lykceecgka fnkssiltth kiirtgekfy kckecakafn qssnltehkk
      301 ihpgekpykc eecgkafnwp stltkhkrih tgekpytcee cgkafnqfsn ltthkrihta
      361 ekfykctecg eafsrssnlt khkkihtekk pykceecgka fkwssklteh klthtgekpy
      421 kceecgkafn wpstltkhnr ihtgekpykc evcgkafnqf snltthkrih taekpykcee
      481 cgkafsrssn ltkhkkihie kkpykceecg kafkwssklt ehkithtgek pykceecgka
      541 fnhfsiltkh krihtgekpy kceecgkaft qssnltthkk ihtgekfykc eecgkaftqs
      601 snltthkkih tggkpykcee cgkafnqfst ltkhkiihte ekpykceecg kafkwsstlt
      661 khkiihtgek pykceecgka fklsstlsth kiihtgekpy kcekcgkafn rssnliehkk
      721 ihtgeqpykc eecgkafnys shlnthkrih tkeqpykcke cgkafnqysn ltthnkihtg
      781 eklykpedvt vilttpqtfs nik
//
LOCUS       XP_054197647             193 aa            linear   PRI 20-MAR-2023
DEFINITION  hippocalcin-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054197647
VERSION     XP_054197647.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341672.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..193
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..193
                     /product="hippocalcin-like protein 1 isoform X1"
                     /calculated_mol_wt=22182
     CDS             1..193
                     /gene="HPCAL1"
                     /gene_synonym="BDR1; HLP2; VILIP-3"
                     /coded_by="XM_054341672.1:522..1103"
                     /db_xref="GeneID:3241"
                     /db_xref="HGNC:HGNC:5145"
                     /db_xref="MIM:600207"
ORIGIN      
        1 mgkqnsklrp evlqdlrent eftdhelqew ykgflkdcpt ghltvdefkk iyanffpygd
       61 askfaehvfr tfdtngdgti dfrefiials vtsrgkleqk lkwafsmydl dgngyisrse
      121 mleivqaiyk mvssvmkmpe destpekrtd kifrqmdtnn dgklsleefi rgaksdpsiv
      181 rllqcdpssa sqf
//
LOCUS       XP_054197707             990 aa            linear   PRI 20-MAR-2023
DEFINITION  CRACD-like protein isoform X2 [Homo sapiens].
ACCESSION   XP_054197707
VERSION     XP_054197707.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341732.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..990
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..990
                     /product="CRACD-like protein isoform X2"
                     /calculated_mol_wt=105345
     CDS             1..990
                     /gene="CRACDL"
                     /gene_synonym="C2orf55; KIAA1211L"
                     /coded_by="XM_054341732.1:647..3619"
                     /db_xref="GeneID:343990"
                     /db_xref="HGNC:HGNC:33454"
ORIGIN      
        1 mreleahstl rrmaafyqci rpdpseldmi strvmdiklr eaaeglgeds tgkkkskfkt
       61 fkkffgkkkr kespsstgss twkqsqtrne viaiesgpvg ydsedelees rgtlgsrals
      121 hdsifipesg qdatrpvrvf sqenvcdrik alqlkiqcnv kmgpppppgg lpakrgedag
      181 msseddglpr sppemsllhd vgpgttikvs vvspdhvsds tvsarisdns lapvadfsyp
      241 aessscldns aakhklqvkp rnqrsskmrr lssraqsesl sdltctpeee eneekpllev
      301 speerpssgq qdvapdrgpe pgppaplppp ggararrarl qhssaltasv eeggvpgedp
      361 ssrpatpela epesaptlrv eppsppegpp npgpdggkqd geappagpca patdkaeevv
      421 capedvaspf ptaipegdtt ppetdpaats eapsardgpe rsvpkeaept ppvlpdeekg
      481 ppgpapeper eaeteperga gteperigte pstapapspp apksclkhrp aaasegpaas
      541 pplaaaespp vepgpgslda eaaaperpka eraeappaga eraaperkae rggaelrgak
      601 kfsvsscrar prpgvsrple rasgrlplar sgpvwrseaa lddlqglpep qhakpgprkl
      661 aergpqdsgd raaspagprk spqeaaaapg trepcpaaqe papsedrnpf pvklrstsls
      721 lkyrdgasqe vkgvkrysae vrlersltvl pkeekcplgt apalrgtrap sdqgkgkarp
      781 peplsskppl prkpllqsft lphqpappda gpgereprke prtaekrplr rgaekslppa
      841 atgpgadgqp appwitvtrq krrgtldqpp nqedkpgart lksepgkqak vpergqepvk
      901 qadfvrsksf litpvkpavd rkqgaklnfk eglqrgisls hqnlaqsavm mekelhqlkr
      961 asyastdqps wmelarkksq awsdmpqiik
//
LOCUS       XP_054198318             851 aa            linear   PRI 20-MAR-2023
DEFINITION  anoctamin-7 isoform X11 [Homo sapiens].
ACCESSION   XP_054198318
VERSION     XP_054198318.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342343.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..851
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..851
                     /product="anoctamin-7 isoform X11"
                     /calculated_mol_wt=95755
     CDS             1..851
                     /gene="ANO7"
                     /gene_synonym="D-TMPP; DTMPP; IPCA-5; IPCA5; NGEP;
                     PCANAP5; PCANAP5L; TMEM16G"
                     /coded_by="XM_054342343.1:53..2608"
                     /db_xref="GeneID:50636"
                     /db_xref="HGNC:HGNC:31677"
                     /db_xref="MIM:605096"
ORIGIN      
        1 mtsetssgsh carsrmlrrr aqeedstvli dvsppeaekr gsygstahas epggqqaaac
       61 ragspakpri adfvlvweed lkldrqqdsa ardrtdmhrt wretfldnlr aaglcvdqal
      121 tepwvptagr pgrehhsalr ppqrllgcal llrrrpapea alagvtqpgl qlvgrpagma
      181 ghpqrpaggc arrtprvlll pvqseqaatl ppnllhcsha hsflgsdnqd tfftstkrhq
      241 ilfeilaktp yghekknllg ihqllaegvl saafplhdgp fktppegpqa prlnqrqvlf
      301 qhwarwgkwn kyqpldhvrr yfgekvalyf awlgfytgwl lpaavvgtlv flvgcflvfs
      361 diptqelcgs kdsfemcplc ldcpfwllss acalaqvree agrlfdhggt vffslfmalw
      421 avllleywkr ksatlayrwd csdyedteer prpqfaasap mtapnpitge depyfpersr
      481 arrmlagsvv ivvmvavvvm clvsiilyra imaivvsrsg ntllaawasr iasltgsvvn
      541 lvfililski yvslahvltr wemhrtqtkf edaftlkvfi fqfvnfyssp vyiaffkgrf
      601 vgypgnyhtl fgvrneecaa ggclielaqe llvimvgkqv innmqevlip klkgwwqkfr
      661 lrskkrkaga sagasqgpwe ddyelvpceg lfdeylemvl qfgfvtifva acplaplfal
      721 lnnwveirld arkfvceyrr pvaertqdig iwfhilaglt hlavisnafl lafssdflpr
      781 ayyrwtrahd lrgflnftla rapssfaaah nrtcryrafr dddghysqty wnllairlaf
      841 vivfeslwrs k
//
LOCUS       XP_054200274            1554 aa            linear   PRI 20-MAR-2023
DEFINITION  protein TANC1 isoform X33 [Homo sapiens].
ACCESSION   XP_054200274
VERSION     XP_054200274.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344299.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1554
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1554
                     /product="protein TANC1 isoform X33"
                     /calculated_mol_wt=169988
     CDS             1..1554
                     /gene="TANC1"
                     /gene_synonym="ROLSB; TANC"
                     /coded_by="XM_054344299.1:5213..9877"
                     /db_xref="GeneID:85461"
                     /db_xref="HGNC:HGNC:29364"
                     /db_xref="MIM:611397"
ORIGIN      
        1 mprpnsvaat sstkledlsy ldgqrnaplr tsirlpwhnt aggraqevka rfapykpqdi
       61 llkpllfevp sittdsvfvg rdwlfhqiee nlrntelaen rgavvvgnvg fgktaiiskl
      121 valschgsrm rqiasnspgs spktsdptqd lhftpllsps sstsasstak tplgsisaen
      181 qrpredavky laskvvayhy cqadntytcl vpefvhsiaa llcrshqlaa yrdllikepq
      241 lqsmlslrsc vqdpvaafkr gvlepltnlr neqkipeeey iilidglnea efhkpdygdt
      301 lssfitkiis kfpawlkliv tvranfqeii salpfvklsl ddfpdnkdih sdlhayvqhr
      361 vhssqdilsn islngkadat ligkvsshlv lrslgsylyl kltldlfqrg hlviksasyk
      421 vvpvslsely llqcnmkfmt qsaferalpi lnvalaslhp mtdeqifqai naghiqgeqg
      481 wedfqqrmda lscflikrrd ktrmfchpsf rewlvwradg entaflcepr nghallafmf
      541 srqegklnrq qtmelghhil kahifkglsk ktgissshlq alwigysteg lsaalaslrn
      601 lytpnvkvsr llilgganvn yrtevlnnap ilcvqshlgh eevvtlllef gacldgtsen
      661 gmtalcyaaa aghmklvcll tkkgvrvdhl dkkgqcalvh salrghgdil qylltcewsp
      721 gppqpgtlrk shalqqalta aasmghssvv qcllgmekeh evevngtdtl wgetaltaaa
      781 grgklevcel llghgaavsr tnrrgvpplf caarqghwqi vrlllergcd vnlsdkqgrt
      841 plmvaacegh lstvefllsk gaalssldke glsalswacl kghravvqyl veegaaidqt
      901 dkngrtpldl aafygdaetv lylvekgavi ehvdhsgmrp ldraigcrnt svvvallrkg
      961 aklgnaawam atskpdilii llqklmeegn vmykkgkmke aaqryqyalr kfpregfged
     1021 mrpfnelrvs lylnlsrcrr ktndfgmaee faskalelkp ksyeafyara rakrnsrqfv
     1081 aaladlqeav klcptnqevk rllarveeec kqlqrsqqqk qqgplpapln dseneedtpt
     1141 pglsdhfhse eteeeetspq eesvsptprs qpsssvpssy irnlqeglqs kgrpvspqsr
     1201 agigkslrep vaqpglllqp skqaqivkts qhlgsgqsav rngsmkvqis sqnpppspmp
     1261 griaaapags rtqhlegtgt fttragcghf gdrlgpsqnv rlqcgengpa hplpsktktt
     1321 erllshssva vdaappnqgg latcsdvrhp asltssgssg spsssikmss stssltssss
     1381 fsdgfkvqgp dtrikdkvvt hvqsgtaehr prntpfmgim dktarfqqqs nppsrswhcp
     1441 apeglltnts saaglqsant ekpslmqvgg ynnqaktcsv stlsasvhng aqvkeleesk
     1501 cqipvhsqen ritktvshly qesiskqqph isneahrshl taakpkrsfi esnv
//
LOCUS       XP_054180011             237 aa            linear   PRI 20-MAR-2023
DEFINITION  kinetochore-associated protein DSN1 homolog isoform X2 [Homo
            sapiens].
ACCESSION   XP_054180011
VERSION     XP_054180011.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324036.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..237
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..237
                     /product="kinetochore-associated protein DSN1 homolog
                     isoform X2"
                     /calculated_mol_wt=26566
     CDS             1..237
                     /gene="DSN1"
                     /gene_synonym="C20orf172; dJ469A13.2; hKNL-3; KNL3; MIS13"
                     /coded_by="XM_054324036.1:118..831"
                     /db_xref="GeneID:79980"
                     /db_xref="HGNC:HGNC:16165"
                     /db_xref="MIM:609175"
ORIGIN      
        1 mtsvtrseii delsrsisvd laeskrlgcl llssfqfsiq klepflrdtk gfslesfrak
       61 dgletdgtlq kcfedsngka sdfsleasva emkeyitkfs lerqtwdqll lhyqqeakei
      121 lsrgsteaki tevkvepmty lgssqnevln tkpdyqkilq nqskvfdcme lvmdelqgsv
      181 kqlqafmdes tqcfqkvsvq lgkrsmqqld psparkllkl qlqnppaihg sgsgscq
//
LOCUS       XP_054181015             567 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase Chk2 isoform X4 [Homo sapiens].
ACCESSION   XP_054181015
VERSION     XP_054181015.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325040.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..567
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..567
                     /product="serine/threonine-protein kinase Chk2 isoform X4"
                     /calculated_mol_wt=63044
     CDS             1..567
                     /gene="CHEK2"
                     /gene_synonym="CDS1; CHK2; hCds1; HuCds1; LFS2; PP1425;
                     RAD53"
                     /coded_by="XM_054325040.1:64..1767"
                     /db_xref="GeneID:11200"
                     /db_xref="HGNC:HGNC:16627"
                     /db_xref="MIM:604373"
ORIGIN      
        1 mlrlltsmvv msresdveaq qshgssacsq phgsvtqsqg sssqsqgiss sststmpnss
       61 qsshsssgtl ssletvstqe lysipedqep edqepeeptp apwarlwalq dgfanletes
      121 ghvtqsdlel llssdppasa sqsagirgvr hhprpvcslk cvndnywfgr dksceycfde
      181 pllkrtdkyr tyskkhfrif revgpknsyi ayiedhsgng tfvntelvgk gkrrplnnns
      241 eialslsrnk vfvffdltvd dqsvypkalr deyimsktlg sgacgevkla ferktckkva
      301 ikiiskrkfa igsareadpa lnveteieil kklnhpciik iknffdaedy yivlelmegg
      361 elfdkvvgnk rlkeatckly fyqmllavqi tdfghskilg etslmrtlcg tptylapevl
      421 vsvgtagynr avdcwslgvi lficlsgypp fsehrtqvsl kdqitsgkyn fipevwaevs
      481 ekaldlvkkl lvvdpkarft teealrhpwl qdedmkrkfq dllseenest alpqvlaqps
      541 tsrkrprege aegaettkrp avcaavl
//
LOCUS       XP_054181572             493 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 188 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054181572
VERSION     XP_054181572.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325597.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..493
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..493
                     /product="coiled-coil domain-containing protein 188
                     isoform X1"
                     /calculated_mol_wt=52269
     CDS             1..493
                     /gene="CCDC188"
                     /coded_by="XM_054325597.1:1724..3205"
                     /db_xref="GeneID:388849"
                     /db_xref="HGNC:HGNC:51899"
ORIGIN      
        1 meglktlgpc ghphpqcppt passshgggl dqpcqgfvgw pclgpissah svqsqrpfpv
       61 pgaggsgptv egeapglfls sqeqrardte gprqgdleag lgwgwplhpg snqgaprqgg
      121 sigsgtrpcp cpplsregga lasprvalsq lqcgllgsae qsflqleqen hslkrqnqel
      181 reqlgallgp gqqflplcpe hssctalawp pdpagtqplg nraplqllrr elcqgqeafv
      241 qqsqvglgeg lwggrklrns tpggpegfir egglravgqw aqrggtghpa daaqahpgph
      301 pqnelqqirl cferkkmvit evwdnvaemh malnnqatgl lnlkkdirgv ldqmediqle
      361 ilreraqcrt rarkekqmas msaadpeaaa grpagldrcl rvrgephtfr gagatpaepc
      421 hrleapgpag plpapqsgrl pallgqrpsg pskearrpal prmpsgrasp lhmaplctil
      481 arscregwrw gls
//
LOCUS       XP_054202960             405 aa            linear   PRI 20-MAR-2023
DEFINITION  SID1 transmembrane family member 1 isoform X17 [Homo sapiens].
ACCESSION   XP_054202960
VERSION     XP_054202960.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346985.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..405
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..405
                     /product="SID1 transmembrane family member 1 isoform X17"
                     /calculated_mol_wt=46437
     CDS             1..405
                     /gene="SIDT1"
                     /gene_synonym="SID-1; SID1"
                     /coded_by="XM_054346985.1:675..1892"
                     /db_xref="GeneID:54847"
                     /db_xref="HGNC:HGNC:25967"
                     /db_xref="MIM:606816"
ORIGIN      
        1 mqergednwr nknhiisfwn iitiavfyal pviqlvityq tvvnvtgnqd icyynflcah
       61 plgvlsafnn ilsnlghvll gflfllivlr rdilhrrale akdifaveyg ipkhfglfya
      121 mgialmmegv lsacyhvcpn ysnfqfdtsf mymiaglcml klyqtrhpdi nasacsayas
      181 favvimvtvl gvvfgkndvw fwvifsaihv laslalstqi yymgrfkidv sdtdlgifrr
      241 aamvfytdci qqcsrplymd rmvllvvgnl vnwsfalfgl iyrprdfasy mlgificnll
      301 lylafyiimk lrssekvlpv plfcivatav mwaaalyfff qnlsswegtp aesreknrec
      361 illdffddhd iwhflsatal ffsflvlltl dddldvvrrd qipvf
//
LOCUS       XP_054206326             774 aa            linear   PRI 20-MAR-2023
DEFINITION  la-related protein 1B isoform X26 [Homo sapiens].
ACCESSION   XP_054206326
VERSION     XP_054206326.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350351.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..774
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..774
                     /product="la-related protein 1B isoform X26"
                     /calculated_mol_wt=86869
     CDS             1..774
                     /gene="LARP1B"
                     /gene_synonym="LARP2"
                     /coded_by="XM_054350351.1:408..2732"
                     /db_xref="GeneID:55132"
                     /db_xref="HGNC:HGNC:24704"
ORIGIN      
        1 mstrapmpaa hsredppavt aeresllaaa nrpaeqpppp ecegkeaare eraaaatsag
       61 argepspalv lgrsvpqaav pvrplalhla hkargpggpf ggeppppppp psplppllrd
      121 ppaedareev aagpaekrqp pllppkgnpw tkkppqhlsp dttgpppppl etleaefgsl
      181 kiikagklkt kksnkasdfs dmenwptpse lvntgfqsvl sqgnkkpqnr kekeekvekr
      241 snsdskenre tklngpgenv sedeaqssnq rkrankhkwv plhldvvrse sqerpgsrns
      301 srcqpeankp thnnrrndtr swkrdrekrd dqddvssvrs eggnirgsfr grgrgrgrgr
      361 grgrgnprln fdysygyqeh gertdqpfqt elntsmmyyy ddgtgvqvyp veeallkeyi
      421 krqieyyfsv enlerdfflr gkmdeqgflp isliagfqrv qalttnlnli lealkdstev
      481 eivdekmrkk iepekwpipg ppprsvpptd fsqlidcpef vpgqafcsht esapnsprig
      541 splspkknse tsilqamsrg lstslpdlds epwievkkrh qpapvklres vsvpegslnq
      601 lcsseepeqe eldflfdeei eqigrkntft dwsdndsdye iddqdlnkil ivtqtppyvk
      661 khpggdrtgt hmsrakitse lakvindgly yyeqdlwmee denkhtaikq evenfkklnl
      721 iskeqfenlt pelpfepnqe vpvapsqsrq eecwrhkmsw rcsrsashsq erfd
//
LOCUS       XP_054209309             215 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor 7 isoform X18 [Homo sapiens].
ACCESSION   XP_054209309
VERSION     XP_054209309.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353334.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..215
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..215
                     /product="transcription factor 7 isoform X18"
                     /calculated_mol_wt=21917
     CDS             1..215
                     /gene="TCF7"
                     /gene_synonym="TCF-1"
                     /coded_by="XM_054353334.1:227..874"
                     /db_xref="GeneID:6932"
                     /db_xref="HGNC:HGNC:11639"
                     /db_xref="MIM:189908"
ORIGIN      
        1 mpqldsgggg agggddlgap dellafqdeg eeqddksrds aagperdlae lksslvnese
       61 gaaggagipg vpgagagarg eaealgreha aqrlfpdklp epledglkap ectsgmyket
      121 vysafnllmh ypppsgagqh pqpqpplvsg prsqcrpvla asltstrpis pptvspnsls
      181 tnistahipp lhlrtsarsk ftglcrplts lastp
//
LOCUS       XP_054209631             327 aa            linear   PRI 20-MAR-2023
DEFINITION  cotranscriptional regulator FAM172A isoform X14 [Homo sapiens].
ACCESSION   XP_054209631
VERSION     XP_054209631.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353656.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..327
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..327
                     /product="cotranscriptional regulator FAM172A isoform X14"
                     /calculated_mol_wt=37638
     CDS             1..327
                     /gene="FAM172A"
                     /gene_synonym="C5orf21; Toupee"
                     /coded_by="XM_054353656.1:222..1205"
                     /db_xref="GeneID:83989"
                     /db_xref="HGNC:HGNC:25365"
ORIGIN      
        1 mkkdeppldf pdtlegfeya fnekgqlrhi ktgepfvfny redlhrwnqk ryealgeiit
       61 kyvyellekd cnlkkvsipv datesepksf ifmsedaltn pqklmvlihg sgvvragqwa
      121 rrliinedld sgtqipfikr avaegygviv lnpnenyiev ekpkihvqss sdssdepaek
      181 rerkdkvske tkkrrdfyek yrnpqrekem mqlyirengs peehaiyvwd hfiaqaaaen
      241 vffvahsygg lafvelmiqr eadvknkvta valtdsvhnv whqeagktir ewmrenccnw
      301 vsssepldts vesmlpdcpr vsaacsl
//
LOCUS       XP_054210905             299 aa            linear   PRI 20-MAR-2023
DEFINITION  NAD-dependent protein deacylase sirtuin-5, mitochondrial isoform X2
            [Homo sapiens].
ACCESSION   XP_054210905
VERSION     XP_054210905.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354930.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..299
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..299
                     /product="NAD-dependent protein deacylase sirtuin-5,
                     mitochondrial isoform X2"
                     /calculated_mol_wt=32543
     CDS             1..299
                     /gene="SIRT5"
                     /gene_synonym="SIR2L5"
                     /coded_by="XM_054354930.1:401..1300"
                     /db_xref="GeneID:23408"
                     /db_xref="HGNC:HGNC:14933"
                     /db_xref="MIM:604483"
ORIGIN      
        1 mrplqivpsr lisqlycglk ppastrnqic lkmarpsssm adfrkffaka khiviisgag
       61 vsaesgvptf rgaggywrkw qaqdlatpla fahnpsrvwe fyhyrrevmg skepnaghra
      121 iaecetrlgk qgrrvvvitq nidelhrkag tknlleihgs lfktrctscg vvaenykspi
      181 cpalsgkgap epgtqdasip veklprceea gcggllrphv vwfgenldpa ileevdrela
      241 hcdlclvvgt ssvvypaamf apqvaargvp vaefntettp atnrfshlis issliiikn
//
LOCUS       XP_054213376             726 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 800 isoform X1 [Homo sapiens].
ACCESSION   XP_054213376
VERSION     XP_054213376.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357401.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..726
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..726
                     /product="zinc finger protein 800 isoform X1"
                     /calculated_mol_wt=81191
     CDS             1..726
                     /gene="ZNF800"
                     /coded_by="XM_054357401.1:2706..4886"
                     /db_xref="GeneID:168850"
                     /db_xref="HGNC:HGNC:27267"
ORIGIN      
        1 mplrdkycqt dhhhhgccep vyilepgdpp llqqplqtsk sgiqqiiecf rsgtkqlkhi
       61 llkdvdtife cklcrslfrg lpnlithkkf ycppslqmdd nlpdvndkqs qaindlleai
      121 ypsvdkreyi iklepietnq navfqyisrt dnpievtess stpeqtevqi qetsteqskt
      181 vpvtdtevet vepppveivt devaptsdeq pqesqadlet sdnsdfghql icclcrkefn
      241 srrgvrrhir kvhkkkmeel kkyietrknp nqsskgrskn vlvplsrscp vccksfatka
      301 nvrrhfdevh rglrrdsitp diatkpgqpl fldsispkks fktrkqksss kaeynltack
      361 cllckrkyss qimlkrhmqi vhkitlsgtn skrekgpnnt ansseikvkv epadsvessp
      421 psithspqne lkgtnhsnek kntpaaqknk vkqdsespks tspsaaggqq ktrkpklsag
      481 fdfkqlyckl ckrqftskqn ltkhielhtd gnniyvkfyk cplctyetrr krdvirhitv
      541 vhkkssrylg kitasleira ikkpidfvln kvakrgpsrd eakhsdskhd gtsnspskky
      601 evadvgievk vtknfslhrc nkcgkafakk tylehhkkth kanasnspeg nktkgrstrs
      661 kalvclakps srsaaalrpa apgsrclpag avttrqaaas craklrggaa relqhaargl
      721 gkpaap
//
LOCUS       XP_054213842             414 aa            linear   PRI 20-MAR-2023
DEFINITION  transducin beta-like protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054213842
VERSION     XP_054213842.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357867.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..414
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..414
                     /product="transducin beta-like protein 2 isoform X1"
                     /calculated_mol_wt=46217
     CDS             1..414
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
                     /coded_by="XM_054357867.1:304..1548"
                     /db_xref="GeneID:26608"
                     /db_xref="HGNC:HGNC:11586"
                     /db_xref="MIM:605842"
ORIGIN      
        1 mltshprvls gqkangfppd kssgskkqkq yqrirkekpq qhnfthrlla aalkshsgni
       61 scmdfssngk ylatcaddrt iriwstkdfl qrehrsmran veldhatlvr fspdcrafiv
      121 wlangdtlrv fkmtkredgg ytftatpedf pkkhkapvid igiantgkfi mtassdttvl
      181 iwslkgqvls tintnqmnnt haavspcgrf vascgftpdv kvwevcfgkk gefqevvraf
      241 elkghsaavh sfafsndsrr masvskdgtw klwdtdveyk kkqdpyllkt grfeeaagaa
      301 pcrlalspna qvlalasgss ihlyntrrge keecfervhg ecianlsfdi tgrflascgd
      361 ravrlfhntp ghramveemq ghlkrasnes trqrlqqqlt qaqetlkslg alkk
//
LOCUS       XP_054214094             291 aa            linear   PRI 20-MAR-2023
DEFINITION  insulin-like growth factor-binding protein 3 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054214094
VERSION     XP_054214094.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358119.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..291
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..291
                     /product="insulin-like growth factor-binding protein 3
                     isoform X1"
                     /calculated_mol_wt=31529
     CDS             1..291
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /coded_by="XM_054358119.1:133..1008"
                     /db_xref="GeneID:3486"
                     /db_xref="HGNC:HGNC:5472"
                     /db_xref="MIM:146732"
ORIGIN      
        1 mqrarptlwa aaltllvllr gppvaragas sgglgpvvrc epcdaralaq capppavcae
       61 lvrepgcgcc ltcalsegqp cgiytercgs glrcqpspde arplqalldg rglcvnasav
      121 srlrayllpa ppapgnases eedrsagsve spsvssthrv sdpkfhplhs kiiiikkgha
      181 kdsqrykvdy esqstdtqnf sseskretey gpcrremedt lnhlkflnvl sprgvhipnc
      241 dkkgfykkkq crpskgrkrg fcwcvdkygq plpgyttkgk edvhcysmqs k
//
LOCUS       XP_054183592            1603 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase WNK3 isoform X5 [Homo sapiens].
ACCESSION   XP_054183592
VERSION     XP_054183592.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327617.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1603
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1603
                     /product="serine/threonine-protein kinase WNK3 isoform X5"
                     /calculated_mol_wt=177026
     CDS             1..1603
                     /gene="WNK3"
                     /gene_synonym="PRKWNK3"
                     /coded_by="XM_054327617.1:338..5149"
                     /db_xref="GeneID:65267"
                     /db_xref="HGNC:HGNC:14543"
                     /db_xref="MIM:300358"
ORIGIN      
        1 matdsgdpas tedsekpdgi sfenrvpqva atltvearlk eknstfsasg etverkrffr
       61 ksvemteddk vaesspkder ikaamniprv dklpsnvlrg gqevkyeqcs kstseiskdc
      121 fkeknekeme eeaemkavat spsgrflkfd ielgrgafkt vykgldtetw vevawcelqd
      181 rkltkaeqqr fkeeaemlkg lqhpnivrfy dswesilkgk kcivlvtelm tsgtlktylk
      241 rfkvmkpkvl rswcrqilkg lqflhtrtpp iihrdlkcdn ifitgptgsv kigdlglatl
      301 mrtsfaksvi gtpefmapem yeehydesvd vyafgmcmle matseypyse cqnaaqiyrk
      361 vtsgikpasf nkvtdpevke iiegcirqnk serlsirdll nhaffaedtg lrvelaeedd
      421 csnsslalrl wvedpkklkg khkdneaief sfnletdtpe evayemvksg ffhesdskav
      481 aksirdrvtp ikktrekkpa gcleerrdsq cksmgnvfpq pqnttlplap aqqtgaecee
      541 tevdqhvrqq llqrkpqqhc ssvtgdnlse agaasvihsd tssqpsvays snqtmgsqmv
      601 snipqaevnv pgqiyssqql vghyqqvsgl qkhskltqpq ilplvqgqst vlpvhvlgpt
      661 vvsqpqvspl tvqkvpqikp vsqpvgaeqq aallkpdlvr slnqdvattk envsspdnps
      721 gngkqdrikq rrascprpek gtkfqltvlq vstsgdnmve cqlethnnkm vtfkfdvdgd
      781 apediadymv ednfvlesek ekfveelrai vgqaqeilhv hfateratgv dsitvdsnss
      841 qtgsseqvqi nststqtsne sapqsspvgr wrfcinqtir nretqsppsl qhsmsavpgr
      901 hplpspknts nkeisrdtll tiennpchra lftsksehkd vvdgkiseca svetkqpail
      961 yqvednrqim apvtnsssys ttsvravpae cegltkqasi fipvypchqt asqadalmsh
     1021 pgestqtsgn slttlafdqk pqtlsvqqpa mdaefisqeg ettvnteass pktviptqtp
     1081 glepttlqpt tvlesdgerp pklefadnri ktldeklrnl lyqehsissi ypesqkdtqs
     1141 idspfsssae dtlscpvtev iaishcgikd spvqspnfqq tgskllsnva asqpanisvf
     1201 krdlnvitsv pselclhems sdaslpgdpe aypaavssgg aihlqtgvet eemrsaiapd
     1261 pipltresta dtralnrcka msgsfqrgrf qvitipqqqs akmtsfgieh isvfsetnhs
     1321 seeafiktak sqlveiepat qnpktsfsye klqalqetck enkgvpkqgd nflsfsaace
     1381 tdvssvtpek efeetsatgs smqsgselll kereiltagk qpssdsefsa slagsgksva
     1441 ktgpesnqcl phheeqayaq tqsslfysps spmssddese iededlkvel qrlrekhiqe
     1501 vvnlqtqqnk elqelyerlr sikdsktqst eiplppaspr rprsfksklr srpqslthvd
     1561 ngivatgksc linelenlpa lfweakaggl leprswrpaw atk
//
LOCUS       NP_001074015             115 aa            linear   PRI 02-APR-2023
DEFINITION  transmembrane protein 218 isoform 2 [Homo sapiens].
ACCESSION   NP_001074015 XP_938983
VERSION     NP_001074015.1
DBSOURCE    REFSEQ: accession NM_001080546.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 115)
  AUTHORS   Epting D, Decker E, Ott E, Eisenberger T, Bader I, Bachmann N and
            Bergmann C.
  TITLE     The ciliary transition zone protein TMEM218 synergistically
            interacts with the NPHP module and its reduced dosage leads to a
            wide range of syndromic ciliopathies
  JOURNAL   Hum Mol Genet 31 (14), 2295-2306 (2022)
   PUBMED   35137054
REFERENCE   2  (residues 1 to 115)
  AUTHORS   Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg
            D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E,
            Klaver CCW, Houlden H, Eslahi A, Waters AM, Bamshad MJ, Nickerson
            DA, Aggarwal VS, de Vries BBA, Maroofian R and Doherty D.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     TMEM218 dysfunction causes ciliopathies, including Joubert and
            Meckel syndromes
  JOURNAL   HGG Adv 2 (1) (2021)
   PUBMED   33791682
REFERENCE   3  (residues 1 to 115)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 115)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 115)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (residues 1 to 115)
  AUTHORS   Li C, Jensen VL, Park K, Kennedy J, Garcia-Gonzalo FR, Romani M, De
            Mori R, Bruel AL, Gaillard D, Doray B, Lopez E, Riviere JB, Faivre
            L, Thauvin-Robinet C, Reiter JF, Blacque OE, Valente EM and Leroux
            MR.
  TITLE     MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary
            Transition Zone
  JOURNAL   PLoS Biol 14 (3), e1002416 (2016)
   PUBMED   26982032
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AA459752.1, DB194956.1, BC132716.1, BC144277.1, CX870447.1,
            AP001007.5, BX094574.1 and AA781367.1.
            On Jan 18, 2007 this sequence version replaced XP_938983.1.
            
            Transcript Variant: This variant (8) differs in the 5' UTR compared
            to variant 1. Variants 1-11 and 19-37 all encode the same isoform
            (2).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.8944.1, BC144277.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2155371
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..115
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     Protein         1..115
                     /product="transmembrane protein 218 isoform 2"
                     /calculated_mol_wt=12328
     Site            5..25
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (A2RU14.1)"
     Site            38..58
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (A2RU14.1)"
     Site            81..101
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (A2RU14.1)"
     CDS             1..115
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /coded_by="NM_001080546.3:372..719"
                     /note="isoform 2 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS31715.1"
                     /db_xref="GeneID:219854"
                     /db_xref="HGNC:HGNC:27344"
                     /db_xref="MIM:619285"
ORIGIN      
        1 magtvlgvga gvfilallwv avlllcvlls rasgaarfsv iflffgavii tsvlllfpra
       61 gefpapevev kivddffigr yvllaflsai flgglflvli hyvlepiyak plhsy
//
LOCUS       NP_996823                195 aa            linear   PRI 03-APR-2023
DEFINITION  membrane-spanning 4-domains subfamily A member 7 isoform 2 [Homo
            sapiens].
ACCESSION   NP_996823
VERSION     NP_996823.1
DBSOURCE    REFSEQ: accession NM_206940.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 195)
  AUTHORS   Ni B, Huang G, Yang R, Wang Z, Song H, Li K, Zhang Y, Wu K, Shi G,
            Wang X, Shen J and Liu Y.
  TITLE     The short isoform of MS4A7 is a novel player in glioblastoma
            microenvironment, M2 macrophage polarization, and tumor progression
  JOURNAL   J Neuroinflammation 20 (1), 80 (2023)
   PUBMED   36944954
  REMARK    GeneRIF: The short isoform of MS4A7 is a novel player in
            glioblastoma microenvironment, M2 macrophage polarization, and
            tumor progression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 195)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 195)
  AUTHORS   Zuccolo J, Deng L, Unruh TL, Sanyal R, Bau JA, Storek J, Demetrick
            DJ, Luider JM, Auer-Grzesiak IA, Mansoor A and Deans JP.
  TITLE     Expression of MS4A and TMEM176 Genes in Human B Lymphocytes
  JOURNAL   Front Immunol 4, 195 (2013)
   PUBMED   23874341
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 195)
  AUTHORS   Gingras MC, Lapillonne H and Margolin JF.
  TITLE     CFFM4: a new member of the CD20/FcepsilonRIbeta family
  JOURNAL   Immunogenetics 53 (6), 468-476 (2001)
   PUBMED   11685457
REFERENCE   5  (residues 1 to 195)
  AUTHORS   Liang Y, Buckley TR, Tu L, Langdon SD and Tedder TF.
  TITLE     Structural organization of the human MS4A gene cluster on
            Chromosome 11q12
  JOURNAL   Immunogenetics 53 (5), 357-368 (2001)
   PUBMED   11486273
REFERENCE   6  (residues 1 to 195)
  AUTHORS   Liang Y and Tedder TF.
  TITLE     Identification of a CD20-, FcepsilonRIbeta-, and HTm4-related gene
            family: sixteen new MS4A family members expressed in human and
            mouse
  JOURNAL   Genomics 72 (2), 119-127 (2001)
   PUBMED   11401424
REFERENCE   7  (residues 1 to 195)
  AUTHORS   Ishibashi K, Suzuki M, Sasaki S and Imai M.
  TITLE     Identification of a new multigene four-transmembrane family (MS4A)
            related to CD20, HTm4 and beta subunit of the high-affinity IgE
            receptor
  JOURNAL   Gene 264 (1), 87-93 (2001)
   PUBMED   11245982
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD706728.1, AK075106.1,
            CD518120.1, AV685115.2, AV690480.2 and CA449361.1.
            
            Summary: This gene encodes a member of the membrane-spanning 4A
            gene family, members of which are characterized by common
            structural features and similar intron/exon splice boundaries and
            display unique expression patterns in hematopoietic cells and
            nonlymphoid tissues. This family member is associated with mature
            cellular function in the monocytic lineage, and it may be a
            component of a receptor complex involved in signal transduction.
            This gene is localized to 11q12, in a cluster of other family
            members. At least four alternatively spliced transcript variants
            encoding two distinct isoforms have been observed. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (4) uses an alternate splice site
            for the first exon and lacks an in-frame coding exon compared to
            variant 1. The resulting isoform (2) lacks an internal region, as
            compared to isoform 1. Variants 4 and 2 encode the same isoform
            (2).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.72234.1,
                                           SRR1660803.273019.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..195
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.2"
     Protein         1..195
                     /product="membrane-spanning 4-domains subfamily A member 7
                     isoform 2"
                     /note="four-span transmembrane protein 2; high affinity
                     immunoglobulin epsilon receptor beta subunit;
                     CD20/Fc-epsilon-RI-beta family member 4; membrane-spanning
                     4-domains subfamily A member 7; CD20 antigen-like 4"
                     /calculated_mol_wt=21273
     Region          <50..162
                     /region_name="CD20"
                     /note="CD20-like family; pfam04103"
                     /db_xref="CDD:427713"
     CDS             1..195
                     /gene="MS4A7"
                     /gene_synonym="4SPAN2; CD20L4; CFFM4; MS4A8"
                     /coded_by="NM_206940.2:99..686"
                     /note="isoform 2 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS7986.1"
                     /db_xref="GeneID:58475"
                     /db_xref="HGNC:HGNC:13378"
                     /db_xref="MIM:606502"
ORIGIN      
        1 mllqsqtmgv shsftpkgit ipqrekpghm yqnedylqng lptettvlgf gitgslsiis
       61 gkqstkpfdl ssltsnavss vtagaglfll adsmvalrta sqhcgsemdy lsslpyseyy
      121 ypiyeikdcl ltsvsltgvl vvmliftvle lllaayssvf wwkqlysnnp gssfsstqsq
      181 dhiqqvkkss srswi
//
LOCUS       NP_001366602             690 aa            linear   PRI 03-APR-2023
DEFINITION  guanylate cyclase soluble subunit alpha-1 isoform A [Homo sapiens].
ACCESSION   NP_001366602
VERSION     NP_001366602.1
DBSOURCE    REFSEQ: accession NM_001379673.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 690)
  AUTHORS   Guey S, Herve D, Kossorotoff M, Ha G, Aloui C, Bergametti F,
            Arnould M, Guenou H, Hadjadj J, Dubois Teklali F, Riant F,
            Balligand JL, Uzan G, Villoutreix BO and Tournier-Lasserve E.
  TITLE     Biallelic variants in NOS3 and GUCY1A3, the two major genes of the
            nitric oxide pathway, cause moyamoya cerebral angiopathy
  JOURNAL   Hum Genomics 17 (1), 24 (2023)
   PUBMED   36941667
  REMARK    GeneRIF: Biallelic variants in NOS3 and GUCY1A3, the two major
            genes of the nitric oxide pathway, cause moyamoya cerebral
            angiopathy.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 690)
  AUTHORS   Liu R, Kang Y and Chen L.
  TITLE     Activation mechanism of human soluble guanylate cyclase by
            stimulators and activators
  JOURNAL   Nat Commun 12 (1), 5492 (2021)
   PUBMED   34535643
  REMARK    GeneRIF: Activation mechanism of human soluble guanylate cyclase by
            stimulators and activators.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 690)
  AUTHORS   Sharina I, Lezgyieva K, Krutsenko Y and Martin E.
  TITLE     Higher susceptibility to heme oxidation and lower protein stability
            of the rare alpha1C517Ybeta1 sGC variant associated with moyamoya
            syndrome
  JOURNAL   Biochem Pharmacol 186, 114459 (2021)
   PUBMED   33571505
  REMARK    GeneRIF: Higher susceptibility to heme oxidation and lower protein
            stability of the rare alpha1C517Ybeta1 sGC variant associated with
            moyamoya syndrome.
REFERENCE   4  (residues 1 to 690)
  AUTHORS   Korkmaz Y, Puladi B, Galler K, Kammerer PW, Schroder A, Golz L,
            Sparwasser T, Bloch W, Friebe A and Deschner J.
  TITLE     Inflammation in the Human Periodontium Induces Downregulation of
            the alpha1- and beta1-Subunits of the sGC in Cementoclasts
  JOURNAL   Int J Mol Sci 22 (2), 539 (2021)
   PUBMED   33430449
  REMARK    GeneRIF: Inflammation in the Human Periodontium Induces
            Downregulation of the alpha1- and beta1-Subunits of the sGC in
            Cementoclasts.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 690)
  AUTHORS   Li JL, Liu LY, Jiang DD, Jiang YY, Zhou GQ, Mo DC and Luo M.
  TITLE     Associations between GUCY1A3 genetic polymorphisms and large artery
            atherosclerotic stroke risk in Chinese Han population: a
            case-control study
  JOURNAL   Lipids Health Dis 18 (1), 233 (2019)
   PUBMED   31883534
  REMARK    GeneRIF: Our results indicate that the GUCY1A3 rs1842896
            polymorphism is an large artery atherosclerotic (LAA) stroke risk
            factor in Southern Han Chinese.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 690)
  AUTHORS   Zhou Y, Zheng JB, Gu X, Li W and Saunders GF.
  TITLE     A novel Pax-6 binding site in rodent B1 repetitive elements:
            coevolution between developmental regulation and repeated elements?
  JOURNAL   Gene 245 (2), 319-328 (2000)
   PUBMED   10717483
REFERENCE   7  (residues 1 to 690)
  AUTHORS   Zabel U, Weeger M, La M and Schmidt HH.
  TITLE     Human soluble guanylate cyclase: functional expression and revised
            isoenzyme family
  JOURNAL   Biochem J 335 (Pt 1) (Pt 1), 51-57 (1998)
   PUBMED   9742212
REFERENCE   8  (residues 1 to 690)
  AUTHORS   Papapetropoulos A, Cziraki A, Rubin JW, Stone CD and Catravas JD.
  TITLE     cGMP accumulation and gene expression of soluble guanylate cyclase
            in human vascular tissue
  JOURNAL   J Cell Physiol 167 (2), 213-221 (1996)
   PUBMED   8613461
REFERENCE   9  (residues 1 to 690)
  AUTHORS   Giuili G, Roechel N, Scholl U, Mattei MG and Guellaen G.
  TITLE     Colocalization of the genes coding for the alpha 3 and beta 3
            subunits of soluble guanylyl cyclase to human chromosome 4 at
            q31.3-q33
  JOURNAL   Hum Genet 91 (3), 257-260 (1993)
   PUBMED   8097486
REFERENCE   10 (residues 1 to 690)
  AUTHORS   Giuili G, Scholl U, Bulle F and Guellaen G.
  TITLE     Molecular cloning of the cDNAs coding for the two subunits of
            soluble guanylyl cyclase from human brain
  JOURNAL   FEBS Lett 304 (1), 83-88 (1992)
   PUBMED   1352257
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104083.3.
            
            Summary: Soluble guanylate cyclases are heterodimeric proteins that
            catalyze the conversion of GTP to 3',5'-cyclic GMP and
            pyrophosphate. The protein encoded by this gene is an alpha subunit
            of this complex and it interacts with a beta subunit to form the
            guanylate cyclase enzyme, which is activated by nitric oxide.
            Several transcript variants encoding a few different isoforms have
            been found for this gene. [provided by RefSeq, Jan 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803617.101076.1, U58855.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1968189, SAMEA2142853 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..690
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.1"
     Protein         1..690
                     /product="guanylate cyclase soluble subunit alpha-1
                     isoform A"
                     /EC_number="4.6.1.2"
                     /note="soluble guanylate cyclase large subunit; guanylate
                     cyclase 1, soluble, alpha 3; guanylate cyclase soluble
                     subunit alpha-1"
                     /calculated_mol_wt=77322
     Site            267
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ERL9; propagated from
                     UniProtKB/Swiss-Prot (Q02108.2)"
     Region          277..466
                     /region_name="HNOBA"
                     /note="Heme NO binding associated; pfam07701"
                     /db_xref="CDD:429606"
     Region          472..643
                     /region_name="Guanylate_cyc"
                     /note="Adenylate and Guanylate cyclase catalytic domain;
                     pfam00211"
                     /db_xref="CDD:425528"
     Site            order(484,486..491,526,528..530,533,595..597,601..602,
                     605..606)
                     /site_type="active"
                     /note="nucleotidyl binding site [active]"
                     /db_xref="CDD:143636"
     Site            order(486,530)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:143636"
     Site            order(491,503,506..507,510,514,526..527,583,586,596..599,
                     602)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143636"
     CDS             1..690
                     /gene="GUCY1A1"
                     /gene_synonym="GC-S-alpha-1; GC-SA3; GCS-alpha-3; GUC1A3;
                     GUCA3; GUCSA3; GUCY1A3; MYMY6"
                     /coded_by="NM_001379673.1:633..2705"
                     /note="isoform A is encoded by transcript variant 16"
                     /db_xref="CCDS:CCDS34085.1"
                     /db_xref="GeneID:2982"
                     /db_xref="HGNC:HGNC:4685"
                     /db_xref="MIM:139396"
ORIGIN      
        1 mfctklkdlk itgecpfsll apgqvpness eeaagssesc katvpicqdi pekniqeslp
       61 qrktsrsrvy lhtlaesick lifpeferln valqrtlakh kikesrksle redfektiae
      121 qavaagvpve vikeslgeev fkicyeeden ilgvvggtlk dflnsfstll kqsshcqeag
      181 krgrledasi lcldkeddfl hvyyffpkrt tslilpgiik aaahvlyete vevslmppcf
      241 hndcsefvnq pyllysvhmk stkpslspsk pqsslvipts lfcktfpfhf mfdkdmtilq
      301 fgngirrlmn rrdfqgkpnf eeyfeiltpk inqtfsgimt mlnmqfvvrv rrwdnsvkks
      361 srvmdlkgqm iyivessail flgspcvdrl edftgrglyl sdipihnalr dvvligeqar
      421 aqdglkkrlg klkatleqah qaleeekkkt vdllcsifpc evaqqlwqgq vvqakkfsnv
      481 tmlfsdivgf taicsqcspl qvitmlnaly trfdqqcgel dvykvetigd aycvagglhk
      541 esdthavqia lmalkmmels devmsphgep ikmriglhsg svfagvvgvk mpryclfgnn
      601 vtlankfesc svprkinvsp ttyrllkdcp gfvftprsre elppnfpsei pgichflday
      661 qqgtnskpcf qkkdvedgna nflgkasgid
//
LOCUS       NP_001382988             323 aa            linear   PRI 29-OCT-2022
DEFINITION  olfactory receptor family 5 subfamily D member 3 pseudogene [Homo
            sapiens].
ACCESSION   NP_001382988
VERSION     NP_001382988.1
DBSOURCE    REFSEQ: accession NM_001396059.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 323)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (residues 1 to 323)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
REFERENCE   3  (residues 1 to 323)
  AUTHORS   Buettner JA, Glusman G, Ben-Arie N, Ramos P, Lancet D and Evans GA.
  TITLE     Organization and evolution of olfactory receptor genes on human
            chromosome 11
  JOURNAL   Genomics 53 (1), 56-68 (1998)
   PUBMED   9787077
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP006437.2.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000641440.1/ ENSP00000493820.1
            RefSeq Select criteria    :: based on single protein-coding
                                         transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q11"
     Protein         1..323
                     /product="olfactory receptor family 5 subfamily D member 3
                     pseudogene"
                     /note="olfactory receptor, family 5, subfamily D, member
                     4; olfactory receptor OR11-140"
                     /calculated_mol_wt=36376
     Region          21..314
                     /region_name="7tmA_OR5D-like"
                     /note="olfactory receptor subfamily 5D and related
                     proteins, member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15410"
                     /db_xref="CDD:320532"
     Region          35..61
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320532"
     Region          68..94
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320532"
     Site            order(90,93..94,106..111,113..114,117,162,164..168,204,
                     207..209,211..213,215..216,261,264..265,267..268,271,
                     277..278,280..282,285,288..289)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320532"
     Region          106..136
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320532"
     Region          149..170
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320532"
     Region          204..234
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320532"
     Region          241..271
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320532"
     Region          278..303
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320532"
     CDS             1..323
                     /gene="OR5D3P"
                     /gene_synonym="OR11-8b; OR11-8c; OR5D3; OR5D4"
                     /coded_by="NM_001396059.1:251..1222"
                     /db_xref="CCDS:CCDS91473.1"
                     /db_xref="GeneID:8594"
                     /db_xref="HGNC:HGNC:8336"
ORIGIN      
        1 mnhsdasvfr iqknqtagvt fillgfsefp dlqiplflvf ltiytitvmg nlgmimviri
       61 npklhtpmyf flshlsfvdf cysttitpkl lenlvvedri isftgcimqf ffacifvvte
      121 tfmlaamayd rfvavcnpll ytvamsqrlc sllvaasysw slvcsltyty flltlsfcrt
      181 nfinnfvceh aaivavscsd pymsqkvilv satfneissl viiltsyafi fitvmkmpst
      241 ggrkkafstc ashltaitif hgtilflycv pnsksswlmv kvasvfytvv ipmlnpliys
      301 lrnkdvketv rklvitkllc hkm
//
LOCUS       NP_001132989             302 aa            linear   PRI 09-DEC-2022
DEFINITION  interferon-inducible double-stranded RNA-dependent protein kinase
            activator A isoform 2 [Homo sapiens].
ACCESSION   NP_001132989
VERSION     NP_001132989.1
DBSOURCE    REFSEQ: accession NM_001139517.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 302)
  AUTHORS   Wei L, Wang W, Yao J, Cui Z, Xu Z, Ding H, Wu X, Wang D, Luo J and
            Ke ZJ.
  TITLE     PACT promotes the metastasis of basal-like breast cancer through
            Rac1 SUMOylation and activation
  JOURNAL   Oncogene 41 (37), 4282-4294 (2022)
   PUBMED   35974143
  REMARK    GeneRIF: PACT promotes the metastasis of basal-like breast cancer
            through Rac1 SUMOylation and activation.
REFERENCE   2  (residues 1 to 302)
  AUTHORS   Vaughn LS, Frederick K, Burnett SB, Sharma N, Bragg DC, Camargos S,
            Cardoso F and Patel RC.
  TITLE     DYT-PRKRA Mutation P222L Enhances PACT's Stimulatory Activity on
            Type I Interferon Induction
  JOURNAL   Biomolecules 12 (5), 713 (2022)
   PUBMED   35625640
  REMARK    GeneRIF: DYT-PRKRA Mutation P222L Enhances PACT's Stimulatory
            Activity on Type I Interferon Induction.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 302)
  AUTHORS   Zheng Y, Deng J, Han L, Zhuang MW, Xu Y, Zhang J, Nan ML, Xiao Y,
            Zhan P, Liu X, Gao C and Wang PH.
  TITLE     SARS-CoV-2 NSP5 and N protein counteract the RIG-I signaling
            pathway by suppressing the formation of stress granules
  JOURNAL   Signal Transduct Target Ther 7 (1), 22 (2022)
   PUBMED   35075101
  REMARK    GeneRIF: SARS-CoV-2 NSP5 and N protein counteract the RIG-I
            signaling pathway by suppressing the formation of stress granules.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 302)
  AUTHORS   Wang F, Zhu L, Xue Q, Tang C, Tang W, Zhang N, Dai C and Chen Z.
  TITLE     Novel lncRNA AL033381.2 Promotes Hepatocellular Carcinoma
            Progression by Upregulating PRKRA Expression
  JOURNAL   Oxid Med Cell Longev 2022, 1125932 (2022)
   PUBMED   35035655
  REMARK    GeneRIF: Novel lncRNA AL033381.2 Promotes Hepatocellular Carcinoma
            Progression by Upregulating PRKRA Expression.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 302)
  AUTHORS   Neault N, O'Reilly S, Baig AT, Plaza-Diaz J, Azimi M, Farooq F,
            Baird SD and MacKenzie A.
  TITLE     High-throughput kinome-RNAi screen identifies protein kinase R
            activator (PACT) as a novel genetic modifier of CUG foci integrity
            in myotonic dystrophy type 1 (DM1)
  JOURNAL   PLoS One 16 (9), e0256276 (2021)
   PUBMED   34520479
  REMARK    GeneRIF: High-throughput kinome-RNAi screen identifies protein
            kinase R activator (PACT) as a novel genetic modifier of CUG foci
            integrity in myotonic dystrophy type 1 (DM1).
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 302)
  AUTHORS   Horng T, Barton GM and Medzhitov R.
  TITLE     TIRAP: an adapter molecule in the Toll signaling pathway
  JOURNAL   Nat Immunol 2 (9), 835-841 (2001)
   PUBMED   11526399
REFERENCE   7  (residues 1 to 302)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   8  (residues 1 to 302)
  AUTHORS   Ito T, Yang M and May WS.
  TITLE     RAX, a cellular activator for double-stranded RNA-dependent protein
            kinase during stress signaling
  JOURNAL   J Biol Chem 274 (22), 15427-15432 (1999)
   PUBMED   10336432
REFERENCE   9  (residues 1 to 302)
  AUTHORS   Patel RC and Sen GC.
  TITLE     PACT, a protein activator of the interferon-induced protein kinase,
            PKR
  JOURNAL   EMBO J 17 (15), 4379-4390 (1998)
   PUBMED   9687506
REFERENCE   10 (residues 1 to 302)
  AUTHORS   Simons A, Melamed-Bessudo C, Wolkowicz R, Sperling J, Sperling R,
            Eisenbach L and Rotter V.
  TITLE     PACT: cloning and characterization of a cellular p53 binding
            protein that interacts with Rb
  JOURNAL   Oncogene 14 (2), 145-155 (1997)
   PUBMED   9010216
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL833867.1 and AC009948.3.
            
            Summary: This gene encodes a protein kinase activated by
            double-stranded RNA which mediates the effects of interferon in
            response to viral infection. Mutations in this gene have been
            associated with dystonia. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. This difference causes translation
            initiation at a downstream AUG and an isoform (2) with a shorter
            N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL833867.1, SRR1660807.14901.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..302
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.2"
     Protein         1..302
                     /product="interferon-inducible double-stranded
                     RNA-dependent protein kinase activator A isoform 2"
                     /note="protein activator of the interferon-induced protein
                     kinase; PKR-associated protein X; PKR-associating protein
                     X; interferon-inducible double-stranded RNA-dependent
                     protein kinase activator A; protein kinase,
                     interferon-inducible double-stranded RNA-dependent
                     activator"
                     /calculated_mol_wt=32992
     Region          21..91
                     /region_name="DSRM_PRKRA_rpt1"
                     /note="first double-stranded RNA binding motif of protein
                     activator of the interferon-induced protein kinase (PRKRA)
                     and similar proteins; cd19889"
                     /db_xref="CDD:380718"
     Site            order(22..23,25..26,29..30,33..34,41,49..51,53,55,71..74,
                     77)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:380718"
     Region          115..181
                     /region_name="DSRM_PRKRA_rpt2"
                     /note="second double-stranded RNA binding motif of protein
                     activator of the interferon-induced protein kinase (PRKRA)
                     and similar proteins; cd19891"
                     /db_xref="CDD:380720"
     Site            order(115,117..118,121,143..144,146,148,164..167,170)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:380720"
     Region          228..299
                     /region_name="DSRM_PRKRA_rpt3"
                     /note="third double-stranded RNA binding motif of protein
                     activator of the interferon-induced protein kinase (PRKRA)
                     and similar proteins; cd19892"
                     /db_xref="CDD:380721"
     Site            order(228..229,231..232,235..236,239..240,247,257..259,
                     261,263,278..281,284)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:380721"
     Site            order(241,252..254,260..262,264,266..268,270..272,
                     274..275,290,293..294,297..299)
                     /site_type="other"
                     /note="Dicer interface [polypeptide binding]"
                     /db_xref="CDD:380721"
     CDS             1..302
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /coded_by="NM_001139517.1:315..1223"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS46460.1"
                     /db_xref="GeneID:8575"
                     /db_xref="HGNC:HGNC:9438"
                     /db_xref="MIM:603424"
ORIGIN      
        1 mqstpfcgfc slgkmitakp gktpiqvlhe ygmktknipv yecersdvqi hvptftfrvt
       61 vgditctgeg tskklakhra aeaainilka nasicfavpd plmpdpskqp knqlnpigsl
      121 qelaihhgwr lpeytlsqeg gpahkreytt icrlesfmet gkgaskkqak rnaaekflak
      181 fsnispenhi sltnvvghsl gctwhslrns pgekinllkr sllsipntdy iqllseiake
      241 qgfnityldi delsangqyq claelstspi tvchgsgisc gnaqsdaahn alqylkiiae
      301 rk
//
LOCUS       NP_001354792             101 aa            linear   PRI 14-DEC-2022
DEFINITION  sialidase-3 isoform c [Homo sapiens].
ACCESSION   NP_001354792
VERSION     NP_001354792.1
DBSOURCE    REFSEQ: accession NM_001367863.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 101)
  AUTHORS   Kirolos SA, Pilling D and Gomer RH.
  TITLE     The extracellular sialidase NEU3 primes neutrophils
  JOURNAL   J Leukoc Biol 112 (6), 1399-1411 (2022)
   PUBMED   35899930
  REMARK    GeneRIF: The extracellular sialidase NEU3 primes neutrophils.
REFERENCE   2  (residues 1 to 101)
  AUTHORS   Miyagi T and Yamamoto K.
  TITLE     Sialidase NEU3 and its pathological significance
  JOURNAL   Glycoconj J 39 (5), 677-683 (2022)
   PUBMED   35675020
  REMARK    GeneRIF: Sialidase NEU3 and its pathological significance.
            Review article
            Erratum:[Glycoconj J. 2022 Aug;39(4):543. PMID: 35834088]
REFERENCE   3  (residues 1 to 101)
  AUTHORS   Bovio F, Epistolio S, Mozzi A, Monti E, Fusi P, Forcella M and
            Frattini M.
  TITLE     Role of NEU3 Overexpression in the Prediction of Efficacy of
            EGFR-Targeted Therapies in Colon Cancer Cell Lines
  JOURNAL   Int J Mol Sci 21 (22), 8805 (2020)
   PUBMED   33233823
  REMARK    GeneRIF: Role of NEU3 Overexpression in the Prediction of Efficacy
            of EGFR-Targeted Therapies in Colon Cancer Cell Lines.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 101)
  AUTHORS   Ghiroldi A, Piccoli M, Creo P, Cirillo F, Rota P, D'Imperio S,
            Ciconte G, Monasky MM, Micaglio E, Garatti A, Aureli M, Carsana EV,
            Menicanti L, Pappone C and Anastasia L.
  TITLE     Role of sialidase Neu3 and ganglioside GM3 in cardiac fibroblasts
            activation
  JOURNAL   Biochem J 477 (17), 3401-3415 (2020)
   PUBMED   32869836
  REMARK    GeneRIF: Role of sialidase Neu3 and ganglioside GM3 in cardiac
            fibroblasts activation.
REFERENCE   5  (residues 1 to 101)
  AUTHORS   Chen W, Karhadkar TR, Ryu C, Herzog EL and Gomer RH.
  TITLE     Reduced Sialylation and Bioactivity of the Antifibrotic Protein
            Serum Amyloid P in the Sera of Patients with Idiopathic Pulmonary
            Fibrosis
  JOURNAL   Immunohorizons 4 (6), 352-362 (2020)
   PUBMED   32576593
  REMARK    GeneRIF: Reduced Sialylation and Bioactivity of the Antifibrotic
            Protein Serum Amyloid P in the Sera of Patients with Idiopathic
            Pulmonary Fibrosis.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 101)
  AUTHORS   Kakugawa Y, Wada T, Yamaguchi K, Yamanami H, Ouchi K, Sato I and
            Miyagi T.
  TITLE     Up-regulation of plasma membrane-associated ganglioside sialidase
            (Neu3) in human colon cancer and its involvement in apoptosis
            suppression
  JOURNAL   Proc Natl Acad Sci U S A 99 (16), 10718-10723 (2002)
   PUBMED   12149448
  REMARK    GeneRIF: up-regulation of plasma membrane-associated ganglioside
            sialidase (Neu3) in human colon cancer and its involvement in
            apoptosis suppression
REFERENCE   7  (residues 1 to 101)
  AUTHORS   Wang Y, Yamaguchi K, Wada T, Hata K, Zhao X, Fujimoto T and Miyagi
            T.
  TITLE     A close association of the ganglioside-specific sialidase Neu3 with
            caveolin in membrane microdomains
  JOURNAL   J Biol Chem 277 (29), 26252-26259 (2002)
   PUBMED   12011038
  REMARK    GeneRIF: Neu3 functions as a caveolin-related signaling molecule
            within caveolin-rich microdomains
REFERENCE   8  (residues 1 to 101)
  AUTHORS   Wang Y, Yamaguchi K, Shimada Y, Zhao X and Miyagi T.
  TITLE     Site-directed mutagenesis of human membrane-associated ganglioside
            sialidase: identification of amino-acid residues contributing to
            substrate specificity
  JOURNAL   Eur J Biochem 268 (8), 2201-2208 (2001)
   PUBMED   11298736
REFERENCE   9  (residues 1 to 101)
  AUTHORS   Monti E, Bassi MT, Papini N, Riboni M, Manzoni M, Venerando B,
            Croci G, Preti A, Ballabio A, Tettamanti G and Borsani G.
  TITLE     Identification and expression of NEU3, a novel human sialidase
            associated to the plasma membrane
  JOURNAL   Biochem J 349 (Pt 1), 343-351 (2000)
   PUBMED   10861246
REFERENCE   10 (residues 1 to 101)
  AUTHORS   Wada T, Yoshikawa Y, Tokuyama S, Kuwabara M, Akita H and Miyagi T.
  TITLE     Cloning, expression, and chromosomal mapping of a human ganglioside
            sialidase
  JOURNAL   Biochem Biophys Res Commun 261 (1), 21-27 (1999)
   PUBMED   10405317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001992.4.
            
            Summary: This gene product belongs to a family of glycohydrolytic
            enzymes which remove sialic acid residues from glycoproteins and
            glycolipids. It is localized in the plasma membrane, and its
            activity is specific for gangliosides. It may play a role in
            modulating the ganglioside content of the lipid bilayer. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (5), as well as variant 6, encodes
            isoform c.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.140637.1,
                                           SRR1803616.89716.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..101
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..101
                     /product="sialidase-3 isoform c"
                     /EC_number="3.2.1.18"
                     /note="ganglioside sialidase; N-acetyl-alpha-neuraminidase
                     3; sialidase-3; membrane sialidase; sialidase 3 (membrane
                     sialidase); ganglioside sialidasedis"
                     /calculated_mol_wt=10574
     CDS             1..101
                     /gene="NEU3"
                     /gene_synonym="SIAL3"
                     /coded_by="NM_001367863.1:126..431"
                     /note="isoform c is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS91539.1"
                     /db_xref="GeneID:10825"
                     /db_xref="HGNC:HGNC:7760"
                     /db_xref="MIM:604617"
ORIGIN      
        1 mrpadlpprp meespasssa pteteepgss avgapeatdg shttgasdhe plscmgaeew
       61 lcvpvlhlca gpchrastdc vrqeccppll hlqsgcwmfm e
//
LOCUS       NP_001193967             264 aa            linear   PRI 17-DEC-2022
DEFINITION  transcription factor ETV7 isoform 5 [Homo sapiens].
ACCESSION   NP_001193967
VERSION     NP_001193967.1
DBSOURCE    REFSEQ: accession NM_001207038.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 264)
  AUTHORS   Li H, Zhang Y and Zheng S.
  TITLE     Comprehensive Analysis Identified ETV7 as a Potential Prognostic
            Biomarker in Bladder Cancer
  JOURNAL   Biomed Res Int 2021, 8530186 (2021)
   PUBMED   34926692
  REMARK    GeneRIF: Comprehensive Analysis Identified ETV7 as a Potential
            Prognostic Biomarker in Bladder Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 264)
  AUTHORS   Pezze L, Meskyte EM, Forcato M, Pontalti S, Badowska KA, Rizzotto
            D, Skvortsova II, Bicciato S and Ciribilli Y.
  TITLE     ETV7 regulates breast cancer stem-like cell features by repressing
            IFN-response genes
  JOURNAL   Cell Death Dis 12 (8), 742 (2021)
   PUBMED   34315857
  REMARK    GeneRIF: ETV7 regulates breast cancer stem-like cell features by
            repressing IFN-response genes.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 264)
  AUTHORS   Qu H, Zhao H, Zhang X, Liu Y, Li F, Sun L and Song Z.
  TITLE     Integrated Analysis of the ETS Family in Melanoma Reveals a
            Regulatory Role of ETV7 in the Immune Microenvironment
  JOURNAL   Front Immunol 11, 612784 (2020)
   PUBMED   33424867
  REMARK    GeneRIF: Integrated Analysis of the ETS Family in Melanoma Reveals
            a Regulatory Role of ETV7 in the Immune Microenvironment.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 264)
  AUTHORS   Numata M, Klein Geltink RI and Grosveld GC.
  TITLE     Establishment of a transgenic mouse to model ETV7 expressing human
            tumors
  JOURNAL   Transgenic Res 28 (1), 115-128 (2019)
   PUBMED   30478527
  REMARK    GeneRIF: ETV7 expression enhanced the colony-forming and
            self-renewal activities of primary myeloid Pten(-/-) cells. In this
            study we established a transgenic mouse in which we can more
            accurately model ETV7-associated human tumorigenesis in vivo.
REFERENCE   5  (residues 1 to 264)
  AUTHORS   Harwood FC, Klein Geltink RI, O'Hara BP, Cardone M, Janke L,
            Finkelstein D, Entin I, Paul L, Houghton PJ and Grosveld GC.
  TITLE     ETV7 is an essential component of a rapamycin-insensitive mTOR
            complex in cancer
  JOURNAL   Sci Adv 4 (9), eaar3938 (2018)
   PUBMED   30258985
  REMARK    GeneRIF: ETV7 expression is up-regulated in many types of
            cancer.ETV7 expression alters mTOR signaling.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 264)
  AUTHORS   Cardone M, Kandilci A, Carella C, Nilsson JA, Brennan JA, Sirma S,
            Ozbek U, Boyd K, Cleveland JL and Grosveld GC.
  TITLE     The novel ETS factor TEL2 cooperates with Myc in B lymphomagenesis
  JOURNAL   Mol Cell Biol 25 (6), 2395-2405 (2005)
   PUBMED   15743832
  REMARK    GeneRIF: Human TEL2 augments the proliferation and survival of
            normal mouse B cells and dramatically accelerates lymphoma
            development in Emu-Myc transgenic mice.
REFERENCE   7  (residues 1 to 264)
  AUTHORS   Boccuni P, MacGrogan D, Scandura JM and Nimer SD.
  TITLE     The human L(3)MBT polycomb group protein is a transcriptional
            repressor and interacts physically and functionally with TEL (ETV6)
  JOURNAL   J Biol Chem 278 (17), 15412-15420 (2003)
   PUBMED   12588862
REFERENCE   8  (residues 1 to 264)
  AUTHORS   Gu X, Shin BH, Akbarali Y, Weiss A, Boltax J, Oettgen P and
            Libermann TA.
  TITLE     Tel-2 is a novel transcriptional repressor related to the Ets
            factor Tel/ETV-6
  JOURNAL   J Biol Chem 276 (12), 9421-9436 (2001)
   PUBMED   11108721
REFERENCE   9  (residues 1 to 264)
  AUTHORS   Poirel H, Lopez RG, Lacronique V, Della Valle V, Mauchauffe M,
            Berger R, Ghysdael J and Bernard OA.
  TITLE     Characterization of a novel ETS gene, TELB, encoding a protein
            structurally and functionally related to TEL
  JOURNAL   Oncogene 19 (41), 4802-4806 (2000)
   PUBMED   11032031
REFERENCE   10 (residues 1 to 264)
  AUTHORS   Potter MD, Buijs A, Kreider B, van Rompaey L and Grosveld GC.
  TITLE     Identification and characterization of a new human ETS-family
            transcription factor, TEL2, that is expressed in hematopoietic
            tissues and can associate with TEL1/ETV6
  JOURNAL   Blood 95 (11), 3341-3348 (2000)
   PUBMED   10828014
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF147782.1 and AF116509.1.
            
            Summary: The protein encoded by this gene belongs to the ETS family
            of transcription factors, which is a large group of evolutionarily
            conserved transcriptional regulators that play an important role in
            a variety of cellular processes throughout development and
            differentiation, and are involved in oncogenesis as well. This
            protein is predominantly expressed in hematopoietic tissues.
            Several alternatively spliced transcript variants encoding
            different isoforms have been described for this gene
            (PMID:11108721).[provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (5) lacks an in-frame coding exon
            compared to variant 1. This results in a shorter isoform (5, also
            known as isoform G) missing an internal protein segment compared to
            isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF147782.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153307 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..264
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     Protein         1..264
                     /product="transcription factor ETV7 isoform 5"
                     /note="ets variant gene 7 (TEL2 oncogene); Ets
                     transcription factor TEL-2b; transcription factor ETV7;
                     tel-related Ets factor; ETS-related protein Tel2"
                     /calculated_mol_wt=30632
     Region          49..116
                     /region_name="SAM_PNT-Tel_Yan"
                     /note="Sterile alpha motif (SAM)/Pointed domain of Tel/Yan
                     protein; cd08535"
                     /db_xref="CDD:176085"
     Site            order(56,78,81..83,85..86,89,91,93..94,97..98)
                     /site_type="other"
                     /note="oligomer interface ML [polypeptide binding]"
                     /db_xref="CDD:176085"
     Site            order(68..73,100..102,104..105,108..109)
                     /site_type="other"
                     /note="oligomer interface EH [polypeptide binding]"
                     /db_xref="CDD:176085"
     Region          146..231
                     /region_name="ETS"
                     /note="erythroblast transformation specific domain;
                     smart00413"
                     /db_xref="CDD:197710"
     CDS             1..264
                     /gene="ETV7"
                     /gene_synonym="TEL-2; TEL2; TELB"
                     /coded_by="NM_001207038.2:129..923"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS56424.1"
                     /db_xref="GeneID:51513"
                     /db_xref="HGNC:HGNC:18160"
                     /db_xref="MIM:605255"
ORIGIN      
        1 mqegelaisp ispvaamppl gthvqarcea qinllgeggi cklpgrlriq palwsredvl
       61 hwlrwaeqey slpctaehgf emngralcil tkddfrhrap ssgdvlyell qyiktqrral
      121 vcgpffggif rlktptqhsp vppedcrllw dyvyqllldt ryepyikwed kdakifrvvd
      181 pnglarlwgn hknrvnmtye kmsralrhyy klniikkepg qkllfrflkt pgkmvqdkhs
      241 hleplesqeq driefkdkrp eisp
//
LOCUS       NP_001243098             116 aa            linear   PRI 17-DEC-2022
DEFINITION  apolipoprotein M isoform 2 [Homo sapiens].
ACCESSION   NP_001243098
VERSION     NP_001243098.1
DBSOURCE    REFSEQ: accession NM_001256169.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 116)
  AUTHORS   Borup A, Donkin I, Boon MR, Frydland M, Martinez-Tellez B, Loft A,
            Keller SH, Kjaer A, Kjaergaard J, Hassager C, Barres R, Rensen PCN
            and Christoffersen C.
  TITLE     Association of apolipoprotein M and sphingosine-1-phosphate with
            brown adipose tissue after cold exposure in humans
  JOURNAL   Sci Rep 12 (1), 18753 (2022)
   PUBMED   36335116
  REMARK    GeneRIF: Association of apolipoprotein M and
            sphingosine-1-phosphate with brown adipose tissue after cold
            exposure in humans.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 116)
  AUTHORS   Cheng G and Zheng L.
  TITLE     Regulation of the apolipoprotein M signaling pathway: a review
  JOURNAL   J Recept Signal Transduct Res 42 (3), 285-292 (2022)
   PUBMED   34006168
  REMARK    GeneRIF: Regulation of the apolipoprotein M signaling pathway: a
            review.
            Review article
REFERENCE   3  (residues 1 to 116)
  AUTHORS   Zhou Y, Yao S, Yu M, Wei J, Fang Q, Xu N and Luo G.
  TITLE     The effects and possible mechanism of action of apolipoprotein M on
            the growth of breast cancer cells
  JOURNAL   Mol Biol Rep 49 (2), 1171-1179 (2022)
   PUBMED   34775573
  REMARK    GeneRIF: The effects and possible mechanism of action of
            apolipoprotein M on the growth of breast cancer cells.
REFERENCE   4  (residues 1 to 116)
  AUTHORS   Velagapudi S, Rohrer L, Poti F, Feuerborn R, Perisa D, Wang D,
            Panteloglou G, Potapenko A, Yalcinkaya M, Hulsmeier AJ, Hesse B,
            Lukasz A, Liu M, Parks JS, Christoffersen C, Stoffel M, Simoni M,
            Nofer JR and von Eckardstein A.
  TITLE     Apolipoprotein M and Sphingosine-1-Phosphate Receptor 1 Promote the
            Transendothelial Transport of High-Density Lipoprotein
  JOURNAL   Arterioscler Thromb Vasc Biol 41 (10), e468-e479 (2021)
   PUBMED   34407633
  REMARK    GeneRIF: Apolipoprotein M and Sphingosine-1-Phosphate Receptor 1
            Promote the Transendothelial Transport of High-Density Lipoprotein.
REFERENCE   5  (residues 1 to 116)
  AUTHORS   Tageldeen MM, Badrawy H, Abdelmeguid M, Zaghlol M, Gaber N and
            Kenawy EM.
  TITLE     Apolipoprotein M Gene Polymorphism Rs805297 (C-1065A): Association
            With Type 2 Diabetes Mellitus and Related Microvascular
            Complications in South Egypt
  JOURNAL   Am J Med Sci 362 (1), 48-55 (2021)
   PUBMED   33621527
  REMARK    GeneRIF: Apolipoprotein M Gene Polymorphism Rs805297 (C-1065A):
            Association With Type 2 Diabetes Mellitus and Related Microvascular
            Complications in South Egypt.
REFERENCE   6  (residues 1 to 116)
  AUTHORS   Zhang XY, Dong X, Zheng L, Luo GH, Liu YH, Ekstrom U, Nilsson-Ehle
            P, Ye Q and Xu N.
  TITLE     Specific tissue expression and cellular localization of human
            apolipoprotein M as determined by in situ hybridization
  JOURNAL   Acta Histochem 105 (1), 67-72 (2003)
   PUBMED   12666989
REFERENCE   7  (residues 1 to 116)
  AUTHORS   Xu N, Zhang XY, Dong X, Ekstrom U, Ye Q and Nilsson-Ehle P.
  TITLE     Effects of platelet-activating factor, tumor necrosis factor, and
            interleukin-1alpha on the expression of apolipoprotein M in HepG2
            cells
  JOURNAL   Biochem Biophys Res Commun 292 (4), 944-950 (2002)
   PUBMED   11944906
REFERENCE   8  (residues 1 to 116)
  AUTHORS   Duan J, Dahlback B and Villoutreix BO.
  TITLE     Proposed lipocalin fold for apolipoprotein M based on
            bioinformatics and site-directed mutagenesis
  JOURNAL   FEBS Lett 499 (1-2), 127-132 (2001)
   PUBMED   11418126
REFERENCE   9  (residues 1 to 116)
  AUTHORS   Xu N and Dahlback B.
  TITLE     A novel human apolipoprotein (apoM)
  JOURNAL   J Biol Chem 274 (44), 31286-31290 (1999)
   PUBMED   10531326
REFERENCE   10 (residues 1 to 116)
  AUTHORS   Albertella MR, Jones H, Thomson W, Olavesen MG and Campbell RD.
  TITLE     Localization of eight additional genes in the human major
            histocompatibility complex, including the gene encoding the casein
            kinase II beta subunit (CSNK2B)
  JOURNAL   Genomics 36 (2), 240-251 (1996)
   PUBMED   8812450
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL662801.7, CB054016.1,
            CN428415.1 and AA476324.1.
            
            Summary: The protein encoded by this gene is an apolipoprotein and
            member of the lipocalin protein family. It is found associated with
            high density lipoproteins and to a lesser extent with low density
            lipoproteins and triglyceride-rich lipoproteins. The encoded
            protein is secreted through the plasma membrane but remains
            membrane-bound, where it is involved in lipid transport. Alternate
            splicing results in both coding and non-coding variants of this
            gene. [provided by RefSeq, Jan 2012].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream start codon, compared to variant 1. The encoded isoform
            (2) has a shorter N-terminus compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF161454.1, SRR1163657.72293.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..116
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     Protein         1..116
                     /product="apolipoprotein M isoform 2"
                     /note="NG20-like protein; alternative name: G3a, NG20;
                     protein G3a"
                     /calculated_mol_wt=12920
     Region          <1..115
                     /region_name="Lipocalin"
                     /note="Lipocalin / cytosolic fatty-acid binding protein
                     family; cl21528"
                     /db_xref="CDD:451292"
     CDS             1..116
                     /gene="APOM"
                     /gene_synonym="apo-M; G3a; HSPC336; NG20"
                     /coded_by="NM_001256169.2:251..601"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS59004.1"
                     /db_xref="GeneID:55937"
                     /db_xref="HGNC:HGNC:13916"
                     /db_xref="MIM:606907"
ORIGIN      
        1 maagsapmql hlratirmkd glcvprkwiy hltegstdlr tegrpdmkte lfssscpggi
       61 mlnetgqgyq rfllynrsph ppekcveefk sltscldska flltprnqea celsnn
//
LOCUS       NP_987090                334 aa            linear   PRI 17-DEC-2022
DEFINITION  inactive ubiquitin carboxyl-terminal hydrolase 50 [Homo sapiens].
ACCESSION   NP_987090
VERSION     NP_987090.2
DBSOURCE    REFSEQ: accession NM_203494.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 334)
  AUTHORS   Cai J, Wei J, Schrott V, Zhao J, Bullock G and Zhao Y.
  TITLE     Induction of deubiquitinating enzyme USP50 during erythropoiesis
            and its potential role in the regulation of Ku70 stability
  JOURNAL   J Investig Med 66 (1), 1-6 (2018)
   PUBMED   29101126
  REMARK    GeneRIF: verexpression of USP50 has no effect on Ku70 mRNA levels,
            while it reduces Ku70 protein levels by promoting Ku70 degradation,
            suggesting that USP50 may indirectly regulate Ku70 protein
            stability.
REFERENCE   2  (residues 1 to 334)
  AUTHORS   Lee JY, Seo D, You J, Chung S, Park JS, Lee JH, Jung SM, Lee YS and
            Park SH.
  TITLE     The deubiquitinating enzyme, ubiquitin-specific peptidase 50,
            regulates inflammasome activation by targeting the ASC adaptor
            protein
  JOURNAL   FEBS Lett 591 (3), 479-490 (2017)
   PUBMED   28094437
  REMARK    GeneRIF: the deubiquitinating enzyme USP50 binds to the ASC protein
            and subsequently regulates the inflammasome signaling pathway.
REFERENCE   3  (residues 1 to 334)
  AUTHORS   Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann
            TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby
            A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y,
            Tarasov KV, Dorr M, Muller-Nurasyid M, Lahtinen AM, Nolte IM, Smith
            AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D,
            Lyytikainen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C,
            Navarro P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S,
            Kumari M, Morris RW, Naluai AT, Padmanabhan S, Kluttig A, Strohmer
            B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K,
            Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR,
            Alonso A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane
            PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J,
            Smith JG, Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella
            M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polasek
            O, Wright AF, Griffin M, Daly MJ, Arnar DO, Holm H,
            Thorsteinsdottir U, Denny JC, Roden DM, Zuvich RL, Emilsson V,
            Plump AS, Larson MG, O'Donnell CJ, Yin X, Bobbo M, D'Adamo AP,
            Iorio A, Sinagra G, Carracedo A, Cummings SR, Nalls MA, Jula A,
            Kontula KK, Marjamaa A, Oikarinen L, Perola M, Porthan K, Erbel R,
            Hoffmann P, Jockel KH, Kalsch H, Nothen MM, den Hoed M, Loos RJ,
            Thelle DS, Gieger C, Meitinger T, Perz S, Peters A, Prucha H,
            Sinner MF, Waldenberger M, de Boer RA, Franke L, van der Vleuten
            PA, Beckmann BM, Martens E, Bardai A, Hofman N, Wilde AA, Behr ER,
            Dalageorgou C, Giudicessi JR, Medeiros-Domingo A, Barc J, Kyndt F,
            Probst V, Ghidoni A, Insolia R, Hamilton RM, Scherer SW,
            Brandimarto J, Margulies K, Moravec CE, del Greco M F, Fuchsberger
            C, O'Connell JR, Lee WK, Watt GC, Campbell H, Wild SH, El Mokhtari
            NE, Frey N, Asselbergs FW, Mateo Leach I, Navis G, van den Berg MP,
            van Veldhuisen DJ, Kellis M, Krijthe BP, Franco OH, Hofman A, Kors
            JA, Uitterlinden AG, Witteman JC, Kedenko L, Lamina C, Oostra BA,
            Abecasis GR, Lakatta EG, Mulas A, Orru M, Schlessinger D, Uda M,
            Markus MR, Volker U, Snieder H, Spector TD, Arnlov J, Lind L,
            Sundstrom J, Syvanen AC, Kivimaki M, Kahonen M, Mononen N,
            Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M, Nicolaides
            AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F, Whincup PH,
            Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E, Ferrucci L,
            Gasparini P, Wilson JF, Rudan I, Franke A, Muhleisen TW,
            Pramstaller PP, Lehtimaki TJ, Paterson AD, Parsa A, Liu Y, van
            Duijn CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix
            SB, Sanna S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA,
            Cappola TP, Olsen JV, Lage K, Schwartz PJ, Kaab S, Chakravarti A,
            Ackerman MJ, Pfeufer A, de Bakker PI and Newton-Cheh C.
  CONSRTM   CARe Consortium; COGENT Consortium; DCCT/EDIC; eMERGE Consortium;
            HRGEN Consortium
  TITLE     Genetic association study of QT interval highlights role for
            calcium signaling pathways in myocardial repolarization
  JOURNAL   Nat Genet 46 (8), 826-836 (2014)
   PUBMED   24952745
REFERENCE   4  (residues 1 to 334)
  AUTHORS   Aressy B, Jullien D, Cazales M, Marcellin M, Bugler B,
            Burlet-Schiltz O and Ducommun B.
  TITLE     A screen for deubiquitinating enzymes involved in the G/M
            checkpoint identifies USP50 as a regulator of HSP90-dependent Wee1
            stability
  JOURNAL   Cell Cycle 9 (18), 3815-3822 (2010)
   PUBMED   20930503
  REMARK    GeneRIF: USP50 may act through a HSP90-dependent mechanism to
            counteract CDC25B mitotic inducing activity and prevent Wee1
            degradation.
REFERENCE   5  (residues 1 to 334)
  AUTHORS   Puente XS and Lopez-Otin C.
  TITLE     A genomic analysis of rat proteases and protease inhibitors
  JOURNAL   Genome Res 14 (4), 609-622 (2004)
   PUBMED   15060002
REFERENCE   6  (residues 1 to 334)
  AUTHORS   Quesada V, Diaz-Perales A, Gutierrez-Fernandez A, Garabaya C, Cal S
            and Lopez-Otin C.
  TITLE     Cloning and enzymatic analysis of 22 novel human ubiquitin-specific
            proteases
  JOURNAL   Biochem Biophys Res Commun 314 (1), 54-62 (2004)
   PUBMED   14715245
REFERENCE   7  (residues 1 to 334)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012170.6.
            On Mar 20, 2010 this sequence version replaced NP_987090.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1968968, SAMEA2148093
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000532404.6/ ENSP00000434676.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..334
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.2"
     Protein         1..334
                     /product="inactive ubiquitin carboxyl-terminal hydrolase
                     50"
                     /EC_number="3.1.2.15"
                     /note="ubiquitin specific protease 50; inactive
                     ubiquitin-specific peptidase 50"
                     /calculated_mol_wt=38252
     Region          44..329
                     /region_name="UCH"
                     /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443"
                     /db_xref="CDD:425685"
     CDS             1..334
                     /gene="USP50"
                     /coded_by="NM_203494.5:142..1146"
                     /db_xref="CCDS:CCDS53944.1"
                     /db_xref="GeneID:373509"
                     /db_xref="HGNC:HGNC:20079"
ORIGIN      
        1 mtsqpslpad dfdiyhvlae ctdyydtlpv keadgnqphf qgvtglwnlg ntccvnaisq
       61 clcsilplve yfltgkyita lqndcsevat afaylmtdmw lgdsdcvspe ifwsalgnly
      121 paftkkmqqd aqeflicvln elhealkkyh ysrrrsyekg stqrccrkwi ttetsiitql
      181 feeqlnysiv clkcekctyk nevftvfslp ipskyecslr dclqcffqqd altwnneihc
      241 sfcetkqeta vrasiskapk iiifhlkrfd iqgttkrklr tdihypltnl dltpyicsif
      301 rkypkynlca vvnhfgdldg ghytafckns vtqa
//
LOCUS       NP_006751                184 aa            linear   PRI 18-DEC-2022
DEFINITION  uroplakin-2 precursor [Homo sapiens].
ACCESSION   NP_006751
VERSION     NP_006751.1
DBSOURCE    REFSEQ: accession NM_006760.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 184)
  AUTHORS   van Pel DM, Pors J, Yuen E, Chan R, Kos Z, Hayes MM and Wang G.
  TITLE     Distinct Uroplakin II Staining Pattern in Apocrine Breast Carcinoma
  JOURNAL   Appl Immunohistochem Mol Morphol 30 (10), 681-686 (2022)
   PUBMED   36227121
  REMARK    GeneRIF: Distinct Uroplakin II Staining Pattern in Apocrine Breast
            Carcinoma.
REFERENCE   2  (residues 1 to 184)
  AUTHORS   Pryma C, Villamil C, Gibb EA, Oo HZ, Seiler R, Contreras-Sanz A,
            Douglas J, Black PC and Wang G.
  TITLE     Uroplakin II as a single marker for luminal versus basal molecular
            subtypes in muscle invasive urothelial carcinoma
  JOURNAL   Virchows Arch 481 (3), 397-403 (2022)
   PUBMED   35612672
  REMARK    GeneRIF: Uroplakin II as a single marker for luminal versus basal
            molecular subtypes in muscle invasive urothelial carcinoma.
REFERENCE   3  (residues 1 to 184)
  AUTHORS   Leivo MZ, Tacha DE and Hansel DE.
  TITLE     Expression of uroplakin II and GATA-3 in bladder cancer mimickers:
            caveats in the use of a limited panel to determine cell of origin
            in bladder lesions
  JOURNAL   Hum Pathol 113, 28-33 (2021)
   PUBMED   33887302
  REMARK    GeneRIF: Expression of uroplakin II and GATA-3 in bladder cancer
            mimickers: caveats in the use of a limited panel to determine cell
            of origin in bladder lesions.
REFERENCE   4  (residues 1 to 184)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 184)
  AUTHORS   Mochizuki K, Kawai M, Odate T, Tahara I, Inoue T, Kasai K, Nakazawa
            T, Katoh R and Kondo T.
  TITLE     Diagnostic Utility of Prostein, Uroplakin II and SATB2 for
            Diagnosing Carcinoma of Unknown Primary Origin: A Systematic
            Immunohistochemical Profiling
  JOURNAL   Anticancer Res 38 (8), 4759-4766 (2018)
   PUBMED   30061246
  REMARK    GeneRIF: Uroplakin II was immunopositive in 53% and 60% of
            urothelial carcinomas (UC) of the bladder and the ureter,
            respectively.
REFERENCE   6  (residues 1 to 184)
  AUTHORS   Yuasa T, Yoshiki T, Isono T, Tanaka T, Hayashida H and Okada Y.
  TITLE     Expression of transitional cell-specific genes, uroplakin Ia and
            II, in bladder cancer: detection of circulating cancer cells in the
            peripheral blood of metastatic patients
  JOURNAL   Int J Urol 6 (6), 286-292 (1999)
   PUBMED   10404304
REFERENCE   7  (residues 1 to 184)
  AUTHORS   Lobban ED, Smith BA, Hall GD, Harnden P, Roberts P, Selby PJ,
            Trejdosiewicz LK and Southgate J.
  TITLE     Uroplakin gene expression by normal and neoplastic human urothelium
  JOURNAL   Am J Pathol 153 (6), 1957-1967 (1998)
   PUBMED   9846985
REFERENCE   8  (residues 1 to 184)
  AUTHORS   Wu RL, Osman I, Wu XR, Lu ML, Zhang ZF, Liang FX, Hamza R, Scher H,
            Cordon-Cardo C and Sun TT.
  TITLE     Uroplakin II gene is expressed in transitional cell carcinoma but
            not in bilharzial bladder squamous cell carcinoma: alternative
            pathways of bladder epithelial differentiation and tumor formation
  JOURNAL   Cancer Res 58 (6), 1291-1297 (1998)
   PUBMED   9515818
  REMARK    Erratum:[Cancer Res 1998 Jul 1;58(13):2904]
REFERENCE   9  (residues 1 to 184)
  AUTHORS   Wu XR, Lin JH, Walz T, Haner M, Yu J, Aebi U and Sun TT.
  TITLE     Mammalian uroplakins. A group of highly conserved urothelial
            differentiation-related membrane proteins
  JOURNAL   J Biol Chem 269 (18), 13716-13724 (1994)
   PUBMED   8175808
REFERENCE   10 (residues 1 to 184)
  AUTHORS   Lin JH, Wu XR, Kreibich G and Sun TT.
  TITLE     Precursor sequence, processing, and urothelium-specific expression
            of a major 15-kDa protein subunit of asymmetric unit membrane
  JOURNAL   J Biol Chem 269 (3), 1775-1784 (1994)
   PUBMED   7507484
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD556028.1 and Y13645.1.
            
            Summary: This gene encodes one of the proteins of the highly
            conserved urothelium-specific integral membrane proteins of the
            asymmetric unit membrane which forms urothelium apical plaques in
            mammals. The asymmetric unit membrane is believed to strengthen the
            urothelium by preventing cell rupture during bladder distention.
            The encoded protein is expressed in the peripheral blood of bladder
            cancer patients with transitional cell carcinomas.[provided by
            RefSeq, Sep 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Y13645.1, ERR279850.3032.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264031.3/ ENSP00000264031.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..184
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     Protein         1..184
                     /product="uroplakin-2 precursor"
                     /note="uroplakin II"
                     /calculated_mol_wt=16875
     sig_peptide     1..25
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2581
     Region          6..184
                     /region_name="UP_III_II"
                     /note="Uroplakin IIIb, IIIa and II; cl06408"
                     /db_xref="CDD:446987"
     mat_peptide     26..184
                     /product="uroplakin-2"
                     /calculated_mol_wt=16875
     Site            28
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O00526.2)"
     Site            57
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O00526.2)"
     Site            66
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O00526.2)"
     Site            156..176
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00526.2)"
     CDS             1..184
                     /gene="UPK2"
                     /gene_synonym="UP2; UPII"
                     /coded_by="NM_006760.4:54..608"
                     /db_xref="CCDS:CCDS8404.1"
                     /db_xref="GeneID:7379"
                     /db_xref="HGNC:HGNC:12579"
                     /db_xref="MIM:611558"
ORIGIN      
        1 mapllpirtl plilillall spgaadfnis slsgllspal tesllvalpp chltggnatl
       61 mvrrandskv vtssfvvppc rgrrelvsvv dsgagftvtr lsayqvtnlv pgtkfyisyl
      121 vkkgtatess reipmstlpr rnmesiglgm artggmvvit vllsvamfll vlgfiialal
      181 gsrk
//
LOCUS       NP_004131               1064 aa            linear   PRI 18-DEC-2022
DEFINITION  lethal(2) giant larvae protein homolog 1 [Homo sapiens].
ACCESSION   NP_004131
VERSION     NP_004131.4
DBSOURCE    REFSEQ: accession NM_004140.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1064)
  AUTHORS   Tocan V, Hayase J, Kamakura S, Kohda A, Ohga S, Kohjima M and
            Sumimoto H.
  TITLE     Hepatocyte polarity establishment and apical lumen formation are
            organized by Par3, Cdc42, and aPKC in conjunction with Lgl
  JOURNAL   J Biol Chem 297 (6), 101354 (2021)
   PUBMED   34717957
  REMARK    GeneRIF: Hepatocyte polarity establishment and apical lumen
            formation are organized by Par3, Cdc42, and aPKC in conjunction
            with Lgl.
REFERENCE   2  (residues 1 to 1064)
  AUTHORS   Abedrabbo M and Ravid S.
  TITLE     Scribble, Lgl1, and myosin II form a complex in vivo to promote
            directed cell migration
  JOURNAL   Mol Biol Cell 31 (20), 2234-2248 (2020)
   PUBMED   32697665
  REMARK    GeneRIF: Scribble, Lgl1, and myosin II form a complex in vivo to
            promote directed cell migration.
REFERENCE   3  (residues 1 to 1064)
  AUTHORS   Liu R, Zhang L, Xu Z and Cui Y.
  TITLE     [MiR-665 Promotes the Biological Behavior of Small Cell Lung Cancer
            by Targeting LLGL1]
  JOURNAL   Zhongguo Fei Ai Za Zhi 23 (4), 223-232 (2020)
   PUBMED   32222154
  REMARK    GeneRIF: [MiR-665 Promotes the Biological Behavior of Small Cell
            Lung Cancer by Targeting LLGL1].
REFERENCE   4  (residues 1 to 1064)
  AUTHORS   Zhu YX, Li CH, Li G, Feng H, Xia T, Wong CH, Fung FKC, Tong JH, To
            KF, Chen R and Chen Y.
  TITLE     LLGL1 Regulates Gemcitabine Resistance by Modulating the
            ERK-SP1-OSMR Pathway in Pancreatic Ductal Adenocarcinoma
  JOURNAL   Cell Mol Gastroenterol Hepatol 10 (4), 811-828 (2020)
   PUBMED   32615164
  REMARK    GeneRIF: LLGL1 Regulates Gemcitabine Resistance by Modulating the
            ERK-SP1-OSMR Pathway in Pancreatic Ductal Adenocarcinoma.
REFERENCE   5  (residues 1 to 1064)
  AUTHORS   Desuki A, Staib F, Gockel I, Moehler M, Lang H, Biesterfeld S,
            Maderer A, Galle PR, Berger MR and Schimanski CC.
  TITLE     Loss of LLGL1 Expression Correlates with Diffuse Gastric Cancer and
            Distant Peritoneal Metastases
  JOURNAL   Can J Gastroenterol Hepatol 2019, 2920493 (2019)
   PUBMED   31058107
  REMARK    GeneRIF: LLGL1 is coexpressed with E-cadherin; loss of expression
            of either protein is associated with diffuse gastric cancer and
            peritoneal metastases.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1064)
  AUTHORS   Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki
            L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K and Lupski JR.
  TITLE     Genes in a refined Smith-Magenis syndrome critical deletion
            interval on chromosome 17p11.2 and the syntenic region of the mouse
  JOURNAL   Genome Res 12 (5), 713-728 (2002)
   PUBMED   11997338
REFERENCE   7  (residues 1 to 1064)
  AUTHORS   Ludford-Menting MJ, Thomas SJ, Crimeen B, Harris LJ, Loveland BE,
            Bills M, Ellis S and Russell SM.
  TITLE     A functional interaction between CD46 and DLG4: a role for DLG4 in
            epithelial polarization
  JOURNAL   J Biol Chem 277 (6), 4477-4484 (2002)
   PUBMED   11714708
REFERENCE   8  (residues 1 to 1064)
  AUTHORS   Campbell HD, Fountain S, Young IG, Claudianos C, Hoheisel JD, Chen
            KS and Lupski JR.
  TITLE     Genomic structure, evolution, and expression of human FLII, a
            gelsolin and leucine-rich-repeat family member: overlap with LLGL
  JOURNAL   Genomics 42 (1), 46-54 (1997)
   PUBMED   9177775
REFERENCE   9  (residues 1 to 1064)
  AUTHORS   Koyama K, Fukushima Y, Inazawa J, Tomotsune D, Takahashi N and
            Nakamura Y.
  TITLE     The human homologue of the murine Llglh gene (LLGL) maps within the
            Smith-Magenis syndrome region in 17p11.2
  JOURNAL   Cytogenet Cell Genet 72 (1), 78-82 (1996)
   PUBMED   8565641
REFERENCE   10 (residues 1 to 1064)
  AUTHORS   Strand D, Unger S, Corvi R, Hartenstein K, Schenkel H, Kalmes A,
            Merdes G, Neumann B, Krieg-Schneider F, Coy JF et al.
  TITLE     A human homologue of the Drosophila tumour suppressor gene l(2)gl
            maps to 17p11.2-12 and codes for a cytoskeletal protein that
            associates with nonmuscle myosin II heavy chain
  JOURNAL   Oncogene 11 (2), 291-301 (1995)
   PUBMED   7542763
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC109515.6 and AC127537.8.
            On Nov 23, 2018 this sequence version replaced NP_004131.3.
            
            Summary: This gene encodes a protein that is similar to a tumor
            suppressor in Drosophila. The protein is part of a cytoskeletal
            network and is associated with nonmuscle myosin II heavy chain and
            a kinase that specifically phosphorylates this protein at serine
            residues. The gene is located within the Smith-Magenis syndrome
            region on chromosome 17. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC151838.1, SRR1660803.213199.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000316843.9/ ENSP00000321537.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1064
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     Protein         1..1064
                     /product="lethal(2) giant larvae protein homolog 1"
                     /note="human homolog to the D-lgl gene protein; lethal
                     giant larvae homolog 1, scribble cell polarity complex
                     component; LLGL1, scribble cell polarity complex
                     component"
                     /calculated_mol_wt=115287
     Region          38..71
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15334.3)"
     Region          78..119
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15334.3)"
     Region          139..176
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15334.3)"
     Region          200..234
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15334.3)"
     Region          240..272
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15334.3)"
     Region          280..379
                     /region_name="LLGL"
                     /note="LLGL2; pfam08366"
                     /db_xref="CDD:429948"
     Region          290..332
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15334.3)"
     Region          340..374
                     /region_name="WD 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15334.3)"
     Region          396..474
                     /region_name="WD 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15334.3)"
     Region          518..593
                     /region_name="WD 9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15334.3)"
     Region          602..663
                     /region_name="WD 10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15334.3)"
     Site            663
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12725730; propagated from
                     UniProtKB/Swiss-Prot (Q15334.3)"
     Region          723..783
                     /region_name="WD 11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15334.3)"
     Region          792..844
                     /region_name="WD 12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15334.3)"
     Region          849..902
                     /region_name="WD 13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15334.3)"
     Region          916..939
                     /region_name="WD 14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15334.3)"
     Site            958
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q80Y17; propagated from
                     UniProtKB/Swiss-Prot (Q15334.3)"
     Region          966..1010
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15334.3)"
     Site            967
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q80Y17; propagated from
                     UniProtKB/Swiss-Prot (Q15334.3)"
     Site            985
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q80Y17; propagated from
                     UniProtKB/Swiss-Prot (Q15334.3)"
     CDS             1..1064
                     /gene="LLGL1"
                     /gene_synonym="DLG4; HUGL; HUGL-1; HUGL1; Lgl1; LLGL;
                     Mgl1"
                     /coded_by="NM_004140.4:49..3243"
                     /db_xref="CCDS:CCDS32586.1"
                     /db_xref="GeneID:3996"
                     /db_xref="HGNC:HGNC:6628"
                     /db_xref="MIM:600966"
ORIGIN      
        1 mmkfrfrrqg adpqreklkq elfafnktve hgfpnqpsal afdpelrima igtrsgavki
       61 ygapgveftg lhrdaatvtq mhfltgqgrl lsllddsslh lweivhhngc ahleealsfq
      121 lpsrpgfdga saplsltrvt vvllvaasdi aalgtegssv ffldvttltl legqtlapge
      181 vlrsvpddyr cgkalgpves lqghlrdptk iligysrgll viwnqasqcv dhiflgnqql
      241 eslcwgrdss tvvsshsdgs yavwsvdags fptlqptvat tpygpfpcka inkilwrnce
      301 sgghfiifsg gmprasygdr hcvsvlraet lvtldftsri idfftvhstr pedefddpqa
      361 lavlleeelv vldlqtpgwp avpapylapl hssaitcsah vasvpaklwa rivsageqqs
      421 pqpvssalsw pitggrnlaq epsqrglllt ghedgtvrfw dasgvalrpl yklstaglfq
      481 tdcehadsla qaaeddwppf rkvgcfdpys ddprlgvqkv alckytaqmv vagtagqvlv
      541 lelsdvpveq avsvaiidll qdregftwkg herlsprtgp lpwpagfqpr vlvqclppaa
      601 vtavtlhtew slvafgtshg fglfdyqrks pvlarctlhp ndslamegpl srvkslkksl
      661 rqsfrrirks rvsgkkraan assklqeana qlaeqacphd vemtpvqrri eprsaddsls
      721 gvvrclyfad tflrdgahhg ptmwagtnsg svfayalevp aaavggekrp eqaveavlgk
      781 evqlmhrapv vaiavldgrg rplpepyeas rdlaqapdmq gghavliase eqfkvftlpk
      841 vsaktkfklt ahegcrvrkv alatfasvac edyaetclac ltnlgdvhvf svpglrpqvh
      901 yscirkedis giascvftrh gqgfylisps eferfslsar niteplcsld inwprdatqa
      961 syrirespkl sqangtpsil lapqsldgsp dpahsmgpdt peppeaalsp msidsatsad
     1021 ttldttgdvt vedvkdflgs seeseknlrn laedeahaca ilik
//
LOCUS       NP_653178                670 aa            linear   PRI 24-DEC-2022
DEFINITION  outer dynein arm-docking complex subunit 1 isoform 2 [Homo
            sapiens].
ACCESSION   NP_653178
VERSION     NP_653178.3
DBSOURCE    REFSEQ: accession NM_144577.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 670)
  AUTHORS   Kos R, Israels J, van Gogh CDL, Altenburg J, Diepenhorst S, Paff T,
            Boon EMJ, Micha D, Pals G, Neerincx AH, Maitland-van der Zee AH and
            Haarman EG.
  CONSRTM   Amsterdam Mucociliary Clearance Disease (AMCD) Research Group
  TITLE     Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic
            features in patients with a CCDC114 mutation
  JOURNAL   Am J Med Genet C Semin Med Genet 190 (1), 89-101 (2022)
   PUBMED   35343062
  REMARK    GeneRIF: Primary ciliary dyskinesia in Volendam: Diagnostic and
            phenotypic features in patients with a CCDC114 mutation.
REFERENCE   2  (residues 1 to 670)
  AUTHORS   Ostrowski LE, Yin W, Smith AJ, Sears PR, Bustamante-Marin XM, Dang
            H, Hildebrandt F, Daniels LA, Capps NA, Sullivan KM, Leigh MW,
            Zariwala MA and Knowles MR.
  TITLE     Expression of a Truncated Form of ODAD1 Associated with an
            Unusually Mild Primary Ciliary Dyskinesia Phenotype
  JOURNAL   Int J Mol Sci 23 (3), 1753 (2022)
   PUBMED   35163670
  REMARK    GeneRIF: Expression of a Truncated Form of ODAD1 Associated with an
            Unusually Mild Primary Ciliary Dyskinesia Phenotype.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 670)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 670)
  AUTHORS   Li P, He Y, Cai G, Xiao F, Yang J, Li Q and Chen X.
  TITLE     CCDC114 is mutated in patient with a complex phenotype combining
            primary ciliary dyskinesia, sensorineural deafness, and renal
            disease
  JOURNAL   J Hum Genet 64 (1), 39-48 (2019)
   PUBMED   30291279
  REMARK    GeneRIF: CCDC114 mutation is associated with primary ciliary
            dyskinesia, sensorineural deafness, and renal disease.
REFERENCE   5  (residues 1 to 670)
  AUTHORS   Loges NT, Antony D, Maver A, Deardorff MA, Gulec EY, Gezdirici A,
            Nothe-Menchen T, Hoben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu
            K, Goldmuntz E, Cuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z,
            Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C,
            Olbrich H, Omran H and Schmidts M.
  TITLE     Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects
            and Subtle Respiratory Ciliary-Beating Defects
  JOURNAL   Am J Hum Genet 103 (6), 995-1008 (2018)
   PUBMED   30471718
REFERENCE   6  (residues 1 to 670)
  AUTHORS   Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty
            GW, Kurkowiak M, Loges NT, Diggle CP, Morante NF, Gabriel GC, Lemke
            KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JK, Mans DA,
            Letteboer SJ, Werner C, Burgoyne T, Westermann C, Rutman A, Carr
            IM, O'Callaghan C, Moya E, Chung EM, Sheridan E, Nielsen KG,
            Roepman R, Bartscherer K, Burdine RD, Lo CW, Omran H and Mitchison
            HM.
  CONSRTM   UK10K Consortium
  TITLE     CCDC151 mutations cause primary ciliary dyskinesia by disruption of
            the outer dynein arm docking complex formation
  JOURNAL   Am J Hum Genet 95 (3), 257-274 (2014)
   PUBMED   25192045
REFERENCE   7  (residues 1 to 670)
  AUTHORS   Wu DH and Singaraja RR.
  TITLE     Loss-of-function mutations in CCDC114 cause primary ciliary
            dyskinesia
  JOURNAL   Clin Genet 83 (6), 526-527 (2013)
   PUBMED   23506398
REFERENCE   8  (residues 1 to 670)
  AUTHORS   Onoufriadis A, Paff T, Antony D, Shoemark A, Micha D, Kuyt B,
            Schmidts M, Petridi S, Dankert-Roelse JE, Haarman EG, Daniels JM,
            Emes RD, Wilson R, Hogg C, Scambler PJ, Chung EM, Pals G and
            Mitchison HM.
  CONSRTM   UK10K
  TITLE     Splice-site mutations in the axonemal outer dynein arm docking
            complex gene CCDC114 cause primary ciliary dyskinesia
  JOURNAL   Am J Hum Genet 92 (1), 88-98 (2013)
   PUBMED   23261303
  REMARK    GeneRIF: Splice-site mutations in the axonemal outer dynein arm
            docking complex gene CCDC114 cause primary ciliary dyskinesia
REFERENCE   9  (residues 1 to 670)
  AUTHORS   Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ,
            Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel
            SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ,
            Nickerson DA, Shendure J and Zariwala MA.
  CONSRTM   Genetic Disorders of Mucociliary Clearance Consortium
  TITLE     Exome sequencing identifies mutations in CCDC114 as a cause of
            primary ciliary dyskinesia
  JOURNAL   Am J Hum Genet 92 (1), 99-106 (2013)
   PUBMED   23261302
  REMARK    GeneRIF: These results revealed that mutations in CCDC114 are a
            cause of ciliary dysmotility and PCD and further demonstrate the
            utility of exome sequencing to identify genetic causes in
            heterogeneous recessive disorders.
REFERENCE   10 (residues 1 to 670)
  AUTHORS   Zariwala,M.A., Knowles,M.R. and Leigh,M.W.
  TITLE     Primary Ciliary Dyskinesia
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301301
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC007730.2, DB060305.1, AC008392.6, AK057488.1 and BX101994.1.
            On Dec 4, 2008 this sequence version replaced NP_653178.2.
            
            Summary: This gene encodes a coiled-coil domain-containing protein
            that is a component of the outer dynein arm docking complex in
            cilia cells. Mutations in this gene may cause primary ciliary
            dyskinesia 20. [provided by RefSeq, May 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1968189, SAMEA1968540
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..670
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..670
                     /product="outer dynein arm-docking complex subunit 1
                     isoform 2"
                     /note="coiled-coil domain-containing protein 114;
                     coiled-coil domain containing 114"
                     /calculated_mol_wt=74915
     Region          <5..374
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          454..473
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96M63.3)"
     Site            517
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B1H228; propagated from
                     UniProtKB/Swiss-Prot (Q96M63.3)"
     Region          526..596
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96M63.3)"
     Region          616..670
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96M63.3)"
     CDS             1..670
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /coded_by="NM_144577.4:108..2120"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS12714.2"
                     /db_xref="GeneID:93233"
                     /db_xref="HGNC:HGNC:26560"
                     /db_xref="MIM:615038"
ORIGIN      
        1 megerraysk evhqrinkql eeirrleevr gdlqvqisaa qnqvkrlrds qrlenmdrll
       61 kgraqvqaei eelqeqtral dkqiqewetr ifthsknvrs pgfildqkvk irrririlen
      121 qldrvtchfd nqlvrnaalr eeldllridr nrylnvdrkl kkeihhlhhl vstlilssts
      181 ayavreeaka kmgllrerae keeaqsemea qvlqrqilhl eqlhhflklk nndrqpdpdv
      241 lekrekqage vaegvwktsq erlvlcyeda lnklsqlmge sdpdllvqky leieernfae
      301 fnfineqnle lehvqeeike mqealvsara skddqhllqe qqqkvlqqrm dkvhseaerl
      361 earfqdvrgq leklkadiql lftkahcdss middllgvkt smgdrdmglf lsliekrlve
      421 lltvqaflha qsftsladaa llvlgqsled lpkkmaplqp pdtledppgf easddypmsr
      481 eellsqvekl velqeqaeaq rqkdlaaaaa kldgtlsvdl astqragsst vlvptrhpha
      541 ipgsilshkt srdrgslghv tfgglssstg hlpshithgd pntghvtfgs tsassgghvt
      601 frpvsassyl gstgyvgssr ggenteggve sggtasdssg glgssrdhvs stgpasstgp
      661 gsstskdsrg
//
LOCUS       NP_001356371             377 aa            linear   PRI 25-DEC-2022
DEFINITION  NIF3-like protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001356371 XP_011509886
VERSION     NP_001356371.1
DBSOURCE    REFSEQ: accession NM_001369442.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 377)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 377)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 377)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam
            S, MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 377)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   5  (residues 1 to 377)
  AUTHORS   Simonis N, Rual JF, Lemmens I, Boxus M, Hirozane-Kishikawa T, Gatot
            JS, Dricot A, Hao T, Vertommen D, Legros S, Daakour S, Klitgord N,
            Martin M, Willaert JF, Dequiedt F, Navratil V, Cusick ME, Burny A,
            Van Lint C, Hill DE, Tavernier J, Kettmann R, Vidal M and Twizere
            JC.
  TITLE     Host-pathogen interactome mapping for HTLV-1 and -2 retroviruses
  JOURNAL   Retrovirology 9, 26 (2012)
   PUBMED   22458338
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 377)
  AUTHORS   Merla G, Howald C, Antonarakis SE and Reymond A.
  TITLE     The subcellular localization of the ChoRE-binding protein, encoded
            by the Williams-Beuren syndrome critical region gene 14, is
            regulated by 14-3-3
  JOURNAL   Hum Mol Genet 13 (14), 1505-1514 (2004)
   PUBMED   15163635
REFERENCE   7  (residues 1 to 377)
  AUTHORS   Tascou S, Kang TW, Trappe R, Engel W and Burfeind P.
  TITLE     Identification and characterization of NIF3L1 BP1, a novel
            cytoplasmic interaction partner of the NIF3L1 protein
  JOURNAL   Biochem Biophys Res Commun 309 (2), 440-448 (2003)
   PUBMED   12951069
REFERENCE   8  (residues 1 to 377)
  AUTHORS   Akiyama H, Fujisawa N, Tashiro Y, Takanabe N, Sugiyama A and
            Tashiro F.
  TITLE     The role of transcriptional corepressor Nif3l1 in early stage of
            neural differentiation via cooperation with Trip15/CSN2
  JOURNAL   J Biol Chem 278 (12), 10752-10762 (2003)
   PUBMED   12522100
REFERENCE   9  (residues 1 to 377)
  AUTHORS   Hadano S, Yanagisawa Y, Skaug J, Fichter K, Nasir J, Martindale D,
            Koop BF, Scherer SW, Nicholson DW, Rouleau GA, Ikeda J and Hayden
            MR.
  TITLE     Cloning and characterization of three novel genes, ALS2CR1,
            ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis
            (ALS2) critical region at chromosome 2q33-q34: candidate genes for
            ALS2
  JOURNAL   Genomics 71 (2), 200-213 (2001)
   PUBMED   11161814
REFERENCE   10 (residues 1 to 377)
  AUTHORS   Tascou S, Uedelhoven J, Dixkens C, Nayernia K, Engel W and Burfeind
            P.
  TITLE     Isolation and characterization of a novel human gene, NIF3L1, and
            its mouse ortholog, Nif3l1, highly conserved from bacteria to
            mammals
  JOURNAL   Cytogenet Cell Genet 90 (3-4), 330-336 (2000)
   PUBMED   11124544
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005037.2.
            On Apr 9, 2019 this sequence version replaced XP_011509886.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.24490.1,
                                           SRR1803611.223097.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..377
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     Protein         1..377
                     /product="NIF3-like protein 1 isoform 1"
                     /EC_number="3.5.4.16"
                     /note="amyotrophic lateral sclerosis 2 (juvenile)
                     chromosome region, candidate 1; NIF3 (Ngg1 interacting
                     factor 3, S.pombe homolog)-like 1; NIF3-like protein 1;
                     NIF3 NGG1 interacting factor 3-like 1; amyotrophic lateral
                     sclerosis 2 chromosomal region candidate gene 1 protein;
                     GTP cyclohydrolase I; putative GTP cyclohydrolase 1 type 2
                     NIF3L1"
                     /calculated_mol_wt=41837
     Region          33..354
                     /region_name="NIF3"
                     /note="NIF3 (NGG1p interacting factor 3); pfam01784"
                     /db_xref="CDD:426431"
     Site            109
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9GZT8.2)"
     Region          244..377
                     /region_name="Mediates interaction with COPS2.
                     /evidence=ECO:0000250|UniProtKB:Q9EQ80"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZT8.2)"
     Site            255
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9EQ80; propagated from
                     UniProtKB/Swiss-Prot (Q9GZT8.2)"
     Site            259
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9EQ80; propagated from
                     UniProtKB/Swiss-Prot (Q9GZT8.2)"
     CDS             1..377
                     /gene="NIF3L1"
                     /gene_synonym="ALS2CR1; CALS-7; MDS015"
                     /coded_by="NM_001369442.1:1228..2361"
                     /note="isoform 1 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS46485.1"
                     /db_xref="GeneID:60491"
                     /db_xref="HGNC:HGNC:13390"
                     /db_xref="MIM:605778"
ORIGIN      
        1 mlsscvrpvp ttvrfvdsli cnssrsfmdl kallsslndf aslsfaeswd nvgllvepsp
       61 phtvntlflt ndlteevmee vlqkkadlil syhppifrpm kritwntwke rlviralenr
      121 vgiysphtay daapqgvnnw lakglgacts rpihpskapn yptegnhrve fnvnytqdld
      181 kvmsavkgid gvsvtsfsar tgneeqtrin lnctqkalmq vvdflsrnkq lyqkteilsl
      241 ekplllhtgm grlctldesv slatmidrik rhlklshirl algvgrtles qvkvvalcag
      301 sgssvlqgve adlyltgems hhdtldaasq ginvilcehs ntergflsdl rdmldshlen
      361 kiniilsetd rdplqvv
//
LOCUS       NP_001311157             311 aa            linear   PRI 25-DEC-2022
DEFINITION  stomatin-like protein 1 isoform 9 [Homo sapiens].
ACCESSION   NP_001311157
VERSION     NP_001311157.1
DBSOURCE    REFSEQ: accession NM_001324228.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 311)
  AUTHORS   Lapatsina L, Brand J, Poole K, Daumke O and Lewin GR.
  TITLE     Stomatin-domain proteins
  JOURNAL   Eur J Cell Biol 91 (4), 240-245 (2012)
   PUBMED   21501885
  REMARK    GeneRIF: [review] Stomatin family member STOML1 is oligomeric; it
            mostly localizes to membrane domains and has been shown to modulate
            ion channel activity.
            Review article
REFERENCE   2  (residues 1 to 311)
  AUTHORS   Zhang W, MacDonald EM and Koepp DM.
  TITLE     The stomatin-like protein SLP-1 and Cdk2 interact with the F-Box
            protein Fbw7-gamma
  JOURNAL   PLoS One 7 (10), e47736 (2012)
   PUBMED   23082202
REFERENCE   3  (residues 1 to 311)
  AUTHORS   Mairhofer M, Steiner M, Salzer U and Prohaska R.
  TITLE     Stomatin-like protein-1 interacts with stomatin and is targeted to
            late endosomes
  JOURNAL   J Biol Chem 284 (42), 29218-29229 (2009)
   PUBMED   19696025
  REMARK    GeneRIF: Stomatin-like protein-1 interacts with stomatin and is
            targeted to late endosomes
REFERENCE   4  (residues 1 to 311)
  AUTHORS   Gilles F, Glenn M, Goy A, Remache Y and Zelenetz AD.
  TITLE     A novel gene STORP (STOmatin-Related Protein) is localized 2 kb
            upstream of the promyelocytic gene on chromosome 15q22
  JOURNAL   Eur J Haematol 64 (2), 104-113 (2000)
   PUBMED   10997330
REFERENCE   5  (residues 1 to 311)
  AUTHORS   Seidel G and Prohaska R.
  TITLE     Molecular cloning of hSLP-1, a novel human brain-specific member of
            the band 7/MEC-2 family similar to Caenorhabditis elegans UNC-24
  JOURNAL   Gene 225 (1-2), 23-29 (1998)
   PUBMED   9931417
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC108137.8.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.68623.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..311
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     Protein         1..311
                     /product="stomatin-like protein 1 isoform 9"
                     /note="stomatin (EBP72)-like 1; stomatin-like protein 1;
                     EPB72-like 1; EPB72-like protein 1; protein unc-24
                     homolog; stomatin-related protein; stomatin (EPB72)-like
                     1"
                     /calculated_mol_wt=33398
     Region          7..137
                     /region_name="SPFH_SLP-1"
                     /note="Stomatin-like protein 1 (SLP-1), a subgroup of the
                     stomatin-like proteins (slipins) family; belonging to the
                     SPFH (stomatin, prohibitin, flotillin, and HflK/C)
                     superfamily; cd13436"
                     /db_xref="CDD:259814"
     Region          224..307
                     /region_name="SCP2"
                     /note="SCP-2 sterol transfer family; pfam02036"
                     /db_xref="CDD:426574"
     CDS             1..311
                     /gene="STOML1"
                     /gene_synonym="hUNC-24; SLP-1; STORP"
                     /coded_by="NM_001324228.2:212..1147"
                     /note="isoform 9 is encoded by transcript variant 10"
                     /db_xref="GeneID:9399"
                     /db_xref="HGNC:HGNC:14560"
                     /db_xref="MIM:608326"
ORIGIN      
        1 mivfrlgrir tpqgpgmvll lpfidsfqrv dlrtrafnvp pcklaskdga vlsvgadvqf
       61 riwdpvlsvm tvkdlntatr mtaqnamtka llkrplreiq meklkisdql lleindvtra
      121 wglevdrvel aveavlqppq dspagpnlds tlqqlalhfl ggsmnsmagg apspgpadtv
      181 emvseveppa pqvgarsspk qplaegllta lqpflsealv sqvgacyqfn vvlpsgtqsa
      241 yfldlttgrg rvghgvpdgi pdvvvemaea dlrallcrel rplgaymsgr lkvkgdlama
      301 mkleavlral k
//
LOCUS       NP_005249                 84 aa            linear   PRI 25-DEC-2022
DEFINITION  GTP cyclohydrolase 1 feedback regulatory protein [Homo sapiens].
ACCESSION   NP_005249
VERSION     NP_005249.1
DBSOURCE    REFSEQ: accession NM_005258.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 84)
  AUTHORS   Ebenhoch R, Bauer M, Reinert D, Kersting A, Huber S, Schmid A, Hinz
            I, Feiler M, Muller K and Nar H.
  TITLE     Biophysical and structural investigation of the regulation of human
            GTP cyclohydrolase I by its regulatory protein GFRP
  JOURNAL   J Struct Biol 213 (1), 107691 (2021)
   PUBMED   33387654
  REMARK    GeneRIF: Biophysical and structural investigation of the regulation
            of human GTP cyclohydrolase I by its regulatory protein GFRP.
REFERENCE   2  (residues 1 to 84)
  AUTHORS   Ebenhoch R, Prinz S, Kaltwasser S, Mills DJ, Meinecke R, Rubbelke
            M, Reinert D, Bauer M, Weixler L, Zeeb M, Vonck J and Nar H.
  TITLE     A hybrid approach reveals the allosteric regulation of GTP
            cyclohydrolase I
  JOURNAL   Proc Natl Acad Sci U S A 117 (50), 31838-31849 (2020)
   PUBMED   33229582
  REMARK    GeneRIF: A hybrid approach reveals the allosteric regulation of GTP
            cyclohydrolase I.
REFERENCE   3  (residues 1 to 84)
  AUTHORS   McHugh PC, Joyce PR, Deng X and Kennedy MA.
  TITLE     A polymorphism of the GTP-cyclohydrolase I feedback regulator gene
            alters transcriptional activity and may affect response to SSRI
            antidepressants
  JOURNAL   Pharmacogenomics J 11 (3), 207-213 (2011)
   PUBMED   20351752
  REMARK    GeneRIF: homozygous individuals for the TT haplotype were less
            likely to respond to the SSRI fluoxetine than to the nortriptyline
            suggesting a biological process through which GCHFR promoter
            variants might influence antidepressant response.
            GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (residues 1 to 84)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (residues 1 to 84)
  AUTHORS   Li L, Rezvan A, Salerno JC, Husain A, Kwon K, Jo H, Harrison DG and
            Chen W.
  TITLE     GTP cyclohydrolase I phosphorylation and interaction with GTP
            cyclohydrolase feedback regulatory protein provide novel regulation
            of endothelial tetrahydrobiopterin and nitric oxide
  JOURNAL   Circ Res 106 (2), 328-336 (2010)
   PUBMED   19926872
  REMARK    GeneRIF: Studies provide a new mechanism for regulation of
            endothelial GTPCH-1 by its phosphorylation and interplay with GFRP.
REFERENCE   6  (residues 1 to 84)
  AUTHORS   Werner ER, Bahrami S, Heller R and Werner-Felmayer G.
  TITLE     Bacterial lipopolysaccharide down-regulates expression of GTP
            cyclohydrolase I feedback regulatory protein
  JOURNAL   J Biol Chem 277 (12), 10129-10133 (2002)
   PUBMED   11799107
  REMARK    GeneRIF: Bacterial lipopolysaccharide down-regulates expression of
            GTP cyclohydrolase I feedback regulatory protein
REFERENCE   7  (residues 1 to 84)
  AUTHORS   Bader G, Schiffmann S, Herrmann A, Fischer M, Gutlich M, Auerbach
            G, Ploom T, Bacher A, Huber R and Lemm T.
  TITLE     Crystal structure of rat GTP cyclohydrolase I feedback regulatory
            protein, GFRP
  JOURNAL   J Mol Biol 312 (5), 1051-1057 (2001)
   PUBMED   11580249
  REMARK    GeneRIF: crystal structure
REFERENCE   8  (residues 1 to 84)
  AUTHORS   Yoneyama T, Brewer JM and Hatakeyama K.
  TITLE     GTP cyclohydrolase I feedback regulatory protein is a pentamer of
            identical subunits. Purification, cDNA cloning, and bacterial
            expression
  JOURNAL   J Biol Chem 272 (15), 9690-9696 (1997)
   PUBMED   9092499
REFERENCE   9  (residues 1 to 84)
  AUTHORS   Milstien S, Jaffe H, Kowlessur D and Bonner TI.
  TITLE     Purification and cloning of the GTP cyclohydrolase I feedback
            regulatory protein, GFRP
  JOURNAL   J Biol Chem 271 (33), 19743-19751 (1996)
   PUBMED   8702680
REFERENCE   10 (residues 1 to 84)
  AUTHORS   Hochstrasser DF, Frutiger S, Paquet N, Bairoch A, Ravier F,
            Pasquali C, Sanchez JC, Tissot JD, Bjellqvist B, Vargas R et al.
  TITLE     Human liver protein map: a reference database established by
            microsequencing and gel comparison
  JOURNAL   Electrophoresis 13 (12), 992-1001 (1992)
   PUBMED   1286669
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012476.8.
            
            Summary: GTP cyclohydrolase I feedback regulatory protein binds to
            and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase
            I. The regulatory protein, GCHFR, consists of a homodimer. It is
            postulated that GCHFR may play a role in regulating phenylalanine
            metabolism in the liver and in the production of biogenic amine
            neurotransmitters and nitric oxide. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK223430.1, SRR1163657.441672.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000260447.6/ ENSP00000260447.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..84
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     Protein         1..84
                     /product="GTP cyclohydrolase 1 feedback regulatory
                     protein"
                     /note="GTP cyclohydrolase I feedback regulatory protein"
                     /calculated_mol_wt=9567
     Region          3..83
                     /region_name="GFRP"
                     /note="GTP cyclohydrolase I feedback regulatory protein
                     (GFRP); pfam06399"
                     /db_xref="CDD:428919"
     CDS             1..84
                     /gene="GCHFR"
                     /gene_synonym="GFRP; HsT16933; P35"
                     /coded_by="NM_005258.3:114..368"
                     /db_xref="CCDS:CCDS10064.1"
                     /db_xref="GeneID:2644"
                     /db_xref="HGNC:HGNC:4194"
                     /db_xref="MIM:602437"
ORIGIN      
        1 mpyllistqi rmevgptmvg deqsdpelmq hlgaskrral gnnfyeyyvd dpprivldkl
       61 errgfrvlsm tgvgqtlvwc lhke
//
LOCUS       NP_076996                662 aa            linear   PRI 25-DEC-2022
DEFINITION  FAST kinase domain-containing protein 3, mitochondrial [Homo
            sapiens].
ACCESSION   NP_076996
VERSION     NP_076996.2
DBSOURCE    REFSEQ: accession NM_024091.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 662)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 662)
  AUTHORS   Jourdain AA, Popow J, de la Fuente MA, Martinou JC, Anderson P and
            Simarro M.
  TITLE     The FASTK family of proteins: emerging regulators of mitochondrial
            RNA biology
  JOURNAL   Nucleic Acids Res 45 (19), 10941-10947 (2017)
   PUBMED   29036396
  REMARK    GeneRIF: Despite the fact that proteins of the FASTK family
            FASTKD1-5 share the same domains, they exhibit various-sometimes
            opposing-functions in almost all steps of mitochondrial RNA
            metabolism.
            Review article
REFERENCE   3  (residues 1 to 662)
  AUTHORS   Boehm E, Zornoza M, Jourdain AA, Delmiro Magdalena A,
            Garcia-Consuegra I, Torres Merino R, Orduna A, Martin MA, Martinou
            JC, De la Fuente MA and Simarro M.
  TITLE     Role of FAST Kinase Domains 3 (FASTKD3) in Post-transcriptional
            Regulation of Mitochondrial Gene Expression
  JOURNAL   J Biol Chem 291 (50), 25877-25887 (2016)
   PUBMED   27789713
  REMARK    GeneRIF: FASTKD3 is required for efficient COX1 mRNA translation
            without altering mRNA levels, which results in a decrease in the
            steady-state levels of COX1 protein.
REFERENCE   4  (residues 1 to 662)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   5  (residues 1 to 662)
  AUTHORS   Simarro M, Gimenez-Cassina A, Kedersha N, Lazaro JB, Adelmant GO,
            Marto JA, Rhee K, Tisdale S, Danial N, Benarafa C, Orduna A and
            Anderson P.
  TITLE     Fast kinase domain-containing protein 3 is a mitochondrial protein
            essential for cellular respiration
  JOURNAL   Biochem Biophys Res Commun 401 (3), 440-446 (2010)
   PUBMED   20869947
  REMARK    GeneRIF: these results introduce FASTKD3 as an essential component
            of mitochondrial respiration that may modulate energy balance in
            cells exposed to adverse conditions by functionally coupling
            mitochondrial protein synthesis to respiration.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA297400.1, AK026927.1,
            BQ921348.1, BP317791.1 and BC001295.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 18, 2003 this sequence version replaced NP_076996.1.
            
            Summary: This gene encodes a member of a small family of
            Fas-activated serine/threonine kinase domain (FASTKD) containing
            proteins that share an amino terminal mitochondrial targeting
            domain and multiple carboxy terminal FAST domains as well as a
            putative RNA-binding RAP domain. The members of this family are
            ubiquitously expressed and are generally most abundant in
            mitochondria-enriched tissues such as heart, skeletal muscle and
            brown-adipose tissue. Some members of this protein family may play
            a role in apoptosis. The protein encoded by this gene interacts
            with components of the mitochondrial respiratory and translation
            networks. A pseudogene of this gene is also present on chromosome
            5. Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2013].
            
            Transcript Variant: This variant (1) is the longest transcript and
            encodes the protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK026927.1, SRR1660809.18992.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146236 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 20869947
            MANE Ensembl match                 :: ENST00000264669.10/
                                                  ENSP00000264669.5
            RefSeq Select criteria             :: based on conservation,
                                                  longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..662
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.31"
     Protein         1..662
                     /product="FAST kinase domain-containing protein 3,
                     mitochondrial"
                     /calculated_mol_wt=75559
     Region          408..479
                     /region_name="FAST_1"
                     /note="FAST kinase-like protein, subdomain 1; pfam06743"
                     /db_xref="CDD:429093"
     Region          490..580
                     /region_name="FAST_2"
                     /note="FAST kinase-like protein, subdomain 2; pfam08368"
                     /db_xref="CDD:429950"
     Region          593..650
                     /region_name="RAP"
                     /note="This domain is found in various eukaryotic species,
                     particularly in apicomplexans; smart00952"
                     /db_xref="CDD:214932"
     CDS             1..662
                     /gene="FASTKD3"
                     /coded_by="NM_024091.4:167..2155"
                     /db_xref="CCDS:CCDS3873.1"
                     /db_xref="GeneID:79072"
                     /db_xref="HGNC:HGNC:28758"
                     /db_xref="MIM:617530"
ORIGIN      
        1 malitlrknl yrlsdfqmhr alaalknkpl nhvhkvvker lcpwlcsrqp epfgvkfhha
       61 hckkfhskng ndlhplggpv fsqvsdcdrl eqnvkneesq mfyrrlsnlt sseevlsfis
      121 tmetlpdtma agalqricev ekkdgdqglp keilensifq alcfqfekep sqlsntslvt
      181 alqalillhv dpqsslllnl vaecqnrlrk ggmevrnlci lgeslitlhs sgcvtlelii
      241 nqlqgeklet ftpedivaly rilqactekv dehqtflnki nnfslsivsn lspklisqml
      301 talvvldqsq afpliiklgk yvvrhvphft neelrrvlea fiyfghhdtf ftkalehrva
      361 avcltldpev vcrvmeycsr elilskpiln avaetfvcqt ekfsprqisa lmepfgklny
      421 lppnasalfr klenvlfthf nyfppksllk llhscslnec hpvnflakif kplflqrlqg
      481 keshldtlsr aqltqlflas vlecpfykgp kllpkyqvks fltpccslet pvdsqlyryv
      541 kigltnllga rlyfapkvlt pycytidvei kldeegfvlp stanedihkr ialcidgpkr
      601 fcsnskhllg keaikqrhlq llgyqvvqip yheigmlksr relveylqrk lfsqntvhwl
      661 qe
//
LOCUS       NP_872401                296 aa            linear   PRI 25-DEC-2022
DEFINITION  POM121-like protein 12 [Homo sapiens].
ACCESSION   NP_872401
VERSION     NP_872401.3
DBSOURCE    REFSEQ: accession NM_182595.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 296)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC074397.7, BI826445.1 and BX104052.1.
            On Jun 10, 2009 this sequence version replaced NP_872401.2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000408890.6/ ENSP00000386133.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..296
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p12.1"
     Protein         1..296
                     /product="POM121-like protein 12"
                     /note="POM121 membrane glycoprotein-like 12"
                     /calculated_mol_wt=31717
     Region          1..54
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7R1.3)"
     Region          142..162
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7R1.3)"
     Region          193..>240
                     /region_name="POM121"
                     /note="POM121 family; pfam15229"
                     /db_xref="CDD:434551"
     CDS             1..296
                     /gene="POM121L12"
                     /coded_by="NM_182595.4:40..930"
                     /db_xref="CCDS:CCDS43584.1"
                     /db_xref="GeneID:285877"
                     /db_xref="HGNC:HGNC:25369"
ORIGIN      
        1 mgaaapaesa dlgnfwkage pllqgpdala apmsrspstp qttpspqgrq spwplrsltq
       61 shiqyfqwgr pvpsthliev rptqdpakpq rvvsegwrrp alpgetalgr dlscawegcm
      121 kgglcrawnp grtwspvtig iapperqesp wrspgqrarp agrpaaqell dpctretllg
      181 alsqcpkgsa rfdgplwfev sdskggrrnl qprpsafkpl skngavasfv prpgplkpsl
      241 gpwslsfcdd awpsvlvqpa psaiwdfwea ttpscgscsr vsfalevtqs agpfgs
//
LOCUS       NP_001278035             464 aa            linear   PRI 26-DEC-2022
DEFINITION  CUGBP Elav-like family member 3 isoform 4 [Homo sapiens].
ACCESSION   NP_001278035 XP_005244916
VERSION     NP_001278035.1
DBSOURCE    REFSEQ: accession NM_001291106.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 464)
  AUTHORS   Zhou B and Guo R.
  TITLE     Integrative analysis of significant RNA-binding proteins in
            colorectal cancer metastasis
  JOURNAL   J Cell Biochem 119 (12), 9730-9741 (2018)
   PUBMED   30132996
  REMARK    GeneRIF: CELF3 expression is associated with colorectal cancer
            metastasis.
REFERENCE   2  (residues 1 to 464)
  AUTHORS   Ishizuka A, Hasegawa Y, Ishida K, Yanaka K and Nakagawa S.
  TITLE     Formation of nuclear bodies by the lncRNA Gomafu-associating
            proteins Celf3 and SF1
  JOURNAL   Genes Cells 19 (9), 704-721 (2014)
   PUBMED   25145264
  REMARK    GeneRIF: Gomafu indirectly modulates the function of the splicing
            factors SF1 and Celf3 by sequestering these proteins into separate
            nuclear bodies.
REFERENCE   3  (residues 1 to 464)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (residues 1 to 464)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 464)
  AUTHORS   Chapple JP, Anthony K, Martin TR, Dev A, Cooper TA and Gallo JM.
  TITLE     Expression, localization and tau exon 10 splicing activity of the
            brain RNA-binding protein TNRC4
  JOURNAL   Hum Mol Genet 16 (22), 2760-2769 (2007)
   PUBMED   17725984
REFERENCE   6  (residues 1 to 464)
  AUTHORS   Wang J, Gao QS, Wang Y, Lafyatis R, Stamm S and Andreadis A.
  TITLE     Tau exon 10, whose missplicing causes frontotemporal dementia, is
            regulated by an intricate interplay of cis elements and trans
            factors
  JOURNAL   J Neurochem 88 (5), 1078-1090 (2004)
   PUBMED   15009664
REFERENCE   7  (residues 1 to 464)
  AUTHORS   Ladd AN, Charlet N and Cooper TA.
  TITLE     The CELF family of RNA binding proteins is implicated in
            cell-specific and developmentally regulated alternative splicing
  JOURNAL   Mol Cell Biol 21 (4), 1285-1296 (2001)
   PUBMED   11158314
REFERENCE   8  (residues 1 to 464)
  AUTHORS   Good PJ, Chen Q, Warner SJ and Herring DC.
  TITLE     A family of human RNA-binding proteins related to the Drosophila
            Bruno translational regulator
  JOURNAL   J Biol Chem 275 (37), 28583-28592 (2000)
   PUBMED   10893231
REFERENCE   9  (residues 1 to 464)
  AUTHORS   Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel
            TS, Stine OC, Callahan C, McInnis MG and Ross CA.
  TITLE     cDNAs with long CAG trinucleotide repeats from human brain
  JOURNAL   Hum Genet 100 (1), 114-122 (1997)
   PUBMED   9225980
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL589765.19 and KF455029.1.
            On Mar 26, 2014 this sequence version replaced XP_005244916.1.
            
            Summary: Members of the CELF/BRUNOL protein family contain two
            N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM
            domain, and a divergent segment of 160-230 aa between the second
            and third RRM domains. Members of this protein family regulate
            pre-mRNA alternative splicing and may also be involved in mRNA
            editing, and translation. Multiple alternatively spliced transcript
            variants encoding different isoforms have been identified in this
            gene. [provided by RefSeq, Feb 2010].
            
            Transcript Variant: This variant (4) uses an alternate in-frame
            splice site in the coding region, compared to variant 1. The
            encoded protein (isoform 4) is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC052491.1, SRR3476690.165610.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..464
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..464
                     /product="CUGBP Elav-like family member 3 isoform 4"
                     /note="expanded repeat domain, CAG/CTG 4; CAG repeat
                     domain; trinucleotide repeat containing 4; CUG-BP- and
                     ETR-3-like factor 3; CAG repeat protein 4; bruno-like
                     protein 1; RNA-binding protein BRUNOL-1; ELAV-type
                     RNA-binding protein 1; expanded repeat domain protein
                     CAG/CTG 4; trinucleotide repeat-containing gene 4 protein"
                     /calculated_mol_wt=50346
     Region          2..88
                     /region_name="RRM1_CELF3_4_5_6"
                     /note="RNA recognition motif 1 (RRM1) found in CUGBP
                     Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and
                     similar proteins; cd12632"
                     /db_xref="CDD:410041"
     Site            order(8,10,12..13,16,35,37,39,48..50,52,82,84)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410041"
     Region          94..174
                     /region_name="RRM2_CELF3_4_5_6"
                     /note="RNA recognition motif 2 (RRM2) found in CUGBP
                     Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and
                     similar proteins; cd12635"
                     /db_xref="CDD:410043"
     Site            order(96,98,100..101,104,123,125,127,135..137,139,169,171)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410043"
     Region          <214..>350
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     Region          345..378
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SZQ8.1)"
     Region          375..453
                     /region_name="RRM3_CELF3_4_5_6"
                     /note="RNA recognition motif 2 (RRM2) found in CUGBP
                     Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and
                     similar proteins; cd12639"
                     /db_xref="CDD:241083"
     CDS             1..464
                     /gene="CELF3"
                     /gene_synonym="BRUNOL1; CAGH4; ERDA4; ETR-1; TNRC4"
                     /coded_by="NM_001291106.2:784..2178"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:11189"
                     /db_xref="HGNC:HGNC:11967"
                     /db_xref="MIM:612678"
ORIGIN      
        1 mkepdaiklf vgqiprhlee kdlkpifeqf grifeltvik dkytglhkgc afltycards
       61 alkaqsalhe qktlpgmnrp iqvkpadses rgedrklfvg mlgkqqtded vrkmfepfgt
      121 idectvlrgp dgtskgcafv kfqthaeaqa aintlhssrt lpgassslvv kfadtekerg
      181 lrrmqqvatq lgmfspialq fgaysaytqa lmqqqaalva ahsaylspma tmaavqmqhm
      241 aainanglia tpitpssgts tppaiaatpv saipaalgvn gyspvptqpt gqpapdalyp
      301 ngvhpypaqs paapvdplqq ayagmqhyta ypaayslvap afpqppalva qqpppppqqq
      361 qqqqqqqqqq qqregpdgcn ifiyhlpqef tdseilqmfv pfghvisakv fvdratnqsk
      421 cfgfvsfdnp asaqaaiqam ngfqigmkrl kvqlkrpkda nrpy
//
LOCUS       NP_006648                541 aa            linear   PRI 26-DEC-2022
DEFINITION  formimidoyltransferase-cyclodeaminase isoform A [Homo sapiens].
ACCESSION   NP_006648
VERSION     NP_006648.1
DBSOURCE    REFSEQ: accession NM_006657.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 541)
  AUTHORS   Kaneko Y, Shimoda K, Ayala R, Goto Y, Panico S, Zhang X and Kondo
            H.
  TITLE     p97 and p47 function in membrane tethering in cooperation with FTCD
            during mitotic Golgi reassembly
  JOURNAL   EMBO J 40 (9), e105853 (2021)
   PUBMED   33555040
  REMARK    GeneRIF: p97 and p47 function in membrane tethering in cooperation
            with FTCD during mitotic Golgi reassembly.
REFERENCE   2  (residues 1 to 541)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 541)
  AUTHORS   Labib OH, Harb OA, Khalil OH, Baiomy TA, Gertallah LM and Ahmed RZ.
  TITLE     The Diagnostic Value of Arginase-1, FTCD, and MOC-31 Expression in
            Early Detection of Hepatocellular Carcinoma (HCC) and in
            Differentiation Between HCC and Metastatic Adenocarcinoma to the
            Liver
  JOURNAL   J Gastrointest Cancer 51 (1), 88-101 (2020)
   PUBMED   30784016
  REMARK    GeneRIF: The Diagnostic Value of Arginase-1, FTCD, and MOC-31
            Expression in Early Detection of Hepatocellular Carcinoma (HCC) and
            in Differentiation Between HCC and Metastatic Adenocarcinoma to the
            Liver.
REFERENCE   4  (residues 1 to 541)
  AUTHORS   Pierce BL, Tong L, Dean S, Argos M, Jasmine F, Rakibuz-Zaman M,
            Sarwar G, Islam MT, Shahriar H, Islam T, Rahman M, Yunus M, Lynch
            VJ, Oglesbee D, Graziano JH, Kibriya MG, Gamble MV and Ahsan H.
  TITLE     A missense variant in FTCD is associated with arsenic metabolism
            and toxicity phenotypes in Bangladesh
  JOURNAL   PLoS Genet 15 (3), e1007984 (2019)
   PUBMED   30893314
  REMARK    GeneRIF: the minor allele (A) of rs61735836 (p.Val101Met) in exon 3
            of FTCD was associated with increased urinary Inorganic arsenics %
            (P = 8x10-13), increased mono-methylated arsenic % (P = 2x10-16)
            and decreased di-methylated arsenic % (P = 6x10-23).
            Erratum:[PLoS Genet. 2019 May 20;15(5):e1008172. PMID: 31107898]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 541)
  AUTHORS   Greenwood PM, Schmidt K, Lin MK, Lipsky R, Parasuraman R and
            Jankord R.
  TITLE     A functional promoter variant of the human formimidoyltransferase
            cyclodeaminase (FTCD) gene is associated with working memory
            performance in young but not older adults
  JOURNAL   Neuropsychology 32 (8), 973-984 (2018)
   PUBMED   29927301
  REMARK    GeneRIF: The rs914246 variant, but not the rs914245 variant, of the
            FTCD gene modulated accuracy in the task for younger, but not
            older, people under high working memory
REFERENCE   6  (residues 1 to 541)
  AUTHORS   Renous R, Lapierre P, Djilali-Saiah I, Vitozzi S and Alvarez F.
  TITLE     Characterization of the antigenicity of the
            formiminotransferase-cyclodeaminase in type 2 autoimmune hepatitis
  JOURNAL   Exp Cell Res 292 (2), 332-341 (2004)
   PUBMED   14697341
REFERENCE   7  (residues 1 to 541)
  AUTHORS   Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna
            S, Estivill X, MacKenzie RE, Hudson TJ and Rosenblatt DS.
  TITLE     The molecular basis of glutamate formiminotransferase deficiency
  JOURNAL   Hum Mutat 22 (1), 67-73 (2003)
   PUBMED   12815595
  REMARK    GeneRIF: Disease-causing mutations have been identified in the FTCD
            gene in three patients with the putative autosomal recessive
            disorder glutamate formiminotransferase deficiency.
            Erratum:[Hum Mutat. 2003 Nov;22(5):416]
REFERENCE   8  (residues 1 to 541)
  AUTHORS   Solans A, Estivill X and de la Luna S.
  TITLE     Cloning and characterization of human FTCD on 21q22.3, a candidate
            gene for glutamate formiminotransferase deficiency
  JOURNAL   Cytogenet Cell Genet 88 (1-2), 43-49 (2000)
   PUBMED   10773664
REFERENCE   9  (residues 1 to 541)
  AUTHORS   Lapierre P, Hajoui O, Homberg JC and Alvarez F.
  TITLE     Formiminotransferase cyclodeaminase is an organ-specific
            autoantigen recognized by sera of patients with autoimmune
            hepatitis
  JOURNAL   Gastroenterology 116 (3), 643-649 (1999)
   PUBMED   10029623
REFERENCE   10 (residues 1 to 541)
  AUTHORS   Hennig D, Scales SJ, Moreau A, Murley LL, De Mey J and Kreis TE.
  TITLE     A formiminotransferase cyclodeaminase isoform is localized to the
            Golgi complex and can mediate interaction of trans-Golgi
            network-derived vesicles with microtubules
  JOURNAL   J Biol Chem 273 (31), 19602-19611 (1998)
   PUBMED   9677386
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001468.1, AF289021.1,
            BI966164.1 and BC052248.1.
            
            Summary: The protein encoded by this gene is a bifunctional enzyme
            that channels 1-carbon units from formiminoglutamate, a metabolite
            of the histidine degradation pathway, to the folate pool. Mutations
            in this gene are associated with glutamate formiminotransferase
            deficiency. Alternatively spliced transcript variants have been
            found for this gene.[provided by RefSeq, Dec 2009].
            
            Transcript Variant: This variant (B) differs in the 3' UTR compared
            to variant A. Variants A and B encode the same protein (isoform A).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138522.1453163.1, BC052248.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2162895
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..541
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..541
                     /product="formimidoyltransferase-cyclodeaminase isoform A"
                     /EC_number="2.1.2.5"
                     /EC_number="4.3.1.4"
                     /note="formiminotransferase-cyclodeaminase"
                     /calculated_mol_wt=58796
     Region          1..328
                     /region_name="FtcD"
                     /note="glutamate formiminotransferase; TIGR02024"
                     /db_xref="CDD:131079"
     Region          1..181
                     /region_name="Formiminotransferase N-subdomain.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (O95954.2)"
     Region          182..326
                     /region_name="Formiminotransferase C-subdomain.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (O95954.2)"
     Site            316
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O95954.2)"
     Region          327..334
                     /region_name="Linker. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (O95954.2)"
     Region          335..541
                     /region_name="Cyclodeaminase/cyclohydrolase.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (O95954.2)"
     Region          370..520
                     /region_name="FTCD_C"
                     /note="Formiminotransferase-cyclodeaminase; pfam04961"
                     /db_xref="CDD:428223"
     Site            386
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O95954.2)"
     Site            520
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O88618; propagated from
                     UniProtKB/Swiss-Prot (O95954.2)"
     CDS             1..541
                     /gene="FTCD"
                     /gene_synonym="LCHC1"
                     /coded_by="NM_006657.3:57..1682"
                     /note="isoform A is encoded by transcript variant B"
                     /db_xref="CCDS:CCDS13731.1"
                     /db_xref="GeneID:10841"
                     /db_xref="HGNC:HGNC:3974"
                     /db_xref="MIM:606806"
ORIGIN      
        1 msqlvecvpn fsegknqevi daisgaitqt pgcvlldvda gpstnrtvyt fvgppecvve
       61 galnaarvas rlidmsrhqg ehprmgaldv cpfipvrgvs vdecvlcaqa fgqrlaeeld
      121 vpvylygeaa rmdsrrtlpa irageyealp kklqqadwap dfgpssfvps wgatatgark
      181 fliafninll gtkeqahria lnlreqgrgk dqpgrlkkvq gigwyldekn laqvstnlld
      241 fevtalhtvy eetcreaqel slpvvgsqlv glvplkalld aaafyceken lfileeeqri
      301 rlvvsrlgld slcpfspker iieylvperg perglgsksl rafvgevgar saapgggsva
      361 aaaaamgaal gsmvglmtyg rrqfqsldtt mrrlippfre asaklttlvd adaeaftayl
      421 eamrlpkntp eekdrrtaal qeglrravsv pltlaetvas lwpalqelar cgnlacrsdl
      481 qvaakalemg vfgayfnvli nlrditdeaf kdqihhrvss llqeaktqaa lvldcletrq
      541 e
//
LOCUS       NP_001316735             545 aa            linear   PRI 26-DEC-2022
DEFINITION  pleckstrin homology domain-containing family G member 1 isoform f
            [Homo sapiens].
ACCESSION   NP_001316735
VERSION     NP_001316735.1
DBSOURCE    REFSEQ: accession NM_001329806.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 545)
  AUTHORS   Traylor M, Tozer DJ, Croall ID, Lisiecka-Ford DM, Olorunda AO,
            Boncoraglio G, Dichgans M, Lemmens R, Rosand J, Rost NS, Rothwell
            PM, Sudlow CLM, Thijs V, Rutten-Jacobs L and Markus HS.
  CONSRTM   International Stroke Genetics Consortium
  TITLE     Genetic variation in PLEKHG1 is associated with white matter
            hyperintensities (n = 11,226)
  JOURNAL   Neurology 92 (8), e749-e757 (2019)
   PUBMED   30659137
  REMARK    GeneRIF: Genetic variation in PLEKHG1 is associated with white
            matter hyperintensities and ischemic stroke, most strongly with the
            small vessel subtype, suggesting it acts by promoting small vessel
            arteriopathy.
            Erratum:[Neurology. 2019 Sep 24;93(13):608. PMID: 31551276]
REFERENCE   2  (residues 1 to 545)
  AUTHORS   Gray KJ, Kovacheva VP, Mirzakhani H, Bjonnes AC, Almoguera B, DeWan
            AT, Triche EW, Saftlas AF, Hoh J, Bodian DL, Klein E, Huddleston
            KC, Ingles SA, Lockwood CJ, Hakonarson H, McElrath TF, Murray JC,
            Wilson ML, Norwitz ER, Karumanchi SA, Bateman BT, Keating BJ and
            Saxena R.
  TITLE     Gene-Centric Analysis of Preeclampsia Identifies Maternal
            Association at PLEKHG1
  JOURNAL   Hypertension 72 (2), 408-416 (2018)
   PUBMED   29967039
  REMARK    GeneRIF: PLEKHG1 rs9478812 variant substantially increases risk of
            preeclampsia.
REFERENCE   3  (residues 1 to 545)
  AUTHORS   Lei SF, Papasian CJ and Deng HW.
  TITLE     Polymorphisms in predicted miRNA binding sites and osteoporosis
  JOURNAL   J Bone Miner Res 26 (1), 72-78 (2011)
   PUBMED   20641033
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL450339.5 and AL035086.12.
            
            Transcript Variant: This variant (10), as well as variants 8 and 9,
            encodes isoform f.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.98729.1,
                                           SRR1803616.5827.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..545
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1"
     Protein         1..545
                     /product="pleckstrin homology domain-containing family G
                     member 1 isoform f"
                     /note="pleckstrin homology domain containing, family G
                     (with RhoGef domain) member 1"
                     /calculated_mol_wt=61671
     Region          1..31
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULL1.2)"
     Region          63..101
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULL1.2)"
     Region          117..291
                     /region_name="RhoGEF"
                     /note="RhoGEF domain; pfam00621"
                     /db_xref="CDD:425783"
     Site            order(120,124,216,242..243,246..247,249..250,253..254,
                     257..258,261,287,291)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          273..418
                     /region_name="PH_PLEKHG1_G2_G3"
                     /note="Pleckstrin homology domain-containing family G
                     members 1, 2, and 3 pleckstrin homology (PH) domain;
                     cd13243"
                     /db_xref="CDD:270063"
     Region          455..518
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULL1.2)"
     CDS             1..545
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /coded_by="NM_001329806.2:201..1838"
                     /note="isoform f is encoded by transcript variant 10"
                     /db_xref="GeneID:57480"
                     /db_xref="HGNC:HGNC:20884"
                     /db_xref="MIM:620134"
ORIGIN      
        1 melsdsdrpv sfgstsssas srdshgsfgs rmtlvsnshm glfnqdkevg aiklelipar
       61 pfssselqrd npatgqqnad egserppraq wrvdsngapk tiadsatspk llyvdrvvqe
      121 iletertyvq dlksivedyl dcirdqtklp lgteersalf gniqdiyhfn sellqdlenc
      181 endpvaiaec fvskseefhi ytqyctnypr svavltecmr nkilakffre rqetlkhslp
      241 lgsyllkpvq rilkyhlllh eienhldkdt egydvvldai dtmqrvawhi ndmkrkheha
      301 vrlqeiqsll tnwkgpdlts ygelvlegtf riqraknert lflfdkllli tkkrddtfty
      361 kahilcgnlm lvevipkepl sfsvfhyknp klqhtvqaks qqdkrlwvlh lkrlilenha
      421 akipakakqa ilemdaihhp gfcyspeggt kalfgskegs apyrlrrkse pssrshkvlk
      481 tsetaqdiqk vsreegspql ssarpspaqr nsqpssstmi svlraggalr niwtdhqist
      541 tfgng
//
LOCUS       NP_001363290             810 aa            linear   PRI 28-DEC-2022
DEFINITION  zinc finger CCCH domain-containing protein 11A isoform 1 [Homo
            sapiens].
ACCESSION   NP_001363290
VERSION     NP_001363290.1
DBSOURCE    REFSEQ: accession NM_001376361.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 810)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 810)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   3  (residues 1 to 810)
  AUTHORS   Younis S, Kamel W, Falkeborn T, Wang H, Yu D, Daniels R, Essand M,
            Hinkula J, Akusjarvi G and Andersson L.
  TITLE     Multiple nuclear-replicating viruses require the stress-induced
            protein ZC3H11A for efficient growth
  JOURNAL   Proc Natl Acad Sci U S A 115 (16), E3808-E3816 (2018)
   PUBMED   29610341
  REMARK    GeneRIF: Knockout of ZC3H11A in HeLa cells demonstrated that
            several nuclear-replicating viruses are dependent on ZC3H11A for
            efficient growth whereas cytoplasmic replicating viruses are not.
            ZC3H11A binds to short purine-rich ribonucleotide stretches in
            cellular and adenoviral transcripts. ZC3H11A is important for
            maintaining nuclear export of mRNAs during stress. Several
            nuclear-replicating viruses take advantage of this.
REFERENCE   4  (residues 1 to 810)
  AUTHORS   Daakour S, Hajingabo LJ, Kerselidou D, Devresse A, Kettmann R,
            Simonis N, Dequiedt F and Twizere JC.
  TITLE     Systematic interactome mapping of acute lymphoblastic leukemia
            cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and
            FBWX7 common interactor
  JOURNAL   BMC Cancer 16, 335 (2016)
   PUBMED   27229929
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 810)
  AUTHORS   Li X, Wang W, Wang J, Malovannaya A, Xi Y, Li W, Guerra R, Hawke
            DH, Qin J and Chen J.
  TITLE     Proteomic analyses reveal distinct chromatin-associated and soluble
            transcription factor complexes
  JOURNAL   Mol Syst Biol 11 (1), 775 (2015)
   PUBMED   25609649
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 810)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (residues 1 to 810)
  AUTHORS   Venkatesan K, Rual JF, Vazquez A, Stelzl U, Lemmens I,
            Hirozane-Kishikawa T, Hao T, Zenkner M, Xin X, Goh KI, Yildirim MA,
            Simonis N, Heinzmann K, Gebreab F, Sahalie JM, Cevik S, Simon C, de
            Smet AS, Dann E, Smolyar A, Vinayagam A, Yu H, Szeto D, Borick H,
            Dricot A, Klitgord N, Murray RR, Lin C, Lalowski M, Timm J, Rau K,
            Boone C, Braun P, Cusick ME, Roth FP, Hill DE, Tavernier J, Wanker
            EE, Barabasi AL and Vidal M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
REFERENCE   8  (residues 1 to 810)
  AUTHORS   Beausoleil SA, Villen J, Gerber SA, Rush J and Gygi SP.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
REFERENCE   9  (residues 1 to 810)
  AUTHORS   Nousiainen M, Sillje HH, Sauer G, Nigg EA and Korner R.
  TITLE     Phosphoproteome analysis of the human mitotic spindle
  JOURNAL   Proc Natl Acad Sci U S A 103 (14), 5391-5396 (2006)
   PUBMED   16565220
REFERENCE   10 (residues 1 to 810)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC114402.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.22450.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..810
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     Protein         1..810
                     /product="zinc finger CCCH domain-containing protein 11A
                     isoform 1"
                     /note="zinc finger CCCH-type domain containing 11A; zinc
                     finger CCCH domain-containing protein 11A"
                     /calculated_mol_wt=89000
     Region          1..110
                     /region_name="zf-CCCH_3"
                     /note="Zinc-finger containing family; pfam15663"
                     /db_xref="CDD:434838"
     Site            108
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75152.3)"
     Site            132
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O75152.3)"
     Region          139..194
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75152.3)"
     Site            149
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75152.3)"
     Site            171
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75152.3)"
     Region          223..258
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75152.3)"
     Region          285..351
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75152.3)"
     Site            290
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O75152.3)"
     Site            321
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75152.3)"
     Region          367..432
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75152.3)"
     Site            370
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75152.3)"
     Region          482..549
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75152.3)"
     Region          715..768
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75152.3)"
     CDS             1..810
                     /gene="ZC3H11A"
                     /gene_synonym="ZC3HDC11A"
                     /coded_by="NM_001376361.1:894..3326"
                     /note="isoform 1 is encoded by transcript variant 37"
                     /db_xref="CCDS:CCDS30978.1"
                     /db_xref="GeneID:9877"
                     /db_xref="HGNC:HGNC:29093"
                     /db_xref="MIM:613513"
ORIGIN      
        1 mpnqgedcyf ffystctkgd scpfrhceaa ignetvctlw qegrcfrqvc rfrhmeidkk
       61 rseipcywen qptgcqklnc afhhnrgryv dglflppskt vlptvpespe eevkasqlsv
      121 qqnklsvqsn pspqlrsvmk vessenvpsp thppvvinaa dddeddddqf seegdetktp
      181 tlqptpevhn glrvtsvrkp avnikqgecl nfgiktleei kskkmkeksk kqgegssgvs
      241 slllhpepvp gpekenvrtv vrtvtlstkq geeplvrlsl terlgkrkfs aggdsdpplk
      301 rslaqrlgkk veapetnidk tpkkaqvsks lkerlgmsad pdnedatdkv nkvgeihvkt
      361 leeilleras qkrgelqtkl ktegpsktdd stsgarssst iriktfsevl aekkhrqqea
      421 erqkskkdtt ciklkidsei kktvvlppiv asrgqseepa gktksmqevh iktleeikle
      481 kalrvqqsse sstsspsqhe atpgarrllr itkrtgmkee knlqegnevd sqssirteak
      541 easgettgvd itkiqvkrce tmrekhmqkq qereksvltp lrgdvascnt qvaekpvlta
      601 vpgitrhltk rlptkssqkv evetsgigds llnvkcaaqt lekrgkakpk vnvkpsvvkv
      661 vsspklapkr kavemhaavi aavkplssss vlqeppakka avavvplvse dksvtvpeae
      721 nprdslvlpp tqsssdsspp evsgpsssqm smktrrlssa stgkpplsve ddfekliwei
      781 sggkleaeid ldpgkdeddl llelsemids
//
LOCUS       NP_001073152             286 aa            linear   PRI 28-DEC-2022
DEFINITION  putative monooxygenase p33MONOX isoform b [Homo sapiens].
ACCESSION   NP_001073152
VERSION     NP_001073152.1
DBSOURCE    REFSEQ: accession NM_001079684.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 286)
  AUTHORS   Xu Z, Sun Y, Jiang J and Liu P.
  TITLE     The role of KIAA1191 in the necroptotic pathway of multiple myeloma
  JOURNAL   Ann Hematol 101 (2), 359-367 (2022)
   PUBMED   34989828
  REMARK    GeneRIF: The role of KIAA1191 in the necroptotic pathway of
            multiple myeloma.
REFERENCE   2  (residues 1 to 286)
  AUTHORS   Mishra M, Inoue N and Heese K.
  TITLE     Characterizing the novel protein p33MONOX
  JOURNAL   Mol Cell Biochem 350 (1-2), 127-134 (2011)
   PUBMED   21153684
  REMARK    GeneRIF: p33MONOX might regulate pre- and post-transcriptional
            control of dynamic processes related to growth cone guidance.
REFERENCE   3  (residues 1 to 286)
  AUTHORS   Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
            Safari A, Liu D and Songyang Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   4  (residues 1 to 286)
  AUTHORS   Satoh J, Obayashi S, Misawa T, Sumiyoshi K, Oosumi K and Tabunoki
            H.
  TITLE     Protein microarray analysis identifies human cellular prion protein
            interactors
  JOURNAL   Neuropathol Appl Neurobiol 35 (1), 16-35 (2009)
   PUBMED   18482256
REFERENCE   5  (residues 1 to 286)
  AUTHORS   Yokota T, Mishra M, Akatsu H, Tani Y, Miyauchi T, Yamamoto T,
            Kosaka K, Nagai Y, Sawada T and Heese K.
  TITLE     Brain site-specific gene expression analysis in Alzheimer's disease
            patients
  JOURNAL   Eur J Clin Invest 36 (11), 820-830 (2006)
   PUBMED   17032350
REFERENCE   6  (residues 1 to 286)
  AUTHORS   Zuhlke C, Kiehl R, Johannsmeyer A, Grzeschik KH and Schwinger E.
  TITLE     Isolation and characterization of novel CAG repeat containing genes
            expressed in human brain
  JOURNAL   DNA Seq 10 (1), 1-6 (1999)
   PUBMED   10565538
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL390217.1, BC017097.1 and AA569811.1.
            
            Transcript Variant: This variant (2) lacks part of the 5' coding
            region and initiates translation at a downstream start codon,
            compared to variant 1. The encoded isoform (b) has a shorter
            N-terminus, compared to isoform a. Both variants 2 and 5 encode the
            same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL390217.1, SRR14038197.2090416.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..286
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.2"
     Protein         1..286
                     /product="putative monooxygenase p33MONOX isoform b"
                     /note="brain-derived rescue factor p60MONOX; flavine
                     monooxygenase motif-containing protein of 33 kDa; putative
                     monooxygenase p33MONOX; flavin monooxygenase
                     motif-containing protein of 33 kDa; p60MONOX brain-derived
                     rescue factor"
                     /calculated_mol_wt=31181
     Region          1..286
                     /region_name="P33MONOX"
                     /note="P33 mono-oxygenase; pfam15302"
                     /db_xref="CDD:434612"
     CDS             1..286
                     /gene="KIAA1191"
                     /gene_synonym="p33MONOX; p60MONOX"
                     /coded_by="NM_001079684.3:301..1161"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS43402.1"
                     /db_xref="GeneID:57179"
                     /db_xref="HGNC:HGNC:29209"
ORIGIN      
        1 mslpigiyrr avsyddtled papmtpppsd mgsvpwkpvi perkyqhlak veegeaslps
       61 pamtlssaid svdkvpvvka kathvimnsl itkqtqesiq hferqaglrd agytphkglt
      121 teetkylrva ealhklklqs gevtkeerqp asaqstpstt phsspkqrpr gwftsgssta
      181 lpgpnpstmd sgsgdkdrnl sdkwslfgpr slqkydsgsf atqayrgaqk pspleliraq
      241 anrmaedpaa lkppkmdipv megkkqppra hnlkprdlnv ltptgf
//
LOCUS       NP_115571               2303 aa            linear   PRI 29-DEC-2022
DEFINITION  protein SON isoform B [Homo sapiens].
ACCESSION   NP_115571
VERSION     NP_115571.3
DBSOURCE    REFSEQ: accession NM_032195.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2303)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (residues 1 to 2303)
  AUTHORS   Kim JH, Jeong K, Li J, Murphy JM, Vukadin L, Stone JK, Richard A,
            Tran J, Gillespie GY, Flemington EK, Sobol RW, Lim SS and Ahn EE.
  TITLE     SON drives oncogenic RNA splicing in glioblastoma by regulating
            PTBP1/PTBP2 switching and RBFOX2 activity
  JOURNAL   Nat Commun 12 (1), 5551 (2021)
   PUBMED   34548489
  REMARK    GeneRIF: SON drives oncogenic RNA splicing in glioblastoma by
            regulating PTBP1/PTBP2 switching and RBFOX2 activity.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 2303)
  AUTHORS   Ohler U, Shomron N and Burge CB.
  TITLE     Recognition of unknown conserved alternatively spliced exons
  JOURNAL   PLoS Comput Biol 1 (2), 113-122 (2005)
   PUBMED   16110330
REFERENCE   4  (residues 1 to 2303)
  AUTHORS   Casadei R, Strippoli P, D'Addabbo P, Canaider S, Lenzi L, Vitale L,
            Giannone S, Frabetti F, Facchin F, Carinci P and Zannotti M.
  TITLE     mRNA 5' region sequence incompleteness: a potential source of
            systematic errors in translation initiation codon assignment in
            human mRNAs
  JOURNAL   Gene 321, 185-193 (2003)
   PUBMED   14637006
REFERENCE   5  (residues 1 to 2303)
  AUTHORS   Reymond A, Friedli M, Henrichsen CN, Chapot F, Deutsch S, Ucla C,
            Rossier C, Lyle R, Guipponi M and Antonarakis SE.
  TITLE     From PREDs and open reading frames to cDNA isolation: revisiting
            the human chromosome 21 transcription map
  JOURNAL   Genomics 78 (1-2), 46-54 (2001)
   PUBMED   11707072
REFERENCE   6  (residues 1 to 2303)
  AUTHORS   Sun CT, Lo WY, Wang IH, Lo YH, Shiou SR, Lai CK and Ting LP.
  TITLE     Transcription repression of human hepatitis B virus genes by
            negative regulatory element-binding protein/SON
  JOURNAL   J Biol Chem 276 (26), 24059-24067 (2001)
   PUBMED   11306577
REFERENCE   7  (residues 1 to 2303)
  AUTHORS   Wynn SL, Fisher RA, Pagel C, Price M, Liu QY, Khan IM, Zammit P,
            Dadrah K, Mazrani W, Kessling A, Lee JS and Buluwela L.
  TITLE     Organization and conservation of the GART/SON/DONSON locus in mouse
            and human genomes
  JOURNAL   Genomics 68 (1), 57-62 (2000)
   PUBMED   10950926
REFERENCE   8  (residues 1 to 2303)
  AUTHORS   Greenhalf W, Lee J and Chaudhuri B.
  TITLE     A selection system for human apoptosis inhibitors using yeast
  JOURNAL   Yeast 15 (13), 1307-1321 (1999)
   PUBMED   10509013
REFERENCE   9  (residues 1 to 2303)
  AUTHORS   Khan IM, Fisher RA, Johnson KJ, Bailey ME, Siciliano MJ, Kessling
            AM, Farrer M, Carritt B, Kamalati T and Buluwela L.
  TITLE     The SON gene encodes a conserved DNA binding protein mapping to
            human chromosome 21
  JOURNAL   Ann Hum Genet 58 (1), 25-34 (1994)
   PUBMED   8031013
REFERENCE   10 (residues 1 to 2303)
  AUTHORS   Mattioni T, Hume CR, Konigorski S, Hayes P, Osterweil Z and Lee JS.
  TITLE     A cDNA clone for a novel nuclear protein with DNA binding activity
  JOURNAL   Chromosoma 101 (10), 618-624 (1992)
   PUBMED   1424986
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000303.2 and AP000304.1.
            On May 21, 2020 this sequence version replaced NP_115571.2.
            
            Summary: This gene encodes a protein that contains multiple simple
            repeats. The encoded protein binds RNA and promotes pre-mRNA
            splicing, particularly of transcripts with poor splice sites. The
            protein also recognizes a specific DNA sequence found in the human
            hepatitis B virus (HBV) and represses HBV core promoter activity.
            There is a pseudogene for this gene on chromosome 1. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jul 2013].
            
            Transcript Variant: This variant (b) lacks multiple 3' coding exons
            and contains an alternate 3' exon, resulting in a distinct 3'
            coding region and 3' UTR, compared to variant f. The encoded
            isoform (B) is shorter and has a distinct C-terminus, compared to
            isoform F.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF380180.1, AB028942.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2303
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     Protein         1..2303
                     /product="protein SON isoform B"
                     /note="NRE-binding protein; negative regulatory
                     element-binding protein; Bax antagonist selected in
                     Saccharomyces 1; SON DNA binding protein"
                     /calculated_mol_wt=250259
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            16
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          24..56
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          77..155
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            94
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            142
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            152
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            154
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            160
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          <170..460
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            283
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            288
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          305..328
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          <340..673
                     /region_name="PHA03379"
                     /note="EBNA-3A; Provisional"
                     /db_xref="CDD:223066"
     Site            400
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          406..442
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          726..895
                     /region_name="17 X 10 AA tandem repeats of
                     L-A-[ST]-[NSG]-[TS]-MDSQM"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          912..988
                     /region_name="11 X 7 AA tandem repeats of
                     [DR]-P-Y-R-[LI][AG][QHP]"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            950
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            959
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            998
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          1006..1126
                     /region_name="14 X 6 AA repeats of [ED]-R-S-M-M-S"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            1007
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9QX47; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1022
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9QX47; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1035
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1043
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1060
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1068
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1082
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          1144..1236
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          1147..1179
                     /region_name="3 X 11 AA tandem repats of
                     P-P-L-P-P-E-E-P-P-[TME]-[MTG]"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          <1289..1481
                     /region_name="rne"
                     /note="ribonuclease E; Reviewed; PRK10811"
                     /db_xref="CDD:236766"
     Region          1359..1390
                     /region_name="4 X 8 AA tandem repeats of
                     V-L-E-SS-[AVT]-VT"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            1556
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          1645..1722
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            1651
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1697
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1701
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1747
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          1754..2054
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            1759
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1766
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1769
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1782
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1783
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          1925..1994
                     /region_name="7 X 7 AA repeats of P-S-R-R-S-R-[TS]"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          1934..2013
                     /region_name="2 X 19 AA repeats of
                     P-S-R-R-R-R-S-R-S-V-V-R-R-R-S-F-S-I-S"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            1948
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1950
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1952
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            2009
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            2011
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          2013..2039
                     /region_name="3 X tandem repeats of
                     [ST]-P-[VLI]-R-[RL]-[RK]-[RF]-S-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            2013
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            2029
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            2031
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            2055
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            2129
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            2163
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     CDS             1..2303
                     /gene="SON"
                     /gene_synonym="BASS1; C21orf50; DBP-5; NREBP; SON3;
                     TOKIMS"
                     /coded_by="NM_032195.3:56..6967"
                     /note="isoform B is encoded by transcript variant b"
                     /db_xref="CCDS:CCDS13631.1"
                     /db_xref="GeneID:6651"
                     /db_xref="HGNC:HGNC:11183"
                     /db_xref="MIM:182465"
ORIGIN      
        1 matnieqifr sfvvskfrei qqelssgrne gqlngetntp iegnqagdaa asarslpnee
       61 ivqkieevls gvldtelryk pdlkegsrks rcvsvqtdpt deiptkkskk hkkhknkkkk
      121 kkkekekkyk rqpeeseskt kshddgnidl esdsflkfds epsavalelp trafgpsetn
      181 espavvlepp vvsmevseph iletlkpatk taelsvvsts viseqseqsv avmpepsmtk
      241 ildsfaaapv ptttlvlkss epvvtmsvey qmksvlksve stspepskim lveppvakvl
      301 epsetlvvss etptevypep ststtmdfpe ssaiealrlp eqpvdvpsei adssmtrpqe
      361 lpelpkttal elqessvasa melpgppats mpelqgppvt pvlelpgpsa tpvpelpgpl
      421 stpvpelpgp patavpelpg psvtpvpqls qelpglpaps mgleppqevp eppvmaqelp
      481 glplvtaave lpeqpavtva melteqpvtt teleqpvgmt tvehpghpev ttatgllgqp
      541 eatmvlelpg qpvattalel pgqpsvtgvp elpglpsatr alelsgqpva tgalelpgpl
      601 maagalefsg qsgaagalel lgqplatgvl elpgqpgape lpgqpvatva leisvqsvvt
      661 tselstmtvs qslevpstta lesyntvaqe lpttlvgets vtvgvdplma peshilasnt
      721 methilasnt mdsqmlasnt mdsqmlasnt mdsqmlasst mdsqmlatss mdsqmlatss
      781 mdsqmlatst mdsqmlatss mdsqmlatss mdsqmlatss mdsqmlatss mdsqmlatst
      841 mdsqmlatst mdsqmlatss mdsqmlasgt mdsqmlasgt mdaqmlasgt mdaqmlasst
      901 qdsamlgsks pdpyrlaqdp yrlaqdpyrl ghdpyrlghd ayrlgqdpyr lghdpyrltp
      961 dpyrmsprpy riaprsyria prpyrlaprp lmlasrrsmm msyaaersmm ssyersmmsy
     1021 ersmmspmae rsmmsayers mmsayersmm spmaersmms ayersmmsay ersmmspmad
     1081 rsmmsmgadr smmssysaad rsmmssysaa drsmmssyta drsmmsmaad sytdsytdty
     1141 teaymvpplp peepptmppl ppeeppmtpp lppeeppegp alpteqsalt aentwptevp
     1201 sspseesvsq peppvsqsei sepsavptdy svsasdpsvl vseaavtvpe pppepessit
     1261 ltpvesavva eehevvperp vtcmvsetpa msaeptvlas eppvmsetae tfdsmrasgh
     1321 vasevstsll vpavttpvla esileppama apessamavl essavtvles stvtvlesst
     1381 vtvlepsvvt vpeppvvaep dyvtipvpvv salepsvpvl epavsvlqps mivsepsvsv
     1441 qestvtvsep avtvseqtqv iptevaiest pmilessims shvmkginls sgdqnlapei
     1501 gmqeialhsg eephaeehlk gdfyesehgi nidlninnhl iakemehntv caagtspvge
     1561 igeekilpts etkqrtvldt ypgvseadag etlsstgpfa lepdatgtsk giefttastl
     1621 slvnkydvdl slttqdtehd mvistspsgg seadiegplp akdihldlps nnnlvskdte
     1681 eplpvkesdq tlaallspke ssggekevpp ppketlpdsg fsaniedine adlvrpllpk
     1741 dmerltslra giegpllasd vgrdrsaasp vvssmperas essseekddy eifvkvkdth
     1801 ekskknknrd kgekekkrds slrsrskrsk ssehksrkrt sesrsrarkr sskskshrsq
     1861 trsrsrsrrr rrssrsrsks rgrrsvskek rkrspkhrsk srerkrkrss srdnrktvra
     1921 rsrtpsrrsr shtpsrrrrs rsvgrrrsfs ispsrrsrtp srrsrtpsrr srtpsrrsrt
     1981 psrrsrtpsr rsrtpsrrrr srsvvrrrsf sispvrlrrs rtplrrrfsr spirrkrsrs
     2041 sergrspkrl tdldkaqlle iakanaaamc akagvplppn lkpappptie ekvakksgga
     2101 tieeltekck qiaqskeddd vivnkphvsd eeeeeppfyh hpfklsepkp iffnlniaaa
     2161 kptppksqvt ltkefpvssg sqhrkkeads vygewvpvek ngeenkdddn vfssnlpseg
     2221 rvkrqgrvrr qmkqpaashl tvtrcnslcg tkpqsekhri aensvitslp nigpslhlwe
     2281 gsprynylas rfasrlyssr fww
//
LOCUS       NP_001018854             479 aa            linear   PRI 30-DEC-2022
DEFINITION  zinc finger and SCAN domain-containing protein 26 isoform a [Homo
            sapiens].
ACCESSION   NP_001018854
VERSION     NP_001018854.2
DBSOURCE    REFSEQ: accession NM_001023560.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 479)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 479)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 479)
  AUTHORS   Kim YC, Wu Q, Chen J, Xuan Z, Jung YC, Zhang MQ, Rowley JD and Wang
            SM.
  TITLE     The transcriptome of human CD34+ hematopoietic stem-progenitor
            cells
  JOURNAL   Proc Natl Acad Sci U S A 106 (20), 8278-8283 (2009)
   PUBMED   19416867
REFERENCE   4  (residues 1 to 479)
  AUTHORS   Attar RM and Gilman MZ.
  TITLE     Expression cloning of a novel zinc finger protein that binds to the
            c-fos serum response element
  JOURNAL   Mol Cell Biol 12 (5), 2432-2443 (1992)
   PUBMED   1569959
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK095948.1, AL526328.3 and BC013951.2.
            On Nov 30, 2007 this sequence version replaced NP_001018854.1.
            
            Transcript Variant: This variant (a) represents the longest
            transcript and encodes the longest isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX537535.1, SRR14038193.2233354.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000421553.7/ ENSP00000481707.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..479
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     Protein         1..479
                     /product="zinc finger and SCAN domain-containing protein
                     26 isoform a"
                     /note="zinc finger and SCAN domain-containing protein 26;
                     zinc finger protein 187"
                     /calculated_mol_wt=55222
     Region          52..158
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Region          160..182
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16670.2)"
     Region          201..227
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16670.2)"
     Region          234..254
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          285..305
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <290..469
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Site            order(290,292,294,296..297,300..301,304,318,320,324..325,
                     328..329,332,346,348,350,352..353,356..357,360)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          313..333
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          341..361
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          369..389
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          397..417
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(402,404,406,408..409,412..413,416,430,432,436..437,
                     440..441,444,458,460,462,464..465,468..469,472)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          425..445
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          453..473
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..479
                     /gene="ZSCAN26"
                     /gene_synonym="SRE-ZBP; SREZBP; ZNF187"
                     /coded_by="NM_001023560.4:138..1577"
                     /note="isoform a is encoded by transcript variant a"
                     /db_xref="GeneID:7741"
                     /db_xref="HGNC:HGNC:12978"
                     /db_xref="MIM:616474"
ORIGIN      
        1 matalvsahs laplnlkkeg lrvvredhys tweqgfklqg nskglgqepl ckqfrqlrye
       61 ettgpreals rlrelcqqwl qpethtkeqi lellvleqfl iilpkelqar vqehhpesre
      121 dvvvvledlq ldlgetgqqv dpdqpkkqki lveemaplkg vqeqqvrhec evtkpekekg
      181 eetriengkl ivvtdscgrv essgkisepm eahnegsnle rhqakpkeki eykcsereqr
      241 fiqhldlieh asthtgkklc esdvcqsssl tghkkvlsre kghqchecgk afqrsshlvr
      301 hqkihlgekp yqcnecgkvf sqnagllehl rihtgekpyl cihcgknfrr sshlnrhqri
      361 hsqeepceck ecgktfsqal llthhqrihs hskshqcnec gkafsltsdl irhhrihtge
      421 kpfkcnicqk afrlnshlaq hvrihneekp yqcsecgeaf rqrsglfqhq ryhhkdkla
//
LOCUS       NP_001269496             243 aa            linear   PRI 30-DEC-2022
DEFINITION  zinc finger CCHC domain-containing protein 17 isoform b [Homo
            sapiens].
ACCESSION   NP_001269496 XP_005270987
VERSION     NP_001269496.1
DBSOURCE    REFSEQ: accession NM_001282567.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 243)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 243)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 243)
  AUTHORS   Lin YM, Chu PH and Ouyang P.
  TITLE     Ectopically expressed pNO40 suppresses ribosomal RNA synthesis by
            inhibiting UBF-dependent transcription activation
  JOURNAL   Biochem Biophys Res Commun 516 (2), 381-387 (2019)
   PUBMED   31217076
  REMARK    GeneRIF: These results demonstrate the role of pNO40 in ribosomal
            RNA biosynthesis regulation by compromising UBF function in
            ribosomal DNA transcription activation with subsequent ribosomal
            RNA synthesis inhibition.
REFERENCE   4  (residues 1 to 243)
  AUTHORS   Tomljanovic Z, Patel M, Shin W, Califano A and Teich AF.
  TITLE     ZCCHC17 is a master regulator of synaptic gene expression in
            Alzheimer's disease
  JOURNAL   Bioinformatics 34 (3), 367-371 (2018)
   PUBMED   29028963
  REMARK    GeneRIF: ZCCHC17 loss is an early driver of lower synaptic gene
            expression in Alzheimer's disease.
REFERENCE   5  (residues 1 to 243)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam
            S, MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 243)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   7  (residues 1 to 243)
  AUTHORS   Orvedahl A, Sumpter R Jr, Xiao G, Ng A, Zou Z, Tang Y, Narimatsu M,
            Gilpin C, Sun Q, Roth M, Forst CV, Wrana JL, Zhang YE, Luby-Phelps
            K, Xavier RJ, Xie Y and Levine B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   8  (residues 1 to 243)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   9  (residues 1 to 243)
  AUTHORS   Chang WL, Lee DC, Leu S, Huang YM, Lu MC and Ouyang P.
  TITLE     Molecular characterization of a novel nucleolar protein, pNO40
  JOURNAL   Biochem Biophys Res Commun 307 (3), 569-577 (2003)
   PUBMED   12893261
  REMARK    GeneRIF: molecular cloning and characterization; it is localized to
            nucleoli of diverse cultured cells, with some concentration in the
            granular component of nucleoli
REFERENCE   10 (residues 1 to 243)
  AUTHORS   Gueydan C, Wauquier C, De Mees C, Huez G and Kruys V.
  TITLE     Identification of ribosomal proteins specific to higher eukaryotic
            organisms
  JOURNAL   J Biol Chem 277 (47), 45034-45040 (2002)
   PUBMED   12202495
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC366453.1, AK302343.1, BC050609.1, AF247661.2 and AK307478.1.
            On Sep 13, 2013 this sequence version replaced XP_005270987.1.
            
            Transcript Variant: This variant (2) lacks a portion of the 5' UTR
            and 5' coding region, initiates translation at a downstream
            in-frame start codon, and uses an alternate in-frame splice site in
            the 3' coding region, compared to variant 1. The encoded isoform
            (b) is shorter at the N-terminus, compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302343.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161674, SAMN02400288
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..243
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.2"
     Protein         1..243
                     /product="zinc finger CCHC domain-containing protein 17
                     isoform b"
                     /note="putative S1 RNA binding domain protein; nucleolar
                     protein 40; nucleolar protein of 40 kDa; pnn-interacting
                     nucleolar protein; zinc finger CCHC domain-containing
                     protein 17; zinc finger, CCHC domain containing 17"
                     /calculated_mol_wt=27863
     Region          1..62
                     /region_name="S1_like"
                     /note="Ribosomal protein S1-like RNA-binding domain. Found
                     in a wide variety of RNA-associated proteins. Originally
                     identified in S1 ribosomal protein. This superfamily also
                     contains the Cold Shock Domain (CSD), which is a homolog
                     of the S1 domain. Both domains...; cl09927"
                     /db_xref="CDD:447859"
     CDS             1..243
                     /gene="ZCCHC17"
                     /gene_synonym="HSPC251; pNO40; PS1D"
                     /coded_by="NM_001282567.2:51..782"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS60062.1"
                     /db_xref="GeneID:51538"
                     /db_xref="HGNC:HGNC:30246"
                     /db_xref="MIM:619744"
ORIGIN      
        1 mvtdygafik ipgcrkqglv hrthmsscrv dkpseivdvg dkvwvkligr emkndrikvs
       61 lsmkvvnqgt gkdldpnnvi ieqeerrrrs fqdytgqkit leavlnttck kcgckgrvkp
      121 lpfprfspcg wtlfwkkeaa qchfakdcfm qpggtkysli pdeeeekeea ksaefekpdp
      181 trnpsrkrkk ekkkkkhrdr kssdsdssds esdtgkrarh tskdskaakk kkkkkkhkkk
      241 hke
//
LOCUS       NP_001128471             687 aa            linear   PRI 30-DEC-2022
DEFINITION  fermitin family homolog 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001128471
VERSION     NP_001128471.1
DBSOURCE    REFSEQ: accession NM_001134999.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 687)
  AUTHORS   Xia W, Gao Z, Jiang X, Jiang L, Qin Y, Zhang D, Tian P, Wang W,
            Zhang Q, Zhang R, Zhang N and Xu S.
  TITLE     Alzheimer's risk factor FERMT2 promotes the progression of
            colorectal carcinoma via Wnt/beta-catenin signaling pathway and
            contributes to the negative correlation between Alzheimer and
            cancer
  JOURNAL   PLoS One 17 (12), e0278774 (2022)
   PUBMED   36480537
  REMARK    GeneRIF: Alzheimer's risk factor FERMT2 promotes the progression of
            colorectal carcinoma via Wnt/beta-catenin signaling pathway and
            contributes to the negative correlation between Alzheimer and
            cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 687)
  AUTHORS   Ma L, Tian Y, Qian T, Li W, Liu C, Chu B, Kong Q, Cai R, Bai P, Ma
            L, Deng Y, Tian R, Wu C and Sun Y.
  TITLE     Kindlin-2 promotes Src-mediated tyrosine phosphorylation of
            androgen receptor and contributes to breast cancer progression
  JOURNAL   Cell Death Dis 13 (5), 482 (2022)
   PUBMED   35595729
  REMARK    GeneRIF: Kindlin-2 promotes Src-mediated tyrosine phosphorylation
            of androgen receptor and contributes to breast cancer progression.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 687)
  AUTHORS   Chen Z, Shen K, Zheng Z, Zhou J, Zhao S, Song H, Liu J, Zhao X, Liu
            F and Zuo Q.
  TITLE     Kindlin-2 Promotes Chondrogenesis and Ameliorates IL-1beta-Induced
            Inflammation in Chondrocytes Cocultured with BMSCs in the Direct
            Contact Coculture System
  JOURNAL   Oxid Med Cell Longev 2022, 3156245 (2022)
   PUBMED   35450413
  REMARK    GeneRIF: Kindlin-2 Promotes Chondrogenesis and Ameliorates
            IL-1beta-Induced Inflammation in Chondrocytes Cocultured with BMSCs
            in the Direct Contact Coculture System.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 687)
  AUTHORS   Huang S, Liao J, Luo X, Liu F, Shi G and Wen W.
  TITLE     Kindlin-2 promoted the progression of keloids through the Smad
            pathway and Fas/FasL pathway
  JOURNAL   Exp Cell Res 408 (1), 112813 (2021)
   PUBMED   34492266
  REMARK    GeneRIF: Kindlin-2 promoted the progression of keloids through the
            Smad pathway and Fas/FasL pathway.
REFERENCE   5  (residues 1 to 687)
  AUTHORS   Cui Q, Wang C, Liu S, Du R, Tian S, Chen R, Geng H, Subramanian S,
            Niu Y, Wang Y and Yue D.
  TITLE     YBX1 knockdown induces renal cell carcinoma cell apoptosis via
            Kindlin-2
  JOURNAL   Cell Cycle 20 (22), 2413-2427 (2021)
   PUBMED   34709966
  REMARK    GeneRIF: YBX1 knockdown induces renal cell carcinoma cell apoptosis
            via Kindlin-2.
REFERENCE   6  (residues 1 to 687)
  AUTHORS   Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC,
            South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M,
            Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A,
            Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E,
            Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S,
            Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F,
            Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA
            and Epstein EH.
  TITLE     Loss of kindlin-1, a human homolog of the Caenorhabditis elegans
            actin-extracellular-matrix linker protein UNC-112, causes Kindler
            syndrome
  JOURNAL   Am J Hum Genet 73 (1), 174-187 (2003)
   PUBMED   12789646
REFERENCE   7  (residues 1 to 687)
  AUTHORS   Weinstein EJ, Bourner M, Head R, Zakeri H, Bauer C and Mazzarella
            R.
  TITLE     URP1: a member of a novel family of PH and FERM domain-containing
            membrane-associated proteins is significantly over-expressed in
            lung and colon carcinomas
  JOURNAL   Biochim Biophys Acta 1637 (3), 207-216 (2003)
   PUBMED   12697302
REFERENCE   8  (residues 1 to 687)
  AUTHORS   Tu Y, Wu S, Shi X, Chen K and Wu C.
  TITLE     Migfilin and Mig-2 link focal adhesions to filamin and the actin
            cytoskeleton and function in cell shape modulation
  JOURNAL   Cell 113 (1), 37-47 (2003)
   PUBMED   12679033
REFERENCE   9  (residues 1 to 687)
  AUTHORS   Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C,
            Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A,
            Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H,
            Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon
            O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere
            F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R,
            Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A,
            Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S,
            Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C,
            Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S,
            Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C,
            Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P,
            Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois
            M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V,
            Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J,
            Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F,
            Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F,
            Waterston R, Hood L and Weissenbach J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
REFERENCE   10 (residues 1 to 687)
  AUTHORS   Wick M, Burger C, Brusselbach S, Lucibello FC and Muller R.
  TITLE     Identification of serum-inducible genes: different patterns of gene
            regulation during G0-->S and G1-->S progression
  JOURNAL   J Cell Sci 107 (Pt 1), 227-239 (1994)
   PUBMED   8175911
  REMARK    Erratum:[J Cell Sci. 1994 Mar;107 ( Pt 3):preceding table of
            contents. PMID: 8006057]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC017327.2, BX161467.1, AL139317.5 and BC011125.1.
            
            Transcript Variant: This variant (2) contains an additional
            in-frame coding exon compared to variant 1, resulting in a longer
            isoform (2) with an internal 7 aa segment missing in isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3077440.1,
                                           SRR14038197.2326919.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..687
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.1"
     Protein         1..687
                     /product="fermitin family homolog 2 isoform 2"
                     /note="pleckstrin homology domain containing, family C
                     (with FERM domain) member 1; mitogen inducible gene 2
                     protein; pleckstrin homology domain containing, family C
                     member 1; kindlin 2; PH domain-containing family C member
                     1; fermitin family homolog 2; mitogen inducible gene-2;
                     fermitin family member 2"
                     /calculated_mol_wt=78545
     Region          17..96
                     /region_name="FERM_F0_KIND2"
                     /note="FERM (Four.1 protein, Ezrin, Radixin, Moesin)
                     domain, F0 sub-domain, found in kindlin-2 (KIND2);
                     cd17181"
                     /db_xref="CDD:340701"
     Region          40..81
                     /region_name="Interaction with membranes containing
                     phosphatidylinositol phosphate"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96AC1.1)"
     Region          97..277
                     /region_name="FERM_F1_KIND2"
                     /note="FERM (Four.1 protein, Ezrin, Radixin, Moesin)
                     domain, F1 sub-domain, found in kindlin-2 (KIND2);
                     cd17184"
                     /db_xref="CDD:340704"
     Region          141..165
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96AC1.1)"
     Site            159
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q96AC1.1)"
     Site            181
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96AC1.1)"
     Region          <241..>324
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Site            339
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q96AC1.1)"
     Site            351
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q96AC1.1)"
     Region          373..497
                     /region_name="PH_fermitin"
                     /note="Fermitin family pleckstrin homology (PH) domain;
                     cd01237"
                     /db_xref="CDD:269943"
     Site            order(381,383,385,389..391,393,406,408,419)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:269943"
     Region          <484..580
                     /region_name="FERM_M"
                     /note="FERM central domain; pfam00373"
                     /db_xref="CDD:425644"
     Region          574..665
                     /region_name="FERM_C_fermitin"
                     /note="FERM domain C-lobe of the Fermitin family; cd13205"
                     /db_xref="CDD:270026"
     Site            order(584,602,604,612)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270026"
     Site            order(616,621..624,654,658,661..662)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270026"
     Site            654..665
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270026"
     Site            673
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q96AC1.1)"
     CDS             1..687
                     /gene="FERMT2"
                     /gene_synonym="KIND2; mig-2; MIG2; PLEKHC1; UNC112;
                     UNC112B"
                     /coded_by="NM_001134999.2:140..2203"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS45107.1"
                     /db_xref="GeneID:10979"
                     /db_xref="HGNC:HGNC:15767"
                     /db_xref="MIM:607746"
ORIGIN      
        1 maldgirmpd gcyadgtwel svhvtdlnrd vtlrvtgevh iggvmlklve kldvkkdwsd
       61 halwwekkrt wllkthwtld kygiqadakl qftpqhkllr lqlpnmkyvk vkvnfsdrvf
      121 kavsdicktf nirhpeelsl lkkprdptkk kkkklddqse dealelegpl itpgsgsiys
      181 spglysktmt ptydahdgsp lsptsawfgd salsegnpgi lavsqpitsp eilakmfkpq
      241 alldkakinq gwldssrslm eqdvkeneal llrfkyysff dlnpkydair inqlyeqakw
      301 ailleeiect eeemmmfaal qyhinklsim tsenhlnnsd kevdevdaal sdleitlegg
      361 ktstilgdit sipeladyik vfkpkkltlk gykqywctfk dtsiscyksk eessgtpahq
      421 mnlrgcevtp dvnisgqkfn ikllipvaeg mneiwlrcdn ekqyahwmaa crlaskgktm
      481 adssynlevq nilsflkmqh lnpdpqlipe qittditpec lvsprylkky knkqpgyird
      541 litarileah qnvaqmslie akmrfiqawq slpefgithf iarfqggkke eligiaynrl
      601 irmdastgda iktwrfsnmk qwnvnweikm vtvefadevr lsfictevdc kvvhefiggy
      661 iflstrakdq nesldeemfy kltsgwv
//
LOCUS       NP_001307618              92 aa            linear   PRI 30-DEC-2022
DEFINITION  tyrosine-protein phosphatase non-receptor type 20 isoform 11 [Homo
            sapiens].
ACCESSION   NP_001307618
VERSION     NP_001307618.1
DBSOURCE    REFSEQ: accession NM_001320689.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 92)
  AUTHORS   van Eekelen M, Runtuwene V, Masselink W and den Hertog J.
  TITLE     Pair-wise regulation of convergence and extension cell movements by
            four phosphatases via RhoA
  JOURNAL   PLoS One 7 (4), e35913 (2012)
   PUBMED   22545146
REFERENCE   2  (residues 1 to 92)
  AUTHORS   Fodero-Tavoletti MT, Hardy MP, Cornell B, Katsis F, Sadek CM,
            Mitchell CA, Kemp BE and Tiganis T.
  TITLE     Protein tyrosine phosphatase hPTPN20a is targeted to sites of actin
            polymerization
  JOURNAL   Biochem J 389 (Pt 2), 343-354 (2005)
   PUBMED   15790311
  REMARK    GeneRIF: identification of hPTPN20a as a novel and widely expressed
            phosphatase with a dynamic subcellular distribution that is
            targeted to sites of actin polymerization
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY753191.1, AY704156.1,
            BC036539.2 and AL358791.24.
            
            Summary: The product of this gene belongs to the family of
            classical tyrosine-specific protein tyrosine phosphatases. Many
            protein tyrosine phosphatases have been shown to regulate
            fundamental cellular processes. The encoded protein appears to be
            targeted to sites of actin polymerization. A pseudogene of this
            gene has been defined on chromosome 10. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Apr
            2014].
            
            Transcript Variant: This variant (14) differs in the 5' UTR and
            lacks portions of the 5' and 3' coding regions, resulting in a
            frameshift compared to variant 1. The encoded isoform (11) is
            shorter than isoform 1. Variants 13-15, 47, and 48 all encode the
            same isoform (11).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY704156.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2151119
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..92
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     Protein         1..92
                     /product="tyrosine-protein phosphatase non-receptor type
                     20 isoform 11"
                     /EC_number="3.1.3.48"
                     /note="protein tyrosine phosphatase, non-receptor type
                     20A; tyrosine-protein phosphatase non-receptor type 20;
                     protein tyrosine phosphatase, non-receptor type 20B"
                     /calculated_mol_wt=10580
     Region          <51..86
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     CDS             1..92
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /coded_by="NM_001320689.2:319..597"
                     /note="isoform 11 is encoded by transcript variant 14"
                     /db_xref="GeneID:26095"
                     /db_xref="HGNC:HGNC:23423"
                     /db_xref="MIM:610630"
ORIGIN      
        1 mimrmflksl qkvavipacg qpeapseetg gavrmrrlqg hhrlsplyfl fnimdivaqm
       61 reqrsgmvqt keqyhfcydi vlevlrkllt ld
//
LOCUS       NP_001116801             713 aa            linear   PRI 31-DEC-2022
DEFINITION  zinc finger and BTB domain-containing protein 1 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001116801
VERSION     NP_001116801.1
DBSOURCE    REFSEQ: accession NM_001123329.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 713)
  AUTHORS   Liu J and Liu J.
  TITLE     Circ_0000442 functions as a tumor repressor in breast cancer by
            impacting miR-1229-3p and upregulating ZBTB1
  JOURNAL   Mamm Genome 33 (3), 543-554 (2022)
   PUBMED   35394175
  REMARK    GeneRIF: Circ_0000442 functions as a tumor repressor in breast
            cancer by impacting miR-1229-3p and upregulating ZBTB1.
REFERENCE   2  (residues 1 to 713)
  AUTHORS   Cheng MY, Zeng Y, Sun Y, Shi CW, Wang JH, Li FD, Lu YY, Wang JY,
            Wang RY, Li XY, Li XX, Fan SH, Yang GL, Cao X, Xu B and Wang CF.
  TITLE     Preliminary analysis of the expression of ZBTB1 in human pancreatic
            carcinoma
  JOURNAL   J Cell Mol Med 25 (17), 8573-8576 (2021)
   PUBMED   34312970
  REMARK    GeneRIF: Preliminary analysis of the expression of ZBTB1 in human
            pancreatic carcinoma.
REFERENCE   3  (residues 1 to 713)
  AUTHORS   Zhang P, Yang Y, Qian K, Li L, Zhang C, Fu X, Zhang X, Chen H, Liu
            Q, Cao S and Cui J.
  TITLE     A novel tumor suppressor ZBTB1 regulates tamoxifen resistance and
            aerobic glycolysis through suppressing HER2 expression in breast
            cancer
  JOURNAL   J Biol Chem 295 (41), 14140-14152 (2020)
   PUBMED   32690611
  REMARK    GeneRIF: A novel tumor suppressor ZBTB1 regulates tamoxifen
            resistance and aerobic glycolysis through suppressing HER2
            expression in breast cancer.
REFERENCE   4  (residues 1 to 713)
  AUTHORS   Williams RT, Guarecuco R, Gates LA, Barrows D, Passarelli MC, Carey
            B, Baudrier L, Jeewajee S, La K, Prizer B, Malik S, Garcia-Bermudez
            J, Zhu XG, Cantor J, Molina H, Carroll T, Roeder RG, Abdel-Wahab O,
            Allis CD and Birsoy K.
  TITLE     ZBTB1 Regulates Asparagine Synthesis and Leukemia Cell Response to
            L-Asparaginase
  JOURNAL   Cell Metab 31 (4), 852-861 (2020)
   PUBMED   32268116
  REMARK    GeneRIF: ZBTB1 Regulates Asparagine Synthesis and Leukemia Cell
            Response to L-Asparaginase.
REFERENCE   5  (residues 1 to 713)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 713)
  AUTHORS   Punwani D, Simon K, Choi Y, Dutra A, Gonzalez-Espinosa D, Pak E,
            Naradikian M, Song CH, Zhang J, Bodine DM and Puck JM.
  TITLE     Transcription factor zinc finger and BTB domain 1 is essential for
            lymphocyte development
  JOURNAL   J Immunol 189 (3), 1253-1264 (2012)
   PUBMED   22753936
REFERENCE   7  (residues 1 to 713)
  AUTHORS   Liu Q, Yao F, Wang M, Zhou B, Cheng H, Wang W, Jin L, Lin Q and
            Wang JC.
  TITLE     Novel human BTB/POZ domain-containing zinc finger protein ZBTB1
            inhibits transcriptional activities of CRE
  JOURNAL   Mol Cell Biochem 357 (1-2), 405-414 (2011)
   PUBMED   21706167
  REMARK    GeneRIF: ZBTB1 protein may act as a transcription repressor in the
            activation of CREB and cAMP-mediated signal transduction pathways
            to mediate cellular functions.
REFERENCE   8  (residues 1 to 713)
  AUTHORS   Matic I, Schimmel J, Hendriks IA, van Santen MA, van de Rijke F,
            van Dam H, Gnad F, Mann M and Vertegaal AC.
  TITLE     Site-specific identification of SUMO-2 targets in cells reveals an
            inverted SUMOylation motif and a hydrophobic cluster SUMOylation
            motif
  JOURNAL   Mol Cell 39 (4), 641-652 (2010)
   PUBMED   20797634
REFERENCE   9  (residues 1 to 713)
  AUTHORS   Ravasi T, Suzuki H, Cannistraci CV, Katayama S, Bajic VB, Tan K,
            Akalin A, Schmeier S, Kanamori-Katayama M, Bertin N, Carninci P,
            Daub CO, Forrest AR, Gough J, Grimmond S, Han JH, Hashimoto T, Hide
            W, Hofmann O, Kamburov A, Kaur M, Kawaji H, Kubosaki A, Lassmann T,
            van Nimwegen E, MacPherson CR, Ogawa C, Radovanovic A, Schwartz A,
            Teasdale RD, Tegner J, Lenhard B, Teichmann SA, Arakawa T, Ninomiya
            N, Murakami K, Tagami M, Fukuda S, Imamura K, Kai C, Ishihara R,
            Kitazume Y, Kawai J, Hume DA, Ideker T and Hayashizaki Y.
  TITLE     An atlas of combinatorial transcriptional regulation in mouse and
            man
  JOURNAL   Cell 140 (5), 744-752 (2010)
   PUBMED   20211142
  REMARK    Erratum:[Cell. 2010 Apr 16;141(2):369. Kamburov, Atanas [added];
            Kaur, Mandeep [added]; MacPherson, Cameron Ross [added];
            Radovanovic, Aleksandar [added]; Schwartz, Ariel [added]]
REFERENCE   10 (residues 1 to 713)
  AUTHORS   Petroziello J, Yamane A, Westendorf L, Thompson M, McDonagh C,
            Cerveny C, Law CL, Wahl A and Carter P.
  TITLE     Suppression subtractive hybridization and expression profiling
            identifies a unique set of genes overexpressed in non-small-cell
            lung cancer
  JOURNAL   Oncogene 23 (46), 7734-7745 (2004)
   PUBMED   15334068
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX248777.1, BC050719.1, AW965994.1 and BM975910.1.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853566.8402.1,
                                           SRR11853564.8749.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000683701.1/ ENSP00000506911.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..713
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.3"
     Protein         1..713
                     /product="zinc finger and BTB domain-containing protein 1
                     isoform 1"
                     /note="zinc finger and BTB domain-containing protein 1"
                     /calculated_mol_wt=81885
     Region          3..116
                     /region_name="BTB_POZ_ZBTB1"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in zinc finger and
                     BTB domain-containing protein 1 (ZBTB1); cd18192"
                     /db_xref="CDD:349501"
     Region          160..179
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2K1.3)"
     Region          270..320
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2K1.3)"
     Site            355
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2K1.3)"
     Site            356
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2K1.3)"
     Region          384..416
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2K1.3)"
     Region          536..574
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          580..600
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(585,587,589,591..592,595..596,599,613,615,619..620,
                     623..624,627,641,644,646,648..649,651..652,655)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          608..628
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          636..656
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          664..684
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          688..709
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     CDS             1..713
                     /gene="ZBTB1"
                     /gene_synonym="ZNF909"
                     /coded_by="NM_001123329.2:196..2337"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS45126.1"
                     /db_xref="GeneID:22890"
                     /db_xref="HGNC:HGNC:20259"
                     /db_xref="MIM:616578"
ORIGIN      
        1 makpshssyv lqqlnnqrew gflcdcciai ddiyfqahka vlaacssyfr mffmnhqhst
       61 aqlnlsnmki saecfdlilq fmylgkimta pssfeqfkva mnylqlynvp dclediqdad
      121 cssskcsssa sskqnskmif gvrmyedtva rngneanrwc aepsstvntp hnreadeesl
      181 qlgnfpeplf dvckkssvsk lstpkervsr rfgrsftcds cgfgfscekl ldehvltctn
      241 rhlyqntrsy hrivdirdgk dsnikaefge kdssktfsaq tdkyrgdtsq aaddsasttg
      301 srksstvese iaseeksraa erkriiikme pediptdelk dfniikvtdk dcnestdnde
      361 ledepeepfy ryyveedvsi kksgrktlkp rmsvsaderg glenmrppnn sspvqedaen
      421 ascelcglti teedlsshyl akhienicac gkcgqilvkg rqlqehaqrc gepqdltmng
      481 lgnteekmdl eenpdeqsei rdmfvemldd frdnhyqins iqkkqlfkhs acpfrcpncg
      541 qrfetenlvv ehmsscldqd mfksaimeen erdhrrkhfc nlcgkgfyqr chlrehytvh
      601 tkekqfvcqt cgkqflrerq lrlhndmhkg maryvcsicd qgnfrkhdhv rhmishlsag
      661 eticqvcfqi fpnneqleqh mdvhlytcgi cgakfnlrkd mrshynakhl krt
//
LOCUS       NP_001386836             595 aa            linear   PRI 01-JAN-2023
DEFINITION  methyl-CpG-binding domain protein 1 isoform 66 [Homo sapiens].
ACCESSION   NP_001386836
VERSION     NP_001386836.1
DBSOURCE    REFSEQ: accession NM_001399907.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 595)
  AUTHORS   Xu WY, Hu QS, Qin Y, Zhang B, Liu WS, Ni QX, Xu J and Yu XJ.
  TITLE     Zinc finger E-box-binding homeobox 1 mediates aerobic glycolysis
            via suppression of sirtuin 3 in pancreatic cancer
  JOURNAL   World J Gastroenterol 24 (43), 4893-4905 (2018)
   PUBMED   30487699
  REMARK    GeneRIF: ZEB1 silenced SIRT3 expression via interaction with MBD1
            to promote aerobic glycolysis in pancreatic cancer.
REFERENCE   2  (residues 1 to 595)
  AUTHORS   Xu C, Liu K, Lei M, Yang A, Li Y, Hughes TR and Min J.
  TITLE     DNA Sequence Recognition of Human CXXC Domains and Their Structural
            Determinants
  JOURNAL   Structure 26 (1), 85-95 (2018)
   PUBMED   29276034
REFERENCE   3  (residues 1 to 595)
  AUTHORS   Zhang P, Rausch C, Hastert FD, Boneva B, Filatova A, Patil SJ,
            Nuber UA, Gao Y, Zhao X and Cardoso MC.
  TITLE     Methyl-CpG binding domain protein 1 regulates localization and
            activity of Tet1 in a CXXC3 domain-dependent manner
  JOURNAL   Nucleic Acids Res 45 (12), 7118-7136 (2017)
   PUBMED   28449087
  REMARK    GeneRIF: MBD1 regulates localization and activity of Tet1 in a
            CXXC3 domain-dependent manner.
REFERENCE   4  (residues 1 to 595)
  AUTHORS   Qi L and Ding Y.
  TITLE     Screening of Tumor Suppressor Genes in Metastatic Colorectal Cancer
  JOURNAL   Biomed Res Int 2017, 2769140 (2017)
   PUBMED   28473981
  REMARK    GeneRIF: MBD1 may be a tumor suppressor gene in advanced colorectal
            cancer (CRC)and affect the development and metastasis of CRC by
            regulating 8 tumor suppressor genes through binding with SP1.
REFERENCE   5  (residues 1 to 595)
  AUTHORS   Ohki I, Shimotake N, Fujita N, Nakao M and Shirakawa M.
  TITLE     Solution structure of the methyl-CpG-binding domain of the
            methylation-dependent transcriptional repressor MBD1
  JOURNAL   EMBO J 18 (23), 6653-6661 (1999)
   PUBMED   10581239
REFERENCE   6  (residues 1 to 595)
  AUTHORS   Fujita N, Takebayashi S, Okumura K, Kudo S, Chiba T, Saya H and
            Nakao M.
  TITLE     Methylation-mediated transcriptional silencing in euchromatin by
            methyl-CpG binding protein MBD1 isoforms
  JOURNAL   Mol Cell Biol 19 (9), 6415-6426 (1999)
   PUBMED   10454587
REFERENCE   7  (residues 1 to 595)
  AUTHORS   Hendrich B, Abbott C, McQueen H, Chambers D, Cross S and Bird A.
  TITLE     Genomic structure and chromosomal mapping of the murine and human
            Mbd1, Mbd2, Mbd3, and Mbd4 genes
  JOURNAL   Mamm Genome 10 (9), 906-912 (1999)
   PUBMED   10441743
REFERENCE   8  (residues 1 to 595)
  AUTHORS   Ueba T, Kaspar B, Zhao X and Gage FH.
  TITLE     Repression of human fibroblast growth factor 2 by a novel
            transcription factor
  JOURNAL   J Biol Chem 274 (15), 10382-10387 (1999)
   PUBMED   10187827
REFERENCE   9  (residues 1 to 595)
  AUTHORS   Hendrich B and Bird A.
  TITLE     Identification and characterization of a family of mammalian
            methyl-CpG binding proteins
  JOURNAL   Mol Cell Biol 18 (11), 6538-6547 (1998)
   PUBMED   9774669
REFERENCE   10 (residues 1 to 595)
  AUTHORS   Cross SH, Meehan RR, Nan X and Bird A.
  TITLE     A component of the transcriptional repressor MeCP1 shares a motif
            with DNA methyltransferase and HRX proteins
  JOURNAL   Nat Genet 16 (3), 256-259 (1997)
   PUBMED   9207790
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090246.9.
            
            Summary: The protein encoded by this gene is a member of a family
            of nuclear proteins related by the presence of a methyl-CpG binding
            domain (MBD). These proteins are capable of binding specifically to
            methylated DNA, and some members can also repress transcription
            from methylated gene promoters. This protein contains multiple
            domains: MBD at the N-terminus that functions both in binding to
            methylated DNA and in protein interactions; several CXXC-type zinc
            finger domains that mediate binding to non-methylated CpG
            dinucleotides; transcriptional repression domain (TRD) at the
            C-terminus that is involved in transcription repression and in
            protein interactions. Numerous alternatively spliced transcript
            variants encoding different isoforms have been noted for this
            gene.[provided by RefSeq, Feb 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.57730.1,
                                           SRR14038194.1213183.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..595
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     Protein         1..595
                     /product="methyl-CpG-binding domain protein 1 isoform 66"
                     /note="the regulator of fibroblast growth factor 2 (FGF-2)
                     transcription; CXXC-type zinc finger protein 3; protein
                     containing methyl-CpG-binding domain 1"
                     /calculated_mol_wt=65004
     Region          3..76
                     /region_name="MBD"
                     /note="Methyl-CpG binding domain; smart00391"
                     /db_xref="CDD:128673"
     Site            order(18,20,22,30,32,41,44,48)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238690"
     Region          168..215
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     Region          217..262
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     CDS             1..595
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /coded_by="NM_001399907.1:187..1974"
                     /note="isoform 66 is encoded by transcript variant 84"
                     /db_xref="GeneID:4152"
                     /db_xref="HGNC:HGNC:6916"
                     /db_xref="MIM:156535"
ORIGIN      
        1 maedwldcpa lgpgwkrrev frksgatcgr sdtyyqsptg drirskvelt rylgpacdlt
       61 lfdfkqgilc ypapkahpva vaskkrkkps rpaktrkrqv gpqsgevrke aprdetkadt
      121 dtapasfpap gccencgisf sgdgtqrqrl ktlckdcraq riafnreqrm fkrvgcgeca
      181 acqvtedcga cstcllqlph dvasglfckc errrclrive rsrgcgvcrg cqtqedcghc
      241 piclrpprpg lrrqwkcvqr rclrgkharr kggcdskmaa rrrpgaqplp ppppsqspep
      301 tephpralap sppaefiyyc vdedelkrll psvwsesedg agspppyrrr krpssarrhh
      361 lgptlkptla trtaqpdhtq aptkqeaggg fvlpppgtdl vflregassp vqvpgpvaas
      421 teallqeaqc sglswvvalp qvkqekadtq dewtpgtavl tspvlvpgcp skavdpglps
      481 vkqeppdpee dkeenkddsa sklapeeeag gagtpvitei fslggtrfrd tavwlprhsg
      541 redgckvwet edtveptsts wnprgwpgth vslspppasm mwvscrrswc pssqs
//
LOCUS       NP_001399005             713 aa            linear   PRI 01-JAN-2023
DEFINITION  breast cancer anti-estrogen resistance protein 3 isoform 19 [Homo
            sapiens].
ACCESSION   NP_001399005
VERSION     NP_001399005.1
DBSOURCE    REFSEQ: accession NM_001412076.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 713)
  AUTHORS   Pavanelli AC, Mangone FR, Yoganathan P, Bessa SA, Nonogaki S, de
            Toledo Osorio CAB, de Andrade VP, Soares IC, de Mello ES, Mulligan
            LM and Nagai MA.
  TITLE     Comprehensive immunohistochemical analysis of RET, BCAR1, and BCAR3
            expression in patients with Luminal A and B breast cancer subtypes
  JOURNAL   Breast Cancer Res Treat 192 (1), 43-52 (2022)
   PUBMED   35031902
  REMARK    GeneRIF: Comprehensive immunohistochemical analysis of RET, BCAR1,
            and BCAR3 expression in patients with Luminal A and B breast cancer
            subtypes.
REFERENCE   2  (residues 1 to 713)
  AUTHORS   Steenkiste EM, Berndt JD, Pilling C, Simpkins C and Cooper JA.
  TITLE     A Cas-BCAR3 co-regulatory circuit controls lamellipodia dynamics
  JOURNAL   Elife 10, e67078 (2021)
   PUBMED   34169835
  REMARK    GeneRIF: A Cas-BCAR3 co-regulatory circuit controls lamellipodia
            dynamics.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 713)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 713)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 713)
  AUTHORS   Pan Z, Zhu Q, You W, Shen C, Hu W and Chen X.
  TITLE     Silencing of Mig-7 expression inhibits in-vitro invasiveness and
            vasculogenic mimicry of human glioma U87 Cells
  JOURNAL   Neuroreport 30 (17), 1135-1142 (2019)
   PUBMED   31688418
  REMARK    GeneRIF: this study indicates that the expression of Mig-7 in
            gliomas is positively correlated with vasculogenic mimicry
            formation and is related to the glioma pathological grade
REFERENCE   6  (residues 1 to 713)
  AUTHORS   Cai D, Felekkis KN, Near RI, O'Neill GM, van Seventer JM, Golemis
            EA and Lerner A.
  TITLE     The GDP exchange factor AND-34 is expressed in B cells, associates
            with HEF1, and activates Cdc42
  JOURNAL   J Immunol 170 (2), 969-978 (2003)
   PUBMED   12517963
REFERENCE   7  (residues 1 to 713)
  AUTHORS   Lu Y, Brush J and Stewart TA.
  TITLE     NSP1 defines a novel family of adaptor proteins linking integrin
            and tyrosine kinase receptors to the c-Jun N-terminal
            kinase/stress-activated protein kinase signaling pathway
  JOURNAL   J Biol Chem 274 (15), 10047-10052 (1999)
   PUBMED   10187783
REFERENCE   8  (residues 1 to 713)
  AUTHORS   van Agthoven T, van Agthoven TL, Dekker A, van der Spek PJ, Vreede
            L and Dorssers LC.
  TITLE     Identification of BCAR3 by a random search for genes involved in
            antiestrogen resistance of human breast cancer cells
  JOURNAL   EMBO J 17 (10), 2799-2808 (1998)
   PUBMED   9582273
REFERENCE   9  (residues 1 to 713)
  AUTHORS   Johnston SR.
  TITLE     Acquired tamoxifen resistance in human breast cancer--potential
            mechanisms and clinical implications
  JOURNAL   Anticancer Drugs 8 (10), 911-930 (1997)
   PUBMED   9436634
  REMARK    Review article
REFERENCE   10 (residues 1 to 713)
  AUTHORS   Dorssers LC and van Agthoven T.
  TITLE     Genetic mechanisms of estrogen-independence in breast cancer
  JOURNAL   Pathol Res Pract 192 (7), 743-751 (1996)
   PUBMED   8880875
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL109613.11.
            
            Summary: Breast tumors are initially dependent on estrogens for
            growth and progression and can be inhibited by anti-estrogens such
            as tamoxifen. However, breast cancers progress to become
            anti-estrogen resistant. Breast cancer anti-estrogen resistance
            gene 3 was identified in the search for genes involved in the
            development of estrogen resistance. The gene encodes a component of
            intracellular signal transduction that causes estrogen-independent
            proliferation in human breast cancer cells. The protein contains a
            putative src homology 2 (SH2) domain, a hall mark of cellular
            tyrosine kinase signaling molecules, and is partly homologous to
            the cell division cycle protein CDC48. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, May 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.350857.1,
                                           SRR14038196.829380.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..713
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.1"
     Protein         1..713
                     /product="breast cancer anti-estrogen resistance protein 3
                     isoform 19"
                     /note="breast cancer anti-estrogen resistance protein 3;
                     dJ1033H22.2 (breast cancer anti-estrogen resistance 3);
                     novel SH2-containing protein 2; SH2 domain-containing
                     protein 3B; breast cancer antiestrogen resistance 3
                     protein; epididymis secretory sperm binding protein;
                     BCAR3, NSP family adaptor protein; mig-7; migration
                     inducting gene-7"
                     /calculated_mol_wt=79872
     Region          35..170
                     /region_name="SH2_BCAR3"
                     /note="Src homology 2 (SH2) domain in the Breast Cancer
                     Anti-estrogen Resistance protein 3; cd10337"
                     /db_xref="CDD:198200"
     Site            order(49,65,86,88)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198200"
     Site            order(87,122)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198200"
     Region          432..707
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases; smart00147"
                     /db_xref="CDD:214539"
     Site            order(467..469,483..484,486..488,490..491,494..495,498,
                     533,536..537,539..541,543..546,548..549,566,571..573,576,
                     597..599,602..604,606..608,610..613,627,631,672,675..676)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     CDS             1..713
                     /gene="BCAR3"
                     /gene_synonym="AND-34; MIG7; NSP2; SH2D3B"
                     /coded_by="NM_001412076.1:3084..5225"
                     /note="isoform 19 is encoded by transcript variant 35"
                     /db_xref="GeneID:8412"
                     /db_xref="HGNC:HGNC:973"
                     /db_xref="MIM:604704"
ORIGIN      
        1 mvdsvlqfsk erhimdrtpe klkkeleeel llssedlrsh awyhgriprq vsenlvqrdg
       61 dflvrdslss pgnfvltcqw knlaqhfkin rtvlrlseay srvqyqfeme sfdsipglvr
      121 cyvgnrrpis qqsgaiifqp inrtvplrcl eehygtspgq aregsltkgr pdvakrlslt
      181 mggvqareqn lprgnllrnk eksgsqpacl dhmqdrrals lkahqsesyl pigcklppqs
      241 sgvdtspcpn spvfrtgsep alspavvrrv ssdarageal rgsdsqlcpk pppkpckvpf
      301 lkvpsspsaw lnseanycel npafatgcgr gaklpscaqg shtelltakq neapgprnsg
      361 vnylildddd rerpwepaaa qmekgqwdkg efvtplletv ssfrpnefes kflppenkpl
      421 etamlkrake lftnndpkvi aqhvlsmdcr varilgvsee mrrnmgvssg lelitlphgh
      481 qlrldiierh ntmaigiavd ilgctgtled raatlskiiq vavelkdsmg dlysfsalmk
      541 alempqitrl ektwtalrhq ytqtailyek qlkpfskllh egrestcvpp nnvsvpllmp
      601 lvtlmerqav tfegtdmwek ndqsceimln hlatarfmae aadsyrmnae rilagfqpde
      661 emneicktef qmrllwgskg aqvnqterye kfnqiltals rklepppvkq ael
//
LOCUS       NP_005974                424 aa            linear   PRI 01-JAN-2023
DEFINITION  S-phase kinase-associated protein 2 isoform 1 [Homo sapiens].
ACCESSION   NP_005974
VERSION     NP_005974.2
DBSOURCE    REFSEQ: accession NM_005983.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 424)
  AUTHORS   Neudorf NM, Thompson LL, Lichtensztejn Z, Razi T and McManus KJ.
  TITLE     Reduced SKP2 Expression Adversely Impacts Genome Stability and
            Promotes Cellular Transformation in Colonic Epithelial Cells
  JOURNAL   Cells 11 (23), 3731 (2022)
   PUBMED   36496990
  REMARK    GeneRIF: Reduced SKP2 Expression Adversely Impacts Genome Stability
            and Promotes Cellular Transformation in Colonic Epithelial Cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 424)
  AUTHORS   Lohmuller M, Roeck BF, Szabo TG, Schapfl MA, Pegka F, Herzog S,
            Villunger A and Schuler F.
  TITLE     The SKP2-p27 axis defines susceptibility to cell death upon CHK1
            inhibition
  JOURNAL   Mol Oncol 16 (15), 2771-2787 (2022)
   PUBMED   35673965
  REMARK    GeneRIF: The SKP2-p27 axis defines susceptibility to cell death
            upon CHK1 inhibition.
REFERENCE   3  (residues 1 to 424)
  AUTHORS   Tong Y and Jin L.
  TITLE     miR-590-5p Targets Skp2 to Inhibit the Growth and Invasion of
            Malignant Melanoma Cells
  JOURNAL   Dis Markers 2022, 8723725 (2022)
   PUBMED   35845132
  REMARK    GeneRIF: miR-590-5p Targets Skp2 to Inhibit the Growth and Invasion
            of Malignant Melanoma Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 424)
  AUTHORS   Hodeib H, Abd El Hai D, Tawfik MA, Allam AA, Selim AF, Sarhan ME,
            Selim A, Sabry NM, Mansour W and Youssef A.
  TITLE     The Impact of SKP2 Gene Expression in Chronic Myeloid Leukemia
  JOURNAL   Genes (Basel) 13 (6), 948 (2022)
   PUBMED   35741710
  REMARK    GeneRIF: The Impact of SKP2 Gene Expression in Chronic Myeloid
            Leukemia.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 424)
  AUTHORS   Dan W, Zhong L, Zhang Z, Wan P, Lu Y, Wang X, Liu Z, Chu X and Liu
            B.
  TITLE     RIP1-dependent Apoptosis and Differentiation Regulated by Skp2 and
            Akt/GSK3beta in Acute Myeloid Leukemia
  JOURNAL   Int J Med Sci 19 (3), 525-536 (2022)
   PUBMED   35370472
  REMARK    GeneRIF: RIP1-dependent Apoptosis and Differentiation Regulated by
            Skp2 and Akt/GSK3beta in Acute Myeloid Leukemia.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 424)
  AUTHORS   Yam CH, Ng RW, Siu WY, Lau AW and Poon RY.
  TITLE     Regulation of cyclin A-Cdk2 by SCF component Skp1 and F-box protein
            Skp2
  JOURNAL   Mol Cell Biol 19 (1), 635-645 (1999)
   PUBMED   9858587
REFERENCE   7  (residues 1 to 424)
  AUTHORS   Ng RW, Arooz T, Yam CH, Chan IW, Lau AW and Poon RY.
  TITLE     Characterization of the cullin and F-box protein partner Skp1
  JOURNAL   FEBS Lett 438 (3), 183-189 (1998)
   PUBMED   9827542
REFERENCE   8  (residues 1 to 424)
  AUTHORS   Lisztwan J, Marti A, Sutterluty H, Gstaiger M, Wirbelauer C and
            Krek W.
  TITLE     Association of human CUL-1 and ubiquitin-conjugating enzyme CDC34
            with the F-box protein p45(SKP2): evidence for evolutionary
            conservation in the subunit composition of the CDC34-SCF pathway
  JOURNAL   EMBO J 17 (2), 368-383 (1998)
   PUBMED   9430629
REFERENCE   9  (residues 1 to 424)
  AUTHORS   Demetrick DJ, Zhang H and Beach DH.
  TITLE     Chromosomal mapping of the genes for the human CDK2/cyclin
            A-associated proteins p19 (SKP1A and SKP1B) and p45 (SKP2)
  JOURNAL   Cytogenet Cell Genet 73 (1-2), 104-107 (1996)
   PUBMED   8646875
REFERENCE   10 (residues 1 to 424)
  AUTHORS   Zhang H, Kobayashi R, Galaktionov K and Beach D.
  TITLE     p19Skp1 and p45Skp2 are essential elements of the cyclin A-CDK2 S
            phase kinase
  JOURNAL   Cell 82 (6), 915-925 (1995)
   PUBMED   7553852
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA223617.1, AB050979.1,
            AK296223.1, AC008942.6 and CA415778.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 22, 2001 this sequence version replaced NP_005974.1.
            
            Summary: This gene encodes a member of the F-box protein family
            which is characterized by an approximately 40 amino acid motif, the
            F-box. The F-box proteins constitute one of the four subunits of
            ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box),
            which function in phosphorylation-dependent ubiquitination. The
            F-box proteins are divided into 3 classes: Fbws containing WD-40
            domains, Fbls containing leucine-rich repeats, and Fbxs containing
            either different protein-protein interaction modules or no
            recognizable motifs. The protein encoded by this gene belongs to
            the Fbls class; in addition to an F-box, this protein contains 10
            tandem leucine-rich repeats. This protein is an essential element
            of the cyclin A-CDK2 S-phase kinase. It specifically recognizes
            phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also
            referred to as p27 or KIP1) predominantly in S phase and interacts
            with S-phase kinase-associated protein 1 (SKP1 or p19). In
            addition, this gene is established as a protooncogene causally
            involved in the pathogenesis of lymphomas. Alternative splicing of
            this gene generates three transcript variants encoding different
            isoforms. [provided by RefSeq, Jul 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.170022.1,
                                           SRR1660809.217904.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274255.11/ ENSP00000274255.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..424
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     Protein         1..424
                     /product="S-phase kinase-associated protein 2 isoform 1"
                     /note="CDK2/cyclin A-associated protein p45; p45skp2;
                     F-box/LRR-repeat protein 1; S-phase kinase-associated
                     protein 2, E3 ubiquitin protein ligase"
                     /calculated_mol_wt=47630
     Region          1..220
                     /region_name="Mediates interaction with hepatitis C virus
                     non-structural protein NS5A.
                     /evidence=ECO:0000269|PubMed:27194766"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13309.2)"
     Region          39..73
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13309.2)"
     Site            64
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13309.2)"
     Region          67..73
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000269|PubMed:22770219"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13309.2)"
     Site            68
                     /site_type="acetylation"
                     /note="N6-acetyllysine, by p300/EP300.
                     /evidence=ECO:0000269|PubMed:22770219; propagated from
                     UniProtKB/Swiss-Prot (Q13309.2)"
     Site            71
                     /site_type="acetylation"
                     /note="N6-acetyllysine, by p300/EP300.
                     /evidence=ECO:0000269|PubMed:22770219; propagated from
                     UniProtKB/Swiss-Prot (Q13309.2)"
     Site            72
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13309.2)"
     Site            75
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13309.2)"
     Region          97..137
                     /region_name="F-box_FBXL1"
                     /note="F-box domain found in F-box/LRR-repeat protein 1
                     (FBXL1) and similar proteins; cd22114"
                     /db_xref="CDD:438886"
     Site            order(97,99..104,107..108,112,116,119..120,123,127,134)
                     /site_type="other"
                     /note="Skp1/Cul1 binding site [polypeptide binding]"
                     /db_xref="CDD:438886"
     Site            179
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13309.2)"
     Region          183..207
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          193..>345
                     /region_name="AMN1"
                     /note="Antagonist of mitotic exit network protein 1;
                     cd09293"
                     /db_xref="CDD:187754"
     Region          208..231
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          210..234
                     /region_name="LRR 3.
                     /evidence=ECO:0000269|PubMed:11099048"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13309.2)"
     Region          232..257
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          235..257
                     /region_name="LRR 4.
                     /evidence=ECO:0000269|PubMed:11099048"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13309.2)"
     Region          258..284
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          258..284
                     /region_name="LRR 5.
                     /evidence=ECO:0000269|PubMed:11099048"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13309.2)"
     Region          285..311
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          286..308
                     /region_name="LRR 6.
                     /evidence=ECO:0000269|PubMed:11099048"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13309.2)"
     Region          309..330
                     /region_name="LRR 7.
                     /evidence=ECO:0000269|PubMed:11099048"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13309.2)"
     Region          312..336
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          334..356
                     /region_name="LRR 8.
                     /evidence=ECO:0000269|PubMed:11099048"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13309.2)"
     Region          337..356
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          359..378
                     /region_name="LRR 9.
                     /evidence=ECO:0000269|PubMed:11099048"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13309.2)"
     Region          365..392
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          380..401
                     /region_name="LRR 10.
                     /evidence=ECO:0000269|PubMed:11099048"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13309.2)"
     Region          402..424
                     /region_name="Mediates interaction with IFI27.
                     /evidence=ECO:0000269|PubMed:27194766"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13309.2)"
     CDS             1..424
                     /gene="SKP2"
                     /gene_synonym="FBL1; FBXL1; FLB1; p45"
                     /coded_by="NM_005983.4:153..1427"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS3916.1"
                     /db_xref="GeneID:6502"
                     /db_xref="HGNC:HGNC:10901"
                     /db_xref="MIM:601436"
ORIGIN      
        1 mhrkhlqeip dlssnvatsf twgwdsskts ellsgmgvsa lekeepdsen ipqellsnlg
       61 hpespprkrl kskgsdkdfv ivrrpklnre nfpgvswdsl pdelllgifs clclpellkv
      121 sgvckrwyrl asdeslwqtl dltgknlhpd vtgrllsqgv iafrcprsfm dqplaehfsp
      181 frvqhmdlsn svievstlhg ilsqcsklqn lsleglrlsd pivntlakns nlvrlnlsgc
      241 sgfsefalqt llsscsrlde lnlswcfdft ekhvqvavah vsetitqlnl sgyrknlqks
      301 dlstlvrrcp nlvhldlsds vmlkndcfqe ffqlnylqhl slsrcydiip etllelgeip
      361 tlktlqvfgi vpdgtlqllk ealphlqinc shfttiarpt ignkknqeiw gikcrltlqk
      421 pscl
//
LOCUS       NP_001186759             485 aa            linear   PRI 22-JAN-2023
DEFINITION  heparanase isoform 3 preproprotein [Homo sapiens].
ACCESSION   NP_001186759
VERSION     NP_001186759.1
DBSOURCE    REFSEQ: accession NM_001199830.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 485)
  AUTHORS   van der Velden AIM, van den Berg BM, van den Born BJ, Galenkamp H,
            Ijpelaar DHT and Rabelink TJ.
  TITLE     Ethnic differences in urinary monocyte chemoattractant protein-1
            and heparanase-1 levels in individuals with type 2 diabetes: the
            HELIUS study
  JOURNAL   BMJ Open Diabetes Res Care 10 (6) (2022)
   PUBMED   36564084
  REMARK    GeneRIF: Ethnic differences in urinary monocyte chemoattractant
            protein-1 and heparanase-1 levels in individuals with type 2
            diabetes: the HELIUS study.
REFERENCE   2  (residues 1 to 485)
  AUTHORS   Xiong T, Lv XS, Wu GJ, Guo YX, Liu C, Hou FX, Wang JK, Fu YF and
            Liu FQ.
  TITLE     Single-Cell Sequencing Analysis and Multiple Machine Learning
            Methods Identified G0S2 and HPSE as Novel Biomarkers for Abdominal
            Aortic Aneurysm
  JOURNAL   Front Immunol 13, 907309 (2022)
   PUBMED   35769488
  REMARK    GeneRIF: Single-Cell Sequencing Analysis and Multiple Machine
            Learning Methods Identified G0S2 and HPSE as Novel Biomarkers for
            Abdominal Aortic Aneurysm.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 485)
  AUTHORS   Koujah L, Madavaraju K, Agelidis AM, Patil CD and Shukla D.
  TITLE     Heparanase-Induced Activation of AKT Stabilizes beta-Catenin and
            Modulates Wnt/beta-Catenin Signaling during Herpes Simplex Virus 1
            Infection
  JOURNAL   mBio 12 (6), e0279221 (2021)
   PUBMED   34749529
  REMARK    GeneRIF: Heparanase-Induced Activation of AKT Stabilizes
            beta-Catenin and Modulates Wnt/beta-Catenin Signaling during Herpes
            Simplex Virus 1 Infection.
REFERENCE   4  (residues 1 to 485)
  AUTHORS   Ostrovsky O, Beider K, Morgulis Y, Bloom N, Cid-Arregui A, Shimoni
            A, Vlodavsky I and Nagler A.
  TITLE     CMV Seropositive Status Increases Heparanase SNPs Regulatory
            Activity, Risk of Acute GVHD and Yield of CD34+ Cell Mobilization
  JOURNAL   Cells 10 (12), 3489 (2021)
   PUBMED   34943994
  REMARK    GeneRIF: CMV Seropositive Status Increases Heparanase SNPs
            Regulatory Activity, Risk of Acute GVHD and Yield of CD34(+) Cell
            Mobilization.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 485)
  AUTHORS   Zhi S, Li J, Kong X, Xie X, Zhang Q and Fang G.
  TITLE     Insulin-like growth factor 2 mRNA binding protein 2 regulates
            proliferation, migration, and angiogenesis of keratinocytes by
            modulating heparanase stability
  JOURNAL   Bioengineered 12 (2), 11267-11276 (2021)
   PUBMED   34753397
  REMARK    GeneRIF: Insulin-like growth factor 2 mRNA binding protein 2
            regulates proliferation, migration, and angiogenesis of
            keratinocytes by modulating heparanase stability.
REFERENCE   6  (residues 1 to 485)
  AUTHORS   Nasser NJ, Avivi A, Shushy M, Vlodavsky I and Nevo E.
  TITLE     Cloning, expression, and characterization of an alternatively
            spliced variant of human heparanase
  JOURNAL   Biochem Biophys Res Commun 354 (1), 33-38 (2007)
   PUBMED   17208203
  REMARK    GeneRIF: Splice 5 escaped proteolytic cleavage, was devoid of HS
            degradation activity and exhibited diffused rather than granular
            cellular localization.
REFERENCE   7  (residues 1 to 485)
  AUTHORS   Kussie PH, Hulmes JD, Ludwig DL, Patel S, Navarro EC, Seddon AP,
            Giorgio NA and Bohlen P.
  TITLE     Cloning and functional expression of a human heparanase gene
  JOURNAL   Biochem Biophys Res Commun 261 (1), 183-187 (1999)
   PUBMED   10405343
REFERENCE   8  (residues 1 to 485)
  AUTHORS   Hulett MD, Freeman C, Hamdorf BJ, Baker RT, Harris MJ and Parish
            CR.
  TITLE     Cloning of mammalian heparanase, an important enzyme in tumor
            invasion and metastasis
  JOURNAL   Nat Med 5 (7), 803-809 (1999)
   PUBMED   10395326
REFERENCE   9  (residues 1 to 485)
  AUTHORS   Vlodavsky I, Friedmann Y, Elkin M, Aingorn H, Atzmon R,
            Ishai-Michaeli R, Bitan M, Pappo O, Peretz T, Michal I, Spector L
            and Pecker I.
  TITLE     Mammalian heparanase: gene cloning, expression and function in
            tumor progression and metastasis
  JOURNAL   Nat Med 5 (7), 793-802 (1999)
   PUBMED   10395325
REFERENCE   10 (residues 1 to 485)
  AUTHORS   Pikas DS, Li JP, Vlodavsky I and Lindahl U.
  TITLE     Substrate specificity of heparanases from human hepatoma and
            platelets
  JOURNAL   J Biol Chem 273 (30), 18770-18777 (1998)
   PUBMED   9668050
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC114781.2, AM419200.1 and
            AW293069.1.
            
            Summary: Heparan sulfate proteoglycans are major components of the
            basement membrane and extracellular matrix. The protein encoded by
            this gene is an enzyme that cleaves heparan sulfate proteoglycans
            to permit cell movement through remodeling of the extracellular
            matrix. In addition, this cleavage can release bioactive molecules
            from the extracellular matrix. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Sep 2011].
            
            Transcript Variant: This variant (4) lacks an in-frame exon in the
            5' coding region compared to variant 1. The resulting protein
            (isoform 3) is shorter but has the identical N- and C- termini
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AM419200.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..485
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.23"
     Protein         1..485
                     /product="heparanase isoform 3 preproprotein"
                     /EC_number="3.2.1.166"
                     /note="heparanase-1; endo-glucoronidase"
                     /calculated_mol_wt=51154
     sig_peptide     1..35
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3598
     proprotein      36..485
                     /product="heparanase isoform 3 proprotein"
                     /calculated_mol_wt=51154
     mat_peptide     36..109
                     /product="heparanase 8 kDa subunit"
                     /calculated_mol_wt=8265
     mat_peptide     158..485
                     /product="heparanase 50 kDa subunit isoform 3"
                     /calculated_mol_wt=36965
     Region          <179..312
                     /region_name="Glyco_hydro_79n"
                     /note="Glycosyl hydrolase family 79, N-terminal domain;
                     pfam03662"
                     /db_xref="CDD:427433"
     CDS             1..485
                     /gene="HPSE"
                     /gene_synonym="HPA; HPA1; HPR1; HPSE1; HSE1"
                     /coded_by="NM_001199830.1:32..1489"
                     /note="isoform 3 preproprotein is encoded by transcript
                     variant 4"
                     /db_xref="CCDS:CCDS56337.1"
                     /db_xref="GeneID:10855"
                     /db_xref="HGNC:HGNC:5164"
                     /db_xref="MIM:604724"
ORIGIN      
        1 mllrskpalp pplmllllgp lgplspgalp rpaqaqdvvd ldfftqeplh lvspsflsvt
       61 idanlatdpr flillgspkl rtlarglspa ylrfggtktd flifdpkkes tfeersywqs
      121 qvnqdickyg sippdveekl rlewpyqeql llrehyqkkf knstyskpns flkkadifin
      181 gsqlgedfiq lhkllrkstf knaklygpdv gqprrktakm lksflkagge vidsvtwhhy
      241 ylngrtatke dflnpdvldi fissvqkvfq vvestrpgkk vwlgetssay gggapllsdt
      301 faagfmwldk lglsarmgie vvmrqvffga gnyhlvdenf dplpdywlsl lfkklvgtkv
      361 lmasvqgskr rklrvylhct ntdnprykeg dltlyainlh nvtkylrlpy pfsnkqvdky
      421 llrplgphgl lsksvqlngl tlkmvddqtl pplmekplrp gsslglpafs ysffvirnak
      481 vaaci
//
LOCUS       NP_001316057             356 aa            linear   PRI 22-JAN-2023
DEFINITION  interferon gamma receptor 2 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001316057 XP_005261026
VERSION     NP_001316057.1
DBSOURCE    REFSEQ: accession NM_001329128.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 356)
  AUTHORS   Zhang Q, Zheng Y, Liu J, Tang X, Wang Y, Li X, Li H, Zhou X, Tang
            S, Tang Y, Wang X, He H and Li T.
  TITLE     CircIFNGR2 enhances proliferation and migration of CRC and induces
            cetuximab resistance by indirectly targeting KRAS via sponging to
            MiR-30b
  JOURNAL   Cell Death Dis 14 (1), 24 (2023)
   PUBMED   36639711
  REMARK    GeneRIF: CircIFNGR2 enhances proliferation and migration of CRC and
            induces cetuximab resistance by indirectly targeting KRAS via
            sponging to MiR-30b.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 356)
  AUTHORS   Balistreri CR, Ammoscato CL, Scola L, Fragapane T, Giarratana RM,
            Lio D and Piccione M.
  TITLE     Susceptibility to Heart Defects in Down Syndrome Is Associated with
            Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor
            Cluster and VEGFA Genes
  JOURNAL   Genes (Basel) 11 (12), 1428 (2020)
   PUBMED   33260695
  REMARK    GeneRIF: Susceptibility to Heart Defects in Down Syndrome Is
            Associated with Single Nucleotide Polymorphisms in HAS 21
            Interferon Receptor Cluster and VEGFA Genes.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 356)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 356)
  AUTHORS   Oleaga-Quintas C, Deswarte C, Moncada-Velez M, Metin A, Krishna Rao
            I, Kanik-Yuksek S, Nieto-Patlan A, Guerin A, Gulhan B, Murthy S,
            Ozkaya-Parlakay A, Abel L, Martinez-Barricarte R, Perez de Diego R,
            Boisson-Dupuis S, Kong XF, Casanova JL and Bustamante J.
  TITLE     A purely quantitative form of partial recessive IFN-gammaR2
            deficiency caused by mutations of the initiation or second codon
  JOURNAL   Hum Mol Genet 27 (22), 3919-3935 (2018)
   PUBMED   31222290
  REMARK    GeneRIF: A purely quantitative form of partial recessive
            IFN-gammaR2 deficiency caused by mutations of the initiation or
            second codon.
            Erratum:[Hum Mol Genet. 2019 Feb 1;28(3):524. PMID: 30329057]
REFERENCE   5  (residues 1 to 356)
  AUTHORS   Shalia K, Saranath D, Rayar J, Shah VK, Mashru MR and Soneji SL.
  TITLE     Identification of a single nucleotide polymorphism indicative of
            high risk in acute myocardial infarction
  JOURNAL   Indian J Med Res 146 (4), 505-513 (2017)
   PUBMED   29434065
  REMARK    GeneRIF: The study identified an SNP rs9978223 on IFNGR2 gene,
            associated with increased risk in acute myocardial
            infarctionpatient from India.
REFERENCE   6  (residues 1 to 356)
  AUTHORS   Kotenko SV, Izotova LS, Pollack BP, Mariano TM, Donnelly RJ,
            Muthukumaran G, Cook JR, Garotta G, Silvennoinen O, Ihle JN et al.
  TITLE     Interaction between the components of the interferon gamma receptor
            complex
  JOURNAL   J Biol Chem 270 (36), 20915-20921 (1995)
   PUBMED   7673114
REFERENCE   7  (residues 1 to 356)
  AUTHORS   Igarashi K, Garotta G, Ozmen L, Ziemiecki A, Wilks AF, Harpur AG,
            Larner AC and Finbloom DS.
  TITLE     Interferon-gamma induces tyrosine phosphorylation of
            interferon-gamma receptor and regulated association of protein
            tyrosine kinases, Jak1 and Jak2, with its receptor
  JOURNAL   J Biol Chem 269 (20), 14333-14336 (1994)
   PUBMED   7514165
REFERENCE   8  (residues 1 to 356)
  AUTHORS   Soh J, Donnelly RJ, Kotenko S, Mariano TM, Cook JR, Wang N, Emanuel
            S, Schwartz B, Miki T and Pestka S.
  TITLE     Identification and sequence of an accessory factor required for
            activation of the human interferon gamma receptor
  JOURNAL   Cell 76 (5), 793-802 (1994)
   PUBMED   8124716
REFERENCE   9  (residues 1 to 356)
  AUTHORS   Langer JA, Rashidbaigi A, Lai LW, Patterson D and Jones C.
  TITLE     Sublocalization on chromosome 21 of human interferon-alpha receptor
            gene and the gene for an interferon-gamma response protein
  JOURNAL   Somat Cell Mol Genet 16 (3), 231-240 (1990)
   PUBMED   2141727
REFERENCE   10 (residues 1 to 356)
  AUTHORS   Luster AD, Weinshank RL, Feinman R and Ravetch JV.
  TITLE     Molecular and biochemical characterization of a novel
            gamma-interferon-inducible protein
  JOURNAL   J Biol Chem 263 (24), 12036-12043 (1988)
   PUBMED   3136170
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000299.2, AP000300.1 and
            BQ008968.1.
            On Jul 2, 2016 this sequence version replaced XP_005261026.1.
            
            Summary: This gene (IFNGR2) encodes the non-ligand-binding beta
            chain of the gamma interferon receptor. Human interferon-gamma
            receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2
            are a cause of mendelian susceptibility to mycobacterial disease
            (MSMD), also known as familial disseminated atypical mycobacterial
            infection. MSMD is a genetically heterogeneous disease with
            autosomal recessive, autosomal dominant or X-linked inheritance.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.259296.1,
                                           SRR18074968.4272853.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..356
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     Protein         1..356
                     /product="interferon gamma receptor 2 isoform 1 precursor"
                     /note="interferon gamma receptor accessory factor-1;
                     interferon gamma receptor beta chain; IFN-gamma-R2;
                     IFN-gamma receptor 2; interferon gamma transducer 1;
                     IFN-gamma-R-beta"
                     /calculated_mol_wt=37760
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2228
     Region          40..145
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cl21522"
                     /db_xref="CDD:451288"
     Region          160..256
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cl21522"
                     /db_xref="CDD:451288"
     CDS             1..356
                     /gene="IFNGR2"
                     /gene_synonym="AF-1; IFGR2; IFNGT1; IMD28"
                     /coded_by="NM_001329128.2:663..1733"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS82660.1"
                     /db_xref="GeneID:3460"
                     /db_xref="HGNC:HGNC:5440"
                     /db_xref="MIM:147569"
ORIGIN      
        1 mrptllwsll lllgvfaaaa aappaqltle tyqewcndsa athdplsqlp apqhpkirly
       61 naeqvlswep valsnstrpv vyqvqfkytd skwftadims igvnctqita tecdftaasp
      121 sagfpmdfnv tlrlraelga lhsawvtmpw fqhyrnvtvg ppenievtpg egsliirfss
      181 pfdiadtsta ffcyyvhywe kggiqqvkgp frsnsisldn lkpsrvyclq vqaqllwnks
      241 nifrvghlsn iscyetmada stelqqvili svgtfsllsv lagacfflvl kyrglikywf
      301 htppsiplqi eeylkdptqp ilealdkdss pkddvwdsvs iisfpekeqe dvlqtl
//
LOCUS       NP_001351183             248 aa            linear   PRI 22-JAN-2023
DEFINITION  heterogeneous nuclear ribonucleoprotein H isoform k [Homo sapiens].
ACCESSION   NP_001351183 XP_016864911
VERSION     NP_001351183.1
DBSOURCE    REFSEQ: accession NM_001364254.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 248)
  AUTHORS   Ouyang J, Li S, Sun W, Xiao X, Wang Y, Jiang Y and Zhang Q.
  TITLE     Variants in HNRNPH1 are associated with high myopia in humans and
            ocular coloboma in zebrafish
  JOURNAL   Clin Genet 102 (5), 424-433 (2022)
   PUBMED   35989590
  REMARK    GeneRIF: Variants in HNRNPH1 are associated with high myopia in
            humans and ocular coloboma in zebrafish.
REFERENCE   2  (residues 1 to 248)
  AUTHORS   Jiang F, Lang X, Chen N, Jin L, Liu L, Wei X, Pan J, Yu F, Blake A
            and Xiao S.
  TITLE     A novel HNRNPH1::ERG rearrangement in aggressive acute myeloid
            leukemia
  JOURNAL   Genes Chromosomes Cancer 61 (8), 503-508 (2022)
   PUBMED   35503261
  REMARK    GeneRIF: A novel HNRNPH1::ERG rearrangement in aggressive acute
            myeloid leukemia.
REFERENCE   3  (residues 1 to 248)
  AUTHORS   Yamazaki T, Liu L, Conlon EG and Manley JL.
  TITLE     Burkitt lymphoma-related TCF3 mutations alter TCF3 alternative
            splicing by disrupting hnRNPH1 binding
  JOURNAL   RNA Biol 17 (10), 1383-1390 (2020)
   PUBMED   32449435
  REMARK    GeneRIF: Burkitt lymphoma-related TCF3 mutations alter TCF3
            alternative splicing by disrupting hnRNPH1 binding.
REFERENCE   4  (residues 1 to 248)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 248)
  AUTHORS   Takahashi K, Fujiya M, Konishi H, Murakami Y, Iwama T, Sasaki T,
            Kunogi T, Sakatani A, Ando K, Ueno N, Kashima S, Moriichi K, Tanabe
            H and Okumura T.
  TITLE     Heterogenous Nuclear Ribonucleoprotein H1 Promotes Colorectal
            Cancer Progression through the Stabilization of mRNA of
            Sphingosine-1-Phosphate Lyase 1
  JOURNAL   Int J Mol Sci 21 (12), 4514 (2020)
   PUBMED   32630435
  REMARK    GeneRIF: Heterogenous Nuclear Ribonucleoprotein H1 Promotes
            Colorectal Cancer Progression through the Stabilization of mRNA of
            Sphingosine-1-Phosphate Lyase 1.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 248)
  AUTHORS   Gamberi C, Izaurralde E, Beisel C and Mattaj IW.
  TITLE     Interaction between the human nuclear cap-binding protein complex
            and hnRNP F
  JOURNAL   Mol Cell Biol 17 (5), 2587-2597 (1997)
   PUBMED   9111328
REFERENCE   7  (residues 1 to 248)
  AUTHORS   Honore B, Rasmussen HH, Vorum H, Dejgaard K, Liu X, Gromov P,
            Madsen P, Gesser B, Tommerup N and Celis JE.
  TITLE     Heterogeneous nuclear ribonucleoproteins H, H', and F are members
            of a ubiquitously expressed subfamily of related but distinct
            proteins encoded by genes mapping to different chromosomes
  JOURNAL   J Biol Chem 270 (48), 28780-28789 (1995)
   PUBMED   7499401
REFERENCE   8  (residues 1 to 248)
  AUTHORS   Matunis MJ, Xing J and Dreyfuss G.
  TITLE     The hnRNP F protein: unique primary structure, nucleic acid-binding
            properties, and subcellular localization
  JOURNAL   Nucleic Acids Res 22 (6), 1059-1067 (1994)
   PUBMED   7512260
REFERENCE   9  (residues 1 to 248)
  AUTHORS   Rasmussen HH, van Damme J, Puype M, Gesser B, Celis JE and
            Vandekerckhove J.
  TITLE     Microsequences of 145 proteins recorded in the two-dimensional gel
            protein database of normal human epidermal keratinocytes
  JOURNAL   Electrophoresis 13 (12), 960-969 (1992)
   PUBMED   1286667
REFERENCE   10 (residues 1 to 248)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC136604.2.
            On Jun 12, 2018 this sequence version replaced XP_016864911.1.
            
            Summary: This gene encodes a member of a subfamily of ubiquitously
            expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The
            hnRNPs are RNA binding proteins that complex with heterogeneous
            nuclear RNA. These proteins are associated with pre-mRNAs in the
            nucleus and appear to influence pre-mRNA processing and other
            aspects of mRNA metabolism and transport. While all of the hnRNPs
            are present in the nucleus, some may shuttle between the nucleus
            and the cytoplasm. The hnRNP proteins have distinct nucleic acid
            binding properties. The protein encoded by this gene has three
            repeats of quasi-RRM domains that bind to RNA and is very similar
            to the family member HNRPF. This gene may be associated with
            hereditary lymphedema type I. Alternatively spliced transcript
            variants have been described [provided by RefSeq, Mar 2012].
            
            Transcript Variant: This variant (32), as well as variants 33 and
            51, encodes isoform k.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.200539.1,
                                           SRR14038191.259386.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..248
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     Protein         1..248
                     /product="heterogeneous nuclear ribonucleoprotein H
                     isoform k"
                     /note="heterogeneous nuclear ribonucleoprotein H;
                     heterogeneous nuclear ribonucleoprotein H1 (H); epididymis
                     secretory sperm binding protein"
                     /calculated_mol_wt=26342
     Region          54..89
                     /region_name="zf-RNPHF"
                     /note="RNPHF zinc finger; pfam08080"
                     /db_xref="CDD:429823"
     Region          88..163
                     /region_name="RRM3_hnRNPH_hnRNPH2_hnRNPF"
                     /note="RNA recognition motif 3 (RRM3) found in
                     heterogeneous nuclear ribonucleoprotein hnRNP H, hnRNP H2,
                     hnRNP F and similar proteins; cd12734"
                     /db_xref="CDD:410133"
     CDS             1..248
                     /gene="HNRNPH1"
                     /gene_synonym="hnRNPH; HNRPH; HNRPH1; NEDCDS"
                     /coded_by="NM_001364254.2:532..1278"
                     /note="isoform k is encoded by transcript variant 32"
                     /db_xref="GeneID:3187"
                     /db_xref="HGNC:HGNC:5041"
                     /db_xref="MIM:601035"
ORIGIN      
        1 mamqrpgpyd rpgagrgyns igrgagferm rrgaygggyg gyddyngynd gygfgsdrfg
       61 rdlnycfsgm sdhrygdggs tfqsttghcv hmrglpyrat endiynffsp lnpvrvhiei
      121 gpdgrvtgea dvefatheda vaamskdkan mqhryvelfl nstagasgga yehryvelfl
      181 nstagasgga ygsqmmggmg lsnqssyggp asqqlsggyg ggyggqssms gydqvlqens
      241 sdfqsnia
//
LOCUS       NP_001371557             859 aa            linear   PRI 23-JAN-2023
DEFINITION  dipeptidyl peptidase 9 isoform 8 [Homo sapiens].
ACCESSION   NP_001371557
VERSION     NP_001371557.1
DBSOURCE    REFSEQ: accession NM_001384628.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 859)
  AUTHORS   Moecking J, Laohamonthonkul P, Mese K, Hagelueken G, Steiner A,
            Harapas CR, Sandow JJ, Graves JD, Masters SL and Geyer M.
  TITLE     Inflammasome sensor NLRP1 disease variant M1184V promotes
            autoproteolysis and DPP9 complex formation by stabilizing the FIIND
            domain
  JOURNAL   J Biol Chem 298 (12), 102645 (2022)
   PUBMED   36309085
  REMARK    GeneRIF: Inflammasome sensor NLRP1 disease variant M1184V promotes
            autoproteolysis and DPP9 complex formation by stabilizing the FIIND
            domain.
REFERENCE   2  (residues 1 to 859)
  AUTHORS   Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA,
            Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X,
            Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang
            B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P,
            Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe
            F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch
            C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras
            A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M,
            Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers
            C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM,
            Elliott P, Walsh T, Tenesa A, Fawkes A, Murphy L, Rowan K, Ponting
            CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry
            SC, Moutsianas L, Law A, Caulfield MJ and Baillie JK.
  CONSRTM   GenOMICC investigators; 23andMe investigators; COVID-19 Human
            Genetics Initiative
  TITLE     Whole-genome sequencing reveals host factors underlying critical
            COVID-19
  JOURNAL   Nature 607 (7917), 97-103 (2022)
   PUBMED   35255492
REFERENCE   3  (residues 1 to 859)
  AUTHORS   Sharif-Zak M, Abbasi-Jorjandi M, Asadikaram G, Ghoreshi ZA,
            Rezazadeh-Jabalbarzi M, Afsharipur A, Rashidinejad H, Khajepour F,
            Jafarzadeh A, Arefinia N, Kheyrkhah A and Abolhassani M.
  TITLE     CCR2 and DPP9 expression in the peripheral blood of COVID-19
            patients: Influences of the disease severity and gender
  JOURNAL   Immunobiology 227 (2), 152184 (2022)
   PUBMED   35131543
  REMARK    GeneRIF: CCR2 and DPP9 expression in the peripheral blood of
            COVID-19 patients: Influences of the disease severity and gender.
REFERENCE   4  (residues 1 to 859)
  AUTHORS   Sharif H, Hollingsworth LR, Griswold AR, Hsiao JC, Wang Q,
            Bachovchin DA and Wu H.
  TITLE     Dipeptidyl peptidase 9 sets a threshold for CARD8 inflammasome
            formation by sequestering its active C-terminal fragment
  JOURNAL   Immunity 54 (7), 1392-1404 (2021)
   PUBMED   34019797
  REMARK    GeneRIF: Dipeptidyl peptidase 9 sets a threshold for CARD8
            inflammasome formation by sequestering its active C-terminal
            fragment.
REFERENCE   5  (residues 1 to 859)
  AUTHORS   Zhang Y, Li K, Li Y, Zhao W, Wang L, Chen Z, Ma X, Yao T, Wang J,
            Dong W, Li X, Tian X and Fu R.
  TITLE     Profibrotic mechanisms of DPP8 and DPP9 highly expressed in the
            proximal renal tubule epithelial cells
  JOURNAL   Pharmacol Res 169, 105630 (2021)
   PUBMED   33932609
  REMARK    GeneRIF: Profibrotic mechanisms of DPP8 and DPP9 highly expressed
            in the proximal renal tubule epithelial cells.
REFERENCE   6  (residues 1 to 859)
  AUTHORS   Ogasawara W, Tanaka C, Suzuki M, Kobayashi G, Ogawa Y, Okada H and
            Morikawa Y.
  TITLE     Isoforms of dipeptidyl aminopeptidase IV from Pseudomonas sp. WO24:
            role of the signal sequence and overexpression in Escherichia coli
  JOURNAL   Protein Expr Purif 41 (2), 241-251 (2005)
   PUBMED   15866709
REFERENCE   7  (residues 1 to 859)
  AUTHORS   Ajami K, Abbott CA, McCaughan GW and Gorrell MD.
  TITLE     Dipeptidyl peptidase 9 has two forms, a broad tissue distribution,
            cytoplasmic localization and DPIV-like peptidase activity
  JOURNAL   Biochim Biophys Acta 1679 (1), 18-28 (2004)
   PUBMED   15245913
  REMARK    GeneRIF: identification of two forms, their tissue distribution,
            cytoplasmic localization
REFERENCE   8  (residues 1 to 859)
  AUTHORS   Qi SY, Riviere PJ, Trojnar J, Junien JL and Akinsanya KO.
  TITLE     Cloning and characterization of dipeptidyl peptidase 10, a new
            member of an emerging subgroup of serine proteases
  JOURNAL   Biochem J 373 (Pt 1), 179-189 (2003)
   PUBMED   12662155
REFERENCE   9  (residues 1 to 859)
  AUTHORS   Ajami K, Abbott CA, Obradovic M, Gysbers V, Kahne T, McCaughan GW
            and Gorrell MD.
  TITLE     Structural requirements for catalysis, expression, and dimerization
            in the CD26/DPIV gene family
  JOURNAL   Biochemistry 42 (3), 694-701 (2003)
   PUBMED   12534281
REFERENCE   10 (residues 1 to 859)
  AUTHORS   Olsen C and Wagtmann N.
  TITLE     Identification and characterization of human DPP9, a novel
            homologue of dipeptidyl peptidase IV
  JOURNAL   Gene 299 (1-2), 185-193 (2002)
   PUBMED   12459266
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005783.1 and AC005594.1.
            
            Summary: This gene encodes a protein that is a member of the S9B
            family in clan SC of the serine proteases. The protein has been
            shown to have post-proline dipeptidyl aminopeptidase activity,
            cleaving Xaa-Pro dipeptides from the N-termini of proteins.
            Although the activity of this protein is similar to that of
            dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane
            bound. In general, dipeptidyl peptidases appear to be involved in
            the regulation of the activity of their substrates and have been
            linked to a variety of diseases including type 2 diabetes, obesity
            and cancer. Several transcript variants of this gene have been
            described but not fully characterized. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (21), as well as variant 22,
            encodes isoform 8.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
                                   variant(s)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..859
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..859
                     /product="dipeptidyl peptidase 9 isoform 8"
                     /EC_number="3.4.14.5"
                     /note="dipeptidyl peptidase IV-related protein-2;
                     dipeptidyl peptidase IX; dipeptidyl peptidase-like protein
                     9"
                     /calculated_mol_wt=97059
     Region          <53..164
                     /region_name="Dpp_8_9_N"
                     /note="Dipeptidyl peptidase 8 and 9 N-terminal; pfam19520"
                     /db_xref="CDD:437352"
     Region          175..599
                     /region_name="DPPIV_N"
                     /note="Dipeptidyl peptidase IV (DPP IV) N-terminal region;
                     pfam00930"
                     /db_xref="CDD:395744"
     Region          <533..822
                     /region_name="DAP2"
                     /note="Dipeptidyl aminopeptidase/acylaminoacyl peptidase
                     [Amino acid transport and metabolism]; COG1506"
                     /db_xref="CDD:224423"
     CDS             1..859
                     /gene="DPP9"
                     /gene_synonym="DP9; DPLP9; DPP IX; DPRP-2; DPRP2"
                     /coded_by="NM_001384628.1:206..2785"
                     /note="isoform 8 is encoded by transcript variant 21"
                     /db_xref="GeneID:91039"
                     /db_xref="HGNC:HGNC:18648"
                     /db_xref="MIM:608258"
ORIGIN      
        1 mrkvkklrld kentgswrsf slnsegaerm attgtptadr gdaaatddpa arfqvqkhsw
       61 dglrsiihgs rkysglivnk aphdfqfvqk tdesgphshr lyylgmpygs rensllysei
      121 pkkvrkeall llswkqmldh fqatphhgvy sreeellrer krlgvfgits ydfhsesglf
      181 lfqasnslfh crdggkngfm vspmkpleik tqcsgprmdp kicpadpaff sfinnsdlwv
      241 anietgeerr ltfchqglsn vlddpksagv atfviqeefd rftgywwcpt aswegseglk
      301 tlrilyeevd esevevihvp spaleerktd syryprtgsk npkialklae fqtdsqgkiv
      361 stqekelvqp fsslfpkvey iaragwtrdg kyawamfldr pqqwlqlvll ppalfipste
      421 neeqrlasar avprnvqpyv vyeevtnvwi nvhdifypfp qsegedelcf lranecktgf
      481 chlykvtavl ksqgydwsep fspgedefkc pikeeialts gewevlarhg skiwvneetk
      541 lvyfqgtkdt plehhlyvvs yeaageivrl ttpgfshscs msqnfdmfvs hyssvstppc
      601 vhvyklsgpd ddplhkqprf wasmmeaasc ppdyvppeif hfhtrsdvrl ygmiykphal
      661 qpgkkhptvl fvyggpqvql vnnsfkgiky lrlntlaslg yavvvidgrg scqrglrfeg
      721 alknqmgqve iedqveglqf vaekygfidl srvaihgwsy ggflslmgli hkpqvfkvai
      781 agapvtvwma ydtgyterym dvpennqhgy eagsvalhve klpnepfpic fpgptaclss
      841 taswtktctf stqtssspn
//
LOCUS       NP_001363159             827 aa            linear   PRI 10-FEB-2023
DEFINITION  inactive rhomboid protein 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001363159
VERSION     NP_001363159.1
DBSOURCE    REFSEQ: accession NM_001376230.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 827)
  AUTHORS   Sieber B, Lu F, Stribbling SM, Grieve AG, Ryan AJ and Freeman M.
  TITLE     iRhom2 regulates ERBB signalling to promote KRAS-driven tumour
            growth of lung cancer cells
  JOURNAL   J Cell Sci 135 (17) (2022)
   PUBMED   35971826
  REMARK    GeneRIF: iRhom2 regulates ERBB signalling to promote KRAS-driven
            tumour growth of lung cancer cells.
REFERENCE   2  (residues 1 to 827)
  AUTHORS   Liu Y, Kuang Q, Dai X, Zhan M, Zhou L, Zhu L and Wang B.
  TITLE     Deficiency in Inactive Rhomboid Protein2 (iRhom2) Alleviates
            Alcoholic Liver Fibrosis by Suppressing Inflammation and Oxidative
            Stress
  JOURNAL   Int J Mol Sci 23 (14), 7701 (2022)
   PUBMED   35887045
  REMARK    GeneRIF: Deficiency in Inactive Rhomboid Protein2 (iRhom2)
            Alleviates Alcoholic Liver Fibrosis by Suppressing Inflammation and
            Oxidative Stress.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 827)
  AUTHORS   Louis TJ, Qasem A and Naser SA.
  TITLE     Attenuation of Excess TNF-alpha Release in Crohn's Disease by
            Silencing of iRHOMs 1/2 and the Restoration of TGF-beta Mediated
            Immunosuppression Through Modulation of TACE Trafficking
  JOURNAL   Front Immunol 13, 887830 (2022)
   PUBMED   35585977
  REMARK    GeneRIF: Attenuation of Excess TNF-alpha Release in Crohn's Disease
            by Silencing of iRHOMs 1/2 and the Restoration of TGF-beta Mediated
            Immunosuppression Through Modulation of TACE Trafficking.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 827)
  AUTHORS   Giese AA, Babendreyer A, Krappen P, Gross A, Strnad P, Dusterhoft S
            and Ludwig A.
  TITLE     Inflammatory activation of surface molecule shedding by
            upregulation of the pseudoprotease iRhom2 in colon epithelial cells
  JOURNAL   Sci Rep 11 (1), 24230 (2021)
   PUBMED   34930929
  REMARK    GeneRIF: Inflammatory activation of surface molecule shedding by
            upregulation of the pseudoprotease iRhom2 in colon epithelial
            cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 827)
  AUTHORS   Skurski J, Dixit G, Blobel CP, Issuree PD and Maretzky T.
  TITLE     The Threshold Effect: Lipopolysaccharide-Induced Inflammatory
            Responses in Primary Macrophages Are Differentially Regulated in an
            iRhom2-Dependent Manner
  JOURNAL   Front Cell Infect Microbiol 10, 620392 (2021)
   PUBMED   33585287
  REMARK    GeneRIF: The Threshold Effect: Lipopolysaccharide-Induced
            Inflammatory Responses in Primary Macrophages Are Differentially
            Regulated in an iRhom2-Dependent Manner.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 827)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (residues 1 to 827)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 827)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
REFERENCE   9  (residues 1 to 827)
  AUTHORS   Risk,J.M., Field,E.A., Field,J.K., Whittaker,J., Fryer,A.,
            Ellis,A., Shaw,J.M., Friedmann,P.S., Bishop,D.T., Bodmer,J. et al.
  TITLE     Tylosis oesophageal cancer mapped
  JOURNAL   Nat Genet 8 (4), 319-321 (1994)
   PUBMED   7534553
REFERENCE   10 (residues 1 to 827)
  AUTHORS   Sato K, Mano H, Ariyama T, Inazawa J, Yazaki Y and Hirai H.
  TITLE     Molecular cloning and analysis of the human Tec protein-tyrosine
            kinase
  JOURNAL   Leukemia 8 (10), 1663-1672 (1994)
   PUBMED   7934162
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC015802.21.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1745832.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..827
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     Protein         1..827
                     /product="inactive rhomboid protein 2 isoform 2"
                     /note="rhomboid family member 2; inactive rhomboid protein
                     2; rhomboid veinlet-like protein 5; rhomboid veinlet-like
                     protein 6"
                     /calculated_mol_wt=93249
     Region          99..282
                     /region_name="Rhomboid_SP"
                     /note="Rhomboid serine protease; pfam12595"
                     /db_xref="CDD:432658"
     Region          619..762
                     /region_name="Rhomboid"
                     /note="Rhomboid family; pfam01694"
                     /db_xref="CDD:426384"
     CDS             1..827
                     /gene="RHBDF2"
                     /gene_synonym="iRhom2; RHBDL5; RHBDL6; TOC; TOCG"
                     /coded_by="NM_001376230.1:503..2986"
                     /note="isoform 2 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS32744.1"
                     /db_xref="GeneID:79651"
                     /db_xref="HGNC:HGNC:20788"
                     /db_xref="MIM:614404"
ORIGIN      
        1 masadknggs vssvsssrlq srkppnlsit ipppeketqa pgeqdsmlpe rknpaylksv
       61 slqeprsrwq essekrpgfr rqaslsqsir kgaaqwfgvs gdwegqrqqw qrrslhhcsm
      121 rygrlkascq rdlelpsqea psfqgtespk pckmpkivdp largrafrhp eemdrphaph
      181 ppltpgvlsl tsftsvrsgy shlprrkrms vahmslqaaa allkgrsvld atgqrcrvvk
      241 rsfafpsfle edvvdgadtf dssffskeem ssmpddvfes pplsasyfrg iphsaspvsp
      301 dgvqiplkey grapvpgprr gkriaskvkh fafdrkkrhy glgvvgnwln rsyrrsisst
      361 vqrqlesfds hrpyftywlt fvhviitllv ictygiapvg faqhvttqlv lrnkgvyesv
      421 kyiqqenfwv gpssidlihl gakfspcirk dgqieqlvlr erdlerdsgc cvqndhsgci
      481 qtqrkdcset latfvkwqdd tgppmdksdl gqkrtsgavc hqdprtceep assgahiwpd
      541 ditkwpicte qarsnhtgfl hmdceikgrp ccigtkgsce ittreycefm hgyfheeatl
      601 csqvhcldkv cgllpflnpe vpdqfyrlwl slflhagvvh clvsvvfqmt ilrdleklag
      661 whriaiifil sgitgnlasa iflpyraevg pagsqfglla clfvelfqsw pllerpwkaf
      721 lnlsaivlfl ficgllpwid niahifgfls glllafaflp yitfgtsdky rkralilvsl
      781 lafaglfaal vlwlyiypin wpwiehltcf pftsrfceky eldqvlh
//
LOCUS       NP_981946                149 aa            linear   PRI 19-FEB-2023
DEFINITION  stathmin isoform a [Homo sapiens].
ACCESSION   NP_981946
VERSION     NP_981946.1
DBSOURCE    REFSEQ: accession NM_203401.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 149)
  AUTHORS   Ozge Z, Sevil K, Ahmet Y, Hulya A and Sema A.
  TITLE     Stathmin 1 and p53 Expression in Cutaneous Squamous Cell Carcinoma
            and Precursor Lesions
  JOURNAL   Am J Dermatopathol 45 (3), 170-175 (2023)
   PUBMED   36749137
  REMARK    GeneRIF: Stathmin 1 and p53 Expression in Cutaneous Squamous Cell
            Carcinoma and Precursor Lesions.
REFERENCE   2  (residues 1 to 149)
  AUTHORS   Zhang ED, Li C, Fang Y, Li N, Xiao Z, Chen C, Wei B, Wang H, Xie J,
            Miao Y, Zeng Z and Huang H.
  TITLE     STMN1 as a novel prognostic biomarker in HCC correlating with
            immune infiltrates and methylation
  JOURNAL   World J Surg Oncol 20 (1), 301 (2022)
   PUBMED   36127700
  REMARK    GeneRIF: STMN1 as a novel prognostic biomarker in HCC correlating
            with immune infiltrates and methylation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 149)
  AUTHORS   Vadla P, Deepthi G, Julakanti V, Jahagirdar D, Meruva S and
            Tantravahi S.
  TITLE     Association of Stathmin (Op18) with TNM Staging and Grading of Oral
            Squamous Cell Carcinoma and Its Role in Tumor Progression
  JOURNAL   J Contemp Dent Pract 23 (5), 497-502 (2022)
   PUBMED   35986456
  REMARK    GeneRIF: Association of Stathmin (Op18) with TNM Staging and
            Grading of Oral Squamous Cell Carcinoma and Its Role in Tumor
            Progression.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 149)
  AUTHORS   Cai Y, Fu Y, Liu C, Wang X, You P, Li X, Song Y, Mu X, Fang T, Yang
            Y, Gu Y, Zhang H and He Z.
  TITLE     Stathmin 1 is a biomarker for diagnosis of microvascular invasion
            to predict prognosis of early hepatocellular carcinoma
  JOURNAL   Cell Death Dis 13 (2), 176 (2022)
   PUBMED   35210426
  REMARK    GeneRIF: Stathmin 1 is a biomarker for diagnosis of microvascular
            invasion to predict prognosis of early hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 149)
  AUTHORS   Nie L, Zhang C, Song H, Zhao Q, Cheng L, Zhang P and Yang X.
  TITLE     Overexpression of Stathmin 1 Predicts Poor Prognosis and Promotes
            Cancer Cell Proliferation and Migration in Ovarian Cancer
  JOURNAL   Dis Markers 2022, 3554100 (2022)
   PUBMED   35186166
  REMARK    GeneRIF: Overexpression of Stathmin 1 Predicts Poor Prognosis and
            Promotes Cancer Cell Proliferation and Migration in Ovarian Cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 149)
  AUTHORS   Doye V, Le Gouvello S, Dobransky T, Chneiweiss H, Beretta L and
            Sobel A.
  TITLE     Expression of transfected stathmin cDNA reveals novel
            phosphorylated forms associated with developmental and functional
            cell regulation
  JOURNAL   Biochem J 287 (Pt 2) (Pt 2), 549-554 (1992)
   PUBMED   1445213
REFERENCE   7  (residues 1 to 149)
  AUTHORS   Labdon JE, Nieves E and Schubart UK.
  TITLE     Analysis of phosphoprotein p19 by liquid chromatography/mass
            spectrometry. Identification of two proline-directed serine
            phosphorylation sites and a blocked amino terminus
  JOURNAL   J Biol Chem 267 (5), 3506-3513 (1992)
   PUBMED   1737801
REFERENCE   8  (residues 1 to 149)
  AUTHORS   Melhem RF, Zhu XX, Hailat N, Strahler JR and Hanash SM.
  TITLE     Characterization of the gene for a proliferation-related
            phosphoprotein (oncoprotein 18) expressed in high amounts in acute
            leukemia
  JOURNAL   J Biol Chem 266 (27), 17747-17753 (1991)
   PUBMED   1917919
REFERENCE   9  (residues 1 to 149)
  AUTHORS   Sobel A.
  TITLE     Stathmin: a relay phosphoprotein for multiple signal transduction?
  JOURNAL   Trends Biochem Sci 16 (8), 301-305 (1991)
   PUBMED   1957351
  REMARK    Review article
REFERENCE   10 (residues 1 to 149)
  AUTHORS   Ferrari AC, Seuanez HN, Hanash SM and Atweh GF.
  TITLE     A gene that encodes for a leukemia-associated phosphoprotein (p18)
            maps to chromosome bands 1p35-36.1
  JOURNAL   Genes Chromosomes Cancer 2 (2), 125-129 (1990)
   PUBMED   2278968
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ428400.1, BG030679.1,
            AK054594.1 and BQ772197.1.
            
            Summary: This gene belongs to the stathmin family of genes. It
            encodes a ubiquitous cytosolic phosphoprotein proposed to function
            as an intracellular relay integrating regulatory signals of the
            cellular environment. The encoded protein is involved in the
            regulation of the microtubule filament system by destabilizing
            microtubules. It prevents assembly and promotes disassembly of
            microtubules. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Feb
            2009].
            
            Transcript Variant: This variant (1) differs in the 5' UTR and uses
            an alternate terminal exon, compared to variant 4. The resulting
            isoform (a) has a shorter and distinct C-terminus, compared to
            isoform b. Variants 1, 2, and 3 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.1392045.1,
                                           SRR14372080.1366280.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2161674
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..149
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     Protein         1..149
                     /product="stathmin isoform a"
                     /note="stathmin 1/oncoprotein 18; metablastin; prosolin;
                     phosphoprotein 19; transmembrane protein C1orf215;
                     leukemia-associated phosphoprotein p18; phosphoprotein
                     p19; testicular tissue protein Li 189"
                     /calculated_mol_wt=17171
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000269|PubMed:1737801,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P16949.3)"
     Site            4
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16949.3)"
     Region          5..140
                     /region_name="Stathmin"
                     /note="Stathmin family; pfam00836"
                     /db_xref="CDD:395674"
     Site            9
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P16949.3)"
     Site            16
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:8125092,
                     ECO:0000269|PubMed:8245003, ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:17924679,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16949.3)"
     Site            25
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CDK1, MAPK1 and MAPK3.
                     /evidence=ECO:0000269|PubMed:1737801,
                     ECO:0000269|PubMed:8125092, ECO:0000269|PubMed:8245003,
                     ECO:0000269|PubMed:8325880, ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:17693683,
                     ECO:0007744|PubMed:17924679, ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P16949.3)"
     Site            29
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P16949.3)"
     Site            31
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16949.3)"
     Site            38
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CDK1, MAPK1 and MAPK3.
                     /evidence=ECO:0000269|PubMed:1737801,
                     ECO:0000269|PubMed:8125092, ECO:0000269|PubMed:8245003,
                     ECO:0000269|PubMed:8325880, ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17693683, ECO:0007744|PubMed:17924679,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P16949.3)"
     Site            63
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:17924679, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P16949.3)"
     Site            100
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P16949.3)"
     Site            119
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P16949.3)"
     Region          121..149
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P16949.3)"
     CDS             1..149
                     /gene="STMN1"
                     /gene_synonym="C1orf215; Lag; LAP18; OP18; PP17; PP19;
                     PR22; SMN"
                     /coded_by="NM_203401.2:257..706"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS269.1"
                     /db_xref="GeneID:3925"
                     /db_xref="HGNC:HGNC:6510"
                     /db_xref="MIM:151442"
ORIGIN      
        1 massdiqvke lekrasgqaf elilsprske svpefplspp kkkdlsleei qkkleaaeer
       61 rksheaevlk qlaekrehek evlqkaieen nnfskmaeek lthkmeanke nreaqmaakl
      121 erlrekdkhi eevrknkesk dpadetead
//
LOCUS       NP_005924               3969 aa            linear   PRI 16-MAR-2023
DEFINITION  histone-lysine N-methyltransferase 2A isoform 2 precursor [Homo
            sapiens].
ACCESSION   NP_005924
VERSION     NP_005924.2
DBSOURCE    REFSEQ: accession NM_005933.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 3969)
  AUTHORS   Casado P, Rio-Machin A, Miettinen JJ, Bewicke-Copley F,
            Rouault-Pierre K, Krizsan S, Parsons A, Rajeeve V, Miraki-Moud F,
            Taussig DC, Bodor C, Gribben J, Heckman C, Fitzgibbon J and
            Cutillas PR.
  TITLE     Integrative phosphoproteomics defines two biologically distinct
            groups of KMT2A rearranged acute myeloid leukaemia with different
            drug response phenotypes
  JOURNAL   Signal Transduct Target Ther 8 (1), 80 (2023)
   PUBMED   36843114
  REMARK    GeneRIF: Integrative phosphoproteomics defines two biologically
            distinct groups of KMT2A rearranged acute myeloid leukaemia with
            different drug response phenotypes.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 3969)
  AUTHORS   Huang J, Zhu Y, Li J, Yang G and Zhang S.
  TITLE     The KMT2A rearrangement is an early event prior to KMT2A-PTD in AML
            patients with both molecular aberrations
  JOURNAL   Ann Hematol 102 (2), 495-497 (2023)
   PUBMED   36525029
  REMARK    GeneRIF: The KMT2A rearrangement is an early event prior to
            KMT2A-PTD in AML patients with both molecular aberrations.
REFERENCE   3  (residues 1 to 3969)
  AUTHORS   Cowell IG and Austin CA.
  TITLE     DNA fragility at the KMT2A/MLL locus: insights from old and new
            technologies
  JOURNAL   Open Biol 13 (1), 220232 (2023)
   PUBMED   36629017
  REMARK    GeneRIF: DNA fragility at the KMT2A/MLL locus: insights from old
            and new technologies.
            Review article
REFERENCE   4  (residues 1 to 3969)
  AUTHORS   Liu H, Cheng EH and Hsieh JJ.
  TITLE     MLL fusions: pathways to leukemia
  JOURNAL   Cancer Biol Ther 8 (13), 1204-1211 (2009)
   PUBMED   19729989
  REMARK    GeneRIF: Stduies indicate that leukemogenic MLL translocations fuse
            the common MLL N-terminus (approximately 1,400 aa) in frame with
            more than 60 translocation partner genes.
            Review article
REFERENCE   5  (residues 1 to 3969)
  AUTHORS   Sheppard,S.E. and Quintero-Rivera,F.
  TITLE     Wiedemann-Steiner Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   35617449
REFERENCE   6  (residues 1 to 3969)
  AUTHORS   Gu Y, Nakamura T, Alder H, Prasad R, Canaani O, Cimino G, Croce CM
            and Canaani E.
  TITLE     The t(4;11) chromosome translocation of human acute leukemias fuses
            the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene
  JOURNAL   Cell 71 (4), 701-708 (1992)
   PUBMED   1423625
REFERENCE   7  (residues 1 to 3969)
  AUTHORS   Tkachuk DC, Kohler S and Cleary ML.
  TITLE     Involvement of a homolog of Drosophila trithorax by 11q23
            chromosomal translocations in acute leukemias
  JOURNAL   Cell 71 (4), 691-700 (1992)
   PUBMED   1423624
REFERENCE   8  (residues 1 to 3969)
  AUTHORS   Djabali M, Selleri L, Parry P, Bower M, Young BD and Evans GA.
  TITLE     A trithorax-like gene is interrupted by chromosome 11q23
            translocations in acute leukaemias
  JOURNAL   Nat Genet 2 (2), 113-118 (1992)
   PUBMED   1303259
  REMARK    Erratum:[Nat Genet. 1993 Aug;4(4):431. PMID: 8401594]
REFERENCE   9  (residues 1 to 3969)
  AUTHORS   Cimino G, Moir DT, Canaani O, Williams K, Crist WM, Katzav S,
            Cannizzaro L, Lange B, Nowell PC, Croce CM et al.
  TITLE     Cloning of ALL-1, the locus involved in leukemias with the
            t(4;11)(q21;q23), t(9;11)(p22;q23), and t(11;19)(q23;p13)
            chromosome translocations
  JOURNAL   Cancer Res 51 (24), 6712-6714 (1991)
   PUBMED   1835902
REFERENCE   10 (residues 1 to 3969)
  AUTHORS   Ziemin-van der Poel S, McCabe NR, Gill HJ, Espinosa R 3rd, Patel Y,
            Harden A, Rubinelli P, Smith SD, LeBeau MM, Rowley JD et al.
  TITLE     Identification of a gene, MLL, that spans the breakpoint in 11q23
            translocations associated with human leukemias
  JOURNAL   Proc Natl Acad Sci U S A 88 (23), 10735-10739 (1991)
   PUBMED   1720549
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1992 May 1;89(9):4220]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D14540.1, AB209508.1,
            AP001267.4, AP000941.6 and BC065385.1.
            On Dec 10, 2004 this sequence version replaced NP_005924.1.
            
            Summary: This gene encodes a transcriptional coactivator that plays
            an essential role in regulating gene expression during early
            development and hematopoiesis. The encoded protein contains
            multiple conserved functional domains. One of these domains, the
            SET domain, is responsible for its histone H3 lysine 4 (H3K4)
            methyltransferase activity which mediates chromatin modifications
            associated with epigenetic transcriptional activation. This protein
            is processed by the enzyme Taspase 1 into two fragments, MLL-C and
            MLL-N. These fragments reassociate and further assemble into
            different multiprotein complexes that regulate the transcription of
            specific target genes, including many of the HOX genes. Multiple
            chromosomal translocations involving this gene are the cause of
            certain acute lymphoid leukemias and acute myeloid leukemias.
            Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, Oct 2010].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon and uses an alternate in-frame splice site in the coding
            region, compared to variant 3. This results in a shorter protein
            (isoform 2), compared to isoform 3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: L04284.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..3969
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     Protein         1..3969
                     /product="histone-lysine N-methyltransferase 2A isoform 2
                     precursor"
                     /EC_number="2.1.1.364"
                     /note="zinc finger protein HRX; trithorax-like protein;
                     lysine (K)-specific methyltransferase 2A; lysine
                     N-methyltransferase 2A; CXXC-type zinc finger protein 7;
                     myeloid/lymphoid or mixed-lineage leukemia (trithorax
                     homolog, Drosophila); mixed lineage leukemia 1;
                     histone-lysine N-methyltransferase 2A; Acute lymphocytic
                     1"
                     /calculated_mol_wt=431635
     mat_peptide     1..2718
                     /product="MLL cleavage product N320 isoform 2"
                     /calculated_mol_wt=297386
     Region          1..108
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Region          6..25
                     /region_name="Menin-binding motif (MBM).
                     /evidence=ECO:0000269|PubMed:22327296"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Region          123..134
                     /region_name="Integrase domain-binding motif 1 (IBM1).
                     /evidence=ECO:0000269|PubMed:25305204"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Region          132..253
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            136
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:29997176; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            142
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:29997176; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          147..152
                     /region_name="Integrase domain-binding motif 2 (IBM2).
                     /evidence=ECO:0000269|PubMed:25305204"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            153
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:29997176,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            197
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            239
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P55200; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          301..352
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            373
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P55200; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          445..585
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            518
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            636
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            680
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          713..780
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Region          798..949
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            840
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            926
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          1038..1066
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            1056
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          1106..1166
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            1130
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          1147..1194
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     Region          1200..1375
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            1235
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            1334..1335
                     /site_type="other"
                     /note="Breakpoint for translocation to form KMT2A-ZFYVE19
                     oncogene; propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            1362..1363
                     /site_type="other"
                     /note="Breakpoint for translocation to form KMT2A-AF3P21
                     and KMT2A-KNL1 oncogenes; Breakpoint for translocation to
                     form KMT2A-CENPK oncogene; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            1362
                     /site_type="other"
                     /note="Breakpoint for translocation to form KMT2A-FRYL
                     fusion protein; propagated from UniProtKB/Swiss-Prot
                     (Q03164.5)"
     Site            1406..1407
                     /site_type="other"
                     /note="Breakpoint for translocation to form KMT2A-AFF4
                     fusion protein; propagated from UniProtKB/Swiss-Prot
                     (Q03164.5)"
     Region          1433..1479
                     /region_name="PHD1_KMT2A"
                     /note="PHD finger 1 found in histone-lysine
                     N-methyltransferase 2A (KMT2A); cd15588"
                     /db_xref="CDD:277063"
     Site            order(1433,1444..1448,1452,1474)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277063"
     Site            1444..1445
                     /site_type="other"
                     /note="Breakpoint for translocation to form KMT2A-GAS7
                     oncogene; Breakpoint for translocation to form KMT2A-LPP;
                     propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Region          1481..1530
                     /region_name="PHD2_KMT2A"
                     /note="PHD finger 2 found in histone-lysine
                     N-methyltransferase 2A (KMT2A); cd15590"
                     /db_xref="CDD:277065"
     Site            order(1481,1494..1498,1502,1525)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277065"
     Region          1568..1624
                     /region_name="PHD3_KMT2A"
                     /note="PHD finger 3 found in histone-lysine
                     N-methyltransferase 2A (KMT2A); cd15592"
                     /db_xref="CDD:277067"
     Site            order(1568,1584..1588,1592,1619)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277067"
     Region          1584..1600
                     /region_name="Interaction with histone H3K4me3.
                     /evidence=ECO:0000269|PubMed:20677832"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Region          1647..1777
                     /region_name="Bromo_ALL-1"
                     /note="Bromodomain, ALL-1 like proteins. ALL-1 is a
                     vertebrate homologue of Drosophila trithorax and is often
                     affected in chromosomal rearrangements that are linked to
                     acute leukemias, such as acute lymphocytic leukemia (ALL).
                     Bromodomains are found in many...; cd05493"
                     /db_xref="CDD:99925"
     Region          1663..1713
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            order(1690,1695,1698,1737,1741,1759)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99925"
     Region          1806..1869
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            1837
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            1845
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            1858
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          1871..1983
                     /region_name="ePHD_KMT2A"
                     /note="Extended PHD finger found in histone-lysine
                     N-methyltransferase 2A (KMT2A); cd15693"
                     /db_xref="CDD:277163"
     Site            order(1932,1941..1945,1951,1972)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277163"
     Region          2024..2071
                     /region_name="FYRN"
                     /note="F/Y-rich N-terminus; pfam05964"
                     /db_xref="CDD:428695"
     Region          2081..2133
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            2098
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Region          2145..2232
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            2147
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            2151
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            2201
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          2275..2333
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Region          2373..2460
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Region          2475..2618
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            2525
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            2611
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          2647..2675
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            2666..2667
                     /site_type="cleavage"
                     /note="Cleavage, by TASP1, site 1.
                     /evidence=ECO:0000269|PubMed:14636557; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          2713..2821
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            2718..2719
                     /site_type="cleavage"
                     /note="Cleavage, by TASP1, site 2.
                     /evidence=ECO:0000269|PubMed:14636557; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     mat_peptide     2719..3969
                     /product="MLL cleavage product C180 isoform 2"
                     /calculated_mol_wt=134399
     Site            2796
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          2847..2855
                     /region_name="9aaTAD.
                     /evidence=ECO:0000269|PubMed:17467953"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            2955
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            2958
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P55200; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          2961..3064
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            3036
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          3166..3244
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            3372
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            3462
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P55200; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          3464..3608
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            3511
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            3515
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            3527
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          3620..3643
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Region          3669..3752
                     /region_name="FYRC"
                     /note="FY-rich domain, C-terminal region; smart00542"
                     /db_xref="CDD:197781"
     Region          3762..3767
                     /region_name="WDR5 interaction motif (WIN).
                     /evidence=ECO:0000269|PubMed:18829459,
                     ECO:0000269|PubMed:22665483"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Site            3765
                     /site_type="other"
                     /note="Important for WDR5-recognition and binding.
                     /evidence=ECO:0000269|PubMed:19556245; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Region          3785..3808
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03164.5)"
     Region          3816..3969
                     /region_name="SET_KMT2A_2B"
                     /note="SET domain (including post-SET domain) found in
                     histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B)
                     and similar proteins; cd19170"
                     /db_xref="CDD:380947"
     Site            order(3838..3841,3858,3883..3888,3902..3907,3915..3917,
                     3926,3942..3947,3956..3959,3968)
                     /site_type="active"
                     /db_xref="CDD:380947"
     Site            order(3838..3841,3883,3903..3907,3944,3956..3959)
                     /site_type="other"
                     /note="SAM binding site"
                     /db_xref="CDD:380947"
     Site            order(3858,3883..3888,3902..3903,3905,3915..3917,3926,
                     3942..3947)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:380947"
     Site            3882
                     /site_type="methylation"
                     /note="S-methylcysteine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:24235145; propagated from
                     UniProtKB/Swiss-Prot (Q03164.5)"
     Site            order(3909,3957,3959,3964)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:380947"
     CDS             1..3969
                     /gene="KMT2A"
                     /gene_synonym="ALL-1; ALL1; CXXC7; GAS7; HRX; HTRX; HTRX1;
                     MLL; MLL1; MLL1A; TRX1; WDSTS"
                     /coded_by="NM_005933.4:22..11931"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS31686.1"
                     /db_xref="GeneID:4297"
                     /db_xref="HGNC:HGNC:7132"
                     /db_xref="MIM:159555"
ORIGIN      
        1 mahscrwrfp arpgttgggg gggrrglgga prqrvpalll ppgppvgggg pgappsppav
       61 aaaaaaagss gagvpggaaa asaassssas ssssssssas sgpallrvgp gfdaalqvsa
      121 aigtnlrrfr avfgesgggg gsgedeqflg fgsdeevrvr sptrspsvkt sprkprgrpr
      181 sgsdrnsail sdpsvfspln ksetksgdki kkkdsksiek krgrpptfpg vkikithgkd
      241 iselpkgnke dslkkikrtp satfqqatki kklragklsp lkskfktgkl qigrkgvqiv
      301 rrrgrppste riktpsglli nselekpqkv rkdkegtppl tkedktvvrq sprrikpvri
      361 ipsskrtdat iakqllqrak kgaqkkieke aaqlqgrkvk tqvknirqfi mpvvsaissr
      421 iiktprrfie dedydppiki arlestpnsr fsapscgsse kssaasqhss qmssdssrss
      481 spsvdtstds qaseeiqvlp eersdtpevh pplpisqspe nesndrrsrr ysvsersfgs
      541 rttkklstlq sapqqqtsss pppplltppp plqpassisd htpwlmppti plaspflpas
      601 tapmqgkrks ilreptfrwt slkhsrsepq yfssakyake glirkpifdn frpppltped
      661 vgfasgfsas gtaasarlfs plhsgtrfdm hkrspllrap rftpseahsr ifesvtlpsn
      721 rtsagtsssg vsnrkrkrkv fspirseprs pshsmrtrsg rlssselspl tppssvsssl
      781 sisvsplats alnptftfps hsltqsgesa eknqrprkqt sapaepfsss sptplfpwft
      841 pgsqtergrn kdkapeelsk drdadksvek dksrerdrer ekenkresrk ekrkkgseiq
      901 sssalypvgr vskekvvged vatsssakka tgrkkssshd sgtditsvtl gdttavktki
      961 likkgrgnle ktnldlgpta pslekektlc lstpssstvk hstssigsml aqadklpmtd
     1021 krvasllkka kaqlckieks kslkqtdqpk aqgqesdsse tsvrgprikh vcrraavalg
     1081 rkravfpddm ptlsalpwee rekilssmgn ddkssiagse daeplappik pikpvtrnka
     1141 pqeppvkkgr rsrrcgqcpg cqvpedcgvc tncldkpkfg grnikkqcck mrkcqnlqwm
     1201 pskaylqkqa kavkkkekks ktsekkdske ssvvknvvds sqkptpsare dpapkkssse
     1261 ppprkpveek seegnvsapg peskqattpa srksskqvsq palvippqpp ttgpprkevp
     1321 kttpsepkkk qppppesgpe qskqkkvapr psipvkqkpk ekekpppvnk qenagtlnil
     1381 stlsngnssk qkipadgvhr irvdfkedce aenvwemggl giltsvpitp rvvcflcass
     1441 ghvefvycqv ccepfhkfcl eenerpledq lenwccrrck fchvcgrqhq atkqllecnk
     1501 crnsyhpecl gpnyptkptk kkkvwictkc vrckscgstt pgkgwdaqws hdfslchdca
     1561 klfakgnfcp lcdkcydddd yeskmmqcgk cdrwvhskce nlsdemyeil snlpesvayt
     1621 cvncterhpa ewrlalekel qislkqvlta llnsrttshl lryrqaakpp dlnpeteesi
     1681 psrsspegpd ppvltevskq ddqqpldleg vkrkmdqgny tsvlefsddi vkiiqaains
     1741 dggqpeikka nsmvksffir qmervfpwfs vkksrfwepn kvssnsgmlp navlppsldh
     1801 nyaqwqeree nshteqpplm kkiipapkpk gpgepdsptp lhpptppils tdrsredspe
     1861 lnpppgiedn rqcalcltyg ddsandagrl lyigqnewth vncalwsaev fedddgslkn
     1921 vhmavirgkq lrcefcqkpg atvgccltsc tsnyhfmcsr akncvflddk kvycqrhrdl
     1981 ikgevvpeng fevfrrvfvd fegislrrkf lnglepenih mmigsmtidc lgilndlsdc
     2041 edklfpigyq csrvywsttd arkrcvytck ivecrppvve pdinstvehd enrtiahspt
     2101 sftessskes qntaeiispp spdrpphsqt sgscyyhvis kvprirtpsy sptqrspgcr
     2161 plpsagsptp ttheivtvgd pllssglrsi gsrrhstssl spqrsklrim spmrtgntys
     2221 rnnvssvstt gtatdlessa kvvdhvlgpl nsstslgqnt stssnlqrtv vtvgnknshl
     2281 dgssssemkq ssasdlvsks sslkgektkv lsskssegsa hnvaypgipk lapqvhntts
     2341 relnvskigs faepssvsfs skealsfphl hlrgqrndrd qhtdstqsan sspdedtevk
     2401 tlklsgmsnr ssiinehmgs ssrdrrqkgk kscketfkek hssksflepg qvttgeegnl
     2461 kpefmdevlt peymgqrpcn nvssdkigdk glsmpgvpka ppmqvegsak elqaprkrtv
     2521 kvtltplkme nesqsknalk esspasplqi estsptepis asenpgdgpv aqpspnntsc
     2581 qdsqsnnyqn lpvqdrnlml pdgpkpqedg sfkrryprrs ararsnmffg ltplygvrsy
     2641 geedipfyss stgkkrgkrs aegqvdgadd lstsdeddly yynftrtvis sggeerlash
     2701 nlfreeeqcd lpkisqldgv ddgtesdtsv tattrkssqi pkrngkengt enlkidrped
     2761 agekehvtks svghknepkm dnchsvsrvk tqgqdsleaq lsslessrrv htstpsdknl
     2821 ldtyntellk sdsdnnnsdd cgnilpsdim dfvlkntpsm qalgespess ssellnlgeg
     2881 lgldsnrekd mglfevfsqq lpttepvdss vsssisaeeq felplelpsd lsvlttrspt
     2941 vpsqnpsrla visdsgekrv titeksvass esdpallspg vdptpeghmt pdhfiqghmd
     3001 adhissppcg sveqghgnnq dltrnsstpg lqvpvsptvp iqnqkyvpns tdspgpsqis
     3061 naavqttpph lkpatekliv vnqnmqplyv lqtlpngvtq kiqltssvss tpsvmetnts
     3121 vlgpmggglt lttglnpslp tsqslfpsas kgllpmshhq hlhsfpaatq ssfppnisnp
     3181 psglligvqp ppdpqllvse ssqrtdlstt vatpssglkk rpisrlqtrk nkklapsstp
     3241 sniapsdvvs nmtlinftps qlpnhpslld lgslntsshr tvpniikrsk ssimyfepap
     3301 llpqsvggta ataagtstis qdtshltsgs vsglassssv lnvvsmqttt tptssasvpg
     3361 hvtltnprll gtpdigsisn llikasqqsl giqdqpvalp pssgmfpqlg tsqtpstaai
     3421 taassicvlp stqttgitaa spsgeadehy qlqhvnqlla sktgihssqr dldsasgpqv
     3481 snftqtvdap nsmgleqnka lssavqaspt spggspssps sgqrsaspsv pgptkpkpkt
     3541 krfqlpldkg ngkkhkvshl rtssseahip dqettsltsg tgtpgaeaeq qdtasveqss
     3601 qkecgqpagq vavlpevqvt qnpaneqesa epktveeees nfssplmlwl qqeqkrkesi
     3661 tekkpkkglv feissddgfq icaesiedaw ksltdkvqea rsnarlkqls fagvnglrml
     3721 gilhdavvfl ieqlsgakhc rnykfrfhkp eeanepplnp hgsaraevhl rksafdmfnf
     3781 laskhrqppe ynpndeeeee vqlksarrat smdlpmpmrf rhlkktskea vgvyrspihg
     3841 rglfckrnid agemvieyag nvirsiqtdk rekyydskgi gcymfridds evvdatmhgn
     3901 aarfinhsce pncysrvini dgqkhivifa mrkiyrgeel tydykfpied asnklpcncg
     3961 akkcrkfln
//
LOCUS       NP_001265611             275 aa            linear   PRI 16-MAR-2023
DEFINITION  homeobox protein TGIF1 isoform e [Homo sapiens].
ACCESSION   NP_001265611
VERSION     NP_001265611.1
DBSOURCE    REFSEQ: accession NM_001278682.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 275)
  AUTHORS   Wang B, Ma Q, Wang X, Guo K, Liu Z and Li G.
  TITLE     TGIF1 overexpression promotes glioma progression and worsens
            patient prognosis
  JOURNAL   Cancer Med 11 (24), 5113-5128 (2022)
   PUBMED   35569122
  REMARK    GeneRIF: TGIF1 overexpression promotes glioma progression and
            worsens patient prognosis.
REFERENCE   2  (residues 1 to 275)
  AUTHORS   He X, Nie Y, Zhou H, Hu R, Li Y, He T, Zhu J, Yang Y and Liu M.
  TITLE     Structural Insight into the Binding of TGIF1 to SIN3A PAH2 Domain
            through a C-Terminal Amphipathic Helix
  JOURNAL   Int J Mol Sci 22 (23), 12631 (2021)
   PUBMED   34884456
  REMARK    GeneRIF: Structural Insight into the Binding of TGIF1 to SIN3A PAH2
            Domain through a C-Terminal Amphipathic Helix.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 275)
  AUTHORS   Sturken C, Mobus V, Milde-Langosch K, Schmatloch S, Fasching PA,
            Ruschoff J, Stickeler E, Henke RP, Denkert C, Hanker L, Schem C,
            Vladimirova V, Karn T, Nekljudova V, Kohne CH, Marme F, Schumacher
            U, Loibl S and Muller V.
  TITLE     TGFB-induced factor homeobox 1 (TGIF) expression in breast cancer
  JOURNAL   BMC Cancer 21 (1), 920 (2021)
   PUBMED   34391399
  REMARK    GeneRIF: TGFB-induced factor homeobox 1 (TGIF) expression in breast
            cancer.
            Erratum:[BMC Cancer. 2021 Sep 15;21(1):1024. PMID: 34526003]
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 275)
  AUTHORS   Nakaguma M, Ferreira NGBP, Benedetti AFF, Madi MC, Silva JM, Li JZ,
            Ma Q, Bilge Ozel A, Fang Q, Narcizo AM, Cardoso LC, Montenegro LR,
            Funari MFA, Nishi MY, Arnhold IJP, Jorge AAL, Mendonca BB, Camper
            SA and Carvalho LR.
  TITLE     Allelic Variants in Established Hypopituitarism Genes Expand Our
            Knowledge of the Phenotypic Spectrum
  JOURNAL   Genes (Basel) 12 (8), 1128 (2021)
   PUBMED   34440302
  REMARK    GeneRIF: Allelic Variants in Established Hypopituitarism Genes
            Expand Our Knowledge of the Phenotypic Spectrum.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 275)
  AUTHORS   Hamid R, Patterson J and Brandt SJ.
  TITLE     Genomic structure, alternative splicing and expression of
            TG-interacting factor, in human myeloid leukemia blasts and cell
            lines
  JOURNAL   Biochim Biophys Acta 1779 (5), 347-355 (2008)
   PUBMED   18455519
  REMARK    GeneRIF: A detailed description of the TGIF locus characterizing 12
            TGIF splice isoforms.
REFERENCE   6  (residues 1 to 275)
  AUTHORS   Yang Y, Hwang CK, D'Souza UM, Lee SH, Junn E and Mouradian MM.
  TITLE     Three-amino acid extension loop homeodomain proteins Meis2 and TGIF
            differentially regulate transcription
  JOURNAL   J Biol Chem 275 (27), 20734-20741 (2000)
   PUBMED   10764806
REFERENCE   7  (residues 1 to 275)
  AUTHORS   Wotton D, Lo RS, Lee S and Massague J.
  TITLE     A Smad transcriptional corepressor
  JOURNAL   Cell 97 (1), 29-39 (1999)
   PUBMED   10199400
REFERENCE   8  (residues 1 to 275)
  AUTHORS   Bertolino E, Reimund B, Wildt-Perinic D and Clerc RG.
  TITLE     A novel homeobox protein which recognizes a TGT core and
            functionally interferes with a retinoid-responsive motif
  JOURNAL   J Biol Chem 270 (52), 31178-31188 (1995)
   PUBMED   8537382
REFERENCE   9  (residues 1 to 275)
  AUTHORS   Overhauser J, Mitchell HF, Zackai EH, Tick DB, Rojas K and Muenke
            M.
  TITLE     Physical mapping of the holoprosencephaly critical region in
            18p11.3
  JOURNAL   Am J Hum Genet 57 (5), 1080-1085 (1995)
   PUBMED   7485158
REFERENCE   10 (residues 1 to 275)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301702
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001025.6.
            
            Summary: The protein encoded by this gene is a member of the
            three-amino acid loop extension (TALE) superclass of atypical
            homeodomains. TALE homeobox proteins are highly conserved
            transcription regulators. This particular homeodomain binds to a
            previously characterized retinoid X receptor responsive element
            from the cellular retinol-binding protein II promoter. In addition
            to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha
            transcription activation of the retinoic acid responsive element,
            the protein is an active transcriptional co-repressor of SMAD2 and
            may participate in the transmission of nuclear signals during
            development and in the adult. Mutations in this gene are associated
            with holoprosencephaly type 4, which is a structural anomaly of the
            brain. Alternative splicing has been observed at this locus and
            multiple splice variants encoding distinct isoforms are described.
            [provided by RefSeq, Jul 2013].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.1516311.1,
                                           SRR14372079.1529661.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..275
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.31"
     Protein         1..275
                     /product="homeobox protein TGIF1 isoform e"
                     /note="homeobox protein TGIF1; TALE homeobox
                     TG-interacting factor; transforming growth
                     factor-beta-induced factor; 5'-TG-3'-interacting factor 1"
                     /calculated_mol_wt=29845
     Site            order(39..43,45,65,71,84,86..87,90..91,93..95)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Site            order(41,44,87,90..91,94)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          57..95
                     /region_name="Homeobox_KN"
                     /note="Homeobox KN domain; pfam05920"
                     /db_xref="CDD:428673"
     CDS             1..275
                     /gene="TGIF1"
                     /gene_synonym="HPE4; TGIF"
                     /coded_by="NM_001278682.2:65..892"
                     /note="isoform e is encoded by transcript variant 9"
                     /db_xref="GeneID:7050"
                     /db_xref="HGNC:HGNC:11776"
                     /db_xref="MIM:602630"
ORIGIN      
        1 maaahsgrsi vaasgseted edsmdipldl sssagsgkrr rrgnlpkesv qilrdwlyeh
       61 rynaypseqe kallsqqthl stlqvcnwfi narrrllpdm lrkdgkdpnq ftisrrgaki
      121 setssvesvm giknfmpale etpfhsctag pnptlgrpls pkpsspgsvl arpsvichtt
      181 vtalkdvpfs lcqsvgvgqn tdiqqiaakn ftdtslmype dtcksgpstn tqsglfntpp
      241 ptppdlnqdf sgfqllvdva lkraaemelq aklta
//
LOCUS       NP_659483                384 aa            linear   PRI 17-MAR-2023
DEFINITION  calreticulin-3 precursor [Homo sapiens].
ACCESSION   NP_659483
VERSION     NP_659483.2
DBSOURCE    REFSEQ: accession NM_145046.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 384)
  AUTHORS   Verhagen JMA, Veldman JH, van der Zwaag PA, von der Thusen JH,
            Brosens E, Christiaans I, Dooijes D, Helderman-van den Enden ATJM,
            Lekanne Deprez RH, Michels M, van Mil AM, Oldenburg RA, van der
            Smagt JJ, van den Wijngaard A, Wessels MW, Hofstra RMW, van
            Slegtenhorst MA, Jongbloed JDH and van de Laar IMBH.
  TITLE     Lack of evidence for a causal role of CALR3 in monogenic
            cardiomyopathy
  JOURNAL   Eur J Hum Genet 26 (11), 1603-1610 (2018)
   PUBMED   29988065
  REMARK    GeneRIF: CALR3 variant is not associated with cardiomyopathy in
            Dutch cohort.  In three families, CALR3 mutation did not segregate
            with cardiomyopathy.
REFERENCE   2  (residues 1 to 384)
  AUTHORS   Maheswaran E, Pedersen CB, Ditzel HJ and Gjerstorff MF.
  TITLE     Lack of ADAM2, CALR3 and SAGE1 Cancer/Testis Antigen Expression in
            Lung and Breast Cancer
  JOURNAL   PLoS One 10 (8), e0134967 (2015)
   PUBMED   26252478
  REMARK    GeneRIF: ADAM2, CALR3 and SAGE1 cancer/testis antigens are not
            promising targets for immunotherapy of breast and lung cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 384)
  AUTHORS   Nalls MA, Couper DJ, Tanaka T, van Rooij FJ, Chen MH, Smith AV,
            Toniolo D, Zakai NA, Yang Q, Greinacher A, Wood AR, Garcia M,
            Gasparini P, Liu Y, Lumley T, Folsom AR, Reiner AP, Gieger C, Lagou
            V, Felix JF, Volzke H, Gouskova NA, Biffi A, Doring A, Volker U,
            Chong S, Wiggins KL, Rendon A, Dehghan A, Moore M, Taylor K, Wilson
            JG, Lettre G, Hofman A, Bis JC, Pirastu N, Fox CS, Meisinger C,
            Sambrook J, Arepalli S, Nauck M, Prokisch H, Stephens J, Glazer NL,
            Cupples LA, Okada Y, Takahashi A, Kamatani Y, Matsuda K, Tsunoda T,
            Tanaka T, Kubo M, Nakamura Y, Yamamoto K, Kamatani N, Stumvoll M,
            Tonjes A, Prokopenko I, Illig T, Patel KV, Garner SF, Kuhnel B,
            Mangino M, Oostra BA, Thein SL, Coresh J, Wichmann HE, Menzel S,
            Lin J, Pistis G, Uitterlinden AG, Spector TD, Teumer A,
            Eiriksdottir G, Gudnason V, Bandinelli S, Frayling TM, Chakravarti
            A, van Duijn CM, Melzer D, Ouwehand WH, Levy D, Boerwinkle E,
            Singleton AB, Hernandez DG, Longo DL, Soranzo N, Witteman JC, Psaty
            BM, Ferrucci L, Harris TB, O'Donnell CJ and Ganesh SK.
  TITLE     Multiple loci are associated with white blood cell phenotypes
  JOURNAL   PLoS Genet 7 (6), e1002113 (2011)
   PUBMED   21738480
REFERENCE   4  (residues 1 to 384)
  AUTHORS   Nomura R, Orii M and Senda T.
  TITLE     Calreticulin-2 is localized in the lumen of the endoplasmic
            reticulum but is not a Ca2+ -binding protein
  JOURNAL   Histochem Cell Biol 135 (6), 531-538 (2011)
   PUBMED   21590275
  REMARK    GeneRIF: Calreticulin-2 is localized in the lumen of the
            endoplasmic reticulum but is not a Ca2+ -binding protein.
REFERENCE   5  (residues 1 to 384)
  AUTHORS   Hayashi E, Matsuzaki Y, Hasegawa G, Yaguchi T, Kurihara S, Fujita
            T, Kageshita T, Sano M and Kawakami Y.
  TITLE     Identification of a novel cancer-testis antigen CRT2 frequently
            expressed in various cancers using representational differential
            analysis
  JOURNAL   Clin Cancer Res 13 (21), 6267-6274 (2007)
   PUBMED   17975137
  REMARK    GeneRIF: CRT2 is a novel cancer-testis antigen frequently expressed
            in various cancers
REFERENCE   6  (residues 1 to 384)
  AUTHORS   Persson S, Rosenquist M and Sommarin M.
  TITLE     Identification of a novel calreticulin isoform (Crt2) in human and
            mouse
  JOURNAL   Gene 297 (1-2), 151-158 (2002)
   PUBMED   12384296
REFERENCE   7  (residues 1 to 384)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301725
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB459545.1, AB576176.1,
            BP370084.1, AA910019.1 and AA724299.1.
            On May 7, 2008 this sequence version replaced NP_659483.1.
            
            Summary: The protein encoded by this gene belongs to the
            calreticulin family, members of which are calcium-binding
            chaperones localized mainly in the endoplasmic reticulum. This
            protein is also localized to the endoplasmic reticulum lumen,
            however, its capacity for calcium-binding may be absent or much
            lower than other family members. This gene is specifically
            expressed in the testis, and may be required for sperm fertility.
            Mutation in this gene has been associated with familial
            hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011].
            
            ##Evidence-Data-START##
            Transcript exon combination :: HM005344.1, BC014595.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000269881.8/ ENSP00000269881.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     Protein         1..384
                     /product="calreticulin-3 precursor"
                     /note="cancer/testis antigen 93; calreticulin-2;
                     calsperin; testis secretory sperm-binding protein Li 226n"
                     /calculated_mol_wt=42884
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2130
     mat_peptide     20..384
                     /product="Calreticulin-3. /id=PRO_0000004178"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96L12.2)"
                     /calculated_mol_wt=42884
     Region          20..197
                     /region_name="N-domain"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96L12.2)"
     Region          23..318
                     /region_name="Calreticulin"
                     /note="Calreticulin family; pfam00262"
                     /db_xref="CDD:425564"
     Site            42
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96L12.2)"
     Region          191..245
                     /region_name="4 X approximate repeats"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96L12.2)"
     Region          198..294
                     /region_name="P-domain"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96L12.2)"
     Site            201
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96L12.2)"
     Region          249..283
                     /region_name="3 X approximate repeats"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96L12.2)"
     Region          295..384
                     /region_name="C-domain"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96L12.2)"
     Region          381..384
                     /region_name="Prevents secretion from ER.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU10138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96L12.2)"
     CDS             1..384
                     /gene="CALR3"
                     /gene_synonym="CMH19; CRT2; CT93"
                     /coded_by="NM_145046.5:39..1193"
                     /db_xref="CCDS:CCDS12344.1"
                     /db_xref="GeneID:125972"
                     /db_xref="HGNC:HGNC:20407"
                     /db_xref="MIM:611414"
ORIGIN      
        1 maralvqlwa icmlrvalat vyfqeefldg ehwrnrwlqs tndsrfghfr lssgkfyghk
       61 ekdkglqttq ngrfyaisar fkpfsnkgkt lviqytvkhe qkmdcgggyi kvfpadidqk
      121 nlngksqyyi mfgpdicgfd ikkvhvilhf knkyhenkkl irckvdgfth lytlilrpdl
      181 sydvkidgqs iesgsieydw nltslkkets paeskdweqt kdnkaqdwek hfldastskq
      241 sdwngdldgd wpapmlqkpp yqdglkpegi hkdvwlhrkm kntdyltqyd lsefenigai
      301 glelwqvrsg tifdnflitd deeyadnfgk atwgetkgpe remdaiqake emkkareeee
      361 eellsgkinr hehyfnqfhr rnel
//
LOCUS       NP_001332979             277 aa            linear   PRI 17-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM52 isoform 4 [Homo sapiens].
ACCESSION   NP_001332979 XP_016865482
VERSION     NP_001332979.1
DBSOURCE    REFSEQ: accession NM_001346050.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 277)
  AUTHORS   Zhao F, Li S, Liu J, Wang J and Yang B.
  TITLE     Long non-coding RNA TRIM52-AS1 sponges microRNA-577 to facilitate
            diffuse large B cell lymphoma progression via increasing TRIM52
            expression
  JOURNAL   Hum Cell 35 (4), 1234-1247 (2022)
   PUBMED   35676608
  REMARK    GeneRIF: Long non-coding RNA TRIM52-AS1 sponges microRNA-577 to
            facilitate diffuse large B cell lymphoma progression via increasing
            TRIM52 expression.
REFERENCE   2  (residues 1 to 277)
  AUTHORS   Sun J, Liu P, Mao J, Han W, Jiang X and Gu Y.
  TITLE     TRIM52 positively mediates NF-kappaB to promote the growth of human
            benign prostatic hyperplasia cells through affecting TRAF2
            ubiquitination
  JOURNAL   Life Sci 259, 118380 (2020)
   PUBMED   32898524
  REMARK    GeneRIF: TRIM52 positively mediates NF-kappaB to promote the growth
            of human benign prostatic hyperplasia cells through affecting TRAF2
            ubiquitination.
REFERENCE   3  (residues 1 to 277)
  AUTHORS   Mu X, Li H, Zhou L and Xu W.
  TITLE     TRIM52 regulates the proliferation and invasiveness of lung cancer
            cells via the Wnt/beta-catenin pathway
  JOURNAL   Oncol Rep 41 (6), 3325-3334 (2019)
   PUBMED   31002351
  REMARK    GeneRIF: Based on these data, it was speculated that TRIM52 is
            critical for lung cancer progression and that downregulation of
            TRIM52 could inhibit cell proliferation by blocking cell cycle
            progression.
REFERENCE   4  (residues 1 to 277)
  AUTHORS   Hacker K, Benke S, Agerer B, Scinicariello S, Budroni V and
            Versteeg GA.
  TITLE     A repetitive acidic region contributes to the extremely rapid
            degradation of the cell-context essential protein TRIM52
  JOURNAL   Sci Rep 9 (1), 7901 (2019)
   PUBMED   31133683
  REMARK    GeneRIF: A repetitive acidic region contributes to the extremely
            rapid degradation of the cell-context essential protein TRIM52.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 277)
  AUTHORS   Yang W, Liu L, Li C, Luo N, Chen R, Li L, Yu F and Cheng Z.
  TITLE     TRIM52 plays an oncogenic role in ovarian cancer associated with
            NF-kB pathway
  JOURNAL   Cell Death Dis 9 (9), 908 (2018)
   PUBMED   30185771
  REMARK    GeneRIF: TRIM52 plays an oncogenic role in ovarian cancer
            development.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 277)
  AUTHORS   Zhang Y, Wu SS, Chen XH, Tang ZH, Yu YS and Zang GQ.
  TITLE     Tripartite Motif Containing 52 (TRIM52) Promotes Cell Proliferation
            in Hepatitis B Virus-Associated Hepatocellular Carcinoma
  JOURNAL   Med Sci Monit 23, 5202-5210 (2017)
   PUBMED   29089476
  REMARK    GeneRIF: TRIM52 can promote cell proliferation and HBx may regulate
            TRIM52 expression via the NF-kappaB signaling pathway in Hepatitis
            B Virus-Associated Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 277)
  AUTHORS   Fan W, Liu T, Li X, Zhou Y, Wu M, Cui X, Chen H and Qian P.
  TITLE     TRIM52: A nuclear TRIM protein that positively regulates the
            nuclear factor-kappa B signaling pathway
  JOURNAL   Mol Immunol 82, 114-122 (2017)
   PUBMED   28073078
  REMARK    GeneRIF: these data suggested that TRIM52 was a positive regulator
            of the NF-kappaB pathway.
REFERENCE   8  (residues 1 to 277)
  AUTHORS   Fan W, Wu M, Qian S, Zhou Y, Chen H, Li X and Qian P.
  TITLE     TRIM52 inhibits Japanese Encephalitis Virus replication by
            degrading the viral NS2A
  JOURNAL   Sci Rep 6, 33698 (2016)
   PUBMED   27667714
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 277)
  AUTHORS   Uchil PD, Hinz A, Siegel S, Coenen-Stass A, Pertel T, Luban J and
            Mothes W.
  TITLE     TRIM protein-mediated regulation of inflammatory and innate immune
            signaling and its association with antiretroviral activity
  JOURNAL   J Virol 87 (1), 257-272 (2013)
   PUBMED   23077300
REFERENCE   10 (residues 1 to 277)
  AUTHORS   Malfavon-Borja R, Sawyer SL, Wu LI, Emerman M and Malik HS.
  TITLE     An evolutionary screen highlights canonical and noncanonical
            candidate antiviral genes within the primate TRIM gene family
  JOURNAL   Genome Biol Evol 5 (11), 2141-2154 (2013)
   PUBMED   24158625
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008443.10 and KF510262.1.
            On Sep 21, 2016 this sequence version replaced XP_016865482.1.
            
            Transcript Variant: This variant (4) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (4)
            has a shorter and distinct C-terminus compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.79272.1,
                                           SRR1660809.194612.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162328 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..277
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     Protein         1..277
                     /product="E3 ubiquitin-protein ligase TRIM52 isoform 4"
                     /EC_number="2.3.2.27"
                     /note="tripartite motif-containing protein 52; RING finger
                     protein 102; E3 ubiquitin-protein ligase TRIM52"
                     /calculated_mol_wt=32253
     Region          15..>49
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Region          72..167
                     /region_name="Important for rapid proteolytic degradation
                     by the proteasome. /evidence=ECO:0000269|PubMed:31133683"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A61.1)"
     Region          <179..211
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Region          225..268
                     /region_name="Bbox2_TRIM7-like"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing proteins TRIM7, TRIM27 and similar
                     proteins; cd19762"
                     /db_xref="CDD:380820"
     CDS             1..277
                     /gene="TRIM52"
                     /gene_synonym="RNF102"
                     /coded_by="NM_001346050.2:331..1164"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS93846.1"
                     /db_xref="GeneID:84851"
                     /db_xref="HGNC:HGNC:19024"
                     /db_xref="MIM:619265"
ORIGIN      
        1 magyattpsp mqtlqeeavc aicldyfkdp vsiscghnfc rgcvtqlwsk edeedqneee
       61 deweeeedee avgamdgwdg sirevlyrgn adeelfqdqd ddelwlgdsg itnwdnvdym
      121 wdeeeeeeee dqdyylgglr pdlridvyre eeileayded edeelypdih pppslplpgq
      181 ftcpqcrksf trrsfrpnlq lanmvqiirq mcptpyrgnr sndqgmcfkh qealklfcev
      241 dkeaicvvcr esrshkqhsv lpleevvqey qfvhpms
//
LOCUS       NP_001358165             192 aa            linear   PRI 17-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF183 [Homo sapiens].
ACCESSION   NP_001358165 XP_006717015
VERSION     NP_001358165.1
DBSOURCE    REFSEQ: accession NM_001371236.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 192)
  AUTHORS   Ye G, Luo H, Zhang T, Lan T, Ling B and Qi Z.
  TITLE     Knockdown of RNF183 suppressed proliferation of lung adenocarcinoma
            cells via inactivating the STAT3 signaling pathway
  JOURNAL   Cell Cycle 21 (9), 948-960 (2022)
   PUBMED   35104174
  REMARK    GeneRIF: Knockdown of RNF183 suppressed proliferation of lung
            adenocarcinoma cells via inactivating the STAT3 signaling pathway.
REFERENCE   2  (residues 1 to 192)
  AUTHORS   Seo SU, Woo SM, Im SS, Jang Y, Han E, Kim SH, Lee H, Lee HS, Nam
            JO, Gabrielson E, Min KJ and Kwon TK.
  TITLE     Cathepsin D as a potential therapeutic target to enhance anticancer
            drug-induced apoptosis via RNF183-mediated destabilization of
            Bcl-xL in cancer cells
  JOURNAL   Cell Death Dis 13 (2), 115 (2022)
   PUBMED   35121737
  REMARK    GeneRIF: Cathepsin D as a potential therapeutic target to enhance
            anticancer drug-induced apoptosis via RNF183-mediated
            destabilization of Bcl-xL in cancer cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 192)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 192)
  AUTHORS   Okamoto T, Imaizumi K and Kaneko M.
  TITLE     The Role of Tissue-Specific Ubiquitin Ligases, RNF183, RNF186,
            RNF182 and RNF152, in Disease and Biological Function
  JOURNAL   Int J Mol Sci 21 (11), 3921 (2020)
   PUBMED   32486221
  REMARK    GeneRIF: The Role of Tissue-Specific Ubiquitin Ligases, RNF183,
            RNF186, RNF182 and RNF152, in Disease and Biological Function.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 192)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 192)
  AUTHORS   Wu Y, Guo XP, Kanemoto S, Maeoka Y, Saito A, Asada R, Matsuhisa K,
            Ohtake Y, Imaizumi K and Kaneko M.
  TITLE     Sec16A, a key protein in COPII vesicle formation, regulates the
            stability and localization of the novel ubiquitin ligase RNF183
  JOURNAL   PLoS One 13 (1), e0190407 (2018)
   PUBMED   29300766
  REMARK    GeneRIF: Sec16A also stabilized the interacting ubiquitin ligase
            RNF152, which localizes to the lysosome and has structural
            similarity with RNF183
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 192)
  AUTHORS   Geng R, Tan X, Wu J, Pan Z, Yi M, Shi W, Liu R, Yao C, Wang G, Lin
            J, Qiu L, Huang W and Chen S.
  TITLE     RNF183 promotes proliferation and metastasis of colorectal cancer
            cells via activation of NF-kappaB-IL-8 axis
  JOURNAL   Cell Death Dis 8 (8), e2994 (2017)
   PUBMED   28796265
  REMARK    GeneRIF: RNF183 promotes proliferation and metastasis of colorectal
            cancer cells via activation of NF-kappaB-IL-8 axis
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 192)
  AUTHORS   Geng R, Tan X, Zuo Z, Wu J, Pan Z, Shi W, Liu R, Yao C, Wang G, Lin
            J, Qiu L, Huang W and Chen S.
  TITLE     Synthetic lethal short hairpin RNA screening reveals that ring
            finger protein 183 confers resistance to trametinib in colorectal
            cancer cells
  JOURNAL   Chin J Cancer 36 (1), 63 (2017)
   PUBMED   28756770
  REMARK    GeneRIF: The RNF183-IL-8 axis is responsible for the resistance of
            colorectal cancer (CRC)cells to the MEK1/2 inhibitor trametinib and
            may serve as a candidate target for combined therapy for CRC.
            Publication Status: Online-Only
REFERENCE   9  (residues 1 to 192)
  AUTHORS   Yu Q, Zhang S, Chao K, Feng R, Wang H, Li M, Chen B, He Y, Zeng Z
            and Chen M.
  TITLE     E3 Ubiquitin ligase RNF183 Is a Novel Regulator in Inflammatory
            Bowel Disease
  JOURNAL   J Crohns Colitis 10 (6), 713-725 (2016)
   PUBMED   26818663
  REMARK    GeneRIF: RNF183, which is negatively regulated by miR-7, is a novel
            regulator promoting intestinal inflammation by increasing the
            ubiquitination and degradation of IkappaBalpha, thereby inducing
            NF-kappaB activation. The interaction between RNF183-mediated
            ubiquitination and miRNA may be an important novel epigenetic
            mechanism in the pathogenesis of inflammatory bowel disease.
REFERENCE   10 (residues 1 to 192)
  AUTHORS   Maxfield KE, Taus PJ, Corcoran K, Wooten J, Macion J, Zhou Y,
            Borromeo M, Kollipara RK, Yan J, Xie Y, Xie XJ and Whitehurst AW.
  TITLE     Comprehensive functional characterization of cancer-testis antigens
            defines obligate participation in multiple hallmarks of cancer
  JOURNAL   Nat Commun 6, 8840 (2015)
   PUBMED   26567849
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL449305.4.
            On Jul 2, 2019 this sequence version replaced XP_006717015.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK091940.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..192
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q32"
     Protein         1..192
                     /product="E3 ubiquitin-protein ligase RNF183"
                     /EC_number="2.3.2.27"
                     /note="probable E3 ubiquitin-protein ligase RNF183"
                     /calculated_mol_wt=21486
     Region          11..66
                     /region_name="RING-HC_RNF183-like"
                     /note="RING finger, HC subclass, found in RING finger
                     protein RNF183, RNF223, RNF225 and similar proteins;
                     cd16556"
                     /db_xref="CDD:438218"
     Site            162..182
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96D59.2)"
     CDS             1..192
                     /gene="RNF183"
                     /coded_by="NM_001371236.1:1205..1783"
                     /db_xref="CCDS:CCDS43866.1"
                     /db_xref="GeneID:138065"
                     /db_xref="HGNC:HGNC:28721"
ORIGIN      
        1 maeqqgrele aecpvcwnpf nntfhtpkml dcchsfcvec lahlslvtpa rrrllcplcr
       61 qptvlasgqp vtdlptdtam lallrlephh vileghqlcl kdqpksryfl rqpqvytldl
      121 gpqpggqtgp ppdtasatvs tpilipshhs lrecfrnpqf rifaylmavi lsvtlllifs
      181 ifwtkqflwg vg
//
LOCUS       NP_001177765            1236 aa            linear   PRI 19-MAR-2023
DEFINITION  dynactin subunit 1 isoform 5 [Homo sapiens].
ACCESSION   NP_001177765
VERSION     NP_001177765.1
DBSOURCE    REFSEQ: accession NM_001190836.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1236)
  AUTHORS   Bu W and Su LK.
  TITLE     Characterization of functional domains of human EB1 family proteins
  JOURNAL   J Biol Chem 278 (50), 49721-49731 (2003)
   PUBMED   14514668
  REMARK    GeneRIF: neither APC nor p150glued binding domain is necessary for
            EB1 or EBF3 to induce microtubule bundling
REFERENCE   2  (residues 1 to 1236)
  AUTHORS   Askham JM, Vaughan KT, Goodson HV and Morrison EE.
  TITLE     Evidence that an interaction between EB1 and p150(Glued) is
            required for the formation and maintenance of a radial microtubule
            array anchored at the centrosome
  JOURNAL   Mol Biol Cell 13 (10), 3627-3645 (2002)
   PUBMED   12388762
REFERENCE   3  (residues 1 to 1236)
  AUTHORS   Pushkin A, Abuladze N, Newman D, Tatishchev S and Kurtz I.
  TITLE     Genomic organization of the DCTN1-SLC4A5 locus encoding both NBC4
            and p150(Glued)
  JOURNAL   Cytogenet Cell Genet 95 (3-4), 163-168 (2001)
   PUBMED   12063394
  REMARK    GeneRIF: Genomic organization of the DCTN1-SLC4A5 locus encoding
            both NBC4 and p150(Glued).
REFERENCE   4  (residues 1 to 1236)
  AUTHORS   Tokito MK and Holzbaur EL.
  TITLE     The genomic structure of DCTN1, a candidate gene for limb-girdle
            muscular dystrophy (LGMD2B)
  JOURNAL   Biochim Biophys Acta 1442 (2-3), 432-436 (1998)
   PUBMED   9805007
REFERENCE   5  (residues 1 to 1236)
  AUTHORS   Collin GB, Nishina PM, Marshall JD and Naggert JK.
  TITLE     Human DCTN1: genomic structure and evaluation as a candidate for
            Alstrom syndrome
  JOURNAL   Genomics 53 (3), 359-364 (1998)
   PUBMED   9799602
REFERENCE   6  (residues 1 to 1236)
  AUTHORS   Karki S, LaMonte B and Holzbaur EL.
  TITLE     Characterization of the p22 subunit of dynactin reveals the
            localization of cytoplasmic dynein and dynactin to the midbody of
            dividing cells
  JOURNAL   J Cell Biol 142 (4), 1023-1034 (1998)
   PUBMED   9722614
  REMARK    Erratum:[J Cell Biol 1998 Oct 19;143(2):following 560]
REFERENCE   7  (residues 1 to 1236)
  AUTHORS   Holzbaur EL and Tokito MK.
  TITLE     Localization of the DCTN1 gene encoding p150Glued to human
            chromosome 2p13 by fluorescence in situ hybridization
  JOURNAL   Genomics 31 (3), 398-399 (1996)
   PUBMED   8838327
REFERENCE   8  (residues 1 to 1236)
  AUTHORS   Dulski,J., Konno,T. and Wszolek,Z.
  TITLE     DCTN1-Related Neurodegeneration
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20945553
REFERENCE   9  (residues 1 to 1236)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301623
REFERENCE   10 (residues 1 to 1236)
  AUTHORS   Holzbaur EL, Hammarback JA, Paschal BM, Kravit NG, Pfister KK and
            Vallee RB.
  TITLE     Homology of a 150K cytoplasmic dynein-associated polypeptide with
            the Drosophila gene Glued
  JOURNAL   Nature 351 (6327), 579-583 (1991)
   PUBMED   1828535
  REMARK    Erratum:[Nature. 1992 Dec 17;360(6405):695. PMID: 1361213]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005041.2.
            
            Summary: This gene encodes the largest subunit of dynactin, a
            macromolecular complex consisting of 10 subunits ranging in size
            from 22 to 150 kD. Dynactin binds to both microtubules and
            cytoplasmic dynein. Dynactin is involved in a diverse array of
            cellular functions, including ER-to-Golgi transport, the
            centripetal movement of lysosomes and endosomes, spindle formation,
            chromosome movement, nuclear positioning, and axonogenesis. This
            subunit interacts with dynein intermediate chain by its domains
            directly binding to dynein and binds to microtubules via a highly
            conserved glycine-rich cytoskeleton-associated protein (CAP-Gly)
            domain in its N-terminus. Alternative splicing of this gene results
            in multiple transcript variants encoding distinct isoforms.
            Mutations in this gene cause distal hereditary motor neuronopathy
            type VIIB (HMN7B) which is also known as distal spinal and bulbar
            muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK297286.1, BC013978.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1236
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     Protein         1..1236
                     /product="dynactin subunit 1 isoform 5"
                     /note="dynactin 1 (p150, glued homolog, Drosophila); 150
                     kDa dynein-associated polypeptide"
                     /calculated_mol_wt=136690
     Region          12..77
                     /region_name="CAP_GLY"
                     /note="CAP-Gly domain; pfam01302"
                     /db_xref="CDD:426191"
     Region          181..>513
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          490..768
                     /region_name="Dynactin"
                     /note="Dynein associated protein; pfam12455"
                     /db_xref="CDD:432565"
     Region          <849..>1006
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..1236
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; P135"
                     /coded_by="NM_001190836.2:92..3802"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS54368.1"
                     /db_xref="GeneID:1639"
                     /db_xref="HGNC:HGNC:2711"
                     /db_xref="MIM:601143"
ORIGIN      
        1 msaeasarpl rvgsrvevig kghrgtvayv gatlfatgkw vgvildeakg kndgtvqgrk
       61 yftcdeghgi fvrqsqiqvf edgadttspe tpdssaskvl kregtdttak tsklptrpas
      121 tgvagasssl gpsgsasage lsssepstpa qtplaapiip tpvltspgav pplpspskee
      181 eglraqvrdl eekletlrlk raedkaklke lekhkiqleq vqewkskmqe qqadlqrrlk
      241 earkeakeal eakerymeem adtadaiema tldkemaeer aeslqqevea lkervdeltt
      301 dleilkaeie ekgsdgaass yqlkqleeqn arlkdalvrm rdlsssekqe hvklqklmek
      361 knqelevvrq qrerlqeels qaestidelk eqvdaalgae emvemltdrn lnleekvrel
      421 retvgdleam nemndelqen aretelelre qldmagarvr eaqkrveaaq etvadyqqti
      481 kkyrqltahl qdvnreltnq qeasverqqq pppetfdfki kfaetkahak aiemelrqme
      541 vaqanrhmsl ltafmpdsfl rpggdhdcvl vlllmprlic kaelirkqaq ekfelsencs
      601 erpglrgaag eqlsfaaglv yslsllqatl hryehalsqc svdvykkvgs lypemsaher
      661 sldfliellh kdqldetvnv epltkaikyy qhlysihlae qpedctmqla dhikftqsal
      721 dcmsvevgrl raflqggqea tdialllrdl etscsdirqf ckkirrrmpg tdapgipaal
      781 afgpqvsdtl ldcrkhltwv vavlqevaaa aaqliaplae negllvaale elafkaseqi
      841 ygtpssspye clrqscnili stmnklatam qegeydaerp pskpppvelr aaalraeitd
      901 aeglglkled retvikelkk slkikgeels eanvrlslle kkldsaakda deriekvqtr
      961 leetqallrk kekefeetmd alqadidqle aekaelkqrl nsqskrtieg lrgpppsgia
     1021 tlvsgiagga ipgqapgsvp gpglvkdspl llqqisamrl hisqlqhens ilkgaqmkas
     1081 laslpplhva klshegpgse lpagalyrkt sqlletlnql sththvvdit rtspaaksps
     1141 aqlmeqvaql kslsdtvekl kdevlketvs qrpgatvptd fatfpssafl rakeeqqddt
     1201 vymgkvtfsc aagfgqrhrl vltqeqlhql hsrlis
//
LOCUS       NP_001245202             515 aa            linear   PRI 19-MAR-2023
DEFINITION  DNA mismatch repair protein Mlh1 isoform 3 [Homo sapiens].
ACCESSION   NP_001245202
VERSION     NP_001245202.1
DBSOURCE    REFSEQ: accession NM_001258273.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 515)
  AUTHORS   Mahdouani M, Ben Ahmed S, Hmila F, Rais H, Ben Sghaier R, Saad H,
            Ben Said M, Masmoudi S, Hmida D, Brieger A, Zeuzem S, Saad A,
            Gribaa M and Plotz G.
  TITLE     Functional characterization of MLH1 missense variants unveils
            mechanisms of pathogenicity and clarifies role in cancer
  JOURNAL   PLoS One 17 (12), e0278283 (2022)
   PUBMED   36454741
  REMARK    GeneRIF: Functional characterization of MLH1 missense variants
            unveils mechanisms of pathogenicity and clarifies role in cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 515)
  AUTHORS   Rath A, Radecki AA, Rahman K, Gilmore RB, Hudson JR, Cenci M,
            Tavtigian SV, Grady JP and Heinen CD.
  TITLE     A calibrated cell-based functional assay to aid classification of
            MLH1 DNA mismatch repair gene variants
  JOURNAL   Hum Mutat 43 (12), 2295-2307 (2022)
   PUBMED   36054288
  REMARK    GeneRIF: A calibrated cell-based functional assay to aid
            classification of MLH1 DNA mismatch repair gene variants.
REFERENCE   3  (residues 1 to 515)
  AUTHORS   Boumehdi AL, Cherbal F, Khider F, Oukkal M, Mahfouf H, Zebboudj F
            and Maaoui M.
  TITLE     Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in
            64 Algerian Lynch syndrome families: The first nationwide study
  JOURNAL   Ann Hum Genet 86 (6), 328-352 (2022)
   PUBMED   36073783
  REMARK    GeneRIF: Germline variants screening of MLH1, MSH2, MSH6 and PMS2
            genes in 64 Algerian Lynch syndrome families: The first nationwide
            study.
REFERENCE   4  (residues 1 to 515)
  AUTHORS   Torres KA, Calil FA, Zhou AL, DuPrie ML, Putnam CD and Kolodner RD.
  TITLE     The unstructured linker of Mlh1 contains a motif required for
            endonuclease function which is mutated in cancers
  JOURNAL   Proc Natl Acad Sci U S A 119 (42), e2212870119 (2022)
   PUBMED   36215471
  REMARK    GeneRIF: The unstructured linker of Mlh1 contains a motif required
            for endonuclease function which is mutated in cancers.
REFERENCE   5  (residues 1 to 515)
  AUTHORS   Schamschula E, Kinzel M, Wernstedt A, Oberhuber K, Gottschling H,
            Schnaiter S, Friedrichs N, Merkelbach-Bruse S, Zschocke J, Gallon R
            and Wimmer K.
  TITLE     Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition
            Syndrome Provide Clues for the Interaction between Mismatch Repair
            and Polymerase delta Proofreading Deficiency in Tumorigenesis
  JOURNAL   Biomolecules 12 (10), 1350 (2022)
   PUBMED   36291559
  REMARK    GeneRIF: Teenage-Onset Colorectal Cancers in a Digenic Cancer
            Predisposition Syndrome Provide Clues for the Interaction between
            Mismatch Repair and Polymerase delta Proofreading Deficiency in
            Tumorigenesis.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 515)
  AUTHORS   Nystrom-Lahti M, Kristo P, Nicolaides NC, Chang SY, Aaltonen LA,
            Moisio AL, Jarvinen HJ, Mecklin JP, Kinzler KW, Vogelstein B et al.
  TITLE     Founding mutations and Alu-mediated recombination in hereditary
            colon cancer
  JOURNAL   Nat Med 1 (11), 1203-1206 (1995)
   PUBMED   7584997
REFERENCE   7  (residues 1 to 515)
  AUTHORS   Charbonnier F, Martin C, Scotte M, Sibert L, Moreau V and Frebourg
            T.
  TITLE     Alternative splicing of MLH1 messenger RNA in human normal cells
  JOURNAL   Cancer Res 55 (9), 1839-1841 (1995)
   PUBMED   7728749
REFERENCE   8  (residues 1 to 515)
  AUTHORS   Paraf F, Sasseville D, Watters AK, Narod S, Ginsburg O, Shibata H
            and Jothy S.
  TITLE     Clinicopathological relevance of the association between
            gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome
  JOURNAL   Hum Pathol 26 (4), 422-427 (1995)
   PUBMED   7705822
  REMARK    Review article
REFERENCE   9  (residues 1 to 515)
  AUTHORS   Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM,
            Krush AJ, Berk T, Cohen Z, Tetu B et al.
  TITLE     The molecular basis of Turcot's syndrome
  JOURNAL   N Engl J Med 332 (13), 839-847 (1995)
   PUBMED   7661930
REFERENCE   10 (residues 1 to 515)
  AUTHORS   Idos,G. and Valle,L.
  TITLE     Lynch Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301390
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN414955.1, AK316264.1 and
            BC006850.1.
            
            Summary: The protein encoded by this gene can heterodimerize with
            mismatch repair endonuclease PMS2 to form MutL alpha, part of the
            DNA mismatch repair system. When MutL alpha is bound by MutS beta
            and some accessory proteins, the PMS2 subunit of MutL alpha
            introduces a single-strand break near DNA mismatches, providing an
            entry point for exonuclease degradation. The encoded protein is
            also involved in DNA damage signaling and can heterodimerize with
            DNA mismatch repair protein MLH3 to form MutL gamma, which is
            involved in meiosis. This gene was identified as a locus frequently
            mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided
            by RefSeq, Aug 2017].
            
            Transcript Variant: This variant (6) lacks an alternate exon
            compared to variant 1, that causes a frameshift. The resulting
            isoform (3) is shorter at the N-terminus compared to isoform 1.
            Variants 3, 4, and 6-12 all encode the same isoform (3).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK316264.1, SRR1803611.189695.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153946, SAMEA2154529
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..515
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     Protein         1..515
                     /product="DNA mismatch repair protein Mlh1 isoform 3"
                     /note="DNA mismatch repair protein Mlh1; mutL homolog 1,
                     colon cancer, nonpolyposis type 2"
                     /calculated_mol_wt=58244
     Region          <1..94
                     /region_name="MutL_Trans_MLH1"
                     /note="transducer domain, having a ribosomal S5 domain
                     2-like fold, found in proteins similar to yeast and human
                     MLH1 (MutL homologue 1). This transducer domain is
                     homologous to the second domain of the DNA gyrase B
                     subunit, which is known to be important in...; cd03483"
                     /db_xref="CDD:239565"
     Region          <19..>186
                     /region_name="mutL"
                     /note="DNA mismatch repair endonuclease MutL; PRK00095"
                     /db_xref="CDD:234630"
     Site            70
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:239565"
     Region          261..515
                     /region_name="Mlh1_C"
                     /note="DNA mismatch repair protein Mlh1 C-terminus;
                     pfam16413"
                     /db_xref="CDD:435325"
     CDS             1..515
                     /gene="MLH1"
                     /gene_synonym="COCA2; FCC2; hMLH1; HNPCC; HNPCC2; LYNCH2;
                     MLH-1; MMRCS1"
                     /coded_by="NM_001258273.2:663..2210"
                     /note="isoform 3 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS54563.1"
                     /db_xref="GeneID:4292"
                     /db_xref="HGNC:HGNC:7127"
                     /db_xref="MIM:120436"
ORIGIN      
        1 mngyisnany svkkcifllf inhrlvests lrkaietvya aylpknthpf lylsleispq
       61 nvdvnvhptk hevhflhees ilervqqhie skllgsnssr myftqtllpg lagpsgemvk
      121 sttsltssst sgssdkvyah qmvrtdsreq kldaflqpls kplssqpqai vtedktdiss
      181 grarqqdeem lelpapaeva aknqslegdt tkgtsemsek rgptssnprk rhredsdvem
      241 veddsrkemt aactprrrii nltsvlslqe eineqghevl remlhnhsfv gcvnpqwala
      301 qhqtklylln ttklseelfy qiliydfanf gvlrlsepap lfdlamlald spesgwteed
      361 gpkeglaeyi veflkkkaem ladyfsleid eegnliglpl lidnyvpple glpifilrla
      421 tevnwdeeke cfeslskeca mfysirkqyi seestlsgqq sevpgsipns wkwtvehivy
      481 kalrshilpp khftedgnil qlanlpdlyk vferc
//
LOCUS       XP_047285529             206 aa            linear   PRI 20-MAR-2023
DEFINITION  3'(2'),5'-bisphosphate nucleotidase 1 isoform X8 [Homo sapiens].
ACCESSION   XP_047285529
VERSION     XP_047285529.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429573.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..206
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..206
                     /product="3'(2'),5'-bisphosphate nucleotidase 1 isoform
                     X8"
                     /calculated_mol_wt=22320
     Region          11..195
                     /region_name="FIG"
                     /note="FBPase/IMPase/glpX-like domain. A superfamily of
                     metal-dependent phosphatases with various substrates.
                     Fructose-1,6-bisphospatase (both the major and the
                     glpX-encoded variant) hydrolyze fructose-1,6,-bisphosphate
                     to fructose-6-phosphate in...; cl00289"
                     /db_xref="CDD:444812"
     Site            order(51,74..75,81..85,145)
                     /site_type="active"
                     /db_xref="CDD:238814"
     CDS             1..206
                     /gene="BPNT1"
                     /gene_synonym="HEL20; PIP"
                     /coded_by="XM_047429573.1:112..732"
                     /db_xref="GeneID:10380"
                     /db_xref="HGNC:HGNC:1096"
                     /db_xref="MIM:604053"
ORIGIN      
        1 massntvlmr lvasaysiaq kagmivrrvi aegdlgivek tcatdlqtka drlaqmsics
       61 slarkfpklt iigeelvvwv dpldgtkeyt eglldnvtvl igiayegkai agvinqpyyn
      121 yeiiqliegk asayvfaspg ckkwdtcape vilhavggkl tdihgnvlqy hkdvkhmnsa
      181 gvlatlrnyd yyasrvpesi knalvp
//
LOCUS       XP_011542512             477 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM17 isoform X1 [Homo sapiens].
ACCESSION   XP_011542512
VERSION     XP_011542512.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544210.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..477
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..477
                     /product="E3 ubiquitin-protein ligase TRIM17 isoform X1"
                     /calculated_mol_wt=54287
     Region          9..78
                     /region_name="RING-HC_TRIM17_C-IV"
                     /note="RING finger, HC subclass, found in tripartite
                     motif-containing protein TRIM17 and similar proteins;
                     cd16595"
                     /db_xref="CDD:438257"
     Region          98..140
                     /region_name="Bbox2_TRIM7-like"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing proteins TRIM7, TRIM27 and similar
                     proteins; cd19762"
                     /db_xref="CDD:380820"
     Region          296..472
                     /region_name="SPRY_PRY_TRIM17"
                     /note="PRY/SPRY domain of tripartite motif-binding protein
                     17 (TRIM17), also known as testis RING finger protein
                     (terf); cd15812"
                     /db_xref="CDD:293984"
     CDS             1..477
                     /gene="TRIM17"
                     /gene_synonym="RBCC; RNF16; terf"
                     /coded_by="XM_011544210.4:481..1914"
                     /db_xref="GeneID:51127"
                     /db_xref="HGNC:HGNC:13430"
                     /db_xref="MIM:606123"
ORIGIN      
        1 meavelarkl qeeatcsicl dyftdpvmtt cghnfcraci qlswekargk kgrrkrkgsf
       61 pcpecremsp qrnllpnrll tkvaemaqqh pglqkqdlcq ehheplklfc qkdqspicvv
      121 cresrehrlh rvlpaeeavq gyklkleedm eylreqitrt gnlqareeqs laewqgkvke
      181 rrerivlefe kmnlylveee qrllqalete eeetasrlre svacldrqgh slellllqle
      241 erstqgplqm lqdmkeplsr knnvsvqcpe vapptrprtv crvpgqievl rgfledvvpd
      301 atsaypylll yesrqrrylg sspegsgfcs kdrfvaypca vgqtafssgr hywevgmnit
      361 gdalwalgvc rdnvsrkdrv pkcpengfwv vqlskgtkyl stfsaltpvm lmeppshmgi
      421 fldfeagevs fysvsdgshl htysqatfpg plqpffclga pksgqmvist vtmwvkg
//
LOCUS       XP_047289357             310 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-1,4-galactosyltransferase 3 isoform X2 [Homo sapiens].
ACCESSION   XP_047289357
VERSION     XP_047289357.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433401.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 47% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..310
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..310
                     /product="beta-1,4-galactosyltransferase 3 isoform X2"
                     /calculated_mol_wt=34627
     Region          122..303
                     /region_name="b4GalT"
                     /note="Beta-4-Galactosyltransferase is involved in the
                     formation of the poly-N-acetyllactosamine core structures
                     present in glycoproteins and glycosphingolipids; cd00899"
                     /db_xref="CDD:132999"
     Site            order(130,132,134,169,195..197)
                     /site_type="active"
                     /note="ligand binding site [active]"
                     /db_xref="CDD:132999"
     Site            order(195,197,291)
                     /site_type="active"
                     /note="metal binding site [active]"
                     /db_xref="CDD:132999"
     CDS             1..310
                     /gene="B4GALT3"
                     /gene_synonym="beta4Gal-T3"
                     /coded_by="XM_047433401.1:902..1834"
                     /db_xref="GeneID:8703"
                     /db_xref="HGNC:HGNC:926"
                     /db_xref="MIM:604014"
ORIGIN      
        1 mlrrllerpc tlallvgsql avmmylslgg frslsalfgr dqgptfdysh prdvysnlsh
       61 lpgapggppa pqglpycper spllvgpvsv sfspvpslae ivernprvep ggryrpagce
      121 prsrtaiivp hrarehhlrl llyhlhpflq rqqlaygiyv ihqagngtfn rakllnvgvr
      181 ealrdeewdc lflhdvdllp endhnlyvcd prgprhvava mnkfgyslpy pqyfggvsal
      241 tpdqylkmng fpneywgwgg edddiatrvr lagmkisrpp tsvghykmvk hrgdkgneen
      301 phripgrkmg
//
LOCUS       XP_016871734             771 aa            linear   PRI 20-MAR-2023
DEFINITION  actin-binding LIM protein 1 isoform X9 [Homo sapiens].
ACCESSION   XP_016871734
VERSION     XP_016871734.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017016245.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..771
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..771
                     /product="actin-binding LIM protein 1 isoform X9"
                     /calculated_mol_wt=86985
     Region          22..73
                     /region_name="LIM1_abLIM"
                     /note="The first LIM domain of actin binding LIM (abLIM)
                     proteins; cd09327"
                     /db_xref="CDD:188713"
     Site            order(22,25,42,45,48,51,69,72)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188713"
     Region          78..133
                     /region_name="LIM2_abLIM"
                     /note="The second LIM domain on actin binding LIM (abLIM)
                     proteins; cd09328"
                     /db_xref="CDD:188714"
     Site            order(81,84,101,104,107,110,129,132)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188714"
     Region          149..200
                     /region_name="LIM3_abLIM"
                     /note="The third LIM domain of actin binding LIM (abLIM)
                     proteins; cd09329"
                     /db_xref="CDD:188715"
     Site            order(149,152,170,173,176,179,196,199)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188715"
     Region          208..263
                     /region_name="LIM4_abLIM"
                     /note="The fourth LIM domain of actin binding LIM (abLIM)
                     proteins; cd09330"
                     /db_xref="CDD:188716"
     Site            order(208,211,228,231,234,237,256,259)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188716"
     Region          300..721
                     /region_name="AbLIM_anchor"
                     /note="Putative adherens-junction anchoring region of
                     AbLIM; pfam16182"
                     /db_xref="CDD:435194"
     Region          736..771
                     /region_name="VHP"
                     /note="Villin headpiece domain; smart00153"
                     /db_xref="CDD:128458"
     CDS             1..771
                     /gene="ABLIM1"
                     /gene_synonym="ABLIM; abLIM-1; LIMAB1; LIMATIN"
                     /coded_by="XM_017016245.2:232..2547"
                     /db_xref="GeneID:3983"
                     /db_xref="HGNC:HGNC:78"
                     /db_xref="MIM:602330"
ORIGIN      
        1 msarvahpqd phhpsekpvi hchkcgepck gevlrvqtkh fhikcftckv cgcdlaqggf
       61 fikngeylct ldyqrmygtr chgcgefveg evvtalgkty hpncfactic krpfppgdrv
      121 tfngrdclcq lcaqpmsssp kettfssnca gcgrdikngq allaldkqwh lgcfkckscg
      181 kvltgeyisk dgapycekdy qglfgvkcea chqfitgkvl eagdkhyhps carcsrcnqm
      241 ftegeemylq gstvwhpdck qstkteeklr lpnirrsssd ffyskslirr tgrspslqpt
      301 rtssesiysr pgssipgspg htiyakvdne ildykdlaai pkvkaiydie rpdlityepf
      361 ytsgyddkqe rqslgesprt lsptpsaegy qdvrdrmihr stsqgsinsp vysrhsytpt
      421 tsrspqhfhr pellspgvqr lsylrtssls pthsdsrpnp pfrhhfiphi kgnepssgrn
      481 splpyrpdsr pltptyaqap khfhvpdqgi niyrkppiyk qhdaaalaaq skssediikf
      541 skfpaaqapd psetpkietd hwpgppsfav vgpdmkrrss greeddeell rrrqlqeeql
      601 mklnsglgql ilkeemekes rerssllasr ydspinsash ipssktaslp gygrnglhrp
      661 vstdfaqyns ygdvsggvrd yqtlpdghmp amrmdrgvsm pnmlepkifp yemlmvtnrg
      721 rnkilrevdr trlerhlape vfreifgmsi qefdrlplwr rndmkkkakl f
//
LOCUS       XP_047281347            2505 aa            linear   PRI 20-MAR-2023
DEFINITION  cilia- and flagella-associated protein 46 isoform X6 [Homo
            sapiens].
ACCESSION   XP_047281347
VERSION     XP_047281347.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425391.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2505
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..2505
                     /product="cilia- and flagella-associated protein 46
                     isoform X6"
                     /calculated_mol_wt=281071
     CDS             1..2505
                     /gene="CFAP46"
                     /gene_synonym="bA288G11.4; bA288G11.5; bB137A17.2;
                     bB137A17.3; C10orf123; C10orf124; C10orf92; C10orf93;
                     TTC40"
                     /coded_by="XM_047425391.1:87..7604"
                     /db_xref="GeneID:54777"
                     /db_xref="HGNC:HGNC:25247"
                     /db_xref="MIM:618543"
ORIGIN      
        1 mdlvitqela raesqqdaas lkkayeliks anlgksefdp sesfspdlfv lcaeqalkmr
       61 qpevsedciq myfkvkapit qflgrahlcr aqmcapksae nleefencvt eymkainfak
      121 gepryyflvy nasvlywqmv rpflkpgyrh hlipslsqii nvlsqteeed kewraelmle
      181 llecylqagr keeaarfcst aapfikshvp qkyrqifsvm vrhelmdelq lkeekknsis
      241 lsvtfyinml kakaeqndlp gdisvilrka yrhlghynhq rfpsiseekm lllfelarfs
      301 ltlkcmeiss aclsdlkkme skdpgkliem ecleceseal rleskmkvyn raaveaqldi
      361 iqrldvalqr avrlgdprvi hvvcatqwnt clpllqhnlr hhlrkplagv advlekldsl
      421 mtllrcqvhm emaqieeded rlepatehlr kaarldslgl yrdriqmast rlrlcttlyq
      481 aperaedkai maveqakkat pkdsvrkkra llvnaglala pdafqivlds eneakvstgk
      541 nrgrftylca kawhhtvsvd kaaghlrrlg nendkeriqi waelakvark qgvwdvcrta
      601 srfcllydnv kvkklrlrrg kkkrgrdgsv qdtwsqpevv lqrqvcpdll rkfaevgfih
      661 aeatvhllrs egvelndrai ppedlsqhpa gyvpeppevn aewityrtwi eslsrcamnn
      721 wlrsaeigqe iqeawivqna vvyvlnhnhh lilagrqkel vdalyhllsi vkatghsgdp
      781 vmlvtlcntl argliiswip vqaaeksrkf mrpnafhspl dagatseikt avevcefaln
      841 ltngsapeet vptgtrqqli atwvkakqll qqqigprlgt eeqgtnedvs svtrvlvale
      901 myscnglglm dftvpslaql vkmasecnws dplvelqtlt rlthfahaar dhettmacah
      961 ralemgikyl kkfgpeesrl vaemlctata iqgrsimenl kgrkqlrlva akaftesarf
     1021 ggiagssalv mlaarhywna wlpllssavy rkkakgalkr ligiinktea rkqekgktll
     1081 lhqwptadfq gggttegyfl pgaeddlalr aalygllfhs hadqddwegg lkvldeavqv
     1141 lprtahrlli fkhmvivkak lgqnfsmeiq kfkaesedyl armwhrlaln spsvsgelac
     1201 ynnaiqalqk pemewqkvey lmefgqwlhh rhfpledvvf hlrwaveill amkppgdvpe
     1261 pqptpdgeyv avempprspv seaeeavsle qlrsvrqlea larvhillal vlspgaegye
     1321 dcclaayaff rhiwqvslmt agksvlenrp laatsshlll pkkekeners kekekerske
     1381 kenerskekd kekgkeekvk epkqsqspap ikqledlpms ieewasyscp eevlsvlkqd
     1441 rsdstvnpss iqkptyslyf ldhlvkalqk mclheltvpv lqlgvlisds vvgskglsdl
     1501 yhlrlahacs elklreaaar heeavgqvcv seleqascrk eialkkeknk eplleeslpa
     1561 lneqtlpvqp geikpldakd kilkmngetg rdldgtsfph lwmlkaevll emnlyqparl
     1621 llseaylafq eldepcaeaq cllllaqlan keknygqakk miaqaqhlgg seefwynstl
     1681 tlaeallsme hsgreatvch ifqklinafk ilkkerpnrl pllefmitdl earclslrvr
     1741 vaqhsavtep tecslllkem ddglleierk fidcgckenc vdvkleraki krlraqnekd
     1801 eeqktayyle ayglaqgava eeegrlhsiq glyglaqgam aeeegrlhsv qgllslqdlq
     1861 nvntplmrkl arlklglvem aldmlqfiwe eahgqqseqg sleklladyl qntsdytsvg
     1921 lqwftlkrtl ahgalaqlgs lqplsvgcve irarllglag ralhllamqa dpvhptcywe
     1981 agpsvgakls glksleleve eegatkssrd ppasraapee hcrrgedlkr rmvlaqqyla
     2041 qasevllqcl qvalgsglld vaaaaslemv ecvgtldpat tcqflalsqs csasetmrdv
     2101 llaatantss sqlaallqlq hqlrcqdrtt tslgarveqr laavskawqn lcvteqhfnl
     2161 lnempptfwi lflhlsgdsr srlygaayek pkfitaakgk vqavggsckv mrlaisptaf
     2221 shllacaqqf rkqtqaqvys edmalnigse peglqveeke rpvqrlssvl gpleellqpl
     2281 fpllslskar vqtpavvads gkskgkdker ktstgqhstv qpevadkivl vadrhllelp
     2341 leglsvfdeg tissvsrefs lqmlwnrlhk eeteggvkke grsrdpkkrs lakkgrkgsi
     2401 prtippdcii vdsdnfkfvv dpyeeaqgpe mltpvsitqd ilerfqdtft srwaghlgsk
     2461 hfpsqaqweq algscsgfff ygmesflshi lverlvamnl qgqgc
//
LOCUS       XP_047281830             757 aa            linear   PRI 20-MAR-2023
DEFINITION  actin filament-associated protein 1-like 2 isoform X32 [Homo
            sapiens].
ACCESSION   XP_047281830
VERSION     XP_047281830.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425874.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..757
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..757
                     /product="actin filament-associated protein 1-like 2
                     isoform X32"
                     /calculated_mol_wt=84070
     Region          109..215
                     /region_name="PH1_AFAP"
                     /note="Actin filament associated protein family Pleckstrin
                     homology (PH) domain, repeat 1; cd13306"
                     /db_xref="CDD:270116"
     Region          297..397
                     /region_name="PH2_AFAP"
                     /note="Actin filament associated protein family Pleckstrin
                     homology (PH) domain, repeat 2; cd13307"
                     /db_xref="CDD:270117"
     Region          <625..>691
                     /region_name="PRK03918"
                     /note="DNA double-strand break repair ATPase Rad50"
                     /db_xref="CDD:235175"
     CDS             1..757
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /coded_by="XM_047425874.1:426..2699"
                     /db_xref="GeneID:84632"
                     /db_xref="HGNC:HGNC:25901"
                     /db_xref="MIM:612420"
ORIGIN      
        1 mnkvtinkqq naesqgkape eqgllpngep sqhssapqks lpdlpppkmi perkqlaipk
       61 tespegyyee aepydtslne dgeavsssye sydeedgskg ksapyqwpsp eagielmrda
      121 ricaflwrkk wlgqwakqlc vikdnrllcy ksskdhspql dvnllgssvi hkekqvrkke
      181 hklkitpmna dvivlglqsk dqaeqwlrvi qevsglpseg asegnqytpd aqrfncqkpd
      241 iaekylsase ygssvdghpe vpetkdvkkk csaglklsnl mnlgrkksts lepverslet
      301 ssylnvlvns qwksrwcsvr dnhlhfyqdr nrskvaqqpl slvgcevvpd pspdhlysfr
      361 ilhkgeelak leaksseemg hwlglllses gsktdpeeft ydyvdadrvs civsaaknsl
      421 llmqrkfsep ntyidglpsq drqeelyddv dlseltaave pteeatpvad dpneresdrv
      481 yldltpvksf lhgpssaqaq assptlscld natealpads gpgptpdepc ikcpenlgeq
      541 leslepedps lrittvkiqt eqqrisfpps cpdavvatpp gasppvkdrl rvtsaeiklg
      601 knrteaevkr yteekerlek kkeeirghla qlrkekrelk etllkctdke vlasleqklk
      661 eideecrgee srrvdlelsi mevkdnlkka eagpvtlgtt vdtthlenpk avtpasapdc
      721 tpvnsattlk nrplsvvvtg kgtvlqkake wekkgas
//
LOCUS       XP_016872379             442 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-CoA-binding domain-containing protein 5 isoform X4 [Homo
            sapiens].
ACCESSION   XP_016872379
VERSION     XP_016872379.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017016890.3
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_016872379.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 48% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..442
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..442
                     /product="acyl-CoA-binding domain-containing protein 5
                     isoform X4"
                     /calculated_mol_wt=49437
     Region          8..96
                     /region_name="ACBP"
                     /note="Acyl CoA binding protein (ACBP) binds thiol esters
                     of long fatty acids and coenzyme A in a one-to-one binding
                     mode with high specificity and affinity. Acyl-CoAs are
                     important intermediates in fatty lipid synthesis and fatty
                     acid degradation and play a...; cd00435"
                     /db_xref="CDD:238248"
     Site            order(16,19..20,22,25,30,32,35..36,38..39,42..43,60..61,
                     64..65,84)
                     /site_type="other"
                     /note="acyl-CoA binding pocket [chemical binding]"
                     /db_xref="CDD:238248"
     Site            order(20,39,42..43,65,84)
                     /site_type="other"
                     /note="CoA binding site [chemical binding]"
                     /db_xref="CDD:238248"
     CDS             1..442
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /coded_by="XM_017016890.3:134..1462"
                     /db_xref="GeneID:91452"
                     /db_xref="HGNC:HGNC:23338"
                     /db_xref="MIM:616618"
ORIGIN      
        1 madtrsvhet rfeaavkviq slpkngsfqp tnemmlkfys fykqategpc klsrpgfwdp
       61 igrykwdaws slgdmtkeea miayveemkk iietmpmtek veellrvigp fyeivedkks
      121 grssditsvr lekiskcled lgnvltstpn aktvngkaes sdsgaeseee eaqeevkgae
      181 qsdndinddh vedvtgiqhl tsdsdsevyc dsmeqfgqee sldsftsnng pfqyylgghs
      241 sqpmensgfr ediqvppgng nignmqvvav egkgevkhgg edgrnnsgap hrekrggetd
      301 efsnvrrgrg hrmqhlsegt kgrqvgsggd gerwgsdrgs rgslneqial vlmrlqedmq
      361 nvlqrlqkle tltalqakss tstlqtapqp tsqrpswwpf emspgvltfa iiwpfiaqwl
      421 vylyyqrrrr fllkcpssqr ss
//
LOCUS       XP_047282545            1436 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 164 kDa isoform X30 [Homo sapiens].
ACCESSION   XP_047282545
VERSION     XP_047282545.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426589.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1436
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1436
                     /product="centrosomal protein of 164 kDa isoform X30"
                     /calculated_mol_wt=161728
     Region          59..89
                     /region_name="WW"
                     /note="Two conserved tryptophans domain; also known as the
                     WWP or rsp5 domain; around 40 amino acids; functions as an
                     interaction module in a diverse set of signalling
                     proteins; binds specific proline-rich sequences but at low
                     affinities compared to other...; cd00201"
                     /db_xref="CDD:238122"
     Site            order(73,84)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          235..>585
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          <412..1064
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     CDS             1..1436
                     /gene="CEP164"
                     /gene_synonym="NPHP15"
                     /coded_by="XM_047426589.1:453..4763"
                     /db_xref="GeneID:22897"
                     /db_xref="HGNC:HGNC:29182"
                     /db_xref="MIM:614848"
ORIGIN      
        1 magrplrigd qlvleedyde tyipseqeil efareigidp ikepelmwla regivaplpg
       61 ewkpcqditg diyyfnfang qsmwdhpcde hyrslviqer aklstsgaik kkkkkkekkd
      121 kkdrdppkss lalgsslapv hvplgglapl rglvdtppsa lrgsqsvslg ssvesgrqlg
      181 elmlpsqglk tsaytkgllg siyedktals llglgeetne edeeesdnqe slrtsqpeek
      241 kdvsldsdaa gpptpckpss pgadsslssa vgkgrqgsga rpglpekeen eksepkicrn
      301 lvtpkadptg sepakaseke apedtvdage egsrreeaak epkkkasale egssdasqel
      361 eisehmkepq lsdsiasdpk sfhgldfgfr srisehlldv dvlspvlgga crqaqqplgi
      421 edkddsqssq delqskqskg leeryhrlsp plpheeraqs pprslateee ppqgpegqpe
      481 wkeaeelged saaslslqls lqreqapspp aacekgkeqh sqaeelgpgq eeaedpeekv
      541 avsptppvsp evrstepvap peqlseaalk ameeavaqvl eqdqrhlles kqekmqqlre
      601 klcqeeeeei lrlhqqkeqs lsslrerlqk aieeeearmr eeesqrlswl raqvqsstqa
      661 dedqiraeqe aslqklreel esqqkaeras leqknrqmle qlkeeiease kseqaalnaa
      721 kekalqqlre qlegerkeav atlekehsae lerlcsslea khrevvsslq kkiqeaqqke
      781 eaqlqkclgq vehrvhqksy hvagyehels sllrekrqev egeherrldk mkeehqqvma
      841 kareqyeaee rkqraellgh ltgelerlqr ahereletvr qeqhkrledl rrrhreqerk
      901 lqdleldlet rakdvkarla llevqeetar rekqqlldvq rqvalkseea tathqqleea
      961 qkehthllqs nqqlreilde lqarklkles qvdllqaqsq qlqkhfslea eaqkkqhllr
     1021 evtveennas phfepdlhie dlrkslgtnq tkevssslsq skedlyldsl sshnvwhlls
     1081 aegvalrsak eflvqqtrsm rrrqtalkaa qqhwrhelas aqevakdppg ikaledmrkn
     1141 leketrhlde mksamrkghn llkkkeekln qlesslweea sdegtlggsp tkkavtfdls
     1201 dmdslssess esfspphrew wrqqridstp sltsrkihgl shslrqissq lssvlsilds
     1261 lnpqspppll asmpaqlppr dpkstptpty ygslarfsal ssatptstqw awdsgqgprl
     1321 pssvaqtvdd fllekwrkyf psgipllsns ptplesrlgy msaseqlrll qhshsqvpea
     1381 gsttfqgiie anrrwlervk ndprlplfss tpkpkatlsl lqlgldehnr vkvyrf
//
LOCUS       XP_047286717             334 aa            linear   PRI 20-MAR-2023
DEFINITION  NEDD4-binding protein 2-like 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047286717
VERSION     XP_047286717.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430761.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 14% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..334
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..334
                     /product="NEDD4-binding protein 2-like 1 isoform X1"
                     /calculated_mol_wt=39426
     Region          164..268
                     /region_name="AAA_33"
                     /note="AAA domain; pfam13671"
                     /db_xref="CDD:433395"
     CDS             1..334
                     /gene="N4BP2L1"
                     /gene_synonym="CG018"
                     /coded_by="XM_047430761.1:3925..4929"
                     /db_xref="GeneID:90634"
                     /db_xref="HGNC:HGNC:25037"
ORIGIN      
        1 mplhfslgdr arlrleggga gnkkkrvrii rlkerriqep lihsqifteh lpcawhssrc
       61 sewssgqrrq kslpswnmys irekkfsrkk gnfsicsalf sqkiskgfhr yatggiypqe
      121 mstytqecsr ylgiiseqnk dpalvdlmcq rqlqhdfpra lifstddfff redgayefnp
      181 dfleeahewn qkrarkamrn gispiiidnt nlhawemkpy avmalennye vifrepdtrw
      241 kfnvqelarr nihgvsreki hrmkeryehd vtfhsvlhae kpsrmnrnqd rnnalpsnna
      301 rywnsytefp nrrahggftn essyhrrggc hhgy
//
LOCUS       XP_005267919             376 aa            linear   PRI 20-MAR-2023
DEFINITION  legumain isoform X3 [Homo sapiens].
ACCESSION   XP_005267919
VERSION     XP_005267919.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005267862.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..376
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..376
                     /product="legumain isoform X3"
                     /calculated_mol_wt=42817
     Region          29..285
                     /region_name="Peptidase_C13"
                     /note="Peptidase C13 family; pfam01650"
                     /db_xref="CDD:396290"
     Region          309..372
                     /region_name="legumain_C"
                     /note="C-terminal prodomain of legumain; cd21115"
                     /db_xref="CDD:411051"
     CDS             1..376
                     /gene="LGMN"
                     /gene_synonym="AEP; LGMN1; PRSC1"
                     /coded_by="XM_005267862.4:169..1299"
                     /db_xref="GeneID:5641"
                     /db_xref="HGNC:HGNC:9472"
                     /db_xref="MIM:602620"
ORIGIN      
        1 mvwkvavfls valgigavpi ddpedggkhw vvivagsngw ynyrhqadac hayqiihrng
       61 ipdeqivvmm yddiaysedn ptpgivinrp ngtdvyqgvp kdytgedvtp qnflavlrgd
      121 aeavkgigsg kvlksgpqdh vfiyftdhgs tgilvfpned lhvkdlneti hymykhkmyr
      181 kmvfyieace sgsmmnhlpd ninvyattaa npressyacy ydekrstylg dwysvnwmed
      241 sdvedltket lhkqyhlvks htntshvmqy gnktistmkv mqfqgmkrka sspvplppvt
      301 hldltpspdv pltimkrklm ntndleesrq lteeiqrhld yeyalrhlyv lvnlcekpyp
      361 lhriklsmdh vclghy
//
LOCUS       XP_047288335             645 aa            linear   PRI 20-MAR-2023
DEFINITION  D-glucuronyl C5-epimerase isoform X1 [Homo sapiens].
ACCESSION   XP_047288335
VERSION     XP_047288335.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432379.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..645
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..645
                     /product="D-glucuronyl C5-epimerase isoform X1"
                     /calculated_mol_wt=73528
     Region          444..635
                     /region_name="C5-epim_C"
                     /note="D-glucuronyl C5-epimerase C-terminus; pfam06662"
                     /db_xref="CDD:399566"
     CDS             1..645
                     /gene="GLCE"
                     /gene_synonym="HSEPI"
                     /coded_by="XM_047432379.1:9648..11585"
                     /db_xref="GeneID:26035"
                     /db_xref="HGNC:HGNC:17855"
                     /db_xref="MIM:612134"
ORIGIN      
        1 mtrnenyirw kfastkinee pwkwyglnmr claarvnykt liiicalftl vtvllwnkcs
       61 sdkaiqfprr sssgfrvdgf ekraaasesn nymnhvakqq seeafpqeqq kappvvggfn
      121 snvgskvlgl kyeeidclin dehtikgrre gnevflpftw vekyfdvygk vvqydgydrf
      181 efshsyskvy aqrapyhpdg vfmsfegynv evrdrvkcis gvegvplstq wgpqgyfypi
      241 qiaqyglshy sknltekpph ievyetaedr dknkpndwtv pkgcfmanva dksrftnvkq
      301 fiapetsegv slqlgntkdf iisfdlkflt ngsvsvvlet teknqlftih yvsnaqliaf
      361 kerdiyygig prtswstvtr dlvtdlrkgv glsntkavkp tkimpkkvvr liakgkgfld
      421 nitisttahm aaffaasdwl vrnqdekggw pimvtrklge gfkslepgwy samaqgqais
      481 tlvraylltk dhiflnsalr atapykflse qhgvkavfmn khdwyeeypt tpssfvlngf
      541 mysliglydl ketageklgk earslyergm eslkamlply dtgsgtiydl rhfmlgiapn
      601 larwdyhtth inqlqllsti despvfkefv krwksylkgs rakhn
//
LOCUS       XP_016877882             166 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and SCAN domain-containing protein 2 isoform X4 [Homo
            sapiens].
ACCESSION   XP_016877882
VERSION     XP_016877882.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017022393.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..166
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..166
                     /product="zinc finger and SCAN domain-containing protein 2
                     isoform X4"
                     /calculated_mol_wt=18588
     Region          70..143
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     CDS             1..166
                     /gene="ZSCAN2"
                     /gene_synonym="ZFP29; ZNF854"
                     /coded_by="XM_017022393.3:236..736"
                     /db_xref="GeneID:54993"
                     /db_xref="HGNC:HGNC:20994"
ORIGIN      
        1 mmaadiprvt tplsslvqvp qeedrqeeev ttmileddsw vqeavlqedg pesepfpqsa
       61 gkggpqeevt rgpqgalgrl relcrrwlrp evhtkeqmlt mlpkeiqawl qehrpessee
      121 aaalvedltq tlqdsgsqrv hqpfsvltvc kvssrsarra lelhln
//
LOCUS       XP_047289122            1022 aa            linear   PRI 20-MAR-2023
DEFINITION  multiple epidermal growth factor-like domains protein 11 isoform X3
            [Homo sapiens].
ACCESSION   XP_047289122
VERSION     XP_047289122.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433166.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1022
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1022
                     /product="multiple epidermal growth factor-like domains
                     protein 11 isoform X3"
                     /calculated_mol_wt=108291
     Region          25..94
                     /region_name="EMI"
                     /note="EMI domain; pfam07546"
                     /db_xref="CDD:429530"
     Region          275..320
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cl21504"
                     /db_xref="CDD:451279"
     CDS             1..1022
                     /gene="MEGF11"
                     /coded_by="XM_047433166.1:31..3099"
                     /db_xref="GeneID:84465"
                     /db_xref="HGNC:HGNC:29635"
                     /db_xref="MIM:612454"
ORIGIN      
        1 mvlsltglia fsflqatlal npedpnvcsh wesyavtvqe syahpfdqiy ytrctdilnw
       61 fkctrhrisy ktayrrglrt myrrrsqccp gyyesgdfci plcteecvhg rcvspdtchc
      121 epgwggpdcs sgcdsdhwgp hcsnrcqcqn galcnpitga cvcaagfrgw rceelcapgt
      181 hgkgcqlpcq crhgascdpr ageclcapgy tgvyceelcp pgshgahcel rcpcqnggtc
      241 hhitgecacp pgwtgavcaq pcppgtfgqn csqdcpchhg gqcdhvtgqc hctagymgdr
      301 cqeecpfgsf gfqcsqhcdc hnggqcsptt gacecepgyk gprcqerlcp eglhgpgctl
      361 pcpcdadnti schpvtgact cqpgwsghhc nescpvgyyg dgcqlpctcq ngadchsitg
      421 gctcapgfmg evcavscaag tygpncssic scnnggtcsp vdgsctckeg wqgldctlpc
      481 psgtwglncn esctcangaa cspidgscsc tpgwlgdtce lpcpdgtfgl ncsehcdcsh
      541 adgcdpvtgh ccclagwtgi rcdstcppgr wgpncsvscs cenggscspe dgscecapgf
      601 rgplcqricp pgfyghgcaq pcplcvhssr pchhisgice clpgfsgalc nqvcaggyfg
      661 qdcaqlcsca nngtcspidg scqcfpgwig kdcsqacppg fwgpacfhac schngascsa
      721 edgachctpg wtglfctqrc paaffgkdcg rvcqcqngas cdhisgkctc rtgftgqhce
      781 qrcapgtfgy gcqqlcecmn nstcdhvtgt cycspgfkgi rcdqaalmme elnpytkisp
      841 algaerhsvg avtgimlllf livvllglfa whrrrqkekg rdlaprvsyt pamrmtstdy
      901 slsdlsqsss hahcfsnssy halacggpat sqastldrns ptklsnksld rdtagwtpys
      961 yvnvldshfq isalearypp edfyielrhl srpaephspg acgmdrrqnt yimdkgfkva
     1021 pa
//
LOCUS       XP_047290184             639 aa            linear   PRI 20-MAR-2023
DEFINITION  protein arginine N-methyltransferase 7 isoform X12 [Homo sapiens].
ACCESSION   XP_047290184
VERSION     XP_047290184.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434228.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..639
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..639
                     /product="protein arginine N-methyltransferase 7 isoform
                     X12"
                     /calculated_mol_wt=72432
     Region          37..>186
                     /region_name="COG4076"
                     /note="Predicted RNA methylase [General function
                     prediction only]"
                     /db_xref="CDD:226562"
     CDS             1..639
                     /gene="PRMT7"
                     /gene_synonym="SBIDDS"
                     /coded_by="XM_047434228.1:165..2084"
                     /db_xref="GeneID:54496"
                     /db_xref="HGNC:HGNC:25557"
                     /db_xref="MIM:610087"
ORIGIN      
        1 mkifcsranp ttgsvewlee dehydyhqei arssyadmlh dkdrnvkyyq giraavsrvk
       61 drgqkalvld igtgtgllsm mavtagadfc yaievfkpma daavkivekn gfsdkikvin
      121 khstevtvgp egdmpcrani lvtelfdtel igegalpsye hahrhlveen ceavphratv
      181 yaqlvesgrm wswnklfpih vqtslgeqvi vppvdvescp gapsvcdiql nqvspadftv
      241 lsdvlpmfsi dfskqvsssa achsrrfepl tsgraqvvls wwdiemdpeg kikctmapfw
      301 ahsdpeemqw rdhwmqcvyf lpqeepvvqg salylvahhd dycvwyslqr tspeknervr
      361 qmrpvcdcqa hllwnrprfg eindqdrtdr yvqalrtvsl llgepfftts llpwhnlyfw
      421 yvrtavdqhl gpgamvmpqa aslhavvvef rdlwrirspc gdcegfdvhi mddmikrald
      481 fresreaeph plweypcrsl sepwqiltfd fqqpvplqpl caegtvelrr pgqshaavlw
      541 meyhltpect lstgllepad peggccwnph ckqavyffsp apdprallgg prtvsyavef
      601 hpdtgdiime frclasvlhq lvacqdlrld trqlsqsss
//
LOCUS       XP_011521527             594 aa            linear   PRI 20-MAR-2023
DEFINITION  protein VAC14 homolog isoform X2 [Homo sapiens].
ACCESSION   XP_011521527
VERSION     XP_011521527.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523225.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..594
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..594
                     /product="protein VAC14 homolog isoform X2"
                     /calculated_mol_wt=65735
     Region          12..35
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          53..78
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          67..163
                     /region_name="Vac14_Fab1_bd"
                     /note="Vacuolar 14 Fab1-binding region; pfam12755"
                     /db_xref="CDD:403838"
     Site            order(70..71,74,77..78,111..112,115,118..119,122,152..153,
                     155,158..159,162,193..194,197,203..204,234..235,238,
                     241..242)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          94..122
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          134..163
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          175..204
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          214..243
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     CDS             1..594
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /coded_by="XM_011523225.4:259..2043"
                     /db_xref="GeneID:55697"
                     /db_xref="HGNC:HGNC:25507"
                     /db_xref="MIM:604632"
ORIGIN      
        1 mnpekdfapl tpnivralnd klyekrkvaa leieklvref vaqnntvqik hviqtlsqef
       61 alsqhphsrk ggliglaacs ialgkdsgly lkeliepvlt cfndadsrlr yyacealyni
      121 vkvargavlp hfnvlfdgls klaadpdpnv ksgselldrl lkdivtesnk fdlvsfipll
      181 reriysnnqy arqfiiswil vlesvpdinl ldylpeildg lfqilgdngk eirkmcevvl
      241 geflkeikkn pssvkfaema nilvihcqtt ddliqltamc wmrefiqlag rvmlpyssgi
      301 ltavlpclay ddrkksikev anvcnqslmk lvtpeddeld elrpgqrqae ptpddalpkq
      361 egtasggpdg scdssfssgi svftaaster apvtlhldgi vqvlnchlsd taigmmtria
      421 vlkwlyhlyi ktprkmfrht dslfpillqt lsdesdevil kdlevlaeia sspagqtddp
      481 gpldgpdlqa shselqvptp gragllntsg tkglecspst ptmnsyfykf minllkrfss
      541 erkllevrgp fiirrgvtcp gpslelqlqt twadspnmgp sgppqyprra fast
//
LOCUS       XP_047291173             198 aa            linear   PRI 20-MAR-2023
DEFINITION  dual specificity protein phosphatase 14 isoform X1 [Homo sapiens].
ACCESSION   XP_047291173
VERSION     XP_047291173.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435217.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..198
                     /product="dual specificity protein phosphatase 14 isoform
                     X1"
                     /calculated_mol_wt=22124
     Region          20..169
                     /region_name="DUSP14"
                     /note="dual specificity protein phosphatase 14; cd14572"
                     /db_xref="CDD:350420"
     CDS             1..198
                     /gene="DUSP14"
                     /gene_synonym="MKP-L; MKP6"
                     /coded_by="XM_047435217.1:646..1242"
                     /db_xref="GeneID:11072"
                     /db_xref="HGNC:HGNC:17007"
                     /db_xref="MIM:606618"
ORIGIN      
        1 mssrghstlp rtlmaprmis egdiggiaqi tsslflgrgs vasnrhllqa rgitcivnat
       61 ieipnfnwpq feyvkvplad mphapiglyf dtvadkihsv srkhgatlvh caagvsrsat
      121 lciaylmkfh nvclleaynw vkarrpvirp nvgfwrqlid yerqlfgkst vkmvqtpygi
      181 vpdvyekesr hlmpywgi
//
LOCUS       XP_047292080             874 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM37 isoform X31 [Homo sapiens].
ACCESSION   XP_047292080
VERSION     XP_047292080.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436124.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..874
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..874
                     /product="E3 ubiquitin-protein ligase TRIM37 isoform X31"
                     /calculated_mol_wt=97580
     Region          <6..21
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Region          59..98
                     /region_name="Bbox2_TRIM37_C-VIII"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein 37 (TRIM37) and similar proteins;
                     cd19779"
                     /db_xref="CDD:380837"
     Region          98..220
                     /region_name="BBC"
                     /note="B-Box C-terminal domain; smart00502"
                     /db_xref="CDD:128778"
     Region          236..355
                     /region_name="MATH_TRIM37"
                     /note="Tripartite motif containing protein 37 (TRIM37)
                     family, MATH domain; TRIM37 is a peroxisomal protein and
                     is a member of the tripartite motif (TRIM) protein
                     subfamily, also known as the RING-B-box-coiled-coil (RBCC)
                     subfamily of zinc-finger proteins; cd03773"
                     /db_xref="CDD:239742"
     Site            271
                     /site_type="active"
                     /note="Mulibrey nanism-associated mutation residue
                     [active]"
                     /db_xref="CDD:239742"
     Site            order(277,321..323)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:239742"
     CDS             1..874
                     /gene="TRIM37"
                     /gene_synonym="MUL; POB1; TEF3"
                     /coded_by="XM_047436124.1:420..3044"
                     /db_xref="GeneID:4591"
                     /db_xref="HGNC:HGNC:7523"
                     /db_xref="MIM:605073"
ORIGIN      
        1 mdeqsverwl teqraqcphc raplqlrelv ncrwaeevtq qldtlqlcsl tkheenekdk
       61 cenhheklsv fcwtckkcic hqcalwggmh gghtfkplae iyeqhvtkvn eevaklrrrl
      121 melislvqev ernveavrna kdervreirn avemmiarld tqlknklitl mgqktsltqe
      181 tellesllqe vehqlrscsk seliskssei lmmfqqvhrk pmasfvttpv ppdftstlrq
      241 radpvysppl qvsglcwrlk vypdgngvvr gyylsvflel saglpetsky eyrvemvhqs
      301 cndptkniir efasdfevge cwgynrffrl dllanegyln pqndtvilrf qvrsptffqk
      361 srdqhwyitq leaaqtsyiq qinnlkerlt ielsrtqksr dlsppdnhls pqnddaletr
      421 akksacsdml leggpttasv reakedeede ekiqnedyhh elsdgdldld lvyedevnql
      481 dgssssasst atsnteendi deetmsgend veynnmelee gelmedaaaa gpagsshgyv
      541 gsssrisrrt hlcsaatssl ldidplilih lldlkdrssi enlwglqprp pasllqptas
      601 ysrkdkdqrk qqamwrvpsd lkmlkrlktq maevrcmktd vkntlseiks ssaasgdmqt
      661 slfsadqaal aacgtensgr lqdlgmella kssvancyir nstnkksnsp kparssvags
      721 lslrravdpg ensrskgdcq tlsegspgss qsgsrhsspr alihgsigdi lpktedrqck
      781 aldsdavvva vfsglpavek rrkmvtlgan akgghleglq mtdlennset gelqpvlpeg
      841 asaapeedth ssfpdgeqig pedlsfntde nsgr
//
LOCUS       XP_047294120             382 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 787 isoform X1 [Homo sapiens].
ACCESSION   XP_047294120
VERSION     XP_047294120.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438164.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..382
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..382
                     /product="zinc finger protein 787 isoform X1"
                     /calculated_mol_wt=40297
     Region          <67..200
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          68..88
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(73,75,77,79..80,83..84,87,101,103,107..108,111..112,
                     115,129,131,133,135..136,139..140,143)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          96..116
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          124..144
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          152..172
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          180..200
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          282..302
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          319..339
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..382
                     /gene="ZNF787"
                     /gene_synonym="TIP20"
                     /coded_by="XM_047438164.1:91..1239"
                     /db_xref="GeneID:126208"
                     /db_xref="HGNC:HGNC:26998"
ORIGIN      
        1 melreeawsp gpldsedqqm ashenpvdil imddddvpsw pptklsppqs appagppprp
       61 rppapyicne cgksfshwsk ltrhqrthtg erpnacadcg ktfsqsshlv qhrrihtgek
      121 pyaclecgkr fswssnlmqh qrihtgekpy tcpdcgrsft qskslakhrr shsglkpfvc
      181 prcgrgfsqp kslarhlrlh pelsgpgvaa kvlaasvrra kgpeeavaad geiaipvgdg
      241 egiivvgapg egaaaaaama gagakaagpr srrapapkpy vclecgkgfg hgagllahqr
      301 aqhgdglgaa ggeepahicv ecgegfvqga alrrhkkiha vgapsvcssc gqsyyragge
      361 eeddddeaag grcpecrgge gr
//
LOCUS       XP_047294693             532 aa            linear   PRI 20-MAR-2023
DEFINITION  heterogeneous nuclear ribonucleoprotein L isoform X1 [Homo
            sapiens].
ACCESSION   XP_047294693
VERSION     XP_047294693.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438737.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..532
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..532
                     /product="heterogeneous nuclear ribonucleoprotein L
                     isoform X1"
                     /calculated_mol_wt=59232
     Region          43..530
                     /region_name="hnRNP-L_PTB"
                     /note="hnRNP-L/PTB/hephaestus splicing factor family;
                     TIGR01649"
                     /db_xref="CDD:273733"
     CDS             1..532
                     /gene="HNRNPL"
                     /gene_synonym="hnRNP-L; HNRPL; P/OKcl.14"
                     /coded_by="XM_047438737.1:16..1614"
                     /db_xref="GeneID:3191"
                     /db_xref="HGNC:HGNC:5045"
                     /db_xref="MIM:603083"
ORIGIN      
        1 msrrllprae krrrrleqrq qpdeqrrrsg amenyddphk tpaspvvhir glidgvvead
       61 lvealqefgp isyvvvmpkk rqalvefedv lgacnavnya adnqiyiagh pafvnystsq
      121 kisrpgdsdd srsvnsvllf tilnpiysit tdvlyticnp cgpvqrivif rkngvqamve
      181 fdsvqsaqra kaslngadiy sgcctlkiey akptrlnvfk ndqdtwdytn pnlsgqgdpg
      241 snpnkrqrqp pllgdhpaey ggphggyhsh yhdegygppp phyegrrmgp pvgghrrgps
      301 rygpqyghpp ppppppeygp hadspvlmvy gldqskmncd rvfnvfclyg nvekvkfmks
      361 kpgaamvema dgyavdrait hlnnnfmfgq klnvcvskqp aimpgqsygl edgscsykdf
      421 sesrnnrfst peqaaknriq hpsnvlhffn aplevteenf feicdelgvk rpssvkvfsg
      481 ksersssgll ewesksdale tlgflnhyqm knpngpypyt lklcfstaqh as
//
LOCUS       XP_011509451             272 aa            linear   PRI 20-MAR-2023
DEFINITION  ciliogenesis-associated TTC17-interacting protein isoform X4 [Homo
            sapiens].
ACCESSION   XP_011509451
VERSION     XP_011509451.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011511149.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..272
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..272
                     /product="ciliogenesis-associated TTC17-interacting
                     protein isoform X4"
                     /calculated_mol_wt=31037
     Region          201..239
                     /region_name="DD_CATIP"
                     /note="dimerization/docking (D/D) domain found in
                     ciliogenesis-associated TTC17-interacting protein (CATIP)
                     and similar proteins; cd22973"
                     /db_xref="CDD:438542"
     Site            order(205,209..210,213..214,217..218,221..222)
                     /site_type="other"
                     /note="putative AKAP interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:438542"
     Site            order(209,212..213,216..217,220..221,224..225,227..230,
                     232..233,236,238)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:438542"
     CDS             1..272
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /coded_by="XM_011511149.3:170..988"
                     /db_xref="GeneID:375307"
                     /db_xref="HGNC:HGNC:25062"
                     /db_xref="MIM:619387"
ORIGIN      
        1 meqhsqdfik flilpmerkm sllkqddqla vtrsikegee vktgvtsfpw ssikgfisea
       61 anlvllrvma wrrmvpsnar fltldtegkl cyltyqnlgf qtiqvdhqqa evfiveqtvh
      121 aeegipmscq yyllsdghla kriqvgspgc ciitkmpilr eedeieprpv fekkplvwee
      181 dmelyskfld rkeelrlgha sylrqhpeah alisdfllfl llrqpedvvt faaeffgpfd
      241 pwrpsspalg sshrpnpfrs lepegdarsg aa
//
LOCUS       XP_047301555             727 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ITPRID2 isoform X8 [Homo sapiens].
ACCESSION   XP_047301555
VERSION     XP_047301555.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445599.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..727
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..727
                     /product="protein ITPRID2 isoform X8"
                     /calculated_mol_wt=79976
     Region          332..485
                     /region_name="SSFA2_C"
                     /note="Sperm-specific antigen 2 C-terminus; pfam14723"
                     /db_xref="CDD:434158"
     CDS             1..727
                     /gene="ITPRID2"
                     /gene_synonym="CS-1; CS1; KRAP; SPAG13; SSFA2"
                     /coded_by="XM_047445599.1:197..2380"
                     /db_xref="GeneID:6744"
                     /db_xref="HGNC:HGNC:11319"
                     /db_xref="MIM:118990"
ORIGIN      
        1 mgssadscds ettvtslged latptaqdqp yfneseeesl vplqkgleka aavadkrksg
       61 sqdfpqcnti entgtkqstc spgdhiieit eveedlfpae tvellreasa esdvgksses
      121 eftqytthhi lkslasieak csdmssentt gppssmdrvn talqraqmkv cslsnqrmgr
      181 sllkskdllk qrylfakagy plrrsqslpt tllspvrvvs svnvrlspgk etrcsppsft
      241 ykytpeeeqe lekrvmehdg qslvkstifi spssvkkeea pqseaprvee chhgrtptcs
      301 rlapppmsqs tcslhsihse wqerplceht rtlsthsvpn isgatcsafa spfgcpyshr
      361 hatypyrvcs vnppsaiemq lrrvlhdirn slqnlsqypm mrgpdpaaap ystqkssvlp
      421 lyentfqelq vmrrslnlfr tqmmdlelam lrqqtmvyhh mteeerfevd qlqglrnsvr
      481 melqdlelql eerllgleeq lravrmpspf rssalmgmcg srsadnlscp splnvmepvt
      541 elmqeqsylk selglglgem gfeippgess esvfsqatse sssvcsgpsh anrrtgvpst
      601 asvgksktpl varkkvfras valtptapsr tgsvqtppdl esseevdaae gapevvgpks
      661 eveeghgklp smpaaeemhk nveqdelqqv ireikesivg eirreivsgl laavssskas
      721 nskqdyh
//
LOCUS       XP_047303420             357 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-17 receptor E isoform X12 [Homo sapiens].
ACCESSION   XP_047303420
VERSION     XP_047303420.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447464.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..357
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..357
                     /product="interleukin-17 receptor E isoform X12"
                     /calculated_mol_wt=39159
     Region          <100..138
                     /region_name="IL17_R_N"
                     /note="Interleukin-17 receptor extracellular region;
                     pfam15037"
                     /db_xref="CDD:434410"
     Region          178..301
                     /region_name="TIR_2"
                     /note="TIR domain; cl23749"
                     /db_xref="CDD:451524"
     CDS             1..357
                     /gene="IL17RE"
                     /coded_by="XM_047447464.1:122..1195"
                     /db_xref="GeneID:132014"
                     /db_xref="HGNC:HGNC:18439"
                     /db_xref="MIM:614995"
ORIGIN      
        1 mpppdwvshi leckhgypsp aadsslllkn achlqcclep prlgaghfga prvhcqpgit
       61 eardwpshiq vscspgvpir epqtsnclwf vrneatqqea rgsspvsldl iipflrpgcc
      121 vlvwrsdvqf awkhllcpdv syrhlgllil allalltllg vvlaltcrrp qsgpgparpv
      181 lllhaadsea qrrlvgalae llraalgggr dvivdlwegr hvarvgplpw lwaartrvar
      241 eqgtvlllws gadlrpvsgp dpraapllal lhaaprplll layfsrlcak gdippplral
      301 pryrllrdlp rllraldarp faeatswgrl garqrrqsrl elcsrlerea arladlg
//
LOCUS       XP_016862214            1734 aa            linear   PRI 20-MAR-2023
DEFINITION  protein polybromo-1 isoform X1 [Homo sapiens].
ACCESSION   XP_016862214
VERSION     XP_016862214.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017006725.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1734
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1734
                     /product="protein polybromo-1 isoform X1"
                     /calculated_mol_wt=198001
     Region          65..177
                     /region_name="Bromo_polybromo_I"
                     /note="Bromodomain, polybromo repeat I. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05524"
                     /db_xref="CDD:99954"
     Site            order(97,102,105,144,148,154)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99954"
     Region          212..314
                     /region_name="Bromo_polybromo_II"
                     /note="Bromodomain, polybromo repeat II. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05517"
                     /db_xref="CDD:99948"
     Site            order(242,247,250,289,293,299)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99948"
     Region          413..514
                     /region_name="Bromo_polybromo_III"
                     /note="Bromodomain, polybromo repeat III. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05520"
                     /db_xref="CDD:99951"
     Site            order(442,447,450,489,493,499)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99951"
     Region          564..667
                     /region_name="Bromo_polybromo_IV"
                     /note="Bromodomain, polybromo repeat IV. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05518"
                     /db_xref="CDD:99949"
     Site            order(595,600,603,642,646,652)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99949"
     Region          703..807
                     /region_name="Bromo_polybromo_V"
                     /note="Bromodomain, polybromo repeat V. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05515"
                     /db_xref="CDD:99946"
     Site            order(733,738,741,780,784,790)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99946"
     Region          820..927
                     /region_name="Bromo_polybromo_VI"
                     /note="Bromodomain, polybromo repeat VI. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05526"
                     /db_xref="CDD:99956"
     Site            order(853,854,857,896,900,906)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99956"
     Region          1002..1119
                     /region_name="BAH_polybromo"
                     /note="BAH, or Bromo Adjacent Homology domain, as present
                     in polybromo and yeast RSC1/2. The human polybromo protein
                     (BAF180) is a component of the SWI/SNF
                     chromatin-remodeling complex PBAF. It is thought that
                     polybromo participates in transcriptional...; cd04717"
                     /db_xref="CDD:240068"
     Region          1200..1318
                     /region_name="BAH_polybromo"
                     /note="BAH, or Bromo Adjacent Homology domain, as present
                     in polybromo and yeast RSC1/2. The human polybromo protein
                     (BAF180) is a component of the SWI/SNF
                     chromatin-remodeling complex PBAF. It is thought that
                     polybromo participates in transcriptional...; cd04717"
                     /db_xref="CDD:240068"
     Region          1425..1484
                     /region_name="HMG-box_PB1"
                     /note="high mobility group (HMG)-box found in protein
                     polybromo-1 (PB1) and similar proteins; cd21984"
                     /db_xref="CDD:438800"
     Site            order(1425..1426,1428..1432,1435..1436,1443,1455..1456,
                     1459,1462..1463,1470,1474,1477,1481,1484)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438800"
     CDS             1..1734
                     /gene="PBRM1"
                     /gene_synonym="BAF180; PB1; RCC; SMARCH1"
                     /coded_by="XM_017006725.2:386..5590"
                     /db_xref="GeneID:55193"
                     /db_xref="HGNC:HGNC:30064"
                     /db_xref="MIM:606083"
ORIGIN      
        1 mrrlafrgag calvklkkld smgskrrrat spsssvsgdf ddghhsvstp gpsrkrrrls
       61 nlptvdpiav chelyntird ykdeqgrllc elfirapkrr nqpdyyevvs qpidlmkiqq
      121 klkmeeyddv nlltadfqll fnnaksyykp dspeykaack lwdlylrtrn efvqkgeadd
      181 edddedgqdn qgtvtegkvl fsphyqsspa ylkeileqll eaivvatnps grliselfqk
      241 lpskvqypdy yaiikepidl ktiaqriqng syksihamak didllaknak tynepgsqvf
      301 kdansikkif ymkkaeiehh emaksslrmr tpsnlaaarl tgpshskgsl geernptsky
      361 yrnkravqgg rlsaitmalq ygseseedaa laaaryeege seaesitsfm dvsnpfyqly
      421 dtvrscrnnq gqliaepfyh lpskkkypdy yqqikmpisl qqirtklknq eyetldhlec
      481 dlnlmfenak rynvpnsaiy krvlklqqvm qakkkelarr ddiedgdsmi ssatsdtgsa
      541 krkrnthdse mlglrrlssk knirkqrmki lfnvvleare pgsgrrlcdl fmvkpskkdy
      601 pdyykiilep mdlkiiehni rndkyageeg miedmklmfr narhyneegs qvyndahile
      661 kllkekrkel gplpddddma spklklsrks gispkkskym tpmqqklnev yeavknytdk
      721 rgrrlsaifl rlpsrselpd yyltikkpmd mekirshmma nkyqdidsmv edfvmmfnna
      781 ctynepesli ykdalvlhkv lletrrdleg dedshvpnvt lliqelihnl fvsvmshqdd
      841 egrcysdsla eipavdpnfp nkppltfdii rknvennryr rldlfqehmf evlerarrmn
      901 rtdseiyeda velqqffiki rdelckngei llspalsytt khlhndveke rkeklpkeie
      961 edklkreeek reaeksedss gaaglsglhr tysqdcsfkn smyhvgdyvy vepaeanlqp
     1021 hivcierlwe dsagekwlyg cwfyrpnetf hlatrkflek evfksdyynk vpvskilgkc
     1081 vvmfvkeyfk lcpenfrded vfvcesrysa ktksfkkikl wtmpissvrf vprdvplpvv
     1141 rvasvfanad kgddekntdn sedsraednf nlekekedvp vemsngepgc hyfeqlhynd
     1201 mwlkvgdcvf ikshglvrpr vgriekvwvr dgaayfygpi fihpeetehe ptkmfykkev
     1261 flsnleetcp mtcilgkcav lsfkdflscr pteipendil lcesrynesd kqmkkfkglk
     1321 rfslsakvvd deiyyfrkpi vpqkepspll ekkiqlleak faeleggddd ieemgeedse
     1381 vieppslpql qtplaseldl mpytppqstp ksakgsakke gskrkinmsg yilfssemra
     1441 vikaqhpdys fgelsrlvgt ewrnletakk aeyeeraakv aeqqereraa qqqqpsaspr
     1501 agtpvgalmg vvppptpmgm lnqqltpvag mmggyppglp plqgpvdglv smgsmqplhp
     1561 ggppphhlpp gvpglpgipp pgvmnqgvap mvgtpapggs pygqqvgvlg ppgqqapppy
     1621 pgphpagppv iqqpttpmfv apppktqrll hseaylkyie glsaesnsis kwdqtlaarr
     1681 rdvhlskeqe srlpshwlks kgahttmada lwrlrdlmlr dtlnirqayn lenv
//
LOCUS       XP_047305542             783 aa            linear   PRI 20-MAR-2023
DEFINITION  H(+)/Cl(-) exchange transporter 3 isoform X4 [Homo sapiens].
ACCESSION   XP_047305542
VERSION     XP_047305542.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449586.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..783
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..783
                     /product="H(+)/Cl(-) exchange transporter 3 isoform X4"
                     /calculated_mol_wt=87151
     Region          101..607
                     /region_name="ClC_3_like"
                     /note="ClC-3-like chloride channel proteins. This CD
                     includes ClC-3, ClC-4, ClC-5 and ClC-Y1. ClC-3 was
                     initially cloned from rat kidney. Expression of ClC-3
                     produces outwardly-rectifying Cl currents that are
                     inhibited by protein kinase C activation. It has...;
                     cd03684"
                     /db_xref="CDD:239656"
     Site            order(203..207,245..249,490..494,595)
                     /site_type="active"
                     /note="putative Cl- selectivity filter [active]"
                     /db_xref="CDD:239656"
     Site            247
                     /site_type="active"
                     /note="putative pore gating glutamate residue [active]"
                     /db_xref="CDD:239656"
     Site            304
                     /site_type="active"
                     /note="putative H+/Cl- coupling transport residue
                     [active]"
                     /db_xref="CDD:239656"
     Region          618..768
                     /region_name="CBS_pair_voltage-gated_CLC_euk_bac"
                     /note="Two tandem repeats of the cystathionine
                     beta-synthase (CBS pair) domains associated with the
                     voltage gated CLC (chloride channel) in eukaryotes and
                     bacteria; cd04591"
                     /db_xref="CDD:341367"
     Site            order(624,631..633,656..658,747,759,761,763..764,767)
                     /site_type="other"
                     /note="ligand binding site II [chemical binding]"
                     /db_xref="CDD:341367"
     Region          624..719
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341367"
     Site            order(656,671,675..676,679,725,747..749,763)
                     /site_type="other"
                     /note="putative ligand binding site I [chemical binding]"
                     /db_xref="CDD:341367"
     Region          725..767
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341367"
     CDS             1..783
                     /gene="CLCN3"
                     /gene_synonym="ClC-3; CLC3; NEDHYBA; NEDSBA"
                     /coded_by="XM_047449586.1:97..2448"
                     /db_xref="GeneID:1182"
                     /db_xref="HGNC:HGNC:2021"
                     /db_xref="MIM:600580"
ORIGIN      
        1 mnlndedhhf tsleidhrgt hytmtnggsi nssthlldll depipgvgty ddfhtidwvr
       61 ekckdrerhr rinskkkesa wemtkslyda wsgwlvvtlt glasgalagl idiaadwmtd
      121 lkegiclsal wynheqccwg snettfeerd kcpqwktwae liigqaegpg syimnyimyi
      181 fwalsfafla vslvkvfapy acgsgipeik tilsgfiirg ylgkwtlmik titlvlavas
      241 glslgkegpl vhvacccgni fsylfpkyst neakkrevls aasaagvsva fgapiggvlf
      301 sleevsyyfp lktlwrsffa alvaafvlrs inpfgnsrlv lfyveyhtpw ylfelfpfil
      361 lgvfgglwga ffiraniawc rrrkstkfgk ypvleviiva aitaviafpn pytrlntsel
      421 ikelftdcgp lessslcdyr ndmnaskivd dipdrpagig vysaiwqlcl alifkiimtv
      481 ftfgikvpsg lfipsmaiga iagrivgiav eqlayyhhdw fifkewcevg adcitpglya
      541 mvgaaaclgg vtrmtvslvv ivfeltggle yivplmaavm tskwvgdafg regiyeahir
      601 lngypfldak eefthttlaa dvmrprrndp plavltqdnm tvddienmin etsyngfpvi
      661 mskesqrlvg falrrdltia iesarkkqeg ivgssrvcfa qhtpslpaes prplklrsil
      721 dmspftvtdh tpmeivvdif rklglrqclv thngrllgii tkkdilrhma qtanqdpasi
      781 mfn
//
LOCUS       XP_016864047             502 aa            linear   PRI 20-MAR-2023
DEFINITION  bone morphogenetic protein receptor type-1B isoform X1 [Homo
            sapiens].
ACCESSION   XP_016864047
VERSION     XP_016864047.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017008558.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..502
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..502
                     /product="bone morphogenetic protein receptor type-1B
                     isoform X1"
                     /calculated_mol_wt=56800
     Region          30..106
                     /region_name="Activin_recp"
                     /note="Activin types I and II receptor domain; pfam01064"
                     /db_xref="CDD:426025"
     Region          198..502
                     /region_name="STKc_BMPR1b"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Bone Morphogenetic Protein Type IB; cd14219"
                     /db_xref="CDD:271121"
     Site            order(210..214,218,229,231,259,279..282,286,288,332,334,
                     336..337,339,350,353,373..376)
                     /site_type="active"
                     /db_xref="CDD:271121"
     Site            order(210..216,218,229,231,279..280,282,286,336..337,339,
                     350)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271121"
     Site            order(214,286,288,332,334,336,353,373..376)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271121"
     Site            order(241..242,245..246,249,264,266)
                     /site_type="other"
                     /note="FKBP12 binding site [polypeptide binding]"
                     /db_xref="CDD:271121"
     Site            349..376
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271121"
     CDS             1..502
                     /gene="BMPR1B"
                     /gene_synonym="ALK-6; ALK6; AMD3; AMDD; BDA1D; BDA2;
                     CDw293"
                     /coded_by="XM_017008558.2:340..1848"
                     /db_xref="GeneID:658"
                     /db_xref="HGNC:HGNC:1077"
                     /db_xref="MIM:603248"
ORIGIN      
        1 mllrsagkln vgtkkedges taptprpkvl rckchhhcpe dsvnnicstd gycftmieed
       61 dsglpvvtsg clglegsdfq crdtpiphqr rsiecctern ecnkdlhptl pplknrdfvd
      121 gpihhralli svtvcslllv liilfcyfry krqetrprys igleqdetyi ppgeslrdli
      181 eqsqssgsgs glpllvqrti akqiqmvkqi gkgrygevwm gkwrgekvav kvfftteeas
      241 wfreteiyqt vlmrhenilg fiaadikgtg swtqlylitd yhengslydy lksttldaks
      301 mlklayssvs glchlhteif stqgkpaiah rdlksknilv kkngtcciad lglavkfisd
      361 tnevdippnt rvgtkrympp evldeslnrn hfqsyimadm ysfglilwev arrcvsggiv
      421 eeyqlpyhdl vpsdpsyedm reivcikklr psfpnrwssd eclrqmgklm tecwahnpas
      481 rltalrvkkt lakmsesqdi kl
//
LOCUS       XP_005248346             172 aa            linear   PRI 20-MAR-2023
DEFINITION  RAB7A-interacting MON1-CCZ1 complex subunit 1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_005248346
VERSION     XP_005248346.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005248289.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..172
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..172
                     /product="RAB7A-interacting MON1-CCZ1 complex subunit 1
                     isoform X3"
                     /calculated_mol_wt=19676
     Region          36..>172
                     /region_name="DUF5561"
                     /note="Family of unknown function (DUF5561); pfam17716"
                     /db_xref="CDD:407593"
     CDS             1..172
                     /gene="RIMOC1"
                     /gene_synonym="C5orf51"
                     /coded_by="XM_005248289.5:25..543"
                     /db_xref="GeneID:285636"
                     /db_xref="HGNC:HGNC:27750"
                     /db_xref="MIM:620266"
ORIGIN      
        1 maaavssvvr rveelgdlaq ahiqqlseaa geddhflira saaleklkll cgeekecsnp
       61 snllelytqa ildmtyfeen klvdedfped sssqkvkeli sflsepeilv kennmhpkhc
      121 nllgdellec lswrrgally mychsltkrr ewllrkssll kkeylvtfic wl
//
LOCUS       XP_047273234             453 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-1,3-galactosyl-O-glycosyl-glycoprotein
            beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047273234
VERSION     XP_047273234.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417278.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..453
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..453
                     /product="beta-1,3-galactosyl-O-glycosyl-glycoprotein
                     beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1"
                     /calculated_mol_wt=52921
     Region          133..402
                     /region_name="Branch"
                     /note="Core-2/I-Branching enzyme; cl27418"
                     /db_xref="CDD:452742"
     CDS             1..453
                     /gene="GCNT4"
                     /gene_synonym="C2GNT3; LINC01336"
                     /coded_by="XM_047417278.1:548..1909"
                     /db_xref="GeneID:51301"
                     /db_xref="HGNC:HGNC:17973"
                     /db_xref="MIM:616782"
ORIGIN      
        1 mkifkcyfkh tlqqkvfilf ltlwllsllk llnvrrlfpq kdiylveysl stspfvrnry
       61 thvkdevrye vncsgiyeqe pleigkslei rrrdiidled ddvvamtsdc diyqtlrgya
      121 qklvskeeks fpiayslvvh kdaimverli haiynqhniy cihydrkapd tfkvamnnla
      181 kcfsnifias kleaveyahi srlqadlncl sdllkssiqw kyvinlcgqd fplksnfelv
      241 selkklngan mletvkppns klerftyhhe lrrvpyeyvk lpirtniske apphniqifv
      301 gsayfvlsqa fvkyifnnsi vqdffawskd tyspdehfwa tlirvpgipg eisrsaqdvs
      361 dlqsktrlvk wnyyegffyp sctgshlrsv ciygaaelrw likdghwfan kfdskvdpil
      421 ikclaeklee qqrdwitlps eklfmdrnlt tts
//
LOCUS       XP_047273727             338 aa            linear   PRI 20-MAR-2023
DEFINITION  docking protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_047273727
VERSION     XP_047273727.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417771.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..338
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..338
                     /product="docking protein 3 isoform X1"
                     /calculated_mol_wt=36473
     Region          55..153
                     /region_name="PTB_DOK1_DOK2_DOK3"
                     /note="Downstream of tyrosine kinase 1, 2, and 3 proteins
                     phosphotyrosine-binding domain (PTBi); cd01203"
                     /db_xref="CDD:269914"
     Site            order(65,71)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269914"
     Site            order(103..111,117,121..122,142,149,152)
                     /site_type="other"
                     /note="phosphopeptide binding site [polypeptide binding]"
                     /db_xref="CDD:269914"
     CDS             1..338
                     /gene="DOK3"
                     /gene_synonym="DOKL"
                     /coded_by="XM_047417771.1:143..1159"
                     /db_xref="GeneID:79930"
                     /db_xref="HGNC:HGNC:24583"
                     /db_xref="MIM:611435"
ORIGIN      
        1 mdpletpikd gilyqqhvkf gkgtgeassg stdaqspkrg lvpmeensiy sswqevgefp
       61 vvvqrteaat rcqlkgpall vlgpdaiqlr eakgtqalys wpyhflrkfg sdkgvfsfea
      121 grrchsgegl fafstpcapd lcravagaia rqrerlpelt rpqpcplpra tslpsldtpg
      181 elremppgpe pptsrkmhla epgpqslpll lgpepndlas glyasvckra sgppgnehly
      241 enlcvleasp tlhggepeph egpgsrsptt spiyhngqdl swpgpandst leaqyrrlle
      301 ldqvegtgrp dpqagfkakl vtllsrerrk gpapcdrp
//
LOCUS       XP_047274331             557 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatase and actin regulator 1 isoform X5 [Homo sapiens].
ACCESSION   XP_047274331
VERSION     XP_047274331.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418375.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..557
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..557
                     /product="phosphatase and actin regulator 1 isoform X5"
                     /calculated_mol_wt=62993
     Region          48..69
                     /region_name="RPEL"
                     /note="RPEL repeat; pfam02755"
                     /db_xref="CDD:426961"
     Region          399..423
                     /region_name="RPEL"
                     /note="RPEL repeat; cl29414"
                     /db_xref="CDD:452986"
     Region          438..462
                     /region_name="RPEL"
                     /note="Repeat in Drosophila CG10860, human KIAA0680 and C.
                     elegans F26H9.2; smart00707"
                     /db_xref="CDD:128947"
     Region          475..500
                     /region_name="RPEL"
                     /note="Repeat in Drosophila CG10860, human KIAA0680 and C.
                     elegans F26H9.2; smart00707"
                     /db_xref="CDD:128947"
     CDS             1..557
                     /gene="PHACTR1"
                     /gene_synonym="DEE70; dJ257A7.2; EIEE70; RPEL; RPEL1"
                     /coded_by="XM_047418375.1:119..1792"
                     /db_xref="GeneID:221692"
                     /db_xref="HGNC:HGNC:20990"
                     /db_xref="MIM:608723"
ORIGIN      
        1 mrsdslvpgt htppirrrsk fanlgrifkp wkwrkkksek fkhtsaaler kismrqsree
       61 likrgvlkei ydkdgelsis needslengq slsssqlslp alsemepvpm prdpcsyevl
      121 qpsdimdgpv seespsases gvllsqdpsa kpvlllppkk paafpgdhee tpvkqlpllk
      181 qppalppkpt trianhltdp gapvklpclp vklspplppk kvmicmpvgg pdlslvsyta
      241 qksgqqgvaq hhhtvlpsqi qhqlqygshg qhlpsttgsl pmhpsgcrmi delnktlamt
      301 mqrlesseqr vpcstsyhss glhsgdgvtk agpmglpeir qvptvviecd dnkenvphes
      361 dyedssclyt reeeeeeede dddsslytss lamkvcrkds laiklsnrps kreleeknil
      421 prqtdeerle lrqqigtklt rrlsqrptae eleqrnilkp rneqeeqeek reikrrltrk
      481 lsqrptveel rerkilirfs dyvevadaqd ydrradkpwt rltaadkaai rkelnefkst
      541 emevhelsrh ltrfhrp
//
LOCUS       XP_047274424             442 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-dependent kinase 19 isoform X2 [Homo sapiens].
ACCESSION   XP_047274424
VERSION     XP_047274424.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418468.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..442
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..442
                     /product="cyclin-dependent kinase 19 isoform X2"
                     /calculated_mol_wt=49740
     Region          1..275
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..442
                     /gene="CDK19"
                     /gene_synonym="bA346C16.3; CDC2L6; CDK11; DEE87; EIEE87"
                     /coded_by="XM_047418468.1:6295..7623"
                     /db_xref="GeneID:23097"
                     /db_xref="HGNC:HGNC:19338"
                     /db_xref="MIM:614720"
ORIGIN      
        1 msacreiall relkhpnvia lqkvflshsd rkvwllfdya ehdlwhiikf hraskankkp
       61 mqlprsmvks llyqildgih ylhanwvlhr dlkpanilvm gegpergrvk iadmgfarlf
      121 nsplkpladl dpvvvtfwyr apelllgarh ytkaidiwai gcifaellts epifhcrqed
      181 iktsnpfhhd qldrifsvmg fpadkdwedi rkmpeyptlq kdfrrttyan sslikymekh
      241 kvkpdskvfl llqklltmdp tkritseqal qdpyfqedpl ptldvfagcq ipypkrefln
      301 eddpeekgdk nqqqqqnqhq qptappqqaa appqapppqq nstqtngtag gagagvggtg
      361 aglqhsqdss lnqvppnkkp rlgpsgansg gpvmpsdyqh sssrlnyqss vqgssqsqst
      421 lgyssssqqs sqyhpshqah ry
//
LOCUS       XP_016867735            1205 aa            linear   PRI 20-MAR-2023
DEFINITION  neuronal cell adhesion molecule isoform X17 [Homo sapiens].
ACCESSION   XP_016867735
VERSION     XP_016867735.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017012246.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1205
                     /product="neuronal cell adhesion molecule isoform X17"
                     /calculated_mol_wt=133173
     Region          46..140
                     /region_name="IgI_NrCAM"
                     /note="Immunoglobulin (Ig)-like domain of NrCAM (Ng
                     (neuronglia) CAM-related cell adhesion molecule); member
                     of the I-set of Ig superfamily (IgSF) domains; cd05874"
                     /db_xref="CDD:409458"
     Region          46..50
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409458"
     Region          55..59
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409458"
     Region          64..71
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409458"
     Region          77..82
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409458"
     Region          85..87
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409458"
     Region          94..97
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409458"
     Region          102..106
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409458"
     Region          119..127
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409458"
     Region          130..140
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409458"
     Region          149..238
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          163..167
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          177..181
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          200..204
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          215..220
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          231..234
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          277..358
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          288..292
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          301..305
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          323..327
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          337..342
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          350..353
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          362..450
                     /region_name="Ig4_NrCAM"
                     /note="Fourth immunoglobulin (Ig)-like domain of NrCAM
                     (NgCAM-related cell adhesion molecule); cd05868"
                     /db_xref="CDD:409454"
     Region          378..382
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409454"
     Region          391..395
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409454"
     Region          415..419
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409454"
     Region          429..434
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409454"
     Region          442..445
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409454"
     Region          459..542
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          472..476
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          485..489
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          508..512
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          522..527
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          535..538
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          548..633
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          563..567
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          578..582
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          613..618
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          626..629
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          637..727
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(637,703,718)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(719..720,722..723)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          740..822
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          838..930
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(926..927,929..930)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            order(942,1010,1025)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          943..1027
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(1026..1027,1029..1030)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1088..1181
                     /region_name="Bravo_FIGEY"
                     /note="Bravo-like intracellular region; pfam13882"
                     /db_xref="CDD:433552"
     CDS             1..1205
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /coded_by="XM_017012246.3:526..4143"
                     /db_xref="GeneID:4897"
                     /db_xref="HGNC:HGNC:7994"
                     /db_xref="MIM:601581"
ORIGIN      
        1 mqlkimpkkk rlsagrvpli lflcqmisal evpldpklle dlvqpptitq qspkdyiidp
       61 reniviqcea kgkpppsfsw trngthfdid kdplvtmkpg tgtliinims egkaetyegv
      121 yqctarnerg aavsnnivvr psrsplwtke klepitlqsg qslvlpcrpp iglpppiifw
      181 mdnsfqrlpq servsqglng dlyfsnvlpe dtredyicya rfnhtqtiqq kqpisvkvis
      241 vdelndtiaa nlsdtefyga kssrerpptf ltpegnasnk eelrgnvlsl eciaeglptp
      301 iiywakedgm lpknrtvykn fektlqiihv seadsgnyqc iaknalgaih htisvrvkaa
      361 pywitapqnl vlspgedgtl icrangnpkp riswltngvp ieiapddpsr kidgdtiifs
      421 nvqerssavy qcnasneygy llanafvnvl aeppriltpa ntlyqvianr palldcaffg
      481 splptiewfk gakgsalhed iyvlhengtl eipvaqkdst gtytcvarnk lgmaknevhl
      541 eikdptwivk qpeyavvqrg smvsfeckvk hdhtlsltvl wlkdnrelps derftvdkdh
      601 lvvadvsddd sgtytcvant tldsvsasav lsvvdvpnpp fdleltdqld ksvqlswtpg
      661 ddnnspitkf iieyedamhk pglwhhqtev sgtqttaqlk lspyvnysfr vmavnsigks
      721 lpseaseqyl tkasepdknp taveglgsep dnlvitwkpl ngfesngpgl qykvswrqkd
      781 gddewtsvvv anvskyivsg tptfvpylik vqalndmgfa pepavvmghs gedlpmvapg
      841 nvrvnvvnst laevhwdpvp lksirghlqg yriyywktqs sskrnrrhie kkiltfqgsk
      901 thgmlpglep fshytlnvrv vngkgegpas pdrvfntpeg vpsapsslki vnptldsltl
      961 ewdppshpng ilteytlkyq pinsthelgp lvdlkipank trwtlknlnf strykfyfya
     1021 qtsagsgsqi teeavttvde agilppdvga gkamasrqvd iatqgwfigl mcavallili
     1081 llivcfirrn kggkypvkek edahadpeiq pmkeddgtfg eyrslesdae dhkplkkgsr
     1141 tpsdrtvkke dsddslvdyg egvngqfned gsfigqysgk kekepaegne sseapspvna
     1201 mnsfv
//
LOCUS       XP_011515239            1035 aa            linear   PRI 20-MAR-2023
DEFINITION  DENN domain-containing protein 3 isoform X16 [Homo sapiens].
ACCESSION   XP_011515239
VERSION     XP_011515239.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011516937.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Mar 26, 2018 this sequence version replaced XP_011515239.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1035
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1035
                     /product="DENN domain-containing protein 3 isoform X16"
                     /calculated_mol_wt=117171
     Region          108..158
                     /region_name="uDENN"
                     /note="uDENN domain; cl04085"
                     /db_xref="CDD:446269"
     Region          185..371
                     /region_name="DENN"
                     /note="DENN (AEX-3) domain; pfam02141"
                     /db_xref="CDD:426618"
     Region          435..497
                     /region_name="dDENN"
                     /note="Domain always found downstream of DENN domain,
                     found in a variety of signalling proteins; smart00801"
                     /db_xref="CDD:129037"
     CDS             1..1035
                     /gene="DENND3"
                     /coded_by="XM_011516937.3:120..3227"
                     /db_xref="GeneID:22898"
                     /db_xref="HGNC:HGNC:29134"
                     /db_xref="MIM:617503"
ORIGIN      
        1 maeaasphls lpsgllelca llgaprdslr sleqvaykkg vkhlsalldp evlsifvppf
       61 iskedsqmag ancgtlgktr mrslrkkrek prpeqwkglp gpprapeped vavpggvdll
      121 tlpqlcfpgg vcvatepked cvhflvltdv cgnrtygvva qyyrplhdey cfyngkthre
      181 cpgcfvpfav cvvsrfpyyn slkdclscll allkpckdfe vdshikdfaa klslipsppp
      241 gplhlvfnmk slqivlpara dpespildld lhlpllcfrp ekvlqiltci lteqrivffs
      301 sdwalltlvt ecfmaylypl qwqhpfvpil sdqmldfvma ptsflmgchl dhfeevskea
      361 dglvlinidh gsityskstd dnvdipdvpl laaqtfiqrv qslqlhhelh aahllsstdl
      421 kegrahrrsw qqklncqiqq ttlqllvsif rdvknhlnye hrvfnseefl ktrapgdhqf
      481 ykqvldtymf hsflkarlnr rmdafaqmdl dtqseedrin gmllsprrpt vekrasrkss
      541 hlhvthrrmv vsmpnlqdia mpelaprnss lrltdtagcr gssavlnvtp kspytfkipe
      601 ihfpleskcv qayhahfvsm lseamcflap dnslllaryl ylrglvylmq gqllnalldf
      661 qnlyktdiri fptdlvkrtv esmsapeweg aeqapelmrl iseildkphe asklddhvkk
      721 fklpkkhmql gdfmkrvqes givkdasiih rlfealtvgq ekqidpetfk dfyncwkete
      781 aeaqevslpw lvmehldkne cvcklsssvk tnlgvgkiam tqkrlfllte grpgyleist
      841 frnieevrrt tttfllrrip tlkirvaskk evfeanlkte cdlwhlmvke mwagkkladd
      901 hkdphyvqqa ltnvllmdav vgtlqspgai yaasklsyfd kmsnempmtl pettletlkh
      961 kinpsageaf pqavdvllyt pghldpaekv edahpklwca lsegkvtvfn asswtihqhs
     1021 fkvgtakvil vvfsw
//
LOCUS       XP_016870900             323 aa            linear   PRI 20-MAR-2023
DEFINITION  proline rich transmembrane protein 1B isoform X1 [Homo sapiens].
ACCESSION   XP_016870900
VERSION     XP_016870900.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017015411.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..323
                     /product="proline rich transmembrane protein 1B isoform
                     X1"
                     /calculated_mol_wt=33277
     Region          <37..217
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          215..>244
                     /region_name="CD225"
                     /note="Interferon-induced transmembrane protein;
                     pfam04505"
                     /db_xref="CDD:427986"
     CDS             1..323
                     /gene="PRRT1B"
                     /gene_synonym="DSPD2; IFITMD8"
                     /coded_by="XM_017015411.3:90..1061"
                     /db_xref="GeneID:642515"
                     /db_xref="HGNC:HGNC:53642"
ORIGIN      
        1 mrpscrglga wfvgtagpat shlarrplah drchfflgsd tkgggspatp edprspakpa
       61 apedpqmpaq palpqlprrp rtldedgaps edgaaggsep apedapaqaa geagpvskaa
      121 aggaphigfv gepppyappd pkaapllypp fpqvpvvlqp apsalfpppa qlypaaptpp
      181 alfsppagaa fpfpvyngpm agvpgpatve hrplpkdymm esvlvtlfcc lltgliaivy
      241 shevgagaal gtaspstqpl apqwvhrapl patrslvslp legggnwevr aqlfvgslll
      301 lslpptiqnv lwnvwpkqft vkl
//
LOCUS       XP_047279692             556 aa            linear   PRI 20-MAR-2023
DEFINITION  probable ATP-dependent RNA helicase DDX31 isoform X6 [Homo
            sapiens].
ACCESSION   XP_047279692
VERSION     XP_047279692.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423736.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..556
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..556
                     /product="probable ATP-dependent RNA helicase DDX31
                     isoform X6"
                     /calculated_mol_wt=61678
     Region          136..339
                     /region_name="DEADc_DDX31"
                     /note="DEAD-box helicase domain of DEAD box protein 31;
                     cd17949"
                     /db_xref="CDD:350707"
     Site            order(145..146,148..150,153,171..178)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350707"
     Region          376..>497
                     /region_name="SF2_C_DEAD"
                     /note="C-terminal helicase domain of the DEAD box
                     helicases; cd18787"
                     /db_xref="CDD:350174"
     CDS             1..556
                     /gene="DDX31"
                     /gene_synonym="PPP1R25"
                     /coded_by="XM_047423736.1:50..1720"
                     /db_xref="GeneID:64794"
                     /db_xref="HGNC:HGNC:16715"
                     /db_xref="MIM:616533"
ORIGIN      
        1 maaadgslfd nprtfsrrpp aqasrqakat krkyqassea ppakrrnets flpakktsvk
       61 etqrtfkgna qkmfspkkhs vstsdrnqee rqciktsslf knnpdipelh rpvvkqvqek
      121 vftsaafhel glhphlisti ntvlkmssmt svqkqsipvl legrdalvrs qtgsgktlay
      181 cipvvqslqa meskiqrsdg pyalvlvptr elalqsfdtv qkllkpftwi vpgvlmggek
      241 rksekarlrk ginilistpg rlvdhikstk nihfsrlrwl vfdeadrild lgfekditvi
      301 lnavnaecqk rqnvllsatl tegvtrladi slhdpvsisv ldkshdqlnp kdkavqevcp
      361 ppagdkldsf aipeslkqhv tvvpsklrlv claafilqkc kfeedqkmvv ffsscelvef
      421 hyslflqtll sssgapasgq lpsasmrlkf lrlhggmeqe ertavfqefs hsrrgvllct
      481 dvaargldlp qvtwivqnts tgleeppgla amgaacsfwl lrrqnmstrw lltkskipcc
      541 wppgnprash sladgi
//
LOCUS       XP_005262313             378 aa            linear   PRI 20-MAR-2023
DEFINITION  C-X-C chemokine receptor type 3 isoform X2 [Homo sapiens].
ACCESSION   XP_005262313
VERSION     XP_005262313.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005262256.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..378
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..378
                     /product="C-X-C chemokine receptor type 3 isoform X2"
                     /calculated_mol_wt=41460
     Region          64..339
                     /region_name="7tmA_CXCR3"
                     /note="CXC chemokine receptor type 3, member of the class
                     A family of seven-transmembrane G protein-coupled
                     receptors; cd15180"
                     /db_xref="CDD:341335"
     Region          64..91
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:341335"
     Site            order(70,119,122,138,141..142,213..218,222,225..226,281,
                     288,291,303,307,310..311,314)
                     /site_type="other"
                     /note="putative chemokine binding site [polypeptide
                     binding]"
                     /db_xref="CDD:341335"
     Region          98..123
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:341335"
     Region          134..164
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:341335"
     Region          176..198
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:341335"
     Region          222..251
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:341335"
     Region          258..288
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:341335"
     Region          307..332
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:341335"
     CDS             1..378
                     /gene="CXCR3"
                     /gene_synonym="CD182; CD183; CKR-L2; CMKAR3; GPR9; IP10-R;
                     Mig-R; MigR"
                     /coded_by="XM_005262256.4:140..1276"
                     /db_xref="GeneID:2833"
                     /db_xref="HGNC:HGNC:4540"
                     /db_xref="MIM:300574"
ORIGIN      
        1 mpglahspgs pqgwvsdhqv lndaevaall enfsssydyg enesdsccts ppcpqdfsln
       61 fdraflpaly sllfllgllg ngavaavlls rrtalsstdt fllhlavadt llvltlplwa
      121 vdaavqwvfg sglckvagal fninfyagal llacisfdry lnivhatqly rrgpparvtl
      181 tclavwglcl lfalpdfifl sahhderlna thcqynfpqv grtalrvlql vagfllpllv
      241 maycyahila vllvsrgqrr lramrlvvvv vvafalcwtp yhlvvlvdil mdlgalarnc
      301 gresrvdvak svtsglgymh cclnpllyaf vgvkfrermw mlllrlgcpn qrglqrqpss
      361 srrdsswset seasysgl
//
LOCUS       XP_054188481            1156 aa            linear   PRI 20-MAR-2023
DEFINITION  BLOC-2 complex member HPS5 isoform X1 [Homo sapiens].
ACCESSION   XP_054188481
VERSION     XP_054188481.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332506.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_021160006.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1156
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     Protein         1..1156
                     /product="BLOC-2 complex member HPS5 isoform X1"
                     /calculated_mol_wt=130086
     CDS             1..1156
                     /gene="HPS5"
                     /gene_synonym="AIBP63; BLOC2S2"
                     /coded_by="XM_054332506.1:245..3715"
                     /db_xref="GeneID:11234"
                     /db_xref="HGNC:HGNC:17022"
                     /db_xref="MIM:607521"
ORIGIN      
        1 mafvpvipes yshvlaefes ldpllsalrl dssrlkctsi avsrkwlalg ssggglhliq
       61 kegwkhrlfl shregaisqv acclhdddyv avatsqglvv vwelnqerrg kpeqmyvsse
      121 hkgrrvtalc wdtailrvfv gdhagkvsai klntskqaka aaafvmfpvq tittvdscvv
      181 qldyldgrll issltrsflc dterekfwki gnkerdgeyg acffpgrcsg gqqpliycar
      241 pgsrmwevnf dgevisthqf kkllslpplp vitlrsepqy dhtagssqsl sfpkllhlse
      301 hcvltwterg iyifipqnvq vllwsevkdi qdvavcrnel fclhlngkvs hlslisverc
      361 verllrrglw nlaartcclf qnsviasrar ktltadkleh lksqldhgty ndlisqleel
      421 ilkfepldsa cssrrssiss hesfsildsg iyriissrrg sqsdedscsl hsqtlseder
      481 fkeftsqqee dlpdqccgsh gnednvshap vmfetdknet flpfgiplpf rspsplvslq
      541 avkesvssfv rkttekigtl htspdlkvrp elrgdeqsce edvssdtcpk eedteeekev
      601 tspppeedrf qelkvataea mtklqdplvl feseslrmvl qewlshlekt famkdfsgvs
      661 dtdnssmkln qdvllvnesk kgildednek ekrdslgnee svdktacecv rspreslddl
      721 fqicspcaia sglrndlael ttlclelnvl nskikstsgh vdhtlqqysp eilacqflkk
      781 yffllnlkra kesiklsysn spsvwdtfie glkemassnp vymemekgdl ptrlklldde
      841 vpfdspllvv yatrlyekfg esalrslikf fpsilpsdii qlchhhpaef layldslvks
      901 rpedqrssfl esllqpeslr ldwlllavsl dappststmd degyprphsh llswgysqli
      961 lhliklpadf itkekmtdic rscgfwpgyl ilclelerrr eaftnivyln dmslmegdng
     1021 wipetveewk lllhliqsks trpapqesln gslsdgpspi nvenvallla kamgpdraws
     1081 llqecglale lsekftrtcd ilriaekrqr hlncfhflai vnnaamnmsi qiclpdtafs
     1141 sfgyipesgi lesygp
//
LOCUS       XP_054193298             407 aa            linear   PRI 20-MAR-2023
DEFINITION  G patch domain-containing protein 2 isoform X6 [Homo sapiens].
ACCESSION   XP_054193298
VERSION     XP_054193298.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337323.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..407
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..407
                     /product="G patch domain-containing protein 2 isoform X6"
                     /calculated_mol_wt=45976
     CDS             1..407
                     /gene="GPATCH2"
                     /gene_synonym="CT110; GPATC2; Pfa1; PPP1R30"
                     /coded_by="XM_054337323.1:120..1343"
                     /db_xref="GeneID:55105"
                     /db_xref="HGNC:HGNC:25499"
                     /db_xref="MIM:616836"
ORIGIN      
        1 mfgaagrqpi gapaagnswh fsrtmeelvh dlvsaleess eqarggfaet gdhsrsiscp
       61 lkrqarkrrg rkrrsynvhh pwetghclse gsdssleeps kdyrenhnnn kkdhsdsddq
      121 mlvakrrpss nlnnnvrgkr plwhesdfav dnvgnrtlrr rrkvkrmavd lpqdisnkrt
      181 mtqppegcrd qdmdsdrayq yqeftknkvk krklkiirqg pkiqdegvvl eseetnqtnk
      241 dkmeceeqkv sdelmsesds sslsstdagl ftndegrqgd deqsdwfyek esggacgitg
      301 vvpwwekedp teldknvpdp vfesiltgsf plmshpsrrg fqarlsrlhg mssknikksg
      361 gtptsmvpip gpvgnkrmvh fspdshhhdh wfspgarteh dqvetka
//
LOCUS       XP_054193542             853 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C1orf112 isoform X1 [Homo sapiens].
ACCESSION   XP_054193542
VERSION     XP_054193542.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337567.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..853
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..853
                     /product="uncharacterized protein C1orf112 isoform X1"
                     /calculated_mol_wt=96424
     CDS             1..853
                     /gene="FIRRM"
                     /gene_synonym="Apolo1; C1orf112; FLIP; MEICA1"
                     /coded_by="XM_054337567.1:393..2954"
                     /db_xref="GeneID:55732"
                     /db_xref="HGNC:HGNC:25565"
ORIGIN      
        1 mflphmnhlt leqtffsqvl pktvklfddm myeltsqarg lssqnleiqt tlrnilqtmv
       61 qllgaltgcv qhicatqesi ileniqslps svlhiikstf vhcknsesvy sgclhlvsdl
      121 lqalfkeays lqkqlmelld mvcmdplvdd nddilnmviv ihslldicsv issmdhafha
      181 ntwkfiikqs lkhqsiiksq lkhkdiitsl cedilfsfhs clqlaeqmtq sdaqdnadyr
      241 lfqktlklcr ffansllhya keflpflsds cctlhqlylq ihskfppsly atriskahqe
      301 eiagaflvtl dplisqlltf qpfmqvvlds kldlpcelqf pqclllvvvm dklpsqpkev
      361 qtlwctdsqv setttrisll kavfysfeqc sgelslpvhl qglkskgkae vavtlyqhvc
      421 vhlctfitsf hpslfaelda allnavlsan mitsllamda wcflarygta elcahhvtiv
      481 ahlikscpge cyqlinlsil lkrlfffmap phqlefiqkf spkeaenlpl wqhisfqalp
      541 pelreqtvhe vttvgtaecr kwlsrsrtlg eleslntvls allavcnsag ealdtgkqta
      601 iievvsqlwa flnikqvadq pyvqqtfsll lpllgffiqt ldpklilqav tlqtsllkle
      661 lpdyvrlaml dfvsslgklf ipeaiqdril pnlscmfall ladrswlleq htleaftqfa
      721 egtnheeivp qclsseetkn kvvsflektg fvdeteaakv ervkqekgif wepfanvtve
      781 eakrsslqpy akrarqefpw eeeyrsalht iagaleates llqkgpapaw lsmemealqe
      841 rmdklkryih tlg
//
LOCUS       XP_054193841            1573 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor B2 isoform X3 [Homo sapiens].
ACCESSION   XP_054193841
VERSION     XP_054193841.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337866.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1573
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1573
                     /product="adhesion G protein-coupled receptor B2 isoform
                     X3"
                     /calculated_mol_wt=171140
     CDS             1..1573
                     /gene="ADGRB2"
                     /gene_synonym="BAI2"
                     /coded_by="XM_054337866.1:454..5175"
                     /db_xref="GeneID:576"
                     /db_xref="HGNC:HGNC:944"
                     /db_xref="MIM:602683"
ORIGIN      
        1 mtpacpllls vilslrlata fdpapsacsa lasgvlygaf slqdlfptia sgcswtlenp
       61 dptkyslylr fnrqeqvcah faprllpldh ylvnftclrp speeavaqae sevgrpeeee
      121 aeaaaglelc sgsgpftflh fdknfvqlcl saepseaprl lapaalafrf vevllinnnn
      181 ssqftcgvlc rwseecgraa gracgfaqpg cscpgeagag sttttspgpp aahtlsnalv
      241 pggpappaea dlhsgssndl fttemrygee peeepkvktq wprsadepgl ymaqtgdpaa
      301 eewspwsvcs ltcgqglqvr trscvsspyg tlcsgplret rpcnnsatcp vhgvweewgs
      361 wslcsrscgr gsrsrmrtcv ppqhggkace gpelqtklcs maacpvegqw lewgpwgpcs
      421 tscangtqqr srkcsvagpa watctgaltd trecsnlecp atdskwgpwn awslcsktcd
      481 tgwqrrfrmc qatgtqgypc egtgeevkpc sekrcpafhe mcrdeyvmlm twkkaaagei
      541 iynkcppnas gsasrrclls aqgvaywglp sfarcishey rylylslreh lakgqrmlag
      601 egmsqvvrsl qellarrtyy sgdllfsvdi lrnvtdtfkr atyvpsaddv qrffqvvsfm
      661 vdaenkekwd daqqvspgsv hllrvvedfi hlvgdalkaf qsslivtdnl visiqrepvs
      721 avssditfpm rgrrgmkdwv rhsedrlflp kevlslsspg kpatsgaags pgrgrgpgtv
      781 ppgpghshqr llpadpdess yfvigavlyr tlglilpppr pplavtsrvm tvtvrpptqp
      841 paeplitvel syiingttdp hcaswdysra dassgdwdte ncqtletqaa htrcqcqhls
      901 tfavlaqppk dltlelagsp svplvigcav scmalltlla iyaafwrfik sersiillnf
      961 clsilasnil ilvgqsrvls kgvctmtaaf lhffflssfc wvlteawqsy lavigrmrtr
     1021 lvrkrflclg wglpalvvav svgftrtkgy gtssycwlsl eggllyafvg paavivlvnm
     1081 ligiivfnkl mardgisdks kkqragserc pwaslllpcs acgavpspll ssasarnama
     1141 slwsscvvlp llaltwmsav lamtdrrsvl fqalfavfns aqgfvitavh cflrrevqdv
     1201 vkcqmgvcra desedspdsc kngqlqilsd fekdvdlacq tvlfkevntc npstitgtls
     1261 rlsldedeep ksclvgpegs lsfsplpgni lvpmaaspgl geppppqean pvymcgeggl
     1321 rqldltwlrp tepgsegdym vlprrtlslq pggggggged aprarpegtp rraaktvaht
     1381 egypsflsvd hsglglgpay gslqnpygmt fqpppptpsa rqvpepgers rtmprtvpgs
     1441 tmkmgslerk klrysdldfe kvmhtrkrhs elyhelnqkf htfdryrsqs takrekrwsv
     1501 ssggaaersv ctdkpspger pslsqhrrhq swstfksmtl gslppkprer ltlhraaawe
     1561 pteppdgdfq tev
//
LOCUS       XP_054193899             354 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein phosphatase non-receptor type 7 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054193899
VERSION     XP_054193899.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337924.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..354
                     /product="tyrosine-protein phosphatase non-receptor type 7
                     isoform X3"
                     /calculated_mol_wt=39927
     CDS             1..354
                     /gene="PTPN7"
                     /gene_synonym="BPTP-4; HEPTP; LC-PTP; LPTP; PTPNI"
                     /coded_by="XM_054337924.1:171..1235"
                     /db_xref="GeneID:5778"
                     /db_xref="HGNC:HGNC:9659"
                     /db_xref="MIM:176889"
ORIGIN      
        1 mgvpwcegqr lstvsmtqpp pektpakkhv rlqerrgsnv almldvrslg avepicsvnt
       61 prevtlhflr taghpltrwa lqrqppspkq leeeflkips nfvspedldi pghaskdryk
      121 tilpnpqsrv clgraqsqed gdyinanyir gydgkekvyi atqgpmpntv sdfwemvwqe
      181 evslivmltq lregkekcvh ywpteeetyg pfqiriqdmk ecpeytvrql tiqyqeerrs
      241 vkhilfsawp dhqtpesagp llrlvaevee spetaahpgp ivvhcsagig rtgcfiatri
      301 gcqqlkarge vdilgivcql rldrggmiqt aeqyqflhht lalyagqlpe epsp
//
LOCUS       XP_054194981            5518 aa            linear   PRI 20-MAR-2023
DEFINITION  hemicentin-1 isoform X1 [Homo sapiens].
ACCESSION   XP_054194981
VERSION     XP_054194981.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339006.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5518
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..5518
                     /product="hemicentin-1 isoform X1"
                     /calculated_mol_wt=599855
     CDS             1..5518
                     /gene="HMCN1"
                     /gene_synonym="ARMD1; FBLN6; FIBL-6; FIBL6"
                     /coded_by="XM_054339006.1:390..16946"
                     /db_xref="GeneID:83872"
                     /db_xref="HGNC:HGNC:19194"
                     /db_xref="MIM:608548"
ORIGIN      
        1 miswevvhtv flfallyssl aqdaspqsei raeeipegas tlafvfdvtg smyddlvqvi
       61 egaskilets lkrpkrplfn falvpfhdpe igpvtittdp kkfqyelrel yvqgggdcpe
      121 msigaikial eislpgsfiy vftdarskdy rlthevlqli qqkqsqvvfv ltgdcddrth
      181 igykvyeeia stssgqvfhl dkkqvnevlk wveeavqask vhllstdhle qavntwripf
      241 dpslkevtvs lsgpspmiei rnplgklikk gfglhellni hnsakvvnvk epeagmwtvk
      301 tsssgrhsvr itglstidfr agfsrkptld fkktvsrpvq giptyvllnt sgistparid
      361 llellsisgs slktipvkyy phrkpygiwn isdfvppnea fflkvtgydk ddylfqrvss
      421 vsfssivpda pkvtmpektp gyylqpgqip csvdsllpft lsfvrngvtl gvdqylkesa
      481 svnldiakvt lsdegfyeci avssagtgra qtffdvsepp pviqvpnnvt vtpgeravlt
      541 cliisavdyn ltwqrndrdv rlaeparirt lanlslelks vkfndageyh cmvsseggss
      601 aasvfltvqe ppkvtvmpkn qsftggsevs imcsatgypk pkiawtvndm fivgshryrm
      661 tsdgtlfikn aapkdagiyg clasnsagtd kqnstlryie apklmvvqse llvalgditv
      721 mecktsgipp pqvkwfkgdl elrpstflii dpllgllkiq etqdldagdy tcvaineagr
      781 atgkitldvg sppvfiqepa dvsmeigsnv tlpcyvqgyp eptikwrrld nmpifsrpfs
      841 vssisqlrtg alfilnlwas dkgtyiceae nqfgkiqset tvtvtglvap ligispsvan
      901 viegqqltlp ctllagnpip errwiknsam llqnpyitvr sdgslhierv qlqdggeytc
      961 vasnvagtnn kttsvvvhvl ptiqhgqqil stiegipvtl pckasgnpkp sviwskkgel
     1021 istssakfsa gadgslyvvs pggeesgeyv ctatnaagya krkvqltvyv rprvfgdqrg
     1081 lsqdkpveis vlageevtlp cevkslpppi itwaketqli spfsprhtfl psgsmkitet
     1141 rtsdsgmylc vatniagnvt qavklnvhvp pkiqrgpkhl kvqvgqrvdi pcnaqgtplp
     1201 vitwskggst mlvdgehhvs npdgtlsidq atpsdagiyt cvatniagtd eteitlhvqe
     1261 pptvedlepp ynttfqerva nqriefpcpa kgtpkptikw lhngreltgr epgisiledg
     1321 tllviasvtp ydngeyicva vneagtterk ynlkvhvppv ikdkeqvtnv svllnqltnl
     1381 fcevegtpsp iimwykdnvq vtesstiqtv nngkilklfr atpedagrys ckainiagts
     1441 qkyfnidvlv pptiigtnfp nevsvvlnrd valecqvkgt pfpdihwfkd gkplflgdpn
     1501 velldrgqvl hlknarrndk gryqctvsna agkqakdikl tiyippsikg gnvttdisvl
     1561 insliklece trglpmpait wykdgqpims ssqalyidkg qylhipraqv sdsatytchv
     1621 anvagtaeks fhvdvyvppm iegnlatpln kqvviahslt leckaagnps piltwlkdgv
     1681 pvkandniri eaggkkleim saqeidrgqy icvatsvage keikyevdvl vppaieggde
     1741 tsyfivmvnn lleldchvtg sppptimwlk dgqliderdg fkillngrkl viaqaqvsnt
     1801 glyrcmaant agdhkkefev tvhvpptiks sglservvvk ykpvalqcia ngipnpsitw
     1861 lkddqpvnta qgnlkiqssg rvlqiaktll edagrytcva tnaagetqqh iqlhvhepps
     1921 ledagkmlne tvlvsnpvql eckaagnpvp vitwykdnrl lsgstsmtfl nrgqiidies
     1981 aqisdagiyk cvainsagat elfyslqvhv apsisgsnnm vavvvnnpvr leceargipa
     2041 psltwlkdgs pvssfsnglq vlsggrilal tsaqisdtgr ytcvavnaag ekqrdidlrv
     2101 yvppnimgee qnvsvlisqa vellcqsdai ppptltwlkd ghpllkkpgl sisenrsvlk
     2161 iedaqvqdtg rytceatnva gkteknynvn iwvppniggs deltqltvie gnlisllces
     2221 sgipppnliw kkkgspvltd smgrvrilsg grqlqisiae ksdaalyscv asnvagtakk
     2281 eynlqvyirp titnsgshpt eiivtrgksi slecevqgip pptvtwmkdg hplikakgve
     2341 ildeghilql knihvsdtgr yvcvavnvag mtdkkydlsv happsiignh rspenisvve
     2401 knsvsltcea sgiplpsttw fkdgwpvsls nsvrilsggr mlrlmqttme dagqytcvvr
     2461 naageerkif glsvlvpphi vgentledvk vkekqsvtlt cevtgnpvpe itwhkdgqpl
     2521 qedeahhiis ggrflqitnv qvphtgrytc lasspaghks rsfslnvfvs ptiagvgsdg
     2581 npedvtviln sptslvceay syppatitwf kdgtplesnr nirilpggrt lqilnaqedn
     2641 agryscvatn eagemikhye vkvyippiin kgdlwgpgls pkevkikvnn tltleceaya
     2701 ipsaslswyk dgqplksddh vniaanghtl qikeaqisdt grytcvasni agedeldfdv
     2761 niqvppsfqk lweignmldt grngeakdvi innpislyce tnaappptlt wykdghplts
     2821 sdkvlilpgg rvlqiprakv edagrytcva vneagedslq ydvrvlvppi ikgansdlpe
     2881 evtvlvnksa ligclssgsp aprnswqkdg qplleddhhk flsngrilqi lntqitdigr
     2941 yvcvaentag sakkyfnlnv hvppsvigpk senltvvvnn fisltcevsg fpppdlswlk
     3001 neqpiklntn tlivpggrtl qiirakvsdg geytciainq ageskkkfsl tvyvppsikd
     3061 hdseslsvvn vregtsvsle cesnavpppv itwykngrmi testhveila dgqmlhikka
     3121 evsdtgqyvc rainvagrdd knfhlnvyvp psiegperev ivetisnpvt ltcdatgipp
     3181 ptiawlknhk riensdslev rilsggsklq iarsqhsdsg nytciasnme gkaqkyyfls
     3241 iqvppsvaga eipsdvsvll genvelvcna ngiptpliqw lkdgkpiasg eterirvsan
     3301 gstlniygal tsdtgkytcv atnpageedr ifnlnvyvtp tirgnkdeae klmtlvdtsi
     3361 niecratgtp ppqinwlkng lplplsshir llaagqviri vraqvsdvav ytcvasnrag
     3421 vdnkhynlqv fappnmdnsm gteeitvlkg sstsmacitd gtpapsmawl rdgqplglda
     3481 hltvsthgmv lqllkaeted sgkytciasn eagevskhfi lkvlepphin gseeheeisv
     3541 ivnnpleltc iasgipapkm twmkdgrplp qtdqvqtlgg gevlristaq vedtgrytcl
     3601 asspagdddk eylvrvhvpp niagtdeprd itvlrnrqvt lecksdavpp pvitwlrnge
     3661 rlqatprvri lsggrylqin nadlgdtany tcvasniagk ttrefiltvn vppnikggpq
     3721 slvillnkst vleciaegvp tpritwrkdg avlagnhary silengflhi qsahvtdtgr
     3781 ylcmatnaag tdrrridlqv hvppsiapgp tnmtvivnvq ttlaceatgi pkpsinwrkn
     3841 ghllnvdqnq nsyrllssgs lviispsvdd tatyectvtn gagddkrtvd ltvqvppsia
     3901 deptdflvtk hapavitcta sgvpfpsihw tkngirllpr gdgyrilssg aieilatqln
     3961 hagrytcvar naagsahrhv tlhvheppvi qpqpselhvi lnnpillpce atgtpspfit
     4021 wqkeginvnt sgrnhavlps gglqisravr edagtymcva qnpagtalgk iklnvqvppv
     4081 isphlkeyvi avdkpitlsc eadglpppdi twhkdgraiv esirqrvlss gslqiafvqp
     4141 gdaghytcma anvagsssts tkltvhvppr irsteghytv nensqailpc vadgiptpai
     4201 nwkkdnvlla nllgkytaep ygelilenvv ledsgfytcv annaagedth tvsltvhvlp
     4261 tftelpgdvs lnkgeqlrls ckatgiplpk ltwtfnnnii pahfdsvngh selviervsk
     4321 edsgtyvcta ensvgfvkai gfvyvkeppv fkgdypsnwi eplggnailn cevkgdptpt
     4381 iqwnrkgvdi eishrirqlg ngslaiygtv nedagdytcv atneagvver smsltlqspp
     4441 iitlepvetv inaggkiiln cqatgepqpt itwsrqghsi swddrvnvls nnslyiadaq
     4501 kedtsefecv arnlmgsvlv rvpvivqvhg gfsqwsawra csvtcgkgiq krsrlcnqpl
     4561 panggkpcqg sdlemrncqn kpcpvdgsws ewslweectr scgrgnqtrt rtcnnpsvqh
     4621 ggrpcegnav eiimcnirpc pvhgawsawq pwgtcsescg kgtqtrarlc nnpppafggs
     4681 ycdgaetqmq vcnerncpih gkwatwasws acsvscggga rqrtrgcsdp vpqyggrkce
     4741 gsdvqsdfcn sdpcpthgnw spwsgwgtcs rtcnggqmrr yrtcdnppps nggracggpd
     4801 sqiqrcntdm cpvdgswgsw hswsqcsasc gggektrkrl cdhpvpvkgg rpcpgdttqv
     4861 trcnvqacpg gpqrargsvi gnindvefgi aflnatitds pnsdtriira kitnvprslg
     4921 samrkivsil npiywttake igeavngftl tnavfkretq vefatgeilq mshiarglds
     4981 dgsllldivv sgyvlqlqsp aevtvkdyte dyiqtgpgql yaystrlfti dgisipytwn
     5041 htvfydqaqg rmpflvetlh assvesdynq ieetlgfkih asiskgdrsn qcpsgftlds
     5101 vgpfcadede caagnpcshs chnamgtyyc scpkgltiaa dgrtcqdide calgrhtcha
     5161 gqdcdntigs yrcvvrcgsg frrtsdglsc qdinecqess pchqrcfnai gsfhcgcepg
     5221 yqlkgrkcmd vnecrqnvcr pdqhckntrg gykcidlcpn gmtkaengtc idideckdgt
     5281 hqcrynqice ntrgsyrcvc prgyrsqgvg rpcmdidece ntdacqheck ntfgsyqcic
     5341 ppgyqlthng ktcqdidecl eqnvhcgpnr mcfnmrgsyq cidtpcppny qrdpvsgfcl
     5401 kncppndlec alspyaleyk lvslpfgiat nqdlirlvay tqdgvmhprt tflmvdeeqt
     5461 vpfalrdenl kgvvyttrpl reaetyrmrv rassysangt ieyqttfivy iavsaypy
//
LOCUS       XP_054195492             801 aa            linear   PRI 20-MAR-2023
DEFINITION  mitogen-activated protein kinase kinase kinase 6 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054195492
VERSION     XP_054195492.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339517.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..801
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..801
                     /product="mitogen-activated protein kinase kinase kinase 6
                     isoform X4"
                     /calculated_mol_wt=88957
     CDS             1..801
                     /gene="MAP3K6"
                     /gene_synonym="ASK2; MAPKKK6; MEKK6"
                     /coded_by="XM_054339517.1:365..2770"
                     /db_xref="GeneID:9064"
                     /db_xref="HGNC:HGNC:6858"
                     /db_xref="MIM:604468"
ORIGIN      
        1 magpcprsga eragscwqdp lavalsrgrq laappgrgca rsrplsvvyv ltrepqpgle
       61 pregteaepl plrclreaca qvprprpppq lrslpfgtle lgdtaaldaf ynadvvvlev
      121 ssslvqpslf yhlgvresfs mtnnvllcsq adlpdlqalr edvfqknsdc vgsytlipyv
      181 vtatgrvlcg dagllrglad glvqagvgte alltplvgrl arlleatptd scgyfretir
      241 rdirqarerf sgpqlrqela rlqrrldsve llspdiimnl llsyrdvqdy saiielvetl
      301 qalptcdvae qhnvcfhytf alnrrnrpgd rakalsvllp lvqlegsvap dlycmcgriy
      361 kdmffssgfq daghreqayh wyrkafdvep slhsginaav lliaagqhfe dskelrligm
      421 klgcllarkg cvekmqyywd vgfylgaqil andpiqvvla aeqlyklnap iwylvsvmet
      481 fllyqhfrpt peppggpprr ahfwlhfllq scqpfktaca qgdqclvlvl emnkvllpak
      541 levrgtdpvs tvtlsllepe tqdipsswtf pvasicgvsa skrderccfl yalppaqdvq
      601 lcfpsvghcq wfcgliqawv tnpdstapae eaegagemle fdyeytetge rlvlgkgtyg
      661 vvyagrdrht rvriaikeip erdsrfsqpl heeialhrrl rhknivrylg sasqggylki
      721 fmeevpggsl ssllrsvwgp lkdnestisf ytrqilqglg ylhdnhivhr dikgprpvst
      781 ngcqsggqca dqhlqwaaqd f
//
LOCUS       XP_054221022             828 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 438 isoform X2 [Homo sapiens].
ACCESSION   XP_054221022
VERSION     XP_054221022.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365047.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..828
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..828
                     /product="zinc finger protein 438 isoform X2"
                     /calculated_mol_wt=91696
     CDS             1..828
                     /gene="ZNF438"
                     /gene_synonym="bA330O11.1"
                     /coded_by="XM_054365047.1:522..3008"
                     /db_xref="GeneID:220929"
                     /db_xref="HGNC:HGNC:21029"
ORIGIN      
        1 mqnsvsvppk degesnipsg tiqsrkglqn ksqfrtiapk ivpkvltsrm lpchspsrsd
       61 qvnlgpsins kllgmstqny almqvagqeg tfslvalphv asaqpiqkpr mslpenlklp
      121 ipryqpprns kasrkkpili fpksgcskap aqtqmcpqms pspphhpell yksspfeevp
      181 sleqapasis taaltngsdh gdlrppvtnt hgslnppatp asstpeepak qdltalsgka
      241 hfvskitssk psavasekfk eqvdlaktmt nlsptilgna vqlissvpkg klpippysrm
      301 ktmevykiks daniagfslp gpkadcdkip sttegfnaat kvasrlpvpq vsqqsacesa
      361 fcpptkldln hktklnsgaa krkgrkrkvp deilafqgkr rkyiinkcrd gkervkndpq
      421 efrdqklgtl kkyrsimpkp imviptlasl aspttlqsqm lgglgqdvll nnsltpkylg
      481 ckqdnssspk pssvfrngfs gikkpwhrch vcnhhfqfkq hlrdhmntht nrrpyscric
      541 rksyvrpgsl sthmklhhge nrlkklmcce fcakvfghir vyfghlkevh rvvistepap
      601 selqpgdipk nrdmsvrgme gslerenksn leedfllnqa devklqikcg rcqitaqsfa
      661 eikfhlldvh geeiegrlqe gtfpgskgtq eelvqhaspd wkrhpergkp ekvhsssees
      721 hacprlkrql hlhqngveml menegpqsgt nkpretcqgp ecpglhtfll wshsgfncll
      781 caemlgrked llhhwkhqhn cedpsklwai lntvsnqgvi elsseaek
//
LOCUS       XP_054221552             778 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein R3HCC1L isoform X2 [Homo
            sapiens].
ACCESSION   XP_054221552
VERSION     XP_054221552.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365577.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..778
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..778
                     /product="coiled-coil domain-containing protein R3HCC1L
                     isoform X2"
                     /calculated_mol_wt=86182
     CDS             1..778
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /coded_by="XM_054365577.1:665..3001"
                     /db_xref="GeneID:27291"
                     /db_xref="HGNC:HGNC:23512"
ORIGIN      
        1 mqqesercrv rarrpdmaly vpkarrgavl lktgdeeesc gspnsvvkek qkesslsqke
       61 vfkdkpearr lninpdrkeh ncreekksst klrmdtclqk tnrvcskrgt teskevlsqg
      121 qqqgapnagv itnaplqrhf kpkkveclev ettdvtgher illsqaclei seaqvpskpf
      181 qnvefcdfsr hepdgeafed kdlegrietd tkvleilyef prvfssvmkp enmivpikls
      241 sdseivqqsm qtsdgilnps sggitttsvp gspdgvfdqt cvdfevesvg gianstgfil
      301 dqkdtdsipa tmghislses tndtvspvmi recekndsta delhvkhepp dtavlaheth
      361 rdsgfknvgd itnkacmmdt tgmscsdhvt vdspyvvavr iadetsintr sfskfvgmsa
      421 datplhvars gndtedfsnp sacsdiyges isshftestg klieslsdca sslpikkiag
      481 snyntfldse lsmlngtkvl sdsavgidlg stgdttealh elrtaeefkt eeqddsgsie
      541 fgvsfpdres ssmetsiepk atetshtegi taieeswesm fnddgdcldp rllqelsgnt
      601 ksresiqepr sdyynhevpd idlsdcefph vieiydfpqe frtedllrvf csyqkkgfdi
      661 kwvddthalg vfsspitard algikhtmvk irplsqatra akakarayae flqpakerpe
      721 tsaalarrlv isalgvrskq sktereaelk klqearerkr leakqrediw egrdqstv
//
LOCUS       XP_054221921             246 aa            linear   PRI 20-MAR-2023
DEFINITION  DENN domain-containing protein 10 isoform X3 [Homo sapiens].
ACCESSION   XP_054221921
VERSION     XP_054221921.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365946.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..246
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..246
                     /product="DENN domain-containing protein 10 isoform X3"
                     /calculated_mol_wt=27638
     CDS             1..246
                     /gene="DENND10"
                     /gene_synonym="FAM45A"
                     /coded_by="XM_054365946.1:557..1297"
                     /db_xref="GeneID:404636"
                     /db_xref="HGNC:HGNC:31793"
ORIGIN      
        1 mylkhgspvk mmesyiavlt kgicqseeng sflskdfdar kaylagsikd ivsqfgmetv
       61 ilhtalmlkk rivvyhpkie avqeftrtlp alvwhrqdwt ilhsyvhlna delealqmct
      121 gyvagfvdle vsnrpdlydv fvnlaeseit iaplakeama mgklhkemgq livqsaedpe
      181 kseshviqdi alktreiftn lapfsevsad gekrvlnlea lkqkrfppat enflyhlaaa
      241 eqmlki
//
LOCUS       XP_054222914             236 aa            linear   PRI 20-MAR-2023
DEFINITION  polycomb group RING finger protein 5 isoform X2 [Homo sapiens].
ACCESSION   XP_054222914
VERSION     XP_054222914.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366939.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..236
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..236
                     /product="polycomb group RING finger protein 5 isoform X2"
                     /calculated_mol_wt=27381
     CDS             1..236
                     /gene="PCGF5"
                     /gene_synonym="RNF159"
                     /coded_by="XM_054366939.1:361..1071"
                     /db_xref="GeneID:84333"
                     /db_xref="HGNC:HGNC:28264"
                     /db_xref="MIM:617407"
ORIGIN      
        1 matqrkhlvk dfnpyitcyi ckgylikptt vteclhtfck tcivqhfeds ndcprcgnqv
       61 hetnplemlr ldntleeiif klvpglreqe leresefwkk nkpqengqdd tskadkpkvd
      121 eegdeneddk dyhrsdpqia icldclrnng qsgdnvvkgl mkkfircstr vtvgtikkfl
      181 slklklpssy eldvlcngei mgkdhtmefi ymtrwrlrge nsypmvlqyr pridfg
//
LOCUS       XP_054223614             398 aa            linear   PRI 20-MAR-2023
DEFINITION  neutral amino acid uniporter 4 isoform X2 [Homo sapiens].
ACCESSION   XP_054223614
VERSION     XP_054223614.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367639.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..398
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..398
                     /product="neutral amino acid uniporter 4 isoform X2"
                     /calculated_mol_wt=44597
     CDS             1..398
                     /gene="SLC36A4"
                     /gene_synonym="PAT4"
                     /coded_by="XM_054367639.1:129..1325"
                     /db_xref="GeneID:120103"
                     /db_xref="HGNC:HGNC:19660"
                     /db_xref="MIM:613760"
ORIGIN      
        1 mhilvrcshf lclrfkkstl gysdtvsfam evspwsclqk qaawgrsvvd fflvitqlgf
       61 csvyivflae nvkqvhegfl eskvfisnst nssnpcerrs vdlriymlcf lpfiillvfi
      121 relknlfvls flanvsmavs lviiyqyvvr nmpdphnlpi vagwkkyplf fgtavfafeg
      181 igvvlplenq mkeskrfpqa lnigmgivtt lyvtlatlgy mcfhdeikgs itlnlpqdvw
      241 lyqsvkilys fgifvtysiq fyvpaeiiip gitskfhtkw kqicefgirs flvsitcaga
      301 iliprldivi sfvgavssst lalilpplve iltfskehyn iwmvlknisi aftgvvgfll
      361 gtyitveeii yptpkvvagt pqspflnlns tcltsglk
//
LOCUS       XP_054223617            3540 aa            linear   PRI 20-MAR-2023
DEFINITION  protocadherin Fat 3 isoform X5 [Homo sapiens].
ACCESSION   XP_054223617
VERSION     XP_054223617.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367642.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3540
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3540
                     /product="protocadherin Fat 3 isoform X5"
                     /calculated_mol_wt=389482
     CDS             1..3540
                     /gene="FAT3"
                     /gene_synonym="CDHF15; CDHR10; hFat3"
                     /coded_by="XM_054367642.1:6643..17265"
                     /db_xref="GeneID:120114"
                     /db_xref="HGNC:HGNC:23112"
                     /db_xref="MIM:612483"
ORIGIN      
        1 msrsytdlre vlilsfnscm iscklwvita adildretmg sywltvyatd rgvvplysti
       61 evyievedvn dnapltsepi yypvvmensp kdvsviqiqa edpdsssnek ltyritsgnp
      121 qnffainikt glitttsrkl dreqqaehfl evtvtdggps pkqstiwvvv qvldendnkp
      181 qfpekvyqik lperdrkkrg epiyrafafd rdegpnaeis ysivdgnddg kffidpktgm
      241 vssrkqftag sydiltikav dngrpqksst arlhiewikk pppspipltf depfynftvm
      301 esdrvteivg vvsvqpantp lwfdivggkh aremfyilqt acgqncsteg gnfdsafdae
      361 kgvgtiviak pldaeqrsiy nmsvevtdgt nvavtqvfik vldnndngpe fsqpnydvti
      421 sedvlpdtei lqieatdrde khklsytvhs sidsismrkf ridpstgvly taerldheaq
      481 dkhilnimvr dqefpyrrnl arvivnveda ndhspyftnp lyeasvfesa algsavlqvt
      541 aldkdkgena eliytieagn tgnmfkiepv lgiitickep dmttmgqfvl sikvtdqgsp
      601 pmsataivri svtmsdnshp kfihkdyqae vnenvdigts vilisaisqs tliyevkdgd
      661 ingiftinpy sgvittrkal dyertssyql iiqatnmagm asnatvniqi vdendnapvf
      721 lfsqysgsls eaapinsivr sldnsplvir atdadsnrna llvyqivest akkfftvdss
      781 tgairtianl dhetiahfhf hvhvrdsgsp qltaespvev nievtdvndn ppvftqavfe
      841 tilllptyvg vevlkvsatd pdsevppelt yslmegsldh flidsnsgvl tiknnnlskd
      901 hymlivkvsd gkfystsmvt imvkeamdsg lhftqsfyst sisenntnit kvaivnavgn
      961 rlneplkysi lnpgnkfkik stsgviqttg vpfdreeqel yelvveasre ldhlrvarvv
     1021 vrvniedind nspvfvglpy yaavqvdaep gtliyqvtai dkdkgpngev tyvlqddygh
     1081 feinpnsgnv ilkeafnsdl snieygvtil akdggkpsls tsvelpitiv nkampvfdkp
     1141 fytasvnedi rmntpilsin atspegqgii yiiidgdpfk qfnidfdtgv lkvvspldye
     1201 vtsaykltir asdaltgara evtvdllvnd vndnppifdq ptynttlsea sligtpvlqv
     1261 vsidadsenn kmvhyqivqd tynstdyfhi dsssglilta rmldhelvqh ctlkvrsids
     1321 gfpslssevl vhiyisdvnd nppvfnqliy esyvselapr ghfvtcvqas dadssdfdrl
     1381 eysilsgndr tsflmdsksg vitlsnhrkq rmeplyslnv svsdglftst aqvhirvlga
     1441 nlyspafsqs tyvaevrenv aagtkvihvr atdgdpgtyg qisyaiindf akdrflidsn
     1501 gqvitterld renplegdvs ifvraldggg rttfctvrvi vvdendnapq fmtveyrasv
     1561 radvgrghlv tqvqaidpdd gansritysl yseasvsvad lleidpdngw mvtkgnfnql
     1621 kntvlsffvk avdggipvkh slipvyihvl ppetflpsft qsqysftiae dtaigstvdt
     1681 lrilpsqnvw fstvngerpe nnkggvfvie qetgtikldk rldretspaf hfkvaatipl
     1741 dkvdivftvd vdikvldlnd nkpvfetssy dtiimegmpv gtkltqvrai dmdwgangqv
     1801 tyslhsdsqp ekvmeafnid sntgwistlk dldhetdptf tfsvvasdlg eafslsstal
     1861 vsvrvtdind napvfaqevy rgnvkesdpp gevvavlstw drdtsdvnrq vsyhitggnp
     1921 rgrfalglvq sewkvyvkrp ldreeqdiyf lnitatdglf vtqamvevsv sdvndnspvc
     1981 dqvaytallp edipsnkiil kvsakdadig sngyirysly gsgnseffld pesgelktla
     2041 lldreripvy slmakatdgg grfcqsnihl iledvndnpp vfssdhyntc vyentatkal
     2101 ltrvqavdpd iginrkvvys ladsaggvfs idsssgiiil eqpldreqqs synisvratd
     2161 qspgqslssl ttvtitvldi ndnppvferr dylvtvpedt spgtqvlavf atskdigtna
     2221 eitylirsgn eqgkfkinpk tggisvsevl dyelckrfyl vveakdggtp alsavatvni
     2281 nltdvndnpp kfsqdvysav isedalvgds villiaedvd sqpngqihfs ivngdrdnef
     2341 tvdpvlglvk vkkkldrerv sgysllvqav dsgipamsst atvnidisdv ndnspvftpa
     2401 nytaviqenk pvgtsilqlv vtdrdsfhng ppfsfsilsg neeeefvldp hgilrsavvf
     2461 qhtesleyvl cvqakdsgkp qqvshtyirv rvieesthkp taipleifiv tmeddfpggv
     2521 igkihatdqd mydvltfalk seqkslfkvn shdgkiialg gldsgkyvln vsvsdgrfqv
     2581 pidvvvhveq lvhemlqntv tirfenvspe dfvglhmhgf rrtlrnavlt qkqdslriis
     2641 iqpvagtnql dmlfavemhs sefykpayli qklsnarrhl enimrisail ekncsgldcq
     2701 eqhceqglsl dshalmtyst arisfvcprf yrnvrctcng glcpgsndpc vekpcpgdmq
     2761 cvgyeasrrp flcqcppgkl gecsghtsls fagnsyikyr lsenskeedf klalrlrtlq
     2821 sngiimytra npciilkivd gklwfqldcg sgpgilgisg ravndgswhs vflelnrnft
     2881 slslddsyve rrraplyfqt lstessiyfg alvqadnirs ltdtrvtqvl sgfqgcldsv
     2941 ilnnnelplq nkrssfaevv gltelklgcv lypdackrsp cqhggsctgl psggyqctcl
     3001 sqftgrnces eitacfpnpc rnggscdpig ntficnckag ltgvtceedi necereecen
     3061 ggscvnvfgs flcnctpgyv gqycglrpvv vpniqaghsy vgkeeligia vvlfvifilv
     3121 vlfivfrkkv frknysrnni tlvqdpataa llnksngipf rnlrgsgdgr nvyqevgppq
     3181 vpvrpmaytp cfqsdsrsnl dkivdglgge hqemttfhpe spriltarrg vvvcsvapnl
     3241 pavspcrsdc dsirkngwda gtenkgvddp gevtcfagsn kgsnsevqsl ssfqsdsgdd
     3301 nasivtviql vnnvvdtien evsvmdqgqn ynrayhwdts dwmpgarlsd ieevpnyenq
     3361 dggsahqgst relesdyylg gydidseypp pheeeflsqd qlppplpedf pdqyealpps
     3421 qpvslastls pdcrrrpqfh psqylpphpf pnetdlvgpp ascefstfav smnqgteptg
     3481 padsvslslh nsrgtsssdv sancgfddse vamsdyesvg elslaslhip fvetqhqtqv
//
LOCUS       XP_054225052             680 aa            linear   PRI 20-MAR-2023
DEFINITION  PHD finger protein 21A isoform X7 [Homo sapiens].
ACCESSION   XP_054225052
VERSION     XP_054225052.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369077.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..680
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..680
                     /product="PHD finger protein 21A isoform X7"
                     /calculated_mol_wt=74723
     CDS             1..680
                     /gene="PHF21A"
                     /gene_synonym="BHC80; BM-006; IDDBCS; NEDMS"
                     /coded_by="XM_054369077.1:1365..3407"
                     /db_xref="GeneID:51317"
                     /db_xref="HGNC:HGNC:24156"
                     /db_xref="MIM:608325"
ORIGIN      
        1 melqtlqeal kveiqvhqkl vaqmkqdpqn adlkkqlhel qakitalsek qkrvveqlrk
       61 nlivkqeqpd kfqiqplpqs enklqtaqqq plqqlqqqqq yhhhhaqqsa aaspnltasq
      121 ktvttasmit tktlplvlka atatmpasvv gqrptiamvt ainsqkavls tdvqntpvnl
      181 qtsskvtgpg aeavqivakn tvtlvqatpp qpikvpqfip pprltprpnf lpqvrpkpva
      241 qnnipiapap ppmlaapqli qrpvmltkft pttlptsqns ihpvrvvngq tatiaktfpm
      301 aqltsiviat pgtrlagpqt vqlskpslek qtvkshtetd ekqtesrtit ppaapkpkre
      361 enpqklafmv slglvthdhl eeiqskrqer krrttanpvy sgavfeperk ksavtylnst
      421 mhpgtrkrgr ppkynavlgf galtptspqs shpdspenek tettftfpap vqpvslpspt
      481 stdgdihedf csvcrksgql lmcdtcsrvy hldcldpplk tipkgmwicp rcqdqmlkke
      541 eaipwpgtla ivhsyiayka akeeekqkll kwssdlkqer eqleqkvkql snsiskcmem
      601 kntilarqke mhsslekvkq lirlihgidl skpvdseatv gaisngpdct ppanaatstp
      661 apspssqsct ancnqgeetk
//
LOCUS       XP_054225827            1042 aa            linear   PRI 20-MAR-2023
DEFINITION  diacylglycerol lipase-alpha isoform X1 [Homo sapiens].
ACCESSION   XP_054225827
VERSION     XP_054225827.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369852.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1042
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1042
                     /product="diacylglycerol lipase-alpha isoform X1"
                     /calculated_mol_wt=114821
     CDS             1..1042
                     /gene="DAGLA"
                     /gene_synonym="C11orf11; DAGL(ALPHA); DAGLALPHA; NSDDR"
                     /coded_by="XM_054369852.1:269..3397"
                     /db_xref="GeneID:747"
                     /db_xref="HGNC:HGNC:1165"
                     /db_xref="MIM:614015"
ORIGIN      
        1 mpgivvfrrr wsvgsddlvl paiflfllht twfvilsvvl fglvynphea cslnlvdhgr
       61 gylgillscm iaemaiiwls mrggilytep rdsmqyvlyv rlailviefi yaivgivwlt
      121 qyytscndlt aknvtlgmvv cnwvvilsvc itvlcvfdpt grtfvklrat krrqrnlrty
      181 nlrhrleegq atswsrrlkv flcctrtkds qsdayseiay lfaeffrdld ivpsdiiagl
      241 vllrqrqrak rnavldeann dilaflsgmp vtrntkyldl knsqemlryk evcyymlfal
      301 aaygwpmylm rkpacglcql arscscclcp arprfapgvt ieednccgcn aiairrhfld
      361 enmtavdivy tschdavyet pfyvavdhdk kkvvisirgt lspkdaltdl tgdaerlpve
      421 ghhgtwlghk gmvlsaeyik kkleqemvls qafgrdlgrg tkhyglivvg hslgagtaai
      481 lsfllrpqyp tlkcfayspp ggllsedame yskefvtavv lgkdlvprig lsqlegfrrq
      541 lldvlqrstk pkwriivgat kcipkselpe evevttlast rlwthpsdlt ialsastply
      601 ppgriihvvh nhpaeqcccc eqeeptyfai wgdnkafnev iispamlheh lpyvvmegln
      661 kvlenynkgk tallsaakvm vsptevdltp elifqqqplp tgppmptgla lelptadhrn
      721 ssvrsksqse mslegfsegr llspvvaaaa rqdpvellll stqerlaael qarraplatm
      781 eslsdtesly sfdsrrssgf rsirgspslh avlerdeghl fyidpaipee npslssrtel
      841 laadslskhs qdtqpleaal gsggvtperp psaaandeee evggggggpa srgelalhng
      901 rlgdspspqv lefaefidsl fnldsksssf qdlycmvvpe sptsdyaegp kspsqqeill
      961 raqfepnlvp kpprlfagsa dpssgislsp sfplsssgel mdltptglss qeclaadkir
     1021 tstptghgas pakqdelvis ar
//
LOCUS       XP_054226028             459 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylserine synthase 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054226028
VERSION     XP_054226028.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370053.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..459
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..459
                     /product="phosphatidylserine synthase 2 isoform X2"
                     /calculated_mol_wt=53033
     CDS             1..459
                     /gene="PTDSS2"
                     /gene_synonym="PSS2"
                     /coded_by="XM_054370053.1:982..2361"
                     /db_xref="GeneID:81490"
                     /db_xref="HGNC:HGNC:15463"
                     /db_xref="MIM:612793"
ORIGIN      
        1 mcwlgaecgr sqgahaslrs ppstreagaa aqrrahtltv lfiltctlgy vtlleetpqd
       61 tayntkrgiv asilvflcfg vtqakdgpfs rphpaywrfw lcvsvvyelf lifilfqtvq
      121 dgrqflkyvd pklgvplper dyggncliyd pdnetdpfhn iwdkldgfvp ahflgwylkt
      181 lmirdwwmcm iisvmfefle yslehqlpnf secwwdhwim dvlvcnglgi ycgmktlewl
      241 slktykwqgl wniptykgkm kriafqftpy swvrfewkpa sslrrwlavc giilvfllae
      301 lntfylkfvl wmppehylvl lrlvffvnvg gvamreiydf mddpkphkkl gpqawlvaai
      361 tatellivvk ydphtltlsl pfyisqcwtl gsvlaltwtv wrfflrditl ryketrwqkw
      421 qnkddqgstv gngdqhplgl dedllgpgva egegaptpn
//
LOCUS       XP_054227594             582 aa            linear   PRI 20-MAR-2023
DEFINITION  V-type proton ATPase 116 kDa subunit a 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054227594
VERSION     XP_054227594.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371619.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..582
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..582
                     /product="V-type proton ATPase 116 kDa subunit a 2 isoform
                     X3"
                     /calculated_mol_wt=66130
     CDS             1..582
                     /gene="ATP6V0A2"
                     /gene_synonym="A2; a2V; ARCL; ARCL2A; ATP6A2; ATP6N1D;
                     J6B7; RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
                     /coded_by="XM_054371619.1:352..2100"
                     /db_xref="GeneID:23545"
                     /db_xref="HGNC:HGNC:18481"
                     /db_xref="MIM:611716"
ORIGIN      
        1 mvlhktedyl rqvlckaaes vysrviqvkk mkaiyhmlnm csfdvtnkcl iaevwcpead
       61 lqdlrralee gsresgatip sfmniiptke tpptrirtnk ftegfqnivd aygvgsyrev
      121 npalftiitf pflfavmfgd fghgfvmflf alllvlnenh prlnqsqeim rmffngryil
      181 llmglfsvyt gliyndcfsk svnlfgsgwn vsamyssshp paehkkmvlw ndsvvrhnsi
      241 lqldpsipgv frgpyplgid piwnlatnrl tflnsfkmkm svilgiihmt fgvilgifnh
      301 lhfrkkfniy lvsipellfm lcifgylifm ifykwlvfsa etsrvapsil iefinmflfp
      361 asktsglytg qeyvqrvllv vtalsvpvlf lgkplfllwl hngrscfgvn rsgytlirkd
      421 seeevsllgs qdieegnhqv edgcremace efnfgeilmt qvihsieycl gcisntasyl
      481 rlwalslaha qlsdvlwaml mrvglrvdtt ygvllllpvi alfavltifi llimeglsaf
      541 lhairlhwve fqnkfyvgag tkfvpfsfsl lsskfnndds va
//
LOCUS       XP_054228257             780 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-dependent 6-phosphofructokinase, muscle type isoform X12 [Homo
            sapiens].
ACCESSION   XP_054228257
VERSION     XP_054228257.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372282.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..780
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..780
                     /product="ATP-dependent 6-phosphofructokinase, muscle type
                     isoform X12"
                     /calculated_mol_wt=85052
     CDS             1..780
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /coded_by="XM_054372282.1:99..2441"
                     /db_xref="GeneID:5213"
                     /db_xref="HGNC:HGNC:8877"
                     /db_xref="MIM:610681"
ORIGIN      
        1 mtheehhaak tlgigkaiav ltsggdaqgm naavravvrv giftgarvff vhegyqglvd
       61 ggdhikeatw esvsmmlqlg gtvigsarck dfreregrlr aaynlvkrgi tnlcviggdg
      121 sltgadtfrs ewsdllsdlq kagkitdeea tkssylnivg lvgsidndfc gtdmtigtds
      181 alhrimeivd aitttaqshq rtfvlevmgr hcgylalvts lscgadwvfi pecppdddwe
      241 ehlcrrlset rtrgsrlnii ivaegaidkn gkpitsedik nlvvkrlgyd trvtvlghvq
      301 rggtpsafdr ilgsrmgvea vmallegtpd tpacvvslsg nqavrlplme cvqvtkdvtk
      361 amdekkfdea lklrgrsfmn nwevykllah vrppvsksgs htvavmnvga paagmnaavr
      421 stvrigliqg nrvlvvhdgf eglakgqiee agwsyvggwt gqggsklgtk rtlpkksfeq
      481 isanitkfni qglviiggfe aytgglelme grkqfdelci pfvvipatvs nnvpgsdfsv
      541 gadtalntic ttcdrikqsa agtkrrvfii etmggycgyl atmaglaaga daayifeepf
      601 tirdlqanve hlvqkmkttv krglvlrnek cnenyttdfi fnlyseegkg ifdsrknvlg
      661 hmqqggsptp fdrnfatkmg akamnwmsgk ikesyrngri fantpdsgcv lgmrkralvf
      721 qpvaelkdqt dfehripkeq wwlklrpilk ilakyeidld tsdhahlehi trkrsgeaav
//
LOCUS       XP_054234565            4864 aa            linear   PRI 20-MAR-2023
DEFINITION  ryanodine receptor 3 isoform X5 [Homo sapiens].
ACCESSION   XP_054234565
VERSION     XP_054234565.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378590.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4864
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..4864
                     /product="ryanodine receptor 3 isoform X5"
                     /calculated_mol_wt=551288
     CDS             1..4864
                     /gene="RYR3"
                     /gene_synonym="RYR-3"
                     /coded_by="XM_054378590.1:80..14674"
                     /db_xref="GeneID:6263"
                     /db_xref="HGNC:HGNC:10485"
                     /db_xref="MIM:180903"
ORIGIN      
        1 maeggegged eiqflrtede vvlqciatih keqrkfclaa eglgnrlcfl eptseakyip
       61 pdlcvcnfvl eqslsvralq emlantgeng gegaaqgggh rtllyghavl lrhsfsgmyl
      121 tclttsrsqt dklafdvglr ehatgeacww tihpaskqrs egekvrigdd lilvsvsser
      181 ylhlsvsngn iqvdasfmqt lwnvhptcsg ssieegyllg ghvvrlfhgh decltipstd
      241 qndsqhrrif yeaggagtra rslwrveplr iswsgsnirw gqafrlrhlt tghylalted
      301 qglilqdrak sdtkstafsf raskelkekl dsshkrdieg mgvpeikygd svcfvqhias
      361 glwvtykaqd aktsrlgplk rkvilhqegh mddgltlqrc qreesqaari irnttalfsq
      421 fvsgnnrtaa pitlpieevl qtlqdliayf qppeeemrhe dkqnklrslk nrqnlfkeeg
      481 mlalvlncid rlnvynsvah fagiareesg mawkeilnll ykllaalirg nrnncaqfsn
      541 nldwliskld rlesssgile vlhciltesp ealnliaegh iksiislldk hgrnhkvldi
      601 lcslclcngv avranqnlic dnllprrnll lqtrlindvt sirpniflgv aegsaqykkw
      661 yfeliidqvd pfltaepthl rvgwasssgy apypgggegw ggngvgddly sygfdglhlw
      721 sgripravas inqhllrsdd vvsccldlgv psisfringq pvqgmfenfn tdglffpvms
      781 fsagvkvrfl mggrhgefkf lppsgyapcy eallpkekmr lepvkeykrd adgirdllgt
      841 tqflsqasfi pcpvdtsqvi lpphlekird rlaenihelw gmnkielgwt fgkirddnkr
      901 qhpclvefsk lpeteknynl qmstetlktl lalgchiahv npaaeedlkk vklpknymms
      961 ngykpapldl sdvkllppqe ilvdklaena hnvwakdrik qgwtygiqqd lknkrnprlv
     1021 pyalldertk ksnrdslrea vrtfvgygyn iepsdqelad savekvsidk irffrversy
     1081 avrsgkwyfe fevvtggdmr vgwarpgcrp dvelgaddqa fvfegnrgqr whqgsgyfgr
     1141 twqpgdvvgc minlddasmi ftlngellit nkgselafad yeiengfvpi cclglsqigr
     1201 mnlgtdastf kfytmcglqe gfepfavnmn rdvamwfskr lptfvnvpkd hphievmrid
     1261 gtmdsppclk vthktfgtqn snadmiycrl smpvechssf shspcldsea fqkrkqmqei
     1321 lshtttqcyy airifagqdp scvwvgwvtp dyhlysekfd lnknctvtvt lgdergrvhe
     1381 svkrsncymv wggdivassq rsnrsnvdle igclvdlamg mlsfsangke lgtcyqvepn
     1441 tkvfpavflq ptstslfqfe lgklknampl saaifrseek npvpqcpprl dvqtiqpvlw
     1501 srmpnsflkv etervserhg wvvqcleplq mmalhipeen rcvdilelce qedlmrfhyh
     1561 tlrlysavca lgnsrvayal cshvdlsqlf yaidnkylpg llrsgfydll isihlasake
     1621 rklmmkneyi ipitsttrni clfpdeskrh glpgvglrtc lkpgfrfstp cfvvtgedhq
     1681 kqspeiples lrtkalsmlt eavqcsgahi rdpvggsvef qfvpvlklig tllvmgvfdd
     1741 ddvrqillli dpsvfgehsa gteegaekee vtqveekave agekagkeap vkgllqtrlp
     1801 esvklqmcel lsylcdcelq hrveaivafg diyvsklqan qkfrynelmq alnmsaalta
     1861 rktkefrspp qeqinmllnf qlgencpcpe eireelydfh edlllhcgvp leeeeeeeed
     1921 tswtgklcal vykikgppkp ekeqpteeee rcpttlkeli sqtmicwaqe dqiqdselvr
     1981 mmfnllrrqy dsigellqal rktytishts vsdtinllaa lgqirsllsv rmgkeeellm
     2041 inglgdimnn kvfyqhpnlm rvlgmhetvm evmvnvlgte ksqiafpkmv asccrflcyf
     2101 crisrqnqka mfehlsylle nssvglasps mrgstpldva assvmdnnel alsleepdle
     2161 kvvtylagcg lqscpmllak gypdvgwnpi egerylsflr favfvnsesv eenasvvvkl
     2221 lirrpecfgp alrgeggngl laamqgaiki senpaldlps qgykrevted deeeeeivhm
     2281 gnaimsfysa lidllgrcap emhliqtgkg eairirsilr slvptedlvg iisiplklps
     2341 lnkdgsvsep dmaanfcpdh kapmvlfldr vygikdqtfl lhllevgflp dlrasasldt
     2401 vslstteaal alnryicsav lplltrcapl fagtehctsl idstlqtiyr lskgrsltka
     2461 qrdtieecll aicnhlrpsm lqqllrrlvf dvpqlneyck mplklltnhy eqcwkyyclp
     2521 sgwgsyglav eeelhltekl fwgifdslsh kkydpdlfrm alpclsaiag alppdyldtr
     2581 itatlekqis vdadgnfdpk pintmnfslp ekleyivtky aehshdkwac dksqsgwkyg
     2641 isldenvkth plirpfktlt ekekeiyrwp areslktmla vgwtvertke gealvqqren
     2701 eklrsvsqan qgnsyspapl dlsnvvlsre lqgmvevvae nyhniwakkk kleleskggg
     2761 shpllvpydt ltakekfkdr ekaqdlfkfl qvngiivsrg mkdmeldass mekrfaykfl
     2821 kkilkyvdsa qefiahleai vssgkteksp rdqeikffak vllplvdqyf tshclyflss
     2881 plkplsssgy ashkekemva glfcklaalv rhrislfgsd sttmvsclhi laqtldtrtv
     2941 mksgselvka glraffenaa edlektsenl klgkfthsrt qikgvsqnin yttvallpil
     3001 tsifehvtqh qfgmdlllgd vqiscyhilc slyslgtgkn iyverqrpal geclaslaaa
     3061 ipvafleptl nrynplsvfn tktprersil gmpdtvedmc pdipqleglm keindlaesg
     3121 arytemphvi evilpmlcny lsywwergpe nlppstgpcc tkvtsehlsl ilgnilkiin
     3181 nnlgideasw mkriavyaqp iiskarpdll rshfiptlek lkkkavktvq eeeqlkadgk
     3241 gdtqeaelli ldefavlcrd lyafypmlir yvdnnrsnwl kspdadsdql frmvaevfil
     3301 wckshnfkre eqnfviqnei nnlafltgds kskmsksggq dqerkktkrr gdlysiqtsl
     3361 ivaalkkmlp iglnmctpgd qelislaksr yshrdtdeev rehlrnnlhl qeksddpavk
     3421 wqlnlykdvl kseepfnpek tvervqrisa avfhleqveq plrskkavwh kllskqrkra
     3481 vvacfrmapl ynlprhrsin lflhgyqrfw ieteeysfee klvqdlaksp kveeeeeeet
     3541 ekqpdplhqi ilyfsrnalt erskleddpl ytsyssmmak scqsgedeee dedkektfee
     3601 kemekqktly qqarlherga aemvlqmisa skgemspmvv etlklgiail nggnagvqqk
     3661 mldylkekkd agffqslsgl mqscsvldln aferqnkaeg lgmvteegtl ivrergekvl
     3721 qndeftrdlf rflqllcegh nsdfqnflrt qmgntttvnv iistvdyllr lqesisdfyw
     3781 yysgkdiide sgqhnfskal avtkqifnsl teyiqgpcig nqqslahsrl wdavvgflhv
     3841 fanmqmklsq dssqiellke lldllqdmvv mllsllegnv vngtigkqmv dtlvesstnv
     3901 emilkffdmf lklkdltssd tfkeydpdgk giiskkefqk amegqkqytq seidfllsca
     3961 eadendmfny vdfvdrfhep akdigfnvav lltnlsehmp ndsrlkclld paesvlnyfe
     4021 pylgrieimg gakkiervyf eisessrtqw ekpqvkeskr qfifdvvneg geqekmelfv
     4081 nfcedtifem qlasqisesd sadrpeeeee dedssyvlei ageeeedgsl epasafamac
     4141 asvkrnvtdf lkratlknlr kqyrnvkkmt akelvkvlfs ffwmlfvglf qllftilggi
     4201 fqilwstvfg gglvegakni rvtkilgdmp dptqfgihdd tmeaeraevm epgittelvh
     4261 fikgekgdtd imsdlfglhp kkegslkhgp evglgdlsei igkdepptle stvqkkrkaq
     4321 aaemkaanea egkvesekad medgekedkd keeeqaeylw tevtkkkkrr cgqkvekpea
     4381 ftanffkgle iyqtkllhyl arnfynlrfl alfvafainf illfykvtee pleeetedva
     4441 nlwnsfndee eeeamvffvl qestgymapt lralaiihti islvcvvgyy clkvplvvfk
     4501 rekeiarkle fdglyiteqp seddikgqwd rlvintpsfp nnywdkfvkr kvinkygdly
     4561 gaeriaellg ldknaldfsp veetkaeaas lvswlssidm kyhiwklgvv ftdnsflyla
     4621 wyttmsvlgh ynnfffaahl ldiamgfktl rtilssvthn gkqlvltvgl lavvvylytv
     4681 vafnffrkfy nksedddepd mkcddmmtcy lfhmyvgvra gggigdeied pagdpyemyr
     4741 ivfditffff vivillaiiq gliidafgel rdqqeqvred metkcficgi gndyfdttph
     4801 gfethtlqeh nlanylfflm ylinkdeteh tgqesyvwkm yqercwdffp agdcfrkqye
     4861 dqlg
//
LOCUS       XP_054235337             670 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 263 isoform X3 [Homo sapiens].
ACCESSION   XP_054235337
VERSION     XP_054235337.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379362.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..670
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..670
                     /product="zinc finger protein 263 isoform X3"
                     /calculated_mol_wt=75800
     CDS             1..670
                     /gene="ZNF263"
                     /gene_synonym="FPM315; ZKSCAN12; ZSCAN44"
                     /coded_by="XM_054379362.1:1426..3438"
                     /db_xref="GeneID:10127"
                     /db_xref="HGNC:HGNC:13056"
                     /db_xref="MIM:604191"
ORIGIN      
        1 masgpgsqer egllivklee dcawsqelpp pdpgpspeas hlrfrrfrfq eaagpreals
       61 rlqelchgwl rpemrtkeqi lellvleqfl tilpqeiqsr vqelhpesge eavtlvedmq
      121 relgrlrqqv tnhgrgtevl leeplpleta respsfklep meterspgpr lqellgpspq
      181 rdpqavkerg nmedkemtgp qlpesledva myisqeewgh qdpskralsr dtvqesyenv
      241 dsleshipsq evpgtqvgqg gklwdpsvqs ckeglsprgp apgeekfenl egvpsvcsen
      301 ihpqvllpdq argevpwspe lgrphdrsqg dwapppeggm eqalagassg relgrpkelq
      361 pkklhlcplc gknfsnnsnl irhqrihaae rlcmgvdcte ifggnprfls lhrahlgeea
      421 hkclecgkcf sqnthltrhq rthtgekpyq cnicgkcfsc nsnlhrhqrt htgekpykcp
      481 ecgeifahss nllrhqriht gerpykcpec gksfsrsshl viherthere rlypfsecge
      541 avsdstpflt nhgahkaekk lfecltcgks frqgmhltrh qrthtgekpy kctlcgenfs
      601 hrsnlirhqr ihtgekpytc hecgdsfshs snrirhlrth tgerpykcse cgesfsrssr
      661 lmshqrthtv
//
LOCUS       XP_054236123            1516 aa            linear   PRI 20-MAR-2023
DEFINITION  glutamate receptor ionotropic, NMDA 2A isoform X1 [Homo sapiens].
ACCESSION   XP_054236123
VERSION     XP_054236123.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380148.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1516
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1516
                     /product="glutamate receptor ionotropic, NMDA 2A isoform
                     X1"
                     /calculated_mol_wt=170883
     CDS             1..1516
                     /gene="GRIN2A"
                     /gene_synonym="EPND; FESD; GluN2A; LKS; NMDAR2A; NR2A"
                     /coded_by="XM_054380148.1:56..4606"
                     /db_xref="GeneID:2903"
                     /db_xref="HGNC:HGNC:4585"
                     /db_xref="MIM:138253"
ORIGIN      
        1 mesvipaayp aaefhawlle qeaklvipff wspcsprpcl slftlqgpsv atmgrvgywt
       61 llvlpallvw rgpapsaaae kgppalniav mlghshdvte relrtlwgpe qaaglpldvn
      121 vvallmnrtd pkslithvcd lmsgarihgl vfgddtdqea vaqmldfiss htfvpilgih
      181 ggasmimadk dptstffqfg asiqqqatvm lkimqdydwh vfslvttifp gyrefisfvk
      241 ttvdnsfvgw dmqnvitldt sfedaktqvq lkkihssvil lycskdeavl ilsearslgl
      301 tgydffwivp slvsgnteli pkefpsglis vsyddwdysl earvrdgigi lttaassmle
      361 kfsyipeaka scygqmerpe vpmhtlhpfm vnvtwdgkdl sfteegyqvh prlvvivlnk
      421 drewekvgkw enhtlslrha vwpryksfsd cepddnhlsi vtleeapfvi vedidpltet
      481 cvrntvpcrk fvkinnstne gmnvkkcckg fcidilkkls rtvkftydly lvtngkhgkk
      541 vnnvwngmig evvyqravma vgsltineer sevvdfsvpf vetgisvmvs rsngtvspsa
      601 flepfsasvw vmmfvmlliv saiavfvfey fspvgynrnl akgkaphgps ftigkaiwll
      661 wglvfnnsvp vqnpkgttsk imvsvwaffa viflasytan laafmiqeef vdqvtglsdk
      721 kfqrphdysp pfrfgtvpng sternirnny pymhqymtkf nqkgvedalv slktgkldaf
      781 iydaavlnyk agrdegcklv tigsgyifat tgygialqkg spwkrqidla llqfvgdgem
      841 eeletlwltg ichneknevm ssqldidnma gvfymlaaam alslitfiwe hlfywklrfc
      901 ftgvcsdrpg llfsisrgiy scihgvhiee kkkspdfnlt gsqsnmlkll rsaknissms
      961 nmnssrmdsp kraadfiqrg slimdmvsdk gnlmysdnrs fqgkesifgd nmnelqtfva
     1021 nrqkdnlnny vfqgqhpltl nesnpntvev avsteskans rprqlwkksv dsirqdslsq
     1081 npvsqrdeat aenrthslks prylpeemah sdisetsnra tchrepdnsk nhktkdnfkr
     1141 svaskypkdc severtylkt ksssprdkiy tidgekepgf hldppqfven vtlpenvdfp
     1201 dpyqdpsenf rkgdstlpmn rnplhneegl snndqyklys khftlkdkgs phsetseryr
     1261 qnsthcrscl snmptysghf tmrspfkcda clrmgnlydi dedqmlqetg npatgeqvyq
     1321 qdwaqnnalq lqknklrisr qhsydnivdk preldlsrps rsislkdrer llegnfygsl
     1381 fsvpssklsg kksslfpqgl edskrsksll pdhtsdnpfl hshrddqrlv igrcpsdpyk
     1441 hslpsqavnd sylrsslrst asycsrdsrg hndvyisehv mpyaanknnm ystprvlnsc
     1501 snrrvykkmp siesdv
//
LOCUS       XP_054236128             971 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger CCCH domain-containing protein 7A isoform X1 [Homo
            sapiens].
ACCESSION   XP_054236128
VERSION     XP_054236128.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380153.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..971
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..971
                     /product="zinc finger CCCH domain-containing protein 7A
                     isoform X1"
                     /calculated_mol_wt=110407
     CDS             1..971
                     /gene="ZC3H7A"
                     /gene_synonym="HSPC055; ZC3H7; ZC3HDC7"
                     /coded_by="XM_054380153.1:367..3282"
                     /db_xref="GeneID:29066"
                     /db_xref="HGNC:HGNC:30959"
                     /db_xref="MIM:619819"
ORIGIN      
        1 msnvseerrk rqqnikeglq fiqsplsypg tqeqyavylr alvrnlfneg ndvyrehdwn
       61 nsisqyteal niadyaksee ilipkeiiek lyinriacys nmgfhdkvle dcnivlslna
      121 snckalyrks kalsdlgryk kaydavakcs lavpqdehvi kltqelaqkl gfkirkayvr
      181 aelslksvpg dgatkalnhs vediepdllt prqeavpvvs lpapsfshev gselasvpvm
      241 pltsilplqv eesalpsavl anggkmpftm peaflddgdm vlgdelddll dsapetnetv
      301 mpsalvrgpl qtasvspsmp fsasllgtlp igaryappps fsefypplts sledfcssln
      361 sfsmseskrd lststsregt plnnsnssll lmngpgslfa senflgissq prndfgnffg
      421 savtkpsssv tprhplegth elrqacqicf vksgpklmdf tyhanidhkc kkdiligrik
      481 nvedkswkki rprptktnye gpyyickdva aeeecrysgh ctfaycqeei dvwtlerkga
      541 fsreaffggn gkinltvfkl lqehlgefif lcekcfdhkp rmiskrnkdn stacshpvtk
      601 hefednkclv hilrettvky skirsfhgqc qldlcrhevr ygclredecf yahslvelkv
      661 wimqnetgis hdaiaqeskr ywqnleanvp gaqvlgnqim pgflnmkikf vcaqclrngq
      721 viepdknrky csakarhswt kdrramrvms ierkkwmnir plptkkqmpl qfdlcnhias
      781 gkkcqyvgnc sfahspeere vwtymkengi qdmeqfyelw lksqknekse diasqsnken
      841 gkqihmptdy aevtvdfhcw mcgkncnsek qwqghissek hkekvfhted dqycwqhrfp
      901 tgyfsicdry mngtcpegns ckfahgnael heweerrdal kmklnkarkd hligpndndf
      961 gkysflfkdl n
//
LOCUS       XP_054170461             696 aa            linear   PRI 20-MAR-2023
DEFINITION  SEC14-like protein 5 isoform X1 [Homo sapiens].
ACCESSION   XP_054170461
VERSION     XP_054170461.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314486.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..696
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..696
                     /product="SEC14-like protein 5 isoform X1"
                     /calculated_mol_wt=78811
     CDS             1..696
                     /gene="SEC14L5"
                     /gene_synonym="PRELID4B"
                     /coded_by="XM_054314486.1:221..2311"
                     /db_xref="GeneID:9717"
                     /db_xref="HGNC:HGNC:29032"
                     /db_xref="MIM:619412"
ORIGIN      
        1 mvqryqspvr vykypfelvm aayekrfptc pqipvflgse vlresrspdg avhvverscr
       61 lrvdaprllr kiagvehvvf vqtnilnwke rtllieahne tfanrvvvne hcsytvhpen
      121 edwtcfeqsa sldirsffgf enalekiamk qytanvkrgk eviehylnel isqgtshipr
      181 wtpapvreed arnqagprdp ssleahgprs tlgpaleavs mdgdkldady ierclghltp
      241 mqescliqlr hwlqethkgk ipkdehilrf lrahdfhldk aremlrqsls wrkqhqvdll
      301 lqtwqppall eefyaggwhy qdidgrplyi lrlgqmdtkg lmkavgeeal lrhvlsvnee
      361 gqkrcegstr qlgrpisswt clldleglnm rhlwrpgvka llrmievved nypetlgrll
      421 ivraprvfpv lwtlispfin entrrkfliy sgsnyqgpgg lvdyldrevi pdflggesvc
      481 nvpegglvpk slymteeeqe htdqlwqwse tyhsasvlrg aphevaveil egesvitwdf
      541 dilrgdvvfs lyhtkqaprl garepgtras gqlidkgwvl grdysrveap lvcregesiq
      601 gshvtrwpgv yllqwqmhsp pssvacslpg vddvltalhs pgpkckllyy cevlasedfr
      661 gsmsslesct sgfsqlsaat sssssgqshs sslvsr
//
LOCUS       XP_054172400             727 aa            linear   PRI 20-MAR-2023
DEFINITION  platelet endothelial cell adhesion molecule isoform X1 [Homo
            sapiens].
ACCESSION   XP_054172400
VERSION     XP_054172400.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316425.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..727
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..727
                     /product="platelet endothelial cell adhesion molecule
                     isoform X1"
                     /calculated_mol_wt=81161
     CDS             1..727
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /coded_by="XM_054316425.1:196..2379"
                     /db_xref="GeneID:5175"
                     /db_xref="HGNC:HGNC:8823"
                     /db_xref="MIM:173445"
ORIGIN      
        1 mqprwaqgat mwlgvlltll lcsslegqen sftinsvdmk slpdwtvqng knltlqcfad
       61 vsttshvkpq hqmlfykddv lfynissmks tesyfipevr iydsgtykct vivnnkektt
      121 aeyqvlvegv psprvtldkk eaiqggivrv ncsvpeekap ihftieklel nekmvklkre
      181 knsrdqnfvi lefpveeqdr vlsfrcqari isgihmqtse stkselvtvt esfstpkfhi
      241 sptgmimega qlhikctiqv thlaqefpei iiqkdkaiva hnrhgnkavy svmamvehsg
      301 nytckvessr iskvssivvn itelfskpel essfthldqg erlnlscsip gappanftiq
      361 kedtivsqtq dftkiasksd sgtyictagi dkvvkksntv qivvcemlsq prisydaqfe
      421 vikgqtievr cesisgtlpi syqllktskv lenstknsnd pavfkdnpte dveyqcvadn
      481 chshakmlse vlrvkviapv devqisilss kvvesgediv lqcavnegsg pitykfyrek
      541 egkpfyqmts natqafwtkq kankeqegey yctafnranh assvprskil tvrvilapwk
      601 kgliavviig viialliiaa kcyflrkaka kqmpvemsrp avpllnsnne kmsdpnmean
      661 shyghnddvg nhamkpindn keplnsdvqy tevqvssaes hkdlgkkdte tvysevrkav
      721 pengrlp
//
LOCUS       XP_054173735             574 aa            linear   PRI 20-MAR-2023
DEFINITION  rab GTPase-binding effector protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054173735
VERSION     XP_054173735.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317760.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..574
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..574
                     /product="rab GTPase-binding effector protein 1 isoform
                     X3"
                     /calculated_mol_wt=64918
     CDS             1..574
                     /gene="RABEP1"
                     /gene_synonym="RAB5EP; RABPT5"
                     /coded_by="XM_054317760.1:103..1827"
                     /db_xref="GeneID:9135"
                     /db_xref="HGNC:HGNC:17677"
                     /db_xref="MIM:603616"
ORIGIN      
        1 mlrncgkncm keddeqqrln krkdhkkadv eeeikipvvc altqeessaq lsneektpfk
       61 ikitdrssyp evttnilehl dstrgsvhsl daglllpsgd pfsksdndmf kdglrraqst
      121 dslgtsgslq skalgynyka ksagnldesd fgplvgadsv senfdtaslg slqmpsgfml
      181 tkdqeraika mtpeqeetas llssvtqgme sayvspsgyr lvsetewnll qkevhnagnk
      241 lgrrcdmcsn yekqlqgiqi qeaetrdqvk klqlmlrqan dqlektmkdk qeledfikqs
      301 sedsshqisa lvlraqasei lleelqqgls qakrdvqeqm avlmqsreqv seelvrlqkd
      361 ndslqgkhsl hvslqqaedf ilpdttealr elvlkyredi invrtaadhv eeklkaeilf
      421 lkeqiqaeqc lkenleetlq leienckeei asisslkael erikvekgql estlreksqq
      481 leslqeikis leeqlkketa akatveqlmf eeknkaqrlq teldvseqvq rdfvklsqtl
      541 qvqlerirqa dslerirail ndtkltdinq lpet
//
LOCUS       XP_054174853             568 aa            linear   PRI 20-MAR-2023
DEFINITION  protein hinderin isoform X4 [Homo sapiens].
ACCESSION   XP_054174853
VERSION     XP_054174853.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318878.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..568
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..568
                     /product="protein hinderin isoform X4"
                     /calculated_mol_wt=64433
     CDS             1..568
                     /gene="KIAA1328"
                     /coded_by="XM_054318878.1:264..1970"
                     /db_xref="GeneID:57536"
                     /db_xref="HGNC:HGNC:29248"
                     /db_xref="MIM:616480"
ORIGIN      
        1 mspkadvklk tsrvtdasis meslkgtgds vdeqnscrge iksaslkdlc ledkrrianl
       61 ikelarvsee kevteerlka eqesfekkir qleeqnelii kerealqlqy recqellsly
      121 qkylseqqek ltmslselga armqeqqvss rkstlqcssv eldgsylsia rpqtyyqtkq
      181 rpksavqdsa sesliafrnn slkpvtlhhp kddldkipse tttcncespg rkpavptekm
      241 pqeelhmkec phlkptpsqc cghrlaadrv hdshptnmtp qhpkthpesc sycrlswasl
      301 vhgggalqpi etlkkqised rkqqlmlqkm eleiekerlq hllaqqetkl llkqqqlhqs
      361 rldynwlraq alfksrelva ekqltkpqel kldmngsdsg psllksncdg wllgtsssik
      421 khqdppnsge nrkerktvgf hshmkddaqw scqkkdtcrp qrgtvtgvrk dastspmptg
      481 slkdfvttas pslqhttsry etslldlvqs lspnsapkpq rypsreagaw nhgtfrlspl
      541 kstrkkmgmh rtpeeleenq ilediffi
//
LOCUS       XP_054175217             311 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleoporin SEH1 isoform X5 [Homo sapiens].
ACCESSION   XP_054175217
VERSION     XP_054175217.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319242.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..311
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..311
                     /product="nucleoporin SEH1 isoform X5"
                     /calculated_mol_wt=33979
     CDS             1..311
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /coded_by="XM_054319242.1:112..1047"
                     /db_xref="GeneID:81929"
                     /db_xref="HGNC:HGNC:30379"
                     /db_xref="MIM:609263"
ORIGIN      
        1 mfvarsiaad hkdlihdvsf dfhgrrmatc ssdqsvkvwd ksesgdwhct aswkvkrttl
       61 vdsrtsvtdv kfapkhmglm latcsadgiv riyeapdvmn lsqwslqhei scklscscis
      121 wnpsssrahs pmiavgsdds spnamakvqi feynentrky akaetlmtvt dpvhdiafap
      181 nlgrsfhila iatkdvrift lkpvrkelts sggptkfeih ivaqfdnhns qvwrvswnit
      241 gtvlassgdd gcvrlwkany mdnwkctgil kgngspvngs sqqgtsnpsl gstipslqns
      301 lngssagrkh s
//
LOCUS       XP_054176184            1505 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor L1 isoform X2 [Homo sapiens].
ACCESSION   XP_054176184
VERSION     XP_054176184.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320209.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1505
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1505
                     /product="adhesion G protein-coupled receptor L1 isoform
                     X2"
                     /calculated_mol_wt=165981
     CDS             1..1505
                     /gene="ADGRL1"
                     /gene_synonym="CIRL1; CL1; DEDBANP; LEC2; LPHN1"
                     /coded_by="XM_054320209.1:281..4798"
                     /db_xref="GeneID:22859"
                     /db_xref="HGNC:HGNC:20973"
                     /db_xref="MIM:616416"
ORIGIN      
        1 marlaavlwn lcvtavlvts atqglsragl pfglmrrela cegypielrc pgsdvimven
       61 anygrtddki cdadpfqmen vqcylpdafk imsqrcnnrt qcvvvagsda fpdpcpgtyk
      121 ylevqydcvp ykveqkvfvc pgtlqkvlep tsthesehqs gawckdplqa gdriyvmpwi
      181 pyrtdtltey aswedyvaar htttyrlpnr vdgtgfvvyd gavfynkert rnivkydlrt
      241 riksgetvin tanyhdtspy rwggktdidl avdenglwvi yategnngrl vvsqlnpytl
      301 rfegtwetgy dkrsasnafm vcgvlyvlrs vyvdddseaa gnrvdyafnt nanreepvsl
      361 tfpnpyqfis svdynprdnq lyvwnnyfvv ryslefgppd psageddslp gpatspplst
      421 tttarptplt staspaattp lrrapltthp vgainqlgpd lppatapvps trrppapnlh
      481 vspelfcepr evrrvqwpat qqgmlverpc pkgtrgiasf qclpalglwn prgpdlsnct
      541 spwvnqvaqk iksgenaani aselarhtrg siyagdvsss vklmeqlldi ldaqlqalrp
      601 ieresagkny nkmhkrertc kdyikavvet vdnllrpeal eswkdmnate qvhtatmlld
      661 vleegaflla dnvreparfl aakenvvlev tvlntegqvq elvfpqeeyp rknsiqlsak
      721 tikqnsrngv vkvvfilynn lglflstena tvklageagp ggpggaslvv nsqviaasin
      781 kessrvflmd pviftvahle dknhfnancs fwnysersml gywstqgcrl vesnkthttc
      841 acshltnfav lmahreiyqg rinelllsvi twvgivislv claicistfc flrglqtdrn
      901 tihknlcinl flaellflvg idktqyeiac pifagllhyf flaafswlcl egvhlylllv
      961 evfeseysrt kyyylggycf palvvgiaaa idyrsygtek acwlrvdnyf iwsfigpvsf
     1021 vivvnlvflm vtlhkmirss svlkpdssrl dnikswalga iallfllglt wafgllfink
     1081 esvvmaylft tfnafqgvfi fvfhcalqkk vhkeyskclr hsyccirspp ggthgslkts
     1141 amrsntryyt gtqsrirrmw ndtvrkqtes sfmagdinst ptlnrgtmgn hlltnpvlqp
     1201 rggtspyntl iaesvgfnps sppvfnspel epglafrahp clfsslfwlp pagsyrepkh
     1261 plggreacgm dtlplngnfn nsyslrsgdf ppgdggpepp rgrnladaaa fekmiiselv
     1321 hnnlrgsssa akgppppepp vppvpgggge eeaggpggad raeiellyka leeplllpra
     1381 qsvlyqsdld esesctaedg atsrplsspp grdslyasga nlrdspsypd sspegpseal
     1441 pppppappgp peiyytsrpp alvarnplqg yyqvrrpshe gylaapgleg pgpdgdgqmq
     1501 lvtsl
//
LOCUS       XP_054177238             552 aa            linear   PRI 20-MAR-2023
DEFINITION  mesoderm induction early response protein 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054177238
VERSION     XP_054177238.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321263.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..552
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..552
                     /product="mesoderm induction early response protein 2
                     isoform X1"
                     /calculated_mol_wt=60606
     CDS             1..552
                     /gene="MIER2"
                     /gene_synonym="KIAA1193; Mi-er2"
                     /coded_by="XM_054321263.1:651..2309"
                     /db_xref="GeneID:54531"
                     /db_xref="HGNC:HGNC:29210"
                     /db_xref="MIM:620092"
ORIGIN      
        1 merdnasslg rqsprvvscl ehslcpgepg lqttavvsmg sgdhqfnlae ilsqnysvrg
       61 eceeasrcpd kpkeelekdf isqsndmpfd ellalygyea sdpisdrese ggdvapnlpd
      121 mtldkeqiak dllsgeeeee tqssaddltp svtsheasdl fpnrsgsrfl adedrepgss
      181 assdteedsl pankckkeim vgpqfqadls nlhlnrhcek iyenedqllw dpsvlperev
      241 eeflyravkr rwhemagpql pegeavkdse qalyelvkcn fnveealrrl rfnvkvirdg
      301 lcawseeecr nfehgfrvhg knfhliqank vrtrsvgecv eyyylwkkse rydyfaqqtr
      361 lgrrkyvpsg ttdadqdldg sdpdgpgrpr peqdtltgmr tdplsvdgta ggldepgvas
      421 dglpssepgp csfqqldesp avplshrppa ladpasyqpa vtapepdasp rlavdfalpk
      481 elplisshvd lsgdpeetva paqvalsvte fgligigdvn pflaahptcp apglhsepls
      541 qslpcscnvm tc
//
LOCUS       XP_054177404             603 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 415 isoform X6 [Homo sapiens].
ACCESSION   XP_054177404
VERSION     XP_054177404.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321429.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..603
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..603
                     /product="zinc finger protein 415 isoform X6"
                     /calculated_mol_wt=68539
     CDS             1..603
                     /gene="ZNF415"
                     /gene_synonym="Pact; ZfLp"
                     /coded_by="XM_054321429.1:578..2389"
                     /db_xref="GeneID:55786"
                     /db_xref="HGNC:HGNC:20636"
                     /db_xref="MIM:619506"
ORIGIN      
        1 mpelytedfi qgcdvgelqe pglpgvlsyv gaqeraldhr kpstsskktk rvgmdqrcen
       61 rlecngaisa hcnlrlpdsn dspasasrva gitdlsrncv ikelapqqeg npgevfhtvt
      121 leqhekhdie efcfreikkk ihdfdcqwrd derncnkvtt apkenltcrr dqrdrrgign
      181 ksikhqlgls flphphelqq fqaegkiyec nhveksvnhg ssvsppqils stvkthvsnk
      241 cgtdficssl ltqeqkscir ekpyryiecd kalnhgshmt vrqvshsgek gykcdlcgkv
      301 fsqksnlarh wrvhtgekpy kcnecdrsfs rnsclalhrr vhtgekpykc yecdkvfsrn
      361 sclalhqkth igekpytcke cgkafsvrst ltnhqvihsg kkpykcnecg kvfsqtssla
      421 thqrihtgek pykcnecgkv fsqtsslarh wrihtgekpy kcnecgkvfs ynshlashrr
      481 vhtgekpykc necgkafsvh snltthqvih tgekpykcnq cgkgfsvhss ltthqvihtg
      541 ekpykcnecg ksfsvrpnlt rhqiihtgkk pykcsdcgks fsvrpnlfrh qiihtkekpy
      601 krn
//
LOCUS       XP_054178647             419 aa            linear   PRI 20-MAR-2023
DEFINITION  armadillo repeat-containing protein 6 isoform X1 [Homo sapiens].
ACCESSION   XP_054178647
VERSION     XP_054178647.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322672.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..419
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..419
                     /product="armadillo repeat-containing protein 6 isoform
                     X1"
                     /calculated_mol_wt=45190
     CDS             1..419
                     /gene="ARMC6"
                     /gene_synonym="R30923_1"
                     /coded_by="XM_054322672.1:375..1634"
                     /db_xref="GeneID:93436"
                     /db_xref="HGNC:HGNC:25049"
ORIGIN      
        1 mvskriaqet fdaavrenie efamgpeeav keaveqfesq gvdlsnivkt apkvsadgsq
       61 epthdilqml sdlqesvass rpqevsaylt rfcdqckqdk acrflaaqkg aypiiftawk
      121 latagdqgll lqslnalsvl tdgqpdllda qglqllvatl tqnadeadlt csgircvrha
      181 clkheqnrqd lvkagvlpll tgaithhghh tdvvreacwa lrvmtfdddi rvpfghahnh
      241 akmivqenkg lkvlieatka fldnpgilse lcgtlsrlai rnefcqevvd lgglsilvsl
      301 ladcndhqmr dqsgvqelvk qvlstlraia gnddvkdaiv raggtesiva amtqhltspq
      361 vceqscaalc flalrkpdns riivegggav aalqamkahp qkagvqltaa lsyrnrlac
//
LOCUS       XP_054178739            1408 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 536 isoform X1 [Homo sapiens].
ACCESSION   XP_054178739
VERSION     XP_054178739.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322764.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1408
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1408
                     /product="zinc finger protein 536 isoform X1"
                     /calculated_mol_wt=153421
     CDS             1..1408
                     /gene="ZNF536"
                     /coded_by="XM_054322764.1:478..4704"
                     /db_xref="GeneID:9745"
                     /db_xref="HGNC:HGNC:29025"
                     /db_xref="MIM:618037"
ORIGIN      
        1 meeaslclgv ssaepeaeph lsgpvlngqy amsqklhqit sqlshafpel hprpnpeekp
       61 pasleekahv pmsgqpmgsq mallanqlgr evdtslngrv dlqqflngqn lgimsqmsdi
      121 eddarknrky pcplcgkrfr fnsilslhmr thtgekpfkc pycdhraaqk gnlkihlrth
      181 klgnlgkgrg rvreenrllh eleerailrd kqlkgsllqp rpdlkpppha qqaplaactl
      241 alqanhsvpd vahpvpspkp asvqedavap aagfrctfck gkfkkreeld rhirilhkpy
      301 kctlcdfaas qeeelishve kahitaesaq gqgpngggeq sanefrcevc gqvfsqawfl
      361 kghmrkhkds fehccqicgr rfkepwflkn hmkvhlnkls vknkspsdpe vpvpmggmsq
      421 eahanlysry lsclqsgfmt pdkaglseps qlygkgelpm kekealgkll spissmahgv
      481 pegdkhsllg clnlvpplks scierlqaaa kaaemdpvns yqawqlmarg mamehgflsk
      541 ehplqrnhed tlanagvlfd kekreyvlvg adgskqkmpa dlvhstkvgs qrdlpskldp
      601 lessrdflsh glnqtleynl qgpgnmkekp tecpdcgrvf rtyhqvvvhs rvhkrdrkge
      661 edglhvglde rrgsgsdqes qsvsrsttpg ssnvteesgv ggglsqtgsa qedsphpssp
      721 sssdigeeag rsagvqqpal lrdrslgsam kdcpycgktf rtshhlkvhl rihtvcvhti
      781 pnrkersdly sqvvlaqppg nlkgekpykc phcdyagtqs aslkyhlerh hrerqngagp
      841 lsgqppnqdh kdemsskasl firpdilrga fkglpgidfr ggpasqqwts gvlssgdhsg
      901 qatgmssevp sdalkgtdlp sksthfseig rayqsivsng vnfqgslqaf mdsfvlsslk
      961 kekdmkdkal adppsmkvhg vdggeekpsg kssqrkseks qyepldlsvr pdaaslpgss
     1021 vtvqdsiawh gclfcaftts smelmalhlq anhlgkakrk dntigvtvnc kdqareaskm
     1081 allpslqsnk dlglsnmiss ldsasekmaq gqlketlgeq ksgawtghvd pafcnfpsdf
     1141 ykqfgvypgm vgsgassscp nkepdgkahs eedvpilipe ttsknttddl sdiassedmd
     1201 sskgenndee dvetepemmt kplsalskds ssdggdslqp tgtsqpvqgl vsplsqapek
     1261 qwhsqgllqa qdplaglpkp ergpqsldkp mnmlsvlray ssdglaafng lasstansgc
     1321 ikrpdlcghr pfqcrycpys asqkgnlkth vlcvhrmpfd nsqypdrrfk rsrvdseasg
     1381 nfeeptavka gssadlteeg gkgqeetn
//
LOCUS       XP_054196133             858 aa            linear   PRI 20-MAR-2023
DEFINITION  striated muscle preferentially expressed protein kinase isoform X22
            [Homo sapiens].
ACCESSION   XP_054196133
VERSION     XP_054196133.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340158.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..858
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..858
                     /product="striated muscle preferentially expressed protein
                     kinase isoform X22"
                     /calculated_mol_wt=93067
     CDS             1..858
                     /gene="SPEG"
                     /gene_synonym="APEG-1; APEG1; BPEG; CNM5; MYLK6;
                     SPEGalpha; SPEGbeta"
                     /coded_by="XM_054340158.1:46..2622"
                     /db_xref="GeneID:10290"
                     /db_xref="HGNC:HGNC:16901"
                     /db_xref="MIM:615950"
ORIGIN      
        1 mkklwvkkrf qktghsrraf grlthdseta eddisdvqgt qrlelrddga fstptggsdt
       61 lvgtsldtpp tsvtgtseeq vswwgsgqtv leqeagsggg trrlpgsprq aqatgagprh
      121 lgveplvras ranlvgaswg sedslsvasd lygsafslyr gralsihvsv pqsglrreep
      181 dlqpqlasea prrpaqppps ksallpppsp rvgkrsppgp paqpaatpts phrrtqepvl
      241 pedttteekr gkkskssgps lagtaesrpq tplseasgrl salgrsprlv ragsrildkl
      301 qffeerrrsl ersdsppapl rpwvplrkar sleqpkserg apwgtpgasq eelrapgsva
      361 errrlfqqka asldertrqr spasdlelrf aqelgrirrs tsreelvrsh eslratlqra
      421 psprepgepp lfsrpstpkt sravspaaaq ppspssaekp gdepgrprsr gpagrtepge
      481 gpqqevrrrd qfpltrsrai qecrspvppp aadppeartk appgrkrepp aqavrflpwa
      541 tpglegaavp qtleknragp eaekrlrrgp eedgpwgpwd rrgarsqgkg rrarptspel
      601 essddsyvsa geepleapvf eiplqnvvva pgadvllkci itanpppqvs whkdgsalrs
      661 egrlllraeg erhtlllrea raadagsyma tatnelgqat caasltvrpg gstspfsspi
      721 tsdeeylspp eefpepgetw prtptmkpsp sqnrrssdtg skapptfkvs lmdqsvregq
      781 dvimsirvqg epkpvvswlr nrqpvrpdqr rfaeeaeggl crlrilaaer gdagfytcka
      841 vneygarqce arlevrge
//
LOCUS       XP_054179349             335 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ALEX isoform X6 [Homo sapiens].
ACCESSION   XP_054179349
VERSION     XP_054179349.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323374.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..335
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..335
                     /product="protein ALEX isoform X6"
                     /calculated_mol_wt=38867
     CDS             1..335
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /coded_by="XM_054323374.1:86..1093"
                     /db_xref="GeneID:2778"
                     /db_xref="HGNC:HGNC:4392"
                     /db_xref="MIM:139320"
ORIGIN      
        1 mrilhvngfn geggeedpqa arsnsdgeka tkvqdiknnl keaietivaa msnlvppvel
       61 anpenqfrvd yilsvmnvpd fdfppefyeh akalwedegv racyersney qlidcaqyfl
      121 dkidvikqad yvpsdqdllr crvltsgife tkfqvdkvnf hmfdvggqrd errkwiqcfn
      181 dvtaiifvva sssynmvire dnqtnrlqea lnlfksiwnn rwlrtisvil flnkqdllae
      241 kvlagkskie dyfpefaryt tpedatpepg edprvtraky firdeflris tasgdgrhyc
      301 yphftcavdt enirrvfndc rdiiqrmhlr qyell
//
LOCUS       XP_054179597             256 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 74B isoform X3 [Homo sapiens].
ACCESSION   XP_054179597
VERSION     XP_054179597.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323622.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..256
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..256
                     /product="transmembrane protein 74B isoform X3"
                     /calculated_mol_wt=27420
     CDS             1..256
                     /gene="TMEM74B"
                     /gene_synonym="C20orf46"
                     /coded_by="XM_054323622.1:540..1310"
                     /db_xref="GeneID:55321"
                     /db_xref="HGNC:HGNC:15893"
ORIGIN      
        1 mppaqgyefa aakgprdelg psfpmasppg lelktlsngp qaprrsaplg pvaptregve
       61 nacfsseehe thfqnpgntr lgsspsppgg vsslprsqrd dlslhseegp alepvsrpvd
      121 ygfvsalvfl vsgillvvta yaiprearvn pdtvtareme rlemyyarlg shldrciiag
      181 lglltvggml lsvllmvslc kgelyrrrtf vpgkgsrkty gsinlrmrql ngdggqalve
      241 nevvqvsets htlqrs
//
LOCUS       XP_054180190             344 aa            linear   PRI 20-MAR-2023
DEFINITION  mitochondrial genome maintenance exonuclease 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054180190
VERSION     XP_054180190.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324215.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..344
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..344
                     /product="mitochondrial genome maintenance exonuclease 1
                     isoform X2"
                     /calculated_mol_wt=39290
     CDS             1..344
                     /gene="MGME1"
                     /gene_synonym="bA504H3.4; C20orf72; DDK1; MTDPS11"
                     /coded_by="XM_054324215.1:725..1759"
                     /db_xref="GeneID:92667"
                     /db_xref="HGNC:HGNC:16205"
                     /db_xref="MIM:615076"
ORIGIN      
        1 mkmklfqtic rqlrsskfsv esaalvafst ssyscgrkkk vnpyeevdqe kysnlvqsvl
       61 ssrgvaqtpg sveedallcg pvskhklpnq gedrrvpqnw fpifnpersd kpnasdpsvp
      121 lkiplqrnvi psvtrvlqqt mtkqqvflle rwkqrmilel gedgfkeyts nvflqgkrfh
      181 ealesilspq etlkerdenl lksgyiesvq hilkdvsgvr alesavqhet lnyiglldcv
      241 aeyqgklcvi dwktsekpkp fiqstfdnpl qvvaymgamn hdtnysfqvq cglivvaykd
      301 gspahphfmd aelcsqywtk wllrleeyte kkknqniqkp eyse
//
LOCUS       XP_054201775            1009 aa            linear   PRI 20-MAR-2023
DEFINITION  FERM domain-containing protein 4B isoform X3 [Homo sapiens].
ACCESSION   XP_054201775
VERSION     XP_054201775.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345800.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1009
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1009
                     /product="FERM domain-containing protein 4B isoform X3"
                     /calculated_mol_wt=114756
     CDS             1..1009
                     /gene="FRMD4B"
                     /gene_synonym="6030440G05Rik; GRSP1"
                     /coded_by="XM_054345800.1:855..3884"
                     /db_xref="GeneID:23150"
                     /db_xref="HGNC:HGNC:24886"
                     /db_xref="MIM:617467"
ORIGIN      
        1 mtegrhcqvh llddrrlell vqpkllarel ldlvashfnl kekeyfgitf iddtgqqnwl
       61 qldhrvldhd lpkkpgptil hfavrfyies isflkdkttv elfflnakac vhkgqieves
      121 etifklaafi lqeakgdyts denarkdlkt lpafptktlq ehpslayced rviehylkik
      181 gltrgqavvq ymkivealpt ygvhyyavkd kqglpwwlgi sykgigqydi qdkvkprklf
      241 qwkqlenlyf rekkfavevh dprrisvsrr tfgqsglfvq twyansslik siwvmaisqh
      301 qfyldrkqsk akipsarsld eiamdltetg tqrasklvtl eaksqfimas ngslissgsq
      361 dsevseeqkr ekilelkkke kllqekllkk veelkkiclr eaeltgkmpk eyplnigekp
      421 pqvrrrvgta fklddnllps eedpalqele snfliqqklv eaakklanep dlcktvkkkr
      481 kqdytdamkk lqeienaine yrircgkkps qkatvlpedi ipsessslsd tttyddpsda
      541 ftfpgqrsss vphsprilpp kslgierihf rkssineqfv dtrqsremls thsspyktle
      601 rrpqggrsmp ttpvltrnay ssshlepess sqhcrqrsgs lesqshllse mdsdkpffsl
      661 sksqrssste ilddgssyts qssteyycvt pvtgpyyttq tldtrtrgrr rskkqnvsts
      721 nsgsmpnlaq kdslrngvys ksqeppsssy yiagytpyae cdfyysggyv yendtegqys
      781 vnpsyrssah ygyerqrdys rsfhedevdr vphnpyatlr lprkaaakse hitknihkal
      841 vaehlrgwyq rasgqkdqgh spqtsfdsdr gsqrclgfag lqvpcspssr aslyssvsst
      901 nasgnwrtql tiglsdyetp ahssytscyg nvynplpsps rqnqgllspr mvvspevrsv
      961 vnslllsvas cnntqksvnw mvqmetswkt twrvvsrdsf gmkiqsleh
//
LOCUS       XP_054202093             425 aa            linear   PRI 20-MAR-2023
DEFINITION  protein mono-ADP-ribosyltransferase TIPARP isoform X2 [Homo
            sapiens].
ACCESSION   XP_054202093
VERSION     XP_054202093.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346118.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..425
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..425
                     /product="protein mono-ADP-ribosyltransferase TIPARP
                     isoform X2"
                     /calculated_mol_wt=48352
     CDS             1..425
                     /gene="TIPARP"
                     /gene_synonym="ARTD14; PARP7; pART14"
                     /coded_by="XM_054346118.1:249..1526"
                     /db_xref="GeneID:25976"
                     /db_xref="HGNC:HGNC:23696"
                     /db_xref="MIM:612480"
ORIGIN      
        1 memettepep dcvvqppspp ddfscqmrls ekitplktcf kkkdqkrlgt gtlrslrpil
       61 ntllesgsld gvfrsrnqst denslhepmm kkameinssc ppaennmsvl ipdrtnvgdq
      121 ipeahpstea pervvpiqdh sfpsetlsgt vadstpahfq tdllhpvssd vptspdcldk
      181 vidyvpgifq ensftiqyil dtsdklstel fqdkseeasl dlvfelvnql qyhthqengi
      241 eicmdflqgt ciygrdclkh htvlpyhwqi krtttqkwqs vfndsqehle rfycnpendr
      301 mrmkyglqnf aeqrlplhlh eanfqsaeyf silrccvswq qdadngmlsl aerftnkleq
      361 prftwlphyl akainlcgqa ckaglsvqia hnqevcvqlc icrswnqqsl dseimngscl
      421 shcfq
//
LOCUS       XP_054202883             265 aa            linear   PRI 20-MAR-2023
DEFINITION  DCN1-like protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054202883
VERSION     XP_054202883.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346908.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..265
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..265
                     /product="DCN1-like protein 1 isoform X3"
                     /calculated_mol_wt=30820
     CDS             1..265
                     /gene="DCUN1D1"
                     /gene_synonym="DCNL1; DCUN1L1; RP42; SCCRO; SCRO; Tes3"
                     /coded_by="XM_054346908.1:132..929"
                     /db_xref="GeneID:54165"
                     /db_xref="HGNC:HGNC:18184"
                     /db_xref="MIM:605905"
ORIGIN      
        1 miftqssekt avsclsqndw kldvatdnff qnpelyires vkgsldrkkl eqlynrykdp
       61 qdenkigidg iqqfcddlal dpasisvlii awkfraatqc efskqefmdg mtelgcdsie
      121 klkaqipkme qelkepgrfk dfyqftfnfa knpgqkgldl emaiaywnlv lngrfkfldl
      181 wnkfllehhk rsipkdtwnl lldfstmiad dmsnydeeeg llplwhicqr ngkkwsqtei
      241 haslitegst alkrrifnph rknka
//
LOCUS       XP_054205345             232 aa            linear   PRI 20-MAR-2023
DEFINITION  DCN1-like protein 4 isoform X2 [Homo sapiens].
ACCESSION   XP_054205345
VERSION     XP_054205345.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349370.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..232
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..232
                     /product="DCN1-like protein 4 isoform X2"
                     /calculated_mol_wt=27312
     CDS             1..232
                     /gene="DCUN1D4"
                     /gene_synonym="DCNL4"
                     /coded_by="XM_054349370.1:176..874"
                     /db_xref="GeneID:23142"
                     /db_xref="HGNC:HGNC:28998"
                     /db_xref="MIM:612977"
ORIGIN      
        1 mpprkkrrpa sgddlsakks rhdsmyrkyd strikteeea fsskrclewf yeyagtddvv
       61 gpegmekfce digvepenvv mlvlawklda qnmgyftlqe wlkgmtslqc dtteklrntl
      121 dylrsflnds tnfkliyrya fdfarekdqr sldintakcm lglllgkiwp lfpvfhqfle
      181 qskykvinkd qwcnvlefsr tinldlsnyd edgawpvlld efvewykdkq ms
//
LOCUS       XP_054205802             779 aa            linear   PRI 20-MAR-2023
DEFINITION  glutamate receptor ionotropic, delta-2 isoform X10 [Homo sapiens].
ACCESSION   XP_054205802
VERSION     XP_054205802.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349827.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..779
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..779
                     /product="glutamate receptor ionotropic, delta-2 isoform
                     X10"
                     /calculated_mol_wt=87440
     CDS             1..779
                     /gene="GRID2"
                     /gene_synonym="GluD2; SCAR18"
                     /coded_by="XM_054349827.1:219..2558"
                     /db_xref="GeneID:2895"
                     /db_xref="HGNC:HGNC:4576"
                     /db_xref="MIM:602368"
ORIGIN      
        1 mvvetnlvaf dchwiiinee indvdvqelv rrsigrltii rqtfpvpqni sqrcfrgnhr
       61 isstlcdpkd pfaqnmeisn lyiydtvlll anafhkkled rkwhsmasls cirknskpwq
      121 ggrsmletik kggvsgltge lefgenggnp nvhfeilgtn ygeelgrgvr knerirpqgs
      181 tgkiwpqlgc wnpvtglngs ltdkklennm rgvvlrvvtv leepfvmvse nvlgkpkkyq
      241 gfsidvldal snylgfnyei yvapdhkygs pqedgtwngl vgelvfkrad igisaltitp
      301 drenvvdftt rymdysvgvl lrraektvdm faclapfdls lwaciagtvl lvgllvylln
      361 wlnpprlqmg smtsttlyns mwfvygsfvq qggevpyttl atrmmmgaww lfalivissy
      421 tanlaaflti triessiqsl qdlskqteip ygtvldsavy ehvrmkglnp ferdsmysqm
      481 wrminrsngs ennvlesqag iqkvkygnya fvwdaavley vaindpdcsf ytigntvadr
      541 gygialqhgs pyrdvfsqri lelqqngdmd ilkhkwwpkn gqcdlyssvd tkqkggaldi
      601 ksfagvfcil aagivlscfi amletwwnkr kgsrvpsked dkeidlehlh rrvnslctdd
      661 dsphkqfsts sidltpldid tlptrqaleq isdfrnthit tttfipeqiq tlsrtlsaka
      721 asgftfgnvp ehrtgpfrhr apnggffrsp iktmssipyq ptptlglnlg ndpdrgtsi
//
LOCUS       XP_054208965            2362 aa            linear   PRI 20-MAR-2023
DEFINITION  teneurin-2 isoform X25 [Homo sapiens].
ACCESSION   XP_054208965
VERSION     XP_054208965.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352990.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2362
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2362
                     /product="teneurin-2 isoform X25"
                     /calculated_mol_wt=262518
     CDS             1..2362
                     /gene="TENM2"
                     /gene_synonym="ODZ2; ten-2; TEN-M2; TEN2; TNM2"
                     /coded_by="XM_054352990.1:671..7759"
                     /db_xref="GeneID:57451"
                     /db_xref="HGNC:HGNC:29943"
                     /db_xref="MIM:610119"
ORIGIN      
        1 mhllglnwql qpadghtfnn girtglpgnd dvatmpsggk vpwslknssi dsgeaevgrr
       61 vtqevppgvf wrsqihisqp qflkfnislg kdalfgvyir rglppshaqy dfmerldgke
      121 kwsvvespre rrsiqtlvqn eavfvqyldv glwhlafynd gkdkemvsfn tvvldsvqdc
      181 prnchgngec vsgvchcfpg flgadcakaa cpvlcsgngq yskgtcqcys gwkgaecdvp
      241 mnqcidpscg ghgscidgnc vcsagykgeh ceevdcldpt csshgvcvng eclcspgwgg
      301 lncelarvqc pdqcsghgty lpdtglcscd pnwmgpdcsv evcsvdcgth gvciggacrc
      361 eegwtgaacd qrvchprcie hgtckdgkce cregwngehc tidgcpdlcn gngrctlgqn
      421 swqcvcqtgw rgpgcnvame tscadnkdne gdglvdcldp dcclqsacqn sllcrgsrdp
      481 ldiiqqgqtd wpavksfydr ikllagkdst hiipgenpfn sslvslirgq vvttdgtplv
      541 gvnvsfvkyp kygytitrqd gtfdliangg asltlhfera pfmsqertvw lpwnsfyamd
      601 tlvmkteens ipscdlsgfv rpdpiiissp lstffsaapg qnpivpetqv lheeielpgs
      661 nvklrylssr tagyksllki tmtqstvpln lirvhlmvav eghlfqksfq aspnlaytfi
      721 wdktdaygqr vyglsdavvs vgfeyetcps lilwekrtal lqgfeldpsn lggwsldkhh
      781 ilnvksgilh kgtgenqflt qqpaiitsim gngrrrsisc pscnglaegn kllapvalav
      841 gidgslyvgd fnyirrifps rnvtsilelr nnpahkyyla vdpvsgslyv sdtnsrriyr
      901 vkslsgtkdl agnsevvagt geqclpfdea rcgdggkaid atlmsprgia vdknglmyfv
      961 datmirkvdq ngiistllgs ndltavrpls cdssmdvaqv rlewptdlav npmdnslyvl
     1021 ennvilrite nhqvsiiagr pmhcqvpgid yslsklaihs alesasaiai shtgvlyite
     1081 tdekkinrlr qvttngeicl lagaasdcdc kndvncncys gddayatdai lnspsslava
     1141 pdgtiyiadl gniriravsk nkpvlnafnq yeaaspgeqe lyvfnadgih qytvslvtge
     1201 ylynftystd ndvtelidnn gnslkirrds sgmprhllmp dnqiitltvg tngglkvvst
     1261 qnlelglmty dgntgllatk sdetgwttfy dydhegrltn vtrptgvvts lhremeksit
     1321 idiensnrdd dvtvitnlss veasytvvqd qvrnsyqlcn ngtlrvmyan gmgisfhsep
     1381 hvlagtitpt igrcnislpm englnsiewr lrkeqikgkv tifgrklrvh grnllsidyd
     1441 rnirtekiyd dhrkftlrii ydqvgrpflw lpssglaavn vsyffngrla glqrgamser
     1501 tdidkqgriv srmfadgkvw sysyldksmv lllqsqrqyi feydssdrll avtmpsvarh
     1561 smsthtsigy irniynppes nasvifdysd dgrilktsfl gtgrqvfyky gklsklseiv
     1621 ydstavtfgy dettgvlkmv nlqsggfsct iryrkigplv dkqiyrfsee gmvnarfdyt
     1681 yhdnsfrias ikpvisetpl pvdlyrydei sgkvehfgkf gviyydinqi ittavmtlsk
     1741 hfdthgrike vqyemfrslm ywmtvqydsm grvikrelkl gpyanttkyt ydydgdgqlq
     1801 svavndrptw rysydlngnl hllnpgnsvr lmplrydlrd ritrlgdvqy kidddgylcq
     1861 rgsdifeyns kglltraynk asgwsvqyry dgvgrrasyk tnlghhlqyf ysdlhnptri
     1921 thvynhsnse itslyydlqg hlfamesssg eeyyvasdnt gtplavfsin glmikqlqyt
     1981 aygeiyydsn pdfqmvigfh gglydpltkl vhftqrdydv lagrwtspdy tmwknvgkep
     2041 apfnlymfks nnplsseldl knyvtdvksw lvmfgfqlsn iipgfprakm yfvpppyels
     2101 esqasengql itgvqqtter hnqafmaleg qvitkklhas irekaghwfa tttpiigkgi
     2161 mfaikegrvt tgvssiased srkvasvlnn ayyldkmhys iegkdthyfv kigsadgdlv
     2221 tlgttigrkv lesgvnvtvs qptllvngrt rrftniefqy stlllsiryg ltpdtldeek
     2281 arvldqarqr algtawakeq qkardgregs rlwtegekqq llstgrvqgy egyyvlpveq
     2341 ypeladsssn iqflrqnemg kr
//
LOCUS       XP_054209221             528 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 12 member 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054209221
VERSION     XP_054209221.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353246.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..528
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..528
                     /product="solute carrier family 12 member 2 isoform X3"
                     /calculated_mol_wt=54537
     CDS             1..528
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /coded_by="XM_054353246.1:190..1776"
                     /db_xref="GeneID:6558"
                     /db_xref="HGNC:HGNC:10911"
                     /db_xref="MIM:600840"
ORIGIN      
        1 meprptapss gapglagvge tpsaaalaaa rvelpgtavp svpedaapas rdgggvrdeg
       61 paaagdglgr plgptpsqsr fqvdlvsena graaaaaaaa aaaaaaagag agakqtpadg
      121 easgesepak gseeakgrfr vnfvdpaass saedslsdaa gvgvdgpnvs fqnggdtvls
      181 egsslhsggg ggsghhqhyy ydthtntyyl rtfghntmda vpridhyrht aaqlgekllr
      241 pslaelhdel ekepfedgfa ngeestptrd avvtytaesk gvvkfgwikg vlvrcmlniw
      301 gvmlfirlsw ivgqagigls vlvimmatvv ttitglstsa iatngfvrgg gayylisrsl
      361 gpefggaigl ifafanavav amyvvgfaet vvellkehsi lmideindir iigaitvvil
      421 lgisvagmew eakaqivllv illlaigdfv igtfiplesk kpkgffgyks eifnenfgpd
      481 freeetffsv faiffpaatg ilaganisgd lavlvlfemp letlmtls
//
LOCUS       XP_054209381             198 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 192 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054209381
VERSION     XP_054209381.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353406.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..198
                     /product="coiled-coil domain-containing protein 192
                     isoform X6"
                     /calculated_mol_wt=21821
     CDS             1..198
                     /gene="CCDC192"
                     /gene_synonym="LINC01183"
                     /coded_by="XM_054353406.1:2..598"
                     /db_xref="GeneID:728586"
                     /db_xref="HGNC:HGNC:49566"
ORIGIN      
        1 mpvdvcprdr gsqwvwlemg qcyskksvvp esdtserssm tsgssesdip qenkvskasl
       61 dtgqmaftla qlesleiclk eaeekakals eqlsvsegtk sklleqvsrl eekleavdhk
      121 easggpyekm vlvkdqciqk lqaevkasqe qliaqklkhe kkvkklqtdl atanaitvle
      181 lnekiktlye gkpaprgk
//
LOCUS       XP_054209872             700 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear pore complex protein Nup155 isoform X3 [Homo sapiens].
ACCESSION   XP_054209872
VERSION     XP_054209872.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353897.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..700
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..700
                     /product="nuclear pore complex protein Nup155 isoform X3"
                     /calculated_mol_wt=76176
     CDS             1..700
                     /gene="NUP155"
                     /gene_synonym="ATFB15; N155"
                     /coded_by="XM_054353897.1:130..2232"
                     /db_xref="GeneID:9631"
                     /db_xref="HGNC:HGNC:8063"
                     /db_xref="MIM:606694"
ORIGIN      
        1 mpssllgaam pastsaaalq ealenagrli drqlqedrmy pdlsellmvs apnnptvsgm
       61 sdmdyplqgp gllsvpnlpe issirrvplp pelveqfghm qcncmmgvfp pisrawltid
      121 sdifmwnyed ggdlayfdgl setilavglv kpkagifqph vrhllvlatp vdivilglsy
      181 anlqtgsgvl ndslsggmql lpdplyslpt dntylltits tdngriflag kdgclyevay
      241 qaeagwfsqr crkinhskss lsflvpsllq ftfseddpil qiaidnsrni lytrsekgvi
      301 qvydlgqdgq gmsrvasvsq naivsaagni artidrsvfk pivqiavien sesldcqlla
      361 vthagvrlyf stcpfrqpla rpntltlvhv rlppgfsass tvekpskvhr alyskgillm
      421 aasenedndi lwcvnhdtfp fqkpmmetqm tagvdghswa lsaidelkvd kiitplnkdh
      481 ipitdspvvv qqhmlppkkf vllsaqgslm fhklrpvdql rhllvsnvgg dgeeierffk
      541 lhqedqacat clilacstaa cdrevsawat raffryggea qmrfpttlpp psnvgpilgs
      601 pvyssspvps gspypnpsfl gtpshgiqpp amstpvcalg npatqatnms cvtgpeivys
      661 gkhngiciyf srimgniwda slvverifks gnreitayyc
//
LOCUS       XP_054214288             245 aa            linear   PRI 20-MAR-2023
DEFINITION  origin recognition complex subunit 5 isoform X1 [Homo sapiens].
ACCESSION   XP_054214288
VERSION     XP_054214288.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358313.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..245
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..245
                     /product="origin recognition complex subunit 5 isoform X1"
                     /calculated_mol_wt=28440
     CDS             1..245
                     /gene="ORC5"
                     /gene_synonym="ORC5L; ORC5P; ORC5T; PPP1R117"
                     /coded_by="XM_054358313.1:110..847"
                     /db_xref="GeneID:5001"
                     /db_xref="HGNC:HGNC:8491"
                     /db_xref="MIM:602331"
ORIGIN      
        1 mphlenvvlc resqvsilqs lfgerhhfsf psifiyghta sgktyvtqtl lktlelphvf
       61 vncvecftlr llleqilnkl nhlsssedgc steitcetfn dfvrlfkqvt taenlkdqtv
      121 yivldkaeyl rdmeanllpg flrlqeladr nvtvlflsei vwekfrpntg cfepfvlyfp
      181 dysignlqki lshdhppeys adfyaayini llgvfytvcr dlkelrhlkm qnsikikmrn
      241 nrkem
//
LOCUS       XP_054214485             454 aa            linear   PRI 20-MAR-2023
DEFINITION  pseudouridylate synthase 7 homolog isoform X4 [Homo sapiens].
ACCESSION   XP_054214485
VERSION     XP_054214485.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358510.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..454
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..454
                     /product="pseudouridylate synthase 7 homolog isoform X4"
                     /calculated_mol_wt=51049
     CDS             1..454
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /coded_by="XM_054358510.1:253..1617"
                     /db_xref="GeneID:54517"
                     /db_xref="HGNC:HGNC:26033"
                     /db_xref="MIM:616261"
ORIGIN      
        1 memtemtgvs lkrgalvved ndsgvpveet kkqklsecsl tkgqdglqnd flsisedvpr
       61 ppdtvstgkg gknseaqled eeeeeedgls eeceeeeses fadmmkhglt eadvgitkfv
      121 sshqgfsgil kerysdfvvh eigkdgrish lndlsipvde edpsediftv ltaeekqrle
      181 elqlfknket svaieviedt kekrtiihqa ikslfpglet ktedregkky ivayhaagkk
      241 alakvrtaad prkhswpksr gsychfvlyk enkdtmdain vlskylrvkp nifsymgtkd
      301 kraitvqeia vlkitaqrla hlnkclmnfk lgnfsyqknp lklgelqgnh ftvvlrnitg
      361 tddqvqqamn slkeigfiny ygmqrfgtta vptyqvgrai lqnswtevmd lilkprsgae
      421 kgylvkcree waktkdptaa lrklpvkryp eiia
//
LOCUS       XP_054214719             634 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase N2 isoform X8 [Homo
            sapiens].
ACCESSION   XP_054214719
VERSION     XP_054214719.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358744.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..634
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..634
                     /product="receptor-type tyrosine-protein phosphatase N2
                     isoform X8"
                     /calculated_mol_wt=68443
     CDS             1..634
                     /gene="PTPRN2"
                     /gene_synonym="IA-2beta; IAR; ICAAR; PTPRP; R-PTP-N2"
                     /coded_by="XM_054358744.1:155..2059"
                     /db_xref="GeneID:5799"
                     /db_xref="HGNC:HGNC:9677"
                     /db_xref="MIM:601698"
ORIGIN      
        1 mgpplpllll lllllpprvl paapssvprg rqlpgrlgcl leeglcgase acvndgvfgr
       61 cqkvpamdfy ryevspvalq rlrvalqkls gtgftwqddy tqyvmdqela dlpktylrrp
      121 eassparpsk hsvgserryt reggaalana lrrhlpflea lsqapasdvl arthtaqdrp
      181 paegddrfse siltyvahts altyppgprt qlredllprt lgqlqpdels pkvdsgvdrh
      241 hlmaalsaya aqrppappge gslepqyllr apsrmprpll apaapqkwps plgdsedpss
      301 tgdgarihtl lkdlqrqpae vrglsgleld gmaelmaglm qgvdhgvarg spgraalges
      361 geqadgpkat lrgdsfpddg vqddddrlyq evhrlsatlg gllqdhgsrl lpgalpfarp
      421 ldmerkkseh pesslsseee tagvenvksq tyskdllgqq phsepgaaaf gelqnqmpgp
      481 skeeqslpag aqealsdglq levqpseeea rgyivtdrev lgpavtfkvs anvqnvtted
      541 vekatarecq ssegpflkiy mmihtarlas espgpvivln kegtahhqas dlsartafyv
      601 falldkspwv rmsglnarws aepkgstewh ldpt
//
LOCUS       XP_054214831             346 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 13 member 1 isoform X6 [Homo sapiens].
ACCESSION   XP_054214831
VERSION     XP_054214831.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358856.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..346
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..346
                     /product="solute carrier family 13 member 1 isoform X6"
                     /calculated_mol_wt=39004
     CDS             1..346
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /coded_by="XM_054358856.1:47..1087"
                     /db_xref="GeneID:6561"
                     /db_xref="HGNC:HGNC:10916"
                     /db_xref="MIM:606193"
ORIGIN      
        1 mkffsyilvy rrflfvvftv lvllplpivl htkeaecayt lfvvatfwlt ealplsvtal
       61 lpslmlpmfg impskkvasa yfkdfhllli gviclatsie kwnlhkrial kmvmmvgvnp
      121 awltlgfmss taflsmwlsn tstaamvmpi aeavvqqiin aeaeveatqm tyfngstnhg
      181 leidesvngh einerkektk pvpgynndtg kisskvelek eeeesnqqrv ftgswvrkrm
      241 klllaytles hllnktltfg lvipqvkpfq dvplsknsgm rtkyrtkkgh vtrkltclci
      301 aysstigglt titgtstnli faeyfntfhp hrrgdrtrhv hqeaei
//
LOCUS       XP_047300985             213 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124901803 [Homo sapiens].
ACCESSION   XP_047300985
VERSION     XP_047300985.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047445029.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 13% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..213
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..213
                     /product="uncharacterized protein LOC124901803"
                     /calculated_mol_wt=23130
     CDS             1..213
                     /gene="LOC124901803"
                     /coded_by="XM_047445029.1:1..642"
                     /db_xref="GeneID:124901803"
ORIGIN      
        1 matepclwhs rlsgwqpcrs kpgsplarva afwsvlpgll qelrpdqwpp tnfikrdsdd
       61 avqarlrttp stawsspweg rqgrepllpp aatlsrkvvf sgtlvqqtal eerervslrs
      121 sgqvcllpvi kdsgslttgs spamhtaacr gtspsshppt gagaqepwct dmlaltlhyw
      181 gviktfvsdp gvscplpafm klwvatsfir kdl
//
LOCUS       XP_054215771             192 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding Raly-like protein isoform X6 [Homo sapiens].
ACCESSION   XP_054215771
VERSION     XP_054215771.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359796.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..192
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..192
                     /product="RNA-binding Raly-like protein isoform X6"
                     /calculated_mol_wt=21407
     CDS             1..192
                     /gene="RALYL"
                     /gene_synonym="HNRPCL3"
                     /coded_by="XM_054359796.1:1161..1739"
                     /db_xref="GeneID:138046"
                     /db_xref="HGNC:HGNC:27036"
                     /db_xref="MIM:614648"
ORIGIN      
        1 magepkpyrp kpgnkrplsa lysgyvfdyd yyrddfynrl fdyhgrvppp praviplkrp
       61 rvavtttrrg kgvfsmkggs rstasgstgs klksdelqti kkeltqiktk idsllgrlek
      121 iekqqkaeae aqkkqleesl vliqeecvse iadhsteepa eggpdadgee mtdgieedfd
      181 edgghelflq ik
//
LOCUS       XP_054216558             373 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of microtubule dynamics protein 1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054216558
VERSION     XP_054216558.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360583.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..373
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..373
                     /product="regulator of microtubule dynamics protein 1
                     isoform X4"
                     /calculated_mol_wt=42346
     CDS             1..373
                     /gene="RMDN1"
                     /gene_synonym="CGI-90; FAM82B; RMD-1; RMD1"
                     /coded_by="XM_054360583.1:102..1223"
                     /db_xref="GeneID:51115"
                     /db_xref="HGNC:HGNC:24285"
                     /db_xref="MIM:611871"
ORIGIN      
        1 malaarlwrl lpfrrgaapg srlpagtsgs rghcgpcrfr gfevppwswl plltsysvmg
       61 npgtfkrgll lsalsylgfe tyqvisqaav vhatakveei leqadylyes geteklyqll
      121 tqykesedae llwrlarasr dvaqlsrtse eekkllvyea leyakralek nessfashkw
      181 yaiclsdvgd yegikakian ayiikehfek aielnpkdat sihlmgiwcy tfaempwyqr
      241 riakmlfatp psstyekalg yfhraeqgkt ylklhnkkla afwlmkakdy pahteedkqe
      301 pdsprvtlvr dvsplrvrpi tenkpqeslt fsfpcsphli vlvwipelta glrclfphvh
      361 vyqrfcvasp sas
//
LOCUS       XP_054216900            1663 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor B1 isoform X1 [Homo sapiens].
ACCESSION   XP_054216900
VERSION     XP_054216900.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360925.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1663
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1663
                     /product="adhesion G protein-coupled receptor B1 isoform
                     X1"
                     /calculated_mol_wt=181323
     CDS             1..1663
                     /gene="ADGRB1"
                     /gene_synonym="BAI1; GDAIF"
                     /coded_by="XM_054360925.1:676..5667"
                     /db_xref="GeneID:575"
                     /db_xref="HGNC:HGNC:943"
                     /db_xref="MIM:602682"
ORIGIN      
        1 mrgqaaapgp vwilapllll llllgrrara aagadagpgp epcatlvqgk ffgyfsaaav
       61 fpanasrcsw tlrnpdprry tlymkvakap vpcsgpgrvr tyqfdsfles trtylgvesf
      121 devlrlcdps aplaflqask qflqmrrqqp pqhdglrpra gppgptddfs veylvvgnrn
      181 psraacqmlc rwldaclags rsshpcgimq tpcaclggea ggpaagplap rgdvclrdav
      241 aggpenclts ltqdrgghga tggwklwslw gectrdcggg lqtrtrtclp apgvegggce
      301 gvleegrqcn reacgpagrt ssrsqslrst darrreelgd elqqfgfpap qtgdpaaeew
      361 spwsvcsstc gegwqtrtrf cvsssystqc sgplreqrlc nnsavcpvhg awdewspwsl
      421 csstcgrgfr drtrtcrppq fggnpcegpe kqtkfcnial cpgravdgnw newsswsacs
      481 ascsqgrqqr trecngpsyg gaecqghwve trdcflqqcp vdgkwqawas wgscsvtcga
      541 gsqrrervcs gpffggaacq gpqdeyrqcg tqrcpephei cdednfgavi wketpageva
      601 avrcprnatg lilrrcelde egiayweppt yircvsidyr niqmmtrehl akaqrglpge
      661 gvseviqtlv eisqdgtsys gdllstidvl rnmteifrra yysptpgdvq nfvqilsnll
      721 aeenrdkwee aqlagpnake lfrlvedfvd vigfrmkdlr dayqvtdnlv lsihklpasg
      781 atdisfpmkg wratgdwakv pedrvtvsks vfstgltead easvfvvgtv lyrnlgsfla
      841 lqrnttvlns kvisvtvkpp prslrtplei efahmyngtt nqtcilwdet dvpsssappq
      901 lgpwswrgcr tvpldalrtr clcdrlstfa ilaqlsadan mekatlpsvt livgcgvssl
      961 tllmlviiyv svwryirser svilinfcls iissnalili gqtqtrnkvv ctlvaaflhf
     1021 fflssfcwvl teawqsymav tghlrnrlir krflclgwgl palvvaisvg ftkakgystm
     1081 nycwlslegg llyafvgpaa avvlvnmvig ilvfnklvsk dgitdkklke ragqppphpl
     1141 gralkcaecg vlsaadatsd atsnamaslw sscvvlplla ltwmsavlav tdrrsalfqi
     1201 lfavfdsleg fvivmvhcil rrevqdavkc rvvdrqeegn gdsggsfqng haqlmtdfek
     1261 dvdlacrsgp eavtgsgfls cgeangpcsl wsfrylkstf srdspgrgag tapvlnkdia
     1321 acrtatitgt lkrpslpeee klklahakgp ptnfnslpan vsklhlhgsp rypggplpdf
     1381 pnhsltlkrd kapkssfvgd gdifkkldse lsraqekald tsyvilptat atlrpkpkee
     1441 pkysihidqm pqtrlihlst apeaslpars ppsrqppsgg ppeappaqpp pppppppppp
     1501 qqplppppnl epappslgdp gepaahpgps tgpstknenv atlsvssler rksryaeldf
     1561 ekimhtrkrh qdmfqdlnrk lqhaaekdke vlgpdskqpe kqqtpnkrpw eslrkahgtp
     1621 twvkkelepl qpsplelrsv ewersgatip lvgqdiidlq tev
//
LOCUS       XP_054218554            1001 aa            linear   PRI 20-MAR-2023
DEFINITION  rab GTPase-activating protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054218554
VERSION     XP_054218554.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362579.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1001
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1001
                     /product="rab GTPase-activating protein 1 isoform X2"
                     /calculated_mol_wt=114453
     CDS             1..1001
                     /gene="RABGAP1"
                     /gene_synonym="GAPCENA; TBC1D11"
                     /coded_by="XM_054362579.1:420..3425"
                     /db_xref="GeneID:23637"
                     /db_xref="HGNC:HGNC:17155"
                     /db_xref="MIM:615882"
ORIGIN      
        1 mdppmddqpg ekelvkrsql dgegdgplsn qlsasstinp vplvglqkpe mslpvkpgqg
       61 dseasspftp vadedsvvfs kltylgcasv naprseveal rmmsilrsqc qisldvtlsv
      121 pnvsegivrl ldpqtnteia nypiykilfc vrghdgtpes dcfafteshy naelfrihvf
      181 rceiqeavsr ilysfatafr rsakqtplsa taapqtpdsd iftfsvslei keddgkgyfs
      241 avpkdkdrqc fklrqgidkk iviyvqqttn kelaiercfg lllspgkdvr nsdmhlldle
      301 smgkssdgks yvitgswnpk sphfqvvnee tpkdkvlfmt tavdlvitev qepvrfllet
      361 kvrvcspner lfwpfskrst tenfflklkq ikqrerknnt dtlyevvcle sesererrkt
      421 taspsvrlpq sgsqssvips ppeddeeedn depllsgsgd vskecaekil etwgellskw
      481 hlnlnvrpkq lsslvrngvp ealrgevwql lagchnndhl vekyrilitk espqdsaitr
      541 dinrtfpahd yfkdtggdgq dslykickay svydeeigyc qgqsflaavl llhmpeeqaf
      601 svlvkimfdy glrelfkqnf edlhckfyql erlmqeyipd lynhfldisl eahmyasqwf
      661 ltlftakfpl ymvfhiidll lcegisvifn valgllktsk ddllltdfeg alkffrvqlp
      721 kryrseenak klmelacnmk isqkklkkye keyhtmreqq aqqedpierf erenrrlqea
      781 nmrleqendd lahelvtski alrkdldnae ekadalnkel lmtkqklida eeekrrleee
      841 saqlkemcrr eldkaeseik knssiigdyk qicsqlserl ekqqtankve iekirqkvdd
      901 cercreffnk egrvkgisst kevldedtde eketlknqlr emelelaqtk lqlveaecki
      961 qdlehhlgla lnevqaakkt wfnrtlssik tatgvqgket c
//
LOCUS       XP_054219420            2566 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 462 isoform X2 [Homo sapiens].
ACCESSION   XP_054219420
VERSION     XP_054219420.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363445.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2566
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2566
                     /product="zinc finger protein 462 isoform X2"
                     /calculated_mol_wt=290963
     CDS             1..2566
                     /gene="ZNF462"
                     /gene_synonym="WSKA; Zfp462; ZFPIP"
                     /coded_by="XM_054363445.1:221..7921"
                     /db_xref="GeneID:58499"
                     /db_xref="HGNC:HGNC:21684"
                     /db_xref="MIM:617371"
ORIGIN      
        1 mevlqcdgcd frapsyedlk ahiqdvhtaf lqptdvaedn vnelrcgsvn asnqtevefs
       61 sikdefaiae dlsgqnatsl gtggyyghsp gyygqhiaan pkptnkffqc kfcvryfrsk
      121 nlliehtrkv hgaqaegsss gppvpgslny nimmhegfgk vfscqfctyk sprrariikh
      181 qkmyhknnlk ettapppapa pmpdpvvppv slqdpckelp aevversile smvkpltksr
      241 gnfccewcsy qtprrerwcd hmmkkhrsmv kilsslrqqq egtnlpdvpn ksapsptsns
      301 tyltmnaasr eipnttvsnf rgsmgnsimr pnssaskfsp msypqmkpks phnsglvnlt
      361 ersrygmtdm tnssadletn smlndsssde elneidseng lsamdhqtsg lsaeqlmgsd
      421 gnklletkgi pfrrfmnrfq cpfcpfltmh rrsisrhien ihlsgktavy kcdecpftck
      481 sslklgahkq chtgttsdwd avnsqsesis sslnegvvsy esssingrks gvmldplqqq
      541 qppqpppppp ppppsqpqpl qqpqppqlqp phqvppqpqt qppptqqpqp ptqaaplhpy
      601 kctmcnystt tlkglrvhqq hkhsfcdnlp kfegqpsslp lenetdshps ssntvkksqt
      661 silglssknn fvakasrkla ndfpldlspv kkrtrideia snlqskinqt kqqedavinv
      721 eddeeeeedn eveieveldr eeeptepiie vptsfsaqqi wvrdtsepqk epnfrnithd
      781 ynatngaeie ltlsedeedy ygsstnlkdh qvsntallnt qtpiygtehn sentdfgdsg
      841 rlyyckhcdf nnksarsvst hyqrmhpyik fsfryildpn dhsavyrcle cyidytnfed
      901 lqqhygehhp eamnvlnfdh sdliyrcrfc sytspnvrsl mphyqrmhpt vkinnamifs
      961 syvveqqegl ntesqtlrei lnsapknmat stpvargggl patfnkntpk tftpecenqk
     1021 dplvntvvvy dcdvcsfasp nmhsvlvhyq kkhpeekasy friqktmrmv svdrgsalsq
     1081 lsfevgapms pkmsnmgspp ppqppppdls telyyckhcs ysnrsvvgvl vhyqkrhpei
     1141 kvtakyirqa pptaammrgv egpqgsprpp apiqqlnrss serdgppven emffcqhcdy
     1201 gnrtvkgvli hyqkkhrdfk anadvirqht atirslcdrn qkkpascvlv spsnlerdkt
     1261 klralkcrqc sytspyfyal rkhikkdhpa lkatvtsimr wafldgliea gyhcewciys
     1321 htepnglllh yqrrhpehyv dytymatklw agpdpsppsl tmpaeaktyr crdcvfeavs
     1381 iwditnhyqa fhpwamngde svlldiikek davekpilss eelagpvnce nsiptpfpeq
     1441 eaecpedarl spekslqlas anpaisstpy qctvcqseyn nlhgllthyg kkhpgmkvka
     1501 adfaqdidin pgavykcrhc pyintrihgv lthyqkrhps ikvtaedfvh dveqsadisq
     1561 ndveetsrif kqgygayrck lcpythgtle klkihyekyh nqpefdvfsq sppklpvple
     1621 pemttevsps qvsiteeevg eepvstshfs tshlvshtvf rcqlckyfcs trkgiarhyr
     1681 ikhnnvraqp egknnlfkca lcaytnpirk glaahyqkrh didayythcl aasrtisdkp
     1741 nkviipsppk ddspqlseel rravekkkcs lcsfqsfskk givshymkrh pgvfpkkqha
     1801 sklggyftav yadehekptl meeeergnfe kaevegeaqe iewlpfrcik cfklsfstae
     1861 llcmhytdhh srdlkrdfii lgngprlqns tyqckhcdsk lqstaeltsh lnihneefqk
     1921 rakrqerrkq llskqkyadg afadfkqerp fghleevpki kerkvvgykc kfcvevhptl
     1981 raicnhlrkh vqygnvpavs aavkeaddpa hlfldgleaa kdasgalvgr vdgehclldg
     2041 mledetrpgg yhcsqcdrvl msmqglrshe rshlalamft redkyscqyc sfvsafrhnl
     2101 drhmqthhgh hkpfrcklcs fkssynsrlk thilkahage haykcswcsf stmtisqlke
     2161 hslkvhgkal tlprprivsl lsshshhssq katpaeeved sndssysepp dvqqqlnhyq
     2221 saalarnnsr vspvplsgaa agteqkteav lhcefcefss gyiqsirrhy rdkhggkklf
     2281 kckdcsfytg fksaftmhve aghsavpeeg pkdlrcplcl yhtkykrnmi dhivlhreer
     2341 vvpievcrsk lskylqgvvf rcdkctftcs sdeslqqhie khnelkpykc qlcyyetkht
     2401 eeldshlrde hkvsrnfelv grvnldqleq mkekmessss ddedkeeemn skaedrelmr
     2461 fsdhgaalnt ekrfpcefcg rafsqgsewe rhvlrhgmal ndtkqvsree ilpkeimens
     2521 vkmpsieeke ddeaigidfs lknetvaicv vtadksllen aeakke
//
LOCUS       XP_054219956             244 aa            linear   PRI 20-MAR-2023
DEFINITION  hydroxysteroid dehydrogenase-like protein 2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054219956
VERSION     XP_054219956.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363981.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..244
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..244
                     /product="hydroxysteroid dehydrogenase-like protein 2
                     isoform X2"
                     /calculated_mol_wt=26810
     CDS             1..244
                     /gene="HSDL2"
                     /gene_synonym="C9orf99; SDR13C1"
                     /coded_by="XM_054363981.1:131..865"
                     /db_xref="GeneID:84263"
                     /db_xref="HGNC:HGNC:18572"
ORIGIN      
        1 msmyvlgmae efkgeiavna lwpktaihta amdmlggpgi esqcrkvdii adaaysifqk
       61 pksftgnfvi denilkeegi enfdvyaikp ghplqpdffl deypeavskk vestgavpef
      121 keeklqlqpk prsgaveetf rivkdslsdd vvkatqaiyl felsgedggt wfldlkskgg
      181 nvgygepsdq advvmsmttd dfvkmfsgkl kptmafmsgk lkikgnmala ikleklmnqm
      241 narl
//
LOCUS       XP_054182462             587 aa            linear   PRI 20-MAR-2023
DEFINITION  GRB2-associated-binding protein 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054182462
VERSION     XP_054182462.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326487.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..587
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..587
                     /product="GRB2-associated-binding protein 3 isoform X2"
                     /calculated_mol_wt=65529
     CDS             1..587
                     /gene="GAB3"
                     /coded_by="XM_054326487.1:53..1816"
                     /db_xref="GeneID:139716"
                     /db_xref="HGNC:HGNC:17515"
                     /db_xref="MIM:300482"
ORIGIN      
        1 msagdavctg wlvkspperk lqryawrkrw fvlrrgrmsg npdvleyyrn khsskpirvi
       61 dlsecavwkh vgpsfvrkef qnnfvfivkt tsrtfylvak teqemqvwvh sisqvcnlgh
      121 ledgaadsme slsytpsslq pssassllta haassslprd dpntnavate etrsesellf
      181 lpdylvlsnc etgrlhhtsl ptrcdswsns drsleqasfd dvfvdclqpl psshlvhpsc
      241 hgsgaqevps srpqaaliws reingpprdh lsssplless lsstiqvdkn qgslpcgake
      301 ldimsntppp rppkpshlse rrqeewsths gskkpectlv prrislsgld nmrtwkadve
      361 gqslrhrdkr lslnlpcrfs pmyptasasi edsyvpmspq agasglgphc spddyipmns
      421 gsissplpel panlepppvn rdlkpqrksr pppldlrnls iirehasltr trtvpcsrts
      481 flsperngin sarffanpvs redeesyiem eehrtassls sgaltwtkkf sldylaldfn
      541 saspapmqqk lllseeqrvd yvqvdeqktq alqstkqewt derqskv
//
LOCUS       XP_054182697            1049 aa            linear   PRI 20-MAR-2023
DEFINITION  histone lysine demethylase PHF8 isoform X3 [Homo sapiens].
ACCESSION   XP_054182697
VERSION     XP_054182697.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326722.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1049
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1049
                     /product="histone lysine demethylase PHF8 isoform X3"
                     /calculated_mol_wt=116744
     CDS             1..1049
                     /gene="PHF8"
                     /gene_synonym="JHDM1F; KDM7B; MRXSSD; ZNF422"
                     /coded_by="XM_054326722.1:1458..4607"
                     /db_xref="GeneID:23133"
                     /db_xref="HGNC:HGNC:20672"
                     /db_xref="MIM:300560"
ORIGIN      
        1 masvpvyclc rlpydvtrfm iecdmcqdwf hgscvgveee kaadidlyhc pncevlhgps
       61 imkkrrgssk ghdthkgkpv ktgsptfvre lrsrtfdssd evilkptgnq ltvefleens
      121 fsvpilvlkk dglgmtlpsp sftvrdvehy vgsdkeidvi dvtrqadckm klgdfvkyyy
      181 sgkrekvlnv islefsdtrl snlvetpkiv rklswvenlw peecvferpn vqkyclmsvr
      241 dsytdfhidf ggtsvwyhvl kgekifylir ptnanltlfe cwssssnqne mffgdqvdkc
      301 ykcsvkqgqt lfiptgwiha vltpvdclaf ggnflhslni emqlkayeie krlstadlfr
      361 fpnfeticwy vgkhildifr glrenrrhpa sylvhggkal nlafrawtrk ealpdhedei
      421 petvrtvqli kdlareirlv edifqqnvgk tsnifglqri fpagsipltr pahstsvsms
      481 rlslpskngs kkkglkpkel fkkaerkgke ssalgpagql synlmdtysh qalktgsfqk
      541 akfnitgacl ndsdddspdl dldgnespla llmsngstkr vkslsksrrt kiakkvdkar
      601 lmaeqvmede fdldsddelq iderlgkeka tliirpkfpr klprakpcsd pnrvrepgev
      661 efdieedytt dedmvegveg klgngsgagg ildllkasrq vggpdyaalt eapaspstqe
      721 aiqgmlcman lqssssspat sslqawwtgg qdrssgssss glgtvsnspa sqrtpgkrpi
      781 krpaywrtes eeeeenasld eqdslgacfk daeyiypsle sddddpalks rpkkkknsdd
      841 apwspkarvt ptlpkqdrpv regtrvasie tglaaaaakl aqqelqkaqk kkyikkkpll
      901 keveqprpqd snlsltvpap tvaatpqlvt sssplpppep kqealsgsla dheytarpna
      961 fgmaqanrst tpmapgvflt qrrpsvgsqs nqagqgkrpk kglatakqrl grilkihrng
     1021 klllrqvivq aecrqaihep klkrrdahp
//
LOCUS       XP_054184209            2127 aa            linear   PRI 20-MAR-2023
DEFINITION  mediator of RNA polymerase II transcription subunit 12 isoform X3
            [Homo sapiens].
ACCESSION   XP_054184209
VERSION     XP_054184209.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328234.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2127
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2127
                     /product="mediator of RNA polymerase II transcription
                     subunit 12 isoform X3"
                     /calculated_mol_wt=236805
     CDS             1..2127
                     /gene="MED12"
                     /gene_synonym="ARC240; CAGH45; FGS1; HDKR; HOPA; Kto;
                     MED12S; OHDOX; OKS; OPA1; TNRC11; TRAP230"
                     /coded_by="XM_054328234.1:1342..7725"
                     /db_xref="GeneID:9968"
                     /db_xref="HGNC:HGNC:11957"
                     /db_xref="MIM:300188"
ORIGIN      
        1 maafgilsye hrplkrprlg ppdvypqdpk qkedeltaln vkqgfnnqpa vsgdehgsak
       61 nvsfnpakis snfssiiaek lrcntlpdtg rrkpqvnqkd nfwlvtarsq saintwftdl
      121 agtkpltqla kkvpifskke evfgylakyt vpvmraawli kmtcayyaai setkvkkrhv
      181 dpfmewtqii tkylweqlqk maeyyrpgpa gsggcgstig plphdvevai rqwdytekla
      241 mfmfqdgmld rhefltwvle cfekirpged ellklllpll lrysgefvqs aylsrrlayf
      301 ctrrlalqld gvsshsshvi saqststlpt tpapqpptss tpstpfsdll mcpqhrplvf
      361 glscilqtil lccpsalvwh ysltdsrikt gspldhlpia psnlpmpegn saftqqvrak
      421 lreieqqike rgqavevrws fdkcqeatag ftigrvlhtl evldshsfer sdfsnsldsl
      481 cnrifglgps kdgheissdd davvsllcew avsckrsgrh ramvvaklle krqaeieaer
      541 cgeseaadek gsiasgslsa psapifqdvl lqfldtqapm ltdprseser veffnlvllf
      601 celirhdvfs hnmytctlis rgdlafgapg prppspfddp addpehkeae gsssskledp
      661 glsesmdidp sssvlfedme kpdfslfspt mpcegkgsps pekpdvekev kpppkekieg
      721 tlgvlydqpr hvqyathfpi pqeescshec nqrlvvlfgv gkqrddarha ikkitkdilk
      781 vlnrkgtaet dqlapivpln pgdltflgge dgqkrrrnrp eafptaedif akfqhlshyd
      841 qhqvtaqvsr nvleqitsfa lgmsyhlplv qhvqfifdlm eyslsisgli dfaiqllnel
      901 svveaelllk ssdlvgsytt slclcivavl rhyhacliln qdqmaqvfeg lcgvvkhgmn
      961 rsdgssaerc ilaylydlyt scshlknkfg elfsdfcskv kntiycnvep sesnmrwape
     1021 fmidtlenpa ahtftytglg kslsenpanr ysfvcnalmh vcvghhdpdr vndiailcae
     1081 ltgyckslsa ewlgvlkalc cssnngtcgf ndllcnvdvs dlsfhdslat fvailiarqc
     1141 llledlirca aipsllnaac seqdsepgar ltcrillhlf ktpqlnpcqs dgnkptvgir
     1201 sscdrhllaa sqnrivdgav favlkavfvl gdaelkgsgf tvtggteelp eeeggggsgg
     1261 rrqggrnisv etasldvyak yvlrsicqqe wvgerclksl cedsndlqdp vlssaqaqrl
     1321 mqlicyphrl ldnedgenpq rqrikrilqn ldqwtmrqss lelqlmikqt pnnemnslle
     1381 niakatievf qqsaetgsss gstasnmpss sktkpvlssl ersgvwlvap liaklptsvq
     1441 ghvlkaagee lekgqhlgss srkerdrqkq ksmsllsqqp flslvltclk gqdeqregll
     1501 tslysqvhqi vnnwrddqyl ddckpkqlmh ealklrlnlv ggmfdtvqrs tqqttewaml
     1561 lleiiisgtv dmqsnnelft tvldmlsvli ngtlaadmss isqgsmeenk raymnlakkl
     1621 qkelgerqsd slekvrqllp lpkqtrdvit cepqgslidt kgnkiagfds ifkkeglqvs
     1681 tkqkispwdl feglkpsapl swgwfgtvrv drrvargeeq qrlllyhthl rprprayyle
     1741 plplppedee ppaptllepe kkapeppktd kpgaappste erkkkstkgk krsqpatkte
     1801 dygmgpgrsg pygvtvppdl lhhpnpgsit hlnyrqgsig lytqnqplpa ggprvdpyrp
     1861 vrlpmqklpt rptypgvlpt tmtgvmglep ssyktsvyrq qqpavpqgqr lrqqlqakis
     1921 qgmlgqssvh qmtpsssygl qtsqgytpyv shvglqqhtg pagtmvppsy ssqpyqsthp
     1981 stnptlvdpt rhlqqrpsgy vhqqaptygh gltstqrfsh qtlqqtpmis tmtpmsaqgv
     2041 qagvrstail peqqqqqqqq qqqqqqqqqq qqqqqqqqyh irqqqqqqil rvrhwdfiwd
     2101 lgaqggreaq vlptqlprln kavyqnt
//
LOCUS       NP_001161078             152 aa            linear   PRI 26-MAR-2023
DEFINITION  ras-related protein Rab-35 isoform 2 [Homo sapiens].
ACCESSION   NP_001161078
VERSION     NP_001161078.1
DBSOURCE    REFSEQ: accession NM_001167606.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 152)
  AUTHORS   Li C, Gao Z, Cui Z, Liu Z, Bian Y, Sun H, Wang N, He Z, Li B, Li F,
            Li Z, Wang L, Zhang D, Yang L, Xu Z and Xu H.
  TITLE     Deubiquitylation of Rab35 by USP32 promotes the transmission of
            imatinib resistance by enhancing exosome secretion in
            gastrointestinal stromal tumours
  JOURNAL   Oncogene 42 (12), 894-910 (2023)
   PUBMED   36725886
  REMARK    GeneRIF: Deubiquitylation of Rab35 by USP32 promotes the
            transmission of imatinib resistance by enhancing exosome secretion
            in gastrointestinal stromal tumours.
REFERENCE   2  (residues 1 to 152)
  AUTHORS   Lin H, Tang M, Ji C, Girardi P, Cvetojevic G, Chen D, Koren SA and
            Johnson GVW.
  TITLE     BAG3 Regulation of RAB35 Mediates the Endosomal Sorting Complexes
            Required for Transport/Endolysosome Pathway and Tau Clearance
  JOURNAL   Biol Psychiatry 92 (1), 10-24 (2022)
   PUBMED   35000752
  REMARK    GeneRIF: BAG3 Regulation of RAB35 Mediates the Endosomal Sorting
            Complexes Required for Transport/Endolysosome Pathway and Tau
            Clearance.
REFERENCE   3  (residues 1 to 152)
  AUTHORS   Rodrigues PV, de Godoy JVP, Bosque BP, Amorim Neto DP, Tostes K,
            Palameta S, Garcia-Rosa S, Tonoli CCC, de Carvalho HF and de Castro
            Fonseca M.
  TITLE     Transcellular propagation of fibrillar alpha-synuclein from
            enteroendocrine to neuronal cells requires cell-to-cell contact and
            is Rab35-dependent
  JOURNAL   Sci Rep 12 (1), 4168 (2022)
   PUBMED   35264710
  REMARK    GeneRIF: Transcellular propagation of fibrillar alpha-synuclein
            from enteroendocrine to neuronal cells requires cell-to-cell
            contact and is Rab35-dependent.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 152)
  AUTHORS   Lu C, Zhao Q, Wang D, Feng Y, Feng L, Li Z and Shi Q.
  TITLE     Rab35 regulates insulin secretion via phogrin in pancreatic beta
            cells
  JOURNAL   Clin Exp Pharmacol Physiol 49 (1), 104-112 (2022)
   PUBMED   34448213
  REMARK    GeneRIF: Rab35 regulates insulin secretion via phogrin in
            pancreatic beta cells.
REFERENCE   5  (residues 1 to 152)
  AUTHORS   Wen H, Liu Z, Tang J and Bu L.
  TITLE     MiR-185-5p targets RAB35 gene to regulate tumor cell-derived
            exosomes-mediated proliferation, migration and invasion of
            non-small cell lung cancer cells
  JOURNAL   Aging (Albany NY) 13 (17), 21435-21450 (2021)
   PUBMED   34500436
  REMARK    GeneRIF: MiR-185-5p targets RAB35 gene to regulate tumor
            cell-derived exosomes-mediated proliferation, migration and
            invasion of non-small cell lung cancer cells.
REFERENCE   6  (residues 1 to 152)
  AUTHORS   Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang
            H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz
            J, Hearing VJ, Wu C, Appella E and Hunt DF.
  TITLE     Proteomic and bioinformatic characterization of the biogenesis and
            function of melanosomes
  JOURNAL   J Proteome Res 5 (11), 3135-3144 (2006)
   PUBMED   17081065
REFERENCE   7  (residues 1 to 152)
  AUTHORS   Kouranti I, Sachse M, Arouche N, Goud B and Echard A.
  TITLE     Rab35 regulates an endocytic recycling pathway essential for the
            terminal steps of cytokinesis
  JOURNAL   Curr Biol 16 (17), 1719-1725 (2006)
   PUBMED   16950109
  REMARK    GeneRIF: localized to the plasma membrane and endocytic
            compartments and controls a fast endocytic recycling pathway; plays
            an essential role during the terminal steps of cytokinesis
REFERENCE   8  (residues 1 to 152)
  AUTHORS   Abe Y, Takeuchi T, Imai Y, Murase R, Kamei Y, Fujibuchi T,
            Matsumoto S, Ueda N, Ogasawara M, Shigemoto K and Kito K.
  TITLE     A Small Ras-like protein Ray/Rab1c modulates the p53-regulating
            activity of PRPK
  JOURNAL   Biochem Biophys Res Commun 344 (1), 377-385 (2006)
   PUBMED   16600182
  REMARK    GeneRIF: A Small Ras-like GTPase protein Ray was indicated to
            modulate p53 transcriptional activity of PRPK.
REFERENCE   9  (residues 1 to 152)
  AUTHORS   Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha
            S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson
            AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ,
            Metzker ML, Milosavljevic A, Miner GR, Montgomery KT, Morgan MB,
            Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC,
            Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA,
            Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C,
            Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson
            LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari
            M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ,
            Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q,
            Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V,
            Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE,
            Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I,
            Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C,
            Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM,
            Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A,
            Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M,
            Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M,
            Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal
            B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM,
            Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua
            P, Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG,
            Mendez S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E,
            Mitchell T, Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris
            S, Munidasa M, Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO,
            Nwokenkwo S, Obregon M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ,
            Parker DN, Parrish J, Parks KL, Paul HA, Payton BA, Perez A, Perrin
            W, Pickens A, Primus EL, Pu LL, Puazo M, Quiles MM, Quiroz JB,
            Rabata D, Reeves K, Ruiz SJ, Shao H, Sisson I, Sonaike T, Sorelle
            RP, Sutton AE, Svatek AF, Svetz LA, Tamerisa KS, Taylor TR, Teague
            B, Thomas N, Thorn RD, Trejos ZY, Trevino BK, Ukegbu ON, Urban JB,
            Vasquez LI, Vera VA, Villasana DM, Wang L, Ward-Moore S, Warren JT,
            Wei X, White F, Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen
            J, Yoon L, Yoon V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock
            G and Gibbs RA.
  CONSRTM   Baylor College of Medicine Human Genome Sequencing Center Sequence
            Production Team
  TITLE     The finished DNA sequence of human chromosome 12
  JOURNAL   Nature 440 (7082), 346-351 (2006)
   PUBMED   16541075
REFERENCE   10 (residues 1 to 152)
  AUTHORS   Zhu AX, Zhao Y and Flier JS.
  TITLE     Molecular cloning of two small GTP-binding proteins from human
            skeletal muscle
  JOURNAL   Biochem Biophys Res Commun 205 (3), 1875-1882 (1994)
   PUBMED   7811277
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC370610.1, AK304620.1, BP303346.1 and AK001309.2.
            
            Transcript Variant: This variant (2) lacks an exon in the 3' coding
            region, as compared to variant 1. The resulting isoform (2) is
            shorter and has a distinct C-terminus, as compared to isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.986109.1,
                                           SRR1163658.22627.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..152
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.23"
     Protein         1..152
                     /product="ras-related protein Rab-35 isoform 2"
                     /note="ras-related protein rab-1c (GTP-binding protein
                     ray); ras-related protein Rab-35; GTP-binding protein RAY"
                     /calculated_mol_wt=16927
     Region          3..>117
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            15..22
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206648"
     Region          37..45
                     /region_name="Effector region. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15286.1)"
     Site            40
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206648"
     Site            44..46
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206648"
     Site            63..66
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206648"
     Site            order(65..66,82..83)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206648"
     Site            72
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by LRRK2.
                     /evidence=ECO:0000269|PubMed:29125462,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15286.1)"
     CDS             1..152
                     /gene="RAB35"
                     /gene_synonym="H-ray; RAB1C; RAY"
                     /coded_by="NM_001167606.2:104..562"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS53836.1"
                     /db_xref="GeneID:11021"
                     /db_xref="HGNC:HGNC:9774"
                     /db_xref="MIM:604199"
ORIGIN      
        1 mardydhlfk lliigdsgvg ksslllrfad ntfsgsyitt igvdfkirtv eingekvklq
       61 iwdtagqerf rtitstyyrg thgvivvydv tsaesfvnvk rwlheinqnc ddvcrildvq
      121 lhhgagppsk erqpgktaaa ttercgeahe eq
//
LOCUS       NP_001244316             322 aa            linear   PRI 26-MAR-2023
DEFINITION  serine/threonine-protein kinase Chk2 isoform d [Homo sapiens].
ACCESSION   NP_001244316
VERSION     NP_001244316.1
DBSOURCE    REFSEQ: accession NM_001257387.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 322)
  AUTHORS   Wagener R, Walter C, Auer F, Alzoubi D, Hauer J, Fischer U,
            Varghese J, Dugas M, Borkhardt A and Brozou T.
  TITLE     The CHK2 kinase is recurrently mutated and functionally impaired in
            the germline of pediatric cancer patients
  JOURNAL   Int J Cancer 152 (7), 1388-1398 (2023)
   PUBMED   36468172
  REMARK    GeneRIF: The CHK2 kinase is recurrently mutated and functionally
            impaired in the germline of pediatric cancer patients.
REFERENCE   2  (residues 1 to 322)
  AUTHORS   Alorjani M, Aburub M, Al-Trad B, Hamad MA, AbuAlarja M, Bashir SA,
            Al-Batayneh K and Zoubi MA.
  TITLE     The Prevalence of CHEK1 and CHEK2 Mutations in Prostate Cancer: a
            Retrospective Cohort Study
  JOURNAL   Med Arch 77 (1), 8-12 (2023)
   PUBMED   36919124
  REMARK    GeneRIF: The Prevalence of CHEK1 and CHEK2 Mutations in Prostate
            Cancer: a Retrospective Cohort Study.
REFERENCE   3  (residues 1 to 322)
  AUTHORS   Agaoglu NB, Ng OH, Unal B, Dogan OA, Amanvermez U, Yildiz J,
            Doganay L, Ghazani AA and Rana HQ.
  TITLE     Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a
            Hereditary Cancer Family
  JOURNAL   Cancer Genet 268-269, 128-136 (2022)
   PUBMED   36368126
  REMARK    GeneRIF: Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2
            in a Hereditary Cancer Family.
REFERENCE   4  (residues 1 to 322)
  AUTHORS   Hsieh CC, Hsu SH, Lin CY, Liaw HJ, Li TW, Jiang KY, Chiang NJ, Chen
            SH, Lin BW, Chen PC, Chan RH, Lin PC, Yeh YM and Shen CH.
  TITLE     CHK2 activation contributes to the development of oxaliplatin
            resistance in colorectal cancer
  JOURNAL   Br J Cancer 127 (9), 1615-1628 (2022)
   PUBMED   35999268
  REMARK    GeneRIF: CHK2 activation contributes to the development of
            oxaliplatin resistance in colorectal cancer.
REFERENCE   5  (residues 1 to 322)
  AUTHORS   Kirchner K, Gamulin M, Kulis T, Sievers B, Kastelan Z and Lessel D.
  TITLE     Comprehensive Clinical and Genetic Analysis of CHEK2 in Croatian
            Men with Prostate Cancer
  JOURNAL   Genes (Basel) 13 (11), 1955 (2022)
   PUBMED   36360192
  REMARK    GeneRIF: Comprehensive Clinical and Genetic Analysis of CHEK2 in
            Croatian Men with Prostate Cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 322)
  AUTHORS   Martinho RG, Lindsay HD, Flaggs G, DeMaggio AJ, Hoekstra MF, Carr
            AM and Bentley NJ.
  TITLE     Analysis of Rad3 and Chk1 protein kinases defines different
            checkpoint responses
  JOURNAL   EMBO J 17 (24), 7239-7249 (1998)
   PUBMED   9857181
REFERENCE   7  (residues 1 to 322)
  AUTHORS   Matsuoka S, Huang M and Elledge SJ.
  TITLE     Linkage of ATM to cell cycle regulation by the Chk2 protein kinase
  JOURNAL   Science 282 (5395), 1893-1897 (1998)
   PUBMED   9836640
REFERENCE   8  (residues 1 to 322)
  AUTHORS   Lindsay HD, Griffiths DJ, Edwards RJ, Christensen PU, Murray JM,
            Osman F, Walworth N and Carr AM.
  TITLE     S-phase-specific activation of Cds1 kinase defines a subpathway of
            the checkpoint response in Schizosaccharomyces pombe
  JOURNAL   Genes Dev 12 (3), 382-395 (1998)
   PUBMED   9450932
REFERENCE   9  (residues 1 to 322)
  AUTHORS   Lykidis A, Jackson PD, Rock CO and Jackowski S.
  TITLE     The role of CDP-diacylglycerol synthetase and phosphatidylinositol
            synthase activity levels in the regulation of cellular
            phosphatidylinositol content
  JOURNAL   J Biol Chem 272 (52), 33402-33409 (1997)
   PUBMED   9407135
REFERENCE   10 (residues 1 to 322)
  AUTHORS   Peng CY, Graves PR, Thoma RS, Wu Z, Shaw AS and Piwnica-Worms H.
  TITLE     Mitotic and G2 checkpoint control: regulation of 14-3-3 protein
            binding by phosphorylation of Cdc25C on serine-216
  JOURNAL   Science 277 (5331), 1501-1505 (1997)
   PUBMED   9278512
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF217975.1.
            
            Summary: In response to DNA damage and replication blocks, cell
            cycle progression is halted through the control of critical cell
            cycle regulators. The protein encoded by this gene is a cell cycle
            checkpoint regulator and putative tumor suppressor. It contains a
            forkhead-associated protein interaction domain essential for
            activation in response to DNA damage and is rapidly phosphorylated
            in response to replication blocks and DNA damage. When activated,
            the encoded protein is known to inhibit CDC25C phosphatase,
            preventing entry into mitosis, and has been shown to stabilize the
            tumor suppressor protein p53, leading to cell cycle arrest in G1.
            In addition, this protein interacts with and phosphorylates BRCA1,
            allowing BRCA1 to restore survival after DNA damage. Mutations in
            this gene have been linked with Li-Fraumeni syndrome, a highly
            penetrant familial cancer phenotype usually associated with
            inherited mutations in TP53. Also, mutations in this gene are
            thought to confer a predisposition to sarcomas, breast cancer, and
            brain tumors. This nuclear protein is a member of the CDS1
            subfamily of serine/threonine protein kinases. Several transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Apr 2012].
            
            Transcript Variant: This variant (4) contains an alternate exon
            compared to variant 1, that causes a frameshift. The resulting
            isoform (d) is shorter at the N-terminus compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF217975.1, SRR14038194.2608728.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..322
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.1"
     Protein         1..322
                     /product="serine/threonine-protein kinase Chk2 isoform d"
                     /EC_number="2.7.11.1"
                     /note="checkpoint-like protein CHK2;
                     serine/threonine-protein kinase CHK2; CHK2 checkpoint
                     homolog; cds1 homolog"
                     /calculated_mol_wt=36026
     Region          1..265
                     /region_name="STKc_Chk2"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Cell cycle Checkpoint Kinase 2; cd14084"
                     /db_xref="CDD:270986"
     Site            order(1,3,5,7,15,17,22,24,33,36..38,48,82,89,93..94,169,
                     204,207)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:270986"
     Site            order(5..11,13,26,28,65,80..83,87,89,125..126,128,
                     130..131,133,146..147,150,164..168,170)
                     /site_type="active"
                     /db_xref="CDD:270986"
     Site            order(5..11,13,26,28,65,80..83,87,130..131,133,147)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270986"
     Site            order(9,87,89,125..126,128,130,150,164..168,170)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270986"
     Site            order(146..156,160..168)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270986"
     CDS             1..322
                     /gene="CHEK2"
                     /gene_synonym="CDS1; CHK2; hCds1; HuCds1; LFS2; PP1425;
                     RAD53"
                     /coded_by="NM_001257387.2:836..1804"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="GeneID:11200"
                     /db_xref="HGNC:HGNC:16627"
                     /db_xref="MIM:604373"
ORIGIN      
        1 msktlgsgac gevklaferk tckkvaikii skrkfaigsa readpalnve teieilkkln
       61 hpciikiknf fdaedyyivl elmeggelfd kvvgnkrlke atcklyfyqm llavqylhen
      121 giihrdlkpe nvllssqeed clikitdfgh skilgetslm rtlcgtptyl apevlvsvgt
      181 agynravdcw slgvilficl sgyppfsehr tqvslkdqit sgkynfipev waevsekald
      241 lvkkllvvdp karftteeal rhpwlqdedm krkfqdllse enestalpqv laqpstsrkr
      301 pregeaegae ttkrpavcaa vl
//
LOCUS       NP_001339628            1096 aa            linear   PRI 17-APR-2023
DEFINITION  focal adhesion kinase 1 isoform 7 [Homo sapiens].
ACCESSION   NP_001339628
VERSION     NP_001339628.1
DBSOURCE    REFSEQ: accession NM_001352699.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1096)
  AUTHORS   Zhang J, Li W, Wang W, Chen Q, Xu Z, Deng M, Zhou L and He G.
  TITLE     Dual roles of FAK in tumor angiogenesis: A review focused on
            pericyte FAK
  JOURNAL   Eur J Pharmacol 947, 175694 (2023)
   PUBMED   36967077
  REMARK    GeneRIF: Dual roles of FAK in tumor angiogenesis: A review focused
            on pericyte FAK.
            Review article
REFERENCE   2  (residues 1 to 1096)
  AUTHORS   Akhade VS, Liu T, Docking TR, Jiang J, Gopal A and Karsan A.
  TITLE     Control of focal adhesion kinase activation by RUNX1-regulated
            miRNAs in high-risk AML
  JOURNAL   Leukemia 37 (4), 776-787 (2023)
   PUBMED   36788336
  REMARK    GeneRIF: Control of focal adhesion kinase activation by
            RUNX1-regulated miRNAs in high-risk AML.
REFERENCE   3  (residues 1 to 1096)
  AUTHORS   Zhang Y, He B, Zhang D, Zhang Y, Chen C, Zhang W, Yang S, Yao M,
            Cui G, Gu J, Wang T, Lin Z, Fan Y, Xiong Z and Hao Y.
  TITLE     FAK-mediated phosphorylation at Y464 regulates p85beta nuclear
            translocation to promote tumorigenesis of ccRCC by repressing RB1
            expression
  JOURNAL   Cell Rep 42 (3), 112188 (2023)
   PUBMED   36857183
  REMARK    GeneRIF: FAK-mediated phosphorylation at Y464 regulates p85beta
            nuclear translocation to promote tumorigenesis of ccRCC by
            repressing RB1 expression.
REFERENCE   4  (residues 1 to 1096)
  AUTHORS   Zhang J, Gelman IH, Qu J and Hochwald SN.
  TITLE     Phosphohistidine signaling promotes FAK-RB1 interaction and growth
            factor-independent proliferation of esophageal squamous cell
            carcinoma
  JOURNAL   Oncogene 42 (6), 449-460 (2023)
   PUBMED   36513743
  REMARK    GeneRIF: Phosphohistidine signaling promotes FAK-RB1 interaction
            and growth factor-independent proliferation of esophageal squamous
            cell carcinoma.
REFERENCE   5  (residues 1 to 1096)
  AUTHORS   Rizza S, Di Leo L, Pecorari C, Giglio P, Faienza F, Montagna C,
            Maiani E, Puglia M, Bosisio FM, Petersen TS, Lin L, Rissler V,
            Viloria JS, Luo Y, Papaleo E, De Zio D, Blagoev B and Filomeni G.
  TITLE     GSNOR deficiency promotes tumor growth via FAK1 S-nitrosylation
  JOURNAL   Cell Rep 42 (1), 111997 (2023)
   PUBMED   36656716
  REMARK    GeneRIF: GSNOR deficiency promotes tumor growth via FAK1
            S-nitrosylation.
REFERENCE   6  (residues 1 to 1096)
  AUTHORS   Polte TR and Hanks SK.
  TITLE     Interaction between focal adhesion kinase and Crk-associated
            tyrosine kinase substrate p130Cas
  JOURNAL   Proc Natl Acad Sci U S A 92 (23), 10678-10682 (1995)
   PUBMED   7479864
REFERENCE   7  (residues 1 to 1096)
  AUTHORS   Guinebault C, Payrastre B, Racaud-Sultan C, Mazarguil H, Breton M,
            Mauco G, Plantavid M and Chap H.
  TITLE     Integrin-dependent translocation of phosphoinositide 3-kinase to
            the cytoskeleton of thrombin-activated platelets involves specific
            interactions of p85 alpha with actin filaments and focal adhesion
            kinase
  JOURNAL   J Cell Biol 129 (3), 831-842 (1995)
   PUBMED   7537275
REFERENCE   8  (residues 1 to 1096)
  AUTHORS   Calalb MB, Polte TR and Hanks SK.
  TITLE     Tyrosine phosphorylation of focal adhesion kinase at sites in the
            catalytic domain regulates kinase activity: a role for Src family
            kinases
  JOURNAL   Mol Cell Biol 15 (2), 954-963 (1995)
   PUBMED   7529876
REFERENCE   9  (residues 1 to 1096)
  AUTHORS   Bergman M, Joukov V, Virtanen I and Alitalo K.
  TITLE     Overexpressed Csk tyrosine kinase is localized in focal adhesions,
            causes reorganization of alpha v beta 5 integrin, and interferes
            with HeLa cell spreading
  JOURNAL   Mol Cell Biol 15 (2), 711-722 (1995)
   PUBMED   7529872
REFERENCE   10 (residues 1 to 1096)
  AUTHORS   Schaller MD, Hildebrand JD, Shannon JD, Fox JW, Vines RR and
            Parsons JT.
  TITLE     Autophosphorylation of the focal adhesion kinase, pp125FAK, directs
            SH2-dependent binding of pp60src
  JOURNAL   Mol Cell Biol 14 (3), 1680-1688 (1994)
   PUBMED   7509446
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC100860.2, AC105009.13,
            AC105235.7 and AC067931.16.
            
            Summary: This gene encodes a cytoplasmic protein tyrosine kinase
            which is found concentrated in the focal adhesions that form
            between cells growing in the presence of extracellular matrix
            constituents. The encoded protein is a member of the FAK subfamily
            of protein tyrosine kinases but lacks significant sequence
            similarity to kinases from other subfamilies. Activation of this
            gene may be an important early step in cell growth and
            intracellular signal transduction pathways triggered in response to
            certain neural peptides or to cell interactions with the
            extracellular matrix. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jun 2017].
            
            Transcript Variant: This variant (10), as well as variants 11-14,
            encodes isoform g.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1096
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..1096
                     /product="focal adhesion kinase 1 isoform 7"
                     /EC_number="2.7.10.2"
                     /note="focal adhesion kinase 1; FAK-related non-kinase
                     polypeptide; focal adhesion kinase-related nonkinase;
                     protein phosphatase 1 regulatory subunit 71; PTK2 protein
                     tyrosine kinase 2"
                     /calculated_mol_wt=124079
     Region          35..130
                     /region_name="FERM_N_2"
                     /note="FERM N-terminal domain; pfam18038"
                     /db_xref="CDD:436229"
     Region          36..258
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          254..364
                     /region_name="FERM_C_FAK1"
                     /note="FERM domain C-lobe of Focal Adhesion Kinase 1 and
                     2; cd13190"
                     /db_xref="CDD:270011"
     Site            order(262,282,284,291)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270011"
     Site            order(296,301..304,341,345,348..349)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Site            341..352
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Region          456..725
                     /region_name="PTKc_FAK"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Focal Adhesion Kinase; cd05056"
                     /db_xref="CDD:133187"
     Site            order(469..473,477,493,495,512,525,540..543,546..547,587,
                     591..592,594,605,622..626,635,669)
                     /site_type="active"
                     /db_xref="CDD:133187"
     Site            order(469..473,477,493,495,512,525,540..543,546..547,
                     591..592,594,605)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133187"
     Site            order(587,591,622..626,635,669)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133187"
     Site            604..628
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133187"
     Site            order(635..639,673,677,702)
                     /site_type="other"
                     /note="FERM domain interface [polypeptide binding]"
                     /db_xref="CDD:133187"
     Region          960..1089
                     /region_name="Focal_AT"
                     /note="Focal adhesion targeting region; pfam03623"
                     /db_xref="CDD:427406"
     CDS             1..1096
                     /gene="PTK2"
                     /gene_synonym="FADK; FADK 1; FAK; FAK1; FRNK; p125FAK;
                     pp125FAK; PPP1R71"
                     /coded_by="NM_001352699.2:188..3478"
                     /note="isoform 7 is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS94346.1"
                     /db_xref="GeneID:5747"
                     /db_xref="HGNC:HGNC:9611"
                     /db_xref="MIM:600758"
ORIGIN      
        1 maaayldpnl nhtpnsstkt hlgtgmersp gamervlkvf hyfesnsept twasiirhgd
       61 atdvrgiiqk ivdshkvkhv acygfrlshl rseevhwlhv dmgvssvrek yelahppeew
      121 kyelrirylp kgflnqfted kptlnffyqq vksdymleia dqvdqeialk lgcleirrsy
      181 wemrgnalek ksnyevlekd vglkrffpks lldsvkaktl rkliqqtfrq fanlnreesi
      241 lkffeilspv yrfdkecfkc algsswiisv elaigpeegi syltdkgcnp thladftqvq
      301 tiqysnsedk drkgmlqlki agapepltvt apsltiaenm adlidgycrl vngtsqsfii
      361 rpqkegeral psipklanse kqgmrthavs vsgvshcqhk vkkarrflpl vfcshdppst
      421 deisgdetdd yaeiideedt ytmpsksygi deardyeiqr erielgrcig egqfgdvhqg
      481 iymspenpal avaiktcknc tsdsvrekfl qealtmrqfd hphivkligv itenpvwiim
      541 elctlgelrs flqvrkysld laslilyayq lstalayles krfvhrdiaa rnvlvssndc
      601 vklgdfglsr ymedstyyka skgklpikwm apesinfrrf tsasdvwmfg vcmweilmhg
      661 vkpfqgvknn dvigrienge rlpmppncpp tlyslmtkcw aydpsrrprf telkaqlsti
      721 leeekaqqee rmrmesrrqa tvswdsggsd eappkpsrpg ypsprssegf ypspqhmvqt
      781 nhyqvsgypg shgitamags iypgqaslld qtdswnhrpq eiamwqpnve dstvldlrgi
      841 gqvlpthlme erlirqqqem eedqrwleke erflkpdvrl srgsidredg slqgpignqh
      901 iyqpvgkpdp aappkkpprp gapghlgsla slsspadsyn egvkpwrlqp qeisppptan
      961 ldrsndkvye nvtglvkavi emsskiqpap peeyvpmvke vglalrtlla tvdetipllp
     1021 asthreiema qkllnsdlge linkmklaqq yvmtslqqey kkqmltaaha lavdaknlld
     1081 vidqarlkml gqtrph
//
LOCUS       NP_001553                193 aa            linear   PRI 17-APR-2023
DEFINITION  interleukin-18 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001553
VERSION     NP_001553.1
DBSOURCE    REFSEQ: accession NM_001562.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 193)
  AUTHORS   Nieradko-Iwanicka B, Przybylska D and Borzecki A.
  TITLE     Interleukin 1alpha and interleukin 18 in patients with vitiligo -
            Results of a case-control study
  JOURNAL   Biomed Pharmacother 160, 114364 (2023)
   PUBMED   36739764
  REMARK    GeneRIF: Interleukin 1alpha and interleukin 18 in patients with
            vitiligo - Results of a case-control study.
REFERENCE   2  (residues 1 to 193)
  AUTHORS   Maqsood M, Sharif S, Naz S, Farasat T, Manzoor F, Cheema M and
            Saqib M.
  TITLE     Expression of pro-inflammatory cytokines (IL-6 & IL-18) exacerbate
            the risk of diabetic nephropathy in the Pakistani population
  JOURNAL   Mol Biol Rep 50 (4), 3249-3257 (2023)
   PUBMED   36708448
  REMARK    GeneRIF: Expression of pro-inflammatory cytokines (IL-6 & IL-18)
            exacerbate the risk of diabetic nephropathy in the Pakistani
            population.
REFERENCE   3  (residues 1 to 193)
  AUTHORS   Manfrere KCG, Torrealba MP, Ferreira FM, de Sousa ESA, Miyashiro D,
            Teixeira FME, Custodio RWA, Nakaya HI, Ramos YAL, Sotto MN,
            Woetmann A, Odum N, Duarte AJDS, Sanches JA and Sato MN.
  TITLE     Imbalanced IL-1B and IL-18 Expression in Sezary Syndrome
  JOURNAL   Int J Mol Sci 24 (5), 4674 (2023)
   PUBMED   36902104
  REMARK    GeneRIF: Imbalanced IL-1B and IL-18 Expression in Sezary Syndrome.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 193)
  AUTHORS   Molaei V, Fattahi MR, Haghshenas MR, Hosseini SY, Malekhosseini SA
            and Sarvari J.
  TITLE     Polymorphism Analysis of Interleukin-18 and Interleukin-37 Genes in
            Hepatitis B Infections with Different Outcomes: A Preliminary
            Report from an Iranian Population
  JOURNAL   Asian Pac J Cancer Prev 24 (2), 411-416 (2023)
   PUBMED   36853287
  REMARK    GeneRIF: Polymorphism Analysis of Interleukin-18 and Interleukin-37
            Genes in Hepatitis B Infections with Different Outcomes: A
            Preliminary Report from an Iranian Population.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 193)
  AUTHORS   Wang X, Wang L, Wen X, Zhang L, Jiang X and He G.
  TITLE     Interleukin-18 and IL-18BP in inflammatory dermatological diseases
  JOURNAL   Front Immunol 14, 955369 (2023)
   PUBMED   36742296
  REMARK    GeneRIF: Interleukin-18 and IL-18BP in inflammatory dermatological
            diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 193)
  AUTHORS   Yoshimoto T, Okamura H, Tagawa YI, Iwakura Y and Nakanishi K.
  TITLE     Interleukin 18 together with interleukin 12 inhibits IgE production
            by induction of interferon-gamma production from activated B cells
  JOURNAL   Proc Natl Acad Sci U S A 94 (8), 3948-3953 (1997)
   PUBMED   9108085
REFERENCE   7  (residues 1 to 193)
  AUTHORS   Gu Y, Kuida K, Tsutsui H, Ku G, Hsiao K, Fleming MA, Hayashi N,
            Higashino K, Okamura H, Nakanishi K, Kurimoto M, Tanimoto T,
            Flavell RA, Sato V, Harding MW, Livingston DJ and Su MS.
  TITLE     Activation of interferon-gamma inducing factor mediated by
            interleukin-1beta converting enzyme
  JOURNAL   Science 275 (5297), 206-209 (1997)
   PUBMED   8999548
REFERENCE   8  (residues 1 to 193)
  AUTHORS   Micallef MJ, Ohtsuki T, Kohno K, Tanabe F, Ushio S, Namba M,
            Tanimoto T, Torigoe K, Fujii M, Ikeda M, Fukuda S and Kurimoto M.
  TITLE     Interferon-gamma-inducing factor enhances T helper 1 cytokine
            production by stimulated human T cells: synergism with
            interleukin-12 for interferon-gamma production
  JOURNAL   Eur J Immunol 26 (7), 1647-1651 (1996)
   PUBMED   8766574
REFERENCE   9  (residues 1 to 193)
  AUTHORS   Ushio S, Namba M, Okura T, Hattori K, Nukada Y, Akita K, Tanabe F,
            Konishi K, Micallef M, Fujii M, Torigoe K, Tanimoto T, Fukuda S,
            Ikeda M, Okamura H and Kurimoto M.
  TITLE     Cloning of the cDNA for human IFN-gamma-inducing factor, expression
            in Escherichia coli, and studies on the biologic activities of the
            protein
  JOURNAL   J Immunol 156 (11), 4274-4279 (1996)
   PUBMED   8666798
REFERENCE   10 (residues 1 to 193)
  AUTHORS   Okamura H, Tsutsi H, Komatsu T, Yutsudo M, Hakura A, Tanimoto T,
            Torigoe K, Okura T, Nukada Y, Hattori K et al.
  TITLE     Cloning of a new cytokine that induces IFN-gamma production by T
            cells
  JOURNAL   Nature 378 (6552), 88-91 (1995)
   PUBMED   7477296
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC007461.1, D49950.1 and
            AY266351.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a proinflammatory
            cytokine of the IL-1 family that is constitutively found as a
            precursor within the cytoplasm of a variety of cells including
            macrophages and keratinocytes. The inactive IL-18 precursor is
            processed to its active form by caspase-1, and is capable of
            stimulating interferon gamma production, and of regulating both T
            helper (Th) 1 and Th2 responses. This cytokine has been implicated
            in the injury of different organs, and in potentially fatal
            conditions characterized by a cytokine storm. In humans, IL-18 gene
            is located on chromosome 11. Alternatively spliced transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Aug 2020].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript, both variants 1 and 3 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: D49950.1, BC007007.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: involved in cytokine storm inflammatory
                                      response
            MANE Ensembl match     :: ENST00000280357.12/ ENSP00000280357.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..193
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.1"
     Protein         1..193
                     /product="interleukin-18 isoform 1 precursor"
                     /note="interleukin-1 gamma; IL-1 gamma; iboctadekin;
                     IFN-gamma-inducing factor; interleukin 18
                     (interferon-gamma-inducing factor)"
                     /calculated_mol_wt=22195
     mat_peptide     37..193
                     /product="Interleukin-18. /id=PRO_0000015344"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14116.1)"
                     /calculated_mol_wt=18217
     Region          73..185
                     /region_name="IL1"
                     /note="Interleukin-1 / 18; pfam00340"
                     /db_xref="CDD:395269"
     CDS             1..193
                     /gene="IL18"
                     /gene_synonym="IGIF; IL-18; IL-1g; IL1F4"
                     /coded_by="NM_001562.4:198..779"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS44731.1"
                     /db_xref="GeneID:3606"
                     /db_xref="HGNC:HGNC:5986"
                     /db_xref="MIM:600953"
ORIGIN      
        1 maaepvednc infvamkfid ntlyfiaedd enlesdyfgk lesklsvirn lndqvlfidq
       61 gnrplfedmt dsdcrdnapr tifiismykd sqprgmavti svkcekistl scenkiisfk
      121 emnppdnikd tksdiiffqr svpghdnkmq fesssyegyf lacekerdlf klilkkedel
      181 gdrsimftvq ned
//
LOCUS       NP_001362591             468 aa            linear   PRI 17-APR-2023
DEFINITION  abl interactor 2 isoform f [Homo sapiens].
ACCESSION   NP_001362591
VERSION     NP_001362591.1
DBSOURCE    REFSEQ: accession NM_001375662.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 468)
  AUTHORS   Jensen CC, Clements AN, Liou H, Ball LE, Bethard JR, Langlais PR,
            Toth RK, Chauhan SS, Casillas AL, Daulat SR, Kraft AS, Cress AE,
            Miranti CK, Mouneimne G, Rogers GC and Warfel NA.
  TITLE     PIM1 phosphorylates ABI2 to enhance actin dynamics and promote
            tumor invasion
  JOURNAL   J Cell Biol 222 (6) (2023)
   PUBMED   37042842
  REMARK    GeneRIF: PIM1 phosphorylates ABI2 to enhance actin dynamics and
            promote tumor invasion.
REFERENCE   2  (residues 1 to 468)
  AUTHORS   Ergun S, Gunes S, Buyukalpelli R and Aydin O.
  TITLE     Association of Abl interactor 2, ABI2, with platelet/lymphocyte
            ratio in patients with renal cell carcinoma: A pilot study
  JOURNAL   Int J Exp Pathol 101 (3-4), 87-95 (2020)
   PUBMED   32496656
  REMARK    GeneRIF: Association of Abl interactor 2, ABI2, with
            platelet/lymphocyte ratio in patients with renal cell carcinoma: A
            pilot study.
REFERENCE   3  (residues 1 to 468)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 468)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (residues 1 to 468)
  AUTHORS   Lim IK, Choi JA, Kim EY, Kim BN, Jang S, Ryu MS and Shim SH.
  TITLE     TIS21/BTG2 inhibits doxorubicin-induced stress fiber-vimentin
            networks via Nox4-ROS-ABI2-DRF-linked signal cascade
  JOURNAL   Cell Signal 30, 179-190 (2017)
   PUBMED   27932314
  REMARK    GeneRIF: TIS21 attenuated Doxorubicin-induced cancer cell
            senescence by inhibiting linear actin nucleation via
            Nox4-ROS-ABI2-DRF signal cascade
REFERENCE   6  (residues 1 to 468)
  AUTHORS   Machado RD, Pauciulo MW, Fretwell N, Veal C, Thomson JR, Vilarino
            Guell C, Aldred M, Brannon CA, Trembath RC and Nichols WC.
  TITLE     A physical and transcript map based upon refinement of the critical
            interval for PPH1, a gene for familial primary pulmonary
            hypertension. The International PPH Consortium
  JOURNAL   Genomics 68 (2), 220-228 (2000)
   PUBMED   10964520
REFERENCE   7  (residues 1 to 468)
  AUTHORS   Courtney KD, Grove M, Vandongen H, Vandongen A, LaMantia AS and
            Pendergast AM.
  TITLE     Localization and phosphorylation of Abl-interactor proteins, Abi-1
            and Abi-2, in the developing nervous system
  JOURNAL   Mol Cell Neurosci 16 (3), 244-257 (2000)
   PUBMED   10995551
REFERENCE   8  (residues 1 to 468)
  AUTHORS   Juang JL and Hoffmann FM.
  TITLE     Drosophila abelson interacting protein (dAbi) is a positive
            regulator of abelson tyrosine kinase activity
  JOURNAL   Oncogene 18 (37), 5138-5147 (1999)
   PUBMED   10498863
REFERENCE   9  (residues 1 to 468)
  AUTHORS   Wang B, Mysliwiec T, Krainc D, Jensen RA, Sonoda G, Testa JR,
            Golemis EA and Kruh GD.
  TITLE     Identification of ArgBP1, an Arg protein tyrosine kinase binding
            protein that is the human homologue of a CNS-specific Xenopus gene
  JOURNAL   Oncogene 12 (9), 1921-1929 (1996)
   PUBMED   8649853
REFERENCE   10 (residues 1 to 468)
  AUTHORS   Dai Z and Pendergast AM.
  TITLE     Abi-2, a novel SH3-containing protein interacts with the c-Abl
            tyrosine kinase and modulates c-Abl transforming activity
  JOURNAL   Genes Dev 9 (21), 2569-2582 (1995)
   PUBMED   7590236
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC080075.7 and AC018891.9.
            
            Transcript Variant: This variant (7), as well as variant 8, encodes
            isoform f.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..468
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.2"
     Protein         1..468
                     /product="abl interactor 2 isoform f"
                     /note="abl-interacting protein 1 (SH3-containing protein);
                     abl binding protein 3; arg protein tyrosine kinase-binding
                     protein; abl-interactor protein 2b; abelson interactor 2;
                     arg-binding protein 1"
                     /calculated_mol_wt=50261
     Region          19..82
                     /region_name="Abi_HHR"
                     /note="Abl-interactor HHR; pfam07815"
                     /db_xref="CDD:429677"
     Region          <196..332
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          407..467
                     /region_name="SH3_Abi2"
                     /note="Src homology 3 domain of Abl Interactor 2; cd11972"
                     /db_xref="CDD:212905"
     Site            order(415,417,420,424,442..443,456,458..459)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212905"
     CDS             1..468
                     /gene="ABI2"
                     /gene_synonym="ABI-2; ABI2B; AblBP3; AIP-1; AIP1; argBP1;
                     argBPIA; argBPIB; SSH3BP2"
                     /coded_by="NM_001375662.1:340..1746"
                     /note="isoform f is encoded by transcript variant 7"
                     /db_xref="GeneID:10152"
                     /db_xref="HGNC:HGNC:24011"
                     /db_xref="MIM:606442"
ORIGIN      
        1 mldiqasqlr rmessinhis qtvdihkekv arreigiltt nkntsrthki iapanlerpv
       61 ryirkpidyt ilddighgvk wllrfkvstq nmkmgglprt tpptqkppsp pmsgkgtlgr
      121 hspyrtlepv rppvvpndyv psptrnmaps qqspvrtasv nqrnrtysss gssggshpss
      181 rsssrensgs gsvgvpiavp tpsppsvfpa pagsagtppl patsasapap lvpatvpsst
      241 apdaaaggaq tladgftspt ppvvsstppt ghpvqfysmn rpasrhtppt iggslpyrrp
      301 psitsqtslq nqmnggpfys qnpvslappp psilqvtpql plmgfvarvq enisdtpppp
      361 ppveepvfde sppppppped yeeeeaavve ysdpyaeedp pwaprsylek vvaiydytkd
      421 kedelsfqeg aiiyvikknd dgwyegvmng vtglfpgnyv esimhyse
//
LOCUS       NP_003585               1162 aa            linear   PRI 25-DEC-2022
DEFINITION  transcription termination factor 2 [Homo sapiens].
ACCESSION   NP_003585
VERSION     NP_003585.3
DBSOURCE    REFSEQ: accession NM_003594.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1162)
  AUTHORS   Miele A, Medina R, van Wijnen AJ, Stein GS and Stein JL.
  TITLE     The interactome of the histone gene regulatory factor HiNF-P
            suggests novel cell cycle related roles in transcriptional control
            and RNA processing
  JOURNAL   J Cell Biochem 102 (1), 136-148 (2007)
   PUBMED   17577209
REFERENCE   2  (residues 1 to 1162)
  AUTHORS   Jiang Y and Price DH.
  TITLE     Rescue of the TTF2 knockdown phenotype with an siRNA-resistant
            replacement vector
  JOURNAL   Cell Cycle 3 (9), 1151-1153 (2004)
   PUBMED   15467445
  REMARK    GeneRIF: Importantly, the mitotic phenotype seen with TTF2-siRNA is
            rescued by expression of the siRNA-resistant GFP-tagged TTF2
            proving that reduced TTF2 is responsible for the retention of RNA
            polymerase II on mitotic chromosomes.
REFERENCE   3  (residues 1 to 1162)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   4  (residues 1 to 1162)
  AUTHORS   Jiang Y, Liu M, Spencer CA and Price DH.
  TITLE     Involvement of transcription termination factor 2 in mitotic
            repression of transcription elongation
  JOURNAL   Mol Cell 14 (3), 375-385 (2004)
   PUBMED   15125840
  REMARK    GeneRIF: TTF2 is the only ATP-dependent termination activity
            associated with Pol II transcription elongation complexes, is
            largely unaffected by template position, and is impervious to the
            phosphorylation state of the polymerase.
REFERENCE   5  (residues 1 to 1162)
  AUTHORS   Leonard D, Ajuh P, Lamond AI and Legerski RJ.
  TITLE     hLodestar/HuF2 interacts with CDC5L and is involved in pre-mRNA
            splicing
  JOURNAL   Biochem Biophys Res Commun 308 (4), 793-801 (2003)
   PUBMED   12927788
  REMARK    GeneRIF: hLodestar/HuF2 interacts with CDC5L and is involved in
            pre-mRNA splicing
REFERENCE   6  (residues 1 to 1162)
  AUTHORS   Hara R, Selby CP, Liu M, Price DH and Sancar A.
  TITLE     Human transcription release factor 2 dissociates RNA polymerases I
            and II stalled at a cyclobutane thymine dimer
  JOURNAL   J Biol Chem 274 (35), 24779-24786 (1999)
   PUBMED   10455150
REFERENCE   7  (residues 1 to 1162)
  AUTHORS   Liu M, Xie Z and Price DH.
  TITLE     A human RNA polymerase II transcription termination factor is a
            SWI2/SNF2 family member
  JOURNAL   J Biol Chem 273 (40), 25541-25544 (1998)
   PUBMED   9748214
REFERENCE   8  (residues 1 to 1162)
  AUTHORS   Girdham CH and Glover DM.
  TITLE     Chromosome tangling and breakage at anaphase result from mutations
            in lodestar, a Drosophila gene encoding a putative nucleoside
            triphosphate-binding protein
  JOURNAL   Genes Dev 5 (10), 1786-1799 (1991)
   PUBMED   1916263
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL445231.8, AF073771.1,
            BC030058.1, AF080255.1, BQ422564.1, BI857056.1, BU182600.1,
            AW027795.1, H81916.1, AI991355.1 and AL391476.20.
            On Jan 13, 2004 this sequence version replaced NP_003585.2.
            
            Summary: This gene encodes a member of the SWI2/SNF2 family of
            proteins, which play a critical role in altering protein-DNA
            interactions. The encoded protein has been shown to have
            dsDNA-dependent ATPase activity and RNA polymerase II termination
            activity. This protein interacts with cell division cycle 5-like,
            associates with human splicing complexes, and plays a role in
            pre-mRNA splicing. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.123353.1, AF080255.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369466.9/ ENSP00000358478.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1162
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.1"
     Protein         1..1162
                     /product="transcription termination factor 2"
                     /note="lodestar protein; human factor 2; lodestar homolog;
                     transcription release factor 2; RNA polymerase II
                     termination factor; zinc finger, GRF-type containing 6;
                     transcription termination factor, RNA polymerase II"
                     /calculated_mol_wt=129458
     Region          6..39
                     /region_name="zf-GRF"
                     /note="GRF zinc finger; pfam06839"
                     /db_xref="CDD:429147"
     Region          97..116
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UNY4.2)"
     Region          142..358
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UNY4.2)"
     Region          <147..378
                     /region_name="PTZ00108"
                     /note="DNA topoisomerase 2-like protein; Provisional"
                     /db_xref="CDD:240271"
     Region          388..407
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UNY4.2)"
     Region          459..503
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UNY4.2)"
     Site            460
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9UNY4.2)"
     Region          570..820
                     /region_name="DEXHc_TTF2"
                     /note="DEAH-box helicase domain of TTF2; cd18072"
                     /db_xref="CDD:350830"
     Region          <573..1160
                     /region_name="HepA"
                     /note="Superfamily II DNA or RNA helicase, SNF2 family
                     [Transcription, Replication, recombination and repair];
                     COG0553"
                     /db_xref="CDD:223627"
     Site            order(598..604,659,737..738)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350830"
     Region          737..740
                     /region_name="DEAH box"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UNY4.2)"
     Region          871..890
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UNY4.2)"
     Site            883
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UNY4.2)"
     Site            908
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9UNY4.2)"
     CDS             1..1162
                     /gene="TTF2"
                     /gene_synonym="F2; HuF2; ZGRF6"
                     /coded_by="NM_003594.4:22..3510"
                     /db_xref="CCDS:CCDS892.1"
                     /db_xref="GeneID:8458"
                     /db_xref="HGNC:HGNC:12398"
                     /db_xref="MIM:604718"
ORIGIN      
        1 meevrcpehg tfcflktgvr dgpnkgksfy vcradtcsfv ratdipvshc llhedfvvel
       61 qglllpqdkk eyrlffrcir skaegkrwcg sipwqdpdsk ehsvsnksqh asetfhhssn
      121 wlrnpfkvld knqepalwkq likgegeekk adkkqrekgd qlfdqkkeqk pemmekdlss
      181 glvpkkkqsv vqekkqeega eiqceaetgg thkrdfseik sqqcqgnelt rpsassqeks
      241 sgksqdvqre seplrekvtq llpqnvhshn siskpqkggp lnkeytnwea ketkakdgps
      301 iqatqkslpq ghfqerpeth svpapggpaa qaapaapgls lgegreaats sddeeeddvv
      361 fvsskpgspl lfdstldlet kenlqfpdrs vqrkvspasg vskkvepsdp varrvylttq
      421 lkqkkstlas vniqalpdkg qklikqiqel eevlsgltls peqgtneksn sqvpqqshft
      481 ktttgpphlv ppqplprrgt qpvgslelks acqvtaggss qcyrghtnqd hvhavwkits
      541 eaigqlhrsl escpgetvva edpaglkvpl llhqkqalaw llwresqkpq ggiladdmgl
      601 gktltmiali ltqknqekke ekekstaltw lskddscdft shgtliicpa slihhwknev
      661 ekrvnsnklr vylyhgpnrd srarvlstyd ivittyslva keiptnkqea eipganlnve
      721 gtstpllria wariildeah nvknprvqts iavcklqaca rwavtgtpiq nnlldmysll
      781 kflrcspfde fnlwrsqvdn gskkggerls iltkslllrr tkdqldstgr plvilpqrkf
      841 qlhhlklsed eetvynvffa rsrsalqsyl krhesrgnqs grspnnpfsr valefgseep
      901 rhseaadspr sstvhilsql lrlrqccchl sllksaldpm elkgeglvls leeqlsaltl
      961 selrdsepss tvslngtffk melfegmres tkissllael eaiqrnsasq ksvivsqwtn
     1021 mlkvvalhlk khgltyatid gsvnpkqrmd lveafnhsrg pqvmlislla ggvglnltgg
     1081 nhlflldmhw npsledqacd riyrvgqqkd vvihrfvceg tveekilqlq ekkkdlakqv
     1141 lsgsgesvtk ltladlrvlf gi
//
LOCUS       NP_001316166             991 aa            linear   PRI 26-DEC-2022
DEFINITION  serine/threonine-protein kinase Nek9 isoform 1 [Homo sapiens].
ACCESSION   NP_001316166 XP_005268265
VERSION     NP_001316166.1
DBSOURCE    REFSEQ: accession NM_001329237.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 991)
  AUTHORS   Muller M, Eghbalian R, Boeckel JN, Frese KS, Haas J, Kayvanpour E,
            Sedaghat-Hamedani F, Lackner MK, Tugrul OF, Ruppert T, Tappu R,
            Martins Bordalo D, Kneuer JM, Piekarek A, Herch S, Schudy S, Keller
            A, Grammes N, Bischof C, Klinke A, Cardoso-Moreira M, Kaessmann H,
            Katus HA, Frey N, Steinmetz LM and Meder B.
  TITLE     NIMA-related kinase 9 regulates the phosphorylation of the
            essential myosin light chain in the heart
  JOURNAL   Nat Commun 13 (1), 6209 (2022)
   PUBMED   36266340
  REMARK    GeneRIF: NIMA-related kinase 9 regulates the phosphorylation of the
            essential myosin light chain in the heart.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 991)
  AUTHORS   Zhaoyu Z, Huanyu X, Yajie Z, Ziyu D, Hui L and Feng S.
  TITLE     Study on the Expression of lncRNA ATB and Nek9 in Breast Cancer
            Patients Based on Q-PCR Technology and Its Relationship with the
            Disease
  JOURNAL   Contrast Media Mol Imaging 2022, 2634080 (2022)
   PUBMED   35935324
  REMARK    GeneRIF: Study on the Expression of lncRNA ATB and Nek9 in Breast
            Cancer Patients Based on Q-PCR Technology and Its Relationship with
            the Disease.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 991)
  AUTHORS   Juratli HA, Jagle S, Theiler M, Didona D, Happle R, Knopfel N,
            Weibel L and Fischer J.
  TITLE     Three novel pathogenic NEK9 variants in patients with nevus
            comedonicus: A case series
  JOURNAL   J Am Acad Dermatol 86 (4), 958-960 (2022)
   PUBMED   33819539
  REMARK    GeneRIF: Three novel pathogenic NEK9 variants in patients with
            nevus comedonicus: A case series.
REFERENCE   4  (residues 1 to 991)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   5  (residues 1 to 991)
  AUTHORS   Nie H, Huang PQ, Jiang SH, Yang Q, Hu LP, Yang XM, Li J, Wang YH,
            Li Q, Zhang YF, Zhu L, Zhang YL, Yu Y, Xiao GG, Sun YW, Ji J and
            Zhang ZG.
  TITLE     The short isoform of PRLR suppresses the pentose phosphate pathway
            and nucleotide synthesis through the NEK9-Hippo axis in pancreatic
            cancer
  JOURNAL   Theranostics 11 (8), 3898-3915 (2021)
   PUBMED   33664869
  REMARK    GeneRIF: The short isoform of PRLR suppresses the pentose phosphate
            pathway and nucleotide synthesis through the NEK9-Hippo axis in
            pancreatic cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 991)
  AUTHORS   Belham C, Roig J, Caldwell JA, Aoyama Y, Kemp BE, Comb M and Avruch
            J.
  TITLE     A mitotic cascade of NIMA family kinases. Nercc1/Nek9 activates the
            Nek6 and Nek7 kinases
  JOURNAL   J Biol Chem 278 (37), 34897-34909 (2003)
   PUBMED   12840024
  REMARK    GeneRIF: Activated in mitosis, and activates nek6 and nek7 kinase.
REFERENCE   7  (residues 1 to 991)
  AUTHORS   Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C,
            Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A,
            Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H,
            Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon
            O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere
            F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R,
            Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A,
            Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S,
            Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C,
            Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S,
            Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C,
            Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P,
            Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois
            M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V,
            Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J,
            Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F,
            Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F,
            Waterston R, Hood L and Weissenbach J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
REFERENCE   8  (residues 1 to 991)
  AUTHORS   Roig J, Mikhailov A, Belham C and Avruch J.
  TITLE     Nercc1, a mammalian NIMA-family kinase, binds the Ran GTPase and
            regulates mitotic progression
  JOURNAL   Genes Dev 16 (13), 1640-1658 (2002)
   PUBMED   12101123
  REMARK    GeneRIF: binds the Ran GTPase and regulates mitotic progression
REFERENCE   9  (residues 1 to 991)
  AUTHORS   Holland PM, Milne A, Garka K, Johnson RS, Willis C, Sims JE, Rauch
            CT, Bird TA and Virca GD.
  TITLE     Purification, cloning, and characterization of Nek8, a novel
            NIMA-related kinase, and its candidate substrate Bicd2
  JOURNAL   J Biol Chem 277 (18), 16229-16240 (2002)
   PUBMED   11864968
REFERENCE   10 (residues 1 to 991)
  AUTHORS   Ohara O, Nagase T, Mitsui G, Kohga H, Kikuno R, Hiraoka S,
            Takahashi Y, Kitajima S, Saga Y and Koseki H.
  TITLE     Characterization of size-fractionated cDNA libraries generated by
            the in vitro recombination-assisted method
  JOURNAL   DNA Res 9 (2), 47-57 (2002)
   PUBMED   12056414
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049780.4.
            On Jul 8, 2016 this sequence version replaced XP_005268265.1.
            
            Summary: This gene encodes a member of the NimA (never in mitosis
            A) family of serine/threonine protein kinases. The encoded protein
            is activated in mitosis and, in turn, activates other family
            members during mitosis. This protein also mediates cellular
            processes that are essential for interphase progression. [provided
            by RefSeq, Jul 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.29099.1,
                                           SRR7346977.1886368.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..991
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     Protein         1..991
                     /product="serine/threonine-protein kinase Nek9 isoform 1"
                     /EC_number="2.7.11.1"
                     /note="serine/threonine-protein kinase Nek9; nercc1
                     kinase; nimA-related protein kinase 9; NIMA (never in
                     mitosis gene a)- related kinase 9"
                     /calculated_mol_wt=108326
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            13
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            16
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Region          18..43
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            20
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            29
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Region          51..308
                     /region_name="STKc_Nek9"
                     /note="Catalytic domain of the Protein Serine/Threonine
                     Kinase, Never In Mitosis gene A (NIMA)-related kinase 9;
                     cd08221"
                     /db_xref="CDD:270860"
     Site            52
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            order(58..62,66,79,81,112,128..131,135,137,176,178,
                     180..181,183,194,197,199,213..216)
                     /site_type="active"
                     /db_xref="CDD:270860"
     Site            order(58..59,61..62,66,79,81,112,129..131,135,181,183,199)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270860"
     Site            order(62,135,137,176,178,180,197,213..216)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270860"
     Site            76
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            order(193..205,207..216)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270860"
     Site            210
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:27153399,
                     ECO:0000305|PubMed:14660563; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            254
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            331
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            333
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8TD19.2)"
     Region          345..700
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          388..444
                     /region_name="RCC1 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD19.2)"
     Region          445..498
                     /region_name="RCC1 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD19.2)"
     Region          563..627
                     /region_name="RCC1 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD19.2)"
     Region          628..680
                     /region_name="RCC1 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD19.2)"
     Region          681..738
                     /region_name="RCC1 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD19.2)"
     Region          744..903
                     /region_name="Interaction with NEK6.
                     /evidence=ECO:0000269|PubMed:19001501"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD19.2)"
     Region          752..795
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            753
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            813
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Region          833..853
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            844
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            880
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            881
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            898
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Region          947..991
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            956
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     Site            990
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q8TD19.2)"
     CDS             1..991
                     /gene="NEK9"
                     /gene_synonym="APUG; LCCS10; NC; NERCC; NERCC1"
                     /coded_by="NM_001329237.2:128..3103"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS91908.1"
                     /db_xref="GeneID:91754"
                     /db_xref="HGNC:HGNC:18591"
                     /db_xref="MIM:609798"
ORIGIN      
        1 msvlgeyerh cdsinsdfgs esggcgdssp gpsasqgpra gggaaeqeel hyipirvlgr
       61 gafgeatlyr rteddslvvw kevdltrlse kerrdalnei vilallqhdn iiayynhfmd
      121 nttllieley cnggnlydki lrqkdklfee emvvwylfqi vsavscihka gilhrdiktl
      181 nifltkanli klgdyglakk lnseysmaet lvgtpyymsp elcqgvkynf ksdiwavgcv
      241 ifelltlkrt fdatnplnlc vkivqgiram evdssqysle liqmvhscld qdpeqrptad
      301 elldrpllrk rrremeekvt llnaptkrpr sstvteapia vvtsrtsevy vwgggkstpq
      361 kldviksgcs arqvcagnth favvtvekel ytwvnmqggt klhgqlghgd kasyrqpkhv
      421 eklqgkairq vscgddftvc vtdegqlyaf gsdyygcmgv dkvagpevle pmqlnfflsn
      481 pveqvscgdn hvvvltrnke vyswgcgeyg rgslvsvhff tgrlgldsee dyytpqkvdv
      541 pkaliivavq cgcdgtfllt qsgkvlacgl nefnklglnq cmsgiinhea yhevpyttsf
      601 tlakqlsfyk irtiapgkth taaidergrl ltfgcnkcgq lgvgnykkrl ginllggplg
      661 gkqvirvscg deftiaatdd nhifawgngg ngrlamtpte rphgsdicts wprpifgslh
      721 hvpdlscrgw htilivekvl nsktirsnss glsigtvfqs sspggggggg ggeeedsqqe
      781 setpdpsggf rgtmeadrgm eglispteam gnsngasssc pgwlrkelen aefipmpdsp
      841 splsaafses ekdtlpyeel qglkvaseap lehkpqveas sprlnpavtc agkgtpltpp
      901 acacsslqve verlqglvlk claeqqklqq enlqiftqlq klnkkleggq qvgmhskgtq
      961 takeememdp kpdldsdswc llgtdscrps l
//
LOCUS       NP_001350792             262 aa            linear   PRI 01-JAN-2023
DEFINITION  sulfotransferase 1A2 isoform 2 [Homo sapiens].
ACCESSION   NP_001350792 XP_024306173
VERSION     NP_001350792.1
DBSOURCE    REFSEQ: accession NM_001363863.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 262)
  AUTHORS   Monien BH, Sachse B, Meinl W, Abraham K, Lampen A and Glatt H.
  TITLE     Hemoglobin adducts of furfuryl alcohol in genetically modified
            mouse models: Role of endogenous sulfotransferases 1a1 and 1d1 and
            transgenic human sulfotransferases 1A1/1A2
  JOURNAL   Toxicol Lett 295, 173-178 (2018)
   PUBMED   29908303
  REMARK    GeneRIF: Suggest SULT1A1/1A2 play a central role in furfuryl
            alcohol bioactivation and the formation of hemoglobin adducts.
REFERENCE   2  (residues 1 to 262)
  AUTHORS   Shah IA, Bhat GA, Mehta P, Lone MM and Dar NA.
  TITLE     Genotypes of CYP1A1, SULT1A1 and SULT1A2 and risk of squamous cell
            carcinoma of esophagus: outcome of a case-control study from
            Kashmir, India
  JOURNAL   Dis Esophagus 29 (8), 937-943 (2016)
   PUBMED   26455829
  REMARK    GeneRIF: The polymorphism of SULT1A2*2 is not associated with
            esophageal squamous cell carcinoma risk.
REFERENCE   3  (residues 1 to 262)
  AUTHORS   Hui Y, Luo L, Zhang L, Kurogi K, Zhou C, Sakakibara Y, Suiko M and
            Liu MC.
  TITLE     Sulfation of afimoxifene, endoxifen, raloxifene, and fulvestrant by
            the human cytosolic sulfotransferases (SULTs): A systematic
            analysis
  JOURNAL   J Pharmacol Sci 128 (3), 144-149 (2015)
   PUBMED   26169578
  REMARK    GeneRIF: It metabolizes breast cancer drugs like afimoxifene and
            endoxifen by sulfation.
REFERENCE   4  (residues 1 to 262)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen
            AA, Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke
            L, Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM,
            Tiemeier H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst
            FC, Ward ME, Wright MJ, Davey Smith G, Deary IJ, Johannesson M,
            Plomin R, Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   5  (residues 1 to 262)
  AUTHORS   Fernandez-Santander A, Gaibar M, Novillo A, Romero-Lorca A, Rubio
            M, Chicharro LM, Tejerina A and Bandres F.
  TITLE     Relationship between genotypes Sult1a2 and Cyp2d6 and tamoxifen
            metabolism in breast cancer patients
  JOURNAL   PLoS One 8 (7), e70183 (2013)
   PUBMED   23922954
  REMARK    GeneRIF: SULT1A2 genotype also seems to play an important role in
            maintaining optimal levels of both 4OH-TAM and endoxifen.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 262)
  AUTHORS   Her C, Raftogianis R and Weinshilboum RM.
  TITLE     Human phenol sulfotransferase STP2 gene: molecular cloning,
            structural characterization, and chromosomal localization
  JOURNAL   Genomics 33 (3), 409-420 (1996)
   PUBMED   8661000
REFERENCE   7  (residues 1 to 262)
  AUTHORS   Zhu X, Veronese ME, Iocco P and McManus ME.
  TITLE     cDNA cloning and expression of a new form of human aryl
            sulfotransferase
  JOURNAL   Int J Biochem Cell Biol 28 (5), 565-571 (1996)
   PUBMED   8697101
REFERENCE   8  (residues 1 to 262)
  AUTHORS   Ozawa S, Nagata K, Shimada M, Ueda M, Tsuzuki T, Yamazoe Y and Kato
            R.
  TITLE     Primary structures and properties of two related forms of aryl
            sulfotransferases in human liver
  JOURNAL   Pharmacogenetics 5 Spec No, S135-S140 (1995)
   PUBMED   7581483
REFERENCE   9  (residues 1 to 262)
  AUTHORS   Yamazoe Y, Ozawa S, Nagata K, Gong DW and Kato R.
  TITLE     Characterization and expression of hepatic sulfotransferase
            involved in the metabolism of N-substituted aryl compounds
  JOURNAL   Environ Health Perspect 102 Suppl 6 (Suppl 6), 99-103 (1994)
   PUBMED   7889867
REFERENCE   10 (residues 1 to 262)
  AUTHORS   Yamazoe Y, Nagata K, Ozawa S and Kato R.
  TITLE     Structural similarity and diversity of sulfotransferases
  JOURNAL   Chem Biol Interact 92 (1-3), 107-117 (1994)
   PUBMED   8033246
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020765.8 and BC113727.1.
            On Jun 3, 2018 this sequence version replaced XP_024306173.1.
            
            Summary: Sulfotransferase enzymes catalyze the sulfate conjugation
            of many hormones, neurotransmitters, drugs, and xenobiotic
            compounds. These cytosolic enzymes are different in their tissue
            distributions and substrate specificities. The gene structure
            (number and length of exons) is similar among family members. This
            gene encodes one of two phenol sulfotransferases with thermostable
            enzyme activity. Two alternatively spliced variants that encode the
            same protein have been described. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.68893.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..262
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     Protein         1..262
                     /product="sulfotransferase 1A2 isoform 2"
                     /EC_number="2.8.2.1"
                     /note="phenolic-metabolizing (P) form of PST; arylamine
                     sulfotransferase; phenol-preferring phenol
                     sulfotransferase2; phenol-sulfating phenol
                     sulfotransferase 2; thermostable phenol sulfotransferase;
                     sulfotransferase 1A2; aryl sulfotransferase 2;
                     sulfotransferase family, cytosolic, 1A, phenol-preferring,
                     member 2"
                     /calculated_mol_wt=28929
     Region          38..254
                     /region_name="Sulfotransfer_1"
                     /note="Sulfotransferase domain; pfam00685"
                     /db_xref="CDD:425820"
     CDS             1..262
                     /gene="SULT1A2"
                     /gene_synonym="HAST4; P-PST; P-PST 2; ST1A2; STP2; TSPST2"
                     /coded_by="NM_001363863.2:219..1007"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS86513.1"
                     /db_xref="GeneID:6799"
                     /db_xref="HGNC:HGNC:11454"
                     /db_xref="MIM:601292"
ORIGIN      
        1 meliqdisrp pleyvkgvpl ikyfaealgp lqsfqarpdd llistypksg ttwvsqildm
       61 iyqggdlekc hrapifmrvp flefkvpgip sgvcvlgarg veedragasa hqtfpdpllr
      121 dgdsekhtsp ttpedtpapg sappdsvgse gqaiqastee psaaqnpkre iqkilefvgr
      181 slpeetvdlm vehtsfkemk knpmtnyttv rrefmdhsis pfmrkgmagd wkttftvaqn
      241 erfdadyaek magcslsfrs el
//
LOCUS       NP_001363158             827 aa            linear   PRI 10-FEB-2023
DEFINITION  inactive rhomboid protein 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001363158
VERSION     NP_001363158.1
DBSOURCE    REFSEQ: accession NM_001376229.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 827)
  AUTHORS   Sieber B, Lu F, Stribbling SM, Grieve AG, Ryan AJ and Freeman M.
  TITLE     iRhom2 regulates ERBB signalling to promote KRAS-driven tumour
            growth of lung cancer cells
  JOURNAL   J Cell Sci 135 (17) (2022)
   PUBMED   35971826
  REMARK    GeneRIF: iRhom2 regulates ERBB signalling to promote KRAS-driven
            tumour growth of lung cancer cells.
REFERENCE   2  (residues 1 to 827)
  AUTHORS   Liu Y, Kuang Q, Dai X, Zhan M, Zhou L, Zhu L and Wang B.
  TITLE     Deficiency in Inactive Rhomboid Protein2 (iRhom2) Alleviates
            Alcoholic Liver Fibrosis by Suppressing Inflammation and Oxidative
            Stress
  JOURNAL   Int J Mol Sci 23 (14), 7701 (2022)
   PUBMED   35887045
  REMARK    GeneRIF: Deficiency in Inactive Rhomboid Protein2 (iRhom2)
            Alleviates Alcoholic Liver Fibrosis by Suppressing Inflammation and
            Oxidative Stress.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 827)
  AUTHORS   Louis TJ, Qasem A and Naser SA.
  TITLE     Attenuation of Excess TNF-alpha Release in Crohn's Disease by
            Silencing of iRHOMs 1/2 and the Restoration of TGF-beta Mediated
            Immunosuppression Through Modulation of TACE Trafficking
  JOURNAL   Front Immunol 13, 887830 (2022)
   PUBMED   35585977
  REMARK    GeneRIF: Attenuation of Excess TNF-alpha Release in Crohn's Disease
            by Silencing of iRHOMs 1/2 and the Restoration of TGF-beta Mediated
            Immunosuppression Through Modulation of TACE Trafficking.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 827)
  AUTHORS   Giese AA, Babendreyer A, Krappen P, Gross A, Strnad P, Dusterhoft S
            and Ludwig A.
  TITLE     Inflammatory activation of surface molecule shedding by
            upregulation of the pseudoprotease iRhom2 in colon epithelial cells
  JOURNAL   Sci Rep 11 (1), 24230 (2021)
   PUBMED   34930929
  REMARK    GeneRIF: Inflammatory activation of surface molecule shedding by
            upregulation of the pseudoprotease iRhom2 in colon epithelial
            cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 827)
  AUTHORS   Skurski J, Dixit G, Blobel CP, Issuree PD and Maretzky T.
  TITLE     The Threshold Effect: Lipopolysaccharide-Induced Inflammatory
            Responses in Primary Macrophages Are Differentially Regulated in an
            iRhom2-Dependent Manner
  JOURNAL   Front Cell Infect Microbiol 10, 620392 (2021)
   PUBMED   33585287
  REMARK    GeneRIF: The Threshold Effect: Lipopolysaccharide-Induced
            Inflammatory Responses in Primary Macrophages Are Differentially
            Regulated in an iRhom2-Dependent Manner.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 827)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (residues 1 to 827)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 827)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
REFERENCE   9  (residues 1 to 827)
  AUTHORS   Risk,J.M., Field,E.A., Field,J.K., Whittaker,J., Fryer,A.,
            Ellis,A., Shaw,J.M., Friedmann,P.S., Bishop,D.T., Bodmer,J. et al.
  TITLE     Tylosis oesophageal cancer mapped
  JOURNAL   Nat Genet 8 (4), 319-321 (1994)
   PUBMED   7534553
REFERENCE   10 (residues 1 to 827)
  AUTHORS   Sato K, Mano H, Ariyama T, Inazawa J, Yazaki Y and Hirai H.
  TITLE     Molecular cloning and analysis of the human Tec protein-tyrosine
            kinase
  JOURNAL   Leukemia 8 (10), 1663-1672 (1994)
   PUBMED   7934162
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC015802.21.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.1171659.1,
                                           SRR14038193.367887.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..827
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     Protein         1..827
                     /product="inactive rhomboid protein 2 isoform 2"
                     /note="rhomboid family member 2; inactive rhomboid protein
                     2; rhomboid veinlet-like protein 5; rhomboid veinlet-like
                     protein 6"
                     /calculated_mol_wt=93249
     Region          99..282
                     /region_name="Rhomboid_SP"
                     /note="Rhomboid serine protease; pfam12595"
                     /db_xref="CDD:432658"
     Region          619..762
                     /region_name="Rhomboid"
                     /note="Rhomboid family; pfam01694"
                     /db_xref="CDD:426384"
     CDS             1..827
                     /gene="RHBDF2"
                     /gene_synonym="iRhom2; RHBDL5; RHBDL6; TOC; TOCG"
                     /coded_by="NM_001376229.1:931..3414"
                     /note="isoform 2 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS32744.1"
                     /db_xref="GeneID:79651"
                     /db_xref="HGNC:HGNC:20788"
                     /db_xref="MIM:614404"
ORIGIN      
        1 masadknggs vssvsssrlq srkppnlsit ipppeketqa pgeqdsmlpe rknpaylksv
       61 slqeprsrwq essekrpgfr rqaslsqsir kgaaqwfgvs gdwegqrqqw qrrslhhcsm
      121 rygrlkascq rdlelpsqea psfqgtespk pckmpkivdp largrafrhp eemdrphaph
      181 ppltpgvlsl tsftsvrsgy shlprrkrms vahmslqaaa allkgrsvld atgqrcrvvk
      241 rsfafpsfle edvvdgadtf dssffskeem ssmpddvfes pplsasyfrg iphsaspvsp
      301 dgvqiplkey grapvpgprr gkriaskvkh fafdrkkrhy glgvvgnwln rsyrrsisst
      361 vqrqlesfds hrpyftywlt fvhviitllv ictygiapvg faqhvttqlv lrnkgvyesv
      421 kyiqqenfwv gpssidlihl gakfspcirk dgqieqlvlr erdlerdsgc cvqndhsgci
      481 qtqrkdcset latfvkwqdd tgppmdksdl gqkrtsgavc hqdprtceep assgahiwpd
      541 ditkwpicte qarsnhtgfl hmdceikgrp ccigtkgsce ittreycefm hgyfheeatl
      601 csqvhcldkv cgllpflnpe vpdqfyrlwl slflhagvvh clvsvvfqmt ilrdleklag
      661 whriaiifil sgitgnlasa iflpyraevg pagsqfglla clfvelfqsw pllerpwkaf
      721 lnlsaivlfl ficgllpwid niahifgfls glllafaflp yitfgtsdky rkralilvsl
      781 lafaglfaal vlwlyiypin wpwiehltcf pftsrfceky eldqvlh
//
LOCUS       XP_006711235             375 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclic AMP-responsive element-binding protein 3-like protein 4
            isoform X2 [Homo sapiens].
ACCESSION   XP_006711235
VERSION     XP_006711235.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006711172.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..375
                     /product="cyclic AMP-responsive element-binding protein
                     3-like protein 4 isoform X2"
                     /calculated_mol_wt=41144
     Region          57..>134
                     /region_name="PCC"
                     /note="polycystin cation channel protein; TIGR00864"
                     /db_xref="CDD:188093"
     Region          198..258
                     /region_name="bZIP_CREB3"
                     /note="Basic leucine zipper (bZIP) domain of Cyclic
                     AMP-responsive element-binding protein 3 (CREB3) and
                     similar proteins: a DNA-binding and dimerization domain;
                     cd14689"
                     /db_xref="CDD:269837"
     Region          200..251
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:269837"
     Site            order(203..204,206..208,210..215,217..219)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:269837"
     Site            order(218,221..222,225..226,228..229,232..233,235..236,
                     239..240,242..243,246..247,249..250)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:269837"
     CDS             1..375
                     /gene="CREB3L4"
                     /gene_synonym="AIBZIP; ATCE1; CREB3; CREB4; hJAL; JAL"
                     /coded_by="XM_006711172.3:288..1415"
                     /db_xref="GeneID:148327"
                     /db_xref="HGNC:HGNC:18854"
                     /db_xref="MIM:607138"
ORIGIN      
        1 mdlgipdlld awleppedif stgsvlelgl hcpppevpgl qesepedflk lfidpnevyc
       61 seaspgsdsg isedpchpds ppapratssp mlyevvyeag alermqgetg pnvglisiql
      121 dqwspafmvp dscmvselpf dahahilpra gtvapvpctt llpcqtlflt deekrllgqe
      181 gvslpshlpl tkaeervlkk vrrkirnkqs aqdsrrrkke yidglesrva acsaqnqelq
      241 kkvqelerhn islvaqlrql qtliaqtsnk aaqtstcvli llfslaliil psfspfqsrp
      301 eagsedyqph gvtsrnilth kdvtenletq vvesrlrepp gakdangstr tllekmggkp
      361 rpsgrirsvl hadem
//
LOCUS       XP_047279396             322 aa            linear   PRI 20-MAR-2023
DEFINITION  protein odr-4 homolog isoform X3 [Homo sapiens].
ACCESSION   XP_047279396
VERSION     XP_047279396.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423440.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..322
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..322
                     /product="protein odr-4 homolog isoform X3"
                     /calculated_mol_wt=36146
     Region          28..313
                     /region_name="ODR4-like"
                     /note="Olfactory receptor 4-like; pfam14778"
                     /db_xref="CDD:434203"
     CDS             1..322
                     /gene="ODR4"
                     /gene_synonym="C1orf27; odr-4; TTG1"
                     /coded_by="XM_047423440.1:157..1125"
                     /db_xref="GeneID:54953"
                     /db_xref="HGNC:HGNC:24299"
                     /db_xref="MIM:609335"
ORIGIN      
        1 mgrtyiveet vgqylsninl qgkafvsgll igqcssqkdy vilatrtppk eeqsenlkhp
       61 kakldnldee watehacqlm faveksinrk rlwnfteeev servtlhica stkkifcrty
      121 dihdpkssar padwkyqsgl ssswlslect vhinihipls atsvsytlek ntkngltrwa
      181 keiengvyli ngqvkdedcd llegqkkssr gntqatshsf dvrvltqlll nsdhrstatv
      241 qicsgsvnlk gavkcrayih sskpkvkdav qavkrdilnt vadrcemlfe dlllneipek
      301 kilkksstss lieslfpfld pl
//
LOCUS       XP_006722680            1636 aa            linear   PRI 20-MAR-2023
DEFINITION  phospholipid-transporting ATPase ABCA7 isoform X9 [Homo sapiens].
ACCESSION   XP_006722680
VERSION     XP_006722680.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006722617.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1636
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..1636
                     /product="phospholipid-transporting ATPase ABCA7 isoform
                     X9"
                     /calculated_mol_wt=178628
     Region          1..>1610
                     /region_name="rim_protein"
                     /note="retinal-specific rim ABC transporter; TIGR01257"
                     /db_xref="CDD:130324"
     CDS             1..1636
                     /gene="ABCA7"
                     /gene_synonym="ABCA-SSN; ABCX; AD9"
                     /coded_by="XM_006722617.3:228..5138"
                     /db_xref="GeneID:10347"
                     /db_xref="HGNC:HGNC:37"
                     /db_xref="MIM:605414"
ORIGIN      
        1 mafwtqlmll lwknfmyrrr qpvqllvell wplflffilv avrhshpple hhechfpnkp
       61 lpsagtvpwl qglicnvnnt cfpqltpgee pgrlsnfnds lvsrlladar tvlggasahr
      121 tlaglgklia tlraarstaq pqptkqsple ppmldvaell tsllrteslg lalgqaqepl
      181 hslleaaedl aqellalrsl velrallqrp rgtsgplell sealcsvrgp sstvgpslnw
      241 yeasdlmelv gqepesalpd sslspacsel igaldshpls rllwrrlkpl ilgkllfapd
      301 tpftrklmaq vnrtfeeltl lrdvrevwem lgpriftfmn dssnvamlqr llqmqdegrr
      361 qprpggrdhm ealrsfldpg sggyswqdah advghlvgtl grvteclsld kleaapseaa
      421 lvsralqlla ehrfwagvvf lgpedssdpt ehptpdlgpg hvrikirmdi dvvtrtnkir
      481 drfwdpgpaa dpltdlryvw ggfvylqdlv eraavrvlsg anpraglylq qmpypcyvdd
      541 vflrvlsrsl plfltlawiy svtltvkavv reketrlrdt mramglsrav lwlgwflscl
      601 gpfllsaall vlvlklgdil pyshpgvvfl flaafavatv tqsfllsaff sranlaaacg
      661 glayfslylp yvlcvawrdr lpaggrvaas llspvafgfg ceslalleeq gegaqwhnvg
      721 trptadvfsl aqvsglllld aalyglatwy leavcpgqyg ipepwnfpfr rsywcgprpp
      781 kspapcptpl dpkvlveeap pglspgvsvr slekrfpgsp qpalrglsld fyqghitafl
      841 ghngagkttt lsilsglfpp sggsafilgh dvrssmaair phlgvcpqyn vlfdmltvde
      901 hvwfygrlkg lsaavvgpeq drllqdvglv skqsvqtrhl sggmqrklsv aiafvggsqv
      961 vildeptagv dpasrrgiwe lllkyregrt lilsthhlde aellgdrvav vaggrlcccg
     1021 splflrrhlg sgyyltlvka rlplttneka dtdmegsvdt rqekkngsqg srvgtpqlla
     1081 lvqhwvpgar lveelphelv lvlpytgahd gsfatlfrel dtrlaelrlt gygisdtsle
     1141 eiflkvveec aadtdmedgs cgqhlctgia gldvtlrlkm ppqetaleng epagsapetd
     1201 qgsgpdavgr vqgwaltrqq lqalllkrfl larrsrrglf aqivlpalfv glalvfsliv
     1261 ppfghypalr lsptmygaqv sffsedapgd pgrarlleal lqeagleepp vqhsshrfsa
     1321 pevpaevakv lasgnwtpes pspacqcsrp garrllpdcp aaaggppppq avtgsgevvq
     1381 nltgrnlsdf lvktyprlvr qglktkkwvn evryggfslg grdpglpsgq elgrsveelw
     1441 allsplpgga ldrvlknlta wahsldaqds lkiwfnnkgw hsmvafvnra snailrahlp
     1501 pgparhahsi ttlnhplnlt keqlsegalm assvdvlvsi cvvfamsfvp asftlvliee
     1561 rvtrakhlql mgglsptlyw lgnflwdmcn ylvpacivvl iflafqqray vapanlpall
     1621 lllllygasq sewllq
//
LOCUS       XP_011528302             640 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein EWS isoform X11 [Homo sapiens].
ACCESSION   XP_011528302
VERSION     XP_011528302.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011530000.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..640
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..640
                     /product="RNA-binding protein EWS isoform X11"
                     /calculated_mol_wt=66720
     Region          <72..207
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          362..445
                     /region_name="RRM_EWS"
                     /note="RNA recognition motif (RRM) found in vertebrate
                     Ewing Sarcoma Protein (EWS); cd12533"
                     /db_xref="CDD:409950"
     Region          519..>544
                     /region_name="zf-RanBP"
                     /note="Zn-finger in Ran binding protein and others;
                     pfam00641"
                     /db_xref="CDD:395516"
     Region          523..544
                     /region_name="RanBP2-type Zn finger"
                     /note="RanBP2-type Zn finger [structural motif]"
                     /db_xref="CDD:275376"
     CDS             1..640
                     /gene="EWSR1"
                     /gene_synonym="bK984G1.4; EWS; EWS-FLI1"
                     /coded_by="XM_011530000.3:70..1992"
                     /db_xref="GeneID:2130"
                     /db_xref="HGNC:HGNC:3508"
                     /db_xref="MIM:133450"
ORIGIN      
        1 mastdystys qaaaqqgysa ytaqptqgya qttqqaygqq sygtygqptd vsytqaqtta
       61 tygqtayats ygqpptgytt ptapqaysqp vqgygtgayd tttatvtttq asyaaqsayg
      121 tqpaypaygq qpaataptrp qdgnkptets qpqsstggyn qpslgygqsn ysypqvpgsy
      181 pmqpvtapps ypptsysstq ptsydqssys qqntygqpss ygqqssygqq ssygqqppts
      241 yppqtgsysq apsqysqqss sygqqssfrq dhpssmgvyg qesggfsgpg enrsmsgpdn
      301 rgrgrggfdr ggmsrggrgg grggmgsage rggfnkpggp mdegpdldlg ppvdpdedsd
      361 nsaiyvqgln dsvtlddlad ffkqcgvvkm nkrtgqpmih iyldketgkp kgdatvsyed
      421 pptakaavew fdgkdfqgsk lkvslarkkp pmnsmrgglp pregrgmppp lrggpggpgg
      481 pggpmgrmgg rggdrggfpp rgprgsrgnp sgggnvqhra gdwqcpnpgc gnqnfawrte
      541 cnqcgdrgrg gpggmrggrg glmdrggpgg mfrggrggdr ggfrggrgmd rggfgggrrg
      601 gpggppgplm eqmggrrggr ggpgkmdkge hrqerrdrpy
//
LOCUS       XP_016865250            3188 aa            linear   PRI 20-MAR-2023
DEFINITION  ciliogenesis and planar polarity effector 1 isoform X18 [Homo
            sapiens].
ACCESSION   XP_016865250
VERSION     XP_016865250.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009761.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3188
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..3188
                     /product="ciliogenesis and planar polarity effector 1
                     isoform X18"
                     /calculated_mol_wt=360074
     Region          2851..3181
                     /region_name="Joubert"
                     /note="Joubert syndrome-associated; pfam15392"
                     /db_xref="CDD:434690"
     CDS             1..3188
                     /gene="CPLANE1"
                     /gene_synonym="C5orf42; Hug; JBTS17; OFD6"
                     /coded_by="XM_017009761.3:152..9718"
                     /db_xref="GeneID:65250"
                     /db_xref="HGNC:HGNC:25801"
                     /db_xref="MIM:614571"
ORIGIN      
        1 matcllvgkd awlagvlttg elflwnkdqd clktipitek pkemikatva sslrlylyvs
       61 gngkrivlit psgciflwey lelknilssk slslagrwsq vipeeavllp stedkeavvn
      121 avfiknelfg dcclcsftfy sgeclkltfl airwhenvft svrslpyhvh waqqdchlcs
      181 lipkcesvks rgalisafsr dgltlavtln qkdpkatqvl fintlnfvtl cgslkgcsnk
      241 spvvpatlir sywvgdiswt hdslflacml krgslvlltc qgelltlitf gcsiefgpae
      301 fiplhplity rpqqftfqds nnsvdssasd sdpmrqrfsi kahsrlpylv isdgymvttl
      361 rfldslspsv hmrsllldst qrlekiyqsv ilskpkgkgl nlrslnslrs sllehqgnes
      421 sadftvpkfl qaeetinena adfqdfeaee tnegrhfpdn lcpfwnkrdd vlcssmkegr
      481 lefasmfdti hakddseetd rtitelhsiq ksllaawtig isktvteknl mlnyivvcit
      541 hffyilqfik cpfpkldlvl skssrhnawi lcifqlfhqc lsihywdiry kqdvghlikl
      601 tsntvklllt qqqkgqlfse kllacfyllk mvadnlngvy ilqpevisas adgskitaqd
      661 slvvpifqmf qdsgfqknws wnsffkihpq vvnpvqqpgh rllilwrily kktlwyqaql
      721 nrrvpeadsq ltekmtheas tvksllchlq anlqstgdcl nqtlelksin geecfllgsy
      781 eksvqlwkka lqeieekggr rtyflqiryy lsllychlys ynlndaqglc dqlareilrw
      841 sqlpvkenkd fsgaakshfe cgmvggvhpe aavrvvqsma rfmaayftnq qlcilpphhv
      901 nvlpplhikt eqsfrliplq hskvasvvrd qnlsnvwtve yalellfigg lvpeavwlay
      961 klgdwktsvs igvafqlfck rdsnfmrskk kslnlplrmt paqifqeklq cvlgqpasle
     1021 aknemgskyk qftdpieeed anllfgsvqe vlkasvmada dilsetfqll idsakdfskr
     1081 lwglvpfgly lpapplycpq pailseedgd dlllkaeknn rqkvsgilqr vlllfraaqc
     1141 sfpvaqwyil qlrwarkvmq kirmkgslps lspfpqslln yckggiaffr pgaagdhkld
     1201 evsiraigcf relcalcwml hvrdklsysc rqyqkarenv kgekdlevef dscmiehcls
     1261 avewayrmlp fsrffnmeel iqdiilslig elppirkvae ifvkafpype dvrvplrdky
     1321 hslhqrlrhc vvkgpqteem msvvmhsiqk vrvkalkrvq rnigsfevni wepieeekpd
     1381 eapgvdrysl gtslsrstlt elgdsvvhsd adtfsealsv eeksriniyq rnapnhmelt
     1441 sihkptdkrk mcnqkenptk kedheklsqn tlpvigvwef erdddeyikf ldlflsyile
     1501 rdlpysrdad ipfltsfsgk lrehelnsll fdvhttlkrh qsktksqnvf ragscfvvap
     1561 esyeseksss lndeygmhle nqklsssvlv nqgikpflqy psnevnkneg msglfglkqr
     1621 siykiqddtr ekcliqrssn hifwtpksik trrcifkaiq cndinpqedl plalntfgsi
     1681 grllewmirw snrrllcdsg itessseysp virvktstaa iltslwlleq pyfatykakn
     1741 aiikmvenrd tgcqigpnie resksdaggs vavatpggte erngqnkscq nilnrmptea
     1801 knpdikeind diisithntk kefididenl leveafteee mdmhisdyee dieesvggfr
     1861 spslaicmmt lpqqleeeft eevqcqreep letimeekst eqkgmieafs hpghttpqsm
     1921 qvdtsseiss aqistykeks ssvpllisng vnvasqppap tpqktqrnef taqlpdcses
     1981 vrqmlqdemf klvqlqqinf mslmqivgss fanlpdtqql vqqsqsvhlg esqesnlrgc
     2041 gdvedsnknl kerffikpqs mgenareprk nsphchegti psgqnstgnv qnvphgsipl
     2101 cqlngqprkk gpipssqnlp stsfypapag nthlyllstp svvqkaprli phaktfspgd
     2161 gfpllqfksk qefqplflht gsipqvpfrp lpqpreawgl sdsfqpalpq raaqttpash
     2221 lnvsqyntea rkkeveqktw aetviteipn hvnldqyvgq enltpqqdss vfikpeklfd
     2281 vkpgtleisp hhsfglplly lplkppnmfp stsrasitvp stpiqpiaee rkyprlsllh
     2341 shlspenrck ktqliplenl iafkqsqqkl thnlfeqgda ghlqllkvki eppevrqgkd
     2401 skkrqrrrae kelqekrcek lrrkpnvtfr pensiinndd seiikkpkeq qehcgshpld
     2461 dfdvpfemlq ddntsaglhf masvkkkaig sqdastntdp ehepltapql lvpdvylnlk
     2521 lssemsekpw spsiphtvtn lvghtyinvi dieandllqe lpvreepsnd nvikqqsdhl
     2581 avpssaelhy maasvtnavp phnfksqevt pacldgkslr agitevkeps vtsptpsdiq
     2641 qnkglpkpef rfkgqstksd saedyllwkr lqgvsaacpa pssaahqleh lsaklqkide
     2701 qllaiqniae nieqdfpkpe mldlhcdkig pvdhiefssg pefkktlask tisiseevrf
     2761 lthmdeedqs dkketsepef sitenysgqk tcvfptadsa vslssssdqn ttspgmnssd
     2821 elcesvsvhp lqmtgltdia diiddliikd gvsseelglt eqamgtsriq hysgrhsqrt
     2881 dkerreiqaw mkrkrkerma kylnelaekr gqehdpfcpr snplymtsre irlrqkmkhe
     2941 kdrlllsehy srrisqaygl mnellsesvq lptlpqkplp nkpsptqsss cqhcpsprge
     3001 nqhghsflin rpgkvkymsk psyihkrksf gqpqgspwph gtatftiqkk aggakaavrk
     3061 atqspvtfqk gsnapchslq htkkhgsagl apqtkqvcve yereetvvsp wtipseihki
     3121 lheshnsllq dlspteeeep ehpfgvggvd svsestgsil skldwnaied mvasvedqgl
     3181 svhwaldl
//
LOCUS       XP_054185075             426 aa            linear   PRI 20-MAR-2023
DEFINITION  poly(A)-specific ribonuclease PARN isoform X5 [Homo sapiens].
ACCESSION   XP_054185075
VERSION     XP_054185075.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329100.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187607.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..426
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.12-12.3"
     Protein         1..426
                     /product="poly(A)-specific ribonuclease PARN isoform X5"
                     /calculated_mol_wt=48856
     CDS             1..426
                     /gene="PARN"
                     /gene_synonym="DAN; DKCB6; PFBMFT4"
                     /coded_by="XM_054329100.1:151..1431"
                     /db_xref="GeneID:5073"
                     /db_xref="HGNC:HGNC:8609"
                     /db_xref="MIM:604212"
ORIGIN      
        1 meiirsnfks nlhkvyqaie eadffaidge fsgisdgpsv saltngfdtp eeryqklkkh
       61 smdfllfqfg lctfkydytd skyitksfnf yvfpkpfnrs spdvkfvcqs ssidflasqg
      121 fdfnkvfrng ipylnqeeer qlreqydekr sqangagals yvspntskcp vtipedqkkf
      181 idqvvekied llqseenknl dlepctgfqr kliyqtlswk ypkgihvetl etekkeryiv
      241 iskvdeeerk rreqqkhake qeelndavgf srvihaians gklvighnml ldvmhtvhqf
      301 ycplpadlse fkemttcvfp rlldtklmas tqpfkdiinn tslaelekrl ketpfnppkv
      361 esaegfpsyd taseqlheag ydayitglcf ismanylgsf lsppkihvsa rskliepffn
      421 kvplei
//
LOCUS       XP_054178242             788 aa            linear   PRI 20-MAR-2023
DEFINITION  mediator of RNA polymerase II transcription subunit 25 isoform X2
            [Homo sapiens].
ACCESSION   XP_054178242
VERSION     XP_054178242.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322267.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..788
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..788
                     /product="mediator of RNA polymerase II transcription
                     subunit 25 isoform X2"
                     /calculated_mol_wt=82181
     CDS             1..788
                     /gene="MED25"
                     /gene_synonym="ACID1; ARC92; BVSYS; CMT2B2; P78; PTOV2;
                     TCBAP0758"
                     /coded_by="XM_054322267.1:208..2574"
                     /db_xref="GeneID:81857"
                     /db_xref="HGNC:HGNC:28845"
                     /db_xref="MIM:610197"
ORIGIN      
        1 maafpaalnr ptrararrrr isahsaasaa aavvvagtar gmvpgsegpa ragsvvadvv
       61 fviegtanlg pyfeglrkhy llpaieyfng gppaetdfgg dyggtqyslv vfntvdcape
      121 syvqchapts sayefvtwld gikfmgggge scsliaegls talqlfddfk kmreqigqth
      181 rvcllicnsp pyllpavest tysgcttenl vqqigergih fsivsprklp alrllfekaa
      241 ppalleplqp ptdvsqdprh mvlvrglvlp vgggsapgpl qskqpvplpp aapsgatlsa
      301 apqqplppvp pqyqvpgnls aaqvaaqnav eaaknqkagl gprfspitpl qqaapgvgpp
      361 fsqapapqlp pgppgapkpp pasqpslvst vapgsglapt aqpgapsmag tvapggvsgp
      421 spaqlgapal ggqqsvsnkl lawsgvlewq ekpkpasvda ntkltrslpc qvyvnhgenl
      481 kteqwpqkli mqlipqqllt tlgplfrnsr mvqfhftnkd leslkglyri mgngfagcvh
      541 fphtapcevr vlmllysskk kifmglipyd qsgfvngirq vitnhkqvqq qkleqqqrgm
      601 ggqqappglg piledqarps qnllqlrppq pqpqgtvgas gatgqpqpqg taqpppgapq
      661 gppgaasgpp ppgpilrpqn pganpqlrsl llnppppqtg vpppqaslhh lqppgapall
      721 ppphqglgqp qlgppllhpp paqswpaqlp praplpgqml lsggprgpvp qpglqpsvme
      781 ddilmdli
//
LOCUS       XP_054178297            1346 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 541 isoform X2 [Homo sapiens].
ACCESSION   XP_054178297
VERSION     XP_054178297.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322322.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1346
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1346
                     /product="zinc finger protein 541 isoform X2"
                     /calculated_mol_wt=145443
     CDS             1..1346
                     /gene="ZNF541"
                     /coded_by="XM_054322322.1:344..4384"
                     /db_xref="GeneID:84215"
                     /db_xref="HGNC:HGNC:25294"
                     /db_xref="MIM:619942"
ORIGIN      
        1 mdqyslgdeg alpsemhlps fsesqglncs dtlnrdlgpn trgflyagls gldpdpslpt
       61 pdmssevled nldtlslysg kdsdsvklle eyadsesqas lqdlglgvlk akeadeggra
      121 tsgsarkgkr qhsspqnpll dcslcgkvfs sasslskhyl thsqerkhvc kicskafkrq
      181 dhltghmlth qktkpfvcie qgcsksycdy rslrrhyevh hglcilkeap peeeacgdsp
      241 hahesagqpp psslrslvpp earspgsllp hrdllrrivs sivhqktpsp gpapagasds
      301 egrntacpcp assgsssctp agphaapaal dtelpeepcl pqkepatdvf tapnsraaen
      361 gapdppepep dtallqarst aecwpeggsv paclplfrgq tvpassqpss hsfqwlrnlp
      421 gcpkskgnnv fvvhkpsavp sregsesgpg pssgspsees ppgpgggled alpfpaallr
      481 vpaeapsdpr sasgeddpca pkkvkvdcds flcqnpgepg lqeaqkaggl padasplfrq
      541 lflksqeplv sheqmqvfqm itksqrifsh aqvaavssql papegkpaal rplqgpwpqq
      601 ppplapavds lhagpgnpea egsparrrkt tpgvpreasp gstrrdakgg lkvaavptpl
      661 aapsldpsrn pdisslakql rsskgsldle difpstgqrq tqlggeeppg aslpgkqapa
      721 engaasritk gekgpacsrg ggyrllgnpr aprfsgfrke kakmdmccaa spsqvamasf
      781 ssagppadps kskltifsri qggniyrlph pvkeenvagr gnqqngsptd wtkprstfvc
      841 kncsqmfyte kglsshmcfh sdqwpsprgk qepqvfgtef ckplrqvlrp egdrhsppgt
      901 kkpldptaaa plvvpqsipv vpvtrhigsm amgqekdgee rdskessqqr krkkrpppst
      961 agepgpagch qsrlrspmfl vdcllkglfq cspytpppml spiregsgvy fntlcststq
     1021 aspdqlissm ldqvdgsfgi cvvkddtkis iephinigsr fqaeipelqe rslagtdehv
     1081 aslvwkpwgd mmissetqdr vtelcnvacs svmpgggtnl elalhclhea qgnvqvalet
     1141 lllrgphkpr thlladyryt gsdvwtpiek rlfkkafyah kkdfylihkm iqtktvaqcv
     1201 eyyyiwkkmi kfdcgrapgl ekrvkrepee verteekvpc sprerpshhp tpklktksyr
     1261 resilssspn agskrtpell gsaesqgifp crecervfdk iksrnahmkr hrlqdhvepi
     1321 irvkwpvkpf qlkeeelgad igplqw
//
LOCUS       XP_054213245             362 aa            linear   PRI 20-MAR-2023
DEFINITION  RING finger protein 32 isoform X1 [Homo sapiens].
ACCESSION   XP_054213245
VERSION     XP_054213245.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357270.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..362
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..362
                     /product="RING finger protein 32 isoform X1"
                     /calculated_mol_wt=41385
     CDS             1..362
                     /gene="RNF32"
                     /gene_synonym="FKSG33; HSD15; LMBR2"
                     /coded_by="XM_054357270.1:126..1214"
                     /db_xref="GeneID:140545"
                     /db_xref="HGNC:HGNC:17118"
                     /db_xref="MIM:610241"
ORIGIN      
        1 mlknkghssk kdnlavnava lqdhilhdlq lrnlsvadhs ktqvqkkenk slkrdtkaii
       61 dtglkkttqc pkledsekey vldpkppplt laqklgligp pppplssdew ekvkqrsllq
      121 gdsvqpcpic keefelrpqv llscshvfhk aclqafekft nkktcplcrk nqyqtrvihd
      181 garlfrikcv triqaywrgc vvrkwyrnlr ktvpptdakl rkkffekkft eishrilcsy
      241 ntnieelfae idqclainrs vlqqleekcg heiteeewek iqvqalrret hecsiclapl
      301 saaggqrvga grrsremall scshvfhhac llaleefsvg drppfhacpl crscyqkkil
      361 ec
//
LOCUS       NP_001309091             706 aa            linear   PRI 26-MAR-2023
DEFINITION  transcription factor 12 isoform a [Homo sapiens].
ACCESSION   NP_001309091
VERSION     NP_001309091.1
DBSOURCE    REFSEQ: accession NM_001322162.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 706)
  AUTHORS   Liu L, Zhou X, Cheng S, Ge Y, Chen B, Shi J, Li H, Li S, Li Y, Yuan
            J, Wu A, Liu X, Huang S, Xu Z and Dong J.
  TITLE     RNA-binding protein DHX9 promotes glioma growth and
            tumor-associated macrophages infiltration via TCF12
  JOURNAL   CNS Neurosci Ther 29 (4), 988-999 (2023)
   PUBMED   36377508
  REMARK    GeneRIF: RNA-binding protein DHX9 promotes glioma growth and
            tumor-associated macrophages infiltration via TCF12.
REFERENCE   2  (residues 1 to 706)
  AUTHORS   Li XP, Jia YL, Duan YQ, Zhao Y, Yin XL, Zhen SM, Zhang Y and Liu
            LH.
  TITLE     Circular RNA hsa_circ_0002938 (circCRIM1) promotes the progression
            of esophageal squamous cell carcinoma by upregulating transcription
            factor 12
  JOURNAL   Neoplasma 70 (1), 145-157 (2023)
   PUBMED   36916930
  REMARK    GeneRIF: Circular RNA hsa_circ_0002938 (circCRIM1) promotes the
            progression of esophageal squamous cell carcinoma by upregulating
            transcription factor 12.
REFERENCE   3  (residues 1 to 706)
  AUTHORS   Lacroix G, Karnoub MA, Vinchon M, Wolber A, Martinot V and
            Guerreschi P.
  TITLE     Auricles Anomalies in Patients With a TCF12 Gene Mutation
  JOURNAL   J Craniofac Surg 34 (1), 302-305 (2023)
   PUBMED   35994750
  REMARK    GeneRIF: Auricles Anomalies in Patients With a TCF12 Gene Mutation.
REFERENCE   4  (residues 1 to 706)
  AUTHORS   Choi TM, Lijten OW, Mathijssen IMJ, Wolvius EB and Ongkosuwito EM.
  TITLE     Craniofacial morphology and growth in Muenke syndrome,
            Saethre-Chotzen syndrome, and TCF12-related craniosynostosis
  JOURNAL   Clin Oral Investig 26 (3), 2927-2936 (2022)
   PUBMED   34904178
  REMARK    GeneRIF: Craniofacial morphology and growth in Muenke syndrome,
            Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
REFERENCE   5  (residues 1 to 706)
  AUTHORS   Goos H, Kinnunen M, Salokas K, Tan Z, Liu X, Yadav L, Zhang Q, Wei
            GH and Varjosalo M.
  TITLE     Human transcription factor protein interaction networks
  JOURNAL   Nat Commun 13 (1), 766 (2022)
   PUBMED   35140242
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 706)
  AUTHORS   Zhang Y, Doyle K and Bina M.
  TITLE     Interactions of HTF4 with E-box motifs in the long terminal repeat
            of human immunodeficiency virus type 1
  JOURNAL   J Virol 66 (9), 5631-5634 (1992)
   PUBMED   1501295
REFERENCE   7  (residues 1 to 706)
  AUTHORS   Hu JS, Olson EN and Kingston RE.
  TITLE     HEB, a helix-loop-helix protein related to E2A and ITF2 that can
            modulate the DNA-binding ability of myogenic regulatory factors
  JOURNAL   Mol Cell Biol 12 (3), 1031-1042 (1992)
   PUBMED   1312219
REFERENCE   8  (residues 1 to 706)
  AUTHORS   Zhang Y and Bina M.
  TITLE     The nucleotide sequence of the human transcription factor HTF4a
            cDNA
  JOURNAL   DNA Seq 2 (6), 397-403 (1992)
   PUBMED   1446075
REFERENCE   9  (residues 1 to 706)
  AUTHORS   Sommer L, Hagenbuchle O, Wellauer PK and Strubin M.
  TITLE     Nuclear targeting of the transcription factor PTF1 is mediated by a
            protein subunit that does not bind to the PTF1 cognate sequence
  JOURNAL   Cell 67 (5), 987-994 (1991)
   PUBMED   1720355
REFERENCE   10 (residues 1 to 706)
  AUTHORS   Zhang Y, Babin J, Feldhaus AL, Singh H, Sharp PA and Bina M.
  TITLE     HTF4: a new human helix-loop-helix protein
  JOURNAL   Nucleic Acids Res 19 (16), 4555 (1991)
   PUBMED   1886779
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010999.6, AC090511.3,
            AC090532.1 and AC016525.11.
            
            Summary: The protein encoded by this gene is a member of the basic
            helix-loop-helix (bHLH) E-protein family that recognizes the
            consensus binding site (E-box) CANNTG. This encoded protein is
            expressed in many tissues, among them skeletal muscle, thymus, B-
            and T-cells, and may participate in regulating lineage-specific
            gene expression through the formation of heterodimers with other
            bHLH E-proteins. Several alternatively spliced transcript variants
            of this gene have been described, but the full-length nature of
            some of these variants has not been determined. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.43749.1,
                                           SRR1660809.117926.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..706
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     Protein         1..706
                     /product="transcription factor 12 isoform a"
                     /note="helix-loop-helix transcription factor 4;
                     E-box-binding protein; DNA-binding protein HTF4;
                     transcription factor HTF-4; class B basic helix-loop-helix
                     protein 20"
                     /calculated_mol_wt=75714
     Region          595..679
                     /region_name="bHLH_E-protein_TCF4_E2-2"
                     /note="basic helix-loop-helix (bHLH) domain found in
                     transcription factor 4 (TCF-4) and similar proteins;
                     cd18945"
                     /db_xref="CDD:381515"
     Site            order(603,607,609..611,613,618,639..640)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381515"
     Site            order(616..617,620..621,623..624,627,631,641,644,648,651,
                     654..659)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381515"
     CDS             1..706
                     /gene="TCF12"
                     /gene_synonym="bHLHb20; CRS3; HEB; HH26; HsT17266; HTF4;
                     p64; TCF-12"
                     /coded_by="NM_001322162.2:165..2285"
                     /note="isoform a is encoded by transcript variant 16"
                     /db_xref="CCDS:CCDS10160.1"
                     /db_xref="GeneID:6938"
                     /db_xref="HGNC:HGNC:11623"
                     /db_xref="MIM:600480"
ORIGIN      
        1 mnpqqqrmaa igtdkelsdl ldfsamfspp vnsgktrptt lgssqfsgsg iderggttsw
       61 gtsgqpspsy dssrgftdsp hysdhlndsr lgaheglspt pfmnsnlmgk tsergsfsly
      121 srdtglpgcq ssllrqdlgl gspaqlsssg kpgtayysfs atssrrrplh dsaaldplqa
      181 kkvrkvppgl pssvyapspn sddfnresps ypspkpptsm fastffmqdg thnssdlwss
      241 sngmsqpgfg gilgtstshm sqsssygnlh shdrlsypph svsptdints lppmssfhrg
      301 stssspyvaa shtppingsd silgtrgnaa gssqtgdalg kalasiyspd htsssfpsnp
      361 stpvgspspl tgtsqwprpg gqapsspsye nslhslknrv eqqlhehlqd amsflkdvce
      421 qsrmedrldr lddaihvlrn havgpstslp aghsdihsll gpshnapigs lnsnyggssl
      481 vassrsasmv gthredsvsl ngnhsvlsst vttsstdlnh ktqenyrggl qsqsgtvvtt
      541 eiktenkekd enlheppssd dmksddessq kdikvssrgr tsstnededl npeqkierek
      601 errmannare rlrvrdinea fkelgrmcql hlksekpqtk llilhqavav ilsleqqvre
      661 rnlnpkaacl krreeekvsa vsaeppttlp gthpglsett npmghm
//
LOCUS       NP_031368                423 aa            linear   PRI 24-DEC-2022
DEFINITION  nucleoporin NUP42 isoform 2 [Homo sapiens].
ACCESSION   NP_031368
VERSION     NP_031368.1
DBSOURCE    REFSEQ: accession NM_007342.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 423)
  AUTHORS   Schwartz TU.
  TITLE     The Structure Inventory of the Nuclear Pore Complex
  JOURNAL   J Mol Biol 428 (10 Pt A), 1986-2000 (2016)
   PUBMED   27016207
  REMARK    Review article
REFERENCE   2  (residues 1 to 423)
  AUTHORS   Bui KH, von Appen A, DiGuilio AL, Ori A, Sparks L, Mackmull MT,
            Bock T, Hagen W, Andres-Pons A, Glavy JS and Beck M.
  TITLE     Integrated structural analysis of the human nuclear pore complex
            scaffold
  JOURNAL   Cell 155 (6), 1233-1243 (2013)
   PUBMED   24315095
REFERENCE   3  (residues 1 to 423)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   4  (residues 1 to 423)
  AUTHORS   Waldmann I, Spillner C and Kehlenbach RH.
  TITLE     The nucleoporin-like protein NLP1 (hCG1) promotes CRM1-dependent
            nuclear protein export
  JOURNAL   J Cell Sci 125 (Pt 1), 144-154 (2012)
   PUBMED   22250199
  REMARK    GeneRIF: NLP1 functions as an accessory factor in CRM1-dependent
            nuclear protein export
REFERENCE   5  (residues 1 to 423)
  AUTHORS   Joubert BR, Lange EM, Franceschini N, Mwapasa V, North KE and
            Meshnick SR.
  CONSRTM   NIAID Center for HIV/AIDS Vaccine Immunology
  TITLE     A whole genome association study of mother-to-child transmission of
            HIV in Malawi
  JOURNAL   Genome Med 2 (3), 17 (2010)
   PUBMED   20487506
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Erratum:[Genome Med. 2010;2(10):76]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 423)
  AUTHORS   Shiota C, Coffey J, Grimsby J, Grippo JF and Magnuson MA.
  TITLE     Nuclear import of hepatic glucokinase depends upon glucokinase
            regulatory protein, whereas export is due to a nuclear export
            signal sequence in glucokinase
  JOURNAL   J Biol Chem 274 (52), 37125-37130 (1999)
   PUBMED   10601273
REFERENCE   7  (residues 1 to 423)
  AUTHORS   Farjot G, Sergeant A and Mikaelian I.
  TITLE     A new nucleoporin-like protein interacts with both HIV-1 Rev
            nuclear export signal and CRM-1
  JOURNAL   J Biol Chem 274 (24), 17309-17317 (1999)
   PUBMED   10358091
REFERENCE   8  (residues 1 to 423)
  AUTHORS   Katahira J, Strasser K, Podtelejnikov A, Mann M, Jung JU and Hurt
            E.
  TITLE     The Mex67p-mediated nuclear mRNA export pathway is conserved from
            yeast to human
  JOURNAL   EMBO J 18 (9), 2593-2609 (1999)
   PUBMED   10228171
REFERENCE   9  (residues 1 to 423)
  AUTHORS   Fouchier RA, Meyer BE, Simon JH, Fischer U, Albright AV,
            Gonzalez-Scarano F and Malim MH.
  TITLE     Interaction of the human immunodeficiency virus type 1 Vpr protein
            with the nuclear pore complex
  JOURNAL   J Virol 72 (7), 6004-6013 (1998)
   PUBMED   9621063
REFERENCE   10 (residues 1 to 423)
  AUTHORS   Van Laer L, Van Camp G, van Zuijlen D, Green ED, Verstreken M,
            Schatteman I, Van de Heyning P, Balemans W, Coucke P, Greinwald JH,
            Smith RJ, Huizing E and Willems P.
  TITLE     Refined mapping of a gene for autosomal dominant progressive
            sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion
            of a candidate gene that is expressed in the cochlea
  JOURNAL   Eur J Hum Genet 5 (6), 397-405 (1997)
   PUBMED   9450185
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            U97198.1 and AI352214.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1174588.1,
                                           SRR3476690.183434.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000258742.10/ ENSP00000258742.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..423
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.3"
     Protein         1..423
                     /product="nucleoporin NUP42 isoform 2"
                     /note="nucleoporin-like protein 1; H_RG271G13.9;
                     nucleoporin-like protein 2; NUP42 homolog; nucleoporin
                     hCG1; nucleoporin like 2; nucleoporin NUP42"
                     /calculated_mol_wt=44741
     Region          4..22
                     /region_name="zf_CCCH_4"
                     /note="Zinc finger domain; pfam18345"
                     /db_xref="CDD:436426"
     Region          14..15
                     /region_name="FG 1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15504.1)"
     Region          24..85
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15504.1)"
     Region          94..170
                     /region_name="Interaction with HIV-1 Vpr"
                     /note="propagated from UniProtKB/Swiss-Prot (O15504.1)"
     Site            106
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O15504.1)"
     Region          215..>363
                     /region_name="Nucleoporin_FG2"
                     /note="Nucleoporin FG repeated region; pfam15967"
                     /db_xref="CDD:435043"
     Region          218..219
                     /region_name="FG 3"
                     /note="propagated from UniProtKB/Swiss-Prot (O15504.1)"
     Region          220..221
                     /region_name="FG 4"
                     /note="propagated from UniProtKB/Swiss-Prot (O15504.1)"
     Region          265..266
                     /region_name="FG 5"
                     /note="propagated from UniProtKB/Swiss-Prot (O15504.1)"
     Region          271..272
                     /region_name="FG 6"
                     /note="propagated from UniProtKB/Swiss-Prot (O15504.1)"
     Region          288..289
                     /region_name="FG 7"
                     /note="propagated from UniProtKB/Swiss-Prot (O15504.1)"
     Region          290..291
                     /region_name="FG 8"
                     /note="propagated from UniProtKB/Swiss-Prot (O15504.1)"
     Region          311..312
                     /region_name="FG 9"
                     /note="propagated from UniProtKB/Swiss-Prot (O15504.1)"
     Region          336..337
                     /region_name="FG 10"
                     /note="propagated from UniProtKB/Swiss-Prot (O15504.1)"
     Region          345..346
                     /region_name="FG 11"
                     /note="propagated from UniProtKB/Swiss-Prot (O15504.1)"
     Region          364..365
                     /region_name="FG 12"
                     /note="propagated from UniProtKB/Swiss-Prot (O15504.1)"
     Region          365..423
                     /region_name="Interaction with GLE1.
                     /evidence=ECO:0000269|PubMed:16000379"
                     /note="propagated from UniProtKB/Swiss-Prot (O15504.1)"
     CDS             1..423
                     /gene="NUP42"
                     /gene_synonym="CG1; hCG1; NLP-1; NLP1; NLP_1; NUPL2; UIP1"
                     /coded_by="NM_007342.3:39..1310"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS5379.1"
                     /db_xref="GeneID:11097"
                     /db_xref="HGNC:HGNC:17010"
                     /db_xref="MIM:619998"
ORIGIN      
        1 maicqfflqg rcrfgdrcwn ehpgargagg grqqpqqqps gnnrrgwntt sqrysnviqp
       61 ssfskstpwg gsrdqekpyf ssfdsgastn rkegfglsen pfaslspdeq kdekkllegi
      121 vkdmevwess gqwmfsvysp vkkkpnisgf tdispeelrl eyhnfltsnn lqsylnsvqr
      181 linqwrnrvn elkslnistk vallsdvkdg vnqaapafgf gssqaatfms pgfpvnnsss
      241 dnaqnfsfkt nsgfaaassg spagfgsspa fgaaastssg istsapafgf gkpevtsaas
      301 fsfkspaass fgspgfsglp aslatgpvra pvapafgggs svagfgspgs hshtafskps
      361 sdtfgnssis tslsasssii atdnvlftpr dkltveeleq fqskkftlgk iplkppplel
      421 lnv
//
LOCUS       NP_001339248             582 aa            linear   PRI 15-MAR-2023
DEFINITION  la-related protein 4 isoform q [Homo sapiens].
ACCESSION   NP_001339248
VERSION     NP_001339248.1
DBSOURCE    REFSEQ: accession NM_001352319.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 582)
  AUTHORS   Lu M, Gong B, Wang Y and Li J.
  TITLE     CircBNC2 affects epithelial ovarian cancer progression through the
            miR-223-3p/ LARP4 axis
  JOURNAL   Anticancer Drugs 34 (3), 384-394 (2023)
   PUBMED   36730544
  REMARK    GeneRIF: CircBNC2 affects epithelial ovarian cancer progression
            through the miR-223-3p/ LARP4 axis.
REFERENCE   2  (residues 1 to 582)
  AUTHORS   Mattijssen S, Iben JR, Li T, Coon SL and Maraia RJ.
  TITLE     Single molecule poly(A) tail-seq shows LARP4 opposes deadenylation
            throughout mRNA lifespan with most impact on short tails
  JOURNAL   Elife 9, e59186 (2020)
   PUBMED   32744499
  REMARK    GeneRIF: Single molecule poly(A) tail-seq shows LARP4 opposes
            deadenylation throughout mRNA lifespan with most impact on short
            tails.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 582)
  AUTHORS   Zhang X, Su X, Guo Z, Jiang X and Li X.
  TITLE     Circular RNA La-related RNA-binding protein 4 correlates with
            reduced tumor stage, as well as better prognosis, and promotes
            chemosensitivity to doxorubicin in breast cancer
  JOURNAL   J Clin Lab Anal 34 (7), e23272 (2020)
   PUBMED   32187743
  REMARK    GeneRIF: Circular RNA La-related RNA-binding protein 4 correlates
            with reduced tumor stage, as well as better prognosis, and promotes
            chemosensitivity to doxorubicin in breast cancer.
REFERENCE   4  (residues 1 to 582)
  AUTHORS   Weng XD, Yan T and Liu CL.
  TITLE     Circular RNA_LARP4 inhibits cell migration and invasion of prostate
            cancer by targeting FOXO3A
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (10), 5303-5309 (2020)
   PUBMED   32495863
  REMARK    GeneRIF: Circular RNA_LARP4 inhibits cell migration and invasion of
            prostate cancer by targeting FOXO3A.
REFERENCE   5  (residues 1 to 582)
  AUTHORS   Shi JQ, Wang B, Cao XQ, Wang YX, Cheng X, Jia CL, Wen T, Luo BJ and
            Liu ZD.
  TITLE     Circular RNA_LARP4 inhibits the progression of non-small-cell lung
            cancer by regulating the expression of SMAD7
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (4), 1863-1869 (2020)
   PUBMED   32141555
  REMARK    GeneRIF: Circular RNA_LARP4 inhibits the progression of
            non-small-cell lung cancer by regulating the expression of SMAD7.
REFERENCE   6  (residues 1 to 582)
  AUTHORS   Bai SW, Herrera-Abreu MT, Rohn JL, Racine V, Tajadura V,
            Suryavanshi N, Bechtel S, Wiemann S, Baum B and Ridley AJ.
  TITLE     Identification and characterization of a set of conserved and new
            regulators of cytoskeletal organization, cell morphology and
            migration
  JOURNAL   BMC Biol 9, 54 (2011)
   PUBMED   21834987
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 582)
  AUTHORS   Yang R, Gaidamakov SA, Xie J, Lee J, Martino L, Kozlov G, Crawford
            AK, Russo AN, Conte MR, Gehring K and Maraia RJ.
  TITLE     La-related protein 4 binds poly(A), interacts with the
            poly(A)-binding protein MLLE domain via a variant PAM2w motif, and
            can promote mRNA stability
  JOURNAL   Mol Cell Biol 31 (3), 542-556 (2011)
   PUBMED   21098120
  REMARK    GeneRIF: LARP4 activity is integrated with other PAM2 protein
            activities by PABP as part of mRNA homeostasis.
REFERENCE   8  (residues 1 to 582)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   9  (residues 1 to 582)
  AUTHORS   Puigdecanet E, Espinet B, Villa O, Florensa L, Besses C, Serrano S
            and Sole F.
  TITLE     Detection of abnormalities of PRV-1, TPO, and c-MPL genes detected
            by fluorescence in situ hybridization in essential thrombocythemia
  JOURNAL   Cancer Genet Cytogenet 167 (1), 39-42 (2006)
   PUBMED   16682284
  REMARK    GeneRIF: FISH study showed no cytogenetic abnormalities in any of
            the analyzed cases.
REFERENCE   10 (residues 1 to 582)
  AUTHORS   Kralovics R and Skoda RC.
  TITLE     Molecular pathogenesis of Philadelphia chromosome negative
            myeloproliferative disorders
  JOURNAL   Blood Rev 19 (1), 1-13 (2005)
   PUBMED   15572213
  REMARK    GeneRIF: The c-MPL protein altered expression provide an
            opportunity to diagnose and identify subpopulations of MPD
            patients.
            Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090058.21.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.159439.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144835, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..582
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     Protein         1..582
                     /product="la-related protein 4 isoform q"
                     /note="c-Mpl binding protein; La-related protein 4; La
                     ribonucleoprotein domain family member 4"
                     /calculated_mol_wt=64765
     Region          49..123
                     /region_name="LARP_4"
                     /note="La RNA-binding domain of La-related protein 4;
                     cd08035"
                     /db_xref="CDD:153404"
     Site            order(55,58..59,64,67..68,70,89..91)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:153404"
     Region          128..198
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     CDS             1..582
                     /gene="LARP4"
                     /gene_synonym="PP13296"
                     /coded_by="NM_001352319.2:386..2134"
                     /note="isoform q is encoded by transcript variant 23"
                     /db_xref="GeneID:113251"
                     /db_xref="HGNC:HGNC:24320"
                     /db_xref="MIM:618657"
ORIGIN      
        1 myssscettr nttgieestd gmilgpedls yqiydvsesn savstedlke clkkqlefcf
       61 srenlskdly lisqmdsdqf ipiwtvanme eikklttdpd lilevlrssp mvqvdekgek
      121 vrpshkrciv ilreipettp ieevkglfks encpkvisce fahnsnwyit fqsdtdaqqa
      181 fkylreevkt fqgkpimapf pngsfvngfn spgsyktnaa amnmgrpfqk nrvkpqfrss
      241 ggsehstegs vslgdgqlnr yssrnfpaer hnptvtghqe qtylqketst lqveqngdyg
      301 rgrrtlfrgr rrreddrisr phpstaeska ptpkfdllas nfpplpgsss rmpgelvlen
      361 rmsdvvkgvy kekdneelti scpvpadeqt ectsaqqlnm stsspcaael talsttqqek
      421 dliedssvqk dglnqttipv sppsttkpsr astaspcnnn inaatavalq eprklsyaev
      481 cqkppkepss vlvqplrelr snvvsptkne dngapensve kphekpeara skdysgfrgn
      541 iiprgaagki reqrrqfshr aipqgvtrrn gkeqyvpprs pk
//
LOCUS       XP_006724028             404 aa            linear   PRI 20-MAR-2023
DEFINITION  lipase member I isoform X1 [Homo sapiens].
ACCESSION   XP_006724028
VERSION     XP_006724028.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006723965.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..404
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..404
                     /product="lipase member I isoform X1"
                     /calculated_mol_wt=46369
     Region          70..338
                     /region_name="Pancreat_lipase_like"
                     /note="Pancreatic lipase-like enzymes. Lipases are
                     esterases that can hydrolyze long-chain acyl-triglycerides
                     into di- and monoglycerides, glycerol, and free fatty
                     acids at a water/lipid interface. A typical feature of
                     lipases is 'interfacial activation,' the...; cd00707"
                     /db_xref="CDD:238363"
     Site            186..190
                     /site_type="active"
                     /note="nucleophilic elbow [active]"
                     /db_xref="CDD:238363"
     Site            order(188,212,282)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:238363"
     Site            order(267..268,279..280)
                     /site_type="active"
                     /note="active site flap/lid"
                     /db_xref="CDD:238363"
     CDS             1..404
                     /gene="LIPI"
                     /gene_synonym="CT17; LPDL; mPA-PLA1 beta; PLA1C; PRED5"
                     /coded_by="XM_006723965.4:24..1238"
                     /db_xref="GeneID:149998"
                     /db_xref="HGNC:HGNC:18821"
                     /db_xref="MIM:609252"
ORIGIN      
        1 milpkrnlne lrnflfgels avfaflrfqm rvyiflclmc wvrsdnkrpc lefsqlsvkd
       61 sfrdlfipri etilmmytrn nlncaeplfe qnnslnvnfn tqkktvwlih gyrpvgsipl
      121 wlqnfvrill needmnvivv dwsrgattfi ynravkntrk vavslsvhik nllkhgasld
      181 nfhfigvslg ahisgfvgki fhgqlgritg ldpagprfsr kppysrldyt dakfvdvihs
      241 dsnglgiqep lghidfypng gnkqpgcpks ifsgiqfikc nhqravhlfm asletncnfi
      301 sfpcrsykdy ktslcvdcdc fkekscprlg yqaklfkgvl kermegrplr ttvfldtsgt
      361 ypfctyyfvl siivpdktmm dgsfsfklln qlgmieeprl yeer
//
LOCUS       XP_054188300            1133 aa            linear   PRI 20-MAR-2023
DEFINITION  voltage-dependent calcium channel subunit alpha-2/delta-4 isoform
            X1 [Homo sapiens].
ACCESSION   XP_054188300
VERSION     XP_054188300.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332325.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_018654718.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1133
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.33"
     Protein         1..1133
                     /product="voltage-dependent calcium channel subunit
                     alpha-2/delta-4 isoform X1"
                     /calculated_mol_wt=127458
     CDS             1..1133
                     /gene="CACNA2D4"
                     /gene_synonym="RCD4"
                     /coded_by="XM_054332325.1:180..3581"
                     /db_xref="GeneID:93589"
                     /db_xref="HGNC:HGNC:20202"
                     /db_xref="MIM:608171"
ORIGIN      
        1 mvcgcsallp lpnprptmpa tpnflanpss ssrwiplqpm pvawafvqkt sallwllllg
       61 tslspawgqa kipletvklw adtfggdlyn tvtkysgsll lqkkykdves slkieevdgl
      121 elvrkfsedm enmlrrkvea vqnlveaaee adlnhefnes lvfdyynsvl inerdekgnf
      181 velgaeflle snahfsnlpv ntsissvqlp tnvynkdpdi lngvymseal navfvenfqr
      241 dptltwqyfg satgffriyp gikwtpdeng vitfdcrnrg wyiqaatspk divilvdvsg
      301 smkglrmtia khtittildt lgendfinii ayndyvhyie pcfkgilvqa drdnrehfkl
      361 lveelmvkgv gvvdqalrea fqilkqvptf qeakqgslcn qaimlisdga vedyepvfek
      421 ynwpdckvrv ftyligrevs fadrmkwiac nnkgyytqis tladtqenvm eylhvlsrpm
      481 vinhdhdiiw teaymdskll ssqaqsltll ttvampvfsk knetrshgil lgvvgsdval
      541 relmklapry klgvhgyafl ntnngyilsh pdlrplyreg kklkpkpnyn svdlsevewe
      601 dqaeskrvlf ltndyfftdi sdtpfslgvv lsrghgeyil lgntsveegl hdllhpdlal
      661 agdwiycitd idpdhrklsq leamirfltr kdpdlecdee lvrevlfdav vtapmeaywt
      721 alalnmsees ehvvdmaflg tragllrssl fvgsekvsdr kfltpedeas vftldrfplw
      781 yrqasehpag sfvfnlrwae gpesagepmv vtastavavt vdkrtaiaaa agvqmklefl
      841 qrkfwaatrq cstvdgpctq scedsdldcf vidnngfili skrsretgrf lgevdgavlt
      901 qllsmgvfsq vtmydyqamc kpsshhhsaa qplvspisaf ltatrwllqe lvlfllewsv
      961 wgswydrgae aksvfhhshk hkkqdplqpc dteypvfvyq paireangiv ecgpcqkvfv
     1021 vqqipnsnll llvtdptcdc sifppvlqea tevkynasvk cdrmrsqklr rrpdschafh
     1081 pevrveadrg wagfsspnpl clglcpcrqe higmpmntpv pvllggnirv yal
//
LOCUS       XP_054194968             517 aa            linear   PRI 20-MAR-2023
DEFINITION  espin isoform X9 [Homo sapiens].
ACCESSION   XP_054194968
VERSION     XP_054194968.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338993.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..517
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..517
                     /product="espin isoform X9"
                     /calculated_mol_wt=54850
     CDS             1..517
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /coded_by="XM_054338993.1:181..1734"
                     /db_xref="GeneID:83715"
                     /db_xref="HGNC:HGNC:13281"
                     /db_xref="MIM:606351"
ORIGIN      
        1 maleqalqaa rqgeldvlrs lhaagllgps lrdpldalpv hhaaragklh clrflveeaa
       61 lpaaararng atpahdasat ghlaclqwll sqggcrvqdk dnsgatvlhl aarfghpevv
      121 nwllhhgggd ptaatdmgal pihyaaakgd fpslrllveh ypegvnaqtk ngatplylac
      181 qeghlevtqy lvqecgadph arahdgmtpl haaaqmghsp vivwlvsctd vslseqdkdg
      241 atamhfaasr ghtkvlswll lhggeisadl wggtplhdaa engeleccqi lvvngaeldv
      301 rdrdgytaad lsdfnghshc trylrtvenl svehrvlsrd psaeleakqp dsgmsspntt
      361 vsvqplnfdl ssptstlsny dscssshssi kgqhppcgls saraadiqsy mdmlnpelgl
      421 prgtigkptp pppppsfppp ppppgtqlpp pppgypapkp pvgpqaadiy mqtknklrhv
      481 etealkkepq aqsesvtqgr wlpggrcqwh gcgaell
//
LOCUS       XP_054201484            2042 aa            linear   PRI 20-MAR-2023
DEFINITION  dedicator of cytokinesis protein 3 isoform X7 [Homo sapiens].
ACCESSION   XP_054201484
VERSION     XP_054201484.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345509.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2042
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2042
                     /product="dedicator of cytokinesis protein 3 isoform X7"
                     /calculated_mol_wt=234143
     CDS             1..2042
                     /gene="DOCK3"
                     /gene_synonym="MOCA; NEDIDHA; PBP"
                     /coded_by="XM_054345509.1:338..6466"
                     /db_xref="GeneID:1795"
                     /db_xref="HGNC:HGNC:2989"
                     /db_xref="MIM:603123"
ORIGIN      
        1 mwtpteeeky gvvicsfrgs vpqglvleig etvqilekce gwyrgvstkk pnvkgifpan
       61 yihlkkaivs nrgqyetvvp ledsivtevt atlqewaslw kqlyvkhkvd lfyklrhvmn
      121 elidlrrqll sghltqdqvr evkrhitvrl dwgnehlgld lvprkdfevv dsdqisvsdl
      181 ykmhlssrqs vqqstsqvdt mrprhgetcr mpvphhffls lksftyntig edtdvffsly
      241 dmregkqise rflvrlnkng gprnpekier mcalftdlss kdmkrdlyiv ahvirigrml
      301 lndskkgpph lhyrrpygca vlsildvlqs ltevkeekdf vlkvytcnne sewsqiheni
      361 irkssakysa psashgliis lqllrgdmeq irrenpmifn rglaitrklg fpdvimpgdi
      421 rndlyltlek gdferggksv qknievtmyv lyadgeilkd cislgsgepn rssyhsfvly
      481 hsnsprwgei iklpipidrf rgshlrfefr hcstkdkgek klfgfafstl mrddgttlsd
      541 dihelyvykc denstfnnha lylglpccke dyngcpnips slifqrstke sffistqlss
      601 tkltqnvdll allkwkafpd rimdvlgrlr hvsgeeivkf lqdildtlfv ilddntekyg
      661 llvfqslvfi inllrdikyf hfrpvmdtyi qkhfagalay kelirclkwy mdcsaelirq
      721 dhiqeamral eylfkfivqs rilysratcg meeeqfrssi qelfqsirfv lsldsrnset
      781 llftqaalln sfptifdell qmftvqevae fvrgtlgsmp stvhigqsmd vvklqsiart
      841 vdsrlfsfse srrillpvvl hhihlhlrqq kellicsgil gsifsivkts sleadvmeev
      901 emmveslldv llqtlltims kshaqeagey vscllsllrq mcdthfqhll dnfqskdelk
      961 efllkifcvf rnlmkmsvfp rdwmvmrllt sniivttvqy lssalhknft etdfdfkvwn
     1021 syfslavlfi nqpslqleii tsakrkkild kygdmrvmma yelfsmwqnl gehkihfipg
     1081 migpflgvtl vpqpevrnim ipifhdmmdw eqrkngnfkq veaelidkld smvsegkgde
     1141 syrelfslll lekveqetwr etgisfvtsv trlmerlldy rdcmkgeete nkkigctvnl
     1201 mnfykseink eemyiryihk lcdmhlqaen yteaaftlll ycellqwedr plreflhyps
     1261 qtewqrkegl crkiihyfnk gkswefgipl crelacqyes lydyqslswi rkmeasyydn
     1321 imeqqrlepe ffrvgfygrk fpfflrnkey vcrghdyerl eafqqrmlse fpqavamqhp
     1381 nhpddailqc daqylqiyav tpipdyvdvl qmdrvpdrvk sfyrvnnvrk frydrpfhkg
     1441 pkdkenefks lwierttltl thslpgisrw feverrelve vsplenaiqv venknqelrs
     1501 lisqyqhkqv hgninllsmc lngvidaavn ggiaryqeaf fdkdyinkhp gdaekitqlk
     1561 elmqeqvhvl gvglavhekf vhpemrplhk klidqfqmmr aslyhefpgl dklspacsgt
     1621 stprgnvlas hspmspesik mthrhspmnl mgtgrhssss lsshasseag nmvmlgdgsm
     1681 gdapedlyhh mqlaypnpry qgsvtnvsvl sssqaspsss slssthsaps qmitsapssa
     1741 rdkyrharem mlllptyrdr pssamypaai lengqppnfq ralfqqvvga ckpcsdpnls
     1801 vaekavpaap sswsldsgaq eaqpflsahm grilappvpp rsllhghysl hfdafhhplg
     1861 dtppalpart lrksplhpip asptspqsgl dgsnstlsgs assgvsslse snfghsseap
     1921 prtdtmdsmp sqawnadedl eppylpvhys lsesavldsi kaqpcrshsa pgcvipqdpm
     1981 dppalppkpy hprlpalehd egvllreete rprglhrkap lppgsakeeq armawehgrg
     2041 eq
//
LOCUS       XP_054183699             844 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger X-chromosomal protein isoform X1 [Homo sapiens].
ACCESSION   XP_054183699
VERSION     XP_054183699.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327724.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..844
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..844
                     /product="zinc finger X-chromosomal protein isoform X1"
                     /calculated_mol_wt=94255
     CDS             1..844
                     /gene="ZFX"
                     /gene_synonym="ZNF926"
                     /coded_by="XM_054327724.1:334..2868"
                     /db_xref="GeneID:7543"
                     /db_xref="HGNC:HGNC:12869"
                     /db_xref="MIM:314980"
ORIGIN      
        1 mdedglelqq epnsffdatd rvsfchpgws tvapsgstat sasqaqvics asrvtgatga
       61 dgthmdgdqi vvevqetvfv sdvvdsditv hnfvpddpds vviqdviedv viedvqcpdi
      121 meeadvsetv iipeqvldsd vteevslahc tvpddvlasd itsasmsmpe hvltgdsihv
      181 sdvghvghvg hvehvvhdsv veaeivtdpl ttdvvseevl vadcaseavi dangipvdqq
      241 dddkgncedy lmislddagk iehdgssgmt mdteseidpc kvdgtcpevi kvyifkadpg
      301 eddlggtvdi vesependhg velldqnssi rvprekmvym tvndsqpede dlnvaeiade
      361 vymevivgee daaaaaaaaa vheqqmddne iktfmpiawa aaygnnsdgi enrngtasal
      421 lhidesaglg rlakqkpkkr rrpdsrqyqt aiiigpdghp ltvypcmicg kkfksrgflk
      481 rhmknhpehl akkkyrctdc dyttnkkisl hnhleshklt skaekaiecd ecgkhfshag
      541 alfthkmvhk ekgankmhkc kfceyetaeq gllnrhllav hsknfphicv ecgkgfrhps
      601 elkkhmriht gekpyqcqyc eyrsadssnl kthvktkhsk empfkcdicl ltfsdtkevq
      661 qhalihqesk thqclhcdhk ssnssdlkrh iisvhtkdyp hkcdmcdkgf hrpselkkhv
      721 aahkgkkmhq crhcdfkiad pfvlsrhils vhtkdlpfrc krcrkgfrqq selkkhmkth
      781 sgrkvyqcey ceysttdasg fkrhvisiht kdyphrceyc kkgfrrpsek nqhimrhhke
      841 vglp
//
LOCUS       NP_001191801             495 aa            linear   PRI 12-DEC-2020
DEFINITION  probable aminopeptidase NPEPL1 isoform 2 [Homo sapiens].
ACCESSION   NP_001191801
VERSION     NP_001191801.1
DBSOURCE    REFSEQ: accession NM_001204872.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 495)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   2  (residues 1 to 495)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP232534.1, AK307771.1, AL139349.37 and BC020507.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR and 5'
            coding region, and uses a distinct start codon, compared to variant
            1. The encoded isoform (2) has a distinct N-terminus and is shorter
            than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.211660.1,
                                           SRR1660807.193723.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..495
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.32"
     Protein         1..495
                     /product="probable aminopeptidase NPEPL1 isoform 2"
                     /note="probable aminopeptidase NPEPL1"
                     /calculated_mol_wt=52540
     Region          13..459
                     /region_name="Peptidase_M17"
                     /note="Cytosol aminopeptidase family, N-terminal and
                     catalytic domains. Family M17 contains zinc- and
                     manganese-dependent exopeptidases (EC 3.4.11.1), including
                     leucine aminopeptidase. They catalyze removal of amino
                     acids from the N-terminus of a protein and...; cd00433"
                     /db_xref="CDD:238247"
     Site            order(28..29,42,50,58,158,160..162,206,208,236,242,247,
                     250,253..254,286,288..291,293,295..299,305,307,311,
                     348..352,355,381..382,384,390,392..393,398,400,411..412,
                     414,445)
                     /site_type="other"
                     /note="interface (dimer of trimers) [polypeptide binding]"
                     /db_xref="CDD:238247"
     Site            order(232,237,244,255,314,316,318,343)
                     /site_type="active"
                     /note="Substrate-binding/catalytic site [active]"
                     /db_xref="CDD:238247"
     Site            order(232,237,255,314,316)
                     /site_type="other"
                     /note="Zn-binding sites [ion binding]"
                     /db_xref="CDD:238247"
     CDS             1..495
                     /gene="NPEPL1"
                     /gene_synonym="bA261P9.2"
                     /coded_by="NM_001204872.2:123..1610"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS56200.1"
                     /db_xref="GeneID:79716"
                     /db_xref="HGNC:HGNC:16244"
ORIGIN      
        1 melhggnrgg yqpkaleqsg cwlwqaalst lnpnptdscp lylnyatvaa lpcrvsrhns
       61 psaahfitrl vrtclppgah rcivmvceqp evfasacala rafplfthrs gasrrlekkt
      121 vtvefflvgq dngpvevstl qclanatdgv rlaarivdtp cnemntdtfl eeinkvgkel
      181 giiptiirde elktrgfggi ygvgkaalhp palavlshtp dgatqtiawv gkgivydtgg
      241 lsikgkttmp gmkrdcggaa avlgafraai kqgfkdnlha vfclaensvg pnatrpddih
      301 llysgktvei nntdaegrlv ladgvsyack dlgadiildm atltgaqgia tgkyhaavlt
      361 nsaeweaacv kagrkcgdlv hplvycpelh fseftsavad mknsvadrdn spsscaglfi
      421 ashigfdwpg vwvhldiaap vhageratgf gvalllalfg rasedpllnl vsplgcevdv
      481 eegdlgrdsk rrrlv
//
LOCUS       NP_001275639             184 aa            linear   PRI 21-APR-2022
DEFINITION  methyltransferase-like 26 isoform h [Homo sapiens].
ACCESSION   NP_001275639
VERSION     NP_001275639.1
DBSOURCE    REFSEQ: accession NM_001288710.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 184)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   2  (residues 1 to 184)
  AUTHORS   Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C,
            Kearney L, Buckle VJ, Doggett NA, Flint J and Higgs DR.
  TITLE     Sequence, structure and pathology of the fully annotated terminal 2
            Mb of the short arm of human chromosome 16
  JOURNAL   Hum Mol Genet 10 (4), 339-352 (2001)
   PUBMED   11157797
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB499720.1, BP273946.1 and BU539308.1.
            
            Transcript Variant: This variant (9) lacks an in-frame exon in the
            central coding region, compared to variant 1. The encoded isoform
            (h) is shorter, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BP273946.1, SRR18074968.4412234.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..184
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..184
                     /product="methyltransferase-like 26 isoform h"
                     /note="UPF0585 protein C16orf13"
                     /calculated_mol_wt=20297
     Region          4..183
                     /region_name="AdoMet_MTases"
                     /note="S-adenosylmethionine-dependent methyltransferases
                     (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes
                     that use S-adenosyl-L-methionine (SAM or AdoMet) as a
                     substrate for methyltransfer, creating the product
                     S-adenosyl-L-homocysteine (AdoHcy); cl17173"
                     /db_xref="CDD:450167"
     CDS             1..184
                     /gene="METTL26"
                     /gene_synonym="C16orf13; JFP2"
                     /coded_by="NM_001288710.2:16..570"
                     /note="isoform h is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS73798.1"
                     /db_xref="GeneID:84326"
                     /db_xref="HGNC:HGNC:14141"
ORIGIN      
        1 mlvaaaaern kdpilhvlrq yldpaqrgvr vlevasgsgq haahfarafp laewqpsdvd
       61 qrcldsiaat tqaqgltnvk aplhldvtwg wehwggilpq sldlllcinm ahvsplrcte
      121 pyaingkisp qsnvdfdlml rcrnpewglr dtalledlgk asglllermv dmpannkcli
      181 frkn
//
LOCUS       NP_001513               1108 aa            linear   PRI 17-DEC-2022
DEFINITION  retinal guanylyl cyclase 2 [Homo sapiens].
ACCESSION   NP_001513
VERSION     NP_001513.2
DBSOURCE    REFSEQ: accession NM_001522.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1108)
  AUTHORS   Peshenko IV, Olshevskaya EV and Dizhoor AM.
  TITLE     Retinal degeneration-3 protein attenuates photoreceptor
            degeneration in transgenic mice expressing dominant mutation of
            human retinal guanylyl cyclase
  JOURNAL   J Biol Chem 297 (4), 101201 (2021)
   PUBMED   34537244
  REMARK    GeneRIF: Retinal degeneration-3 protein attenuates photoreceptor
            degeneration in transgenic mice expressing dominant mutation of
            human retinal guanylyl cyclase.
REFERENCE   2  (residues 1 to 1108)
  AUTHORS   Blackford A, Parmigiani G, Kensler TW, Wolfgang C, Jones S, Zhang
            X, Parsons DW, Lin JC, Leary RJ, Eshleman JR, Goggins M, Jaffee EM,
            Iacobuzio-Donahue CA, Maitra A, Klein A, Cameron JL, Olino K,
            Schulick R, Winter J, Vogelstein B, Velculescu VE, Kinzler KW and
            Hruban RH.
  TITLE     Genetic mutations associated with cigarette smoking in pancreatic
            cancer
  JOURNAL   Cancer Res 69 (8), 3681-3688 (2009)
   PUBMED   19351817
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   3  (residues 1 to 1108)
  AUTHORS   Helten A, Saftel W and Koch KW.
  TITLE     Expression level and activity profile of membrane bound guanylate
            cyclase type 2 in rod outer segments
  JOURNAL   J Neurochem 103 (4), 1439-1446 (2007)
   PUBMED   17868328
  REMARK    GeneRIF: Mutants of GC-activating protein 2 modulated ROS-GC2 in a
            manner different from their action on ROS-GC1 indicating that the
            Ca2+ sensitivity of the Ca2+ sensor is controlled by the mode of
            target-sensor interaction.
REFERENCE   4  (residues 1 to 1108)
  AUTHORS   Wood LD, Calhoun ES, Silliman N, Ptak J, Szabo S, Powell SM,
            Riggins GJ, Wang TL, Yan H, Gazdar A, Kern SE, Pennacchio L,
            Kinzler KW, Vogelstein B and Velculescu VE.
  TITLE     Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers
  JOURNAL   Hum Mutat 27 (10), 1060-1061 (2006)
   PUBMED   16941478
  REMARK    GeneRIF: Results show GUCY2F gene was implicated in the
            pathogenesis of breast, lung, and pancreatic cancers and it may be
            useful targets for diagnostic and therapeutic intervention in
            selected patients.
REFERENCE   5  (residues 1 to 1108)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D,
            Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL,
            Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles
            ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman
            R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P,
            Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E,
            Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA,
            Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A,
            Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM,
            Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N,
            Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford
            EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J,
            Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E,
            Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke
            G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V,
            Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis
            C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H,
            Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ,
            Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL,
            Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert
            J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock
            R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD,
            Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M,
            Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob
            L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S,
            Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A,
            Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L,
            Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD,
            Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall
            J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G,
            Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N,
            Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R,
            Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM,
            Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S,
            Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C,
            Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC,
            Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor
            PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K,
            Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana
            D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A,
            Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G,
            Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL,
            Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D,
            Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ,
            Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M,
            Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T,
            Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   6  (residues 1 to 1108)
  AUTHORS   Laura RP and Hurley JB.
  TITLE     The kinase homology domain of retinal guanylyl cyclases 1 and 2
            specifies the affinity and cooperativity of interaction with
            guanylyl cyclase activating protein-2
  JOURNAL   Biochemistry 37 (32), 11264-11271 (1998)
   PUBMED   9698373
REFERENCE   7  (residues 1 to 1108)
  AUTHORS   Yang RB and Garbers DL.
  TITLE     Two eye guanylyl cyclases are expressed in the same photoreceptor
            cells and form homomers in preference to heteromers
  JOURNAL   J Biol Chem 272 (21), 13738-13742 (1997)
   PUBMED   9153227
REFERENCE   8  (residues 1 to 1108)
  AUTHORS   Yang RB, Fulle HJ and Garbers DL.
  TITLE     Chromosomal localization and genomic organization of genes encoding
            guanylyl cyclase receptors expressed in olfactory sensory neurons
            and retina
  JOURNAL   Genomics 31 (3), 367-372 (1996)
   PUBMED   8838319
REFERENCE   9  (residues 1 to 1108)
  AUTHORS   Lowe DG, Dizhoor AM, Liu K, Gu Q, Spencer M, Laura R, Lu L and
            Hurley JB.
  TITLE     Cloning and expression of a second photoreceptor-specific membrane
            retina guanylyl cyclase (RetGC), RetGC-2
  JOURNAL   Proc Natl Acad Sci U S A 92 (12), 5535-5539 (1995)
   PUBMED   7777544
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031387.4 and L37378.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 28, 2007 this sequence version replaced NP_001513.1.
            
            Summary: The protein encoded by this gene is a guanylyl cyclase
            found predominantly in photoreceptors in the retina. The encoded
            protein is thought to be involved in resynthesis of cGMP after
            light activation of the visual signal transduction cascade,
            allowing a return to the dark state. This protein is a single-pass
            type I membrane protein. Defects in this gene may be a cause of
            X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no transcript sequence was available
            to make the entire refseq consistent with the reference genome
            assembly. The extent of this transcript is supported by transcript
            alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: L37378.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2161674
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000218006.3/ ENSP00000218006.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1108
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.3-q23"
     Protein         1..1108
                     /product="retinal guanylyl cyclase 2"
                     /EC_number="4.6.1.2"
                     /note="guanylate cyclase 2D-like, membrane
                     (retina-specific); guanylate cyclase F; rod outer segment
                     membrane guanylate cyclase 2"
                     /calculated_mol_wt=124720
     Region          54..435
                     /region_name="PBP1_sensory_GC_DEF-like"
                     /note="ligand-binding domain of membrane guanylyl cyclases
                     (GC-D, GC-E, and GC-F) that are specifically expressed in
                     sensory tissues; cd06371"
                     /db_xref="CDD:380594"
     Site            order(102,127..128)
                     /site_type="other"
                     /note="putative Cl binding site [ion binding]"
                     /db_xref="CDD:380594"
     Site            order(111,115,133,137,142,199..200,203,206)
                     /site_type="other"
                     /note="putative dimer interface (closed form) [polypeptide
                     binding]"
                     /db_xref="CDD:380594"
     Site            order(133,137,199..200,203,206..207,218)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:380594"
     Site            order(236..237,261,268)
                     /site_type="other"
                     /note="putative dimer interface (open form) [polypeptide
                     binding]"
                     /db_xref="CDD:380594"
     Site            468..490
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P51841.2)"
     Region          545..815
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(546..549,552,554,583,588,607,623..626,670,674..675,
                     677,687..688)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     Region          <824..869
                     /region_name="HNOBA"
                     /note="Heme NO binding associated; pfam07701"
                     /db_xref="CDD:429606"
     Region          848..1040
                     /region_name="CYCc"
                     /note="Adenylyl- / guanylyl cyclase, catalytic domain;
                     smart00044"
                     /db_xref="CDD:214485"
     Site            order(887,889..894,929,931..933,936,1001..1003,1007..1008,
                     1011..1012,1050)
                     /site_type="active"
                     /note="nucleotidyl binding site [active]"
                     /db_xref="CDD:143636"
     Site            order(889,933)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:143636"
     Site            order(894,906,909..910,913,917,929..930,989,992,
                     1002..1005,1008,1050)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143636"
     CDS             1..1108
                     /gene="GUCY2F"
                     /gene_synonym="CYGF; GC-F; GUC2DL; GUC2F; RETGC-2;
                     ROS-GC2"
                     /coded_by="NM_001522.3:307..3633"
                     /db_xref="CCDS:CCDS14545.1"
                     /db_xref="GeneID:2986"
                     /db_xref="HGNC:HGNC:4691"
                     /db_xref="MIM:300041"
ORIGIN      
        1 mflglgrfsr lvlwfaafrk llghhglasa kflwclclls vmslpqqvwt lpykigvvgp
       61 wacdslfska lpevaarlai erinrdpsfd lsysfeyvil nedcqtsral ssfishhqma
      121 sgfigptnpg yceaasllgn swdkgifswa cvnyeldnki syptfsrtlp spirvlvtvm
      181 kyfqwahagv issdediwvh tanrvasalr shglpvgvvl ttgqdsqsmr kalqrihqad
      241 ririiimcmh saliggetqm hllecahdlk mtdgtyvfvp ydallyslpy khtpyrvlrn
      301 npklreayda vltitvesqe ktfyqaftea aargeipekl efdqvsplfg tiynsiyfia
      361 qamnnamken gqagaaslvq hsrnmqfhgf nqlmrtdsng ngiseyvild tnlkewelhs
      421 tytvdmemel lrfggtpihf pggrpprada kcwfaegkic hggidpafam mvcltllial
      481 lsingfayfi rrrinkiqli kgpnrilltl edvtfinphf gskrgsrasv sfqitsevqs
      541 grsprlsfss gsltpatyen sniaiyegdw vwlkkfslgd fgdlksiksr asdvfemmkd
      601 lrheninpll gffydsgmfa ivtefcsrgs lediltnqdv kldwmfkssl lldlikgmky
      661 lhhrefvhgr lksrncvvdg rfvlkvtdyg fndilemlrl seeessmeel lwtapellra
      721 prgsrlgsfa gdvysfaiim qevmvrgtpf cmmdlpaqei inrlkkpppv yrpvvppeha
      781 ppeclqlmkq cwaeaaeqrp tfdeifnqfk tfnkgkktni idsmlrmleq yssnledlir
      841 erteeleiek qkteklltqm lppsvaeslk kgctvepegf dlvtlyfsdi vgfttisams
      901 epievvdlln dlytlfdaii gshdvykvet igdaymvasg lpkrngsrha aeianmsldi
      961 lssvgtfkmr hmpevpvrir iglhsgpvva gvvgltmpry clfgdtvnta srmestglpy
     1021 rihvslstvt ilqnlsegye velrgrtelk gkgteetfwl igkkgfmkpl pvpppvdkdg
     1081 qvghglqpve iaafqrrkae rqlvrnkp
//
LOCUS       NP_001306016             647 aa            linear   PRI 18-DEC-2022
DEFINITION  AT-rich interactive domain-containing protein 5A isoform b [Homo
            sapiens].
ACCESSION   NP_001306016 XP_005263913
VERSION     NP_001306016.1
DBSOURCE    REFSEQ: accession NM_001319087.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 647)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 647)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 647)
  AUTHORS   Anwar T, Sen B, Aggarwal S, Nath R, Pathak N, Katoch A, Aiyaz M,
            Trehanpati N, Khosla S and Ramakrishna G.
  TITLE     Differentially regulated gene expression in quiescence versus
            senescence and identification of ARID5A as a quiescence associated
            marker
  JOURNAL   J Cell Physiol 233 (5), 3695-3712 (2018)
   PUBMED   29044508
  REMARK    GeneRIF: Overexpression of ARID5A resulted in more number of cells
            in G0/G1 phase of cell cycle
REFERENCE   4  (residues 1 to 647)
  AUTHORS   Saito Y, Kagami S, Sanayama Y, Ikeda K, Suto A, Kashiwakuma D,
            Furuta S, Iwamoto I, Nonaka K, Ohara O and Nakajima H.
  TITLE     AT-rich-interactive domain-containing protein 5A functions as a
            negative regulator of retinoic acid receptor-related orphan nuclear
            receptor gammat-induced Th17 cell differentiation
  JOURNAL   Arthritis Rheumatol 66 (5), 1185-1194 (2014)
   PUBMED   24782182
  REMARK    GeneRIF: AT-rich-interactive domain-containing protein 5A functions
            as a negative regulator of retinoic acid receptor-related orphan
            nuclear receptor gammat-induced Th17 cell differentiation.
REFERENCE   5  (residues 1 to 647)
  AUTHORS   Suter B, Fontaine JF, Yildirimman R, Rasko T, Schaefer MH, Rasche
            A, Porras P, Vazquez-Alvarez BM, Russ J, Rau K, Foulle R, Zenkner
            M, Saar K, Herwig R, Andrade-Navarro MA and Wanker EE.
  TITLE     Development and application of a DNA microarray-based yeast
            two-hybrid system
  JOURNAL   Nucleic Acids Res 41 (3), 1496-1507 (2013)
   PUBMED   23275563
REFERENCE   6  (residues 1 to 647)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   7  (residues 1 to 647)
  AUTHORS   Georgescu SP, Li JH, Lu Q, Karas RH, Brown M and Mendelsohn ME.
  TITLE     Modulator recognition factor 1, an AT-rich interaction domain
            family member, is a novel corepressor for estrogen receptor alpha
  JOURNAL   Mol Endocrinol 19 (10), 2491-2501 (2005)
   PUBMED   15941852
REFERENCE   8  (residues 1 to 647)
  AUTHORS   Patsialou A, Wilsker D and Moran E.
  TITLE     DNA-binding properties of ARID family proteins
  JOURNAL   Nucleic Acids Res 33 (1), 66-80 (2005)
   PUBMED   15640446
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 647)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   10 (residues 1 to 647)
  AUTHORS   Huang TH, Oka T, Asai T, Okada T, Merrills BW, Gertson PN, Whitson
            RH and Itakura K.
  TITLE     Repression by a differentiation-specific factor of the human
            cytomegalovirus enhancer
  JOURNAL   Nucleic Acids Res 24 (9), 1695-1701 (1996)
   PUBMED   8649988
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY002073.1, CR981009.1 and BC067301.1.
            On Jan 22, 2016 this sequence version replaced XP_005263913.1.
            
            Summary: Members of the ARID protein family, including ARID5A, have
            diverse functions but all appear to play important roles in
            development, tissue-specific gene expression, and regulation of
            cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by
            OMIM, Mar 2008].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction compared to variant 1. The resulting isoform (b)
            has the same N- and C-termini but is 1 aa shorter compared to
            isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138518.383256.1,
                                           SRR1163657.190694.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..647
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     Protein         1..647
                     /product="AT-rich interactive domain-containing protein 5A
                     isoform b"
                     /note="modulator recognition factor I; AT-rich interactive
                     domain-containing protein 5A; RFVG5814; modulator
                     recognition factor 1; ARID domain-containing protein 5A;
                     AT rich interactive domain 5A (MRF1-like)"
                     /calculated_mol_wt=69534
     Region          61..196
                     /region_name="ARID"
                     /note="ARID/BRIGHT DNA binding domain family; cl28902"
                     /db_xref="CDD:355778"
     Site            order(78..84,162,164..165,168,179,181..183,185)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:350627"
     Region          <131..439
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..647
                     /gene="ARID5A"
                     /gene_synonym="MRF-1; MRF1; RP11-363D14"
                     /coded_by="NM_001319087.2:76..2019"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="GeneID:10865"
                     /db_xref="HGNC:HGNC:17361"
                     /db_xref="MIM:611583"
ORIGIN      
        1 maapvkgnrk qstegdaldp paspkpagkq ngiqnpisle dspeaggere eeqereeeqa
       61 flvslykfmk erhtpiervp hlgfkqinlw kiykaveklg ayelsmalge rigwpllepq
      121 sscqtavlrv paraagaart pppggarrpr phevplqvtg rrlwknvyde lggspgstsa
      181 atctrrhyer lvlpyvrhlk geddkplpts kprkqykmak enrgddgate rpkkakeerr
      241 mdqmmpgktk adaadpaplp sqepprnste qqglasgssv sfvgasgcpe aykrllssfy
      301 ckgthgimsp lakkkllaqv skvealqcqe egcrhgaepq aspavhlpes pqspkglten
      361 srhrltpqeg lqapggslre eaqagpcpaa pifkgcfyth ptevlkpvsq hprdffsrlk
      421 dgvllgppgk eglsvkepql vwggdanrps afhkggsrkg ilypkpkacw vspmakvpae
      481 sptlpptfps spglgskrsl eeegaahsgk rlravspflk eadakkcgak pagsglvscl
      541 lgpalgpvpp eayrgtmlhc plnftgtpgp lkgqaalpfs plvipafpah flatagpspm
      601 aaglmhfppt sfdsalrhrl cpassawhap pvttyaaphf fhlntkl
//
LOCUS       NP_001362550            1086 aa            linear   PRI 18-DEC-2022
DEFINITION  ubiquitin-associated protein 2-like isoform j [Homo sapiens].
ACCESSION   NP_001362550 XP_016858469
VERSION     NP_001362550.1
DBSOURCE    REFSEQ: accession NM_001375621.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1086)
  AUTHORS   Herlihy AE, Boeing S, Weems JC, Walker J, Dirac-Svejstrup AB,
            Lehner MH, Conaway RC, Conaway JW and Svejstrup JQ.
  TITLE     UBAP2/UBAP2L regulate UV-induced ubiquitylation of RNA polymerase
            II and are the human orthologues of yeast Def1
  JOURNAL   DNA Repair (Amst) 115, 103343 (2022)
   PUBMED   35633597
  REMARK    GeneRIF: UBAP2/UBAP2L regulate UV-induced ubiquitylation of RNA
            polymerase II and are the human orthologues of yeast Def1.
REFERENCE   2  (residues 1 to 1086)
  AUTHORS   Lin S, Yan Z, Tang Q and Zhang S.
  TITLE     Ubiquitin-associated protein 2 like (UBAP2L) enhances growth and
            metastasis of gastric cancer cells
  JOURNAL   Bioengineered 12 (2), 10232-10245 (2021)
   PUBMED   34823423
  REMARK    GeneRIF: Ubiquitin-associated protein 2 like (UBAP2L) enhances
            growth and metastasis of gastric cancer cells.
REFERENCE   3  (residues 1 to 1086)
  AUTHORS   Kruse T, Benz C, Garvanska DH, Lindqvist R, Mihalic F, Coscia F,
            Inturi R, Sayadi A, Simonetti L, Nilsson E, Ali M, Kliche J,
            Moliner Morro A, Mund A, Andersson E, McInerney G, Mann M, Jemth P,
            Davey NE, Overby AK, Nilsson J and Ivarsson Y.
  TITLE     Large scale discovery of coronavirus-host factor protein
            interaction motifs reveals SARS-CoV-2 specific mechanisms and
            vulnerabilities
  JOURNAL   Nat Commun 12 (1), 6761 (2021)
   PUBMED   34799561
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1086)
  AUTHORS   Yang Z, Li G, Zhao Y, Zhang L, Yuan X, Meng L, Liu H, Han Y, Jia L
            and Zhang S.
  TITLE     Molecular Insights into the Recruiting Between UCP2 and DDX5/UBAP2L
            in the Metabolic Plasticity of Non-Small-Cell Lung Cancer
  JOURNAL   J Chem Inf Model 61 (8), 3978-3987 (2021)
   PUBMED   34308648
  REMARK    GeneRIF: Molecular Insights into the Recruiting Between UCP2 and
            DDX5/UBAP2L in the Metabolic Plasticity of Non-Small-Cell Lung
            Cancer.
REFERENCE   5  (residues 1 to 1086)
  AUTHORS   Luo EC, Nathanson JL, Tan FE, Schwartz JL, Schmok JC, Shankar A,
            Markmiller S, Yee BA, Sathe S, Pratt GA, Scaletta DB, Ha Y, Hill
            DE, Aigner S and Yeo GW.
  TITLE     Large-scale tethered function assays identify factors that regulate
            mRNA stability and translation
  JOURNAL   Nat Struct Mol Biol 27 (10), 989-1000 (2020)
   PUBMED   32807991
  REMARK    GeneRIF: Large-scale tethered function assays identify factors that
            regulate mRNA stability and translation.
REFERENCE   6  (residues 1 to 1086)
  AUTHORS   Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM,
            Polakiewicz RD and Comb MJ.
  TITLE     Immunoaffinity profiling of tyrosine phosphorylation in cancer
            cells
  JOURNAL   Nat Biotechnol 23 (1), 94-101 (2005)
   PUBMED   15592455
REFERENCE   7  (residues 1 to 1086)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   8  (residues 1 to 1086)
  AUTHORS   Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M and
            Peters EC.
  TITLE     Robust phosphoproteomic profiling of tyrosine phosphorylation sites
            from human T cells using immobilized metal affinity chromatography
            and tandem mass spectrometry
  JOURNAL   Anal Chem 76 (10), 2763-2772 (2004)
   PUBMED   15144186
REFERENCE   9  (residues 1 to 1086)
  AUTHORS   Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD and
            Sanderson CM.
  TITLE     Analysis of a high-throughput yeast two-hybrid system and its use
            to predict the function of intracellular proteins encoded within
            the human MHC class III region
  JOURNAL   Genomics 83 (1), 153-167 (2004)
   PUBMED   14667819
REFERENCE   10 (residues 1 to 1086)
  AUTHORS   Marenholz I, Zirra M, Fischer DF, Backendorf C, Ziegler A and
            Mischke D.
  TITLE     Identification of human epidermal differentiation complex
            (EDC)-encoded genes by subtractive hybridization of entire YACs to
            a gridded keratinocyte cDNA library
  JOURNAL   Genome Res 11 (3), 341-355 (2001)
   PUBMED   11230159
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590431.11.
            On Oct 30, 2019 this sequence version replaced XP_016858469.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.211526.1,
                                           SRR7346977.1826966.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1086
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..1086
                     /product="ubiquitin-associated protein 2-like isoform j"
                     /note="protein NICE-4; RNA polymerase II degradation
                     factor UBAP2L"
                     /calculated_mol_wt=114276
     Region          1..33
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Region          50..87
                     /region_name="UBA_UBP2_like"
                     /note="UBA domain found in ubiquitin-associated protein 2
                     (UBAP-2) like proteins; cd14277"
                     /db_xref="CDD:270463"
     Region          92..234
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            187
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            190
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            356
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            360
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Region          377..420
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            410
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            416
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:17924679, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            425
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            439
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Region          440..493
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            454
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            467
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            470
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            471
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            477
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Region          496..523
                     /region_name="DUF3697"
                     /note="Ubiquitin-associated protein 2; pfam12478"
                     /db_xref="CDD:372135"
     Region          530..656
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            604
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            605
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            608
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            609
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Region          669..794
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            852
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            859
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Region          865..901
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            962
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            969
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            969
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            976
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Region          1039..1086
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     CDS             1..1086
                     /gene="UBAP2L"
                     /gene_synonym="NICE-4; NICE4"
                     /coded_by="NM_001375621.1:127..3387"
                     /note="isoform j is encoded by transcript variant 14"
                     /db_xref="GeneID:9898"
                     /db_xref="HGNC:HGNC:29877"
                     /db_xref="MIM:616472"
ORIGIN      
        1 mmtsvgtnra rgnweqpqnq nqtqhkqrpq ataeqirlaq misdhndadf eekvkqlidi
       61 tgknqdecvi alhdcngdvn rainvllegn pdthswemvg kkkgvsgqkd ggqtesneeg
      121 kenrdrdrdy srrrggpprr grgasrgref rgqengldgt ksggpsgrgt ergrrgrgrg
      181 rggsgrrggr fsaqgmgtfn padyaepant ddnygnssgn twnntghfep ddgtsawrta
      241 teewgtedwn edlsetkift asnvssvplp aenvtitagq ridlavllgk tpstmendss
      301 nldpsqapsl aqplvfsnsk qtaisqpasg ntfshhsmvs mlgkgfgdvg eakggsttgs
      361 qfleqfktaq alaqlaaqhs qsgstttssw dmgsttqsps lvqydlknps dsavhspftk
      421 rqaftpsstm mevflqeksp avatstaapp ppssplpsks tsapqmspgs sdnqssspqp
      481 aqqklkqqkk kasltskipa lavempgsad isglnlqfga lqfgsepvls dyestpttsa
      541 sssqapssly tstasessst issnqsqesg yqsgpiqstt ytsqnnaqgp lyeqrstqtr
      601 rypssisssp qkdltqakng fssvqatqlq ttqsvegatg savksdspst ssipplnetv
      661 saaslltttn qhssslggls hseeipnttt tqhsstlstq qntlssstss grtststllh
      721 tsveseanlh sssstfstts stvsapppvv svssslnsgs slglslgsns tvtastrssv
      781 attsgkappn lppgvppllp npyimapgll hayppqvygy ddlqmlqtrf pldyysipfp
      841 tpttpltgrd gslasnpysg dltkfgrgda sspapattla qpqqnqtqth httqqtflnp
      901 alppgysyts lpyytgvpgl pstfqygpav fpvaptsskq hgvnvsvnas atpfqqpsgy
      961 gshgyntgvs vtssntgvpd isgsvysktq sfekqgfhsg tpaasfnlps algsggpinp
     1021 ataaayppap fmhiltphqq phsqilhhhl qqdgqtgsgq rsqtssipqk pqtnksayns
     1081 yswgan
//
LOCUS       NP_001336405             535 aa            linear   PRI 23-DEC-2022
DEFINITION  uncharacterized protein C8orf34 isoform 3 [Homo sapiens].
ACCESSION   NP_001336405
VERSION     NP_001336405.1
DBSOURCE    REFSEQ: accession NM_001349476.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 535)
  AUTHORS   Stransky N, Cerami E, Schalm S, Kim JL and Lengauer C.
  TITLE     The landscape of kinase fusions in cancer
  JOURNAL   Nat Commun 5, 4846 (2014)
   PUBMED   25204415
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 535)
  AUTHORS   Han JY, Shin ES, Lee YS, Ghang HY, Kim SY, Hwang JA, Kim JY and Lee
            JS.
  TITLE     A genome-wide association study for irinotecan-related severe
            toxicities in patients with advanced non-small-cell lung cancer
  JOURNAL   Pharmacogenomics J 13 (5), 417-422 (2013)
   PUBMED   22664479
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067871.6, AC090096.5,
            AC011884.8, AC083967.5 and BM684412.1.
            
            Summary: This gene encodes a protein that is related to the cyclic
            AMP dependent protein kinase regulators. Naturally occurring
            mutations in this gene are associated with an increased risk for
            severe toxicities, such as diarrhea and neutropenia, in patients
            undergoing chemotherapeutic treatment. [provided by RefSeq, Mar
            2017].
            
            Transcript Variant: This variant (3) uses an alternate splice site
            in the 3' coding region, compared to variant 1. The encoded isoform
            (3) is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.126655.1,
                                           SRR1803617.222320.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144333, SAMEA2155984
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..535
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.2"
     Protein         1..535
                     /product="uncharacterized protein C8orf34 isoform 3"
                     /note="vestibule-1 protein; protein VEST-1;
                     uncharacterized protein C8orf34"
                     /calculated_mol_wt=58972
     Region          20..71
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49A92.3)"
     Region          92..496
                     /region_name="DUF5586"
                     /note="Family of unknown function (DUF5586); pfam17824"
                     /db_xref="CDD:436070"
     Region          151..211
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49A92.3)"
     Region          288..331
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49A92.3)"
     Region          455..479
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49A92.3)"
     CDS             1..535
                     /gene="C8orf34"
                     /gene_synonym="VEST-1; VEST1"
                     /coded_by="NM_001349476.1:641..2248"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:116328"
                     /db_xref="HGNC:HGNC:30905"
ORIGIN      
        1 mssplasels elaalrpgfr lsapharvap raathargrg rashagqprl rsscpgpspg
       61 krrvvpsgga qprvlpalss rshlfpmash pqtriqayle knkigplfee lmtklitetp
      121 dqpipflidh lqskqgnrgq lqrtlsgsaa lwaesekses kgtrrdfrsy dkpwqlnakk
      181 pkksksdlav snisppspds kslprsvehp kwnwrtkpqs rdfdelnhil qeskklgkal
      241 enlsrsiais deldketvtf nssllrprvi gewigreend adplaaemlq ppiprskndq
      301 wesedsgssp agslkmepkn kglkqqqqqh kkllaamlsq dsfesihspt psvteedidn
      361 eddamelled lndlrmegvt tlvpsgskfn qgrptypaep qakvtlnics rlqgdnleer
      421 teeslpilhs pdekipdsfd slpgteealm eegdefekas kltgpgeass gvghslknym
      481 eedeslkqlq vvhqpwilps dtesegveae qekrsadlll cvpcsscptl vysgl
//
LOCUS       NP_005504                439 aa            linear   PRI 24-DEC-2022
DEFINITION  general transcription factor IIE subunit 1 [Homo sapiens].
ACCESSION   NP_005504
VERSION     NP_005504.2
DBSOURCE    REFSEQ: accession NM_005513.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 439)
  AUTHORS   Phan T, Maity P, Ludwig C, Streit L, Michaelis J, Tsesmelis M,
            Scharffetter-Kochanek K and Iben S.
  TITLE     Nucleolar TFIIE plays a role in ribosomal biogenesis and
            performance
  JOURNAL   Nucleic Acids Res 49 (19), 11197-11210 (2021)
   PUBMED   34581812
  REMARK    GeneRIF: Nucleolar TFIIE plays a role in ribosomal biogenesis and
            performance.
REFERENCE   2  (residues 1 to 439)
  AUTHORS   Su Mo J and Cheon Chae S.
  TITLE     MicroRNA 452 regulates GTF2E1 expression in colorectal cancer cells
  JOURNAL   J Genet 100 (2021)
   PUBMED   34553694
  REMARK    GeneRIF: MicroRNA 452 regulates GTF2E1 expression in colorectal
            cancer cells.
REFERENCE   3  (residues 1 to 439)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 439)
  AUTHORS   Ayoubi LE, Dumay-Odelot H, Chernev A, Boissier F,
            Minvielle-Sebastia L, Urlaub H, Fribourg S and Teichmann M.
  TITLE     The hRPC62 subunit of human RNA polymerase III displays helicase
            activity
  JOURNAL   Nucleic Acids Res 47 (19), 10313-10326 (2019)
   PUBMED   31529052
  REMARK    GeneRIF: the eWH domain of hTFIIEalpha can replace the first eWH
            (eWH1) domain of hRPC62 in ATPase and DNA unwinding assays. Our
            results identify intrinsic enzymatic activities in hRPC62 and
            hTFIIEalpha.
REFERENCE   5  (residues 1 to 439)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (residues 1 to 439)
  AUTHORS   Ohkuma Y, Hashimoto S, Roeder RG and Horikoshi M.
  TITLE     Identification of two large subdomains in TFIIE-alpha on the basis
            of homology between Xenopus and human sequences
  JOURNAL   Nucleic Acids Res 20 (21), 5838 (1992)
   PUBMED   1454543
REFERENCE   7  (residues 1 to 439)
  AUTHORS   Ohkuma Y, Sumimoto H, Hoffmann A, Shimasaki S, Horikoshi M and
            Roeder RG.
  TITLE     Structural motifs and potential sigma homologies in the large
            subunit of human general transcription factor TFIIE
  JOURNAL   Nature 354 (6352), 398-401 (1991)
   PUBMED   1956403
REFERENCE   8  (residues 1 to 439)
  AUTHORS   Peterson MG, Inostroza J, Maxon ME, Flores O, Admon A, Reinberg D
            and Tjian R.
  TITLE     Structure and functional properties of human general transcription
            factor IIE
  JOURNAL   Nature 354 (6352), 369-373 (1991)
   PUBMED   1956398
REFERENCE   9  (residues 1 to 439)
  AUTHORS   Jacob GA, Luse SW and Luse DS.
  TITLE     Abortive initiation is increased only for the weakest members of a
            set of down mutants of the adenovirus 2 major late promoter
  JOURNAL   J Biol Chem 266 (33), 22537-22544 (1991)
   PUBMED   1939271
REFERENCE   10 (residues 1 to 439)
  AUTHORS   Inostroza J, Flores O and Reinberg D.
  TITLE     Factors involved in specific transcription by mammalian RNA
            polymerase II. Purification and functional analysis of general
            transcription factor IIE
  JOURNAL   J Biol Chem 266 (14), 9304-9308 (1991)
   PUBMED   2026628
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA498425.1, S67859.1 and AC117472.3.
            On Apr 11, 2007 this sequence version replaced NP_005504.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.1917.1,
                                           SRR1803611.158154.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000283875.6/ ENSP00000283875.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..439
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33"
     Protein         1..439
                     /product="general transcription factor IIE subunit 1"
                     /note="TFIIE-alpha; general transcription factor IIE 56
                     kDa subunit; transcription initiation factor IIE subunit
                     alpha; general transcription factor IIE, polypeptide 1,
                     alpha 56kDa; TFIIE alpha subunit"
                     /calculated_mol_wt=49321
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.3,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (P29083.2)"
     Region          28..175
                     /region_name="TFIIE"
                     /note="Transcription initiation factor IIE; smart00531"
                     /db_xref="CDD:128804"
     Site            67
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P29083.2)"
     Site            268
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P29083.2)"
     Region          332..393
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P29083.2)"
     Region          <394..439
                     /region_name="TFIIE-A_C"
                     /note="C-terminal general transcription factor TFIIE
                     alpha; pfam11521"
                     /db_xref="CDD:431916"
     CDS             1..439
                     /gene="GTF2E1"
                     /gene_synonym="FE; TF2E1; TFIIE-A"
                     /coded_by="NM_005513.3:82..1401"
                     /db_xref="CCDS:CCDS3002.1"
                     /db_xref="GeneID:2960"
                     /db_xref="HGNC:HGNC:4650"
                     /db_xref="MIM:189962"
ORIGIN      
        1 madpdvltev paalkrlaky virgfygieh alaldilirn scvkeedmle llkfdrkqlr
       61 svlnnlkgdk fikcrmrvet aadgkttrhn yyfinyrtlv nvvkykldhm rrrietderd
      121 stnrasfkcp vcsstftdle anqlfdpmtg tfrctfchte veedesampk kdartllarf
      181 neqiepiyal lretedvnla yeilepepte ipalkqskdh aattagaasl agghhreawa
      241 tkgpsyedly tqnvvinmdd qedlhrasle gksakerpiw lrestvqgay gsedmkeggi
      301 dmdafqeree ghagpddnee vmrallihek ktssamagsv gaaapvtaan gsdsesetse
      361 sdddspprpa avavhkreed eeeddefeev addpivmvag rpfsysevsq rpelvaqmtp
      421 eekeayiamg qrmfedlfe
//
LOCUS       NP_001036065             821 aa            linear   PRI 24-DEC-2022
DEFINITION  mitogen-activated protein kinase kinase kinase kinase 1 isoform 1
            [Homo sapiens].
ACCESSION   NP_001036065
VERSION     NP_001036065.1
DBSOURCE    REFSEQ: accession NM_001042600.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 821)
  AUTHORS   Bader A, Winkelmann M, Forne I, Walzog B and Maier-Begandt D.
  TITLE     Decoding the signaling profile of hematopoietic progenitor kinase 1
            (HPK1) in innate immunity: A proteomic approach
  JOURNAL   Eur J Immunol 52 (5), 760-769 (2022)
   PUBMED   35099066
  REMARK    GeneRIF: Decoding the signaling profile of hematopoietic progenitor
            kinase 1 (HPK1) in innate immunity: A proteomic approach.
REFERENCE   2  (residues 1 to 821)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (residues 1 to 821)
  AUTHORS   He TS, Huang J, Chen T, Zhang Z, Cai K, Yu J and Xu LG.
  TITLE     The Kinase MAP4K1 Inhibits Cytosolic RNA-Induced Antiviral
            Signaling by Promoting Proteasomal Degradation of TBK1/IKKepsilon
  JOURNAL   Microbiol Spectr 9 (3), e0145821 (2021)
   PUBMED   34908452
  REMARK    GeneRIF: The Kinase MAP4K1 Inhibits Cytosolic RNA-Induced Antiviral
            Signaling by Promoting Proteasomal Degradation of TBK1/IKKepsilon.
REFERENCE   4  (residues 1 to 821)
  AUTHORS   Ling Q, Li F, Zhang X, Mao S, Lin X, Pan J, Ye W, Wei W, Qian Y, Hu
            C, Huang X, Wang J, Wang H, Huang J, Wang Y and Jin J.
  TITLE     MAP4K1 functions as a tumor promotor and drug mediator for AML via
            modulation of DNA damage/repair system and MAPK pathway
  JOURNAL   EBioMedicine 69, 103441 (2021)
   PUBMED   34166980
  REMARK    GeneRIF: MAP4K1 functions as a tumor promotor and drug mediator for
            AML via modulation of DNA damage/repair system and MAPK pathway.
REFERENCE   5  (residues 1 to 821)
  AUTHORS   Lau WL, Pearce B, Malakian H, Rodrigo I, Xie D, Gao M, Marsilio F,
            Chang C, Ruzanov M, Muckelbauer JK, Newitt JA, Lipovsek D and
            Sheriff S.
  TITLE     Using yeast surface display to engineer a soluble and
            crystallizable construct of hematopoietic progenitor kinase 1
            (HPK1)
  JOURNAL   Acta Crystallogr F Struct Biol Commun 77 (Pt 1), 22-28 (2021)
   PUBMED   33439152
  REMARK    GeneRIF: Using yeast surface display to engineer a soluble and
            crystallizable construct of hematopoietic progenitor kinase 1
            (HPK1).
REFERENCE   6  (residues 1 to 821)
  AUTHORS   Zhou G, Lee SC, Yao Z and Tan TH.
  TITLE     Hematopoietic progenitor kinase 1 is a component of transforming
            growth factor beta-induced c-Jun N-terminal kinase signaling
            cascade
  JOURNAL   J Biol Chem 274 (19), 13133-13138 (1999)
   PUBMED   10224067
REFERENCE   7  (residues 1 to 821)
  AUTHORS   Ling P, Yao Z, Meyer CF, Wang XS, Oehrl W, Feller SM and Tan TH.
  TITLE     Interaction of hematopoietic progenitor kinase 1 with adapter
            proteins Crk and CrkL leads to synergistic activation of c-Jun
            N-terminal kinase
  JOURNAL   Mol Cell Biol 19 (2), 1359-1368 (1999)
   PUBMED   9891069
REFERENCE   8  (residues 1 to 821)
  AUTHORS   Oehrl W, Kardinal C, Ruf S, Adermann K, Groffen J, Feng GS, Blenis
            J, Tan TH and Feller SM.
  TITLE     The germinal center kinase (GCK)-related protein kinases HPK1 and
            KHS are candidates for highly selective signal transducers of Crk
            family adapter proteins
  JOURNAL   Oncogene 17 (15), 1893-1901 (1998)
   PUBMED   9788432
REFERENCE   9  (residues 1 to 821)
  AUTHORS   Anafi M, Kiefer F, Gish GD, Mbamalu G, Iscove NN and Pawson T.
  TITLE     SH2/SH3 adaptor proteins can link tyrosine kinases to a
            Ste20-related protein kinase, HPK1
  JOURNAL   J Biol Chem 272 (44), 27804-27811 (1997)
   PUBMED   9346925
REFERENCE   10 (residues 1 to 821)
  AUTHORS   Hu MC, Qiu WR, Wang X, Meyer CF and Tan TH.
  TITLE     Human HPK1, a novel human hematopoietic progenitor kinase that
            activates the JNK/SAPK kinase cascade
  JOURNAL   Genes Dev 10 (18), 2251-2264 (1996)
   PUBMED   8824585
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY074876.1 and U66464.1.
            
            Transcript Variant: This variant (1) lacks an exon in the 3' coding
            region, which results in a frameshift, compared to variant 2. The
            encoded isoform (1) has a shorter and distinct C-terminus, compared
            to isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.6850.1,
                                           SRR1163657.489551.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396857.7/ ENSP00000380066.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..821
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     Protein         1..821
                     /product="mitogen-activated protein kinase kinase kinase
                     kinase 1 isoform 1"
                     /EC_number="2.7.11.1"
                     /note="hematopoietic progenitor kinase 1; MEKKK 1; MEK
                     kinase kinase 1; MAPK/ERK kinase kinase kinase 1"
                     /calculated_mol_wt=90295
     Region          16..274
                     /region_name="STKc_MAP4K3_like"
                     /note="Catalytic domain of Mitogen-activated protein
                     kinase kinase kinase kinase (MAP4K) 3-like
                     Serine/Threonine Kinases; cd06613"
                     /db_xref="CDD:270788"
     Site            order(23..27,31,44,46,75,91..94,97..98,101,137,139..142,
                     144,154..155,158,172..175,177,207,216)
                     /site_type="active"
                     /db_xref="CDD:270788"
     Site            order(23..27,31,44,46,75,91..94,97..98,101,141..142,144,
                     155)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270788"
     Site            order(26..27,137,139..141,158,172..175,177,207,216)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270788"
     Site            order(154..165,168..177)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270788"
     Site            165
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:24362026; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1)"
     Site            171
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:24362026; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1)"
     Site            175
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:24362026; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1)"
     Region          296..478
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92918.1)"
     Site            355
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:24362026; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1)"
     Site            374
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70218; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1)"
     Site            376
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70218; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1)"
     Site            405
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1)"
     Site            407
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1)"
     Site            413
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1)"
     Site            421
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1)"
     Region          500..807
                     /region_name="CNH"
                     /note="Domain found in NIK1-like kinases, mouse citron and
                     yeast ROM1, ROM2; smart00036"
                     /db_xref="CDD:214481"
     Site            586
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1)"
     CDS             1..821
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /coded_by="NM_001042600.3:59..2524"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS42564.1"
                     /db_xref="GeneID:11184"
                     /db_xref="HGNC:HGNC:6863"
                     /db_xref="MIM:601983"
ORIGIN      
        1 mdvvdpdifn rdprdhydll qrlgggtyge vfkardkvsg dlvalkmvkm epdddvstlq
       61 keililktcr hanivayhgs ylwlqklwic mefcgagslq diyqvtgsls elqisyvcre
      121 vlqglaylhs qkkihrdikg anilindage vrladfgisa qigatlarrl sfigtpywma
      181 pevaavalkg gynelcdiws lgitaielae lqpplfdvhp lrvlflmtks gyqpprlkek
      241 gkwsaafhnf ikvtltkspk krpsatkmls hqlvsqpgln rglildlldk lknpgkgpsi
      301 gdiedeepel ppaiprrirs thrssslgip dadccrrhme frklrgmetr ppantarlqp
      361 prdlrssspr kqlsessddd yddvdiptpa edtppplppk pkfrspsdeg pgsmgddgql
      421 spgvlvrcas gpppnsprpg pppstssphl tahsepslwn ppsreldkpp llppkkekmk
      481 rkgcallvkl fngcplrihs taawthpstk dqhlllgaee gifilnrndq eatlemlfps
      541 rttwvysinn vlmslsgktp hlyshsilgl lerketragn piahisphrl larknmvstk
      601 iqdtkgcrac cvaegassgg pflcgalets vvllqwyqpm nkfllvrqvl fplptplsvf
      661 alltgpgsel pavcigvspg rpgksvlfht vrfgalscwl gemstehrgp vqvtqveedm
      721 vmvlmdgsvk lvtpegspvr glrtpeipmt eaveavamvg gqlqafwkhg vqvwalgsdq
      781 llqelrdptl tfrllgsprp vvvetrpvdd ptapsnlyiq e
//
LOCUS       NP_001308280             458 aa            linear   PRI 25-DEC-2022
DEFINITION  zinc finger protein 529 isoform c [Homo sapiens].
ACCESSION   NP_001308280 XP_011525470
VERSION     NP_001308280.1
DBSOURCE    REFSEQ: accession NM_001321351.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 458)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX503547.1, AK025110.1 and AC092295.2.
            On Mar 23, 2016 this sequence version replaced XP_011525470.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK025110.1, SRR1803611.192623.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..458
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     Protein         1..458
                     /product="zinc finger protein 529 isoform c"
                     /calculated_mol_wt=53563
     Region          96..116
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          151..171
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          179..199
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          189..>256
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          207..227
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          231..>303
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          235..255
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          263..283
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(268,270,272,274..275,278..279,282,296,298,302..303,
                     306..307,310,324,326,328,330..331,334..335,338)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          <287..439
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          291..311
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          319..339
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          347..367
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(352,354,356,358..359,362..363,366,380,382,386..387,
                     390..391,394,408,410,412,414..415,418..419,422)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          375..395
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          403..423
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..458
                     /gene="ZNF529"
                     /coded_by="NM_001321351.2:616..1992"
                     /note="isoform c is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS82335.1"
                     /db_xref="GeneID:57711"
                     /db_xref="HGNC:HGNC:29328"
ORIGIN      
        1 messklcgle gsifrndwqs kskidlqgpe vgyfsqmkii senvpsykth esltlprrth
       61 dsekpyeyke yekvfscdle fdeyqkihtg gknyecnqcw ktfgidnssm lqlnihtgvk
      121 pckymeygnt csfykdfnvy qkihnekfyk ckeyrrtfer vgkvtplqrv hdgekhfecs
      181 fcgksfrvha qltrhqkiht dektykcmec gkdfrfhsql tehqrihtge kpykcmhcek
      241 vfrissqlie hqrihtgekp yackecgkaf gvcrelarhq rihtgkkpye ckacgkvfrn
      301 sssltrhqri htgekpykck ecekafgvgs eltrherihs gqkpyeckec gkffrltsal
      361 iqhqrihsge kpyeckvcgk afrhssalte hqrihtgekp yeckacgkaf rhsssftkhq
      421 rihtddkpye ckecgnsfsv vghltcqpki ytgeksfd
//
LOCUS       NP_653235                146 aa            linear   PRI 25-DEC-2022
DEFINITION  lysozyme-like protein 4 precursor [Homo sapiens].
ACCESSION   NP_653235
VERSION     NP_653235.1
DBSOURCE    REFSEQ: accession NM_144634.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 146)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   2  (residues 1 to 146)
  AUTHORS   McClay JL, Adkins DE, Aberg K, Bukszar J, Khachane AN, Keefe RS,
            Perkins DO, McEvoy JP, Stroup TS, Vann RE, Beardsley PM, Lieberman
            JA, Sullivan PF and van den Oord EJ.
  TITLE     Genome-wide pharmacogenomic study of neurocognition as an indicator
            of antipsychotic treatment response in schizophrenia
  JOURNAL   Neuropsychopharmacology 36 (3), 616-626 (2011)
   PUBMED   21107309
REFERENCE   3  (residues 1 to 146)
  AUTHORS   Zhang K, Gao R, Zhang H, Cai X, Shen C, Wu C, Zhao S and Yu L.
  TITLE     Molecular cloning and characterization of three novel lysozyme-like
            genes, predominantly expressed in the male reproductive system of
            humans, belonging to the c-type lysozyme/alpha-lactalbumin family
  JOURNAL   Biol Reprod 73 (5), 1064-1071 (2005)
   PUBMED   16014814
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092048.2, HY037577.1 and BC016747.2.
            
            Summary: Lysozymes (see LYZ; MIM 153450), especially C-type
            lysozymes, are well-recognized bacteriolytic factors widely
            distributed in the animal kingdom and play a mainly protective role
            in host defense. LYZL4 is a member of a family of lysozyme-like
            genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr
            2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC016747.2, SRR5189661.124115.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2151119
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000287748.8/ ENSP00000287748.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..146
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.1"
     Protein         1..146
                     /product="lysozyme-like protein 4 precursor"
                     /note="lysozyme-like protein 4; lysozyme-4; lysozyme A"
                     /calculated_mol_wt=14547
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1904
     Region          21..144
                     /region_name="LYZ_C"
                     /note="C-type lysozyme; cd16897"
                     /db_xref="CDD:340383"
     Site            order(65,72,77..79,82..83,117,119,123..125)
                     /site_type="other"
                     /note="sugar binding site [chemical binding]"
                     /db_xref="CDD:340383"
     Site            order(65,72,77..79,82..83,117,119,123..125)
                     /site_type="other"
                     /note="sugar binding site [chemical binding]"
                     /db_xref="CDD:340383"
     CDS             1..146
                     /gene="LYZL4"
                     /gene_synonym="LYC4; LYZA"
                     /coded_by="NM_144634.4:287..727"
                     /db_xref="CCDS:CCDS2697.1"
                     /db_xref="GeneID:131375"
                     /db_xref="HGNC:HGNC:28387"
                     /db_xref="MIM:612750"
ORIGIN      
        1 mkasvvlsll gylvvpsgay ilgrctvakk lhdggldyfe gyslenwvcl ayfeskfnpm
       61 aiyentregy tgfglfqmrg sdwcgdhgrn rchmscsall npnlektikc aktivkgkeg
      121 mgawptwsry cqysdtlarw ldgckl
//
LOCUS       NP_004267                167 aa            linear   PRI 26-DEC-2022
DEFINITION  calcium-binding protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_004267
VERSION     NP_004267.2
DBSOURCE    REFSEQ: accession NM_004276.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 167)
  AUTHORS   Di Jeso B, Morishita Y, Treglia AS, Lofrumento DD, Nicolardi G,
            Beguinot F, Kellogg AP and Arvan P.
  TITLE     Transient covalent interactions of newly synthesized thyroglobulin
            with oxidoreductases of the endoplasmic reticulum
  JOURNAL   J Biol Chem 289 (16), 11488-11496 (2014)
   PUBMED   24599957
  REMARK    GeneRIF: the faster migrating Tg adduct C primarily engages the
            CaBP1/P5 oxidoreductase, whereas the slower migrating Tg adduct A
            primarily engages ERp72.
REFERENCE   2  (residues 1 to 167)
  AUTHORS   Seeger C, Gorny X, Reddy PP, Seidenbecher C and Danielson UH.
  TITLE     Kinetic and mechanistic differences in the interactions between
            caldendrin and calmodulin with AKAP79 suggest different roles in
            synaptic function
  JOURNAL   J Mol Recognit 25 (10), 495-503 (2012)
   PUBMED   22996592
  REMARK    GeneRIF: Different kinetics of Ca-dependent binding step between
            caldendrin and calmodulin with AKAP79 suggest their different roles
            in synaptic function.
REFERENCE   3  (residues 1 to 167)
  AUTHORS   Gorny X, Mikhaylova M, Seeger C, Reddy PP, Reissner C, Schott BH,
            Helena Danielson U, Kreutz MR and Seidenbecher C.
  TITLE     AKAP79/150 interacts with the neuronal calcium-binding protein
            caldendrin
  JOURNAL   J Neurochem 122 (4), 714-726 (2012)
   PUBMED   22693956
  REMARK    GeneRIF: We demonstrate that calmodulin and caldendrin compete for
            a partially overlapping binding site on AKAP79 and that their
            binding is differentially dependent on calcium
REFERENCE   4  (residues 1 to 167)
  AUTHORS   Park S, Li C and Ames JB.
  TITLE     Nuclear magnetic resonance structure of calcium-binding protein 1
            in a Ca(2+) -bound closed state: implications for target
            recognition
  JOURNAL   Protein Sci 20 (8), 1356-1366 (2011)
   PUBMED   21608059
  REMARK    GeneRIF: Present the NMR structure of full-length CaBP1 with Ca(2+)
            bound at the first, third, and fourth EF-hands.
REFERENCE   5  (residues 1 to 167)
  AUTHORS   Oz S, Tsemakhovich V, Christel CJ, Lee A and Dascal N.
  TITLE     CaBP1 regulates voltage-dependent inactivation and activation of
            Ca(V)1.2 (L-type) calcium channels
  JOURNAL   J Biol Chem 286 (16), 13945-13953 (2011)
   PUBMED   21383011
  REMARK    GeneRIF: CaBP1 regulates voltage-dependent inactivation and
            activation of Ca(V)1.2 (L-type) calcium channels
REFERENCE   6  (residues 1 to 167)
  AUTHORS   Zhou H, Kim SA, Kirk EA, Tippens AL, Sun H, Haeseleer F and Lee A.
  TITLE     Ca2+-binding protein-1 facilitates and forms a postsynaptic complex
            with Cav1.2 (L-type) Ca2+ channels
  JOURNAL   J Neurosci 24 (19), 4698-4708 (2004)
   PUBMED   15140941
  REMARK    GeneRIF: We describe a new role for CaBP1 in regulation of Ca2+
            influx through Ca(v)1.2 (L-type) Ca2+ channels. CaBP1 interacts
            directly with the alpha1 subunit of Ca(v)1.2 at sites that also
            bind Calmodulin
REFERENCE   7  (residues 1 to 167)
  AUTHORS   Haynes LP, Tepikin AV and Burgoyne RD.
  TITLE     Calcium-binding protein 1 is an inhibitor of agonist-evoked,
            inositol 1,4,5-trisphosphate-mediated calcium signaling
  JOURNAL   J Biol Chem 279 (1), 547-555 (2004)
   PUBMED   14570872
  REMARK    GeneRIF: CaBP1 is able to specifically regulate InsP3
            receptor-mediated alterations in [Ca2+]i during agonist
            stimulation.
REFERENCE   8  (residues 1 to 167)
  AUTHORS   Lee A, Westenbroek RE, Haeseleer F, Palczewski K, Scheuer T and
            Catterall WA.
  TITLE     Differential modulation of Ca(v)2.1 channels by calmodulin and
            Ca2+-binding protein 1
  JOURNAL   Nat Neurosci 5 (3), 210-217 (2002)
   PUBMED   11865310
  REMARK    GeneRIF: enhances inactivation, causes a depolarizing shift in the
            voltage dependence of activation, and does not support
            Ca2+-dependent facilitation of Ca(v)2.1 channels
REFERENCE   9  (residues 1 to 167)
  AUTHORS   Haeseleer F, Sokal I, Verlinde CL, Erdjument-Bromage H, Tempst P,
            Pronin AN, Benovic JL, Fariss RN and Palczewski K.
  TITLE     Five members of a novel Ca(2+)-binding protein (CABP) subfamily
            with similarity to calmodulin
  JOURNAL   J Biol Chem 275 (2), 1247-1260 (2000)
   PUBMED   10625670
REFERENCE   10 (residues 1 to 167)
  AUTHORS   Yamaguchi K, Yamaguchi F, Miyamoto O, Sugimoto K, Konishi R, Hatase
            O and Tokuda M.
  TITLE     Calbrain, a novel two EF-hand calcium-binding protein that
            suppresses Ca2+/calmodulin-dependent protein kinase II activity in
            the brain
  JOURNAL   J Biol Chem 274 (6), 3610-3616 (1999)
   PUBMED   9920909
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC069234.35, BM716422.1,
            AF169148.1 and BC030201.1.
            On May 2, 2001 this sequence version replaced NP_004267.1.
            
            Summary: Calcium binding proteins are an important component of
            calcium mediated cellular signal transduction. This gene encodes a
            protein that belongs to a subfamily of calcium binding proteins
            which share similarity to calmodulin. The protein encoded by this
            gene regulates the gating of voltage-gated calcium ion channels.
            This protein inhibits calcium-dependent inactivation and supports
            calcium-dependent facilitation of ion channels containing
            voltage-dependent L-type calcium channel subunit alpha-1C. This
            protein also regulates calcium-dependent activity of inositol
            1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium
            channels, and transient receptor potential channel TRPC5. This gene
            is predominantly expressed in retina and brain. Alternative
            splicing results in multiple transcript variants encoding disinct
            isoforms. [provided by RefSeq, Jul 2012].
            
            Transcript Variant: This variant (2) has an alternate 5' exon, as
            compared to variant 3. The encoded isoform 2 has a distinct and
            shorter N-terminus, as compared to isoform 3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.510477.1, AF169148.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..167
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     Protein         1..167
                     /product="calcium-binding protein 1 isoform 2"
                     /note="calcium binding protein 5; caldendrin"
                     /calculated_mol_wt=19299
     Region          18..165
                     /region_name="PTZ00184"
                     /note="calmodulin; Provisional"
                     /db_xref="CDD:185504"
     CDS             1..167
                     /gene="CABP1"
                     /gene_synonym="CALBRAIN; HCALB_BR"
                     /coded_by="NM_004276.5:362..865"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS9204.1"
                     /db_xref="GeneID:9478"
                     /db_xref="HGNC:HGNC:1384"
                     /db_xref="MIM:605563"
ORIGIN      
        1 mgncvkyplr nlsrkdrslr peeieelrea frefdkdkdg yincrdlgnc mrtmgympte
       61 melielsqqi nmnlgghvdf ddfvelmgpk llaetadmig vkelrdafre fdtngdgeis
      121 tselreamrk llghqvghrd ieeiirdvdl ngdgrvdfee fvrmmsr
//
LOCUS       NP_001362365             761 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger protein 711 isoform 2 [Homo sapiens].
ACCESSION   NP_001362365 XP_016885296
VERSION     NP_001362365.1
DBSOURCE    REFSEQ: accession NM_001375436.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 761)
  AUTHORS   Wang J, Foroutan A, Richardson E, Skinner SA, Reilly J, Kerkhof J,
            Curry CJ, Tarpey PS, Robertson SP, Maystadt I, Keren B, Dixon JW,
            Skinner C, Stapleton R, Ruaud L, Gumus E, Lakeman P, Alders M,
            Tedder ML, Schwartz CE, Friez MJ, Sadikovic B and Stevenson RE.
  TITLE     Clinical findings and a DNA methylation signature in kindreds with
            alterations in ZNF711
  JOURNAL   Eur J Hum Genet 30 (4), 420-427 (2022)
   PUBMED   34992252
  REMARK    GeneRIF: Clinical findings and a DNA methylation signature in
            kindreds with alterations in ZNF711.
REFERENCE   2  (residues 1 to 761)
  AUTHORS   Wu G, Peng H, Tang M, Yang M, Wang J, Hu Y, Li Z, Li J, Li Z and
            Song L.
  TITLE     ZNF711 down-regulation promotes CISPLATIN resistance in epithelial
            ovarian cancer via interacting with JHDM2A and suppressing SLC31A1
            expression
  JOURNAL   EBioMedicine 71, 103558 (2021)
   PUBMED   34521054
  REMARK    GeneRIF: ZNF711 down-regulation promotes CISPLATIN resistance in
            epithelial ovarian cancer via interacting with JHDM2A and
            suppressing SLC31A1 expression.
REFERENCE   3  (residues 1 to 761)
  AUTHORS   Poeta L, Padula A, Lioi MB, van Bokhoven H and Miano MG.
  TITLE     Analysis of a Set of KDM5C Regulatory Genes Mutated in
            Neurodevelopmental Disorders Identifies Temporal Coexpression Brain
            Signatures
  JOURNAL   Genes (Basel) 12 (7), 1088 (2021)
   PUBMED   34356104
  REMARK    GeneRIF: Analysis of a Set of KDM5C Regulatory Genes Mutated in
            Neurodevelopmental Disorders Identifies Temporal Coexpression Brain
            Signatures.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 761)
  AUTHORS   Ni W, Perez AA, Schreiner S, Nicolet CM and Farnham PJ.
  TITLE     Characterization of the ZFX family of transcription factors that
            bind downstream of the start site of CpG island promoters
  JOURNAL   Nucleic Acids Res 48 (11), 5986-6000 (2020)
   PUBMED   32406922
  REMARK    GeneRIF: Characterization of the ZFX family of transcription
            factors that bind downstream of the start site of CpG island
            promoters.
REFERENCE   5  (residues 1 to 761)
  AUTHORS   Poeta L, Padula A, Attianese B, Valentino M, Verrillo L, Filosa S,
            Shoubridge C, Barra A, Schwartz CE, Christensen J, van Bokhoven H,
            Helin K, Lioi MB, Collombat P, Gecz J, Altucci L, Di Schiavi E and
            Miano MG.
  TITLE     Histone demethylase KDM5C is a SAHA-sensitive central hub at the
            crossroads of transcriptional axes involved in multiple
            neurodevelopmental disorders
  JOURNAL   Hum Mol Genet 28 (24), 4089-4102 (2019)
   PUBMED   31691806
REFERENCE   6  (residues 1 to 761)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D,
            Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL,
            Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles
            ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman
            R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P,
            Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E,
            Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA,
            Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A,
            Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM,
            Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N,
            Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford
            EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J,
            Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E,
            Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke
            G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V,
            Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis
            C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H,
            Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ,
            Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL,
            Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert
            J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock
            R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD,
            Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M,
            Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob
            L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S,
            Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A,
            Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L,
            Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD,
            Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall
            J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G,
            Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N,
            Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R,
            Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM,
            Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S,
            Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C,
            Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC,
            Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor
            PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K,
            Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana
            D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A,
            Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G,
            Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL,
            Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D,
            Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ,
            Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M,
            Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T,
            Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   7  (residues 1 to 761)
  AUTHORS   Yntema HG, van den Helm B, Knoers NV, Smits AP, van Roosmalen T,
            Smeets DF, Mariman EC, van der Burgt I, van Bokhoven H, Ropers HH,
            Kremer H and Hamel BC.
  TITLE     X-linked mental retardation: evidence for a recent mutation in a
            five-generation family (MRX65) linked to the pericentromeric region
  JOURNAL   Am J Med Genet 85 (3), 305-308 (1999)
   PUBMED   10398247
REFERENCE   8  (residues 1 to 761)
  AUTHORS   Johnston CM, Shimeld SM and Sharpe PT.
  TITLE     Molecular evolution of the ZFY and ZNF6 gene families
  JOURNAL   Mol Biol Evol 15 (2), 129-137 (1998)
   PUBMED   9491611
REFERENCE   9  (residues 1 to 761)
  AUTHORS   Colleaux L, May M, Belougne J, Lepaslier D, Schwartz C and Fontes
            M.
  TITLE     Localisation of two candidate genes for mental retardation using a
            YAC physical map of the Xq21.1-21.2 subbands
  JOURNAL   J Med Genet 33 (5), 353-357 (1996)
   PUBMED   8733041
REFERENCE   10 (residues 1 to 761)
  AUTHORS   Lloyd SL, Sargent CA, Chalmers J, Lim E, Habeebu SS and Affara NA.
  TITLE     An X-linked zinc finger gene mapping to Xq21.1-q21.3 closely
            related to ZFX and ZFY: possible origins from a common ancestral
            gene
  JOURNAL   Nucleic Acids Res 19 (18), 4835-4841 (1991)
   PUBMED   1923752
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC003001.1.
            On Oct 25, 2019 this sequence version replaced XP_016885296.1.
            
            Summary: This gene encodes a zinc finger protein of unknown
            function. It bears similarity to a zinc finger protein which acts
            as a transcriptional activator. This gene lies in a region of the X
            chromosome which has been associated with cognitive disability.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.891104.1,
                                           SRR18074969.1235021.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..761
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.1"
     Protein         1..761
                     /product="zinc finger protein 711 isoform 2"
                     /note="zinc finger protein 6 (CMPX1); dJ75N13.1
                     (znf6-like)"
                     /calculated_mol_wt=86114
     Region          65..368
                     /region_name="Zfx_Zfy_act"
                     /note="Zfx / Zfy transcription activation region;
                     pfam04704"
                     /db_xref="CDD:428075"
     Region          383..405
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          385..405
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          416..436
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          478..499
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          500..>757
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          507..527
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(512,514,516,518..519,522..523,526,540,542,546..547,
                     550..551,554,569,571,573,575..576,579..580,589)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          515..761
                     /region_name="Required for transcriptional activation.
                     /evidence=ECO:0000269|PubMed:31691806"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y462.2)"
     Region          535..556
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          564..590
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          592..613
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          621..670
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          678..698
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(683,685,687,689..690,693..694,697,711,713,717..718,
                     721..722,726,740,742,744,746..747,750..751,754)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          706..727
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          735..755
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..761
                     /gene="ZNF711"
                     /gene_synonym="CMPX1; dJ75N13.1; MRX65; MRX97; XLID97;
                     Zfp711; ZNF4; ZNF5; ZNF6"
                     /coded_by="NM_001375436.1:607..2892"
                     /note="isoform 2 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS35344.1"
                     /db_xref="GeneID:7552"
                     /db_xref="HGNC:HGNC:13128"
                     /db_xref="MIM:314990"
ORIGIN      
        1 mdsgggslgl htpdsrmaht mimqdfvagm agtahidgdh ivvsvpeavl vsdvvtddgi
       61 tldhglaaev vhgpdiitet dvvtegvivp eavleadvai eedleeddgd hiltselite
      121 tvrvpeqvfv adlvtgpngh lehvvqdcvs gvdsptmvse evlvtnsdte tviqaaggvp
      181 gstvtikted dddddvksts edylmisldd vgeklehmgn tplkigsdgs qedakedgfg
      241 sevikvyifk aeaeddveig gteivtesey tsghsvagvl dqsrmqrekm vymavkdssq
      301 eeddirderr vsrryedcqa sgntldsale srsstaaqyl qicdgintnk vlkqkakkrr
      361 rgetrqwqta viigpdgqpl tvypchictk kfksrgflkr hmknhpdhlm rkkyqctdcd
      421 fttnkkvsfh nhleshklin kvdkthefte ytrryreasp lssnklilrd kepkmhkcky
      481 cdyetaeqgl lnrhllavhs knfphvcvec gkgfrhpsel kkhmrthtge kpyqcqycif
      541 rcadqsnlkt hikskhgnnl pykcehcpqa fgderelqrh ldlfqghkth qcphcdhkst
      601 nssdlkrhii svhtkdfphk cevcdkgfhr pselkkhsdi hkgrkihqcr hcdfktsdpf
      661 ilsghilsvh tkdqplkckr ckrgfrqqne lkkhmkthtg rkiyqceyce ysttdasgfk
      721 rhvisihtkd yphrcefckk gfrrpseknq himrhhkeal m
//
LOCUS       NP_001305019             125 aa            linear   PRI 27-DEC-2022
DEFINITION  AP-3 complex subunit sigma-1 isoform 3 [Homo sapiens].
ACCESSION   NP_001305019
VERSION     NP_001305019.1
DBSOURCE    REFSEQ: accession NM_001318090.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 125)
  AUTHORS   Bultema JJ and Di Pietro SM.
  TITLE     Cell type-specific Rab32 and Rab38 cooperate with the ubiquitous
            lysosome biogenesis machinery to synthesize specialized
            lysosome-related organelles
  JOURNAL   Small GTPases 4 (1), 16-21 (2013)
   PUBMED   23247405
  REMARK    Review article
REFERENCE   2  (residues 1 to 125)
  AUTHORS   Zhou JB, Yang JK, Zhao L and Xin Z.
  TITLE     Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type
            2 diabetes in the Chinese Northern Han population: a case-control
            study and meta-analysis
  JOURNAL   Med Sci Monit 16 (6), BR179-BR183 (2010)
   PUBMED   20512086
  REMARK    GeneRIF: KCNQ and AP3S1, but not MAN2A1 or ALDH7A1 have a role in
            risk of type 2 diabetes in the Chinese Northern Han population
            GeneRIF: Observational study and meta-analysis of gene-disease
            association. (HuGE Navigator)
REFERENCE   3  (residues 1 to 125)
  AUTHORS   Petrenko AA, Pavlova LS, Karseladze AI, Kisseljov FL and Kisseljova
            NP.
  TITLE     Downregulation of genes encoding for subunits of adaptor complex-3
            in cervical carcinomas
  JOURNAL   Biochemistry (Mosc) 71 (10), 1153-1160 (2006)
   PUBMED   17125464
REFERENCE   4  (residues 1 to 125)
  AUTHORS   Theos AC, Tenza D, Martina JA, Hurbain I, Peden AA, Sviderskaya EV,
            Stewart A, Robinson MS, Bennett DC, Cutler DF, Bonifacino JS, Marks
            MS and Raposo G.
  TITLE     Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting
            from endosomes to melanosomes
  JOURNAL   Mol Biol Cell 16 (11), 5356-5372 (2005)
   PUBMED   16162817
REFERENCE   5  (residues 1 to 125)
  AUTHORS   Seong E, Wainer BH, Hughes ED, Saunders TL, Burmeister M and
            Faundez V.
  TITLE     Genetic analysis of the neuronal and ubiquitous AP-3 adaptor
            complexes reveals divergent functions in brain
  JOURNAL   Mol Biol Cell 16 (1), 128-140 (2005)
   PUBMED   15537701
REFERENCE   6  (residues 1 to 125)
  AUTHORS   VanRenterghem B, Morin M, Czech MP and Heller-Harrison RA.
  TITLE     Interaction of insulin receptor substrate-1 with the sigma3A
            subunit of the adaptor protein complex-3 in cultured adipocytes
  JOURNAL   J Biol Chem 273 (45), 29942-29949 (1998)
   PUBMED   9792713
REFERENCE   7  (residues 1 to 125)
  AUTHORS   Dell'Angelica EC, Klumperman J, Stoorvogel W and Bonifacino JS.
  TITLE     Association of the AP-3 adaptor complex with clathrin
  JOURNAL   Science 280 (5362), 431-434 (1998)
   PUBMED   9545220
REFERENCE   8  (residues 1 to 125)
  AUTHORS   Simpson F, Peden AA, Christopoulou L and Robinson MS.
  TITLE     Characterization of the adaptor-related protein complex, AP-3
  JOURNAL   J Cell Biol 137 (4), 835-845 (1997)
   PUBMED   9151686
REFERENCE   9  (residues 1 to 125)
  AUTHORS   Dell'Angelica EC, Ohno H, Ooi CE, Rabinovich E, Roche KW and
            Bonifacino JS.
  TITLE     AP-3: an adaptor-like protein complex with ubiquitous expression
  JOURNAL   EMBO J 16 (5), 917-928 (1997)
   PUBMED   9118953
REFERENCE   10 (residues 1 to 125)
  AUTHORS   Watanabe TK, Shimizu F, Nagata M, Takaichi A, Fujiwara T, Nakamura
            Y, Takahashi E and Hirai Y.
  TITLE     Cloning, expression pattern and mapping to 12p 13.2 --> p13.1 of
            CLAPS3, a gene encoding a novel clathrin-adaptor small chain
  JOURNAL   Cytogenet Cell Genet 73 (3), 214-217 (1996)
   PUBMED   8697810
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB483797.1 and BC000804.1.
            
            Summary: This gene encodes a subunit of the AP3 adaptor complex.
            This complex functions in the formation of subcellular vesicles
            budded from the Golgi body. Several related pseudogenes of this
            gene have been found. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Dec 2015].
            
            Transcript Variant: This variant (3) lacks three alternate in-frame
            exons compared to variant 7. The encoded isoform (3) is shorter
            than isoform 7.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.154003.1,
                                           DRR138524.478159.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..125
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.3-q23.1"
     Protein         1..125
                     /product="AP-3 complex subunit sigma-1 isoform 3"
                     /note="clathrin-associated/assembly/adaptor protein, small
                     3 (22kD); AP-3 complex subunit sigma-1; sigma-adaptin 3a;
                     adapter-related protein complex 3 subunit sigma-1;
                     clathrin-associated/assembly/adapter protein, small 3;
                     clathrin adaptor complex AP3, sigma-3A subunit; adaptor
                     related protein complex 3 sigma 1 subunit"
                     /calculated_mol_wt=13836
     Region          1..78
                     /region_name="longin-like"
                     /note="Longin-like domains; cl38905"
                     /db_xref="CDD:365781"
     CDS             1..125
                     /gene="AP3S1"
                     /gene_synonym="CLAPS3; Sigma3A"
                     /coded_by="NM_001318090.2:104..481"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:1176"
                     /db_xref="HGNC:HGNC:2013"
                     /db_xref="MIM:601507"
ORIGIN      
        1 mikailifnn hgkprlskfy qpyvfvetld kcfenvceld lifhvdkvhn ilaemvmggm
       61 vletnmneiv tqidaqnkle kseaglagap aravsavknm nlpeiprnin igdisikvpn
      121 lpsfk
//
LOCUS       NP_001308663             702 aa            linear   PRI 27-DEC-2022
DEFINITION  exocyst complex component 6B isoform 6 [Homo sapiens].
ACCESSION   NP_001308663
VERSION     NP_001308663.1
DBSOURCE    REFSEQ: accession NM_001321734.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 702)
  AUTHORS   Simsek-Kiper PO, Jacob P, Upadhyai P, Taskiran ZE, Guleria VS,
            Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah
            H, Utine GE, Boduroglu K and Girisha KM.
  TITLE     Biallelic loss-of-function variants in EXOC6B are associated with
            impaired primary ciliogenesis and cause spondylo-epi-metaphyseal
            dysplasia with joint laxity type 3
  JOURNAL   Hum Mutat 43 (12), 2116-2129 (2022)
   PUBMED   36150098
  REMARK    GeneRIF: Biallelic loss-of-function variants in EXOC6B are
            associated with impaired primary ciliogenesis and cause
            spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
            Review article
REFERENCE   2  (residues 1 to 702)
  AUTHORS   Zheng Y, Li Z, Yang S, Wang Y and Luan Z.
  TITLE     CircEXOC6B Suppresses the Proliferation and Motility and Sensitizes
            Ovarian Cancer Cells to Paclitaxel Through miR-376c-3p/FOXO3 Axis
  JOURNAL   Cancer Biother Radiopharm 37 (9), 802-814 (2022)
   PUBMED   33006481
  REMARK    GeneRIF: CircEXOC6B Suppresses the Proliferation and Motility and
            Sensitizes Ovarian Cancer Cells to Paclitaxel Through
            miR-376c-3p/FOXO3 Axis.
REFERENCE   3  (residues 1 to 702)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 702)
  AUTHORS   Girisha KM, Kortum F, Shah H, Alawi M, Dalal A, Bhavani GS and
            Kutsche K.
  TITLE     A novel multiple joint dislocation syndrome associated with a
            homozygous nonsense variant in the EXOC6B gene
  JOURNAL   Eur J Hum Genet 24 (8), 1206-1210 (2016)
   PUBMED   26669664
  REMARK    GeneRIF: Homozygous nonsense variant in EXOC6B identified in two
            brothers with spondyloepimetaphyseal dysplasia and multiple joint
            dislocations syndrome.
REFERENCE   5  (residues 1 to 702)
  AUTHORS   Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y,
            van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ,
            Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ,
            Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B,
            Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM,
            Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E,
            Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ,
            Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U,
            Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB and
            Roepman R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 702)
  AUTHORS   Fruhmesser A, Blake J, Haberlandt E, Baying B, Raeder B, Runz H,
            Spreiz A, Fauth C, Benes V, Utermann G, Zschocke J and Kotzot D.
  TITLE     Disruption of EXOC6B in a patient with developmental delay,
            epilepsy, and a de novo balanced t(2;8) translocation
  JOURNAL   Eur J Hum Genet 21 (10), 1177-1180 (2013)
   PUBMED   23422942
REFERENCE   7  (residues 1 to 702)
  AUTHORS   Heider MR and Munson M.
  TITLE     Exorcising the exocyst complex
  JOURNAL   Traffic 13 (7), 898-907 (2012)
   PUBMED   22420621
  REMARK    Review article
REFERENCE   8  (residues 1 to 702)
  AUTHORS   Feng S, Knodler A, Ren J, Zhang J, Zhang X, Hong Y, Huang S,
            Peranen J and Guo W.
  TITLE     A Rab8 guanine nucleotide exchange factor-effector interaction
            network regulates primary ciliogenesis
  JOURNAL   J Biol Chem 287 (19), 15602-15609 (2012)
   PUBMED   22433857
  REMARK    GeneRIF: Data suggest that the Rabin8-Rab8-Sec15 interaction may
            couple the activation of Rab8 to the recruitment of the Rab8
            effector and is involved in the regulation of vesicular trafficking
            for primary cilium formation.
REFERENCE   9  (residues 1 to 702)
  AUTHORS   Borsani G, Piovani G, Zoppi N, Bertini V, Bini R, Notarangelo L and
            Barlati S.
  TITLE     Cytogenetic and molecular characterization of a de-novo t(2p;7p)
            translocation involving TNS3 and EXOC6B genes in a boy with a
            complex syndromic phenotype
  JOURNAL   Eur J Med Genet 51 (4), 292-302 (2008)
   PUBMED   18424204
  REMARK    GeneRIF: TNS3-EXOC6B and EXOC6B-TNS3 fusion transcripts are
            detected in a premature male newborn with a complex multisystemic
            phenotype associated with a balanced translocation.
REFERENCE   10 (residues 1 to 702)
  AUTHORS   Brymora A, Valova VA, Larsen MR, Roufogalis BD and Robinson PJ.
  TITLE     The brain exocyst complex interacts with RalA in a GTP-dependent
            manner: identification of a novel mammalian Sec3 gene and a second
            Sec15 gene
  JOURNAL   J Biol Chem 276 (32), 29792-29797 (2001)
   PUBMED   11406615
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092630.3, AC016770.10,
            AC104309.3, AC105051.1, AC006461.2 and BM995822.1.
            
            Summary: This gene encodes a protein which is a part of the
            evolutionarily conserved exocyst, a multimeric protein complex
            necessary for exocytosis, which in turn, is crucial for cell
            growth, polarity and migration. Disruption of this gene may be
            associated with phenotypes exhibiting multiple symptoms including
            intellectual disability and developmental delay (DD). [provided by
            RefSeq, Jun 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..702
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.2"
     Protein         1..702
                     /product="exocyst complex component 6B isoform 6"
                     /note="SEC15 homolog B; SEC15-like protein 2; exocyst
                     complex component Sec15B"
                     /calculated_mol_wt=81458
     Region          352..658
                     /region_name="Sec15"
                     /note="Exocyst complex subunit Sec15-like; pfam04091"
                     /db_xref="CDD:427706"
     CDS             1..702
                     /gene="EXOC6B"
                     /gene_synonym="SEC15B; SEC15L2; SEMDJL3"
                     /coded_by="NM_001321734.2:297..2405"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="GeneID:23233"
                     /db_xref="HGNC:HGNC:17085"
                     /db_xref="MIM:607880"
ORIGIN      
        1 meelkqcrlq qrnisatvdk lmlclpvlem ysklrdqmkt krhypalktl ehlehtylpq
       61 vshyrfckvm vdnipklree ikdvsmsdlk dflesirkhs dkigetamkq aqqqrnldni
      121 vlqqprigsk rkskkdayii fdteiestsp kseqdsgild vedeeddeev pgaqdlvdfs
      181 pvyrclhiys vlgaretfen yyrkqrrkqa rlvlqppsnm hetldgyrky fnqivgffvv
      241 edhilhttqg lvnrayidel wemalsktia alrthssycs dpnlvldlkn livlfadtlq
      301 vygfpvnqlf dmlleirdqy setllkkwag ifrnildsdn yspipvtsee mykkvvgqfp
      361 fqdielekqp fpkkfpfsef vpkvynqike fiyaclkfse dlhlsstevd dmirkstnll
      421 ltrtlsnslq nvikrknigl telvqiiint thleksckyl eefitnitnv lpetvhttkl
      481 ygtttfkdar haaeeeiytn lnqkidqflq ladydwmtgd lgnkasdylv dliaflrstf
      541 avfthlpgkv aqtacmsack hlatslmqll leaevrqltl galqqfnldv receqfarsg
      601 pvpgfqedtl qlafidlrql ldlfiqwdws tyladygqpn ckylrvnpvt altllekisr
      661 emkdtsrknn mfaqfrkner dkqklidtva kqlrglissh hs
//
LOCUS       NP_062545                299 aa            linear   PRI 28-DEC-2022
DEFINITION  taste receptor type 2 member 1 isoform 1 [Homo sapiens].
ACCESSION   NP_062545
VERSION     NP_062545.1
DBSOURCE    REFSEQ: accession NM_019599.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 299)
  AUTHORS   Kang W, Wang Y, Li J, Xie W, Zhao D, Wu L, Wang H and Xie S.
  TITLE     TAS2R supports odontoblastic differentiation of human dental pulp
            stem cells in the inflammatory microenvironment
  JOURNAL   Stem Cell Res Ther 13 (1), 374 (2022)
   PUBMED   35902880
  REMARK    GeneRIF: TAS2R supports odontoblastic differentiation of human
            dental pulp stem cells in the inflammatory microenvironment.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 299)
  AUTHORS   Watanabe LM, Pires IF, Noronha NY, Pinhel MAS and Nonino CB.
  TITLE     The influence of bitter-taste receptor (TAS2R) expression in
            pharmacological response to Chloroquine in obese patients with
            COVID-19
  JOURNAL   Clinics (Sao Paulo) 75, e2181 (2020)
   PUBMED   32876108
  REMARK    GeneRIF: The influence of bitter-taste receptor (TAS2R) expression
            in pharmacological response to Chloroquine in obese patients with
            COVID-19.
REFERENCE   3  (residues 1 to 299)
  AUTHORS   Sharma P, Panebra A, Pera T, Tiegs BC, Hershfeld A, Kenyon LC and
            Deshpande DA.
  TITLE     Antimitogenic effect of bitter taste receptor agonists on airway
            smooth muscle cells
  JOURNAL   Am J Physiol Lung Cell Mol Physiol 310 (4), L365-L376 (2016)
   PUBMED   26684251
  REMARK    GeneRIF: TAS2R agonists block signaling downstream of
            phosphatidylinositol 3-kinase
REFERENCE   4  (residues 1 to 299)
  AUTHORS   Wolfle U, Elsholz FA, Kersten A, Haarhaus B, Muller WE and Schempp
            CM.
  TITLE     Expression and functional activity of the bitter taste receptors
            TAS2R1 and TAS2R38 in human keratinocytes
  JOURNAL   Skin Pharmacol Physiol 28 (3), 137-146 (2015)
   PUBMED   25573083
  REMARK    GeneRIF: Expression and functional activity of the bitter taste
            receptors TAS2R1 and TAS2R38 in human keratinocytes
REFERENCE   5  (residues 1 to 299)
  AUTHORS   Khor SS, Miyagawa T, Toyoda H, Yamasaki M, Kawamura Y, Tanii H,
            Okazaki Y, Sasaki T, Lin L, Faraco J, Rico T, Honda Y, Honda M,
            Mignot E and Tokunaga K.
  TITLE     Genome-wide association study of HLA-DQB1*06:02 negative essential
            hypersomnia
  JOURNAL   PeerJ 1, e66 (2013)
   PUBMED   23646285
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 299)
  AUTHORS   Matsunami H, Montmayeur JP and Buck LB.
  TITLE     A family of candidate taste receptors in human and mouse
  JOURNAL   Nature 404 (6778), 601-604 (2000)
   PUBMED   10766242
REFERENCE   7  (residues 1 to 299)
  AUTHORS   Firestein,S.
  TITLE     The good taste of genomics
  JOURNAL   Nature 404 (6778), 552-553 (2000)
   PUBMED   10766221
REFERENCE   8  (residues 1 to 299)
  AUTHORS   Chandrashekar J, Mueller KL, Hoon MA, Adler E, Feng L, Guo W, Zuker
            CS and Ryba NJ.
  TITLE     T2Rs function as bitter taste receptors
  JOURNAL   Cell 100 (6), 703-711 (2000)
   PUBMED   10761935
REFERENCE   9  (residues 1 to 299)
  AUTHORS   Adler E, Hoon MA, Mueller KL, Chandrashekar J, Ryba NJ and Zuker
            CS.
  TITLE     A novel family of mammalian taste receptors
  JOURNAL   Cell 100 (6), 693-702 (2000)
   PUBMED   10761934
REFERENCE   10 (residues 1 to 299)
  AUTHORS   Kinnamon SC.
  TITLE     A plethora of taste receptors
  JOURNAL   Neuron 25 (3), 507-510 (2000)
   PUBMED   10774719
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC034214.5.
            
            Summary: This gene encodes a member of a family of candidate taste
            receptors that are members of the G protein-coupled receptor
            superfamily and that are specifically expressed by taste receptor
            cells of the tongue and palate epithelia. This intronless taste
            receptor gene encodes a 7-transmembrane receptor protein,
            functioning as a bitter taste receptor. This gene is mapped to
            chromosome 5p15, the location of a genetic locus (PROP) that
            controls the detection of the bitter compound
            6-n-propyl-2-thiouracil. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC095521.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382492.4/ ENSP00000371932.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..299
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.31"
     Protein         1..299
                     /product="taste receptor type 2 member 1 isoform 1"
                     /note="taste receptor, family B, member 7; taste receptor,
                     type 2, member 1"
                     /calculated_mol_wt=34202
     Region          7..289
                     /region_name="7tm_TAS2R1"
                     /note="mammalian taste receptor 2, subtype 1, member of
                     the seven-transmembrane G protein-coupled receptor
                     superfamily; cd15016"
                     /db_xref="CDD:320144"
     Region          8..33
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320144"
     Site            10..30
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYW7.1)"
     Region          45..69
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320144"
     Site            56..76
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYW7.1)"
     Region          79..101
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320144"
     Site            82..102
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYW7.1)"
     Site            125..145
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYW7.1)"
     Region          128..144
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320144"
     Site            163
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NYW7.1)"
     Region          172..195
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320144"
     Site            179..199
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYW7.1)"
     Region          220..245
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320144"
     Site            223..243
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYW7.1)"
     Region          256..281
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320144"
     Site            258..278
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYW7.1)"
     CDS             1..299
                     /gene="TAS2R1"
                     /gene_synonym="T2R1; TRB7"
                     /coded_by="NM_019599.3:320..1219"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS3876.1"
                     /db_xref="GeneID:50834"
                     /db_xref="HGNC:HGNC:14909"
                     /db_xref="MIM:604796"
ORIGIN      
        1 mleshliiyf llaviqfllg iftngiivvv ngidlikhrk mapldlllsc lavsriflql
       61 fifyvnvivi ffiefimcsa ncaillfine lelwlatwlg vfycakvasv rhplfiwlkm
      121 risklvpwmi lgsllyvsmi cvfhskyagf mvpyflrkff sqnatiqked tlaiqifsfv
      181 aefsvpllif lfavlllifs lgrhtrqmrn tvagsrvpgr gapisallsi lsflilyfsh
      241 cmikvflssl kfhirrfifl ffilvigiyp sghslililg npklkqnakk fllhskccq
//
LOCUS       NP_001369377             663 aa            linear   PRI 28-DEC-2022
DEFINITION  fermitin family homolog 3 short isoform [Homo sapiens].
ACCESSION   NP_001369377
VERSION     NP_001369377.1
DBSOURCE    REFSEQ: accession NM_001382448.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 663)
  AUTHORS   Tang Y, Nan N, Gui C, Zhou X, Jiang W and Zhou X.
  TITLE     Blockage of PD-L1 by FERMT3-mediated Wnt/beta-catenin signalling
            regulates chemoresistance and immune evasion of colorectal cancer
            cells
  JOURNAL   Clin Exp Pharmacol Physiol 49 (9), 988-997 (2022)
   PUBMED   35672907
  REMARK    GeneRIF: Blockage of PD-L1 by FERMT3-mediated Wnt/beta-catenin
            signalling regulates chemoresistance and immune evasion of
            colorectal cancer cells.
REFERENCE   2  (residues 1 to 663)
  AUTHORS   Su X, Chen J, Lin X, Chen X, Zhu Z, Wu W, Lin H, Wang J, Ye X and
            Zeng Y.
  TITLE     FERMT3 mediates cigarette smoke-induced epithelial-mesenchymal
            transition through Wnt/beta-catenin signaling
  JOURNAL   Respir Res 22 (1), 286 (2021)
   PUBMED   34742298
  REMARK    GeneRIF: FERMT3 mediates cigarette smoke-induced
            epithelial-mesenchymal transition through Wnt/beta-catenin
            signaling.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 663)
  AUTHORS   Dudiki T, Mahajan G, Liu H, Zhevlakova I, Bertagnolli C, Nascimento
            DW, Kothapalli CR and Byzova TV.
  TITLE     Kindlin3 regulates biophysical properties and mechanics of membrane
            to cortex attachment
  JOURNAL   Cell Mol Life Sci 78 (8), 4003-4018 (2021)
   PUBMED   33783564
  REMARK    GeneRIF: Kindlin3 regulates biophysical properties and mechanics of
            membrane to cortex attachment.
REFERENCE   4  (residues 1 to 663)
  AUTHORS   Kerr BA, Shi L, Jinnah AH, Harris KS, Willey JS, Lennon DP, Caplan
            AI and Byzova TV.
  TITLE     Kindlin-3 mutation in mesenchymal stem cells results in enhanced
            chondrogenesis
  JOURNAL   Exp Cell Res 399 (2), 112456 (2021)
   PUBMED   33417921
  REMARK    GeneRIF: Kindlin-3 mutation in mesenchymal stem cells results in
            enhanced chondrogenesis.
REFERENCE   5  (residues 1 to 663)
  AUTHORS   Bozdogan O, Guresci S, Ocalan D and Bozdogan N.
  TITLE     Kindlin-3 and RASSF6 are probable biomarkers for predicting
            metastasis in cutaneous melanoma
  JOURNAL   Pol J Pathol 72 (3), 237-244 (2021)
   PUBMED   35048636
  REMARK    GeneRIF: Kindlin-3 and RASSF6 are probable biomarkers for
            predicting metastasis in cutaneous melanoma.
REFERENCE   6  (residues 1 to 663)
  AUTHORS   Wang L, Deng W, Shi T and Ma D.
  TITLE     URP2SF, a FERM and PH domain containing protein, regulates
            NF-kappaB and apoptosis
  JOURNAL   Biochem Biophys Res Commun 368 (4), 899-906 (2008)
   PUBMED   18280249
  REMARK    GeneRIF: our data show for the first time that URP2SF may act as a
            transcriptional repressor in NF-kappaB signaling pathway and
            regulate cell apoptotic pathway.
REFERENCE   7  (residues 1 to 663)
  AUTHORS   Lehner B and Sanderson CM.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   8  (residues 1 to 663)
  AUTHORS   Boyd RS, Adam PJ, Patel S, Loader JA, Berry J, Redpath NT, Poyser
            HR, Fletcher GC, Burgess NA, Stamps AC, Hudson L, Smith P,
            Griffiths M, Willis TG, Karran EL, Oscier DG, Catovsky D, Terrett
            JA and Dyer MJ.
  TITLE     Proteomic analysis of the cell-surface membrane in chronic
            lymphocytic leukemia: identification of two novel proteins, BCNP1
            and MIG2B
  JOURNAL   Leukemia 17 (8), 1605-1612 (2003)
   PUBMED   12886250
  REMARK    GeneRIF: expressed preferentially in B cells; MIG2B is in a highly
            conserved and defined gene family containing two
            plasma-membrane-binding ezrin/radixin/moesin domains and a
            pleckstrin homology domain
REFERENCE   9  (residues 1 to 663)
  AUTHORS   Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC,
            South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M,
            Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A,
            Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E,
            Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S,
            Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F,
            Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA
            and Epstein EH.
  TITLE     Loss of kindlin-1, a human homolog of the Caenorhabditis elegans
            actin-extracellular-matrix linker protein UNC-112, causes Kindler
            syndrome
  JOURNAL   Am J Hum Genet 73 (1), 174-187 (2003)
   PUBMED   12789646
REFERENCE   10 (residues 1 to 663)
  AUTHORS   Weinstein EJ, Bourner M, Head R, Zakeri H, Bauer C and Mazzarella
            R.
  TITLE     URP1: a member of a novel family of PH and FERM domain-containing
            membrane-associated proteins is significantly over-expressed in
            lung and colon carcinomas
  JOURNAL   Biochim Biophys Acta 1637 (3), 207-216 (2003)
   PUBMED   12697302
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP005668.2.
            
            Summary: Kindlins are a small family of proteins that mediate
            protein-protein interactions involved in integrin activation and
            thereby have a role in cell adhesion, migration, differentiation,
            and proliferation. The protein encoded by this gene has a key role
            in the regulation of hemostasis and thrombosis. This protein may
            also help maintain the membrane skeleton of erythrocytes. Mutations
            in this gene cause the autosomal recessive leukocyte adhesion
            deficiency syndrome-III (LAD-III). Alternative splicing results in
            multiple transcript variants encoding distinct isoforms. [provided
            by RefSeq, Jan 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR14038194.539285.1, SRR14038193.3341938.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2149004 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..663
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     Protein         1..663
                     /product="fermitin family homolog 3 short isoform"
                     /note="UNC-112 related protein 2; kindlin 3; MIG2-like
                     protein; unc-112-related protein 2; fermitin family
                     homolog 3; fermitin family member 3"
                     /calculated_mol_wt=75299
     Site            8
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86UX7.1)"
     Site            11
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q86UX7.1)"
     Region          15..97
                     /region_name="FERM_F0_KIND3"
                     /note="FERM (Four.1 protein, Ezrin, Radixin, Moesin)
                     domain, F0 sub-domain, found in kindlin-3 (KIND3);
                     cd17182"
                     /db_xref="CDD:340702"
     Region          98..254
                     /region_name="FERM_F1_KIND3"
                     /note="FERM (Four.1 protein, Ezrin, Radixin, Moesin)
                     domain, F1 sub-domain, found in kindlin-3 (KIND3);
                     cd17185"
                     /db_xref="CDD:340705"
     Region          <218..>315
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          350..474
                     /region_name="PH_fermitin"
                     /note="Fermitin family pleckstrin homology (PH) domain;
                     cd01237"
                     /db_xref="CDD:269943"
     Site            order(358,360,362,366..368,370,383,385,396)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:269943"
     Region          <463..553
                     /region_name="FERM_M"
                     /note="FERM central domain; pfam00373"
                     /db_xref="CDD:425644"
     Site            500
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q86UX7.1)"
     Region          548..639
                     /region_name="FERM_C_fermitin"
                     /note="FERM domain C-lobe of the Fermitin family; cd13205"
                     /db_xref="CDD:270026"
     Site            order(558,576,578,586)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270026"
     Site            587
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86UX7.1)"
     Site            order(590,595..598,628,632,635..636)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270026"
     Site            628..639
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270026"
     CDS             1..663
                     /gene="FERMT3"
                     /gene_synonym="KIND3; MIG-2; MIG2B; UNC112C; URP2; URP2SF"
                     /coded_by="NM_001382448.1:206..2197"
                     /note="short isoform is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS8059.1"
                     /db_xref="GeneID:83706"
                     /db_xref="HGNC:HGNC:23151"
                     /db_xref="MIM:607901"
ORIGIN      
        1 magmktasgd yidsswelrv fvgeedpeae svtlrvtges higgvllkiv eqinrkqdws
       61 dhaiwweqkr qwllqthwtl dkygiladar lffgpqhrpv ilrlpnrral rlrasfsqpl
      121 fqavaaicrl lsirhpeels llrapekkek kkkekepeee lydlskvvla ggvapalfrg
      181 mpahfsdsaq teacyhmlsr pqpppdplll qrlprpssls dktqlhsrwl dssrclmqqg
      241 ikagdalwlr fkyysffdld pktdpvrltq lyeqarwdll leeidcteee mmvfaalqyh
      301 inklsqsgev gepagtdpgl ddldvalsnl evklegsapt dvldslttip elkdhlrifr
      361 prkltlkgyr qhwvvfkett lsyyksqdea pgdpiqqlnl kgcevvpdvn vsgqkfcikl
      421 lvpspegmse iylrcqdeqq yarwmagcrl askgrtmads sytsevqail aflslqrtgs
      481 ggpgnhphgp dasaeglnpy glvaprfqrk fkakqltpri leahqnvaql slaeaqlrfi
      541 qawqslpdfg isyvmvrfkg srkdeilgia nnrliridla vgdvvktwrf snmrqwnvnw
      601 dirqvaiefd ehinvafscv sascrivhey iggyiflstr erargeelde dlflqltggh
      661 eaf
//
LOCUS       NP_001371635             750 aa            linear   PRI 29-DEC-2022
DEFINITION  band 4.1-like protein 3 isoform 25 [Homo sapiens].
ACCESSION   NP_001371635 XP_016881149
VERSION     NP_001371635.1
DBSOURCE    REFSEQ: accession NM_001384706.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 750)
  AUTHORS   Dickey BL, Nedjai B, Preece MD, Schell MJ, Boulware D, Whiting J,
            Sirak B, Abrahamsen M, Isaacs-Soriano KA, Kennedy K, Chung CH and
            Giuliano AR.
  TITLE     Methylation of HPV16 and EPB41L3 in oral gargles and the detection
            of early and late oropharyngeal cancer
  JOURNAL   Cancer Med 11 (20), 3735-3742 (2022)
   PUBMED   35619332
  REMARK    GeneRIF: Methylation of HPV16 and EPB41L3 in oral gargles and the
            detection of early and late oropharyngeal cancer.
REFERENCE   2  (residues 1 to 750)
  AUTHORS   Tuerxun G, Abulimiti T, Abudurexiti G, Abuduxikuer G, Zhang Y and
            Abulizi G.
  TITLE     Over-expression of EPB41L3 promotes apoptosis of human cervical
            carcinoma cells through PI3K/AKT signaling
  JOURNAL   Acta Biochim Pol 69 (2), 283-289 (2022)
   PUBMED   35569139
  REMARK    GeneRIF: Over-expression of EPB41L3 promotes apoptosis of human
            cervical carcinoma cells through PI3K/AKT signaling.
REFERENCE   3  (residues 1 to 750)
  AUTHORS   Zhang S, Guo M, Guo T, Yang M, Cheng J, Cui C, Kang J, Wang J, Nian
            Y, Ma W, Weng H and Weng H.
  TITLE     DAL-1/4.1B promotes the uptake of exosomes in lung cancer cells via
            Heparan Sulfate Proteoglycan 2 (HSPG2)
  JOURNAL   Mol Cell Biochem 477 (1), 241-254 (2022)
   PUBMED   34657240
  REMARK    GeneRIF: DAL-1/4.1B promotes the uptake of exosomes in lung cancer
            cells via Heparan Sulfate Proteoglycan 2 (HSPG2).
REFERENCE   4  (residues 1 to 750)
  AUTHORS   Wang H, Jiang Y, Yu L, Xu L, Guan R, Cai M, Dong K, Liang X, Bai J
            and Yu J.
  TITLE     The rs9953490 polymorphism of DAL-1 gene is associated with gastric
            cancer risk in the Han population in Northeast China
  JOURNAL   BMC Gastroenterol 21 (1), 354 (2021)
   PUBMED   34579655
  REMARK    GeneRIF: The rs9953490 polymorphism of DAL-1 gene is associated
            with gastric cancer risk in the Han population in Northeast China.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 750)
  AUTHORS   Yuan X, Piao L, Wang L, Han X, Tong L, Shao S, Xu X, Zhuang M and
            Liu Z.
  TITLE     Erythrocyte membrane protein band 4.1-like 3 inhibits osteosarcoma
            cell invasion through regulation of Snai1-induced
            epithelial-to-mesenchymal transition
  JOURNAL   Aging (Albany NY) 13 (2), 1947-1961 (2020)
   PUBMED   33323539
  REMARK    GeneRIF: Erythrocyte membrane protein band 4.1-like 3 inhibits
            osteosarcoma cell invasion through regulation of Snai1-induced
            epithelial-to-mesenchymal transition.
REFERENCE   6  (residues 1 to 750)
  AUTHORS   Tan JS, Mohandas N and Conboy JG.
  TITLE     Evolutionarily conserved coupling of transcription and alternative
            splicing in the EPB41 (protein 4.1R) and EPB41L3 (protein 4.1B)
            genes
  JOURNAL   Genomics 86 (6), 701-707 (2005)
   PUBMED   16242908
REFERENCE   7  (residues 1 to 750)
  AUTHORS   Tran YK, Bogler O, Gorse KM, Wieland I, Green MR and Newsham IF.
  TITLE     A novel member of the NF2/ERM/4.1 superfamily with growth
            suppressing properties in lung cancer
  JOURNAL   Cancer Res 59 (1), 35-43 (1999)
   PUBMED   9892180
REFERENCE   8  (residues 1 to 750)
  AUTHORS   Peters LL, Weier HU, Walensky LD, Snyder SH, Parra M, Mohandas N
            and Conboy JG.
  TITLE     Four paralogous protein 4.1 genes map to distinct chromosomes in
            mouse and human
  JOURNAL   Genomics 54 (2), 348-350 (1998)
   PUBMED   9828140
REFERENCE   9  (residues 1 to 750)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   10 (residues 1 to 750)
  AUTHORS   Adams MD, Soares MB, Kerlavage AR, Fields C and Venter JC.
  TITLE     Rapid cDNA sequencing (expressed sequence tags) from a
            directionally cloned human infant brain cDNA library
  JOURNAL   Nat Genet 4 (4), 373-380 (1993)
   PUBMED   8401585
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001032.5, AP005059.2 and AP005671.2.
            On Jun 26, 2020 this sequence version replaced XP_016881149.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.255264.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..750
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.31"
     Protein         1..750
                     /product="band 4.1-like protein 3 isoform 25"
                     /note="band 4.1-like protein 3; differentially expressed
                     in adenocarcinoma of the lung protein 1"
                     /calculated_mol_wt=83946
     Region          3..192
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          187..280
                     /region_name="FERM_C_4_1_family"
                     /note="FERM domain C-lobe of Protein 4.1 family; cd13184"
                     /db_xref="CDD:270005"
     Site            order(196,213,215,221)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270005"
     Site            order(225,230..233,268,272,275..276)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Site            268..279
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Region          289..332
                     /region_name="FA"
                     /note="FERM adjacent (FA); pfam08736"
                     /db_xref="CDD:430180"
     Region          421..469
                     /region_name="SAB"
                     /note="SAB domain; pfam04382"
                     /db_xref="CDD:427911"
     Region          636..742
                     /region_name="4_1_CTD"
                     /note="4.1 protein C-terminal domain (CTD); pfam05902"
                     /db_xref="CDD:428665"
     CDS             1..750
                     /gene="EPB41L3"
                     /gene_synonym="4.1B; DAL-1; DAL1"
                     /coded_by="NM_001384706.1:593..2845"
                     /note="isoform 25 is encoded by transcript variant 30"
                     /db_xref="GeneID:23136"
                     /db_xref="HGNC:HGNC:3380"
                     /db_xref="MIM:605331"
ORIGIN      
        1 mqckvilldg seytcdvekr srgqvlfdkv cehlnllekd yfgltyrdae nqknwldpak
       61 eikkqvrsga whfsfnvkfy ppdpaqlsed itryylclql rddivsgrlp csfvtlallg
      121 sytvqselgd ydpdecgsdy isefrfapnh tkeledkvie lhkshrgmtp aeaemhflen
      181 akklsmygvd lhhakdsegv eimlgvcasg lliyrdrlri nrfawpkvlk isykrnnfyi
      241 kirpgefeqf estigfklpn hraakrlwkv cvehhtffrl llpeappkkf ltlgskfrys
      301 grtqaqtrra salidrpapy ferssskryt msrsldgevg tgqyattkgi sqtnlittvt
      361 pekkaeeerd eeedkrrkge evtpisairh egktdsertd taadgettat esdqeedael
      421 kaqelektqd dlmkhqtnis elkrtflets tdtavtnewe krlstspvrl aarqedapmi
      481 eplvpeekme tktessgiet eptvhhlpls tekvvqetvl veerrvvhas gdasysagds
      541 gdaaaqpaft gikgkegsal tegakeegge evakavleqe etaaasrerq eeqsaaihis
      601 etleqkphfe sstvktetis fgsvspggvk leistkevpv vhtetktity essqvdpgtd
      661 lepgvlmsaq titsettstt ttthitktvk ggisetriek rivitgdadi dhdqalaqai
      721 keakeqhpdm svtkvvvhke teitpedged
//
LOCUS       NP_001165339             307 aa            linear   PRI 29-DEC-2022
DEFINITION  transmembrane protein 200B [Homo sapiens].
ACCESSION   NP_001165339
VERSION     NP_001165339.1
DBSOURCE    REFSEQ: accession NM_001171868.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 307)
  AUTHORS   Pickard BS, Malloy MP, Clark L, Lehellard S, Ewald HL, Mors O,
            Porteous DJ, Blackwood DH and Muir WJ.
  TITLE     Candidate psychiatric illness genes identified in patients with
            pericentric inversions of chromosome 18
  JOURNAL   Psychiatr Genet 15 (1), 37-44 (2005)
   PUBMED   15722956
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC110336.1 and AI367819.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC110336.1, SRR14038194.959722.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..307
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.3"
     Protein         1..307
                     /product="transmembrane protein 200B"
                     /note="two transmembrane B; transmembrane protein TTMA;
                     two transmembrane domain-containing family member B"
                     /calculated_mol_wt=32619
     Region          1..38
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YZ2.1)"
     Region          <50..147
                     /region_name="DUF2371"
                     /note="Uncharacterized conserved protein (DUF2371);
                     pfam10177"
                     /db_xref="CDD:431113"
     Site            53..73
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YZ2.1)"
     Region          81..111
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YZ2.1)"
     Site            88
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q69YZ2.1)"
     Site            116..136
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YZ2.1)"
     Region          180..211
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YZ2.1)"
     CDS             1..307
                     /gene="TMEM200B"
                     /gene_synonym="TTMB"
                     /coded_by="NM_001171868.2:159..1082"
                     /db_xref="CCDS:CCDS30658.1"
                     /db_xref="GeneID:399474"
                     /db_xref="HGNC:HGNC:33785"
ORIGIN      
        1 mtagspeecg evrrspegrv srlgrrlgrr rrprsppepl rvrarlrlrs psgafaalga
       61 lvvlvgmgia vagywphrag apgsraanas spqmselrre grgggrahgp herlrllgpv
      121 imgvglfvfi cantllyenr dletrrlrqg vlraqalrpp dgpgwdcall pspgprspra
      181 vgcaepeiwd psprrgtspv psvrslrsep anprlglpal lnsyplkgpg lpppwgprtq
      241 tghviitvqp sgsciehsks ldlglgelll gapaardcah rswprldrls lggyaklggg
      301 gdlgarv
//
LOCUS       NP_001372334             670 aa            linear   PRI 29-DEC-2022
DEFINITION  neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens].
ACCESSION   NP_001372334
VERSION     NP_001372334.1
DBSOURCE    REFSEQ: accession NM_001385405.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 670)
  AUTHORS   Wu H, Zhai LT, Guo XX, Rety S and Xi XG.
  TITLE     The N-terminal of NBPF15 causes multiple types of aggregates and
            mediates phase transition
  JOURNAL   Biochem J 477 (2), 445-458 (2020)
   PUBMED   31808794
  REMARK    GeneRIF: We suggest that the entanglements between the mosaic
            disorder-ordered segments in NBPF15 N terminus have triggered the
            multiple types of aggregates and phase transition of NBPF15
            proteins, which could be associated with Olduvai-related cognitive
            dysfunction diseases
REFERENCE   2  (residues 1 to 670)
  AUTHORS   O'Bleness MS, Dickens CM, Dumas LJ, Kehrer-Sawatzki H, Wyckoff GJ
            and Sikela JM.
  TITLE     Evolutionary history and genome organization of DUF1220 protein
            domains
  JOURNAL   G3 (Bethesda) 2 (9), 977-986 (2012)
   PUBMED   22973535
REFERENCE   3  (residues 1 to 670)
  AUTHORS   Vandepoele K, Van Roy N, Staes K, Speleman F and van Roy F.
  TITLE     A novel gene family NBPF: intricate structure generated by gene
            duplications during primate evolution
  JOURNAL   Mol Biol Evol 22 (11), 2265-2274 (2005)
   PUBMED   16079250
REFERENCE   4  (residues 1 to 670)
  AUTHORS   Rual JF, Hirozane-Kishikawa T, Hao T, Bertin N, Li S, Dricot A, Li
            N, Rosenberg J, Lamesch P, Vidalain PO, Clingingsmith TR, Hartley
            JL, Esposito D, Cheo D, Moore T, Simmons B, Sequerra R, Bosak S,
            Doucette-Stamm L, Le Peuch C, Vandenhaute J, Cusick ME, Albala JS,
            Hill DE and Vidal M.
  TITLE     Human ORFeome version 1.1: a platform for reverse proteomics
  JOURNAL   Genome Res 14 (10B), 2128-2135 (2004)
   PUBMED   15489335
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC246785.2.
            
            Summary: This gene is a member of the neuroblastoma breakpoint
            family (NBPF) which consists of dozens of recently duplicated genes
            primarily located in segmental duplications on human chromosome 1.
            This gene family has experienced its greatest expansion within the
            human lineage and has expanded, to a lesser extent, among primates
            in general. Members of this gene family are characterized by
            tandemly repeated copies of DUF1220 protein domains. Gene copy
            number variations in the human chromosomal region 1q21.1, where
            most DUF1220 domains are located, have been implicated in a number
            of developmental and neurogenetic diseases such as microcephaly,
            macrocephaly, autism, schizophrenia, cognitive disability,
            congenital heart disease, neuroblastoma, and congenital kidney and
            urinary tract anomalies. Altered expression of some gene family
            members is associated with several types of cancer. This gene
            family contains numerous pseudogenes. [provided by RefSeq, May
            2013].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.266755.1,
                                           SRR14372079.3685528.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..670
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.1"
     Protein         1..670
                     /product="neuroblastoma breakpoint family member 15
                     isoform 1"
                     /note="neuroblastoma breakpoint family, member 16;
                     neuroblastoma breakpoint family member 15"
                     /calculated_mol_wt=77432
     Region          177..240
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          180..201
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N660.2)"
     Region          242..295
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N660.2)"
     Region          271..325
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          334..401
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          409..476
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          484..551
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          558..588
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N660.2)"
     Region          582..644
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     CDS             1..670
                     /gene="NBPF15"
                     /gene_synonym="AB14; AG3; NBPF16"
                     /coded_by="NM_001385405.1:749..2761"
                     /note="isoform 1 is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS72852.1"
                     /db_xref="GeneID:284565"
                     /db_xref="HGNC:HGNC:28791"
                     /db_xref="MIM:610414"
ORIGIN      
        1 mvvsagplss ekaemnilei neklrpqlae kkqqfrnlke kcfltqlagf lanrqkkyky
       61 eeckdlikfm lrnerqfkee klaeqlkqae elrqykvlvh aqereltqlr eklregrdas
      121 rslnehlqal ltpdepdksq gqdlqeqlae gcrltqhlvq klspendndd dedvqvevae
      181 kvqkssapre mqkaeekevp edsleecait csnshgpyds nqphkktkit feedkvdstl
      241 igssshvewe davhiipene sddeeeeekg pvsprnlqes eeeevpqesw degystlsip
      301 pemlasyqsy sstfhsleeq qvcmavdigr hrwdqvkked qeatgprlsr elldekepev
      361 lqdsldrcys tpsgcleltd scqpyrsafy vleqqrvgla idmdeiekyq eveedqdpsc
      421 prlsrellde kepevlqdsl drcystpsdy lelpdlgqpy ssavysleeq ylglaldvdr
      481 ikkdqeeeed qgppcprlsr ellevvepev lqdsldrcys tpsscleqpd scqpygssfy
      541 aleekhvgfs ldvgeiekkg kgkkrrgrrs kkkrrrgrke geddnppcpr lygvlmevee
      601 pevlqdsldr cystpsmyfe qpdsfqhyrs vfysfeeehi sfalyvdnrf ftltvtslhl
      661 vfqmgvifpq
//
LOCUS       NP_001371217             670 aa            linear   PRI 29-DEC-2022
DEFINITION  lebercilin-like protein isoform a [Homo sapiens].
ACCESSION   NP_001371217 XP_024307823
VERSION     NP_001371217.1
DBSOURCE    REFSEQ: accession NM_001384288.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 670)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 670)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 670)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 670)
  AUTHORS   Alves da Silva AF, Machado FB, Pavarino EC, Biselli-Perico JM,
            Zampieri BL, da Silva Francisco Junior R, Mozer Rodrigues PT, Terra
            Machado D, Santos-Reboucas CB, Gomes Fernandes M, Chuva de Sousa
            Lopes SM, Lopes Rios AF and Medina-Acosta E.
  TITLE     Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and
            -Independent Manners
  JOURNAL   PLoS One 11 (4), e0154108 (2016)
   PUBMED   27100087
  REMARK    GeneRIF: RNA-seq evidence of biallelic expression of LCA5L and 10
            neighboring genes in at least one primary human tissue tested
            indicates that the expression of LCA5L is uncoupled from the
            control of the maternally inherited 5mCpG imprints at the WRB
            differentially methylated region (DMR) in disomic controls or
            trisomy (Down syndrome) individuals.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 670)
  AUTHORS   den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns
            KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S,
            Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H,
            Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk
            E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum
            U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF and Roepman R.
  TITLE     Mutations in LCA5, encoding the ciliary protein lebercilin, cause
            Leber congenital amaurosis
  JOURNAL   Nat Genet 39 (7), 889-895 (2007)
   PUBMED   17546029
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF121781.1.
            On Jun 15, 2020 this sequence version replaced XP_024307823.1.
            
            Transcript Variant: This variant (5) differs in the 5' UTR compared
            to variant 1. Variants 1-7 all encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.125657.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..670
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.2"
     Protein         1..670
                     /product="lebercilin-like protein isoform a"
                     /note="lebercilin-like protein; leber congenital amaurosis
                     5-like protein; LCA5L, lebercilin like"
                     /calculated_mol_wt=76374
     Region          30..51
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95447.1)"
     Region          139..331
                     /region_name="Lebercilin"
                     /note="Ciliary protein causing Leber congenital amaurosis
                     disease; pfam15619"
                     /db_xref="CDD:434815"
     Region          374..393
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95447.1)"
     Region          495..516
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95447.1)"
     Region          557..580
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95447.1)"
     Region          609..670
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95447.1)"
     CDS             1..670
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /coded_by="NM_001384288.1:642..2654"
                     /note="isoform a is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS13665.1"
                     /db_xref="GeneID:150082"
                     /db_xref="HGNC:HGNC:1255"
ORIGIN      
        1 msladltktn idehffgval ennrrsaack rspgtgdfsr nsnasnksvd ysrsqcscgs
       61 lssqydysed flcdcsekai nrnylkqpvv kekekkkynv skisqskgqk eisvekkhtw
      121 naslfnsqih miaqrrdama hrilsarlhk ikglknelad mhhkleailt enqflkqlql
      181 rhlkaigkye nsqnnlpqim akhqnevknl rqllrksqek ertlsrklre tdsqllktkd
      241 ilqalqklse dknlaereel thklsiittk mdandkkiqs lekqlrlncr afsrqlaiet
      301 rktlaaqtat ktlqvevkhl qqklkekdre leikniyshr ilknlhdted ypkvsstksv
      361 qadrkilpft smrhqgtqks dvpplttkgk katgnidhke ksteinheip hcvnklpkqe
      421 dskrkyedls geekhlevqi llentgrqkd kkedqekkni fvkeeqelpp kiievihper
      481 esnqedvlvr ekfkrsmqrn gvddtlgkgt apytkgplrq rrhysfteat enlhhglpas
      541 ggpanagnmr yshstgkhls nreemelehs dsgyepsfgk ssrikvkdtt frdkksslme
      601 elfgsgyvlk tdqsspgvak gseeplqske shplppsqas tshafgdskv tvvnsikpss
      661 ptegkrkiii
//
LOCUS       NP_001159588             359 aa            linear   PRI 30-DEC-2022
DEFINITION  tropomodulin-1 [Homo sapiens].
ACCESSION   NP_001159588
VERSION     NP_001159588.1
DBSOURCE    REFSEQ: accession NM_001166116.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 359)
  AUTHORS   Tong K, Zhang C, Yang T, Guo R, Wang X, Guan R and Jin T.
  TITLE     Suggestive evidence of the genetic association of TMOD1 and PTCSC2
            polymorphisms with thyroid carcinoma in the Chinese Han population
  JOURNAL   BMC Endocr Disord 22 (1), 263 (2022)
   PUBMED   36316666
  REMARK    GeneRIF: Suggestive evidence of the genetic association of TMOD1
            and PTCSC2 polymorphisms with thyroid carcinoma in the Chinese Han
            population.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 359)
  AUTHORS   Feng L, Zhang Y, Yang Q, Guo L and Yang F.
  TITLE     MicroRNA-885 regulates the growth and epithelial mesenchymal
            transition of human liver cancer cells by suppressing tropomodulin
            1 expression
  JOURNAL   Arch Biochem Biophys 693, 108588 (2020)
   PUBMED   32937160
  REMARK    GeneRIF: MicroRNA-885 regulates the growth and epithelial
            mesenchymal transition of human liver cancer cells by suppressing
            tropomodulin 1 expression.
REFERENCE   3  (residues 1 to 359)
  AUTHORS   Kumari R, Jiu Y, Carman PJ, Tojkander S, Kogan K, Varjosalo M,
            Gunning PW, Dominguez R and Lappalainen P.
  TITLE     Tropomodulins Control the Balance between Protrusive and
            Contractile Structures by Stabilizing Actin-Tropomyosin Filaments
  JOURNAL   Curr Biol 30 (5), 767-778 (2020)
   PUBMED   32037094
  REMARK    GeneRIF: Tropomodulins Control the Balance between Protrusive and
            Contractile Structures by Stabilizing Actin-Tropomyosin Filaments.
REFERENCE   4  (residues 1 to 359)
  AUTHORS   Wang MY, Chen P and Wang CP.
  TITLE     Targeted regulation of miR-17-5p on TMOD1 promotes the development
            of cardia cancer
  JOURNAL   Eur Rev Med Pharmacol Sci 23 (14), 6170-6178 (2019)
   PUBMED   31364131
  REMARK    GeneRIF: Targeted regulation of miR-17-5p on TMOD1 promotes the
            development of cardia cancer.
REFERENCE   5  (residues 1 to 359)
  AUTHORS   Nowak RB, Papoin J, Gokhin DS, Casu C, Rivella S, Lipton JM, Blanc
            L and Fowler VM.
  TITLE     Tropomodulin 1 controls erythroblast enucleation via regulation of
            F-actin in the enucleosome
  JOURNAL   Blood 130 (9), 1144-1155 (2017)
   PUBMED   28729432
  REMARK    GeneRIF: Tmod1 function in mouse and human erythroblasts, was
            investigated.
REFERENCE   6  (residues 1 to 359)
  AUTHORS   Sung LA, Fan Y and Lin CC.
  TITLE     Gene assignment, expression, and homology of human tropomodulin
  JOURNAL   Genomics 34 (1), 92-96 (1996)
   PUBMED   8661028
REFERENCE   7  (residues 1 to 359)
  AUTHORS   Sung LA and Lin JJ.
  TITLE     Erythrocyte tropomodulin binds to the N-terminus of hTM5, a
            tropomyosin isoform encoded by the gamma-tropomyosin gene
  JOURNAL   Biochem Biophys Res Commun 201 (2), 627-634 (1994)
   PUBMED   8002995
REFERENCE   8  (residues 1 to 359)
  AUTHORS   Ursitti JA and Fowler VM.
  TITLE     Immunolocalization of tropomodulin, tropomyosin and actin in spread
            human erythrocyte skeletons
  JOURNAL   J Cell Sci 107 (Pt 6), 1633-1639 (1994)
   PUBMED   7962203
REFERENCE   9  (residues 1 to 359)
  AUTHORS   Sussman MA, Bilak M, Kedes L, Engel WK and Askanas V.
  TITLE     Tropomodulin is highly concentrated at the postsynaptic domain of
            human and rat neuromuscular junctions
  JOURNAL   Exp Cell Res 209 (2), 388-391 (1993)
   PUBMED   8262158
REFERENCE   10 (residues 1 to 359)
  AUTHORS   Sung LA, Fowler VM, Lambert K, Sussman MA, Karr D and Chien S.
  TITLE     Molecular cloning and characterization of human fetal liver
            tropomodulin. A tropomyosin-binding protein
  JOURNAL   J Biol Chem 267 (4), 2616-2621 (1992)
   PUBMED   1370827
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162385.16, AK314533.1,
            BC002660.2, AF131836.1 and BU783086.1.
            
            Summary: This gene encodes a member of the tropomodulin family. The
            encoded protein is an actin-capping protein that regulates
            tropomyosin by binding to its N-terminus, inhibiting
            depolymerization and elongation of the pointed end of actin
            filaments and thereby influencing the structure of the erythrocyte
            membrane skeleton. Multiple transcript variants encoding the same
            protein have been found for this gene. [provided by RefSeq, Oct
            2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK314533.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155371 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..359
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.33"
     Protein         1..359
                     /product="tropomodulin-1"
                     /note="e-tropomodulin; erythrocyte tropomodulin; E-Tmod"
                     /calculated_mol_wt=40438
     Region          3..143
                     /region_name="Tropomodulin"
                     /note="pfam03250"
                     /db_xref="CDD:427218"
     Region          36..61
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P28289.1)"
     Region          39..138
                     /region_name="Tropomyosin-binding. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P28289.1)"
     Region          <191..>314
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     CDS             1..359
                     /gene="TMOD1"
                     /gene_synonym="D9S57E; ETMOD; TMOD"
                     /coded_by="NM_001166116.2:137..1216"
                     /db_xref="CCDS:CCDS6726.1"
                     /db_xref="GeneID:7111"
                     /db_xref="HGNC:HGNC:11871"
                     /db_xref="MIM:190930"
ORIGIN      
        1 msyrreleky rdldedeilg alteeelrtl eneldeldpd nallpaglrq kdqttkaptg
       61 pfkreelldh lekqakefkd redlvpytge krgkvwvpkq kpldpvlesv tlepeleeal
      121 anasdaelcd iaailgmhtl msnqqyyqal ssssimnkeg lnsvikptqy kpvpdeepns
      181 tdveetleri knndpkleev nlnnirnipi ptlkayaeal kensyvkkfs ivgtrsndpv
      241 ayalaemlke nkvlktlnve snfisgagil rlvealpynt slvemkidnq sqplgnkvem
      301 eivsmlekna tllkfgyhft qqgprlrasn ammnnndlvr krrladltgp iipkcrsgv
//
LOCUS       NP_001258609              68 aa            linear   PRI 30-DEC-2022
DEFINITION  cylicin-1 isoform 2 [Homo sapiens].
ACCESSION   NP_001258609
VERSION     NP_001258609.1
DBSOURCE    REFSEQ: accession NM_001271680.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 68)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   2  (residues 1 to 68)
  AUTHORS   Siddiqui RA, Sauermann U, Altmuller J, Fritzer E, Nothnagel M,
            Dalibor N, Fellay J, Kaup FJ, Stahl-Hennig C, Nurnberg P, Krawczak
            M and Platzer M.
  TITLE     X chromosomal variation is associated with slow progression to AIDS
            in HIV-1-infected women
  JOURNAL   Am J Hum Genet 85 (2), 228-239 (2009)
   PUBMED   19679225
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 68)
  AUTHORS   Ficarro S, Chertihin O, Westbrook VA, White F, Jayes F, Kalab P,
            Marto JA, Shabanowitz J, Herr JC, Hunt DF and Visconti PE.
  TITLE     Phosphoproteome analysis of capacitated human sperm. Evidence of
            tyrosine phosphorylation of a kinase-anchoring protein 3 and
            valosin-containing protein/p97 during capacitation
  JOURNAL   J Biol Chem 278 (13), 11579-11589 (2003)
   PUBMED   12509440
REFERENCE   4  (residues 1 to 68)
  AUTHORS   Hess H, Heid H, Zimbelmann R and Franke WW.
  TITLE     The protein complexity of the cytoskeleton of bovine and human
            sperm heads: the identification and characterization of cylicin II
  JOURNAL   Exp Cell Res 218 (1), 174-182 (1995)
   PUBMED   7737358
REFERENCE   5  (residues 1 to 68)
  AUTHORS   Hess H, Heid H and Franke WW.
  TITLE     Molecular characterization of mammalian cylicin, a basic protein of
            the sperm head cytoskeleton
  JOURNAL   J Cell Biol 122 (5), 1043-1052 (1993)
   PUBMED   8354692
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL627233.9, DB028115.1 and
            BX110674.1.
            
            Summary: This gene encodes a sperm head cytoskeletal protein. The
            encoded protein is associated with the calyx of spermatozoa and
            spermatids. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Nov 2012].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site and lacks an alternate in-frame exon compared to
            variant 1. It encodes a shorter protein (isoform 2) compared to
            isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX110674.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..68
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.1"
     Protein         1..68
                     /product="cylicin-1 isoform 2"
                     /note="cylicin I; multiple-band polypeptide I; cylicin,
                     basic protein of sperm head cytoskeleton 1"
                     /calculated_mol_wt=7767
     Region          7..>57
                     /region_name="Cylicin_N"
                     /note="Cylicin N-terminus; pfam15241"
                     /db_xref="CDD:434563"
     CDS             1..68
                     /gene="CYLC1"
                     /gene_synonym="CYCL1"
                     /coded_by="NM_001271680.2:38..244"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS75998.1"
                     /db_xref="GeneID:1538"
                     /db_xref="HGNC:HGNC:2582"
                     /db_xref="MIM:300768"
ORIGIN      
        1 mslprlkvni rtydnsipis essrkswnqk hfaltfpkpl qrgtndksrp lksqitvtpe
       61 apwihkll
//
LOCUS       NP_001373806             346 aa            linear   PRI 30-DEC-2022
DEFINITION  zinc-regulated GTPase metalloprotein activator 1F isoform 3 [Homo
            sapiens].
ACCESSION   NP_001373806 XP_016870513
VERSION     NP_001373806.1
DBSOURCE    REFSEQ: accession NM_001386877.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 346)
  AUTHORS   Weiss A, Murdoch CC, Edmonds KA, Jordan MR, Monteith AJ, Perera YR,
            Rodriguez Nassif AM, Petoletti AM, Beavers WN, Munneke MJ, Drury
            SL, Krystofiak ES, Thalluri K, Wu H, Kruse ARS, DiMarchi RD,
            Caprioli RM, Spraggins JM, Chazin WJ, Giedroc DP and Skaar EP.
  TITLE     Zn-regulated GTPase metalloprotein activator 1 modulates vertebrate
            zinc homeostasis
  JOURNAL   Cell 185 (12), 2148-2163 (2022)
   PUBMED   35584702
REFERENCE   2  (residues 1 to 346)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX255923.13.
            On Sep 17, 2020 this sequence version replaced XP_016870513.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.391939.1,
                                           SRR14243140.4299890.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..346
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p11.2"
     Protein         1..346
                     /product="zinc-regulated GTPase metalloprotein activator
                     1F isoform 3"
                     /note="COBW domain-containing protein 6; cobalamin
                     synthetase W domain-containing protein 6; cobalamin
                     synthase W domain-containing protein 6; COBW domain
                     containing 7; putative COBW domain-containing protein 7;
                     putative cobalamin synthase W domain-containing protein 7;
                     COBW domain containing 6; zinc-regulated GTPase
                     metalloprotein activator 1F"
                     /calculated_mol_wt=38404
     Region          <19..>62
                     /region_name="COG3044"
                     /note="Predicted ATPase of the ABC class [General function
                     prediction only]"
                     /db_xref="CDD:225586"
     Region          42..327
                     /region_name="YejR"
                     /note="GTPase, G3E family [General function prediction
                     only]; COG0523"
                     /db_xref="CDD:223597"
     CDS             1..346
                     /gene="ZNG1F"
                     /gene_synonym="CBWD6; CBWD7"
                     /coded_by="NM_001386877.1:60..1100"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:644019"
                     /db_xref="HGNC:HGNC:31978"
ORIGIN      
        1 mlpavgsvde eedpaeedcp elvpiettqs eeeeksglga kipvtiitgy lgagkttlln
       61 yilteqhskr vavilnesge gsalekslav sqggelyeew lelrngclcc svkdnglrai
      121 enlmqkkgkf ddillettgl adpgiitivd skyglkhlte ekpdglinea trsinglgqi
      181 letqrsrvdl snvldlhafd slsgislqkk lqhvpgtqph ldqsivtitf dvpgnakeeh
      241 lnmfiqnllw eknvrnkdnh cmevirlkgl vsikdksqqv ivqgvhelcd leetpvswkd
      301 dtertnrlvl igrnldkdil kqlfiatvte tekqwtthfk edqvct
//
LOCUS       NP_001374091             901 aa            linear   PRI 30-DEC-2022
DEFINITION  schlafen family member 11 [Homo sapiens].
ACCESSION   NP_001374091
VERSION     NP_001374091.1
DBSOURCE    REFSEQ: accession NM_001387162.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 901)
  AUTHORS   Metzner FJ, Wenzl SJ, Kugler M, Krebs S, Hopfner KP and Lammens K.
  TITLE     Mechanistic understanding of human SLFN11
  JOURNAL   Nat Commun 13 (1), 5464 (2022)
   PUBMED   36115853
  REMARK    GeneRIF: Mechanistic understanding of human SLFN11.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 901)
  AUTHORS   Zhang B, Stewart CA, Wang Q, Cardnell RJ, Rocha P, Fujimoto J,
            Solis Soto LM, Wang R, Novegil V, Ansell P, He L, Fernandez L,
            Jendrisak A, Gilbertson C, Schonhoft JD, Byun J, Jones J, Anderson
            AKL, Aparicio A, Tran H, Negrao MV, Zhang J, Wang WL, Wistuba II,
            Wang J, Wenstrup R, Byers LA and Gay CM.
  TITLE     Dynamic expression of Schlafen 11 (SLFN11) in circulating tumour
            cells as a liquid biomarker in small cell lung cancer
  JOURNAL   Br J Cancer 127 (3), 569-576 (2022)
   PUBMED   35440668
  REMARK    GeneRIF: Dynamic expression of Schlafen 11 (SLFN11) in circulating
            tumour cells as a liquid biomarker in small cell lung cancer.
REFERENCE   3  (residues 1 to 901)
  AUTHORS   Yin YP, Ma LY, Cao GZ, Hua JH, Lv XT and Lin WC.
  TITLE     FK228 potentiates topotecan activity against small cell lung cancer
            cells via induction of SLFN11
  JOURNAL   Acta Pharmacol Sin 43 (8), 2119-2127 (2022)
   PUBMED   34893686
  REMARK    GeneRIF: FK228 potentiates topotecan activity against small cell
            lung cancer cells via induction of SLFN11.
REFERENCE   4  (residues 1 to 901)
  AUTHORS   Nightingale K, Potts M, Hunter LM, Fielding CA, Zerbe CM,
            Fletcher-Etherington A, Nobre L, Wang ECY, Strang BL, Houghton JW,
            Antrobus R, Suarez NM, Nichols J, Davison AJ, Stanton RJ and Weekes
            MP.
  TITLE     Human cytomegalovirus protein RL1 degrades the antiviral factor
            SLFN11 via recruitment of the CRL4 E3 ubiquitin ligase complex
  JOURNAL   Proc Natl Acad Sci U S A 119 (6) (2022)
   PUBMED   35105802
  REMARK    GeneRIF: Human cytomegalovirus protein RL1 degrades the antiviral
            factor SLFN11 via recruitment of the CRL4 E3 ubiquitin ligase
            complex.
REFERENCE   5  (residues 1 to 901)
  AUTHORS   Willis SE, Winkler C, Roudier MP, Baird T, Marco-Casanova P, Jones
            EV, Rowe P, Rodriguez-Canales J, Angell HK, Ng FSL, Waring PM,
            Hodgson D, Ledermann JA, Weberpals JI, Dean E, Harrington EA,
            Barrett JC, Pierce AJ, Leo E and Jones GN.
  TITLE     Retrospective analysis of Schlafen11 (SLFN11) to predict the
            outcomes to therapies affecting the DNA damage response
  JOURNAL   Br J Cancer 125 (12), 1666-1676 (2021)
   PUBMED   34663950
  REMARK    GeneRIF: Retrospective analysis of Schlafen11 (SLFN11) to predict
            the outcomes to therapies affecting the DNA damage response.
REFERENCE   6  (residues 1 to 901)
  AUTHORS   Mavrommatis E, Fish EN and Platanias LC.
  TITLE     The schlafen family of proteins and their regulation by interferons
  JOURNAL   J Interferon Cytokine Res 33 (4), 206-210 (2013)
   PUBMED   23570387
REFERENCE   7  (residues 1 to 901)
  AUTHORS   Li M, Kao E, Gao X, Sandig H, Limmer K, Pavon-Eternod M, Jones TE,
            Landry S, Pan T, Weitzman MD and David M.
  TITLE     Codon-usage-based inhibition of HIV protein synthesis by human
            schlafen 11
  JOURNAL   Nature 491 (7422), 125-128 (2012)
   PUBMED   23000900
  REMARK    GeneRIF: SLFN11 selectively inhibits viral protein synthesis in
            HIV-infected cells by means of codon-bias discrimination
REFERENCE   8  (residues 1 to 901)
  AUTHORS   Zoppoli G, Regairaz M, Leo E, Reinhold WC, Varma S, Ballestrero A,
            Doroshow JH and Pommier Y.
  TITLE     Putative DNA/RNA helicase Schlafen-11 (SLFN11) sensitizes cancer
            cells to DNA-damaging agents
  JOURNAL   Proc Natl Acad Sci U S A 109 (37), 15030-15035 (2012)
   PUBMED   22927417
  REMARK    GeneRIF: SLFN11 expression is causally associated with the activity
            of DNA-damaging agents in cancer cells, and has a broad expression
            range in colon and ovarian adenocarcinomas.
REFERENCE   9  (residues 1 to 901)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (residues 1 to 901)
  AUTHORS   Schwarz DA, Katayama CD and Hedrick SM.
  TITLE     Schlafen, a new family of growth regulatory genes that affect
            thymocyte development
  JOURNAL   Immunity 9 (5), 657-668 (1998)
   PUBMED   9846487
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC060766.8.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2049849.1,
                                           SRR11853560.12281.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..901
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     Protein         1..901
                     /product="schlafen family member 11"
                     /calculated_mol_wt=102705
     Region          <15..348
                     /region_name="PHA02782"
                     /note="hypothetical protein; Provisional"
                     /db_xref="CDD:165147"
     Region          595..>714
                     /region_name="DUF2075"
                     /note="Uncharacterized conserved protein (DUF2075);
                     pfam09848"
                     /db_xref="CDD:430875"
     CDS             1..901
                     /gene="SLFN11"
                     /gene_synonym="SLFN8/9"
                     /coded_by="NM_001387162.1:266..2971"
                     /db_xref="CCDS:CCDS11294.1"
                     /db_xref="GeneID:91607"
                     /db_xref="HGNC:HGNC:26633"
                     /db_xref="MIM:614953"
ORIGIN      
        1 meanqcplvv epsypdlvin vgevtlgeen rkklqkiqrd qekervmraa callnsgggv
       61 irmakkvehp vemgldleqs lreliqssdl qaffetkqqg rcfyifvksw ssgpfpedrs
      121 vkprlcslss slyrrsetsv rsmdsreafc flktkrkpki leegpfhkih kgvyqelpns
      181 dpadpnsdpa dlifqkdyle ygeilpfpes qlvefkqfst khfqeyvkrt ipeyvpafan
      241 tgggylfigv ddksrevlgc akenvdpdsl rrkieqaiyk lpcvhfcqpq rpitftlkiv
      301 nvlkrgelyg yacmirvnpf ccavfseapn swivedkyvc slttekwvgm mtdtdpdllq
      361 lsedfecqls lssgpplsrp vyskkglehk kelqqllfsv ppgylrytpe slwrdliseh
      421 rgleelinkq mqpffrgili fsrswavdln lqekpgvicd alliaqnstp ilytilreqd
      481 aegqdyctrt aftlkqklvn mggytgkvcv rakvlclspe ssaealeaav spmdypasys
      541 lagtqhmeal lqslvivllg frsllsdqlg cevlnlltaq qyeifsrslr knrelfvhgl
      601 pgsgktimam kimekirnvf hceahrilyv cenqplrnfi sdrnicraet rktflrenfe
      661 hiqhividea qnfrtedgdw ygkaksitrr akggpgilwi fldyfqtshl dcsglpplsd
      721 qypreeltri vrnadpiaky lqkemqvirs npsfniptgc levfpeaews qgvqgtlrik
      781 kyltveqimt cvadtcrrff drgyspkdva vlvstakeve hykyellkam rkkrvvqlsd
      841 acdmlgdhiv ldsvrrfsgl ersivfgihp rtadpailpn vliclasrak qhlyifpwgg
      901 h
//
LOCUS       NP_001333528             714 aa            linear   PRI 30-DEC-2022
DEFINITION  RAD50-interacting protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001333528 XP_016867985
VERSION     NP_001333528.1
DBSOURCE    REFSEQ: accession NM_001346599.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 714)
  AUTHORS   Arnold F, Gout J, Wiese H, Weissinger SE, Roger E, Perkhofer L,
            Walter K, Scheible J, Prelli Bozzo C, Lechel A, Ettrich TJ, Azoitei
            N, Hao L, Furstberger A, Kaminska EK, Sparrer KMJ, Rasche V, Wiese
            S, Kestler HA, Moller P, Seufferlein T, Frappart PO and Kleger A.
  TITLE     RINT1 Regulates SUMOylation and the DNA Damage Response to Preserve
            Cellular Homeostasis in Pancreatic Cancer
  JOURNAL   Cancer Res 81 (7), 1758-1774 (2021)
   PUBMED   33531371
  REMARK    GeneRIF: RINT1 Regulates SUMOylation and the DNA Damage Response to
            Preserve Cellular Homeostasis in Pancreatic Cancer.
REFERENCE   2  (residues 1 to 714)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 714)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 714)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 714)
  AUTHORS   Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M,
            Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez
            LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R,
            Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H,
            Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC and
            Klee EW.
  TITLE     RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute
            Liver Failure and Skeletal Abnormalities
  JOURNAL   Am J Hum Genet 105 (1), 108-121 (2019)
   PUBMED   31204009
  REMARK    GeneRIF: RINT1 Bi-allelic Variations Cause Infantile-Onset
            Recurrent Acute Liver Failure and Skeletal Abnormalities.
REFERENCE   6  (residues 1 to 714)
  AUTHORS   Arasaki K, Taniguchi M, Tani K and Tagaya M.
  TITLE     RINT-1 regulates the localization and entry of ZW10 to the syntaxin
            18 complex
  JOURNAL   Mol Biol Cell 17 (6), 2780-2788 (2006)
   PUBMED   16571679
  REMARK    GeneRIF: RINT-1 coordinates the localization and function of ZW10
            by serving as a link between ZW10 and the SNARE complex comprising
            syntaxin 18.
REFERENCE   7  (residues 1 to 714)
  AUTHORS   Kops GJ, Kim Y, Weaver BA, Mao Y, McLeod I, Yates JR 3rd, Tagaya M
            and Cleveland DW.
  TITLE     ZW10 links mitotic checkpoint signaling to the structural
            kinetochore
  JOURNAL   J Cell Biol 169 (1), 49-60 (2005)
   PUBMED   15824131
REFERENCE   8  (residues 1 to 714)
  AUTHORS   Nakajima K, Hirose H, Taniguchi M, Kurashina H, Arasaki K, Nagahama
            M, Tani K, Yamamoto A and Tagaya M.
  TITLE     Involvement of BNIP1 in apoptosis and endoplasmic reticulum
            membrane fusion
  JOURNAL   EMBO J 23 (16), 3216-3226 (2004)
   PUBMED   15272311
REFERENCE   9  (residues 1 to 714)
  AUTHORS   Hirose H, Arasaki K, Dohmae N, Takio K, Hatsuzawa K, Nagahama M,
            Tani K, Yamamoto A, Tohyama M and Tagaya M.
  TITLE     Implication of ZW10 in membrane trafficking between the endoplasmic
            reticulum and Golgi
  JOURNAL   EMBO J 23 (6), 1267-1278 (2004)
   PUBMED   15029241
REFERENCE   10 (residues 1 to 714)
  AUTHORS   Xiao J, Liu CC, Chen PL and Lee WH.
  TITLE     RINT-1, a novel Rad50-interacting protein, participates in
            radiation-induced G(2)/M checkpoint control
  JOURNAL   J Biol Chem 276 (9), 6105-6111 (2001)
   PUBMED   11096100
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073073.2 and AA281630.1.
            On Oct 21, 2016 this sequence version replaced XP_016867985.1.
            
            Summary: This gene encodes a protein first identified for its
            ability to interact with the RAD50 double strand break repair
            protein, with the resulting interaction implicated in the
            regulation of cell cycle progression and telomere length. The
            encoded protein may also play a role in trafficking of cellular
            cargo from the endosome to the trans-Golgi network. Mutations in
            this gene may be associated with breast cancer in human patients.
            [provided by RefSeq, Oct 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.27753.1,
                                           SRR14038194.4444381.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142363
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..714
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.3"
     Protein         1..714
                     /product="RAD50-interacting protein 1 isoform 2"
                     /note="Rad50-interacting protein 1"
                     /calculated_mol_wt=82211
     Region          226..706
                     /region_name="RINT1_TIP1"
                     /note="RINT-1 / TIP-1 family; pfam04437"
                     /db_xref="CDD:427947"
     CDS             1..714
                     /gene="RINT1"
                     /gene_synonym="ILFS3; RINT-1"
                     /coded_by="NM_001346599.2:213..2357"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:60561"
                     /db_xref="HGNC:HGNC:21876"
                     /db_xref="MIM:610089"
ORIGIN      
        1 mlqfllevnk svkvltisse ipkrirsalk naeeskqfln qfleqethlf sainshllta
       61 qpwmddlgtm isqieeierh laylkwisqi eelsdniqqy lmtnnvpeaa stlvsmaeld
      121 iklqesscth llgfmratvk fwhkilkdkl tsdfeeilaq lhwpfiappq sqtvglsrpa
      181 sapeiysyle tlfcqllklq tsdelltepk qlpekyslpa spsvilpiqv mltplqkrfr
      241 yhfrgnrqtn vlskpewyla qvlmwignht efldekiqpi ldkvgslvna rlefsrglmm
      301 lvleklatdi pcllyddnlf chlvdevllf erelhsvhgy pgtfascmhi lseetcfqrw
      361 ltverkfalq kmdsmlssea awvsqykdit dvdemkvpdc aetfmtlllv itdryknlpt
      421 asrklqflel qkdlvddfri rltqvmkeet raslgfryca ilnavnyist vladwadnvf
      481 flqlqqaale vfaenntlsk lqlgqlasme ssvfddminl lerlkhdmlt rqvdhvfrev
      541 kdaaklykke rwlslpsqse qavmslsssa cpllltlrdh llqleqqlcf slfkifwqml
      601 vekldvyiyq eiilanhfne ggaaqlqfdm trnlfplfsh yckrpenyfk hikeacivln
      661 lnvgsalllk dvlqsasgql pataalnevg iyklaqqdve illnlrtnwp ntgk
//
LOCUS       NP_004890                415 aa            linear   PRI 31-DEC-2022
DEFINITION  BRISC and BRCA1-A complex member 2 isoform 1 [Homo sapiens].
ACCESSION   NP_004890
VERSION     NP_004890.2
DBSOURCE    REFSEQ: accession NM_004899.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 415)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 415)
  AUTHORS   Pinto R, Assis J, Nogueira A, Pereira C, Coelho S, Brandao M, Dias
            J, Alves S, Pereira D and Medeiros R.
  TITLE     Pharmacogenomics in epithelial ovarian cancer first-line treatment
            outcome: validation of GWAS-associated NRG3 rs1649942 and BRE
            rs7572644 variants in an independent cohort
  JOURNAL   Pharmacogenomics J 19 (1), 25-32 (2019)
   PUBMED   30287910
  REMARK    GeneRIF: The BRE rs7572644 and NRG3 rs1649942 genetic variants were
            validated in an independent cohort of EOC Portuguese patients.
REFERENCE   3  (residues 1 to 415)
  AUTHORS   Marneth AE, Prange KHM, Al Hinai ASA, Bergevoet SM, Tesi N,
            Janssen-Megens EM, Kim B, Sharifi N, Yaspo ML, Kuster J, Sanders
            MA, Stoetman ECG, Knijnenburg J, Arentsen-Peters TCJM, Zwaan CM,
            Stunnenberg HG, van den Heuvel-Eibrink MM, Haferlach T, Fornerod M,
            Jansen JH, Valk PJM, van der Reijden BA and Martens JHA.
  TITLE     C-terminal BRE overexpression in 11q23-rearranged and t(8;16) acute
            myeloid leukemia is caused by intragenic transcription initiation
  JOURNAL   Leukemia 32 (3), 828-836 (2018)
   PUBMED   28871137
  REMARK    GeneRIF: C-terminal BRE might be an important contributor to this
            program because in a case with relapsed AML, we observed an
            ins(11;2) fusing CHORDC1 to BRE at the region where intragenic
            transcription starts in KMT2A-rearranged and KAT6A-CREBBP AML.
REFERENCE   4  (residues 1 to 415)
  AUTHORS   Biswas K, Philip S, Yadav A, Martin BK, Burkett S, Singh V, Babbar
            A, North SL, Chang S and Sharan SK.
  TITLE     BRE/BRCC45 regulates CDC25A stability by recruiting USP7 in
            response to DNA damage
  JOURNAL   Nat Commun 9 (1), 537 (2018)
   PUBMED   29416040
  REMARK    GeneRIF: show that BRE facilitates deubiquitylation of CDC25A by
            recruiting ubiquitin-specific-processing protease 7 (USP7) in the
            presence of DNA damage
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 415)
  AUTHORS   Chan BC, Ching AK, To KF, Leung JC, Chen S, Li Q, Lai PB, Tang NL,
            Shaw PC, Chan JY, James AE, Lai KN, Lim PL, Lee KK and Chui YL.
  TITLE     BRE is an antiapoptotic protein in vivo and overexpressed in human
            hepatocellular carcinoma
  JOURNAL   Oncogene 27 (9), 1208-1217 (2008)
   PUBMED   17704801
  REMARK    GeneRIF: Antiapoptotic in vivo; Bre levels are regulated
            post-transcriptionally in the liver, which is not observed in human
            hepatocellular carcinoma (HCC) and non-HCC cell lines.
REFERENCE   6  (residues 1 to 415)
  AUTHORS   Dong Y, Hakimi MA, Chen X, Kumaraswamy E, Cooch NS, Godwin AK and
            Shiekhattar R.
  TITLE     Regulation of BRCC, a holoenzyme complex containing BRCA1 and
            BRCA2, by a signalosome-like subunit and its role in DNA repair
  JOURNAL   Mol Cell 12 (5), 1087-1099 (2003)
   PUBMED   14636569
REFERENCE   7  (residues 1 to 415)
  AUTHORS   Ching AK, Li PS, Li Q, Chan BC, Chan JY, Lim PL, Pang JC and Chui
            YL.
  TITLE     Expression of human BRE in multiple isoforms
  JOURNAL   Biochem Biophys Res Commun 288 (3), 535-545 (2001)
   PUBMED   11676476
REFERENCE   8  (residues 1 to 415)
  AUTHORS   Miao J, Panesar NS, Chan KT, Lai FM, Xia N, Wang Y, Johnson PJ and
            Chan JY.
  TITLE     Differential expression of a stress-modulating gene, BRE, in the
            adrenal gland, in adrenal neoplasia, and in abnormal adrenal
            tissues
  JOURNAL   J Histochem Cytochem 49 (4), 491-500 (2001)
   PUBMED   11259452
REFERENCE   9  (residues 1 to 415)
  AUTHORS   Gu C, Castellino A, Chan JY and Chao MV.
  TITLE     BRE: a modulator of TNF-alpha action
  JOURNAL   FASEB J 12 (12), 1101-1108 (1998)
   PUBMED   9737713
REFERENCE   10 (residues 1 to 415)
  AUTHORS   Li L, Yoo H, Becker FF, Ali-Osman F and Chan JY.
  TITLE     Identification of a brain- and reproductive-organs-specific gene
            responsive to DNA damage and retinoic acid
  JOURNAL   Biochem Biophys Res Commun 206 (2), 764-774 (1995)
   PUBMED   7826398
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK000097.1 and CR994399.1.
            On Jun 10, 2002 this sequence version replaced NP_004890.1.
            
            Summary: This gene encodes an anti-apoptotic, death
            receptor-associated protein that interacts with tumor necrosis
            factor-receptor-1. The encoded protein acts as an adapter in
            several protein complexes, including the BRCA1-A complex and the
            BRISC complex. The BRCA1-A complex possesses ubiquitinase activity
            and targets sites of double strand DNA breaks, while the BRISC
            complex exhibits deubiquitinase activity and is involved in mitotic
            spindle assembly. This gene is upregulated in several types of
            cancer. [provided by RefSeq, Jun 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK000097.1, SRR1803613.267067.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..415
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.2"
     Protein         1..415
                     /product="BRISC and BRCA1-A complex member 2 isoform 1"
                     /note="BRCA1/BRCA2-containing complex, subunit 4; BRCA1-A
                     complex subunit BRE; brain and reproductive
                     organ-expressed (TNFRSF1A modulator);
                     BRCA1/BRCA2-containing complex subunit 45; brain and
                     reproductive organ-expressed protein"
                     /calculated_mol_wt=46844
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:22223895;
                     propagated from UniProtKB/Swiss-Prot (Q9NXR7.2)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NXR7.2)"
     Region          8..332
                     /region_name="BRE"
                     /note="Brain and reproductive organ-expressed protein
                     (BRE); pfam06113"
                     /db_xref="CDD:428776"
     Region          30..147
                     /region_name="UEV-like 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXR7.2)"
     Region          275..364
                     /region_name="UEV-like 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXR7.2)"
     CDS             1..415
                     /gene="BABAM2"
                     /gene_synonym="BRCC4; BRCC45; BRE"
                     /coded_by="NM_004899.5:139..1386"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1764.1"
                     /db_xref="GeneID:9577"
                     /db_xref="HGNC:HGNC:1106"
                     /db_xref="MIM:610497"
ORIGIN      
        1 mspevalnri spmlspfiss vvrngkvgld atnclritdl ksgctsltpg pncdrfklhi
       61 pyagetlkwd iifnaqypel ppdfifgeda eflpdpsalq nlaswnpsnp eclllvvkel
      121 vqqyhqfqcs rlressrlmf eyqtlleepq ygenmeiyag kknnwtgefs arfllklpvd
      181 fsniptyllk dvnedpgedv allsvsfedt eatqvypkly lspriehalg gssalhipaf
      241 pgggclidyv pqvchlltnk vqyviqgyhk rreyiaafls hfgtgvveyd aegftkltll
      301 lmwkdfcflv hidlplffpr dqptltfqsv yhftnsgqly sqaqknypys prwdgnemak
      361 rakgcqgsrd acspweqvla favaktgckl lqpqrnwpss rgppwraseg ertaq
//
LOCUS       NP_001375144             724 aa            linear   PRI 31-DEC-2022
DEFINITION  rap1 GTPase-activating protein 1 isoform 19 [Homo sapiens].
ACCESSION   NP_001375144
VERSION     NP_001375144.1
DBSOURCE    REFSEQ: accession NM_001388215.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 724)
  AUTHORS   Faam B, Ghadiri AA, Ghaffari MA, Totonchi M, Amouzegar A, Azizi F,
            Shahbazian H, Hashemitabar M, Fanaei SA and Khorsandi L.
  TITLE     CpG Island Methylation of the Rap1Gap Gene in Medullary Thyroid
            Cancer
  JOURNAL   Arch Iran Med 25 (3), 171-177 (2022)
   PUBMED   35429959
  REMARK    GeneRIF: CpG Island Methylation of the Rap1Gap Gene in Medullary
            Thyroid Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 724)
  AUTHORS   Shi S, Li J, Li E, Guo W, He Y, Wang J, Zhang Y, Yue L and Wei L.
  TITLE     Simulated Microgravity Increases the Permeability of HUVEC
            Monolayer through Up-Regulation of Rap1GAP and Decreased Rap2
            Activation
  JOURNAL   Int J Mol Sci 23 (2), 630 (2022)
   PUBMED   35054818
  REMARK    GeneRIF: Simulated Microgravity Increases the Permeability of HUVEC
            Monolayer through Up-Regulation of Rap1GAP and Decreased Rap2
            Activation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 724)
  AUTHORS   Yan Z, Yangyanqiu W, Shuwen H, Jing M, Haihong L, Gong C, Yin J,
            Qing Z and Weili G.
  TITLE     Downregulation of Rap1GAP Expression Activates the TGF-beta/Smad3
            Pathway to Inhibit the Expression of Sodium/Iodine Transporter in
            Papillary Thyroid Carcinoma Cells
  JOURNAL   Biomed Res Int 2021, 6840642 (2021)
   PUBMED   34840979
  REMARK    GeneRIF: Downregulation of Rap1GAP Expression Activates the
            TGF-beta/Smad3 Pathway to Inhibit the Expression of Sodium/Iodine
            Transporter in Papillary Thyroid Carcinoma Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 724)
  AUTHORS   Faam B, Ghaffari MA, Khorsandi L, Ghadiri AA, Totonchi M, Amouzegar
            A, Fanaei SA, Azizi F, Shahbazian HB and Hashemi Tabar M.
  TITLE     RAP1GAP Functions as a Tumor Suppressor Gene and Is Regulated by
            DNA Methylation in Differentiated Thyroid Cancer
  JOURNAL   Cytogenet Genome Res 161 (5), 227-235 (2021)
   PUBMED   34311462
  REMARK    GeneRIF: RAP1GAP Functions as a Tumor Suppressor Gene and Is
            Regulated by DNA Methylation in Differentiated Thyroid Cancer.
REFERENCE   5  (residues 1 to 724)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (residues 1 to 724)
  AUTHORS   Kurachi H, Wada Y, Tsukamoto N, Maeda M, Kubota H, Hattori M, Iwai
            K and Minato N.
  TITLE     Human SPA-1 gene product selectively expressed in lymphoid tissues
            is a specific GTPase-activating protein for Rap1 and Rap2.
            Segregate expression profiles from a rap1GAP gene product
  JOURNAL   J Biol Chem 272 (44), 28081-28088 (1997)
   PUBMED   9346962
REFERENCE   7  (residues 1 to 724)
  AUTHORS   Peterson SN, Trabalzini L, Brtva TR, Fischer T, Altschuler DL,
            Martelli P, Lapetina EG, Der CJ and White GC 2nd.
  TITLE     Identification of a novel RalGDS-related protein as a candidate
            effector for Ras and Rap1
  JOURNAL   J Biol Chem 271 (47), 29903-29908 (1996)
   PUBMED   8939933
REFERENCE   8  (residues 1 to 724)
  AUTHORS   Weiss J, Rubinfeld B, Polakis PG, McCormick F, Cavenee WK and Arden
            KC.
  TITLE     The RAP1GA1 locus for human Rap1-GTPase activating protein 1 maps
            to chromosome 1p36.1-->p35
  JOURNAL   Cytogenet Cell Genet 66 (1), 18-21 (1994)
   PUBMED   8275700
REFERENCE   9  (residues 1 to 724)
  AUTHORS   Rubinfeld B, Crosier WJ, Albert I, Conroy L, Clark R, McCormick F
            and Polakis P.
  TITLE     Localization of the rap1GAP catalytic domain and sites of
            phosphorylation by mutational analysis
  JOURNAL   Mol Cell Biol 12 (10), 4634-4642 (1992)
   PUBMED   1406653
REFERENCE   10 (residues 1 to 724)
  AUTHORS   Rubinfeld B, Munemitsu S, Clark R, Conroy L, Watt K, Crosier WJ,
            McCormick F and Polakis P.
  TITLE     Molecular cloning of a GTPase activating protein specific for the
            Krev-1 protein p21rap1
  JOURNAL   Cell 65 (6), 1033-1042 (1991)
   PUBMED   1904317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359815.26.
            
            Summary: This gene encodes a type of GTPase-activating-protein
            (GAP) that down-regulates the activity of the ras-related RAP1
            protein. RAP1 acts as a molecular switch by cycling between an
            inactive GDP-bound form and an active GTP-bound form. The product
            of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and
            hence returns RAP1 to the inactive state whereas other proteins,
            guanine nucleotide exchange factors (GEFs), act as RAP1 activators
            by facilitating the conversion of RAP1 from the GDP- to the
            GTP-bound form. In general, ras subfamily proteins, such as RAP1,
            play key roles in receptor-linked signaling pathways that control
            cell growth and differentiation. RAP1 plays a role in diverse
            processes such as cell proliferation, adhesion, differentiation,
            and embryogenesis. Alternative splicing results in multiple
            transcript variants encoding distinct proteins. [provided by
            RefSeq, Aug 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..724
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     Protein         1..724
                     /product="rap1 GTPase-activating protein 1 isoform 19"
                     /note="rap1 GTPase-activating protein 1"
                     /calculated_mol_wt=78991
     Region          <1..17
                     /region_name="GoLoco"
                     /note="GoLoco motif; pfam02188"
                     /db_xref="CDD:426645"
     Region          211..366
                     /region_name="Rap_GAP"
                     /note="Rap/ran-GAP; pfam02145"
                     /db_xref="CDD:426620"
     CDS             1..724
                     /gene="RAP1GAP"
                     /gene_synonym="RAP1GA1; RAP1GAP1; RAP1GAPII; RAPGAP"
                     /coded_by="NM_001388215.1:253..2427"
                     /note="isoform 19 is encoded by transcript variant 26"
                     /db_xref="GeneID:5909"
                     /db_xref="HGNC:HGNC:9858"
                     /db_xref="MIM:600278"
ORIGIN      
        1 miekmqgsrm deqrcsfppp lkteedyipy psvhevlgre gpfplillpq fggywiegtn
       61 heitsipete plqspttkvk lecnptariy rkhflgkehf nyysldaalg hlvfslkydv
      121 igdqehlrll lrtkcrtyhd vipiscltef pnvvqmaklv cedvnvdrfy pvlypkasrl
      181 ivtfdehvis nnfkfgviyq klgqtseeel fstneespaf vefleflgqk vklqdfkgfr
      241 ggldvthgqt gtesvycnfr nkeimfhvst klpytegdaq qlqrkrhign divavvfqde
      301 ntpfvpdmia snflhayvvv qaegggpdgp lykgpefqef lltklinaey acykaekfak
      361 leertraall etlyeelhih sqsmmglggd edkmengsgg ggffesfkrv irsrsqsmda
      421 mglsnkkpnt vstshsgsfa pnnpdlakaa gisllipgks asrfgrrgsa igigtveevv
      481 vrgaagsggc lhalfsarsq dgghigdvap lppgqapgra gwsggssdgt qhllwglsli
      541 vpgksptrkk sgpfgsrrss aigieniqev qekresppag qktpdsghvs qepksensst
      601 qsspempttk nraetaaqra ealkdfsrss ssassfasvv eetegvdged tglesvsssg
      661 tphkrdsfiy stwledsvst tsggsspgps rsphpdagkl gdpacpeiki qleaseqhmp
      721 qlgc
//
LOCUS       NP_001374919            1125 aa            linear   PRI 31-DEC-2022
DEFINITION  large proline-rich protein BAG6 isoform 10 [Homo sapiens].
ACCESSION   NP_001374919
VERSION     NP_001374919.1
DBSOURCE    REFSEQ: accession NM_001387990.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1125)
  AUTHORS   Roboti P, Lawless C and High S.
  TITLE     Mitochondrial antiviral-signalling protein is a client of the BAG6
            protein quality control complex
  JOURNAL   J Cell Sci 135 (9) (2022)
   PUBMED   35543156
  REMARK    GeneRIF: Mitochondrial antiviral-signalling protein is a client of
            the BAG6 protein quality control complex.
REFERENCE   2  (residues 1 to 1125)
  AUTHORS   Koike K, Masuda T, Sato K, Fujii A, Wakiyama H, Tobo T, Takahashi
            J, Motomura Y, Nakano T, Saito H, Matsumoto Y, Otsu H, Takeishi K,
            Yonemura Y, Mimori K and Nakagawa T.
  TITLE     GET4 is a novel driver gene in colorectal cancer that regulates the
            localization of BAG6, a nucleocytoplasmic shuttling protein
  JOURNAL   Cancer Sci 113 (1), 156-169 (2022)
   PUBMED   34704338
  REMARK    GeneRIF: GET4 is a novel driver gene in colorectal cancer that
            regulates the localization of BAG6, a nucleocytoplasmic shuttling
            protein.
REFERENCE   3  (residues 1 to 1125)
  AUTHORS   Ponath V, Hoffmann N, Bergmann L, Mader C, Alashkar Alhamwe B,
            Preusser C and Pogge von Strandmann E.
  TITLE     Secreted Ligands of the NK Cell Receptor NKp30: B7-H6 Is in
            Contrast to BAG6 Only Marginally Released via Extracellular
            Vesicles
  JOURNAL   Int J Mol Sci 22 (4), 2189 (2021)
   PUBMED   33671836
  REMARK    GeneRIF: Secreted Ligands of the NK Cell Receptor NKp30: B7-H6 Is
            in Contrast to BAG6 Only Marginally Released via Extracellular
            Vesicles.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1125)
  AUTHORS   Yuan X, Guo M, Li Y, Han Y and Li P.
  TITLE     Association Between eNOS, MMP-9, BAG-6 Gene Polymorphisms and Risk
            of Hypertensive Disorders of Pregnancy in the Northern Chinese
            Population
  JOURNAL   DNA Cell Biol 40 (2), 393-404 (2021)
   PUBMED   33539267
  REMARK    GeneRIF: Association Between eNOS, MMP-9, BAG-6 Gene Polymorphisms
            and Risk of Hypertensive Disorders of Pregnancy in the Northern
            Chinese Population.
REFERENCE   5  (residues 1 to 1125)
  AUTHORS   Ragimbeau R, El Kebriti L, Sebti S, Fourgous E, Boulahtouf A, Arena
            G, Espert L, Turtoi A, Gongora C, Houede N and Pattingre S.
  TITLE     BAG6 promotes PINK1 signaling pathway and is essential for
            mitophagy
  JOURNAL   FASEB J 35 (2), e21361 (2021)
   PUBMED   33522017
  REMARK    GeneRIF: BAG6 promotes PINK1 signaling pathway and is essential for
            mitophagy.
REFERENCE   6  (residues 1 to 1125)
  AUTHORS   Ozaki T, Hanaoka E, Naka M, Nakagawara A and Sakiyama S.
  TITLE     Cloning and characterization of rat BAT3 cDNA
  JOURNAL   DNA Cell Biol 18 (6), 503-512 (1999)
   PUBMED   10390159
REFERENCE   7  (residues 1 to 1125)
  AUTHORS   Cross SJ, Tonks S, Trowsdale J and Campbell RD.
  TITLE     Novel detection of restriction fragment length polymorphisms in the
            human major histocompatibility complex
  JOURNAL   Immunogenetics 34 (6), 376-384 (1991)
   PUBMED   1684176
REFERENCE   8  (residues 1 to 1125)
  AUTHORS   Banerji J, Sands J, Strominger JL and Spies T.
  TITLE     A gene pair from the human major histocompatibility complex encodes
            large proline-rich proteins with multiple repeated motifs and a
            single ubiquitin-like domain
  JOURNAL   Proc Natl Acad Sci U S A 87 (6), 2374-2378 (1990)
   PUBMED   2156268
REFERENCE   9  (residues 1 to 1125)
  AUTHORS   Spies T, Bresnahan M and Strominger JL.
  TITLE     Human major histocompatibility complex contains a minimum of 19
            genes between the complement cluster and HLA-B
  JOURNAL   Proc Natl Acad Sci U S A 86 (22), 8955-8958 (1989)
   PUBMED   2813433
REFERENCE   10 (residues 1 to 1125)
  AUTHORS   Spies T, Blanck G, Bresnahan M, Sands J and Strominger JL.
  TITLE     A new cluster of genes within the human major histocompatibility
            complex
  JOURNAL   Science 243 (4888), 214-217 (1989)
   PUBMED   2911734
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL662801.7.
            
            Summary: This gene was first characterized as part of a cluster of
            genes located within the human major histocompatibility complex
            class III region. This gene encodes a nuclear protein that is
            cleaved by caspase 3 and is implicated in the control of apoptosis.
            In addition, the protein forms a complex with E1A binding protein
            p300 and is required for the acetylation of p53 in response to DNA
            damage. Multiple transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3186288.1,
                                           SRR14038197.2058640.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1125
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     Protein         1..1125
                     /product="large proline-rich protein BAG6 isoform 10"
                     /note="scythe; large proline-rich protein BAT3; large
                     proline-rich protein BAG6; protein G3; HLA-B-associated
                     transcript 3; protein Scythe; BAG family molecular
                     chaperone regulator 6; BCL2 associated athanogene 6"
                     /calculated_mol_wt=118434
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P46379.2)"
     Region          17..87
                     /region_name="Ubl_BAG6"
                     /note="ubiquitin-like (Ubl) domain found in
                     BCL2-associated athanogene 6 (BAG6) and similar proteins;
                     cd01809"
                     /db_xref="CDD:340507"
     Site            order(22..25,58,60,62..65,83..87)
                     /site_type="other"
                     /note="ZF interaction site [polypeptide binding]"
                     /db_xref="CDD:340507"
     Region          87..126
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P46379.2)"
     Site            96
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P46379.2)"
     Site            113
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17924679,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P46379.2)"
     Site            117
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P46379.2)"
     Region          270..386
                     /region_name="DUF3538"
                     /note="Domain of unknown function (DUF3538); pfam12057"
                     /db_xref="CDD:432295"
     Site            344
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P46379.2)"
     Region          379..435
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P46379.2)"
     Region          553..596
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P46379.2)"
     Region          644..685
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P46379.2)"
     Site            825
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P46379.2)"
     Region          <898..1089
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     Region          940..1125
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P46379.2)"
     Site            957
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46379.2)"
     Site            966
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46379.2)"
     Site            994..995
                     /site_type="cleavage"
                     /note="Cleavage, by CASP3.
                     /evidence=ECO:0000269|PubMed:14960581; propagated from
                     UniProtKB/Swiss-Prot (P46379.2)"
     Region          1003..1033
                     /region_name="Required for interaction with GET4.
                     /evidence=ECO:0000269|PubMed:25535373,
                     ECO:0000269|PubMed:29042515"
                     /note="propagated from UniProtKB/Swiss-Prot (P46379.2)"
     Region          1005..1047
                     /region_name="Nuclear localization site.
                     /evidence=ECO:0000305|PubMed:25535373,
                     ECO:0000305|PubMed:29042515"
                     /note="propagated from UniProtKB/Swiss-Prot (P46379.2)"
     Region          1015..1125
                     /region_name="Sufficient for the delivery of client
                     proteins to the endoplasmic reticulum.
                     /evidence=ECO:0000269|PubMed:28104892"
                     /note="propagated from UniProtKB/Swiss-Prot (P46379.2)"
     Site            1046
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46379.2)"
     Region          1051..1108
                     /region_name="BAG-similar domain, required and sufficient
                     for interaction with UBL4A.
                     /evidence=ECO:0000269|PubMed:25535373,
                     ECO:0000269|PubMed:25713138"
                     /note="propagated from UniProtKB/Swiss-Prot (P46379.2)"
     Site            1074
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46379.2)"
     Site            1110
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46379.2)"
     CDS             1..1125
                     /gene="BAG6"
                     /gene_synonym="BAG-6; BAT3; D6S52E; G3"
                     /coded_by="NM_001387990.1:276..3653"
                     /note="isoform 10 is encoded by transcript variant 30"
                     /db_xref="GeneID:7917"
                     /db_xref="HGNC:HGNC:13919"
                     /db_xref="MIM:142590"
ORIGIN      
        1 mepndststa veepdslevl vktldsqtrt fivgaqmnvk efkehiaasv sipsekqrli
       61 yqgrvlqddk klqeynvggk vihlverapp qthlpsgass gtgsasathg ggsppgtrgp
      121 gasvhdrnan syvmvgtfnl psdgsavdvh inmeqapiqs eprvrlvmaq hmirdiqtll
      181 srmecrggpq pqhsqpppqp pavtpepval ssqtsepves eapprepmea eeveerapaq
      241 npeltpgpap agptpapetn apnhpspaey vevlqelqrl esrlqpflqr yyevlgaaat
      301 tdynnnhegr eedqrlinlv geslrllgnt fvalsdlrcn lactpprhlh vvrpmshytt
      361 pmvlqqaaip iqinvgttvt mtgngtrppp tpnaeapppg pgqassvaps stnvessaeg
      421 apppgpappp atshprviri shqsvepvvm mhmniqdsgt qpggvpsapt gplgppghgq
      481 tlgqqvpgfp taptrvviar ptppqarpsh pggppvsgtl gaglgtnasl aqmvsglvgq
      541 llmqpvlvaq gtpgmapppa patasasagt tntattagpa pggpaqpppt pqpsmadlqf
      601 sqllgnllgp agpgaggsgv asptitvamp gvpaflqgmt dflqatqtap pppppppppp
      661 papeqqtmpp pgspsggags pgglglesls pefftsvvqg vlssllgslg aragssesia
      721 afiqrlsgss nifepgadga lgffgallsl lcqnfsmvdv vmllhghfqp lqrlqpqlrs
      781 ffhqhylggq eptpsnirma thtlitglee yvresfslvq vqpgvdiirt nleflqeqfn
      841 siaahvlhct dsgfgarlle lcnqglfecl alnlhclggq qmelaaving rirrmsrgvn
      901 pslvswlttm mglrlqvvle hmpvgpdail ryvrrvgdpp qplpeepmev qgaeraspep
      961 qrenaspapg ttaeeamsrg pppapeggsr deqdgasaet epwaaavppe wvpiiqqdiq
     1021 sqrkvkpqpp lsdaylsgmp akrrktmqge gpqlllseav sraakaagar pltspeslsr
     1081 dleapevqes yrqqlrsdiq krlqedpnys pqrfpnaqra faddp
//
LOCUS       NP_001381111             216 aa            linear   PRI 31-DEC-2022
DEFINITION  KRAB domain-containing protein 5 isoform 11 [Homo sapiens].
ACCESSION   NP_001381111
VERSION     NP_001381111.1
DBSOURCE    REFSEQ: accession NM_001394182.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 216)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 216)
  AUTHORS   Nowick K and Stubbs L.
  TITLE     Lineage-specific transcription factors and the evolution of gene
            regulatory networks
  JOURNAL   Brief Funct Genomics 9 (1), 65-78 (2010)
   PUBMED   20081217
  REMARK    Review article
REFERENCE   3  (residues 1 to 216)
  AUTHORS   Hamilton AT, Huntley S, Tran-Gyamfi M, Baggott DM, Gordon L and
            Stubbs L.
  TITLE     Evolutionary expansion and divergence in the ZNF91 subfamily of
            primate-specific zinc finger genes
  JOURNAL   Genome Res 16 (5), 584-594 (2006)
   PUBMED   16606703
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC074050.3 and AC002519.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA2146236 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..216
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     Protein         1..216
                     /product="KRAB domain-containing protein 5 isoform 11"
                     /note="putative protein ZNF720; zinc finger protein 720;
                     KRAB domain-containing protein 5"
                     /calculated_mol_wt=24604
     Region          3..44
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     CDS             1..216
                     /gene="KRBOX5"
                     /gene_synonym="ZNF720"
                     /coded_by="NM_001394182.1:190..840"
                     /note="isoform 11 is encoded by transcript variant 10"
                     /db_xref="GeneID:124411"
                     /db_xref="HGNC:HGNC:26987"
ORIGIN      
        1 mglltfrdva iefsreeweh ldsdqkllyg dvmlenygnl vsldifshdt qgllrkklie
       61 asfqkvildg ygscgpqnln lrkewesegk ceghngyydg htkcktttyn knltvtggqk
      121 hektqfmsva fskpcvsvsk cqhqflkltf sfkgnldnpn sdlvhvsnnh lnqlkyrtgv
      181 nvqsniseke rfkneevisk ydqfdgsllk vcftnk
//
LOCUS       NP_001397857             449 aa            linear   PRI 01-JAN-2023
DEFINITION  telomeric repeat-binding factor 1 isoform 3 [Homo sapiens].
ACCESSION   NP_001397857 XP_005251349
VERSION     NP_001397857.1
DBSOURCE    REFSEQ: accession NM_001410928.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 449)
  AUTHORS   Abreu PL, Lee YW and Azzalin CM.
  TITLE     In Vitro Characterization of the Physical Interactions between the
            Long Noncoding RNA TERRA and the Telomeric Proteins TRF1 and TRF2
  JOURNAL   Int J Mol Sci 23 (18), 10463 (2022)
   PUBMED   36142374
  REMARK    GeneRIF: In Vitro Characterization of the Physical Interactions
            between the Long Noncoding RNA TERRA and the Telomeric Proteins
            TRF1 and TRF2.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 449)
  AUTHORS   Jack A, Kim Y, Strom AR, Lee DSW, Williams B, Schaub JM, Kellogg
            EH, Finkelstein IJ, Ferro LS, Yildiz A and Brangwynne CP.
  TITLE     Compartmentalization of telomeres through DNA-scaffolded phase
            separation
  JOURNAL   Dev Cell 57 (2), 277-290 (2022)
   PUBMED   35077681
  REMARK    GeneRIF: Compartmentalization of telomeres through DNA-scaffolded
            phase separation.
REFERENCE   3  (residues 1 to 449)
  AUTHORS   Dos Santos GA, Viana NI, Pimenta R, Guimaraes VR, de Camargo JA,
            Romao P, Reis ST, Leite KRM and Srougi M.
  TITLE     Prognostic value of TERF1 expression in prostate cancer
  JOURNAL   J Egypt Natl Canc Inst 33 (1), 24 (2021)
   PUBMED   34486082
  REMARK    GeneRIF: Prognostic value of TERF1 expression in prostate cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 449)
  AUTHORS   Pan H, Kaur P, Barnes R, Detwiler AC, Sanford SL, Liu M, Xu P, Mahn
            C, Tang Q, Hao P, Bhattaram D, You C, Gu X, Lu W, Piehler J, Xu G,
            Weninger K, Riehn R, Opresko PL and Wang H.
  TITLE     Structure, dynamics, and regulation of TRF1-TIN2-mediated trans-
            and cis-interactions on telomeric DNA
  JOURNAL   J Biol Chem 297 (3), 101080 (2021)
   PUBMED   34403696
  REMARK    GeneRIF: Structure, dynamics, and regulation of TRF1-TIN2-mediated
            trans- and cis-interactions on telomeric DNA.
REFERENCE   5  (residues 1 to 449)
  AUTHORS   Chang X, Gurung RL, Wang L, Jin A, Li Z, Wang R, Beckman KB,
            Adams-Haduch J, Meah WY, Sim KS, Lim WK, Davila S, Tan P, Teo JX,
            Yeo KK, M Y, Liu S, Lim SC, Liu J, van Dam RM, Friedlander Y, Koh
            WP, Yuan JM, Khor CC, Heng CK and Dorajoo R.
  TITLE     Low frequency variants associated with leukocyte telomere length in
            the Singapore Chinese population
  JOURNAL   Commun Biol 4 (1), 519 (2021)
   PUBMED   33941849
  REMARK    GeneRIF: Low frequency variants associated with leukocyte telomere
            length in the Singapore Chinese population.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 449)
  AUTHORS   Broccoli D, Chong L, Oelmann S, Fernald AA, Marziliano N, van
            Steensel B, Kipling D, Le Beau MM and de Lange T.
  TITLE     Comparison of the human and mouse genes encoding the telomeric
            protein, TRF1: chromosomal localization, expression and conserved
            protein domains
  JOURNAL   Hum Mol Genet 6 (1), 69-76 (1997)
   PUBMED   9002672
REFERENCE   7  (residues 1 to 449)
  AUTHORS   Lu KP, Hanes SD and Hunter T.
  TITLE     A human peptidyl-prolyl isomerase essential for regulation of
            mitosis
  JOURNAL   Nature 380 (6574), 544-547 (1996)
   PUBMED   8606777
REFERENCE   8  (residues 1 to 449)
  AUTHORS   Bilaud T, Koering CE, Binet-Brasselet E, Ancelin K, Pollice A,
            Gasser SM and Gilson E.
  TITLE     The telobox, a Myb-related telomeric DNA binding motif found in
            proteins from yeast, plants and human
  JOURNAL   Nucleic Acids Res 24 (7), 1294-1303 (1996)
   PUBMED   8614633
REFERENCE   9  (residues 1 to 449)
  AUTHORS   Chong L, van Steensel B, Broccoli D, Erdjument-Bromage H, Hanish J,
            Tempst P and de Lange T.
  TITLE     A human telomeric protein
  JOURNAL   Science 270 (5242), 1663-1667 (1995)
   PUBMED   7502076
REFERENCE   10 (residues 1 to 449)
  AUTHORS   Zhong Z, Shiue L, Kaplan S and de Lange T.
  TITLE     A mammalian factor that binds telomeric TTAGGG repeats in vitro
  JOURNAL   Mol Cell Biol 12 (11), 4834-4843 (1992)
   PUBMED   1406665
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022893.6.
            On Aug 18, 2022 this sequence version replaced XP_005251349.1.
            
            Summary: This gene encodes a telomere specific protein which is a
            component of the telomere nucleoprotein complex. This protein is
            present at telomeres throughout the cell cycle and functions as an
            inhibitor of telomerase, acting in cis to limit the elongation of
            individual chromosome ends. The protein structure contains a
            C-terminal Myb motif, a dimerization domain near its N-terminus and
            an acidic N-terminus. Multiple transcripts of this gene are
            alternatively spliced products. [provided by RefSeq, Aug 2022].
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (3).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.74651.1,
                                           SRR18074967.1841595.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.11"
     Protein         1..449
                     /product="telomeric repeat-binding factor 1 isoform 3"
                     /note="NIMA-interacting protein 2; telomeric protein
                     Pin2/TRF1; TTAGGG repeat-binding factor 1; telomeric
                     repeat binding factor (NIMA-interacting) 1"
                     /calculated_mol_wt=51687
     Region          76..264
                     /region_name="TRFH"
                     /note="Telomeric Repeat binding Factor or TTAGGG Repeat
                     binding Factor, central (dimerization) domain Homology;
                     TRFH. Telomeres are protein/DNA complexes that make up the
                     physical ends of eukaryotic linear chromosomes and are
                     essential for chromosome stability; cd00280"
                     /db_xref="CDD:238174"
     Site            order(106,109,123,127,131,141..145,153,156..157,160)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:238174"
     Region          391..439
                     /region_name="SANT_TRF"
                     /note="Telomere repeat binding factor-like DNA-binding
                     domains of the SANT/myb-like family; cd11660"
                     /db_xref="CDD:212558"
     Site            order(391..393,411,413..414,425,427..429,431..433,
                     435..436)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:212558"
     CDS             1..449
                     /gene="TERF1"
                     /gene_synonym="hTRF1-AS; PIN2; t-TRF1; TRBF1; TRF; TRF1"
                     /coded_by="NM_001410928.1:24..1373"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS94314.1"
                     /db_xref="GeneID:7013"
                     /db_xref="HGNC:HGNC:11728"
                     /db_xref="MIM:600951"
ORIGIN      
        1 maedvssaap sprgcadgrd adpteeqmae terndeeqfe cqellecqvq vgapeeeeee
       61 eedaglvaea eavaagwmld flclslcraf rdgrsedfrr trnsaeaiih glssltacql
      121 rtiyicqflt riaagktlda qfenderitp lesalmiwgs iekehdklhe eiqnlikiqa
      181 iavcmengnf keaeevferi fgdpnshmpf kskllmiisq kdtfhsffqh fsynhmmeki
      241 ksyvnyvlse ksstflmkaa akvveskrtr titsqdkpsg ndvemetean ldtrkrshkn
      301 lflsklqhgt qqqdlnkker rvgtpqityi cltkltmnkk egvrkglcfl vllkhyrtkk
      361 kkesrrates ripvsksqpv tpekhrarkr qawlweedkn lrsgvrkyge gnwskillhy
      421 kfnnrtsvml kdrwrtmkkl klissdsed
//
LOCUS       NP_001027018             242 aa            linear   PRI 22-JAN-2023
DEFINITION  serpin B8 isoform b [Homo sapiens].
ACCESSION   NP_001027018
VERSION     NP_001027018.1
DBSOURCE    REFSEQ: accession NM_001031848.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 242)
  AUTHORS   Ni L, Li P, Li M, Huang S and Dang N.
  TITLE     SERPINB8 and furin regulate ITGAX expression and affect the
            proliferation and invasion of melanoma cells
  JOURNAL   Exp Dermatol 32 (1), 24-29 (2023)
   PUBMED   36134483
  REMARK    GeneRIF: SERPINB8 and furin regulate ITGAX expression and affect
            the proliferation and invasion of melanoma cells.
REFERENCE   2  (residues 1 to 242)
  AUTHORS   Glavey SV, Naba A, Manier S, Clauser K, Tahri S, Park J, Reagan MR,
            Moschetta M, Mishima Y, Gambella M, Rocci A, Sacco A, O'Dwyer ME,
            Asara JM, Palumbo A, Roccaro AM, Hynes RO and Ghobrial IM.
  TITLE     Proteomic characterization of human multiple myeloma bone marrow
            extracellular matrix
  JOURNAL   Leukemia 31 (11), 2426-2434 (2017)
   PUBMED   28344315
REFERENCE   3  (residues 1 to 242)
  AUTHORS   Pigors M, Sarig O, Heinz L, Plagnol V, Fischer J, Mohamad J,
            Malchin N, Rajpopat S, Kharfi M, Lestringant GG, Sprecher E,
            Kelsell DP and Blaydon DC.
  TITLE     Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative
            Ichthyosis with Impaired Mechanical Stability of Intercellular
            Adhesions
  JOURNAL   Am J Hum Genet 99 (2), 430-436 (2016)
   PUBMED   27476651
  REMARK    GeneRIF: report of mutations in SERPINB8 that are associated with
            exfoliative ichthyosis and provide evidence that SERPINB8
            contributes to the mechanical stability of intercellular adhesions
            in the epidermis
REFERENCE   4  (residues 1 to 242)
  AUTHORS   Heit C, Jackson BC, McAndrews M, Wright MW, Thompson DC, Silverman
            GA, Nebert DW and Vasiliou V.
  TITLE     Update of the human and mouse SERPIN gene superfamily
  JOURNAL   Hum Genomics 7 (1), 22 (2013)
   PUBMED   24172014
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 242)
  AUTHORS   Wilk JB, Shrine NR, Loehr LR, Zhao JH, Manichaikul A, Lopez LM,
            Smith AV, Heckbert SR, Smolonska J, Tang W, Loth DW, Curjuric I,
            Hui J, Cho MH, Latourelle JC, Henry AP, Aldrich M, Bakke P, Beaty
            TH, Bentley AR, Borecki IB, Brusselle GG, Burkart KM, Chen TH,
            Couper D, Crapo JD, Davies G, Dupuis J, Franceschini N, Gulsvik A,
            Hancock DB, Harris TB, Hofman A, Imboden M, James AL, Khaw KT,
            Lahousse L, Launer LJ, Litonjua A, Liu Y, Lohman KK, Lomas DA,
            Lumley T, Marciante KD, McArdle WL, Meibohm B, Morrison AC, Musk
            AW, Myers RH, North KE, Postma DS, Psaty BM, Rich SS, Rivadeneira
            F, Rochat T, Rotter JI, Soler Artigas M, Starr JM, Uitterlinden AG,
            Wareham NJ, Wijmenga C, Zanen P, Province MA, Silverman EK, Deary
            IJ, Palmer LJ, Cassano PA, Gudnason V, Barr RG, Loos RJ, Strachan
            DP, London SJ, Boezen HM, Probst-Hensch N, Gharib SA, Hall IP,
            O'Connor GT, Tobin MD and Stricker BH.
  TITLE     Genome-wide association studies identify CHRNA5/3 and HTR4 in the
            development of airflow obstruction
  JOURNAL   Am J Respir Crit Care Med 186 (7), 622-632 (2012)
   PUBMED   22837378
REFERENCE   6  (residues 1 to 242)
  AUTHORS   Dahlen JR, Foster DC and Kisiel W.
  TITLE     Expression, purification, and inhibitory properties of human
            proteinase inhibitor
  JOURNAL   Biochemistry 36 (48), 14874-14882 (1997)
   PUBMED   9402754
REFERENCE   7  (residues 1 to 242)
  AUTHORS   Bartuski AJ, Kamachi Y, Schick C, Overhauser J and Silverman GA.
  TITLE     Cytoplasmic antiproteinase 2 (PI8) and bomapin (PI10) map to the
            serpin cluster at 18q21.3
  JOURNAL   Genomics 43 (3), 321-328 (1997)
   PUBMED   9268635
REFERENCE   8  (residues 1 to 242)
  AUTHORS   Hubberstey A, Yu G, Loewith R, Lakusta C and Young D.
  TITLE     Mammalian CAP interacts with CAP, CAP2, and actin
  JOURNAL   J Cell Biochem 61 (3), 459-466 (1996)
   PUBMED   8761950
REFERENCE   9  (residues 1 to 242)
  AUTHORS   Sprecher CA, Morgenstern KA, Mathewes S, Dahlen JR, Schrader SK,
            Foster DC and Kisiel W.
  TITLE     Molecular cloning, expression, and partial characterization of two
            novel members of the ovalbumin family of serine proteinase
            inhibitors
  JOURNAL   J Biol Chem 270 (50), 29854-29861 (1995)
   PUBMED   8530382
REFERENCE   10 (residues 1 to 242)
  AUTHORS   Huber R and Carrell RW.
  TITLE     Implications of the three-dimensional structure of alpha
            1-antitrypsin for structure and function of serpins
  JOURNAL   Biochemistry 28 (23), 8951-8966 (1989)
   PUBMED   2690952
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX280409.1, BC034528.1 and
            U92984.1.
            
            Summary: The protein encoded by this gene is a member of the
            ov-serpin family of serine protease inhibitors. The encoded protein
            is produced by platelets and can bind to and inhibit the function
            of furin, a serine protease involved in platelet functions. In
            addition, this protein has been found to enhance the mechanical
            stability of cell-cell adhesion in the skin, and defects in this
            gene have been associated with an autosomal-recessive form of
            exfoliative ichthyosis. [provided by RefSeq, Jan 2017].
            
            Transcript Variant: This variant (3) uses an alternate splice
            junction in the 5' UTR and has an alternate 3'-most exon compared
            to variant 1. The resulting isoform (b) has a shorter and distinct
            C-terminus compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC034528.1, BG742444.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q22.1"
     Protein         1..242
                     /product="serpin B8 isoform b"
                     /note="protease inhibitor 8 (ovalbumin type); serine (or
                     cysteine) proteinase inhibitor, clade B (ovalbumin),
                     member 8; cytoplasmic antiproteinase 2; serpin B8;
                     peptidase inhibitor 8; serpin peptidase inhibitor, clade B
                     (ovalbumin), member 8"
                     /calculated_mol_wt=27541
     Region          1..>242
                     /region_name="serpin"
                     /note="SERine Proteinase INhibitors (serpin) family;
                     cl38926"
                     /db_xref="CDD:453891"
     CDS             1..242
                     /gene="SERPINB8"
                     /gene_synonym="C18orf53; CAP2; PI-8; PI8; PSS5"
                     /coded_by="NM_001031848.2:101..829"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS42442.1"
                     /db_xref="GeneID:5271"
                     /db_xref="HGNC:HGNC:8952"
                     /db_xref="MIM:601697"
ORIGIN      
        1 mddlceangt faislfkilg eednsrnvff spmsissala mvfmgakgst aaqmsqalcl
       61 ykdgdihrgf qsllsevnrt gtqyllrtan rlfgektcdf lpdfkeycqk fyqaeleels
      121 faedteecrk hindwvaekt egkisevlda gtvdpltklv lvnaiyfkgk wneqfdrkyt
      181 rgmlfktnee kktvqmmfke akfkmgyade vhtqvlelpy veeelsmvil lpddntdlav
      241 ke
//
LOCUS       NP_001540                490 aa            linear   PRI 22-JAN-2023
DEFINITION  interferon-induced protein with tetratricopeptide repeats 3 isoform
            a [Homo sapiens].
ACCESSION   NP_001540
VERSION     NP_001540.2
DBSOURCE    REFSEQ: accession NM_001549.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 490)
  AUTHORS   Xu S, Huang J, Xun Z, Li S, Fu Y, Lin N, Wu W, Chen T, Liu C and Ou
            Q.
  TITLE     IFIT3 Is Increased in Serum from Patients with Chronic Hepatitis B
            Virus (HBV) Infection and Promotes the Anti-HBV Effect of
            Interferon Alpha via JAK-STAT2 In Vitro
  JOURNAL   Microbiol Spectr 10 (6), e0155722 (2022)
   PUBMED   36314949
  REMARK    GeneRIF: IFIT3 Is Increased in Serum from Patients with Chronic
            Hepatitis B Virus (HBV) Infection and Promotes the Anti-HBV Effect
            of Interferon Alpha via JAK-STAT2 In Vitro.
REFERENCE   2  (residues 1 to 490)
  AUTHORS   Yang BF, Zhai F, Yu S, An HJ, Cao ZH, Liu YH, Wang R and Cheng XX.
  TITLE     Evaluation of IFIT3 and ORM1 as Biomarkers for Discriminating
            Active Tuberculosis from Latent Infection
  JOURNAL   Curr Med Sci 42 (6), 1201-1212 (2022)
   PUBMED   36462134
  REMARK    GeneRIF: Evaluation of IFIT3 and ORM1 as Biomarkers for
            Discriminating Active Tuberculosis from Latent Infection.
REFERENCE   3  (residues 1 to 490)
  AUTHORS   Chikhalya A, Dittmann M, Zheng Y, Sohn SY, Rice CM and Hearing P.
  TITLE     Human IFIT3 Protein Induces Interferon Signaling and Inhibits
            Adenovirus Immediate Early Gene Expression
  JOURNAL   mBio 12 (6), e0282921 (2021)
   PUBMED   34724821
  REMARK    GeneRIF: Human IFIT3 Protein Induces Interferon Signaling and
            Inhibits Adenovirus Immediate Early Gene Expression.
REFERENCE   4  (residues 1 to 490)
  AUTHORS   Chen C, Tian J, He Z, Xiong W, He Y and Liu S.
  TITLE     Identified Three Interferon Induced Proteins as Novel Biomarkers of
            Human Ischemic Cardiomyopathy
  JOURNAL   Int J Mol Sci 22 (23), 13116 (2021)
   PUBMED   34884921
  REMARK    GeneRIF: Identified Three Interferon Induced Proteins as Novel
            Biomarkers of Human Ischemic Cardiomyopathy.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 490)
  AUTHORS   Jiang Y, Zhang C, Zhang J, Han D and Shi X.
  TITLE     Comprehensive analysis of the prognosis and biological significance
            for IFIT family in skin cutaneous melanoma
  JOURNAL   Int Immunopharmacol 101 (Pt A), 108344 (2021)
   PUBMED   34763233
  REMARK    GeneRIF: Comprehensive analysis of the prognosis and biological
            significance for IFIT family in skin cutaneous melanoma.
REFERENCE   6  (residues 1 to 490)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   7  (residues 1 to 490)
  AUTHORS   Izmailova E, Bertley FM, Huang Q, Makori N, Miller CJ, Young RA and
            Aldovini A.
  TITLE     HIV-1 Tat reprograms immature dendritic cells to express
            chemoattractants for activated T cells and macrophages
  JOURNAL   Nat Med 9 (2), 191-197 (2003)
   PUBMED   12539042
REFERENCE   8  (residues 1 to 490)
  AUTHORS   de Veer MJ, Sim H, Whisstock JC, Devenish RJ and Ralph SJ.
  TITLE     IFI60/ISG60/IFIT4, a new member of the human IFI54/IFIT2 family of
            interferon-stimulated genes
  JOURNAL   Genomics 54 (2), 267-277 (1998)
   PUBMED   9828129
REFERENCE   9  (residues 1 to 490)
  AUTHORS   Zhu H, Cong JP and Shenk T.
  TITLE     Use of differential display analysis to assess the effect of human
            cytomegalovirus infection on the accumulation of cellular RNAs:
            induction of interferon-responsive RNAs
  JOURNAL   Proc Natl Acad Sci U S A 94 (25), 13985-13990 (1997)
   PUBMED   9391139
REFERENCE   10 (residues 1 to 490)
  AUTHORS   Yu M, Tong JH, Mao M, Kan LX, Liu MM, Sun YW, Fu G, Jing YK, Yu L,
            Lepaslier D, Lanotte M, Wang ZY, Chen Z, Waxman S, Wang YX, Tan JZ
            and Chen SJ.
  TITLE     Cloning of a gene (RIG-G) associated with retinoic acid-induced
            differentiation of acute promyelocytic leukemia cells and
            representing a new member of a family of interferon-stimulated
            genes
  JOURNAL   Proc Natl Acad Sci U S A 94 (14), 7406-7411 (1997)
   PUBMED   9207104
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK290427.1, AL353751.13 and BM790031.1.
            On Jun 9, 2003 this sequence version replaced NP_001540.1.
            
            Transcript Variant: This variant (1) encodes isoform a. Variants 1
            and 2 both encode isoform a, using different start codons but
            encoding identical proteins.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.227443.1,
                                           SRR1660809.103323.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371818.9/ ENSP00000360883.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..490
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.31"
     Protein         1..490
                     /product="interferon-induced protein with
                     tetratricopeptide repeats 3 isoform a"
                     /note="interferon-induced protein with tetratricopeptide
                     repeats 4; interferon-induced 60 kDa protein; CIG49;
                     IFIT-3; IFIT-4; ISG-60; IFI-60K; retinoic acid-induced
                     gene G protein"
                     /calculated_mol_wt=55854
     Region          51..84
                     /region_name="TPR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (O14879.1)"
     Region          51..79
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          <55..>326
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     Region          84..123
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          94..127
                     /region_name="TPR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (O14879.1)"
     Region          136..169
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (O14879.1)"
     Region          136..164
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          172..206
                     /region_name="TPR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (O14879.1)"
     Site            order(178..179,181,208,211..212,215..216,218..219,242,
                     245..246,249..250,253)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Site            203
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (O14879.1)"
     Region          206..236
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          207..240
                     /region_name="TPR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (O14879.1)"
     Site            237
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (O14879.1)"
     Region          241..274
                     /region_name="TPR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (O14879.1)"
     Region          241..269
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          415..448
                     /region_name="TPR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (O14879.1)"
     Region          450..481
                     /region_name="TPR 8"
                     /note="propagated from UniProtKB/Swiss-Prot (O14879.1)"
     Region          467..490
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14879.1)"
     Site            478
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O14879.1)"
     CDS             1..490
                     /gene="IFIT3"
                     /gene_synonym="CIG-49; cig41; GARG-49; IFI60; IFIT4; IRG2;
                     ISG60; P60; RIG-G"
                     /coded_by="NM_001549.6:78..1550"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7402.1"
                     /db_xref="GeneID:3437"
                     /db_xref="HGNC:HGNC:5411"
                     /db_xref="MIM:604650"
ORIGIN      
        1 msevtknsle kilpqlkchf twnlfkedsv srdledrvcn qieflntefk atmynllayi
       61 khldgnneaa leclrqaeel iqqehadqae irslvtwgny awvyyhlgrl sdaqiyvdkv
      121 kqtckkfsnp ysieyseldc eegwtqlkcg rnerakvcfe kaleekpnnp efssglaiam
      181 yhldnhpekq fstdvlkqai elspdnqyvk vllglklqkm nkeaegeqfv eealekspcq
      241 tdvlrsaakf yrrkgdldka ielfqrvles tpnngylyhq igccykakvr qmqntgesea
      301 sgnkemieal kqyamdysnk alekglnpln aysdlaefle tecyqtpfnk evpdaekqqs
      361 hqrycnlqky ngksedtavq hgleglsisk kstdkeeikd qpqnvsenll pqnapnywyl
      421 qglihkqngd llqaakcyek elgrllrdap sgigsiflsa seledgseem gqgavssspr
      481 ellsnseqln
//
LOCUS       NP_001025160              65 aa            linear   PRI 07-FEB-2023
DEFINITION  PCNA-associated factor isoform 2 [Homo sapiens].
ACCESSION   NP_001025160
VERSION     NP_001025160.1
DBSOURCE    REFSEQ: accession NM_001029989.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 65)
  AUTHORS   Zhang J and Lv G.
  TITLE     Knockdown of LINC01138 protects human chondrocytes against
            IL-1beta-induced damage by regulating the hsa-miR-1207-5p/KIAA0101
            axis
  JOURNAL   Immun Inflamm Dis 11 (1), e744 (2023)
   PUBMED   36705420
  REMARK    GeneRIF: Knockdown of LINC01138 protects human chondrocytes against
            IL-1beta-induced damage by regulating the hsa-miR-1207-5p/KIAA0101
            axis.
REFERENCE   2  (residues 1 to 65)
  AUTHORS   Chen Y, Qian S, Chen Y, Liu K, Yin W and Luo X.
  TITLE     KIAA0101 and IL2RA Were Identified as Core Genes in
            Hormone-Resistant Nephropathy
  JOURNAL   Dis Markers 2022, 6545266 (2022)
   PUBMED   36164371
  REMARK    GeneRIF: KIAA0101 and IL2RA Were Identified as Core Genes in
            Hormone-Resistant Nephropathy.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 65)
  AUTHORS   Sun Z, Zhang S, Zhang N, Wang J, Wang J and Liu J.
  TITLE     Circ_0005231 promotes the progression of esophageal squamous cell
            carcinoma via sponging miR-383-5p and regulating KIAA0101
  JOURNAL   Thorac Cancer 13 (12), 1751-1762 (2022)
   PUBMED   35524161
  REMARK    GeneRIF: Circ_0005231 promotes the progression of esophageal
            squamous cell carcinoma via sponging miR-383-5p and regulating
            KIAA0101.
REFERENCE   4  (residues 1 to 65)
  AUTHORS   Liu X, Cai Y, Cheng C, Gu Y, Hu X, Chen K, Wu Y and Wu Z.
  TITLE     PCLAF promotes neuroblastoma G1/S cell cycle progression via the
            E2F1/PTTG1 axis
  JOURNAL   Cell Death Dis 13 (2), 178 (2022)
   PUBMED   35210406
  REMARK    GeneRIF: PCLAF promotes neuroblastoma G1/S cell cycle progression
            via the E2F1/PTTG1 axis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 65)
  AUTHORS   Wang K, Li J and Zhou B.
  TITLE     KIAA0101 knockdown inhibits glioma progression and glycolysis by
            inactivating the PI3K/AKT/mTOR pathway
  JOURNAL   Metab Brain Dis 37 (2), 489-499 (2022)
   PUBMED   34792707
  REMARK    GeneRIF: KIAA0101 knockdown inhibits glioma progression and
            glycolysis by inactivating the PI3K/AKT/mTOR pathway.
REFERENCE   6  (residues 1 to 65)
  AUTHORS   Guo M, Li J, Wan D and Gu J.
  TITLE     KIAA0101 (OEACT-1), an expressionally down-regulated and
            growth-inhibitory gene in human hepatocellular carcinoma
  JOURNAL   BMC Cancer 6, 109 (2006)
   PUBMED   16646990
  REMARK    GeneRIF: KIAA0101 protein expression was down-regulated in
            hepatocellular carcinoma; this gene could inhibit the HCC cell
            growth in vitro and presumably by its blocking effect on cell cycle
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 65)
  AUTHORS   Simpson F, Lammerts van Bueren K, Butterfield N, Bennetts JS,
            Bowles J, Adolphe C, Simms LA, Young J, Walsh MD, Leggett B, Fowles
            LF and Wicking C.
  TITLE     The PCNA-associated factor KIAA0101/p15(PAF) binds the potential
            tumor suppressor product p33ING1b
  JOURNAL   Exp Cell Res 312 (1), 73-85 (2006)
   PUBMED   16288740
  REMARK    GeneRIF: The PCNA-associated factor KIAA0101/p15(PAF) binds the
            potential tumor suppressor product p33ING1b.
REFERENCE   8  (residues 1 to 65)
  AUTHORS   Mizutani K, Onda M, Asaka S, Akaishi J, Miyamoto S, Yoshida A,
            Nagahama M, Ito K and Emi M.
  TITLE     Overexpressed in anaplastic thyroid carcinoma-1 (OEATC-1) as a
            novel gene responsible for anaplastic thyroid carcinoma
  JOURNAL   Cancer 103 (9), 1785-1790 (2005)
   PUBMED   15789362
  REMARK    GeneRIF: Overexpression of KIAA0101 is associated with anaplastic
            thyroid carcinoma
REFERENCE   9  (residues 1 to 65)
  AUTHORS   Petroziello J, Yamane A, Westendorf L, Thompson M, McDonagh C,
            Cerveny C, Law CL, Wahl A and Carter P.
  TITLE     Suppression subtractive hybridization and expression profiling
            identifies a unique set of genes overexpressed in non-small-cell
            lung cancer
  JOURNAL   Oncogene 23 (46), 7734-7745 (2004)
   PUBMED   15334068
REFERENCE   10 (residues 1 to 65)
  AUTHORS   Yu P, Huang B, Shen M, Lau C, Chan E, Michel J, Xiong Y, Payan DG
            and Luo Y.
  TITLE     p15(PAF), a novel PCNA associated factor with increased expression
            in tumor tissues
  JOURNAL   Oncogene 20 (4), 484-489 (2001)
   PUBMED   11313979
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AV757440.1, BC005832.2 and AC087632.10.
            
            Transcript Variant: This variant (2) lacks an exon in the central
            coding region, which results in a frameshift, compared to variant
            1. The encoded isoform (2) has a shorter and distinct C-terminus,
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA479443.1, DA606433.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267769 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..65
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.31"
     Protein         1..65
                     /product="PCNA-associated factor isoform 2"
                     /note="overexpressed in anaplastic thyroid carcinoma 1;
                     PCNA-associated factor of 15 kDa; HCV NS5A-transactivated
                     protein 9; hepatitis C virus NS5A-transactivated protein
                     9"
                     /calculated_mol_wt=7090
     Region          1..>27
                     /region_name="PAF"
                     /note="PCNA-associated factor; pfam15715"
                     /db_xref="CDD:434879"
     Site            8
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15004.1)"
     Region          23..34
                     /region_name="D-box"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15004.1)"
     Site            24
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9CQX4; propagated from
                     UniProtKB/Swiss-Prot (Q15004.1)"
     Site            28
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15004.1)"
     Site            31
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:21628590; propagated from
                     UniProtKB/Swiss-Prot (Q15004.1)"
     CDS             1..65
                     /gene="PCLAF"
                     /gene_synonym="KIAA0101; L5; NS5ATP9; OEATC; OEATC-1;
                     OEATC1; p15(PAF); p15/PAF; p15PAF; PAF; PAF15"
                     /coded_by="NM_001029989.3:71..268"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS32269.1"
                     /db_xref="GeneID:9768"
                     /db_xref="HGNC:HGNC:28961"
                     /db_xref="MIM:610696"
ORIGIN      
        1 mvrtkadsvp gtyrkvvaar aprkvlgsst satnstsvss rkehvlcnli tqmmkknrtf
       61 sfife
//
LOCUS       NP_006855                631 aa            linear   PRI 12-FEB-2023
DEFINITION  leukocyte immunoglobulin-like receptor subfamily B member 3 isoform
            2 precursor [Homo sapiens].
ACCESSION   NP_006855 XP_003960816 XP_003960817 XP_003960818 XP_003960819
            XP_003960820 XP_003960821 XP_003960822 XP_003960823 XP_003960824
            XP_005277284 XP_005277344 XP_011546973
VERSION     NP_006855.3
DBSOURCE    REFSEQ: accession NM_006864.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 631)
  AUTHORS   Zhou J, Wang Y, Huang G, Yang M, Zhu Y, Jin C, Jing D, Ji K and Shi
            Y.
  TITLE     LilrB3 is a putative cell surface receptor of APOE4
  JOURNAL   Cell Res 33 (2), 116-130 (2023)
   PUBMED   36588123
  REMARK    GeneRIF: LilrB3 is a putative cell surface receptor of APOE4.
REFERENCE   2  (residues 1 to 631)
  AUTHORS   Wu G, Xu Y, Schultz RD, Chen H, Xie J, Deng M, Liu X, Gui X, John
            S, Lu Z, Arase H, Zhang N, An Z and Zhang CC.
  TITLE     LILRB3 supports acute myeloid leukemia development and regulates
            T-cell antitumor immune responses through the TRAF2-cFLIP-NF-kappaB
            signaling axis
  JOURNAL   Nat Cancer 2 (11), 1170-1184 (2021)
   PUBMED   35122056
  REMARK    GeneRIF: LILRB3 supports acute myeloid leukemia development and
            regulates T-cell antitumor immune responses through the
            TRAF2-cFLIP-NF-kappaB signaling axis.
REFERENCE   3  (residues 1 to 631)
  AUTHORS   Ayukawa S, Kamoshita N, Nakayama J, Teramoto R, Pishesha N, Ohba K,
            Sato N, Kozawa K, Abe H, Semba K, Goda N, Fujita Y and Maruyama T.
  TITLE     Epithelial cells remove precancerous cells by cell competition via
            MHC class I-LILRB3 interaction
  JOURNAL   Nat Immunol 22 (11), 1391-1402 (2021)
   PUBMED   34686865
  REMARK    GeneRIF: Epithelial cells remove precancerous cells by cell
            competition via MHC class I-LILRB3 interaction.
REFERENCE   4  (residues 1 to 631)
  AUTHORS   Zhang Q, Zheng Y, Ning M and Li T.
  TITLE     KLRD1, FOSL2 and LILRB3 as potential biomarkers for plaques
            progression in acute myocardial infarction and stable coronary
            artery disease
  JOURNAL   BMC Cardiovasc Disord 21 (1), 344 (2021)
   PUBMED   34271875
  REMARK    GeneRIF: KLRD1, FOSL2 and LILRB3 as potential biomarkers for
            plaques progression in acute myocardial infarction and stable
            coronary artery disease.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 631)
  AUTHORS   Hirayasu K, Sun J, Hasegawa G, Hashikawa Y, Hosomichi K, Tajima A,
            Tokunaga K, Ohashi J and Hanayama R.
  TITLE     Characterization of LILRB3 and LILRA6 allelic variants in the
            Japanese population
  JOURNAL   J Hum Genet 66 (7), 739-748 (2021)
   PUBMED   33526815
  REMARK    GeneRIF: Characterization of LILRB3 and LILRA6 allelic variants in
            the Japanese population.
REFERENCE   6  (residues 1 to 631)
  AUTHORS   Bashirova AA, Apps R, Vince N, Mochalova Y, Yu XG and Carrington M.
  TITLE     Diversity of the human LILRB3/A6 locus encoding a myeloid
            inhibitory and activating receptor pair
  JOURNAL   Immunogenetics 66 (1), 1-8 (2014)
   PUBMED   24096970
REFERENCE   7  (residues 1 to 631)
  AUTHORS   Colonna M, Navarro F, Bellon T, Llano M, Garcia P, Samaridis J,
            Angman L, Cella M and Lopez-Botet M.
  TITLE     A common inhibitory receptor for major histocompatibility complex
            class I molecules on human lymphoid and myelomonocytic cells
  JOURNAL   J Exp Med 186 (11), 1809-1818 (1997)
   PUBMED   9382880
REFERENCE   8  (residues 1 to 631)
  AUTHORS   Arm JP, Nwankwo C and Austen KF.
  TITLE     Molecular identification of a novel family of human Ig superfamily
            members that possess immunoreceptor tyrosine-based inhibition
            motifs and homology to the mouse gp49B1 inhibitory receptor
  JOURNAL   J Immunol 159 (5), 2342-2349 (1997)
   PUBMED   9278324
REFERENCE   9  (residues 1 to 631)
  AUTHORS   Cella M, Dohring C, Samaridis J, Dessing M, Brockhaus M,
            Lanzavecchia A and Colonna M.
  TITLE     A novel inhibitory receptor (ILT3) expressed on monocytes,
            macrophages, and dendritic cells involved in antigen processing
  JOURNAL   J Exp Med 185 (10), 1743-1751 (1997)
   PUBMED   9151699
REFERENCE   10 (residues 1 to 631)
  AUTHORS   Samaridis J and Colonna M.
  TITLE     Cloning of novel immunoglobulin superfamily receptors expressed on
            human myeloid and lymphoid cells: structural evidence for new
            stimulatory and inhibitory pathways
  JOURNAL   Eur J Immunol 27 (3), 660-665 (1997)
   PUBMED   9079806
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA620532.1, AF009633.1,
            BC028153.1 and CA434108.1.
            On or before Mar 22, 2015 this sequence version replaced
            XP_011546973.1, XP_005277344.1, NP_006855.2.
            
            Summary: This gene is a member of the leukocyte immunoglobulin-like
            receptor (LIR) family, which is found in a gene cluster at
            chromosomal region 19q13.4. The encoded protein belongs to the
            subfamily B class of LIR receptors which contain two or four
            extracellular immunoglobulin domains, a transmembrane domain, and
            two to four cytoplasmic immunoreceptor tyrosine-based inhibitory
            motifs (ITIMs). The receptor is expressed on immune cells where it
            binds to MHC class I molecules on antigen-presenting cells and
            transduces a negative signal that inhibits stimulation of an immune
            response. It is thought to control inflammatory responses and
            cytotoxicity to help focus the immune response and limit
            autoreactivity. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF009633.1, AK223265.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000445347.2/ ENSP00000388199.2
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..631
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..631
                     /product="leukocyte immunoglobulin-like receptor subfamily
                     B member 3 isoform 2 precursor"
                     /note="monocyte inhibitory receptor HL9;
                     immunoglobulin-like transcript 5; CD85 antigen-like family
                     member A; leukocyte immunoglobulin-like receptor,
                     subfamily A (with TM domain), member 6; leukocyte
                     immunoglobulin-like receptor, subfamily B (with TM and
                     ITIM domains), member 3; leucocyte Ig-like receptor B3"
                     /calculated_mol_wt=67036
     sig_peptide     1..23
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2415
     Region          28..116
                     /region_name="IgC2_D1_LILR_KIR_like"
                     /note="First immunoglobulin (Ig)-like domain found in
                     Leukocyte Ig-like receptors (LILRs), Natural killer
                     inhibitory receptors (KIRs) and similar domains; member of
                     Immunoglobulin Constant-2 set of IgSF domains; cd05751"
                     /db_xref="CDD:409409"
     Region          29..33
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409409"
     Region          37..40
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409409"
     Region          43..50
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409409"
     Region          57..62
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409409"
     Site            order(61,99,106)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:409409"
     Region          70..73
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409409"
     Region          82..86
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409409"
     Region          94..100
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409409"
     Region          110..116
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409409"
     Region          123..217
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          140..144
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          152..156
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          179..183
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          193..198
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          211..214
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          224..317
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          241..245
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          253..257
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          279..283
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          293..298
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          310..313
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          326..418
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          341..345
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          353..357
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          379..383
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          393..398
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          411..414
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..631
                     /gene="LILRB3"
                     /gene_synonym="CD85A; HL9; ILT-5; ILT5; LILRA6; LIR-3;
                     LIR3; PIR-B; PIRB"
                     /coded_by="NM_006864.4:32..1927"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS33105.1"
                     /db_xref="GeneID:11025"
                     /db_xref="HGNC:HGNC:6607"
                     /db_xref="MIM:604820"
ORIGIN      
        1 mtpaltallc lglslgprtr mqagpfpkpt lwaepgsvis wgspvtiwcq gsleaqeyql
       61 dkegspepwd rnnplepknk arfsipsmtq hhagryrchy yssagwseps dplelvmtgf
      121 ynkptlsalp spvvasggnm tlrcgsqkgy hhfvlmkege hqlprtldsq qlhsggfqal
      181 fpvgpvtpsh rwrftcyyyy tntpwvwshp sdpleilpsg vsrkpslltl qgpvlapgqs
      241 ltlqcgsdvg ydrfvlykeg erdflqrpgq qpqaglsqan ftlgpvsrsy ggqyrcygah
      301 nlssewsaps dpldilitgq iydtvslsaq pgptvasgen mtllcqsrgy fdtflltkeg
      361 aahpplrlrs mygahkyqae fpmspvtsah agtyrcygsr ssnphllsfp seplelmvsg
      421 hsggsslppt gppstpglgr ylevligvsv afvlllflll fllllrqrhs khrtsdqrkt
      481 dfqrpagaae tepkdrgllr rsspaadvqe enlyaavkdt qsedrvelds qsphdedpqa
      541 vtyapvkhss prremaspps slsgefldtk drqveedrqm dteaaaseas qdvtyaqlhs
      601 ltlrrkatep ppsqegeppa epsiyatlai h
//
LOCUS       NP_848597                347 aa            linear   PRI 12-FEB-2023
DEFINITION  probable E3 ubiquitin-protein ligase DTX3 isoform a [Homo sapiens].
ACCESSION   NP_848597
VERSION     NP_848597.1
DBSOURCE    REFSEQ: accession NM_178502.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 347)
  AUTHORS   Hu W, Hu Y, Pei Y, Li R, Xu F, Chi X, Mi J, Bergquist J, Lu L,
            Zhang L and Yang C.
  TITLE     Silencing DTX3L Inhibits the Progression of Cervical Carcinoma by
            Regulating PI3K/AKT/mTOR Signaling Pathway
  JOURNAL   Int J Mol Sci 24 (1), 861 (2023)
   PUBMED   36614304
  REMARK    GeneRIF: Silencing DTX3L Inhibits the Progression of Cervical
            Carcinoma by Regulating PI3K/AKT/mTOR Signaling Pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 347)
  AUTHORS   Valla M, Opdahl S, Ytterhus B and Bofin AM.
  TITLE     DTX3 copy number increase in breast cancer: a study of associations
            to molecular subtype, proliferation and prognosis
  JOURNAL   Breast Cancer Res Treat 187 (1), 57-67 (2021)
   PUBMED   33616774
  REMARK    GeneRIF: DTX3 copy number increase in breast cancer: a study of
            associations to molecular subtype, proliferation and prognosis.
REFERENCE   3  (residues 1 to 347)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 347)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 347)
  AUTHORS   Ding XY, Hu HY, Huang KN, Wei RQ, Min J, Qi C, Tang H and Qin X.
  TITLE     Ubiquitination of NOTCH2 by DTX3 suppresses the proliferation and
            migration of human esophageal carcinoma
  JOURNAL   Cancer Sci 111 (2), 489-501 (2020)
   PUBMED   31854042
  REMARK    GeneRIF: DTX3, a novel E3 ligase for NOTCH2 was identified, and
            promoted its ubiquitination and degradation. DTX3 overexpression
            suppressed the proliferation and tumorigenicity of human
            oesophageal carcinoma cells. The analysis of tissue samples from
            patients revealed that the expression of DTX3 was low in esophageal
            cancer cells.
REFERENCE   6  (residues 1 to 347)
  AUTHORS   Markson G, Kiel C, Hyde R, Brown S, Charalabous P, Bremm A, Semple
            J, Woodsmith J, Duley S, Salehi-Ashtiani K, Vidal M, Komander D,
            Serrano L, Lehner P and Sanderson CM.
  TITLE     Analysis of the human E2 ubiquitin conjugating enzyme protein
            interaction network
  JOURNAL   Genome Res 19 (10), 1905-1911 (2009)
   PUBMED   19549727
REFERENCE   7  (residues 1 to 347)
  AUTHORS   Chastagner P, Israel A and Brou C.
  TITLE     Itch/AIP4 mediates Deltex degradation through the formation of
            K29-linked polyubiquitin chains
  JOURNAL   EMBO Rep 7 (11), 1147-1153 (2006)
   PUBMED   17028573
  REMARK    GeneRIF: We show here that both molecules (Deltex (DTX) and AIP4)
            interact and partially colocalize to endocytic vesicles, and that
            AIP4 targets DTX for lysosomal degradation.
REFERENCE   8  (residues 1 to 347)
  AUTHORS   Takeyama K, Aguiar RC, Gu L, He C, Freeman GJ, Kutok JL, Aster JC
            and Shipp MA.
  TITLE     The BAL-binding protein BBAP and related Deltex family members
            exhibit ubiquitin-protein isopeptide ligase activity
  JOURNAL   J Biol Chem 278 (24), 21930-21937 (2003)
   PUBMED   12670957
  REMARK    GeneRIF: It is reported that BBAP and the human family of DTX
            proteins (DTX1, DTX2, and DTX3) function as E3 ligases based on
            their capacity for self-ubiquitination.
REFERENCE   9  (residues 1 to 347)
  AUTHORS   Kishi N, Tang Z, Maeda Y, Hirai A, Mo R, Ito M, Suzuki S, Nakao K,
            Kinoshita T, Kadesch T, Hui C, Artavanis-Tsakonas S, Okano H and
            Matsuno K.
  TITLE     Murine homologs of deltex define a novel gene family involved in
            vertebrate Notch signaling and neurogenesis
  JOURNAL   Int J Dev Neurosci 19 (1), 21-35 (2001)
   PUBMED   11226752
REFERENCE   10 (residues 1 to 347)
  AUTHORS   Matsuno K, Diederich RJ, Go MJ, Blaumueller CM and
            Artavanis-Tsakonas S.
  TITLE     Deltex acts as a positive regulator of Notch signaling through
            interactions with the Notch ankyrin repeats
  JOURNAL   Development 121 (8), 2633-2644 (1995)
   PUBMED   7671825
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK092085.1 and AK094385.1.
            
            Summary: DTX3 functions as an E3 ubiquitin ligase (Takeyama et al.,
            2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the shorter isoform (a). Both variants 1 and
            2 encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.445099.1, AK092085.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337737.8/ ENSP00000338050.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..347
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     Protein         1..347
                     /product="probable E3 ubiquitin-protein ligase DTX3
                     isoform a"
                     /EC_number="2.3.2.27"
                     /note="protein deltex-3; RING finger protein 154; probable
                     E3 ubiquitin-protein ligase DTX3; deltex 3, E3 ubiquitin
                     ligase; deltex homolog 3; RING-type E3 ubiquitin
                     transferase DTX3"
                     /calculated_mol_wt=37857
     Region          113..157
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9I9.2)"
     Region          161..214
                     /region_name="RING-HC_DTX3"
                     /note="RING finger, HC subclass, found in E3
                     ubiquitin-protein ligase Deltex3 (DTX3) and similar
                     proteins; cd16711"
                     /db_xref="CDD:438371"
     Region          210..344
                     /region_name="DTC"
                     /note="Deltex C-terminal domain; pfam18102"
                     /db_xref="CDD:436275"
     Site            order(220..224,226,239,241,243..245,264..266,268,302,
                     315..316,324)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:193607"
     CDS             1..347
                     /gene="DTX3"
                     /gene_synonym="deltex3; RNF154"
                     /coded_by="NM_178502.4:335..1378"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS41800.1"
                     /db_xref="GeneID:196403"
                     /db_xref="HGNC:HGNC:24457"
                     /db_xref="MIM:613142"
ORIGIN      
        1 msfvlsrmaa cggtcknkvt vskpvwdfls ketparlarl reehrvsili dgetsdiyvl
       61 qlspqgpppa ppnglylark alkgllkeae kelkkaqrqg elmgclalgg ggehpemhra
      121 gppplraapl lppgarglpp pppplppplp prlreeaeeq estcpiclge iqnaktlekc
      181 rhsfcegcit ralqvkkacp mcgrfygqlv gnqpqngrml vskdatlllp syekygtivi
      241 qyvfppgvqg aehpnpgvry pgttrvaylp dcpegnkvlt lfrkafdqrl tftigtsmtt
      301 grpnvitwnd ihhktsctgg pqlfgypdpt yltrvqeelr akgitdd
//
LOCUS       NP_005517                529 aa            linear   PRI 19-FEB-2023
DEFINITION  heat shock factor protein 1 [Homo sapiens].
ACCESSION   NP_005517 XP_942811
VERSION     NP_005517.1
DBSOURCE    REFSEQ: accession NM_005526.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 529)
  AUTHORS   Cheng H, Wang S, Huang A, Ma J, Gao D, Li M, Chen H and Guo K.
  TITLE     HSF1 is involved in immunotherapeutic response through regulating
            APOJ/STAT3-mediated PD-L1 expression in hepatocellular carcinoma
  JOURNAL   Cancer Biol Ther 24 (1), 1-9 (2023)
   PUBMED   36482717
  REMARK    GeneRIF: HSF1 is involved in immunotherapeutic response through
            regulating APOJ/STAT3-mediated PD-L1 expression in hepatocellular
            carcinoma.
REFERENCE   2  (residues 1 to 529)
  AUTHORS   Tandon V, Moreno R, Allmeroth K, Quinn J, Wiley SE, Nicely LG,
            Denzel MS, Edwards J, de la Vega L and Banerjee S.
  TITLE     Dual inhibition of HSF1 and DYRK2 impedes cancer progression
  JOURNAL   Biosci Rep 43 (1) (2023)
   PUBMED   36622366
  REMARK    GeneRIF: Dual inhibition of HSF1 and DYRK2 impedes cancer
            progression.
REFERENCE   3  (residues 1 to 529)
  AUTHORS   Yang Z, Wan W, Zhang P, Wang S, Zhao Z, Xue J, Yao M, Zhao Y, Zheng
            W, Niu B, Wang M, Li H, Guo W, Ren Z and Hu Y.
  TITLE     Crosstalk between heat shock factor 1 and signal transducer and
            activator of transcription 3 mediated by interleukin-8 autocrine
            signaling maintains the cancer stem cell phenotype in liver cancer
  JOURNAL   J Gastroenterol Hepatol 38 (1), 138-152 (2023)
   PUBMED   36300571
  REMARK    GeneRIF: Crosstalk between heat shock factor 1 and signal
            transducer and activator of transcription 3 mediated by
            interleukin-8 autocrine signaling maintains the cancer stem cell
            phenotype in liver cancer.
REFERENCE   4  (residues 1 to 529)
  AUTHORS   Dong Q, Xiu Y, Wang Y, Hodgson C, Borcherding N, Jordan C, Buchanan
            J, Taylor E, Wagner B, Leidinger M, Holman C, Thiele DJ, O'Brien S,
            Xue HH, Zhao J, Li Q, Meyerson H, Boyce BF and Zhao C.
  TITLE     HSF1 is a driver of leukemia stem cell self-renewal in acute
            myeloid leukemia
  JOURNAL   Nat Commun 13 (1), 6107 (2022)
   PUBMED   36245043
  REMARK    GeneRIF: HSF1 is a driver of leukemia stem cell self-renewal in
            acute myeloid leukemia.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 529)
  AUTHORS   Pariollaud M, Ibrahim LH, Irizarry E, Mello RM, Chan AB, Altman BJ,
            Shaw RJ, Bollong MJ, Wiseman RL and Lamia KA.
  TITLE     Circadian disruption enhances HSF1 signaling and tumorigenesis in
            Kras-driven lung cancer
  JOURNAL   Sci Adv 8 (39), eabo1123 (2022)
   PUBMED   36170373
  REMARK    GeneRIF: Circadian disruption enhances HSF1 signaling and
            tumorigenesis in Kras-driven lung cancer.
REFERENCE   6  (residues 1 to 529)
  AUTHORS   Nunes SL and Calderwood SK.
  TITLE     Heat shock factor-1 and the heat shock cognate 70 protein associate
            in high molecular weight complexes in the cytoplasm of NIH-3T3
            cells
  JOURNAL   Biochem Biophys Res Commun 213 (1), 1-6 (1995)
   PUBMED   7639722
REFERENCE   7  (residues 1 to 529)
  AUTHORS   Green M, Schuetz TJ, Sullivan EK and Kingston RE.
  TITLE     A heat shock-responsive domain of human HSF1 that regulates
            transcription activation domain function
  JOURNAL   Mol Cell Biol 15 (6), 3354-3362 (1995)
   PUBMED   7760831
REFERENCE   8  (residues 1 to 529)
  AUTHORS   Abravaya K, Myers MP, Murphy SP and Morimoto RI.
  TITLE     The human heat shock protein hsp70 interacts with HSF, the
            transcription factor that regulates heat shock gene expression
  JOURNAL   Genes Dev 6 (7), 1153-1164 (1992)
   PUBMED   1628823
REFERENCE   9  (residues 1 to 529)
  AUTHORS   Schuetz TJ, Gallo GJ, Sheldon L, Tempst P and Kingston RE.
  TITLE     Isolation of a cDNA for HSF2: evidence for two heat shock factor
            genes in humans
  JOURNAL   Proc Natl Acad Sci U S A 88 (16), 6911-6915 (1991)
   PUBMED   1871106
REFERENCE   10 (residues 1 to 529)
  AUTHORS   Rabindran SK, Giorgi G, Clos J and Wu C.
  TITLE     Molecular cloning and expression of a human heat shock factor, HSF1
  JOURNAL   Proc Natl Acad Sci U S A 88 (16), 6906-6910 (1991)
   PUBMED   1871105
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M64673.1 and BU617486.1.
            On Mar 4, 2006 this sequence version replaced XP_942811.1.
            
            Summary: The product of this gene is a transcription factor that is
            rapidly induced after temperature stress and binds heat shock
            promoter elements (HSE). This protein plays a role in the
            regulation of lifespan. Expression of this gene is repressed by
            phosphorylation, which promotes binding by heat shock protein 90.
            [provided by RefSeq, Jul 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK222497.1, M64673.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000528838.6/ ENSP00000431512.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..529
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..529
                     /product="heat shock factor protein 1"
                     /calculated_mol_wt=57130
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Region          14..118
                     /region_name="HSF"
                     /note="heat shock factor; smart00415"
                     /db_xref="CDD:214654"
     Region          15..120
                     /region_name="DNA-binding domain.
                     /evidence=ECO:0000269|PubMed:26727489,
                     ECO:0000269|PubMed:7935471"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00613.1)"
     Site            80
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:19229036,
                     ECO:0000269|PubMed:24581496; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Site            91
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:24581496; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Site            118
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:24581496,
                     ECO:0000269|PubMed:26754925; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Site            121
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPKAPK2.
                     /evidence=ECO:0000269|PubMed:15760475,
                     ECO:0000269|PubMed:16278218; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Region          130..203
                     /region_name="Hydrophobic repeat HR-A/B.
                     /evidence=ECO:0000269|PubMed:7935471"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00613.1)"
     Site            142
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CK2.
                     /evidence=ECO:0000269|PubMed:12659875; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Site            150
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:24581496; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Site            188
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:24581496; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Region          203..224
                     /region_name="D domain.
                     /evidence=ECO:0000269|PubMed:10747973"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00613.1)"
     Site            208
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:24581496; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Site            216
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PLK1.
                     /evidence=ECO:0000269|PubMed:18794143; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Region          221..310
                     /region_name="Regulatory domain.
                     /evidence=ECO:0000269|PubMed:7760831"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00613.1)"
     Site            230
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CAMK2A.
                     /evidence=ECO:0000269|PubMed:11447121,
                     ECO:0000269|PubMed:15760475; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Region          252..529
                     /region_name="Vert_HS_TF"
                     /note="Vertebrate heat shock transcription factor;
                     pfam06546"
                     /db_xref="CDD:429000"
     Site            275
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:8940068; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Site            292
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15760475; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Region          295..324
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00613.1)"
     Site            298
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:24581496; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Site            303
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by GSK3-beta.
                     /evidence=ECO:0000269|PubMed:11447121,
                     ECO:0000269|PubMed:12665592, ECO:0000269|PubMed:15760475,
                     ECO:0000269|PubMed:16371476, ECO:0000269|PubMed:8940068,
                     ECO:0000269|PubMed:8946918, ECO:0000269|PubMed:9121459,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q00613.1)"
     Site            307
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK3.
                     /evidence=ECO:0000269|PubMed:11447121,
                     ECO:0000269|PubMed:15760475, ECO:0000269|PubMed:8940068,
                     ECO:0000269|PubMed:8946918, ECO:0000269|PubMed:9121459,
                     ECO:0000269|PubMed:9535852, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q00613.1)"
     Site            314
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15760475,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Site            319
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15760475; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Site            320
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:21085490,
                     ECO:0000269|PubMed:27189267; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Site            323
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Site            326
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK12.
                     /evidence=ECO:0000269|PubMed:15760475,
                     ECO:0000269|PubMed:27354066, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Region          336..372
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00613.1)"
     Site            344
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15760475; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Site            363
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK8.
                     /evidence=ECO:0000269|PubMed:10747973,
                     ECO:0000269|PubMed:15760475, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q00613.1)"
     Region          371..529
                     /region_name="Transactivation domain.
                     /evidence=ECO:0000269|PubMed:7623826,
                     ECO:0000269|PubMed:7760831"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00613.1)"
     Region          384..409
                     /region_name="Hydrophobic repeat HR-C.
                     /evidence=ECO:0000269|PubMed:7935471"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00613.1)"
     Region          412..420
                     /region_name="9aaTAD.
                     /evidence=ECO:0000303|PubMed:17467953"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00613.1)"
     Site            419
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PLK1.
                     /evidence=ECO:0000269|PubMed:15661742; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Region          444..463
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00613.1)"
     Site            444
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15760475; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     Region          502..529
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00613.1)"
     Site            524
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:24581496; propagated from
                     UniProtKB/Swiss-Prot (Q00613.1)"
     CDS             1..529
                     /gene="HSF1"
                     /gene_synonym="HSTF1"
                     /coded_by="NM_005526.4:155..1744"
                     /db_xref="CCDS:CCDS6419.1"
                     /db_xref="GeneID:3297"
                     /db_xref="HGNC:HGNC:5224"
                     /db_xref="MIM:140580"
ORIGIN      
        1 mdlpvgpgaa gpsnvpaflt klwtlvsdpd tdalicwsps gnsfhvfdqg qfakevlpky
       61 fkhnnmasfv rqlnmygfrk vvhieqgglv kperddtefq hpcflrgqeq llenikrkvt
      121 svstlksedi kirqdsvtkl ltdvqlmkgk qecmdsklla mkhenealwr evaslrqkha
      181 qqqkvvnkli qflislvqsn rilgvkrkip lmlndsgsah smpkysrqfs lehvhgsgpy
      241 sapspaysss slyapdavas sgpiisdite lapaspmasp ggsiderpls ssplvrvkee
      301 ppsppqsprv eeaspgrpss vdtllsptal idsilresep apasvtaltd arghtdtegr
      361 ppsppptstp ekclsvacld knelsdhlda mdsnldnlqt mlsshgfsvd tsalldlfsp
      421 svtvpdmslp dldsslasiq ellspqeppr ppeaensspd sgkqlvhyta qplflldpgs
      481 vdtgsndlpv lfelgegsyf segdgfaedp tislltgsep pkakdptvs
//
LOCUS       NP_001361439             177 aa            linear   PRI 19-FEB-2023
DEFINITION  cyclin-dependent kinase inhibitor 1 isoform 3 [Homo sapiens].
ACCESSION   NP_001361439
VERSION     NP_001361439.1
DBSOURCE    REFSEQ: accession NM_001374510.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 177)
  AUTHORS   Zhao MH, Liu W, Zhang X, Zhang Y and Luo B.
  TITLE     Epstein-Barr virus miR-BART2-5p and miR-BART11-5p regulate cell
            proliferation, apoptosis, and migration by targeting RB and p21 in
            gastric carcinoma
  JOURNAL   J Med Virol 95 (1), e28338 (2023)
   PUBMED   36418188
  REMARK    GeneRIF: Epstein-Barr virus miR-BART2-5p and miR-BART11-5p regulate
            cell proliferation, apoptosis, and migration by targeting RB and
            p21 in gastric carcinoma.
REFERENCE   2  (residues 1 to 177)
  AUTHORS   Maheshwari M, Yadav N, Hasanain M, Pandey P, Sahai R, Choyal K,
            Singh A, Nengroo MA, Saini KK, Kumar D, Mitra K, Datta D and Sarkar
            J.
  TITLE     Inhibition of p21 activates Akt kinase to trigger ROS-induced
            autophagy and impacts on tumor growth rate
  JOURNAL   Cell Death Dis 13 (12), 1045 (2022)
   PUBMED   36522339
  REMARK    GeneRIF: Inhibition of p21 activates Akt kinase to trigger
            ROS-induced autophagy and impacts on tumor growth rate.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 177)
  AUTHORS   Semenova EA, Zempo H, Miyamoto-Mikami E, Kumagai H, Larin AK,
            Sultanov RI, Babalyan KA, Zhelankin AV, Tobina T, Shiose K, Kakigi
            R, Tsuzuki T, Ichinoseki-Sekine N, Kobayashi H, Naito H, Burniston
            J, Generozov EV, Fuku N and Ahmetov II.
  TITLE     Genome-Wide Association Study Identifies CDKN1A as a Novel Locus
            Associated with Muscle Fiber Composition
  JOURNAL   Cells 11 (23), 3910 (2022)
   PUBMED   36497168
  REMARK    GeneRIF: Genome-Wide Association Study Identifies CDKN1A as a Novel
            Locus Associated with Muscle Fiber Composition.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 177)
  AUTHORS   Eltayeb MM, Ali MM, Omar SM, Mohamed NS, Adam I and Hamdan HZ.
  TITLE     Gene polymorphisms of cyclin-dependent kinase inhibitor and matrix
            metalloproteinase-9 in Sudanese patients with esophageal squamous
            cell carcinoma
  JOURNAL   Mol Genet Genomic Med 10 (12), e2074 (2022)
   PUBMED   36259348
  REMARK    GeneRIF: Gene polymorphisms of cyclin-dependent kinase inhibitor
            and matrix metalloproteinase-9 in Sudanese patients with esophageal
            squamous cell carcinoma.
REFERENCE   5  (residues 1 to 177)
  AUTHORS   Zhu H, Wang X, Zhou X, Lu S, Gu G and Liu C.
  TITLE     E3 ubiquitin ligase FBXW7 enhances radiosensitivity of non-small
            cell lung cancer cells by inhibiting SOX9 regulation of CDKN1A
            through ubiquitination
  JOURNAL   Lab Invest 102 (11), 1203-1213 (2022)
   PUBMED   36775446
  REMARK    GeneRIF: E3 ubiquitin ligase FBXW7 enhances radiosensitivity of
            non-small cell lung cancer cells by inhibiting SOX9 regulation of
            CDKN1A through ubiquitination.
REFERENCE   6  (residues 1 to 177)
  AUTHORS   Kim KM, Cho H and Kim YK.
  TITLE     The upstream open reading frame of cyclin-dependent kinase
            inhibitor 1A mRNA negatively regulates translation of the
            downstream main open reading frame
  JOURNAL   Biochem Biophys Res Commun 424 (3), 469-475 (2012)
   PUBMED   22771799
  REMARK    GeneRIF: These findings provide biological insights into the
            possible role of nonsense-mediated mRNA decay in diverse biological
            pathways mediated by CDKN1A.
REFERENCE   7  (residues 1 to 177)
  AUTHORS   Kearsey JM, Coates PJ, Prescott AR, Warbrick E and Hall PA.
  TITLE     Gadd45 is a nuclear cell cycle regulated protein which interacts
            with p21Cip1
  JOURNAL   Oncogene 11 (9), 1675-1683 (1995)
   PUBMED   7478594
REFERENCE   8  (residues 1 to 177)
  AUTHORS   Hall M, Bates S and Peters G.
  TITLE     Evidence for different modes of action of cyclin-dependent kinase
            inhibitors: p15 and p16 bind to kinases, p21 and p27 bind to
            cyclins
  JOURNAL   Oncogene 11 (8), 1581-1588 (1995)
   PUBMED   7478582
REFERENCE   9  (residues 1 to 177)
  AUTHORS   Mousses S, Ozcelik H, Lee PD, Malkin D, Bull SB and Andrulis IL.
  TITLE     Two variants of the CIP1/WAF1 gene occur together and are
            associated with human cancer
  JOURNAL   Hum Mol Genet 4 (6), 1089-1092 (1995)
   PUBMED   7655464
REFERENCE   10 (residues 1 to 177)
  AUTHORS   Demetrick DJ, Matsumoto S, Hannon GJ, Okamoto K, Xiong Y, Zhang H
            and Beach DH.
  TITLE     Chromosomal mapping of the genes for the human cell cycle proteins
            cyclin C (CCNC), cyclin E (CCNE), p21 (CDKN1) and KAP (CDKN3)
  JOURNAL   Cytogenet Cell Genet 69 (3-4), 190-192 (1995)
   PUBMED   7698009
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z85996.1.
            
            Summary: This gene encodes a potent cyclin-dependent kinase
            inhibitor. The encoded protein binds to and inhibits the activity
            of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4
            complexes, and thus functions as a regulator of cell cycle
            progression at G1. The expression of this gene is tightly
            controlled by the tumor suppressor protein p53, through which this
            protein mediates the p53-dependent cell cycle G1 phase arrest in
            response to a variety of stress stimuli. This protein can interact
            with proliferating cell nuclear antigen, a DNA polymerase accessory
            factor, and plays a regulatory role in S phase DNA replication and
            DNA damage repair. This protein was reported to be specifically
            cleaved by CASP3-like caspases, which thus leads to a dramatic
            activation of cyclin-dependent kinase2, and may be instrumental in
            the execution of apoptosis following caspase activation. Mice that
            lack this gene have the ability to regenerate damaged or missing
            tissue. Multiple alternatively spliced variants have been found for
            this gene. [provided by RefSeq, Sep 2015].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.3800228.1,
                                           SRR14038197.2506213.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..177
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.2"
     Protein         1..177
                     /product="cyclin-dependent kinase inhibitor 1 isoform 3"
                     /note="melanoma differentiation associated protein 6;
                     CDK-interaction protein 1; wild-type p53-activated
                     fragment 1; DNA synthesis inhibitor; cyclin-dependent
                     kinase inhibitor 1; CDK-interacting protein 1;
                     cyclin-dependent kinase inhibitor 1A (p21, Cip1)"
                     /calculated_mol_wt=19368
     Region          34..79
                     /region_name="CDI"
                     /note="Cyclin-dependent kinase inhibitor; pfam02234"
                     /db_xref="CDD:426671"
     CDS             1..177
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /coded_by="NM_001374510.1:75..608"
                     /note="isoform 3 is encoded by transcript variant 7"
                     /db_xref="GeneID:1026"
                     /db_xref="HGNC:HGNC:1784"
                     /db_xref="MIM:116899"
ORIGIN      
        1 mvgdrrplkt pgamsepagd vrqnpcgska crrlfgpvds eqlsrdcdal magciqeare
       61 rwnfdfvtet plegdfawer vrglglpkly lptgprrgrd elgggrrpgt spallqgtae
      121 edhvdlslsc tlvprsgeqa egspggpgds qgrkrrqtsm tdfyhskrrl ifskrkp
//
LOCUS       NP_001318029            1054 aa            linear   PRI 22-FEB-2023
DEFINITION  ankyrin repeat domain-containing protein 18A isoform 1 [Homo
            sapiens].
ACCESSION   NP_001318029
VERSION     NP_001318029.1
DBSOURCE    REFSEQ: accession NM_001331100.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1054)
  AUTHORS   Liu WB, Han F, Jiang X, Yang LJ, Li YH, Liu Y, Chen HQ, Ao L, Cui
            ZH, Cao J and Liu JY.
  TITLE     ANKRD18A as a novel epigenetic regulation gene in lung cancer
  JOURNAL   Biochem Biophys Res Commun 429 (3-4), 180-185 (2012)
   PUBMED   23131552
  REMARK    GeneRIF: These results suggest that ANKRD18A hypermethylation and
            consequent mRNA alterations might be a vital molecular mechanism in
            lung cancer.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL591543.22.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1054
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.1"
     Protein         1..1054
                     /product="ankyrin repeat domain-containing protein 18A
                     isoform 1"
                     /note="ankyrin repeat domain-containing protein 18A"
                     /calculated_mol_wt=122647
     Region          38..65
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          58..256
                     /region_name="ANKYR"
                     /note="Ankyrin repeat [Signal transduction mechanisms];
                     COG0666"
                     /db_xref="CDD:223738"
     Site            order(69,73..74,77..79,81..82,86,89,98,100,102,106..107,
                     110..112,114..115,119,122,131,133,135,139..140,143..145,
                     147..148,152,155,164)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          69..98
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          100..131
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          133..164
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          138..230
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          166..197
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          199..230
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          389..679
                     /region_name="CCDC144C"
                     /note="CCDC144C protein coiled-coil region; pfam14915"
                     /db_xref="CDD:434310"
     Region          <522..969
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     Region          926..1028
                     /region_name="DUF3496"
                     /note="Domain of unknown function (DUF3496); pfam12001"
                     /db_xref="CDD:432253"
     CDS             1..1054
                     /gene="ANKRD18A"
                     /coded_by="NM_001331100.2:312..3476"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS94409.1"
                     /db_xref="GeneID:253650"
                     /db_xref="HGNC:HGNC:23643"
                     /db_xref="MIM:620259"
ORIGIN      
        1 mrklfsfgrr lgqallssmd qeyagpgydi rdwelrkihr aaikgdaaev ercltrrfrd
       61 ldardrkdrt vlhlacahgr vqvvtlllhr rcqidicdrl nrtplmkavh sqeeacaivl
      121 lecganpnie diygntalhy avynkgtsla erllshhani ealnkegntp llfainsrrq
      181 hmvefllknq anihavdnfk rtalilavqh nlssivtlll qqnirissqd mfgqtaedya
      241 lcsdlrsirq qilehknkml knhlrndnqe aaamknesfk tqgasskvsl yhqsgvqwhd
      301 lrllqpsppr fkqfsclslp rswdnrhmrp cpetaamkpa nlkkrkerak ehnlkvasee
      361 kqerlqrsen kqpqdsqsyg kkkdamygnf mlkkdiamlk eelyaiknds lrkekkyiqe
      421 iksiteinan feksvrlnek mitktvarys qqlndlkaen arlnseleke khnkerleae
      481 veslhsslat aineyneive rkdlelvlwr addvsrhekm gsnisqltdk nellteqvhk
      541 arvkfntlkg klretrdalr ektlalgsvq ldlrqaqhri kemkqmhpng eakesqsigk
      601 qnsleerirq qelenlller qledarkegd nkeivinihr dclengkedl leernkelmk
      661 eynylkekll qcekekaere vivrefqeel vdhlktfsis esplegtshc hinlnetwts
      721 kkklfqveiq peekheefrk lfelisllny tadqirkknr eleeeatgyk kclemtinml
      781 nafanedfsc hgdlntdqlk mdilfkklkq kfndlvaeke avssecvnla kdnevlhqel
      841 lsmrnvqekc eklekdkkml eeevlnlkth mekdmvelgk lqeykselde ravqeiekle
      901 eihlqkqaey ekqleqlnkd ntaslkkkel tlkdveckfs kmktayeevt teleefkeaf
      961 agavkannsm skklmksdkk iavistklft ekqrmkyfls tlptrpepel pcvenlnsie
     1021 lnrkyipkta iriptsnpqt snncknflte vllc
//
LOCUS       NP_705932                622 aa            linear   PRI 11-MAR-2023
DEFINITION  sodium/potassium/calcium exchanger 4 isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_705932
VERSION     NP_705932.2
DBSOURCE    REFSEQ: accession NM_153646.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 622)
  AUTHORS   Thibodeau S, Yang W, Sharma S and Lytton J.
  TITLE     Calmodulin binds and modulates K+-dependent Na+/Ca2+-exchanger
            isoform 4, NCKX4
  JOURNAL   J Biol Chem 296, 100092 (2021)
   PUBMED   33199372
  REMARK    GeneRIF: Calmodulin binds and modulates K(+)-dependent
            Na(+)/Ca(2+)-exchanger isoform 4, NCKX4.
REFERENCE   2  (residues 1 to 622)
  AUTHORS   Meyer OS, Lunn MMB, Garcia SL, Kjaerbye AB, Morling N, Borsting C
            and Andersen JD.
  TITLE     Association between brown eye colour in rs12913832:GG individuals
            and SNPs in TYR, TYRP1, and SLC24A4
  JOURNAL   PLoS One 15 (9), e0239131 (2020)
   PUBMED   32915910
  REMARK    GeneRIF: Association between brown eye colour in rs12913832:GG
            individuals and SNPs in TYR, TYRP1, and SLC24A4.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 622)
  AUTHORS   Khan SA, Khan MA, Muhammad N, Bashir H, Khan N, Muhammad N, Yilmaz
            R, Khan S and Wasif N.
  TITLE     A novel nonsense variant in SLC24A4 causing a rare form of
            amelogenesis imperfecta in a Pakistani family
  JOURNAL   BMC Med Genet 21 (1), 97 (2020)
   PUBMED   32380970
  REMARK    GeneRIF: This nonsense sequence variant c.1192C > T (p.Gln398*) is
            the sixth disease-causing variant in SLC24A4, which extends its
            mutation spectrum and confirms the role of this gene in the
            morphogenesis of human tooth enamel. The identified variant
            highlights the critical role of SLC24A4 in causing a rare
            Amelogenesis imperfecta (AI) type in humans.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 622)
  AUTHORS   Bronckers AL, Jalali R and Lytton J.
  TITLE     Reduced Protein Expression of the Na+/Ca2++K+-Exchanger (SLC24A4)
            in Apical Plasma Membranes of Maturation Ameloblasts of Fluorotic
            Mice
  JOURNAL   Calcif Tissue Int 100 (1), 80-86 (2017)
   PUBMED   27752731
REFERENCE   5  (residues 1 to 622)
  AUTHORS   Lu H, Zhu XC, Wang HF, Cao L, Tan MS, Tan CC, Jiang T, Yu JT and
            Tan L.
  TITLE     Lack of Association Between SLC24A4 Polymorphism and Late-onset
            Alzheimer's Disease in Han Chinese
  JOURNAL   Curr Neurovasc Res 13 (3), 239-243 (2016)
   PUBMED   27215332
  REMARK    GeneRIF: no significant relation was noted between SLC24A4
            rs10498633 and late-onset Alzheimer;s disease risk in neither
            apolipoprotein E (APOE) epsilon4 carriers nor non-carriers after
            adjusting for age and gender
REFERENCE   6  (residues 1 to 622)
  AUTHORS   Duffy DL, Zhao ZZ, Sturm RA, Hayward NK, Martin NG and Montgomery
            GW.
  TITLE     Multiple pigmentation gene polymorphisms account for a substantial
            proportion of risk of cutaneous malignant melanoma
  JOURNAL   J Invest Dermatol 130 (2), 520-528 (2010)
   PUBMED   19710684
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   7  (residues 1 to 622)
  AUTHORS   Adeyemo A, Gerry N, Chen G, Herbert A, Doumatey A, Huang H, Zhou J,
            Lashley K, Chen Y, Christman M and Rotimi C.
  TITLE     A genome-wide association study of hypertension and blood pressure
            in African Americans
  JOURNAL   PLoS Genet 5 (7), e1000564 (2009)
   PUBMED   19609347
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (residues 1 to 622)
  AUTHORS   Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, Hankinson SE, Hu
            FB, Duffy DL, Zhao ZZ, Martin NG, Montgomery GW, Hayward NK, Thomas
            G, Hoover RN, Chanock S and Hunter DJ.
  TITLE     A genome-wide association study identifies novel alleles associated
            with hair color and skin pigmentation
  JOURNAL   PLoS Genet 4 (5), e1000074 (2008)
   PUBMED   18483556
  REMARK    GeneRIF: IRF4 and SLC24A4 loci are associated with human hair color
            and skin pigmentation.
            GeneRIF: Genome-wide association study of gene-disease association.
            (HuGE Navigator)
            Publication Status: Online-Only
REFERENCE   9  (residues 1 to 622)
  AUTHORS   Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T,
            Magnusson KP, Manolescu A, Karason A, Palsson A, Thorleifsson G,
            Jakobsdottir M, Steinberg S, Palsson S, Jonasson F, Sigurgeirsson
            B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Aben KK,
            Kiemeney LA, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U and
            Stefansson K.
  TITLE     Genetic determinants of hair, eye and skin pigmentation in
            Europeans
  JOURNAL   Nat Genet 39 (12), 1443-1452 (2007)
   PUBMED   17952075
  REMARK    GeneRIF: Genome-wide association study of gene-disease association.
            (HuGE Navigator)
REFERENCE   10 (residues 1 to 622)
  AUTHORS   Li XF, Kraev AS and Lytton J.
  TITLE     Molecular cloning of a fourth member of the potassium-dependent
            sodium-calcium exchanger gene family, NCKX4
  JOURNAL   J Biol Chem 277 (50), 48410-48417 (2002)
   PUBMED   12379639
  REMARK    GeneRIF: identification and sequencing, as well as mapping to
            chromosomal region 14q32
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL118559.6, AF520704.1 and
            BC050357.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 17, 2010 this sequence version replaced NP_705932.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF520704.1, BC069653.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000532405.6/ ENSP00000431840.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..622
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12"
     Protein         1..622
                     /product="sodium/potassium/calcium exchanger 4 isoform 1
                     precursor"
                     /note="Na(+)/K(+)/Ca(2+)-exchange protein 4; solute
                     carrier family 24 (sodium/potassium/calcium exchanger),
                     member 4; Na/Ca-K exchanger 4"
                     /calculated_mol_wt=64860
     sig_peptide     1..38
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFF2.2)"
                     /calculated_mol_wt=4200
     mat_peptide     39..622
                     /product="Sodium/potassium/calcium exchanger 4.
                     /id=PRO_0000019373"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFF2.2)"
                     /calculated_mol_wt=64860
     Site            69
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFF2.2)"
     Site            76
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFF2.2)"
     Region          <80..606
                     /region_name="2A1904"
                     /note="K+-dependent Na+/Ca+ exchanger; TIGR00927"
                     /db_xref="CDD:273344"
     Site            98..118
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFF2.2)"
     Region          139..179
                     /region_name="Alpha-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFF2.2)"
     Site            143..163
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFF2.2)"
     Site            173..193
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFF2.2)"
     Site            201..221
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFF2.2)"
     Site            225..245
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFF2.2)"
     Region          358..410
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFF2.2)"
     Site            458..478
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFF2.2)"
     Site            480..500
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFF2.2)"
     Region          495..526
                     /region_name="Alpha-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFF2.2)"
     Site            527..547
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFF2.2)"
     Site            558..578
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFF2.2)"
     Site            587..607
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFF2.2)"
     CDS             1..622
                     /gene="SLC24A4"
                     /gene_synonym="AI2A5; NCKX4; SHEP6; SLC24A2"
                     /coded_by="NM_153646.4:667..2535"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS9903.2"
                     /db_xref="GeneID:123041"
                     /db_xref="HGNC:HGNC:10978"
                     /db_xref="MIM:609840"
ORIGIN      
        1 malrgtlrpl kvrrrremlp qqvgfvcavl alvccasglf gslghktasa skrvlpdtwr
       61 nrklmapvng tqtaknctdp aihefptdlf snkerqhgav llhilgalym fyalaivcdd
      121 ffvpslekic erlhlsedva gatfmaagss tpelfasvig vfithgdvgv gtivgsavfn
      181 ilciigvcgl fagqvvrltw wavcrdsvyy tisvivlivf iydeqivwwe glvliilyvf
      241 yilimkynvk mqafftvkqk siangnpvns eleagndfyd gsyddpsvpl lgqvkekpqy
      301 gknpvvmvde imsssppkft fpeaglrimi tnkfgprtrl rmasriiine rqrlinsang
      361 vsskplqngr heniengnvp venpedpqqn qeqqpppqpp ppepepvead flspfsvpea
      421 rgdkvkwvft wplifllcvt ipncskprwe kffmvtfita tlwiavfsyi mvwlvtiigy
      481 tlgipdvimg itflaagtsv pdcmasliva rqglgdmavs ntigsnvfdi lvglgvpwgl
      541 qtmvvnygst vkinsrglvy svvlllgsva ltvlgihlnk wrldrklgvy vlvlyaiflc
      601 fsimiefnvf tfvnlpmcre dd
//
LOCUS       NP_001350793             793 aa            linear   PRI 11-MAR-2023
DEFINITION  B-cell lymphoma/leukemia 11A isoform 4 [Homo sapiens].
ACCESSION   NP_001350793 XP_011531214
VERSION     NP_001350793.1
DBSOURCE    REFSEQ: accession NM_001363864.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 793)
  AUTHORS   Liu A, Hu Y, Chong B, Zheng S and Li L.
  TITLE     [Genetic analysis of a family with BCL11A-related intellectual
            disability]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (1), 42-46 (2023)
   PUBMED   36584999
  REMARK    GeneRIF: [Genetic analysis of a family with BCL11A-related
            intellectual disability].
REFERENCE   2  (residues 1 to 793)
  AUTHORS   Li H, Lin R, Li H, Ou R, Wang K, Lin J and Li C.
  TITLE     MicroRNA-92a-3p-mediated inhibition of BCL11A upregulates
            gamma-globin expression and inhibits oxidative stress and apoptosis
            in erythroid precursor cells
  JOURNAL   Hematology 27 (1), 1152-1162 (2022)
   PUBMED   36178486
  REMARK    GeneRIF: MicroRNA-92a-3p-mediated inhibition of BCL11A upregulates
            gamma-globin expression and inhibits oxidative stress and apoptosis
            in erythroid precursor cells.
REFERENCE   3  (residues 1 to 793)
  AUTHORS   Sales RR, Nogueira BL, Belisario AR, Faria G, Mendes F, Viana MB
            and Luizon MR.
  TITLE     Fetal hemoglobin-boosting haplotypes of BCL11A gene and HBS1L-MYB
            intergenic region in the prediction of clinical and hematological
            outcomes in a cohort of children with sickle cell anemia
  JOURNAL   J Hum Genet 67 (12), 701-709 (2022)
   PUBMED   36167770
  REMARK    GeneRIF: Fetal hemoglobin-boosting haplotypes of BCL11A gene and
            HBS1L-MYB intergenic region in the prediction of clinical and
            hematological outcomes in a cohort of children with sickle cell
            anemia.
REFERENCE   4  (residues 1 to 793)
  AUTHORS   Huang P, Peslak SA, Ren R, Khandros E, Qin K, Keller CA, Giardine
            B, Bell HW, Lan X, Sharma M, Horton JR, Abdulmalik O, Chou ST, Shi
            J, Crossley M, Hardison RC, Cheng X and Blobel GA.
  TITLE     HIC2 controls developmental hemoglobin switching by repressing
            BCL11A transcription
  JOURNAL   Nat Genet 54 (9), 1417-1426 (2022)
   PUBMED   35941187
  REMARK    GeneRIF: HIC2 controls developmental hemoglobin switching by
            repressing BCL11A transcription.
REFERENCE   5  (residues 1 to 793)
  AUTHORS   Jin Q, Chen Y, Du S, Xu D, Yue J, Cai L and Yuan X.
  TITLE     BCL11A Facilitates Cell Proliferation and Metastasis in
            Neuroblastoma via Regulating the PI3K/Akt Signaling Pathway
  JOURNAL   Curr Cancer Drug Targets 22 (11), 919-930 (2022)
   PUBMED   35909289
  REMARK    GeneRIF: BCL11A Facilitates Cell Proliferation and Metastasis in
            Neuroblastoma via Regulating the PI3K/Akt Signaling Pathway.
REFERENCE   6  (residues 1 to 793)
  AUTHORS   Satterwhite E, Sonoki T, Willis TG, Harder L, Nowak R, Arriola EL,
            Liu H, Price HP, Gesk S, Steinemann D, Schlegelberger B, Oscier DG,
            Siebert R, Tucker PW and Dyer MJ.
  TITLE     The BCL11 gene family: involvement of BCL11A in lymphoid
            malignancies
  JOURNAL   Blood 98 (12), 3413-3420 (2001)
   PUBMED   11719382
REFERENCE   7  (residues 1 to 793)
  AUTHORS   Saiki Y, Yamazaki Y, Yoshida M, Katoh O and Nakamura T.
  TITLE     Human EVI9, a homologue of the mouse myeloid leukemia gene, is
            expressed in the hematopoietic progenitors and down-regulated
            during myeloid differentiation of HL60 cells
  JOURNAL   Genomics 70 (3), 387-391 (2000)
   PUBMED   11161790
REFERENCE   8  (residues 1 to 793)
  AUTHORS   Nakamura T, Yamazaki Y, Saiki Y, Moriyama M, Largaespada DA,
            Jenkins NA and Copeland NG.
  TITLE     Evi9 encodes a novel zinc finger protein that physically interacts
            with BCL6, a known human B-cell proto-oncogene product
  JOURNAL   Mol Cell Biol 20 (9), 3178-3186 (2000)
   PUBMED   10757802
REFERENCE   9  (residues 1 to 793)
  AUTHORS   Avram D, Fields A, Pretty On Top K, Nevrivy DJ, Ishmael JE and Leid
            M.
  TITLE     Isolation of a novel family of C(2)H(2) zinc finger proteins
            implicated in transcriptional repression mediated by chicken
            ovalbumin upstream promoter transcription factor (COUP-TF) orphan
            nuclear receptors
  JOURNAL   J Biol Chem 275 (14), 10315-10322 (2000)
   PUBMED   10744719
REFERENCE   10 (residues 1 to 793)
  AUTHORS   Peron,A., Bradbury,K., Viskochil,D.H. and Dias,C.
  TITLE     BCL11A-Related Intellectual Disability
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31556984
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009970.10 and AC007381.3.
            On Jun 3, 2018 this sequence version replaced XP_011531214.1.
            
            Summary: This gene encodes a C2H2 type zinc-finger protein by its
            similarity to the mouse Bcl11a/Evi9 protein. The corresponding
            mouse gene is a common site of retroviral integration in myeloid
            leukemia, and may function as a leukemia disease gene, in part,
            through its interaction with BCL6. During hematopoietic cell
            differentiation, this gene is down-regulated. It is possibly
            involved in lymphoma pathogenesis since translocations associated
            with B-cell malignancies also deregulates its expression. Multiple
            transcript variants encoding several different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (4) has multiple differences in
            the coding region and 3' UTR, compared to variant 1. It encodes an
            isoform (4) with a shorter and distinct C-terminus, compared to
            isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK297507.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
                                   variant(s)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..793
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.1"
     Protein         1..793
                     /product="B-cell lymphoma/leukemia 11A isoform 4"
                     /note="ecotropic viral integration site 9 homolog;
                     C2H2-type zinc finger protein; B-cell lymphoma/leukemia
                     11A; B-cell CLL/lymphoma 11A (zinc finger protein); BCL11A
                     B-cell CLL/lymphoma 11A (zinc finger protein);
                     COUP-TF-interacting protein 1; ecotropic viral integration
                     site 9 protein homolog; zinc finger protein 856; B cell
                     CLL/lymphoma 11A; BCL11A, BAF complex component; BAF
                     chromatin remodeling complex subunit BCL11A"
                     /calculated_mol_wt=86264
     Region          344..365
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          345..365
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          357..382
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          373..393
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          709..730
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          710..730
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Site            order(715,717,719,721..722,725..726,729,743,745..747,
                     749..750,754,757)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275370"
     Region          722..747
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          738..758
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     CDS             1..793
                     /gene="BCL11A"
                     /gene_synonym="CTIP1; DILOS; EVI9; HBFQTL5; SMARCM1;
                     ZNF856"
                     /coded_by="NM_001363864.1:229..2610"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS86845.1"
                     /db_xref="GeneID:53335"
                     /db_xref="HGNC:HGNC:13221"
                     /db_xref="MIM:606557"
ORIGIN      
        1 msrrkqgkpq hlskrefspe pleailtdde pdhgplgape gdhdlltcgq cqmnfplgdi
       61 lifiehkrkq cngslcleka vdkppspspi emkkasnpve vgiqvtpedd dclstssrgi
      121 cpkqehiagk depssytctt ckqpftsawf llqhaqnthg lriylesehg spltprvgip
      181 sglgaecpsq pplhgihiad nnpfnllrip gsvsreasgl aegrfpptpp lfsppprhhl
      241 dphrierlga eemalathhp safdrvlrln pmameppamd fsrrlrelag ntsspplspg
      301 rpspmqrllq pfqpgskppf latpplpplq sapppsqppv kskscefcgk tfkfqsnlvv
      361 hrrshtgekp ykcnlcdhac tqasklkrhm kthmhksspm tvksddglst asspepgtsd
      421 lvgsassalk svvakfksen dpnlipengd eeeeeddeee eeeeeeeeee lteservdyg
      481 fglsleaarh henssrgavv gvgdesralp dvmqgmvlss mqhfseafhq vlgekhkrgh
      541 laeaeghrdt cdedsvages driddgtvng rgcspgesas gglskklllg spsslspfsk
      601 riklekefdl ppaampnten vysqwlagya asrqlkdpfl sfgdsrqspf asssehssen
      661 gslrfstppg eldggisgrs gtgsggstph isgpgpgrps skegrrsdtc eycgkvfknc
      721 snltvhrrsh tgerpykcel cnyacaqssk ltrhmkthgq vlhtppfgvv prelkmcgsf
      781 rmeareplss eki
//
LOCUS       NP_001317939            1716 aa            linear   PRI 14-MAR-2023
DEFINITION  intersectin-1 isoform 5 [Homo sapiens].
ACCESSION   NP_001317939 XP_005261083
VERSION     NP_001317939.1
DBSOURCE    REFSEQ: accession NM_001331010.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1716)
  AUTHORS   Lan C, Zhang H, Wang K, Liu X, Zhao Y, Guo Z, Zhang N, Zhou Y, Gao
            M, Gu F and Ma Y.
  TITLE     The alternative splicing of intersectin 1 regulated by PTBP1
            promotes human glioma progression
  JOURNAL   Cell Death Dis 13 (9), 835 (2022)
   PUBMED   36171198
  REMARK    GeneRIF: The alternative splicing of intersectin 1 regulated by
            PTBP1 promotes human glioma progression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1716)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (residues 1 to 1716)
  AUTHORS   Bruel AL, Vitobello A, Thiffault I, Manwaring L, Willing M, Agrawal
            PB, Bayat A, Kitzler TM, Brownstein CA, Genetti CA,
            Gonzalez-Heydrich J, Jayakar P, Zyskind JW, Zhu Z, Vachet C, Wilson
            GR, Pruniski B, Goyette AM, Duffourd Y, Thauvin-Robinet C, Philippe
            C and Faivre L.
  TITLE     ITSN1: a novel candidate gene involved in autosomal dominant
            neurodevelopmental disorder spectrum
  JOURNAL   Eur J Hum Genet 30 (1), 111-116 (2022)
   PUBMED   34707297
  REMARK    GeneRIF: ITSN1: a novel candidate gene involved in autosomal
            dominant neurodevelopmental disorder spectrum.
REFERENCE   4  (residues 1 to 1716)
  AUTHORS   Zhang H, Guo Z, Liu X, Zhao Y, Chen Y, Zhang M, Fu L, Gu F and Ma
            Y.
  TITLE     Endocytic protein intersectin1-S shuttles into nucleus to suppress
            the DNA replication in breast cancer
  JOURNAL   Cell Death Dis 12 (10), 922 (2021)
   PUBMED   34625530
  REMARK    GeneRIF: Endocytic protein intersectin1-S shuttles into nucleus to
            suppress the DNA replication in breast cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1716)
  AUTHORS   Pankivskyi S, Pastre D, Steiner E, Joshi V, Rynditch A and Hamon L.
  TITLE     ITSN1 regulates SAM68 solubility through SH3 domain interactions
            with SAM68 proline-rich motifs
  JOURNAL   Cell Mol Life Sci 78 (4), 1745-1763 (2021)
   PUBMED   32780150
  REMARK    GeneRIF: ITSN1 regulates SAM68 solubility through SH3 domain
            interactions with SAM68 proline-rich motifs.
REFERENCE   6  (residues 1 to 1716)
  AUTHORS   Sengar AS, Wang W, Bishay J, Cohen S and Egan SE.
  TITLE     The EH and SH3 domain Ese proteins regulate endocytosis by linking
            to dynamin and Eps15
  JOURNAL   EMBO J 18 (5), 1159-1171 (1999)
   PUBMED   10064583
REFERENCE   7  (residues 1 to 1716)
  AUTHORS   Yamabhai M, Hoffman NG, Hardison NL, McPherson PS, Castagnoli L,
            Cesareni G and Kay BK.
  TITLE     Intersectin, a novel adaptor protein with two Eps15 homology and
            five Src homology 3 domains
  JOURNAL   J Biol Chem 273 (47), 31401-31407 (1998)
   PUBMED   9813051
REFERENCE   8  (residues 1 to 1716)
  AUTHORS   Guipponi M, Scott HS, Chen H, Schebesta A, Rossier C and
            Antonarakis SE.
  TITLE     Two isoforms of a human intersectin (ITSN) protein are produced by
            brain-specific alternative splicing in a stop codon
  JOURNAL   Genomics 53 (3), 369-376 (1998)
   PUBMED   9799604
REFERENCE   9  (residues 1 to 1716)
  AUTHORS   Chen H and Antonarakis SE.
  TITLE     The SH3D1A gene maps to human chromosome 21q22.1-->q22.2
  JOURNAL   Cytogenet Cell Genet 78 (3-4), 213-215 (1997)
   PUBMED   9465890
REFERENCE   10 (residues 1 to 1716)
  AUTHORS   Sparks AB, Hoffman NG, McConnell SJ, Fowlkes DM and Kay BK.
  TITLE     Cloning of ligand targets: systematic isolation of SH3
            domain-containing proteins
  JOURNAL   Nat Biotechnol 14 (6), 741-744 (1996)
   PUBMED   9630982
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK027846.1, AP000308.1,
            AP000311.1, KF511399.1, AP000312.2 and AP000313.1.
            On Sep 3, 2016 this sequence version replaced XP_005261083.1.
            
            Summary: The protein encoded by this gene is a cytoplasmic
            membrane-associated protein that indirectly coordinates endocytic
            membrane traffic with the actin assembly machinery. In addition,
            the encoded protein may regulate the formation of clathrin-coated
            vesicles and could be involved in synaptic vesicle recycling. This
            protein has been shown to interact with dynamin, CDC42, SNAP23,
            SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript
            variants encoding different isoforms have been found for this gene,
            but the full-length nature of only two of them have been
            characterized so far. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC116185.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1716
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     Protein         1..1716
                     /product="intersectin-1 isoform 5"
                     /note="human intersectin-SH3 domain-containing protein
                     SH3P17; Src homology 3 domain-containing protein; SH3
                     domain-containing protein 1A; intersectin 1 (SH3 domain
                     protein)"
                     /calculated_mol_wt=194692
     Region          14..108
                     /region_name="EH"
                     /note="Eps15 homology domain; smart00027"
                     /db_xref="CDD:197477"
     Site            203
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15811.3)"
     Region          214..309
                     /region_name="EH"
                     /note="Eps15 homology domain; smart00027"
                     /db_xref="CDD:197477"
     Site            318
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0R4; propagated from
                     UniProtKB/Swiss-Prot (Q15811.3)"
     Region          322..348
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15811.3)"
     Region          326..702
                     /region_name="KLERQ"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15811.3)"
     Region          335..>638
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          615..>719
                     /region_name="tolA"
                     /note="cell envelope integrity inner membrane protein
                     TolA; Provisional; PRK09510"
                     /db_xref="CDD:236545"
     Region          650..701
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15811.3)"
     Site            687
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9WVE9; propagated from
                     UniProtKB/Swiss-Prot (Q15811.3)"
     Region          744..798
                     /region_name="SH3_Intersectin1_1"
                     /note="First Src homology 3 domain (or SH3A) of
                     Intersectin-1; cd11987"
                     /db_xref="CDD:212920"
     Site            order(749,751,754,758,778..779,792,794..795)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212920"
     Region          798..912
                     /region_name="INTAP"
                     /note="Intersectin and clathrin adaptor AP2 binding
                     region; pfam16617"
                     /db_xref="CDD:435467"
     Region          831..863
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15811.3)"
     Site            892
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0R4; propagated from
                     UniProtKB/Swiss-Prot (Q15811.3)"
     Site            896
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q15811.3)"
     Site            897
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q15811.3)"
     Site            899
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q15811.3)"
     Region          912..963
                     /region_name="SH3_Intersectin1_2"
                     /note="Second Src homology 3 domain (or SH3B) of
                     Intersectin-1; cd11989"
                     /db_xref="CDD:212922"
     Site            order(917,919,922,926,943..944,957,959..960)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212922"
     Site            973
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9WVE9; propagated from
                     UniProtKB/Swiss-Prot (Q15811.3)"
     Site            981
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15811.3)"
     Site            990
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q15811.3)"
     Region          1001..1052
                     /region_name="SH3_Intersectin1_3"
                     /note="Third Src homology 3 domain (or SH3C) of
                     Intersectin-1; cd11991"
                     /db_xref="CDD:212924"
     Site            order(1006,1008,1011,1015,1032..1033,1046,1048..1049)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212924"
     Region          1069..1133
                     /region_name="SH3_Intersectin1_4"
                     /note="Fourth Src homology 3 domain (or SH3D) of
                     Intersectin-1; cd11993"
                     /db_xref="CDD:212926"
     Region          1069..1133
                     /region_name="Required for interaction with FCHSD2.
                     /evidence=ECO:0000269|PubMed:29887380"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15811.3)"
     Site            order(1078,1080,1083,1087,1105..1106,1124,1126..1127)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212926"
     Region          1099..1122
                     /region_name="Bipartite nuclear localization signal, in
                     isoform 2. /evidence=ECO:0000269|PubMed:29599122"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15811.3)"
     Site            1132
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15811.3)"
     Site            1139
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q15811.3)"
     Region          1153..1206
                     /region_name="SH3_Intersectin1_5"
                     /note="Fifth Src homology 3 domain (or SH3E) of
                     Intersectin-1; cd11995"
                     /db_xref="CDD:212928"
     Site            order(1159,1161,1164,1168,1186..1187,1200,1202..1203)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212928"
     Region          1233..1416
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(1239,1243,1339,1367..1368,1371..1372,1374..1375,
                     1378..1379,1382..1383,1386,1412,1416)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          1435..1577
                     /region_name="PH_13"
                     /note="Pleckstrin homology domain; pfam16652"
                     /db_xref="CDD:435489"
     Region          1577..1711
                     /region_name="C2_Intersectin"
                     /note="C2 domain present in Intersectin; cd08375"
                     /db_xref="CDD:176021"
     Site            order(1613,1660,1662,1668)
                     /site_type="other"
                     /note="putative Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176021"
     Site            1640
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0R4; propagated from
                     UniProtKB/Swiss-Prot (Q15811.3)"
     CDS             1..1716
                     /gene="ITSN1"
                     /gene_synonym="ITSN; SH3D1A; SH3P17"
                     /coded_by="NM_001331010.2:246..5396"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS82664.1"
                     /db_xref="GeneID:6453"
                     /db_xref="HGNC:HGNC:6183"
                     /db_xref="MIM:602442"
ORIGIN      
        1 maqfptpfgg sldiwaitve erakhdqqfh slkpisgfit gdqarnfffq sglpqpvlaq
       61 iwaladmnnd grmdqvefsi amkliklklq gyqlpsalpp vmkqqpvais sapafgmggi
      121 asmppltava pvpmgsipvv gmsptlvssv ptaavpplan gappviqplp afahpaatlp
      181 ksssfsrsgp gsqlntklqk aqsfdvasvp pvaewavpqs srlkyrqlfn shdktmsghl
      241 tgpqartilm qsslpqaqla siwnlsdidq dgkltaeefi lamhlidvam sgqplppvlp
      301 peyippsfrr vrsgsgisvi sstsvdqrlp eepvledeqq qlekklpvtf edkkrenfer
      361 gnlelekrrq alleqqrkeq erlaqlerae qerkererqe qerkrqlele kqlekqrele
      421 rqreeerrke ierreaakre lerqrqlewe rnrrqellnq rnkeqedivv lkakkktlef
      481 elealndkkh qlegklqdir crlttqrqei estnksrelr iaeithlqqq lqesqqmlgr
      541 lipekqilnd qlkqvqqnsl hrdslvtlkr aleakelarq hlrdqldeve ketrsklqei
      601 difnnqlkel reihnkqqlq kqksmeaerl kqkeqerkii elekqkeeaq rraqerdkqw
      661 lehvqqedeh qrprklheee klkreesvkk kdgeekgkqe aqdklgrlfh qhqepakpav
      721 qapwstaekg pltisaqenv kvvyyralyp fesrshdeit iqpgdivmvd esqtgepgwl
      781 ggelkgktgw fpanyaekip enevpapvkp vtdstsapap klalretpap lavtssepst
      841 tpnnwadfss twptstnekp etdnwdawaa qpsltvpsag qlrqrsaftp atatgsspsp
      901 vlgqgekveg lqaqalypwr akkdnhlnfn kndvitvleq qdmwwfgevq gqkgwfpksy
      961 vklisgpirk stsmdsgsse spaslkrvas paakpvvsge efiamytyes seqgdltfqq
     1021 gdvilvtkkd gdwwtgtvgd kagvfpsnyv rlkdsegsgt agktgslgkk peiaqviasy
     1081 tatgpeqltl apgqlilirk knpggwwege lqargkkrqi gwfpanyvkl lspgtskitp
     1141 teppkstala avcqvigmyd ytaqnddela fnkgqiinvl nkedpdwwkg evngqvglfp
     1201 snyvklttdm dpsqqwcsdl hlldmltpte rkrqgyihel ivteenyvnd lqlvteifqk
     1261 plmesellte kevamifvnw kelimcnikl lkalrvrkkm sgekmpvkmi gdilsaqlph
     1321 mqpyirfcsr qlngaaliqq ktdeapdfke fvkrlamdpr ckgmplssfi lkpmqrvtry
     1381 pliiknilen tpenhpdhsh lkhalekaee lcsqvnegvr ekensdrlew iqahvqcegl
     1441 seqlvfnsvt nclgprkflh sgklykaksn kelygflfnd fllltqitkp lgssgtdkvf
     1501 spksnlqykm yktpiflnev lvklptdpsg depifhishi drvytlraes inertawvqk
     1561 ikaaselyie tekkkrekay lvrsqratgi grlmvnvveg ielkpcrshg ksnpycevtm
     1621 gsqchitkti qdtlnpkwns ncqffirdle qevlcitvfe rdqfspddfl grteirvadi
     1681 kkdqgskgpv tkclllhevp tgeivvrldl qlfdep
//
LOCUS       NP_002943                293 aa            linear   PRI 14-MAR-2023
DEFINITION  40S ribosomal protein S2 [Homo sapiens].
ACCESSION   NP_002943
VERSION     NP_002943.2
DBSOURCE    REFSEQ: accession NM_002952.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 293)
  AUTHORS   Zhang J, Liu W, Ji P and Zhang Y.
  TITLE     Silencing of long chain noncoding RNA paternally expressed gene
            (PEG10) inhibits the progression of neuroblastoma by regulating
            microRNA-449a (miR-449a)/ribosomal protein S2 (RPS2) axis
  JOURNAL   Bioengineered 13 (3), 6309-6322 (2022)
   PUBMED   35212607
  REMARK    GeneRIF: Silencing of long chain noncoding RNA paternally expressed
            gene (PEG10) inhibits the progression of neuroblastoma by
            regulating microRNA-449a (miR-449a)/ribosomal protein S2 (RPS2)
            axis.
REFERENCE   2  (residues 1 to 293)
  AUTHORS   Landry-Voyer AM, Bergeron D, Yague-Sanz C, Baker B and Bachand F.
  TITLE     PDCD2 functions as an evolutionarily conserved chaperone dedicated
            for the 40S ribosomal protein uS5 (RPS2)
  JOURNAL   Nucleic Acids Res 48 (22), 12900-12916 (2020)
   PUBMED   33245768
  REMARK    GeneRIF: PDCD2 functions as an evolutionarily conserved chaperone
            dedicated for the 40S ribosomal protein uS5 (RPS2).
REFERENCE   3  (residues 1 to 293)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 293)
  AUTHORS   Cho J, Park J, Shin SC, Kim JH, Kim EE and Song EJ.
  TITLE     Ribosomal protein S2 interplays with MDM2 to induce p53
  JOURNAL   Biochem Biophys Res Commun 523 (2), 542-547 (2020)
   PUBMED   31928715
  REMARK    GeneRIF: Ribosomal protein S2 interplays with MDM2 to induce p53.
REFERENCE   5  (residues 1 to 293)
  AUTHORS   Fan X, Xia H, Liu X, Li B and Fang J.
  TITLE     Rational design of type-IA receptor-derived cyclic peptides to
            target human bone morphogenic protein 2
  JOURNAL   J Biosci 44 (6) (2019)
   PUBMED   31894111
  REMARK    GeneRIF: The RPS2([r78-94]) peptide is further extended from its N-
            and C-termini until reaching two spatially vicinal residues 74 and
            98 in the crystal structure of intact BMP2-receptor complex system,
            consequently resulting in a longer peptide RPS2([r74-98]), which is
            then cyclized in a head-to-tail manner to obtain its cyclic
            counterpart cycRPS2([r74-98]).
REFERENCE   6  (residues 1 to 293)
  AUTHORS   Bortoluzzi S, d'Alessi F, Romualdi C and Danieli GA.
  TITLE     Differential expression of genes coding for ribosomal proteins in
            different human tissues
  JOURNAL   Bioinformatics 17 (12), 1152-1157 (2001)
   PUBMED   11751223
REFERENCE   7  (residues 1 to 293)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   8  (residues 1 to 293)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   9  (residues 1 to 293)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   10 (residues 1 to 293)
  AUTHORS   Slynn G, Jenner D, Potts W, Elvin P, Morten JE and Markham AF.
  TITLE     Human cDNA sequence homologous to the mouse LLRep3 gene family
  JOURNAL   Nucleic Acids Res 18 (3), 681 (1990)
   PUBMED   2308862
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC066321.1, BC068051.1 and AC005363.1.
            On Aug 1, 2001 this sequence version replaced NP_002943.1.
            
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S5P family of ribosomal proteins. It is located in the
            cytoplasm. This gene shares sequence similarity with mouse LLRep3.
            It is co-transcribed with the small nucleolar RNA gene U64, which
            is located in its third intron. As is typical for genes encoding
            ribosomal proteins, there are multiple processed pseudogenes of
            this gene dispersed through the genome. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.465938.1,
                                           SRR1163655.432815.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152474, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000343262.9/ ENSP00000341885.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..293
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..293
                     /product="40S ribosomal protein S2"
                     /note="OK/KNS-cl.6; protein LLRep3; 40S ribosomal protein
                     S4; small ribosomal subunit protein uS5"
                     /calculated_mol_wt=31193
     Region          1..56
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P15880.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P15880.2)"
     Region          54..273
                     /region_name="PTZ00070"
                     /note="40S ribosomal protein S2; Provisional"
                     /db_xref="CDD:240255"
     Site            252
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P15880.2)"
     Site            263
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P15880.2)"
     Site            264
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P15880.2)"
     Site            270
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P15880.2)"
     Site            275
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P15880.2)"
     Site            281
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P15880.2)"
     CDS             1..293
                     /gene="RPS2"
                     /gene_synonym="LLREP3; S2; uS5"
                     /coded_by="NM_002952.4:24..905"
                     /db_xref="CCDS:CCDS10452.1"
                     /db_xref="GeneID:6187"
                     /db_xref="HGNC:HGNC:10404"
                     /db_xref="MIM:603624"
ORIGIN      
        1 maddagaagg pggpggpgmg nrggfrggfg sgirgrgrgr grgrgrgrga rggkaedkew
       61 mpvtklgrlv kdmkikslee iylfslpike seiidfflga slkdevlkim pvqkqtragq
      121 rtrfkafvai gdynghvglg vkcskevata irgaiilakl sivpvrrgyw gnkigkphtv
      181 pckvtgrcgs vlvrlipapr gtgivsapvp kkllmmagid dcytsargct atlgnfakat
      241 fdaisktysy ltpdlwketv ftkspyqeft dhlvkthtrv svqrtqapav att
//
LOCUS       NP_001257320             303 aa            linear   PRI 14-MAR-2023
DEFINITION  ras association domain-containing protein 6 isoform c [Homo
            sapiens].
ACCESSION   NP_001257320
VERSION     NP_001257320.1
DBSOURCE    REFSEQ: accession NM_001270391.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 303)
  AUTHORS   Kuleape JA, Hossain S, Sinclear CK, Shimizu T, Iwasa H, Maruyama J,
            Arimoto-Matsuzaki K, Nishina H and Hata Y.
  TITLE     DNA Damage Triggers the Nuclear Accumulation of RASSF6 Tumor
            Suppressor Protein via CDK9 and BAF53 To Regulate p53 Target Gene
            Transcription
  JOURNAL   Mol Cell Biol 42 (2), e0031021 (2022)
   PUBMED   34898277
  REMARK    GeneRIF: DNA Damage Triggers the Nuclear Accumulation of RASSF6
            Tumor Suppressor Protein via CDK9 and BAF53 To Regulate p53 Target
            Gene Transcription.
REFERENCE   2  (residues 1 to 303)
  AUTHORS   Zhou W, Liu Y and Wu X.
  TITLE     Down-regulation of circITCH promotes osteosarcoma development and
            resistance to doxorubicin via the miR-524/RASSF6 axis
  JOURNAL   J Gene Med 23 (10), e3373 (2021)
   PUBMED   34151476
  REMARK    GeneRIF: Down-regulation of circITCH promotes osteosarcoma
            development and resistance to doxorubicin via the miR-524/RASSF6
            axis.
REFERENCE   3  (residues 1 to 303)
  AUTHORS   Zhao A, Liu W, Cui X, Wang N, Wang Y, Sun L, Xue H, Wu L, Cui S,
            Yang Y and Bai R.
  TITLE     lncRNA TUSC7 inhibits osteosarcoma progression through the
            miR-181a/RASSF6 axis
  JOURNAL   Int J Mol Med 47 (2), 583-594 (2021)
   PUBMED   33416181
  REMARK    GeneRIF: lncRNA TUSC7 inhibits osteosarcoma progression through the
            miR181a/RASSF6 axis.
REFERENCE   4  (residues 1 to 303)
  AUTHORS   Bozdogan O, Guresci S, Ocalan D and Bozdogan N.
  TITLE     Kindlin-3 and RASSF6 are probable biomarkers for predicting
            metastasis in cutaneous melanoma
  JOURNAL   Pol J Pathol 72 (3), 237-244 (2021)
   PUBMED   35048636
  REMARK    GeneRIF: Kindlin-3 and RASSF6 are probable biomarkers for
            predicting metastasis in cutaneous melanoma.
REFERENCE   5  (residues 1 to 303)
  AUTHORS   Zheng L, Zhao Z, Rong L, Xue L and Song Y.
  TITLE     RASSF6-TRIM16 axis promotes cell proliferation, migration and
            invasion in esophageal squamous cell carcinoma
  JOURNAL   J Genet Genomics 46 (10), 477-488 (2019)
   PUBMED   31812473
  REMARK    GeneRIF: The results indicate that the RASSF6-TRIM16 axis is a key
            effector in ESCC progression and that RASSF6 serves as a potential
            target for the treatment of ESCC.
REFERENCE   6  (residues 1 to 303)
  AUTHORS   Hesson LB, Dunwell TL, Cooper WN, Catchpoole D, Brini AT,
            Chiaramonte R, Griffiths M, Chalmers AD, Maher ER and Latif F.
  TITLE     The novel RASSF6 and RASSF10 candidate tumour suppressor genes are
            frequently epigenetically inactivated in childhood leukaemias
  JOURNAL   Mol Cancer 8, 42 (2009)
   PUBMED   19570220
  REMARK    GeneRIF: Sequencing revealed RASSF6 and RASSF10 were the only RASSF
            members with a high frequency of leukaemia-specific methylation.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 303)
  AUTHORS   Hillian AD, Londono D, Dunn JM, Goddard KA, Pace RG, Knowles MR and
            Drumm ML.
  CONSRTM   CF Gene Modifier Study Group
  TITLE     Modulation of cystic fibrosis lung disease by variants in
            interleukin-8
  JOURNAL   Genes Immun 9 (6), 501-508 (2008)
   PUBMED   18563170
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 303)
  AUTHORS   Allen NP, Donninger H, Vos MD, Eckfeld K, Hesson L, Gordon L,
            Birrer MJ, Latif F and Clark GJ.
  TITLE     RASSF6 is a novel member of the RASSF family of tumor suppressors
  JOURNAL   Oncogene 26 (42), 6203-6211 (2007)
   PUBMED   17404571
  REMARK    GeneRIF: Demonstrates properties of a Ras effector and tumor
            suppressor but exhibits biological properties that are unique and
            distinct from those of other family members.
REFERENCE   9  (residues 1 to 303)
  AUTHORS   Ikeda M, Hirabayashi S, Fujiwara N, Mori H, Kawata A, Iida J, Bao
            Y, Sato Y, Iida T, Sugimura H and Hata Y.
  TITLE     Ras-association domain family protein 6 induces apoptosis via both
            caspase-dependent and caspase-independent pathways
  JOURNAL   Exp Cell Res 313 (7), 1484-1495 (2007)
   PUBMED   17367779
  REMARK    GeneRIF: These findings indicate that RASSF6 is implicated in
            apoptosis in HeLa cells and that it triggers both caspase-dependent
            and caspase-independent pathways.
REFERENCE   10 (residues 1 to 303)
  AUTHORS   Hull J, Rowlands K, Lockhart E, Sharland M, Moore C, Hanchard N and
            Kwiatkowski DP.
  TITLE     Haplotype mapping of the bronchiolitis susceptibility locus near
            IL8
  JOURNAL   Hum Genet 114 (3), 272-279 (2004)
   PUBMED   14605870
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC074250.6.
            
            Summary: This gene encodes a member of the Ras-association domain
            family (RASSF). Members of this family form the core of a highly
            conserved tumor suppressor network, the Salvador-Warts-Hippo (SWH)
            pathway. The protein encoded by this gene is a Ras effector protein
            that induces apoptosis. A genomic region containing this gene has
            been linked to susceptibility to viral bronchiolitis. Alternative
            splicing results in multiple transcript variants and protein
            isoforms. [provided by RefSeq, Jul 2012].
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            exon compared to variant 1. It encodes isoform c which is shorter
            than isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC058835.1, SRR7346977.1058375.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..303
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     Protein         1..303
                     /product="ras association domain-containing protein 6
                     isoform c"
                     /note="Ras association (RalGDS/AF-6) domain family 6;
                     putative RAS binding protein; ras association
                     domain-containing protein 6; Ras association (RalGDS/AF-6)
                     domain family member 6"
                     /calculated_mol_wt=35678
     Region          <189..239
                     /region_name="Ubl1_cv_Nsp3_N-like"
                     /note="first ubiquitin-like (Ubl) domain located at the
                     N-terminus of coronavirus SARS-CoV non-structural protein
                     3 (Nsp3) and related proteins; cl28922"
                     /db_xref="CDD:452900"
     Region          249..294
                     /region_name="SARAH_RASSF6"
                     /note="C-terminal SARAH domain found in Ras-association
                     domain-containing protein 6 (RASSF6); cd21895"
                     /db_xref="CDD:439189"
     Site            order(250..251,253,255,258,262,265..266,268..269,272..273,
                     276..277,279..280,283..284,287,290..291)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:439189"
     CDS             1..303
                     /gene="RASSF6"
                     /coded_by="NM_001270391.2:184..1095"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS58904.1"
                     /db_xref="GeneID:166824"
                     /db_xref="HGNC:HGNC:20796"
                     /db_xref="MIM:612620"
ORIGIN      
        1 mtmmahqyps wifinektfi treqlnsllk tynifyenqk nlhilygete dgklivegml
       61 difwgvkrpi qlkiqdekpf ssftsmkssd vfsskgmtrw gefddlyris eldrtqipms
      121 ekrnsqedyl syhsntlkph akdepdspvl yrtmseaalv rkrmkplmmd rkerqknras
      181 inghfynhei enspqdfalh iifatgeqrr lkktdipllq rllqgpsekn ariflmdkda
      241 eeissdvaqy infhfslles ilqrlneeek reiqrivtkf nkekaiilkc lqnklvikte
      301 ttv
//
LOCUS       NP_001275590             570 aa            linear   PRI 16-MAR-2023
DEFINITION  dihydropyrimidinase-related protein 1 isoform 3 [Homo sapiens].
ACCESSION   NP_001275590 XP_005248001
VERSION     NP_001275590.1
DBSOURCE    REFSEQ: accession NM_001288661.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 570)
  AUTHORS   Ravindran E, Arashiki N, Becker LL, Takizawa K, Levy J, Rambaud T,
            Makridis KL, Goshima Y, Li N, Vreeburg M, Demeer B, Dickmanns A,
            Stegmann APA, Hu H, Nakamura F and Kaindl AM.
  TITLE     Monoallelic CRMP1 gene variants cause neurodevelopmental disorder
  JOURNAL   Elife 11, e80793 (2022)
   PUBMED   36511780
  REMARK    GeneRIF: Monoallelic CRMP1 gene variants cause neurodevelopmental
            disorder.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 570)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 570)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 570)
  AUTHORS   Huang L, Li Y, Wang C, Li N, Hou Y, Chang R, Sun M, Wang R, Zhu L
            and Qiao C.
  TITLE     Overexpression of Collapsin Response Mediator Protein 1 Inhibits
            Human Trophoblast Cells Proliferation, Migration, and Invasion
  JOURNAL   Reprod Sci 26 (7), 954-960 (2019)
   PUBMED   30466368
  REMARK    GeneRIF: CRMP-1 might have implications for the pathogenesis of
            preeclampsia by regulating the biological behavior of trophoblast
            cells.
REFERENCE   5  (residues 1 to 570)
  AUTHORS   McLean CK, Narayan S, Lin SY, Rai N, Chung Y, Hipolito MS, Cascella
            NG, Nurnberger JI Jr, Ishizuka K, Sawa AS and Nwulia EA.
  TITLE     Lithium-associated transcriptional regulation of CRMP1 in
            patient-derived olfactory neurons and symptom changes in bipolar
            disorder
  JOURNAL   Transl Psychiatry 8 (1), 81 (2018)
   PUBMED   29666369
  REMARK    GeneRIF: Study provides a novel insight into the relevance of
            collapsin response mediator protein 1, a key molecule in
            semaphorin-3A signaling during neurodevelopment, in the molecular
            mechanism of action of lithium, and in the pathophysiology of
            bipolar disorder.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 570)
  AUTHORS   Shih JY, Lee YC, Yang SC, Hong TM, Huang CY and Yang PC.
  TITLE     Collapsin response mediator protein-1: a novel invasion-suppressor
            gene
  JOURNAL   Clin Exp Metastasis 20 (1), 69-76 (2003)
   PUBMED   12650609
  REMARK    GeneRIF: Collapsin response mediator protein-1: a novel
            invasion-suppressor gene.
            Review article
REFERENCE   7  (residues 1 to 570)
  AUTHORS   Leung T, Ng Y, Cheong A, Ng CH, Tan I, Hall C and Lim L.
  TITLE     p80 ROKalpha binding protein is a novel splice variant of CRMP-1
            which associates with CRMP-2 and modulates RhoA-induced neuronal
            morphology
  JOURNAL   FEBS Lett 532 (3), 445-449 (2002)
   PUBMED   12482610
  REMARK    GeneRIF: CRMP-1 and CRMP-2 have a role in RhoA-dependent signaling,
            through interaction with and regulation of ROKalpha
REFERENCE   8  (residues 1 to 570)
  AUTHORS   Shih JY, Yang SC, Hong TM, Yuan A, Chen JJ, Yu CJ, Chang YL, Lee
            YC, Peck K, Wu CW and Yang PC.
  TITLE     Collapsin response mediator protein-1 and the invasion and
            metastasis of cancer cells
  JOURNAL   J Natl Cancer Inst 93 (18), 1392-1400 (2001)
   PUBMED   11562390
REFERENCE   9  (residues 1 to 570)
  AUTHORS   Torres R and Polymeropoulos MH.
  TITLE     Genomic organization and localization of the human CRMP-1 gene
  JOURNAL   DNA Res 5 (6), 393-395 (1998)
   PUBMED   10048489
REFERENCE   10 (residues 1 to 570)
  AUTHORS   Hamajima N, Matsuda K, Sakata S, Tamaki N, Sasaki M and Nonaka M.
  TITLE     A novel gene family defined by human dihydropyrimidinase and three
            related proteins with differential tissue distribution
  JOURNAL   Gene 180 (1-2), 157-163 (1996)
   PUBMED   8973361
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA184461.1, BC009987.1,
            BC000252.1 and BC007898.2.
            On Dec 27, 2013 this sequence version replaced XP_005248001.1.
            
            Summary: This gene encodes a member of a family of cytosolic
            phosphoproteins expressed exclusively in the nervous system. The
            encoded protein is thought to be a part of the semaphorin signal
            transduction pathway implicated in semaphorin-induced growth cone
            collapse during neural development. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) contains an alternate 5' exon,
            compared to variant 1. It differs in the 5' UTR and initiates
            translation at an alternate downstream AUG resulting in a protein
            (isoform 3) with a shorter N-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.117736.1,
                                           SRR1803611.175767.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..570
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.2"
     Protein         1..570
                     /product="dihydropyrimidinase-related protein 1 isoform 3"
                     /note="dihydropyrimidinase-like 1;
                     dihydropyrimidinase-related protein 1; unc-33-like
                     phosphoprotein 3; inactive dihydropyrimidinase"
                     /calculated_mol_wt=61899
     Region          15..464
                     /region_name="D-HYD"
                     /note="D-hydantoinases (D-HYD) also called
                     dihydropyrimidases (DHPase) and related proteins; DHPases
                     are a family of enzymes that catalyze the reversible
                     hydrolytic ring opening of the amide bond in five- or
                     six-membered cyclic diamides, like dihydropyrimidine...;
                     cd01314"
                     /db_xref="CDD:238639"
     Site            order(26..27,29,42..43,178,199,202,205,228,232,236,239,
                     266..267,269..270,388,393,398)
                     /site_type="other"
                     /note="tetramer interface [polypeptide binding]"
                     /db_xref="CDD:238639"
     Site            order(71,73,163,196,252,330)
                     /site_type="active"
                     /db_xref="CDD:238639"
     CDS             1..570
                     /gene="CRMP1"
                     /gene_synonym="CRMP-1; DPYSL1; DRP-1; DRP1; ULIP-3"
                     /coded_by="NM_001288661.2:565..2277"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS75102.1"
                     /db_xref="GeneID:1400"
                     /db_xref="HGNC:HGNC:2365"
                     /db_xref="MIM:602462"
ORIGIN      
        1 mqkmnnevvd ksdrllikgg riinddqsly advyledgli kqigenlivp ggvktieang
       61 rmvipggidv ntylqkpsqg mtaaddffqg traalvggtt miidhvvpep gsslltsfek
      121 wheaadtksc cdyslhvdit swydgvreel evlvqdkgvn sfqvymaykd vyqmsdsqly
      181 eaftflkglg avilvhaeng dliaqeqkri lemgitgpeg halsrpeele aeavfraiti
      241 agrincpvyi tkvmsksaad iialarkkgp lvfgepiaas lgtdgthyws knwakaaafv
      301 tspplspdpt tpdyltslla cgdlqvtgsg hcpystaqka vgkdnftlip egvngieerm
      361 tvvwdkavat gkmdenqfva vtstnaakif nlyprkgria vgsdadvviw dpdklktita
      421 kshksaveyn ifegmechgs plvvisqgki vfedgninvn kgmgrfiprk afpehlyqrv
      481 kirnkvfglq gvsrgmydgp vyevpatpky atpapsakss pskhqpppir nlhqsnfsls
      541 gaqiddnnpr rtghrivapp ggrsnitslg
//
LOCUS       NP_001363404             377 aa            linear   PRI 16-MAR-2023
DEFINITION  membrane protein MLC1 isoform 1 [Homo sapiens].
ACCESSION   NP_001363404
VERSION     NP_001363404.1
DBSOURCE    REFSEQ: accession NM_001376475.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 377)
  AUTHORS   Khalaf-Nazzal R, Dweikat I, Maree M, Alawneh M, Barahmeh M, Doulani
            RT, Qrareya M, Qadi M and Dudin A.
  TITLE     Prevalent MLC1 mutation causing autosomal recessive megalencephalic
            leukoencephalopathy in consanguineous Palestinian families
  JOURNAL   Brain Dev 44 (7), 454-461 (2022)
   PUBMED   35440380
  REMARK    GeneRIF: Prevalent MLC1 mutation causing autosomal recessive
            megalencephalic leukoencephalopathy in consanguineous Palestinian
            families.
REFERENCE   2  (residues 1 to 377)
  AUTHORS   Ain Ul Batool S, Almatrafi A, Fadhli F, Alluqmani M, Sadia, Ali G
            and Basit S.
  TITLE     A homozygous missense variant in the MLC1 gene underlies
            megalencephalic leukoencephalopathy with subcortical cysts in large
            kindred: Heterozygous carriers show seizure and mild motor function
            deterioration
  JOURNAL   Am J Med Genet A 188 (4), 1075-1082 (2022)
   PUBMED   34918859
  REMARK    GeneRIF: A homozygous missense variant in the MLC1 gene underlies
            megalencephalic leukoencephalopathy with subcortical cysts in large
            kindred: Heterozygous carriers show seizure and mild motor function
            deterioration.
REFERENCE   3  (residues 1 to 377)
  AUTHORS   Hwang J, Park K, Lee GY, Yoon BY, Kim H, Roh SH, Lee BC, Kim K and
            Lim HH.
  TITLE     Transmembrane topology and oligomeric nature of an astrocytic
            membrane protein, MLC1
  JOURNAL   Open Biol 11 (12), 210103 (2021)
   PUBMED   34847774
  REMARK    GeneRIF: Transmembrane topology and oligomeric nature of an
            astrocytic membrane protein, MLC1.
REFERENCE   4  (residues 1 to 377)
  AUTHORS   Lattier JM, De A, Chen Z, Morales JE, Lang FF, Huse JT and McCarty
            JH.
  TITLE     Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1)
            promotes glioblastoma cell invasion in the brain microenvironment
  JOURNAL   Oncogene 39 (50), 7253-7264 (2020)
   PUBMED   33040087
  REMARK    GeneRIF: Megalencephalic leukoencephalopathy with subcortical cysts
            1 (MLC1) promotes glioblastoma cell invasion in the brain
            microenvironment.
REFERENCE   5  (residues 1 to 377)
  AUTHORS   Meyer J, Huberth A, Ortega G, Syagailo YV, Jatzke S, Mossner R,
            Strom TM, Ulzheimer-Teuber I, Stober G, Schmitt A and Lesch KP.
  TITLE     A missense mutation in a novel gene encoding a putative cation
            channel is associated with catatonic schizophrenia in a large
            pedigree
  JOURNAL   Mol Psychiatry 6 (3), 302-306 (2001)
   PUBMED   11326298
REFERENCE   6  (residues 1 to 377)
  AUTHORS   Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Konst AA, Boor
            PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB,
            Schutgens RB, Pronk JC and van der Knaap MS.
  TITLE     Mutations of MLC1 (KIAA0027), encoding a putative membrane protein,
            cause megalencephalic leukoencephalopathy with subcortical cysts
  JOURNAL   Am J Hum Genet 68 (4), 831-838 (2001)
   PUBMED   11254442
REFERENCE   7  (residues 1 to 377)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   8  (residues 1 to 377)
  AUTHORS   Kawai T, Nomura F, Hoshino K, Copeland NG, Gilbert DJ, Jenkins NA
            and Akira S.
  TITLE     Death-associated protein kinase 2 is a new
            calcium/calmodulin-dependent protein kinase that signals apoptosis
            through its catalytic activity
  JOURNAL   Oncogene 18 (23), 3471-3480 (1999)
   PUBMED   10376525
REFERENCE   9  (residues 1 to 377)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   10 (residues 1 to 377)
  AUTHORS   van der Knaap,M.S., Abbink,T.E.M. and Min,R.
  TITLE     Megalencephalic Leukoencephalopathy with Subcortical Cysts
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301707
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL022327.17.
            
            Summary: The function of this gene product is unknown; however,
            homology to other proteins suggests that it may be an integral
            membrane transporter. Mutations in this gene have been associated
            with megalencephalic leukoencephalopathy with subcortical cysts, an
            autosomal recessive neurological disorder. Alternatively spliced
            transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.53972.1,
                                           SRR1803617.247501.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..377
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     Protein         1..377
                     /product="membrane protein MLC1 isoform 1"
                     /note="membrane protein MLC1; megalencephalic
                     leukoencephalopathy with subcortical cysts 1"
                     /calculated_mol_wt=41010
     Region          1..36
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15049.5)"
     Site            52..72
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15049.5)"
     Site            82..100
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15049.5)"
     Site            111..131
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15049.5)"
     Site            144..164
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15049.5)"
     Site            177
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VHK5; propagated from
                     UniProtKB/Swiss-Prot (Q15049.5)"
     Site            179
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VHK5; propagated from
                     UniProtKB/Swiss-Prot (Q15049.5)"
     Site            199..219
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15049.5)"
     Site            230..250
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15049.5)"
     Site            257..277
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15049.5)"
     Site            304..324
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15049.5)"
     CDS             1..377
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /coded_by="NM_001376475.1:289..1422"
                     /note="isoform 1 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS14083.1"
                     /db_xref="GeneID:23209"
                     /db_xref="HGNC:HGNC:17082"
                     /db_xref="MIM:605908"
ORIGIN      
        1 mtqepfreel aydrmptler grqdpasyap dakpsdlqls krlppcfshk twvfsvlmgs
       61 cllvtsgfsl ylgnvfpaem dylrcaagsc ipsaivsftv srrnanvipn fqilfvstfa
      121 vtttcliwfg cklvlnpsai ninfnlilll llellmaatv iiaarsseed ckkkkgsmsd
      181 sanildevpf parvlksysv veviagisav lggiialnvd dsvsgphlsv tffwilvacf
      241 psaiashvaa ecpskclvev liaissltsp llftasgyls fsimrivemf kdyppaikps
      301 ydvlllllll vlllqaglnt gtaiqcvrfk vsarlqgasw dtqngpqerl agevarsplk
      361 efdkekawra vvvqmaq
//
LOCUS       NP_001675               1205 aa            linear   PRI 17-MAR-2023
DEFINITION  plasma membrane calcium-transporting ATPase 4 isoform 4b [Homo
            sapiens].
ACCESSION   NP_001675
VERSION     NP_001675.3
DBSOURCE    REFSEQ: accession NM_001684.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1205)
  AUTHORS   Thiam A, Nisar S, Adjemout M, Gallardo F, Ka O, Mbengue B, Diop G,
            Dieye A, Marquet S and Rihet P.
  TITLE     ATP2B4 regulatory genetic variants are associated with mild malaria
  JOURNAL   Malar J 22 (1), 68 (2023)
   PUBMED   36849945
  REMARK    GeneRIF: ATP2B4 regulatory genetic variants are associated with
            mild malaria.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1205)
  AUTHORS   Joof F, Hartmann E, Jarvis A, Colley A, Cross JH, Avril M, Prentice
            AM and Cerami C.
  TITLE     Genetic variations in human ATP2B4 gene alter Plasmodium falciparum
            in vitro growth in RBCs from Gambian adults
  JOURNAL   Malar J 22 (1), 5 (2023)
   PUBMED   36604655
  REMARK    GeneRIF: Genetic variations in human ATP2B4 gene alter Plasmodium
            falciparum in vitro growth in RBCs from Gambian adults.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1205)
  AUTHORS   Nisar S, Torres M, Thiam A, Pouvelle B, Rosier F, Gallardo F, Ka O,
            Mbengue B, Diallo RN, Brosseau L, Spicuglia S, Dieye A, Marquet S
            and Rihet P.
  TITLE     Identification of ATP2B4 Regulatory Element Containing Functional
            Genetic Variants Associated with Severe Malaria
  JOURNAL   Int J Mol Sci 23 (9), 4849 (2022)
   PUBMED   35563239
  REMARK    GeneRIF: Identification of ATP2B4 Regulatory Element Containing
            Functional Genetic Variants Associated with Severe Malaria.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1205)
  AUTHORS   Wang M, Silva T, Toothaker JM, McCourt BT, Shugrue C, Desir G,
            Gorelick F and Konnikova L.
  TITLE     Renalase and its receptor, PMCA4b, are expressed in the placenta
            throughout the human gestation
  JOURNAL   Sci Rep 12 (1), 4953 (2022)
   PUBMED   35322081
  REMARK    GeneRIF: Renalase and its receptor, PMCA4b, are expressed in the
            placenta throughout the human gestation.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1205)
  AUTHORS   Xu X, Wang B, Chen Y, Zhou W and Li L.
  TITLE     Replicative verification of susceptibility genes previously
            identified from families with segregating developmental dysplasia
            of the hip
  JOURNAL   Ital J Pediatr 47 (1), 140 (2021)
   PUBMED   34174923
  REMARK    GeneRIF: Replicative verification of susceptibility genes
            previously identified from families with segregating developmental
            dysplasia of the hip.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1205)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   7  (residues 1 to 1205)
  AUTHORS   Heim R, Hug M, Iwata T, Strehler EE and Carafoli E.
  TITLE     Microdiversity of human-plasma-membrane calcium-pump isoform 2
            generated by alternative RNA splicing in the N-terminal coding
            region
  JOURNAL   Eur J Biochem 205 (1), 333-340 (1992)
   PUBMED   1313367
REFERENCE   8  (residues 1 to 1205)
  AUTHORS   Brandt P, Neve RL, Kammesheidt A, Rhoads RE and Vanaman TC.
  TITLE     Analysis of the tissue-specific distribution of mRNAs encoding the
            plasma membrane calcium-pumping ATPases and characterization of an
            alternately spliced form of PMCA4 at the cDNA and genomic levels
  JOURNAL   J Biol Chem 267 (7), 4376-4385 (1992)
   PUBMED   1531651
REFERENCE   9  (residues 1 to 1205)
  AUTHORS   Olson S, Wang MG, Carafoli E, Strehler EE and McBride OW.
  TITLE     Localization of two genes encoding plasma membrane
            Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and
            12q21-23
  JOURNAL   Genomics 9 (4), 629-641 (1991)
   PUBMED   1674727
REFERENCE   10 (residues 1 to 1205)
  AUTHORS   Strehler EE, James P, Fischer R, Heim R, Vorherr T, Filoteo AG,
            Penniston JT and Carafoli E.
  TITLE     Peptide sequence analysis and molecular cloning reveal two calcium
            pump isoforms in the human erythrocyte membrane
  JOURNAL   J Biol Chem 265 (5), 2835-2842 (1990)
   PUBMED   2137451
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL706212.1, DN997129.1,
            M25874.1, BF985985.1, AC114402.2 and AW888226.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 4, 2004 this sequence version replaced NP_001675.2.
            
            Summary: The protein encoded by this gene belongs to the family of
            P-type primary ion transport ATPases characterized by the formation
            of an aspartyl phosphate intermediate during the reaction cycle.
            These enzymes remove bivalent calcium ions from eukaryotic cells
            against very large concentration gradients and play a critical role
            in intracellular calcium homeostasis. The mammalian plasma membrane
            calcium ATPase isoforms are encoded by at least four separate genes
            and the diversity of these enzymes is further increased by
            alternative splicing of transcripts. The expression of different
            isoforms and splice variants is regulated in a developmental,
            tissue- and cell type-specific manner, suggesting that these pumps
            are functionally adapted to the physiological needs of particular
            cells and tissues. This gene encodes the plasma membrane calcium
            ATPase isoform 4. Alternatively spliced transcript variants
            encoding different isoforms have been identified. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an alternate coding exon
            compared to variant 1, that causes a frameshift. The resulting
            isoform (4b) has a longer and distinct C-terminus compared to
            isoform 4a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX537444.1, CR749393.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357681.10/ ENSP00000350310.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     Protein         1..1205
                     /product="plasma membrane calcium-transporting ATPase 4
                     isoform 4b"
                     /EC_number="7.2.2.10"
                     /note="sarcolemmal calcium pump; plasma membrane
                     calcium-transporting ATPase 4; ATPase, Ca++ transporting,
                     plasma membrane 4; matrix-remodeling-associated protein 1"
                     /calculated_mol_wt=133800
     Region          20..1052
                     /region_name="ATPase-IIB_Ca"
                     /note="plasma-membrane calcium-translocating P-type
                     ATPase; TIGR01517"
                     /db_xref="CDD:273668"
     Region          1089..1135
                     /region_name="ATP_Ca_trans_C"
                     /note="Plasma membrane calcium transporter ATPase C
                     terminal; pfam12424"
                     /db_xref="CDD:432545"
     CDS             1..1205
                     /gene="ATP2B4"
                     /gene_synonym="ATP2B2; MXRA1; PMCA4; PMCA4b; PMCA4x"
                     /coded_by="NM_001684.5:853..4470"
                     /note="isoform 4b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS1440.1"
                     /db_xref="GeneID:493"
                     /db_xref="HGNC:HGNC:817"
                     /db_xref="MIM:108732"
ORIGIN      
        1 mtnpsdrvlp ansmaesreg dfgctvmelr klmelrsrda ltqinvhygg vqnlcsrlkt
       61 spveglsgnp adlekrrqvf ghnvippkkp ktflelvwea lqdvtliile iaaiislvls
      121 fyrpageene lcgqvattpe deneaqagwi egaailfsvi ivvlvtafnd wskekqfrgl
      181 qcrieqeqkf siirngqliq lpvaeivvgd iaqvkygdll padgiliqgn dlkidesslt
      241 gesdhvkksl dkdpmllsgt hvmegsgrmv vtavgvnsqt giiltllgvn eddegekkkk
      301 gkkqgvpenr nkaktqdgva leiqplnsqe gidneekdkk avkvpkkeks vlqgkltrla
      361 vqigkagllm saltvfilil yfvidnfvin rrpwlpectp iyiqyfvkff iigitvlvva
      421 vpeglplavt islaysvkkm mkdnnlvrhl dacetmgnat aicsdktgtl tmnrmtvvqa
      481 yiggihyrqi pspdvflpkv ldlivngisi nsaytskilp pekegglprq vgnktecall
      541 gfvtdlkqdy qavrnevpee klykvytfns vrksmstvir npnggfrmys kgaseiilrk
      601 cnrildrkge avpfknkdrd dmvrtviepm acdglrtici ayrdfddtep swdneneilt
      661 eltciavvgi edpvrpevpd aiakckqagi tvrmvtgdni ntaraiatkc giltpgddfl
      721 clegkefnrl irnekgeveq ekldkiwpkl rvlarssptd khtlvkgiid stvgehrqvv
      781 avtgdgtndg palkkadvgf amgiagtdva keasdiiltd dnftsivkav mwgrnvydsi
      841 skflqfqltv nvvavivaft gacitqdspl kavqmlwvnl imdtfaslal atepptesll
      901 krrpygrnkp lisrtmmkni lghafyqliv ifilvfagek ffdidsgrka plhsppsqhy
      961 tivfntfvlm qlfneinsrk ihgeknvfsg iyrniifcsv vlgtficqif ivefggkpfs
     1021 ctslslsqwl wclfigigel lwgqfisaip trslkflkea ghgttkeeit kdaegldeid
     1081 haemelrrgq ilwfrglnri qtqikvvkaf hsslhesiqk pynqksihsf mthpefaiee
     1141 elprtpllde eeeenpdkas kfgtrvllld gevtpyantn nnavdcnqvq lpqsdsslqs
     1201 letsv
//
LOCUS       NP_008877               2390 aa            linear   PRI 18-MAR-2023
DEFINITION  spectrin beta chain, non-erythrocytic 2 isoform 1 [Homo sapiens].
ACCESSION   NP_008877 XP_005274249
VERSION     NP_008877.2
DBSOURCE    REFSEQ: accession NM_006946.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2390)
  AUTHORS   Zhou X, Lin L, Qi Y, Xu M, Xu Q, Wang Y and Qu J.
  TITLE     SPTBN2 Promotes the Progression of Thyroid Cancer by Accelerating
            G1/S Transition and Inhibiting Apoptosis
  JOURNAL   Dis Markers 2022, 2562595 (2022)
   PUBMED   35968508
  REMARK    GeneRIF: SPTBN2 Promotes the Progression of Thyroid Cancer by
            Accelerating G1/S Transition and Inhibiting Apoptosis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 2390)
  AUTHORS   Bian X, Wang S, Jin S, Xu S, Zhang H, Wang D, Shang W and Wang P.
  TITLE     Two novel missense variants in SPTBN2 likely associated with
            spinocerebellar ataxia type 5
  JOURNAL   Neurol Sci 42 (12), 5195-5203 (2021)
   PUBMED   33797620
  REMARK    GeneRIF: Two novel missense variants in SPTBN2 likely associated
            with spinocerebellar ataxia type 5.
REFERENCE   3  (residues 1 to 2390)
  AUTHORS   Sancho P, Andres-Borderia A, Gorria-Redondo N, Llano K,
            Martinez-Rubio D, Yoldi-Petri ME, Blumkin L, Rodriguez de la Fuente
            P, Gil-Ortiz F, Fernandez-Murga L, Sanchez-Monteagudo A, Lupo V,
            Perez-Duenas B, Espinos C and Aguilera-Albesa S.
  TITLE     Expanding the beta-III Spectrin-Associated Phenotypes toward
            Non-Progressive Congenital Ataxias with Neurodegeneration
  JOURNAL   Int J Mol Sci 22 (5), 2505 (2021)
   PUBMED   33801522
  REMARK    GeneRIF: Expanding the beta-III Spectrin-Associated Phenotypes
            toward Non-Progressive Congenital Ataxias with Neurodegeneration.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 2390)
  AUTHORS   Perkins E, Suminaite D and Jackson M.
  TITLE     Cerebellar ataxias: beta-III spectrin's interactions suggest common
            pathogenic pathways
  JOURNAL   J Physiol 594 (16), 4661-4676 (2016)
   PUBMED   26821241
  REMARK    Review article
REFERENCE   5  (residues 1 to 2390)
  AUTHORS   Zhang R, Zhang C, Zhao Q and Li D.
  TITLE     Spectrin: structure, function and disease
  JOURNAL   Sci China Life Sci 56 (12), 1076-1085 (2013)
   PUBMED   24302288
  REMARK    Review article
REFERENCE   6  (residues 1 to 2390)
  AUTHORS   De Matteis MA and Morrow JS.
  TITLE     Spectrin tethers and mesh in the biosynthetic pathway
  JOURNAL   J Cell Sci 113 (Pt 13), 2331-2343 (2000)
   PUBMED   10852813
  REMARK    Review article
REFERENCE   7  (residues 1 to 2390)
  AUTHORS   Stankewich MC, Tse WT, Peters LL, Ch'ng Y, John KM, Stabach PR,
            Devarajan P, Morrow JS and Lux SE.
  TITLE     A widely expressed betaIII spectrin associated with Golgi and
            cytoplasmic vesicles
  JOURNAL   Proc Natl Acad Sci U S A 95 (24), 14158-14163 (1998)
   PUBMED   9826670
REFERENCE   8  (residues 1 to 2390)
  AUTHORS   Ohara O, Ohara R, Yamakawa H, Nakajima D and Nakayama M.
  TITLE     Characterization of a new beta-spectrin gene which is predominantly
            expressed in brain
  JOURNAL   Brain Res Mol Brain Res 57 (2), 181-192 (1998)
   PUBMED   9675416
REFERENCE   9  (residues 1 to 2390)
  AUTHORS   Ranum LP, Schut LJ, Lundgren JK, Orr HT and Livingston DM.
  TITLE     Spinocerebellar ataxia type 5 in a family descended from the
            grandparents of President Lincoln maps to chromosome 11
  JOURNAL   Nat Genet 8 (3), 280-284 (1994)
   PUBMED   7874171
REFERENCE   10 (residues 1 to 2390)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001157.4 and AB008567.1.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Dec 17, 2019 this sequence version replaced
            XP_005274249.1, NP_008877.1.
            
            Summary: Spectrins are principle components of a cell's
            membrane-cytoskeleton and are composed of two alpha and two beta
            spectrin subunits. The protein encoded by this gene (SPTBN2), is
            called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is
            related to, but distinct from, the beta-II spectrin gene which is
            also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2
            regulates the glutamate signaling pathway by stabilizing the
            glutamate transporter EAAT4 at the surface of the plasma membrane.
            Mutations in this gene cause a form of spinocerebellar ataxia,
            SCA5, that is characterized by neurodegeneration, progressive
            locomotor incoordination, dysarthria, and uncoordinated eye
            movements. [provided by RefSeq, Dec 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3880190.1,
                                           SRR14372079.1992859.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000533211.6/ ENSP00000432568.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2390
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     Protein         1..2390
                     /product="spectrin beta chain, non-erythrocytic 2 isoform
                     1"
                     /note="spectrin beta chain, brain 2; beta-III spectrin;
                     glutamate transporter EAAT4-associated protein 41;
                     spectrin, non-erythroid beta chain 2; spinocerebellar
                     ataxia 5 protein; spectrin beta chain, non-erythrocytic 2;
                     spectrin beta III sigma 2"
                     /calculated_mol_wt=271195
     Region          2..278
                     /region_name="Actin-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O15020.3)"
     Site            6
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QWN8; propagated from
                     UniProtKB/Swiss-Prot (O15020.3)"
     Site            31
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O15020.3)"
     Region          43..159
                     /region_name="CH_SPTB-like_rpt1"
                     /note="first calponin homology (CH) domain found in the
                     beta-I spectrin-like subfamily; cd21246"
                     /db_xref="CDD:409095"
     Site            order(44,47..48,51..52,55..56,59,113,116..117,120,127,
                     132..140,147..148,150..151,154..155,158..159)
                     /site_type="other"
                     /note="actin binding site [polypeptide binding]"
                     /db_xref="CDD:409095"
     Region          173..291
                     /region_name="CH_SPTBN2_rpt2"
                     /note="second calponin homology (CH) domain found in
                     spectrin beta chain, non-erythrocytic 2 (SPTBN2) and
                     similar proteins; cd21321"
                     /db_xref="CDD:409170"
     Site            order(178,182,232,234..235,238,245,250..258,267..268,
                     270..271,274..275,278)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409170"
     Region          305..414
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Region          306..414
                     /region_name="Spectrin 1. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Site            416..421
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          427..527
                     /region_name="Spectrin 2. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Region          429..522
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Region          532..639
                     /region_name="Spectrin 3. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Region          534..746
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            640..645
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          642..744
                     /region_name="Spectrin 4. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Region          749..958
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          749..849
                     /region_name="Spectrin 5. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Site            851..856
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          855..954
                     /region_name="Spectrin 6. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Site            959
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O15020.3)"
     Region          960..1063
                     /region_name="Spectrin 7. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Region          961..1172
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1064..1069
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1066..1169
                     /region_name="Spectrin 8. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Site            1073
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O15020.3)"
     Region          1174..1383
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          1174..1262
                     /region_name="Spectrin 9. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Site            1277..1282
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1279..1379
                     /region_name="Spectrin 10. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Region          1384..1588
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          1384..1485
                     /region_name="Spectrin 11. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Site            1487..1492
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1489..1586
                     /region_name="Spectrin 12. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Region          1589..1801
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          1589..1692
                     /region_name="Spectrin 13. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Site            1693..1698
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1696..1797
                     /region_name="Spectrin 14. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Region          1801..1904
                     /region_name="Spectrin 15. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Region          1802..2010
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1906..1911
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1910..2010
                     /region_name="Spectrin 16. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Region          2017..2076
                     /region_name="Spectrin 17. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Region          2018..>2075
                     /region_name="SPEC"
                     /note="Spectrin repeats; smart00150"
                     /db_xref="CDD:197544"
     Region          2081..2222
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Region          <2097..>2241
                     /region_name="dnaA"
                     /note="chromosomal replication initiator protein DnaA;
                     cl42516"
                     /db_xref="CDD:455861"
     Site            2171
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Site            2199
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QWN8; propagated from
                     UniProtKB/Swiss-Prot (O15020.3)"
     Region          2221..2324
                     /region_name="PH_beta_spectrin"
                     /note="Beta-spectrin pleckstrin homology (PH) domain;
                     cd10571"
                     /db_xref="CDD:269975"
     Site            order(2228,2241..2243,2289)
                     /site_type="other"
                     /note="non-cannonical phosphoinositide binding site
                     [chemical binding]"
                     /db_xref="CDD:269975"
     Region          2331..2390
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15020.3)"
     Site            2354
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O15020.3)"
     Site            2359
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O15020.3)"
     CDS             1..2390
                     /gene="SPTBN2"
                     /gene_synonym="GTRAP41; SCA5; SCAR14"
                     /coded_by="NM_006946.4:590..7762"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS8150.1"
                     /db_xref="GeneID:6712"
                     /db_xref="HGNC:HGNC:11276"
                     /db_xref="MIM:604985"
ORIGIN      
        1 msstlsptdf dsleiqgqys dinnrwdlpd sdwdndsssa rlfersrika ladereavqk
       61 ktftkwvnsh larvtcrvgd lysdlrdgrn llrllevlsg eilpkptkgr mrihclenvd
      121 kalqflkeqk vhlenmgshd ivdgnhrltl glvwtiilrf qiqdisvete dnkekksakd
      181 alllwcqmkt agypnvnvhn fttswrdgla fnaivhkhrp dlldfeslkk cnahynlqna
      241 fnlaekelgl tklldpedvn vdqpdeksii tyvatyyhyf skmkalaveg krigkvldha
      301 meaerlveky eslasellqw ieqtivtlnd rqlanslsgv qnqlqsfnsy rtvekppkft
      361 ekgnlevllf tiqsklrann qkvytpregr lisdinkawe rlekaehere lalrtelirq
      421 ekleqlaarf drkaamretw lsenqrlvsq dnfglelaav eaavrkheai etdivaysgr
      481 vqavdavaae laaeryhdik riaarqhnva rlwdflrqmv aarrerllln lelqkvfqdl
      541 lylmdwmeem kgrlqsqdlg rhlagvedll qlhelveadi avqaervrav sasalrfcnp
      601 gkeyrpcdpq lvservakle qsyealcela aarrarlees rrlwrflwev geaeawvreq
      661 qhllasadtg rdltgalrll nkhtalrgem sgrlgplklt leqgqqlvae ghpgasqasa
      721 raaelqaqwe rlealaeera qrlaqaasly qfqadandme awlvdalrlv sspelghdef
      781 stqalarqhr aleeeirshr ptldalreqa aalpptlsrt pevqsrvptl erhyeelqar
      841 ageraralea alalytmlse agacglwvee keqwlnglal perledlevv qqrfetlepe
      901 mntlaaqita vndiaeqllk anppgkdriv ntqeqlnhrw qqfrrladgk kaaltsalsi
      961 qnyhlectet qawmrektkv iestqglgnd lagvlalqrk lagterdlea iaarvgeltr
     1021 eanalaaghp aqavainarl revqtgwedl ratmrrrees lgearrlqdf lrslddfqaw
     1081 lgrtqtavas eegpatlpea eallaqhaal rgeveraqse ysrlralgee vtrdqadpqc
     1141 lflrqrleal gtgweelgrm wesrqgrlaq ahgfqgflrd arqaegvlss qeyvlshtem
     1201 pgtlqaadaa ikkledfmst mdangerihg lleagrqlvs egnihadkir ekadsierrh
     1261 kknqdaaqqf lgrlrdnreq qhflqdchel klwidekmlt aqdvsydear nlhtkwqkhq
     1321 afmaelaank dwldkvdkeg reltlekpel kalvseklrd lhrrwdelet ttqakarslf
     1381 danraelfaq sccaleswle slqaqlhsdd ygkdltsvni llkkqqmlew emavrekeve
     1441 aiqaqakala qedqgageve rtsraveekf ralcqpmrer crrlqasreq hqfhrdvede
     1501 ilwvterlpm assmehgkdl psvqllmkkn qtlqkeiqgh epriadlrer qralgaaaag
     1561 pelaelqemw krlghelelr gkrledalra qqfyrdaaea eawmgeqelh mmgqekakde
     1621 lsaqaevkkh qvleqalady aqtihqlaas sqdmidhehp estrisirqa qvdklyaglk
     1681 elagerrerl qehlrlcqlr relddleqwi qerevvaash elgqdyehvt mlrdkfrefs
     1741 rdtstigqer vdsanalang liagghaara tvaewkdsln eawadllell dtrgqvlaaa
     1801 yelqrflhga rqalarvqhk qqqlpdgtgr dlnaaealqr rhcayehdiq alspqvqqvq
     1861 ddghrlqkay agdkaeeigr hmqavaeawa qlqgssaarr qllldttdkf rffkavrelm
     1921 lwmdevnlqm daqerprdvs sadlviknqq gikaeieara drfsscidmg kellarshya
     1981 aeeiseklsq lqarrqetae kwqekmdwlq lvlevlvfgr dagmaeawlc sqeplvrsae
     2041 lgctvdeves likrheafqk savaweerfc alekltalee rekerkrkre eeerrkqppa
     2101 peptasvppg dlvggqtasd ttwdgtqprp ppstqapsvn gvctdgepsq pllgqqrleh
     2161 ssfpegpgpg sgdeangprg erqtrtrgpa psampqsrst esahaatlpp rgpepsaqeq
     2221 megmlcrkqe meafgkkaan rswqnvycvl rrgslgfykd akaasagvpy hgevpvslar
     2281 aqgsvafdyr krkhvfklgl qdgkeylfqa kdeaemsswl rvvnaaiata ssasgepeep
     2341 vvpsttrgmt ramtmppvsp vgaegpvvlr skdgrerere krfsffkknk
//
LOCUS       NP_001371768            1045 aa            linear   PRI 18-MAR-2023
DEFINITION  microtubule-associated protein 4 isoform 89 [Homo sapiens].
ACCESSION   NP_001371768
VERSION     NP_001371768.1
DBSOURCE    REFSEQ: accession NM_001384839.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1045)
  AUTHORS   Wang L, Paudyal SC, Kang Y, Owa M, Liang FX, Spektor A, Knaut H,
            Sanchez I and Dynlacht BD.
  TITLE     Regulators of tubulin polyglutamylation control nuclear shape and
            cilium disassembly by balancing microtubule and actin assembly
  JOURNAL   Cell Res 32 (2), 190-209 (2022)
   PUBMED   34782749
REFERENCE   2  (residues 1 to 1045)
  AUTHORS   Thapa N, Chen M, Horn HT, Choi S, Wen T and Anderson RA.
  TITLE     Phosphatidylinositol-3-OH kinase signalling is spatially organized
            at endosomal compartments by microtubule-associated protein 4
  JOURNAL   Nat Cell Biol 22 (11), 1357-1370 (2020)
   PUBMED   33139939
  REMARK    GeneRIF: Phosphatidylinositol-3-OH kinase signalling is spatially
            organized at endosomal compartments by microtubule-associated
            protein 4.
REFERENCE   3  (residues 1 to 1045)
  AUTHORS   Guo Y, Zhang X, Xu Q, Gong F, Shi X, Li C, Huang R, Nie F, Zhu W,
            Li J, Tang J, Li R, Zhang L, Chen L and Ma RZ.
  TITLE     Human Papillomavirus 16 oncoprotein E7 retards mitotic progression
            by blocking Mps1-MAP4 signaling cascade
  JOURNAL   Oncogene 38 (31), 5959-5970 (2019)
   PUBMED   31253867
  REMARK    GeneRIF: study reveals a molecular mechanism by which HPV16E7
            perturbs host mitotic progression by interfering Mps1-MAP4
            signaling cascade, which results in an extended infection window
            and may facilitate the persistent HPV16 infection
REFERENCE   4  (residues 1 to 1045)
  AUTHORS   Zhang S, Deen S, Storr SJ, Yao A and Martin SG.
  TITLE     Expression of Syk and MAP4 proteins in ovarian cancer
  JOURNAL   J Cancer Res Clin Oncol 145 (4), 909-919 (2019)
   PUBMED   30737623
  REMARK    GeneRIF: Results suggest that Syk, MAP4, and calpain-1 expression
            are correlated with each other and these proteins may be involved
            in early stages of tumour spread.
REFERENCE   5  (residues 1 to 1045)
  AUTHORS   Shigematsu H, Imasaki T, Doki C, Sumi T, Aoki M, Uchikubo-Kamo T,
            Sakamoto A, Tokuraku K, Shirouzu M and Nitta R.
  TITLE     Structural insight into microtubule stabilization and kinesin
            inhibition by Tau family MAPs
  JOURNAL   J Cell Biol 217 (12), 4155-4163 (2018)
   PUBMED   30275105
  REMARK    GeneRIF: The strongest bond of MAP4 was found around the
            intertubulin-dimer interface such that MAP4 coexists on the
            microtubule with kinesin-1 bound to the intratubulin-dimer
            interface as well.
REFERENCE   6  (residues 1 to 1045)
  AUTHORS   Ookata K, Hisanaga S, Bulinski JC, Murofushi H, Aizawa H, Itoh TJ,
            Hotani H, Okumura E, Tachibana K and Kishimoto T.
  TITLE     Cyclin B interaction with microtubule-associated protein 4 (MAP4)
            targets p34cdc2 kinase to microtubules and is a potential regulator
            of M-phase microtubule dynamics
  JOURNAL   J Cell Biol 128 (5), 849-862 (1995)
   PUBMED   7876309
REFERENCE   7  (residues 1 to 1045)
  AUTHORS   Chapin SJ, Lue CM, Yu MT and Bulinski JC.
  TITLE     Differential expression of alternatively spliced forms of MAP4: a
            repertoire of structurally different microtubule-binding domains
  JOURNAL   Biochemistry 34 (7), 2289-2301 (1995)
   PUBMED   7857940
REFERENCE   8  (residues 1 to 1045)
  AUTHORS   Chapin SJ and Bulinski JC.
  TITLE     Microtubule stabilization by assembly-promoting
            microtubule-associated proteins: a repeat performance
  JOURNAL   Cell Motil Cytoskeleton 23 (4), 236-243 (1992)
   PUBMED   1477887
  REMARK    Review article
REFERENCE   9  (residues 1 to 1045)
  AUTHORS   West RR, Tenbarge KM and Olmsted JB.
  TITLE     A model for microtubule-associated protein 4 structure. Domains
            defined by comparisons of human, mouse, and bovine sequences
  JOURNAL   J Biol Chem 266 (32), 21886-21896 (1991)
   PUBMED   1718985
REFERENCE   10 (residues 1 to 1045)
  AUTHORS   Chapin SJ and Bulinski JC.
  TITLE     Non-neuronal 210 x 10(3) Mr microtubule-associated protein (MAP4)
            contains a domain homologous to the microtubule-binding domains of
            neuronal MAP2 and tau
  JOURNAL   J Cell Sci 98 (Pt 1), 27-36 (1991)
   PUBMED   1905296
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124916.3 and AC139667.5.
            
            Summary: The protein encoded by this gene is a major non-neuronal
            microtubule-associated protein. This protein contains a domain
            similar to the microtubule-binding domains of neuronal
            microtubule-associated protein (MAP2) and microtubule-associated
            protein tau (MAPT/TAU). This protein promotes microtubule assembly,
            and has been shown to counteract destabilization of interphase
            microtubule catastrophe promotion. Cyclin B was found to interact
            with this protein, which targets cell division cycle 2 (CDC2)
            kinase to microtubules. The phosphorylation of this protein affects
            microtubule properties and cell cycle progression. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Aug 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.1525218.1,
                                           SRR14038194.2598121.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1045
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..1045
                     /product="microtubule-associated protein 4 isoform 89"
                     /note="MAP-4"
                     /calculated_mol_wt=109533
     Region          <468..812
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <824..845
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          885..914
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          916..945
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          947..977
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     CDS             1..1045
                     /gene="MAP4"
                     /coded_by="NM_001384839.1:175..3312"
                     /note="isoform 89 is encoded by transcript variant 91"
                     /db_xref="GeneID:4134"
                     /db_xref="HGNC:HGNC:6862"
                     /db_xref="MIM:157132"
ORIGIN      
        1 mayqeypnsq nwpedtnfcf qpeqvvdpiq tdpfkmyhdd dladlvfpss atadtsifag
       61 qndplkdsyg mspcntavvp qgwsvealns phsesfvspe avaeppqpta vplelakeie
      121 maseerppaq aleimmglkt tdmapskete malakdmala tktevalakd mesptkldvt
      181 lakdmqpsme sdmalvkdme lptekevalv kdvrwptetd vssaknvvlp tetevapakd
      241 vtllketera spikmdlaps kdmgppkenk keteraspik mdlapskdmg ppkenkivpa
      301 kdlvllseie vaqandiiss teissaekva lssetevala rdmtlppetn viltkdkalp
      361 leaevapvkd maqlpeteia pakdvapstv kevgllkdms plsetemalg kdvtpppete
      421 vvliknvclp pemevalted qvpalkteap lakdgvltla nnvtpakdvp plseteatpv
      481 pikdmeiaqt qkgisedshl eslqdvgqsa aptfmispet vtgtgkkcsl paeedsvlek
      541 lgerkpcnsq pselssetsg iarpeegrpv vsgtgnditt ppnkelppsp ekktkplatt
      601 qpaktstska ktqptslpkq papttiggln kkpmslasgl vpaappkrpa vasarpsilp
      661 skdvkpkpia dakapekras pskpasapas rsgskstqtv aktttaaava stgpssrsps
      721 tllpkkptai ktegkpaevk kmtaksvpad lsrpkststs smkktttlsg tapaagvvps
      781 rvkatpmpsr psttpfidkk ptsakpsstt prlsrlatnt sapdlknvrs kvgstenikh
      841 qpgggrakve kkteaaattr kpesnavtkt agpiasaqkq pagkvqivsk kvsyshiqsk
      901 cgskdnikhv pgggnvqiqn kkvdiskvss kcgskanikh kpgggdvkie sqklnfkeka
      961 qakvgsldnv ghlpaggavk tegggseapl cpgppageep aiseaapeag aptsasglng
     1021 hptlsgggdq reaqtldsqi qetsi
//
LOCUS       NP_001332915             894 aa            linear   PRI 18-MAR-2023
DEFINITION  GPI ethanolamine phosphate transferase 2 isoform 3 [Homo sapiens].
ACCESSION   NP_001332915 XP_005272341
VERSION     NP_001332915.1
DBSOURCE    REFSEQ: accession NM_001345986.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 894)
  AUTHORS   Tremblay-Laganiere C, Maroofian R, Nguyen TTM, Karimiani EG,
            Kirmani S, Akbar F, Ibrahim S, Afroze B, Doosti M, Ashrafzadeh F,
            Babaei M, Efthymiou S, Christoforou M, Sultan T, Ladda RL,
            McLaughlin HM, Truty R, Mahida S, Cohen JS, Baranano K, Ismail FY,
            Patel MS, Lehman A, Edmondson AC, Nagy A, Walker MA,
            Mercimek-Andrews S, Maki Y, Sachdev R, Macintosh R, Palmer EE,
            Mancini GMS, Barakat TS, Steinfeld R, Rusch CT, Stettner GM, Wagner
            M, Wortmann SB, Kini U, Brady AF, Stals KL, Ismayilova N, Ellard S,
            Bernardo D, Nugent K, McLean SD, Antonarakis SE, Houlden H,
            Kinoshita T, Campeau PM and Murakami Y.
  TITLE     PIGG variant pathogenicity assessment reveals characteristic
            features within 19 families
  JOURNAL   Genet Med 23 (10), 1873-1881 (2021)
   PUBMED   34113002
  REMARK    GeneRIF: PIGG variant pathogenicity assessment reveals
            characteristic features within 19 families.
REFERENCE   2  (residues 1 to 894)
  AUTHORS   Parsamanesh N, Safarpour H, Etesam S, Shadmehri AA and
            Miri-Moghaddam E.
  TITLE     Identification and In Silico Characterization of a Novel Point
            Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis
            Class G Gene in an Iranian Family with Intellectual Disability
  JOURNAL   J Mol Neurosci 69 (4), 538-545 (2019)
   PUBMED   31414351
  REMARK    GeneRIF: Arg658Gln mutation segregates with nonsyndromic
            intellectual disability in Iranian family.
REFERENCE   3  (residues 1 to 894)
  AUTHORS   Zhao JJ, Halvardson J, Knaus A, Georgii-Hemming P, Baeck P, Krawitz
            PM, Thuresson AC and Feuk L.
  TITLE     Reduced cell surface levels of GPI-linked markers in a new case
            with PIGG loss of function
  JOURNAL   Hum Mutat 38 (10), 1394-1401 (2017)
   PUBMED   28581210
  REMARK    GeneRIF: Based on genetic and functional evidence, we confirm that
            pathogenic variants in PIGG cause an intellectual disability
            syndrome, and we find that loss of function of PIGG is associated
            with Glycosylphosphatidylinositol deficiency
REFERENCE   4  (residues 1 to 894)
  AUTHORS   Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA,
            Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan
            CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H,
            Sheridan E, Kinoshita T, Antonarakis SE and Murakami Y.
  TITLE     Pathogenic Variants in PIGG Cause Intellectual Disability with
            Seizures and Hypotonia
  JOURNAL   Am J Hum Genet 98 (4), 615-626 (2016)
   PUBMED   26996948
  REMARK    GeneRIF: loss-of-function variants in PIGG associated with
            intellectual disability and hypotonia
REFERENCE   5  (residues 1 to 894)
  AUTHORS   Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida
            H, Satoh K, Aoyagi Y, Nozawa Y and Yamada Y.
  TITLE     Association of genetic variants with hemorrhagic stroke in Japanese
            individuals
  JOURNAL   Int J Mol Med 25 (4), 649-656 (2010)
   PUBMED   20198315
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 894)
  AUTHORS   Oguri M, Kato K, Yokoi K, Yoshida T, Watanabe S, Metoki N, Yoshida
            H, Satoh K, Aoyagi Y, Nozawa Y and Yamada Y.
  TITLE     Assessment of a polymorphism of SDK1 with hypertension in Japanese
            Individuals
  JOURNAL   Am J Hypertens 23 (1), 70-77 (2010)
   PUBMED   19851296
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 894)
  AUTHORS   Shishioh N, Hong Y, Ohishi K, Ashida H, Maeda Y and Kinoshita T.
  TITLE     GPI7 is the second partner of PIG-F and involved in modification of
            glycosylphosphatidylinositol
  JOURNAL   J Biol Chem 280 (10), 9728-9734 (2005)
   PUBMED   15632136
REFERENCE   8  (residues 1 to 894)
  AUTHORS   Kinoshita T and Inoue N.
  TITLE     Dissecting and manipulating the pathway for
            glycosylphos-phatidylinositol-anchor biosynthesis
  JOURNAL   Curr Opin Chem Biol 4 (6), 632-638 (2000)
   PUBMED   11102867
  REMARK    Review article
REFERENCE   9  (residues 1 to 894)
  AUTHORS   Battaglia,A., Carey,J.C. and South,S.T.
  TITLE     Wolf-Hirschhorn Syndrome - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301362
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092574.2 and AC116565.4.
            On Sep 17, 2016 this sequence version replaced XP_005272341.1.
            
            Summary: This gene encodes an enzyme involved in
            glycosylphosphatidylinositol-anchor biosynthesis. The encoded
            protein, which is localized to the endoplasmic reticulum, is
            involved in transferring ethanoloamine phosphate to mannose 2 of
            glycosylphosphatidylinositol species H7 to form species H8. Allelic
            variants of this gene have been associated with intellectual
            disability, hypotonia, and early-onset seizures. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Sep 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.4286704.1,
                                           SRR11853563.24812.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..894
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     Protein         1..894
                     /product="GPI ethanolamine phosphate transferase 2 isoform
                     3"
                     /note="GPI ethanolamine phosphate transferase 2;
                     phosphatidylinositol-glycan biosynthesis class G protein;
                     EMM blood group antigen; LAS21 (GPI7) homolog"
                     /calculated_mol_wt=98712
     Region          1..246
                     /region_name="GPI_EPT_2"
                     /note="GPI ethanolamine phosphate transferase 2; PIG-G;
                     cd16024"
                     /db_xref="CDD:293748"
     Region          <172..323
                     /region_name="AslA"
                     /note="Arylsulfatase A or related enzyme [Inorganic ion
                     transport and metabolism]; COG3119"
                     /db_xref="CDD:225661"
     Region          <714..876
                     /region_name="PIGO_PIGG"
                     /note="GPI ethanolamine phosphate transferase membrane
                     region; pfam19316"
                     /db_xref="CDD:437148"
     CDS             1..894
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /coded_by="NM_001345986.2:630..3314"
                     /note="isoform 3 is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS75081.1"
                     /db_xref="GeneID:54872"
                     /db_xref="HGNC:HGNC:25985"
                     /db_xref="MIM:616918"
ORIGIN      
        1 mpyttylvek gashsfvaea kpptvtmpri kalmtgslpg fvdvirnlns palledsvir
       61 qakaagkriv fygdetwvkl fpkhfveydg ttsffvsdyt evdnnvtrhl dkvlkrgdwd
      121 ililhylgld highisgpns pligqklsem dsvlmkihts lqskeretpl pnllvlcgdh
      181 gmsetgshga ssteevntpl ilissaferk pgdirhpkhv qqtdvaatla ialglpipkd
      241 svgsllfpvv egrpmreqlr flhlntvqls kllqenvpsy ekdpgfeqfk mserlhgnwi
      301 rlyleekhse vlfnlgskvl rqyldalktl slslsaqvaq ydiysmmvgt vvvlevltll
      361 llsvpqalrr kaelevplss pgfsllfylv ilvlsavhvi vctsaesscy fcglswlaag
      421 gvmvlasall cvivsvltnv lvggntprkn pmhpssrwse ldllillgta ghvlslgass
      481 fveeehqtwy flvntlclal sqetyrnyfl gddgeppcgl cveqghdgat aawqdgpgcd
      541 vlerdkghgs pstsevlrgr ekwmvlaspw lilaccrllr slnqtgvqwa hrpdlghwlt
      601 ssdhkaelsv laalsllvvf vlvqrgcspv skaalalgll gvycyraaig svrfpwrpds
      661 kdiskgiiea rfvyvfvlgi lftgtkdllk sqviaadfkl ktvglweiys glvllaallf
      721 rphnlpvlaf slliqtlmtk fiwkplrhda aeitvmhywf gqaffyfqgn snniatvdis
      781 agfvgldtyv eipavlltaf gtyagpvlwa shlvhflsse trsgsalsha cfcyalicsi
      841 pvftyivlvt slryhlfiws vfspkllyeg mhllitaavc vfftamdqtr ltqs
//
LOCUS       NP_001369395             464 aa            linear   PRI 19-MAR-2023
DEFINITION  ERO1-like protein alpha isoform 4 precursor [Homo sapiens].
ACCESSION   NP_001369395
VERSION     NP_001369395.1
DBSOURCE    REFSEQ: accession NM_001382466.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 464)
  AUTHORS   Varone E, Decio A, Barbera MC, Bolis M, Di Rito L, Pisati F,
            Giavazzi R and Zito E.
  TITLE     Endoplasmic reticulum oxidoreductin 1-alpha deficiency and
            activation of protein translation synergistically impair breast
            tumour resilience
  JOURNAL   Br J Pharmacol 179 (23), 5180-5195 (2022)
   PUBMED   35853086
  REMARK    GeneRIF: Endoplasmic reticulum oxidoreductin 1-alpha deficiency and
            activation of protein translation synergistically impair breast
            tumour resilience.
REFERENCE   2  (residues 1 to 464)
  AUTHORS   Varone E, Chernorudskiy A, Cherubini A, Cattaneo A, Bachi A,
            Fumagalli S, Erol G, Gobbi M, Lenardo MJ, Borgese N and Zito E.
  TITLE     ERO1 alpha deficiency impairs angiogenesis by increasing
            N-glycosylation of a proangiogenic VEGFA
  JOURNAL   Redox Biol 56, 102455 (2022)
   PUBMED   36063727
  REMARK    GeneRIF: ERO1 alpha deficiency impairs angiogenesis by increasing
            N-glycosylation of a proangiogenic VEGFA.
REFERENCE   3  (residues 1 to 464)
  AUTHORS   Xie J, Liao G, Feng Z, Liu B, Li X and Qiu M.
  TITLE     ERO1L promotes the proliferation and metastasis of lung
            adenocarcinoma via the Wnt2/beta-catenin signaling pathway
  JOURNAL   Mol Carcinog 61 (10), 897-909 (2022)
   PUBMED   35785492
  REMARK    GeneRIF: ERO1L promotes the proliferation and metastasis of lung
            adenocarcinoma via the Wnt2/beta-catenin signaling pathway.
REFERENCE   4  (residues 1 to 464)
  AUTHORS   Spina A, Guidarelli A, Fiorani M, Varone E, Catalani A, Zito E and
            Cantoni O.
  TITLE     Crosstalk between ERO1alpha and ryanodine receptor in
            arsenite-dependent mitochondrial ROS formation
  JOURNAL   Biochem Pharmacol 198, 114973 (2022)
   PUBMED   35189109
  REMARK    GeneRIF: Crosstalk between ERO1alpha and ryanodine receptor in
            arsenite-dependent mitochondrial ROS formation.
REFERENCE   5  (residues 1 to 464)
  AUTHORS   Shergalis AG, Hu S, Bankhead A 3rd and Neamati N.
  TITLE     Role of the ERO1-PDI interaction in oxidative protein folding and
            disease
  JOURNAL   Pharmacol Ther 210, 107525 (2020)
   PUBMED   32201313
  REMARK    Review article
REFERENCE   6  (residues 1 to 464)
  AUTHORS   Fan Y and Simmen T.
  TITLE     Mechanistic Connections between Endoplasmic Reticulum (ER) Redox
            Control and Mitochondrial Metabolism
  JOURNAL   Cells 8 (9), 1071 (2019)
   PUBMED   31547228
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 464)
  AUTHORS   Pagani M, Pilati S, Bertoli G, Valsasina B and Sitia R.
  TITLE     The C-terminal domain of yeast Ero1p mediates membrane localization
            and is essential for function
  JOURNAL   FEBS Lett 508 (1), 117-120 (2001)
   PUBMED   11707280
REFERENCE   8  (residues 1 to 464)
  AUTHORS   Benham AM, Cabibbo A, Fassio A, Bulleid N, Sitia R and Braakman I.
  TITLE     The CXXCXXC motif determines the folding, structure and stability
            of human Ero1-Lalpha
  JOURNAL   EMBO J 19 (17), 4493-4502 (2000)
   PUBMED   10970843
REFERENCE   9  (residues 1 to 464)
  AUTHORS   Pagani M, Fabbri M, Benedetti C, Fassio A, Pilati S, Bulleid NJ,
            Cabibbo A and Sitia R.
  TITLE     Endoplasmic reticulum oxidoreductin 1-lbeta (ERO1-Lbeta), a human
            gene induced in the course of the unfolded protein response
  JOURNAL   J Biol Chem 275 (31), 23685-23692 (2000)
   PUBMED   10818100
REFERENCE   10 (residues 1 to 464)
  AUTHORS   Cabibbo A, Pagani M, Fabbri M, Rocchi M, Farmery MR, Bulleid NJ and
            Sitia R.
  TITLE     ERO1-L, a human protein that favors disulfide bond formation in the
            endoplasmic reticulum
  JOURNAL   J Biol Chem 275 (7), 4827-4833 (2000)
   PUBMED   10671517
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL133453.3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA2467146 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..464
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.1"
     Protein         1..464
                     /product="ERO1-like protein alpha isoform 4 precursor"
                     /note="ERO1-like protein alpha; oxidoreductin-1-L-alpha;
                     endoplasmic oxidoreductin-1-like protein; endoplasmic
                     reticulum oxidoreductase alpha"
                     /calculated_mol_wt=51463
     sig_peptide     1..23
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2419
     Region          60..453
                     /region_name="ERO1"
                     /note="Endoplasmic Reticulum Oxidoreductin 1 (ERO1);
                     pfam04137"
                     /db_xref="CDD:427737"
     Site            106
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96HE7.2)"
     Site            143
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96HE7.2)"
     Site            145
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:29858230; propagated from
                     UniProtKB/Swiss-Prot (Q96HE7.2)"
     Site            276
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q96HE7.2)"
     Site            380
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96HE7.2)"
     CDS             1..464
                     /gene="ERO1A"
                     /gene_synonym="ERO1-alpha; ERO1-L; ERO1-L-alpha;
                     Ero1alpha; ERO1L; ERO1LA"
                     /coded_by="NM_001382466.1:78..1472"
                     /note="isoform 4 precursor is encoded by transcript
                     variant 4"
                     /db_xref="GeneID:30001"
                     /db_xref="HGNC:HGNC:13280"
                     /db_xref="MIM:615435"
ORIGIN      
        1 mgrgwgflfg llgavwllss ghgeeqppet aaqrcfcqvs gylddctcdv etidrfnnyr
       61 lfprlqklle sdyfryykvn lkrpcpfwnd isqcgrrdca vkpcqsdevp dgiksasyky
      121 seeannliee ceqaerlgav deslseetqk avlqwtkhdd ssdnfceadd iqspeaeyvd
      181 lllnperytg ykgpdawkiw nviyeencfk pqtikrplnp lasgqgtsee ntfyswlegl
      241 cvekrafyrl isglhasinv hlsaryllqe kkwghnitef qqrfdgilte gegprrlknl
      301 yflylielra lskvlpffer pdfqlftgnk iqdeenkmll leilheiksf plhfdensff
      361 agdkkeahkl kedfrlhfrn isrimdcvgc fkcrlwgklq tqglgtalki lfseklianm
      421 pesgpsyefh ltrqeivslf nafgristsv kelenfrnll qnih
//
LOCUS       NP_001185655             305 aa            linear   PRI 19-MAR-2023
DEFINITION  rho GTPase-activating protein 8 isoform 3 [Homo sapiens].
ACCESSION   NP_001185655
VERSION     NP_001185655.1
DBSOURCE    REFSEQ: accession NM_001198726.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 305)
  AUTHORS   Wong DCP, Pan CQ, Er SY, Thivakar T, Rachel TZY, Seah SH, Chua PJ,
            Jiang T, Chew TW, Chaudhuri PK, Mukherjee S, Salim A, Aye TA, Koh
            CG, Lim CT, Tan PH, Bay BH, Ridley AJ and Low BC.
  TITLE     The scaffold RhoGAP protein ARHGAP8/BPGAP1 synchronizes Rac and Rho
            signaling to facilitate cell migration
  JOURNAL   Mol Biol Cell 34 (3), ar13 (2023)
   PUBMED   36598812
  REMARK    GeneRIF: The scaffold RhoGAP protein ARHGAP8/BPGAP1 synchronizes
            Rac and Rho signaling to facilitate cell migration.
REFERENCE   2  (residues 1 to 305)
  AUTHORS   McElroy SL, Winham SJ, Cuellar-Barboza AB, Colby CL, Ho AM, Sicotte
            H, Larrabee BR, Crow S, Frye MA and Biernacka JM.
  TITLE     Bipolar disorder with binge eating behavior: a genome-wide
            association study implicates PRR5-ARHGAP8
  JOURNAL   Transl Psychiatry 8 (1), 40 (2018)
   PUBMED   29391396
  REMARK    GeneRIF: Fusion protein PRR5-ARHGAP8 plays a role in bipolar
            disorder with binge eating behavior.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 305)
  AUTHORS   Jiang T, Pan CQ and Low BC.
  TITLE     BPGAP1 spatially integrates JNK/ERK signaling crosstalk in
            oncogenesis
  JOURNAL   Oncogene 36 (22), 3178-3192 (2017)
   PUBMED   28092672
  REMARK    GeneRIF: BPGAP1 provides a crucial spatiotemporal checkpoint where
            JNK and MP1/MEK1 work in concert to regulate endosomal and nuclear
            ERK signaling in cell proliferation control.
REFERENCE   4  (residues 1 to 305)
  AUTHORS   Winham SJ, Cuellar-Barboza AB, McElroy SL, Oliveros A, Crow S,
            Colby CL, Choi DS, Chauhan M, Frye MA and Biernacka JM.
  TITLE     Bipolar disorder with comorbid binge eating history: a genome-wide
            association study implicates APOB
  JOURNAL   J Affect Disord 165, 151-158 (2014)
   PUBMED   24882193
REFERENCE   5  (residues 1 to 305)
  AUTHORS   Ludwig KU, Mangold E, Herms S, Nowak S, Reutter H, Paul A, Becker
            J, Herberz R, AlChawa T, Nasser E, Bohmer AC, Mattheisen M, Alblas
            MA, Barth S, Kluck N, Lauster C, Braumann B, Reich RH, Hemprich A,
            Potzsch S, Blaumeiser B, Daratsianos N, Kreusch T, Murray JC,
            Marazita ML, Ruczinski I, Scott AF, Beaty TH, Kramer FJ, Wienker
            TF, Steegers-Theunissen RP, Rubini M, Mossey PA, Hoffmann P, Lange
            C, Cichon S, Propping P, Knapp M and Nothen MM.
  TITLE     Genome-wide meta-analyses of nonsyndromic cleft lip with or without
            cleft palate identify six new risk loci
  JOURNAL   Nat Genet 44 (9), 968-971 (2012)
   PUBMED   22863734
REFERENCE   6  (residues 1 to 305)
  AUTHORS   Lua BL and Low BC.
  TITLE     BPGAP1 interacts with cortactin and facilitates its translocation
            to cell periphery for enhanced cell migration
  JOURNAL   Mol Biol Cell 15 (6), 2873-2883 (2004)
   PUBMED   15064355
  REMARK    GeneRIF: RhoGAP functionally interacts with cortactin and
            represents a novel determinant in the regulation of cell dynamics.
REFERENCE   7  (residues 1 to 305)
  AUTHORS   Shang X, Zhou YT and Low BC.
  TITLE     Concerted regulation of cell dynamics by BNIP-2 and Cdc42GAP
            homology/Sec14p-like, proline-rich, and GTPase-activating protein
            domains of a novel Rho GTPase-activating protein, BPGAP1
  JOURNAL   J Biol Chem 278 (46), 45903-45914 (2003)
   PUBMED   12944407
  REMARK    GeneRIF: BPGAP1 has a role in regulating cell dynamics with BNIP-2
            and Cdc42GAP homology/Sec14p-like, proline-rich, and
            GTPase-activating protein domains of BPGAP1
REFERENCE   8  (residues 1 to 305)
  AUTHORS   Shan Z, Haaf T and Popescu NC.
  TITLE     Identification and characterization of a gene encoding a putative
            mouse Rho GTPase activating protein gene 8, Arhgap8
  JOURNAL   Gene 303, 55-61 (2003)
   PUBMED   12559566
  REMARK    GeneRIF: This paper compares the protein sequences and genomic
            structures of human and mouse ARHGAP8.
REFERENCE   9  (residues 1 to 305)
  AUTHORS   Peck J, Douglas G 4th, Wu CH and Burbelo PD.
  TITLE     Human RhoGAP domain-containing proteins: structure, function and
            evolutionary relationships
  JOURNAL   FEBS Lett 528 (1-3), 27-34 (2002)
   PUBMED   12297274
  REMARK    Review article
REFERENCE   10 (residues 1 to 305)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK001306.1, BC067824.1,
            AI284954.1 and AW673723.1.
            
            Summary: This gene encodes a member of the RHOGAP family. GAP
            (GTPase-activating) family proteins participate in signaling
            pathways that regulate cell processes involved in cytoskeletal
            changes. GAP proteins alternate between an active (GTP-bound) and
            inactive (GDP-bound) state based on the GTP:GDP ratio in the cell.
            This family member is a multidomain protein that functions to
            promote Erk activation and cell motility. Alternative splicing
            results in multiple transcript variants. Read-through transcripts
            from the upstream proline rich 5, renal (PRR5) gene into this gene
            also exist, which led to the original description of PRR5 and
            ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010].
            
            Transcript Variant: This variant (3) lacks both an alternate
            in-frame exon in the central coding region and an alternate exon
            that results in a frameshift in the 3' coding region, compared to
            variant 1. The encoded isoform (3) has a distinct C-terminus and is
            shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.1255619.1,
                                           SRR18074969.1659962.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..305
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.31"
     Protein         1..305
                     /product="rho GTPase-activating protein 8 isoform 3"
                     /note="BCH domain-containing Cdc42GAP-like protein; BNIP-2
                     and Cdc42GAP homology domain-containing, proline-rich and
                     Cdc42GAP-like protein subtype-1; rho-type
                     GTPase-activating protein 8"
                     /calculated_mol_wt=35476
     Region          12..157
                     /region_name="SEC14"
                     /note="Sec14p-like lipid-binding domain. Found in
                     secretory proteins, such as S. cerevisiae
                     phosphatidylinositol transfer protein (Sec14p), and in
                     lipid regulated proteins such as RhoGAPs, RhoGEFs and
                     neurofibromin (NF1). SEC14 domain of Dbl is known to...;
                     cd00170"
                     /db_xref="CDD:238099"
     Site            order(34,36,38,65,80,82,90,94,98,102,105,108,110,117,124,
                     136)
                     /site_type="other"
                     /note="phospholipid binding pocket [chemical binding]"
                     /db_xref="CDD:238099"
     Site            order(103,135)
                     /site_type="other"
                     /note="salt bridge"
                     /db_xref="CDD:238099"
     Region          191..>297
                     /region_name="RhoGAP"
                     /note="GTPase-activator protein (GAP) for Rho-like
                     GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases.
                     Small GTPases (G proteins) cluster into distinct families,
                     and all act as molecular switches, active in their
                     GTP-bound form but inactive when bound to...; cl02570"
                     /db_xref="CDD:445838"
     Site            232
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:238090"
     CDS             1..305
                     /gene="ARHGAP8"
                     /gene_synonym="BPGAP1; PP610"
                     /coded_by="NM_001198726.2:125..1042"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS56233.1"
                     /db_xref="GeneID:23779"
                     /db_xref="HGNC:HGNC:677"
                     /db_xref="MIM:609405"
ORIGIN      
        1 magqdpalst shpfydvarh gilqvagddr fgrrvvtfsc crmppsheld hqrlleylky
       61 tldqyvendy tivyfhygln srnkpslgwl qsaykefdrk ykknlkalyv vhptsfikvl
      121 wnilkplish kfgkkviyfn ylselhehlk ydqlvippev lrydeklqsl hegrtppptk
      181 tppprpplpt qqfgvslqyl kdknqgelip pvlrftvtyl rekglrtegl frrsasvqtv
      241 reiqrlynqg kpvnfddygd ihipavilkt flrelpqpll tfqayeqilg itcvpgehlq
      301 qneql
//
LOCUS       XP_047303806             995 aa            linear   PRI 20-MAR-2023
DEFINITION  KN motif and ankyrin repeat domain-containing protein 4 isoform X1
            [Homo sapiens].
ACCESSION   XP_047303806
VERSION     XP_047303806.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447850.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..995
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..995
                     /product="KN motif and ankyrin repeat domain-containing
                     protein 4 isoform X1"
                     /calculated_mol_wt=107211
     Region          24..62
                     /region_name="KN_motif"
                     /note="KN motif; pfam12075"
                     /db_xref="CDD:432311"
     Region          <337..>395
                     /region_name="ATG16"
                     /note="Autophagy protein 16 (ATG16); pfam08614"
                     /db_xref="CDD:430106"
     Site            order(823,825,829..830,833..835,837..838,842,845,855,895,
                     897,901..902,905..907,909..910,914,917,926,928,930,
                     934..935,938..940,942..943,947,950)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          823..855
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          828..926
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          895..926
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          900..986
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          928..953
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..995
                     /gene="KANK4"
                     /gene_synonym="ANKRD38; dJ1078M7.1"
                     /coded_by="XM_047447850.1:206..3193"
                     /db_xref="GeneID:163782"
                     /db_xref="HGNC:HGNC:27263"
                     /db_xref="MIM:614612"
ORIGIN      
        1 mektdakdqs sqgdeekdpp kshpysvetp ygfhldldfl kyvddiekgn tikripihrr
       61 akqakfstlp rnfslpdsga rppaapplqn wspvvpreas lgtqeqnqsp plgnapqast
      121 srsevsyhrk allaeatrql eaaepedael tfgsgrpqll rassmpatll hsraseepgl
      181 slgppappal pplqgegsvc dgtfepaegl agfhssspra stripelvqe gaeppegvvk
      241 vpnhlplpgp pfsfqnvlvv ledkedehna reaevlftpg sptpsppplp spipenelll
      301 eeielnisei pppppvevdm rsigirvtee slglarvdpg sisslkqqvs alegelsgrt
      361 eelaqvrtal qqqeeeikar eqrireleft vaqlegqfhq enakdtqgqt dvmvntdpvh
      421 glltrescdk gievnllgsm eseswghrge engllwgpdg hkqgnqspae rvllpqlslp
      481 qgpeqvltss vhsflstelr ieeagteqeg gpqggtrgag gflwgsdrkt ppagreetss
      541 nlpgkehpgr ppssptdati gqyvkkiqel lqeqwncleh gypelasaik qpasklssiq
      601 sqllsslnll lsaysaqahp pkeppassss ppveispsts lksimkkkdy gfraggngtk
      661 knlqfvgvng gyettsseet sgedstpedl sdseaekkcd gpdhkhvkda hltceagqgi
      721 pegtchaaqe sgpgeevphs kaerykpsee flnacralsq hlpetgtttd qllrqslnti
      781 sqewfrvssr kssspavvas ylhevqphsp hflkllvnla dhngntalhy svshsnfsiv
      841 kllletgvcn vdhqnkagyt avmitplasa etnedmavvw kllregnvni qatqggqtal
      901 mlgvshdred mvqallscqa dvnlqdhdgs salmvachhg nvdlvrllla hpacdssltd
      961 kagrtalsia lkspthmeia gllrahaeqg rslgl
//
LOCUS       XP_011542427             155 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C1orf100 isoform X3 [Homo sapiens].
ACCESSION   XP_011542427
VERSION     XP_011542427.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544125.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..155
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..155
                     /product="uncharacterized protein C1orf100 isoform X3"
                     /calculated_mol_wt=18432
     Region          1..149
                     /region_name="DUF5530"
                     /note="Family of unknown function (DUF5530); pfam17670"
                     /db_xref="CDD:435962"
     CDS             1..155
                     /gene="C1orf100"
                     /coded_by="XM_011544125.3:114..581"
                     /db_xref="GeneID:200159"
                     /db_xref="HGNC:HGNC:30435"
ORIGIN      
        1 mtairlrefi errpvippsi fiahqgrdvq gyypgqlarl hfdhsakrap sklllfpfrp
       61 lidltippkt kyhyqpqldq qtliryiclr rhskpaepwy kettyrrdys lpfyeidwnq
      121 klatvslnpr plnslpelyc ceerssfern afklk
//
LOCUS       XP_047305902            1302 aa            linear   PRI 20-MAR-2023
DEFINITION  neurofascin isoform X17 [Homo sapiens].
ACCESSION   XP_047305902
VERSION     XP_047305902.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449946.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1302
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1302
                     /product="neurofascin isoform X17"
                     /calculated_mol_wt=144444
     Region          118..212
                     /region_name="IgI_hNeurofascin_like"
                     /note="Immunoglobulin (Ig)-like domain of human
                     neurofascin (NF); member of the I-set of Ig superfamily
                     (IgSF) domains; cd05875"
                     /db_xref="CDD:409459"
     Region          118..122
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409459"
     Region          127..131
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409459"
     Region          136..143
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409459"
     Region          149..154
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409459"
     Region          157..159
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409459"
     Region          166..169
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409459"
     Region          174..178
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409459"
     Region          191..199
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409459"
     Region          202..212
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409459"
     Region          221..311
                     /region_name="IgI_2_L1-CAM_like"
                     /note="Second immunoglobulin (Ig)-like domain of the L1
                     cell adhesion molecule (CAM), and similar domains; member
                     of the I-set of Ig superfamily (IgSF) domains; cd05845"
                     /db_xref="CDD:409432"
     Region          221..224
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409432"
     Region          226..230
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409432"
     Region          233..241
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409432"
     Region          248..254
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409432"
     Region          257..260
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409432"
     Region          266..270
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409432"
     Region          272..276
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409432"
     Region          287..295
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409432"
     Region          298..311
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409432"
     Region          329..411
                     /region_name="Ig3_L1-CAM_like"
                     /note="Third immunoglobulin (Ig)-like domain of the L1
                     cell adhesion molecule (CAM), and similar domains;
                     cd05731"
                     /db_xref="CDD:409394"
     Region          341..345
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409394"
     Region          354..358
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409394"
     Region          376..380
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409394"
     Region          390..395
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409394"
     Region          403..406
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409394"
     Region          415..503
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          431..435
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          444..448
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          468..472
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          482..487
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          495..498
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          <527..595
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          538..542
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          561..565
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          575..580
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          588..591
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          605..686
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          616..620
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          631..634
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          652..656
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          666..671
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          679..682
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          690..780
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(690,756,771)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(772..773,775..776)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          791..881
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(871..872,874..875)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          887..978
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(887,954,969)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(970..971,973..974)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1076..1148
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          1194..1278
                     /region_name="Bravo_FIGEY"
                     /note="Bravo-like intracellular region; pfam13882"
                     /db_xref="CDD:433552"
     CDS             1..1302
                     /gene="NFASC"
                     /gene_synonym="NEDCPMD; NF; NRCAML"
                     /coded_by="XM_047449946.1:178..4086"
                     /db_xref="GeneID:23114"
                     /db_xref="HGNC:HGNC:29866"
                     /db_xref="MIM:609145"
ORIGIN      
        1 mnqtmapsge rlidlcaiwd agvylpsaaw nrassgvark rlneaeklsa vqeaqlkrle
       61 vtrprvlgsr eqgqvprmar qppppwvhaa fllcllslgg aieipmdpsi qneltqppti
      121 tkqsakdhiv dprdniliec eakgnpapsf hwtrnsrffn iakdprvsmr rrsgtlvidf
      181 rsggrpeeye geyqcfarnk fgtalsnrir lqvsksplwp kenldpvvvq egapltlqcn
      241 pppglpspvi fwmsssmepi tqdkrvsqgh ngdlyfsnvm lqdmqtdysc narfhfthti
      301 qqknpftlkv lttrgvaert psfmypqgta ssqmvlrgmd llleciasgv ptpdiawykk
      361 ggdlpsdkak fenfnkalri tnvseedsge yfclasnkmg sirhtisvrv kaapywldep
      421 knlilapged grlvcrangn pkptvqwmvn geplqsappn pnrevagdti ifrdtqissr
      481 avyqcntsne hgyllanafv svldvpprml sprnqlirvi lynrtrldcp ffgspiptlr
      541 wfkngqgsnl dggnyhvyen gsleikmirk edqgiytcva tnilgkaenq vrlevkdptr
      601 iyrmpedqva rrgttvqlec rvkhdpslkl tvswlkddep lyignrmkke ddsltifgva
      661 erdqgsytcv asteldqdla kayltvlgrp drprdleltd laersvrltw ipgdannspi
      721 tdyvvqfeed qfqpgvwhdh skypgsvnsa vlrlspyvny qfrviainev gsshpslpse
      781 ryrtsgappe snpgdvkgeg trknnmeitw tpmnatsafg pnlryivkwr rretreawnn
      841 vtvwgsryvv gqtpvyvpye irvqaendfg kgpepesvig ysgedlpsap rrfrvrqpnl
      901 etinlewdhp ehpngimigy tlkyvafngt kvgkqivenf spnqtkftvq rtdpvsryrf
      961 tlsartqvgs geavteespa ppneatptaa pptlppttvg atgavsstda taiaatteat
     1021 tvpiiptvap ttiattttva ttttttaaat tttesppttt sgtkihesap deqsiwnvtv
     1081 lpnskwanit wkhnfgpgtd fvveyidsnh tkktvpvkaq aqpiqltdly pgmtytlrvy
     1141 srdnegisst vitfmtstay tnnqadiatq gwfiglmcai allvlilliv cfikrsrggk
     1201 ypvrekkdvp lgpedpkeed gsfdysdedn kplqgsqtsl dgtikqqesd dslvdygegg
     1261 egqfnedgsf igqytvkkdk eetegnesse atspvnaiys la
//
LOCUS       XP_006711467             482 aa            linear   PRI 20-MAR-2023
DEFINITION  protoporphyrinogen oxidase isoform X8 [Homo sapiens].
ACCESSION   XP_006711467
VERSION     XP_006711467.3
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006711404.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_006711467.2.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..482
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..482
                     /product="protoporphyrinogen oxidase isoform X8"
                     /calculated_mol_wt=51123
     Region          3..476
                     /region_name="proto_IX_ox"
                     /note="protoporphyrinogen oxidase; TIGR00562"
                     /db_xref="CDD:213540"
     CDS             1..482
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP"
                     /coded_by="XM_006711404.5:29..1477"
                     /db_xref="GeneID:5498"
                     /db_xref="HGNC:HGNC:9280"
                     /db_xref="MIM:600923"
ORIGIN      
        1 mgrtvvvlgg gisglaasyh lsrapcppkv vlvesserlg gwirsvrgpn gaifelgprg
       61 irpagalgar tlllacgeqv selgldsevl pvrgdhpaaq nrflyvggal halptglrgl
      121 lrpsppfskp lfwaglrelt kprgkepdet vhsfaqrrlg pevaslamds lcrgvfagns
      181 relsirscfp slfqaeqthr sillglllga grtpqpdsal irqalaerws qwslrgglem
      241 lpqalethlt srgvsvlrgq pvcglslqae grwkvslrds sleadhvisa ipasvlsell
      301 paeaaplara lsaitavsva vvnlqyqgah lpvqgfghlv pssedpgvlg ivydsvafpe
      361 qdgsppglrv tvmlggswlq tleasgcvls qelfqqraqe aaatqlglke mpshclvhlh
      421 kncipqytlg hwqklesarq fltahrlplt lagasyegva vndciesgrq aavsvlgtep
      481 ns
//
LOCUS       XP_047280245             491 aa            linear   PRI 20-MAR-2023
DEFINITION  ATPase family AAA domain-containing protein 3A isoform X2 [Homo
            sapiens].
ACCESSION   XP_047280245
VERSION     XP_047280245.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424289.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..491
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..491
                     /product="ATPase family AAA domain-containing protein 3A
                     isoform X2"
                     /calculated_mol_wt=55269
     Region          42..286
                     /region_name="DUF3523"
                     /note="Domain of unknown function (DUF3523); pfam12037"
                     /db_xref="CDD:432279"
     Region          324..473
                     /region_name="RecA-like_ATAD3-like"
                     /note="ATPase domains of ATPase AAA-domain protein 3A
                     (ATAD3A), -3B, and -3C, and similar ATPase domains;
                     cd19512"
                     /db_xref="CDD:410920"
     Site            order(353,357..359,375,377..378,411..412)
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:410920"
     CDS             1..491
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /coded_by="XM_047424289.1:108..1583"
                     /db_xref="GeneID:55210"
                     /db_xref="HGNC:HGNC:25567"
                     /db_xref="MIM:612316"
ORIGIN      
        1 mswlfginkg pkgegagppp plppaqpgae gggdrglgdr papkdkwsnf dptgleraak
       61 aarelehsry akdalnlaqm qeqtlqleqq sklkeyeaav eqlkseqira qaeerrktls
      121 eetrqhqara qyqdklarqr yedqlkqqql lneenlrkqe esvqkqeamr ratveremel
      181 rhknemlrve aeararakae renadiireq irlkaaehrq tvlesirtag tlfgegfraf
      241 vtdwdkvtat vagltllavg vysaknatlv agrfiearlg kpslvretsr itvlealrhp
      301 iqvsrrllsr pqdalegvvl spslearvrd iaiatrntkk nrslyrnilm ygppgtgktl
      361 fakklalhsg mdyaimtggd vapmgregvt amhklfdwan tsrrglllfv deadaflrkr
      421 atekisedlr atlnaflyrt gqhsnkfmlv lasnqpeqfd waindrinem vhfdlpgqee
      481 rerlapeagp v
//
LOCUS       XP_047280559             315 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 692 isoform X1 [Homo sapiens].
ACCESSION   XP_047280559
VERSION     XP_047280559.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424603.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..315
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..315
                     /product="zinc finger protein 692 isoform X1"
                     /calculated_mol_wt=34249
     Region          4..>121
                     /region_name="kgd"
                     /note="multifunctional oxoglutarate
                     decarboxylase/oxoglutarate dehydrogenase thiamine
                     pyrophosphate-binding subunit/dihydrolipoyllysine-residue
                     succinyltransferase subunit; PRK12270"
                     /db_xref="CDD:237030"
     Region          <86..204
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          <154..>281
                     /region_name="COG5236"
                     /note="Uncharacterized conserved protein, contains RING
                     Zn-finger [General function prediction only]"
                     /db_xref="CDD:227561"
     Region          157..179
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(157,162,175,179)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(164,166,168,170..171,174..175,178,192,194,198..199,
                     202..203,206,220,222,224,226..227,230..231,234)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          187..207
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          215..235
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          246..263
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..315
                     /gene="ZNF692"
                     /gene_synonym="AREBP; Zfp692"
                     /coded_by="XM_047424603.1:624..1571"
                     /db_xref="GeneID:55657"
                     /db_xref="HGNC:HGNC:26049"
                     /db_xref="MIM:617758"
ORIGIN      
        1 mlsdaslwty ssspddsepd aprllpspvt ctpkegetpp apaalsspla vpalsassls
       61 srapppaevr vqpqlsrtpq aaqqtealas tgsqaqsapt pawdedtaqi gpkrirkaak
      121 relmpcdfpg cgrifsnrqy lnhhkkyqhi hqksfscpep acgksfnfkk hlkehmklhs
      181 dtrdyicefc arsfrtssnl vihrrihtge kplqceicgf tcrqkaslnw hqrkhaetva
      241 alrfpcefcg krfekpdsva ahrskshpal llapqespsg plepcpsisa pgplgssegs
      301 rpsaspqapt llpqq
//
LOCUS       XP_011508155             340 aa            linear   PRI 20-MAR-2023
DEFINITION  hyaluronan and proteoglycan link protein 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011508155
VERSION     XP_011508155.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011509853.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..340
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..340
                     /product="hyaluronan and proteoglycan link protein 2
                     isoform X1"
                     /calculated_mol_wt=37644
     Region          45..150
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          53..57
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          67..71
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          111..115
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          125..130
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          143..146
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          148..241
                     /region_name="Link_domain_HAPLN_module_1"
                     /note="this link domain is found in the first link module
                     of proteins similar to the vertebrate HAPLN (hyaluronan/HA
                     and proteoglycan binding link) protein family which
                     includes cartilage link protein. The link domain is a
                     HA-binding domain. HAPLNs contain two...; cd03518"
                     /db_xref="CDD:239595"
     Site            158..159
                     /site_type="other"
                     /note="putative hyaluronan binding site [chemical
                     binding]"
                     /db_xref="CDD:239595"
     Region          250..337
                     /region_name="Link_domain_HAPLN_module_2"
                     /note="this link domain is found in the second link module
                     of proteins similar to the vertebrate HAPLN (hyaluronan/HA
                     and proteoglycan binding link) protein family which
                     includes cartilage link protein. The link domain is a
                     HA-binding domain. HAPLNs contain two...; cd03519"
                     /db_xref="CDD:239596"
     Site            253..254
                     /site_type="other"
                     /note="putative hyaluronan binding site [chemical
                     binding]"
                     /db_xref="CDD:239596"
     CDS             1..340
                     /gene="HAPLN2"
                     /gene_synonym="BRAL1"
                     /coded_by="XM_011509853.3:246..1268"
                     /db_xref="GeneID:60484"
                     /db_xref="HGNC:HGNC:17410"
                     /db_xref="MIM:619726"
ORIGIN      
        1 mpgwltlptl crfllwafti fhkaqgdpas hpgphyllpp ihevihshrg atatlpcvlg
       61 ttppsykvrw skvepgelre tlilitnglh argygplggr armrrghrld aslviagvrl
      121 edegryrcel ingiedesva ltlslegvvf pyqpsrgryq fnyyeakqac eeqdgrlaty
      181 sqlyqawteg ldwcnagwll egsvrypvlt arapcggrgr pgirsygprd rmrdrydafc
      241 ftsalagqvf fvpgrltlse ahaacrrrga vvakvghlya awkfsgldqc dggwladgsv
      301 rfpittprpr cgglpdpgvr sfgfprpqqa aygtycyaen
//
LOCUS       XP_047288231             317 aa            linear   PRI 20-MAR-2023
DEFINITION  proline/serine-rich coiled-coil protein 1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047288231
VERSION     XP_047288231.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432275.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..317
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..317
                     /product="proline/serine-rich coiled-coil protein 1
                     isoform X3"
                     /calculated_mol_wt=33850
     Region          8..122
                     /region_name="GTSE1_N"
                     /note="G-2 and S-phase expressed 1; pfam15259"
                     /db_xref="CDD:434581"
     Region          <47..317
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..317
                     /gene="PSRC1"
                     /gene_synonym="DDA3; FP3214"
                     /coded_by="XM_047432275.1:106..1059"
                     /db_xref="GeneID:84722"
                     /db_xref="HGNC:HGNC:24472"
                     /db_xref="MIM:613126"
ORIGIN      
        1 medleedvrf ivdetldfgg lspsdsreee ditvlvtpek plrrglshrs dpnavapapq
       61 gvrlslgpls pekleeilde anrlaaqleq calqdresag eglgprrvkp sprretfvlk
      121 dspvrdllpt vnsltrstps pssltprlrs ndrkgsvral ratsgkrpsn mkresptcnl
      181 fpaskspass pltrstppvr gragpsgraa aseetraakl rgaaaksssq lpipsaiprp
      241 asrmpltsrs vppgrgalpp dslstrkglp rpstaghrvr esghkvpvsq rlnlpvmgat
      301 rsnlqpprkv avpgptr
//
LOCUS       XP_016871401             332 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X11 [Homo
            sapiens].
ACCESSION   XP_016871401
VERSION     XP_016871401.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017015912.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..332
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..332
                     /product="tRNA (cytosine(72)-C(5))-methyltransferase NSUN6
                     isoform X11"
                     /calculated_mol_wt=36489
     Region          <1..65
                     /region_name="PUA"
                     /note="PUA RNA binding domain; cl41741"
                     /db_xref="CDD:425372"
     Region          <78..328
                     /region_name="RsmB"
                     /note="16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF
                     family [Translation, ribosomal structure and biogenesis];
                     COG0144"
                     /db_xref="CDD:223222"
     CDS             1..332
                     /gene="NSUN6"
                     /gene_synonym="4933414E04Rik; ARL5B-AS1; NOPD1"
                     /coded_by="XM_017015912.3:286..1284"
                     /db_xref="GeneID:221078"
                     /db_xref="HGNC:HGNC:23529"
                     /db_xref="MIM:617199"
ORIGIN      
        1 mkagdvisvy sdikgkckkg akefdgtkvf lgngiselsr keifsglpel kyvirgmgir
       61 mtepvylsps fdsvlprylf lqnlpsalvs hvlnpqpgek ildlcaapgg ktthiaalmh
      121 dqgevialdk ifnkvekikq nalllglnsi rafcfdgtka vkldmvedte geppflpesf
      181 drilldapcs gmgqrpnmac twsvkevasy qplqrklfta avqllkpegv lvystctitl
      241 aeneeqvawa ltkfpclqlq pqepqiggeg mrgaglsceq lkqlqrfdps avplpdtdmd
      301 slrearredm lrlankdsig ffiakfvkck st
//
LOCUS       XP_047280749             481 aa            linear   PRI 20-MAR-2023
DEFINITION  BEN domain-containing protein 7 isoform X7 [Homo sapiens].
ACCESSION   XP_047280749
VERSION     XP_047280749.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424793.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..481
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..481
                     /product="BEN domain-containing protein 7 isoform X7"
                     /calculated_mol_wt=52650
     Region          271..352
                     /region_name="BEN"
                     /note="BEN domain; pfam10523"
                     /db_xref="CDD:431337"
     CDS             1..481
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /coded_by="XM_047424793.1:36..1481"
                     /db_xref="GeneID:222389"
                     /db_xref="HGNC:HGNC:23514"
ORIGIN      
        1 meikkqitgm rrllndstgr iyqrvgkege klkeepqdld lvwpprlnss aeapqslhps
       61 srgvwnelpp qsgqfsgqyg trsrtfqsqp hpttssngmv vnkhsegshg gelpvvnssa
      121 gsncctcncq stlqailqel ktmrklmqiq avgtqnrqqp pislicsqrt avsrkrnkkk
      181 kvppktvepl tvkqkpsgse mekksvvase lsalqaaeht speesrvlgf givlespssd
      241 pevqlaegfd vfmpksqlds ilsnytrsgs llfrklvcaf fddktlansl pngkrkrgln
      301 dnrkgldqni vgaikvftek yctanhvdkl pgprdwvqil qdqiklarrr lkrgsaeiad
      361 sderldgial pptgacggpc tvlpggsaav tlvlqsspqt msqekgqmae pweeqhlvll
      421 nnltrdraet galsqtsqdf khhsflitqv satlhhqrgi rnfptpgsak sltlhiscls
      481 l
//
LOCUS       XP_047280963             339 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein phosphatase non-receptor type 20 isoform X7 [Homo
            sapiens].
ACCESSION   XP_047280963
VERSION     XP_047280963.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425007.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..339
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..339
                     /product="tyrosine-protein phosphatase non-receptor type
                     20 isoform X7"
                     /calculated_mol_wt=39053
     Region          127..333
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     CDS             1..339
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /coded_by="XM_047425007.1:536..1555"
                     /db_xref="GeneID:26095"
                     /db_xref="HGNC:HGNC:23423"
                     /db_xref="MIM:610630"
ORIGIN      
        1 mwtargpfrr drwssedeea agpsqalspl lsdtrkivse geldqlaqir plifnfheqt
       61 aikdclkile ektaaydimq efmalelknl pgefnsgnqp snreknryrd ilpydstrvp
      121 lgkskdyina syirivncge eyfyiatqgp llstiddfwq mvlennsnvi amitreiegg
      181 iikcyhywpi slkkplelkh frvflenyqi lqyfiirmfq vvekstgtsh svkqlqftkw
      241 pdhgtpasad sfikyiryar kshltgpmvv hcsagigrtg vflcvdvvfc aivkncsfni
      301 mdivaqmreq rsgmvqtkeq yhfcydivle vlrklltld
//
LOCUS       XP_016873106             256 aa            linear   PRI 20-MAR-2023
DEFINITION  ester hydrolase C11orf54 isoform X4 [Homo sapiens].
ACCESSION   XP_016873106
VERSION     XP_016873106.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017617.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..256
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..256
                     /product="ester hydrolase C11orf54 isoform X4"
                     /calculated_mol_wt=28552
     Region          14..245
                     /region_name="DUF1907"
                     /note="proteins similar to putative ester hydrolase
                     C11orf54/PTD012; cd17298"
                     /db_xref="CDD:341210"
     Site            order(98..99,110,160,207,209,219)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:341210"
     CDS             1..256
                     /gene="C11orf54"
                     /gene_synonym="PTD012; PTOD012"
                     /coded_by="XM_017017617.2:136..906"
                     /db_xref="GeneID:28970"
                     /db_xref="HGNC:HGNC:30204"
                     /db_xref="MIM:615810"
ORIGIN      
        1 macaefsfhv psleelagvm qkglkdnfad vqvsvvdcpd ltkepftfpv kgicgktria
       61 evggvpyllp lvnqkkvydl nkiakeiklp gafilgagag pfqtlgfnse vievkakrrt
      121 gplnfvtcmr etlekhygnk pigmggtfii qkgkvkshim paefsscpln sdeevnkwlh
      181 fyemkaplvc lpvfvsrdpg fdlrlehthf fsrhgegghy hydttpdive ylgyflpaef
      241 lyridqpket hsigrd
//
LOCUS       XP_016873143             947 aa            linear   PRI 20-MAR-2023
DEFINITION  N-acetyl-beta-glucosaminyl-glycoprotein
            4-beta-N-acetylgalactosaminyltransferase 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_016873143
VERSION     XP_016873143.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017654.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..947
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..947
                     /product="N-acetyl-beta-glucosaminyl-glycoprotein
                     4-beta-N-acetylgalactosaminyltransferase 1 isoform X1"
                     /calculated_mol_wt=106033
     Region          40..171
                     /region_name="PA14"
                     /note="PA14 domain; cl08459"
                     /db_xref="CDD:447642"
     Region          <381..548
                     /region_name="PHA03378"
                     /note="EBNA-3B; Provisional"
                     /db_xref="CDD:223065"
     Region          <619..928
                     /region_name="Glyco_tranf_GTA_type"
                     /note="Glycosyltransferase family A (GT-A) includes
                     diverse families of glycosyl transferases with a common
                     GT-A type structural fold; cl11394"
                     /db_xref="CDD:448240"
     Site            order(737,739,769,823,825)
                     /site_type="active"
                     /db_xref="CDD:132997"
     CDS             1..947
                     /gene="B4GALNT4"
                     /coded_by="XM_017017654.2:1594..4437"
                     /db_xref="GeneID:338707"
                     /db_xref="HGNC:HGNC:26315"
                     /db_xref="MIM:618560"
ORIGIN      
        1 mlfpggagrl plnfthqtpp wreeykgqvn lhvfedwcgg avghlrrnlh fplfphtrtt
       61 vkklavspkw knyglrifgf ihpardgdvq fsvasddnse fwlsldespa aaqlvafvgk
      121 tgsewtapge ftkfssqvsk prrlmasrry yfellhkqdd rgsdhvevgw raflpglkfe
      181 vissahisly tdesalkmdh vahvpqspas hvggrppqee tsadmlrpdp rdtffltprm
      241 essslenvle pcayaptyvv kdfpiaryqg lqfvylsfvy pndytrlthm etdnkcfyre
      301 splylerfgf ykymkmdkee gdedeedevq rraflflnpd dflddedege lldsleptea
      361 apprsgpqsp apaapaqpga tlapptpprp rdggtprhsr alswaaraar plplflgrap
      421 pprpaveqpp pkvyvtrvrp gqrasprapa prapwppfpg vflhprplpr vqlrapprpp
      481 rphgrrtggp qatqprppar aqatqggreg qartlgpaap tvdsnlssea rpvtsflsls
      541 qvsgpqlpge geeeeegedd gapgdeaase dseeaagpal grwredaidw qrtfsvgavd
      601 fellrsdwnd lrcnvsgnlq lpeaeavdvt aqymerlnar hggrfallri vnvekrrdsa
      661 rgsrfllele lqergggrlr lseyvflrlp garvgdadge spepapaasv rpdgrpelcr
      721 plrlawrqdv mvhfivpvkn qarwvaqfla dmaalhartg dsrfsvvlvd fesedmdver
      781 alraarlpry qylrrtgnfe rsaglqagvd avedassivf lcdlhihfpp nildgirkhc
      841 vegrlafapv vmrlscgssp rdphgywevn gfglfgiyks dfdrvggmnt eefrdqwgge
      901 dwelldrvlq agleverlrl rnfyhhyhsk rgmwsvrsrk gsrtgas
//
LOCUS       XP_047283175             838 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 6 regulatory subunit 3 isoform
            X9 [Homo sapiens].
ACCESSION   XP_047283175
VERSION     XP_047283175.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427219.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..838
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..838
                     /product="serine/threonine-protein phosphatase 6
                     regulatory subunit 3 isoform X9"
                     /calculated_mol_wt=93602
     Region          128..513
                     /region_name="SAPS"
                     /note="SIT4 phosphatase-associated protein; pfam04499"
                     /db_xref="CDD:398279"
     CDS             1..838
                     /gene="PPP6R3"
                     /gene_synonym="C11orf23; PP6R3; SAP190; SAPL; SAPLa;
                     SAPS3"
                     /coded_by="XM_047427219.1:361..2877"
                     /db_xref="GeneID:55291"
                     /db_xref="HGNC:HGNC:1173"
                     /db_xref="MIM:610879"
ORIGIN      
        1 mfwkfdlhss shidtllere dvtlkelmde edvlqeckaq nrkliefllk aecledlvsf
       61 iieeppqdmd ekirykypni scelltsdvs qmndrlgede sllmklysfl lndsplnpll
      121 asffskvlsi lisrkpeqiv dflkkkhdfv dliikhigts aimdlllrll tcieppqprq
      181 dvlnwlneek iiqrlveivh psqeedrhsn asqslceivr lsrdqmlqiq nstepdplla
      241 tlekqeiieq llsnifhkek nesaivsaiq illtlletrr ptfeghieic ppgmshsacs
      301 vnksvleair grlgsfhell leppkksvmk ttwgvldppv gntrlnvirl issllqtnts
      361 singdlmeln sigvilnmff kytwnnflht qveicialil aspfentena titdqdstgd
      421 nlllkhlfqk cqlierilea wemnekkqae ggrrhgymgh ltriancivh stdkgpnsal
      481 vqqlikdlpd evrerwetfc tsslgetnkr ntvdlmqqmt snfidqfgfn dekfadqddi
      541 gnvsfdrvsd inftlntnes gnialfeacc keriqqfddg gsdeediwee khiaftpesq
      601 rrsssgstds eestdseeed gakqdlfeps santedkmev dlseppnwsa nfdvpmetth
      661 gapldsvgsd vwsteepmpt ketgwasfse ftsslstkds lrsnspveme tstepmdplt
      721 psaaalavqp eaagsvamea ssdgeedaes tdkvtetvmn ggmketlslt vdaktetavf
      781 kseegklsts qdaackdaee cpetaeakca aprppssspe qrtgqpsapg dtsvngpv
//
LOCUS       XP_016874410            1043 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-dependent DNA helicase DDX11 isoform X4 [Homo sapiens].
ACCESSION   XP_016874410
VERSION     XP_016874410.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017018921.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_016874410.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1043
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1043
                     /product="ATP-dependent DNA helicase DDX11 isoform X4"
                     /calculated_mol_wt=116225
     Region          240..895
                     /region_name="rad3"
                     /note="DNA repair helicase (rad3); TIGR00604"
                     /db_xref="CDD:273169"
     CDS             1..1043
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /coded_by="XM_017018921.3:35..3166"
                     /db_xref="GeneID:1663"
                     /db_xref="HGNC:HGNC:2736"
                     /db_xref="MIM:601150"
ORIGIN      
        1 mvsasqkkge iwsmanetqk vgaihfpfpf tpysiqedfm aelyrvleag kigifesptg
       61 tgkslslicg alswlrdfeq kkreeearll etgtgplhde kdeslclsss cegaagtprp
      121 agepawvtqf vqkkeerdlv drlkaeqarr kqreerlqql qhrvqlkyaa krlrqeeeer
      181 enllrlsrem letgpeaerl eqlesgeeel vlaeyesdee kkvasrvded eddleeehit
      241 kiyycsrths qlaqfvhevk kspfgkdvrl vslgsrqnlc vnedvkslgs vqlindrcvd
      301 mqrsrhekkk gaeeekpkrr rqekqaacpf ynheqmgllr dealaevkdm eqllalgkea
      361 racpyygsrl aipaaqlvvl pyqmllhaat rqaagirlqd qvviideahn lidtitgmhs
      421 vevsgsqlcq ahsqllqyve rygkrlkakn lmylkqilyl lekfvavlgg nikqnpntqs
      481 lsqtgtelkt indflfqsqi dninlfkvqr yceksmisrk lfgfteryga vfssreqpkl
      541 agfqqflqsl qprttealaa padesqastl rpasplmhiq gflaalttan qdgrvilsrq
      601 gslsqstlkf lllnpavhfa qvvkecravv iaggtmqpaa gavetplllh svapgshvsq
      661 rklfcgfklk eknhdstfkr cltsgsscwp vpgwklsaww sfpvclaahl hlqfsappwl
      721 lpghvippdn ilplvicsgi snqpleftfq krelpqmmde vgrilcnlcg vvpggvvcff
      781 psyeylrqvh ahwekggllg rlaarkkifq epksahqveq vllaysrciq acgqergqvt
      841 galllsvvgg kmseginfsd nlgrcvvmvg mpfpnirsae lqekmayldq tlsprpgtpr
      901 egsggepvhe grqpvhrqgh qapegfcqrs apgpaicpap cpgqaagldp spcggqsylw
      961 prhcccaevs pgevglflmg nhttawrral plscpletvf vvgvvcgdpv tkvkprrrvw
     1021 speccqdpgt gvssrrrkwg npe
//
LOCUS       XP_047284913             556 aa            linear   PRI 20-MAR-2023
DEFINITION  cysteine sulfinic acid decarboxylase isoform X1 [Homo sapiens].
ACCESSION   XP_047284913
VERSION     XP_047284913.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428957.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..556
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..556
                     /product="cysteine sulfinic acid decarboxylase isoform X1"
                     /calculated_mol_wt=62367
     Region          89..552
                     /region_name="DOPA_deC_like"
                     /note="DOPA decarboxylase family. This family belongs to
                     pyridoxal phosphate (PLP)-dependent aspartate
                     aminotransferase superfamily (fold I). The major groups in
                     this CD correspond to DOPA/tyrosine decarboxylase (DDC),
                     histidine decarboxylase (HDC), and...; cd06450"
                     /db_xref="CDD:99743"
     Site            order(152..153,156,307,336,339,365,368)
                     /site_type="other"
                     /note="pyridoxal 5'-phosphate binding site [chemical
                     binding]"
                     /db_xref="CDD:99743"
     Site            368
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:99743"
     CDS             1..556
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /coded_by="XM_047428957.1:176..1846"
                     /db_xref="GeneID:51380"
                     /db_xref="HGNC:HGNC:18966"
                     /db_xref="MIM:616569"
ORIGIN      
        1 madsealpsl agdpvaveal lravfgvvvd eaiqkgtsvs qkvcewkepe elkqlldlel
       61 rsqgesqkqi lercraviry svktghprff nqlfsgldph alagriites lntsqytyei
      121 apvfvlmeee vlrklralvg wssgdgifcp ggsisnmyav nlaryqrypd ckqrglrtlp
      181 plalftskev gkrhrpnpgl lilissqlsr dlpgllpalp tsskaslppg gcasfqsrsv
      241 ttpsrrelrf wdlaptvsew srlmregkws priwrgrlvw prlrltfhff etfildsgav
      301 pflvsatsgt tvlgafdple aiadvcqrhg lwlhvdaawg gsvllsqthr hlldgiqrad
      361 svawnphkll aaglqcsall lqdtsnllkr chgsqasylf qqdkfydval dtgdkvvqcg
      421 rrvdclklwl mwkaqgdqgl erridqafvl arylveemkk regfelvmep efvnvcfwfv
      481 ppslrgkqes pdyherlskv apvlkermvk egsmmigyqp hgtrgnffrv vvansaltca
      541 dmdfllnele rlgqdl
//
LOCUS       XP_005266230            1083 aa            linear   PRI 20-MAR-2023
DEFINITION  fibrosin-1-like protein isoform X4 [Homo sapiens].
ACCESSION   XP_005266230
VERSION     XP_005266230.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005266173.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1083
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1083
                     /product="fibrosin-1-like protein isoform X4"
                     /calculated_mol_wt=115050
     Region          583..829
                     /region_name="Auts2"
                     /note="Autism susceptibility gene 2 protein; pfam15336"
                     /db_xref="CDD:434645"
     CDS             1..1083
                     /gene="FBRSL1"
                     /coded_by="XM_005266173.5:421..3672"
                     /db_xref="GeneID:57666"
                     /db_xref="HGNC:HGNC:29308"
                     /db_xref="MIM:620123"
ORIGIN      
        1 meakvrpsrr sraqrdrgrr reaardaraq spssgdepep spgkenaglr gapprgaapa
       61 prtarpprrr rresssqeee vidgfaiasf stlealekdm alkpherkek werrlikkpr
      121 esetcppaep senrrpleag spgqdlepac dgarkvplqp skqmkvtvsk ggdrdsddds
      181 vleatssrdp lsdssahavs grgyscdses gpddkasvgs eklfapgtdk gpalekseak
      241 agpvpkvsgl ersrelsaes flptaspaph aapcpgpppg sranplvkke ppaphrhtpq
      301 ppppqprgll pthvpaslga faghsqaaan glhglsrsss aplglgkhvs lsphgpgphl
      361 stshlalrsq aqhqlhaamf aapptlpppp alpasslvlp ghpadaslav sfsqpimycq
      421 phsgilidhe llrqelntrf lvqsaerpga slgpgallra efhqhqhthq hthqhthqhq
      481 htfapfpagl pptppaappp fdkyapklds pyfrhssffp sfppaipglp tllphpgpfg
      541 slqgafqpkt sspievarra gavhtllqka pgvsdpyrav vkkpgrwcav hvqiawqiyr
      601 hqqkikemql dphklevgak ldlfgrppap gvfagfhypq dlarplfpst gharewevkv
      661 hrgnwgapce qscrwealvl spgfcqtwlp ppgaahpasn pfgpsahpgs flptgpltdp
      721 fsrpstfggl gslsshafgg lgshalapgg sifapkegss vhglpsphea wnrlhrapps
      781 fpapppwpks vdaervsalt nhdrepdngk eeqerdllek trllsraspa tpaghpvsgl
      841 llraqselgr sgapaereae prvkesrspa keeaakmpar aspphskaap gdvkvkeerg
      901 edeaseppag glhpaplqlg lgrerlgapg fawepfrgle lprrafpaaa papgsaalle
      961 pperpyrdre phgysperlr geleraraph lppaapaldg allpslgalh fprlspaalh
     1021 ngllartppa aaalgapppl vtaagpptpp gpprsrttpl gglgpgeard yspsrnppev
     1081 ear
//
LOCUS       XP_016875318             220 aa            linear   PRI 20-MAR-2023
DEFINITION  protein CUSTOS isoform X1 [Homo sapiens].
ACCESSION   XP_016875318
VERSION     XP_016875318.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019829.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..220
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..220
                     /product="protein CUSTOS isoform X1"
                     /calculated_mol_wt=23721
     CDS             1..220
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /coded_by="XM_017019829.3:239..901"
                     /db_xref="GeneID:64897"
                     /db_xref="HGNC:HGNC:25719"
ORIGIN      
        1 mfcqnpgaan sqlstsqpsl rhkvneheqd gnelqttpef rahvakklga lldsfitise
       61 aakepakakv qkvaleddgf rlfftsvpgg rekeespqpr rkrqpsssse dsdeewrrcr
      121 eaavsasdil qesaihspgt vekeakkkrk lkkkakkvas vdsavaattp tsmatvqkqk
      181 sgelngdqvs lgtkkkkkak kasetspfpp aksataipan
//
LOCUS       XP_047285574             543 aa            linear   PRI 20-MAR-2023
DEFINITION  cysteine/serine-rich nuclear protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047285574
VERSION     XP_047285574.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429618.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..543
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..543
                     /product="cysteine/serine-rich nuclear protein 2 isoform
                     X1"
                     /calculated_mol_wt=59460
     Region          62..279
                     /region_name="CSRNP_N"
                     /note="Cysteine/serine-rich nuclear protein N-terminus;
                     pfam16019"
                     /db_xref="CDD:435075"
     CDS             1..543
                     /gene="CSRNP2"
                     /gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
                     TAIP-12"
                     /coded_by="XM_047429618.1:698..2329"
                     /db_xref="GeneID:81566"
                     /db_xref="HGNC:HGNC:16006"
ORIGIN      
        1 mdaftgsglk rkfddvdvgs svsnsddeis ssdsadscds lnppttasft ptsilkrqkq
       61 lrrknvrfdq vtvyyfarrq gftsvpsqgg sslgmaqrhn svrsytlcef aqeqevnhre
      121 ilrehlkeek lhakkmkltk ngtvesvead gltlddvsde didvenvevd dyfflqplpt
      181 krrrallras gvhridaeek qelrairlsr eecgcdcrly cdpeacacsq agikcqvdrm
      241 sfpcgcsrdg cgnmagrief npirvrthyl htimkleles krqvsrpaap deepsptasc
      301 sltgaqgset qdfqefiaen etavmhlqsa eelerlkaee dssgssasld ssieslgvci
      361 leeplavpee lcpgltapil iqaqlppgss vlcftensdh ptastvnsps ylnsgplvyy
      421 qveqrpvlgv kgepgteegs asfpkekdln vfslpvtslv acsstdpaal cksevgktpt
      481 leallpedcn peepenedfh pswspsslpf rtdneegcgm vktsqqnedr ppedsslelp
      541 lav
//
LOCUS       XP_047285715             981 aa            linear   PRI 20-MAR-2023
DEFINITION  liprin-beta-1 isoform X26 [Homo sapiens].
ACCESSION   XP_047285715
VERSION     XP_047285715.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429759.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..981
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..981
                     /product="liprin-beta-1 isoform X26"
                     /calculated_mol_wt=110175
     Region          <102..521
                     /region_name="PTZ00108"
                     /note="DNA topoisomerase 2-like protein; Provisional"
                     /db_xref="CDD:240271"
     Region          103..>311
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          614..677
                     /region_name="SAM_liprin-beta1,2_repeat1"
                     /note="SAM domain of liprin-beta1,2 proteins repeat 1;
                     cd09563"
                     /db_xref="CDD:188962"
     Region          688..750
                     /region_name="SAM_liprin-beta1,2_repeat2"
                     /note="SAM domain of liprin-beta1,2 proteins repeat 2;
                     cd09566"
                     /db_xref="CDD:188965"
     Region          773..844
                     /region_name="SAM_liprin-beta1,2_repeat3"
                     /note="SAM domain of liprin-beta proteins repeat 3;
                     cd09569"
                     /db_xref="CDD:188968"
     CDS             1..981
                     /gene="PPFIBP1"
                     /gene_synonym="hSGT2; hSgt2p; L2; NEDSMBA; SGT2"
                     /coded_by="XM_047429759.1:284..3229"
                     /db_xref="GeneID:8496"
                     /db_xref="HGNC:HGNC:9249"
                     /db_xref="MIM:603141"
ORIGIN      
        1 mmsdasdmla aaleqmdgii agskaleysn gifdcqspts pfmgslralh lvedlrglle
       61 mmetdekegl rcqipdstae tlvewlqsqm tnghlpgngd vyqerlarle ndkeslvlqv
      121 svltdqveaq gekirdlefc leehrekvna teemlqqell srtsletqkl dlmaeisnlk
      181 lkltavekdr ldyedkfrdt egliqeindl rlkvsemdse rlqyekklks tkdelaslke
      241 qleekesevk rlqeklvckm kgegveivdr dievqkmkka veslmaanee kdrkiedlrq
      301 clnrykkmqd tvvlaqgkdg eyeellnsss isslldaqgf sdlekspspt pvmgspscdp
      361 fntsvpeefh ttilqvsips llpatvsmet sekskltpkp etsfeendgn iilgatvdtq
      421 lcdklltssl qkssslgnlk ketsdgdrap aesrpfgtlp prppgqdtsm ddnpfgtrkv
      481 rssfgrgffk iksnkrtasa pnldrkrsas aptlaeteke taehldlaga ssrpkdsqrn
      541 spfqipppsp dskkksrgim klfgklrrsq sttfnpddms epefkrggtr atagprlgws
      601 rdlgqsnsdl dmpfakwtke qvcnwlmeqg lgsylnsgkh wiasgqtllq asqqdlekel
      661 gikhslhrkk lqlalqalgs eeetnhgkld fnwvtrwldd iglpqyktqf degrvdgrml
      721 hymtvddlls lkvvsvlhhl sikraiqvlr innfepnclr rrpsdentia psevqkwtnh
      781 rvmewlrsvd laeyapnlrg sgvhgglmvl eprfnvetma qllnippnkt llrrhlathf
      841 nlligaeaqh qkrdamelpd yvlltatakv kpkklafsnf gnlrkkkqed geeyvcpmel
      901 gqasgsaskk gfkpgldmrl yeeddldrle qmedsegtvr qigafsegin nlthmlkedd
      961 mfkdfaarsp sasitdedsn v
//
LOCUS       XP_047285975             344 aa            linear   PRI 20-MAR-2023
DEFINITION  lysophosphatidic acid receptor 6 isoform X1 [Homo sapiens].
ACCESSION   XP_047285975
VERSION     XP_047285975.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430019.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..344
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..344
                     /product="lysophosphatidic acid receptor 6 isoform X1"
                     /calculated_mol_wt=39261
     Region          18..302
                     /region_name="7tmA_LPAR6_P2Y5"
                     /note="lysophosphatidic acid receptor 6, member of the
                     class A family of seven-transmembrane G protein-coupled
                     receptors; cd15156"
                     /db_xref="CDD:320284"
     Region          18..45
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320284"
     Region          52..77
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320284"
     Site            order(73,76..77,89..94,96..97,100,145,147..151,181,
                     184..186,188..190,192..193,242,245..246,248..249,252,
                     269..270,272..274,277,280..281)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320284"
     Region          89..119
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320284"
     Region          131..153
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320284"
     Region          181..210
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320284"
     Region          222..252
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320284"
     Region          270..295
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320284"
     CDS             1..344
                     /gene="LPAR6"
                     /gene_synonym="ARWH1; HYPT8; LAH3; LPA-6; P2RY5; P2Y5"
                     /coded_by="XM_047430019.1:1260..2294"
                     /db_xref="GeneID:10161"
                     /db_xref="HGNC:HGNC:15520"
                     /db_xref="MIM:609239"
ORIGIN      
        1 mvsvnsshcf yndsfkytly gcmfsmvfvl glisncvaiy ificvlkvrn etttyminla
       61 msdllfvftl pfrifyfttr nwpfgdllck isvmlfytnm ygsilfltci svdrflaivy
      121 pfksktlrtk rnakivctgv wltviggsap avfvqsthsq gnnaseacfe nfpeatwkty
      181 lsrivifiei vgffipliln vtcssmvlkt ltkpvtlsrs kinktkvlkm ifvhliifcf
      241 cfvpyninli lyslvrtqtf vncsvvaavr tmypitlcia vsnccfdpiv yyftsdtiqn
      301 sikmknwsvr rsdfrfsevh gaenfiqhnl qtlkskifdn esaa
//
LOCUS       XP_047286115             485 aa            linear   PRI 20-MAR-2023
DEFINITION  ras GTPase-activating protein 3 isoform X5 [Homo sapiens].
ACCESSION   XP_047286115
VERSION     XP_047286115.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430159.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..485
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..485
                     /product="ras GTPase-activating protein 3 isoform X5"
                     /calculated_mol_wt=55725
     Region          1..101
                     /region_name="C2A_RasA2_RasA3"
                     /note="C2 domain first repeat present in RasA2 and RasA3;
                     cd08401"
                     /db_xref="CDD:176046"
     Site            order(3,50,52,57)
                     /site_type="other"
                     /note="putative Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176046"
     Region          114..256
                     /region_name="C2B_RasA3"
                     /note="C2 domain second repeat present in RAS p21 protein
                     activator 3 (RasA3); cd04010"
                     /db_xref="CDD:175977"
     Site            order(121,133,186,188,209,211)
                     /site_type="other"
                     /note="putative Ca2+ binding pocket [ion binding]"
                     /db_xref="CDD:175977"
     Region          265..>472
                     /region_name="RasGAP"
                     /note="Ras GTPase Activating Domain; cl02569"
                     /db_xref="CDD:445837"
     CDS             1..485
                     /gene="RASA3"
                     /gene_synonym="GAP1IP4BP; GAPIII"
                     /coded_by="XM_047430159.1:42..1499"
                     /db_xref="GeneID:22821"
                     /db_xref="HGNC:HGNC:20331"
                     /db_xref="MIM:605182"
ORIGIN      
        1 mrdcyctvnl dqeevfrtki vekslcpfyg edfyceiprs frhlsfyifd rdvfrrdsii
       61 gkvaiqkedl qkyhnrdtwf qlqhvdadse vqgkvhlelr lsevitdtgv vchklatriv
      121 ecqglpivng qcdpyatvtl agpfrseakk tkvkrktnnp qfdevfyfev trpcsyskks
      181 hfdfeeedvd kleirvdlwn asnlkfgdef lgelriplkv lrqsssyeaw yflqprdngs
      241 kslkpddlgs lrlnvvyted hvfssdyysp lrdlllksad vepvsasaah ilgevcrekq
      301 eaavplvrlf lhygrvvpfi saiasaevkr tqdpntifrg nslaskcide tmklagmhyl
      361 hvtlkpaiee icqshkpcei dpvklkdgen lennmenlrq yvdrvfhait esgvscptvm
      421 cdiffslrea aakrfqddpd vrytavssfi flrffapail spnlfqltph htkihvknlp
      481 hlres
//
LOCUS       XP_005254089             927 aa            linear   PRI 20-MAR-2023
DEFINITION  cilium assembly protein DZIP1 isoform X2 [Homo sapiens].
ACCESSION   XP_005254089
VERSION     XP_005254089.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005254032.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..927
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..927
                     /product="cilium assembly protein DZIP1 isoform X2"
                     /calculated_mol_wt=105328
     Region          104..224
                     /region_name="Dzip-like_N"
                     /note="Iguana/Dzip1-like DAZ-interacting protein
                     N-terminal; pfam13815"
                     /db_xref="CDD:433498"
     Region          246..267
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <277..>488
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..927
                     /gene="DZIP1"
                     /gene_synonym="DZIP; DZIPt1; MVP3; SPGF47"
                     /coded_by="XM_005254032.1:856..3639"
                     /db_xref="GeneID:22873"
                     /db_xref="HGNC:HGNC:20908"
                     /db_xref="MIM:608671"
ORIGIN      
        1 mqaeaadwfs smvrggrpgr prrgcragen rgfpgppapq parppspppa alslcppqpf
       61 qkhvyyplas gpegpdvava aaaagaasma cappsaasgp lpffqfrprl esvdwrrlsa
      121 idvdkvagav dvltlqenim nitfcklede kcphcqsgvd pvllklirla qftieyllhs
      181 qefltsqlht leerlrlshc dgeqskkllt kqageiktlk eeckrrkkmi stqqlmieak
      241 anyyqchfcd kafmnqaflq shiqrrhtee nshfeyqkna qieklrseiv vlkeelqltr
      301 seleaahhas avrfskeyem qktkeedflk lfdrwkeeek eklvdemekv kemfmkefke
      361 ltsknsaley qlseiqksnm qiksnigtlk dahefkedrs pypqdfhnvm qlldsqeskw
      421 tarvqaihqe hkkekgrlls hieklrtsmi ddlnasnvfy kkrieelgqr lqeqneliit
      481 qrqqikdftc nplnsisepk gnplawqafe sqpaapavpm napalhtlet ksslpmvheq
      541 afsshilepi eelseeekgr eneqklnnnk mhlrkalksn ssltkglrtm veqnlmekle
      601 tlginadirg issdqlhrvl ksveserhkq ereipnfhqi reflehqvsc kieekallss
      661 dqcsvsqmdt lstgevpkmi qlpsknrqli rqkavstdrt svpkikknvm edpfprksst
      721 itseeeqedd dlirayaspg plpvpppqnk gsfgkntvks dadgtegsei edtddspkpa
      781 gvavktptek vekmfphrkn vnkpvggtnv pemfikkeel qelkcadved edwdisslee
      841 eislgkksgk eqkepppakn ephfahvlna wgafnpkgpk geglllspli qarsifllvv
      901 fhlykylinl cwyiirqksc qcflyvi
//
LOCUS       XP_005268360            1139 aa            linear   PRI 20-MAR-2023
DEFINITION  phospholipid-transporting ATPase IH isoform X3 [Homo sapiens].
ACCESSION   XP_005268360
VERSION     XP_005268360.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005268303.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1139
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..1139
                     /product="phospholipid-transporting ATPase IH isoform X3"
                     /calculated_mol_wt=130223
     Region          47..983
                     /region_name="P-type_ATPase_APLT_Dnf-like"
                     /note="Aminophospholipid translocases (APLTs), similar to
                     Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2,
                     -10D, -11B, -11C; cd02073"
                     /db_xref="CDD:319770"
     Site            order(414..416,553,576..578,640,687..689,798,801,804,825,
                     828)
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:319770"
     Region          <965..1061
                     /region_name="RDD"
                     /note="RDD family; cl00746"
                     /db_xref="CDD:445074"
     CDS             1..1139
                     /gene="ATP11A"
                     /gene_synonym="ATPIH; ATPIS; DFNA84; HLD24"
                     /coded_by="XM_005268303.5:380..3799"
                     /db_xref="GeneID:23250"
                     /db_xref="HGNC:HGNC:13552"
                     /db_xref="MIM:605868"
ORIGIN      
        1 mdcslvrtlv hrycageenw vdsrtiyvgh repppgaeay ipqrypdnri vsskytfwnf
       61 ipknlfeqfr rvanfyflii flvqliidtp tspvtsglpl ffvitvtaik qgyedwlrhk
      121 adnamnqcpv hfiqhgklvr kqsrklrvgd ivmvkedetf pcdliflssn rgdgtchvtt
      181 asldgesshk thyavqdtkg fhteediggl hatieceqpq pdlykfvgri nvysdlndpv
      241 vrplgsenll lrgatlknte kifgvaiytg metkmalnyq sksqkrsave ksmnaflivy
      301 lciliskali ntvlkymwqs epfrdepwyn qkteserqrn lflkaftdfl afmvlfnyii
      361 pvsmyvtvem qkflgsyfit wdedmfdeet gegplvntsd lneelgqvey iftdktgtlt
      421 ennmefkecc ieghvyvphv icngqvlpes sgidmidssp svngrereel ffralclcht
      481 vqvkdddsvd gprkspdggk scvyissspd evalvegvqr lgftylrlkd nymeilnren
      541 hierfellei lsfdsvrrrm svivksatge iylfckgads sifprviegk vdqirarver
      601 naveglrtlc vaykrliqee yegickllqa akvalqdrek klaeayeqie kdltllgata
      661 vedrlqekaa dtiealqkag ikvwvltgdk metaaatcya cklfrrntql lelttkriee
      721 qslhdvlfel sktvlrhsgs ltrdnlsgls admqdyglii dgaalslimk predgssgny
      781 relfleicrs csavlccrma plqkaqivkl ikfskehpit laigdgandv smileahvgi
      841 gvigkegrqa arnsdyaipk fkhlkkmllv hghfyyiris elvqyffykn vcfifpqfly
      901 qffcgfsqqt lydtayltly nisftslpil lyslmeqhvg idvlkrdptl yrdvaknall
      961 rwrvfiywtl lglfdalvff fgayfvfent tvtsngqifg nwtfgtlvft vmvftvtlkl
     1021 aldthywtwi nhfviwgsll fyvvfsllwg gviwpflnyq rmyyvfiqml ssgpawlaiv
     1081 llvtisllpd vlkkvlcrql wptatervqr gvkhkapvqa aqssdgpllk dllrrprrs
//
LOCUS       XP_047286446             313 aa            linear   PRI 20-MAR-2023
DEFINITION  replication factor C subunit 3 isoform X2 [Homo sapiens].
ACCESSION   XP_047286446
VERSION     XP_047286446.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430490.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..313
                     /product="replication factor C subunit 3 isoform X2"
                     /calculated_mol_wt=35508
     Region          3..>207
                     /region_name="rfc"
                     /note="replication factor C small subunit; Reviewed;
                     PRK00440"
                     /db_xref="CDD:234763"
     Region          187..252
                     /region_name="HLD_clamp"
                     /note="helical lid domain of clamp loader-like AAA+
                     proteins; cl38921"
                     /db_xref="CDD:365797"
     Site            order(223..224,227)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350838"
     CDS             1..313
                     /gene="RFC3"
                     /gene_synonym="RFC38"
                     /coded_by="XM_047430490.1:31..972"
                     /db_xref="GeneID:5983"
                     /db_xref="HGNC:HGNC:9971"
                     /db_xref="MIM:600405"
ORIGIN      
        1 mslwvdkyrp cslgrldyhk eqaaqlrnlv qcgdfphllv ygpsgagkkt rimcilrely
       61 gvgveklrie hqtittpskk kieistiasn yhlevnpsda gnsdrvviqe mlktvaqsqq
      121 letnsqrdfk vvlltevdkl tkdaqhalrr tmekymstcr lilccnstsk vippirsrcl
      181 avrvpapsie dichvlstvc kkeglnlpsq lahrlaeksc rnlrkallmc eacrvqqypf
      241 tadqeipetd wevylretan aivsqqtpqr llevrgrlye llthcippei imklkdetgl
      301 smitqsfidp thh
//
LOCUS       XP_024305184             872 aa            linear   PRI 20-MAR-2023
DEFINITION  tudor domain-containing protein 3 isoform X2 [Homo sapiens].
ACCESSION   XP_024305184
VERSION     XP_024305184.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024449416.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_024305184.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..872
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..872
                     /product="tudor domain-containing protein 3 isoform X2"
                     /calculated_mol_wt=97222
     Region          79..229
                     /region_name="RMI1_N"
                     /note="RecQ mediated genome instability protein;
                     pfam08585"
                     /db_xref="CDD:430090"
     Region          351..389
                     /region_name="UBA_TDRD3"
                     /note="UBA domain of Tudor domain-containing protein 3
                     (TDRD3) and similar proteins; cd14282"
                     /db_xref="CDD:270468"
     Region          713..765
                     /region_name="Tudor_TDRD3"
                     /note="Tudor domain found in Tudor domain-containing
                     protein 3 (TDRD3) and similar proteins; cd20413"
                     /db_xref="CDD:410484"
     Site            order(723..725,730,748,751,753,755)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:410484"
     CDS             1..872
                     /gene="TDRD3"
                     /coded_by="XM_024449416.2:15530..18148"
                     /db_xref="GeneID:81550"
                     /db_xref="HGNC:HGNC:20612"
                     /db_xref="MIM:614392"
ORIGIN      
        1 msidgkmnke nvvytvdleq ygfelcefty twiffdfyha ttetarptpp llpppqptqh
       61 ednededlnd glfphneqyl sdegieacts spdkvnvndi ilialntdlr tigkkflpsd
      121 insgkvekle gpcvlqiqki rnvaapkdne esqaaprmlr lqmtdghisc tavefsymsk
      181 islntppgtk vklsgivdik ngflllndsn ttvlggeveh liekwelqrs lskhnrsnig
      241 teggpppfvp fgqkcvshvq vdsreldrrk tlqvtmpvkp tndndefekq rtaaiaevak
      301 sketktfggg gggarsnlnm naagnrnrev lqkekstkse gkhegvyrel vdekalkhit
      361 emgfskeasr qalmdngnnl eaalnvllts nkqkpvmgpp lrgrgkgrgr irsedeedlg
      421 narpsapstl fdfleskmgt lnveepksqp qqlhqgqyrs snteqngvkd nnhlrhpprn
      481 dtrqprnekp prfqrdsqns ksvlegsglp rnrgserpst ssvsevwaed rikcdrpysr
      541 ydrtkdtsyp lgsqhsdgaf kkrdnsmqsr sgkgpsfaea kenplpqgsv dynnqkrgkr
      601 esqtsipdyf ydrksqtinn eafsgikiek hfnvntdyqn pvrsnsfigv pngevemplk
      661 grrigpikpa gpvtavpcdd kifynsgpkr rsgpikpeki lessipmeya kmwkpgdecf
      721 alywednkfy raevealhss gmtavvkfid ygnyeevlls nikpiqteaw agkhfqtlcf
      781 ilkgfgekgs lssrgagnaq eesedlgssp gsatyylcdf grkkaptikl wssvgevmas
      841 qddplgqpns ftnhpglgtn rkrlfvkkra sd
//
LOCUS       XP_047286875              64 aa            linear   PRI 20-MAR-2023
DEFINITION  39S ribosomal protein L52, mitochondrial isoform X2 [Homo sapiens].
ACCESSION   XP_047286875
VERSION     XP_047286875.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430919.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..64
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..64
                     /product="39S ribosomal protein L52, mitochondrial isoform
                     X2"
                     /calculated_mol_wt=7313
     Region          <1..54
                     /region_name="MRPL52"
                     /note="Mitoribosomal protein mL52; pfam18699"
                     /db_xref="CDD:436673"
     CDS             1..64
                     /gene="MRPL52"
                     /coded_by="XM_047430919.1:286..480"
                     /db_xref="GeneID:122704"
                     /db_xref="HGNC:HGNC:16655"
                     /db_xref="MIM:611856"
ORIGIN      
        1 mkgqlrrkae retfarrvvl lsqemdaglq awqlrqqklq eeqrkqenal kpkgaslksp
       61 lpsq
//
LOCUS       XP_047288557            1392 aa            linear   PRI 20-MAR-2023
DEFINITION  neogenin isoform X21 [Homo sapiens].
ACCESSION   XP_047288557
VERSION     XP_047288557.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432601.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1392
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1392
                     /product="neogenin isoform X21"
                     /calculated_mol_wt=152410
     Region          52..148
                     /region_name="IgI_1_Neogenin_like"
                     /note="First immunoglobulin (Ig)-like domain in neogenin,
                     and similar domains; member of the I-set of Ig superfamily
                     (IgSF) domains; cd05722"
                     /db_xref="CDD:409387"
     Region          52..55
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409387"
     Region          58..64
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409387"
     Region          68..78
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409387"
     Region          82..88
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409387"
     Region          90..93
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409387"
     Region          100..105
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409387"
     Region          107..113
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409387"
     Region          125..132
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409387"
     Region          137..148
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409387"
     Region          152..224
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          169..173
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          182..186
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          204..208
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          218..223
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          250..337
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          266..270
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          279..283
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          303..307
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          317..322
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          330..333
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          344..427
                     /region_name="IgI_4_Neogenin_like"
                     /note="Fourth immunoglobulin (Ig)-like domain in neogenin,
                     and similar domains; member of the I-set of Ig superfamily
                     (IgSF) domains; cd05723"
                     /db_xref="CDD:409388"
     Region          344..347
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409388"
     Region          349..353
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409388"
     Region          356..365
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409388"
     Region          370..376
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409388"
     Region          378..381
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409388"
     Region          386..390
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409388"
     Region          394..398
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409388"
     Region          406..414
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409388"
     Region          417..427
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409388"
     Region          439..532
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(439,505,520)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(521..522,524..525)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          539..628
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(539,601,616)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(617..618,620..621)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          636..728
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(717..718,720..721)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          739..818
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Site            order(739,801,816)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(817..818,820..821)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          840..933
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(922..923,925..926)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          940..1035
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(1024..1025,1027..1028)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1142..1392
                     /region_name="Neogenin_C"
                     /note="Neogenin C-terminus; pfam06583"
                     /db_xref="CDD:429016"
     CDS             1..1392
                     /gene="NEO1"
                     /gene_synonym="IGDCC2; NGN; NTN1R2"
                     /coded_by="XM_047432601.1:214..4392"
                     /db_xref="GeneID:4756"
                     /db_xref="HGNC:HGNC:7754"
                     /db_xref="MIM:601907"
ORIGIN      
        1 maaergarrl lstpsfwlyc llllgrrapg aaaarsgsap qspgasirtf tpfyflvepv
       61 dtlsvrgssv ilncsaysep spkiewkkdg tflnlvsddr rqllpdgslf isnvvhskhn
      121 kpdegyyqcv atveslgtii srtaklivag lprftsqpep ssvyagnnai lncevnadlv
      181 pfvrweqnrq plllddrvik lpsgmlvisn ategdgglyr cvvesggppk ysdevelkvl
      241 pdpevisdlv flkqpsplvr vigqdvvlpc vasglptpti kwmkneeald tesserlvll
      301 aggsleisdv teddagtyfc iadngnetie aqaeltvqaq peflkqptni yahesmdivf
      361 ecevtgkptp tvkwvkngdm vipsdyfkiv kehnlqvlgl vksdegfyqc iaendvgnaq
      421 agaqliileh apattgplps aprdvvaslv strfikltwr tpasdphgdn ltysvfytke
      481 giarervent shpgemqvti qnlmpatvyi frvmaqnkhg sgessaplrv etqpevqlpg
      541 papnlrayaa sptsitvtwe tpvsgngeiq nyklyymekg tdkeqdvdvs shsytinglk
      601 kyteysfrvv aynkhgpgvs tpdvavrtls dvpsaapqnl slevrnsksi mihwqppapa
      661 tqngqitgyk iryrkasrks dvtetlvsgt qlsqliegld rgteynfrva altingtgpa
      721 tdwlsaetfe sdldetrvpe vpsslhvrpl vtsivvswtp penqnivvrg yaigygigsp
      781 haqtikvdyk qryytienld psshyvitlk afnnvgegip lyesavtrph tvpdptpmmp
      841 pvgvqasils hdtiritwad nslpkhqkit dsryytvrwk tnipantkyk nanattlsyl
      901 vtglkpntly efsvmvtkgr rsstwsmtah gttfelvpts ppkdvtvvsk egkpktiivn
      961 wqppseangk itgyiiyyst dvnaeihdwv iepvvgnrlt hqiqeltldt pyyfkiqarn
     1021 skgmgpmsea vqfrtpkads sdkmpndqas gsggkgsrlp dlgsdykppm sgsnsphgsp
     1081 tspldsnmll viivsvgvit ivvvviiavf ctrrttshqk kkraacksvn gshkykgnsk
     1141 dvkppdlwih herlelkpid kspdpnpimt dtpiprnsqd itpvdnsmds nihqrrnsyr
     1201 ghesedsmst lagrrgmrpk mmmpfdsqpp qqsvrntpst dtmpasssqt cctdhqdpeg
     1261 atsssylass qeedsgqslp tahvrpshpl ksfavpaipp pgpptydpal pstpllsqqa
     1321 lnhhihsvkt asigtlgrsr ppmpvvvpsa pevqettrml edsessyepd eltkemahle
     1381 glmkdlnait ta
//
LOCUS       XP_047288726             529 aa            linear   PRI 20-MAR-2023
DEFINITION  myotubularin-related protein 10 isoform X1 [Homo sapiens].
ACCESSION   XP_047288726
VERSION     XP_047288726.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432770.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..529
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..529
                     /product="myotubularin-related protein 10 isoform X1"
                     /calculated_mol_wt=60374
     Region          31..224
                     /region_name="PTP-MTMR10"
                     /note="protein tyrosine phosphatase-like pseudophosphatase
                     domain of myotubularin related phosphoinositide
                     phosphatase 10; cd14593"
                     /db_xref="CDD:350441"
     Region          330..457
                     /region_name="3-PAP"
                     /note="Myotubularin-associated protein; pfam12578"
                     /db_xref="CDD:432649"
     CDS             1..529
                     /gene="MTMR10"
                     /coded_by="XM_047432770.1:730..2319"
                     /db_xref="GeneID:54893"
                     /db_xref="HGNC:HGNC:25999"
ORIGIN      
        1 mistclpeyi vvpssladqd lkifshsfvg rrmplwcwsh sngsalvrma likdvlqqrk
       61 idqricnait kshpqrsdvy ksdldktlpn iqevqaafvk lkqlcvnepf eeteekwlss
      121 lentrwleyv raflkhsael vymleskhls vvlqeeegrd lsccvaslvq vmldpyfrti
      181 tgfqsliqke wvmagyqfld rcnhlkrsek esplfllfld atwqlleqyp aafefsetyl
      241 avlydstris lfgtflfnsp hqrvkqstef aiskniqlgd ekglkfpsvw dwslqftakd
      301 rtlfhnpfyi gkstpciqng svksfkrtkk sysstlrgmp salkngiisd qellprrnsl
      361 ilkpkpdpaq qtdsqnsdte qyfrewfskp anlhgvilpr vsgthiklwk lcyfrwvpea
      421 qislggsita fhklsllade vdvlsrmlrq qrsgpleacy gelgqsrmyf nasgphhtdt
      481 sgtpeflsss fpfspvgnlc rrsilgtpls kflsgakiwl stetlaned
//
LOCUS       XP_024306111             308 aa            linear   PRI 20-MAR-2023
DEFINITION  palmitoyltransferase ZDHHC7 isoform X2 [Homo sapiens].
ACCESSION   XP_024306111
VERSION     XP_024306111.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024450343.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..308
                     /product="palmitoyltransferase ZDHHC7 isoform X2"
                     /calculated_mol_wt=35009
     Region          131..258
                     /region_name="DHHC"
                     /note="DHHC palmitoyltransferase; pfam01529"
                     /db_xref="CDD:396215"
     CDS             1..308
                     /gene="ZDHHC7"
                     /gene_synonym="DHHC7; SERZ-B; SERZ1; ZNF370"
                     /coded_by="XM_024450343.2:20..946"
                     /db_xref="GeneID:55625"
                     /db_xref="HGNC:HGNC:18459"
                     /db_xref="MIM:614604"
ORIGIN      
        1 mqpsghrlrd vehhpllaen dnydssssss seadvadrvw firdgcgmic avmtwllvay
       61 adfvvtfvml lpskdfwysv vngvifncla vlalsshlrt mltdpgavpk gnatkeymes
      121 lqlkpgeviy kcpkcccikp erahhcsick rcirkmdhhc pwvnncvgek nqrffvlftm
      181 yialssvhal ilcgfqfisc vrgqwtecsd fsppitvill iflclegllf ftftavmfgt
      241 qihsicndet eierlksekp twerrlrweg mksvfggpps llwmnpfvgf rfrrlptrpr
      301 kggpefsv
//
LOCUS       XP_047293334             855 aa            linear   PRI 20-MAR-2023
DEFINITION  band 4.1-like protein 3 isoform X25 [Homo sapiens].
ACCESSION   XP_047293334
VERSION     XP_047293334.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437378.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..855
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..855
                     /product="band 4.1-like protein 3 isoform X25"
                     /calculated_mol_wt=95377
     Region          112..301
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          296..389
                     /region_name="FERM_C_4_1_family"
                     /note="FERM domain C-lobe of Protein 4.1 family; cd13184"
                     /db_xref="CDD:270005"
     Site            order(305,322,324,330)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270005"
     Site            order(334,339..342,377,381,384..385)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Site            377..388
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Region          398..441
                     /region_name="FA"
                     /note="FERM adjacent (FA); pfam08736"
                     /db_xref="CDD:430180"
     Region          537..584
                     /region_name="SAB"
                     /note="SAB domain; pfam04382"
                     /db_xref="CDD:427911"
     Region          776..>855
                     /region_name="4_1_CTD"
                     /note="4.1 protein C-terminal domain (CTD); pfam05902"
                     /db_xref="CDD:428665"
     CDS             1..855
                     /gene="EPB41L3"
                     /gene_synonym="4.1B; DAL-1; DAL1"
                     /coded_by="XM_047437378.1:97..2664"
                     /db_xref="GeneID:23136"
                     /db_xref="HGNC:HGNC:3380"
                     /db_xref="MIM:605331"
ORIGIN      
        1 mttesgsdse skpdqeaepq eaagaqgrag apvpeppkee qqqaleqfaa aaahstpvrr
       61 evtdkeqefa araakqleyq qleddklsqk ssssklsrsp lkivkkpksm qckvilldgs
      121 eytcdvekrs rgqvlfdkvc ehlnllekdy fgltyrdaen qknwldpake ikkqvrsgaw
      181 hfsfnvkfyp pdpaqlsedi tryylclqlr ddivsgrlpc sfvtlallgs ytvqselgdy
      241 dpdecgsdyi sefrfapnht keledkviel hkshrgmtpa eaemhflena kklsmygvdl
      301 hhakdsegve imlgvcasgl liyrdrlrin rfawpkvlki sykrnnfyik irpgefeqfe
      361 stigfklpnh raakrlwkvc vehhtffrll lpeappkkfl tlgskfrysg rtqaqtrras
      421 alidrpapyf erssskrytm srsldgasvn enheiymkds msaaevgtgq yattkgisqt
      481 nlittvtpek kaeeerdeee dkrrkgeevt pisairhegk tdsertdtaa dgettateel
      541 ektqddlmkh qtniselkrt fletstdtav tnewekrlst spvrlaarqe dapmieplvp
      601 eetkeeteis ekviflqqgs apflesqkme tktessgiet eptvhhlpls tekvvqetvl
      661 veerrvvhas gdasysagds gdaaaqpaft gikgkegsal tegakeegge evakavleqe
      721 etaaasrerq eeqsaaihis etleqkphfe sstvktetis fgsvspggvk leistkevpv
      781 vhtetktity essqvdpgtd lepgvlmsaq titsettstt ttthitktvk ggisetriek
      841 rivitgdadi dhdqe
//
LOCUS       XP_047293883             820 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA polymerase II subunit A C-terminal domain phosphatase isoform
            X7 [Homo sapiens].
ACCESSION   XP_047293883
VERSION     XP_047293883.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437927.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..820
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..820
                     /product="RNA polymerase II subunit A C-terminal domain
                     phosphatase isoform X7"
                     /calculated_mol_wt=88863
     Region          130..276
                     /region_name="FCP1_euk"
                     /note="FCP1-like phosphatase, phosphatase domain;
                     TIGR02250"
                     /db_xref="CDD:131304"
     Site            order(141..145,149..150,198..201,205,238,255..256,
                     257..259)
                     /site_type="active"
                     /db_xref="CDD:319823"
     Region          <284..492
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     Region          574..676
                     /region_name="BRCT_CTDP1"
                     /note="BRCT domain of RNA polymerase II subunit A
                     C-terminal domain phosphatase (CTDP1) and similar
                     proteins; cd17729"
                     /db_xref="CDD:349361"
     Region          669..>759
                     /region_name="FCP1_C"
                     /note="FCP1, C-terminal; pfam09309"
                     /db_xref="CDD:430515"
     CDS             1..820
                     /gene="CTDP1"
                     /gene_synonym="CCFDN; FCP1"
                     /coded_by="XM_047437927.1:20..2482"
                     /db_xref="GeneID:9150"
                     /db_xref="HGNC:HGNC:2498"
                     /db_xref="MIM:604927"
ORIGIN      
        1 mcpgssgrlf girflprsci sqlnsggafa agvhaadgrl rvvqmtlpwl wgaavgsrav
       61 lvrlegcshp vvmkglcaec gqdltqlqsk ngkqqvplst atvsmvhsvp elmvsseqae
      121 qlgredqqrl hrnrklvlmv dldqtlihtt eqhcqqmsnk gifhfqlgrg epmlhtrlrp
      181 hckdflekia klyelhvftf gsrlyahtia gfldpekklf shrilsrdec idpfsktgnl
      241 rnlfpcgdsm vciiddredv wkfapnlitv kkyvyfqgtg dmnappgsre sqtrkkvnhs
      301 rgtevsepsp pvrdpegvtq apgvepsngl ekparelngs eaatprdspr pgkpderdiw
      361 ppaqaptssq elagapepqg scaqggrvap gqrpaqgatg tdldfdlssd sesssesegt
      421 kssssasdge segkrgrqkp kaapegagal aqgsslepgr paapslpgea epgahapdke
      481 pelggqeege rdglcglgng cadrkeaete sqnselsgvt agesldqsme eeeeedtded
      541 dhliyleeil vrvhtdyyak ydrylnkeie eapdirkivp elkskvladv aiifsglhpt
      601 nfpiektreh yhatalgaki ltrlvlspda pdrathliaa ragtekvlqa qecghlhvvn
      661 pdwlwscler wdkveeqlfp lrddhtkaqr enspaafpdr egvpptalfh pmpvlpkaqp
      721 gpevriydsn tgklirtgar gppapssslp irqepssfrw ttslekaatt atarrgglrs
      781 rrrspspgsq gpagsgrsgh lrpargarqg aggpeatrgs
//
LOCUS       XP_011524576            1163 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 516 isoform X1 [Homo sapiens].
ACCESSION   XP_011524576
VERSION     XP_011524576.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011526274.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1163
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..1163
                     /product="zinc finger protein 516 isoform X1"
                     /calculated_mol_wt=124159
     Region          34..56
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          36..56
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          48..73
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          64..84
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          176..194
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          202..223
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(207,209,211,213..214,217..218,222,255,257,261..262,
                     265..266,269,283,285,287,289..290,293..294,297)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          248..270
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          250..270
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          278..298
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <915..>1037
                     /region_name="PRK14951"
                     /note="DNA polymerase III subunits gamma and tau;
                     Provisional"
                     /db_xref="CDD:237865"
     Region          1098..1120
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          1100..1120
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..1163
                     /gene="ZNF516"
                     /gene_synonym="HsT287"
                     /coded_by="XM_011526274.4:272..3763"
                     /db_xref="GeneID:9658"
                     /db_xref="HGNC:HGNC:28990"
                     /db_xref="MIM:615114"
ORIGIN      
        1 mdrnreaeme lrrgpsptra grghevdgdk atchtccicg ksfpfqssls qhmrkhtgek
       61 pykcpycdhr asqkgnlkih irshrtgtli qghepeagea plgemraseg ldacasptks
      121 asacnrllng asqadgarvl ngasqadsgr vllrsskkga egsacapgea kaavqcsfck
      181 sqferkkdle lhvhqahkpf kcrlcsyatl reesllshie rdhitaqgpg sgeacvengk
      241 pelspgefpc evcgqafsqt wflkahmkkh rgsfdhgchi cgrrfkepwf lknhmkahgp
      301 ktgsknrpks eldpiatinn vvqeevivag lslyevcakc gnlftnldsl nahnaihrrv
      361 easrtrapae egaegpsdtk qfflqclnlr psaagdscpg tqagrrvael dpvnsyqawq
      421 latrgkvaep aeylkygawd ealagdvafd kdrreyvlvs qekrkreqda paaqgpprkr
      481 asgpgdpapa ghldprsaar pnrraaattg qgkssecfec gkifrtyhqm vlhsrvhrra
      541 rrerdsdgdr aararcgsls egdsasqpss pgsacaaads pgsgladeaa edsgeegape
      601 papggqprrc cfseevtste lssgdqshkm gdnaserdtg eskagiaasv silenssret
      661 srrqeqhrfs mdlkmpafhp kqevpvpgdg vefpsstgae gqtghpaekl sdlhnkehsg
      721 ggkralapdl mpldlsarst rddpsnketa sslqaalvvh pcpycshkty ypevlwmhkr
      781 iwhrvscnsv appwiqpngy ksirsnlvfl srsgrtgppp alggkecqpl llarftrtqv
      841 pggmpgsksg ssplgvvtka asmpknkesh sggpcalwap gpdgyrqtkp chgqephgaa
      901 tqgplakprq easskpvpap ggggfsrsat ptptviarag aqpsanskpv ekfgvppaga
      961 gfaptnkhsa pdslkakfsa qpqgpppakg eggapplppr eppskaaqel rtlatcaags
     1021 rgdaalqaqp gvagappvlh sikqepvaeg hekrldilni fktyipkdfa tlyqgwgvsg
     1081 pglehrgtlr tqarpgefvc iecgksfhqp ghlrahmrah svvfesdgpr gsevhttsad
     1141 apkqgrdhsn tgtvqtvplr kgt
//
LOCUS       XP_047295578             818 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 160 isoform X1 [Homo sapiens].
ACCESSION   XP_047295578
VERSION     XP_047295578.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439622.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..818
                     /product="zinc finger protein 160 isoform X1"
                     /calculated_mol_wt=93981
     Region          8..68
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          <216..332
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          259..279
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          287..307
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          315..335
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(320,322,324,326..327,330..331,334,348,350,354..355,
                     358..359,362,376,378,380,382..383,386..387,390)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          327..351
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          343..363
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          367..810
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          371..391
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          399..419
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          427..447
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          455..475
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          483..503
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(488,490,492,494..495,498..499,502,516,518,522..523,
                     526..527,530,544,546,548,550..551,554..555,558)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          511..531
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          539..559
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          567..587
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          595..615
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          623..643
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(628,630,632,634..635,638..639,642,656,658,662..663,
                     666..667,670,684,686,688,690..691,694..695,698)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          651..671
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          679..699
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          707..727
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          735..755
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          763..783
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          791..811
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..818
                     /gene="ZNF160"
                     /gene_synonym="F11; HKr18; HZF5; KR18"
                     /coded_by="XM_047439622.1:732..3188"
                     /db_xref="GeneID:90338"
                     /db_xref="HGNC:HGNC:12948"
                     /db_xref="MIM:600398"
ORIGIN      
        1 maltqvrltf rdvaiefsqe ewkcldpaqr ilyrdvmlen ywnlvslglc hfdmniisml
       61 eegkepwtvk scvkiarkpr tpecvkgvvt dippkctikd llpkeksste avfhtvvler
      121 hespdiedfs fkepqknvhd fecqwrddtg nykgvlmaqk egkrdqrdrr dienklmnnq
      181 lgvsfhshlp elqlfqgegk myecnqveks tnngssvspl qqipssvqth rskkyhelnh
      241 fslltqrrka nscgkpykcn ecgkaftqns nltshrrihs gekpykcsec gktftvrsnl
      301 tihqvihtge kpykchecgk vfrhnsylat hrrihtgekp ykcnecgkaf rghsnltthq
      361 lihtgekpfk cnecgklftq nshlishwri htgekpykcn ecgkafsvrs slaihqtiht
      421 gekpykcnec gkvfrynsyl grhrrvhtge kpykcnecgk afsmhsnlat hqvihtgtkp
      481 fkcnecskvf tqnsqlanhr rihtgekpyk cnecgkafsv rssltthqai hsgekpykci
      541 ecgksftqks hlrshrgihs gekpykcnec gkvfaqtsql arhwrvhtge kpykcndcgr
      601 afsdrssltf hqaihtgekp ykchecgkvf rhnsylathr rihtgekpyk cnecgkafsm
      661 hsnltthkvi htgekpykcn qcgkvftqns hlanhqrtht gekpyrcnec gkafsvrssl
      721 tthqaihtgk kpykcnecgk vftqnahlan hrrihtgekp yrctecgkaf rvrssltthm
      781 aihtgekryk cnecgkvfrq ssnlashhrm htgekpyk
//
LOCUS       XP_047295628            1280 aa            linear   PRI 20-MAR-2023
DEFINITION  putative ATP-dependent RNA helicase TDRD12 isoform X6 [Homo
            sapiens].
ACCESSION   XP_047295628
VERSION     XP_047295628.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439672.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1280
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..1280
                     /product="putative ATP-dependent RNA helicase TDRD12
                     isoform X6"
                     /calculated_mol_wt=144529
     Region          4..125
                     /region_name="Tudor_SF"
                     /note="Tudor domain superfamily; cl02573"
                     /db_xref="CDD:445840"
     Site            order(67,72,74,94,97,99)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410449"
     Region          382..>722
                     /region_name="SrmB"
                     /note="Superfamily II DNA and RNA helicase [Replication,
                     recombination and repair]; COG0513"
                     /db_xref="CDD:223587"
     Region          852..973
                     /region_name="Tudor_TDRD12_rpt2"
                     /note="second Tudor domain found in Tudor
                     domain-containing protein 12 (TDRD12) and similar
                     proteins; cd20435"
                     /db_xref="CDD:410506"
     Site            order(901,905,928,931,933)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410506"
     Region          1148..1252
                     /region_name="alpha-crystallin-Hsps_p23-like"
                     /note="alpha-crystallin domain (ACD) found in
                     alpha-crystallin-type small heat shock proteins, and a
                     similar domain found in p23 (a cochaperone for Hsp90) and
                     in other p23-like proteins; cl00175"
                     /db_xref="CDD:444727"
     CDS             1..1280
                     /gene="TDRD12"
                     /gene_synonym="ECAT8"
                     /coded_by="XM_047439672.1:307..4149"
                     /db_xref="GeneID:91646"
                     /db_xref="HGNC:HGNC:25044"
ORIGIN      
        1 mlqllvlkie dpgcfwviik gcspfldhdv dyqklnsamn dfynstcqdi eikpltleeg
       61 qvcvvyceel kcwcraivks itssadqyla ecflvdfakn ipvkskkpak kwdnaaiqyf
      121 qnllkattqv earlcaveed tfevylyvti kdekvcvndd lvaknyacym sptknknldy
      181 lekprlniks apsfnklnpa ltlwpmflqg kdvqgmedsh gvnfpaqslq htwckgivgd
      241 lrptataqdk avkcnmdslr dspkdksekk hhcislkdtn krvessvywp akrgitiyad
      301 pdvpeasals qksnekplrl tekkeydekn scvkllqfln pdplradgis dlqqlqklkg
      361 lqppvvvlrn kikpcltids splsadlkka lqrnkfpgps htesyswppi argcdvvvis
      421 hcesnpllyl lpvltvlqtg acykslpsrn gplavivcpg wkkaqfifel lgeysmssrp
      481 lhpvlltigl hkeeakntkl prgcdvivtt pysllrllac qsllflrlch lildevevlf
      541 leaneqmfai ldnfkkniev eeresaphqi vavgvhwnkh iehlikefmn dpyivitame
      601 eaalygnvqq vvhlclecek tssllqaldf ipsqaqktli ftcsvaetei vckvvesssi
      661 fclkmhkemi fnlqnvleqw kkklssgsqi ilaltddcvp llaitdatcv ihfsfpaspk
      721 vfggrlycms dhfhaeqgsp aeqgdkkaks vllltekdas havgvlryle radakvpael
      781 yeftagvlea kedkkagrpl cpylkafgfc kdkricpdrh rinpetdlpr klssqalpsf
      841 gyikiipfyi lnatnyfgri vdkhmdlyat lnaemneyfk dsnkttvekv ekfglyglae
      901 ktlfhrvqvl evnqkedawa lddilvefid egrtglvtrd qllhlpehfh tlppqavefi
      961 vcrvkpadne iewnpkvtry ihhkivgklh dakvilalgn tvwidpmvhi tnlsslktsv
     1021 idynvraeil smgmgidnpe hieqlkklre dakipacees lsqtpprvtg tspaqdqdhp
     1081 seeqggqgtp paedaaclqs pqpedtgaeg gaesktssen qkpetlsgnt egafisrtaq
     1141 pplksfhpqi kwfqkedvvi lkirirnvkd ykcqylrdrv vfsawvgdkf yladlelrgn
     1201 irkddcqcvi rndepvitla kerreawchl lrqrnpnvaf dfdhwedcee dshfpkvtev
     1261 vedssstsed ddseserege
//
LOCUS       XP_047299293             195 aa            linear   PRI 20-MAR-2023
DEFINITION  myelin-associated neurite-outgrowth inhibitor isoform X1 [Homo
            sapiens].
ACCESSION   XP_047299293
VERSION     XP_047299293.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443337.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..195
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..195
                     /product="myelin-associated neurite-outgrowth inhibitor
                     isoform X1"
                     /calculated_mol_wt=20193
     Region          1..195
                     /region_name="TCRP1"
                     /note="Tongue Cancer Chemotherapy Resistant Protein 1;
                     pfam14944"
                     /db_xref="CDD:434335"
     CDS             1..195
                     /gene="FAM168B"
                     /gene_synonym="MANI"
                     /coded_by="XM_047443337.1:553..1140"
                     /db_xref="GeneID:130074"
                     /db_xref="HGNC:HGNC:27016"
                     /db_xref="MIM:620078"
ORIGIN      
        1 mnpvyspgss gvpyanakgi gypagfpmgy aaaapayspn mypganptfq tgytpgtpyk
       61 vscsptsgav ppyssspnpy qtavypvrsa ypqqspyaqq gtyytqplya apphvihhtt
      121 vvqpngmpat vypapipppr gngvtmgmva gttmamsagt lltahsptpv aphpvtvpty
      181 rapgtptysy vppqw
//
LOCUS       XP_047299716             948 aa            linear   PRI 20-MAR-2023
DEFINITION  EH domain-binding protein 1 isoform X9 [Homo sapiens].
ACCESSION   XP_047299716
VERSION     XP_047299716.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443760.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..948
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..948
                     /product="EH domain-binding protein 1 isoform X9"
                     /calculated_mol_wt=108386
     Region          12..165
                     /region_name="NT-C2"
                     /note="N-terminal C2 in EEIG1 and EHBP1 proteins;
                     pfam10358"
                     /db_xref="CDD:431230"
     Region          444..>525
                     /region_name="CH_SF"
                     /note="calponin homology (CH) domain superfamily; cl00030"
                     /db_xref="CDD:444660"
     Region          791..927
                     /region_name="DUF3585"
                     /note="Protein of unknown function (DUF3585); pfam12130"
                     /db_xref="CDD:432351"
     CDS             1..948
                     /gene="EHBP1"
                     /gene_synonym="HPC12; NACSIN"
                     /coded_by="XM_047443760.1:636..3482"
                     /db_xref="GeneID:23301"
                     /db_xref="HGNC:HGNC:29144"
                     /db_xref="MIM:609922"
ORIGIN      
        1 masvwkrlqr vgkhaskfqf vasyqelmve ctkkwqpdkl vvvwtrrsrr ksskahswqp
       61 giknpyrgvv vwpvpeniei tvtlfkdpha eefedkewtf vienespsgr rkalatssin
      121 mkqyaspmpt qtdvklkfkp lskkvvsaal qfslsciflr egkatdedmq slaslmsmkq
      181 adignlddfe ednedddenr vnqeekaaki teivnqlnal ssldedqddc ikqanmrsak
      241 sassseelin klnfldeaek dlatvnsnpf ddpdaaelnp fgdpdseepi tetasprkte
      301 dsfynnsynp fkevqtpqyl npfdepeafv tikdsppqst krknirpvdm skylyadssk
      361 teeeeldesn pfyepkstpp pnnlvnpvqe leterrvkrk apappvlspk tgvlnentvs
      421 agkdlstspk pspipspvlg rkpnasqsll vwckevtkny rgvkitnftt swrnglsfca
      481 ilhhfrpdli dykslnpqdi kennkkaydg fasigisrll epsdmhrlls rqeelkerar
      541 vlleqarrda alkagnkhnt ntatpfcnrq lsdqdeerrr qlrerarqli aearsgvkms
      601 elpsygemaa eklkerskas gdendnieid tneeipegfv vgggdeltnl endldtpeqn
      661 sklvdlklkk llevqpqvan spssaaqkav tesseqdmks gtedlrterl qktterfrnp
      721 vvfskdstvr ktqlqsfsqy ienrpemkrq rsiqedtkkg neekaaitet qrkpsedevl
      781 nkgfkdtsqy vvgelaalen eqkqidtraa lvekrlrylm dtgrnteeee ammqewfmlv
      841 nkknalirrm nqlsllekeh dlerryelln relramlaie dwqkteaqkr reqllldelv
      901 alvnkrdalv rdldaqekqa eeedehlert leqnkgkmak keekcvlq
//
LOCUS       XP_011509228             214 aa            linear   PRI 20-MAR-2023
DEFINITION  grancalcin isoform X4 [Homo sapiens].
ACCESSION   XP_011509228
VERSION     XP_011509228.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011510926.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..214
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..214
                     /product="grancalcin isoform X4"
                     /calculated_mol_wt=23779
     Region          34..190
                     /region_name="EFh_PEF"
                     /note="The penta-EF hand (PEF) family; cl25352"
                     /db_xref="CDD:355382"
     Region          34..62
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320054"
     Site            order(46,53,83,85,87,94,113,115,117,124)
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:320054"
     Region          74..103
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320054"
     Region          104..133
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320054"
     Region          140..167
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320054"
     CDS             1..214
                     /gene="GCA"
                     /gene_synonym="GCL"
                     /coded_by="XM_011510926.3:189..833"
                     /db_xref="GeneID:25801"
                     /db_xref="HGNC:HGNC:15990"
                     /db_xref="MIM:607030"
ORIGIN      
        1 mqmgqpvpet gpailldgys gpaysdtyss agdsvytyfs avagqdgevd aeelqrcltq
       61 sgingtyspf sletcrimia mldrdhtgkm gfnafkelwa alnawkenfm tvdqdgsgtv
      121 ehhelrqaig lmgyrlspqt lttivkrysk ngriffddyv accvklralt dffrkrdhlq
      181 qgsanfiydd cggmnvinfe hldterpesv cksd
//
LOCUS       XP_024308611            1686 aa            linear   PRI 20-MAR-2023
DEFINITION  maestro heat-like repeat-containing protein family member 2A
            isoform X6 [Homo sapiens].
ACCESSION   XP_024308611
VERSION     XP_024308611.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024452843.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1686
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1686
                     /product="maestro heat-like repeat-containing protein
                     family member 2A isoform X6"
                     /calculated_mol_wt=190529
     CDS             1..1686
                     /gene="MROH2A"
                     /gene_synonym="HEATR7B1"
                     /coded_by="XM_024452843.2:190..5250"
                     /db_xref="GeneID:339766"
                     /db_xref="HGNC:HGNC:27936"
ORIGIN      
        1 mcigpraelf lvvnicliqk ktlrkeleee mteaiteaav asseevseer ddlgplelhd
       61 sgtfqqvvnl ldiidsesak tdttgagldm rktlasviim ekattepsvv intlirclqv
      121 peistqrkvn iynilqdiiq qegeleeqcv qrlvaiaske mreipemegy mkaevasdtl
      181 valsrnhfsl vmyelqhhlk plnltdefvi itlaklangn vfefmpymgi tlatiftmlr
      241 laneakirqa icsametfce tvqfylkhle esvypvmtee efalkvfpmy ryfvtvwlrh
      301 ynpevklgvi kslkpmlgll lpnddlreqv ydyiplllae yqgslevlfv tqvlrqilel
      361 svttntpvpq mqlhtiftel hvqvcnkapa qhqyssqnlm emvhcfvala rsypkelmkf
      421 ffsqmetnke avrvgtlnli raivsadepr msiraiylai rvvkntisdt rskvrmailh
      481 iigqlalcgy qerikgwglk ylsvqltlst ykltnrrekf yqrdleermv hkvtmdtvki
      541 itssvsgmtt efwvrllcyi metdyvealt picisltnla ehqlhgqdvd vsvagksrqv
      601 dlpapqklla rllvlmsspy kgegrgiaml nllrtlsqsi apsmadmwel eiallvryle
      661 ehteftwdqk awedkliqfl rnslkktrgs swslrlskel nnqiasfdsp slekgflyra
      721 lgftlatgle askvevllle llyktdysnd fdsegvimcf glcargqvkt vlnvlhdfee
      781 riqeseqswq isawrkdhpw rretvksalm vmyscvasyc hpqlllnlvd spitakiihh
      841 yvsscqvaps aawgdvfwtr ldiclkmafm ksvvqvtkai nnikdledfh faqkttltsi
      901 ivavikaept dnlvspvral amealshlsk lkpfysteen selmdisihs vislqlpged
      961 nesiktlyan alssleqlme sllqrqldpk glqemvqihl klgqfgtmvg liapctcdah
     1021 qrtrmasmnv lsslldlhas qtcslwgpsk qkelekckgd lqstdvekif cassriakvv
     1081 cmefscdevv sliqklcent gamnlqhdka svtwiafflq mrakeledkv aeilsailvh
     1141 lpvvdhpevr rllidgilll ahhhqetilt sllrqplpme shlaevwlav senvpfartm
     1201 lhslmgrlqs rlsprisats kadiwrlaav dplmtlctih lliqkldend klpdflpdli
     1261 ytlllqlgss hrpeaappvl kmwklvhttp lpeemnlqrv tiksmqllfk rvksqhlaht
     1321 ldeqavwdll qdggtflegv sllarlcmqh veghrqrlae lvlrgmdsev lscrisstav
     1381 cvefmsgpvl yqekllkpaa lllekgadqe edealrvlsl ralgnmalga pkkvkqyrkv
     1441 llekclgplr epvsnsvtae gmealtkila elregdvgss fdamseqcri ffdnesellr
     1501 lkafilfgkl arvvgmskkh ffkgevkkaw iplmlhsqdp csnaaqacma tmfqcvhfwg
     1561 wkslehpsgp sdtatddkmt vfqttmcsil trkkpavlyr flletmayvk nnlsririaa
     1621 cnlagiimkq msthylkkld fpalrnslqe lqldpdpgvr raaletltvl dscsqhgfla
     1681 spqgms
//
LOCUS       XP_047300216             677 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C2orf78 isoform X1 [Homo sapiens].
ACCESSION   XP_047300216
VERSION     XP_047300216.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444260.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 5% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..677
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..677
                     /product="uncharacterized protein C2orf78 isoform X1"
                     /calculated_mol_wt=74089
     Region          250..398
                     /region_name="DUF4629"
                     /note="Domain of unknown function (DUF4629); pfam15442"
                     /db_xref="CDD:434721"
     Region          <466..636
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..677
                     /gene="C2orf78"
                     /gene_synonym="COG5373; hCG1989538"
                     /coded_by="XM_047444260.1:221..2254"
                     /db_xref="GeneID:388960"
                     /db_xref="HGNC:HGNC:34349"
ORIGIN      
        1 mvmvlkevqp tnvlppvsts gmyysvssqp itetsvqvme tslgmdtslg lqspsqtfcl
       61 pqtpefsksf ssrntqtles npspelgdis itpvqsptnl ltlspapsqe knenenldei
      121 ktnlskpldv hqilignqdp pllpveipdi hpllacidpl gqeeqpgsen anlrnkslsl
      181 edqgifengi esssdladit twvedtylpp ifsslqdldq pespsakkak dtsaikvnqv
      241 qekscvikgh sdqvrknkhk asepiqgapk akiqpknpec llerevvvgs atvsnsasvn
      301 kakhssnkph kaassriskt kshgqektkg nrknsskkse eskqsgkkvk veekqtipnm
      361 krkknqpels qktlkkprss lgmhmlesvq vfhalgkkid mktgfsssrt lgsssntqnr
      421 qpfpalkpwl diqhegkgpe kiqvkaqkld gsaekectsp shselpppgk vkliplpflt
      481 ldqpqarhvs rrpnplasrr pavayparpd stnsaqsnav npsrpaptnt sltgpatpaq
      541 pisakatqps sanptqptvp qsaasrpsay ktsscsslqr epvstavtsl rslpkpqnqf
      601 liqdfslqpr pwrkptvpep vmstpiteeq rpereamkrk aqqerenaak ytslgkvqff
      661 iererdmeia eyygyti
//
LOCUS       XP_047300898             976 aa            linear   PRI 20-MAR-2023
DEFINITION  pre-mRNA-processing factor 40 homolog A isoform X3 [Homo sapiens].
ACCESSION   XP_047300898
VERSION     XP_047300898.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444942.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..976
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..976
                     /product="pre-mRNA-processing factor 40 homolog A isoform
                     X3"
                     /calculated_mol_wt=110376
     Region          174..815
                     /region_name="PRP40"
                     /note="Splicing factor [RNA processing and modification];
                     COG5104"
                     /db_xref="CDD:227435"
     CDS             1..976
                     /gene="PRPF40A"
                     /gene_synonym="FBP-11; FBP11; FLAF1; FNBP3; HIP-10; HIP10;
                     HYPA; NY-REN-6; Prp40"
                     /coded_by="XM_047444942.1:389..3319"
                     /db_xref="GeneID:55660"
                     /db_xref="HGNC:HGNC:16463"
                     /db_xref="MIM:612941"
ORIGIN      
        1 mqatpseaea ggespqscvs aahsdwtagk pvsllaplip prsagqpltf spsgrqplrs
       61 llvgmcsgsg rrrsslsptm rpgtgaergg lmmghpgmhy apmgmhpmgq ranmppvphg
      121 mmpqmmppmg gppmgqmpgm mssvmpgmmm shmsqasmqp alppgvnsmd vaagtasgak
      181 smwtehkspd grtyyyntet kqstwekpdd lktpaeqlls kcpwkeyksd sgkpyyynsq
      241 tkesrwakpk eledleamik aeesskqeec tttstapvpt teipttmstm aaaeaaaavv
      301 aaaaaaaaaa aaananasts asntvsgtvp vvpepevtsi vatvvdnent vtisteeqaq
      361 ltstpaiqdq svevssntge etskqetvad ftpkkeeees qpakktytwn tkeeakqafk
      421 ellkekrvps nasweqamkm iindprysal aklsekkqaf naykvqteke ekeearskyk
      481 eakesfqrfl enhekmtstt rykkaeqmfg emevwnaise rdrleiyedv lfflskkeke
      541 qakqlrkrnw ealknildnm anvtysttws eaqqylmdnp tfaedeelqn mdkedalicf
      601 eehiraleke eeeekqksll rerrrqrknr esfqifldel hehgqlhsms swmelyptis
      661 sdirftnmlg qpgstaldlf kfyvedlkar yhdekkiikd ilkdkgfvve vnttfedfva
      721 iisstkrstt ldagniklaf nsllekaear ererekeear kmkrkesafk smlkqaappi
      781 eldavwedir erfvkepafe ditleserkr ifkdfmhvle hecqhhhskn kkhskkskkh
      841 hrkrsrsrsg sdsddddshs kkkrqrsesr sasehsssae sersykkskk hkkkskkrrh
      901 ksdspesdae rekdkkekdr esekdrtrqr seskhkspkk ktgkdsgnwd tsgselsege
      961 lekrrrtlle qldddq
//
LOCUS       XP_024308974             577 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-dependent multivitamin transporter isoform X2 [Homo
            sapiens].
ACCESSION   XP_024308974
VERSION     XP_024308974.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453206.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..577
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..577
                     /product="sodium-dependent multivitamin transporter
                     isoform X2"
                     /calculated_mol_wt=62118
     Region          24..517
                     /region_name="SLC5-6-like_sbd"
                     /note="Solute carrier families 5 and 6-like; solute
                     binding domain; cl00456"
                     /db_xref="CDD:444915"
     Site            order(77,80,362,365..366)
                     /site_type="other"
                     /note="Na binding site [ion binding]"
                     /db_xref="CDD:271356"
     CDS             1..577
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; NERIB; SMVT; SMVTD"
                     /coded_by="XM_024453206.2:457..2190"
                     /db_xref="GeneID:8884"
                     /db_xref="HGNC:HGNC:11041"
                     /db_xref="MIM:604024"
ORIGIN      
        1 msvgvstsap lsptsgtsvg mstfsimdyv vfvlllvlsl aiglyhacrg wgrhtvgell
       61 madrkmgclp valsllatfq savailgvps eiyrfgtqyw flgccyflgl lipahifipv
      121 fyrlhltsay eylelrfnkt vrvcgtvtfi fqmviymgvv lyapslalna vtgfdlwlsv
      181 lalgivctvy talgglkavi wtdvfqtlvm flgqlaviiv gsakvgglgr vwavasqhgr
      241 isgfeldpdp fvrhtfwtla fggvfmmlsl ygvnqaqvqr ylssrtekaa vlscyavfpf
      301 qqvslcvgcl iglvmfayyq eypmsiqqaq aapdqfvlyf vmdllkglpg lpglfiaclf
      361 sgslstissa fnslatvtme dlirpwfpef searaimlsr glafgygllc lgmayissqm
      421 gpvlqaaisi fgmvggpllg lfclgmffpc anppgavvgl laglvmafwi gigsivtsmg
      481 ssmppspsng ssfslptnlt vatvttlmpl ttfskttstl acflrsrgmv cwgtaetrrp
      541 wpwmaqpirg aappassrrp pcdvdsgprl cphcarp
//
LOCUS       XP_047295845             271 aa            linear   PRI 20-MAR-2023
DEFINITION  cystatin-like 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047295845
VERSION     XP_047295845.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439889.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 14% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..271
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..271
                     /product="cystatin-like 1 isoform X1"
                     /calculated_mol_wt=30397
     Region          40..107
                     /region_name="CY"
                     /note="Cystatin-like domain; Cystatins are a family of
                     cysteine protease inhibitors that occur mainly as single
                     domain proteins. However some extracellular proteins such
                     as kininogen, His-rich glycoprotein and fetuin also
                     contain these domains; cl09238"
                     /db_xref="CDD:447698"
     Site            order(73..75,77)
                     /site_type="active"
                     /note="putative proteinase inhibition site [active]"
                     /db_xref="CDD:238002"
     CDS             1..271
                     /gene="CSTL1"
                     /gene_synonym="CTES1; dJ322G13.4; RCET11"
                     /coded_by="XM_047439889.1:262..1077"
                     /db_xref="GeneID:128817"
                     /db_xref="HGNC:HGNC:15958"
ORIGIN      
        1 mgigcwrnpl lllialvlsa klghfqrweg fqqklmskkn mnstlnffiq synnasndty
       61 lyrvqrlirs qmqlttgvey ivtvkigwtk ckrndtsnss cplqskklrk lsclmktvll
      121 aklnecssld seriewainq egaslpgepa nitelrcsys wtllknnllq eapsdclahl
      181 lprltrmpll sghtsiktck lfsfhcssal plephfeslg ttksdwldsh lappltswva
      241 vgklltfnvp qsshlqngnc hsqpnlqqpp v
//
LOCUS       XP_047303389             188 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM3D isoform X5 [Homo sapiens].
ACCESSION   XP_047303389
VERSION     XP_047303389.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447433.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..188
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..188
                     /product="protein FAM3D isoform X5"
                     /calculated_mol_wt=20518
     Region          14..184
                     /region_name="ILEI_FAM3C"
                     /note="Interleukin-like EMT inducer; cd13940"
                     /db_xref="CDD:260114"
     CDS             1..188
                     /gene="FAM3D"
                     /gene_synonym="EF7; OIT1"
                     /coded_by="XM_047447433.1:276..842"
                     /db_xref="GeneID:131177"
                     /db_xref="HGNC:HGNC:18665"
                     /db_xref="MIM:608619"
ORIGIN      
        1 mrvsaasptk eiqvkkykcg likpcpanyf afkicsgaan vvgptmcfed rmimspvknn
       61 vgrglnialv ngttgavlgq kafdmysgdv mhlvkflkei pggalvlvas yddpgtkmnd
      121 esrklfsdlg ssyakqlgfr dswvfigakd lrgkspfeqf lknspdtnky egwpelleme
      181 gcmppkpf
//
LOCUS       XP_047303548             770 aa            linear   PRI 20-MAR-2023
DEFINITION  disks large homolog 1 isoform X6 [Homo sapiens].
ACCESSION   XP_047303548
VERSION     XP_047303548.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447592.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 16% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..770
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..770
                     /product="disks large homolog 1 isoform X6"
                     /calculated_mol_wt=84882
     Region          6..64
                     /region_name="L27_1"
                     /note="pfam09058"
                     /db_xref="CDD:430389"
     Region          107..223
                     /region_name="MAGUK_N_PEST"
                     /note="Polyubiquitination (PEST) N-terminal domain of
                     MAGUK; pfam10608"
                     /db_xref="CDD:431391"
     Region          224..308
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(233..236,238,292..293,296..297)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          317..403
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(328..331,333,387..388,391..392)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          404..465
                     /region_name="PDZ_assoc"
                     /note="PDZ-associated domain of NMDA receptors; pfam10600"
                     /db_xref="CDD:431385"
     Region          463..547
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(475..478,480,528..529,532..533)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          582..648
                     /region_name="SH3_DLG1"
                     /note="Src Homology 3 domain of Disks Large homolog 1;
                     cd12031"
                     /db_xref="CDD:212964"
     Site            order(587,609..610,631)
                     /site_type="other"
                     /note="GuK domain interface [polypeptide binding]"
                     /db_xref="CDD:212964"
     Site            order(590,592,595,604,622..623,642,644..645)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212964"
     Region          735..>766
                     /region_name="Guanylate_kin"
                     /note="Guanylate kinase; pfam00625"
                     /db_xref="CDD:395500"
     CDS             1..770
                     /gene="DLG1"
                     /gene_synonym="DLGH1; hdlg; SAP-97; SAP97"
                     /coded_by="XM_047447592.1:495..2807"
                     /db_xref="GeneID:1739"
                     /db_xref="HGNC:HGNC:2900"
                     /db_xref="MIM:601014"
ORIGIN      
        1 mpvrkqdtqr alhlleeyrs klsqtedrql rssiervini fqsnlfqali diqefyevtl
       61 ldnpkcidrs kpsepiqpvn tweisslpss tvtsetlpss lspsvekyry qdedtppqeh
      121 ispqitnevi gpelvhvsek nlseienvhg fvshshispi kpteavlpsp ptvpvipvlp
      181 vpaentvilp tipqanpppv lvntdsletp tyvngtdady eyeeitlerg nsglgfsiag
      241 gtdnphigdd ssifitkiit ggaaaqdgrl rvndcilrvn evdvrdvths kavealkeag
      301 sivrlyvkrr kpvsekimei klikgpkglg fsiaggvgnq hipgdnsiyv tkiieggaah
      361 kdgklqigdk llavnnvcle evtheeavta lkntsdfvyl kvakptsmym ndgyappdit
      421 nsssqpvdnh vspssflgqt pasparyspv skavlgddei treprkvvlh rgstglgfni
      481 vggedgegif isfilaggpa dlsgelrkgd riisvnsvdl raasheqaaa alknagqavt
      541 ivaqyrpeey srfeakihdl reqmmnssis sgsgslrtsq krslyvralf dydktkdsgl
      601 psqglnfkfg dilhvinasd dewwqarqvt pdgesdevgv ipskrrvekk erarlktvkf
      661 nsktrdkgqs fndkrkknlf srkfpfyknk dqseqetsda dqhvtsnasd sessyrgqee
      721 yvlsyepvnq qevnytrpvi ilgpmkdrin ddlisefpdk fgscvplffc
//
LOCUS       XP_016863042             817 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 5 isoform X1 [Homo sapiens].
ACCESSION   XP_016863042
VERSION     XP_016863042.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017007553.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..817
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..817
                     /product="TBC1 domain family member 5 isoform X1"
                     /calculated_mol_wt=91085
     Region          79..381
                     /region_name="TBC"
                     /note="Domain in Tre-2, BUB2p, and Cdc16p. Probable
                     Rab-GAPs; smart00164"
                     /db_xref="CDD:214540"
     CDS             1..817
                     /gene="TBC1D5"
                     /coded_by="XM_017007553.3:699..3152"
                     /db_xref="GeneID:9779"
                     /db_xref="HGNC:HGNC:19166"
                     /db_xref="MIM:615740"
ORIGIN      
        1 myhslsetrh plqpeeqevg idplssysnk sggdsnkngr rtsstldseg tfnsyrkewe
       61 elfvnnnyla tirqkgingq lrssrfrsic wklflcvlpq dksqwisrie elrawysnik
      121 eihitnprkv vgqqdlminn plsqdegslw nkffqdkelr smieqdvkrt fpemqffqqe
      181 nvrkiltdvl fcyareneql lykqgmhell apivfvlhcd hqaflhases aqpseemktv
      241 lnpeylehda yavfsqlmet aepwfstfeh dgqkgketlm tpipfarpqd lgptiaivtk
      301 vnqiqdhllk khdielymhl nrleiapqiy glrwvrllfg refplqdllv vwdalfadgl
      361 slglvdyifv amllyirdal issnyqtclg llmhypfigd vhslilkalf lrdpkrnprp
      421 vtyqfhpnld yykargadlm nksrtnakga plninkvsns linfgrklis pamapgsagg
      481 pvpggnssss ssvviptrts aeapshhlqq qqqqqrlmks esmpvqlnkg dvvtgsdaqv
      541 svpvqtltdl qglsskniss spsveslpgg reftgsppss atkkdsffsn isrsrshskt
      601 mgrkeseeel eaqisflqgq lndldamcky cakvmdthlv niqdvilqen lekedqilvs
      661 laglkqikdi lkgslrfnqs qleaeeneqi tiadnhycss gqgqgrgqgq svqmsgaikq
      721 assetpgctd rgnsddfili skdddgssar gsfsgqaqpl rtlrstsgks qapvcsplvf
      781 sdplmgpasa sssnpssspd ddsskdsgft ivspldi
//
LOCUS       XP_047271787            1023 aa            linear   PRI 20-MAR-2023
DEFINITION  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047271787
VERSION     XP_047271787.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047415831.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1023
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1023
                     /product="inactive ubiquitin carboxyl-terminal hydrolase
                     53 isoform X2"
                     /calculated_mol_wt=114824
     Region          31..>249
                     /region_name="UCH"
                     /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443"
                     /db_xref="CDD:425685"
     CDS             1..1023
                     /gene="USP53"
                     /gene_synonym="PFIC7"
                     /coded_by="XM_047415831.1:950..4021"
                     /db_xref="GeneID:54532"
                     /db_xref="HGNC:HGNC:29255"
                     /db_xref="MIM:617431"
ORIGIN      
        1 mawvkflrkp ggnlgkvyqp gsmlslaptk gllnepgqns cflnsavqvl wqldifrrsl
       61 rvltghvcqg dacifcalkt ifaqfqhsre kalpsdnirh alaesfkdeq rfqlglmdda
      121 aecfenmler ihfhivpsrd admctsksci thqkfamtly eqcvcrscga ssdplpftef
      181 vryisttalc nevermlerh erfkpemfae llqaanttdd yrkcpsncgq kikirrvlmn
      241 cpeivtiglv wdsehsdlte avvrnlathl ylpgigtrwk dvvskcirch fqplllfyan
      301 pdgtavsted alrqviswsh yksvaenmgc ekpvihksdn lkengfgdqa kqrenqkfpt
      361 dnisssnrsh shtgvgkgpa klshidqrek ikdisrecal kaieqknlls sqrkdlekgq
      421 rkdlgrhrdl vdedlshfqs gsppapngfk qhgnphlyhs qgkgsykhdr vvpqsrasaq
      481 iisssksqil apgekitgkv ksdngtgydt dssqdsrdrg nscdsssksr nrgwkpmret
      541 lnvdsifses ekrqhsprhk pnisnkpkss kdpsfsnwpk enpkqkglmt iyedemkqei
      601 gsrsslesng kgaeknkglv egkvhgdnwq mqrtesgyes sdhisngstn ldspvidgng
      661 tvmdisgvke tvcfsdqitt snlnkergdc tslqsqhhle gfrkelrnle agykshefhp
      721 eshlqiknhl ikrshvhedn gklfpssslq ipkdhnareh ihqsdeqkle kpneckfsew
      781 lniensertg lpfhvdnsas gkrvnsneps slwsshlrtv glkpetapli qqqnimdqcy
      841 fenslsteci irsasrsdgc qmpklfcqnl ppplppkkya itsvpqseks estpdvklte
      901 vfkatshlpk hslstaseps levsthmnde rhketfqvre cfgntpncps ssstndfqan
      961 sgaidafcqp eldsistcpn etvslttyfs vdscmtdtyr lkyhqrpkls fpessgfcnn
     1021 sls
//
LOCUS       XP_047273137             473 aa            linear   PRI 20-MAR-2023
DEFINITION  myocyte-specific enhancer factor 2C isoform X1 [Homo sapiens].
ACCESSION   XP_047273137
VERSION     XP_047273137.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417181.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..473
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..473
                     /product="myocyte-specific enhancer factor 2C isoform X1"
                     /calculated_mol_wt=51090
     Region          2..78
                     /region_name="MADS_MEF2_like"
                     /note="MEF2 (myocyte enhancer factor 2)-like/Type II
                     subfamily of MADS (MCM1, Agamous, Deficiens, and SRF
                     (serum response factor) box family of eukaryotic
                     transcriptional regulators. Binds DNA and exists as hetero
                     and homo-dimers. Differs from SRF-like/Type I...; cd00265"
                     /db_xref="CDD:238165"
     Site            order(2..4,6,8,13,15,19..20,23..24,26..27,30..31,33..34,
                     38)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238165"
     Site            order(21,28..29,32..33,35..36,39,44,46,48,54,56,62,65..66,
                     69,72..73)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238165"
     Site            59
                     /site_type="other"
                     /note="putative phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:238165"
     Region          <107..155
                     /region_name="HJURP_C"
                     /note="Holliday junction regulator protein family
                     C-terminal repeat; pfam12347"
                     /db_xref="CDD:432495"
     CDS             1..473
                     /gene="MEF2C"
                     /gene_synonym="C5DELq14.3; DEL5q14.3; NEDHSIL"
                     /coded_by="XM_047417181.1:1899..3320"
                     /db_xref="GeneID:4208"
                     /db_xref="HGNC:HGNC:6996"
                     /db_xref="MIM:600662"
ORIGIN      
        1 mgrkkiqitr imdernrqvt ftkrkfglmk kayelsvlcd ceialiifns tnklfqyast
       61 dmdkvllkyt eynephesrt nsdivetlrk kglngcdspd pdaddsvghs pesedkyrki
      121 nedidlmisr qrlcavpppn fempvsipvs shnslvysnp vsslgnpnll plahpslqrn
      181 smspgvthrp psagntgglm ggdltsgagt sagngygnpr nspgllvspg nlnknmqaks
      241 pppmnlgmnn rkpdlrvlip pgskntmpsv sedvdlllnq rinnsqsaqs latpvvsvat
      301 ptlpgqgmgg ypsaisttyg teyslssadl sslsgfntas alhlgsvtgw qqqhlhnmpp
      361 salsqlgact sthlsqssnl slpstqslni ksepvspprd rtttpsrypq htrheagrsp
      421 vdslsscsss ydgsdredhr nefhspiglt rpspderesp svkrmrlseg wat
//
LOCUS       XP_005268526             383 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 55 isoform X1 [Homo sapiens].
ACCESSION   XP_005268526
VERSION     XP_005268526.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005268469.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..383
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..383
                     /product="WD repeat-containing protein 55 isoform X1"
                     /calculated_mol_wt=41939
     CDS             1..383
                     /gene="WDR55"
                     /coded_by="XM_005268469.4:10..1161"
                     /db_xref="GeneID:54853"
                     /db_xref="HGNC:HGNC:25971"
ORIGIN      
        1 mdrtceerpa edgsdeedpd smeaptrird tpedivleap asglafhpar dllaagdvdg
       61 dvfvfsyscq egetkelwss ghhlkacrav afsedgqkli tvskdkaihv ldveqgqler
      121 rvskahgapi nslllvdenv latgddtggi clwdqrkegp lmdmrqheey iadmaldpak
      181 kllltasgdg clgifnikrr rfellsepqs gdltsvtlmk wgkkvacgss egtiylfnwn
      241 gfgatsdrfa lraesidcmv pvtesllctg stdgviravn ilpnrvvgsv gqhtgepvee
      301 lalshcgrfl assghdqrlk fwdmaqlrav vvddyrrrkk kggplralss ktwstddffa
      361 glreegedsm aqeekeetgd dsd
//
LOCUS       XP_011532947             563 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 354A isoform X2 [Homo sapiens].
ACCESSION   XP_011532947
VERSION     XP_011532947.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534645.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..563
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..563
                     /product="zinc finger protein 354A isoform X2"
                     /calculated_mol_wt=64202
     Region          <1..31
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          147..166
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          156..558
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          174..194
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          202..222
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(207,209,211,213..214,217..218,221,235,237,241..242,
                     245..246,249,263,265,267,269..270,273..274,277)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          230..250
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          258..278
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          314..334
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(319,321,323,325..326,329..330,333,347,349,353..354,
                     357..358,361,375,377,379,381..382,385..386,389)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          342..362
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          370..390
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          398..418
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          426..446
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          454..474
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(459,461,463,465..466,469..470,473,487,489,493..494,
                     497..498,501,515,517,519,521..522,525..526,529)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          482..502
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          510..530
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          538..558
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..563
                     /gene="ZNF354A"
                     /gene_synonym="EZNF; HEL104; HKL1; KID-1; KID1; TCF17"
                     /coded_by="XM_011534645.3:832..2523"
                     /db_xref="GeneID:6940"
                     /db_xref="HGNC:HGNC:11628"
                     /db_xref="MIM:602444"
ORIGIN      
        1 mlenyrnlvs lglpftkpkv isllqqgedp wevekdgsgv sslgsksshk ttkstqtqds
       61 sfqglilkrs nrnvpwdlkl ekpyiyegrl ekkqdkkgsf qivsathkki ptiershknt
      121 elsqnfspks vlirqqilpr ektppkceiq gnslkqnsql lnqpkitadk rykcslcekt
      181 fintsslrkh eknhsgeklf kckecskafs qssaliqhqi thtgekpyic kecgkaftls
      241 tslykhlrth tveksyrcke cgksfsrrsg lfihqkihae enpckynpgr kasscstsls
      301 gcqrihsrkk sylcnecgnt fksssslryh qrihtgekpf kcsecgrafs qsasliqher
      361 ihtgekpyrc necgkgftsi srlnrhriih tgekfyncne cgkalsshst liiherihtg
      421 ekpckckvcg kafrqssali qhqrmhtger pykcnecgkt frcnsslsnh qrihtgekpy
      481 rceecgisfg qssaliqhrr ihtgekpfkc ntcgktfrqs ssriahqrih tgekpyecnt
      541 cgklfnhrss ltnhykihie edp
//
LOCUS       XP_047274828             600 aa            linear   PRI 20-MAR-2023
DEFINITION  peroxisome biogenesis factor 6 isoform X2 [Homo sapiens].
ACCESSION   XP_047274828
VERSION     XP_047274828.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418872.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 45% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..600
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..600
                     /product="peroxisome biogenesis factor 6 isoform X2"
                     /calculated_mol_wt=63914
     Region          <86..597
                     /region_name="CDC48"
                     /note="AAA family ATPase, CDC48 subfamily; TIGR01243"
                     /db_xref="CDD:273521"
     CDS             1..600
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /coded_by="XM_047418872.1:924..2726"
                     /db_xref="GeneID:5190"
                     /db_xref="HGNC:HGNC:8859"
                     /db_xref="MIM:601498"
ORIGIN      
        1 mffkvkktvg eapdgpasay ladtthtsly mvgstlspvp wlpseestlw sslsppglea
       61 lvselcavlk prlqpggall tgtssvllrg ppgcgkttvv aaacshlglh llkvpcsslc
      121 aessgavetk lqaifsrarr crpavlllta vdllgrdrdg lgedarvmav lrhlllnedp
      181 lnscpplmvv attsraqdlp advqtafphe levpalsegq rlsilralta hlplgqevnl
      241 aqlarrcagf vvgdlyallt hssraactri knsglagglt eedegelcaa gfpllaedfg
      301 qaleqlqtah sqavgapkip svswhdvggl qevkkeilet iqlplehpel lslglrrsgl
      361 llhgppgtgk tllakavate csltflsvkg pelinmyvgq seenvrevfa raraaapcii
      421 ffdeldslap srgrsgdsgg vmdrvvsqll aeldglhstq dvfvigatnr pdlldpallr
      481 pgrfdklvfv ganedrasql rvlsaitrkf klepsvslvn vldccppqlt gadlyslcsd
      541 amtaalkrrv hdleeglepg ssalmltmed llqaaarlqp svseqellry kriqrkfaac
//
LOCUS       XP_011513306            1961 aa            linear   PRI 20-MAR-2023
DEFINITION  mediator of DNA damage checkpoint protein 1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_011513306
VERSION     XP_011513306.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011515004.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1961
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1961
                     /product="mediator of DNA damage checkpoint protein 1
                     isoform X4"
                     /calculated_mol_wt=212291
     Region          694..>834
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     Region          <815..1248
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     Region          <1099..1629
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1765..1835
                     /region_name="BRCT_MDC1_rpt1"
                     /note="first BRCT domain of mediator of DNA damage
                     checkpoint protein 1 (MDC1) and similar proteins; cd17744"
                     /db_xref="CDD:349375"
     Site            order(1770..1771,1804..1806,1808)
                     /site_type="other"
                     /note="histone H2AX interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:349375"
     Region          1867..1947
                     /region_name="BRCT_MDC1_rpt2"
                     /note="second BRCT domain of mediator of DNA damage
                     checkpoint protein 1 (MDC1) and similar proteins; cd18441"
                     /db_xref="CDD:349394"
     Site            order(1880..1881,1915..1916,1938)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:349394"
     Site            1880..1881
                     /site_type="other"
                     /note="gamma-H2AX interaction site [polypeptide binding]"
                     /db_xref="CDD:349394"
     CDS             1..1961
                     /gene="MDC1"
                     /gene_synonym="NFBD1"
                     /coded_by="XM_011515004.4:90..5975"
                     /db_xref="GeneID:9656"
                     /db_xref="HGNC:HGNC:21163"
                     /db_xref="MIM:607593"
ORIGIN      
        1 myhrldvslp fvsrgpltve etprvqgetq pqrlllaeds eeevdflser rmvkksrtts
       61 ssvivpesde eghspvlggl gppfafnlns dtdveegqqp ateeassaar rgatveakqs
      121 eaevvteiql ekdqplvker dndtkvkrga gngvvpagvi lersqppged sdtdvdddsr
      181 ppgrpaevhl eraqpfgfid sdtdaeeeri patpvvipmk krkifhgvgt rgpgapglah
      241 lqesqagsdt dveegkapqa vpleksqasm vinsdtddee evsaaltlah lkesqpaiwn
      301 rdaeedmpqr vvllqrsqtt terdsdtdve eeelpvenre avlkdhtkir alvrahsekd
      361 qppfgdsdds veadksspgi hlersqastt vdintqveke vppgsaiihi kkhqvsvegt
      421 nqtdvkavgg pakllvvsle eawplhgdce tdaeegtslt asvvadvrks qlpaegdaga
      481 ewaaavlkqe rahevgaqgg ppvaqveqdl pisrenltdl vvdtdtlges tqpqregaqv
      541 ptgrereqhv ggtkdsedny gdsedldlqa tqcflenqgl eavqsmedep tqafmltppq
      601 elgpshcsfq ttgtldepwe vlatqpfclr esedsetqpf dthleaygpc lsppraipgd
      661 qhpespvhte pmgiqgrgrq tvdkvmgipk etaervgper gpleretekl lperqtdvtg
      721 eeeltkgkqd reqkqllard tqrqesdkng esasperdre slkveietse eiqekqvqkq
      781 tlpskafere verpvanrec dpaeleekvp kvilerdtqr gepeggsqdq kgqassptpe
      841 pgvgagdlpg ptsapvpsgs qsggrgspvs prrhqkglln ckmppaekas riraaekvsr
      901 gdqespdacl pptvpeapap pqkplnsqsq khlappplls pllpsikptv rktrqdgsqe
      961 apeaplssel epfhpkpkir trkssrmtpf patsaapeph pststaqpvt pkptsqatrs
     1021 rtnrssvktp epvvptapel qpststdqpv tseptsqvtr grksrssvkt petvvptale
     1081 lqpststdrp vtseptsqat rgrknrssvk tpepvvptap elqpststdq pvtseptyqa
     1141 trgrknrssv ktpepvvpta pelrpststd rpvtpkptsr ttrsrtnmss vktpetvvpt
     1201 apelqistst dqpvtpkpts rttrsrtnms svknpestvp iapelppsts teqpvtpept
     1261 sratrgrknr ssgktpetlv ptapklepst stdqpvtpep tsqatrgrtn rssvktpetv
     1321 vptapelqps tstdqpvtpe ptsqatrgrt drssvktpet vvptapelqa sastdqpvts
     1381 eptsrttrgr knrssvktpe tvvpaapelq pststdqpvt peptsratrg rtnrssvktp
     1441 esivpiapel qpstsrnqlv tpeptsratr crtnrssvkt pepvvptape phpttstdqp
     1501 vtpkltsrat rrktnrssvk tpkpvepaas dlepftptdq svtpeaiaqg gqsktlrsst
     1561 vrampvpttp efqspvttdq pispepitqp scikrqraag npgslaapid hkpcsaplep
     1621 ksqasrnqrw gavraaeslt aipepaspql letpihasqi qkvepagrsr ftpelqpkas
     1681 qsrkrslatm dspphqkqpq rgevsqktvi ikeeeedtae kpgkeedvvt pkpgkrkrdq
     1741 aeeepnrips rslrrtklnq estapkvlft gvvdargera vlalggslag saaeashlvt
     1801 drirrtvkfl calgrgipil sldwlhqsrk agfflppdey vvtdpeqekn fgfslqdals
     1861 rarerrlleg yeiyvtpgvq ppppqmgeii sccggtylps mprsykpqrv vitcpqdfph
     1921 csiplrvglp llspeflltg vlkqeakpea fvlsplemss t
//
LOCUS       XP_011514881             557 aa            linear   PRI 20-MAR-2023
DEFINITION  cilia- and flagella-associated protein 69 isoform X20 [Homo
            sapiens].
ACCESSION   XP_011514881
VERSION     XP_011514881.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011516579.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..557
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..557
                     /product="cilia- and flagella-associated protein 69
                     isoform X20"
                     /calculated_mol_wt=62775
     CDS             1..557
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /coded_by="XM_011516579.2:252..1925"
                     /db_xref="GeneID:79846"
                     /db_xref="HGNC:HGNC:26107"
                     /db_xref="MIM:617949"
ORIGIN      
        1 mwteeagata eaqesgirnk sssssqipvv gvvteddeaq dvfkpmdlnr viklleetdk
       61 dgleekqlkf vkklvqcyqn glplrdlaqi fkilnlcsgk iknqprfies aydiiklcgl
      121 pflkkkvsde ityaedtans iallgdlmki psselriqic kcivdfyhae ppkkhipgyq
      181 qasssykiqm aevgglaktm vqsmtllenq lveklwvlkv lqhlstsevn ctimmkaqaa
      241 sgicthlndp dpsgqllfrs seilwnllek sskeeviqql snlecllalk evfknlfmrg
      301 fshydrqlrn dilvittiia qnpeapmiec gftkdlilfa tfnevksqnl lvkglklsns
      361 yedfelkkll fnvivilckd lptvqllidg kvilalftyv kkpekqkiid wsaaqheelq
      421 lhaiatlssv apllieeyms cqgnarvlaf lewcesedpf fshgnsfhgt ggrgnkfaqm
      481 ryslrllrav vyledetvnk dlcekgtiqq migifkniis kpnekeeaiv leiqsdilli
      541 lsglcenhiq rklhsel
//
LOCUS       XP_047278643            2256 aa            linear   PRI 20-MAR-2023
DEFINITION  centriolin isoform X18 [Homo sapiens].
ACCESSION   XP_047278643
VERSION     XP_047278643.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422687.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2256
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..2256
                     /product="centriolin isoform X18"
                     /calculated_mol_wt=260901
     Region          89..261
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          100..119
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          127..148
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          149..170
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          171..194
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          195..219
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          220..246
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <304..>555
                     /region_name="46"
                     /note="endonuclease subunit; Provisional; PHA02562"
                     /db_xref="CDD:222878"
     Region          <435..1035
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          <1101..>1215
                     /region_name="Pro-rich"
                     /note="Proline-rich; pfam15240"
                     /db_xref="CDD:434562"
     Region          1266..2113
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..2256
                     /gene="CNTRL"
                     /gene_synonym="bA165P4.1; CEP1; CEP110; FAN"
                     /coded_by="XM_047422687.1:318..7088"
                     /db_xref="GeneID:11064"
                     /db_xref="HGNC:HGNC:1858"
                     /db_xref="MIM:605496"
ORIGIN      
        1 mkkgsqqkif skakipsssh spipssmsnm rsrslsplig setlpfhsgg qwceqveiad
       61 ennmlldyqd hkgadshagv ryitealikk ltkqdnlali kslnlslskd ggkkfkyien
      121 lekcvklevl nlsynligki ekldkllklr elnlsynkis kiegienmcn lqklnlagne
      181 iehipvwlgk klkslrvlnl kgnkisslqd isklkplqdl islilvenpv vtlphylqft
      241 ifhlrslesl egqpvttqdr qeaferfsle everlerdle kkmieteelk skqtrfleei
      301 knqdklnksl keeamlqkqs ceelksdlnt knellkqkti eltracqkqy eleqelafyk
      361 idakfeplny ypseyaeidk apdespyigk srykrnmfat esyiidsaqa vqikkmepde
      421 qlrndhmnlr ghtpldtqle dkekkisaaq trlselhdei ekaeqqilra teefkqleea
      481 iqlkkealdl elqmekqkqe iagkqkeikd lqiaidslds kdpkhshmka qksgkeqqld
      541 imnkqyqqle srldeilsri aketeeikdl eeqltegqia anealkkdle gvisglqeyl
      601 gtikgqatqa qnecrklrde ketllqrlte veqerdqlei vamdaenmrk leqsalqael
      661 ekerqalkna lgkaqfseek eqenselhak lkhlqddnnl lkqqlkdfqn hlnhvvdglv
      721 rpeevaarvd elrrklklgt gemnihspsd vlgksladlq kqfseilars kwerdeaqvr
      781 erklqeemal qqeklatgqe efrqaceral earmnfdkrq heariqqmen eihylqenlk
      841 smeeiqgltd lqlqeadeek erilaqlrel ekkkkledak sqeqvfgldk elkklkkava
      901 tsdklatael tiakdqlksl hgtvmkinqe raeelqeaer fsrkaaqaar dltraeaeie
      961 llqnllrqkg eqfrlemekt gvgtgansqv leieklnetm erqrteiarl qnvldltgsd
     1021 nkggfenvle eiaelrrevs yqndyissma dpfkrrgywy fmppppsskv sshssqatkd
     1081 sgvglkysas tpvrkprpgq qdgkegsqpp pasgywvysp irsglhklfp srdadsggds
     1141 qeeselddqe eppfvpppgy mmytvlpdgs pvpqgmalya pppplpnnsr pltpgtvvyg
     1201 pppagapmvy gppppnfsip fipmgvlhcn vpehhnlene vsrledimqh lkskkreerw
     1261 mraskrqsek emeelhhnid dllqekksle ceveelhrtv qkrqqqkdfi dgnveslmte
     1321 leiekslkhh edivdeieci ektllkrrse lreadrllae aeselsctke ktknavekft
     1381 dakrsllqte sdaeelerra qetavnlvka dqqlrslqad akdleqhkik qeeilkeink
     1441 ivaakdsdfq clskkkeklt eelqklqkdi emaernedhh lqvlkesevl lqakraelek
     1501 lksqvtsqqq emavldrqlg hkkeelhllq gsmvqakadl qealrlgete vtekcnhire
     1561 vkslleelsf qkgelnvqis erktqltlik qeiekeeenl qvvlrqmskh ktelknildm
     1621 lqlenhelqg lklqhdqrvs elektqvavl eeklelenlq qisqqqkgei ewqkqllerd
     1681 kreiermtae sralqscvec lskekedlqe kcdiwekkla qtkrvlaaae enskmeqsnl
     1741 eklelnvrkl qqeldqlnrd klslhndisa mqqqlqekre avnslqeela nvqdhlnlak
     1801 qdllhttkhq dvllseqtrl qkdisewanr fedcqkeeet kqqqlqvlqn eieenklklv
     1861 qqemmfqrlq kereseeskl etskvtlkeq qhqlekeltd qkskldqvls kvlaaeervr
     1921 tlqeeerwce slektlsqtk rqlsereqql veksgellal qkeadsmrad fsllrnqflt
     1981 erkkaekqva slkealkiqr sqleknllti nedserdssl lskeqkqens ciqkematie
     2041 lvaqdnhera rrlmkelnqm qyeytelkkq manqkdlerr qmeisdamrt lksevkdeir
     2101 tslknlnqfl pelpadleai lernenlege leslkenlpf tmnegpfeek lnfsqvhimd
     2161 ehwrgealre klrhredrlk aqlrhcmskq aevlikgkrq tegtlhslrr qvdalgelvt
     2221 stsadsassp slsqlesslt edsqlgqnqe knasar
//
LOCUS       XP_016869752             372 aa            linear   PRI 20-MAR-2023
DEFINITION  ciliary neurotrophic factor receptor subunit alpha isoform X4 [Homo
            sapiens].
ACCESSION   XP_016869752
VERSION     XP_016869752.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014263.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..372
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..372
                     /product="ciliary neurotrophic factor receptor subunit
                     alpha isoform X4"
                     /calculated_mol_wt=40502
     Region          38..>90
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          42..46
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          54..58
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          72..76
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          86..90
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          204..300
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(204,272,289)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(290..291,293..294)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..372
                     /gene="CNTFR"
                     /coded_by="XM_017014263.2:341..1459"
                     /db_xref="GeneID:1271"
                     /db_xref="HGNC:HGNC:2170"
                     /db_xref="MIM:118946"
ORIGIN      
        1 maapvpwacc avlaaaaavv yaqrhspqea phvqyerlgs dvtlpcgtan wdaavtwrvn
       61 gtdlapdlln gsqlvlhgle lghsglyacf hrdswhlrhq vllhvglppr epvlscrsnt
      121 ypkgfycswh lptptyipnt fnvtvlhgsk imvcekdpal knrchirymh lfstikykvs
      181 isvsnalghn ataitfdeft ivkpdppenv varpvpsnpr rlevtwqtps twpdpesfpl
      241 kfflryrpli ldqwqhvels dgtahtitda yagkeyiiqv aakdneigtw sdwsvaahat
      301 pwteeprhlt teaqaaettt sttsslappp ttkicdpgel gsgggpsapf lvsvpitlal
      361 aaaaatassl li
//
LOCUS       XP_016869923            1290 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 171 isoform X6 [Homo
            sapiens].
ACCESSION   XP_016869923
VERSION     XP_016869923.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014434.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1290
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1290
                     /product="coiled-coil domain-containing protein 171
                     isoform X6"
                     /calculated_mol_wt=148755
     Region          60..796
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          455..1202
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1290
                     /gene="CCDC171"
                     /gene_synonym="bA536D16.1; bA778P13.1; C9orf93"
                     /coded_by="XM_017014434.3:372..4244"
                     /db_xref="GeneID:203238"
                     /db_xref="HGNC:HGNC:29828"
ORIGIN      
        1 mnlntssntg dtqrlkiasl dvkqilknet elditdnlrk klhwakkekl eittkhnael
       61 asyesqiakl rsevekgeal rqsleydlav arkeaglgrr aaeerlaeah riqeklcaqn
      121 selqaktnet ekafqtsqqk wkeecrrfeh dleerdnmiq ncnreydllm keksrlektl
      181 qealekhqre knemeshire taleefrlqe eqweaerrel qfivqeqdta vqnmhkkvek
      241 letehmdcsd llrrqtsele fstqreerlr kefeattlrv rkleenieae raahleskfn
      301 seiiqlrird legalqveka sqaeavadle iiknefkeve sayerekhna qesfaklnll
      361 ekeyfsknkk lnedieeqkk viidlskrlq ynekscselq eelvmakkhq aflvetcenn
      421 vkelesilds ftvsgqwtsg ihkdkdkpps fsvvlerlrr tltdyqnkle dasnelnsmn
      481 dvkekacnel dstkqkidsh tknikelqdk ladvnkelsh lhtkcadrea listlkvelq
      541 nvlhcwekek aqaaqsesel qklsqafhkd aeekltflht lyqhlvagcv likqpegmld
      601 kfswselcav lqenvdalia dlnranekir hleyicknks dtmrelqqtq edtftkvaeq
      661 ikaqescwhr qkkelelqys elflevqkra qkfqeiaekn meklnhieks heqlvlensh
      721 fkkllsqtqr eqmsllaaca lmagalyply srscalstqr dflqeqvntf elfkleirtl
      781 aqalstveek kqeeakmkkk tfkglirifr kgviavlaan rlkilgqsca slftwmesfk
      841 egigmlvctg epqdkhkfpk hqkeqlrclq alswltssdl laaiissmae lqdvigkadp
      901 nsricghlli gaaknsfakl mdkislvmec iplhssrsit yvekdslvqr lahglhkvnt
      961 lalkyglrgh vpitkstasl qkqilgftqr lhaaeverrs lrlevtefkr svnemkkeld
     1021 kaqglqmqln efkqsklith ekfesaceel nnallreeqa qmllneqaqq lqelnyklel
     1081 hsseeadknq tlgeavksls eakmelrrkd qslrqlnrhl tqleqdkrrl eenihdaesa
     1141 lrmaakdkec vanhmraven tlhkamiksf mdvyqlastr imtlekemts hrshiaalks
     1201 elhtaclren aslqsigsrd hsnlsipsra plpadttgig dflplkaeld ttytflketf
     1261 intvphalts shsspvtmsa nanrptqigl
//
LOCUS       XP_016869971            1453 aa            linear   PRI 20-MAR-2023
DEFINITION  FERM and PDZ domain-containing protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_016869971
VERSION     XP_016869971.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014482.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1453
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1453
                     /product="FERM and PDZ domain-containing protein 1 isoform
                     X3"
                     /calculated_mol_wt=159210
     Region          54..143
                     /region_name="FERM_F1_FRMPD1"
                     /note="FERM (Four.1 protein, Ezrin, Radixin, Moesin)
                     domain, F1 sub-domain, found in FERM and PDZ
                     domain-containing protein 1 (FRMPD1); cd17168"
                     /db_xref="CDD:340688"
     Region          57..276
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          272..376
                     /region_name="FERM_C_FRMPD1_FRMPD3_FRMPD4"
                     /note="FERM domain C-lobe of FERM and PDZ domain
                     containing proteins 1, 3, and 4 (FRMPD1, 3, 4); cd13183"
                     /db_xref="CDD:270004"
     Site            order(280,301,303,311)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270004"
     Site            order(315,321..324,357,361,364..365)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270004"
     Site            357..368
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270004"
     Region          430..>702
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          776..813
                     /region_name="LGNbd_FRMPD1"
                     /note="LGN tetratricopeptide repeat-binding domain found
                     in FERM and PDZ domain-containing protein 1; cd21942"
                     /db_xref="CDD:409273"
     Site            795..808
                     /site_type="other"
                     /note="TPR binding site [polypeptide binding]"
                     /db_xref="CDD:409273"
     CDS             1..1453
                     /gene="FRMPD1"
                     /gene_synonym="FRMD2"
                     /coded_by="XM_017014482.2:658..5019"
                     /db_xref="GeneID:22844"
                     /db_xref="HGNC:HGNC:29159"
                     /db_xref="MIM:616919"
ORIGIN      
        1 masalpgqlg pgvpkssflt eekrarlktn pvkvhfaeev lisghsqgns llcmpnvlkl
       61 ylengqtkaf kfeanttvkd iiltvkekls irsieyfala leeqysisrl hllheeeliq
      121 qvvereeshd yrclfrvcfv pkdpldllke dpvafeylyl qscsdvlqer favemkcssa
      181 lrlaalhiqe riyacaqpqk islkyiekdw gienfisptl lrnmkgkdik kaisfhmkrn
      241 qnlleprqkq lisaaqlrln ylqilgelkt yggrifnatl mlqdresyia llvgakygis
      301 qvinsklnim stlaefanis rvelteesek vsvvkvylqd vkvltllles nsakdlacli
      361 agyyrllvdp vtsiflwpgn kqqahrvsae egyesracsd seessevdcv leplsdrrlv
      421 klapcrslik eeqppgnspt pevarrgpst cgassttdsa eseasdsant esrgyrtsgs
      481 sesmdaleed dldtcsssrs tffhfgspgl aesidsdsqe ersgietsgf lclldlaqra
      541 npqcqktefs esaaletfgw apelstvrld prlyegshad yyslcssvsp asylsdsses
      601 tasrqggapp awgqqgwtea qpssmlepla lhpplafedg ssdeeyydaa dkltppgpps
      661 gprdvstaep satslqnkas tsspenslpc gpdgrqpsrr ggvkkyaktl rkrrsflqtd
      721 ytsqvsfplv psaslesvdd vcyydrepyl algapsptvs slqdmqgepg lletkalgll
      781 aplretkstn pasrvmemep etmetksvid srvssisair fridpnnken sgvvpaasss
      841 astphcsnpg ssgpdtaqar psqilplsqd ldgiapkept iehgdssfsl ssgdpnpdra
      901 clasnpglnn vsqgdtlelq lephvqlemg lesfctnhiq etapkytepl lsprdeprsd
      961 ecginpgeki asiptkeepq gqlslerdre vtnkngtnvf qeesrkdsgd spgdvsnnvs
     1021 qtldisspag kivtslslda pvtgteqipp hpprdpqgqs reppgqgcqa qeqklfveld
     1081 ldpdfflgkq tvspavppeg ikaeapnhvt gqdiaprdsp ewvcfnpeps lpeplpcpqe
     1141 dphletsnhc llsegksdss siclsaeksf lcfapeshpe vsaslrvats lgfagmnemv
     1201 aprigmdqcs cqfsyatcfr gpqpeteeed rdleahpmap ltsppsagsp vvlpwrpara
     1261 hscttaplsr kshiwpeycs ralrqlkatp astpegfiql mesllelqdi letswgvgnk
     1321 hppekctwhf tesrsrlcmg sqkllsscrh virmdqspee mqgavrdtfq hlvqlaglcf
     1381 qftdcsrcsa rhreaagnlr dvvytyhqfi eaakstcerg yhdlsvklla rqctaltaav
     1441 fcltqkfras tal
//
LOCUS       XP_047279935             760 aa            linear   PRI 20-MAR-2023
DEFINITION  aminopeptidase O isoform X3 [Homo sapiens].
ACCESSION   XP_047279935
VERSION     XP_047279935.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423979.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..760
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..760
                     /product="aminopeptidase O isoform X3"
                     /calculated_mol_wt=86250
     Region          <244..553
                     /region_name="GluZincin"
                     /note="Gluzincin Peptidase family (thermolysin-like
                     proteinases, TLPs) which includes peptidases M1, M2, M3,
                     M4, M13, M32 and M36 (fungalysins); cl14813"
                     /db_xref="CDD:449360"
     Region          622..>672
                     /region_name="Leuk-A4-hydro_C"
                     /note="Leukotriene A4 hydrolase, C-terminal; pfam09127"
                     /db_xref="CDD:430422"
     CDS             1..760
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /coded_by="XM_047423979.1:317..2599"
                     /db_xref="GeneID:84909"
                     /db_xref="HGNC:HGNC:1361"
                     /db_xref="MIM:619600"
ORIGIN      
        1 mdiqldpard dlplmantsh ilvkhyvldl dvdfesqvie gtivlfledg nrfkkqnssi
       61 eeacqsesnk ackfgmpepc hipvtnartf ssemeyndfa icskgekdts dkdgnhdnqe
      121 hasgisssky ccdtgnhgse dfllvldccd lsvlkveevd vaavpglekf trspeltvvs
      181 eefrnqivre lvtlpanrwr eqldyyarcs qapgcgellf dtdtwslqir ktgaqtatdf
      241 phairiwykt kpegrsvtwt sdqsgrpcvy tvgspinnra lfpcqeppva mstwqatvra
      301 aasfvvlmsg ensakptqlw eecsswyyyv tmpmpastft iavgcwtemk metwssndla
      361 terpfspsea nfrhvgvcsh meypcrfqna sattqeiiph rvfapvcltg acqetllrli
      421 ppclsaahsv lgahpfsrld vlivpanfps lgmarpskdk tghtsdsgas vikhglnpek
      481 ifmqvhylkg yfllrflakr lgdetyfsfl rkfvhtfhgq lilsqdflqm llenipeekr
      541 lelsveniyq dwlessgipk plqrerraga ecglarqvra evtkwigvnr rprkrkrrek
      601 eevfekllpd qlvlllehll eqktlsprtl qslqrtyhlq dqdaevrhrw celivkhkft
      661 kayksverfl qedqerpqqd sfirlllawg trleltldik ggimwllkps ahspvhilvl
      721 lfprgwsqpg thkrqilvna aslpggcllp wiwsgaalrf
//
LOCUS       XP_005272628             264 aa            linear   PRI 20-MAR-2023
DEFINITION  polyglutamine-binding protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_005272628
VERSION     XP_005272628.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005272571.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..264
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..264
                     /product="polyglutamine-binding protein 1 isoform X2"
                     /calculated_mol_wt=30270
     Region          47..78
                     /region_name="WW"
                     /note="Domain with 2 conserved Trp (W) residues;
                     smart00456"
                     /db_xref="CDD:197736"
     CDS             1..264
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /coded_by="XM_005272571.4:172..966"
                     /db_xref="GeneID:10084"
                     /db_xref="HGNC:HGNC:9330"
                     /db_xref="MIM:300463"
ORIGIN      
        1 mplpvalqtr lakrgilkhl epepeeeiia edydddpvdy eatrleglpp swykvfdpsc
       61 glpyywnadt dlvswlsphd pnsvvtksak klrssnadae ekldrshdks drghdksdrs
      121 hekldrghdk sdrghdksdr drergydkvd rererdrerd rdrgydkadr eegkerrhhr
      181 reelapypks kkvsrkdeel dpmdpssysd aprgtwstgl pkrneaktga dttaagplfq
      241 qrpypspgav lranaeasrt kqqd
//
LOCUS       XP_054184786             148 aa            linear   PRI 20-MAR-2023
DEFINITION  protein tyrosine phosphatase type IVA 3 isoform X3 [Homo sapiens].
ACCESSION   XP_054184786
VERSION     XP_054184786.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328811.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187574.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..148
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..148
                     /product="protein tyrosine phosphatase type IVA 3 isoform
                     X3"
                     /calculated_mol_wt=16645
     CDS             1..148
                     /gene="PTP4A3"
                     /gene_synonym="PRL-3; PRL-R; PRL3"
                     /coded_by="XM_054328811.1:2081..2527"
                     /db_xref="GeneID:11156"
                     /db_xref="HGNC:HGNC:9636"
                     /db_xref="MIM:606449"
ORIGIN      
        1 marmnrpapv evsykhmrfl ithnptnatl stfiedlkky gattvvrvce vtydktplek
       61 dgitvvdwpf ddgapppgkv vedwlslvka kfceapgscv avhcvaglgr krrgainskq
      121 ltylekyrpk qrlrfkdpht hktrccvm
//
LOCUS       XP_054184955             635 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and SOCS box protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054184955
VERSION     XP_054184955.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328980.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187601.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..635
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12-32.13"
     Protein         1..635
                     /product="ankyrin repeat and SOCS box protein 2 isoform
                     X1"
                     /calculated_mol_wt=70081
     CDS             1..635
                     /gene="ASB2"
                     /gene_synonym="ASB-2"
                     /coded_by="XM_054328980.1:262..2169"
                     /db_xref="GeneID:51676"
                     /db_xref="HGNC:HGNC:16012"
                     /db_xref="MIM:605759"
ORIGIN      
        1 matqistrgs qctigqeeys lysslsedel vqmaieqsla dktrgpttae atasactnrq
       61 pahfypwtrs tappesspar apmglfqgvm qkyssslfkt sqlapadpli kaikdgdeea
      121 lktmikegkn laepnkegwl plheaayygq vgclkvlqra ypgtidqrtl qeetavylat
      181 crghldclls llqagaepdi snksretply kacerknaea vkilvqhnad tnhrcnrgwt
      241 alhesvsrnd levmqilvsg gakvesknay gitplfvaaq sgqlealrfl akygadintq
      301 asdnasalye ackneheevv efllsqgada nktnkdgllp lhiaskkgny rivqmllpvt
      361 srtrirrsgv splhlaaern hdevlealls arfdvntpla perarlyedr rssalyfavv
      421 nnnvyatell lqhgadpnrd vispllvair hgclrtmqll ldhganiday iathptafpa
      481 timfamkcls llkflmdlgc dgepcfscly gngphppapq pssrfndapa adkepsvvqf
      541 cefvsapevs rwagpiidvl ldyvgnvqlc srlkehidsf edwavikeka epprplahlc
      601 rlrvrkaigk yriklldtlp lpgrlirylk yentq
//
LOCUS       XP_054185675             310 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA-splicing endonuclease subunit Sen34 isoform X1 [Homo sapiens].
ACCESSION   XP_054185675
VERSION     XP_054185675.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329700.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571054.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..310
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..310
                     /product="tRNA-splicing endonuclease subunit Sen34 isoform
                     X1"
                     /calculated_mol_wt=33521
     CDS             1..310
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /coded_by="XM_054329700.1:161..1093"
                     /db_xref="GeneID:79042"
                     /db_xref="HGNC:HGNC:15506"
                     /db_xref="MIM:608754"
ORIGIN      
        1 mlvvevangr slvwgaeavq alrerlgvgg rtvgalprgp rqnsrlglpl llmpeearll
       61 aeigavtlvs aprpdsrhhs laltsfkrqq eesfqeqsal aaearetrrq ellekitegq
      121 aakkqkleqa sgasssqeag ssqaakedet sdgqasgeqe eagpsssqag psngvaplpr
      181 sallvqlata rprpvkarpl dwrvqskdwp hagrpahelr ysiyrdlwer gfflsaagkf
      241 ggdflvypgd plrfhahyia qcwapedtip lqdlvaagrl gtsvrktlll cspqpdgkvv
      301 ytslqwaslq
//
LOCUS       XP_054185677             472 aa            linear   PRI 20-MAR-2023
DEFINITION  lysophospholipid acyltransferase 7 isoform X1 [Homo sapiens].
ACCESSION   XP_054185677
VERSION     XP_054185677.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329702.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571054.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..472
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..472
                     /product="lysophospholipid acyltransferase 7 isoform X1"
                     /calculated_mol_wt=52634
     CDS             1..472
                     /gene="MBOAT7"
                     /gene_synonym="BB1; hMBOA-7; LENG4; LPIAT; LPIAT1; LPLAT;
                     LPLAT11; LRC4; MBOA7; MRT57; OACT7"
                     /coded_by="XM_054329702.1:67..1485"
                     /db_xref="GeneID:79143"
                     /db_xref="HGNC:HGNC:15505"
                     /db_xref="MIM:606048"
ORIGIN      
        1 mspeewtylv vllisipigf lfkkagpglk rwgaaavglg ltlftcgpht lhslvtilgt
       61 waliqaqpcs chalalawtf syllffrals llglptptpf tnavqllltl klvslasevq
      121 dlhlaqrkem asgfskgptl gllpdvpslm etlsysycyv gimtgpffry rtyldwleqp
      181 fpgavpslrp llrrawpapl fgllfllssh lfpleavred afyarplpar lfymipvffa
      241 frmrfyvawi aaecgciaag fgaypvaaka ragggptlqc pppsspekaa sleydyetir
      301 nidcystdfc vrvrdgmryw nmtvqwwlaq yiyksapars yvlrsawtml lsaywhglhp
      361 gyylsfltip lclaaegrle salrgrlspg gqkawdwvhw flkmraydym cmgfvllsla
      421 dtlrywasiy fcihflalaa lglglalggg spsrrkaasq ptslapeklr ee
//
LOCUS       XP_054187388             375 aa            linear   PRI 20-MAR-2023
DEFINITION  negative elongation factor E isoform X2 [Homo sapiens].
ACCESSION   XP_054187388
VERSION     XP_054187388.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331413.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167249.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..375
                     /product="negative elongation factor E isoform X2"
                     /calculated_mol_wt=42601
     CDS             1..375
                     /gene="NELFE"
                     /gene_synonym="D6S45; NELF-E; RD; RDBP; RDP"
                     /coded_by="XM_054331413.1:89..1216"
                     /db_xref="GeneID:7936"
                     /db_xref="HGNC:HGNC:13974"
                     /db_xref="MIM:154040"
ORIGIN      
        1 mlvippglse eeealqkkfn klkkkkkall alkkqsssst tsqggvkrsl seqpvmdtat
       61 ateqakqlvk sgaisaikae tknsgfkrsr tlegklkdpe kgpvptfqpf qrsisadddl
      121 qessrrpqrk slyesdrlre lgpdgeeaeg pgagdgpprs fdwgyeersg ahssaspprs
      181 rsrdrshern rdrdrdrerd rdrdrdrdre rdrdrdrdrd rdrerdrdre rdrdrdregp
      241 frrsdsfper raprkgntly vygedmtptl lrgafspfgn iidlsmdppr ncafvtyekm
      301 esadqavael ngtqvesvql kvniarkqpm ldaatgksvw gslavqnspk gchrdkrtqi
      361 vysddvyken lvdgf
//
LOCUS       XP_047299046             654 aa            linear   PRI 20-MAR-2023
DEFINITION  putative POM121-like protein 1-like isoform X1 [Homo sapiens].
ACCESSION   XP_047299046
VERSION     XP_047299046.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443090.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_016107297.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..654
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p14.3"
     Protein         1..654
                     /product="putative POM121-like protein 1-like isoform X1"
                     /calculated_mol_wt=67243
     Region          <131..>227
                     /region_name="POM121"
                     /note="POM121 family; pfam15229"
                     /db_xref="CDD:434551"
     Region          382..>499
                     /region_name="POM121"
                     /note="POM121 family; pfam15229"
                     /db_xref="CDD:434551"
     CDS             1..654
                     /gene="LOC124905413"
                     /coded_by="XM_047443090.1:1..1965"
                     /db_xref="GeneID:124905413"
ORIGIN      
        1 mdaqqdrpks qdclglvapl asaaevpsta pvsgkkhrpp gplfsssdtl patsshsrds
       61 aqvtsmipap ftaasrdagm rrtrsapaaa aaapppstln ptsgsllnav dggpshflas
      121 ataaaraqrs evrynqrsqt srtrsclkrn asssshsste glpelkrrrg passhcqlah
      181 sssktvsedg aqavstghrc ekkadtapgq tlaprggspr sqasrphins alhvedkais
      241 dcrpsrpsht lsslatgasg gppvskaptm daqqdrpksq dclglvapla saaevsstap
      301 vsgkkhrppg plfsssdplp atsshsrdsa qvtslipapf taasrdasmr rtrpgtsapa
      361 aaaaapppst lnptsgslln avnggpshfl asataaaraq rsevrynqrs qtsrtrsclq
      421 gnasssshss teglpelkrr rgpaschcql alsssntvse dgpqavssgh trcqkadtap
      481 gqtlaprggs prsqasrphi nsalhvegka isdcrpsrps htlsslatga srgpplskap
      541 tmdaqqdrpk sqdclglvap lasaaevsst apvsgkkhrp pgplfsssdp lpatsshsgd
      601 saqdtslipa pltpasrdag vrrmfcvrnc lrglglfllv fsflflltwa sfsf
//
LOCUS       XP_054188245            1301 aa            linear   PRI 20-MAR-2023
DEFINITION  poly [ADP-ribose] polymerase tankyrase-1 isoform X2 [Homo sapiens].
ACCESSION   XP_054188245
VERSION     XP_054188245.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332270.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_018654717.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1301
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1-22"
     Protein         1..1301
                     /product="poly [ADP-ribose] polymerase tankyrase-1 isoform
                     X2"
                     /calculated_mol_wt=138997
     CDS             1..1301
                     /gene="TNKS"
                     /gene_synonym="ARTD5; PARP-5a; PARP5A; PARPL; pART5; TIN1;
                     TINF1; TNKS1"
                     /coded_by="XM_054332270.1:29..3934"
                     /db_xref="GeneID:8658"
                     /db_xref="HGNC:HGNC:11941"
                     /db_xref="MIM:603303"
ORIGIN      
        1 maasrrsqhh hhhhqqqlqp apgasapppp pppplspgla pgttpaspta sglapfaspr
       61 hglalpegdg srdppdrprs pdpvdgtscc sttstictva aapvvpavst ssaagvapnp
      121 agsgsnnsps ssssptssss sspsspgssl aespeaagvs staplgpgaa gpgtgvpavs
      181 galrelleac rngdvsrvkr lvdaanvnak dmagrksspl hfaagfgrkd vvehllqmga
      241 nvharddggl iplhnacsfg haevvslllc qgadpnardn wnytplheaa ikgkidvciv
      301 llqhgadpni rntdgksald ladpsakavl tgeykkdell eaarsgneek lmalltplnv
      361 nchasdgrks tplhlaagyn rvrivqlllq hgadvhakdk gglvplhnac syghyevtel
      421 llkhgacvna mdlwqftplh eaasknrvev cslllshgad ptlvnchgks avdmaptpel
      481 rerltyefkg hsllqaarea dlakvkktla leiinfkqpq shetalhcav aslhpkrkqv
      541 telllrkgan vneknkdfmt plhvaaerah ndvmevlhkh gakmnaldtl gqtalhraal
      601 aghlqtcrll lsygsdpsii slqgftaaqm gneavqqils estpirtsdv dyrlleaska
      661 gdletvkqlc ssqnvncrdl egrhstplhf aagynrvsvv eyllhhgadv hakdkgglvp
      721 lhnacsyghy evaellvrhg asvnvadlwk ftplheaaak gkyeicklll khgadptkkn
      781 rdgntpldlv kegdtdiqdl lrgdaallda akkgclarvq klctpeninc rdtqgrnstp
      841 lhlaagynnl evaeyllehg advnaqdkgg liplhnaasy ghvdiaalli kyntcvnatd
      901 kwaftplhea aqkgrtqlca lllahgadpt mknqegqtpl dlataddira llidamppea
      961 lptcfkpqat vvsaslispa stpsclsaas sidnltgpla elavggasna gdgaagterk
     1021 egevagldmn isqflkslgl ehlrdifete qitldvladm gheelkeigi nayghrhkli
     1081 kgverllggq qgtnpyltfh cvnqgtilld lapedkeyqs veeemqstir ehrdggnagg
     1141 ifnrynviri qkvvnkklre rfchrqkevs eenhnhhner mlfhgspfin aiihkgfder
     1201 hayiggmfga giyfaenssk snqyvygigg gtgcpthkdr scyichrqml fcrvtlgksf
     1261 lqfstmkmah appghhsvig rpsvnglaya eyviyrgeqi t
//
LOCUS       XP_054190344            3823 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein axonemal heavy chain 14 isoform X21 [Homo sapiens].
ACCESSION   XP_054190344
VERSION     XP_054190344.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334369.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3823
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3823
                     /product="dynein axonemal heavy chain 14 isoform X21"
                     /calculated_mol_wt=436936
     CDS             1..3823
                     /gene="DNAH14"
                     /gene_synonym="C1orf67; Dnahc14; HL-18; HL18"
                     /coded_by="XM_054334369.1:566..12037"
                     /db_xref="GeneID:127602"
                     /db_xref="HGNC:HGNC:2945"
                     /db_xref="MIM:603341"
ORIGIN      
        1 mpacpfswec hprevvessl qqlecdptei eefvehfifl naisskiskl ekefltmsql
       61 ysvakhhqih iseeqiaifq vlllkfsqlk ssmklskink dtaitkfrdn leacisglhv
      121 dvgnlkakir tplllcdgtq vstamemiqt lsgeaasltn kakayshyqd cfsdsqshmh
      181 svnveeitqi vlseisdieg dltlrkklwe aqeewrqasw ewrnsslqsi dvesvqrnvs
      241 klmhiisvle kglpksdmvt hlkqvvtefk qelpiiialg npclkprhwe alqeiigksv
      301 pldkyckven llalkifqye neindmstsa tneaalekml fkiidfwntt plplilhhte
      361 iysifiipsi ddisaqlees qvilatikgs phigpikdlv newdqnltlf sytleewmnc
      421 qrnwlylepv fhsseirrql paetelfsqv ismwkkimsk iqnkqnalqi ttsagvleil
      481 qncnihlehi kksledylev krlifprfyf lsnaelldil adsrnpesvq phlvkcfeni
      541 kqlliwkqdi gppavkmlis aegeglvlpk kirvrsaveq wlvnveksmf dvlkkflsqg
      601 iedwncqmfs qwvlshpgqv vltvsqimfy ndcvksfvss ysreklekvh aglmchleev
      661 adlvvldtsn srtkailgal lilyvhcrdi vinlllknif naedfewtrh lqykwnekqk
      721 lcyvsqgnas ftygyeylgc tsrlvitplt drcwltlmea lhlnlggcpa gpagtgktet
      781 vkdlakslgk hcvvfncfed ldykivrkff fglvqsgaws cfdefnlidl evlsviasqi
      841 ltikaakdny sarfvlegke irinmscavf itmnpryggg velpdnlksl frpvammvph
      901 yqmiaeiilf sfgfksansl sgkltnlyel arkqlsqqdh ynfglrslki vlimagtkkr
      961 efkcdtsdsl seadetlivi eaireaslpk cppedvplfe niigdifpev tvlkvnqlal
     1021 ekviytatqq lglqnwssqk ekiiqfynql qvcvgvmlvg ptgggkttvr rilekaltll
     1081 piadflsvae rksaskiser kgkvdicvln pkcvtlsely gqldpntmew tdgllsatir
     1141 syvyfntpkn tkkdidlrlk srisdlsnvf kldssdttet ddnifeeiek vvkipenhnf
     1201 dwqwiildgp vdtfwvenln svlddtrtlc lanserialt nkirvifevd nlsqaspatv
     1261 srcamvymdp vdlgwepyvk swllktskii sqsgvdclef miknsvtdgl qfirnrqkfq
     1321 pypmeditvv itlcrildaf fdfmgknggf eqsddlndts skeansqres vtfkdiekrd
     1381 entwypeknp dkltkiiqkl fvfaftwafg galnredehr enipfcpsle pdslakvtyd
     1441 fdklvhelfg nssqvginlp tgecsifgyf vdieqcefip wsdlvpndqt liqrgtsllt
     1501 nlqrsggnfl kitecgecin ytatrdttcl sflmslllkn scpvlltges gvgktaainq
     1561 mleklegpga fdikhgsilg dtllyseikk ssslkqniti lipethktat gssdnptkkp
     1621 evrtnkkllk nndhkgvvvs tinfstnvta aktkemilkk lirrtkdtlg apknnrilif
     1681 iddmnmpvsd mygaqpplel irqlldlggv ydtekntwkn iqdlsivaac vpvvndispr
     1741 llkhfsmlvl phpsqdilct ifqahlgiyf sinnftpevq kskdqiiscs laiyhqvrqn
     1801 mlptptkchy mfnlrdmfkl llgllqadrt vvnskemaal lfvheatrvf hdrlidftdk
     1861 slfyrllsre lencfqiqwt qenlmnhstv fldfldinkt hrkkiyqnts dynklasvld
     1921 efqmklgsis lelshsmvff keaiehiira trvlrqpgsh mlligidgcg kktcatlacy
     1981 ltdnklyrvp ishkcayief kevfkkvfih aglkgkptvl mvpnlnieqd sfledlnyii
     2041 ssgripdlfe nveldsiamk irylteqsgh mdnrqsllsf fqkriyknlh ifvimspegp
     2101 sfrqncrvyp smissctidw yerwpeeall ivansflkek vnfenrenlk eklaptcvqi
     2161 hksmkdlnrk yfeetgrfyy ttpnsylqfm etfahilrar eeemqtkrdr fhmglstile
     2221 attlvtemqe ellilgpqve qktketetlm eklrkdsqvv ekvqmlvkqd eeivaeevri
     2281 vedyaqktan elksvlpafd kaivalnald kadvaelrvy trppflvltv mnavcillqk
     2341 kpnwatakll lsetgflkkl inldkdsipd kvfvklkkiv tlpdfnphki slvsvaccsl
     2401 cqwvialnny hevqkvvgpk qiqvaeaqnv lkiarqrlae kqrglqlvee hllflqaayk
     2461 dtvaekqlla nrktmasrrf qcasvlltvl edektrwqet inqidnkleg ilgdillsaa
     2521 civysgiltp efrqlivnkw etfciengis lsskfslikv maqkyeisrw hnqglphgqy
     2581 svenailikn gqqwpllidp hrqahkwirq megsrlqkls iedsnytkki enamktggsv
     2641 llqnlletla pglkailkkd iyqkkghyfi rvgdaefeyn snfrlylste ienphflpsv
     2701 ynfvtminft vtfqglqdql lstvvthevp hledqrskll esisldaitl eeleektlnl
     2761 lqkalgsild ddeivdtlrk skmtsneisk rieatkkaes eiqairknyl piatrgally
     2821 flvadltqin ymyqfsldwf hqvfvssvvs kskerehsfk rekvspkevh efisiskepn
     2881 leneknlldk hiksaidmlt ksifkvvssa lfnedklcfs frlctaimqn nangnliqdd
     2941 igflpeeewn iflysgilin iksalsqskl tstfeigesq hlqwlsdsrw rqcqyvsthl
     3001 epfsllcksl lsnvsqwdtf knskavysli stpfssenas leentkppee tellnenket
     3061 cnpinfpwek ltsfqrlilv kvlrpeslnn svrkfitekm gnkylqrtgv nlkdaykgsn
     3121 artpliliqt hgidltnill rfaqelkgtt hhvtiislgr dqaakaedli lkaltktqqw
     3181 vflqnchlat sfmprlctiv esfnspnvti dpefrlwlss ksyssfpipv lkkglkiave
     3241 spqglksnll qtfgctgsge vteeifenpd cgqwwkkllf slcffnavin erknygilgw
     3301 niaykfnssd lgvaikvlen slrgqpsisw qalryligev iyggrvidnw dkrclktlly
     3361 kfcnpevlkd dfsfssdgic lpvpgsasik dyihiiqslp dddlpevlgi hpeairscwe
     3421 tqgekfienl iamqpkttta nlmirpeqsk delvmeilsd llkrlpltve keeiavgtps
     3481 tlksmmsssi weslsknlkd hdplihcvll tflkqeikrf dkllfvihks lkdlqlaikg
     3541 eiiltqelee ifnsflnmrv ptlwqkhayr sckplsswid dliqrlnffn twakvaytai
     3601 qrrymrfvtv wkqsipstsq kckhpedsen nffegfpsry wlpafffpqa flaavlqdyg
     3661 rsrgiavdal tfthhvisnt tdkdekfsvf mpkklnivrr afkgsassht gvyifglfie
     3721 garwnreqki ledslplemc cdfpdiyflp tkistktpna snqtdselya fecpvyqtpe
     3781 rsrilattgl ptnfltsvyl stkkppshwi tmrvallcek nek
//
LOCUS       XP_054191239             677 aa            linear   PRI 20-MAR-2023
DEFINITION  WD and tetratricopeptide repeats protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054191239
VERSION     XP_054191239.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335264.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..677
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..677
                     /product="WD and tetratricopeptide repeats protein 1
                     isoform X1"
                     /calculated_mol_wt=75789
     CDS             1..677
                     /gene="WDTC1"
                     /gene_synonym="ADP; DCAF9"
                     /coded_by="XM_054335264.1:215..2248"
                     /db_xref="GeneID:23038"
                     /db_xref="HGNC:HGNC:29175"
                     /db_xref="MIM:619763"
ORIGIN      
        1 makvnitrdl irrqikerga lsferryhvt dpfirrlgle aelqghsgcv nclewnekgd
       61 llasgsddqh tivwdplhhk kllsmhtght anifsvkflp hagdrilitg aadskvhvhd
      121 ltvketihmf gdhtnrvkri atapmwpntf wsaaedglir qydlrenskh sevlidltey
      181 cgqlveakcl tvnpqdnncl avgasgpfvr lydirmihnh rksmkqspsa gvhtfcdrqk
      241 plpdgaaqyy vaghlpvklp dynnrlrvlv atyvtfspng tellvnmgge qvylfdltyk
      301 qrpytfllpr kchssgevqn gkmstngvsn gvsnglhlhs ngfrlpesrg hvspqvelpp
      361 ylervkqqan eafacqqwtq aiqlyskavq raphnamlyg nraaaymkrk wdgdhydalr
      421 dclkaislnp chlkahfrla rclfelkyva ealeclddfk gkfpeqahss acdalgrdit
      481 aalfskndge ekkgpgggap vrlrstsrkd sisedemvlr ersydyqfry cghcntttdi
      541 keanffgsna qyivsgsddg sffiwekett nlvrvlqgde sivnclqphp sycflatsgi
      601 dpvvrlwnpr pesedltgrv vedmegasqa nqrrmnadpl evmllnmgyr itglssggag
      661 asddedsseg qvqcrps
//
LOCUS       XP_054191690             397 aa            linear   PRI 20-MAR-2023
DEFINITION  protein-arginine deiminase type-4 isoform X4 [Homo sapiens].
ACCESSION   XP_054191690
VERSION     XP_054191690.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335715.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..397
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..397
                     /product="protein-arginine deiminase type-4 isoform X4"
                     /calculated_mol_wt=43810
     CDS             1..397
                     /gene="PADI4"
                     /gene_synonym="PAD; PAD4; PADI5; PDI4; PDI5"
                     /coded_by="XM_054335715.1:27..1220"
                     /db_xref="GeneID:23569"
                     /db_xref="HGNC:HGNC:18368"
                     /db_xref="MIM:605347"
ORIGIN      
        1 maqgtlirvt peqpthavcv lgtltqldic ssapedctsf sinaspgvvv diahgppakk
       61 kstgsstwpl dpgvevtltm kvasgstgdq kvqisyygpk tppvkallyl tgveislcad
      121 itrtgkvkpt ravkdqrtwt wgpcgqgail lvncdrdnle ssamdcedde vldsedlqdm
      181 slmtlstktp kdfftnhtlv lhvarsemdk vrvfqatrgk lsskcsvvlg pkwpshylmv
      241 psgkhnmdfy vealafpdtd fpglitltis lldtsnlelp eavvfqdsvv frvapwimtp
      301 ntqppqevya csifenedfl ksvttlamka kcklticpee enmddqwmqd emeigyiqap
      361 hktlpvvfds prnrglkefp ikrvmilsig pfyrrrn
//
LOCUS       XP_054192261             433 aa            linear   PRI 20-MAR-2023
DEFINITION  armadillo-like helical domain containing protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054192261
VERSION     XP_054192261.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336286.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..433
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..433
                     /product="armadillo-like helical domain containing protein
                     1 isoform X2"
                     /calculated_mol_wt=48030
     CDS             1..433
                     /gene="ARMH1"
                     /gene_synonym="C1orf228; NCRNA00082; p40"
                     /coded_by="XM_054336286.1:420..1721"
                     /db_xref="GeneID:339541"
                     /db_xref="HGNC:HGNC:34345"
ORIGIN      
        1 msflqewdna gkvarshild kfietnqgkt apeleqefsq gaslflvrlt tslritymtd
       61 sclekllrsi giflsavssn rylieflevg gvltlleilg lekikeeakk esvkllqvia
      121 nsgrtykeli cesygvrsia eflaksksee tqeevqvlld slvhgnpkyq nqvykglial
      181 lpcespkaqq lslqtlrtaq piigtthpsi vdcvlkvlgt mhlevqyeai elikdlvgyd
      241 vrqallkglv allipsvkei sklqakilsd psvlqltpsl pmflqqaaaa kaigpnprpr
      301 vlarndmsia eellylrvvr glmaamgntd hsnsqrlasl tlecfvqmfp lvaehvrkcm
      361 geelyqlfls naedlymkid siqadilaan tvnvtkalcl hgssysmntl ygsrdsaqma
      421 ylthfeedve ske
//
LOCUS       XP_054193549             530 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C1orf112 isoform X4 [Homo sapiens].
ACCESSION   XP_054193549
VERSION     XP_054193549.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337574.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..530
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..530
                     /product="uncharacterized protein C1orf112 isoform X4"
                     /calculated_mol_wt=59566
     CDS             1..530
                     /gene="FIRRM"
                     /gene_synonym="Apolo1; C1orf112; FLIP; MEICA1"
                     /coded_by="XM_054337574.1:294..1886"
                     /db_xref="GeneID:55732"
                     /db_xref="HGNC:HGNC:25565"
ORIGIN      
        1 mqvvldskld lpcelqfpqc lllvvvmdkl psqpkevqtl wctdsqvset ttrisllkav
       61 fysfeqcsge lslpvhlqgl kskgkaevav tlyqhvcvhl ctfitsfhps lfaeldaall
      121 navlsanmit sllamdawcf larygtaelc ahhvtivahl ikscpgecyq linlsillkr
      181 lfffmapphq lefiqkfspk eaenlplwqh isfqalppel reqtvhevtt vgtaecrkwl
      241 srsrtlgele slntvlsall avcnsageal dtgkqtaiie vvsqlwafln ikqvadqpyv
      301 qqtfslllpl lgffiqtldp klilqavtlq tsllklelpd yvrlamldfv sslgklfipe
      361 aiqdrilpnl scmfalllad rswlleqhtl eaftqfaegt nheeivpqcl sseetknkvv
      421 sflektgfvd eteaakverv kqekgifwep fanvtveeak rsslqpyakr arqefpweee
      481 yrsalhtiag aleatesllq kgpapawlsm emealqermd klkryihtlg
//
LOCUS       XP_054194291             141 aa            linear   PRI 20-MAR-2023
DEFINITION  axin interactor, dorsalization-associated protein isoform X2 [Homo
            sapiens].
ACCESSION   XP_054194291
VERSION     XP_054194291.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338316.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..141
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..141
                     /product="axin interactor, dorsalization-associated
                     protein isoform X2"
                     /calculated_mol_wt=16313
     CDS             1..141
                     /gene="AIDA"
                     /gene_synonym="C1orf80"
                     /coded_by="XM_054338316.1:403..828"
                     /db_xref="GeneID:64853"
                     /db_xref="HGNC:HGNC:25761"
                     /db_xref="MIM:612375"
ORIGIN      
        1 mtlltiriek iglkdagqci dpyitvsvkd lngidltpvq dtpvasrked tyvhfnvdie
       61 lqkhvekltk gaaiffefkh ykpkkrftst kcfafmemde ikpgpiviel ykkptdfkrk
      121 klqlltkkpl ylhlhqtlhk e
//
LOCUS       XP_054194324            1288 aa            linear   PRI 20-MAR-2023
DEFINITION  SCL-interrupting locus protein isoform X1 [Homo sapiens].
ACCESSION   XP_054194324
VERSION     XP_054194324.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338349.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1288
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1288
                     /product="SCL-interrupting locus protein isoform X1"
                     /calculated_mol_wt=142911
     CDS             1..1288
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /coded_by="XM_054338349.1:239..4105"
                     /db_xref="GeneID:6491"
                     /db_xref="HGNC:HGNC:10879"
                     /db_xref="MIM:181590"
ORIGIN      
        1 mepiypfarp qmntrfpssr mvpfhfppsk calwnptptg dfiylhlsyy rnpklvvtek
       61 tirlayrhak qnkknsscfl lgsltadede egvtltvdrf dpgrevpecl eitptaslpg
      121 dflipckvht qelcsremiv hsvddfssal kalqchicsk dsldcgklls lrvhitsres
      181 ldsvefdlhw aavtlannfk ctpvkpipii ptalarnlss nlnisqvqgt ykygyltmde
      241 trkllllles dpkvyslplv giwlsgithi yspqvwaccl ryifnssvqe rvfsesgnfi
      301 ivlysmthke pefyecfpcd gkipdfrfql ltsketlhlf knveppdknp ircelsaesq
      361 naeteffska sknfsikrss qklssgkmpi hdhdsgvede dfsprpipsp hpvsqkiski
      421 qpsvpelslv ldgnfiesnp lptplemvnn enpplinhle hlkplqpqly dekhspevea
      481 gepslrgipn qlnqdkpall rhckvrqppa ykkgnphtrn sikpsshngp shdifeklqt
      541 vsagnvqnee ypirpstlns rqsslapqsq phdfvfsphn sgrpmelqip tpplpsycst
      601 nvcrccqhhs hiqysplnsw qgantvgsiq dvqsealqkh slfhpsgcpa lycnafcsss
      661 spialrpqgd mgscsphsni epspvarpps hmdlcnpqpc tvcmhtpkte sdngmmglsp
      721 dayrflteqd rqlrllqaqi qrlleaqslm pcspkttave dtvqagrqme lvsveaqssp
      781 glhmrkgvsi avstgaslfw naagedqepd sqmkqddtki ssedmnfsvd innevtslpg
      841 sasslkavdi psfeesniav eeefnqplsv snssslvvrk epdvpvffps gqlaesvsmc
      901 lqtgptggas nnsetseepk iehvmqpllh qpsdnqkiyq dllgqvnhll nsssketeqp
      961 stkaviishe ctrtqnvyht kkkthhsrlv dkdcvlnatl kqlrslgvki dsptkvkkna
     1021 hnvdhasvla cispeavisg lncmsfanvg msglspngvd lsmeanaial kylnenqlsq
     1081 lsvtrsnqnn cdpfsllhin tdrstvglsl ispnnmsfat kkymkrygll qssdnsedee
     1141 eppdnadsks eyllnqnlrs ipeqlggqke pskndheiin csncesvgtn adtpvlrnit
     1201 nevlqtkakq qltekpaflv knlkpspavn lrtgkaeftq hpekenegdi tifpeslqps
     1261 etlkqmnsmn svgtfldvkr lrqlpklf
//
LOCUS       XP_054194893             407 aa            linear   PRI 20-MAR-2023
DEFINITION  sorting nexin-27 isoform X6 [Homo sapiens].
ACCESSION   XP_054194893
VERSION     XP_054194893.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338918.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..407
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..407
                     /product="sorting nexin-27 isoform X6"
                     /calculated_mol_wt=46545
     CDS             1..407
                     /gene="SNX27"
                     /gene_synonym="MRT1; MY014"
                     /coded_by="XM_054338918.1:1113..2336"
                     /db_xref="GeneID:81609"
                     /db_xref="HGNC:HGNC:20073"
                     /db_xref="MIM:611541"
ORIGIN      
        1 madedgegih psaphrnggg gggggsglhc agnggggggg prvvrivkse sgygfnvrgq
       61 vynvymagrq lcskryrefa ilhqnlkref anftfprlpg kwpfslseqq ldarrrglee
      121 ylekvcsirv igesdimqef lsesdenyng vsdvelrval pdgttvtvrv kknsttdqvy
      181 qaiaakvgmd sttvnyfalf evishsfvrk lapnefphkl yiqnytsavp gtcltirkwl
      241 ftteeeilln dndlavtyff hqavddvkkg yikaeeksyq lqklyeqrkm vmylnmlrtc
      301 egyneiifph cacdsrrkgh vitaisithf klhacteegq lenqviafew demqrwdtde
      361 egmafcfeya rgekkprwvk iftpyfnymh ecfervfcel kwrkeey
//
LOCUS       XP_054195320             341 aa            linear   PRI 20-MAR-2023
DEFINITION  MAP kinase-interacting serine/threonine-protein kinase 1 isoform X7
            [Homo sapiens].
ACCESSION   XP_054195320
VERSION     XP_054195320.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339345.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..341
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..341
                     /product="MAP kinase-interacting serine/threonine-protein
                     kinase 1 isoform X7"
                     /calculated_mol_wt=38315
     CDS             1..341
                     /gene="MKNK1"
                     /gene_synonym="MNK1"
                     /coded_by="XM_054339345.1:7444..8469"
                     /db_xref="GeneID:8569"
                     /db_xref="HGNC:HGNC:7110"
                     /db_xref="MIM:606724"
ORIGIN      
        1 mqnipemgss eplpiadgdr rrkkkrrgra tdslpgkfed mykltsellg egayakvqga
       61 vslqngkeya vkiiekqagh srsrvfreve tlyqcqgnkn ilelieffed dtrfylvfek
      121 lqggsilahi qkqkhfnere asrvvrdvaa aldflhtkgi ahrdlkpeni lcespekvsp
      181 vkicdfdlgs gmklnnsctp ittpelttpc gsaeymapev vevftdqatf ydkrcdlwsl
      241 gvvlyimlsg yppfvghcga dcgwdrgevc rvcqnklfes iqegkyefpd kdwahissea
      301 kdliskllvr dakqrlsaaq vlqhpwvqge qqhngpdalr s
//
LOCUS       XP_054195859            1169 aa            linear   PRI 20-MAR-2023
DEFINITION  nonsense-mediated mRNA decay factor SMG7 isoform X3 [Homo sapiens].
ACCESSION   XP_054195859
VERSION     XP_054195859.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339884.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1169
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1169
                     /product="nonsense-mediated mRNA decay factor SMG7 isoform
                     X3"
                     /calculated_mol_wt=130472
     CDS             1..1169
                     /gene="SMG7"
                     /gene_synonym="C1orf16; EST1C; SGA56M"
                     /coded_by="XM_054339884.1:203..3712"
                     /db_xref="GeneID:9887"
                     /db_xref="HGNC:HGNC:16792"
                     /db_xref="MIM:610964"
ORIGIN      
        1 mtdsklgpae vwtsrqalqd lyqkmlvtdl eyaldkkveq dlwnhafknq ittlqgqakn
       61 ranpnrsevq anlslfleaa sgfytqllqe lctvfnvdlp crvkssqlgi isnkqthtsa
      121 ivkpqssscs yicqhclvhl gdiaryrnqt sqaesyyrha aqlvpsngqp ynqlailass
      181 kgdhlttify ycrsiavkfp fpaastnlqk alskalesrd evktkwgvsd fikafikfhg
      241 hvylskslek lsplreklee qfkrllfqka fnsqqlvhvt vinlfqlhhl rdfsneteqh
      301 tysqdeqlcw tqllalfmsf lgilckcplq nesqeesyna yplpavkvsm dwlrlrprvf
      361 qeavvderqy iwpwlislln sfhpheedls sisatplpee felqgflalr psfrnldfsk
      421 ghqgitgdke gqqrrirqqr lisigkwiad nqprliqcen evgkllfite ipeliledps
      481 eakenlilqe tsvieslaad gspglksvls tsrnlsnncd tgekpvvtfk eniktrevnr
      541 dqgrsfppke vrrdyskgit vtkndgkkdn nkrktetkkc tleklqetgk qnvavqvksq
      601 telrktpvse arktpvtqtp tqasnsqfip ihhpgafppl psrpgfpppt yvipppvafs
      661 mgsgytfpag vsvpgtflqp tahspagnqv qagkqshipy sqqrpsgpgp mnqgpqqsqp
      721 psqqpltslp aqptaqstsq lqvqaltqqq qsptkavpal gkspphhsgf qqyqqadask
      781 qlwnppqvqg plgkimpvkq pyylqtqdpi klfepslqpp vmqqqplekk mkpfpmepyn
      841 hnpsevkvpe fywdssysma dnrsvmaqqa nidrrgkrsp gvfrpeqdpv prmpfedpks
      901 spllppdllk slaaleeeee lifsnppdly pallgplasl pgrslfksll ekpselmshs
      961 ssflsltgfs lnqerypnns mfnevygknl tssskaelsp smapqetsly slfegtpwsp
     1021 slpassdhst pasqsphssn psslpssppt hnhnsvpfsn fgpigtpdnr drrtadrwkt
     1081 dkpamggfgi dylsatssse sswhqastps gtwtghgpsm edssavlmes lksiwsssmm
     1141 hpgpsaleql lmqqkqkqqr gqgtmnpph
//
LOCUS       XP_054221677             299 aa            linear   PRI 20-MAR-2023
DEFINITION  primary cilium assembly protein FAM149B1 isoform X7 [Homo sapiens].
ACCESSION   XP_054221677
VERSION     XP_054221677.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365702.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..299
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..299
                     /product="primary cilium assembly protein FAM149B1 isoform
                     X7"
                     /calculated_mol_wt=33756
     CDS             1..299
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /coded_by="XM_054365702.1:101..1000"
                     /db_xref="GeneID:317662"
                     /db_xref="HGNC:HGNC:29162"
                     /db_xref="MIM:618413"
ORIGIN      
        1 mlltiiplqr swrkfpppvt vmrktqvpka sltsqenhll hqptlgihcl lfqviqaqgy
       61 llkeartspg dmeldqnate kvqtmftaid ellyeqklsv htkslqeecq qwtasfphlr
      121 ilgrqiitps egyrlyprsp savsasyett lsqerdstif girgkklhfs ssyahkassi
      181 aksssfcsme rdeedsiivs egiieeylaf dhidieegfh gkkseaatek qklgyppiap
      241 fycmkedvla yvfdsvwckv vscmeqltrs hwegfasaln yqngasydlv ttedgtslr
//
LOCUS       XP_054222528             208 aa            linear   PRI 20-MAR-2023
DEFINITION  putative zinc finger protein 487 isoform X3 [Homo sapiens].
ACCESSION   XP_054222528
VERSION     XP_054222528.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366553.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..208
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..208
                     /product="putative zinc finger protein 487 isoform X3"
                     /calculated_mol_wt=23773
     CDS             1..208
                     /gene="ZNF487"
                     /gene_synonym="KRBO1; ZNF487P"
                     /coded_by="XM_054366553.1:179..805"
                     /db_xref="GeneID:642819"
                     /db_xref="HGNC:HGNC:23488"
ORIGIN      
        1 mmlenyslll svgycitkpe vvcklehgqv lwileeesps qshldccidd dlmekrqenq
       61 dqhlqkvdfv nnktltmdrn gvlgktfsld tnpilsrkir gncdssgmnl nniseliisn
      121 rssfvrnpae cnvrgkfllc mkrenpyarg kpleydgngk avsqnedlfr hqyiqtlkqc
      181 feynqcgkaf heeaacsthk rvcswetl
//
LOCUS       XP_054223028            1271 aa            linear   PRI 20-MAR-2023
DEFINITION  kinase non-catalytic C-lobe domain-containing protein 1 isoform X2
            [Homo sapiens].
ACCESSION   XP_054223028
VERSION     XP_054223028.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367053.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1271
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1271
                     /product="kinase non-catalytic C-lobe domain-containing
                     protein 1 isoform X2"
                     /calculated_mol_wt=136798
     CDS             1..1271
                     /gene="KNDC1"
                     /gene_synonym="bB439H18.3; C10orf23; RASGEF2; v-KIND;
                     Very-KIND"
                     /coded_by="XM_054367053.1:250..4065"
                     /db_xref="GeneID:85442"
                     /db_xref="HGNC:HGNC:29374"
                     /db_xref="MIM:616237"
ORIGIN      
        1 mqamdpaaad lyeedgkdld fydfeplptl pedeenvsla dilslrdrgl seqeawavcl
       61 ecslsmrsva haaifqslci tpdtlafnts gnvcfmeqls ddpegafvpp efdvtgntfe
      121 ahiyslgatl kaaleyvaep tleprlsqdl eallsrmqae dpgdrpdles iialceeklq
      181 ltsscrvcrs lsavgrrvls iesfgalqdv sesswrerpa pgnagprrpp gdpstdpevl
      241 ptpegpeset srgprasptk allstpvrng eshsreglag lvldaertlg eldrdalrrs
      301 rlrkvqtfpr llsdspeatl clpltrgksq lpiselfspd prkafldrkn glssfqaqpk
      361 crlwpeqepe hqlgrvpcag rstdrgpgvp gspgqpetsh psqgpaeapa dprdasgeaq
      421 tprdderipe garqlgsaaa eqwvslqdll sqlgrpfrey elwalclacl ralqtrpehp
      481 aylcldsvlv aedgavlfqp ppangsydsf flapelaeer lvtekasvyc vaavlwtaak
      541 fsvprnhkla lprrlktlll dmarrsaper psaaeaikvc gsyllqrgmd srkilahlra
      601 sicqvyqeee tislqnafsv velkpsvapa pepspgflpv nsdtglvavp gpvpgqhpcg
      661 eeatqlpaaf tseathfkpi vlaqnasvar dqpalaqees eerggqrege geeklspeah
      721 agspslktpd gpvpgpgpqg aapeplgasv qrdsaqgrpc pppqapanqp egassaapgs
      781 pvpapptkas alpveqgpae pippgdasgg lrpdalgptt ahhgprhppk pprskaterp
      841 gqepegpgat pagerddqsp dsvperprpa drrlclpcvd asplpgrtac pslqeatrli
      901 qeefafdgyl dnglealimg eyifalkdlt fatfcgaise kfcdlywdek llqnlfkvvn
      961 gqaspspsta eeagsqlegs qsprspsskr pslhrlgkek pamartssra pcsptsvsdv
     1021 dsdalsrgnf evgfrpqrsv kaeraqqpea gedrrpagga sdveavtrla rskgvgpals
     1081 pgpagfqscs pgwcsafyea dcfgadvhny vkdlgrqqad galpdaqspe leqqlmmekr
     1141 nyrktlkfyq kllqkekrnk gsdvktmlsk lkgqleemks rvqflslvkk ylqvmyaerw
     1201 glepctlpvi vniaaapcdt ldfspldess slifynvnkh pggrqkaril qagtplglma
     1261 ylysratpsp a
//
LOCUS       XP_054225103            1400 aa            linear   PRI 20-MAR-2023
DEFINITION  remodeling and spacing factor 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054225103
VERSION     XP_054225103.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369128.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1400
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1400
                     /product="remodeling and spacing factor 1 isoform X2"
                     /calculated_mol_wt=159774
     CDS             1..1400
                     /gene="RSF1"
                     /gene_synonym="HBXAP; p325; RSF-1; XAP8"
                     /coded_by="XM_054369128.1:18..4220"
                     /db_xref="GeneID:51773"
                     /db_xref="HGNC:HGNC:18118"
                     /db_xref="MIM:608522"
ORIGIN      
        1 mpcflrystv degtweggke mipkelvelh lklmrkigks vtadrwekyl ikicqefnst
       61 wawemekkgy lemsveckla llkylcecqf ddnlkfknii needadtmrl qpigrdkdgl
      121 mywyqldqdh nvrmyieeqd dqdgsswkci vrnrnelaet lallkaqidp vllknssqqd
      181 nssrespsle deetkkeeet pkqeeqkese kmkseeqpmd lenrstanvl eettvkkeke
      241 dekelvklpv ivklekplpe neekkiikee sdsfkenvkp ikvevkecra dpkdtkssme
      301 kpvaqeperi efggnikssh eiteksteet eklkndqqak iplkkreikl sddfdspvkg
      361 plcksvtptk eflkdeikqe eetckristi talghegkql vngevsderv apnfktepie
      421 tkfyetkees yspskdrnii tegngtesln svitsmktge leketaplrk dadssisvle
      481 ihsqkaqiee pdppemetsl dssemakdls sktalsstes ctmkgeeksp ktkkdkrppi
      541 leclekleks kktfldkdaq rlspipeevp kstlesekpg speaaetspp sniidhcekl
      601 asekevvecq ststvggqsv kkvdletlke dseftkvemd nldnaqtsgi eepsetkgsm
      661 qkskfkyklv peeettasen teitserqke gikltiriss rkkkpdsppk vlepenkqek
      721 tekeeektnv grtlrrspri srptakvaei rdqkadkkrg egedeveees talqktdkke
      781 ilkksekdtn skvskvkpkg kvrwtgsrtr grwkyssnde segsgsekss aaseeeeeke
      841 seeailaddd epckkcglpn hpelillcds cdsgyhtacl rpplmiipdg ewfcppcqhk
      901 llcekleeql qdldvalkkk eraerrkerl vyvgisieni ippqepdfse dqeekkkdsk
      961 kskanllerr strtrkcisy rfdefdeaid eaieddikea dgggvgrgkd istitghrgk
     1021 distildeer kenkrpqraa aarrkkrrrl ndldsdsnld eeesedefki sdgsqdefvv
     1081 sdenpdesee dppsnddsdt dfcsrrlrrh psrpmrqsrr lrrktpkkky sdddeeeese
     1141 ensrdsesdf sddfsddfve trrrrsrrnq krqinykeds esdgsqkslr rgkeirrvhk
     1201 rrlsssesee sylsknsedd elakeskrsv rkrgrstdey seadeeeeee egkpsrkrlh
     1261 rietdeeesc dnahgdanqp ardsqprvlp seqestkkpy riesdeeedf envgkvgspl
     1321 dyslvdlpst ngqspgkaie nligkpteks qtpkdnstas aslasngtsg gqeagapeee
     1381 edellrvtdl vdyvcnseql
//
LOCUS       XP_054225676             514 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase 33 isoform X1 [Homo sapiens].
ACCESSION   XP_054225676
VERSION     XP_054225676.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369701.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..514
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..514
                     /product="serine/threonine-protein kinase 33 isoform X1"
                     /calculated_mol_wt=57700
     CDS             1..514
                     /gene="STK33"
                     /coded_by="XM_054369701.1:3326..4870"
                     /db_xref="GeneID:65975"
                     /db_xref="HGNC:HGNC:14568"
                     /db_xref="MIM:607670"
ORIGIN      
        1 madsgldkks tkcpdcssas qkdvlcvcss ktrvppvlvv emsqtssigs aeslislerk
       61 kekninrdit srkdlpsrts nverkasqqq wgrgnftegk vphirienga aieeiytfgr
      121 ilgkgsfgiv ieatdketet kwaikkvnke kagssavkll erevnilksv khehiihleq
      181 vfetpkkmyl vmelcedgel keildrkghf senetrwiiq slasaiaylh nndivhrdlk
      241 lenimvkssl iddnneinln ikvtdfglav kkqsrseaml qatcgtpiym apevisahdy
      301 sqqcdiwsig vvmymllrge ppflasseek lfelirkgel hfenavwnsi sdcaksvlkq
      361 lmkvdpahri takelldnqw ltgnklssvr ptnvlemmke wknnpesvee ntteeknkps
      421 teeklksyqp wgnvpdanyt sdeeeekqst ayekqfpats kdnfdmcsss ftsskllpae
      481 ikgemektpv tpsqgtatky paksgalsrt kkkl
//
LOCUS       XP_054225745             501 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine 3-monooxygenase isoform X1 [Homo sapiens].
ACCESSION   XP_054225745
VERSION     XP_054225745.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369770.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..501
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..501
                     /product="tyrosine 3-monooxygenase isoform X1"
                     /calculated_mol_wt=55921
     CDS             1..501
                     /gene="TH"
                     /gene_synonym="DYT14; DYT5b; TYH"
                     /coded_by="XM_054369770.1:30..1535"
                     /db_xref="GeneID:7054"
                     /db_xref="HGNC:HGNC:11782"
                     /db_xref="MIM:191290"
ORIGIN      
        1 mptpdattpq akgfrravse ldakqaeaim vrgqsprfig rrqsliedar kereaavaaa
       61 aaavpsepgd pleavafeek egkavlnllf spratkpsal sravkvfetf eakihhletr
      121 paqrpraggp hleyfvrlev rrgdlaalls gvrqvsedvr spagpkvpwf prkvseldkc
      181 hhlvtkfdpd ldldhpgfsd qvyrqrrkli aeiafqyrhg dpiprveyta eeiatwkevy
      241 ttlkglyath acgehleafa llerfsgyre dnipqledvs rflkertgfq lrpvagllsa
      301 rdflaslafr vfqctqyirh asspmhspep dcchellghv pmladrtfaq fsqdiglasl
      361 gasdeeiekl stlywftvef glckqngevk aygagllssy gellhclsee peirafdpea
      421 aavqpyqdqt yqsvyfvses fsdakdklrs yasriqrpfs vkfdpytlai dvldspqavr
      481 rslegvqdel dtlahalsai g
//
LOCUS       XP_054226244             238 aa            linear   PRI 20-MAR-2023
DEFINITION  tumor necrosis factor receptor superfamily member 19L isoform X5
            [Homo sapiens].
ACCESSION   XP_054226244
VERSION     XP_054226244.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370269.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..238
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..238
                     /product="tumor necrosis factor receptor superfamily
                     member 19L isoform X5"
                     /calculated_mol_wt=25803
     CDS             1..238
                     /gene="RELT"
                     /gene_synonym="AI3C; TNFRSF19L; TRLT"
                     /coded_by="XM_054370269.1:1197..1913"
                     /db_xref="GeneID:84957"
                     /db_xref="HGNC:HGNC:13764"
                     /db_xref="MIM:611211"
ORIGIN      
        1 mhpgcwvqea lvlnheginp ayrtedaned tigvlvrlit ekkenaaale ellkeyhskq
       61 lvqtshrpvs klppappnvp hicphrhhlh tvqglaslsg pccsrcsqkk wpevllspea
      121 vaattpvpsl lpnptrvpka gakagrqgei tilsvgrfrv aripeqrtss mvsevktite
      181 agpswgdlpd spqpglppeq qallgsggsr tkwlkppaen kaeenryvvr lsesnlvi
//
LOCUS       XP_054228286            1991 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA polymerase epsilon catalytic subunit A isoform X2 [Homo
            sapiens].
ACCESSION   XP_054228286
VERSION     XP_054228286.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372311.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1991
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1991
                     /product="DNA polymerase epsilon catalytic subunit A
                     isoform X2"
                     /calculated_mol_wt=227450
     CDS             1..1991
                     /gene="POLE"
                     /gene_synonym="CRCS12; FILS; IMAGEI; POLE1"
                     /coded_by="XM_054372311.1:95..6070"
                     /db_xref="GeneID:5426"
                     /db_xref="HGNC:HGNC:9177"
                     /db_xref="MIM:174762"
ORIGIN      
        1 mareivsedi edfeftpkpe yegpfcvfne pdeahliqrw fehvqetkpt imvtyngdff
       61 dwpfvearaa vhglsmqqei gfqkdsqgey kapqcihmdc lrwvkrdsyl pvgshnlkaa
      121 akaklgydpv eldpedmcrm ateqpqtlat ysvsdavaty ylymkyvhpf ifalctiipm
      181 epdevlrkgs gtlceallmv qafhaniifp nkqeqefnkl tddghvldse tyvgghveal
      241 esgvfrsdip crfrmnpaaf dfllqrvekt lrhaleeeek vpveqvtnfe evcdeikskl
      301 aslkdvpsri ecpliyhldv gamypniilt nrlqpsamvd eatcaacdfn kpgancqrkm
      361 awqwrgefmp asrseyhriq hqlesekfpp lfpegparaf helsreeqak yekrrladyc
      421 rkaykkihit kveerlttic qrensfyvdt vrafrdrrye fkglhkvwkk klsaavevgd
      481 aaevkrcknm evlydslqla hkcilnsfyg yvmrkgarwy smemagivcf tganiitqar
      541 elieqigrpl eldtdgiwcv lpnsfpenfv fkttnvkkpk vtisypgaml nimvkegftn
      601 dqyqelaeps sltyvtrsen siffevdgpy lamilpaske egkklkkrya vfnedgslae
      661 lkgfevkrrg elqlikifqs svfeaflkgs tleevygsva kvadywldvl yskaanmpds
      721 elfelisenr smsrkledyg eqkstsista krlaeflgdq mvkdaglscr yiisrkpegs
      781 pvteraipla ifqaeptvrk hflrkwlkss slqdfdirai ldwdyyierl gsaiqkiiti
      841 paalqqvknp vprvkhpdwl hkkllekndv ykqkkiself tlegrrqvtm aeasedsprp
      901 sapdmedfgl vklphpaapv tvkrkrvlwe sqeesqdltp tvpwqeilgq ppalgtsqee
      961 wlvwlrfhkk kwqlqarqrl arrkrqrles aegvlrpgai rdgpatglgs flrrtarsil
     1021 dlpwqivqis etsqaglfrl walvgsdlhc irlsiprvfy vnqrvakaee gasyrkvnrv
     1081 lprsnmvynl yeysvpedmy qehineinae lsapdiegvy etqvpllfra lvhlgcvcvv
     1141 nkqlvrhlsg weaetfaleh lemrslaqfs ylepgsirhi ylyhhaqahk alfgifipsq
     1201 rrasvfvldt vrsnqmpslg alysaehgll lekvgpellp ppkhtfevra etdlkticra
     1261 iqrfllayke errgptliav qsswelkrla seipvleefp lvpicvadki nygvldwqrh
     1321 garrmirhyl nldtclsqaf emsryfhipi gnlpedistf gsdlffarhl qrhnhllwls
     1381 ptarpdlggk eaddnclvme fddqatvein ssgcystvcv eldlqnlavn tilqshhvnd
     1441 megadsmgis fdviqqasle dmitggqaas apasydetal csntfrilks mvvgwvkeit
     1501 qyhniyadnq vmhfyrwlrs pssllhdpal hrtlhnmmkk lflqliaefk rlgssviyan
     1561 fnriilctkk rrvedaiayv eyitssihsk etfhsltisf srcwefllwm dpsnyggikg
     1621 kvssrihcgl qdsqkaggae deqeneddee erdgeeeeea eesnvedlle nnwnilqflp
     1681 qaascqnyfl mivsayivav yhcmkdglrr sapgstpvrr rgasqlsqea egavgalpgm
     1741 itfsqdyvan eltqsfftit qkiqkkvtgs rnstelsemf pvlpgshlll nnpalefiky
     1801 vckvlsldtn itnqvnklnr dllrlvdvge fseeaqfrdp crsyvlpevi crscnfcrdl
     1861 dlckdssfse dgavlpqwlc sncqapydss aiemtlvevl qkklmaftlq dlrkeadtpk
     1921 ceekerrkre lhssatgrsc rgaseqrlgd apscrvvvhg vqacrmegvs rawrrpqdwa
     1981 sgvehpqrgw v
//
LOCUS       XP_054229044             751 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor SOX-5 isoform X10 [Homo sapiens].
ACCESSION   XP_054229044
VERSION     XP_054229044.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373069.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..751
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..751
                     /product="transcription factor SOX-5 isoform X10"
                     /calculated_mol_wt=82450
     CDS             1..751
                     /gene="SOX5"
                     /gene_synonym="L-SOX5; L-SOX5B; L-SOX5F; LAMSHF"
                     /coded_by="XM_054373069.1:600..2855"
                     /db_xref="GeneID:6660"
                     /db_xref="HGNC:HGNC:11201"
                     /db_xref="MIM:604975"
ORIGIN      
        1 msskrpaspy geadgevamv tsrqkveeee sdglpafhlp lhvsfpnkph seefqpvsll
       61 tqetcghrtp tsqhntmevd gnkvmssfap hnsstspqka eeggrqsges lsstalgtpe
      121 rrkgsladvv dtlkqrkmee liknepeetp siekllskdw kdkllamgsg nfgeikgtpe
      181 slaekerqlm gminqltslr eqllaahdeq kklaasqiek qrqqmelakq qqeqiarqqq
      241 qllqqqhkin llqqqiqqvq gqlpplmipv fppdqrtlaa aaqqgfllpp gfsykagcsd
      301 pypvqliptt maaaaaatpg lgplqlqqly aaqlaamqvs pggklpgipq gnlgaavspt
      361 sihtdkstns pppkskdeva qplnlsakpk tsdgksptsp tsphmpalri nsgagplkas
      421 vpaalaspsa rvstigylnd hdavtkaiqe arqmkeqlrr eqqvldgkva vvnslglnnc
      481 rtekekttle sltqqlavkq neegkfsham mdfnlsgdsd gsagvsesri yresrgrgsn
      541 ephikrpmna fmvwakderr kilqafpdmh nsniskilgs rwkamtnlek qpyyeeqarl
      601 skqhlekypd ykykprpkrt clvdgkklri geykaimrnr rqemrqyfnv gqqaqipiat
      661 agvvypgaia magmpsphlp sehssvsssp epgmpviqst ygvkgeephi keeiqaedin
      721 geiydeydee eddpdvdygs dsenhiagqa n
//
LOCUS       XP_054232212              71 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2
            isoform X2 [Homo sapiens].
ACCESSION   XP_054232212
VERSION     XP_054232212.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376237.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..71
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..71
                     /product="guanine nucleotide-binding protein
                     G(I)/G(S)/G(O) subunit gamma-2 isoform X2"
                     /calculated_mol_wt=7719
     CDS             1..71
                     /gene="GNG2"
                     /gene_synonym="HG3F1"
                     /coded_by="XM_054376237.1:246..461"
                     /db_xref="GeneID:54331"
                     /db_xref="HGNC:HGNC:4404"
                     /db_xref="MIM:606981"
ORIGIN      
        1 masnntasia qarklveqlk meanidrikv skaaadlmay ceahakedpl ltpvpasenp
       61 frekkffcai l
//
LOCUS       XP_054233543             916 aa            linear   PRI 20-MAR-2023
DEFINITION  major intrinsically disordered Notch2-binding receptor 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_054233543
VERSION     XP_054233543.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377568.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..916
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..916
                     /product="major intrinsically disordered Notch2-binding
                     receptor 1 isoform X1"
                     /calculated_mol_wt=102848
     CDS             1..916
                     /gene="MINAR1"
                     /gene_synonym="KIAA1024; UBTOR"
                     /coded_by="XM_054377568.1:2739..5489"
                     /db_xref="GeneID:23251"
                     /db_xref="HGNC:HGNC:29172"
                     /db_xref="MIM:618054"
ORIGIN      
        1 metsqetslf lvkileelds kqntvsyqdl ckslcarfdl sqlaklrsvl fytacldpnf
       61 patlfkdkmk ctvnnqqskk imvaadivti fnliqmngga akeklptgrq kvrkkeasfe
      121 scrsdteicn aaeceplnce lsersfsrgy pirqsskcrk mdckdcpqfv pasepnfllg
      181 vskevknraa sldrlqalap ysvtspqpce mqrtyfpmni enesisdqds lpinqsiket
      241 fisneepfvv qscvqkrnif kedfhnlmav spslvgpisk aenehrepqs rkephkppff
      301 nhsfempyns qylnpvyspv pdkrrakhes lddlqastyf gptpvmgtqe arrclgkpnk
      361 qtpwpaksws lnteevpdfe rsffnrnpse eklhypnass qtpnfpaper rptylvpkdq
      421 qpilpiayaa kqnglkskei sspvdlekhe pvkkfkdksi nctsgqlssd tssvgtqteh
      481 vlepkkcrdl ctsgqgkysd rhtmkhsddd seivsddisd ifrflddmsi sgstgviqss
      541 cynstgslsq lhksdcdssp ehnltkiang vpnskgdkgn rpenthhsee elktsvcklv
      601 lrigeierkl eslsgvrdei sqvlgklnkl dqkmqqpekv svqidlnslt segpsddsas
      661 prmfhahsgs hgpklennpd wccsdasgsn seslrvkalk kslftrpssr slteensate
      721 skiasisnsp rdwrtitytn rvglneeeik dtgpgdnkdw hrkskeadrq ydippqhrlp
      781 kqpkdgflve qvfsphpypa slkahmksnp lytdmrltel aevkrgqpsw tveeyarnag
      841 dkgkltaldl qtqeslnpnn leywmediyt pgydsllkrk eaefrrakvc kiaaliaaaa
      901 ctvilvivvp ictmks
//
LOCUS       XP_054234505            1851 aa            linear   PRI 20-MAR-2023
DEFINITION  stAR-related lipid transfer protein 9 isoform X14 [Homo sapiens].
ACCESSION   XP_054234505
VERSION     XP_054234505.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378530.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1851
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1851
                     /product="stAR-related lipid transfer protein 9 isoform
                     X14"
                     /calculated_mol_wt=205500
     CDS             1..1851
                     /gene="STARD9"
                     /gene_synonym="KIF16A"
                     /coded_by="XM_054378530.1:111..5666"
                     /db_xref="GeneID:57519"
                     /db_xref="HGNC:HGNC:19162"
                     /db_xref="MIM:614642"
ORIGIN      
        1 manvqvavrv rplskretke ggriivevdg kvakirnlkv dnrpdgfgds rekvmafgfd
       61 ycywsvnped pqyasqdvvf qdlgmevlsg vakgyniclf aygqtgsgkt ytmlgtpasv
      121 gltpricegl fvrekdcasl psscrikvsf leiynervrd llkqsgqkks ytlrvrehpe
      181 mgpyvqglsq hvvtnykqvi qlleegianr itaathvhea ssrshaifti hytqailenn
      241 lpsemaskin lvdlagsera dpsyckdria eganinkslv tlgivistla qnsqvfsscq
      301 slnssvsngg dsgilsspsg tssggapsrr qsyipyrdsv ltwllkdslg gnsktimvat
      361 vspahtsyse tmstlryass akniinkprv nedanlklir elreeterlk alllsfelrn
      421 fsslsdenlk elvlqnelki dqltkdwtqk wndwqalmeh ysvdinrrra gvvidsslph
      481 lmaleddvls tgvvlyhlke gttkigrids dqeqdivlqg qwierdhcti tsacgvvvlr
      541 pargarctvn grevtascrl tqgavitlgk aqkfrfnhpa eaavlrqrrq vgeaaagrgs
      601 lewldldgdl aasrlglspl lwkerralee qcdedhqtpr dgetshraqi qqqqsyvedl
      661 rhqilaeeir aakelefdqa wisqqikenq qcllreetwl aslqqqqqed qvaekeleas
      721 valdawlqtd peiqpspfvq sqkrvvhlql lrrhtlraae rnvrrkkvsf qleriikkqr
      781 lleaqkrlek lttlcwlqdd stqeppyqvl spdatvprpp crskltscss lspqrlcskh
      841 mpqlhsifls wdpsttlppr pdpthqtsek tsseehlpqa asypartgcl rknglhssgh
      901 gqpctaraal arkgasapda cltmspnsvg iqememgvkq phqmvsqgla slrksanklk
      961 prhepkifts ttqtrgakgl adpshtqagw rkegnlgthk aakgascnsl yphgprqtag
     1021 hgkavktfwt eykppspsra skrhqrvlat rvrnitkkss hlplgsplkr qqntrdpdtm
     1081 vpltdfspvm dhsrekdndl sdtdsnysld slscvyakal ieplkpeerk wdfpepense
     1141 sddsqlseds laekryqspk nrlggnrptn nrgqprtrtr asvrgftaas dsdllaqthr
     1201 sfsldslida eeelgedqqe epfpgsadei ptetfwhled sslpvmdqea icrlgpinyr
     1261 taarldavlp msssfyldpq fqphcelqph celqphcelq phceqaesqv epsyseqads
     1321 lqgmqlsres plmsmdswfs cdskinpssp pgivgslcps pdmqefhsck gerpgywpnt
     1381 eelkpsdaet vlpyssklhq gstellcsar dehtasaadt srlslwgiqr liqpgadgtf
     1441 qgrcipdmtq qgsseashns svsnvlaasa ttlthvgsth erdwsalqqk yllelscpvl
     1501 eaigapkpay pyleedsgsl aqasskggdt llpvgprvss nlnlnnfpvh lsrirrlrae
     1561 keqdslnakl egvsdffsts ekeasydety sadleslsas rstnaqvfat enaipdsmte
     1621 acevkqnnle eclqscrkpg lmtssdedff qknachsnvt tatkadhwsq gwaplrknsa
     1681 vqpgqlspds hypleeektd cqesskeavr rhinvsfalp sgpelylhsa pwnplssslq
     1741 pplletfyvt ksrdalteta leipacrevr vpspppreaw gfghnhqalq gaylknnlpv
     1801 llqnqnskia ssqqvtaeip vdlntrevir esgaelecga sfpyrrrytg a
//
LOCUS       XP_054235179            1000 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium/potassium/calcium exchanger 1 isoform X10 [Homo sapiens].
ACCESSION   XP_054235179
VERSION     XP_054235179.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379204.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1000
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1000
                     /product="sodium/potassium/calcium exchanger 1 isoform
                     X10"
                     /calculated_mol_wt=109663
     CDS             1..1000
                     /gene="SLC24A1"
                     /gene_synonym="CSNB1D; HsT17412; NCKX; NCKX1; RODX"
                     /coded_by="XM_054379204.1:262..3264"
                     /db_xref="GeneID:9187"
                     /db_xref="HGNC:HGNC:10975"
                     /db_xref="MIM:603617"
ORIGIN      
        1 mgklirmgpq erwllrtkrl hwsrllfllg mliigstyqh lrrprglssl waavsshqpi
       61 klasrdlsse emmmmsssps kpssemggkm lvpqasvgsd eatlsmtven ipsmpkrtak
      121 miptttknny sptaagterr kedtptssrt ltyytstssr qivkkytptp rgemksyspt
      181 qvrekvkytp sprgrrvgty vpstfmtmet shaitprttv kdsditatyk iletnslkri
      241 meettpttlk gmfdstptfl theveanvlt sprsvmeknn lfpprrvesn ssahpwglvg
      301 ksnpktpqgt vllhtpatse gqvtistmtg sspaetkaft aawslrnpsp rtsvsaikta
      361 paivwrlakk pstapststt ptvrakltmq vhhcvvvkpt pamlttpsps lttallpeel
      421 spspsvlpps lpdlhpkgey ppdlfsveer rqgwvvlhvf gmmyvfvala ivcdeyfvpa
      481 lgvitdklqi sedvagatfm aaggsapelf tsligvfish snvgigtivg savfnilfvi
      541 gtcslfsrei lnltwwplfr dvsfyildli mlilffldsl iawwesllll layafyvftm
      601 kwnkhievwv keqlsrrpva kvmaledlsk pgdgaiavde lqdnkklklp slltrgssst
      661 slhnstirst iyqlmlhsld plrevrlake keeeslnqga raqpqakaes kpeeeepakl
      721 pavtvtpapv pdikgdqken pggqedvaea estgempgee getagegete eksggetqpe
      781 gegetetqgk geecedenea egkgdneged egeihaedge mkgnegetes qelsaenhge
      841 akndekgved gggsdggdse eeeeeeeeqe eeeeeeeqee eeeeeeeeee kgneeplsld
      901 wpetrqkqai ylfllpivfp lwltvpdvrr qvgetigise eimgltilaa gtsipdlits
      961 vivarkglgd mavsssvgsn ifditvgvgs cemfqhgaih
//
LOCUS       XP_054236548             451 aa            linear   PRI 20-MAR-2023
DEFINITION  differentially expressed in FDCP 8 homolog isoform X2 [Homo
            sapiens].
ACCESSION   XP_054236548
VERSION     XP_054236548.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380573.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..451
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..451
                     /product="differentially expressed in FDCP 8 homolog
                     isoform X2"
                     /calculated_mol_wt=52150
     CDS             1..451
                     /gene="DEF8"
                     /coded_by="XM_054380573.1:71..1426"
                     /db_xref="GeneID:54849"
                     /db_xref="HGNC:HGNC:25969"
ORIGIN      
        1 meydeklarf rqahlnpfnk qsgprqheqg pgeevpdvtp eealpelppg epefrcperv
       61 mdlglsedhf srpvglflas dvqqlrqaie eckqvilelp eqsekqkdav vrlihlrlkl
      121 qelkdpnede pnirvllehr fykeksksvk qtcdkcntii wgliqtwytc tgcyyrchsk
      181 clnliskpcv sskvshqaey elnicpetgl dsqdyrcaec rapislrgvp searqcdytg
      241 qyycshchwn dlaviparvv hnwdfeprkv srcsmrylal mvsrpvlrlr einpllfsyv
      301 eelveirklr qdillmkpyf itcreamear lllqlqdrqh fvendemysv qdlldvhagr
      361 lgcslteiht lfakhikldc ercqakgfvc elcregdvlf pfdshtsvca dcsavfhrdc
      421 yydnsttcpk carlslrkqs lfqepgpdve a
//
LOCUS       XP_054169886            1251 aa            linear   PRI 20-MAR-2023
DEFINITION  rho family-interacting cell polarization regulator 1 isoform X3
            [Homo sapiens].
ACCESSION   XP_054169886
VERSION     XP_054169886.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313911.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1251
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1251
                     /product="rho family-interacting cell polarization
                     regulator 1 isoform X3"
                     /calculated_mol_wt=135339
     CDS             1..1251
                     /gene="RIPOR1"
                     /gene_synonym="FAM65A"
                     /coded_by="XM_054313911.1:435..4190"
                     /db_xref="GeneID:79567"
                     /db_xref="HGNC:HGNC:25836"
                     /db_xref="MIM:619842"
ORIGIN      
        1 mtiwqmqkqa qrgsparths mmslsvrpqr rllsarvnrs qsfagvlgsh ergpslsfrs
       61 fpvfsppgpp rkppalsrvs rmfsvahpaa kvpqperldl vytalkrglt aylevhqqeq
      121 eklqgqires krnsrlgfly dldkqvksie rflrrlefha skidelyeay cvqrrlrdga
      181 ynmvrayttg spgsreards laeatrghre ytesmclles eleaqlgefh lrmkglagfa
      241 rlcvgdqyea assylfpqic mkygrqrwkl rgriegsgkq vwdseetifl pllteflsik
      301 vtelkglanh vvvgsvscet kdlfaalpqv vavdindlgt iklslevtws pfdkddqpsa
      361 assvnkastv tkrfstysqs ppdtpslreq afynmlrrqe elengtawsl ssessddsss
      421 pqlsgtarhs paprplvqqp eplpiqvafr rpetpssgpl deegavapvl anghapysrt
      481 lshiseasvd aalaeasvea vgpeslawgp sppthpapth gehpspvppa ldpghsatss
      541 tlgttgsvpt stdpapsahl dsvhkstdsg pselpgptht ttgstysait tthsapsplt
      601 htttgsthkp iistltttgp tlniigpvqt ttspthtmps pthttaspth tstspthtpt
      661 spthktsmsp ptttsptpsg mglvqtatsp thpttspthp ttspilinvs pstslelatl
      721 sspskhsdpt lpgtdslpcs ppvsnsytqa dpmaprtphp spahssrkpl tspapdpses
      781 tvqslsptps pptpapqhsd lclamavqtp vptaaggsgd rsleealgal maalddyrgq
      841 fpelqgleqe vtrlesllmr qgltrsrass lsitvehale sfsflneded edndvpgdrp
      901 psspeagaed sidspsarpl stgcpaldaa lvrhlyhcsr lllklgtfgp lrcqeawale
      961 rllrearvle avcefsrrwe ipassaqevv qfsasrpgfl tfwdqcterl scflcpverv
     1021 lltfcnqyga rlslrqpgla eavcvkfled algqklprrp qpgpgeqltv fqfwsfvetl
     1081 dsptmeayvt etaeevllvr nlnsddqavv lkalrlapeg rlrrdglral ssllvhgnnk
     1141 vmaavstqlr slslgptfre rallcfldql ededvqtrva gclalgcika pegieplvyl
     1201 cqtdteavre aarqslqqcg eegqsahrrl eesldalpri fgpgsmasta f
//
LOCUS       XP_054171078             639 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-1,6-mannosylglycoprotein
            6-beta-N-acetylglucosaminyltransferase B isoform X2 [Homo sapiens].
ACCESSION   XP_054171078
VERSION     XP_054171078.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315103.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..639
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..639
                     /product="alpha-1,6-mannosylglycoprotein
                     6-beta-N-acetylglucosaminyltransferase B isoform X2"
                     /calculated_mol_wt=72021
     CDS             1..639
                     /gene="MGAT5B"
                     /gene_synonym="GnT-IX; GnT-VB"
                     /coded_by="XM_054315103.1:627..2546"
                     /db_xref="GeneID:146664"
                     /db_xref="HGNC:HGNC:24140"
                     /db_xref="MIM:612441"
ORIGIN      
        1 mitvnpdgki mvrrclvtlr pfrlfvlgig fftlcflmts lggqfsarrl gdspftirte
       61 vmggpesrgv lrkmsdllel mvkrmdalar lensselhra ggdlhfpadr mppgaglmer
      121 iqaiaqnvsd iavkvdqilr hslllhskvs egrrdqceap sdpkfpdcsg kvewmrarwt
      181 sdpcyaffgv dgtecsfliy lsevewfcpp lpwrnqtaaq rapkplpkvq avfrsnlshl
      241 ldlmgsgkes lifmkkrtkr ltaqwalaaq rlaqklgatq rdqkqilvhi gflteesgdv
      301 fsprvlkggp lgemvqwadi ltalyvlghg lrvtvslkel qsnlgvppgr gscpltmplp
      361 fdliytdyhg lqqmkrhmgl sfkkyrcrir vidtfgtepa ynheeyatlh gyrtnwgywn
      421 lnpkqfmtmf phtpdnsfmg fvseelnete krlikggkas nmavvygkea siwklqgkek
      481 flgilnkyme ihgtvyyesq rppevpafvk nhgllpqpef qqllrkaklf igfgfpyegp
      541 apleaiangc iflqsrfspp hsslnheffr gkptsrevfs qhpyaenfig kphvwtvdyn
      601 nseefeaaik aimrtqasss qagsapvtls rlirahtcn
//
LOCUS       XP_054172596             649 aa            linear   PRI 20-MAR-2023
DEFINITION  mitochondrial Rho GTPase 1 isoform X9 [Homo sapiens].
ACCESSION   XP_054172596
VERSION     XP_054172596.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316621.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..649
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..649
                     /product="mitochondrial Rho GTPase 1 isoform X9"
                     /calculated_mol_wt=74116
     CDS             1..649
                     /gene="RHOT1"
                     /gene_synonym="ARHT1; MIRO-1; MIRO1"
                     /coded_by="XM_054316621.1:3033..4982"
                     /db_xref="GeneID:55288"
                     /db_xref="HGNC:HGNC:21168"
                     /db_xref="MIM:613888"
ORIGIN      
        1 myictffvls lgleknhheg rgfvfllavs pvartdlaqk rhsarvgkts limslvseef
       61 peevppraee itipadvtpe rvpthivdys eaeqsdeqlh qeisqanvic ivyavnnkhs
      121 idkvtsrwip linertdkds rlplilvgnk sdlveyssme tilpimnqyt eietcvecsa
      181 knlkniself yyaqkavlhp tgplycpeek emkpacikal trifkisdqd ndgtlndael
      241 nffqricfnt plapqaledv knvvrkhisd gvadsgltlk gflflhtlfi qrgrhettwt
      301 vlrrfgyddd ldltpeylfp llkippdctt elnhhaylfl qstfdkhdld rdcalspdel
      361 kdlfkvfpyi pwgpdvnntv ctnergwity qgflsqwtlt tyldvqrcle ylgylgysil
      421 teqesqasav tvtrdkkidl qkkqtqrnvf rcnvigvknc gksgvlqall grnlmrqkki
      481 redhksyyai ntvyvygqek ylllhdises eflteaeiic dvvclvydvs npksfeycar
      541 ifkqhfmdsr ipclivaaks dlhevkqeys isptdfcrkh kmpppqaftc ntadapskdi
      601 fvklttmamy phvtqadlks stfwlrasfg atvfavlgfa mykallkqr
//
LOCUS       XP_054174452            2228 aa            linear   PRI 20-MAR-2023
DEFINITION  rotatin isoform X1 [Homo sapiens].
ACCESSION   XP_054174452
VERSION     XP_054174452.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318477.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2228
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2228
                     /product="rotatin isoform X1"
                     /calculated_mol_wt=248609
     CDS             1..2228
                     /gene="RTTN"
                     /gene_synonym="MSSP"
                     /coded_by="XM_054318477.1:30..6716"
                     /db_xref="GeneID:25914"
                     /db_xref="HGNC:HGNC:18654"
                     /db_xref="MIM:610436"
ORIGIN      
        1 mvlaglirkl ghqlaeirer alksilckie hnlicyadli qerqlflhll ewfnfpsvpm
       61 keevlnllsr lvkyppavqh lvdvgavefl sklrsnvepn lqaeidgild glfllpsevp
      121 alssaayqtn qtelsknpei ltgyfpqdks nfqqmevppr pvvnqtvkcl kfstfpwlpl
      181 tttdrhvlss nesslrssnh tliwntcell kdvimqdfpa eiflqrpkiv qsllsllkla
      241 fggdgkhrla lqsvsclqql cmylrnrlnf hrdpgffsnk hdtvsqnssl sycheargth
      301 hsqnpspgss sprpsvvgrt gqrprgdgqd wdaasssgss shahvnsris vhspldmghi
      361 dlpeletedt lelqfqqlsl pqfcvsiles avpllrtgsr qviirvlell tedmtligea
      421 istdiwddss lfgidmkekl llvlgalget mcyhkssisl eqpevmlvhh rmafisislf
      481 avrllqtllp vekaseflse pmstalflls ldmpisleyp niheavvayl eqlnsenysi
      541 ykrtaeavys iectcnflsd igkegeknll elveladqal rsfsyhqhfp likeiisics
      601 kiwksaqasp llqgesqkvl lhmlshplpr vkaetyhccl eitkeclgvh nvtkpvsslc
      661 ngihfllhpk vlyeisvfgi qepeseqvnt aakaillyll qgrlmmtalt wnkfieslcp
      721 vipilqgyad tedplgncil llskassdte emlpcttrlk smlrlllvkk psvrslalkl
      781 lafhltseeg adtkrplida rvlsrvtdlf igkkpielrl ddrrelvikl etvekvyeif
      841 tsddvdlvlr ksaaeqlavi mqdikmhavv kklclidkii eylnecvsqd gkvveclvqp
      901 cltllrkvlc gdpvmrvsls qqsslltvlf rvslifhedc svvtevgalf clllfdevsr
      961 mdmwsvnpsn kpslpsvfsl pvsvfrryhl pvhvighhav spysivlpls adclalkpvs
     1021 dmlriawnls wyhgsdnllk qmnsetktqe ildalklste diltlkithm asglqdclhs
     1081 ivqaathrev raavtrmsfy llndrlslkg cpgpcgvtlk slawhtalnr flqvlpacte
     1141 dekllidiih flnklikeqr knsslellnw ilelllrhsa nplldllvlt esqareetdd
     1201 irtavrqqlq kelialfdtl llnfmevtdr kcsellyvfq tqlalkllqc lkvtdaphfy
     1261 glpslertlr gmanltafpg wsshspltkp ldicvkylsg llevitsfyv erggnamsfm
     1321 gkgvtkstil cllhlshemm aqagslewms lwflplgshs eehiptqqgl awliplwvdr
     1381 dpevrftslg lgsalttlet gcvalanscq nisgglwgtv vnilldqsec smvrreaafi
     1441 lqnllvipmp teiikdytwq gpcvhdedsg lsligkpalq allyhchfye hlnqmvkhcy
     1501 lgrcmfdlnf safdrnsesn dlnglddsfk fwrapsrtsq drdpsslsts ettvapslgs
     1561 tefqplvqst tllpeashdq fvaqghqest sprpphdssl saplpklcvf vtpsllsamc
     1621 slldnlltia prdtakafrq ahliellcsi adatliqtcv qelrallpss ppaehtqaqv
     1681 sflleylssl srllqscllv epdlviqdel vkplitniig iltictkdvl dkelisafyh
     1741 twthlfnlla mllrkagait lpsvtvalak hwtaaidmfc tcaglsatcp alytaslqfl
     1801 svllteeakg hlqakskthl ccsptvasll ddsqenqksl eqlsdvilqc yegksskdil
     1861 krvaanalms llavsrraqk halkanlidn cmeqmkhina qlnldslrpg kaalkkkedg
     1921 vikelsiamq llrnclyqne eckeaaleah lvpvlhslwp wilmddslmq islqllcvyt
     1981 anfpngcssl cwsscgqhpv qathrgavsn slmlcilkla sqmplenttv qqmvfmllsn
     2041 lalshdckgv iqksnflqnf lslalpkggn khlsnltilw lklllnissg edgqqmilrl
     2101 dgcldlltem skykhksspl lpllifhnvc fspankpkil anekvitvla aclesenqna
     2161 qrigaaalwa liynyqkakt alkspsvkrr vdeayslakk tfpnseanpl nayylkclen
     2221 lvqllnss
//
LOCUS       XP_054174496            1422 aa            linear   PRI 20-MAR-2023
DEFINITION  SET-binding protein isoform X6 [Homo sapiens].
ACCESSION   XP_054174496
VERSION     XP_054174496.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318521.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1422
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1422
                     /product="SET-binding protein isoform X6"
                     /calculated_mol_wt=155955
     CDS             1..1422
                     /gene="SETBP1"
                     /gene_synonym="MRD29; SEB"
                     /coded_by="XM_054318521.1:496..4764"
                     /db_xref="GeneID:26040"
                     /db_xref="HGNC:HGNC:15573"
                     /db_xref="MIM:611060"
ORIGIN      
        1 mesretlsss rqrggesdfl pvssakppaa pgcageplls tpgpgkgipv ggermepeee
       61 delgsgrdvd snsnadsekw vagdgleeqe fsikeanfte gslklkiqtt krakkppknl
      121 enyicppeik itikqsgdqk vsragknska tkeeershsk kkgvtvtysd lpscvwhsav
      181 iaedclgill tasdlaasdl kgfqpqayer pqkhstlhyd tglpqdftgd tlkpkhqqks
      241 ssqnhmdwst nsdsgpvtqn cfispesgre tastskipal epvasfakaq gkkgsagntw
      301 sqlsnnnkdl llggvapsps shsspappss saecnglqpl vdqdgggtke ppepptvgsk
      361 kksskkdvis qtipnpdldw vknaqkafdn tegkregysa dsaqeaspar qnvssasnpe
      421 ndsshvriti pikapsldpt nhkrkkrqsi kavvekimpe kalasgitms sevvnrilsn
      481 segnkkdprv pklskmiene spsvgletgg naekvipggv skprkppmvm tpptctdhsp
      541 srklpeiqhp kfaakrrwtc skpkpstmlr eavmatsdkl mleppsaypi tpssplytnt
      601 dsltvitpvk kkrgrpkkqp lltvetiheg tstspvspis refpgtkkrk rrrnlaklaq
      661 lvpgedkpms emkfhkkvgk lgvldkktik tinkmktlkr knilnqilsc sssvalkaka
      721 ppetspgaaa iesklgkqin vskrgtiyig kkrgrkprae lpppseepkt aikhprpvss
      781 qpdvpavpsn fqslvasspa amhplstqlg gsngnlspas tetnfselkt mpnlqpisal
      841 ptktqkgihs gtwklspprl manspshlce igslkeitls pvseshseet ipsdsgigtd
      901 nnstsdqaek ssesrrrysf dfcsldnpea ipsdtstknr hghrqkhliv dnflaheslk
      961 kpkhkrkrks lqnrddlqfl adleelitkf qvfrishrsy tfyhenpyps ifrinfdhyy
     1021 pvpyiqydpl lylrrtsdlk skkkrgrpak tndtmtkvpf lqgfsypips gsyyapygmp
     1081 ytsmpmmnlg yygqypaply lshtlgaasp fmrptvpppq fhtnshvkms gaakhkakhg
     1141 vhlqgpvsmg lgdmqpslnp pkvgsaslss grlhkrkhkh khkhkedril gthdnlsglf
     1201 agkatgfssh ilserlssad kelplvsekn khkekqkhqh seaghkaskn nfevdtlstl
     1261 slsdaqhwtq akekgdlsse pvdsctkrys gsggdggstr senldvfsem npsndkwdsd
     1321 vsgskrrsye gfgtyrekdi qafkmnrker ssydssmspe ttiqedlynl geetskqllm
     1381 lqsqlqepse shreraravq vtcepllcsq wgrrggtwky ss
//
LOCUS       XP_054175402             822 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 4 regulatory subunit 1 isoform
            X11 [Homo sapiens].
ACCESSION   XP_054175402
VERSION     XP_054175402.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319427.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..822
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..822
                     /product="serine/threonine-protein phosphatase 4
                     regulatory subunit 1 isoform X11"
                     /calculated_mol_wt=92443
     CDS             1..822
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /coded_by="XM_054319427.1:76..2544"
                     /db_xref="GeneID:9989"
                     /db_xref="HGNC:HGNC:9320"
                     /db_xref="MIM:604908"
ORIGIN      
        1 madlsllqed lqedadgsld fvsqdemltp lgrldkyaas enifnrqmva rslldtlrev
       61 cdderdciav lerisrladd septvraelm eqvphialfc qenrpsipya fskfllpivv
      121 ryladqnnqv rktsqaalla lleqelierf dvetkvcpvl ieltapdsnd dvkteavavr
      181 qaafqslgpf istfanpsss gqyfkeesks seemsvenkn rtrdqeaped vqvrpedtps
      241 dlsvsnssvi lentmedhaa easgkplgei svpldssllc tlsseshqea asnendkkpg
      301 nyksmlrpev gttsqdsall dqelynsfhf wrtplpeidl dieleqnsgg kpspegpeee
      361 segpvpsspn itmatrkele emienlephi ddpdvkaqve vlsaalrass ldaheetisi
      421 ekrsdlqdel dinelpncki nqedsvplis davenmdstl hyihsdsdls nnssfspdee
      481 rrtkvqdvvp qalldqylsm tdpsraqtvd teiakhcays lpgvaltlgr qnwhclrety
      541 etlasdmqwk vrrtlafsih elavilgdql taadlvpifn gflkdldevr igvlkhlhdf
      601 lkllhidkrr eylyqlqefl vtdnsrnwrf raelaeqlil llelysprdv ydylrpialn
      661 lcadkvssvr wisyklvsem vkklhaatpp tfgvdlinel venfgrcpkw sgrqafvfvc
      721 qtvieddclp mdqfavhlmp hlltlandrv pnvrvllakt lrqtllekdy flasaschqe
      781 aveqtimalq mdrdsdvkyf asihpastki sedamstass ty
//
LOCUS       XP_054177886            1499 aa            linear   PRI 20-MAR-2023
DEFINITION  perilipin-4 isoform X1 [Homo sapiens].
ACCESSION   XP_054177886
VERSION     XP_054177886.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321911.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1499
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1499
                     /product="perilipin-4 isoform X1"
                     /calculated_mol_wt=149018
     CDS             1..1499
                     /gene="PLIN4"
                     /gene_synonym="KIAA1881; S3-12"
                     /coded_by="XM_054321911.1:1867..6366"
                     /db_xref="GeneID:729359"
                     /db_xref="HGNC:HGNC:29393"
                     /db_xref="MIM:613247"
ORIGIN      
        1 msapdegrrd ppkpkgktlg sffgslpgfs sarnlvanah ssararpaad ptgapaaeaa
       61 qpqaqvaahp eqtapwteke lqpsekawgp wlspslghav mdeaclqpgk gvrengrgwr
      121 celmrtssrr arvphhspmn vwltgvgqmv sgakdlvcsk msrakdavss gvasvvdvak
      181 gvvqggldtt rsaltgtkea vssgvtgamd makgavqggl dtskavltgt kdtvstgltg
      241 avnvakgtvq agvdttktvl tgtkdtvttg vmgavnlakg tvqtgvetsk avltgtkdav
      301 stgltgavnv argsiqtgvd tsktvltgtk dtvcsgvtsa mnvakgtiqt gvdtsktvlt
      361 gtkdtvcsgv tgamnvakgt iqtgvdtskt vltgtkdtvc sgvtgamnva kgtiqtgvdt
      421 tktvltgtkn tvcsgvtgav nlakeaiqgg ldttksmvmg tkdtmstglt gaanvakgam
      481 qtglnttqni atgtkdavcs gvtgamnlar gtiqtgvdtt kivltgtkdt vcsgvtgaan
      541 vakgavqggl dttksvltgt kdavstgltg avnvakgtvq tgvdttktvl tgtkdtvcsg
      601 vtsavnvakg avqggldttk svvigtkdtm stgltgaanv akgavqtgvd taktvltgtk
      661 dtvttglvga vnvakgtvqt gmdttktvlt gtkdtiysgv tsavnvakga vqtglkttqn
      721 iatgtkntfg sgvtgavnva kgavqtgvdt aktvltgtkd tvttglmgav nvakgtvqts
      781 vdttktvltg tkdtvcsgvt gaanvakgav qtgvdtaktv ltgtkdtvcs gvtgavnvak
      841 gavqtglktt qniatgtknt lgsgvtgaan vakgavqggl dttksvltgt kdavstgltg
      901 avnlakgtvq tgmdttktvl tgtkdavcsg vtgaanvakg avqtgvdtak tvltgtkdtv
      961 ttglmgavnv akgtvqtsvd ttktvltgtk dtvcsgvtga anvakgavqg gldttksvlt
     1021 gtkdtvstgl tgavnlakgt vqtgvdtskt vltgtkdtvc sgvtgavnva kgtvqtgvdt
     1081 aktvlsgakd avttgvtgav nvakgtvqtg vdaskavlmg tkdtvfsgvt gamsmakgav
     1141 qggldttktv ltgtkdavsa glmgsgnvat gathtglstf qnwlpstpat swggltssrt
     1201 tdnggeqtal spqeapfsgi stppdvlsvg pepaweaaat tkglatdvat ftqgaapgre
     1261 dtgllttthg peeaprlaml qneleglgdi fhpmnaeeqa qlaasqpgpk vlsaeqgsyf
     1321 vrlgdlgpsf rqrafehavs hlqhgqfqar dtlaqlqdcf rliekaqqap egqprldqgs
     1381 gasaedaavq eerdagvlsr vcgllrqlht aysglvsslq glpaelqqpv grarhslcel
     1441 ygivasagsv eelpaerlvq sregvhqawq gleqlleglq hnpplswlvg pfalpaggq
//
LOCUS       XP_054196016             472 aa            linear   PRI 20-MAR-2023
DEFINITION  TRAF family member-associated NF-kappa-B activator isoform X5 [Homo
            sapiens].
ACCESSION   XP_054196016
VERSION     XP_054196016.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340041.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..472
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..472
                     /product="TRAF family member-associated NF-kappa-B
                     activator isoform X5"
                     /calculated_mol_wt=53083
     CDS             1..472
                     /gene="TANK"
                     /gene_synonym="I-TRAF; ITRAF; TRAF2"
                     /coded_by="XM_054340041.1:2473..3891"
                     /db_xref="GeneID:10010"
                     /db_xref="HGNC:HGNC:11562"
                     /db_xref="MIM:603893"
ORIGIN      
        1 msrtknscct dagyfppthn fffmdkekcc rpviysilys datgrrgmdk nigeqlnkay
       61 eafrqacmdr dsavkelqqk tenyeqrire qqeqlslqqt iidklksqll lvnstqdnny
      121 gcvplledse trknnltldq pqdkvisgia reklpkvrrq evssprkets arslgspllh
      181 ergniektfw dlkeefhkic mlakaqkdhl sklnipdtat etqcsvpiqc tdktdkqeal
      241 fkpqakddin rgapsitsvt prglcrdeed tsfeslskfn vkfppmdnds tflhstperp
      301 gilspatsea vcqekfnmef rdnpgnfvkt eetlfeiqgi dpiasaiqnl kttdktkpsn
      361 lvntcirttl draaclppgd hnalyvnsfp lldpsdapfp sldspgkair gpqqpiwkpf
      421 pnqdsdsvvl sgtdselhip rvcefcqavf ppsitsrgdf lrhlnshfng et
//
LOCUS       XP_054196901             896 aa            linear   PRI 20-MAR-2023
DEFINITION  cilia- and flagella-associated protein 221 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054196901
VERSION     XP_054196901.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340926.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..896
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..896
                     /product="cilia- and flagella-associated protein 221
                     isoform X1"
                     /calculated_mol_wt=103297
     CDS             1..896
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /coded_by="XM_054340926.1:181..2871"
                     /db_xref="GeneID:200373"
                     /db_xref="HGNC:HGNC:33720"
                     /db_xref="MIM:618704"
ORIGIN      
        1 mavvktpsrg lknakepfnn asphllknlv eepkkrkevp nhlleskvya klvnnkviqa
       61 rpgiihfggy qvekqhqqil hlvnvsnedt rvhilppqtk yfeinyvrke hhlvpglslt
      121 vtvtfspdew ryyydcirvh ckgddtllvp ihaypvmnsl dfpsfinlsn vllgesktyv
      181 iplqcscpvd fefyitliqs hqafaiepts giipangkmt vtikftpfqy gtaqikmqlw
      241 isqfnsqpye cvftgtcypn malpleefer lntlskkvnv ppekammhin fhrppakpkp
      301 qkvkeieyqn lrfpvdlsnp favatvlnqe pgklkikelr evldqgteis ktrqmkealf
      361 eqkvrqdihe emenhlkwqv hlgkdpmsfk lkkelteewq kacakykldr gdpildeefq
      421 rlktevshkr vvrnqeekik efhptfdpli nntwlsrsra qkrfqqvark vmiqgrlfnm
      481 lsavremdke silrkigqak qsiaqeanff kfflrrisqd dytsrfsvsp kevlpfafpd
      541 csppqdsnel apdglglvpi kssevqikqs ysffnlqvpq lykikryqpf svhksstsyr
      601 pqklaralkq gaedevttit alpkqdsttq lsgktsilsm kppealamsl dydplyvfnp
      661 npglfavmhp ltyaetlidy hlcshpkykf tkesrhgssi pvtqkqflhh tdiipgimhw
      721 ksfqslvlss lpdpskmett kscdsfnsfm lpidvpaild alpeedrlet verelceqnv
      781 evmltpemik vefpmlnykd irkenqkpte sslpdtqsld rqgrnkknts avshfplktv
      841 lylvsgkhlf swmqriicsh smaeihqrds llpgqrswpf qdpqgnhiph kmfkel
//
LOCUS       XP_054196956            2013 aa            linear   PRI 20-MAR-2023
DEFINITION  1-phosphatidylinositol 3-phosphate 5-kinase isoform X14 [Homo
            sapiens].
ACCESSION   XP_054196956
VERSION     XP_054196956.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340981.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2013
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2013
                     /product="1-phosphatidylinositol 3-phosphate 5-kinase
                     isoform X14"
                     /calculated_mol_wt=226929
     CDS             1..2013
                     /gene="PIKFYVE"
                     /gene_synonym="CFD; FAB1; HEL37; PIP5K; PIP5K3; ZFYVE29"
                     /coded_by="XM_054340981.1:171..6212"
                     /db_xref="GeneID:200576"
                     /db_xref="HGNC:HGNC:23785"
                     /db_xref="MIM:609414"
ORIGIN      
        1 matddktspt ldsandlprs ptspshlthf kpltpdqdep pfksayssfv nlfrfnkera
       61 eggqgeqqpl sgswtspqlp srtqsvrspt pykkqlneel qrrssaladn slqhpqentg
      121 dlractycrk ialsyahstd snsigedlna lsdsacsvsv ldpseprtpv gsrkasrnif
      181 leddlawqsl ihpdssntpl strlvsvqed agksparnrs asitnlsldr sgspmvpsye
      241 tsvspqanrt yvrtettede rkilldsvql kdlwkkichh ssgmefqdhr ywlrthpnci
      301 vgkelvnwli rnghiatraq aiaigqamvd grwldcvshh dqlfrdeyal yrplqstefs
      361 etpspdsdsv nsveghseps wfkdikfdds dteqiaeegd dnlansasps krtsvssfqs
      421 tvdsdsaasi slnveldnvn fhikkpskyp hvpphpadqk eylisdtggq qlsisdafik
      481 eslfnrrvee kskelpftpl gwhhnnlell reengekqam erllsanhnh mmallqqllh
      541 sdslssswrd iivslvcqvv qtvrpdvknq dddmdirqfv hikkipggkk fdsvvvngfv
      601 ctkniahkkm nsciknpkil llkcsieyly reetkftcid pivlqerefl knyvqrivdv
      661 rptlvlvekt vsriaqdmll ehgitlvinv ksqvlerisr mtqgdlvmsm dqlltkphlg
      721 tchkfymqif qlpneqtktl mffegcpqhl gctiklrggs dyelarvkei lifmicvayh
      781 sqleisflmd efampptlmq npsfhslieg rghegavqeq ygggsipwdp dippeslpcd
      841 dssllesriv fekgeqenkn lpqavasvkh qehsttacpa glpcaffapv pesllplpvd
      901 dqqdalgsel peslqqtvvl qdpksqiraf rdplqddtgl yvteevtsse dkrktyslaf
      961 kqelkdvilc ispvitfrep flltekgmrc strdyfaeqv ywspllnkef kemenrrkkq
     1021 llrdlsglqg mngsiqaksi qvlpshelvs triaehlgds qslgrmlady rarggriqpk
     1081 nsdpfahskd asstssgksg sknegdeerg lilsdavwst kvdclnpinh qrlcvlfsss
     1141 saqssnapsa cvspwivtme fygkndltlg iflerycfrp syqcpsmfcd tpmvhhirrf
     1201 vhgqgcvqii lkeldspvpg yqhtiltysw crickqvtpv valsneswsm sfakylelrf
     1261 yghqytrran aepcghsihh dyhqyfsynq mvasfsyspi rllevcvplp kifikrqapl
     1321 kvsllqdlkd ffqkvsqvyv aiderlaslk tdtfsktree kmedifaqke meegefknwi
     1381 ekmqarlmss svdtpqqlqs vfesliakkq slcevlqawn nrlqdlfqqe kgrkrpsvpp
     1441 spgrlrqgee skisamdasp rnispglqng ekedrflttl ssqsstssth lqlptppevm
     1501 seqsvggppe ldtasssedv fdghllgstd sqvkekstmk aifanllpgn synpipfpfd
     1561 pdkhylmyeh ervpiavcek epssiiafal sckeyrnale elskatqwns aeeglptnst
     1621 sdsrpksssp irlpemsggq tnrttetepq ptkkasgmls ffrgtagksp dlssqkretl
     1681 rgadsayyqv gqtgkegten qgvepqdevd ggdtqkkqli nphvelqfsd anakfycrly
     1741 yagefhkmre vildsseedf irslshsspw qarggksgaa fyateddrfi lkqmprlevq
     1801 sfldfaphyf nyitnavqqk rptalakilg vyrigyknsq nntekkldll vmenlfygrk
     1861 maqvfdlkgs lrnrnvktdt gkescdvvll denllkmvrd nplyirshsk avlrtsihsd
     1921 shflsshlii dysllvgrdd tsnelvvgii dyirtftwdk klemvvkstg ilggqgkmpt
     1981 vvspelyrtr fceamdkyfl mvpdhwtglg lnc
//
LOCUS       XP_054197066            1196 aa            linear   PRI 20-MAR-2023
DEFINITION  EH domain-binding protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054197066
VERSION     XP_054197066.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341091.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1196
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1196
                     /product="EH domain-binding protein 1 isoform X2"
                     /calculated_mol_wt=136107
     CDS             1..1196
                     /gene="EHBP1"
                     /gene_synonym="HPC12; NACSIN"
                     /coded_by="XM_054341091.1:359..3949"
                     /db_xref="GeneID:23301"
                     /db_xref="HGNC:HGNC:29144"
                     /db_xref="MIM:609922"
ORIGIN      
        1 masvwkrlqr vgkhaskfqf vasyqelmve ctkkwqpdkl vvvwtrrsrr ksskahswqp
       61 giknpyrgvv vwpvpeniei tvtlfkdpha eefedkewtf vienespsgr rkalatssin
      121 mkqyaspmpt qtdvklkfkp lskkvvsaal qfslsciflr egkatdedmq slaslmsmkq
      181 adignlddfe ednedddenr vnqeekaaki telinklnfl deaekdlatv nsnpfddpda
      241 aelnpfgdpd seepitetas prktedsfyn nsynpfkevq tpqylnpfde peafvtikds
      301 ppqstkrkni rpvdmskyly adsskteeee ldesnpfyep kstpppnnlv npvqeleter
      361 rvkrkapapp vlspktgvln entvsagkdl stspkpspip spvlgrkpna sqsllvwcke
      421 vtknyrgvki tnfttswrng lsfcailhhf rpdlidyksl npqdikennk kaydgfasig
      481 isrllepsdm vllaipdklt vmtylyqira hfsgqelnvv qieensskst ykvgnyetdt
      541 nssvdqekfy aelsdlkrep elqqpisgav dflsqddsvf vndsgvgese sehqtpddhl
      601 spstaspycr rtksdtepqk sqqssgrtsg sddpgicsnt dstqaqvllg kkrllkaetl
      661 elsdlyvsdk kkdmsppfic eetdeqklqt ldigsnleke klensrslec rsdpespikk
      721 tslsptsklg ysysrdldla kkkhaslrqt esdpdadrtt lnhadhsski vqhrllsrqe
      781 elkerarvll eqarrdaalk agnkhntnta tpfcnrqlsd qqdeerrrql rerarqliae
      841 arsgvkmsel psygemaaek lkerskasgd endnieidtn eeipegfvvg ggdeltnlen
      901 dldtpeqnsk lvdlklkkll evqpqvansp ssaaqkavte sseqdmksgt edlrterlqk
      961 tterfrnpvv fskdstvrkt qlqsfsqyie nrpemkrqrs iqedtkkgne ekaaitetqr
     1021 kpsedevlnk gfkdtsqyvv gelaaleneq kqidtraalv ekrlrylmdt grnteeeeam
     1081 mqewfmlvnk knalirrmnq lsllekehdl erryellnre lramlaiedw qkteaqkrre
     1141 qllldelval vnkrdalvrd ldaqekqaee edehlertle qnkgkmakke ekcvlq
//
LOCUS       XP_054199052             418 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase pellino homolog 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054199052
VERSION     XP_054199052.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343077.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..418
                     /product="E3 ubiquitin-protein ligase pellino homolog 1
                     isoform X1"
                     /calculated_mol_wt=46155
     CDS             1..418
                     /gene="PELI1"
                     /coded_by="XM_054343077.1:2229..3485"
                     /db_xref="GeneID:57162"
                     /db_xref="HGNC:HGNC:8827"
                     /db_xref="MIM:614797"
ORIGIN      
        1 mfspdqenhp skapvkygel ivlgyngslp ngdrgrrksr falfkrpkan gvkpstvhia
       61 ctpqaakais nkdqhsisyt lsraqtvvve ythdsntdmf qigrstespi dfvvtdtvpg
      121 sqsnsdtqsv qstisrfacr iicernppft ariyaagfds skniflgeka akwktsdgqm
      181 dglttngvlv mhprngfted skpgiwreis vcgnvfslre trsaqqrgkm veietnqlqd
      241 gslidlcgat llwrtaegls htptvkhlea lrqeinaarp qcpvgfntla fpsmkrkdvv
      301 dekqpwvyln cghvhgyhnw gnkeerdgkd recpmcrsvg pyvplwlgce agfyvdagpp
      361 thafspcghv csekttayws qiplphgtht fhaacpfcah qlageqgyir lifqgpld
//
LOCUS       XP_054199153            1579 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase HECW2 isoform X1 [Homo sapiens].
ACCESSION   XP_054199153
VERSION     XP_054199153.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343178.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1579
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1579
                     /product="E3 ubiquitin-protein ligase HECW2 isoform X1"
                     /calculated_mol_wt=176471
     CDS             1..1579
                     /gene="HECW2"
                     /gene_synonym="NDHSAL; NEDL2"
                     /coded_by="XM_054343178.1:556..5295"
                     /db_xref="GeneID:57520"
                     /db_xref="HGNC:HGNC:29853"
                     /db_xref="MIM:617245"
ORIGIN      
        1 massarehll fvrrrnpqmr ytlspenlqs laaqssmpen mtlqransdt dlvtsesrss
       61 ltasmyeytl gqaqnliifw dikeevdpsd wiglyhiden spanfwdskn rgvtgtqkgq
      121 ivwriepgpy fmepeikicf kyyhgisgal rattpcitvk npavmmgaeg meggasgnlh
      181 srklvsftls dlravglkkg mffnpdpylk msiqpgkkss fptcahhgqe rrstiisntt
      241 npiwhrekys ffalltdvle ieikdkfaks rpiikrflgk ltipvqrlle rqaigdqmls
      301 ynlgrrlpad hvsgylqfkv evtssvheem lfshsdaspe avgtilgvns vngdlgspsd
      361 dedmpgshhd sqvcsngpvs edsaadgtpk hsfrtsstle idteeltsts srtspprgrq
      421 dslndyldai ehnghsrpgt atcsersmga spklrssfpt dtrlnamlhi dsdeedhefq
      481 qdlgypssle eegglimfsr asraddgslt sqtklednpv eneeasthea asfedkpenl
      541 pelaesslpa gpapeegegg pepqpsadqg saelcgsqev dqptsgadtg tsdasggsrr
      601 avsetesldq gsepsqvsse tepsdparte svseastrpe gesdlecads scnesvttql
      661 ssvdtrcssl esarfpetpa fssqeeedga caaeptssgp aegsqesvct agslpvvqvp
      721 sgedegpgae satvpdqeel gevwqrrgsl egaaaaaesp pqeegsagea qgtcegataq
      781 eegatggsqa nghqplrslp svrqdvsryq rvdealppnw earidshgri fyvdhvnrtt
      841 twqrptappa pqvlqrsnsi qqmeqlnrry qsirrtmtne rpeentnaid gageeadfhq
      901 asadfrreni lphstsrsri tlllqsppvk flispefftv lhsnpsayrm ftnntclkhm
      961 itkvrrdthh feryqhnrdl vgflnmfank qlelprgwem khdhqgkaff vdhnsrtttf
     1021 idprlplqss rptsalvhrq hltrqrshsa gevgedsrha gppvlprpss tfntvsrpqy
     1081 qdmvpvaynd kivaflrqpn ifeilqerqp dltrnhslre kiqfirtegt pglvrlssda
     1141 dlvmllslfe eeimsyvpph allhpsycqs prgspvsspq nspgtqrana rapapykrdf
     1201 eaklrnfyrk letkgygqgp gklkliirrd hlledafnqi mgysrkdlqr nklyvtfvge
     1261 egldysgpsr effflvsrel fnpyyglfey sandtytvqi spmsafvdnh hewfrfsgri
     1321 lglalihqyl ldafftrpfy kallrilcdl sdleyldeef hqslqwmkdn dihdildltf
     1381 tvneevfgqi terelkpgga nipvteknkk eyiermvkwr iergvvqqte slvrgfyevv
     1441 darlvsvfda relelviagt aeidlsdwrn nteyrggyhd nhivirwfwa averfnneqr
     1501 lrllqfvtgt ssipyegfas lrgsngprrf cvekwgkita lprahtcfnr ldlppypsfs
     1561 mlyeklltav eetstfgle
//
LOCUS       XP_054200194             753 aa            linear   PRI 20-MAR-2023
DEFINITION  lysyl oxidase homolog 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054200194
VERSION     XP_054200194.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344219.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..753
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..753
                     /product="lysyl oxidase homolog 3 isoform X1"
                     /calculated_mol_wt=83036
     CDS             1..753
                     /gene="LOXL3"
                     /gene_synonym="LOXL; MYP28"
                     /coded_by="XM_054344219.1:129..2390"
                     /db_xref="GeneID:84695"
                     /db_xref="HGNC:HGNC:13869"
                     /db_xref="MIM:607163"
ORIGIN      
        1 mrpvsvwqws pwglllcllc ssclgspsps tgpekkagsq glrfrlagfp rkpyegrvei
       61 qragewgtic dddftlqaah ilcrelgfte atgwthsaky gpgtgriwld nlscsgteqs
      121 vtecasrgwg nsdcthdeda gvickdqrlp gfsdsnviev ehhlqveevr irpavgwgrr
      181 plpvteglve vrlpdgwsqv cdkgwsahns hvvcgmlgfp sekrvnaafy rllaqrqqhs
      241 fglhgvacvg teahlslcsl efyrandtar cpgggpavvs cvpgpvyaas sgqkkqqqsk
      301 pqgearvrlk ggahpgegrv evlkastwgt vcdrkwdlha asvvcrelgf gsarealsga
      361 rmgqgmgaih lsevrcsgqe lslwkcphkn itaedcshsq dagvrcnlpy tgaetrirls
      421 ggrsqhegrv evqiggpgpl rwglicgddw gtleamvacr qlglgyanhg lqetwywdsg
      481 nitevvmsgv rctgtelsld qcahhgthit ckrtgtrfta gvicsetasd lllhsalvqe
      541 tayiedrplh mlycaaeenc lassarsanw pyghrrllrf ssqihnlgra dfrpkagrhs
      601 wvwhechghy hsmdifthyd iltpngtkva eghkasfcle dtecqedvsk ryecanfgeq
      661 gitvgcwdly rhdidcqwid itdvkpgnyi lqvvinpnfe vaesdftnna mkcnckydgh
      721 riwvhnchig dafseeanrr ferypgqtsn qii
//
LOCUS       XP_054179273             874 aa            linear   PRI 20-MAR-2023
DEFINITION  activity-dependent neuroprotector homeobox protein isoform X4 [Homo
            sapiens].
ACCESSION   XP_054179273
VERSION     XP_054179273.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323298.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 8% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..874
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..874
                     /product="activity-dependent neuroprotector homeobox
                     protein isoform X4"
                     /calculated_mol_wt=97095
     CDS             1..874
                     /gene="ADNP"
                     /gene_synonym="ADNP1; HVDAS; MRD28"
                     /coded_by="XM_054323298.1:1190..3814"
                     /db_xref="GeneID:23394"
                     /db_xref="HGNC:HGNC:15766"
                     /db_xref="MIM:611386"
ORIGIN      
        1 mpksyealvq hviedherig yqvtamight nvvvprskpl mliapkpqdk ksmglpprig
       61 slasgnvrsl psqqmvnrls ipkpnlnstg vnmmssvhlq qnnygvksvg qgysvgqsmr
      121 lglggnapvs ipqqsqsvkq llpsgngrsy glgseqrsqa paryslqsan asslssgqlk
      181 spslsqsqas rvlgqssskp aaaatgpppg ntsstqkwki cticnelfpe nvysvhfeke
      241 hkaekvpava nyimkihnft skclycnryl ptdtllnhml ihglscpycr stfndvekma
      301 ahmrmvhide emgpktdstl sfdltlqqgs htnihllvtt ynlrdapaes vayhaqnnpp
      361 vppkpqpkvq ekadipvkss pqaavpykkd vgktlcplcf silkgpisda lahhlrerhq
      421 viqtvhpvek kltykcihcl gvytsnmtas titlhlvhcr gvgktqngqd ktnapsrlnq
      481 spslapvkrt yeqmefpllk krkldddsds psffeekpee pvvlaldpkg heddsyeark
      541 sfltkyfnkq pyptrreiek laaslwlwks diashfsnkr kkcvrdceky kpgvllgfnm
      601 kelnkvkhem dfdaewlfen hdekdsrvna sktadkklnl gkeddsssds fenleeesne
      661 sgspfdpvfe vepkisndnp eehvlkvipe daseseekld qkedgskyet ihlteeptkl
      721 mhnasdsevd qddvvewkdg aspsesgpgs qqvsdfednt cemkpgtwsd essqsedars
      781 skpaakkkat mqgdreqlkw knssygkveg fwskdqsqwk nasenderls npqiewqnst
      841 idsedgeqfd nmtdgvaepm hgslagvkls sqqa
//
LOCUS       XP_054180377             214 aa            linear   PRI 20-MAR-2023
DEFINITION  GDP-fucose protein O-fucosyltransferase 2 isoform X15 [Homo
            sapiens].
ACCESSION   XP_054180377
VERSION     XP_054180377.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324402.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..214
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..214
                     /product="GDP-fucose protein O-fucosyltransferase 2
                     isoform X15"
                     /calculated_mol_wt=25185
     CDS             1..214
                     /gene="POFUT2"
                     /gene_synonym="C21orf80; FUT13"
                     /coded_by="XM_054324402.1:620..1264"
                     /db_xref="GeneID:23275"
                     /db_xref="HGNC:HGNC:14683"
                     /db_xref="MIM:610249"
ORIGIN      
        1 mldraenllh dhyggkeywd trrsmvfarh lrevgdefrs rhlnstddad ripfqedwmk
       61 mkvklgsalg gpylgvhlrr kdfiwghrqd vpslegavrk irslmkthrl dkvfvatdav
      121 rkeyeelkkl lpemvrfept weelelykdg gvaiidqwic aharffigts vstfsfrihe
      181 ereilgldpk ttynrfcgdq ekaceqpthw kity
//
LOCUS       XP_054180583             370 aa            linear   PRI 20-MAR-2023
DEFINITION  poly(rC)-binding protein 3 isoform X7 [Homo sapiens].
ACCESSION   XP_054180583
VERSION     XP_054180583.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324608.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..370
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..370
                     /product="poly(rC)-binding protein 3 isoform X7"
                     /calculated_mol_wt=39206
     CDS             1..370
                     /gene="PCBP3"
                     /gene_synonym="ALPHA-CP3; PCBP3-OT1; PCBP3OT"
                     /coded_by="XM_054324608.1:482..1594"
                     /db_xref="GeneID:54039"
                     /db_xref="HGNC:HGNC:8651"
                     /db_xref="MIM:608502"
ORIGIN      
        1 mgegdafwap svlphstlst lshhpqpqfg rrmeskvseg glnvtltirl lmhgkevgsi
       61 igkkgetvkk mreesgarin isegncperi vtitgptdai fkafamiayk feediinsms
      121 nspatskppv tlrlvvpasq cgsligkggs kikeirestg aqvqvagdml pnsteravti
      181 sgtpdaiiqc vkqicvvmle sppkgatipy rpkpastpvi faggqaytiq gqyaiphpdl
      241 tklhqlamqq tpfpplgqtn pafpgeklpl hsseeaqnlm gqssgldasp pastheltip
      301 ndligciigr qgtkineirq msgaqikian ategsserqi titgtpanis laqylinarl
      361 tsevtgmgtl
//
LOCUS       XP_054202492             132 aa            linear   PRI 20-MAR-2023
DEFINITION  chemokine-like protein TAFA-1 isoform X2 [Homo sapiens].
ACCESSION   XP_054202492
VERSION     XP_054202492.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346517.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..132
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..132
                     /product="chemokine-like protein TAFA-1 isoform X2"
                     /calculated_mol_wt=14641
     CDS             1..132
                     /gene="TAFA1"
                     /gene_synonym="FAM19A1; TAFA-1"
                     /coded_by="XM_054346517.1:665..1063"
                     /db_xref="GeneID:407738"
                     /db_xref="HGNC:HGNC:21587"
                     /db_xref="MIM:617495"
ORIGIN      
        1 mamvsamswv lylwisacam llchgslqht fqqhhlhrpg gtceviaahr ccnknrieer
       61 sqtvkcsclp gkvagttrnr pscvdasivi gkwwcemepc legeecktlp dnsgwmcatg
      121 nkikttrihp rt
//
LOCUS       XP_054203714             104 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin-conjugating enzyme E2 E2 isoform X3 [Homo sapiens].
ACCESSION   XP_054203714
VERSION     XP_054203714.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347739.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..104
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..104
                     /product="ubiquitin-conjugating enzyme E2 E2 isoform X3"
                     /calculated_mol_wt=11235
     CDS             1..104
                     /gene="UBE2E2"
                     /gene_synonym="UBCH8"
                     /coded_by="XM_054347739.1:174..488"
                     /db_xref="GeneID:7325"
                     /db_xref="HGNC:HGNC:12478"
                     /db_xref="MIM:602163"
ORIGIN      
        1 msteaqrvdd spstsggssd gdqresvqqe pereqvqpkk kegkisskta aklstsakri
       61 qkelaeitld pppncrnpsp imgkvppvrr phmgtpppse emyp
//
LOCUS       XP_054205189             992 aa            linear   PRI 20-MAR-2023
DEFINITION  evC complex member EVC isoform X1 [Homo sapiens].
ACCESSION   XP_054205189
VERSION     XP_054205189.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349214.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..992
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..992
                     /product="evC complex member EVC isoform X1"
                     /calculated_mol_wt=111802
     CDS             1..992
                     /gene="EVC"
                     /gene_synonym="DWF-1; EVC1; EVCL"
                     /coded_by="XM_054349214.1:181..3159"
                     /db_xref="GeneID:2121"
                     /db_xref="HGNC:HGNC:3497"
                     /db_xref="MIM:604831"
ORIGIN      
        1 marggaacks darlllgrda lrpapallap avllgaalgl glglwlgcra grqrtrhqkd
       61 dtqnllknle snaptpsetg spsrrrkrev qmskdkeavd eceppsnsni tafalkakvi
      121 ypinqkfrpl adgssnpslh enlkqavlph qpveaspsss lgslsqgekd dcsssssvhs
      181 atsddrflsr tflrvnafpe vlacesvdvd lciyslhlkd llhldtalrq ekhmmfiqif
      241 kmclldllpk kksddelhqk ilskqekdle elekglqvkl sntemsgagd seyitladve
      301 kkereyseql idnmeafwkq maniqhflvd qfkcssskar qlmmtlterm iaaegllcds
      361 qelqaldale rtmgrahmak vieflklqvq eetrcrlaai shglellage gklsgrqkee
      421 lltqqhkafw qeaerfsref vqrgkdlvka slahqvegta kltlaqeeeq rsflaeaqpt
      481 adpekfleaf hevlerqrlm qcdleeeenv rateavvalc qelyfstvdt fqkfvdalfl
      541 qtlpgmtglp peecdylrqe vqenaawqlg ksnrfqrqqw klfqelleqd qqvwmeecal
      601 ssvlqthlre dhegtirgvl grlggltees trcvlqghdl llrsalrrla lrgnalatlt
      661 qmrlsgkkhl lqelreqral eqgssqclde hqwqllrale arvleeasrl eeeaqqtrlq
      721 lqqrllaeaq evgqllqqhm ecaigqallv harnaatksr akdrddfkrt lmeaavesvy
      781 vtsagvsrlv qayyqqigri medheerklq hlktlqgerm enyklrkkqe lsnpssgsrt
      841 aggahetsqa vhqrmlsqqk rflaqfpvhq qmrlhaqqqq agvmdlleaq letqlqeaeq
      901 nfiselaala rvplaeskll pakrgllekp lrtkrkkplp qergdlgvpn nedlasgdqt
      961 sgslsskrls qqeseagdsg nskkmlkrrs nl
//
LOCUS       XP_054206494             537 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 2, facilitated glucose transporter member 9
            isoform X8 [Homo sapiens].
ACCESSION   XP_054206494
VERSION     XP_054206494.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350519.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..537
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..537
                     /product="solute carrier family 2, facilitated glucose
                     transporter member 9 isoform X8"
                     /calculated_mol_wt=58334
     CDS             1..537
                     /gene="SLC2A9"
                     /gene_synonym="GLUT9; GLUTX; UAQTL2; URATv1"
                     /coded_by="XM_054350519.1:69..1682"
                     /db_xref="GeneID:56606"
                     /db_xref="HGNC:HGNC:13446"
                     /db_xref="MIM:606142"
ORIGIN      
        1 markqnrnsk elglvpltdd tshagppgpg rallecdhlr sgvpggrrrk dwscsllvas
       61 lagafgssfl ygynlsvvna ptpyikafyn eswerrhgrp idpdtltllw svtvsifaig
      121 glvgtlivkm igkvlgrkht llanngfais aallmacslq agafemlivg rfimgidggv
      181 alsvlpmyls eispkeirgs lgqvtaific igvftgqllg lpellgkest wpylfgvivv
      241 pavvqllslp flpdspryll lekhnearav kafqtflgka dvsqeveevl aesrvqrsir
      301 lvsvlellra pyvrwqvvtv ivtmacyqlc glnaiwfytn sifgkagipl akipyvtlst
      361 ggietlaavf sglviehlgr rplliggfgl mglffgtlti tltlqdhapw vpylsivgil
      421 aiiasfcsgp ggipfiltge ffqqsqrpaa fiiagtvnwl snfavgllfp fiqksldtyc
      481 flvfaticit gaiylyfvlp etknrtyaei sqafskrnka yppeekidsa vtdaqrn
//
LOCUS       XP_054206856             226 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 156 isoform X10 [Homo sapiens].
ACCESSION   XP_054206856
VERSION     XP_054206856.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350881.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 24% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..226
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..226
                     /product="transmembrane protein 156 isoform X10"
                     /calculated_mol_wt=26117
     CDS             1..226
                     /gene="TMEM156"
                     /coded_by="XM_054350881.1:373..1053"
                     /db_xref="GeneID:80008"
                     /db_xref="HGNC:HGNC:26260"
ORIGIN      
        1 mriflnpsnf rnftrtcqdi tgefkmcssc lvceskgnmd fisqeqtskv lirrgsmevk
       61 andfhspcqh fnfsvaplvd hleeynttch lknhtgrsti medepskeks inytcrimey
      121 pndcihislh lemdiknitc smkitwyilv llvfifliil tirkilegqr rvqkwqshrd
      181 kptsvllrgs dseklralnv qvlsaettqr lpldqvqevl ppipel
//
LOCUS       XP_054206908             512 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium/calmodulin-dependent protein kinase type II subunit delta
            isoform X3 [Homo sapiens].
ACCESSION   XP_054206908
VERSION     XP_054206908.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350933.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..512
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..512
                     /product="calcium/calmodulin-dependent protein kinase type
                     II subunit delta isoform X3"
                     /calculated_mol_wt=57700
     CDS             1..512
                     /gene="CAMK2D"
                     /gene_synonym="CAMKD"
                     /coded_by="XM_054350933.1:671..2209"
                     /db_xref="GeneID:817"
                     /db_xref="HGNC:HGNC:1462"
                     /db_xref="MIM:607708"
ORIGIN      
        1 mastttctrf tdeyqlfeel gkgafsvvrr cmkiptgqey aakiintkkl sardhqkler
       61 earicrllkh pnivrlhdsi seegfhylvf dlvtggelfe divareyyse adashciqqi
      121 leavlhchqm gvvhrdlkpe nlllaskskg aavkladfgl aievqgdqqa wfgfagtpgy
      181 lspevlrkdp ygkpvdmwac gvilyillvg yppfwdedqh rlyqqikaga ydfpspewdt
      241 vtpeakdlin kmltinpakr itasealkhp wicqrstvas mmhrqetvdc lkkfnarrkl
      301 kgailttmla trnfsaksll kkpdgvkepq ttvihnpdgn kestessntt iededvkark
      361 qeiikvteql ieainngdfe aytkicdpgl tafepealgn lvegmdfhrf yfenalsksn
      421 kpihtiilnp hvhlvgddaa ciayirltqy mdgsgmpktm qseetrvwhr rdgkwqnvhf
      481 hrsgsptvpi kppcipngke nfsggtslwq ni
//
LOCUS       XP_054207140             865 aa            linear   PRI 20-MAR-2023
DEFINITION  prominin-1 isoform X1 [Homo sapiens].
ACCESSION   XP_054207140
VERSION     XP_054207140.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351165.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..865
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..865
                     /product="prominin-1 isoform X1"
                     /calculated_mol_wt=97071
     CDS             1..865
                     /gene="PROM1"
                     /gene_synonym="AC133; CD133; CORD12; MCDR2; MSTP061;
                     PROML1; RP41; STGD4"
                     /coded_by="XM_054351165.1:692..3289"
                     /db_xref="GeneID:8842"
                     /db_xref="HGNC:HGNC:9454"
                     /db_xref="MIM:604365"
ORIGIN      
        1 malvlgslll lglcgnsfsg gqpsstdapk awnyelpatn yetqdshkag pigilfelvh
       61 iflyvvqprd fpedtlrkfl qkayeskidy dkpetvilgl kivyyeagii lccvlgllfi
      121 ilmplvgyff cmcrccnkcg gemhqrqken gpflrkcfai sllviciiis igifygfvan
      181 hqvrtrikrs rkladsnfkd lrtllnetpe qikyilaqyn ttkdkaftdl nsinsvlggg
      241 ildrlrpnii pvldeiksma taiketkeal enmnstlksl hqqstqlsss ltsvktslrs
      301 slndplclvh pssetcnsir lslsqlnsnp elrqlppvda eldnvnnvlr tdldglvqqg
      361 yqslndipdr vqrqtttvva gikrvlnsig sdidnvtqrl piqdilsafs vyvnntesyi
      421 hrnlptleey dsywwlgglv icslltlivi fyylgllcgv cgydrhatpt trgcvsntgg
      481 vflmvgvgls flfcwilmii vvltfvfgan veklicepyt skelfrvldt pyllnedwey
      541 ylsgklfnks kmkltfeqvy sdckknrgty gtlhlqnsfn isehlnineh tgsisseles
      601 lkvnlnifll gaagrknlqd faacgidrmn ydsylaqtgk spagvnllsf aydleakans
      661 lppgnlrnsl krdaqtikti hqqrvlpieq slstlyqsvk ilqrtgngll ervtrilasl
      721 dfaqnfitnn tssviieetk kygrtiigyf ehylqwiefs isekvasckp vataldtavd
      781 vflcsyiidp lnlfwfgigk atvfllpali favklakyyr rmdsedvydd vetipmknme
      841 ngnngyhkdh vygihnpvmt spsqh
//
LOCUS       XP_054208229             586 aa            linear   PRI 20-MAR-2023
DEFINITION  NAD(P) transhydrogenase, mitochondrial isoform X3 [Homo sapiens].
ACCESSION   XP_054208229
VERSION     XP_054208229.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352254.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..586
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..586
                     /product="NAD(P) transhydrogenase, mitochondrial isoform
                     X3"
                     /calculated_mol_wt=60511
     CDS             1..586
                     /gene="NNT"
                     /gene_synonym="GCCD4"
                     /coded_by="XM_054352254.1:255..2015"
                     /db_xref="GeneID:23530"
                     /db_xref="HGNC:HGNC:7863"
                     /db_xref="MIM:607878"
ORIGIN      
        1 mvttfglagi vgyhtvwgvt palhsplmsv tnaisgltav gglalmgghl ypsttsqgla
       61 alaafissvn iaggflvtqr mldmfkrptd ppeynylyll pagtfvggyl aalysgynie
      121 qimylgsglc cvgalaglst qgtarlgnal gmigvaggla atlgvlkpgp ellaqmsgam
      181 alggtiglti akriqisdlp qlvaafhslv glaavltcia eyiieyphfa tdaaanltki
      241 vaylgtyigg vtfsgsliay gklqgllksa plllpgrhll nagllaasvg giipfmvdps
      301 fttgitclgs vsalsavmgv tltaaiggad mpvvitvlns ysgwalcaeg fllnnnllti
      361 vgaligssga ilsyimcvam nrslanvilg gygttstagg kpmeisgtht einldnaidm
      421 ireansiiit pgyglcaaka qypiadlvkm lteqgkkvrf gihpvagrmp gqlnvllaea
      481 gvpydivlem deinhdfpdt dlvlvigand tvnsaaqedp nsiiagmpvl evwkskqviv
      541 mkrslgvgya avdnpifykp ntamllgdak ktcdalqakv resyqk
//
LOCUS       XP_054208256            1692 aa            linear   PRI 20-MAR-2023
DEFINITION  rapamycin-insensitive companion of mTOR isoform X3 [Homo sapiens].
ACCESSION   XP_054208256
VERSION     XP_054208256.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352281.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1692
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1692
                     /product="rapamycin-insensitive companion of mTOR isoform
                     X3"
                     /calculated_mol_wt=190333
     CDS             1..1692
                     /gene="RICTOR"
                     /gene_synonym="AVO3; hAVO3; PIA"
                     /coded_by="XM_054352281.1:23..5101"
                     /db_xref="GeneID:253260"
                     /db_xref="HGNC:HGNC:28611"
                     /db_xref="MIM:609022"
ORIGIN      
        1 maaigrgrsl knlrvrepsd nlreilqnva rlqgvsnmrk lghlnnftkl lcdighseek
       61 lgfhyediii clrlallnea kevraaglra lryliqdssi lqkvlklkvd yliarcidiq
      121 qsnevertqa lrlvrkmitv naslfpssvt nsliavgndg lqerdrmvra ciaiicelal
      181 qnpevvalrg glntilknvi dcqlsrinea littilhlln hpktrqyvra dvelerilap
      241 ytdfhyrhsp dtaegqlked rearflaskm giiatfrswa giinlckpgn sgiqsligvl
      301 cipnmeirrg llevlydifr lplpvvteef ieallsvdpg rfqdswrlsd gfvaaeakti
      361 lphrarsrpd lmdnylalil safirnglle glvevitnsd dhisvratil lgellhmant
      421 ilphshshhl hclptlmnma asfdipkekr lrasaalncl krfhemkkrg pkpyslhldh
      481 iiqkaiathq krdqylrvqk difilkdtee allinlrdsq vlqhkenlew nwnligtilk
      541 wpnvnlrnyk deqlhrfvrr llyfykpssk lyanldldfa kakqltvvgc qftefllese
      601 edgqgyledl vkdivqwlna ssgmkpersl qnngllttls qhyflfigtl schphgvkml
      661 ekcsvfqcll nlcslknqdh llkltvssld ysrdglarvi lskiltaatd acrlyatkhl
      721 rvllranvef fnnwgiellv tqlhdknkti ssealdilde acedkanlha liqmkpalsh
      781 lgdkglllll rflsipkgfs ylnergyvak qlekwhreyn skyvdlieeq lnealttyrk
      841 pvdgdnyvrr snqrlqrphv ylpihlygql vhhktgchll evqniitelc rnvrtpdldk
      901 weeikklkas lwalgnigss nwglnllqee nvipdilkla kqcevlsirg tcvyvlglia
      961 ktkqgcdilk chnwdavrhs rkhlwpvvpd dveqlcnels sipstlslns estssrhnse
     1021 sesvpssmfi leddrfgsss tstffldine dteptfydrs gpikdknsfp ffassklvkn
     1081 rilnsltlpn kkhrsssdpk ggklsseskt snrrirtlte psvdfnhsdd ftpistvqkt
     1141 lqletsfmgn khiedtgstp sigendlkft knfgtenhre ntsrerlvve sstsshmkir
     1201 sqsfntdttt sgissmsssp sretvgvdat tmdtdcgsms tvvstktikt shyltpqsnh
     1261 lslsksnsvs lvppgsshtl prraqslkap siatikslad cnfsytssrd afgyatlkrl
     1321 qqqrmhpsls hsealaspak dvlftdtitm kansfesrlt psrfmkalsy asldkedlls
     1381 pinqntlqrs ssvrsmvssa tyggsddyig lalpvdindi fqvkdipyfq tknipphddr
     1441 garafahdag glpsgtgglv knsfhllrqq mslteimnsi hsdaslfles tedtglqeht
     1501 ddnclycvci eilgfqpsnq lsaicshsdf qdipysdwce qtihnplevv pskfsgisgc
     1561 sdgvsqegsa sstkstelll gvktipddtp mcrillrkev lrlvinlsss vstkchetgl
     1621 ltikekypqt fddiclysev shllshctfr lpcrrfiqel fqdvqflqmh eeaeavlatp
     1681 pkqpivdtsa es
//
LOCUS       XP_054208292             440 aa            linear   PRI 20-MAR-2023
DEFINITION  gamma-aminobutyric acid receptor subunit pi isoform X1 [Homo
            sapiens].
ACCESSION   XP_054208292
VERSION     XP_054208292.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352317.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..440
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..440
                     /product="gamma-aminobutyric acid receptor subunit pi
                     isoform X1"
                     /calculated_mol_wt=50509
     CDS             1..440
                     /gene="GABRP"
                     /coded_by="XM_054352317.1:446..1768"
                     /db_xref="GeneID:2568"
                     /db_xref="HGNC:HGNC:4089"
                     /db_xref="MIM:602729"
ORIGIN      
        1 mnyslhlafv clslftermc iqgsqfnvev grsdklslpg fenltagynk flrpnfggep
       61 vqialtldia sissisesnm dytatiylrq rwmdqrlvfe gnksftldar lveflwvpdt
      121 yiveskksfl hevtvgnrli rlfsngtvly alritttvac nmdlskypmd tqtcklqles
      181 wgydgndvef twlrgndsvr glehlrlaqy tieryftlvt rsqqetgnyt rlvlqfelrr
      241 nvlyfilety vpstflvvls wvsfwislds vpartcigvt tvlsmttlmi gsrtslpntn
      301 cfikaidvyl gicfsfvfga lleyavahys slqqmaakdr gttkeveevs itniinssis
      361 sfkrkisfas ieissdnvdy sdltmktsdk fkfvfrekmg rivdyftiqn psnvdhyskl
      421 lfplifmlan vfywayymyf
//
LOCUS       XP_054213131             321 aa            linear   PRI 20-MAR-2023
DEFINITION  fas-activated serine/threonine kinase isoform X8 [Homo sapiens].
ACCESSION   XP_054213131
VERSION     XP_054213131.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357156.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..321
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..321
                     /product="fas-activated serine/threonine kinase isoform
                     X8"
                     /calculated_mol_wt=35462
     CDS             1..321
                     /gene="FASTK"
                     /gene_synonym="FAST"
                     /coded_by="XM_054357156.1:44..1009"
                     /db_xref="GeneID:10922"
                     /db_xref="HGNC:HGNC:24676"
                     /db_xref="MIM:606965"
ORIGIN      
        1 mrrprgepgp raprptegat cagpgescfp sdgplvcale qerrlrlppk pppplqpllr
       61 ggqgleaals cprflryprq hlisslaear peeltphvmv llaqhlarhr lrepqlleai
      121 ahflvvqetq lsskvvqklv lpfgrlnylp leqqfmpcle rilareagva platvnilms
      181 lcqlrclpfr alhfvfspgf inyisgtpha livrrylsll dtavelelpg yrgprlprrq
      241 qvpifpqpli tdrarckysh kdivaeglrq llgeekyrqd ltvppgycta tlrgtgvper
      301 papaqelpea eapgpgpalg a
//
LOCUS       XP_054214100             354 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 86 isoform X6 [Homo sapiens].
ACCESSION   XP_054214100
VERSION     XP_054214100.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358125.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..354
                     /product="WD repeat-containing protein 86 isoform X6"
                     /calculated_mol_wt=38155
     CDS             1..354
                     /gene="WDR86"
                     /coded_by="XM_054358125.1:342..1406"
                     /db_xref="GeneID:349136"
                     /db_xref="HGNC:HGNC:28020"
ORIGIN      
        1 msrefrghrn cvltlaysap wdlpstpcae eaaaggllvt gstdgtakvw qvasgcchqt
       61 lrghtgavlc lvldtpghta ftgstdatir awdilsgeql rvfrehrgsv iclerersgg
      121 lqscpscrps llllaagept rvlwqrgqdr qvlagrhrgv cahvhgpqtq rerpqvprgh
      181 lvhgqrgrlr pglrravwra aegvpgphih hqlhpgarpg alhrlarrrp aplgrarapr
      241 cpaapsahaq plaalqqqgg lrrrapaagl iprgpcrrqp rhpaaprapr patrgggarw
      301 pargeergsp ggrrarrrrl vflwwpggag sgsarpgdrp lfpfrvapvl pphp
//
LOCUS       XP_054214342             211 aa            linear   PRI 20-MAR-2023
DEFINITION  platelet-derived growth factor subunit A isoform X7 [Homo sapiens].
ACCESSION   XP_054214342
VERSION     XP_054214342.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358367.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 28% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..211
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..211
                     /product="platelet-derived growth factor subunit A isoform
                     X7"
                     /calculated_mol_wt=23912
     CDS             1..211
                     /gene="PDGFA"
                     /gene_synonym="PDGF-A; PDGF1"
                     /coded_by="XM_054358367.1:335..970"
                     /db_xref="GeneID:5154"
                     /db_xref="HGNC:HGNC:8799"
                     /db_xref="MIM:173430"
ORIGIN      
        1 mrtlacllll gcgylahvla eeaeiprevi erlarsqihs irdlqrllei dsvgsedsld
       61 tslrahgvha tkhvpekrpl pirrkrsiee avpavcktrt viyeiprsqv dptsanfliw
      121 ppcvevkrct gccntssvkc qpsrvhhrsv kvakveyvrk kpklkevqvr leehlecaca
      181 ttslnpdyre edtgrpresg kkrkrkrlkp t
//
LOCUS       XP_054214405             916 aa            linear   PRI 20-MAR-2023
DEFINITION  disintegrin and metalloproteinase domain-containing protein 22
            isoform X14 [Homo sapiens].
ACCESSION   XP_054214405
VERSION     XP_054214405.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358430.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..916
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..916
                     /product="disintegrin and metalloproteinase
                     domain-containing protein 22 isoform X14"
                     /calculated_mol_wt=102265
     CDS             1..916
                     /gene="ADAM22"
                     /gene_synonym="ADAM 22; DEE61; EIEE61; MDC2"
                     /coded_by="XM_054358430.1:216..2966"
                     /db_xref="GeneID:53616"
                     /db_xref="HGNC:HGNC:201"
                     /db_xref="MIM:603709"
ORIGIN      
        1 mqaavavsvp flllcvlgtc pparcgqagd aslmelekrk enrfverqsi vplrliyrsg
       61 gedesrhdal dtrvrgdlgg rqiqmflkse sqktiyqiql thvdqasfqv dafgtsfild
      121 vvlnhdllss eyierhiehg gktvevkgge hcyyqghirg npdsfvalst chglhgmfyd
      181 gnhtyliepe endttqedfh fhsvyksrlf efslddlpse fqqvnitpsk filkprpkrs
      241 krqlrryprn veeetkyiel mivndhlmfk khrlsvvhtn tyaksvvnma dliykdqlkt
      301 rivlvametw atdnkfaise nplitlrefm kyrrdfikek sdavhlfsgs qfessrsgaa
      361 yiggicsllk gggvnefgkt dlmavtlaqs lahnigiisd krklasgeck cedtwsgcim
      421 gdtgyylpkk ftqcnieeyh dflnsgggac lfnkpsklld ppecgngfie tgeecdcgtp
      481 aecvlegaec ckkctltqds qcsdglcckk ckfqpmgtvc reavndcdir etcsgnssqc
      541 apnihkmdgy scdgvqgicf ggrcktrdrq ckyiwgqkvt asdkycyekl niegtekgnc
      601 gkdkdtwiqc nkrdvlcgyl lctnignipr lgeldgeits tlvvqqgrtl ncsgghvkle
      661 edvdlgyved gtpcgpqmmc lehrclpvas fnfstclssk egticsgngv csnelkcvcn
      721 rhwigsdcnt yfphnddakt gitlsgngva gtniiigiia gtilvlalil gitawgykny
      781 reqrsnglsh swseripdtk hisdicengr prsnswqgnl ggnkkkirgk rfrprsnste
      841 ylnpwfkrdy nvakwvedvn kntegpyfrt lspakspsss tgsiassrky pypmpplpde
      901 dkkvnrqsar lwetsi
//
LOCUS       XP_054215595             202 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein with multiple splicing isoform X7 [Homo
            sapiens].
ACCESSION   XP_054215595
VERSION     XP_054215595.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359620.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..202
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..202
                     /product="RNA-binding protein with multiple splicing
                     isoform X7"
                     /calculated_mol_wt=21714
     CDS             1..202
                     /gene="RBPMS"
                     /gene_synonym="HERMES"
                     /coded_by="XM_054359620.1:210..818"
                     /db_xref="GeneID:11030"
                     /db_xref="HGNC:HGNC:19097"
                     /db_xref="MIM:601558"
ORIGIN      
        1 mepafvetvg cpvasqigvl girfdpeipq tlrlefakan tkmaknklvg tpnpstplpn
       61 tvpqfiarep yeltvpalyp sspevwapyp lypaelapal pppaftypas lhaqvssppp
      121 amgalcprpv lshlsqegss nsalclvskw iqmhqamsrg cagslpprll lragspvssa
      181 eyytlqqwll egrtiallwk yg
//
LOCUS       XP_054216654            4520 aa            linear   PRI 20-MAR-2023
DEFINITION  plectin isoform X20 [Homo sapiens].
ACCESSION   XP_054216654
VERSION     XP_054216654.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360679.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4520
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..4520
                     /product="plectin isoform X20"
                     /calculated_mol_wt=513161
     CDS             1..4520
                     /gene="PLEC"
                     /gene_synonym="EBS1; EBS5A; EBS5B; EBS5C; EBS5D; EBSMD;
                     EBSND; EBSO; EBSOG; EBSPA; HD1; LGMD2Q; LGMDR17; PCN;
                     PLEC1; PLEC1b; PLTN"
                     /coded_by="XM_054360679.1:3222..16784"
                     /db_xref="GeneID:5339"
                     /db_xref="HGNC:HGNC:9069"
                     /db_xref="MIM:601282"
ORIGIN      
        1 mdrysmeeli qlgqderdrv qkktftkwvn khlikaqrhi sdlyedlrdg hnlisllevl
       61 sgdslprekg rmrfhklqnv qialdylrhr qvklvnirnd diadgnpklt lgliwtiilh
      121 fqisdiqvsg qsedmtakek lllwsqrmve gyqglrcdnf tsswrdgrlf naiihrhkpl
      181 lidmnkvyrq tnlenldqaf svaerdlgvt rlldpedvdv pqpdeksiit yvsslydamp
      241 rvpdvqdgel qlrwqeyrel vllllqwmrh htaafeerrf pssfeeieil wsqflkfkem
      301 elpakeadkn rskgiyqsle gavqagqlkv ppgyhpldve kewgklhvai lerekqlrse
      361 ferleclqri vtklqmeagl ceeqlnqada llqsdvrlla agkvpqrage verdldkads
      421 mirllfndvq tlkdgrhpqg eqmyrrvyrl herlvairte ynlrlkagva apatqvaqvt
      481 lqsvqrrpel edstlrylqd llawveenqh rvdgaewgvd lpsveaqlgs hrglhqsiee
      541 frakierars degqlspatr gayrdclgrl dlqyakllns skarlrsles lhsfvaaatk
      601 elmwlnekee eevgfdwsdr ntnmtakkes ysalmrelel kekkikelqn agdrllredh
      661 parptvesfq aalqtqwswm lqlcccieah lkenaayfqf fsdvreaegq lqklqealrr
      721 kyscdrsatv trledllqda qdekeqlney kghlsglakr akavvqlkpr hpahpmrgrl
      781 pllavcdykq vevtvhkgde cqlvgpaqps hwkvlsssgs eaavpsvcfl vpppnqeaqe
      841 avtrleaqhq alvtlwhqlh vdmksllawq slrrdvqlir swslatfrtl kpeeqrqalh
      901 slelhyqafl rdsqdaggfg pedrlmaere ygscshhyqq llqsleqgaq eesrcqrcis
      961 elkdirlqle acetrtvhrl rlpldkepar ecaqriaeqq kaqaeveglg kgvarlsaea
     1021 ekvlalpeps paaptlrsel eltlgkleqv rslsaiylek lktislvirg tqgaeevlra
     1081 heeqlkeaqa vpatlpelea tkaslkklra qaeaqqptfd alrdelrgaq evgerlqqrh
     1141 gerdveverw rervaqller wqavlaqtdv rqreleqlgr qlryyresad plgawlqdar
     1201 rrqeqiqamp ladsqavreq lrqeqallee ierhgekvee cqrfakqyin aikdyelqlv
     1261 tykaqlepva spakkpkvqs gsesviqeyv dlrthyselt tltsqyikfi setlrrmeee
     1321 erlaeqqrae ererlaevea alekqrqlae ahaqakaqae reakelqqrm qeevvrreea
     1381 avdaqqqkrs iqeelqqlrq sseaeiqaka rqaeaaersr lrieeeirvv rlqleaterq
     1441 rggaegelqa lraraeeaea qkrqaqeeae rlrrqvqdes qrkrqaevel asrvkaeaea
     1501 arekqralqa leelrlqaee aerrlrqaev erarqvqval etaqrsaeae lqskrasfae
     1561 ktaqlerslq eehvavaqlr eeaerraqqq aeaerareea erelerwqlk anealrlrlq
     1621 aeevaqqksl aqaeaekqke eaerearrrg kaeeqavrqr elaeqelekq rqlaegtaqq
     1681 rlaaeqelir lraeteqgeq qrqlleeela rlqreaaaat qkrqeleael akvraemevl
     1741 laskaraeee srstsekskq rleaeagrfr elaeeaarlr alaeeakrqr qlaeedaarq
     1801 raeaervlae klaaigeatr lkteaeialk ekeaenerlr rlaedeafqr rrleeqaaqh
     1861 kadieerlaq lrkasdsele rqkglvedtl rqrrqveeei lalkasfeka aagkaelele
     1921 lgrirsnaed tlrskeqael eaarqrqlaa eeerrrreae ervqkslaae eeaarqrkaa
     1981 leeverlkak veearrlrer aeqesarqlq laqeaaqkrl qaeekahafa vqqkeqelqq
     2041 tlqqeqsvld qlrgeaeaar raaeeaeear vqaereaaqs rrqveeaerl kqsaeeqaqa
     2101 raqaqaaaek lrkeaeqeaa rraqaeqaal rqkqaadaem ekhkkfaeqt lrqkaqveqe
     2161 lttlrlqlee tdhqknllde elqrlkaeat eaarqrsqve eelfsvrvqm eelsklkari
     2221 eaenralilr dkdntqrflq eeaekmkqva eeaarlsvaa qeaarlrqla eedlaqqral
     2281 aekmlkekmq avqeatrlka eaellqqqke laqeqarrlq edkeqmaqql aeetqgfqrt
     2341 leaerqrqle msaeaerlkl rvaemsraqa raeedaqrfr kqaeeigekl hrtelatqek
     2401 vtlvqtleiq rqqsdhdaer lreaiaeler ekeklqqeak llqlkseemq tvqqeqllqe
     2461 tqalqqsfls ekdsllqrer fieqekakle qlfqdevaka qqlreeqqrq qqqmeqerqr
     2521 lvasmeearr rqheaeegvr rkqeelqqle qqrrqqeell aeenqrlreq lqlleeqhra
     2581 alahseevta sqvaatktlp ngrdaldgpa aeaepehsfd glrrkvsaqr lqeagilsae
     2641 elqrlaqght tvdelarred vrhylqgrss iaglllkatn eklsvyaalq rqllspgtal
     2701 illeaqaasg flldpvrnrr ltvneavkeg vvgpelhhkl lsaeravtgy kdpytgqqis
     2761 lfqamqkgli vrehgirlle aqiatggvid pvhshrvpvd vayrrgyfde emnrvladps
     2821 ddtkgffdpn thenltylql lercvedpet glcllpltdk aakggelvyt dseardvfek
     2881 atvsapfgkf qgktvtiwei inseyftaeq rrdllrqfrt gritvekiik iiitvveeqe
     2941 qkgrlcfegl rslvpaaell esrvidrely qqlqrgersv rdvaevdtvr ralrganvia
     3001 gvwleeagqk lsiynalkkd llpsdmaval leaqagtghi idpatsarlt vdeavraglv
     3061 gpefheklls aekavtgyrd pytgqsvslf qalkkglipr eqglrlldaq lstggivdps
     3121 kshrvpldva cargcldeet sralsaprad akaysdpstg epatygelqq rcrpdqltgl
     3181 sllplsekaa rarqeelyse lqaretfekt pvevpvggfk grtvtvweli sseyftaeqr
     3241 qellrqfrtg kvtvekviki litiveevet lrqerlsfsg lrapvpasel lasgvlsraq
     3301 feqlkdgktt vkdlselgsv rtllqgsgcl agiyledtke kvsiyeamrr gllrattaal
     3361 lleaqaatgf lvdpvrnqrl yvheavkagv vgpelheqll saekavtgyr dpysgstisl
     3421 fqamqkglvl rqhgirllea qiatggiidp vhshrvpvdv ayqrgyfsee mnrvladpsd
     3481 dtkgffdpnt henltyrqll ercvedpetg lrllplkgae kaevvettqv yteeetrraf
     3541 eetqidipgg gshggstmsl wevmqsdlip eeqraqlmad fqagrvtker miiiiieiie
     3601 kteiirqqgl asydyvrrrl taedlfeari isletynllr egtrslreal eaesawcyly
     3661 gtgsvagvyl pgsrqtlsiy qalkkgllsa evarllleaq aatgflldpv kgerltvdea
     3721 vrkglvgpel hdrllsaera vtgyrdpyte qtislfqamk kelipteeal rlldaqlatg
     3781 givdprlgfh lplevayqrg ylnkdthdql sepsevrsyv dpstderlsy tqllrrcrrd
     3841 dgtgqlllpl sdarkltfrg lrkqitmeel vrsqvmdeat alqlreglts ieevtknlqk
     3901 flegtsciag vfvdatkerl svyqamkkgi irpgtafell eaqaatgyvi dpikglkltv
     3961 eeavrmgivg pefkdkllsa eravtgykdp ysgklislfq amkkglilkd hgirlleaqi
     4021 atggiidpee shrlpvevay krglfdeemn eiltdpsddt kgffdpntee nltylqlmer
     4081 citdpqtglc llplkekkre rktsskssvr krrvvivdpe tgkemsvyea yrkglidhqt
     4141 ylelseqece weeitisssd gvvksmiidr rsgrqydidd aiaknlidrs aldqyragtl
     4201 sitefadmls gnaggfrsrs ssvgssssyp ispavsrtql aswsdpteet gpvagildte
     4261 tlekvsitea mhrnlvdnit gqrlleaqac tggiidpstg erfpvtdavn kglvdkimvd
     4321 rinlaqkafc gfedprtktk msaaqalkkg wlyyeagqrf levqyltggl iepdtpgrvp
     4381 ldealqrgtv dartaqklrd vgayskyltc pktklkisyk daldrsmvee gtglrlleaa
     4441 aqstkgyysp ysvsgsgsta gsrtgsrtgs ragsrrgsfd atgsgfsmtf ssssysssgy
     4501 grryasgssa slggpesava
//
LOCUS       XP_054216761             557 aa            linear   PRI 20-MAR-2023
DEFINITION  integrator complex subunit 8 isoform X2 [Homo sapiens].
ACCESSION   XP_054216761
VERSION     XP_054216761.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360786.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..557
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..557
                     /product="integrator complex subunit 8 isoform X2"
                     /calculated_mol_wt=63854
     CDS             1..557
                     /gene="INTS8"
                     /gene_synonym="C8orf52; INT8; NEDCHS"
                     /coded_by="XM_054360786.1:443..2116"
                     /db_xref="GeneID:55656"
                     /db_xref="HGNC:HGNC:26048"
                     /db_xref="MIM:611351"
ORIGIN      
        1 maaflknvcl gledlqyvfm isshelfitl lkdeerkllv dqmrkrsprv nlcikpvtsf
       61 ydipasasvn igqlehqlil svdpwrirqi lielhgmtse rqfwtvsnkw evpsvysgvi
      121 lgikdnltrd lvyilmakgl hcstvkdfsh akqlfaacle lvtefspklr qvmlnemlll
      181 dihtheagtg qagerppsdl isrvrgylem rlpdiplrqv iaeecvafml nwreneyltl
      241 qvpafllqsn pyvklgqlla atckelpgpk esrrtakdlw evvvqicsvs sqhkrgndgr
      301 vslikqrest lgimyrsell sfikklrepl vltiilslfv klhnvrediv nditaehisi
      361 wpssipnlqs vdfeavaitv kelvrytlsi npnnhswlii qadiyfatnq ysaalhyylq
      421 agavcsdffn kavppdvytd qvikrmikcc sllnchtqva ilcqflreid yktafkslqe
      481 qnshdamdsy ydyiwdvtil eyltylhhkr getdkrqiai kaigqtelna snpeevlqla
      541 aqrrkkkflq amaklyf
//
LOCUS       XP_054217260             609 aa            linear   PRI 20-MAR-2023
DEFINITION  grainyhead-like protein 2 homolog isoform X1 [Homo sapiens].
ACCESSION   XP_054217260
VERSION     XP_054217260.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361285.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..609
                     /product="grainyhead-like protein 2 homolog isoform X1"
                     /calculated_mol_wt=69191
     CDS             1..609
                     /gene="GRHL2"
                     /gene_synonym="BOM; DFNA28; ECTDS; PPCD4; TFCP2L3"
                     /coded_by="XM_054361285.1:315..2144"
                     /db_xref="GeneID:79977"
                     /db_xref="HGNC:HGNC:2799"
                     /db_xref="MIM:608576"
ORIGIN      
        1 mpsdppfntr raytsedeaw ksylenplta atkammsing dedsaaalgl lydyykvprd
       61 krllsvskas dsqedqekrn clgtseaqsn lsggenrvqv lktvpvnlsl nqdhlenskr
      121 eqysisfpes saiipvsgit vvkaedftpv fmappvhypr gdgeeqrvvi feqtqydvps
      181 lathsaylkd dqrstpdsty sesfkdaate kfrsasvgae eymydqtssg tfqytleatk
      241 slrqkqgegp mtylnkgqfy aitlsetgdn kcfrhpiskv rsvvmvvfse dknrdeqlky
      301 wkywhsrqht akqrvldiad ykesfntign ieeiaynavs ftwdvneeak ifitvnclst
      361 dfssqkgvkg lplmiqidty synnrsnkpi hraycqikvf cdkgaerkir deerkqnrkk
      421 gkgqasqtqc nsssdgklaa iplqkksdit yfktmpdlhs qpvlfipdvh fanlqrtgqv
      481 yyntddereg gsvlvkrmfr pmeeefgpvp skqmkeegtk rvllyvrket ddvfdalmlk
      541 sptvkglmea isekyglpve kiaklykksk kgilvnmddn iiehysnedt filnmesmve
      601 gfkvtlmei
//
LOCUS       XP_054217391             567 aa            linear   PRI 20-MAR-2023
DEFINITION  protein CBFA2T1 isoform X2 [Homo sapiens].
ACCESSION   XP_054217391
VERSION     XP_054217391.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361416.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..567
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..567
                     /product="protein CBFA2T1 isoform X2"
                     /calculated_mol_wt=63082
     CDS             1..567
                     /gene="RUNX1T1"
                     /gene_synonym="AML1-MTG8; AML1T1; CBFA2T1; CDR; ETO; MTG8;
                     ZMYND2"
                     /coded_by="XM_054361416.1:133..1836"
                     /db_xref="GeneID:862"
                     /db_xref="HGNC:HGNC:1535"
                     /db_xref="MIM:133435"
ORIGIN      
        1 mpdspvdvkt qsrltpptmp pppttqgapr tssftpttlt ngtshsptal ngapsppngf
       61 sngpssssss slanqqlppa cgarqlsklk rflttlqqfg ndispeiger vrtlvlglvn
      121 stltieefhs klqeatnfpl rpfvipflka nlpllqrell hcarlakqnp aqylaqheql
      181 lldasttspv dssellldvn engkrrtpdr tkengfdrep lhsehpskrp ctispgqrys
      241 pnnglsyqpn glphptpppp qhyrlddmai ahhyrdsyrh pshrdlrdrn rpmglhgtrq
      301 eemidhrltd rewaeewkhl dhllncimdm vektrrsltv lrrcqeadre elnywirrys
      361 daedlkkggg sssshsrqqs pvnpdpvald ahreflhrpa sgyvpeeiwk kaeeavnevk
      421 rqamtelqka vseaerkahd mitterakme rtvaeakrqa aedalavinq qedssescwn
      481 cgrkasetcs gcntarycgs fcqhkdwekh hhicgqtlqa qqqgdtpavs ssvtpnsgag
      541 spmdtppaat prsttpgtps tiettpr
//
LOCUS       XP_054219118            1054 aa            linear   PRI 20-MAR-2023
DEFINITION  centlein isoform X9 [Homo sapiens].
ACCESSION   XP_054219118
VERSION     XP_054219118.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363143.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1054
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1054
                     /product="centlein isoform X9"
                     /calculated_mol_wt=121065
     CDS             1..1054
                     /gene="CNTLN"
                     /gene_synonym="bA340N12.1; C9orf101; C9orf39"
                     /coded_by="XM_054363143.1:27..3191"
                     /db_xref="GeneID:54875"
                     /db_xref="HGNC:HGNC:23432"
                     /db_xref="MIM:611870"
ORIGIN      
        1 maarsppsph pspparqlgp rsprvgrgae vhamrseasg fagaarevva desdkiwvge
       61 egsggrrgpg gaapahapll sapmgsrrle gisveeamvt rtqlleeels slkeelalcq
      121 adkefvwslw krlqvtnpdl tqvvslvver ekqkseakdr kvleilqvkd akiqefeqre
      181 svlkqeindl vkrkiavdee naflrkefsd lekkfkdksq eikdtkecvq nkeeqnrlvi
      241 knleeenkkl strctdllnd leklrkqeah lrkekystda kiktfednli earkevevsq
      301 skynalslql snkqteliqk dmditlvrke lqelqnlykq nsthtaqqae liqqlqvlnm
      361 dtqkvlrnqe dvhtaesisy qklynelhic fettksneam lrqsvtnlqd qllqkeqena
      421 klkeklqesq gaplplpqes dpdysaqvph rpslssletl mvsqkseiey lqeklkiane
      481 klsenisank gfsrksimts aegkhkeppv krsrslspks sftdseelqk lrkaerkien
      541 lekalqlksq endelrdahe krkerlqmlq tnyravkeql kqweegsgmt eirkikradp
      601 qqlrqedsda vwnelayfkr enqelmiqkm nleeeldelk vhisidkaai qelnrcvaer
      661 reeqlfrsge ddevkrstpe kngkemleqt lqkvielenr lksfekrsrk lkegnkklmk
      721 endflksllk qqqedtetre keleqiikgs kdvekentel qvkiselete vtslrrqvae
      781 analrnenee linpmekshq sadraksema tmkvrsgryd ckttmtkvkf kaakkncsvg
      841 rhhtvlnhsi kvmsnvfenl skdgwedvse sssdseaqts qtlgtiivet sqkisptedg
      901 kdqkesdpte dsqtqgkeiv qtylnidgkt pkdyfhdkna kkptfqkknc kmqksshtav
      961 ptrvnrekyk nitaqksssn iillreriis lqqqnsvlqn akktaelsvk eykevnekll
     1021 hqqqvsdqrf qtsrqtikdt trhlasasqe aicc
//
LOCUS       XP_054219918             322 aa            linear   PRI 20-MAR-2023
DEFINITION  FSD1-like protein isoform X10 [Homo sapiens].
ACCESSION   XP_054219918
VERSION     XP_054219918.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363943.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..322
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..322
                     /product="FSD1-like protein isoform X10"
                     /calculated_mol_wt=35667
     CDS             1..322
                     /gene="FSD1L"
                     /gene_synonym="CCDC10; CSDUFD1; FSD1CL; FSD1NL; MIR1"
                     /coded_by="XM_054363943.1:1926..2894"
                     /db_xref="GeneID:83856"
                     /db_xref="HGNC:HGNC:13753"
                     /db_xref="MIM:609829"
ORIGIN      
        1 mpeednkidh filehrktnf dglprvkder cweiidnikg teytlsglkf dskymnfrvr
       61 acnkavagey sdpvtletka lnfnldnsss hlnlkvedtc vewdptggkg qeskikgken
      121 kgsvhvtslk khtrsgtpsp krtsvgsrpp avrgsrdrft gesytvlgdt aiesgqhywe
      181 vkaqkdcksy svgvayktlg kfdqlgktnt swcihvnnwl qntfaakhnn kvkaldvtvp
      241 ekigvfcdfd ggqlsfydan skqllysfkt kftqpvlpgf mvwcgglsls tgmqvpsavr
      301 tlqksengmt gsasslnnvv tq
//
LOCUS       XP_054220103            2000 aa            linear   PRI 20-MAR-2023
DEFINITION  multiple PDZ domain protein isoform X8 [Homo sapiens].
ACCESSION   XP_054220103
VERSION     XP_054220103.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364128.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2000
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2000
                     /product="multiple PDZ domain protein isoform X8"
                     /calculated_mol_wt=213682
     CDS             1..2000
                     /gene="MPDZ"
                     /gene_synonym="HYC2; MUPP1"
                     /coded_by="XM_054364128.1:290..6292"
                     /db_xref="GeneID:8777"
                     /db_xref="HGNC:HGNC:7208"
                     /db_xref="MIM:603785"
ORIGIN      
        1 mleaidknra lhaaerlqtk lrergdvane dklsllksvl qsplfsqils lqtsvqqlkd
       61 qvniatsats nieyahvphl spaviptlqn esfllspnng nlealtgpgi phingkpacd
      121 efdqliknma qgrhvevfel lkppsgglgf svvglrsenr gelgifvqei qegsvahrdg
      181 rlketdqila ingqaldqti thqqaisilq kakdtvqlvi argslpqlvs pivsrspsaa
      241 stisahsnpv hwqhmetiel vndgsglgfg iiggkatgvi vktilpggva dqhgrlcsgd
      301 hilkigdtdl agmsseqvaq vlrqcgnrvk lmiargaiee rtaptalgit lsssptstpe
      361 lrvdastqkg eesetfdvel tknvqglgit iagyigdkkl epsgifvksi tkssavehdg
      421 riqigdqiia vdgtnlqgft nqqavevlrh tgqtvlltlm rrgmkqeael msredvtkda
      481 dlspvnasii kenyekdedf lsstrntnil pteeegypll saeieeieda qkqeaalltk
      541 wqrimginye ivvahvskfs ensglgisle atvghhfirs vlpegpvghs gklfsgdell
      601 evngitllge nhqdvvnilk elpievtmvc crrtvppttq seldsldlcd ieltekphvd
      661 lgefigsset edpvlamtda gqsteevqap lamweagiqh ielekgskgl gfsildyqdp
      721 idpastviii rslvpggiae kdgrllpgdr lmfvndvnle nssleeavea lkgapsgtvr
      781 igvakplpls peegyvsake dsflypphsc eeagladkpl fradlalvgt ndadlvdest
      841 fespyspend siystqasil slhgsscgdg lnygsslpss ppkdviensc dpvldlhmsl
      901 eelytqnllq rqdentpsvd ismgpasgft indytpanai eqqyecenti vwteshlpse
      961 vissaelpsv lpdsagkgse ylleqsslac naecvmlqnv skesfertin iakgnsslgm
     1021 tvsankdglg mivrsiihgg aisrdgriai gdcilsinee stisvtnaqa ramlrrhsli
     1081 gpdikityvp aehleefkis lgqqsgrvma ldifssytgr dipelperee gegeeselqn
     1141 taysnwnqpr rvelwrepsk slgisivggr gmgsrlsnge vmrgifikhv ledspagkng
     1201 tlkpgdrive apsqsesepe kaplcsvppp ppsafaemgs dhtqssaski sqdvdkedef
     1261 gyswknirer ygtltgelhm ielekghsgl glslagnkdr srmsvfivgi dpngaagkdg
     1321 rlqiadelle ingqilygrs hqnassiikc apskvkiifi rnkdavnqma vcpgnavepl
     1381 psnsenlqnk eteptvttsd aavdlssfkn vqhlelpkdq gglgiaisee dtlsgviiks
     1441 ltehgvaatd grlkvgdqil avddeivvgy piekfisllk takmtvklti haenpdsqav
     1501 psaagaasge kknssqslmv pqsgspepes irntsrsstp aifasdpatc piipgcetti
     1561 eiskgrtglg lsivggsdtl lgaiiihevy eegaackdgr lwagdqilev ngidlrkath
     1621 deainvlrqt pqrvrltlyr deapykeeev cdtltielqk kpgkglglsi vgkrndtgvf
     1681 vsdivkggia dadgrlmqgd qilmvngedv rnatqeavaa llkcslgtvt levgrikagp
     1741 fhserrpsqs sqvsegslss ftfplsgsst seslessskk nalaseiqgl rtvemkkgpt
     1801 dslgisiagg vgsplgdvpi fiammhptgv aaqtqklrvg drivticgts tegmthtqav
     1861 nllknasgsi emqvvaggdv svvtghqqep assslsftgl tsssifqddl gppqcksitl
     1921 ergpdglgfs ivggygsphg dlpiyvktvf akgaasedgr lkrgdqiiav ngqslegvth
     1981 eeavailkrt kgtvtlmvls
//
LOCUS       XP_054182554             262 aa            linear   PRI 20-MAR-2023
DEFINITION  PABIR family member 1 isoform X4 [Homo sapiens].
ACCESSION   XP_054182554
VERSION     XP_054182554.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326579.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..262
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..262
                     /product="PABIR family member 1 isoform X4"
                     /calculated_mol_wt=29653
     CDS             1..262
                     /gene="PABIR3"
                     /gene_synonym="FAM122C"
                     /coded_by="XM_054326579.1:186..974"
                     /db_xref="GeneID:159091"
                     /db_xref="HGNC:HGNC:25202"
ORIGIN      
        1 mayfpgtgrt dqetqldlsl cgrepeslen lfldpdmaqe kmklgfkslp ssttadgnil
       61 rrvnsaplin glgfnsqvlq admlrirtnr ttfrnrrsll lppppfhgsi srlhqikqee
      121 amdlinretm sewklqseiq ishsweeglk lndnglqkss slkcidltpv ssmassikkt
      181 gkvkwhfnin qkrfskaqpt cfllilpncq kimciyfqll lmettamldl lvirqlksal
      241 sqtllchlli lvlicssrqt fn
//
LOCUS       XP_054183376             690 aa            linear   PRI 20-MAR-2023
DEFINITION  NF-kappa-B-repressing factor isoform X2 [Homo sapiens].
ACCESSION   XP_054183376
VERSION     XP_054183376.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327401.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..690
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..690
                     /product="NF-kappa-B-repressing factor isoform X2"
                     /calculated_mol_wt=77542
     CDS             1..690
                     /gene="NKRF"
                     /gene_synonym="ITBA4; NRF"
                     /coded_by="XM_054327401.1:73..2145"
                     /db_xref="GeneID:55922"
                     /db_xref="HGNC:HGNC:19374"
                     /db_xref="MIM:300440"
ORIGIN      
        1 mekilqmaeg idigempsyd lvlskpskgq krhlstcdgq nppkkqagsk fharprfepv
       61 hfvassskde rqedpygpqt kevneqthfa smprdiyqdy tqdsfsiqdg nsqycdssgf
      121 iltkdqpvta nmyfdsgnpa psttsqqans qstpepspsq tfpesvvaek qyfiekltat
      181 iwknlsnpem tsgsdkinyt ymltrciqac ktnpeyiyap lkeippadip knkklltdgy
      241 acevrcqniy lttgyagskn gsrdratela vkllqkriev rvvrrkfkht fgedlvvcqi
      301 gmssyefppa lkppedlvvl gkdasgqpif nasakhwtnf vitenandai gilnnsasfn
      361 kmsieykyem mpnrtwrcrv flqdhclaeg ygtkktskha aadealkilq ktqptypsvk
      421 ssqchtgssp rgsgkkkdik dlvvyenssn pvctlndtaq fnrmtveyvy ermtglrwkc
      481 kvilesevia eavgvkktvk yeaageavkt lkktqptvin nlkkgavedv isrneiqgrs
      541 aeeaykqqik ednignqllr kmgwtggglg ksgegirepi svkeqhkreg lgldvervnk
      601 iakrdieqii rnyarsesht dltfsreltn derkqihqia qkyglksksh gvghdrylvv
      661 grkrrkedll dqlkqegqvg hyelvmpqan
//
LOCUS       XP_054183608            1872 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription initiation factor TFIID subunit 1 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054183608
VERSION     XP_054183608.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327633.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1872
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1872
                     /product="transcription initiation factor TFIID subunit 1
                     isoform X6"
                     /calculated_mol_wt=212571
     CDS             1..1872
                     /gene="TAF1"
                     /gene_synonym="BA2R; CCG1; CCGS; DYT3; DYT3/TAF1; KAT4;
                     MRXS33; N-TAF1; NSCL2; OF; P250; TAF(II)250; TAF2A;
                     TAFII-250; TAFII250; XDP"
                     /coded_by="XM_054327633.1:19..5637"
                     /db_xref="GeneID:6872"
                     /db_xref="HGNC:HGNC:11535"
                     /db_xref="MIM:313650"
ORIGIN      
        1 msdtdsdeds agggpfslag flfgningag qlegesvldd eckkhlaglg alglgslite
       61 ltaneeltgt dgalvndegw vrstedavdy sdinevaede srryqqtmgs lqplchsdyd
      121 eddydadced idcklmpppp pppgpmkkdk dqdsitgvse ngegiilpsi iapsslasek
      181 vdfssssdse semgpqeatq aesedgkltl plagimqhda tkllpsvtel fpefrpgkvl
      241 rflrlfgpgk nvpsvwrsar rkrkkkhrel iqeeqiqeve csvesevsqk slwnydyapp
      301 pppeqclsdd eitmmapves kfsqstgdid kvtdtkprva ewrygparlw ydmlgvpedg
      361 sgfdygfklr ktehepviks rmieefrkle enngtdllad enflmvtqlh weddiiwdge
      421 dvkhkgtkpq raslagwlps smtrnamayn vqqgfaatld ddkpwysifp idnedlvygr
      481 wedniiwdaq amprlleppv ltldpndenl ileipdekee atsnspskes kkesslkksr
      541 illgktgvik eepqqnmsqp evkdpwnlsn deyyypkqqg lrgtfggnii qhsipavelr
      601 qpffpthmgp iklrqfhrpp lkkysfgals qpgphsvqpl lkhikkkakm reqerqasgg
      661 gemffmrtpq dltgkdgdli laeyseengp lmmqvgmatk iknyykrkpg kdpgapdcky
      721 getvychtsp flgslhpgql lqafennlfr apiylhkmpe tdfliirtrq gyyirelvdi
      781 fvvgqqcplf evpgpnskra nthirdflqv fiyrlfwksk drprrirmed ikkafpshse
      841 ssirkrlklc adfkrtgmds nwwvlksdfr lpteeeiram vspeqccayy smiaaeqrlk
      901 dagygeksff apeeeneedf qmkiddevrt apwnttrafi aamkgkclle vtgvadptgc
      961 gegfsyvkip nkptqqkddk epqpvkktvt gtdadlrrls lknakqllrk fgvpeeeikk
     1021 lsrwevidvv rtmsteqars gegpmskfar gsrfsvaehq erykeecqri fdlqnkvlss
     1081 tevlstdtds ssaedsdfee mgknienmlq nkktssqlsr ereeqerkel qrmllagsaa
     1141 sgnnhrdddt asvtslnssa tgrclkiyrt frdeegkeyv rcetvrkpav idayvrirtt
     1201 kdeefirkfa lfdeqhreem rkerrriqeq lrrlkrnqek eklkgppekk pkkmkerpdl
     1261 klkcgacgai ghmrtnkfcp lyyqtnapps npvamteeqe eelektvihn dneelikveg
     1321 tkivlgkqli esadevrrks lvlkfpkqql ppkkkrrvgt tvhcdylnrp hksihrrrtd
     1381 pmvtlssile siindmrdlp ntypfhtpvn akvvkdyyki itrpmdlqtl renvrkrlyp
     1441 sreefrehle livknsatyn gpkhsltqis qsmldlcdek lkekedklar lekainplld
     1501 dddqvafsfi ldnivtqkmm avpdswpfhh pvnkkfvpdy ykvivnpmdl etirkniskh
     1561 kyqsresfld dvnlilansv kyngpesqyt ktaqeivnvc yqtlteydeh ltqlekdict
     1621 akeaaleeae lesldpmtpg pytpqppdly dtntslsmsr dasvfqdesn msvldipsat
     1681 pekqvtqege dgdgdladee egtvqqpqas vlyedllmse geddeedags deegdnpfsa
     1741 iqlsesgsds dvgsggirpk qprmlqentr mdmeneesmm syegdggeas hgledsnisy
     1801 gsyeepdpks ntqdtsfssi ggyevseeee deeeeeqrsg psvlsqvhls edeedsedfh
     1861 siagdsdlds de
//
LOCUS       NP_001356830            1575 aa            linear   PRI 22-MAR-2023
DEFINITION  GATOR complex protein DEPDC5 isoform 8 [Homo sapiens].
ACCESSION   NP_001356830
VERSION     NP_001356830.1
DBSOURCE    REFSEQ: accession NM_001369901.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1575)
  AUTHORS   Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S,
            Ellard S, Lynch S, Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero
            IL, Vatevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben
            Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A,
            Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T,
            Kaliakatsos M, Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya
            SM and Hurst JA.
  CONSRTM   Genomics England Research Consortium; Ponnudas (Prab) Prabhakar
  TITLE     Germline homozygous missense DEPDC5 variants cause severe
            refractory early-onset epilepsy, macrocephaly and bilateral
            polymicrogyria
  JOURNAL   Hum Mol Genet 32 (4), 580-594 (2023)
   PUBMED   36067010
  REMARK    GeneRIF: Germline homozygous missense DEPDC5 variants cause severe
            refractory early-onset epilepsy, macrocephaly and bilateral
            polymicrogyria.
REFERENCE   2  (residues 1 to 1575)
  AUTHORS   Farhan HM, Abougabal K, Gaber HF and Attia D.
  TITLE     Disheveled EGL-10 and pleckstrin domain-containing 5 rs1012068 T/G
            gene polymorphism among Egyptian chronic HCV-infected patients:
            disease progression and related complications
  JOURNAL   Egypt J Immunol 29 (3), 36-43 (2022)
   PUBMED   35758967
  REMARK    GeneRIF: Disheveled EGL-10 and pleckstrin domain-containing 5
            rs1012068 T/G gene polymorphism among Egyptian chronic HCV-infected
            patients: disease progression and related complications.
REFERENCE   3  (residues 1 to 1575)
  AUTHORS   Samanta D.
  TITLE     DEPDC5-related epilepsy: A comprehensive review
  JOURNAL   Epilepsy Behav 130, 108678 (2022)
   PUBMED   35429726
  REMARK    GeneRIF: DEPDC5-related epilepsy: A comprehensive review.
            Review article
REFERENCE   4  (residues 1 to 1575)
  AUTHORS   Ishida S, Picard F, Rudolf G, Noe E, Achaz G, Thomas P, Genton P,
            Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E,
            Leguern E and Baulac S.
  TITLE     Mutations of DEPDC5 cause autosomal dominant focal epilepsies
  JOURNAL   Nat Genet 45 (5), 552-555 (2013)
   PUBMED   23542701
  REMARK    GeneRIF: Mutations in DEPDC5 cause familial focal epilepsy with
            variable foci.
REFERENCE   5  (residues 1 to 1575)
  AUTHORS   Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL,
            Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM,
            Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM,
            Weller CM, Crimmins D, O'Brien TJ, Guerrero-Lopez R, Mulley JC,
            Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J,
            Serratosa J, Brouwer OF, Andermann F, Andermann E, van den
            Maagdenberg AM, Pandolfo M, Berkovic SF and Scheffer IE.
  TITLE     Mutations in DEPDC5 cause familial focal epilepsy with variable
            foci
  JOURNAL   Nat Genet 45 (5), 546-551 (2013)
   PUBMED   23542697
  REMARK    GeneRIF: Mutations in DEPDC5 cause familial focal epilepsy with
            variable foci.
REFERENCE   6  (residues 1 to 1575)
  AUTHORS   Miki D, Ochi H, Hayes CN, Abe H, Yoshima T, Aikata H, Ikeda K,
            Kumada H, Toyota J, Morizono T, Tsunoda T, Kubo M, Nakamura Y,
            Kamatani N and Chayama K.
  TITLE     Variation in the DEPDC5 locus is associated with progression to
            hepatocellular carcinoma in chronic hepatitis C virus carriers
  JOURNAL   Nat Genet 43 (8), 797-800 (2011)
   PUBMED   21725309
  REMARK    GeneRIF: Variation in the DEPDC5 locus is associated with
            progression to hepatocellular carcinoma in chronic hepatitis C
            virus carriers.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 1575)
  AUTHORS   Seng TJ, Ichimura K, Liu L, Tingby O, Pearson DM and Collins VP.
  TITLE     Complex chromosome 22 rearrangements in astrocytic tumors
            identified using microsatellite and chromosome 22 tile path array
            analysis
  JOURNAL   Genes Chromosomes Cancer 43 (2), 181-193 (2005)
   PUBMED   15770670
REFERENCE   8  (residues 1 to 1575)
  AUTHORS   Xiong L, Labuda M, Li DS, Hudson TJ, Desbiens R, Patry G, Verret S,
            Langevin P, Mercho S, Seni MH, Scheffer I, Dubeau F, Berkovic SF,
            Andermann F, Andermann E and Pandolfo M.
  TITLE     Mapping of a gene determining familial partial epilepsy with
            variable foci to chromosome 22q11-q12
  JOURNAL   Am J Hum Genet 65 (6), 1698-1710 (1999)
   PUBMED   10577924
REFERENCE   9  (residues 1 to 1575)
  AUTHORS   Baulac,S. and Baldassari,S.
  TITLE     DEPDC5-Related Epilepsy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27683934
REFERENCE   10 (residues 1 to 1575)
  AUTHORS   Kurahashi,H. and Hirose,S.
  TITLE     Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301348
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005004.3, AL022331.1,
            Z82190.1 and Z83856.2.
            
            Summary: This gene encodes a member of the IML1 family of proteins
            involved in G-protein signaling pathways. The mechanistic target of
            rapamycin complex 1 (mTORC1) pathway regulates cell growth by
            sensing the availability of nutrients. The protein encoded by this
            gene is a component of the GATOR1 (GAP activity toward Rags)
            complex which inhibits the amino acid-sensing branch of the mTORC1
            pathway. Mutations in this gene are associated with autosomal
            dominant familial focal epilepsy with variable foci. A single
            nucleotide polymorphism in an intron of this gene has been
            associated with an increased risk of hepatocellular carcinoma in
            individuals with chronic hepatitis C virus infection. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Mar 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1575
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2-q12.3"
     Protein         1..1575
                     /product="GATOR complex protein DEPDC5 isoform 8"
                     /note="DEP domain-containing protein 5; GATOR complex
                     protein DEPDC5"
                     /calculated_mol_wt=177811
     Region          94..353
                     /region_name="IML1"
                     /note="Vacuolar membrane-associated protein Iml1;
                     pfam12257"
                     /db_xref="CDD:432432"
     Region          399..422
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75140.2)"
     Region          456..499
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75140.2)"
     Site            477
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75140.2)"
     Region          668..692
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75140.2)"
     Region          1107..1137
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75140.2)"
     Region          1151..1232
                     /region_name="DEP_DEPDC5-like"
                     /note="DEP (Dishevelled, Egl-10, and Pleckstrin) domain
                     found in DEPDC5-like proteins. DEPDC5, in human also known
                     as KIAA0645, is a DEP domain containing protein of unknown
                     function; cd04449"
                     /db_xref="CDD:239896"
     Region          1250..1557
                     /region_name="DEPDC5_CTD"
                     /note="DEPDC5 protein C-terminal region; pfam19418"
                     /db_xref="CDD:437250"
     CDS             1..1575
                     /gene="DEPDC5"
                     /gene_synonym="DEP.5; FFEVF; FFEVF1; FPEVF"
                     /coded_by="NM_001369901.1:203..4930"
                     /note="isoform 8 is encoded by transcript variant 16"
                     /db_xref="CCDS:CCDS93151.1"
                     /db_xref="GeneID:9681"
                     /db_xref="HGNC:HGNC:18423"
                     /db_xref="MIM:614191"
ORIGIN      
        1 mrttkvyklv ihkkgfggsd delvvnpkvf phiklgdive iahpndeysp lllqvkslke
       61 dlqketisvd qtvtqvfrlr pyqdvyvnvv dpkvstcayi tqkvefagir aqagelwvkn
      121 ekvmcgyise dtrvvfrsts amvyifiqms cemwdfdiyg dlyfekavng fladlftkwk
      181 ekncshevtv vlfsrtfyda ksvdefpein rasirqdhkg rfyedfykvv vqnerreewt
      241 sllvtikklf iqypvlvrle qaegfpqgdn stsaqgnyle ainlsfnvfd khyinrnfdr
      301 tgqmsvvitp gvgvfevdrl lmiltkqrmi dngigvdlvc mgeqplhavp lfklhnrsap
      361 rdsrlgddyn iphwinhsfy tsksqlfcns ftpriklagk kpasekakng rdtslgspke
      421 senalpiqvd ydaydaqvfr lpgpsraqcl ttcrsvrere shsrksassc dvssspslps
      481 rtlpteevrs qasddsslgk sanilmiphp hlhqyevsss lgytstrdvl enmmeppqrd
      541 ssapgrfhvg saesmlhvrp ggytpqrali npfapsrmpm kltsnrrrwm htfpvgpsge
      601 aiqihhqtrq nmaelqgsgq rdpthssael lelayheaag rhsnsrqpgd gmsflnfsgt
      661 eelsvgllsn sgagmnprtq nkdsledsvs tspdpiltls appvvpgfcc tvgvdwkslt
      721 tpaclplttd yfpdrqglqn dytegcydll peadidrrde dgvqmtaqqv feeficqrlm
      781 qgyqiivqpk tqkpnpavpp plsssplysr glvsrnrpee edqywlsmgr tfhkvtlkdk
      841 mitvtrylpk ypyesaqihy tyslcpshsd sefvscwvef sherleeykw nyldqyicsa
      901 gsedfslies lkfwrtrfll lpacvtatkr itegeahcdi ygdrpraded ewqlldgfvr
      961 fveglnrirr rhrsdrmmrk gtamkglqmt gpisthsles tappvgkkgt salsalleme
     1021 asqkclgeqq aavhggkssa qsaesssvam tptymdsprk dgaffmefvr sprtassafy
     1081 pqvsvdqtat pmldgtslgi ctgqsmdrgn sqtfgnsqni geqgysstns sdsssqqlva
     1141 ssltssstlt eileamkhps tgvqllseqk glspycfisa evvhwlvnhv egiqtqamai
     1201 dimqkmleeq lithasgeaw rtfiygfyfy kivtdkepdr vamqqpattw htagvddfas
     1261 fqrkwfevaf vaeelvhsei pafllpwlps rpasyasrhs sfsrsfggrs qaaallaatv
     1321 peqrtvtldv dvnnrtdrle wcscyyhgnf slnaafeikl hwmavtaavl femvqgwhrk
     1381 atscgfllvp vlegpfalps ylygdplraq lfiplniscl lkegsehlfd sfepetywdr
     1441 mhlfqeaiah rfgfvqdkys asafnfpaen kpqyihvtgt vflqlpyskr kfsgqqrrrr
     1501 nstsstnqnm fceervgynw ayntmltktw rssatgdekf adrllkdftd fcinrdnrlv
     1561 tfwtsclekm hasap
//
LOCUS       NP_005565                227 aa            linear   PRI 22-MAR-2023
DEFINITION  rhombotin-2 isoform 1 [Homo sapiens].
ACCESSION   NP_005565
VERSION     NP_005565.2
DBSOURCE    REFSEQ: accession NM_005574.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 227)
  AUTHORS   Wang H, Wang J, Li R and Zhu Z.
  TITLE     Potential link of single nucleotide polymorphisms within LMO2 to
            the risk of cervical squamous-cell carcinoma in Chinese populations
  JOURNAL   Asian J Surg 46 (2), 1139-1141 (2023)
   PUBMED   35999096
  REMARK    GeneRIF: Potential link of single nucleotide polymorphisms within
            LMO2 to the risk of cervical squamous-cell carcinoma in Chinese
            populations.
REFERENCE   2  (residues 1 to 227)
  AUTHORS   Pan X, Liu D, Ying M, Zheng G, Fan C, Pan F and Ke Q.
  TITLE     PAK5 is a potential target in myelodysplastic syndrome through
            interacting with LMO2 and GATA1
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 68 (9), 77-85 (2022)
   PUBMED   36905268
  REMARK    GeneRIF: PAK5 is a potential target in myelodysplastic syndrome
            through interacting with LMO2 and GATA1.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 227)
  AUTHORS   Latchmansingh KA, Wang X, Verdun RE, Marques-Piubelli ML, Vega F,
            You MJ, Chapman J and Lossos IS.
  TITLE     LMO2 expression is frequent in T-lymphoblastic leukemia and
            correlates with survival, regardless of T-cell stage
  JOURNAL   Mod Pathol 35 (9), 1220-1226 (2022)
   PUBMED   35322192
  REMARK    GeneRIF: LMO2 expression is frequent in T-lymphoblastic leukemia
            and correlates with survival, regardless of T-cell stage.
REFERENCE   4  (residues 1 to 227)
  AUTHORS   Chen Y, Meng Y, Yu Y, Li W, Shen Y, Li S, Chang Y and Sun W.
  TITLE     LMO2 plays differential roles in trophoblast subtypes and is
            associated with preeclampsia
  JOURNAL   Biochem Biophys Res Commun 604, 43-50 (2022)
   PUBMED   35286869
  REMARK    GeneRIF: LMO2 plays differential roles in trophoblast subtypes and
            is associated with preeclampsia.
REFERENCE   5  (residues 1 to 227)
  AUTHORS   Sheng D, Zhang Y, Xue T, Zhou XY and Li XQ.
  TITLE     Identification of LMO2 as a new marker for acinic cell carcinoma of
            salivary gland
  JOURNAL   Diagn Pathol 17 (1), 15 (2022)
   PUBMED   35094691
  REMARK    GeneRIF: Identification of LMO2 as a new marker for acinic cell
            carcinoma of salivary gland.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 227)
  AUTHORS   Dong WF, Xu Y, Hu QL, Munroe D, Minowada J, Housman DE and Minden
            MD.
  TITLE     Molecular characterization of a chromosome translocation breakpoint
            t(11;14)(p13;q11) from the cell line KOPT-K1
  JOURNAL   Leukemia 9 (11), 1812-1817 (1995)
   PUBMED   7475267
REFERENCE   7  (residues 1 to 227)
  AUTHORS   Osada H, Grutz G, Axelson H, Forster A and Rabbitts TH.
  TITLE     Association of erythroid transcription factors: complexes involving
            the LIM protein RBTN2 and the zinc-finger protein GATA1
  JOURNAL   Proc Natl Acad Sci U S A 92 (21), 9585-9589 (1995)
   PUBMED   7568177
REFERENCE   8  (residues 1 to 227)
  AUTHORS   Royer-Pokora B, Loos U and Ludwig WD.
  TITLE     TTG-2, a new gene encoding a cysteine-rich protein with the LIM
            motif, is overexpressed in acute T-cell leukaemia with the
            t(11;14)(p13;q11)
  JOURNAL   Oncogene 6 (10), 1887-1893 (1991)
   PUBMED   1923511
REFERENCE   9  (residues 1 to 227)
  AUTHORS   Boehm T, Foroni L, Kaneko Y, Perutz MF and Rabbitts TH.
  TITLE     The rhombotin family of cysteine-rich LIM-domain oncogenes:
            distinct members are involved in T-cell translocations to human
            chromosomes 11p15 and 11p13
  JOURNAL   Proc Natl Acad Sci U S A 88 (10), 4367-4371 (1991)
   PUBMED   2034676
REFERENCE   10 (residues 1 to 227)
  AUTHORS   Boehm T, Spillantini MG, Sofroniew MV, Surani MA and Rabbitts TH.
  TITLE     Developmentally regulated and tissue specific expression of mRNAs
            encoding the two alternative forms of the LIM domain oncogene
            rhombotin: evidence for thymus expression
  JOURNAL   Oncogene 6 (5), 695-703 (1991)
   PUBMED   2052354
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X61118.1, CN355348.1,
            AC132216.7 and AC113192.3.
            On Nov 26, 2008 this sequence version replaced NP_005565.1.
            
            Summary: LMO2 encodes a cysteine-rich, two LIM-domain protein that
            is required for yolk sac erythropoiesis. The LMO2 protein has a
            central and crucial role in hematopoietic development and is highly
            conserved. The LMO2 transcription start site is located
            approximately 25 kb downstream from the 11p13 T-cell translocation
            cluster (11p13 ttc), where a number T-cell acute lymphoblastic
            leukemia-specific translocations occur. Alternative splicing
            results in multiple transcript variants encoding different
            isoforms.[provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X61118.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000257818.3/ ENSP00000257818.2
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..227
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     Protein         1..227
                     /product="rhombotin-2 isoform 1"
                     /note="T-cell translocation gene 2; rhombotin-like 1;
                     rhombotin-2; LIM domain only protein 2; cysteine-rich
                     protein TTG-2; T-cell translocation protein 2"
                     /calculated_mol_wt=24905
     Region          99..154
                     /region_name="LIM1_LMO2"
                     /note="The first LIM domain of LMO2 (LIM domain only
                     protein 2); cd09384"
                     /db_xref="CDD:188770"
     Site            order(99,102,120,123,126,129,149,152)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188770"
     Region          163..218
                     /region_name="LIM2_LMO2"
                     /note="The second LIM domain of LMO2 (LIM domain only
                     protein 2); cd09385"
                     /db_xref="CDD:188771"
     Site            order(163,166,185,188,191,194,213,216)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188771"
     CDS             1..227
                     /gene="LMO2"
                     /gene_synonym="LMO-2; RBTN2; RBTNL1; RHOM2; TTG2"
                     /coded_by="NM_005574.4:618..1301"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7888.2"
                     /db_xref="GeneID:4005"
                     /db_xref="HGNC:HGNC:6642"
                     /db_xref="MIM:180385"
ORIGIN      
        1 megsavtvle rggasspaer rskrrrrsgg dggggggara pegvrapaag qpratkgapp
       61 ppgtpppspm ssaierksld pseepvdevl qippslltcg gcqqnigdry flkaidqywh
      121 edclscdlcg crlgevgrrl yyklgrklcr rdylrlfgqd glcascdkri rayemtmrvk
      181 dkvyhlecfk caacqkhfcv gdryllinsd ivceqdiyew tkingmi
//
LOCUS       NP_666533                181 aa            linear   PRI 23-MAR-2023
DEFINITION  glutathione S-transferase Mu 1 isoform 2 [Homo sapiens].
ACCESSION   NP_666533
VERSION     NP_666533.1
DBSOURCE    REFSEQ: accession NM_146421.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 181)
  AUTHORS   Arshad K, Ishfaq U, Asif M, Akbar A, Pitafi KF, Mulghani MR,
            Shaheen U, Saeed S, Arif M, Bashir A, Farooq M, Brook AH and Iqbal
            F.
  TITLE     Association of GSTTI, M1 and Polymorphism in GSTPI with Chronic
            Periodontal Disease in a Pakistani Population
  JOURNAL   Genes (Basel) 14 (2), 455 (2023)
   PUBMED   36833382
  REMARK    GeneRIF: Association of GSTTI, M1 and Polymorphism in GSTPI with
            Chronic Periodontal Disease in a Pakistani Population.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 181)
  AUTHORS   Zeng X, Tian G, Zhu J, Yang F, Zhang R, Li H, An Z, Li J, Song J,
            Jiang J, Liu D and Wu W.
  TITLE     Air pollution associated acute respiratory inflammation and
            modification by GSTM1 and GSTT1 gene polymorphisms: a panel study
            of healthy undergraduates
  JOURNAL   Environ Health 22 (1), 14 (2023)
   PUBMED   36703205
  REMARK    GeneRIF: Air pollution associated acute respiratory inflammation
            and modification by GSTM1 and GSTT1 gene polymorphisms: a panel
            study of healthy undergraduates.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 181)
  AUTHORS   Elderdery AY, Idris HME, Tebien EM, Diab NA, Hamza SMA, Suliman BA,
            Alhamidi AH, Omer NE and Mills J.
  TITLE     Impact of GSTT1 and GSTM1 Polymorphisms in the Susceptibility to
            Philadelphia Negative Chronic Myeloid Leukaemia
  JOURNAL   Curr Cancer Drug Targets 23 (4), 319-324 (2023)
   PUBMED   36305131
  REMARK    GeneRIF: Impact of GSTT1 and GSTM1 Polymorphisms in the
            Susceptibility to Philadelphia Negative Chronic Myeloid Leukaemia.
REFERENCE   4  (residues 1 to 181)
  AUTHORS   Gautam P, Feroz Z, Tiwari S, Vijayraghavalu S, Shukla GC and Kumar
            M.
  TITLE     Investigating the Role of Glutathione S- Transferase Genes,
            Histopathological and Molecular Subtypes, Gene-Gene Interaction and
            Its Susceptibility to Breast Carcinoma in Ethnic North- Indian
            Population
  JOURNAL   Asian Pac J Cancer Prev 23 (10), 3481-3490 (2022)
   PUBMED   36308374
  REMARK    GeneRIF: Investigating the Role of Glutathione S- Transferase
            Genes, Histopathological and Molecular Subtypes, Gene-Gene
            Interaction and Its Susceptibility to Breast Carcinoma in Ethnic
            North- Indian Population.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 181)
  AUTHORS   Fang J, Fang F, Huang J, Zhang X and Wang H.
  TITLE     GSTM1 and GSTT1 Gene Polymorphisms with Gallbladder Carcinoma
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 68 (8), 64-68 (2022)
   PUBMED   36800835
  REMARK    GeneRIF: GSTM1 and GSTT1 Gene Polymorphisms with Gallbladder
            Carcinoma.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 181)
  AUTHORS   Zhong S, Wolf CR and Spurr NK.
  TITLE     Chromosomal assignment and linkage analysis of the human
            glutathione S-transferase mu gene (GSTM1) using intron specific
            polymerase chain reaction
  JOURNAL   Hum Genet 90 (4), 435-439 (1992)
   PUBMED   1483702
REFERENCE   7  (residues 1 to 181)
  AUTHORS   Singhal SS, Saxena M, Awasthi S, Ahmad H, Sharma R and Awasthi YC.
  TITLE     Gender related differences in the expression and characteristics of
            glutathione S-transferases of human colon
  JOURNAL   Biochim Biophys Acta 1171 (1), 19-26 (1992)
   PUBMED   1420361
REFERENCE   8  (residues 1 to 181)
  AUTHORS   Bogaards JJ, van Ommen B and van Bladeren PJ.
  TITLE     Purification and characterization of eight glutathione
            S-transferase isoenzymes of hamster. Comparison of subunit
            composition of enzymes from liver, kidney, testis, pancreas and
            trachea
  JOURNAL   Biochem J 286 (Pt 2) (Pt 2), 383-388 (1992)
   PUBMED   1530570
REFERENCE   9  (residues 1 to 181)
  AUTHORS   Strange RC, Fryer AA, Matharoo B, Zhao L, Broome J, Campbell DA,
            Jones P, Pastor IC and Singh RV.
  TITLE     The human glutathione S-transferases: comparison of isoenzyme
            expression in normal and astrocytoma brain
  JOURNAL   Biochim Biophys Acta 1139 (3), 222-228 (1992)
   PUBMED   1627661
REFERENCE   10 (residues 1 to 181)
  AUTHORS   Singhal SS, Ahmad H, Sharma R, Gupta S, Haque AK and Awasthi YC.
  TITLE     Purification and characterization of human muscle glutathione
            S-transferases: evidence that glutathione S-transferase zeta
            corresponds to a locus distinct from GST1, GST2, and GST3
  JOURNAL   Arch Biochem Biophys 285 (1), 64-73 (1991)
   PUBMED   1846734
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB459176.1, BC024005.2 and
            BC036805.1.
            
            Summary: Cytosolic and membrane-bound forms of glutathione
            S-transferase are encoded by two distinct supergene families. At
            present, eight distinct classes of the soluble cytoplasmic
            mammalian glutathione S-transferases have been identified: alpha,
            kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a
            glutathione S-transferase that belongs to the mu class. The mu
            class of enzymes functions in the detoxification of electrophilic
            compounds, including carcinogens, therapeutic drugs, environmental
            toxins and products of oxidative stress, by conjugation with
            glutathione. The genes encoding the mu class of enzymes are
            organized in a gene cluster on chromosome 1p13.3 and are known to
            be highly polymorphic. These genetic variations can change an
            individual's susceptibility to carcinogens and toxins as well as
            affect the toxicity and efficacy of certain drugs. Null mutations
            of this class mu gene have been linked with an increase in a number
            of cancers, likely due to an increased susceptibility to
            environmental toxins and carcinogens. Multiple protein isoforms are
            encoded by transcript variants of this gene. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (2) lacks an internal in-frame
            exon in the coding region, compared to variant 1. The resulting
            protein (isoform 2) maintains the reading frame but is 37 amino
            acids shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC024005.2, BG719768.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..181
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     Protein         1..181
                     /product="glutathione S-transferase Mu 1 isoform 2"
                     /EC_number="2.5.1.18"
                     /note="glutathione S-transferase M1;
                     S-(hydroxyalkyl)glutathione lyase; GST class-mu 1;
                     glutathione S-alkyltransferase; glutathione
                     S-aryltransferase; glutathione S-aralkyltransferase; HB
                     subunit 4; GST HB subunit 4"
                     /calculated_mol_wt=21122
     Region          3..84
                     /region_name="GST_N_Mu"
                     /note="GST_N family, Class Mu subfamily; GSTs are
                     cytosolic dimeric proteins involved in cellular
                     detoxification by catalyzing the conjugation of
                     glutathione (GSH) with a wide range of endogenous and
                     xenobiotic alkylating agents, including carcinogens;
                     cd03075"
                     /db_xref="CDD:239373"
     Site            order(7..8,46,50,59..60,72..73)
                     /site_type="other"
                     /note="GSH binding site (G-site) [chemical binding]"
                     /db_xref="CDD:239373"
     Site            order(10..12,15,18,22,25,35,74,77..78)
                     /site_type="other"
                     /note="C-terminal domain interface [polypeptide binding]"
                     /db_xref="CDD:239373"
     Site            order(56..57,68,72,78..79,82)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:239373"
     Region          92..175
                     /region_name="GST_C_family"
                     /note="C-terminal, alpha helical domain of the Glutathione
                     S-transferase family; cl02776"
                     /db_xref="CDD:445916"
     Site            order(98..99,102..103,106,137)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:198286"
     CDS             1..181
                     /gene="GSTM1"
                     /gene_synonym="GST1; GSTM1-1; GSTM1a-1a; GSTM1b-1b; GTH4;
                     GTM1; H-B; MU; MU-1"
                     /coded_by="NM_146421.3:58..603"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS810.1"
                     /db_xref="GeneID:2944"
                     /db_xref="HGNC:HGNC:4632"
                     /db_xref="MIM:138350"
ORIGIN      
        1 mpmilgywdi rglahairll leytdssyee kkytmgdapd ydrsqwlnek fklgldfpnl
       61 pylidgahki tqsnailcyi arkhnlcget eeekirvdil enqtmdnhmq lgmicynpef
      121 eklkpkylee lpeklklyse flgkrpwfag nkglekisay mkssrflprp vfskmavwgn
      181 k
//
LOCUS       NP_001035816             420 aa            linear   PRI 25-MAR-2023
DEFINITION  tyrosine-protein phosphatase non-receptor type 20 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001035816 XP_011537906
VERSION     NP_001035816.1
DBSOURCE    REFSEQ: accession NM_001042357.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 420)
  AUTHORS   van Eekelen M, Runtuwene V, Masselink W and den Hertog J.
  TITLE     Pair-wise regulation of convergence and extension cell movements by
            four phosphatases via RhoA
  JOURNAL   PLoS One 7 (4), e35913 (2012)
   PUBMED   22545146
REFERENCE   2  (residues 1 to 420)
  AUTHORS   Fodero-Tavoletti MT, Hardy MP, Cornell B, Katsis F, Sadek CM,
            Mitchell CA, Kemp BE and Tiganis T.
  TITLE     Protein tyrosine phosphatase hPTPN20a is targeted to sites of actin
            polymerization
  JOURNAL   Biochem J 389 (Pt 2), 343-354 (2005)
   PUBMED   15790311
  REMARK    GeneRIF: identification of hPTPN20a as a novel and widely expressed
            phosphatase with a dynamic subcellular distribution that is
            targeted to sites of actin polymerization
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX648913.1, AL050040.1,
            BC036539.2, AY704146.1, BC093750.1 and AL358791.24.
            On Mar 3, 2016 this sequence version replaced XP_011537906.1.
            
            Summary: The product of this gene belongs to the family of
            classical tyrosine-specific protein tyrosine phosphatases. Many
            protein tyrosine phosphatases have been shown to regulate
            fundamental cellular processes. The encoded protein appears to be
            targeted to sites of actin polymerization. A pseudogene of this
            gene has been defined on chromosome 10. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Apr
            2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.459898.1,
                                           SRR1803614.244317.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374339.5/ ENSP00000363459.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..420
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     Protein         1..420
                     /product="tyrosine-protein phosphatase non-receptor type
                     20 isoform 1"
                     /EC_number="3.1.3.48"
                     /note="protein tyrosine phosphatase, non-receptor type
                     20A; tyrosine-protein phosphatase non-receptor type 20;
                     protein tyrosine phosphatase, non-receptor type 20B"
                     /calculated_mol_wt=48292
     Region          1..47
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4JDL3.1)"
     Region          68..108
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4JDL3.1)"
     Site            76
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A1L1L3; propagated from
                     UniProtKB/Swiss-Prot (Q4JDL3.1)"
     Site            120
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A1L1L3; propagated from
                     UniProtKB/Swiss-Prot (Q4JDL3.1)"
     Region          208..414
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     CDS             1..420
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /coded_by="NM_001042357.5:198..1460"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS73110.1"
                     /db_xref="GeneID:26095"
                     /db_xref="HGNC:HGNC:23423"
                     /db_xref="MIM:610630"
ORIGIN      
        1 mssprdfrae pvndyegnds eaedlnfret lpsssqentp rskvfenkvn sekvklslrn
       61 fphndyedvf eepsesgsdp smwtargpfr rdrwssedee aagpsqalsp llsdtrkivs
      121 egeldqlaqi rplifnfheq taikdclkil eektaaydim qefmalelkn lpgefnsgnq
      181 psnreknryr dilpydstrv plgkskdyin asyirivncg eeyfyiatqg pllstiddfw
      241 qmvlennsnv iamitreieg giikcyhywp islkkplelk hfrvflenyq ilqyfiirmf
      301 qvvekstgts hsvkqlqftk wpdhgtpasa dsfikyirya rkshltgpmv vhcsagigrt
      361 gvflcvdvvf caivkncsfn imdivaqmre qrsgmvqtke qyhfcydivl evlrklltld
//
LOCUS       NP_001704                406 aa            linear   PRI 25-MAR-2023
DEFINITION  betaine--homocysteine S-methyltransferase 1 [Homo sapiens].
ACCESSION   NP_001704
VERSION     NP_001704.2
DBSOURCE    REFSEQ: accession NM_001713.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 406)
  AUTHORS   Sun YH, Gao J, Liu XD, Tang HW, Cao SL, Zhang JK, Wen PH, Wang ZH,
            Li J, Guo WZ and Zhang SJ.
  TITLE     Interaction analysis of gene variants related to one-carbon
            metabolism with chronic hepatitis B infection in Chinese patients
  JOURNAL   J Gene Med 23 (8), e3347 (2021)
   PUBMED   33894044
  REMARK    GeneRIF: Interaction analysis of gene variants related to
            one-carbon metabolism with chronic hepatitis B infection in Chinese
            patients.
REFERENCE   2  (residues 1 to 406)
  AUTHORS   Sternbach S, West N, Singhal NK, Clements R, Basu S, Tripathi A,
            Dutta R, Freeman EJ and McDonough J.
  TITLE     The BHMT-betaine methylation pathway epigenetically modulates
            oligodendrocyte maturation
  JOURNAL   PLoS One 16 (5), e0250486 (2021)
   PUBMED   33975330
  REMARK    GeneRIF: The BHMT-betaine methylation pathway epigenetically
            modulates oligodendrocyte maturation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 406)
  AUTHORS   Chmurzynska A, Seremak-Mrozikiewicz A, Malinowska AM, Rozycka A,
            Radziejewska A, KurzawiNska G, Barlik M, Wolski H and Drews K.
  TITLE     Associations between folate and choline intake, homocysteine
            metabolism, and genetic polymorphism of MTHFR, BHMT and PEMT in
            healthy pregnant Polish women
  JOURNAL   Nutr Diet 77 (3), 368-372 (2020)
   PUBMED   31044529
  REMARK    GeneRIF: Associations between folate and choline intake,
            homocysteine metabolism, and genetic polymorphism of MTHFR, BHMT
            and PEMT in healthy pregnant Polish women.
REFERENCE   4  (residues 1 to 406)
  AUTHORS   Huang X, Li D, Zhao Q, Zhang C, Ren B, Yue L, Du B, Godfrey O, Wang
            X and Zhang W.
  TITLE     Association between BHMT and CBS gene promoter methylation with the
            efficacy of folic acid therapy in patients with
            hyperhomocysteinemia
  JOURNAL   J Hum Genet 64 (12), 1227-1235 (2019)
   PUBMED   31558761
  REMARK    GeneRIF: Lower levels of BHMT or CBS promoter total methylation
            might be associated with increased the risk of treatment failure.
REFERENCE   5  (residues 1 to 406)
  AUTHORS   Imani MM, Lopez-Jornet P, Lopez EP, Ghanbari F and Sadeghi M.
  TITLE     Association of Betaine-Homocysteine S-Methyl Transferase (rs3797546
            and rs3733890) polymorphisms with non-syndromic cleft lip/palate: A
            meta-analysis
  JOURNAL   Int Orthod 17 (4), 643-651 (2019)
   PUBMED   31451344
  REMARK    GeneRIF: Association of Betaine-Homocysteine S-Methyl Transferase
            (rs3797546 and rs3733890) polymorphisms with non-syndromic cleft
            lip/palate: A meta-analysis.
REFERENCE   6  (residues 1 to 406)
  AUTHORS   Park EI and Garrow TA.
  TITLE     Interaction between dietary methionine and methyl donor intake on
            rat liver betaine-homocysteine methyltransferase gene expression
            and organization of the human gene
  JOURNAL   J Biol Chem 274 (12), 7816-7824 (1999)
   PUBMED   10075673
REFERENCE   7  (residues 1 to 406)
  AUTHORS   Millian NS and Garrow TA.
  TITLE     Human betaine-homocysteine methyltransferase is a zinc
            metalloenzyme
  JOURNAL   Arch Biochem Biophys 356 (1), 93-98 (1998)
   PUBMED   9681996
REFERENCE   8  (residues 1 to 406)
  AUTHORS   Sunden SL, Renduchintala MS, Park EI, Miklasz SD and Garrow TA.
  TITLE     Betaine-homocysteine methyltransferase expression in porcine and
            human tissues and chromosomal localization of the human gene
  JOURNAL   Arch Biochem Biophys 345 (1), 171-174 (1997)
   PUBMED   9281325
REFERENCE   9  (residues 1 to 406)
  AUTHORS   Garrow TA.
  TITLE     Purification, kinetic properties, and cDNA cloning of mammalian
            betaine-homocysteine methyltransferase
  JOURNAL   J Biol Chem 271 (37), 22831-22838 (1996)
   PUBMED   8798461
REFERENCE   10 (residues 1 to 406)
  AUTHORS   McKeever MP, Weir DG, Molloy A and Scott JM.
  TITLE     Betaine-homocysteine methyltransferase: organ distribution in man,
            pig and rat and subcellular distribution in the rat
  JOURNAL   Clin Sci (Lond) 81 (4), 551-556 (1991)
   PUBMED   1657504
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC012616.1 and BM678994.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 14, 2007 this sequence version replaced NP_001704.1.
            
            Summary: This gene encodes a cytosolic enzyme that catalyzes the
            conversion of betaine and homocysteine to dimethylglycine and
            methionine, respectively. Defects in this gene could lead to
            hyperhomocyst(e)inemia, but such a defect has not yet been
            observed. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.171917.1, EU794592.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274353.10/ ENSP00000274353.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..406
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     Protein         1..406
                     /product="betaine--homocysteine S-methyltransferase 1"
                     /EC_number="2.1.1.5"
                     /note="epididymis secretory sperm binding protein Li 61p"
                     /calculated_mol_wt=44868
     Region          23..314
                     /region_name="S-methyl_trans"
                     /note="Homocysteine S-methyltransferase; pfam02574"
                     /db_xref="CDD:426843"
     Site            330
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O09171; propagated from
                     UniProtKB/Swiss-Prot (Q93088.2)"
     CDS             1..406
                     /gene="BHMT"
                     /gene_synonym="BHMT1; HEL-S-61p"
                     /coded_by="NM_001713.3:78..1298"
                     /db_xref="CCDS:CCDS4046.1"
                     /db_xref="GeneID:635"
                     /db_xref="HGNC:HGNC:1047"
                     /db_xref="MIM:602888"
ORIGIN      
        1 mppvggkkak kgilerlnag eivigdggfv falekrgyvk agpwtpeaav ehpeavrqlh
       61 reflragsnv mqtftfyase dklenrgnyv lekisgqevn eaacdiarqv adegdalvag
      121 gvsqtpsyls cksetevkkv flqqlevfmk knvdfliaey fehveeavwa vetliasgkp
      181 vaatmcigpe gdlhgvppge cavrlvkaga siigvnchfd ptislktvkl mkegleaarl
      241 kahlmsqpla yhtpdcnkqg fidlpefpfg leprvatrwd iqkyareayn lgvryiggcc
      301 gfepyhirai aeelapergf lppasekhgs wgsgldmhtk pwvrararke ywenlriasg
      361 rpynpsmskp dgwgvtkgta elmqqkeatt eqqlkelfek qkfksq
//
LOCUS       NP_001394673            1815 aa            linear   PRI 25-MAR-2023
DEFINITION  breast cancer type 1 susceptibility protein isoform 37 [Homo
            sapiens].
ACCESSION   NP_001394673
VERSION     NP_001394673.1
DBSOURCE    REFSEQ: accession NM_001407744.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1815)
  AUTHORS   Orban TI and Olah E.
  TITLE     Emerging roles of BRCA1 alternative splicing
  JOURNAL   Mol Pathol 56 (4), 191-197 (2003)
   PUBMED   12890739
  REMARK    Review article
REFERENCE   2  (residues 1 to 1815)
  AUTHORS   Orban TI and Olah E.
  TITLE     Expression profiles of BRCA1 splice variants in asynchronous and in
            G1/S synchronized tumor cell lines
  JOURNAL   Biochem Biophys Res Commun 280 (1), 32-38 (2001)
   PUBMED   11162473
REFERENCE   3  (residues 1 to 1815)
  AUTHORS   Paterson JW.
  TITLE     BRCA1: a review of structure and putative functions
  JOURNAL   Dis Markers 13 (4), 261-274 (1998)
   PUBMED   9553742
  REMARK    Review article
REFERENCE   4  (residues 1 to 1815)
  AUTHORS   Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S,
            Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E.
  TITLE     Mutations and alternative splicing of the BRCA1 gene in UK
            breast/ovarian cancer families
  JOURNAL   Genes Chromosomes Cancer 18 (2), 102-110 (1997)
   PUBMED   9115959
REFERENCE   5  (residues 1 to 1815)
  AUTHORS   Wilson CA, Payton MN, Elliott GS, Buaas FW, Cajulis EE, Grosshans
            D, Ramos L, Reese DM, Slamon DJ and Calzone FJ.
  TITLE     Differential subcellular localization, expression and biological
            toxicity of BRCA1 and the splice variant BRCA1-delta11b
  JOURNAL   Oncogene 14 (1), 1-16 (1997)
   PUBMED   9010228
REFERENCE   6  (residues 1 to 1815)
  AUTHORS   Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, Yao J, Farid
            LM, Couch FJ, Wilson RB and Weber BL.
  TITLE     Localization of BRCA1 and a splice variant identifies the nuclear
            localization signal
  JOURNAL   Mol Cell Biol 17 (1), 444-452 (1997)
   PUBMED   8972225
REFERENCE   7  (residues 1 to 1815)
  AUTHORS   Lu M, Conzen SD, Cole CN and Arrick BA.
  TITLE     Characterization of functional messenger RNA splice variants of
            BRCA1 expressed in nonmalignant and tumor-derived breast cells
  JOURNAL   Cancer Res 56 (20), 4578-4581 (1996)
   PUBMED   8840964
REFERENCE   8  (residues 1 to 1815)
  AUTHORS   Holt JT, Thompson ME, Szabo C, Robinson-Benion C, Arteaga CL, King
            MC and Jensen RA.
  TITLE     Growth retardation and tumour inhibition by BRCA1
  JOURNAL   Nat Genet 12 (3), 298-302 (1996)
   PUBMED   8589721
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
REFERENCE   9  (residues 1 to 1815)
  AUTHORS   Xu CF, Brown MA, Chambers JA, Griffiths B, Nicolai H and Solomon E.
  TITLE     Distinct transcription start sites generate two forms of BRCA1 mRNA
  JOURNAL   Hum Mol Genet 4 (12), 2259-2264 (1995)
   PUBMED   8634696
REFERENCE   10 (residues 1 to 1815)
  AUTHORS   Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K,
            Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al.
  TITLE     A strong candidate for the breast and ovarian cancer susceptibility
            gene BRCA1
  JOURNAL   Science 266 (5182), 66-71 (1994)
   PUBMED   7545954
REFERENCE   11 (residues 1 to 1815)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
REFERENCE   12 (residues 1 to 1815)
  AUTHORS   Petrucelli,N., Daly,M.B. and Pal,T.
  TITLE     BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135721.4.
            
            Summary: This gene encodes a 190 kD nuclear phosphoprotein that
            plays a role in maintaining genomic stability, and it also acts as
            a tumor suppressor. The BRCA1 gene contains 22 exons spanning about
            110 kb of DNA. The encoded protein combines with other tumor
            suppressors, DNA damage sensors, and signal transducers to form a
            large multi-subunit protein complex known as the BRCA1-associated
            genome surveillance complex (BASC). This gene product associates
            with RNA polymerase II, and through the C-terminal domain, also
            interacts with histone deacetylase complexes. This protein thus
            plays a role in transcription, DNA repair of double-stranded
            breaks, and recombination. Mutations in this gene are responsible
            for approximately 40% of inherited breast cancers and more than 80%
            of inherited breast and ovarian cancers. Alternative splicing plays
            a role in modulating the subcellular localization and physiological
            function of this gene. Many alternatively spliced transcript
            variants, some of which are disease-associated mutations, have been
            described for this gene, but the full-length natures of only some
            of these variants has been described. A related pseudogene, which
            is also located on chromosome 17, has been identified. [provided by
            RefSeq, May 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.2054512.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1815
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..1815
                     /product="breast cancer type 1 susceptibility protein
                     isoform 37"
                     /EC_number="2.3.2.27"
                     /note="BRCA1/BRCA2-containing complex, subunit 1; RING
                     finger protein 53; breast cancer type 1 susceptibility
                     protein; breast and ovarian cancer susceptibility protein
                     1; protein phosphatase 1, regulatory subunit 53; Fanconi
                     anemia, complementation group S; early onset breast cancer
                     1; breast cancer 1, early onset"
                     /calculated_mol_wt=202084
     Region          <1..52
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Region          297..459
                     /region_name="BRCT_assoc"
                     /note="Serine-rich domain associated with BRCT; pfam12820"
                     /db_xref="CDD:432806"
     Region          1602..1698
                     /region_name="BRCT_BRCA1_rpt1"
                     /note="first BRCT domain of breast cancer type 1
                     susceptibility protein (BRCA1) and similar proteins;
                     cd17735"
                     /db_xref="CDD:349367"
     Site            order(1606..1608,1610,1650..1654,1656,1692)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349367"
     Region          1710..1807
                     /region_name="BRCT_BRCA1_rpt2"
                     /note="second (C-terminal) BRCT domain of breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd17721"
                     /db_xref="CDD:349353"
     Site            order(1726..1727,1787..1788,1792,1804..1805)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349353"
     CDS             1..1815
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /coded_by="NM_001407744.1:201..5648"
                     /note="isoform 37 is encoded by transcript variant 127"
                     /db_xref="GeneID:672"
                     /db_xref="HGNC:HGNC:1100"
                     /db_xref="MIM:113705"
ORIGIN      
        1 mlkllnqkkg psqcplcknd itkrslqest rfsqlveell kiicafqldt gleyansynf
       61 akkennspeh lkdevsiiqs mgyrnrakrl lqsepenpsl etslsvqlsn lgtvrtlrtk
      121 qriqpqktsv yielgsdsse dtvnkatycs vgdqellqit pqgtrdeisl dsakkaacef
      181 setdvtnteh hqpsnndlnt tekraaerhp ekyqgssvsn lhvepcgtnt hasslqhens
      241 sllltkdrmn vekaefcnks kqpglarsqh nrwagsketc ndrrtpstek kvdlnadplc
      301 erkewnkqkl pcsenprdte dvpwitlnss iqkvnewfsr sdellgsdds hdgesesnak
      361 vadvldvlne vdeysgssek idllasdphe alickservh sksvesnied kifgktyrkk
      421 aslpnlshvt enliigafvt epqiiqerpl tnklkrkrrp tsglhpedfi kkadlavqkt
      481 peminqgtnq teqngqvmni tnsghenktk gdsiqneknp npieslekes afktkaepis
      541 ssisnmelel nihnskapkk nrlrrksstr hihalelvvs rnlsppncte lqidscssse
      601 eikkkkynqm pvrhsrnlql megkepatga kksnkpneqt skrhdsdtfp elkltnapgs
      661 ftkcsntsel kefvnpslpr eekeekletv kvsnnaedpk dlmlsgervl qtersvesss
      721 islvpgtdyg tqesisllev stlgkaktep nkcvsqcaaf enpkglihgc skdnrndteg
      781 fkyplghevn hsretsieme eseldaqylq ntfkvskrqs fapfsnpgna eeecatfsah
      841 sgslkkqspk vtfeceqkee nqgknesnik pvqtvnitag fpvvgqkdkp vdnakcsikg
      901 gsrfclssqf rgnetglitp nkhgllqnpy ripplfpiks fvktkckknl leenfeehsm
      961 speremgnen ipstvstisr nnirenvfke asssninevg sstnevgssi neigssdeni
     1021 qaelgrnrgp klnamlrlgv lqpevykqsl pgsnckhpei kkqeyeevvq tvntdfspyl
     1081 isdnleqpmg sshasqvcse tpddllddge ikedtsfaen dikessavfs ksvqkgelsr
     1141 spspfththl aqgyrrgakk lesseenlss edeelpcfqh llfgkvnnip sqstrhstva
     1201 teclskntee nllslknsln dcsnqvilak asqehhlsee tkcsaslfss qcseledlta
     1261 ntntqdpfli gsskqmrhqs esqgvglsdk elvsddeerg tgleennqee qsmdsnlgea
     1321 asgcesetsv sedcsglssq sdilttqqrd tmqhnliklq qemaeleavl eqhgsqpsns
     1381 ypsiisdssa ledlrnpeqs tsekavltsq ksseypisqn peglsadkfe vsadsstskn
     1441 kepgverssp skcpslddrw ymhscsgslq nrnypsqeel ikvvdveeqq leesgphdlt
     1501 etsylprqdl egtpylesgi slfsddpesd psedrapesa rvgnipssts alkvpqlkva
     1561 esaqspaaah ttdtagynam eesvsrekpe ltastervnk rmsmvvsglt peefmlvykf
     1621 arkhhitltn liteetthvv mktdaefvce rtlkyflgia ggkwvvsyfw vtqsikerkm
     1681 lnehdfevrg dvvngrnhqg pkraresqdr kifrgleicc ygpftnmptd qlewmvqlcg
     1741 asvvkelssf tlgtgvhpiv vvqpdawted ngfhaigqmc eapvvtrewv ldsvalyqcq
     1801 eldtylipqi phshy
//
LOCUS       NP_001191221             239 aa            linear   PRI 26-MAR-2023
DEFINITION  mucin-1 isoform 16 precursor [Homo sapiens].
ACCESSION   NP_001191221
VERSION     NP_001191221.1
DBSOURCE    REFSEQ: accession NM_001204292.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 239)
  AUTHORS   Morimoto Y, Yamashita N, Hirose H, Fushimi A, Haratake N, Daimon T,
            Bhattacharya A, Ahmad R, Suzuki Y, Takahashi H and Kufe DW.
  TITLE     MUC1-C is necessary for SHP2 activation and BRAF inhibitor
            resistance in BRAF(V600E) mutant colorectal cancer
  JOURNAL   Cancer Lett 559, 216116 (2023)
   PUBMED   36878307
  REMARK    GeneRIF: MUC1-C is necessary for SHP2 activation and BRAF inhibitor
            resistance in BRAF(V600E) mutant colorectal cancer.
REFERENCE   2  (residues 1 to 239)
  AUTHORS   Levitin F, Baruch A, Weiss M, Stiegman K, Hartmann ML, Yoeli-Lerner
            M, Ziv R, Zrihan-Licht S, Shina S, Gat A, Lifschitz B, Simha M,
            Stadler Y, Cholostoy A, Gil B, Greaves D, Keydar I, Zaretsky J,
            Smorodinsky N and Wreschner DH.
  TITLE     A novel protein derived from the MUC1 gene by alternative splicing
            and frameshifting
  JOURNAL   J Biol Chem 280 (11), 10655-10663 (2005)
   PUBMED   15623537
  REMARK    GeneRIF: analysis of a novel MUC1 protein isoform MUC1/ZD, which is
            generated by an alternative splicing event that both deletes the
            tandem-repeat array and leads to a C-terminal reading frameshift
REFERENCE   3  (residues 1 to 239)
  AUTHORS   Parry S, Silverman HS, McDermott K, Willis A, Hollingsworth MA and
            Harris A.
  TITLE     Identification of MUC1 proteolytic cleavage sites in vivo
  JOURNAL   Biochem Biophys Res Commun 283 (3), 715-720 (2001)
   PUBMED   11341784
REFERENCE   4  (residues 1 to 239)
  AUTHORS   Zrihan-Licht S, Vos HL, Baruch A, Elroy-Stein O, Sagiv D, Keydar I,
            Hilkens J and Wreschner DH.
  TITLE     Characterization and molecular cloning of a novel MUC1 protein,
            devoid of tandem repeats, expressed in human breast cancer tissue
  JOURNAL   Eur J Biochem 224 (2), 787-795 (1994)
   PUBMED   7925397
REFERENCE   5  (residues 1 to 239)
  AUTHORS   Bleyer,A.J., Zivna,M., Kidd,K. and Kmoch,S.
  TITLE     Autosomal Dominant Tubulointerstitial Kidney Disease - MUC1
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23946964
REFERENCE   6  (residues 1 to 239)
  AUTHORS   Lancaster CA, Peat N, Duhig T, Wilson D, Taylor-Papadimitriou J and
            Gendler SJ.
  TITLE     Structure and expression of the human polymorphic epithelial mucin
            gene: an expressed VNTR unit
  JOURNAL   Biochem Biophys Res Commun 173 (3), 1019-1029 (1990)
   PUBMED   2268309
REFERENCE   7  (residues 1 to 239)
  AUTHORS   Tsarfaty I, Hareuveni M, Horev J, Zaretsky J, Weiss M, Jeltsch JM,
            Garnier JM, Lathe R, Keydar I and Wreschner DH.
  TITLE     Isolation and characterization of an expressed hypervariable gene
            coding for a breast-cancer-associated antigen
  JOURNAL   Gene 93 (2), 313-318 (1990)
   PUBMED   1688329
REFERENCE   8  (residues 1 to 239)
  AUTHORS   Lan MS, Batra SK, Qi WN, Metzgar RS and Hollingsworth MA.
  TITLE     Cloning and sequencing of a human pancreatic tumor mucin cDNA
  JOURNAL   J Biol Chem 265 (25), 15294-15299 (1990)
   PUBMED   2394722
REFERENCE   9  (residues 1 to 239)
  AUTHORS   Gendler SJ, Lancaster CA, Taylor-Papadimitriou J, Duhig T, Peat N,
            Burchell J, Pemberton L, Lalani EN and Wilson D.
  TITLE     Molecular cloning and expression of human tumor-associated
            polymorphic epithelial mucin
  JOURNAL   J Biol Chem 265 (25), 15286-15293 (1990)
   PUBMED   1697589
REFERENCE   10 (residues 1 to 239)
  AUTHORS   Ligtenberg MJ, Vos HL, Gennissen AM and Hilkens J.
  TITLE     Episialin, a carcinoma-associated mucin, is generated by a
            polymorphic gene encoding splice variants with alternative amino
            termini
  JOURNAL   J Biol Chem 265 (10), 5573-5578 (1990)
   PUBMED   2318825
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from J05581.1, EF670709.1,
            AC234582.3 and AA425062.1.
            
            Summary: This gene encodes a membrane-bound protein that is a
            member of the mucin family. Mucins are O-glycosylated proteins that
            play an essential role in forming protective mucous barriers on
            epithelial surfaces. These proteins also play a role in
            intracellular signaling. This protein is expressed on the apical
            surface of epithelial cells that line the mucosal surfaces of many
            different tissues including lung, breast stomach and pancreas. This
            protein is proteolytically cleaved into alpha and beta subunits
            that form a heterodimeric complex. The N-terminal alpha subunit
            functions in cell-adhesion and the C-terminal beta subunit is
            involved in cell signaling. Overexpression, aberrant intracellular
            localization, and changes in glycosylation of this protein have
            been associated with carcinomas. This gene is known to contain a
            highly polymorphic variable number tandem repeats (VNTR) domain.
            Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (16) has multiple differences
            compared to variant 1, one of which results in a translational
            frameshift in the central coding region. The encoded isoform (16)
            is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EF670709.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..239
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     Protein         1..239
                     /product="mucin-1 isoform 16 precursor"
                     /note="peanut-reactive urinary mucin; episialin;
                     polymorphic epithelial mucin; H23 antigen; mucin 1,
                     transmembrane; tumor associated epithelial mucin; breast
                     carcinoma-associated antigen DF3; cancer antigen 15-3;
                     carcinoma-associated mucin; tumor-associated epithelial
                     membrane antigen; krebs von den Lungen-6"
                     /calculated_mol_wt=22986
     sig_peptide     1..23
                     /inference="protein motif:SignalP:3.0"
                     /note="The cleavage site of the signal peptide has not
                     been experimentally determined."
                     /calculated_mol_wt=2437
     mat_peptide     24..239
                     /product="mucin-1 isoform 16"
                     /calculated_mol_wt=22986
     Region          <80..136
                     /region_name="SEA"
                     /note="SEA domain; cl02507"
                     /db_xref="CDD:445803"
     CDS             1..239
                     /gene="MUC1"
                     /gene_synonym="ADMCKD; ADMCKD1; ADTKD2; CA 15-3; Ca15-3;
                     CD227; EMA; H23AG; KL-6; MAM6; MCD; MCKD; MCKD1; MUC-1;
                     MUC-1/SEC; MUC-1/X; MUC1/ZD; PEM; PEMT; PUM"
                     /coded_by="NM_001204292.1:73..792"
                     /note="isoform 16 precursor is encoded by transcript
                     variant 16"
                     /db_xref="CCDS:CCDS72935.1"
                     /db_xref="GeneID:4582"
                     /db_xref="HGNC:HGNC:7508"
                     /db_xref="MIM:158340"
ORIGIN      
        1 mtpgtqspff llllltvlta ttapkpatvv tgsghasstp ggeketsatq rssvpsstek
       61 naipaptttk scretflkwp gsvvvqltla fregtinvhd vetqfnqykt eaasrynlti
      121 sdvsvsdvpf pfsaqsgagv pgwgiallvl vcvlvalaiv ylialavcqc rrknygqldi
      181 fpardtyhpm seyptyhthg ryvppsstdr spyekvsagn ggsslsytnp avaatsanl
//
LOCUS       NP_036366                228 aa            linear   PRI 31-MAR-2023
DEFINITION  RING1 and YY1-binding protein [Homo sapiens].
ACCESSION   NP_036366
VERSION     NP_036366.3
DBSOURCE    REFSEQ: accession NM_012234.7
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 228)
  AUTHORS   Shang J, Lin L, Huang X, Zhou L and Huang Q.
  TITLE     Re-expression of circ_0043610 contributes to trophoblast
            dysfunction through the miR-558/RYBP pathway in preeclampsia
  JOURNAL   Endocr J 69 (12), 1373-1385 (2022)
   PUBMED   35908953
  REMARK    GeneRIF: Re-expression of circ_0043610 contributes to trophoblast
            dysfunction through the miR-558/RYBP pathway in preeclampsia.
REFERENCE   2  (residues 1 to 228)
  AUTHORS   Maybee DV, Psaras AM, Brooks TA and Ali MAM.
  TITLE     RYBP Sensitizes Cancer Cells to PARP Inhibitors by Regulating ATM
            Activity
  JOURNAL   Int J Mol Sci 23 (19), 11764 (2022)
   PUBMED   36233063
  REMARK    GeneRIF: RYBP Sensitizes Cancer Cells to PARP Inhibitors by
            Regulating ATM Activity.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 228)
  AUTHORS   Neira JL, Jimenez-Alesanco A, Rizzuti B and Velazquez-Campoy A.
  TITLE     The nuclear localization sequence of the epigenetic factor RYBP
            binds to human importin alpha3
  JOURNAL   Biochim Biophys Acta Proteins Proteom 1869 (8), 140670 (2021)
   PUBMED   33945888
  REMARK    GeneRIF: The nuclear localization sequence of the epigenetic factor
            RYBP binds to human importin alpha3.
REFERENCE   4  (residues 1 to 228)
  AUTHORS   Zhang C, Wang H, Deng M, He L, Ping F, He Y, Fan Z, Cheng B and Xia
            J.
  TITLE     Upregulated miR-411-5p levels promote lymph node metastasis by
            targeting RYBP in head and neck squamous cell carcinoma
  JOURNAL   Int J Mol Med 47 (4) (2021)
   PUBMED   33537835
  REMARK    GeneRIF: Upregulated miR4115p levels promote lymph node metastasis
            by targeting RYBP in head and neck squamous cell carcinoma.
REFERENCE   5  (residues 1 to 228)
  AUTHORS   Freire-Beneitez V, Pomella N, Millner TO, Dumas AA, Niklison-Chirou
            MV, Maniati E, Wang J, Rajeeve V, Cutillas P and Marino S.
  TITLE     Elucidation of the BMI1 interactome identifies novel regulatory
            roles in glioblastoma
  JOURNAL   NAR Cancer 3 (1), zcab009 (2021)
   PUBMED   34316702
  REMARK    Erratum:[NAR Cancer. 2021 May 25;3(2):zcab020. PMID: 34319293]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 228)
  AUTHORS   Schlisio S, Halperin T, Vidal M and Nevins JR.
  TITLE     Interaction of YY1 with E2Fs, mediated by RYBP, provides a
            mechanism for specificity of E2F function
  JOURNAL   EMBO J 21 (21), 5775-5786 (2002)
   PUBMED   12411495
  REMARK    GeneRIF: interacts specifically with the E2F2 and E2F3 family
            members, dependent on the marked box domain in these proteins
REFERENCE   7  (residues 1 to 228)
  AUTHORS   Sawa C, Yoshikawa T, Matsuda-Suzuki F, Delehouzee S, Goto M,
            Watanabe H, Sawada J, Kataoka K and Handa H.
  TITLE     YEAF1/RYBP and YAF-2 are functionally distinct members of a
            cofactor family for the YY1 and E4TF1/hGABP transcription factors
  JOURNAL   J Biol Chem 277 (25), 22484-22490 (2002)
   PUBMED   11953439
  REMARK    GeneRIF: YEAF1/RYBP and YAF-2 are functionally distinct members of
            a cofactor family for the YY1 and E4TF1/hGABP transcription
            factors.
REFERENCE   8  (residues 1 to 228)
  AUTHORS   Zheng L, Schickling O, Peter ME and Lenardo MJ.
  TITLE     The death effector domain-associated factor plays distinct
            regulatory roles in the nucleus and cytoplasm
  JOURNAL   J Biol Chem 276 (34), 31945-31952 (2001)
   PUBMED   11395500
REFERENCE   9  (residues 1 to 228)
  AUTHORS   Trimarchi JM, Fairchild B, Wen J and Lees JA.
  TITLE     The E2F6 transcription factor is a component of the mammalian
            Bmi1-containing polycomb complex
  JOURNAL   Proc Natl Acad Sci U S A 98 (4), 1519-1524 (2001)
   PUBMED   11171983
REFERENCE   10 (residues 1 to 228)
  AUTHORS   Garcia E, Marcos-Gutierrez C, del Mar Lorente M, Moreno JC and
            Vidal M.
  TITLE     RYBP, a new repressor protein that interacts with components of the
            mammalian Polycomb complex, and with the transcription factor YY1
  JOURNAL   EMBO J 18 (12), 3404-3418 (1999)
   PUBMED   10369680
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC255560.1.
            On Aug 16, 2006 this sequence version replaced NP_036366.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMN03267754
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..228
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p13"
     Protein         1..228
                     /product="RING1 and YY1-binding protein"
                     /note="YY1 and E4TF1 associated factor 1; death effector
                     domain-associated factor; ring1 interactor RYBP;
                     apoptin-associating protein 1; DED-associated factor"
                     /calculated_mol_wt=24690
     Region          1..21
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N488.2)"
     Region          22..45
                     /region_name="zf-RanBP"
                     /note="Zn-finger in Ran binding protein and others;
                     pfam00641"
                     /db_xref="CDD:395516"
     Region          25..44
                     /region_name="RanBP2-type Zn finger"
                     /note="RanBP2-type Zn finger [structural motif]"
                     /db_xref="CDD:275376"
     Region          65..156
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N488.2)"
     Site            99
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8N488.2)"
     Site            123
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N488.2)"
     Site            127
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N488.2)"
     Site            130
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8N488.2)"
     Region          143..226
                     /region_name="Interaction with GABPB1 and FANK1.
                     /evidence=ECO:0000269|PubMed:11953439,
                     ECO:0000269|PubMed:27060496"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N488.2)"
     Region          145..176
                     /region_name="YAF2_RYBP"
                     /note="Yaf2/RYBP C-terminal binding motif; pfam17219"
                     /db_xref="CDD:407339"
     Region          172..228
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N488.2)"
     Site            227
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8N488.2)"
     CDS             1..228
                     /gene="RYBP"
                     /gene_synonym="AAP1; APAP-1; DEDAF; YEAF1"
                     /coded_by="NM_012234.7:184..870"
                     /db_xref="GeneID:23429"
                     /db_xref="HGNC:HGNC:10480"
                     /db_xref="MIM:607535"
ORIGIN      
        1 mtmgdkkspt rpkrqakpaa degfwdcsvc tfrnsaeafk csicdvrkgt strkprinsq
       61 lvaqqvaqqy atppppkkek kekvekqdke kpekdkeisp svtkkntnkk tkpksdilkd
      121 ppseansiqs anattktset nhtsrprlkn vdrstaqqla vtvgnvtvii tdfkektrss
      181 stssstvtss agseqqnqss sgsestdkgs srsstpkgdm savndesf
//
LOCUS       NP_694691               1161 aa            linear   PRI 10-APR-2023
DEFINITION  myotubularin-related protein 3 isoform b [Homo sapiens].
ACCESSION   NP_694691
VERSION     NP_694691.1
DBSOURCE    REFSEQ: accession NM_153051.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1161)
  AUTHORS   Wei X, Feng Y, Fu Y, Liu F, Chen Q, Zhang W, Zhao Y, Huang X, Chen
            Y, Li Q and Zhang Q.
  TITLE     miR-100-5p is upregulated in multiple myeloma and involves in the
            pathogenesis of multiple myeloma through targeting MTMR3
  JOURNAL   Hematology 28 (1), 2196857 (2023)
   PUBMED   37014739
  REMARK    GeneRIF: miR-100-5p is upregulated in multiple myeloma and involves
            in the pathogenesis of multiple myeloma through targeting MTMR3.
REFERENCE   2  (residues 1 to 1161)
  AUTHORS   Sun G, Li Z, He Z, Wang W, Wang S, Zhang X, Cao J, Xu P, Wang H,
            Huang X, Xia Y, Lv J, Xuan Z, Jiang T, Fang L, Yang J, Zhang D, Xu
            H and Xu Z.
  TITLE     Circular RNA MCTP2 inhibits cisplatin resistance in gastric cancer
            by miR-99a-5p-mediated induction of MTMR3 expression
  JOURNAL   J Exp Clin Cancer Res 39 (1), 246 (2020)
   PUBMED   33198772
  REMARK    GeneRIF: Circular RNA MCTP2 inhibits cisplatin resistance in
            gastric cancer by miR-99a-5p-mediated induction of MTMR3
            expression.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1161)
  AUTHORS   Wang B, Mao JH, Wang BY, Wang LX, Wen HY, Xu LJ, Fu JX and Yang H.
  TITLE     Exosomal miR-1910-3p promotes proliferation, metastasis, and
            autophagy of breast cancer cells by targeting MTMR3 and activating
            the NF-kappaB signaling pathway
  JOURNAL   Cancer Lett 489, 87-99 (2020)
   PUBMED   32531321
  REMARK    GeneRIF: Exosomal miR-1910-3p promotes proliferation, metastasis,
            and autophagy of breast cancer cells by targeting MTMR3 and
            activating the NF-kappaB signaling pathway.
REFERENCE   4  (residues 1 to 1161)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 1161)
  AUTHORS   Zhang H, He Y, He X, Wang L, Jin T and Yuan D.
  TITLE     Three SNPs of FCRL3 and one SNP of MTMR3 are associated with
            immunoglobulin A nephropathy risk
  JOURNAL   Immunobiology 225 (1), 151869 (2020)
   PUBMED   31780315
  REMARK    GeneRIF: Three SNPs of FCRL3 and one SNP of MTMR3 are associated
            with immunoglobulin A nephropathy risk.
REFERENCE   6  (residues 1 to 1161)
  AUTHORS   Taylor GS, Maehama T and Dixon JE.
  TITLE     Myotubularin, a protein tyrosine phosphatase mutated in myotubular
            myopathy, dephosphorylates the lipid second messenger,
            phosphatidylinositol 3-phosphate
  JOURNAL   Proc Natl Acad Sci U S A 97 (16), 8910-8915 (2000)
   PUBMED   10900271
REFERENCE   7  (residues 1 to 1161)
  AUTHORS   Zhao R, Qi Y and Zhao ZJ.
  TITLE     FYVE-DSP1, a dual-specificity protein phosphatase containing an
            FYVE domain
  JOURNAL   Biochem Biophys Res Commun 270 (1), 222-229 (2000)
   PUBMED   10733931
REFERENCE   8  (residues 1 to 1161)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   9  (residues 1 to 1161)
  AUTHORS   Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N and
            Mandel JL.
  TITLE     Characterization of the myotubularin dual specificity phosphatase
            gene family from yeast to human
  JOURNAL   Hum Mol Genet 7 (11), 1703-1712 (1998)
   PUBMED   9736772
  REMARK    GeneRIF: MTMR3 belongs to the myotubularin family of
            phosphoinositides phosphatases
REFERENCE   10 (residues 1 to 1161)
  AUTHORS   Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck
            SM, Poustka A and Dahl N.
  TITLE     A gene mutated in X-linked myotubular myopathy defines a new
            putative tyrosine phosphatase family conserved in yeast
  JOURNAL   Nat Genet 13 (2), 175-182 (1996)
   PUBMED   8640223
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA126318.1, AB002369.1,
            AF233437.1, AC003071.1 and BU733010.1.
            
            Summary: This gene encodes a member of the myotubularin dual
            specificity protein phosphatase gene family. The encoded protein is
            structurally similar to myotubularin but in addition contains a
            FYVE domain and an N-terminal PH-GRAM domain. The protein can
            self-associate and also form heteromers with another myotubularin
            related protein. The protein binds to phosphoinositide lipids
            through the PH-GRAM domain, and can hydrolyze
            phosphatidylinositol(3)-phosphate and
            phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein
            has been observed to have a perinuclear, possibly membrane-bound,
            distribution in cells, but it has also been found free in the
            cytoplasm. Multiple transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 3, resulting in a protein (isoform b) that
            is shorter than isoform c.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.231395.1,
                                           SRR1803615.204172.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1161
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..1161
                     /product="myotubularin-related protein 3 isoform b"
                     /EC_number="3.1.3.48"
                     /EC_number="3.1.3.64"
                     /EC_number="3.1.3.95"
                     /note="zinc finger, FYVE domain containing 10; FYVE (Fab1
                     YGLO23 Vsp27 EEA1 domain) dual-specificity protein
                     phosphatase; zinc finger FYVE domain-containing protein
                     10; FYVE domain-containing dual specificity protein
                     phosphatase 1; phosphatidylinositol-3-phosphate
                     phosphatase; phosphatidylinositol-3,5-bisphosphate
                     3-phosphatase"
                     /calculated_mol_wt=129313
     Region          23..116
                     /region_name="PH-GRAM_MTMR3"
                     /note="Myotubularian (MTM) related 3 protein (MTMR3)
                     Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase
                     activators and Myotubularins (PH-GRAM) domain; cd13341"
                     /db_xref="CDD:270149"
     Region          169..485
                     /region_name="PTP-MTMR3"
                     /note="protein tyrosine phosphatase-like domain of
                     myotubularin related phosphoinositide phosphatase 3;
                     cd14586"
                     /db_xref="CDD:350434"
     Region          1018..1059
                     /region_name="Csm1_N"
                     /note="Csm1 N-terminal domain; pfam18504"
                     /db_xref="CDD:375930"
     Region          1078..1138
                     /region_name="FYVE_MTMR3"
                     /note="FYVE domain found in myotubularin-related protein 3
                     (MTMR3) and similar proteins; cd15732"
                     /db_xref="CDD:277271"
     Site            order(1079,1082,1100..1105,1107..1108,1132..1134)
                     /site_type="other"
                     /note="putative phosphatidylinositol 3-phosphate binding
                     site [chemical binding]"
                     /db_xref="CDD:277271"
     CDS             1..1161
                     /gene="MTMR3"
                     /gene_synonym="FYVE-DSP1; ZFYVE10"
                     /coded_by="NM_153051.3:324..3809"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS46682.1"
                     /db_xref="GeneID:8897"
                     /db_xref="HGNC:HGNC:7451"
                     /db_xref="MIM:603558"
ORIGIN      
        1 mdeetrhsle ciqanqifpr kqliredenl qvpflelhge stefvgraed aiialsnyrl
       61 hikfkeslvn vplqliesve crdifqlhlt ckdckvircq fstfeqcqew lkrlnnairp
      121 pakiedlfsf ayhawcmevy asekeqhgdl crpgehvtsr fknevermgf dmnnawrisn
      181 inekyklcgs ypqelivpaw itdkelesvs sfrswkripa viyrhqsnga viarcgqpev
      241 swwgwrnadd ehlvqsvaka casdsrssgs klstrntsrd fpnggdlsdv efdsslsnas
      301 gaeslaiqpq kllildarsy aaavanrakg ggcecpeyyp ncevvfmgma nihsirrsfq
      361 slrllctqmp dpgnwlsale stkwlhhlsv llksallvvh avdqdqrpvl vhcsdgwdrt
      421 pqivalakll ldpyyrtieg fqvlvemewl dfghkfadrc ghgensddln ercpvflqwl
      481 dcvhqlqrqf pcsfefneaf lvklvqhtys clfgtflcnn akergekhtq ertcsvwsll
      541 ragnkafknl lyssqseavl ypvchvrnlm lwsavylpcp spttpvddsc apypapgtsp
      601 ddpplsrlpk trsydnltta cdntvplasr rcsdpslnek wqehrrslel sslagpgedp
      661 lsadslgkpt rvpggaelsv aagvaegqme nilqeatkee sgveepahra gieiqegked
      721 pllekesrrk tpeasaiglh qdpelgdaal rshldmswpl fsqgiseqqs glsvllsslq
      781 vpprgedsle vpveqfriee iaegreeavl pipvdakvgy gtsqscsllp sqvpfetrgp
      841 nvdsstdmlv edkvksvsgp qghhrsclvn sgkdrlpqtm epspsetslv erpqvgsvvh
      901 rtslgstlsl trspcalpla eckeglvcng apetenrase qppglstlqm yptpnghcan
      961 geagrskdsl srqlsamscs sahlhsrnlh hkwlhshsgr psatsspdqp srshldddgm
     1021 svytdtiqqr lrqiesghqq evetlkkqvq elksrlesqy ltsslhfngd fgdevmtrwl
     1081 pdhlaahcya cdsafwlasr khhcrncgnv fcssccnqkv pvpsqqlfep srvckscyss
     1141 lhptsssidl eldkpiaats n
//
LOCUS       NP_001350425            1122 aa            linear   PRI 10-APR-2023
DEFINITION  replication factor C subunit 1 isoform 4 [Homo sapiens].
ACCESSION   NP_001350425 XP_011512032
VERSION     NP_001350425.1
DBSOURCE    REFSEQ: accession NM_001363496.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1122)
  AUTHORS   Ylikotila P, Sipila J, Alapirtti T, Ahmasalo R, Koshimizu E,
            Miyatake S, Hurme-Niiranen A, Siitonen A, Doi H, Tanaka F,
            Matsumoto N, Majamaa K and Kytovuori L.
  TITLE     Association of biallelic RFC1 expansion with early-onset
            Parkinson's disease
  JOURNAL   Eur J Neurol 30 (5), 1256-1261 (2023)
   PUBMED   36705320
  REMARK    GeneRIF: Association of biallelic RFC1 expansion with early-onset
            Parkinson's disease.
REFERENCE   2  (residues 1 to 1122)
  AUTHORS   Arteche-Lopez A, Avila-Fernandez A, Damian A, Soengas-Gonda E, de
            la Fuente RP, Gomez PR, Merlo JG, Burgos LH, Fernandez CC, Rosales
            JML, Martinez JFG, Quesada-Espinosa JF, Corton M and
            Guerrero-Molina MP.
  TITLE     New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome
            cases are caused by the presence of a nonsense variant in compound
            heterozygosity with the pathogenic repeat expansion in the RFC1
            gene
  JOURNAL   Clin Genet 103 (2), 236-241 (2023)
   PUBMED   36250766
  REMARK    GeneRIF: New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia
            Syndrome cases are caused by the presence of a nonsense variant in
            compound heterozygosity with the pathogenic repeat expansion in the
            RFC1 gene.
REFERENCE   3  (residues 1 to 1122)
  AUTHORS   Ronco R, Perini C, Curro R, Dominik N, Facchini S, Gennari A,
            Simone R, Stuart S, Nagy S, Vegezzi E, Quartesan I, El-Saddig A,
            Lavin T, Tucci A, Szymura A, Novis De Farias LE, Gary A, Delfeld M,
            Kandikatla P, Niu N, Tawde S, Shaw J, Polke J, Reilly MM, Wood NW,
            Crespan E, Gomez C, Chen JYH, Schmahmann JD, Gosal D, Houlden H,
            Das S and Cortese A.
  TITLE     Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and
            Vestibular Areflexia Syndrome
  JOURNAL   Neurology 100 (5), e543-e554 (2023)
   PUBMED   36289003
  REMARK    GeneRIF: Truncating Variants in RFC1 in Cerebellar Ataxia,
            Neuropathy, and Vestibular Areflexia Syndrome.
REFERENCE   4  (residues 1 to 1122)
  AUTHORS   Halder P, Pal U, Ganguly A, Ghosh P, Ray A, Sarkar S and Ghosh S.
  TITLE     Genetic aetiology of Down syndrome birth: novel variants of
            maternal DNMT3B and RFC1 genes increase risk of meiosis II
            nondisjunction in the oocyte
  JOURNAL   Mol Genet Genomics 298 (1), 293-313 (2023)
   PUBMED   36447056
REFERENCE   5  (residues 1 to 1122)
  AUTHORS   Lu Y and Riegel AT.
  TITLE     The human DNA-binding protein, PO-GA, is homologous to the large
            subunit of mouse replication factor C: regulation by alternate 3'
            processing of mRNA
  JOURNAL   Gene 145 (2), 261-265 (1994)
   PUBMED   7914507
REFERENCE   6  (residues 1 to 1122)
  AUTHORS   Luckow B, Bunz F, Stillman B, Lichter P and Schutz G.
  TITLE     Cloning, expression, and chromosomal localization of the
            140-kilodalton subunit of replication factor C from mice and humans
  JOURNAL   Mol Cell Biol 14 (3), 1626-1634 (1994)
   PUBMED   8114700
REFERENCE   7  (residues 1 to 1122)
  AUTHORS   Bunz F, Kobayashi R and Stillman B.
  TITLE     cDNAs encoding the large subunit of human replication factor C
  JOURNAL   Proc Natl Acad Sci U S A 90 (23), 11014-11018 (1993)
   PUBMED   8248204
REFERENCE   8  (residues 1 to 1122)
  AUTHORS   Lu Y, Zeft AS and Riegel AT.
  TITLE     Cloning and expression of a novel human DNA binding protein, PO-GA
  JOURNAL   Biochem Biophys Res Commun 193 (2), 779-786 (1993)
   PUBMED   8512577
REFERENCE   9  (residues 1 to 1122)
  AUTHORS   Cortese,A., Reilly,M.M. and Houlden,H.
  TITLE     RFC1 CANVAS / Spectrum Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   33237689
REFERENCE   10 (residues 1 to 1122)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC023135.6 and AC093855.3.
            On May 19, 2018 this sequence version replaced XP_011512032.1.
            
            Summary: This gene encodes the large subunit of replication factor
            C, a five subunit DNA polymerase accessory protein, which is a
            DNA-dependent ATPase required for eukaryotic DNA replication and
            repair. The large subunit acts as an activator of DNA polymerases,
            binds to the 3' end of primers, and promotes coordinated synthesis
            of both strands. It may also have a role in telomere stability.
            Alternatively spliced transcript variants encoding different
            isoforms have been noted for this gene. [provided by RefSeq, Mar
            2011].
            
            Transcript Variant: This variant (4) has multiple differences in
            the coding region compared to variant 1, resulting in an isoform
            (4) that is shorter than isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.9778.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1122
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p14"
     Protein         1..1122
                     /product="replication factor C subunit 1 isoform 4"
                     /note="replication factor C1; MHC binding factor, beta; A1
                     140 kDa subunit; RF-C 140 kDa subunit; activator 1 subunit
                     1; DNA-binding protein PO-GA; activator 1 large subunit;
                     activator 1 140 kDa subunit; replication factor C large
                     subunit; replication factor C 140 kDa subunit; replication
                     factor C (activator 1) 1, 145kDa"
                     /calculated_mol_wt=124984
     Region          <14..378
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          246..476
                     /region_name="COG5275"
                     /note="BRCT domain type II [General function prediction
                     only]"
                     /db_xref="CDD:227600"
     Region          376..454
                     /region_name="BRCT_RFC1"
                     /note="BRCT domain of replication factor C subunit 1
                     (RFC1) and similar proteins; cd17752"
                     /db_xref="CDD:349383"
     Site            order(388..390,397,410..414,426..432,435)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:349383"
     Region          558..>977
                     /region_name="PRK04195"
                     /note="replication factor C large subunit; Provisional"
                     /db_xref="CDD:235250"
     Region          889..1042
                     /region_name="RFC1"
                     /note="Replication factor RFC1 C terminal domain;
                     pfam08519"
                     /db_xref="CDD:430049"
     CDS             1..1122
                     /gene="RFC1"
                     /gene_synonym="A1; CANVAS; MHCBFB; PO-GA; RECC1; RFC;
                     RFC140"
                     /coded_by="NM_001363496.2:122..3490"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:5981"
                     /db_xref="HGNC:HGNC:9969"
                     /db_xref="MIM:102579"
ORIGIN      
        1 mdirkffgvi psgkklvset vkknektksd eetlkakkgi keikvnssrk eddfkqkqps
       61 kkkriiydsd seseetlqvk nakkppeklp vsskpgkisr qdpvtyiset deeddfmckk
      121 aaskskengr stnshlgtsn mkkneentkt knkplspikl tptsvldyfg tgsvqrsnkk
      181 mvaskrkels qntdesglnd eaiakqlqld edaearkdte agetfssvqa nlskaekhky
      241 phkvktaqvs derksysprk qskyesskes qqhskssadk igevsspkas sklaimkrke
      301 essykeiepv askrkenaik lkgetktpkk tksspakkes vspedsekkr tnyqayrsyl
      361 nregpkalgs keipkgaenc leglifvitg vlesierdea kslieryggk vtgnvskktn
      421 ylvmgrdsgq sksdkaaalg tkiidedgll nlirtmpgkk skyeiavete mkkesklert
      481 pqknvqgkrk ispskkeses kksrptskrd slaktikket dvfwksldfk eqvaeetsgd
      541 skarnladds senkvenllw vdkykptslk tiigqqgdqs cankllrwlr nwqksssedk
      601 khaakfgkfs gkddgssfka allsgppgvg ktttaslvcq elgysyveln asdtrskssl
      661 kaivaeslnn tsikgfysng aassvstkha limdevdgma gnedrggiqe liglikhtki
      721 piicmcndrn hpkirslvhy cfdlrfqrpr veqikgamms iafkeglkip ppamneiilg
      781 anqdirqvlh nlsmwcarsk altydqakad shrakkdikm gpfdvarkvf aageetahms
      841 lvdksdlffh dysiaplfvq enyihvkpva aggdmkkhlm llsraadsic dgdlvdsqir
      901 skqnwsllpa qaiyasvlpg elmrgymtqf ptfpswlgkh sstgkhdriv qdlalhmslr
      961 tysskrtvnm dylsllrdal vqpltsqgvd gvqdvvalmd tyylmkedfe nimeisswgg
     1021 kpspfskldp kvkaaftray nkeahltpys lqaikasrhs tspsldseyn eelneddsqs
     1081 dekdqdaiet damikkktks skpskpekdk eprkgkgkss kk
//
LOCUS       NP_001305720             784 aa            linear   PRI 10-APR-2023
DEFINITION  toll-like receptor 2 precursor [Homo sapiens].
ACCESSION   NP_001305720 XP_005263253
VERSION     NP_001305720.1
DBSOURCE    REFSEQ: accession NM_001318791.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 784)
  AUTHORS   Majewski M, Torres K, Mertowska P, Mertowski S, Korona-Glowniak I,
            Korulczyk J, Zgodzinski W and Grywalska E.
  TITLE     Could Toll-like Receptor 2 Serve as Biomarker to Detect Advanced
            Gastric Cancer?
  JOURNAL   Int J Mol Sci 24 (6), 5824 (2023)
   PUBMED   36982898
  REMARK    GeneRIF: Could Toll-like Receptor 2 Serve as Biomarker to Detect
            Advanced Gastric Cancer?
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 784)
  AUTHORS   Klatka M, Polak A, Mertowska P, Mertowski S, Lyczba J, Hymos A,
            Korona-Glowniak I and Grywalska E.
  TITLE     The Role of Toll-like Receptor 2 (TLR2) in the Development and
            Progression of Hashimoto's Disease (HD): A Case Study on Female
            Patients in Poland
  JOURNAL   Int J Mol Sci 24 (6), 5344 (2023)
   PUBMED   36982416
  REMARK    GeneRIF: The Role of Toll-like Receptor 2 (TLR2) in the Development
            and Progression of Hashimoto's Disease (HD): A Case Study on Female
            Patients in Poland.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 784)
  AUTHORS   Bai Q, Zhang X, Wang W, Zhang H and He S.
  TITLE     [Detection and analysis of TLR2 expression on blood monocytes and B
            cells in patients with allergic rhinitis and asthma]
  JOURNAL   Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 39 (3), 193-198 (2023)
   PUBMED   36946342
  REMARK    GeneRIF: [Detection and analysis of TLR2 expression on blood
            monocytes and B cells in patients with allergic rhinitis and
            asthma].
REFERENCE   4  (residues 1 to 784)
  AUTHORS   Jin MS, Kim SE, Heo JY, Lee ME, Kim HM, Paik SG, Lee H and Lee JO.
  TITLE     Crystal structure of the TLR1-TLR2 heterodimer induced by binding
            of a tri-acylated lipopeptide
  JOURNAL   Cell 130 (6), 1071-1082 (2007)
   PUBMED   17889651
  REMARK    GeneRIF: Propose that formation of the TLR1-TLR2 heterodimer brings
            the intracellular TIR domains close to each other to promote
            dimerization and initiate signaling.
REFERENCE   5  (residues 1 to 784)
  AUTHORS   Haehnel V, Schwarzfischer L, Fenton MJ and Rehli M.
  TITLE     Transcriptional regulation of the human toll-like receptor 2 gene
            in monocytes and macrophages
  JOURNAL   J Immunol 168 (11), 5629-5637 (2002)
   PUBMED   12023360
REFERENCE   6  (residues 1 to 784)
  AUTHORS   Aliprantis AO, Yang RB, Mark MR, Suggett S, Devaux B, Radolf JD,
            Klimpel GR, Godowski P and Zychlinsky A.
  TITLE     Cell activation and apoptosis by bacterial lipoproteins through
            toll-like receptor-2
  JOURNAL   Science 285 (5428), 736-739 (1999)
   PUBMED   10426996
REFERENCE   7  (residues 1 to 784)
  AUTHORS   Yoshimura A, Lien E, Ingalls RR, Tuomanen E, Dziarski R and
            Golenbock D.
  TITLE     Cutting edge: recognition of Gram-positive bacterial cell wall
            components by the innate immune system occurs via Toll-like
            receptor 2
  JOURNAL   J Immunol 163 (1), 1-5 (1999)
   PUBMED   10384090
REFERENCE   8  (residues 1 to 784)
  AUTHORS   Yang RB, Mark MR, Gray A, Huang A, Xie MH, Zhang M, Goddard A, Wood
            WI, Gurney AL and Godowski PJ.
  TITLE     Toll-like receptor-2 mediates lipopolysaccharide-induced cellular
            signalling
  JOURNAL   Nature 395 (6699), 284-288 (1998)
   PUBMED   9751057
REFERENCE   9  (residues 1 to 784)
  AUTHORS   Chaudhary PM, Ferguson C, Nguyen V, Nguyen O, Massa HF, Eby M,
            Jasmin A, Trask BJ, Hood L and Nelson PS.
  TITLE     Cloning and characterization of two Toll/Interleukin-1
            receptor-like genes TIL3 and TIL4: evidence for a multi-gene
            receptor family in humans
  JOURNAL   Blood 91 (11), 4020-4027 (1998)
   PUBMED   9596645
REFERENCE   10 (residues 1 to 784)
  AUTHORS   Rock FL, Hardiman G, Timans JC, Kastelein RA and Bazan JF.
  TITLE     A family of human receptors structurally related to Drosophila Toll
  JOURNAL   Proc Natl Acad Sci U S A 95 (2), 588-593 (1998)
   PUBMED   9435236
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF424052.1, BC033756.1,
            AK125659.1, CB528396.1, AW614989.1 and BQ017238.1.
            On Jan 14, 2016 this sequence version replaced XP_005263253.1.
            
            Summary: The protein encoded by this gene is a member of the
            Toll-like receptor (TLR) family which plays a fundamental role in
            pathogen recognition and activation of innate immunity. TLRs are
            highly conserved from Drosophila to humans and share structural and
            functional similarities. This protein is a cell-surface protein
            that can form heterodimers with other TLR family members to
            recognize conserved molecules derived from microorganisms known as
            pathogen-associated molecular patterns (PAMPs). Activation of TLRs
            by PAMPs leads to an up-regulation of signaling pathways to
            modulate the host's inflammatory response. This gene is also
            thought to promote apoptosis in response to bacterial lipoproteins.
            This gene has been implicated in the pathogenesis of several
            autoimmune diseases. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (5) differs in the 5' UTR compared
            to variant 1. Variants 1-8 all encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.392099.1,
                                           SRR14038193.4276577.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..784
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.3"
     Protein         1..784
                     /product="toll-like receptor 2 precursor"
                     /EC_number="3.2.2.6"
                     /note="toll/interleukin-1 receptor-like protein 4"
                     /calculated_mol_wt=87516
     sig_peptide     1..20
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O60603.1)"
                     /calculated_mol_wt=2340
     mat_peptide     21..784
                     /product="Toll-like receptor 2. /id=PRO_0000034710"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
                     /calculated_mol_wt=87516
     Region          54..77
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          54..77
                     /region_name="LRR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          57..>209
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          77..135
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          78..101
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          78..101
                     /region_name="LRR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          102..125
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          102..125
                     /region_name="LRR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Site            114
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15173186,
                     ECO:0000269|PubMed:17889651; propagated from
                     UniProtKB/Swiss-Prot (O60603.1)"
     Region          126..150
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          126..150
                     /region_name="LRR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          151..175
                     /region_name="LRR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          176..199
                     /region_name="LRR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          176..196
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Site            199
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15173186,
                     ECO:0000269|PubMed:17889651; propagated from
                     UniProtKB/Swiss-Prot (O60603.1)"
     Region          200..223
                     /region_name="LRR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          224..250
                     /region_name="LRR 8"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          251..278
                     /region_name="LRR 9"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          279..308
                     /region_name="LRR 10"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          309..337
                     /region_name="LRR 11"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          <324..>558
                     /region_name="PRK15370"
                     /note="type III secretion system effector E3 ubiquitin
                     transferase SlrP"
                     /db_xref="CDD:185268"
     Region          338..361
                     /region_name="LRR 12"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Site            349
                     /site_type="other"
                     /note="Interaction with bacterial lipopeptide; propagated
                     from UniProtKB/Swiss-Prot (O60603.1)"
     Region          362..388
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          362..388
                     /region_name="LRR 13"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          389..414
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          389..414
                     /region_name="LRR 14"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Site            414
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17889651; propagated from
                     UniProtKB/Swiss-Prot (O60603.1)"
     Region          415..437
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          415..437
                     /region_name="LRR 15"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          438..478
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          438..457
                     /region_name="LRR 16"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Site            442
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15173186,
                     ECO:0000269|PubMed:17889651; propagated from
                     UniProtKB/Swiss-Prot (O60603.1)"
     Region          458..478
                     /region_name="LRR 17"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          479..500
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          479..500
                     /region_name="LRR 18"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          501..524
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          501..524
                     /region_name="LRR 19"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          533..586
                     /region_name="LRRCT"
                     /note="Leucine rich repeat C-terminal domain; smart00082"
                     /db_xref="CDD:214507"
     Site            589..609
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          640..784
                     /region_name="TIR"
                     /note="Toll - interleukin 1 - resistance; smart00255"
                     /db_xref="CDD:214587"
     Region          761..778
                     /region_name="ATG16L1-binding motif"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     CDS             1..784
                     /gene="TLR2"
                     /gene_synonym="CD282; TIL4"
                     /coded_by="NM_001318791.2:210..2564"
                     /db_xref="CCDS:CCDS3784.1"
                     /db_xref="GeneID:7097"
                     /db_xref="HGNC:HGNC:11848"
                     /db_xref="MIM:603028"
ORIGIN      
        1 mphtlwmvwv lgviislske essnqaslsc drngickgss gslnsipsgl teavksldls
       61 nnrityisns dlqrcvnlqa lvltsngint ieedsfsslg slehldlsyn ylsnlssswf
      121 kplssltfln llgnpyktlg etslfshltk lqilrvgnmd tftkiqrkdf agltfleele
      181 idasdlqsye pkslksiqnv shlilhmkqh illleifvdv tssveclelr dtdldtfhfs
      241 elstgetnsl ikkftfrnvk itdeslfqvm kllnqisgll elefddctln gvgnfrasdn
      301 drvidpgkve tltirrlhip rfylfydlst lysltervkr itvenskvfl vpcllsqhlk
      361 sleyldlsen lmveeylkns acedawpslq tlilrqnhla slektgetll tlknltnidi
      421 sknsfhsmpe tcqwpekmky lnlsstrihs vtgcipktle ildvsnnnln lfslnlpqlk
      481 elyisrnklm tlpdasllpm llvlkisrna ittfskeqld sfhtlktlea ggnnficsce
      541 flsftqeqqa lakvlidwpa nylcdspshv rgqqvqdvrl svsechrtal vsgmccalfl
      601 lilltgvlch rfhglwymkm mwawlqakrk prkapsrnic ydafvsyser daywvenlmv
      661 qelenfnppf klclhkrdfi pgkwiidnii dsiekshktv fvlsenfvks ewckyeldfs
      721 hfrlfdennd aailillepi ekkaipqrfc klrkimntkt ylewpmdeaq regfwvnlra
      781 aiks
//
LOCUS       NP_001287913             814 aa            linear   PRI 17-APR-2023
DEFINITION  P protein isoform 2 [Homo sapiens].
ACCESSION   NP_001287913 XP_005268316
VERSION     NP_001287913.1
DBSOURCE    REFSEQ: accession NM_001300984.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 814)
  AUTHORS   Bai M, Ke S, Yu H, Xu Y, Yu Y, Lu S, Wang C, Huang J, Ma Y, Dai W
            and Wu Y.
  TITLE     Key molecules associated with thyroid carcinoma prognosis: A study
            based on transcriptome sequencing and GEO datasets
  JOURNAL   Front Immunol 13, 964891 (2022)
   PUBMED   36059514
  REMARK    GeneRIF: Key molecules associated with thyroid carcinoma prognosis:
            A study based on transcriptome sequencing and GEO datasets.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 814)
  AUTHORS   Shakil M, Akbar A, Aisha NM, Hussain I, Ullah MI, Atif M, Kaul H,
            Amar A, Latif MZ, Qureshi MA and Mahmood S.
  TITLE     Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and
            HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani
            Families
  JOURNAL   Genes (Basel) 13 (3), 503 (2022)
   PUBMED   35328057
  REMARK    GeneRIF: Delineating Novel and Known Pathogenic Variants in TYR,
            OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA)
            Pakistani Families.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 814)
  AUTHORS   Suarez P, Baumer K and Hall D.
  TITLE     Further insight into the global variability of the OCA2-HERC2 locus
            for human pigmentation from multiallelic markers
  JOURNAL   Sci Rep 11 (1), 22530 (2021)
   PUBMED   34795370
  REMARK    GeneRIF: Further insight into the global variability of the
            OCA2-HERC2 locus for human pigmentation from multiallelic markers.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 814)
  AUTHORS   Lee ST, Nicholls RD, Jong MT, Fukai K and Spritz RA.
  TITLE     Organization and sequence of the human P gene and identification of
            a new family of transport proteins
  JOURNAL   Genomics 26 (2), 354-363 (1995)
   PUBMED   7601462
REFERENCE   5  (residues 1 to 814)
  AUTHORS   Rinchik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA,
            Avidano KM, Jong MT and Nicholls RD.
  TITLE     A gene for the mouse pink-eyed dilution locus and for human type II
            oculocutaneous albinism
  JOURNAL   Nature 361 (6407), 72-76 (1993)
   PUBMED   8421497
REFERENCE   6  (residues 1 to 814)
  AUTHORS   Thomas,M.G., Zippin,J. and Brooks,B.P.
  TITLE     Oculocutaneous Albinism and Ocular Albinism Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37053367
REFERENCE   7  (residues 1 to 814)
  AUTHORS   Lewis,R.A.
  TITLE     Oculocutaneous Albinism Type 2 - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301410
REFERENCE   8  (residues 1 to 814)
  AUTHORS   Ramsay M, Colman MA, Stevens G, Zwane E, Kromberg J, Farrall M and
            Jenkins T.
  TITLE     The tyrosinase-positive oculocutaneous albinism locus maps to
            chromosome 15q11.2-q12
  JOURNAL   Am J Hum Genet 51 (4), 879-884 (1992)
   PUBMED   1415228
REFERENCE   9  (residues 1 to 814)
  AUTHORS   Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA and
            Brilliant MH.
  TITLE     The mouse pink-eyed dilution gene: association with human
            Prader-Willi and Angelman syndromes
  JOURNAL   Science 257 (5073), 1121-1124 (1992)
   PUBMED   1509264
REFERENCE   10 (residues 1 to 814)
  AUTHORS   Ludowese CJ, Thompson KJ, Sekhon GS and Pauli RM.
  TITLE     Absence of predictable phenotypic expression in proximal 15q
            duplications
  JOURNAL   Clin Genet 40 (3), 194-201 (1991)
   PUBMED   1773534
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135329.12, BC012097.1,
            M99564.1 and BX398277.1.
            On Jul 17, 2014 this sequence version replaced XP_005268316.1.
            
            Summary: This gene encodes the human homolog of the mouse p
            (pink-eyed dilution) gene. The encoded protein is believed to be an
            integral membrane protein involved in small molecule transport,
            specifically tyrosine, which is a precursor to melanin synthesis.
            It is involved in mammalian pigmentation, where it may control skin
            color variation and act as a determinant of brown or blue eye
            color. Mutations in this gene result in type 2 oculocutaneous
            albinism. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the central coding region, compared to variant 1, resulting
            in an isoform (2) that is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC012097.1, SRR14038196.2120555.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..814
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q12-q13.1"
     Protein         1..814
                     /product="P protein isoform 2"
                     /note="eye color 2 (central brown); hair color 3 (brown);
                     oculocutaneous albinism II (pink-eye dilution homolog,
                     mouse); eye color 3 (brown); melanocyte-specific
                     transporter protein; total brown iris pigmentation;
                     pink-eyed dilution protein homolog; P-protein"
                     /calculated_mol_wt=90389
     Region          338..805
                     /region_name="P_permease"
                     /note="Permease P (pink-eyed dilution). Mutations in the
                     human melanosomal P gene were responsible for classic
                     phenotype of oculocutaneous albinism type 2 (OCA2).
                     Although the precise function of the P protein is unknown,
                     it was predicted to regulate the...; cd01116"
                     /db_xref="CDD:238536"
     Site            order(342..345,361..378,401..417,419..436,441..464,
                     491..505,599..611,627..641,653..671,700..715,745..764,
                     790..802)
                     /site_type="other"
                     /note="transmembrane helices"
                     /db_xref="CDD:238536"
     CDS             1..814
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /coded_by="NM_001300984.2:114..2558"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS73701.1"
                     /db_xref="GeneID:4948"
                     /db_xref="HGNC:HGNC:8101"
                     /db_xref="MIM:611409"
ORIGIN      
        1 mhlegrdgrr ypgapavell qtsvpsglae lvagkrrlpr gaggadpshs cprgaagqss
       61 wapagqefas fltkgrshss lpqmsssrsk dscftentpl lrnslqekgs rcipvyhpef
      121 itaeesweds sadwerryll srevsglsas assekgdlld sphirlrlsk lrrcvqwlkv
      181 mglfafvvlc silfslypdq gklwqllals plenysvnls shvdstllqv dlagalvasg
      241 psrpgreehi vveltqadal gsrwrrpqqv thnwtvylnp rrsehsvmsr tfevltretv
      301 sisiraslqq tqavpllmah qylrgsvetq vtiatailag vyaliiferp slthvvewid
      361 fetlallfgm milvaifset gffdycavka yrlsrgrvwa miimlcliaa vlsafldnvt
      421 tmllftpvti rlcevlnldp rqvliaevif tniggaatai gdppnviivs nqelrkmgld
      481 fagftahmfi giclvllvcf pllrllywnr klynkepsei velkheihvw rltaqrispa
      541 sreetavrrl llgkvlaleh llarrlhtfh rqisqedknw etniqelqkk hrisdgilla
      601 kcltvlgfvi fmfflnsfvp gihldlgwia ilgaiwllil adihdfeiil hrvewatllf
      661 faalfvlmea lahlhlieyv geqtallikm vpeeqrliaa ivlvvwvsal asslidnipf
      721 tatmipvlln lshdpevglp applmyalaf gaclggngtl igasanvvca giaeqhgygf
      781 sfmeffrlgf pmmvvsctvg mcyllvahvv vgwn
//
LOCUS       NP_001300832             532 aa            linear   PRI 17-APR-2023
DEFINITION  nuclear factor erythroid 2-related factor 2 isoform 5 [Homo
            sapiens].
ACCESSION   NP_001300832
VERSION     NP_001300832.1
DBSOURCE    REFSEQ: accession NM_001313903.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 532)
  AUTHORS   Occhiuto CJ, Moerland JA, Leal AS, Gallo KA and Liby KT.
  TITLE     The Multi-Faceted Consequences of NRF2 Activation throughout
            Carcinogenesis
  JOURNAL   Mol Cells 46 (3), 176-186 (2023)
   PUBMED   36994476
  REMARK    GeneRIF: The Multi-Faceted Consequences of NRF2 Activation
            throughout Carcinogenesis.
            Review article
REFERENCE   2  (residues 1 to 532)
  AUTHORS   Hallis SP, Kim JM and Kwak MK.
  TITLE     Emerging Role of NRF2 Signaling in Cancer Stem Cell Phenotype
  JOURNAL   Mol Cells 46 (3), 153-164 (2023)
   PUBMED   36994474
  REMARK    GeneRIF: Emerging Role of NRF2 Signaling in Cancer Stem Cell
            Phenotype.
            Review article
REFERENCE   3  (residues 1 to 532)
  AUTHORS   Peng C, Li X, Ao F, Li T, Guo J, Liu J, Zhang X, Gu J, Mao J and
            Zhou B.
  TITLE     Mitochondrial ROS driven by NOX4 upregulation promotes
            hepatocellular carcinoma cell survival after incomplete
            radiofrequency ablation by inducing of mitophagy via Nrf2/PINK1
  JOURNAL   J Transl Med 21 (1), 218 (2023)
   PUBMED   36964576
  REMARK    GeneRIF: Mitochondrial ROS driven by NOX4 upregulation promotes
            hepatocellular carcinoma cell survival after incomplete
            radiofrequency ablation by inducing of mitophagy via Nrf2/PINK1.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 532)
  AUTHORS   Lin DW, Hsu YC, Chang CC, Hsieh CC and Lin CL.
  TITLE     Insights into the Molecular Mechanisms of NRF2 in Kidney Injury and
            Diseases
  JOURNAL   Int J Mol Sci 24 (7), 6053 (2023)
   PUBMED   37047024
  REMARK    GeneRIF: Insights into the Molecular Mechanisms of NRF2 in Kidney
            Injury and Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 532)
  AUTHORS   Porokhovnik LN, Pisarev VM, Chumachenko AG, Chudakova JM, Ershova
            ES, Veiko NN, Gorbachevskaya NL, Mamokhina UA, Sorokin AB, Basova
            AY, Lapshin MS, L Izhevskaya V and Kostyuk SV.
  TITLE     Association of NEF2L2 Rs35652124 Polymorphism with Nrf2 Induction
            and Genotoxic Stress Biomarkers in Autism
  JOURNAL   Genes (Basel) 14 (3), 718 (2023)
   PUBMED   36980990
  REMARK    GeneRIF: Association of NEF2L2 Rs35652124 Polymorphism with Nrf2
            Induction and Genotoxic Stress Biomarkers in Autism.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 532)
  AUTHORS   Itoh K, Wakabayashi N, Katoh Y, Ishii T, Igarashi K, Engel JD and
            Yamamoto M.
  TITLE     Keap1 represses nuclear activation of antioxidant responsive
            elements by Nrf2 through binding to the amino-terminal Neh2 domain
  JOURNAL   Genes Dev 13 (1), 76-86 (1999)
   PUBMED   9887101
REFERENCE   7  (residues 1 to 532)
  AUTHORS   Venugopal R and Jaiswal AK.
  TITLE     Nrf2 and Nrf1 in association with Jun proteins regulate antioxidant
            response element-mediated expression and coordinated induction of
            genes encoding detoxifying enzymes
  JOURNAL   Oncogene 17 (24), 3145-3156 (1998)
   PUBMED   9872330
REFERENCE   8  (residues 1 to 532)
  AUTHORS   Toki T, Itoh J, Kitazawa J, Arai K, Hatakeyama K, Akasaka J,
            Igarashi K, Nomura N, Yokoyama M, Yamamoto M and Ito E.
  TITLE     Human small Maf proteins form heterodimers with CNC family
            transcription factors and recognize the NF-E2 motif
  JOURNAL   Oncogene 14 (16), 1901-1910 (1997)
   PUBMED   9150357
REFERENCE   9  (residues 1 to 532)
  AUTHORS   Chan JY, Cheung MC, Moi P, Chan K and Kan YW.
  TITLE     Chromosomal localization of the human NF-E2 family of bZIP
            transcription factors by fluorescence in situ hybridization
  JOURNAL   Hum Genet 95 (3), 265-269 (1995)
   PUBMED   7868116
REFERENCE   10 (residues 1 to 532)
  AUTHORS   Moi P, Chan K, Asunis I, Cao A and Kan YW.
  TITLE     Isolation of NF-E2-related factor 2 (Nrf2), a NF-E2-like basic
            leucine zipper transcriptional activator that binds to the tandem
            NF-E2/AP1 repeat of the beta-globin locus control region
  JOURNAL   Proc Natl Acad Sci U S A 91 (21), 9926-9930 (1994)
   PUBMED   7937919
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079305.6 and BP228042.1.
            
            Summary: This gene encodes a transcription factor which is a member
            of a small family of basic leucine zipper (bZIP) proteins. The
            encoded transcription factor regulates genes which contain
            antioxidant response elements (ARE) in their promoters; many of
            these genes encode proteins involved in response to injury and
            inflammation which includes the production of free radicals.
            Multiple transcript variants encoding different isoforms have been
            characterized for this gene. [provided by RefSeq, Sep 2015].
            
            Transcript Variant: This variant (7) uses an alternate in-frame
            splice site in the 3' coding region compared to variant 1. The
            resulting isoform (5) is shorter compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.4118107.1, BP228042.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..532
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.2"
     Protein         1..532
                     /product="nuclear factor erythroid 2-related factor 2
                     isoform 5"
                     /note="nuclear factor erythroid 2-related factor 2;
                     nuclear factor erythroid-derived 2-like 2; nuclear factor,
                     erythroid 2 like 2"
                     /calculated_mol_wt=58993
     Region          421..488
                     /region_name="bZIP_NFE2-like"
                     /note="Basic leucine zipper (bZIP) domain of Nuclear
                     Factor, Erythroid-derived 2 (NFE2) and similar proteins: a
                     DNA-binding and dimerization domain; cd14720"
                     /db_xref="CDD:269868"
     Region          422..484
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:269868"
     Site            order(430..431,433..435,437..442,444..446)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:269868"
     Site            order(445,448..449,452..453,455..456,459..460,462..463,
                     466..467,469..470,473..474,476..477)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:269868"
     CDS             1..532
                     /gene="NFE2L2"
                     /gene_synonym="HEBP1; IMDDHH; Nrf-2; NRF2"
                     /coded_by="NM_001313903.2:152..1750"
                     /note="isoform 5 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS92904.1"
                     /db_xref="GeneID:4780"
                     /db_xref="HGNC:HGNC:7782"
                     /db_xref="MIM:600492"
ORIGIN      
        1 mmdlelpppg lpsqqdmdli dilwrqdidl gvahipksda lyfddcmqll aqtfpfvddn
       61 evssatfqsl vpdipghies pvfiatnqaq spetsvaqva pvdldgmqqd ieqvweells
      121 ipelqclnie ndklvettmv pspeakltev dnyhfyssip smekevgncs phflnafeds
      181 fssilstedp nqltvnslns datvntdfgd efysafiaep sisnsmpspa tlshslsell
      241 ngpidvsdls lckafnqnhp estaefndsd sgislntsps vaspehsves ssygdtllgl
      301 sdseveelds apgsvkqngp ktpvhssgdm vqplspsqgq sthvhdaqce ntpekelpvs
      361 pghrktpftk dkhssrleah ltrdelraka lhipfpveki inlpvvdfne mmskeqfnea
      421 qlalirdirr rgknkvaaqn crkrkleniv eleqdldhlk dekekllkek gendkslhll
      481 kkqlstlyle vfsmlrdedg kpyspseysl qqtrdgnvfl vpkskkpdvk kn
//
LOCUS       NP_001269709             720 aa            linear   PRI 17-APR-2022
DEFINITION  ankyrin repeat and MYND domain-containing protein 1 isoform 4 [Homo
            sapiens].
ACCESSION   NP_001269709 XP_005247078
VERSION     NP_001269709.1
DBSOURCE    REFSEQ: accession NM_001282780.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 720)
  AUTHORS   Lutterbach B, Sun D, Schuetz J and Hiebert SW.
  TITLE     The MYND motif is required for repression of basal transcription
            from the multidrug resistance 1 promoter by the t(8;21) fusion
            protein
  JOURNAL   Mol Cell Biol 18 (6), 3604-3611 (1998)
   PUBMED   9584201
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC033495.1 and BC073146.1.
            On Sep 19, 2013 this sequence version replaced XP_005247078.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC073146.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..720
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     Protein         1..720
                     /product="ankyrin repeat and MYND domain-containing
                     protein 1 isoform 4"
                     /note="ankyrin repeat and MYND domain-containing protein
                     1; testis-specific ankyrin-like protein 1; zinc finger
                     MYND domain-containing protein 13"
                     /calculated_mol_wt=80152
     Region          85..>150
                     /region_name="PLN03185"
                     /note="phosphatidylinositol phosphate kinase; Provisional"
                     /db_xref="CDD:215619"
     Region          <166..>198
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          336..>410
                     /region_name="DUF2857"
                     /note="Protein of unknown function (DUF2857); pfam11198"
                     /db_xref="CDD:431719"
     Region          388..473
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          409..435
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(410..411,414..416,418..419,423,426,435,437,442,
                     446..447,454..456,457..458,462,465,474,476,518,522..523,
                     526..528,530..531,535,538)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          437..474
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          476..541
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          517..543
                     /region_name="Ank"
                     /note="Ankyrin repeat; pfam00023"
                     /db_xref="CDD:425426"
     Region          659..699
                     /region_name="zf-MYND"
                     /note="MYND finger; pfam01753"
                     /db_xref="CDD:426410"
     CDS             1..720
                     /gene="ANKMY1"
                     /gene_synonym="ZMYND13"
                     /coded_by="NM_001282780.2:126..2288"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS63184.1"
                     /db_xref="GeneID:51281"
                     /db_xref="HGNC:HGNC:20987"
ORIGIN      
        1 megahaslsl edevsgagsr qrplegkgge tpaaeepgsl knyavfatrd vsaapekeee
       61 eaegplraqd lresyiqlvq gvqewqdgcm yqgefglnmk lgygkfswpt gesyhgqfyr
      121 dhchglgtym wpdgssftgt fylshregyg tmymktrlfq thchndivnl lldcgadvnk
      181 csdegltals mcfllhypaq sfkpnvaert ipepqeppkf pvvpilsssf mdtnleslyy
      241 evnvpsqgsy elrpppapll lprvsgsheg ghfqdtgqcg gsidhrsssl kgdsplvkgs
      301 lghvesgled vlgntdrgsl csaetkfesn vcvcdfsiel sqamlersaq shsllkmasp
      361 spctssfdkg tmrrmalsmi errkrwrtik lllrrgadpn lccvpmqvlf lavkagdvdg
      421 vrlllehgar tdicfppqls tltplhiaaa lpgeegvqiv elllhaitdv dakasdeddt
      481 ykpgkldllp sslklsnepg ppqayystdt alpeeggrta lhmaceredd nkidrlishg
      541 adilkpvmlr qgekeavgta vdygyfrffq drriarcpfh tlmpaeretf larkrlleym
      601 glqlrqavfa kesqwdptwl ylckraelip shrmkkkgps lprgldvkeq gqipffkfcy
      661 qcgrsigvrl lpcprcygil tcskycktka wtefhkkdcg dlvaivtqle qvsrrreefq
//
LOCUS       NP_001273406             216 aa            linear   PRI 21-APR-2022
DEFINITION  uncharacterized protein C21orf58 isoform 2 [Homo sapiens].
ACCESSION   NP_001273406
VERSION     NP_001273406.1
DBSOURCE    REFSEQ: accession NM_001286477.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 216)
  AUTHORS   Reymond A, Friedli M, Henrichsen CN, Chapot F, Deutsch S, Ucla C,
            Rossier C, Lyle R, Guipponi M and Antonarakis SE.
  TITLE     From PREDs and open reading frames to cDNA isolation: revisiting
            the human chromosome 21 transcription map
  JOURNAL   Genomics 78 (1-2), 46-54 (2001)
   PUBMED   11707072
REFERENCE   2  (residues 1 to 216)
  AUTHORS   Auffray C, Behar G, Bois F, Bouchier C, Da Silva C, Devignes MD,
            Duprat S, Houlgatte R, Jumeau MN, Lamy B et al.
  TITLE     [IMAGE: molecular integration of the analysis of the human genome
            and its expression]
  JOURNAL   C R Acad Sci III 318 (2), 263-272 (1995)
   PUBMED   7757816
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000471.2.
            
            Transcript Variant: This variant (5) uses alternate splice sites at
            the 5' terminal exon and an internal exon that results in
            translation initiation from an alternate start codon compared to
            variant 1. The resulting shorter isoform (2) has a distinct
            N-terminus compared to isoform 1. Variants 2-5 encode the same
            isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC044223.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..216
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..216
                     /product="uncharacterized protein C21orf58 isoform 2"
                     /note="uncharacterized protein C21orf58"
                     /calculated_mol_wt=22611
     Region          128..185
                     /region_name="DUF4587"
                     /note="Domain of unknown function (DUF4587); pfam15248"
                     /db_xref="CDD:434570"
     CDS             1..216
                     /gene="C21orf58"
                     /coded_by="NM_001286477.2:1122..1772"
                     /note="isoform 2 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS68229.1"
                     /db_xref="GeneID:54058"
                     /db_xref="HGNC:HGNC:1300"
ORIGIN      
        1 mailpgeapv pgpgwpepda ggasvalglp vpvcsssasa lqeqhlldel sraqawsgps
       61 rgalgsalpp elpptgilpt aspsplapdp priilptvpq ppatiiqqlp qqpliaqipp
      121 pqafptqrsg sikedmvell llqnaqvhql vlqnwmlkal ppalqdpphv pprvpraarp
      181 rlpavhhhhh hhhavwppga atvlqpapsl wtpgpp
//
LOCUS       NP_001229697             913 aa            linear   PRI 15-MAY-2022
DEFINITION  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform
            3 [Homo sapiens].
ACCESSION   NP_001229697
VERSION     NP_001229697.1
DBSOURCE    REFSEQ: accession NM_001242768.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 913)
  AUTHORS   Chen ZW, Hu JF, Wang ZW, Liao CY, Kang FP, Lin CF, Huang Y, Huang
            L, Tian YF and Chen S.
  TITLE     Circular RNA circ-MTHFD1L induces HR repair to promote gemcitabine
            resistance via the miR-615-3p/RPN6 axis in pancreatic ductal
            adenocarcinoma
  JOURNAL   J Exp Clin Cancer Res 41 (1), 153 (2022)
   PUBMED   35459186
  REMARK    GeneRIF: Circular RNA circ-MTHFD1L induces HR repair to promote
            gemcitabine resistance via the miR-615-3p/RPN6 axis in pancreatic
            ductal adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 913)
  AUTHORS   Sial N, Rehman JU, Saeed S, Ahmad M, Hameed Y, Atif M, Rehman A,
            Asif R, Ahmed H, Hussain MS, Khan MR, Ambreen A and Ambreen A.
  TITLE     Integrative analysis reveals methylenetetrahydrofolate
            dehydrogenase 1-like as an independent shared diagnostic and
            prognostic biomarker in five different human cancers
  JOURNAL   Biosci Rep 42 (1) (2022)
   PUBMED   34908119
  REMARK    GeneRIF: Integrative analysis reveals methylenetetrahydrofolate
            dehydrogenase 1-like as an independent shared diagnostic and
            prognostic biomarker in five different human cancers.
REFERENCE   3  (residues 1 to 913)
  AUTHORS   Wang L, Yang Y, Wang XM, Wang CQ, Zhang YM and Li BL.
  TITLE     MTHFD1L as a folate cycle enzyme correlates with prognostic outcome
            and its knockdown impairs cell invasive behaviors in osteosarcoma
            via mediating the AKT/mTOR pathway
  JOURNAL   J Recept Signal Transduct Res 40 (6), 584-590 (2020)
   PUBMED   32456526
  REMARK    GeneRIF: MTHFD1L as a folate cycle enzyme correlates with
            prognostic outcome and its knockdown impairs cell invasive
            behaviors in osteosarcoma via mediating the AKT/mTOR pathway.
REFERENCE   4  (residues 1 to 913)
  AUTHORS   Ali M, Lemonakis K, Wihlborg AK, Veskovski L, Turesson I, Mellqvist
            UH, Gullberg U, Hansson M and Nilsson B.
  TITLE     Sequence variation at the MTHFD1L-AKAP12 and FOPNL loci does not
            influence multiple myeloma survival in Sweden
  JOURNAL   Blood Cancer J 9 (8), 57 (2019)
   PUBMED   31363079
  REMARK    GeneRIF: Results together with the limitations of the original
            studies indicate that the reported associations between the MTHFD1L
            and FOPNL loci and MM survival are false positives due to a
            winner's curse effect.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 913)
  AUTHORS   Yang YS, Yuan Y, Hu WP, Shang QX and Chen LQ.
  TITLE     The role of mitochondrial folate enzyme MTHFD1L in esophageal
            squamous cell carcinoma
  JOURNAL   Scand J Gastroenterol 53 (5), 533-540 (2018)
   PUBMED   29171320
  REMARK    GeneRIF: MTHFD1L protein and RNA expression levels were
            significantly upregulated in esophageal squamous cell carcinoma
            tissue as compared with normal tissue. High expression of MTHFD1
            was also detected in two esophageal cancer cell lines (TE-1 and
            EC109).
REFERENCE   6  (residues 1 to 913)
  AUTHORS   Walkup AS and Appling DR.
  TITLE     Enzymatic characterization of human mitochondrial
            C1-tetrahydrofolate synthase
  JOURNAL   Arch Biochem Biophys 442 (2), 196-205 (2005)
   PUBMED   16171773
  REMARK    GeneRIF: Gene encodes the mitochondrial isozyme of
            C1-tetrahydrofolate (THF) synthase, a monofunctional enzyme
            containing formyl-THF synthetase activity.
REFERENCE   7  (residues 1 to 913)
  AUTHORS   Christensen KE, Patel H, Kuzmanov U, Mejia NR and MacKenzie RE.
  TITLE     Disruption of the mthfd1 gene reveals a monofunctional
            10-formyltetrahydrofolate synthetase in mammalian mitochondria
  JOURNAL   J Biol Chem 280 (9), 7597-7602 (2005)
   PUBMED   15611115
REFERENCE   8  (residues 1 to 913)
  AUTHORS   Sugiura T, Nagano Y, Inoue T and Hirotani K.
  TITLE     A novel mitochondrial C1-tetrahydrofolate synthetase is upregulated
            in human colon adenocarcinoma
  JOURNAL   Biochem Biophys Res Commun 315 (1), 204-211 (2004)
   PUBMED   15013446
REFERENCE   9  (residues 1 to 913)
  AUTHORS   Prasannan P, Pike S, Peng K, Shane B and Appling DR.
  TITLE     Human mitochondrial C1-tetrahydrofolate synthase: gene structure,
            tissue distribution of the mRNA, and immunolocalization in Chinese
            hamster ovary calls
  JOURNAL   J Biol Chem 278 (44), 43178-43187 (2003)
   PUBMED   12937168
  REMARK    GeneRIF: mitochondrial C1-tetrahydrofolate synthase gene structure
            and tissue distribution
REFERENCE   10 (residues 1 to 913)
  AUTHORS   Fountoulakis M, Gulesserian T and Lubec G.
  TITLE     Overexpression of C1-tetrahydrofolate synthase in fetal Down
            syndrome brain
  JOURNAL   J Neural Transm Suppl (67), 85-93 (2003)
   PUBMED   15068241
  REMARK    GeneRIF: Overexpression of C1-tetrahydrofolate synthase in fetal
            Down syndrome brain at the early second trimester may indicate
            abnormal folate metabolism and may reflect folate deficiency.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA195967.1, AK315378.1 and
            BC110319.1.
            
            Summary: The protein encoded by this gene is involved in the
            synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is
            important in the de novo synthesis of purines and thymidylate and
            in the regeneration of methionine from homocysteine. Several
            transcript variants encoding different isoforms have been found for
            this gene.[provided by RefSeq, Jun 2011].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (3)
            has a shorter and distinct N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.120835.1,
                                           SRR1803613.67464.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..913
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1"
     Protein         1..913
                     /product="monofunctional C1-tetrahydrofolate synthase,
                     mitochondrial isoform 3"
                     /EC_number="6.3.4.3"
                     /note="10-formyl-THF synthetase; formyltetrahydrofolate
                     synthetase domain containing 1; monofunctional
                     C1-tetrahydrofolate synthase, mitochondrial"
                     /calculated_mol_wt=99181
     Region          9..>223
                     /region_name="FolD"
                     /note="5,10-methylene-tetrahydrofolate
                     dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase
                     [Coenzyme transport and metabolism]; COG0190"
                     /db_xref="CDD:223268"
     Region          127..270
                     /region_name="NAD_bind_m-THF_DH_Cyclohyd_like"
                     /note="NAD(P) binding domain of methylene-tetrahydrofolate
                     dehydrogenase and methylene-tetrahydrofolate
                     dehydrogenase/cyclohydrolase; cd05212"
                     /db_xref="CDD:133451"
     Site            order(163..164,186..187,206,226)
                     /site_type="other"
                     /note="NAD(P) binding site [chemical binding]"
                     /db_xref="CDD:133451"
     Region          287..913
                     /region_name="PLN02759"
                     /note="Formate--tetrahydrofolate ligase"
                     /db_xref="CDD:178359"
     CDS             1..913
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS"
                     /coded_by="NM_001242768.2:27..2768"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS75536.1"
                     /db_xref="GeneID:25902"
                     /db_xref="HGNC:HGNC:21055"
                     /db_xref="MIM:611427"
ORIGIN      
        1 mqsrrarprr eviqnskevl sllqeknpaf kpvlaiiqag ddnlmqeinq nlaeeaglni
       61 thiclppdss eaeiideilk inedtrvhgl alqisenlfs nkvlnalkpe kdvdgvtdin
      121 lgklvrgdah ecfvspvaka vielleksvg vnldgkkilv vgahgsleaa lqclfqrkgs
      181 mtmsiqwktr qlqsklhead ivvlgspkpe eipltwiqpg ttvlncshdf lsgkvgcgsp
      241 rihfggliee ddvillaaal riqnmvssgr rwlreqqhrr wrlhclklqp lspvpsdiei
      301 srgqtpkavd vlakeiglla deieiygksk akvrlsvler lkdqadgkyv lvagitptpl
      361 gegkstvtig lvqaltahln vnsfaclrqp sqgptfgvkg gaagggyaqv ipmeefnlhl
      421 tgdihaitaa nnllaaaidt rilhentqtd kalynrlvpl vngvrefsei qlarlkklgi
      481 nktdpstlte eevskfarld idpstitwqr vldtndrflr kitigqgnte kghyrqaqfd
      541 iavaseimav laltdsladm karlgrmvva sdksgqpvta ddlgvtgalt vlmkdaikpn
      601 lmqtlegtpv fvhagpfani ahgnssvlad kialklvgee gfvvteagfg adigmekffn
      661 ikcrasglvp nvvvlvatvr alkmhgggps vtagvplkke yteeniqlva dgccnlqkqi
      721 qitqlfgvpv vvalnvfktd traeidlvce lakragafda vpcyhwsvgg kgsvdlarav
      781 reaaskrsrf qflydvqvpi vdkirtiaqa vygakdiels peaqakidry tqqgfgnlpi
      841 cmakthlsls hqpdkkgvpr dfilpisdvr asigagfiyp lvgtmstmpg lptrpcfydi
      901 dldteteqvk glf
//
LOCUS       NP_001278868            1214 aa            linear   PRI 14-DEC-2022
DEFINITION  methionine synthase isoform 2 [Homo sapiens].
ACCESSION   NP_001278868 XP_005273200
VERSION     NP_001278868.1
DBSOURCE    REFSEQ: accession NM_001291939.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1214)
  AUTHORS   Osunkalu VO, Ogbenna AA, Davies NO, Olowoselu FO, Aiyelokun OE,
            Akinsola OJ and Taiwo IA.
  TITLE     Assessment of MTR Rs1805087 SNP as Possible Modifier of Sickle Cell
            Disease Severity in a Nigerian Population
  JOURNAL   West Afr J Med 39 (11), 1198-1204 (2022)
   PUBMED   36455241
  REMARK    GeneRIF: Assessment of MTR Rs1805087 SNP as Possible Modifier of
            Sickle Cell Disease Severity in a Nigerian Population.
REFERENCE   2  (residues 1 to 1214)
  AUTHORS   Alkanli N, Ay A, Aydin PK and Cevik G.
  TITLE     Investigation of the relationship between MTRR A66G, MTR A2756G
            gene variations and cell anomalies in early diagnosis and
            progression of bladder cancer
  JOURNAL   Mol Biol Rep 49 (8), 7719-7729 (2022)
   PUBMED   35715601
  REMARK    GeneRIF: Investigation of the relationship between MTRR A66G, MTR
            A2756G gene variations and cell anomalies in early diagnosis and
            progression of bladder cancer.
REFERENCE   3  (residues 1 to 1214)
  AUTHORS   Liu W, Wang J and Chen LJ.
  TITLE     Association between MTR A2756G polymorphism and susceptibility to
            congenital heart disease: A meta-analysis
  JOURNAL   PLoS One 17 (7), e0270828 (2022)
   PUBMED   35802641
  REMARK    GeneRIF: Association between MTR A2756G polymorphism and
            susceptibility to congenital heart disease: A meta-analysis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1214)
  AUTHORS   Raina JK, Panjaliya RK, Dogra V, Sharma S, Anupriya and Kumar P.
  TITLE     'Association of MTHFR and MS/MTR gene polymorphisms with congenital
            heart defects in North Indian population (Jammu and Kashmir): a
            case-control study encompassing meta-analysis and trial sequential
            analysis'
  JOURNAL   BMC Pediatr 22 (1), 223 (2022)
   PUBMED   35468734
  REMARK    GeneRIF: ''Association of MTHFR and MS/MTR gene polymorphisms with
            congenital heart defects in North Indian population (Jammu and
            Kashmir): a case-control study encompassing meta-analysis and trial
            sequential analysis''.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1214)
  AUTHORS   Col B, Oltean S and Banerjee R.
  TITLE     Translational regulation of human methionine synthase by upstream
            open reading frames
  JOURNAL   Biochim Biophys Acta 1769 (9-10), 532-540 (2007)
   PUBMED   17683808
REFERENCE   6  (residues 1 to 1214)
  AUTHORS   Sloan,J.L., Carrillo,N., Adams,D. and Venditti,C.P.
  TITLE     Disorders of Intracellular Cobalamin Metabolism
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301503
REFERENCE   7  (residues 1 to 1214)
  AUTHORS   Garovic-Kocic V and Rosenblatt DS.
  TITLE     Methionine auxotrophy in inborn errors of cobalamin metabolism
  JOURNAL   Clin Invest Med 15 (4), 395-400 (1992)
   PUBMED   1516297
REFERENCE   8  (residues 1 to 1214)
  AUTHORS   Everman BW and Koblin DD.
  TITLE     Aging, chronic administration of ethanol, and acute exposure to
            nitrous oxide: effects on vitamin B12 and folate status in rats
  JOURNAL   Mech Ageing Dev 62 (3), 229-243 (1992)
   PUBMED   1583909
REFERENCE   9  (residues 1 to 1214)
  AUTHORS   O'Connor DL, Moriarty P and Picciano MF.
  TITLE     The impact of iron deficiency on the flux of folates within the
            mammary gland
  JOURNAL   Int J Vitam Nutr Res 62 (2), 173-180 (1992)
   PUBMED   1517041
REFERENCE   10 (residues 1 to 1214)
  AUTHORS   Vassiliadis A, Rosenblatt DS, Cooper BA and Bergeron JJ.
  TITLE     Lysosomal cobalamin accumulation in fibroblasts from a patient with
            an inborn error of cobalamin metabolism (cblF complementation
            group): visualization by electron microscope radioautography
  JOURNAL   Exp Cell Res 195 (2), 295-302 (1991)
   PUBMED   2070814
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC377743.1, BC144095.1,
            AL359259.18 and CB241165.1.
            On May 10, 2014 this sequence version replaced XP_005273200.1.
            
            Summary: This gene encodes the
            5-methyltetrahydrofolate-homocysteine methyltransferase. This
            enzyme, also known as cobalamin-dependent methionine synthase,
            catalyzes the final step in methionine biosynthesis. Mutations in
            MTR have been identified as the underlying cause of methylcobalamin
            deficiency complementation group G. Alternatively spliced
            transcript variants encoding distinct isoforms have been found for
            this gene. [provided by RefSeq, May 2014].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            central coding region, compared to variant 1. The resulting isoform
            (2) lacks an internal segment, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC144095.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            regulatory uORF :: PMID: 17683808
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1214
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q43"
     Protein         1..1214
                     /product="methionine synthase isoform 2"
                     /EC_number="2.1.1.13"
                     /note="5-methyltetrahydrofolate-homocysteine
                     methyltransferase 1; vitamin-B12 dependent methionine
                     synthase; cobalamin-dependent methionine synthase"
                     /calculated_mol_wt=134663
     Region          19..1210
                     /region_name="metH"
                     /note="B12-dependent methionine synthase; Provisional;
                     PRK09490"
                     /db_xref="CDD:236539"
     CDS             1..1214
                     /gene="MTR"
                     /gene_synonym="cblG; HMAG; MS"
                     /coded_by="NM_001291939.1:424..4068"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS73054.1"
                     /db_xref="GeneID:4548"
                     /db_xref="HGNC:HGNC:7468"
                     /db_xref="MIM:156570"
ORIGIN      
        1 mspalqdlsq peglkktlrd einailqkri mvldggmgtm iqreklneeh frgqefkdha
       61 rplkgnndil sitqpdviyq ihkeyllaga diietntfss tsiaqadygl ehlayrmnmc
      121 sagvarkaae evtlqtgikr fvagalgptn ktlsvspsve rpdyrnitfd elveayqeqa
      181 kglldggvdi llietifdta nakaalfalq nlfeekyapr pifisgtivd ksgrtlsgqt
      241 gegfvisvsh geplciglnc algaaemrpf ieiigkctta yvlcypnagl pntfgdydet
      301 psmmakhlkd famdglvniv ggccgstpdh ireiaeavkn ckprvppata feghmllsgl
      361 epfrigpytn fvnigercnv agsrkfakli magnyeealc vakvqvemga qvldvnmddg
      421 mldgpsamtr fcnliasepd iakvplcids snfavieagl kccqgkcivn sislkegedd
      481 flekarkikk ygaamvvmaf deegqatetd tkirvctray hllvkklgfn pndiifdpni
      541 ltigtgmeeh nlyainfiha tkviketlpg arisgglsnl sfsfrgmeai reamhgvfly
      601 haiksgmdmg ivnagnlpvy ddihkellql cedliwnkdp eatekllrya qtqgtggkkv
      661 iqtdewrngp veerleyalv kviksarvmk kavghlipfm ekereetrvl ngtveeedpy
      721 qgtivlatvk gdvhdigkni vgvvlgcnnf rvidlgvmtp cdkilkaald hkadiiglsg
      781 litpsldemi fvakemerla iriplligga ttskthtavk iaprysapvi hvldasksvv
      841 vcsqlldenl kdeyfeeime eyedirqdhy eslkerrylp lsqarksgfq mdwlsephpv
      901 kptfigtqvf edydlqklvd yidwkpffdv wqlrgkypnr gfpkifndkt vggearkvyd
      961 dahnmlntli sqkklrargv vgfwpaqsiq ddihlyaeaa vpqaaepiat fyglrqqaek
     1021 dsastepyyc lsdfiaplhs girdylglfa vacfgveels kayeddgddy ssimvkalgd
     1081 rlaeafaeel hervrrelwa ycgseqldva dlrrlrykgi rpapgypsqp dhtekltmwr
     1141 ladieqstgi rlteslamap asavsglyfs nlkskyfavg kiskdqvedy alrknisvae
     1201 vekwlgpilg ydtd
//
LOCUS       NP_002656                 96 aa            linear   PRI 17-DEC-2022
DEFINITION  plasminogen-like protein B precursor [Homo sapiens].
ACCESSION   NP_002656
VERSION     NP_002656.1
DBSOURCE    REFSEQ: accession NM_002665.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 96)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   2  (residues 1 to 96)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 96)
  AUTHORS   Tateno T and Ichinose A.
  TITLE     Expression of plasminogen-related gene B varies among normal
            tissues and increases in cancer tissues
  JOURNAL   FEBS Lett 445 (1), 31-35 (1999)
   PUBMED   10069369
REFERENCE   4  (residues 1 to 96)
  AUTHORS   Lewis VO, Gehrmann M, Weissbach L, Hyman JE, Rielly A, Jones DG,
            Llinas M and Schaller J.
  TITLE     Homologous plasminogen N-terminal and plasminogen-related gene A
            and B peptides. Characterization of cDNAs and recombinant fusion
            proteins
  JOURNAL   Eur J Biochem 259 (3), 618-625 (1999)
   PUBMED   10092845
REFERENCE   5  (residues 1 to 96)
  AUTHORS   Kida M, Wakabayashi S and Ichinose A.
  TITLE     Characterization of the 5'-flanking regions of plasminogen-related
            genes A and B
  JOURNAL   FEBS Lett 404 (1), 95-99 (1997)
   PUBMED   9074645
REFERENCE   6  (residues 1 to 96)
  AUTHORS   Magnaghi P, Citterio E, Malgaretti N, Acquati F, Ottolenghi S and
            Taramelli R.
  TITLE     Molecular characterisation of the human apo(a)-plasminogen gene
            family clustered on the telomeric region of chromosome 6 (6q26-27)
  JOURNAL   Hum Mol Genet 3 (3), 437-442 (1994)
   PUBMED   8012354
REFERENCE   7  (residues 1 to 96)
  AUTHORS   Weissbach L and Treadwell BV.
  TITLE     A plasminogen-related gene is expressed in cancer cells
  JOURNAL   Biochem Biophys Res Commun 186 (2), 1108-1114 (1992)
   PUBMED   1379800
REFERENCE   8  (residues 1 to 96)
  AUTHORS   Ichinose A.
  TITLE     Multiple members of the plasminogen-apolipoprotein(a) gene family
            associated with thrombosis
  JOURNAL   Biochemistry 31 (12), 3113-3118 (1992)
   PUBMED   1554698
REFERENCE   9  (residues 1 to 96)
  AUTHORS   Ichinose A, Espling ES, Takamatsu J, Saito H, Shinmyozu K, Maruyama
            I, Petersen TE and Davie EW.
  TITLE     Two types of abnormal genes for plasminogen in families with a
            predisposition for thrombosis
  JOURNAL   Proc Natl Acad Sci U S A 88 (1), 115-119 (1991)
   PUBMED   1986355
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1991 Apr 1;88(7):2967]
REFERENCE   10 (residues 1 to 96)
  AUTHORS   Frank SL, Klisak I, Sparkes RS and Lusis AJ.
  TITLE     A gene homologous to plasminogen located on human chromosome
            2q11-p11
  JOURNAL   Genomics 4 (3), 449-451 (1989)
   PUBMED   2714803
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093616.5 and BC005379.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M93143.2, BC005379.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2152719
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359481.9/ ENSP00000352458.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..96
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     Protein         1..96
                     /product="plasminogen-like protein B precursor"
                     /note="plasminogen pseudogene 1; type B plasminogen
                     related; plasminogen-related protein B; plasminogen-like
                     protein B; Plasminogen-like protein A; Plasminogen-like
                     protein A1; plasminogen-related protein A"
                     /calculated_mol_wt=8834
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2155
     Region          22..96
                     /region_name="PAN_AP_HGF"
                     /note="Subfamily of PAN/APPLE-like domains; present in
                     N-terminal (N) domains of plasminogen/hepatocyte growth
                     factor proteins, and various proteins found in Bilateria,
                     such as leech anti-platelet proteins. PAN/APPLE domains
                     fulfill diverse biological functions...; cd01099"
                     /db_xref="CDD:238532"
     Site            order(38,40,52)
                     /site_type="active"
                     /note="putative binding site [active]"
                     /db_xref="CDD:238532"
     CDS             1..96
                     /gene="PLGLB2"
                     /gene_synonym="PLGLA; PLGLA1; PLGP1; PLGP2; PRGA"
                     /coded_by="NM_002665.4:68..358"
                     /db_xref="CCDS:CCDS1999.1"
                     /db_xref="GeneID:5342"
                     /db_xref="HGNC:HGNC:9073"
ORIGIN      
        1 mehkevvlll llflksgqge plddyvntqg pslfsvtkkq lgagsreeca akceedkeft
       61 crafqyhske qqcvimaenr kssiiirmrd avlfek
//
LOCUS       NP_001273388             243 aa            linear   PRI 17-DEC-2022
DEFINITION  NEDD4-binding protein 2-like 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001273388
VERSION     NP_001273388.1
DBSOURCE    REFSEQ: accession NM_001286459.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 243)
  AUTHORS   Sasahira T, Kurihara M, Nishiguchi Y, Fujiwara R, Kirita T and
            Kuniyasu H.
  TITLE     NEDD 4 binding protein 2-like 1 promotes cancer cell invasion in
            oral squamous cell carcinoma
  JOURNAL   Virchows Arch 469 (2), 163-172 (2016)
   PUBMED   27184799
  REMARK    GeneRIF: Cox proportional hazards analysis identified N4BP2L1
            expression as an independent predictor of disease-free survival
REFERENCE   2  (residues 1 to 243)
  AUTHORS   Couch FJ, Rommens JM, Neuhausen SL, Belanger C, Dumont M, Abel K,
            Bell R, Berry S, Bogden R, Cannon-Albright L, Farid L, Frye C,
            Hattier T, Janecki T, Jiang P, Kehrer R, Leblanc JF,
            McArthur-Morrison J, Meney D, Miki Y, Peng Y, Samson C, Schroeder
            M, Snyder SC, Simard J et al.
  TITLE     Generation of an integrated transcription map of the BRCA2 region
            on chromosome 13q12-q13
  JOURNAL   Genomics 36 (1), 86-99 (1996)
   PUBMED   8812419
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI551105.1, AL049786.1, AL137247.14 and AI783635.1.
            
            Transcript Variant: This variant (3) contains an alternate exon
            structure in the 3' UTR, compared to variant 1. Variants 1 and 3
            both encode the same isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL049786.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..243
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.1"
     Protein         1..243
                     /product="NEDD4-binding protein 2-like 1 isoform 1"
                     /note="hypothetical gene CG018"
                     /calculated_mol_wt=28850
     Region          1..38
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TBK1.1)"
     Region          44..177
                     /region_name="AAA_33"
                     /note="AAA domain; pfam13671"
                     /db_xref="CDD:433395"
     CDS             1..243
                     /gene="N4BP2L1"
                     /gene_synonym="CG018"
                     /coded_by="NM_001286459.2:49..780"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS9345.2"
                     /db_xref="GeneID:90634"
                     /db_xref="HGNC:HGNC:25037"
ORIGIN      
        1 medsflqsfg rlslqpqqqq qrqrpprppp rgtpprrhsf rkhlyllrgl pgsgkttlar
       61 qlqhdfpral ifstddfffr edgayefnpd fleeahewnq krarkamrng ispiiidntn
      121 lhawemkpya vmalennyev ifrepdtrwk fnvqelarrn ihgvsrekih rmkeryehdv
      181 tfhsvlhaek psrmnrnqdr nnalpsnnar ywnsytefpn rrahggftne ssyhrrggch
      241 hgy
//
LOCUS       NP_201572                203 aa            linear   PRI 18-DEC-2022
DEFINITION  ras-like protein family member 10B [Homo sapiens].
ACCESSION   NP_201572
VERSION     NP_201572.1
DBSOURCE    REFSEQ: accession NM_033315.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 203)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 203)
  AUTHORS   Rybkin II, Kim MS, Bezprozvannaya S, Qi X, Richardson JA, Plato CF,
            Hill JA, Bassel-Duby R and Olson EN.
  TITLE     Regulation of atrial natriuretic peptide secretion by a novel
            Ras-like protein
  JOURNAL   J Cell Biol 179 (3), 527-537 (2007)
   PUBMED   17984325
  REMARK    GeneRIF: RRP17 is a component of the cellular machinery involved in
            regulated secretion within the heart and potential mediator of the
            endocrine influence of the heart on other tissues
REFERENCE   3  (residues 1 to 203)
  AUTHORS   Zou H, Hu L, Li J, Zhan S and Cao K.
  TITLE     Cloning and characterization of a novel small monomeric GTPase,
            RasL10B, with tumor suppressor potential
  JOURNAL   Biotechnol Lett 28 (23), 1901-1908 (2006)
   PUBMED   17028781
  REMARK    GeneRIF: RasL10B is a new member of Ras superfamily with tumor
            suppressor potential
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006237.1, AK122652.1, BC041133.1 and DA250459.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC041133.1, AK122652.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000603017.2/ ENSP00000474230.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..203
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     Protein         1..203
                     /product="ras-like protein family member 10B"
                     /EC_number="3.6.5.2"
                     /note="ras-like protein VTS58635; Ras-related protein 17;
                     alternative protein RASL10B"
                     /calculated_mol_wt=23098
     Region          1..203
                     /region_name="Small GTPase-like"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S79.1)"
     Region          5..203
                     /region_name="RRP22"
                     /note="Ras-related protein on chromosome 22 (RRP22)
                     family; cd04142"
                     /db_xref="CDD:133342"
     Site            11..18
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:133342"
     Site            order(12..13,61..62)
                     /site_type="other"
                     /note="putative GDI interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:133342"
     Site            order(13..19,59,62,128..129,131,159..160)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:133342"
     Site            order(18..19,33,35,42..43,56..57,59,61..62,161)
                     /site_type="other"
                     /note="putative GEF interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:133342"
     Region          33..42
                     /region_name="Effector region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S79.1)"
     Site            order(34..35,40..43)
                     /site_type="active"
                     /note="putative effector interaction site [active]"
                     /db_xref="CDD:133342"
     Site            order(34..38,40..42)
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:133342"
     Site            36
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:133342"
     Site            59..62
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:133342"
     Site            order(61..62,72..77,84..87)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:133342"
     Site            128..131
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:133342"
     Site            159..161
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:133342"
     Site            200..203
                     /site_type="other"
                     /note="putative lipid modification site [posttranslational
                     modification]"
                     /db_xref="CDD:133342"
     Site            200
                     /site_type="methylation"
                     /note="Cysteine methyl ester. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q96S79.1)"
     CDS             1..203
                     /gene="RASL10B"
                     /gene_synonym="RRP17; VTS58635"
                     /coded_by="NM_033315.4:388..999"
                     /db_xref="CCDS:CCDS11297.1"
                     /db_xref="GeneID:91608"
                     /db_xref="HGNC:HGNC:30295"
                     /db_xref="MIM:612128"
ORIGIN      
        1 mvstyrvavl gargvgksai vrqflynefs evcvpttarr lylpavvmng hvhdlqildf
       61 ppisafpvnt lqewadtccr glrsvhayil vydiccfdsf eyvktirqqi letrvigtse
      121 tpiiivgnkr dlqrgrvipr wnvshlvrkt wkcgyvecsa kynwhilllf sellksvgca
      181 rckhvhaalr fqgalrrnrc aim
//
LOCUS       NP_065126                373 aa            linear   PRI 18-DEC-2022
DEFINITION  peptidoglycan recognition protein 4 precursor [Homo sapiens].
ACCESSION   NP_065126
VERSION     NP_065126.2
DBSOURCE    REFSEQ: accession NM_020393.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 373)
  AUTHORS   Dabrowski AN, Shrivastav A, Conrad C, Komma K, Weigel M, Dietert K,
            Gruber AD, Bertrams W, Wilhelm J, Schmeck B, Reppe K, N'Guessan PD,
            Aly S, Suttorp N, Hain T and Zahlten J.
  TITLE     Peptidoglycan Recognition Protein 4 Limits Bacterial Clearance and
            Inflammation in Lungs by Control of the Gut Microbiota
  JOURNAL   Front Immunol 10, 2106 (2019)
   PUBMED   31616404
  REMARK    GeneRIF: Peptidoglycan Recognition Protein 4 Limits Bacterial
            Clearance and Inflammation in Lungs by Control of the Gut
            Microbiota.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 373)
  AUTHORS   Hua X, Yuan X, Li Z, Coursey TG, Pflugfelder SC and Li DQ.
  TITLE     A Novel Innate Response of Human Corneal Epithelium to Heat-killed
            Candida albicans by Producing Peptidoglycan Recognition Proteins
  JOURNAL   PLoS One 10 (6), e0128039 (2015)
   PUBMED   26039076
  REMARK    GeneRIF: a significant induction of three PGLYRPs 2-4 in primary
            human corneal epithelial cells (HCECs) exposed to live or
            heat-killed Candida albicans, is reported.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 373)
  AUTHORS   Goldman SM, Kamel F, Ross GW, Jewell SA, Marras C, Hoppin JA,
            Umbach DM, Bhudhikanok GS, Meng C, Korell M, Comyns K, Hauser RA,
            Jankovic J, Factor SA, Bressman S, Lyons KE, Sandler DP, Langston
            JW and Tanner CM.
  TITLE     Peptidoglycan recognition protein genes and risk of Parkinson's
            disease
  JOURNAL   Mov Disord 29 (9), 1171-1180 (2014)
   PUBMED   24838182
  REMARK    GeneRIF: This study demonistrated that PGLYRP4 single-nucleotide
            polymorphisms is risk of Parkinson's disease.
REFERENCE   4  (residues 1 to 373)
  AUTHORS   Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML and Seielstad M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 373)
  AUTHORS   Cho S, Wang Q, Swaminathan CP, Hesek D, Lee M, Boons GJ, Mobashery
            S and Mariuzza RA.
  TITLE     Structural insights into the bactericidal mechanism of human
            peptidoglycan recognition proteins
  JOURNAL   Proc Natl Acad Sci U S A 104 (21), 8761-8766 (2007)
   PUBMED   17502600
REFERENCE   6  (residues 1 to 373)
  AUTHORS   Lu X, Wang M, Qi J, Wang H, Li X, Gupta D and Dziarski R.
  TITLE     Peptidoglycan recognition proteins are a new class of human
            bactericidal proteins
  JOURNAL   J Biol Chem 281 (9), 5895-5907 (2006)
   PUBMED   16354652
  REMARK    GeneRIF: Results describe the function of mammalian antimicrobial
            peptidoglycan recognition proteins 3 and 4, and show that they are
            a new class of bactericidal and bacteriostatic proteins.
REFERENCE   7  (residues 1 to 373)
  AUTHORS   Sun C, Mathur P, Dupuis J, Tizard R, Ticho B, Crowell T, Gardner H,
            Bowcock AM and Carulli J.
  TITLE     Peptidoglycan recognition proteins Pglyrp3 and Pglyrp4 are encoded
            from the epidermal differentiation complex and are candidate genes
            for the Psors4 locus on chromosome 1q21
  JOURNAL   Hum Genet 119 (1-2), 113-125 (2006)
   PUBMED   16362825
  REMARK    GeneRIF: Data are consistent with previous reports of association
            of psoriasis with genes on 1q21, and suggest a role for Pglyrp4 in
            skin biology.
REFERENCE   8  (residues 1 to 373)
  AUTHORS   Liu C, Xu Z, Gupta D and Dziarski R.
  TITLE     Peptidoglycan recognition proteins: a novel family of four human
            innate immunity pattern recognition molecules
  JOURNAL   J Biol Chem 276 (37), 34686-34694 (2001)
   PUBMED   11461926
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292203.1, BC142636.1 and
            AF242518.1.
            On Dec 10, 2004 this sequence version replaced NP_065126.1.
            
            Summary: Summary: This gene encodes a peptidoglycan recognition
            protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2
            family. These proteins are part of the innate immune system and
            recognize peptidoglycan, a ubiquitous component of bacterial cell
            walls. This antimicrobial protein binds to murein peptidoglycans of
            Gram-positive bacteria. [provided by RefSeq, Oct 2014].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK292203.1, BC142636.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000359650.10/
                                                  ENSP00000352672.5
            Protein has antimicrobial activity :: PMID: 16354652
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..373
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..373
                     /product="peptidoglycan recognition protein 4 precursor"
                     /note="PGRP-I-beta; peptidoglycan recognition protein
                     I-beta; peptidoglycan recognition protein intermediate
                     beta"
                     /calculated_mol_wt=38736
     sig_peptide     1..17
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1902
     mat_peptide     18..373
                     /product="Peptidoglycan recognition protein 4.
                     /id=PRO_0000023924"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LB8.2)"
                     /calculated_mol_wt=38736
     Site            22
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96LB8.2)"
     Site            39
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96LB8.2)"
     Region          53..194
                     /region_name="PGRP"
                     /note="Animal peptidoglycan recognition proteins
                     homologous to Bacteriophage T3 lysozyme; smart00701"
                     /db_xref="CDD:128941"
     Site            order(82,117,201,208,210)
                     /site_type="active"
                     /note="amidase catalytic site [active]"
                     /db_xref="CDD:133475"
     Site            order(82,201,210)
                     /site_type="other"
                     /note="Zn binding residues [ion binding]"
                     /db_xref="CDD:133475"
     Site            order(83..84,111,117,131,138..139,144,201,205,208..210)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:133475"
     Site            109
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96LB8.2)"
     Site            145
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96LB8.2)"
     Region          211..351
                     /region_name="PGRP"
                     /note="Animal peptidoglycan recognition proteins
                     homologous to Bacteriophage T3 lysozyme; smart00701"
                     /db_xref="CDD:128941"
     Site            order(239,274,348,354,356)
                     /site_type="active"
                     /note="amidase catalytic site [active]"
                     /db_xref="CDD:133475"
     Site            order(239,348,356)
                     /site_type="other"
                     /note="Zn binding residues [ion binding]"
                     /db_xref="CDD:133475"
     Site            order(240..241,270,274,288,295..296,301,348,352,354..356)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:133475"
     Site            247
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96LB8.2)"
     Region          293..302
                     /region_name="Interaction with murein"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LB8.2)"
     Region          353..354
                     /region_name="Interaction with murein"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LB8.2)"
     CDS             1..373
                     /gene="PGLYRP4"
                     /gene_synonym="PGLYRPIbeta; PGRP-Ibeta; PGRPIB; SBBI67"
                     /coded_by="NM_020393.4:361..1482"
                     /db_xref="CCDS:CCDS30871.1"
                     /db_xref="GeneID:57115"
                     /db_xref="HGNC:HGNC:30015"
                     /db_xref="MIM:608198"
ORIGIN      
        1 mlpwllvfsa lgiqawgdss wnktqakqvs eglqylfeni sqltekglpt dvsttvsrka
       61 wgaeavgcsi qlttpvnvlv ihhvpglech dqtvcsqrlr elqahhvhnn sgcdvaynfl
      121 vgddgrvyeg vgwniqgvht qgynnislgf affgtkkghs pspaalsame nlityavqkg
      181 hlsssyvqpl lgkgenclap rqktslkkac pgvvprsvwg arethcprmt lpakygiiih
      241 tagrtcnisd ecrllvrdiq sfyidrlksc digynflvgq dgaiyegvgw nvqgsstpgy
      301 ddialgitfm gtftgippna aaleaaqdli qcamvkgylt pnyllvghsd vartlspgqa
      361 lyniistwph fkh
//
LOCUS       NP_064715                441 aa            linear   PRI 18-DEC-2022
DEFINITION  ankyrin repeat and MYND domain-containing protein 2 [Homo sapiens].
ACCESSION   NP_064715
VERSION     NP_064715.1
DBSOURCE    REFSEQ: accession NM_020319.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 441)
  AUTHORS   Saita S, Shirane M, Ishitani T, Shimizu N and Nakayama KI.
  TITLE     Role of the ANKMY2-FKBP38 axis in regulation of the Sonic hedgehog
            (Shh) signaling pathway
  JOURNAL   J Biol Chem 289 (37), 25639-25654 (2014)
   PUBMED   25077969
REFERENCE   2  (residues 1 to 441)
  AUTHORS   Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
            Safari A, Liu D and Songyang Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC035353.1 and BC015453.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK023704.1, AL050390.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306999.7/ ENSP00000303570.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..441
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.1"
     Protein         1..441
                     /product="ankyrin repeat and MYND domain-containing
                     protein 2"
                     /calculated_mol_wt=49168
     Region          16..43
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          31..110
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Site            order(45,47,51..52,55..57,59..60,64,67,77,79,81,85..86,
                     89..91,93..94,98,101,110,112,114,118..119,122..124,
                     126..127)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          45..77
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          45..74
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IV38.1)"
     Region          79..110
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          79..108
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IV38.1)"
     Region          84..>145
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          159..188
                     /region_name="ANK 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IV38.1)"
     Region          320..357
                     /region_name="zf-MYND"
                     /note="MYND finger; pfam01753"
                     /db_xref="CDD:426410"
     Region          374..441
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IV38.1)"
     CDS             1..441
                     /gene="ANKMY2"
                     /gene_synonym="ZMYND20"
                     /coded_by="NM_020319.3:182..1507"
                     /db_xref="CCDS:CCDS5361.1"
                     /db_xref="GeneID:57037"
                     /db_xref="HGNC:HGNC:25370"
ORIGIN      
        1 mvhikkgelt qeekellevi gkgtvqeagt llssknvrvn cldengmtpl mhaaykgkld
       61 mcklllrhga dvnchqhehg ytalmfaals gnkditwvml eagaetdvvn svgrtaaqma
      121 afvgqhdcvt iinnffprer ldyytkpqgl dkepklppkl agplhkiitt tnlhpvkivm
      181 lvnenpllte eaalnkcyrv mdlicekcmk qrdmnevlam kmhyiscifq kcinflkdge
      241 nkldtliksl lkgrasdgfp vyqekiires irkfpyceat llqqlvrsia pveigsdpta
      301 fsvltqaitg qvgfvdvefc ttcgekgask rcsvckmviy cdqtcqkthw fthkkicknl
      361 kdiyekqqle aakekrqeen hgkldvnsnc vneeqpeaev gisqkdsnpe dsgegkkesl
      421 eseaeleglq dapagpqvse e
//
LOCUS       NP_001336281            1028 aa            linear   PRI 18-DEC-2022
DEFINITION  contactin-6 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001336281
VERSION     NP_001336281.1
DBSOURCE    REFSEQ: accession NM_001349352.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1028)
  AUTHORS   Repnikova EA, Lyalin DA, McDonald K, Astbury C, Hansen-Kiss E,
            Cooley LD, Pfau R, Herman GE, Pyatt RE and Hickey SE.
  TITLE     CNTN6 copy number variations: Uncertain clinical significance in
            individuals with neurodevelopmental disorders
  JOURNAL   Eur J Med Genet 63 (1), 103636 (2020)
   PUBMED   30836150
  REMARK    GeneRIF: CNTN6 copy number variations: Uncertain clinical
            significance in individuals with neurodevelopmental disorders.
REFERENCE   2  (residues 1 to 1028)
  AUTHORS   Tassano,E., Uccella,S., Giacomini,T., Severino,M., Fiorio,P.,
            Gimelli,G. and Ronchetto,P.
  TITLE     Clinical and Molecular Characterization of Two Patients with CNTN6
            Copy Number Variations
  JOURNAL   Cytogenet Genome Res 156 (3), 144-149 (2018)
   PUBMED   30508811
  REMARK    GeneRIF: this study describes of 2 boys with intellectual
            disability, attention-deficit hyperactivity disorder harboring a
            3p26.3 microdeletion and a 3p26.3 microduplication, which are both
            paternally inherited and include only the CNTN6 gene.
REFERENCE   3  (residues 1 to 1028)
  AUTHORS   Huang AY, Yu D, Davis LK, Sul JH, Tsetsos F, Ramensky V, Zelaya I,
            Ramos EM, Osiecki L, Chen JA, McGrath LM, Illmann C, Sandor P, Barr
            CL, Grados M, Singer HS, Nothen MM, Hebebrand J, King RA, Dion Y,
            Rouleau G, Budman CL, Depienne C, Worbe Y, Hartmann A, Muller-Vahl
            KR, Stuhrmann M, Aschauer H, Stamenkovic M, Schloegelhofer M,
            Konstantinidis A, Lyon GJ, McMahon WM, Barta C, Tarnok Z, Nagy P,
            Batterson JR, Rizzo R, Cath DC, Wolanczyk T, Berlin C, Malaty IA,
            Okun MS, Woods DW, Rees E, Pato CN, Pato MT, Knowles JA, Posthuma
            D, Pauls DL, Cox NJ, Neale BM, Freimer NB, Paschou P, Mathews CA,
            Scharf JM and Coppola G.
  CONSRTM   Tourette Syndrome Association International Consortium for Genetics
            (TSAICG); Gilles de la Tourette Syndrome GWAS Replication
            Initiative (GGRI)
  TITLE     Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for
            Tourette Syndrome
  JOURNAL   Neuron 94 (6), 1101-1111 (2017)
   PUBMED   28641109
  REMARK    GeneRIF: CNTN6 copy number variants (duplications) were associated
            with increased risk of Tourette syndrome.
REFERENCE   4  (residues 1 to 1028)
  AUTHORS   Mercati O, Huguet G, Danckaert A, Andre-Leroux G, Maruani A,
            Bellinzoni M, Rolland T, Gouder L, Mathieu A, Buratti J, Amsellem
            F, Benabou M, Van-Gils J, Beggiato A, Konyukh M, Bourgeois JP,
            Gazzellone MJ, Yuen RK, Walker S, Delepine M, Boland A, Regnault B,
            Francois M, Van Den Abbeele T, Mosca-Boidron AL, Faivre L, Shimoda
            Y, Watanabe K, Bonneau D, Rastam M, Leboyer M, Scherer SW, Gillberg
            C, Delorme R, Cloez-Tayarani I and Bourgeron T.
  TITLE     CNTN6 mutations are risk factors for abnormal auditory sensory
            perception in autism spectrum disorders
  JOURNAL   Mol Psychiatry 22 (4), 625-633 (2017)
   PUBMED   27166760
  REMARK    GeneRIF: Clinical investigations of the patients carrying CNTN5 or
            CNTN6 variants showed that they were hypersensitive to sounds (a
            condition called hyperacusis) and displayed changes in wave latency
            within the auditory pathway.
REFERENCE   5  (residues 1 to 1028)
  AUTHORS   Armstrong DL, Zidovetzki R, Alarcon-Riquelme ME, Tsao BP, Criswell
            LA, Kimberly RP, Harley JB, Sivils KL, Vyse TJ, Gaffney PM,
            Langefeld CD and Jacob CO.
  TITLE     GWAS identifies novel SLE susceptibility genes and explains the
            association of the HLA region
  JOURNAL   Genes Immun 15 (6), 347-354 (2014)
   PUBMED   24871463
REFERENCE   6  (residues 1 to 1028)
  AUTHORS   Barber MJ, Mangravite LM, Hyde CL, Chasman DI, Smith JD, McCarty
            CA, Li X, Wilke RA, Rieder MJ, Williams PT, Ridker PM, Chatterjee
            A, Rotter JI, Nickerson DA, Stephens M and Krauss RM.
  TITLE     Genome-wide association of lipid-lowering response to statins in
            combined study populations
  JOURNAL   PLoS One 5 (3), e9763 (2010)
   PUBMED   20339536
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 1028)
  AUTHORS   Gratacos M, Costas J, de Cid R, Bayes M, Gonzalez JR, Baca-Garcia
            E, de Diego Y, Fernandez-Aranda F, Fernandez-Piqueras J, Guitart M,
            Martin-Santos R, Martorell L, Menchon JM, Roca M, Saiz-Ruiz J,
            Sanjuan J, Torrens M, Urretavizcaya M, Valero J, Vilella E,
            Estivill X and Carracedo A.
  CONSRTM   Psychiatric Genetics Network Group
  TITLE     Identification of new putative susceptibility genes for several
            psychiatric disorders by association analysis of regulatory and
            non-synonymous SNPs of 306 genes involved in neurotransmission and
            neurodevelopment
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 150B (6), 808-816 (2009)
   PUBMED   19086053
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 1028)
  AUTHORS   Manderson EN, Birch AH, Shen Z, Mes-Masson AM, Provencher D and
            Tonin PN.
  TITLE     Molecular genetic analysis of a cell adhesion molecule with
            homology to L1CAM, contactin 6, and contactin 4 candidate
            chromosome 3p26pter tumor suppressor genes in ovarian cancer
  JOURNAL   Int J Gynecol Cancer 19 (4), 513-525 (2009)
   PUBMED   19509545
  REMARK    GeneRIF: results do not support the candidacy of CHL1, CNTN6, and
            CNTN4 as tumor suppressor genes in the 3p26-pter region in ovarian
            cancer
REFERENCE   9  (residues 1 to 1028)
  AUTHORS   Kamei Y, Tsutsumi O, Taketani Y and Watanabe K.
  TITLE     cDNA cloning and chromosomal localization of neural adhesion
            molecule NB-3 in human
  JOURNAL   J Neurosci Res 51 (3), 275-283 (1998)
   PUBMED   9486763
REFERENCE   10 (residues 1 to 1028)
  AUTHORS   Walsh FS and Doherty P.
  TITLE     Glycosylphosphatidylinositol anchored recognition molecules that
            function in axonal fasciculation, growth and guidance in the
            nervous system
  JOURNAL   Cell Biol Int Rep 15 (11), 1151-1166 (1991)
   PUBMED   1838307
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC027123.7, AC034192.5 and
            AC026214.4.
            
            Summary: The protein encoded by this gene is a member of the
            immunoglobulin superfamily. It is a glycosylphosphatidylinositol
            (GPI)-anchored neuronal membrane protein that functions as a cell
            adhesion molecule. It may play a role in the formation of axon
            connections in the developing nervous system. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jan
            2014].
            
            Transcript Variant: This variant (6), as well as variants 1, 2, 4,
            5, and 7-9, encodes isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.216484.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144333, SAMEA2158569
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1028
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p26.3"
     Protein         1..1028
                     /product="contactin-6 isoform 1 precursor"
                     /note="neural adhesion molecule; neural recognition
                     molecule NB-3"
                     /calculated_mol_wt=111837
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2138
     mat_peptide     20..999
                     /product="Contactin-6. /id=PRO_0000014727"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UQ52.1)"
                     /calculated_mol_wt=108515
     Region          26..120
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          46..50
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          59..63
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            65
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UQ52.1)"
     Region          82..86
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          97..102
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          111..114
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          129..214
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          140..144
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          154..158
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          179..183
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          193..198
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            193
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UQ52.1)"
     Region          209..212
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          227..315
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          245..249
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          258..262
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          280..284
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          294..299
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          307..310
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          319..403
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          335..339
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          348..352
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            368
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UQ52.1)"
     Region          369..373
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Site            377
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UQ52.1)"
     Region          383..388
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          396..399
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          408..496
                     /region_name="Ig5_Contactin"
                     /note="Fifth immunoglobulin (Ig) domain of contactin;
                     cd04969"
                     /db_xref="CDD:409358"
     Region          408..413
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409358"
     Region          416..421
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409358"
     Region          425..432
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409358"
     Region          440..444
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409358"
     Region          458..461
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409358"
     Region          462..467
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409358"
     Site            468
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UQ52.1)"
     Region          475..483
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409358"
     Region          489..496
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409358"
     Region          500..598
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          517..521
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          532..536
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          560..564
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          574..579
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          587..590
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          598..691
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(598,667,682)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            659
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UQ52.1)"
     Site            order(683..684,686..687)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          703..796
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            765
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UQ52.1)"
     Site            order(786..787,789..790)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          805..898
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            860
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UQ52.1)"
     Site            865
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UQ52.1)"
     Site            882
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9UQ52.1)"
     Region          887..908
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UQ52.1)"
     Site            order(887..888,890..891)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            895
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UQ52.1)"
     Region          906..991
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            931
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UQ52.1)"
     Site            956
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UQ52.1)"
     Site            957
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UQ52.1)"
     Site            order(982..983,985..986)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..1028
                     /gene="CNTN6"
                     /gene_synonym="NB3"
                     /coded_by="NM_001349352.2:287..3373"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 6"
                     /db_xref="CCDS:CCDS2557.1"
                     /db_xref="GeneID:27255"
                     /db_xref="HGNC:HGNC:2176"
                     /db_xref="MIM:607220"
ORIGIN      
        1 mrllwklvil lplinssagd gllsrpiftq ephdvifpld lsksevilnc aangypsphy
       61 rwkqngtdid ftmsyhyrld ggslainsph tdqdigmyqc latnllgtil srkaklqfay
      121 iedfetktrs tvsvregqgv vllcgppphf gdlsyawtfn dnplyvqedn rrfvsqetgn
      181 lyiakvepsd vgnytcfitn keaqrsvqgp ptplvqrtdg vmgeyepkie vrfpetiqaa
      241 kdssvklecf algnpvpdis wrrldgsplp gkvkysksqa ileipnfqqe degfyecias
      301 nlrgrnlakg qlifyappew eqkiqnthls iydnllweck asgkpnpwyt wlkngerlnp
      361 eeriqiengt liitmlnvsd sgvyqcaaen kyqiiyanae lrvlasapdf skspvkkksf
      421 vqvggdivig ckpnafpraa iswkrgtetl rqskriflle dgslkiynit rsdagsytci
      481 atnqfgtakn tgslivkert vitvppskmd vtvgesivlp cqvshdpsie vvfvwffngd
      541 vidlkkgvah feriggesvg dlmirniqlh hsgkylctvq ttleslsava diivrgppgp
      601 pedvqvedis sttsqlswra gpdnnspiqi ftiqtrtpfs vgwqavatvp eilngktyna
      661 tvvglspwve yefrvvagns igigepseps ellrtkasvp vvapvnihgg ggsrselvit
      721 wesipeelqn gegfgyiimf rpvgsttwsk ekvssvessr fvyrnesiip lspfevkvgv
      781 ynnegegsls tvtivysged epqlaprgts lqsfsaseme vswnaiawnr ntgrvlgyev
      841 lywtddskes migkirvsgn vttknitglk antiyfasvr ayntagtgps sppvnvttkk
      901 sppsqppani awkltnsklc lnwehvktme nesevlgyki lyrqnrqskt hiletnntsa
      961 ellvpfeedy lieirtvsdg gdgssseeir ipkmsslssr giqflepsth flsivivifh
     1021 cfaiqpli
//
LOCUS       NP_071914                168 aa            linear   PRI 18-DEC-2022
DEFINITION  gremlin-2 precursor [Homo sapiens].
ACCESSION   NP_071914
VERSION     NP_071914.3
DBSOURCE    REFSEQ: accession NM_022469.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 168)
  AUTHORS   Zhang Z and Zhu X.
  TITLE     MiR-103a-3p Contributes to the Progression of Colorectal Cancer by
            Regulating GREM2 Expression
  JOURNAL   Yonsei Med J 63 (6), 520-529 (2022)
   PUBMED   35619575
  REMARK    GeneRIF: MiR-103a-3p Contributes to the Progression of Colorectal
            Cancer by Regulating GREM2 Expression.
REFERENCE   2  (residues 1 to 168)
  AUTHORS   Liu W, Li D, Yang M, Wang L, Xu Y, Chen N, Zhang Z, Shi J, Li W,
            Zhao S, Gao A, Chen Y, Ma Q, Zheng R, Wu S, Zhang Y, Chen Y, Qian
            S, Bi Y, Gu W, Tang Q, Ning G, Liu R, Wang W, Hong J and Wang J.
  TITLE     GREM2 is associated with human central obesity and inhibits
            visceral preadipocyte browning
  JOURNAL   EBioMedicine 78, 103969 (2022)
   PUBMED   35349825
  REMARK    GeneRIF: GREM2 is associated with human central obesity and
            inhibits visceral preadipocyte browning.
REFERENCE   3  (residues 1 to 168)
  AUTHORS   Williams M, Zeng Y, Chiquet B, Jacob H, Kurtis Kasper F, Harrington
            DA, English J, Akyalcin S and Letra A.
  TITLE     Functional characterization of ATF1, GREM2 AND WNT10B variants
            associated with tooth agenesis
  JOURNAL   Orthod Craniofac Res 24 (4), 486-493 (2021)
   PUBMED   33369218
  REMARK    GeneRIF: Functional characterization of ATF1, GREM2 AND WNT10B
            variants associated with tooth agenesis.
REFERENCE   4  (residues 1 to 168)
  AUTHORS   Shan G, Gu J, Zhou D, Li L, Cheng W, Wang Y, Tang T and Wang X.
  TITLE     Cancer-associated fibroblast-secreted exosomal miR-423-5p promotes
            chemotherapy resistance in prostate cancer by targeting GREM2
            through the TGF-beta signaling pathway
  JOURNAL   Exp Mol Med 52 (11), 1809-1822 (2020)
   PUBMED   33144675
  REMARK    GeneRIF: Cancer-associated fibroblast-secreted exosomal miR-423-5p
            promotes chemotherapy resistance in prostate cancer by targeting
            GREM2 through the TGF-beta signaling pathway.
REFERENCE   5  (residues 1 to 168)
  AUTHORS   Feng Y, Zhu L, Gu Y, Wang LJ, Niu BJ, Cai F and Chen L.
  TITLE     Association of Gremlin-2 gene polymorphisms with osteoporosis risk
            in Chinese postmenopausal women
  JOURNAL   Biosci Rep 40 (4) (2020)
   PUBMED   32297643
  REMARK    GeneRIF: Association of Gremlin-2 gene polymorphisms with
            osteoporosis risk in Chinese postmenopausal women.
REFERENCE   6  (residues 1 to 168)
  AUTHORS   Gazzerro E and Canalis E.
  TITLE     Bone morphogenetic proteins and their antagonists
  JOURNAL   Rev Endocr Metab Disord 7 (1-2), 51-65 (2006)
   PUBMED   17029022
  REMARK    Review article
REFERENCE   7  (residues 1 to 168)
  AUTHORS   Chen D, Zhao M and Mundy GR.
  TITLE     Bone morphogenetic proteins
  JOURNAL   Growth Factors 22 (4), 233-241 (2004)
   PUBMED   15621726
  REMARK    Review article
REFERENCE   8  (residues 1 to 168)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of human CKTSF1B2 and CKTSF1B3
            genes in silico
  JOURNAL   Oncol Rep 12 (2), 423-427 (2004)
   PUBMED   15254711
REFERENCE   9  (residues 1 to 168)
  AUTHORS   Sudo S, Avsian-Kretchmer O, Wang LS and Hsueh AJ.
  TITLE     Protein related to DAN and cerberus is a bone morphogenetic protein
            antagonist that participates in ovarian paracrine regulation
  JOURNAL   J Biol Chem 279 (22), 23134-23141 (2004)
   PUBMED   15039429
REFERENCE   10 (residues 1 to 168)
  AUTHORS   Avsian-Kretchmer O and Hsueh AJ.
  TITLE     Comparative genomic analysis of the eight-membered ring cystine
            knot-containing bone morphogenetic protein antagonists
  JOURNAL   Mol Endocrinol 18 (1), 1-12 (2004)
   PUBMED   14525956
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL358176.22, AK024848.1 and
            BQ005641.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 26, 2005 this sequence version replaced NP_071914.2.
            
            Summary: This gene encodes a member of the BMP (bone morphogenic
            protein) antagonist family. Like BMPs, BMP antagonists contain
            cystine knots and typically form homo- and heterodimers. The CAN
            (cerberus and dan) subfamily of BMP antagonists, to which this gene
            belongs, is characterized by a C-terminal cystine knot with an
            eight-membered ring. The antagonistic effect of the secreted
            glycosylated protein encoded by this gene is likely due to its
            direct binding to BMP proteins. As an antagonist of BMP, this gene
            may play a role in regulating organogenesis, body patterning, and
            tissue differentiation. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC046632.1, SRR14038194.1304091.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318160.5/ ENSP00000318650.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..168
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q43"
     Protein         1..168
                     /product="gremlin-2 precursor"
                     /note="protein related to DAN and cerberus; cysteine knot
                     superfamily 1, BMP antagonist 2; gremlin-2; DAN domain
                     family member 3; gremlin 2, cysteine knot superfamily,
                     homolog"
                     /calculated_mol_wt=16974
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2365
     mat_peptide     22..168
                     /product="gremlin-2"
                     /calculated_mol_wt=16974
     Site            40
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9H772.1)"
     Region          51..158
                     /region_name="DAN"
                     /note="DAN domain; pfam03045"
                     /db_xref="CDD:427112"
     Site            161
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9H772.1)"
     CDS             1..168
                     /gene="GREM2"
                     /gene_synonym="CKTSF1B2; DAND3; PRDC; STHAG9"
                     /coded_by="NM_022469.4:274..780"
                     /db_xref="CCDS:CCDS31070.1"
                     /db_xref="GeneID:64388"
                     /db_xref="HGNC:HGNC:17655"
                     /db_xref="MIM:608832"
ORIGIN      
        1 mfwklslslf lvavlvkvae arknrpagai pspykdgssn nserwqhqik evlassqeal
       61 vvterkylks dwcktqplrq tvseegcrsr tilnrfcygq cnsfyiprhv kkeeesfqsc
      121 afckpqrvts vlvelecpgl dppfrlkkiq kvkqcrcmsv nlsdsdkq
//
LOCUS       NP_001291449             225 aa            linear   PRI 18-DEC-2022
DEFINITION  homeobox even-skipped homolog protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001291449 XP_005249696
VERSION     NP_001291449.1
DBSOURCE    REFSEQ: accession NM_001304520.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 225)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   2  (residues 1 to 225)
  AUTHORS   Mallak AJ, Abbaszadegan MR, Khorasanizadeh PN and Forghanifard MM.
  TITLE     Contribution of EVX1 in Aggressiveness of Esophageal Squamous Cell
            Carcinoma
  JOURNAL   Pathol Oncol Res 22 (2), 341-347 (2016)
   PUBMED   26552663
  REMARK    GeneRIF: Low EVX1 expression is Correlated with Aggressiveness of
            Esophageal Squamous Cell Carcinoma.
REFERENCE   3  (residues 1 to 225)
  AUTHORS   Franceschini N, Fox E, Zhang Z, Edwards TL, Nalls MA, Sung YJ, Tayo
            BO, Sun YV, Gottesman O, Adeyemo A, Johnson AD, Young JH, Rice K,
            Duan Q, Chen F, Li Y, Tang H, Fornage M, Keene KL, Andrews JS,
            Smith JA, Faul JD, Guangfa Z, Guo W, Liu Y, Murray SS, Musani SK,
            Srinivasan S, Velez Edwards DR, Wang H, Becker LC, Bovet P, Bochud
            M, Broeckel U, Burnier M, Carty C, Chasman DI, Ehret G, Chen WM,
            Chen G, Chen W, Ding J, Dreisbach AW, Evans MK, Guo X, Garcia ME,
            Jensen R, Keller MF, Lettre G, Lotay V, Martin LW, Moore JH,
            Morrison AC, Mosley TH, Ogunniyi A, Palmas W, Papanicolaou G,
            Penman A, Polak JF, Ridker PM, Salako B, Singleton AB, Shriner D,
            Taylor KD, Vasan R, Wiggins K, Williams SM, Yanek LR, Zhao W,
            Zonderman AB, Becker DM, Berenson G, Boerwinkle E, Bottinger E,
            Cushman M, Eaton C, Nyberg F, Heiss G, Hirschhron JN, Howard VJ,
            Karczewsk KJ, Lanktree MB, Liu K, Liu Y, Loos R, Margolis K, Snyder
            M, Psaty BM, Schork NJ, Weir DR, Rotimi CN, Sale MM, Harris T,
            Kardia SL, Hunt SC, Arnett D, Redline S, Cooper RS, Risch NJ, Rao
            DC, Rotter JI, Chakravarti A, Reiner AP, Levy D, Keating BJ and Zhu
            X.
  CONSRTM   Asian Genetic Epidemiology Network Consortium
  TITLE     Genome-wide association analysis of blood-pressure traits in
            African-ancestry individuals reveals common associated genes in
            African and non-African populations
  JOURNAL   Am J Hum Genet 93 (3), 545-554 (2013)
   PUBMED   23972371
REFERENCE   4  (residues 1 to 225)
  AUTHORS   Kalisz M, Winzi M, Bisgaard HC and Serup P.
  TITLE     EVEN-SKIPPED HOMEOBOX 1 controls human ES cell differentiation by
            directly repressing GOOSECOID expression
  JOURNAL   Dev Biol 362 (1), 94-103 (2012)
   PUBMED   22178155
  REMARK    GeneRIF: Even-skipped homeobox 1 controls human embryonic stem cell
            differentiation by directly repressing Goosecoid expression.
REFERENCE   5  (residues 1 to 225)
  AUTHORS   Smith NL, Felix JF, Morrison AC, Demissie S, Glazer NL, Loehr LR,
            Cupples LA, Dehghan A, Lumley T, Rosamond WD, Lieb W, Rivadeneira
            F, Bis JC, Folsom AR, Benjamin E, Aulchenko YS, Haritunians T,
            Couper D, Murabito J, Wang YA, Stricker BH, Gottdiener JS, Chang
            PP, Wang TJ, Rice KM, Hofman A, Heckbert SR, Fox ER, O'Donnell CJ,
            Uitterlinden AG, Rotter JI, Willerson JT, Levy D, van Duijn CM,
            Psaty BM, Witteman JC, Boerwinkle E and Vasan RS.
  TITLE     Association of genome-wide variation with the risk of incident
            heart failure in adults of European and African ancestry: a
            prospective meta-analysis from the cohorts for heart and aging
            research in genomic epidemiology (CHARGE) consortium
  JOURNAL   Circ Cardiovasc Genet 3 (3), 256-266 (2010)
   PUBMED   20445134
REFERENCE   6  (residues 1 to 225)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (residues 1 to 225)
  AUTHORS   Briata P, Van De Werken R, Airoldi I, Ilengo C, Di Blas E,
            Boncinelli E and Corte G.
  TITLE     Transcriptional repression by the human homeobox protein EVX1 in
            transfected mammalian cells
  JOURNAL   J Biol Chem 270 (46), 27695-27701 (1995)
   PUBMED   7499236
  REMARK    Erratum:[J Biol Chem 1996 Aug 2;271(31):19008]
REFERENCE   8  (residues 1 to 225)
  AUTHORS   Faiella A, D'Esposito M, Rambaldi M, Acampora D, Balsofiore S,
            Stornaiuolo A, Mallamaci A, Migliaccio E, Gulisano M and Simeone A.
  TITLE     Isolation and mapping of EVX1, a human homeobox gene homologous to
            even-skipped, localized at the 5' end of HOX1 locus on chromosome 7
  JOURNAL   Nucleic Acids Res 19 (23), 6541-6545 (1991)
   PUBMED   1684419
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK299188.1, AC004080.2,
            AK298822.1 and KF458418.1.
            On Jan 30, 2015 this sequence version replaced XP_005249696.1.
            
            Summary: This gene encodes a member of the even-skipped homeobox
            family characterized by the presence of a homeodomain closely
            related to the Drosophila even-skipped (eve) segmentation gene of
            the pair-rule class. The encoded protein may play an important role
            as a transcriptional repressor during embryogenesis. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) uses an alternate splice site
            in the 5'-terminal exon, contains an alternate exon in its 5' UTR,
            and uses a downstream in-frame start codon, compared to variant 1.
            The encoded isoform (2) has a shorter N-terminus compared to
            isoform 1. Both variants 2 and 3 encode the same isoform.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK298822.1, DC366055.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..225
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.2"
     Protein         1..225
                     /product="homeobox even-skipped homolog protein 1 isoform
                     2"
                     /note="eve, even-skipped homeo box homolog 1; even-skipped
                     homeo box 1 (homolog of Drosophila); homeobox even-skipped
                     homolog protein 1; eve, even-skipped homeobox homolog 1"
                     /calculated_mol_wt=24445
     Site            order(2..6,8,25,31,44,46..47,50..51,53..55,57..58)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Site            order(4,7,47,50..51,54)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          5..57
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     CDS             1..225
                     /gene="EVX1"
                     /gene_synonym="EVX-1"
                     /coded_by="NM_001304520.2:773..1450"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="GeneID:2128"
                     /db_xref="HGNC:HGNC:3506"
                     /db_xref="MIM:142996"
ORIGIN      
        1 mrryrtaftr eqiarlekef yrenyvsrpr rcelaaalnl pettikvwfq nrrmkdkrqr
       61 lamtwphpad pafytymmsh aaaagglpyp fpshlplpyy spvglgaasa asaaaspfsg
      121 slrpldtfrv lsqpyprpel lcafrhpply pgpahglgas aggpcsclac hsgpanglap
      181 raaaasdftc astsrsdsfl tfapsvlska ssvaldqree vpltr
//
LOCUS       NP_579919                584 aa            linear   PRI 19-DEC-2022
DEFINITION  cell cycle checkpoint protein RAD17 isoform 4 [Homo sapiens].
ACCESSION   NP_579919
VERSION     NP_579919.1
DBSOURCE    REFSEQ: accession NM_133341.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 584)
  AUTHORS   Sun J, Lin W, Wang Q, Sakai A, Xue R, Watanabe M, Liu C, Sadahira
            T, Nasu Y, Xu A and Huang P.
  TITLE     The Cell Cycle Checkpoint Gene, RAD17 rs1045051, Is Associated with
            Prostate Cancer Risk
  JOURNAL   Acta Med Okayama 75 (4), 415-421 (2021)
   PUBMED   34511607
  REMARK    GeneRIF: The Cell Cycle Checkpoint Gene, RAD17 rs1045051, Is
            Associated with Prostate Cancer Risk.
REFERENCE   2  (residues 1 to 584)
  AUTHORS   Fukumoto Y, Ikeuchi M, Qu L, Hoshino T, Yamaguchi N, Nakayama Y and
            Ogra Y.
  TITLE     Nuclear translocation promotes proteasomal degradation of human
            Rad17 protein through the N-terminal destruction boxes
  JOURNAL   J Biol Chem 297 (2), 100831 (2021)
   PUBMED   34174284
  REMARK    GeneRIF: Nuclear translocation promotes proteasomal degradation of
            human Rad17 protein through the N-terminal destruction boxes.
REFERENCE   3  (residues 1 to 584)
  AUTHORS   Zeng Y, Jie X, Wu B, Wu G, Liu L and Xu S.
  TITLE     IQGAP3 interacts with Rad17 to recruit the Mre11-Rad50-Nbs1 complex
            and contributes to radioresistance in lung cancer
  JOURNAL   Cancer Lett 493, 254-265 (2020)
   PUBMED   32896617
  REMARK    GeneRIF: IQGAP3 interacts with Rad17 to recruit the
            Mre11-Rad50-Nbs1 complex and contributes to radioresistance in lung
            cancer.
REFERENCE   4  (residues 1 to 584)
  AUTHORS   Xu J, Wang G, Gong W, Guo S, Li D and Zhan Q.
  TITLE     The noncoding function of NELFA mRNA promotes the development of
            oesophageal squamous cell carcinoma by regulating the Rad17-RFC2-5
            complex
  JOURNAL   Mol Oncol 14 (3), 611-624 (2020)
   PUBMED   31845510
  REMARK    GeneRIF: The noncoding function of NELFA mRNA promotes the
            development of oesophageal squamous cell carcinoma by regulating
            the Rad17-RFC2-5 complex.
REFERENCE   5  (residues 1 to 584)
  AUTHORS   Fukumoto Y, Nakayama Y and Yamaguchi N.
  TITLE     Human Rad17C-terminal tail is phosphorylated by concerted action of
            CK1delta/epsilon and CK2 to promote interaction with the 9-1-1
            complex
  JOURNAL   Biochem Biophys Res Commun 517 (2), 310-316 (2019)
   PUBMED   31353086
  REMARK    GeneRIF: Human Rad17 is constitutively phosphorylated in vivo on a
            C-terminal threonine, T670. Rad17-T670 is phosphorylated by casein
            kinase 1delta/epsilon.
REFERENCE   6  (residues 1 to 584)
  AUTHORS   Bluyssen HA, Naus NC, van Os RI, Jaspers I, Hoeijmakers JH and de
            Klein A.
  TITLE     Human and mouse homologs of the Schizosaccharomyces pombe rad17+
            cell cycle checkpoint control gene
  JOURNAL   Genomics 55 (2), 219-228 (1999)
   PUBMED   9933569
REFERENCE   7  (residues 1 to 584)
  AUTHORS   Dean FB, Lian L and O'Donnell M.
  TITLE     cDNA cloning and gene mapping of human homologs for
            Schizosaccharomyces pombe rad17, rad1, and hus1 and cloning of
            homologs from mouse, Caenorhabditis elegans, and Drosophila
            melanogaster
  JOURNAL   Genomics 54 (3), 424-436 (1998)
   PUBMED   9878245
REFERENCE   8  (residues 1 to 584)
  AUTHORS   Freire R, Murguia JR, Tarsounas M, Lowndes NF, Moens PB and Jackson
            SP.
  TITLE     Human and mouse homologs of Schizosaccharomyces pombe rad1(+) and
            Saccharomyces cerevisiae RAD17: linkage to checkpoint control and
            mammalian meiosis
  JOURNAL   Genes Dev 12 (16), 2560-2573 (1998)
   PUBMED   9716408
REFERENCE   9  (residues 1 to 584)
  AUTHORS   Parker AE, Van de Weyer I, Laus MC, Verhasselt P and Luyten WH.
  TITLE     Identification of a human homologue of the Schizosaccharomyces
            pombe rad17+ checkpoint gene
  JOURNAL   J Biol Chem 273 (29), 18340-18346 (1998)
   PUBMED   9660800
  REMARK    Erratum:[J Biol Chem 1999 Aug 20;274(34):24438]
REFERENCE   10 (residues 1 to 584)
  AUTHORS   al-Khodairy F and Carr AM.
  TITLE     DNA repair mutants defining G2 checkpoint pathways in
            Schizosaccharomyces pombe
  JOURNAL   EMBO J 11 (4), 1343-1350 (1992)
   PUBMED   1563350
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC018110.1 and AF098534.1.
            
            Summary: The protein encoded by this gene is highly similar to the
            gene product of Schizosaccharomyces pombe rad17, a cell cycle
            checkpoint gene required for cell cycle arrest and DNA damage
            repair in response to DNA damage. This protein shares strong
            similarity with DNA replication factor C (RFC), and can form a
            complex with RFCs. This protein binds to chromatin prior to DNA
            damage and is phosphorylated by the checkpoint kinase ATR following
            damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein
            complex onto chromatin after DNA damage, which may be required for
            its phosphorylation. The phosphorylation of this protein is
            required for the DNA-damage-induced cell cycle G2 arrest, and is
            thought to be a critical early event during checkpoint signaling in
            DNA-damaged cells. Multiple alternatively spliced transcript
            variants of this gene, which encode four distinct protein isoforms,
            have been reported. Two pseudogenes, located on chromosomes 7 and
            13, have been identified. [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (4) lacks an internal exon in the
            5' UTR and an in-frame exon in the 5' coding region, when compared
            to variant 1. The resulting isoform (4) is shorter and lacks an
            internal segment in the N-terminal region, as compared to isoform
            1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF098534.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..584
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     Protein         1..584
                     /product="cell cycle checkpoint protein RAD17 isoform 4"
                     /note="RAD1 homolog; cell cycle checkpoint protein
                     (RAD17); Rad17-like protein; RF-C activator 1 homolog;
                     RAD17 homolog"
                     /calculated_mol_wt=66025
     Region          3..555
                     /region_name="rad24"
                     /note="checkpoint protein rad24; TIGR00602"
                     /db_xref="CDD:129690"
     CDS             1..584
                     /gene="RAD17"
                     /gene_synonym="CCYC; HRAD17; R24L; RAD17SP; RAD24"
                     /coded_by="NM_133341.2:313..2067"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS4005.1"
                     /db_xref="GeneID:5884"
                     /db_xref="HGNC:HGNC:9807"
                     /db_xref="MIM:603139"
ORIGIN      
        1 mnqhelavhk kkieevetwl kaqvlerqpk qggsillitg ppgcgktttl kilskehgiq
       61 vqewinpvlp dfqkddfkgm fntessfhmf pyqsqiavfk efllratkyn klqmlgddlr
      121 tdkkiilved lpnqfyrdsh tlhevlrkyv rigrcplifi isdslsgdnn qrllfpkeiq
      181 eecsisnisf npvaptimmk flnrivtiea nknggkitvp dktslellcq gcsgdirsai
      241 nslqfssskg ennlrprkkg mslksdavls kskrrkkpdr vfenqevqai ggkdvslflf
      301 ralgkilyck raslteldsp rlpshlseye rdtllvepee vvemshmpgd lfnlylhqny
      361 idffmeiddi vraseflsfa dilsgdwntr sllreystsi atrgvmhsnk argyahcqgg
      421 gssfrplhkp qwflinkkyr enclaakalf pdfclpalcl qtqllpylal ltipmrnqaq
      481 isfiqdigrl plkrhfgrlk mealtdrehg midpdsgdea qlngghsaee slgeptqatv
      541 petwslplsq nsaselpasq pqpfsaqgdm eeniiiedye sdgt
//
LOCUS       NP_001005277             312 aa            linear   PRI 19-DEC-2022
DEFINITION  olfactory receptor 4F3/4F16/4F29 [Homo sapiens].
ACCESSION   NP_001005277 XP_932106
VERSION     NP_001005277.1
DBSOURCE    REFSEQ: accession NM_001005277.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 312)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 312)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC114498.2.
            On Sep 20, 2006 this sequence version replaced XP_932106.1.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332831.5/ ENSP00000329982.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..312
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     Protein         1..312
                     /product="olfactory receptor 4F3/4F16/4F29"
                     /note="olfactory receptor OR1-1; olfactory receptor
                     OR7-21; olfactory receptor OR4F16"
                     /calculated_mol_wt=34943
     Site            5
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6IEY1.1)"
     Site            26..49
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1)"
     Region          35..291
                     /region_name="7tmA_OR4-like"
                     /note="olfactory receptor family 4 and related proteins,
                     member of the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15226"
                     /db_xref="CDD:320354"
     Site            58..79
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1)"
     Region          59..85
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320354"
     Site            order(81,84..85,97..102,104..105,108,153,155..159,195,
                     198..200,202..204,206..207,251,254..255,257..258,261,
                     265..266,268..270,273,276..277)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320354"
     Region          97..127
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320354"
     Site            101..120
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1)"
     Region          140..161
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320354"
     Site            140..158
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1)"
     Region          195..225
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320354"
     Site            196..219
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1)"
     Region          231..261
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320354"
     Site            236..258
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1)"
     Region          266..291
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320354"
     Site            270..289
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1)"
     CDS             1..312
                     /gene="OR4F16"
                     /gene_synonym="OR1-1; OR7-21"
                     /coded_by="NM_001005277.1:1..939"
                     /db_xref="CCDS:CCDS41221.1"
                     /db_xref="GeneID:81399"
                     /db_xref="HGNC:HGNC:15079"
ORIGIN      
        1 mdgenhsvvs eflflglths weiqllllvf ssvlyvasit gnilivfsvt tdphlhspmy
       61 fllaslsfid lgacsvtspk miydlfrkrk visfggciaq iffihvvggv emvlliamaf
      121 dryvalckpl hyltimsprm clsflavawt lgvshslfql aflvnlafcg pnvldsfycd
      181 lprllrlact dtyrlqfmvt vnsgficvgt ffillisyvf ilftvwkhss ggsskalstl
      241 sahstvvllf fgppmfvytr phpnsqmdkf laifdavltp flnpvvytfr nkemkaaikr
      301 vckqlviykr is
//
LOCUS       NP_001165405            1079 aa            linear   PRI 21-DEC-2022
DEFINITION  cadherin-23 isoform 7 [Homo sapiens].
ACCESSION   NP_001165405
VERSION     NP_001165405.1
DBSOURCE    REFSEQ: accession NM_001171934.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1079)
  AUTHORS   Wu ZD, Lu JQ, Du WJ and Wu S.
  TITLE     Association between genetic polymorphisms of cadherin 23 and
            noise-induced hearing loss: a meta-analysis
  JOURNAL   Ann Hum Biol 49 (1), 41-53 (2022)
   PUBMED   35786118
  REMARK    GeneRIF: Association between genetic polymorphisms of cadherin 23
            and noise-induced hearing loss: a meta-analysis.
REFERENCE   2  (residues 1 to 1079)
  AUTHORS   Elledge HM, Kazmierczak P, Clark P, Joseph JS, Kolatkar A, Kuhn P
            and Muller U.
  TITLE     Structure of the N terminus of cadherin 23 reveals a new adhesion
            mechanism for a subset of cadherin superfamily members
  JOURNAL   Proc Natl Acad Sci U S A 107 (23), 10708-10712 (2010)
   PUBMED   20498078
  REMARK    GeneRIF: determined the structure of the extracellular cadherin
            (EC)1-EC2 domains of cadherin 23, which binds to protocadherin 15
            to form tip links of mechanosensory hair cells.
REFERENCE   3  (residues 1 to 1079)
  AUTHORS   Baux D, Faugere V, Larrieu L, Le Guedard-Mereuze S, Hamroun D,
            Beroud C, Malcolm S, Claustres M and Roux AF.
  TITLE     UMD-USHbases: a comprehensive set of databases to record and
            analyse pathogenic mutations and unclassified variants in seven
            Usher syndrome causing genes
  JOURNAL   Hum Mutat 29 (8), E76-E87 (2008)
   PUBMED   18484607
REFERENCE   4  (residues 1 to 1079)
  AUTHORS   Lagziel A, Ahmed ZM, Schultz JM, Morell RJ, Belyantseva IA and
            Friedman TB.
  TITLE     Spatiotemporal pattern and isoforms of cadherin 23 in wild type and
            waltzer mice during inner ear hair cell development
  JOURNAL   Dev Biol 280 (2), 295-306 (2005)
   PUBMED   15882574
  REMARK    GeneRIF: Describes cloning of human and mouse isoforms B1, B2, C1
            and C2.
REFERENCE   5  (residues 1 to 1079)
  AUTHORS   Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL,
            Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman
            S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A,
            Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith
            RJ, Griffith AJ, Wilcox ER, Friedman TB and Morell RJ.
  TITLE     Usher syndrome 1D and nonsyndromic autosomal recessive deafness
            DFNB12 are caused by allelic mutations of the novel cadherin-like
            gene CDH23
  JOURNAL   Am J Hum Genet 68 (1), 26-37 (2001)
   PUBMED   11090341
REFERENCE   6  (residues 1 to 1079)
  AUTHORS   Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA,
            Hejtmancik JF, Sheffield VC and Smith RJ.
  TITLE     Localization of the Usher syndrome type ID gene (Ush1D) to
            chromosome 10
  JOURNAL   Hum Mol Genet 5 (10), 1689-1692 (1996)
   PUBMED   8894709
REFERENCE   7  (residues 1 to 1079)
  AUTHORS   Chaib H, Place C, Salem N, Dode C, Chardenoux S, Weissenbach J, el
            Zir E, Loiselet J and Petit C.
  TITLE     Mapping of DFNB12, a gene for a non-syndromal autosomal recessive
            deafness, to chromosome 10q21-22
  JOURNAL   Hum Mol Genet 5 (7), 1061-1064 (1996)
   PUBMED   8817348
REFERENCE   8  (residues 1 to 1079)
  AUTHORS   Shearer,A.E., Hildebrand,M.S. and Smith,R.J.H.
  TITLE     Hereditary Hearing Loss and Deafness Overview
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
REFERENCE   9  (residues 1 to 1079)
  AUTHORS   Koenekoop,R.K., Arriaga,M.A., Trzupek,K.M. and Lentz,J.J.
  TITLE     Usher Syndrome Type I
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301442
REFERENCE   10 (residues 1 to 1079)
  AUTHORS   Marres HA and Cremers CW.
  TITLE     Autosomal recessive nonsyndromal profound childhood deafness in a
            large pedigree. Audiometric features of the affected persons and
            the obligate carriers
  JOURNAL   Arch Otolaryngol Head Neck Surg 115 (5), 591-595 (1989)
   PUBMED   2706105
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY563165.1, AL731541.6,
            AY563161.1 and BM673126.1.
            
            Summary: This gene is a member of the cadherin superfamily, whose
            genes encode calcium dependent cell-cell adhesion glycoproteins.
            The encoded protein is thought to be involved in stereocilia
            organization and hair bundle formation. The gene is located in a
            region containing the human deafness loci DFNB12 and USH1D. Usher
            syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12
            are caused by allelic mutations of this cadherin-like gene.
            Upregulation of this gene may also be associated with breast
            cancer. Alternative splice variants encoding different isoforms
            have been described. [provided by RefSeq, May 2013].
            
            Transcript Variant: This variant (7) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream start codon, compared to variant 1. This variant also
            lacks an in-frame exon in the 3' coding region compared to variant
            1. The encoded isoform (7, also referred to as isoform B2) is
            shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY563166.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145245, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1079
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     Protein         1..1079
                     /product="cadherin-23 isoform 7"
                     /note="cadherin-like 23; cadherin-related family member
                     23; otocadherin"
                     /calculated_mol_wt=119438
     Region          <2..49
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Region          61..158
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(67..68,121,123,154,156..157)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          166..264
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(173..174,224,226,261,263..264)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          273..367
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(280..281,332,363,365..366)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          380..478
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(384..385,440,442,474,476..477)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          495..601
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(499..500,552,554,598,600..601)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          610..711
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     CDS             1..1079
                     /gene="CDH23"
                     /gene_synonym="CDHR23; PITA5; USH1D"
                     /coded_by="NM_001171934.1:318..3557"
                     /note="isoform 7 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS73146.1"
                     /db_xref="GeneID:64072"
                     /db_xref="HGNC:HGNC:13733"
                     /db_xref="MIM:605516"
ORIGIN      
        1 mvkspmnrel vatyevtlsv idnasdlper svsvpnaklt vnvldvndnt pqfkpfgity
       61 ymerilegat pgttliavaa vdpdkglngl vtytlldlvp pgyvqledss agkvianrtv
      121 dyeevhwlnf tvrasdngsp praaeipvyl eivdindnnp ifdqpsyqea vfedvpvgti
      181 iltvtatdad sgnfalieys lgdgeskfai npttgdiyvl ssldrekkdh yiltalakdn
      241 pgdvasnrre nsvqvviqvl dvndcrpqfs kpqfstsvye nepagtsvit mmatdqdegp
      301 ngeltysleg pgveafhvdm dsglvttqrp lqsyekfslt vvatdggepp lwgttmllve
      361 vidvndnrpv fvrppngtil hireeiplrs nvyevyatdk deglngavry sflktagnrd
      421 weffiidpis gliqtaqrld resqavysli lvasdlgqpv pyetmqplqv alediddnep
      481 lfvrppkgsp qyqlltvpeh sprgtlvgnv tgavdadegp naivyyfiaa gneeknfhlq
      541 pdgcllvlrd ldrereaifs fivkassnrs wtpprgpspt ldlvadltlq evrvvledin
      601 dqpprftkae ytagvatdak vgseliqvla ldadignnsl vfysilaihy fralandsed
      661 vgqvftmgsm dgilrtfdlf mayspgyfvv divardlagh ndtaiigiyi lrddqrvkiv
      721 ineipdrvrg feeefihlls nitgaivntd nvqfhvdkkg rvnfaqtell ihvvnrdtnr
      781 ildvdrviqm idenkeqlrn lfrnynvldv qpaisvrlpd dmsalqmaii vlaillflaa
      841 mlfvlmnwyy rtvhkrklka ivagsagnrg fidimdmpnt nkysfdganp vwldpfcrnl
      901 elaaqaehed dlpenlseia dlwnsptrth gtfgrepaav kpdddrylra aiqeydniak
      961 lgqiiregpi kliqteldee pgdhspgqgs lrfrhkppve lkgpdgihvv hgstgtllat
     1021 dlnslpeedq kglgrsletl taaeatafer nartesakst plhklrdvim etpleitel
//
LOCUS       NP_001333462             288 aa            linear   PRI 22-DEC-2022
DEFINITION  failed axon connections homolog isoform 2 [Homo sapiens].
ACCESSION   NP_001333462
VERSION     NP_001333462.1
DBSOURCE    REFSEQ: accession NM_001346533.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 288)
  AUTHORS   McGue M, Zhang Y, Miller MB, Basu S, Vrieze S, Hicks B, Malone S,
            Oetting WS and Iacono WG.
  TITLE     A genome-wide association study of behavioral disinhibition
  JOURNAL   Behav Genet 43 (5), 363-373 (2013)
   PUBMED   23942779
REFERENCE   2  (residues 1 to 288)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD,
            Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker
            DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP,
            Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY,
            Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman
            LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M,
            Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD,
            Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ,
            Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S,
            Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL,
            Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL,
            Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson
            CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK,
            Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR,
            Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M,
            Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A,
            Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K,
            Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore
            B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM,
            Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith
            M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G,
            Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A,
            Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL,
            Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt
            JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard
            T, Sulston JE, Dunham I, Rogers J and Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   3  (residues 1 to 288)
  AUTHORS   Hill KK, Bedian V, Juang JL and Hoffmann FM.
  TITLE     Genetic interactions between the Drosophila Abelson (Abl) tyrosine
            kinase and failed axon connections (fax), a novel protein in axon
            bundles
  JOURNAL   Genetics 141 (2), 595-606 (1995)
   PUBMED   8647396
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL034371.16.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.227459.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968540,
                                           SAMEA1968832 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..288
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q16.2"
     Protein         1..288
                     /product="failed axon connections homolog isoform 2"
                     /calculated_mol_wt=33294
     Region          2..91
                     /region_name="GST_N_4"
                     /note="Glutathione S-transferase N-terminal domain;
                     pfam17172"
                     /db_xref="CDD:435765"
     Region          142..205
                     /region_name="GST_C_6"
                     /note="Glutathione S-transferase, C-terminal domain;
                     pfam17171"
                     /db_xref="CDD:435764"
     CDS             1..288
                     /gene="FAXC"
                     /gene_synonym="C6orf168; dJ273F20"
                     /coded_by="NM_001346533.1:358..1224"
                     /note="isoform 2 is encoded by transcript variant 7"
                     /db_xref="GeneID:84553"
                     /db_xref="HGNC:HGNC:20742"
ORIGIN      
        1 metylrmadl pyqnyfggkl saqgkmpwie ynhekvsgte fiidfleekl gvnlnknlgp
       61 heraisravt kmveehfywt laycqwvdnl netrkmlsls gggpfsnllr wvvchitkgi
      121 vkremhghgi grfseeeiym lmekdmrsla gllgdkkyim gpklstldat vfghlaqamw
      181 tlpgtrperl ikgelinlam ycerirrkfw pewhhdddnt iyeseesseg skthtplldf
      241 sfysrtetfe degaensfsr tpdtdftghs lfdsdvdmdd ytdheqck
//
LOCUS       NP_001336058             173 aa            linear   PRI 23-DEC-2022
DEFINITION  coiled-coil domain-containing protein 24 isoform 4 [Homo sapiens].
ACCESSION   NP_001336058 XP_016855935
VERSION     NP_001336058.1
DBSOURCE    REFSEQ: accession NM_001349129.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 173)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL139220.13.
            On Mar 4, 2017 this sequence version replaced XP_016855935.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.12894.1,
                                           SRR1163657.441282.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..173
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     Protein         1..173
                     /product="coiled-coil domain-containing protein 24 isoform
                     4"
                     /note="coiled-coil domain-containing protein 24"
                     /calculated_mol_wt=18824
     Region          <7..72
                     /region_name="CCDC24"
                     /note="Coiled-coil domain-containing protein 24 family;
                     pfam15669"
                     /db_xref="CDD:434844"
     CDS             1..173
                     /gene="CCDC24"
                     /coded_by="NM_001349129.1:256..777"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:149473"
                     /db_xref="HGNC:HGNC:28688"
ORIGIN      
        1 mrgggpsghr dlsiikdqln vsnidqvarh lrglleeech tlereililq rcleeeylrp
       61 chpseaalep tlaelkeqkk ameqelqasv gpscvspnhr qrplgsstqg lrpplplcgv
      121 aplqcclpap plepylrprg qsathrwgrq lqcspregpa stpmssaapq apa
//
LOCUS       NP_005137                800 aa            linear   PRI 24-DEC-2022
DEFINITION  U4/U6.U5 tri-snRNP-associated protein 1 [Homo sapiens].
ACCESSION   NP_005137
VERSION     NP_005137.1
DBSOURCE    REFSEQ: accession NM_005146.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 800)
  AUTHORS   Pan T, Zhou Q, Miao K, Zhang L, Wu G, Yu J, Xu Y, Xiong W, Li Y and
            Wang Y.
  TITLE     Suppressing Sart1 to modulate macrophage polarization by
            siRNA-loaded liposomes: a promising therapeutic strategy for
            pulmonary fibrosis
  JOURNAL   Theranostics 11 (3), 1192-1206 (2021)
   PUBMED   33391530
  REMARK    GeneRIF: Suppressing Sart1 to modulate macrophage polarization by
            siRNA-loaded liposomes: a promising therapeutic strategy for
            pulmonary fibrosis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 800)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 800)
  AUTHORS   Green YS, Sargis T, Reichert EC, Rudasi E, Fuja D, Jonasch E and
            Koh MY.
  TITLE     Hypoxia-Associated Factor (HAF) Mediates Neurofibromin
            Ubiquitination and Degradation Leading to Ras-ERK Pathway
            Activation in Hypoxia
  JOURNAL   Mol Cancer Res 17 (5), 1220-1232 (2019)
   PUBMED   30705246
  REMARK    GeneRIF: Patients with clear cell renal carcinoma with high HAF
            transcript or protein levels showed significantly decreased overall
            survival compared with those with low HAF. Functional study shows
            that HAF promotes neurofibromin ubiquitination and degradation
            independently of oxygen and pVHL, resulting in Ras-ERK pathway
            activation.
REFERENCE   4  (residues 1 to 800)
  AUTHORS   Charenton C, Wilkinson ME and Nagai K.
  TITLE     Mechanism of 5' splice site transfer for human spliceosome
            activation
  JOURNAL   Science 364 (6438), 362-367 (2019)
   PUBMED   30975767
REFERENCE   5  (residues 1 to 800)
  AUTHORS   Bertram K, Agafonov DE, Dybkov O, Haselbach D, Leelaram MN, Will
            CL, Urlaub H, Kastner B, Luhrmann R and Stark H.
  TITLE     Cryo-EM Structure of a Pre-catalytic Human Spliceosome Primed for
            Activation
  JOURNAL   Cell 170 (4), 701-713 (2017)
   PUBMED   28781166
REFERENCE   6  (residues 1 to 800)
  AUTHORS   Ishida H, Komiya S, Inoue Y, Yutani S, Inoue A and Itoh K.
  TITLE     Expression of the SART1 tumor-rejection antigen in human
            osteosarcomas
  JOURNAL   Int J Oncol 17 (1), 29-32 (2000)
   PUBMED   10853014
REFERENCE   7  (residues 1 to 800)
  AUTHORS   Matsunaga K, Nakao M, Masuoka K, Inoue Y, Gouhara R, Imaizumi T,
            Nishizaka S and Itoh K.
  TITLE     Cytokines required for induction of histocompatibility leukocyte
            antigen-class I-restricted and tumor-specific cytotoxic T
            lymphocytes by a SART1-derived peptide
  JOURNAL   Jpn J Cancer Res 90 (9), 1007-1015 (1999)
   PUBMED   10551332
REFERENCE   8  (residues 1 to 800)
  AUTHORS   Kikuchi M, Nakao M, Inoue Y, Matsunaga K, Shichijo S, Yamana H and
            Itoh K.
  TITLE     Identification of a SART-1-derived peptide capable of inducing
            HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes
  JOURNAL   Int J Cancer 81 (3), 459-466 (1999)
   PUBMED   10209962
REFERENCE   9  (residues 1 to 800)
  AUTHORS   Valenta R, Natter S, Seiberler S, Wichlas S, Maurer D, Hess M,
            Pavelka M, Grote M, Ferreira F, Szepfalusi Z, Valent P and Stingl
            G.
  TITLE     Molecular characterization of an autoallergen, Hom s 1, identified
            by serum IgE from atopic dermatitis patients
  JOURNAL   J Invest Dermatol 111 (6), 1178-1183 (1998)
   PUBMED   9856836
REFERENCE   10 (residues 1 to 800)
  AUTHORS   Shichijo S, Nakao M, Imai Y, Takasu H, Kawamoto M, Niiya F, Yang D,
            Toh Y, Yamana H and Itoh K.
  TITLE     A gene encoding antigenic peptides of human squamous cell carcinoma
            recognized by cytotoxic T lymphocytes
  JOURNAL   J Exp Med 187 (3), 277-288 (1998)
   PUBMED   9449708
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU136920.1, AB006198.1 and
            AP006287.2.
            
            Summary: This gene encodes two proteins, the SART1(800) protein
            expressed in the nucleus of the majority of proliferating cells,
            and the SART1(259) protein expressed in the cytosol of epithelial
            cancers. The SART1(259) protein is translated by the mechanism of
            -1 frameshifting during posttranscriptional regulation; its
            full-length sequence is not published yet. The two encoded proteins
            are thought to be involved in the regulation of proliferation. Both
            proteins have tumor-rejection antigens. The SART1(259) protein
            possesses tumor epitopes capable of inducing HLA-A2402-restricted
            cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen
            may be useful in specific immunotherapy for cancer patients and may
            serve as a paradigmatic tool for the diagnosis and treatment of
            patients with atopy. The SART1(259) protein is found to be
            essential for the recruitment of the tri-snRNP to the
            pre-spliceosome in the spliceosome assembly pathway. [provided by
            RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.130432.1,
                                           SRR1660807.226377.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000312397.10/ ENSP00000310448.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..800
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     Protein         1..800
                     /product="U4/U6.U5 tri-snRNP-associated protein 1"
                     /note="squamous cell carcinoma antigen recognised by T
                     cells; small nuclear ribonucleoprotein 110kDa (U4/U6.U5);
                     U4/U6.U5 tri-snRNP-associated 110 kDa protein; IgE
                     autoantigen; SART1(259) protein; SART1(800) protein;
                     squamous cell carcinoma antigen recognized by T-cells 1;
                     hypoxia associated factor; SART-1; hSnu66; hSART-1; SNU66
                     homolog; SART1, U4/U6.U5 tri-snRNP-associated protein 1"
                     /calculated_mol_wt=90124
     Region          1..120
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43290.1)"
     Region          117..137
                     /region_name="HIND"
                     /note="HIND motif; pfam19252"
                     /db_xref="CDD:437084"
     Region          165..753
                     /region_name="SART-1"
                     /note="SART-1 family; pfam03343"
                     /db_xref="CDD:427251"
     Site            189
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z315; propagated from
                     UniProtKB/Swiss-Prot (O43290.1)"
     Region          311..330
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43290.1)"
     Site            321
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43290.1)"
     Site            348
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43290.1)"
     Site            392
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43290.1)"
     Region          419..497
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43290.1)"
     Site            430
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O43290.1)"
     Site            448
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O43290.1)"
     Site            474
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O43290.1)"
     Site            486
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O43290.1)"
     Site            521
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O43290.1)"
     Region          571..604
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43290.1)"
     Site            591
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O43290.1)"
     Site            596
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O43290.1)"
     Site            598
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O43290.1)"
     Site            621
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O43290.1)"
     Site            695
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (O43290.1)"
     Site            761
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43290.1)"
     Site            764
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (O43290.1)"
     Site            789
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43290.1)"
     CDS             1..800
                     /gene="SART1"
                     /gene_synonym="Ara1; HAF; HOMS1; SART1259; SNRNP110;
                     Snu66"
                     /coded_by="NM_005146.5:48..2450"
                     /db_xref="CCDS:CCDS31611.1"
                     /db_xref="GeneID:9092"
                     /db_xref="HGNC:HGNC:10538"
                     /db_xref="MIM:605941"
ORIGIN      
        1 mgsskkhrge keaagttaaa gtggateqpp rhrehkkhkh rsggsggsgg errkrsrerg
       61 gergsgrrga eaearssthg rersqaepse rrvkrekrdd gyeaaasskt ssgdasslsi
      121 eetnklrakl glkplevnai kkeagtkeep vtadvinpma lrqreelrek laaakekrll
      181 nqklgkiktl geddpwlddt aawiersrql qkekdlaekr aklleemdqe fgvstlveee
      241 fgqrrqdlys ardlqgltve haidsfrege tmiltlkdkg vlqeeedvlv nvnlvdkera
      301 eknvelrkkk pdylpyaede svddlaqqkp rsilskydee legerphsfr leqggtadgl
      361 rereleeira klrlqaqsls tvgprlasey ltpeemvtfk ktkrrvkkir kkekevvvra
      421 ddllplgdqt qdgdfgsrlr grgrrrvsev eeekepvpqp lpsddtrven mdisdeeegg
      481 apppgspqvl eedeaelelq kqlekgrrlr qlqqlqqlrd sgekvveivk klesrqrgwe
      541 ededperkga ivfnatsefc rtlgeiptyg lagnreeqee lmdferdeer sanggsesdg
      601 eenigwstvn ldeekqqqdf sassttilde epivnrglaa alllcqnkgl lettvqkvar
      661 vkapnkslps avyciedkma iddkysrree yrgftqdfke kdgykpdvki eyvdetgrkl
      721 tpkeafrqls hrfhgkgsgk mkterrmkkl deeallkkms ssdtplgtva llqekqkaqk
      781 tpyivlsgsg ksmnantitk
//
LOCUS       NP_055167                436 aa            linear   PRI 24-DEC-2022
DEFINITION  POU domain, class 2, transcription factor 3 isoform 1 [Homo
            sapiens].
ACCESSION   NP_055167
VERSION     NP_055167.2
DBSOURCE    REFSEQ: accession NM_014352.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 436)
  AUTHORS   Szczepanski AP, Tsuboyama N, Watanabe J, Hashizume R, Zhao Z and
            Wang L.
  TITLE     POU2AF2/C11orf53 functions as a coactivator of POU2F3 by
            maintaining chromatin accessibility and enhancer activity
  JOURNAL   Sci Adv 8 (40), eabq2403 (2022)
   PUBMED   36197978
  REMARK    GeneRIF: POU2AF2/C11orf53 functions as a coactivator of POU2F3 by
            maintaining chromatin accessibility and enhancer activity.
REFERENCE   2  (residues 1 to 436)
  AUTHORS   Baine MK, Febres-Aldana CA, Chang JC, Jungbluth AA, Sethi S,
            Antonescu CR, Travis WD, Hsieh MS, Roh MS, Homer RJ, Ladanyi M,
            Egger JV, Lai WV, Rudin CM and Rekhtman N.
  TITLE     POU2F3 in SCLC: Clinicopathologic and Genomic Analysis With a Focus
            on Its Diagnostic Utility in Neuroendocrine-Low SCLC
  JOURNAL   J Thorac Oncol 17 (9), 1109-1121 (2022)
   PUBMED   35760287
  REMARK    GeneRIF: POU2F3 in SCLC: Clinicopathologic and Genomic Analysis
            With a Focus on Its Diagnostic Utility in Neuroendocrine-Low SCLC.
REFERENCE   3  (residues 1 to 436)
  AUTHORS   Wu XS, He XY, Ipsaro JJ, Huang YH, Preall JB, Ng D, Shue YT, Sage
            J, Egeblad M, Joshua-Tor L and Vakoc CR.
  TITLE     OCA-T1 and OCA-T2 are coactivators of POU2F3 in the tuft cell
            lineage
  JOURNAL   Nature 607 (7917), 169-175 (2022)
   PUBMED   35576971
  REMARK    GeneRIF: OCA-T1 and OCA-T2 are coactivators of POU2F3 in the tuft
            cell lineage.
REFERENCE   4  (residues 1 to 436)
  AUTHORS   Yamada Y, Sugimoto A, Hoki M, Yoshizawa A, Hamaji M, Date H, Haga H
            and Marx A.
  TITLE     POU2F3 beyond thymic carcinomas: expression across the spectrum of
            thymomas hints to medullary differentiation in type A thymoma
  JOURNAL   Virchows Arch 480 (4), 843-851 (2022)
   PUBMED   34988657
  REMARK    GeneRIF: POU2F3 beyond thymic carcinomas: expression across the
            spectrum of thymomas hints to medullary differentiation in type A
            thymoma.
            Erratum:[Virchows Arch. 2022 Jan 19;:. PMID: 35043237]
REFERENCE   5  (residues 1 to 436)
  AUTHORS   Zhang Z, Huettner PC, Nguyen L, Bidder M, Funk MC, Li J and Rader
            JS.
  TITLE     Aberrant promoter methylation and silencing of the POU2F3 gene in
            cervical cancer
  JOURNAL   Oncogene 25 (39), 5436-5445 (2006)
   PUBMED   16607278
  REMARK    GeneRIF: POU2F3 in cervical cancer cells may be CC-related tumor
            suppressor genes, which are disrupted by both epigenetic and
            genetic mechanisms.
REFERENCE   6  (residues 1 to 436)
  AUTHORS   Sugihara TM, Kudryavtseva EI, Kumar V, Horridge JJ and Andersen B.
  TITLE     The POU domain factor Skin-1a represses the keratin 14 promoter
            independent of DNA binding. A possible role for interactions
            between Skn-1a and CREB-binding protein/p300
  JOURNAL   J Biol Chem 276 (35), 33036-33044 (2001)
   PUBMED   11429405
REFERENCE   7  (residues 1 to 436)
  AUTHORS   Hildesheim J, Kuhn U, Yee CL, Foster RA, Yancey KB and Vogel JC.
  TITLE     The hSkn-1a POU transcription factor enhances epidermal
            stratification by promoting keratinocyte proliferation
  JOURNAL   J Cell Sci 114 (Pt 10), 1913-1923 (2001)
   PUBMED   11329378
REFERENCE   8  (residues 1 to 436)
  AUTHORS   Hildesheim J, Foster RA, Chamberlin ME and Vogel JC.
  TITLE     Characterization of the regulatory domains of the human
            skn-1a/Epoc-1/Oct-11 POU transcription factor
  JOURNAL   J Biol Chem 274 (37), 26399-26406 (1999)
   PUBMED   10473598
REFERENCE   9  (residues 1 to 436)
  AUTHORS   Andersen B, Weinberg WC, Rennekampff O, McEvilly RJ, Bermingham JR
            Jr, Hooshmand F, Vasilyev V, Hansbrough JF, Pittelkow MR, Yuspa SH
            and Rosenfeld MG.
  TITLE     Functions of the POU domain genes Skn-1a/i and Tst-1/Oct-6/SCIP in
            epidermal differentiation
  JOURNAL   Genes Dev 11 (14), 1873-1884 (1997)
   PUBMED   9242494
REFERENCE   10 (residues 1 to 436)
  AUTHORS   Goldsborough AS, Healy LE, Copeland NG, Gilbert DJ, Jenkins NA,
            Willison KR and Ashworth A.
  TITLE     Cloning, chromosomal localization and expression pattern of the POU
            domain gene Oct-11
  JOURNAL   Nucleic Acids Res 21 (1), 127-134 (1993)
   PUBMED   8441607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000679.7, AK291993.1,
            BC101649.1 and AP001150.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 7, 2007 this sequence version replaced NP_055167.1.
            
            Summary: This gene encodes a member of the POU domain family of
            transcription factors. POU domain transcription factors bind to a
            specific octamer DNA motif and regulate cell type-specific
            differentiation pathways. The encoded protein is primarily
            expressed in the epidermis, and plays a critical role in
            keratinocyte proliferation and differentiation. The encoded protein
            is also a candidate tumor suppressor protein, and aberrant promoter
            methylation of this gene may play a role in cervical cancer.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Sep
            2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the shorter isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF133895.1, AF162278.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144333, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000543440.7/ ENSP00000441687.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..436
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     Protein         1..436
                     /product="POU domain, class 2, transcription factor 3
                     isoform 1"
                     /note="POU domain, class 2, transcription factor 3;
                     octamer-binding protein 11; transcription factor PLA-1;
                     transcription factor Skn-1; octamer-binding transcription
                     factor 11; POU domain transcription factor OCT11a"
                     /calculated_mol_wt=47301
     Region          1..40
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKI9.3)"
     Region          140..186
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKI9.3)"
     Region          183..257
                     /region_name="POU"
                     /note="Found in Pit-Oct-Unc transcription factors;
                     smart00352"
                     /db_xref="CDD:197673"
     Region          256..278
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKI9.3)"
     Site            order(282..286,288,305,311,324,326..327,330..331,333..335,
                     337..338)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          284..337
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     Site            order(284,287,327,330..331,334)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          363..421
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKI9.3)"
     CDS             1..436
                     /gene="POU2F3"
                     /gene_synonym="Epoc-1; OCT-11; OCT11; OTF-11; PLA-1; PLA1;
                     Skn-1a"
                     /coded_by="NM_014352.4:205..1515"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS8431.1"
                     /db_xref="GeneID:25833"
                     /db_xref="HGNC:HGNC:19864"
                     /db_xref="MIM:607394"
ORIGIN      
        1 mvnlesmhtd ikmsgdvads tdarstlsqv epgndrngld fnrqiktedl sdslqqtlsh
       61 rpchlsqgpa mmsgnqmsgl naspcqdmas lhplqqlvlv pghlqsvsqf llsqtqpgqq
      121 glqpnllpfp qqqsglllpq tgpglasqaf ghpglpgssl ephleasqhl pvpkhlpssg
      181 gadepsdlee lekfaktfkq rriklgftqg dvglamgkly gndfsqttis rfealnlsfk
      241 nmcklkplle kwlndaessp sdpsvstpss ypslsevfgr krkkrtsiet nirltlekrf
      301 qdnpkpssee ismiaeqlsm ekevvrvwfc nrrqkekrin cpvatpikpp vynsrlvsps
      361 gslgplsvpp vhstmpgtvt sscspgnnsr psspgsglha ssptasqnns kaavnsassf
      421 nssgswyrwn hstylh
//
LOCUS       NP_065693                210 aa            linear   PRI 24-DEC-2022
DEFINITION  A-kinase-interacting protein 1 isoform a [Homo sapiens].
ACCESSION   NP_065693
VERSION     NP_065693.2
DBSOURCE    REFSEQ: accession NM_020642.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 210)
  AUTHORS   Zhu L, Gao T, Huang Y, Jin J, Wang D, Zhang L, Jin Y, Li P, Hu Y,
            Wu Y, Liu H, Dong Q, Wang G, Zheng T, Song C, Bai Y, Zhang X, Liu
            Y, Yang W, Xu K, Zou G, Zhao L, Cao R, Zhong W, Xia X, Xiao G, Liu
            X and Cao C.
  TITLE     Ebola virus VP35 hijacks the PKA-CREB1 pathway for replication and
            pathogenesis by AKIP1 association
  JOURNAL   Nat Commun 13 (1), 2256 (2022)
   PUBMED   35474062
  REMARK    GeneRIF: Ebola virus VP35 hijacks the PKA-CREB1 pathway for
            replication and pathogenesis by AKIP1 association.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 210)
  AUTHORS   Chen Z, Wen H, Zhang J, Zou X and Wu S.
  TITLE     Silencing of AKIP1 Suppresses the Proliferation, Migration, and
            Epithelial-Mesenchymal Transition Process of Glioma Cells by
            Upregulating DLG2
  JOURNAL   Biomed Res Int 2022, 5648011 (2022)
   PUBMED   35111846
  REMARK    GeneRIF: Silencing of AKIP1 Suppresses the Proliferation,
            Migration, and Epithelial-Mesenchymal Transition Process of Glioma
            Cells by Upregulating DLG2.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 210)
  AUTHORS   Yulia A, Singh N, Varley AJ, Lei K, Markovic D, Sooranna SR and
            Johnson MR.
  TITLE     PKA and AKIP1 interact to mediate cAMP-driven COX-2 expression: A
            potentially pivotal interaction in preterm and term labour
  JOURNAL   PLoS One 16 (6), e0252720 (2021)
   PUBMED   34166397
  REMARK    GeneRIF: PKA and AKIP1 interact to mediate cAMP-driven COX-2
            expression: A potentially pivotal interaction in preterm and term
            labour.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 210)
  AUTHORS   Sun Y, Shi G, Ma C, Jiao J, Liu Y, Gao Q, Zhang X and Feng Q.
  TITLE     Upregulation of a kinase interacting protein 1 in tongue squamous
            cell carcinoma correlates with lymph node metastasis and poor
            overall survival
  JOURNAL   Medicine (Baltimore) 100 (14), e25278 (2021)
   PUBMED   33832094
  REMARK    GeneRIF: Upregulation of a kinase interacting protein 1 in tongue
            squamous cell carcinoma correlates with lymph node metastasis and
            poor overall survival.
REFERENCE   5  (residues 1 to 210)
  AUTHORS   Shen S and Yao Y.
  TITLE     A-kinase interacting protein 1 is sufficiently expressed and
            positively associates with WHO grade, meanwhile predicts
            unfavorable overall survival independently in glioma patients
  JOURNAL   Medicine (Baltimore) 100 (4), e20426 (2021)
   PUBMED   33530151
  REMARK    GeneRIF: A-kinase interacting protein 1 is sufficiently expressed
            and positively associates with WHO grade, meanwhile predicts
            unfavorable overall survival independently in glioma patients.
REFERENCE   6  (residues 1 to 210)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 210)
  AUTHORS   Gao N, Asamitsu K, Hibi Y, Ueno T and Okamoto T.
  TITLE     AKIP1 enhances NF-kappaB-dependent gene expression by promoting the
            nuclear retention and phosphorylation of p65
  JOURNAL   J Biol Chem 283 (12), 7834-7843 (2008)
   PUBMED   18178962
  REMARK    GeneRIF: AKIP1 colocalized with p65 within the cells and appeared
            to retain p65 in nucleus.
REFERENCE   8  (residues 1 to 210)
  AUTHORS   Sastri M, Barraclough DM, Carmichael PT and Taylor SS.
  TITLE     A-kinase-interacting protein localizes protein kinase A in the
            nucleus
  JOURNAL   Proc Natl Acad Sci U S A 102 (2), 349-354 (2005)
   PUBMED   15630084
  REMARK    GeneRIF: AKIP1 describes a PKA-interacting protein that can
            contribute to localization by a mechanism that is distinct from
            A-kinase anchoring proteins that interact with the regulatory
            subunits.
REFERENCE   9  (residues 1 to 210)
  AUTHORS   Kitching R, Li H, Wong MJ, Kanaganayakam S, Kahn H and Seth A.
  TITLE     Characterization of a novel human breast cancer associated gene
            (BCA3) encoding an alternatively spliced proline-rich protein
  JOURNAL   Biochim Biophys Acta 1625 (1), 116-121 (2003)
   PUBMED   12527432
  REMARK    GeneRIF: characterization of the BCA3 gene; BCA3 is expressed in
            breast tumor cells in vivo, and not in surrounding stromal tissue
REFERENCE   10 (residues 1 to 210)
  AUTHORS   Amid C, Bahr A, Mujica A, Sampson N, Bikar SE, Winterpacht A, Zabel
            B, Hankeln T and Schmidt ER.
  TITLE     Comparative genomic sequencing reveals a strikingly similar
            architecture of a conserved syntenic region on human chromosome
            11p15.3 (including gene ST5) and mouse chromosome 7
  JOURNAL   Cytogenet Cell Genet 93 (3-4), 284-290 (2001)
   PUBMED   11528127
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF493783.1 and AC026894.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 10, 2002 this sequence version replaced NP_065693.1.
            
            Summary: This gene encodes a nuclear protein that interacts with
            protein kinase A catalytic subunit, and regulates the effect of the
            cAMP-dependent protein kinase signaling pathway on the NF-kappa-B
            activation cascade. Alternatively spliced transcript variants have
            been described for this gene. [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF493783.1, SRR7346977.237944.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309377.9/ ENSP00000310459.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..210
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..210
                     /product="A-kinase-interacting protein 1 isoform a"
                     /note="breast cancer associated gene 3; proline-rich
                     protein BCA3; koyt binding protein 1; koyt binding protein
                     2; koyt binding protein 3; A kinase (PRKA) interacting
                     protein 1"
                     /calculated_mol_wt=22983
     Region          58..80
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ31.2)"
     Region          136..162
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ31.2)"
     CDS             1..210
                     /gene="AKIP1"
                     /gene_synonym="BCA3; C11orf17"
                     /coded_by="NM_020642.4:42..674"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7793.1"
                     /db_xref="GeneID:56672"
                     /db_xref="HGNC:HGNC:1170"
                     /db_xref="MIM:609191"
ORIGIN      
        1 mdnclaaaal ngvdrrslqr sarlalevle rakrravdwh alerpkgcmg vlareaphle
       61 kqpaagpqrv lpgereerpp tlsasfrtma efmdytssqc gkyyssvpee ggathvyryh
      121 rgesklhmcl digngqrkdr kktslgpggs yqisehapea sqpaeniskd lyievypgty
      181 svtvgsndlt kkthvvavds gqsvdlvfpv
//
LOCUS       NP_067038                326 aa            linear   PRI 25-DEC-2022
DEFINITION  regulation of nuclear pre-mRNA domain-containing protein 1B [Homo
            sapiens].
ACCESSION   NP_067038
VERSION     NP_067038.1
DBSOURCE    REFSEQ: accession NM_021215.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 326)
  AUTHORS   Jia Y, Yan Q, Zheng Y, Li L, Zhang B, Chang Z, Wang Z, Tang H, Qin
            Y and Guan XY.
  TITLE     Long non-coding RNA NEAT1 mediated RPRD1B stability facilitates
            fatty acid metabolism and lymph node metastasis via
            c-Jun/c-Fos/SREBP1 axis in gastric cancer
  JOURNAL   J Exp Clin Cancer Res 41 (1), 287 (2022)
   PUBMED   36171622
  REMARK    GeneRIF: Long non-coding RNA NEAT1 mediated RPRD1B stability
            facilitates fatty acid metabolism and lymph node metastasis via
            c-Jun/c-Fos/SREBP1 axis in gastric cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 326)
  AUTHORS   Siril YJ, Kouketsu A, Saito H, Takahashi T and Kumamoto H.
  TITLE     Immunohistochemical expression levels of cyclin D1 and CREPT
            reflect the course and prognosis in oral precancerous lesions and
            squamous cell carcinoma
  JOURNAL   Int J Oral Maxillofac Surg 51 (1), 27-32 (2022)
   PUBMED   33838964
  REMARK    GeneRIF: Immunohistochemical expression levels of cyclin D1 and
            CREPT reflect the course and prognosis in oral precancerous lesions
            and squamous cell carcinoma.
REFERENCE   3  (residues 1 to 326)
  AUTHORS   Zhai W, Ye X, Wang Y, Feng Y, Wang Y, Lin Y, Ding L, Yang L, Wang
            X, Kuang Y, Fu X, Eugene Chin Y, Jia B, Zhu B, Ren F and Chang Z.
  TITLE     CREPT/RPRD1B promotes tumorigenesis through STAT3-driven gene
            transcription in a p300-dependent manner
  JOURNAL   Br J Cancer 124 (8), 1437-1448 (2021)
   PUBMED   33531691
  REMARK    GeneRIF: CREPT/RPRD1B promotes tumorigenesis through STAT3-driven
            gene transcription in a p300-dependent manner.
REFERENCE   4  (residues 1 to 326)
  AUTHORS   Yang G, Wang Y, Xiao J, Zhao F, Qiu J, Liu Y, Chen G, Cao Z, You L,
            Zheng L, Zhang T and Zhao Y.
  TITLE     CREPT serves as a biomarker of poor survival in pancreatic ductal
            adenocarcinoma
  JOURNAL   Cell Oncol (Dordr) 44 (2), 345-355 (2021)
   PUBMED   33125631
  REMARK    GeneRIF: CREPT serves as a biomarker of poor survival in pancreatic
            ductal adenocarcinoma.
REFERENCE   5  (residues 1 to 326)
  AUTHORS   Yang L, Yang H, Chu Y, Song Y, Ding L, Zhu B, Zhai W, Wang X, Kuang
            Y, Ren F, Jia B, Wu W, Ye X, Wang Y and Chang Z.
  TITLE     CREPT is required for murine stem cell maintenance during
            intestinal regeneration
  JOURNAL   Nat Commun 12 (1), 270 (2021)
   PUBMED   33431892
  REMARK    GeneRIF: CREPT is required for murine stem cell maintenance during
            intestinal regeneration.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 326)
  AUTHORS   Wang Y, Qiu H, Hu W, Li S and Yu J.
  TITLE     RPRD1B promotes tumor growth by accelerating the cell cycle in
            endometrial cancer
  JOURNAL   Oncol Rep 31 (3), 1389-1395 (2014)
   PUBMED   24452636
  REMARK    GeneRIF: RPRD1B overexpression promotes tumor growth and
            accelerates cell cycle progression.
REFERENCE   7  (residues 1 to 326)
  AUTHORS   Lu D, Wu Y, Wang Y, Ren F, Wang D, Su F, Zhang Y, Yang X, Jin G,
            Hao X, He D, Zhai Y, Irwin DM, Hu J, Sung JJ, Yu J, Jia B and Chang
            Z.
  TITLE     CREPT accelerates tumorigenesis by regulating the transcription of
            cell-cycle-related genes
  JOURNAL   Cancer Cell 21 (1), 92-104 (2012)
   PUBMED   22264791
  REMARK    GeneRIF: CREPT increases cyclin D1 transcription during
            tumorigenesis.
REFERENCE   8  (residues 1 to 326)
  AUTHORS   Ni Z, Olsen JB, Guo X, Zhong G, Ruan ED, Marcon E, Young P, Guo H,
            Li J, Moffat J, Emili A and Greenblatt JF.
  TITLE     Control of the RNA polymerase II phosphorylation state in promoter
            regions by CTD interaction domain-containing proteins RPRD1A and
            RPRD1B
  JOURNAL   Transcription 2 (5), 237-242 (2011)
   PUBMED   22231121
REFERENCE   9  (residues 1 to 326)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   10 (residues 1 to 326)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP359144.1, BC033629.1 and AK092567.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC033629.1, SRR1660805.10487.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373433.9/ ENSP00000362532.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..326
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     Protein         1..326
                     /product="regulation of nuclear pre-mRNA domain-containing
                     protein 1B"
                     /note="cell-cycle related and expression-elevated protein
                     in tumor; Ku70-binding protein 5-Hera"
                     /calculated_mol_wt=36769
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (Q9NQG5.1)"
     Region          3..131
                     /region_name="CID_RPRD1B"
                     /note="CID (CTD-Interacting Domain) of Regulation of
                     nuclear pre-mRNA domain-containing protein 1B; cd17012"
                     /db_xref="CDD:340809"
     Site            order(18..20,23,61,64..65,68..69,106,110,113..114)
                     /site_type="other"
                     /note="CTD binding site [polypeptide binding]"
                     /db_xref="CDD:340809"
     Region          127..149
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQG5.1)"
     Site            132
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9NQG5.1)"
     Site            134
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9NQG5.1)"
     Site            161
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9NQG5.1)"
     Site            166
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9NQG5.1)"
     Region          178..324
                     /region_name="CREPT"
                     /note="Cell-cycle alteration and expression-elevated
                     protein in tumor; pfam16566"
                     /db_xref="CDD:406870"
     Site            299
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q96P16; propagated from
                     UniProtKB/Swiss-Prot (Q9NQG5.1)"
     CDS             1..326
                     /gene="RPRD1B"
                     /gene_synonym="C20orf77; CREPT; dJ1057B20.2; K-H;
                     Kub5-Hera; NET60"
                     /coded_by="NM_021215.4:203..1183"
                     /db_xref="CCDS:CCDS13301.1"
                     /db_xref="GeneID:58490"
                     /db_xref="HGNC:HGNC:16209"
                     /db_xref="MIM:614694"
ORIGIN      
        1 mssfsesale kklselsnsq qsvqtlslwl ihhrkhagpi vsvwhrelrk aksnrkltfl
       61 ylandviqns krkgpeftre fesvlvdafs hvareadegc kkplerllni wqersvygge
      121 fiqqlklsme dskspppkat eekkslkrtf qqiqeeeddd ypgsyspqdp sagpllteel
      181 ikalqdlena asgdatvrqk iaslpqevqd vsllekitdk eaaerlsktv deaclllaey
      241 ngrlaaeled rrqlarmlve ytqnqkdvls ekekkleeyk qklarvtqvr kelkshiqsl
      301 pdlsllpnvt gglaplpsag dlfstd
//
LOCUS       NP_001275720             148 aa            linear   PRI 25-DEC-2022
DEFINITION  V-set and transmembrane domain-containing protein 1 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001275720
VERSION     NP_001275720.1
DBSOURCE    REFSEQ: accession NM_001288791.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 148)
  AUTHORS   Rumpret M, von Richthofen HJ, van der Linden M, Westerlaken GHA,
            Talavera Ormeno C, Low TY, Ovaa H and Meyaard L.
  TITLE     Recognition of S100 proteins by Signal Inhibitory Receptor on
            Leukocytes-1 negatively regulates human neutrophils
  JOURNAL   Eur J Immunol 51 (9), 2210-2217 (2021)
   PUBMED   34145909
  REMARK    GeneRIF: Recognition of S100 proteins by Signal Inhibitory Receptor
            on Leukocytes-1 negatively regulates human neutrophils.
REFERENCE   2  (residues 1 to 148)
  AUTHORS   von Richthofen HJ, Gollnast D, van Capel TMM, Giovannone B,
            Westerlaken GHA, Lutter L, Oldenburg B, Hijnen D, van der Vlist M,
            de Jong EC and Meyaard L.
  TITLE     Signal Inhibitory Receptor on Leukocytes-1 is highly expressed on
            lung monocytes, but absent on mononuclear phagocytes in skin and
            colon
  JOURNAL   Cell Immunol 357, 104199 (2020)
   PUBMED   32942189
  REMARK    GeneRIF: Signal Inhibitory Receptor on Leukocytes-1 is highly
            expressed on lung monocytes, but absent on mononuclear phagocytes
            in skin and colon.
REFERENCE   3  (residues 1 to 148)
  AUTHORS   Besteman SB, Callaghan A, Hennus MP, Westerlaken GHA, Meyaard L and
            Bont LL.
  TITLE     Signal inhibitory receptor on leukocytes (SIRL)-1 and leukocyte-
            associated immunoglobulin-like receptor (LAIR)-1 regulate
            neutrophil function in infants
  JOURNAL   Clin Immunol 211, 108324 (2020)
   PUBMED   31843567
  REMARK    GeneRIF: Signal inhibitory receptor on leukocytes (SIRL)-1 and
            leukocyte- associated immunoglobulin-like receptor (LAIR)-1
            regulate neutrophil function in infants.
REFERENCE   4  (residues 1 to 148)
  AUTHORS   Kumar D, Puan KJ, Andiappan AK, Lee B, Westerlaken GH, Haase D,
            Melchiotti R, Li Z, Yusof N, Lum J, Koh G, Foo S, Yeong J, Alves
            AC, Pekkanen J, Sun LD, Irwanto A, Fairfax BP, Naranbhai V, Common
            JE, Tang M, Chuang CK, Jarvelin MR, Knight JC, Zhang X, Chew FT,
            Prabhakar S, Jianjun L, Wang Y, Zolezzi F, Poidinger M, Lane EB,
            Meyaard L and Rotzschke O.
  TITLE     A functional SNP associated with atopic dermatitis controls cell
            type-specific methylation of the VSTM1 gene locus
  JOURNAL   Genome Med 9 (1), 18 (2017)
   PUBMED   28219444
  REMARK    GeneRIF: VSTM1 rs612529T is associated with a complete
            demethylation of the VSTM1 promoter and allele-specific
            upregulation of SIRL-1 expression in monocytes.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 148)
  AUTHORS   Van Avondt K, van der Linden M, Naccache PH, Egan DA and Meyaard L.
  TITLE     Signal Inhibitory Receptor on Leukocytes-1 Limits the Formation of
            Neutrophil Extracellular Traps, but Preserves Intracellular
            Bacterial Killing
  JOURNAL   J Immunol 196 (9), 3686-3694 (2016)
   PUBMED   27016607
  REMARK    GeneRIF: findings show that SIRL-1 attenuates neutrophil
            extracellular traps (NET) release by neutrophils in response to
            distinct triggers, including opsonized Staphylococcus aureus and
            inflammatory danger signals; define SIRL-1 as an intervention point
            of benefit to suppress neutrophil extracellular trap formation in
            disease while preserving intracellular antimicrobial defense
REFERENCE   6  (residues 1 to 148)
  AUTHORS   Van Avondt K, Fritsch-Stork R, Derksen RH and Meyaard L.
  TITLE     Ligation of signal inhibitory receptor on leukocytes-1 suppresses
            the release of neutrophil extracellular traps in systemic lupus
            erythematosus
  JOURNAL   PLoS One 8 (10), e78459 (2013)
   PUBMED   24205237
  REMARK    GeneRIF: Signaling via the inhibitory receptor SIRL-1 was induced
            by ligation with anti-SIRL-1 specific antibodies.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 148)
  AUTHORS   Steevels TA, van Avondt K, Westerlaken GH, Stalpers F, Walk J, Bont
            L, Coffer PJ and Meyaard L.
  TITLE     Signal inhibitory receptor on leukocytes-1 (SIRL-1) negatively
            regulates the oxidative burst in human phagocytes
  JOURNAL   Eur J Immunol 43 (5), 1297-1308 (2013)
   PUBMED   23436183
  REMARK    GeneRIF: SIRL-1 negatively regulates the oxidative burst in human
            phagocytes.
REFERENCE   8  (residues 1 to 148)
  AUTHORS   Steevels TA, Lebbink RJ, Westerlaken GH, Coffer PJ and Meyaard L.
  TITLE     Signal inhibitory receptor on leukocytes-1 is a novel functional
            inhibitory immune receptor expressed on human phagocytes
  JOURNAL   J Immunol 184 (9), 4741-4748 (2010)
   PUBMED   20375307
  REMARK    GeneRIF: Signal inhibitory receptor on leukocytes-1 is a member of
            immunoglobulin superfamily ITIM; expressed by myeloid but not
            lymphoid cells; requires both of its ITIMs for full inhibition of
            Fc epsilon receptor type I-mediated mast cell degranulation.
REFERENCE   9  (residues 1 to 148)
  AUTHORS   Zhang Z and Henzel WJ.
  TITLE     Signal peptide prediction based on analysis of experimentally
            verified cleavage sites
  JOURNAL   Protein Sci 13 (10), 2819-2824 (2004)
   PUBMED   15340161
REFERENCE   10 (residues 1 to 148)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N,
            Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar
            M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY358542.1, FJ584320.1, AC012314.8, FJ584317.1 and AI457604.1.
            
            Transcript Variant: This variant (2) lacks one exon and contains an
            alternate exon in the 5' coding region, which results in a
            frameshift and use of an alternate start codon, compared to variant
            1. The encoded isoform (2) has a shorter and distinct N-terminus,
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: FJ584320.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2163105
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..148
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..148
                     /product="V-set and transmembrane domain-containing
                     protein 1 isoform 2"
                     /note="signal inhibitory receptor on leukocytes-1; V-set
                     and transmembrane domain-containing protein 1; LAIR
                     homolog; OSCAR-like transcript-1"
                     /calculated_mol_wt=15986
     CDS             1..148
                     /gene="VSTM1"
                     /gene_synonym="SIRL-1; SIRL1; UNQ3033"
                     /coded_by="NM_001288791.2:176..622"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:284415"
                     /db_xref="HGNC:HGNC:29455"
                     /db_xref="MIM:616804"
ORIGIN      
        1 mrkrmgptrl prlecsgait ahcsldlpgp dkhdeleaps mktdtrtifv aifscisill
       61 lflsvfiiyr csqhssssee stkrtshskl peqeaaeadl snmervslst adpqgvtyae
      121 lstsalseaa sdttqeppgs heyaalkv
//
LOCUS       NP_001138531             148 aa            linear   PRI 25-DEC-2022
DEFINITION  IQ domain-containing protein F5 [Homo sapiens].
ACCESSION   NP_001138531 XP_001723415 XP_371643 XP_947645
VERSION     NP_001138531.1
DBSOURCE    REFSEQ: accession NM_001145059.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 148)
  AUTHORS   Xie T, Deng L, Mei P, Zhou Y, Wang B, Zhang J, Lin J, Wei Y, Zhang
            X and Xu R.
  TITLE     Genome-wide association study combining pathway analysis for
            typical sporadic amyotrophic lateral sclerosis in Chinese Han
            populations
  JOURNAL   Neurobiol Aging 35 (7), 1778 (2014)
   PUBMED   24529757
REFERENCE   2  (residues 1 to 148)
  AUTHORS   Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ,
            Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris
            RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM,
            Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A,
            Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ,
            Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang
            Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z,
            Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C,
            Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay
            ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X,
            Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M,
            Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV,
            Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper
            FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez
            J, Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L,
            Wang J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang
            X, Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor
            SL, Yang H, Olson M, Weinstock G and Gibbs RA.
  TITLE     The DNA sequence, annotation and analysis of human chromosome 3
  JOURNAL   Nature 440 (7088), 1194-1198 (2006)
   PUBMED   16641997
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC097636.2, BX106781.1 and AW138546.1.
            On or before Feb 9, 2009 this sequence version replaced
            XP_947645.1, XP_001723415.1, XP_371643.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX106781.1, SRR5189667.312543.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000446461.2/ ENSP00000394653.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..148
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.2"
     Protein         1..148
                     /product="IQ domain-containing protein F5"
                     /calculated_mol_wt=17917
     CDS             1..148
                     /gene="IQCF5"
                     /coded_by="NM_001145059.2:71..517"
                     /db_xref="CCDS:CCDS46838.1"
                     /db_xref="GeneID:389124"
                     /db_xref="HGNC:HGNC:35159"
ORIGIN      
        1 mgpeektimt ersaavfiqa wwrgmlvrrt llhaalrawi iqcwwrqvle kllakrrrmv
       61 lefyvqqewa avrlqswvrm wcvrqrycrl lnavriiqvy wrwhschsrv fieghyelke
      121 nqlniqleis lglqackvqq ciplplke
//
LOCUS       NP_663771                471 aa            linear   PRI 25-DEC-2022
DEFINITION  tigger transposable element-derived protein 3 [Homo sapiens].
ACCESSION   NP_663771
VERSION     NP_663771.1
DBSOURCE    REFSEQ: accession NM_145719.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 471)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 471)
  AUTHORS   Marshall OJ and Choo KH.
  TITLE     Putative CENP-B paralogues are not present at mammalian centromeres
  JOURNAL   Chromosoma 121 (2), 169-179 (2012)
   PUBMED   22080934
  REMARK    GeneRIF: The strongest candidate as CENP-B paralogue, TIGD3,
            demonstrated no native centromeric binding when using raised
            antibodies, either in human cells or in cenpb (-/-) mouse ES cells.
REFERENCE   3  (residues 1 to 471)
  AUTHORS   Guru,S.C., Agarwal,S.K., Manickam,P., Olufemi,S.E., Crabtree,J.S.,
            Weisemann,J.M., Kester,M.B., Kim,Y.S., Wang,Y., Emmert-Buck,M.R.,
            Liotta,L.A., Spiegel,A.M., Boguski,M.S., Roe,B.A., Collins,F.S.,
            Marx,S.J., Burns,L. and Chandrasekharappa,S.C.
  TITLE     A transcript map for the 2.8-Mb region containing the multiple
            endocrine neoplasia type 1 locus
  JOURNAL   Genome Res 7 (7), 725-735 (1997)
   PUBMED   9253601
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Hugh Robertson. The reference sequence was
            derived from AP000944.4, DR002049.1, BC074862.2 and BU741546.1.
            
            Summary: The protein encoded by this gene belongs to the tigger
            subfamily of the pogo superfamily of DNA-mediated transposons in
            humans. These proteins are related to DNA transposons found in
            fungi and nematodes, and more distantly to the Tc1 and mariner
            transposases. They are also very similar to the major mammalian
            centromere protein B. The exact function of this gene is not known.
            [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1124138.1,
                                           SRR3476690.1067199.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309880.6/ ENSP00000308354.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     Protein         1..471
                     /product="tigger transposable element-derived protein 3"
                     /calculated_mol_wt=51896
     Region          6..57
                     /region_name="HTH"
                     /note="Helix-turn-helix domains; cl21459"
                     /db_xref="CDD:451250"
     Region          76..133
                     /region_name="HTH_Tnp_Tc5"
                     /note="Tc5 transposase DNA-binding domain; pfam03221"
                     /db_xref="CDD:427202"
     Region          193..360
                     /region_name="rve"
                     /note="Integrase core domain; cl21549"
                     /db_xref="CDD:451305"
     CDS             1..471
                     /gene="TIGD3"
                     /coded_by="NM_145719.3:224..1639"
                     /db_xref="CCDS:CCDS8101.1"
                     /db_xref="GeneID:220359"
                     /db_xref="HGNC:HGNC:18334"
                     /db_xref="MIM:619084"
ORIGIN      
        1 melsskkklh alslaekiqv lelldeskms qsevarrfqv sqpqisrick nkeklladwc
       61 sgtanrerkr kreskysgid eallcwyhia rakawdvtgp mllhkakela dimgqdfvps
      121 igwlvrwkrr nnvgfgarhv lapsfppepp ppgltsqaql plslkdfspe dvfgcaelpl
      181 lyravpgsfg acdqvqvllc ansrgtekrr vllgglqaap rcffgirsea lpasyhpdlg
      241 ipwlewlaqf drdmgqqgrq valllaarvv eelaglpgly hvkllplaas sttpplpssv
      301 vrafkahyrh rllgklaaiq serdgtslae agagitvlda lhvasaawak vppqlifssf
      361 iqeglapgkt ppsshktsem ppvpgglsle efsrfvdleg eeprsgvcke eigtedekgd
      421 regafeplpt kadalralgt lrrwfecnst spelfekfyd ceeeverlcc l
//
LOCUS       NP_001354323            1255 aa            linear   PRI 25-DEC-2022
DEFINITION  WASH complex subunit 2C isoform 6 [Homo sapiens].
ACCESSION   NP_001354323 XP_016871509
VERSION     NP_001354323.1
DBSOURCE    REFSEQ: accession NM_001367394.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1255)
  AUTHORS   McNally KE, Faulkner R, Steinberg F, Gallon M, Ghai R, Pim D,
            Langton P, Pearson N, Danson CM, Nagele H, Morris LL, Singla A,
            Overlee BL, Heesom KJ, Sessions R, Banks L, Collins BM, Berger I,
            Billadeau DD, Burstein E and Cullen PJ.
  TITLE     Retriever is a multiprotein complex for retromer-independent
            endosomal cargo recycling
  JOURNAL   Nat Cell Biol 19 (10), 1214-1225 (2017)
   PUBMED   28892079
REFERENCE   2  (residues 1 to 1255)
  AUTHORS   Follett J, Bugarcic A, Yang Z, Ariotti N, Norwood SJ, Collins BM,
            Parton RG and Teasdale RD.
  TITLE     Parkinson Disease-linked Vps35 R524W Mutation Impairs the Endosomal
            Association of Retromer and Induces alpha-Synuclein Aggregation
  JOURNAL   J Biol Chem 291 (35), 18283-18298 (2016)
   PUBMED   27385586
REFERENCE   3  (residues 1 to 1255)
  AUTHORS   Deng ZH, Gomez TS, Osborne DG, Phillips-Krawczak CA, Zhang JS and
            Billadeau DD.
  TITLE     Nuclear FAM21 participates in NF-kappaB-dependent gene regulation
            in pancreatic cancer cells
  JOURNAL   J Cell Sci 128 (2), 373-384 (2015)
   PUBMED   25431135
  REMARK    GeneRIF: FAM21 not only functions as an integral component of the
            cytoplasmic WASH complex, but also modulates NF-kappaB gene
            transcription in the nucleus.
REFERENCE   4  (residues 1 to 1255)
  AUTHORS   Phillips-Krawczak CA, Singla A, Starokadomskyy P, Deng Z, Osborne
            DG, Li H, Dick CJ, Gomez TS, Koenecke M, Zhang JS, Dai H,
            Sifuentes-Dominguez LF, Geng LN, Kaufmann SH, Hein MY, Wallis M,
            McGaughran J, Gecz J, Sluis Bv, Billadeau DD and Burstein E.
  TITLE     COMMD1 is linked to the WASH complex and regulates endosomal
            trafficking of the copper transporter ATP7A
  JOURNAL   Mol Biol Cell 26 (1), 91-103 (2015)
   PUBMED   25355947
REFERENCE   5  (residues 1 to 1255)
  AUTHORS   McGough IJ, Steinberg F, Gallon M, Yatsu A, Ohbayashi N, Heesom KJ,
            Fukuda M and Cullen PJ.
  TITLE     Identification of molecular heterogeneity in
            SNX27-retromer-mediated endosome-to-plasma-membrane recycling
  JOURNAL   J Cell Sci 127 (Pt 22), 4940-4953 (2014)
   PUBMED   25278552
REFERENCE   6  (residues 1 to 1255)
  AUTHORS   Hernandez-Valladares M, Kim T, Kannan B, Tung A, Aguda AH, Larsson
            M, Cooper JA and Robinson RC.
  TITLE     Structural characterization of a capping protein interaction motif
            defines a family of actin filament regulators
  JOURNAL   Nat Struct Mol Biol 17 (4), 497-503 (2010)
   PUBMED   20357771
REFERENCE   7  (residues 1 to 1255)
  AUTHORS   Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura
            Y and Kamatani N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   8  (residues 1 to 1255)
  AUTHORS   Derivery E, Sousa C, Gautier JJ, Lombard B, Loew D and Gautreau A.
  TITLE     The Arp2/3 activator WASH controls the fission of endosomes through
            a large multiprotein complex
  JOURNAL   Dev Cell 17 (5), 712-723 (2009)
   PUBMED   19922875
REFERENCE   9  (residues 1 to 1255)
  AUTHORS   Gomez TS and Billadeau DD.
  TITLE     A FAM21-containing WASH complex regulates retromer-dependent
            sorting
  JOURNAL   Dev Cell 17 (5), 699-711 (2009)
   PUBMED   19922874
  REMARK    GeneRIF: WASH exists in a multiprotein complex containing FAM21,
            which links WASH to endosomes and is required for WASH-dependent
            retromer-mediated sorting.
REFERENCE   10 (residues 1 to 1255)
  AUTHORS   Huang CY, Lu TY, Bair CH, Chang YS, Jwo JK and Chang W.
  TITLE     A novel cellular protein, VPEF, facilitates vaccinia virus
            penetration into HeLa cells through fluid phase endocytosis
  JOURNAL   J Virol 82 (16), 7988-7999 (2008)
   PUBMED   18550675
  REMARK    GeneRIF: a cellular factor, VPEF, is exploited by vaccinia virus
            for cell entry through fluid phase endocytosis when vaccinia virus
            enters HeLa cells
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL645998.10, AL731535.6 and AC012044.15.
            On Nov 27, 2018 this sequence version replaced XP_016871509.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.44155.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1255
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     Protein         1..1255
                     /product="WASH complex subunit 2C isoform 6"
                     /note="WASH complex subunit FAM21C; vaccinia virus
                     penetration factor; family with sequence similarity 21
                     member C"
                     /calculated_mol_wt=137277
     Region          <565..792
                     /region_name="PTZ00108"
                     /note="DNA topoisomerase 2-like protein; Provisional"
                     /db_xref="CDD:240271"
     Region          873..994
                     /region_name="CAP-ZIP_m"
                     /note="WASH complex subunit CAP-Z interacting, central
                     region; pfam15255"
                     /db_xref="CDD:434577"
     CDS             1..1255
                     /gene="WASHC2C"
                     /gene_synonym="FAM21A; FAM21C; VPEF"
                     /coded_by="NM_001367394.1:53..3820"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="GeneID:253725"
                     /db_xref="HGNC:HGNC:23414"
                     /db_xref="MIM:613631"
ORIGIN      
        1 mmnrttpdqe lvpasepvwe rpwsveeirr ssqswslaad agllqflqef sqqtisrthe
       61 ikkqvdglir etkatdcrlh nvfndflmls ntqfienrvy deeveepvlk aeaekteqek
      121 treqkevdli pkvqeavnyg lqvldsafeq ldikagnsds eeddangrve lilepkdlyi
      181 drplpyligs klfmeqedvg lgelsseegs vgsdrgsivd teeekeeees dedfahhsdn
      241 eqnqhttqms deeedddgcd lfadsekeee diedieentr pkrsrptsfa delaarikgd
      301 amgrvdeept neednlfapp kltdedfspf gsggglfsgg kglfddedee sdlfteasqd
      361 rqagasvkee sssskpgkki pagavsvflg dtdvfgaasv pslkepqkpe qptprkspyg
      421 ppptglfddd dgdddddffs aphskpsktr kvqstadifg deegdlfkek avaspeatvs
      481 qtdenkarae kkvtlsyskn lkpssetktq kglfsdeeds edlfssqsas nlkgasllpg
      541 klptsvslfd dedeednlfg gtaakkqtls lqaqreekak aselskkkas allfssdeed
      601 qwnipasqth lasdsrskge prdsgtlqsq eakavkktsl feedkeddlf aiakdsqkkt
      661 qrvsllfedd vdsggslfgs pptsvppatk kketvseapp llfsdeeeke aqlgvksvdk
      721 kvesakeslk fgrtdvaese keglltrsaq etvkhsdlfs ssspwdkgtk prtktvlslf
      781 deeedkmedq niiqapqkev gkgcdpdahp kstgvfqdee llfshklqkd ndpdvdlfag
      841 tkktklleps vgslfgdded ddlfssaksq planlainpa allptaasqi sevkpvlpel
      901 afpssehrrs hglesvpvlp gsgeagvsfd lpaqadtlhs anksrvkmrg krrpqtraar
      961 rlaaqessea edmsvprgpi aqwadgaisp nghrpqlraa sgedsteeal aaaaapwegg
     1021 pvpgvdtspf akslghsrge adlfdsgdif stgtgsqsve rtkpkakiae npanppvggk
     1081 akspmfpalg eassdddlfq sakpkpakkt npfplleded dlftdqkvkk netksssqqd
     1141 vilttqdife ddifateaik psqktrekek tlesnlfddn idifadltvk pkekskkkve
     1201 aksifdddmd difstgiqak ttkpksrsaq aapeprfehk vsnifddpln afggq
//
LOCUS       NP_056140               2266 aa            linear   PRI 25-DEC-2022
DEFINITION  little elongation complex subunit 1 [Homo sapiens].
ACCESSION   NP_056140 XP_029101 XP_945562
VERSION     NP_056140.1
DBSOURCE    REFSEQ: accession NM_015325.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2266)
  AUTHORS   Baird TD, Cheng KC, Chen YC, Buehler E, Martin SE, Inglese J and
            Hogg JR.
  TITLE     ICE1 promotes the link between splicing and nonsense-mediated mRNA
            decay
  JOURNAL   Elife 7, e33178 (2018)
   PUBMED   29528287
  REMARK    GeneRIF: RNAseq studies reveal that depletion of ICE1 globally
            enhances accumulation and stability of NMD-target mRNAs. Further,
            our data suggest that ICE1 uses a putative MIF4G domain to interact
            with exon junction complex (EJC) proteins and promotes the
            association of the NMD protein UPF3B with the EJC.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 2266)
  AUTHORS   Anwar D, Takahashi H, Watanabe M, Suzuki M, Fukuda S and Hatakeyama
            S.
  TITLE     p53 represses the transcription of snRNA genes by preventing the
            formation of little elongation complex
  JOURNAL   Biochim Biophys Acta 1859 (8), 975-982 (2016)
   PUBMED   27268141
  REMARK    GeneRIF: The results indicate that p53 interferes with the
            interaction between ELL/EAF and ICE1 and represses transcription of
            small nuclear RNA genes by Pol II.
REFERENCE   3  (residues 1 to 2266)
  AUTHORS   Zhang B, Willing M, Grange DK, Shinawi M, Manwaring L, Vineyard M,
            Kulkarni S and Cottrell CE.
  TITLE     Multigenerational autosomal dominant inheritance of 5p chromosomal
            deletions
  JOURNAL   Am J Med Genet A 170 (3), 583-593 (2016)
   PUBMED   26601658
  REMARK    GeneRIF: Multigenerational autosomal dominant inheritance of 5p
            chromosomal deletions resulting in Cri-du-Chat Syndrome with
            SEMA5A, CTNND2, and ICE1 deficiencies has been described.
REFERENCE   4  (residues 1 to 2266)
  AUTHORS   Hu D, Smith ER, Garruss AS, Mohaghegh N, Varberg JM, Lin C, Jackson
            J, Gao X, Saraf A, Florens L, Washburn MP, Eissenberg JC and
            Shilatifard A.
  TITLE     The little elongation complex functions at initiation and
            elongation phases of snRNA gene transcription
  JOURNAL   Mol Cell 51 (4), 493-505 (2013)
   PUBMED   23932780
REFERENCE   5  (residues 1 to 2266)
  AUTHORS   Smith ER, Lin C, Garrett AS, Thornton J, Mohaghegh N, Hu D, Jackson
            J, Saraf A, Swanson SK, Seidel C, Florens L, Washburn MP,
            Eissenberg JC and Shilatifard A.
  TITLE     The little elongation complex regulates small nuclear RNA
            transcription
  JOURNAL   Mol Cell 44 (6), 954-965 (2011)
   PUBMED   22195968
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA217623.1, AB023164.3, CR749441.1 and AL832204.1.
            On or before Jun 27, 2007 this sequence version replaced
            XP_029101.9, XP_945562.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.174928.1, AB023164.3
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296564.9/ ENSP00000296564.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2266
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.32"
     Protein         1..2266
                     /product="little elongation complex subunit 1"
                     /note="interactor of little elongator complex ELL subunit
                     1"
                     /calculated_mol_wt=247761
     Region          <28..>186
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          223..259
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            255
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Region          517..540
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            533
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            558
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            589
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Region          591..623
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            707
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:E9Q286; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            832
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Region          925..955
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            925
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            958
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Region          977..1001
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Region          1107..1133
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            1218
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Region          1295..1372
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Region          1467..1510
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Region          1543..1707
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            1588
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            1617
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:E9Q286; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            1642
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            1692
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            1697
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            1699
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            1701
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            1712
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Region          1809..1902
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            1838
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            1854
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     Site            1903
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2F5.5)"
     CDS             1..2266
                     /gene="ICE1"
                     /gene_synonym="KIAA0947"
                     /coded_by="NM_015325.3:240..7040"
                     /db_xref="CCDS:CCDS47187.1"
                     /db_xref="GeneID:23379"
                     /db_xref="HGNC:HGNC:29154"
                     /db_xref="MIM:617958"
ORIGIN      
        1 mmpgethsaa pgtaadlsrc qgcaslqqnl neyvealitl kqkiintdnl lteyqkkcde
       61 lqfarrensn lhhqveemlq kisplqkcqe elgslkaele ekksslklyq dthqeyarvk
      121 eeclksdaqk kkleakvkkl qeaavkqtqd fkqlrnekki lekefkktqe rldefskqkn
      181 ekelrhigtq issdsygsid krkvklllke lwlcvntthr lpgegsrcvp ekpakaitss
      241 rvpgedgtlp ptqgsplrts nvqtcltkls meikedflcq nvekqsssgt ncssdhvfne
      301 ngnlevlvqs hrdggstefv dhdhffdedl qaaidffklp ppllspvpsp ppmssphpgs
      361 lpssfapety fgeytdssdn dsvqlrnsae cvseddttes qnyfgslrkn kgsgtweekp
      421 ksheaiqaln twevnkvtts gletftatlr essathslvg ekhwttasrs msdrkrdilh
      481 etktqmevre mdksvqtekt ihkltrglci erlsaspaqe keaapgksel cssplgkrpl
      541 nelmesegkt vlskmmgspk seftkwtrin eitsepdrit vsghfhrlsr elekekedtq
      601 gftlgespes edddsgdgmd vagldietsf sssstlvals vgsnpqsssg ldcgndtdit
      661 tkvfstephh sehklqtktl ntlhlqsepp ecsiggnnle nslcalspel gasnfndqks
      721 sgieytkvvk gltkihslpr svfmkatkdg qcesqdprie ltlnkpdfts ligsqaalik
      781 sglgfvksts whhsdllrkg geeslrakse heqktshqlq kampflqnrg ptpkpdllre
      841 nnnpvefktt asvlpnqvsv itkqtrpekv qsaklehlrp hrveptlvte nsgnktgmst
      901 vakcdgerdd ttqnitevaa vksispevsa srrkldfnsp ggsspvensd cstnsrlsfs
      961 peniliqnqd ivreaavqgd gqkqrqpqat dldssgthgs emlpatevtv sggfsveets
     1021 cgdtgrsgge alavandsts tpqnanglwk lksttpggal pecfgttdtt fssafcrkhg
     1081 etqdtsqssl pgtlhcytgi reggddteve seafscsegs eqqdapddsq knlgdtdaav
     1141 aevrpslevg yltsalqdfn istfseldrl stsevvmfle scqlgdyssg dsvsecsskg
     1201 tlskemnkel kaseigekyr kqpceeetlg tceewiesee ddyslkntsq ltqcsletls
     1261 evltkirqel qtnsedcngk dtgsllllnv nnnmttenlk ekspfrettg ssshaseptp
     1321 qaaaldtegs spisgmpqne npqsrpears dagrqtdgge edlpepveps alcsdsvmep
     1381 sieqssncea ettfqcqiat vtsevinvli nkdqnlviek gdnwtiisgv avlphvdqvt
     1441 lcdipgdipi sqdqgeleag cipvtsaeks peashtgpaf qeapcgnnls cpqedvsssg
     1501 qstnfdksrl rnrpvkpsiw issqiydqnf etqivasdht yynsklepsg knknrskisn
     1561 kdqsnkpvkt sassrvethq sevaqsfsge kantktqrsq tqtilanadt stptdcspdt
     1621 lskirqevgp plppllapli atpprtsqpl splissssps spaspvgqvs pfretpvppa
     1681 mspwpedprr asppdpspsp saasaservv psplqfcaat pkhalpvpgr lppcasghaa
     1741 vggpqensvk ildtmypels arartlnilk gniqltrgpp adcknlpgpa samigfktit
     1801 saatafvktg sssggdcnqd ksrdlgtqqd ssgkrtlsts tlrsakrlrl dtgspepetr
     1861 gvtaegihkn lpgnlppaev attneerscs spavsavsql plspketves hdkaianalk
     1921 kiaefsfdll pvirshvyvg niskkpvmrd qekevvyefs ttkkhlaecl lhsilselki
     1981 qkismdhnyi halcrvyvgi crqlgdlera rlfcysllke dfpesekltl fianmwhdif
     2041 lsqsvinkam qlvarqrakg evlnclrafl nweknapvdv gfmvsklllt iqlcpktefq
     2101 psekfgedls dntweyifai dllcchqkwi wthdniiske lwpvmdkwik yrkghaniay
     2161 tpdiiiasil rligrlgqlg lkegfpsavk nissvigmfi qhahdedipw giqlaavyal
     2221 cdlspsnpae iskileawrr easksvpsai vscleevsal steelg
//
LOCUS       NP_004485                240 aa            linear   PRI 25-DEC-2022
DEFINITION  hepatoma-derived growth factor isoform a [Homo sapiens].
ACCESSION   NP_004485
VERSION     NP_004485.1
DBSOURCE    REFSEQ: accession NM_004494.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 240)
  AUTHORS   Zhou J, Huang CL, Liu HW, Zeng ZY and Tan J.
  TITLE     [miR-29a-3p Targets Hepatoma-Derived Growth Factor to Inhibit the
            Proliferation and Promote the Apoptosis of E6-1 Cells]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 30 (6), 1650-1654 (2022)
   PUBMED   36476884
  REMARK    GeneRIF: [miR-29a-3p Targets Hepatoma-Derived Growth Factor to
            Inhibit the Proliferation and Promote the Apoptosis of E6-1 Cells].
REFERENCE   2  (residues 1 to 240)
  AUTHORS   Hoelzinger DB, Quinton SJ, Walters DK, Vardam-Kaur T, Tschumper RC,
            Borges da Silva H and Jelinek DF.
  TITLE     Extracellular vesicle proteomic analysis leads to the discovery of
            HDGF as a new factor in multiple myeloma biology
  JOURNAL   Blood Adv 6 (11), 3458-3471 (2022)
   PUBMED   35395072
  REMARK    GeneRIF: Extracellular vesicle proteomic analysis leads to the
            discovery of HDGF as a new factor in multiple myeloma biology.
REFERENCE   3  (residues 1 to 240)
  AUTHORS   Fang Y and Yang Q.
  TITLE     Specificity protein 1-induced serine peptidase inhibitor, Kunitz
            Type 1 antisense RNA1 regulates colorectal cancer cell
            proliferation, migration, invasion and apoptosis through targeting
            heparin binding growth factor via sponging microRNA-214
  JOURNAL   Bioengineered 13 (2), 3309-3322 (2022)
   PUBMED   35068341
  REMARK    GeneRIF: Specificity protein 1-induced serine peptidase inhibitor,
            Kunitz Type 1 antisense RNA1 regulates colorectal cancer cell
            proliferation, migration, invasion and apoptosis through targeting
            heparin binding growth factor via sponging microRNA-214.
REFERENCE   4  (residues 1 to 240)
  AUTHORS   Xia C, Li Q, Cheng X, Wu T and Gao P.
  TITLE     miR-4323 targets hepatoma-derived growth factor (HDGF) to suppress
            colorectal cancer cell proliferation
  JOURNAL   Pathol Res Pract 225, 153544 (2021)
   PUBMED   34314948
  REMARK    GeneRIF: miR-4323 targets hepatoma-derived growth factor (HDGF) to
            suppress colorectal cancer cell proliferation.
REFERENCE   5  (residues 1 to 240)
  AUTHORS   Lee HP, Tsai KW and Lee CC.
  TITLE     Prognostic Influence of Cytoplasmic/Nuclear Hepatoma-derived Growth
            Factor in Head and Neck Cancer
  JOURNAL   Anticancer Res 41 (2), 803-810 (2021)
   PUBMED   33517285
  REMARK    GeneRIF: Prognostic Influence of Cytoplasmic/Nuclear
            Hepatoma-derived Growth Factor in Head and Neck Cancer.
REFERENCE   6  (residues 1 to 240)
  AUTHORS   Mori M, Morishita H, Nakamura H, Matsuoka H, Yoshida K, Kishima Y,
            Zhou Z, Kida H, Funakoshi T, Goya S, Yoshida M, Kumagai T,
            Tachibana I, Yamamoto Y, Kawase I and Hayashi S.
  TITLE     Hepatoma-derived growth factor is involved in lung remodeling by
            stimulating epithelial growth
  JOURNAL   Am J Respir Cell Mol Biol 30 (4), 459-469 (2004)
   PUBMED   12972397
  REMARK    GeneRIF: may be involved in lung remodeling after injury
REFERENCE   7  (residues 1 to 240)
  AUTHORS   Yoshida K, Nakamura H, Okuda Y, Enomoto H, Kishima Y, Uyama H, Ito
            H, Hirasawa T, Inagaki S and Kawase I.
  TITLE     Expression of hepatoma-derived growth factor in
            hepatocarcinogenesis
  JOURNAL   J Gastroenterol Hepatol 18 (11), 1293-1301 (2003)
   PUBMED   14535987
REFERENCE   8  (residues 1 to 240)
  AUTHORS   Kishima Y, Yamamoto H, Izumoto Y, Yoshida K, Enomoto H, Yamamoto M,
            Kuroda T, Ito H, Yoshizaki K and Nakamura H.
  TITLE     Hepatoma-derived growth factor stimulates cell growth after
            translocation to the nucleus by nuclear localization signals
  JOURNAL   J Biol Chem 277 (12), 10315-10322 (2002)
   PUBMED   11751870
  REMARK    GeneRIF: Hepatoma-derived growth factor stimulates cell growth
            after translocation to the nucleus
REFERENCE   9  (residues 1 to 240)
  AUTHORS   Wanschura S, Schoenmakers EF, Huysmans C, Bartnitzke S, Van de Ven
            WJ and Bullerdiek J.
  TITLE     Mapping of the gene encoding the human hepatoma-derived growth
            factor (HDGF) with homology to the high-mobility group (HMG)-1
            protein to Xq25
  JOURNAL   Genomics 32 (2), 298-300 (1996)
   PUBMED   8833162
REFERENCE   10 (residues 1 to 240)
  AUTHORS   Nakamura H, Izumoto Y, Kambe H, Kuroda T, Mori T, Kawamura K,
            Yamamoto H and Kishimoto T.
  TITLE     Molecular cloning of complementary DNA for a novel human
            hepatoma-derived growth factor. Its homology with high mobility
            group-1 protein
  JOURNAL   J Biol Chem 269 (40), 25143-25149 (1994)
   PUBMED   7929202
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590666.8.
            
            Summary: This gene encodes a member of the hepatoma-derived growth
            factor family. The encoded protein has mitogenic and DNA-binding
            activity and may play a role in cellular proliferation and
            differentiation. High levels of expression of this gene enhance the
            growth of many tumors. This gene was thought initially to be
            located on chromosome X; however, that location has been determined
            to correspond to a related pseudogene. Alternatively spliced
            transcript variants encoding distinct isoforms have been described.
            [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) differs in the 5' UTR and
            coding sequence and uses an alternate in-frame splice junction
            compared to variant 4. The resulting isoform (a) has a shorter and
            distinct N-terminus and lacks an alternate internal segment
            compared to isoform d.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR279872.2695.1, D16431.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357325.10/ ENSP00000349878.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     Protein         1..240
                     /product="hepatoma-derived growth factor isoform a"
                     /note="high mobility group protein 1-like 2; hepatoma
                     derived growth factor; epididymis secretory sperm binding
                     protein"
                     /calculated_mol_wt=26657
     Region          10..96
                     /region_name="PWWP"
                     /note="PWWP (Pro-Trp-Trp-Pro) domain; cl02554"
                     /db_xref="CDD:445826"
     Site            order(23,26,49)
                     /site_type="other"
                     /note="putative methyl-histone binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438958"
     Site            24..27
                     /site_type="other"
                     /note="PWWP sequence motif"
                     /db_xref="CDD:438958"
     Site            44
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P51858.1)"
     Region          69..240
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P51858.1)"
     Region          75..80
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000269|PubMed:11751870"
                     /note="propagated from UniProtKB/Swiss-Prot (P51858.1)"
     Site            132
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16807684,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:17487921,
                     ECO:0007744|PubMed:18088087, ECO:0007744|PubMed:18318008,
                     ECO:0007744|PubMed:19367720, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P51858.1)"
     Site            133
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16807684,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:17487921,
                     ECO:0007744|PubMed:18088087, ECO:0007744|PubMed:18318008,
                     ECO:0007744|PubMed:19367720, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P51858.1)"
     Region          155..170
                     /region_name="Bipartite nuclear localization signal"
                     /note="propagated from UniProtKB/Swiss-Prot (P51858.1)"
     Site            165
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15302935,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18318008, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19367720, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P51858.1)"
     Site            184
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P51858.1)"
     Site            199
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VHK7; propagated from
                     UniProtKB/Swiss-Prot (P51858.1)"
     Site            200
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P51858.1)"
     Site            202
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P51858.1)"
     Site            206
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P51858.1)"
     Site            239
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P51858.1)"
     CDS             1..240
                     /gene="HDGF"
                     /gene_synonym="HMG1L2"
                     /coded_by="NM_004494.3:247..969"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1156.1"
                     /db_xref="GeneID:3068"
                     /db_xref="HGNC:HGNC:4856"
                     /db_xref="MIM:600339"
ORIGIN      
        1 msrsnrqkey kcgdlvfakm kgyphwpari dempeaavks tankyqvfff gthetaflgp
       61 kdlfpyeesk ekfgkpnkrk gfseglweie nnptvkasgy qssqkkscve epepepeaae
      121 gdgdkkgnae gssdeegklv idepakekne kgalkrragd lledspkrpk eaenpegeek
      181 eaatleverp lpmeveknst psepgsgrgp pqeeeeeede eeeatkedae apgirdhesl
//
LOCUS       NP_001185780             622 aa            linear   PRI 26-DEC-2022
DEFINITION  forkhead box protein J3 isoform 1 [Homo sapiens].
ACCESSION   NP_001185780
VERSION     NP_001185780.1
DBSOURCE    REFSEQ: accession NM_001198851.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 622)
  AUTHORS   Yong W, Deng S, Tan Y and Li S.
  TITLE     Circular RNA circSLC8A1 inhibits the proliferation and invasion of
            non-small cell lung cancer cells through targeting the miR-106b-5p
            /FOXJ3 axis
  JOURNAL   Cell Cycle 20 (24), 2597-2606 (2021)
   PUBMED   34724864
  REMARK    GeneRIF: Circular RNA circSLC8A1 inhibits the proliferation and
            invasion of non-small cell lung cancer cells through targeting the
            miR-106b-5p /FOXJ3 axis.
REFERENCE   2  (residues 1 to 622)
  AUTHORS   Huang G, Ma J and Zhang L.
  TITLE     Integrin Subunit Alpha 5 (ITGA5) Gene Circular RNA Sponges
            microRNA-107 in Colorectal Carcinoma Cells and Tissues and
            Regulates the Expression of the Forkhead Box J3 (FOXJ3) Gene
  JOURNAL   Med Sci Monit 26, e920623 (2020)
   PUBMED   32305992
  REMARK    GeneRIF: Integrin Subunit Alpha 5 (ITGA5) Gene Circular RNA Sponges
            microRNA-107 in Colorectal Carcinoma Cells and Tissues and
            Regulates the Expression of the Forkhead Box J3 (FOXJ3) Gene.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 622)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 622)
  AUTHORS   Zhang JY, Su XP, Li YN and Guo YH.
  TITLE     MicroRNA-425-5p promotes the development of prostate cancer via
            targeting forkhead box J3
  JOURNAL   Eur Rev Med Pharmacol Sci 23 (2), 547-554 (2019)
   PUBMED   30720162
  REMARK    GeneRIF: The found the stimulation effects of miR-425-5p on
            prostate cancer (PCa) cell behaviors were fulfilled through
            directly regulating the expression of FOXJ3, which validated FOXJ3
            as a functional target of miR-425-5p in PCa.
REFERENCE   5  (residues 1 to 622)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (residues 1 to 622)
  AUTHORS   Jolma A, Yan J, Whitington T, Toivonen J, Nitta KR, Rastas P,
            Morgunova E, Enge M, Taipale M, Wei G, Palin K, Vaquerizas JM,
            Vincentelli R, Luscombe NM, Hughes TR, Lemaire P, Ukkonen E,
            Kivioja T and Taipale J.
  TITLE     DNA-binding specificities of human transcription factors
  JOURNAL   Cell 152 (1-2), 327-339 (2013)
   PUBMED   23332764
REFERENCE   7  (residues 1 to 622)
  AUTHORS   Grant GD, Gamsby J, Martyanov V, Brooks L 3rd, George LK, Mahoney
            JM, Loros JJ, Dunlap JC and Whitfield ML.
  TITLE     Live-cell monitoring of periodic gene expression in synchronous
            human cells identifies Forkhead genes involved in cell cycle
            control
  JOURNAL   Mol Biol Cell 23 (16), 3079-3093 (2012)
   PUBMED   22740631
  REMARK    GeneRIF: FOXJ3 is identified as a novel cell cycle reguulator that
            may regulate a network of zinc finger proteins.
REFERENCE   8  (residues 1 to 622)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   9  (residues 1 to 622)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   10 (residues 1 to 622)
  AUTHORS   Nakayama M, Kikuno R and Ohara O.
  TITLE     Protein-protein interactions between large proteins: two-hybrid
            screening using a functionally classified library composed of long
            cDNAs
  JOURNAL   Genome Res 12 (11), 1773-1784 (2002)
   PUBMED   12421765
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC152441.1, AK027075.1, BC151828.1 and BC063298.1.
            
            Transcript Variant: This variant (3) has two additional exons in
            the 5' UTR, as compared to variant 1. Variants 1, 2 and 3 encode
            the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC152441.1, AB028964.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..622
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..622
                     /product="forkhead box protein J3 isoform 1"
                     /note="forkhead box protein J3"
                     /calculated_mol_wt=68829
     Region          <54..335
                     /region_name="COG5025"
                     /note="Transcription factor of the Forkhead/HNF3 family
                     [Transcription]"
                     /db_xref="CDD:227358"
     Region          77..155
                     /region_name="FH_FOXJ3"
                     /note="Forkhead (FH) domain found in Forkhead box protein
                     J3 (FOXJ3) and similar proteins; cd20052"
                     /db_xref="CDD:410826"
     Site            order(83,101..102,105,124..125,127..128,131,138,148..150,
                     152)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410826"
     Region          145..178
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPW0.2)"
     Site            223
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9UPW0.2)"
     Region          249..274
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPW0.2)"
     Site            295
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9UPW0.2)"
     Region          316..450
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPW0.2)"
     Region          <372..442
                     /region_name="KLF1_2_4_N"
                     /note="N-terminal domain of Kruppel-like factor (KLF) 1,
                     KLF2, KLF4, and similar proteins; cl41729"
                     /db_xref="CDD:425360"
     Site            489
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9UPW0.2)"
     Site            606
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9UPW0.2)"
     CDS             1..622
                     /gene="FOXJ3"
                     /coded_by="NM_001198851.2:303..2171"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS30689.1"
                     /db_xref="GeneID:22887"
                     /db_xref="HGNC:HGNC:29178"
                     /db_xref="MIM:616035"
ORIGIN      
        1 mglygqacps vtslrmtsel essltsmdwl pqltmraaiq ksdatqnahg tgiskknall
       61 dpnttldqee vqqhkdgkpp ysyaslitfa insspkkkmt lseiyqwicd nfpyyreags
      121 gwknsirhnl slnkcflkvp rskddpgkgs ywaidtnpke dvlptrpkkr arsverastp
      181 ysidsdslgm eciisgsasp tlaintvtnk vtlyntdqdg sdsprsslnn slsdqslasv
      241 nlnsvgsvhs ytpvtshpes vsqsltpqqq pqynlperdk qllfseynfe dlsasfrsly
      301 ksvfeqslsq qglmnipses sqqshtscty qhspsstvst hphsnqssls nshgsglntt
      361 gsnsvaqvsl shpqmhtqps phpphrphgl pqhpqrsphp aphpqqhsql qsphpqhpsp
      421 hqhiqhhpnh qhqtlthqap pppqqvscns gvsndwyatl dmlkescria ssvnwsdvdl
      481 sqfqglmesm rqadlknwsl dqvqfadlcs slnqfftqtg lihsqsnvqq nvchgamhpt
      541 kpsqhigtgn lyidsrqnlp psvmpppgyp hipqalstpg ttmaghhram nqqhmmpsqa
      601 fqmrrslppd diqddfdwds iv
//
LOCUS       NP_001337792             877 aa            linear   PRI 26-DEC-2022
DEFINITION  sorting nexin-13 isoform c [Homo sapiens].
ACCESSION   NP_001337792
VERSION     NP_001337792.1
DBSOURCE    REFSEQ: accession NM_001350863.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 877)
  AUTHORS   Lu A, Hsieh F, Sharma BR, Vaughn SR, Enrich C and Pfeffer SR.
  TITLE     CRISPR screens for lipid regulators reveal a role for ER-bound
            SNX13 in lysosomal cholesterol export
  JOURNAL   J Cell Biol 221 (2) (2022)
   PUBMED   34936700
  REMARK    GeneRIF: CRISPR screens for lipid regulators reveal a role for
            ER-bound SNX13 in lysosomal cholesterol export.
REFERENCE   2  (residues 1 to 877)
  AUTHORS   Mas C, Norwood SJ, Bugarcic A, Kinna G, Leneva N, Kovtun O, Ghai R,
            Ona Yanez LE, Davis JL, Teasdale RD and Collins BM.
  TITLE     Structural basis for different phosphoinositide specificities of
            the PX domains of sorting nexins regulating G-protein signaling
  JOURNAL   J Biol Chem 289 (41), 28554-28568 (2014)
   PUBMED   25148684
REFERENCE   3  (residues 1 to 877)
  AUTHORS   Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni
            S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS,
            Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R,
            Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K,
            Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K,
            Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen
            M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson
            PKE, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte
            IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena
            R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ,
            Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik
            EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher
            D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL,
            Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney ASF, Doring
            A, Elliott P, Epstein SE, Ingi Eyjolfsson G, Gigante B, Goodarzi
            MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL,
            Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones
            MR, Kaleebu P, Kastelein JJP, Khaw KT, Kim E, Klopp N, Komulainen
            P, Kumari M, Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos
            RJF, Mach F, McArdle WL, Meisinger C, Mitchell BD, Muller G,
            Nagaraja R, Narisu N, Nieminen TVM, Nsubuga RN, Olafsson I, Ong KK,
            Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP,
            Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl
            H, Seeley J, Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret
            L, Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga
            C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH,
            Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud
            M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier
            M, Campbell H, Chakravarti A, Chambers JC, Chen YI, Collins FS,
            Cooper RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrieres
            J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V,
            Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN,
            Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K,
            Iribarren C, Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A,
            Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J,
            Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz
            W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L,
            Morris AD, Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller
            PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D,
            Salomaa V, Sanghera DK, Saramies J, Schwarz PEH, Sheu WH, Shuldiner
            AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO,
            Tremoli E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P,
            Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BHR, Ordovas
            JM, Boerwinkle E, Palmer CNA, Thorsteinsdottir U, Chasman DI,
            Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS,
            Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E and
            Abecasis GR.
  CONSRTM   Global Lipids Genetics Consortium
  TITLE     Discovery and refinement of loci associated with lipid levels
  JOURNAL   Nat Genet 45 (11), 1274-1283 (2013)
   PUBMED   24097068
REFERENCE   4  (residues 1 to 877)
  AUTHORS   Hillman RT, Green RE and Brenner SE.
  TITLE     An unappreciated role for RNA surveillance
  JOURNAL   Genome Biol 5 (2), R8 (2004)
   PUBMED   14759258
REFERENCE   5  (residues 1 to 877)
  AUTHORS   Worby CA and Dixon JE.
  TITLE     Sorting out the cellular functions of sorting nexins
  JOURNAL   Nat Rev Mol Cell Biol 3 (12), 919-931 (2002)
   PUBMED   12461558
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol. 2003 Feb;4(2):156.]
REFERENCE   6  (residues 1 to 877)
  AUTHORS   Kosan C and Kunz J.
  TITLE     Identification and characterisation of the gene TWIST NEIGHBOR
            (TWISTNB) located in the microdeletion syndrome 7p21 region
  JOURNAL   Cytogenet Genome Res 97 (3-4), 167-170 (2002)
   PUBMED   12438708
REFERENCE   7  (residues 1 to 877)
  AUTHORS   Zheng B, Ma YC, Ostrom RS, Lavoie C, Gill GN, Insel PA, Huang XY
            and Farquhar MG.
  TITLE     RGS-PX1, a GAP for GalphaS and sorting nexin in vesicular
            trafficking
  JOURNAL   Science 294 (5548), 1939-1942 (2001)
   PUBMED   11729322
REFERENCE   8  (residues 1 to 877)
  AUTHORS   Teasdale RD, Loci D, Houghton F, Karlsson L and Gleeson PA.
  TITLE     A large family of endosome-localized proteins related to sorting
            nexin 1
  JOURNAL   Biochem J 358 (Pt 1), 7-16 (2001)
   PUBMED   11485546
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC080080.5 and AC073205.6.
            
            Summary: This gene encodes a PHOX domain- and RGS domain-containing
            protein that belongs to the sorting nexin (SNX) family and the
            regulator of G protein signaling (RGS) family. The PHOX domain is a
            phosphoinositide binding domain, and the SNX family members are
            involved in intracellular trafficking. The RGS family members are
            regulatory molecules that act as GTPase activating proteins for G
            alpha subunits of heterotrimeric G proteins. The RGS domain of this
            protein interacts with G alpha(s), accelerates its GTP hydrolysis,
            and attenuates G alpha(s)-mediated signaling. Overexpression of
            this protein delayes lysosomal degradation of the epidermal growth
            factor receptor. Because of its bifunctional role, this protein may
            link heterotrimeric G protein signaling and vesicular trafficking.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.78211.1,
                                           SRR1660809.215065.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..877
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.1"
     Protein         1..877
                     /product="sorting nexin-13 isoform c"
                     /note="rgs domain- and phox domain-containing protein"
                     /calculated_mol_wt=101980
     Region          17..204
                     /region_name="PXA"
                     /note="Domain associated with PX domains; smart00313"
                     /db_xref="CDD:214611"
     Region          297..431
                     /region_name="RGS_SNX13"
                     /note="Regulator of G protein signaling (RGS) domain found
                     in the Sorting Nexin 13 (SNX13) protein; cd08719"
                     /db_xref="CDD:188674"
     Region          477..596
                     /region_name="PX_SNX13"
                     /note="The phosphoinositide binding Phox Homology domain
                     of Sorting Nexin 13; cd06873"
                     /db_xref="CDD:132783"
     Site            order(521..523,548..549,562)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:132783"
     Region          712..820
                     /region_name="Nexin_C"
                     /note="Sorting nexin C terminal; pfam08628"
                     /db_xref="CDD:430115"
     CDS             1..877
                     /gene="SNX13"
                     /gene_synonym="RGS-PX1"
                     /coded_by="NM_001350863.2:433..3066"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="GeneID:23161"
                     /db_xref="HGNC:HGNC:21335"
                     /db_xref="MIM:606589"
ORIGIN      
        1 mkreartiki drrltganii deplqqviqf slrdyvqywy ytlsddesfl leirqtlqna
       61 liqfatrske idwqpyfttr ivddfgthlr vfrkaqqkit ekddqvkgta edlvdtffev
      121 evemekevcr dlvctspkde egflrdlcev llylllppgd fqnkimryfv reilargill
      181 plinqlsdpd yinqyviwmi rdsncnyeaf mniiklsdni geleavrdka aeelqylrsl
      241 dtagddinti knqinsllfv kkvcdsriqr lqsgkeintv klaanfgklc tvpldsilvd
      301 nvalqffmdy mqqtggqahl ffwmtvegyr vtaqqqlevl lsrqrdgkhq tnqtkgllra
      361 aavgiyeqyl sekasprvtv ddylvaklad tlnhedptpe ifddiqrkvy elmlrderfy
      421 psfrqnalyv rmlaeldmlk dpsfrgsddg dgesfngspt gsinlslddl snvssddsvq
      481 lhayisdtgv cndhgktyal yaitvhrrnl nseemwktyr rysdfhdfhm riteqfesls
      541 silklpgkkt fnnmdrdfle krkkdlnayl qlllapemmk aspalahyvy dflenkaysk
      601 gkgdfarkmd tfvnplrnsm rnvsnavksl pdslaegmtk msdnmgkmse rlgqdikqsf
      661 fkvpplipkt dsdpehrrvs aqlddnvddn iplrvmlllm devfdlkern qwlrrniknl
      721 lqqliratyg dtinrkivdh vdwmtspeqv adsvkrfrda fwpngilaea vpcrdksirm
      781 rtrvagktkl laimpdelkh iigaettrkg ilrvfemfqh nqlnrrmvyv flegfletlf
      841 pqykfrelfn klhsrskqmq kykqklqttq apslqkr
//
LOCUS       NP_002546                424 aa            linear   PRI 26-DEC-2022
DEFINITION  solute carrier family 22 member 18 isoform b [Homo sapiens].
ACCESSION   NP_002546
VERSION     NP_002546.3
DBSOURCE    REFSEQ: accession NM_002555.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 424)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 424)
  AUTHORS   Ito S, Honda G, Fujino Y, Ogata S, Hirayama-Kurogi M and Ohtsuki S.
  TITLE     Knockdown of Orphan Transporter SLC22A18 Impairs Lipid Metabolism
            and Increases Invasiveness of HepG2 Cells
  JOURNAL   Pharm Res 36 (3), 39 (2019)
   PUBMED   30635741
  REMARK    GeneRIF: suppression of SLC22A18 decreased the supply of
            intracellular free fatty acids from triglyceride-rich lipid
            droplets by impairing the lysosomal/autophagy degradation pathway
            and reduced the invasive activity of HepG2 cells by decreasing
            IGFBP-1 expression
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 424)
  AUTHORS   Ito S, Fujino Y, Ogata S, Hirayama-Kurogi M and Ohtsuki S.
  TITLE     Involvement of an Orphan Transporter, SLC22A18, in Cell Growth and
            Drug Resistance of Human Breast Cancer MCF7 Cells
  JOURNAL   J Pharm Sci 107 (12), 3163-3170 (2018)
   PUBMED   30145211
  REMARK    GeneRIF: These results suggest that SLC22A18 may act as a tumor
            suppressor by regulating the expression levels of cell
            growth-related proteins, and vinca alkaloids might show therapeutic
            efficacy against low-SLC22A18-expressing breast cancer.
REFERENCE   4  (residues 1 to 424)
  AUTHORS   Ali AM, Bajaj V, Gopinath KS and Kumar A.
  TITLE     Characterization of the human SLC22A18 gene promoter and its
            regulation by the transcription factor Sp1
  JOURNAL   Gene 429 (1-2), 37-43 (2009)
   PUBMED   18996451
  REMARK    GeneRIF: Mutational analysis of the two Sp1 sites suggested their
            requirement for the promoter activityof SLC22A18.
            GeneRIF: recent demonstration that the promoter of this gene is
            positively regulated by Sp1
REFERENCE   5  (residues 1 to 424)
  AUTHORS   Onyango P, Miller W, Lehoczky J, Leung CT, Birren B, Wheelan S,
            Dewar K and Feinberg AP.
  TITLE     Sequence and comparative analysis of the mouse 1-megabase region
            orthologous to the human 11p15 imprinted domain
  JOURNAL   Genome Res 10 (11), 1697-1710 (2000)
   PUBMED   11076855
  REMARK    Erratum:[Genome Res 2001 Feb;11(2):308]
REFERENCE   6  (residues 1 to 424)
  AUTHORS   Lee MP, Reeves C, Schmitt A, Su K, Connors TD, Hu RJ, Brandenburg
            S, Lee MJ, Miller G and Feinberg AP.
  TITLE     Somatic mutation of TSSC5, a novel imprinted gene from human
            chromosome 11p15.5
  JOURNAL   Cancer Res 58 (18), 4155-4159 (1998)
   PUBMED   9751628
  REMARK    GeneRIF: SLC22A18 gene is imprinted, with preferential expression
            from the maternal allele.
REFERENCE   7  (residues 1 to 424)
  AUTHORS   Morisaki H, Hatada I, Morisaki T and Mukai T.
  TITLE     A novel gene, ITM, located between p57KIP2 and IPL, is imprinted in
            mice
  JOURNAL   DNA Res 5 (4), 235-240 (1998)
   PUBMED   9802569
REFERENCE   8  (residues 1 to 424)
  AUTHORS   Cooper PR, Smilinich NJ, Day CD, Nowak NJ, Reid LH, Pearsall RS,
            Reece M, Prawitt D, Landers J, Housman DE, Winterpacht A, Zabel BU,
            Pelletier J, Weissman BE, Shows TB and Higgins MJ.
  TITLE     Divergently transcribed overlapping genes expressed in liver and
            kidney and located in the 11p15.5 imprinted domain
  JOURNAL   Genomics 49 (1), 38-51 (1998)
   PUBMED   9570947
REFERENCE   9  (residues 1 to 424)
  AUTHORS   Dao D, Frank D, Qian N, O'Keefe D, Vosatka RJ, Walsh CP and Tycko
            B.
  TITLE     IMPT1, an imprinted gene similar to polyspecific transporter and
            multi-drug resistance genes
  JOURNAL   Hum Mol Genet 7 (4), 597-608 (1998)
   PUBMED   9499412
REFERENCE   10 (residues 1 to 424)
  AUTHORS   Schwienbacher C, Sabbioni S, Campi M, Veronese A, Bernardi G,
            Menegatti A, Hatada I, Mukai T, Ohashi H, Barbanti-Brodano G, Croce
            CM and Negrini M.
  TITLE     Transcriptional map of 170-kb region at chromosome 11p15.5:
            identification and mutational analysis of the BWR1A gene reveals
            the presence of mutations in tumor samples
  JOURNAL   Proc Natl Acad Sci U S A 95 (7), 3873-3878 (1998)
   PUBMED   9520460
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013791.9, DA582280.1,
            AF059663.1 and AW452749.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 24, 2008 this sequence version replaced NP_002546.2.
            
            Summary: This gene is one of several tumor-suppressing
            subtransferable fragments located in the imprinted gene domain of
            11p15.5, an important tumor-suppressor gene region. Alterations in
            this region have been associated with the Beckwith-Wiedemann
            syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma,
            and lung, ovarian, and breast cancer. This gene is imprinted, with
            preferential expression from the maternal allele. Mutations in this
            gene have been found in Wilms' tumor and lung cancer. This protein
            may act as a transporter of organic cations, and have a role in the
            transport of chloroquine and quinidine-related compounds in kidney.
            Several alternatively spliced transcript variants encoding
            different isoforms have been described. [provided by RefSeq, Oct
            2015].
            
            Transcript Variant: This variant (1) differs in the 5' UTR and
            coding sequence compared to variant 3. The resulting isoform (b) is
            shorter at the N-terminus compared to isoform a. Variants 1 and 2
            both encode the same isoform (b).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.644378.1,
                                           DRR138522.1072196.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 9751628
            MANE Ensembl match     :: ENST00000649076.2/ ENSP00000497561.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..424
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..424
                     /product="solute carrier family 22 member 18 isoform b"
                     /note="p45 Beckwith-Wiedemann region 1A; efflux
                     transporter-like protein; tumor-suppressing STF cDNA 5
                     protein; organic cation transporter-like protein 2;
                     beckwith-Wiedemann syndrome chromosomal region 1 candidate
                     gene A protein; tumor-suppressing subchromosomal
                     transferable fragment candidate gene 5 protein; imprinted
                     multi-membrane-spanning polyspecific transporter-related
                     protein 1; imprinted multi-membrane-spanning polyspecific
                     transporter-like gene 1"
                     /calculated_mol_wt=44715
     Region          25..413
                     /region_name="MFS_SLC22A18"
                     /note="Solute carrier family 22 member 18 of the Major
                     Facilitator Superfamily of transporters; cd17331"
                     /db_xref="CDD:340889"
     Site            26..46
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI1.3)"
     Site            order(36..37,40..41,44,76,130..131,133..135,138,157,
                     160..161,164,247,250..251,254..256,259,287,291,341..342,
                     346,350,366,369..370,373..374,377)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:340889"
     Site            59..79
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI1.3)"
     Site            90..110
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI1.3)"
     Site            156..176
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI1.3)"
     Site            184..204
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI1.3)"
     Site            243..263
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI1.3)"
     Site            276..296
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI1.3)"
     Site            312..332
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI1.3)"
     Site            334..354
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI1.3)"
     Site            391..411
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI1.3)"
     CDS             1..424
                     /gene="SLC22A18"
                     /gene_synonym="BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2;
                     p45-BWR1A; SLC22A1L; TSSC5"
                     /coded_by="NM_002555.6:220..1494"
                     /note="isoform b is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7740.1"
                     /db_xref="GeneID:5002"
                     /db_xref="HGNC:HGNC:10964"
                     /db_xref="MIM:602631"
ORIGIN      
        1 mqgaraprdq grspgrmsal grssvillty vlaateltcl fmqfsivpyl srklgldsia
       61 fgylqttfgv lqllggpvfg rfadqrgara altlsflaal alylllaaas spalpgvyll
      121 fasrlpgalm htlpaaqmvi tdlsapeerp aalgrlglcf gvgvilgsll ggtlvsaygi
      181 qcpailaala tllgavlsft cipastkgak tdaqaplpgg prasvfdlka iasllrlpdv
      241 priflvkvas ncptglfmvm fsiismdffq leaaqagylm sffgllqmvt qglvigqlss
      301 hfseevllra svlvfivvgl amawmssvfh fcllvpglvf slctlnvvtd smlikavsts
      361 dtgtmlglca svqpllrtlg ptvggllyrs fgvpvfghvq vaintlvllv lwrkpmpqrk
      421 dkvr
//
LOCUS       NP_003790                476 aa            linear   PRI 27-DEC-2022
DEFINITION  mRNA cap guanine-N7 methyltransferase isoform 2 [Homo sapiens].
ACCESSION   NP_003790
VERSION     NP_003790.1
DBSOURCE    REFSEQ: accession NM_003799.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 476)
  AUTHORS   Osborne MJ, Volpon L, Memarpoor-Yazdi M, Pillay S, Thambipillai A,
            Czarnota S, Culjkovic-Kraljacic B, Trahan C, Oeffinger M, Cowling
            VH and Borden KLB.
  TITLE     Identification and Characterization of the Interaction Between the
            Methyl-7-Guanosine Cap Maturation Enzyme RNMT and the Cap-Binding
            Protein eIF4E
  JOURNAL   J Mol Biol 434 (5), 167451 (2022)
   PUBMED   35026230
  REMARK    GeneRIF: Identification and Characterization of the Interaction
            Between the Methyl-7-Guanosine Cap Maturation Enzyme RNMT and the
            Cap-Binding Protein eIF4E.
REFERENCE   2  (residues 1 to 476)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 476)
  AUTHORS   Bueren-Calabuig JA, G Bage M, Cowling VH and Pisliakov AV.
  TITLE     Mechanism of allosteric activation of human mRNA cap
            methyltransferase (RNMT) by RAM: insights from accelerated
            molecular dynamics simulations
  JOURNAL   Nucleic Acids Res 47 (16), 8675-8692 (2019)
   PUBMED   31329932
  REMARK    GeneRIF: Mechanism of allosteric activation of human RNMT by RAM
            has been reported.
REFERENCE   4  (residues 1 to 476)
  AUTHORS   Dunn S, Lombardi O, Lukoszek R and Cowling VH.
  TITLE     Oncogenic PIK3CA mutations increase dependency on the mRNA cap
            methyltransferase, RNMT, in breast cancer cells
  JOURNAL   Open Biol 9 (4), 190052 (2019)
   PUBMED   30991934
  REMARK    GeneRIF: Data show that most of the cell lines which exhibited
            enhanced dependency on RNA guanine-7 methyltransferase (RNMT)
            harboured oncogenic mutations in phosphatidylinositol 3-kinase
            catalytic 110-KD alpha (PI3Kalpha).
REFERENCE   5  (residues 1 to 476)
  AUTHORS   Fasci D, van Ingen H, Scheltema RA and Heck AJR.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   6  (residues 1 to 476)
  AUTHORS   Pillutla RC, Shimamoto A, Furuichi Y and Shatkin AJ.
  TITLE     Human mRNA capping enzyme (RNGTT) and cap methyltransferase (RNMT)
            map to 6q16 and 18p11.22-p11.23, respectively
  JOURNAL   Genomics 54 (2), 351-353 (1998)
   PUBMED   9828141
REFERENCE   7  (residues 1 to 476)
  AUTHORS   Tsukamoto T, Shibagaki Y, Niikura Y and Mizumoto K.
  TITLE     Cloning and characterization of three human cDNAs encoding mRNA
            (guanine-7-)-methyltransferase, an mRNA cap methylase
  JOURNAL   Biochem Biophys Res Commun 251 (1), 27-34 (1998)
   PUBMED   9790902
REFERENCE   8  (residues 1 to 476)
  AUTHORS   Pillutla RC, Yue Z, Maldonado E and Shatkin AJ.
  TITLE     Recombinant human mRNA cap methyltransferase binds capping
            enzyme/RNA polymerase IIo complexes
  JOURNAL   J Biol Chem 273 (34), 21443-21446 (1998)
   PUBMED   9705270
REFERENCE   9  (residues 1 to 476)
  AUTHORS   Yamada-Okabe T, Doi R, Shimmi O, Arisawa M and Yamada-Okabe H.
  TITLE     Isolation and characterization of a human cDNA for mRNA 5'-capping
            enzyme
  JOURNAL   Nucleic Acids Res 26 (7), 1700-1706 (1998)
   PUBMED   9512541
REFERENCE   10 (residues 1 to 476)
  AUTHORS   Langberg,S.R. and Moss,B.
  TITLE     Post-transcriptional modifications of mRNA. Purification and
            characterization of cap I and cap II RNA
            (nucleoside-2'-)-methyltransferases from HeLa cells
  JOURNAL   J Biol Chem 256 (19), 10054-10060 (1981)
   PUBMED   7275966
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA634865.1, AF067791.1, AP001525.6 and AB022605.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF067791.1, AB007858.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000383314.7/ ENSP00000372804.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..476
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.21"
     Protein         1..476
                     /product="mRNA cap guanine-N7 methyltransferase isoform 2"
                     /EC_number="2.1.1.56"
                     /note="mRNA cap guanine-N7 methyltransferase; mRNA
                     (guanine-7-)methyltransferase; mRNA cap methyltransferase;
                     mRNA (guanine-N(7)-)-methyltransferase; RNA (guanine-7-)
                     methyltransferase; hcm1p"
                     /calculated_mol_wt=54713
     Region          1..146
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43148.1)"
     Site            24
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D0L8; propagated from
                     UniProtKB/Swiss-Prot (O43148.1)"
     Site            28
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D0L8; propagated from
                     UniProtKB/Swiss-Prot (O43148.1)"
     Site            29
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5U2U7; propagated from
                     UniProtKB/Swiss-Prot (O43148.1)"
     Site            118
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5U2U7; propagated from
                     UniProtKB/Swiss-Prot (O43148.1)"
     Region          126..128
                     /region_name="Nuclear localization signal"
                     /note="propagated from UniProtKB/Swiss-Prot (O43148.1)"
     Region          136..475
                     /region_name="Pox_MCEL"
                     /note="mRNA capping enzyme; pfam03291"
                     /db_xref="CDD:281307"
     Site            order(204..210,227..228,260..262,284)
                     /site_type="other"
                     /note="S-adenosylmethionine binding site [chemical
                     binding]"
                     /db_xref="CDD:100107"
     Site            208
                     /site_type="other"
                     /note="mRNA cap binding.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00895; propagated
                     from UniProtKB/Swiss-Prot (O43148.1)"
     Site            214
                     /site_type="other"
                     /note="mRNA cap binding.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00895; propagated
                     from UniProtKB/Swiss-Prot (O43148.1)"
     Site            239
                     /site_type="other"
                     /note="mRNA cap binding.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00895; propagated
                     from UniProtKB/Swiss-Prot (O43148.1)"
     Site            288
                     /site_type="other"
                     /note="mRNA cap binding.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00895; propagated
                     from UniProtKB/Swiss-Prot (O43148.1)"
     Site            370
                     /site_type="other"
                     /note="mRNA cap binding.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00895; propagated
                     from UniProtKB/Swiss-Prot (O43148.1)"
     Site            467
                     /site_type="other"
                     /note="mRNA cap binding.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00895; propagated
                     from UniProtKB/Swiss-Prot (O43148.1)"
     CDS             1..476
                     /gene="RNMT"
                     /gene_synonym="cm1p; CMT1; CMT1c; hCMT1; hMet; Met; MET;
                     N7-MTase; RG7MT1"
                     /coded_by="NM_003799.3:229..1659"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS11867.1"
                     /db_xref="GeneID:8731"
                     /db_xref="HGNC:HGNC:10075"
                     /db_xref="MIM:603514"
ORIGIN      
        1 mansakaeey ekmsleqaka svnsetessf ninenttasg tglsektsvc rqvdiarkrk
       61 efeddlvkes sscgkdtpsk krkldpeivp eekdcgdaeg nskkrkrete dvpkdksstg
      121 dgtqnkrkia ledvpekqkn leeghsstva ahynelqevg lekrsqsrif ylrnfnnwmk
      181 svligeflek vrqkkkrdit vldlgcgkgg dllkwkkgri nklvctdiad vsvkqcqqry
      241 edmknrrdse yifsaefita dsskellidk frdpqmcfdi cscqfvchys fesyeqadmm
      301 lrnacerlsp ggyfigttpn sfelirrlea setesfgnei ytvkfqkkgd yplfgckydf
      361 nlegvvdvpe flvyfpllne makkynmklv ykktflefye ekiknnenkm llkrmqalep
      421 ypanessklv sekvddyeha akymknsqvr lplgtlskse weatsiylvf afekqq
//
LOCUS       NP_001269951             427 aa            linear   PRI 27-DEC-2022
DEFINITION  GMP reductase 2 isoform 4 [Homo sapiens].
ACCESSION   NP_001269951
VERSION     NP_001269951.1
DBSOURCE    REFSEQ: accession NM_001283022.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 427)
  AUTHORS   Baker BG, Ball GR, Rakha EA, Nolan CC, Caldas C, Ellis IO and Green
            AR.
  TITLE     Lack of expression of the proteins GMPR2 and PPARalpha are
            associated with the basal phenotype and patient outcome in breast
            cancer
  JOURNAL   Breast Cancer Res Treat 137 (1), 127-137 (2013)
   PUBMED   23208589
  REMARK    GeneRIF: Loss of expression of GMPR2 and PPARalpha is associated
            with breast cancer basal phenotype; indicating that they may play a
            role in carcinogenesis.
REFERENCE   2  (residues 1 to 427)
  AUTHORS   Patton GC, Stenmark P, Gollapalli DR, Sevastik R, Kursula P, Flodin
            S, Schuler H, Swales CT, Eklund H, Himo F, Nordlund P and Hedstrom
            L.
  TITLE     Cofactor mobility determines reaction outcome in the IMPDH and GMPR
            (beta-alpha)8 barrel enzymes
  JOURNAL   Nat Chem Biol 7 (12), 950-958 (2011)
   PUBMED   22037469
  REMARK    GeneRIF: A single crystal structure of human GMPR type 2 with IMP
            and NADPH fortuitously captures three different states, each of
            which mimics a distinct step in the catalytic cycle of guanosine
            monophosphate reductase(GMPR).
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 427)
  AUTHORS   Zhang J, Zhang W, Zou D, Chen G, Wan T, Zhang M and Cao X.
  TITLE     Cloning and functional characterization of GMPR2, a novel human
            guanosine monophosphate reductase, which promotes the monocytic
            differentiation of HL-60 leukemia cells
  JOURNAL   J Cancer Res Clin Oncol 129 (2), 76-83 (2003)
   PUBMED   12669231
  REMARK    GeneRIF: GMPR2 is a novel human GMP reductase, and overexpression
            of GMPR2 can promote the monocytic differentiation of HL-60
            leukemia cells.
REFERENCE   4  (residues 1 to 427)
  AUTHORS   Deng Y, Wang Z, Ying K, Gu S, Ji C, Huang Y, Gu X, Wang Y, Xu Y, Li
            Y, Xie Y and Mao Y.
  TITLE     NADPH-dependent GMP reductase isoenzyme of human (GMPR2).
            Expression, purification, and kinetic properties
  JOURNAL   Int J Biochem Cell Biol 34 (9), 1035-1050 (2002)
   PUBMED   12009299
  REMARK    GeneRIF: Data suggest the existence of two distinct types of human
            GMP reductase molecular species, which can be used to explain the
            bimodal saturation curve noted with purified human erythrocyte GMP
            reductase.
REFERENCE   5  (residues 1 to 427)
  AUTHORS   Spector,T., Jones,T.E. and Miller,R.L.
  TITLE     Reaction mechanism and specificity of human GMP reductase.
            Substrates, inhibitors, activators, and inactivators
  JOURNAL   J Biol Chem 254 (7), 2308-2315 (1979)
   PUBMED   218932
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC003053.1 and BC009832.2.
            
            Summary: This gene encodes an enzyme that catalyzes the
            irreversible and NADPH-dependent reductive deamination of guanosine
            monophosphate (GMP) to inosine monophosphate (IMP). The protein
            also functions in the re-utilization of free intracellular bases
            and purine nucleosides. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (6) contains an alternate in-frame
            segment in the 3' coding region, compared to variant 1. The encoded
            isoform (4) is longer than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC003053.1, SRR1660803.55885.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..427
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     Protein         1..427
                     /product="GMP reductase 2 isoform 4"
                     /EC_number="1.7.1.7"
                     /note="guanosine monophosphate reductase isolog; GMP
                     reductase 2; guanosine 5'-monophosphate oxidoreductase 2"
                     /calculated_mol_wt=46807
     Region          21..424
                     /region_name="PRK05096"
                     /note="guanosine 5'-monophosphate oxidoreductase;
                     Provisional"
                     /db_xref="CDD:235343"
     CDS             1..427
                     /gene="GMPR2"
                     /gene_synonym="GMPR 2"
                     /coded_by="NM_001283022.2:272..1555"
                     /note="isoform 4 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS73624.1"
                     /db_xref="GeneID:51292"
                     /db_xref="HGNC:HGNC:4377"
                     /db_xref="MIM:610781"
ORIGIN      
        1 mtsclpalrf iatprlsamp hidndvkldf kdvllrpkrs tlksrsevdl trsfsfrnsk
       61 qtysgvpiia anmdtvgtfe makvlckfsl ftavhkhysl vqwqefagqn pdclehlaas
      121 sgtgssdfeq leqileaipq vkyicldvan gysehfvefv kdvrkrfpqh timagnvvtg
      181 emveelilsg adiikvgigp gsvcttrkkt gvgypqlsav mecadaahgl kghiisdggc
      241 scpgdvakaf gagadfvmlg gmlaghsesg gelierdgkk yklfygmsse mamkkyaggv
      301 aeyryvwrpr slvivwrqns wllrggwyss qrsmvnrgsm lgsvekslgl rnpegednkv
      361 fptlrasegk tvevpfkgdv ehtirdilgg irstctyvga aklkelsrrt tfirvtqqvn
      421 pifseac
//
LOCUS       NP_001340626             447 aa            linear   PRI 27-DEC-2022
DEFINITION  CUGBP Elav-like family member 4 isoform 55 [Homo sapiens].
ACCESSION   NP_001340626 XP_016881349
VERSION     NP_001340626.1
DBSOURCE    REFSEQ: accession NM_001353697.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 447)
  AUTHORS   Teerlink CC, Stevens J, Hernandez R, Facelli JC and Cannon-Albright
            LA.
  TITLE     An intronic variant in the CELF4 gene is associated with risk for
            colorectal cancer
  JOURNAL   Cancer Epidemiol 72, 101941 (2021)
   PUBMED   33930674
  REMARK    GeneRIF: An intronic variant in the CELF4 gene is associated with
            risk for colorectal cancer.
REFERENCE   2  (residues 1 to 447)
  AUTHORS   Barone R, Fichera M, De Grandi M, Battaglia M, Lo Faro V, Mattina T
            and Rizzo R.
  TITLE     Familial 18q12.2 deletion supports the role of RNA-binding protein
            CELF4 in autism spectrum disorders
  JOURNAL   Am J Med Genet A 173 (6), 1649-1655 (2017)
   PUBMED   28407444
  REMARK    GeneRIF: The present study refines the molecular and
            neuropsychiatric phenotype associated with 18q12.2 deletion leading
            to CELF4 haploinsufficiency and provides evidence for a role for
            CELF4 in brain development and autism spectrum disorders.
REFERENCE   3  (residues 1 to 447)
  AUTHORS   Wang X, Sun CL, Quinones-Lombrana A, Singh P, Landier W, Hageman L,
            Mather M, Rotter JI, Taylor KD, Chen YD, Armenian SH, Winick N,
            Ginsberg JP, Neglia JP, Oeffinger KC, Castellino SM, Dreyer ZE,
            Hudson MM, Robison LL, Blanco JG and Bhatia S.
  TITLE     CELF4 Variant and Anthracycline-Related Cardiomyopathy: A
            Children's Oncology Group Genome-Wide Association Study
  JOURNAL   J Clin Oncol 34 (8), 863-870 (2016)
   PUBMED   26811534
  REMARK    GeneRIF: Authors report a modifying effect of a polymorphism of
            CELF4 on the dose-dependent association between anthracyclines and
            cardiomyopathy, which possibly occurs through a pathway that
            involves the expression of abnormally spliced TNNT2 variants.
REFERENCE   4  (residues 1 to 447)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen
            AA, Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke
            L, Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM,
            Tiemeier H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst
            FC, Ward ME, Wright MJ, Davey Smith G, Deary IJ, Johannesson M,
            Plomin R, Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   5  (residues 1 to 447)
  AUTHORS   St Pourcain B, Skuse DH, Mandy WP, Wang K, Hakonarson H, Timpson
            NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding J and Smith GD.
  TITLE     Variability in the common genetic architecture of
            social-communication spectrum phenotypes during childhood and
            adolescence
  JOURNAL   Mol Autism 5 (1), 18 (2014)
   PUBMED   24564958
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 447)
  AUTHORS   Singh G, Charlet-B N, Han J and Cooper TA.
  TITLE     ETR-3 and CELF4 protein domains required for RNA binding and
            splicing activity in vivo
  JOURNAL   Nucleic Acids Res 32 (3), 1232-1241 (2004)
   PUBMED   14973222
  REMARK    GeneRIF: Determination of CELF4 protein domains required for RNA
            splicing.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 447)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 447)
  AUTHORS   Tchernev VT, Mansfield TA, Giot L, Kumar AM, Nandabalan K, Li Y,
            Mishra VS, Detter JC, Rothberg JM, Wallace MR, Southwick FS and
            Kingsmore SF.
  TITLE     The Chediak-Higashi protein interacts with SNARE complex and signal
            transduction proteins
  JOURNAL   Mol Med 8 (1), 56-64 (2002)
   PUBMED   11984006
REFERENCE   9  (residues 1 to 447)
  AUTHORS   Ladd AN, Charlet N and Cooper TA.
  TITLE     The CELF family of RNA binding proteins is implicated in
            cell-specific and developmentally regulated alternative splicing
  JOURNAL   Mol Cell Biol 21 (4), 1285-1296 (2001)
   PUBMED   11158314
REFERENCE   10 (residues 1 to 447)
  AUTHORS   Good PJ, Chen Q, Warner SJ and Herring DC.
  TITLE     A family of human RNA-binding proteins related to the Drosophila
            Bruno translational regulator
  JOURNAL   J Biol Chem 275 (37), 28583-28592 (2000)
   PUBMED   10893231
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC129908.4, AC090386.13 and
            AC015961.16.
            On Jul 21, 2017 this sequence version replaced XP_016881349.1.
            
            Summary: Members of the CELF/BRUNOL protein family contain two
            N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM
            domain, and a divergent segment of 160-230 aa between the second
            and third RRM domains. Members of this protein family regulate
            pre-mRNA alternative splicing and may also be involved in mRNA
            editing, and translation. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.59554.1,
                                           SRR1803614.90258.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..447
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.2"
     Protein         1..447
                     /product="CUGBP Elav-like family member 4 isoform 55"
                     /note="LYST-interacting protein LIP9; CUG-BP- and
                     ETR-3-like factor 4; RNA-binding protein BRUNOL4;
                     bruno-like protein 4; bruno-like 4, RNA binding protein"
                     /calculated_mol_wt=47467
     Region          49..135
                     /region_name="RRM1_CELF3_4_5_6"
                     /note="RNA recognition motif 1 (RRM1) found in CUGBP
                     Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and
                     similar proteins; cd12632"
                     /db_xref="CDD:410041"
     Site            order(55,57,59..60,63,82,84,86,95..97,99,129,131)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410041"
     Region          140..220
                     /region_name="RRM2_CELF3_4_5_6"
                     /note="RNA recognition motif 2 (RRM2) found in CUGBP
                     Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and
                     similar proteins; cd12635"
                     /db_xref="CDD:410043"
     Site            order(142,144,146..147,150,169,171,173,181..183,185,215,
                     217)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410043"
     Region          <406..446
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     CDS             1..447
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /coded_by="NM_001353697.2:158..1501"
                     /note="isoform 55 is encoded by transcript variant 55"
                     /db_xref="GeneID:56853"
                     /db_xref="HGNC:HGNC:14015"
                     /db_xref="MIM:612679"
ORIGIN      
        1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq
       61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt
      121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns
      181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf
      241 npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa lnmnglaaap
      301 mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang ihpypaqspt
      361 aadplqqaya gvqqyagpaa ypaaygqisq afpqpppmip qqqregfvsf dnpasaqtai
      421 qamngfqigm krlkvqlkrp kdanrpy
//
LOCUS       NP_001310316             358 aa            linear   PRI 27-DEC-2022
DEFINITION  dematin isoform 3 [Homo sapiens].
ACCESSION   NP_001310316
VERSION     NP_001310316.1
DBSOURCE    REFSEQ: accession NM_001323387.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 358)
  AUTHORS   Wang M, Chen B, Zhang W, Zhang F, Qiu Y, Lin Y and Yang S.
  TITLE     Dematin inhibits glioblastoma malignancy through RhoA-mediated CDKs
            downregulation and cytoskeleton remodeling
  JOURNAL   Exp Cell Res 417 (1), 113196 (2022)
   PUBMED   35561787
  REMARK    GeneRIF: Dematin inhibits glioblastoma malignancy through
            RhoA-mediated CDKs downregulation and cytoskeleton remodeling.
REFERENCE   2  (residues 1 to 358)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 358)
  AUTHORS   Brandt GS and Bailey S.
  TITLE     Dematin, a human erythrocyte cytoskeletal protein, is a substrate
            for a recombinant FIKK kinase from Plasmodium falciparum
  JOURNAL   Mol Biochem Parasitol 191 (1), 20-23 (2013)
   PUBMED   23973789
REFERENCE   4  (residues 1 to 358)
  AUTHORS   Chen L, Brown JW, Mok YF, Hatters DM and McKnight CJ.
  TITLE     The allosteric mechanism induced by protein kinase A (PKA)
            phosphorylation of dematin (band 4.9)
  JOURNAL   J Biol Chem 288 (12), 8313-8320 (2013)
   PUBMED   23355471
  REMARK    GeneRIF: When unphosphorylated, dematin's two F-actin binding
            domains move independent of one another permitting them to bind
            different F-actin filaments.
            Erratum:[J Biol Chem. 2015 Jul 17;290(29):17808. PMID: 26188045]
REFERENCE   5  (residues 1 to 358)
  AUTHORS   Mohseni,M. and Chishti,A.H.
  TITLE     Erythrocyte dematin is a candidate gene for Marie Unna hereditary
            hypotrichosis and related hairloss disorders
  JOURNAL   Am J Hematol 83 (5), 430-432 (2008)
   PUBMED   18273904
REFERENCE   6  (residues 1 to 358)
  AUTHORS   Lutchman M, Kim AC, Cheng L, Whitehead IP, Oh SS, Hanspal M,
            Boukharov AA, Hanada T and Chishti AH.
  TITLE     Dematin interacts with the Ras-guanine nucleotide exchange factor
            Ras-GRF2 and modulates mitogen-activated protein kinase pathways
  JOURNAL   Eur J Biochem 269 (2), 638-649 (2002)
   PUBMED   11856323
REFERENCE   7  (residues 1 to 358)
  AUTHORS   Lutchman M, Pack S, Kim AC, Azim A, Emmert-Buck M, van Huffel C,
            Zhuang Z and Chishti AH.
  TITLE     Loss of heterozygosity on 8p in prostate cancer implicates a role
            for dematin in tumor progression
  JOURNAL   Cancer Genet Cytogenet 115 (1), 65-69 (1999)
   PUBMED   10565303
REFERENCE   8  (residues 1 to 358)
  AUTHORS   Azim AC, Marfatia SM, Korsgren C, Dotimas E, Cohen CM and Chishti
            AH.
  TITLE     Human erythrocyte dematin and protein 4.2 (pallidin) are ATP
            binding proteins
  JOURNAL   Biochemistry 35 (9), 3001-3006 (1996)
   PUBMED   8608138
REFERENCE   9  (residues 1 to 358)
  AUTHORS   Azim AC, Knoll JH, Beggs AH and Chishti AH.
  TITLE     Isoform cloning, actin binding, and chromosomal localization of
            human erythroid dematin, a member of the villin superfamily
  JOURNAL   J Biol Chem 270 (29), 17407-17413 (1995)
   PUBMED   7615546
REFERENCE   10 (residues 1 to 358)
  AUTHORS   Rana AP, Ruff P, Maalouf GJ, Speicher DW and Chishti AH.
  TITLE     Cloning of human erythroid dematin reveals another member of the
            villin family
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6651-6655 (1993)
   PUBMED   8341682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091171.15, BM547218.1,
            BC052805.1, DA267327.1, AK091581.1 and BI222385.1.
            
            Summary: The protein encoded by this gene is an actin binding and
            bundling protein that plays a structural role in erythrocytes, by
            stabilizing and attaching the spectrin/actin cytoskeleton to the
            erythrocyte membrane in a phosphorylation-dependent manner. This
            protein contains a core domain in the N-terminus, and a headpiece
            domain in the C-terminus that binds F-actin. When purified from
            erythrocytes, this protein exists as a trimer composed of two 48
            kDa polypeptides and a 52 kDa polypeptide. The different subunits
            arise from alternative splicing in the 3' coding region, where the
            headpiece domain is located. Disruption of this gene has been
            correlated with the autosomal dominant Marie Unna hereditary
            hypotrichosis disease, while loss of heterozygosity of this gene is
            thought to play a role in prostate cancer progression. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Nov 2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.223853.1,
                                           SRR1660803.202924.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..358
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     Protein         1..358
                     /product="dematin isoform 3"
                     /note="erythrocyte membrane protein band 4.9 (dematin)"
                     /calculated_mol_wt=40549
     Region          7..308
                     /region_name="AbLIM_anchor"
                     /note="Putative adherens-junction anchoring region of
                     AbLIM; pfam16182"
                     /db_xref="CDD:435194"
     Region          323..358
                     /region_name="VHP"
                     /note="Villin headpiece domain; smart00153"
                     /db_xref="CDD:128458"
     CDS             1..358
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /coded_by="NM_001323387.2:495..1571"
                     /note="isoform 3 is encoded by transcript variant 17"
                     /db_xref="CCDS:CCDS47821.1"
                     /db_xref="GeneID:2039"
                     /db_xref="HGNC:HGNC:3382"
                     /db_xref="MIM:125305"
ORIGIN      
        1 merlqkakmd nqvlgykdla aipkdkaild ierpdlmiye phftyslleh velprsrers
       61 lspkstsppp spevwadsrs pgiisqasap rttgtprtsl phfhhpetsr pdsniykkpp
      121 iykqresvgg spqtkhlied liiesskfpa aqppdpnqpa kietdywpcp pslavvetew
      181 rkrkasrrga eeeeeeeddd sgeemkalre rqreelskvt snlgkmilke emekslpirr
      241 ktrslpdrtp fhtslhqgts kssslpaygr ttlsrlqste fspsgsetgs pglqiypyem
      301 lvvtnkgrtk lppgvdrmrl erhlsaedfs rvfamspeef gklalwkrne lkkkaslf
//
LOCUS       NP_003093                240 aa            linear   PRI 27-DEC-2022
DEFINITION  extracellular superoxide dismutase [Cu-Zn] preproprotein [Homo
            sapiens].
ACCESSION   NP_003093
VERSION     NP_003093.2
DBSOURCE    REFSEQ: accession NM_003102.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 240)
  AUTHORS   Garcia-Valero J, Olloquequi J, Rodriguez E, Martin-Satue M, Texido
            L and Ferrer J.
  TITLE     Decreased Expression of EC-SOD and Fibulin-5 in Alveolar Walls of
            Lungs From COPD Patients
  JOURNAL   Arch Bronconeumol 58 (6), 482-489 (2022)
   PUBMED   35312591
  REMARK    GeneRIF: Decreased Expression of EC-SOD and Fibulin-5 in Alveolar
            Walls of Lungs From COPD Patients.
REFERENCE   2  (residues 1 to 240)
  AUTHORS   Ejlersen M, Ilieva M and Michel TM.
  TITLE     Superoxide dismutase isozymes in cerebral organoids from autism
            spectrum disorder patients
  JOURNAL   J Neural Transm (Vienna) 129 (5-6), 617-626 (2022)
   PUBMED   35266053
  REMARK    GeneRIF: Superoxide dismutase isozymes in cerebral organoids from
            autism spectrum disorder patients.
REFERENCE   3  (residues 1 to 240)
  AUTHORS   Kamiya T, Yamaguchi Y, Oka M and Hara H.
  TITLE     Combined action of FOXO1 and superoxide dismutase 3 promotes
            MDA-MB-231 cell migration
  JOURNAL   Free Radic Res 56 (1), 106-114 (2022)
   PUBMED   35271779
  REMARK    GeneRIF: Combined action of FOXO1 and superoxide dismutase 3
            promotes MDA-MB-231 cell migration.
REFERENCE   4  (residues 1 to 240)
  AUTHORS   Fukai T and Ushio-Fukai M.
  TITLE     Superoxide dismutases: role in redox signaling, vascular function,
            and diseases
  JOURNAL   Antioxid Redox Signal 15 (6), 1583-1606 (2011)
   PUBMED   21473702
  REMARK    Review article
REFERENCE   5  (residues 1 to 240)
  AUTHORS   Petersen SV, Oury TD, Ostergaard L, Valnickova Z, Wegrzyn J,
            Thogersen IB, Jacobsen C, Bowler RP, Fattman CL, Crapo JD and
            Enghild JJ.
  TITLE     Extracellular superoxide dismutase (EC-SOD) binds to type i
            collagen and protects against oxidative fragmentation
  JOURNAL   J Biol Chem 279 (14), 13705-13710 (2004)
   PUBMED   14736885
REFERENCE   6  (residues 1 to 240)
  AUTHORS   Stern LF, Chapman NH, Wijsman EM, Altherr MR and Rosen DR.
  TITLE     Assignment of SOD3 to human chromosome band 4p15.3-->p15.1 with
            somatic cell and radiation hybrid mapping, linkage mapping, and
            fluorescent in-situ hybridization
  JOURNAL   Cytogenet Genome Res 101 (2), 178 (2003)
   PUBMED   14619883
  REMARK    GeneRIF: Chromosome mapping of SOD3 to chromosome band
            4p15.3-->p15.1.
REFERENCE   7  (residues 1 to 240)
  AUTHORS   Enghild JJ, Thogersen IB, Oury TD, Valnickova Z, Hojrup P and Crapo
            JD.
  TITLE     The heparin-binding domain of extracellular superoxide dismutase is
            proteolytically processed intracellularly during biosynthesis
  JOURNAL   J Biol Chem 274 (21), 14818-14822 (1999)
   PUBMED   10329680
REFERENCE   8  (residues 1 to 240)
  AUTHORS   Adachi T, Ohta H, Yamada H, Futenma A, Kato K and Hirano K.
  TITLE     Quantitative analysis of extracellular-superoxide dismutase in
            serum and urine by ELISA with monoclonal antibody
  JOURNAL   Clin Chim Acta 212 (3), 89-102 (1992)
   PUBMED   1477980
REFERENCE   9  (residues 1 to 240)
  AUTHORS   Adachi T, Ohta H, Hayashi K, Hirano K and Marklund SL.
  TITLE     The site of nonenzymic glycation of human extracellular-superoxide
            dismutase in vitro
  JOURNAL   Free Radic Biol Med 13 (3), 205-210 (1992)
   PUBMED   1505778
REFERENCE   10 (residues 1 to 240)
  AUTHORS   Hjalmarsson,K., Marklund,S.L., Engstrom,A. and Edlund,T.
  TITLE     Isolation and sequence of complementary DNA encoding human
            extracellular superoxide dismutase
  JOURNAL   Proc Natl Acad Sci U S A 84 (18), 6340-6344 (1987)
   PUBMED   3476950
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006390.8.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 1, 2006 this sequence version replaced NP_003093.1.
            
            Summary: This gene encodes a member of the superoxide dismutase
            (SOD) protein family. SODs are antioxidant enzymes that catalyze
            the conversion of superoxide radicals into hydrogen peroxide and
            oxygen, which may protect the brain, lungs, and other tissues from
            oxidative stress. Proteolytic processing of the encoded protein
            results in the formation of two distinct homotetramers that differ
            in their ability to interact with the extracellular matrix (ECM).
            Homotetramers consisting of the intact protein, or type C subunit,
            exhibit high affinity for heparin and are anchored to the ECM.
            Homotetramers consisting of a proteolytically cleaved form of the
            protein, or type A subunit, exhibit low affinity for heparin and do
            not interact with the ECM. A mutation in this gene may be
            associated with increased heart disease risk. [provided by RefSeq,
            Oct 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC014418.1, J02947.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382120.4/ ENSP00000371554.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p15.2"
     Protein         1..240
                     /product="extracellular superoxide dismutase [Cu-Zn]
                     preproprotein"
                     /EC_number="1.15.1.1"
                     /note="testicular tissue protein Li 175; superoxide
                     dismutase 3, extracellular"
                     /calculated_mol_wt=24133
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1736
     mat_peptide     19..240
                     /product="extracellular superoxide dismutase type C
                     subunit"
                     /calculated_mol_wt=24133
     mat_peptide     19..227
                     /product="extracellular superoxide dismutase type A
                     subunit"
                     /experiment="COORDINATES:mass spectrometry[PMID: 10329680
                     ]"
                     /calculated_mol_wt=22533
     Site            41
                     /site_type="other"
                     /note="Not glycated; propagated from UniProtKB/Swiss-Prot
                     (P08294.2)"
     Site            order(70,81,83,118..120,174..175)
                     /site_type="other"
                     /note="E-class dimer interface [polypeptide binding]"
                     /db_xref="CDD:238186"
     Region          78..210
                     /region_name="Sod_Cu"
                     /note="Copper/zinc superoxide dismutase (SODC); pfam00080"
                     /db_xref="CDD:425456"
     Site            order(92,150)
                     /site_type="other"
                     /note="P-class dimer interface [polypeptide binding]"
                     /db_xref="CDD:238186"
     Site            92
                     /site_type="other"
                     /note="Not glycated; propagated from UniProtKB/Swiss-Prot
                     (P08294.2)"
     Site            107
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P08294.2)"
     Site            order(114,116,131,142,145,181)
                     /site_type="active"
                     /db_xref="CDD:238186"
     Site            order(114,116,131,181)
                     /site_type="other"
                     /note="Cu2+ binding site [ion binding]"
                     /db_xref="CDD:238186"
     Site            order(131,139,142,145)
                     /site_type="other"
                     /note="Zn2+ binding site [ion binding]"
                     /db_xref="CDD:238186"
     Site            229
                     /site_type="glycosylation"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:1505778; propagated from
                     UniProtKB/Swiss-Prot (P08294.2)"
     Site            230
                     /site_type="glycosylation"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:1505778; propagated from
                     UniProtKB/Swiss-Prot (P08294.2)"
     Site            238
                     /site_type="other"
                     /note="Not glycated; propagated from UniProtKB/Swiss-Prot
                     (P08294.2)"
     CDS             1..240
                     /gene="SOD3"
                     /gene_synonym="EC-SOD"
                     /coded_by="NM_003102.4:96..818"
                     /db_xref="CCDS:CCDS3430.1"
                     /db_xref="GeneID:6649"
                     /db_xref="HGNC:HGNC:11181"
                     /db_xref="MIM:185490"
ORIGIN      
        1 mlallcscll laagasdawt gedsaepnsd saewirdmya kvteiwqevm qrrdddgalh
       61 aacqvqpsat ldaaqprvtg vvlfrqlapr akldaffale gfptepnsss raihvhqfgd
      121 lsqgcestgp hynplavphp qhpgdfgnfa vrdgslwryr aglaaslagp hsivgravvv
      181 hageddlgrg gnqasvengn agrrlaccvv gvcgpglwer qarehserkk rrreseckaa
//
LOCUS       NP_001358237             146 aa            linear   PRI 27-DEC-2022
DEFINITION  cytochrome c oxidase assembly factor 1 homolog isoform a [Homo
            sapiens].
ACCESSION   NP_001358237 XP_024302601
VERSION     NP_001358237.1
DBSOURCE    REFSEQ: accession NM_001371308.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 146)
  AUTHORS   Kim SK, Nguyen C, Horton BH, Avins AL and Abrams GD.
  TITLE     Association of COA1 with Patellar Tendonitis: A Genome-wide
            Association Analysis
  JOURNAL   Med Sci Sports Exerc 53 (11), 2419-2424 (2021)
   PUBMED   34081057
  REMARK    GeneRIF: Association of COA1 with Patellar Tendonitis: A
            Genome-wide Association Analysis.
REFERENCE   2  (residues 1 to 146)
  AUTHORS   Formosa LE, Muellner-Wong L, Reljic B, Sharpe AJ, Jackson TD,
            Beilharz TH, Stojanovski D, Lazarou M, Stroud DA and Ryan MT.
  TITLE     Dissecting the Roles of Mitochondrial Complex I Intermediate
            Assembly Complex Factors in the Biogenesis of Complex I
  JOURNAL   Cell Rep 31 (3), 107541 (2020)
   PUBMED   32320651
REFERENCE   3  (residues 1 to 146)
  AUTHORS   Wang C, Richter-Dennerlein R, Pacheu-Grau D, Liu F, Zhu Y,
            Dennerlein S and Rehling P.
  TITLE     MITRAC15/COA1 promotes mitochondrial translation in a ND2
            ribosome-nascent chain complex
  JOURNAL   EMBO Rep 21 (1), e48833 (2020)
   PUBMED   31721420
  REMARK    GeneRIF: MITRAC15/COA1 promotes mitochondrial translation in a ND2
            ribosome-nascent chain complex.
REFERENCE   4  (residues 1 to 146)
  AUTHORS   Fellenberg J, Sahr H, Kunz P, Zhao Z, Liu L, Tichy D and Herr I.
  TITLE     Restoration of miR-127-3p and miR-376a-3p counteracts the
            neoplastic phenotype of giant cell tumor of bone derived stromal
            cells by targeting COA1, GLE1 and PDIA6
  JOURNAL   Cancer Lett 371 (1), 134-141 (2016)
   PUBMED   26655997
  REMARK    GeneRIF: Restoration of miR-127-3p and miR-376a-3p counteracts the
            neoplastic phenotype of giant cell tumor of bone derived stromal
            cells by targeting COA1, GLE1 and PDIA6.
REFERENCE   5  (residues 1 to 146)
  AUTHORS   Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi
            I, Sasarman F, Weraarpachai W, Shoubridge EA, Warscheid B and
            Rehling P.
  TITLE     MITRAC links mitochondrial protein translocation to
            respiratory-chain assembly and translational regulation
  JOURNAL   Cell 151 (7), 1528-1541 (2012)
   PUBMED   23260140
REFERENCE   6  (residues 1 to 146)
  AUTHORS   Szklarczyk R, Wanschers BF, Cuypers TD, Esseling JJ, Riemersma M,
            van den Brand MA, Gloerich J, Lasonder E, van den Heuvel LP,
            Nijtmans LG and Huynen MA.
  TITLE     Iterative orthology prediction uncovers new mitochondrial proteins
            and identifies C12orf62 as the human ortholog of COX14, a protein
            involved in the assembly of cytochrome c oxidase
  JOURNAL   Genome Biol 13 (2), R12 (2012)
   PUBMED   22356826
  REMARK    GeneRIF: Human ortholog of fungal COA1 (Cytochrome Oxidase Assembly
            1)
            GeneRIF: Encodes a mitochondrial protein
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005189.2.
            On Jul 9, 2019 this sequence version replaced XP_024302601.1.
            
            Transcript Variant: This variant (28), as well as variants 1, 3-6,
            16-19, 27, and 29-36, encodes isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.249473.1,
                                           SRR14243140.8376651.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..146
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p13"
     Protein         1..146
                     /product="cytochrome c oxidase assembly factor 1 homolog
                     isoform a"
                     /note="cytochrome c oxidase assembly protein 1 homolog;
                     mitochondrial translation regulation assembly intermediate
                     of cytochrome c oxidase protein of 15 kDa; cytochrome c
                     oxidase assembly factor 1 homolog"
                     /calculated_mol_wt=16563
     Site            15..37
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZY4.1)"
     Region          18..134
                     /region_name="Coa1"
                     /note="Cytochrome oxidase complex assembly protein 1;
                     pfam08695"
                     /db_xref="CDD:430157"
     CDS             1..146
                     /gene="COA1"
                     /gene_synonym="C7orf44; MITRAC15"
                     /coded_by="NM_001371308.1:309..749"
                     /note="isoform a is encoded by transcript variant 28"
                     /db_xref="CCDS:CCDS5471.1"
                     /db_xref="GeneID:55744"
                     /db_xref="HGNC:HGNC:21868"
                     /db_xref="MIM:614769"
ORIGIN      
        1 mmwqkyagsr rsmplgaril fhgvfyaggf aivyyliqkf hsralyykla veqlqshpea
       61 qealgpplni hylklidren fvdivdaklk ipvsgskseg llyvhssrgg pfqrwhldev
      121 flelkdgqqi pvfklsgeng devkke
//
LOCUS       NP_001185707             764 aa            linear   PRI 27-DEC-2022
DEFINITION  cullin-2 isoform a [Homo sapiens].
ACCESSION   NP_001185707
VERSION     NP_001185707.1
DBSOURCE    REFSEQ: accession NM_001198778.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 764)
  AUTHORS   Ji Z, Wang X, Liu Y, Zhong M, Sun J and Shang J.
  TITLE     MicroRNA-574-3p Regulates HIF-alpha Isoforms Promoting Gastric
            Cancer Epithelial-Mesenchymal Transition via Targeting CUL2
  JOURNAL   Dig Dis Sci 67 (8), 3714-3724 (2022)
   PUBMED   34655362
  REMARK    GeneRIF: MicroRNA-574-3p Regulates HIF-alpha Isoforms Promoting
            Gastric Cancer Epithelial-Mesenchymal Transition via Targeting
            CUL2.
REFERENCE   2  (residues 1 to 764)
  AUTHORS   Fonseca BF and Chakrabarti LA.
  TITLE     A close shave: How SARS-CoV-2 induces the loss of cilia
  JOURNAL   J Cell Biol 221 (7) (2022)
   PUBMED   35695891
  REMARK    GeneRIF: A close shave: How SARS-CoV-2 induces the loss of cilia.
REFERENCE   3  (residues 1 to 764)
  AUTHORS   Meng L, Zhang Y, Wu P, Li D, Lu Y, Shen P, Yang T, Shi G, Chen Q,
            Yuan H, Ge W, Miao Y, Tu M and Jiang K.
  TITLE     CircSTX6 promotes pancreatic ductal adenocarcinoma progression by
            sponging miR-449b-5p and interacting with CUL2
  JOURNAL   Mol Cancer 21 (1), 121 (2022)
   PUBMED   35650603
  REMARK    GeneRIF: CircSTX6 promotes pancreatic ductal adenocarcinoma
            progression by sponging miR-449b-5p and interacting with CUL2.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 764)
  AUTHORS   Hirth CG, Vasconcelos GR, da Cunha MDPSS, Leite CHB and Dornelas
            CA.
  TITLE     Immunoexpression of HSPA9 and CUL2 in prostatic tissue and
            adenocarcinoma
  JOURNAL   Ann Diagn Pathol 56, 151843 (2022)
   PUBMED   34717191
  REMARK    GeneRIF: Immunoexpression of HSPA9 and CUL2 in prostatic tissue and
            adenocarcinoma.
REFERENCE   5  (residues 1 to 764)
  AUTHORS   Le TT, Ainsworth J, Polo Rivera C, Macartney T and Labib KPM.
  TITLE     Reconstitution of human CMG helicase ubiquitylation by CUL2LRR1 and
            multiple E2 enzymes
  JOURNAL   Biochem J 478 (14), 2825-2842 (2021)
   PUBMED   34195792
  REMARK    GeneRIF: Reconstitution of human CMG helicase ubiquitylation by
            CUL2LRR1 and multiple E2 enzymes.
REFERENCE   6  (residues 1 to 764)
  AUTHORS   Wada H, Yeh ET and Kamitani T.
  TITLE     Identification of NEDD8-conjugation site in human cullin-2
  JOURNAL   Biochem Biophys Res Commun 257 (1), 100-105 (1999)
   PUBMED   10092517
REFERENCE   7  (residues 1 to 764)
  AUTHORS   Lonergan KM, Iliopoulos O, Ohh M, Kamura T, Conaway RC, Conaway JW
            and Kaelin WG Jr.
  TITLE     Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau
            tumor suppressor protein requires binding to complexes containing
            elongins B/C and Cul2
  JOURNAL   Mol Cell Biol 18 (2), 732-741 (1998)
   PUBMED   9447969
REFERENCE   8  (residues 1 to 764)
  AUTHORS   Pause A, Lee S, Worrell RA, Chen DY, Burgess WH, Linehan WM and
            Klausner RD.
  TITLE     The von Hippel-Lindau tumor-suppressor gene product forms a stable
            complex with human CUL-2, a member of the Cdc53 family of proteins
  JOURNAL   Proc Natl Acad Sci U S A 94 (6), 2156-2161 (1997)
   PUBMED   9122164
REFERENCE   9  (residues 1 to 764)
  AUTHORS   Kipreos ET, Lander LE, Wing JP, He WW and Hedgecock EM.
  TITLE     cul-1 is required for cell cycle exit in C. elegans and identifies
            a novel gene family
  JOURNAL   Cell 85 (6), 829-839 (1996)
   PUBMED   8681378
REFERENCE   10 (residues 1 to 764)
  AUTHORS   Kibel A, Iliopoulos O, DeCaprio JA and Kaelin WG Jr.
  TITLE     Binding of the von Hippel-Lindau tumor suppressor protein to
            Elongin B and C
  JOURNAL   Science 269 (5229), 1444-1446 (1995)
   PUBMED   7660130
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC401811.1, BC009591.1, AL392046.11 and AI089201.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK300491.1, SRR5189667.361880.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..764
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p11.21"
     Protein         1..764
                     /product="cullin-2 isoform a"
                     /note="CUL-2; testis secretory sperm-binding protein Li
                     238E"
                     /calculated_mol_wt=89361
     Region          33..663
                     /region_name="Cullin"
                     /note="Cullin family; pfam00888"
                     /db_xref="CDD:425932"
     Region          694..754
                     /region_name="Cullin_Nedd8"
                     /note="Cullin protein neddylation domain; pfam10557"
                     /db_xref="CDD:431356"
     CDS             1..764
                     /gene="CUL2"
                     /coded_by="NM_001198778.2:58..2352"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS55709.1"
                     /db_xref="GeneID:8453"
                     /db_xref="HGNC:HGNC:2552"
                     /db_xref="MIM:603135"
ORIGIN      
        1 myrvtwstfw lrfqhytctm slkprvvdfd etwnklltti kavvmleyve ratwndrfsd
       61 iyalcvaype plgerlytet kiflenhvrh lhkrvlesee qvlvmyhryw eeyskgadym
      121 dclyrylntq fikknkltea dlqygyggvd mneplmeige laldmwrklm veplqailir
      181 mllreikndr ggedpnqkvi hgvinsfvhv eqykkkfplk fyqeifespf ltetgeyykq
      241 easnllqesn csqymekvlg rlkdeeircr kylhpssytk vihecqqrmv adhlqflhae
      301 chniirqekk ndmanmyvll ravstglphm iqelqnhihd eglratsnlt qenmptlfve
      361 svlevhgkfv qlintvlngd qhfmsaldka ltsvvnyrep ksvckapell akycdnllkk
      421 sakgmtenev edrltsfitv fkyiddkdvf qkfyarmlak rlihglsmsm dseeaminkl
      481 kqacgyefts klhrmytdms vsadlnnkfn nfiknqdtvi dlgisfqiyv lqagawpltq
      541 apsstfaipq eleksvqmfe lfysqhfsgr kltwlhylct gevkmnylgk pyvamvttyq
      601 mavllafnns etvsykelqd stqmnekelt ktikslldvk minhdseked idaessfsln
      661 mnfsskrtkf kittsmqkdt pqemeqtrsa vdedrkmylq aaivrimkar kvlrhnaliq
      721 evisqsrarf npsismikkc ievlidkqyi ersqasadey syva
//
LOCUS       NP_001362870             374 aa            linear   PRI 27-DEC-2022
DEFINITION  PTB domain-containing engulfment adapter protein 1 isoform e [Homo
            sapiens].
ACCESSION   NP_001362870
VERSION     NP_001362870.1
DBSOURCE    REFSEQ: accession NM_001375941.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 374)
  AUTHORS   Hayashi M, Guida E, Inokawa Y, Goldberg R, Reis LO, Ooki A, Pilli
            M, Sadhukhan P, Woo J, Choi W, Izumchenko E, Gonzalez LM,
            Marchionni L, Zhavoronkov A, Brait M, Bivalacqua T, Baras A, Netto
            GJ, Koch W, Singh A and Hoque MO.
  TITLE     GULP1 regulates the NRF2-KEAP1 signaling axis in urothelial
            carcinoma
  JOURNAL   Sci Signal 13 (645) (2020)
   PUBMED   32817372
  REMARK    GeneRIF: GULP1 regulates the NRF2-KEAP1 signaling axis in
            urothelial carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 374)
  AUTHORS   Chau DD, Yung KW, Chan WW, An Y, Hao Y, Chan HE, Ngo JC and Lau KF.
  TITLE     Attenuation of amyloid-beta generation by atypical protein kinase
            C-mediated phosphorylation of engulfment adaptor PTB domain
            containing 1 threonine 35
  JOURNAL   FASEB J 33 (11), 12019-12035 (2019)
   PUBMED   31373844
  REMARK    GeneRIF: Results indicate that GULP, engulfment adaptor PTB domain
            containing 1 (GULP1) threonine 35 (T35) phosphorylation is a
            mechanism for the regulation of GULP1-amyloid beta precursor
            protein (APP) interaction and thereby APP processing.
REFERENCE   3  (residues 1 to 374)
  AUTHORS   Gong J, Gaitanos TN, Luu O, Huang Y, Gaitanos L, Lindner J,
            Winklbauer R and Klein R.
  TITLE     Gulp1 controls Eph/ephrin trogocytosis and is important for cell
            rearrangements during development
  JOURNAL   J Cell Biol 218 (10), 3455-3471 (2019)
   PUBMED   31409653
  REMARK    GeneRIF: the phagocytic adaptor protein Gulp1 regulates
            EphB/ephrinB trogocytosis to achieve efficient cell rearrangements
            of cultured cells and during embryonic development
REFERENCE   4  (residues 1 to 374)
  AUTHORS   Faralli JA, Desikan H, Peotter J, Kanneganti N, Weinhaus B, Filla
            MS and Peters DM.
  TITLE     Genomic/proteomic analyses of dexamethasone-treated human
            trabecular meshwork cells reveal a role for GULP1 and ABR in
            phagocytosis
  JOURNAL   Mol Vis 25, 237-254 (2019)
   PUBMED   31516309
  REMARK    GeneRIF: The knockdown of GULP1 and ABR using siRNAs decreased
            phagocytosis by 40%.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 374)
  AUTHORS   Maldonado L, Brait M, Izumchenko E, Begum S, Chatterjee A, Sen T,
            Loyo M, Barbosa A, Poeta ML, Makarev E, Zhavoronkov A, Fazio VM,
            Angioli R, Rabitti C, Ongenaert M, Van Criekinge W, Noordhuis MG,
            de Graeff P, Wisman GBA, van der Zee AGJ and Hoque MO.
  TITLE     Integrated transcriptomic and epigenomic analysis of ovarian cancer
            reveals epigenetically silenced GULP1
  JOURNAL   Cancer Lett 433, 242-251 (2018)
   PUBMED   29964205
  REMARK    GeneRIF: GULP1 methylation was associated with clinicopathological
            parameters such as stage III/IV, poorly differentiated grade,
            residual disease, worse overall and disease specific survival in
            ovarian cancer.
REFERENCE   6  (residues 1 to 374)
  AUTHORS   Park SY, Kang KB, Thapa N, Kim SY, Lee SJ and Kim IS.
  TITLE     Requirement of adaptor protein GULP during stabilin-2-mediated cell
            corpse engulfment
  JOURNAL   J Biol Chem 283 (16), 10593-10600 (2008)
   PUBMED   18230608
  REMARK    GeneRIF: GULP is a likely downstream molecule in the
            stabilin-2-mediated signaling pathway and plays an important role
            in stabilin-2-mediated phagocytosis
REFERENCE   7  (residues 1 to 374)
  AUTHORS   Fu GK, Wang JT, Yang J, Au-Young J and Stuve LL.
  TITLE     Circular rapid amplification of cDNA ends for high-throughput
            extension cloning of partial genes
  JOURNAL   Genomics 84 (1), 205-210 (2004)
   PUBMED   15203218
REFERENCE   8  (residues 1 to 374)
  AUTHORS   Su HP, Nakada-Tsukui K, Tosello-Trampont AC, Li Y, Bu G, Henson PM
            and Ravichandran KS.
  TITLE     Interaction of CED-6/GULP, an adapter protein involved in
            engulfment of apoptotic cells with CED-1 and CD91/low density
            lipoprotein receptor-related protein (LRP)
  JOURNAL   J Biol Chem 277 (14), 11772-11779 (2002)
   PUBMED   11729193
  REMARK    GeneRIF: Interaction of CED-6/GULP, an adapter protein involved in
            engulfment of apoptotic cells with CED-1 and CD91/low density
            lipoprotein receptor-related protein (LRP).
REFERENCE   9  (residues 1 to 374)
  AUTHORS   Liu QA and Hengartner MO.
  TITLE     Human CED-6 encodes a functional homologue of the Caenorhabditis
            elegans engulfment protein CED-6
  JOURNAL   Curr Biol 9 (22), 1347-1350 (1999)
   PUBMED   10574771
REFERENCE   10 (residues 1 to 374)
  AUTHORS   Smits E, Van Criekinge W, Plaetinck G and Bogaert T.
  TITLE     The human homologue of Caenorhabditis elegans CED-6 specifically
            promotes phagocytosis of apoptotic cells
  JOURNAL   Curr Biol 9 (22), 1351-1354 (1999)
   PUBMED   10574763
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104131.4, AC108493.6,
            AC125490.5 and AC092598.2.
            
            Summary: The protein encoded by this gene is an adapter protein
            necessary for the engulfment of apoptotic cells by phagocytes.
            Several transcript variants, some protein coding and some thought
            not to be protein coding, have been found for this gene. [provided
            by RefSeq, Nov 2011].
            
            Transcript Variant: This variant (20), as well as variants 19, 21,
            and 22, encodes isoform e.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1968540, SAMEA1968968
                              [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..374
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.1-q32.2"
     Protein         1..374
                     /product="PTB domain-containing engulfment adapter protein
                     1 isoform e"
                     /note="engulfment adapter protein; PTB domain adaptor
                     protein CED-6; PTB domain-containing engulfment adapter
                     protein 1; GULP, engulfment adaptor PTB domain containing
                     1; cell death protein 6 homolog; PTB domain adapter
                     protein CED-6"
                     /calculated_mol_wt=42345
     Region          14..157
                     /region_name="PTB_CED-6"
                     /note="Cell death protein 6 homolog (CED-6/GULP1)
                     Phosphotyrosine-binding (PTB) domain; cd01273"
                     /db_xref="CDD:269971"
     Site            order(30,109,129)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269971"
     Site            order(98..103,116,138,142)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269971"
     CDS             1..374
                     /gene="GULP1"
                     /gene_synonym="CED-6; CED6; GULP"
                     /coded_by="NM_001375941.1:612..1736"
                     /note="isoform e is encoded by transcript variant 20"
                     /db_xref="GeneID:51454"
                     /db_xref="HGNC:HGNC:18649"
                     /db_xref="MIM:608165"
ORIGIN      
        1 mnrafsrkkd ktwmhtpeal skhfipynak flgsteveqp kgtevvrdav rklkfarhik
       61 ksegqkipkv elqisiygvk ilepktkevq hncqlhrisf caddktdkri ftfickdses
      121 nkhlcyvfds ekcaeeitlt igqafdlayr kflesggkdv etrkqiaglq krssrssrcw
      181 iqdletenme lknkvqdlen qlritqvsap pllhnmsdhe qhvfqrcsss fwrsngdssp
      241 clnissisvt pinspdsrls lgllipppsk cgfpkpvses siprphagsm tpkspstdif
      301 dmipfspish qssmptrngt qpppvpsrst eikrdlfgae pfdpfncgaa dfppdiqskl
      361 demqrqrwrg skwd
//
LOCUS       NP_001248340            1003 aa            linear   PRI 27-DEC-2022
DEFINITION  splicing factor, suppressor of white-apricot homolog isoform 1
            [Homo sapiens].
ACCESSION   NP_001248340
VERSION     NP_001248340.1
DBSOURCE    REFSEQ: accession NM_001261411.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1003)
  AUTHORS   Crisci A, Raleff F, Bagdiul I, Raabe M, Urlaub H, Rain JC and
            Kramer A.
  TITLE     Mammalian splicing factor SF1 interacts with SURP domains of U2
            snRNP-associated proteins
  JOURNAL   Nucleic Acids Res 43 (21), 10456-10473 (2015)
   PUBMED   26420826
REFERENCE   2  (residues 1 to 1003)
  AUTHORS   Moayedi Y, Basch ML, Pacheco NL, Gao SS, Wang R, Harrison W, Xiao
            N, Oghalai JS, Overbeek PA, Mardon G and Groves AK.
  TITLE     The candidate splicing factor Sfswap regulates growth and
            patterning of inner ear sensory organs
  JOURNAL   PLoS Genet 10 (1), e1004055 (2014)
   PUBMED   24391519
REFERENCE   3  (residues 1 to 1003)
  AUTHORS   Brasch-Andersen C, Tan Q, Borglum AD, Haagerup A, Larsen TR, Vestbo
            J and Kruse TA.
  TITLE     Significant linkage to chromosome 12q24.32-q24.33 and
            identification of SFRS8 as a possible asthma susceptibility gene
  JOURNAL   Thorax 61 (10), 874-879 (2006)
   PUBMED   16738036
REFERENCE   4  (residues 1 to 1003)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   5  (residues 1 to 1003)
  AUTHORS   Sarkissian M, Winne A and Lafyatis R.
  TITLE     The mammalian homolog of suppressor-of-white-apricot regulates
            alternative mRNA splicing of CD45 exon 4 and fibronectin IIICS
  JOURNAL   J Biol Chem 271 (49), 31106-31114 (1996)
   PUBMED   8940107
REFERENCE   6  (residues 1 to 1003)
  AUTHORS   Denhez F and Lafyatis R.
  TITLE     Conservation of regulated alternative splicing and identification
            of functional domains in vertebrate homologs to the Drosophila
            splicing regulator, suppressor-of-white-apricot
  JOURNAL   J Biol Chem 269 (23), 16170-16179 (1994)
   PUBMED   8206918
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC117500.13 and AC131009.7.
            
            Summary: This gene encodes a human homolog of Drosophila splicing
            regulatory protein. This gene autoregulates its expression by
            control of splicing of its first two introns. In addition, it also
            regulates the splicing of fibronectin and CD45 genes. Two
            transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC144364.1, SRR14038193.221553.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1003
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     Protein         1..1003
                     /product="splicing factor, suppressor of white-apricot
                     homolog isoform 1"
                     /note="splicing factor, arginine/serine-rich 8
                     (suppressor-of-white-apricot, Drosophila homolog);
                     splicing factor SWAP homolog; splicing factor,
                     arginine/serine-rich 8 (suppressor-of-white-apricot
                     homolog, Drosophila); suppressor of white apricot protein
                     homolog; splicing factor, suppressor of white-apricot
                     family; splicing factor, suppressor of white-apricot
                     homolog"
                     /calculated_mol_wt=109881
     Region          35..155
                     /region_name="DRY_EERY"
                     /note="Alternative splicing regulator; pfam09750"
                     /db_xref="CDD:430801"
     Region          209..262
                     /region_name="SWAP"
                     /note="Suppressor-of-White-APricot splicing regulator;
                     smart00648"
                     /db_xref="CDD:197818"
     Region          457..508
                     /region_name="SWAP"
                     /note="Suppressor-of-White-APricot splicing regulator;
                     smart00648"
                     /db_xref="CDD:197818"
     Region          <637..718
                     /region_name="rpsP"
                     /note="30S ribosomal protein S16; Provisional; PRK14521"
                     /db_xref="CDD:237744"
     CDS             1..1003
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /coded_by="NM_001261411.2:141..3152"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS58290.1"
                     /db_xref="GeneID:6433"
                     /db_xref="HGNC:HGNC:10790"
                     /db_xref="MIM:601945"
ORIGIN      
        1 mygasggrak perksgakee agpggagggg srvellvfgy acklfrdder alaqeqgqhl
       61 ipwmgdhkil idrydgrghl hdlseydaey stwnrdyqls eeeariealc deerylalht
      121 dlleeearqe eeykrlseal aedgsynavg ftygsdyydp septeeeeps kqrekneaen
      181 leeneepfva plglsvpsdv elpptakmha iiertasfvc rqgaqfeiml kakqarnsqf
      241 dflrfdhyln pyykfiqkam kegrytvlae nksdekkksg vssdnedddd eedgnylhps
      301 lfaskkcnrl eelmkplkvv dpdhplaalv rkaqadsstp tphnadgapv qpsqveytad
      361 stvaamyysy ymlpdgtycl appppgidvt tyystlpagv tvsnspgvtt tappppgttp
      421 lpppttaets sgatsttttt salapvaaii ppppdvqpvi dklaeyvarn glkfetsvra
      481 kndqrfeflq pwhqynayye fkkqfflqke ggdsmqavsa peeaptdsap ekpsdagedg
      541 apedaaevga ragsggkkea sssktvpdgk lvkasfapis faikakendl lpleknrvkl
      601 dddsdddees kegqessssa antnpavapp cvvveekkpq ltqeeleakq akqkledrla
      661 aaareklaqa skeskekqlq aerkrkaalf lqtlknplpe aeagkieesp fsveessttp
      721 cplltggrpl ptlevkppdr psskskdppr eeekekkkkk hkkrsrtrsr spkyhsssks
      781 rsrshskakh slpsayrtvr rsrvtaspgt lraepcqssa svtaaaepgs yqaastttrf
      841 dsassfegkp gktsrsrsrs prrrahsper rreersvpta yrvsrspgas rkrtrsrsph
      901 ekkkkrrsrs rtkskarsqs vspskqaapr paapaahsah sasvspvesr gssqersrgv
      961 sqekeaqiss aivssvqski tqdlmakvra mlaasknlqt sas
//
LOCUS       NP_001317644             589 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger protein 131 isoform 2 [Homo sapiens].
ACCESSION   NP_001317644 XP_016865322
VERSION     NP_001317644.1
DBSOURCE    REFSEQ: accession NM_001330715.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 589)
  AUTHORS   Shen X, Zhu X, Hu P, Ji T, Qin Y and Zhu J.
  TITLE     Knockdown circZNF131 Inhibits Cell Progression and Glycolysis in
            Gastric Cancer Through miR-186-5p/PFKFB2 Axis
  JOURNAL   Biochem Genet 60 (5), 1567-1584 (2022)
   PUBMED   35059934
  REMARK    GeneRIF: Knockdown circZNF131 Inhibits Cell Progression and
            Glycolysis in Gastric Cancer Through miR-186-5p/PFKFB2 Axis.
REFERENCE   2  (residues 1 to 589)
  AUTHORS   Garipler G, Lu C, Morrissey A, Lopez-Zepeda LS, Pei Y, Vidal SE,
            Zen Petisco Fiore AP, Aydin B, Stadtfeld M, Ohler U, Mahony S,
            Sanjana NE and Mazzoni EO.
  TITLE     The BTB transcription factors ZBTB11 and ZFP131 maintain
            pluripotency by repressing pro-differentiation genes
  JOURNAL   Cell Rep 38 (11), 110524 (2022)
   PUBMED   35294876
  REMARK    GeneRIF: The BTB transcription factors ZBTB11 and ZFP131 maintain
            pluripotency by repressing pro-differentiation genes.
REFERENCE   3  (residues 1 to 589)
  AUTHORS   Ding Y, Herman JA, Toledo CM, Lang JM, Corrin P, Girard EJ, Basom
            R, Delrow JJ, Olson JM and Paddison PJ.
  TITLE     ZNF131 suppresses centrosome fragmentation in glioblastoma
            stem-like cells through regulation of HAUS5
  JOURNAL   Oncotarget 8 (30), 48545-48562 (2017)
   PUBMED   28596487
  REMARK    GeneRIF: Our results suggest that GSCs differentially rely on
            ZNF131-dependent expression of HAUS5 as well as the Augmin/HAUS
            complex activity to maintain the integrity of centrosome function
            and viability.
REFERENCE   4  (residues 1 to 589)
  AUTHORS   Varier RA, Carrillo de Santa Pau E, van der Groep P, Lindeboom RG,
            Matarese F, Mensinga A, Smits AH, Edupuganti RR, Baltissen MP,
            Jansen PW, Ter Hoeve N, van Weely DR, Poser I, van Diest PJ,
            Stunnenberg HG and Vermeulen M.
  TITLE     Recruitment of the Mammalian Histone-modifying EMSY Complex to
            Target Genes Is Regulated by ZNF131
  JOURNAL   J Biol Chem 291 (14), 7313-7324 (2016)
   PUBMED   26841866
  REMARK    GeneRIF: identify a novel substoichiometric interactor of the
            complex, transcription factor ZNF131, which recruits EMSY to a
            large number of active, H3K4me3 marked promoters.
REFERENCE   5  (residues 1 to 589)
  AUTHORS   Oh Y and Chung KC.
  TITLE     UHRF2, a ubiquitin E3 ligase, acts as a small ubiquitin-like
            modifier E3 ligase for zinc finger protein 131
  JOURNAL   J Biol Chem 288 (13), 9102-9111 (2013)
   PUBMED   23404503
  REMARK    GeneRIF: UHRF2, a ubiquitin E3 ligase, acts as a small
            ubiquitin-like modifier E3 ligase for zinc finger protein 131
REFERENCE   6  (residues 1 to 589)
  AUTHORS   Oh Y and Chung KC.
  TITLE     Small ubiquitin-like modifier (SUMO) modification of zinc finger
            protein 131 potentiates its negative effect on estrogen signaling
  JOURNAL   J Biol Chem 287 (21), 17517-17529 (2012)
   PUBMED   22467880
  REMARK    GeneRIF: SUMOylation is a novel regulator of ZNF131 action in
            estrogen signaling and breast cancer cell proliferation.
REFERENCE   7  (residues 1 to 589)
  AUTHORS   Han X, Guo J, Deng W, Zhang C, Du P, Shi T and Ma D.
  TITLE     High-throughput cell-based screening reveals a role for ZNF131 as a
            repressor of ERalpha signaling
  JOURNAL   BMC Genomics 9, 476 (2008)
   PUBMED   18847501
  REMARK    GeneRIF: Interaction between ZNF131 and ERalpha interrupts or
            prevents ERalpha binding to the estrogen response element. ZNF131
            also suppresses the expression of TFF1.
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 589)
  AUTHORS   Donaldson NS, Daniel Y, Kelly KF, Graham M and Daniel JM.
  TITLE     Nuclear trafficking of the POZ-ZF protein Znf131
  JOURNAL   Biochim Biophys Acta 1773 (4), 546-555 (2007)
   PUBMED   17306895
  REMARK    GeneRIF: The mechanism of Znf131 nuclear localization, is reported.
REFERENCE   9  (residues 1 to 589)
  AUTHORS   Trappe R, Buddenberg P, Uedelhoven J, Glaser B, Buck A, Engel W and
            Burfeind P.
  TITLE     The murine BTB/POZ zinc finger gene Znf131: predominant expression
            in the developing central nervous system, in adult brain, testis,
            and thymus
  JOURNAL   Biochem Biophys Res Commun 296 (2), 319-327 (2002)
   PUBMED   12163020
REFERENCE   10 (residues 1 to 589)
  AUTHORS   Tommerup N and Vissing H.
  TITLE     Isolation and fine mapping of 16 novel human zinc finger-encoding
            cDNAs identify putative candidate genes for developmental and
            malignant disorders
  JOURNAL   Genomics 27 (2), 259-264 (1995)
   PUBMED   7557990
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC106800.2.
            On Sep 1, 2016 this sequence version replaced XP_016865322.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.9744.1,
                                           SRR1660809.88320.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..589
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p12"
     Protein         1..589
                     /product="zinc finger protein 131 isoform 2"
                     /note="zinc finger protein 131 (clone pHZ-10); zinc finger
                     and BTB domain containing 35"
                     /calculated_mol_wt=67171
     Region          16..128
                     /region_name="BTB_POZ_ZBTB35_ZNF131"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in zinc finger
                     protein 131 (ZNF131); cd18221"
                     /db_xref="CDD:349530"
     Region          256..277
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(261,263,265,267..268,271..272,275,301,303,307..308,
                     311..312,315,329,331,333,335..336,339..340)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          296..316
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          308..333
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          324..341
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          360..380
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          388..405
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     CDS             1..589
                     /gene="ZNF131"
                     /gene_synonym="pHZ-10; ZBTB35"
                     /coded_by="NM_001330715.2:275..2044"
                     /note="isoform 2 is encoded by transcript variant 14"
                     /db_xref="CCDS:CCDS43313.1"
                     /db_xref="GeneID:7690"
                     /db_xref="HGNC:HGNC:12915"
                     /db_xref="MIM:604073"
ORIGIN      
        1 meaeetmecl qefpehhkmi ldrlneqreq drftditliv dghhfkahka vlaacskffy
       61 kffqeftqep lveiegvskm afrhliefty taklmiqgee eandvwkaae flqmleaika
      121 levrnkensa pleenttgkn eakkrkiaet snviteslps aesepveiev eiaegtieve
      181 degietleev asakqsvkyi qstgssddsa lalladitsk yrqgdrkgqi kedgcpsdpt
      241 skqehmkshs tesfkceicn krylresawk qhlncyhlee ggvskkqrtg kkihvcqyce
      301 kqfdhfghfk ehlrkhtgek pfecpncher farnstlkch ltacqtgvga kkgrkklyec
      361 qvcnsvfnsw dqfkdhlvih tgdkpnhctl cdlwfmqgne lrrhlsdahn iserlvteev
      421 lsvetrvqte pvtsmtiieq vgkvhvlpll qvqvdsaqvt veqvhpdllq dsqvhdshms
      481 elpeqvqvsy levgriqtee gtevhveelh vervnqmpve vqtelleadl dhvtpeimnq
      541 eeressqada aeaaredhed aedletkptv dseaekaene drtalpvle
//
LOCUS       NP_001336774             862 aa            linear   PRI 28-DEC-2022
DEFINITION  DNA topoisomerase 3-beta-1 isoform 1 [Homo sapiens].
ACCESSION   NP_001336774 XP_006724412
VERSION     NP_001336774.1
DBSOURCE    REFSEQ: accession NM_001349845.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 862)
  AUTHORS   Yang X, Saha S, Yang W, Neuman KC and Pommier Y.
  TITLE     Structural and biochemical basis for DNA and RNA catalysis by human
            Topoisomerase 3beta
  JOURNAL   Nat Commun 13 (1), 4656 (2022)
   PUBMED   35945419
  REMARK    GeneRIF: Structural and biochemical basis for DNA and RNA catalysis
            by human Topoisomerase 3beta.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 862)
  AUTHORS   Su S, Xue Y, Sharov A, Zhang Y, Lee SK, Martindale JL, Li W, Ku WL,
            Zhao K, De S, Shen W, Sen P, Gorospe M, Xu D and Wang W.
  TITLE     A dual-activity topoisomerase complex regulates mRNA translation
            and turnover
  JOURNAL   Nucleic Acids Res 50 (12), 7013-7033 (2022)
   PUBMED   35748872
  REMARK    GeneRIF: A dual-activity topoisomerase complex regulates mRNA
            translation and turnover.
REFERENCE   3  (residues 1 to 862)
  AUTHORS   Saha S, Sun Y, Huang SN, Baechler SA, Pongor LS, Agama K, Jo U,
            Zhang H, Tse-Dinh YC and Pommier Y.
  TITLE     DNA and RNA Cleavage Complexes and Repair Pathway for TOP3B RNA-
            and DNA-Protein Crosslinks
  JOURNAL   Cell Rep 33 (13), 108569 (2020)
   PUBMED   33378676
  REMARK    GeneRIF: DNA and RNA Cleavage Complexes and Repair Pathway for
            TOP3B RNA- and DNA-Protein Crosslinks.
REFERENCE   4  (residues 1 to 862)
  AUTHORS   Prasanth KR, Hirano M, Fagg WS, McAnarney ET, Shan C, Xie X, Hage
            A, Pietzsch CA, Bukreyev A, Rajsbaum R, Shi PY, Bedford MT,
            Bradrick SS, Menachery V and Garcia-Blanco MA.
  TITLE     Topoisomerase III-beta is required for efficient replication of
            positive-sense RNA viruses
  JOURNAL   Antiviral Res 182, 104874 (2020)
   PUBMED   32735900
  REMARK    GeneRIF: Topoisomerase III-beta is required for efficient
            replication of positive-sense RNA viruses.
REFERENCE   5  (residues 1 to 862)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   6  (residues 1 to 862)
  AUTHORS   Oliveira-Costa JP, Zanetti J, Oliveira LR, Soares FA, Ramalho LZ,
            Silva Ramalho F, Garcia SB and Ribeiro-Silva A.
  TITLE     Significance of topoisomerase IIIbeta expression in breast ductal
            carcinomas: strong associations with disease-specific survival and
            metastasis
  JOURNAL   Hum Pathol 41 (11), 1624-1630 (2010)
   PUBMED   20950730
  REMARK    GeneRIF: Topoisomerase IIIbeta expression can be a useful marker in
            assessing the prognosis of patients with breast cancer and is an
            independent predictor of survival.
            Erratum:[Hum Pathol. 2012 Apr;43(4):618]
REFERENCE   7  (residues 1 to 862)
  AUTHORS   Cho YH, Park JY, Han SY and Chung IK.
  TITLE     Identification of the functional elements in the promoter region of
            human DNA topoisomerase IIIbeta gene
  JOURNAL   Biochim Biophys Acta 1679 (3), 272-278 (2004)
   PUBMED   15358519
  REMARK    GeneRIF: the positive regulatory region including the 5'GGAACC3'
            core element is essential for efficient expression of the DNA
            topoisomerase III beta gene
REFERENCE   8  (residues 1 to 862)
  AUTHORS   Kobayashi M and Hanai R.
  TITLE     M phase-specific association of human topoisomerase IIIbeta with
            chromosomes
  JOURNAL   Biochem Biophys Res Commun 287 (1), 282-287 (2001)
   PUBMED   11549288
  REMARK    GeneRIF: Two isoforms of human DNA topoisomerase IIIbeta were
            expressed in HeLa cells. Isoform 1 was localized to the nucleus and
            associated with chromosomes during metaphase and anaphase. Isoform
            2 was found in the cytoplasm.
REFERENCE   9  (residues 1 to 862)
  AUTHORS   Shimamoto A, Nishikawa K, Kitao S and Furuichi Y.
  TITLE     Human RecQ5beta, a large isomer of RecQ5 DNA helicase, localizes in
            the nucleoplasm and interacts with topoisomerases 3alpha and 3beta
  JOURNAL   Nucleic Acids Res 28 (7), 1647-1655 (2000)
   PUBMED   10710432
REFERENCE   10 (residues 1 to 862)
  AUTHORS   Ng SW, Liu Y, Hasselblatt KT, Mok SC and Berkowitz RS.
  TITLE     A new human topoisomerase III that interacts with SGS1 protein
  JOURNAL   Nucleic Acids Res 27 (4), 993-1000 (1999)
   PUBMED   9927731
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA025312.1, DA124773.1,
            AK290997.1, AC245452.3 and BQ270362.1.
            On Mar 28, 2017 this sequence version replaced XP_006724412.1.
            
            Summary: This gene encodes a DNA topoisomerase, an enzyme that
            controls and alters the topologic states of DNA during
            transcription. This enzyme catalyzes the transient breaking and
            rejoining of a single strand of DNA which allows the strands to
            pass through one another, thus relaxing the supercoils and altering
            the topology of DNA. The enzyme interacts with DNA helicase SGS1
            and plays a role in DNA recombination, cellular aging and
            maintenance of genome stability. Low expression of this gene may be
            related to higher survival rates in breast cancer patients. This
            gene has a pseudogene on chromosome 22. Alternate splicing results
            in multiple transcript variants. Additional alternatively spliced
            transcript variants of this gene have been described, but their
            full-length nature is not known. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. Variants 1-5 encode the same protein (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.164863.1,
                                           SRR1803613.14211.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158188 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..862
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.22"
     Protein         1..862
                     /product="DNA topoisomerase 3-beta-1 isoform 1"
                     /EC_number="5.6.2.1"
                     /note="topoisomerase III beta; DNA topoisomerase 3-beta-1;
                     topoisomerase (DNA) III beta; DNA topoisomerase III
                     beta-1"
                     /calculated_mol_wt=96531
     Region          3..167
                     /region_name="TOPRIM_TopoIA_TopoIII"
                     /note="The topoisomerase-primase (TORPIM) domain found in
                     members of the type IA family of DNA topoisomerases (Topo
                     IA) similar to topoisomerase III. Type IA DNA
                     topoisomerases remove (relax) negative supercoils in the
                     DNA by: cleaving one strand of the DNA...; cd03362"
                     /db_xref="CDD:173782"
     Site            order(9..10,13,117,119,121)
                     /site_type="active"
                     /db_xref="CDD:173782"
     Site            order(16,118,120,127..128,130..131)
                     /site_type="other"
                     /note="putative interdomain interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:173782"
     Site            order(117,119)
                     /site_type="other"
                     /note="putative metal-binding site [ion binding]"
                     /db_xref="CDD:173782"
     Site            120
                     /site_type="other"
                     /note="putative nucleotide binding site [chemical
                     binding]"
                     /db_xref="CDD:173782"
     Region          172..593
                     /region_name="TOP1Ac"
                     /note="DNA Topoisomerase, subtype IA; DNA-binding,
                     ATP-binding and catalytic domain of bacterial DNA
                     topoisomerases I and III, and eukaryotic DNA topoisomerase
                     III and eubacterial and archael reverse gyrases.
                     Topoisomerases clevage single or double stranded DNA...;
                     cd00186"
                     /db_xref="CDD:238110"
     Site            order(172..199,212..232)
                     /site_type="active"
                     /note="domain I [active]"
                     /db_xref="CDD:238110"
     Site            order(181..182,185,189,193,326,330,338,512..513,516..517,
                     519,523..524)
                     /site_type="DNA binding"
                     /note="DNA binding groove [nucleotide binding]"
                     /db_xref="CDD:238110"
     Site            order(223,227,549)
                     /site_type="other"
                     /note="phosphate binding site [ion binding]"
                     /db_xref="CDD:238110"
     Site            order(237..244,282..296,422..436,438..456,479..489)
                     /site_type="active"
                     /note="domain II [active]"
                     /db_xref="CDD:238110"
     Site            order(297..303,305..360,386..394,401..421)
                     /site_type="active"
                     /note="domain III [active]"
                     /db_xref="CDD:238110"
     Site            order(308,312..314,387,407,410,414,510,512,535)
                     /site_type="other"
                     /note="nucleotide binding site [chemical binding]"
                     /db_xref="CDD:238110"
     Site            order(336,338,387)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:238110"
     Site            order(490..530,535..549,555..593)
                     /site_type="active"
                     /note="domain IV [active]"
                     /db_xref="CDD:238110"
     Region          821..854
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95985.1)"
     CDS             1..862
                     /gene="TOP3B"
                     /gene_synonym="TOP3B1"
                     /coded_by="NM_001349845.2:193..2781"
                     /note="isoform 1 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS13797.1"
                     /db_xref="GeneID:8940"
                     /db_xref="HGNC:HGNC:11993"
                     /db_xref="MIM:603582"
ORIGIN      
        1 mktvlmvaek pslaqsiaki lsrgslsshk glngacsvhe ytgtfagqpv rfkmtsvcgh
       61 vmtldflgky nkwdkvdpae lfsqaptekk eanpklnmvk flqvegrgcd yivlwldcdk
      121 egenicfevl davlpvmnka hggektvfra rfssitdtdi cnamaclgep dhnealsvda
      181 rqeldlrigc aftrfqtkyf qgkygdldss lisfgpcqtp tlgfcverhd kiqsfkpety
      241 wvlqakvntd kdrsllldwd rvrvfdreia qmflnmtkle keaqveatsr kekakqrpla
      301 lntvemlrva ssslgmgpqh amqtaerlyt qgyisyprte tthypenfdl kgslrqqanh
      361 pywadtvkrl laeginrprk ghdagdhppi tpmksateae lggdawrlye yitrhfiatv
      421 shdckylqst isfrigpelf tcsgktvlsp gftevmpwqs vpleeslptc qrgdafpvge
      481 vkmlekqtnp pdylteaeli tlmekhgigt dasipvhinn icqrnyvtve sgrrlkptnl
      541 givlvhgyyk idaelvlpti rsavekqlnl iaqgkadyrq vlghtldvfk rkfhyfvdsi
      601 agmdelmevs fsplaatgkp lsrcgkchrf mkyiqakpsr lhcshcdety tlpqngtikl
      661 ykelrcpldd felvlwssgs rgksyplcpy cynhppfrdm kkgmgcnect hpscqhslsm
      721 lgigqcvece sgvlvldpts gpkwkvacnk cnvvahcfen ahrvrvsadt csvceaalld
      781 vdfnkakspl pgdetqhmgc vfcdpvfqel velkhaasch pmhrggpgrr qgrgrgrarr
      841 ppgkpnprrp kdkmsalaay fv
//
LOCUS       NP_001371751            2170 aa            linear   PRI 28-DEC-2022
DEFINITION  protein PRRC2B isoform 3 [Homo sapiens].
ACCESSION   NP_001371751
VERSION     NP_001371751.1
DBSOURCE    REFSEQ: accession NM_001384822.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2170)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 2170)
  AUTHORS   Zhang XO, Dong R, Zhang Y, Zhang JL, Luo Z, Zhang J, Chen LL and
            Yang L.
  TITLE     Diverse alternative back-splicing and alternative splicing
            landscape of circular RNAs
  JOURNAL   Genome Res 26 (9), 1277-1287 (2016)
   PUBMED   27365365
REFERENCE   3  (residues 1 to 2170)
  AUTHORS   Lambert B, Vandeputte J, Remacle S, Bergiers I, Simonis N, Twizere
            JC, Vidal M and Rezsohazy R.
  TITLE     Protein interactions of the transcription factor Hoxa1
  JOURNAL   BMC Dev Biol 12, 29 (2012)
   PUBMED   23088713
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 2170)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   5  (residues 1 to 2170)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   6  (residues 1 to 2170)
  AUTHORS   Vasilescu J, Zweitzig DR, Denis NJ, Smith JC, Ethier M, Haines DS
            and Figeys D.
  TITLE     The proteomic reactor facilitates the analysis of affinity-purified
            proteins by mass spectrometry: application for identifying
            ubiquitinated proteins in human cells
  JOURNAL   J Proteome Res 6 (1), 298-305 (2007)
   PUBMED   17203973
REFERENCE   7  (residues 1 to 2170)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   8  (residues 1 to 2170)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   9  (residues 1 to 2170)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL354855.26 and AL358781.19.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2154125,
                              SAMEA2159912 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2170
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13"
     Protein         1..2170
                     /product="protein PRRC2B isoform 3"
                     /note="protein BAT2-like 1; protein PRRC2B;
                     HLA-B-associated transcript 2-like 1; proline-rich
                     coiled-coil protein 2B; HLA-B associated transcript
                     2-like"
                     /calculated_mol_wt=237063
     Region          1..189
                     /region_name="BAT2_N"
                     /note="BAT2 N-terminus; pfam07001"
                     /db_xref="CDD:429240"
     Region          49..269
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            166
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            168
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            222
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7TPM1; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            226
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            228
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Region          385..640
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            388
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18318008, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            416
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            480
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            556
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            613
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            736
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            740
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            745
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            765
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            776
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Region          830..1045
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Region          1107..1528
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            1132
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            1231
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            1470
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            1507
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Region          1576..1599
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            1753
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Region          1789..1808
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            1842
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Region          1860..1889
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Region          1869..>2125
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     Region          2085..2125
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     CDS             1..2170
                     /gene="PRRC2B"
                     /gene_synonym="BAT2L; BAT2L1; KIAA0515; LQFBS-1"
                     /coded_by="NM_001384822.1:133..6645"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="GeneID:84726"
                     /db_xref="HGNC:HGNC:28121"
                     /db_xref="MIM:619544"
ORIGIN      
        1 msdrlgqitk gkdgkskyst lslfdkykgk svdairssvi prhglqslgk vaaarrmppp
       61 anlpslksen kgndpniviv pkdgtgwank qdqqdpksss atasqppesl pqpglqksvs
      121 nlqkptqsis qentnsvpgg pkswaqlngk pvghegglrg ssrllsfspe efptlkaagg
      181 qdkagkekgv ldlsygpgps lrpqnvtswr egggrhiisa tslstsptel gsrnsstgdg
      241 apssactsds kdpslrpaqp vrkgasqfmg nvyhpptyhd mlpafmcspk ssenqgtver
      301 gsfplpqlrl eprvpfrqfq mndqdgkenr lglsrplrpl rqlveraprp tiinaenlkg
      361 lddldadadd gwaglheevd yseklkfsdd eeeeevvkdg rpkwnswdpr rqrqlsmssa
      421 dsadakrtre egkdwaeavg asrvvrkapd pqppprklhg wapgpdyqks smgsmfrqqs
      481 iedkedkppp rqkfiqsems eaverarkrr eeeerraree rlaacaaklk qldqkckqar
      541 kagearkqae kevpwspsae kaspqengpa vhkgspefpa qetpttfpee aptvspavaq
      601 snsseeeare agspaqefky qkslpprfqr qqqqqqqeql ykmqhwqpvy pppshpqrtf
      661 yphhpqmlgf dprwmmmpsy mdpritptrt pvdfypsalh psglmkpmmp qeslngtgcr
      721 sedqncvppl qerkvtpids ppvwspegym alqskgyplp hpkssdtlam dmrvrnessf
      781 saslgraggv saqrdlfeer geeylsafdk kaqadfdsci ssqrigqell fppqenvqda
      841 gapgghtqnl rcsplepdfv pdekkpecgs wdvshqpeta dtahgveret pregtafnis
      901 swdkngspnk qpssepewtp eprssssqhp eqtgrtrrsg pikkpvlkal kvedkekele
      961 kikqelgees trlakekeqs ptaekdedee ndaslansst ttledkgpgh atfgreatkf
     1021 eeeekpdkaw earppressd vppmkrnnwi fideeqafgv rgqargrgrg freftfrgrp
     1081 aggngsglcg ggvlgarsiy cssqrsgrgr glrefarped cprakprrrv asethsegse
     1141 yeelpkrrrq rgsengnegs llereestlk kgdcrdswrs nkgcsedhsg ldaksrgpra
     1201 fgralpprls ncgygrrtfv skesphwqsk spgsswqeyg psdtcgsrrp tdrdyvpdsy
     1261 rhpdafggrg fedsraedkr sffqdehvad senaenrpfr rrrpprqdkp prfrrlrqer
     1321 eslglwgpee ephllagqwp grpklcsgdk sgtvgrrspe lsyqnssdha neewetases
     1381 sdfserrerr egpgsepdsq vdgglsgasl gekkelakrs fssqrpvvdr qsrklepggf
     1441 gekpvrpggg dtspryesqq ngtplkvkrs pdealpggls gcssgsghsp yaleraahas
     1501 adlpeasskk aekeaklaap rageqgeamk qfdlnygsai iencgsspge esevgsmvge
     1561 gfievltkkq rrlleeerrk keqavqvpvk grglssripp rfakkqnnlc leqgdvtvpg
     1621 sslgteiwes ssqalpvqap andswrkavt afsstetgsa egfkssqgds gvdlsaesre
     1681 ssatssqrss pygtlkpeem sgpglaepka dshkeqapkp seqkdseqgs gqskehrpgp
     1741 ignerslknr kgsegaerlq gavvppvngv eihvdsvlpv ppiefgvspk dsdfslppgs
     1801 asgptgspvv klqdalasna gltqsipilr rdhhiqraig lspmsfptad ltlkmesark
     1861 awenspslpe qsspggagsg iqppssvgas sgvnyssfgg vsmppmpvas vapsasmpgs
     1921 hlpplyldgh vfasqprlvp qtipqqqsyq qaaaaqqipi slhtslqaqa qlglrgglpv
     1981 sqsqeifssl qpfrsqvymh pslsppstmi lsggtalkpp ysafpgmqpl emvkpqsgsp
     2041 yqpmsgnqal vyegqlsqaa glgasqmlds qlpqltmplp rygsgqqpli lpqsiqlppg
     2101 qslsvgaprr ipppgsqppv lntsrepsqm emkgfhfads kqnvpsggpv pspqtyrqnn
     2161 ewmrnpawep
//
LOCUS       NP_001316538             111 aa            linear   PRI 29-DEC-2022
DEFINITION  ADP-ribosylation factor-like protein 16 isoform 3 [Homo sapiens].
ACCESSION   NP_001316538
VERSION     NP_001316538.1
DBSOURCE    REFSEQ: accession NM_001329609.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 111)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 111)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 111)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 111)
  AUTHORS   Yang YK, Qu H, Gao D, Di W, Chen HW, Guo X, Zhai ZH and Chen DY.
  TITLE     ARF-like protein 16 (ARL16) inhibits RIG-I by binding with its
            C-terminal domain in a GTP-dependent manner
  JOURNAL   J Biol Chem 286 (12), 10568-10580 (2011)
   PUBMED   21233210
  REMARK    GeneRIF: ARF-like protein 16 (ARL16) inhibits RIG-I by binding with
            its C-terminal domain in a GTP-dependent manner
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139530.3, CN359525.1,
            BE746724.1 and AI149177.1.
            
            Summary: The protein encoded by this gene belongs to the ARL
            (ADP-ribosylation factor-like) family of proteins, which are
            structurally related to ADP-ribosylation factors (ARFs). This
            protein has been shown to have an inhibitory role in the cellular
            antiviral response. This gene product interacts with the C-terminal
            domain of the DEXD/H-box helicase 58 (DDX58) gene product. This
            interaction was found to suppress the association between the DDX58
            gene product and RNA, thereby negatively regulating the activity of
            the DDX58 gene product. [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            lacks a portion of the 5' coding region, compared to variant 1.
            These differences cause translation initiation at a downstream
            start codon and result in an isoform (3) with a shorter N-terminus,
            compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.2177389.1, CN359525.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..111
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..111
                     /product="ADP-ribosylation factor-like protein 16 isoform
                     3"
                     /note="ADP-ribosylation factor-like protein 16"
                     /calculated_mol_wt=11906
     Region          <3..104
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            53..56
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206648"
     Site            89..91
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206648"
     CDS             1..111
                     /gene="ARL16"
                     /coded_by="NM_001329609.2:238..573"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS86652.1"
                     /db_xref="GeneID:339231"
                     /db_xref="HGNC:HGNC:27902"
                     /db_xref="MIM:619117"
ORIGIN      
        1 mgpiwssyyg ncrsllfvmd asdptqlsas cvqllgllsa eqlaeasvli lfnkidlpcy
       61 msteemksli rlpdiiacak qnittaeisa regtglagvl awlqathran d
//
LOCUS       NP_001291731             470 aa            linear   PRI 29-DEC-2022
DEFINITION  regulator of microtubule dynamics protein 3 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001291731
VERSION     NP_001291731.1
DBSOURCE    REFSEQ: accession NM_001304802.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 470)
  AUTHORS   He M, Wang X, Chen W, Zhang J, Xiong Y, Cao L, Zhang L, Zhao N,
            Yang Y and Wang L.
  TITLE     PTPIP51 inhibits non-small-cell lung cancer by promoting
            PTEN-mediated EGFR degradation
  JOURNAL   Life Sci 297, 120293 (2022)
   PUBMED   35240162
  REMARK    GeneRIF: PTPIP51 inhibits non-small-cell lung cancer by promoting
            PTEN-mediated EGFR degradation.
REFERENCE   2  (residues 1 to 470)
  AUTHORS   Yeo HK, Park TH, Kim HY, Jang H, Lee J, Hwang GS, Ryu SE, Park SH,
            Song HK, Ban HS, Yoon HJ and Lee BI.
  TITLE     Phospholipid transfer function of PTPIP51 at
            mitochondria-associated ER membranes
  JOURNAL   EMBO Rep 22 (6), e51323 (2021)
   PUBMED   33938112
  REMARK    GeneRIF: Phospholipid transfer function of PTPIP51 at
            mitochondria-associated ER membranes.
REFERENCE   3  (residues 1 to 470)
  AUTHORS   Lau DHW, Paillusson S, Hartopp N, Rupawala H, Morotz GM,
            Gomez-Suaga P, Greig J, Troakes C, Noble W and Miller CCJ.
  TITLE     Disruption of endoplasmic reticulum-mitochondria tethering proteins
            in post-mortem Alzheimer's disease brain
  JOURNAL   Neurobiol Dis 143, 105020 (2020)
   PUBMED   32682953
  REMARK    GeneRIF: Disruption of endoplasmic reticulum-mitochondria tethering
            proteins in post-mortem Alzheimer's disease brain.
REFERENCE   4  (residues 1 to 470)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 470)
  AUTHORS   Di Mattia T, Wilhelm LP, Ikhlef S, Wendling C, Spehner D, Nomine Y,
            Giordano F, Mathelin C, Drin G, Tomasetto C and Alpy F.
  TITLE     Identification of MOSPD2, a novel scaffold for endoplasmic
            reticulum membrane contact sites
  JOURNAL   EMBO Rep 19 (7) (2018)
   PUBMED   29858488
REFERENCE   6  (residues 1 to 470)
  AUTHORS   Oishi K, Okano H and Sawa H.
  TITLE     RMD-1, a novel microtubule-associated protein, functions in
            chromosome segregation in Caenorhabditis elegans
  JOURNAL   J Cell Biol 179 (6), 1149-1162 (2007)
   PUBMED   18070910
  REMARK    Erratum:[J Cell Biol. 2009 Aug 24;186(4):629]
REFERENCE   7  (residues 1 to 470)
  AUTHORS   Lv BF, Yu CF, Chen YY, Lu Y, Guo JH, Song QS, Ma DL, Shi TP and
            Wang L.
  TITLE     Protein tyrosine phosphatase interacting protein 51 (PTPIP51) is a
            novel mitochondria protein with an N-terminal mitochondrial
            targeting sequence and induces apoptosis
  JOURNAL   Apoptosis 11 (9), 1489-1501 (2006)
   PUBMED   16820967
  REMARK    GeneRIF: PTPIP51 is a mitochondrial protein with apoptosis-inducing
            function and that the N-terminal TM domain is required for both the
            correct targeting of the protein to mitochondria and its apoptotic
            functions.
REFERENCE   8  (residues 1 to 470)
  AUTHORS   Stenzinger A, Kajosch T, Tag C, Porsche A, Welte I, Hofer HW,
            Steger K and Wimmer M.
  TITLE     The novel protein PTPIP51 exhibits tissue- and cell-specific
            expression
  JOURNAL   Histochem Cell Biol 123 (1), 19-28 (2005)
   PUBMED   15609043
  REMARK    GeneRIF: PTPIP51 might be involved in the regulation of cellular
            processes associated with differentiation, movement, or
            cytoskeletal organization
REFERENCE   9  (residues 1 to 470)
  AUTHORS   Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S,
            Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett
            JR, Langeberg LK, Scott JD and Pawson T.
  TITLE     Proteomic, functional, and domain-based analysis of in vivo 14-3-3
            binding proteins involved in cytoskeletal regulation and cellular
            organization
  JOURNAL   Curr Biol 14 (16), 1436-1450 (2004)
   PUBMED   15324660
REFERENCE   10 (residues 1 to 470)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA280017.1, AK092058.1 and AA772280.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1505325.1, AK092058.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..470
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     Protein         1..470
                     /product="regulator of microtubule dynamics protein 3
                     isoform 1"
                     /note="family with sequence similarity 82, member C;
                     microtubule-associated protein; family with sequence
                     similarity 82, member A2; regulator of microtubule
                     dynamics protein 3; cerebral protein 10; TCPTP-interacting
                     protein 51; protein tyrosine phosphatase-interacting
                     protein 51"
                     /calculated_mol_wt=51987
     Site            13..35
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96TC7.2)"
     Site            44
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96TC7.2)"
     Site            46
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96TC7.2)"
     Site            50
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96TC7.2)"
     Site            57
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UJU9; propagated from
                     UniProtKB/Swiss-Prot (Q96TC7.2)"
     Region          157..172
                     /region_name="FFAT. /evidence=ECO:0000269|PubMed:29858488"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96TC7.2)"
     Region          168..231
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96TC7.2)"
     Site            183
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96TC7.2)"
     Site            193
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96TC7.2)"
     Site            212
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96TC7.2)"
     Site            232
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96TC7.2)"
     Region          362..412
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          417..446
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..470
                     /gene="RMDN3"
                     /gene_synonym="FAM82A2; FAM82C; ptpip51; RMD-3; RMD3"
                     /coded_by="NM_001304802.2:150..1562"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS10063.1"
                     /db_xref="GeneID:55177"
                     /db_xref="HGNC:HGNC:25550"
                     /db_xref="MIM:611873"
ORIGIN      
        1 msrlgalgga raglglllgt aaglgflcll ysqrwkrtqr hgrsqslpns ldytqtsdpg
       61 rhvmllravp ggagdasvlp slpregqekv ldrldfvlts lvalrrevee lrsslrglag
      121 eivgevrchm eenqrvarrr rfpfvrersd stgsssvyft assgatftda eseggyttan
      181 aesdnerdsd kesedgedev scetvkmgrk dsldleeeaa sgassaleag gssgledvlp
      241 llqqadelhr gdeqgkregf qlllnnklvy gsrqdflwrl araysdmcel teevsekksy
      301 aldgkeeaea alekgdesad chlwyavlcg qlaehesiqr riqsgfsfke hvdkaialqp
      361 enpmahfllg rwcyqvshls wlekktatal lesplsatve dalqsflkae elqpgfskag
      421 rvyiskcyre lgknsearww mklalelpdv tkedlaiqkd leelevilrd
//
LOCUS       NP_001073004             291 aa            linear   PRI 30-DEC-2022
DEFINITION  ecto-ADP-ribosyltransferase 5 isoform a precursor [Homo sapiens].
ACCESSION   NP_001073004
VERSION     NP_001073004.1
DBSOURCE    REFSEQ: accession NM_001079536.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 291)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   2  (residues 1 to 291)
  AUTHORS   Glowacki G, Braren R, Firner K, Nissen M, Kuhl M, Reche P, Bazan F,
            Cetkovic-Cvrlje M, Leiter E, Haag F and Koch-Nolte F.
  TITLE     The family of toxin-related ecto-ADP-ribosyltransferases in humans
            and the mouse
  JOURNAL   Protein Sci 11 (7), 1657-1670 (2002)
   PUBMED   12070318
REFERENCE   3  (residues 1 to 291)
  AUTHORS   Glowacki G, Braren R, Cetkovic-Cvrlje M, Leiter EH, Haag F and
            Koch-Nolte F.
  TITLE     Structure, chromosomal localization, and expression of the gene for
            mouse ecto-mono(ADP-ribosyl)transferase ART5
  JOURNAL   Gene 275 (2), 267-277 (2001)
   PUBMED   11587854
REFERENCE   4  (residues 1 to 291)
  AUTHORS   Okazaki IJ and Moss J.
  TITLE     Characterization of glycosylphosphatidylinositiol-anchored,
            secreted, and intracellular vertebrate mono-ADP-ribosyltransferases
  JOURNAL   Annu Rev Nutr 19, 485-509 (1999)
   PUBMED   10448534
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC060812.15, Y16835.1,
            CD557970.1 and AW241897.1.
            
            Summary: The protein encoded by this gene belongs to the
            ARG-specific ADP-ribosyltransferase family. Proteins in this family
            regulate the function of target proteins by attaching ADP-ribose to
            specific amino acid residues in their target proteins. The mouse
            homolog lacks a glycosylphosphatidylinositol-anchor signal sequence
            and is predicted to be a secretory enzyme. Several transcripts
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (2) contains a different 5' UTR
            compared to transcript variant 1. Variants 1 and 2 both encode the
            same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: Y16835.1, ERR279845.6487.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..291
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..291
                     /product="ecto-ADP-ribosyltransferase 5 isoform a
                     precursor"
                     /EC_number="2.4.2.31"
                     /note="mono(ADP-ribosyl)transferase 5; NAD(P)(+)--arginine
                     ADP-ribosyltransferase 5; ADP-ribosyltransferase C2 and C3
                     toxin-like 5; ecto-ADP-ribosyltransferase 5"
                     /calculated_mol_wt=29804
     sig_peptide     1..22
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2268
     mat_peptide     23..291
                     /product="ecto-ADP-ribosyltransferase 5 isoform a"
                     /calculated_mol_wt=29804
     Region          28..254
                     /region_name="ART"
                     /note="NAD:arginine ADP-ribosyltransferase; pfam01129"
                     /db_xref="CDD:279473"
     Site            101
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96L15.4)"
     Site            196
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96L15.4)"
     Site            250
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96L15.4)"
     CDS             1..291
                     /gene="ART5"
                     /gene_synonym="ARTC5"
                     /coded_by="NM_001079536.2:205..1080"
                     /note="isoform a precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS7743.1"
                     /db_xref="GeneID:116969"
                     /db_xref="HGNC:HGNC:24049"
                     /db_xref="MIM:610625"
ORIGIN      
        1 malaalmial gslglhtwqa qavpilplgl apdtfddtyv gcaeemeeka apllkeemah
       61 hallreswea aqetwedkrr gltlppgfka qngiaimvyt nssntlywel nqavrtgggs
      121 relymrhfpf kalhfylira lqllrgsggc srgpgevvfr gvgslrfepk rlgdsvrlgq
      181 fasssldkav ahrfgnatlf slttcfgapi qafsvfpker evlipphevf lvtrfsqdga
      241 qslvtlwsyn qtcshfncay lggekrrgcv sapgalgtgd lhmtkrhlqq p
//
LOCUS       NP_001374526             475 aa            linear   PRI 30-DEC-2022
DEFINITION  zinc finger protein 383 [Homo sapiens].
ACCESSION   NP_001374526 XP_011524888
VERSION     NP_001374526.1
DBSOURCE    REFSEQ: accession NM_001387597.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 475)
  AUTHORS   Liang Y, Zhang X, Geng W, Wang Y, Ding Y, Song Q, Yuan Y, Zhao C,
            Tian Z, Wang J and Tian C.
  TITLE     19q13.12 KRAB zinc-finger protein ZNF383 represses p53 signaling
            pathway by interacting with p53
  JOURNAL   Cell Signal 98, 110405 (2022)
   PUBMED   35835334
  REMARK    GeneRIF: 19q13.12 KRAB zinc-finger protein ZNF383 represses p53
            signaling pathway by interacting with p53.
REFERENCE   2  (residues 1 to 475)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 475)
  AUTHORS   Cao L, Wang Z, Zhu C, Zhao Y, Yuan W, Li J, Wang Y, Ying Z, Li Y,
            Yu W, Wu X and Liu M.
  TITLE     ZNF383, a novel KRAB-containing zinc finger protein, suppresses
            MAPK signaling pathway
  JOURNAL   Biochem Biophys Res Commun 333 (4), 1050-1059 (2005)
   PUBMED   15964543
  REMARK    GeneRIF: Overexpression of ZNF383 in cells inhibits the
            transcriptional activities of AP-1 and SRE, suggesting that ZNF383
            may act as a negative regulator in MAPK-mediated signaling
            pathways.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012309.8, AC016590.7 and
            KC877738.1.
            On Oct 9, 2020 this sequence version replaced XP_011524888.1.
            
            Summary: The protein encoded by this gene is a KRAB-related zinc
            finger protein that inhibits the transcription of some MAPK
            signaling pathway genes. The repressor activity resides in the KRAB
            domain of the encoded protein. [provided by RefSeq, Sep 2016].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.225557.1,
                                           SRR14038194.3997315.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161674, SAMEA2467150
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..475
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     Protein         1..475
                     /product="zinc finger protein 383"
                     /calculated_mol_wt=54482
     Region          6..66
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          170..192
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          172..192
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(172,175,188,192)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          187..209
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          200..220
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(200,203,216,220)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          212..237
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          228..248
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(228,231,244,248)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          <231..475
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          256..276
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(256,259,272,276)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          284..304
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(284,287,300,304)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          312..332
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(312,315,328,332)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(317,319,321,323..324,327..328,331,345,347,351..352,
                     355..356,359,373,375,377,379..380,383..384,387)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          340..360
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          368..388
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          396..416
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          424..444
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          452..472
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..475
                     /gene="ZNF383"
                     /gene_synonym="HSD17; Zfp383"
                     /coded_by="NM_001387597.1:1596..3023"
                     /db_xref="CCDS:CCDS12501.1"
                     /db_xref="GeneID:163087"
                     /db_xref="HGNC:HGNC:18609"
                     /db_xref="MIM:619499"
ORIGIN      
        1 maegsvmfsd vsidfsqeew dcldpvqrdl yrdvmlenyg nlvsmglytp kpqvislleq
       61 gkepwmvgre ltrglcsdle smcetkllsl kkevyeielc qreimgltkh gleyssfgdv
      121 leyrshlakq lgypnghfsq eiftpeympt fiqqtfltlh qiinnedrpy eckkcgkafs
      181 qnsqfiqhqr ihigeksyec kecgkffscg shvtrhlkih tgekpfecke cgkafscssy
      241 lsqhqrihtg kkpyeckecg kafsycsnli dhqrihtgek pyeckvcgka ftkssqlfqh
      301 arihtgekpy eckecgkaft qssklvqhqr ihtgekpyec kecgkafssg saltnhqrih
      361 tgekpydcke cgkaftqssq lrqhqrihag ekpfeclecg kaftqnsqlf qhqrihtdek
      421 pyecnecgka fnkcsnltrh lrihtgekpy nckecgkafs sgsdlirhqg ihtnk
//
LOCUS       NP_996561                537 aa            linear   PRI 30-DEC-2022
DEFINITION  guanine nucleotide-binding protein-like 3 isoform 2 [Homo sapiens].
ACCESSION   NP_996561
VERSION     NP_996561.1
DBSOURCE    REFSEQ: accession NM_206825.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 537)
  AUTHORS   Wang X, Xiao L, Wang Z, Zhi L and Li Q.
  TITLE     Common variants in GNL3 gene contributed the susceptibility of hand
            osteoarthritis in Han Chinese population
  JOURNAL   Sci Rep 12 (1), 16110 (2022)
   PUBMED   36167888
  REMARK    GeneRIF: Common variants in GNL3 gene contributed the
            susceptibility of hand osteoarthritis in Han Chinese population.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 537)
  AUTHORS   Cela I, Cufaro MC, Fucito M, Pieragostino D, Lanuti P, Sallese M,
            Del Boccio P, Di Matteo A, Allocati N, De Laurenzi V and Federici
            L.
  TITLE     Proteomic Investigation of the Role of Nucleostemin in
            Nucleophosmin-Mutated OCI-AML 3 Cell Line
  JOURNAL   Int J Mol Sci 23 (14), 7655 (2022)
   PUBMED   35886999
  REMARK    GeneRIF: Proteomic Investigation of the Role of Nucleostemin in
            Nucleophosmin-Mutated OCI-AML 3 Cell Line.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 537)
  AUTHORS   Li J, Xu J, Wang Y, Li Q, Sun X, Fu W and Zhang B.
  TITLE     Association of Nucleostemin Polymorphisms with Chronic Hepatitis B
            Virus Infection in Chinese Han Population
  JOURNAL   Genet Test Mol Biomarkers 26 (5), 255-262 (2022)
   PUBMED   35638911
  REMARK    GeneRIF: Association of Nucleostemin Polymorphisms with Chronic
            Hepatitis B Virus Infection in Chinese Han Population.
REFERENCE   4  (residues 1 to 537)
  AUTHORS   Dai R, Wu M, Zhang Y, Zhu Z and Shi J.
  TITLE     G protein nucleolar 3 promotes Non-Hodgkin lymphoma progression by
            activating the Wnt/beta-catenin signaling pathway
  JOURNAL   Exp Cell Res 409 (2), 112911 (2021)
   PUBMED   34762898
  REMARK    GeneRIF: G protein nucleolar 3 promotes Non-Hodgkin lymphoma
            progression by activating the Wnt/beta-catenin signaling pathway.
REFERENCE   5  (residues 1 to 537)
  AUTHORS   Crawford M, Liu X, Cheng YL and Tsai RY.
  TITLE     Nucleostemin upregulation and STAT3 activation as early events in
            oral epithelial dysplasia progression to squamous cell carcinoma
  JOURNAL   Neoplasia 23 (12), 1289-1299 (2021)
   PUBMED   34785448
  REMARK    GeneRIF: Nucleostemin upregulation and STAT3 activation as early
            events in oral epithelial dysplasia progression to squamous cell
            carcinoma.
REFERENCE   6  (residues 1 to 537)
  AUTHORS   Schwartz PH, Bryant PJ, Fuja TJ, Su H, O'Dowd DK and Klassen H.
  TITLE     Isolation and characterization of neural progenitor cells from
            post-mortem human cortex
  JOURNAL   J Neurosci Res 74 (6), 838-851 (2003)
   PUBMED   14648588
REFERENCE   7  (residues 1 to 537)
  AUTHORS   Tsai RY and McKay RD.
  TITLE     A nucleolar mechanism controlling cell proliferation in stem cells
            and cancer cells
  JOURNAL   Genes Dev 16 (23), 2991-3003 (2002)
   PUBMED   12464630
REFERENCE   8  (residues 1 to 537)
  AUTHORS   Scherl A, Coute Y, Deon C, Calle A, Kindbeiter K, Sanchez JC, Greco
            A, Hochstrasser D and Diaz JJ.
  TITLE     Functional proteomic analysis of human nucleolus
  JOURNAL   Mol Biol Cell 13 (11), 4100-4109 (2002)
   PUBMED   12429849
REFERENCE   9  (residues 1 to 537)
  AUTHORS   Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M and
            Lamond AI.
  TITLE     Directed proteomic analysis of the human nucleolus
  JOURNAL   Curr Biol 12 (1), 1-11 (2002)
   PUBMED   11790298
REFERENCE   10 (residues 1 to 537)
  AUTHORS   Charpentier AH, Bednarek AK, Daniel RL, Hawkins KA, Laflin KJ,
            Gaddis S, MacLeod MC and Aldaz CM.
  TITLE     Effects of estrogen on global gene expression: identification of
            novel targets of estrogen action
  JOURNAL   Cancer Res 60 (21), 5977-5983 (2000)
   PUBMED   11085516
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK027514.1 and AF191018.1.
            
            Summary: The protein encoded by this gene may interact with p53 and
            may be involved in tumorigenesis. The encoded protein also appears
            to be important for stem cell proliferation. This protein is found
            in both the nucleus and nucleolus. Three transcript variants
            encoding two different isoforms have been found for this gene.
            [provided by RefSeq, Nov 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (2) is
            shorter at the N-terminus compared to isoform 1. Variants 2 and 3
            both encode the same isoform (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.12644.1,
                                           SRR14038197.2029303.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..537
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.1"
     Protein         1..537
                     /product="guanine nucleotide-binding protein-like 3
                     isoform 2"
                     /note="nucleostemin; guanine nucleotide-binding
                     protein-like 3; estradiol-induced nucleotide binding
                     protein; E2-induced gene 3 protein; novel nucleolar
                     protein 47; nucleolar GTP-binding protein 3; guanine
                     nucleotide binding protein-like 3 (nucleolar)"
                     /calculated_mol_wt=60409
     Region          4..77
                     /region_name="GN3L_Grn1"
                     /note="GNL3L/Grn1 putative GTPase; pfam08701"
                     /db_xref="CDD:430162"
     Region          130..295
                     /region_name="Nucleostemin_like"
                     /note="A circularly permuted subfamily of the Ras GTPases;
                     cd04178"
                     /db_xref="CDD:206753"
     Site            order(166..167,169..170,195..197,251..257)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206753"
     Site            166..169
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206753"
     Site            195..197
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206753"
     Site            249..256
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206753"
     Site            274..281
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206753"
     Site            277
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206753"
     CDS             1..537
                     /gene="GNL3"
                     /gene_synonym="C77032; E2IG3; NNP47; NS"
                     /coded_by="NM_206825.2:195..1808"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS43100.1"
                     /db_xref="GeneID:26354"
                     /db_xref="HGNC:HGNC:29931"
                     /db_xref="MIM:608011"
ORIGIN      
        1 mtchkrykiq kkvrehhrkl rkeakkrghk kprkdpgvpn sapfkeallr eaelrkqrle
       61 elkqqqkldr qkelekkrkl etnpdikpsn vepmekefgl cktenkaksg kqnskklycq
      121 elkkvieasd vvlevldard plgcrcpqve eaivqsgqkk lvlilnksdl vpkenleswl
      181 nylkkelptv vfrastkpkd kgkitkrvka kknaapfrse vcfgkeglwk llggfqetcs
      241 kairvgvigf pnvgkssiin slkqeqmcnv gvsmgltrsm qvvpldkqit iidspsfivs
      301 plnsssalal rspasievvk pmeaasails qadarqvvlk ytvpgyrnsl efftvlaqrr
      361 gmhqkggipn vegaakllws ewtgaslayy chpptswtpp pyfnesivvd mksgfnleel
      421 eknnaqsira ikgphlansi lfqssgltng iieekdihee lpkrkerkqe ereddkdsdq
      481 etvdeevden ssgmfaaeet gealseetta geqstrsfil dkiieedday dfstdyv
//
LOCUS       NP_001122105            1639 aa            linear   PRI 30-DEC-2022
DEFINITION  RIMS-binding protein 3C [Homo sapiens].
ACCESSION   NP_001122105 XP_036942
VERSION     NP_001122105.1
DBSOURCE    REFSEQ: accession NM_001128633.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1639)
  AUTHORS   Mittelstaedt T and Schoch S.
  TITLE     Structure and evolution of RIM-BP genes: identification of a novel
            family member
  JOURNAL   Gene 403 (1-2), 70-79 (2007)
   PUBMED   17855024
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BF513974.1, AP000557.2 and BU738457.1.
            On Jun 22, 2008 this sequence version replaced XP_036942.3.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments and paralogous data.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000433039.2/ ENSP00000390630.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1639
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     Protein         1..1639
                     /product="RIMS-binding protein 3C"
                     /note="RIMS binding protein 3.3; RIM-BP3.C"
                     /calculated_mol_wt=180819
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NJZ7.3)"
     Region          <26..>198
                     /region_name="DUF5401"
                     /note="Family of unknown function (DUF5401); pfam17380"
                     /db_xref="CDD:375164"
     Region          <81..>142
                     /region_name="ARGLU"
                     /note="Arginine and glutamate-rich 1; pfam15346"
                     /db_xref="CDD:405931"
     Region          215..240
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NJZ7.3)"
     Region          295..364
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NJZ7.3)"
     Region          <473..>666
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          697..811
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NJZ7.3)"
     Region          836..895
                     /region_name="SH3_RIM-BP_1"
                     /note="First Src homology 3 domain of Rab3-interacting
                     molecules (RIMs) binding proteins; cd12014"
                     /db_xref="CDD:212947"
     Site            order(841,843,846,856,875..876,890,892..893)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212947"
     Region          995..1056
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Site            order(1069..1070,1072..1073)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1251..1273
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NJZ7.3)"
     Region          1292..1325
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NJZ7.3)"
     Region          1392..1413
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NJZ7.3)"
     Region          1456..1517
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:450141"
     Site            order(1461,1463,1466,1478,1497..1498,1511,1513..1514)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212690"
     Region          1573..1633
                     /region_name="SH3_RIM-BP"
                     /note="Src homology 3 domains of Rab3-interacting
                     molecules (RIMs) binding proteins; cd11851"
                     /db_xref="CDD:212785"
     Site            order(1578,1580,1583,1594,1613..1614,1627,1629..1630)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212785"
     CDS             1..1639
                     /gene="RIMBP3C"
                     /gene_synonym="RIM-BP3.3; RIMBP3.3"
                     /coded_by="NM_001128633.2:486..5405"
                     /db_xref="CCDS:CCDS46669.1"
                     /db_xref="GeneID:150221"
                     /db_xref="HGNC:HGNC:33892"
                     /db_xref="MIM:612701"
ORIGIN      
        1 makdspsplg aspkkpgcss paaavlenqr releklrael eaeragwrae rrrfaarerq
       61 lreeaererr qladrlrskw eaqrsrelrq lqeemqrere aeirqllrwk eaeqrqlqql
      121 lhrerdgvvr qarelqrqla eelvnrghcs rpgasevsaa qcrcrlqevl aqlrwqtdge
      181 qaarirylqa aleverqlfl kyilahfrgh palsgspdpq avhsleeplp qtssgschap
      241 kpacqlgsld slsaevgvrs rslglvssac ssspdgllst hassldcfap acsrsldstr
      301 slpkasksee rpsspdtstp gsrrlsppps plppppppsa hrklsnprgg egsesqpcev
      361 ltpsppglgh heliklnwll akalwvlarr cytlqeenkq lrragcpyqa dekvkrlkvk
      421 raeltglarr ladrarelqe tnlravsapi pgescaglel cqvfarqrar dlseqasapl
      481 akdkqieelr qechllqarv asgpcsdlht grggpctqwl nvrdldrlqr esqrevlrlq
      541 rqlmlqqgng gawpeaggqs atceevrrqm lalereldqr rrecqelgtq aaparrrgee
      601 aetqlqaall knawlaeeng rlqaktdwvr kveaensevr ghlgracqer dasgliaeql
      661 lqqaargqdr qqqlqrdpqk alcdlhpswk eiqalqcrpg hppeqpwets qmpesqvkgs
      721 rrpkfharpe dyavsqpnrd iqekreasle espvalgesa svpqvsetvp asqplskkts
      781 sqsnsssegs mwatvpsspt ldrdtasevd dlepdsvsla lemggsaapa apklkifmaq
      841 ynynpfegpn dhpegelplt agdyiyifgd mdedgfyege lddgrrglvp snfveqipds
      901 yipgclpaks pdlgpsqlpa gqdealeeds llsgkaqgmv drglcqmvrv gsktevatei
      961 ldtkteacql gllqsmgkqg lsrpllgtkg vlrmapmqlh lqnvtatsan itwvysshrh
     1021 phvvylddre haltpagvsc ytfqglcpgt hyrvrvevrl pwdllqvywg tmsstvtfdt
     1081 llagppyppl dvlverhasp gvlvvswlpv tidsagssng vqvtgyavya dglkvcevad
     1141 atagstvlef sqlqvpltwq kvsvrtmslc gesldsvpaq ipedffmchr wpetppfsyt
     1201 cgdpstyrvt fpvcpqklsl appsakasph npgscgepqa kfleaffeep prrqspvsnl
     1261 gsegecpssg agsqaqelae awegcrkdll fqkspqnhrp psvsdqpgek encyqhmgts
     1321 kspapgfihl rtecgprkep cqekaalerv lrqkqdaqgf tppqlgasqq yasdfhnvlk
     1381 eeqealcldl rgterreerr epephsrqgq algvkrgcql hepssalcpa psakvikmpr
     1441 ggpqqlgtga ntparvfval sdynplvmsa nlkaaeeelv fqkrqllrvw gsqdthdfyl
     1501 secnrqvgni pgrlvaemev gteqtdrrwr spaqghlpsv ahledfqgli ipqgsslvlq
     1561 gnskrlplwt pkimiaaldy dpgdgqmggq gkgrlalrag dvvmvygpmd dqgfyygelg
     1621 ghrglvpahl ldhmslhgh
//
LOCUS       NP_001182660             613 aa            linear   PRI 30-DEC-2022
DEFINITION  chondroitin sulfate synthase 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001182660
VERSION     NP_001182660.2
DBSOURCE    REFSEQ: accession NM_001195731.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 613)
  AUTHORS   Lin X, Han T, Xia Q, Cui J, Zhuo M, Liang Y, Su W, Wang L, Wang L,
            Liu Z and Xiao X.
  TITLE     CHPF promotes gastric cancer tumorigenesis through the activation
            of E2F1
  JOURNAL   Cell Death Dis 12 (10), 876 (2021)
   PUBMED   34564711
  REMARK    GeneRIF: CHPF promotes gastric cancer tumorigenesis through the
            activation of E2F1.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 613)
  AUTHORS   Duan X, Yang J, Jiang B, Duan W, Wei R, Zhang H and Mao X.
  TITLE     Identification of chondroitin polymerizing factor (CHPF) as tumor
            promotor in cholangiocarcinoma through regulating cell
            proliferation, cell apoptosis and cell migration
  JOURNAL   Cell Cycle 20 (5-6), 591-602 (2021)
   PUBMED   33651657
  REMARK    GeneRIF: Identification of chondroitin polymerizing factor (CHPF)
            as tumor promotor in cholangiocarcinoma through regulating cell
            proliferation, cell apoptosis and cell migration.
REFERENCE   3  (residues 1 to 613)
  AUTHORS   Li Y, Gong H, Feng L, Mao D, Xiao Y, Wang Y and Huang L.
  TITLE     Chondroitin polymerizing factor promotes breast carcinoma cell
            proliferation, invasion and migration and affects expression of
            epithelial-mesenchymal transition-related markers
  JOURNAL   FEBS Open Bio 11 (2), 423-434 (2021)
   PUBMED   33301643
  REMARK    GeneRIF: Chondroitin polymerizing factor promotes breast carcinoma
            cell proliferation, invasion and migration and affects expression
            of epithelial-mesenchymal transition-related markers.
REFERENCE   4  (residues 1 to 613)
  AUTHORS   Sun W, Zhao F, Xu Y, Huang K, Guo X, Zheng B, Liu X, Luo Z, Kong Y,
            Xu M, Schadendorf D and Chen Y.
  TITLE     Chondroitin polymerizing factor (CHPF) promotes development of
            malignant melanoma through regulation of CDK1
  JOURNAL   Cell Death Dis 11 (7), 496 (2020)
   PUBMED   32612115
  REMARK    GeneRIF: Chondroitin polymerizing factor (CHPF) promotes
            development of malignant melanoma through regulation of CDK1.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 613)
  AUTHORS   Xu Q, Lin W, Tao C, Huang X and Li J.
  TITLE     Chondroitin polymerizing factor (CHPF) contributes to malignant
            proliferation and migration of hepatocellular carcinoma cells
  JOURNAL   Biochem Cell Biol 98 (3), 362-369 (2020)
   PUBMED   32383983
  REMARK    GeneRIF: Chondroitin polymerizing factor (CHPF) contributes to
            malignant proliferation and migration of hepatocellular carcinoma
            cells.
REFERENCE   6  (residues 1 to 613)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   7  (residues 1 to 613)
  AUTHORS   Lehner B and Sanderson CM.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   8  (residues 1 to 613)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   9  (residues 1 to 613)
  AUTHORS   Yada T, Gotoh M, Sato T, Shionyu M, Go M, Kaseyama H, Iwasaki H,
            Kikuchi N, Kwon YD, Togayachi A, Kudo T, Watanabe H, Narimatsu H
            and Kimata K.
  TITLE     Chondroitin sulfate synthase-2. Molecular cloning and
            characterization of a novel human glycosyltransferase homologous to
            chondroitin sulfate glucuronyltransferase, which has dual enzymatic
            activities
  JOURNAL   J Biol Chem 278 (32), 30235-30247 (2003)
   PUBMED   12761225
REFERENCE   10 (residues 1 to 613)
  AUTHORS   Kitagawa H, Izumikawa T, Uyama T and Sugahara K.
  TITLE     Molecular cloning of a chondroitin polymerizing factor that
            cooperates with chondroitin synthase for chondroitin polymerization
  JOURNAL   J Biol Chem 278 (26), 23666-23671 (2003)
   PUBMED   12716890
  REMARK    GeneRIF: chondroitin polymerizing activity requires concomitant
            expression of a ChPF with ChSy; coexpression of the ChPF and ChSy
            yielded markedly augmented glycosyltransferase activities, whereas
            simple mixing of the two separately expressed proteins did not.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009955.4.
            On Aug 14, 2020 this sequence version replaced NP_001182660.1.
            
            Transcript Variant: This variant (2) contains an alternate 5'
            terminal exon compared to variant 1, resulting in translation
            initiation from an in-frame downstream AUG, and an isoform (2) with
            a shorter N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302124.1, SRR14038192.1823090.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..613
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     Protein         1..613
                     /product="chondroitin sulfate synthase 2 isoform 2"
                     /EC_number="2.4.1.175"
                     /EC_number="2.4.1.226"
                     /note="chondroitin sulfate synthase 2;
                     N-acetylgalactosaminyltransferase 2; chondroitin
                     glucuronyltransferase 2;
                     N-acetylgalactosaminyl-proteoglycan
                     3-beta-glucuronosyltransferase II;
                     glucuronosyl-N-acetylgalactosaminyl-proteoglycan
                     4-beta-N-acetylgalactosaminyltransferase II"
                     /calculated_mol_wt=68210
     Region          <32..142
                     /region_name="Galactosyl_T"
                     /note="Galactosyltransferase; cl21608"
                     /db_xref="CDD:451331"
     Region          100..600
                     /region_name="CHGN"
                     /note="Chondroitin N-acetylgalactosaminyltransferase;
                     pfam05679"
                     /db_xref="CDD:428582"
     CDS             1..613
                     /gene="CHPF"
                     /gene_synonym="CHSY2; CSS2"
                     /coded_by="NM_001195731.2:358..2199"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS56169.1"
                     /db_xref="GeneID:79586"
                     /db_xref="HGNC:HGNC:24291"
                     /db_xref="MIM:610405"
ORIGIN      
        1 mavvtlgeer pighlhlalr hlleqhgddf dwfflvpdtt yteahglarl tghlslasaa
       61 hlylgrpqdf iggeptpgry chggfgvlls rmllqqlrph legcrndivs arpdewlgrc
      121 ildatgvgct gdhegvhysh lelspgepvq egdphfrsal tahpvrdpvh myqlhkafar
      181 aelertyqei qelqweiqnt shlavdgdqa aawpvgipap srpasrfevl rwdyfteqha
      241 fscadgsprc plrgadradv advlgtalee lnrryhpalr lqkqqlvngy rrfdpargme
      301 ytldlqleal tpqggrrplt rrvqllrpls rveilpvpyv teasrltvll plaaaerdla
      361 pgfleafata alepgdaaaa ltllllyepr qaqrvahadv fapvkahvae lerrfpgarv
      421 pwlsvqtaap splrlmdlls kkhpldtlfl lagpdtvltp dflnrcrmha isgwqaffpm
      481 hfqafhpava ppqgpgppel grdtgrfdrq aaseacfyns dyvaargrla aaseqeeell
      541 esldvyelfl hfsslhvlra vepallqryr aqtcsarlse dlyhrclqsv leglgsrtql
      601 amllfeqeqg nst
//
LOCUS       NP_001338907             568 aa            linear   PRI 31-DEC-2022
DEFINITION  triokinase/FMN cyclase isoform c [Homo sapiens].
ACCESSION   NP_001338907 XP_016873011
VERSION     NP_001338907.1
DBSOURCE    REFSEQ: accession NM_001351978.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 568)
  AUTHORS   Ribeiro JM, Costas MJ, Cabezas A, Meunier B, Onoufriadis A and
            Cameselle JC.
  TITLE     The TKFC Ala185Thr variant, reported as 'null' for fructose
            metabolism, is fully active as triokinase
  JOURNAL   FEBS Lett 596 (11), 1453-1457 (2022)
   PUBMED   35114011
REFERENCE   2  (residues 1 to 568)
  AUTHORS   Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F,
            Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F,
            Yue WW, Heales SJ, Davison JE, Mayr JA and Rahman S.
  TITLE     Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are
            Associated with Cataracts and Multisystem Disease
  JOURNAL   Am J Hum Genet 106 (2), 256-263 (2020)
   PUBMED   32004446
  REMARK    GeneRIF: Bi-allelic Variants in TKFC Encoding Triokinase/FMN
            Cyclase Are Associated with Cataracts and Multisystem Disease.
REFERENCE   3  (residues 1 to 568)
  AUTHORS   Rodrigues JR, Couto A, Cabezas A, Pinto RM, Ribeiro JM, Canales J,
            Costas MJ and Cameselle JC.
  TITLE     Bifunctional homodimeric triokinase/FMN cyclase: contribution of
            protein domains to the activities of the human enzyme and molecular
            dynamics simulation of domain movements
  JOURNAL   J Biol Chem 289 (15), 10620-10636 (2014)
   PUBMED   24569995
  REMARK    GeneRIF: analysis of human triokinase/FMN cyclase reveals that
            kinase activity requires intact homodimers, but cyclase requires
            only a truncated, single domain subunit
REFERENCE   4  (residues 1 to 568)
  AUTHORS   Xu,M.Y., Jia,X.F., Qu,Y., Zheng,R.D., Yuan,Z.H., Weng,H.L.,
            Dooley,S., Wang,X.P., Zhang,L.J. and Lu,L.G.
  TITLE     Serum dihydroxyacetone kinase peptide m/z 520.3 as predictor of
            disease severity in patients with compensated chronic hepatitis B
  JOURNAL   J Transl Med 11, 234 (2013)
   PUBMED   24289155
  REMARK    GeneRIF: The peptide fragment (m/z 520.3) of DAK is a promising
            biomarker to guide timing of antiviral treatment and to avoid liver
            biopsy in compensated chronic hepatitis B patients.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 568)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   6  (residues 1 to 568)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (residues 1 to 568)
  AUTHORS   Diao F, Li S, Tian Y, Zhang M, Xu LG, Zhang Y, Wang RP, Chen D,
            Zhai Z, Zhong B, Tien P and Shu HB.
  TITLE     Negative regulation of MDA5- but not RIG-I-mediated innate
            antiviral signaling by the dihydroxyacetone kinase
  JOURNAL   Proc Natl Acad Sci U S A 104 (28), 11706-11711 (2007)
   PUBMED   17600090
  REMARK    GeneRIF: DAK, the physiological suppressor of cytoplasmic viral RNA
            sensor MDA5, specifically inhibits MDA5- but not RNA helicase
            RIG-I-mediated innate antiviral signaling.
REFERENCE   8  (residues 1 to 568)
  AUTHORS   Cabezas A, Costas MJ, Pinto RM, Couto A and Cameselle JC.
  TITLE     Identification of human and rat FAD-AMP lyase (cyclic FMN forming)
            as ATP-dependent dihydroxyacetone kinases
  JOURNAL   Biochem Biophys Res Commun 338 (4), 1682-1689 (2005)
   PUBMED   16289032
  REMARK    GeneRIF: Evidence supports that a single protein sustains both FMN
            cyclase and ATP-dependent Dha kinase activities, probably in a
            single active center
REFERENCE   9  (residues 1 to 568)
  AUTHORS   Cheek S, Ginalski K, Zhang H and Grishin NV.
  TITLE     A comprehensive update of the sequence and structure classification
            of kinases
  JOURNAL   BMC Struct Biol 5, 6 (2005)
   PUBMED   15771780
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 568)
  AUTHORS   Beutler,E. and Guinto,E.
  TITLE     Dihydroxyacetone metabolism by human erythrocytes: demonstration of
            triokinase activity and its characterization
  JOURNAL   Blood 41 (4), 559-568 (1973)
   PUBMED   4688871
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003108.3.
            On Jun 2, 2017 this sequence version replaced XP_016873011.1.
            
            Summary: This gene is a member of the family of dihydroxyacetone
            kinases, which have a protein structure distinct from other
            kinases. The product of this gene phosphorylates dihydroxyacetone,
            and also catalyzes the formation of riboflavin 4',5'-phosphate (aka
            cyclin FMN) from FAD. Several alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Jun
            2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.66614.1,
                                           SRR14038193.2071899.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..568
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.2"
     Protein         1..568
                     /product="triokinase/FMN cyclase isoform c"
                     /EC_number="2.7.1.29"
                     /EC_number="4.6.1.15"
                     /EC_number="2.7.1.28"
                     /note="ATP-dependent dihydroxyacetone kinase; DHA kinase;
                     dihydroxyacetone kinase 2 homolog; FAD-AMP lyase
                     cyclizing; FAD-AMP lyase cyclic FMN forming; glycerone
                     kinase; bifunctional ATP-dependent dihydroxyacetone
                     kinase/FAD-AMP lyase (cyclizing); Dha kinase/FMN cyclase;
                     triokinase/FMN cyclase; testis tissue sperm-binding
                     protein Li 84P"
                     /calculated_mol_wt=58539
     Region          4..525
                     /region_name="Dak2"
                     /note="DAK2 domain; cl29418"
                     /db_xref="CDD:452989"
     Region          348..367
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3LXA3.2)"
     Site            350
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q3LXA3.2)"
     Site            511
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q3LXA3.2)"
     CDS             1..568
                     /gene="TKFC"
                     /gene_synonym="DAK; NET45; TKFCD"
                     /coded_by="NM_001351978.2:212..1918"
                     /note="isoform c is encoded by transcript variant 4"
                     /db_xref="GeneID:26007"
                     /db_xref="HGNC:HGNC:24552"
                     /db_xref="MIM:615844"
ORIGIN      
        1 mtskklvnsv agcaddalag lvacnpnlql lqghrvalrs dldslkgrva llsgggsghe
       61 pahagfigkg mltgviagav ftspavgsil aairavaqag tvgtllivkn ytgdrlnfgl
      121 areqaraegi pvemvvigdd saftvlkkag rrglcgtvli hkvagalaea gvgleeiakq
      181 vnvvakamgt lgvslsscsv pgskptfels adevelglgi hgeagvrrik matadeivkl
      241 mldhmtnttn ashvpvqpgs svvmmvnnlg glsflelgii adatvrsleg rgvkiaralv
      301 gtfmsalemp gisltlllvd epllklidae ttaaawpnva avsitgrkrs rvapaepqea
      361 pdstaaggsa skrmalvler vcstllglee hlnaldraag dgdcgtthsr aaraiqewlk
      421 egpppaspaq llsklsvlll ekmggssgal yglfltaaaq plkaktslpa wsaamdagle
      481 amqkygkaap gdrtmldslw aagqelqawk spgadllqvl tkavkirsgp npkispplge
      541 scdhrvyllk tlfpplhlrv gdptaltn
//
LOCUS       NP_758857                519 aa            linear   PRI 31-DEC-2022
DEFINITION  potassium voltage-gated channel subfamily G member 4 [Homo
            sapiens].
ACCESSION   NP_758857
VERSION     NP_758857.1
DBSOURCE    REFSEQ: accession NM_172347.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 519)
  AUTHORS   Lee MC, Nahorski MS, Hockley JRF, Lu VB, Ison G, Pattison LA,
            Callejo G, Stouffer K, Fletcher E, Brown C, Drissi I, Wheeler D,
            Ernfors P, Menon D, Reimann F, Smith ESJ and Woods CG.
  TITLE     Human Labor Pain Is Influenced by the Voltage-Gated Potassium
            Channel KV6.4 Subunit
  JOURNAL   Cell Rep 32 (3), 107941 (2020)
   PUBMED   32697988
  REMARK    GeneRIF: Human Labor Pain Is Influenced by the Voltage-Gated
            Potassium Channel KV6.4 Subunit.
REFERENCE   2  (residues 1 to 519)
  AUTHORS   Stas JI, Bocksteins E, Labro AJ and Snyders DJ.
  TITLE     Modulation of Closed-State Inactivation in Kv2.1/Kv6.4
            Heterotetramers as Mechanism for 4-AP Induced Potentiation
  JOURNAL   PLoS One 10 (10), e0141349 (2015)
   PUBMED   26505474
  REMARK    GeneRIF: KvS subunits modify the pharmacological response of Kv2
            subunits when assembled in heterotetramers and illustrate the
            potential of KvS subunits to provide unique properties to the
            heterotetramers, as is the case for 4-AP on Kv2.1/Kv6.4 channels.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 519)
  AUTHORS   David JP, Stas JI, Schmitt N and Bocksteins E.
  TITLE     Auxiliary KCNE subunits modulate both homotetrameric Kv2.1 and
            heterotetrameric Kv2.1/Kv6.4 channels
  JOURNAL   Sci Rep 5, 12813 (2015)
   PUBMED   26242757
  REMARK    GeneRIF: KCNE5 subunits may affect Kv2.1 homotetramers and
            Kv2.1/Kv6.4 heterotetramers in vivo, resulting in more
            tissue-specific fine-tuning mechanisms.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 519)
  AUTHORS   Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Heard-Costa N, Lohman
            K, Johnson AD, Foster MC, Greenawalt DM, Griffin P, Ding J, Newman
            AB, Tylavsky F, Miljkovic I, Kritchevsky SB, Launer L, Garcia M,
            Eiriksdottir G, Carr JJ, Gudnason V, Harris TB, Cupples LA and
            Borecki IB.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
REFERENCE   5  (residues 1 to 519)
  AUTHORS   Bocksteins E, Labro AJ, Mayeur E, Bruyns T, Timmermans JP,
            Adriaensen D and Snyders DJ.
  TITLE     Conserved negative charges in the N-terminal tetramerization domain
            mediate efficient assembly of Kv2.1 and Kv2.1/Kv6.4 channels
  JOURNAL   J Biol Chem 284 (46), 31625-31634 (2009)
   PUBMED   19717558
REFERENCE   6  (residues 1 to 519)
  AUTHORS   Mederos Y Schnitzler M, Rinne S, Skrobek L, Renigunta V,
            Schlichthorl G, Derst C, Gudermann T, Daut J and Preisig-Muller R.
  TITLE     Mutation of histidine 105 in the T1 domain of the potassium channel
            Kv2.1 disrupts heteromerization with Kv6.3 and Kv6.4
  JOURNAL   J Biol Chem 284 (7), 4695-4704 (2009)
   PUBMED   19074135
  REMARK    GeneRIF: Mutation of histidine 105 in the T1 domain of the
            potassium channel Kv2.1 disrupts heteromerization with Kv6.3 and
            Kv6.4.
REFERENCE   7  (residues 1 to 519)
  AUTHORS   Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo
            LA, Robertson GA, Rudy B, Sanguinetti MC, Stuhmer W and Wang X.
  TITLE     International Union of Pharmacology. LIII. Nomenclature and
            molecular relationships of voltage-gated potassium channels
  JOURNAL   Pharmacol Rev 57 (4), 473-508 (2005)
   PUBMED   16382104
  REMARK    Review article
REFERENCE   8  (residues 1 to 519)
  AUTHORS   Ottschytsch N, Raes AL, Timmermans JP and Snyders DJ.
  TITLE     Domain analysis of Kv6.3, an electrically silent channel
  JOURNAL   J Physiol 568 (Pt 3), 737-747 (2005)
   PUBMED   16096342
  REMARK    GeneRIF: This study suggests that the silent behaviour of Kv6.3 is
            largely caused by the C-terminal part of its sixth transmembrane
            domain that causes ER retention of the subunit.
REFERENCE   9  (residues 1 to 519)
  AUTHORS   Ottschytsch N, Raes A, Van Hoorick D and Snyders DJ.
  TITLE     Obligatory heterotetramerization of three previously
            uncharacterized Kv channel alpha-subunits identified in the human
            genome
  JOURNAL   Proc Natl Acad Sci U S A 99 (12), 7986-7991 (2002)
   PUBMED   12060745
  REMARK    GeneRIF: Obligatory heterotetramerization of three previously
            uncharacterized Kv channel subunits identified in human genome
            (Kv6.3)(Kv10.1) (Kv11.1)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009123.7.
            
            Summary: Voltage-gated potassium (Kv) channels represent the most
            complex class of voltage-gated ion channels from both functional
            and structural standpoints. Their diverse functions include
            regulating neurotransmitter release, heart rate, insulin secretion,
            neuronal excitability, epithelial electrolyte transport, smooth
            muscle contraction, and cell volume. This gene encodes a member of
            the potassium channel, voltage-gated, subfamily G. This member
            functions as a modulatory subunit. The gene has strong expression
            in brain. Multiple alternatively spliced variants have been found
            in normal and cancerous tissues. [provided by RefSeq, Jul 2008].
            
            Sequence Note:.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC109203.2 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308251.6/ ENSP00000312129.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..519
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.1"
     Protein         1..519
                     /product="potassium voltage-gated channel subfamily G
                     member 4"
                     /note="voltage-gated potassium channel Kv6.3; potassium
                     channel, voltage gated modifier subfamily G, member 4;
                     voltage-gated potassium channel subunit Kv6.4"
                     /calculated_mol_wt=58849
     Region          1..25
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDN1.1)"
     Region          58..161
                     /region_name="BTB_POZ_KCNG4"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in potassium
                     voltage-gated channel subfamily G member 4 (KCNG4);
                     cd18423"
                     /db_xref="CDD:349730"
     Site            order(64,66..73,76,112,114..115,118,121,125,128,131,133,
                     141..142,145)
                     /site_type="other"
                     /note="putative tetramer interface [polypeptide binding]"
                     /db_xref="CDD:349730"
     Site            219..240
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDN1.1)"
     Region          221..465
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Site            262..283
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDN1.1)"
     Site            295..314
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDN1.1)"
     Site            329..353
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDN1.1)"
     Site            369..390
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDN1.1)"
     Region          418..423
                     /region_name="Selectivity filter.
                     /evidence=ECO:0000250|UniProtKB:P63142"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDN1.1)"
     Site            433..461
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDN1.1)"
     CDS             1..519
                     /gene="KCNG4"
                     /gene_synonym="KV6.3; KV6.4"
                     /coded_by="NM_172347.3:384..1943"
                     /db_xref="CCDS:CCDS10945.1"
                     /db_xref="GeneID:93107"
                     /db_xref="HGNC:HGNC:19697"
                     /db_xref="MIM:607603"
ORIGIN      
        1 mpmpsrdggl hprhhhygsh spwsqllssp metpsikgly yrrvrkvgal daspvdlkke
       61 ilinvggrry llpwstldrf plsrlsklrl crsyeeivql cddydedsqe fffdrspsaf
      121 gvivsflaag klvllqemca lsfqeelayw gieeahlerc clrkllrkle eleelaklhr
      181 edvlrqqret rrpashssrw glcmnrlrem venpqsglpg kvfaclsilf vattavslcv
      241 stmpdlraee dqgecsrkcy yifiveticv awfslefclr fvqaqdkcqf fqgplniidi
      301 laispyyvsl avseeppedg erpsgssyle kvglvlrvlr alrilyvmrl arhslglqtl
      361 gltvrrctre fgllllflav aitlfsplvy vaekesgrvl eftsipasyw waiismttvg
      421 ygdmvprsvp gqmvalssil sgilimafpa tsifhtfshs ylelkkeqeq lqarlrhlqn
      481 tgpasecell dphvasehel mndvndlile gpalpimhm
//
LOCUS       NP_001027462             333 aa            linear   PRI 31-DEC-2022
DEFINITION  proline/serine-rich coiled-coil protein 1 isoform a [Homo sapiens].
ACCESSION   NP_001027462
VERSION     NP_001027462.1
DBSOURCE    REFSEQ: accession NM_001032291.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 333)
  AUTHORS   Nehlig A, Seiler C, Steblyanko Y, Dingli F, Arras G, Loew D,
            Welburn J, Prigent C, Barisic M and Nahmias C.
  TITLE     Reciprocal regulation of Aurora kinase A and ATIP3 in the control
            of metaphase spindle length
  JOURNAL   Cell Mol Life Sci 78 (4), 1765-1779 (2021)
   PUBMED   32789689
  REMARK    GeneRIF: Reciprocal regulation of Aurora kinase A and ATIP3 in the
            control of metaphase spindle length.
REFERENCE   2  (residues 1 to 333)
  AUTHORS   Rodriguez-Arellano ME, Solares-Tlapechco J, Costa-Urrutia P,
            Cardenas-Hernandez H, Vallejo-Gomez M, Granados J and Salas-Padilla
            S.
  TITLE     Association of the PSRC1 rs599839 Variant with Coronary Artery
            Disease in a Mexican Population
  JOURNAL   Medicina (Kaunas) 56 (9), 427 (2020)
   PUBMED   32858814
  REMARK    GeneRIF: Association of the PSRC1 rs599839 Variant with Coronary
            Artery Disease in a Mexican Population.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 333)
  AUTHORS   Keller M, Gebhardt C, Huth S, Schleinitz D, Heyne H, Scholz M,
            Stumvoll M, Bottcher Y, Tonjes A and Kovacs P.
  TITLE     Genetically programmed changes in transcription of the novel
            progranulin regulator
  JOURNAL   J Mol Med (Berl) 98 (8), 1139-1148 (2020)
   PUBMED   32620998
  REMARK    GeneRIF: Genetically programmed changes in transcription of the
            novel progranulin regulator.
REFERENCE   4  (residues 1 to 333)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 333)
  AUTHORS   Sanchez Munoz-Torrero JF, Rivas MD, Zamorano J, Joya-Vazquez PP, de
            Isla LP, Padro T, Mata P and The Safeheart Investigators.
  TITLE     Multivariate analysis for coronary heart disease in heterozygote
            familial hypercholesterolemia patients
  JOURNAL   Per Med 15 (2), 87-92 (2018)
   PUBMED   29714125
  REMARK    GeneRIF: the frequency of SNP rs599839 located in the 3' UTR of the
            PSRC1 gene in patients with genetically confirmed diagnosis of
            heterozygous familial hypercholesterolemia was analyzed. It was
            found that there was no association between rs599839 alleles and
            coronary heart disease in the multivariate analysis.
REFERENCE   6  (residues 1 to 333)
  AUTHORS   Hsieh WJ, Hsieh SC, Chen CC and Wang FF.
  TITLE     Human DDA3 is an oncoprotein down-regulated by p53 and DNA damage
  JOURNAL   Biochem Biophys Res Commun 369 (2), 567-572 (2008)
   PUBMED   18291097
  REMARK    GeneRIF: Together our results show that hDDA3 is a p53- and
            DNA-damage down-regulated target that exhibits oncogenic
            characteristics.
REFERENCE   7  (residues 1 to 333)
  AUTHORS   Jang CY, Wong J, Coppinger JA, Seki A, Yates JR 3rd and Fang G.
  TITLE     DDA3 recruits microtubule depolymerase Kif2a to spindle poles and
            controls spindle dynamics and mitotic chromosome movement
  JOURNAL   J Cell Biol 181 (2), 255-267 (2008)
   PUBMED   18411309
  REMARK    GeneRIF: DDA3 represents a new class of microtubule-destabilizing
            protein that controls spindle dynamics and mitotic progression by
            regulating microtubule depolymerases.
REFERENCE   8  (residues 1 to 333)
  AUTHORS   Hsieh PC, Chang JC, Sun WT, Hsieh SC, Wang MC and Wang FF.
  TITLE     p53 downstream target DDA3 is a novel microtubule-associated
            protein that interacts with end-binding protein EB3 and activates
            beta-catenin pathway
  JOURNAL   Oncogene 26 (34), 4928-4940 (2007)
   PUBMED   17310996
REFERENCE   9  (residues 1 to 333)
  AUTHORS   Lo PK and Wang FF.
  TITLE     Cloning and characterization of human and mouse DDA3 genes
  JOURNAL   Biochim Biophys Acta 1579 (2-3), 214-218 (2002)
   PUBMED   12427559
  REMARK    GeneRIF: molecular cloning, sequence analysis and gene expression
REFERENCE   10 (residues 1 to 333)
  AUTHORS   Hsieh SC, Lo PK and Wang FF.
  TITLE     Mouse DDA3 gene is a direct transcriptional target of p53 and p73
  JOURNAL   Oncogene 21 (19), 3050-3057 (2002)
   PUBMED   12082536
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BJ992594.1, AK289593.1,
            AL390252.9 and BI857497.1.
            
            Summary: This gene encodes a proline-rich protein that is a target
            for regulation by the tumor suppressor protein p53. The encoded
            protein plays an important role in mitosis by recruiting and
            regulating microtubule depolymerases that destabalize microtubules.
            Alternatively spliced transcript variants encoding different
            isoforms have been described. [provided by RefSeq, Apr 2014].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 3 encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.272385.1, AK289593.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369909.7/ ENSP00000358925.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..333
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     Protein         1..333
                     /product="proline/serine-rich coiled-coil protein 1
                     isoform a"
                     /note="differential display and activated by p53;
                     p53-regulated DDA3; proline/serine-rich coiled-coil
                     protein 1; proline/serine-rich coiled-coil 1"
                     /calculated_mol_wt=35501
     Region          8..122
                     /region_name="GTSE1_N"
                     /note="G-2 and S-phase expressed 1; pfam15259"
                     /db_xref="CDD:434581"
     Region          <98..>333
                     /region_name="PRK07003"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:235906"
     CDS             1..333
                     /gene="PSRC1"
                     /gene_synonym="DDA3; FP3214"
                     /coded_by="NM_001032291.3:122..1123"
                     /note="isoform a is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS797.1"
                     /db_xref="GeneID:84722"
                     /db_xref="HGNC:HGNC:24472"
                     /db_xref="MIM:613126"
ORIGIN      
        1 medleedvrf ivdetldfgg lspsdsreee ditvlvtpek plrrglshrs dpnavapapq
       61 gvrlslgpls pekleeilde anrlaaqleq calqdresag eglgprrvkp sprretfvlk
      121 dspvrdllpt vnsltrstps pssltprlrs ndrkgsvral ratsgkrpsn mkresptcnl
      181 fpaskspass pltrstppvr gragpsgraa aspptpirsv lapqpstsns qrlprpqgaa
      241 aksssqlpip saiprpasrm pltsrsvppg rgalppdsls trkglprpst aghrvresgh
      301 kvpvsqrlnl pvmgatrsnl qpprkvavpg ptr
//
LOCUS       NP_001381894            1125 aa            linear   PRI 31-DEC-2022
DEFINITION  serine/threonine-protein kinase Nek10 isoform 7 [Homo sapiens].
ACCESSION   NP_001381894 XP_016861259
VERSION     NP_001381894.1
DBSOURCE    REFSEQ: accession NM_001394965.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1125)
  AUTHORS   Haider N, Dutt P, van de Kooij B, Ho J, Palomero L, Pujana MA,
            Yaffe M and Stambolic V.
  TITLE     NEK10 tyrosine phosphorylates p53 and controls its transcriptional
            activity
  JOURNAL   Oncogene 39 (30), 5252-5266 (2020)
   PUBMED   32561851
  REMARK    GeneRIF: NEK10 tyrosine phosphorylates p53 and controls its
            transcriptional activity.
REFERENCE   2  (residues 1 to 1125)
  AUTHORS   Al Mutairi F, Alkhalaf R, Alkhorayyef A, Alroqi F, Yusra A, Umair
            M, Nouf F, Khan A, Meshael A, Hamad A, Monira A, Asiri A, Alhamoudi
            KM and Alfadhel M.
  TITLE     Homozygous truncating NEK10 mutation, associated with primary
            ciliary dyskinesia: a case report
  JOURNAL   BMC Pulm Med 20 (1), 141 (2020)
   PUBMED   32414360
  REMARK    GeneRIF: Homozygous truncating NEK10 mutation, associated with
            primary ciliary dyskinesia: a case report.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1125)
  AUTHORS   Chivukula RR, Montoro DT, Leung HM, Yang J, Shamseldin HE, Taylor
            MS, Dougherty GW, Zariwala MA, Carson J, Daniels MLA, Sears PR,
            Black KE, Hariri LP, Almogarri I, Frenkel EM, Vinarsky V, Omran H,
            Knowles MR, Tearney GJ, Alkuraya FS and Sabatini DM.
  TITLE     A human ciliopathy reveals essential functions for NEK10 in airway
            mucociliary clearance
  JOURNAL   Nat Med 26 (2), 244-251 (2020)
   PUBMED   31959991
  REMARK    GeneRIF: analysis of a bronchiectasis syndrome caused by mutations
            that inactivate NIMA-related kinase 10 (NEK10), a protein kinase
            with previously unknown in vivo functions in mammals
            Erratum:[Nat Med. 2020 Jan 29;:. PMID: 31996837]
REFERENCE   4  (residues 1 to 1125)
  AUTHORS   Moniz LS and Stambolic V.
  TITLE     Nek10 mediates G2/M cell cycle arrest and MEK autoactivation in
            response to UV irradiation
  JOURNAL   Mol Cell Biol 31 (1), 30-42 (2011)
   PUBMED   20956560
  REMARK    GeneRIF: Nek10 physically associated with Raf-1 and MEK1 in a
            Raf-1-dependent manner, and the formation of this complex was
            necessary for Nek10-mediated MEK1 activation.
REFERENCE   5  (residues 1 to 1125)
  AUTHORS   Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R,
            Morrison J, Maranian M, Pooley KA, Luben R, Eccles D, Evans DG,
            Fletcher O, Johnson N, dos Santos Silva I, Peto J, Stratton MR,
            Rahman N, Jacobs K, Prentice R, Anderson GL, Rajkovic A, Curb JD,
            Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE,
            Thun MJ, Diver WR, Bojesen S, Nordestgaard BG, Flyger H, Dork T,
            Schurmann P, Hillemanns P, Karstens JH, Bogdanova NV, Antonenkova
            NN, Zalutsky IV, Bermisheva M, Fedorova S, Khusnutdinova E, Kang D,
            Yoo KY, Noh DY, Ahn SH, Devilee P, van Asperen CJ, Tollenaar RA,
            Seynaeve C, Garcia-Closas M, Lissowska J, Brinton L, Peplonska B,
            Nevanlinna H, Heikkinen T, Aittomaki K, Blomqvist C, Hopper JL,
            Southey MC, Smith L, Spurdle AB, Schmidt MK, Broeks A, van Hien RR,
            Cornelissen S, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J,
            Schmutzler RK, Burwinkel B, Bartram CR, Meindl A, Brauch H,
            Justenhoven C, Hamann U, Chang-Claude J, Hein R, Wang-Gohrke S,
            Lindblom A, Margolin S, Mannermaa A, Kosma VM, Kataja V, Olson JE,
            Wang X, Fredericksen Z, Giles GG, Severi G, Baglietto L, English
            DR, Hankinson SE, Cox DG, Kraft P, Vatten LJ, Hveem K, Kumle M,
            Sigurdson A, Doody M, Bhatti P, Alexander BH, Hooning MJ, van den
            Ouweland AM, Oldenburg RA, Schutte M, Hall P, Czene K, Liu J, Li Y,
            Cox A, Elliott G, Brock I, Reed MW, Shen CY, Yu JC, Hsu GC, Chen
            ST, Anton-Culver H, Ziogas A, Andrulis IL, Knight JA, Beesley J,
            Goode EL, Couch F, Chenevix-Trench G, Hoover RN, Ponder BA, Hunter
            DJ, Pharoah PD, Dunning AM, Chanock SJ and Easton DF.
  CONSRTM   SEARCH; GENICA Consortium; kConFab; Australian Ovarian Cancer Study
            Group
  TITLE     Newly discovered breast cancer susceptibility loci on 3p24 and
            17q23.2
  JOURNAL   Nat Genet 41 (5), 585-590 (2009)
   PUBMED   19330027
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC099535.2, AC093555.2 and AC098931.3.
            On May 12, 2021 this sequence version replaced XP_016861259.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.2811285.1,
                                           SRR1803612.67104.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1125
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.1"
     Protein         1..1125
                     /product="serine/threonine-protein kinase Nek10 isoform 7"
                     /EC_number="2.7.11.1"
                     /note="serine/threonine-protein kinase Nek10; nimA-related
                     protein kinase 10; never in mitosis A-related kinase 10;
                     NIMA (never in mitosis gene a)- related kinase 10"
                     /calculated_mol_wt=127819
     Region          518..785
                     /region_name="STKc_Nek10"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Never In Mitosis gene A (NIMA)-related kinase 10; cd08528"
                     /db_xref="CDD:270867"
     Site            order(525..529,533,546,548,588,604..607,611,613,655,657,
                     659..660,662,673,676,678,691..694)
                     /site_type="active"
                     /db_xref="CDD:270867"
     Site            order(525..526,528..529,533,546,548,588,605..607,611,660,
                     662,678)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270867"
     Site            order(529,611,613,655,657,659,676,691..694)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270867"
     Site            order(672..681,687..694)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270867"
     CDS             1..1125
                     /gene="NEK10"
                     /gene_synonym="CILD44"
                     /coded_by="NM_001394965.1:197..3574"
                     /note="isoform 7 is encoded by transcript variant 7"
                     /db_xref="GeneID:152110"
                     /db_xref="HGNC:HGNC:18592"
                     /db_xref="MIM:618726"
ORIGIN      
        1 mpdqdkkvkt tekstdkqqe itirdysdlk rlrcllnvqs skqqlpainf dsaqnsmtks
       61 epairagghr argqwheste avelenfsin yknernfskh pqrklfqeif talvknrlis
      121 rewvnrapsi hflrvliclr llmrdpcyqe ilhslggien laqymeivan eylgygeeqh
      181 tvdklvnmty ifqklaavkd qrewvttsga hktlvnllga rdtnvllgsl lalaslaesq
      241 ecrekiseln ivenllmilh eydllskrlt aellrllcae pqvkeqvkly egipvllsll
      301 hsdhlkllws ivwilvqvce dpetsveiri wggikqllhi lqgdrnfvsd hssigslssa
      361 naagriqqlh lsedlsprei qentfslqaa ccaaltelvl ndtnahqvvq engvytiakl
      421 ilpnkqknaa ksnllqcyaf ralrflfsme rnrplfkrlf ptdlfeifid ighyvrdisa
      481 yeelvsklnl lvedelkqia eniesinqnk aplkyignya ildhlgsgaf gcvykvrkhs
      541 gqnllamkev nlhnpafgkd kkdrdssvrn ivseltiike qlyhpnivry yktflendrl
      601 yivmeliega plgehfsslk ekhhhfteer lwkifiqlcl alrylhkekr ivhrdltpnn
      661 imlgdkdkvt vtdfglakqk qenskltsvv gtilyscpev lksepygeka dvwavgcily
      721 qmatlsppfy stnmlslatk iveavyepvp egiysekvtd tisrcltpda earpdivevs
      781 smisdvmmky ldnlstsqls lekklererr rtqryfmean rntvtchhel avlshetfek
      841 aslsssssga aslkselses adlppegfqa sygkdedrac deilsddnfn lenaekdtys
      901 evddeldisd nssssssspl kestfnilkr sfsasggerq sqtrdftggt gsrprpgpqm
      961 gtflwqasag iavsqrkvrq isdpiqqili qlhkiiyitq lppalhhnlk rrvierfkks
     1021 lfsqqsnpcn lkseikklsq gspepiepnf ftadyhllhr ssggnslspn dptglptsie
     1081 leegityeqm qtvieevlee sgyynftsnr yhsypwgtkn hptkr
//
LOCUS       NP_001381697             474 aa            linear   PRI 31-DEC-2022
DEFINITION  COP9 signalosome complex subunit 1 isoform 16 [Homo sapiens].
ACCESSION   NP_001381697
VERSION     NP_001381697.1
DBSOURCE    REFSEQ: accession NM_001394768.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 474)
  AUTHORS   Fu H, Zhang Y, Chen Y, Chen J and Chen P.
  TITLE     CSN1 facilitates proliferation and migration of hepatocellular
            carcinoma cells by upregulating cyclin A2 expression
  JOURNAL   Mol Med Rep 23 (1) (2021)
   PUBMED   33200803
  REMARK    GeneRIF: CSN1 facilitates proliferation and migration of
            hepatocellular carcinoma cells by upregulating cyclin A2
            expression.
REFERENCE   2  (residues 1 to 474)
  AUTHORS   Feber A, Worth DC, Chakravarthy A, de Winter P, Shah K, Arya M,
            Saqib M, Nigam R, Malone PR, Tan WS, Rodney S, Freeman A, Jameson
            C, Wilson GA, Powles T, Beck S, Fenton T, Sharp TV, Muneer A and
            Kelly JD.
  TITLE     CSN1 Somatic Mutations in Penile Squamous Cell Carcinoma
  JOURNAL   Cancer Res 76 (16), 4720-4727 (2016)
   PUBMED   27325650
  REMARK    GeneRIF: We identified recurrent mutations in the novel penile
            cancer tumor suppressor genes CSN1(GPS1) and FAT1
REFERENCE   3  (residues 1 to 474)
  AUTHORS   Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y,
            van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ,
            Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ,
            Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B,
            Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM,
            Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E,
            Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ,
            Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U,
            Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB and
            Roepman R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 474)
  AUTHORS   Dubois EL, Gerber S, Kisselev A, Harel-Bellan A and Groisman R.
  TITLE     UV-dependent phosphorylation of COP9/signalosome in UV-induced
            apoptosis
  JOURNAL   Oncol Rep 35 (5), 3101-3105 (2016)
   PUBMED   26986008
  REMARK    GeneRIF: CSN1 appears to play a role not only in DNA repair but
            also in UV-induced apoptosis.
REFERENCE   5  (residues 1 to 474)
  AUTHORS   Cavadini S, Fischer ES, Bunker RD, Potenza A, Lingaraju GM, Goldie
            KN, Mohamed WI, Faty M, Petzold G, Beckwith RE, Tichkule RB,
            Hassiepen U, Abdulrahman W, Pantelic RS, Matsumoto S, Sugasawa K,
            Stahlberg H and Thoma NH.
  TITLE     Cullin-RING ubiquitin E3 ligase regulation by the COP9 signalosome
  JOURNAL   Nature 531 (7596), 598-603 (2016)
   PUBMED   27029275
REFERENCE   6  (residues 1 to 474)
  AUTHORS   Lyapina S, Cope G, Shevchenko A, Serino G, Tsuge T, Zhou C, Wolf
            DA, Wei N, Shevchenko A and Deshaies RJ.
  TITLE     Promotion of NEDD-CUL1 conjugate cleavage by COP9 signalosome
  JOURNAL   Science 292 (5520), 1382-1385 (2001)
   PUBMED   11337588
REFERENCE   7  (residues 1 to 474)
  AUTHORS   Bech-Otschir D, Kraft R, Huang X, Henklein P, Kapelari B, Pollmann
            C and Dubiel W.
  TITLE     COP9 signalosome-specific phosphorylation targets p53 to
            degradation by the ubiquitin system
  JOURNAL   EMBO J 20 (7), 1630-1639 (2001)
   PUBMED   11285227
REFERENCE   8  (residues 1 to 474)
  AUTHORS   Tsuge T, Matsui M and Wei N.
  TITLE     The subunit 1 of the COP9 signalosome suppresses gene expression
            through its N-terminal domain and incorporates into the complex
            through the PCI domain
  JOURNAL   J Mol Biol 305 (1), 1-9 (2001)
   PUBMED   11114242
  REMARK    GeneRIF: The N-terminal half of CSN1/GPS1 is required to repress
            c-fos expression and to inhibit AP-1 and SRE transactivation, while
            the C-terminal half allows integration of the protein into the COP9
            signalosome.
REFERENCE   9  (residues 1 to 474)
  AUTHORS   Seeger M, Kraft R, Ferrell K, Bech-Otschir D, Dumdey R, Schade R,
            Gordon C, Naumann M and Dubiel W.
  TITLE     A novel protein complex involved in signal transduction possessing
            similarities to 26S proteasome subunits
  JOURNAL   FASEB J 12 (6), 469-478 (1998)
   PUBMED   9535219
REFERENCE   10 (residues 1 to 474)
  AUTHORS   Spain BH, Bowdish KS, Pacal AR, Staub SF, Koo D, Chang CY, Xie W
            and Colicelli J.
  TITLE     Two human cDNAs, including a homolog of Arabidopsis FUS6 (COP11),
            suppress G-protein- and mitogen-activated protein kinase-mediated
            signal transduction in yeast and mammalian cells
  JOURNAL   Mol Cell Biol 16 (12), 6698-6706 (1996)
   PUBMED   8943324
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135056.4.
            
            Summary: This gene is known to suppress G-protein and
            mitogen-activated signal transduction in mammalian cells. The
            encoded protein shares significant similarity with Arabidopsis
            FUS6, which is a regulator of light-mediated signal transduction in
            plant cells. [provided by RefSeq, Mar 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372080.1099574.1,
                                           SRR14038193.243842.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..474
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..474
                     /product="COP9 signalosome complex subunit 1 isoform 16"
                     /note="COP9 signalosome complex subunit 1; JAB1-containing
                     signalosome subunit 1"
                     /calculated_mol_wt=53557
     Region          111..292
                     /region_name="RPN7"
                     /note="26S proteasome subunit RPN7; pfam10602"
                     /db_xref="CDD:431387"
     Region          307..411
                     /region_name="PCI"
                     /note="PCI domain; pfam01399"
                     /db_xref="CDD:396121"
     CDS             1..474
                     /gene="GPS1"
                     /gene_synonym="COPS1; CSN1; SGN1"
                     /coded_by="NM_001394768.1:168..1592"
                     /note="isoform 16 is encoded by transcript variant 19"
                     /db_xref="GeneID:2873"
                     /db_xref="HGNC:HGNC:4549"
                     /db_xref="MIM:601934"
ORIGIN      
        1 mqidvdpqed pqnapdvnyv venpsldleq yaasysglmr ierlqfiadh cptlrvealk
       61 malsfvqrtf nvdmyeeihr klseatrssl relqnapdai pesgveppal dtawveatrk
      121 kallklekld tdlknykgns ikesirrghd dlgdhyldcg dlsnalkcys rardyctsak
      181 hvinmclnvi kvsvylqnws hvlsyvskae stpeiaerge rdsqtqailt klkcaaglae
      241 laarkykqaa kclllasfdh cdfpellsps nvaiygglca latfdrqelq rnvissssfk
      301 lflelepqvr diifkfyesk yasclkmlde mkdnllldmy laphvrtlyt qirnraliqy
      361 fspyvsadmh rmaaafnttv aaledeltql ileglisarv dshskilyar dvdqrsttfe
      421 ksllmgkefq rrakammlra avlrnqihvk sppregsqge ltpansqsrm stnm
//
LOCUS       NP_703146                311 aa            linear   PRI 31-DEC-2022
DEFINITION  olfactory receptor 5P3 [Homo sapiens].
ACCESSION   NP_703146
VERSION     NP_703146.1
DBSOURCE    REFSEQ: accession NM_153445.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 311)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (residues 1 to 311)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
REFERENCE   3  (residues 1 to 311)
  AUTHORS   Gaudin JC, Breuils L and Haertle T.
  TITLE     New GPCRs from a human lingual cDNA library
  JOURNAL   Chem Senses 26 (9), 1157-1166 (2001)
   PUBMED   11705801
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC044810.7.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641167.1/ ENSP00000492944.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..311
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..311
                     /product="olfactory receptor 5P3"
                     /note="putative taste receptor; olfactory receptor-like
                     protein JCG1; olfactory receptor OR11-94"
                     /calculated_mol_wt=34165
     Site            5
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WZ94.1)"
     Region          25..303
                     /region_name="7tmA_OR5P-like"
                     /note="olfactory receptor subfamily 5P and related
                     proteins, member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15416"
                     /db_xref="CDD:320538"
     Region          26..52
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320538"
     Site            26..46
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ94.1)"
     Site            55..75
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ94.1)"
     Region          59..85
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320538"
     Site            order(81,84..85,97..102,104..105,108,153,155..159,195,
                     198..200,202..204,206..207,252,255..256,258..259,262,
                     268..269,271..273,276,279..280)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320538"
     Region          97..127
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320538"
     Site            100..120
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ94.1)"
     Region          140..161
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320538"
     Site            140..160
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ94.1)"
     Region          195..225
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320538"
     Site            197..217
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ94.1)"
     Region          232..262
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320538"
     Site            238..258
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ94.1)"
     Region          269..294
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320538"
     Site            272..292
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ94.1)"
     CDS             1..311
                     /gene="OR5P3"
                     /gene_synonym="JCG1"
                     /coded_by="NM_153445.2:39..974"
                     /db_xref="CCDS:CCDS7783.1"
                     /db_xref="GeneID:120066"
                     /db_xref="HGNC:HGNC:14784"
ORIGIN      
        1 mgtgndttvv eftllglsed ttvcailflv flgiyvvtlm gnisiivlir rshhlhtpmy
       61 iflchlafvd igysssvtpv mlmsflrket slpvagcvaq lcsvvtfgta ecfllaamay
      121 dryvaicspl lystcmspgv ciilvgmsyl ggcvnawtfi gcllrlsfcg pnkvnhffcd
      181 yspllklacs hdftfeiipa issgsiivat vcviaisyiy ilitilkmhs tkgrhkafst
      241 ctshltavtl fygtitfiyv mpkssystdq nkvvsvfytv vipmlnpliy slrnkeikga
      301 lkrelrikif s
//
LOCUS       NP_001376580             711 aa            linear   PRI 31-DEC-2022
DEFINITION  chondroitin sulfate glucuronyltransferase isoform 3 precursor [Homo
            sapiens].
ACCESSION   NP_001376580
VERSION     NP_001376580.1
DBSOURCE    REFSEQ: accession NM_001389651.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 711)
  AUTHORS   Kalathas D, Theocharis DA, Bounias D, Kyriakopoulou D,
            Papageorgakopoulou N, Stavropoulos MS and Vynios DH.
  TITLE     Chondroitin synthases I, II, III and chondroitin sulfate
            glucuronyltransferase expression in colorectal cancer
  JOURNAL   Mol Med Rep 4 (2), 363-368 (2011)
   PUBMED   21468578
  REMARK    GeneRIF: The present study focused on the expression of
            chondroitin-synthesizing enzymes in colorectal cancer.
REFERENCE   2  (residues 1 to 711)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   3  (residues 1 to 711)
  AUTHORS   Izumikawa T, Koike T, Shiozawa S, Sugahara K, Tamura J and Kitagawa
            H.
  TITLE     Identification of chondroitin sulfate glucuronyltransferase as
            chondroitin synthase-3 involved in chondroitin polymerization:
            chondroitin polymerization is achieved by multiple enzyme complexes
            consisting of chondroitin synthase family members
  JOURNAL   J Biol Chem 283 (17), 11396-11406 (2008)
   PUBMED   18316376
  REMARK    GeneRIF: chondroitin polymerization is achieved by multiple
            combinations of ChSy-1, ChSy-2, CSGlcA-T, and ChPF and each
            combination may play a unique role in the biosynthesis of CS;
            CSGlcA-T is identified as chondroitin synthase-3 (ChSy-3)
REFERENCE   4  (residues 1 to 711)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   5  (residues 1 to 711)
  AUTHORS   Gotoh M, Yada T, Sato T, Akashima T, Iwasaki H, Mochizuki H, Inaba
            N, Togayachi A, Kudo T, Watanabe H, Kimata K and Narimatsu H.
  TITLE     Molecular cloning and characterization of a novel chondroitin
            sulfate glucuronyltransferase that transfers glucuronic acid to
            N-acetylgalactosamine
  JOURNAL   J Biol Chem 277 (41), 38179-38188 (2002)
   PUBMED   12145278
  REMARK    GeneRIF: Results describe a novel human gene that possesses
            homology with chondroitin synthase.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC021097.5.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2700769.1,
                                           SRR11853561.26803.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..711
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     Protein         1..711
                     /product="chondroitin sulfate glucuronyltransferase
                     isoform 3 precursor"
                     /EC_number="2.4.1.226"
                     /note="chondroitin sulfate glucuronyltransferase;
                     chondroitin synthase-3;
                     N-acetylgalactosaminyl-proteoglycan
                     3-beta-glucuronosyltransferase"
                     /calculated_mol_wt=76889
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2048
     Site            7..29
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2E5.2)"
     Site            121
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9P2E5.2)"
     Region          <177..>269
                     /region_name="Galactosyl_T"
                     /note="Galactosyltransferase; cl21608"
                     /db_xref="CDD:451331"
     Region          242..698
                     /region_name="CHGN"
                     /note="Chondroitin N-acetylgalactosaminyltransferase;
                     pfam05679"
                     /db_xref="CDD:428582"
     CDS             1..711
                     /gene="CHPF2"
                     /gene_synonym="chPF-2; ChSy-3; CSGLCA-T; CSGlcAT"
                     /coded_by="NM_001389651.1:1530..3665"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS94234.1"
                     /db_xref="GeneID:54480"
                     /db_xref="HGNC:HGNC:29270"
                     /db_xref="MIM:608037"
ORIGIN      
        1 mrlssllall rpalplilgl slgcslsllr vswiqgeged pcveavgerg gpqnpdsrar
       61 ldqsdedfkp rivpyyrdpn kpykkvlrtr yiqtelgsre rllvavltsr atlstlavav
      121 nrtvahhfpr llyftgqrga rapagmqvvs hgderpawlm setlrhlhth fgadydwffi
      181 mqddtyvqap rlaalaghls inqdlylgra eefigageqa rychggfgyl lsrslllrlr
      241 phldgcrgdi lsarpdewlg rclidslgvg cvsqhqaqir nltvltpege aglswpvglp
      301 apftphsrfe vlgwdyfteq htfscadgap kcplqgasra dvgdaletal eqlnrryqpr
      361 lrfqkqrlln gyrrfdparg meytldllle cvtqrghrra larrvsllrp lsrveilpmp
      421 yvteatrvql vlpllvaeaa aapafleafa anvlepreha lltlllvygp reggrgapdp
      481 flgvkaaaae lerrypgtrl awlavraeap sqvrlmdvvs kkhpvdtlff lttvwtrpgp
      541 evlnrcrmna isgwqaffpv hfqefnpals pqrsppgppg agpdppsppg adpsrgapig
      601 grfdrqasae gcfynadyla ararlagela gqeeeealeg levmdvflrf sglhlfrave
      661 pglvqkfslr dcsprlseel yhrcrlsnle glggraqlam alfeqeqans t
//
LOCUS       NP_001374933            1108 aa            linear   PRI 31-DEC-2022
DEFINITION  large proline-rich protein BAG6 isoform 14 [Homo sapiens].
ACCESSION   NP_001374933
VERSION     NP_001374933.1
DBSOURCE    REFSEQ: accession NM_001388004.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1108)
  AUTHORS   Roboti P, Lawless C and High S.
  TITLE     Mitochondrial antiviral-signalling protein is a client of the BAG6
            protein quality control complex
  JOURNAL   J Cell Sci 135 (9) (2022)
   PUBMED   35543156
  REMARK    GeneRIF: Mitochondrial antiviral-signalling protein is a client of
            the BAG6 protein quality control complex.
REFERENCE   2  (residues 1 to 1108)
  AUTHORS   Koike K, Masuda T, Sato K, Fujii A, Wakiyama H, Tobo T, Takahashi
            J, Motomura Y, Nakano T, Saito H, Matsumoto Y, Otsu H, Takeishi K,
            Yonemura Y, Mimori K and Nakagawa T.
  TITLE     GET4 is a novel driver gene in colorectal cancer that regulates the
            localization of BAG6, a nucleocytoplasmic shuttling protein
  JOURNAL   Cancer Sci 113 (1), 156-169 (2022)
   PUBMED   34704338
  REMARK    GeneRIF: GET4 is a novel driver gene in colorectal cancer that
            regulates the localization of BAG6, a nucleocytoplasmic shuttling
            protein.
REFERENCE   3  (residues 1 to 1108)
  AUTHORS   Ponath V, Hoffmann N, Bergmann L, Mader C, Alashkar Alhamwe B,
            Preusser C and Pogge von Strandmann E.
  TITLE     Secreted Ligands of the NK Cell Receptor NKp30: B7-H6 Is in
            Contrast to BAG6 Only Marginally Released via Extracellular
            Vesicles
  JOURNAL   Int J Mol Sci 22 (4), 2189 (2021)
   PUBMED   33671836
  REMARK    GeneRIF: Secreted Ligands of the NK Cell Receptor NKp30: B7-H6 Is
            in Contrast to BAG6 Only Marginally Released via Extracellular
            Vesicles.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1108)
  AUTHORS   Yuan X, Guo M, Li Y, Han Y and Li P.
  TITLE     Association Between eNOS, MMP-9, BAG-6 Gene Polymorphisms and Risk
            of Hypertensive Disorders of Pregnancy in the Northern Chinese
            Population
  JOURNAL   DNA Cell Biol 40 (2), 393-404 (2021)
   PUBMED   33539267
  REMARK    GeneRIF: Association Between eNOS, MMP-9, BAG-6 Gene Polymorphisms
            and Risk of Hypertensive Disorders of Pregnancy in the Northern
            Chinese Population.
REFERENCE   5  (residues 1 to 1108)
  AUTHORS   Ragimbeau R, El Kebriti L, Sebti S, Fourgous E, Boulahtouf A, Arena
            G, Espert L, Turtoi A, Gongora C, Houede N and Pattingre S.
  TITLE     BAG6 promotes PINK1 signaling pathway and is essential for
            mitophagy
  JOURNAL   FASEB J 35 (2), e21361 (2021)
   PUBMED   33522017
  REMARK    GeneRIF: BAG6 promotes PINK1 signaling pathway and is essential for
            mitophagy.
REFERENCE   6  (residues 1 to 1108)
  AUTHORS   Ozaki T, Hanaoka E, Naka M, Nakagawara A and Sakiyama S.
  TITLE     Cloning and characterization of rat BAT3 cDNA
  JOURNAL   DNA Cell Biol 18 (6), 503-512 (1999)
   PUBMED   10390159
REFERENCE   7  (residues 1 to 1108)
  AUTHORS   Cross SJ, Tonks S, Trowsdale J and Campbell RD.
  TITLE     Novel detection of restriction fragment length polymorphisms in the
            human major histocompatibility complex
  JOURNAL   Immunogenetics 34 (6), 376-384 (1991)
   PUBMED   1684176
REFERENCE   8  (residues 1 to 1108)
  AUTHORS   Banerji J, Sands J, Strominger JL and Spies T.
  TITLE     A gene pair from the human major histocompatibility complex encodes
            large proline-rich proteins with multiple repeated motifs and a
            single ubiquitin-like domain
  JOURNAL   Proc Natl Acad Sci U S A 87 (6), 2374-2378 (1990)
   PUBMED   2156268
REFERENCE   9  (residues 1 to 1108)
  AUTHORS   Spies T, Bresnahan M and Strominger JL.
  TITLE     Human major histocompatibility complex contains a minimum of 19
            genes between the complement cluster and HLA-B
  JOURNAL   Proc Natl Acad Sci U S A 86 (22), 8955-8958 (1989)
   PUBMED   2813433
REFERENCE   10 (residues 1 to 1108)
  AUTHORS   Spies T, Blanck G, Bresnahan M, Sands J and Strominger JL.
  TITLE     A new cluster of genes within the human major histocompatibility
            complex
  JOURNAL   Science 243 (4888), 214-217 (1989)
   PUBMED   2911734
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL662801.7.
            
            Summary: This gene was first characterized as part of a cluster of
            genes located within the human major histocompatibility complex
            class III region. This gene encodes a nuclear protein that is
            cleaved by caspase 3 and is implicated in the control of apoptosis.
            In addition, the protein forms a complex with E1A binding protein
            p300 and is required for the acetylation of p53 in response to DNA
            damage. Multiple transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.2414923.1,
                                           SRR14038196.2847468.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1108
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     Protein         1..1108
                     /product="large proline-rich protein BAG6 isoform 14"
                     /note="scythe; large proline-rich protein BAT3; large
                     proline-rich protein BAG6; protein G3; HLA-B-associated
                     transcript 3; protein Scythe; BAG family molecular
                     chaperone regulator 6; BCL2 associated athanogene 6"
                     /calculated_mol_wt=116669
     Region          17..87
                     /region_name="Ubl_BAG6"
                     /note="ubiquitin-like (Ubl) domain found in
                     BCL2-associated athanogene 6 (BAG6) and similar proteins;
                     cd01809"
                     /db_xref="CDD:340507"
     Site            order(22..25,58,60,62..65,83..87)
                     /site_type="other"
                     /note="ZF interaction site [polypeptide binding]"
                     /db_xref="CDD:340507"
     Region          252..368
                     /region_name="DUF3538"
                     /note="Domain of unknown function (DUF3538); pfam12057"
                     /db_xref="CDD:432295"
     Region          <881..1072
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     CDS             1..1108
                     /gene="BAG6"
                     /gene_synonym="BAG-6; BAT3; D6S52E; G3"
                     /coded_by="NM_001388004.1:158..3484"
                     /note="isoform 14 is encoded by transcript variant 44"
                     /db_xref="GeneID:7917"
                     /db_xref="HGNC:HGNC:13919"
                     /db_xref="MIM:142590"
ORIGIN      
        1 mepndststa veepdslevl vktldsqtrt fivgaqmnvk efkehiaasv sipsekqrli
       61 yqgrvlqddk klqeynvggk vihlverapp qthlpsgass gtgsasathg ggsppgtrgp
      121 gasvhdrnan syvmvgtfnl pseprvrlvm aqhmirdiqt llsrmecrgg pqpqhsqppp
      181 qppavtpepv alssqtsepv eseapprepm eaeeveerap aqnpeltpgp apagptpape
      241 tnapnhpspa eyvevlqelq rlesrlqpfl qryyevlgaa attdynnnhe greedqrlin
      301 lvgeslrllg ntfvalsdlr cnlactpprh lhvvrpmshy ttpmvlqqaa ipiqinvgtt
      361 vtmtgngtrp pptpnaeapp pgpgqassva psstnvessa egapppgpap ppatshprvi
      421 rishqsvepv vmmhmniqds gtqpggvpsa ptgplgppgh gqtlgqqvpg fptaptrvvi
      481 arptppqarp shpggppvsg tlqgaglgtn aslaqmvsgl vgqllmqpvl vaqgtpgmap
      541 ppapatasas agttntatta gpapggpaqp pptpqpsmad lqfsqllgnl lgpagpgagg
      601 sgvasptitv ampgvpaflq gmtdflqatq tapppppppp ppppapeqqt mpppgspsgg
      661 agspgglgle slspefftsv vqgvlssllg slgaragsse siaafiqrls gssnifepga
      721 dgalgffgal lsllcqnfsm vdvvmllhgh fqplqrlqpq lrsffhqhyl ggqeptpsni
      781 rmathtlitg leeyvresfs lvqvqpgvdi irtnleflqe qfnsiaahvl hctdsgfgar
      841 llelcnqglf eclalnlhcl ggqqmelaav ingrirrmsr gvnpslvswl ttmmglrlqv
      901 vlehmpvgpd ailryvrrvg dppqplpeep mevqgaeras pepqrenasp apgttaeeam
      961 srgpppapeg gsrdeqdgas aetepwaaav ppewvpiiqq diqsqrkvkp qpplsdayls
     1021 gmpakrrktm qgegpqllls eavsraakaa garpltspes lsrdleapev qesyrqqlrs
     1081 diqkrlqedp nyspqrfpna qrafaddp
//
LOCUS       NP_001392597            1459 aa            linear   PRI 01-JAN-2023
DEFINITION  neuroblastoma breakpoint family member 1 isoform 3 [Homo sapiens].
ACCESSION   NP_001392597
VERSION     NP_001392597.1
DBSOURCE    REFSEQ: accession NM_001405668.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1459)
  AUTHORS   Li L, Chen S, Tang Y, Wu J, He Y and Qiu L.
  TITLE     Oncogene or tumor suppressor gene: An integrated pan-cancer
            analysis of NBPF1
  JOURNAL   Front Endocrinol (Lausanne) 13, 950326 (2022)
   PUBMED   36060966
  REMARK    GeneRIF: Oncogene or tumor suppressor gene: An integrated
            pan-cancer analysis of NBPF1.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1459)
  AUTHORS   Zhang J, Zhao Y, Wang J, Sneh T, Yu Q, Zhou X and Gong C.
  TITLE     NBPF1 independently determine the risk stratification and prognosis
            of patients with neuroblastoma
  JOURNAL   Genomics 112 (6), 3951-3957 (2020)
   PUBMED   32619576
  REMARK    GeneRIF: NBPF1 independently determine the risk stratification and
            prognosis of patients with neuroblastoma.
REFERENCE   3  (residues 1 to 1459)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 1459)
  AUTHORS   Gao Y, Zhu H and Mao Q.
  TITLE     Effects of neuroblastoma breakpoint family member 1 (NBPF1) gene on
            growth and Akt-p53-Cyclin D pathway in cutaneous squamous carcinoma
            cells
  JOURNAL   Neoplasma 66 (4), 584-592 (2019)
   PUBMED   31058534
  REMARK    GeneRIF: Upregulation of NBPF1 might promote apoptosis of A431
            squamous carcinoma cells and block cell cycle via inhibiting the
            activation of Akt-p53-Cyclin signaling pathway
REFERENCE   5  (residues 1 to 1459)
  AUTHORS   Qin Y, Tang X and Liu M.
  TITLE     Tumor-Suppressor Gene NBPF1 Inhibits Invasion and PI3K/mTOR
            Signaling in Cervical Cancer Cells
  JOURNAL   Oncol Res 23 (1-2), 13-20 (2016)
   PUBMED   26802646
  REMARK    GeneRIF: NBPF1 overexpression may be a suppressor for cervical
            cancer via affecting cell invasion and apoptosis through regulating
            PI3K/mTOR signaling pathway.
REFERENCE   6  (residues 1 to 1459)
  AUTHORS   Andries V, Vandepoele K, Staes K, Berx G, Bogaert P, Van Isterdael
            G, Ginneberge D, Parthoens E, Vandenbussche J, Gevaert K and van
            Roy F.
  TITLE     NBPF1, a tumor suppressor candidate in neuroblastoma, exerts growth
            inhibitory effects by inducing a G1 cell cycle arrest
  JOURNAL   BMC Cancer 15, 391 (2015)
   PUBMED   25958384
  REMARK    GeneRIF: We demonstrated that NBPF1 exerts different tumor
            suppressive effects, depending on the cell line analyzed, and
            provide new clues into the molecular mechanism of the enigmatic
            NBPF proteins.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 1459)
  AUTHORS   O'Bleness MS, Dickens CM, Dumas LJ, Kehrer-Sawatzki H, Wyckoff GJ
            and Sikela JM.
  TITLE     Evolutionary history and genome organization of DUF1220 protein
            domains
  JOURNAL   G3 (Bethesda) 2 (9), 977-986 (2012)
   PUBMED   22973535
REFERENCE   8  (residues 1 to 1459)
  AUTHORS   Vandepoele K, Staes K, Andries V and van Roy F.
  TITLE     Chibby interacts with NBPF1 and clusterin, two candidate tumor
            suppressors linked to neuroblastoma
  JOURNAL   Exp Cell Res 316 (7), 1225-1233 (2010)
   PUBMED   20096688
  REMARK    GeneRIF: Chibby and clusterin were co-immunoprecipitated with
            NBPF1.
REFERENCE   9  (residues 1 to 1459)
  AUTHORS   Vandepoele K, Van Roy N, Staes K, Speleman F and van Roy F.
  TITLE     A novel gene family NBPF: intricate structure generated by gene
            duplications during primate evolution
  JOURNAL   Mol Biol Evol 22 (11), 2265-2274 (2005)
   PUBMED   16079250
REFERENCE   10 (residues 1 to 1459)
  AUTHORS   Laureys G, Speleman F, Versteeg R, van der Drift P, Chan A, Leroy
            J, Francke U, Opdenakker G and Van Roy N.
  TITLE     Constitutional translocation t(1;17)(p36.31-p36.13;q11.2-q12.1) in
            a neuroblastoma patient. Establishment of somatic cell hybrids and
            identification of PND/A12M2 on chromosome 1 and NF1/SCYA7 on
            chromosome 17 as breakpoint flanking single copy markers
  JOURNAL   Oncogene 10 (6), 1087-1093 (1995)
   PUBMED   7700633
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC277909.1 and AC254635.1.
            
            Summary: This gene is a member of the neuroblastoma breakpoint
            family (NBPF) which consists of dozens of recently duplicated genes
            primarily located in segmental duplications on human chromosome 1.
            This gene family has experienced its greatest expansion within the
            human lineage and has expanded, to a lesser extent, among primates
            in general. Members of this gene family are characterized by
            tandemly repeated copies of DUF1220 protein domains. Gene copy
            number variations in the human chromosomal region 1q21.1, where
            most DUF1220 domains are located, have been implicated in a number
            of developmental and neurogenetic diseases such as microcephaly,
            macrocephaly, autism, schizophrenia, cognitive disability,
            congenital heart disease, neuroblastoma, and congenital kidney and
            urinary tract anomalies. Altered expression of some gene family
            members is associated with several types of cancer. This gene
            family contains numerous pseudogenes. [provided by RefSeq, Apr
            2013].
FEATURES             Location/Qualifiers
     source          1..1459
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     Protein         1..1459
                     /product="neuroblastoma breakpoint family member 1 isoform
                     3"
                     /note="neuroblastoma breakpoint family member 1"
                     /calculated_mol_wt=167502
     Region          180..240
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          <282..>672
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          451..511
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          719..782
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          813..867
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          876..943
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          951..1018
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          1026..1093
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          1127..1188
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          1196..1263
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          1271..1338
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          1372..1433
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     CDS             1..1459
                     /gene="NBPF1"
                     /gene_synonym="AB13; AB14; AB23; AD2; NBG; NBPF"
                     /coded_by="NM_001405668.2:970..5349"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:55672"
                     /db_xref="HGNC:HGNC:26088"
                     /db_xref="MIM:610501"
ORIGIN      
        1 mvvsagpwss ekaetnilei neklrpqlae kkqqfrnlke kcfvtqlagf lanrqkkyky
       61 eeckdlikfm lrnerqfkee klaeqlkqae elrqykvlvh sqereltqlr eklregrdas
      121 rslnqhlqal ltpdkpdksq gqdlqeqlae gcrlaqqlfq klspendede dedvqveeae
      181 kvlessapre vqkaeeskvp edsleecait csnshgpcds nqphkninit feedkvnsal
      241 vvdresshde cqdavnilpv pgptssatnv smvvsagplf sekaemnile ineklhpqla
      301 eknqqfrnlk ekcfvtqlac flanqqnkyk yeeckdliks mlrkerqfke eklaeqlkqa
      361 eelrqykvlv hsqerelthl reklregrda srslnqhlqa lltpdkpdks qgqdlqeqla
      421 egcrlaqqlf qklspended ededvqveea ekvlessapr evqkaeeskv pedsleecai
      481 tcsnshspcd snqphknini tfeedkvnst lvvdresshd ecqdavnilp vpgptssatn
      541 vsmvvsagpl ssekaemnil eineklhpql aekkqqfrnl kekcfvtqla cflanqqnky
      601 kyeeckdlik smlrnerqfk eeklaeqlkq aeelrqykvl vhsqereltq lreklregrd
      661 asrslnqhlq alltpdepdk sqgqdlqeql aegcrlaqhl vqklspendn dddedvqvev
      721 aekvqessap rempkaeeke vpedsleeca itcsnshgpy dsnqphrktk itfeedkvds
      781 tligssshve wedavhiipe nesddeeeee kgpvsprnlq eseeeevpqe swdegystls
      841 ippemlasyq sysgtfhsle eqqvcmavdi gghrwdqvkk edqeatgprl srelldekgp
      901 evlqdsldrc ystpsgylel tdscqpyrsa fyileqqrvg waldmdeiek yqeveedqdp
      961 scprlsrell dekepevlqd sldrcystps gylelpdlgq pyrsavysle eqylglaldv
     1021 drikkdqeee edqgppcprl srelleavep evlqdsldrc ystpsscleq pdsclpygss
     1081 fyaleekhvg fsldvgeiek kgkgkkrrgr rstkkrrrrg rkegeedqnp pcprlsrell
     1141 dekgpevlqd sldrcystps gyleltdscq pyrsafyile qqrvgwaldm deiekyqeve
     1201 edqdpscprl srelldekep evlqdsldrc ystpsgylel pdlgqpyrsa vysleeqylg
     1261 laldvdrikk dqeeeedqgp pcprlsrell eavepevlqd sldrcystps scleqpdscl
     1321 pygssfyale ekhvgfsldv geiekkgkgk krrgrrstkk rrrrgrkege edqnppcprl
     1381 sgvlmeveep evlqdsldrc ystpsmffel pdsfqhyrsv fysfeeqhis faldvdnrfl
     1441 tlmgtslhlv fqmgvifpq
//
LOCUS       NP_001365929             836 aa            linear   PRI 19-JAN-2023
DEFINITION  glutamate receptor 2 isoform 4 [Homo sapiens].
ACCESSION   NP_001365929
VERSION     NP_001365929.3
DBSOURCE    REFSEQ: accession NM_001379000.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 836)
  AUTHORS   Coombs ID, Ziobro J, Krotov V, Surtees TL, Cull-Candy SG and
            Farrant M.
  TITLE     A gain-of-function GRIA2 variant associated with neurodevelopmental
            delay and seizures: Functional characterization and targeted
            treatment
  JOURNAL   Epilepsia 63 (12), e156-e163 (2022)
   PUBMED   36161652
REFERENCE   2  (residues 1 to 836)
  AUTHORS   La TM, Yamada H, Seiriki S, Li SA, Fujise K, Katsumi N, Abe T,
            Watanabe M and Takei K.
  TITLE     Internalization of AMPA-type Glutamate Receptor in the MIN6
            Pancreatic beta-cell Line
  JOURNAL   Cell Struct Funct 45 (2), 121-130 (2020)
   PUBMED   32581155
  REMARK    GeneRIF: Internalization of AMPA-type Glutamate Receptor in the
            MIN6 Pancreatic beta-cell Line.
REFERENCE   3  (residues 1 to 836)
  AUTHORS   Qneibi M, Hamed O, Natsheh AR, Fares O, Jaradat N, Emwas N,
            AbuHasan Q, Al-Kerm R and Al-Kerm R.
  TITLE     Inhibition and assessment of the biophysical gating properties of
            GluA2 and GluA2/A3 AMPA receptors using curcumin derivatives
  JOURNAL   PLoS One 14 (8), e0221132 (2019)
   PUBMED   31454362
  REMARK    GeneRIF: he current study investigated novel curcumin derivatives
            on the biophysical properties of AMPA receptors, specifically on
            the homomeric GluA2 and the heteromeric GluA2/A3 subunits and
            assessed for inhibitory actions
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 836)
  AUTHORS   Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S,
            Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M,
            Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb
            A, Chen S, Pisani L, Bettencourt C, Mannikko R, Manole A, Brusco A,
            Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O,
            Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert
            R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson
            A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir
            AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW,
            Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Penas J,
            Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D,
            Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A,
            Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino
            JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M,
            Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya
            A, Rothman JE, Eichler EE, Kullmann DM and Houlden H.
  CONSRTM   SYNAPS Study Group
  TITLE     AMPA receptor GluA2 subunit defects are a cause of
            neurodevelopmental disorders
  JOURNAL   Nat Commun 10 (1), 3094 (2019)
   PUBMED   31300657
  REMARK    GeneRIF: Study reports heterozygous de novo GRIA2 mutations in 28
            unrelated patients with intellectual disability and
            neurodevelopmental abnormalities. When GluA2 subunits are
            co-expressed with GluA1, most GRIA2 mutations cause a decreased
            current amplitude and some also affect voltage rectification.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 836)
  AUTHORS   Dawe GB, Kadir MF, Venskutonyte R, Perozzo AM, Yan Y, Alexander
            RPD, Navarrete C, Santander EA, Arsenault M, Fuentes C, Aurousseau
            MRP, Frydenvang K, Barrera NP, Kastrup JS, Edwardson JM and Bowie
            D.
  TITLE     Nanoscale Mobility of the Apo State and TARP Stoichiometry Dictate
            the Gating Behavior of Alternatively Spliced AMPA Receptors
  JOURNAL   Neuron 102 (5), 976-992 (2019)
   PUBMED   31053408
  REMARK    GeneRIF: Nanoscale mobility of resting AMPA receptors predetermines
            responsiveness to neurotransmitter, allosteric anions and TARP
            auxiliary subunits. Mobility at rest is regulated by alternative
            splicing of the flip/flop cassette of the ligand-binding domain,
            which controls motions in the distant AMPA receptor N-terminal
            domain (NTD).
REFERENCE   6  (residues 1 to 836)
  AUTHORS   Higuchi M, Single FN, Kohler M, Sommer B, Sprengel R and Seeburg
            PH.
  TITLE     RNA editing of AMPA receptor subunit GluR-B: a base-paired
            intron-exon structure determines position and efficiency
  JOURNAL   Cell 75 (7), 1361-1370 (1993)
   PUBMED   8269514
REFERENCE   7  (residues 1 to 836)
  AUTHORS   McNamara JO, Eubanks JH, McPherson JD, Wasmuth JJ, Evans GA and
            Heinemann SF.
  TITLE     Chromosomal localization of human glutamate receptor genes
  JOURNAL   J Neurosci 12 (7), 2555-2562 (1992)
   PUBMED   1319477
REFERENCE   8  (residues 1 to 836)
  AUTHORS   Sun W, Ferrer-Montiel AV, Schinder AF, McPherson JP, Evans GA and
            Montal M.
  TITLE     Molecular cloning, chromosomal mapping, and functional expression
            of human brain glutamate receptors
  JOURNAL   Proc Natl Acad Sci U S A 89 (4), 1443-1447 (1992)
   PUBMED   1311100
REFERENCE   9  (residues 1 to 836)
  AUTHORS   Sommer B, Kohler M, Sprengel R and Seeburg PH.
  TITLE     RNA editing in brain controls a determinant of ion flow in
            glutamate-gated channels
  JOURNAL   Cell 67 (1), 11-19 (1991)
   PUBMED   1717158
REFERENCE   10 (residues 1 to 836)
  AUTHORS   Sommer B, Keinanen K, Verdoorn TA, Wisden W, Burnashev N, Herb A,
            Kohler M, Takagi T, Sakmann B and Seeburg PH.
  TITLE     Flip and flop: a cell-specific functional switch in
            glutamate-operated channels of the CNS
  JOURNAL   Science 249 (4976), 1580-1585 (1990)
   PUBMED   1699275
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC112240.4 and AC079233.4.
            On Mar 28, 2020 this sequence version replaced NP_001365929.2.
            
            Summary: Glutamate receptors are the predominant excitatory
            neurotransmitter receptors in the mammalian brain and are activated
            in a variety of normal neurophysiologic processes. This gene
            product belongs to a family of glutamate receptors that are
            sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate
            (AMPA), and function as ligand-activated cation channels. These
            channels are assembled from 4 related subunits, GRIA1-4. The
            subunit encoded by this gene (GRIA2) is subject to RNA editing
            (CAG->CGG; Q->R) within the second transmembrane domain, which is
            thought to render the channel impermeable to Ca(2+). Human and
            animal studies suggest that pre-mRNA editing is essential for brain
            function, and defective GRIA2 RNA editing at the Q/R site may be
            relevant to amyotrophic lateral sclerosis (ALS) etiology.
            Alternative splicing, resulting in transcript variants encoding
            different isoforms, (including the flip and flop isoforms that vary
            in their signal transduction properties), has been noted for this
            gene. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.98577.1,
                                           SRR1803612.229616.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157437, SAMN03465403
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            undergoes RNA editing :: PMID: 8269514, 15006707, 14985749
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..836
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.1"
     Protein         1..836
                     /product="glutamate receptor 2 isoform 4"
                     /note="glutamate receptor 2; AMPA-selective glutamate
                     receptor 2; AMPA receptor subunit GluA2; glutamate
                     receptor, ionotropic, AMPA 2"
                     /calculated_mol_wt=93587
     Region          1..351
                     /region_name="Periplasmic_Binding_Protein_type1"
                     /note="Type 1 periplasmic binding fold superfamily;
                     cl10011"
                     /db_xref="CDD:447875"
     Region          366..747
                     /region_name="PBP2_iGluR_AMPA"
                     /note="The ligand-binding domain of the AMPA
                     (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic
                     acid) subtypes of ionotropic glutamate receptors, a member
                     of the type 2 periplasmic binding fold protein
                     superfamily; cd13715"
                     /db_xref="CDD:270433"
     Site            order(405,409,456..457,460,465..468,703,721..722,725..730,
                     732,735)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:270433"
     Site            order(424,452..454,459,624,627..629,678..679,682,706)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:270433"
     Site            order(467..471,725,728,733..734,737)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:270433"
     CDS             1..836
                     /gene="GRIA2"
                     /gene_synonym="GluA2; gluR-2; gluR-B; GluR-K2; GLUR2;
                     GLURB; HBGR2; NEDLIB"
                     /coded_by="NM_001379000.3:79..2589"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS93659.1"
                     /db_xref="GeneID:2891"
                     /db_xref="HGNC:HGNC:4572"
                     /db_xref="MIM:138247"
ORIGIN      
        1 mvqfstsefr ltphidnlev ansfavtnaf csqfsrgvya ifgfydkksv ntitsfcgtl
       61 hvsfitpsfp tdgthpfviq mrpdlkgall slieyyqwdk faylydsdrg lstlqavlds
      121 aaekkwqvta invgninndk kdemyrslfq dlelkkerrv ildcerdkvn divdqvitig
      181 khvkgyhyii anlgftdgdl lkiqfgganv sgfqivdydd slvskfierw stleekeypg
      241 ahtttikyts altydavqvm teafrnlrkq rieisrrgna gdclanpavp wgqgveiera
      301 lkqvqvegls gnikfdqngk rinytinime lktngprkig ywsevdkmvv tltelpsgnd
      361 tsglenktvv vttilespyv mmkknhemle gneryegycv dlaaeiakhc gfkykltivg
      421 dgkygardad tkiwngmvge lvygkadiai apltitlvre evidfskpfm slgisimikk
      481 pqkskpgvfs fldplayeiw mcivfayigv svvlflvsrf spyewhteef edgretqsse
      541 stnefgifns lwfslgafmq qgcdisprsl sgrivggvww fftliiissy tanlaafltv
      601 ermvspiesa edlskqteia ygtldsgstk effrrskiav fdkmwtymrs aepsvfvrtt
      661 aegvarvrks kgkyaylles tmneyieqrk pcdtmkvggn ldskgygiat pkgsslrnav
      721 nlavlklneq glldklknkw wydkgecgsg ggdskektsa lslsnvagvf yilvgglgla
      781 mlvaliefcy ksraeakrmk vaknaqninp sssqnsqnfa tykegynvyg iesvki
//
LOCUS       NP_002610                101 aa            linear   PRI 22-JAN-2023
DEFINITION  platelet factor 4 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_002610
VERSION     NP_002610.1
DBSOURCE    REFSEQ: accession NM_002619.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 101)
  AUTHORS   Pietraforte I, Butera A, Gaddini L, Mennella A, Palazzo R,
            Campanile D, Stefanantoni K, Riccieri V, Lande R and Frasca L.
  TITLE     CXCL4-RNA Complexes Circulate in Systemic Sclerosis and Amplify
            Inflammatory/Pro-Fibrotic Responses by Myeloid Dendritic Cells
  JOURNAL   Int J Mol Sci 24 (1), 653 (2022)
   PUBMED   36614095
  REMARK    GeneRIF: CXCL4-RNA Complexes Circulate in Systemic Sclerosis and
            Amplify Inflammatory/Pro-Fibrotic Responses by Myeloid Dendritic
            Cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 101)
  AUTHORS   Le HT, Golla K, Karimi R, Hughes MR, Lakschevitz F, Cines DB,
            Kowalska MA, Poncz M, McNagny KM, Hakkinen L and Kim H.
  TITLE     Platelet factor 4 (CXCL4/PF4) upregulates matrix
            metalloproteinase-2 (MMP-2) in gingival fibroblasts
  JOURNAL   Sci Rep 12 (1), 18636 (2022)
   PUBMED   36329090
  REMARK    GeneRIF: Platelet factor 4 (CXCL4/PF4) upregulates matrix
            metalloproteinase-2 (MMP-2) in gingival fibroblasts.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 101)
  AUTHORS   Urban-Solano A, Flores-Gonzalez J, Cruz-Lagunas A, Perez-Rubio G,
            Buendia-Roldan I, Ramon-Luing LA and Chavez-Galan L.
  TITLE     High levels of PF4, VEGF-A, and classical monocytes correlate with
            the platelets count and inflammation during active tuberculosis
  JOURNAL   Front Immunol 13, 1016472 (2022)
   PUBMED   36325331
  REMARK    GeneRIF: High levels of PF4, VEGF-A, and classical monocytes
            correlate with the platelets count and inflammation during active
            tuberculosis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 101)
  AUTHORS   Soliman SA, Haque A, Vanarsa K, Zhang T, Ismail F, Lee KH, Pedroza
            C, Greenbaum LA, Mason S, Hicks MJ, Wenderfer SE and Mohan C.
  TITLE     Urine ALCAM, PF4 and VCAM-1 Surpass Conventional Metrics in
            Identifying Nephritis Disease Activity in Childhood-Onset Systemic
            Lupus Erythematosus
  JOURNAL   Front Immunol 13, 885307 (2022)
   PUBMED   35720325
  REMARK    GeneRIF: Urine ALCAM, PF4 and VCAM-1 Surpass Conventional Metrics
            in Identifying Nephritis Disease Activity in Childhood-Onset
            Systemic Lupus Erythematosus.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 101)
  AUTHORS   Love MS, Millholland MG, Mishra S, Kulkarni S, Freeman KB, Pan W,
            Kavash RW, Costanzo MJ, Jo H, Daly TM, Williams DR, Kowalska MA,
            Bergman LW, Poncz M, DeGrado WF, Sinnis P, Scott RW and Greenbaum
            DC.
  TITLE     Platelet factor 4 activity against P. falciparum and its
            translation to nonpeptidic mimics as antimalarials
  JOURNAL   Cell Host Microbe 12 (6), 815-823 (2012)
   PUBMED   23245326
  REMARK    GeneRIF: Platelet factor 4 exhibits antimicrobial activity against
            Plasmodium falciparum.
REFERENCE   6  (residues 1 to 101)
  AUTHORS   Eisman R, Surrey S, Ramachandran B, Schwartz E and Poncz M.
  TITLE     Structural and functional comparison of the genes for human
            platelet factor 4 and PF4alt
  JOURNAL   Blood 76 (2), 336-344 (1990)
   PUBMED   1695112
REFERENCE   7  (residues 1 to 101)
  AUTHORS   Poncz,M., Surrey,S., LaRocco,P., Weiss,M.J., Rappaport,E.F.,
            Conway,T.M. and Schwartz,E.
  TITLE     Cloning and characterization of platelet factor 4 cDNA derived from
            a human erythroleukemic cell line
  JOURNAL   Blood 69 (1), 219-223 (1987)
   PUBMED   3098319
REFERENCE   8  (residues 1 to 101)
  AUTHORS   Walz,D.A., Wu,V.Y., de Lamo,R., Dene,H. and McCoy,L.E.
  TITLE     Primary structure of human platelet factor 4
  JOURNAL   Thromb Res 11 (6), 893-898 (1977)
   PUBMED   601757
REFERENCE   9  (residues 1 to 101)
  AUTHORS   Deuel,T.F., Keim,P.S., Farmer,M. and Heinrikson,R.L.
  TITLE     Amino acid sequence of human platelet factor 4
  JOURNAL   Proc Natl Acad Sci U S A 74 (6), 2256-2258 (1977)
   PUBMED   267922
REFERENCE   10 (residues 1 to 101)
  AUTHORS   Nath,N., Lowery,C.T. and Niewiarowski,S.
  TITLE     Antigenic and antiheparin properties of human platelet factor 4
            (PF4)
  JOURNAL   Blood 45 (4), 537-550 (1975)
   PUBMED   803847
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC097709.3, M25897.1 and
            GD143506.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the CXC chemokine family.
            This chemokine is released from the alpha granules of activated
            platelets in the form of a homotetramer which has high affinity for
            heparin and is involved in platelet aggregation. This protein is
            chemotactic for numerous other cell type and also functions as an
            inhibitor of hematopoiesis, angiogenesis and T-cell function. The
            protein also exhibits antimicrobial activity against Plasmodium
            falciparum. [provided by RefSeq, Oct 2014].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the shorter isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138524.751162.1,
                                           DRR138524.143180.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2146236,
                                           SAMN03465405 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000296029.4/
                                                  ENSP00000296029.3
            Protein has antimicrobial activity :: PMID: 23245326
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..101
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     Protein         1..101
                     /product="platelet factor 4 isoform 1 precursor"
                     /note="chemokine (C-X-C motif) ligand 4; iroplact;
                     oncostatin-A; C-X-C motif chemokine 4"
                     /calculated_mol_wt=7769
     sig_peptide     1..31
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3094
     mat_peptide     32..101
                     /product="Platelet factor 4"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     23245326]"
                     /calculated_mol_wt=7769
     Region          38..100
                     /region_name="Chemokine_CXC"
                     /note="1 of 4 subgroup designations based on the
                     arrangement of the two N-terminal cysteine residues;
                     includes a number of secreted growth factors and
                     interferons involved in mitogenic, chemotactic, and
                     inflammatory activity; many members contain an RCxC
                     motif...; cd00273"
                     /db_xref="CDD:238171"
     Site            order(38..40,46,50..55,64..66,76..77,80..82,88,93)
                     /site_type="active"
                     /note="receptor binding site [active]"
                     /db_xref="CDD:238171"
     Site            38..40
                     /site_type="active"
                     /note="ELR motif [active]"
                     /db_xref="CDD:238171"
     Site            order(39,42,55..56,59..61,71..74,76,80..81,84,91,95,
                     98..99)
                     /site_type="other"
                     /note="tetramer interface [polypeptide binding]"
                     /db_xref="CDD:238171"
     Site            order(39,42,59,61,71,73,76,80..81)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:238171"
     Site            order(40..41,43)
                     /site_type="active"
                     /note="RCXC motif [active]"
                     /db_xref="CDD:238171"
     Site            order(42..48,50..55)
                     /site_type="active"
                     /note="N-loop [active]"
                     /db_xref="CDD:238171"
     Site            order(44..45,47,50,54,73,76,80,82)
                     /site_type="active"
                     /note="receptor binding cleft [active]"
                     /db_xref="CDD:238171"
     mat_peptide     48..101
                     /product="Platelet factor 4, short form"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     23245326]"
                     /calculated_mol_wt=6033
     Site            order(51,53,87,90,92..95,97,100)
                     /site_type="other"
                     /note="glycosaminoglycan (GAG) binding site [chemical
                     binding]"
                     /db_xref="CDD:238171"
     Site            order(53,56,75,77,80..81)
                     /site_type="other"
                     /note="putative glycosaminoglycan (GAG) binding site
                     [chemical binding]"
                     /db_xref="CDD:238171"
     Site            order(55..56,60,72,74,84,91,95,98..99)
                     /site_type="other"
                     /note="dimer interface (I form) [polypeptide binding]"
                     /db_xref="CDD:238171"
     Site            64..66
                     /site_type="other"
                     /note="30s-loop"
                     /db_xref="CDD:238171"
     Site            64..66
                     /site_type="other"
                     /note="GPH motif"
                     /db_xref="CDD:238171"
     Site            77..79
                     /site_type="other"
                     /note="40s-loop"
                     /db_xref="CDD:238171"
     Region          92..98
                     /region_name="Heparin-binding"
                     /experiment="experimental evidence, no additional details
                     recorded"
     CDS             1..101
                     /gene="PF4"
                     /gene_synonym="CXCL4; PF-4; SCYB4"
                     /coded_by="NM_002619.4:75..380"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS3562.1"
                     /db_xref="GeneID:5196"
                     /db_xref="HGNC:HGNC:8861"
                     /db_xref="MIM:173460"
ORIGIN      
        1 mssaagfcas rpgllflgll llplvvafas aeaeedgdlq clcvkttsqv rprhitslev
       61 ikagphcpta qliatlkngr kicldlqapl ykkiikklle s
//
LOCUS       NP_001018170             445 aa            linear   PRI 30-JAN-2023
DEFINITION  NEDD8-activating enzyme E1 regulatory subunit isoform c [Homo
            sapiens].
ACCESSION   NP_001018170
VERSION     NP_001018170.1
DBSOURCE    REFSEQ: accession NM_001018160.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 445)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 445)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 445)
  AUTHORS   Yang Z, Zhang J, Lin X, Wu D, Li G, Zhong C, Fang L, Jiang P, Yin
            L, Zhang L, Bie P and Xie CM.
  TITLE     Inhibition of neddylation modification by MLN4924 sensitizes
            hepatocellular carcinoma cells to sorafenib
  JOURNAL   Oncol Rep 41 (6), 3257-3269 (2019)
   PUBMED   31002342
  REMARK    GeneRIF: it was demonstrated that high expression of neddylation
            components, neural precursor cell expressed, developmentally
            downregulated 8 (NEDD8) and NEDD8activating enzyme 1 (NAE1), were
            associated with poor survival of patients with hepatocellular
            carcinoma (HCC)
REFERENCE   4  (residues 1 to 445)
  AUTHORS   Jin Y, Zhang P, Wang Y, Jin B, Zhou J, Zhang J and Pan J.
  TITLE     Neddylation Blockade Diminishes Hepatic Metastasis by Dampening
            Cancer Stem-Like Cells and Angiogenesis in Uveal Melanoma
  JOURNAL   Clin Cancer Res 24 (15), 3741-3754 (2018)
   PUBMED   29233905
  REMARK    GeneRIF: NAE1 expression was readily detectable in Uveal Melanoma.
            Inhibition of the neddylation pathway by MLN4924 repressed the
            cancer stem-like cells properties in Uveal Melanoma
REFERENCE   5  (residues 1 to 445)
  AUTHORS   Li H, Zhou W, Li L, Wu J, Liu X, Zhao L, Jia L and Sun Y.
  TITLE     Inhibition of Neddylation Modification Sensitizes Pancreatic Cancer
            Cells to Gemcitabine
  JOURNAL   Neoplasia 19 (6), 509-518 (2017)
   PUBMED   28535453
  REMARK    GeneRIF: Here we report that high expression of neddylation
            components, NEDD8 and NAE1, are associated with poor survival of
            Pancreatic ductal adenocarcinoma patients. Blockage of neddylation
            by MLN4924 significantly sensitizes pancreatic cancer cells to
            gemcitabine, reduced clonogenic survival, decreased invasion
            capacity, increased apoptosis and senescence
REFERENCE   6  (residues 1 to 445)
  AUTHORS   Chen Y, McPhie DL, Hirschberg J and Neve RL.
  TITLE     The amyloid precursor protein-binding protein APP-BP1 drives the
            cell cycle through the S-M checkpoint and causes apoptosis in
            neurons
  JOURNAL   J Biol Chem 275 (12), 8929-8935 (2000)
   PUBMED   10722740
REFERENCE   7  (residues 1 to 445)
  AUTHORS   Hori T, Osaka F, Chiba T, Miyamoto C, Okabayashi K, Shimbara N,
            Kato S and Tanaka K.
  TITLE     Covalent modification of all members of human cullin family
            proteins by NEDD8
  JOURNAL   Oncogene 18 (48), 6829-6834 (1999)
   PUBMED   10597293
REFERENCE   8  (residues 1 to 445)
  AUTHORS   Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J,
            Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y,
            Xu RX, Kang HL, Mitchell S, Eichler EE, Harris PC, Venter JC and
            Adams MD.
  TITLE     Genome duplications and other features in 12 Mb of DNA sequence
            from human chromosome 16p and 16q
  JOURNAL   Genomics 60 (3), 295-308 (1999)
   PUBMED   10493829
REFERENCE   9  (residues 1 to 445)
  AUTHORS   Gong L and Yeh ET.
  TITLE     Identification of the activating and conjugating enzymes of the
            NEDD8 conjugation pathway
  JOURNAL   J Biol Chem 274 (17), 12036-12042 (1999)
   PUBMED   10207026
REFERENCE   10 (residues 1 to 445)
  AUTHORS   Chow N, Korenberg JR, Chen XN and Neve RL.
  TITLE     APP-BP1, a novel protein that binds to the carboxyl-terminal region
            of the amyloid precursor protein
  JOURNAL   J Biol Chem 271 (19), 11339-11346 (1996)
   PUBMED   8626687
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM785899.1 and BC000480.2.
            
            Summary: The protein encoded by this gene binds to the beta-amyloid
            precursor protein. Beta-amyloid precursor protein is a cell surface
            protein with signal-transducing properties, and it is thought to
            play a role in the pathogenesis of Alzheimer's disease. In
            addition, the encoded protein can form a heterodimer with UBE1C and
            bind and activate NEDD8, a ubiquitin-like protein. This protein is
            required for cell cycle progression through the S/M checkpoint.
            Three transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) lacks an alternate exon
            compared to variant 1. The resulting isoform (c) is shorter at the
            N-terminus compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.201597.1,
                                           SRR3476690.970425.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..445
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     Protein         1..445
                     /product="NEDD8-activating enzyme E1 regulatory subunit
                     isoform c"
                     /note="amyloid beta precursor protein-binding protein 1,
                     59kD; amyloid beta precursor protein binding protein 1,
                     59kDa; NEDD8-activating enzyme E1 subunit; amyloid
                     protein-binding protein 1; NEDD8-activating enzyme E1
                     regulatory subunit; protooncogene protein 1; APP-BP1;
                     proto-oncogene protein 1; amyloid beta precursor
                     protein-binding protein 1, 59 kDa"
                     /calculated_mol_wt=50494
     Region          1..443
                     /region_name="APPBP1_RUB"
                     /note="Ubiquitin activating enzyme (E1) subunit APPBP1.
                     APPBP1 is part of the heterodimeric activating enzyme
                     (E1), specific for the Rub family of ubiquitin-like
                     proteins (Ubls). E1 enzymes are part of a conjugation
                     cascade to attach Ub or Ubls, covalently to...; cd01493"
                     /db_xref="CDD:238770"
     Region          <321..>424
                     /region_name="Ube1"
                     /note="ubiquitin-activating enzyme E1; TIGR01408"
                     /db_xref="CDD:273603"
     CDS             1..445
                     /gene="NAE1"
                     /gene_synonym="A-116A10.1; APPBP1; HPP1; NEDFIH; ula-1"
                     /coded_by="NM_001018160.2:241..1578"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS42172.1"
                     /db_xref="GeneID:8883"
                     /db_xref="HGNC:HGNC:621"
                     /db_xref="MIM:603385"
ORIGIN      
        1 meflqelnsd vsgsfveesp enlldndpsf fcrftvvvat qlpestslrl advlwnsqip
       61 llicrtyglv gymriiikeh pvieshpdna ledlrldkpf pelrehfqsy dldhmekkdh
      121 shtpwiviia kylaqwyset ngripktyke kedfrdlirq gilknengap edeenfeeai
      181 knvntalntt qipssiedif nddrcinitk qtpsfwilar alkefvakeg qgnlpvrgti
      241 pdmiadsgky iklqnvyrek akkdaaavgn hvakllqsig qapesiseke lkllcsnsaf
      301 lrvvrcrsla eeygldtink deiissmdnp dneivlylml ravdrfhkqq grypgvsnyq
      361 veedigklks cltgflqeyg lsvmvkddyv hefcrygaae phtiaaflgg aaaqevikii
      421 tkqfvifnnt yiysgmsqts atfql
//
LOCUS       NP_001361651            7794 aa            linear   PRI 14-FEB-2023
DEFINITION  dystonin isoform 6 [Homo sapiens].
ACCESSION   NP_001361651
VERSION     NP_001361651.1
DBSOURCE    REFSEQ: accession NM_001374722.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 7794)
  AUTHORS   Ujiie H.
  TITLE     What's new in the pathogeneses and triggering factors of bullous
            pemphigoid
  JOURNAL   J Dermatol 50 (2), 140-149 (2023)
   PUBMED   36412277
  REMARK    GeneRIF: What's new in the pathogeneses and triggering factors of
            bullous pemphigoid.
            Review article
REFERENCE   2  (residues 1 to 7794)
  AUTHORS   Khalesi R, Harvey N, Garshasbi M, Kalamati E, Youssefian L,
            Vahidnezhad H and Uitto J.
  TITLE     Pathogenic DST sequence variants result in either epidermolysis
            bullosa simplex (EBS) or hereditary sensory and autonomic
            neuropathy type 6 (HSAN-VI)
  JOURNAL   Exp Dermatol 31 (6), 949-955 (2022)
   PUBMED   35276021
  REMARK    GeneRIF: Pathogenic DST sequence variants result in either
            epidermolysis bullosa simplex (EBS) or hereditary sensory and
            autonomic neuropathy type 6 (HSAN-VI).
REFERENCE   3  (residues 1 to 7794)
  AUTHORS   Wen D, Balacco DL, Bardhan A, Harper N, Walsh D, Ryan G, Liu L, Guy
            A, McGrath JA, Ogboli M and Heagerty AHM.
  TITLE     Localized autosomal recessive epidermolysis bullosa simplex arising
            from a novel homozygous frameshift mutation in DST (BPAG1)
  JOURNAL   Clin Exp Dermatol 47 (2), 497-502 (2022)
   PUBMED   34806203
REFERENCE   4  (residues 1 to 7794)
  AUTHORS   Steiner-Champliaud MF, Schneider Y, Favre B, Paulhe F,
            Praetzel-Wunder S, Faulkner G, Konieczny P, Raith M, Wiche G,
            Adebola A, Liem RK, Langbein L, Sonnenberg A, Fontao L and
            Borradori L.
  TITLE     BPAG1 isoform-b: complex distribution pattern in striated and heart
            muscle and association with plectin and alpha-actinin
  JOURNAL   Exp Cell Res 316 (3), 297-313 (2010)
   PUBMED   19932097
  REMARK    GeneRIF: BPAG1-b was detectable in vitro and in vivo as a high
            molecular mass protein in striated and heart muscle cells,
            co-localizing with alpha-actinin-2 and partially with the
            cytolinker plectin as well as with the intermediate filament
            protein desmin.
REFERENCE   5  (residues 1 to 7794)
  AUTHORS   Okumura M, Yamakawa H, Ohara O and Owaribe K.
  TITLE     Novel alternative splicings of BPAG1 (bullous pemphigoid antigen 1)
            including the domain structure closely related to MACF (microtubule
            actin cross-linking factor)
  JOURNAL   J Biol Chem 277 (8), 6682-6687 (2002)
   PUBMED   11751855
REFERENCE   6  (residues 1 to 7794)
  AUTHORS   Brown A, Dalpe G, Mathieu M and Kothary R.
  TITLE     Cloning and characterization of the neural isoforms of human
            dystonin
  JOURNAL   Genomics 29 (3), 777-780 (1995)
   PUBMED   8575775
REFERENCE   7  (residues 1 to 7794)
  AUTHORS   So,J.Y. and Teng,J.
  TITLE     Epidermolysis Bullosa Simplex
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301543
REFERENCE   8  (residues 1 to 7794)
  AUTHORS   Sawamura D, Li K, Chu ML and Uitto J.
  TITLE     Human bullous pemphigoid antigen (BPAG1). Amino acid sequences
            deduced from cloned cDNAs predict biologically important peptide
            segments and protein domains
  JOURNAL   J Biol Chem 266 (27), 17784-17790 (1991)
   PUBMED   1717441
REFERENCE   9  (residues 1 to 7794)
  AUTHORS   Tanaka T, Parry DA, Klaus-Kovtun V, Steinert PM and Stanley JR.
  TITLE     Comparison of molecularly cloned bullous pemphigoid antigen to
            desmoplakin I confirms that they define a new family of cell
            adhesion junction plaque proteins
  JOURNAL   J Biol Chem 266 (19), 12555-12559 (1991)
   PUBMED   1712022
REFERENCE   10 (residues 1 to 7794)
  AUTHORS   Sawamura D, Nomura K, Sugita Y, Mattei MG, Chu ML, Knowlton R and
            Uitto J.
  TITLE     Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the
            gene to the short arm of human chromosome 6
  JOURNAL   Genomics 8 (4), 722-726 (1990)
   PUBMED   2276744
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590037.7, AL512422.19,
            AL590005.6, AL096710.8, AL512448.9 and AL137008.9.
            
            Summary: This gene encodes a member of the plakin protein family of
            adhesion junction plaque proteins. Multiple alternatively spliced
            transcript variants encoding distinct isoforms have been found for
            this gene, but the full-length nature of some variants has not been
            defined. It has been reported that some isoforms are expressed in
            neural and muscle tissue, anchoring neural intermediate filaments
            to the actin cytoskeleton, and some isoforms are expressed in
            epithelial tissue, anchoring keratin-containing intermediate
            filaments to hemidesmosomes. Consistent with the expression, mice
            defective for this gene show skin blistering and neurodegeneration.
            [provided by RefSeq, Mar 2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..7794
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.1"
     Protein         1..7794
                     /product="dystonin isoform 6"
                     /note="hemidesmosomal plaque protein; trabeculin-beta;
                     dystonia musculorum protein; bullous pemphigoid antigen;
                     bullous pemphigoid antigen 1"
                     /calculated_mol_wt=885623
     Region          201..358
                     /region_name="CH_SF"
                     /note="calponin homology (CH) domain superfamily; cl00030"
                     /db_xref="CDD:444660"
     Site            order(219,302,304..305,308..309,311,324..328,333,335..336,
                     338..339,342..343,346)
                     /site_type="other"
                     /note="actin binding site [polypeptide binding]"
                     /db_xref="CDD:409031"
     Region          363..466
                     /region_name="CH_DYST_rpt2"
                     /note="second calponin homology (CH) domain found in
                     dystonin and similar proteins; cd21239"
                     /db_xref="CDD:409088"
     Site            order(364,368,418,420..421,424..425,427,435..443,450,
                     452..453,455..456,459..460,463)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409088"
     Region          819..910
                     /region_name="SPEC"
                     /note="Spectrin repeats; smart00150"
                     /db_xref="CDD:197544"
     Region          912..1094
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1015..1020
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1087..1153
                     /region_name="SH3_10"
                     /note="SH3 domain; pfam17902"
                     /db_xref="CDD:407754"
     Region          1188..1265
                     /region_name="Spectrin_like"
                     /note="Spectrin like domain; pfam18373"
                     /db_xref="CDD:436447"
     Region          <1205..1480
                     /region_name="SCP-1"
                     /note="Synaptonemal complex protein 1 (SCP-1); pfam05483"
                     /db_xref="CDD:114219"
     Region          1405..1569
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Site            1499..1504
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1763..1794
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          1797..1835
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          1872..1909
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          1986..2024
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          2062..2100
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3445..4110
                     /region_name="SCP-1"
                     /note="Synaptonemal complex protein 1 (SCP-1); pfam05483"
                     /db_xref="CDD:114219"
     Region          3831..4631
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          4135..4364
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            4253..4258
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          4725..4946
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            4834..4839
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          4951..5165
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            order(5055,5057..5061)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          5167..5378
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            5271..5276
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          5493..5708
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            5601..5606
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          5607..5820
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            5710..5715
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          5714..5929
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            5819..5824
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          5931..6146
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            order(6037,6039..6043)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          6042..6255
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            6146..6151
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          6152..6368
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            order(6254..6258,6260)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          6370..6587
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            6476..6481
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          6482..6696
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            order(6586..6590,6592)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          6590..6805
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            6695..6700
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          6698..6914
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            order(6804..6807,6809..6810)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          6916..7132
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            7023..7028
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          7029..7241
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            7131..7136
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          7412..7474
                     /region_name="EFh"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     cd00051"
                     /db_xref="CDD:238008"
     Site            order(7421,7423,7425,7432,7457,7459,7461,7468)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238008"
     Region          7487..7565
                     /region_name="GAS2"
                     /note="Growth-Arrest-Specific Protein 2 Domain;
                     smart00243"
                     /db_xref="CDD:128539"
     CDS             1..7794
                     /gene="DST"
                     /gene_synonym="BP240; BPA; BPAG1; CATX-15; CATX15;
                     D6S1101; DMH; DT; EBS3; EBSB2; HSAN6; MACF2"
                     /coded_by="NM_001374722.1:244..23628"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="GeneID:667"
                     /db_xref="HGNC:HGNC:1090"
                     /db_xref="MIM:113810"
ORIGIN      
        1 miaaaflvll rpysiqcalf llllllgtia tivffccwhr klqkgrhpmk svfsgrsrsr
       61 davlrshhfr segfrasprh lrrrvaaaaa arleevkpvv evhhqseqet svrkrrikks
      121 srvqpefyhs vqgasirrps sgnasyrcsm sssadfsded dfsqksgsas papgdtlpwn
      181 lpkherskrk iqggsvldpa eravlriade rdkvqkktft kwinqhlmkv rkhvndlyed
      241 lrdghnlisl levlsgdtlp rerdflktlr lvsateacey eqhedveded kgprekgrmr
      301 fhrlqnvqia ldylkrrqvk lvnirnddit dgnpkltlgl iwtiilhfqi sdihvtgese
      361 dmsakerlll wtqqategya gircenfttc wrdgklfnai ihkyrpdlid mntvavqsnl
      421 anlehafyva ekigvirlld pedvdvsspd eksvityvss lydafpkvpe ggegigandv
      481 evkwieyqnm vnyliqwirh hvttmsertf pnnpvelkal ynqylqfket eippketeks
      541 kikrlyklle iwiefgrikl lqgyhpndie kewgkliiam lerekalrpe verlemlqqi
      601 anrvqrdsvi cedklilagn alqsdskrle sgvqfqneae iagyilecen llrqhvidvq
      661 ilidgkyyqa dqlvqrvakl rdeimalrne cssvyskgri ltteqtklmi sgitqslnsg
      721 faqtlhpslt sgltqsltps ltsssmtsgl ssgmtsrltp svtpaytpgf psglvpnfss
      781 gvepnslqtl klmqirkpll ksslldqnlt eeeinmkfvq dllnwvdemq vqldrtewgs
      841 dlpsveshle nhknvhraie efesslkeak iseiqmtapl kltyaeklhr lesqyaklln
      901 tsrnqerhld tlhnfvsrat neliwlneke eeevaydwse rntniarkkd yhaelmreld
      961 qkeeniksvq eiaeqlllen hparltieay raamqtqwsw ilqlcqcveq hikentayfe
     1021 ffndakeatd ylrnlkdaiq rkyscdrsss ihkledlvqe smeekeellq ykstianlmg
     1081 kaktiiqlkp rnsdcplkts ipikaicdyr qieitiykdd ecvlannshr akwkvisptg
     1141 neamvpsvcf tvpppnkeav dlanrieqqy qnvltlwhes hinmksvvsw hylineidri
     1201 rasnvasikt mlpgehqqvl snlqsrfedf ledsqesqvf sgsditqlek evnvckqyyq
     1261 ellksaeree qeesvynlyi sevrnirlrl encedrlirq irtplerddl hesvfriteq
     1321 eklkkelerl kddlgtitnk ceeffsqaaa sssvptlrse lnvvlqnmnq vysmsstyid
     1381 klktvnlvlk ntqaaealvk lyetklceee aviadknnie nlistlkqwr sevdekrqvf
     1441 haledelqka kaisdemfkt ykerdldfdw hkekadqlve rwqnvhvqid nrlrdlegig
     1501 kslkyyrdty hplddwiqqv ettqrkiqen qpensktlat qlnqqkmlvs eiemkqskmd
     1561 ecqkyaeqys atvkdyelqt mtyramvdsq qkspvkrrrm qssadliiqe fmdlrtryta
     1621 lvtlmtqyik fagdslkrle eeeksleeek kehvekakel qkwvsniskt lkdaekagkp
     1681 pfskqkisse eistkkeqls ealqtiqlfl akhgdkmtde ernelekqvk tlqesynllf
     1741 seslkqlqes qtsgdvkvee kldkviagti dqttgevlsv fqavlrglid ydtgirllet
     1801 qlmisglisp elrkcfdlkd akshglideq ilcqlkelsk akeiisaasp ttipvldala
     1861 qsmitesmai kvleillstg slvipatgeq ltlqkafqqn lvssalfskv lerqnmckdl
     1921 idpctsekvs lidmvqrstl qentgmwllp vrpqeggrit lkcgrnisil raaheglidr
     1981 etmfrllsaq llsgglinsn sgqrmtveea vregvidrdt assiltyqvq tggiiqsnpa
     2041 krltvdeavq cdlitsssal lvleaqrgyv gliwphsgei fptssslqqe litnelayki
     2101 lngrqkiaal yipessqvig ldaakqlgii dnntasilkn itlpdkmpdl gdleacknar
     2161 rwlsfckfqp stvhdyrqee dvfdgeepvt tqtseetkkl flsylminsy mdantgqrll
     2221 lydgdldeav gmllegchae fdgntaikec ldvlsssgvf lnnasgrekd ectatpssfn
     2281 kchcgepehe etpenrkcai deefnemrnt vinsefsqsg klastisidp kvnsspsvcv
     2341 pslisyltqt eladismlrs dseniltnye nqsrvetner anecshskni qnfpsdlien
     2401 pimkskmskf cgvnetened ntnrdspifd ysprlsalls hdklmhsqgs fndthtpesn
     2461 gnkceapals fsdktmlsgq rigekfqdqf lgiaainisl pgeqygqksl nmissnpqvq
     2521 yhndkyisnt sgedekthpg fqqmpedked eseieeysca vtpggdtdna ivsltcatpl
     2581 ldetisasdy etsllndqqn ntgtdtdsdd dfydtplfed ddhdsllldg ddrdclhped
     2641 ydtlqeende taspadvfyd vskenensmv pqgapvgsls vknkahclqd flmdvekdel
     2701 dsgekihlnp vgsdkvngqs letgserect nilegdesds ltdydivggk esftaslkfd
     2761 dsgswrgrke eyvtgqefhs dtdhldsmqs eesygdyiyd sndqdddddd gideegggir
     2821 dengkprcqn vaedmdiqlc asilnensde nenintmill dkmhscssle kqqrvnvvql
     2881 aspsennlvt eksnlpeytt eiagkskenl lnhemvlkdv lppiikdtes ektfgpasis
     2941 hdnnnissts elgtdlantk vkliqgselp eltdsvkgkd eyfknmtpkv dssldhiict
     3001 epdligkpae eshlsliasv tdkdpqgngs dlikgrdgks diliedetsi qkmylgegev
     3061 lveglveeen rhlkllpgkn trdsfklins qfpfpqitnn eelnqkgslk katvtlkdep
     3121 nnlqiivsks pvqfenleei fdtsvskeis dditsditsw egnthfeesf tdgpekeldl
     3181 ftylkhcakn ikakdvakpn edvpshvlit appmkehlql gvnntkekst stqkdsplnd
     3241 miqsndlcsk esisgggtei sqftpesiea tlsilsrkhv edvgkndflq sercanglgn
     3301 dnssntlntd ysfleinnkk erieqqlpke qalsprsqek evqipelsqv fvedvkdilk
     3361 srlkeghmnp qeveepsaca dtkiliqnli krittsqlvn eastvpsdsq msdssgvspm
     3421 tnsselkpes rddpfcignl kselllnilk qdqhsqkitg vfelmrelth meydlekrgi
     3481 tskvlplqle nifyklladg ysekiehvgd fnqkacstse mmeekphilg dikskegnyy
     3541 spnletvkei glesstvwas tlprdeklkd lcndfpshle ctsgskemas gdssteqfss
     3601 elqqclqhte kmheyltllq dmkppldnqe sldnnlealk nqlrqletfe lglapiavil
     3661 rkdmklaeef lkslpsdfpr ghveelsish qslktafssl snvssertkq imlaidsems
     3721 klavsheefl hklksfsdwv seksksvkdi eivnvqdsey vkkrleflkn vlkdlghtkm
     3781 qlettafdvq ffiseyaqdl spnqskqllr llnttqkcfl dvqesvttqv erletqlhle
     3841 qdlddqkiva erqqeykekl qgicdlltqt enrlighqea fmigdgtvel kkyqskqeel
     3901 qkdmqgsaqa laevvknten flkengekls qedkalieqk lneakikceq lnlkaeqskk
     3961 eldkvvttai keetekvaav kqleesktki enlldwlsnv dkdseragtk hkqvieqngt
     4021 hfqegdgksa igeedevngn lletdvdgqv gttqenlnqq yqkvkaqhek iisqhqavii
     4081 atqsaqvlle kqgqylspee keklqknmke lkvhyetala esekkmklth slqeelekfd
     4141 adytefehwl qqseqelenl eagaddingl mtklkrqksf sedvishkgd lryitisgnr
     4201 vleaakscsk rdggkvdtsa threvqrkld hatdrfrsly skcnvlgnnl kdlvdkyqhy
     4261 edascgllag lqaceatask hlsepiavdp knlqrqleet kalqgqissq qvaveklkkt
     4321 aevlldargs llpakndiqk tlddivgrye dlsksvnern eklqitltrs lsvqdgldem
     4381 ldwmgnvess lkeqgqvpln stalqdiisk nimleqdiag rqssinamne kvkkfmettd
     4441 pstasslqak mkdlsarfse ashkhketla kmeelktkve lfenlseklq tfletktqal
     4501 tevdvpgkdv telsqymqes tseflehkkh levlhsllke isshglpsdk alvlektnnl
     4561 skkfkemedt ikekkeavts cqeqldafqv lvkslkswik ettkkvpivq psfgaedlgk
     4621 sledtkklqe kwslktpeiq kvnnsgislc nlisavttpa kaiaavksgg avlngegtat
     4681 nteefwankg ltsikkdmtd ishgyedlgl llkdkiaeln tklsklqkaq eessammqwl
     4741 qkmnktatkw qqtpaptdte avktqveqnk sfeaelkqnv nkvqelkdkl telleenpdt
     4801 peaprwkqml teidskwqel nqltidrqqk leessnnltq fqtveaqlkq wlvekelmvs
     4861 vlgplsidpn mlntqrqqvq illqefatrk pqyeqltaag qgilsrpged pslrgivkeq
     4921 laavtqkwds ltgqlsdrcd widqaivkst qyqsllrsls dklsdldnkl ssslavsthp
     4981 damnqqleta qkmkqeiqqe kkqikvaqal cedlsalvke eylkaelsrq legilksfkd
     5041 veqkaenhvq hlqsacassh qfqqmsrdfq awldtkkeeq nkshpisakl dvleslikdh
     5101 kdfsktltaq shmyektiae genlllktqg sekaalqlql ntiktnwdtf nkqvkerenk
     5161 lkeslekalk ykeqvetlwp widkcqnnle eikfcldpae gensiaklks lqkemdqhfg
     5221 mvellnntan sllsvceidk evvtdenksl iqkvdmvteq lhskkfclen mtqkfkefqe
     5281 vskeskrqlq cakeqldihd slgsqaysnk yltmlqtqqk slqalkhqvd lakrlaqdlv
     5341 veasdskgts dvllqvetia qehstlsqqv dekcsfletk lqgighfqnt iremfsqfae
     5401 fddeldsmap vgrdaetlqk qketikaflk klealmasnd nanktckmml ateetspdlv
     5461 gikrdleals kqcnklldra qareeqvegt ikrleefysk lkefsillqk aeeheesqgp
     5521 vgmetetinq qlnmfkvfqk eeieplqgkq qdvnwlgqgl iqsaakstst qglehdlddv
     5581 narwktlnkk vaqraaqlqe allhcgrfqd alesllswmv dteelvanqk ppsaefkvvk
     5641 aqiqeqkllq rllddrkstv evikregeki attaepadkv kilkqlslld srweallnka
     5701 etrnrqlegi svvaqqfhet leplnewltt iekrlvncep igtqasklee qiaqhkaled
     5761 diinhnkhlh qavsigqslk vlssredkdm vqskldfsqv wyieiqeksh srsellqqal
     5821 cnakifgede velmnwlnev hdklsklsvq dysteglwkq qselrvlqed illrkqnvdq
     5881 allnglellk qttgdevlii qdkleaikar ykditklstd vaktleqalq larrlhsthe
     5941 elctwldkve vellsyetqv lkgeeasqaq mrpkelkkea knnkalldsl nevssallel
     6001 vpwraregle kmvaednery rlvsdtitqk veeidaailr sqqfdqaada elswitetek
     6061 klmslgdirl eqdqtsaqlq vqktftmeil rhkdiiddlv ksghkimtac seeekqsmkk
     6121 kldkvlknyd ticqinsery lqleraqslv nqfwetyeel wpwltetqsi isqlpapale
     6181 yetlrqqqee hrqlreliae hkphidkmnk tgpqllelsp gegfsiqeky vaadtlysqi
     6241 kedvkkrava ldeaisqstq fhdkidqile sleriverlr qppsisaeve kikeqisenk
     6301 nvsvdmeklq plyetlkqrg eemiarsggt dkdisakavq dkldqmvfiw enihtlveer
     6361 eaklldvmel aekfwcdhms livtikdtqd firdledpgi dpsvvkqqqe aaetireeid
     6421 glqeeldivi nlgseliaac gepdkpivkk sidelnsawd slnkawkdri dkleeamqaa
     6481 vqyqdglqav fdwvdiaggk lasmspigtd letvkqqiee lkqfkseayq qqiemerlnh
     6541 qaelllkkvt eesdkhtvqd plmelkliwd sleeriinrq hklegallal gqfqhaldel
     6601 lawlthtegl lseqkpvggd pkaieielak hhvlqndvla hqstveavnk agndliessa
     6661 geeasnlqnk levlnqrwqn vlekteqrkq qldgalrqak gfhgeiedlq qwltdterhl
     6721 laskplgglp etakeqlnvh mevcaafeak eetykslmqk gqqmlarcpk saetnidqdi
     6781 nnlkekwesv etklnerktk leealnlame fhnslqdfin wltqaeqtln vasrpslild
     6841 tvlfqidehk vfanevnshr eqiieldktg thlkyfsqkq dvvliknlli svqsrwekvv
     6901 qrlvergrsl ddarkrakqf heawsklmew leesekslds eleiandpdk iktqlaqhke
     6961 fqkslgakhs vydttnrtgr slkektslad dnlklddmls elrdkwdtic gksverqnkl
     7021 eeallfsgqf tdalqalidw lyrvepqlae dqpvhgdidl vmnlidnhka fqkelgkrts
     7081 svqalkrsar eliegsrdds swvkvqmqel strwetvcal siskqtrlea alrqaeefhs
     7141 vvhallewla eaeqtlrfhg vlpddedalr tlidqhkefm kkleekrael nkattmgdtv
     7201 laichpdsit tikhwitiir arfeevlawa kqhqqrlasa lagliakqel leallawlqw
     7261 aettltdkdk evipqeieev kaliaehqtf meemtrkqpd vdkvtktykr raadpsslqs
     7321 hipvldkgra grkrfpassl ypsgsqtqie tknprvnllv skwqqvwlla lerrrklnda
     7381 ldrleelref anfdfdiwrk kymrwmnhkk srvmdffrri dkdqdgkitr qefidgilss
     7441 kfptsrlems avadifdrdg dgyidyyefv aalhpnkday kpitdadkie devtrqvakc
     7501 kcakrfqveq igdnkyrffl gnqfgdsqql rlvrilrstv mvrvgggwma ldeflvkndp
     7561 crakgrtnme lrekfiladg asqgmaafrp rgrrsrpssr gaspnrstsv ssqaaqaasp
     7621 qvpatttpki lhpltrnygk pwltnskmst pckaaecsdf pvpsaegtpi qgsklrlpgy
     7681 lsgkgfhsge dsglittaaa rvrtqfadsk ktpsrpgsra gskagsrass rrgsdasdfd
     7741 iseiqsvcsd vetvpqthrp tpragsrpst akpskiptpq rkspaskldk sskr
//
LOCUS       NP_001276926             286 aa            linear   PRI 11-MAR-2023
DEFINITION  thrombopoietin isoform 4 precursor [Homo sapiens].
ACCESSION   NP_001276926
VERSION     NP_001276926.1
DBSOURCE    REFSEQ: accession NM_001289997.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 286)
  AUTHORS   Kwon SR, Kim MJ, Lee YE, Yun J, Jeong DJ, Park JH, Kwon S and Lee
            DS.
  TITLE     Novel THPO variant in hereditary thrombocytopenia: A potential
            candidate variant for predisposition to myeloid neoplasm
  JOURNAL   PLoS One 17 (12), e0271624 (2022)
   PUBMED   36534659
  REMARK    GeneRIF: Novel THPO variant in hereditary thrombocytopenia: A
            potential candidate variant for predisposition to myeloid neoplasm.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 286)
  AUTHORS   Dordelmann C, Telgmann R, Brand E, Hagedorn C, Schroer B, Hasenkamp
            S, Baumgart P, Kleine-Katthofer P, Paul M and Brand-Herrmann SM.
  TITLE     Functional and structural profiling of the human thrombopoietin
            gene promoter
  JOURNAL   J Biol Chem 283 (36), 24382-24391 (2008)
   PUBMED   18617523
  REMARK    GeneRIF: THPO transcription is cell line-dependently initiated at
            two alternative promoters, which we newly designated P1a and P1
REFERENCE   3  (residues 1 to 286)
  AUTHORS   Ghilardi N, Wiestner A and Skoda RC.
  TITLE     Thrombopoietin production is inhibited by a translational mechanism
  JOURNAL   Blood 92 (11), 4023-4030 (1998)
   PUBMED   9834204
REFERENCE   4  (residues 1 to 286)
  AUTHORS   Wiestner A, Schlemper RJ, van der Maas AP and Skoda RC.
  TITLE     An activating splice donor mutation in the thrombopoietin gene
            causes hereditary thrombocythaemia
  JOURNAL   Nat Genet 18 (1), 49-52 (1998)
   PUBMED   9425899
REFERENCE   5  (residues 1 to 286)
  AUTHORS   Kamura T, Handa H, Hamasaki N and Kitajima S.
  TITLE     Characterization of the human thrombopoietin gene promoter. A
            possible role of an Ets transcription factor, E4TF1/GABP
  JOURNAL   J Biol Chem 272 (17), 11361-11368 (1997)
   PUBMED   9111044
REFERENCE   6  (residues 1 to 286)
  AUTHORS   Gurney AL, Kuang WJ, Xie MH, Malloy BE, Eaton DL and de Sauvage FJ.
  TITLE     Genomic structure, chromosomal localization, and conserved
            alternative splice forms of thrombopoietin
  JOURNAL   Blood 85 (4), 981-988 (1995)
   PUBMED   7849319
REFERENCE   7  (residues 1 to 286)
  AUTHORS   Chang MS, McNinch J, Basu R, Shutter J, Hsu RY, Perkins C, Mar V,
            Suggs S, Welcher A, Li L et al.
  TITLE     Cloning and characterization of the human megakaryocyte growth and
            development factor (MGDF) gene
  JOURNAL   J Biol Chem 270 (2), 511-514 (1995)
   PUBMED   7822271
REFERENCE   8  (residues 1 to 286)
  AUTHORS   Foster DC, Sprecher CA, Grant FJ, Kramer JM, Kuijper JL, Holly RD,
            Whitmore TE, Heipel MD, Bell LA, Ching AF et al.
  TITLE     Human thrombopoietin: gene structure, cDNA sequence, expression,
            and chromosomal localization
  JOURNAL   Proc Natl Acad Sci U S A 91 (26), 13023-13027 (1994)
   PUBMED   7809166
REFERENCE   9  (residues 1 to 286)
  AUTHORS   Sohma Y, Akahori H, Seki N, Hori T, Ogami K, Kato T, Shimada Y,
            Kawamura K and Miyazaki H.
  TITLE     Molecular cloning and chromosomal localization of the human
            thrombopoietin gene
  JOURNAL   FEBS Lett 353 (1), 57-61 (1994)
   PUBMED   7926023
REFERENCE   10 (residues 1 to 286)
  AUTHORS   Bartley TD, Bogenberger J, Hunt P, Li YS, Lu HS, Martin F, Chang
            MS, Samal B, Nichol JL, Swift S et al.
  TITLE     Identification and cloning of a megakaryocyte growth and
            development factor that is a ligand for the cytokine receptor Mpl
  JOURNAL   Cell 77 (7), 1117-1124 (1994)
   PUBMED   8020099
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC078797.20, BC143982.1,
            AK311002.1, U11025.1, L33410.1 and AA479058.1.
            
            Summary: Megakaryocytopoiesis is the cellular development process
            that leads to platelet production. The main functional protein
            encoded by this gene is a humoral growth factor that is necessary
            for megakaryocyte proliferation and maturation, as well as for
            thrombopoiesis. This protein is the ligand for MLP/C_MPL, the
            product of myeloproliferative leukemia virus oncogene. Mutations in
            this gene are the cause of thrombocythemia 1. Alternative promoter
            usage and differential splicing result in multiple transcript
            variants differing in the 5' UTR and/or coding region. Multiple AUG
            codons upstream of the main open reading frame (ORF) have been
            identified, and these upstream AUGs inhibit translation of the main
            ORF at different extent. [provided by RefSeq, Feb 2014].
            
            Transcript Variant: This variant (4) represents use of the
            downstream promoter and comprises six exons. It lacks an internal
            segment in the 3' exon, which results in a frameshift, compared to
            variant 1. The resulting isoform (4) has a shorter and distinct
            C-terminus, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1970526
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            regulatory uORF :: PMID: 9834204
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..286
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.1"
     Protein         1..286
                     /product="thrombopoietin isoform 4 precursor"
                     /note="megakaryocyte stimulating factor; MPL ligand;
                     prepro-thrombopoietin; megakaryocyte colony-stimulating
                     factor; c-mpl ligand; myeloproliferative leukemia virus
                     oncogene ligand; megakaryocyte growth and development
                     factor; thrombopoietin nirs"
                     /calculated_mol_wt=29190
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2373
     mat_peptide     22..286
                     /product="thrombopoietin isoform 4"
                     /calculated_mol_wt=29190
     Region          25..159
                     /region_name="EPO_TPO"
                     /note="Erythropoietin/thrombopoietin; pfam00758"
                     /db_xref="CDD:395615"
     CDS             1..286
                     /gene="THPO"
                     /gene_synonym="MGDF; MKCSF; ML; MPLLG; THCYT1; TPO"
                     /coded_by="NM_001289997.1:280..1140"
                     /note="isoform 4 precursor is encoded by transcript
                     variant 4"
                     /db_xref="CCDS:CCDS77867.1"
                     /db_xref="GeneID:7066"
                     /db_xref="HGNC:HGNC:11795"
                     /db_xref="MIM:600044"
ORIGIN      
        1 meltelllvv mllltarltl sspappacdl rvlskllrds hvlhsrlsqc pevhplptpv
       61 llpavdfslg ewktqmeetk aqdilgavtl llegvmaarg qlgptclssl lgqlsgqvrl
      121 llgalqsllg tqlppqgrtt ahkdpnaifl sfqhllrgkd fwivgdklhc lsqnywlwas
      181 evaagiqsqd swsaepnlqv pgpnpripeq dtrtlewnsw tlswtltqdp rspghflrni
      241 rhrlpatqpp awifsfpnps sywtvyalps sthlahpcgp apppas
//
LOCUS       NP_001075146            1951 aa            linear   PRI 13-MAR-2023
DEFINITION  sodium channel protein type 3 subunit alpha isoform 3 [Homo
            sapiens].
ACCESSION   NP_001075146
VERSION     NP_001075146.1
DBSOURCE    REFSEQ: accession NM_001081677.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1951)
  AUTHORS   Alghamdi MA, Al-Eitan LN, Asiri A, Rababa'h DM, Alqahtani SA,
            Aldarami MS, Alsaeedi MA, Almuidh RS, Alzahrani AA, Sakah AH, El
            Nashar EM, Otaif MY and Abdel Ghaffar NF.
  TITLE     Association of sodium voltage-gated channel genes polymorphisms
            with epilepsy risk and prognosis in the Saudi population
  JOURNAL   Ann Med 54 (1), 1938-1951 (2022)
   PUBMED   35801810
  REMARK    GeneRIF: Association of sodium voltage-gated channel genes
            polymorphisms with epilepsy risk and prognosis in the Saudi
            population.
REFERENCE   2  (residues 1 to 1951)
  AUTHORS   Ma H, Guo Y, Chen Z, Wang L, Tang Z, Zhang J, Miao Q and Zhai Q.
  TITLE     Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in
            children with epilepsy with febrile seizures plus(EFS+)
  JOURNAL   Seizure 88, 146-152 (2021)
   PUBMED   33895391
  REMARK    GeneRIF: Mutations in the sodium channel genes SCN1A, SCN3A, and
            SCN9A in children with epilepsy with febrile seizures plus(EFS+).
REFERENCE   3  (residues 1 to 1951)
  AUTHORS   Zaman T, Helbig KL, Clatot J, Thompson CH, Kang SK, Stouffs K,
            Jansen AE, Verstraete L, Jacquinet A, Parrini E, Guerrini R,
            Fujiwara Y, Miyatake S, Ben-Zeev B, Bassan H, Reish O, Marom D,
            Hauser N, Vu TA, Ackermann S, Spencer CE, Lippa N, Srinivasan S,
            Charzewska A, Hoffman-Zacharska D, Fitzpatrick D, Harrison V,
            Vasudevan P, Joss S, Pilz DT, Fawcett KA, Helbig I, Matsumoto N,
            Kearney JA, Fry AE and Goldberg EM.
  TITLE     SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy
            and Brain Malformation
  JOURNAL   Ann Neurol 88 (2), 348-362 (2020)
   PUBMED   32515017
  REMARK    GeneRIF: SCN3A-Related Neurodevelopmental Disorder: A Spectrum of
            Epilepsy and Brain Malformation.
REFERENCE   4  (residues 1 to 1951)
  AUTHORS   Wu J, Li M and Zhang Y.
  TITLE     Long noncoding RNA HOXA-AS2 regulates the expression of SCN3A by
            sponging miR-106a in breast cancer
  JOURNAL   J Cell Biochem 120 (9), 14465-14475 (2019)
   PUBMED   30993766
  REMARK    GeneRIF: Long noncoding RNA HOXA-AS2 regulates the expression of
            SCN3A by sponging miR-106a in breast cancer.
REFERENCE   5  (residues 1 to 1951)
  AUTHORS   Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN,
            Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne
            L, Bonnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke
            M, de Wit MCY, Mancini GMS, Sztriha L, Im K, Amrom D, Andermann E,
            Paetau R, Lehesjoki AE, Walsh CA and Lehtinen MK.
  TITLE     Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical
            Folding and Oral Motor Development
  JOURNAL   Neuron 99 (5), 905-913 (2018)
   PUBMED   30146301
  REMARK    GeneRIF: SCN3A expression is involved in the prenatal development
            of human cortical language areas.
            GeneRIF: SCN3A is involved in development of the human brain and
            oral motor development. When SCN3A is mutated, patients present
            with polymicrogyria and speech deficits.
REFERENCE   6  (residues 1 to 1951)
  AUTHORS   Chen YH, Dale TJ, Romanos MA, Whitaker WR, Xie XM and Clare JJ.
  TITLE     Cloning, distribution and functional analysis of the type III
            sodium channel from human brain
  JOURNAL   Eur J Neurosci 12 (12), 4281-4289 (2000)
   PUBMED   11122339
REFERENCE   7  (residues 1 to 1951)
  AUTHORS   Gotthardt M, Trommsdorff M, Nevitt MF, Shelton J, Richardson JA,
            Stockinger W, Nimpf J and Herz J.
  TITLE     Interactions of the low density lipoprotein receptor gene family
            with cytosolic adaptor and scaffold proteins suggest diverse
            biological functions in cellular communication and signal
            transduction
  JOURNAL   J Biol Chem 275 (33), 25616-25624 (2000)
   PUBMED   10827173
REFERENCE   8  (residues 1 to 1951)
  AUTHORS   Lu CM and Brown GB.
  TITLE     Isolation of a human-brain sodium-channel gene encoding two
            isoforms of the subtype III alpha-subunit
  JOURNAL   J Mol Neurosci 10 (1), 67-70 (1998)
   PUBMED   9589372
REFERENCE   9  (residues 1 to 1951)
  AUTHORS   Malo MS, Srivastava K, Andresen JM, Chen XN, Korenberg JR and
            Ingram VM.
  TITLE     Targeted gene walking by low stringency polymerase chain reaction:
            assignment of a putative human brain sodium channel gene (SCN3A) to
            chromosome 2q24-31
  JOURNAL   Proc Natl Acad Sci U S A 91 (8), 2975-2979 (1994)
   PUBMED   8159690
REFERENCE   10 (residues 1 to 1951)
  AUTHORS   Helbig,K.L. and Goldberg,E.M.
  TITLE     SCN3A-Related Neurodevelopmental Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   34081427
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL079365.1, DA772987.1,
            AJ251507.1, AF035686.1, AC013463.7 and BM681920.1.
            
            Summary: Voltage-gated sodium channels are transmembrane
            glycoprotein complexes composed of a large alpha subunit with 24
            transmembrane domains and one or more regulatory beta subunits.
            They are responsible for the generation and propagation of action
            potentials in neurons and muscle. This gene encodes one member of
            the sodium channel alpha subunit gene family, and is found in a
            cluster of five alpha subunit genes on chromosome 2. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3), also known as the neonatal
            form, uses an alternate in-frame splice site in the central coding
            region and an alternate form of an exon in the 5' coding region,
            compared to variant 1. The resulting isoform (3) is shorter than
            isoform 1, and contains one amino acid substitution relative to
            isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ251507.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1951
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.3"
     Protein         1..1951
                     /product="sodium channel protein type 3 subunit alpha
                     isoform 3"
                     /note="sodium channel, voltage-gated, type III, alpha
                     polypeptide; sodium channel protein type 3 subunit alpha;
                     brain III voltage-gated sodium channel; voltage-gated
                     sodium channel subtype III; sodium channel protein type
                     III subunit alpha; sodium channel, voltage gated, type III
                     alpha subunit; sodium channel protein brain III subunit
                     alpha; voltage-gated sodium channel subunit alpha Nav1.3"
                     /calculated_mol_wt=221332
     Region          127..434
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:395416"
     Region          513..661
                     /region_name="Na_trans_cytopl"
                     /note="Cytoplasmic domain of voltage-gated Na+ ion
                     channel; pfam11933"
                     /db_xref="CDD:403218"
     Region          710..923
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:395416"
     Region          949..1151
                     /region_name="Na_trans_assoc"
                     /note="Sodium ion transport-associated; pfam06512"
                     /db_xref="CDD:399489"
     Region          1156..1428
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:395416"
     Region          1420..1472
                     /region_name="Na_channel_gate"
                     /note="Inactivation gate of the voltage-gated sodium
                     channel alpha subunits; cd13433"
                     /db_xref="CDD:240441"
     Site            1434..1437
                     /site_type="other"
                     /note="putative hydrophobic latch"
                     /db_xref="CDD:240441"
     Region          1476..1732
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:395416"
     Region          1744..1791
                     /region_name="GPHH"
                     /note="Voltage-dependent L-type calcium channel,
                     IQ-associated; pfam16905"
                     /db_xref="CDD:407139"
     CDS             1..1951
                     /gene="SCN3A"
                     /gene_synonym="DEE62; EIEE62; FFEVF4; NAC3; Nav1.3"
                     /coded_by="NM_001081677.2:476..6331"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS46440.1"
                     /db_xref="GeneID:6328"
                     /db_xref="HGNC:HGNC:10590"
                     /db_xref="MIM:182391"
ORIGIN      
        1 maqallvppg pesfrlftre slaaiekraa eekakkpkke qdnddenkpk pnsdleagkn
       61 lpfiygdipp emvsepledl dpyyinkktf ivmnkgkaif rfsatsalyi ltplnpvrki
      121 aikilvhslf smlimctilt ncvfmtlsnp pdwtknveyt ftgiytfesl ikilargfcl
      181 edftflrdpw nwldfsvivm ayvtefvslg nvsalrtfrv lralktisvi pglktivgal
      241 iqsvkklsdv miltvfclsv faliglqlfm gnlrnkclqw ppsdsafetn ttsyfngtmd
      301 sngtfvnvtm stfnwkdyig ddshfyvldg qkdpllcgng sdagqcpegy icvkagrnpn
      361 ygytsfdtfs waflslfrlm tqdywenlyq ltlraagkty miffvlvifl gsfylvnlil
      421 avvamayeeq nqatleeaeq keaefqqmle qlkkqqeeaq avaaasaasr dfsgigglge
      481 llessseask lssksakewr nrrkkrrqre hlegnnkger dsfpksesed svkrssflfs
      541 mdgnrltsdk kfcsphqsll sirgslfspr rnsktsifsf rgrakdvgse ndfaddehst
      601 fedsesrrds lfvphrhger rnsngtttet evrkrrlssy qismemleds sgrqravsia
      661 siltntmeel eesrqkcppc wyrfanvfli wdccdawlkv khlvnlivmd pfvdlaitic
      721 ivlntlfmam ehypmteqfs svltvgnlvf tgiftaemvl kiiamdpyyy fqegwnifdg
      781 iivslslmel glsnveglsv lrsfrllrvf klakswptln mlikiignsv galgnltlvl
      841 aiivfifavv gmqlfgksyk ecvckinddc tlprwhmndf fhsflivfrv lcgewietmw
      901 dcmevagqtm clivfmlvmv ignlvvlnlf lalllssfss dnlaatdddn emnnlqiavg
      961 rmqkgidyvk nkmrecfqka ffrkpkviei hegnkidscm snntgieisk elnylrdgng
     1021 ttsgvgtgss vekyvidend ymsfinnpsl tvtvpiavge sdfenlntee fsseselees
     1081 keklnatsss egstvdvvlp regeqaetep eedlkpeacf tegcikkfpf cqvsteegkg
     1141 kiwwnlrktc ysivehnwfe tfivfmills sgalafediy ieqrktiktm leyadkvfty
     1201 ifilemllkw vaygfqtyft nawcwldfli vdvslvslva nalgyselga ikslrtlral
     1261 rplralsrfe gmrvvvnalv gaipsimnvl lvclifwlif simgvnlfag kfyhcvnmtt
     1321 gnmfdisdvn nlsdcqalgk qarwknvkvn fdnvgagyla llqvatfkgw mdimyaavds
     1381 rdvklqpvye enlymylyfv ifiifgsfft lnlfigviid nfnqqkkkfg gqdifmteeq
     1441 kkyynamkkl gskkpqkpip rpankfqgmv fdfvtrqvfd isimilicln mvtmmvetdd
     1501 qgkymtlvls rinlvfivlf tgefvlklvs lrhyyftigw nifdfvvvil sivgmflaem
     1561 iekyfvsptl frvirlarig rilrlikgak girtllfalm mslpalfnig lllflvmfiy
     1621 aifgmsnfay vkkeagiddm fnfetfgnsm iclfqittsa gwdgllapil nsappdcdpd
     1681 tihpgssvkg dcgnpsvgif ffvsyiiisf lvvvnmyiav ilenfsvate esaeplsedd
     1741 femfyevwek fdpdatqfie fsklsdfaaa ldpplliakp nkvqliamdl pmvsgdrihc
     1801 ldilfaftkr vlgesgemda lriqmedrfm asnpskvsye pitttlkrkq eevsaaiiqr
     1861 nfrcyllkqr lknissnynk eaikgridlp ikqdmiidkl ngnstpektd gsssttspps
     1921 ydsvtkpdke kfekdkpeke skgkevrenq k
//
LOCUS       NP_006756                348 aa            linear   PRI 13-MAR-2023
DEFINITION  tumor suppressor candidate 3 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_006756
VERSION     NP_006756.2
DBSOURCE    REFSEQ: accession NM_006765.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 348)
  AUTHORS   Deng R, Lu X, Hong C, Cai R, Wang P, Xiong L, Wang X, Chen Q and
            Lin J.
  TITLE     Downregulation of TUSC3 promotes EMT and hepatocellular carcinoma
            progression through LIPC/AKT axis
  JOURNAL   J Transl Med 20 (1), 485 (2022)
   PUBMED   36274132
  REMARK    GeneRIF: Downregulation of TUSC3 promotes EMT and hepatocellular
            carcinoma progression through LIPC/AKT axis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 348)
  AUTHORS   Sun F, Jie Q, Li Q, Wei Y, Li H, Yue X and Ma Y.
  TITLE     TUSC3 inhibits cell proliferation and invasion in cervical squamous
            cell carcinoma via suppression of the AKT signalling pathway
  JOURNAL   J Cell Mol Med 26 (5), 1629-1642 (2022)
   PUBMED   35137520
  REMARK    GeneRIF: TUSC3 inhibits cell proliferation and invasion in cervical
            squamous cell carcinoma via suppression of the AKT signalling
            pathway.
REFERENCE   3  (residues 1 to 348)
  AUTHORS   Ren Y, Deng R, Cai R, Lu X, Luo Y, Wang Z, Zhu Y, Yin M, Ding Y and
            Lin J.
  TITLE     TUSC3 induces drug resistance and cellular stemness via Hedgehog
            signaling pathway in colorectal cancer
  JOURNAL   Carcinogenesis 41 (12), 1755-1766 (2020)
   PUBMED   32338281
  REMARK    GeneRIF: TUSC3 induces drug resistance and cellular stemness via
            Hedgehog signaling pathway in colorectal cancer.
REFERENCE   4  (residues 1 to 348)
  AUTHORS   Ouidir M, Mendola P, Buck Louis GM, Kannan K, Zhang C and
            Tekola-Ayele F.
  TITLE     Concentrations of persistent organic pollutants in maternal plasma
            and epigenome-wide placental DNA methylation
  JOURNAL   Clin Epigenetics 12 (1), 103 (2020)
   PUBMED   32653021
  REMARK    GeneRIF: Concentrations of persistent organic pollutants in
            maternal plasma and epigenome-wide placental DNA methylation.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 348)
  AUTHORS   Wang S and Zhu W.
  TITLE     Tumour suppressor candidate 3 inhibits biological function and
            increases endoplasmic reticulum stress of melanoma cells WM451 by
            regulating AKT/GSK3-beta/beta-catenin pathway
  JOURNAL   Cell Biochem Funct 38 (5), 604-612 (2020)
   PUBMED   32090352
  REMARK    GeneRIF: Tumour suppressor candidate 3 inhibits biological function
            and increases endoplasmic reticulum stress of melanoma cells WM451
            by regulating AKT/GSK3-beta/beta-catenin pathway.
REFERENCE   6  (residues 1 to 348)
  AUTHORS   Kelleher DJ, Karaoglu D, Mandon EC and Gilmore R.
  TITLE     Oligosaccharyltransferase isoforms that contain different catalytic
            STT3 subunits have distinct enzymatic properties
  JOURNAL   Mol Cell 12 (1), 101-111 (2003)
   PUBMED   12887896
REFERENCE   7  (residues 1 to 348)
  AUTHORS   Ishii H, Baffa R, Numata SI, Murakumo Y, Rattan S, Inoue H, Mori M,
            Fidanza V, Alder H and Croce CM.
  TITLE     The FEZ1 gene at chromosome 8p22 encodes a leucine-zipper protein,
            and its expression is altered in multiple human tumors
  JOURNAL   Proc Natl Acad Sci U S A 96 (7), 3928-3933 (1999)
   PUBMED   10097140
REFERENCE   8  (residues 1 to 348)
  AUTHORS   Pak BJ, Park H, Chang ER, Pang SC and Graham CH.
  TITLE     Differential display analysis of oxygen-mediated changes in gene
            expression in first trimester human trophoblast cells
  JOURNAL   Placenta 19 (7), 483-488 (1998)
   PUBMED   9778121
REFERENCE   9  (residues 1 to 348)
  AUTHORS   MacGrogan D, Levy A, Bova GS, Isaacs WB and Bookstein R.
  TITLE     Structure and methylation-associated silencing of a gene within a
            homozygously deleted region of human chromosome band 8p22
  JOURNAL   Genomics 35 (1), 55-65 (1996)
   PUBMED   8661104
REFERENCE   10 (residues 1 to 348)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA796279.1, U42349.1,
            AC019292.10 and AI366810.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 7, 2003 this sequence version replaced NP_006756.1.
            
            Summary: This gene encodes a protein that has been associated with
            several biological functions including cellular magnesium uptake,
            protein glycosylation and embryonic development. This protein
            localizes to the endoplasmic reticulum and acts as a component of
            the oligosaccharyl transferase complex which is responsible for
            N-linked protein glycosylation. This gene is a candidate tumor
            suppressor gene. Homozygous mutations in this gene are associated
            with autosomal recessive nonsyndromic mental retardation-7 and in
            the proliferation and invasiveness of several cancers including
            metastatic pancreatic cancer, ovarian cancer and glioblastoma
            multiform. [provided by RefSeq, Oct 2017].
            
            Transcript Variant: This variant (1) represents the longer
            transcript, and encodes the longer isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.190050.1,
                                           SRR1660805.203313.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151741, SAMN03568911
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000503731.6/ ENSP00000424544.1
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..348
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22"
     Protein         1..348
                     /product="tumor suppressor candidate 3 isoform 1
                     precursor"
                     /note="oligosaccharyltransferase 3 homolog A; magnesium
                     uptake/transporter TUSC3; putative prostate cancer tumor
                     suppressor; oligosaccharyl transferase subunit TUSC3;
                     dolichyl-diphosphooligosaccharide--protein
                     glycosyltransferase subunit TUSC3"
                     /calculated_mol_wt=35211
     sig_peptide     1..41
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=4483
     mat_peptide     42..348
                     /product="Tumor suppressor candidate 3.
                     /id=PRO_0000215300"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13454.1)"
                     /calculated_mol_wt=35211
     Region          54..342
                     /region_name="OST3_OST6"
                     /note="OST3 / OST6 family, transporter family; pfam04756"
                     /db_xref="CDD:428108"
     Site            197..217
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13454.1)"
     Site            222..242
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13454.1)"
     Site            277..297
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13454.1)"
     Site            313..333
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13454.1)"
     CDS             1..348
                     /gene="TUSC3"
                     /gene_synonym="D8S1992; M33; MagT2; MRT22; MRT7; N33;
                     OST3A; SLC58A2"
                     /coded_by="NM_006765.4:169..1215"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS5994.1"
                     /db_xref="GeneID:7991"
                     /db_xref="HGNC:HGNC:30242"
                     /db_xref="MIM:601385"
ORIGIN      
        1 mgargapsrr rqagrrlryl ptgsfpflll llllciqlgg gqkkkenlla ekveqlmews
       61 srrsifrmng dkfrkfikap prnysmivmf talqpqrqcs vcrqaneeyq ilanswryss
      121 afcnklffsm vdydegtdvf qqlnmnsapt fmhfppkgrp kradtfdlqr igfaaeqlak
      181 wiadrtdvhi rvfrppnysg tialallvsl vggllylrrn nlefiynktg wamvslcivf
      241 amtsgqmwnh irgppyahkn phngqvsyih gssqaqfvae shiilvlnaa itmgmvllne
      301 aatskgdvgk rriiclvglg lvvfffsfll sifrskyhgy pysdldfe
//
LOCUS       NP_004419                205 aa            linear   PRI 14-MAR-2023
DEFINITION  ephrin-A1 isoform a precursor [Homo sapiens].
ACCESSION   NP_004419
VERSION     NP_004419.2
DBSOURCE    REFSEQ: accession NM_004428.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 205)
  AUTHORS   Salem E, Keshvari A, Mahdavinezhad A, Soltanian AR, Saidijam M and
            Afshar S.
  TITLE     Role of EFNA1 SNP (rs12904) in Tumorigenesis and Metastasis of
            Colorectal Cancer: A Bioinformatic Analysis and HRM SNP Genotyping
            Verification
  JOURNAL   Asian Pac J Cancer Prev 23 (10), 3523-3531 (2022)
   PUBMED   36308379
  REMARK    GeneRIF: Role of EFNA1 SNP (rs12904) in Tumorigenesis and
            Metastasis of Colorectal Cancer: A Bioinformatic Analysis and HRM
            SNP Genotyping Verification.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 205)
  AUTHORS   Shen X, Li M, Lei Y, Lu S, Wang S, Liu Z, Wang C, Zhao Y, Wang A,
            Bi C and Zhu G.
  TITLE     An integrated analysis of single-cell and bulk transcriptomics
            reveals EFNA1 as a novel prognostic biomarker for cervical cancer
  JOURNAL   Hum Cell 35 (2), 705-720 (2022)
   PUBMED   35072898
  REMARK    GeneRIF: An integrated analysis of single-cell and bulk
            transcriptomics reveals EFNA1 as a novel prognostic biomarker for
            cervical cancer.
REFERENCE   3  (residues 1 to 205)
  AUTHORS   Asadian F, Ghadyani M, Antikchi MH, Dastgheib SA, Neamatzadeh H,
            Sheikhpour E, Khajehnoori S and Tabei SS.
  TITLE     Association of Epidermal Growth Factor 61A>G, Survivin -31G>C, and
            EFNA1 -1732G>A Polymorphisms with Susceptibility to Colorectal
            Cancer
  JOURNAL   J Gastrointest Cancer 53 (1), 78-83 (2022)
   PUBMED   33180239
  REMARK    GeneRIF: Association of Epidermal Growth Factor 61A>G, Survivin
            -31G>C, and EFNA1 -1732G>A Polymorphisms with Susceptibility to
            Colorectal Cancer.
REFERENCE   4  (residues 1 to 205)
  AUTHORS   Lee SH, Kang SH, Han MS, Kwak JW, Kim HG, Lee TH, Lee DB and Kim
            TH.
  TITLE     The Expression of ephrinA1/ephA2 Receptor Increases in Chronic
            Rhinosinusitis and ephrinA1/ephA2 Signaling Affects
            Rhinovirus-Induced Innate Immunity in Human Sinonasal Epithelial
            Cells
  JOURNAL   Front Immunol 12, 793517 (2021)
   PUBMED   34975898
  REMARK    GeneRIF: The Expression of ephrinA1/ephA2 Receptor Increases in
            Chronic Rhinosinusitis and ephrinA1/ephA2 Signaling Affects
            Rhinovirus-Induced Innate Immunity in Human Sinonasal Epithelial
            Cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 205)
  AUTHORS   Hao YP, Wang WY, Qiao Q and Li G.
  TITLE     EFNA1 is a potential key gene that correlates with immune
            infiltration in low-grade glioma
  JOURNAL   Medicine (Baltimore) 100 (22), e26188 (2021)
   PUBMED   34087884
  REMARK    GeneRIF: EFNA1 is a potential key gene that correlates with immune
            infiltration in low-grade glioma.
REFERENCE   6  (residues 1 to 205)
  AUTHORS   Mahadevan D, Thanki N, Singh J, McPhie P, Zangrilli D, Wang LM,
            Guerrero C, LeVine H 3rd, Humblet C, Saldanha J et al.
  TITLE     Structural studies on the PH domains of Db1, Sos1, IRS-1, and beta
            ARK1 and their differential binding to G beta gamma subunits
  JOURNAL   Biochemistry 34 (28), 9111-9117 (1995)
   PUBMED   7619809
REFERENCE   7  (residues 1 to 205)
  AUTHORS   Kozlosky CJ, Maraskovsky E, McGrew JT, VandenBos T, Teepe M, Lyman
            SD, Srinivasan S, Fletcher FA, Gayle RB 3rd, Cerretti DP et al.
  TITLE     Ligands for the receptor tyrosine kinases hek and elk: isolation of
            cDNAs encoding a family of proteins
  JOURNAL   Oncogene 10 (2), 299-306 (1995)
   PUBMED   7838529
REFERENCE   8  (residues 1 to 205)
  AUTHORS   Davis S, Gale NW, Aldrich TH, Maisonpierre PC, Lhotak V, Pawson T,
            Goldfarb M and Yancopoulos GD.
  TITLE     Ligands for EPH-related receptor tyrosine kinases that require
            membrane attachment or clustering for activity
  JOURNAL   Science 266 (5186), 816-819 (1994)
   PUBMED   7973638
REFERENCE   9  (residues 1 to 205)
  AUTHORS   Beckmann MP, Cerretti DP, Baum P, Vanden Bos T, James L, Farrah T,
            Kozlosky C, Hollingsworth T, Shilling H, Maraskovsky E et al.
  TITLE     Molecular characterization of a family of ligands for eph-related
            tyrosine kinase receptors
  JOURNAL   EMBO J 13 (16), 3757-3762 (1994)
   PUBMED   8070404
REFERENCE   10 (residues 1 to 205)
  AUTHORS   Holzman LB, Marks RM and Dixit VM.
  TITLE     A novel immediate-early response gene of endothelium is induced by
            cytokines and encodes a secreted protein
  JOURNAL   Mol Cell Biol 10 (11), 5830-5838 (1990)
   PUBMED   2233719
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK057845.1, M57730.1,
            AL833641.1 and AW274944.1.
            On Jul 31, 2003 this sequence version replaced NP_004419.1.
            
            Summary: This gene encodes a member of the ephrin (EPH) family. The
            ephrins and EPH-related receptors comprise the largest subfamily of
            receptor protein-tyrosine kinases and have been implicated in
            mediating developmental events, especially in the nervous system
            and in erythropoiesis. Based on their structures and sequence
            relationships, ephrins are divided into the ephrin-A (EFNA) class,
            which are anchored to the membrane by a
            glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB)
            class, which are transmembrane proteins. This gene encodes an EFNA
            class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and
            EPHA7 receptors. Two transcript variants that encode different
            isoforms were identified through sequence analysis. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC095432.1, AK057845.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368407.8/ ENSP00000357392.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     Protein         1..205
                     /product="ephrin-A1 isoform a precursor"
                     /note="tumor necrosis factor, alpha-induced protein 4;
                     immediate early response protein B61; eph-related receptor
                     tyrosine kinase ligand 1; ligand of eph-related kinase 1;
                     TNF alpha-induced protein 4; epididymis secretory sperm
                     binding protein; gastric cancer metastasis associated long
                     noncoding RNA"
                     /calculated_mol_wt=21896
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1909
     mat_peptide     19..205
                     /product="ephrin-A1 isoform a"
                     /calculated_mol_wt=21896
     Region          19..148
                     /region_name="Ephrin-A_Ectodomain"
                     /note="Ectodomain of Ephrin A; cd10425"
                     /db_xref="CDD:259896"
     Site            26
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20505120,
                     ECO:0000269|PubMed:23661698; propagated from
                     UniProtKB/Swiss-Prot (P20827.2)"
     Site            order(46,87..91,103..104,111..116,118..119)
                     /site_type="other"
                     /note="receptor binding site [polypeptide binding]"
                     /db_xref="CDD:259896"
     CDS             1..205
                     /gene="EFNA1"
                     /gene_synonym="B61; ECKLG; EFL1; EPLG1; GMAN; LERK-1;
                     LERK1; TNFAIP4"
                     /coded_by="NM_004428.3:103..720"
                     /note="isoform a precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS1091.1"
                     /db_xref="GeneID:1942"
                     /db_xref="HGNC:HGNC:3221"
                     /db_xref="MIM:191164"
ORIGIN      
        1 meflwapllg lccslaaadr htvfwnssnp kfrnedytih vqlndyvdii cphyedhsva
       61 daameqyily lveheeyqlc qpqskdqvrw qcnrpsakhg peklsekfqr ftpftlgkef
      121 keghsyyyis kpihqhedrc lrlkvtvsgk ithspqahdn pqekrlaadd pevrvlhsig
      181 hsaaprlfpl awtvlllpll llqtp
//
LOCUS       NP_001353577             352 aa            linear   PRI 15-MAR-2023
DEFINITION  inactive C-alpha-formylglycine-generating enzyme 2 isoform i
            precursor [Homo sapiens].
ACCESSION   NP_001353577 XP_016867428
VERSION     NP_001353577.1
DBSOURCE    REFSEQ: accession NM_001366648.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 352)
  AUTHORS   Su JQ, Lai PY, Hu PH, Hu JM, Chang PK, Chen CY, Wu JJ, Lin YJ, Sun
            CA, Yang T, Hsu CH, Lin HC and Chou YC.
  TITLE     Differential DNA methylation analysis of SUMF2, ADAMTS5, and PXDN
            provides novel insights into colorectal cancer prognosis prediction
            in Taiwan
  JOURNAL   World J Gastroenterol 28 (8), 825-839 (2022)
   PUBMED   35317099
  REMARK    GeneRIF: Differential DNA methylation analysis of SUMF2, ADAMTS5,
            and PXDN provides novel insights into colorectal cancer prognosis
            prediction in Taiwan.
REFERENCE   2  (residues 1 to 352)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 352)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   4  (residues 1 to 352)
  AUTHORS   Deng X, Sabino EC, Cunha-Neto E, Ribeiro AL, Ianni B, Mady C, Busch
            MP and Seielstad M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 352)
  AUTHORS   Liang H, Li Z, Xue L, Jiang X and Liu F.
  TITLE     SUMF2 interacts with interleukin-13 and inhibits interleukin-13
            secretion in bronchial smooth muscle cells
  JOURNAL   J Cell Biochem 108 (5), 1076-1083 (2009)
   PUBMED   19739097
  REMARK    GeneRIF: SUMF2 interacted with IL-13 and inhibited IL-13 secretion
            in bronchial smooth muscle cells and lymphocytes, which was
            independent of IL-13 glycosylation
REFERENCE   6  (residues 1 to 352)
  AUTHORS   Mariappan M, Preusser-Kunze A, Balleininger M, Eiselt N, Schmidt B,
            Gande SL, Wenzel D, Dierks T and von Figura K.
  TITLE     Expression, localization, structural, and functional
            characterization of pFGE, the paralog of the
            Calpha-formylglycine-generating enzyme
  JOURNAL   J Biol Chem 280 (15), 15173-15179 (2005)
   PUBMED   15708861
  REMARK    GeneRIF: pFGE (SUMF2) is the paralog of the
            Calpha-formylglycine-generating enzyme
REFERENCE   7  (residues 1 to 352)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   8  (residues 1 to 352)
  AUTHORS   Landgrebe J, Dierks T, Schmidt B and von Figura K.
  TITLE     The human SUMF1 gene, required for posttranslational sulfatase
            modification, defines a new gene family which is conserved from
            pro- to eukaryotes
  JOURNAL   Gene 316, 47-56 (2003)
   PUBMED   14563551
REFERENCE   9  (residues 1 to 352)
  AUTHORS   Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G and
            Ballabio A.
  TITLE     The multiple sulfatase deficiency gene encodes an essential and
            limiting factor for the activity of sulfatases
  JOURNAL   Cell 113 (4), 445-456 (2003)
   PUBMED   12757706
REFERENCE   10 (residues 1 to 352)
  AUTHORS   Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M
            and von Figura K.
  TITLE     Multiple sulfatase deficiency is caused by mutations in the gene
            encoding the human C(alpha)-formylglycine generating enzyme
  JOURNAL   Cell 113 (4), 435-444 (2003)
   PUBMED   12757705
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB260494.1, AC092101.5,
            DB294596.1 and BQ431971.1.
            On Oct 13, 2018 this sequence version replaced XP_016867428.1.
            
            Summary: The catalytic sites of sulfatases are only active if they
            contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly
            residue is posttranslationally generated from a cysteine by enzymes
            with FGly-generating activity. The gene described in this record is
            a member of the sulfatase-modifying factor family and encodes a
            protein with a DUF323 domain that localizes to the lumen of the
            endoplasmic reticulum. This protein has low levels of
            FGly-generating activity but can heterodimerize with another family
            member - a protein with high levels of FGly-generating activity.
            Alternate transcriptional splice variants, encoding different
            isoforms, have been characterized. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.137217.1,
                                           SRR7346977.1277457.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..352
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p11.2"
     Protein         1..352
                     /product="inactive C-alpha-formylglycine-generating enzyme
                     2 isoform i precursor"
                     /note="C-alpha-formyglycine-generating enzyme 2; paralog
                     of the formylglycine-generating enzyme;
                     C-alpha-formylglycine-generating enzyme 2; paralog of
                     formylglycine-generating enzyme; inactive
                     C-alpha-formylglycine-generating enzyme 2; epididymis
                     secretory sperm binding protein"
                     /calculated_mol_wt=37124
     sig_peptide     1..25
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2640
     Region          26..274
                     /region_name="FGE-sulfatase"
                     /note="Sulfatase-modifying factor enzyme 1; pfam03781"
                     /db_xref="CDD:397722"
     Site            191
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15687489; propagated from
                     UniProtKB/Swiss-Prot (Q8NBJ7.2)"
     CDS             1..352
                     /gene="SUMF2"
                     /gene_synonym="pFGE"
                     /coded_by="NM_001366648.2:27..1085"
                     /note="isoform i precursor is encoded by transcript
                     variant 9"
                     /db_xref="CCDS:CCDS94107.1"
                     /db_xref="GeneID:25870"
                     /db_xref="HGNC:HGNC:20415"
                     /db_xref="MIM:607940"
ORIGIN      
        1 marhglpllp llsllvgawl klgngqatsm vqlqggrflm gtnspdsrdg dgpvreatvk
       61 pfaidifpvt nkdfrdfvre kkyrteaemf gwsfvfedfv sdelrnkatq pmksvlwwlp
      121 vekafwrqpa gpgsgirerl ehpvlhvswn daraycawrg krlpteeewe faargglkgq
      181 vypwgnwfqp nrtnlwqgkf pkgdkaedgf hgvspvnafp aqnnyglydl lgnvwewtas
      241 pyqaaeqdmr vlrgaswidt adgsanhrar vttrvllccp gwsavaqsql ttasncqala
      301 ilppqllkyl glqdgqhsrf slrqprfplc crrrpaarga vssrvvtrrk af
//
LOCUS       NP_001338154             668 aa            linear   PRI 15-MAR-2023
DEFINITION  protein moonraker isoform 2 [Homo sapiens].
ACCESSION   NP_001338154 XP_016880945
VERSION     NP_001338154.1
DBSOURCE    REFSEQ: accession NM_001351225.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 668)
  AUTHORS   Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann
            RW and Weaver KN.
  TITLE     Genetic and phenotypic heterogeneity in KIAA0753-related
            ciliopathies
  JOURNAL   Am J Med Genet A 188 (1), 104-115 (2022)
   PUBMED   34523780
  REMARK    GeneRIF: Genetic and phenotypic heterogeneity in KIAA0753-related
            ciliopathies.
REFERENCE   2  (residues 1 to 668)
  AUTHORS   Chang CH, Chen TY, Lu IL, Li RB, Tsai JJ, Lin PY and Tang TK.
  TITLE     CEP120-mediated KIAA0753 recruitment onto centrioles is required
            for timely neuronal differentiation and germinal zone exit in the
            developing cerebellum
  JOURNAL   Genes Dev 35 (21-22), 1445-1460 (2021)
   PUBMED   34711653
  REMARK    GeneRIF: CEP120-mediated KIAA0753 recruitment onto centrioles is
            required for timely neuronal differentiation and germinal zone exit
            in the developing cerebellum.
REFERENCE   3  (residues 1 to 668)
  AUTHORS   Kumar D, Rains A, Herranz-Perez V, Lu Q, Shi X, Swaney DL,
            Stevenson E, Krogan NJ, Huang B, Westlake C, Garcia-Verdugo JM,
            Yoder BK and Reiter JF.
  TITLE     A ciliopathy complex builds distal appendages to initiate
            ciliogenesis
  JOURNAL   J Cell Biol 220 (9) (2021)
   PUBMED   34241634
  REMARK    GeneRIF: A ciliopathy complex builds distal appendages to initiate
            ciliogenesis.
REFERENCE   4  (residues 1 to 668)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 668)
  AUTHORS   Hammarsjo A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM,
            Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K,
            Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister
            W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N,
            Nordgren A, Miyake N, Grigelioniene G and Ikegawa S.
  TITLE     Novel KIAA0753 mutations extend the phenotype of skeletal
            ciliopathies
  JOURNAL   Sci Rep 7 (1), 15585 (2017)
   PUBMED   29138412
  REMARK    GeneRIF: We demonstrate that KIAA0753 is expressed in normal fetal
            human growth plate and show that the affected fetus, with a
            compound heterozygous frameshift and a nonsense mutation in
            KIAA0753, has an abnormal proliferative zone and a broad
            hypertrophic zone.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 668)
  AUTHORS   Chevrier V, Bruel AL, Van Dam TJ, Franco B, Lo Scalzo M, Lembo F,
            Audebert S, Baudelet E, Isnardon D, Bole A, Borg JP, Kuentz P,
            Thevenon J, Burglen L, Faivre L, Riviere JB, Huynen MA, Birnbaum D,
            Rosnet O and Thauvin-Robinet C.
  TITLE     OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar
            satellites and centrosomes and is mutated in one individual with
            oral-facial-digital syndrome
  JOURNAL   Hum Mol Genet 25 (3), 497-513 (2016)
   PUBMED   26643951
REFERENCE   7  (residues 1 to 668)
  AUTHORS   Gupta GD, Coyaud E, Goncalves J, Mojarad BA, Liu Y, Wu Q,
            Gheiratmand L, Comartin D, Tkach JM, Cheung SW, Bashkurov M,
            Hasegan M, Knight JD, Lin ZY, Schueler M, Hildebrandt F, Moffat J,
            Gingras AC, Raught B and Pelletier L.
  TITLE     A Dynamic Protein Interaction Landscape of the Human
            Centrosome-Cilium Interface
  JOURNAL   Cell 163 (6), 1484-1499 (2015)
   PUBMED   26638075
REFERENCE   8  (residues 1 to 668)
  AUTHORS   Kodani A, Yu TW, Johnson JR, Jayaraman D, Johnson TL, Al-Gazali L,
            Sztriha L, Partlow JN, Kim H, Krup AL, Dammermann A, Krogan NJ,
            Walsh CA and Reiter JF.
  TITLE     Centriolar satellites assemble centrosomal microcephaly proteins to
            recruit CDK2 and promote centriole duplication
  JOURNAL   Elife 4, e07519 (2015)
   PUBMED   26297806
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 668)
  AUTHORS   Firat-Karalar EN, Rauniyar N, Yates JR 3rd and Stearns T.
  TITLE     Proximity interactions among centrosome components identify
            regulators of centriole duplication
  JOURNAL   Curr Biol 24 (6), 664-670 (2014)
   PUBMED   24613305
REFERENCE   10 (residues 1 to 668)
  AUTHORS   Jakobsen L, Vanselow K, Skogs M, Toyoda Y, Lundberg E, Poser I,
            Falkenby LG, Bennetzen M, Westendorf J, Nigg EA, Uhlen M, Hyman AA
            and Andersen JS.
  TITLE     Novel asymmetrically localizing components of human centrosomes
            identified by complementary proteomics methods
  JOURNAL   EMBO J 30 (8), 1520-1535 (2011)
   PUBMED   21399614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004706.1, AC015916.13 and
            AL080108.1.
            On May 4, 2017 this sequence version replaced XP_016880945.1.
            
            Summary: This gene encodes a subunit of a protein complex that
            regulates ciliogenesis and cilia maintenance. The encoded protein
            has also been shown to regulate centriolar duplication. Mutations
            in this gene cause an orofaciodigital syndrome and a form of
            Joubert syndrome in human patients. [provided by RefSeq, May 2017].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2941188.1,
                                           SRR14038197.106155.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..668
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     Protein         1..668
                     /product="protein moonraker isoform 2"
                     /note="protein moonraker; OFD1 and FOPNL interacting
                     protein; OFD1 and FOR20 interacting protein"
                     /calculated_mol_wt=75005
     Region          <1..663
                     /region_name="MNR"
                     /note="Protein moonraker; pfam15718"
                     /db_xref="CDD:434881"
     CDS             1..668
                     /gene="KIAA0753"
                     /gene_synonym="JBTS38; MNR; OFIP; SRTD21"
                     /coded_by="NM_001351225.2:1378..3384"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS86564.1"
                     /db_xref="GeneID:9851"
                     /db_xref="HGNC:HGNC:29110"
                     /db_xref="MIM:617112"
ORIGIN      
        1 msklaaahrg airalqmfvt qftdrgehpl parckelgsl irqlslcsvk ldadpsvpdv
       61 vidilqqiea lesllekkls pkkvkkcfse irsrfpigsq kalerwpsts pkgerrplta
      121 kdtfpqetsr psvakqllad kyqpdtelpe tqrlqseldv ldadivleeg pfildqsasf
      181 kdevlavakt kagkkkpvte nvpfrkkdtl aparqqglrk aergrqsqph sksrvqqttv
      241 ssrlkmnrqp vkdrkapwip pnptsppasp kcaawlkvkt sprdatkepl qqedpqeesh
      301 ltgaveheaa rlawldaets krlkeleelk akeidsmqkq rldwldaets rrtkelnelk
      361 aeemyrlqql svsathladk veeavldrlk pllvkaqrvn stteanihlk dgssvntaka
      421 qpaqevaavd fesnnirqld dfledcasel wavthakilg setlatveds kdspdleimm
      481 rrmeemekyq esvrqrynki ayadprlwmq eenndqkisa isekplsphp iritktvdrk
      541 dpavnimler pcngnsldes vgteegsekr eapllslaed sqqkegrapl fvppgmqhsi
      601 gdycsrfeqy lriisheavg sfnpwliaes fseelvdeal gavaaelqdm cedyaeavft
      661 sefleaat
//
LOCUS       NP_001362207             601 aa            linear   PRI 16-MAR-2023
DEFINITION  complement factor I isoform 4 preproprotein [Homo sapiens].
ACCESSION   NP_001362207
VERSION     NP_001362207.1
DBSOURCE    REFSEQ: accession NM_001375278.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 601)
  AUTHORS   Hallam TM, Cox TE, Smith-Jackson K, Brocklebank V, Baral AJ,
            Tzoumas N, Steel DH, Wong EKS, Shuttleworth VG, Lotery AJ, Harris
            CL, Marchbank KJ and Kavanagh D.
  TITLE     A novel method for real-time analysis of the complement C3b:FH:FI
            complex reveals dominant negative CFI variants in age-related
            macular degeneration
  JOURNAL   Front Immunol 13, 1028760 (2022)
   PUBMED   36643920
  REMARK    GeneRIF: A novel method for real-time analysis of the complement
            C3b:FH:FI complex reveals dominant negative CFI variants in
            age-related macular degeneration.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 601)
  AUTHORS   Java A, Pozzi N, Schroeder MC, Hu Z, Huan T, Seddon JM and Atkinson
            J.
  TITLE     Functional analysis of rare genetic variants in complement factor I
            in advanced age-related macular degeneration
  JOURNAL   Hum Mol Genet 31 (21), 3683-3693 (2022)
   PUBMED   35531992
  REMARK    GeneRIF: Functional analysis of rare genetic variants in complement
            factor I in advanced age-related macular degeneration.
REFERENCE   3  (residues 1 to 601)
  AUTHORS   Jones AV, Curtiss D, Harris C, Southerington T, Hautalahti M,
            Wihuri P, Makela J, Kallionpaa RE, Makkonen E, Knopp T, Mannermaa
            A, Makinen E, Moilanen AM, Tezel TH and Waheed NK.
  CONSRTM   SCOPE Study group
  TITLE     An assessment of prevalence of Type 1 CFI rare variants in European
            AMD, and why lack of broader genetic data hinders development of
            new treatments and healthcare access
  JOURNAL   PLoS One 17 (9), e0272260 (2022)
   PUBMED   36067162
  REMARK    GeneRIF: An assessment of prevalence of Type 1 CFI rare variants in
            European AMD, and why lack of broader genetic data hinders
            development of new treatments and healthcare access.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 601)
  AUTHORS   de Jong S, de Breuk A, Bakker B, Katti S, Hoyng CB, Nilsson SC,
            Blom AM, van den Heuvel LP, den Hollander AI and Volokhina EB.
  TITLE     Functional Analysis of Variants in Complement Factor I Identified
            in Age-Related Macular Degeneration and Atypical Hemolytic Uremic
            Syndrome
  JOURNAL   Front Immunol 12, 789897 (2022)
   PUBMED   35069568
  REMARK    GeneRIF: Functional Analysis of Variants in Complement Factor I
            Identified in Age-Related Macular Degeneration and Atypical
            Hemolytic Uremic Syndrome.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 601)
  AUTHORS   van de Ven JP, Nilsson SC, Tan PL, Buitendijk GH, Ristau T, Mohlin
            FC, Nabuurs SB, Schoenmaker-Koller FE, Smailhodzic D, Campochiaro
            PA, Zack DJ, Duvvari MR, Bakker B, Paun CC, Boon CJ, Uitterlinden
            AG, Liakopoulos S, Klevering BJ, Fauser S, Daha MR, Katsanis N,
            Klaver CC, Blom AM, Hoyng CB and den Hollander AI.
  TITLE     A functional variant in the CFI gene confers a high risk of
            age-related macular degeneration
  JOURNAL   Nat Genet 45 (7), 813-817 (2013)
   PUBMED   23685748
  REMARK    GeneRIF: these findings demonstrate that rare, highly penetrant
            mutations in CFI contribute to the genetic burden of age-related
            macular degeneration.
REFERENCE   6  (residues 1 to 601)
  AUTHORS   Martin,B. and Smith,R.J.H.
  TITLE     C3 Glomerulopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301598
REFERENCE   7  (residues 1 to 601)
  AUTHORS   Noris,M., Bresin,E., Mele,C. and Remuzzi,G.
  TITLE     Genetic Atypical Hemolytic-Uremic Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301541
REFERENCE   8  (residues 1 to 601)
  AUTHORS   DiScipio RG.
  TITLE     Ultrastructures and interactions of complement factors H and I
  JOURNAL   J Immunol 149 (8), 2592-2599 (1992)
   PUBMED   1401896
REFERENCE   9  (residues 1 to 601)
  AUTHORS   Shiang R, Murray JC, Morton CC, Buetow KH, Wasmuth JJ, Olney AH,
            Sanger WG and Goldberger G.
  TITLE     Mapping of the human complement factor I gene to 4q25
  JOURNAL   Genomics 4 (1), 82-86 (1989)
   PUBMED   2563353
REFERENCE   10 (residues 1 to 601)
  AUTHORS   Catterall,C.F., Lyons,A., Sim,R.B., Day,A.J. and Harris,T.J.
  TITLE     Characterization of primary amino acid sequence of human complement
            control protein factor I from an analysis of cDNA clones
  JOURNAL   Biochem J 242 (3), 849-856 (1987)
   PUBMED   2954545
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC126283.3 and AC004067.1.
            
            Summary: This gene encodes a serine proteinase that is essential
            for regulating the complement cascade. The encoded preproprotein is
            cleaved to produce both heavy and light chains, which are linked by
            disulfide bonds to form a heterodimeric glycoprotein. This
            heterodimer can cleave and inactivate the complement components C4b
            and C3b, and it prevents the assembly of the C3 and C5 convertase
            enzymes. Defects in this gene cause complement factor I deficiency,
            an autosomal recessive disease associated with a susceptibility to
            pyogenic infections. Mutations in this gene have been associated
            with a predisposition to atypical hemolytic uremic syndrome, a
            disease characterized by acute renal failure, microangiopathic
            hemolytic anemia and thrombocytopenia. Primary glomerulonephritis
            with immune deposits and age-related macular degeneration are other
            conditions associated with mutations of this gene. [provided by
            RefSeq, Dec 2015].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..601
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     Protein         1..601
                     /product="complement factor I isoform 4 preproprotein"
                     /EC_number="3.4.21.45"
                     /note="C3b-inactivator; Konglutinogen-activating factor;
                     complement factor I heavy chain; complement component I;
                     C3B/C4B inactivator; complement control protein factor I;
                     light chain of factor I"
                     /calculated_mol_wt=65645
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2281
     Region          43..108
                     /region_name="FIMAC"
                     /note="factor I membrane attack complex; smart00057"
                     /db_xref="CDD:214493"
     Site            70
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:21768352, ECO:0007744|PDB:2XRC;
                     propagated from UniProtKB/Swiss-Prot (P05156.2)"
     Site            103
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19838169, ECO:0000269|PubMed:21768352,
                     ECO:0007744|PDB:2XRC; propagated from UniProtKB/Swiss-Prot
                     (P05156.2)"
     Region          114..215
                     /region_name="SR"
                     /note="Scavenger receptor Cys-rich; smart00202"
                     /db_xref="CDD:214555"
     Site            177
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:21768352, ECO:0007744|PDB:2XRC;
                     propagated from UniProtKB/Swiss-Prot (P05156.2)"
     Region          224..256
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(227,235,246..247)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(239,242,246,252..253)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            249..253
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          257..293
                     /region_name="Ldl_recept_a"
                     /note="Low-density lipoprotein receptor domain class A;
                     pfam00057"
                     /db_xref="CDD:395011"
     Site            order(264,272,283..284)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(276,279,283,289..290)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            286..290
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          348..>519
                     /region_name="Tryp_SPc"
                     /note="Trypsin-like serine protease; Many of these are
                     synthesized as inactive precursor zymogens that are
                     cleaved during limited proteolysis to generate their
                     active forms. Alignment contains also inactive enzymes
                     that have substitutions of the catalytic triad...;
                     cd00190"
                     /db_xref="CDD:238113"
     Site            348
                     /site_type="active"
                     /note="cleavage site [active]"
                     /db_xref="CDD:238113"
     Site            472
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:21768352,
                     ECO:0007744|PDB:2XRC; propagated from UniProtKB/Swiss-Prot
                     (P05156.2)"
     Site            502
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21768352,
                     ECO:0007744|PDB:2XRC; propagated from UniProtKB/Swiss-Prot
                     (P05156.2)"
     CDS             1..601
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /coded_by="NM_001375278.1:29..1834"
                     /note="isoform 4 preproprotein is encoded by transcript
                     variant 4"
                     /db_xref="GeneID:3426"
                     /db_xref="HGNC:HGNC:5394"
                     /db_xref="MIM:217030"
ORIGIN      
        1 mkllhvfllf lcfhlrfckv tytsqedlve kkclakkyth lscdkvfcqp wqrciegtcv
       61 cklpyqcpkn gtavcatnrr sfptycqqks leclhpgtkf lnngtctaeg kfsvslkhgn
      121 tdsegivevk lvdqdktmfi cksswsmrea nvacldlgfq qgadtqrrfk lsdlsinste
      181 clhvhcrgle tslaectftk rrtmgyqdfa dvvcytqkad spmddffqcv ngkyisqmka
      241 cdgindcgdq sdelcckacq gkgfhcksgv cipsqyqcng evdcitgede vgcaaarhpt
      301 iqgfasvtqe eteiltadmd aerrriksll pklscgvknr mhirrkrivg gkraqlgdlp
      361 wqvaikdasg itcggiyigg cwiltaahcl raskthryqi wttvvdwihp dlkrivieyv
      421 driifhenyn agtyqndial iemkkdgnkk dcelprsipa cvpwspylfq pndtcivsgw
      481 grekdnervf slqwgevkli sncskfygnr fyekemecad ccsvaqagvq whdlsslqpp
      541 pprfkqfscl slpsswdyrh lpprpesrsv pqagvqwcnl sslqhpstsw vqvillpppp
      601 e
//
LOCUS       NP_001291351             362 aa            linear   PRI 16-MAR-2023
DEFINITION  sarcolemmal membrane-associated protein isoform d [Homo sapiens].
ACCESSION   NP_001291351
VERSION     NP_001291351.1
DBSOURCE    REFSEQ: accession NM_001304422.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 362)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   2  (residues 1 to 362)
  AUTHORS   Bae SJ, Ni L, Osinski A, Tomchick DR, Brautigam CA and Luo X.
  TITLE     SAV1 promotes Hippo kinase activation through antagonizing the PP2A
            phosphatase STRIPAK
  JOURNAL   Elife 6, e30278 (2017)
   PUBMED   29063833
  REMARK    GeneRIF: Here, the authors discover SAV1-mediated inhibition of the
            PP2A complex STRIPAK(SLMAP) as a key mechanism of MST1/2
            activation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 362)
  AUTHORS   Upadhyay R, Robay A, Fakhro K, Abi Khalil C, Zirie M, Jayyousi A,
            El-Shafei M, Kiss S, D'Amico DJ, Salit J, Staudt MR, O'Beirne SL,
            Chen X, Tuana B, Crystal RG and Ding H.
  TITLE     Role of SLMAP genetic variants in susceptibility of diabetes and
            diabetic retinopathy in Qatari population
  JOURNAL   J Transl Med 13, 61 (2015)
   PUBMED   25880194
  REMARK    GeneRIF: The data suggests the potential role of SLMAP single
            nucleotide polymorphism as a risk factor for the susceptibility of
            diabetic retinopathy among type 2 diabetes patients in the Qatari
            population.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 362)
  AUTHORS   Hauri S, Wepf A, van Drogen A, Varjosalo M, Tapon N, Aebersold R
            and Gstaiger M.
  TITLE     Interaction proteome of human Hippo signaling: modular control of
            the co-activator YAP1
  JOURNAL   Mol Syst Biol 9, 713 (2013)
   PUBMED   24366813
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 362)
  AUTHORS   Goudreault M, D'Ambrosio LM, Kean MJ, Mullin MJ, Larsen BG, Sanchez
            A, Chaudhry S, Chen GI, Sicheri F, Nesvizhskii AI, Aebersold R,
            Raught B and Gingras AC.
  TITLE     A PP2A phosphatase high density interaction network identifies a
            novel striatin-interacting phosphatase and kinase complex linked to
            the cerebral cavernous malformation 3 (CCM3) protein
  JOURNAL   Mol Cell Proteomics 8 (1), 157-171 (2009)
   PUBMED   18782753
REFERENCE   6  (residues 1 to 362)
  AUTHORS   Guzzo RM, Salih M, Moore ED and Tuana BS.
  TITLE     Molecular properties of cardiac tail-anchored membrane protein
            SLMAP are consistent with structural role in arrangement of
            excitation-contraction coupling apparatus
  JOURNAL   Am J Physiol Heart Circ Physiol 288 (4), H1810-H1819 (2005)
   PUBMED   15591093
REFERENCE   7  (residues 1 to 362)
  AUTHORS   Guzzo RM, Wigle J, Salih M, Moore ED and Tuana BS.
  TITLE     Regulated expression and temporal induction of the tail-anchored
            sarcolemmal-membrane-associated protein is critical for myoblast
            fusion
  JOURNAL   Biochem J 381 (Pt 3), 599-608 (2004)
   PUBMED   15086317
REFERENCE   8  (residues 1 to 362)
  AUTHORS   Wielowieyski PA, Sevinc S, Guzzo R, Salih M, Wigle JT and Tuana BS.
  TITLE     Alternative splicing, expression, and genomic structure of the 3'
            region of the gene encoding the sarcolemmal-associated proteins
            (SLAPs) defines a novel class of coiled-coil tail-anchored membrane
            proteins
  JOURNAL   J Biol Chem 275 (49), 38474-38481 (2000)
   PUBMED   10986292
REFERENCE   9  (residues 1 to 362)
  AUTHORS   Wigle JT, Demchyshyn L, Pratt MA, Staines WA, Salih M and Tuana BS.
  TITLE     Molecular cloning, expression, and chromosomal assignment of
            sarcolemmal-associated proteins. A family of acidic amphipathic
            alpha-helical proteins associated with the membrane
  JOURNAL   J Biol Chem 272 (51), 32384-32394 (1997)
   PUBMED   9405447
REFERENCE   10 (residues 1 to 362)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301690
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK304493.1, AC099777.2 and
            BQ022030.1.
            
            Summary: This gene encodes a component of a conserved
            striatin-interacting phosphatase and kinase complex. Striatin
            family complexes participate in a variety of cellular processes
            including signaling, cell cycle control, cell migration, Golgi
            assembly, and apoptosis. The protein encoded by this gene is a
            coiled-coil, tail-anchored membrane protein with a single
            C-terminal transmembrane domain that is posttranslationally
            inserted into membranes. Mutations in this gene are associated with
            Brugada syndrome, a cardiac channelopathy. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jul
            2015].
            
            Transcript Variant: This variant (4) represents use of an alternate
            promoter and therefore differs in the 5' UTR and 5' coding region,
            compared to variant 1. These differences cause translation
            initiation at a downstream start codon and result in an isoform (d)
            with a shorter N-terminus, compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.23166.1,
                                           SRR1803612.137805.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..362
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.3"
     Protein         1..362
                     /product="sarcolemmal membrane-associated protein isoform
                     d"
                     /note="sarcolemmal membrane-associated protein"
                     /calculated_mol_wt=41906
     Region          <19..329
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..362
                     /gene="SLMAP"
                     /gene_synonym="SLAP"
                     /coded_by="NM_001304422.3:189..1277"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="GeneID:7871"
                     /db_xref="HGNC:HGNC:16643"
                     /db_xref="MIM:602701"
ORIGIN      
        1 mdeqdlnepl akvsllkddl qgaqseieak qeiqhlrkel ieaqelarts kqkcfelqal
       61 leeerkayrn qveestkqiq vlqaqlqrlh idtenlreek dseitstrde llsardeill
      121 lhqaaakvas erdtdiaslq eelkkvrael erwrkaasey ekeitslqns fqlrcqqced
      181 qqreeatrlq geleklrkew naletechsl krenvllsse lqrqekelhn sqkqslelts
      241 dlsilqmsrk elenqvgslk eqhlrdsadl ktllskaenq akdvqkeyek tqtvlselkl
      301 kfemteqekq sitdelkqck nnlkllrekg nnkpwpwmpm laalvavtai vlyvpglara
      361 sp
//
LOCUS       NP_001264133             328 aa            linear   PRI 18-MAR-2023
DEFINITION  P2Y purinoceptor 6 isoform 1 [Homo sapiens].
ACCESSION   NP_001264133
VERSION     NP_001264133.1
DBSOURCE    REFSEQ: accession NM_001277204.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 328)
  AUTHORS   Dundee JM, Puigdellivol M, Butler R, Cockram TOJ and Brown GC.
  TITLE     P2Y6 receptor-dependent microglial phagocytosis of synapses
            mediates synaptic and memory loss in aging
  JOURNAL   Aging Cell 22 (2), e13761 (2023)
   PUBMED   36565471
  REMARK    GeneRIF: P2Y6 receptor-dependent microglial phagocytosis of
            synapses mediates synaptic and memory loss in aging.
REFERENCE   2  (residues 1 to 328)
  AUTHORS   Li Z, Gao Y, He C, Wei H, Zhang J, Zhang H, Hu L and Jiang W.
  TITLE     Purinergic Receptor P2Y6 Is a Negative Regulator of NK Cell
            Maturation and Function
  JOURNAL   J Immunol 207 (6), 1555-1565 (2021)
   PUBMED   34426542
  REMARK    GeneRIF: Purinergic Receptor P2Y6 Is a Negative Regulator of NK
            Cell Maturation and Function.
REFERENCE   3  (residues 1 to 328)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 328)
  AUTHORS   Brinson AE and Harden TK.
  TITLE     Differential regulation of the uridine nucleotide-activated P2Y4
            and P2Y6 receptors. SER-333 and SER-334 in the carboxyl terminus
            are involved in agonist-dependent phosphorylation desensitization
            and internalization of the P2Y4 receptor
  JOURNAL   J Biol Chem 276 (15), 11939-11948 (2001)
   PUBMED   11114308
REFERENCE   5  (residues 1 to 328)
  AUTHORS   Maier R, Glatz A, Mosbacher J and Bilbe G.
  TITLE     Cloning of P2Y6 cDNAs and identification of a pseudogene:
            comparison of P2Y receptor subtype expression in bone and brain
            tissues
  JOURNAL   Biochem Biophys Res Commun 240 (2), 298-302 (1997)
   PUBMED   9412455
REFERENCE   6  (residues 1 to 328)
  AUTHORS   Maier R, Glatz A, Mosbacher J and Bilbe G.
  TITLE     Cloning of P2Y6 cDNAs and identification of a pseudogene:
            comparison of P2Y receptor subtype expression in bone and brain
            tissues
  JOURNAL   Biochem Biophys Res Commun 237 (2), 297-302 (1997)
   PUBMED   9268704
REFERENCE   7  (residues 1 to 328)
  AUTHORS   Somers GR, Hammet F, Woollatt E, Richards RI, Southey MC and Venter
            DJ.
  TITLE     Chromosomal localization of the human P2y6 purinoceptor gene and
            phylogenetic analysis of the P2y purinoceptor family
  JOURNAL   Genomics 44 (1), 127-130 (1997)
   PUBMED   9286708
REFERENCE   8  (residues 1 to 328)
  AUTHORS   Pidlaoan LV, Jin J, Sandhu AK, Athwal RS and Kunapuli SP.
  TITLE     Colocalization of P2Y2 and P2Y6 receptor genes at human chromosome
            11q13.3-14.1
  JOURNAL   Somat Cell Mol Genet 23 (4), 291-296 (1997)
   PUBMED   9542531
REFERENCE   9  (residues 1 to 328)
  AUTHORS   Nicholas RA, Watt WC, Lazarowski ER, Li Q and Harden K.
  TITLE     Uridine nucleotide selectivity of three phospholipase C-activating
            P2 receptors: identification of a UDP-selective, a UTP-selective,
            and an ATP- and UTP-specific receptor
  JOURNAL   Mol Pharmacol 50 (2), 224-229 (1996)
   PUBMED   8700127
  REMARK    GeneRIF: Using rat P2Y6 recombinant protein expressed in human
            astrocytoma cells, the authors found that the P2Y6 receptor is
            highly selective for UDP over UTP.
REFERENCE   10 (residues 1 to 328)
  AUTHORS   Communi D, Parmentier M and Boeynaems JM.
  TITLE     Cloning, functional expression and tissue distribution of the human
            P2Y6 receptor
  JOURNAL   Biochem Biophys Res Commun 222 (2), 303-308 (1996)
   PUBMED   8670200
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF218005.1, BC009391.2 and
            HY271000.1.
            
            Summary: The product of this gene belongs to the family of P2
            receptors, which is activated by extracellular nucleotides and
            subdivided into P2X ligand-gated ion channels and P2Y G-protein
            coupled receptors. This family has several receptor subtypes with
            different pharmacological selectivity, which overlaps in some
            cases, for various adenosine and uridine nucleotides. This
            receptor, which is a G-protein coupled receptor, is responsive to
            UDP, partially responsive to UTP and ADP, and not responsive to
            ATP. It is proposed that this receptor mediates inflammatory
            responses. Alternative splicing results in multiple transcript
            variants that encode different protein isoforms. [provided by
            RefSeq, Mar 2013].
            
            Transcript Variant: This variant (5) differs in the 5' UTR compared
            to variant 1. Variants 1,2,3,5,6,7, and 8 encode the same isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.2105872.1, AF007893.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000540124.6/ ENSP00000442551.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..328
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..328
                     /product="P2Y purinoceptor 6 isoform 1"
                     /note="P2Y6 receptor; G-coupled nucleotide receptor; P2
                     purinoceptor; P2Y purinoceptor 6; pyrimidinergic receptor
                     P2Y, G-protein coupled, 6"
                     /calculated_mol_wt=36298
     Site            5
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15077.1)"
     Region          27..312
                     /region_name="7tmA_P2Y6"
                     /note="P2Y purinoceptor 6, member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15379"
                     /db_xref="CDD:320501"
     Region          27..54
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320501"
     Site            28..48
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15077.1)"
     Region          61..86
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320501"
     Site            63..83
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15077.1)"
     Site            order(82,85..86,99..104,106..107,110,156,158..162,176,
                     178..180,189,192..194,196..198,200..201,252,255..256,
                     258..259,262,279..280,282..284,287,290..291)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320501"
     Region          99..129
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320501"
     Site            102..122
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15077.1)"
     Region          142..164
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320501"
     Site            145..165
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15077.1)"
     Region          189..218
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320501"
     Site            195..215
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15077.1)"
     Region          232..262
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320501"
     Site            237..257
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15077.1)"
     Region          280..305
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320501"
     Site            281..303
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15077.1)"
     CDS             1..328
                     /gene="P2RY6"
                     /gene_synonym="P2Y6"
                     /coded_by="NM_001277204.2:250..1236"
                     /note="isoform 1 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS8220.1"
                     /db_xref="GeneID:5031"
                     /db_xref="HGNC:HGNC:8543"
                     /db_xref="MIM:602451"
ORIGIN      
        1 mewdngtgqa lglppttcvy renfkqlllp pvysavlaag lplnicvitq ictsrraltr
       61 tavytlnlal adllyacslp lliynyaqgd hwpfgdfacr lvrflfyanl hgsilfltci
      121 sfqrylgich plapwhkrgg rraawlvcva vwlavttqcl ptaifaatgi qrnrtvcydl
      181 sppalathym pygmaltvig fllpfaalla cycllacrlc rqdgpaepva qerrgkaarm
      241 avvvaaafai sflpfhitkt aylavrstpg vpctvleafa aaykgtrpfa sansvldpil
      301 fyftqkkfrr rphellqklt akwqrqgr
//
LOCUS       NP_005897                623 aa            linear   PRI 19-MAR-2023
DEFINITION  serine/threonine-protein kinase MAK isoform 1 [Homo sapiens].
ACCESSION   NP_005897 XP_016866353
VERSION     NP_005897.1
DBSOURCE    REFSEQ: accession NM_005906.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 623)
  AUTHORS   Gray JM, Orlans HO, Shanks M, Clouston P and MacLaren RE.
  TITLE     Slowly progressive retinitis pigmentosa caused by two novel
            mutations in the MAK gene
  JOURNAL   Ophthalmic Genet 39 (4), 508-511 (2018)
   PUBMED   29781741
  REMARK    GeneRIF: The natural history of this individual's retinitis
            pigmentosa (RP) is consistent with previously described MAK
            mutations, being significantly milder than that associated with
            other photoreceptor ciliopathies. We suggest inclusion of MAK as
            part of wider genetic testing in all individuals presenting with
            RP.
REFERENCE   2  (residues 1 to 623)
  AUTHORS   Kimchi A, Khateb S, Wen R, Guan Z, Obolensky A, Beryozkin A,
            Kurtzman S, Blumenfeld A, Pras E, Jacobson SG, Ben-Yosef T, Newman
            H, Sharon D and Banin E.
  TITLE     Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish
            Population: Genetic and Clinical Aspects
  JOURNAL   Ophthalmology 125 (5), 725-734 (2018)
   PUBMED   29276052
  REMARK    GeneRIF: The clinical data show that in general, patients with
            biallelic MAK mutations had a later age of onset and a milder
            retinal phenotype compared with patients with biallelic DHDDS
            mutations.
            Erratum:[Ophthalmology. 2020 Jan;127(1):139. PMID: 31864473]
REFERENCE   3  (residues 1 to 623)
  AUTHORS   Lai YH, Capasso JE, Kaiser R and Levin AV.
  TITLE     Intraretinal cystoid spaces in a patient with retinitis pigmentosa
            due to mutation in the MAK gene
  JOURNAL   Ophthalmic Genet 37 (4), 424-426 (2016)
   PUBMED   26894652
  REMARK    GeneRIF: We report the first case of leaking intraretinal cystoid
            spaces due to mutation in MAK. Mak regulates microtubule stability
            via phosphorylating RP1. Abnormal Mak may impact retinal
            photoreceptor ciliary length and subcompartmentalization.
REFERENCE   4  (residues 1 to 623)
  AUTHORS   Bujakowska KM, White J, Place E, Consugar M and Comander J.
  TITLE     Efficient In Silico Identification of a Common Insertion in the MAK
            Gene which Causes Retinitis Pigmentosa
  JOURNAL   PLoS One 10 (11), e0142614 (2015)
   PUBMED   26558903
  REMARK    GeneRIF: One patient was homozygous for the insertion, one compound
            heterozygous with a missense change on the other allele (c. 46G>A;
            p.Gly16Arg), and three were heterozygous carriers.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 623)
  AUTHORS   van Huet RA, Siemiatkowska AM, Ozgul RK, Yucel D, Hoyng CB, Banin
            E, Blumenfeld A, Rotenstreich Y, Riemslag FC, den Hollander AI,
            Theelen T, Collin RW, van den Born LI and Klevering BJ.
  TITLE     Retinitis pigmentosa caused by mutations in the ciliary MAK gene is
            relatively mild and is not associated with apparent extra-ocular
            features
  JOURNAL   Acta Ophthalmol 93 (1), 83-94 (2015)
   PUBMED   25385675
  REMARK    GeneRIF: Nonsense and missense mutations in MAK give rise to a
            non-syndromic recessive RP phenotype without apparent extra-ocular
            features.
REFERENCE   6  (residues 1 to 623)
  AUTHORS   Xia L, Robinson D, Ma AH, Chen HC, Wu F, Qiu Y and Kung HJ.
  TITLE     Identification of human male germ cell-associated kinase, a kinase
            transcriptionally activated by androgen in prostate cancer cells
  JOURNAL   J Biol Chem 277 (38), 35422-35433 (2002)
   PUBMED   12084720
  REMARK    GeneRIF: identification and transcriptional activation by androgen
            in prostate cancer cells
REFERENCE   7  (residues 1 to 623)
  AUTHORS   Jinno A, Tanaka K, Matsushime H, Haneji T and Shibuya M.
  TITLE     Testis-specific mak protein kinase is expressed specifically in the
            meiotic phase in spermatogenesis and is associated with a
            210-kilodalton cellular phosphoprotein
  JOURNAL   Mol Cell Biol 13 (7), 4146-4156 (1993)
   PUBMED   8321219
REFERENCE   8  (residues 1 to 623)
  AUTHORS   Bladt F and Birchmeier C.
  TITLE     Characterization and expression analysis of the murine rck gene: a
            protein kinase with a potential function in sensory cells
  JOURNAL   Differentiation 53 (2), 115-122 (1993)
   PUBMED   8359591
REFERENCE   9  (residues 1 to 623)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   10 (residues 1 to 623)
  AUTHORS   Matsushime H, Jinno A, Takagi N and Shibuya M.
  TITLE     A novel mammalian protein kinase gene (mak) is highly expressed in
            testicular germ cells at and after meiosis
  JOURNAL   Mol Cell Biol 10 (5), 2261-2268 (1990)
   PUBMED   2183027
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL024498.13.
            On Dec 20, 2019 this sequence version replaced XP_016866353.1.
            
            Summary: The product of this gene is a serine/threonine protein
            kinase related to kinases involved in cell cycle regulation.
            Studies of the mouse and rat homologs have localized the kinase to
            the chromosomes during meiosis in spermatogenesis, specifically to
            the synaptonemal complex that exists while homologous chromosomes
            are paired. Mutations in this gene have been associated with
            ciliary defects resulting in retinitis pigmentosa 62. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3636102.1,
                                           SRR14038192.3807040.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..623
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.2"
     Protein         1..623
                     /product="serine/threonine-protein kinase MAK isoform 1"
                     /EC_number="2.7.11.1"
                     /note="serine/threonine protein kinase MAK; testicular
                     secretory protein Li 28"
                     /calculated_mol_wt=70450
     Region          4..284
                     /region_name="STKc_MAK_like"
                     /note="Catalytic domain of Male germ cell-Associated
                     Kinase-like Serine/Threonine Kinases; cd07830"
                     /db_xref="CDD:270824"
     Site            order(10..13,18,31,33,49,63,79..82,85,87..88,125,127,
                     129..130,132,143,146,157,159..162,164,202)
                     /site_type="active"
                     /db_xref="CDD:270824"
     Site            order(10..14,18,31,33,63,79..82,85,125,127,129..130,132,
                     143)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270824"
     Site            order(49,87,125,127,146,157,159..162,164,202)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270824"
     Site            order(142..152,155..164)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270824"
     Site            157
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:21986944; propagated from
                     UniProtKB/Swiss-Prot (P20794.2)"
     Site            159
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:21986944; propagated from
                     UniProtKB/Swiss-Prot (P20794.2)"
     Region          328..396
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P20794.2)"
     Region          416..469
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P20794.2)"
     CDS             1..623
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /coded_by="NM_005906.6:267..2138"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS4516.1"
                     /db_xref="GeneID:4117"
                     /db_xref="HGNC:HGNC:6816"
                     /db_xref="MIM:154235"
ORIGIN      
        1 mnryttmrql gdgtygsvlm gksnesgelv aikrmkrkfy swdecmnlre vkslkklnha
       61 nviklkevir endhlyfife ymkenlyqlm kdrnklfpes virnimyqil qglafihkhg
      121 ffhrdmkpen llcmgpelvk iadfglarel rsqppytdyv strwyrapev llrssvyssp
      181 idvwavgsim aelymlrplf pgtsevdeif kicqvlgtpk ksdwpegyql assmnfrfpq
      241 cvpinlktli pnasneaiql mtemlnwdpk krptasqalk hpyfqvgqvl gpssnhlesk
      301 qslnkqlqpl eskpslveve pkplpdiidq vvgqpqpkts qqplqpiqpp qnlsvqqppk
      361 qqsqekppqt lfpsivknmp tkpngtlshk sgrrrwgqti fksgdsweel edydfgashs
      421 kkpsmgvfke krkkdspfrl pepvpsgsnh stgenkslpa vtslksdsel staptskqyy
      481 lkqsrylpgv npkkvslias gkeinphtws nqlfpkslgp vgaelafkrs nagnlgsyat
      541 ynqsgyipsf lkkevqsagq rihlaplnat aseytwntkt grgqfsgrty nptaknlniv
      601 nraqpipsvh grtdwvakyg ghr
//
LOCUS       NP_001371691             675 aa            linear   PRI 19-MAR-2023
DEFINITION  microtubule-associated protein 4 isoform 127 [Homo sapiens].
ACCESSION   NP_001371691
VERSION     NP_001371691.1
DBSOURCE    REFSEQ: accession NM_001384762.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 675)
  AUTHORS   Wang L, Paudyal SC, Kang Y, Owa M, Liang FX, Spektor A, Knaut H,
            Sanchez I and Dynlacht BD.
  TITLE     Regulators of tubulin polyglutamylation control nuclear shape and
            cilium disassembly by balancing microtubule and actin assembly
  JOURNAL   Cell Res 32 (2), 190-209 (2022)
   PUBMED   34782749
REFERENCE   2  (residues 1 to 675)
  AUTHORS   Thapa N, Chen M, Horn HT, Choi S, Wen T and Anderson RA.
  TITLE     Phosphatidylinositol-3-OH kinase signalling is spatially organized
            at endosomal compartments by microtubule-associated protein 4
  JOURNAL   Nat Cell Biol 22 (11), 1357-1370 (2020)
   PUBMED   33139939
  REMARK    GeneRIF: Phosphatidylinositol-3-OH kinase signalling is spatially
            organized at endosomal compartments by microtubule-associated
            protein 4.
REFERENCE   3  (residues 1 to 675)
  AUTHORS   Guo Y, Zhang X, Xu Q, Gong F, Shi X, Li C, Huang R, Nie F, Zhu W,
            Li J, Tang J, Li R, Zhang L, Chen L and Ma RZ.
  TITLE     Human Papillomavirus 16 oncoprotein E7 retards mitotic progression
            by blocking Mps1-MAP4 signaling cascade
  JOURNAL   Oncogene 38 (31), 5959-5970 (2019)
   PUBMED   31253867
  REMARK    GeneRIF: study reveals a molecular mechanism by which HPV16E7
            perturbs host mitotic progression by interfering Mps1-MAP4
            signaling cascade, which results in an extended infection window
            and may facilitate the persistent HPV16 infection
REFERENCE   4  (residues 1 to 675)
  AUTHORS   Zhang S, Deen S, Storr SJ, Yao A and Martin SG.
  TITLE     Expression of Syk and MAP4 proteins in ovarian cancer
  JOURNAL   J Cancer Res Clin Oncol 145 (4), 909-919 (2019)
   PUBMED   30737623
  REMARK    GeneRIF: Results suggest that Syk, MAP4, and calpain-1 expression
            are correlated with each other and these proteins may be involved
            in early stages of tumour spread.
REFERENCE   5  (residues 1 to 675)
  AUTHORS   Shigematsu H, Imasaki T, Doki C, Sumi T, Aoki M, Uchikubo-Kamo T,
            Sakamoto A, Tokuraku K, Shirouzu M and Nitta R.
  TITLE     Structural insight into microtubule stabilization and kinesin
            inhibition by Tau family MAPs
  JOURNAL   J Cell Biol 217 (12), 4155-4163 (2018)
   PUBMED   30275105
  REMARK    GeneRIF: The strongest bond of MAP4 was found around the
            intertubulin-dimer interface such that MAP4 coexists on the
            microtubule with kinesin-1 bound to the intratubulin-dimer
            interface as well.
REFERENCE   6  (residues 1 to 675)
  AUTHORS   Ookata K, Hisanaga S, Bulinski JC, Murofushi H, Aizawa H, Itoh TJ,
            Hotani H, Okumura E, Tachibana K and Kishimoto T.
  TITLE     Cyclin B interaction with microtubule-associated protein 4 (MAP4)
            targets p34cdc2 kinase to microtubules and is a potential regulator
            of M-phase microtubule dynamics
  JOURNAL   J Cell Biol 128 (5), 849-862 (1995)
   PUBMED   7876309
REFERENCE   7  (residues 1 to 675)
  AUTHORS   Chapin SJ, Lue CM, Yu MT and Bulinski JC.
  TITLE     Differential expression of alternatively spliced forms of MAP4: a
            repertoire of structurally different microtubule-binding domains
  JOURNAL   Biochemistry 34 (7), 2289-2301 (1995)
   PUBMED   7857940
REFERENCE   8  (residues 1 to 675)
  AUTHORS   Chapin SJ and Bulinski JC.
  TITLE     Microtubule stabilization by assembly-promoting
            microtubule-associated proteins: a repeat performance
  JOURNAL   Cell Motil Cytoskeleton 23 (4), 236-243 (1992)
   PUBMED   1477887
  REMARK    Review article
REFERENCE   9  (residues 1 to 675)
  AUTHORS   West RR, Tenbarge KM and Olmsted JB.
  TITLE     A model for microtubule-associated protein 4 structure. Domains
            defined by comparisons of human, mouse, and bovine sequences
  JOURNAL   J Biol Chem 266 (32), 21886-21896 (1991)
   PUBMED   1718985
REFERENCE   10 (residues 1 to 675)
  AUTHORS   Chapin SJ and Bulinski JC.
  TITLE     Non-neuronal 210 x 10(3) Mr microtubule-associated protein (MAP4)
            contains a domain homologous to the microtubule-binding domains of
            neuronal MAP2 and tau
  JOURNAL   J Cell Sci 98 (Pt 1), 27-36 (1991)
   PUBMED   1905296
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124916.3 and AC139667.5.
            
            Summary: The protein encoded by this gene is a major non-neuronal
            microtubule-associated protein. This protein contains a domain
            similar to the microtubule-binding domains of neuronal
            microtubule-associated protein (MAP2) and microtubule-associated
            protein tau (MAPT/TAU). This protein promotes microtubule assembly,
            and has been shown to counteract destabilization of interphase
            microtubule catastrophe promotion. Cyclin B was found to interact
            with this protein, which targets cell division cycle 2 (CDC2)
            kinase to microtubules. The phosphorylation of this protein affects
            microtubule properties and cell cycle progression. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Aug 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2018238.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..675
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..675
                     /product="microtubule-associated protein 4 isoform 127"
                     /note="MAP-4"
                     /calculated_mol_wt=69935
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.8,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (P27816.3)"
     Site            5
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P27816.3)"
     Site            14
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P27816.3)"
     Site            28
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P27816.3)"
     Region          50..100
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P27816.3)"
     Site            60
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P27816.3)"
     Site            99
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P27816.3)"
     Region          <197..511
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <523..544
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          546..575
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          577..607
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     CDS             1..675
                     /gene="MAP4"
                     /coded_by="NM_001384762.1:96..2123"
                     /note="isoform 127 is encoded by transcript variant 35"
                     /db_xref="GeneID:4134"
                     /db_xref="HGNC:HGNC:6862"
                     /db_xref="MIM:157132"
ORIGIN      
        1 madlsladal tepspdiege ikrdfiatle aeafddvvge tvgktdyipl ldvdektgns
       61 eskkkpcset sqiedtpssk ptllangghg vegsdttgsp tefleekmay qeypnsqnwp
      121 edtnfcfqpe qvvdpiqtdp fkmyhdddla dlvfpssata dtsifagqnd plkdsygmsp
      181 cntavvpqgw svealnsphs esfvspeava eppqptaetv tgtgkkcslp aeedsvlekl
      241 gerkpcnsqp selssetsgi arpeegrpvv sgtgndittp pnkelppspe kktkplattq
      301 paktstskak tqptslpkqp apttigglnk kpmslasglv paappkrpav asarpsilps
      361 kdvkpkpiad akapekrasp skpasapasr sgskstqtva ktttaaavas tgpssrspst
      421 llpkkptaik tegkpaevkk mtaksvpadl srpkststss mkktttlsgt apaagvvpsr
      481 vkatpmpsrp sttpfidkkp tsakpssttp rlsrlatnts apdlknvrsk vgstenikhq
      541 pgggrvqiqn kkvdiskvss kcgskanikh kpgggdvkie sqklnfkeka qakvgsldnv
      601 ghlpaggavk tegggseapl cpgppageep aiseaapeag aptsasglng hptlsgggdq
      661 reaqtldsqi qetsi
//
LOCUS       NP_001177392             373 aa            linear   PRI 19-MAR-2023
DEFINITION  cystathionine gamma-lyase isoform 3 [Homo sapiens].
ACCESSION   NP_001177392
VERSION     NP_001177392.1
DBSOURCE    REFSEQ: accession NM_001190463.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 373)
  AUTHORS   Zhang Q, Gao Y, Zhang Y, Jing M, Wang D, Wang Y, Khattak S, Qi H,
            Cai C, Zhang J, Ngowi EE, Khan NH, Li T, Ji A, Jiang Q, Ji X, Li Y
            and Wu D.
  TITLE     Cystathionine gamma-lyase mediates cell proliferation, migration,
            and invasion of nasopharyngeal carcinoma
  JOURNAL   Oncogene 41 (49), 5238-5252 (2022)
   PUBMED   36310322
  REMARK    GeneRIF: Cystathionine gamma-lyase mediates cell proliferation,
            migration, and invasion of nasopharyngeal carcinoma.
REFERENCE   2  (residues 1 to 373)
  AUTHORS   Fan K, Zhang S, Ni X, Shen S, Wang J, Sun W, Suo T, Liu H, Ni X and
            Liu H.
  TITLE     KRAS G12D mutation eliminates reactive oxygen species through the
            Nrf2/CSE/H 2S axis and contributes to pancreatic cancer growth
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 54 (11), 1-9 (2022)
   PUBMED   36514219
  REMARK    GeneRIF: KRAS G12D mutation eliminates reactive oxygen species
            through the Nrf2/CSE/H 2S axis and contributes to pancreatic cancer
            growth.
REFERENCE   3  (residues 1 to 373)
  AUTHORS   Hu HJ, Qiu J, Zhang C, Tang ZH, Qu SL and Jiang ZS.
  TITLE     Hydrogen sulfide improves ox-LDL-induced expression levels of
            Lp-PLA2 in THP-1 monocytes via the p38MAPK pathway
  JOURNAL   Mol Med Rep 23 (5) (2021)
   PUBMED   33760156
  REMARK    GeneRIF: Hydrogen sulfide improves oxLDLinduced expression levels
            of LpPLA2 in THP1 monocytes via the p38MAPK pathway.
REFERENCE   4  (residues 1 to 373)
  AUTHORS   Liu Y, Wang L, Zhang X, Deng Y, Pan L, Li H, Shi X and Wang T.
  TITLE     A novel cystathionine gamma-lyase inhibitor, I194496, inhibits the
            growth and metastasis of human TNBC via downregulating multiple
            signaling pathways
  JOURNAL   Sci Rep 11 (1), 8963 (2021)
   PUBMED   33903672
  REMARK    GeneRIF: A novel cystathionine gamma-lyase inhibitor, I194496,
            inhibits the growth and metastasis of human TNBC via downregulating
            multiple signaling pathways.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 373)
  AUTHORS   Zhou W, Yang Q, Yu H, Zhang Q, Zou Y, Chen X, Yang Z, Qu Y, Tan R,
            Li L, Zhu S, He Y, Luo B and Gao Y.
  TITLE     Association between an indel polymorphism within CTH and the risk
            of sudden cardiac death in a Chinese population
  JOURNAL   Leg Med (Tokyo) 46, 101736 (2020)
   PUBMED   32563979
  REMARK    GeneRIF: Association between an indel polymorphism within CTH and
            the risk of sudden cardiac death in a Chinese population.
REFERENCE   6  (residues 1 to 373)
  AUTHORS   Yang G, Cao K, Wu L and Wang R.
  TITLE     Cystathionine gamma-lyase overexpression inhibits cell
            proliferation via a H2S-dependent modulation of ERK1/2
            phosphorylation and p21Cip/WAK-1
  JOURNAL   J Biol Chem 279 (47), 49199-49205 (2004)
   PUBMED   15347670
  REMARK    GeneRIF: Cystathionine gamma-lyase has a role in regulating cell
            proliferation via a H2S-dependent modulation of ERK1/2
            phosphorylation and p21Cip/WAK-1
REFERENCE   7  (residues 1 to 373)
  AUTHORS   Wang J, Huff AM, Spence JD and Hegele RA.
  TITLE     Single nucleotide polymorphism in CTH associated with variation in
            plasma homocysteine concentration
  JOURNAL   Clin Genet 65 (6), 483-486 (2004)
   PUBMED   15151507
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 373)
  AUTHORS   Wang J and Hegele RA.
  TITLE     Genomic basis of cystathioninuria (MIM 219500) revealed by multiple
            mutations in cystathionine gamma-lyase (CTH)
  JOURNAL   Hum Genet 112 (4), 404-408 (2003)
   PUBMED   12574942
  REMARK    GeneRIF: two nonsense mutations, namely exon 8 c.940-941delCT and
            exon 11 c.1220delC, and two missense mutations, namely exon 2
            c.356C>T (T67I) and exon 7 c.874C>G (Q240E)were found in four
            probands with cystathioninuria
REFERENCE   9  (residues 1 to 373)
  AUTHORS   Steegborn C, Clausen T, Sondermann P, Jacob U, Worbs M, Marinkovic
            S, Huber R and Wahl MC.
  TITLE     Kinetics and inhibition of recombinant human cystathionine
            gamma-lyase. Toward the rational control of transsulfuration
  JOURNAL   J Biol Chem 274 (18), 12675-12684 (1999)
   PUBMED   10212249
REFERENCE   10 (residues 1 to 373)
  AUTHORS   Lu Y, O'Dowd BF, Orrego H and Israel Y.
  TITLE     Cloning and nucleotide sequence of human liver cDNA encoding for
            cystathionine gamma-lyase
  JOURNAL   Biochem Biophys Res Commun 189 (2), 749-758 (1992)
   PUBMED   1339280
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK303946.1, BC015807.2 and
            AL354872.9.
            
            Summary: This gene encodes a cytoplasmic enzyme in the
            trans-sulfuration pathway that converts cystathione derived from
            methionine into cysteine. Glutathione synthesis in the liver is
            dependent upon the availability of cysteine. Mutations in this gene
            cause cystathioninuria. Alternative splicing of this gene results
            in three transcript variants encoding different isoforms. [provided
            by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (3) lacks an in-frame exon in the
            coding region, compared to variant 1, resulting in a shorter
            isoform (3).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK303946.1, DRR138512.525844.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154529, SAMEA2162823
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..373
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     Protein         1..373
                     /product="cystathionine gamma-lyase isoform 3"
                     /EC_number="4.4.1.1"
                     /EC_number="4.4.1.2"
                     /note="homoserine deaminase; homoserine dehydratase;
                     cysteine desulfhydrase; cystathionase (cystathionine
                     gamma-lyase); gamma-cystathionase; cysteine-protein
                     sulfhydrase; homocysteine desulfhydrase"
                     /calculated_mol_wt=41129
     Region          19..347
                     /region_name="Cys_Met_Meta_PP"
                     /note="Cys/Met metabolism PLP-dependent enzyme; pfam01053"
                     /db_xref="CDD:395837"
     Site            180
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:99738"
     CDS             1..373
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /coded_by="NM_001190463.2:149..1270"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS53333.1"
                     /db_xref="GeneID:1491"
                     /db_xref="HGNC:HGNC:2501"
                     /db_xref="MIM:607657"
ORIGIN      
        1 mqekdassqg flphfqhfat qaihvgqdpe qwtsravvpp islsttfkqg apgqhsgfey
       61 srsgnptrnc lekavaaldg akyctnryfr qvasefglki sfvdcskikl leaaitpetk
      121 lvwietptnp tqkvidiegc ahivhkhgdi ilvvdntfms pyfqrplalg adismysatk
      181 ymnghsdvvm glvsvncesl hnrlrflqns lgavpspidc ylcnrglktl hvrmekhfkn
      241 gmavaqfles npwvekviyp glpshpqhel vkrqctgctg mvtfyikgtl qhaeiflknl
      301 klftlaeslg gfeslaelpa imthasvlkn drdvlgisdt lirlsvgled eedlledldq
      361 alkaahppsg shs
//
LOCUS       NP_001349791            2071 aa            linear   PRI 19-MAR-2023
DEFINITION  phosphatidylinositol 4-kinase alpha isoform 2 [Homo sapiens].
ACCESSION   NP_001349791 XP_005261691
VERSION     NP_001349791.1
DBSOURCE    REFSEQ: accession NM_001362862.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2071)
  AUTHORS   Zhang K, Kang L, Zhang H, Bai L, Pang H, Liu Q, Zhang X, Chen D, Yu
            H, Lv Y, Gao M, Liu Y, Gai Z, Wang D and Li X.
  TITLE     A synonymous mutation in PI4KA impacts the transcription and
            translation process of gene expression
  JOURNAL   Front Immunol 13, 987666 (2022)
   PUBMED   36341355
  REMARK    GeneRIF: A synonymous mutation in <i>PI4KA</i> impacts the
            transcription and translation process of gene expression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 2071)
  AUTHORS   Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS,
            Accogli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla MP, Chioza
            BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling
            M, Agamanolis D, Ward Melver C, Cox H, Elawad M, Marton T, Wakeling
            MN, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van
            Meerbeke S, Walsh Vockley C, Butte MJ, Acar U, van der Knaap MS,
            Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH,
            De Camilli P, Wolf NI and Baple EL.
  TITLE     Biallelic PI4KA variants cause neurological, intestinal and
            immunological disease
  JOURNAL   Brain 144 (12), 3597-3610 (2021)
   PUBMED   34415310
  REMARK    GeneRIF: Biallelic PI4KA variants cause neurological, intestinal
            and immunological disease.
REFERENCE   3  (residues 1 to 2071)
  AUTHORS   Verdura E, Rodriguez-Palmero A, Velez-Santamaria V, Planas-Serra L,
            de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini
            F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacon
            A, Michaud V, Goizet C, Ruiz M, Schluter A, Rouvet I, Sala-Coromina
            J, Fossati C, Iascone M, Canonico F, Marce-Grau A, de Souza P,
            Adams DR, Casasnovas C, Rehm HL, Mefford HC, Gonzalez
            Gutierrez-Solana L, Brusco A, Koenig M, Macaya A and Pujol A.
  TITLE     Biallelic PI4KA variants cause a novel neurodevelopmental syndrome
            with hypomyelinating leukodystrophy
  JOURNAL   Brain 144 (9), 2659-2669 (2021)
   PUBMED   34415322
  REMARK    GeneRIF: Biallelic PI4KA variants cause a novel neurodevelopmental
            syndrome with hypomyelinating leukodystrophy.
REFERENCE   4  (residues 1 to 2071)
  AUTHORS   Adhikari H, Kattan WE, Kumar S, Zhou P, Hancock JF and Counter CM.
  TITLE     Oncogenic KRAS is dependent upon an EFR3A-PI4KA signaling axis for
            potent tumorigenic activity
  JOURNAL   Nat Commun 12 (1), 5248 (2021)
   PUBMED   34504076
  REMARK    GeneRIF: Oncogenic KRAS is dependent upon an EFR3A-PI4KA signaling
            axis for potent tumorigenic activity.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 2071)
  AUTHORS   Ziyad S, Riordan JD, Cavanaugh AM, Su T, Hernandez GE, Hilfenhaus
            G, Morselli M, Huynh K, Wang K, Chen JN, Dupuy AJ and Iruela-Arispe
            ML.
  TITLE     A Forward Genetic Screen Targeting the Endothelium Reveals a
            Regulatory Role for the Lipid Kinase Pi4ka in Myelo- and
            Erythropoiesis
  JOURNAL   Cell Rep 22 (5), 1211-1224 (2018)
   PUBMED   29386109
  REMARK    GeneRIF: we provide evidence linking PI4KAP2, previously considered
            a pseudogene, to human myeloid and erythroid leukemia.
REFERENCE   6  (residues 1 to 2071)
  AUTHORS   Kauffmann-Zeh A, Thomas GM, Ball A, Prosser S, Cunningham E,
            Cockcroft S and Hsuan JJ.
  TITLE     Requirement for phosphatidylinositol transfer protein in epidermal
            growth factor signaling
  JOURNAL   Science 268 (5214), 1188-1190 (1995)
   PUBMED   7761838
REFERENCE   7  (residues 1 to 2071)
  AUTHORS   Wong K and Cantley LC.
  TITLE     Cloning and characterization of a human phosphatidylinositol
            4-kinase
  JOURNAL   J Biol Chem 269 (46), 28878-28884 (1994)
   PUBMED   7961848
REFERENCE   8  (residues 1 to 2071)
  AUTHORS   Prasad KV, Kapeller R, Janssen O, Repke H, Duke-Cohan JS, Cantley
            LC and Rudd CE.
  TITLE     Phosphatidylinositol (PI) 3-kinase and PI 4-kinase binding to the
            CD4-p56lck complex: the p56lck SH3 domain binds to PI 3-kinase but
            not PI 4-kinase
  JOURNAL   Mol Cell Biol 13 (12), 7708-7717 (1993)
   PUBMED   8246987
REFERENCE   9  (residues 1 to 2071)
  AUTHORS   Baple,E.L., Salter,C., Uhlig,H., Wolf,N.I. and Crosby,A.H.
  TITLE     PI4KA-Related Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   35951779
REFERENCE   10 (residues 1 to 2071)
  AUTHORS   Graziani A, Ling LE, Endemann G, Carpenter CL and Cantley LC.
  TITLE     Purification and characterization of human erythrocyte
            phosphatidylinositol 4-kinase. Phosphatidylinositol 4-kinase and
            phosphatidylinositol 3-monophosphate 4-kinase are distinct enzymes
  JOURNAL   Biochem J 284 (Pt 1) (Pt 1), 39-45 (1992)
   PUBMED   1318025
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007308.13, AC007050.25 and
            BU685224.1.
            On May 1, 2018 this sequence version replaced XP_005261691.1.
            
            Summary: This gene encodes a phosphatidylinositol (PI) 4-kinase
            which catalyzes the first committed step in the biosynthesis of
            phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases
            have been classified into two types, II and III, based on their
            molecular mass, and modulation by detergent and adenosine. The
            protein encoded by this gene is a type III enzyme that is not
            inhibited by adenosine. Alternative splicing results in multiple
            transcript variants encoding distinct isoforms. [provided by
            RefSeq, Apr 2018].
            
            Transcript Variant: This variant (2) lacks an in-frame exon,
            compared to variant 1, and encodes a shorter protein (isoform 2),
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3327496.1,
                                           SRR11853564.18206.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: lack of evidence for use of
                                                upstream AUG
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2071
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     Protein         1..2071
                     /product="phosphatidylinositol 4-kinase alpha isoform 2"
                     /EC_number="2.7.1.67"
                     /note="phosphatidylinositol 4-kinase, type III, alpha;
                     phosphatidylinositol 4-kinase 230; PI4-kinase alpha;
                     ptdIns-4-kinase alpha; phosphatidylinositol 4-kinase,
                     catalytic, alpha; testicular secretory protein Li 35;
                     phosphatidylinositol 4-kinase III alpha;
                     phosphatidylinositol 4-kinase IIII+/-"
                     /calculated_mol_wt=233185
     Site            230
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42356.4)"
     Site            256
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42356.4)"
     Site            257
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42356.4)"
     Site            259
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:E9Q3L2; propagated from
                     UniProtKB/Swiss-Prot (P42356.4)"
     Site            260
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P42356.4)"
     Site            262
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42356.4)"
     Site            265
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42356.4)"
     Region          378..1483
                     /region_name="PI4K_N"
                     /note="PI4-kinase N-terminal region; pfam19274"
                     /db_xref="CDD:437106"
     Site            429
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42356.4)"
     Site            1123
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42356.4)"
     Site            1405
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P42356.4)"
     Region          1516..1691
                     /region_name="PI4Ka"
                     /note="Phosphoinositide 4-kinase(PI4K), accessory domain
                     (PIK domain); PIK domain is conserved in PI3 and
                     PI4-kinases. Its role is unclear but it has been suggested
                     to be involved in substrate presentation. PI4K
                     phosphorylates hydroxylgroup at position 4 on the...;
                     cd00871"
                     /db_xref="CDD:238443"
     Region          1752..2070
                     /region_name="PI4Kc_III_alpha"
                     /note="Catalytic domain of Type III Phosphoinositide
                     4-kinase alpha; cd05167"
                     /db_xref="CDD:270711"
     Site            order(1764,1766..1767,1769,1771,1817,1819,1822,1853,
                     1865..1868,1873,1876,1931,1933,1943..1944)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270711"
     Region          1783..1789
                     /region_name="G-loop.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00269"
                     /note="propagated from UniProtKB/Swiss-Prot (P42356.4)"
     Region          1923..1931
                     /region_name="Catalytic loop.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00269"
                     /note="propagated from UniProtKB/Swiss-Prot (P42356.4)"
     Site            1923..1931
                     /site_type="active"
                     /note="catalytic loop [active]"
                     /db_xref="CDD:270711"
     Region          1942..1966
                     /region_name="Activation loop.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00269"
                     /note="propagated from UniProtKB/Swiss-Prot (P42356.4)"
     Site            order(1944..1954,1957..1960,1961..1966)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270711"
     CDS             1..2071
                     /gene="PI4KA"
                     /gene_synonym="GIDID2; PI4K-ALPHA; pi4K230; PIK4CA;
                     PMGYCHA; SPG84"
                     /coded_by="NM_001362862.2:87..6302"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:5297"
                     /db_xref="HGNC:HGNC:8983"
                     /db_xref="MIM:600286"
ORIGIN      
        1 maaaparggg ggggggggcs gsgssasrgf yfntvlslar slavqrpasl ekvqkllcmc
       61 pvdfhgifql derrrdavia lgifliesdl qhkdcvvpyl lrllkglpkv ywveestark
      121 grgalpvaes fsfclvtlls dvayrdpslr deilevllqv lhvllgmcqa leiqdkeylc
      181 kyaipcligi srafgrysnm eesllsklfp kipphslrvl eelegvrrrs fndfrsilps
      241 nlltvcqegt lkrktssvss isqvspergm pppsspggsa fhyfeasclp dgtalepeyy
      301 fstisssfsv splfngvtyk efniplemlr ellnlvkkiv eeavlkslda ivasvmeanp
      361 sadlyytsfs dplyltmfkm lrdtlyymkd lptsfvkeih dfvleqfnts qgelqkilhd
      421 adrihnelsp lklrcqanaa cvdlmvwavk deqgaenlci klseklqskt sskviiahlp
      481 llicclqglg rlcerfpvvv hsvtpslrdf lvipspvlvk lykyhsqyht vagndikisv
      541 tnehsestln vmsgkksqps myeqlrdiai dnicrclkag ltvdpvivea flaslsnrly
      601 isqesdkdah lipdhtiral ghiavalrdt pkvmepilqi lqqkfcqpps pldvliidql
      661 gclvitgnqy iyqevwnlfq qisvkassvv ysatkdykdh gyrhcslavi nalaniaani
      721 qdehlvdell mnllelfvql glegkraser asekgpalka sssagnlgvl ipviavltrr
      781 lppikeakpr lqklfrdfwl ysvlmgfave gsglwpeewy egvceiatks plltfpskep
      841 lrsvlqynsa mkndtvtpae lselrstiin lldpppevsa linkldfams tyllsvyrle
      901 ymrvlrstdp drfqvmfcyf edkaiqkdks gmmqcviava dkvfdaflnm madkaktken
      961 eeelerhaqf llvnfnhihk rirrvadkyl sglvdkfphl lwsgtvlktm ldilqtlsls
     1021 lsadihkdqp yydipdapyr itvpdtyear esivkdfaar cgmilqeamk waptvtkshl
     1081 qeylnkhqnw vsglsqhtgl amatesilhf agynkqnttl gvygmirfsg ttgqmsdlnk
     1141 mmvqdlhsal drshpqhytq amfkltamli sskdcdpqll hhlcwgplrm fnehgmetal
     1201 acwewllagk dgvevpfmre magawhmtve qkfglfsaei keadplaase asqpkpcppe
     1261 vtphyiwidf lvqrfeiaky cssdqveifs sllqrsmsln iggakgsmnr hvaaigprfk
     1321 lltlglsllh advvpnatir nvlrekiyst afdyfscppk fptqgekrlr edisimikfw
     1381 tamfsdkkyl tasqlvppdn qdtrsnldit vgsrqqatqg wintyplssg mstiskksgm
     1441 skktnrgsql hkyymkrrtl llsllateie rlitwynpls apeleldqag ensvanwrsk
     1501 yislsekqwk dnvnlawsis pylavqlpar fknteaigne vtrlvrldpg avsdvpeaik
     1561 flvtwhtida dapelshvlc waptdpptgl syfssmypph pltaqygvkv lrsfppdail
     1621 fyipqivqal rydkmgyvre yilwaasksq llahqfiwnm ktniyldeeg hqkdpdigdl
     1681 ldqlveeitg slsgpakdfy qrefdffnki tnvsaiikpy pkgderkkac lsalsevkvq
     1741 pgcylpsnpe aivldidyks gtpmqsaaka pylakfkvkr cgvselekeg lrcrsdsede
     1801 cstqeadgqk iswqaaifkv gddcrqdmla lqiidlfkni fqlvgldlfv fpyrvvatap
     1861 gcgviecipd ctsrdqlgrq tdfgmydyft rqygdestla fqqarynfir smaayslllf
     1921 llqikdrhng nimldkkghi ihidfgfmfe sspggnlgwe pdikltdemv mimggkmeat
     1981 pfkwfmemcv rgylavrpym davvslvtlm ldtglpcfrg qtikllkhrf spnmtereaa
     2041 nfimkviqsc flsnrsrtyd miqyyqndip y
//
LOCUS       NP_001020029            2328 aa            linear   PRI 20-MAR-2023
DEFINITION  spectrin beta chain, erythrocytic isoform a [Homo sapiens].
ACCESSION   NP_001020029
VERSION     NP_001020029.1
DBSOURCE    REFSEQ: accession NM_001024858.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2328)
  AUTHORS   Ge Y, Li J, Han Y, Xie H, Shangguan S, Jiang Q, Chen X and Liu R.
  TITLE     [Analysis of the characteristics of SPTB gene variants among 16
            children with Hereditary spherocytosis]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (3), 269-275 (2023)
   PUBMED   36854399
  REMARK    GeneRIF: [Analysis of the characteristics of SPTB gene variants
            among 16 children with Hereditary spherocytosis].
REFERENCE   2  (residues 1 to 2328)
  AUTHORS   Chen XL, Li JG, Men Q and Li X.
  TITLE     [Genetic Analysis of a Chinese Pedigree with Hereditary
            Spherocytosis Caused by Copy Number Variation Deletion of SPTB
            Gene]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 31 (1), 183-188 (2023)
   PUBMED   36765497
  REMARK    GeneRIF: [Genetic Analysis of a Chinese Pedigree with Hereditary
            Spherocytosis Caused by Copy Number Variation Deletion of SPTB
            Gene].
REFERENCE   3  (residues 1 to 2328)
  AUTHORS   Gallagher PG, Sabatino DE, Romana M, Cline AP, Garrett LJ, Bodine
            DM and Forget BG.
  TITLE     A human beta-spectrin gene promoter directs high level expression
            in erythroid but not muscle or neural cells
  JOURNAL   J Biol Chem 274 (10), 6062-6073 (1999)
   PUBMED   10037687
REFERENCE   4  (residues 1 to 2328)
  AUTHORS   Kanzaki A, Rabodonirina M, Yawata Y, Wilmotte R, Wada H, Ata K,
            Yamada O, Akatsuka J, Iyori H, Horiguchi M et al.
  TITLE     A deletional frameshift mutation of the beta-spectrin gene
            associated with elliptocytosis in spectrin Tokyo (beta 220/216)
  JOURNAL   Blood 80 (8), 2115-2121 (1992)
   PUBMED   1391962
REFERENCE   5  (residues 1 to 2328)
  AUTHORS   Winkelmann JC, Costa FF, Linzie BL and Forget BG.
  TITLE     Beta spectrin in human skeletal muscle. Tissue-specific
            differential processing of 3' beta spectrin pre-mRNA generates a
            beta spectrin isoform with a unique carboxyl terminus
  JOURNAL   J Biol Chem 265 (33), 20449-20454 (1990)
   PUBMED   2243099
REFERENCE   6  (residues 1 to 2328)
  AUTHORS   Winkelmann JC, Chang JG, Tse WT, Scarpa AL, Marchesi VT and Forget
            BG.
  TITLE     Full-length sequence of the cDNA for human erythroid beta-spectrin
  JOURNAL   J Biol Chem 265 (20), 11827-11832 (1990)
   PUBMED   2195026
REFERENCE   7  (residues 1 to 2328)
  AUTHORS   Fukushima Y, Byers MG, Watkins PC, Winkelmann JC, Forget BG and
            Shows TB.
  TITLE     Assignment of the gene for beta-spectrin (SPTB) to chromosome
            14q23----q24.2 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 53 (4), 232-233 (1990)
   PUBMED   2209094
REFERENCE   8  (residues 1 to 2328)
  AUTHORS   Prchal JT, Morley BJ, Yoon SH, Coetzer TL, Palek J, Conboy JG and
            Kan YW.
  TITLE     Isolation and characterization of cDNA clones for human erythrocyte
            beta-spectrin
  JOURNAL   Proc Natl Acad Sci U S A 84 (21), 7468-7472 (1987)
   PUBMED   3478706
REFERENCE   9  (residues 1 to 2328)
  AUTHORS   Goodman,S.R., Shiffer,K.A., Casoria,L.A. and Eyster,M.E.
  TITLE     Identification of the molecular defect in the erythrocyte membrane
            skeleton of some kindreds with hereditary spherocytosis
  JOURNAL   Blood 60 (3), 772-784 (1982)
   PUBMED   7104494
REFERENCE   10 (residues 1 to 2328)
  AUTHORS   Bennett,V. and Stenbuck,P.J.
  TITLE     The membrane attachment protein for spectrin is associated with
            band 3 in human erythrocyte membranes
  JOURNAL   Nature 280 (5722), 468-473 (1979)
   PUBMED   379653
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121774.5, AB209415.1,
            M37884.1, BX248270.1, AK094815.1, CN370674.1 and BC010434.1.
            
            Summary: This locus encodes a member of the spectrin gene family.
            Spectrin proteins, along with ankyrin, play a role in cell membrane
            organization and stability. The protein encoded by this locus
            functions in stability of erythrocyte membranes, and mutations in
            this gene have been associated with spherocytosis type 2,
            hereditary elliptocytosis, and neonatal hemolytic anemia.
            Alternatively spliced transcript variants have been described.
            [provided by RefSeq, Nov 2009].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB209415.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2328
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.3"
     Protein         1..2328
                     /product="spectrin beta chain, erythrocytic isoform a"
                     /note="spectrin beta chain, erythrocyte; spectrin beta
                     chain, erythrocytic; Sp beta; spectrin beta Tandil;
                     membrane cytoskeletal protein; beta-I spectrin;
                     erythrocytic spectrin beta chain"
                     /calculated_mol_wt=267696
     Region          1..30
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          2..275
                     /region_name="Actin-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          25..156
                     /region_name="CH_SPTBN2_rpt1"
                     /note="first calponin homology (CH) domain found in
                     spectrin beta chain, non-erythrocytic 2 (SPTBN2) and
                     similar proteins; cd21317"
                     /db_xref="CDD:409166"
     Site            36
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P15508; propagated from
                     UniProtKB/Swiss-Prot (P11277.5)"
     Site            order(37..38,41,44..45,48..49,52..53,56,110,113..114,117,
                     124,129..137,144..145,147..148,151..152,155..156)
                     /site_type="other"
                     /note="actin binding site [polypeptide binding]"
                     /db_xref="CDD:409166"
     Site            104
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11277.5)"
     Site            165..166
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by P.falciparum
                     SERA6. /evidence=ECO:0000269|PubMed:29459732; propagated
                     from UniProtKB/Swiss-Prot (P11277.5)"
     Site            167..168
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by P.falciparum
                     SERA6. /evidence=ECO:0000269|PubMed:29459732; propagated
                     from UniProtKB/Swiss-Prot (P11277.5)"
     Region          170..281
                     /region_name="CH_SPTB_rpt2"
                     /note="second calponin homology (CH) domain found in
                     spectrin beta chain, erythrocytic (SPTB) and similar
                     proteins; cd21319"
                     /db_xref="CDD:409168"
     Site            order(175,179,229,231..232,235,242,247..255,264..265,
                     267..268,271..272,275)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409168"
     Region          302..412
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Region          303..411
                     /region_name="Spectrin 1. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          422..525
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Region          423..525
                     /region_name="Spectrin 2. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          529..635
                     /region_name="Spectrin 3. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          530..742
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            636..641
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          638..741
                     /region_name="Spectrin 4. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          641..848
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            742..747
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          744..846
                     /region_name="Spectrin 5. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          745..954
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            847..852
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          851..950
                     /region_name="Spectrin 6. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          955..1168
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          956..1058
                     /region_name="Spectrin 7. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Site            1060..1065
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1062..1165
                     /region_name="Spectrin 8. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          1170..1379
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          1170..1257
                     /region_name="Spectrin 9. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Site            1273..1278
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1275..1375
                     /region_name="Spectrin 10. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Site            1297
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P15508; propagated from
                     UniProtKB/Swiss-Prot (P11277.5)"
     Region          1385..1475
                     /region_name="SPEC"
                     /note="Spectrin repeats; smart00150"
                     /db_xref="CDD:197544"
     Region          1389..1465
                     /region_name="Spectrin 11. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          1481..1582
                     /region_name="Spectrin 12. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          1485..1690
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1583..1588
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1585..1688
                     /region_name="Spectrin 13. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          1690..1793
                     /region_name="Spectrin 14. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          1691..1901
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1796..1801
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1797..1899
                     /region_name="Spectrin 15. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          1798..2005
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1902..1907
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1906..2006
                     /region_name="Spectrin 16. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          2013..2075
                     /region_name="Spectrin 17. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P11277.5)"
     Region          2013..>2070
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Site            2043
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P11277.5)"
     Site            2073
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11277.5)"
     Site            2110
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:15065869; propagated from
                     UniProtKB/Swiss-Prot (P11277.5)"
     Site            2114
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15065869; propagated from
                     UniProtKB/Swiss-Prot (P11277.5)"
     Region          2181..2286
                     /region_name="PH_beta_spectrin"
                     /note="Beta-spectrin pleckstrin homology (PH) domain;
                     cd10571"
                     /db_xref="CDD:269975"
     Site            order(2188,2201..2203,2249)
                     /site_type="other"
                     /note="non-cannonical phosphoinositide binding site
                     [chemical binding]"
                     /db_xref="CDD:269975"
     CDS             1..2328
                     /gene="SPTB"
                     /gene_synonym="EL3; HS2; HSPTB1; SPH2"
                     /coded_by="NM_001024858.4:287..7273"
                     /note="isoform a is encoded by transcript variant 3"
                     /db_xref="GeneID:6710"
                     /db_xref="HGNC:HGNC:11274"
                     /db_xref="MIM:182870"
ORIGIN      
        1 mtsatefenv gnqppysrin arwdapddel dndnssarlf ersrikalad erevvqkktf
       61 tkwvnshlar vscritdlyk dlrdgrmlik llevlsgeml pkptkgkmri hclenvdkal
      121 qflkeqrvhl enmgshdivd gnhrlvlgli wtiilrfqiq divvqtqegr etrsakdall
      181 lwcqmktagy phvnvtnfts swkdglafna lihkhrpdli dfdklkdsna rhnlehafnv
      241 aerqlgiipl ldpedvften pdeksiityv vafyhyfskm kvlavegkrv gkvidhaiet
      301 ekmiekysgl asdlltwieq titvlnsrkf ansltgvqqq lqafstyrtv ekppkfqekg
      361 nlevllftiq srmrannqkv ytphdgklvs dinrawesle eaeyrrelal rnelirqekl
      421 eqlarrfdrk aamretwlse nqrlvaqdnf gydlaaveaa kkkheaietd taayeervra
      481 ledlaqelek enyhdqkrit arkdnilrlw sylqellqsr rqrlettlal qklfqdmlhs
      541 idwmdeikah llsaefgkhl levedllqkh klmeadiaiq gdkvkaitaa tlkftegkgy
      601 qpcdpqviqd rishleqcfe elsnmaagrk aqleqskrlw kffwemdeae swikekeqiy
      661 ssldygkdlt svlilqrkhk afedelrgld ahleqifqea hgmvarkqfg hpqiearike
      721 vsaqwdqlkd laafckknlq daenffqfqg daddlkawlq dahrllsged vgqdegatra
      781 lgkkhkdfle eleesrgvme hleqqaqgfp eefrdspdvt hrlqalrely qqvvaqadlr
      841 qqrlqealdl ytvfgetdac elwmgekekw laemempdtl edlevvqhrf dildqemktl
      901 mtqidgvnla anslvesghp rsrevkqyqd hlntrwqafq tlvserreav dsalrvhnyc
      961 vdceetskwi tdktkvvest kdlgrdlagi iaiqrklsgl erdvaaiqar vdaleresqq
     1021 lmdshpeqke digqrqkhle elwqglqqsl qgqedllgev sqlqaflqdl ddfqawlsit
     1081 qkavasedmp eslpeaeqll qqhagikdei dghqdsyqrv kesgekviqg qtdpeylllg
     1141 qrlegldtgw nalgrmwesr shtlaqclgf qefqkdakqa eailsnqeyt lahleppdsl
     1201 eaaeagirkf edflgsmenn rdkvlspvds gnklvaegnl ysdkikekvq liedrhrknn
     1261 ekaqeasvll rdnlelqnfl qncqeltlwi ndklltsqdv sydearnlhn kwlkhqafva
     1321 elashegwle nidaegkqlm dekpqftalv sqklealhrl wdelqattke ktqhlsaars
     1381 sdlrlqthad lnkwisamed qlrsddpgkd ltsvnrmlak lkrvedqvnv rkeelgelfa
     1441 qvpsmgeegg dadlsiekrf ldlleplgrr kkqlessrak lqisrdlede tlwveerlpl
     1501 aqsadygtnl qtvqlfmkkn qtlqneilgh tprvedvlqr gqqlveaaei dcqdleerlg
     1561 hlqsswdrlr eaaagrlqrl rdaneaqqyy ldadeaeawi geqelyvisd eipkdeegai
     1621 vmlkrhlrqq ravedygrni kqlasraqgl lsaghpegeq iirlqgqvdk hyaglkdvae
     1681 erkrklenmy hlfqlkretd dleqwiseke lvasspemgq dfdhvtllrd kfrdfaretg
     1741 aigqervdnv nafierlida ghseaatiae wkdglnemwa dllelidtrm qllaasydlh
     1801 ryfytgaeil glidekhrel pedvgldast aesfhrvhta ferelhllgv qvqqfqdvat
     1861 rlqtayagek aeaiqnkeqe vsaawqalld acagrrtqlv dtadkfrffs mardllswme
     1921 siirqietqe rprdvssvel lmkyhqgina eietrsknfs aclelgesll qrqhqaseei
     1981 reklqqvmsr rkemnekwea rwerlrmlle vcqfsrdasv aeawliaqep ylasgdfght
     2041 vdsveklikr heafekstas waerfaalek pttlelkerq iaerpaeetg pqeeegetag
     2101 eapvshhaat ertspgeeeg twpqnlqqpp ppgqhkdgqk stgderptte plfkvldtpl
     2161 segdepatlp aprdhgqsvq megylgrkhd legpnkkasn rswnnlycvl rnseltfykd
     2221 aknlalgmpy hgeeplalrh aiceiaanyk kkkhvfklrl sngsewlfhg kdeeemlswl
     2281 qgvstaines qsirvkaqsl plpslsgpda slgkkdkekr fsffpkkk
//
LOCUS       XP_047280668             660 aa            linear   PRI 20-MAR-2023
DEFINITION  heterogeneous nuclear ribonucleoprotein R isoform X2 [Homo
            sapiens].
ACCESSION   XP_047280668
VERSION     XP_047280668.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424712.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..660
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..660
                     /product="heterogeneous nuclear ribonucleoprotein R
                     isoform X2"
                     /calculated_mol_wt=73817
     Region          51..134
                     /region_name="NURR_hnRNPR"
                     /note="NURR (N-terminal unit for RNA recognition) domain
                     found in heterogeneous nuclear ribonucleoprotein R
                     (hnRNPR) and similar proteins; cd21067"
                     /db_xref="CDD:410955"
     Region          130..655
                     /region_name="hnRNP-R-Q"
                     /note="heterogeneous nuclear ribonucleoprotein R, Q
                     family; TIGR01648"
                     /db_xref="CDD:273732"
     CDS             1..660
                     /gene="HNRNPR"
                     /gene_synonym="hnRNP-R; HNRPR; NEDDFSB"
                     /coded_by="XM_047424712.1:712..2694"
                     /db_xref="GeneID:10236"
                     /db_xref="HGNC:HGNC:5047"
                     /db_xref="MIM:607201"
ORIGIN      
        1 mdnsetvrga pnwkgdpfsy thnkmanqvn gnavqlkeee epmdtssvth tehyktliea
       61 glpqkvaerl deifqtglva yvdlderaid alrefneega lsvlqqfkes dlshvqnksa
      121 flcgvmktyr qrekqgskvq estkgpdeak ikallertgy tldvttgqrk yggpppdsvy
      181 sgvqpgigte vfvgkiprdl yedelvplfe kagpiwdlrl mmdplsgqnr gyafitfcgk
      241 eaaqeavklc dsyeirpgkh lgvcisvann rlfvgsipkn ktkenileef skvtgltegl
      301 vdvilyhqpd dkkknrgfcf leyedhksaa qarrrlmsgk vkvwgnvvtv ewadpveepd
      361 pevmakvkvl fvrnlattvt eeileksfse fgklervkkl kdyafvhfed rgaavkamde
      421 mngkeiegee ieivlakppd kkrkerqaar qasrstayed yyyhppprmp ppirgrgrgg
      481 grggygyppd yygyedyydd yygydyhdyr ggyedpyygy ddgyavrgrg ggrggrgapp
      541 pprgrgappp rgragysqrg aplgpprgsr ggrggpaqqq rgrgsrgsrg nrggnvggkr
      601 kadgynqpds krrqtnnqqn wgsqpiaqqp lqqggdysgn ygynndnqef yqdtygqqwk
//
LOCUS       XP_005245050            1234 aa            linear   PRI 20-MAR-2023
DEFINITION  neurofascin isoform X28 [Homo sapiens].
ACCESSION   XP_005245050
VERSION     XP_005245050.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005244993.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Mar 12, 2015 this sequence version replaced XP_005245050.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1234
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1234
                     /product="neurofascin isoform X28"
                     /calculated_mol_wt=138496
     Region          112..206
                     /region_name="IgI_hNeurofascin_like"
                     /note="Immunoglobulin (Ig)-like domain of human
                     neurofascin (NF); member of the I-set of Ig superfamily
                     (IgSF) domains; cd05875"
                     /db_xref="CDD:409459"
     Region          112..116
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409459"
     Region          121..125
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409459"
     Region          130..137
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409459"
     Region          143..148
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409459"
     Region          151..153
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409459"
     Region          160..163
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409459"
     Region          168..172
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409459"
     Region          185..193
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409459"
     Region          196..206
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409459"
     Region          215..305
                     /region_name="IgI_2_L1-CAM_like"
                     /note="Second immunoglobulin (Ig)-like domain of the L1
                     cell adhesion molecule (CAM), and similar domains; member
                     of the I-set of Ig superfamily (IgSF) domains; cd05845"
                     /db_xref="CDD:409432"
     Region          215..218
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409432"
     Region          220..224
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409432"
     Region          227..235
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409432"
     Region          242..248
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409432"
     Region          251..254
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409432"
     Region          260..264
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409432"
     Region          266..270
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409432"
     Region          281..289
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409432"
     Region          292..305
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409432"
     Region          323..405
                     /region_name="Ig3_L1-CAM_like"
                     /note="Third immunoglobulin (Ig)-like domain of the L1
                     cell adhesion molecule (CAM), and similar domains;
                     cd05731"
                     /db_xref="CDD:409394"
     Region          335..339
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409394"
     Region          348..352
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409394"
     Region          370..374
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409394"
     Region          384..389
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409394"
     Region          397..400
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409394"
     Region          409..497
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          425..429
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          438..442
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          462..466
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          476..481
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          489..492
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          <521..589
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          532..536
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          555..559
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          569..574
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          582..585
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          599..680
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          610..614
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          625..628
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          646..650
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          660..665
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          673..676
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          684..774
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(684,750,765)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(766..767,769..770)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          785..875
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(865..866,868..869)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          884..983
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(972..973,975..976)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          988..1079
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(988,1055,1070)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(1071..1072,1074..1075)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1126..1210
                     /region_name="Bravo_FIGEY"
                     /note="Bravo-like intracellular region; pfam13882"
                     /db_xref="CDD:433552"
     CDS             1..1234
                     /gene="NFASC"
                     /gene_synonym="NEDCPMD; NF; NRCAML"
                     /coded_by="XM_005244993.3:178..3882"
                     /db_xref="GeneID:23114"
                     /db_xref="HGNC:HGNC:29866"
                     /db_xref="MIM:609145"
ORIGIN      
        1 mnqtmapsge rlidlcaiwd agvylpsaaw nrassgvark rlneaeklsa vqeaqlkrle
       61 vtrprvlgsr eqgqvprmar qppppwvhaa fllcllslgg aieipmdltq pptitkqsak
      121 dhivdprdni lieceakgnp apsfhwtrns rffniakdpr vsmrrrsgtl vidfrsggrp
      181 eeyegeyqcf arnkfgtals nrirlqvsks plwpkenldp vvvqegaplt lqcnpppglp
      241 spvifwmsss mepitqdkrv sqghngdlyf snvmlqdmqt dyscnarfhf thtiqqknpf
      301 tlkvlttrgv aertpsfmyp qgtassqmvl rgmdllleci asgvptpdia wykkggdlps
      361 dkakfenfnk alritnvsee dsgeyfclas nkmgsirhti svrvkaapyw ldepknlila
      421 pgedgrlvcr angnpkptvq wmvngeplqs appnpnreva gdtiifrdtq issravyqcn
      481 tsnehgylla nafvsvldvp prmlsprnql irvilynrtr ldcpffgspi ptlrwfkngq
      541 gsnldggnyh vyengsleik mirkedqgiy tcvatnilgk aenqvrlevk dptriyrmpe
      601 dqvarrgttv qlecrvkhdp slkltvswlk ddeplyignr mkkeddslti fgvaerdqgs
      661 ytcvasteld qdlakayltv lgrpdrprdl eltdlaersv rltwipgdan nspitdyvvq
      721 feedqfqpgv whdhskypgs vnsavlrlsp yvnyqfrvia inevgsshps lpseryrtsg
      781 appesnpgdv kgegtrknnm eitwtpmnat safgpnlryi vkwrrretre awnnvtvwgs
      841 ryvvgqtpvy vpyeirvqae ndfgkgpepe svigysgedy praaptevkv rvmnstaisl
      901 qwnrvysdtv qgqlreyray ywressllkn lwvsqkrqqa sfpgdrlrgv vsrlfpysny
      961 klemvvvngr gdgprsetke fttpegvpsa prrfrvrqpn letinlewdh pehpngimig
     1021 ytlkyvafng tkvgkqiven fspnqtkftv qrtdpvsryr ftlsartqvg sgeavteesp
     1081 appneatpta aytnnqadia tqgwfiglmc aiallvlill ivcfikrsrg gkypvrekkd
     1141 vplgpedpke edgsfdysde dnkplqgsqt sldgtikqqe sddslvdyge ggegqfnedg
     1201 sfigqytvkk dkeetegnes seatspvnai ysla
//
LOCUS       XP_047273051             267 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform
            X2 [Homo sapiens].
ACCESSION   XP_047273051
VERSION     XP_047273051.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417095.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..267
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..267
                     /product="alpha-N-acetylgalactosaminide
                     alpha-2,6-sialyltransferase 3 isoform X2"
                     /calculated_mol_wt=30500
     Region          77..>134
                     /region_name="Glyco_transf_29"
                     /note="Glycosyltransferase family 29 (sialyltransferase);
                     pfam00777"
                     /db_xref="CDD:425864"
     CDS             1..267
                     /gene="ST6GALNAC3"
                     /gene_synonym="PRO7177; SIAT7C; ST6GALNACIII; STY"
                     /coded_by="XM_047417095.1:122..925"
                     /db_xref="GeneID:256435"
                     /db_xref="HGNC:HGNC:19343"
                     /db_xref="MIM:610133"
ORIGIN      
        1 macilkrksv iavsfiaafl fllvvrlvne vnfplllncf gqpgtkwipf sytyrrplrt
       61 hygyinvktq eplqldcdlc aivsnsgqmv gqkvgneidr ssciwrmnna ptkgyeedvg
      121 rmtmirvvsh tsvplllknp dyffkeantt iyviwgpfrn mrkdgngivy nmlkktvgiy
      181 pnaqiyvtte krmsycdgvf kketgkdstm vqlwpwpssa iatpsmsgsv kegimefspq
      241 kfcdychyhc kvktlypayi fiytpyi
//
LOCUS       XP_011539586             212 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptophysin-like protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_011539586
VERSION     XP_011539586.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011541284.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..212
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..212
                     /product="synaptophysin-like protein 2 isoform X2"
                     /calculated_mol_wt=24032
     Region          30..>162
                     /region_name="MARVEL"
                     /note="Membrane-associating domain; pfam01284"
                     /db_xref="CDD:366555"
     CDS             1..212
                     /gene="SYPL2"
                     /gene_synonym="MG29"
                     /coded_by="XM_011541284.3:299..937"
                     /db_xref="GeneID:284612"
                     /db_xref="HGNC:HGNC:27638"
ORIGIN      
        1 msstesagrt adksprqqvd rllvglrwrr leeplgfikv lqwlfaifaf gscgsysget
       61 gamvrcnnea kdvssiivaf gypfrlhriq yemplcdees ssktmhlmgd fsapaeffvt
      121 lgifsffytm aalviylrfh nlytenkrfp lvlfgfinff lwagncwfvf ketpwhgqgq
      181 gqdqdqdqdq gqgpsqesaa eqgavekqih hv
//
LOCUS       XP_047278316             319 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase isozyme L5 isoform X12 [Homo
            sapiens].
ACCESSION   XP_047278316
VERSION     XP_047278316.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422360.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..319
                     /product="ubiquitin carboxyl-terminal hydrolase isozyme L5
                     isoform X12"
                     /calculated_mol_wt=36312
     Region          <43..213
                     /region_name="Peptidase_C12"
                     /note="Cysteine peptidase C12 contains ubiquitin
                     carboxyl-terminal hydrolase (UCH) families L1, L3, L5 and
                     BAP1; cd02255"
                     /db_xref="CDD:187736"
     Site            order(45,51,127,142)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:187736"
     Region          254..299
                     /region_name="UCH_C"
                     /note="Ubiquitin carboxyl-terminal hydrolases; pfam18031"
                     /db_xref="CDD:436222"
     CDS             1..319
                     /gene="UCHL5"
                     /gene_synonym="CGI-70; INO80R; UCH-L5; UCH37"
                     /coded_by="XM_047422360.1:219..1178"
                     /db_xref="GeneID:51377"
                     /db_xref="HGNC:HGNC:19678"
                     /db_xref="MIM:610667"
ORIGIN      
        1 mmisaewsem rtilrslgtv hkttltlntn crvrprppsp ltalqvinna catqaivsvl
       61 lncthqdvhl getlsefkef sqsfdaamkg lalsnsdvir qvhnsfarqq mfefdtktsa
      121 keedafhfvs yvpvngrlye ldglregpid lgacnqddwi savrpviekr iqkdgfspcc
      181 pgwsqtpelk psacldlpkw ysegeirfnl maivsdrkmi yeqkiaelqr qlaeeepmdt
      241 dqgnsmlsai qsevaknqml ieeevqklkr ykienirrkh nylpfimell ktlaehqqli
      301 plvekakekq nakkaqetk
//
LOCUS       XP_047282354            1240 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase C isoform X3 [Homo
            sapiens].
ACCESSION   XP_047282354
VERSION     XP_047282354.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426398.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1240
                     /product="receptor-type tyrosine-protein phosphatase C
                     isoform X3"
                     /calculated_mol_wt=140452
     Region          7..32
                     /region_name="PTP_N"
                     /note="Protein tyrosine phosphatase N terminal; pfam12453"
                     /db_xref="CDD:403599"
     Region          27..>165
                     /region_name="PHA03255"
                     /note="BDLF3; Provisional"
                     /db_xref="CDD:165513"
     Region          171..229
                     /region_name="CD45"
                     /note="Leukocyte receptor CD45; pfam12567"
                     /db_xref="CDD:432641"
     Region          327..396
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          419..499
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(419,480,495)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          641..841
                     /region_name="R-PTPc-C-1"
                     /note="catalytic domain of receptor-type tyrosine-protein
                     phosphatase C, repeat 1; cd14557"
                     /db_xref="CDD:350405"
     Region          951..1157
                     /region_name="R-PTP-C-2"
                     /note="PTP-like domain of receptor-type tyrosine-protein
                     phosphatase C, repeat 2; cd14558"
                     /db_xref="CDD:350406"
     CDS             1..1240
                     /gene="PTPRC"
                     /gene_synonym="B220; CD45; CD45R; GP180; IMD105; L-CA;
                     LCA; LY5; T200"
                     /coded_by="XM_047426398.1:118..3840"
                     /db_xref="GeneID:5788"
                     /db_xref="HGNC:HGNC:9666"
                     /db_xref="MIM:151460"
ORIGIN      
        1 mtmylwlkll afgfafldte vfvtgqsptp sptgvssvqt phlpthadsq tpsagtdtqt
       61 fsgsaanakl nptpgsnais dvpgerstas tfptdpvspl tttlslahhs saalpartsn
      121 ttitantsda ylnasetttl spsgsavist ttiattpskp tcdekyanit vdylynketk
      181 lftaklnvne nvecgnntct nnevhnltec knasvsishn sctapdktli ldvppgvekf
      241 qlhdctqvek adtticlkwk nietftcdtq nityrfqcgn mifdnkeikl enlepeheyk
      301 cdseilynnh kftnaskiik tdfgspgepq iifcrseaah qgvitwnppq rsfhnftlcy
      361 iketekdcln ldknlikydl qnlkpytkyv lslhayiiak vqrngsaamc hfttksapps
      421 qvwnmtvsmt sdnsmhvkcr pprdrngphe ryhleveagn tlvrneshkn cdfrvkdlqy
      481 stdytfkayf hngdypgepf ilhhstsyns kaliaflafl iivtsiallv vlykiydlhk
      541 krscnldeqq elverddekq lmnvepihad illetykrki adegrlflae fqsiprvfsk
      601 fpikearkpf nqnknryvdi lpydynrvel seingdagsn yinasyidgf keprkyiaaq
      661 gprdetvddf wrmiweqkat vivmvtrcee gnrnkcaeyw psmeegtraf gdvvvkinqh
      721 krcpdyiiqk lnivnkkeka tgrevthiqf tswpdhgvpe dphlllklrr rvnafsnffs
      781 gpivvhcsag vgrtgtyigi damlegleae nkvdvygyvv klrrqrclmv qveaqyilih
      841 qalveynqfg etevnlselh pylhnmkkrd ppsepsplea efqrlpsyrs wrtqhignqe
      901 enksknrnsn vipydynrvp lkhelemske sehdsdessd ddsdseepsk yinasfimsy
      961 wkpevmiaaq gplketigdf wqmifqrkvk vivmltelkh gdqeicaqyw gegkqtygdi
     1021 evdlkdtdks stytlrvfel rhskrkdsrt vyqyqytnws veqlpaepke lismiqvvkq
     1081 klpqknsseg nkhhkstpll ihcrdgsqqt gifcallnll esaeteevvd ifqvvkalrk
     1141 arpgmvstfe qyqflydvia stypaqngqv kknnhqedki efdnevdkvk qdancvnplg
     1201 apeklpeake qaegseptsg tegpehsvng paspalnqgs
//
LOCUS       XP_005277478             306 aa            linear   PRI 20-MAR-2023
DEFINITION  SLIT-ROBO Rho GTPase-activating protein 2B isoform X2 [Homo
            sapiens].
ACCESSION   XP_005277478
VERSION     XP_005277478.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005277421.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..306
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..306
                     /product="SLIT-ROBO Rho GTPase-activating protein 2B
                     isoform X2"
                     /calculated_mol_wt=35329
     Region          <1..136
                     /region_name="BAR"
                     /note="The Bin/Amphiphysin/Rvs (BAR) domain, a
                     dimerization module that binds membranes and detects
                     membrane curvature; cl12013"
                     /db_xref="CDD:448379"
     CDS             1..306
                     /gene="SRGAP2B"
                     /gene_synonym="SRGAP2L; SRGAP2P2"
                     /coded_by="XM_005277421.5:804..1724"
                     /db_xref="GeneID:647135"
                     /db_xref="HGNC:HGNC:35237"
                     /db_xref="MIM:614703"
ORIGIN      
        1 mkvlnelysv mktyhmynad sisaqsklke aekqeekqig ksvkqedrqt prspdstanv
       61 rieekhvrrs svkkiekmke krqakytenk lkaikarney llaleatnas vfkyyihdls
      121 dlidqccdlg yhaslnralr tflsaelnle qskhegldai enavenldat sdkqrlmemy
      181 nnvfcppmkf efqphmgdma sqlcaqqpvq sellqrcqql qsrlstlkie neevkktmea
      241 tlqtiqdivt vedfdvsdcf qysnsmesvk stvsetfmsk psiakrranq qeteqfyftv
      301 recygf
//
LOCUS       XP_011508218            2419 aa            linear   PRI 20-MAR-2023
DEFINITION  spectrin alpha chain, erythrocytic 1 isoform X1 [Homo sapiens].
ACCESSION   XP_011508218
VERSION     XP_011508218.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011509916.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2419
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..2419
                     /product="spectrin alpha chain, erythrocytic 1 isoform X1"
                     /calculated_mol_wt=279885
     Site            52..57
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          53..138
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Region          159..370
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            263..268
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          266..476
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            369..374
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          477..687
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            581..586
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          688..897
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            792..797
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          902..>958
                     /region_name="SPEC"
                     /note="Spectrin repeats; smart00150"
                     /db_xref="CDD:197544"
     Region          982..1033
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:450141"
     Site            order(986,988,991,995,1013..1014,1027,1029..1030)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212690"
     Site            1081..1086
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1082..1179
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Region          1186..1395
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1288..1293
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1396..1606
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1499..1504
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1608..1819
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1712..1717
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1715..1926
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1818..1823
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1930..2148
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            2035..2040
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          2047..2260
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            2148..2153
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          2269..>2383
                     /region_name="FRQ1"
                     /note="Ca2+-binding protein, EF-hand superfamily [Signal
                     transduction mechanisms]; COG5126"
                     /db_xref="CDD:227455"
     Region          2350..2418
                     /region_name="EFhand_Ca_insen"
                     /note="Ca2+ insensitive EF hand; pfam08726"
                     /db_xref="CDD:430177"
     CDS             1..2419
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /coded_by="XM_011509916.3:82..7341"
                     /db_xref="GeneID:6708"
                     /db_xref="HGNC:HGNC:11272"
                     /db_xref="MIM:182860"
ORIGIN      
        1 meqfpketvv essgpkvlet aeeiqerrqe vltryqsfke rvaergqkle dsyhlqvfkr
       61 daddlgkwim ekvniltdks yedptniqgk yqkhqsleae vqtksrlmse lektreerft
      121 mghsaheetk ahieelrhlw dllleltlek gdqllralkf qqyvqecadi lewigdkeai
      181 atsvelgedw ertevlhkkf edfqvelvak egrvvevnqy anecaeenhp dlpliqskqn
      241 evnaawerlr glalqrqkal snaanlqrfk rdvteaiqwi kekepvltse dygkdlvase
      301 glfhshkgle rnlavmsdkv kelcakaekl tlshpsdapq iqemkedlvs swehiralat
      361 sryeklqaty wyhrfssdfd elsgwmnekt aainadelpt dvaggevlld rhqqhkheid
      421 syddrfqsad etgqdlvnan heasdevrek meildnnwta llelwderhr qyeqcldfhl
      481 fyrdseqvds wmsrqeafle nedlgnslgs aeallqkhed feeaftaqee kiitvdktat
      541 kligddhyds enikairdgl larrdalrek aatrrrllke slllqklyed sddlknwink
      601 kkkladdedy kdiqnlksrv qkqqvfekel avnktqleni qktgqemieg ghyasdnvtt
      661 rlsevaslwe elleatkqkg tqlheanqql qfennaedlq rwledvewqv tsedygkgla
      721 evqnrlrkhg llesavaarq dqvdiltdla ayfeeighpd skdirarqes lvcrfealke
      781 platrkkkll dllhlqlicr dtedeeawiq etepsatsty lgkdliaskk llnrhrvile
      841 niashepriq eitergnkmv eeghfaaedv asrvkslnqn meslraraar rqndleanvq
      901 fqqyladlhe aetwirekep ivdntnygad eeaagallkk heaflldlns fgdsmkalrn
      961 qanacqqqqa apvegvageq rvmalydfqa rsprevtmkk gdvltllssi nkdwwkveaa
     1021 dhqgivpavy vrrlahdefp mlpqrrreep gnitqrqeqi enqyrslldr aeerrrrllq
     1081 rynefllaye agdmlewiqe kkaentgvel ddvwelqkkf defqkdlntn eprlrdinkv
     1141 addllfegll tpegaqirqe lnsrwgslqr ladeqrqllg sahavevfhr eaddtkeqie
     1201 kkcqalsaad pgsdlfsvqa lqrrhegfer dlvplgdkvt ilgetaerls eshpdatedl
     1261 qrqkmelnea wedlqgrtkd rkeslneaqk fylflskard lqnwissigg mvssqelaed
     1321 ltgieiller hqehradmea eaptfqaled fsaelidsgh haspeiekkl qavklerddl
     1381 ekawekrkki ldqclelqmf qgncdqvesw mvarenslrs ddkssldsle almkkrddld
     1441 kaitaqegki tdlehfaesl iadehyakee iatrlqrvld rwkalkaqli dertklgdya
     1501 nlkqfyrdle eleewiseml ptacdesykd atniqrkylk hqtfahevdg rseqvhgvin
     1561 lgnsliecsa cdgneeamke qleqlkehwd hllertndkg kklneasrqq rfntsirdfe
     1621 fwlseaetll amkdqardla sagnllkkhq lleremlare dalkdlntla edllssgtfn
     1681 vdqivkkkdn vnkrflnvqe laaahheklk eayalfqffq dlddeeswie eklirvssqd
     1741 ygrdlqgvqn llkkhkrleg elvahepaiq nvldmaeklk dkaavgqeei qlrlaqfveh
     1801 weklkelaka rglkleesle ylqfmqnaee eeawinekna lavrgdcgdt laatqsllmk
     1861 healendfav hetrvqnvca qgedilnkvl qeesqnkeis skiealnekt pslakaiaaw
     1921 klqleddyaf qefnwkadvv eawiadkets lktngngadl gdfltllakq dtldaslqsf
     1981 qqerlpeitd lkdklisaqh nqskaieery aallkrweql leasavhrqk llekqlplqk
     2041 aedlfvefah kasalnnwce kmeenlsepv hcvslneirq lqkdhedfla slaraqadfk
     2101 clleldqqik algvpsspyt wltvevlert wkhlsdiiee reqelqkeea rqvknfemcq
     2161 efeqnastfl qwiletrayf ldgsllketg tlesqleank rkqkeiqamk rqltkivdlg
     2221 dnledalild ikystiglaq qwdqlyqlgl rmqhnleqqi qakdikgvse etlkefstiy
     2281 khfdenltgr lthkefrscl rglnyylpmv eedehepkfe kfldavdpgr kgyvsledyt
     2341 aflidkesen ikssdeiena fqalaegksy itkedmkqal tpeqvsfcat hmqqymdprg
     2401 rshlsgydyv gftnsyfgn
//
LOCUS       XP_006711598             313 aa            linear   PRI 20-MAR-2023
DEFINITION  Fc receptor-like protein 2 isoform X11 [Homo sapiens].
ACCESSION   XP_006711598
VERSION     XP_006711598.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006711535.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..313
                     /product="Fc receptor-like protein 2 isoform X11"
                     /calculated_mol_wt=34831
     Region          20..102
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          34..38
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          48..52
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          65..69
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          79..86
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          95..98
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          109..180
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          207..290
                     /region_name="Ig_2"
                     /note="Immunoglobulin domain; pfam13895"
                     /db_xref="CDD:433563"
     Region          222..226
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          236..240
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          258..262
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          272..277
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..313
                     /gene="FCRL2"
                     /gene_synonym="CD307b; FCRH2; IFGP4; IRTA4; SPAP1; SPAP1A;
                     SPAP1B; SPAP1C"
                     /coded_by="XM_006711535.4:60..1001"
                     /db_xref="GeneID:79368"
                     /db_xref="HGNC:HGNC:14875"
                     /db_xref="MIM:606509"
ORIGIN      
        1 mllwsllvif davteqadsl tlvapssvfe gdsivlkcqg eqnwkiqkma yhkdnkelsv
       61 fkkfsdfliq savlsdsgny fcstkgqlfl wdktsnivki kvqelfqrpv ltassfqpie
      121 ggpvslkcet rlspqrldvq lqfcffrenq vlgsgwsssp elqisavwse dtgsywckae
      181 tvthrirkqs lqsqihvqri pisnvsleir apggqvtegq klillcsvag gtgnvtfswy
      241 reatgtsmgk ktqrslsael eipavkesda gkyycradng hvpiqskvvn ipvrsllgpr
      301 lqwgtcwsft vrp
//
LOCUS       XP_011538738             450 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptotagmin-15 isoform X1 [Homo sapiens].
ACCESSION   XP_011538738
VERSION     XP_011538738.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011540436.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..450
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..450
                     /product="synaptotagmin-15 isoform X1"
                     /calculated_mol_wt=48911
     Region          209..329
                     /region_name="C2A_Synaptotagmin-15-17"
                     /note="C2A domain first repeat present in Synaptotagmins
                     15 and 17; cd08390"
                     /db_xref="CDD:176036"
     Region          339..>438
                     /region_name="C2"
                     /note="C2 domain; cl14603"
                     /db_xref="CDD:449331"
     CDS             1..450
                     /gene="SYT15B"
                     /coded_by="XM_011540436.4:589..1941"
                     /db_xref="GeneID:102724488"
                     /db_xref="HGNC:HGNC:51487"
ORIGIN      
        1 mgvvlsphpa psrreplapl apgtrpgwsp avsgssrsal rpstagpgpg pgtgwggtaa
       61 sgrwvpapav hcaapraaag hqqhhgpplc spdgaprrfk rrpgspapaa qtgetslreq
      121 phggppavpf vvpptlqgrd wvplhsgewa dapwdpcpas ellphtssgg lalppsvigd
      181 acmvgainpe lykfpedkse tdfpdgclgr lwfsveyeqe aerllvglik aqhlqapset
      241 csplvklyll pderrflqsk tkrktsnpqf dehfifqvss ktitqrvlkf svyhvdrqrk
      301 hqllgqvlfp lknetlvgdc rrviwrdlea esleppsefg dlqfclsynd ylsrltvvvl
      361 rakglrlqed rgivsvfvkv slmnhnkfvk ckktsavlgs inpvynetfs fkadateldt
      421 aslsltvvqn megdkqattv elflfhltsg
//
LOCUS       XP_047281753             580 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium/calmodulin-dependent protein kinase type II subunit gamma
            isoform X1 [Homo sapiens].
ACCESSION   XP_047281753
VERSION     XP_047281753.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425797.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..580
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..580
                     /product="calcium/calmodulin-dependent protein kinase type
                     II subunit gamma isoform X1"
                     /calculated_mol_wt=64238
     Region          12..295
                     /region_name="STKc_CaMKII"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Calcium/calmodulin-dependent protein kinase Type II;
                     cd14086"
                     /db_xref="CDD:270988"
     Site            order(20..22,33,35,66,82..85,89,91,127..128,130,132..133,
                     135,148..149,152,167..171,173)
                     /site_type="active"
                     /db_xref="CDD:270988"
     Site            order(20..22,33,35,66,82..85,89,132..133,135,148..149)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270988"
     Site            order(89,91,127..128,130,132,152,167..171,173)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270988"
     Site            order(148..158,161..171)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270988"
     Site            order(286,288..295)
                     /site_type="other"
                     /note="CaM binding site [polypeptide binding]"
                     /db_xref="CDD:270988"
     Region          448..575
                     /region_name="CaMKII_AD"
                     /note="Calcium/calmodulin dependent protein kinase II
                     association domain; pfam08332"
                     /db_xref="CDD:285524"
     CDS             1..580
                     /gene="CAMK2G"
                     /gene_synonym="CAMK; CAMK-II; CAMKG; MRD59"
                     /coded_by="XM_047425797.1:95..1837"
                     /db_xref="GeneID:818"
                     /db_xref="HGNC:HGNC:1463"
                     /db_xref="MIM:602123"
ORIGIN      
        1 mattatctrf tddyqlfeel gkcvkktstq eyaakiintk klsardhqkl erearicrll
       61 khpnivrlhd siseegfhyl vfdlvtggel fedivareyy seadashcih qilesvnhih
      121 qhdivhrdlk penlllaskc kgaavkladf glaievqgeq qawfgfagtp gylspevlrk
      181 dpygkpvdiw acgvilyill vgyppfwded qhklyqqika gaydfpspew dtvtpeaknl
      241 inqmltinpa kritadqalk hpwvcqrstv asmmhrqetv eclrkfnarr klkgailttm
      301 lvsrnfsvgr qssapaspaa saaglagqaa ksllnkksdg gvkkrkssss vhlmpqsnnk
      361 nslvspaqep aplqtamepq ttvvhnatdg ikgstescnt ttededlkaa plrtgngssv
      421 pegrssrdrt apsagmqpqp slcssamrkq eiikiteqli eainngdfea ytkicdpglt
      481 sfepealgnl vegmdfhkfy fenllsknsk pihttilnph vhvigedaac iayirltqyi
      541 dgqgrprtsq seetrvwhrr dgkwlnvhyh csgapaaplq
//
LOCUS       XP_016872299             836 aa            linear   PRI 20-MAR-2023
DEFINITION  actin filament-associated protein 1-like 2 isoform X25 [Homo
            sapiens].
ACCESSION   XP_016872299
VERSION     XP_016872299.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017016810.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..836
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..836
                     /product="actin filament-associated protein 1-like 2
                     isoform X25"
                     /calculated_mol_wt=93157
     Region          183..289
                     /region_name="PH1_AFAP"
                     /note="Actin filament associated protein family Pleckstrin
                     homology (PH) domain, repeat 1; cd13306"
                     /db_xref="CDD:270116"
     Region          371..471
                     /region_name="PH2_AFAP"
                     /note="Actin filament associated protein family Pleckstrin
                     homology (PH) domain, repeat 2; cd13307"
                     /db_xref="CDD:270117"
     Region          <700..>766
                     /region_name="PRK03918"
                     /note="DNA double-strand break repair ATPase Rad50"
                     /db_xref="CDD:235175"
     CDS             1..836
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /coded_by="XM_017016810.2:48..2558"
                     /db_xref="GeneID:84632"
                     /db_xref="HGNC:HGNC:25901"
                     /db_xref="MIM:612420"
ORIGIN      
        1 merykaqgcc clvvqrrirq vsasleqllt elddflkild qenlsstalv kksclaellr
       61 lytkssssde eyiymnkvti nkqqnaesqg kapeeqgllp ngepsqhssa pqkslpdlpp
      121 pkmiperkql aipktespeg yyeeaepydt slnedgeavs ssyesydeed gskgksapyq
      181 wpspeagiel mrdaricafl wrkkwlgqwa kqlcvikdnr llcyksskdh spqldvnllg
      241 ssvihkekqv rkkehklkit pmnadvivlg lqskdqaeqw lrviqevsgl psegasegnq
      301 ytpdaqrfnc qkpdiaekyl saseygssvd ghpevpetkd vkkkcsaglk lsnlmnlgrk
      361 kstslepver sletssylnv lvnsqwksrw csvrdnhlhf yqdrnrskva qqplslvgce
      421 vvpdpspdhl ysfrilhkge elakleakss eemghwlgll lsesgsktdp eeftydyvda
      481 drvscivsaa knslllmqrk fsepntyidg lpsqdrqeel yddvdlselt aavepteeat
      541 pvaddpnere sdrvyldltp vksflhgpss aqaqassptl scldnateal padsgpgptp
      601 depcikcpen lgeqqlesle pedpslritt vkiqteqqri sfppscpdav vatppgaspp
      661 vkdrlrvtsa eiklgknrte aevkryteek erlekkkeei rghlaqlrke krelketllk
      721 ctdkevlasl eqklkeidee crgeesrrvd lelsimevkd nlkkaeagpv tlgttvdtth
      781 lenvsprpka vtpasapdct pvnsattlkn rplsvvvtgk gtvlqkakew ekkgas
//
LOCUS       XP_006718416             784 aa            linear   PRI 20-MAR-2023
DEFINITION  liprin-beta-2 isoform X11 [Homo sapiens].
ACCESSION   XP_006718416
VERSION     XP_006718416.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006718353.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..784
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..784
                     /product="liprin-beta-2 isoform X11"
                     /calculated_mol_wt=88631
     Region          <26..>212
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          423..486
                     /region_name="SAM_liprin-beta1,2_repeat1"
                     /note="SAM domain of liprin-beta1,2 proteins repeat 1;
                     cd09563"
                     /db_xref="CDD:188962"
     Region          497..559
                     /region_name="SAM_liprin-beta1,2_repeat2"
                     /note="SAM domain of liprin-beta1,2 proteins repeat 2;
                     cd09566"
                     /db_xref="CDD:188965"
     Region          582..653
                     /region_name="SAM_liprin-beta1,2_repeat3"
                     /note="SAM domain of liprin-beta proteins repeat 3;
                     cd09569"
                     /db_xref="CDD:188968"
     CDS             1..784
                     /gene="PPFIBP2"
                     /gene_synonym="Cclp1"
                     /coded_by="XM_006718353.3:226..2580"
                     /db_xref="GeneID:8495"
                     /db_xref="HGNC:HGNC:9250"
                     /db_xref="MIM:603142"
ORIGIN      
        1 mgklitrmwk llrrrsapke llsrtsletq kldlmtevse lklklvgmek eqreqeekqr
       61 kaeellqelr hlkikveele nernqyewkl katkaevaql qeqvalkdae ierlhsqlsr
      121 taalhsesht erdqeiqrlk mgmetlllan edkdrrieel tgllnqyrkv keivmvtqgp
      181 sertlsinee epeggfskwn atnkdpeelf kqempprcss ptvgppplpq ksletraqkk
      241 lscsledlrs esvdkcmdgn qpfpvlepkd spflaehkyp tlpgklsgat pngeaakspp
      301 ticqpdatgs sllrlnrgrs vsapvlgdte sgwddtavvn dlsstssgte sgpqspltpd
      361 gkrnpkgikk fwgkirrtqs gnfytdtlgm aefrrgglra tagprlsrtr dskgqksdan
      421 apfaqwster vcawledfgl aqyvifarqw vssghtllta tpqdmekelg ikhplhrkkl
      481 vlavkaintk qeeksalldh iwvtrwlddi glpqykdqfh esrvdrrmlq yltvndllfl
      541 kvtsqlhhls ikcaihvlhv nkfnphclhr rpadesnlsp sevvqwsnhr vmewlrsvdl
      601 aeyapnlrgs gvhggliile prftgdtlam llnippqktl lrrhlttkfn aligpeaeqe
      661 krekmaspay tpltttakvr prklgfshfg nirkkkfdes tdyicpmeps dgvsdshrvy
      721 sgyrglspld apeldgldqm apsegtvtqi gllsqdihrl ttmlsqdqll ndsrlpapns
      781 ddwr
//
LOCUS       XP_047283756             418 aa            linear   PRI 20-MAR-2023
DEFINITION  serpin H1 isoform X1 [Homo sapiens].
ACCESSION   XP_047283756
VERSION     XP_047283756.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427800.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..418
                     /product="serpin H1 isoform X1"
                     /calculated_mol_wt=46310
     Region          36..417
                     /region_name="serpinH1_CBP1"
                     /note="serpin family H member 1, collagen-binding protein
                     1; cd02046"
                     /db_xref="CDD:381003"
     Site            order(215,218,220,222,225,228,238,303,305,368,371,379,381,
                     383,385..386)
                     /site_type="other"
                     /note="collagen binding site [polypeptide binding]"
                     /db_xref="CDD:381003"
     Site            363..387
                     /site_type="other"
                     /note="reactive center loop (RCL)"
                     /db_xref="CDD:381003"
     CDS             1..418
                     /gene="SERPINH1"
                     /gene_synonym="AsTP3; CBP1; CBP2; gp46; HSP47; OI10;
                     PIG14; PPROM; RA-A47; SERPINH2"
                     /coded_by="XM_047427800.1:623..1879"
                     /db_xref="GeneID:871"
                     /db_xref="HGNC:HGNC:1546"
                     /db_xref="MIM:600943"
ORIGIN      
        1 mrsllllsaf clleaalaae vkkpaaaaap gtaeklspka atlaersagl afslyqamak
       61 dqavenilvs pvvvasslgl vslggkatta sqakavlsae qlrdeevhag lgellrslsn
      121 starnvtwkl gsrlygpssv sfaddfvrss kqhyncehsk infrdkrsal qsinewaaqt
      181 tdgklpevtk dvertdgall vnamffkphw dekfhhkmvd nrgfmvtrsy tvgvmmmhrt
      241 glynyyddek eklqivempl ahklssliil mphhvepler leklltkeql kiwmgkmqkk
      301 avaislpkgv vevthdlqkh laglglteai dknkadlsrm sgkkdlylas vfhatafeld
      361 tdgnpfdqdi ygreelrspk lfyadhpfif lvrdtqsgsl lfigrlvrpk gdkmrdel
//
LOCUS       XP_011536480             520 aa            linear   PRI 20-MAR-2023
DEFINITION  anti-Muellerian hormone type-2 receptor isoform X4 [Homo sapiens].
ACCESSION   XP_011536480
VERSION     XP_011536480.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011538178.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..520
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..520
                     /product="anti-Muellerian hormone type-2 receptor isoform
                     X4"
                     /calculated_mol_wt=56691
     Region          <61..119
                     /region_name="LU"
                     /note="Ly-6 antigen / uPA receptor -like domain; occurs
                     singly in GPI-linked cell-surface glycoproteins (Ly-6
                     family,CD59, thymocyte B cell antigen, Sgp-2) or as
                     three-fold repeated domain in urokinase-type plasminogen
                     activator receptor. Topology of these...; cl10471"
                     /db_xref="CDD:447906"
     Region          175..455
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..520
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /coded_by="XM_011538178.2:81..1643"
                     /db_xref="GeneID:269"
                     /db_xref="HGNC:HGNC:465"
                     /db_xref="MIM:600956"
ORIGIN      
        1 mlgslglwal lptaveappn rrtcvffeap gvrgstktlg elldtgtelp rairclysrc
       61 cfgiwnltqd raqvemqgcr dsdepgcesl hcdpsprahp spgstlftcs cgtdfcnany
      121 shlpppgspg tpgsqgpqaa pgesiwmalv llglflllll llgsiilall qrknyrvrgl
      181 qhdhivrfit asrggpgrll sgpllvlelh pkdcvclcpr graphnslcp igslchyltq
      241 ytsdwgsslr malslaqgla flheerwqng qykpgiahrd lssqnvlire dgscaigdlg
      301 lalvlpgltq ppawtptqpq gpaaimeagt qrymapelld ktldlqdwgm alrradiysl
      361 alllweilsr cpdlrpdssp ppfqlayeae lgntptsdel walavqerrr pyipstwrcf
      421 atdpdglrel ledcwdadpe arltaecvqq rlaalahpqe shpfpescpr gcpplcpedc
      481 tsipaptilp crpqrsachf svqqgpcsrn pqpactlspv
//
LOCUS       XP_016874984            1271 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 5 isoform X1
            [Homo sapiens].
ACCESSION   XP_016874984
VERSION     XP_016874984.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019495.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1271
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1271
                     /product="pleckstrin homology domain-containing family A
                     member 5 isoform X1"
                     /calculated_mol_wt=145486
     Region          12..41
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Region          58..87
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Site            order(73,84)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          164..267
                     /region_name="PH_PEPP1_2_3"
                     /note="Phosphoinositol 3-phosphate binding proteins 1, 2,
                     and 3 pleckstrin homology (PH) domain; cd13248"
                     /db_xref="CDD:270068"
     Site            order(178,180..181,188,190,201,244)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:270068"
     Region          <610..>875
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1271
                     /gene="PLEKHA5"
                     /gene_synonym="PEPP-2; PEPP2"
                     /coded_by="XM_017019495.2:68..3883"
                     /db_xref="GeneID:54477"
                     /db_xref="HGNC:HGNC:30036"
                     /db_xref="MIM:607770"
ORIGIN      
        1 maadlnlewi slprswtygi trggrvffin eeaksttwlh pvtgeavvtg hrrqstdlpt
       61 gweeaytfeg aryyinhner kvtckhpvtg qpsqdncifv vneqtvatmt seekkerpis
      121 mineasnynv tsdyavhpms pvgrtsrask kvhnfgkrsn sikrnpnapv vrrgwlykqd
      181 stgmklwkkr wfvlsdlclf yyrdekeegi lgsillpsfq ialltsedhi nrkyafkaah
      241 pnmrtyyfct dtgkemelwm kamldaalvq tepvkrvdki tsenaptket nnipnhrvli
      301 kpeiqnnqkn kemskieekk aleaekygfq kdgqdrpltk insvklnslp seyesgsacp
      361 aqtvhyrpin lsssenkivn vsladlrggn rpntgplyte adrviqrtns mqqleqwiki
      421 qkgrgheeet rgvisyqtlp rnmpshraqi marypegyrt lprnsktrpe sicsvtpsth
      481 dktlgpgaee krrsmrddtm wqlyewqqrq fynkqstlpr hstlsspktm vnisdqtmhs
      541 iptspshgsi aayqgyspqr tyrsevsspi qrgdvtidrr hrahhpkhvy vpdrrsvpag
      601 ltlqsvspqs lqgktpeelt llliklrrqq aelssireht laqlmqlkle ahspkneils
      661 hhlqrntiyl dhqmkenepi itmvhtmien salrpqlyqq flrqkskisl yclsqdegrg
      721 tlykyrpeev didaklsrlc eqdkvvhale eklqqlhkek ytleqallsa sqeiemhadn
      781 paaiqtvvlq rddlqnglls tcrelsrata elerawreyd kleydvtvtr nqmqeqldhl
      841 gevqtesagi qraqiqkelw riqdvmegls khkqqrgmig skpfstvkyk neeeevvppr
      901 pplprsydft eqppiipplp sdsssllcys rgpvhlpeek kmyqvqgypr ngshcgpdyr
      961 lyksepeltt vaevdesnge eksepvseie tsvvkgshfp vgvvppraks ptpesstias
     1021 yvtlrktkkm mdlrterprs aveqlclaes trprmtveeq merirrhqqa clrekkkgln
     1081 vigasdqspl qspsnlrdnp frttqtrrrd dkeldtaire ndvkpdhetp ateivqlket
     1141 epqnvdfske lkktenisye mlfepepngv nsvemmdker nkdkmpedvt fspqdetqta
     1201 nhkpeehpee ntknsvdeqe etvisyestp evsrgnqtma vkslspspes saspvpstqp
     1261 qltegshfmc v
//
LOCUS       XP_016875074            2246 aa            linear   PRI 20-MAR-2023
DEFINITION  stabilin-2 isoform X2 [Homo sapiens].
ACCESSION   XP_016875074
VERSION     XP_016875074.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019585.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2246
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..2246
                     /product="stabilin-2 isoform X2"
                     /calculated_mol_wt=243620
     Region          246..275
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          326..361
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          382..505
                     /region_name="Fasciclin"
                     /note="Fasciclin domain; pfam02469"
                     /db_xref="CDD:396845"
     Region          526..654
                     /region_name="Fasciclin"
                     /note="Fasciclin domain; pfam02469"
                     /db_xref="CDD:396845"
     Region          837..865
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          876..908
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          920..951
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          957..993
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          1009..1129
                     /region_name="Fasciclin"
                     /note="Fasciclin domain; pfam02469"
                     /db_xref="CDD:396845"
     Region          1148..1265
                     /region_name="Fasciclin"
                     /note="Fasciclin domain; pfam02469"
                     /db_xref="CDD:396845"
     Region          1437..1469
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          1475..1511
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          1517..1553
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          1559..1595
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          1617..1726
                     /region_name="Fasciclin"
                     /note="Fasciclin domain; pfam02469"
                     /db_xref="CDD:396845"
     Region          1752..1882
                     /region_name="Fasciclin"
                     /note="Fasciclin domain; pfam02469"
                     /db_xref="CDD:396845"
     Region          2086..2121
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          2127..2164
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          2198..>2238
                     /region_name="Link_Domain"
                     /note="The link domain is a hyaluronan (HA)-binding
                     domain. It functions to mediate adhesive interactions
                     during inflammatory leukocyte homing and tumor metastasis.
                     It is found in the CD44 receptor and in human TSG-6. TSG-6
                     is the protein product of the tumor...; cl02612"
                     /db_xref="CDD:445853"
     Site            2208..2209
                     /site_type="other"
                     /note="putative hyaluronan binding site [chemical
                     binding]"
                     /db_xref="CDD:238534"
     CDS             1..2246
                     /gene="STAB2"
                     /gene_synonym="FEEL2; FELE-2; FELL2; FEX2; HARE; SCARH1"
                     /coded_by="XM_017019585.2:205..6945"
                     /db_xref="GeneID:55576"
                     /db_xref="HGNC:HGNC:18629"
                     /db_xref="MIM:608561"
ORIGIN      
        1 mmlqhlvifc lglvvqnfcs paettgqarr cdrkslltir tecrscalnl gvkcpdgytm
       61 itsgsvgvrd crytfevrty slslpgcrhi crkdylqprc cpgrwgpdci ecpggagspc
      121 ngrgscaegm egngtcscqe gfggtacetc addnlfgpsc ssvcncvhgv cnsgldgdgt
      181 cecysaytgp kcdkpipeca allcpensrc spstedenkl eckclpnyrg dgkycdpinp
      241 clrkichpha hctylgpnrh sctcqegyrg dgqvclpvdp cqinfgncpt kstvckydgp
      301 gqshceckeh yqnfvpgvgc smtdicksdn pchrnanctt vapgrtecic qkgyvgdglt
      361 cygnimerlr elnteprgkw qgrltsfisl ldkayawpls klgpftvllp tdkglkgfnv
      421 nellvdnkaa qyfvklhiia gqmnieymnn tdmfytltgk sgeifnsdkd nqiklklhgg
      481 kkkvkiiqgd iiasngllhi ldramdklep tfesnneqti mtmlqprysk frslleetnl
      541 ghaldedgvg gpytifvpnn ealnnmkdgt ldyllspegs rkllelvryh ivpftqleva
      601 tlistphirs manqliqfnt tdngqiland vameeieita kngriytltg vlippsivpi
      661 lphrcdetkr emklgtcvsc slvywsrcpa nseptalfth rcvysgrfgs lksgcarycn
      721 atvkipkcck gfygpdcnqc pggfsnpcsg ngqcadslgg ngtciceegf qgsqcqfcsd
      781 pnkygprcnk kclcvhgtcn nridsdgacl tgtcrdgsag rlcdkqtsac gpyvqfchih
      841 atceysngta scickagyeg dgtlcsemdp ctgltpggcs rnaeciktgt gthtcvcqqg
      901 wtgngrdcse inncllpsag gchdnascly vgpgqnecec kkgfrgngid cepitscleq
      961 tgkchplasc qstssgvwsc vcqegyegdg flcygnaave lsflseaaif nrwinnaslq
     1021 ptlsatsnlt vlvpsqqate dmdqdeksfw lsqsnipali kyhmllgtyr vadlqtlsss
     1081 dmlatslqgn flhlakvdgn itiegasivd gdnaatngvi hiinkvlvpq rrltgslpnl
     1141 lmrleqmpdy sifrgyiiqy nlanaieaad aytvfapnnn aienyirekk vlsleedvlr
     1201 yhvvleekll kndlhngmhr etmlgfsyfl sfflhndqly vneapinytn vatdkgvihg
     1261 lgkvleiqkn rcdnndttii rgrcrtcsse ltcpfgtksl gnekrrciyt syfmgrrtlf
     1321 igcqpkcvrt vitreccagf fgpqcqpcpg naqnvcfgng icldgvngtg vcecgegfsg
     1381 tacetctegk ygihcdqacs cvhgrcnqgp lgdgscdcdv gwrgvhcdna ttedncngtc
     1441 htsancltns dgtasckcaa gfqgngtict ainaceisng gcsakadckr ttpgrrvctc
     1501 kagytgdgiv cleinpclen hggcdknaec tqtgpnqaac nclpaytgdg kvctlinvcl
     1561 tknggcsefa icnhtgqver tctckpnyig dgftcrgsiy qelpknpkts qyffqlqehf
     1621 vkdlvgpgpf tvfaplsaaf deearvkdwd kyglmpqvlr yhvvachqll lenlklisna
     1681 tslqgepivi svsqstvyin nkakiissdi istngivhii dkllspknll itpkdnsgri
     1741 lqnlttlatn ngyikfsnli qdsgllsvit dpihtpvtlf wptdqalhal paeqqdflfn
     1801 qdnkdklkey lkfhvirdak vlavdlptst awktlqgsel svkcgagrdi gdlflngqtc
     1861 rivqrellfd lgvaygidcl lidptlggrc dtfttfdasg ecgscvntps cprwskpkgv
     1921 kqkclynlpf krnlegcrer cslviqiprc ckgyfgrdcq acpggpdapc nnrgvcldqy
     1981 satgeckcnt gfngtacemc wpgrfgpdcl pcgcsdhgqc ddgitgsgqc lcetgwtgps
     2041 cdtqavlpav ctppcsahat ckenntcecn ldyegdgitc tvvdfckqdn ggcakvarcs
     2101 qkgtkvscsc qkgykgdghs cteidpcadg lnggchehat ckmtgpgkhk ceckshyvgd
     2161 glncepeqlp idrclqdngq chadakcvdl hfqdttvgvf hlrsplgqyk ltfdkareac
     2221 aneaatmaty nqlsyaqktw ysftke
//
LOCUS       XP_047285089            1571 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF21A isoform X26 [Homo sapiens].
ACCESSION   XP_047285089
VERSION     XP_047285089.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429133.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1571
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1571
                     /product="kinesin-like protein KIF21A isoform X26"
                     /calculated_mol_wt=175304
     Region          8..372
                     /region_name="KISc_KIF4"
                     /note="Kinesin motor domain, KIF4-like subfamily; cd01372"
                     /db_xref="CDD:276823"
     Site            order(17,88,91,93..96,274)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276823"
     Site            order(324,327,330)
                     /site_type="other"
                     /note="microtubule interaction site [polypeptide binding]"
                     /db_xref="CDD:276823"
     Region          <364..791
                     /region_name="Cast"
                     /note="RIM-binding protein of the cytomatrix active zone;
                     pfam10174"
                     /db_xref="CDD:431111"
     Region          <631..968
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          900..981
                     /region_name="Rcc_KIF21A"
                     /note="regulatory coiled-coil domain found in kinesin-like
                     protein KIF21A; cd22263"
                     /db_xref="CDD:410204"
     Site            order(903..904,907..908,910..911,914..915,917..918,
                     921..922,924..925,928..929,931..932,935..936,939,942..943,
                     949..950,952..953,956..957,959..960,963..964,966..967,
                     970..971,973..974,977..978)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:410204"
     Region          1236..1549
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(1243,1259,1263,1269..1270,1282..1283,1301,
                     1310..1311,1324..1325,1364,1374..1375,1388,1408,1413,
                     1419..1420,1438..1439,1455,1459,1465..1466,1479..1480,
                     1497,1502,1508..1509,1521..1522,1538,1542,1548..1549)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          1287..1346
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1352..1387
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1392..1436
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1444..1477
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1484..1520
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..1571
                     /gene="KIF21A"
                     /gene_synonym="CFEOM1; FEOM1; FEOM3A"
                     /coded_by="XM_047429133.1:151..4866"
                     /db_xref="GeneID:55605"
                     /db_xref="HGNC:HGNC:19349"
                     /db_xref="MIM:608283"
ORIGIN      
        1 mlgapdessv rvavrirpql akekiegchi ctsvtpgepq vflgkdkaft fdyvfdidsq
       61 qeqiyiqcie kliegcfegy natvfaygqt gagktytmgt gfdvniveee lgiisravkh
      121 lfksieekkh iaiknglpap dfkvnaqfle lyneevldlf dttrdidaks kksnirihed
      181 stggiytvgv ttrtvntese mmqclklgal srttastqmn vqssrshaif tihvcqtrvc
      241 pqidadnatd nkiisesaqm nefetltakf hfvdlagser lkrtgatger akegisincg
      301 llalgnvisa lgdkskrath vpyrdskltr llqdslggns qtimiacvsp sdrdfmetln
      361 tlkyanrarn iknkvmvnqd rasqqinalr seitrlqmel meyktgkrii deegvesind
      421 mfhenamlqt ennnlrvrik amqetvdalr sritqlvsdq anhvlarage gneeisnmih
      481 syikeiedlr aklleseavn enlrknltra tarapyfsgs stfsptilss dketieiidl
      541 akkdleklkr kekrkkksva gkedntdtdq ekkeekgvse rennelevee sqevsdhede
      601 eeeeeeeedd idggessdes dsesdekany qadlanitce iaikqklide lensqkrlqt
      661 lkkqyeeklm mlqhkirdtq lerdqvlqnl gsvesyseek akkvrseyek klqamnkelq
      721 rlqaaqkeha rllknqsqye kqlkklqqdv memkktkvrl mkqmkeeqek arltesrrnr
      781 eiaqlkkdqr krdvtalrrq vrpmsdkvag kvtrklsssd apaqdtgssa aavetdasrt
      841 gaqqkmripv arvqalptpa tngnrkkyqr kgltgrvfis ktarmkwqll errvtdiimq
      901 kmtisnmead mnrllkqree ltkrreklsk rrekivkeng egdknvanin eemesltani
      961 dyindsisdc qanimqmeea keegetldvt avinactlte arylldhfls mginkglqaa
     1021 qkeaqikvle grlkqteits atqnqllfhm lkekaelnpe ldallghalq envedstded
     1081 aplnspgseg stlssdlmkl cgevkpknka rrrtttqmel lyadsselas dtstgdaslp
     1141 gpltpvaegq eigmntetsg tsarekelsp ppglpskigs isrqsslsek kipepspvtr
     1201 rkayekaeks kakeqkqgii npfpaskgir afplqcihia eghtkavlcv dstddllftg
     1261 skdrtckvwn lvtgqeimsl gghpnnvvsv kycnytslvf tvstsyikvw dirdsakcir
     1321 tltssgqvtl gdacsastsr tvaipsgenq inqialnptg tflyaasgna vrmwdlkrfq
     1381 stgkltghlg pvmcltvdqi ssgqdliitg skdhyikmfd vtegalgtvs pthnfepphy
     1441 dgiealtiqg dnlfsgsrdn gikkwdltqk dllqqvpnah kdwvcalgvv pdhpvllsgc
     1501 rggilkvwnm dtfmpvgemk ghdspinaic vnsthiftaa ddrtvriwka rnlqdgqisd
     1561 tgdlgedias n
//
LOCUS       XP_047285863             144 aa            linear   PRI 20-MAR-2023
DEFINITION  mediator of RNA polymerase II transcription subunit 21 isoform X1
            [Homo sapiens].
ACCESSION   XP_047285863
VERSION     XP_047285863.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429907.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..144
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..144
                     /product="mediator of RNA polymerase II transcription
                     subunit 21 isoform X1"
                     /calculated_mol_wt=15433
     Region          1..127
                     /region_name="Med21"
                     /note="Subunit 21 of Mediator complex; pfam11221"
                     /db_xref="CDD:431738"
     CDS             1..144
                     /gene="MED21"
                     /gene_synonym="hSrb7; SRB7; SURB7"
                     /coded_by="XM_047429907.1:23..457"
                     /db_xref="GeneID:9412"
                     /db_xref="HGNC:HGNC:11473"
                     /db_xref="MIM:603800"
ORIGIN      
        1 madrltqlqd avnsladqfc naigvlqqcg ppasfnniqt ainkdqpanp teeyaqlfaa
       61 liartakdid vlidslpsee staalqaasl ykleeenhea atcledvvyr gdmllekiqs
      121 aladiaqsql ktrsgthsqs lpds
//
LOCUS       XP_011533324             575 aa            linear   PRI 20-MAR-2023
DEFINITION  microtubule-associated tumor suppressor candidate 2 isoform X5
            [Homo sapiens].
ACCESSION   XP_011533324
VERSION     XP_011533324.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011535022.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..575
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..575
                     /product="microtubule-associated tumor suppressor
                     candidate 2 isoform X5"
                     /calculated_mol_wt=64989
     Region          37..>182
                     /region_name="PHA03381"
                     /note="tegument protein VP22; Provisional"
                     /db_xref="CDD:177618"
     Region          <272..>535
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     CDS             1..575
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /coded_by="XM_011535022.2:121..1848"
                     /db_xref="GeneID:23281"
                     /db_xref="HGNC:HGNC:20595"
                     /db_xref="MIM:619358"
ORIGIN      
        1 mlqnpisrnl vsvlpdthvs rqpnwrhlal sgapaspqsp apspgtvhsq sragqppefh
       61 lngtmqyvvs fvwhlslmll rliclvagst fgneeqpvlk aslpskdtpk gagrvappas
      121 ssvtaprrsl lpapkststp agtkkdaqkd qdtnkpavss pkrvaasttk lhspgypkqr
      181 taaarngfpp kpdpqareae rqlvlrlker ceqqtrqlgv aqgelkraic gfdalavatq
      241 hffrknesal vkekelsiel anirdevafh takceklqke keelerrfed evkrlgwqqq
      301 aelqeleerl qlqfeaemar lqeehgdqll sircqhqeqv edltashdaa llemennhtv
      361 aitilqddhd hkvqelmsth elekkeleen feklrlslqd qvdtltfqsq slrdrarrfe
      421 ealrknteeq leialapyqh leedmkslkq vlemknqqih eqekkilele klaekniile
      481 ekiqvlqqqn edlkaridqn tvvtrqlsee nanlqeyvek etqekkrlsr tneellwklq
      541 tgdptspikl sptspvyrgs ssgpssparv sttpr
//
LOCUS       XP_047286272            1412 aa            linear   PRI 20-MAR-2023
DEFINITION  LIM domain only protein 7 isoform X9 [Homo sapiens].
ACCESSION   XP_047286272
VERSION     XP_047286272.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430316.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1412
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..1412
                     /product="LIM domain only protein 7 isoform X9"
                     /calculated_mol_wt=161416
     Region          9..>71
                     /region_name="DUF4757"
                     /note="Domain of unknown function (DUF4757); pfam15949"
                     /db_xref="CDD:435034"
     Region          355..502
                     /region_name="DUF4757"
                     /note="Domain of unknown function (DUF4757); pfam15949"
                     /db_xref="CDD:435034"
     Region          770..837
                     /region_name="PDZ"
                     /note="PDZ domain, also called DHR (Dlg homologous region)
                     or GLGF (after a conserved sequence motif). Many PDZ
                     domains bind C-terminal polypeptides, though binding to
                     internal (non-C-terminal) polypeptides and even to lipids
                     has been demonstrated; cd00136"
                     /db_xref="CDD:238080"
     Site            order(770..772,774,820,823..824)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238080"
     Region          <956..1012
                     /region_name="GBP_C"
                     /note="Guanylate-binding protein, C-terminal domain;
                     cl20817"
                     /db_xref="CDD:450829"
     Region          <959..>1240
                     /region_name="DUF5401"
                     /note="Family of unknown function (DUF5401); pfam17380"
                     /db_xref="CDD:375164"
     Region          999..1010
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:293879"
     Region          1343..1401
                     /region_name="LIM"
                     /note="LIM is a small protein-protein interaction domain,
                     containing two zinc fingers; cd08368"
                     /db_xref="CDD:259829"
     Site            order(1343,1346,1366,1369,1372,1375,1397,1400)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:259829"
     CDS             1..1412
                     /gene="LMO7"
                     /gene_synonym="FBX20; FBXO20; LMO7b; LOMP"
                     /coded_by="XM_047430316.1:631..4869"
                     /db_xref="GeneID:4008"
                     /db_xref="HGNC:HGNC:6646"
                     /db_xref="MIM:604362"
ORIGIN      
        1 mqdynkddms yrrisavepk talpfnrflp nksrqpsyvp aplrkkkpdk hednrrswas
       61 pvyteadgtf ssnqrriwgt nvenwptvqg tsksscylee ekaktrsipn ivkddlyvrk
      121 lspvmpnpgn afdqflpkcw tpedvnwkri kretykpwyk efqgfsqfll lqalqtysdd
      181 ilssethtki dptsgprlit rrknlsyapg yrrddlemaa ldpdlenddf fvrktgafha
      241 npyvlrafed frkfseqdds verdiilqcr egelvlpdle kddmivrrip aqkkevplsg
      301 apdryhpvpf pepwtlppei qakflcvler tcpskeksns crilvpsyrq kkddmltrki
      361 qswklgttvp pisftpgpcs eadlkrweai reasrlrhkk rlmverlfqk iygengsksm
      421 sdvsaedvqn lrqlryeemq kiksqlkeqd qkwqddlakw kdrrksytsd lqkkkeeree
      481 iekqaleksk rssktfkeml qdresqnqks tvpsrrrmys fddvleegkr pptmtvseas
      541 yqserveekg atypseipke dsttfakred rvtteiqlps qspveeqspa slsslrsrst
      601 qmestrvsas lprsyrktdt vrltsvvtpr pfgsqtrgis slprsytmdd awkyngdved
      661 ikrtpnnvvs tpapspdasq lasslssqke vaateedvtr lpsptspfss lsqdqaatsk
      721 atlsstsgld lmsesgegei spqrevsrsq dqfsdmrisi nqtpgksldf gftikwdipg
      781 ifvasveags paefsqlqvd deiiainntk fsyndskewe eamakaqetg hlvmdvrryg
      841 kagspetkwi datsgiynse kssnlsvttd fseslqssni eskeingihd esnafeskas
      901 esislknlkr rsqffeqgss gfsysswvyl cgssdsvvpd lpvptisaps rwvwdqeeer
      961 krqerwqkeq drllqekyqr eqeklreewq rakqeaeren skyldeelmv lssnsmsltt
     1021 repslatwea twsegskssd regtrageee rrqpqeevvh edqgkkpqdq lviererkwe
     1081 qqlqeeqeqk rlqaeaeeqk rpaeeqkrqa eieretsvri yqyrrpvdsy dipkteeass
     1141 gflpgdrnks rsttelddys tnkngnnkyl dqignmtssq rrskkeqvps gaelerqqil
     1201 qemrkrtplh ndnswirqrs asvnkepvsl pgimrrgesl dnldsprsns wrqppwlnqp
     1261 tgfyasssvq dfsrpppqlv stsnraymrn psssvpppsa gsvktsttgv attqsptprs
     1321 hspsasqsgs qlrnrsvsgk ricsycnnil gkgaamiies lglcyhlhcf kcvacecdlg
     1381 gsssgaevri rnhqlycndc ylrfksgrpt am
//
LOCUS       XP_047286498             244 aa            linear   PRI 20-MAR-2023
DEFINITION  gamma-sarcoglycan isoform X1 [Homo sapiens].
ACCESSION   XP_047286498
VERSION     XP_047286498.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430542.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..244
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..244
                     /product="gamma-sarcoglycan isoform X1"
                     /calculated_mol_wt=26267
     Region          20..231
                     /region_name="Sarcoglycan_1"
                     /note="Sarcoglycan complex subunit protein; pfam04790"
                     /db_xref="CDD:428124"
     CDS             1..244
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; LGMDR5; MAM; SCARMD2; SCG3"
                     /coded_by="XM_047430542.1:86..820"
                     /db_xref="GeneID:6445"
                     /db_xref="HGNC:HGNC:10809"
                     /db_xref="MIM:608896"
ORIGIN      
        1 mkgnaaavca pglqevqqag mghlcvtkdg lrlegesefl fplyakeihs rvdsslllqs
       61 tqnvtvnarn segevtgrlk vgpkmvevqn qqfqinsndg kplftvdeke vvvgtdklrv
      121 tgpegalfeh svetplvrad pfqdlrlesp trslsmdapr gvhiqahagk iealsqmdil
      181 fhssdgmlvl daetvclpkl vqgtwgpsgs sqslyeicvc pdgklylsva gvsttcqehn
      241 hicl
//
LOCUS       XP_047287557             467 aa            linear   PRI 20-MAR-2023
DEFINITION  presenilin-1 isoform X1 [Homo sapiens].
ACCESSION   XP_047287557
VERSION     XP_047287557.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431601.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..467
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..467
                     /product="presenilin-1 isoform X1"
                     /calculated_mol_wt=52537
     Region          76..457
                     /region_name="Presenilin"
                     /note="pfam01080"
                     /db_xref="CDD:426034"
     CDS             1..467
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /coded_by="XM_047431601.1:165..1568"
                     /db_xref="GeneID:5663"
                     /db_xref="HGNC:HGNC:9508"
                     /db_xref="MIM:104311"
ORIGIN      
        1 mtelpaplsy fqnaqmsedn hlsntvrsqn dnrerqehnd rrslghpepl sngrpqgnsr
       61 qvveqdeeed eeltlkygak hvimlfvpvt lcmvvvvati ksvsfytrkd gqliytpfte
      121 dtetvgqral hsilnaaimi svivvmtill vvlykyrcyk vihawliiss llllfffsfi
      181 ylgevfktyn vavdyitval liwnfgvvgm isihwkgplr lqqaylimis almalvfiky
      241 lpewtawlil avisvydlva vlcpkgplrm lvetaqerne tlfpaliyss tmvwlvnmae
      301 gdpeaqrrvs knskynaest eresqdtvae nddggfseew eaqrdshlgp hrstpesraa
      361 vqelsssila gedpeergvk lglgdfifys vlvgkasata sgdwnttiac fvailiglcl
      421 tllllaifkk alpalpisit fglvfyfatd ylvqpfmdql afhqfyi
//
LOCUS       XP_047287781            1522 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger homeobox protein 2 isoform X7 [Homo sapiens].
ACCESSION   XP_047287781
VERSION     XP_047287781.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431825.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1522
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1522
                     /product="zinc finger homeobox protein 2 isoform X7"
                     /calculated_mol_wt=161578
     Region          143..165
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          200..218
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(546..550,552,569,575,588,590..591,594..595,597..599,
                     601..602)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          548..601
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     Site            order(548,551,591,594..595,598)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          719..741
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          808..866
                     /region_name="homeodomain"
                     /note="Homeodomain; DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; cd00086"
                     /db_xref="CDD:238039"
     Site            order(808..812,814,831,837,850,852..853,856..857,859..861,
                     863..864)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Site            order(810,813,853,856..857,860)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Site            order(1016..1020,1022,1039,1045,1058,1060..1061,
                     1064..1065,1067..1069,1071..1072)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Site            order(1018,1021,1061,1064..1065,1068)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          1019..1071
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     Region          <1157..1315
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1403..1446
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Site            order(1410..1412,1414..1415,1419,1445,1452,1455..1459,
                     1461..1462)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275371"
     Region          1447..1469
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     CDS             1..1522
                     /gene="ZFHX2"
                     /gene_synonym="MARSIS; ZFH-5; ZFH5; ZNF409"
                     /coded_by="XM_047431825.1:434..5002"
                     /db_xref="GeneID:85446"
                     /db_xref="HGNC:HGNC:20152"
                     /db_xref="MIM:617828"
ORIGIN      
        1 mtfttkvlsa ptlspldngq eppthgpept psrdqaaegp nltpeaspdp lpepplasve
       61 vpdkpsgspg qppspapspv pepdaqaedv appptmaeee egttgelrsa epapadsrhp
      121 ltyrkttnfa ldkfldparp ykctvckesf tqknillvhy nsvshlhkmk kaaidpsapa
      181 rgeagapptt taatdkpfkc tvcrvsynqs stleihmrsv lhqtrsrgtk tdskiegper
      241 sqeepkeget egevgtekkg pdtsgfisgl pflspppppl dlhrfpaplf tppvlppfpl
      301 vpesllklqq qqlllpfylh dlkvgpkltl agpapvlslp aatpppppqp pkaelaerew
      361 erppmakegn eagpssppdp lpneaartaa kallenfgfe lviqynegkq avpppptppp
      421 pealgggdkl acgacgklfs nmlilkthee hvhrrflpfe alsryaaqfr ksydslyppl
      481 aeppkppdgs ldspvphlgp pflvpepeag gtrapeersr agghwpieee essrgnlppl
      541 vpagrrfsrt kftefqtqal qsffetsayp kdgeverlas llglasrvvv vwfqnarqka
      601 rknaceggsm ptgggtggas gcrrchatfs cvfelvrhlk kcyddqtlee eeeeaergee
      661 eeeveeeeve eeqgleppag pegplpeppd geelsqaeat kaggkepeek atpspspaht
      721 cdqcaisfss qdlltshrrl hflpslqpsa ppqlldlpll vfgernplva atspmpgppl
      781 krkhedgsls ptgseagggg egepprdkrl rttilpeqle ilyrwymqds nptrkmldci
      841 seevglkkrv vqvwfqntra rerkgqfrst pggvpspavk ppatatpasl pkfnlllgkv
      901 ddgtgreapk reapafpypt atlasgpqpf lppgkeattp tpepplpllp ppppseeegp
      961 eeppkaspes eacslsagdl sdssasslae pespgaggts ggpgggtgvp dgmgqrryrt
     1021 qmsslqlkim kacyeayrtp tmqecevlge eiglpkrviq vwfqnarake kkaklqgtaa
     1081 gstggssegl laaqrtdcpy cdvkydfyvs crghlfsrqh laklkeavra qlkseskcyd
     1141 lapapeappa lkappattpa smplgaaptl prlapvllsg palaqpplgn lapfnsgpaa
     1201 ssgllglats vlptttvvqt agpgrplpqr pmpdqtntst agttdpvpgp pteplgdkvs
     1261 serkpvagpt sssndalknl kalkttvpal lggqflpfpl ppaggtappa vfgpqlqgay
     1321 fqqlygmkkg lfpmnpmipq tligllpnal lqpppqppep tatappkppe lpapgegeag
     1381 evdelltgst gistvdvthr ylcrqckmaf dgeapatahq rsfcffgrgs ggsmppplrv
     1441 pictyhclac evllsgreal ashlrssahr rkaappqggp pisitnaata asaavafake
     1501 earlphtdsn pkttttstll al
//
LOCUS       XP_011520664             600 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 78 isoform X8 [Homo sapiens].
ACCESSION   XP_011520664
VERSION     XP_011520664.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011522362.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..600
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..600
                     /product="coiled-coil domain-containing protein 78 isoform
                     X8"
                     /calculated_mol_wt=64205
     Region          130..309
                     /region_name="DUF4472"
                     /note="Domain of unknown function (DUF4472); pfam14739"
                     /db_xref="CDD:434172"
     CDS             1..600
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /coded_by="XM_011522362.2:77..1879"
                     /db_xref="GeneID:124093"
                     /db_xref="HGNC:HGNC:14153"
                     /db_xref="MIM:614666"
ORIGIN      
        1 mehaattgpr pgppsrrven vsplglaapa mglksarspk gqegagsctl glisarrgtf
       61 taqpgreagl vtawewghsp awdppgewva vppqvvlrak dwlpgapggt avwatsleae
      121 vppdlalnke qqlqiskelv diqitthhlh eqheaeifql ksevssrvnq pqcmgdggcr
      181 prtralhgha hahgicgsqp aseccaplsv hrvnvhlpqv argqvhllmp vvpqilrles
      241 rvlelelrgd gtsqgcavpv esdprhpraa aqelrhkaqv pghsddhrfq vqpkntmnpe
      301 neqhrlgsgv svqppssger aapetpslgs hpaspvcpta aggsevgaga sggpaagtgd
      361 acvlcscqgq lrqaeaenar lqlqlkklkd eyvlrlqhca wqavehadga gqapattalr
      421 tfleatledi raahrsreqq laraarsyhk rlvdlsrrhe ellvayrapg npqaifdias
      481 ldleplpvpl vtdfshredq hggpgallss pkkrpggasq ggtsepqgld aaswaqihqk
      541 lrdfsrstqs wngsghscws gprwlksnfl syrstwtstw aggqrelgvt pgpwsgwneg
//
LOCUS       XP_005256210             716 aa            linear   PRI 20-MAR-2023
DEFINITION  epithelial splicing regulatory protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_005256210
VERSION     XP_005256210.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005256153.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..716
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..716
                     /product="epithelial splicing regulatory protein 2 isoform
                     X1"
                     /calculated_mol_wt=77146
     Region          <86..214
                     /region_name="DnaQ_like_exo"
                     /note="DnaQ-like (or DEDD) 3'-5' exonuclease domain
                     superfamily; cl10012"
                     /db_xref="CDD:447876"
     Region          247..326
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     Region          331..437
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     Region          463..543
                     /region_name="RRM3_ESRP1_ESRP2"
                     /note="RNA recognition motif 3 (RRM3) found in epithelial
                     splicing regulatory protein ESRP1, ESRP2 and similar
                     proteins; cd12742"
                     /db_xref="CDD:410138"
     Region          <554..665
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          663..>692
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     CDS             1..716
                     /gene="ESRP2"
                     /gene_synonym="RBM35B"
                     /coded_by="XM_005256153.6:83..2233"
                     /db_xref="GeneID:80004"
                     /db_xref="HGNC:HGNC:26152"
                     /db_xref="MIM:612960"
ORIGIN      
        1 mtpppppppp pgpdpaadpa adpcpwpgsl vvlfgataga lgrdlgsdet dlillvwqvv
       61 eprsrqvgtl hkslvraeaa alstqcreas glsadslara epldkvlqqf sqlvngdval
      121 lgggpymlct dgqqllrqvl hpeasrknlv lpdmffsfyd lrrefhmqhp stcpardltv
      181 atmaqglgle tdateddfgv wevktmvavi lhllkepssq lfskpevikq kyetgpckad
      241 vvdsetvvra rglpwqssdq dvarffkgln varggvalcl naqgrrngea lirfvdseqr
      301 dlalqrhkhh mgvryievyk atgeefvkia ggtslevarf lsredqvilr lrglpfsagp
      361 tdvlgflgpe cpvtggtegl lfvrhpdgrp tgdafalfac eelaqaalrr hkgmlgkryi
      421 elfrstaaev qqvlnryasg pllptltapl lpipfplapg tgrdcvrlrg lpytatiedi
      481 lsflgeaaad irphgvhmvl nqqgrpsgda fiqmtsaera laaaqrchkk vmkeryvevv
      541 pcsteemsrv lmggtlgrsg mspppcklpc lspptyttfq atptliptet aalypssall
      601 paarvpaapt pvayypgpat qlylnytayy psppvspttv gylttptaal asaptsvlsq
      661 sgalvrmqgv pytagmkdll svfqayqlpa ddytslmpvg dpprtvlqap kewvcl
//
LOCUS       XP_047290964             313 aa            linear   PRI 20-MAR-2023
DEFINITION  oleosin-B6 isoform X1 [Homo sapiens].
ACCESSION   XP_047290964
VERSION     XP_047290964.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435008.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..313
                     /product="oleosin-B6 isoform X1"
                     /calculated_mol_wt=32627
     CDS             1..313
                     /gene="LOC112268170"
                     /coded_by="XM_047435008.1:507..1448"
                     /db_xref="GeneID:112268170"
ORIGIN      
        1 mvqpaqhhhq psrhphsrav rpasavgrst ptrslslpgs hldaglrtap aaaagfcssr
       61 spggsksare ggrrrvslfs spvcsspplr spplrsaava apapreppap paspreprvt
      121 qatgpgttra pslplltras rrdasflspr plpptvtgip grdgdlgete rvlrgdgtse
      181 tgrtgwrrly eqegkedgar rgeaaeeeqg gvwrewslqk gaaetgagrl kkgalerter
      241 gqerefqgag gagqrspckh rvahaqdegq vqlsfstsll pvlglglpsl saaasthhgl
      301 ravtrvgrda agg
//
LOCUS       XP_011521843             397 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear prelamin A recognition factor isoform X2 [Homo sapiens].
ACCESSION   XP_011521843
VERSION     XP_011521843.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523541.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..397
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..397
                     /product="nuclear prelamin A recognition factor isoform
                     X2"
                     /calculated_mol_wt=44550
     Region          33..322
                     /region_name="Fe_hyd_lg_C"
                     /note="Iron only hydrogenase large subunit, C-terminal
                     domain; pfam02906"
                     /db_xref="CDD:397172"
     Region          339..387
                     /region_name="Fe_hyd_SSU"
                     /note="Iron hydrogenase small subunit; smart00902"
                     /db_xref="CDD:214899"
     CDS             1..397
                     /gene="NARF"
                     /gene_synonym="IOP2"
                     /coded_by="XM_011523541.3:534..1727"
                     /db_xref="GeneID:26502"
                     /db_xref="HGNC:HGNC:29916"
                     /db_xref="MIM:605349"
ORIGIN      
        1 mtaeegvqls qqnakdffrv lnlnkkcdts khkvlvvsvc pqslpyfaak fnlsvtdasr
       61 rlcgflkslg vhyvfdttia adfsilesqk efvrryrqhs eeertlpmlt sacpgwvrya
      121 ervlgrpita hlctakspqq vmgslvkdyf arqqnlspek ifhvivapcy dkklealqes
      181 lppalhgsrg adcvltsgei aqimeqgdls vrdaavdtlf gdlkedkvtr hdgassdghl
      241 ahifrhaake lfnedveevt yralrnkdfq evtlekngev vlrfaaaygf rniqnmilkl
      301 kkgkfpfhfv evlacaggcl ngrgqaqtpd ghadkallrq megiyadipv rrpessahvq
      361 elyqewlegi nspkarevlh ttyqsqergt hsldikw
//
LOCUS       XP_005257424             796 aa            linear   PRI 20-MAR-2023
DEFINITION  microtubule-associated protein tau isoform X5 [Homo sapiens].
ACCESSION   XP_005257424
VERSION     XP_005257424.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005257367.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..796
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..796
                     /product="microtubule-associated protein tau isoform X5"
                     /calculated_mol_wt=82815
     Region          <47..343
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <246..593
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <607..628
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          630..659
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          661..690
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          692..722
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     CDS             1..796
                     /gene="MAPT"
                     /gene_synonym="DDPAC; FTDP-17; MAPTL; MSTD; MTBT1; MTBT2;
                     PPND; PPP1R103; TAU; tau-40; Tau-PHF6"
                     /coded_by="XM_005257367.5:151..2541"
                     /db_xref="GeneID:4137"
                     /db_xref="HGNC:HGNC:6893"
                     /db_xref="MIM:157140"
ORIGIN      
        1 maeprqefev medhagtygl gdrkdqggyt mhqdqegdtd aglkesplqt ptedgseepg
       61 setsdakstp taedvtaplv degapgkqaa aqphteipeg ttaeeagigd tpsledeaag
      121 hvtqeelrvp grqrkaperp laneisahvq pgpcgeasgv sgpclgekep eapvpltasl
      181 pqhrpvcpap pptggpqeps lewgqkggdw aekgpafpkp attaylhtep esgkvvqegf
      241 lrepgppgls hqlmsgmpga pllpegprea trqpsgtgpe dteggrhape llkhqllgdl
      301 hqegpplkga ggkerpgske evdedrdvde sspqdsppsk aspaqdgrpp qtaareatsi
      361 pgfpaegaip lpvdflskvs teipasepdg psvgrakgqd apleftfhve itpnvqkeqa
      421 hseehlgraa fpgapgegpe argpslgedt keadlpepse kqpaaaprgk pvsrvpqlka
      481 rmvskskdgt gsddkkakga dgktkiatpr gaappgqkgq anatripakt ppapktppss
      541 geppksgdrs gysspgspgt pgsrsrtpsl ptpptrepkk vavvrtppks pssaksrlqt
      601 apvpmpdlkn vkskigsten lkhqpgggkv qiinkkldls nvqskcgskd nikhvpgggs
      661 vqivykpvdl skvtskcgsl gnihhkpggg qvevksekld fkdrvqskig sldnithvpg
      721 ggnkkiethk ltfrenakak tdhgaeivyk spvvsgdtsp rhlsnvsstg sidmvdspql
      781 atladevsas lakqgl
//
LOCUS       XP_016880474             342 aa            linear   PRI 20-MAR-2023
DEFINITION  transcriptional adapter 2-alpha isoform X5 [Homo sapiens].
ACCESSION   XP_016880474
VERSION     XP_016880474.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017024985.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..342
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..342
                     /product="transcriptional adapter 2-alpha isoform X5"
                     /calculated_mol_wt=39880
     Region          <3..339
                     /region_name="COG5114"
                     /note="Histone acetyltransferase complex SAGA/ADA, subunit
                     ADA2 [Chromatin structure and dynamics]"
                     /db_xref="CDD:227445"
     CDS             1..342
                     /gene="TADA2A"
                     /gene_synonym="ADA2; ADA2A; hADA2; KL04P; TADA2L"
                     /coded_by="XM_017024985.2:241..1269"
                     /db_xref="GeneID:6871"
                     /db_xref="HGNC:HGNC:11531"
                     /db_xref="MIM:602276"
ORIGIN      
        1 mctktkeece khymkhfinn plfastllnl kqaeeaktad taipfhstdd pprptfdsll
       61 srdmagympa radfieefdn yaewdlrdid fveddsdilh alkmavvdiy hsrlkerqrr
      121 kkiirdhgli nlrkfqlmer rypkevqdly etmrrfariv gpvehdkfie shalefelrr
      181 eikrlqeyrt agitnfcsar tydhlkktre eerlkrtmls evlqyiqdss acqqwlrrqa
      241 didsglspsi pmasnsgrrs applnltglp gteklnekek elcqmvrlvp gayleyksal
      301 lnecnkqggl rlaqaralik idvnktrkiy dfliregyit kg
//
LOCUS       XP_016880659            1292 aa            linear   PRI 20-MAR-2023
DEFINITION  SRC kinase signaling inhibitor 1 isoform X2 [Homo sapiens].
ACCESSION   XP_016880659
VERSION     XP_016880659.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017025170.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1292
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1292
                     /product="SRC kinase signaling inhibitor 1 isoform X2"
                     /calculated_mol_wt=138670
     Region          252..>331
                     /region_name="AIP3"
                     /note="Actin interacting protein 3; pfam03915"
                     /db_xref="CDD:427585"
     Region          <754..908
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     CDS             1..1292
                     /gene="SRCIN1"
                     /gene_synonym="P140; SNIP"
                     /coded_by="XM_017025170.2:117..3995"
                     /db_xref="GeneID:80725"
                     /db_xref="HGNC:HGNC:29506"
                     /db_xref="MIM:610786"
ORIGIN      
        1 mqpwqclrrf alawwertae grarspreea gprdpggrge pdperssppm lsaddaeypr
       61 eyrtlggggg ggsggrrfsn vglvhtserr htviaaqsle alsglqkada drkrdafmdh
      121 lkskypqhal alrgqqdrmr eqvggwtvdp vcllsslcsh lhgdsapsga gqpaqqpnyw
      181 sfktrssrht qgaqpgladq aaklsyasae sletmseael plgfsrmnrf rqslplsrsa
      241 sqtklrspgv lflqfgeetr rvhithevss ldtlhaliah mfpqkltmgm lkspntaili
      301 kdearnvfye ledvrdiqdr siikiyrkep lyaafpgshl tngdlrremv yasressptr
      361 rlnnlspaph lasgspppgl psglpsglqs gspsrsrlsy aggrppsyag spvhhaaerl
      421 ggapaaqgvs pspsailerr dvkpdedlas kaggmvlvkg eglyadpygl lhegrlslaa
      481 aagdpfaypg agglykrgsv rslstysaaa lqsdledsly kaaggggply gdgygfrlpp
      541 sspqkladva appggpppph spysgppsrg spvrqsfrkd sgsssvfaes pggktrsags
      601 astagappse lfpgpgersl vgfgppvpak dtetrermea mekqiasltg lvqsallrgs
      661 epetpsekie gsngaatpsa pcgsggrssg atpvsgpppp sasstpagqp tavsrlqmql
      721 hlrglqnsas dlrgqlqqlr klqlqnqesv rallkrteae lsmrvseaar rqedplqrqr
      781 tlveeerlry lndeelitqq lndleksvek iqrdvshnhr lvpgpeleek alvlkqlget
      841 ltelkahfpg lqskmrvvlr veveavkflk eepqrldgll krcrgvtdtl aqirrqvdeg
      901 vwpppnnlls qspkkvtaet dfnksvdfem pppspplnlh elsgpaegas ltpkggnptk
      961 gldtpgkrsv dkavsveaae rdweekraal tqysakdinr lleetqaell kaipdldcas
     1021 kahpgpaptp dhkppkaphg qkaaprteps grrgsdeltv pryrtekpsk spppppprrs
     1081 fpsshglttt rtgevvvtsk kdsafikkae seelevqkpq vklrravsev arpastppim
     1141 asaikdedde driiaelevf erssvsslpp tprrqliptl lspqdlgppg gsapgptrks
     1201 gggsvppmkv vtpgasrlka aqgqagspdk skhgkqraey mriqaqqqat kpskemsgsn
     1261 etsspvsekp sasrtsipvl tsfgarnssi sf
//
LOCUS       XP_005258939             395 aa            linear   PRI 20-MAR-2023
DEFINITION  intermediate conductance calcium-activated potassium channel
            protein 4 isoform X1 [Homo sapiens].
ACCESSION   XP_005258939
VERSION     XP_005258939.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005258882.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..395
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..395
                     /product="intermediate conductance calcium-activated
                     potassium channel protein 4 isoform X1"
                     /calculated_mol_wt=43898
     Region          12..89
                     /region_name="SK_channel"
                     /note="Calcium-activated SK potassium channel; pfam03530"
                     /db_xref="CDD:427351"
     Region          <205..258
                     /region_name="Ion_trans_2"
                     /note="Ion channel; pfam07885"
                     /db_xref="CDD:429715"
     Region          272..343
                     /region_name="CaMBD"
                     /note="Calmodulin binding domain; pfam02888"
                     /db_xref="CDD:427040"
     CDS             1..395
                     /gene="KCNN4"
                     /gene_synonym="DHS2; hIKCa1; hKCa4; hSK4; IK; IK1; IKCA1;
                     KCa3.1; KCA4; SK4"
                     /coded_by="XM_005258882.3:113..1300"
                     /db_xref="GeneID:3783"
                     /db_xref="HGNC:HGNC:6293"
                     /db_xref="MIM:602754"
ORIGIN      
        1 mggdlvlglg alrrrkrlle qekslagwal vlagtgiglm vlhaemlwfg gcslfmtdng
       61 lrdwrvaltg rqaaqivlel vvcglhpapv rgppcvqdlg apltspqpwp gflgqgeall
      121 slamllrlyl vpravllrsg vllnasyrsi galnqvrfrh wfvaklymnt hpgrlllglt
      181 lglwlttawv lsvaerqavn atghlsdtlw lipitfltig ygdvvpgtmw gkivclctgv
      241 mgvcctallv avvarklefn kaekhvhnfm mdiqytkemk esaarvlqea wmfykhtrrk
      301 eshaarrhqr kllaainafr qvrlkhrklr eqvnsmvdis kmhmilydlq qnlssshral
      361 ekqidtlagk ldaltellst algprqlpep sqqsk
//
LOCUS       XP_047299411            1016 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin and armadillo repeat-containing protein isoform X14 [Homo
            sapiens].
ACCESSION   XP_047299411
VERSION     XP_047299411.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443455.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1016
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1016
                     /product="ankyrin and armadillo repeat-containing protein
                     isoform X14"
                     /calculated_mol_wt=112979
     Region          <97..169
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          104..138
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          141..171
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(142,146..147,150..152,154..155,159,162,171,173,175,
                     179..180,183..185,187..188,192,195,207,209,211,215..216,
                     219..221,223..224,228,231)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          145..240
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          173..207
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          209..234
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          274..298
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          308..340
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          315..>520
                     /region_name="PLN03200"
                     /note="cellulose synthase-interactive protein;
                     Provisional"
                     /db_xref="CDD:215629"
     Site            order(331,335,339,372,376,380,412,416,420)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          347..383
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          387..421
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          429..469
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          576..600
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Site            order(591,595,599,635,639,643,683,687,691)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          608..646
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          657..692
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     CDS             1..1016
                     /gene="ANKAR"
                     /coded_by="XM_047443455.1:161..3211"
                     /db_xref="GeneID:150709"
                     /db_xref="HGNC:HGNC:26350"
                     /db_xref="MIM:609803"
ORIGIN      
        1 mefhgksyyv iyfeletfyq qlyktqwwga ineivnnlrl krlpltdaql heqfkkklgf
       61 kramkcksip fgmksaverg lsavfhtfsr ktssstinvs deagytifhh aalhnrvsii
      121 cqlcnanfkv nqrrfvtfsq gptplhlaaq acslettvcl lcskadytls ekrgwmpihf
      181 aafydnvcii ialcrkdpsl leaeataenq ctplllaats galdtiqylf siganwrktd
      241 ikgnniihls vltfhtevlk yiiklnipel pvwktlveml qcesykrrmm avmslevicl
      301 andqywrcil dagtipalin llksskiklq cktvgllsni sthksavhal veaggipsli
      361 nllvcdepev hsrcavilyd iaqcenkdvi akyngipsli nllnlnienv lvnvmncirv
      421 lcignennqr avrehkglpy lirflssdsg lfnlflnsfe dvlkavssaa iaevgrdnke
      481 iqdaiamega ipplvalfkg kqisvqmkga maveslashn aliqkaflek sltkyllkll
      541 kafqidvkeq gavalwalag qtlkqqkyma eqigysfiin mllspsakmq yvggeavial
      601 skdsrmhqnq icegngiapl vrllristia egtllsvira vgsicigvah tsnpvsqqlv
      661 vdenafpvli qllrnhpspn ikvevafsla civlgndvlq kdlhenegfe yadvlyllhs
      721 tekdiclrag yaltlfafnn rfqqyliles gimtisifer flestvetek amaafqivvl
      781 akvirdmdhi tlsargvtil vdslysvqts tivltgnlia slahsragip eafttlgtiq
      841 rlcyhlysgi eevraacssa lgyltynana frillkecrn kpnqfirikn nisrdasinp
      901 aflkefqmqq tlvglpslsl eknggpsiip ifkrgkehrr klkpkiqpkd sltllppvtn
      961 fmglfkatkk tkdshnifsf sstitsditn vsrprivcln qlgkhvqkan pepaeg
//
LOCUS       XP_047299426             677 aa            linear   PRI 20-MAR-2023
DEFINITION  glycerol-3-phosphate acyltransferase 2, mitochondrial isoform X6
            [Homo sapiens].
ACCESSION   XP_047299426
VERSION     XP_047299426.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443470.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..677
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..677
                     /product="glycerol-3-phosphate acyltransferase 2,
                     mitochondrial isoform X6"
                     /calculated_mol_wt=74022
     Region          176..388
                     /region_name="LPLAT_DHAPAT-like"
                     /note="Lysophospholipid Acyltransferases (LPLATs) of
                     Glycerophospholipid Biosynthesis: GPAT-like; cd07993"
                     /db_xref="CDD:153255"
     Site            order(205,208,210,231..234,291..293)
                     /site_type="active"
                     /note="putative acyl-acceptor binding pocket [active]"
                     /db_xref="CDD:153255"
     CDS             1..677
                     /gene="GPAT2"
                     /gene_synonym="CT123"
                     /coded_by="XM_047443470.1:161..2194"
                     /db_xref="GeneID:150763"
                     /db_xref="HGNC:HGNC:27168"
                     /db_xref="MIM:616431"
ORIGIN      
        1 matmlegrcq tqprsspsgr easlwssgfg mkleavtpfl gkyrpfvgrc cqtctpkswe
       61 slfhrsitdl gfcnvilvke entrfrgwlv rrlcyflwsl eqhippcqdv pqkimestgv
      121 qnllsgrvpg gtgegqvpdl vkkevqrilg hiqapprpfl vrlfswallr flnclflnvq
      181 lhkgqmkmvq kaaqaglplv llsthktlld gillpfmlls qglgvlrvaw dsracspalr
      241 allrklgglf lppeaslsld ssegllarav vqavieqllv sgqpllifle eppgalgprl
      301 salgqawvgf vvqavqvgiv pdallvpvav tydlvpdapc didhasaplg lwtgalavlr
      361 slwsrwgcsh ricsrvhlaq pfslqeyivs arscwggrqt leqllqpivl gqctavpdte
      421 keqewtpitg pllalkeedq llvrrlschv lsasvgssav mstaimatll lfkhqkgvfl
      481 sqllgefswl teeillrgfd vgfsgqlrsl lqhslsllra hvallrirqg dllvvpqpgp
      541 glthlaqlsa ellpvflsea vgacavrgll agrvppqgpw elqgilllsq nelyrqilll
      601 mhllpqdlll lkpcqssycy cqevldrliq cgllvaeesw atqsscsssc rppprkkgss
      661 svrtqsspsv lsgpset
//
LOCUS       XP_047300236            1251 aa            linear   PRI 20-MAR-2023
DEFINITION  AF4/FMR2 family member 3 isoform X8 [Homo sapiens].
ACCESSION   XP_047300236
VERSION     XP_047300236.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444280.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1251
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1251
                     /product="AF4/FMR2 family member 3 isoform X8"
                     /calculated_mol_wt=136249
     Region          45..498
                     /region_name="AF-4"
                     /note="AF-4 proto-oncoprotein; pfam05110"
                     /db_xref="CDD:428310"
     Region          791..804
                     /region_name="AF4_int"
                     /note="AF4 interaction motif; pfam18875"
                     /db_xref="CDD:436798"
     Region          990..1250
                     /region_name="AF-4_C"
                     /note="AF-4 proto-oncoprotein C-terminal region;
                     pfam18876"
                     /db_xref="CDD:436799"
     CDS             1..1251
                     /gene="AFF3"
                     /gene_synonym="KINS; LAF4; MLLT2-like"
                     /coded_by="XM_047444280.1:504..4259"
                     /db_xref="GeneID:3899"
                     /db_xref="HGNC:HGNC:6473"
                     /db_xref="MIM:601464"
ORIGIN      
        1 mdsfdlallq ewdleslwge dilnqrndsl vvefqssasr crsvyepdrn alrrkererr
       61 nqetqqddgt fnssyslfse pyktnkgdel snriqntlgn ydemkdfltd rsnqshlvgv
      121 pkpgvpqtpv nkidehfvad sraqnqpssi cstttstpaa vpvqqskrgt mgwqkaghpp
      181 sdgqqratqq gslrtllgdg vgrqqprakq vcnvevglqt qerppamaak hsssghcvqn
      241 fppslaskps lvqqkptayv rpmdgqdqap despklksss etsvhctsyr gvpaskpepa
      301 rakaklskfs ipkqgeesrs getnscveei iremtwlppl saiqapgkve ptkfpfpnkd
      361 sqlvssghnn pkkgdaepes pdngtsntsm leddlklssd eeeneqqaaq rtalralsds
      421 avvqqpncrt svpsskgsss ssssgsssss sdsesssgsd setesssses egskpphfss
      481 peaepassnk wqldkwlnkv nphkppiliq neshgsesnq yynpvkedvq dcgkvpdvcq
      541 pslrekeiks tckeeqrprt ankapgskgv kqksppaava vavsaaappp avpcapaena
      601 paparrsagk kptrrterts agdganchrp eepaaadalg tsvvvppept ktrpcgnnra
      661 shrkelrssv tcekrrtrgl srivpkskef ietessssss ssdsdleseq eeyplskaqt
      721 vaasassgnd qrlkeaaang gsgprapvgs inarttsdia keleeqfytl vpfgrnells
      781 plkdsdeirs lwvkidltll sripehlpqe pgvlsapatk dsesappsht sdtpaekalp
      841 kskrkrkcdn eddyreikks qgekdsssrl atstsntlsa nhcnmninsv aipinknekm
      901 lrspisplsd askhkytsed ltsssrpngn slftsasssk kpkadsqlqp hggdltkaah
      961 nnseniplhk srpqtkpwsp gsnghrdckr qklvfddmpr sadyfmqeak rmkhkadamv
     1021 ekfgkalnya eaalsfiecg nameqgpmes kspytmyset veliryamrl kthsgpnatp
     1081 edkqlaalcy rclallywrm frlkrdhavk yskalidyfk nsskaaqaps pwgasgkstg
     1141 tpspmspnps passvgsqgs lsnasalsps tivsipqrih qmaanhvsit nsilhsydyw
     1201 emadnlaken reffndldll mgpvtlhssm ehlvqysqqg lhwlrnsahl s
//
LOCUS       XP_047300591             274 aa            linear   PRI 20-MAR-2023
DEFINITION  protein MEMO1 isoform X1 [Homo sapiens].
ACCESSION   XP_047300591
VERSION     XP_047300591.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444635.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..274
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..274
                     /product="protein MEMO1 isoform X1"
                     /calculated_mol_wt=31176
     Region          9..271
                     /region_name="MEMO_like"
                     /note="Memo (mediator of ErbB2-driven cell motility) is
                     co-precipitated with the C terminus of ErbB2, a protein
                     involved in cell motility; cd07361"
                     /db_xref="CDD:153373"
     Site            order(16,58,108,166,169,221)
                     /site_type="active"
                     /note="putative ligand binding pocket/active site
                     [active]"
                     /db_xref="CDD:153373"
     CDS             1..274
                     /gene="MEMO1"
                     /gene_synonym="C2orf4; CGI-27; MEMO; NS5ATP7"
                     /coded_by="XM_047444635.1:85..909"
                     /db_xref="GeneID:51072"
                     /db_xref="HGNC:HGNC:14014"
                     /db_xref="MIM:611786"
ORIGIN      
        1 msnrvvcrea shagswytas gpqlnaqleg wlsqvqstkr paraiiaprr ifilgpshhv
       61 plsrcalssv diyrtplydl ridqkiygel wktgmferms lqtdedehsi emhlpytaka
      121 meshkdefti ipvlvgalse skeqefgklf skyladpsnl fvvssdfchw gqrfrysyyd
      181 esqgeiyrsi ehldkmgmsi ieqldpvsfs nylkkyhnti cgrhpigvll naitelqkng
      241 mnmsfsflny aqssqcrnwq dssvsyaaga ltvh
//
LOCUS       XP_016860836             153 aa            linear   PRI 20-MAR-2023
DEFINITION  ORM1-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_016860836
VERSION     XP_016860836.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017005347.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..153
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..153
                     /product="ORM1-like protein 1 isoform X1"
                     /calculated_mol_wt=17240
     Region          11..146
                     /region_name="ORMDL"
                     /note="ORMDL family; pfam04061"
                     /db_xref="CDD:427683"
     CDS             1..153
                     /gene="ORMDL1"
                     /coded_by="XM_017005347.2:233..694"
                     /db_xref="GeneID:94101"
                     /db_xref="HGNC:HGNC:16036"
                     /db_xref="MIM:610073"
ORIGIN      
        1 mnvgvahsev npntrvmnsr gmwltyalgv gllhivllsi pffsvpvawt ltniihnlgm
       61 yvflhavkgt pfetpdqgka rllthweqld ygvqftssrk fftispiily flasfytkyd
      121 pthfilntas llsvlipkmp qlhgvrifgi nky
//
LOCUS       XP_047296020            1069 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor coactivator 6 isoform X29 [Homo sapiens].
ACCESSION   XP_047296020
VERSION     XP_047296020.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440064.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1069
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..1069
                     /product="nuclear receptor coactivator 6 isoform X29"
                     /calculated_mol_wt=115122
     Region          48..190
                     /region_name="Nucleic_acid_bd"
                     /note="Putative nucleic acid-binding region; pfam13820"
                     /db_xref="CDD:433501"
     Region          <152..544
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          520..>838
                     /region_name="Med15"
                     /note="ARC105 or Med15 subunit of Mediator complex
                     non-fungal; pfam09606"
                     /db_xref="CDD:312941"
     CDS             1..1069
                     /gene="NCOA6"
                     /gene_synonym="AIB3; ASC2; NRC; PRIP; RAP250; TRBP"
                     /coded_by="XM_047440064.1:344..3553"
                     /db_xref="GeneID:23054"
                     /db_xref="HGNC:HGNC:15936"
                     /db_xref="MIM:605299"
ORIGIN      
        1 mvlddlpnle diytslcsst medsemdfds gledddtksd siledstifv afkgniddkd
       61 fkwkldailk nvpnllhmes sklkvqkvep wnsvrvtfni preaaerlri laqsnnqqlr
      121 dlgilsvqie gegainlala qnrsqdvrmn gpmgagnsvr meagfpmasg pgiirmnnpa
      181 tvmippggnv sssmmapgpn pelqprtprp asqsdamdpl lsglhiqqqs hpsgslapph
      241 hpmqpvsvnr qmnpanfpql qqqqqqqqqq qqqqqqqqqq qqqqqlqarp pqqhqqqqpq
      301 girpqftapt qvpvppgwnq lpsgalqppp aqgslgtmta nqgwkkaplp gpmqqqlqar
      361 pslatvqtps hppppypfgs qqasqahtnf pqmsnpgqft apqmkslqgg psrvptplqq
      421 phltnkspas spssfqqgsp assptvnqtq qqmgprppqn nplpqgfqqp vsspgrnpmv
      481 qqgnvppnfm vmqqqppnqg pqslhpglgg mpkrlppgfs agqanpnfmq gqvpsttatt
      541 pgnsgapqlq anqnvqhagg qgagppqnqm qvshgppnmm qpslmgihgn mnnqqagtsg
      601 vpqvnlsnmq gqpqqgppsq lmgmhqqivp sqgqmvqqqg tlnpqnpmil sraqlmpqgq
      661 mmvnppsqnl gpspqrmtpp kqmlsqqgpq mmaphnqmmg pqgqvllqqn pmieqimtnq
      721 mqgnkqqfnt qnqsnvmpgp aqimrgptpn mqgnmvqftg qmsgqmlpqq gpvnnspsqv
      781 mgiqgqvlrp pgpsphmaqq hgdpattann dvslsqmmpd vsiqqtnmvp phvqamqgns
      841 asgnhfsghg msfnapfsga pngnqmscgq npgfpvnkdv tltspllvnl lqsdisaghf
      901 gvnnkqnntn ankpkkkkpp rkkknsqqdl ntpdtrpagl eeadqpplpg eqginldnsg
      961 pklpefsnrp papsqnlvsk etsttalqas varpelevna aivsgqsepk eivekskipg
     1021 rrnsrteept vasesvengh rkrssrpasa ssstkditsa vqskrrksk
//
LOCUS       XP_011527939             440 aa            linear   PRI 20-MAR-2023
DEFINITION  SET domain-containing protein 4 isoform X1 [Homo sapiens].
ACCESSION   XP_011527939
VERSION     XP_011527939.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011529637.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..440
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..440
                     /product="SET domain-containing protein 4 isoform X1"
                     /calculated_mol_wt=50285
     Region          46..287
                     /region_name="SET_SETD4"
                     /note="SET domain found in SET domain-containing protein 4
                     (SETD4) and similar proteins; cd19177"
                     /db_xref="CDD:380954"
     Site            order(59..60,206..207,233..238,272,284,286)
                     /site_type="other"
                     /note="putative SAM binding site"
                     /db_xref="CDD:380954"
     Site            order(59..60,77,204..209,233..237,245,270..273)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:380954"
     Region          308..425
                     /region_name="Rubis-subs-bind"
                     /note="Rubisco LSMT substrate-binding; pfam09273"
                     /db_xref="CDD:430497"
     CDS             1..440
                     /gene="SETD4"
                     /gene_synonym="C21orf18; C21orf27"
                     /coded_by="XM_011529637.3:331..1653"
                     /db_xref="GeneID:54093"
                     /db_xref="HGNC:HGNC:1258"
ORIGIN      
        1 mqkgkgrtsr irrrklcgss esrgvneshk sefielrkwl karkfqdsnl apacfpgtgr
       61 glmsqtslqe gqmiislpes cllttdtvir sylgayitkw kpppspllal ctflvsekha
      121 ghrslwkpyl eilpkaytcp vclepevvnl lpkslkakae eqrahvqeff assrdffssl
      181 qplfaeavds ifsysallwa wctvntravy lrprqrecls aepdtcalap yldllnhsph
      241 vqvkaafnee thsyeirtts rwrkheevfi cygphdnqrl fleygfvsvh nphacvyvsr
      301 eilvkylpst dkqmdkkisi lkdhgyienl tfgwdgpswr lltalkllcl eaekftcwkk
      361 vllgevisdt nektsldiaq kicyyfieet navlqkvshm kdekealinq ltlveslwte
      421 elkilrasae tlhslqtaft
//
LOCUS       XP_047297149             596 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein EWS isoform X34 [Homo sapiens].
ACCESSION   XP_047297149
VERSION     XP_047297149.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441193.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..596
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..596
                     /product="RNA-binding protein EWS isoform X34"
                     /calculated_mol_wt=62567
     Region          <71..206
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          288..371
                     /region_name="RRM_EWS"
                     /note="RNA recognition motif (RRM) found in vertebrate
                     Ewing Sarcoma Protein (EWS); cd12533"
                     /db_xref="CDD:409950"
     Region          445..487
                     /region_name="zf-RanBP"
                     /note="Zn-finger in Ran binding protein and others;
                     pfam00641"
                     /db_xref="CDD:395516"
     Region          449..483
                     /region_name="RanBP2-type Zn finger"
                     /note="RanBP2-type Zn finger [structural motif]"
                     /db_xref="CDD:275375"
     CDS             1..596
                     /gene="EWSR1"
                     /gene_synonym="bK984G1.4; EWS; EWS-FLI1"
                     /coded_by="XM_047441193.1:70..1860"
                     /db_xref="GeneID:2130"
                     /db_xref="HGNC:HGNC:3508"
                     /db_xref="MIM:133450"
ORIGIN      
        1 mastdystys qaaaqqgysa ytaqptqgya qttqaygqqs ygtygqptdv sytqaqttat
       61 ygqtayatsy gqpptgyttp tapqaysqpv qgygtgaydt ttatvtttqa syaaqsaygt
      121 qpaypaygqq paataptrpq dgnkptetsq pqsstggynq pslgygqsny sypqvpgsyp
      181 mqpvtappsy pptsysstqp tsydqssysq qntygqpssy gqqssygqqs sygqqpptsy
      241 ppqtgsysqa psqysqqsss ygqqrpmdeg pdldlgppvd pdedsdnsai yvqglndsvt
      301 lddladffkq cgvvkmnkrt gqpmihiyld ketgkpkgda tvsyedppta kaavewfdgk
      361 dfqgsklkvs larkkppmns mrgglppreg rgmppplrgg pggpggpggp mgrmggrggd
      421 rggfpprgpr gsrgnpsggg nvqhragdwq cpnpsigdfc cdvivcrgcg nqnfawrtec
      481 nqckapkpeg flpppfpppg gdrgrggpgg mrggrgglmd rggpggmfrg grggdrggfr
      541 ggrgmdrggf gggrrggpgg ppgplmeqmg grrggrggpg kmdkgehrqe rrdrpy
//
LOCUS       XP_024309065             258 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleoside diphosphate kinase 6 isoform X1 [Homo sapiens].
ACCESSION   XP_024309065
VERSION     XP_024309065.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453297.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..258
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..258
                     /product="nucleoside diphosphate kinase 6 isoform X1"
                     /calculated_mol_wt=28524
     Region          12..131
                     /region_name="NDPk6"
                     /note="Nucleoside diphosphate kinase 6 (NDP kinase 6,
                     NDPk6, NM23-H6; NME6; Inhibitor of p53-induced
                     apoptosis-alpha, IPIA-alpha): The nm23-H6 gene encoding
                     NDPk6 is expressed mainly in mitochondria, but also found
                     at a lower level in most tissues. NDPk6 has...; cd04414"
                     /db_xref="CDD:239877"
     Site            order(19,60,68,96,102,116,126,129,131)
                     /site_type="active"
                     /db_xref="CDD:239877"
     Site            order(23,29..31,34,37,46..48)
                     /site_type="other"
                     /note="multimer interface [polypeptide binding]"
                     /db_xref="CDD:239877"
     CDS             1..258
                     /gene="NME6"
                     /gene_synonym="IPIA-ALPHA; NDK 6; NM23-H6"
                     /coded_by="XM_024453297.2:23..799"
                     /db_xref="GeneID:10201"
                     /db_xref="HGNC:HGNC:20567"
                     /db_xref="MIM:608294"
ORIGIN      
        1 masilrspqa lqltlalikp davahplile avhqqilsnk flivrmrell wrkedcqrfy
       61 rehegrffyq rlvefmasgp irayilahkd aiqlwrtlmg ptrvfrarhv apdsirgsfg
      121 ltdtrntthg sgfqmktrcg asvssggsck ggaarrkegr khrvlhpclk sfsgvsaalh
      181 ihcsilaqat fisywisslp tclfhshhpp ppsihlsthi kkvlffrrgv vahacnpgtl
      241 ggrggqgrsp evgssrpa
//
LOCUS       XP_006713548             212 aa            linear   PRI 20-MAR-2023
DEFINITION  programmed cell death protein 10 isoform X1 [Homo sapiens].
ACCESSION   XP_006713548
VERSION     XP_006713548.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006713485.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..212
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..212
                     /product="programmed cell death protein 10 isoform X1"
                     /calculated_mol_wt=24571
     Region          14..161
                     /region_name="DUF1241"
                     /note="Protein of unknown function (DUF1241); pfam06840"
                     /db_xref="CDD:429148"
     CDS             1..212
                     /gene="PDCD10"
                     /gene_synonym="CCM3; TFAR15"
                     /coded_by="XM_006713485.5:624..1262"
                     /db_xref="GeneID:11235"
                     /db_xref="HGNC:HGNC:8761"
                     /db_xref="MIM:609118"
ORIGIN      
        1 mrmtmeemkn eaettsmvsm plyavmypvf nelervnlsa aqtlraafik aekenpgltq
       61 diimkilekk svevnftesl lrmaaddvee ymierpepef qdlnekaral kqilskipde
      121 indrvrflqt ikdiasaike lldtvnnvfk kyqyqnrral ehqkkefvky sksfsdtlkt
      181 yfkdgkainv fvsanrlihq tnlilqtfkt va
//
LOCUS       XP_047304249             481 aa            linear   PRI 20-MAR-2023
DEFINITION  inositol hexakisphosphate kinase 2 isoform X3 [Homo sapiens].
ACCESSION   XP_047304249
VERSION     XP_047304249.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448293.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..481
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..481
                     /product="inositol hexakisphosphate kinase 2 isoform X3"
                     /calculated_mol_wt=55186
     Region          258..473
                     /region_name="IPK"
                     /note="Inositol polyphosphate kinase; pfam03770"
                     /db_xref="CDD:397715"
     CDS             1..481
                     /gene="IP6K2"
                     /gene_synonym="IHPK2; InsP6K2; PIUS"
                     /coded_by="XM_047448293.1:969..2414"
                     /db_xref="GeneID:51447"
                     /db_xref="HGNC:HGNC:17313"
                     /db_xref="MIM:606992"
ORIGIN      
        1 mslnlpeasl lsraswpeqa keprreghtd kqqtedvlaa glrclphlpa icarrmspaf
       61 ramdveprak gvllepfvhq vgghscvlrf nettlckplv prehqfyetl paemrkftpq
      121 ykgvvsvrfe ededrnlcli ayplkgdhgi vdivdnsdce pkskllrwtt nkkhhvlete
      181 ktpkdwvrqh rkeekmkshk leeefewlkk sevlyytvek kgnissqlkh ynpwsmkchq
      241 qqlqrmkena khrnqykfil lenltsryev pcvldlkmgt rqhgddasee kaanqirkcq
      301 qstsavigvr vcgmqvyqag sgqlmfmnky hgrklsvqgf kealfqffhn grylrrellg
      361 pvlkkltelk avlerqesyr fysssllviy dgkerpevvl dsdaedledl seesadesag
      421 ayaykpigas svdvrmidfa httcrlyged tvvhegqdag yifglqslid ivteiseesg
      481 e
//
LOCUS       XP_016862800             186 aa            linear   PRI 20-MAR-2023
DEFINITION  ADP-ribosylation factor-like protein 6 isoform X1 [Homo sapiens].
ACCESSION   XP_016862800
VERSION     XP_016862800.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017007311.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..186
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..186
                     /product="ADP-ribosylation factor-like protein 6 isoform
                     X1"
                     /calculated_mol_wt=20966
     Region          19..180
                     /region_name="Arl6"
                     /note="Arf-like 6 (Arl6) GTPase; cd04157"
                     /db_xref="CDD:206722"
     Site            24..31
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206722"
     Site            order(26..32,49..50,72,130..131,133,163..165)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206722"
     Site            order(26..27,31,35,49..56,78,83)
                     /site_type="other"
                     /note="putative GAP interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:206722"
     Site            order(36..40,43..53)
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206722"
     Site            order(50..54,59,69,73,79,81..83)
                     /site_type="other"
                     /note="putative GEF interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:206722"
     Site            50
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206722"
     Site            order(51..58,68,79,82..83)
                     /site_type="active"
                     /note="putative effector interaction site [active]"
                     /db_xref="CDD:206722"
     Site            order(54..60,63..68)
                     /site_type="active"
                     /note="interswitch region [active]"
                     /db_xref="CDD:206722"
     Site            69..86
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206722"
     Site            69..72
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206722"
     Site            130..133
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206722"
     Site            163..165
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206722"
     CDS             1..186
                     /gene="ARL6"
                     /gene_synonym="BBS3; RP55"
                     /coded_by="XM_017007311.3:643..1203"
                     /db_xref="GeneID:84100"
                     /db_xref="HGNC:HGNC:13210"
                     /db_xref="MIM:608845"
ORIGIN      
        1 mglldrlsvl lglkkkevhv lclgldnsgk ttiinklkps naqsqnilpt igfsiekfks
       61 sslsftvfdm sgqgryrnlw ehyykegqai ifvidssdrl rmvvakeeld tllnhpdikh
      121 rripilffan kmdlrdavts vkvsqllcle nikdkpwhic asdaikgegl qegvdwlqdq
      181 iqtvkt
//
LOCUS       XP_011532482            1415 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium-dependent secretion activator 1 isoform X10 [Homo sapiens].
ACCESSION   XP_011532482
VERSION     XP_011532482.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534180.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1415
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1415
                     /product="calcium-dependent secretion activator 1 isoform
                     X10"
                     /calculated_mol_wt=159560
     Region          515..634
                     /region_name="PH_CADPS"
                     /note="Ca2+-dependent activator protein (also called CAPS)
                     Pleckstrin homology (PH) domain; cd01234"
                     /db_xref="CDD:269940"
     Region          893..1362
                     /region_name="DUF1041"
                     /note="Domain of Unknown Function (DUF1041); pfam06292"
                     /db_xref="CDD:428871"
     CDS             1..1415
                     /gene="CADPS"
                     /gene_synonym="CADPS1; CAPS; CAPS1; UNC-31"
                     /coded_by="XM_011534180.3:388..4635"
                     /db_xref="GeneID:8618"
                     /db_xref="HGNC:HGNC:1426"
                     /db_xref="MIM:604667"
ORIGIN      
        1 mldpssseee sdeiveeesg kevlgsapsg arlspsrtse gsagsaglgg ggagagagvg
       61 agggggsgas sgggagglqp ssragggrps spspsvvsek ekeelerlqk eeeerkkrlq
      121 lyvfvmrcia ypfnakqptd marrqqkisk qqlqtvkdrf qaflngetqi madeafmnav
      181 qsyyevflks drvarmvqsg gcsandsrev fkkhiekrvr slpeidglsk etvlsswmak
      241 fdaiyrgeed prkqqarmta saaselilsk eqlyemfqni lgikkfehql lynacqldnp
      301 deqaaqirre ldgrlqmadq iarerkfpkf vskemenmyi eelkssvnll manlesmpvs
      361 kggefklqkl krshnasiid mgeesenqls ksdvvlsfsl evvimevqgl kslapnrivy
      421 ctmeveggek lqtdqaeask ptwgtqgdfs tthalpavkv klftestgvl aledkelgrv
      481 ilhptpnspk qsewhkmtvs kncpdqdlki klavrmdkpq nmkhsgylwa igknvwkrwk
      541 krffvlvqvs qytfamcsyr ekkaepqell qldgytvdyt dpqpgleggr affnavkegd
      601 tvifasddeq drilwvqamy ratgqshkpv pptqvqklna kggnvpqlda pisqfsglkd
      661 adraqkhgmd efissnpcnf dhaslfemvq rltldhrlnd sysclgwfsp gqvfvldeyc
      721 arngvrgchr hlcylrdlle raengamidp tllhysfafc ashvhgnsqq mhvylsglpp
      781 ntdpegsktp sppepeakkd tkkeskkrkd sktqanqelk rpdgigtvtv eekerfeeik
      841 erlrvllenq ithfrycfpf grpegalkat lsllervlmk divtpvpqee vktvirkcle
      901 qaalvnysrl seyakieenq kdaenvgrli tpakkledti rlaelvievl qqneehhaep
      961 hvdkgeafaw wsdlmvehae tflslfavdm daalevqppd twdsfplfql lndflrtdyn
     1021 lcngkfhkhl qdlfaplvvr yvdlmessia qsihrgfere swepvkslts nlpnvnlpnv
     1081 nlpkvpnlpv niplgipqmp tfsapswmaa iydadngsgt sedlfwklda lqtfirdlhw
     1141 peeefgkhle qrlklmasdm iescvkrtri afevklqkts rstdfrvpqs ictmfnvmvd
     1201 akaqstklcs memgqefakm whqyhskide lieetvkemi tllvakfvti legvlaklsr
     1261 ydegtlfssf lsftvkaask yvdvpkpgmd vadayvtfvr hsqdvlrdkv neemyierlf
     1321 dqwynssmnv ictwltdrmd lqlhiyqlkt lirmvkktyr dfrlqgvlds tlnsktyeti
     1381 rnrltveeat asvseggglq gismkdsdee deedd
//
LOCUS       XP_016862855            1371 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium-dependent secretion activator 1 isoform X21 [Homo sapiens].
ACCESSION   XP_016862855
VERSION     XP_016862855.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017007366.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1371
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1371
                     /product="calcium-dependent secretion activator 1 isoform
                     X21"
                     /calculated_mol_wt=154886
     Region          515..634
                     /region_name="PH_CADPS"
                     /note="Ca2+-dependent activator protein (also called CAPS)
                     Pleckstrin homology (PH) domain; cd01234"
                     /db_xref="CDD:269940"
     Region          893..1318
                     /region_name="DUF1041"
                     /note="Domain of Unknown Function (DUF1041); pfam06292"
                     /db_xref="CDD:428871"
     CDS             1..1371
                     /gene="CADPS"
                     /gene_synonym="CADPS1; CAPS; CAPS1; UNC-31"
                     /coded_by="XM_017007366.3:388..4503"
                     /db_xref="GeneID:8618"
                     /db_xref="HGNC:HGNC:1426"
                     /db_xref="MIM:604667"
ORIGIN      
        1 mldpssseee sdeiveeesg kevlgsapsg arlspsrtse gsagsaglgg ggagagagvg
       61 agggggsgas sgggagglqp ssragggrps spspsvvsek ekeelerlqk eeeerkkrlq
      121 lyvfvmrcia ypfnakqptd marrqqkisk qqlqtvkdrf qaflngetqi madeafmnav
      181 qsyyevflks drvarmvqsg gcsandsrev fkkhiekrvr slpeidglsk etvlsswmak
      241 fdaiyrgeed prkqqarmta saaselilsk eqlyemfqni lgikkfehql lynacqldnp
      301 deqaaqirre ldgrlqmadq iarerkfpkf vskemenmyi eelkssvnll manlesmpvs
      361 kggefklqkl krshnasiid mgeesenqls ksdvvlsfsl evvimevqgl kslapnrivy
      421 ctmeveggek lqtdqaeask ptwgtqgdfs tthalpavkv klftestgvl aledkelgrv
      481 ilhptpnspk qsewhkmtvs kncpdqdlki klavrmdkpq nmkhsgylwa igknvwkrwk
      541 krffvlvqvs qytfamcsyr ekkaepqell qldgytvdyt dpqpgleggr affnavkegd
      601 tvifasddeq drilwvqamy ratgqshkpv pptqvqklna kggnvpqlda pisqfsglkd
      661 adraqkhgmd efissnpcnf dhaslfemvq rltldhrlnd sysclgwfsp gqvfvldeyc
      721 arngvrgchr hlcylrdlle raengamidp tllhysfafc ashvhgnsqq mhvylsglpp
      781 ntdpegsktp sppepeakkd tkkeskkrkd sktqanqelk rpdgigtvtv eekerfeeik
      841 erlrvllenq ithfrycfpf grpegalkat lsllervlmk divtpvpqee vktvirkcle
      901 qaalvnysrl seyakiegkk remyehpvfc lasqvmdlti qnvgrlitpa kkledtirla
      961 elvievlqqn eehhaeafaw wsdlmvehae tflslfavdm daalevqppd twdsfplfql
     1021 lndflrtdyn lcngkfhkhl qdlfaplvvr yvdlmessia qsihrgfere swepvnngsg
     1081 tsedlfwkld alqtfirdlh wpeeefgkhl eqrlklmasd miescvkrtr iafevklqkt
     1141 srstdfrvpq sictmfnvmv dakaqstklc smemgqehqy hskideliee tvkemitllv
     1201 akfvtilegv laklsrydeg tlfssflsft vkaaskyvdv pkpgmdvada yvtfvrhsqd
     1261 vlrdkvneem yierlfdqwy nssmnvictw ltdrmdlqlh iyqlktlirm vkktyrdfrl
     1321 qgvldstlns ktyetirnrl tveeatasvs eggglqgism kdsdeedeed d
//
LOCUS       XP_047305243             817 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 5 isoform X1 [Homo sapiens].
ACCESSION   XP_047305243
VERSION     XP_047305243.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449287.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..817
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..817
                     /product="TBC1 domain family member 5 isoform X1"
                     /calculated_mol_wt=91085
     Region          79..381
                     /region_name="TBC"
                     /note="Domain in Tre-2, BUB2p, and Cdc16p. Probable
                     Rab-GAPs; smart00164"
                     /db_xref="CDD:214540"
     CDS             1..817
                     /gene="TBC1D5"
                     /coded_by="XM_047449287.1:578..3031"
                     /db_xref="GeneID:9779"
                     /db_xref="HGNC:HGNC:19166"
                     /db_xref="MIM:615740"
ORIGIN      
        1 myhslsetrh plqpeeqevg idplssysnk sggdsnkngr rtsstldseg tfnsyrkewe
       61 elfvnnnyla tirqkgingq lrssrfrsic wklflcvlpq dksqwisrie elrawysnik
      121 eihitnprkv vgqqdlminn plsqdegslw nkffqdkelr smieqdvkrt fpemqffqqe
      181 nvrkiltdvl fcyareneql lykqgmhell apivfvlhcd hqaflhases aqpseemktv
      241 lnpeylehda yavfsqlmet aepwfstfeh dgqkgketlm tpipfarpqd lgptiaivtk
      301 vnqiqdhllk khdielymhl nrleiapqiy glrwvrllfg refplqdllv vwdalfadgl
      361 slglvdyifv amllyirdal issnyqtclg llmhypfigd vhslilkalf lrdpkrnprp
      421 vtyqfhpnld yykargadlm nksrtnakga plninkvsns linfgrklis pamapgsagg
      481 pvpggnssss ssvviptrts aeapshhlqq qqqqqrlmks esmpvqlnkg dvvtgsdaqv
      541 svpvqtltdl qglsskniss spsveslpgg reftgsppss atkkdsffsn isrsrshskt
      601 mgrkeseeel eaqisflqgq lndldamcky cakvmdthlv niqdvilqen lekedqilvs
      661 laglkqikdi lkgslrfnqs qleaeeneqi tiadnhycss gqgqgrgqgq svqmsgaikq
      721 assetpgctd rgnsddfili skdddgssar gsfsgqaqpl rtlrstsgks qapvcsplvf
      781 sdplmgpasa sssnpssspd ddsskdsgft ivspldi
//
LOCUS       XP_016863298             186 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C4orf45 isoform X1 [Homo sapiens].
ACCESSION   XP_016863298
VERSION     XP_016863298.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017007809.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..186
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..186
                     /product="uncharacterized protein C4orf45 isoform X1"
                     /calculated_mol_wt=21592
     Region          22..133
                     /region_name="DUF4562"
                     /note="Domain of unknown function (DUF4562); pfam15123"
                     /db_xref="CDD:434478"
     CDS             1..186
                     /gene="C4orf45"
                     /coded_by="XM_017007809.2:727..1287"
                     /db_xref="GeneID:152940"
                     /db_xref="HGNC:HGNC:26342"
ORIGIN      
        1 masvsyqkpt sttvgkqmif tgpdyikdyl pkihqhtsyv geqhlalekt gdlrylwrpa
       61 snrslpakyk heyvseigwr ipqynfinks rlgsgfhiky eelsqaslds ithryqnpwq
      121 pkphvldmqg kqsrasfawh msafedtdqr nskwailvrq cksslprask ppklpklpkk
      181 ekkrkh
//
LOCUS       XP_047272315             924 aa            linear   PRI 20-MAR-2023
DEFINITION  inositol polyphosphate 4-phosphatase type II isoform X3 [Homo
            sapiens].
ACCESSION   XP_047272315
VERSION     XP_047272315.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416359.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..924
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..924
                     /product="inositol polyphosphate 4-phosphatase type II
                     isoform X3"
                     /calculated_mol_wt=104607
     Region          39..175
                     /region_name="C2A_Copine"
                     /note="C2 domain first repeat in Copine; cd04048"
                     /db_xref="CDD:176013"
     Site            order(54,60,116,118,135)
                     /site_type="other"
                     /note="putative Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176013"
     CDS             1..924
                     /gene="INPP4B"
                     /coded_by="XM_047416359.1:701..3475"
                     /db_xref="GeneID:8821"
                     /db_xref="HGNC:HGNC:6075"
                     /db_xref="MIM:607494"
ORIGIN      
        1 meikeegase egqhflptaq andpgdcqft siqktpnepq lefilackdl vapvrdrkln
       61 tlvqisvihp veqsltryss teivegtrdp lfltgvtfps eypiyeetki kltvydvkdk
      121 shdtvrtsvl pehkdpppev grsflgyasf kvgellkske qllvlslrts dggkvvgtie
      181 vsvvkmgeie dgeadhittd vqgqkcalvc ectapesvsg kdnlpflnsv lknpvcklyr
      241 fptsdnkwmr ireqmsesil sfhipkelis lhikedlcrn qeikelgels phwdnlrknv
      301 lthcdqmvnm yqdiltelsk etgssfksss skgektlefv pinlhlqrmq vhsphlkdal
      361 ydvitvgapa ahfqgfkngg lrkllhrfet errntgyqfi yyspentaka kevlsninql
      421 qpliathadl llnsasqhsp dslknslkml sektelfvha fkdqlvrsal lalytarpgg
      481 ilkkppspks steesspqdq ppvmrgqdsi phhsdydeee wdrvwanvgk slnciiamvd
      541 klierdggse gsggnndgek epsltdaips hpredwyeql ypliltlkdc mgevvnrakq
      601 sltfvllqel ayslpqclml tlrrdivfsq alaglvcgfi iklqtslydp gflqqlhtvg
      661 livqyeglls tysdeigmle dmavgisdlk kvafkiieak sndvlpvitg rrehyvvevk
      721 lparmfeslp lqikegqllh vypvlfnvgi neqqtlaerf gdvslqesin qenfellqey
      781 ykifmekmpp dyishfqeqn dlkallenll qniqskkrkn veimwlaati crklngirft
      841 ccksakdrts msvtleqcsi lrdehqlhkd ffiraldcmr regcrienvl knikcrkyaf
      901 nmlqlmafpk yyrppegtyg kadt
//
LOCUS       XP_047272683             458 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein POC5 isoform X4 [Homo sapiens].
ACCESSION   XP_047272683
VERSION     XP_047272683.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416727.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..458
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..458
                     /product="centrosomal protein POC5 isoform X4"
                     /calculated_mol_wt=50430
     Region          302..>450
                     /region_name="DUF5585"
                     /note="Family of unknown function (DUF5585); pfam17823"
                     /db_xref="CDD:436069"
     CDS             1..458
                     /gene="POC5"
                     /gene_synonym="C5orf37"
                     /coded_by="XM_047416727.1:321..1697"
                     /db_xref="GeneID:134359"
                     /db_xref="HGNC:HGNC:26658"
                     /db_xref="MIM:617880"
ORIGIN      
        1 mdffsshlla dssspatnss htdaheilvs dflvsdenlq kmenvldlws sglktniise
       61 lskwrlnfid whrmemrkek ekhaahlkql cnqinelkel qktfeisigr kdevisslsh
      121 aigkqkekie lmrtffhwri ghvrarqdvy egkladqyyq rtllkkvwkv wrsvvqkqwk
      181 dvveracqar aeevciqisn dyeakvamls galenakaei qrmqhekehf edsmkkafmr
      241 gvcalnleam tifqnrndag idstnnkkee ygpgvqgkeh sahldpsapp mplpvtspll
      301 psppaavgga satavpsaas mtstraasas svhvpvsalg agsaataase emyvprvvts
      361 aqqkagrtit aritgrcdfa sknrisssla imgvsppmss vvvekhhpvt vqtipqataa
      421 kyprtihpes stsasrslgt rsahtqslts vhsikvvd
//
LOCUS       XP_011541786             951 aa            linear   PRI 20-MAR-2023
DEFINITION  endoplasmic reticulum aminopeptidase 1 isoform X1 [Homo sapiens].
ACCESSION   XP_011541786
VERSION     XP_011541786.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011543484.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..951
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..951
                     /product="endoplasmic reticulum aminopeptidase 1 isoform
                     X1"
                     /calculated_mol_wt=108281
     Region          61..526
                     /region_name="M1_APN-Q_like"
                     /note="Peptidase M1 aminopeptidase N catalytic domain
                     family which includes aminopeptidase N (APN),
                     aminopeptidase Q (APQ), tricorn interacting factor F3, and
                     endoplasmic reticulum aminopeptidase 1 (ERAP1); cd09601"
                     /db_xref="CDD:341064"
     Site            order(181,183,317..320,353..354,357,376,380,433,438)
                     /site_type="active"
                     /db_xref="CDD:341064"
     Region          597..916
                     /region_name="ERAP1_C"
                     /note="ERAP1-like C-terminal domain; pfam11838"
                     /db_xref="CDD:432117"
     CDS             1..951
                     /gene="ERAP1"
                     /gene_synonym="A-LAP; ALAP; APPILS; ARTS-1; ARTS1; ERAAP;
                     ERAAP1; PILS-AP; PILSAP"
                     /coded_by="XM_011543484.3:2435..5290"
                     /db_xref="GeneID:51752"
                     /db_xref="HGNC:HGNC:18173"
                     /db_xref="MIM:606832"
ORIGIN      
        1 mvflplkwsl atmsfllssl lalltvstps wcqsteaspk rsdgtpfpwn kirlpeyvip
       61 vhydllihan lttltfwgtt kveitasqpt stiilhshhl qisratlrkg agerlseepl
      121 qvlehprqeq iallapepll vglpytvvih yagnlsetfh gfykstyrtk egelrilast
      181 qfeptaarma fpcfdepafk asfsikirre prhlaisnmp lvksvtvaeg liedhfdvtv
      241 kmstylvafi isdfesvski tksgvkvsvy avpdkinqad yaldaavtll efyedyfsip
      301 yplpkqdlaa ipdfqsgame nwglttyres allfdaekss assklgitmt vahelahqwf
      361 gnlvtmewwn dlwlnegfak fmefvsvsvt hpelkvgdyf fgkcfdamev dalnsshpvs
      421 tpvenpaqir emfddvsydk gacilnmlre ylsadafksg ivqylqkhsy kntknedlwd
      481 smasicptdg vkgmdgfcsr sqhssssshw hqegvdvktm mntwtlqkgf plititvrgr
      541 nvhmkqehym kgsdgapdtg ylwhvpltfi tsksdmvhrf llktktdvli lpeevewikf
      601 nvgmngyyiv hyeddgwdsl tgllkgthta vssndrasli nnafqlvsig klsiekaldl
      661 slylkhetei mpvfqglnel ipmyklmekr dmnevetqfk aflirllrdl idkqtwtdeg
      721 svsermlrsq llllacvhny qpcvqraegy frkwkesngn lslpvdvtla vfavgaqste
      781 gwdflyskyq fslssteksq iefalcrtqn keklqwllde sfkgdkiktq efpqiltlig
      841 rnpvgyplaw qflrknwnkl vqkfelgsss iahmvmgttn qfstrtrlee vkgffsslke
      901 ngsqlrcvqq tietieenig wmdknfdkir vwlqsekler slyhrlihst v
//
LOCUS       XP_047273423             632 aa            linear   PRI 20-MAR-2023
DEFINITION  succinate dehydrogenase [ubiquinone] flavoprotein subunit,
            mitochondrial isoform X2 [Homo sapiens].
ACCESSION   XP_047273423
VERSION     XP_047273423.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417467.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..632
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..632
                     /product="succinate dehydrogenase [ubiquinone]
                     flavoprotein subunit, mitochondrial isoform X2"
                     /calculated_mol_wt=68950
     Region          40..588
                     /region_name="PTZ00139"
                     /note="Succinate dehydrogenase [ubiquinone] flavoprotein
                     subunit; Provisional"
                     /db_xref="CDD:240286"
     CDS             1..632
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; SDH1;
                     SDH2; SDHF"
                     /coded_by="XM_047417467.1:37..1935"
                     /db_xref="GeneID:6389"
                     /db_xref="HGNC:HGNC:10680"
                     /db_xref="MIM:600857"
ORIGIN      
        1 msgvrglsrl lsarrlalak awptvlqtgt rgfhftvdgn krasakvsds isaqypvvdh
       61 efdavvvgag gaglraafgl seagfntacv tklfptrsht vaaqlenygm pfsrtedgki
      121 yqrafggqsl kfgkggqahr cccvadrtgh sllhtlygrs lrydtsyfve yfaldllmen
      181 gecrgvialc iedgsihrir akntvvatgg ygrtyfscts ahtstgdgta mitraglpcq
      241 dlefvqfhpt giygagclit egcrgeggil insqgerfme ryapvakdla srdvvsrsmt
      301 leiregrgcg pekdhvylql hhlppeqlat rlpgisetam ifagvdvtke pipvlptvhy
      361 nmggiptnyk gqvlrhvngq dqivpglyac geaacasvhg anrlgansll dlvvfgraca
      421 lsieescrpg dkvppikpna geesvmnldk lrfadgsirt selrlsmqks mqnhaavfrv
      481 gsvlqegcgk isklygdlkh lktfdrgmvw ntdlvetlel qnlmlcalqt iygaearkes
      541 rgaharedyk vrideydysk piqgqqkkpf eehwrkhtls yvdvgtgkct areqhithrk
      601 qlcscdggls trkertigar sslnkseshy av
//
LOCUS       XP_047274819             147 aa            linear   PRI 20-MAR-2023
DEFINITION  RWD domain-containing protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047274819
VERSION     XP_047274819.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418863.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..147
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..147
                     /product="RWD domain-containing protein 1 isoform X1"
                     /calculated_mol_wt=16951
     Region          <48..>101
                     /region_name="DFRP_C"
                     /note="DRG Family Regulatory Proteins, Tma46; pfam16543"
                     /db_xref="CDD:435413"
     CDS             1..147
                     /gene="RWDD1"
                     /gene_synonym="CGI-24; PTD013"
                     /coded_by="XM_047418863.1:539..982"
                     /db_xref="GeneID:51389"
                     /db_xref="HGNC:HGNC:20993"
ORIGIN      
        1 mvmiftlvta vqeklneivd qiktrreeek kqkekeaeea ekqlfhgtpv tienflnwka
       61 kfdaelleik kkrmkeeeqa gknklsgkql fetdhnldts diqfledagn nvevdeslfq
      121 emddleledd eddpdynpad pesdsad
//
LOCUS       XP_047275595             162 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase SETMAR-like [Homo sapiens].
ACCESSION   XP_047275595
VERSION     XP_047275595.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419639.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..162
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..162
                     /product="histone-lysine N-methyltransferase SETMAR-like"
                     /calculated_mol_wt=19204
     Region          76..152
                     /region_name="Transposase_1"
                     /note="Transposase (partial DDE domain); pfam01359"
                     /db_xref="CDD:426220"
     CDS             1..162
                     /gene="LOC124901415"
                     /coded_by="XM_047419639.1:280..768"
                     /db_xref="GeneID:124901415"
ORIGIN      
        1 mrevaqelni dhsmvvwhfk qigkvkkldk wvpheltknq kshfemfsfi lsnndeafln
       61 riltcnekwi lydnrdngrp paqwldreap khfrkpnshp krvmvsvwwf aagllhysfl
      121 npgetitsem yvqqidemhl klqylqlalv nrrgpillhd nt
//
LOCUS       XP_047276136             454 aa            linear   PRI 20-MAR-2023
DEFINITION  metalloreductase STEAP2 isoform X3 [Homo sapiens].
ACCESSION   XP_047276136
VERSION     XP_047276136.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420180.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..454
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..454
                     /product="metalloreductase STEAP2 isoform X3"
                     /calculated_mol_wt=51921
     Region          32..217
                     /region_name="COG2085"
                     /note="Predicted dinucleotide-binding enzyme [General
                     function prediction only]"
                     /db_xref="CDD:224996"
     Region          259..405
                     /region_name="Ferric_reduct"
                     /note="Ferric reductase like transmembrane component;
                     pfam01794"
                     /db_xref="CDD:426438"
     CDS             1..454
                     /gene="STEAP2"
                     /gene_synonym="IPCA1; PCANAP1; PUMPCn; STAMP1; STMP"
                     /coded_by="XM_047420180.1:514..1878"
                     /db_xref="GeneID:261729"
                     /db_xref="HGNC:HGNC:17885"
                     /db_xref="MIM:605094"
ORIGIN      
        1 mesismmgsp kslsetflpn gingikdark vtvgvigsgd faksltirli rcgyhvvigs
       61 rnpkfaseff phvvdvthhe daltktniif vaihrehyts lwdlrhllvg kilidvsnnm
      121 rinqypesna eylaslfpds livkgfnvvs awalqlgpkd asrqvyicsn niqarqqvie
      181 larqlnfipi dlgslssare ienlplrlft lwrgpvvvai slatffflys fvrdvihpya
      241 rnqqsdfyki pieivnktlp ivaitllslv ylagllaaay qlyygtkyrr fppwletwlq
      301 crkqlgllsf ffamvhvays lclpmrrser ylflnmayqq vhanienswn eeevwriemy
      361 isfgimslgl lsllavtsip svsnalnwre fsfiqstlgy vallistfhv liygwkrafe
      421 eeyyrfytpp nfvlalvlps ivildllqlc rypd
//
LOCUS       XP_047276150             194 aa            linear   PRI 20-MAR-2023
DEFINITION  thiamin pyrophosphokinase 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047276150
VERSION     XP_047276150.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420194.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..194
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..194
                     /product="thiamin pyrophosphokinase 1 isoform X2"
                     /calculated_mol_wt=21755
     Region          21..192
                     /region_name="PLN02714"
                     /note="thiamin pyrophosphokinase"
                     /db_xref="CDD:178316"
     CDS             1..194
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /coded_by="XM_047420194.1:107..691"
                     /db_xref="GeneID:27010"
                     /db_xref="HGNC:HGNC:17358"
                     /db_xref="MIM:606370"
ORIGIN      
        1 mehaftplep llstgnlkyc lvilnqpldn yfrhlwnkal lracadggan rlyditeger
       61 esflpefing dfdsirpevr eyyatkgcel istpdqdhtd ftkclkmlqk kieekdlkgk
      121 hrlhvdtgme gdwcglipvg qpcmqvtttg lkwnltndvl afgtlvstsn tydgsgvvtv
      181 etdhpllwtm aiks
//
LOCUS       XP_011513752             996 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase 31 isoform X2 [Homo sapiens].
ACCESSION   XP_011513752
VERSION     XP_011513752.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011515450.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..996
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..996
                     /product="serine/threonine-protein kinase 31 isoform X2"
                     /calculated_mol_wt=113130
     Region          38..112
                     /region_name="Tudor_TDRD8"
                     /note="Tudor domain found in Tudor domain-containing
                     protein 8 (TDRD8) and similar proteins; cd20430"
                     /db_xref="CDD:410501"
     Site            order(66,73,90,93,95)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410501"
     Region          <805..945
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..996
                     /gene="STK31"
                     /gene_synonym="SGK396; TDRD8"
                     /coded_by="XM_011515450.2:408..3398"
                     /db_xref="GeneID:56164"
                     /db_xref="HGNC:HGNC:11407"
                     /db_xref="MIM:605790"
ORIGIN      
        1 mdedthydkv edvvgshied avtfwaqsin rnkdimkigc slsevcpqas svlgnldpnk
       61 iygglfsedq cwyrckvlki isvekclvry idygnteiln rsdiveiple lqfssvakky
      121 klwglhipsd qevtqfdqgt tflgslifek eikmrikats edgtviaqae ygsvdigeev
      181 lkkgfaekcr lasrtdicee kkldpgqlvl rnlkspiplw ghrsnqstfs rpkghlsekm
      241 tldlkdenda gnlitfpkes lavgdfnlgs nvslekikqd qklieenekl ktekdalles
      301 ykalelkveq iaqelqqeka aavdltnhle ytlktyidtr mknlaakmei lkemrhvdis
      361 vrfgkdlsda iqvldegcft tpaslnglei iwaeyslaqe niktceyvse gniliaqrne
      421 mqqklymsve dfilevdess lnkrlktlqd lsvsleavyg qakegansde ilkkfydwkc
      481 dkreeftsvr setdaslhrl vawfqrtlkv fdlsvegsli sedamdnide ilektessvc
      541 keleialvdq gdadkeiisn tysqvlqkih seerliatvq akykdsiefk kqlieylnks
      601 psvdhllsik ktlkslkall rwklveksnl eesddpdgsq iekikeeitq lrnnvfqeiy
      661 hereeyemlt slaqkwfpel pllhpeigll kymnsggllt mslerdllda epmkelsskr
      721 plvrsevngq iillkgysvd vdteakvier aatyhrawre aegdsgllpl iflflcksdp
      781 maylmvpyyp ranlnavqan mplnseetlk vmkgvaqglh tlhkadiihg slhqnnvfal
      841 nreqgivgdf dftksvsqra svnmmvgdls lmspelkmgk paspgsdlya ygclllwlsv
      901 qnqefeinkd gipkvdqfhl ddkvksllcs licyrssmta eqvlnaecfl mpkeqsvpnp
      961 ekdteytlyk keeeiktenl dkcmektrng eanfdc
//
LOCUS       XP_047276595             704 aa            linear   PRI 20-MAR-2023
DEFINITION  protein PHTF2 isoform X3 [Homo sapiens].
ACCESSION   XP_047276595
VERSION     XP_047276595.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420639.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..704
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..704
                     /product="protein PHTF2 isoform X3"
                     /calculated_mol_wt=79686
     Region          5..154
                     /region_name="Phtf-FEM1B_bdg"
                     /note="Male germ-cell putative homeodomain transcription
                     factor; pfam12129"
                     /db_xref="CDD:432350"
     CDS             1..704
                     /gene="PHTF2"
                     /coded_by="XM_047420639.1:149..2263"
                     /db_xref="GeneID:57157"
                     /db_xref="HGNC:HGNC:13411"
                     /db_xref="MIM:616785"
ORIGIN      
        1 maskvtdaiv wyqkkigayd qqiweksveq reikglrnkp kktahvkpdl idvdlvrgsa
       61 fakakpespw tsltrkgivr vvffpfffrw wlqvtskvif fwllvlyllq vaaivlfcst
      121 ssphsiplte vigpiwlmll lgtvhcqivs trtpkpplst ggkrrrklrk aahlevhreg
      181 dgssttdntq egavqnhgts tshsvgtvfr dlwhaaffls gskkaknsid kstetdngyv
      241 sldgkktvks gedgiqnhep qcetirpeet awntgtlrng pskdtqrtit nvsdevssee
      301 gpetgyslrr hvdrtsegvl rnrkshhykk hypnedapks gtscssrcss srqdsesarp
      361 esetedvlwe dllhcaechs sctsetdven hqinpcvkke yrddpfhqvn shipgigyqi
      421 fgnavslilg ltpfvfrlsq atdleqltah saselyviaf gsnedvivls mviisfvvrv
      481 slvwifffll cvaertykqr llfaklfghl tsarrarkse vphfrlkkvq nikmwlslrs
      541 ylkrrgpqrs vdvivssafl ltisvvficc aqllhvheif ldchynwelv iwcisltlfl
      601 lrfvtlgset skkysntsil lteqinlylk mekkpnkkee ltlvnnvlkl atkllkelds
      661 pfrlygltmn pllynitqvv ilsavsgvis dllgfnlklw kiks
//
LOCUS       XP_011514786            1231 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 136 isoform X7 [Homo
            sapiens].
ACCESSION   XP_011514786
VERSION     XP_011514786.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011516484.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1231
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1231
                     /product="coiled-coil domain-containing protein 136
                     isoform X7"
                     /calculated_mol_wt=142004
     Region          <84..451
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          155..821
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          <918..>1045
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1231
                     /gene="CCDC136"
                     /gene_synonym="NAG6"
                     /coded_by="XM_011516484.2:57..3752"
                     /db_xref="GeneID:64753"
                     /db_xref="HGNC:HGNC:22225"
                     /db_xref="MIM:611902"
ORIGIN      
        1 meagagagag aagwscpgpg ptvttlgsye asegcerkkg qrwgslerrg mqamegevll
       61 palyeeeeee eeeeeeveee eeqvqkggsv gslsvnkhrg lsltetelee lraqvlqlva
      121 eleetrelag qheddslelq gllederlas aqqaevftkq iqqlqgelrs lreeislleh
      181 ekeselkeie qelhlaqaei qslrqaaeds atehesdias lqedlcrmqn eledmerirg
      241 dyemeiaslr aememkssep sgslglsdys glqeelqelr eryhflneey ralqesnssl
      301 tgqladlese rtqraterwl qsqtlsmtsa esqtsemdfl epdpemqllr qqlrdaeeqm
      361 hgmknkcqel cceleelqhh rqvseeeqrr lqrelkcaqn evlrfqtshs vtqneelksr
      421 lctlqkkydt sqdeqnellk mqlqlqtelr qlkvmkstlv enqsekellc rlqklhlqhq
      481 nvtcekekll erqqqlqeel qcheaelqhl rdtvasfkes nekdtethaq lqemkqlyqa
      541 skdelerqkh mydqleqdll lcqlelkelk ashpipedkg kcankcdtll srltelqeky
      601 kasqkemgql qmeqcelled qrrmqeeqgq lqeelhrltl plpksglllk sqelltkled
      661 lcelqllyqg mqeeqkkliq nqdcvlkeql eiheelrrfk eshfqevlen pddsklakss
      721 kcnrnkqprs qaqhaqrpds elgqeiqeli qskllmeqmq alqvmydagq akqellqqeq
      781 grlleerkrl qadlqlclee mqllqvqsps ikmslesygk sygsmvpsne ncrktydttv
      841 ddnesyyksy tstqtssksf lksydsstsa seaygksyct tsnssitykk sygstsssdt
      901 cqksfvssct deepaepedm erfeemvvkv liklqavqam yqisqeehsq lqeqmeklla
      961 kqkdlkeeld acerefkecm eclekpmapq ndkneikelq tklrelqlqy qasmdeqgrl
     1021 lvvqeqlegq lqccqeelrq lrekrpsvvk eargknankn mnknangvkm kkvtkpcsdt
     1081 sesdletrkk irrkmkrtkr krrrkktvkr rrmtptlplk vpkkitpsdf prakrtclgc
     1141 gslwyswllq lwlcmcyptc dsrsqssasw sdgrpwparg qipsghhpql waghtvpeps
     1201 pyvpcvpiss asvtqaekac gerltsiscl v
//
LOCUS       XP_005249890             662 aa            linear   PRI 20-MAR-2023
DEFINITION  radial spoke head 10 homolog B2 isoform X6 [Homo sapiens].
ACCESSION   XP_005249890
VERSION     XP_005249890.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005249833.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..662
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..662
                     /product="radial spoke head 10 homolog B2 isoform X6"
                     /calculated_mol_wt=76885
     Region          11..>126
                     /region_name="PLN03185"
                     /note="phosphatidylinositol phosphate kinase; Provisional"
                     /db_xref="CDD:215619"
     CDS             1..662
                     /gene="RSPH10B2"
                     /coded_by="XM_005249833.5:98..2086"
                     /db_xref="GeneID:728194"
                     /db_xref="HGNC:HGNC:34385"
ORIGIN      
        1 masgtgsyks gniyegqwed nmrhgegrmr wlttneeytg rwergiqngf gthtwflkri
       61 rssqyplrne yigefvngyr hgrgkfyyas gamydgewvs nkkhgmffcl qgrltfkngr
      121 vyegafsndh iagfpdleve fiscldlssg vaprlsrsae lirkldgses hsvlgssiel
      181 dlnllldmyp etvqpeekkq veyavlrnit elrriysfys slgcghsldn tflmtklhfw
      241 rflkdckfhh hkltladmdr ilsanndipv eeihspftti llrtflnyll hlayhiyhee
      301 fqkrspslfl cftklmteni rpnacqikgn lfreqqrtly smsymnkcwe iylaycrpsa
      361 appheptmkm rhflwmlkdf kminkeltaa tfmeviaedn rfiydgidsn fepelvflef
      421 feallsfafi cvtdqmtksy tnvpaddvsg nkhetiytil nqdaqnksps avmshesdaa
      481 hsdsarssss klelspdvnk irksepkikk svshervskm nfkltgkgit ffsseskkye
      541 rpkddreeef ntwvnntyvf fvntlfhayk reeaikekir adrlrstaqa qqrkmeddel
      601 earlnifilr eeeakrhdye vditvlkepa dvssshlild ppkedvtvsp ssktitskkk
      661 kk
//
LOCUS       XP_047277257             148 aa            linear   PRI 20-MAR-2023
DEFINITION  protein tyrosine phosphatase type IVA 3 isoform X3 [Homo sapiens].
ACCESSION   XP_047277257
VERSION     XP_047277257.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421301.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..148
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..148
                     /product="protein tyrosine phosphatase type IVA 3 isoform
                     X3"
                     /calculated_mol_wt=16645
     Region          5..133
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     CDS             1..148
                     /gene="PTP4A3"
                     /gene_synonym="PRL-3; PRL-R; PRL3"
                     /coded_by="XM_047421301.1:1365..1811"
                     /db_xref="GeneID:11156"
                     /db_xref="HGNC:HGNC:9636"
                     /db_xref="MIM:606449"
ORIGIN      
        1 marmnrpapv evsykhmrfl ithnptnatl stfiedlkky gattvvrvce vtydktplek
       61 dgitvvdwpf ddgapppgkv vedwlslvka kfceapgscv avhcvaglgr krrgainskq
      121 ltylekyrpk qrlrfkdpht hktrccvm
//
LOCUS       XP_011515771             628 aa            linear   PRI 20-MAR-2023
DEFINITION  minichromosome maintenance domain-containing protein 2 isoform X5
            [Homo sapiens].
ACCESSION   XP_011515771
VERSION     XP_011515771.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011517469.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..628
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..628
                     /product="minichromosome maintenance domain-containing
                     protein 2 isoform X5"
                     /calculated_mol_wt=70035
     Region          <390..621
                     /region_name="MCM"
                     /note="MCM helicase family; cl28901"
                     /db_xref="CDD:355777"
     CDS             1..628
                     /gene="MCMDC2"
                     /gene_synonym="C8orf45"
                     /coded_by="XM_011517469.3:150..2036"
                     /db_xref="GeneID:157777"
                     /db_xref="HGNC:HGNC:26368"
                     /db_xref="MIM:617545"
ORIGIN      
        1 msnlkmkeaa liyldrsggl qkfiddckyy ndskqsyavy rfkilinpsd vveldaelgn
       61 hilhqplkaa evfqsvcfia vktlsligql qtetqinivl klthlpplps ygldlcefpl
      121 dytsqrfymm qgiviamtti tkytqgarfl csdeacplsk gfqyirvhvp gatesatirn
      181 dflcnlcass lqedrkfrvl gdkqiveiia tkalrafqgy snnqpfrfqs ltiflrdesv
      241 nkmnigneyk iigiptcvkt sqtavciean sitfcnskvp sgisdnfrcl lsltssscwk
      301 ftailanifa sqitppgtyn llklcllmsl vqttdrnkel edcldiliit sdtllidrll
      361 nfsinlvprg irhlvsteif ptlsrnkygt gavsiqagsa llakggicfi gdlashkkdk
      421 leqlqtvles rsitvyipgk kfgedidqqm tfpvqcsfws fvdvdsssrr naqkintlig
      481 qmdcslipan lveafgllin cnesspchpf lptvqhtlnk ainpeglfya asrqfttedf
      541 ekllafaknl nvefsleaer mthgyylasr rirtgsvcgs klsasalkyl vflseaharl
      601 nlrnkvlked vliaallfet sltlkyes
//
LOCUS       XP_016868652             235 aa            linear   PRI 20-MAR-2023
DEFINITION  sorting nexin-31 isoform X15 [Homo sapiens].
ACCESSION   XP_016868652
VERSION     XP_016868652.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017013163.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..235
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..235
                     /product="sorting nexin-31 isoform X15"
                     /calculated_mol_wt=26914
     Region          65..179
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     CDS             1..235
                     /gene="SNX31"
                     /coded_by="XM_017013163.2:846..1553"
                     /db_xref="GeneID:169166"
                     /db_xref="HGNC:HGNC:28605"
                     /db_xref="MIM:619839"
ORIGIN      
        1 mapsldsvlm dcrvavdlly mqaiqdiekg wakptqaqrq kleafqkeds qtkflelare
       61 vrhygylqld pctcdypesg sgavlsvgnn eisccitlpd sqtqdivfqm srvkcwqvtf
      121 lgtlldtdgp qrtlnqnlel rfqysedscw qwfviytkqa fllssclkkm isekmvklaa
      181 entemqievp eqskskkyhi qqsqqkdyss flsrkskiki akddcvfgni keedl
//
LOCUS       XP_024302898             247 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 SUMO-protein ligase NSE2 isoform X2 [Homo sapiens].
ACCESSION   XP_024302898
VERSION     XP_024302898.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024447130.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..247
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..247
                     /product="E3 SUMO-protein ligase NSE2 isoform X2"
                     /calculated_mol_wt=27801
     Region          167..237
                     /region_name="SPL-RING_NSE2"
                     /note="SPL-RING finger found in E3 SUMO-protein ligase
                     NSE2 and similar proteins; cd16651"
                     /db_xref="CDD:438313"
     CDS             1..247
                     /gene="NSMCE2"
                     /gene_synonym="C8orf36; MMS21; NSE2; ZMIZ7"
                     /coded_by="XM_024447130.2:189..932"
                     /db_xref="GeneID:286053"
                     /db_xref="HGNC:HGNC:26513"
                     /db_xref="MIM:617246"
ORIGIN      
        1 mpgrsssnsg stgfisfsgv esalsslknf qacinsgmdt assvaldlve sqtevsseys
       61 mdkamvefat ldrqlnhyvk avqstinhvk eerpekipdl kllvekkfla lqsknsdadf
      121 qnnekfvqfk qqlkelkkqc glqadreadg tegvdediiv tqsqtnftcp itkeemkkpv
      181 knkvcghtye edaivrmies rqkrkkkayc pqigcshtdi rksdliqdea lrraienhnk
      241 krhrhse
//
LOCUS       XP_047278304             465 aa            linear   PRI 20-MAR-2023
DEFINITION  protein phosphatase 1 regulatory subunit 16A isoform X4 [Homo
            sapiens].
ACCESSION   XP_047278304
VERSION     XP_047278304.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422348.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..465
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..465
                     /product="protein phosphatase 1 regulatory subunit 16A
                     isoform X4"
                     /calculated_mol_wt=50405
     Region          11..>264
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          12..38
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(13..14,17..19,21..22,26,29,38,40,42,46..47,50..52,
                     54..55,59,62,71,73,75,79..80,83..85,87..88,92,95,104)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          40..71
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          73..104
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(137..138,141..142,147,149..150,154,157,166,168,170,
                     174..175,178..180,182..183,187,190,199,201,203,207..208,
                     211..213,215..216,220,223)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          168..199
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          201..231
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..465
                     /gene="PPP1R16A"
                     /gene_synonym="MYPT3"
                     /coded_by="XM_047422348.1:1159..2556"
                     /db_xref="GeneID:84988"
                     /db_xref="HGNC:HGNC:14941"
                     /db_xref="MIM:609172"
ORIGIN      
        1 mprsgapssv vlleaaarnd leevrqflgs gvspdlaned gltalhqcci ddfremvqql
       61 leaganinac dsecwtplha aatcghlhlv elliasganl lavntdgnmp ydlcddeqtl
      121 dcletamadr gitqdsieaa ravpelrmld dirsrlqaga dlhapldhga tllhvaaang
      181 fseaaallle hraslsakdq dgweplhaaa ywgqvplvel lvahgadlna kslmdetpld
      241 vcgdeevrak llelkhkhda llraqsrqrs llrrrtssag srgkvvrrvs ltqrtdlyrk
      301 qhaqeaivwq qppptspepp ednddrqtga elrppppeed npevvrphng rvggspvrhl
      361 yskrldrsvs yqlspldstt phtlvhdkah htladlkrqr aaaklqrppp egpespetae
      421 pglpgdtvtp qpdcgfragg dppllkltap aveapverrp ccllm
//
LOCUS       XP_016869407             286 aa            linear   PRI 20-MAR-2023
DEFINITION  putative protein N-methyltransferase FAM86B1 isoform X6 [Homo
            sapiens].
ACCESSION   XP_016869407
VERSION     XP_016869407.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017013918.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..286
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..286
                     /product="putative protein N-methyltransferase FAM86B1
                     isoform X6"
                     /calculated_mol_wt=30615
     Region          6..>43
                     /region_name="FAM86"
                     /note="Family of unknown function; pfam14904"
                     /db_xref="CDD:405574"
     Region          64..215
                     /region_name="AdoMet_MTases"
                     /note="S-adenosylmethionine-dependent methyltransferases
                     (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes
                     that use S-adenosyl-L-methionine (SAM or AdoMet) as a
                     substrate for methyltransfer, creating the product
                     S-adenosyl-L-homocysteine (AdoHcy); cl17173"
                     /db_xref="CDD:450167"
     CDS             1..286
                     /gene="FAM86B1"
                     /coded_by="XM_017013918.3:67..927"
                     /db_xref="GeneID:85002"
                     /db_xref="HGNC:HGNC:28268"
                     /db_xref="MIM:616122"
ORIGIN      
        1 mapeenagte lllqgferrf lasleaklrd ssdsellrdi lqkssggsvt lskstaiish
       61 gttglvtwda alylaewaie npaafinrtv lelgsgaglt glaickmcrp rayifsdphs
      121 rvleqlrgnv llnglslead itgnldsprv tvaqldwdva mvhqlsafqp dvviaadvly
      181 cpeaivslvg vlqrlaacre hkrapevyva ftvrnpetcq lfttelgepp rppgptwcps
      241 cpcrtpvevk elgageklgc stlphyagns grgrpgwdqm gsgsss
//
LOCUS       XP_006717127             441 aa            linear   PRI 20-MAR-2023
DEFINITION  cilia- and flagella-associated protein 157 isoform X2 [Homo
            sapiens].
ACCESSION   XP_006717127
VERSION     XP_006717127.3
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006717064.5
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Mar 26, 2018 this sequence version replaced XP_006717127.2.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 16% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..441
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..441
                     /product="cilia- and flagella-associated protein 157
                     isoform X2"
                     /calculated_mol_wt=51584
     Region          <45..>331
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..441
                     /gene="CFAP157"
                     /gene_synonym="C9orf117"
                     /coded_by="XM_006717064.5:45..1370"
                     /db_xref="GeneID:286207"
                     /db_xref="HGNC:HGNC:27843"
ORIGIN      
        1 mapkksvska gkelevkkkg gkkepvvave pplakemkef yhiqirdled rlaryqrkwd
       61 elavqekmfr qefeqlannk keivaflkrt lnqqvdeitd lneqlqnlql akemekdafe
      121 aqlaqvrhef qetkdqltte niilggklaa leefrlqkee vtdkftllee qvrkqenefr
      181 dyaynlekks vldkdrlrke iiqrvnlvan efhkvttnrm wettkraike nngitlqmar
      241 vsqqgmkllq eneqlkgrqn nlckqlelle ntqkvmarhk rghqkiilml tkkcqeqqqd
      301 tkeaeelrll lsqleqrslq lqvdnqalks qrdqlslqle qqqvdlqrlq qelaneqkvr
      361 asleaalvqa tsflqnilqm hrdeedsdvd vtfqpwhkem lqqllvmlss tvatrpqkaa
      421 cphqesqshg ppkercvplv l
//
LOCUS       XP_047279655             745 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor RFX3 isoform X11 [Homo sapiens].
ACCESSION   XP_047279655
VERSION     XP_047279655.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423699.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..745
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..745
                     /product="transcription factor RFX3 isoform X11"
                     /calculated_mol_wt=83064
     Region          <51..138
                     /region_name="RFX1_trans_act"
                     /note="RFX1 transcription activation region; pfam04589"
                     /db_xref="CDD:428025"
     Region          155..233
                     /region_name="RFX_DNA_binding"
                     /note="RFX DNA-binding domain; pfam02257"
                     /db_xref="CDD:426682"
     CDS             1..745
                     /gene="RFX3"
                     /coded_by="XM_047423699.1:264..2501"
                     /db_xref="GeneID:5991"
                     /db_xref="HGNC:HGNC:9984"
                     /db_xref="MIM:601337"
ORIGIN      
        1 mqtsetgsdt gstvtlqtsv asqaavptqv vqqvpvqqqv qqvqtvqqvq hvypaqvqyv
       61 egsdtvytng airtttypyt etqmysqntg gnyfdtqgss aqvttvvssh smvgtggiqm
      121 gvtggqliss sggtyligns mensghsvth ttraspatlq wlldnyetae gvslprstly
      181 nhylrhcqeh kldpvnaasf gklirsifmg lrtrrlgtrg nskyhyygir vkpdsplnrl
      241 qedmqymamr qqpmqqkqry kpmqkvdgva dgftgsgqqt gtsveqtvia qsqhhqqfld
      301 asralpefge veisslpdgt tfedikslqs lyrehceail dvvvnlqfsl ieklwqtfwr
      361 yspstptdgt titessnlse iesrlpkakl itlckhesil kwmcncdhgm yqalveilip
      421 dvlrpipsal tqairnfaks legwlsnamn nipqrmiqtk vaavsafaqt lrrytslnhl
      481 aqaaravlqn tsqinqmlsd lnrvdfanvq eqaswvcqcd dnmvqrletd fkmtlqqqst
      541 leqwaawldn vmmqalkpye grpsfpkaar qfllkwsfys smvirdltlr saasfgsfhl
      601 irllydeymf ylvehrvaqa tgetpiavmg etnlvdeknt pimelfiskl lnfgdlnavs
      661 pgnldkdegs evesemdeel ddssepqakr ektelsqafp vgcmqpvlet gvqpsllnpi
      721 hsehivtstq tirqcsatgn tytav
//
LOCUS       XP_054185094             318 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear distribution protein nudE homolog 1 isoform X14 [Homo
            sapiens].
ACCESSION   XP_054185094
VERSION     XP_054185094.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329119.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187607.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..318
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.12-12.3"
     Protein         1..318
                     /product="nuclear distribution protein nudE homolog 1
                     isoform X14"
                     /calculated_mol_wt=35780
     CDS             1..318
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /coded_by="XM_054329119.1:94..1050"
                     /db_xref="GeneID:54820"
                     /db_xref="HGNC:HGNC:17619"
                     /db_xref="MIM:609449"
ORIGIN      
        1 medsgktfss eeeeanywkd lamtykqrae ntqeelrefq egsreyeael etqlqqietr
       61 nrdllsennr lrmeletikk fevqhsegyr qisaleddla qtkaikdqlq kyireleqan
      121 ddlerakrat imsledfeqr lnqaiernaf leseldeken llesvqrlkd eardlrqela
      181 vqqkqekprt pmpssveaer tdtavqatgs vpstpiahrg pssslntpgs frrglddstg
      241 gtpltpaari salnivgdll rkvgvgeapg iweaafthvf iaaavspggs qdvalgkprk
      301 lkvlvlvrks lpfvvflh
//
LOCUS       XP_047298810             477 aa            linear   PRI 20-MAR-2023
DEFINITION  putative pyridoxal-dependent decarboxylase domain-containing
            protein 2 isoform X6 [Homo sapiens].
ACCESSION   XP_047298810
VERSION     XP_047298810.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442854.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187607.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..477
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.12-12.3"
     Protein         1..477
                     /product="putative pyridoxal-dependent decarboxylase
                     domain-containing protein 2 isoform X6"
                     /calculated_mol_wt=52348
     Region          <157..379
                     /region_name="AAT_I"
                     /note="Aspartate aminotransferase (AAT) superfamily (fold
                     type I) of pyridoxal phosphate (PLP)-dependent enzymes.
                     PLP combines with an alpha-amino acid to form a compound
                     called a Schiff base or aldimine intermediate, which
                     depending on the reaction, is the...; cl18945"
                     /db_xref="CDD:450240"
     CDS             1..477
                     /gene="LOC124900586"
                     /coded_by="XM_047442854.1:175..1608"
                     /db_xref="GeneID:124900586"
ORIGIN      
        1 mgknlkeavk mledsqrrte eengkklisg dipgplqgsg qdmvsilqlv qnlmhgdede
       61 epqspriqni geqghmallg hslgayistl dkeklrkltt rilsdttlwl crifryengc
      121 ayfheeereg lakicrlaih sryedfvvdg fnvlynkkpv iylsaaarpg lgqylcnqlg
      181 lpfpclcrvp cntvfgsqhq mdvaflekli kddiergrlp lllvanagta avghtdkigr
      241 lkelceqygi wlhvegvnla tlalgyvsss vlaaakcdsm tmtpgpwlgl pavpavtlyk
      301 hddpaltlva gltsnkptdk lralplwlsl qylgldgfve rikhacqlsq rlqeslkkvn
      361 yikilvedel sspvvvfrff qelpgsdpvf kavpvpnmtp sgvgrerhsc dalnrwlgeq
      421 lkqlvpasgl tvmdleaegt clrfsplmta aapegllswt psgagkqepp gpgqspq
//
LOCUS       XP_054184570            1018 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing protein 37A isoform X7 [Homo
            sapiens].
ACCESSION   XP_054184570
VERSION     XP_054184570.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328595.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167251.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1018
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31-21.32"
     Protein         1..1018
                     /product="leucine-rich repeat-containing protein 37A
                     isoform X7"
                     /calculated_mol_wt=111794
     CDS             1..1018
                     /gene="LRRC37A"
                     /gene_synonym="LRRC37"
                     /coded_by="XM_054328595.1:4..3060"
                     /db_xref="GeneID:9884"
                     /db_xref="HGNC:HGNC:29069"
                     /db_xref="MIM:616555"
ORIGIN      
        1 mtsaqcpala cvmsplrfwg pwpllmwqll wllvkeaqpl ewvkdplqlt snplgppepw
       61 sshsshfpre sphaptlpad pwdfdhlgps assempappq estenlvpfl dtwdsagelp
      121 lepeqflasq qdlkdklspq erlpvspkkl kkdpaqrwsl aeiigiirql stpqsqkqtl
      181 qneysstdtp ypgslppelr vksdeppgps eqvgpsqfhl epetqnpetl ediqssslqq
      241 eapaqlpqll eeepssmqqe apalppessm esltlpnhev svqppgedqa yyhlpnitvk
      301 padvevtits eptnetessq aqqetpiqfp eevepsatqq eapieppvpp mehelsiseq
      361 qqpvqpsesp revessptqq etpgqppehh evtvsppghh qthhlaspsv svkppdvqlt
      421 iaaepsaevg tslvhqeatt rlsgsgndve ppaiqhggpp llpesseeag plavqqetsf
      481 qspepinnen psptqqeaaa ehpqtaeege sslthqeapa qtpefpnvvv aqppehshlt
      541 qatvqpldlg ftitpeskte velsptmket ptqppkkvvp qlrvyqgvtn ptpgqdqaqh
      601 pvspsvtvql ldlgltitpe pttevghstp pkrtivspkh pevtlphpdq vqtqhshltr
      661 atvqpldlgf titpksmtev epstalmtta pppghpevtl ppsdkgqaqh shltqatvqp
      721 ldleltittk pttevkpspt teetstqppd lglaiipept tetghstale kttaprpdrv
      781 qtlhrsltev tgpptelepa qdslvqsesy tqnkaltape ehkaststni celctcgdem
      841 lscidlnpeq rlrqvpvpep nthngtftil nfqgnyisyi dgnvwkaysw teklilrenn
      901 ltelhkdsfe gllslqyldl scnkiqsier htfeplpflk finlscnvit elsfgtfqaw
      961 hgmqflhkli lnhnplttve dpylfklpal kyldmgttlv plttlknilm mtvelekl
//
LOCUS       XP_054185591             207 aa            linear   PRI 20-MAR-2023
DEFINITION  probable DNA dC->dU-editing enzyme APOBEC-3A isoform X1 [Homo
            sapiens].
ACCESSION   XP_054185591
VERSION     XP_054185591.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329616.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003315972.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..207
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     Protein         1..207
                     /product="probable DNA dC->dU-editing enzyme APOBEC-3A
                     isoform X1"
                     /calculated_mol_wt=23693
     CDS             1..207
                     /gene="APOBEC3A_B"
                     /gene_synonym="A3A; APOBEC3A"
                     /coded_by="XM_054329616.1:2474..3097"
                     /db_xref="GeneID:100913187"
                     /db_xref="HGNC:HGNC:44196"
ORIGIN      
        1 measpasgpr hlmdphifts nfnngigrhk tylcyeverl dngtsvkmdq hrgflhnqak
       61 nllcgfygrh aelrfldlvp slqldpaqiy rvtwfiswsp cfswgcagev raflqenthv
      121 rlrifaariy dydplykeal qmlrdagaqv simtydesgk lkdgpqslrk aetwveqqnk
      181 rssskkckqt vhhhlqlltd tskamcs
//
LOCUS       XP_054186333             984 aa            linear   PRI 20-MAR-2023
DEFINITION  epithelial discoidin domain-containing receptor 1 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054186333
VERSION     XP_054186333.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330358.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167245.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..984
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..984
                     /product="epithelial discoidin domain-containing receptor
                     1 isoform X6"
                     /calculated_mol_wt=108510
     CDS             1..984
                     /gene="DDR1"
                     /gene_synonym="CAK; CD167; DDR; EDDR1; HGK2; MCK10; NEP;
                     NTRK4; PTK3; PTK3A; RTK6; TRKE"
                     /coded_by="XM_054330358.1:482..3436"
                     /db_xref="GeneID:780"
                     /db_xref="HGNC:HGNC:2730"
                     /db_xref="MIM:600408"
ORIGIN      
        1 mslprccphp lrpegsgamg pealssllll llvasgdadm kghfdpakcr yalgmqdrti
       61 pdsdisasss wsdstaarhs rlessdgdga wcpagsvfpk eeeylqvdlq rlhlvalvgt
      121 qgrhagglgk efsrsyrlry srdgrrwmgw kdrwgqevis gnedpegvvl kdlgppmvar
      181 lvrfypradr vmsvclrvel ygclwrdgll sytapvgqtm ylseavylnd stydghtvgg
      241 lqygglgqla dgvvglddfr ksqelrvwpg ydyvgwsnhs fssgyvemef efdrlrafqa
      301 mqvhcnnmht lgarlpggve crfrrgpama wegepmrhnl ggnlgdprar avsvplggrv
      361 arflqcrflf agpwllfsei sfisdvvnns spalggtfpp apwwppgppp tnfsslelep
      421 rgqqpvakae gsptailigc lvaiilllll iialmlwrlh wrrllskaer rvleeeltvh
      481 lsvpgdtili nnrpgprepp pyqeprprgn pphsapcvpn gsalllsnpa yrlllatyar
      541 pprgpgpptp awakptntqa ysgdymepek pgapllpppp qnsvphyaea divtlqgvtg
      601 gntyavpalp pgavgdgppr vdfprsrlrf keklgegqfg evhlcevdsp qdlvsldfpl
      661 nvrkghpllv avkilrpdat knasfslfsr ndflkevkim srlkdpniir llgvcvqddp
      721 lcmitdymen gdlnqflsah qledkaaega pgdgqaaqgp tisypmllhv aaqiasgmry
      781 latlnfvhrd latrnclvge nftikiadfg msrnlyagdy yrvqgravlp irwmawecil
      841 mgkfttasdv wafgvtlwev lmlcraqpfg qltdeqvien ageffrdqgr qvylsrppac
      901 pqglyelmlr cwsreseqrp pfsqlhrfla edalntkpls ptqlvlwmgs sppssshplg
      961 kggekyridt ghgplehlgp tgqh
//
LOCUS       XP_054187106             937 aa            linear   PRI 20-MAR-2023
DEFINITION  epithelial discoidin domain-containing receptor 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054187106
VERSION     XP_054187106.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331131.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..937
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..937
                     /product="epithelial discoidin domain-containing receptor
                     1 isoform X1"
                     /calculated_mol_wt=103556
     CDS             1..937
                     /gene="DDR1"
                     /gene_synonym="CAK; CD167; DDR; EDDR1; HGK2; MCK10; NEP;
                     NTRK4; PTK3; PTK3A; RTK6; TRKE"
                     /coded_by="XM_054331131.1:376..3189"
                     /db_xref="GeneID:780"
                     /db_xref="HGNC:HGNC:2730"
                     /db_xref="MIM:600408"
ORIGIN      
        1 mslprccphp lrpegsgamg pealssllll llvasgdadm kghfdpakcr yalgmqdrti
       61 pdsdisasss wsdstaarhs rlessdgdga wcpagsvfpk eeeylqvdlq rlhlvalvgt
      121 qgrhagglgk efsrsyrlry srdgrrwmgw kdrwgqevis gnedpegvvl kdlgppmvar
      181 lvrfypradr vmsvclrvel ygclwrdgll sytapvgqtm ylseavylnd stydghtvgg
      241 lqygglgqla dgvvglddfr ksqelrvwpg ydyvgwsnhs fssgyvemef efdrlrafqa
      301 mqvhcnnmht lgarlpggve crfrrgpama wegepmrhnl ggnlgdprar avsvplggrv
      361 arflqcrflf agpwllfsei sfisdvvnns spalggtfpp apwwppgppp tnfsslelep
      421 rgqqpvakae gsptailigc lvaiilllll iialmlwrlh wrrllskaer rvleeeltvh
      481 lsvpgdtili nnrpgprepp pyqeprprgn pphsapcvpn gsalllsnpa yrlllatyar
      541 pprgpgpptp awakptntqa ysgdymepek pgapllpppp qnsvphyaea divtlqgvtg
      601 gntyavpalp pgavgdgppr vdfprsrlrf keklgegqfg evhlcevdsp qdlvsldfpl
      661 nvrkghpllv avkilrpdat knasfslfsr ndflkevkim srlkdpniir llgvcvqddp
      721 lcmitdymen gdlnqflsah qledkaaega pgdgqaaqgp tisypmllhv aaqiasgmry
      781 latlnfvhrd latrnclvge nftikiadfg msrnlyagdy yrvqgravlp irwmawecil
      841 mgkfttasdv wafgvtlwev lmlcraqpfg qltdeqvien ageffrdqgr qvylsrppac
      901 pqglyelmlr cwsreseqrp pfsqlhrfla edalntv
//
LOCUS       XP_054187737             749 aa            linear   PRI 20-MAR-2023
DEFINITION  amyloid-beta A4 precursor protein-binding family A member 2 isoform
            X1 [Homo sapiens].
ACCESSION   XP_054187737
VERSION     XP_054187737.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331762.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_011332701.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..749
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.1-13.3"
     Protein         1..749
                     /product="amyloid-beta A4 precursor protein-binding family
                     A member 2 isoform X1"
                     /calculated_mol_wt=82381
     CDS             1..749
                     /gene="APBA2"
                     /gene_synonym="D15S1518E; HsT16821; LIN-10; MGC:14091;
                     MINT2; X11-BETA; X11L"
                     /coded_by="XM_054331762.1:506..2755"
                     /db_xref="GeneID:321"
                     /db_xref="HGNC:HGNC:579"
                     /db_xref="MIM:602712"
ORIGIN      
        1 mahrklesvg sgmldhrvrp gpvphsqepe sedmelpleg yvpeglelaa lrpespapee
       61 qechnhspdg dsssdyvnnt seeedydegl peeeegityy irycpeddsy legmdcngee
      121 ylahsahpvd tdecqeavee wtdsagphph gheaegsqdy pdgqlpiped epsvleahdq
      181 eedghycask egyqdyypee angntgaspy rlrrgdgdle dqeedidqiv aeikmslsmt
      241 sitsaseasp ehgpepgped sveacppika scspsrhear pkslnllpea khpgdpqrgf
      301 kpktrtpeer lkwpheqvcn gleqprkqqr sdlngpvdnn nipetkkvas fpsfvavpgp
      361 cepedlidgi ifaanylgst qllsernpsk nirmmqaqea vsrvkrmqka akikkkanse
      421 gdaqtltevd lfistqrikv lnadtqetmm dhalrtisyi adignivvlm arrrmprsas
      481 qdciettpga qegkkqykmi chvfesedaq liaqsigqaf svayqeflra nginpedlsq
      541 keysdiintq emynddlihf snsenckelq lekhkgeilg vvvvesgwgs ilptvilanm
      601 mnggpaarsg klsigdqims ingtslvglp latcqgiikg lknqtqvkln ivscppvttv
      661 likrpdlkyq lgfsvqngii cslmrggiae rggvrvghri ieingqsvva tahekivqal
      721 snsvgeihmk tmpaamfrll tgqetplyi
//
LOCUS       XP_054189382             355 aa            linear   PRI 20-MAR-2023
DEFINITION  OTU domain-containing protein 5 isoform X4 [Homo sapiens].
ACCESSION   XP_054189382
VERSION     XP_054189382.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333407.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791820) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..355
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     Protein         1..355
                     /product="OTU domain-containing protein 5 isoform X4"
                     /calculated_mol_wt=39540
     CDS             1..355
                     /gene="OTUD5"
                     /gene_synonym="DUBA; MCAND"
                     /coded_by="XM_054333407.1:110..1177"
                     /db_xref="GeneID:55593"
                     /db_xref="HGNC:HGNC:25402"
                     /db_xref="MIM:300713"
ORIGIN      
        1 mkedgaclfr avadqvygdq dmhevvrkhc mdylmknady fsnyvtedft tyinrkrknn
       61 chgnhiemqa maemynrpve vyqystgtsa vepintfhgi hqnedepirv syhrnihyns
      121 vvnpnkatig vglglpsfkp gfaeqslmkn aiktseeswi eqqmledkkr atdweatnea
      181 ieeqvaresy lqwlrdqekq arqvrgpsqp rkasatcssa taaassglee wtsrsprqrs
      241 sasspehpel haelgmkpps pgtvlalakp pspcapgtss qfsagadrat splvslypal
      301 ecraliqqms psafaglndw dddeilasvl avsqqeylds mkknkvhrdp ppdks
//
LOCUS       XP_054190141             987 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Niban 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054190141
VERSION     XP_054190141.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334166.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..987
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..987
                     /product="protein Niban 1 isoform X3"
                     /calculated_mol_wt=110225
     CDS             1..987
                     /gene="NIBAN1"
                     /gene_synonym="C1orf24; FAM129A; GIG39; NIBAN"
                     /coded_by="XM_054334166.1:93..3056"
                     /db_xref="GeneID:116496"
                     /db_xref="HGNC:HGNC:16784"
                     /db_xref="MIM:619294"
ORIGIN      
        1 meislapfhr rsnqglqrie nlakviqpvc srrrfelkyf lppkslllte lcclpdghsh
       61 csfhlnflfs vhafshmrkt eaaiknfspy ysrqysvafc nhvrteveqq rdltsqflkt
      121 kpplapgtil yeaelsqfse dikkwkeryv vvkndyaves yenkeayqrg aapkcrilpa
      181 ggkvltsede ynllsdrhfp dplasseken tqpfvvlpke fpvylwqpff rhgyfcfhea
      241 adqkrfsall sdcvrhlnhd ymkqmtfeaq afleavqffr qekghygswe mitgdeiqil
      301 snlvmeellp tlqtdllpkm kgkkndrkrt wlglleeayt lvqhqvsegl salkeecral
      361 tkglegtirs dmdqivnskn yligkikamv aqpaekscle svqpflasil eelmgpvssg
      421 fsevrvlfek evnevsqnfq ttkdsvqlke hldrlmnlpl hsvkmepcyt kvnllherlq
      481 dlksrfrfph idlvvqrtqn ymqelmenav ftfeqllsph lqgeasktav aiekvklrvl
      541 kqydydssti rkkifqealv qitlptvqka lastckpelq kyeqfifadh tnmihvenvy
      601 eeilhqilld etlkvikeaa ilkkhnlfed nmalpsesvs sltdlkpptg snqasparra
      661 sailpgvlgs etlsnevfqe seeekqpevp sslakgesls lpgpspppdg teqviisrvd
      721 dpvvnpvate dtaglpgtcs selefggtle deepaqeepe pitasgslka lrklltasve
      781 vpvdsapvme edtngeshvp qeneeeeeke psqaaaihpd nceesevser eaqppcpeah
      841 geelggfpev gspasppasg glteeplgpm egelpgeact ltahegrggk cteegdasqq
      901 egctlgsdpi clsesqvsee qeemggqssa aqatasvnae eikvarihec qwvvedapnp
      961 dvllshkddv kegeggqesf pelpsee
//
LOCUS       XP_054191137            1121 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 6 isoform X42
            [Homo sapiens].
ACCESSION   XP_054191137
VERSION     XP_054191137.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335162.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1121
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1121
                     /product="pleckstrin homology domain-containing family A
                     member 6 isoform X42"
                     /calculated_mol_wt=125910
     CDS             1..1121
                     /gene="PLEKHA6"
                     /gene_synonym="PEPP-3; PEPP3"
                     /coded_by="XM_054335162.1:198..3563"
                     /db_xref="GeneID:22874"
                     /db_xref="HGNC:HGNC:17053"
                     /db_xref="MIM:607771"
ORIGIN      
        1 msnktggkrp attnsdipnh nmvsevpper psvratrtar kaiafgkrsh smkrnpnapv
       61 tkagwlfkqa ssgvkqwnkr wfvlvdrclf yykdekeesi lgsipllsfr vaavqpsdni
      121 srkhtfkvtv cwvdeaeass trclslqaeh agvrtyffsa espeeqeawi qamgeaarvq
      181 ippaqksvpq avrhshekpd senvppskhh qqpphnslpk pepeaktrge gdgrgcekae
      241 rrperpevkk eppvkanglp agpepasepg spypegprvp gggeqpaqpn gwqyhspsrp
      301 gstafpsqdg etgghrrsfp prtnpdkiaq rkssmnqlqq wvnlrrgvpp pedlrspsrf
      361 ypvsrrvpey ygpyssqypd dyqyyppgvr pesicsmpay drisppwale dkrhafrngg
      421 gpayqlrewk epasygrqda tvwipspsrq pvyydeldaa ssslrrlslq prshsvprsp
      481 sqgsysrari yspvrspsar ferlpprsed iyadpaayvm rrsisspkyd ylgdrrpvpa
      541 glfpynypps ptvhdkmdel ldlqlqrnle yldqqmsese tlismvnrmv enssprsqlf
      601 mqvppypevf rdslhtykln eqdtdkllgk lceqnkvvre qdrlvqqlra ekeslesalm
      661 gthqelemfg sqpaypeklr hkkdslqnql inirvelsqa ttaltnstie yehlesevsa
      721 lhddlweqln ldtqnevlnr qiqkeiwriq dvmeglrknn psrgtdtakh rgglgpsaty
      781 ssnspaspls sasltsplsp fslvsgsqgs ptkpgsnepk anyeqskkdp hqtlpldtpr
      841 dislvptrqe veaekqaaln kvgvvpprtk sptddevtps avvrrnasgl tnglssqerp
      901 ksavfpgegk vkmsveeqid rmrrhqsgsm rekrrslqlp aspapdpspr paykvvrrhr
      961 sihevdisnl eaalraeepg ghayetpree iarlrkmele pqhydvdink elstpdkvli
     1021 peryidlepd tplspeelke kqkkverikt liakssmqnv vpigegdsvd vpqdsesqlq
     1081 eqekrieisc alateasrrg rmlsvqalae anavklhrat f
//
LOCUS       XP_054191485            1652 aa            linear   PRI 20-MAR-2023
DEFINITION  terminal uridylyltransferase 4 isoform X1 [Homo sapiens].
ACCESSION   XP_054191485
VERSION     XP_054191485.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335510.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1652
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1652
                     /product="terminal uridylyltransferase 4 isoform X1"
                     /calculated_mol_wt=185815
     CDS             1..1652
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /coded_by="XM_054335510.1:256..5214"
                     /db_xref="GeneID:23318"
                     /db_xref="HGNC:HGNC:28981"
                     /db_xref="MIM:613692"
ORIGIN      
        1 meesktlkse nhepkknvic eeskavqvig nqtlkarndk svkeienssp nrnsskknkq
       61 ndiciektev ksckvnaanl pgpkdlglvl rdqshckakk fpnspvkaek atisqaksek
      121 atslqakaek spkspnsvka ekassyqmks ekvpsspaea ekgpslllkd mrqktelqqi
      181 gkkipssfts vdkvnieavg gekcalqnsp rsqkqqtctd ntgdsddsas giedvsddls
      241 kmkndesnke nssemdylen atvidesalt peqrlglkqa eerlerdhif rlekrspeyt
      301 ncrylcklcl ihieniqgah khikekrhkk nilekqeese lrslpppspa hlaalsvavi
      361 elakehgitd ddlrvrqeiv eemskvittf lpecslrlyg ssltrfalks sdvnidikfp
      421 pkmnhpdlli kvlgilkknv lyvdvesdfh akvpvvvcrd rksgllcrvs agndmacltt
      481 dlltalgkie pvfiplvlaf rywaklcyid sqtdggipsy cfalmvmffl qqrkppllpc
      541 llgswiegfd pkrmddfqlk giveekfvkw ecnsssatek nsiaeenkak adqpkddtkk
      601 tetdnqsnam kekhgkspla letpnrvslg qlwlellkfy tldfaleeyv icvriqdilt
      661 renknwpkrr iaiedpfsvk rnvarslnsq lvyeyvverf raayryfacp qtkggnkstv
      721 dfkkrekgki snkkpvksnn matngcillg ettekinaer eqpvqcdemd ctsqrciidn
      781 nnllvneldf adhgqdsssl stsksseiep kldkkqddla psetclkkel sqcncidlsk
      841 spdpdkstgt dcrsnletes shqsvctdts atscnckate dasdlndddn lptqelyyvf
      901 dkfiltsgkp ptivcsickk dghskndcpe dfrkidlkpl ppmtnrfrei ldlvckrcfd
      961 elsppcseqh nreqiligle kfiqkeydek arlclfgssk ngfgfrdsdl dicmtleghe
     1021 naeklnckei ienlakilkr hpglrnilpi ttakvpivkf ehrrsglegd islyntlaqh
     1081 ntrmlatyaa idprvqylgy tmkvfakrcd igdasrgsls syayilmvly flqqrkppvi
     1141 pvlqeifdgk qipqrmvdgw nafffdktee lkkrlpslgk nteslgelwl gllrfyteef
     1201 dfkeyvisir qkkllttfek qwtskciaie dpfdlnhnlg agvsrkmtnf imkafingrk
     1261 lfgtpfypli greaeyffds rvltdgelap ndrccrvcgk ighymkdcpk rkssllfrlk
     1321 kkdseeekeg neeekdsrdv ldprdlhdtr dfrdprdlrc ficgdaghvr recpevklar
     1381 qrnssvaaaq lvrnlvnaqq vagsaqqqgd qsirtrqsse csespsyspq pqpfpqnssq
     1441 saaitqpssq pgsqpklgpp qqgaqpphqv qmplynfpqs ppaqyspmhn mgllpmhplq
     1501 ipapswpihg pvihsapgsa psniglndps iifaqpaarp vaipntshdg hwprtvapns
     1561 lvnsgavgns epgfrgltpp ipwehaprph fplvpaswpy glhqnfmhqg narfqpnkpf
     1621 ytqaglpmhs nqpillsqgy pylnvsyiqq kk
//
LOCUS       XP_054191495            1617 aa            linear   PRI 20-MAR-2023
DEFINITION  terminal uridylyltransferase 4 isoform X48 [Homo sapiens].
ACCESSION   XP_054191495
VERSION     XP_054191495.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335520.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1617
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1617
                     /product="terminal uridylyltransferase 4 isoform X48"
                     /calculated_mol_wt=181962
     CDS             1..1617
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /coded_by="XM_054335520.1:256..5109"
                     /db_xref="GeneID:23318"
                     /db_xref="HGNC:HGNC:28981"
                     /db_xref="MIM:613692"
ORIGIN      
        1 meesktlkse nhepkknvic eeskavqvig nqtlkarndk svkeienssp nrnsskknkq
       61 ndiciektev ksckvnaanl pgpkdlglvl rdqshckakk fpnspvkaek atisqaksek
      121 atslqakaek spkspnsvka ekassyqmks ekvpsspaea ekgpslllkd mrqktelqqi
      181 gkkipssfts vdkvnieavg gekcalqnsp rsqkqqtctd ntgdsddsas giedvsddls
      241 kmkndesnke nssemdylen atvidesalt peqrlglkqa eerlerdhif rlekrspeyt
      301 ncrylcklcl ihieniqgah khikekrhkk nilekqeese lrslpppspa hlaalsvavi
      361 elakehgitd ddlrvrqeiv eemskvittf lpecslrlyg ssltrfalks sdvnidikfp
      421 pkmnhpdlli kvlgilkknv lyvdvesdfh akvpvvvcrd rksgllcrvs agndmacltt
      481 dlltalgkie pvfiplvlaf rywakrkppl lpcllgswie gfdpkrmddf qlkgiveekf
      541 vkwecnsssa teknsiaeen kakadqpkdd tkktetdnqs namkekhgks plaletpnrv
      601 slgqlwlell kfytldfale eyvicvriqd iltrenknwp krriaiedpf svkrnvarsl
      661 nsqlvyeyvv erfraayryf acpqtkggnk stvdfkkrek gkisnkkpvk snnmatngci
      721 llgettekin aereqpvqcd emdctsqrci idnnnllvne ldfadhgqds sslstsksse
      781 iepkldkkqd dlapsetclk kelsqcncid lskspdpdks tgtdcrsnle tesshqsvct
      841 dtsatscnck atedasdlnd ddnlptqely yvfdkfilts gkpptivcsi ckkdghsknd
      901 cpedfrkidl kplppmtnrf reildlvckr cfdelsppcs eqhnreqili glekfiqkey
      961 dekarlclfg sskngfgfrd sdldicmtle ghenaeklnc keiienlaki lkrhpglrni
     1021 lpittakvpi vkfehrrsgl egdislyntl aqhntrmlat yaaidprvqy lgytmkvfak
     1081 rcdigdasrg slssyayilm vlyflqqrkp pvipvlqeif dgkqipqrmv dgwnafffdk
     1141 teelkkrlps lgknteslge lwlgllrfyt eefdfkeyvi sirqkklltt fekqwtskci
     1201 aiedpfdlnh nlgagvsrkm tnfimkafin grklfgtpfy pligreaeyf fdsrvltdge
     1261 lapndrccrv cgkighymkd cpkrksllfr lkkkdseeek egneeekdsr dvldprdlhd
     1321 trdfrdprdl rcficgdagh vrrecpevkl arqrnssvaa aqlvrnlvna qqvagsaqqq
     1381 gdqsirtrqs secsespsys pqpqpfpqns sqsaaitqps sqpgsqpklg ppqqgaqpph
     1441 qvqmplynfp qsppaqyspm hnmgllpmhp lqipapswpi hgpvihsapg sapsniglnd
     1501 psiifaqpaa rpvaipntsh dghwprtvap nslvnsgavg nsepgfrglt ppipwehapr
     1561 phfplvpasw pyglhqnfmh qgnarfqpnk pfytqdrcat rrcrercphp prgnvse
//
LOCUS       XP_054191971             455 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 21 isoform X2 [Homo sapiens].
ACCESSION   XP_054191971
VERSION     XP_054191971.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335996.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..455
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..455
                     /product="ubiquitin carboxyl-terminal hydrolase 21 isoform
                     X2"
                     /calculated_mol_wt=51531
     CDS             1..455
                     /gene="USP21"
                     /gene_synonym="USP16; USP23"
                     /coded_by="XM_054335996.1:1563..2930"
                     /db_xref="GeneID:27005"
                     /db_xref="HGNC:HGNC:12620"
                     /db_xref="MIM:604729"
ORIGIN      
        1 misarssepf ysddkmahht lllgsghvgl rnlgntcfln avlqclsstr plrdfclrrd
       61 frqevpgggr aqelteafad vigalwhpds ceavnptrfr avfqkyvpsf sgysqqdaqe
      121 flkllmerlh leinrrgrra ppilangpvp spprrggall eepelsdddr anlmwkryle
      181 redskivdlf vgqlksclkc qacgyrsttf evfcdlslpi pkkgfaggkv slrdcfnlft
      241 keeelesena pvcdrcrqkt rstkkltvqr fprilvlhil ifrfllllgy lpyilfppcf
      301 qriefslgkv chplfhkmlp vcrewgedsf qdrrsspqrp tasqmllnqg ldlnrfsasr
      361 gsikkssvgv dfplqrlslg dfasdkagsp vyqlyalcnh sgsvhyghyt alcrcqtgwh
      421 vyndsrvspv senqvasseg yvlfyqlmqe pprcl
//
LOCUS       XP_054195029             468 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X35
            [Homo sapiens].
ACCESSION   XP_054195029
VERSION     XP_054195029.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339054.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..468
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..468
                     /product="phosphatidylinositol 4-phosphate 5-kinase type-1
                     alpha isoform X35"
                     /calculated_mol_wt=52619
     CDS             1..468
                     /gene="PIP5K1A"
                     /coded_by="XM_054339054.1:446..1852"
                     /db_xref="GeneID:8394"
                     /db_xref="HGNC:HGNC:8994"
                     /db_xref="MIM:603275"
ORIGIN      
        1 masassgpss svgfssfdpa vpsctlssas gikrpmasev learqdsyis lvpyasgmpi
       61 kkighrsvds sgettykktt ssalkgaiql githtvgsls tkperdvlmq dfyvvesiff
      121 psegsnltpa hhyndfrfkt yapvafryfr elfgirpddy lyslcsepli elcssgasgs
      181 lfyvssddef iiktvqhkea eflqkllpgy ymnlnqnprt llpkfyglyc vqaggkniri
      241 vvmnnllprs vkmhikydlk gstykrrasq kerekplptf kdldflqdip dglfldadmy
      301 nalcktlqrd clvlqsfkim dysllmsihn idhaqrepls setqysvdtr rpapqkalys
      361 tamesiqgea rrggtmetdd qfvkklehsw kalvhdgdtv svhrpgfyae rfqrfmcntv
      421 fkkiplqpwk slklqsqssp ikrkasedle qdsaisvipr cqplpqqc
//
LOCUS       XP_054195592            1119 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine/tyrosine-interacting-like protein 2 isoform X1
            [Homo sapiens].
ACCESSION   XP_054195592
VERSION     XP_054195592.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339617.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1119
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1119
                     /product="serine/threonine/tyrosine-interacting-like
                     protein 2 isoform X1"
                     /calculated_mol_wt=125626
     CDS             1..1119
                     /gene="STYXL2"
                     /gene_synonym="DUSP27"
                     /coded_by="XM_054339617.1:128..3487"
                     /db_xref="GeneID:92235"
                     /db_xref="HGNC:HGNC:25034"
ORIGIN      
        1 mvsdaetesi fmepihlssa iaakqiinee lkppgvrada ecpgmlesae qllvedlynr
       61 vrekmddtsl yntpcvldlq ralvqdrqea pwnevdevwp nvfiaeksva vnkgrlkrlg
      121 ithilnaahg tgvytgpefy tgleiqylgv evddfpevdi sqhfrkasef ldealltyrg
      181 kvlvssemgi srsavlvvay lmifhnmail ealmtvrkkr aiypndgflk qlrelneklm
      241 eereedygre ggsaeaeege gtgsmlgarv haltveeedd sashlsgssl gkatqaskpl
      301 tlideeeeek lyeqwkkgqg llsdkvpqdg ggwrsassgq ggeelededv eriiqewqsr
      361 neryqaegyr rwgreeekee esdagssvgr rrrtlsessa wesvsshdiw vlkqqlelnr
      421 pdhgrrrrad smssestwda wnerlleiek easrryhaks kreeaadrss eagsrvredd
      481 edsvgseass fynfcsrnkd kltalerwki kriqfgfhkk dlgagdssge pgaeeavgek
      541 npsdvsltay qawklkhqkk vgsenkeevv elskgedsal akkrqrrlel lersrqtlee
      601 sqsmaswead sstasgsipl safwsadpsv sadgdttsvl stqshrshls qaasniagcs
      661 tsnpttplpn lpvgpgdtis iasiqnwian vvsetlaqkq nemlllsrsp svasmkavpa
      721 asclgddqvs mlsghssssl ggcllpqsqa rpssdmqsvl scnttlsspa escrskvrgt
      781 skpifslfad nvdlkelgrk ekemqmelre kmseykmekl asdnkrsslf kkkkvkeded
      841 dgvgdgdedt dsaigsfrys srsnsqkpet dtcsslavcd hyasgsrvgk emdssinkwl
      901 sglrteekpp fqsdwsgssr gkytrssllr etesksssyk fsksqseeqd tssyheangn
      961 svrstsrfss sstregremh kfsrstynet sssreespep yffrrtpess ereespepqr
     1021 pnwarsrnwe dveessksdf sefgakrkft qsfmrseeeg ekertenree grfasgrrsq
     1081 yrrsndreee eemddeaiia awrrrqeetr tklqkrred
//
LOCUS       XP_054220797             331 aa            linear   PRI 20-MAR-2023
DEFINITION  adenosine kinase isoform X2 [Homo sapiens].
ACCESSION   XP_054220797
VERSION     XP_054220797.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364822.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..331
                     /product="adenosine kinase isoform X2"
                     /calculated_mol_wt=37681
     CDS             1..331
                     /gene="ADK"
                     /gene_synonym="AK"
                     /coded_by="XM_054364822.1:111..1106"
                     /db_xref="GeneID:132"
                     /db_xref="HGNC:HGNC:257"
                     /db_xref="MIM:102750"
ORIGIN      
        1 mtsvrenilf gmgnplldis avvdkdfldk yslkpndqil aedkhkelfd elvkkfkvey
       61 haggstqnsi kvaqwmiqqp hkaatffgci gidkfgeilk rkaaeahvda hyyeqneqpt
      121 gtcaacitgd nrslianlaa ancykkekhl dleknwmlve karvcyiagf fltvspesvl
      181 kvahhasenn riftlnlsap fisqfykesl mkvmpyvdil fgneteaatf areqgfetkd
      241 ikeiakktqa lpkmnskrqr iviftqgrdd timatgrikr kedkwaqwlt pvtlapwevk
      301 vgglldprsw rpalvtarlh lykkkwkkkk n
//
LOCUS       XP_054221183            1916 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 26 isoform X17 [Homo
            sapiens].
ACCESSION   XP_054221183
VERSION     XP_054221183.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365208.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1916
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1916
                     /product="ankyrin repeat domain-containing protein 26
                     isoform X17"
                     /calculated_mol_wt=220558
     CDS             1..1916
                     /gene="ANKRD26"
                     /gene_synonym="bA145E8.1; THC2"
                     /coded_by="XM_054365208.1:91..5841"
                     /db_xref="GeneID:22852"
                     /db_xref="HGNC:HGNC:29186"
                     /db_xref="MIM:610855"
ORIGIN      
        1 mlwspaeegs tksctvaqag vlqhdlsslq sllpgftqff clhlpsswdh rlsgkpgvdd
       61 swptsddedl nfdtknvpkp slaklmtasq qsrknleaty gtvrtgnrtl fedrdsdsqd
      121 evvveslptt sikvqcfshp tyqspdllpk pshkslanpg lmkeeptkpg iakkengidi
      181 iesapleqtn ndnltyvdev hknnrsdmms alglgqeedi espwdsesis enfpqkyvdp
      241 lagaadgkek nigneqaedv fyipscmsgs rnfkmakled trnvgmpvah mesperylhl
      301 kptiemkdsv pnkaggmkdv qtskaaehdl evaseeeqer egsennqpqd kvilktctlt
      361 ektsekqnkq inrplsclqk msqepelnke cdredvsvys glpcvqndee mwtkqgklew
      421 knnlklitne lkqscgetce kykitaspge eslhdnskgg tnlkeipssl tnnildcdek
      481 dspvsvlfqa lpeqkvlsle ngfsfpsysg speyacqsss kpylnenklg henvnkpdte
      541 hvfntdenfy ndtenkkvrn pevvtgvmke efdktknmnr nttnwkldir rvpqysdpkr
      601 pfdlicskem nhmfhikrhs isagtdaykk tkpiqnlfqk plydhcsann yksmepelen
      661 vrsspprgdr tskvslkeel qqdmqrfkne igmlkvefqa lekekvqlqk eveeerkkhr
      721 nnemevsani hdgatddaed dddddgliqk rksgetdhqq fprkenkeya ssgpalqmke
      781 vkstekekrt skesvnspvf gkaslltggl lqvdddssls eidedegrpt kktsneknkv
      841 knqiqsmddv ddltqsseta sedcelphss yknfmllieq lgmeckdsvs llkiqdaals
      901 cerllelkkn hcelltvkik kmedkvnvlq relsetkeik sqlehqkvew erelcslrfs
      961 lnqeeekrrn adtlyekire qlrrkeeqyr kevevkqqle lslqtlemel rtvksnlnqv
     1021 vqerndaqrq lsreqnarml qdgiltnhls kqkeiemaqk kmnsenshsh eeekdlshkn
     1081 smlqeeiaml rleidtiknq nqekekkcfe dlkivkekne dlqktikqne etltqtisqy
     1141 ngrlsvltae namlnsklen ekqskerlea evesyhsrla aaihdrdqse tskrelelaf
     1201 qrardecsrl qdkmnfdvsn lkdnneilsq qlfkteskln sleiefhhtr dalrektlgl
     1261 ervqkdlsqt qcqmkemeqk yqneqvkvnk yigkqesvee rlsqlqsenm llrqqlddah
     1321 nkadnkektv iniqdqfhai vqklqaesek qsllleernk elisecnhlk erqyqyenek
     1381 aerevvvrql qqeladtlkk qsmseaslev tsryrinled etqdlkkklg qirnqlqeaq
     1441 drhteavrca ekmqdhkqkl ekdnaklkvt vkkqmdkiee lqknllnanl sedekeqlkk
     1501 lmelkqslec nldqemkknv elereitgfk nllkmtrkkl neyengefsf hgdlktsqfe
     1561 mdiqinklkh kiddltaele tagskclhld tknqilqeel lsmktvqkkc eklqknkkkl
     1621 eqevinlrsh iernmvelgq vkqykqeiee rarqeiaekl kevnlflqaq aasqenleqf
     1681 rennfasmks qmelrikdle selskiktsq edfnktelek ykqlyleelk vrkslssklt
     1741 ktnerlaevn tkllvekqqs rslfttlttr pvmeppcvgn lnnsldlnrk liprenlvis
     1801 tsnprasnns menylskmqq eleknitrel kegtspaysd lselpgpdlf plpacsslps
     1861 sspcllltqq katgwststt pspddfttvs laafhleeve kgepvgtslm itpyre
//
LOCUS       XP_054223470             487 aa            linear   PRI 20-MAR-2023
DEFINITION  CUGBP Elav-like family member 1 isoform X5 [Homo sapiens].
ACCESSION   XP_054223470
VERSION     XP_054223470.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367495.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..487
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..487
                     /product="CUGBP Elav-like family member 1 isoform X5"
                     /calculated_mol_wt=52003
     CDS             1..487
                     /gene="CELF1"
                     /gene_synonym="BRUNOL2; CUG-BP; CUGBP; CUGBP1; EDEN-BP;
                     hNab50; NAB50; NAPOR"
                     /coded_by="XM_054367495.1:2861..4324"
                     /db_xref="GeneID:10658"
                     /db_xref="HGNC:HGNC:2549"
                     /db_xref="MIM:601074"
ORIGIN      
        1 mngtldhpdq pdldaikmfv gqvprtwsek dlrelfeqyg avyeinvlrd rsqnppqskg
       61 ccfvtfytrk aaleaqnalh nmkvlpgmhh piqmkpadse knnavedrkl figmiskkct
      121 endirvmfss fgqieecril rgpdglsrgc afvtfttram aqtaikamhq aqtmegcssp
      181 mvvkfadtqk dkeqkrmaqq lqqqmqqisa asvwgnlagl ntlgpqylal ylqllqqtas
      241 sgnlntlssl hpmgglnamq lqnlaalaaa asaaqntpsg tnalttsssp lsvltssags
      301 spsssssnsv npiaslgalq tlagatagln vgslagmaal ngglgssgls ngtgstmeal
      361 tqaysgiqqy aaaalptlyn qnlltqqsig aagsqkegpe ganlfiyhlp qefgdqdllq
      421 mfmpfgnvvs akvfidkqtn lskcfgfvsy dnpvsaqaai qsmngfqigm krlkvqlkrs
      481 kndskpy
//
LOCUS       XP_054224692             258 aa            linear   PRI 20-MAR-2023
DEFINITION  dnaJ homolog subfamily B member 13 isoform X4 [Homo sapiens].
ACCESSION   XP_054224692
VERSION     XP_054224692.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368717.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..258
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..258
                     /product="dnaJ homolog subfamily B member 13 isoform X4"
                     /calculated_mol_wt=29383
     CDS             1..258
                     /gene="DNAJB13"
                     /gene_synonym="CILD34; RSPH16A; TSARG5; TSARG6"
                     /coded_by="XM_054368717.1:488..1264"
                     /db_xref="GeneID:374407"
                     /db_xref="HGNC:HGNC:30718"
                     /db_xref="MIM:610263"
ORIGIN      
        1 mkrgiydkfg eeglkggipl efgsqtpwtt gyvfhgkpek vfheffggnn pfseffdaeg
       61 sevdlnfggl qgrgvkkqdp qverdlylsl edlffgctkk ikisrrvlne dgysstikdk
      121 iltidvkpgw rqgtritfek egdqgpniip adiifivkek lhprfrrend nlffvnpipl
      181 gkaltcctve vrtlddrlln ipindiihpk yfkkvpgegm plpedptkkg dlfiffdiqf
      241 ptrltpqkkq mlrqallt
//
LOCUS       XP_054226781             498 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium/calmodulin-dependent protein kinase kinase 2 isoform X8
            [Homo sapiens].
ACCESSION   XP_054226781
VERSION     XP_054226781.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370806.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..498
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..498
                     /product="calcium/calmodulin-dependent protein kinase
                     kinase 2 isoform X8"
                     /calculated_mol_wt=54696
     CDS             1..498
                     /gene="CAMKK2"
                     /gene_synonym="CAMKK; CAMKKB"
                     /coded_by="XM_054370806.1:132..1628"
                     /db_xref="GeneID:10645"
                     /db_xref="HGNC:HGNC:1470"
                     /db_xref="MIM:615002"
ORIGIN      
        1 msscvssqps snraapqdel ggrgsssses qkpcealrgl sslsihlgme sfivvtecep
       61 gcavdlglar drpleadgqe vpldtsgsqa rphlsgrkls lqersqggla aggsldmngr
      121 cicpslpysp vsspqssprl prrptveshh vsitgmqdcv qlnqytlkde igkgsygvvk
      181 laynendnty yamkvlskkk lirqagfprr ppprgtrpap ggciqprgpi eqvyqeiail
      241 kkldhpnvvk lvevlddpne dhlymvfelv nqgpvmevpt lkplsedqar fyfqdlikgi
      301 eylhyqkiih rdikpsnllv gedghikiad fgvsnefkgs dallsntvgt pafmapesls
      361 etrkifsgka ldvwamgvtl ycfvfgqcpf mderimclhs kiksqalefp dqpdiaedlk
      421 dlitrmldkn pesrivvpei kilvktmirk rsfgnpfegs rreerslsap gnlltkqgse
      481 dnlqgtdppp vgeeevll
//
LOCUS       XP_054228333             444 aa            linear   PRI 20-MAR-2023
DEFINITION  POU domain, class 6, transcription factor 1 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054228333
VERSION     XP_054228333.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372358.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..444
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..444
                     /product="POU domain, class 6, transcription factor 1
                     isoform X5"
                     /calculated_mol_wt=43707
     CDS             1..444
                     /gene="POU6F1"
                     /gene_synonym="BRN5; MPOU; TCFB1"
                     /coded_by="XM_054372358.1:3802..5136"
                     /db_xref="GeneID:5463"
                     /db_xref="HGNC:HGNC:9224"
                     /db_xref="MIM:618043"
ORIGIN      
        1 mdpgagsets ltvneqvivm sghetirvle vgvdaqlpae eeskglegva aegsqsgdpa
       61 easqaageag pdnlgssaea tvksppgipp spapaiatfs qapsqpqasq tltplavqaa
      121 pqvltqenla tvltgvmvpa gavtqpllip isiagqvagq qglavwtipt atvaalpglt
      181 aasptggvfk pplaglqaaa vlntalpapv qaaapvqass taqprppaqp qtlfqtqpll
      241 qttpailpqp taataaaptp kpvdtppqit vqpagfafsp giisaaslgg qtqilgsltt
      301 apvitsaips mpgissqilt naqgqvigtl pwvvnsasva apapaqslqv qavtpqllln
      361 aqgqviatla ssplpppvav rkpstpespa ksevqpiqpt ptvpqpavvi aspapaakps
      421 asapipitcs etptvsqlvs ssrs
//
LOCUS       XP_054228446             798 aa            linear   PRI 20-MAR-2023
DEFINITION  vezatin isoform X1 [Homo sapiens].
ACCESSION   XP_054228446
VERSION     XP_054228446.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372471.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..798
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..798
                     /product="vezatin isoform X1"
                     /calculated_mol_wt=90634
     CDS             1..798
                     /gene="VEZT"
                     /gene_synonym="VEZATIN"
                     /coded_by="XM_054372471.1:45..2441"
                     /db_xref="GeneID:55591"
                     /db_xref="HGNC:HGNC:18258"
                     /db_xref="MIM:619749"
ORIGIN      
        1 mtpefdeevv fevrpvgrtc rsedggksar ensplyqylq dlghtdfeic sslspktekc
       61 ttegqqkppt rvlpkqgill kvaetikswi ffsqcnkkdd llhkldigfr ldslhtilqq
      121 evllqedvel ielldpsils agqsqqqeng hlptlcslat pniwdlsmlf afisllvmlp
      181 twwivsswlv wgvilfvylv iralrlwrta klqvtlkkys vhledmatns raftnlvrka
      241 lrliqetevi srgftlvsaa cpfnkagqhp sqhliglrka vyrtlranfq aarlatlyml
      301 knyplnsesd nvtnyicvvp fkelglglse eqiseeeahn ftdgfslpal kvlfqlwvaq
      361 sseffrrlal llstansppg plltpallph rilsdvtqgl phahsaclee lkrsyefyry
      421 fetqhqsvpq clsktqqksr elnnvhtavr slqlhlkall neviiledel eklvctketq
      481 elvseaypil eqklkliqph vqasnncwee aisqvdkllr rntdkkgkpe iacenphctv
      541 vplkqptlhi adkdpipeeq eleayvddid idsdfrkddf yylsqedker qkreheeskr
      601 vlqelksvlg fkaseaerqk wkqllfsdha vlkslspvdp vepisnseps mnsdmgkvsk
      661 ndteeesnks attdneisrt eylcensleg knkdnssnev fpqgaeermc yqcesedepq
      721 adgsglttap ptprdslqps ikqrlarlql spdftftagl aaevaarsls fttmqeqtfg
      781 deeeeqiiee nkneieek
//
LOCUS       XP_054229231            1911 aa            linear   PRI 20-MAR-2023
DEFINITION  A disintegrin and metalloproteinase with thrombospondin motifs 20
            isoform X1 [Homo sapiens].
ACCESSION   XP_054229231
VERSION     XP_054229231.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373256.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1911
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1911
                     /product="A disintegrin and metalloproteinase with
                     thrombospondin motifs 20 isoform X1"
                     /calculated_mol_wt=214720
     CDS             1..1911
                     /gene="ADAMTS20"
                     /gene_synonym="ADAM-TS20; ADAMTS-20; GON-1"
                     /coded_by="XM_054373256.1:342..6077"
                     /db_xref="GeneID:80070"
                     /db_xref="HGNC:HGNC:17178"
                     /db_xref="MIM:611681"
ORIGIN      
        1 mwvakwltgl lyhlslfitr swevdfhprq ealvrtltsy evvipervne fgevfpqshh
       61 fsrqkrssea lepmpfrthy rftaygqlfq lnltadasfl aagytevhlg tpergawesd
      121 agpsdlrhcf yrgqvnsqed ykavvslcgg ltgtfkgqng eyflepimka dgneyedghn
      181 kphliyrqdl nnsflqtlky csvsesqike tslpfhtysn mnedlnvmke rvlghtsknv
      241 plkderrhsr kkrlisypry ieimvtadak vvsahgsnlq nyiltlmsiv atiykdpsig
      301 nlihivvvkl vmihreeegp vinfdgattl knfcswqqtq ndlddvhpsh hdtavlitre
      361 dicsskekcn mlglsylgti cdplqscfin eekglisaft iahelghtlg vqhddnprck
      421 emkvtkyhvm apalsfhmsp wswsncsrky vtefldtgyg eclldkpdee iynlpselpg
      481 srydgnkqce lafgpgsqmc phienicmhl wctsteklhk gcftqhvppa dgtdcgpgmh
      541 crhglcvnke tetrpvngew gpwepysscs rtcgggiesa trrcnrpepr nggnycvgrr
      601 mkfrscntds cpkgtqdfre kqcsdfngkh ldisgipsnv rwlprysgig tkdrcklycq
      661 vagtnyfyll kdmvedgtpc gtethdicvq gqcmaagcdh vlnssakidk cgvcggdnss
      721 cktitgvfns shygynvvvk ipagatnvdi rqysysgqpd dsylalsdae gnflfngnfl
      781 lstskkeinv qgtrtvieys gsnnaverin stnrqekeli lqvlcvgnly npdvhysfni
      841 pleersdmft wdpygpwegc tkmcqglqrr nitcihksdh svvsdkecdh lplpsfvtqs
      901 cntdcelrwh vigksecssq cgqgyrtldi hcmkysiheg qtvqvddhyc gdqlkpptqe
      961 lchgncvftr whysewsqcs rscgggersr esycmnnfgh rladnecqel srvtrencne
     1021 fscpswaase wseclvtcgk gtkqrqvwcq lnvdhlsdgf cnsstkpesl spcelhtcas
     1081 wqvgpwgpct ttcghgyqmr dvkcvnelas avledteche asrpsdrqsc vltpcsfisk
     1141 letallptvl ikkmaqwrhg swtpcsvscg rgtqaryvsc rdaldriade sycahlprpa
     1201 eiwdcftpcg ewqagdwspc sascghgktt rqvlcmnyhq pidenycdpe vrplmeqecs
     1261 laacppahsh fpsspvqpsy ylstnlpltq klednenqvv hpsvrgnqwr tgpwgscsss
     1321 csgglqhrav vcqdengqsa sycdaaskpp elqqcgpgpc pqwnygnwge csqtcgggik
     1381 srlvicqfpn gqiledhnce ivnkppsviq chmhacpadv swhqepwtsc sascgkgrky
     1441 revfcidqfq rkledtncsq vqkppthkac rsvrcpswka nswnecsvtc gsgvqqrdvy
     1501 crlkgvgqvv eemcdqstrp csqrrcwsqd cvqhkgmerg rlncstscer kdshqrmect
     1561 dnqirqvnei vynsstislt skncrnppcn yivvtadssq canncgfsyr qritycteip
     1621 stkkhklhrl rpivyqecpv vpssqvyqci nsclhlatwk vgkwskcsvt cgigimkrqv
     1681 kcitkhglss dlclnhlkpg aqkkcyandc ksfttckeiq vknhirkdgd yylnikgrii
     1741 kiycadmyle npkeyltlvq geenfsevyg frlknpyqcp fngsrredce cdnghlaagy
     1801 tvfskiridl tsmqikttdl lfsktifgna vpfatagdcy safrcpqgqf sinlsgtgmk
     1861 isstakwltq gsytsvsirr sedgtrffgk cggycgkclp hmttglpiqv i
//
LOCUS       XP_054229743            1064 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin-protein ligase E3B isoform X2 [Homo sapiens].
ACCESSION   XP_054229743
VERSION     XP_054229743.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373768.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1064
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1064
                     /product="ubiquitin-protein ligase E3B isoform X2"
                     /calculated_mol_wt=121921
     CDS             1..1064
                     /gene="UBE3B"
                     /gene_synonym="BPIDS; KOS"
                     /coded_by="XM_054373768.1:259..3453"
                     /db_xref="GeneID:89910"
                     /db_xref="HGNC:HGNC:13478"
                     /db_xref="MIM:608047"
ORIGIN      
        1 mftlsqtsra wfidrarqar eerlvqkere raavviqahv rsflcrsrlq rdirreiddf
       61 fkaddpestk rsalcifkia rkllflfrik ednerfeklc rsilssmdae nepkvwyvsl
      121 acskdltllw iqqiknilwy ccdflkqlkp eilqdsrlit lyltmlvtft dtstwkilrg
      181 kgeslrpamn hicanimghl nqhgfysvlq illtrglarp rpclskgtlt aafslalrpv
      241 iaaqfsdnli rpflihimsv palvthlstv tperltvles hdmlrkfiif lrdqdrcrdv
      301 ceslegchtl clmgnllhlg slsprvleee tdgfvslltq tlcycqkyvs qkksnlthwh
      361 pvlgwfsqsv dyglnesmhl itkqlqflwg vpliriffcd ilskkllesq epahaqpasp
      421 qnvlpvksll krafqksasv rnilrpvggk rvdsaevqkv cnicvlyqts lttltqirlq
      481 iltgltyldd llpklwafic elgphgglkl fleclnndte eskqllamlm lfcdcsrhli
      541 tilddievye eqisfkleel vtissflnsf vfkmiwdgiv enakgetlel fqsvhgwlmv
      601 lyerdcrrrf tpedhwlrkd lkpsvlfqel drdrkraqli lqyiphviph knrvllfrtm
      661 vtkekeklgl vetssasphv thitirrsrm ledgyeqlrq lsqhamkgvi rvkfvndlgv
      721 deagidqdgv fkefleeiik rvfdpalnlf kttsgderly psptsyihen ylqlfefvgk
      781 mlgkavyegi vvdvpfasff lsqllghhhs vfyssvdelp sldsefyknl tsikrydgdi
      841 tdlgltlsyd edvmgqlvch elipggktip vtnenkisyi hlmahfrmht qiknqtaali
      901 sgfrsiikpe wirmfstpel qrlisgdnae idledlkkht vyyggfhgsh rviiwlwdil
      961 asdftpdera mflkfvtscs rppllgfayl kppfsircve vsddqqgrql drsepseegp
     1021 tvltagepas pretahglsp lsaapfsflp qgrvpgvgvg tccf
//
LOCUS       XP_054230121             423 aa            linear   PRI 20-MAR-2023
DEFINITION  L-dopachrome tautomerase isoform X2 [Homo sapiens].
ACCESSION   XP_054230121
VERSION     XP_054230121.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374146.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..423
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..423
                     /product="L-dopachrome tautomerase isoform X2"
                     /calculated_mol_wt=47819
     CDS             1..423
                     /gene="DCT"
                     /gene_synonym="OCA8; TRP-2; TYRP2"
                     /coded_by="XM_054374146.1:428..1699"
                     /db_xref="GeneID:1638"
                     /db_xref="HGNC:HGNC:2709"
                     /db_xref="MIM:191275"
ORIGIN      
        1 msplwwgfll sclgckilpg aqgqfprvcm tvdslvnkec cprlgaesan vcgsqqgrgq
       61 ctevradtrp wsgpyilrnq ddrelwprkf fhrtckctgn fagyncgdck fgwtgpncer
      121 kkppvirqni hslspqereq flgaldlakk rvhpdyvitt qhwlgllgpn gtqpqfancs
      181 vydffvwlhy ysvrdtllgp grpyraidfs hqgpafvtwh ryhllclerd lqrlignesf
      241 alpywnfatg rnecdvctdq lfgaarpddp tlisrnsrfs swetvcdsld dynhlvtlcn
      301 gtyegllrrn qmgrnsmklp tlkdirdcls lqkfdnppff qnstfsfrna legfdkadgt
      361 ldsqvmslhn lvhsflngtn alphsaandp ifvkresdqg tpfpacagnh epgrlysgss
      421 fly
//
LOCUS       XP_054230982             824 aa            linear   PRI 20-MAR-2023
DEFINITION  intraflagellar transport protein 88 homolog isoform X1 [Homo
            sapiens].
ACCESSION   XP_054230982
VERSION     XP_054230982.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375007.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..824
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..824
                     /product="intraflagellar transport protein 88 homolog
                     isoform X1"
                     /calculated_mol_wt=93088
     CDS             1..824
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /coded_by="XM_054375007.1:117..2591"
                     /db_xref="GeneID:8100"
                     /db_xref="HGNC:HGNC:20606"
                     /db_xref="MIM:600595"
ORIGIN      
        1 mmqnvhlape tdeddlysgy ndynpiydie elendaafqq avrtshgrrp pitakissta
       61 vtrpiatgyg sktslassig rpmtgaiqdg vtrpmtavra agftkaalrg safdplsqsr
      121 gpaspleakk kdspeekikq lekevnelve escianscgd lklalekakd agrkervlvr
      181 qreqvttpen inldltysvl fnlasqysvn emyaealnty qvivknkmfs nagilkmnmg
      241 niylkqrnys kaikfyrmal dqvpsvnkqm rikimqnigv tfiqagqysd ainsyehims
      301 mapnlkagyn lticyfaigd rekmkkafqk litvpleide dkyispsddp htnlvteaik
      361 ndhlrqmere rkamaekyim tsakliapvi etsfaagydw cvevvkasqy velandlein
      421 kavtylrqkd ynqaveilkv lekkdnrvks aaatnlsaly ymgkdfaqas syadiavnsd
      481 rynpaaltnk gntvfangdy ekaaefykea lrndssctea lynigltyek lnrldealdc
      541 flklhailrn saevlyqian iyelmenpsq aiewlmqvvs viptdpqvls klgelydreg
      601 dksqafqyyy esyryfpcni eviewlgayy idtqfwekai qyferasliq ptqvkwqlmv
      661 ascfrrsgny qkaldtykdt hrkfpenvec lrflvrlctd lglkdaqeya rklkrlekmk
      721 eireqriksg rdgsggsrgk regsasgdsg qnysasskge rlsarlralp gtnepyesss
      781 nkeidasyvd plgpqierpk taakkrided dfadeelgdd llpe
//
LOCUS       XP_054231347             622 aa            linear   PRI 20-MAR-2023
DEFINITION  FERM domain-containing protein 6 isoform X1 [Homo sapiens].
ACCESSION   XP_054231347
VERSION     XP_054231347.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375372.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..622
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..622
                     /product="FERM domain-containing protein 6 isoform X1"
                     /calculated_mol_wt=71913
     CDS             1..622
                     /gene="FRMD6"
                     /gene_synonym="C14orf31; c14_5320; EX1; Willin"
                     /coded_by="XM_054375372.1:379..2247"
                     /db_xref="GeneID:122786"
                     /db_xref="HGNC:HGNC:19839"
                     /db_xref="MIM:614555"
ORIGIN      
        1 mnklnfhnnr vmqdrrsvci flpndeslni iinvkilchq llvqvcdllr lkdchlfgls
       61 viqnnehvym elsqklykyc pkewkkeask vrqyevtwgi dqfgppmiih frvqyyveng
      121 rlisdraary yyywhlrkqv lhsqcvlree ayfllaafal qadlgnfkrn khygkyfepe
      181 ayfpswvvsk rgkdyilkhi pnmhkdqfal taseahlkyi keavrlddva vhyyrlykdk
      241 reieasltlg ltmrgiqifq nldeekqlly dfpwtnvgkl vfvgkkfeil pdglpsarkl
      301 iyytgcpmrs rhllqllsns hrlymnlqpv lrhirkleen eekkqyresy isdnldldmd
      361 qlekrsrasg ssagsmkhkr lsrhstashs sshtsgiead tkprdtgped sysssaihrk
      421 lktcssmtsh gsshtsgves ggkdrleedl qddeiemlvd dprdleqmne eslevspdmc
      481 iyitedmlms rklnghsgli vkeigsstss ssetvvklrg qstdslpqti crkpktstdr
      541 hslslddirl yqkdflriag lcqdtaqsyt fgcgheldee glycnsclaq qciniqdafp
      601 vkrtskyfsl dlthdevpef vv
//
LOCUS       XP_054231502            1945 aa            linear   PRI 20-MAR-2023
DEFINITION  echinoderm microtubule-associated protein-like 5 isoform X12 [Homo
            sapiens].
ACCESSION   XP_054231502
VERSION     XP_054231502.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375527.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1945
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1945
                     /product="echinoderm microtubule-associated protein-like 5
                     isoform X12"
                     /calculated_mol_wt=216471
     CDS             1..1945
                     /gene="EML5"
                     /gene_synonym="EMAP-2; EMAP-5; FAP16"
                     /coded_by="XM_054375527.1:543..6380"
                     /db_xref="GeneID:161436"
                     /db_xref="HGNC:HGNC:18197"
                     /db_xref="MIM:618119"
ORIGIN      
        1 mctpegnlsl alhpervlva tgqvgkepyi ciwdsytvqt isvlkdvhth giaclafdld
       61 gqrlvsvgld sknavcvwdw krgkmlsmap ghtdrifdis wdlyqpnklv scgvkhikfw
      121 slcgnaltpk rgvfgktgdl qtilclacar deltysgaln gdiyvwkgin lirtiqgaha
      181 agifsmnace egfatggrdg cirlwdltfk pitvidlret dqgykglsvr svcwrgdhil
      241 vgtqdseife ivvqernkpf limqghcege lwalavhptk plavtgsddr svriwslvdh
      301 aliarcnmee pircaavnad gihlalgmkd gsftvlrvrd mtevvhikdr keaihelkys
      361 pdgtylavgc ndssvdiygv aqrykkvgec lgslsfithl dwssdsrylq tndgngkrlf
      421 yrmpggkevt steeikgvhw aswtcvsgle vngiwpkysd indinsvdgn yigqvlvtad
      481 dygiiklfry pclrkgakfr kyighsahvt nvrwshdyqw visiggadhs vfqwkfiper
      541 klkdavhiap qesladshsd esdsdlsdvp eldseieqet qltyrrqvyk edlpqlkeqc
      601 kekqksatsk rrerapgnsi rlhfvhgyrg ydcrsnlfyt qigeivyhva avgviynrqq
      661 ntqrfylghd ddilcltihp lkdyvatgqv grdpsihiwd tetikplsil kghhqygvsa
      721 vdfsadgkrl asvgiddsht vvlwdwkkge klsiargskd kifvvkmnpy vpdklitagi
      781 khmkfwrkag ggligrkgyi gtlgkndtmm cavygwteem afsgtstgdv ciwrdiflvk
      841 tvkahdgpvf smhalekgfv tggkdgival wddsferclk tyaikraala pgskgllled
      901 npsiraislg hghilvgtkn geilevdksg pitllvqghm egevwglath pylpicatvs
      961 ddktlriwdl spshcmlavr klkkggrccc fspdgkalav glndgsflma nadtledlvs
     1021 fhhrkdmisd irfspgsgky lavashdsfi diynvmsskr vgickgatsy ithidwdirg
     1081 kllqvntgak eqlffeaprg kkqtipsvev ekiawaswts vlglccegiw pvigevtdvt
     1141 ascltsdkmv latgddlgfv klfryptkgk fgkfkryvah sthvtnvrwt yddsmlvtlg
     1201 gtdmslmvwt nemegyrekr pcdseesdid seedggydsd vtreneisyt iralstnirp
     1261 mlgikphlqq kepsiderqg vvrgsrppvs rappqpeklq tnnvgkkkrp iedlvlelif
     1321 gyrgrdcrnn vhylndgddi iyhtasvgil hnvatgsqsf yqehnddilc ltvnqhpkfi
     1381 nivatgqvgd sadmsataps ihiwdamnkq tlsilrcyhs kgvcsvsfsa tgklllsvgl
     1441 dpehtitiwr wqegakiasr aghnqrifva efrpdsdtqf vsvgvkhvkf wtlagralls
     1501 kkgllstled armqtmlaia fgannltftg tisgdvcvwk dhilcrivar ahngpvfamy
     1561 ttlrdglivt ggkerpskeg gavklwdqel rrcrafrlet gqatdcvrsv crgkgkilvg
     1621 trnaeiievg eknaacnilv nghvdgpiwg lathpsrdff lsaaedgtvr lwdiadkkml
     1681 nkvnlghaar tvcyspegdm vaigmkngef iillvsslki wgkkrdrrca ihdirfspds
     1741 rylavgssen svdfydltlg ptlnrisyck dipsfviqmd fsadssylqv ssgcykrhvy
     1801 evpsgkhlmd haaidritwa twtsilgdev lgiwsrhaek advncacvsh sgislvtgdd
     1861 fgmvklfdfp cpekfvslcf vyyyqftpnf dvlssalfpi ylkcfvlisk ffpklsksiy
     1921 feikairnks spssntifgt ilqkl
//
LOCUS       XP_054232794             147 aa            linear   PRI 20-MAR-2023
DEFINITION  ras-related protein Rab-2B isoform X2 [Homo sapiens].
ACCESSION   XP_054232794
VERSION     XP_054232794.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376819.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 11% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..147
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..147
                     /product="ras-related protein Rab-2B isoform X2"
                     /calculated_mol_wt=16174
     CDS             1..147
                     /gene="RAB2B"
                     /coded_by="XM_054376819.1:149..592"
                     /db_xref="GeneID:84932"
                     /db_xref="HGNC:HGNC:20246"
                     /db_xref="MIM:607466"
ORIGIN      
        1 mgterliwga agallvydit rretfnhlts wledarqhss snmvimlign ksdlesrrdv
       61 kreegeafar ehglifmets aktacnveea fintakeiyr kiqqglfdvh neangikigp
      121 qqsistsvgp sasqrnsrdi gsnsgcc
//
LOCUS       XP_054232893            1199 aa            linear   PRI 20-MAR-2023
DEFINITION  papilin isoform X6 [Homo sapiens].
ACCESSION   XP_054232893
VERSION     XP_054232893.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376918.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1199
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1199
                     /product="papilin isoform X6"
                     /calculated_mol_wt=128962
     CDS             1..1199
                     /gene="PAPLN"
                     /gene_synonym="PPN"
                     /coded_by="XM_054376918.1:94..3693"
                     /db_xref="GeneID:89932"
                     /db_xref="HGNC:HGNC:19262"
                     /db_xref="MIM:617785"
ORIGIN      
        1 mrllllvpll lapapgssap kvrrqsdtwg pwsqwspcsr tcgggvsfre rpcysqrrdg
       61 gsscvgpars hrscrtescp dgardfraeq caefdgaefq grryrwlpyy sapnkcelnc
      121 ipkgenfyyk hreavvdgtp cepgkrdvcv dgscrvvgcd heldsskqed kclrcggdgt
      181 tcypvagtfd andlsrgynq ilivpmgats ilideaaasr nflavknvrg eyylnghwti
      241 eaaralpaas tilhyergae gdlaperlha rgptseplvi elisqepnpg vhyeyhlplr
      301 rpspgfswsh gswsdcsaec ggghqsrlvf ctidheaypd hmcqrqprpa drrscnlhpc
      361 petkrwkagp wapcsascgg gsqsrsvyci ssdgagiqea veeaecaglp gkppaiqacn
      421 lqrcaawspe pwgecsvscg vgvrkrsvtc rgergsllht aacsledrpp ltepcvhedc
      481 pllsdqawhv gtwglcsksc ssgtrrrqvi caigppshcg slqhskpvdv epcntqpchl
      541 pqevpsmqdv htpasnpwmp lgpqespasd srgqwwaaqe hpsargdhrg ergdprgdqg
      601 thlsalgpap slqqppyqqp lrsgsgphdc rhsphgccpd ghtaslgpqw qgcpgapcqq
      661 srygccpdrv svaegphhag ctksyggdst ggrprsrava stvhnthqpq aqqnepsecr
      721 gsqfgccydn vataagplge gcvgqpshay pvrcllpsah gscadwaarw yfvasvgqcn
      781 rfwyggchgn annfaseqec msscqgslhg prrpqpgasg rsthtdgggs spageqepsq
      841 hrtgaavqrk pwpsgglwrq dqqpgpgeap htqafgewpw gqelgsrapg lggdagspap
      901 pfhsssyris lagvepslvq aalgqlvrls csddtapesq aawqkdgqpi ssdrhrlqfd
      961 gsliihplqa edagtyscgs trpgrdsqki qlriiggdma vlseaelsrf pqprdpaqdf
     1021 gqagaagplg aipsshpqpa nrlrldqnqp rvvdaspgqr irmtcraegf pppaiewqrd
     1081 gqpvssprng lpvqadghrv hqspdgtlli ynlrardegs ytcsayqgsq avsrstevkv
     1141 vspaptaqpr dpgrdcvdqp elancdlilq aqlcgneyys sfccascsrf qphaqpiwq
//
LOCUS       XP_054232996             148 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 20 isoform X26 [Homo sapiens].
ACCESSION   XP_054232996
VERSION     XP_054232996.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377021.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..148
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..148
                     /product="WD repeat-containing protein 20 isoform X26"
                     /calculated_mol_wt=16439
     CDS             1..148
                     /gene="WDR20"
                     /gene_synonym="Bun107; DMR"
                     /coded_by="XM_054377021.1:28..474"
                     /db_xref="GeneID:91833"
                     /db_xref="HGNC:HGNC:19667"
                     /db_xref="MIM:617741"
ORIGIN      
        1 mategggkem neiktqfttr eglykllphs eysrpnrvpf nsqgsnpvrv sfvnlndqsg
       61 ngdrlcfnvg relyfyiykg vrkaadlskp idkriykgtq ptchdfnhlt ataesvsllv
      121 gfsagqvqli dpikketskl fneemass
//
LOCUS       XP_054233654             458 aa            linear   PRI 20-MAR-2023
DEFINITION  N-acetylgalactosamine kinase isoform X2 [Homo sapiens].
ACCESSION   XP_054233654
VERSION     XP_054233654.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377679.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..458
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..458
                     /product="N-acetylgalactosamine kinase isoform X2"
                     /calculated_mol_wt=50488
     CDS             1..458
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /coded_by="XM_054377679.1:77..1453"
                     /db_xref="GeneID:2585"
                     /db_xref="HGNC:HGNC:4119"
                     /db_xref="MIM:137028"
ORIGIN      
        1 matespatrr vqvaehprll klkemfnskf gsipkfyvra pgrvniigeh idycgysvlp
       61 maveqdvlia vepvktyalq lantnplypd fstsanniqi dktkplwhny flcglkgiqe
      121 hfglsnltgm nclvdgnipp ssglssssal vccaglvtlt vlgrnlskve laeicakser
      181 yigtegggmd qsisflaeeg takliefspl ratdvklpsg avfvianscv emnkaatshf
      241 nirvmecrla akllakyksl qwdkvlrlee vqaklgisle emllvtedal hpepynpeei
      301 crclgislee lrtqilspnt qdvlifklyq rakhvyseaa rvlqfkkice eapenmvqll
      361 gelmnqshms crdmyecscp eldqlvdicr kfgaqgsrlt gagwggctvs mvpadklpsf
      421 lanvhkayyq rsdgslapek qslfatkpga seryennt
//
LOCUS       XP_054169589             793 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleotide-binding oligomerization domain-containing protein 2
            isoform X4 [Homo sapiens].
ACCESSION   XP_054169589
VERSION     XP_054169589.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313614.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..793
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..793
                     /product="nucleotide-binding oligomerization
                     domain-containing protein 2 isoform X4"
                     /calculated_mol_wt=88318
     CDS             1..793
                     /gene="NOD2"
                     /gene_synonym="ACUG; BLAU; BLAUS; CARD15; CD; CLR16.3;
                     IBD1; NLRC2; NOD2B; PSORAS1; YAOS"
                     /coded_by="XM_054313614.1:66..2447"
                     /db_xref="GeneID:64127"
                     /db_xref="HGNC:HGNC:5331"
                     /db_xref="MIM:605956"
ORIGIN      
        1 mcsqeafqaq rsqlvellvs gslegfesvl dwllswevls wedyegfhll gqplshlarr
       61 lldtvwnkgt wacqkliaaa qeaqadsqsp klhgcwdphs lhpardlqsh rpaivrrlhs
      121 hvenmldlaw ergfvsqyec deirlpiftp sqrarrlldl atvkanglaa fllqhvqelp
      181 vplalpleaa tckkymaklr ttvsaqsrfl stydgaetlc lediytenvl evwadvgmag
      241 ppqkspatlg leelfstpgh lnddadtvlv vgeagsgkst llqrlhllwa agqdfqeflf
      301 vfpfscrqlq cmakplsvrt llfehccwpd vgqedifqll ldhpdrvllt fdgfdefkfr
      361 ftdrerhcsp tdptsvqtll fnllqgnllk narkvvtsrp aavsaflrky irtefnlkgf
      421 seqgielylr krhhepgvad rlirllqets alhglchlpv fswmvskchq elllqeggsp
      481 ktttdmylli lqhfllhatp pdsasqglgp sllrgrlptl lhlgrlalwg lgmccyvfsa
      541 qqlqaaqvsp ddislgflvr akgvvpgsta pleflhitfq cffaafylal sadvppallr
      601 hlfncgrpgn spmarllptm ciqasegkds svaallqkae phnlqitaaf lagllsrehw
      661 gllaecqtse kallrrqaca rwclarslrk hfhsippaap geaksvhamp gfiwlirsly
      721 emqeerlark aarglnvghl kltfcsvgpt ecaalafvlq hlrrpvalql dynsvgdigv
      781 eqllpclgvc kal
//
LOCUS       XP_054169965             681 aa            linear   PRI 20-MAR-2023
DEFINITION  activating transcription factor 7-interacting protein 2 isoform X1
            [Homo sapiens].
ACCESSION   XP_054169965
VERSION     XP_054169965.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313990.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..681
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..681
                     /product="activating transcription factor 7-interacting
                     protein 2 isoform X1"
                     /calculated_mol_wt=75532
     CDS             1..681
                     /gene="ATF7IP2"
                     /gene_synonym="MCAF2"
                     /coded_by="XM_054313990.1:17559..19604"
                     /db_xref="GeneID:80063"
                     /db_xref="HGNC:HGNC:20397"
                     /db_xref="MIM:613645"
ORIGIN      
        1 maspdrskrk ilkakktmpl scrkqvemln ksrnvealkt aigsnvpsgn qsfspsvitr
       61 teitkcspse ngassldsnk nsisekskvf sqncikpvee ivhsetkleq vvcsyqkpsr
      121 ttespsrvft eeakdslnts endsehqtnv trslfehega cslkssccpp svlsgvvqmp
      181 estvtstvgd kktdqmvfhl etnsnseshd krqsdnilcs edsgfvpvek tpnlvnsvts
      241 nncaddilkt decsrtsisn cesadstwqs sldtnnnshy qkkrmfsene envkrmktse
      301 qinenicvsl erqtafleqv rhliqqeiys inyelfdkkl kelnqrigkt ecrnkhegia
      361 dkllakiakl qrriktvllf qrnclkpnml ssngaskvan seamildknl esvnspieks
      421 svnyepsnps ekgskkinls sdqnksvses nnddvmlisv espnlttpit snptdtrkit
      481 sgnssnspna evmavqkkld siidltkegl sncntespvs pleshskaas nskettplaq
      541 navqvpesfe hlpplpeppa plpelvdktr dtlppqkpel kvkrvfrpng ialtwnitki
      601 npkcapvesy hlflchensn nkliwkkige ikalplpmac tlsqflasnr yyftvqskdi
      661 fgrygpfcdi ksipgfsenl t
//
LOCUS       XP_054171488             461 aa            linear   PRI 20-MAR-2023
DEFINITION  arylsulfatase G isoform X7 [Homo sapiens].
ACCESSION   XP_054171488
VERSION     XP_054171488.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315513.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..461
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..461
                     /product="arylsulfatase G isoform X7"
                     /calculated_mol_wt=50070
     CDS             1..461
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /coded_by="XM_054315513.1:809..2194"
                     /db_xref="GeneID:22901"
                     /db_xref="HGNC:HGNC:24102"
                     /db_xref="MIM:610008"
ORIGIN      
        1 mgwlflkvll agvsfsgfly plvdfcisgk trgqkpnfvi iladdmgwgd lganwaetkd
       61 tanldkmase gmrfvdfhaa astcspsras lltgrlglrn gvtrnfavts vgglplnett
      121 laevlqqagy vtgiigkwhl ghhgsyhpnf rgfdyyfgip yshdmgctdt pgynhppcpa
      181 cpqgdgpsrn lqrdcytdva lplyenlniv eqpvnlssla qkyaekatqf iqrastsgrp
      241 fllyvalahm hvplpvtqlp aaprgrslyg aglwemdslv gqikdkvdht vkentflwft
      301 gdngpwaqkc elagsvgpft gfwqtrqggs pakqttwegg hrvpalaywp grvpvnvtst
      361 allsvldifp tvvalaqasl pqgrrfdgvd vsevlfgrsq pghrvlfhpn sgaagefgal
      421 qtvrleryka fyitagkevp alnsrtngii sgiqrkshds k
//
LOCUS       XP_054172010             235 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing protein 75A isoform X5 [Homo
            sapiens].
ACCESSION   XP_054172010
VERSION     XP_054172010.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316035.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..235
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..235
                     /product="leucine-rich repeat-containing protein 75A
                     isoform X5"
                     /calculated_mol_wt=26299
     CDS             1..235
                     /gene="LRRC75A"
                     /gene_synonym="C17orf76; FAM211A"
                     /coded_by="XM_054316035.1:204..911"
                     /db_xref="GeneID:388341"
                     /db_xref="HGNC:HGNC:32403"
ORIGIN      
        1 mgtrqtkgsl aeraspgaap gprrerpdfw aslllragdk agragagmpp yhrrvgmvqe
       61 llrmvrqgrr eeagtllqhl rqdlgmests lddvlyryas frnlvdpith dliislaryi
      121 hcpkpegdal gameklcrql tyhlsphsqw rrhrglvkrk pqawslqage gravplphge
      181 ertlvppsvl dppptpthnq emdpgeahsq vdeqssrlsw peapqttqwt cresh
//
LOCUS       XP_054173394            1217 aa            linear   PRI 20-MAR-2023
DEFINITION  SRC kinase signaling inhibitor 1 isoform X5 [Homo sapiens].
ACCESSION   XP_054173394
VERSION     XP_054173394.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317419.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1217
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1217
                     /product="SRC kinase signaling inhibitor 1 isoform X5"
                     /calculated_mol_wt=131036
     CDS             1..1217
                     /gene="SRCIN1"
                     /gene_synonym="P140; SNIP"
                     /coded_by="XM_054317419.1:182..3835"
                     /db_xref="GeneID:80725"
                     /db_xref="HGNC:HGNC:29506"
                     /db_xref="MIM:610786"
ORIGIN      
        1 mqpwqclrrf alawwertae grarspreea gprdpggrge pdperssppm lsaddaeypr
       61 eyrtlggggg ggsggrrfsn vglvhtserr htviaaqsle alsglqkada drkrdafmdh
      121 lkskypqhal alrgqqdrmr eqpnywsfkt rssrhtqgaq pgladqaakl syasaeslet
      181 mseaelplgf srmnrfrqsl plsrsasqtk lrspgvlflq fgeetrrvhi thevssldtl
      241 haliahmfpq kltmgmlksp ntailikdea rnvfyeledv rdiqdrsiik iyrkeplyaa
      301 fpgshltngd lrremvyasr essptrrlnn lspaphlasg spppglpsgl psglqsgsps
      361 rsrlsyaggr ppsyagspvh haaerlggap aaqgvspsps ailerrdvkp dedlaskagg
      421 mvlvkgegly adpygllheg rlslaaaagd pfaypgaggl ykrgsvrsls tysaaalqsd
      481 ledslykaag gggplygdgy gfrlppsspq kladvaappg gpppphspys gppsrgspvr
      541 qsfrkdsgss svfaespggk trsagsasta gappselfpg pgerslvgfg ppvpakdtet
      601 rermeamekq iasltglvqs allrgsepet psekiegsng aatpsapcgs ggrssgatpv
      661 sgppppsass tpagqptavs rlqmqlhlrg lqnsasdlrg qlqqlrklql qnqesvrall
      721 krteaelsmr vseaarrqed plqrqrtlve eerlrylnde elitqqlndl eksvekiqrd
      781 vshnhrlvpg peleekalvl kqlgetltel kahfpglqsk mrvvlrveve avkflkeepq
      841 rldgllkrcr gvtdtlaqir rqvdegvwpp pnnllsqspk kvtaetdfnk svdfemppps
      901 pplnlhelsg paegasltpk ggnptkgldt pgkrsvdkav sveaaerdwe ekraaltqys
      961 akdinrllee tqaellkaip dldcaskahp gpaptpdhkp pkaphgqkaa prtepsgrrg
     1021 sdeltvpryr tekpsksppp ppprrsfpss hgltttrtge vvvtskkdsa fikkaeseel
     1081 evqkpqvklr ravsevarpa stppimasai kdeddedrii aelesgggsv ppmkvvtpga
     1141 srlkaaqgqa gspdkskhgk qraeymriqa qqqatkpske msgsnetssp vsekpsasrt
     1201 sipvltsfga rnssisf
//
LOCUS       XP_054174048            1001 aa            linear   PRI 20-MAR-2023
DEFINITION  small G protein signaling modulator 2 isoform X12 [Homo sapiens].
ACCESSION   XP_054174048
VERSION     XP_054174048.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318073.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1001
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1001
                     /product="small G protein signaling modulator 2 isoform
                     X12"
                     /calculated_mol_wt=112451
     CDS             1..1001
                     /gene="SGSM2"
                     /gene_synonym="RUTBC1"
                     /coded_by="XM_054318073.1:189..3194"
                     /db_xref="GeneID:9905"
                     /db_xref="HGNC:HGNC:29026"
                     /db_xref="MIM:611418"
ORIGIN      
        1 mgsaedavke kllwnvkkev kqimeeavtr kfvhedsshi ialcgaveac llhqlrrraa
       61 gflrsdkmaa lftkvgktcp vageichkvq elqqqaegrk psgvsqealr rqgsasgkap
      121 alspqalkhv wvrtaliekv ldkvvqylae ncskyyekea lladpvfgpi lasllvgpca
      181 leytklktad hywtdpsade lvqrhrirgp ptrqdspakr palgirkrhs sgsasedkla
      241 acarecvesl hqnsrtrlly gknhvlvqpk edmeavpgyl slhqsaeslt lkwtpnqlmn
      301 gtlgdselek svywdyalvv pfsqvvcihc hqqksggtlv lvsqdgiqrp plhfpqgghl
      361 lsflscleng llpqgqlepp lwtqqgkgkv fpklrkrssi rsvdmeemgt gratdyvfri
      421 iypghrhehn agdmiemqgf gpslpawhle plcsqgsscl scssssspha tpshcscipd
      481 rlplrllces mkrqivsraf ygwlahcrhl stvrthlsal vhhsvippdr ppgasagltk
      541 dvwskyqkdk knykelellr qvyyggiehe irkdvwpfll ghykfgmskk emeqvdavva
      601 aryqqvlaew kacevvvrqr ereahpatrt kfssgssids hvqrlihrds tisndvfisv
      661 ddleppepqd pedsrpkpeq eagpgtpgta vveqqhsvef dspdsglpss rnysvasgiq
      721 ssldegqsvg feeedgggee gssgpgpaah tlrepqdpsq ekpqagelea geelaavcaa
      781 aytielldtv alnlhridkd vqrcdrnywy ftppnlerlr dvmcsyvweh ldvgyvqgmc
      841 dllapllvtl dndqlayscf shlmkrmsqn fpnggamdth fanmrsliqi ldselfelmh
      901 qngdythfyf cyrwflldfk rellyedvfa vweviwaarh issehfvlfi alalveayre
      961 iirdnnmdft diikffnera ehhdaqeilr iardlvhkvl p
//
LOCUS       XP_054176360             584 aa            linear   PRI 20-MAR-2023
DEFINITION  MAU2 chromatid cohesion factor homolog isoform X3 [Homo sapiens].
ACCESSION   XP_054176360
VERSION     XP_054176360.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320385.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..584
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..584
                     /product="MAU2 chromatid cohesion factor homolog isoform
                     X3"
                     /calculated_mol_wt=65554
     CDS             1..584
                     /gene="MAU2"
                     /gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
                     /coded_by="XM_054320385.1:32..1786"
                     /db_xref="GeneID:23383"
                     /db_xref="HGNC:HGNC:29140"
                     /db_xref="MIM:614560"
ORIGIN      
        1 maaqaaaaaq aaaaqaaqae aadswylall gfaehfrtss ppkirlcvhc lqavfpfkpp
       61 qriearthlq lgsvlyhhtk nseqarshle kansvdaakp llrkaiqisq qtpywhcrll
      121 fqlaqlhtle kdlvsacdll gvgaeyarvv gseytralfl lskgmlllme rklqevhpll
      181 tlcgqivenw qgnpiqkesl rvfflvlqvt hyldagqvks vkpclkqlqq ciqtistlhd
      241 deilpsnpad lfhwlpkehm cvlvylvtvm hsmqagylek aqkytdkalm qleklkmldc
      301 spilssfqvi llehiimcrl vtghkatalq eisqvcqlcq qsprlfsnha aqlhtllgly
      361 cvsvncmdna eaqfttalrl tnhqelwafi vtnlasvyir egnrhqelys llerinpdhs
      421 fpvsshclra aafyvrglfs ffqgryneak rflretlkms naedlnrlta cslvllghif
      481 yvlgnhresn nmvvpamqla skipdmsvql wssallrdln kacgnamdah eaaqmhqnfs
      541 qqllqdhiea cslpehnlit wtdgpppvqf qaqngpntsl asll
//
LOCUS       XP_054176373             227 aa            linear   PRI 20-MAR-2023
DEFINITION  persulfide dioxygenase ETHE1, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_054176373
VERSION     XP_054176373.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320398.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..227
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..227
                     /product="persulfide dioxygenase ETHE1, mitochondrial
                     isoform X1"
                     /calculated_mol_wt=24825
     CDS             1..227
                     /gene="ETHE1"
                     /gene_synonym="HSCO; YF13H12"
                     /coded_by="XM_054320398.1:320..1003"
                     /db_xref="GeneID:23474"
                     /db_xref="HGNC:HGNC:23287"
                     /db_xref="MIM:608451"
ORIGIN      
        1 mfepvsctft yllgdresre avlidpvlet aprdaqlike lglrllyavn thchadhitg
       61 sgllrsllpg cqsvisrlsg aqadlhiedg dsirfgrfal etraspghtp gcvtfvlndh
      121 smaftgdall irgcgrtdfq qgcaktlyhs vhekiftlpg dcliypahdy hgftvstvee
      181 ertlnprltl sceefvkimg nlnlpkpqqi dfavpanmrc gvqtpta
//
LOCUS       XP_054177123             212 aa            linear   PRI 20-MAR-2023
DEFINITION  17-beta-hydroxysteroid dehydrogenase 14 isoform X1 [Homo sapiens].
ACCESSION   XP_054177123
VERSION     XP_054177123.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321148.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..212
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..212
                     /product="17-beta-hydroxysteroid dehydrogenase 14 isoform
                     X1"
                     /calculated_mol_wt=22398
     CDS             1..212
                     /gene="HSD17B14"
                     /gene_synonym="DHRS10; retSDR3; SDR47C1"
                     /coded_by="XM_054321148.1:81..719"
                     /db_xref="GeneID:51171"
                     /db_xref="HGNC:HGNC:23238"
                     /db_xref="MIM:612832"
ORIGIN      
        1 matgtryagk vvvvtgggrg igagivrafv nsgarvvicd kdesggrale qelpgavfil
       61 cdvtqeddvk tlvsetirrf grldcvvnna ghhpppqrpe etsaqgfrql lelnllgtyt
      121 ltklalpylr ksqgnvinis slvgaigqaq avpyvatkga vtamtkalal despygvrvn
      181 chwaawaspl rsglrqcswp pkptsaraln cs
//
LOCUS       XP_054196811             572 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 138 isoform X14 [Homo
            sapiens].
ACCESSION   XP_054196811
VERSION     XP_054196811.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340836.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..572
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..572
                     /product="coiled-coil domain-containing protein 138
                     isoform X14"
                     /calculated_mol_wt=65195
     CDS             1..572
                     /gene="CCDC138"
                     /coded_by="XM_054340836.1:31..1749"
                     /db_xref="GeneID:165055"
                     /db_xref="HGNC:HGNC:26531"
ORIGIN      
        1 mnavpgetgt vavcygaegr qatgagfssg esqkplrtrg qlprrgdldi ysgdkvgssl
       61 kysdeskhcr tplgslfkhv nvnclddeld sfhdlkkqet eeeliendyr vstskitkqs
      121 fkeiekvalp tnttssrprt eccsdagdsp lkpvscpksk asdkrsllph qisqiydelf
      181 qihlklqcet aaqqkfaeel qkrerfller eqllfrhena lskikgveee vltrfqiike
      241 qhdaevehlt evlkeknket krlrssfdal kelndtlkkq lneaseenrk idiqakrvqa
      301 rldnlqrkye fmtiqrlkgs shavhemksl kqekapvskt ykvplngqvy elltvfmdwi
      361 sdhhlskvkh eesgmdgkkp qlkfasqrnd iqekcvkllp lmteqlqwmp fvniklhepf
      421 vkfiywslrq ldagaqhstm tstlrrlged ifkgvvtkgi qdnspqhsve nkpktaaffk
      481 ssnlplrfls tlivlktvtq adylaqafds lcldlkteeg ktlfleyqav pvilshlris
      541 skgllsnvid sllqmtvesr virsslnflr fi
//
LOCUS       XP_054197805             399 aa            linear   PRI 20-MAR-2023
DEFINITION  inositol polyphosphate 1-phosphatase isoform X1 [Homo sapiens].
ACCESSION   XP_054197805
VERSION     XP_054197805.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341830.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..399
                     /product="inositol polyphosphate 1-phosphatase isoform X1"
                     /calculated_mol_wt=43867
     CDS             1..399
                     /gene="INPP1"
                     /coded_by="XM_054341830.1:635..1834"
                     /db_xref="GeneID:3628"
                     /db_xref="HGNC:HGNC:6071"
                     /db_xref="MIM:147263"
ORIGIN      
        1 msdilrellc vsekaaniar acrqqealfq llieekkege knkkfavdfk tladvlvqev
       61 ikqnmenkfp gleknifgee sneftndwge kitlrlcste eetaellskv lngnkvasea
      121 larvvhqdva ftdptldste invpqdilgi wvdpidstyq yikgsadiks nqgifpcglq
      181 cvtiligvyd iqtgvplmgv inqpfvsrdp ntlrwkgqcy wglsymgtnm hslqltisrr
      241 ngsethtgnt gseaafspsf savistseke tikaalsrvc gdrifgaaga gykslcvvqg
      301 lvdiyifsed ttfkwdscaa hailramggg ivdlkecler npetgldlpq lvyhvenega
      361 agvdrwankg gliayrsrkr letflsllvq nlapaetht
//
LOCUS       XP_054199219             642 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA1-associated RING domain protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054199219
VERSION     XP_054199219.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343244.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..642
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..642
                     /product="BRCA1-associated RING domain protein 1 isoform
                     X3"
                     /calculated_mol_wt=70559
     CDS             1..642
                     /gene="BARD1"
                     /coded_by="XM_054343244.1:115..2043"
                     /db_xref="GeneID:580"
                     /db_xref="HGNC:HGNC:952"
                     /db_xref="MIM:601593"
ORIGIN      
        1 mpdnrqprnr qprirsgnep rsapamepdg rgawahsraa ldrlekllrc srctnilrep
       61 vclggcehif csncvsdcig tgcpvcytpa wiqdlkinrq ldsmiqlcsk lrnllhdnel
      121 sdlkedkprk slfndagnkk nsikmwfspr skkvryvvsk asvqtqpaik kdasaqqdsy
      181 efvspsppad vserakkasa rsgkkqkkkt laeinqkwnl eaekedgefd skeeskqklv
      241 sfcsqpsvis spqingeidl lasgsltese cfgsltevsl plaeqiespd tksrnevvtp
      301 ekvcknylts kkslplenng krghhnrlss piskrcrtsi lstsgdfvkq tvpseniplp
      361 ecssppsckr kvggtsgrkn snmsdefisl spgtppstls sssyrrvmss psamkllpnm
      421 avkrnhrget llhiasikgd ipsveyllqn gsdpnvkdha gwtplheacn hghlkvvell
      481 lqhkalvntt gyqndsplhd aaknghvdiv klllsygasr navnifglrp vdytddesmk
      541 sllllpekne sssashcsvm ntgqrrdgpl vligsglsse qqkmlselav ilkakkytef
      601 dstvthvvvp gdavqstlkc mlgilngcwi lkfecwtavv qs
//
LOCUS       XP_054200542             319 aa            linear   PRI 20-MAR-2023
DEFINITION  G-protein coupled receptor 55 isoform X1 [Homo sapiens].
ACCESSION   XP_054200542
VERSION     XP_054200542.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344567.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..319
                     /product="G-protein coupled receptor 55 isoform X1"
                     /calculated_mol_wt=36507
     CDS             1..319
                     /gene="GPR55"
                     /gene_synonym="LPIR1"
                     /coded_by="XM_054344567.1:490..1449"
                     /db_xref="GeneID:9290"
                     /db_xref="HGNC:HGNC:4511"
                     /db_xref="MIM:604107"
ORIGIN      
        1 msqqntsgdc lfdgvnelmk tlqfavhipt fvlglllnll aihgfstflk nrwpdyaats
       61 iyminlavfd lllvlslpfk mvlsqvqspf pslctlvecl yfvsmygsvf ticfismdrf
      121 lairypllvs hlrsprkifg icctiwvlvw tgsipiysfh gkvekymcfh nmsddtwsak
      181 vffplevfgf llpmgimgfc csrsihillg rrdhtqdwvq qkaciysiaa slavfvvsfl
      241 pvhlgfflqf lvrnsfivec rakqsisffl qlsmcfsnvn ccldvfcyyf vikefrmnir
      301 ahrpsrvqlv lqdttisrg
//
LOCUS       XP_054179391             513 aa            linear   PRI 20-MAR-2023
DEFINITION  potassium voltage-gated channel subfamily G member 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_054179391
VERSION     XP_054179391.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323416.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..513
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..513
                     /product="potassium voltage-gated channel subfamily G
                     member 1 isoform X1"
                     /calculated_mol_wt=57782
     CDS             1..513
                     /gene="KCNG1"
                     /gene_synonym="K13; KCNG; kH2; KV6.1"
                     /coded_by="XM_054323416.1:444..1985"
                     /db_xref="GeneID:3755"
                     /db_xref="HGNC:HGNC:6248"
                     /db_xref="MIM:603788"
ORIGIN      
        1 mtllpgdnsd ydysalscts dasfhpaflp qrqaikgafy rraqrlrpqd eprqgcqped
       61 rrrriiinvg gikyslpwtt ldefpltrlg qlkactnfdd ilnvcddydv tcnefffdrn
      121 pgafgtiltf lragklrllr emcalsfqee llywgiaedh ldgcckrryl qkieefaemv
      181 ereeeddald segrdsegpa egegrlgrcm rrlrdmverp hsglpgkvfa clsvlfvtvt
      241 avnlsvstlp slreeeeqgh csqmchnvfi vesvcvgwfs lefllrliqa pskfaflrsp
      301 ltlidlvail pyyitllvdg aaagrrkpga gnsyldkvgl vlrvlralri lyvmrlarhs
      361 lglqtlglta rrctrefgll llflcvaial fapllyvien emadspefts ipacywwavi
      421 tmttvgygdm vprstpgqvv alssilsgil lmafpvtsif htfsrsylel kqeqervmfr
      481 raqfliktks qlsvsqdsdi lfgsassdtr dnn
//
LOCUS       XP_054179581             439 aa            linear   PRI 20-MAR-2023
DEFINITION  double zinc ribbon and ankyrin repeat-containing protein 1 isoform
            X15 [Homo sapiens].
ACCESSION   XP_054179581
VERSION     XP_054179581.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323606.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..439
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..439
                     /product="double zinc ribbon and ankyrin repeat-containing
                     protein 1 isoform X15"
                     /calculated_mol_wt=47748
     CDS             1..439
                     /gene="DZANK1"
                     /gene_synonym="ANKRD64; C20orf12; C20orf84"
                     /coded_by="XM_054323606.1:4406..5725"
                     /db_xref="GeneID:55184"
                     /db_xref="HGNC:HGNC:15858"
ORIGIN      
        1 mcsgdkappp ptqkggtisc yrcgrwnlwe asfcgwcgam lgipagcsvc pkcgasnhls
       61 arfcgscgic vkslvklsld rslalaaeep rpfseprcaw qslniplprs dvgtkrdigt
      121 qtvglfypsg kllakkeqel asqkqrqekm sdhkplltai spgrgywrrq ldhisahlrc
      181 yaqnnpefra liaeprmgkl isatvhedgc evsirlnysq vsnknlylnk avnfsdhlls
      241 saaegdgglc gsrsswvsdy sqstsdtiek ikriknfktk tfqekkeqli penrlllkev
      301 gptgegrvsv ieqlldegad pnccdednrp vitvavmnkh heaipvlvqr gadidqqwgp
      361 lrntalheat llglagrest atllgcnasi qkknaggqta ydlalntgdd lvtslfaakf
      421 gqgledqlaq trslslddc
//
LOCUS       XP_054202769             286 aa            linear   PRI 20-MAR-2023
DEFINITION  MTRF1L release factor glutamine methyltransferase isoform X5 [Homo
            sapiens].
ACCESSION   XP_054202769
VERSION     XP_054202769.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346794.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..286
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..286
                     /product="MTRF1L release factor glutamine
                     methyltransferase isoform X5"
                     /calculated_mol_wt=31779
     CDS             1..286
                     /gene="HEMK1"
                     /gene_synonym="HEMK; MPRMC; MTQ1"
                     /coded_by="XM_054346794.1:228..1088"
                     /db_xref="GeneID:51409"
                     /db_xref="HGNC:HGNC:24923"
                     /db_xref="MIM:618609"
ORIGIN      
        1 melwgrmlwa llsgpgrrgs trgwafsswq pqpplaglss aielvshwtg vfekrgipea
       61 resseyivah vlgaktfqsl rpalwtqplt sqqlqcirel ssrrlqrmpv qyilgewdfq
      121 glslrmvppv fiprpeteel vewvleevaq rshavgspgs plilevgcgs gaislsllsq
      181 lpqsrviavd kreaaislth enaqsyedpa aldggeegmd iithilalap rllkdsgsif
      241 levdprhpel vsswlqsrpd lylnlvavrr dfcgrprflh irrsgp
//
LOCUS       XP_054203252             233 aa            linear   PRI 20-MAR-2023
DEFINITION  protein O-glucosyltransferase 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054203252
VERSION     XP_054203252.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347277.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..233
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..233
                     /product="protein O-glucosyltransferase 1 isoform X1"
                     /calculated_mol_wt=27397
     CDS             1..233
                     /gene="POGLUT1"
                     /gene_synonym="C3orf9; CLP46; hCLP46; KDELCL1; KTELC1;
                     LGMD2Z; LGMDR21; MDS010; MDSRP; Rumi"
                     /coded_by="XM_054347277.1:1364..2065"
                     /db_xref="GeneID:56983"
                     /db_xref="HGNC:HGNC:22954"
                     /db_xref="MIM:615618"
ORIGIN      
        1 mypawtfweg gpavwpiypt glgrwdlfre dlvrsaaqwp wkkknstayf rgsrtsperd
       61 plillsrknp klvdaeytkn qawksmkdtl gkpaakdvhl vdhckykylf nfrgvaasfr
      121 fkhlflcgsl vfhvgdewle ffypqlkpwv hyipvktdls nvqellqfvk anddvaqeia
      181 ergsqfirnh lqmdditcyw enllseyskf lsynvtrrkg ydqiipkmlk tel
//
LOCUS       XP_054205371            1235 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 1 isoform X7 [Homo sapiens].
ACCESSION   XP_054205371
VERSION     XP_054205371.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349396.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1235
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1235
                     /product="TBC1 domain family member 1 isoform X7"
                     /calculated_mol_wt=139929
     CDS             1..1235
                     /gene="TBC1D1"
                     /gene_synonym="TBC; TBC1"
                     /coded_by="XM_054349396.1:359..4066"
                     /db_xref="GeneID:23216"
                     /db_xref="HGNC:HGNC:11578"
                     /db_xref="MIM:609850"
ORIGIN      
        1 mepitftark hllsnevsvd fglqlvgslp vhslttmpml pwvvaevrrl srqstrkepv
       61 tkqvrlcvsp sglrcepepg rsqqwdpliy ssifeckpqr vhklihnshd psyfaclike
      121 davhrqsicy vfkaddqtkv peiissirqa gkiarqeelh cpsefddtfs kkfevlfcgr
      181 vtvahkkapp alideciekf nhvsgsrgse sprpnpphaa ptgsqepvrr pmrksfsqpg
      241 lrslafrkel qdgglrssgf fssfeesdie nhlisghniv qptdieenrt mlftigqsev
      301 ylispdtkki aleknfkeis fcsqgirhvd hfgficress ggggfhfvcy vfqctnealv
      361 deimmtlkqa ftvaavqqta kapaqlcegc plqslhklce riegmnsskt klelqkhltt
      421 ltnqeqatif eevqklrprn eqreneliis flrclyeekq kehihigemk qtsqmaaeni
      481 gselppsatr frldmlknka krsltesles ilsrgnkarg lqehsisvdl dsslsstlsn
      541 tskepsvcek ealpisessf kllgssedls sdseshlpee paplspqqaf rrrantlshf
      601 piecqeppqp argspgvsqr klmryhsvst etphernvdp spvgeskhrp gqssapappp
      661 rlnpsasspn ffkylkhnss geqsgnavpk rdfeskanhl gdsggtpvkt rrhswrqqif
      721 lrvatpqkac dsssryeeph cgspslacte dyselgelpp rsplepvced gpfgpppeek
      781 krtsrelrel wqkailqqil llrmekenqk lqasendlln krlkldyeei tpclkevttv
      841 wekmlstpgr skikfdmekm hsavgqgvpr hhrgeiwkfl aeqfhlkhqf pskqqpkdvp
      901 ykellkqlts qqhailidlg rtfpthpyfs aqlgagqlsl ynilkaysll dqevgycqgl
      961 sfvagilllh mseeeafkml kflmfdmglr kqyrpdmiil qiqmyqlsrl lhdyhrdlyn
     1021 hleeheigps lyaapwfltm fasqfplgfv arvfdmiflq gtevifkval sllgshkpli
     1081 lqhenletiv dfikstlpnl glvqmektin qvfemdiakq lqayeveyhv lqeelidssp
     1141 lsdnqrmdkl ektnsslrkq nldlleqlqv angriqslea tiekllsses klkqamltle
     1201 lersallqtv eelrrrsaep sdrepectqp eptgd
//
LOCUS       XP_054206185            1043 aa            linear   PRI 20-MAR-2023
DEFINITION  SH3 domain and tetratricopeptide repeat-containing protein 1
            isoform X7 [Homo sapiens].
ACCESSION   XP_054206185
VERSION     XP_054206185.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350210.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1043
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1043
                     /product="SH3 domain and tetratricopeptide
                     repeat-containing protein 1 isoform X7"
                     /calculated_mol_wt=114938
     CDS             1..1043
                     /gene="SH3TC1"
                     /coded_by="XM_054350210.1:128..3259"
                     /db_xref="GeneID:54436"
                     /db_xref="HGNC:HGNC:26009"
ORIGIN      
        1 mggpvmpgnp lmavglasal adfqgsgpee mtfrggdlie ilgaqvpslp wcvgrhaasg
       61 rvgfvrssli smqgpvsele saiflneeek sffsegcfse edarqllrrm sgtdvcsvys
      121 ldsveeaete qpqekeippp clspepqetl qkvknvleqc ktcpgcpqep aswglcaass
      181 dvslqdpeep sfcleaeddw edpealssll lflnapgyka sfrglydval pwlssvfrsf
      241 sdeeeltgrl aqargaakka gllmalarlc fllgrlcsrr lklsqarvyf eealgalegs
      301 fgdlflvvav yanlasiyrk qknrekcaqv vpkamalllg tpdhicstea egellqlalr
      361 ravggqslqa earacfllar hhvhlkqpee alpflerlll lhrdsgapea awlsdcylll
      421 adiysrkclp hlvlscvkva slrtrgslag slrsvnlvlq napqphslpa qtshylrqal
      481 asltpgtgqa lrgplytsla qlyshhgchg paitfmtqav easaiagvra ivdhlvalaw
      541 lhvlhgqspv aldilqsvrd avvasedqeg vianmvaval krtgrtrqaa esyyralrva
      601 rdlgqqrnqa vglanfgalc lhagasrlaq hylleavrlf srlplgecgr dfthvllqlg
      661 hlctrqgpaq qgkgyyewal lvavemghve sqlravqrlc hfysavmpse aqcviyhelq
      721 lslackvadk vlegqlleti sqlylslgte rayksaldyt krslgifidl qkkekeahaw
      781 lqagkiyyil rqselvdlyi qvaqnvalyt gdpnlglelf eaagdiffdg awerekavsf
      841 yrdralplav ttgnrkaelr lcnklvalla tleepqegle fahmalalsi tlgdrlnerv
      901 ayhrlaalqh rlghgelaeh fylkalslcn splefdeetl yyvkvylvlg diifydlkdp
      961 fdaagyyqla laaavdlgnk kaqlkiytrl atiyhnflld rekslffyqk artfatelnv
     1021 rrvnlpplpl cgwapwlaps hpr
//
LOCUS       XP_054208069             621 aa            linear   PRI 20-MAR-2023
DEFINITION  actin-binding LIM protein 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054208069
VERSION     XP_054208069.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352094.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..621
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..621
                     /product="actin-binding LIM protein 3 isoform X2"
                     /calculated_mol_wt=70576
     CDS             1..621
                     /gene="ABLIM3"
                     /gene_synonym="HMFN1661"
                     /coded_by="XM_054352094.1:250..2115"
                     /db_xref="GeneID:22885"
                     /db_xref="HGNC:HGNC:29132"
                     /db_xref="MIM:611305"
ORIGIN      
        1 mntsipyqqn pynprgssnv iqcyrcgdtc kgevvrvhnn hfhircftcq vcgcglaqsg
       61 fffknqeyic tqdyqqlygt rcdscrdfit gevisalgrt yhpkcfvcsl crkpfpigdk
      121 vtfsgkecvc qtcsqsmass kpikirgpsh cagckeeikh gqsllaldkq whvscfkcqt
      181 csviltgeyi skdgvpyces dyhaqfgikc etcdryisgr vleaggkhyh ptcarcvrch
      241 qmftegeemy ltgsevwhpi ckqaaraekk lkhrrtsets isppgssigs pnrvicdiye
      301 nldlrqrras spgyidspty srqgmsptfs rsphhyyrsg pesgrsspyh sqldvrsstp
      361 tsyqapkhfh ipagdsniyr kppiykrhgd lstatkskts edisqtskys piyspdpyya
      421 seseywtyhg spkvprarrf ssggeeddfd rsmhklqsgi grlilkeemk arsssyadpw
      481 tpprsstssr ealhtagyem slngsprshy ladsdplisk saslpayrrn glhrtpsadl
      541 fhydsmnavn wgmreykiyp yelllvttrg rnrlpkdvdr trlerhlsqe efyqvfgmti
      601 sefdrlalwk rnelkkqarl f
//
LOCUS       XP_054208426             598 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF180 isoform X1 [Homo sapiens].
ACCESSION   XP_054208426
VERSION     XP_054208426.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352451.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..598
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..598
                     /product="E3 ubiquitin-protein ligase RNF180 isoform X1"
                     /calculated_mol_wt=68861
     CDS             1..598
                     /gene="RNF180"
                     /gene_synonym="RINES"
                     /coded_by="XM_054352451.1:71..1867"
                     /db_xref="GeneID:285671"
                     /db_xref="HGNC:HGNC:27752"
                     /db_xref="MIM:616015"
ORIGIN      
        1 mkrskelitk nhsqeetsil rcwkcrkcia ssgcfmeyle nqvikdkdds vdaqnichvw
       61 hmnvealpew iscliqkaqw tvgklncpfc garlggfnfv stpkcscgql aavhlsksrt
      121 dyqptqagrl mrpsvkylsh prvqsgcdke alltgggsen rnhrllnmar nnndpgrlte
      181 alclevrpty femkneklls kasepkyqlf vpqlvtgrca trafhrkshs ldlniseklt
      241 llptlyeihs kttaysrlne tqpidlsglp lqssknsysf qnpssfdpsm llqrfsvaph
      301 etqtqrggef qcgleaasvy sdhtntnnlt flmdlpsagr smpeasdqee hlspldflhs
      361 anfslgsinq rlnkrerskl knlrrkqrrr erwlqkqgky sgvglldhmf syvlqtlnne
      421 mstdedneya eekdsyicav cldvyfnpym cypchhifce pclrtlakdn psstpcplcr
      481 tiisrvffqt elnnatktff tkeylkikqs fqksnsakwp lpscrkafhl fggfrrhaap
      541 vtrrqfphga hrmdylhfed dsrgwwfdmd mviiyiysvn wvigfivfcf lcyfffpf
//
LOCUS       XP_054209789             238 aa            linear   PRI 20-MAR-2023
DEFINITION  CCR4-NOT transcription complex subunit 8 isoform X2 [Homo sapiens].
ACCESSION   XP_054209789
VERSION     XP_054209789.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353814.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..238
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..238
                     /product="CCR4-NOT transcription complex subunit 8 isoform
                     X2"
                     /calculated_mol_wt=27284
     CDS             1..238
                     /gene="CNOT8"
                     /gene_synonym="CAF1; Caf1b; CALIF; hCAF1; POP2"
                     /coded_by="XM_054353814.1:430..1146"
                     /db_xref="GeneID:9337"
                     /db_xref="HGNC:HGNC:9207"
                     /db_xref="MIM:603731"
ORIGIN      
        1 mpaalvensq vicevwasnl eeemrkirei vlsysyiamd tefpgvvvrp igefrssidy
       61 qyqllrcnvd llkiiqlglt ftnekgeyps gintwqfnfk fnltgydfgy mvklltdsrl
      121 peeeheffhi lnlffpsiyd vkylmksckn lkgglqevad qldlqrigrq hqagsdsllt
      181 gmaffrmkel ffedsiddak ycgrlyglgt gvaqkqnedv dsaqekmsil aiinnmqq
//
LOCUS       XP_054211371             808 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 85 kDa-like isoform X1 [Homo sapiens].
ACCESSION   XP_054211371
VERSION     XP_054211371.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355396.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..808
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..808
                     /product="centrosomal protein of 85 kDa-like isoform X1"
                     /calculated_mol_wt=92345
     CDS             1..808
                     /gene="CEP85L"
                     /gene_synonym="bA57K17.2; C6orf204; LIS10; NY-BR-15"
                     /coded_by="XM_054355396.1:181..2607"
                     /db_xref="GeneID:387119"
                     /db_xref="HGNC:HGNC:21638"
                     /db_xref="MIM:618865"
ORIGIN      
        1 miwrnnwkst tgrlnvklqs dklqhgcgpd yssawlpane slwqattvps nhrnnhirrh
       61 siasdsgdtg igtscsdsve dhstssgtls fkpsqslitl ptahvmpsns sasisklres
      121 ltpdgskwst slmqtlgnhg rgeqdssldm kdfrplrkws slskltapdn cgqggtvcre
      181 esrnglekig kakaltsqlr tigpsclhds memlrledke inkkrsstld ckykfescsk
      241 edfrassstl rrqtvdmtys alpeskpimt sseafeppky lmlgqqavgg vpiqpsvrtq
      301 mwlteqlrtn plegrnteds yslapwqqqq iedfrqgset pmqvltgssr qsyspgyqdf
      361 skwesmlkik egllrqkeiv idrqkqqith lherirdnel raqhamlghy vncedsyvas
      421 lqpqyentsl qtpfseesvs hsqqgefeqk lastekevlq lneflkqrls lfseekkkle
      481 eklktrdryi sslkkkcqke seqnkekqrr ietlekylad lptlddvqsq slqlqileek
      541 nknlqealid tekkleeikk qcqdketqli cqkkkekelv ttvqslqqkv ercledgirl
      601 pmldakqlqn endnlrqqne taskiidsqq deidrmilei qsmqgklske klttqkmmee
      661 lekkernvqr ltkallenqr qtdetcslld qgqepdqsrq qtvlskrplf dltvidqlfk
      721 emscclfdlk alcsilnqra qgkepnlsll lgirsmncsa eetendhste tltkklsdvc
      781 qlrrdidelr ttisdryaqd mgdncitq
//
LOCUS       XP_054213461             746 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase EZH2 isoform X4 [Homo sapiens].
ACCESSION   XP_054213461
VERSION     XP_054213461.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357486.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..746
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..746
                     /product="histone-lysine N-methyltransferase EZH2 isoform
                     X4"
                     /calculated_mol_wt=85232
     CDS             1..746
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /coded_by="XM_054357486.1:117..2357"
                     /db_xref="GeneID:2146"
                     /db_xref="HGNC:HGNC:3527"
                     /db_xref="MIM:601573"
ORIGIN      
        1 mgqtgkksek gpvcwrkrvk seymrlrqlk rfrradevks mfssnrqkil erteilnqew
       61 kqrriqpvhi ltsvsslrgt recsvtsdld fptqviplkt lnavasvpim yswsplqqnf
      121 mvedetvlhn ipymgdevld qdgtfieeli knydgkvhgd recgfindei fvelvnalgq
      181 yndddddddg ddpeereekq kdledhrddk esrpprkfps dkifeaissm fpdkgtaeel
      241 kekykelteq qlpgalppec tpnidgpnak svqreqslhs fhtlfcrrcf kydcflhpfh
      301 atpntykrkn tetaldnkpc gpqcyqhleg akefaaalta eriktppkrp ggrrrgrlpn
      361 nssrpstpti nvleskdtds dreagtetgg enndkeeeek kdetssssea nsrcqtpikm
      421 kpnieppenv ewsgaeasmf rvligtyydn fcaiarligt ktcrqvyefr vkessiiapa
      481 paedvdtppr kkkrkhrlwa ahcrkiqlkk dgssnhvyny qpcdhprqpc dsscpcviaq
      541 nfcekfcqcs secqnrfpgc rckaqcntkq cpcylavrec dpdlcltcga adhwdsknvs
      601 ckncsiqrgs kkhlllapsd vagwgifikd pvqknefise ycgeiisqde adrrgkvydk
      661 ymcsflfnln ndfvvdatrk gnkirfanhs vnpncyakvm mvngdhrigi fakraiqtge
      721 elffdyrysq adalkyvgie remeip
//
LOCUS       XP_054213562             662 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein regulatory complex subunit 6 isoform X15 [Homo sapiens].
ACCESSION   XP_054213562
VERSION     XP_054213562.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357587.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..662
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..662
                     /product="dynein regulatory complex subunit 6 isoform X15"
                     /calculated_mol_wt=75022
     CDS             1..662
                     /gene="FBXL13"
                     /gene_synonym="CFAP169; DRC6; Fbl13"
                     /coded_by="XM_054357587.1:77..2065"
                     /db_xref="GeneID:222235"
                     /db_xref="HGNC:HGNC:21658"
                     /db_xref="MIM:609080"
ORIGIN      
        1 mllriqqiiy chkltiiltk wrntarhksk kkedelilkh elqlkkwknr lilkraaaee
       61 snfperssse vflvdetlkc disllperai lqiffylslk dviicgqvnh awmlmtqlns
      121 lwnaidfssv knvipdkyiv stlqrwrlnv lrlnfrgcll rpktfrsvsh crnlqelnvs
      181 dcptftdesm rhisegcpgv lclnlsntti tnrtmrllpr hfhnlqnlsl aycrrftdkg
      241 lqylnlgngc hkliyldlsg ctqisvqgfr yiansctgim hltindmptl tdncvkalve
      301 kcsritslvf tgaphisdct fralsacklr kirfegnkrv tdasfkfidk nypnlshiym
      361 adckgitdss lrslsplkql tvlnlancvr igdmglkqfl dgpasmrire lnlsncvrls
      421 dasvmklser cpnlnylslr ncehltaqgi gyivnifslv sidlsgtdis neglnvlsrh
      481 kklkelsvse cyritddgiq afcksslile hldvsycsql sdmiikalai ycinltslsi
      541 agcpkitdsa memlsakchy lhildisgcv lltdqiledl qigckqlril kmqyctnisk
      601 kaaqrmsskv qqqeyntndp prwfgydreg npvteldnit sskgaleltv kkstyssedq
      661 aa
//
LOCUS       XP_054213690             857 aa            linear   PRI 20-MAR-2023
DEFINITION  transportin-3 isoform X1 [Homo sapiens].
ACCESSION   XP_054213690
VERSION     XP_054213690.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357715.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..857
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..857
                     /product="transportin-3 isoform X1"
                     /calculated_mol_wt=96539
     CDS             1..857
                     /gene="TNPO3"
                     /gene_synonym="IPO12; LGMD1F; LGMDD2; MTR10A; TRN-SR;
                     TRN-SR2; TRNSR"
                     /coded_by="XM_054357715.1:6365..8938"
                     /db_xref="GeneID:23534"
                     /db_xref="HGNC:HGNC:17103"
                     /db_xref="MIM:610032"
ORIGIN      
        1 mkmkiqtsfy elptdshasl rdsllthiqn lkdlspvivt qlalaiadla lqmpswkgcv
       61 qtlvekysnd vtslpfllei ltvlpeevhs rslriganrr teiiedlafy sstvvsllmt
      121 cvekagtdek mlmkvfrclg swfnlgvlds nfmannklla llfevlqqdk tssnlheaas
      181 dcvcsalyai envetnlpla mqlfqgvltl etayhmavar edldkvlnyc riftelcetf
      241 lekivctpgq glgdlrtlel llicaghpqy evveisfnfw yrlgehlykt ndevihgifk
      301 ayiqrllhal arhcqlepdh egvpeetddf gefrmrvsdl vkdlifligs mecfaqlyst
      361 lkegnppwev teavlfimaa iaksvdpenn ptlvevlegv vrlpetvhta vrytsielvg
      421 emsevvdrnp qfldpvlgyl mkglcekpla saaakaihni csvcrdhmaq hfnglleiar
      481 sldsfllspe aavgllkgta lvlarlpldk iteclselcs vqvmalkkll sqepsngiss
      541 dptvfldrla vifrhtnpiv engqthpcqk viqeiwpvls etlnkhradn riverccrcl
      601 rfavrcvgkg saallqplvt qmvnvyhvhq hscflylgsi lvdeygmeeg crqglldmlq
      661 alciptfqll eqqnglqnhp dtvddlfrla trfiqrspvt llrsqvvipi lqwaiasttl
      721 dhrdancsvm rflrdlihtg vandheedfe lrkeligqvm nqlgqqlvsq llhtccfclp
      781 pytlpdvaev lweimqvdrp tfcrwlensl kglpkettvg avtvthkqlt dfhkqvtsae
      841 eckqvcwalr dftrlfr
//
LOCUS       XP_054215179            1327 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 42 isoform X1 [Homo sapiens].
ACCESSION   XP_054215179
VERSION     XP_054215179.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359204.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1327
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1327
                     /product="ubiquitin carboxyl-terminal hydrolase 42 isoform
                     X1"
                     /calculated_mol_wt=145360
     CDS             1..1327
                     /gene="USP42"
                     /coded_by="XM_054359204.1:652..4635"
                     /db_xref="GeneID:84132"
                     /db_xref="HGNC:HGNC:20068"
ORIGIN      
        1 mtivdkases sdpsayqnqp gsseavspgd mdagsaswga vsslndvsnh tlslgpvpga
       61 vvyssssvpd kskpspqkdq algdgiappq kvlfpsekic lkwqqthrvg aglqnlgntc
      121 fanaalqclt ytpplanyml shehsktcha egfcmmctmq ahitqalsnp gdvikpmfvi
      181 nemrriarhf rfgnqedahe flqytvdamq kaclngsnkl drhtqattlv cqifggylrs
      241 rvkclnckgv sdtfdpyldi tleikaaqsv nkaleqfvkp eqldgensyk cskckkmvpa
      301 skrftihrss nvltlslkrf anftggkiak dvkypeyldi rpymsqpnge pivyvlyavl
      361 vhtgfnchag hyfcyikasn glwyqmndsi vstsdirsvl sqqayvlfyi rshdvkngge
      421 lthpthspgq ssprpvisqr vvtnkqaapg figpqlpshm iknpphlngt gplkdtpsss
      481 msspngnssv nraspvnasa svqnwsvnrs svipehpkkq kitisihnkl pvrqcqsqpn
      541 lhsnslenpt kpvpsstitn savqstsnas tmsvsskvtk piprsescsq pvmngkskln
      601 ssvlvpygae ssedsdeesk glgkengigt ivsshspgqe aedeeatphe lqepmtlnga
      661 nsadsdsdpk englapdgas cqgqpalhse npfakanglp gklmpaplls lpedkiletf
      721 rlsnklkgst demsapgaer gppedrdaep qpgspaaesl eepdaaagls stkkappprd
      781 pgtpatkega weamavapee pppsagediv gdtappdlcd pgsltgdasp lsqdakgmia
      841 egprdsalae apeglspapp arseepceqp llvhpsgdha rdaqdpsqsl gapeaaerpp
      901 apvldmapag hpegdaepsp gervedaaap kapgpspake kigslrkvdr ghyrsrrers
      961 ssgeparesr skteghrhrr rrtcprerdr qdrhapehhp ghgdrlspge rrslgrcshh
     1021 hsrhrsgvel dwvrhhyteg ergwgrekfy pdrprwdrcr yyhdryalya ardwkpfhgg
     1081 reheraglhe rphkdhnrgr rgceparere rhrpssprag aphalaphpd rfshdrtalv
     1141 agdncnlsdr fhehengksr krrhdsvens dshvekkarr seqkdpleep kakkhkkskk
     1201 kkkskdkhrd rdsrhqqdsd lsaacsdadl hrhkkkkkkk krhsrksedf vkdselhlpr
     1261 vtsletvaqf rraqggfpls ggpplegvgp frektkhlrm esrddrcrlf eygqdstrst
     1321 eaipspa
//
LOCUS       XP_054220139            1828 aa            linear   PRI 20-MAR-2023
DEFINITION  ADAMTS-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054220139
VERSION     XP_054220139.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364164.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1828
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1828
                     /product="ADAMTS-like protein 1 isoform X1"
                     /calculated_mol_wt=200316
     CDS             1..1828
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /coded_by="XM_054364164.1:117..5603"
                     /db_xref="GeneID:92949"
                     /db_xref="HGNC:HGNC:14632"
                     /db_xref="MIM:609198"
ORIGIN      
        1 mcadagpgli sssgfdflls gfdpslmsdq lslvhhgykv pslapcmvcg dqsqgavflr
       61 eftlirresl hedflsdlln shktedsssr tarseedrdg lwdawgpwse csrtcgggas
      121 yslrrclssk scegrniryr tcsnvdcppe agdfraqqcs ahndvkhhgq fyewlpvsnd
      181 pdnpcslkcq akgttlvvel apkvldgtrc ytesldmcis glcqivgcdh qlgstvkedn
      241 cgvcngdgst crlvrgqyks qlsatksddt vvaipygsrh irlvlkgpdh lyletktlqg
      301 tkgenslsst gtflvdnssv dfqkfpdkei lrmagpltad fivkirnsgs adstvqfify
      361 qpiihrwret dffpcsatcg ggyqltsaec ydlrsnrvva dqychyypen ikpkpklqec
      421 nldpcpasdg ykqimpydly hplprweatp wtacssscgg giqsravscv eediqghvts
      481 veewkcmytp kmpiaqpcni fdcpkwlaqe wspctvtcgq glryrvvlci dhrgmhtggc
      541 spktkphike ecivptpcyk pkeklpveak lpwfkqaqel eegaavseep sfipeawsac
      601 tvtcgvgtqv rivrcqvlls fsqsvadlpi decegpkpas qracyagpcs geipefnpde
      661 tdglfgglqd fdelydweye gftkcsescg ggvqeavvsc lnkqtrepae enlcvtsrrp
      721 pqllkscnld pcparweigk wspcsltcgv glqtrdvfcs hllsremnet viladelcrq
      781 pkpstvqacn rfncppawyp aqwqpcsrtc gggvqkrevl ckqrmadgsf lelpetfcsa
      841 skpacqqack kddcpsewll sdwtecstsc gegtqtrsai crkmlktgis tvvnstlcpp
      901 lpfsssirpc mlatcarpgr pstkhsphia aarkvyiqtr rqrklhfvvg gfayllpkta
      961 vvlrcparrv rkplitwekd gqhlissthv tvapfgylki hrlkpsdagv ytcsagpare
     1021 hfvikliggn rklvarplsp rseeevlagr kggpkealqt hkhqngifsn gskaekrgla
     1081 anpgsryddl vsrlleqggw pgellaswea qdsaerntts eedpgaeqvl lhlpftmvte
     1141 qrrlddilgn lsqqpeelrd lyskhlvaql aqeifrshle hqdtllkpse rrtspvtlsp
     1201 hkhvsgfsss lrtsstgdag ggsrrphrkp tilrkisaaq qlsasevvth lgqtvalasg
     1261 tlsvllhcea ighprptisw arngeevqfs drillqpdds lqilapvead vgfytcnatn
     1321 algydsvsia vtlagkplvk tsrmtvinte kpavtvdigs tiktvqgvnv tincqvagvp
     1381 eaevtwfrnk sklgsphhlh egsllltnvs ssdqglyscr aanlhgelte stqllildpp
     1441 qvptqledir allaatgpnl psvltsplgt qlvlgpgnsa llgcpikghp vpnitwfhgg
     1501 qpivtatglt hhilaagqil qvanlsggsq gefsclaqne agvlmqkasl viqdywwsvd
     1561 rlatcsascg nrgvqqprlr cllnstevnp ahcagkvrpa vqpiacnrrd cpsrwmvtsw
     1621 sactrscggg vqtrrvtcqk lkasgistpv sndmctqvak rpvdtqacnq qlcvewafss
     1681 wgqcngpcig phlavqhrqv fcqtrdgitl pseqcsalpr pvstqncwse acsvhwrvsl
     1741 wtlctatcgn ygfqsrrvec vhartnkavp ehlcswgprp anwqrcnitp cenmecrdtt
     1801 rycekvkqlk lcqlsqfksr ccgtcgka
//
LOCUS       XP_054183463             233 aa            linear   PRI 20-MAR-2023
DEFINITION  tumor necrosis factor receptor superfamily member 27 isoform X9
            [Homo sapiens].
ACCESSION   XP_054183463
VERSION     XP_054183463.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327488.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..233
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..233
                     /product="tumor necrosis factor receptor superfamily
                     member 27 isoform X9"
                     /calculated_mol_wt=25581
     CDS             1..233
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /coded_by="XM_054327488.1:80..781"
                     /db_xref="GeneID:60401"
                     /db_xref="HGNC:HGNC:17756"
                     /db_xref="MIM:300276"
ORIGIN      
        1 mdcqeneywd qwgrcvtcqr cgpgqelskd cgygeggday ctacpprryk sswghhkcqs
       61 citcavinrv qkvnctatsn avcgdclprf yrktrigglq dqecipctkq tptsevqcaf
      121 qlslveadap tvppqeatlv alvssllvvf tlaflglffl yckqffnrhc qrvaggllqf
      181 eadktakees lfpvppsket saesqvswap gslaqlfsld svpipqqqqg pem
//
LOCUS       NP_055978                710 aa            linear   PRI 21-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM9 isoform 1 [Homo sapiens].
ACCESSION   NP_055978
VERSION     NP_055978.4
DBSOURCE    REFSEQ: accession NM_015163.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 710)
  AUTHORS   Wang Z, Wang B and Wang K.
  TITLE     Targeting TRIM9 by miR-218-5p Restricts Cell Proliferation and
            Epithelial-Mesenchymal Transition in Non-Small Cell Lung Cancer
  JOURNAL   Ann Clin Lab Sci 53 (1), 106-115 (2023)
   PUBMED   36889762
  REMARK    GeneRIF: Targeting TRIM9 by miR-218-5p Restricts Cell Proliferation
            and Epithelial-Mesenchymal Transition in Non-Small Cell Lung
            Cancer.
REFERENCE   2  (residues 1 to 710)
  AUTHORS   Zhao W and Wang Q.
  TITLE     Knockdown of TRIM9 attenuates irinotecan-induced intestinal
            mucositis in IEC-6 cells by regulating DUSP6 expression via the P38
            pathway
  JOURNAL   Mol Med Rep 24 (6) (2021)
   PUBMED   34676875
  REMARK    GeneRIF: Knockdown of TRIM9 attenuates irinotecaninduced intestinal
            mucositis in IEC6 cells by regulating DUSP6 expression via the P38
            pathway.
REFERENCE   3  (residues 1 to 710)
  AUTHORS   Yang F, Liu H, Yu Y and Xu L.
  TITLE     TRIM9 overexpression promotes uterine leiomyoma cell proliferation
            and inhibits cell apoptosis via NF-kappaB signaling pathway
  JOURNAL   Life Sci 257, 118101 (2020)
   PUBMED   32679146
  REMARK    GeneRIF: TRIM9 overexpression promotes uterine leiomyoma cell
            proliferation and inhibits cell apoptosis via NF-kappaB signaling
            pathway.
REFERENCE   4  (residues 1 to 710)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 710)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 710)
  AUTHORS   Tanji K, Kamitani T, Mori F, Kakita A, Takahashi H and Wakabayashi
            K.
  TITLE     TRIM9, a novel brain-specific E3 ubiquitin ligase, is repressed in
            the brain of Parkinson's disease and dementia with Lewy bodies
  JOURNAL   Neurobiol Dis 38 (2), 210-218 (2010)
   PUBMED   20085810
  REMARK    GeneRIF: These results suggest that TRIM9 plays an important role
            in the regulation of neuronal functions and participates in
            pathological process of Lewy body disease through its ligase
            activity.
REFERENCE   7  (residues 1 to 710)
  AUTHORS   Li Y, Chin LS, Weigel C and Li L.
  TITLE     Spring, a novel RING finger protein that regulates synaptic vesicle
            exocytosis
  JOURNAL   J Biol Chem 276 (44), 40824-40833 (2001)
   PUBMED   11524423
REFERENCE   8  (residues 1 to 710)
  AUTHORS   Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L,
            Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci
            S, Pelicci PG and Ballabio A.
  TITLE     The tripartite motif family identifies cell compartments
  JOURNAL   EMBO J 20 (9), 2140-2151 (2001)
   PUBMED   11331580
REFERENCE   9  (residues 1 to 710)
  AUTHORS   Ohara O, Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N and
            Nomura N.
  TITLE     Construction and characterization of human brain cDNA libraries
            suitable for analysis of cDNA clones encoding relatively large
            proteins
  JOURNAL   DNA Res 4 (1), 53-59 (1997)
   PUBMED   9179496
REFERENCE   10 (residues 1 to 710)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL591770.3 and AL358334.3.
            On Jun 13, 2008 this sequence version replaced NP_055978.3.
            
            Summary: The protein encoded by this gene is a member of the
            tripartite motif (TRIM) family. The TRIM motif includes three
            zinc-binding domains, a RING, a B-box type 1 and a B-box type 2,
            and a coiled-coil region. The protein localizes to cytoplasmic
            bodies. Its function has not been identified. Alternate splicing of
            this gene generates two transcript variants encoding different
            isoforms. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC063872.1, D87458.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..710
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.1"
     Protein         1..710
                     /product="E3 ubiquitin-protein ligase TRIM9 isoform 1"
                     /EC_number="2.3.2.27"
                     /note="homolog of rat RING finger Spring; tripartite
                     motif-containing protein 9; E3 ubiquitin-protein ligase
                     TRIM9; RING finger protein 91; RING-type E3 ubiquitin
                     transferase TRIM9; SNAP-25-interacting RING finger
                     protein"
                     /calculated_mol_wt=79046
     Region          5..49
                     /region_name="RING-HC_TRIM9"
                     /note="RING finger, HC subclass, found in tripartite
                     motif-containing protein 9 (TRIM9) and similar proteins;
                     cd16755"
                     /db_xref="CDD:438413"
     Site            41
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8C7M3; propagated from
                     UniProtKB/Swiss-Prot (Q9C026.1)"
     Site            44
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8C7M3; propagated from
                     UniProtKB/Swiss-Prot (Q9C026.1)"
     Site            46
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8C7M3; propagated from
                     UniProtKB/Swiss-Prot (Q9C026.1)"
     Site            49
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8C7M3; propagated from
                     UniProtKB/Swiss-Prot (Q9C026.1)"
     Region          166..212
                     /region_name="Bbox1_TRIM9_C-I"
                     /note="B-box-type 1 zinc finger found in tripartite
                     motif-containing protein 9 (TRIM9) and similar proteins;
                     cd19843"
                     /db_xref="CDD:380901"
     Region          223..271
                     /region_name="Bbox2_TRIM9_C-I"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein 9 (TRIM9) and similar proteins;
                     cd19826"
                     /db_xref="CDD:380884"
     Region          273..399
                     /region_name="BBC"
                     /note="B-Box C-terminal domain; smart00502"
                     /db_xref="CDD:128778"
     Region          453..532
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(521..522,524..525)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          529..700
                     /region_name="SPRY_PRY_TRIM67_9"
                     /note="PRY/SPRY domain in tripartite motif-containing
                     proteins, TRIM9 and TRIM67; cd12889"
                     /db_xref="CDD:293947"
     CDS             1..710
                     /gene="TRIM9"
                     /gene_synonym="RNF91; SPRING"
                     /coded_by="NM_015163.6:167..2299"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9703.1"
                     /db_xref="GeneID:114088"
                     /db_xref="HGNC:HGNC:16288"
                     /db_xref="MIM:606555"
ORIGIN      
        1 meemeeelkc pvcgsfyrep iilpcshnlc qacarnilvq tpesespqsh raagsgvsdy
       61 dyldldkmsl yseadsgygs yggfasaptt pcqkspngvr vfppampppa thlspalapv
      121 prnscitcpq chrslilddr glrgfpknrv legvidryqq skaaalkcql cekapkeatv
      181 mceqcdvfyc dpcrlrchpp rgplakhrlv ppaqgrvsrr lsprkvstct dhelenhsmy
      241 cvqckmpvcy qcleegkhss hevkalgamw klhksqlsqa lnglsdrake akeflvqlrn
      301 mvqqiqensv efeaclvaqc dalidalnrr kaqllarvnk ehehklkvvr dqishctvkl
      361 rqttglmeyc levikendps gflqisdali rrvhltedqw gkgtltprmt tdfdlsldns
      421 pllqsihqld fvqvkasspv patpilqlee ccthnnsatl swkqpplstv padgyileld
      481 dgnggqfrev yvgketmctv dglhfnstyn arvkafnktg vspysktlvl qtsevawfaf
      541 dpgsahsdii lsndnltvtc ssyddrvvlg ktgfskgihy weltvdrydn hpdpafgvar
      601 mdvmkdvmlg kddkawamyv dnnrswfmhn nshtnrtegg itkgatigvl ldlnrknltf
      661 findeqqgpi afdnveglff pavslnrnvq vtlhtglpvp dfyssrasia
//
LOCUS       NP_001400900             544 aa            linear   PRI 24-MAR-2023
DEFINITION  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 6 precursor
            [Homo sapiens].
ACCESSION   NP_001400900
VERSION     NP_001400900.1
DBSOURCE    REFSEQ: accession NM_001413971.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 544)
  AUTHORS   Alecu JE, Ohmi Y, Bhuiyan RH, Inamori KI, Nitta T, Saffari A, Jumo
            H, Ziegler M, de Gusmao CM, Sharma N, Ohno S, Manabe N, Yamaguchi
            Y, Kambe M, Furukawa K, Sahin M, Inokuchi JI, Furakawa K and
            Ebrahimi-Fakhari D.
  TITLE     Functional validation of novel variants in B4GALNT1 associated with
            early-onset complex hereditary spastic paraplegia with impaired
            ganglioside synthesis
  JOURNAL   Am J Med Genet A 188 (9), 2590-2598 (2022)
   PUBMED   35775650
  REMARK    GeneRIF: Functional validation of novel variants in B4GALNT1
            associated with early-onset complex hereditary spastic paraplegia
            with impaired ganglioside synthesis.
REFERENCE   2  (residues 1 to 544)
  AUTHORS   Mansoori M, Abdi Rad I, Mirzaei A, Tam KJ, Mohsen Hosseini S,
            Mahmodlu R, Mansouri F, Saeednejad Zanjani L and Madjd Z.
  TITLE     Does GD2 synthase (GD2S) detect cancer stem cells in blood samples
            of breast carcinomas?
  JOURNAL   J Appl Biomed 19 (4), 181-189 (2021)
   PUBMED   34907737
  REMARK    GeneRIF: Does GD2 synthase (GD2S) detect cancer stem cells in blood
            samples of breast carcinomas?
REFERENCE   3  (residues 1 to 544)
  AUTHORS   Jiang T, Wu H, Lin M, Yin J, Tan L, Ruan Y and Feng M.
  TITLE     B4GALNT1 promotes progression and metastasis in lung adenocarcinoma
            through JNK/c-Jun/Slug pathway
  JOURNAL   Carcinogenesis 42 (4), 621-630 (2021)
   PUBMED   33367717
  REMARK    GeneRIF: B4GALNT1 promotes progression and metastasis in lung
            adenocarcinoma through JNK/c-Jun/Slug pathway.
REFERENCE   4  (residues 1 to 544)
  AUTHORS   Yoshida H, Koodie L, Jacobsen K, Hanzawa K, Miyamoto Y and Yamamoto
            M.
  TITLE     B4GALNT1 induces angiogenesis, anchorage independence growth and
            motility, and promotes tumorigenesis in melanoma by induction of
            ganglioside GM2/GD2
  JOURNAL   Sci Rep 10 (1), 1199 (2020)
   PUBMED   31988291
  REMARK    GeneRIF: B4GALNT1 enhanced tumorigenesis via induction of
            angiogenesis,ganglioside GM2/GD2 and cell motility.
            Erratum:[Sci Rep. 2020 Oct 9;10(1):17255. PMID: 33037318]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 544)
  AUTHORS   Yang H, Li W, Lv Y, Fan Q, Mao X, Long T, Xie L, Dong C, Yang R and
            Zhang H.
  TITLE     Exploring the mechanism of clear cell renal cell carcinoma
            metastasis and key genes based on multi-tool joint analysis
  JOURNAL   Gene 720, 144103 (2019)
   PUBMED   31491435
  REMARK    GeneRIF: High B4GALNT1 expression is associated with clear cell
            renal cell carcinoma metastasis.
REFERENCE   6  (residues 1 to 544)
  AUTHORS   Ruan S, Raj BK, Furukawa K and Lloyd KO.
  TITLE     Analysis of melanoma cells stably transfected with beta 1,4GalNAc
            transferase (GM2/GD2 synthase) cDNA: relative glycosyltransferase
            levels play a dominant role in determining ganglioside expression
  JOURNAL   Arch Biochem Biophys 323 (1), 11-18 (1995)
   PUBMED   7487055
REFERENCE   7  (residues 1 to 544)
  AUTHORS   Yamashiro S, Haraguchi M, Furukawa K, Takamiya K, Yamamoto A,
            Nagata Y, Lloyd KO, Shiku H and Furukawa K.
  TITLE     Substrate specificity of beta 1,4-N-acetylgalactosaminyltransferase
            in vitro and in cDNA-transfected cells. GM2/GD2 synthase
            efficiently generates asialo-GM2 in certain cells
  JOURNAL   J Biol Chem 270 (11), 6149-6155 (1995)
   PUBMED   7890749
REFERENCE   8  (residues 1 to 544)
  AUTHORS   Nagata,Y., Yamashiro,S., Yodoi,J., Lloyd,K.O., Shiku,H. and
            Furukawa,K.
  TITLE     Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase
            cDNAs that determine the expression of GM2 and GD2 gangliosides
  JOURNAL   J Biol Chem 269 (9), 7045 (1994)
   PUBMED   8120069
  REMARK    Correction to:[J Biol Chem. 1992 Jun 15;267(17):12082-9. PMID:
            1601877]
REFERENCE   9  (residues 1 to 544)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   10 (residues 1 to 544)
  AUTHORS   Nagata Y, Yamashiro S, Yodoi J, Lloyd KO, Shiku H and Furukawa K.
  TITLE     Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase
            cDNAs that determine the expression of GM2 and GD2 gangliosides
  JOURNAL   J Biol Chem 267 (17), 12082-12089 (1992)
   PUBMED   1601877
  REMARK    Erratum:[J Biol Chem. 1994 Mar 4;269(9):7045. PMID: 8120069]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025165.27.
            
            Summary: GM2 and GD2 gangliosides are sialic acid-containing
            glycosphingolipids. GalNAc-T is the enzyme involved in the
            biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T
            catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4
            linkage, resulting in the synthesis of G(M2) and G(D2),
            respectively. Three transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Feb 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1882657.1,
                                           SRR14038191.1309774.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..544
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     Protein         1..544
                     /product="beta-1,4 N-acetylgalactosaminyltransferase 1
                     isoform 6 precursor"
                     /EC_number="2.4.1.92"
                     /note="UDP-Gal:betaGlcNAc
                     beta-1,4-N-acetylgalactosaminyltransferase transferase 1;
                     GD2 synthase, GM2 synthase;
                     beta-1,4-N-acetyl-galactosaminyl transferase 1;
                     UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-
                     galactosylglucosylceramide
                     N-acetylgalactosaminyltransferase (GalNAc-T);
                     beta1,4GalNAc-T; GM2/GD2 synthase"
                     /calculated_mol_wt=57380
     sig_peptide     1..25
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2691
     Region          280..440
                     /region_name="Glyco_tranf_GTA_type"
                     /note="Glycosyltransferase family A (GT-A) includes
                     diverse families of glycosyl transferases with a common
                     GT-A type structural fold; cl11394"
                     /db_xref="CDD:448240"
     CDS             1..544
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /coded_by="NM_001413971.1:473..2107"
                     /note="isoform 6 precursor is encoded by transcript
                     variant 8"
                     /db_xref="GeneID:2583"
                     /db_xref="HGNC:HGNC:4117"
                     /db_xref="MIM:601873"
ORIGIN      
        1 mwlgrralca lvlllacasl gllyastrda pglrlplapw appqsprrpe lpdlapepry
       61 ahipvrikeq vvgllawnnc scessggglp lpfqkqvrai dltkafdpae lraasatreq
      121 efqaflsrsq spadqlliap ansplqyplq gvevqplrsi lvpglslqaa sgqevyqvnl
      181 taslgtwdva gevtgvtltg egqadltlvs pgldqlnrql qlvtyssrsy qtntadtvrf
      241 stegheaaft irirhppnpr lyppgslpqg aqynisalvt iatktflryd rlralitsir
      301 rfyptvtvvi addsdkperv sgpyvehylm pfgkgwfagr nlavsqvttk yvlwvdddfv
      361 ftartrlerl vdvlertpld larleatsls lqvggavrei sgfattyrql lsvepgapgl
      421 gnclrqrrgf hhelvgfpgc vvtdgvvnff lartdkvrev gfdprlsrva hleffldglg
      481 slrvgscsdv vvdhasklkl pwtsrdagae tyaryrypgs ldesqmakhr llffkhrlqc
      541 mtsq
//
LOCUS       NP_001394577            1844 aa            linear   PRI 25-MAR-2023
DEFINITION  breast cancer type 1 susceptibility protein isoform 19 [Homo
            sapiens].
ACCESSION   NP_001394577
VERSION     NP_001394577.1
DBSOURCE    REFSEQ: accession NM_001407648.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1844)
  AUTHORS   Orban TI and Olah E.
  TITLE     Emerging roles of BRCA1 alternative splicing
  JOURNAL   Mol Pathol 56 (4), 191-197 (2003)
   PUBMED   12890739
  REMARK    Review article
REFERENCE   2  (residues 1 to 1844)
  AUTHORS   Orban TI and Olah E.
  TITLE     Expression profiles of BRCA1 splice variants in asynchronous and in
            G1/S synchronized tumor cell lines
  JOURNAL   Biochem Biophys Res Commun 280 (1), 32-38 (2001)
   PUBMED   11162473
REFERENCE   3  (residues 1 to 1844)
  AUTHORS   Paterson JW.
  TITLE     BRCA1: a review of structure and putative functions
  JOURNAL   Dis Markers 13 (4), 261-274 (1998)
   PUBMED   9553742
  REMARK    Review article
REFERENCE   4  (residues 1 to 1844)
  AUTHORS   Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S,
            Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E.
  TITLE     Mutations and alternative splicing of the BRCA1 gene in UK
            breast/ovarian cancer families
  JOURNAL   Genes Chromosomes Cancer 18 (2), 102-110 (1997)
   PUBMED   9115959
REFERENCE   5  (residues 1 to 1844)
  AUTHORS   Wilson CA, Payton MN, Elliott GS, Buaas FW, Cajulis EE, Grosshans
            D, Ramos L, Reese DM, Slamon DJ and Calzone FJ.
  TITLE     Differential subcellular localization, expression and biological
            toxicity of BRCA1 and the splice variant BRCA1-delta11b
  JOURNAL   Oncogene 14 (1), 1-16 (1997)
   PUBMED   9010228
REFERENCE   6  (residues 1 to 1844)
  AUTHORS   Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, Yao J, Farid
            LM, Couch FJ, Wilson RB and Weber BL.
  TITLE     Localization of BRCA1 and a splice variant identifies the nuclear
            localization signal
  JOURNAL   Mol Cell Biol 17 (1), 444-452 (1997)
   PUBMED   8972225
REFERENCE   7  (residues 1 to 1844)
  AUTHORS   Lu M, Conzen SD, Cole CN and Arrick BA.
  TITLE     Characterization of functional messenger RNA splice variants of
            BRCA1 expressed in nonmalignant and tumor-derived breast cells
  JOURNAL   Cancer Res 56 (20), 4578-4581 (1996)
   PUBMED   8840964
REFERENCE   8  (residues 1 to 1844)
  AUTHORS   Holt JT, Thompson ME, Szabo C, Robinson-Benion C, Arteaga CL, King
            MC and Jensen RA.
  TITLE     Growth retardation and tumour inhibition by BRCA1
  JOURNAL   Nat Genet 12 (3), 298-302 (1996)
   PUBMED   8589721
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
REFERENCE   9  (residues 1 to 1844)
  AUTHORS   Xu CF, Brown MA, Chambers JA, Griffiths B, Nicolai H and Solomon E.
  TITLE     Distinct transcription start sites generate two forms of BRCA1 mRNA
  JOURNAL   Hum Mol Genet 4 (12), 2259-2264 (1995)
   PUBMED   8634696
REFERENCE   10 (residues 1 to 1844)
  AUTHORS   Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K,
            Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al.
  TITLE     A strong candidate for the breast and ovarian cancer susceptibility
            gene BRCA1
  JOURNAL   Science 266 (5182), 66-71 (1994)
   PUBMED   7545954
REFERENCE   11 (residues 1 to 1844)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
REFERENCE   12 (residues 1 to 1844)
  AUTHORS   Petrucelli,N., Daly,M.B. and Pal,T.
  TITLE     BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135721.4.
            
            Summary: This gene encodes a 190 kD nuclear phosphoprotein that
            plays a role in maintaining genomic stability, and it also acts as
            a tumor suppressor. The BRCA1 gene contains 22 exons spanning about
            110 kb of DNA. The encoded protein combines with other tumor
            suppressors, DNA damage sensors, and signal transducers to form a
            large multi-subunit protein complex known as the BRCA1-associated
            genome surveillance complex (BASC). This gene product associates
            with RNA polymerase II, and through the C-terminal domain, also
            interacts with histone deacetylase complexes. This protein thus
            plays a role in transcription, DNA repair of double-stranded
            breaks, and recombination. Mutations in this gene are responsible
            for approximately 40% of inherited breast cancers and more than 80%
            of inherited breast and ovarian cancers. Alternative splicing plays
            a role in modulating the subcellular localization and physiological
            function of this gene. Many alternatively spliced transcript
            variants, some of which are disease-associated mutations, have been
            described for this gene, but the full-length natures of only some
            of these variants has been described. A related pseudogene, which
            is also located on chromosome 17, has been identified. [provided by
            RefSeq, May 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1250992.1,
                                           SRR18074967.2938930.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1844
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..1844
                     /product="breast cancer type 1 susceptibility protein
                     isoform 19"
                     /EC_number="2.3.2.27"
                     /note="BRCA1/BRCA2-containing complex, subunit 1; RING
                     finger protein 53; breast cancer type 1 susceptibility
                     protein; breast and ovarian cancer susceptibility protein
                     1; protein phosphatase 1, regulatory subunit 53; Fanconi
                     anemia, complementation group S; early onset breast cancer
                     1; breast cancer 1, early onset"
                     /calculated_mol_wt=205837
     Region          7..99
                     /region_name="RING-HC_BRCA1"
                     /note="RING finger, HC subclass, found in breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd16498"
                     /db_xref="CDD:438161"
     Site            order(7..8,10..11,13..15,17..18,20,22..23,38,40,42,72,74,
                     76..79,81..82,85..86,88..89,92..93,95..97)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:438161"
     Region          22..>227
                     /region_name="rad18"
                     /note="DNA repair protein rad18; TIGR00599"
                     /db_xref="CDD:273165"
     Region          304..466
                     /region_name="BRCT_assoc"
                     /note="Serine-rich domain associated with BRCT; pfam12820"
                     /db_xref="CDD:432806"
     Region          1631..1727
                     /region_name="BRCT_BRCA1_rpt1"
                     /note="first BRCT domain of breast cancer type 1
                     susceptibility protein (BRCA1) and similar proteins;
                     cd17735"
                     /db_xref="CDD:349367"
     Site            order(1635..1637,1639,1679..1683,1685,1721)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349367"
     Region          1739..1836
                     /region_name="BRCT_BRCA1_rpt2"
                     /note="second (C-terminal) BRCT domain of breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd17721"
                     /db_xref="CDD:349353"
     Site            order(1755..1756,1816..1817,1821,1833..1834)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349353"
     CDS             1..1844
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /coded_by="NM_001407648.1:114..5648"
                     /note="isoform 19 is encoded by transcript variant 59"
                     /db_xref="GeneID:672"
                     /db_xref="HGNC:HGNC:1100"
                     /db_xref="MIM:113705"
ORIGIN      
        1 mdlsalrvee vqnvinamqk ilecpiclel ikepvstkcd hifckfcmlk llnqkkgpsq
       61 cplcknditk rslqestrfs qlveellkii cafqldtgle yansynfakk ennspehlkd
      121 evsiiqsmgy rnrakrllqs epenpslqet slsvqlsnlg tvrtlrtkqr iqpqktsvyi
      181 elaacefset dvtntehhqp snndlnttek raaerhpeky qgssvsnlhv epcgtnthas
      241 slqhenssll ltkdrmnvek aefcnkskqp glarsqhnrw agsketcndr rtpstekkvd
      301 lnadplcerk ewnkqklpcs enprdtedvp witlnssiqk vnewfsrsde llgsddshdg
      361 esesnakvad vldvlnevde ysgssekidl lasdpheali ckservhsks vesniedkif
      421 gktyrkkasl pnlshvtenl iigafvtepq iiqerpltnk lkrkrrptsg lhpedfikka
      481 dlavqktpem inqgtnqteq ngqvmnitns ghenktkgds iqneknpnpi eslekesafk
      541 tkaepisssi snmelelnih nskapkknrl rrksstrhih alelvvsrnl sppnctelqi
      601 dscssseeik kkkynqmpvr hsrnlqlmeg kepatgakks nkpneqtskr hdsdtfpelk
      661 ltnapgsftk csntselkef vnpslpreek eekletvkvs nnaedpkdlm lsgervlqte
      721 rsvesssisl vpgtdygtqe sisllevstl gkaktepnkc vsqcaafenp kglihgcskd
      781 nrndtegfky plghevnhsr etsiemeese ldaqylqntf kvskrqsfap fsnpgnaeee
      841 catfsahsgs lkkqspkvtf eceqkeenqg knesnikpvq tvnitagfpv vgqkdkpvdn
      901 akcsikggsr fclssqfrgn etglitpnkh gllqnpyrip plfpiksfvk tkckknllee
      961 nfeehsmspe remgnenips tvstisrnni renvfkeass sninevgsst nevgssinei
     1021 gssdeniqae lgrnrgpkln amlrlgvlqp evykqslpgs nckhpeikkq eyeevvqtvn
     1081 tdfspylisd nleqpmgssh asqvcsetpd dllddgeike dtsfaendik essavfsksv
     1141 qkgelsrsps pfththlaqg yrrgakkles seenlssede elpcfqhllf gkvnnipsqs
     1201 trhstvatec lsknteenll slknslndcs nqvilakasq ehhlseetkc saslfssqcs
     1261 eledltantn tqdpfligss kqmrhqsesq gvglsdkelv sddeergtgl eennqeeqsm
     1321 dsnlgeaasg cesetsvsed csglssqsdi lttqqrdtmq hnliklqqem aeleavleqh
     1381 gsqpsnsyps iisdssaled lrnpeqstse kdshihgqrn nsmfskrpre hisavltsqk
     1441 sseypisqnp eglsadkfev sadsstsknk epgverssps kcpslddrwy mhscsgslqn
     1501 rnypsqeeli kvvdveeqql eesgphdlte tsylprqdle gtpylesgis lfsddpesdp
     1561 sedrapesar vgnipsstsa lkvpqlkvae saqspaaaht tdtagyname esvsrekpel
     1621 tastervnkr msmvvsgltp eefmlvykfa rkhhitltnl iteetthvvm ktdaefvcer
     1681 tlkyflgiag gkwvvsyfwv tqsikerkml nehdfevrgd vvngrnhqgp kraresqdrk
     1741 ifrgleiccy gpftnmptdq lewmvqlcga svvkelssft lgtgvhpivv vqpdawtedn
     1801 gfhaigqmce apvvtrewvl dsvalyqcqe ldtylipqip hshy
//
LOCUS       NP_001394589            1835 aa            linear   PRI 25-MAR-2023
DEFINITION  breast cancer type 1 susceptibility protein isoform 25 [Homo
            sapiens].
ACCESSION   NP_001394589
VERSION     NP_001394589.1
DBSOURCE    REFSEQ: accession NM_001407660.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1835)
  AUTHORS   Orban TI and Olah E.
  TITLE     Emerging roles of BRCA1 alternative splicing
  JOURNAL   Mol Pathol 56 (4), 191-197 (2003)
   PUBMED   12890739
  REMARK    Review article
REFERENCE   2  (residues 1 to 1835)
  AUTHORS   Orban TI and Olah E.
  TITLE     Expression profiles of BRCA1 splice variants in asynchronous and in
            G1/S synchronized tumor cell lines
  JOURNAL   Biochem Biophys Res Commun 280 (1), 32-38 (2001)
   PUBMED   11162473
REFERENCE   3  (residues 1 to 1835)
  AUTHORS   Paterson JW.
  TITLE     BRCA1: a review of structure and putative functions
  JOURNAL   Dis Markers 13 (4), 261-274 (1998)
   PUBMED   9553742
  REMARK    Review article
REFERENCE   4  (residues 1 to 1835)
  AUTHORS   Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S,
            Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E.
  TITLE     Mutations and alternative splicing of the BRCA1 gene in UK
            breast/ovarian cancer families
  JOURNAL   Genes Chromosomes Cancer 18 (2), 102-110 (1997)
   PUBMED   9115959
REFERENCE   5  (residues 1 to 1835)
  AUTHORS   Wilson CA, Payton MN, Elliott GS, Buaas FW, Cajulis EE, Grosshans
            D, Ramos L, Reese DM, Slamon DJ and Calzone FJ.
  TITLE     Differential subcellular localization, expression and biological
            toxicity of BRCA1 and the splice variant BRCA1-delta11b
  JOURNAL   Oncogene 14 (1), 1-16 (1997)
   PUBMED   9010228
REFERENCE   6  (residues 1 to 1835)
  AUTHORS   Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, Yao J, Farid
            LM, Couch FJ, Wilson RB and Weber BL.
  TITLE     Localization of BRCA1 and a splice variant identifies the nuclear
            localization signal
  JOURNAL   Mol Cell Biol 17 (1), 444-452 (1997)
   PUBMED   8972225
REFERENCE   7  (residues 1 to 1835)
  AUTHORS   Lu M, Conzen SD, Cole CN and Arrick BA.
  TITLE     Characterization of functional messenger RNA splice variants of
            BRCA1 expressed in nonmalignant and tumor-derived breast cells
  JOURNAL   Cancer Res 56 (20), 4578-4581 (1996)
   PUBMED   8840964
REFERENCE   8  (residues 1 to 1835)
  AUTHORS   Holt JT, Thompson ME, Szabo C, Robinson-Benion C, Arteaga CL, King
            MC and Jensen RA.
  TITLE     Growth retardation and tumour inhibition by BRCA1
  JOURNAL   Nat Genet 12 (3), 298-302 (1996)
   PUBMED   8589721
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
REFERENCE   9  (residues 1 to 1835)
  AUTHORS   Xu CF, Brown MA, Chambers JA, Griffiths B, Nicolai H and Solomon E.
  TITLE     Distinct transcription start sites generate two forms of BRCA1 mRNA
  JOURNAL   Hum Mol Genet 4 (12), 2259-2264 (1995)
   PUBMED   8634696
REFERENCE   10 (residues 1 to 1835)
  AUTHORS   Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K,
            Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al.
  TITLE     A strong candidate for the breast and ovarian cancer susceptibility
            gene BRCA1
  JOURNAL   Science 266 (5182), 66-71 (1994)
   PUBMED   7545954
REFERENCE   11 (residues 1 to 1835)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
REFERENCE   12 (residues 1 to 1835)
  AUTHORS   Petrucelli,N., Daly,M.B. and Pal,T.
  TITLE     BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135721.4.
            
            Summary: This gene encodes a 190 kD nuclear phosphoprotein that
            plays a role in maintaining genomic stability, and it also acts as
            a tumor suppressor. The BRCA1 gene contains 22 exons spanning about
            110 kb of DNA. The encoded protein combines with other tumor
            suppressors, DNA damage sensors, and signal transducers to form a
            large multi-subunit protein complex known as the BRCA1-associated
            genome surveillance complex (BASC). This gene product associates
            with RNA polymerase II, and through the C-terminal domain, also
            interacts with histone deacetylase complexes. This protein thus
            plays a role in transcription, DNA repair of double-stranded
            breaks, and recombination. Mutations in this gene are responsible
            for approximately 40% of inherited breast cancers and more than 80%
            of inherited breast and ovarian cancers. Alternative splicing plays
            a role in modulating the subcellular localization and physiological
            function of this gene. Many alternatively spliced transcript
            variants, some of which are disease-associated mutations, have been
            described for this gene, but the full-length natures of only some
            of these variants has been described. A related pseudogene, which
            is also located on chromosome 17, has been identified. [provided by
            RefSeq, May 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1859486.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1835
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..1835
                     /product="breast cancer type 1 susceptibility protein
                     isoform 25"
                     /EC_number="2.3.2.27"
                     /note="BRCA1/BRCA2-containing complex, subunit 1; RING
                     finger protein 53; breast cancer type 1 susceptibility
                     protein; breast and ovarian cancer susceptibility protein
                     1; protein phosphatase 1, regulatory subunit 53; Fanconi
                     anemia, complementation group S; early onset breast cancer
                     1; breast cancer 1, early onset"
                     /calculated_mol_wt=204345
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          7..73
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Site            88
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          203..243
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          279..311
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          318..480
                     /region_name="BRCT_assoc"
                     /note="Serine-rich domain associated with BRCT; pfam12820"
                     /db_xref="CDD:432806"
     Site            368
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            371
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            396
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            407
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          507..543
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            524
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          627..682
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            667
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            681
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            698
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48754; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            726
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            813
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48754; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            961
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CHEK2.
                     /evidence=ECO:0000269|PubMed:10724175,
                     ECO:0000269|PubMed:20364141; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            982
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1116
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1154..1189
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1162
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1164
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1184
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1190
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1191
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1253
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1295..1360
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1301
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1309
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1315
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1360
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM and ATR.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1367
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1369..1396
                     /region_name="Interaction with PALB2.
                     /evidence=ECO:0000269|PubMed:19369211"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1395
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM and ATR.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1412..1477
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1429
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1496
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM.
                     /evidence=ECO:0000269|PubMed:21144835; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1514
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1537..1568
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          1622..1718
                     /region_name="BRCT_BRCA1_rpt1"
                     /note="first BRCT domain of breast cancer type 1
                     susceptibility protein (BRCA1) and similar proteins;
                     cd17735"
                     /db_xref="CDD:349367"
     Site            order(1626..1628,1630,1670..1674,1676,1712)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349367"
     Region          1730..1827
                     /region_name="BRCT_BRCA1_rpt2"
                     /note="second (C-terminal) BRCT domain of breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd17721"
                     /db_xref="CDD:349353"
     Site            order(1746..1747,1807..1808,1812,1824..1825)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349353"
     CDS             1..1835
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /coded_by="NM_001407660.1:114..5621"
                     /note="isoform 25 is encoded by transcript variant 69"
                     /db_xref="GeneID:672"
                     /db_xref="HGNC:HGNC:1100"
                     /db_xref="MIM:113705"
ORIGIN      
        1 mdlsalrvee vqnvinamqk ilecpiclel ikepvstkcd hifckslqes trfsqlveel
       61 lkiicafqld tgleyansyn fakkennspe hlkdevsiiq smgyrnrakr llqsepenps
      121 letslsvqls nlgtvrtlrt kqriqpqkts vyielgsdss edtvnkatyc svgdqellqi
      181 tpqgtrdeis ldsakkaace fsetdvtnte hhqpsnndln ttekraaerh pekyqgssvs
      241 nlhvepcgtn thasslqhen ssllltkdrm nvekaefcnk skqpglarsq hnrwagsket
      301 cndrrtpste kkvdlnadpl cerkewnkqk lpcsenprdt edvpwitlns siqkvnewfs
      361 rsdellgsdd shdgesesna kvadvldvln evdeysgsse kidllasdph ealickserv
      421 hsksvesnie dkifgktyrk kaslpnlshv tenliigafv tepqiiqerp ltnklkrkrr
      481 ptsglhpedf ikkadlavqk tpeminqgtn qteqngqvmn itnsghenkt kgdsiqnekn
      541 pnpiesleke safktkaepi sssisnmele lnihnskapk knrlrrksst rhihalelvv
      601 srnlsppnct elqidscsss eeikkkkynq mpvrhsrnlq lmegkepatg akksnkpneq
      661 tskrhdsdtf pelkltnapg sftkcsntse lkefvnpslp reekeeklet vkvsnnaedp
      721 kdlmlsgerv lqtersvess sislvpgtdy gtqesislle vstlgkakte pnkcvsqcaa
      781 fenpkglihg cskdnrndte gfkyplghev nhsretsiem eeseldaqyl qntfkvskrq
      841 sfapfsnpgn aeeecatfsa hsgslkkqsp kvtfeceqke enqgknesni kpvqtvnita
      901 gfpvvgqkdk pvdnakcsik ggsrfclssq frgnetglit pnkhgllqnp yripplfpik
      961 sfvktkckkn lleenfeehs msperemgne nipstvstis rnnirenvfk easssninev
     1021 gsstnevgss ineigssden iqaelgrnrg pklnamlrlg vlqpevykqs lpgsnckhpe
     1081 ikkqeyeevv qtvntdfspy lisdnleqpm gsshasqvcs etpddllddg eikedtsfae
     1141 ndikessavf sksvqkgels rspspfthth laqgyrrgak klesseenls sedeelpcfq
     1201 hllfgkvnni psqstrhstv ateclsknte enllslknsl ndcsnqvila kasqehhlse
     1261 etkcsaslfs sqcseledlt antntqdpfl igsskqmrhq sesqgvglsd kelvsddeer
     1321 gtgleennqe eqsmdsnlge aasgcesets vsedcsglss qsdilttqrd tmqhnliklq
     1381 qemaeleavl eqhgsqpsns ypsiisdssa ledlrnpeqs tsekavltsq ksseypisqn
     1441 peglsadkfe vsadsstskn kepgverssp skcpslddrw ymhscsgslq nrnypsqeel
     1501 ikvvdveeqq leesgphdlt etsylprqdl egtpylesgi slfsddpesd psedrapesa
     1561 rvgnipssts alkvpqlkva esaqspaaah ttdtagynam eesvsrekpe ltastervnk
     1621 rmsmvvsglt peefmlvykf arkhhitltn liteetthvv mktdaefvce rtlkyflgia
     1681 ggkwvvsyfw vtqsikerkm lnehdfevrg dvvngrnhqg pkraresqdr kifrgleicc
     1741 ygpftnmptd qlewmvqlcg asvvkelssf tlgtgvhpiv vvqpdawted ngfhaigqmc
     1801 eapvvtrewv ldsvalyqcq eldtylipqi phshy
//
LOCUS       NP_005769                815 aa            linear   PRI 10-APR-2023
DEFINITION  RNA-binding protein 5 [Homo sapiens].
ACCESSION   NP_005769
VERSION     NP_005769.1
DBSOURCE    REFSEQ: accession NM_005778.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 815)
  AUTHORS   Bai T and Liu N.
  TITLE     RNA-binding protein PUM2 promotes T-cell acute lymphoblastic
            leukemia via competitively binding to RBM5 3'UTR with miR-28-5p
  JOURNAL   Eur J Haematol 110 (5), 498-509 (2023)
   PUBMED   36536516
  REMARK    GeneRIF: RNA-binding protein PUM2 promotes T-cell acute
            lymphoblastic leukemia via competitively binding to RBM5 3'UTR with
            miR-28-5p.
REFERENCE   2  (residues 1 to 815)
  AUTHORS   Pourpre R, Lakisic G, Desgranges E, Cossart P, Pagliuso A and
            Bierne H.
  TITLE     A bacterial virulence factor interacts with the splicing factor
            RBM5 and stimulates formation of nuclear RBM5 granules
  JOURNAL   Sci Rep 12 (1), 21961 (2022)
   PUBMED   36535993
  REMARK    GeneRIF: A bacterial virulence factor interacts with the splicing
            factor RBM5 and stimulates formation of nuclear RBM5 granules.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 815)
  AUTHORS   Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ, de
            Vries PF, Alobaidi BKS, Batty LE, Ismail H, Greenwood J, Sheth H,
            Mikulasova A, Astuti GDN, Gilissen C, McEleny K, Turner H, Coxhead
            J, Cockell S, Braat DDM, Fleischer K, D'Hauwers KWM, Schaafsma E,
            Nagirnaja L, Conrad DF, Friedrich C, Kliesch S, Aston KI,
            Riera-Escamilla A, Krausz C, Gonzaga-Jauregui C, Santibanez-Koref
            M, Elliott DJ, Vissers LELM, Tuttelmann F, O'Bryan MK, Ramos L,
            Xavier MJ, van der Heijden GW and Veltman JA.
  CONSRTM   Genetics of Male Infertility Initiative (GEMINI) consortium
  TITLE     A de novo paradigm for male infertility
  JOURNAL   Nat Commun 13 (1), 154 (2022)
   PUBMED   35013161
  REMARK    GeneRIF: A de novo paradigm for male infertility.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 815)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 815)
  AUTHORS   Oh JJ, Koegel AK, Phan DT, Razfar A and Slamon DJ.
  TITLE     The two single nucleotide polymorphisms in the H37/RBM5 tumour
            suppressor gene at 3p21.3 correlated with different subtypes of
            non-small cell lung cancers
  JOURNAL   Lung Cancer 58 (1), 7-14 (2007)
   PUBMED   17606309
  REMARK    GeneRIF: specific allele types at C1138T and C2185T single
            nucleotide polymorphisms positions are correlated with different
            histological subtypes of non-small cell lung cancer
REFERENCE   6  (residues 1 to 815)
  AUTHORS   Sutherland LC, Edwards SE, Cable HC, Poirier GG, Miller BA, Cooper
            CS and Williams GT.
  TITLE     LUCA-15-encoded sequence variants regulate CD95-mediated apoptosis
  JOURNAL   Oncogene 19 (33), 3774-3781 (2000)
   PUBMED   10949932
REFERENCE   7  (residues 1 to 815)
  AUTHORS   Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH,
            Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT and Old
            LJ.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
REFERENCE   8  (residues 1 to 815)
  AUTHORS   Oh JJ, Grosshans DR, Wong SG and Slamon DJ.
  TITLE     Identification of differentially expressed genes associated with
            HER-2/neu overexpression in human breast cancer cells
  JOURNAL   Nucleic Acids Res 27 (20), 4008-4017 (1999)
   PUBMED   10497265
REFERENCE   9  (residues 1 to 815)
  AUTHORS   Timmer T, Terpstra P, van den Berg A, Veldhuis PM, Ter Elst A, van
            der Veen AY, Kok K, Naylor SL and Buys CH.
  TITLE     An evolutionary rearrangement of the Xp11.3-11.23 region in 3p21.3,
            a region frequently deleted in a variety of cancers
  JOURNAL   Genomics 60 (2), 238-240 (1999)
   PUBMED   10486216
REFERENCE   10 (residues 1 to 815)
  AUTHORS   Timmer T, Terpstra P, van den Berg A, Veldhuis PM, Ter Elst A,
            Voutsinas G, Hulsbeek MM, Draaijers TG, Looman MW, Kok K, Naylor SL
            and Buys CH.
  TITLE     A comparison of genomic structures and expression patterns of two
            closely related flanking genes in a critical lung cancer region at
            3p21.3
  JOURNAL   Eur J Hum Genet 7 (4), 478-486 (1999)
   PUBMED   10352938
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB080737.1, AF091263.1,
            DA776815.1, CN293007.1, BM985111.1 and AC104450.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene is a candidate tumor suppressor gene which
            encodes a nuclear RNA binding protein that is a component of the
            spliceosome A complex. The encoded protein plays a role in the
            induction of cell cycle arrest and apoptosis through pre-mRNA
            splicing of multiple target genes including the tumor suppressor
            protein p53. This gene is located within the tumor suppressor
            region 3p21.3, and may play a role in the inhibition of tumor
            transformation and progression of several malignancies including
            lung cancer. [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and is protein coding.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.73267.1,
                                           SRR1803617.129474.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000347869.8/ ENSP00000343054.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..815
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..815
                     /product="RNA-binding protein 5"
                     /note="putative tumor suppressor LUCA15; renal carcinoma
                     antigen NY-REN-9"
                     /calculated_mol_wt=92023
     Region          1..93
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P52756.2)"
     Site            18
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P52756.2)"
     Site            59
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P52756.2)"
     Site            69
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P52756.2)"
     Site            72
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P52756.2)"
     Site            78
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P52756.2)"
     Region          93..179
                     /region_name="RRM1_RBM5"
                     /note="RNA recognition motif 1 (RRM1) found in vertebrate
                     RNA-binding protein 5 (RBM5); cd12752"
                     /db_xref="CDD:410146"
     Region          181..210
                     /region_name="zf-RanBP"
                     /note="Zn-finger in Ran binding protein and others;
                     pfam00641"
                     /db_xref="CDD:395516"
     Region          185..204
                     /region_name="RanBP2-type Zn finger"
                     /note="RanBP2-type Zn finger [structural motif]"
                     /db_xref="CDD:275375"
     Region          229..314
                     /region_name="RRM2_RBM5"
                     /note="RNA recognition motif 2 (RRM2) found in vertebrate
                     RNA-binding protein 5 (RBM5); cd12755"
                     /db_xref="CDD:410149"
     Region          321..809
                     /region_name="Required for interaction with U2AF2.
                     /evidence=ECO:0000269|PubMed:18851835"
                     /note="propagated from UniProtKB/Swiss-Prot (P52756.2)"
     Region          411..468
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P52756.2)"
     Site            444
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P52756.2)"
     Region          452..535
                     /region_name="Sufficient for interaction with ACIN1,
                     PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200.
                     /evidence=ECO:0000269|PubMed:18851835"
                     /note="propagated from UniProtKB/Swiss-Prot (P52756.2)"
     Region          455..510
                     /region_name="OCRE_RBM5"
                     /note="OCRE domain found in RNA-binding protein 5 (RBM5)
                     and similar proteins; cd16168"
                     /db_xref="CDD:293887"
     Region          460..467
                     /region_name="OCRE repeat 1"
                     /note="OCRE repeat 1 [structural motif]"
                     /db_xref="CDD:293887"
     Region          468..475
                     /region_name="OCRE repeat 2"
                     /note="OCRE repeat 2 [structural motif]"
                     /db_xref="CDD:293887"
     Region          476..483
                     /region_name="OCRE repeat 3"
                     /note="OCRE repeat 3 [structural motif]"
                     /db_xref="CDD:293887"
     Region          484..491
                     /region_name="OCRE repeat 4"
                     /note="OCRE repeat 4 [structural motif]"
                     /db_xref="CDD:293887"
     Region          493..500
                     /region_name="OCRE repeat 5"
                     /note="OCRE repeat 5 [structural motif]"
                     /db_xref="CDD:293887"
     Region          507..540
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P52756.2)"
     Site            621
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P52756.2)"
     Site            624
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P52756.2)"
     Region          743..787
                     /region_name="G-patch"
                     /note="G-patch domain; pfam01585"
                     /db_xref="CDD:396249"
     CDS             1..815
                     /gene="RBM5"
                     /gene_synonym="G15; H37; LUCA-15; LUCA15; RMB5"
                     /coded_by="NM_005778.4:165..2612"
                     /db_xref="CCDS:CCDS2810.1"
                     /db_xref="GeneID:10181"
                     /db_xref="HGNC:HGNC:9902"
                     /db_xref="MIM:606884"
ORIGIN      
        1 mgsdkrvsrt ersgrygsii drddrderes rsrrrdsdyk rssddrrgdr yddyrdydsp
       61 erererrnsd rsedgyhsdg dygehdyrhd isdereskti mlrglpitit esdiremmes
      121 fegpqpadvr lmkrktgvsr gfafvefyhl qdatswmean qkklviqgkh iamhysnprp
      181 kfedwlcnkc clnnfrkrlk cfrcgadkfd seqevppgtt esvqsvdyyc dtiilrniap
      241 htvvdsimta lspyaslavn nirlikdkqt qqnrgfafvq lssamdasql lqilqslhpp
      301 lkidgktigv dfaksarkdl vlsdgnrvsa fsvastaiaa aqwsstqsqs geggsvdysy
      361 lqpgqdgyaq yaqysqdyqq fyqqqaggle sdassasgta vtttsaavvs qspqlynqts
      421 nppgspteea qpstststqa paasptgvvp gtkyavpdts tyqydessgy yydpttglyy
      481 dpnsqyyyns ltqqylywdg eketyvpaae ssshqqsglp pakegkekke kpksktaqqi
      541 akdmerwaks lnkqkenfkn sfqpvnslre eerresaaad agfalfekkg alaerqqlip
      601 elvrngdeen plkrglvaay sgdsdneeel verleseeek ladwkkmacl lcrrqfpnkd
      661 alvrhqqlsd lhkqnmdiyr rsrlseqele alelreremk yrdraaerre kygipeppep
      721 krkkqfdagt vnyeqptkdg idhsnignkm lqamgwregs glgrkcqgit apieaqvrlk
      781 gaglgakgsa yglsgadsyk davrkamfar fteme
//
LOCUS       NP_001354608             771 aa            linear   PRI 10-APR-2023
DEFINITION  SUN domain-containing protein 1 isoform pp [Homo sapiens].
ACCESSION   NP_001354608
VERSION     NP_001354608.1
DBSOURCE    REFSEQ: accession NM_001367679.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 771)
  AUTHORS   Meng Q, Shao B, Zhao D, Fu X, Wang J, Li H, Zhou Q and Gao T.
  TITLE     Loss of SUN1 function in spermatocytes disrupts the attachment of
            telomeres to the nuclear envelope and contributes to
            non-obstructive azoospermia in humans
  JOURNAL   Hum Genet 142 (4), 531-541 (2023)
   PUBMED   36933034
  REMARK    GeneRIF: Loss of SUN1 function in spermatocytes disrupts the
            attachment of telomeres to the nuclear envelope and contributes to
            non-obstructive azoospermia in humans.
REFERENCE   2  (residues 1 to 771)
  AUTHORS   Wu H, Zhang X, Hua R, Li Y, Cheng L, Li K, Liu Y, Gao Y, Shen Q,
            Wang G, Lv M, Xu Y, He X, Cao Y and Liu M.
  TITLE     Homozygous missense mutation in CCDC155 disrupts the transmembrane
            distribution of CCDC155 and SUN1, resulting in non-obstructive
            azoospermia and premature ovarian insufficiency in humans
  JOURNAL   Hum Genet 141 (11), 1795-1809 (2022)
   PUBMED   35587281
  REMARK    GeneRIF: Homozygous missense mutation in CCDC155 disrupts the
            transmembrane distribution of CCDC155 and SUN1, resulting in
            non-obstructive azoospermia and premature ovarian insufficiency in
            humans.
REFERENCE   3  (residues 1 to 771)
  AUTHORS   Persaud M, Selyutina A, Buffone C, Opp S, Donahue DA, Schwartz O
            and Diaz-Griffero F.
  TITLE     Nuclear restriction of HIV-1 infection by SUN1
  JOURNAL   Sci Rep 11 (1), 19128 (2021)
   PUBMED   34580332
  REMARK    GeneRIF: Nuclear restriction of HIV-1 infection by SUN1.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 771)
  AUTHORS   Chen Y, Wang Y, Chen J, Zuo W, Fan Y, Huang S, Liu Y, Chen G, Li Q,
            Li J, Wu J, Bian Q, Huang C and Lei M.
  TITLE     The SUN1-SPDYA interaction plays an essential role in meiosis
            prophase I
  JOURNAL   Nat Commun 12 (1), 3176 (2021)
   PUBMED   34039995
  REMARK    GeneRIF: The SUN1-SPDYA interaction plays an essential role in
            meiosis prophase I.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 771)
  AUTHORS   Hieda M, Matsumoto T, Isobe M, Kurono S, Yuka K, Kametaka S, Wang
            JY, Chi YH, Kameda K, Kimura H, Matsuura N and Matsuura S.
  TITLE     The SUN2-nesprin-2 LINC complex and KIF20A function in the Golgi
            dispersal
  JOURNAL   Sci Rep 11 (1), 5358 (2021)
   PUBMED   33686165
  REMARK    GeneRIF: The SUN2-nesprin-2 LINC complex and KIF20A function in the
            Golgi dispersal.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 771)
  AUTHORS   Crisp M, Liu Q, Roux K, Rattner JB, Shanahan C, Burke B, Stahl PD
            and Hodzic D.
  TITLE     Coupling of the nucleus and cytoplasm: role of the LINC complex
  JOURNAL   J Cell Biol 172 (1), 41-53 (2006)
   PUBMED   16380439
REFERENCE   7  (residues 1 to 771)
  AUTHORS   Padmakumar VC, Libotte T, Lu W, Zaim H, Abraham S, Noegel AA,
            Gotzmann J, Foisner R and Karakesisoglou I.
  TITLE     The inner nuclear membrane protein Sun1 mediates the anchorage of
            Nesprin-2 to the nuclear envelope
  JOURNAL   J Cell Sci 118 (Pt 15), 3419-3430 (2005)
   PUBMED   16079285
  REMARK    GeneRIF: The Sun1 itself does not require functional A-type lamins
            for its localisation at the inner nuclear membrane in mammalian
            cells.
REFERENCE   8  (residues 1 to 771)
  AUTHORS   Bray JD, Chennathukuzhi VM and Hecht NB.
  TITLE     Identification and characterization of cDNAs encoding four novel
            proteins that interact with translin associated factor-X
  JOURNAL   Genomics 79 (6), 799-808 (2002)
   PUBMED   12036294
  REMARK    GeneRIF: Isolation of a cDNA encoding a mouse homolog of the human
            SUN1 (UNC84A) gene.
REFERENCE   9  (residues 1 to 771)
  AUTHORS   Dreger M, Bengtsson L, Schoneberg T, Otto H and Hucho F.
  TITLE     Nuclear envelope proteomics: novel integral membrane proteins of
            the inner nuclear membrane
  JOURNAL   Proc Natl Acad Sci U S A 98 (21), 11943-11948 (2001)
   PUBMED   11593002
  REMARK    GeneRIF: KIAA0810 is a novel 100-kDa transmembrane protein with
            similarity to Caenorhabditis elegans Unc-84A and resides in the
            inner nuclear membrane. It is likely to interact with the nuclear
            lamina.
REFERENCE   10 (residues 1 to 771)
  AUTHORS   Malone CJ, Fixsen WD, Horvitz HR and Han M.
  TITLE     UNC-84 localizes to the nuclear envelope and is required for
            nuclear migration and anchoring during C. elegans development
  JOURNAL   Development 126 (14), 3171-3181 (1999)
   PUBMED   10375507
  REMARK    GeneRIF: Describes cloning and function of C. elegans unc-84 and
            cloning of human orthologs.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099731.5.
            
            Summary: This gene is a member of the unc-84 homolog family and
            encodes a nuclear envelope protein with an Unc84 (SUN) domain. The
            protein is involved in nuclear anchorage and migration.
            Alternatively spliced transcript variants have been described.
            [provided by RefSeq, Jan 2019].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.61398.1,
                                           SRR1660805.237145.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..771
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     Protein         1..771
                     /product="SUN domain-containing protein 1 isoform pp"
                     /note="Sad1 unc-84 domain protein 1; protein unc-84
                     homolog A; SUN domain-containing protein 1; sad1/unc-84
                     protein-like 1"
                     /calculated_mol_wt=85196
     Region          12..278
                     /region_name="MRP"
                     /note="Mitochondrial RNA binding protein MRP; pfam09387"
                     /db_xref="CDD:430576"
     Region          <352..546
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          403..456
                     /region_name="SUN1_cc1"
                     /note="coiled-coil domain 1 of SUN domain-containing
                     protein 1 and similar proteins; cd21439"
                     /db_xref="CDD:410605"
     Site            order(403,406..407,410,413..414,417..418,420..421,
                     424..425,427..428,431..432,434..435,438,441..442,445,
                     448..449,452..453,455..456)
                     /site_type="other"
                     /note="putative trimer interface [polypeptide binding]"
                     /db_xref="CDD:410605"
     Region          533..591
                     /region_name="Sun2_CC2"
                     /note="SUN2 coiled coil domain 2; pfam18580"
                     /db_xref="CDD:436594"
     Region          634..769
                     /region_name="Sad1_UNC"
                     /note="Sad1 / UNC-like C-terminal; pfam07738"
                     /db_xref="CDD:400199"
     CDS             1..771
                     /gene="SUN1"
                     /gene_synonym="UNC84A"
                     /coded_by="NM_001367679.1:105..2420"
                     /note="isoform pp is encoded by transcript variant 42"
                     /db_xref="GeneID:23353"
                     /db_xref="HGNC:HGNC:18587"
                     /db_xref="MIM:607723"
ORIGIN      
        1 msrrslrlat tactlgdgea vgadsgtssa vslknraart tkqrrstnks afsinhvsrq
       61 vtssgvshgg tvslqdavtr rppvldeswi reqttvdhfw gldddgdlkg gnkaaiqgng
      121 dvgaaaatah ngfscsncsm lserkdvlta hpaapgpvsr vysrdrnqkc ddckgkrhld
      181 ahtaahsqsp rlpgragtlw hiwacagyfl lqilrrigav gqavsrtaws alwlavvapg
      241 kaasgvfwwl gigwyqfvtl iswlnvfllt rclrnickfl vlliplflll glslrgqgnf
      301 fsflpvlnwa smhrtqrvdd pqdvfkptts rlkqplqgds eafpwhwmsg veqqvaslsg
      361 qchhhgenlr elttllqklq arvdqmegga agpsasvrda vgqppretdf mafhqehevr
      421 mshledilgk lrekseaiqk eleqtkqkti savgeqllpt vehlqleldq lkselsswrh
      481 vktgcetvda vqervdvqvr emvkllfsed qqggsleqll qrfssqfvsk gdlqtmlrdl
      541 qlqilrnvth hvsvtkqlpt seavvsavse agasgiteaq araivnsalk lysqdktgmv
      601 dfalesgggs ilstrcsety etktalmslf giplwyfsqs prvviqpdiy pgncwafkgs
      661 qgylvvrlsm mihpaaftle hipktlsptg nissapkdfa vygleneyqe egqllgqfty
      721 dqdgeslqmf qalkrpddta fqivelrifs nwghpeytcl yrfrvhgepv k
//
LOCUS       NP_001268230             766 aa            linear   PRI 17-APR-2023
DEFINITION  kinesin-like protein KIF23 isoform 3 [Homo sapiens].
ACCESSION   NP_001268230
VERSION     NP_001268230.1
DBSOURCE    REFSEQ: accession NM_001281301.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 766)
  AUTHORS   Xu H, Liu J, Zhang Y, Zhou Y, Zhang L, Kang J, Ning C, He Z and
            Song S.
  TITLE     KIF23, under regulation by androgen receptor, contributes to
            nasopharyngeal carcinoma deterioration by activating the
            Wnt/beta-catenin signaling pathway
  JOURNAL   Funct Integr Genomics 23 (2), 116 (2023)
   PUBMED   37010644
  REMARK    GeneRIF: KIF23, under regulation by androgen receptor, contributes
            to nasopharyngeal carcinoma deterioration by activating the
            Wnt/beta-catenin signaling pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 766)
  AUTHORS   Liu XL, Sun CF, Yuan Y, Sheng YJ and Deng CL.
  TITLE     [MicroRNA 424-5p promotes the sensitivity of hepatocellular
            carcinoma cells to sorafenib by targeting Kinesin family member 23]
  JOURNAL   Zhonghua Gan Zang Bing Za Zhi 30 (10), 1074-1081 (2022)
   PUBMED   36727232
  REMARK    GeneRIF: [MicroRNA 424-5p promotes the sensitivity of
            hepatocellular carcinoma cells to sorafenib by targeting Kinesin
            family member 23].
REFERENCE   3  (residues 1 to 766)
  AUTHORS   Li Z, Yang HY, Zhang XL, Zhang X, Huang YZ, Dai XY, Shi L, Zhou GR,
            Wei JF and Ding Q.
  TITLE     Kinesin family member 23, regulated by FOXM1, promotes triple
            negative breast cancer progression via activating Wnt/beta-catenin
            pathway
  JOURNAL   J Exp Clin Cancer Res 41 (1), 168 (2022)
   PUBMED   35524313
  REMARK    GeneRIF: Kinesin family member 23, regulated by FOXM1, promotes
            triple negative breast cancer progression via activating
            Wnt/beta-catenin pathway.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 766)
  AUTHORS   Wu Z, Zhou G, Wang H and Yao P.
  TITLE     Inhibition of KIF23 Alleviates IPAH by Targeting Pyroptosis and
            Proliferation of PASMCs
  JOURNAL   Int J Mol Sci 23 (8), 4436 (2022)
   PUBMED   35457254
  REMARK    GeneRIF: Inhibition of KIF23 Alleviates IPAH by Targeting
            Pyroptosis and Proliferation of PASMCs.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 766)
  AUTHORS   Shen E, Zhang J and Lu Y.
  TITLE     DEP domain containing 1B (DEPDC1B) exerts the tumor promoter in
            hepatocellular carcinoma through activating p53 signaling pathway
            via kinesin family member 23 (KIF23)
  JOURNAL   Bioengineered 13 (1), 1103-1114 (2022)
   PUBMED   34983303
  REMARK    GeneRIF: DEP domain containing 1B (DEPDC1B) exerts the tumor
            promoter in hepatocellular carcinoma through activating p53
            signaling pathway via kinesin family member 23 (KIF23).
REFERENCE   6  (residues 1 to 766)
  AUTHORS   Boman AL, Kuai J, Zhu X, Chen J, Kuriyama R and Kahn RA.
  TITLE     Arf proteins bind to mitotic kinesin-like protein 1 (MKLP1) in a
            GTP-dependent fashion
  JOURNAL   Cell Motil Cytoskeleton 44 (2), 119-132 (1999)
   PUBMED   10506747
REFERENCE   7  (residues 1 to 766)
  AUTHORS   Deavours BE and Walker RA.
  TITLE     Nuclear localization of C-terminal domains of the kinesin-like
            protein MKLP-1
  JOURNAL   Biochem Biophys Res Commun 260 (3), 605-608 (1999)
   PUBMED   10403813
REFERENCE   8  (residues 1 to 766)
  AUTHORS   Lee KS, Yuan YL, Kuriyama R and Erikson RL.
  TITLE     Plk is an M-phase-specific protein kinase and interacts with a
            kinesin-like protein, CHO1/MKLP-1
  JOURNAL   Mol Cell Biol 15 (12), 7143-7151 (1995)
   PUBMED   8524282
REFERENCE   9  (residues 1 to 766)
  AUTHORS   Lind L, Sandstrom H, Wahlin A, Eriksson M, Nilsson-Sojka B,
            Sikstrom C and Holmgren G.
  TITLE     Localization of the gene for congenital dyserythropoietic anemia
            type III, CDAN3, to chromosome 15q21-q25
  JOURNAL   Hum Mol Genet 4 (1), 109-112 (1995)
   PUBMED   7711721
REFERENCE   10 (residues 1 to 766)
  AUTHORS   Nislow C, Lombillo VA, Kuriyama R and McIntosh JR.
  TITLE     A plus-end-directed motor enzyme that moves antiparallel
            microtubules in vitro localizes to the interzone of mitotic
            spindles
  JOURNAL   Nature 359 (6395), 543-547 (1992)
   PUBMED   1406973
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK308322.1, AC027237.8,
            BG939827.1 and AA291944.1.
            
            Summary: The protein encoded by this gene is a member of
            kinesin-like protein family. This family includes
            microtubule-dependent molecular motors that transport organelles
            within cells and move chromosomes during cell division. This
            protein has been shown to cross-bridge antiparallel microtubules
            and drive microtubule movement in vitro. Alternate splicing of this
            gene results in multiple transcript variants. [provided by RefSeq,
            Jul 2013].
            
            Transcript Variant: This variant (3) differs in the 5' UTR,
            initiates translation at an alternate start codon, and has multiple
            differences in the coding region compared to variant 1. The
            resulting protein (isoform 3) has a distinct N-terminus and is
            shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK308322.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2149004
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..766
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q23"
     Protein         1..766
                     /product="kinesin-like protein KIF23 isoform 3"
                     /note="kinesin-like 5 (mitotic kinesin-like protein 1);
                     kinesin-like protein KIF23; congenital dyserythropoietic
                     anemia, type III"
                     /calculated_mol_wt=88557
     Region          <106..324
                     /region_name="Motor_domain"
                     /note="Myosin and Kinesin motor domain; cl22853"
                     /db_xref="CDD:451428"
     Region          <374..>567
                     /region_name="PRK03918"
                     /note="DNA double-strand break repair ATPase Rad50"
                     /db_xref="CDD:235175"
     Region          <683..712
                     /region_name="MKLP1_Arf_bdg"
                     /note="Arf6-interacting domain of mitotic kinesin-like
                     protein 1; pfam16540"
                     /db_xref="CDD:435410"
     CDS             1..766
                     /gene="KIF23"
                     /gene_synonym="CDA3; CDAIII; CDAN3; CDAN3A; CHO1; KNSL5;
                     MKLP-1; MKLP1"
                     /coded_by="NM_001281301.2:311..2611"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:9493"
                     /db_xref="HGNC:HGNC:6392"
                     /db_xref="MIM:605064"
ORIGIN      
        1 metirrlsih lnkylaltpp rrnslmlwli pwsmtsfmak mvfksndrns mdiqcevdal
       61 lerqkreamp npktssskrq vdpefadmit vqefckaeev dedsvygvfv syieiynnyi
      121 ydlleevpfd pikpkppqsk llredknhnm yvagctevev ksteeafevf wrgqkkrria
      181 nthlnressr shsvfniklv qapldadgdn vlqekeqiti sqlslvdlag sertnrtrae
      241 gnrlreagni nqslmtlrtc mdvlrenqmy gtnkmvpyrd sklthlfkny fdgegkvrmi
      301 vcvnpkaedy eenlqvmrfa evtqevevar pvdkaicglt pgrryrnqpr gpvgneplvt
      361 dvvlqsfppl psceildind eqtlprliea lekrhnlrqm midefnkqsn afkallqefd
      421 navlskenhm qgklnekekm isgqkleier lekknktley kieilekttt iyeedkrnlq
      481 qeletqnqkl qrqfsdkrrl earlqgmvte ttmkwekece rrvaakqlem qnklwvkdek
      541 lkqlkaivte pktekperps rerdrekvtq rsvspspvpl ssnyiaqisn gqqlmsqpql
      601 hrrsnscssi svascisewe qkiptyntpl kvtsiarrrq qepgqsktci vsdrrrgmyw
      661 tegrevvptf rneieieedh cgrgdiyktr gggqsvqftd ietlkqespn gsrkrrsstv
      721 apaqpdgaes ewtdvetrcs vavemragsq lgpgyqhhaq pkrkkp
//
LOCUS       NP_001339673             919 aa            linear   PRI 17-APR-2023
DEFINITION  focal adhesion kinase 1 isoform 37 [Homo sapiens].
ACCESSION   NP_001339673 XP_016869178
VERSION     NP_001339673.1
DBSOURCE    REFSEQ: accession NM_001352744.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 919)
  AUTHORS   Zhang J, Li W, Wang W, Chen Q, Xu Z, Deng M, Zhou L and He G.
  TITLE     Dual roles of FAK in tumor angiogenesis: A review focused on
            pericyte FAK
  JOURNAL   Eur J Pharmacol 947, 175694 (2023)
   PUBMED   36967077
  REMARK    GeneRIF: Dual roles of FAK in tumor angiogenesis: A review focused
            on pericyte FAK.
            Review article
REFERENCE   2  (residues 1 to 919)
  AUTHORS   Akhade VS, Liu T, Docking TR, Jiang J, Gopal A and Karsan A.
  TITLE     Control of focal adhesion kinase activation by RUNX1-regulated
            miRNAs in high-risk AML
  JOURNAL   Leukemia 37 (4), 776-787 (2023)
   PUBMED   36788336
  REMARK    GeneRIF: Control of focal adhesion kinase activation by
            RUNX1-regulated miRNAs in high-risk AML.
REFERENCE   3  (residues 1 to 919)
  AUTHORS   Zhang Y, He B, Zhang D, Zhang Y, Chen C, Zhang W, Yang S, Yao M,
            Cui G, Gu J, Wang T, Lin Z, Fan Y, Xiong Z and Hao Y.
  TITLE     FAK-mediated phosphorylation at Y464 regulates p85beta nuclear
            translocation to promote tumorigenesis of ccRCC by repressing RB1
            expression
  JOURNAL   Cell Rep 42 (3), 112188 (2023)
   PUBMED   36857183
  REMARK    GeneRIF: FAK-mediated phosphorylation at Y464 regulates p85beta
            nuclear translocation to promote tumorigenesis of ccRCC by
            repressing RB1 expression.
REFERENCE   4  (residues 1 to 919)
  AUTHORS   Zhang J, Gelman IH, Qu J and Hochwald SN.
  TITLE     Phosphohistidine signaling promotes FAK-RB1 interaction and growth
            factor-independent proliferation of esophageal squamous cell
            carcinoma
  JOURNAL   Oncogene 42 (6), 449-460 (2023)
   PUBMED   36513743
  REMARK    GeneRIF: Phosphohistidine signaling promotes FAK-RB1 interaction
            and growth factor-independent proliferation of esophageal squamous
            cell carcinoma.
REFERENCE   5  (residues 1 to 919)
  AUTHORS   Rizza S, Di Leo L, Pecorari C, Giglio P, Faienza F, Montagna C,
            Maiani E, Puglia M, Bosisio FM, Petersen TS, Lin L, Rissler V,
            Viloria JS, Luo Y, Papaleo E, De Zio D, Blagoev B and Filomeni G.
  TITLE     GSNOR deficiency promotes tumor growth via FAK1 S-nitrosylation
  JOURNAL   Cell Rep 42 (1), 111997 (2023)
   PUBMED   36656716
  REMARK    GeneRIF: GSNOR deficiency promotes tumor growth via FAK1
            S-nitrosylation.
REFERENCE   6  (residues 1 to 919)
  AUTHORS   Polte TR and Hanks SK.
  TITLE     Interaction between focal adhesion kinase and Crk-associated
            tyrosine kinase substrate p130Cas
  JOURNAL   Proc Natl Acad Sci U S A 92 (23), 10678-10682 (1995)
   PUBMED   7479864
REFERENCE   7  (residues 1 to 919)
  AUTHORS   Guinebault C, Payrastre B, Racaud-Sultan C, Mazarguil H, Breton M,
            Mauco G, Plantavid M and Chap H.
  TITLE     Integrin-dependent translocation of phosphoinositide 3-kinase to
            the cytoskeleton of thrombin-activated platelets involves specific
            interactions of p85 alpha with actin filaments and focal adhesion
            kinase
  JOURNAL   J Cell Biol 129 (3), 831-842 (1995)
   PUBMED   7537275
REFERENCE   8  (residues 1 to 919)
  AUTHORS   Calalb MB, Polte TR and Hanks SK.
  TITLE     Tyrosine phosphorylation of focal adhesion kinase at sites in the
            catalytic domain regulates kinase activity: a role for Src family
            kinases
  JOURNAL   Mol Cell Biol 15 (2), 954-963 (1995)
   PUBMED   7529876
REFERENCE   9  (residues 1 to 919)
  AUTHORS   Bergman M, Joukov V, Virtanen I and Alitalo K.
  TITLE     Overexpressed Csk tyrosine kinase is localized in focal adhesions,
            causes reorganization of alpha v beta 5 integrin, and interferes
            with HeLa cell spreading
  JOURNAL   Mol Cell Biol 15 (2), 711-722 (1995)
   PUBMED   7529872
REFERENCE   10 (residues 1 to 919)
  AUTHORS   Schaller MD, Hildebrand JD, Shannon JD, Fox JW, Vines RR and
            Parsons JT.
  TITLE     Autophosphorylation of the focal adhesion kinase, pp125FAK, directs
            SH2-dependent binding of pp60src
  JOURNAL   Mol Cell Biol 14 (3), 1680-1688 (1994)
   PUBMED   7509446
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC100860.2, AC105009.13,
            AC105235.7 and AC067931.16.
            On Jun 21, 2017 this sequence version replaced XP_016869178.1.
            
            Summary: This gene encodes a cytoplasmic protein tyrosine kinase
            which is found concentrated in the focal adhesions that form
            between cells growing in the presence of extracellular matrix
            constituents. The encoded protein is a member of the FAK subfamily
            of protein tyrosine kinases but lacks significant sequence
            similarity to kinases from other subfamilies. Activation of this
            gene may be an important early step in cell growth and
            intracellular signal transduction pathways triggered in response to
            certain neural peptides or to cell interactions with the
            extracellular matrix. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jun 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..919
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..919
                     /product="focal adhesion kinase 1 isoform 37"
                     /EC_number="2.7.10.2"
                     /note="focal adhesion kinase 1; FAK-related non-kinase
                     polypeptide; focal adhesion kinase-related nonkinase;
                     protein phosphatase 1 regulatory subunit 71; PTK2 protein
                     tyrosine kinase 2"
                     /calculated_mol_wt=104028
     Region          <9..145
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          141..215
                     /region_name="FERM_C_FAK1"
                     /note="FERM domain C-lobe of Focal Adhesion Kinase 1 and
                     2; cd13190"
                     /db_xref="CDD:270011"
     Site            192..203
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Region          279..548
                     /region_name="PTKc_FAK"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Focal Adhesion Kinase; cd05056"
                     /db_xref="CDD:133187"
     Site            order(292..296,300,316,318,335,348,363..366,369..370,410,
                     414..415,417,428,445..449,458,492)
                     /site_type="active"
                     /db_xref="CDD:133187"
     Site            order(292..296,300,316,318,335,348,363..366,369..370,
                     414..415,417,428)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133187"
     Site            order(410,414,445..449,458,492)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133187"
     Site            427..451
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133187"
     Site            order(458..462,496,500,525)
                     /site_type="other"
                     /note="FERM domain interface [polypeptide binding]"
                     /db_xref="CDD:133187"
     Region          783..912
                     /region_name="Focal_AT"
                     /note="Focal adhesion targeting region; pfam03623"
                     /db_xref="CDD:427406"
     CDS             1..919
                     /gene="PTK2"
                     /gene_synonym="FADK; FADK 1; FAK; FAK1; FRNK; p125FAK;
                     pp125FAK; PPP1R71"
                     /coded_by="NM_001352744.2:363..3122"
                     /note="isoform 37 is encoded by transcript variant 55"
                     /db_xref="GeneID:5747"
                     /db_xref="HGNC:HGNC:9611"
                     /db_xref="MIM:600758"
ORIGIN      
        1 memllmsgye lrirylpkgf lnqftedkpt lnffyqqvks dymleiadqv dqeialklgc
       61 leirrsywem rgnalekksn yevlekdvgl krffpkslld svkaktlrkl iqqtfrqfan
      121 lnreesilkf feilspvyrf dkecfkcalg sswiisvela igpeegisyl tdkgcnpltv
      181 tapsltiaen madlidgycr lvngtsqsfi irpqkegera lpsipklans ekqgmrthav
      241 svsdeisgde tddyaeiide edtytmpsks ygideardye iqrerielgr cigegqfgdv
      301 hqgiymspen palavaiktc knctsdsvre kflqealtmr qfdhphivkl igvitenpvw
      361 iimelctlge lrsflqvrky sldlaslily ayqlstalay leskrfvhrd iaarnvlvss
      421 ndcvklgdfg lsrymedsty ykaskgklpi kwmapesinf rrftsasdvw mfgvcmweil
      481 mhgvkpfqgv knndvigrie ngerlpmppn cpptlyslmt kcwaydpsrr prftelkaql
      541 stileeekaq qeermrmesr rqatvswdsg gsdeappkps rpgypsprss egfypspqhm
      601 vqtnhyqvsg ypgshgitam agsiypgqas lldqtdswnh rpqeiamwqp nvedstvldl
      661 rgigqvlpth lmeerlirqq qemeedqrwl ekeerflkpd vrlsrgsidr edgslqgpig
      721 nqhiyqpvgk pdpaappkkp prpgapghlg slaslsspad synegvkpwr lqpqeisppp
      781 tanldrsndk vyenvtglvk aviemsskiq pappeeyvpm vkevglalrt llatvdetip
      841 llpasthrei emaqkllnsd lgelinkmkl aqqyvmtslq qeykkqmlta ahalavdakn
      901 lldvidqarl kmlgqtrph
//
LOCUS       NP_009330                750 aa            linear   PRI 17-APR-2023
DEFINITION  signal transducer and activator of transcription 1-alpha/beta
            isoform alpha [Homo sapiens].
ACCESSION   NP_009330
VERSION     NP_009330.1
DBSOURCE    REFSEQ: accession NM_007315.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 750)
  AUTHORS   Staels F, Roosens W, Giovannozzi S, Moens L, Bogaert J,
            Iglesias-Herrero C, Gijsbers R, Bossuyt X, Frans G, Liston A,
            Humblet-Baron S, Meyts I, Van Aelst L and Schrijvers R.
  TITLE     Case report: Myocarditis in congenital STAT1 gain-of function
  JOURNAL   Front Immunol 14, 1095595 (2023)
   PUBMED   37020552
  REMARK    GeneRIF: Case report: Myocarditis in congenital STAT1 gain-of
            function.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 750)
  AUTHORS   Wang Y, Song Q, Huang W, Lin Y, Wang X, Wang C, Willard B, Zhao C,
            Nan J, Holvey-Bates E, Wang Z, Taylor D, Yang J and Stark GR.
  TITLE     A virus-induced conformational switch of STAT1-STAT2 dimers boosts
            antiviral defenses
  JOURNAL   Cell Res 31 (2), 206-218 (2021)
   PUBMED   32759968
REFERENCE   3  (residues 1 to 750)
  AUTHORS   Decker T and Kovarik P.
  TITLE     Serine phosphorylation of STATs
  JOURNAL   Oncogene 19 (21), 2628-2637 (2000)
   PUBMED   10851062
  REMARK    Review article
REFERENCE   4  (residues 1 to 750)
  AUTHORS   Bowman T, Garcia R, Turkson J and Jove R.
  TITLE     STATs in oncogenesis
  JOURNAL   Oncogene 19 (21), 2474-2488 (2000)
   PUBMED   10851046
  REMARK    Review article
REFERENCE   5  (residues 1 to 750)
  AUTHORS   Haddad B, Pabon-Pena CR, Young H and Sun WH.
  TITLE     Assignment1 of STAT1 to human chromosome 2q32 by FISH and radiation
            hybrids
  JOURNAL   Cytogenet Cell Genet 83 (1-2), 58-59 (1998)
   PUBMED   9925928
REFERENCE   6  (residues 1 to 750)
  AUTHORS   Yan R, Qureshi S, Zhong Z, Wen Z and Darnell JE Jr.
  TITLE     The genomic structure of the STAT genes: multiple exons in
            coincident sites in Stat1 and Stat2
  JOURNAL   Nucleic Acids Res 23 (3), 459-463 (1995)
   PUBMED   7885841
REFERENCE   7  (residues 1 to 750)
  AUTHORS   Igarashi K, Garotta G, Ozmen L, Ziemiecki A, Wilks AF, Harpur AG,
            Larner AC and Finbloom DS.
  TITLE     Interferon-gamma induces tyrosine phosphorylation of
            interferon-gamma receptor and regulated association of protein
            tyrosine kinases, Jak1 and Jak2, with its receptor
  JOURNAL   J Biol Chem 269 (20), 14333-14336 (1994)
   PUBMED   7514165
REFERENCE   8  (residues 1 to 750)
  AUTHORS   Shuai K, Horvath CM, Huang LH, Qureshi SA, Cowburn D and Darnell JE
            Jr.
  TITLE     Interferon activation of the transcription factor Stat91 involves
            dimerization through SH2-phosphotyrosyl peptide interactions
  JOURNAL   Cell 76 (5), 821-828 (1994)
   PUBMED   7510216
REFERENCE   9  (residues 1 to 750)
  AUTHORS   Schindler C, Fu XY, Improta T, Aebersold R and Darnell JE Jr.
  TITLE     Proteins of transcription factor ISGF-3: one gene encodes the
            91-and 84-kDa ISGF-3 proteins that are activated by interferon
            alpha
  JOURNAL   Proc Natl Acad Sci U S A 89 (16), 7836-7839 (1992)
   PUBMED   1502203
REFERENCE   10 (residues 1 to 750)
  AUTHORS   Schindler C, Shuai K, Prezioso VR and Darnell JE Jr.
  TITLE     Interferon-dependent tyrosine phosphorylation of a latent
            cytoplasmic transcription factor
  JOURNAL   Science 257 (5071), 809-813 (1992)
   PUBMED   1496401
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CR998778.1, CR749636.1,
            AK315002.1, AK292604.1, CN410740.1, EB385742.1, AI992149.1 and
            BU738296.1.
            
            Summary: The protein encoded by this gene is a member of the STAT
            protein family. In response to cytokines and growth factors, STAT
            family members are phosphorylated by the receptor associated
            kinases, and then form homo- or heterodimers that translocate to
            the cell nucleus where they act as transcription activators. The
            protein encoded by this gene can be activated by various ligands
            including interferon-alpha, interferon-gamma, EGF, PDGF and IL6.
            This protein mediates the expression of a variety of genes, which
            is thought to be important for cell viability in response to
            different cell stimuli and pathogens. The protein plays an
            important role in immune responses to viral, fungal and
            mycobacterial pathogens. Mutations in this gene are associated with
            Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020].
            
            Transcript Variant: This variant (alpha) encodes isoform alpha.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR749636.1, AK315002.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: involved in immune response or antiviral
                                      activity
            MANE Ensembl match     :: ENST00000361099.8/ ENSP00000354394.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..750
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     Protein         1..750
                     /product="signal transducer and activator of transcription
                     1-alpha/beta isoform alpha"
                     /note="transcription factor ISGF-3 components p91/p84;
                     signal transducer and activator of transcription
                     1-alpha/beta; signal transducer and activator of
                     transcription 1, 91kD; signal transducer and activator of
                     transcription 1, 91kDa"
                     /calculated_mol_wt=87204
     Region          2..121
                     /region_name="STAT_int"
                     /note="STAT protein, protein interaction domain;
                     smart00964"
                     /db_xref="CDD:214942"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Site            114
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:28753426; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Region          138..313
                     /region_name="STAT1_CCD"
                     /note="Coiled-coil domain of Signal Transducer and
                     Activator of Transcription 1 (STAT1); cd16851"
                     /db_xref="CDD:341076"
     Site            order(164..165,168..169,172,175..176,179,232,236,239..241,
                     243..244,256..257,259..260,263..264,267,271,274,306,
                     309..311)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:341076"
     Site            175
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:28753426; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Site            order(239..241,243..244,256..257,260,263..264,267,271,274,
                     302,306,309..310)
                     /site_type="other"
                     /note="CCD-DBD interface [polypeptide binding]"
                     /db_xref="CDD:341076"
     Site            296
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:28753426; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Region          317..477
                     /region_name="STAT1_DBD"
                     /note="DNA-binding domain of Signal Transducer and
                     Activator of Transcription 1 (STAT1); cd16845"
                     /db_xref="CDD:341083"
     Site            order(336,340,378,411,413,426..427,459..460,463)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:341083"
     Site            366
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:28753426; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Site            525
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:28753426; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Region          557..707
                     /region_name="SH2_STAT1"
                     /note="Src homology 2 (SH2) domain found in signal
                     transducer and activator of transcription (STAT) 1
                     proteins; cd10372"
                     /db_xref="CDD:198235"
     Site            order(584,602,630,632)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198235"
     Site            order(631,647)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198235"
     Site            637
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:28753426; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Site            order(641..642,706)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:198235"
     Site            665
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:28753426; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Site            701
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by JAK1, JAK2 or TYK2.
                     /evidence=ECO:0000269|PubMed:17561467,
                     ECO:0000269|PubMed:19088846, ECO:0000269|PubMed:21135090,
                     ECO:0000269|PubMed:22065572, ECO:0000269|PubMed:26479788,
                     ECO:0000269|PubMed:27796300, ECO:0000269|PubMed:28753426,
                     ECO:0000269|PubMed:7657660; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Site            708
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by IKKE.
                     /evidence=ECO:0000269|PubMed:22065572; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Region          715..739
                     /region_name="STAT1_TAZ2bind"
                     /note="STAT1 TAZ2 binding domain; pfam12162"
                     /db_xref="CDD:432372"
     Site            724
                     /site_type="other"
                     /note="Required for recruitment of EP300/p300.
                     /evidence=ECO:0000269|PubMed:16257975; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Site            727
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CAMK2 and MAPK14.
                     /evidence=ECO:0000269|PubMed:11972023,
                     ECO:0000269|PubMed:15322115, ECO:0000269|PubMed:16257975,
                     ECO:0000269|PubMed:17897103, ECO:0000269|PubMed:21135090,
                     ECO:0000269|PubMed:22065572, ECO:0000269|PubMed:26479788,
                     ECO:0000269|PubMed:7543024, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P42224.2)"
     Site            745
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by IKKE.
                     /evidence=ECO:0000250|UniProtKB:P42225; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     CDS             1..750
                     /gene="STAT1"
                     /gene_synonym="CANDF7; IMD31A; IMD31B; IMD31C; ISGF-3;
                     STAT91"
                     /coded_by="NM_007315.4:310..2562"
                     /note="isoform alpha is encoded by transcript variant
                     alpha"
                     /db_xref="CCDS:CCDS2309.1"
                     /db_xref="GeneID:6772"
                     /db_xref="HGNC:HGNC:11362"
                     /db_xref="MIM:600555"
ORIGIN      
        1 msqwyelqql dskfleqvhq lyddsfpmei rqylaqwlek qdwehaandv sfatirfhdl
       61 lsqlddqysr fslennfllq hnirkskrnl qdnfqedpiq msmiiysclk eerkilenaq
      121 rfnqaqsgni qstvmldkqk eldskvrnvk dkvmciehei ksledlqdey dfkcktlqnr
      181 ehetngvaks dqkqeqlllk kmylmldnkr kevvhkiiel lnvteltqna lindelvewk
      241 rrqqsacigg ppnacldqlq nwftivaesl qqvrqqlkkl eeleqkytye hdpitknkqv
      301 lwdrtfslfq qliqssfvve rqpcmpthpq rplvlktgvq ftvklrllvk lqelnynlkv
      361 kvlfdkdvne rntvkgfrkf nilgthtkvm nmeestngsl aaefrhlqlk eqknagtrtn
      421 egplivteel hslsfetqlc qpglvidlet tslpvvvisn vsqlpsgwas ilwynmlvae
      481 prnlsffltp pcarwaqlse vlswqfssvt krglnvdqln mlgekllgpn aspdglipwt
      541 rfckenindk nfpfwlwies ilelikkhll plwndgcimg fiskereral lkdqqpgtfl
      601 lrfsessreg aitftwvers qnggepdfha vepytkkels avtfpdiirn ykvmaaenip
      661 enplkylypn idkdhafgky ysrpkeapep meldgpkgtg yiktelisvs evhpsrlqtt
      721 dnllpmspee fdevsrivgs vefdsmmntv
//
LOCUS       NP_001342379             176 aa            linear   PRI 06-SEP-2020
DEFINITION  putative zinc finger protein 487 isoform 4 [Homo sapiens].
ACCESSION   NP_001342379
VERSION     NP_001342379.1
DBSOURCE    REFSEQ: accession NM_001355450.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 176)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief. Bioinformatics 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL450326.30.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.100303.1,
                                           SRR1660805.10733.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..176
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.21"
     Protein         1..176
                     /product="putative zinc finger protein 487 isoform 4"
                     /note="KRAB domain only 1; zinc finger protein 487,
                     pseudogene; KRAB domain only protein 1; putative zinc
                     finger protein 487"
                     /calculated_mol_wt=20138
     Region          127..143
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Site            order(128,130,132,134..135,138..139,142,156,158..160,
                     162..163,167,170)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275370"
     Region          151..170
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     CDS             1..176
                     /gene="ZNF487"
                     /gene_synonym="KRBO1; ZNF487P"
                     /coded_by="NM_001355450.1:243..773"
                     /note="isoform 4 is encoded by transcript variant 7"
                     /db_xref="GeneID:642819"
                     /db_xref="HGNC:HGNC:23488"
ORIGIN      
        1 mmlenyslll svdccidddl mekrqenqdq hlqkvdfvnn ktltmdrngv lgktfsldtn
       61 pilsrkirgn cdssgmnlnn iseliisnrs sfvrnpaecn vrgkfllcmk renpyargkp
      121 leydgngkav sqnedlfrhq yiqtlkqcfe ynqcgkafhe eaacsthkrv cswetl
//
LOCUS       NP_003681                313 aa            linear   PRI 09-DEC-2022
DEFINITION  interferon-inducible double-stranded RNA-dependent protein kinase
            activator A isoform 1 [Homo sapiens].
ACCESSION   NP_003681
VERSION     NP_003681.1
DBSOURCE    REFSEQ: accession NM_003690.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 313)
  AUTHORS   Wei L, Wang W, Yao J, Cui Z, Xu Z, Ding H, Wu X, Wang D, Luo J and
            Ke ZJ.
  TITLE     PACT promotes the metastasis of basal-like breast cancer through
            Rac1 SUMOylation and activation
  JOURNAL   Oncogene 41 (37), 4282-4294 (2022)
   PUBMED   35974143
  REMARK    GeneRIF: PACT promotes the metastasis of basal-like breast cancer
            through Rac1 SUMOylation and activation.
REFERENCE   2  (residues 1 to 313)
  AUTHORS   Vaughn LS, Frederick K, Burnett SB, Sharma N, Bragg DC, Camargos S,
            Cardoso F and Patel RC.
  TITLE     DYT-PRKRA Mutation P222L Enhances PACT's Stimulatory Activity on
            Type I Interferon Induction
  JOURNAL   Biomolecules 12 (5), 713 (2022)
   PUBMED   35625640
  REMARK    GeneRIF: DYT-PRKRA Mutation P222L Enhances PACT's Stimulatory
            Activity on Type I Interferon Induction.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 313)
  AUTHORS   Zheng Y, Deng J, Han L, Zhuang MW, Xu Y, Zhang J, Nan ML, Xiao Y,
            Zhan P, Liu X, Gao C and Wang PH.
  TITLE     SARS-CoV-2 NSP5 and N protein counteract the RIG-I signaling
            pathway by suppressing the formation of stress granules
  JOURNAL   Signal Transduct Target Ther 7 (1), 22 (2022)
   PUBMED   35075101
  REMARK    GeneRIF: SARS-CoV-2 NSP5 and N protein counteract the RIG-I
            signaling pathway by suppressing the formation of stress granules.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 313)
  AUTHORS   Wang F, Zhu L, Xue Q, Tang C, Tang W, Zhang N, Dai C and Chen Z.
  TITLE     Novel lncRNA AL033381.2 Promotes Hepatocellular Carcinoma
            Progression by Upregulating PRKRA Expression
  JOURNAL   Oxid Med Cell Longev 2022, 1125932 (2022)
   PUBMED   35035655
  REMARK    GeneRIF: Novel lncRNA AL033381.2 Promotes Hepatocellular Carcinoma
            Progression by Upregulating PRKRA Expression.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 313)
  AUTHORS   Neault N, O'Reilly S, Baig AT, Plaza-Diaz J, Azimi M, Farooq F,
            Baird SD and MacKenzie A.
  TITLE     High-throughput kinome-RNAi screen identifies protein kinase R
            activator (PACT) as a novel genetic modifier of CUG foci integrity
            in myotonic dystrophy type 1 (DM1)
  JOURNAL   PLoS One 16 (9), e0256276 (2021)
   PUBMED   34520479
  REMARK    GeneRIF: High-throughput kinome-RNAi screen identifies protein
            kinase R activator (PACT) as a novel genetic modifier of CUG foci
            integrity in myotonic dystrophy type 1 (DM1).
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 313)
  AUTHORS   Horng T, Barton GM and Medzhitov R.
  TITLE     TIRAP: an adapter molecule in the Toll signaling pathway
  JOURNAL   Nat Immunol 2 (9), 835-841 (2001)
   PUBMED   11526399
REFERENCE   7  (residues 1 to 313)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   8  (residues 1 to 313)
  AUTHORS   Ito T, Yang M and May WS.
  TITLE     RAX, a cellular activator for double-stranded RNA-dependent protein
            kinase during stress signaling
  JOURNAL   J Biol Chem 274 (22), 15427-15432 (1999)
   PUBMED   10336432
REFERENCE   9  (residues 1 to 313)
  AUTHORS   Patel RC and Sen GC.
  TITLE     PACT, a protein activator of the interferon-induced protein kinase,
            PKR
  JOURNAL   EMBO J 17 (15), 4379-4390 (1998)
   PUBMED   9687506
REFERENCE   10 (residues 1 to 313)
  AUTHORS   Simons A, Melamed-Bessudo C, Wolkowicz R, Sperling J, Sperling R,
            Eisenbach L and Rotter V.
  TITLE     PACT: cloning and characterization of a cellular p53 binding
            protein that interacts with Rb
  JOURNAL   Oncogene 14 (2), 145-155 (1997)
   PUBMED   9010216
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG827125.1, AK290601.1 and
            AC009948.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a protein kinase activated by
            double-stranded RNA which mediates the effects of interferon in
            response to viral infection. Mutations in this gene have been
            associated with dystonia. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.362406.1,
                                           SRR3476690.1174409.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000325748.9/ ENSP00000318176.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.2"
     Protein         1..313
                     /product="interferon-inducible double-stranded
                     RNA-dependent protein kinase activator A isoform 1"
                     /note="protein activator of the interferon-induced protein
                     kinase; PKR-associated protein X; PKR-associating protein
                     X; interferon-inducible double-stranded RNA-dependent
                     protein kinase activator A; protein kinase,
                     interferon-inducible double-stranded RNA-dependent
                     activator"
                     /calculated_mol_wt=34273
     Region          1..103
                     /region_name="Sufficient for self-association and
                     interaction with TARBP2"
                     /note="propagated from UniProtKB/Swiss-Prot (O75569.1)"
     Region          1..21
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75569.1)"
     Site            18
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75569.1)"
     Region          32..102
                     /region_name="DSRM_PRKRA_rpt1"
                     /note="first double-stranded RNA binding motif of protein
                     activator of the interferon-induced protein kinase (PRKRA)
                     and similar proteins; cd19889"
                     /db_xref="CDD:380718"
     Site            order(33..34,36..37,40..41,44..45,52,60..62,64,66,82..85,
                     88)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:380718"
     Region          102..195
                     /region_name="Sufficient for self-association and
                     interaction with TARBP2"
                     /note="propagated from UniProtKB/Swiss-Prot (O75569.1)"
     Region          126..192
                     /region_name="DSRM_PRKRA_rpt2"
                     /note="second double-stranded RNA binding motif of protein
                     activator of the interferon-induced protein kinase (PRKRA)
                     and similar proteins; cd19891"
                     /db_xref="CDD:380720"
     Site            order(126,128..129,132,154..155,157,159,175..178,181)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:380720"
     Site            167
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75569.1)"
     Region          195..313
                     /region_name="Sufficient for self-association and
                     interaction with TARBP2"
                     /note="propagated from UniProtKB/Swiss-Prot (O75569.1)"
     Region          239..310
                     /region_name="DSRM_PRKRA_rpt3"
                     /note="third double-stranded RNA binding motif of protein
                     activator of the interferon-induced protein kinase (PRKRA)
                     and similar proteins; cd19892"
                     /db_xref="CDD:380721"
     Site            order(239..240,242..243,246..247,250..251,258,268..270,
                     272,274,289..292,295)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:380721"
     Site            246
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16982605; propagated from
                     UniProtKB/Swiss-Prot (O75569.1)"
     Site            order(252,263..265,271..273,275,277..279,281..283,
                     285..286,301,304..305,308..310)
                     /site_type="other"
                     /note="Dicer interface [polypeptide binding]"
                     /db_xref="CDD:380721"
     Site            287
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16982605; propagated from
                     UniProtKB/Swiss-Prot (O75569.1)"
     CDS             1..313
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /coded_by="NM_003690.5:146..1087"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2279.1"
                     /db_xref="GeneID:8575"
                     /db_xref="HGNC:HGNC:9438"
                     /db_xref="MIM:603424"
ORIGIN      
        1 msqsrhraea ppleredsgt fslgkmitak pgktpiqvlh eygmktknip vyecersdvq
       61 ihvptftfrv tvgditctge gtskklakhr aaeaainilk anasicfavp dplmpdpskq
      121 pknqlnpigs lqelaihhgw rlpeytlsqe ggpahkreyt ticrlesfme tgkgaskkqa
      181 krnaaekfla kfsnispenh isltnvvghs lgctwhslrn spgekinllk rsllsipntd
      241 yiqllseiak eqgfnityld idelsangqy qclaelstsp itvchgsgis cgnaqsdaah
      301 nalqylkiia erk
//
LOCUS       NP_002330                339 aa            linear   PRI 14-DEC-2022
DEFINITION  lymphocyte-specific protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_002330
VERSION     NP_002330.1
DBSOURCE    REFSEQ: accession NM_002339.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 339)
  AUTHORS   Chen J, Xiao Q, Li X, Liu R, Long X, Liu Z, Xiong H and Li Y.
  TITLE     The correlation of leukocyte-specific protein 1 (LSP1)
            rs3817198(T>C) polymorphism with breast cancer: A meta-analysis
  JOURNAL   Medicine (Baltimore) 101 (45), e31548 (2022)
   PUBMED   36397430
  REMARK    GeneRIF: The correlation of leukocyte-specific protein 1 (LSP1)
            rs3817198(T>C) polymorphism with breast cancer: A meta-analysis.
REFERENCE   2  (residues 1 to 339)
  AUTHORS   Yu R, Zhang J, Zhuo Y, Hong X, Ye J, Tang S and Zhang Y.
  TITLE     Identification of Diagnostic Signatures and Immune Cell
            Infiltration Characteristics in Rheumatoid Arthritis by Integrating
            Bioinformatic Analysis and Machine-Learning Strategies
  JOURNAL   Front Immunol 12, 724934 (2021)
   PUBMED   34691030
  REMARK    GeneRIF: Identification of Diagnostic Signatures and Immune Cell
            Infiltration Characteristics in Rheumatoid Arthritis by Integrating
            Bioinformatic Analysis and Machine-Learning Strategies.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 339)
  AUTHORS   Cong P, Hou HY, Wei W, Zhou Y and Yu XM.
  TITLE     MiR-920 and LSP1 co-regulate the growth and migration of
            glioblastoma cells by modulation of JAK2/STAT5 pathway
  JOURNAL   J Bioenerg Biomembr 52 (5), 311-320 (2020)
   PUBMED   32770294
  REMARK    GeneRIF: MiR-920 and LSP1 co-regulate the growth and migration of
            glioblastoma cells by modulation of JAK2/STAT5 pathway.
REFERENCE   4  (residues 1 to 339)
  AUTHORS   Afzaljavan F, Moezzi A, Vahednia E, Khorshid Shamshiri A, Vakili F,
            Homaei Shandiz F and Pasdar A.
  TITLE     Predictive and prognostic value of LSP1 rs3817198 in sporadic
            breast cancer in northeastern population of Iran
  JOURNAL   Exp Mol Pathol 116, 104514 (2020)
   PUBMED   32738313
  REMARK    GeneRIF: Predictive and prognostic value of LSP1 rs3817198 in
            sporadic breast cancer in northeastern population of Iran.
REFERENCE   5  (residues 1 to 339)
  AUTHORS   Kulkarni R, Jiang S, Birrane G and Prasad A.
  TITLE     Lymphocyte-specific protein 1 (LSP1) regulates bone marrow stromal
            cell antigen 2 (BST-2)-mediated intracellular trafficking of HIV-1
            in dendritic cells
  JOURNAL   FEBS Lett 594 (12), 1947-1959 (2020)
   PUBMED   32279313
  REMARK    GeneRIF: Lymphocyte-specific protein 1 (LSP1) regulates bone marrow
            stromal cell antigen 2 (BST-2)-mediated intracellular trafficking
            of HIV-1 in dendritic cells.
REFERENCE   6  (residues 1 to 339)
  AUTHORS   Li Y, Guerrero A and Howard TH.
  TITLE     The actin-binding protein, lymphocyte-specific protein 1, is
            expressed in human leukocytes and human myeloid and lymphoid cell
            lines
  JOURNAL   J Immunol 155 (7), 3563-3569 (1995)
   PUBMED   7561054
REFERENCE   7  (residues 1 to 339)
  AUTHORS   Misener VL, Hui C, Malapitan IA, Ittel ME, Joyner AL and Jongstra
            J.
  TITLE     Expression of mouse LSP1/S37 isoforms. S37 is expressed in
            embryonic mesenchymal cells
  JOURNAL   J Cell Sci 107 (Pt 12), 3591-3600 (1994)
   PUBMED   7706408
REFERENCE   8  (residues 1 to 339)
  AUTHORS   Kadiyala RK, McIntyre BW and Krensky AM.
  TITLE     Molecular cloning and characterization of WP34, a phosphorylated
            human lymphocyte differentiation and activation antigen
  JOURNAL   Eur J Immunol 20 (11), 2417-2423 (1990)
   PUBMED   2174784
REFERENCE   9  (residues 1 to 339)
  AUTHORS   Jongstra-Bilen J, Young AJ, Chong R and Jongstra J.
  TITLE     Human and mouse LSP1 genes code for highly conserved
            phosphoproteins
  JOURNAL   J Immunol 144 (3), 1104-1110 (1990)
   PUBMED   2295815
REFERENCE   10 (residues 1 to 339)
  AUTHORS   Klein DP, Jongstra-Bilen J, Ogryzlo K, Chong R and Jongstra J.
  TITLE     Lymphocyte-specific Ca2+-binding protein LSP1 is associated with
            the cytoplasmic face of the plasma membrane
  JOURNAL   Mol Cell Biol 9 (7), 3043-3048 (1989)
   PUBMED   2674678
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC051649.21 and BC001785.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes an intracellular F-actin binding
            protein. The protein is expressed in lymphocytes, neutrophils,
            macrophages, and endothelium and may regulate neutrophil motility,
            adhesion to fibrinogen matrix proteins, and transendothelial
            migration. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) contains an alternate exon and
            lacks two exons in the 5' coding region compared to variant 5. The
            resulting protein (isoform 1) has a distinct N-terminus and is
            shorter than isoform 3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC001785.1, SRR1163657.24663.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311604.8/ ENSP00000308383.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..339
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     Protein         1..339
                     /product="lymphocyte-specific protein 1 isoform 1"
                     /note="52 kDa phosphoprotein; lymphocyte-specific antigen
                     WP34; 47 kDa actin binding protein; leufactin (leukocyte
                     F-actin binding protein); leukocyte-specific protein 1;
                     F-actin binding and cytoskeleton associated protein"
                     /calculated_mol_wt=37061
     Region          1..198
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P33241.1)"
     Site            24
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P33241.1)"
     Site            111
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P33241.1)"
     Site            175
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P19973; propagated from
                     UniProtKB/Swiss-Prot (P33241.1)"
     Site            177
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P19973; propagated from
                     UniProtKB/Swiss-Prot (P33241.1)"
     Site            188
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P33241.1)"
     Site            189
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P33241.1)"
     Region          <191..285
                     /region_name="Caldesmon"
                     /note="pfam02029"
                     /db_xref="CDD:426572"
     Site            193
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P33241.1)"
     Site            252
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPKAPK2.
                     /evidence=ECO:0000269|PubMed:17481585,
                     ECO:0007744|PubMed:19367720, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P33241.1)"
     Region          294..315
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P33241.1)"
     Site            327
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P33241.1)"
     CDS             1..339
                     /gene="LSP1"
                     /gene_synonym="pp52; WP34"
                     /coded_by="NM_002339.3:62..1081"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS31334.1"
                     /db_xref="GeneID:4046"
                     /db_xref="HGNC:HGNC:6707"
                     /db_xref="MIM:153432"
ORIGIN      
        1 maeassdpga eereellgpt aqwsvedeee avheqcqher drqlqaqdee ggghvperpk
       61 qemllslkps eapeldedeg fgdwsqrpeq rqqhegaqga ldsgeppqcr spegeqedrp
      121 glhayekeds devhleelsl skegpgpedt vqdnlgaaga eeeqeehqkc qqprtpsplv
      181 legtieqssp plspttklid rteslnrsie ksnsvkksqp dlpiskidqw leqytqaiet
      241 agrtpklarq asielpsmav astksrwetg evqaqsaakt psckdivagd mskkslweqk
      301 ggsktsstik stpsgkrykf vatghgkyek vlveggpap
//
LOCUS       NP_001012414             209 aa            linear   PRI 16-DEC-2022
DEFINITION  putative tripartite motif-containing protein 61 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001012414 XP_373038
VERSION     NP_001012414.1
DBSOURCE    REFSEQ: accession NM_001012414.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 209)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA
            and Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   2  (residues 1 to 209)
  AUTHORS   Huang CJ, Chang JG, Wu SC and Choo KB.
  TITLE     Negative transcriptional modulation and silencing of the bi-exonic
            Rnf35 gene in the preimplantation embryo. Binding of the
            CCAAT-displacement protein/Cux to the untranslated exon 1 sequence
  JOURNAL   J Biol Chem 280 (35), 30681-30688 (2005)
   PUBMED   15994318
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC089393.1 and CN311322.1.
            On Feb 23, 2005 this sequence version replaced XP_373038.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC089393.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..209
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.3"
     Protein         1..209
                     /product="putative tripartite motif-containing protein 61
                     isoform 2"
                     /note="ring finger protein 35; putative tripartite
                     motif-containing protein 61"
                     /calculated_mol_wt=23916
     Region          13..60
                     /region_name="RING-HC_TRIM60-like_C-IV"
                     /note="RING finger, HC subclass, found in tripartite
                     motif-containing proteins TRIM60, TRIM61, TRIM75 and
                     similar proteins; cd16607"
                     /db_xref="CDD:438269"
     Region          95..133
                     /region_name="Bbox_SF"
                     /note="B-box-type zinc finger superfamily; cl00034"
                     /db_xref="CDD:444664"
     CDS             1..209
                     /gene="TRIM61"
                     /gene_synonym="RNF35"
                     /coded_by="NM_001012414.3:603..1232"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS34093.1"
                     /db_xref="GeneID:391712"
                     /db_xref="HGNC:HGNC:24339"
                     /db_xref="MIM:619417"
ORIGIN      
        1 mefvtaladl raeascpicl dylkdpvtis cghnfclsci imswkdlhds fpcpfchfcc
       61 perkfisnpq lgslteiakq lqirskkrkr qeekhvckkh nqvltffcqk dlellcprcs
      121 lstdhqhhcv wpikkaasyh rkkleeynap wkerveliek vitmqtrksl elkkkmesps
      181 vtrlecscti sahfnlrlpg ssdssasgs
//
LOCUS       NP_001243167             232 aa            linear   PRI 17-DEC-2022
DEFINITION  post-GPI attachment to proteins factor 2 isoform 6 [Homo sapiens].
ACCESSION   NP_001243167
VERSION     NP_001243167.1
DBSOURCE    REFSEQ: accession NM_001256238.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 232)
  AUTHORS   Thompson MD, Knaus AA, Barshop BA, Caliebe A, Muhle H, Nguyen TTM,
            Baratang NV, Kinoshita T, Percy ME, Campeau PM, Murakami Y, Cole
            DE, Krawitz PM and Mabry CC.
  TITLE     A post glycosylphosphatidylinositol (GPI) attachment to proteins,
            type 2 (PGAP2) variant identified in Mabry syndrome index cases:
            Molecular genetics of the prototypical inherited GPI disorder
  JOURNAL   Eur J Med Genet 63 (4), 103822 (2020)
   PUBMED   31805394
  REMARK    GeneRIF: A post glycosylphosphatidylinositol (GPI) attachment to
            proteins, type 2 (PGAP2) variant identified in Mabry syndrome index
            cases: Molecular genetics of the prototypical inherited GPI
            disorder.
REFERENCE   2  (residues 1 to 232)
  AUTHORS   Hirata T, Mishra SK, Nakamura S, Saito K, Motooka D, Takada Y,
            Kanzawa N, Murakami Y, Maeda Y, Fujita M, Yamaguchi Y and Kinoshita
            T.
  TITLE     Identification of a Golgi GPI-N-acetylgalactosamine transferase
            with tandem transmembrane regions in the catalytic domain
  JOURNAL   Nat Commun 9 (1), 405 (2018)
   PUBMED   29374258
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 232)
  AUTHORS   Perez Y, Wormser O, Sadaka Y, Birk R, Narkis G and Birk OS.
  TITLE     A Rare Variant in PGAP2 Causes Autosomal Recessive
            Hyperphosphatasia with Mental Retardation Syndrome, with a Mild
            Phenotype in Heterozygous Carriers
  JOURNAL   Biomed Res Int 2017, 3470234 (2017)
   PUBMED   29119105
  REMARK    GeneRIF: A Rare Variant in PGAP2 Causes Autosomal Recessive
            Hyperphosphatasia with Mental Retardation Syndrome, with a Mild
            Phenotype in Heterozygous Carriers.
REFERENCE   4  (residues 1 to 232)
  AUTHORS   Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J,
            Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M,
            Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M,
            Ploski R, Krajewska-Walasek M and Pronicka E.
  TITLE     Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor
            biosynthesis--The phenotype of two patients with novel mutations in
            the PIGN and PGAP2 genes
  JOURNAL   Eur J Paediatr Neurol 20 (3), 462-473 (2016)
   PUBMED   26879448
REFERENCE   5  (residues 1 to 232)
  AUTHORS   Krawitz PM, Murakami Y, Riess A, Hietala M, Kruger U, Zhu N,
            Kinoshita T, Mundlos S, Hecht J, Robinson PN and Horn D.
  TITLE     PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause
            hyperphosphatasia with mental retardation syndrome
  JOURNAL   Am J Hum Genet 92 (4), 584-589 (2013)
   PUBMED   23561847
  REMARK    GeneRIF: PGAP2 mutations, affecting the GPI-anchor-synthesis
            pathway, cause hyperphosphatasia with mental retardation syndrome.
REFERENCE   6  (residues 1 to 232)
  AUTHORS   Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R,
            Schaffer S, Muhammad S, Bak M, Nothen MM, Bennett EP, Maeda Y,
            Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM and Abou Jamra
            R.
  TITLE     Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling
            protein, cause autosomal-recessive intellectual disability
  JOURNAL   Am J Hum Genet 92 (4), 575-583 (2013)
   PUBMED   23561846
  REMARK    GeneRIF: Hypomorphic mutations in PGAP2, encoding a
            GPI-anchor-remodeling protein, cause autosomal-recessive
            intellectual disability.
REFERENCE   7  (residues 1 to 232)
  AUTHORS   Abou Jamra R, Wohlfart S, Zweier M, Uebe S, Priebe L, Ekici A,
            Giesebrecht S, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael
            A, Muhammad S, Nothen MM, Schumacher J and Reis A.
  TITLE     Homozygosity mapping in 64 Syrian consanguineous families with
            non-specific intellectual disability reveals 11 novel loci and high
            heterogeneity
  JOURNAL   Eur J Hum Genet 19 (11), 1161-1166 (2011)
   PUBMED   21629298
REFERENCE   8  (residues 1 to 232)
  AUTHORS   Tashima Y, Taguchi R, Murata C, Ashida H, Kinoshita T and Maeda Y.
  TITLE     PGAP2 is essential for correct processing and stable expression of
            GPI-anchored proteins
  JOURNAL   Mol Biol Cell 17 (3), 1410-1420 (2006)
   PUBMED   16407401
REFERENCE   9  (residues 1 to 232)
  AUTHORS   Lorenzi MV, Castagnino P, Aaronson DC, Lieb DC, Lee CC, Keck CL,
            Popescu NC and Miki T.
  TITLE     Human FRAG1 encodes a novel membrane-spanning protein that
            localizes to chromosome 11p15.5, a region of frequent loss of
            heterozygosity in cancer
  JOURNAL   Genomics 62 (1), 59-66 (1999)
   PUBMED   10585768
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK295202.1, BX379511.2,
            AF159615.1 and AL096753.1.
            
            Summary: The protein encoded by this gene plays a role in the
            maturation of glycosylphosphatidylinositol (GPI) anchors on
            GPI-anchored proteins. Mutations in this gene are associated with
            an autosomal recessive syndrome characterized by hyperphosphatasia
            and intellectual disability. [provided by RefSeq, Jul 2017].
            
            Transcript Variant: This variant (10) differs in the 5' UTR, lacks
            an alternate in-frame exon in the 5' coding region, and uses an
            alternate splice site that causes a frameshift in the 3' coding
            region, compared to variant 1. The encoded isoform (6) has a
            distinct C-terminus and is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX379511.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..232
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..232
                     /product="post-GPI attachment to proteins factor 2 isoform
                     6"
                     /note="FGF receptor activating protein 1; cell wall
                     biogenesis 43 N-terminal homolog; post-GPI attachment to
                     proteins factor 2"
                     /calculated_mol_wt=25703
     Region          18..>178
                     /region_name="Frag1"
                     /note="Frag1/DRAM/Sfk1 family; pfam10277"
                     /db_xref="CDD:431193"
     Site            24..44
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHJ9.2)"
     Site            115..135
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHJ9.2)"
     Site            144..164
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHJ9.2)"
     CDS             1..232
                     /gene="PGAP2"
                     /gene_synonym="CWH43-N; FRAG1; HPMRS3; MRT17; MRT21"
                     /coded_by="NM_001256238.1:111..809"
                     /note="isoform 6 is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS58113.1"
                     /db_xref="GeneID:27315"
                     /db_xref="HGNC:HGNC:17893"
                     /db_xref="MIM:615187"
ORIGIN      
        1 myqvplpldr dgtlvrlrft mvalvtvccp lvaflfcilw sllfhfkett athcgvpnyl
       61 psvssaigge vpqryvwrfc iglhsaprfl vafaywnhyl sctspcscyr plcrlnfgln
      121 vvenlallvl tyvsssedft ihenafivfi asslghmllt cilwrltkkh tvsqevrsip
      181 sggskaaqkk ikdicpqdsg sqvlqletaa lhhqlhllll gagcllsaqh vl
//
LOCUS       NP_001356809             376 aa            linear   PRI 17-DEC-2022
DEFINITION  1-acyl-sn-glycerol-3-phosphate acyltransferase gamma isoform 1
            [Homo sapiens].
ACCESSION   NP_001356809 XP_016883899
VERSION     NP_001356809.1
DBSOURCE    REFSEQ: accession NM_001369880.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 376)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 376)
  AUTHORS   Lemaitre RN, Tanaka T, Tang W, Manichaikul A, Foy M, Kabagambe EK,
            Nettleton JA, King IB, Weng LC, Bhattacharya S, Bandinelli S, Bis
            JC, Rich SS, Jacobs DR Jr, Cherubini A, McKnight B, Liang S, Gu X,
            Rice K, Laurie CC, Lumley T, Browning BL, Psaty BM, Chen YD,
            Friedlander Y, Djousse L, Wu JH, Siscovick DS, Uitterlinden AG,
            Arnett DK, Ferrucci L, Fornage M, Tsai MY, Mozaffarian D and
            Steffen LM.
  TITLE     Genetic loci associated with plasma phospholipid n-3 fatty acids: a
            meta-analysis of genome-wide association studies from the CHARGE
            Consortium
  JOURNAL   PLoS Genet 7 (7), e1002193 (2011)
   PUBMED   21829377
REFERENCE   3  (residues 1 to 376)
  AUTHORS   Prasad SS, Garg A and Agarwal AK.
  TITLE     Enzymatic activities of the human AGPAT isoform 3 and isoform 5:
            localization of AGPAT5 to mitochondria
  JOURNAL   J Lipid Res 52 (3), 451-462 (2011)
   PUBMED   21173190
  REMARK    GeneRIF: enzymatic properties, tissue distribution, and subcellular
            localization of human AGPAT3 and AGPAT5
REFERENCE   4  (residues 1 to 376)
  AUTHORS   Schmidt JA, Yvone GM and Brown WJ.
  TITLE     Membrane topology of human AGPAT3 (LPAAT3)
  JOURNAL   Biochem Biophys Res Commun 397 (4), 661-667 (2010)
   PUBMED   20537980
  REMARK    GeneRIF: The data is consistent with a structural arrangement in
            which motif I is located in the cytoplasm and motif II is in the
            endoplasmic reticulum and Golgi lumen, suggesting a different model
            for AGPAT3/LPAAT3's enzymatic mechanism.
REFERENCE   5  (residues 1 to 376)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   6  (residues 1 to 376)
  AUTHORS   Agarwal AK, Barnes RI and Garg A.
  TITLE     Functional characterization of human 1-acylglycerol-3-phosphate
            acyltransferase isoform 8: cloning, tissue distribution, gene
            structure, and enzymatic activity
  JOURNAL   Arch Biochem Biophys 449 (1-2), 64-76 (2006)
   PUBMED   16620771
  REMARK    GeneRIF: Of the two well conserved acyltransferase motifs, NHX(4)D
            is present in AGPAT8, whereas arginine in the EGTR motif is
            substituted by aspartate.
REFERENCE   7  (residues 1 to 376)
  AUTHORS   Lu B, Jiang YJ, Zhou Y, Xu FY, Hatch GM and Choy PC.
  TITLE     Cloning and characterization of murine 1-acyl-sn-glycerol
            3-phosphate acyltransferases and their regulation by PPARalpha in
            murine heart
  JOURNAL   Biochem J 385 (Pt 2), 469-477 (2005)
   PUBMED   15367102
REFERENCE   8  (residues 1 to 376)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   9  (residues 1 to 376)
  AUTHORS   Wistow G, Bernstein SL, Ray S, Wyatt MK, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human iris for the NEIBank
            Project: steroid-response factors and similarities with retinal
            pigment epithelium
  JOURNAL   Mol Vis 8, 185-195 (2002)
   PUBMED   12107412
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 376)
  AUTHORS   Leung DW.
  TITLE     The structure and functions of human lysophosphatidic acid
            acyltransferases
  JOURNAL   Front Biosci 6, D944-D953 (2001)
   PUBMED   11487472
  REMARK    Review article
            Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001054.1 and AB001523.1.
            On Apr 23, 2019 this sequence version replaced XP_016883899.1.
            
            Summary: The protein encoded by this gene is an acyltransferase
            that converts lysophosphatidic acid into phosphatidic acid, which
            is the second step in the de novo phospholipid biosynthetic
            pathway. The encoded protein may be an integral membrane protein.
            Two transcript variants encoding the same protein have been found
            for this gene. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.239559.1,
                                           SRR1163657.392981.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..376
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..376
                     /product="1-acyl-sn-glycerol-3-phosphate acyltransferase
                     gamma isoform 1"
                     /EC_number="2.3.1.51"
                     /note="1-acyl-sn-glycerol-3-phosphate acyltransferase
                     gamma; 1-AGP acyltransferase 3; lysophosphatidic acid
                     acyltransferase-gamma1; lysophosphatidic acid
                     acyltransferase gamma; lysophospholipid acyltransferase 3"
                     /calculated_mol_wt=43250
     Region          17..325
                     /region_name="PLN02380"
                     /note="1-acyl-sn-glycerol-3-phosphate acyltransferase"
                     /db_xref="CDD:178006"
     Region          96..101
                     /region_name="HXXXXD motif.
                     /evidence=ECO:0000250|UniProtKB:Q9D517"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRZ7.1)"
     Site            125..145
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRZ7.1)"
     Site            317..339
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRZ7.1)"
     CDS             1..376
                     /gene="AGPAT3"
                     /gene_synonym="1-AGPAT 3; LPAAT-GAMMA1; LPAAT3; LPLAT3"
                     /coded_by="NM_001369880.1:239..1369"
                     /note="isoform 1 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS13703.1"
                     /db_xref="GeneID:56894"
                     /db_xref="HGNC:HGNC:326"
                     /db_xref="MIM:614794"
ORIGIN      
        1 mgllaflktq fvlhllvgfv fvvsglvinf vqlctlalwp vskqlyrrln crlayslwsq
       61 lvmllewwsc tectlftdqa tverfgkeha viilnhnfei dflcgwtmce rfgvlgsskv
      121 lakkellyvp ligwtwyfle ivfckrkwee drdtvveglr rlsdypeymw fllycegtrf
      181 tetkhrvsme vaaakglpvl kyhllprtkg fttavkclrg tvaavydvtl nfrgnknpsl
      241 lgilygkkye admcvrrfpl edipldekea aqwlhklyqe kdalqeiynq kgmfpgeqfk
      301 parrpwtlln flswatills plfsfvlgvf asgspllilt flgfvgaasf gvrrligvte
      361 iekgssygnq efkkke
//
LOCUS       NP_001184254             773 aa            linear   PRI 18-DEC-2022
DEFINITION  aryl hydrocarbon receptor nuclear translocator isoform 4 [Homo
            sapiens].
ACCESSION   NP_001184254
VERSION     NP_001184254.1
DBSOURCE    REFSEQ: accession NM_001197325.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 773)
  AUTHORS   Sun X, Jing L, Li F, Zhang M, Diao X, Zhuang J, Rastinejad F and Wu
            D.
  TITLE     Structures of NPAS4-ARNT and NPAS4-ARNT2 heterodimers reveal new
            dimerization modalities in the bHLH-PAS transcription factor family
  JOURNAL   Proc Natl Acad Sci U S A 119 (46), e2208804119 (2022)
   PUBMED   36343253
  REMARK    GeneRIF: Structures of NPAS4-ARNT and NPAS4-ARNT2 heterodimers
            reveal new dimerization modalities in the bHLH-PAS transcription
            factor family.
REFERENCE   2  (residues 1 to 773)
  AUTHORS   Cooper AM, Nutter CA, Kuyumcu-Martinez MN and Wright CW.
  TITLE     Alternative Splicing of the Aryl Hydrocarbon Receptor Nuclear
            Translocator (ARNT) Is Regulated by RBFOX2 in Lymphoid Malignancies
  JOURNAL   Mol Cell Biol 42 (5), e0050321 (2022)
   PUBMED   35404107
  REMARK    GeneRIF: Alternative Splicing of the Aryl Hydrocarbon Receptor
            Nuclear Translocator (ARNT) Is Regulated by RBFOX2 in Lymphoid
            Malignancies.
REFERENCE   3  (residues 1 to 773)
  AUTHORS   Zhang M, Hu Y, Yang F, Zhang J, Zhang J, Yu W, Wang M, Lv X, Li J,
            Bai T and Chang F.
  TITLE     Interaction between AhR and HIF-1 signaling pathways mediated by
            ARNT/HIF-1beta
  JOURNAL   BMC Pharmacol Toxicol 23 (1), 26 (2022)
   PUBMED   35473600
  REMARK    GeneRIF: Interaction between AhR and HIF-1 signaling pathways
            mediated by ARNT/HIF-1beta.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 773)
  AUTHORS   Scheel J, Hussong R, Schrenk D and Schmitz HJ.
  TITLE     Variability of the human aryl hydrocarbon receptor nuclear
            translocator (ARNT) gene
  JOURNAL   J Hum Genet 47 (5), 217-224 (2002)
   PUBMED   12032587
REFERENCE   5  (residues 1 to 773)
  AUTHORS   Scheel J and Schrenk D.
  TITLE     Genomic structure of the human Ah receptor nuclear translocator
            gene (hARNT)
  JOURNAL   Hum Genet 107 (4), 397-399 (2000)
   PUBMED   11129342
REFERENCE   6  (residues 1 to 773)
  AUTHORS   Salomon-Nguyen F, Della-Valle V, Mauchauffe M, Busson-Le Coniat M,
            Ghysdael J, Berger R and Bernard OA.
  TITLE     The t(1;12)(q21;p13) translocation of human acute myeloblastic
            leukemia results in a TEL-ARNT fusion
  JOURNAL   Proc Natl Acad Sci U S A 97 (12), 6757-6762 (2000)
   PUBMED   10829078
REFERENCE   7  (residues 1 to 773)
  AUTHORS   Yamaguchi Y and Kuo MT.
  TITLE     Functional analysis of aryl hydrocarbon receptor nuclear
            translocator interactions with aryl hydrocarbon receptor in the
            yeast two-hybrid system
  JOURNAL   Biochem Pharmacol 50 (8), 1295-1302 (1995)
   PUBMED   7488247
REFERENCE   8  (residues 1 to 773)
  AUTHORS   Wang GL, Jiang BH, Rue EA and Semenza GL.
  TITLE     Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS
            heterodimer regulated by cellular O2 tension
  JOURNAL   Proc Natl Acad Sci U S A 92 (12), 5510-5514 (1995)
   PUBMED   7539918
REFERENCE   9  (residues 1 to 773)
  AUTHORS   Reyes H, Reisz-Porszasz S and Hankinson O.
  TITLE     Identification of the Ah receptor nuclear translocator protein
            (Arnt) as a component of the DNA binding form of the Ah receptor
  JOURNAL   Science 256 (5060), 1193-1195 (1992)
   PUBMED   1317062
REFERENCE   10 (residues 1 to 773)
  AUTHORS   Hoffman EC, Reyes H, Chu FF, Sander F, Conley LH, Brooks BA and
            Hankinson O.
  TITLE     Cloning of a factor required for activity of the Ah (dioxin)
            receptor
  JOURNAL   Science 252 (5008), 954-958 (1991)
   PUBMED   1852076
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291705.1, AL355860.12 and
            BU730937.1.
            
            Summary: This gene encodes a protein containing a basic
            helix-loop-helix domain and two characteristic PAS domains along
            with a PAC domain. The encoded protein binds to ligand-bound aryl
            hydrocarbon receptor and aids in the movement of this complex to
            the nucleus, where it promotes the expression of genes involved in
            xenobiotic metabolism. This protein is also a co-factor for
            transcriptional regulation by hypoxia-inducible factor 1.
            Chromosomal translocation of this locus with the ETV6 (ets variant
            6) gene on chromosome 12 have been described in leukemias.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Oct 2013].
            
            Transcript Variant: This variant (4) lacks an alternate in-frame
            exon and uses an alternate in-frame splice site, compared to
            variant 1. The encoded isoform (4) is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.657370.1,
                                           SRR14038193.2142992.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..773
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..773
                     /product="aryl hydrocarbon receptor nuclear translocator
                     isoform 4"
                     /note="dioxin receptor, nuclear translocator;
                     hypoxia-inducible factor 1, beta subunit; class E basic
                     helix-loop-helix protein 2; hypoxia inducible factor 1
                     subunit beta"
                     /calculated_mol_wt=84689
     Region          71..135
                     /region_name="bHLH-PAS_ARNT"
                     /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS)
                     domain found in aryl hydrocarbon receptor nuclear
                     translocator (ARNT) and similar proteins; cd18947"
                     /db_xref="CDD:381517"
     Site            order(75..76,79..80,83,86..87,91,112..113)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381517"
     Site            order(90,93,96..97,114,117..118,121,123..125,127)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:381517"
     Region          148..254
                     /region_name="PAS"
                     /note="PAS fold; pfam00989"
                     /db_xref="CDD:395786"
     Region          347..447
                     /region_name="PAS_11"
                     /note="PAS domain; pfam14598"
                     /db_xref="CDD:434060"
     Region          <588..697
                     /region_name="Nucleoporin_FG2"
                     /note="Nucleoporin FG repeated region; pfam15967"
                     /db_xref="CDD:435043"
     CDS             1..773
                     /gene="ARNT"
                     /gene_synonym="bHLHe2; HIF-1-beta; HIF-1beta; HIF1-beta;
                     HIF1B; HIF1BETA; TANGO"
                     /coded_by="NM_001197325.2:33..2354"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:405"
                     /db_xref="HGNC:HGNC:700"
                     /db_xref="MIM:126110"
ORIGIN      
        1 maattanpem tsdvpslgpa iasgnsgpgi qgggaivqra ikrrpgldfd ddgegnskfl
       61 rcdddqmsnd kerfarenhs eierrrrnkm tayitelsdm vptcsalark pdkltilrma
      121 vshmkslrgt gntstdgsyk psfltdqelk hlileaadgf lfivscetgr vvyvsdsvtp
      181 vlnqpqsewf gstlydqvhp ddvdklreql stsenaltgr ildlktgtvk kegqqssmrm
      241 cmgsrrsfic rmrcgsssvd pvsvnrlsfv rnrcrnglgs vkdgephfvv vhctgyikaw
      301 ppagvslpdd dpeagqgskf clvaigrlqv tsspnctdms nvcqptefis rhniegiftf
      361 vdhrcvatvg yqpqellgkn ivefchpedq qllrdsfqqv vklkgqvlsv mfrfrsknqe
      421 wlwmrtssft fqnpysdeie yiictntnvk nssqeprptl sntiqrpqlg ptanlplemg
      481 sgqlaprqqq qqteldmvpg rdglasynhs qvvqpvtttg pehskpleks dglfaqdrdp
      541 rfseiyhnin adqskgisss tvpatqqlfs qgntfpptpr paenfrnsgl appvtivqps
      601 asagqmlaqi srhsnptqga tptwtpttrs gfsaqvatqa taktrtsqfg vgsfqtpssf
      661 ssmslpgapt aspgaaayps ltnrgsnfap etgqtagqfq trtaegvgvw pqwqgqqphh
      721 rsssseqhvq qppaqqpgqp evfqemlsml gdqsnsynne efpdltmfpp fse
//
LOCUS       NP_002570                387 aa            linear   PRI 24-DEC-2022
DEFINITION  paralemmin-1 isoform 1 [Homo sapiens].
ACCESSION   NP_002570
VERSION     NP_002570.2
DBSOURCE    REFSEQ: accession NM_002579.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 387)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 387)
  AUTHORS   Basile M, Lin R, Kabbani N, Karpa K, Kilimann M, Simpson I and
            Kester M.
  TITLE     Paralemmin interacts with D3 dopamine receptors: implications for
            membrane localization and cAMP signaling
  JOURNAL   Arch Biochem Biophys 446 (1), 60-68 (2006)
   PUBMED   16386234
REFERENCE   3  (residues 1 to 387)
  AUTHORS   Gauthier-Campbell C, Bredt DS, Murphy TH and El-Husseini Ael-D.
  TITLE     Regulation of dendritic branching and filopodia formation in
            hippocampal neurons by specific acylated protein motifs
  JOURNAL   Mol Biol Cell 15 (5), 2205-2217 (2004)
   PUBMED   14978216
REFERENCE   4  (residues 1 to 387)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A,
            Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel
            S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA,
            Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J,
            Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M,
            Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W,
            Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V,
            Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready
            P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S,
            Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer
            J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D,
            Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo
            N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS,
            DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA,
            Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM and Lucas
            SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
REFERENCE   5  (residues 1 to 387)
  AUTHORS   Kutzleb C, Sanders G, Yamamoto R, Wang X, Lichte B, Petrasch-Parwez
            E and Kilimann MW.
  TITLE     Paralemmin, a prenyl-palmitoyl-anchored phosphoprotein abundant in
            neurons and implicated in plasma membrane dynamics and cell process
            formation
  JOURNAL   J Cell Biol 143 (3), 795-813 (1998)
   PUBMED   9813098
REFERENCE   6  (residues 1 to 387)
  AUTHORS   Burwinkel B, Miglierini G, Jenne DE, Gilbert DJ, Copeland NG,
            Jenkins NA, Ring HZ, Francke U and Kilimann MW.
  TITLE     Structure of the human paralemmin gene (PALM), mapping to human
            chromosome 19p13.3 and mouse chromosome 10, and exclusion of coding
            mutations in grizzled, mocha, jittery, and hesitant mice
  JOURNAL   Genomics 49 (3), 462-466 (1998)
   PUBMED   9615234
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005763.1, BU508077.1,
            BC032449.1, BP199809.1 and BM667870.1.
            On Apr 21, 2006 this sequence version replaced NP_002570.1.
            
            Summary: This gene encodes a member of the paralemmin protein
            family. The product of this gene is a prenylated and palmitoylated
            phosphoprotein that associates with the cytoplasmic face of plasma
            membranes and is implicated in plasma membrane dynamics in neurons
            and other cell types. Several alternatively spliced transcript
            variants have been identified, but the full-length nature of only
            two transcript variants has been determined. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC032449.1, SRR3476690.240224.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338448.10/ ENSP00000341911.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..387
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..387
                     /product="paralemmin-1 isoform 1"
                     /note="paralemmin-1"
                     /calculated_mol_wt=41945
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O75781.2)"
     Region          19..349
                     /region_name="Paralemmin"
                     /note="pfam03285"
                     /db_xref="CDD:427233"
     Region          31..160
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75781.2)"
     Site            116
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75781.2)"
     Site            124
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75781.2)"
     Site            141
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O75781.2)"
     Site            145
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O75781.2)"
     Site            162
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O75781.2)"
     Site            243
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0P4; propagated from
                     UniProtKB/Swiss-Prot (O75781.2)"
     Site            245
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q920Q0; propagated from
                     UniProtKB/Swiss-Prot (O75781.2)"
     Region          247..296
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75781.2)"
     Region          335..378
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75781.2)"
     Site            346
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0P4; propagated from
                     UniProtKB/Swiss-Prot (O75781.2)"
     Site            367
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0P4; propagated from
                     UniProtKB/Swiss-Prot (O75781.2)"
     Site            369
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0P4; propagated from
                     UniProtKB/Swiss-Prot (O75781.2)"
     Site            384
                     /site_type="methylation"
                     /note="Cysteine methyl ester. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (O75781.2)"
     CDS             1..387
                     /gene="PALM"
                     /gene_synonym="PALM1"
                     /coded_by="NM_002579.3:213..1376"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS32857.1"
                     /db_xref="GeneID:5064"
                     /db_xref="HGNC:HGNC:8594"
                     /db_xref="MIM:608134"
ORIGIN      
        1 mevlaaetts qqerlqaiae krkrqaeien krrqlederr qlqhlkskal rerwllegtp
       61 ssasegdedl rrqmqddeqk trlledsvsr lekeievler gdsapatake naaapspvra
      121 papspakeer ktevvmnsqq tpvgtpkdkr vsntplrtvd gspmmkaamy sveitvekdk
      181 vtgetrvlss ttllprqplp lgikvyedet kvvhavdgta engihplsss evdelihkad
      241 evtlseagst agaaetrgav egaarttpsr reitgvqaqp geatsgppgi qpgqeppvtm
      301 ifmgyqnved eaetkkvlgl qdtitaelvv iedaaepkep appngsaaep pteaasreen
      361 qagpeattsd pqdldmkkhr ckccsim
//
LOCUS       NP_079405                418 aa            linear   PRI 25-DEC-2022
DEFINITION  protein fuzzy homolog isoform 1 [Homo sapiens].
ACCESSION   NP_079405
VERSION     NP_079405.2
DBSOURCE    REFSEQ: accession NM_025129.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 418)
  AUTHORS   Chen ZS, Lin X, Chan TF and Chan HYE.
  TITLE     Pan-cancer investigation reveals mechanistic insights of planar
            cell polarity gene Fuz in carcinogenesis
  JOURNAL   Aging (Albany NY) 13 (5), 7259-7283 (2021)
   PUBMED   33658400
  REMARK    GeneRIF: Pan-cancer investigation reveals mechanistic insights of
            planar cell polarity gene Fuz in carcinogenesis.
REFERENCE   2  (residues 1 to 418)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 418)
  AUTHORS   Chen ZS, Li L, Peng S, Chen FM, Zhang Q, An Y, Lin X, Li W, Koon
            AC, Chan TF, Lau KF, Ngo JCK, Wong WT, Kwan KM and Chan HYE.
  TITLE     Planar cell polarity gene Fuz triggers apoptosis in
            neurodegenerative disease models
  JOURNAL   EMBO Rep 19 (9) (2018)
   PUBMED   30026307
  REMARK    GeneRIF: this study unveils a generic Fuz-mediated apoptotic cell
            death pathway in neurodegenerative disorders.
REFERENCE   4  (residues 1 to 418)
  AUTHORS   He M, Li K, Yu C, Lv B, Zhao N, Deng J, Cao L, Huang H, Yin A, Shi
            T and Wang L.
  TITLE     In vitro study of FUZ as a novel potential therapeutic target in
            non-small-cell lung cancer
  JOURNAL   Life Sci 197, 91-100 (2018)
   PUBMED   29421438
  REMARK    GeneRIF: results in vitro show that FUZ is responsible for
            non-small-cell lung cancer (NSCLC) progression and metastasis,
            suggesting that FUZ can be a potential therapeutic target for
            NSCLC.
REFERENCE   5  (residues 1 to 418)
  AUTHORS   Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler
            JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver
            A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung
            Y, Choi YJ, Duffourd Y, Faivre L, Riviere JB, Chen J, Liu KJ,
            Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK
            and Wallingford JB.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     The ciliopathy-associated CPLANE proteins direct basal body
            recruitment of intraflagellar transport machinery
  JOURNAL   Nat Genet 48 (6), 648-656 (2016)
   PUBMED   27158779
  REMARK    Erratum:[Nat Genet. 2016 Jul 27;48(8):970. PMID: 27463398]
REFERENCE   6  (residues 1 to 418)
  AUTHORS   Seo JH, Zilber Y, Babayeva S, Liu J, Kyriakopoulos P, De Marco P,
            Merello E, Capra V, Gros P and Torban E.
  TITLE     Mutations in the planar cell polarity gene, Fuzzy, are associated
            with neural tube defects in humans
  JOURNAL   Hum Mol Genet 20 (22), 4324-4333 (2011)
   PUBMED   21840926
  REMARK    GeneRIF: Data propose that mutations in Fuzzy may account for a
            subset of neural tube defects in humans.
            Erratum:[Hum Mol Genet. 2015 Jul 1;24(13):3893. PMID: 25954026]
REFERENCE   7  (residues 1 to 418)
  AUTHORS   Heydeck W and Liu A.
  TITLE     PCP effector proteins inturned and fuzzy play nonredundant roles in
            the patterning but not convergent extension of mammalian neural
            tube
  JOURNAL   Dev Dyn 240 (8), 1938-1948 (2011)
   PUBMED   21761479
REFERENCE   8  (residues 1 to 418)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   9  (residues 1 to 418)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   10 (residues 1 to 418)
  AUTHORS   Park TJ, Haigo SL and Wallingford JB.
  TITLE     Ciliogenesis defects in embryos lacking inturned or fuzzy function
            are associated with failure of planar cell polarity and Hedgehog
            signaling
  JOURNAL   Nat Genet 38 (3), 303-311 (2006)
   PUBMED   16493421
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB152506.1, AK315445.1 and
            BU073247.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 15, 2002 this sequence version replaced NP_079405.1.
            
            Summary: This gene encodes a planar cell polarity protein that is
            involved in ciliogenesis and directional cell movement. Knockout
            studies in mice exhibit neural tube defects and defective cilia,
            and mutations in this gene are associated with neural tube defects
            in humans. Alternatively spliced transcript variants have been
            found for this gene. [provided by RefSeq, Jul 2012].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC016793.2, AK315445.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313777.9/ ENSP00000313309.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..418
                     /product="protein fuzzy homolog isoform 1"
                     /note="protein fuzzy homolog; ciliogenesis and planar
                     polarity effector 3; ciliogenesis and planar polarity
                     effector complex subunit 3"
                     /calculated_mol_wt=45548
     Region          12..416
                     /region_name="Fuzzy"
                     /note="protein fuzzy and homologs; cd21091"
                     /db_xref="CDD:411043"
     CDS             1..418
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /coded_by="NM_025129.5:187..1443"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS12781.1"
                     /db_xref="GeneID:80199"
                     /db_xref="HGNC:HGNC:26219"
                     /db_xref="MIM:610622"
ORIGIN      
        1 mgeegtggtv hllclaassg vplfcrssrg gaparqqlpf svigslngvh mfgqnlevql
       61 ssartenttv vwksfhdsit livlssevgi selrlerllq mvfgamvllv gleeltnirn
      121 verlkkdlra syclidsflg dseligdltq cvdcvippeg sllqealsgf aeaagttfvs
      181 lvvsgrvvaa tegwwrlgtp eavllpwlvg slppqtardy pvylphgspt vphrlltltl
      241 lpslelcllc gpspplsqly pqllerwwqp lldplraclp lgpralpsgf plhtdilgll
      301 llhlelkrcl ftveplgdke pspeqrrrll rnfytlvtst hfppepgppe ktedevyqaq
      361 lpracylvlg teepgtgvrl valqlglrrl llllspqspt hglrslatht lhaltpll
//
LOCUS       NP_115513                904 aa            linear   PRI 25-DEC-2022
DEFINITION  uncharacterized protein C3orf20 isoform 1 [Homo sapiens].
ACCESSION   NP_115513
VERSION     NP_115513.4
DBSOURCE    REFSEQ: accession NM_032137.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 904)
  AUTHORS   Nishizawa D, Nagashima M, Kasai S, Hasegawa J, Nakayama K, Ebata Y,
            Fukuda KI, Ichinohe T, Hayashida M and Ikeda K.
  TITLE     Associations between the C3orf20 rs12496846 Polymorphism and Both
            Postoperative Analgesia after Orthognathic and Abdominal Surgeries
            and C3orf20 Gene Expression in the Brain
  JOURNAL   Pharmaceutics 14 (4), 727 (2022)
   PUBMED   35456561
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 904)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB064418.1, AC090957.1 and BC038406.1.
            On May 25, 2010 this sequence version replaced NP_115513.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC038406.1, AL834386.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000253697.8/ ENSP00000253697.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..904
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.1"
     Protein         1..904
                     /product="uncharacterized protein C3orf20 isoform 1"
                     /note="uncharacterized protein C3orf20"
                     /calculated_mol_wt=101136
     Region          247..275
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8ND61.2)"
     Region          328..360
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8ND61.2)"
     Region          361..570
                     /region_name="FAM194"
                     /note="FAM194 protein; pfam14977"
                     /db_xref="CDD:434362"
     Site            778..798
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8ND61.2)"
     CDS             1..904
                     /gene="C3orf20"
                     /coded_by="NM_032137.5:411..3125"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS33706.1"
                     /db_xref="GeneID:84077"
                     /db_xref="HGNC:HGNC:25320"
                     /db_xref="MIM:619992"
ORIGIN      
        1 msyiksnlel yqqytamapk llariskllm icqnagisvp kgirnifeft weelisdpsv
       61 ptpsdilgle vsfgaplvvl meptfvqvpt lkkplppppp apprpvllat tgaakrstls
      121 ptmarqvrth qetlnrfqqq sihlltellr lkmkamvesm svganpldit rrfveasqll
      181 hlnakemafn clistagrsg yssgqlwkes lanmsaigvn spyqliyhss taclsfslsa
      241 gkeakkkigk srttedvsmp plhrgvgtpa nslefsdpcp eareklqelc rhieaeratw
      301 kgrnisypmi lrnykakmps hlmlarkgds qtpglhyppt agaqtlspts hpssanhhfs
      361 qhcqegkapk kafkfhytfy dgssfvyyps gnvavcqipt ccrgrtitcl fndipgfsll
      421 alfntegqgc vhynlktscp yvlildeegg ttndqqgyvv hkwswtsrte tllsleykvn
      481 eemklkvlgq dsitvtftsl netvtltvsa nncphgmayd krlnrrisnm ddkvykmsra
      541 laeikkrfqk tvtqfinsil laaglftiey ptkkeeeefv rfkmrsrthp erlpklslys
      601 gesllrsqsg hlessiaetl kdepesapvs pvrkttkiht kakvtsrgka regrsptrwa
      661 alpsdcplvl rklmlkedtr agckclvkap lvsdvelerf llaprdpsqv lvfgiissqn
      721 ytstgqlqwl lntlynhqqr grgspciqcr ydsyrllqyd ldsplqedpp lmvkknsvvq
      781 gmilmfaggk lifggrvlng yglskqnllk qifrsqqdyk mgyflpddyk fsvpnsvlsl
      841 edsesvkkae sediqgssss laledyveke lsleaektre pevelhplsr dskitswkkq
      901 askk
//
LOCUS       NP_001357374             300 aa            linear   PRI 25-DEC-2022
DEFINITION  nucleoporin NUP42 isoform 4 [Homo sapiens].
ACCESSION   NP_001357374
VERSION     NP_001357374.1
DBSOURCE    REFSEQ: accession NM_001370445.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 300)
  AUTHORS   Schwartz TU.
  TITLE     The Structure Inventory of the Nuclear Pore Complex
  JOURNAL   J Mol Biol 428 (10 Pt A), 1986-2000 (2016)
   PUBMED   27016207
  REMARK    Review article
REFERENCE   2  (residues 1 to 300)
  AUTHORS   Bui KH, von Appen A, DiGuilio AL, Ori A, Sparks L, Mackmull MT,
            Bock T, Hagen W, Andres-Pons A, Glavy JS and Beck M.
  TITLE     Integrated structural analysis of the human nuclear pore complex
            scaffold
  JOURNAL   Cell 155 (6), 1233-1243 (2013)
   PUBMED   24315095
REFERENCE   3  (residues 1 to 300)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   4  (residues 1 to 300)
  AUTHORS   Waldmann I, Spillner C and Kehlenbach RH.
  TITLE     The nucleoporin-like protein NLP1 (hCG1) promotes CRM1-dependent
            nuclear protein export
  JOURNAL   J Cell Sci 125 (Pt 1), 144-154 (2012)
   PUBMED   22250199
  REMARK    GeneRIF: NLP1 functions as an accessory factor in CRM1-dependent
            nuclear protein export
REFERENCE   5  (residues 1 to 300)
  AUTHORS   Joubert BR, Lange EM, Franceschini N, Mwapasa V, North KE and
            Meshnick SR.
  CONSRTM   NIAID Center for HIV/AIDS Vaccine Immunology
  TITLE     A whole genome association study of mother-to-child transmission of
            HIV in Malawi
  JOURNAL   Genome Med 2 (3), 17 (2010)
   PUBMED   20487506
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Erratum:[Genome Med. 2010;2(10):76]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 300)
  AUTHORS   Shiota C, Coffey J, Grimsby J, Grippo JF and Magnuson MA.
  TITLE     Nuclear import of hepatic glucokinase depends upon glucokinase
            regulatory protein, whereas export is due to a nuclear export
            signal sequence in glucokinase
  JOURNAL   J Biol Chem 274 (52), 37125-37130 (1999)
   PUBMED   10601273
REFERENCE   7  (residues 1 to 300)
  AUTHORS   Farjot G, Sergeant A and Mikaelian I.
  TITLE     A new nucleoporin-like protein interacts with both HIV-1 Rev
            nuclear export signal and CRM-1
  JOURNAL   J Biol Chem 274 (24), 17309-17317 (1999)
   PUBMED   10358091
REFERENCE   8  (residues 1 to 300)
  AUTHORS   Katahira J, Strasser K, Podtelejnikov A, Mann M, Jung JU and Hurt
            E.
  TITLE     The Mex67p-mediated nuclear mRNA export pathway is conserved from
            yeast to human
  JOURNAL   EMBO J 18 (9), 2593-2609 (1999)
   PUBMED   10228171
REFERENCE   9  (residues 1 to 300)
  AUTHORS   Fouchier RA, Meyer BE, Simon JH, Fischer U, Albright AV,
            Gonzalez-Scarano F and Malim MH.
  TITLE     Interaction of the human immunodeficiency virus type 1 Vpr protein
            with the nuclear pore complex
  JOURNAL   J Virol 72 (7), 6004-6013 (1998)
   PUBMED   9621063
REFERENCE   10 (residues 1 to 300)
  AUTHORS   Van Laer L, Van Camp G, van Zuijlen D, Green ED, Verstreken M,
            Schatteman I, Van de Heyning P, Balemans W, Coucke P, Greinwald JH,
            Smith RJ, Huizing E and Willems P.
  TITLE     Refined mapping of a gene for autosomal dominant progressive
            sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion
            of a candidate gene that is expressed in the cochlea
  JOURNAL   Eur J Hum Genet 5 (6), 397-405 (1997)
   PUBMED   9450185
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005082.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: CN355613.1, SRR5189661.52652.1
                                    [ECO:0000331]
            RNAseq introns       :: partial sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..300
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.3"
     Protein         1..300
                     /product="nucleoporin NUP42 isoform 4"
                     /note="nucleoporin-like protein 1; H_RG271G13.9;
                     nucleoporin-like protein 2; NUP42 homolog; nucleoporin
                     hCG1; nucleoporin like 2; nucleoporin NUP42"
                     /calculated_mol_wt=31037
     CDS             1..300
                     /gene="NUP42"
                     /gene_synonym="CG1; hCG1; NLP-1; NLP1; NLP_1; NUPL2; UIP1"
                     /coded_by="NM_001370445.1:407..1309"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:11097"
                     /db_xref="HGNC:HGNC:17010"
                     /db_xref="MIM:619998"
ORIGIN      
        1 mevwessgqw mfsvyspvkk kpnisgftdi speelrleyh nfltsnnlqs ylnsvqrlin
       61 qwrnrvnelk slnistkval lsdvkdgvnq aapafgfgss qaatfmspgf pvnnsssdna
      121 qnfsfktnsg faaassgspa gfgsspafga aastssgist sapafgfgkp evtsaasfsf
      181 kspaassfgs pgfsglpasl atgpvrapva pafgggssva gfgspgshsh tafskpssdt
      241 fgnssistsl sasssiiatd nvlftprdkl tveeleqfqs kkftlgkipl kppplellnv
//
LOCUS       NP_001172036             298 aa            linear   PRI 26-DEC-2022
DEFINITION  T-cell surface glycoprotein CD1e, membrane-associated isoform g
            precursor [Homo sapiens].
ACCESSION   NP_001172036
VERSION     NP_001172036.1
DBSOURCE    REFSEQ: accession NM_001185107.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 298)
  AUTHORS   Aureli A, Aboulaghras S, Oumhani K, Del Beato T, Sebastiani P,
            Colanardi A, El Aouad R, Ben El Barhdadi I and Piancatelli D.
  TITLE     CD1 gene polymorphism and susceptibility to celiac disease:
            Association of CD1E*02/02 in Moroccans
  JOURNAL   Hum Immunol 81 (7), 361-365 (2020)
   PUBMED   32467040
  REMARK    GeneRIF: CD1 gene polymorphism and susceptibility to celiac
            disease: Association of CD1E*02/02 in Moroccans.
REFERENCE   2  (residues 1 to 298)
  AUTHORS   Rahman MI, Jahan I, Khalid MM, Jahan I, Ahammad RU, Nahar S and
            Islam Z.
  TITLE     CD1A and CD1E gene polymorphisms are not associated with
            susceptibility to Guillain-Barre syndrome in the Bangladeshi
            population
  JOURNAL   J Neuroimmunol 314, 8-12 (2018)
   PUBMED   29301656
  REMARK    GeneRIF: Single nucleotide polymorphisms in exon 2 of CD1A
            (*01/*02) and CD1E (*01/*02) cannot be recognized as a
            susceptibility or disease-causative factor for Guillain-Barre
            syndrome in the Bangladeshi population
REFERENCE   3  (residues 1 to 298)
  AUTHORS   Maitre B, Angenieux C, Wurtz V, Layre E, Gilleron M, Collmann A,
            Mariotti S, Mori L, Fricker D, Cazenave JP, van Dorsselaer A,
            Gachet C, de Libero G, Puzo G, Hanau D and de la Salle H.
  TITLE     The assembly of CD1e is controlled by an N-terminal propeptide
            which is processed in endosomal compartments
  JOURNAL   Biochem J 419 (3), 661-668 (2009)
   PUBMED   19196239
  REMARK    GeneRIF: CD1e propeptide is conserved during evolution, suggesting
            that it may also optimize the generation of CD1e molecules in other
            species.
REFERENCE   4  (residues 1 to 298)
  AUTHORS   Brigl M and Brenner MB.
  TITLE     CD1: antigen presentation and T cell function
  JOURNAL   Annu Rev Immunol 22, 817-890 (2004)
   PUBMED   15032598
  REMARK    Review article
REFERENCE   5  (residues 1 to 298)
  AUTHORS   Angenieux C, Salamero J, Fricker D, Cazenave JP, Goud B, Hanau D
            and de La Salle H.
  TITLE     Characterization of CD1e, a third type of CD1 molecule expressed in
            dendritic cells
  JOURNAL   J Biol Chem 275 (48), 37757-37764 (2000)
   PUBMED   10948205
REFERENCE   6  (residues 1 to 298)
  AUTHORS   Mirones I, Oteo M, Parra-Cuadrado JF and Martinez-Naves E.
  TITLE     Identification of two novel human CD1E alleles
  JOURNAL   Tissue Antigens 56 (2), 159-161 (2000)
   PUBMED   11019917
REFERENCE   7  (residues 1 to 298)
  AUTHORS   Yu CY and Milstein C.
  TITLE     A physical map linking the five CD1 human thymocyte differentiation
            antigen genes
  JOURNAL   EMBO J 8 (12), 3727-3732 (1989)
   PUBMED   2583117
REFERENCE   8  (residues 1 to 298)
  AUTHORS   Calabi F, Jarvis JM, Martin L and Milstein C.
  TITLE     Two classes of CD1 genes
  JOURNAL   Eur J Immunol 19 (2), 285-292 (1989)
   PUBMED   2467814
REFERENCE   9  (residues 1 to 298)
  AUTHORS   Albertson DG, Fishpool R, Sherrington P, Nacheva E and Milstein C.
  TITLE     Sensitive and high resolution in situ hybridization to human
            chromosomes using biotin labelled probes: assignment of the human
            thymocyte CD1 antigen genes to chromosome 1
  JOURNAL   EMBO J 7 (9), 2801-2805 (1988)
   PUBMED   3053166
REFERENCE   10 (residues 1 to 298)
  AUTHORS   Martin,L.H., Calabi,F. and Milstein,C.
  TITLE     Isolation of CD1 genes: a family of major histocompatibility
            complex-related differentiation antigens
  JOURNAL   Proc Natl Acad Sci U S A 83 (23), 9154-9158 (1986)
   PUBMED   3097645
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC406237.1, BC131693.1,
            AJ289115.1 and AL121986.12.
            
            Summary: This gene encodes a member of the CD1 family of
            transmembrane glycoproteins, which are structurally related to the
            major histocompatibility complex (MHC) proteins and form
            heterodimers with beta-2-microglobulin. The CD1 proteins mediate
            the presentation of primarily lipid and glycolipid antigens of self
            or microbial origin to T cells. The human genome contains five CD1
            family genes organized in a cluster on chromosome 1. The CD1 family
            members are thought to differ in their cellular localization and
            specificity for particular lipid ligands. The protein encoded by
            this gene localizes within Golgi compartments, endosomes, and
            lysosomes, and is cleaved into a stable soluble form. The soluble
            form is required for the intracellular processing of some
            glycolipids into a form that can be presented by other CD1 family
            members. Many alternatively spliced transcript variants encoding
            different isoforms have been described. Additional transcript
            variants have been found; however, their biological validity has
            not been determined. [provided by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (7) is missing a coding exon,
            compared to variant 1. It encodes a protein (isoform g, also known
            as 5) that is shorter when it is compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ289115.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..298
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     Protein         1..298
                     /product="T-cell surface glycoprotein CD1e,
                     membrane-associated isoform g precursor"
                     /note="CD1E antigen, e polypeptide; leukocyte
                     differentiation antigen; differentiation antigen
                     CD1-alpha-3; thymocyte antigen CD1E; T-cell surface
                     glycoprotein CD1e, membrane-associated; R2G1; hCD1e"
                     /calculated_mol_wt=31486
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2085
     mat_peptide     20..298
                     /product="T-cell surface glycoprotein CD1e,
                     membrane-associated isoform g"
                     /calculated_mol_wt=31486
     Region          30..142
                     /region_name="MHC_I"
                     /note="Class I Histocompatibility antigen, domains alpha 1
                     and 2; cl08246"
                     /db_xref="CDD:447588"
     Region          120..211
                     /region_name="IgC1_CD1"
                     /note="Immunoglobulin domain of Cluster of Differentiation
                     (CD) 1; member of the C1-set of Ig superfamily (IgSF)
                     domains; cd21029"
                     /db_xref="CDD:409620"
     Region          120..128
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409620"
     Region          135..145
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409620"
     Site            order(146..148,175,200)
                     /site_type="other"
                     /note="MHC binding domain interface [polypeptide binding]"
                     /db_xref="CDD:409620"
     Region          150..156
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409620"
     Region          158..161
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409620"
     Region          164..172
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409620"
     Region          175..185
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409620"
     Region          192..199
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409620"
     Region          207..210
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409620"
     CDS             1..298
                     /gene="CD1E"
                     /gene_synonym="CD1A; R2"
                     /coded_by="NM_001185107.2:96..992"
                     /note="isoform g precursor is encoded by transcript
                     variant 7"
                     /db_xref="CCDS:CCDS53385.1"
                     /db_xref="GeneID:913"
                     /db_xref="HGNC:HGNC:1638"
                     /db_xref="MIM:188411"
ORIGIN      
        1 mlllfllfeg lccpgentaa pqalqsyhla aeeqlsfrml qtssfanhsw ahsegsgwlg
       61 dlqthgwdtv lgtirflkpw shgnfskqel knlqslfqly fhsfiqivqa sagqfqlelk
      121 peawlscgps pgpgrlqlvc hvsgfypkpv wvmwmrgeqe qrgtqrgdvl pnadetwylr
      181 atldvaagea aglscrvkhs slgghdliih wggysiflil icltvivtlv ilvvvdsrlk
      241 kqssnknils phtpspvflm gantqdtkns rhqfclaqvs wiknrvlkkw ktrlnqlw
//
LOCUS       NP_570924               1910 aa            linear   PRI 26-DEC-2022
DEFINITION  receptor-type tyrosine-protein phosphatase S isoform 2 precursor
            [Homo sapiens].
ACCESSION   NP_570924
VERSION     NP_570924.2
DBSOURCE    REFSEQ: accession NM_130854.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1910)
  AUTHORS   Lertpanprom M, Silsirivanit A, Tippayawat P, Proungvitaya T,
            Roytrakul S and Proungvitaya S.
  TITLE     High expression of protein tyrosine phosphatase receptor S (PTPRS)
            is an independent prognostic marker for cholangiocarcinoma
  JOURNAL   Front Public Health 10, 835914 (2022)
   PUBMED   35991009
  REMARK    GeneRIF: High expression of protein tyrosine phosphatase receptor S
            (PTPRS) is an independent prognostic marker for cholangiocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1910)
  AUTHORS   Gong Y, Abudureyimu S, Kadomatsu K and Sakamoto K.
  TITLE     Identification of PTPRsigma-interacting proteins by
            proximity-labelling assay
  JOURNAL   J Biochem 169 (2), 187-194 (2021)
   PUBMED   33313879
  REMARK    GeneRIF: Identification of PTPRsigma-interacting proteins by
            proximity-labelling assay.
REFERENCE   3  (residues 1 to 1910)
  AUTHORS   Yuan YM, Ma N, Zhang EB, Chen TW, Jiang H, Yin FF, Wang JJ, Zhang
            FK, Ni QZ, Wang X, Bao Y, Wang K, Cheng SQ, Zhang XL, Wang XF, Li
            JJ and Xie D.
  TITLE     BMP10 suppresses hepatocellular carcinoma progression via
            PTPRS-STAT3 axis
  JOURNAL   Oncogene 38 (48), 7281-7293 (2019)
   PUBMED   31417183
  REMARK    GeneRIF: High PTPRS expression is associated with hepatocellular
            carcinoma progression.
REFERENCE   4  (residues 1 to 1910)
  AUTHORS   Zhang G, Liu X, Wu J, Zhu Q, Zeng H, Wang T and Wang R.
  TITLE     Expression and clinical relations of protein tyrosine phosphatase
            receptor type S in esophageal squamous cell carcinoma
  JOURNAL   Histol Histopathol 33 (11), 1181-1188 (2018)
   PUBMED   29745967
  REMARK    GeneRIF: loss of PTPRS expression may predict an aggressive
            clinical course in ESCC patients. PTPRS may function as a tumor
            suppressor and play an important role in esophageal squamous cell
            carcinoma growth and metastasis
REFERENCE   5  (residues 1 to 1910)
  AUTHORS   Davis TB, Yang M, Schell MJ, Wang H, Ma L, Pledger WJ and Yeatman
            TJ.
  TITLE     PTPRS Regulates Colorectal Cancer RAS Pathway Activity by
            Inactivating Erk and Preventing Its Nuclear Translocation
  JOURNAL   Sci Rep 8 (1), 9296 (2018)
   PUBMED   29915291
  REMARK    GeneRIF: PTPRS modulates ERK phosphorylation and subsequent
            translocation to the nucleus.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1910)
  AUTHORS   Norris K, Norris F, Kono DH, Vestergaard H, Pedersen O,
            Theofilopoulos AN and Moller NP.
  TITLE     Expression of protein-tyrosine phosphatases in the major insulin
            target tissues
  JOURNAL   FEBS Lett 415 (3), 243-248 (1997)
   PUBMED   9357975
REFERENCE   7  (residues 1 to 1910)
  AUTHORS   Wagner J, Gordon LA, Heng HH, Tremblay ML and Olsen AS.
  TITLE     Physical mapping of receptor type protein tyrosine phosphatase
            sigma (PTPRS) to human chromosome 19p13.3
  JOURNAL   Genomics 38 (1), 76-78 (1996)
   PUBMED   8954782
REFERENCE   8  (residues 1 to 1910)
  AUTHORS   Endo N, Rutledge SJ, Opas EE, Vogel R, Rodan GA and Schmidt A.
  TITLE     Human protein tyrosine phosphatase-sigma: alternative splicing and
            inhibition by bisphosphonates
  JOURNAL   J Bone Miner Res 11 (4), 535-543 (1996)
   PUBMED   8992885
REFERENCE   9  (residues 1 to 1910)
  AUTHORS   Pulido R, Serra-Pages C, Tang M and Streuli M.
  TITLE     The LAR/PTP delta/PTP sigma subfamily of transmembrane
            protein-tyrosine-phosphatases: multiple human LAR, PTP delta, and
            PTP sigma isoforms are expressed in a tissue-specific manner and
            associate with the LAR-interacting protein LIP.1
  JOURNAL   Proc Natl Acad Sci U S A 92 (25), 11686-11690 (1995)
   PUBMED   8524829
REFERENCE   10 (residues 1 to 1910)
  AUTHORS   Adachi M, Sekiya M, Arimura Y, Takekawa M, Itoh F, Hinoda Y, Imai K
            and Yachi A.
  TITLE     Protein-tyrosine phosphatase expression in pre-B cell NALM-6
  JOURNAL   Cancer Res 52 (3), 737-740 (1992)
   PUBMED   1370651
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005335.1, AB209333.1,
            BC029496.1, BC104812.1, U40317.1, U35234.1, CN413749.1, CN413752.1
            and AC118535.1.
            On May 31, 2006 this sequence version replaced NP_570924.1.
            
            Summary: The protein encoded by this gene is a member of the
            protein tyrosine phosphatase (PTP) family. PTPs are known to be
            signaling molecules that regulate a variety of cellular processes
            including cell growth, differentiation, mitotic cycle, and
            oncogenic transformation. This PTP contains an extracellular
            region, a single transmembrane segment and two tandem
            intracytoplasmic catalytic domains, and thus represents a
            receptor-type PTP. The extracellular region of this protein is
            composed of multiple Ig-like and fibronectin type III-like domains.
            Studies of the similar gene in mice suggested that this PTP may be
            involved in cell-cell interaction, primary axonogenesis, and axon
            guidance during embryogenesis. This PTP has been also implicated in
            the molecular control of adult nerve repair. Four alternatively
            spliced transcript variants, which encode distinct proteins, have
            been reported. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks four internal fragments
            within the coding region when compared to variant 1. The
            translation remains in-frame, and thus results in a protein that
            lacks four internal segments, as compared to isoform 1.
            
            Sequence Note: The transcript 3'UTR sequence was derived from a
            genomic record (AC118535.1) based on a series of overlapping EST
            alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: U40317.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1910
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..1910
                     /product="receptor-type tyrosine-protein phosphatase S
                     isoform 2 precursor"
                     /EC_number="3.1.3.48"
                     /note="protein tyrosine phosphatase PTPsigma;
                     receptor-type tyrosine-protein phosphatase sigma"
                     /calculated_mol_wt=209721
     sig_peptide     1..29
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2783
     mat_peptide     30..1910
                     /product="receptor-type tyrosine-protein phosphatase S
                     isoform 2"
                     /calculated_mol_wt=209721
     Region          33..124
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          50..54
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          63..67
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          86..93
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          104..109
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          117..120
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          137..226
                     /region_name="IgI_2_RPTP_IIa_LAR_like"
                     /note="Second immunoglobulin (Ig)-like domain of the
                     receptor protein tyrosine phosphatase (RPTP)-F; member of
                     the I-set of IgSF domains; cd05738"
                     /db_xref="CDD:409400"
     Region          143..147
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409400"
     Region          150..159
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409400"
     Region          164..170
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409400"
     Region          172..174
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409400"
     Region          183..187
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409400"
     Region          190..195
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409400"
     Region          204..211
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409400"
     Region          214..225
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409400"
     Region          235..316
                     /region_name="IgI_3_RPTP_IIa_LAR_like"
                     /note="Third immunoglobulin (Ig)-like domain of the
                     receptor protein tyrosine phosphatase (RPTP)-F (also known
                     as LAR), type IIa; member of the I-set of IgSF domains;
                     cd05739"
                     /db_xref="CDD:409401"
     Region          235..237
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409401"
     Region          241..245
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409401"
     Region          248..256
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409401"
     Region          261..267
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409401"
     Region          269..271
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409401"
     Region          274..278
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409401"
     Region          283..288
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409401"
     Region          295..302
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409401"
     Region          306..315
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409401"
     Region          319..408
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(319,381,396)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(397..398,400..401)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          415..507
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(496..497,499..500)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          512..600
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(512,573,588)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(589..590,592..593)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          608..702
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(691..692,694..695)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          710..806
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(795..796,798..799)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          816..898
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(891..892,894..895)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          910..1007
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(996..997,999..1000)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1015..>1075
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Region          1332..1613
                     /region_name="R-PTPc-S-1"
                     /note="catalytic domain of receptor-type tyrosine-protein
                     phosphatase S, repeat 1; cd14625"
                     /db_xref="CDD:350473"
     Region          1615..1904
                     /region_name="R-PTP-S-2"
                     /note="PTP-like domain of receptor-type tyrosine-protein
                     phosphatase S, repeat 2; cd14627"
                     /db_xref="CDD:350475"
     CDS             1..1910
                     /gene="PTPRS"
                     /gene_synonym="PTPSIGMA; R-PTP-S; R-PTP-sigma"
                     /coded_by="NM_130854.3:244..5976"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS12140.1"
                     /db_xref="GeneID:5802"
                     /db_xref="HGNC:HGNC:9681"
                     /db_xref="MIM:601576"
ORIGIN      
        1 maptwgpgmv svvgpmgllv vllvggcaae epprfikepk dqigvsggva sfvcqatgdp
       61 kprvtwnkkg kkvnsqrfet iefdesagav lriqplrtpr denvyecvaq nsvgeitvha
      121 kltvlredql psgfpnidmg pqlkvvertr tatmlcaasg npdpeitwfk dflpvdpsas
      181 ngrikqlrsg alqiesseet dqgkyecvat nsagvryssp anlyvrvrrv aprfsilpms
      241 heimpggnvn itcvavgspm pyvkwmqgae dltpeddmpv grnvleltdv kdsanytcva
      301 msslgvieav aqitvkslpk apgtpmvten tatsititwd sgnpdpvsyy vieyksksqd
      361 gpyqikedit ttrysiggls pnseyeiwvs avnsigqgpp sesvvtrtge qapasaprnv
      421 qarmlsattm ivqweepvep nglirgyrvy ytmepehpvg nwqkhnvdds llttvgslle
      481 detytvrvla ftsvgdgpls dpiqvktqqg vpgqpmnlra earsetsitl swspprqesi
      541 ikyellfreg dhgrevgrtf dpttsyvved lkpnteyafr laarspqglg aftpvvrqrt
      601 lqskpsappq dvkcvsvrst ailvswrppp pethngalvg ysvryrplgs edpepkevng
      661 ipptttqill ealekwtqyr ittvahtevg pgpesspvvv rtdedvpsap prkveaealn
      721 atairvlwrs papgrqhgqi rgyqvhyvrm egaeargppr ikdvmladaq emvitnlqpe
      781 taysitvaay tmkgdgarsk pkvvvtkgav lgrptlsvqq tpegsllarw eppagtaedq
      841 vlgyrlqfgr edstplatle fppsedryta sgvhkgatyv frlaarsrgg lgeeaaevls
      901 ipedtprghp qileaagnas agtvllrwlp pvpaerngai vkytvavrea galgparete
      961 lpaaaepgae naltlqglkp dtaydlqvra htrrgpgpfs ppvryrtflr dqvspknfkv
     1021 kmimktsvll swefpdnyns ptpykiqyng ltldvdgrtt kklithlkph tfynfvltnr
     1081 gsslgglqqt vtawtafnll ngkpsvapkp dadgfimvyl pdgqspvpvq syfivmvplr
     1141 ksrggqfltp lgspedmdle eliqdisrlq rrslrhsrql evprpyiaar fsvlpptfhp
     1201 gdqkqyggfd nrglepghry vlfvlavlqk septfaaspf sdpfqldnpd pqpivdgeeg
     1261 liwvigpvla vvfiicivia illyknkpds krkdseprtk cllnnadlap hhpkdpvemr
     1321 rinfqtpgml shppipiadm aehterlkan dslklsqeye sidpgqqftw ehsnlevnkp
     1381 knryanviay dhsrvilqpi egimgsdyin anyvdgyrcq nayiatqgpl petfgdfwrm
     1441 vweqrsativ mmtrleeksr ikcdqywpnr gtetygfiqv tlldtielat fcvrtfslhk
     1501 ngssekrevr qfqftawpdh gvpeyptpfl aflrrvktcn ppdagpivvh csagvgrtgc
     1561 fividamler ikpektvdvy ghvtlmrsqr nymvqtedqy sfiheallea vgcgntevpa
     1621 rslyayiqkl aqvepgehvt gmelefkrla nskahtsrfi sanlpcnkfk nrlvnimpye
     1681 strvclqpir gvegsdyina sfidgyrqqk ayiatqgpla ettedfwrml wennstivvm
     1741 ltklremgre kchqywpaer saryqyfvvd pmaeynmpqy ilrefkvtda rdgqsrtvrq
     1801 fqftdwpeqg vpksgegfid figqvhktke qfgqdgpisv hcsagvgrtg vfitlsivle
     1861 rmryegvvdi fqtvkmlrtq rpamvqtede yqfcyqaale ylgsfdhyat
//
LOCUS       NP_940896                526 aa            linear   PRI 26-DEC-2022
DEFINITION  zinc finger protein 69 homolog isoform 2 [Homo sapiens].
ACCESSION   NP_940896 XP_290953
VERSION     NP_940896.2
DBSOURCE    REFSEQ: accession NM_198494.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 526)
  AUTHORS   Scherneck S, Nestler M, Vogel H, Bluher M, Block MD, Berriel Diaz
            M, Herzig S, Schulz N, Teichert M, Tischer S, Al-Hasani H, Kluge R,
            Schurmann A and Joost HG.
  TITLE     Positional cloning of zinc finger domain transcription factor
            Zfp69, a candidate gene for obesity-associated diabetes contributed
            by mouse locus Nidd/SJL
  JOURNAL   PLoS Genet 5 (7), e1000541 (2009)
   PUBMED   19578398
  REMARK    GeneRIF: Zfp69 is the most likely candidate for the diabetogenic
            effect of Nidd/SJL locus.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL603839.9, DA687888.1, CV374692.1, CX871163.1 and BM677727.1.
            On Apr 20, 2006 this sequence version replaced NP_940896.1.
            
            Transcript Variant: This variant (3) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 1. It
            encodes isoform 2, which is shorter than isoform 1 by a single
            amino acid. Variants 2 and 3 encode the same isoform (2).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.235681.1,
                                           SRR1803613.278732.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..526
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..526
                     /product="zinc finger protein 69 homolog isoform 2"
                     /note="zinc finger protein 642; ZFP69 zinc finger protein
                     A; zinc finger protein ZFP69; zinc finger protein 69
                     homolog"
                     /calculated_mol_wt=61050
     Region          <3..66
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Region          76..136
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          <232..515
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          273..293
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(273,276,289,293)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(278,280,282,284..285,288..289,292,306,308,312..313,
                     316..317,320,334,336,338,340..341,344..345,348)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          301..321
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          329..349
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          357..377
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          385..405
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          413..433
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          441..461
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          497..517
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..526
                     /gene="ZFP69"
                     /gene_synonym="ZFP69A; ZKSCAN23A; ZNF642; ZSCAN54A"
                     /coded_by="NM_198494.3:635..2215"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS30686.1"
                     /db_xref="GeneID:339559"
                     /db_xref="HGNC:HGNC:24708"
                     /db_xref="MIM:617939"
ORIGIN      
        1 mpqqllitlp teastwvklq hpkkavegap lwedvtkmfe geallsqdae dvktqresle
       61 devtpglpta esqelltfkd isidftqeew gqlapahqnl yrevmlenys nlvsvgyqls
      121 kpsvisqlek geepwmaeke gpgdpssdlk skietiesta kstisqerly hgimmesfmr
      181 ddiiystlrk vstyddvler hqetcmrdvr qailthkkrv qetnkfgeni ivhsnviieq
      241 rhhkydtptk rntykldlin hptsyirtkt yecnicekif kqpihltehm rihtgekpfr
      301 ckecgrafsq saslsthqri htgekpfece ecgkafrhrs slnqhhrtht gekpyvcdkc
      361 qkafsqnisl vqhlrthsge kpftcnecgk tfrqirhlse hirihtgekp yactaccktf
      421 shraylthhq rihtgerpyk ckecgkafrq rihlsnhktv htgvkayecn rcgkayrhds
      481 sfkkhqrhht gekpyecnec gkafsynssl srhheihrrn afrnkv
//
LOCUS       NP_001278709             271 aa            linear   PRI 26-DEC-2022
DEFINITION  RNA-binding protein 38 isoform c [Homo sapiens].
ACCESSION   NP_001278709 XP_005260502
VERSION     NP_001278709.1
DBSOURCE    REFSEQ: accession NM_001291780.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 271)
  AUTHORS   Zhang X, Zhang X, Jia Q, Li H, Ma R, Yang G, Yin F, Jiang N and Yin
            D.
  TITLE     LncRNA CALML3-AS1 suppresses papillary thyroid cancer progression
            via sponging miR-20a-5p/RBM38 axis
  JOURNAL   BMC Cancer 22 (1), 344 (2022)
   PUBMED   35351042
  REMARK    GeneRIF: LncRNA CALML3-AS1 suppresses papillary thyroid cancer
            progression via sponging miR-20a-5p/RBM38 axis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 271)
  AUTHORS   Zhang YP, Gao D and Wu P.
  TITLE     [RBM38 Mediates the Proliferation of Acute Myeloid Leukemia Cells
            HL-60 by Regulating FZD1 mRNA Stability]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 29 (6), 1775-1779 (2021)
   PUBMED   34893109
  REMARK    GeneRIF: [RBM38 Mediates the Proliferation of Acute Myeloid
            Leukemia Cells HL-60 by Regulating FZD1 mRNA Stability].
REFERENCE   3  (residues 1 to 271)
  AUTHORS   Li Y, Shi Y, He Y, Li X and Yang J.
  TITLE     RNA binding Motif protein-38 regulates myocardial hypertrophy in
            LXR-alpha-dependent lipogenesis pathway
  JOURNAL   Bioengineered 12 (2), 9655-9667 (2021)
   PUBMED   34854353
  REMARK    GeneRIF: RNA binding Motif protein-38 regulates myocardial
            hypertrophy in LXR-alpha-dependent lipogenesis pathway.
REFERENCE   4  (residues 1 to 271)
  AUTHORS   Guan B, Li G, Wan B, Guo X, Huang D, Ma J, Gong P, Guo J and Bu Y.
  TITLE     RNA-binding protein RBM38 inhibits colorectal cancer progression by
            partly and competitively binding to PTEN 3'UTR with miR-92a-3p
  JOURNAL   Environ Toxicol 36 (12), 2436-2447 (2021)
   PUBMED   34453780
  REMARK    GeneRIF: RNA-binding protein RBM38 inhibits colorectal cancer
            progression by partly and competitively binding to PTEN 3'UTR with
            miR-92a-3p.
REFERENCE   5  (residues 1 to 271)
  AUTHORS   Ji CM, Zhang X, Fang W, Meng L, Wei X and Lu C.
  TITLE     RNA-binding protein RNPC1 acts as an oncogene in gastric cancer by
            stabilizing aurora kinase B mRNA
  JOURNAL   Exp Cell Res 406 (1), 112741 (2021)
   PUBMED   34302858
  REMARK    GeneRIF: RNA-binding protein RNPC1 acts as an oncogene in gastric
            cancer by stabilizing aurora kinase B mRNA.
REFERENCE   6  (residues 1 to 271)
  AUTHORS   Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura
            Y and Kamatani N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   7  (residues 1 to 271)
  AUTHORS   Miyamoto S, Hidaka K, Jin D and Morisaki T.
  TITLE     RNA-binding proteins Rbm38 and Rbm24 regulate myogenic
            differentiation via p21-dependent and -independent regulatory
            pathways
  JOURNAL   Genes Cells 14 (11), 1241-1252 (2009)
   PUBMED   19817877
  REMARK    GeneRIF: it was found that this protein Rbm38 regulates myogenic
            differentiation via the p21 signal pathway.
REFERENCE   8  (residues 1 to 271)
  AUTHORS   Warzecha CC, Sato TK, Nabet B, Hogenesch JB and Carstens RP.
  TITLE     ESRP1 and ESRP2 are epithelial cell-type-specific regulators of
            FGFR2 splicing
  JOURNAL   Mol Cell 33 (5), 591-601 (2009)
   PUBMED   19285943
REFERENCE   9  (residues 1 to 271)
  AUTHORS   Shu L, Yan W and Chen X.
  TITLE     RNPC1, an RNA-binding protein and a target of the p53 family, is
            required for maintaining the stability of the basal and
            stress-induced p21 transcript
  JOURNAL   Genes Dev 20 (21), 2961-2972 (2006)
   PUBMED   17050675
  REMARK    GeneRIF: RNPC1a is required to maintain the stability of p21
            transcript induced by p53.
REFERENCE   10 (residues 1 to 271)
  AUTHORS   Krackhardt AM, Witzens M, Harig S, Hodi FS, Zauls AJ, Chessia M,
            Barrett P and Gribben JG.
  TITLE     Identification of tumor-associated antigens in chronic lymphocytic
            leukemia by SEREX
  JOURNAL   Blood 100 (6), 2123-2131 (2002)
   PUBMED   12200376
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL109955.38.
            On Apr 26, 2014 this sequence version replaced XP_005260502.1.
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (c).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.529709.1,
                                           DRR138524.254110.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..271
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.31"
     Protein         1..271
                     /product="RNA-binding protein 38 isoform c"
                     /note="RNA-binding region (RNP1, RRM) containing 1;
                     CLL-associated antigen KW-5; RNA-binding protein 38;
                     ssDNA-binding protein SEB4; RNA-binding region-containing
                     protein 1"
                     /calculated_mol_wt=28805
     Region          34..141
                     /region_name="RRM_RBM24_RBM38_like"
                     /note="RNA recognition motif (RRM) found in eukaryotic
                     RNA-binding protein RBM24, RBM38 and similar proteins;
                     cd12384"
                     /db_xref="CDD:409818"
     Region          <46..269
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     CDS             1..271
                     /gene="RBM38"
                     /gene_synonym="dJ800J21.2; HSRNASEB; RNPC1; SEB4B; SEB4D"
                     /coded_by="NM_001291780.2:187..1002"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="GeneID:55544"
                     /db_xref="HGNC:HGNC:15818"
                     /db_xref="MIM:612428"
ORIGIN      
        1 mllqpapcap sagfprplaa pgamhgsqkd ttftkifvgg lpyhttdasl rkyfegfgdi
       61 eeavvitdrq tgksrgygfg iifvleghis qalnfdgrsw npggifvgep qvtmadraaa
      121 erackdpnpi idgrkanvnl aylgakprsl qtgfaigvqq lhptliqrty gltphyiypp
      181 aivqpsvvip aapvpslssp yieytpaspa yaqyppatyd qypyaaspat aasfvgysyp
      241 aavpqalsaa apagttfvqy qapqlqpdrm q
//
LOCUS       NP_001333008             350 aa            linear   PRI 26-DEC-2022
DEFINITION  tumor protein p53-inducible protein 13 isoform c precursor [Homo
            sapiens].
ACCESSION   NP_001333008
VERSION     NP_001333008.1
DBSOURCE    REFSEQ: accession NM_001346079.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 350)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 350)
  AUTHORS   Hata T, Ogawa T, Yokoyama TA, Fukushige S, Horii A and Furukawa T.
  TITLE     DSCP1, a novel TP53-inducible gene, is upregulated by strong
            genotoxic stresses and its overexpression inhibits tumor cell
            growth in vitro
  JOURNAL   Int J Oncol 24 (3), 513-520 (2004)
   PUBMED   14767535
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104564.11.
            
            Transcript Variant: This variant (4) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (c) has the same
            N- and C-termini but is shorter compared to isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968540,
                              SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..350
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     Protein         1..350
                     /product="tumor protein p53-inducible protein 13 isoform c
                     precursor"
                     /note="damage-stimulated cytoplasmic protein 1"
                     /calculated_mol_wt=34657
     sig_peptide     1..27
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2754
     CDS             1..350
                     /gene="TP53I13"
                     /gene_synonym="DSCP1"
                     /coded_by="NM_001346079.2:59..1111"
                     /note="isoform c precursor is encoded by transcript
                     variant 4"
                     /db_xref="GeneID:90313"
                     /db_xref="HGNC:HGNC:25102"
ORIGIN      
        1 mappppspql lllaalarll gpsevmagpa eeagahcpes lwplppqvsp rvtytrvspg
       61 qplvltawgl alemawvepa waahwlmrrr rrkqrkkkaw iyceslsgpa pseptpgrgr
      121 lcrrgcvqal alafalrswr ppgtevtsqg prqpsssgak rrrlraalgp qptrsalrfp
      181 saspgslkak qsmagipgre snapsvptvs llpgapggna ssrteaqvpn gqgspggcvc
      241 ssqaspapra aappraargp tprteeaawa amaltfllvl ltlatlctrl hrnfrrgesi
      301 ywgptadsqd tvaavlkrrl lqpsrrvkrs rrrpllpptp dsgpegesse
//
LOCUS       NP_001342                295 aa            linear   PRI 27-DEC-2022
DEFINITION  deleted in azoospermia-like isoform 2 [Homo sapiens].
ACCESSION   NP_001342
VERSION     NP_001342.2
DBSOURCE    REFSEQ: accession NM_001351.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 295)
  AUTHORS   Yan A, Xiong J, Zhu J, Li X, Xu S, Feng X, Ke X, Wang Z, Chen Y,
            Wang HW, Zhang MQ and Kee K.
  TITLE     DAZL regulates proliferation of human primordial germ cells by
            direct binding to precursor miRNAs and enhances DICER processing
            activity
  JOURNAL   Nucleic Acids Res 50 (19), 11255-11272 (2022)
   PUBMED   36273819
  REMARK    GeneRIF: DAZL regulates proliferation of human primordial germ
            cells by direct binding to precursor miRNAs and enhances DICER
            processing activity.
REFERENCE   2  (residues 1 to 295)
  AUTHORS   Zhang W, Chen W, Cui Y, Wen L, Yuan Q, Zhou F, Qiu Q, Sun M, Li Z
            and He Z.
  TITLE     Direct reprogramming of human Sertoli cells into male germline stem
            cells with the self-renewal and differentiation potentials via
            overexpressing DAZL/DAZ2/BOULE genes
  JOURNAL   Stem Cell Reports 16 (11), 2798-2812 (2021)
   PUBMED   34653405
  REMARK    GeneRIF: Direct reprogramming of human Sertoli cells into male
            germline stem cells with the self-renewal and differentiation
            potentials via overexpressing DAZL/DAZ2/BOULE genes.
REFERENCE   3  (residues 1 to 295)
  AUTHORS   Altakroni B, Nevin C, Carroll M, Murgatroyd C, Horne G, Brison DR
            and Povey AC.
  TITLE     The marker of alkyl DNA base damage, N7-methylguanine, is
            associated with semen quality in men
  JOURNAL   Sci Rep 11 (1), 3121 (2021)
   PUBMED   33542261
  REMARK    GeneRIF: The marker of alkyl DNA base damage, N7-methylguanine, is
            associated with semen quality in men.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 295)
  AUTHORS   Zhang F, Liu R, Zhang H, Liu C, Liu C and Lu Y.
  TITLE     Suppressing Dazl modulates tumorigenicity and stemness in human
            glioblastoma cells
  JOURNAL   BMC Cancer 20 (1), 673 (2020)
   PUBMED   32682409
  REMARK    GeneRIF: Suppressing Dazl modulates tumorigenicity and stemness in
            human glioblastoma cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 295)
  AUTHORS   Nailwal M and Chauhan JB.
  TITLE     In silico analysis of non-synonymous single nucleotide
            polymorphisms in human DAZL gene associated with male infertility
  JOURNAL   Syst Biol Reprod Med 63 (4), 248-258 (2017)
   PUBMED   28388287
  REMARK    GeneRIF: computational analysis of free energy change due to this
            point mutation using GROMOS96 indicated decreased stability of the
            DAZL protein. The N109T variant in an infertile male population may
            provide a genetic marker for mutational analysis of DAZL
REFERENCE   6  (residues 1 to 295)
  AUTHORS   Chai NN, Phillips A, Fernandez A and Yen PH.
  TITLE     A putative human male infertility gene DAZLA: genomic structure and
            methylation status
  JOURNAL   Mol Hum Reprod 3 (8), 705-708 (1997)
   PUBMED   9294855
REFERENCE   7  (residues 1 to 295)
  AUTHORS   Seboun E, Barbaux S, Bourgeron T, Nishi S, Agulnik A, Egashira M,
            Nikkawa N, Bishop C, Fellous M, McElreavey K and Kasahara M.
  TITLE     Gene sequence, localization, and evolutionary conservation of
            DAZLA, a candidate male sterility gene
  JOURNAL   Genomics 41 (2), 227-235 (1997)
   PUBMED   9143498
  REMARK    Erratum:[Genomics 1997 Oct 15;45(2):477. Algonik A [corrected to
            Agulnik A]]
REFERENCE   8  (residues 1 to 295)
  AUTHORS   Yen PH, Chai NN and Salido EC.
  TITLE     The human autosomal gene DAZLA: testis specificity and a candidate
            for male infertility
  JOURNAL   Hum Mol Genet 5 (12), 2013-2017 (1996)
   PUBMED   8968756
REFERENCE   9  (residues 1 to 295)
  AUTHORS   Shan Z, Hirschmann P, Seebacher T, Edelmann A, Jauch A, Morell J,
            Urbitsch P and Vogt PH.
  TITLE     A SPGY copy homologous to the mouse gene Dazla and the Drosophila
            gene boule is autosomal and expressed only in the human male gonad
  JOURNAL   Hum Mol Genet 5 (12), 2005-2011 (1996)
   PUBMED   8968755
REFERENCE   10 (residues 1 to 295)
  AUTHORS   Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP,
            Reijo R, Rozen S, Dinulos MB, Disteche CM and Page DC.
  TITLE     The DAZ gene cluster on the human Y chromosome arose from an
            autosomal gene that was transposed, repeatedly amplified and pruned
  JOURNAL   Nat Genet 14 (3), 292-299 (1996)
   PUBMED   8896558
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB080081.1, BC027595.2 and
            BX648638.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 19, 2002 this sequence version replaced NP_001342.1.
            
            Summary: The DAZ (Deleted in AZoospermia) gene family encodes
            potential RNA binding proteins that are expressed in prenatal and
            postnatal germ cells of males and females. The protein encoded by
            this gene is localized to the nucleus and cytoplasm of fetal germ
            cells and to the cytoplasm of developing oocytes. In the testis,
            this protein is localized to the nucleus of spermatogonia but
            relocates to the cytoplasm during meiosis where it persists in
            spermatids and spermatozoa. Transposition and amplification of this
            autosomal gene during primate evolution gave rise to the DAZ gene
            cluster on the Y chromosome. Mutations in this gene have been
            linked to severe spermatogenic failure and infertility in males.
            Two transcript variants encoding different isoforms have been found
            for this gene. [provided by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (2)
            has a shorter and distinct N-terminus compared to isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HM005617.1, U66726.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000399444.7/ ENSP00000382373.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..295
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.3"
     Protein         1..295
                     /product="deleted in azoospermia-like isoform 2"
                     /note="spermatogenesis gene on the Y-like autosomal;
                     germline specific RNA binding protein; DAZ homolog;
                     DAZ-like autosomal; SPGY-like-autosomal; deleted in
                     azoospermia-like 1; testis secretory sperm-binding protein
                     Li 204a"
                     /calculated_mol_wt=33047
     Region          1..25
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92904.1)"
     Region          35..116
                     /region_name="RRM_DAZL"
                     /note="RNA recognition motif (RRM) found in vertebrate
                     deleted in azoospermia-like (DAZL) proteins; cd12672"
                     /db_xref="CDD:410073"
     Site            order(38,41,43,70..73,75,79..82,84,109..116)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410073"
     Region          <40..208
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     Site            order(53..54,57,73,75..78)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:410073"
     Region          80..132
                     /region_name="Homodimerization. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92904.1)"
     Site            276
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q64368; propagated from
                     UniProtKB/Swiss-Prot (Q92904.1)"
     CDS             1..295
                     /gene="DAZL"
                     /gene_synonym="DAZH; DAZL1; DAZLA; SPGYLA"
                     /coded_by="NM_001351.4:219..1106"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS43059.1"
                     /db_xref="GeneID:1618"
                     /db_xref="HGNC:HGNC:2685"
                     /db_xref="MIM:601486"
ORIGIN      
        1 mstanpetpn stisreastq sssaatsqgy ilpegkimpn tvfvggidvr mdeteirsff
       61 arygsvkevk iitdrtgvsk gygfvsffnd vdvqkivesq infhgkklkl gpairkqnlc
      121 ayhvqprplv fnhppppqfq nvwtnpntet ymqptttmnp itqyvqaypt ypnspvqvit
      181 gyqlpvynyq mppqwpvgeq rsyvvppays avnyhcnevd pgaevvpnec svheatppsg
      241 ngpqkksvdr siqtvvsclf npenrlrnsv vtqddyfkdk rvhhfrrsra mlksv
//
LOCUS       NP_001337441             195 aa            linear   PRI 27-DEC-2022
DEFINITION  protein disulfide-isomerase TMX3 isoform 2 precursor [Homo
            sapiens].
ACCESSION   NP_001337441
VERSION     NP_001337441.1
DBSOURCE    REFSEQ: accession NM_001350512.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 195)
  AUTHORS   Zhang X, Gibhardt CS, Will T, Stanisz H, Korbel C, Mitkovski M,
            Stejerean I, Cappello S, Pacheu-Grau D, Dudek J, Tahbaz N, Mina L,
            Simmen T, Laschke MW, Menger MD, Schon MP, Helms V, Niemeyer BA,
            Rehling P, Vultur A and Bogeski I.
  TITLE     Redox signals at the ER-mitochondria interface control melanoma
            progression
  JOURNAL   EMBO J 38 (15), e100871 (2019)
   PUBMED   31304984
  REMARK    GeneRIF: Data show that TMX3 expression is upregulated in melanoma
            cell lines and patient samples. TMX knockdown altered mitochondrial
            organization, enhanced bioenergetics, and elevated mitochondrial-
            and NOX4-derived ROS. The TMX-knockdown-induced oxidative stress
            suppressed melanoma proliferation, migration, and xenograft tumor
            growth by inhibiting NFAT1. TMX1 is associated with poor disease
            outcome.
REFERENCE   2  (residues 1 to 195)
  AUTHORS   Yang L, Neale BM, Liu L, Lee SH, Wray NR, Ji N, Li H, Qian Q, Wang
            D, Li J, Faraone SV and Wang Y.
  CONSRTM   Psychiatric GWAS Consortium: ADHD Subgroup
  TITLE     Polygenic transmission and complex neuro developmental network for
            attention deficit hyperactivity disorder: genome-wide association
            study of both common and rare variants
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 162B (5), 419-430 (2013)
   PUBMED   23728934
REFERENCE   3  (residues 1 to 195)
  AUTHORS   Galligan JJ and Petersen DR.
  TITLE     The human protein disulfide isomerase gene family
  JOURNAL   Hum Genomics 6 (1), 6 (2012)
   PUBMED   23245351
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 195)
  AUTHORS   Chao R, Nevin L, Agarwal P, Riemer J, Bai X, Delaney A, Akana M,
            JimenezLopez N, Bardakjian T, Schneider A, Chassaing N, Schorderet
            DF, FitzPatrick D, Kwok PY, Ellgaard L, Gould DB, Zhang Y, Malicki
            J, Baier H and Slavotinek A.
  TITLE     A male with unilateral microphthalmia reveals a role for TMX3 in
            eye development
  JOURNAL   PLoS One 5 (5), e10565 (2010)
   PUBMED   20485507
  REMARK    GeneRIF: Haploinsufficiency for TMX3 results in a small eye
            phenotype and represents a novel genetic cause of microphthalmia
            and coloboma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 195)
  AUTHORS   Holbrook LM, Watkins NA, Simmonds AD, Jones CI, Ouwehand WH and
            Gibbins JM.
  TITLE     Platelets release novel thiol isomerase enzymes which are recruited
            to the cell surface following activation
  JOURNAL   Br J Haematol 148 (4), 627-637 (2010)
   PUBMED   19995400
REFERENCE   6  (residues 1 to 195)
  AUTHORS   Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G,
            Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK,
            Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek
            WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT,
            McManus R, van Heel DA and Wijmenga C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 195)
  AUTHORS   Haugstetter J, Maurer MA, Blicher T, Pagac M, Wider G and Ellgaard
            L.
  TITLE     Structure-function analysis of the endoplasmic reticulum
            oxidoreductase TMX3 reveals interdomain stabilization of the
            N-terminal redox-active domain
  JOURNAL   J Biol Chem 282 (46), 33859-33867 (2007)
   PUBMED   17881353
  REMARK    GeneRIF: analysis of TMX3 interdomain stabilization of the
            N-terminal redox-active domain
REFERENCE   8  (residues 1 to 195)
  AUTHORS   Haugstetter J, Blicher T and Ellgaard L.
  TITLE     Identification and characterization of a novel thioredoxin-related
            transmembrane protein of the endoplasmic reticulum
  JOURNAL   J Biol Chem 280 (9), 8371-8380 (2005)
   PUBMED   15623505
  REMARK    GeneRIF: TMX3 is a thioredoxin-related transmembrane protein of the
            endoplasmic reticulum
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK310389.1 and BC032325.2.
            
            Summary: This gene encodes a member of the disulfide isomerase
            (PDI) family of endoplasmic reticulum (ER) proteins that catalyze
            protein folding and thiol-disulfide interchange reactions. The
            canonical protein encoded by this gene has an N-terminal ER-signal
            sequence, a catalytically active thioredoxin domain, one
            transmembrane domain and a C-terminal ER-retention sequence. This
            gene is expressed in many tissues but has its highest expression in
            heart and skeletal muscle. It is expressed in the retinal
            neuroepithelium and lens epithelium in the developing murine eye
            and haploinsufficiency of this gene in humans and zebrafish is
            associated with microphthalmia. Alternative splicing results in
            multiple transcript variants encoding distinct isoforms. [provided
            by RefSeq, Apr 2017].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC032325.2, SRR1163655.497893.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467150 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..195
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q22.1"
     Protein         1..195
                     /product="protein disulfide-isomerase TMX3 isoform 2
                     precursor"
                     /EC_number="5.3.4.1"
                     /note="protein disulfide isomerase family A, member 13;
                     thioredoxin domain containing 10; protein
                     disulfide-isomerase TMX3; thioredoxin domain-containing
                     protein 10"
                     /calculated_mol_wt=19642
     sig_peptide     1..24
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96JJ7.2)"
                     /calculated_mol_wt=2667
     Region          27..130
                     /region_name="PDI_a_TMX3"
                     /note="PDIa family, TMX3 subfamily; composed of eukaryotic
                     proteins similar to human TMX3, a TRX related
                     transmembrane protein containing one redox active TRX
                     domain at the N-terminus and a classical ER retrieval
                     sequence for type I transmembrane proteins at...; cd03000"
                     /db_xref="CDD:239298"
     Site            order(53,56,117)
                     /site_type="active"
                     /note="catalytic residues [active]"
                     /db_xref="CDD:239298"
     CDS             1..195
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /coded_by="NM_001350512.2:128..715"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS86680.1"
                     /db_xref="GeneID:54495"
                     /db_xref="HGNC:HGNC:24718"
                     /db_xref="MIM:616102"
ORIGIN      
        1 maawkswtal rlcatvvvld mvvckgfved ldesfkenrn ddiwlvdfya pwcghckkle
       61 piwnevglem ksigspvkvg kmdatsyssi asefgvrgyp tikllkgdla ynyrgprtkd
      121 diiefahrvs galirplpsq qmfehmqkrh rvffvyvgge splkekyida aselivytyf
      181 fsaseevvpe vifki
//
LOCUS       NP_001363485             518 aa            linear   PRI 27-DEC-2022
DEFINITION  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 16
            [Homo sapiens].
ACCESSION   NP_001363485
VERSION     NP_001363485.1
DBSOURCE    REFSEQ: accession NM_001376556.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 518)
  AUTHORS   Xie GF, Xu YX, Xu F, Sun LY, Ye ZL, Ma JJ, Wang HY and Shao JY.
  TITLE     Plasma SGIP1 methylation in diagnosis and prognosis prediction in
            hepatocellular carcinoma
  JOURNAL   Neoplasma 68 (1), 62-70 (2021)
   PUBMED   33118832
  REMARK    GeneRIF: Plasma SGIP1 methylation in diagnosis and prognosis
            prediction in hepatocellular carcinoma.
REFERENCE   2  (residues 1 to 518)
  AUTHORS   Zhang Y, Feng Y, Xin Y and Liu X.
  TITLE     SGIP1 dimerizes via intermolecular disulfide bond in muHD domain
            during cellular endocytosis
  JOURNAL   Biochem Biophys Res Commun 505 (1), 99-105 (2018)
   PUBMED   30236986
  REMARK    GeneRIF: Data indicate that cysteine C632 residue is important for
            the function of SH3 domain GRB2 like endophilin interacting protein
            1 (SGIP1) during cellular endocytosis.
REFERENCE   3  (residues 1 to 518)
  AUTHORS   Petko J, Tranchina T, Patel G, Levenson R and Justice-Bitner S.
  TITLE     Identifying novel members of the Wntless interactome through
            genetic and candidate gene approaches
  JOURNAL   Brain Res Bull 138, 96-105 (2018)
   PUBMED   28734904
REFERENCE   4  (residues 1 to 518)
  AUTHORS   Chwedorowicz R, Raszewski G, Kapka-Skrzypczak L, Sawicki K and
            Studzinski T.
  TITLE     Event-related potentials (ERP) and SGIP1 gene polymorphisms in
            alcoholics: relation to family history of alcoholism and drug usage
  JOURNAL   Ann Agric Environ Med 23 (4), 618-624 (2016)
   PUBMED   28030933
  REMARK    GeneRIF: The present study demonstrated a possible association of
            target P300 evoked theta and of alcohol dependence with SNPs from
            the gene SGIP1 in the region of rs10889635, but further studies are
            required.
REFERENCE   5  (residues 1 to 518)
  AUTHORS   Shimada A, Yamaguchi A and Kohda D.
  TITLE     Structural basis for the recognition of two consecutive mutually
            interacting DPF motifs by the SGIP1 mu homology domain
  JOURNAL   Sci Rep 6, 19565 (2016)
   PUBMED   26822536
  REMARK    GeneRIF: crystal structures of the SGIP1 mu homology domains in
            complex with peptides containing two DPF motifs, are reported.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 518)
  AUTHORS   Luke MM, O'Meara ES, Rowland CM, Shiffman D, Bare LA, Arellano AR,
            Longstreth WT Jr, Lumley T, Rice K, Tracy RP, Devlin JJ and Psaty
            BM.
  TITLE     Gene variants associated with ischemic stroke: the cardiovascular
            health study
  JOURNAL   Stroke 40 (2), 363-368 (2009)
   PUBMED   19023099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 518)
  AUTHORS   Shiffman D, O'Meara ES, Bare LA, Rowland CM, Louie JZ, Arellano AR,
            Lumley T, Rice K, Iakoubova O, Luke MM, Young BA, Malloy MJ, Kane
            JP, Ellis SG, Tracy RP, Devlin JJ and Psaty BM.
  TITLE     Association of gene variants with incident myocardial infarction in
            the Cardiovascular Health Study
  JOURNAL   Arterioscler Thromb Vasc Biol 28 (1), 173-179 (2008)
   PUBMED   17975119
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 518)
  AUTHORS   Uezu A, Horiuchi A, Kanda K, Kikuchi N, Umeda K, Tsujita K,
            Suetsugu S, Araki N, Yamamoto H, Takenawa T and Nakanishi H.
  TITLE     SGIP1alpha is an endocytic protein that directly interacts with
            phospholipids and Eps15
  JOURNAL   J Biol Chem 282 (36), 26481-26489 (2007)
   PUBMED   17626015
  REMARK    GeneRIF: SGIP1alpha plays an essential role in clathrin-mediated
            endocytosis by interacting with phospholipids and Eps15.
REFERENCE   9  (residues 1 to 518)
  AUTHORS   Trevaskis J, Walder K, Foletta V, Kerr-Bayles L, McMillan J, Cooper
            A, Lee S, Bolton K, Prior M, Fahey R, Whitecross K, Morton GJ,
            Schwartz MW and Collier GR.
  TITLE     Src homology 3-domain growth factor receptor-bound 2-like
            (endophilin) interacting protein 1, a novel neuronal protein that
            regulates energy balance
  JOURNAL   Endocrinology 146 (9), 3757-3764 (2005)
   PUBMED   15919751
REFERENCE   10 (residues 1 to 518)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356913.15 and AL139147.7.
            
            Summary: SGIP1 functions as an endocytic protein that affects
            signaling by receptors in neuronal systems involved in energy
            homeostasis via its interaction with endophilins (see SH3GL3; MIM
            603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al.,
            2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968540,
                              SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..518
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     Protein         1..518
                     /product="SH3-containing GRB2-like protein 3-interacting
                     protein 1 isoform 16"
                     /note="SH3-containing GRB2-like protein 3-interacting
                     protein 1; SH3 domain GRB2 like endophilin interacting
                     protein 1; endophilin-3-interacting protein"
                     /calculated_mol_wt=54897
     CDS             1..518
                     /gene="SGIP1"
                     /coded_by="NM_001376556.1:207..1763"
                     /note="isoform 16 is encoded by transcript variant 26"
                     /db_xref="GeneID:84251"
                     /db_xref="HGNC:HGNC:25412"
                     /db_xref="MIM:611540"
ORIGIN      
        1 mmeglkkrtr kafgirkkek dtdstgspdr dgikksngap ngfyaeidwe rynspeldee
       61 gysirpeepg stkgkhfyss seseeeeesh kkfnikikpl qskdilknaa tvdelkasig
      121 nialspspvr ksprrspgai krnlsseeva rprrstptpe liskkppddt talaplfgpp
      181 lesafdeqkt evlldqpeiw gsgqpinpsm espkltrpfp tgtppplppk nvpatpprtg
      241 spltigpgnd qsatevkiek lpsindldsi fgpvlspksv avnaeekwvh fsdtspehvt
      301 peltprekvv sppatpdnpa dspapgplgp pgptgppgpp gpprnvlspl nleevqkkva
      361 eqtfikddyl etisspkdfg lgqratpppp ppptyrtvvs spgpgsgpgp gttsgasspa
      421 rpatplvpcr sttppppppr ppsrpklppg kpgvgdvsrp fsppihsssp ppiaplarae
      481 stssisstns lsaattptvg knsllsfnpf vvltgyfl
//
LOCUS       NP_001338918             315 aa            linear   PRI 27-DEC-2022
DEFINITION  ester hydrolase C11orf54 isoform a [Homo sapiens].
ACCESSION   NP_001338918 XP_006718887
VERSION     NP_001338918.1
DBSOURCE    REFSEQ: accession NM_001351989.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 315)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   2  (residues 1 to 315)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   3  (residues 1 to 315)
  AUTHORS   Manjasetty BA, Bussow K, Fieber-Erdmann M, Roske Y, Gobom J,
            Scheich C, Gotz F, Niesen FH and Heinemann U.
  TITLE     Crystal structure of Homo sapiens PTD012 reveals a zinc-containing
            hydrolase fold
  JOURNAL   Protein Sci 15 (4), 914-920 (2006)
   PUBMED   16522806
REFERENCE   4  (residues 1 to 315)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001273.4.
            On Jun 2, 2017 this sequence version replaced XP_006718887.1.
            
            Transcript Variant: This variant (11), as well as variants 1-3 and
            7-10, encodes isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.267954.1,
                                           SRR1803617.252841.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..315
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q21"
     Protein         1..315
                     /product="ester hydrolase C11orf54 isoform a"
                     /note="ester hydrolase C11orf54; epididymis secretory
                     sperm binding protein"
                     /calculated_mol_wt=34986
     Region          14..304
                     /region_name="DUF1907"
                     /note="proteins similar to putative ester hydrolase
                     C11orf54/PTD012; cd17298"
                     /db_xref="CDD:341210"
     Site            order(98..99,110,157,219,266,268,278)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:341210"
     CDS             1..315
                     /gene="C11orf54"
                     /gene_synonym="PTD012; PTOD012"
                     /coded_by="NM_001351989.2:259..1206"
                     /note="isoform a is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS66204.1"
                     /db_xref="GeneID:28970"
                     /db_xref="HGNC:HGNC:30204"
                     /db_xref="MIM:615810"
ORIGIN      
        1 macaefsfhv psleelagvm qkglkdnfad vqvsvvdcpd ltkepftfpv kgicgktria
       61 evggvpyllp lvnqkkvydl nkiakeiklp gafilgagag pfqtlgfnse fmpviqtese
      121 hkppvngsyf ahvnpadggc llekysekch dfqcallanl fasegqpgkv ievkakrrtg
      181 plnfvtcmre tlekhygnkp igmggtfiiq kgkvkshimp aefsscplns deevnkwlhf
      241 yemkaplvcl pvfvsrdpgf dlrlehthff srhgegghyh ydttpdivey lgyflpaefl
      301 yridqpketh sigrd
//
LOCUS       NP_001191740             124 aa            linear   PRI 28-DEC-2022
DEFINITION  putative melanoma-associated antigen 5P [Homo sapiens].
ACCESSION   NP_001191740
VERSION     NP_001191740.1
DBSOURCE    REFSEQ: accession NM_001204811.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 124)
  AUTHORS   Cappell KM, Sinnott R, Taus P, Maxfield K, Scarbrough M and
            Whitehurst AW.
  TITLE     Multiple cancer testis antigens function to support tumor cell
            mitotic fidelity
  JOURNAL   Mol Cell Biol 32 (20), 4131-4140 (2012)
   PUBMED   22869527
REFERENCE   2  (residues 1 to 124)
  AUTHORS   Prakash T, Sharma VK, Adati N, Ozawa R, Kumar N, Nishida Y,
            Fujikake T, Takeda T and Taylor TD.
  TITLE     Expression of conjoined genes: another mechanism for gene
            regulation in eukaryotes
  JOURNAL   PLoS One 5 (10), e13284 (2010)
   PUBMED   20967262
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 124)
  AUTHORS   De Plaen E, Arden K, Traversari C, Gaforio JJ, Szikora JP, De Smet
            C, Brasseur F, van der Bruggen P, Lethe B, Lurquin C et al.
  TITLE     Structure, chromosomal localization, and expression of 12 genes of
            the MAGE family
  JOURNAL   Immunogenetics 40 (5), 360-369 (1994)
   PUBMED   7927540
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC116666.2, BX109673.1 and AF274856.3.
            
            Summary: This locus represents naturally occurring read-through
            transcription between the neighboring MAGEA10 (melanoma antigen
            family A, 10) and MAGEA5 (melanoma antigen family A, 5) genes on
            chromosome X. The read-through transcript is predicted to encode
            the downstream gene product. [provided by RefSeq, Mar 2011].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX109673.1, ERR4368409.432723.1
                                           [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2148874,
                                           SAMEA2149398 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            readthrough transcript :: includes exons from GeneID 4104, 4109
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..124
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..124
                     /product="putative melanoma-associated antigen 5P"
                     /note="melanoma-associated antigen 5; MAGE-5 antigen;
                     cancer/testis antigen 1.5; MAGE family member A5
                     pseudogene"
                     /calculated_mol_wt=12884
     Region          1..69
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P43359.1)"
     Region          5..96
                     /region_name="MAGE_N"
                     /note="Melanoma associated antigen family N terminal;
                     pfam12440"
                     /db_xref="CDD:432554"
     Region          82..103
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P43359.1)"
     CDS             1..124
                     /gene="LOC100533997"
                     /gene_synonym="CT1.5; MAGEA10-MAGEA5; MAGEA5P"
                     /coded_by="NM_001204811.3:381..755"
                     /db_xref="GeneID:100533997"
ORIGIN      
        1 msleqksqhc kpeegldtqe ealglvgvqa atteeqeavs sssplvpgtl gevpaagspg
       61 plkspqgasa iptaidftlw rqsikgssnq eeegpstspd pesvfraals kkvadlihfl
      121 llky
//
LOCUS       NP_001317606             602 aa            linear   PRI 28-DEC-2022
DEFINITION  T-box transcription factor TBX15 isoform 1 [Homo sapiens].
ACCESSION   NP_001317606 XP_005271219
VERSION     NP_001317606.1
DBSOURCE    REFSEQ: accession NM_001330677.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 602)
  AUTHORS   Zhang Y, Li J, Ji Y, Cheng Y and Fu X.
  TITLE     Mutations in the TBX15-ADAMTS2 pathway associate with a novel soft
            palate dysplasia
  JOURNAL   Hum Mutat 43 (12), 2102-2115 (2022)
   PUBMED   36124393
  REMARK    GeneRIF: Mutations in the TBX15-ADAMTS2 pathway associate with a
            novel soft palate dysplasia.
REFERENCE   2  (residues 1 to 602)
  AUTHORS   Leyden GM, Shapland CY, Davey Smith G, Sanderson E, Greenwood MP,
            Murphy D and Richardson TG.
  TITLE     Harnessing tissue-specific genetic variation to dissect putative
            causal pathways between body mass index and cardiometabolic
            phenotypes
  JOURNAL   Am J Hum Genet 109 (2), 240-252 (2022)
   PUBMED   35090585
  REMARK    GeneRIF: Harnessing tissue-specific genetic variation to dissect
            putative causal pathways between body mass index and
            cardiometabolic phenotypes.
REFERENCE   3  (residues 1 to 602)
  AUTHORS   Pan DZ, Miao Z, Comenho C, Rajkumar S, Koka A, Lee SHT, Alvarez M,
            Kaminska D, Ko A, Sinsheimer JS, Mohlke KL, Mancuso N,
            Munoz-Hernandez LL, Herrera-Hernandez M, Tusie-Luna MT,
            Aguilar-Salinas C, Pietilainen KH, Pihlajamaki J, Laakso M, Garske
            KM and Pajukanta P.
  TITLE     Identification of TBX15 as an adipose master trans regulator of
            abdominal obesity genes
  JOURNAL   Genome Med 13 (1), 123 (2021)
   PUBMED   34340684
  REMARK    GeneRIF: Identification of TBX15 as an adipose master trans
            regulator of abdominal obesity genes.
            Erratum:[Genome Med. 2021 Aug 30;13(1):139. PMID: 34461981]
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 602)
  AUTHORS   Zheng Z, Chen Z, Zhong Q, Zhu D, Xie Y, Shangguan W and Xie W.
  TITLE     CircPVT1 promotes progression in clear cell renal cell carcinoma by
            sponging miR-145-5p and regulating TBX15 expression
  JOURNAL   Cancer Sci 112 (4), 1443-1456 (2021)
   PUBMED   33453148
  REMARK    GeneRIF: CircPVT1 promotes progression in clear cell renal cell
            carcinoma by sponging miR-145-5p and regulating TBX15 expression.
REFERENCE   5  (residues 1 to 602)
  AUTHORS   JuknytE G, LaurinaitytE I, VilkeviCiUtE A, GedvilaitE G,
            GlebauskienE B, KriauCiUnienE L and LiutkeviCienE R.
  TITLE     TBX15 rs98422, DNM3 rs1011731, RAD51B rs8017304, and rs2588809 Gene
            Polymorphisms and Associations With Pituitary Adenoma
  JOURNAL   In Vivo 35 (2), 815-826 (2021)
   PUBMED   33622874
  REMARK    GeneRIF: TBX15 rs98422, DNM3 rs1011731, RAD51B rs8017304, and
            rs2588809 Gene Polymorphisms and Associations With Pituitary
            Adenoma.
REFERENCE   6  (residues 1 to 602)
  AUTHORS   Heid IM, Jackson AU, Randall JC, Winkler TW, Qi L, Steinthorsdottir
            V, Thorleifsson G, Zillikens MC, Speliotes EK, Magi R, Workalemahu
            T, White CC, Bouatia-Naji N, Harris TB, Berndt SI, Ingelsson E,
            Willer CJ, Weedon MN, Luan J, Vedantam S, Esko T, Kilpelainen TO,
            Kutalik Z, Li S, Monda KL, Dixon AL, Holmes CC, Kaplan LM, Liang L,
            Min JL, Moffatt MF, Molony C, Nicholson G, Schadt EE, Zondervan KT,
            Feitosa MF, Ferreira T, Lango Allen H, Weyant RJ, Wheeler E, Wood
            AR, Estrada K, Goddard ME, Lettre G, Mangino M, Nyholt DR, Purcell
            S, Smith AV, Visscher PM, Yang J, McCarroll SA, Nemesh J, Voight
            BF, Absher D, Amin N, Aspelund T, Coin L, Glazer NL, Hayward C,
            Heard-Costa NL, Hottenga JJ, Johansson A, Johnson T, Kaakinen M,
            Kapur K, Ketkar S, Knowles JW, Kraft P, Kraja AT, Lamina C,
            Leitzmann MF, McKnight B, Morris AP, Ong KK, Perry JR, Peters MJ,
            Polasek O, Prokopenko I, Rayner NW, Ripatti S, Rivadeneira F,
            Robertson NR, Sanna S, Sovio U, Surakka I, Teumer A, van Wingerden
            S, Vitart V, Zhao JH, Cavalcanti-Proenca C, Chines PS, Fisher E,
            Kulzer JR, Lecoeur C, Narisu N, Sandholt C, Scott LJ, Silander K,
            Stark K, Tammesoo ML, Teslovich TM, Timpson NJ, Watanabe RM, Welch
            R, Chasman DI, Cooper MN, Jansson JO, Kettunen J, Lawrence RW,
            Pellikka N, Perola M, Vandenput L, Alavere H, Almgren P, Atwood LD,
            Bennett AJ, Biffar R, Bonnycastle LL, Bornstein SR, Buchanan TA,
            Campbell H, Day IN, Dei M, Dorr M, Elliott P, Erdos MR, Eriksson
            JG, Freimer NB, Fu M, Gaget S, Geus EJ, Gjesing AP, Grallert H,
            Grassler J, Groves CJ, Guiducci C, Hartikainen AL, Hassanali N,
            Havulinna AS, Herzig KH, Hicks AA, Hui J, Igl W, Jousilahti P, Jula
            A, Kajantie E, Kinnunen L, Kolcic I, Koskinen S, Kovacs P, Kroemer
            HK, Krzelj V, Kuusisto J, Kvaloy K, Laitinen J, Lantieri O, Lathrop
            GM, Lokki ML, Luben RN, Ludwig B, McArdle WL, McCarthy A, Morken
            MA, Nelis M, Neville MJ, Pare G, Parker AN, Peden JF, Pichler I,
            Pietilainen KH, Platou CG, Pouta A, Ridderstrale M, Samani NJ,
            Saramies J, Sinisalo J, Smit JH, Strawbridge RJ, Stringham HM,
            Swift AJ, Teder-Laving M, Thomson B, Usala G, van Meurs JB, van
            Ommen GJ, Vatin V, Volpato CB, Wallaschofski H, Walters GB, Widen
            E, Wild SH, Willemsen G, Witte DR, Zgaga L, Zitting P, Beilby JP,
            James AL, Kahonen M, Lehtimaki T, Nieminen MS, Ohlsson C, Palmer
            LJ, Raitakari O, Ridker PM, Stumvoll M, Tonjes A, Viikari J, Balkau
            B, Ben-Shlomo Y, Bergman RN, Boeing H, Smith GD, Ebrahim S, Froguel
            P, Hansen T, Hengstenberg C, Hveem K, Isomaa B, Jorgensen T, Karpe
            F, Khaw KT, Laakso M, Lawlor DA, Marre M, Meitinger T, Metspalu A,
            Midthjell K, Pedersen O, Salomaa V, Schwarz PE, Tuomi T, Tuomilehto
            J, Valle TT, Wareham NJ, Arnold AM, Beckmann JS, Bergmann S,
            Boerwinkle E, Boomsma DI, Caulfield MJ, Collins FS, Eiriksdottir G,
            Gudnason V, Gyllensten U, Hamsten A, Hattersley AT, Hofman A, Hu
            FB, Illig T, Iribarren C, Jarvelin MR, Kao WH, Kaprio J, Launer LJ,
            Munroe PB, Oostra B, Penninx BW, Pramstaller PP, Psaty BM,
            Quertermous T, Rissanen A, Rudan I, Shuldiner AR, Soranzo N,
            Spector TD, Syvanen AC, Uda M, Uitterlinden A, Volzke H,
            Vollenweider P, Wilson JF, Witteman JC, Wright AF, Abecasis GR,
            Boehnke M, Borecki IB, Deloukas P, Frayling TM, Groop LC,
            Haritunians T, Hunter DJ, Kaplan RC, North KE, O'Connell JR,
            Peltonen L, Schlessinger D, Strachan DP, Hirschhorn JN, Assimes TL,
            Wichmann HE, Thorsteinsdottir U, van Duijn CM, Stefansson K,
            Cupples LA, Loos RJ, Barroso I, McCarthy MI, Fox CS, Mohlke KL and
            Lindgren CM.
  CONSRTM   MAGIC
  TITLE     Meta-analysis identifies 13 new loci associated with waist-hip
            ratio and reveals sexual dimorphism in the genetic basis of fat
            distribution
  JOURNAL   Nat Genet 42 (11), 949-960 (2010)
   PUBMED   20935629
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Erratum:[Nat Genet. 2011 Nov;43(11):1164]
REFERENCE   7  (residues 1 to 602)
  AUTHORS   Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR,
            Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen
            L, Lidral AC and Murray JC.
  TITLE     Maternal genes and facial clefts in offspring: a comprehensive
            search for genetic associations in two population-based cleft
            studies from Scandinavia
  JOURNAL   PLoS One 5 (7), e11493 (2010)
   PUBMED   20634891
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 602)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   9  (residues 1 to 602)
  AUTHORS   Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S,
            Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A and
            Superti-Furga A.
  TITLE     TBX15 mutations cause craniofacial dysmorphism, hypoplasia of
            scapula and pelvis, and short stature in Cousin syndrome
  JOURNAL   Am J Hum Genet 83 (5), 649-655 (2008)
   PUBMED   19068278
  REMARK    GeneRIF: TBX15 mutations cause craniofacial dysmorphism, hypoplasia
            of scapula and pelvis, and short stature in Cousin syndrome.
REFERENCE   10 (residues 1 to 602)
  AUTHORS   Agulnik SI, Papaioannou VE and Silver LM.
  TITLE     Cloning, mapping, and expression analysis of TBX15, a new member of
            the T-Box gene family
  JOURNAL   Genomics 51 (1), 68-75 (1998)
   PUBMED   9693034
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139420.13 and AL357045.10.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 1, 2016 this sequence version replaced XP_005271219.1.
            
            Summary: This gene belongs to the T-box family of genes, which
            encode a phylogenetically conserved family of transcription factors
            that regulate a variety of developmental processes. All these genes
            contain a common T-box DNA-binding domain. Mutations in this gene
            are associated with Cousin syndrome.[provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.52695.1,
                                           SRR1660805.298151.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369429.5/ ENSP00000358437.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..602
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p12"
     Protein         1..602
                     /product="T-box transcription factor TBX15 isoform 1"
                     /note="T-box 14; T-box transcription factor TBX15; T-box
                     protein 14; T-box protein 15; T-box transcription factor
                     TBX14; T-box 15"
                     /calculated_mol_wt=65627
     Region          46..84
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96SF7.2)"
     Region          107..304
                     /region_name="T-box_TBX15-like"
                     /note="DNA-binding domain of T-box transcription factor 15
                     and related T-box proteins; cd20198"
                     /db_xref="CDD:410324"
     Site            order(140..141,174,220,223,236..237,281..284,289,292..293,
                     296..302)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410324"
     Site            330
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96SF7.2)"
     Region          338..369
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96SF7.2)"
     Region          425..447
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96SF7.2)"
     CDS             1..602
                     /gene="TBX15"
                     /gene_synonym="TBX14"
                     /coded_by="NM_001330677.2:549..2357"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS81360.1"
                     /db_xref="GeneID:6913"
                     /db_xref="HGNC:HGNC:11594"
                     /db_xref="MIM:604127"
ORIGIN      
        1 mserrrsava lssrahafsv ealigsnkkr klrdweekgl dlsmealspa gplgdtedaa
       61 ahglephpds eqstgsdsev ltertscsfs thtdlasgaa gpvpaamssm eeiqvelqca
      121 dlwkrfhdig temiitkagr rmfpamrvki tgldphqqyy iamdivpvdn kryryvyhss
      181 kwmvagnads pvpprvyihp dslasgdtwm rqvvsfdklk ltnnelddqg hiilhsmhky
      241 qprvhvirkd fssdlsptkp vpvgdgvktf nfpetvfttv tayqnqqitr lkidrnpfak
      301 gfrdsgrnrt gleaimetya fwrppvrtlt fedfttmqkq qggstgtspt tsstgtpsps
      361 asshllspsc spptfhlapn tfnvgcresq lcnlnlsdyp pcarsnmaal qsypglsdsg
      421 ynrlqsgtts atqpsetfmp qrtpslisgi ptppslpgns kmeayggqlg sfptsqfqyv
      481 mqagnaasss ssphmfggsh mqqssynafs lhnpynlygy nfptsprlaa speklsasqs
      541 tllcsspsng afgerqylps gmehsmhmis pspnnqqatn tcdgrqygav pgsssqmsvh
      601 mv
//
LOCUS       NP_001188457             619 aa            linear   PRI 28-DEC-2022
DEFINITION  neuroendocrine convertase 2 isoform 3 [Homo sapiens].
ACCESSION   NP_001188457
VERSION     NP_001188457.1
DBSOURCE    REFSEQ: accession NM_001201528.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 619)
  AUTHORS   Remes SM, Leijon H, Vesterinen T, Louhimo J, Pulkkinen V, Ezer S,
            Kere J, Haglund C and Arola J.
  TITLE     PCSK2 expression in neuroendocrine tumors points to a midgut,
            pulmonary, or pheochromocytoma-paraganglioma origin
  JOURNAL   APMIS 128 (11), 563-572 (2020)
   PUBMED   32794589
  REMARK    GeneRIF: PCSK2 expression in neuroendocrine tumors points to a
            midgut, pulmonary, or pheochromocytoma-paraganglioma origin.
REFERENCE   2  (residues 1 to 619)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 619)
  AUTHORS   Fujimaki T, Kato K, Yokoi K, Oguri M, Yoshida T, Watanabe S, Metoki
            N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Kimura G and Yamada Y.
  TITLE     Association of genetic variants in SEMA3F, CLEC16A, LAMA3, and
            PCSK2 with myocardial infarction in Japanese individuals
  JOURNAL   Atherosclerosis 210 (2), 468-473 (2010)
   PUBMED   20036365
  REMARK    GeneRIF: SEMA3F, CLEC16A, LAMA3, and PCSK2 variants have roles in
            myocardial infarction in Japanese individuals
REFERENCE   4  (residues 1 to 619)
  AUTHORS   Leak TS, Keene KL, Langefeld CD, Gallagher CJ, Mychaleckyj JC,
            Freedman BI, Bowden DW, Rich SS and Sale MM.
  TITLE     Association of the proprotein convertase subtilisin/kexin-type 2
            (PCSK2) gene with type 2 diabetes in an African American population
  JOURNAL   Mol Genet Metab 92 (1-2), 145-150 (2007)
   PUBMED   17618154
  REMARK    GeneRIF: Single nucleotide polymorphisms in PCSK2 is associated
            with type 2 diabetes
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 619)
  AUTHORS   Taylor NA, Shennan KI, Cutler DF and Docherty K.
  TITLE     Mutations within the propeptide, the primary cleavage site or the
            catalytic site, or deletion of C-terminal sequences, prevents
            secretion of proPC2 from transfected COS-7 cells
  JOURNAL   Biochem J 321 (Pt 2) (Pt 2), 367-373 (1997)
   PUBMED   9020868
REFERENCE   6  (residues 1 to 619)
  AUTHORS   Bailyes EM, Shennan KI, Usac EF, Arden SD, Guest PC, Docherty K and
            Hutton JC.
  TITLE     Differences between the catalytic properties of recombinant human
            PC2 and endogenous rat PC2
  JOURNAL   Biochem J 309 (Pt 2) (Pt 2), 587-594 (1995)
   PUBMED   7626024
REFERENCE   7  (residues 1 to 619)
  AUTHORS   Ohagi S, LaMendola J, LeBeau MM, Espinosa R 3rd, Takeda J, Smeekens
            SP, Chan SJ and Steiner DF.
  TITLE     Identification and analysis of the gene encoding human PC2, a
            prohormone convertase expressed in neuroendocrine tissues
  JOURNAL   Proc Natl Acad Sci U S A 89 (11), 4977-4981 (1992)
   PUBMED   1594602
REFERENCE   8  (residues 1 to 619)
  AUTHORS   Seidah NG, Mattei MG, Gaspar L, Benjannet S, Mbikay M and Chretien
            M.
  TITLE     Chromosomal assignments of the genes for neuroendocrine convertase
            PC1 (NEC1) to human 5q15-21, neuroendocrine convertase PC2 (NEC2)
            to human 20p11.1-11.2, and furin (mouse 7[D1-E2] region)
  JOURNAL   Genomics 11 (1), 103-107 (1991)
   PUBMED   1765368
REFERENCE   9  (residues 1 to 619)
  AUTHORS   Smeekens SP and Steiner DF.
  TITLE     Identification of a human insulinoma cDNA encoding a novel
            mammalian protein structurally related to the yeast dibasic
            processing protease Kex2
  JOURNAL   J Biol Chem 265 (6), 2997-3000 (1990)
   PUBMED   2154467
REFERENCE   10 (residues 1 to 619)
  AUTHORS   Sanke T, Bell GI, Sample C, Rubenstein AH and Steiner DF.
  TITLE     An islet amyloid peptide is derived from an 89-amino acid precursor
            by proteolytic processing
  JOURNAL   J Biol Chem 263 (33), 17243-17246 (1988)
   PUBMED   3053705
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC040546.1, BC001905.1 and
            AL031664.1.
            
            Summary: This gene encodes a member of the subtilisin-like
            proprotein convertase family, which includes proteases that process
            protein and peptide precursors trafficking through regulated or
            constitutive branches of the secretory pathway. The protein
            undergoes an initial autocatalytic processing event and interacts
            with a neuroendocrine secretory protein in the ER, exits the ER and
            sorts to secretory granules, where it is cleaved and catalytically
            activated during intracellular transport. The encoded protease is
            packaged into and activated in dense core secretory granules and
            expressed in the neuroendocrine system and brain. This gene encodes
            one of the seven basic amino acid-specific members which cleave
            their substrates at single or paired basic residues. It functions
            in the proteolytic activation of polypeptide hormones and
            neuropeptides precursors. Single nucleotide polymorphisms in this
            gene may increase susceptibility to myocardial infarction and type
            2 diabetes. This gene may also play a role in tumor development and
            progression. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, Jan 2014].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            initiates translation at a downstream start codon, compared to
            variant 1. The encoded isoform (3) has a shorter N-terminus,
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC040546.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..619
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.1"
     Protein         1..619
                     /product="neuroendocrine convertase 2 isoform 3"
                     /EC_number="3.4.21.94"
                     /note="prohormone convertase 2; neuroendocrine convertase
                     2; KEX2-like endoprotease 2"
                     /calculated_mol_wt=68449
     Region          14..90
                     /region_name="S8_pro-domain"
                     /note="Peptidase S8 pro-domain; pfam16470"
                     /db_xref="CDD:435357"
     Region          103..399
                     /region_name="Peptidases_S8_Protein_convertases_Kexins_Fur
                     in-lik"
                     /note="Peptidase S8 family domain in Protein convertases;
                     cd04059"
                     /db_xref="CDD:173789"
     Site            order(104,157,203)
                     /site_type="other"
                     /note="calcium binding site 1 [ion binding]"
                     /db_xref="CDD:173789"
     Site            order(148..149,186,189,232,250,260,291,301,365)
                     /site_type="active"
                     /db_xref="CDD:173789"
     Site            order(148,189,365)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:173789"
     Site            order(296,326)
                     /site_type="other"
                     /note="calcium binding site 2 [ion binding]"
                     /db_xref="CDD:173789"
     Site            order(304,306,309,311)
                     /site_type="other"
                     /note="calcium binding site 3 [ion binding]"
                     /db_xref="CDD:173789"
     Region          485..570
                     /region_name="P_proprotein"
                     /note="Proprotein convertase P-domain; pfam01483"
                     /db_xref="CDD:426283"
     CDS             1..619
                     /gene="PCSK2"
                     /gene_synonym="NEC 2; NEC-2; NEC2; PC2; SPC2"
                     /coded_by="NM_001201528.2:307..2166"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS56180.1"
                     /db_xref="GeneID:5126"
                     /db_xref="HGNC:HGNC:8744"
                     /db_xref="MIM:162151"
ORIGIN      
        1 mvfasaerpv ftnhflvelh kggedkarqv aaehgfgvrk lpfaeglyhf yhnglakakr
       61 rrslhhkqql erdprvkmal qqegfdrkkr gyrdineidi nmndplftkq wylintgqad
      121 gtpgldlnva eawelgytgk gvtigimddg idylhpdlas nynaeasydf ssndpypypr
      181 ytddwfnshg trcagevsaa annnicgvgv aynskvagir mldqpfmtdi ieassishmp
      241 qlidiysasw gptdngktvd gpreltlqam adgvnkgrgg kgsiyvwasg dggsyddcnc
      301 dgyassmwti sinsaindgr talydescss tlastfsngr krnpeagvat tdlygnctlr
      361 hsgtsaaape aagvfalale anlgltwrdm qhltvltskr nqlhdevhqw rrngvglefn
      421 hlfgygvlda gamvkmakdw ktvperfhcv ggsvqdpeki pstgklvltl ttdacegken
      481 fvrylehvqa vitvnatrrg dlninmtspm gtksillsrr prdddskvgf dkwpfmttht
      541 wgedargtwt lelgfvgsap qkgvlkewtl mlhgtqsapy idqvvrdyqs klamskkeel
      601 eeeldeaver slksilnkn
//
LOCUS       NP_001308360            2809 aa            linear   PRI 29-DEC-2022
DEFINITION  fibrillin-3 precursor [Homo sapiens].
ACCESSION   NP_001308360 XP_011526675
VERSION     NP_001308360.1
DBSOURCE    REFSEQ: accession NM_001321431.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2809)
  AUTHORS   Karakaya C, Cil AP, Bilguvar K, Cakir T, Karalok MH, Karabacak RO
            and Caglayan AO.
  TITLE     Further delineation of familial polycystic ovary syndrome (PCOS)
            via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene
            variants are identified
  JOURNAL   J Obstet Gynaecol Res 48 (5), 1202-1211 (2022)
   PUBMED   35141985
  REMARK    GeneRIF: Further delineation of familial polycystic ovary syndrome
            (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1
            gene variants are identified.
REFERENCE   2  (residues 1 to 2809)
  AUTHORS   Sabatier L, Djokic J, Hubmacher D, Dzafik D, Nelea V and Reinhardt
            DP.
  TITLE     Heparin/heparan sulfate controls fibrillin-1, -2 and -3
            self-interactions in microfibril assembly
  JOURNAL   FEBS Lett 588 (17), 2890-2897 (2014)
   PUBMED   25034023
REFERENCE   3  (residues 1 to 2809)
  AUTHORS   Xie GB, Xu P, Che YN, Xia YJ, Cao YX, Wang WJ, Qiao D, Wu XK, Yi L,
            Gao Q and Wang Y.
  TITLE     Microsatellite polymorphism in the fibrillin 3 gene and
            susceptibility to PCOS: a case-control study and meta-analysis
  JOURNAL   Reprod Biomed Online 26 (2), 168-174 (2013)
   PUBMED   23265956
  REMARK    GeneRIF: an association study showed a potential association of the
            D19S884 marker with PCOS in Chinese Han women and the meta-analysis
            identified that the A8 allele may increase susceptibility to PCOS
REFERENCE   4  (residues 1 to 2809)
  AUTHORS   Yalamanchi SK, Sam S, Cardenas MO, Holaday LW, Urbanek M and Dunaif
            A.
  TITLE     Association of fibrillin-3 and transcription factor-7-like 2 gene
            variants with metabolic phenotypes in PCOS
  JOURNAL   Obesity (Silver Spring) 20 (6), 1273-1278 (2012)
   PUBMED   22301903
  REMARK    GeneRIF: The FBN3 risk allele may be associated with changes in
            basal glucose homeostasis in PCOS.
REFERENCE   5  (residues 1 to 2809)
  AUTHORS   Hatzirodos N, Bayne RA, Irving-Rodgers HF, Hummitzsch K, Sabatier
            L, Lee S, Bonner W, Gibson MA, Rainey WE, Carr BR, Mason HD,
            Reinhardt DP, Anderson RA and Rodgers RJ.
  TITLE     Linkage of regulators of TGF-beta activity in the fetal ovary to
            polycystic ovary syndrome
  JOURNAL   FASEB J 25 (7), 2256-2265 (2011)
   PUBMED   21411746
  REMARK    GeneRIF: Data show that TGF-beta pathways operate during ovarian
            fetal development, and fibrillin 3 is highly expressed at a
            critical stage early in developing human and bovine fetal ovaries.
REFERENCE   6  (residues 1 to 2809)
  AUTHORS   Urbanek M, Sam S, Legro RS and Dunaif A.
  TITLE     Identification of a polycystic ovary syndrome susceptibility
            variant in fibrillin-3 and association with a metabolic phenotype
  JOURNAL   J Clin Endocrinol Metab 92 (11), 4191-4198 (2007)
   PUBMED   17785364
  REMARK    GeneRIF: fibrillin-3 gene showed the strongest evidence for
            association with Polycystic ovary syndrome
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 2809)
  AUTHORS   Fu GK, Wang JT, Yang J, Au-Young J and Stuve LL.
  TITLE     Circular rapid amplification of cDNA ends for high-throughput
            extension cloning of partial genes
  JOURNAL   Genomics 84 (1), 205-210 (2004)
   PUBMED   15203218
REFERENCE   8  (residues 1 to 2809)
  AUTHORS   Corson GM, Charbonneau NL, Keene DR and Sakai LY.
  TITLE     Differential expression of fibrillin-3 adds to microfibril variety
            in human and avian, but not rodent, connective tissues
  JOURNAL   Genomics 83 (3), 461-472 (2004)
   PUBMED   14962672
REFERENCE   9  (residues 1 to 2809)
  AUTHORS   Uyeda T, Takahashi T, Eto S, Sato T, Xu G, Kanezaki R, Toki T,
            Yonesaka S and Ito E.
  TITLE     Three novel mutations of the fibrillin-1 gene and ten single
            nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome
            patients
  JOURNAL   J Hum Genet 49 (8), 404-407 (2004)
   PUBMED   15221638
REFERENCE   10 (residues 1 to 2809)
  AUTHORS   Faivre L, Megarbane A, Alswaid A, Zylberberg L, Aldohayan N,
            Campos-Xavier B, Bacq D, Legeai-Mallet L, Bonaventure J, Munnich A
            and Cormier-Daire V.
  TITLE     Homozygosity mapping of a Weill-Marchesani syndrome locus to
            chromosome 19p13.3-p13.2
  JOURNAL   Hum Genet 110 (4), 366-370 (2002)
   PUBMED   11941487
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY165864.1, AC022146.8,
            AC008946.7 and BC153882.1.
            On Mar 25, 2016 this sequence version replaced XP_011526675.1.
            
            Summary: This gene encodes a memebr of the fibrillin protein
            family. Fibrillins are extracellular matrix molecules that assemble
            into microfibrils in many connective tissues. This gene is most
            highly expressed in fetal tissues and its protein product is
            localized to extracellular microfibrils of developing skeletal
            elements, skin, lung, kidney, and skeletal muscle. This gene is
            potentially involved in Weill-Marchesani syndrome. [provided by
            RefSeq, Mar 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY165864.1, SRR18074969.504692.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2809
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     Protein         1..2809
                     /product="fibrillin-3 precursor"
                     /calculated_mol_wt=297129
     sig_peptide     1..31
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3247
     Region          47..83
                     /region_name="Fibrillin_U_N"
                     /note="Fibrillin 1 unique N-terminal domain; pfam18193"
                     /db_xref="CDD:436338"
     mat_peptide     49..2689
                     /product="Fibrillin-3. /id=PRO_0000007586"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75N90.3)"
                     /calculated_mol_wt=281833
     Region          196..>228
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          302..346
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Site            406
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75N90.3)"
     Region          449..479
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          489..530
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(489,492,507)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          572..612
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(572,575,589)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          627..670
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          682..718
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          724..756
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(724,727,742)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          820..>849
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          869..899
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(869,872,887)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          924..966
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Site            1025
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75N90.3)"
     Region          1028..1062
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1028,1031,1046)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1071..1112
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1071,1074,1089)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1159..1194
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Site            order(1280,1283,1299)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1284..1319
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Site            order(1321,1324,1340)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1325..1360
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          1404..1444
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1404,1407,1421)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Site            1442
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75N90.3)"
     Region          1445..1476
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1445,1448,1462)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1505..1546
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Site            1538
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75N90.3)"
     Region          1563..1599
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1563,1566,1581)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Site            1627
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75N90.3)"
     Site            1658
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75N90.3)"
     Region          1659..1703
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Site            1668
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75N90.3)"
     Region          1721..1751
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(1721,1724,1739)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          <1761..1799
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Region          <1800..1842
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Region          1847..1881
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            1858
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75N90.3)"
     Region          1909..1932
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          1969..2009
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1969,1972,1987)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          2024..2068
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Site            2033
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75N90.3)"
     Region          2084..2114
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(2084,2087,2102)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          2126..2165
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(2126,2129,2143)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          2166..2205
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          2207..2239
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Region          2363..2399
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          <2403..2443
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Region          2446..2475
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Region          2485..2519
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(2485,2488,2504)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          2528..2558
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(2528,2531,2544)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     mat_peptide     2690..2809
                     /product="Fibrillin-3 C-terminal peptide.
                     /evidence=ECO:0000250|UniProtKB:P35555.
                     /id=PRO_0000436892"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75N90.3)"
                     /calculated_mol_wt=13410
     Site            2713
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75N90.3)"
     CDS             1..2809
                     /gene="FBN3"
                     /coded_by="NM_001321431.2:141..8570"
                     /db_xref="CCDS:CCDS12196.1"
                     /db_xref="GeneID:84467"
                     /db_xref="HGNC:HGNC:18794"
                     /db_xref="MIM:608529"
ORIGIN      
        1 mtleglylar gplarlllaw sallcmaggq grwdgaleaa gpgrvrrrgs pgilqgpnvc
       61 gsrfhayccp gwrtfpgrsq cvvpicrrac gegfcsqpnl ctcadgtlap scgvsrgsgc
      121 svscmnggtc rgasclcqkg ytgtvcgqpi cdrgchnggr cigpnrcacv ygfmgpqcer
      181 dyrtgpcfgq vgpegcqhql tglvctkalc catvgrawgl pcelcpaqph pcrrgfipni
      241 htgacqdvde cqavpglcqg gscvnmvgsf hcrcpvghrl sdssaacedy ragacfsvlf
      301 ggrcagdlag hytrrqcccd rgrcwaagpv pelcpprgsn efqqlcaqrl pllpghpglf
      361 pgllgfgsng mgpplgparl nphgsdargi pslgpgnsni gtatlnqtid icrhftnlcl
      421 ngrclptpss yrcecnvgyt qdvrgecidv dectsspchh gdcvnipgty hcrcypgfqa
      481 tptrqacvdv decivsgglc hlgrcvnteg sfqcvcnagf elspdgkncv dhnecatstm
      541 cvngvclned gsfsclckpg fllapgghyc mdidecqtpg icvnghctnt egsfrcqclg
      601 glavgtdgrv cvdthvrstc ygaiekgsca rpfpgtvtks ecccanpdhg fgepcqlcpa
      661 kdsaefqalc ssglgittdg rdinecaldp evcangvcen lrgsyrcvcn lgyeagasgk
      721 dctdvdecal nsllcdngwc qnspgsyscs cppgfhfwqd teickdvdec lsspcvsgvc
      781 rnlagsytck cgpgsrldps gtfcldstkg tcwlkiqesr cevnlqgasl rseccatlga
      841 awgspcerce idpacargfa rmtgvtcddv necesfpgvc pngrcvntag sfrcecpegl
      901 mldasgrlcv dvrlepcflr wdedecgvtl pgkyrmdvcc csigavwgve ceacpdpesl
      961 efaslcprgl gfasrdflsg rpfykdvnec kvfpglcthg tcrntvgsfh cacaggfald
     1021 aqernctdid ecrispdlcg qgtcvntpgs fececfpgye sgfmlmkncm dvdecardpl
     1081 lcrggtctnt dgsykcqcpp gheltakgta cedidecsls dglcphgqcv nvigafqcsc
     1141 hagfqstpdr qgcvdinecr vqnggcdvhc integsyrcs cgqgyslmpd gracadvdec
     1201 eenprvcdqg hctnmpgghr clcydgfmat pdmrtcvdvd ecdlnphicl hgdcentkgs
     1261 fvchcqlgym vrkgatgcsd vdecevgghn cdshasclni pgsfscrclp gwvgdgfech
     1321 dldecvsqeh rcsprgdcln vpgsyrctcr qgfagdgffc edrdecaenv dlcdngqcln
     1381 apggyrcece mgfdptedhr acqdvdecaq gnlcafgsce nlpgmfrcic nggyeldrgg
     1441 gnctdineca dpvncingvc intpgsylcs cpqdfelnps gvgcvdtrag ncflethdrg
     1501 dsgiscsaei gvgvtrascc cslgrawgnp celcpmantt eyrtlcpgge gfqpnritvi
     1561 ledidecqel pglcqggdcv ntfgsfqcec ppgyhlseht ricedidecs thsgicgpgt
     1621 cyntlgnytc vcpaeylqvn ggnncmdmrk svcfrhyngt cqnelafnvt rkmcccsyni
     1681 gqawnrpcea cptpispdyq ilcgnqapgf ltdihtgkpl didecgeipa icangicinq
     1741 igsfrcecpa gfnynsilla cedvdecgsr espcqqnadc inipgsyrck ctrgyklspg
     1801 gacvgrnecr eipnvcshgd cmdtegsymc lchrgfqasa dqtlcmdide cdrqpcgngt
     1861 ckniigsync lcfpgfvvth ngdcvdfdec ttlvgqvcrf ghclntagsf hclcqdgfel
     1921 tadgkncvdt neclslagtc lpgtcqnleg sfrcicppgf qvqsdhcidi decseepnlc
     1981 lfgtctnspg sfqclcppgf vlsdnghrcf dtrqsfcftr feagkcsvpk afnttktrcc
     2041 cskrpgegwg dpcelcpqeg saafqelcpf ghgavpgpdd sredvnecae npgvctngvc
     2101 vntdgsfrce cpfgysldft gincvdtdec svghpcgqgt ctnviggfec acadgfepgl
     2161 mmtcedidec slnpllcafr chntegsylc tcpagytlre dgamcrdvde cadgqqdcha
     2221 rgmecknlig tfacvcppgm rplpgsgegc tddnechaqp dlcvngrcvn tagsfrcdcd
     2281 egfqpsptlt echdirqgpc faevlqtmcr slsssseavt raecccgggr gwgprcelcp
     2341 lpgtsayrkl cphgsgytae grdvdecrml ahlcahgeci nslgsfrchc qagytpdata
     2401 ttcldmdecs qvpkpctflc kntkgsflcs cprgylleed grtckdldec tsrqhncqfl
     2461 cvntvgaftc rcppgftqhh qacfdndecs aqpgpcgahg hchntpgsfr cechqgftlv
     2521 ssghgcedvn ecdgphrcqh gcqnqlggyr cscpqgftqh sqwaqcvden ecalspptcg
     2581 sascrntlgg frcvcpsgfd fdqalggcqe vdecagrrgp csyscantpg gflcgcpqgy
     2641 fragqghcvs glgfspgpqd tpdkeellss eacyecking lsprdrprrs ahrdhqvnla
     2701 tldsealltl glnlshlgra erilelrpal eglegriryv ivrgneqgff rmhhlrgvss
     2761 lqlgrrrpgp gtyrlevvsh magpwgvqpe gqpgpwgqal rlkvqlqll
//
LOCUS       NP_001364477            1837 aa            linear   PRI 29-DEC-2022
DEFINITION  dedicator of cytokinesis protein 1 isoform 7 [Homo sapiens].
ACCESSION   NP_001364477
VERSION     NP_001364477.1
DBSOURCE    REFSEQ: accession NM_001377548.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1837)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (residues 1 to 1837)
  AUTHORS   Li S, Liu F, Zheng K, Wang W, Qiu E, Pei Y, Wang S, Zhang J and
            Zhang X.
  TITLE     CircDOCK1 promotes the tumorigenesis and cisplatin resistance of
            osteogenic sarcoma via the miR-339-3p/IGF1R axis
  JOURNAL   Mol Cancer 20 (1), 161 (2021)
   PUBMED   34876132
  REMARK    GeneRIF: CircDOCK1 promotes the tumorigenesis and cisplatin
            resistance of osteogenic sarcoma via the miR-339-3p/IGF1R axis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1837)
  AUTHORS   Yang X, Wang Y, Pang S, Li X, Wang P, Ma R, Ma Y and Song C.
  TITLE     LINC00665 promotes the progression of acute myeloid leukemia by
            regulating the miR-4458/DOCK1 pathway
  JOURNAL   Sci Rep 11 (1), 5009 (2021)
   PUBMED   33658535
  REMARK    GeneRIF: LINC00665 promotes the progression of acute myeloid
            leukemia by regulating the miR-4458/DOCK1 pathway.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1837)
  AUTHORS   Ferrari MG, Ganaie AA, Shabenah A, Mansini AP, Wang L, Murugan P,
            Davicioni E, Wang J, Deng Y, Hoeppner LH, Warlick CA, Konety BR and
            Saleem M.
  TITLE     Identifying and treating ROBO1-ve /DOCK1+ve prostate cancer: An
            aggressive cancer subtype prevalent in African American patients
  JOURNAL   Prostate 80 (13), 1045-1057 (2020)
   PUBMED   32687658
  REMARK    GeneRIF: Identifying and treating ROBO1(-ve) /DOCK1(+ve) prostate
            cancer: An aggressive cancer subtype prevalent in African American
            patients.
REFERENCE   5  (residues 1 to 1837)
  AUTHORS   Zhang W, Zheng X, Xie S, Zhang S, Mao J, Cai Y, Lu X, Chen W, Ni H
            and Xie L.
  TITLE     TBOPP enhances the anticancer effect of cisplatin by inhibiting
            DOCK1 in renal cell carcinoma
  JOURNAL   Mol Med Rep 22 (2), 1187-1194 (2020)
   PUBMED   32626999
  REMARK    GeneRIF: TBOPP enhances the anticancer effect of cisplatin by
            inhibiting DOCK1 in renal cell carcinoma.
REFERENCE   6  (residues 1 to 1837)
  AUTHORS   Wu YC and Horvitz HR.
  TITLE     C. elegans phagocytosis and cell-migration protein CED-5 is similar
            to human DOCK180
  JOURNAL   Nature 392 (6675), 501-504 (1998)
   PUBMED   9548255
REFERENCE   7  (residues 1 to 1837)
  AUTHORS   Savill,J.
  TITLE     Apoptosis. Phagocytic docking without shocking
  JOURNAL   Nature 392 (6675), 442-443 (1998)
   PUBMED   9548247
REFERENCE   8  (residues 1 to 1837)
  AUTHORS   Takai S, Hasegawa H, Kiyokawa E, Yamada K, Kurata T and Matsuda M.
  TITLE     Chromosomal mapping of the gene encoding DOCK180, a major
            Crk-binding protein, to 10q26.13-q26.3 by fluorescence in situ
            hybridization
  JOURNAL   Genomics 35 (2), 403-404 (1996)
   PUBMED   8661160
REFERENCE   9  (residues 1 to 1837)
  AUTHORS   Matsuda M, Ota S, Tanimura R, Nakamura H, Matuoka K, Takenawa T,
            Nagashima K and Kurata T.
  TITLE     Interaction between the amino-terminal SH3 domain of CRK and its
            natural target proteins
  JOURNAL   J Biol Chem 271 (24), 14468-14472 (1996)
   PUBMED   8662907
REFERENCE   10 (residues 1 to 1837)
  AUTHORS   Hasegawa H, Kiyokawa E, Tanaka S, Nagashima K, Gotoh N, Shibuya M,
            Kurata T and Matsuda M.
  TITLE     DOCK180, a major CRK-binding protein, alters cell morphology upon
            translocation to the cell membrane
  JOURNAL   Mol Cell Biol 16 (4), 1770-1776 (1996)
   PUBMED   8657152
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL607029.17, BX470201.4,
            AL359094.14, AL390920.22, AL157711.12 and AL355316.12.
            
            Summary: This gene encodes a member of the dedicator of cytokinesis
            protein family. Dedicator of cytokinesis proteins act as guanine
            nucleotide exchange factors for small Rho family G proteins. The
            encoded protein regulates the small GTPase Rac, thereby influencing
            several biological processes, including phagocytosis and cell
            migration. Overexpression of this gene has also been associated
            with certain cancers. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Mar 2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.1642855.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157511 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1837
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.2"
     Protein         1..1837
                     /product="dedicator of cytokinesis protein 1 isoform 7"
                     /note="DOwnstream of CrK; 180 kDa protein downstream of
                     CRK"
                     /calculated_mol_wt=212029
     Region          <16..40
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:450141"
     Region          44..388
                     /region_name="DOCK_N"
                     /note="DOCK N-terminus; pfam16172"
                     /db_xref="CDD:435187"
     Region          396..591
                     /region_name="C2_Dock-A"
                     /note="C2 domains found in Dedicator Of CytoKinesis (Dock)
                     class A proteins; cd08694"
                     /db_xref="CDD:176076"
     Region          1186..1584
                     /region_name="DHR2_DOCK1"
                     /note="Dock Homology Region 2, a GEF domain, of Class A
                     Dedicator of Cytokinesis 1; cd11707"
                     /db_xref="CDD:212580"
     Site            order(1270,1277..1279,1281,1283..1284,1286..1287,
                     1290..1291,1293..1294,1297..1298,1301,1388,1391..1394,
                     1397)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:212580"
     Site            order(1336,1338..1341,1357..1359,1376..1378,1411..1414,
                     1425..1426,1429,1468,1472,1492..1493,1495..1496,
                     1500..1501,1504..1510,1513,1543,1559,1561..1562,1565,1568)
                     /site_type="other"
                     /note="Rac binding site [polypeptide binding]"
                     /db_xref="CDD:212580"
     Site            1504..1509
                     /site_type="other"
                     /note="nucleotide sensor"
                     /db_xref="CDD:212580"
     Region          1591..1688
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14185.2)"
     Site            1653
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q14185.2)"
     Region          1659..1667
                     /region_name="Phosphoinositide-binding.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14185.2)"
     Region          1704..1837
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14185.2)"
     Site            1715
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BUR4; propagated from
                     UniProtKB/Swiss-Prot (Q14185.2)"
     Site            1723
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q14185.2)"
     Site            1728
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BUR4; propagated from
                     UniProtKB/Swiss-Prot (Q14185.2)"
     Site            1733
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BUR4; propagated from
                     UniProtKB/Swiss-Prot (Q14185.2)"
     Site            1736
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BUR4; propagated from
                     UniProtKB/Swiss-Prot (Q14185.2)"
     Site            1739
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8BUR4; propagated from
                     UniProtKB/Swiss-Prot (Q14185.2)"
     Site            1744
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8BUR4; propagated from
                     UniProtKB/Swiss-Prot (Q14185.2)"
     Region          1765..1791
                     /region_name="Interaction with NCK2 second and third SH3
                     domain (minor)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14185.2)"
     Region          1771..1777
                     /region_name="SH3-binding, interaction with CRK.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14185.2)"
     Region          1792..1808
                     /region_name="Interaction with NCK2 third SH3 domain
                     (major)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14185.2)"
     Region          1809..1824
                     /region_name="Interaction with NCK2 (minor)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14185.2)"
     Region          1810..1815
                     /region_name="SH3-binding, interaction with CRK.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14185.2)"
     Site            1830
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BUR4; propagated from
                     UniProtKB/Swiss-Prot (Q14185.2)"
     CDS             1..1837
                     /gene="DOCK1"
                     /gene_synonym="ced5; DOCK180"
                     /coded_by="NM_001377548.1:91..5604"
                     /note="isoform 7 is encoded by transcript variant 7"
                     /db_xref="GeneID:1793"
                     /db_xref="HGNC:HGNC:2987"
                     /db_xref="MIM:601403"
ORIGIN      
        1 mtrwvptkre ekygvgwyrg ytlrkkskkg ifpasyihlk eaivegkgqh etvipgdlpl
       61 iqevtttlre wstiwrqlyv qdnremfrsv rhmiydliew rsqilsgtlp qdelkelkkk
      121 vtakidygnr ildldlvvrd edgnildpel tstislfrah eiaskqveer lqeeksqkqn
      181 idinrqakfa atpslalfvn lknvvckige daevlmslyd pveskfisen ylvrwsssgl
      241 pkdidrlhnl ravftdlgsk dlkrekisfv cqivrvgrme lrdnntrklt sglrrpfgva
      301 vmdvtdiing kvddedkqhf ipfqpvagen dflqtvinkv iaakevnhkg qglwvtlkll
      361 pgdihqirke fphlvdrtta varktgfpei impgdvrndi yvtlvqgdfd kgskttaknv
      421 evtvsvyded gkrlehvifp gagdeaisey ksviyyqvkq prwfetvkva ipiedvnrsh
      481 lrftfrhrss qdskdkseki falafvklmr ydgttlrdge hdlivykaea kkledaatyl
      541 slpstkaele ekghsatgks mqslgsctis kdsfqistlv cstkltqnvd llgllkwrsn
      601 tsllqqnlrq lmkvdggevv kflqdtldal fnimmenses etfdtlvfda lvfiigliad
      661 rkfqhfnpvl etyikkhfsa tlaytkltkv lknyvdgaek pgvneqlyka mkalesifkf
      721 ivrsrilfnq lyenkgeadf vesllqlfrs indmmssmsd qtvrvkgaal kylptivndv
      781 klvfdpkels kmftefilnv pmglltiqkl yclieivhsd lftqhdcrei llpmmtdqlk
      841 yhlerqedle accqllshil evlyrkdvgp tqrhvqiime kllrtvnrtv ismgrdseli
      901 gnfvacmtai lrqmedyhya hliktfgkmr tdvvdflmet fimfknligk nvypfdwvim
      961 nmvqnkvflr ainqyadmln kkfldqanfe lqlwnnyfhl avafltqesl qlenfssakr
     1021 akilnkygdm rrqigfeird mwynlgqhki kfipemvgpi lemtlipete lrkatipiff
     1081 dmmqcefhst rsfqmfenei itkldheveg grgdeqykvl fdkillehcr khkylaktge
     1141 tfvklvvrlm erlldyrtim hdenkenrms ctvnvlnfyk eiereemyir ylyklcdlhk
     1201 ecdnyteaay tlllhakllk wsedvcvahl tqrdgyqatt qgqlkeqlyq eiihyfdkgk
     1261 mweeaialgk elaeqyenem fdyeqlsell kkqaqfyeni vkvirpkpdy favgyygqgf
     1321 ptflrgkvfi yrgkeyerre dfearlltqf pnaekmktts ppgddiknsp gqyiqcftvk
     1381 pkldlppkfh rpvseqivsf yrvnevqrfe ysrpirkgek npdnefanmw iertiyttay
     1441 klpgilrwfe vksvfmveis plenaietmq ltndkinsmv qqhlddpslp inplsmllng
     1501 ivdpavmggf anyekafftd rylqehpeah ekieklkdli awqipflaeg irihgdkvte
     1561 alrpfherme acfkqlkekv ekeygvrimp sslddrrgsr prsmvrsftm psssrplsva
     1621 svsslssdst psrpgsdgfa lepllpkkmh srsqdkldkd dlekekkdkk kekrnskhqe
     1681 ifekefkptd islqqseavi lsetisplrp qrpksqvmnv igserrfsvs psspssqqtp
     1741 ppvtprakls fsmqssleln gmtgadvadv ppplplkgsv adygnlmenq dllgsptppp
     1801 ppphqrhlpp plpsktpppp ppkttrkqas vdsgivq
//
LOCUS       NP_001269399             956 aa            linear   PRI 29-DEC-2022
DEFINITION  glutamate receptor ionotropic, kainate 4 isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_001269399 XP_005271577
VERSION     NP_001269399.1
DBSOURCE    REFSEQ: accession NM_001282470.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 956)
  AUTHORS   Herbrechter R, Hube N, Buchholz R and Reiner A.
  TITLE     Splicing and editing of ionotropic glutamate receptors: a
            comprehensive analysis based on human RNA-Seq data
  JOURNAL   Cell Mol Life Sci 78 (14), 5605-5630 (2021)
   PUBMED   34100982
REFERENCE   2  (residues 1 to 956)
  AUTHORS   Pu M, Wang X and Zhang J.
  TITLE     Impact of GRIK4 gene polymorphisms on cognitive dysfunction in
            patients with major depression
  JOURNAL   Rev Neurol (Paris) 176 (10), 823-828 (2020)
   PUBMED   32245654
  REMARK    GeneRIF: Impact of GRIK4 gene polymorphisms on cognitive
            dysfunction in patients with major depression.
REFERENCE   3  (residues 1 to 956)
  AUTHORS   Poweleit EA, Aldrich SL, Martin LJ, Hahn D, Strawn JR and Ramsey
            LB.
  TITLE     Pharmacogenetics of Sertraline Tolerability and Response in
            Pediatric Anxiety and Depressive Disorders
  JOURNAL   J Child Adolesc Psychopharmacol 29 (5), 348-361 (2019)
   PUBMED   31066578
  REMARK    GeneRIF: In addition, while GRIK4 was not associated with
            sertraline tolerability and response, both HTR2A and SLC6A4 could
            influence tolerability and accelerate treatment response in
            pediatric patients.
REFERENCE   4  (residues 1 to 956)
  AUTHORS   Koromina M, Flitton M, Mellor IR and Knight HM.
  TITLE     A kainate receptor GluK4 deletion, protective against bipolar
            disorder, is associated with enhanced cognitive performance across
            diagnoses in the TwinsUK cohort
  JOURNAL   World J Biol Psychiatry 20 (5), 393-401 (2019)
   PUBMED   29243543
  REMARK    GeneRIF: GluK4 deletion carriers who had a mental health problem
            (predominately depression) showed better performance in
            visuo-spatial ability and mental processing speed compared to
            individuals with mental health problems homozygous for the
            insertion.
REFERENCE   5  (residues 1 to 956)
  AUTHORS   Ren D, Xu F, Bi Y, Niu W, Zhang R, Hu J, Guo Z, Cao Y, Huang X, Wu
            X, Yang F, Wang L, Li W, Xu Y, He L, Yu T, Li X and He G.
  TITLE     No association of GRIK4 polymorphisms with schizophrenia in the
            Chinese Han population
  JOURNAL   Psychiatr Genet 27 (4), 159-160 (2017)
   PUBMED   28658089
  REMARK    GeneRIF: the GRIK4 polymorphisms genotypes were distributed as
            follows: rs79526501: CC696: 16, CG302: 274, GG31: 35; rs11218016:
            CC455: 483, CT473: 436, TT101: 108; and rs6589847: AA32: 29, AG307:
            314, GG690: 686. However, there was no significant difference in
            allelic or genotypic frequency distributions between patients and
            controls. We did not find any significant association between GRIK4
            polymorphisms and schizophrenia.
REFERENCE   6  (residues 1 to 956)
  AUTHORS   Darstein M, Petralia RS, Swanson GT, Wenthold RJ and Heinemann SF.
  TITLE     Distribution of kainate receptor subunits at hippocampal mossy
            fiber synapses
  JOURNAL   J Neurosci 23 (22), 8013-8019 (2003)
   PUBMED   12954862
REFERENCE   7  (residues 1 to 956)
  AUTHORS   Ritter LM, Unis AS and Meador-Woodruff JH.
  TITLE     Ontogeny of ionotropic glutamate receptor expression in human fetal
            brain
  JOURNAL   Brain Res Dev Brain Res 127 (2), 123-133 (2001)
   PUBMED   11334999
REFERENCE   8  (residues 1 to 956)
  AUTHORS   Szpirer C, Molne M, Antonacci R, Jenkins NA, Finelli P, Szpirer J,
            Riviere M, Rocchi M, Gilbert DJ, Copeland NG et al.
  TITLE     The genes encoding the glutamate receptor subunits KA1 and KA2
            (GRIK4 and GRIK5) are located on separate chromosomes in human,
            mouse, and rat
  JOURNAL   Proc Natl Acad Sci U S A 91 (25), 11849-11853 (1994)
   PUBMED   7527545
REFERENCE   9  (residues 1 to 956)
  AUTHORS   Wenthold RJ, Trumpy VA, Zhu WS and Petralia RS.
  TITLE     Biochemical and assembly properties of GluR6 and KA2, two members
            of the kainate receptor family, determined with subunit-specific
            antibodies
  JOURNAL   J Biol Chem 269 (2), 1332-1339 (1994)
   PUBMED   8288598
REFERENCE   10 (residues 1 to 956)
  AUTHORS   Kamboj RK, Schoepp DD, Nutt S, Shekter L, Korczak B, True RA,
            Rampersad V, Zimmerman DM and Wosnick MA.
  TITLE     Molecular cloning, expression, and pharmacological characterization
            of humEAA1, a human kainate receptor subunit
  JOURNAL   J Neurochem 62 (1), 1-9 (1994)
   PUBMED   8263508
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002348.3, AK314284.1,
            AK292726.1, AP001929.5 and AW016926.1.
            On Sep 11, 2013 this sequence version replaced XP_005271577.1.
            
            Summary: This gene encodes a protein that belongs to the
            glutamate-gated ionic channel family. Glutamate functions as the
            major excitatory neurotransmitter in the central nervous system
            through activation of ligand-gated ion channels and G
            protein-coupled membrane receptors. The protein encoded by this
            gene forms functional heteromeric kainate-preferring ionic channels
            with the subunits encoded by related gene family members.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Sep
            2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Both this variant and variant 2 encode the same isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK314284.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..956
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     Protein         1..956
                     /product="glutamate receptor ionotropic, kainate 4 isoform
                     1 precursor"
                     /note="excitatory amino acid receptor 1; glutamate
                     receptor KA1; glutamate receptor, ionotropic, kainate 4;
                     putative NMDtranscript(altAcc_e11); GluK4(alt_5'UTR)"
                     /calculated_mol_wt=105097
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2167
     mat_peptide     21..956
                     /product="Glutamate receptor ionotropic, kainate 4.
                     /id=PRO_0000011549"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16099.2)"
                     /calculated_mol_wt=105097
     Region          24..402
                     /region_name="PBP1_iGluR_Kainate_KA1_2"
                     /note="N-terminal leucine-isoleucine-valine binding
                     protein (LIVBP)-like domain of the KA1 and KA2 subunits of
                     Kainate receptor; cd06394"
                     /db_xref="CDD:380616"
     Site            order(75..77,81,113,166,169,173,176,179..180,190..193)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:380616"
     Site            158
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q16099.2)"
     Site            220
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q16099.2)"
     Site            272
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q16099.2)"
     Site            286
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q16099.2)"
     Site            323
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q16099.2)"
     Site            408
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q16099.2)"
     Region          415..785
                     /region_name="PBP2_iGluR_kainate_KA1"
                     /note="The ligand-binding domain of the kainate subtype
                     KA1 of ionotropic glutamate receptors, a member of the
                     type 2 periplasmic-binding fold protein superfamily;
                     cd13724"
                     /db_xref="CDD:270442"
     Site            415
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q16099.2)"
     Site            order(417,424,431,462..463,468..469)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:270442"
     Site            order(473,500..502,507)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270442"
     Site            479
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q16099.2)"
     Site            546..566
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16099.2)"
     Site            624..644
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16099.2)"
     Site            736
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q16099.2)"
     Site            805..825
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16099.2)"
     Region          863..889
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16099.2)"
     Region          931..956
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16099.2)"
     CDS             1..956
                     /gene="GRIK4"
                     /gene_synonym="EAA1; GluK4; GluK4-2; GRIK; KA1"
                     /coded_by="NM_001282470.3:343..3213"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS8433.1"
                     /db_xref="GeneID:2900"
                     /db_xref="HGNC:HGNC:4582"
                     /db_xref="MIM:600282"
ORIGIN      
        1 mprvsaplvl lpawlvmvac sphslriaai lddpmecsrg erlsitlakn rinraperlg
       61 kakvevdife llrdseyeta etmcqilpkg vvavlgpsss passsiisni cgekevphfk
      121 vapeefvkfq fqrfttlnlh psntdisvav agilnffnct taclicakae cllnlekllr
      181 qfliskdtls vrmlddtrdp tpllkeirdd ktatiiihan asmshtillk aaelgmvsay
      241 ytyiftnlef slqrmdslvd drvnilgfsi fnqshaffqe faqslnqswq encdhvpftg
      301 palssallfd avyavvtavq elnrsqeigv kplscgsaqi wqhgtslmny lrmveleglt
      361 ghiefnskgq rsnyalkilq ftrngfrqig qwhvaeglsm dshlyasnis dtlfnttlvv
      421 ttilenpylm lkgnhqemeg ndryegfcvd mlkelaeilr fnykirlvgd gvygvpeang
      481 twtgmvgeli arkadlavag ltitaerekv idfskpfmtl gisilyrvhm grkpgyfsfl
      541 dpfspgvwlf mllaylavsc vlflvarltp yewysphpca qgrcnllvnq yslgnslwfp
      601 vggfmqqgst iapralstrc vsgvwwaftl iiissytanl aafltvqrmd vpiesvddla
      661 dqtaieygti hggssmtffq nsryqtyqrm wnymyskqps vfvksteegi arvlnsnyaf
      721 llestmneyy rqrncnltqi gglldtkgyg igmpvgsvfr defdlailql qennrleilk
      781 rkwweggkcp keedhrakgl gmeniggifv vlicglivai fmamleflwt lrhseatevs
      841 vcqemvtelr siilcqdsih prrrraavpp prppipeerr prgtatlsng klcgagepdq
      901 laqrlaqeaa lvargcthir vcpecrrfqg lrarpspars eeslewektt nssepe
//
LOCUS       NP_001256970             177 aa            linear   PRI 30-DEC-2022
DEFINITION  DPY30 domain-containing protein 2 isoform 1 [Homo sapiens].
ACCESSION   NP_001256970
VERSION     NP_001256970.1
DBSOURCE    REFSEQ: accession NM_001270041.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 177)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 177)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 177)
  AUTHORS   Kuhl A, Melberg A, Meinl E, Nurnberg G, Nurnberg P, Kehrer-Sawatzki
            H and Jenne DE.
  TITLE     Myofibrillar myopathy with arrhythmogenic right ventricular
            cardiomyopathy 7: corroboration and narrowing of the critical
            region on 10q22.3
  JOURNAL   Eur J Hum Genet 16 (3), 367-373 (2008)
   PUBMED   18197198
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA590784.1 and BC018606.2.
            
            Summary: This gene encodes a member of a family of proteins that
            contains a DPY30 domain. This gene locus overlaps with a closely
            related gene on the opposite strand. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Jun 2012].
            
            Transcript Variant: This variant (2) lacks an exon in the 5' UTR,
            compared to variant 1. Variants 1 and 2 encode the same protein
            (isoform 1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.464959.1,
                                           ERR4352443.359624.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..177
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.1"
     Protein         1..177
                     /product="DPY30 domain-containing protein 2 isoform 1"
                     /note="DPY30 domain-containing protein 2"
                     /calculated_mol_wt=20455
     Region          2..45
                     /region_name="DD_DYDC-like"
                     /note="dimerization/docking (D/D) domain found in the
                     DPY30 domain-containing protein (DYDC)-like family;
                     cd22966"
                     /db_xref="CDD:438535"
     CDS             1..177
                     /gene="DYDC2"
                     /coded_by="NM_001270041.2:55..588"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS7367.1"
                     /db_xref="GeneID:84332"
                     /db_xref="HGNC:HGNC:23468"
ORIGIN      
        1 metnylkrcf gnclaqalae vakvrpsdpi eylahwlyhy rktakakeen rekkihlqee
       61 ydsslkemem temlkqeeyq iqqncekchk eltsetvstk ktifmqedtn plekealkqe
      121 flpgtsslip gmpqqvppse sagqidqnfk mpqeinykea fqhevahemp pgskspf
//
LOCUS       NP_001380489             392 aa            linear   PRI 31-DEC-2022
DEFINITION  myocyte-specific enhancer factor 2A isoform 13 [Homo sapiens].
ACCESSION   NP_001380489
VERSION     NP_001380489.1
DBSOURCE    REFSEQ: accession NM_001393560.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 392)
  AUTHORS   Gao Y, Liu Y, Zheng D, Ho C, Wen D, Sun J, Huang L, Liu Y, Li Q and
            Zhang Y.
  TITLE     HDAC5-mediated Smad7 silencing through MEF2A is critical for
            fibroblast activation and hypertrophic scar formation
  JOURNAL   Int J Biol Sci 18 (15), 5724-5739 (2022)
   PUBMED   36263180
  REMARK    GeneRIF: HDAC5-mediated Smad7 silencing through MEF2A is critical
            for fibroblast activation and hypertrophic scar formation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 392)
  AUTHORS   Zhang D, Zhang G, Yu K, Zhang X and Jiang A.
  TITLE     MiRNA-615-3p Alleviates Oxidative Stress Injury of Human
            Cardiomyocytes Via PI3K/Akt Signaling by Targeting MEF2A
  JOURNAL   Anatol J Cardiol 26 (5), 373-381 (2022)
   PUBMED   35552173
  REMARK    GeneRIF: MiRNA-615-3p Alleviates Oxidative Stress Injury of Human
            Cardiomyocytes Via PI3K/Akt Signaling by Targeting MEF2A.
REFERENCE   3  (residues 1 to 392)
  AUTHORS   Cilenti F, Barbiera G, Caronni N, Iodice D, Montaldo E, Barresi S,
            Lusito E, Cuzzola V, Vittoria FM, Mezzanzanica L, Miotto P, Di
            Lucia P, Lazarevic D, Cirillo DM, Iannacone M, Genua M and Ostuni
            R.
  TITLE     A PGE2-MEF2A axis enables context-dependent control of inflammatory
            gene expression
  JOURNAL   Immunity 54 (8), 1665-1682 (2021)
   PUBMED   34129840
  REMARK    GeneRIF: A PGE2-MEF2A axis enables context-dependent control of
            inflammatory gene expression.
REFERENCE   4  (residues 1 to 392)
  AUTHORS   Xiao Q, Gan Y, Li Y, Fan L, Liu J, Lu P, Liu J, Chen A, Shu G and
            Yin G.
  TITLE     MEF2A transcriptionally upregulates the expression of ZEB2 and
            CTNNB1 in colorectal cancer to promote tumor progression
  JOURNAL   Oncogene 40 (19), 3364-3377 (2021)
   PUBMED   33863999
  REMARK    GeneRIF: MEF2A transcriptionally upregulates the expression of ZEB2
            and CTNNB1 in colorectal cancer to promote tumor progression.
REFERENCE   5  (residues 1 to 392)
  AUTHORS   Chen W, Zhang K, Yang Y, Guo Z, Wang X, Teng B, Zhao Q, Huang C and
            Qiu Z.
  TITLE     MEF2A-mediated lncRNA HCP5 Inhibits Gastric Cancer Progression via
            MiR-106b-5p/p21 Axis
  JOURNAL   Int J Biol Sci 17 (2), 623-634 (2021)
   PUBMED   33613117
  REMARK    GeneRIF: MEF2A-mediated lncRNA HCP5 Inhibits Gastric Cancer
            Progression via MiR-106b-5p/p21 Axis.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 392)
  AUTHORS   Han TH and Prywes R.
  TITLE     Regulatory role of MEF2D in serum induction of the c-jun promoter
  JOURNAL   Mol Cell Biol 15 (6), 2907-2915 (1995)
   PUBMED   7760790
REFERENCE   7  (residues 1 to 392)
  AUTHORS   Kaushal S, Schneider JW, Nadal-Ginard B and Mahdavi V.
  TITLE     Activation of the myogenic lineage by MEF2A, a factor that induces
            and cooperates with MyoD
  JOURNAL   Science 266 (5188), 1236-1240 (1994)
   PUBMED   7973707
REFERENCE   8  (residues 1 to 392)
  AUTHORS   Funk WD and Wright WE.
  TITLE     Cyclic amplification and selection of targets for multicomponent
            complexes: myogenin interacts with factors recognizing binding
            sites for basic helix-loop-helix, nuclear factor 1,
            myocyte-specific enhancer-binding factor 2, and COMP1 factor
  JOURNAL   Proc Natl Acad Sci U S A 89 (20), 9484-9488 (1992)
   PUBMED   1329097
REFERENCE   9  (residues 1 to 392)
  AUTHORS   Yu YT, Breitbart RE, Smoot LB, Lee Y, Mahdavi V and Nadal-Ginard B.
  TITLE     Human myocyte-specific enhancer factor 2 comprises a group of
            tissue-restricted MADS box transcription factors
  JOURNAL   Genes Dev 6 (9), 1783-1798 (1992)
   PUBMED   1516833
REFERENCE   10 (residues 1 to 392)
  AUTHORS   Pollock R and Treisman R.
  TITLE     Human SRF-related proteins: DNA-binding properties and potential
            regulatory targets
  JOURNAL   Genes Dev 5 (12A), 2327-2341 (1991)
   PUBMED   1748287
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC103967.4 and AC022692.11.
            
            Summary: The protein encoded by this gene is a DNA-binding
            transcription factor that activates many muscle-specific, growth
            factor-induced, and stress-induced genes. The encoded protein can
            act as a homodimer or as a heterodimer and is involved in several
            cellular processes, including muscle development, neuronal
            differentiation, cell growth control, and apoptosis. Defects in
            this gene could be a cause of autosomal dominant coronary artery
            disease 1 with myocardial infarction (ADCAD1). Several transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Jan 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.4537629.1,
                                           SRR14038195.1798613.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..392
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     Protein         1..392
                     /product="myocyte-specific enhancer factor 2A isoform 13"
                     /note="MADS box transcription enhancer factor 2,
                     polypeptide A (myocyte enhancer factor 2A);
                     myocyte-specific enhancer factor 2A; serum response
                     factor-like protein 1"
                     /calculated_mol_wt=42689
     Region          1..309
                     /region_name="ARG80"
                     /note="Regulator of arginine metabolism and related MADS
                     box-containing transcription factors [Transcription];
                     COG5068"
                     /db_xref="CDD:227400"
     Region          2..78
                     /region_name="MADS_MEF2_like"
                     /note="MEF2 (myocyte enhancer factor 2)-like/Type II
                     subfamily of MADS (MCM1, Agamous, Deficiens, and SRF
                     (serum response factor) box family of eukaryotic
                     transcriptional regulators. Binds DNA and exists as hetero
                     and homo-dimers. Differs from SRF-like/Type I...; cd00265"
                     /db_xref="CDD:238165"
     Site            order(2..4,6,8,13,15,19..20,23..24,26..27,30..31,33..34,
                     38)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238165"
     Site            order(21,28..29,32..33,35..36,39,44,46,48,54,56,62,65..66,
                     69,72..73)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238165"
     Site            59
                     /site_type="other"
                     /note="putative phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:238165"
     CDS             1..392
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /coded_by="NM_001393560.2:346..1524"
                     /note="isoform 13 is encoded by transcript variant 26"
                     /db_xref="GeneID:4205"
                     /db_xref="HGNC:HGNC:6993"
                     /db_xref="MIM:600660"
ORIGIN      
        1 mgrkkiqitr imdernrqvt ftkrkfglmk kayelsvlcd ceialiifns snklfqyast
       61 dmdkvllkyt eynephesrt nsdivetlrk kglngcespd addyfehspl sedrfsklne
      121 dsdfifkrgp pglppqnfsm svtvpvtspn alsytnpgss lvspslaass tltdssmlsp
      181 pqttlhrnvs pgapqrppst gnaggmlstt dltvpngags spvdysltsa dlsalqgfns
      241 pgmlslgqvs awqqhhlgqa alsslvaggq lsqgsnlsin tnqnisikse pispprdrmt
      301 psgfqqqqqq qqqqqppppp qpqpqppqpq prqemgrspv dslssssssy dgsdredprg
      361 dfhspivlgr ppntedresp svkrmrmdaw vt
//
LOCUS       NP_001386848             583 aa            linear   PRI 01-JAN-2023
DEFINITION  methyl-CpG-binding domain protein 1 isoform 74 [Homo sapiens].
ACCESSION   NP_001386848
VERSION     NP_001386848.1
DBSOURCE    REFSEQ: accession NM_001399919.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 583)
  AUTHORS   Xu WY, Hu QS, Qin Y, Zhang B, Liu WS, Ni QX, Xu J and Yu XJ.
  TITLE     Zinc finger E-box-binding homeobox 1 mediates aerobic glycolysis
            via suppression of sirtuin 3 in pancreatic cancer
  JOURNAL   World J Gastroenterol 24 (43), 4893-4905 (2018)
   PUBMED   30487699
  REMARK    GeneRIF: ZEB1 silenced SIRT3 expression via interaction with MBD1
            to promote aerobic glycolysis in pancreatic cancer.
REFERENCE   2  (residues 1 to 583)
  AUTHORS   Xu C, Liu K, Lei M, Yang A, Li Y, Hughes TR and Min J.
  TITLE     DNA Sequence Recognition of Human CXXC Domains and Their Structural
            Determinants
  JOURNAL   Structure 26 (1), 85-95 (2018)
   PUBMED   29276034
REFERENCE   3  (residues 1 to 583)
  AUTHORS   Zhang P, Rausch C, Hastert FD, Boneva B, Filatova A, Patil SJ,
            Nuber UA, Gao Y, Zhao X and Cardoso MC.
  TITLE     Methyl-CpG binding domain protein 1 regulates localization and
            activity of Tet1 in a CXXC3 domain-dependent manner
  JOURNAL   Nucleic Acids Res 45 (12), 7118-7136 (2017)
   PUBMED   28449087
  REMARK    GeneRIF: MBD1 regulates localization and activity of Tet1 in a
            CXXC3 domain-dependent manner.
REFERENCE   4  (residues 1 to 583)
  AUTHORS   Qi L and Ding Y.
  TITLE     Screening of Tumor Suppressor Genes in Metastatic Colorectal Cancer
  JOURNAL   Biomed Res Int 2017, 2769140 (2017)
   PUBMED   28473981
  REMARK    GeneRIF: MBD1 may be a tumor suppressor gene in advanced colorectal
            cancer (CRC)and affect the development and metastasis of CRC by
            regulating 8 tumor suppressor genes through binding with SP1.
REFERENCE   5  (residues 1 to 583)
  AUTHORS   Ohki I, Shimotake N, Fujita N, Nakao M and Shirakawa M.
  TITLE     Solution structure of the methyl-CpG-binding domain of the
            methylation-dependent transcriptional repressor MBD1
  JOURNAL   EMBO J 18 (23), 6653-6661 (1999)
   PUBMED   10581239
REFERENCE   6  (residues 1 to 583)
  AUTHORS   Fujita N, Takebayashi S, Okumura K, Kudo S, Chiba T, Saya H and
            Nakao M.
  TITLE     Methylation-mediated transcriptional silencing in euchromatin by
            methyl-CpG binding protein MBD1 isoforms
  JOURNAL   Mol Cell Biol 19 (9), 6415-6426 (1999)
   PUBMED   10454587
REFERENCE   7  (residues 1 to 583)
  AUTHORS   Hendrich B, Abbott C, McQueen H, Chambers D, Cross S and Bird A.
  TITLE     Genomic structure and chromosomal mapping of the murine and human
            Mbd1, Mbd2, Mbd3, and Mbd4 genes
  JOURNAL   Mamm Genome 10 (9), 906-912 (1999)
   PUBMED   10441743
REFERENCE   8  (residues 1 to 583)
  AUTHORS   Ueba T, Kaspar B, Zhao X and Gage FH.
  TITLE     Repression of human fibroblast growth factor 2 by a novel
            transcription factor
  JOURNAL   J Biol Chem 274 (15), 10382-10387 (1999)
   PUBMED   10187827
REFERENCE   9  (residues 1 to 583)
  AUTHORS   Hendrich B and Bird A.
  TITLE     Identification and characterization of a family of mammalian
            methyl-CpG binding proteins
  JOURNAL   Mol Cell Biol 18 (11), 6538-6547 (1998)
   PUBMED   9774669
REFERENCE   10 (residues 1 to 583)
  AUTHORS   Cross SH, Meehan RR, Nan X and Bird A.
  TITLE     A component of the transcriptional repressor MeCP1 shares a motif
            with DNA methyltransferase and HRX proteins
  JOURNAL   Nat Genet 16 (3), 256-259 (1997)
   PUBMED   9207790
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090246.9.
            
            Summary: The protein encoded by this gene is a member of a family
            of nuclear proteins related by the presence of a methyl-CpG binding
            domain (MBD). These proteins are capable of binding specifically to
            methylated DNA, and some members can also repress transcription
            from methylated gene promoters. This protein contains multiple
            domains: MBD at the N-terminus that functions both in binding to
            methylated DNA and in protein interactions; several CXXC-type zinc
            finger domains that mediate binding to non-methylated CpG
            dinucleotides; transcriptional repression domain (TRD) at the
            C-terminus that is involved in transcription repression and in
            protein interactions. Numerous alternatively spliced transcript
            variants encoding different isoforms have been noted for this
            gene.[provided by RefSeq, Feb 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..583
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     Protein         1..583
                     /product="methyl-CpG-binding domain protein 1 isoform 74"
                     /note="the regulator of fibroblast growth factor 2 (FGF-2)
                     transcription; CXXC-type zinc finger protein 3; protein
                     containing methyl-CpG-binding domain 1"
                     /calculated_mol_wt=63850
     Region          3..76
                     /region_name="MBD"
                     /note="Methyl-CpG binding domain; smart00391"
                     /db_xref="CDD:128673"
     Site            order(18,20,22,30,32,41,44,48)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238690"
     Region          168..215
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     Region          217..262
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     CDS             1..583
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /coded_by="NM_001399919.1:187..1938"
                     /note="isoform 74 is encoded by transcript variant 97"
                     /db_xref="GeneID:4152"
                     /db_xref="HGNC:HGNC:6916"
                     /db_xref="MIM:156535"
ORIGIN      
        1 maedwldcpa lgpgwkrrev frksgatcgr sdtyyqsptg drirskvelt rylgpacdlt
       61 lfdfkqgilc ypapkahpva vaskkrkkps rpaktrkrqv gpqsgevrke aprdetkadt
      121 dtapasfpap gccencgisf sgdgtqrqrl ktlckdcraq riafnreqrm fkrvgcgeca
      181 acqvtedcga cstcllqlph dvasglfckc errrclrive rsrgcgvcrg cqtqedcghc
      241 piclrpprpg lrrqwkcvqr rclrhlahrl rrrhqrcqrr tplavapptg kharrkggcd
      301 skmaarrrpg aqplppppps qspeptepkr llpsvwsese dgagspppyr rrkrpssarr
      361 hhlgptlkpt latrtaqpdh tqaptkqeag ggfvlpppgt dlvflregas spvqvpgpva
      421 asteallqea qcsglswvva lpqvkqekad tqdewtpgta vltspvlvpg cpskavdpgl
      481 psvkqeppdp eedkeenkdd sasklapeee aggagtpvit eifslggtrf rdtavwlpra
      541 gtregkmdvk cgrprtqwsp raragthedg lepmsvshhl qlr
//
LOCUS       NP_004074                169 aa            linear   PRI 01-JAN-2023
DEFINITION  DNA damage-inducible transcript 3 protein isoform 2 [Homo sapiens].
ACCESSION   NP_004074
VERSION     NP_004074.2
DBSOURCE    REFSEQ: accession NM_004083.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 169)
  AUTHORS   Berastegui N, Ainciburu M, Romero JP, Garcia-Olloqui P,
            Alfonso-Pierola A, Philippe C, Vilas-Zornoza A, San Martin-Uriz P,
            Ruiz-Hernandez R, Abarrategi A, Ordonez R, Alignani D, Sarvide S,
            Castro-Labrador L, Lamo-Espinosa JM, San-Julian M, Jimenez T,
            Lopez-Cadenas F, Muntion S, Sanchez-Guijo F, Molero A, Montoro MJ,
            Tazon B, Serrano G, Diaz-Mazkiaran A, Hernaez M, Huerga S,
            Bewicke-Copley F, Rio-Machin A, Maurano MT, Diez-Campelo M,
            Valcarcel D, Rouault-Pierre K, Lara-Astiaso D, Ezponda T and
            Prosper F.
  TITLE     The transcription factor DDIT3 is a potential driver of
            dyserythropoiesis in myelodysplastic syndromes
  JOURNAL   Nat Commun 13 (1), 7619 (2022)
   PUBMED   36494342
  REMARK    GeneRIF: The transcription factor DDIT3 is a potential driver of
            dyserythropoiesis in myelodysplastic syndromes.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 169)
  AUTHORS   Kim K, Ryu TY, Lee J, Son MY, Kim DS, Kim SK and Cho HS.
  TITLE     Epigenetic Silencing of CHOP Expression by the Histone
            Methyltransferase EHMT1 Regulates Apoptosis in Colorectal Cancer
            Cells
  JOURNAL   Mol Cells 45 (9), 622-630 (2022)
   PUBMED   35748228
  REMARK    GeneRIF: Epigenetic Silencing of CHOP Expression by the Histone
            Methyltransferase EHMT1 Regulates Apoptosis in Colorectal Cancer
            Cells.
REFERENCE   3  (residues 1 to 169)
  AUTHORS   Zhang B, Cao JT, Wu YB, Gao KX, Xie M, Zhou ZK, Tang J and Hou SS.
  TITLE     Riboflavin (Vitamin B2) Deficiency Induces Apoptosis Mediated by
            Endoplasmic Reticulum Stress and the CHOP Pathway in HepG2 Cells
  JOURNAL   Nutrients 14 (16), 3356 (2022)
   PUBMED   36014863
  REMARK    GeneRIF: Riboflavin (Vitamin B2) Deficiency Induces Apoptosis
            Mediated by Endoplasmic Reticulum Stress and the CHOP Pathway in
            HepG2 Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 169)
  AUTHORS   Park KM, Park JY, Pyo J, Lee SY and Kim HS.
  TITLE     Induction of DR5-Dependent Apoptosis by PGA2 through ATF4-CHOP
            Pathway
  JOURNAL   Molecules 27 (12), 3804 (2022)
   PUBMED   35744931
  REMARK    GeneRIF: Induction of DR5-Dependent Apoptosis by PGA2 through
            ATF4-CHOP Pathway.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 169)
  AUTHORS   Palam LR, Baird TD and Wek RC.
  TITLE     Phosphorylation of eIF2 facilitates ribosomal bypass of an
            inhibitory upstream ORF to enhance CHOP translation
  JOURNAL   J Biol Chem 286 (13), 10939-10949 (2011)
   PUBMED   21285359
REFERENCE   6  (residues 1 to 169)
  AUTHORS   Jousse C, Bruhat A, Carraro V, Urano F, Ferrara M, Ron D and
            Fafournoux P.
  TITLE     Inhibition of CHOP translation by a peptide encoded by an open
            reading frame localized in the chop 5'UTR
  JOURNAL   Nucleic Acids Res 29 (21), 4341-4351 (2001)
   PUBMED   11691921
REFERENCE   7  (residues 1 to 169)
  AUTHORS   Aman P, Ron D, Mandahl N, Fioretos T, Heim S, Arheden K, Willen H,
            Rydholm A and Mitelman F.
  TITLE     Rearrangement of the transcription factor gene CHOP in myxoid
            liposarcomas with t(12;16)(q13;p11)
  JOURNAL   Genes Chromosomes Cancer 5 (4), 278-285 (1992)
   PUBMED   1283316
REFERENCE   8  (residues 1 to 169)
  AUTHORS   Park JS, Luethy JD, Wang MG, Fargnoli J, Fornace AJ Jr, McBride OW
            and Holbrook NJ.
  TITLE     Isolation, characterization and chromosomal localization of the
            human GADD153 gene
  JOURNAL   Gene 116 (2), 259-267 (1992)
   PUBMED   1339368
REFERENCE   9  (residues 1 to 169)
  AUTHORS   Ron D and Habener JF.
  TITLE     CHOP, a novel developmentally regulated nuclear protein that
            dimerizes with transcription factors C/EBP and LAP and functions as
            a dominant-negative inhibitor of gene transcription
  JOURNAL   Genes Dev 6 (3), 439-453 (1992)
   PUBMED   1547942
REFERENCE   10 (residues 1 to 169)
  AUTHORS   Papathanasiou MA, Kerr NC, Robbins JH, McBride OW, Alamo I Jr,
            Barrett SF, Hickson ID and Fornace AJ Jr.
  TITLE     Induction by ionizing radiation of the gadd45 gene in cultured
            human cells: lack of mediation by protein kinase C
  JOURNAL   Mol Cell Biol 11 (2), 1009-1016 (1991)
   PUBMED   1990262
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022506.38.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 10, 2002 this sequence version replaced NP_004074.1.
            
            Summary: This gene encodes a member of the CCAAT/enhancer-binding
            protein (C/EBP) family of transcription factors. The protein
            functions as a dominant-negative inhibitor by forming heterodimers
            with other C/EBP members, such as C/EBP and LAP (liver activator
            protein), and preventing their DNA binding activity. The protein is
            implicated in adipogenesis and erythropoiesis, is activated by
            endoplasmic reticulum stress, and promotes apoptosis. Fusion of
            this gene and FUS on chromosome 16 or EWSR1 on chromosome 22
            induced by translocation generates chimeric proteins in myxoid
            liposarcomas or Ewing sarcoma. Multiple alternatively spliced
            transcript variants encoding two isoforms with different length
            have been identified. [provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (5) lacks an internal segment in
            the 5' region, resulting in a downstream AUG start codon, as
            compared to variant 1. The resulting isoform (2) is shorter at the
            N-terminus, as compared to isoform 1. Variants 5-8 all encode the
            same isoform (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC003637.2, AL554091.3 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2146411
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000346473.8/ ENSP00000340671.3
            RefSeq Select criteria :: based on conservation, expression
            regulatory uORF        :: PMID: 11691921
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..169
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     Protein         1..169
                     /product="DNA damage-inducible transcript 3 protein
                     isoform 2"
                     /note="CCAAT/enhancer-binding protein homologous protein;
                     growth arrest and DNA damage-inducible protein GADD153;
                     c/EBP-homologous protein 10; alternative DDIT3 protein;
                     C/EBP zeta"
                     /calculated_mol_wt=19044
     Region          10..26
                     /region_name="N-terminal"
                     /note="propagated from UniProtKB/Swiss-Prot (P35638.1)"
     Region          10..18
                     /region_name="Interaction with TRIB3"
                     /note="propagated from UniProtKB/Swiss-Prot (P35638.1)"
     Site            14
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000250|UniProtKB:P35639; propagated from
                     UniProtKB/Swiss-Prot (P35638.1)"
     Site            15
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000250|UniProtKB:P35639; propagated from
                     UniProtKB/Swiss-Prot (P35638.1)"
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000250|UniProtKB:P35639; propagated from
                     UniProtKB/Swiss-Prot (P35638.1)"
     Site            31
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000250|UniProtKB:P35639; propagated from
                     UniProtKB/Swiss-Prot (P35638.1)"
     Region          32..139
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35638.1)"
     Site            79
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK14.
                     /evidence=ECO:0000250|UniProtKB:P35639; propagated from
                     UniProtKB/Swiss-Prot (P35638.1)"
     Site            82
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK14.
                     /evidence=ECO:0000250|UniProtKB:P35639; propagated from
                     UniProtKB/Swiss-Prot (P35638.1)"
     Region          96..159
                     /region_name="BRLZ"
                     /note="basic region leucin zipper; smart00338"
                     /db_xref="CDD:197664"
     Region          101..130
                     /region_name="Basic motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00978"
                     /note="propagated from UniProtKB/Swiss-Prot (P35638.1)"
     Region          102..153
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:269834"
     Site            order(105..106,108..110,112..117,119..121)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:269834"
     Site            order(120,123..124,127..128,130..131,134..135,137..138,
                     141..142,144..145,148..149,151..152)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:269834"
     Region          134..148
                     /region_name="Leucine-zipper.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00978"
                     /note="propagated from UniProtKB/Swiss-Prot (P35638.1)"
     CDS             1..169
                     /gene="DDIT3"
                     /gene_synonym="AltDDIT3; C/EBPzeta; CEBPZ; CHOP; CHOP-10;
                     CHOP10; GADD153"
                     /coded_by="NM_004083.6:178..687"
                     /note="isoform 2 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS8943.1"
                     /db_xref="GeneID:1649"
                     /db_xref="HGNC:HGNC:2726"
                     /db_xref="MIM:126337"
ORIGIN      
        1 maaeslpfsf gtlsswelea wyedlqevls sdenggtyvs ppgneeeesk ifttldpasl
       61 awlteeepep aevtstsqsp hspdssqssl aqeeeeedqg rtrkrkqsgh sparagkqrm
      121 kekeqenerk vaqlaeener lkqeierltr eveatrrali drmvnlhqa
//
LOCUS       NP_001171571             198 aa            linear   PRI 06-JAN-2023
DEFINITION  T-cell surface glycoprotein CD8 beta chain isoform 6 precursor
            [Homo sapiens].
ACCESSION   NP_001171571
VERSION     NP_001171571.1
DBSOURCE    REFSEQ: accession NM_001178100.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 198)
  AUTHORS   Houser MC, Caudle WM, Chang J, Kannarkat GT, Yang Y, Kelly SD,
            Oliver D, Joers V, Shannon KM, Keshavarzian A and Tansey MG.
  TITLE     Experimental colitis promotes sustained, sex-dependent,
            T-cell-associated neuroinflammation and parkinsonian neuropathology
  JOURNAL   Acta Neuropathol Commun 9 (1), 139 (2021)
   PUBMED   34412704
  REMARK    GeneRIF: Experimental colitis promotes sustained, sex-dependent,
            T-cell-associated neuroinflammation and parkinsonian
            neuropathology.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 198)
  AUTHORS   Esgalhado AJ, Reste-Ferreira D, Albino SE, Sousa A, Amaral AP,
            Martinho A, Oliveira IT, Verde I, Lourenco O, Fonseca AM, Cardoso
            EM and Arosa FA.
  TITLE     CD45RA, CD8beta, and IFNgamma Are Potential Immune Biomarkers of
            Human Cognitive Function
  JOURNAL   Front Immunol 11, 592656 (2020)
   PUBMED   33324408
  REMARK    GeneRIF: CD45RA, CD8beta, and IFNgamma Are Potential Immune
            Biomarkers of Human Cognitive Function.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 198)
  AUTHORS   Liu D, Hu Y, Guo Y, Zhu Z, Lu B, Wang X and Huang Y.
  TITLE     Mycoplasma-associated multidrug resistance of hepatocarcinoma cells
            requires the interaction of P37 and Annexin A2
  JOURNAL   PLoS One 12 (10), e0184578 (2017)
   PUBMED   28976984
  REMARK    GeneRIF: results suggest that mycoplasma induces a resistance to
            multiple drugs in hepatocarcinoma cells which required the
            interaction of P37 and Annexin A2. The pathway downstream this
            interaction needs to be explored
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 198)
  AUTHORS   Pascual-Garcia M, Bertolo C, Nieto JC, Serrat N, Espinosa I,
            D'Angelo E, Munoz R, Rovira R, Vidal S and Prat J.
  TITLE     CD8 down-regulation on cytotoxic T lymphocytes of patients with
            endometrioid endometrial carcinomas
  JOURNAL   Hum Pathol 56, 180-188 (2016)
   PUBMED   27346574
  REMARK    GeneRIF: Endometrioid endometrial carcinomas are capable of
            down-regulating CD8 expression by cytotoxic T lymphocytes.
REFERENCE   5  (residues 1 to 198)
  AUTHORS   Thakral D, Dobbins J, Devine L and Kavathas PB.
  TITLE     Differential expression of the human CD8beta splice variants and
            regulation of the M-2 isoform by ubiquitination
  JOURNAL   J Immunol 180 (11), 7431-7442 (2008)
   PUBMED   18490743
  REMARK    GeneRIF: study demonstrated differential mRNA expression patterns
            of CD8beta splice variants in thymocytes and in resting, memory,
            and activated primary CD8(+) T cells
REFERENCE   6  (residues 1 to 198)
  AUTHORS   Nakayama K, Kawachi Y, Tokito S, Minami N, Yamamoto R, Imai T,
            Gachelin G and Nakauchi H.
  TITLE     Recent duplication of the two human CD8 beta-chain genes
  JOURNAL   J Immunol 148 (6), 1919-1927 (1992)
   PUBMED   1541829
REFERENCE   7  (residues 1 to 198)
  AUTHORS   Terry LA, DiSanto JP, Small TN and Flomenberg N.
  TITLE     Differential expression and regulation of the human CD8 alpha and
            CD8 beta chains
  JOURNAL   Tissue Antigens 35 (2), 82-91 (1990)
   PUBMED   2111591
REFERENCE   8  (residues 1 to 198)
  AUTHORS   Parnes JR.
  TITLE     Molecular biology and function of CD4 and CD8
  JOURNAL   Adv Immunol 44, 265-311 (1989)
   PUBMED   2493728
  REMARK    Review article
REFERENCE   9  (residues 1 to 198)
  AUTHORS   Norment AM and Littman DR.
  TITLE     A second subunit of CD8 is expressed in human T cells
  JOURNAL   EMBO J 7 (11), 3433-3439 (1988)
   PUBMED   3145195
REFERENCE   10 (residues 1 to 198)
  AUTHORS   Johnson,P.
  TITLE     A human homolog of the mouse CD8 molecule, Lyt-3: genomic sequence
            and expression
  JOURNAL   Immunogenetics 26 (3), 174-177 (1987)
   PUBMED   3114136
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC405359.1, BC100912.2,
            X13445.1 and AW296309.1.
            
            Summary: The CD8 antigen is a cell surface glycoprotein found on
            most cytotoxic T lymphocytes that mediates efficient cell-cell
            interactions within the immune system. The CD8 antigen, acting as a
            coreceptor, and the T-cell receptor on the T lymphocyte recognize
            antigens displayed by an antigen presenting cell (APC) in the
            context of class I MHC molecules. The functional coreceptor is
            either a homodimer composed of two alpha chains, or a heterodimer
            composed of one alpha and one beta chain. Both alpha and beta
            chains share significant homology to immunoglobulin variable light
            chains. This gene encodes the CD8 beta chain isoforms. Multiple
            alternatively spliced transcript variants encoding distinct
            membrane associated or secreted isoforms have been described. A
            pseudogene, also located on chromosome 2, has been identified.
            [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (6) lacks two exons in the 3'
            coding region, which results in a frameshift, compared to variant
            2. The resulting protein (isoform 6) is shorter and has a distinct
            C-terminus compared to isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC100912.2 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     Protein         1..198
                     /product="T-cell surface glycoprotein CD8 beta chain
                     isoform 6 precursor"
                     /note="CD8 antigen, beta polypeptide 1 (p37); T lymphocyte
                     surface glycoprotein beta chain; Ly-3 homolog; CD8b
                     molecule"
                     /calculated_mol_wt=19866
     sig_peptide     1..21
                     /calculated_mol_wt=2389
     mat_peptide     22..198
                     /product="T-cell surface glycoprotein CD8 beta chain
                     isoform 6"
                     /calculated_mol_wt=19866
     Region          22..135
                     /region_name="IgV_CD8_beta"
                     /note="Immunoglobulin (Ig) variable (V) domain of Cluster
                     of Differentiation (CD) 8 beta chain; cd07700"
                     /db_xref="CDD:409497"
     Region          22..42
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409497"
     Region          22..25
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409497"
     Region          28..32
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409497"
     Region          35..43
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409497"
     Region          43..50
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409497"
     Region          51..59
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409497"
     Region          51..59
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409497"
     Site            order(53,57,67,69,119,126..127)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:409497"
     Region          64..84
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409497"
     Region          65..74
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409497"
     Region          78..83
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409497"
     Region          90..118
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409497"
     Region          98..104
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409497"
     Region          112..119
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409497"
     Region          119..123
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409497"
     Region          124..135
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409497"
     Region          124..135
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409497"
     CDS             1..198
                     /gene="CD8B"
                     /gene_synonym="CD8B1; CD8beta; LEU2; Ly-3; LY3; LYT3; P37"
                     /coded_by="NM_001178100.2:22..618"
                     /note="isoform 6 precursor is encoded by transcript
                     variant 6"
                     /db_xref="CCDS:CCDS54376.1"
                     /db_xref="GeneID:926"
                     /db_xref="HGNC:HGNC:1707"
                     /db_xref="MIM:186730"
ORIGIN      
        1 mrprlwllla aqltvlhgns vlqqtpayik vqtnkmvmls ceakislsnm riywlrqrqa
       61 pssdshhefl alwdsakgti hgeeveqeki avfrdasrfi lnltsvkped sgiyfcmivg
      121 speltfgkgt qlsvvdflpt taqptkkstl kkrvcrlprp etqkglkgkv yqeplspnac
      181 mdttailqph rsclthgs
//
LOCUS       NP_001273634              71 aa            linear   PRI 22-JAN-2023
DEFINITION  ubiquitin-fold modifier 1 isoform 4 [Homo sapiens].
ACCESSION   NP_001273634
VERSION     NP_001273634.1
DBSOURCE    REFSEQ: accession NM_001286705.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 71)
  AUTHORS   Chung CH and Yoo HM.
  TITLE     Emerging role of protein modification by UFM1 in cancer
  JOURNAL   Biochem Biophys Res Commun 633, 61-63 (2022)
   PUBMED   36344165
  REMARK    GeneRIF: Emerging role of protein modification by UFM1 in cancer.
            Review article
REFERENCE   2  (residues 1 to 71)
  AUTHORS   Mao M, Chen Y, Yang J, Cheng Y, Xu L, Ji F, Zhou J, Zhang X, Li Z,
            Chen C, Ju S, Zhang J and Wang L.
  TITLE     Modification of PLAC8 by UFM1 affects tumorous proliferation and
            immune response by impacting PD-L1 levels in triple-negative breast
            cancer
  JOURNAL   J Immunother Cancer 10 (12) (2022)
   PUBMED   36543379
  REMARK    GeneRIF: Modification of PLAC8 by UFM1 affects tumorous
            proliferation and immune response by impacting PD-L1 levels in
            triple-negative breast cancer.
REFERENCE   3  (residues 1 to 71)
  AUTHORS   Millrine D, Cummings T, Matthews SP, Peter JJ, Magnussen HM, Lange
            SM, Macartney T, Lamoliatte F, Knebel A and Kulathu Y.
  TITLE     Human UFSP1 is an active protease that regulates UFM1 maturation
            and UFMylation
  JOURNAL   Cell Rep 40 (5), 111168 (2022)
   PUBMED   35926457
  REMARK    GeneRIF: Human UFSP1 is an active protease that regulates UFM1
            maturation and UFMylation.
REFERENCE   4  (residues 1 to 71)
  AUTHORS   Yoo HM, Park JH, Kim JY and Chung CH.
  TITLE     Modification of ERalpha by UFM1 Increases Its Stability and
            Transactivity for Breast Cancer Development
  JOURNAL   Mol Cells 45 (6), 425-434 (2022)
   PUBMED   35680375
  REMARK    GeneRIF: Modification of ERalpha by UFM1 Increases Its Stability
            and Transactivity for Breast Cancer Development.
REFERENCE   5  (residues 1 to 71)
  AUTHORS   Kumar M, Padala P, Fahoum J, Hassouna F, Tsaban T, Zoltsman G,
            Banerjee S, Cohen-Kfir E, Dessau M, Rosenzweig R, Isupov MN,
            Schueler-Furman O and Wiener R.
  TITLE     Structural basis for UFM1 transfer from UBA5 to UFC1
  JOURNAL   Nat Commun 12 (1), 5708 (2021)
   PUBMED   34588452
  REMARK    GeneRIF: Structural basis for UFM1 transfer from UBA5 to UFC1.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 71)
  AUTHORS   Tatsumi K, Yamamoto-Mukai H, Shimizu R, Waguri S, Sou YS, Sakamoto
            A, Taya C, Shitara H, Hara T, Chung CH, Tanaka K, Yamamoto M and
            Komatsu M.
  TITLE     The Ufm1-activating enzyme Uba5 is indispensable for erythroid
            differentiation in mice
  JOURNAL   Nat Commun 2, 181 (2011)
   PUBMED   21304510
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 71)
  AUTHORS   Behrends C, Sowa ME, Gygi SP and Harper JW.
  TITLE     Network organization of the human autophagy system
  JOURNAL   Nature 466 (7302), 68-76 (2010)
   PUBMED   20562859
REFERENCE   8  (residues 1 to 71)
  AUTHORS   Tatsumi K, Sou YS, Tada N, Nakamura E, Iemura S, Natsume T, Kang
            SH, Chung CH, Kasahara M, Kominami E, Yamamoto M, Tanaka K and
            Komatsu M.
  TITLE     A novel type of E3 ligase for the Ufm1 conjugation system
  JOURNAL   J Biol Chem 285 (8), 5417-5427 (2010)
   PUBMED   20018847
  REMARK    GeneRIF: A novel type of E3 ligase for the Ufm1 conjugation system.
REFERENCE   9  (residues 1 to 71)
  AUTHORS   Sasakawa H, Sakata E, Yamaguchi Y, Komatsu M, Tatsumi K, Kominami
            E, Tanaka K and Kato K.
  TITLE     Solution structure and dynamics of Ufm1, a ubiquitin-fold modifier
            1
  JOURNAL   Biochem Biophys Res Commun 343 (1), 21-26 (2006)
   PUBMED   16527251
  REMARK    GeneRIF: The solution structure and dynamics of human Ufm1 (hsUfm1)
            by nuclear magnetic resonance spectroscopy was analysed.
REFERENCE   10 (residues 1 to 71)
  AUTHORS   Komatsu M, Chiba T, Tatsumi K, Iemura S, Tanida I, Okazaki N, Ueno
            T, Kominami E, Natsume T and Tanaka K.
  TITLE     A novel protein-conjugating system for Ufm1, a ubiquitin-fold
            modifier
  JOURNAL   EMBO J 23 (9), 1977-1986 (2004)
   PUBMED   15071506
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356863.12.
            
            Summary: UFM1 is a ubiquitin-like protein that is conjugated to
            target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM
            610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a
            manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu
            et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008].
            
            Transcript Variant: This variant (4) contains an alternate exon in
            the 3' coding region, which results in a frameshift, compared to
            variant 1. The encoded isoform (4) has a distinct C-terminus and is
            shorter than isoform 1. Variants 4 and 5 encode the same isoform
            (4).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.12188.1,
                                           SRR1660803.119837.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..71
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.3"
     Protein         1..71
                     /product="ubiquitin-fold modifier 1 isoform 4"
                     /calculated_mol_wt=7359
     Region          4..64
                     /region_name="Ubl1_cv_Nsp3_N-like"
                     /note="first ubiquitin-like (Ubl) domain located at the
                     N-terminus of coronavirus SARS-CoV non-structural protein
                     3 (Nsp3) and related proteins; cl28922"
                     /db_xref="CDD:452900"
     CDS             1..71
                     /gene="UFM1"
                     /gene_synonym="BM-002; C13orf20; HLD14"
                     /coded_by="NM_001286705.2:70..285"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:51569"
                     /db_xref="HGNC:HGNC:20597"
                     /db_xref="MIM:610553"
ORIGIN      
        1 mskvsfkitl tsdprlpykv lsvpestpft avlkfaaeef kvpaatsaii tndgiginpa
       61 qtaglaveiq p
//
LOCUS       NP_001135761             554 aa            linear   PRI 11-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase MGRN1 isoform 2 [Homo sapiens].
ACCESSION   NP_001135761
VERSION     NP_001135761.2
DBSOURCE    REFSEQ: accession NM_001142289.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 554)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (residues 1 to 554)
  AUTHORS   Sires-Campos J, Lambertos A, Delevoye C, Raposo G, Bennett DC,
            Sviderskaya E, Jimenez-Cervantes C, Olivares C and Garcia-Borron
            JC.
  TITLE     Mahogunin Ring Finger 1 regulates pigmentation by controlling the
            pH of melanosomes in melanocytes and melanoma cells
  JOURNAL   Cell Mol Life Sci 79 (1), 47 (2021)
   PUBMED   34921635
  REMARK    GeneRIF: Mahogunin Ring Finger 1 regulates pigmentation by
            controlling the pH of melanosomes in melanocytes and melanoma
            cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 554)
  AUTHORS   Abrisqueta M, Olivares C, Herraiz C, Castejon-Grinan M,
            Sires-Campos J, Garcia-Borron JC and Jimenez-Cervantes C.
  TITLE     Human melanocortin 1 receptor-mediated ubiquitination of nonvisual
            arrestins. Role of Mahogunin Ring Finger 1 E3 ligase
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1865 (1), 76-94 (2018)
   PUBMED   28947386
  REMARK    GeneRIF: In a heterologous expression system, MC1R-dependent
            Arrestins B ubiquitination was enhanced by overexpression of MGRN1
            and was impaired by siRNA-mediated MGRN1 knockdown thus pointing to
            MGRN1 as the responsible E3-ligase.
REFERENCE   4  (residues 1 to 554)
  AUTHORS   Mukherjee R, Majumder P and Chakrabarti O.
  TITLE     MGRN1-mediated ubiquitination of alpha-tubulin regulates
            microtubule dynamics and intracellular transport
  JOURNAL   Traffic 18 (12), 791-807 (2017)
   PUBMED   28902452
  REMARK    GeneRIF: epletion of MGRN1 activity may hamper physiologically
            important processes like mitochondrial movement in neuronal
            processes and intracellular transport of ligands through the
            endosomal pathway thereby contributing to the pathogenesis of
            neurodegeneration in certain types of prion diseases
REFERENCE   5  (residues 1 to 554)
  AUTHORS   Benvegnu S, Mateo MI, Palomer E, Jurado-Arjona J and Dotti CG.
  TITLE     Aging Triggers Cytoplasmic Depletion and Nuclear Translocation of
            the E3 Ligase Mahogunin: A Function for Ubiquitin in Neuronal
            Survival
  JOURNAL   Mol Cell 66 (3), 358-372 (2017)
   PUBMED   28475871
  REMARK    GeneRIF: With aging, the neuroprotective e3 ligase MGRN1 relocates
            from the cytosol to the nucleus of neurons, where it associates
            with chromatin and potentiates the cellular response to proteotoxic
            stress. This nuclear shift is due to a proteasome impairment
            dependent increase of a monoubiquitinated form of MGRN1.
REFERENCE   6  (residues 1 to 554)
  AUTHORS   Perez-Oliva AB, Olivares C, Jimenez-Cervantes C and Garcia-Borron
            JC.
  TITLE     Mahogunin ring finger-1 (MGRN1) E3 ubiquitin ligase inhibits
            signaling from melanocortin receptor by competition with Galphas
  JOURNAL   J Biol Chem 284 (46), 31714-31725 (2009)
   PUBMED   19737927
REFERENCE   7  (residues 1 to 554)
  AUTHORS   Fernandez LP, Milne RL, Pita G, Floristan U, Sendagorta E, Feito M,
            Aviles JA, Martin-Gonzalez M, Lazaro P, Benitez J and Ribas G.
  TITLE     Pigmentation-related genes and their implication in malignant
            melanoma susceptibility
  JOURNAL   Exp Dermatol 18 (7), 634-642 (2009)
   PUBMED   19320733
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 554)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   9  (residues 1 to 554)
  AUTHORS   Kim BY, Olzmann JA, Barsh GS, Chin LS and Li L.
  TITLE     Spongiform neurodegeneration-associated E3 ligase Mahogunin
            ubiquitylates TSG101 and regulates endosomal trafficking
  JOURNAL   Mol Biol Cell 18 (4), 1129-1142 (2007)
   PUBMED   17229889
  REMARK    GeneRIF: a role for Mahogunin in a proteasome-independent
            ubiquitylation pathway: TSG101 is a specific Mahogunin substrate
REFERENCE   10 (residues 1 to 554)
  AUTHORS   Phan LK, Lin F, LeDuc CA, Chung WK and Leibel RL.
  TITLE     The mouse mahoganoid coat color mutation disrupts a novel C3HC4
            RING domain protein
  JOURNAL   J Clin Invest 110 (10), 1449-1459 (2002)
   PUBMED   12438443
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA590130.1, AC023830.9 and EF471397.2.
            On Jun 7, 2011 this sequence version replaced NP_001135761.1.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon, compared to variant 1. The resulting isoform (2) has the same
            N- and C-termini but is shorter compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853562.12898.1,
                                           SRR11853558.8695.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..554
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..554
                     /product="E3 ubiquitin-protein ligase MGRN1 isoform 2"
                     /EC_number="2.3.2.27"
                     /note="probable E3 ubiquitin-protein ligase MGRN1; RING
                     finger protein 156; mahogunin RING finger protein 1;
                     mahogunin ring finger 1, E3 ubiquitin protein ligase;
                     RING-type E3 ubiquitin transferase MGRN1"
                     /calculated_mol_wt=60611
     Region          268..325
                     /region_name="mRING-HC-C3HC5_MGRN1"
                     /note="Modified RING finger, HC subclass (C3HC5-type),
                     found in mahogunin RING finger protein 1 (MGRN1) and
                     similar proteins; cd16816"
                     /db_xref="CDD:438465"
     Region          273..>449
                     /region_name="rad18"
                     /note="DNA repair protein rad18; TIGR00599"
                     /db_xref="CDD:273165"
     CDS             1..554
                     /gene="MGRN1"
                     /gene_synonym="RNF156"
                     /coded_by="NM_001142289.3:136..1800"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS59256.1"
                     /db_xref="GeneID:23295"
                     /db_xref="HGNC:HGNC:20254"
                     /db_xref="MIM:607559"
ORIGIN      
        1 mgsilsrria gvedidiqan sayryppksg nyfashffmg gekfdtphpe gylfgenmdl
       61 nflgsrpvqf pyvtpaphep vktlrslvni rkdslrlvry kddadspted gdkprvlysl
      121 eftfdadarv aitiycqase eflngravys pkspslqset vhykrgvsqq fslpsfkidf
      181 sewkddelnf dldrgvfpvv iqavvdegdv vevtghahvl laafekhmdg sfsvkplkqk
      241 qivdrvsyll qeiygienkn nqetkpsdde nsdnsnecvv clsdlrdtli lpcrhlclct
      301 scadtlryqa nncpicrlpf rallqiravr kkpgalspvs fspvlaqsle hdehsnsdsv
      361 ppgyepisll ealnglravs paipsaplye eitysgisdg lsqascplaa idhildssrq
      421 kgrpqskapd stlrspsspi heedeeklse dvdappplgg aelalresss pesfiteevd
      481 essspqqgtr aasienvlqd sspehcgrgp padiylpgrp tsmetahgla ttsptwpplg
      541 gpspdpsaae ltpl
//
LOCUS       NP_059116                781 aa            linear   PRI 12-MAR-2023
DEFINITION  homeobox protein SIX4 [Homo sapiens].
ACCESSION   NP_059116
VERSION     NP_059116.3
DBSOURCE    REFSEQ: accession NM_017420.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 781)
  AUTHORS   Li B, Dang X, Duan J, Zhang G, Zhang J and Song Q.
  TITLE     SIX4 upregulates IDH1 and metabolic reprogramming to promote
            osteosarcoma progression
  JOURNAL   J Cell Mol Med 27 (2), 259-265 (2023)
   PUBMED   36601689
  REMARK    GeneRIF: SIX4 upregulates IDH1 and metabolic reprogramming to
            promote osteosarcoma progression.
REFERENCE   2  (residues 1 to 781)
  AUTHORS   Han J and Hu X.
  TITLE     IGF2BP3-stabilized SIX4 promotes the proliferation, migration,
            invasion and tube formation of ovarian cancer cells
  JOURNAL   Mol Med Rep 26 (1) (2022)
   PUBMED   35616130
  REMARK    GeneRIF: IGF2BP3stabilized SIX4 promotes the proliferation,
            migration, invasion and tube formation of ovarian cancer cells.
REFERENCE   3  (residues 1 to 781)
  AUTHORS   Camolotto SA, Belova VK, Torre-Healy L, Vahrenkamp JM, Berrett KC,
            Conway H, Shea J, Stubben C, Moffitt R, Gertz J and Snyder EL.
  TITLE     Reciprocal regulation of pancreatic ductal adenocarcinoma growth
            and molecular subtype by HNF4alpha and SIX1/4
  JOURNAL   Gut 70 (5), 900-914 (2021)
   PUBMED   32826305
  REMARK    GeneRIF: Reciprocal regulation of pancreatic ductal adenocarcinoma
            growth and molecular subtype by HNF4alpha and SIX1/4.
REFERENCE   4  (residues 1 to 781)
  AUTHORS   Li Y, Jiang X, Yan X and Wang Y.
  TITLE     Upregulation of SIX4 indicates poor clinical outcome and promotes
            tumor growth and cell metastasis in esophageal squamous cell
            carcinoma
  JOURNAL   Thorac Cancer 12 (6), 752-759 (2021)
   PUBMED   33481352
  REMARK    GeneRIF: Upregulation of SIX4 indicates poor clinical outcome and
            promotes tumor growth and cell metastasis in esophageal squamous
            cell carcinoma.
REFERENCE   5  (residues 1 to 781)
  AUTHORS   He Q, Lin Z, Wang Z, Huang W, Tian D, Liu M and Xia L.
  TITLE     SIX4 promotes hepatocellular carcinoma metastasis through
            upregulating YAP1 and c-MET
  JOURNAL   Oncogene 39 (50), 7279-7295 (2020)
   PUBMED   33046796
  REMARK    GeneRIF: SIX4 promotes hepatocellular carcinoma metastasis through
            upregulating YAP1 and c-MET.
REFERENCE   6  (residues 1 to 781)
  AUTHORS   Liu Q, Li A, Tian Y, Liu Y, Li T, Zhang C, Wu JD, Han X and Wu K.
  TITLE     The expression profile and clinic significance of the SIX family in
            non-small cell lung cancer
  JOURNAL   J Hematol Oncol 9 (1), 119 (2016)
   PUBMED   27821176
  REMARK    GeneRIF: SIX4 and SIX6 were linked to the lymph node metastasis in
            NSCLC.
            Review article
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 781)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   8  (residues 1 to 781)
  AUTHORS   Gallardo ME, Lopez-Rios J, Fernaud-Espinosa I, Granadino B, Sanz R,
            Ramos C, Ayuso C, Seller MJ, Brunner HG, Bovolenta P and Rodriguez
            de Cordoba S.
  TITLE     Genomic cloning and characterization of the human homeobox gene
            SIX6 reveals a cluster of SIX genes in chromosome 14 and associates
            SIX6 hemizygosity with bilateral anophthalmia and pituitary
            anomalies
  JOURNAL   Genomics 61 (1), 82-91 (1999)
   PUBMED   10512683
REFERENCE   9  (residues 1 to 781)
  AUTHORS   Ozaki H, Yamada K, Kobayashi M, Asakawa S, Minoshima S, Shimizu N,
            Kajitani M and Kawakami K.
  TITLE     Structure and chromosome mapping of the human SIX4 and murine Six4
            genes
  JOURNAL   Cytogenet Cell Genet 87 (1-2), 108-112 (1999)
   PUBMED   10640827
REFERENCE   10 (residues 1 to 781)
  AUTHORS   Kawakami K, Ohto H, Ikeda K and Roeder RG.
  TITLE     Structure, function and expression of a murine homeobox protein
            AREC3, a homologue of Drosophila sine oculis gene product, and
            implication in development
  JOURNAL   Nucleic Acids Res 24 (2), 303-310 (1996)
   PUBMED   8628654
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL132777.4, BC099722.1 and
            AA424469.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 6, 2007 this sequence version replaced NP_059116.2.
            
            Summary: This gene encodes a member of the homeobox family,
            subfamily SIX. The drosophila homolog is a nuclear homeoprotein
            required for eye development. Studies in mouse show that this gene
            product functions as a transcription factor, and may have a role in
            the differentiation or maturation of neuronal cells. [provided by
            RefSeq, May 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.140483.1, BC098135.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216513.5/ ENSP00000216513.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..781
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.1"
     Protein         1..781
                     /product="homeobox protein SIX4"
                     /note="sine oculis homeobox homolog 4"
                     /calculated_mol_wt=82803
     Region          1..55
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UIU6.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9UIU6.2)"
     Region          108..217
                     /region_name="SIX1_SD"
                     /note="Transcriptional regulator, SIX1, N-terminal SD
                     domain; pfam16878"
                     /db_xref="CDD:435624"
     Region          228..282
                     /region_name="homeodomain"
                     /note="Homeodomain; DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; cd00086"
                     /db_xref="CDD:238039"
     Site            order(229,269,272..273,276)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          270..321
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UIU6.2)"
     Site            640
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (Q9UIU6.2)"
     CDS             1..781
                     /gene="SIX4"
                     /gene_synonym="AREC3"
                     /coded_by="NM_017420.5:278..2623"
                     /db_xref="CCDS:CCDS9749.2"
                     /db_xref="GeneID:51804"
                     /db_xref="HGNC:HGNC:10890"
                     /db_xref="MIM:606342"
ORIGIN      
        1 mssssptgqi asaadikqen gmesasegqe ahrevaggaa vglsppapap fplepgdaat
       61 aaarvsgeeg avaaaaagaa adqvqlhsel lgrhhhaaaa aaqtplafsp dhvacvceal
      121 qqggnldrla rflwslpqsd llrgnesllk aralvafhqg iypelysile shsfesanhp
      181 llqqlwykar yteaerargr plgavdkyrl rrkfplprti wdgeetvycf keksrnalke
      241 lykqnrypsp aekrhlakit glsltqvsnw fknrrqrdrn psetqskses dgnpstedes
      301 skghedlsph plssssdgit nlslsshmep vymqqignak islsssgvll ngslvpasts
      361 pvflngnsfi qgpsgvilng lnvgntqava lnppkmssni vsngismtdi lgstsqdvke
      421 fkvlqssans atttsyspsv pvsfpglips tevkregiqt vasqdggsvv tfttpvqinq
      481 ygivqipnsg ansqflngsi gfsplqlppv svaasqgnis vssstsdgst ftsesttvqq
      541 gkvflsslap savvytvpnt gqtigsvkqe glerslvfsq lmpvnqnaqv nanlssenis
      601 gsglhplass lvnvspthnf slspstllnp telnrdiads qpmsapvask stvtsvsntn
      661 yatlqncsli tgqdllsvpm tqaalgeivp taedqvghps pavhqdfvqe hrlvlqsvan
      721 mkenflsnse skatsslmml dskskyvldg mvdtvcedle tdkkelaklq tvqldedmqd
      781 l
//
LOCUS       NP_001258113            1034 aa            linear   PRI 13-MAR-2023
DEFINITION  trophinin isoform 7 [Homo sapiens].
ACCESSION   NP_001258113
VERSION     NP_001258113.1
DBSOURCE    REFSEQ: accession NM_001271184.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1034)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (residues 1 to 1034)
  AUTHORS   Cai P, Lu Y, Yin Z, Wang X, Zhou X and Li Z.
  TITLE     Trophinin Is an Important Biomarker and Prognostic Factor in
            Osteosarcoma: Data Mining from Oncomine and the Cancer Genome Atlas
            Databases
  JOURNAL   Biomed Res Int 2021, 6885897 (2021)
   PUBMED   34307667
  REMARK    GeneRIF: Trophinin Is an Important Biomarker and Prognostic Factor
            in Osteosarcoma: Data Mining from Oncomine and the Cancer Genome
            Atlas Databases.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1034)
  AUTHORS   Dolanbay EG, Yardimoglu M, Yalcinkaya E, Yazir Y, Aksoy A, Karaoz E
            and Caliskan E.
  TITLE     Expression of trophinin and dipeptidyl peptidase IV in endometrial
            co-culture in the presence of an embryo: A comparative
            immunocytochemical study
  JOURNAL   Mol Med Rep 13 (5), 3961-3968 (2016)
   PUBMED   27035766
  REMARK    GeneRIF: Expression of trophinin and dipeptidyl peptidase IV in
            endometrial co-culture in the presence of an embryo: A comparative
            immunocytochemical study.
REFERENCE   4  (residues 1 to 1034)
  AUTHORS   Fukuda MN and Sugihara K.
  TITLE     Trophinin in cell adhesion and signal transduction
  JOURNAL   Front Biosci (Elite Ed) 4 (1), 342-350 (2012)
   PUBMED   22201876
  REMARK    GeneRIF: report dual roles for trophinin in human cancers in terms
            of promoting malignancy in some tumor types and suppressing it in
            others
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1034)
  AUTHORS   Aoyama J, Akazawa Y, Kasahara K, Higashiyama Y, Kikuchi I, Fukumoto
            Y, Saburi S, Nakayama Y, Fukuda MN and Yamaguchi N.
  TITLE     Nuclear localization of magphinins, alternative splicing products
            of the human trophinin gene
  JOURNAL   J Cell Biochem 103 (3), 765-777 (2008)
   PUBMED   17559068
  REMARK    GeneRIF: Confocal microscopy analysis of ectopically expressed
            magphinins revealed that magphinin-alpha and -beta localize in the
            cytoplasm, whereas magphinin-gamma lacking the peptide encoded by
            exon-3 is nuclear.
            GeneRIF: When magphinin-gamma was expressed in NIH3T3 cells, cells
            underwent G1 arrest. These results suggest that human
            magphinin-gamma inhibits cell cycle progression through nuclear
            activity.
REFERENCE   6  (residues 1 to 1034)
  AUTHORS   Chomez P, De Backer O, Bertrand M, De Plaen E, Boon T and Lucas S.
  TITLE     An overview of the MAGE gene family with the identification of all
            human members of the family
  JOURNAL   Cancer Res 61 (14), 5544-5551 (2001)
   PUBMED   11454705
REFERENCE   7  (residues 1 to 1034)
  AUTHORS   Suzuki N, Nakayama J, Shih IM, Aoki D, Nozawa S and Fukuda MN.
  TITLE     Expression of trophinin, tastin, and bystin by trophoblast and
            endometrial cells in human placenta
  JOURNAL   Biol Reprod 60 (3), 621-627 (1999)
   PUBMED   10026108
REFERENCE   8  (residues 1 to 1034)
  AUTHORS   Suzuki N, Zara J, Sato T, Ong E, Bakhiet N, Oshima RG, Watson KL
            and Fukuda MN.
  TITLE     A cytoplasmic protein, bystin, interacts with trophinin, tastin,
            and cytokeratin and may be involved in trophinin-mediated cell
            adhesion between trophoblast and endometrial epithelial cells
  JOURNAL   Proc Natl Acad Sci U S A 95 (9), 5027-5032 (1998)
   PUBMED   9560222
REFERENCE   9  (residues 1 to 1034)
  AUTHORS   Pack SD, Tanigami A, Ledbetter DH, Sato T and Fukuda MN.
  TITLE     Assignment of trophoblast/endometrial epithelium cell adhesion
            molecule trophinin gene TRO to human chromosome bands
            Xp11.22-->p11.21 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 79 (1-2), 123-124 (1997)
   PUBMED   9533028
REFERENCE   10 (residues 1 to 1034)
  AUTHORS   Fukuda MN, Sato T, Nakayama J, Klier G, Mikami M, Aoki D and Nozawa
            S.
  TITLE     Trophinin and tastin, a novel cell adhesion molecule complex with
            potential involvement in embryo implantation
  JOURNAL   Genes Dev 9 (10), 1199-1210 (1995)
   PUBMED   7758945
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA128814.1, AK225841.1 and
            AF349719.1.
            
            Summary: This gene encodes a membrane protein that mediates cell
            adhesion between trophoblastic cells and the epithelial cells of
            the endometrium. The encoded protein participates in cell
            signalling during embryo implantation, and may also be involved in
            cancer formation. This gene is located near several other closely
            related genes on chromosome X. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Sep 2012].
            
            Transcript Variant: This variant (8) differs in the 5' UTR and
            lacks an alternate exon in the 5' coding region, compared to
            variant 6. The encoded isoform (7) is shorter than isoform 5.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK225841.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2155371
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1034
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.21"
     Protein         1..1034
                     /product="trophinin isoform 7"
                     /note="MAGE superfamily protein; magphinin; MAGE-D3
                     antigen; melanoma antigen, family D, 3"
                     /calculated_mol_wt=102147
     Region          54..214
                     /region_name="MAGE"
                     /note="MAGE family; pfam01454"
                     /db_xref="CDD:426270"
     Region          577..786
                     /region_name="YjbI"
                     /note="Uncharacterized protein YjbI, contains pentapeptide
                     repeats [Function unknown]; COG1357"
                     /db_xref="CDD:224276"
     Region          699..>923
                     /region_name="Nucleoporin_FG2"
                     /note="Nucleoporin FG repeated region; pfam15967"
                     /db_xref="CDD:435043"
     Region          <861..>1007
                     /region_name="PTZ00395"
                     /note="Sec24-related protein; Provisional"
                     /db_xref="CDD:185594"
     CDS             1..1034
                     /gene="TRO"
                     /gene_synonym="MAGE-d3; MAGED3"
                     /coded_by="NM_001271184.2:172..3276"
                     /note="isoform 7 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS59528.1"
                     /db_xref="GeneID:7216"
                     /db_xref="HGNC:HGNC:12326"
                     /db_xref="MIM:300132"
ORIGIN      
        1 mdrrndygyr vplfqskhln gdersgsnyr ripwgrrpap prdvailqer anklvkyllv
       61 kdqtkipikr sdmlrdviqe ydeyfpeiie rasytlekmf rvnlkeidkq sslyilistq
      121 essagilgtt kdtpklgllm vilsvifmng nkaseaviwe vlrklglrpg vrhslfgevr
      181 klitdefvkq kyleykrvpn srppeyeffw glrsyhetsk mkvlkfacrv qkkdpkdwav
      241 qyreavemev qaaavavaea earaearaqm gigeeavagp wnwddmdidc ltreelgdda
      301 qawsrfsfei earaqenada stnvnfsrga stragfsdga sisfngapss sggfsggpgi
      361 tfgvapstsa sfsntasisf ggtlstsssf ssaasisfgc ahststsfss easisfggmp
      421 ctsasfsggv sssfsgplst satfsggass gfggtlstta gfsgvlstst sfgsapttst
      481 vfssalstst gfggilstsv cfggspsssg sfggtlstsi cfggspctst gfggtlstsv
      541 sfggssstsa nfggtlstsi cfdgspstga gfggalntsa sfgsvlntst gfggamstsa
      601 dfggtlstsv cfggspgtsv sfgsalntna gyggavstnt dfggtlstsv cfggspstsa
      661 gfggalntna sfgcavstsa sfsgavstsa cfsgapitnp gfggafstsa gfggalstaa
      721 dfggtpsnsi gfgaapstsv sfggahgtsl cfggapstsl cfgsasntnl cfggppstsa
      781 cfsgatspsf cdgpststgf sfgnglstna gfggglntsa gfggglgtsa gfsgglstss
      841 gfdgglgtsa gfgggpgtst gfggglgtsa gfsgglgtsa gfggglvtsd gfggglgtna
      901 sfgstlgtsa gfsgglstsd gfgsrpnasf drglstiigf gsgsntstgf tgepststgf
      961 ssgpssivgf sggpstgvgf csgpstsgfs ggpstgagfg ggpntgagfg ggpstsagfg
     1021 sgaaslgacg fsyg
//
LOCUS       NP_004883                215 aa            linear   PRI 13-MAR-2023
DEFINITION  vesicle-trafficking protein SEC22b precursor [Homo sapiens].
ACCESSION   NP_004883
VERSION     NP_004883.3
DBSOURCE    REFSEQ: accession NM_004892.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 215)
  AUTHORS   Yamada K, Motohashi S, Oikawa T, Tago N, Koizumi R, Ono M,
            Tachibana T, Yoshida A, Yoshida S, Shimoda M, Oka M, Yoneda Y and
            Yoshida K.
  TITLE     Extended-synaptotagmin 1 engages in unconventional protein
            secretion mediated via SEC22B+ vesicle pathway in liver cancer
  JOURNAL   Proc Natl Acad Sci U S A 119 (36), e2202730119 (2022)
   PUBMED   36044553
  REMARK    GeneRIF: Extended-synaptotagmin 1 engages in unconventional protein
            secretion mediated via SEC22B(+) vesicle pathway in liver cancer.
REFERENCE   2  (residues 1 to 215)
  AUTHORS   Lo RW, Li L, Pluthero FG, Leung R, Eto K and Kahr WHA.
  TITLE     The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and
            is required for megakaryocyte alpha-granule biogenesis
  JOURNAL   Blood 136 (6), 715-725 (2020)
   PUBMED   32384141
  REMARK    GeneRIF: The endoplasmic reticulum protein SEC22B interacts with
            NBEAL2 and is required for megakaryocyte alpha-granule biogenesis.
REFERENCE   3  (residues 1 to 215)
  AUTHORS   Sun W, Tian BX, Wang SH, Liu PJ and Wang YC.
  TITLE     The function of SEC22B and its role in human diseases
  JOURNAL   Cytoskeleton (Hoboken) 77 (8), 303-312 (2020)
   PUBMED   32748571
  REMARK    GeneRIF: The function of SEC22B and its role in human diseases.
            Review article
REFERENCE   4  (residues 1 to 215)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 215)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (residues 1 to 215)
  AUTHORS   Xu D, Joglekar AP, Williams AL and Hay JC.
  TITLE     Subunit structure of a mammalian ER/Golgi SNARE complex
  JOURNAL   J Biol Chem 275 (50), 39631-39639 (2000)
   PUBMED   11035026
REFERENCE   7  (residues 1 to 215)
  AUTHORS   Parlati F, McNew JA, Fukuda R, Miller R, Sollner TH and Rothman JE.
  TITLE     Topological restriction of SNARE-dependent membrane fusion
  JOURNAL   Nature 407 (6801), 194-198 (2000)
   PUBMED   11001058
REFERENCE   8  (residues 1 to 215)
  AUTHORS   Zhang T, Wong SH, Tang BL, Xu Y and Hong W.
  TITLE     Morphological and functional association of Sec22b/ERS-24 with the
            pre-Golgi intermediate compartment
  JOURNAL   Mol Biol Cell 10 (2), 435-453 (1999)
   PUBMED   9950687
REFERENCE   9  (residues 1 to 215)
  AUTHORS   Paek I, Orci L, Ravazzola M, Erdjument-Bromage H, Amherdt M, Tempst
            P, Sollner TH and Rothman JE.
  TITLE     ERS-24, a mammalian v-SNARE implicated in vesicle traffic between
            the ER and the Golgi
  JOURNAL   J Cell Biol 137 (5), 1017-1028 (1997)
   PUBMED   9166403
REFERENCE   10 (residues 1 to 215)
  AUTHORS   Hay JC, Chao DS, Kuo CS and Scheller RH.
  TITLE     Protein interactions regulating vesicle transport between the
            endoplasmic reticulum and Golgi apparatus in mammalian cells
  JOURNAL   Cell 89 (1), 149-158 (1997)
   PUBMED   9094723
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD619408.1, AK289875.1,
            AA135767.1, BU741516.1, AI085383.1 and AC245008.1.
            On Mar 21, 2012 this sequence version replaced NP_004883.2.
            
            Summary: The protein encoded by this gene is a member of the SEC22
            family of vesicle trafficking proteins. It seems to complex with
            SNARE and it is thought to play a role in the ER-Golgi protein
            trafficking. This protein has strong similarity to Mus musculus and
            Cricetulus griseus proteins.[provided by RefSeq, Sep 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.2942478.1,
                                           SRR18074969.856995.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000578049.4/ ENSP00000463393.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..215
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p12"
     Protein         1..215
                     /product="vesicle-trafficking protein SEC22b precursor"
                     /note="vesicle-trafficking protein SEC22b; ER-Golgi SNARE
                     of 24 kDa; SEC22 vesicle trafficking protein-like 1; SEC22
                     vesicle trafficking protein homolog B"
                     /calculated_mol_wt=23369
     sig_peptide     1..13
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1390
     Region          3..126
                     /region_name="Longin"
                     /note="longin domain; cd14824"
                     /db_xref="CDD:341428"
     Site            order(3,33,36,56,59,61)
                     /site_type="lipid-binding"
                     /note="lipid binding site [chemical binding]"
                     /db_xref="CDD:341428"
     Site            order(15,18,20,34,38,117,121,124)
                     /site_type="other"
                     /note="Sec22 interface [polypeptide binding]"
                     /db_xref="CDD:341428"
     Site            38
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O75396.5)"
     Site            order(55,58,78,82)
                     /site_type="other"
                     /note="VARP interface [polypeptide binding]"
                     /db_xref="CDD:341428"
     Region          132..195
                     /region_name="R-SNARE_SEC22"
                     /note="SNARE motif of SEC22; cd15866"
                     /db_xref="CDD:277219"
     Site            order(134..136,138..139,141..146,148..150,152,155..156,
                     158..160,162..167,169..174,176..181,183..188,190..192)
                     /site_type="other"
                     /note="heterotetramer interface [polypeptide binding]"
                     /db_xref="CDD:277219"
     Site            137
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75396.5)"
     Site            140
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O75396.5)"
     Site            159
                     /site_type="other"
                     /note="zero layer"
                     /db_xref="CDD:277219"
     Site            164
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75396.5)"
     Site            168
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75396.5)"
     Site            174
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75396.5)"
     Site            177
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75396.5)"
     Site            195..215
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75396.5)"
     CDS             1..215
                     /gene="SEC22B"
                     /gene_synonym="ERS-24; SEC22L1"
                     /coded_by="NM_004892.6:140..787"
                     /db_xref="CCDS:CCDS83523.1"
                     /db_xref="GeneID:9554"
                     /db_xref="HGNC:HGNC:10700"
                     /db_xref="MIM:604029"
ORIGIN      
        1 mvlltmiarv adglplaasm qedeqsgrdl qqyqsqakql frklneqspt rctleagamt
       61 fhyiieqgvc ylvlceaafp kklafayled lhsefdeqhg kkvptvsrpy sfiefdtfiq
      121 ktkklyidsr arrnlgsint elqdvqrimv anieevlqrg ealsaldska nnlsslskky
      181 rqdakylnmr styaklaava vffimlivyv rfwwl
//
LOCUS       NP_009140                123 aa            linear   PRI 14-MAR-2023
DEFINITION  60S ribosomal protein L35 [Homo sapiens].
ACCESSION   NP_009140
VERSION     NP_009140.1
DBSOURCE    REFSEQ: accession NM_007209.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 123)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before
            and after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 123)
  AUTHORS   Liu PY, Tee AE, Milazzo G, Hannan KM, Maag J, Mondal S, Atmadibrata
            B, Bartonicek N, Peng H, Ho N, Mayoh C, Ciaccio R, Sun Y, Henderson
            MJ, Gao J, Everaert C, Hulme AJ, Wong M, Lan Q, Cheung BB, Shi L,
            Wang JY, Simon T, Fischer M, Zhang XD, Marshall GM, Norris MD,
            Haber M, Vandesompele J, Li J, Mestdagh P, Hannan RD, Dinger ME,
            Perini G and Liu T.
  TITLE     The long noncoding RNA lncNB1 promotes tumorigenesis by interacting
            with ribosomal protein RPL35
  JOURNAL   Nat Commun 10 (1), 5026 (2019)
   PUBMED   31690716
  REMARK    GeneRIF: This study therefore identifies lncNB1 and its binding
            protein RPL35 as key factors for promoting E2F1 protein synthesis,
            N-Myc protein stability and N-Myc-driven oncogenesis, and as
            therapeutic targets.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 123)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   4  (residues 1 to 123)
  AUTHORS   Anger AM, Armache JP, Berninghausen O, Habeck M, Subklewe M, Wilson
            DN and Beckmann R.
  TITLE     Structures of the human and Drosophila 80S ribosome
  JOURNAL   Nature 497 (7447), 80-85 (2013)
   PUBMED   23636399
REFERENCE   5  (residues 1 to 123)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   6  (residues 1 to 123)
  AUTHORS   Mazumder B, Sampath P, Seshadri V, Maitra RK, DiCorleto PE and Fox
            PL.
  TITLE     Regulated release of L13a from the 60S ribosomal subunit as a
            mechanism of transcript-specific translational control
  JOURNAL   Cell 115 (2), 187-198 (2003)
   PUBMED   14567916
REFERENCE   7  (residues 1 to 123)
  AUTHORS   Odintsova TI, Muller EC, Ivanov AV, Egorov TA, Bienert R,
            Vladimirov SN, Kostka S, Otto A, Wittmann-Liebold B and Karpova GG.
  TITLE     Characterization and analysis of posttranslational modifications of
            the human large cytoplasmic ribosomal subunit proteins by mass
            spectrometry and Edman sequencing
  JOURNAL   J Protein Chem 22 (3), 249-258 (2003)
   PUBMED   12962325
REFERENCE   8  (residues 1 to 123)
  AUTHORS   Uechi T, Tanaka T and Kenmochi N.
  TITLE     A complete map of the human ribosomal protein genes: assignment of
            80 genes to the cytogenetic map and implications for human
            disorders
  JOURNAL   Genomics 72 (3), 223-230 (2001)
   PUBMED   11401437
REFERENCE   9  (residues 1 to 123)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   10 (residues 1 to 123)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301769
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BM854016.1, U12465.1 and CR996819.1.
            
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L29P family of ribosomal proteins. It is located in the
            cytoplasm. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AV759294.1, BM740758.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000348462.6/ ENSP00000259469.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..123
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3"
     Protein         1..123
                     /product="60S ribosomal protein L35"
                     /note="large ribosomal subunit protein uL29"
                     /calculated_mol_wt=14420
     Region          8..63
                     /region_name="Ribosomal_L29"
                     /note="Ribosomal L29 protein; pfam00831"
                     /db_xref="CDD:425893"
     Site            order(8..9,11,15..16,18..19,22..23,26..27,30,33..34,43,46,
                     50,53..54,57..58,61)
                     /site_type="active"
                     /note="putative translocon interaction site [active]"
                     /db_xref="CDD:238243"
     Site            order(10,45,55..56,58..59,63)
                     /site_type="other"
                     /note="23S rRNA interface [nucleotide binding]"
                     /db_xref="CDD:238243"
     Site            19
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P42766.2)"
     Site            order(23,27,30,34,50)
                     /site_type="active"
                     /note="signal recognition particle (SRP54) interaction
                     site [active]"
                     /db_xref="CDD:238243"
     Site            order(29,32..33)
                     /site_type="other"
                     /note="L23 interface [polypeptide binding]"
                     /db_xref="CDD:238243"
     Site            29
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42766.2)"
     Site            36..37
                     /site_type="active"
                     /note="trigger factor interaction site [active]"
                     /db_xref="CDD:238243"
     Site            43
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P42766.2)"
     Region          85..123
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P42766.2)"
     CDS             1..123
                     /gene="RPL35"
                     /gene_synonym="DBA19; L35; uL29"
                     /coded_by="NM_007209.4:46..417"
                     /db_xref="CCDS:CCDS6858.1"
                     /db_xref="GeneID:11224"
                     /db_xref="HGNC:HGNC:10344"
                     /db_xref="MIM:618315"
ORIGIN      
        1 makikardlr gkkkeellkq lddlkvelsq lrvakvtgga asklskirvv rksiarvltv
       61 inqtqkenlr kfykgkkykp ldlrpkktra mrrrlnkhee nlktkkqqrk erlyplrkya
      121 vka
//
LOCUS       NP_001317469             225 aa            linear   PRI 15-MAR-2023
DEFINITION  cyanocobalamin reductase / alkylcobalamin dealkylase isoform 2
            [Homo sapiens].
ACCESSION   NP_001317469 XP_011539506
VERSION     NP_001317469.1
DBSOURCE    REFSEQ: accession NM_001330540.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 225)
  AUTHORS   He R, Mo R, Zhang Y, Shen M, Kang L, Chen Z, Liu Y, Song J, Zhang
            H, Yao H, Liu Y, Dong H, Jin Y, Li M, Qin J, Zheng H, Chen Y, Wei
            H, Li D, Li X, Zheng R, Zhang H, Huang M, Zhang C, Jiang Y, Liang
            D, Tian Y and Yang Y.
  TITLE     [Factors affecting phenotypes in the patients with MMACHC gene
            c.609G>A homozygous variant cblC type methylmalonic acidemia
            combined with homocysteinuria]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 39 (6), 565-570 (2022)
   PUBMED   35773756
  REMARK    GeneRIF: [Factors affecting phenotypes in the patients with MMACHC
            gene c.609G>A homozygous variant cblC type methylmalonic acidemia
            combined with homocysteinuria].
REFERENCE   2  (residues 1 to 225)
  AUTHORS   Passantino R, Mangione MR, Ortore MG, Costa MA, Provenzano A,
            Amenitsch H, Sabbatella R, Alfano C, Martorana V and Vilasi S.
  TITLE     Investigation on a MMACHC mutant from cblC disease: The c.394C>T
            variant
  JOURNAL   Biochim Biophys Acta Proteins Proteom 1870 (6), 140793 (2022)
   PUBMED   35618206
  REMARK    GeneRIF: Investigation on a MMACHC mutant from cblC disease: The
            c.394C>T variant.
REFERENCE   3  (residues 1 to 225)
  AUTHORS   Oussalah A, Siblini Y, Hergalant S, Chery C, Rouyer P, Cavicchi C,
            Guerrini R, Morange PE, Tregouet D, Pupavac M, Watkins D, Pastinen
            T, Chung WK, Ficicioglu C, Feillet F, Froese DS, Baumgartner MR,
            Benoist JF, Majewski J, Morrone A, Rosenblatt DS and Gueant JL.
  TITLE     Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC
            inherited disorder of intracellular metabolism of vitamin B12
  JOURNAL   Clin Epigenetics 14 (1), 52 (2022)
   PUBMED   35440018
  REMARK    GeneRIF: Epimutations in both the TESK2 and MMACHC promoters in the
            Epi-cblC inherited disorder of intracellular metabolism of vitamin
            B12.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 225)
  AUTHORS   Hannibal L and Jacobsen DW.
  TITLE     Intracellular processing of vitamin B12 by MMACHC (CblC)
  JOURNAL   Vitam Horm 119, 275-298 (2022)
   PUBMED   35337623
  REMARK    GeneRIF: Intracellular processing of vitamin B12 by MMACHC (CblC).
            Review article
REFERENCE   5  (residues 1 to 225)
  AUTHORS   Yu Y, Ling S, Shuai R, Qiu W, Zhang H, Liang L, Ji W, Liu Y, Gu X
            and Han L.
  TITLE     Clinical features and outcomes of patients with cblC type
            methylmalonic acidemia carrying gene c.609G>A mutation
  JOURNAL   Zhejiang Da Xue Xue Bao Yi Xue Ban 50 (4), 436-443 (2021)
   PUBMED   34704411
  REMARK    GeneRIF: Clinical features and outcomes of patients with cblC type
            methylmalonic acidemia carrying gene c.609G>A mutation.
REFERENCE   6  (residues 1 to 225)
  AUTHORS   Thauvin-Robinet C, Roze E, Couvreur G, Horellou MH, Sedel F, Grabli
            D, Bruneteau G, Tonneti C, Masurel-Paulet A, Perennou D, Moreau T,
            Giroud M, de Baulny HO, Giraudier S and Faivre L.
  TITLE     The adolescent and adult form of cobalamin C disease: clinical and
            molecular spectrum
  JOURNAL   J Neurol Neurosurg Psychiatry 79 (6), 725-728 (2008)
   PUBMED   18245139
  REMARK    GeneRIF: Most patients (eight of nine patients investigated) were
            compound heterozygotes for the 271dupA mutation and a missense
            mutation.
REFERENCE   7  (residues 1 to 225)
  AUTHORS   Nogueira C, Aiello C, Cerone R, Martins E, Caruso U, Moroni I,
            Rizzo C, Diogo L, Leao E, Kok F, Deodato F, Schiaffino MC, Boenzi
            S, Danhaive O, Barbot C, Sequeira S, Locatelli M, Santorelli FM,
            Uziel G, Vilarinho L and Dionisi-Vici C.
  TITLE     Spectrum of MMACHC mutations in Italian and Portuguese patients
            with combined methylmalonic aciduria and homocystinuria, cblC type
  JOURNAL   Mol Genet Metab 93 (4), 475-480 (2008)
   PUBMED   18164228
  REMARK    GeneRIF: c.271dupA (accounting for 55% of the MMACH alleles in our
            cohort) followed by c.394C>T (16%) and c.331C>T (9%) were the most
            frequent mutations.
REFERENCE   8  (residues 1 to 225)
  AUTHORS   Ben-Omran TI, Wong H, Blaser S and Feigenbaum A.
  TITLE     Late-onset cobalamin-C disorder: a challenging diagnosis
  JOURNAL   Am J Med Genet A 143A (9), 979-984 (2007)
   PUBMED   17431913
  REMARK    GeneRIF: Mutation analysis of the MMACHC gene showed that both
            patients were homozygous for 394C --> T which suggests a founder
            effect in Late onset cobalamin C disorder.
REFERENCE   9  (residues 1 to 225)
  AUTHORS   Lerner-Ellis JP, Tirone JC, Pawelek PD, Dore C, Atkinson JL,
            Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV,
            Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA,
            Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K and
            Rosenblatt DS.
  TITLE     Identification of the gene responsible for methylmalonic aciduria
            and homocystinuria, cblC type
  JOURNAL   Nat Genet 38 (1), 93-100 (2006)
   PUBMED   16311595
  REMARK    GeneRIF: One mutation, 271dupA, in MMACHC accounted for 40% of all
            disease alleles.
            Erratum:[Nat Genet. 2006 Aug;38(8):957]
REFERENCE   10 (residues 1 to 225)
  AUTHORS   Sloan,J.L., Carrillo,N., Adams,D. and Venditti,C.P.
  TITLE     Disorders of Intracellular Cobalamin Metabolism
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301503
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL451136.11.
            On Aug 29, 2016 this sequence version replaced XP_011539506.1.
            
            Summary: The exact function of the protein encoded by this gene is
            not known, however, its C-terminal region shows similarity to TonB,
            a bacterial protein involved in energy transduction for cobalamin
            (vitamin B12) uptake. Hence, it is postulated that this protein may
            have a role in the binding and intracellular trafficking of
            cobalamin. Mutations in this gene are associated with methylmalonic
            aciduria and homocystinuria type cblC. [provided by RefSeq, Oct
            2009].
            
            Transcript Variant: This variant (2) uses an alternate splice
            junction compared to variant 1. The resulting isoform (2) is
            shorter at the N-terminus compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.163993.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..225
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     Protein         1..225
                     /product="cyanocobalamin reductase / alkylcobalamin
                     dealkylase isoform 2"
                     /EC_number="1.16.1.6"
                     /EC_number="2.5.1.151"
                     /note="methylmalonic aciduria and homocystinuria type C
                     protein; cyanocobalamin reductase (cyanide-eliminating);
                     methylmalonic aciduria (cobalamin deficiency) cblC type,
                     with homocystinuria; alkylcobalamin:glutathione
                     S-alkyltransferase; cyanocobalamin reductase /
                     alkylcobalamin dealkylase"
                     /calculated_mol_wt=25200
     Region          1..177
                     /region_name="MMACHC"
                     /note="Methylmalonic aciduria and homocystinuria type C
                     family; pfam16690"
                     /db_xref="CDD:435518"
     Site            order(16..19,43..45,48,50..51,54,57)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:214022"
     Site            order(47,56,58..62,65,72,74,89,91..92,101..103,139,143,
                     148..149)
                     /site_type="other"
                     /note="cobalamin binding site [chemical binding]"
                     /db_xref="CDD:214022"
     CDS             1..225
                     /gene="MMACHC"
                     /gene_synonym="cblC"
                     /coded_by="NM_001330540.2:256..933"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS81315.1"
                     /db_xref="GeneID:25974"
                     /db_xref="HGNC:HGNC:24525"
                     /db_xref="MIM:609831"
ORIGIN      
        1 mfdralkpfl qschlrmltd pvdqcvayhl grvreslpel qieiiadyev hpnrrpkila
       61 qtaahvagaa yyyqrqdvea dpwgnqrisg vcihprfggw fairgvvllp gievpdlppr
      121 kphdcvptra driallegfn fhwrdwtyrd avtpqeryse eqkayfstpp aqrlallgla
      181 qpsekpssps pdlpfttpap kkpgnpsrar swlsprvspp aspgp
//
LOCUS       NP_001337461             967 aa            linear   PRI 19-MAR-2023
DEFINITION  sorting nexin-14 isoform e [Homo sapiens].
ACCESSION   NP_001337461
VERSION     NP_001337461.1
DBSOURCE    REFSEQ: accession NM_001350532.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 967)
  AUTHORS   Datta S, Liu Y, Hariri H, Bowerman J and Henne WM.
  TITLE     Cerebellar ataxia disease-associated Snx14 promotes lipid droplet
            growth at ER-droplet contacts
  JOURNAL   J Cell Biol 218 (4), 1335-1351 (2019)
   PUBMED   30765438
  REMARK    GeneRIF: Snx14, an endoplasmic reticulum-resident protein
            associated with the cerebellar ataxia SCAR20, localizes to ER-LD
            contacts following fatty acid treatment, where it promotes lipid
            droplet maturation.
REFERENCE   2  (residues 1 to 967)
  AUTHORS   Bryant D, Liu Y, Datta S, Hariri H, Seda M, Anderson G, Peskett E,
            Demetriou C, Sousa S, Jenkins D, Clayton P, Bitner-Glindzicz M,
            Moore GE, Henne WM and Stanier P.
  TITLE     SNX14 mutations affect endoplasmic reticulum-associated neutral
            lipid metabolism in autosomal recessive spinocerebellar ataxia 20
  JOURNAL   Hum Mol Genet 27 (11), 1927-1940 (2018)
   PUBMED   29635513
  REMARK    GeneRIF: We therefore identify an important role for SNX14 in
            neutral lipid homeostasis between the endoplasmic reticulum ,
            lysosomes and lipid droplets that may provide an early intervention
            target to alleviate the clinical symptoms of autosomal recessive
            cerebellar ataxia 20 (SCAR20).
REFERENCE   3  (residues 1 to 967)
  AUTHORS   Shukla A, Upadhyai P, Shah J, Neethukrishna K, Bielas S and Girisha
            KM.
  TITLE     Autosomal recessive spinocerebellar ataxia 20: Report of a new
            patient and review of literature
  JOURNAL   Eur J Med Genet 60 (2), 118-123 (2017)
   PUBMED   27913285
  REMARK    GeneRIF: Here we report on a child with a novel missense mutation
            in the SNX14 gene that appears to be debilitating for protein
            conformation, function and review the previously reported cases
            from 15 families
REFERENCE   4  (residues 1 to 967)
  AUTHORS   Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO,
            Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL,
            Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman
            MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagiroglu MS,
            Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S,
            Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L,
            Temtamy S, Muller U, Desguerre I, Casanova JL, Dursun A, Gunel M,
            Gabriel SB, de Lonlay P and Gleeson JG.
  TITLE     Biallelic mutations in SNX14 cause a syndromic form of cerebellar
            atrophy and lysosome-autophagosome dysfunction
  JOURNAL   Nat Genet 47 (5), 528-534 (2015)
   PUBMED   25848753
  REMARK    GeneRIF: A unique ataxia syndrome due to biallelic SNX14 mutations
            leading to lysosome-autophagosome dysfunction.
REFERENCE   5  (residues 1 to 967)
  AUTHORS   Thomas AC, Williams H, Seto-Salvia N, Bacchelli C, Jenkins D,
            O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C,
            Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ,
            Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P,
            Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H,
            Hurst J, Scott R, Bitner-Glindzicz M, Moore GE, Sousa SB and
            Stanier P.
  TITLE     Mutations in SNX14 cause a distinctive autosomal-recessive
            cerebellar ataxia and intellectual disability syndrome
  JOURNAL   Am J Hum Genet 95 (5), 611-621 (2014)
   PUBMED   25439728
  REMARK    GeneRIF: Mutations in SNX14 cause a distinctive autosomal-recessive
            cerebellar ataxia and intellectual disability syndrome.
            Erratum:[Am J Hum Genet. 2015 Jun 4;96(6):1008-9]
REFERENCE   6  (residues 1 to 967)
  AUTHORS   Worby CA and Dixon JE.
  TITLE     Sorting out the cellular functions of sorting nexins
  JOURNAL   Nat Rev Mol Cell Biol 3 (12), 919-931 (2002)
   PUBMED   12461558
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol. 2003 Feb;4(2):156.]
REFERENCE   7  (residues 1 to 967)
  AUTHORS   Xu Y, Seet LF, Hanson B and Hong W.
  TITLE     The Phox homology (PX) domain, a new player in phosphoinositide
            signalling
  JOURNAL   Biochem J 360 (Pt 3), 513-530 (2001)
   PUBMED   11736640
  REMARK    Review article
REFERENCE   8  (residues 1 to 967)
  AUTHORS   Teasdale RD, Loci D, Houghton F, Karlsson L and Gleeson PA.
  TITLE     A large family of endosome-localized proteins related to sorting
            nexin 1
  JOURNAL   Biochem J 358 (Pt 1), 7-16 (2001)
   PUBMED   11485546
REFERENCE   9  (residues 1 to 967)
  AUTHORS   Carroll P, Renoncourt Y, Gayet O, De Bovis B and Alonso S.
  TITLE     Sorting nexin-14, a gene expressed in motoneurons trapped by an in
            vitro preselection method
  JOURNAL   Dev Dyn 221 (4), 431-442 (2001)
   PUBMED   11500980
REFERENCE   10 (residues 1 to 967)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136082.22 and AL589666.5.
            
            Summary: This gene encodes a member of the sorting nexin family.
            Members of this family have a phox (PX) phosphoinositide binding
            domain and are involved in intracellular trafficking. The encoded
            protein also contains a regulator of G protein signaling (RGS)
            domain. Regulator of G protein signaling family members are
            regulatory molecules that act as GTPase activating proteins for G
            alpha subunits of heterotrimeric G proteins. Alternate splicing
            results in transcript variants encoding distinct isoforms.
            [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (5) encodes the longest isoform
            (e).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1857067.1,
                                           SRR14038196.953003.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..967
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.3"
     Protein         1..967
                     /product="sorting nexin-14 isoform e"
                     /calculated_mol_wt=112674
     Region          151..320
                     /region_name="PXA"
                     /note="PXA domain; pfam02194"
                     /db_xref="CDD:426650"
     Region          361..487
                     /region_name="RGS_SNX14"
                     /note="Regulator of G protein signaling (RGS) domain found
                     in the Sorting Nexin14 (SNX14) protein; cd08722"
                     /db_xref="CDD:188677"
     Region          585..707
                     /region_name="PX_SNX14"
                     /note="The phosphoinositide binding Phox Homology domain
                     of Sorting Nexin 14; cd06877"
                     /db_xref="CDD:132787"
     Site            order(637..639,663..664,677)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:132787"
     Region          828..932
                     /region_name="Nexin_C"
                     /note="Sorting nexin C terminal; pfam08628"
                     /db_xref="CDD:430115"
     CDS             1..967
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /coded_by="NM_001350532.2:141..3044"
                     /note="isoform e is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS93964.1"
                     /db_xref="GeneID:57231"
                     /db_xref="HGNC:HGNC:14977"
                     /db_xref="MIM:616105"
ORIGIN      
        1 mvpwvrtmgq klkqrlrldv greicrqypl fcflllclsa aslllnrlte vppwwcwiks
       61 grilwitryi hilmifwsfv agvvtfycsl gpdsllpnif ftikykpkql glqelfpqgh
      121 scavcgkvkc krhrpsllle nyqpwldlki sskvdaslse vlelvlenfv ypwyrdvtdd
      181 esfvdelrit lrffasvlir rihkvdipsi itkkllkaam khievivkar qkvknteflq
      241 qaaleeygpe lhvalrsrrd elhylrklte llfpyilppk atdcrsltll ireilsgsvf
      301 lpsldfladp dtvnhlliif iddsppekat epasplvpfl qkfaeprnkk psvlklelkq
      361 ireqqdllfr fmnflkqega vhvlqfcltv eefndrilrp elsndemlsl heelqkiykt
      421 ycldesidki rfdpfiveei qriaegpyid vvklqtmrcl feayehvlsl lenvftpmfc
      481 hsdeyfrqll rgaesptrns klnrgslsld dfrntqkrge sfgisrigsk ikgvfksttm
      541 egamlpnygv aegeddfiee givvmeddsp veavstpntp rnlaawkisi pyvdffedps
      601 serkekkeri pvfcidvern drravghepe hwsvyrryle fyvlesklte fhgafpdaql
      661 pskriigpkn yeflkskree fqeylqkllq hpelsnsqll adflspngge tqfldkilpd
      721 vnlgkiiksv pgklmkekgq hlepfimnfi nscespkpkp srpeltilsp tsennkklfn
      781 dlfknnanra enterkqnqn yfmevmtveg vydylmyvgr vvfqvpdwlh hllmgtrilf
      841 kntlemytdy ylqckleqlf qehrlvslit llrdaifcen teprslqdkq kgakqtfeem
      901 mnyipdllvk cigeetkyes irllfdglqq pvlnkqltyv lldiviqelf pelnkvqkev
      961 tsvtswm
//
LOCUS       NP_001171517             662 aa            linear   PRI 19-MAR-2023
DEFINITION  interferon-induced GTP-binding protein Mx1 isoform a [Homo
            sapiens].
ACCESSION   NP_001171517
VERSION     NP_001171517.1
DBSOURCE    REFSEQ: accession NM_001178046.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 662)
  AUTHORS   He M, Liu M, Geng J, Liu L, Huang P, Yue M, Xia X and Zhang AM.
  TITLE     Polymorphisms of the MxA and MxB genes are associated with
            biochemical indices and viral subtypes in Yunnan HCV patients
  JOURNAL   Front Cell Infect Microbiol 13, 1119805 (2023)
   PUBMED   36743306
  REMARK    GeneRIF: Polymorphisms of the MxA and MxB genes are associated with
            biochemical indices and viral subtypes in Yunnan HCV patients.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 662)
  AUTHORS   McKellar J, Arnaud-Arnould M, Chaloin L, Tauziet M, Arpin-Andre C,
            Pourcelot O, Blaise M, Moncorge O and Goujon C.
  TITLE     An evolutionarily conserved N-terminal leucine is essential for MX1
            GTPase antiviral activity against different families of RNA viruses
  JOURNAL   J Biol Chem 299 (1), 102747 (2023)
   PUBMED   36436557
  REMARK    GeneRIF: An evolutionarily conserved N-terminal leucine is
            essential for MX1 GTPase antiviral activity against different
            families of RNA viruses.
REFERENCE   3  (residues 1 to 662)
  AUTHORS   Noguchi S, Hijikata M, Hamano E, Matsushita I, Ito H, Ohashi J,
            Nagase T and Keicho N.
  TITLE     MxA transcripts with distinct first exons and modulation of gene
            expression levels by single-nucleotide polymorphisms in human
            bronchial epithelial cells
  JOURNAL   Immunogenetics 65 (2), 107-114 (2013)
   PUBMED   23160781
  REMARK    GeneRIF: Our results suggest that MxA observed in respiratory viral
            infections is possibly dominated by the MxA transcript and partly
            influenced by relevant 5' SNPs.
REFERENCE   4  (residues 1 to 662)
  AUTHORS   Ku CC, Che XB, Reichelt M, Rajamani J, Schaap-Nutt A, Huang KJ,
            Sommer MH, Chen YS, Chen YY and Arvin AM.
  TITLE     Herpes simplex virus-1 induces expression of a novel MxA isoform
            that enhances viral replication
  JOURNAL   Immunol Cell Biol 89 (2), 173-182 (2011)
   PUBMED   20603636
  REMARK    GeneRIF: human MxA gene encodes two MxA isoforms, which are
            expressed differentially depending on whether the stimulus is
            IFN-alpha or HSV-1.
REFERENCE   5  (residues 1 to 662)
  AUTHORS   Haller O and Kochs G.
  TITLE     Human MxA protein: an interferon-induced dynamin-like GTPase with
            broad antiviral activity
  JOURNAL   J Interferon Cytokine Res 31 (1), 79-87 (2011)
   PUBMED   21166595
  REMARK    GeneRIF: The structural and functional data suggest that MxA
            targets the nucleoprotein of MxA-sensitive viruses. [Review]
            Review article
REFERENCE   6  (residues 1 to 662)
  AUTHORS   Tazi-Ahnini R, di Giovine FS, McDonagh AJ, Messenger AG, Amadou C,
            Cox A, Duff GW and Cork MJ.
  TITLE     Structure and polymorphism of the human gene for the
            interferon-induced p78 protein (MX1): evidence of association with
            alopecia areata in the Down syndrome region
  JOURNAL   Hum Genet 106 (6), 639-645 (2000)
   PUBMED   10942113
REFERENCE   7  (residues 1 to 662)
  AUTHORS   Pavlovic J, Haller O and Staeheli P.
  TITLE     Human and mouse Mx proteins inhibit different steps of the
            influenza virus multiplication cycle
  JOURNAL   J Virol 66 (4), 2564-2569 (1992)
   PUBMED   1548781
REFERENCE   8  (residues 1 to 662)
  AUTHORS   Horisberger MA, McMaster GK, Zeller H, Wathelet MG, Dellis J and
            Content J.
  TITLE     Cloning and sequence analyses of cDNAs for interferon- and
            virus-induced human Mx proteins reveal that they contain putative
            guanine nucleotide-binding sites: functional study of the
            corresponding gene promoter
  JOURNAL   J Virol 64 (3), 1171-1181 (1990)
   PUBMED   2154602
REFERENCE   9  (residues 1 to 662)
  AUTHORS   Aebi M, Fah J, Hurt N, Samuel CE, Thomis D, Bazzigher L, Pavlovic
            J, Haller O and Staeheli P.
  TITLE     cDNA structures and regulation of two interferon-induced human Mx
            proteins
  JOURNAL   Mol Cell Biol 9 (11), 5062-5072 (1989)
   PUBMED   2481229
REFERENCE   10 (residues 1 to 662)
  AUTHORS   Horisberger MA, Wathelet M, Szpirer J, Szpirer C, Islam Q, Levan G,
            Huez G and Content J.
  TITLE     cDNA cloning and assignment to chromosome 21 of IFI-78K gene, the
            human equivalent of murine Mx gene
  JOURNAL   Somat Cell Mol Genet 14 (2), 123-131 (1988)
   PUBMED   3162334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315465.1, M33882.1,
            EB388095.1 and BC032602.1.
            
            Summary: This gene encodes a guanosine triphosphate
            (GTP)-metabolizing protein that participates in the cellular
            antiviral response. The encoded protein is induced by type I and
            type II interferons and antagonizes the replication process of
            several different RNA and DNA viruses. There is a related gene
            located adjacent to this gene on chromosome 21, and there are
            multiple pseudogenes located in a cluster on chromosome 4.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2013].
            
            Transcript Variant: This variant (3) lacks five exons and contains
            an alternate terminal exon in the 5' UTR, compared to variant 1.
            Variants 1, 2, and 3 encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.4071685.1, AK315465.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..662
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..662
                     /product="interferon-induced GTP-binding protein Mx1
                     isoform a"
                     /note="interferon-induced GTP-binding protein Mx1;
                     interferon-induced protein p78; myxovirus (influenza
                     virus) resistance 1, interferon-inducible protein p78;
                     interferon-regulated resistance GTP-binding protein MxA;
                     myxoma resistance protein 1"
                     /calculated_mol_wt=75390
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine, in Interferon-induced
                     GTP-binding protein Mx1, alternate.
                     /evidence=ECO:0000269|Ref.9; propagated from
                     UniProtKB/Swiss-Prot (P20591.4)"
     Region          68..340
                     /region_name="DLP_1"
                     /note="Dynamin_like protein family includes dynamins and
                     Mx proteins; cd08771"
                     /db_xref="CDD:206738"
     Region          77..84
                     /region_name="G1 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
                     /note="propagated from UniProtKB/Swiss-Prot (P20591.4)"
     Site            77..84
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206738"
     Site            order(78,80..85,97..98,103,178,248,250..251,279..283,286)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206738"
     Site            order(79..80,182,195,220,222,224..227,229..230,251,
                     253..256,282..284)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:206738"
     Region          102..104
                     /region_name="G2 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
                     /note="propagated from UniProtKB/Swiss-Prot (P20591.4)"
     Site            103
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206738"
     Site            107..109
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206738"
     Region          178..181
                     /region_name="G3 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
                     /note="propagated from UniProtKB/Swiss-Prot (P20591.4)"
     Site            178..181
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206738"
     Site            order(180..181,211..212)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206738"
     Region          247..250
                     /region_name="G4 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
                     /note="propagated from UniProtKB/Swiss-Prot (P20591.4)"
     Site            247..250
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206738"
     Region          259..546
                     /region_name="Dynamin_M"
                     /note="Dynamin central region; pfam01031"
                     /db_xref="CDD:426002"
     Region          279..282
                     /region_name="G5 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
                     /note="propagated from UniProtKB/Swiss-Prot (P20591.4)"
     Site            279..281
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206738"
     Region          341..366
                     /region_name="Bundle signaling element (BSE)"
                     /note="propagated from UniProtKB/Swiss-Prot (P20591.4)"
     Region          366..533
                     /region_name="Middle domain"
                     /note="propagated from UniProtKB/Swiss-Prot (P20591.4)"
     Region          367..632
                     /region_name="Stalk"
                     /note="propagated from UniProtKB/Swiss-Prot (P20591.4)"
     Region          554..557
                     /region_name="Critical for lipid-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (P20591.4)"
     Region          571..660
                     /region_name="GED"
                     /note="Dynamin GTPase effector domain; pfam02212"
                     /db_xref="CDD:426663"
     CDS             1..662
                     /gene="MX1"
                     /gene_synonym="IFI-78K; IFI78; lncMX1-215; MX; MxA"
                     /coded_by="NM_001178046.3:159..2147"
                     /note="isoform a is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS13673.1"
                     /db_xref="GeneID:4599"
                     /db_xref="HGNC:HGNC:7532"
                     /db_xref="MIM:147150"
ORIGIN      
        1 mvvsevdiak adpaaashpl llngdatvaq knpgsvaenn lcsqyeekvr pcidlidslr
       61 algveqdlal paiavigdqs sgkssvleal sgvalprgsg ivtrcplvlk lkklvnedkw
      121 rgkvsyqdye ieisdaseve keinkaqnai agegmgishe litleissrd vpdltlidlp
      181 gitrvavgnq padigykikt likkyiqrqe tislvvvpsn vdiatteals maqevdpegd
      241 rtigiltkpd lvdkgtedkv vdvvrnlvfh lkkgymivkc rgqqeiqdql slsealqrek
      301 iffenhpyfr dlleegkatv pclaekltse lithickslp llenqiketh qriteelqky
      361 gvdipedene kmfflidkvn afnqditalm qgeetvgeed irlftrlrhe fhkwstiien
      421 nfqeghkils rkiqkfenqy rgrelpgfvn yrtfetivkq qikaleepav dmlhtvtdmv
      481 rlaftdvsik nfeeffnlhr takskiedir aeqeregekl irlhfqmeqi vycqdqvyrg
      541 alqkvrekel eeekkkkswd fgafqsssat dssmeeifqh lmayhqeask risshiplii
      601 qffmlqtygq qlqkamlqll qdkdtyswll kersdtsdkr kflkerlarl tqarrrlaqf
      661 pg
//
LOCUS       NP_001340046             521 aa            linear   PRI 19-MAR-2023
DEFINITION  centrosomal protein of 63 kDa isoform f [Homo sapiens].
ACCESSION   NP_001340046
VERSION     NP_001340046.1
DBSOURCE    REFSEQ: accession NM_001353117.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 521)
  AUTHORS   Kodani A, Knopp KA, Di Lullo E, Retallack H, Kriegstein AR, DeRisi
            JL and Reiter JF.
  TITLE     Zika virus alters centrosome organization to suppress the innate
            immune response
  JOURNAL   EMBO Rep 23 (9), e52211 (2022)
   PUBMED   35793002
REFERENCE   2  (residues 1 to 521)
  AUTHORS   Ling H, Cao CH, Han K, Lv YR, Ma XD, Cao JH, Chen JW, Li S, Lin JL,
            Fang YJ, Pan ZZ, Xie D and Wang FW.
  TITLE     CEP63 upregulates YAP1 to promote colorectal cancer progression
            through stabilizing RNA binding protein FXR1
  JOURNAL   Oncogene 41 (39), 4433-4445 (2022)
   PUBMED   35989368
  REMARK    GeneRIF: CEP63 upregulates YAP1 to promote colorectal cancer
            progression through stabilizing RNA binding protein FXR1.
REFERENCE   3  (residues 1 to 521)
  AUTHORS   Liu C, Yu F, Ma R, Zhang L, Du G, Niu D and Yin D.
  TITLE     Cep63 knockout inhibits the malignant phenotypes of papillary
            thyroid cancer cell line TPC-1
  JOURNAL   Oncol Rep 46 (3) (2021)
   PUBMED   34296302
  REMARK    GeneRIF: Cep63 knockout inhibits the malignant phenotypes of
            papillary thyroid cancer cell line TPC1.
REFERENCE   4  (residues 1 to 521)
  AUTHORS   Mahjabeen I, Maqsood Y, Abbasi R, Ahmed MW and Kayani MA.
  TITLE     Polymorphism in miRNA target sites of CEP-63 and CEP-152 ring
            complex influences expression of CEP genes and favors tumorigenesis
            in glioma
  JOURNAL   Future Oncol 17 (25), 3355-3372 (2021)
   PUBMED   34156311
  REMARK    GeneRIF: Polymorphism in miRNA target sites of CEP-63 and CEP-152
            ring complex influences expression of CEP genes and favors
            tumorigenesis in glioma.
REFERENCE   5  (residues 1 to 521)
  AUTHORS   Liu CG, Yu FQ, Ma RS, Zhang LL, Wang MQ, Feng KX, Wang T and Yin
            DT.
  TITLE     [Study on Cep63 expression and apoptosis of thyroid papillary
            carcinoma cell lines TPC-1]
  JOURNAL   Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 56 (1), 62-68 (2021)
   PUBMED   33472304
  REMARK    GeneRIF: [Study on Cep63 expression and apoptosis of thyroid
            papillary carcinoma cell lines TPC-1].
REFERENCE   6  (residues 1 to 521)
  AUTHORS   Morris JA, Kandpal G, Ma L and Austin CP.
  TITLE     DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated
            protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL:
            regulation and loss of interaction with mutation
  JOURNAL   Hum Mol Genet 12 (13), 1591-1608 (2003)
   PUBMED   12812986
REFERENCE   7  (residues 1 to 521)
  AUTHORS   Takahashi M, Yamagiwa A, Nishimura T, Mukai H and Ono Y.
  TITLE     Centrosomal proteins CG-NAP and kendrin provide microtubule
            nucleation sites by anchoring gamma-tubulin ring complex
  JOURNAL   Mol Biol Cell 13 (9), 3235-3245 (2002)
   PUBMED   12221128
REFERENCE   8  (residues 1 to 521)
  AUTHORS   Mayor T, Stierhof YD, Tanaka K, Fry AM and Nigg EA.
  TITLE     The centrosomal protein C-Nap1 is required for cell cycle-regulated
            centrosome cohesion
  JOURNAL   J Cell Biol 151 (4), 837-846 (2000)
   PUBMED   11076968
REFERENCE   9  (residues 1 to 521)
  AUTHORS   Golsteyn RM, Mundt KE, Fry AM and Nigg EA.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
REFERENCE   10 (residues 1 to 521)
  AUTHORS   Verloes,A., Drunat,S., Gressens,P. and Passemard,S.
  TITLE     Primary Autosomal Recessive Microcephalies and Seckel Syndrome
            Spectrum Disorders - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301772
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010207.18, AC026117.15,
            AC139764.5, AC109912.10 and BG182631.1.
            
            Summary: This gene encodes a protein with six coiled-coil domains.
            The protein is localized to the centrosome, a non-membraneous
            organelle that functions as the major microtubule-organizing center
            in animal cells. Several alternatively spliced transcript variants
            have been found, but their biological validity has not been
            determined. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.3530999.1,
                                           SRR1803612.18013.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..521
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.2"
     Protein         1..521
                     /product="centrosomal protein of 63 kDa isoform f"
                     /note="centrosome protein CEP63; centrosomal protein
                     63kDa"
                     /calculated_mol_wt=60566
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q96MT8.1)"
     Region          18..280
                     /region_name="CEP63"
                     /note="Centrosomal protein of 63 kDa; pfam17045"
                     /db_xref="CDD:435709"
     Region          <136..464
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Site            278
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96MT8.1)"
     CDS             1..521
                     /gene="CEP63"
                     /gene_synonym="SCKL6"
                     /coded_by="NM_001353117.2:172..1737"
                     /note="isoform f is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS93388.1"
                     /db_xref="GeneID:80254"
                     /db_xref="HGNC:HGNC:25815"
                     /db_xref="MIM:614724"
ORIGIN      
        1 meallegiqn rghgggflts ceaelqelmk qidimvahkk sewegrthal etclkireqe
       61 lkslrsqldv thkevgmlhq qveehekikq emtmeykqel kklheelcil krsyeklqkk
      121 qmrefrgntk nhredrseie rltakieefr qksldwekqr liyqqqvssl eaqrkalaeq
      181 seiiqaqlvn rkqklesvel ssqseiqhls sklerandti caneleierl tmrvndlvgt
      241 smtvlqeqqq keeklresek llealqeekr elkaalqsqe nliheariqk eklqekvkat
      301 ntqhaveair preeslaekk ytsqgqgdld svlsqlnfth tsedllqaev tclegslesv
      361 satckqlsqe lmekyeelkr meahnneyka eikklkeqil qgeqsyssal egmkmeishl
      421 tqelhqrdit iastkgsssd mekrlraemq kaedkavehk eildqleslk lenrhlsemv
      481 mklelglher wgftmlsslv lnfgiqairq pqrpkvlelq v
//
LOCUS       NP_954657                430 aa            linear   PRI 19-MAR-2023
DEFINITION  keratin, type I cytoskeletal 18 [Homo sapiens].
ACCESSION   NP_954657
VERSION     NP_954657.1
DBSOURCE    REFSEQ: accession NM_199187.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 430)
  AUTHORS   Heinrich S, Austgen T, Castven D, Hess M, Labenz C, Kirstein M,
            Zimpel C, Stockhoff L, Maasoumy B, Heinrich B, Wedemeyer HH, Galle
            PR, Binder H, Nguyen-Tat M and Marquardt JU.
  TITLE     Markers of cell death predict therapy response in patients with
            cirrhosis and hepatorenal syndrome
  JOURNAL   United European Gastroenterol J 11 (1), 92-102 (2023)
   PUBMED   36441143
  REMARK    GeneRIF: Markers of cell death predict therapy response in patients
            with cirrhosis and hepatorenal syndrome.
REFERENCE   2  (residues 1 to 430)
  AUTHORS   Singh Bhangu J, Macher-Beer A, Schimek V, Garmroudi B, Tamandl D,
            Unger LW, Bachleitner-Hofmann T and Oehler R.
  TITLE     Circulating caspase-cleaved cytokeratin 18 correlates with tumour
            burden and response to therapy in patients with colorectal cancer
            liver metastasis
  JOURNAL   Clin Chim Acta 538, 53-59 (2023)
   PUBMED   36375525
  REMARK    GeneRIF: Circulating caspase-cleaved cytokeratin 18 correlates with
            tumour burden and response to therapy in patients with colorectal
            cancer liver metastasis.
REFERENCE   3  (residues 1 to 430)
  AUTHORS   Eguchi A, Iwasa M, Yamada M, Tamai Y, Shigefuku R, Hasegawa H,
            Hirokawa Y, Hayashi A, Okuno K, Matsushita Y, Nakatsuka T, Enooku
            K, Sakaguchi K, Kobayashi Y, Yamaguchi T, Watanabe M, Takei Y and
            Nakagawa H.
  TITLE     A new detection system for serum fragmented cytokeratin 18 as a
            biomarker reflecting histologic activities of human nonalcoholic
            steatohepatitis
  JOURNAL   Hepatol Commun 6 (8), 1987-1999 (2022)
   PUBMED   35485207
  REMARK    GeneRIF: A new detection system for serum fragmented cytokeratin 18
            as a biomarker reflecting histologic activities of human
            nonalcoholic steatohepatitis.
REFERENCE   4  (residues 1 to 430)
  AUTHORS   Gao Z, Long Y, Wu Y, Pu Y and Xue F.
  TITLE     LncRNA LINC02253 activates KRT18/MAPK/ERK pathway by mediating
            N6-methyladenosine modification of KRT18 mRNA in gastric cancer
  JOURNAL   Carcinogenesis 43 (5), 419-429 (2022)
   PUBMED   35136989
  REMARK    GeneRIF: LncRNA LINC02253 activates KRT18/MAPK/ERK pathway by
            mediating N6-methyladenosine modification of KRT18 mRNA in gastric
            cancer.
REFERENCE   5  (residues 1 to 430)
  AUTHORS   Li F, Lei F, Wen C, Ge Q and Zhu L.
  TITLE     Cytokeratin 18 can help predict liver fibrosis in HCV infected
            patients with type 2 diabetes mellitus
  JOURNAL   BMC Gastroenterol 21 (1), 391 (2021)
   PUBMED   34670509
  REMARK    GeneRIF: Cytokeratin 18 can help predict liver fibrosis in HCV
            infected patients with type 2 diabetes mellitus.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 430)
  AUTHORS   Omary MB, Baxter GT, Chou CF, Riopel CL, Lin WY and Strulovici B.
  TITLE     PKC epsilon-related kinase associates with and phosphorylates
            cytokeratin 8 and 18
  JOURNAL   J Cell Biol 117 (3), 583-593 (1992)
   PUBMED   1374067
REFERENCE   7  (residues 1 to 430)
  AUTHORS   Heath P, Elvin P, Jenner D, Gammack A, Morten J and Markham A.
  TITLE     Localisation of a cDNA clone for human cytokeratin 18 to chromosome
            17p11-p12 by in situ hybridisation
  JOURNAL   Hum Genet 85 (6), 669-670 (1990)
   PUBMED   1699878
REFERENCE   8  (residues 1 to 430)
  AUTHORS   Waseem A, Gough AC, Spurr NK and Lane EB.
  TITLE     Localization of the gene for human simple epithelial keratin 18 to
            chromosome 12 using polymerase chain reaction
  JOURNAL   Genomics 7 (2), 188-194 (1990)
   PUBMED   1693358
REFERENCE   9  (residues 1 to 430)
  AUTHORS   Waseem A, Alexander CM, Steel JB and Lane EB.
  TITLE     Embryonic simple epithelial keratins 8 and 18: chromosomal location
            emphasizes difference from other keratin pairs
  JOURNAL   New Biol 2 (5), 464-478 (1990)
   PUBMED   1705144
REFERENCE   10 (residues 1 to 430)
  AUTHORS   Romano,V., Hatzfeld,M., Magin,T.M., Zimbelmann,R., Franke,W.W.,
            Maier,G. and Ponstingl,H.
  TITLE     Cytokeratin expression in simple epithelia. I. Identification of
            mRNA coding for human cytokeratin no. 18 by a cDNA clone
  JOURNAL   Differentiation 30 (3), 244-253 (1986)
   PUBMED   2422083
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC107016.20, BG753529.1,
            CD106591.1 and X12881.1.
            
            Summary: KRT18 encodes the type I intermediate filament chain
            keratin 18. Keratin 18, together with its filament partner keratin
            8, are perhaps the most commonly found members of the intermediate
            filament gene family. They are expressed in single layer epithelial
            tissues of the body. Mutations in this gene have been linked to
            cryptogenic cirrhosis. Two transcript variants encoding the same
            protein have been found for this gene. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3849221.1,
                                           SRR14372079.2478901.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..430
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     Protein         1..430
                     /product="keratin, type I cytoskeletal 18"
                     /note="cytokeratin 18; cell proliferation-inducing gene 46
                     protein; keratin 18, type I"
                     /calculated_mol_wt=47927
     Region          2..79
                     /region_name="Head"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:7538124; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            7
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            10
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            15
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17924679,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            18
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            30
                     /site_type="glycosylation"
                     /note="O-linked (GlcNAc) serine, alternate.
                     /evidence=ECO:0000269|PubMed:20729549,
                     ECO:0000269|PubMed:7538124. /id=CAR_000175; propagated
                     from UniProtKB/Swiss-Prot (P05783.2)"
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphoserine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P05784; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            31
                     /site_type="glycosylation"
                     /note="O-linked (GlcNAc) serine, alternate.
                     /evidence=ECO:0000269|PubMed:20729549,
                     ECO:0000269|PubMed:7538124. /id=CAR_000193; propagated
                     from UniProtKB/Swiss-Prot (P05783.2)"
     Site            31
                     /site_type="phosphorylation"
                     /note="Phosphoserine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P05784; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            34
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:15368451,
                     ECO:0000269|PubMed:9524113, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P05783.2)"
     Site            36
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P05784; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            42
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            45
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            49
                     /site_type="glycosylation"
                     /note="O-linked (GlcNAc) serine, alternate.
                     /evidence=ECO:0000269|PubMed:20729549,
                     ECO:0000269|PubMed:7538124. /id=CAR_000194; propagated
                     from UniProtKB/Swiss-Prot (P05783.2)"
     Site            49
                     /site_type="phosphorylation"
                     /note="Phosphoserine, alternate.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            51
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPKAPK2 and MAPKAPK3.
                     /evidence=ECO:0000250|UniProtKB:P05784; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            52
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            53
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CAMK, PKC/PRKCE and AURKA.
                     /evidence=ECO:0000269|PubMed:15368451,
                     ECO:0000269|PubMed:16424149, ECO:0000269|PubMed:7523419;
                     propagated from UniProtKB/Swiss-Prot (P05783.2)"
     Site            55
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            60
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            65
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Region          70..373
                     /region_name="Necessary for interaction with PNN.
                     /evidence=ECO:0000269|PubMed:10809736"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2)"
     Region          77..128
                     /region_name="Interaction with TRADD.
                     /evidence=ECO:0000269|PubMed:11684708"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2)"
     Region          79..391
                     /region_name="Filament"
                     /note="Intermediate filament protein; pfam00038"
                     /db_xref="CDD:425436"
     Region          80..115
                     /region_name="Coil 1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2)"
     Site            93
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            100
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Region          116..132
                     /region_name="Linker 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2)"
     Site            131
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Region          133..224
                     /region_name="Coil 1B"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2)"
     Site            177
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Region          225..248
                     /region_name="Linker 12"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2)"
     Site            238..239
                     /site_type="cleavage"
                     /note="Cleavage, by caspase-3, caspase-6 or caspase-7;
                     propagated from UniProtKB/Swiss-Prot (P05783.2)"
     Region          243..391
                     /region_name="Interaction with DNAJB6.
                     /evidence=ECO:0000269|PubMed:10954706"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2)"
     Region          249..387
                     /region_name="Coil 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2)"
     Site            271
                     /site_type="other"
                     /note="Stutter; propagated from UniProtKB/Swiss-Prot
                     (P05783.2)"
     Site            302
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            305
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            319
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            323
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            331
                     /site_type="other"
                     /note="Stutter; propagated from UniProtKB/Swiss-Prot
                     (P05783.2)"
     Region          388..430
                     /region_name="Tail"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2)"
     Site            398
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            399
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            401
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            404
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     Site            426
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P05783.2)"
     CDS             1..430
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /coded_by="NM_199187.2:86..1378"
                     /db_xref="CCDS:CCDS31809.1"
                     /db_xref="GeneID:3875"
                     /db_xref="HGNC:HGNC:6430"
                     /db_xref="MIM:148070"
ORIGIN      
        1 msfttrstfs tnyrslgsvq apsygarpvs saasvyagag gsgsrisvsr stsfrggmgs
       61 gglatgiagg lagmggiqne ketmqslndr lasyldrvrs letenrrles kirehlekkg
      121 pqvrdwshyf kiiedlraqi fantvdnari vlqidnarla addfrvkyet elamrqsven
      181 dihglrkvid dtnitrlqle teiealkeel lfmkknheee vkglqaqias sgltvevdap
      241 ksqdlakima diraqydela rknreeldky wsqqieestt vvttqsaevg aaettltelr
      301 rtvqsleidl dsmrnlkasl enslrevear yalqmeqlng illhlesela qtraegqrqa
      361 qeyeallnik vkleaeiaty rrlledgedf nlgdaldssn smqtiqkttt rrivdgkvvs
      421 etndtkvlrh
//
LOCUS       XP_047287644             738 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing protein 41 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047287644
VERSION     XP_047287644.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431688.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..738
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..738
                     /product="leucine-rich repeat-containing protein 41
                     isoform X1"
                     /calculated_mol_wt=80164
     CDS             1..738
                     /gene="LRRC41"
                     /gene_synonym="MUF1; PP7759"
                     /coded_by="XM_047431688.1:47..2263"
                     /db_xref="GeneID:10489"
                     /db_xref="HGNC:HGNC:16917"
                     /db_xref="MIM:618753"
ORIGIN      
        1 mnfvtdragq skdgdlngqa dphrglargr ggrgqearsg akqagpgrlr ldcgcgprel
       61 tlgwagqesl gcrtalpgpi lqsilpllni yylerieeta lkkglstqai wrrlwdelmk
      121 trpsslesvt cwrakfmeaf fshvlrgtid vssdrrlcdq rfspllhssr hvrqlticnm
      181 lqgatelvae pnrrvletla sslhtlkfrh llfsdvaaqq slrqllhqli hhgavsqvsl
      241 yswpvpesal fililtmsag fwqpgpggpp crlcgeasrg rapsrdegsl llgsrrprrd
      301 aaercaaalm asrrkseakq mpraapatrv trrstqeslt aggtdlkrel hppatsheap
      361 gtkrspsapa atssasssts sykrapassa pqpkplkrfk raagkkgart rqgpgaesed
      421 lydfvfivag ekedgeemei gevacgaldg sdpsclglpa leasqrfrsi stlelftvpl
      481 steaaltlch llsswvsles ltlsynglgs nifrlldslr alsgqagcrl ralhlsdlfs
      541 plpileltra ivralpllrv lsirvdhpsq rdnpgvpgna gppshiigde eipencleql
      601 emgfprgaqp apllcsvlka sgslqqlsld satfaspqdf glvlqtlkey nlalkrlsfh
      661 dmnladcqse vlfllqnltl qeitfsfcrl fekrpaqflp emvaamkgns tlkglrlpgn
      721 rlgggqtlgr ergkelgl
//
LOCUS       XP_011507435             354 aa            linear   PRI 20-MAR-2023
DEFINITION  Fc receptor-like protein 1 isoform X9 [Homo sapiens].
ACCESSION   XP_011507435
VERSION     XP_011507435.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011509133.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..354
                     /product="Fc receptor-like protein 1 isoform X9"
                     /calculated_mol_wt=38629
     Region          44..126
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          55..59
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          69..73
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          91..95
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          105..110
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          133..205
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          150..154
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          163..167
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          198..203
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          212..215
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..354
                     /gene="FCRL1"
                     /gene_synonym="CD307a; FCRH1; IFGP1; IRTA5"
                     /coded_by="XM_011509133.3:194..1258"
                     /db_xref="GeneID:115350"
                     /db_xref="HGNC:HGNC:18509"
                     /db_xref="MIM:606508"
ORIGIN      
        1 mwkedtgsyw ceaqtmaskv lrsrrsqinv hrvpvadvsl etqppggqvm egdrlvlics
       61 vamgtgditf lwykgavgln lqsktqrslt aeyeipsvre sdaeqyycva engygpspsg
      121 lvsitvripv srpilmlrap raqaavedvl elhcealrgs ppilywfyhe ditlgsrsap
      181 sgggasfnls lteehsgnys ceannglgaq rseavtlnft vptgarsnhl tsgvieglls
      241 tlgpatvall fcyglkrkig rrsardplrs lpsplpqeft ylnsptpgql qpiyenvnvv
      301 sgdevyslay ynqpeqesva aetlgthmed kvsldiysrl rkanitdvdy edam
//
LOCUS       XP_016857673             976 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptonemal complex protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_016857673
VERSION     XP_016857673.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002184.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..976
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..976
                     /product="synaptonemal complex protein 1 isoform X1"
                     /calculated_mol_wt=114061
     Region          28..792
                     /region_name="SCP-1"
                     /note="Synaptonemal complex protein 1 (SCP-1); pfam05483"
                     /db_xref="CDD:114219"
     CDS             1..976
                     /gene="SYCP1"
                     /gene_synonym="CT8; HOM-TES-14; SCP-1; SCP1"
                     /coded_by="XM_017002184.2:224..3154"
                     /db_xref="GeneID:6847"
                     /db_xref="HGNC:HGNC:11487"
                     /db_xref="MIM:602162"
ORIGIN      
        1 mekqkpfalf vpprssssqv savkpqtlgg dstffksfnk cteddfefpf aktnlsknge
       61 nidsdpalqk vnflpvleqv gnsdchyqeg lkdsdlense glsrvyskly keaekikkwk
      121 vsteaelrqk esklqenrki ieaqrkaiqe lqfgnekvsl kleegiqenk dlikennatr
      181 hlcnllketc arsaektkky eyereetrqv ymdlnnniek mitafeelrv qaensrlemh
      241 fklkedyeki qhleqeykke indkekqvsl lliqiteken kmkdltflle esrdkvnqle
      301 ektklqsenl kqsiekqhhl tkeledikvs lqrsvstqka leedlqiatk ticqlteeke
      361 tqmeesnkar aahsfvvtef ettvcsleel lrteqqrlek nedqlkiltm elqkkssele
      421 emtkltnnke veleelkkvl geketllyen kqfekiaeel kgteqeligl lqarekevhd
      481 leiqltaitt seqyyskevk dlktelenek lknteltshc nklslenkel tqetsdmtle
      541 lknqqedinn nkkqeermlk qienlqetet qlrneleyvr eelkqkrdev kckldkseen
      601 cnnlrkqven knkyieelqq enkalkkkgt aeskqlnvye ikvnklelel esakqkfgei
      661 tdtyqkeied kkiseenlle evekakviad eavklqkeid krcqhkiaem valmekhkhq
      721 ydkiieerds elglykskeq eqsslrasle ielsnlkael lsvkkqleie reekeklkre
      781 akentatlke kkdkktqtfl letpeiywkl dskavpsqtv srnftsvdhg iskdkrdylw
      841 tsakntlstp lpkaytvktp tkpklqqren lnipieeskk krkmafefdi nsdssettdl
      901 lsmvseeetl ktlyrnnnpp ashlcvktpk kapsslttpg stlkfgairk mredrwavia
      961 kmdrkkklke aeklfv
//
LOCUS       XP_047286610             402 aa            linear   PRI 20-MAR-2023
DEFINITION  SH3 domain-containing protein 21 isoform X10 [Homo sapiens].
ACCESSION   XP_047286610
VERSION     XP_047286610.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430654.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..402
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..402
                     /product="SH3 domain-containing protein 21 isoform X10"
                     /calculated_mol_wt=44436
     Region          <202..>379
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     CDS             1..402
                     /gene="SH3D21"
                     /gene_synonym="C1orf113"
                     /coded_by="XM_047430654.1:134..1342"
                     /db_xref="GeneID:79729"
                     /db_xref="HGNC:HGNC:26236"
ORIGIN      
        1 mpdktatper ppapenapss kkipapdkvp spektltlgd kasipgnsts gkipapdkvp
       61 tpekmvtped kasipensii peetltvdkp stpervfsve espaleappm dkvpnpkmap
      121 lgdeaptlek vltpelseee vstrddiqfh hfsseealqk vkyfvakedp ssqeeahtpe
      181 apppqppsse rclgemkctl vrgdssprqa elksgpasrp alekphphee attlpeeaps
      241 ndertpeeea ppneqrplre evlpkegvas keevtlkeel ppkeevapke evppierafa
      301 qktrpikppp dsqetlalps lvpqnytenk negvdvtslr geveslrral elmevqlerk
      361 ltdiweelks ekeqrrrlev qvmqgtqksq tprvihtqtq ty
//
LOCUS       XP_047288220             333 aa            linear   PRI 20-MAR-2023
DEFINITION  proline/serine-rich coiled-coil protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047288220
VERSION     XP_047288220.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432264.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..333
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..333
                     /product="proline/serine-rich coiled-coil protein 1
                     isoform X2"
                     /calculated_mol_wt=35501
     Region          8..122
                     /region_name="GTSE1_N"
                     /note="G-2 and S-phase expressed 1; pfam15259"
                     /db_xref="CDD:434581"
     Region          <98..>333
                     /region_name="PRK07003"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:235906"
     CDS             1..333
                     /gene="PSRC1"
                     /gene_synonym="DDA3; FP3214"
                     /coded_by="XM_047432264.1:210..1211"
                     /db_xref="GeneID:84722"
                     /db_xref="HGNC:HGNC:24472"
                     /db_xref="MIM:613126"
ORIGIN      
        1 medleedvrf ivdetldfgg lspsdsreee ditvlvtpek plrrglshrs dpnavapapq
       61 gvrlslgpls pekleeilde anrlaaqleq calqdresag eglgprrvkp sprretfvlk
      121 dspvrdllpt vnsltrstps pssltprlrs ndrkgsvral ratsgkrpsn mkresptcnl
      181 fpaskspass pltrstppvr gragpsgraa aspptpirsv lapqpstsns qrlprpqgaa
      241 aksssqlpip saiprpasrm pltsrsvppg rgalppdsls trkglprpst aghrvresgh
      301 kvpvsqrlnl pvmgatrsnl qpprkvavpg ptr
//
LOCUS       XP_047280426             916 aa            linear   PRI 20-MAR-2023
DEFINITION  sorbin and SH3 domain-containing protein 1 isoform X13 [Homo
            sapiens].
ACCESSION   XP_047280426
VERSION     XP_047280426.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424470.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..916
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..916
                     /product="sorbin and SH3 domain-containing protein 1
                     isoform X13"
                     /calculated_mol_wt=102051
     Region          329..370
                     /region_name="Sorb"
                     /note="Sorbin homologous domain; cl02617"
                     /db_xref="CDD:445856"
     Region          678..732
                     /region_name="SH3_Sorbs1_1"
                     /note="First Src Homology 3 domain of Sorbin and SH3
                     domain containing 1 (Sorbs1), also called ponsin; cd11919"
                     /db_xref="CDD:212852"
     Site            order(684,686,689,693,711..712,725,727..728)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212852"
     Region          752..809
                     /region_name="SH3_Sorbs1_2"
                     /note="Second Src Homology 3 domain of Sorbin and SH3
                     domain containing 1 (Sorbs1), also called ponsin; cd11922"
                     /db_xref="CDD:212855"
     Site            order(758,760,763,767,785..786,801,803..804)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212855"
     Region          857..915
                     /region_name="SH3_Sorbs1_3"
                     /note="Third (or C-terminal) Src Homology 3 domain of
                     Sorbin and SH3 domain containing 1 (Sorbs1), also called
                     ponsin; cd11916"
                     /db_xref="CDD:212849"
     Site            order(864,866,869,873,891..892,907,909..910)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212849"
     CDS             1..916
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /coded_by="XM_047424470.1:184..2934"
                     /db_xref="GeneID:10580"
                     /db_xref="HGNC:HGNC:14565"
                     /db_xref="MIM:605264"
ORIGIN      
        1 mssecdggsk avmnglapgs ngqdkdmdlt kictgkgavt lrasssyret pssspaspqe
       61 trqheskpde wrlsssadan gnaqpsslaa kgyrsvhpnl psdksqdats ssaaqpeviv
      121 vplylvntdr gqegtarppt plgplgcvpt ipatasaasp ltfptlddfi pphlqrwphh
      181 sqparasgsf apisqtppsf spppplvppa pedlrrvsep dltgavsstd sspllnevss
      241 sligtdsqaf psvskpssay psttivnpti vllqhnreqq krlsslsdpv serrvgeqds
      301 aptqekptsp gkaiekrakd dsrrvvkstq dlsdvsmdev giplrnters kdwyktmfkq
      361 ihklnrdtpe enpyfptykf pelpeiqqts edddsdlysp rysfsedtks plsvprskse
      421 msyidgekvv krsatlplpa rssslkssse rndweppdkk vdtrkyraep ksiyeyqpgk
      481 ssvltnekms rdispeeidl knepwykffs elefgkpssa isptpeisse tpgyiyssnf
      541 havkresdga pgdltslene rqiyksvleg gdiplqglsg lkrpsssast kdsesprhfi
      601 padylestee firrrhddke klladqrrlk reqeeadiaa rrhtgvipth hqfitnerfg
      661 dllniddtak rksgsemrpa rakfdfkaqt lkelplqkgd ivyiykqidq nwyegehhgr
      721 vgifprtyie llppaekaqp kkltpvqvle ygeaiakfnf ngdtqvemsf rkgeritllr
      781 qvdenwyegr ipgtsrqgif pityvdvikr plvknpvdym dlpfssspsr sataspqqpq
      841 aqqrrvtpdr sqtsqdlfsy qalysyipqn ddelelrdgd ivdvmekcdd gwfvgtsrrt
      901 kqfgtfpgny vkplyl
//
LOCUS       XP_047280451             494 aa            linear   PRI 20-MAR-2023
DEFINITION  CUGBP Elav-like family member 2 isoform X8 [Homo sapiens].
ACCESSION   XP_047280451
VERSION     XP_047280451.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424495.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..494
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..494
                     /product="CUGBP Elav-like family member 2 isoform X8"
                     /calculated_mol_wt=52537
     Region          15..98
                     /region_name="RRM1_CELF1_2_Bruno"
                     /note="RNA recognition motif 1 (RRM1) found in CUGBP
                     Elav-like family member CELF-1, CELF-2, Drosophila
                     melanogaster Bruno protein and similar proteins; cd12631"
                     /db_xref="CDD:410040"
     Site            order(19,21..22,25,46..49,51..52,59..61,63,93,95,97..98)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410040"
     Region          107..187
                     /region_name="RRM2_CELF1_2"
                     /note="RNA recognition motif 2 (RRM2) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12634"
                     /db_xref="CDD:410042"
     Site            order(109,111,113..114,117,136,138,140,148..150,152,
                     178..179,182,184,186..187)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410042"
     Region          402..493
                     /region_name="RRM3_CELF1_2"
                     /note="RNA recognition motif 3 (RRM3) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12638"
                     /db_xref="CDD:241082"
     CDS             1..494
                     /gene="CELF2"
                     /gene_synonym="BRUNOL3; CELF-2; CUG-BP2; CUGBP2; DEE97;
                     ETR-3; ETR3; NAPOR"
                     /coded_by="XM_047424495.1:278..1762"
                     /db_xref="GeneID:10659"
                     /db_xref="HGNC:HGNC:2550"
                     /db_xref="MIM:602538"
ORIGIN      
        1 mngaldhsdq pdpdaikmfv gqiprswsek elkelfepyg avyqinvlrd rsqnppqskg
       61 ccfvtfytrk aaleaqnalh niktlpgmhh piqmkpadse ksnavedrkl figmvskkcn
      121 endirvmfsp fgqieecril rgpdglsrgc afvtfstram aqnaikamhq sqtmegcssp
      181 ivvkfadtqk dkeqrrlqqq laqqmqqlnt atwgnltglg gltpqylall qqatsssnlg
      241 afsgiqqmag mnalqlqnla tlaaaaaaaq tsatstnanp lsttssalga ltspvaastp
      301 nstagaamns ltslgtlqgl agatvglnni nalagtinia qmlsgmaaln gglgatgltn
      361 gtagtmdalt qaysgiqqya aaalptlysq sllqqqsaag sqkegpegan lfiyhlpqef
      421 gdqdilqmfm pfgnvisakv fidkqtnlsk cfgfvsydnp vsaqaaiqam ngfqigmkrl
      481 kvqlkrsknd skpy
//
LOCUS       XP_016871073             393 aa            linear   PRI 20-MAR-2023
DEFINITION  pro-neuregulin-3, membrane-bound isoform isoform X14 [Homo
            sapiens].
ACCESSION   XP_016871073
VERSION     XP_016871073.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017015584.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..393
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..393
                     /product="pro-neuregulin-3, membrane-bound isoform isoform
                     X14"
                     /calculated_mol_wt=41260
     Region          <297..357
                     /region_name="PHA02887"
                     /note="EGF-like protein; Provisional"
                     /db_xref="CDD:165214"
     CDS             1..393
                     /gene="NRG3"
                     /gene_synonym="HRG3; pro-NRG3"
                     /coded_by="XM_017015584.3:148..1329"
                     /db_xref="GeneID:10718"
                     /db_xref="HGNC:HGNC:7999"
                     /db_xref="MIM:605533"
ORIGIN      
        1 msegaaaasp pgaasaaaas aeegtaaaaa aaaagggpdg ggegaaeppr elrcsdcivw
       61 nrqqtwlcvv plfigfiglg lslmllkwiv vgsvkeyvpt dlvdskgmgq dpfflskpss
      121 fpkametttt ttsttspatp saggaassrt pnristrltt itraptrfpg hrvpiraspr
      181 sttarntaap atvpsttapf fssstlgsrp pvpgtpstqa mpswptaaya tssylhdstp
      241 swtlspfqda asssssssss attttpetst spkfrprdrr haihgnmgkt rvvrrqkqeq
      301 dtttysters ehfkpcrdkd layclndgec fvietltgsh khcrckegyq gvrcdqflpk
      361 tdsilsdpkt gsvlkapgkm lgawsgcdse edw
//
LOCUS       XP_016871127             105 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM24A isoform X1 [Homo sapiens].
ACCESSION   XP_016871127
VERSION     XP_016871127.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017015638.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..105
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..105
                     /product="protein FAM24A isoform X1"
                     /calculated_mol_wt=11127
     Region          33..105
                     /region_name="FAM24"
                     /note="FAM24 family; pfam15193"
                     /db_xref="CDD:434530"
     CDS             1..105
                     /gene="FAM24A"
                     /coded_by="XM_017015638.2:89..406"
                     /db_xref="GeneID:118670"
                     /db_xref="HGNC:HGNC:23470"
ORIGIN      
        1 makmfdlrtk imigigssll vaamvllsvv fclyfkvaka lkaakdpdav avknhnpdkv
       61 cwatnsqaka ttmescpslq ccegcrmhas sdslppcccd inegl
//
LOCUS       XP_016871865             318 aa            linear   PRI 20-MAR-2023
DEFINITION  S-acyl fatty acid synthase thioesterase, medium chain isoform X1
            [Homo sapiens].
ACCESSION   XP_016871865
VERSION     XP_016871865.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017016376.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..318
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..318
                     /product="S-acyl fatty acid synthase thioesterase, medium
                     chain isoform X1"
                     /calculated_mol_wt=35687
     Region          22..295
                     /region_name="GrsT"
                     /note="Surfactin synthase thioesterase subunit [Secondary
                     metabolites biosynthesis, transport and catabolism];
                     COG3208"
                     /db_xref="CDD:225749"
     CDS             1..318
                     /gene="OLAH"
                     /gene_synonym="AURA1; SAST; TE2; THEDC1"
                     /coded_by="XM_017016376.3:221..1177"
                     /db_xref="GeneID:55301"
                     /db_xref="HGNC:HGNC:25625"
ORIGIN      
        1 mergdqpkrt rnenifncly knpeatfkli cfpwmgggst hfakwgqdth dlleetashh
       61 vakaglklrr ssdppasayp cagvshrrre ppclakilgl fwiliffmhs lrlpgresrv
      121 eeplendisq lvdevvcalq pviqdkpfaf fghsmgsyia frtalglken nqpeplhlfl
      181 ssatpvhska whripkddel seeqishylm efggtpkhfa eakefvkqcs piiradlniv
      241 rsctsnvpsk avlscdltcf vgsediakdm eawkdvtsgn akiyqlpggh fylldpanek
      301 liknyiikcl evssisnf
//
LOCUS       XP_011543020             715 aa            linear   PRI 20-MAR-2023
DEFINITION  RAS guanyl-releasing protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_011543020
VERSION     XP_011543020.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544718.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..715
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..715
                     /product="RAS guanyl-releasing protein 2 isoform X1"
                     /calculated_mol_wt=80068
     Region          255..492
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases; smart00147"
                     /db_xref="CDD:214539"
     Site            order(288..290,298..299,301..303,305..306,309..310,313,
                     346,349..350,352..354,356..359,361..362,382,385,390..392,
                     395,408..410,413..415,417..419,421..424,441,445,480,
                     483..484)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     Region          535..586
                     /region_name="EFh"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     cd00051"
                     /db_xref="CDD:238008"
     Site            order(544,546,548,555,573,575,577,584)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238008"
     Region          601..656
                     /region_name="C1"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     superfamily; cl00040"
                     /db_xref="CDD:412127"
     CDS             1..715
                     /gene="RASGRP2"
                     /gene_synonym="CALDAG-GEFI; CDC25L"
                     /coded_by="XM_011544718.3:242..2389"
                     /db_xref="GeneID:10235"
                     /db_xref="HGNC:HGNC:9879"
                     /db_xref="MIM:605577"
ORIGIN      
        1 mcragvpfrg arlcqnlgvr gvrelgpqgg pctangrgat ewacapmgvc acvwectcve
       61 rhclacvhtc edvsacvaag lkaglaqvns tsrrrprprv cilgwtswgf gpspvggsrs
      121 aawaqptprr rpwqapwtwt raarwrscsa gaskpslaak llhiyqqsrk dnsnslqvkt
      181 chlvrywisa fpaefdlnpe laeqikelka lldqegnrrh sslididsvp tykwkrqvtq
      241 rnpvgqkkrk msllfdhlep melaehltyl eyrsfckilf qdyhsfvthg ctvdnpvler
      301 fislfnsvsq wvqlmilskp tapqralvit hfvhvaekll qlqnfntlma vvgglshssi
      361 srlkethshv spetiklweg ltelvtatgn ygnyrrrlaa cvgfrfpilg vhlkdlvalq
      421 lalpdwldpa rtrlngakmk qlfsileela mvtslrppvq anpdllsllt vsldqyqted
      481 elyqlslqre prskssptsp tsctppprpp vleewtsaak pkldqalvve hiekmvesvf
      541 rnfdvdgdgh isqeefqiir gnfpylsafg dldqnqdgci sreemvsyfl rsssvlggrm
      601 gfvhnfqesn slrpvacrhc kalilgiykq glkcracgvn chkqckdrls vecrrraqsv
      661 slegsapsps pmhshhhraf sfslprpgrr gsrppaeire eevqtvedgv fdihl
//
LOCUS       XP_011541205             345 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protease serine 4 isoform X8 [Homo sapiens].
ACCESSION   XP_011541205
VERSION     XP_011541205.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011542903.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..345
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..345
                     /product="transmembrane protease serine 4 isoform X8"
                     /calculated_mol_wt=38387
     Region          58..92
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(62,71,82..83)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(75,78,82,88..89)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            85..89
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          108..197
                     /region_name="SRCR_2"
                     /note="Scavenger receptor cysteine-rich domain; cl02509"
                     /db_xref="CDD:445805"
     Region          204..>304
                     /region_name="Tryp_SPc"
                     /note="Trypsin-like serine protease; Many of these are
                     synthesized as inactive precursor zymogens that are
                     cleaved during limited proteolysis to generate their
                     active forms. Alignment contains also inactive enzymes
                     that have substitutions of the catalytic triad...;
                     cl21584"
                     /db_xref="CDD:451320"
     Site            205
                     /site_type="active"
                     /note="cleavage site [active]"
                     /db_xref="CDD:238113"
     CDS             1..345
                     /gene="TMPRSS4"
                     /gene_synonym="CAP2; CAPH2; MT-SP2; TMPRSS3"
                     /coded_by="XM_011542903.4:226..1263"
                     /db_xref="GeneID:56649"
                     /db_xref="HGNC:HGNC:11878"
                     /db_xref="MIM:606565"
ORIGIN      
        1 mlqdpdsdqp lnsldvkplr kpripmetfr kvgipiiial lslasiiivv vlikvildky
       61 yflcgqplhf iprkqlcdge ldcplgedee hcvksfpegp avavrlskdr stlqvldsat
      121 gnwfsacfdn ftealaetac rqmgysskpt fraveigpdq dldvveiten sqelrmrnss
      181 gpclsgslvs lhclacgksl ktprvvgvee asvdswpwqv siqydkqhvc ggsildphwv
      241 ltaahcfrkh tdvfnwkvra gsdklgsfps lavakiiiie fnpmypkdnd ialmklqfpl
      301 tfsdqdsqlw gpqdtgplek rgfhcqislg nifilqlpsw ntlvy
//
LOCUS       XP_047284242             183 aa            linear   PRI 20-MAR-2023
DEFINITION  GTPase RhebL1 isoform X3 [Homo sapiens].
ACCESSION   XP_047284242
VERSION     XP_047284242.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428286.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..183
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..183
                     /product="GTPase RhebL1 isoform X3"
                     /calculated_mol_wt=21040
     Region          <65..183
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            119..122
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206648"
     Site            149..151
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206648"
     CDS             1..183
                     /gene="RHEBL1"
                     /gene_synonym="RHEBL1c"
                     /coded_by="XM_047428286.1:195..746"
                     /db_xref="GeneID:121268"
                     /db_xref="HGNC:HGNC:21166"
                     /db_xref="MIM:618956"
ORIGIN      
        1 mplvryrkvv ilgyrcvvrk drgcecgwmi wiqlshcspq grhlwhinlw kassrkatil
       61 qwrideysil pysfiigvhg yvlvysvtsl hsfqviesly qklheghgkt rvpvvlvgnk
      121 adlsperevq avegkklaes wgatfmessa renqltqgif tkviqeiarv ensygqerrc
      181 hlm
//
LOCUS       XP_016874938             426 aa            linear   PRI 20-MAR-2023
DEFINITION  periphilin-1 isoform X15 [Homo sapiens].
ACCESSION   XP_016874938
VERSION     XP_016874938.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019449.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..426
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..426
                     /product="periphilin-1 isoform X15"
                     /calculated_mol_wt=48524
     Region          211..>267
                     /region_name="periphilin-like"
                     /note="Vertebrate periphilin-1 and similar proteins;
                     cd22896"
                     /db_xref="CDD:439377"
     Region          <366..>401
                     /region_name="HERV-K_REC"
                     /note="Rec (regulator of expression encoded by corf) of
                     HERV-K-113; pfam15695"
                     /db_xref="CDD:292323"
     CDS             1..426
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /coded_by="XM_017019449.2:84..1364"
                     /db_xref="GeneID:51535"
                     /db_xref="HGNC:HGNC:19369"
                     /db_xref="MIM:608150"
ORIGIN      
        1 mwsegryeye riprerappr shpsdesgyr wtrddhsasr qpeyrdmrdg frrksfyssh
       61 yarerspykr dntffrespv grkdsphsrs gssvssrsys persksysfh qsqhrnkerp
      121 vqslktsrdt spssgsavss skvldkpsrl tekelaeaas kwaaekleks desnlpeise
      181 yeagstaplf tdqpeepesn tthgielfed sqlttrskai asktkeieqv yrqdcetfgm
      241 vvkmliekdp sleksiqfal rqnlheiesa gqtwqqvppv rntemdhdgt penegeetaq
      301 salfgfqhda snhtivglgp nqvpemkett lqapqppqap qplqprkkrv rrttqlrrtt
      361 gapditwgml kkttqeaeri llrtqtpftp enlflamlsv vhcnsrkvlv lfilslcllp
      421 vptipy
//
LOCUS       XP_047289260             525 aa            linear   PRI 20-MAR-2023
DEFINITION  protein regulator of cytokinesis 1 isoform X19 [Homo sapiens].
ACCESSION   XP_047289260
VERSION     XP_047289260.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433304.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..525
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..525
                     /product="protein regulator of cytokinesis 1 isoform X19"
                     /calculated_mol_wt=61595
     Region          16..477
                     /region_name="MAP65_ASE1"
                     /note="Microtubule associated protein (MAP65/ASE1 family);
                     pfam03999"
                     /db_xref="CDD:427641"
     CDS             1..525
                     /gene="PRC1"
                     /gene_synonym="ASE1"
                     /coded_by="XM_047433304.1:119..1696"
                     /db_xref="GeneID:9055"
                     /db_xref="HGNC:HGNC:9341"
                     /db_xref="MIM:603484"
ORIGIN      
        1 mrrsevlaee sivclqkaln hlreiwelig ipedqrlqrt evvkkhikel ldmmiaeees
       61 lkerliksis vcqkelntlc selhvepfqe egettilqle kdlrtqvelm rkqkkerkqe
      121 lkllqeqdqe lceilcmphy didsasvpsl eelnqfrqhv ttlretkasr reefvsikrq
      181 iilcmealdh tpdtsferdv vcededafcl sleniatlqk llrqlemqks qneavceglr
      241 tqirelwdrl qipeeereav atimsgskak vrkalqlevd rleelkmqnm kkvieairve
      301 lvqywdqcfy sqeqrqafap fcaedytesl lqlhdaeivr lknyyevhke lfegvqkwee
      361 twrlflefer kasdpnrftn rggnllkeek qraklqkmlp kleeelkari elweqehska
      421 fmvngqkfme yvaeqwemhr lekerakqer qlknkkqtet emlygsaprt pskrrglapn
      481 tpgkarkpva astcsgkktp rtgrhganke nlelngsils gqpss
//
LOCUS       XP_047291208             805 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane channel-like protein 6 isoform X1 [Homo sapiens].
ACCESSION   XP_047291208
VERSION     XP_047291208.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435252.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..805
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..805
                     /product="transmembrane channel-like protein 6 isoform X1"
                     /calculated_mol_wt=89915
     Region          540..646
                     /region_name="TMC"
                     /note="TMC domain; pfam07810"
                     /db_xref="CDD:429672"
     CDS             1..805
                     /gene="TMC6"
                     /gene_synonym="EV1; EVER1; EVIN1; LAK-4P; lnc; TNRC6C-AS1"
                     /coded_by="XM_047435252.1:279..2696"
                     /db_xref="GeneID:11322"
                     /db_xref="HGNC:HGNC:18021"
                     /db_xref="MIM:605828"
ORIGIN      
        1 maqplafild vpetpgdqgq gpspydesev hdsfqqliqe qsqctaqegl elqqrerevt
       61 gssqqtlwrp egtqstatlr ilasmpsrti grsrgaiisq yynrtvqlrc rssrpllgnf
      121 vrsawpslrl ydleldptal eeeekqsllv kelqslavaq rdhmlrgmpl slaekrslre
      181 ksrtprgkwr gqpgsggvcs ccgrlryacv lalhslglal lsalqalmpw ryalkriggq
      241 fgssvlsyfl flktllafna llllllvafi mgpqvafppa lpgpapvctg lelltgagcf
      301 thtvmyyghy snatlnqpcg spldgsqctp rvgglpynmp laylstvgvs ffitcitlvy
      361 smahsfgesy rvgstsgiha itvfcswdyk vtqkrasrlq qdnirtrlke llaewqlrhs
      421 prsvcgrlrq aavlglvwll clgtalgcav avhvfsefmi qspeaagqea vllvlplvvg
      481 llnlgapylc rvlaalephd spvlevyvai crnlilklai lgtlcyhwlg rrvgvlqgqc
      541 wedfvgqely rflvmdfvlm lldtlfgelv wriisekklk rrrkpefdia rnvleliygq
      601 tltwlgvlfs pllpavqiik lllvfyvkkt sllancqapr rpwlashmst vfltllcfpa
      661 flgaavflcy avwqvkpsst cgpfrtldtm yeagrvwvrh leaagprvsw lpwvhrylme
      721 ntffvflvsa lllaviylni qvvrgqrkvi cllkeqisne gedkiflink lhsiyerker
      781 eersrvgtte eaaappallt deqda
//
LOCUS       XP_047291577            1991 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleosome-remodeling factor subunit BPTF isoform X46 [Homo
            sapiens].
ACCESSION   XP_047291577
VERSION     XP_047291577.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435621.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1991
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1991
                     /product="nucleosome-remodeling factor subunit BPTF
                     isoform X46"
                     /calculated_mol_wt=220499
     Region          <1150..1530
                     /region_name="Glutenin_hmw"
                     /note="High molecular weight glutenin subunit; pfam03157"
                     /db_xref="CDD:367362"
     Region          1575..1805
                     /region_name="TNG2"
                     /note="Chromatin remodeling protein, contains PhD zinc
                     finger [Chromatin structure and dynamics]; COG5034"
                     /db_xref="CDD:227367"
     Region          1756..1802
                     /region_name="PHD2_3_BPTF"
                     /note="PHD finger 2 and 3 found in bromodomain and PHD
                     finger-containing transcription factor (BPTF); cd15560"
                     /db_xref="CDD:277035"
     Site            order(1756,1763,1765,1768..1773,1776,1778,1788,1791,
                     1794..1795)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:277035"
     Site            order(1757,1759,1772,1775,1780,1783,1799,1802)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:277035"
     Region          1814..1860
                     /region_name="PHD2_3_BPTF"
                     /note="PHD finger 2 and 3 found in bromodomain and PHD
                     finger-containing transcription factor (BPTF); cd15560"
                     /db_xref="CDD:277035"
     Site            order(1814,1821,1823,1826..1831,1834,1836,1846,1849,
                     1852..1853)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:277035"
     Site            order(1815,1817,1830,1833,1838,1841,1857,1860)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:277035"
     Region          1876..1976
                     /region_name="Bromo_gcn5_like"
                     /note="Bromodomain; Gcn5_like subfamily. Gcn5p is a
                     histone acetyltransferase (HAT) which mediates acetylation
                     of histones at lysine residues; such acetylation is
                     generally correlated with the activation of transcription.
                     Bromodomains are 110 amino acid long...; cd05509"
                     /db_xref="CDD:99941"
     Site            order(1901,1906,1909,1948,1952,1958)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99941"
     CDS             1..1991
                     /gene="BPTF"
                     /gene_synonym="FAC1; FALZ; NEDDFL; NURF301"
                     /coded_by="XM_047435621.1:3846..9821"
                     /db_xref="GeneID:2186"
                     /db_xref="HGNC:HGNC:3581"
                     /db_xref="MIM:601819"
ORIGIN      
        1 mprrlhrmts iereekekvk kkekkqeeee tmqqatwvky tfpvkhqvwk qkgeeyrvtg
       61 yggwswiskt hvyrfvpklp gntnvnyrks legtknnmde nmdesdkrkc srspkkikie
      121 pdsekdevkg sdaakgadqn emdiskitek kdqdvkelld sdsdkpckee pmevdddmkt
      181 eshvncqess qvdvvnvseg fhlrtsykkk tksskldgll errikqftle ekqrlekikl
      241 eggikgigkt stnssknlse spvitkakeg cqsdsmrqeq spnanndqpe dliqgcsesd
      301 ssvlrmsdps httnklypkd rvlddvsirs petkcpkqns iendieekvs dlasrgqeps
      361 ksktkgndff iddsklasad digtlicknk kpliqeesdt ivsssksalh ssvpkstndr
      421 datplsramd fegklgcdse snstlenssd tvsiqdssee dmivqnsnes iseqfrtreq
      481 dvevleplkc elvsgestgn cedrlpvkgt eangkkpsqq kkleerpvnk csdqiklknt
      541 tdkknnenre sekkgqrtst fqingkdnkp kiylkgeclk eisesrvvsg nvepkvnnin
      601 kiipendiks ltvkesairp fingdvimed fnernssetk shllsssdae gnyrdsletl
      661 pstkesdstq tttpsascpe snsvnqvedm eietsevkkv tsspitseee snlsndfide
      721 nglpinknen vngeskrktv itevttmtst vatesktvik vekgdkqtvv sstencakst
      781 vttttttvtk lstpstggsv diisvkeqsk tvvtttvtds ltttggtlvt smtvskeyst
      841 rdkvklmkfs rpkktrsgta lpsyrkfvtk sskksifvlp nddlkklark ggirevpyfn
      901 ynakpaldiw pypsprptfg itwryrlqtv kslagvslml rllwaslrwd dmaakappgg
      961 gttrtetset eittteiikr rdvgpygirs eycirkiicp igvpetpket ptpqrkglrs
     1021 salrpkrpet pkqtgpviie twvaeeelel weirafaerv ekekaqaveq qakkrleqqk
     1081 ptviatstts ptssttstis paqkvmvapi sgsvttgtkm vlttkvgspa tvtfqqnknf
     1141 hqtfatwvkq gqsnsgvvqv qqkvlgiips stgtsqqtft sfqprtatvt irpntsgsgg
     1201 ttsnsqvitg pqirpgmtvi rtplqqstlg kaiirtpvmv qpgapqqvmt qiirgqpvst
     1261 avsapntvss tpgqksltsa tstsniqssa sqpprpqqgq vkltmaqltq ltqghggnqg
     1321 ltvviqgqgq ttgqlqlipq gvtvlpgpgq qlmqaampng tvqrflftpl attattastt
     1381 tttvsttaag tgeqrqskls pqmqvhqdkt lppaqsssvg paeaqpqtaq psaqpqpqtq
     1441 pqspaqpevq tqpevqtqtt vsshvpseaq pthaqsskpq vaaqsqpqsn vqgqspvrvq
     1501 spsqtrirps tpsqlspgqq sqvqtttsqp ipiqphtslq ipsqgqpqsq pqvvmkhnav
     1561 iehlkqkksm tpaereenqr mivcnqvmky ildkidkeek qaakkrkree sveqkrskqn
     1621 atklsallfk hkeqlraeil kkralldkdl qievqeelkr dlkikkekdl mqlaqatava
     1681 apcppvtpap pappapppsp ppppavqhtg llstptlpaa sqkrkreeek dssskskkkk
     1741 misttsketk kdtklycick tpydeskfyi gcdlctnwyh gecvgiteke akkmdvyicn
     1801 dckraqegss eelycicrtp ydesqfyigc drcqnwyhgr cvgilqseae lideyvcpqc
     1861 qstedamtvl tpltekdyeg lkrvlrslqa hkmawpflep vdpndapdyy gvikepmdla
     1921 tmeervqrry yekltefvad mtkifdncry ynpsdspfyq caevlesffv qklkgfkasr
     1981 shnnklqsta s
//
LOCUS       XP_047292728             238 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-CoA-binding domain-containing protein 4 isoform X23 [Homo
            sapiens].
ACCESSION   XP_047292728
VERSION     XP_047292728.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436772.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..238
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..238
                     /product="acyl-CoA-binding domain-containing protein 4
                     isoform X23"
                     /calculated_mol_wt=26882
     Region          13..97
                     /region_name="ACBP"
                     /note="Acyl CoA binding protein (ACBP) binds thiol esters
                     of long fatty acids and coenzyme A in a one-to-one binding
                     mode with high specificity and affinity. Acyl-CoAs are
                     important intermediates in fatty lipid synthesis and fatty
                     acid degradation and play a...; cd00435"
                     /db_xref="CDD:238248"
     Site            order(20,23..24,26,33..34,36,39..40,42..43,46..47,64..65,
                     68..69,88)
                     /site_type="other"
                     /note="acyl-CoA binding pocket [chemical binding]"
                     /db_xref="CDD:238248"
     Site            order(24,43,46..47,69,88)
                     /site_type="other"
                     /note="CoA binding site [chemical binding]"
                     /db_xref="CDD:238248"
     CDS             1..238
                     /gene="ACBD4"
                     /gene_synonym="HMFT0700"
                     /coded_by="XM_047436772.1:447..1163"
                     /db_xref="GeneID:79777"
                     /db_xref="HGNC:HGNC:23337"
                     /db_xref="MIM:619968"
ORIGIN      
        1 mgtekespep dcqkqfqaav sviqnlpkng syrpsyeeml rfysyykqat mgpclvprpg
       61 fwdpigrykw dawnslgkms reeamsayit emklvaqkvi dtvplgevae dmfgyfeply
      121 qvipdmprpp etflrrvtgw keqvvngdvg avseppclpk epappspesh sprdldsevf
      181 cdsleqlepe lvwteqraas ggkrdprnsp vpptkkaaqp qevihilwtp pfgnlrrq
//
LOCUS       XP_016880789             211 aa            linear   PRI 20-MAR-2023
DEFINITION  ras-like protein family member 10B isoform X2 [Homo sapiens].
ACCESSION   XP_016880789
VERSION     XP_016880789.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017025300.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..211
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..211
                     /product="ras-like protein family member 10B isoform X2"
                     /calculated_mol_wt=23545
     Region          64..>206
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            70..77
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206648"
     Site            95
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206648"
     Site            99..101
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206648"
     Site            118..121
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206648"
     Site            order(120..121,145..146)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206648"
     Site            187..190
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206648"
     CDS             1..211
                     /gene="RASL10B"
                     /gene_synonym="RRP17; VTS58635"
                     /coded_by="XM_017025300.2:1756..2391"
                     /db_xref="GeneID:91608"
                     /db_xref="HGNC:HGNC:30295"
                     /db_xref="MIM:612128"
ORIGIN      
        1 mcrsmapvek srwrpqraqg kqrqqwlvlt vaeppapgic spgepqtaar trwrsgaggm
       61 vstyrvavlg argvgksaiv rqflynefse vcvpttarrl ylpavvmngh vhdlqildfp
      121 pisafpvntl qewadtccrg lrsvhayilv ydiccfdsfe yvktirqqil etrvigtset
      181 piiivgnkrd lqrgrviprw nvshlilaas l
//
LOCUS       XP_024306823             454 aa            linear   PRI 20-MAR-2023
DEFINITION  basic proline-rich protein-like [Homo sapiens].
ACCESSION   XP_024306823
VERSION     XP_024306823.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024451055.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 33% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..454
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..454
                     /product="basic proline-rich protein-like"
                     /calculated_mol_wt=47990
     Region          <25..454
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..454
                     /gene="LOC112268186"
                     /coded_by="XM_024451055.2:6984..8348"
                     /db_xref="GeneID:112268186"
ORIGIN      
        1 mgegkepaqa trpprtplrp pgllgprsgh passdpaqat rpprtpqntp kahgrlltvr
       61 tgwesfgeqs pvlpalrprq gapppgriqs elqkrqafpn whplraqgeg gegslveaag
      121 tlwagvypaf ggspnpaerh vcserllhts rdfirslprv rsgsagnken artwrrsegg
      181 lagpplakap rshsppgcsp hgqslpprrr tppsqltgsa rsrrpgspfr alrpsstara
      241 rvlspatahq rdpaagpgsg asfcvrvprf paelrrrtrs prgrrggggr rpgrspgagg
      301 vqgggaggip apraprppps gapspthvep prprrpaptr egtrasphtr asrsrarnta
      361 plpqrraprl ssarlppdpr arptrpqprp italrgcslc lsprrrpmes rggagglang
      421 rprgrgwreg lraagfyalr petaspagap rsps
//
LOCUS       XP_011524101             810 aa            linear   PRI 20-MAR-2023
DEFINITION  N-acetyltransferase ESCO1 isoform X2 [Homo sapiens].
ACCESSION   XP_011524101
VERSION     XP_011524101.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011525799.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..810
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..810
                     /product="N-acetyltransferase ESCO1 isoform X2"
                     /calculated_mol_wt=91312
     Region          <5..>350
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          604..643
                     /region_name="zf-C2H2_3"
                     /note="zinc-finger of acetyl-transferase ESCO; pfam13878"
                     /db_xref="CDD:433549"
     Region          733..801
                     /region_name="Acetyltransf_13"
                     /note="ESCO1/2 acetyl-transferase; pfam13880"
                     /db_xref="CDD:433551"
     CDS             1..810
                     /gene="ESCO1"
                     /gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
                     /coded_by="XM_011525799.4:907..3339"
                     /db_xref="GeneID:114799"
                     /db_xref="HGNC:HGNC:24645"
                     /db_xref="MIM:609674"
ORIGIN      
        1 mmsiqekske nsskvtkksd dknseteiqd sqknlakksg pketiksqak ssseskinqp
       61 eletrmstrs skaasndkat ksinkntvtv rgysqestkk klsqkklvhe npkaneqlnr
      121 rsqrlqqlte vsrrslrsre iqgqvqavkq slpptkkeqc sstqsksnkt sqkhvkrkvl
      181 evksdskede nlvinevins pkgkkrkveh qtacacssqc tqgsekcpqk ttrrdetkpv
      241 pvtsevkrsk matsvvpkkn emkksvhtqv ntnttlpksp qpsvpeqsdn eleqagkskr
      301 gsilqlceei ageiesdnve vkkessqmes vkeekpteik leetsverqi lhqketnqdv
      361 qcnrffpsrk tkpvkcilng inssakknsn wtkiklskfn svqhnkldsq vspklgllrt
      421 sfsppalemh hpvtqstflg tklhdrnitc qqekmkeins eevkinditv einktterap
      481 enchlaneik psdppldnqm khsfdsasnk nfsqcleskl enspvenvta astllsqaki
      541 dtgenkfpgs apqqhsilsn qtskssdnre tprnhslpkc nshleitipk dlklkeaekt
      601 dekqliidag qkrfgavscn vcgmlytasn pedetqhllf hnqfisavky vvdeiremvd
      661 ndlgfqqapl mcysrtktll fisndkkvvg cliaehiqwg yrvieeklpv irseeekvrf
      721 erqkawccst lpepaicgis riwvfsmmrr kkiasrmiec lrsnfiygsy lskeeiafsd
      781 ptpdgklfat qycgtgqflv ynfingqnst
//
LOCUS       XP_011524273             973 aa            linear   PRI 20-MAR-2023
DEFINITION  probable phospholipid-transporting ATPase IIB isoform X28 [Homo
            sapiens].
ACCESSION   XP_011524273
VERSION     XP_011524273.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011525971.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Jun 6, 2016 this sequence version replaced XP_011524273.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..973
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..973
                     /product="probable phospholipid-transporting ATPase IIB
                     isoform X28"
                     /calculated_mol_wt=108363
     Region          59..882
                     /region_name="HAD_like"
                     /note="Haloacid Dehalogenase-like Hydrolases; cl21460"
                     /db_xref="CDD:451251"
     Site            order(268..272,592..593,680,699..700,703..704)
                     /site_type="active"
                     /db_xref="CDD:319763"
     Region          378..460
                     /region_name="Cation_ATPase"
                     /note="Cation transport ATPase (P-type); pfam13246"
                     /db_xref="CDD:433060"
     CDS             1..973
                     /gene="ATP9B"
                     /gene_synonym="ATPASEP; ATPIIB; hMMR1; HUSSY-20; NEO1L"
                     /coded_by="XM_011525971.3:11880..14801"
                     /db_xref="GeneID:374868"
                     /db_xref="HGNC:HGNC:13541"
                     /db_xref="MIM:614446"
ORIGIN      
        1 mnlegrkrml igpwaamggp rkstirlavw ssmksslpav dltgnwqpgp easgcswleg
       61 scfirtdqld getdwklkva vsctqqlpal gdlfsisayv yaqkpqmdih sfegtftred
      121 sdppihesls ientlwasti vasgtvigvv iytgketrsv mntsnpknkv glldlelnrl
      181 tkalflalva lsivmvtlqg fvgpwyrnlf rflllfsyii pislrvnldm gkavygwmmm
      241 kdenipgtvv rtstipeelg rlvylltdkt gtltqnemif krlhlgtvsy gadtmdeiqs
      301 hvrdsysqmq sqaggnntgs tplrkaqssa pkvrksvssr iheavkaivl chnvtpvyes
      361 ragvteetef aeadqdfsde nrtyqasspd evalvqwtes vgltlvsrdl tsmqlktpsg
      421 qvlsfcilql fpftseskrm gvivrdesta eitfymkgad vamspivqyn dwleeecgnm
      481 areglrtlvv akkalteeqy qdfepmqsss vesthstytc ahrrlplcpq srytqaklsm
      541 hdrslkvaav vesleremel lcltgvedql qadvrptlem lrnagikiwm ltgdkletat
      601 ciaksshlvs rtqdihifrq vtsrgeahle lnafrrkhdc alvisgdsle vclkyyehef
      661 velacqcpav vccrcsptqk arivtllqqh tgrrtcaigd ggndvsmiqa adcgigiegk
      721 egkqaslaad fsitqfrhig rllmvhgrns ykrsaalgqf vmhrgliist mqavfssvfy
      781 fasvplyqgf lmvgyatiyt mfpvfslvld qdvkpemaml ypelykdltk grslsfktfl
      841 iwvlisiyqg gilmygalvl fesefvhvva isftalilte llmvaltvrt whwlmvvaef
      901 lslgcyvssl aflneyfgig rvsfgafldv afittvtflw kvsaitvvsc lplyvlkylr
      961 rklsppsyck las
//
LOCUS       XP_047293712             277 aa            linear   PRI 20-MAR-2023
DEFINITION  metallophosphoesterase 1 isoform X10 [Homo sapiens].
ACCESSION   XP_047293712
VERSION     XP_047293712.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437756.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..277
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..277
                     /product="metallophosphoesterase 1 isoform X10"
                     /calculated_mol_wt=31931
     Region          73..266
                     /region_name="MPP_MPPE1"
                     /note="human MPPE1 and related proteins,
                     metallophosphatase domain; cd08165"
                     /db_xref="CDD:277372"
     Site            order(77,79,119,157..158,196,240,242)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:277372"
     Site            order(77,79,119,157,196,240,242)
                     /site_type="other"
                     /note="putative metal binding site [ion binding]"
                     /db_xref="CDD:277372"
     CDS             1..277
                     /gene="MPPE1"
                     /gene_synonym="Cdc1; PGAP5"
                     /coded_by="XM_047437756.1:533..1366"
                     /db_xref="GeneID:65258"
                     /db_xref="HGNC:HGNC:15988"
                     /db_xref="MIM:611900"
ORIGIN      
        1 mamielgfgr qnfhplkrks slllkliavv favllfcefl iyylaifqcn wpevkttasd
       61 geqttrepvl kamfladthl lgeflghwld klrrewqmer afqtalwllq pevvfilgdi
      121 fdegkwstpe awaddverfq kmfrhpshvq lkvvagnhdi gfhyemntyk verfekvfss
      181 erlfswkgin fvmvnsvaln gdgcgicset eaelievshr lncsrellww lqprlvlsgh
      241 thsacevhhg grvpelsvps fswrnrnnps fimgtda
//
LOCUS       XP_016881832             434 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 565 isoform X2 [Homo sapiens].
ACCESSION   XP_016881832
VERSION     XP_016881832.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017026343.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..434
                     /product="zinc finger protein 565 isoform X2"
                     /calculated_mol_wt=50322
     Region          103..433
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          104..124
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(104,107,120,124)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(109,111,113,115..116,119..120,123,137,139,143..144,
                     147..148,151,165,167,169,171..172,175..176,179)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          132..152
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          160..180
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          188..208
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(188,191,204,208)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          216..236
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          244..264
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(244,247,260,264)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(249,251,253,255..256,259..260,263,277,279,283..284,
                     287..288,291,305,307,309,311..312,315..316,319)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          272..292
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          300..320
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          328..348
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          356..376
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          384..404
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          412..432
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..434
                     /gene="ZNF565"
                     /coded_by="XM_017026343.2:384..1688"
                     /db_xref="GeneID:147929"
                     /db_xref="HGNC:HGNC:26726"
                     /db_xref="MIM:614275"
ORIGIN      
        1 miandvtgpw cpdlesrcek flqkdifeig afnweimesl kcsdlegsdf radwecegqf
       61 erqvneecyf kqvnvtyghm pvfqhhtsht vrqsretgek lmechecgka fsrgshliqh
      121 qkihtgekpf gckecgkafs rashlvqhqr ihtgekpydc kdcgkafgrt selilhqrlh
      181 tgvkpyecke cgktfrqhsq lilhqrthtg ekpyvckdcg kafirgsqlt vhrrihtgar
      241 pyeckecgka frqhsqltvh qrihtgekpy eckecgkgfi hssevtrhqr ihsgekpyec
      301 kecgkafrqh aqltrhqrvh tgdrpyeckd cgkafsrssy liqhqrihtg dkpyeckecg
      361 kafirvsqlt hhqrihtcek pyecrecgma firssqlteh qrihpgikpy ecrecgqafi
      421 lgsqliehyr ihtg
//
LOCUS       XP_047294288             628 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 567 isoform X5 [Homo sapiens].
ACCESSION   XP_047294288
VERSION     XP_047294288.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438332.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..628
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..628
                     /product="zinc finger protein 567 isoform X5"
                     /calculated_mol_wt=72332
     Region          11..71
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          218..237
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          260..280
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          284..616
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          288..308
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          316..336
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          344..364
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          372..392
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(377,379,381,383..384,387..388,391,405,407,411..412,
                     415..416,419,433,435,437,439..440,443..444,447)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          400..420
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(400,403,416,420)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          428..448
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          456..476
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          484..504
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          512..532
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(512,515,528,532)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          540..560
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(545,547,549,551..552,555..556,559,573,575,579..580,
                     583..584,587,601,603,605,607..608,611..612,615)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          568..588
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(568,571,584,588)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          596..616
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..628
                     /gene="ZNF567"
                     /coded_by="XM_047438332.1:1196..3082"
                     /db_xref="GeneID:163081"
                     /db_xref="HGNC:HGNC:28696"
ORIGIN      
        1 mgsspsakgs vsfndvtvdf tqeewqhldh aqktlymdvm lenychlisv gchmtkpdvi
       61 lklergeepw tsfaghtcle enwkaedflv kfkehqekys rsvvsinhkk lvkekskiye
      121 ktftlgknpv nsknlppeyd thgrilknvs eliisnlnpa rkrlseyngy gksllstkqe
      181 tthpevkshn qsarafshne vlmqyqktet paqsfgyndc eksflqrggl ithsrpykge
      241 npsvynkkrr atniekkhtc necgksfcrk svlilhqgih seekpyqchq cgnafrrksy
      301 lidhqrthtg ekpfvcnecg ksfrlktalt dhqrthtgek syeclqcrna frlkshlirh
      361 qrthtgekpy ecndcgksfr qkttlslhqr ihtgekpyic kecgksfhqk anltvhqrth
      421 tgekpyicne cgksfsqktt lalhekthne ekpyicsecg ksfrqkttlv ahqrthtgek
      481 syecphcgka frmksylidh hrthtgekpy ecnecgksfs qktnlnlhqr ihtgekpyvc
      541 necgksfrqk atltvhqkih tgqksyecpq cgkafsrksy lihhqrthtg ekpykcsecg
      601 kcfrqktnli vhqrthtgge dgltgcls
//
LOCUS       XP_016882383             602 aa            linear   PRI 20-MAR-2023
DEFINITION  POU domain, class 2, transcription factor 2 isoform X12 [Homo
            sapiens].
ACCESSION   XP_016882383
VERSION     XP_016882383.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017026894.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..602
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..602
                     /product="POU domain, class 2, transcription factor 2
                     isoform X12"
                     /calculated_mol_wt=62053
     Region          <116..>193
                     /region_name="PAT1"
                     /note="Topoisomerase II-associated protein PAT1;
                     pfam09770"
                     /db_xref="CDD:401645"
     Region          195..269
                     /region_name="POU"
                     /note="Found in Pit-Oct-Unc transcription factors;
                     smart00352"
                     /db_xref="CDD:197673"
     Site            order(298..302,304,321,327,340,342..343,346..347,349..351,
                     353..354)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          300..353
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     Site            order(300,303,343,346..347,350)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          <472..548
                     /region_name="POU2F1_C"
                     /note="POU domain, class 2, transcription factor 1
                     C-terminal; pfam19536"
                     /db_xref="CDD:437368"
     CDS             1..602
                     /gene="POU2F2"
                     /gene_synonym="Oct-2; OCT2; OTF2"
                     /coded_by="XM_017026894.3:36..1844"
                     /db_xref="GeneID:5452"
                     /db_xref="HGNC:HGNC:9213"
                     /db_xref="MIM:164176"
ORIGIN      
        1 mvhssmgape irmskpleae kqgldspseh tdterngpdt nhqnpqnkts pfsvsptgps
       61 tkikaedpsg dsapaaplpp qpaqphlpqa qlmltgsqla gdiqqllqlq qlvlvpghhl
      121 qppaqfllpq aqqsqpgllp tpnlfqlpqq tqgalltsqp raglptqavt rptlpdphls
      181 hpqppkclep pshpeepsdl eeleqfartf kqrriklgft qgdvglamgk lygndfsqtt
      241 isrfealnls fknmcklkpl lekwlndaet msvdsslpsp nqlsspslgf dglpgrrrkk
      301 rtsietnvrf aleksflanq kptseeilli aeqlhmekev irvwfcnrrq kekrinpcsa
      361 apmlpspgkp asysphmvtp qggagtlpls qassslsttv ttlssavgtl hpsrtagggg
      421 ggggaappln sipsvtpppp attnstnpsp qgshsaigls glnpstgstm vglssglspa
      481 lmsnnplati qalasggtlp ltsldgsgnl vlgaagaapg spglvtsplf lnhaglplls
      541 tppgvglvsa aaaavaasis skspglssss ssssssssst csetaaqtpg gpggpeagsk
      601 pe
//
LOCUS       XP_011509030             152 aa            linear   PRI 20-MAR-2023
DEFINITION  protein N-lysine methyltransferase METTL21A isoform X5 [Homo
            sapiens].
ACCESSION   XP_011509030
VERSION     XP_011509030.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011510728.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..152
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..152
                     /product="protein N-lysine methyltransferase METTL21A
                     isoform X5"
                     /calculated_mol_wt=16622
     Region          50..>112
                     /region_name="AdoMet_MTases"
                     /note="S-adenosylmethionine-dependent methyltransferases
                     (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes
                     that use S-adenosyl-L-methionine (SAM or AdoMet) as a
                     substrate for methyltransfer, creating the product
                     S-adenosyl-L-homocysteine (AdoHcy); cl17173"
                     /db_xref="CDD:450167"
     CDS             1..152
                     /gene="METTL21A"
                     /gene_synonym="FAM119A; HCA557b; HSPA-KMT"
                     /coded_by="XM_011510728.4:46..504"
                     /db_xref="GeneID:151194"
                     /db_xref="HGNC:HGNC:30476"
                     /db_xref="MIM:615257"
ORIGIN      
        1 myfwfikplt pslraglsrg rgaggmalvp yeettefglq kfhkplatfs fanhtiqirq
       61 dwrhlgvaav vwdaaivlst ylemgavelr grsavelgag tglvgivaal lentgqmqte
      121 gyskrkqitt lqklqghqrq gnklsqtegd yn
//
LOCUS       XP_005264232             912 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA (cytosine-5)-methyltransferase 3A isoform X1 [Homo sapiens].
ACCESSION   XP_005264232
VERSION     XP_005264232.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005264175.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..912
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..912
                     /product="DNA (cytosine-5)-methyltransferase 3A isoform
                     X1"
                     /calculated_mol_wt=101728
     Region          15..>188
                     /region_name="PHA03169"
                     /note="hypothetical protein; Provisional"
                     /db_xref="CDD:223003"
     Region          285..418
                     /region_name="PWWP_DNMT3A"
                     /note="PWWP domain found in DNA
                     (cytosine-5)-methyltransferase 3A (DNMT3A); cd20154"
                     /db_xref="CDD:438982"
     Site            order(301,303,306,318,330,333,335..337)
                     /site_type="other"
                     /note="putative methyl-histone binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438982"
     Site            304..307
                     /site_type="other"
                     /note="PWWP sequence motif"
                     /db_xref="CDD:438982"
     Region          487..614
                     /region_name="ADDz_Dnmt3a"
                     /note="ADDz domain found in DNA (cytosine-5)
                     methyltransferases (C5-MTases) 3a (Dnmt3a); cd11729"
                     /db_xref="CDD:277255"
     Site            order(529,531,533..536,541..548,575..576,578,581)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:277255"
     Region          632..>795
                     /region_name="Dcm"
                     /note="Site-specific DNA-cytosine methylase [Replication,
                     recombination and repair]; COG0270"
                     /db_xref="CDD:223348"
     CDS             1..912
                     /gene="DNMT3A"
                     /gene_synonym="DNMT3A2; HESJAS; M.HsaIIIA; TBRS"
                     /coded_by="XM_005264175.6:2536..5274"
                     /db_xref="GeneID:1788"
                     /db_xref="HGNC:HGNC:2978"
                     /db_xref="MIM:602769"
ORIGIN      
        1 mpampssgpg dtsssaaere edrkdgeeqe eprgkeerqe psttarkvgr pgrkrkhppv
       61 esgdtpkdpa viskspsmaq dsgasellpn gdlekrsepq peegspaggq kggapaegeg
      121 aaetlpeasr avengcctpk egrgapaeag keqketnies mkmegsrgrl rgglgwessl
      181 rqrpmprltf qagdpyyisk rkrdewlarw kreaekkakv iagmnaveen qgpgesqkve
      241 easppavqqp tdpasptvat tpepvgsdag dknatkagdd epeyedgrgf gigelvwgkl
      301 rgfswwpgri vswwmtgrsr aaegtrwvmw fgdgkfsvvc veklmplssf csafhqatyn
      361 kqpmyrkaiy evlqvassra gklfpvchds desdtakave vqnkpmiewa lggfqpsgpk
      421 gleppeeekn pykevytdmw vepeaaayap pppakkprks taekpkvkei idertrerlv
      481 yevrqkcrni ediciscgsl nvtlehplfv ggmcqncknc flecayqydd dgyqsyctic
      541 cggrevlmcg nnnccrcfcv ecvdllvgpg aaqaaikedp wncymcghkg tygllrrred
      601 wpsrlqmffa nnhdqefdpp kvyppvpaek rkpirvlslf dgiatgllvl kdlgiqvdry
      661 iasevcedsi tvgmvrhqgk imyvgdvrsv tqkhiqewgp fdlviggspc ndlsivnpar
      721 kglyegtgrl ffefyrllhd arpkegddrp ffwlfenvva mgvsdkrdis rflesnpvmi
      781 dakevsaahr aryfwgnlpg mnrplastvn dklelqecle hgriakfskv rtittrsnsi
      841 kqgkdqhfpv fmnekedilw ctemervfgf pvhytdvsnm srlarqrllg rswsvpvirh
      901 lfaplkeyfa cv
//
LOCUS       XP_016859867            1982 aa            linear   PRI 20-MAR-2023
DEFINITION  HEAT repeat-containing protein 5B isoform X4 [Homo sapiens].
ACCESSION   XP_016859867
VERSION     XP_016859867.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004378.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1982
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1982
                     /product="HEAT repeat-containing protein 5B isoform X4"
                     /calculated_mol_wt=214864
     Region          97..121
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(113..114,117,120..121,154..155,158,161..162,165,
                     195..196,199,202..203,206,236..237,240,243..244)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          137..165
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          177..207
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          218..244
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(831..832,835,838..839,842,870..871,874,877..878,881,
                     909..910,917,920..921,953..954,957,960..961)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          852..882
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          891..921
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          932..962
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     CDS             1..1982
                     /gene="HEATR5B"
                     /gene_synonym="p200; p200a"
                     /coded_by="XM_017004378.2:127..6075"
                     /db_xref="GeneID:54497"
                     /db_xref="HGNC:HGNC:29273"
                     /db_xref="MIM:619627"
ORIGIN      
        1 melahsllln eealaqitea krpvfifewl rfldkvlvaa nktdvkekqk klveqltgli
       61 ssspgpptrk llaknlaaly sigdtftvfq tldkcndiir nkddtaaylp tklaavacvg
      121 afyekmgrml gsafpetvnn llkslksaes qgrseilmsl qkvlsglgga aasshrdiyk
      181 narslltdrs mavrcavakc llelqneavf mwtaelenia tlcfkalens nygvrvavsk
      241 llgtvmatal mpkqatvmrq nvkratfdev lelmatgflr ggsgflksgg emlkvggsvn
      301 revrvgvtqa yvvfvttlgg qwlersfatf lshvldlvsh pratqthvea vysrrcvsfi
      361 lratvgsllg ekaqiaaake icqaigkqmk aveavvndts genksgaadi aasqhvmvca
      421 lqelgslvqs lnataspliq easiglleiv tsvllhpsma arlaaawclr cvavalpfql
      481 tpfldrcaer lnnlktspea vsgysfamaa llggvhqcpl giphakgkmv vsiaedllrt
      541 aaqnsrlslq rtqagwlllg almtlgpsvv ryhlpkmlll wrnvfprslk eleaekargd
      601 sftwqvtleg ragalcamrs fvahcpellt edvirklmtp iecamtmmsh ipsvmkahga
      661 hlkasaamvr lrlydilall ppktyegsfn allrelvaef tltdnsantt tsllrslchy
      721 ddsvllgswl qetdhksied qlqpnsasgs galehdpssi ylripageav pgplplgvsv
      781 idasvalfgv vfphvsykhr lqmldhfaec vkqakgvrqq avqlniftav lsalkglaen
      841 kstlgpeevr ksaltlvmgp ldnpnpilrc aagealgrma qvvgeatfia rmaqysfdkl
      901 ksardvvsrt ghslalgclh ryvggigsgq hlktsvsill alaqdgtspe vqtwslhsla
      961 livdssgpmy rgyveptlsl vltllltvpp shtevhqclg rclgaiittv gpelqgngat
     1021 tstirssclv gcaitqdhsd slvqaaaisc lqqlhmfapr hvnlsslvps lcvhlcsshl
     1081 llrraavacl rqlaqreaae vceyamslak ntgdkesssa nvspfapgvs srtdihcrhq
     1141 gvnitetgle gllfgmldre tdrklcsdih dtlghmlssl aveklshwlm lckdvlaass
     1201 dmstatllss gkdeeaekkd emdddtmftt lgeedkskpf vaprwatrvf aadclcriin
     1261 lcenadqahf dlalarsakl rnptndllvl hlsdlirmaf maatdhsnql rmaglqaled
     1321 iikkfasvpe pefpghvile qyqanvgaal rpafsqdtps diiakacqvc stwigsgvvs
     1381 dlndlrrvhn llvssldkvq agkgsssqly resattmekl avlkawaevy vvamnikkea
     1441 eskpkraikn tddddddcgt idelppdsli tlvqpelptl srlwlaalkd yalltlpaef
     1501 ssqlppdgga fytpetidta rlhyrnswap ilhavalwln stgftcsest eaaaisglqk
     1561 rstsvnlnqa sgavgsaksl peinkdrmhl ilgvsiqflc sprpeepieh vtaclqalht
     1621 lldspyarvh iaedqligve llsvlhrlll twnpssvqll vtgvvqqivr aaqdylqekr
     1681 ntlrcmtilp tilfliaril kdtaiksadn qvpppvsaal qgiksivtls makteagvqk
     1741 qwtalirstl acileysqpe dsvptpdevs mltaialflw sasneiigvq slqngcmnrf
     1801 knalnscdpw vqakcyqlll svfqhsnral stpyihslap ivveklkave rnrpasniel
     1861 lavqegikvl etlvalgeeq nrvqllallv ptlisyllde nsfasassas kdlhefalqn
     1921 lmhigplyph afktvmgaap elkvrletav rasqaskaka aarqpapaih saptiklkts
     1981 ff
//
LOCUS       XP_047301069             338 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 15 isoform X9 [Homo sapiens].
ACCESSION   XP_047301069
VERSION     XP_047301069.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445113.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..338
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..338
                     /product="rho GTPase-activating protein 15 isoform X9"
                     /calculated_mol_wt=38746
     Region          81..190
                     /region_name="PH_ARHGAP9-like"
                     /note="Beta-spectrin pleckstrin homology (PH) domain;
                     cd13233"
                     /db_xref="CDD:270053"
     Site            order(89,100..102,150..152)
                     /site_type="other"
                     /note="non-cannonial phosphoinositide binding site
                     [chemical binding]"
                     /db_xref="CDD:270053"
     Region          279..>334
                     /region_name="RhoGAP"
                     /note="GTPase-activator protein (GAP) for Rho-like
                     GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases.
                     Small GTPases (G proteins) cluster into distinct families,
                     and all act as molecular switches, active in their
                     GTP-bound form but inactive when bound to...; cl02570"
                     /db_xref="CDD:445838"
     Site            317
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:238090"
     CDS             1..338
                     /gene="ARHGAP15"
                     /gene_synonym="BM046"
                     /coded_by="XM_047445113.1:14..1030"
                     /db_xref="GeneID:55843"
                     /db_xref="HGNC:HGNC:21030"
                     /db_xref="MIM:610578"
ORIGIN      
        1 mqkstnsdts vetlnstrqg tgavqmrikn anshhdrlsq sksmiltdvg kvtepisrhr
       61 rnhsqhilkd vippleqlmv ekegylqkak iadggkklrk nwstswivls srriefykes
      121 kqqalsnmkt ghkpesvdlc gahiewakek ssrknvfqit tvsgnefllq sdidfiildw
      181 fhaiknaidr lpkdsscpsr nlelfkiqrs sstellshyd sdikeqkpeh rkslmfrlhh
      241 sasdtsdknr vksrlkkfit rrpslktlqe kglikdqifg shlhkvcere nstvpwfvkq
      301 cieavekrgl dvdgiyrvsg nlatiqklrf ivnqvsqh
//
LOCUS       XP_047302213             226 aa            linear   PRI 20-MAR-2023
DEFINITION  V-type proton ATPase subunit E 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047302213
VERSION     XP_047302213.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446257.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..226
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..226
                     /product="V-type proton ATPase subunit E 2 isoform X1"
                     /calculated_mol_wt=25943
     Region          18..216
                     /region_name="vATP-synt_E"
                     /note="ATP synthase (E/31 kDa) subunit; pfam01991"
                     /db_xref="CDD:396537"
     CDS             1..226
                     /gene="ATP6V1E2"
                     /gene_synonym="ATP6E1; ATP6EL2; ATP6V1EL2; VMA4"
                     /coded_by="XM_047446257.1:842..1522"
                     /db_xref="GeneID:90423"
                     /db_xref="HGNC:HGNC:18125"
                     /db_xref="MIM:617385"
ORIGIN      
        1 malsdvdvkk qikhmmafie qeanekaeei dakaeeefni ekgrlvqtqr lkimeyyekk
       61 ekqieqqkki lmstmrnqar lkvlrarndl isdllseakl rlsrivedpe vyqglldklv
      121 lqgllrllep vmivrcrpqd lllveaavqk aipeymtisq khvevqidke aylavnaagg
      181 vevysgnqri kvsntlesrl dlsakqkmpe irmalfgant nrkffi
//
LOCUS       XP_011528478             217 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing protein 74B isoform X3 [Homo
            sapiens].
ACCESSION   XP_011528478
VERSION     XP_011528478.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011530176.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..217
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..217
                     /product="leucine-rich repeat-containing protein 74B
                     isoform X3"
                     /calculated_mol_wt=23027
     Region          <58..>205
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     CDS             1..217
                     /gene="LRRC74B"
                     /coded_by="XM_011530176.3:42..695"
                     /db_xref="GeneID:400891"
                     /db_xref="HGNC:HGNC:34301"
ORIGIN      
        1 mrgscersge deeqkeeamv acgrlsgvpe aeqgpeanwd sdletegtdg lgelvrdtly
       61 lrscrahsvv piscflrqgs aqelnlrhrg lgpqgarala sslssnpyvk rldlrdnglc
      121 gagaealaga lsksssihdv dlsenqlgva gaqalcaalt vnqamrkmql sgngleeqaa
      181 qhlaelllah tdlksldlsy nqlndqavtt aslrwep
//
LOCUS       XP_047305394             263 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124909487 [Homo sapiens].
ACCESSION   XP_047305394
VERSION     XP_047305394.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449438.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 17% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..263
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..263
                     /product="uncharacterized protein LOC124909487"
                     /calculated_mol_wt=28573
     CDS             1..263
                     /gene="LOC124909487"
                     /coded_by="XM_047449438.1:1..792"
                     /db_xref="GeneID:124909487"
ORIGIN      
        1 mpkdrhsgsa refvngiskk swnldkakvk ddntnpcksd nfkykhgsql awswpcirld
       61 apvpisrkrp gsgiteatss rrqrptrrlq gqlpgqekrv lkategianp swgwggavsp
      121 lrasltslep rglraasrgt rwpqgggwgr aparrtapsp dsapplpqsk rwrtrklprt
      181 gtdfranraa alafsggsda igscsrraem snveslkivm sslslkflnt pmegdkdsll
      241 gqtlvrllnl lvglsvhflg kss
//
LOCUS       XP_005262826             292 aa            linear   PRI 20-MAR-2023
DEFINITION  progestin and adipoQ receptor family member 3 isoform X2 [Homo
            sapiens].
ACCESSION   XP_005262826
VERSION     XP_005262826.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005262769.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..292
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..292
                     /product="progestin and adipoQ receptor family member 3
                     isoform X2"
                     /calculated_mol_wt=33442
     Region          64..264
                     /region_name="HlyIII"
                     /note="Haemolysin-III related; cl03831"
                     /db_xref="CDD:446201"
     CDS             1..292
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /coded_by="XM_005262769.6:215..1093"
                     /db_xref="GeneID:152559"
                     /db_xref="HGNC:HGNC:30130"
                     /db_xref="MIM:614577"
ORIGIN      
        1 mhqkllksah yielgsyqyw pvlvprgirl ytyeqipgsl kdnpyitdgy raylpsrlci
       61 kslfilsnet vniwshllgf flfftlgiyd mtsvlpsasa sredfvicsi clfcfqvcml
      121 csvgyhlfsc hrsektcrrw maldyagisi gilgcyvsgv fyafycnnyw rqvylitvla
      181 milavffaqi hpnyltqqwq rlrsiifcsv sgygviptlh wvwlnggiga pivqdfaprv
      241 ivmymialla flfyiskvpe ryfpesgtki qgmsvtsygi ppgqnirfed cd
//
LOCUS       XP_016863397            3544 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat and FYVE domain-containing protein 3 isoform X1 [Homo
            sapiens].
ACCESSION   XP_016863397
VERSION     XP_016863397.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017007908.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3544
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..3544
                     /product="WD repeat and FYVE domain-containing protein 3
                     isoform X1"
                     /calculated_mol_wt=397076
     Region          2552..2675
                     /region_name="PH_BEACH"
                     /note="Pleckstrin homology domain in BEACH domain
                     containing proteins; cd01201"
                     /db_xref="CDD:275391"
     Region          2713..2994
                     /region_name="Beach"
                     /note="Beige/BEACH domain; smart01026"
                     /db_xref="CDD:214982"
     Region          3102..>3264
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          3102..3143
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3149..3185
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3190..3227
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3234..3273
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3467..3531
                     /region_name="FYVE_WDFY3"
                     /note="FYVE domain found in WD40 repeat and FYVE
                     domain-containing protein 3 (WDFY3) and similar proteins;
                     cd15719"
                     /db_xref="CDD:277259"
     Site            order(3469,3472,3490..3495,3497..3498,3522..3524)
                     /site_type="other"
                     /note="putative phosphatidylinositol 3-phosphate binding
                     site [chemical binding]"
                     /db_xref="CDD:277259"
     CDS             1..3544
                     /gene="WDFY3"
                     /gene_synonym="ALFY; BCHS; MCPH18; ZFYVE25"
                     /coded_by="XM_017007908.3:854..11488"
                     /db_xref="GeneID:23001"
                     /db_xref="HGNC:HGNC:20751"
                     /db_xref="MIM:617485"
ORIGIN      
        1 mnmvkrimgr prqeecspqd nalglmhlrr lftelchppr hmtqkeqeek lymmlpvfnr
       61 vfgnappntm tekfsdllqf ttqvsrlmvt eirrrasnks tekqcallsp kdfkattpse
      121 aasraivqfl einqseeasr gwmllttinl lassgqktvd cmttmsvpst lvkclylffd
      181 lphvpeavgg aqnelplaer rgllqkvfvq ilvklcsfvs paeelaqkdd lqllfsaits
      241 wcppynlpwr ksagevlmti srhglsvnvv kyihekecls tcvqnmqqsd dlspleivem
      301 faglscflkd ssdvsqtlld dfriwqgynf lcdlllrleq akeaeskdal kdlvnlitsl
      361 ttygvselkp agittgapfl lpgfavpqpa gkghsvrnvq afavlqnafl kaktsflaqi
      421 ildaitniym adnanyfile sqhtlsqfae kisklpevqn kyfemlefvv fslnyipcke
      481 lisvsillks sssyhcsiia mktllkftrh dyifkdvfre vgllevmvnl lhkyaallkd
      541 ptqalneqgd srnnssvedq khlallvmet ltvllqgsnt nagifrefgg arcahnivky
      601 pqcrqhalmt iqqlvlspng dddmgtllgl mhsapptelq lktdilrall svlreshrsr
      661 tvfrkvggfv yitsllvame rslscppkng wekvnqnqvf ellhtvfctl taamryepan
      721 shffkteiqy ekladavrfl gcfsdlrkis amnvfpsntq pfqrlleedv isiesvsptl
      781 rhcsklfiyl ykvatdsfds raeqippclt sesslpspwg tpalsrkrha yhsvstppvy
      841 ppknvadlkl hvttsslqss daviihpgam lamldllasv gsvtqpehal dlqlavanil
      901 qslvhternq qvmceaglha rllqrcsaal adedhslhpp lqrmferlas qalepmvlre
      961 flrlasplnc gawdkkllkq yrvhkpssls yepemrssmi tsleglgtdn vfslhednhy
     1021 riskslvksa egstvpltrv kclvsmttph dirlhgssvt pafvefdtsl egfgclflps
     1081 laphnaptnn tvttglidga vvsgigsger ffpppsglsy sswfciehfs sppnnhpvrl
     1141 ltvvrranss eqhyvclaiv lsakdrsliv stkeellqny vddfseessf yeilpccarf
     1201 rcgeliiegq whhlvlvmsk gmlknstaal yidgqlvntv klhyvhstpg gsgsanppvv
     1261 stvyayigtp paqrqiaslv wrlgpthfle evlpssnvtt iyelgpnyvg sfqavcmpck
     1321 daksegvvps pvslvpeekv sfglyalsvs sltvarirkv ynkldskaia kqlgisshen
     1381 atpvklihns aghlngsart igaaligylg vrtfvpkpva ttlqyvggaa ailglvamas
     1441 dveglyaavk alvcvvksnp laskemerik gyqllamllk kkrsllnshi lhltfslvgt
     1501 vdsghetsii pnstafqdll cdfevwlhap yelhlslfeh fielltesse asknaklmre
     1561 fqlipklllt lrdmslsqpt iaaisnvlsf llqgfpssnd llrfgqfiss tlptfavcek
     1621 fvvmeinnee kldtgteeef gglvsanlil lrnrlldill kliytskekt sinlqaceel
     1681 vktlgfdwim mfmeehlhst tvtaamrilv vllsnqsili kfkeglsggg wleqtdsvlt
     1741 nkigtvlgfn vgrsaggrst vreinrdach fpgfpvlqsf lpkhtnvpal yfllmalflq
     1801 qpvselpenl qvsvpviscr skqgcqfdld siwtfifgvp assgtvvssi hnvcteavfl
     1861 llgmlrsmlt spwqseeegs wlreypvtlm qffrylyhnv pdlasmwmsp dflcalaatv
     1921 fpfnirpyse mvtdlddevg spaeefkafa adtgmnrsqs eycnvgtkty ltnhpakkfv
     1981 fdfmrvliid nlcltpaskq tplidlllea sperstrtqq kefqtyilds vmdhllaadv
     2041 llgedaslpi tsggsyqvlv nnvfyftqrv vdklwqgmfn keskllidfi iqliaqskrr
     2101 sqglsldavy hclnrtilyq fsrahktvpq qvalldslrv ltvnrnlilg pgnhdqefis
     2161 clahclinlh vgsnvdgfgl eaearmttwh imipsdiepd gsysqdiseg rqllikavnr
     2221 vwtelihskk qvleelfkvt lpvnerghvd iatarpliee aalkcwqnhl ahekkcisrg
     2281 ealapttqsk lsrvssgfgl skltgsrrnr kesglnkhsl stqeisqwmf thiavvrdlv
     2341 dtqykeyqer qqnalkyvte ewcqiecell rerglwgppi gshldkwmle mtegpcrmrk
     2401 kmvrndmfyn hypyvpeteq etnvaseips kqpetpddip qkkparyrra vsydskeyym
     2461 rlasgnpaiv qdaivesseg eaaqqepehg edtiakvkgl vkpplkrsrs apdggdeenq
     2521 eqlqdqiaeg ssieeeektd natllrllee gekiqhmyrc arvqgldtse glllfgkehf
     2581 yvidgftmta treirdietl ppnmhepiip rgarqgpsql krtcsifaye dikevhkrry
     2641 llqpiavevf sgdgrnylla fqkgirnkvy qrflavvpsl tdssesvsgq rpntsveqgs
     2701 gllstlvgek svtqrwerge isnfqylmhl ntlagrsynd lmqypvfpwi ladydseevd
     2761 ltnpktfrnl akpmgaqtde rlaqykkryk dwedpngetp ayhygthyss amivasylvr
     2821 mepftqiflr lqgghfdlad rmfhsvreaw ysaskhnmad vkelipeffy lpeflfnsnn
     2881 fdlgckqngt klgdvilppw akgdprefir vhrealecdy vsahlhewid lifgykqqgp
     2941 aaveavnvfh hlfyegqvdi ynindplket atigfinnfg qipkqlfkkp hppkrvrsrl
     3001 ngdnagisvl pgstsdkiff hhldnlrpsl tpvkelkepv gqivctdkgi laveqnkvli
     3061 pptwnktfaw gyadlscrlg tyesdkamtv yeclsewgqi lcaicpnpkl vitggtstvv
     3121 cvwemgtske kaktvtlkqa llghtdtvtc ataslayhii vsgsrdrtci iwdlnklsfl
     3181 tqlrghrapv salcineltg divscagtyi hvwsingnpi vsvntftgrs qqiicccmse
     3241 mnewdtqnvi vtghsdgvvr fwrmeflqvp etpapepaev lemqedcpea qigqeaqded
     3301 ssdseadeqs isqdpkdtps qpsstshrpr aascrataaw ctdsgsddsr rwsdqlslde
     3361 kdgfifvnys egqtrahlqg plshphpnpi evrnysrlkp gyrwerqlvf rskltmhtaf
     3421 drkdnahpae vtalgiskdh srilvgdsrg rvfswsvsdq pgrsaadhwv kdeggdscsg
     3481 csvrfslter rhhcrncgql fcqkcsrfqs eikrlkissp vrvcqncyyn lqhergsedg
     3541 prnc
//
LOCUS       XP_011511810             727 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 14 isoform X1 [Homo sapiens].
ACCESSION   XP_011511810
VERSION     XP_011511810.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011513508.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..727
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..727
                     /product="TBC1 domain family member 14 isoform X1"
                     /calculated_mol_wt=82186
     Region          404..664
                     /region_name="RabGAP-TBC"
                     /note="Rab-GTPase-TBC domain; pfam00566"
                     /db_xref="CDD:425753"
     CDS             1..727
                     /gene="TBC1D14"
                     /coded_by="XM_011513508.2:58..2241"
                     /db_xref="GeneID:57533"
                     /db_xref="HGNC:HGNC:29246"
                     /db_xref="MIM:614855"
ORIGIN      
        1 mtdgklstst ngvafmgild grpgnplqnl qhvnlkaprl lsapeygpkl klraledrhs
       61 lqsvdsgipt leignpepvp csavhvrrkq sdsdlipera fqsacalpsc appapsster
      121 eqsvrksstf prtgydsvkl ysptskaltr sddvsvcsvs slgtelsttl svsnedildl
      181 vvtssssaiv tlendddpqf tnvtlssike trglhqqdcv heaeegsklk ilgpfsnffa
      241 rnllarkqsa rldkhndlgw klfgkaplre naqkdskriq keyedkagrp skppspkqnv
      301 rknldfepls ttaliledrp anlpakpaee aqkhrqqyee mvvqakkrel keaqrrkkql
      361 eercrveesi gnavltwnne ilpnwetmwc srkvrdlwwq gippsvrgkv wslaigneln
      421 ithelfdicl arakerwrsl stggsevene dagfsaadre aslelikldi srtfpnlcif
      481 qqvlifvdfr vglqksfqkr kerestklqq lwswclggpy hdmlhsilga ytcyrpdvgy
      541 vqgmsfiaav lilnldtada fiafsnllnk pcqmaffrvd hglmltyfaa fevffeenlp
      601 klfahfkknn ltpdiylidw iftlyskslp ldlacriwdv fcrdgeeflf rtalgilklf
      661 ediltkmdfi hmaqfltrlp edlpaeelfa siatiqmqsr nkkwaqvlta lqkdsremek
      721 gspslrh
//
LOCUS       XP_016864271             218 aa            linear   PRI 20-MAR-2023
DEFINITION  3-oxoacyl-[acyl-carrier-protein] reductase isoform X2 [Homo
            sapiens].
ACCESSION   XP_016864271
VERSION     XP_016864271.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017008782.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..218
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..218
                     /product="3-oxoacyl-[acyl-carrier-protein] reductase
                     isoform X2"
                     /calculated_mol_wt=23450
     Region          5..>191
                     /region_name="SDR_c"
                     /note="classical (c) SDRs; cd05233"
                     /db_xref="CDD:212491"
     Site            order(9,11..14,33..35,55..57,83..85,106,133..134,145,158,
                     162,188..191)
                     /site_type="other"
                     /note="NAD(P) binding site [chemical binding]"
                     /db_xref="CDD:212491"
     Site            order(107,145,158,162)
                     /site_type="active"
                     /db_xref="CDD:212491"
     CDS             1..218
                     /gene="CBR4"
                     /gene_synonym="SDR45C1"
                     /coded_by="XM_017008782.2:167..823"
                     /db_xref="GeneID:84869"
                     /db_xref="HGNC:HGNC:25891"
                     /db_xref="MIM:619394"
ORIGIN      
        1 mdkvcavfgg srgigravaq lmarkgyrla viarnlegak aaagdlggdh lafscdvake
       61 hdvqntfeel ekhlgrvnfl vnaaginrdg llvrtktedm vsqlhtnllg smltckaamr
      121 tmiqqqggsi vnvghrreml lhkrsivglk gnsgqsvysa skgglvgfsr alakevarkk
      181 irvnvvapel iprtvsirkm ekgdrinvtl rspeqhgt
//
LOCUS       XP_047272302             583 aa            linear   PRI 20-MAR-2023
DEFINITION  netrin receptor UNC5C isoform X2 [Homo sapiens].
ACCESSION   XP_047272302
VERSION     XP_047272302.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416346.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..583
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..583
                     /product="netrin receptor UNC5C isoform X2"
                     /calculated_mol_wt=64179
     Region          180..283
                     /region_name="ZU5"
                     /note="Domain present in ZO-1 and Unc5-like netrin
                     receptors; smart00218"
                     /db_xref="CDD:128514"
     Region          330..469
                     /region_name="UPA"
                     /note="UPA domain; pfam17217"
                     /db_xref="CDD:435793"
     Region          496..578
                     /region_name="DD"
                     /note="Death Domain Superfamily of protein-protein
                     interaction domains; cl14633"
                     /db_xref="CDD:449339"
     CDS             1..583
                     /gene="UNC5C"
                     /gene_synonym="UNC5H3"
                     /coded_by="XM_047416346.1:6362..8113"
                     /db_xref="GeneID:8633"
                     /db_xref="HGNC:HGNC:12569"
                     /db_xref="MIM:603610"
ORIGIN      
        1 mqsfiypist eqrtqneygf ssapdsddva lyvgiviavi vclaisvvva lfvyrknhrd
       61 fesdiidssa lnggfqpvni kaarqdllav ppdltsaaam yrgpvyalhd vsdkipmtns
      121 pildplpnlk ikvyntsgav tpqddlseft sklspqmtqs llenealslk nqslarqtdp
      181 sctafgsfns lgghlivpns gvsllipaga ipqgrvyemy vtvhrketmr ppmddsqtll
      241 tpvvscgppg alltrpvvlt mhhcadpnte dwkillknqa aqgqwedvvv vgeenfttpc
      301 yiqldaeach iltenlstya lvghsttkaa akrlklaifg plccssleys irvyclddtq
      361 dalkeilhle rqmggqllee pkalhfkgst hnlrlsihdi ahslwkskll akyqeipfyh
      421 vwsgsqrnlh ctftlerfsl ntvelvcklc vrqvegegqi fqlnctvsee ptgidlplld
      481 pantittvtg psafsiplpi rqklcsslda pqtrghdwrm lahklnldry lnyfatkssp
      541 tgvildlwea qnfpdgnlsm laavleemgr hetvvslaae gqy
//
LOCUS       XP_047272917             446 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptic vesicle glycoprotein 2C isoform X2 [Homo sapiens].
ACCESSION   XP_047272917
VERSION     XP_047272917.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416961.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..446
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..446
                     /product="synaptic vesicle glycoprotein 2C isoform X2"
                     /calculated_mol_wt=50716
     Region          1..>446
                     /region_name="synapt_SV2"
                     /note="synaptic vesicle protein SV2; TIGR01299"
                     /db_xref="CDD:130366"
     CDS             1..446
                     /gene="SV2C"
                     /gene_synonym="SLC22B3"
                     /coded_by="XM_047416961.1:232..1572"
                     /db_xref="GeneID:22987"
                     /db_xref="HGNC:HGNC:30670"
                     /db_xref="MIM:610291"
ORIGIN      
        1 medsykdrts lmkgakdiar evkkqtvkkv nqavdraqde ytqrsysrfq deeddddyyp
       61 agetyngean ddegsseate ghdeddeiye geyqgipsmn qakdsivsvg qpkgdeykdr
      121 releserrad eeelaqqyel iiqecghgrf qwalffvlgm almadgvevf vvgfvlpsae
      181 tdlcipnsgs gwlgsivylg mmvgaffwgg ladkvgrkqs llicmsvngf faflssfvqg
      241 ygfflfcrll sgfgiggaip tvfsyfaevl arekrgehls wlcmfwmigg iyasamawai
      301 iphygwsfsm gsayqfhswr vfvivcalpc vssvvaltfm pesprfllev gkhdeawmil
      361 klihdtnmra rgqpekvftv nkiktpkqid elieiesdtg twyrrcfvri rtelygiwlt
      421 fmrcfnypvr dntikltivw ftlsfg
//
LOCUS       XP_047272944             661 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 26 isoform X25 [Homo sapiens].
ACCESSION   XP_047272944
VERSION     XP_047272944.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416988.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..661
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..661
                     /product="rho GTPase-activating protein 26 isoform X25"
                     /calculated_mol_wt=75751
     Region          32..204
                     /region_name="BAR"
                     /note="The Bin/Amphiphysin/Rvs (BAR) domain, a
                     dimerization module that binds membranes and detects
                     membrane curvature; cl12013"
                     /db_xref="CDD:448379"
     Region          246..350
                     /region_name="BAR-PH_GRAF_family"
                     /note="GTPase Regulator Associated with Focal adhesion and
                     related proteins Pleckstrin homology (PH) domain; cd01249"
                     /db_xref="CDD:269953"
     Region          343..542
                     /region_name="RhoGAP_Graf"
                     /note="GTPase-activator protein (GAP) domain for Rho-like
                     GTPases found in GRAF (GTPase regulator associated with
                     focal adhesion kinase); Graf is a multi-domain protein,
                     containing SH3 and PH domains, that binds focal adhesion
                     kinase and influences cytoskeletal...; cd04374"
                     /db_xref="CDD:239839"
     Site            order(391,433,437,506,509..510,533)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239839"
     Site            391
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239839"
     CDS             1..661
                     /gene="ARHGAP26"
                     /gene_synonym="GRAF; GRAF1; OPHN1L; OPHN1L1"
                     /coded_by="XM_047416988.1:282..2267"
                     /db_xref="GeneID:23092"
                     /db_xref="HGNC:HGNC:17073"
                     /db_xref="MIM:605370"
ORIGIN      
        1 mrcghypyrv cviyqerhtq kcgscedlll ylssakrkfa dslnefkfqc igdaetddem
       61 ciarslqefa tvlrnleder irmienasev litplekfrk eqigaakeak kkydketeky
      121 cgilekhlnl sskkkesqlq eadsqvdlvr qhfyevsley vfkvqevqer kmfefvepll
      181 aflqglftfy hhgyelakdf gdfktqltis iqntrnrfeg trseveslmk kmkenplehk
      241 tispytmegy lyvqekrhfg tswvkhycty qrdskqitmv pfdqksggkg gedesvilks
      301 ctrrktdsie krfcfdveav drpgvitmqa lseedrrlwm eamdgrepvy nsnkdsqseg
      361 taqldsigfs iirkcihave trgineqgly rivgvnsrvq kllsvlmdpk tasetetdic
      421 aeweiktits alktylrmlp gplmmyqfqr sfikaaklen qesrvseihs lvhrlpeknr
      481 qmlqllmnhl anvannhkqn lmtvanlgvv fgptllrpqe etvaaimdik fqnivieili
      541 enhekifntv pdmpltnaql hlsrkkssds kppscserpl tlfhtvqste kqeqrnsiin
      601 sslesvssnp nsilnssssl qpnmnssdpd lavvkptrpn slhwgfgmcl egctevqspa
      661 s
//
LOCUS       XP_011512855            2718 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 40 isoform X2 [Homo sapiens].
ACCESSION   XP_011512855
VERSION     XP_011512855.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514553.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2718
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..2718
                     /product="zinc finger protein 40 isoform X2"
                     /calculated_mol_wt=296705
     Region          <10..250
                     /region_name="PTZ00108"
                     /note="DNA topoisomerase 2-like protein; Provisional"
                     /db_xref="CDD:240271"
     Region          408..428
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          421..445
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          436..456
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2088..2110
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          2090..2110
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Site            order(2095,2097,2099,2101..2102,2105..2106,2109,2123,
                     2125..2127,2129..2130,2134)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275370"
     Region          2102..2127
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          <2116..2181
                     /region_name="zf-C2H2_2"
                     /note="C2H2 type zinc-finger (2 copies); pfam12756"
                     /db_xref="CDD:432762"
     Region          2118..2136
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Region          2294..2635
                     /region_name="DUF5585"
                     /note="Family of unknown function (DUF5585); pfam17823"
                     /db_xref="CDD:436069"
     CDS             1..2718
                     /gene="HIVEP1"
                     /gene_synonym="CIRIP; CRYBP1; GAAP; MBP-1; PRDII-BF1;
                     Schnurri-1; ZAS1; ZNF40; ZNF40A"
                     /coded_by="XM_011514553.2:239..8395"
                     /db_xref="GeneID:3096"
                     /db_xref="HGNC:HGNC:4920"
                     /db_xref="MIM:194540"
ORIGIN      
        1 mprtkqihpr nlrdkieeaq kelngaevsk keilqagvkg tseslkgvkr kkivaenhlk
       61 kipksplrnp lqakhkqnte essfavlhsa seshkkqnyi pvkngkqftk qngetpgiia
      121 easkseesvs pkkplflqqp selrrwrseg adpakfsdld eqcdssslss ktrtdnseci
      181 sshcgttsps ytntafdvll kamepelstl sqkgspcaik teklrpnkta rsppklknss
      241 mdapnqtsqe lvaesqssct sytvhmsaaq kneqgamqsa shlyhqhehf vpksnqhnqq
      301 lpgcsgftgs ltnlqnqena kleqvyniav tssvgltsps srsqvtpqnq qmdsasplsi
      361 spanstqspp mpiynsthva svvnqsveqm cnlllkdqkp kkqgkyicey cnracakpsv
      421 llkhirshtg erpypcvtcg fsfktksnly khkkshahti klglvlqpda gglflshesp
      481 kalsihsdve dsgeseeega tderqhdlga melqpvhiik rmsnaetllk ssftpsspen
      541 vigdfllqdr saesqavtel pkvvvhhvtv splrtdspka mdpkpelssa qkqkdlqvtn
      601 vqplsanmsq ggvsrletne nshqkgdmnp legkqdshvg tvhaqlqrqq atdysqeqqg
      661 kllsprslgs tdsgyfsrse sadqtvsppt pfarrlpste qdsgrsngps aalvttstps
      721 alptgekall lpgqmrppla tktleerisk lisdnealvd dkqldsvkpr rtslsrrgsi
      781 dspksyifkd sfqfdlkpvg rrtssssdip kspftpteks kqvfllsvps ldclpitrsn
      841 smpttgysav paniippphp lrgsqsfddk igafyddvfv sgpnapvpqs ghprtlvrqa
      901 aiedssanes hvlgtgqsld eshqgchaag eamsvrskal aqgphiekkk shqgrgtmfe
      961 cetcrnryrk lenfenhkkf ycselhgpkt kvamrepehs pvpgglqpqi lhyrvagssg
     1021 iweqtpqirk rrkmksvgdd eelqqnesgt spksseglqf qnalgcnpsl pkhnvtirsd
     1081 qqhkniqlqn shihlvargp eqtmdpklst imeqqissaa qdkielqrhg tgisviqhtn
     1141 slsrpnsfdk pepferaspv sfqelnrtgk sgslkvigis qeeshpsrdg shphqlalsd
     1201 alrgelqess rkspserhvl gqpsrlvrqh niqvpeilvt eepdrdleaq chdqeksekf
     1261 swpqrsetls klpteklppk kkrlrlaeie hsstessfds tlsrslsres slshtssfsa
     1321 sldiedvskt easpkidfln kaeflmipag lntlnvpgch remrrtaseq inctqtsmev
     1381 sdlrsksfdc gsitppqttp ltelqppssp srvgvtghvp llerrrgplv rqislniapd
     1441 shlspvhpts fqntalpsvn avpyqgpqlt stslaefsan tlhsqtqvkd lqaetsnsss
     1501 tnvfpvqqlc dinllnqiha ppshqstqls lqvstqgskp dknsvlsgss ksedcfapky
     1561 qlhcqvftsg pscssnpvhs lpnqvisdpv gtdhcvtsat lptklidsms nshpllppel
     1621 rplgsqvqkv pssfmlpirl qssvpaycfa tltslpqilv tqdlpnqpic qtnhsvvpis
     1681 eeqnsvptlq kghqnalpnp ekeflcenvf semsqnssls eslpitqkis vgrlspqqes
     1741 sasskrmlsp ansldiamek hqkrakdeng avcatdvrpl ealssrvnea skqkkpilvr
     1801 qvcttepldg vmlekdvfsq peisneavnl tnvlpadnss tgcskfvvie piselqefen
     1861 iksstsltlt vrsspapsen thisplkctd nnqerkspgv knqgdkvniq eqsqqpvtsl
     1921 slfnikdtqq lafpslkttt nftwcyllrq kslhlpqkdq ktsaytdwtv sasnpnplgl
     1981 ptkvalalln skqntgksly cqaitthsks dllvysskwk sslskralgn qkstvvefsn
     2041 kdaseinseq dkenslikse prrikifdgg yksneeyvyv rgrgrgkyic eecgirckkp
     2101 smlkkhirth tdvrpyhcty cnfsfktkgn ltkhmkskah skkcvdlgvs vglideqdte
     2161 esdekqrfsy ersgydlees dgpdeddnen edddedsqae svlsatpsvt aspqhlpsrs
     2221 slqdpvstde dvritdcfsg vhtdpmdvlp ralltrmtvl staqsdynrk tlspgkarqr
     2281 aardendtip svdtsrspch qmsvdypese eilrssmagk avaitqspss vrlppaaaeh
     2341 spqtaagmps vasphpdpqe qkqqitlqpt pglpsphthl fshlplhsqq qsrtpynmvp
     2401 vggihvvpag ltystfvplq agpvqltipa vsvvhrtlgt hrntvtevsg ttnpagvael
     2461 ssvvpcipig qirvpglqnl stpglqslps lsmetvnivg lantnmapqv hppglalnav
     2521 glqvltanps sqsspapqah ipglqilnia lptlipsvsq vavdaqgape mpasqskace
     2581 tqpkqtsvas anqvsrtesp qglptvqren akkvlnppap agdharldgl skmdtekaas
     2641 anhvkpkpel tsiqgqpast sqpllkahse vftkpsgqqt lspdrqvprp talprrqptv
     2701 hfsdvssddd edrlviat
//
LOCUS       XP_011512996             331 aa            linear   PRI 20-MAR-2023
DEFINITION  chloride intracellular channel protein 5 isoform X2 [Homo sapiens].
ACCESSION   XP_011512996
VERSION     XP_011512996.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514694.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..331
                     /product="chloride intracellular channel protein 5 isoform
                     X2"
                     /calculated_mol_wt=37368
     Region          173..>296
                     /region_name="O-ClC"
                     /note="intracellular chloride channel protein; TIGR00862"
                     /db_xref="CDD:129941"
     Region          267..>330
                     /region_name="GST_C_family"
                     /note="C-terminal, alpha helical domain of the Glutathione
                     S-transferase family; cl02776"
                     /db_xref="CDD:445916"
     Site            order(268..269,272..273,276,299)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:198286"
     CDS             1..331
                     /gene="CLIC5"
                     /gene_synonym="DFNB102; DFNB103; MST130; MSTP130"
                     /coded_by="XM_011514694.4:107..1102"
                     /db_xref="GeneID:53405"
                     /db_xref="HGNC:HGNC:13517"
                     /db_xref="MIM:607293"
ORIGIN      
        1 mndedystiy dtiqnertye vpdqpeenes phyddvheyl rpendlyatq lntheydfvs
       61 vytikgeets lasvqsedrg yllpdeiyse lqeahpgepq edrgismegl ysstqdqqlc
      121 aaelqengsv mkedlpspss ftiqhskafs ttkyscysda egleekegah mnpeiylfvk
      181 agidgesign cpfsqrlfmi lwlkgvvfnv ttvdlkrkpa dlhnlapgth ppfltfngdv
      241 ktdvnkieef leetltpeky pklaakhres ntagidifsk fsayikntkq qnnagilqcv
      301 gswqcdegdr ildellhsed pmtvstgkkf e
//
LOCUS       XP_016866988             308 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptotagmin-like protein 3 isoform X6 [Homo sapiens].
ACCESSION   XP_016866988
VERSION     XP_016866988.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017011499.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..308
                     /product="synaptotagmin-like protein 3 isoform X6"
                     /calculated_mol_wt=34936
     Region          8..123
                     /region_name="PHD_SF"
                     /note="PHD finger superfamily; cl22851"
                     /db_xref="CDD:451427"
     Region          60..108
                     /region_name="FYVE_like_SF"
                     /note="FYVE domain like superfamily; cl28890"
                     /db_xref="CDD:333710"
     Site            order(76..81,86,101)
                     /site_type="other"
                     /note="phosphatidylinositol 3-phosphate binding site
                     [chemical binding]"
                     /db_xref="CDD:277249"
     CDS             1..308
                     /gene="SYTL3"
                     /gene_synonym="SLP3"
                     /coded_by="XM_017011499.2:323..1249"
                     /db_xref="GeneID:94120"
                     /db_xref="HGNC:HGNC:15587"
ORIGIN      
        1 maqeidlsal kelereailq vlyrdqavqn teeertrklk thlqhlrwkg akntdwehke
       61 kccarcqqvl gfllhrgavc rgcshrvcaq crvflrgtha wkctvcfedr nvkiktgewf
      121 yeerakkfpt ggkhetvggq llqsyqklsk isvvpptppp vsesqcsrsp grlqefgqfr
      181 gfnksvenlf lslathvkkl sksqndmtse khllatgprq cvgqterrsq sdtavnvttr
      241 kvsapdilkp lnqedpkcst npilkqqnlp sspapstifs ggfrhkyasr pvrtlpmekk
      301 rrksairm
//
LOCUS       XP_016868004             345 aa            linear   PRI 20-MAR-2023
DEFINITION  limb region 1 protein homolog isoform X5 [Homo sapiens].
ACCESSION   XP_016868004
VERSION     XP_016868004.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017012515.3
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 22% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..345
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..345
                     /product="limb region 1 protein homolog isoform X5"
                     /calculated_mol_wt=38790
     Region          23..>322
                     /region_name="LMBR1"
                     /note="LMBR1-like membrane protein; pfam04791"
                     /db_xref="CDD:428125"
     CDS             1..345
                     /gene="LMBR1"
                     /gene_synonym="ACHP; C7orf2; DIF14; LSS; PPD2; THYP; TPT;
                     TPTPS; ZRS"
                     /coded_by="XM_017012515.3:191..1228"
                     /db_xref="GeneID:64327"
                     /db_xref="HGNC:HGNC:13243"
                     /db_xref="MIM:605522"
ORIGIN      
        1 megqdevsar eqhfhsqvre sticfllfai lyvvsyfiit rykrksdeqe dedaivnris
       61 lflstftlav sagavlllpf siisneills fpqnyyiqwl ngslihglwn laslfsnlcl
      121 fvlmpfafff lesegfaglk kgirarilet lvmllllall ilgivwvasa lidndaasme
      181 slydlwefyl pylyscislm gclllllctp vglsrmftvm gqllvkptil edldeqiyii
      241 tleeealqrr lnvgmlcagn pevatgrqvp eeqagqlllg kwiqeggdmi anprlsssve
      301 ynimeleqel envktlktkl dhwklcvhlg felcsacdve ntgas
//
LOCUS       XP_016868112            1186 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 5 isoform X1 [Homo sapiens].
ACCESSION   XP_016868112
VERSION     XP_016868112.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017012623.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1186
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1186
                     /product="rho guanine nucleotide exchange factor 5 isoform
                     X1"
                     /calculated_mol_wt=128851
     Region          1..478
                     /region_name="ARHGEF5_35"
                     /note="Rho guanine nucleotide exchange factor 5/35;
                     pfam15441"
                     /db_xref="CDD:434720"
     Region          <510..1053
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..1186
                     /gene="ARHGEF5"
                     /gene_synonym="GEF5; P60; TIM; TIM1"
                     /coded_by="XM_017012623.3:113..3673"
                     /db_xref="GeneID:7984"
                     /db_xref="HGNC:HGNC:13209"
                     /db_xref="MIM:600888"
ORIGIN      
        1 meaeeaqrga sppisaieef siipeapmrs sqvsalglea qededpsykw reehrlsatq
       61 qselrdvcdy aietmpsfpk egsadvepnq eslvaeacdt pehweavpqs lagrqartla
      121 ppelwacpiq sehldmapfs sdlgseeeev efwpgltslt lgsgqaeeee etssdnsgqt
      181 ryyspceehp aetnqnegse sgtirqgeel ppeelqesqg llhpqevqvl eeqgqqeagf
      241 rgegtlredv cadgllgeeq mieqvndekg eqkqkqeqvq dvmlgrqger mgltgepegl
      301 ndgeweqedm erkaqgqggp eqgeerkrel qvpeenrads qdeksqtflg kseevtgkqe
      361 dhgikekgvp vsgqeakepe swdggrlgav grarsreeen ehhgpsmpal iapedsphcd
      421 lfpgasylmt qipgtqtesr aeelspaals pslepircsh qpisllgsfl teespdkeid
      481 qnsqqeesrl rkgtvssqgt evvfasasvt pprtpdsapp spaeaypitp asvsarppva
      541 fprretscaa rapetasapl smddpspcgt semcpaalyg fpstgtsppr ppanstgtvq
      601 hlrsdsfpgs hrteqtpdlv gmllsyshse lpqrppkpai yssvtprrdr rsgrdystvs
      661 asptalstlk qdsqesisnl erpssppsiq pwvsphnpaf atespaygss psfvsmedvr
      721 iheplppppp qrrdthpsvv etdgharvvv ptlkqhshpp plalgsglha phkgplpqas
      781 dpavarqhrp lpstpdsshh aqatprwryn kplpptpdlp qphlppisap gssriyrplp
      841 plpiidppte ppplppksrg rsrstrgghm nsgghaktrp acqdwtvplp asagrtswpp
      901 atarstesft stsrsksevs pgmafsnmtn flcpsspttp wtpelqgpts kdeagvsehp
      961 eapareplrr ttpqqgasgp grspvgqarq pekpshlhle kasswphrrd sgrppgdssg
     1021 qavapsegan khkgwsrqgl rrpsilpegs sdsrgpavek hpgpsdtvvf rekkpkevmg
     1081 gfsrrcskli nssqllyqey sdvvlnkeiq sqqrleslse tpgpssprqp rkalvssesy
     1141 lqrlsmassg slwqeipvvr nstvllsmth edqklqevpf rpgrel
//
LOCUS       XP_047277210            1464 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor coactivator 2 isoform X3 [Homo sapiens].
ACCESSION   XP_047277210
VERSION     XP_047277210.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421254.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1464
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1464
                     /product="nuclear receptor coactivator 2 isoform X3"
                     /calculated_mol_wt=158951
     Region          28..91
                     /region_name="bHLH-PAS_NCoA2_SRC2"
                     /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS)
                     domain found in nuclear receptor coactivator 2 (NCoA-2)
                     and similar proteins; cd18950"
                     /db_xref="CDD:381520"
     Site            order(30..32,36,38..39,43,68..69)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381520"
     Site            order(41..42,45..46,48..49,70,73,77,79..80,84,86)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381520"
     Region          118..175
                     /region_name="PAS"
                     /note="PAS domain; smart00091"
                     /db_xref="CDD:214512"
     Site            order(139,143,149,162..165,195)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238075"
     Site            order(159,163,172,175..176,202,204)
                     /site_type="other"
                     /note="heme pocket [chemical binding]"
                     /db_xref="CDD:238075"
     Region          268..378
                     /region_name="PAS_11"
                     /note="PAS domain; pfam14598"
                     /db_xref="CDD:434060"
     Region          463..587
                     /region_name="NCOA_u2"
                     /note="Unstructured region on nuclear receptor coactivator
                     protein; pfam16665"
                     /db_xref="CDD:435498"
     Region          636..709
                     /region_name="SRC-1"
                     /note="Steroid receptor coactivator; pfam08832"
                     /db_xref="CDD:430247"
     Region          731..816
                     /region_name="DUF4927"
                     /note="Domain of unknown function (DUF4927); pfam16279"
                     /db_xref="CDD:435255"
     Region          1002..1046
                     /region_name="Nuc_rec_co-act"
                     /note="Nuclear receptor coactivator; pfam08815"
                     /db_xref="CDD:430233"
     Region          1282..1338
                     /region_name="DUF1518"
                     /note="Domain of unknown function (DUF1518); pfam07469"
                     /db_xref="CDD:429477"
     CDS             1..1464
                     /gene="NCOA2"
                     /gene_synonym="bHLHe75; GRIP1; KAT13C; NCoA-2; SRC2; TIF2"
                     /coded_by="XM_047421254.1:186..4580"
                     /db_xref="GeneID:10499"
                     /db_xref="HGNC:HGNC:7669"
                     /db_xref="MIM:601993"
ORIGIN      
        1 msgmgentsd psraetrkrk ecpdqlgpsp krntekrnre qenkyieela elifanfndi
       61 dnfnfkpdkc ailketvkqi rqikeqekaa aanidevqks dvsstgqgvi dkdalgpmml
      121 ealdgfffvv nlegnvvfvs envtqylryn qeelmnksvy silhvgdhte fvknllpksi
      181 vnggswsgep prrnshtfnc rmlvkplpds eeeghdnqea hqkyetmqcf avsqpksike
      241 egedlqscli cvarrvpmke rpvlpssesf ttrqdlqgki tsldtstmra amkpgwedlv
      301 rrciqkfhaq hegesvsyak rhhhevlrqg lafsqiyrfs lsdgtlvaaq tksklirsqt
      361 tnepqlvisl hmlhreqnvc vmnpdltgqt mgkplnpiss nspahqalcs gnpgqdmtls
      421 sninfpingp keqmgmpmgr fggsggmnhv sgmqattpqg snyalkmnsp sqsspgmnpg
      481 qptsmlsprh rmspgvagsp rippsqfspa gslhspvgvc sstgnshsyt nsslnalqal
      541 seghgvslgs slaspdlkmg nlqnspvnmn ppplskmgsl dskdcfglyg epsegttgqa
      601 esschpgeqk etndpnlppa vsseradgqs rlhdskgqtk llqllttksd qmepsplass
      661 lsdtnkdstg slpgsgsthg tslkekhkil hrllqdsssp vdlakltaea tgkdlsqess
      721 stapgsevti kqepvspkkk enallrylld kddtkdiglp eitpklerld sktdpasntk
      781 liamktekee msfepgdqpg seldnleeil ddlqnsqlpq lfpdtrpgap agsvdkqaii
      841 ndlmqltaen spvtpvgaqk talrisqsrm ignsasrptm psgewapqss avrvtcaatt
      901 samnrpvqgg mirnpaasip mrpssqpgqr qtlqsqvmni gpselemnmg gpqysqqqap
      961 pnqtapwpes ilpidqasfa sqnrqpfgss pddllcphpa aespsdegal ldqlylalrn
     1021 fdgleeidra lgipelvsqs qavdpeqfss qdsnimleqk apvfpqqyas qaqmaqgsys
     1081 pmqdpnfhtm gqrpsyatlr mqprpglrpt glvqnqpnql rlqlqhrlqa qqnrqplmnq
     1141 isnvsnvnlt lrpgvptqap inaqmlaqrq reilnqhlrq rqmhqqqqvq qrtlmmrgqg
     1201 lnmtpsmvap sgmpatmsnp ripqanaqqf pfppnygtgl rspppftspf spvspsvgsq
     1261 llshsslhgs qmnlanqgmi gnlggqlgpv rspqvqhstf qalssgisqq pdpgftgatt
     1321 pqsplmsprm ahtqspmmqq sqanpayqap sdingwaqgn mggnsmfsqq spphfgqqan
     1381 tsmysnnmni nvsmatntgg mssmnqmtgq ismtsvtsvp tsglssmgpe qvndpalrgg
     1441 nlfpnqlpgm dmikqegdtt rkyc
//
LOCUS       XP_016869268            1162 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription initiation factor TFIID subunit 2 isoform X3 [Homo
            sapiens].
ACCESSION   XP_016869268
VERSION     XP_016869268.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017013779.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1162
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1162
                     /product="transcription initiation factor TFIID subunit 2
                     isoform X3"
                     /calculated_mol_wt=132531
     Region          28..523
                     /region_name="M1_like_TAF2"
                     /note="TATA binding protein (TBP) associated factor 2;
                     cd09839"
                     /db_xref="CDD:341074"
     Site            order(157,180,185,188,312,315,335..337,389..390,393..394,
                     396..397,399..400,403,432,521)
                     /site_type="other"
                     /note="intramolecular interface [polypeptide binding]"
                     /db_xref="CDD:341074"
     Site            order(467..468,471,475,479,506)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:341074"
     CDS             1..1162
                     /gene="TAF2"
                     /gene_synonym="CIF150; MRT40; TAF2B; TAFII150"
                     /coded_by="XM_017013779.3:278..3766"
                     /db_xref="GeneID:6873"
                     /db_xref="HGNC:HGNC:11536"
                     /db_xref="MIM:604912"
ORIGIN      
        1 mpltgvepar mnrkkgdkgf esprpyklth qvvcinninf qrksvvgfve ltifptvanl
       61 nriklnskqc riyrvrindl eaafiyndpt levchseskq rnlnyfsnay aaavsavdpd
      121 agngelcikv pselwkhvde lkvlkihinf sldqpkgglh fvvpsvegsm aergahvfsc
      181 gyqnstrfwf pcvdsyselc twkleftvda amvavsngdl vetvythdmr kktfhymlti
      241 ptaasnisla igpfeilvdp ymhevthfcl pqllpllkht tsylhevfef yeeiltcryp
      301 yscfktvfid eayvevaaya smsifstnll hsamiidetp ltrrclaqsl aqqffgcfis
      361 rmswsdewvl kgisgyiygl wmkktfgvne yrhwikeeld kivayelktg gvllhpifgg
      421 gkekdnpash lhfsikhpht lsweyysmfq ckahlvmrli enrismefml qvfnkllsla
      481 stassqkfqs hmwsqmlvst sgflksisnv sgkdiqplik qwvdqsgvvk fygsfafnrk
      541 rnvleleikq dytspgtqky vgplkvtvqe ldgsfnhtlq ieenslkhdi pchsksrrnk
      601 kkkiplmnge evdmdlsamd adspllwiri dpdmsvlrkv efeqadfmwq yqlryerdvv
      661 aqqesilale kfptpasrla ltdileqeqc fyrvrmsacf clakiansmv stwtgppamk
      721 slftrmfcck scpnivktnn fmsfqsyflq kfsdnyyrae midalansvt pavsvnnevr
      781 tldnlnpdvr lileeitrfl nmekllpsyr htitvsclra irvlqknghv psdpalfksy
      841 aeyghfvdir iaaleavvdy tkvdrsyeel qwllnmiqnd pvpyvrhkil nmltknppft
      901 knmesplcne alvdqlwklm nsgtshdwrl rcgavdlyft lfglsrpscl plpelglvln
      961 lkekkavlnp tiipesvagn qeaannpssh pqlvgfqnpf sssqdeeeid mdtvhdsqaf
     1021 ishhlnmler pstpglskyr passrsalip qhsagcdstp ttkpqwslel arkgtgkeqa
     1081 plemsmhpaa saplsvftke staskhsdhh hhhhhehkkk kkkhkhkhkh khkhdskekd
     1141 kepftfsspa sgrsirspsl sd
//
LOCUS       XP_016870519             254 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc-regulated GTPase metalloprotein activator 1F isoform X12 [Homo
            sapiens].
ACCESSION   XP_016870519
VERSION     XP_016870519.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017015030.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..254
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..254
                     /product="zinc-regulated GTPase metalloprotein activator
                     1F isoform X12"
                     /calculated_mol_wt=27592
     Region          <19..>62
                     /region_name="COG3044"
                     /note="Predicted ATPase of the ABC class [General function
                     prediction only]"
                     /db_xref="CDD:225586"
     Region          43..215
                     /region_name="CobW-like"
                     /note="cobalamin synthesis protein CobW; cd03112"
                     /db_xref="CDD:349766"
     Site            order(52..57,136,183..184)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:349766"
     Site            order(75,80,109)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:349766"
     CDS             1..254
                     /gene="ZNG1F"
                     /gene_synonym="CBWD6; CBWD7"
                     /coded_by="XM_017015030.2:60..824"
                     /db_xref="GeneID:644019"
                     /db_xref="HGNC:HGNC:31978"
ORIGIN      
        1 mlpavgsvde eedpaeedcp elvpiettqs eeeeksglga kipvtiitgy lgagkttlln
       61 yilteqhskr vavilnesge gsalekslav sqggelyeew lelrngclcc svkdnglrai
      121 enlmqkkgkf ddillettgl adpgiitivd skyglkhlte ekpdglinea trqvaladii
      181 linktdlvpe edvkklrttl rsinglgqil etqrsslqkk lqhvpgtqph ldqrghllne
      241 glmtcisgrs enls
//
LOCUS       XP_047298340            1603 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase WNK3 isoform X5 [Homo sapiens].
ACCESSION   XP_047298340
VERSION     XP_047298340.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442384.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1603
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1603
                     /product="serine/threonine-protein kinase WNK3 isoform X5"
                     /calculated_mol_wt=177026
     Region          136..410
                     /region_name="STKc_WNK3"
                     /note="Catalytic domain of the Serine/Threonine protein
                     kinase, With No Lysine (WNK) 3; cd14031"
                     /db_xref="CDD:270933"
     Site            order(153..157,159,161,174,176,207,227..230,234,236,275,
                     277,279..280,282,294,297,311..314)
                     /site_type="active"
                     /db_xref="CDD:270933"
     Site            order(153..157,161,174,176,207,227..230,234,275,277,
                     279..280,282,294)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270933"
     Site            order(157,234,236,275,277,279,297,311..314)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270933"
     Site            293..314
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270933"
     Region          426..489
                     /region_name="OSR1_C"
                     /note="Oxidative-stress-responsive kinase 1 C-terminal
                     domain; pfam12202"
                     /db_xref="CDD:432397"
     CDS             1..1603
                     /gene="WNK3"
                     /gene_synonym="PRKWNK3"
                     /coded_by="XM_047442384.1:368..5179"
                     /db_xref="GeneID:65267"
                     /db_xref="HGNC:HGNC:14543"
                     /db_xref="MIM:300358"
ORIGIN      
        1 matdsgdpas tedsekpdgi sfenrvpqva atltvearlk eknstfsasg etverkrffr
       61 ksvemteddk vaesspkder ikaamniprv dklpsnvlrg gqevkyeqcs kstseiskdc
      121 fkeknekeme eeaemkavat spsgrflkfd ielgrgafkt vykgldtetw vevawcelqd
      181 rkltkaeqqr fkeeaemlkg lqhpnivrfy dswesilkgk kcivlvtelm tsgtlktylk
      241 rfkvmkpkvl rswcrqilkg lqflhtrtpp iihrdlkcdn ifitgptgsv kigdlglatl
      301 mrtsfaksvi gtpefmapem yeehydesvd vyafgmcmle matseypyse cqnaaqiyrk
      361 vtsgikpasf nkvtdpevke iiegcirqnk serlsirdll nhaffaedtg lrvelaeedd
      421 csnsslalrl wvedpkklkg khkdneaief sfnletdtpe evayemvksg ffhesdskav
      481 aksirdrvtp ikktrekkpa gcleerrdsq cksmgnvfpq pqnttlplap aqqtgaecee
      541 tevdqhvrqq llqrkpqqhc ssvtgdnlse agaasvihsd tssqpsvays snqtmgsqmv
      601 snipqaevnv pgqiyssqql vghyqqvsgl qkhskltqpq ilplvqgqst vlpvhvlgpt
      661 vvsqpqvspl tvqkvpqikp vsqpvgaeqq aallkpdlvr slnqdvattk envsspdnps
      721 gngkqdrikq rrascprpek gtkfqltvlq vstsgdnmve cqlethnnkm vtfkfdvdgd
      781 apediadymv ednfvlesek ekfveelrai vgqaqeilhv hfateratgv dsitvdsnss
      841 qtgsseqvqi nststqtsne sapqsspvgr wrfcinqtir nretqsppsl qhsmsavpgr
      901 hplpspknts nkeisrdtll tiennpchra lftsksehkd vvdgkiseca svetkqpail
      961 yqvednrqim apvtnsssys ttsvravpae cegltkqasi fipvypchqt asqadalmsh
     1021 pgestqtsgn slttlafdqk pqtlsvqqpa mdaefisqeg ettvnteass pktviptqtp
     1081 glepttlqpt tvlesdgerp pklefadnri ktldeklrnl lyqehsissi ypesqkdtqs
     1141 idspfsssae dtlscpvtev iaishcgikd spvqspnfqq tgskllsnva asqpanisvf
     1201 krdlnvitsv pselclhems sdaslpgdpe aypaavssgg aihlqtgvet eemrsaiapd
     1261 pipltresta dtralnrcka msgsfqrgrf qvitipqqqs akmtsfgieh isvfsetnhs
     1321 seeafiktak sqlveiepat qnpktsfsye klqalqetck enkgvpkqgd nflsfsaace
     1381 tdvssvtpek efeetsatgs smqsgselll kereiltagk qpssdsefsa slagsgksva
     1441 ktgpesnqcl phheeqayaq tqsslfysps spmssddese iededlkvel qrlrekhiqe
     1501 vvnlqtqqnk elqelyerlr sikdsktqst eiplppaspr rprsfksklr srpqslthvd
     1561 ngivatgksc linelenlpa lfweakaggl leprswrpaw atk
//
LOCUS       XP_016885252             221 aa            linear   PRI 20-MAR-2023
DEFINITION  tafazzin isoform X7 [Homo sapiens].
ACCESSION   XP_016885252
VERSION     XP_016885252.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029763.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..221
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..221
                     /product="tafazzin isoform X7"
                     /calculated_mol_wt=25234
     Region          41..>124
                     /region_name="LPLAT"
                     /note="Lysophospholipid acyltransferases (LPLATs) of
                     glycerophospholipid biosynthesis; cl17185"
                     /db_xref="CDD:450169"
     CDS             1..221
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /coded_by="XM_017029763.2:306..971"
                     /db_xref="GeneID:6901"
                     /db_xref="HGNC:HGNC:11577"
                     /db_xref="MIM:300394"
ORIGIN      
        1 mplhvkwpfp avppltwtla ssvvmglvgt yscfwtkymn hltvhnrevl yeliekrgpa
       61 tplitvsnhq scmddphlwg ilklrhiwnl klmrwtpaaa dicftkelhs hffslgkcvp
      121 vcrgigrlia echlnpiilp lwhvgmndvl pnsppyfprf gqkitvligk pfsalpvler
      181 lraenksave mrkaltdfiq eefqhlktqa eqlhnhlqpg r
//
LOCUS       XP_054186537             691 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 311 isoform X2 [Homo sapiens].
ACCESSION   XP_054186537
VERSION     XP_054186537.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330562.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167246.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..691
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..691
                     /product="zinc finger protein 311 isoform X2"
                     /calculated_mol_wt=78991
     CDS             1..691
                     /gene="ZNF311"
                     /gene_synonym="zf31"
                     /coded_by="XM_054330562.1:408..2483"
                     /db_xref="GeneID:282890"
                     /db_xref="HGNC:HGNC:13847"
ORIGIN      
        1 mqevrrggsv ihhkeeegev sprkkessvv lldessgpps qllwtrqdtq lpqesallpa
       61 pypaftkdgs qgnlpqadit lmsqaqesvt fedvavnftn rewqcltyaq rhlykdvmle
      121 nygnmvslgf pfpkpplish lerevdpcvq dpqdreslsc sypvsadkmw penekassqq
      181 eifengeayw mkfnsllkvd srdpkvrevc vqdvklenqw etsireklre ekegseevtc
      241 kkgknqkvls knlnpnskhs qcnkvliaqk lhecarcgkn fswhsdlilh eqihsgekph
      301 vcnecgkafk trnqlsmhri ihtgekpfnc tqcgkafnsr salcrhkkth sgekphecrd
      361 cgkafktrnr lcmhqlihtg ekpykcnccg kafqfkhslt ihgrihtgek pyeceecgka
      421 fsgssdltkh irihtgerpy ecskcgrafs rssdlskhkr ihtrekhygc pqcgkdfsik
      481 aeltkhrrih teekryrcee cgkafrhnck rraherehtg ekpyqcrdcg ktfqdkhclt
      541 ihqrihtgek pykclecgka fsgksnltnh rrihtgekph kcevcgmafh hssvlrqhkr
      601 ihtgekpytc secgtsfrqg salighkrvh tgekpyecee cgkafrvssn ltghkkrkhq
      661 vwstheldgs rkslspvtvs qtsvvsilts a
//
LOCUS       XP_054187033             269 aa            linear   PRI 20-MAR-2023
DEFINITION  HLA class II histocompatibility antigen, DQ beta 2 chain isoform
            X17 [Homo sapiens].
ACCESSION   XP_054187033
VERSION     XP_054187033.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331058.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..269
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..269
                     /product="HLA class II histocompatibility antigen, DQ beta
                     2 chain isoform X17"
                     /calculated_mol_wt=30363
     CDS             1..269
                     /gene="HLA-DQB2"
                     /gene_synonym="DQB2; HLA-DQB1; HLA-DXB"
                     /coded_by="XM_054331058.1:51..860"
                     /db_xref="GeneID:3120"
                     /db_xref="HGNC:HGNC:4945"
                     /db_xref="MIM:615161"
ORIGIN      
        1 mswkmalqip ggfwaaavtv mlvmlstpva eardfpkdfl vqfkgmcyft ngtervrgva
       61 ryiynreeyg rfdsdvgefq avtelgrsie dwnnykdfle qeraavdkvc rhnyeaelrt
      121 tlqrqveptv tispsrteal nhhnllvcsv tdfypaqikv qwfrndqeet agvvstslir
      181 ngdwtfqilv mleitpqrgd iytcqvehps lqspitvewr aqsesaqskm lggvggfvlg
      241 liflglglii rhrgqkgeep kgemgedgl
//
LOCUS       XP_054188467            1242 aa            linear   PRI 20-MAR-2023
DEFINITION  liprin-alpha-1 isoform X14 [Homo sapiens].
ACCESSION   XP_054188467
VERSION     XP_054188467.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332492.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_021160005.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 36% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.3"
     Protein         1..1242
                     /product="liprin-alpha-1 isoform X14"
                     /calculated_mol_wt=139854
     CDS             1..1242
                     /gene="PPFIA1"
                     /gene_synonym="LIP.1; LIP1; LIPRIN"
                     /coded_by="XM_054332492.1:226..3954"
                     /db_xref="GeneID:8500"
                     /db_xref="HGNC:HGNC:9245"
                     /db_xref="MIM:611054"
ORIGIN      
        1 mmcevmptis eaegppgggg ghgsgspsqp dadshfeqlm vsmleerdrl ldtlretqet
       61 laltqgklhe vgherdslqr qlntalpqef aaltkelnvc reqllereee iaelkaernn
      121 trlllehlec lvsrherslr mtvvkrqaqs pagvssevev lkalkslfeh hkaldekvre
      181 rlrvalercs lleeelgath kelmilkeqn nqkktltdgv ldinheqent pstsgkrssd
      241 gslsheedla kvielqeiis kqsreqsqmk erlaslsshv teleedldta rkdlikseem
      301 ntklqrdvre amaqkedmee rittlekryl aaqreatsvh dlndklenei ankdsmhrqt
      361 edknrqlqer lelaeqklqq tlrkaetlpe veaelaqrva alskaeerhg nieerlrqme
      421 aqleeknqel qrarqrekmn eehnkrlsdt vdkllsesne rlqlhlkerm aaledknsll
      481 revesakkql eetqhdkdql vlniealrae ldhmrlrgas lhhgrphlgs vpdfrfpmad
      541 ghtdsystsa vlrrpqkgrl aalrdepskv qtlneqdwer aqqasvlanv aqafesdadv
      601 sdgeddrdtl lssvdllsps gqadahtlam mlqeqldain keirliqeek enteqraeei
      661 esrvgsgsld nlgrfrsmss ippypassla sssppgsgrs tprriphspa revdrlgvmt
      721 lpspdsfliq tsgphqsvvy sstsppsstp cysdssqhaq lppsreevrd dkttikcets
      781 ppsspralrl drlhkgalht vshedirdir nstgsqdgpv snpsssnssq dslhkapkkk
      841 gikssigrlf gkkekgrpgq tgkealgqag vsetdnssqd alglsklggq aeknrklqkk
      901 helleearrq glpfaqwdgp tvvvwlelwv gmpawyvaac ranvksgaim salsdteiqr
      961 eigisnplhr lklrlaiqei msltspsapp tsrtqtlayg dmnhewigne wlpslglpqy
     1021 rsyfmeclvd armldhltkk dlrgqlkmvd sfhrnsfqcg imclrrlnyd rkelerkree
     1081 sqseikdvlv wsndrvirwi lsiglkeyan nliesgvhga llaldetfdf salalllqip
     1141 tqntqaravl erefnnllvm gtdrrfdedd dksfrrapsw rkkfrpkdir glaagsaetl
     1201 panfrvtssm sspsmqpkkm qmdgnvsgtq rldsatvrty sc
//
LOCUS       XP_054188500             548 aa            linear   PRI 20-MAR-2023
DEFINITION  general transcription factor IIH subunit 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054188500
VERSION     XP_054188500.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332525.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_021160006.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..548
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     Protein         1..548
                     /product="general transcription factor IIH subunit 1
                     isoform X1"
                     /calculated_mol_wt=61901
     CDS             1..548
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /coded_by="XM_054332525.1:458..2104"
                     /db_xref="GeneID:2965"
                     /db_xref="HGNC:HGNC:4655"
                     /db_xref="MIM:189972"
ORIGIN      
        1 matsseevll ivkkvrqkkq dgalylmaer iawapegkdr ftishmyadi kcqkispegk
       61 akiqlqlvlh agdttnfhfs nestavkerd avkdllqqll pkfkrkanke leeknrmlqe
      121 dpvlfqlykd lvvsqvisae efwanrlnvn atdssstsnh kqdvgisaaf ladvrpqtdg
      181 cnglrynlts diiesifrty pavkmkyaen vphnmtekef wtrffqshyf hrdrlntgsk
      241 dlfaecakid ekglktmvsl gvknplldlt aledkpldeg ygissvpsas nsksikensn
      301 aaiikrfnhh samvlaaglr kqeaqneqts epsnmdgnsg dadcfqpavk raklqesiey
      361 edlgknnsvk tialnlkksd ryyhgptpiq slqyatsqdi insfqsirqe meaytpkltq
      421 vlsssaasst italspggal mqggtqqain qmvpndiqse lkhlyvavge llrhfwscfp
      481 vntpfleekv vkmksnlerf qvtklcpfqe kirrqylstn lvshieemlq taynklhtwq
      541 srrlmkkt
//
LOCUS       XP_054187693             802 aa            linear   PRI 20-MAR-2023
DEFINITION  ras GTPase-activating protein 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054187693
VERSION     XP_054187693.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331718.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_011332698.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..802
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     Protein         1..802
                     /product="ras GTPase-activating protein 3 isoform X2"
                     /calculated_mol_wt=92097
     CDS             1..802
                     /gene="RASA3"
                     /gene_synonym="GAP1IP4BP; GAPIII"
                     /coded_by="XM_054331718.1:600..3008"
                     /db_xref="GeneID:22821"
                     /db_xref="HGNC:HGNC:20331"
                     /db_xref="MIM:605182"
ORIGIN      
        1 mrdcyctvnl dqeevfrtki vekslcpfyg edfyceiprs frhlsfyifd rdvfrrdsii
       61 gkvaiqkedl qkyhnrdtwf qlqhvdadse vqgkvhlelr lsevitdtgv vchklatriv
      121 ecqglpivng qcdpyatvtl agpfrseakk tkvkrktnnp qfdevfyfev trpcsyskks
      181 hfdfeeedvd kleirvdlwn asnlkfgdef lgelriplkv lrqsssyeaw yflqprdngs
      241 kslkpddlgs lrlnvvyted hvfssdyysp lrdlllksad vepvsasaah ilgevcrekq
      301 eaavplvrlf lhygrvvpfi saiasaevkr tqdpntifrg nslaskcide tmklagmhyl
      361 hvtlkpaiee icqshkpcei dpvklkdgen lennmenlrq yvdrvfhait esgvscptvm
      421 cdiffslrea aakrfqddpd vrytavssfi flrffapail spnlfqltph htdpqtsrtl
      481 tlisktvqtl gslsksksas fkesymatfy effneqkyad avknfldlis ssgrrdpksv
      541 eqpivlkegf mikraqgrkr fgmknfkkrw frltnhefty hkskgdqply sipienilav
      601 ekleeesfkm knmfqviqpe ralyiqannc veakdwidil tkvsqcnqkr ltvyhpsayl
      661 sghwlccrap sdsapgcspc tgglpaniql didgdreter iyslfnlyms klekmqeacg
      721 sksvydgpeq eeystfvidd pqetyktlkq viagvgaleq ehaqykrdkf kktkygsqeh
      781 pigdksfqny irqqsetsth si
//
LOCUS       XP_054190037             357 aa            linear   PRI 20-MAR-2023
DEFINITION  antizyme inhibitor 2 isoform X7 [Homo sapiens].
ACCESSION   XP_054190037
VERSION     XP_054190037.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334062.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..357
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..357
                     /product="antizyme inhibitor 2 isoform X7"
                     /calculated_mol_wt=38417
     CDS             1..357
                     /gene="AZIN2"
                     /gene_synonym="ADC; AZI2; AZIB1; ODC-p; ODC1L; ODCp"
                     /coded_by="XM_054334062.1:194..1267"
                     /db_xref="GeneID:113451"
                     /db_xref="HGNC:HGNC:29957"
                     /db_xref="MIM:608353"
ORIGIN      
        1 magylsesdf vmveegfstr dllkeltlga sqattdevaa ffvadlgaiv rkhfcflkcl
       61 prvrpfyavk cnsspgvlkv laqlglgfsc ankaemelvq higipaskii canpckqiaq
      121 ikyaakhgiq llsfdnemel akvvkshpsa kmvlciatdd shslsclslk fgvslkscrh
      181 llenakkhhv evvgvsfhig sgcpdpqaya qsiadarlvf emgtelghkm hvldlgggfp
      241 gtegakvrfe eiasvinsal dlyfpegcgv difaelgryy vtsaftvavs iiakkevlld
      301 qpgregrcqr kmvppprpsc ttlmracmgs stqsclttsa lppscrslrt thpatcl
//
LOCUS       XP_054191848             408 aa            linear   PRI 20-MAR-2023
DEFINITION  ZZ-type zinc finger-containing protein 3 isoform X3 [Homo sapiens].
ACCESSION   XP_054191848
VERSION     XP_054191848.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335873.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..408
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..408
                     /product="ZZ-type zinc finger-containing protein 3 isoform
                     X3"
                     /calculated_mol_wt=47486
     CDS             1..408
                     /gene="ZZZ3"
                     /gene_synonym="ATAC1"
                     /coded_by="XM_054335873.1:403..1629"
                     /db_xref="GeneID:26009"
                     /db_xref="HGNC:HGNC:24523"
                     /db_xref="MIM:619892"
ORIGIN      
        1 midlwlysyq rllqtiavle aqrsqavqdl eslgrhqrea lknpigfvek lqkkadiglp
       61 ypqrvvqlpe ivwdqythsl gnferefknr krhtrrvklv fdkglparpk spldpkkdge
      121 slsysmlpls dgpegsssrp qmirgrlcdd tkpetfnqlw tveeqkkleq llikyppeev
      181 esrrwqkiad elgnrtakqv asrvqkyfik ltkagipvpg rtpnlyiysk ksstsrrqhp
      241 lnkhlfkpst fmtsheppvy mdedddrscf hshmntaved asddesipim yrnlpeykel
      301 lqfkklkkqk lqqmqaesgf vqhvgfkcdn cgiepiqgvr whcqdcppem sldfcdscsd
      361 clhetdihke dhqlepiyrs etfldrdycv sqgtsynyld pnyfpanr
//
LOCUS       XP_054192102             101 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C1orf185 isoform X2 [Homo sapiens].
ACCESSION   XP_054192102
VERSION     XP_054192102.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336127.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..101
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..101
                     /product="uncharacterized protein C1orf185 isoform X2"
                     /calculated_mol_wt=11567
     CDS             1..101
                     /gene="C1orf185"
                     /coded_by="XM_054336127.1:7..312"
                     /db_xref="GeneID:284546"
                     /db_xref="HGNC:HGNC:28096"
ORIGIN      
        1 maspkgffny ltyflaagav tlgigffala salwflickr reifqnskfk aidercrqrp
       61 smakikshsq cvfisrnfht grfqlqeeqr kkeaahikgy n
//
LOCUS       XP_054192585             783 aa            linear   PRI 20-MAR-2023
DEFINITION  aryl hydrocarbon receptor nuclear translocator isoform X16 [Homo
            sapiens].
ACCESSION   XP_054192585
VERSION     XP_054192585.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336610.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..783
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..783
                     /product="aryl hydrocarbon receptor nuclear translocator
                     isoform X16"
                     /calculated_mol_wt=85924
     CDS             1..783
                     /gene="ARNT"
                     /gene_synonym="bHLHe2; HIF-1-beta; HIF-1beta; HIF1-beta;
                     HIF1B; HIF1BETA; TANGO"
                     /coded_by="XM_054336610.1:33..2384"
                     /db_xref="GeneID:405"
                     /db_xref="HGNC:HGNC:700"
                     /db_xref="MIM:126110"
ORIGIN      
        1 maattanpem tsdvpslgpa iasgnsgpgi qgggaivqra ikrrpgldfd ddgegnskfl
       61 rcdddqmsnd kerfarsdde qssadkerla renhseierr rrnkmtayit elsdmvptcs
      121 alarkpdklt ilrmavshmk slrgtgntst dgsykpsflt dqelkhlile aadgflfivs
      181 cetgrvvyvs dsvtpvlnqp qsewfgstly dqvhpddvdk lreqlstsen altgrildlk
      241 tgtvkkegqq ssmrmcmgsr rsficrmrcg sssvdpvsvn rlsfvrnrcr nglgsvkdge
      301 phfvvvhctg yikawppadd dpeagqgskf clvaigrlqv tsspnctdms nvcqptefis
      361 rhniegiftf vdhrcvatvg yqpqellgkn ivefchpedq qllrdsfqqv vklkgqvlsv
      421 mfrfrsknqe wlwmrtssft fqnpysdeie yiictntnvk nssqeprptl sntiqrpqlg
      481 ptanlplemg sgqlaprqqq qqteldmvpg rdglasynhs qvvqpvtttg pehskpleks
      541 dglfaqdrdp rfseiyhnin adqskgisss tvpatqqlfs qgntfpptpr paenfrnsgl
      601 appvtivqps asagqmlaqi srhsnptqga tptwtpttrs gfsaqvatqa taktrtsqfg
      661 vgsfqtpssf ssmslpgapt aspgaaayps ltnrgsnfap etgqtagqfq trtaegvgvw
      721 pqwqgqqphh rsssseqhvq qppaqqpgqp evfqemlsml gdqsnsynne efpdltmfpp
      781 fse
//
LOCUS       XP_054193150             374 aa            linear   PRI 20-MAR-2023
DEFINITION  filamin-binding LIM protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054193150
VERSION     XP_054193150.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337175.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..374
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..374
                     /product="filamin-binding LIM protein 1 isoform X1"
                     /calculated_mol_wt=40334
     CDS             1..374
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /coded_by="XM_054337175.1:353..1477"
                     /db_xref="GeneID:54751"
                     /db_xref="HGNC:HGNC:24686"
                     /db_xref="MIM:607747"
ORIGIN      
        1 maskpekrva ssvfitlapp rrdvavaeev rqavcearrg rpweapapmk tpeaglagrp
       61 spwttpgraa atvpaapmql fnggcppppp vldgedvlpd ldllpppppp ppvllpseee
      121 apapmgasli adleqlhlsp pppppqapae gpsvqpgplr pmeeelpppp aepvekgast
      181 dicafchktv fprelaveam krqyhaqcft crtcrrqlag qsfyqkdgrp lcepcyqdtl
      241 ercgkcgevv rdhiiralgq afhpscftcv tcarcigdes falgsqnevy clddfyryek
      301 glctgwgagt rrdpsrvkel slspgcwarv scllvyykey yraglgavah acnpstlggr
      361 ggwitrsgdr dhpg
//
LOCUS       XP_054193198            2211 aa            linear   PRI 20-MAR-2023
DEFINITION  GON-4-like protein isoform X2 [Homo sapiens].
ACCESSION   XP_054193198
VERSION     XP_054193198.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337223.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2211
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2211
                     /product="GON-4-like protein isoform X2"
                     /calculated_mol_wt=245165
     CDS             1..2211
                     /gene="GON4L"
                     /gene_synonym="GON-4; GON4; YARP"
                     /coded_by="XM_054337223.1:83..6718"
                     /db_xref="GeneID:54856"
                     /db_xref="HGNC:HGNC:25973"
                     /db_xref="MIM:610393"
ORIGIN      
        1 mlpckkrrtt vteslqhkgn qeennvdles avkpesdqvk dlssvslswd pshgrvagfe
       61 vqslqdagnq lgmedtslss gmltqntnvp ilegvdvais qgitlpsles fhplnihigk
      121 gklhatgskr gkkmtlrpgp vtqedrcdhl tlkepfsgep seevkeeggk pqmnsegeip
      181 slpsgsqsak pvsqprkstq pdvcaspqek plrtlfhqpe eeiedgglfi pmeeqdnees
      241 ekrrkkkkgt krkrdgrgqe gtlaydlkld dmldrtledg akqhnltavn vrnilhevit
      301 nehvvammka aisetedmpm fepkmtrskl kevvekgvvi ptwnispikk aneikppqfv
      361 dihleeddss deeyqpddee edetaeesll esdvestass prgakksrlr qssemtetde
      421 esgilseaek vttpairhis aevvpmgppp ppkpkqtrds tfmeklhavd eelasspvcm
      481 dsfqpmddsl iafrtrskmp lkdvplgqle aelqapditp dmydpntadd edwkmwlggl
      541 mnddvgnede adddddpeyn fledldepdt edfrtdravr itkkevnelm eelfetfqde
      601 mgfsnmeddg peeeecvaep rpnfntpqal rfeeplanll neqhrtvkel feqlkmkkss
      661 akqlqevekv kpqsekvhqt lildpaqrkr lqqqmqqkel gtfaqssial hhqynpkfqt
      721 lfqpcnlmga mqliedfsth vsidcsphkt vkktanefpc lpkqvawila tskvfmypel
      781 lpvcslkakn pqdkivftka ednllalglk hfegtefpnp liskylltck tahqltvrik
      841 nlnmnrapdn iikfykktkq lpvlgkccee iqphqwkppi ereehrlpfw lkaslpsiqe
      901 elrhmadgar evgnmtgtte insdrslekd nlelgsesry plllpkgvvl klkpvatrfp
      961 rkawrqkrss vlkplliqps pslqpsfnpg ktparsthse appskmvlri phpiqpatvl
     1021 qtvpgvpplg vsggesfesp aalpavppea rtsfplsesq tllssapvpk vmlpslapsk
     1081 frkpyvrrrp skrrgvkasp cmkpapvihh pasviftvpa ttvkivslgg gcnmiqpvna
     1141 avaqspqtip ittllvnpts fpcplnqslv assvsplivs gnsvnlpips tpedkahvnv
     1201 diacavadge nafqglepkl epqelsplsa tvfpkvehsp gppladaecq eglsensacr
     1261 wtvvkteegr qaleplpqgi qeslnnptpg dleeivkmep eeareeisgs perdicddik
     1321 vehaveldtg apseelssag evtkqtvlqk eeersqptkt psssqeppde gtsgtdvnkg
     1381 ssknalssmd pevrlssppg kpedsssvdg qsvgtpvgpe tggekngpee eeeedfddlt
     1441 qdeedemssa seesvlsvpe lqetmekltw laserrmsqe geseeensqe ensepeeeee
     1501 eeaegmeslq kedemtdeav gdsaekpptf aspetapeve tsrtppgesi kaagkgrnnh
     1561 rarnkrgsra raskdtskll llydediler dplreqkdla faqayltrvr ealqhipgky
     1621 edflqviyef esstqrrtav dlykslqill qdwpqllkdf aafllpeqal acglfeeqqa
     1681 feksrkflrq leicfaenps hhqkiikvlq gcadclpqei telktqmwql lkghdhlqde
     1741 fsiffdhlrp aasrmgdfee inwteekeye fdgfeevalp dveeeeeppk iptasknkrk
     1801 keigvqnhdk etewpdgakd cacscheggp dsklkkskrr scshcsskvc dsksykskep
     1861 helvgssphr easpmpgake agqgkdmmee eapeereste atqsrtvrtt rkgempvsgl
     1921 avgstlpspr evtvterlll dgppphspet pqfppttgav lytvkrnqvg pevrscpkas
     1981 prlqkeregq kavsesealm lvwdasetek lpgtveppas flspvssktr dagrrhvsgk
     2041 pdtqerwlps srarvktrdr tcpvhespsg idtsetspka prgglakdsg tqakgpegeq
     2101 qpkaaeatvc annskvsstg ekvvlwtrea drviltmcqe qgaqpqtfni isqqlgnktp
     2161 aevshrfrel mqlfhtacea ssededdats tsnadqlsdh gdllseeeld e
//
LOCUS       XP_054194432             485 aa            linear   PRI 20-MAR-2023
DEFINITION  sterol O-acyltransferase 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054194432
VERSION     XP_054194432.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338457.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..485
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..485
                     /product="sterol O-acyltransferase 1 isoform X2"
                     /calculated_mol_wt=57107
     CDS             1..485
                     /gene="SOAT1"
                     /gene_synonym="ACACT; ACAT; ACAT-1; ACAT1; SOAT; STAT"
                     /coded_by="XM_054338457.1:97..1554"
                     /db_xref="GeneID:6646"
                     /db_xref="HGNC:HGNC:11177"
                     /db_xref="MIM:102642"
ORIGIN      
        1 mkevgshfdd fvtnlieksa sldnggcalt tfsvlegekn nhrakdlrap peqgkifiar
       61 rslldellev dhirtiyhmf iallilfils tlvvdyideg rlvlefslls yafgkfptvv
      121 wtwwimflst fsvpyflfqh watgyskssh plirslfhgf lfmifqigvl gfgptyvvla
      181 ytlppasrfi iifeqirfvm kahsfvrenv prvlnsakek sstvpiptvn qylyflfapt
      241 liyrdsyprn ptvrwgyvam kfaqvfgcff yvyyiferlc aplfrnikqe pfsarvlvlc
      301 vfnsilpgvl ilfltffafl hcwlnafaem lrfgdrmfyk dwwnstsysn yyrtwnvvvh
      361 dwlyyyaykd flwffskrfk saamlavfav savvheyala vclsffypvl fvlfmffgma
      421 fnfivndsrk kpiwnvlmwt slflgngvll cfysqewyar qhcplknptf ldyvrprswt
      481 cryvf
//
LOCUS       XP_054221121             481 aa            linear   PRI 20-MAR-2023
DEFINITION  BEN domain-containing protein 7 isoform X7 [Homo sapiens].
ACCESSION   XP_054221121
VERSION     XP_054221121.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365146.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..481
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..481
                     /product="BEN domain-containing protein 7 isoform X7"
                     /calculated_mol_wt=52650
     CDS             1..481
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /coded_by="XM_054365146.1:33..1478"
                     /db_xref="GeneID:222389"
                     /db_xref="HGNC:HGNC:23514"
ORIGIN      
        1 meikkqitgm rrllndstgr iyqrvgkege klkeepqdld lvwpprlnss aeapqslhps
       61 srgvwnelpp qsgqfsgqyg trsrtfqsqp hpttssngmv vnkhsegshg gelpvvnssa
      121 gsncctcncq stlqailqel ktmrklmqiq avgtqnrqqp pislicsqrt avsrkrnkkk
      181 kvppktvepl tvkqkpsgse mekksvvase lsalqaaeht speesrvlgf givlespssd
      241 pevqlaegfd vfmpksqlds ilsnytrsgs llfrklvcaf fddktlansl pngkrkrgln
      301 dnrkgldqni vgaikvftek yctanhvdkl pgprdwvqil qdqiklarrr lkrgsaeiad
      361 sderldgial pptgacggpc tvlpggsaav tlvlqsspqt msqekgqmae pweeqhlvll
      421 nnltrdraet galsqtsqdf khhsflitqv satlhhqrgi rnfptpgsak sltlhiscls
      481 l
//
LOCUS       XP_054223313             422 aa            linear   PRI 20-MAR-2023
DEFINITION  double homeobox protein 4-like protein 4 [Homo sapiens].
ACCESSION   XP_054223313
VERSION     XP_054223313.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367338.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..422
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..422
                     /product="double homeobox protein 4-like protein 4"
                     /calculated_mol_wt=44651
     CDS             1..422
                     /gene="LOC128966638"
                     /coded_by="XM_054367338.1:112..1380"
                     /db_xref="GeneID:128966638"
ORIGIN      
        1 malptpsdst lpaeargrgr rrrlvwtpsq sealracfer npypgiatre rlaqaigipe
       61 prvqiwfqne rsrqlrqhrr esrpwpgrrg ppegrrkrta vtgsqtalll rafekdrfpg
      121 iaareelare tglpesriqi wfqnrrarhp gqggrapaqa gglcsaapgg ghpapswvaf
      181 ahtgawgtgl paphvpcapg alpqgafvsq aaraapalqp sqaapaegis qpapargdfa
      241 yaapappdga lshpqaprwp phpgksredr dpqrdglpgp cavaqpgpaq agpqgqgvla
      301 pptsqgspww gwgrgpqvag aawepqagaa pppqpappda sarqgqmqgi papsqalqep
      361 apwsalpcgl lldellaspe flqqaqplle teapgeleas eeaasleapl seeeyralle
      421 el
//
LOCUS       XP_054225384            1253 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA2-interacting transcriptional repressor EMSY isoform X23 [Homo
            sapiens].
ACCESSION   XP_054225384
VERSION     XP_054225384.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369409.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1253
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1253
                     /product="BRCA2-interacting transcriptional repressor EMSY
                     isoform X23"
                     /calculated_mol_wt=133653
     CDS             1..1253
                     /gene="EMSY"
                     /gene_synonym="C11orf30; GL002"
                     /coded_by="XM_054369409.1:151..3912"
                     /db_xref="GeneID:56946"
                     /db_xref="HGNC:HGNC:18071"
                     /db_xref="MIM:608574"
ORIGIN      
        1 mpvvwptlld lsrdeckril rkleleayag visalraqgd ltkekkdllg elskvlsist
       61 erhraevrra vnderlttia hnmsgpnsss ewsiegrrlv plmprlvpqt aftvtanava
      121 naaiqhnasl pvpaetgske vvcysytstt stptstpvps gsiatvkspr paspasnvvv
      181 lpsgstvyvk svscsdedek prkrrrtnss ssspvvlkev pkavvpvskt itvpvsgspk
      241 msnimqsian slpphmspvk itftkpstqt tntttqkvii vttspsstfv pnilskshny
      301 aavtklvpts viasttqkpp vvitasqssl vsnsssgsss stpspipntv avtavvsstp
      361 svvmstvaqg vstsaikmas trlpspkslv saptqilaqf pkqhqqspkq qlyqvqqqtq
      421 qqvaqpspvs hqqqpqqspl ppgikptiqi kqesgvkiit qqvqpskilp kpvtatlpts
      481 snspimvvss ngaimttklv ttptgtqaty trptvspsig rmaatpgaat yvkttsgsii
      541 tvvpkslatl ggkiissniv sgtttkitti pmtskpnviv vqkttgkgtt iqglpgknvv
      601 ttllnaggek tiqtvptgak pailtatrpi tkmivtqpkg igstvqpaak iiptkivygq
      661 qgktqvlikp kpvtfqatvv seqtrqlvte tlqqasrvae agnssiqegk eepqnytdss
      721 ssstessqss qvkekleskp rqptidlsqm avpiqmtqek rhspespsia vveselvaey
      781 ittvshrsqp qqpsqpqrtl lqhvaqsqta tqtsvvvksi passpgaith imqqalssht
      841 aftkhseelg teegeveemd tldpqtglfy rsaltqsqsa kqqklsqppl eqtqlqvktl
      901 qcfqtkqkqt ihlqadqlqh klpqmpqlsi rhqkltplqq eqaqpkpdvq htqhpmvakd
      961 rqlptlmaqp pqtvvqvlav kttqqlpklq qapnqpkiyv qpqtpqsqms lpassekqta
     1021 sqveqpiitq gssvtkitfe grqpptvtki tggssvpklt spvtsispiq asektavsdi
     1081 lkmslmeaqi dtnvehmivd ppkkalatsm ltgeagslps thmvvagman stpqqqkcre
     1141 scsspstvgs slttrkidpp avpatgqfmr iqnvgqkkae espaeiiiqa ipqyaipchs
     1201 ssnvvvepsg llelnnftsq qlddeetame qdidsstedg tepspsqssa ers
//
LOCUS       XP_054226279             528 aa            linear   PRI 20-MAR-2023
DEFINITION  large neutral amino acids transporter small subunit 3 isoform X3
            [Homo sapiens].
ACCESSION   XP_054226279
VERSION     XP_054226279.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370304.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..528
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..528
                     /product="large neutral amino acids transporter small
                     subunit 3 isoform X3"
                     /calculated_mol_wt=58061
     CDS             1..528
                     /gene="SLC43A1"
                     /gene_synonym="LAT3; PB39; POV1; R00504"
                     /coded_by="XM_054370304.1:143..1729"
                     /db_xref="GeneID:8501"
                     /db_xref="HGNC:HGNC:9225"
                     /db_xref="MIM:603733"
ORIGIN      
        1 maptlqqayr rrwwmactav lenlffsavl lgwgslliil knegfysstc paesstnttq
       61 deqrrwpgcd qqdemlnlgf tigsfvlsat tlplgilmdr fgprpvrlvg sacftasctl
      121 malasrdvea lspliflals lngfggiclt ftsltliyda gvafvvimft wsglaclifl
      181 nctlnwpiea fpapeevnyt kkiklsglal dhkvtgdlfy thvttmgqrl sqkapsledg
      241 sdafmspqdv rgtsenlper svplrkslcs ptflwslltm gmtqlriify maavnkmley
      301 lvtggqehet neqqqkvaet vgfyssvfga mqllclltcp ligyimdwri kdcvdaptqg
      361 tvlgdardgv atksirpryc kiqkltnais aftltnlllv gfgitclinn lhlqfvtfvl
      421 htivrgffhs acgslyaavf psnhfgtltg lqslisavfa llqqplfmam vgplkgepfw
      481 vnlglllfsl lgfllpsylf yyrarlqqey aangmgplkv lsgsevta
//
LOCUS       XP_054226965            1004 aa            linear   PRI 20-MAR-2023
DEFINITION  methyl-CpG-binding domain protein 6 isoform X1 [Homo sapiens].
ACCESSION   XP_054226965
VERSION     XP_054226965.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370990.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1004
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1004
                     /product="methyl-CpG-binding domain protein 6 isoform X1"
                     /calculated_mol_wt=101199
     CDS             1..1004
                     /gene="MBD6"
                     /coded_by="XM_054370990.1:172..3186"
                     /db_xref="GeneID:114785"
                     /db_xref="HGNC:HGNC:20445"
                     /db_xref="MIM:619458"
ORIGIN      
        1 mnggnessga draggpvats vpigwqrcvr egavlyisps gtelssleqt rsyllsdgtc
       61 kcglecplnv pkvfnfdpla pvtpggagvg paseedmtkl cnhrrkavam atlyrsmett
      121 cshsspgega spqmfhtvsp gppsarppcr vppttplngg pgslppepps vsqafptlag
      181 pgglfpprla dpvpsggsss prflprgnap spapppppai slnapsynwg aalrsslvps
      241 dlgsppapha sssppsdppl fhcsdaltpp plppsnnlpa hpgpasqppv ssatmhlplv
      301 lgplggaptv egpgappfla ssllsaaaka qhpplpppst lqgrrpraqa psashssslr
      361 psqrrprrpp tvfrllegrg pqtprrsrpr apapvpqpfs lpepsqpilp svlsllglpt
      421 pgpshsdgsf nllgsdahlp ppptlssgsp pqprhpiqps lpgttsgsls svpgapappa
      481 askapvvpsp vlqspseglg mgagpacplp plaggeafpf pspeqglals gagfpgmlga
      541 lplplslgqp ppspllnhsl fgvltggggq pppepllppp ggpgpplapg epegpsllva
      601 sllppppsdl lpppsappsn llasflplla lgptagdgeg saegaggpsg epfsglgdls
      661 pllfpplsap ptlialnsal laatldppsg tppqpcvlsa pqpgpptssv ttattdpgas
      721 slgkapsnsg rppqllspll gasllgdlss ltsspgalps llqppgplls gqlglqllpg
      781 ggappplsea ssplacllqs lqqippeqpe apclppespa salepeparp plsalapphg
      841 spdppvpell tgrgsgkrgr rgggglrgin gearpargrk pgsrrepgrl alkwgtrggf
      901 ngqmersprr thhwqhngel aeggaepkdp pppgphsedl kvppgvvrks rrgrrrkynp
      961 trnsnssrqd itlepsptar aavplpprar pgrpaknkrr klap
//
LOCUS       XP_054227093             261 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA oxidative demethylase ALKBH2 isoform X1 [Homo sapiens].
ACCESSION   XP_054227093
VERSION     XP_054227093.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371118.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..261
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..261
                     /product="DNA oxidative demethylase ALKBH2 isoform X1"
                     /calculated_mol_wt=29191
     CDS             1..261
                     /gene="ALKBH2"
                     /gene_synonym="ABH2"
                     /coded_by="XM_054371118.1:275..1060"
                     /db_xref="GeneID:121642"
                     /db_xref="HGNC:HGNC:32487"
                     /db_xref="MIM:610602"
ORIGIN      
        1 mdrflvkgaq ggllrkqeeq eptgeepavl ggdkestrkr prreapgngg hsagpswrhi
       61 raegldcsyt vlfgkaeade ifqelekeve yftgalarvq vfgkwhsvpr kqatygdagl
      121 tytfsgltls pkpwipvler irdhvsgvtg qtfnfvlinr ykdgcdhige hrdderelap
      181 gspiasvsfg acrdfvfrhk dsrgkspsrr vavvrlplah gsllmmnhpt nthwyhslpv
      241 rkkvlaprvn ltfrkilltk k
//
LOCUS       XP_054228210             427 aa            linear   PRI 20-MAR-2023
DEFINITION  periphilin-1 isoform X14 [Homo sapiens].
ACCESSION   XP_054228210
VERSION     XP_054228210.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372235.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..427
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..427
                     /product="periphilin-1 isoform X14"
                     /calculated_mol_wt=48751
     CDS             1..427
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /coded_by="XM_054372235.1:106..1389"
                     /db_xref="GeneID:51535"
                     /db_xref="HGNC:HGNC:19369"
                     /db_xref="MIM:608150"
ORIGIN      
        1 mayrrdemws egryeyerip rerapprshp sdesgyrwtr ddhsasrqpe yrdmrdgfrr
       61 ksfysshyar erspykrdnt ffrespvgrk dsphsrsgss vssrsysper sksysfhqsq
      121 hrnkerpvqs lktsrdtsps sgsavssskv ldkpsrltek elaeaaskwa aekleksdes
      181 nlpeiseyea gstaplftdq peepesntth gielfedsql ttrskaiask tkeieqvyrq
      241 dcetfgmvvk mliekdpsle ksiqfalrqn lheiesagqt wqqvppvrnt emdhdgtpen
      301 egeetaqshd asnhtivglg pnpvpemket tlqapqppqa pqplqprkkr vrrttqlrrt
      361 tgapditwgm lkkttqeaer illrtqtpft penlflamls vvhcnsrkvl vlfilslcll
      421 pvptipy
//
LOCUS       XP_054228929            2287 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase WNK1 isoform X21 [Homo sapiens].
ACCESSION   XP_054228929
VERSION     XP_054228929.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372954.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2287
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2287
                     /product="serine/threonine-protein kinase WNK1 isoform
                     X21"
                     /calculated_mol_wt=240977
     CDS             1..2287
                     /gene="WNK1"
                     /gene_synonym="HSAN2; HSN2; KDP; p65; PPP1R167; PRKWNK1;
                     PSK"
                     /coded_by="XM_054372954.1:988..7851"
                     /db_xref="GeneID:65125"
                     /db_xref="HGNC:HGNC:14540"
                     /db_xref="MIM:605232"
ORIGIN      
        1 msggaaekqs stpgslflsp papapkngss sdssvgeklg aaaadavtgr teeyrrrrht
       61 mdkdsrgaaa tttttehrff rrsvicdsna talelpglpl slpqpsipaa vpqsappeph
      121 reetvtatat sqvaqqppaa aapgeqavag papstvpsst skdrpvsqps lvgskeeppp
      181 arsgsgggsa kepqeersqq qddieeletk avgmsndgrf lkfdieigrg sfktvykgld
      241 tettvevawc elqdrkltks erqrfkeeae mlkglqhpni vrfydswest vkgkkcivlv
      301 telmtsgtlk tylkrfkvmk ikvlrswcrq ilkglqflht rtppiihrdl kcdnifitgp
      361 tgsvkigdlg latlkrasfa ksvigtpefm apemyeekyd esvdvyafgm cmlematsey
      421 pysecqnaaq iyrrvtsgvk pasfdkvaip evkeiiegci rqnkderysi kdllnhaffq
      481 eetgvrvela eeddgekiai klwlriedik klkgkykdne aiefsfdler dvpedvaqem
      541 vesgyvcegd hktmakaikd rvslikrkre qrqlvreeqe kkkqeesslk qqveqssasq
      601 tgikqlpsas tgiptastts asvstqvepe epeadqhqql qyqqpsisvl sdgtvdsgqg
      661 ssvftesrvs sqqtvsygsq heqahstgtv pghipstvqa qsqphgvypp ssvaqgqsqg
      721 qpssssltgv sssqpiqhpq qqgiqqtapp qqtvqyslsq tstsseatta qpvsqpqapq
      781 vlpqvsagkq lpvsqpvpti qgepqipvat qpsvvpvhsg ahflpvgqpl ptpllpqypv
      841 sqipistphv staqtgfssl pitmaagitq plltlassat taaipgvstv vpsqlptllq
      901 pvtqlpsqvh pqllqpavqs mgipanlgqa aevplssgdv lyqstqgvsq vapaepvava
      961 qpqatqpttl assvdsahsd vasgmsdgne nvpsssgrhe grttkrhyrk svrsrsrhek
     1021 tsrpklriln vsnkgdrvve cqlethnrkm vtfkfdldgd npeeiatimv nndfilaier
     1081 esfvdqvrei iekademlse dvsvepegdq gleslqgkdd ygfsgsqkle gefkqpipas
     1141 smpqqigipt ssltqvvhsa grrfivspvp esrlreskvf pseitdtvaa staqspgmnl
     1201 shsasslslq qafselrraq mtegpntapp nfshtgptfp vvppflssia gvpttaaata
     1261 pvpatssppn distsviqse vtvpteegia gvatstgvvt sgglpippvs espvlssvvs
     1321 sitipavvsi sttspslqvp tstseivvss talypsvtvs atsasaggst atpgpkppav
     1381 vsqqaagstt vgatltsvst ttsfpstasq lsiqlsssts tptlaetvvv sahsldktsh
     1441 ssttglafsl sapssssspg agvssyisqp gglhplvips viastpilpq aagptstpll
     1501 pqvpsipplv qpvanvpavq qtlihsqpqp allpnqphth cpevdsdtqp kapgiddikt
     1561 leeklrslfs ehsssgaqha svsletslvi estvtpgipt tavapskllt sttstclppt
     1621 nlplgtvalp vtpvvtpgqv stpvstttsg vkpgtapskp pltkapvlpv gtelpagtlp
     1681 seqlppfpgp sltqsqqple dldaqlrrtl spemitvtsa vgpvsmaapt aiteagtqpq
     1741 kvsqvkegpv latssgagvf kmgrfqvsva adgaqkegkn ksedaksvhf esstsessvl
     1801 sssspestlv kpepngitip gissdvpesa hkttaseaks dtgqptkvgr fqvtttankv
     1861 grfsvskted kitdtkkegp vasppfmdle qavlpavipk kekpelseps hlngpssdpe
     1921 aaflsrdvdd gsgsphsphq lsskslpsqn lsqslsnsfn ssymssdnes diededlkle
     1981 lrrlrdkhlk eiqdlqsrqk heieslytkl gkvppaviip paaplsgrrr rptkskgsks
     2041 srssslgnks pqlsgnlsgq saasvlhpqq tlhppgnipe sgqnqllqpl kpspssdnly
     2101 saftsdgais vpslsapgqg tsstntvgat vnsqaaqaqp pamtssrkgt ftddlhklvd
     2161 nwardamnls grrgskghmn yegpgmarkf sapgqlcism tsnlggsapi saasatslgh
     2221 ftksmcppqq ygfpatpfga qwsgtggpap qplgqfqpvg taslqnfnis nlqksisnpp
     2281 gsnlrtt
//
LOCUS       XP_054229234            2769 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 290 kDa isoform X1 [Homo sapiens].
ACCESSION   XP_054229234
VERSION     XP_054229234.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373259.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2769
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2769
                     /product="centrosomal protein of 290 kDa isoform X1"
                     /calculated_mol_wt=323412
     CDS             1..2769
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /coded_by="XM_054373259.1:155..8464"
                     /db_xref="GeneID:80184"
                     /db_xref="HGNC:HGNC:29021"
                     /db_xref="MIM:610142"
ORIGIN      
        1 mppninwkei mkvdpddlpr qeeladnlli slskvevnel ksekqenvih lfritqslmk
       61 mkaqevelal eevekageeq akfenqlktk vmklenelem aqqsaggrdt rflrneicql
      121 ekqleqkdre ledmekelek ekkvneqlal rneeaenens klrrenkrlk kkneqlcqdi
      181 idyqkqidsq ketllsrrge dsdyrsqlsk knyeliqyld eiqtlteane kievqnqemr
      241 knleesvqem ekmtdeynrm kaivhqtdnv idqlkkendh yqlqvqeltd llkskneedd
      301 pimvavnakv eewklilssk ddeiieyqqm lhnlreklkn aqldadksnv malqqgiqer
      361 dsqikmlteq veqytkemek ntciiedlkn elqrnkgast lsqqthmkiq stldilkekt
      421 keaertaela eadarekdke lvealkrlkd yesgvygled avveiknckn qikirdreie
      481 iltkeinkle lkisdflden ealrervgle pktmidltef rnskhlkqqq yraenqillk
      541 eiesleeerl dlkkkirqma qergkrsats glttedlnlt enisqgdris erkldllslk
      601 nmseaqskir ssdkaellhr rssfntpqsd qneteenmti gslsrmlsei hhsvesgmhp
      661 fvpltrlsss mqvkenstpe titireifka pclqssrnle slvstfsres heeindiclf
      721 sddcmkkvsr shqalektsf vqksnssfhg lstasdimqk lslrqksaif cqqihenrad
      781 mdksqvatle eeqvhsqvky adinlkedii ksevplqtei lknklkvnlp dpvsitaqsk
      841 lsqinslenl ieqlrrelvf lrsqneiiaq eflikeaecr nadielehhr sqaeqnefls
      901 reliekerdl ersrtviakf qnklkelvee nkqleegmke ilqaikemqk dpdvkggets
      961 liipslerlv naiesknaeg ifdaslhlka qvdqltgrne elrqelresr keainysqql
     1021 akanlkidhl eketsllrqs egsnvvfkgi dlpdgiapss asiinsqney lihllqelen
     1081 kekklknled sledynrkfa virhqqslly keylseketw ktesktikee krkledqvqq
     1141 daikvkeynn llnalqmdsd emkkilaens rkitvlqvne kslirqyttl velerqlrke
     1201 nekqknells meaevcekig clqrfkemai fkiaalqkvv dnsvslsele lankqynelt
     1261 akyrdilqkd nmlvqrtsnl ehlecenisl keqvesinke leitkeklht ieqaweqetk
     1321 lgnessmdka kksitnsdiv siskkitmle mkelnerqra ehcqkmyehl rtslkqmeer
     1381 nfeletkfae ltkinldaqk veqmlrdela dsvskavsda drqrilelek nemelkvevs
     1441 klreisdiar rqveilnaqq qsrdkevesl rmqlldyqaq sdeksliakl hqhnvslqls
     1501 eatalgkles itsklqkmea ynlrleqkld ekeqalyyar legrnrakhl rqtiqslrrq
     1561 fsgalplaqq ekfsktmiql qndklkimqe mknsqqehrn menktlemel klkgleelis
     1621 tlkdtkgaqk vinwhmkiee lrlqelklnr elvkdkeeik ylnniiseye rtissleeei
     1681 vqqnkfheer qmawdqrevd lerqldifdr qqneilnaaq kfeeatgsip dpslplpnql
     1741 eialrkiken iriiletrat cksleeklke kesalrlaeq nilsrdkvin elrlrlpata
     1801 erekliaelg rkemepkshh tlkiahqtia nmqarlnqke evlkkyqrll ekareeqrei
     1861 vkkheedlhi lhhrlelqad sslnkfkqta wdlmkqsptp vptnkhfirl aemeqtvaeq
     1921 ddslssllvk lkkvsqdler qreitelkvk efeniklqlq enhedevkkv kaevedlkyl
     1981 ldqsqkesqc lkselqaqke ansraptttm rnlverlksq lalkekqqka lsrallelra
     2041 emtaaaeeri isatsqkeah lnvqqivdrh trelktqved lnenllklke alktsknren
     2101 sltdnlndln nelqkkqkay nkilrekeei dqendelkrq ikrltsglqg kpltdnkqsl
     2161 ieelqrkvkk lenqlegkve evdlkpmkek nakeelirwe egkkwqakie girnklkeke
     2221 gevftltkql ntlkdlfaka dkekltlqrk lkttgmtvdq vlgiralese keleelkkrn
     2281 ldlendilym rahqalprds vvedlhlqnr ylqeklhale kqfskdtysk psqnqisgie
     2341 sddhcqreqe lqkenlklss enielkfqle qankdlprlk nqvrdlkemc eflkkekaev
     2401 qrklghvrgs grsgktipel ektiglmkkv vekvqreneq lkkasgilts ekmanieqen
     2461 eklkaelekl kahlghqlsm hyesktkgte kiiaenerlr kelkketdaa eklriaknnl
     2521 eilnekmtvq leetgkrlqf aesrgpqleg adskswksiv vtrmyetklk eletdiakkn
     2581 qsitdlkqlv keatereqkv nkynedleqq ikilkhvpeg aeteqglkre lqvlrlanhq
     2641 ldkekaelih qieankdqsg aestipdadq lkekikdlet qlkmsdlekq hlkeeikklk
     2701 kelenfdpsf feeiedlkyn ykeevkknil leekvkklse qlgveltspv aaseefedee
     2761 espvnfpiy
//
LOCUS       XP_054230409            4538 aa            linear   PRI 20-MAR-2023
DEFINITION  sacsin isoform X8 [Homo sapiens].
ACCESSION   XP_054230409
VERSION     XP_054230409.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374434.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4538
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..4538
                     /product="sacsin isoform X8"
                     /calculated_mol_wt=516325
     CDS             1..4538
                     /gene="SACS"
                     /gene_synonym="ARSACS; DNAJC29; PPP1R138; SPAX6"
                     /coded_by="XM_054374434.1:36..13652"
                     /db_xref="GeneID:26278"
                     /db_xref="HGNC:HGNC:10519"
                     /db_xref="MIM:604490"
ORIGIN      
        1 mrippsrpar glwtrwvpvt vlpgcvgcrt vaalaswtvr dvkerifaet gfpvseqrlw
       61 rggrelsdwi kigdltsknc hlfvnlqskg lkgggrfgqt tpplvdflkd ilrrypeggq
      121 ilkeliqnae dagatevkfl ydetqygtet lwskdmapyq dvpcifsgdq igmldphqtl
      181 fgphesgqcw nlkddskeis elsdqfapfv gifgstketf ingnfpgtff rfplrlqpsq
      241 lssnlynkqk vlelfesfra dadtvllflk svqdvslyvr eadgteklvf rvtsseskal
      301 kherpnsiki lgtaisnyck ktpsnnitcv tyhvnivlee estkdaqkts wlvcnsvggr
      361 gisskldsla delkfvpiig iamplssrdd eakgatsdfs gkafcflplp pgeesstglp
      421 vhisgffglt dnrrsikwre ldqwrdpaal wneflvmnvv pkayatlild sikrlemeks
      481 sdfplsvdvi yklwpeaskv kvhwqpvlep lfsellqnav iysiscdwvr leqvyfseld
      541 enleytktvl nylqssgkqi akvpgnvdaa vqltaasgtt pvrkvtpawv rqvlrkcahl
      601 gcaeeklhll efvlsdqays ellglellpl qngnfvpfss svsdqdviyi tsaeyprslf
      661 pslegrfild nlkphlvaal keaaqtrgrp ctqlqllnpe rfarlikevm ntfwpgreli
      721 vqwypfdenr nhpsvswlkm vwknlyihfs edltlfdemp liprtileeg qtcvelirlr
      781 ipslvildde seaqlpefla divqklggfv lkkldasiqh plikkyihsp lpsavlqime
      841 kmplqklcnq itsllpthkd alrkflaslt dssekekrii qelaifkrin hssdqgissy
      901 tklkgckvlh htaklpadlr lsisvidssd eatirlanml kieqlkttsc lklvlkdien
      961 afysheevtq lmlwvlenls slknenpnvl ewltplkfiq isqeqmvsag elfdpdievl
     1021 kdlfcneegt yfppsvftsp dilhslrqig lkneaslkek dvvqvakkie alqvgacpdq
     1081 dvllkkaktl llvlnknhtl lqssegkmtl kkikwvpack erppnypgsl vwkgdlcnlc
     1141 appdmcdvgh ailigsslpl vesihvnlek algiftkpsl savlkhfkiv vdwyssktfs
     1201 dedyyqfqhi lleiygfmhd hlnegkdsfr alkfpwvwtg kkfcplaqav ikpihdldlq
     1261 pylhnvpktm akfhqlfkvc gsieeltsdh ismviqkiyl ksdqdlseqe skqnlhlmln
     1321 iirwlysnqi paspntpvpi hhsknpskli mkpiheccyc dikvddlndl ledsvepiil
     1381 vhedipmkta ewlkvpclst rlinpenmgf eqsgqreplt vriknileey psvsdifkel
     1441 lqnaddanat ecsflidmrr nmdirenlld pgmaachgpa lwsfnnsqfs dsdfvnitrl
     1501 geslkrgevd kvgkfglgfn svyhitdipi imsrefmimf dpninhiskh ikdksnpgik
     1561 inwskqqkrl rkfpnqfkpf idvfgcqlpl tveapysyng tlfrlsfrtq qeakvsevss
     1621 tcyntadiys lvdefslcgh rliiftqsvk smylkylkie etnpslaqdt viikkkscss
     1681 kalntpvlsv lkeaaklmkt csssnkklps depksscilq itveefhhvf rriadlqspl
     1741 frgpdddpaa lfemaksgqs kkpsdelsqk tvecttwllc tcmdtgealk fslsesgrrl
     1801 glvpcgavgv qlseiqdqkw tvkphigevf cylplriktg lpvhingcfa vtsnrkeiwk
     1861 tdtkgrwntt fmrhvivkay lqvlsvlrdl atsgelmdyt yyavwpdpdl vhddfsvicq
     1921 gfyediahgk gkeltkvfsd gstwvsmknv rflddsilkr rdvgsaafki flkylkktgs
     1981 knlcavelps svklgfeeag ckqillentf sekqffsevf fpniqeieae lrdplmifvl
     2041 nekvdefsgv lrvtpcipcs leghplvlps rlihpegrva klfdikdgrf pygstqdyln
     2101 piiliklvql gmakddilwd dmleravsva einksdhvaa clrssillsl ideklkirdp
     2161 rakdfaakyq tirflpfltk pagfsldwkg nsfkpetmfa atdlytaehq divcllqpil
     2221 nenshsfrgc gsvslavkef lgllkkptvd lvinqlkeva ksvddgitly qenitnacyk
     2281 ylhealmqne itkmsiidkl kpfsfilven ayvdsekvsf hlnfeaapyl yqlpnkyknn
     2341 frelfetvgv rqsctvedfa lvlesidqer gtkqiteenf qlcrriiseg iwslirekkq
     2401 efceknygki llpdtnlmll pakslcyndc pwikvkdttv kychadipre vavklgavpk
     2461 rhkaleryas nvcfttlgte fgqkekltsr iksilnayps ekemlkellq naddakatei
     2521 cfvfdprqhp vdrifddkwa plqgpalcvy nnqpfteddv rgiqnlgkgt kegnpyktgq
     2581 ygigfnsvyh itdcpsfisg ndilcifdph aryapgatsi spgrmfrdld adfrtqfsdv
     2641 ldlylgthfk ldnctmfrfp lrnaemakvs eissvpasdr mvqnlldklr sdgaellmfl
     2701 nhmekisice idkstgalnv lysvkgkitd gdrlkrkqfh asvidsvtkk rqlkdipvqq
     2761 itytmdteds egnlttwlic nrsgfssmek vsksvisahk nqditlfprg gvaacithny
     2821 kkphrafcfl plsletglpf hvnghfalds arrnlwrddn gvgvrsdwnn slmtaliapa
     2881 yvelliqlkk ryfpgsdptl svlqntpihv vkdtlkkfls ffpvnrldlq pdlyclvkal
     2941 yncihedmkr llpvvrapni dgsdlhsavi itwinmstsn ktrpffdnll qdelqhlkna
     3001 dynittrktv aenvyrlkhl lleigfnlvy ncdetanlyh clidadipvs yvtpadirsf
     3061 lmtfsspdtn chigklpcrl qqtnlklfhs lkllvdycfk daeeneieve glpllitlds
     3121 vlqtfdakrp kflttyheli psrkdlfmnt lylkysnill nckvakvfdi ssfadllssv
     3181 lpreyktksc tkwkdnfase swlknawhfi sesvsvkedq eetkptfdiv vdtlkdwall
     3241 pgtkftvsan qlvvpegdvl lplslmhiav fpnaqsdkvf halmkagciq lalnkicskd
     3301 safvpllsch taniesptsi lkalhymvqt stfraeklve ndfeallmyf ncnlnhlmsq
     3361 ddikilkslp cyksisgryv sigkfgtcyv ltksipsaev ekwtqssssa fleekihlke
     3421 lyevigcvpv ddlevylkhl lpkienlsyd aklehliylk nrlssaeels eikeqlfekl
     3481 eslliihdan srlkqakhfy drtvrvfevm lpeklfipnd ffkkleqlik pknhvtfmts
     3541 wveflrnigl kyilsqqqll qfakeisvra ntenwsketl qntvdillhh ifqermdlls
     3601 gnflkelsli pflcperapa efirfhpqyq evngtlplik fngaqvnpkf kqcdvlqllw
     3661 tscpilpeka tplsikeqeg sdlgpqeqle qvlnmlnvnl dppldkvinn crnicnittl
     3721 deemvktrak vlrsiyefls aekrefrfql rgvafvmved gwkllkpeev vinleyesdf
     3781 kpylyklple lgtfhqlfkh lgtediistk qyvevlsrif knsegkqldp nemrtvkrvv
     3841 sglfrslqnd svkvrsdlen vrdlalylps qdgrlvkssi lvfddaphyk sriqgnigvq
     3901 mlvdlsqcyl gkdhgfhtkl imlfpqklrp rllssileeq ldeetpkvcq fgalcslqgr
     3961 lqlllsseqf itglirimkh endnaflane ekairlckal reglkvscfe klqttlrvkg
     4021 fnpiphsrse tfaflkrfgn avillyiqhs dskdinflla lamtlksatd nlisdtsyli
     4081 amlgcndiyr igekldslgv kydssepskl elpmpgtpip aeihytllmd pmnvfypgey
     4141 vgylvdaegg diygsyqpty tyaiivqeve redadnssfl gkiyqidigy seykivssld
     4201 lykfsrpees sqsrdsapst ptsptefltp glrsipplfs greshktssk hqspkklkvn
     4261 slpeilkevt svveqawklp eserkkiirr lylkwhpdkn penhdianev fkhlqneinr
     4321 lekqafldqn adrasrrtfs tsasrfqsdk ysfqrfytsw nqeatshkse rqqqnkekcp
     4381 psagqtysqr ffvpptfksv gnpvearrwl rqaranfsaa rndlhknane wvcfkcylst
     4441 klaliaadya vrgksdkdvk ptalaqkiee ysqqlegltn dvhtleaygv dslktrypdl
     4501 lpfpqipndr ftsevamrvm ectaciiikl enfmqqkv
//
LOCUS       XP_054231029             375 aa            linear   PRI 20-MAR-2023
DEFINITION  cytidine and dCMP deaminase domain-containing protein 1 isoform X3
            [Homo sapiens].
ACCESSION   XP_054231029
VERSION     XP_054231029.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375054.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..375
                     /product="cytidine and dCMP deaminase domain-containing
                     protein 1 isoform X3"
                     /calculated_mol_wt=42884
     CDS             1..375
                     /gene="CDADC1"
                     /gene_synonym="bA103J18.1; NYD-SP15"
                     /coded_by="XM_054375054.1:275..1402"
                     /db_xref="GeneID:81602"
                     /db_xref="HGNC:HGNC:20299"
                     /db_xref="MIM:618997"
ORIGIN      
        1 mhgragvnri sywpadpeis llteasssed akldakaver lksnsrahvc vllqplvcym
       61 vqfveetsyk cdfiqkitkt lpdantdfyy eckqerikey emlflvsnee mhkqilmtig
      121 lenlcenpyf snlrqnmkdl illlatvass vpnfkhfgfy rsnpeqinei hnqslpqeia
      181 rhcmvqarll ayrtedhktg vgaviwaegk srscdgtgam yfvgcgynaf pvgseyadfp
      241 hmddkqkdre irkfryiiha eqnaltfrcq eikpeersmi fvtkcpcdec vplikgagik
      301 qiyagdvdvg kkkadisymr fgelegvskf twqlnpsgay gleqneperr engvlrpvpq
      361 keeqhqdkkl rlgih
//
LOCUS       XP_054232641             543 aa            linear   PRI 20-MAR-2023
DEFINITION  TNF receptor-associated factor 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054232641
VERSION     XP_054232641.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376666.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..543
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..543
                     /product="TNF receptor-associated factor 3 isoform X2"
                     /calculated_mol_wt=61629
     CDS             1..543
                     /gene="TRAF3"
                     /gene_synonym="CAP-1; CAP1; CD40bp; CRAF1; IIAE5; LAP1;
                     RNF118"
                     /coded_by="XM_054376666.1:14974..16605"
                     /db_xref="GeneID:7187"
                     /db_xref="HGNC:HGNC:12033"
                     /db_xref="MIM:601896"
ORIGIN      
        1 messkkmdsp galqtnpplk lhtdrsagtp vfvpeqggyk ekfvktvedk ykcekchlvl
       61 cspkqtecgh rfcescmaal lsssspkcta cqesivkdkv fkdncckrei lalqiycrne
      121 srgcaeqlml ghllvhlknd chfeelpcvr pdckekvlrk dlrdhvekac kyreatcshc
      181 ksqvpmialq khedtdcpcv vvscphkcsv qtllrsegtn qqikaheass avqhvnllke
      241 wsnslekkvs llqnesvekn ksiqslhnqi csfeieierq kemlrnnesk ilhlqrvids
      301 qaeklkeldk eirpfrqnwe eadsmkssve slqnrvtele svdksagqva rntgllesql
      361 srhdqmlsvh dirladmdlr fqvletasyn gvliwkirdy krrkqeavmg ktlslysqpf
      421 ytgyfgykmc arvylngdgm gkgthlslff vimrgeydal lpwpfkqkvt lmlmdqgssr
      481 rhlgdafkpd pnsssfkkpt gemniasgcp vfvaqtvlen gtyikddtif ikvivdtsdl
      541 pdp
//
LOCUS       XP_054233462             686 aa            linear   PRI 20-MAR-2023
DEFINITION  protein 4.2 isoform X3 [Homo sapiens].
ACCESSION   XP_054233462
VERSION     XP_054233462.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377487.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..686
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..686
                     /product="protein 4.2 isoform X3"
                     /calculated_mol_wt=75867
     CDS             1..686
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /coded_by="XM_054377487.1:194..2254"
                     /db_xref="GeneID:2038"
                     /db_xref="HGNC:HGNC:3381"
                     /db_xref="MIM:177070"
ORIGIN      
        1 mgqgepsqrs tglaglyaap aaspvfikgs gmdalgiksc dfqaarnnee hhtkalssrr
       61 lfvrrgqpft iilyfrapvr aflpalkkva ltaqtgeqps kinrtqatfp isslgdrkww
      121 savveerdaq swtisvttpa davighysll lqvsgrkqll lgqftllfnp wnredavflk
      181 neaqrmeyll nqngliylgt adciqaeswd fgqlhflkeq rvlptpqtqa tqegallnkr
      241 rgsvpilrqw ltgrgrpvyd gqawvlaava ctvlrclgip arvvttfasa qgtggrllid
      301 eyyneeglqn gegqrgriwi fqtstecwmt rpalpqgydg wqilhpsapn gggvlgscdl
      361 vpvravkegt lgltpavsdl faainascvv wkccedgtle ltdsntkyvg nnistkgvgs
      421 drceditqny kypegslqek evlervekek merekdngir ppsletaspl ylllkapssl
      481 plrgdaqisv tlvnhseqek avqlaigvqa vhyngvlaak lwrkklhltl sanlekiiti
      541 glffsnfern ppentflrlt amathsesnl scfaqediai crphlaikmp ekaeqyqplt
      601 asvslqnsld apmedcvisi lgrglihrer syrfrsvwpe ntmcakfqft pthvglqrlt
      661 vevdcnmfqn ltnyksvtvv apelsa
//
LOCUS       XP_054233590            1406 aa            linear   PRI 20-MAR-2023
DEFINITION  MAX gene-associated protein isoform X31 [Homo sapiens].
ACCESSION   XP_054233590
VERSION     XP_054233590.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377615.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1406
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1406
                     /product="MAX gene-associated protein isoform X31"
                     /calculated_mol_wt=157180
     CDS             1..1406
                     /gene="MGA"
                     /gene_synonym="MAD5; MXD5"
                     /coded_by="XM_054377615.1:189..4409"
                     /db_xref="GeneID:23269"
                     /db_xref="HGNC:HGNC:14010"
                     /db_xref="MIM:616061"
ORIGIN      
        1 meekqqiila nqdggtvaga aptffvilkq pgngktdqgi lvtnqdacal assvsspvks
       61 kgkiclpadc tvggitvtld nnsmwnefyh rstemiltkq grrmfpycry witgldsnlk
      121 yilvmdispv dnhrykwngr wwepsgkaep hvlgrvfihp espstghywm hqpvsfyklk
      181 ltnntldqeg hiilhsmhry lprlhlvpae kaveviqlng pgvhtftfpq teffavtayq
      241 niqitqlkid ynpfakgfrd dglnnkpqrd gkqknssdqe gnnissssgh rvrltegqgs
      301 eiqpgdldpl srghetsgkg lektslnikr dflgfmdtds alsevpqlkq eisecliass
      361 feddsrvasp ldqngsfnvv ikeeplddyd yelgecpegv tvkqeetdee tdvysnsddd
      421 pilekqlkrh nkvdnpeadh lsskwlpssp sgvakakmfk ldtgkmpvvy lepcavtrst
      481 vkiselpdnm lstsrkdkss mlaeleylpt yiensnetaf clgkesengl rkhspdlrvv
      541 qkypllkepq wkypdisdsi sterilddsk dsvgdslsgk edlgrkrttm lkiataakvv
      601 nanqnaspnv pgkrgrprkl klckagrppk ntgkslistk ntpvspgstf pdvkpdledv
      661 dgvlfvsfes kealdihavd gtteessslq asttndsgyr arisqlekel iedlkslrhk
      721 qvihpglqev glklnsvdpt msidlkylgv qlplapatsf pfwnltgtnp aspdagfpfv
      781 srtgktndft kikgwrgkfh sasasrnegg nsesslknrs afcsdkldey lenegklmet
      841 smgfssnapt spvvyqlptk stsyvrtlds vlkkqstisp stsyslkphs vppvsrkaks
      901 qnrqatfsgr tkssyksilp ypvspkqkys hvilgdkvtk nssgiisenq annfvvptld
      961 enifpkqisl rqaqqqqqqq qgsrppglsk sqvklmdled calwegkprt yiteeradvs
     1021 lttlltaqas lktkpihtii rkrappcnnd fcrlgcvcss lalekrqpah crrpdcmfgc
     1081 tclkrkvvlv kggsktkhfq rkaahrdpvf ydtlgeeare eeegireeee qlkekkkrkk
     1141 leyticetep eqpvrhyplw vkvegevdpe pvyiptpsvi epmkplllpq pevlsptvkg
     1201 klltgikspr sytpkpnpvi reedkdpvyl yfesmmtcar vrvyerkked qrqpsssssp
     1261 spsfqqqtsc hsspenhnna kepdseqqpl kqltcdledd sdklqekswk sscnegesss
     1321 tsymhqrspg gptklieiis dcnweedrnk ilsilsqhin snmpqslkhp mprwlhpgnh
     1381 vpcclqhpip kwhpplalqq ialgri
//
LOCUS       XP_054234579             683 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor for retinol uptake STRA6 isoform X1 [Homo sapiens].
ACCESSION   XP_054234579
VERSION     XP_054234579.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378604.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..683
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..683
                     /product="receptor for retinol uptake STRA6 isoform X1"
                     /calculated_mol_wt=75243
     CDS             1..683
                     /gene="STRA6"
                     /gene_synonym="MCOPCB8; MCOPS9; PP14296"
                     /coded_by="XM_054378604.1:370..2421"
                     /db_xref="GeneID:64220"
                     /db_xref="HGNC:HGNC:30650"
                     /db_xref="MIM:610745"
ORIGIN      
        1 mafffsrlgs kekgqrmssq pagnqtspga tedysygswy idepqggeel qpegevpsch
       61 tsippglyha claslsilvl lllamlvrrr qlwpdcvrgr pglpspvdfl agdrpravpa
      121 avfmvllssl clllpdedal pfltlasaps qdgkteaprg awkilglfyy aalyyplaac
      181 ataghtaahl lgstlswahl gvqvwqraec pqvpkiykyy sllaslplll glgflslwyp
      241 vqlvrsfsrr tgagskglqs syseeylrnl lcrkklgssy htskhgflsw arvclrhciy
      301 tpqpgfhlpl klvlsatltg taiyqvalll lvgvvptiqk vragvttdvs yllagfgivl
      361 sedkqevvel vkhhlwalev cyisalvlsc lltflvlmrs lvthrtnlra lhrgaaldls
      421 plhrsphpsr qaifcwmsfs ayqtaficlg llvqqiiffl gttalaflvl mpvlhgrnll
      481 lfrslesswp fwltlalavi lqnmaahwvf lethdghpql tnrrvlyaat fllfplnvlv
      541 gamvatwrvl lsalynaihl gqmdlsllpp raatldpgyy tyrnflkiev sqshpamtaf
      601 cslllqaqsl lprtmaapqd slrpgeedeg mqllqtkdsm akgarpgasr grarwglayt
      661 llhnptlqvf rktallgang aqp
//
LOCUS       XP_054235978             390 aa            linear   PRI 20-MAR-2023
DEFINITION  N-acetylgalactosamine-6-sulfatase isoform X6 [Homo sapiens].
ACCESSION   XP_054235978
VERSION     XP_054235978.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380003.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..390
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..390
                     /product="N-acetylgalactosamine-6-sulfatase isoform X6"
                     /calculated_mol_wt=43414
     CDS             1..390
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /coded_by="XM_054380003.1:502..1674"
                     /db_xref="GeneID:2588"
                     /db_xref="HGNC:HGNC:4122"
                     /db_xref="MIM:612222"
ORIGIN      
        1 mvgryyeefp inlktgeanl tqiylqeald fikrqarhhp fflywavdat hapvyaskpf
       61 lgtsqrgryg davreiddsi gkilellqdl hvadntfvff tsdngaalis apeqggsngp
      121 flcgkqttfe ggmrepalaw wpghvtagqv shqlgsimdl fttslalagl tppsdraidg
      181 lnllptllqg rlmdrpifyy rgdtlmastl gqhkahfwtw tnswenfrqg idfcpgqnvs
      241 gvtthnledh tklplifhlg rdpgerfpls fasaeyqeal sritsvvqqh qealvpaqpq
      301 lnvcnwavma ptqsstsvqp dktrpcsppv ekrphhasig qkhkhrrask vslksvfrpq
      361 rmrrrlvqpw gpqqsgplrs sfsvpclgvp
//
LOCUS       XP_054236085             514 aa            linear   PRI 20-MAR-2023
DEFINITION  carboxylesterase 4A isoform X13 [Homo sapiens].
ACCESSION   XP_054236085
VERSION     XP_054236085.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380110.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..514
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..514
                     /product="carboxylesterase 4A isoform X13"
                     /calculated_mol_wt=57579
     CDS             1..514
                     /gene="CES4A"
                     /gene_synonym="CES6; CES8"
                     /coded_by="XM_054380110.1:116..1660"
                     /db_xref="GeneID:283848"
                     /db_xref="HGNC:HGNC:26741"
ORIGIN      
        1 mpstvlpstv lpsllptaga gwsmrwilcw sltlclmaqt algalhtkrp qvvtkygtlq
       61 gkqmhvgktp iqvflgvpfs rpplgilrfa ppeppepwkg irdattyppg clqeswgqla
      121 smyvstrery kwlrfsedcl ylnvyapara pgdpqlpvmv wfpggafivg aassyegsdl
      181 aarekvvlvf lqhrlgifgf lstddsharg nwglldqmaa lrwvqeniaa fggdpgnvtl
      241 fgqsagamsi sglmmsplas glfhraisqs gtalfrlfit snplkvakkv ahlagcnhns
      301 tqilvnclra lsgtkvmrvs nkmrflqlnf qrdpeeiiws mspvvdgvvi pddplvlltq
      361 gkvssvpyll gvnnlefnwl lpynitkeqv plvveeyldn vnehdwkmlr nrmmdivqda
      421 tfvyatlqta hyhrglsmgk ekalslqmmk ywanfartgn pndgnlpcwp rynkdekylq
      481 ldfttrvgmk lkekkmafwm slyqsqrpek qrqf
//
LOCUS       XP_054170019             260 aa            linear   PRI 20-MAR-2023
DEFINITION  phagosome assembly factor 1 isoform X5 [Homo sapiens].
ACCESSION   XP_054170019
VERSION     XP_054170019.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314044.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..260
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..260
                     /product="phagosome assembly factor 1 isoform X5"
                     /calculated_mol_wt=28621
     CDS             1..260
                     /gene="PHAF1"
                     /gene_synonym="C16orf6; C16orf70; lin-10; LIN10"
                     /coded_by="XM_054314044.1:122..904"
                     /db_xref="GeneID:80262"
                     /db_xref="HGNC:HGNC:29564"
ORIGIN      
        1 mldlevvper slgneqweft lgmplaqava ilqkhcriik nvqvlyseqs plshdlilnl
       61 tqdgiklmfd afnqrlkvie vcdltkvklk ycgvhfnsqa iaptieqidq sfgathpgvy
      121 nsaeqlfhln frglsfsfql dswteapkye pnfahglasl qiphgatvkr myiysgnslq
      181 dtkapmmpls cflgnvyaes vdvlrdgtgp aglrlrllaa vleagkskik aladsvsgca
      241 cslvhrrnfs pyphmvqgas
//
LOCUS       XP_054170487            1462 aa            linear   PRI 20-MAR-2023
DEFINITION  intraflagellar transport protein 140 homolog isoform X1 [Homo
            sapiens].
ACCESSION   XP_054170487
VERSION     XP_054170487.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314512.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1462
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1462
                     /product="intraflagellar transport protein 140 homolog
                     isoform X1"
                     /calculated_mol_wt=165063
     CDS             1..1462
                     /gene="IFT140"
                     /gene_synonym="c305C8.4; c380F5.1; gs114; MZSDS; RP80;
                     SRTD9; WDTC2"
                     /coded_by="XM_054314512.1:1307..5695"
                     /db_xref="GeneID:9742"
                     /db_xref="HGNC:HGNC:29077"
                     /db_xref="MIM:614620"
ORIGIN      
        1 malyydhqie apdaagspsf iswhpvhpfl avayisttst gsvdiyleqg ecvpdthver
       61 pfrvaslcwh ptrlvlavgw etgevtvfnk qdkeqhtmpl thtaditvlr wspsgnclls
      121 gdrlgvlllw rldqrgrvqg tpllkheygk hlthcifrlp ppgedlvqla kaavsgdeka
      181 ldmfnwkkss sgsllkmgsh egllffvslm dgtvhyvdek gkttqvvsad stiqmlfyme
      241 krealvvvte nlrlslytvp pegkaeevmk vklsgktgrr adialiegsl lvmavgeaal
      301 rfwdiergen yilspdekfg fekgenmncv cyckvkglla agtdrgrvam wrkvpdflgs
      361 pgaegkdrwa lqtptelqgn itqiqwgsrk nllavnsvis vailserams shfhqqvaam
      421 qvspsllnvc flstgvahsl rtdmhisgvf atkdavavwn grqvaifels gaairsagtf
      481 lcetpvlamh eenvytvesn rvqvrtwqgt vkqlllfset egnpcfldic gnflvvgtdl
      541 ahfksfdlsr reakahcscr slaelvpgvg giaslrcsss gstisilpsk adnspdskic
      601 fydvemdtvt vfdfktgqid rretlsfneq etnkshlfvd eglknyvpvn hfwdqseprl
      661 fvceavqetp rsqpqsangq pqdgragpaa dvlilsffis eehgfllhes fprpatshsl
      721 lgmevpyyyf trkpeeadre devepgchhi pqmvsrrplr dfvgledcdk atrdamlhfs
      781 ffvtigdmde afksikliks eavwenmarm cvktqrldva kvclgnmgha rgaralreae
      841 qepelearva vlatqlgmle daeqlyrkck rhdllnkfyq aagrwqealq vaehhdrvhl
      901 rstyhryagh leasadcsra lsyyeksdth rfevprmlse dlpslelyvn kmkdktlwrw
      961 waqylesqge mdaalhyyel ardhfslvri hcfqgnvqka aqianetgnl aasyhlarqy
     1021 esqeevgqav hfytraqafk nairlckeng lddqlmnlal lsspedmiea aryyeekgvq
     1081 mdravmlyhk aghfskalel afatqqfval qliaedldet sdpallarcs dffiehsqye
     1141 ravelllaar kyqealqlcl gqnmsiteem aekmtvakds sdlpeesrre lleqiadccm
     1201 rqgsyhlatk kytqagnklk amrallksgd tekitffasv srqkeiyima anylqsldwr
     1261 kepeimknii gfytkgrald llagfydaca qveideyqny dkahgaltea ykclakakak
     1321 spldqetrla qlqsrmalvk rfiqarrtyt edpkesikqc ellleepdld stirigdvyg
     1381 flvehyvrke eyqtayrfle emrrrlplan msyyvspqav davhrglglp lprtvpeqvr
     1441 hnsmedarel deevveeadd dp
//
LOCUS       XP_054170958             315 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein Musashi homolog 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054170958
VERSION     XP_054170958.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314983.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..315
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..315
                     /product="RNA-binding protein Musashi homolog 2 isoform
                     X3"
                     /calculated_mol_wt=33281
     CDS             1..315
                     /gene="MSI2"
                     /gene_synonym="MSI2H"
                     /coded_by="XM_054314983.1:221..1168"
                     /db_xref="GeneID:124540"
                     /db_xref="HGNC:HGNC:18585"
                     /db_xref="MIM:607897"
ORIGIN      
        1 meangsqgts gsandsqhdp gkmfigglsw qtspdslrdy fskfgeirec mvmrdpttkr
       61 srgfgfvtfa dpasvdkvlg qphheldskt idpkvafprr aqpkvedaml mfdkttnrhr
      121 gfgfvtfene dvvekvceih fheinnkmve ckkaqpkevm fppgtrgrar glpytmdafm
      181 lgmgmlgypn fvatygrgyp gfapsygyqf pgfpaaaygp vaaaavaaar gsvlnsysaq
      241 pnfgapaspa gsnparpggf pganspgpva dlygpasqds gvgnyisaas pqpgsgfghg
      301 iasipgcpgk tgrsf
//
LOCUS       XP_054171694             213 aa            linear   PRI 20-MAR-2023
DEFINITION  B9 domain-containing protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054171694
VERSION     XP_054171694.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315719.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 19% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..213
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..213
                     /product="B9 domain-containing protein 1 isoform X1"
                     /calculated_mol_wt=23027
     CDS             1..213
                     /gene="B9D1"
                     /gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
                     /coded_by="XM_054315719.1:151..792"
                     /db_xref="GeneID:27077"
                     /db_xref="HGNC:HGNC:24123"
                     /db_xref="MIM:614144"
ORIGIN      
        1 mmtstastal ctartgppqr vwrrgshrsh prakmcgkhw cgtsplmspl kaptptaghr
       61 scsacmdqmc sgtmwfeamg pctcpshlag tkgpspclsq nlrlncrslq agswgggpst
      121 qtprwwlrvk agkvklppls ypyppyrlqp gsgwaqgwge crgparhiga spqmfpdegl
      181 vgaqrvchvc lsrqplylpv rglgqallsp fyr
//
LOCUS       XP_054172331             493 aa            linear   PRI 20-MAR-2023
DEFINITION  rap guanine nucleotide exchange factor-like 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054172331
VERSION     XP_054172331.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316356.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..493
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..493
                     /product="rap guanine nucleotide exchange factor-like 1
                     isoform X2"
                     /calculated_mol_wt=56467
     CDS             1..493
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /coded_by="XM_054316356.1:176..1657"
                     /db_xref="GeneID:51195"
                     /db_xref="HGNC:HGNC:17428"
ORIGIN      
        1 maikdilldd ivlthslflp tekflqelhq yfvraggmeg peglgrkqac lamllhfldt
       61 yqgllqeeeg aghiikdlyl limkdeslyq glredtlrlh qlvetvelki peenqppskq
      121 vkplfrhfrr idsclqtrva frgsdeifcr vympdhsyvt irsrlsasvq dilgsvtekl
      181 qyseepagre dslilvavss sgekvllqpt edcvftalgi nshlfactrd syealvplpe
      241 eiqvspgdte ihrvepedva nhltafhwel frcvhelefv dyvfhgergr retanlelll
      301 qrcsevthwv atevllceap gkraqllkkf ikiaalckqn qdllsfyavv mgldnaavsr
      361 lrltweklpg kfknlfrkfe nltdpcrnhk syreviskmk ppvipfvpli lkdltflheg
      421 sktlvdglvn ieklhsvaek vrtirkyrsr plcldmeasp nhlqtkayvr qfqvidnqnl
      481 lfelsyklea nsq
//
LOCUS       XP_054172563             154 aa            linear   PRI 20-MAR-2023
DEFINITION  putative ANKRD40 C-terminal-like protein isoform X1 [Homo sapiens].
ACCESSION   XP_054172563
VERSION     XP_054172563.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316588.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..154
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..154
                     /product="putative ANKRD40 C-terminal-like protein isoform
                     X1"
                     /calculated_mol_wt=16911
     CDS             1..154
                     /gene="ANKRD40CL"
                     /gene_synonym="C17orf73; LINC00483"
                     /coded_by="XM_054316588.1:70..534"
                     /db_xref="GeneID:55018"
                     /db_xref="HGNC:HGNC:26080"
ORIGIN      
        1 mgrrspfkpr nkvfgfsypw crsyqpfprk rawppsrvwl gaccaslasp pkgtipsgey
       61 yrpapsssgd slrresgall qylpslaspc anhatrcsll fpiykikmtl lyltglarth
      121 ccyladrcae avesafylvg slcinargaa hltd
//
LOCUS       XP_054172577             134 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 100 isoform X1 [Homo sapiens].
ACCESSION   XP_054172577
VERSION     XP_054172577.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316602.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..134
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..134
                     /product="transmembrane protein 100 isoform X1"
                     /calculated_mol_wt=14255
     CDS             1..134
                     /gene="TMEM100"
                     /coded_by="XM_054316602.1:588..992"
                     /db_xref="GeneID:55273"
                     /db_xref="HGNC:HGNC:25607"
                     /db_xref="MIM:616334"
ORIGIN      
        1 mteepikeil gapkahmaat mekspksevv ittvplvsei qlmaatggte lscyrciipf
       61 avvvfiagiv vtavaysfns hgsiisifgl vvlssglfll assalcwkvr qrskkakrre
      121 sqtalvanqr slfa
//
LOCUS       XP_054172677             234 aa            linear   PRI 20-MAR-2023
DEFINITION  5'(3')-deoxyribonucleotidase, mitochondrial isoform X5 [Homo
            sapiens].
ACCESSION   XP_054172677
VERSION     XP_054172677.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316702.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..234
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..234
                     /product="5'(3')-deoxyribonucleotidase, mitochondrial
                     isoform X5"
                     /calculated_mol_wt=26371
     CDS             1..234
                     /gene="NT5M"
                     /gene_synonym="dNT-2; dNT2; mdN"
                     /coded_by="XM_054316702.1:179..883"
                     /db_xref="GeneID:56953"
                     /db_xref="HGNC:HGNC:15769"
                     /db_xref="MIM:605292"
ORIGIN      
        1 mirlggwcar rlcsaavpag rrgaagglgl aggralrvlv dmdgvladfe ggflrkfrar
       61 fpdqpfiale drrgfwvseq ygrlrpglse kaisiweskn fffeleplpg aveavkemas
      121 lqntdvfict spikmfkycp yekyawveky fgpdfleqiv ltrdktvvsa dlliddrpdi
      181 tgkwpatgae ptpswehvlf tachnqhlql qpprrrlhsw addwkailds krpc
//
LOCUS       XP_054172723             863 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 624 isoform X2 [Homo sapiens].
ACCESSION   XP_054172723
VERSION     XP_054172723.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316748.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..863
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..863
                     /product="zinc finger protein 624 isoform X2"
                     /calculated_mol_wt=99557
     CDS             1..863
                     /gene="ZNF624"
                     /coded_by="XM_054316748.1:90..2681"
                     /db_xref="GeneID:57547"
                     /db_xref="HGNC:HGNC:29254"
ORIGIN      
        1 mslqdstlsr egkpegeima avffsvgrls pevtqpdedl hlqaeetqle svtfkdvaid
       61 ftleewrlmd ptqrnlhkdv mlenyrnlvs lglavskpdm ishlengkgp wvtvreisri
      121 pypdmepkpa tknatrtkai sedlsqeail ekltenglwd srmeglwkwn drilrlqnnq
      181 enhlsqriip lkktptsqrg frfesilipe pgiateelhs rcqtqeenft enlnlitdth
      241 lgkiickemk gskairqtse ltlgkksnnk ekpykcstce kafhyrslli qhqrthtkek
      301 pyecnecgkt fsqpsylsqh kkihtgekpy kcnecgkafi assslmvhqr ihtkekpyqc
      361 nvcgksfsqc arlnqhqriq tgekpykcse cgkafsdksk larhqethng ekpykcddcg
      421 kafrnksyls vhqkthteek pyqcnecgks fknttifnvh qrihtgekpf rcnecgkayr
      481 snsslivhir thtgekpyec necgkafnri anftehqrih tgekpykcne cgkafinysc
      541 ltvhhrmhtg ekpykctecg kafmrsssli ihqrihteek pylcnecges frikshltvh
      601 qrihtgekpy kctdceraft kmvnlkehqk ihtgvkpykc ydcgksfrtk sylivhqrth
      661 tgekpykcne cekaftntsq ltvhqrrhtg ekpykcnecg kvftsnsgfn thqrthtgek
      721 pfkcndcgka fsqmvhvteh qkihsgekpy kcdvcgkafr rgsyltvhwr thtgekpytc
      781 kecgkgcitl sqltlhqrih tgerpykcee cgkafrtnsd ftvhlrmhtg ekpykcnecg
      841 kafrsssslt vhqrihqret qli
//
LOCUS       XP_054173093             483 aa            linear   PRI 20-MAR-2023
DEFINITION  homologous recombination OB-fold protein isoform X28 [Homo
            sapiens].
ACCESSION   XP_054173093
VERSION     XP_054173093.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317118.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..483
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..483
                     /product="homologous recombination OB-fold protein isoform
                     X28"
                     /calculated_mol_wt=51924
     CDS             1..483
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP"
                     /coded_by="XM_054317118.1:759..2210"
                     /db_xref="GeneID:78995"
                     /db_xref="HGNC:HGNC:28460"
                     /db_xref="MIM:618611"
ORIGIN      
        1 meleepgmel ecgvsseaip ilpaqqregs vlakkarvvd lsgscqkgpv paihkagims
       61 aqdesldpvi qcrtprpplr pgavghlpvp taltvptqql hwevcpqrsp vqalqplqaa
      121 rgtiqsspqn rfpcqpfqsp sswlsgkahl prprtpnssc stpsrtssgl fpriplqpqa
      181 pvssigspvg tpkgpqgalq tpivtnhlvq lvtaasrtpq qpthpstrak trrfpgpagi
      241 lphqqsgrsl edimvsapqt pthgalakfq teivassqas veedfgrgpw ltmkstlgld
      301 erdpscflct ysivmvlrkq aalkqlprnk vpnmavmiks ltrstmdasv vfkdptgemq
      361 gtvhrlllet cqnelkpgsv lllkqigvfs pslrnhylnv tpnnlvhiys pdsgdgsflk
      421 psqpfpkdsg sfqhdvaakp eegfrtaqnl eaeaspeeel peaddldgll selpedffcg
      481 tss
//
LOCUS       XP_054174492            1437 aa            linear   PRI 20-MAR-2023
DEFINITION  SET-binding protein isoform X5 [Homo sapiens].
ACCESSION   XP_054174492
VERSION     XP_054174492.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318517.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1437
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1437
                     /product="SET-binding protein isoform X5"
                     /calculated_mol_wt=157734
     CDS             1..1437
                     /gene="SETBP1"
                     /gene_synonym="MRD29; SEB"
                     /coded_by="XM_054318517.1:93981..98294"
                     /db_xref="GeneID:26040"
                     /db_xref="HGNC:HGNC:15573"
                     /db_xref="MIM:611060"
ORIGIN      
        1 mfglltasdl aasdlkgfqp qayerpqkhs tlhydtglpq dftgdtlkpk hqqksssqnh
       61 mdwstnsdsg pvtqncfisp esgretasts kipalepvas fakaqgkkgs agntwsqlsn
      121 nnkdlllggv apspsshssp appsssaecn glqplvdqdg ggtkeppepp tvgskkkssk
      181 kdvisqtipn pdldwvknaq kafdntegkr egysadsaqe asparqnvss asnpendssh
      241 vritipikap sldptnhkrk krqsikavve kimpekalas gitmssevvn rilsnsegnk
      301 kdprvpklsk mienespsvg letggnaekv ipggvskprk ppmvmtpptc tdhspsrklp
      361 eiqhpkfaak rrwtcskpkp stmlreavma tsdklmlepp saypitpssp lytntdsltv
      421 itpvkkkrgr pkkqplltve tihegtstsp vspisrefpg tkkrkrrrnl aklaqlvpge
      481 dkpmsemkfh kkvgklgvld kktiktinkm ktlkrkniln qilscsssva lkakappets
      541 pgaaaieskl gkqinvskrg tiyigkkrgr kpraelppps eepktaikhp rpvssqpdvp
      601 avpsnfqslv asspaamhpl stqlggsngn lspastetnf selktmpnlq pisalptktq
      661 kgihsgtwkl spprlmansp shlceigslk eitlspvses hseetipsds gigtdnnsts
      721 dqaekssesr rrysfdfcsl dnpeaipsdt stknrhghrq khlivdnfla heslkkpkhk
      781 rkrkslqnrd dlqfladlee litkfqvfri shrsytfyhe npypsifrin fdhyypvpyi
      841 qydpllylrr tsdlkskkkr grpaktndtm tkvpflqgfs ypipsgsyya pygmpytsmp
      901 mmnlgyygqy paplylshtl gaaspfmrpt vpppqfhtns hvkmsgaakh kakhgvhlqg
      961 pvsmglgdmq pslnppkvgs aslssgrlhk rkhkhkhkhk edrilgthdn lsglfagkat
     1021 gfsshilser lssadkelpl vseknkhkek qkhqhseagh kasknnfevd tlstlslsda
     1081 qhwtqakekg dlssepvdsc tkrysgsggd ggstrsenld vfsemnpsnd kwdsdvsgsk
     1141 rrsyegfgty rekdiqafkm nrkerssyds smspgmpsph lkvdqtavhs knegsvptmm
     1201 trkkpaavds vtippapvls llaasaatsd avgsslkkrf krreieaiqc evrkmcnytk
     1261 ilstkknldh vnkilkakrl qrqsktgnnf vkkrrgrprk qptqfdedsr dqmpvlekci
     1321 dlpskrgqkp slsplvlepa asqdtimati eavihmarea pplppppppp lppppppplp
     1381 pppplpktpr ggkrkhkpqa paqppqqspp qqplpqeeev kakrqrksrg sesevlp
//
LOCUS       XP_054177149             213 aa            linear   PRI 20-MAR-2023
DEFINITION  testicular haploid expressed gene protein isoform X6 [Homo
            sapiens].
ACCESSION   XP_054177149
VERSION     XP_054177149.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321174.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..213
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..213
                     /product="testicular haploid expressed gene protein
                     isoform X6"
                     /calculated_mol_wt=24630
     CDS             1..213
                     /gene="THEG"
                     /gene_synonym="CT56; THEG1"
                     /coded_by="XM_054321174.1:57..698"
                     /db_xref="GeneID:51298"
                     /db_xref="HGNC:HGNC:13706"
                     /db_xref="MIM:609503"
ORIGIN      
        1 mgdsrrrslg nqpsseaagr sereqdgdpr glqssvyesr rvtdperqdl dnaelgpedp
       61 eeelppeeva geefpetldp kealselerv ldkdleedip eisrlsisqk lpsttmtkar
      121 krrrrrrlme laepkinwqv lkdrkgrcgk gyawispckm slhfclcwps vywterfled
      181 ttltitvpav srrveelsrp krfyleyynn nsv
//
LOCUS       XP_054177296             634 aa            linear   PRI 20-MAR-2023
DEFINITION  transcriptional repressor p66-alpha isoform X5 [Homo sapiens].
ACCESSION   XP_054177296
VERSION     XP_054177296.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321321.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..634
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..634
                     /product="transcriptional repressor p66-alpha isoform X5"
                     /calculated_mol_wt=68003
     CDS             1..634
                     /gene="GATAD2A"
                     /gene_synonym="p66alpha"
                     /coded_by="XM_054321321.1:659..2563"
                     /db_xref="GeneID:54815"
                     /db_xref="HGNC:HGNC:29989"
                     /db_xref="MIM:614997"
ORIGIN      
        1 mteeacrtrs qkralerdpt eddveskkik mergllasdl ntdgdmrvtp epgagptqgl
       61 lrateatama mgrgeglvgd gpvdmrtshs dmkserrpps pdvivlsdne qpssprvngl
      121 ttvalketst ealmksspee rermikqlke elrleeaklv llkklrqsqi qkeataqkpt
      181 gsvgstvttp pplvrgtqni pagkpslqts sarmpgsvip pplvrggqqa ssklgpqass
      241 qvvmpplvrg aqqihsirqh sstgppplll aprasvpsvq iqgqriiqqg lirvanvpnt
      301 sllvnipqpt paslkgttat saqanstpts vasvvtsaes pasrqaaakl alrkqlektl
      361 leipppkppa pemnflpsaa nnefiylvgl eevvqnllet qagrmsaatv lsrepymcaq
      421 cktdftcrwr eeksgaimce ncmttnqkka lkvehtsrlk aafvkalqqe qeieqrllqq
      481 gtapaqakae ptaaphpvlk qvikprrkla frsgeardws ngavlqassq lsrgsattpr
      541 gvlhtfspsp klqnsasata lvsrtgrhse rtvsagkgsa tsnwkktpls tggtlafvsp
      601 slavhksssa vdrqreylld mipprsipqs atwk
//
LOCUS       XP_054177321             163 aa            linear   PRI 20-MAR-2023
DEFINITION  PIH1 domain-containing protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054177321
VERSION     XP_054177321.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321346.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..163
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..163
                     /product="PIH1 domain-containing protein 1 isoform X3"
                     /calculated_mol_wt=18544
     CDS             1..163
                     /gene="PIH1D1"
                     /gene_synonym="DNAAF14; MOT48; NOP17; Pih1"
                     /coded_by="XM_054321346.1:163..654"
                     /db_xref="GeneID:55011"
                     /db_xref="HGNC:HGNC:26075"
                     /db_xref="MIM:611480"
ORIGIN      
        1 mqnwmqnsdf lrelvitiar egledkynlq lnpewrmmkn rpfmgsisqq nirseqrpri
       61 qelgdlytpa pgraesgpek phlnlwleap dlllaeidlp kldgalglsl eigenrlvmg
      121 gpqqlyhlda yiplqinshe skaafhrkrk qlmvampllp vps
//
LOCUS       XP_054177553            1309 aa            linear   PRI 20-MAR-2023
DEFINITION  spectrin beta chain, non-erythrocytic 4 isoform X4 [Homo sapiens].
ACCESSION   XP_054177553
VERSION     XP_054177553.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321578.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1309
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1309
                     /product="spectrin beta chain, non-erythrocytic 4 isoform
                     X4"
                     /calculated_mol_wt=145990
     CDS             1..1309
                     /gene="SPTBN4"
                     /gene_synonym="CMND; NEDHND; QV; SPNB4; SPTBN3"
                     /coded_by="XM_054321578.1:321..4250"
                     /db_xref="GeneID:57731"
                     /db_xref="HGNC:HGNC:14896"
                     /db_xref="MIM:606214"
ORIGIN      
        1 maqvpgevdn meglpapnnn paarwespdr gwereqpaas taaaslfecs rikaladere
       61 avqkktftkw vnshlarvgc higdlyvdlr dgfvltrlle vlsgeqlprp trgrmrihsl
      121 envdkalqfl keqrvhlenv gshdivdgnh rltlglvwti ilrfqiqvik ietednretr
      181 sakdalllwc qmktagypev niqnfttswr dglafnalih rhrpdlvdfs kltksnanyn
      241 lqrafrtaeq hlglarlldp edvnmeapde ksiityvvsf yhyfskmkal avegkrigkv
      301 ldqvlevgki ieryeelaae llawihrtvg lisnqkfans lsgvqqqlqa ftayctlekp
      361 vkfqekgnle vllfsiqskl racnrrlfvp regcgiwdid kawgelekae hereaalrae
      421 lirqeklell aqrfdhkvam reswlnenqr lvsqdnfgye lpaveaamkk heaieadiaa
      481 yeervqgvae laqalaaegy ydirrvaaqr dsvlrqwall tglvgarrtr leqnlalqkv
      541 fqemvymvdw meemqaqlls recgqhlvea ddllqkhgll egdiaaqser vealnaaalr
      601 fsqlqgyqpc dpqvicnrvn hvhgclaelq eqaarrrael easrslwall qeleeaeswa
      661 rdkerlleaa ggggaagaag aagtaggahd lsstarllaq hkilqgelgg rrallqqalr
      721 cgeelvaagg avgpgadtvh lvglaeraas arrrwqrlee aaarrerrlq earalhqfga
      781 dldglldwlr dayrlaaagd fghdeassrr larqhraltg eveahrgpvs glrrqlatlg
      841 gasgagplvv alqvrvveae qlfaevteva alrrqwlrda lavyrmfgev hacelwigek
      901 eqwllsmrvp dslddvevvq hrfesldqem nslmgrvldv nhtvqelveg ghpssdevrs
      961 cqdhlnsrwn rivelveqrk eemsavllve nhvlevaevr aqvrekrrav esapraggal
     1021 qwrlsgleaa lqaleprqaa lleeaallae rfpaqaarlh qgaeelgaew galasaaqac
     1081 geavaaagrl qrflhdldaf ldwlvraqea aggsegplpn sleeadalla rhaalkeevd
     1141 qreedyariv aaseallaad gaelgpglal dewlphlelg whkllglwea rrealvqahi
     1201 yqlflrdlrq alvvlrnqem alsgaelpgt vesveealkq hrdflttmel sqqkmqvavq
     1261 aaegllrqgn iygeqaqeav trllekclii hpallhppwe ppdlprsss
//
LOCUS       XP_054177830             680 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor E2-alpha isoform X3 [Homo sapiens].
ACCESSION   XP_054177830
VERSION     XP_054177830.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321855.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..680
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..680
                     /product="transcription factor E2-alpha isoform X3"
                     /calculated_mol_wt=70032
     CDS             1..680
                     /gene="TCF3"
                     /gene_synonym="AGM8; AGM8A; AGM8B; bHLHb21; E2A; E47;
                     ITF1; p75; TCF-3; VDIR"
                     /coded_by="XM_054321855.1:356..2398"
                     /db_xref="GeneID:6929"
                     /db_xref="HGNC:HGNC:11633"
                     /db_xref="MIM:147141"
ORIGIN      
        1 mnqpqrmapv gtdkelsdll dfsmmfplpv tngkgrpasl agaqfggsgl edrpssgswg
       61 sgdqssssfd psrtfsegth fteshsslss stflgpglgg eclawcgpsa vhrcadvglg
      121 mvsartapgk sgergayasf grdagvgglt qagflsgela lnspgplsps gmkgtsqyyp
      181 sysgssrrra adgsldtqpk kvrkvppglp ssvyppssge dygrdatayp saktpsstyp
      241 apfyvadgsl hpsaelwspp gqagfgpmlg ggssplplpp gsgpvgssgs sstfgglhqh
      301 ermgyqlhga evngglpsas sfssapgaty ggvsshtppv sgadsllgsr gttagssgda
      361 lgkalasiys pdhssnnfss spstpvgspq glagtsqwpr agapgalsps ydgglhglqs
      421 kiedhldeai hvlrshavgt agdmhtllpg hgalasgftg pmslggrhag lvggshpedg
      481 lagstslmhn haalpsqpgt lpdlsrppds ysglgragat aaaseikree kedeentsaa
      541 dhseeekkel kaprartsst devlsleekd lrdrerrman narervrvrd ineafrelgr
      601 mcqmhlksdk aqtkllilqq avqvilgleq qvrernlnpk aaclkrreee kvsgvvgdpq
      661 mvlsaphpgl seahnpaghm
//
LOCUS       XP_054196833            1019 aa            linear   PRI 20-MAR-2023
DEFINITION  TOG array regulator of axonemal microtubules protein 2 isoform X2
            [Homo sapiens].
ACCESSION   XP_054196833
VERSION     XP_054196833.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340858.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1019
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1019
                     /product="TOG array regulator of axonemal microtubules
                     protein 2 isoform X2"
                     /calculated_mol_wt=110993
     CDS             1..1019
                     /gene="TOGARAM2"
                     /gene_synonym="FAM179A"
                     /coded_by="XM_054340858.1:291..3350"
                     /db_xref="GeneID:165186"
                     /db_xref="HGNC:HGNC:33715"
ORIGIN      
        1 mgtrddvpea kvlvpvavyc gsiprtsagp rvlppgsins slphgegslq peprallnne
       61 epsqllrglg qlgglkldtp skgwqarngh prnlralslg dqplvllpsp eseansvard
      121 tiqikdklkk rrlseglaas srasldpggg pqgvplhsti pratsqrllr vprpmpliqs
      181 ipttpeasgv kekgldlpgs ipgphelrpg aqeaqiswqy lhcndekmqk slgaivippi
      241 pkartvaatp srvpgslpsp lppgrgvltg lraprtrlar gsgprektpa slepkplasp
      301 irdrpaaakk palpfsqsap tltafsfdca reacpplkee dqkeigtkiq vtisksarek
      361 mqlkqmkeme llrrleeprt gqeltsqclg sqrafmkegl lplrgsgtls vptrlsgpcr
      421 ndvsiilrkw asraslpsip isrqeprfar hasanslpav ltlgspewee eeemdlrack
      481 elrpfsnpel glrdalqcln ssdwqmkekg lvsiqrlaac hsevltgklh dvclavtgev
      541 tnlrskvshl aistlgdlfq alkknmdqea eeiarcllqk madtnefiqr aagqslramv
      601 envtlarslv vltsagvyhr nplirkyaae hlsavleqig aekllsgtrd stdmlvhnlv
      661 rlaqdsnqdt rfygrkmvni lmantkfdaf lkqslpsydl qkvmaaikqq giedndelps
      721 akgrkvlrsl vvcenglpik eglscngprl vglrstlqgr gemveqlrel trlleakdfr
      781 srmegvgqll elckaktelv tahlvqvfda ftprlqdsnk kvnqwalesf akmipllres
      841 lhpmllsiii tvadnlnskn sgiyaaavav ldamvesldn lcllpalagr vrflsgravl
      901 dvtdrlavlv asvyprkpqa verhvlpilw hflntatrng alpgpsgnir gvvcrlsrsl
      961 qehmgsrlld faasqpkhvl ktlqelldse slggsrkatd rgvapdsktt gssypfqld
//
LOCUS       XP_054198546            1016 aa            linear   PRI 20-MAR-2023
DEFINITION  inactive phospholipase C-like protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054198546
VERSION     XP_054198546.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342571.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1016
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1016
                     /product="inactive phospholipase C-like protein 1 isoform
                     X3"
                     /calculated_mol_wt=114920
     CDS             1..1016
                     /gene="PLCL1"
                     /gene_synonym="PLCE; PLCL; PLDL1; PPP1R127; PRIP"
                     /coded_by="XM_054342571.1:16..3066"
                     /db_xref="GeneID:5334"
                     /db_xref="HGNC:HGNC:9063"
                     /db_xref="MIM:600597"
ORIGIN      
        1 mdpsnqkcgg rkktvsfssm psekkissan dcisfmqagc elkkvrpnsr iynrfftldt
       61 dlqalrweps kkdlekakld isaikeirlg kntetfrnng ladqicedca fsilhgenye
      121 sldlvansad vaniwvsglr ylvsrskqpl dfmegnqntp rfmwlktvfe aadvdgngim
      181 ledtsvelik qlnptlkeak irlkfkeiqk skeklttrvt eeefceafce lctrpevyfl
      241 lvqisknkey ldandlmlfl eaeqgvthit edicldiirr yelseegrqk gflaidgftq
      301 yllssecdif dpeqkkvaqd mtqplshyyi nashntylie dqfrgpadin gyiralkmgc
      361 rsveldvsdg sdnepilcnr nnmtthvsfr svievinkfa fvaseyplil clgnhcslpq
      421 qkvmaqqmkk vfgnklytea plpsesylps peklkrmiiv kgkklpsdpd vlegevtded
      481 eeaemsrrms vdyngeqkqi rlcrelsdlv sicksvqyrd felsmksqny wemcsfsete
      541 asrianeype dfvnynkkfl sriypsamri dssnlnpqdf wncgcqivam nfqtpgpmmd
      601 lhtgwflqng gcgyvlrpsi mrdevsyfsa ntkgilpgvs plalhikiis gqnfpkpkga
      661 cakgdvidpy vcieihgipa dcseqrtktv qqnsdnpifd etfefqvnlp elamirfvvl
      721 dddyigdefi gqytipfecl qpgyrhvplr sfvgdimehv tlfvhiaitn rsgggkaqkr
      781 slsvrmgkkv reytmlrnig lktiddifki avhplreaid mrenmqnaiv sikelcglpp
      841 iaslkqcllt lssrlitsdn tpsvslvmkd sfpyleplga ipdvqkkmlt aydlmiqesr
      901 fliemadtvq ekivqcqkag mefheelhnl gakeglkgrk lnkatesfaw nitvlkgqgd
      961 llknakneai enmkqiqlac lscglskaps ssaeakskrs leaieekess eengkl
//
LOCUS       XP_054179671             714 aa            linear   PRI 20-MAR-2023
DEFINITION  acetyl-coenzyme A synthetase, cytoplasmic isoform X5 [Homo
            sapiens].
ACCESSION   XP_054179671
VERSION     XP_054179671.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323696.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..714
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..714
                     /product="acetyl-coenzyme A synthetase, cytoplasmic
                     isoform X5"
                     /calculated_mol_wt=79912
     CDS             1..714
                     /gene="ACSS2"
                     /gene_synonym="ACAS2; ACECS; AceCS1; ACS; ACSA;
                     dJ1161H23.1"
                     /coded_by="XM_054323696.1:35..2179"
                     /db_xref="GeneID:55902"
                     /db_xref="HGNC:HGNC:15814"
                     /db_xref="MIM:605832"
ORIGIN      
        1 mglpeervrs gsgsrgqeea gaggrarsws pppevsrsah vpslqryrel hrrsveepre
       61 fwgdiakefy wktpcpgpfl rynfdvtkgk ifiewmkgat tnicynvldr nvhekklgdk
      121 vafywstsgn ssyrytcreg nepgettqit yhqllvqvcq fsnvlrkqgi qkgdrvaiym
      181 pmipelvvam lacarigalh sivfagfsse slcerildss csllittdaf yrgeklvnlk
      241 eladealqkc qekgfpvrcc ivvkhlgrae lgmgdstsqs ppikrscpdv qiswnqgidl
      301 wwhelmqeag decepewcda edplfilyts gstgkpkgvv htvggymlyv attfkyvfdf
      361 haedvfwcta digwitghsy vtygplanga tsvlfegipt ypdvnrlwsi vdkykvtkfy
      421 taptairllm kfgdepvtkh sraslqvlgt vgepinpeaw lwyhrvvgaq rcpivdtfwq
      481 tetgghmltp lpgatpmkpg satfpffgva pailnesgee legeaegylv fkqpwpgimr
      541 tvygnherfe ttyfkkfpgy yvtgdgcqrd qdgyywitgr iddmlnvsgh llstaevesa
      601 lveheavaea avvghphpvk geclycfvtl cdghtfspkl teelkkqire kigpiatpdy
      661 iqnapglpkt rsgkimrrvl rkiaqndhdl gdmstvadps vishlfshrc ltiq
//
LOCUS       XP_054201960             595 aa            linear   PRI 20-MAR-2023
DEFINITION  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein
            2 isoform X11 [Homo sapiens].
ACCESSION   XP_054201960
VERSION     XP_054201960.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345985.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..595
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..595
                     /product="inactive N-acetylated-alpha-linked acidic
                     dipeptidase-like protein 2 isoform X11"
                     /calculated_mol_wt=66040
     CDS             1..595
                     /gene="NAALADL2"
                     /coded_by="XM_054345985.1:5852..7639"
                     /db_xref="GeneID:254827"
                     /db_xref="HGNC:HGNC:23219"
                     /db_xref="MIM:608806"
ORIGIN      
        1 msrheiqgkk mayqkvhadq rapghsqyld nddlqatald lewdmekele esgfdqfqld
       61 gaenqnlghs etidlnldsi qpatspkgrf qrlqeesdyi thytrsapks nrcnfchvlk
      121 ilctatilfi fgiligyyvh tncpsdapss gtvdpqlyqe ilktiqaedi kksfrnlvql
      181 ykneddteis kkiktqwtsl gledvqfvny svlldlpgps pstvtlsssg qcfhpngqpc
      241 seearkdssq dllysyaays akgtlkaevi dvsygmaddl krirkiknvt nqiallklgk
      301 lpllyklssl ekagfggvll yidpcdlpkt vnpshdtfmv slnpggdpst pgypsvdesf
      361 rqsrsnltsl lvqpisaslv aklisspkar tkneacssle lpnneirvvs mqvqtvtklk
      421 tvtnvvgfvm gltspdryii vgshhhtahs yngqewasst aiitafiral mskvkrgwrp
      481 drtivfcswg gtafgnigsy ewgedfkkvl qknvvayisl hspirgnssl ypvaspslqq
      541 lvveknnfnc trraqcpetn issiqiqgda dyfinhlgvp ivqfayedik tleae
//
LOCUS       XP_054202213            3184 aa            linear   PRI 20-MAR-2023
DEFINITION  golgin subfamily B member 1 isoform X9 [Homo sapiens].
ACCESSION   XP_054202213
VERSION     XP_054202213.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346238.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3184
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3184
                     /product="golgin subfamily B member 1 isoform X9"
                     /calculated_mol_wt=367096
     CDS             1..3184
                     /gene="GOLGB1"
                     /gene_synonym="GCP; GCP372; GOLIM1"
                     /coded_by="XM_054346238.1:113..9667"
                     /db_xref="GeneID:2804"
                     /db_xref="HGNC:HGNC:4429"
                     /db_xref="MIM:602500"
ORIGIN      
        1 mlsrlsglan vvlhelsgdd dtdqnmrapl dpelhqesdm efnnttqedv qerlayaeql
       61 vvelkdiirq kdvqlqqkde alqeerkaad nkikklklha kakltslnky ieemkaqggt
      121 vlptepqsee qlskhdksst eeemeiekik hklqekeeli stlqaqltqa qaeqpaqklr
      181 vlqrkleehe eslvgraqvv dllqqeltaa eqrnqilsqq lqqmeaehnt lrntvetere
      241 eskillekme levaerklsf hnlqeemhhl leqfeqagqa qaelesrysa leqkhkaeme
      301 ektshilslq ktgqelqsac dalkdqnskl lqdkneqavq saqtiqqled qlqqkskeis
      361 qflnrlplqq hetasqtsfp dvynegtqav teeniaslqk rvvelenekg alllssiele
      421 elkaenekls sqitlleaqn rtgeadrevs eisivdiank rsssaeesgq dvlentfsqk
      481 hkelsvllle mkeaqeeiaf lklqlqgkra eeadhevldq kemkqmegeg iapikmkvfl
      541 edtgqdfplm pneesslpav ekeqastehq srtseeisln dagvelkstk qdgdkslsav
      601 pdigqchqde lerlksqile lelnfhkaqe iyeknldeka keisnlnqli eefkknadnn
      661 ssaftalsee rdqllsqvke lsmvtelraq vkqlemnlae aerqrrldye sqtahdnllt
      721 eqihslsiea kskdvkievl qnelddvqlq fseqstlirs lqsqlqnkes evlegaervr
      781 hisskveels qalsqkelei tkmdqlllek krdvetlqqt ieekdqqvte isfsmtekmv
      841 qlneekfslg veiktlkeql nllsraeeak keqveednev ssglkqnyde mspagqiske
      901 elqhefdllk keneqrkrkl qaalinrkel lqrvsrleee lanlkdeskk eiplseterg
      961 eveedkenke ysekcvtskc qeieiylkqt isekevelqh irkdleekla aeeqfqalvk
     1021 qmnqtlqdkt nqidllqaei senqaiiqkl itsntdasdg dsvalvketv visppctgss
     1081 ehwkpeleek ilalekekeq lqkklqealt srkailkkaq ekerhlreel kqqkddynrl
     1141 qeqfdeqske nenigdqlrq lqiqvresid gklsstdqqe scsstpglee plfkateqhh
     1201 tqpvlesnlc pdwpshseda salqggtsva qikaqlkeie aekvelelkv ssttseltkk
     1261 seevfqlqeq inkqgleies lktvsheaev haeslqqkle ssqlqiagle hlrelqpkld
     1321 elqkliskke edvsylsgql sekeaaltki qteiieqedl ikalhtqlem qakehderik
     1381 qlqvelcemk qkpeeigees rakqqiqrkl qaalisrkea lkenkslqee lslargtier
     1441 ltksladves qvsaqnkekd tvlgrlallq eerdklitem drsllenqsl sssceslkla
     1501 legltedkek lvkeieslks skiaestewq ekhkelqkey eillqsyenv sneaeriqhv
     1561 veavrqekqe lygklrstea nkketekqlq eaeqemeemk ekmrkfaksk qqkileleee
     1621 ndrlraevhp agdtakecme tllssnasmk eelervkmey etlskkfqsl msekdslsee
     1681 vqdlkhqieg nvskqanlea tekhdnqtnv teegtqsipg eteeqdslsm strptcsesv
     1741 psaksanpav skdfsshdei nnylqqidql keriagleee kqknkefsqt lenekntlls
     1801 qistkdgelk mlqeevtkmn llnqqiqeel srvtklketa eeekddleer lmnqlaelng
     1861 signycqdvt daqiknelle semknlkkcv seleeekqql vkektkvese irkeylekiq
     1921 gaqkepgnks hakelqellk ekqqevkqlq kdciryqeki salertvkal efvqtesqkd
     1981 leitkenlaq avehrkkaqa elasfkvlld dtqseaarvl adnlklkkel qsnkesvksq
     2041 mkqkdedler rleqaeekhl kekknmqekl dalrrekvhl eetigeiqvt lnkkdkevqq
     2101 lqenldstvt qlaaftksms slqddrdrvi deakkwerkf sdaiqskeee irlkedncsv
     2161 lkdqlrqmsi hmeelkinis rlehdkqiwe skaqtevqlq qkvcdtlqge nkellsqlee
     2221 trhlyhssqn elakleselk slkdqltdls nslekckeqk gnlegiirqq eadiqnskfs
     2281 yeqletdlqa sreltsrlhe einmkeqkii sllsgkeeai qvaiaelrqq hdkeikelen
     2341 llsqeeeeni vleeenkkav dktnqlmetl ktikkeniqq kaqldsfvks msslqndrdr
     2401 ivgdyqqlee rhlsiilekd qliqeaaaen nklkeeirgl rshmddlnse nakldaeliq
     2461 yredlnqvit ikdsqqkqll evqlqqnkel enkyakleek lkeseeaned lrrsfnalqe
     2521 ekqdlskeie slkvsisqlt rqvtalqeeg tlglyhaqlk vkeeevhrls alfsssqkri
     2581 aeleeelvcv qkeaakkvge iedklkkelk hlhhdagimr netetaeerv aelardlvem
     2641 eqkllmvtke nkgltaqiqs fgrsmsslqn srdhaneeld elkrkydasl kelaqlkeqg
     2701 llnrerdall setafsmnst eenslshlek lnqqllskde qllhlssqle dsynqvqsfs
     2761 kamaslqner dhlwnelekf rkseegkqrs aaqpstspae vqslkkamss lqndrdrllk
     2821 elknlqqqyl qinqeitelh plkaqlqeyq dktkafqimq eelrqenlsw qhelhqlrme
     2881 kssweiherr mkeqylmais dkdqqlshlq nlirelrsss sqtqplkvqy qrqaspetsa
     2941 spdgsqnlvy etellrtqln dslkeihqke lriqqlnsnf sqlleekntl siqlcdtsqs
     3001 lrenqqhygd llnhcavlek qvqelqagpl nidvapgapq ekngvhrksd peelrepqqs
     3061 fseaqqqlcn trqevnelrk lleeerdqrv aaenalsvae eqirrlehse wdssrtpiig
     3121 scgtqeqall idltsnscrr trsgvgwkrv lrslchsrtr vpllaaiyfl mihvllilcf
     3181 tghl
//
LOCUS       XP_054202454             378 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ANKUB1 isoform X3 [Homo sapiens].
ACCESSION   XP_054202454
VERSION     XP_054202454.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346479.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..378
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..378
                     /product="protein ANKUB1 isoform X3"
                     /calculated_mol_wt=42091
     CDS             1..378
                     /gene="ANKUB1"
                     /gene_synonym="C3orf16"
                     /coded_by="XM_054346479.1:124..1260"
                     /db_xref="GeneID:389161"
                     /db_xref="HGNC:HGNC:29642"
ORIGIN      
        1 mgcllgqklk vqrylskegp vlkyqkrval yiaafcgyie ltewalkqga rpheavgvhp
       61 yrawchealh advskcpiha aaeagqllil kafvnysvlc lecknaagqt pltivfkhkh
      121 kdcvlyllsk mwstvsfpki svpmriyiki kqwilraqsh slhksqfcga rvfgakvgdt
      181 vmvdgftkpk mtskswhkag nsdsqsivlk lpslskqtas skpvnplais qpdtrkqalk
      241 fhplvnassf selqkhqqqn qkkitatark keklikntyl pqvplppvsr vgyshpsffy
      301 atpsadfllk ssfssflehs gktpwenaiy clavasafke krwlqqleia rvlakksisn
      361 lttrggltac ensletvl
//
LOCUS       XP_054204622            1781 aa            linear   PRI 20-MAR-2023
DEFINITION  deleted in lung and esophageal cancer protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054204622
VERSION     XP_054204622.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348647.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1781
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1781
                     /product="deleted in lung and esophageal cancer protein 1
                     isoform X1"
                     /calculated_mol_wt=198144
     CDS             1..1781
                     /gene="DLEC1"
                     /gene_synonym="CFAP81; DLC-1; DLC1; F56; FAP81"
                     /coded_by="XM_054348647.1:19..5364"
                     /db_xref="GeneID:9940"
                     /db_xref="HGNC:HGNC:2899"
                     /db_xref="MIM:604050"
ORIGIN      
        1 metrssktrr slasrtnecq gtmwaptspp agssspsqpt wksslyssla yseafhysfa
       61 arprrltqla laqrpepqrl rlrpsslrtq dishlltgvf rnlysaevig devsaslika
      121 rgsenerhee fvdqlqqire lykqrldefe mlerhitqaq araiaenerv msqagvqdle
      181 slvrlppvks vsrwcidsel lrkhhlispe dyytdtvpfh sapkgislpg cskltfscek
      241 rsvqkkelnk kledscrkkl aefedeldht vdsltwnltp kakertrepl kkasqprnkn
      301 wmnhlrvpqr eldrlllarm esrnhflknp rffppntryg gkslvfppkk papigefqst
      361 epeqscadtp vflakppigf ftdyeigpvy emvialqntt ttsrylrvlp pstpyfalgl
      421 gmfpgkggmv apgmtcqyiv qffpdclgdf ddfilvetqs ahtlliplqa rrpppvltls
      481 pvldcgycli ggvkmtrfic knvgfsvgrf cimpktswpp lsfkaiatvg fveqppfgil
      541 psvfelapgh ailvevlfsp kslgkaeqtf iimcdncqik elvtigigql ialdliyisg
      601 eksqpdpgel tdltaqhfir fepenlrsta rkqliirnat hvelafywqi mkpnlqplmp
      661 getfsmdsik cypdketafs imprkgvlsp htdhefilsf sphelrdfhs vlqmvleevp
      721 epvsseaesl ghssysvddv ivleievkgs vepfqvllep yaliipgeny iginvkkafk
      781 mwnnskspir ylwgkisdch iievepgtgv iepsevgdfe lnftggvpgp tsqdllceie
      841 dspspvvlhi eavfkgpali invsalqfgl lrlgqkatns iqirnvsqlp atwrmkespv
      901 slqerpedvs pfdiepssgq lhslgecrvd itlealhcqh letvleleve ngawsylpvy
      961 aevqkphvyl qssqvevrnl ylgvptktti tlingtllpt qfhwgkllgh qaefcmvtvs
     1021 pkhgllgpse ecqlklelta htqeelthla lpchvsgmkk plvlgisgkp qglqvaitis
     1081 kessdcsvfs teqwpghpke lrldfgsavp lrtrvtrqli ltnrspirtr fslkfeyfgs
     1141 pqnslskkts lpnmppallk tvrmqehlak reqldfmesm lshgkgaaff phfsqgmlgp
     1201 yqqlciditg canmwgeywd nlictvgdll pevipvhmaa vgcpisslrt tsytidqaqk
     1261 epamrfgtqv sggdtvtrtl rlnnsspcdi rldwetyvpe dkedrlvell vfygppfplr
     1321 dqagnelvcp dtpeggcllw spgpssssef shetdssveg sssasnrvaq klisvilqah
     1381 egvpsghlyc ispkqvvvpa ggsstiyisf tpmvlspeil hkvectgyal gfmsldskve
     1441 reipgkrhrl qdfavgplkl dlhsyvrpaq lsveldyggs mefqcqasdl ipeqpcsgvl
     1501 selvtthhlk ltntteiphy frlmvsrpfs vsqdgasqdh rapgpgqkqe ceeetasadk
     1561 qlvlqaqenm lvnvsfslsl ellsyqklpa dqtlpgvdiq qsasgeremv ftqnllleyt
     1621 nqttqvvplr avvavpelql stswvdfgtc fvsqqrvrev ylmnlsgcrs ywtmlmgvvs
     1681 ctsprwwwkv csvrspapcg sgakapmmrd tccltspeap pqpsapgpsw rkniaqglga
     1741 alqhkdtdlg twgplgsswn grtpfhngls lgphdmssel t
//
LOCUS       XP_054204662             326 aa            linear   PRI 20-MAR-2023
DEFINITION  olfactory receptor 4F17 [Homo sapiens].
ACCESSION   XP_054204662
VERSION     XP_054204662.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348687.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..326
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..326
                     /product="olfactory receptor 4F17"
                     /calculated_mol_wt=36390
     CDS             1..326
                     /gene="LOC128966576"
                     /coded_by="XM_054348687.1:61..1041"
                     /db_xref="GeneID:128966576"
ORIGIN      
        1 mkkvtaeais wnestsetnn smvtefiflg lsdsqglqtf lfmlffvfyg givfgnlliv
       61 itvvsdshlh spmyfllanl slidlslssv tapkmitdff sqrkvisfkg clvqifllhf
      121 fggsemvili amgfdryiai ckplhyttim cgnacvgima vawgigflhs vsqlafavhl
      181 pfcgpnevds fycdlprvik lactdtyrld imviansgvl tvcsfvllii sytiilmtiq
      241 hrpldksska lstltahitv vllffgpcvf iyawpfpiks ldkflavfys vitpllnpii
      301 ytlrnkdmkt airqlrkwda hssvkf
//
LOCUS       XP_054208940            2758 aa            linear   PRI 20-MAR-2023
DEFINITION  teneurin-2 isoform X3 [Homo sapiens].
ACCESSION   XP_054208940
VERSION     XP_054208940.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352965.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2758
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2758
                     /product="teneurin-2 isoform X3"
                     /calculated_mol_wt=305885
     CDS             1..2758
                     /gene="TENM2"
                     /gene_synonym="ODZ2; ten-2; TEN-M2; TEN2; TNM2"
                     /coded_by="XM_054352965.1:765..9041"
                     /db_xref="GeneID:57451"
                     /db_xref="HGNC:HGNC:29943"
                     /db_xref="MIM:610119"
ORIGIN      
        1 mdvkdrrhrs ltrgrcgkec rytsssldse dcrvptqksy sssetlkayd hdsrmhygnr
       61 vtdlihresd efprqgtnft laelgiceps phrsgycsdm gilhqgysls tgsdadsdte
      121 ggmspehair lwgrgiksrr ssglssrens altltdsdne nksddengrp ipptsspsll
      181 psaqlpsshn pppvscqmpl ldsntshqim dtnpdeefsp nsyllracsg pqqasssgpp
      241 nhhsqstlrp plppphnhtl shhhssansl nrnsltnrrs qihapapapn dlattpesvq
      301 lqdswvlnsn vpletrhflf ktssgstplf sssspgyplt sgtvytpppr llprntfsrk
      361 afklkkpsky cswkcaalsa iaaalllail layfiamhll glnwqlqpad ghtfnngirt
      421 glpgnddvat mpsggkvpws lknssidsge aevgrrvtqe vppgvfwrsq ihisqpqflk
      481 fnislgkdal fgvyirrglp pshaqydfme rldgkekwsv vesprerrsi qtlvqneavf
      541 vqyldvglwh lafyndgkdk emvsfntvvl dsvqdcprnc hgngecvsgv chcfpgflga
      601 dcakaacpvl csgngqyskg tcqcysgwkg aecdvpmnqc idpscgghgs cidgncvcsa
      661 gykgehceev dcldptcssh gvcvngeclc spgwgglnce larvqcpdqc sghgtylpdt
      721 glcscdpnwm gpdcsvevcs vdcgthgvci ggacrceegw tgaacdqrvc hprciehgtc
      781 kdgkcecreg wngehctidg cpdlcngngr ctlgqnswqc vcqtgwrgpg cnvametsca
      841 dnkdnegdgl vdcldpdccl qsacqnsllc rgsrdpldii qqgqtdwpav ksfydrikll
      901 agkdsthiip genpfnsslv slirgqvvtt dgtplvgvnv sfvkypkygy titrqdgtfd
      961 lianggaslt lhferapfms qertvwlpwn sfyamdtlvm kteensipsc dlsgfvrpdp
     1021 iiissplstf fsaapgqnpi vpetqvlhee ielpgsnvkl rylssrtagy ksllkitmtq
     1081 stvplnlirv hlmvaveghl fqksfqaspn laytfiwdkt daygqrvygl sdavvsvgfe
     1141 yetcpslilw ekrtallqgf eldpsnlggw sldkhhilnv ksgilhkgtg enqfltqqpa
     1201 iitsimgngr rrsiscpscn glaegnklla pvalavgidg slyvgdfnyi rrifpsrnvt
     1261 silelrnnpa hkyylavdpv sgslyvsdtn srriyrvksl sgtkdlagns evvagtgeqc
     1321 lpfdearcgd ggkaidatlm sprgiavdkn glmyfvdatm irkvdqngii stllgsndlt
     1381 avrplscdss mdvaqvrlew ptdlavnpmd nslyvlennv ilritenhqv siiagrpmhc
     1441 qvpgidysls klaihsales asaiaishtg vlyitetdek kinrlrqvtt ngeicllaga
     1501 asdcdckndv ncncysgdda yatdailnsp sslavapdgt iyiadlgnir iravsknkpv
     1561 lnafnqyeaa spgeqelyvf nadgihqytv slvtgeylyn ftystdndvt elidnngnsl
     1621 kirrdssgmp rhllmpdnqi itltvgtngg lkvvstqnle lglmtydgnt gllatksdet
     1681 gwttfydydh egrltnvtrp tgvvtslhre meksitidie nsnrdddvtv itnlssveas
     1741 ytvvqdqvrn syqlcnngtl rvmyangmgi sfhsephvla gtitptigrc nislpmengl
     1801 nsiewrlrke qikgkvtifg rklrvhgrnl lsidydrnir tekiyddhrk ftlriiydqv
     1861 grpflwlpss glaavnvsyf fngrlaglqr gamsertdid kqgrivsrmf adgkvwsysy
     1921 ldksmvlllq sqrqyifeyd ssdrllavtm psvarhsmst htsigyirni ynppesnasv
     1981 ifdysddgri lktsflgtgr qvfykygkls klseivydst avtfgydett gvlkmvnlqs
     2041 ggfsctiryr kigplvdkqi yrfseegmvn arfdytyhdn sfriasikpv isetplpvdl
     2101 yrydeisgkv ehfgkfgviy ydinqiitta vmtlskhfdt hgrikevqye mfrslmywmt
     2161 vqydsmgrvi krelklgpya nttkytydyd gdgqlqsvav ndrptwrysy dlngnlhlln
     2221 pgnsvrlmpl rydlrdritr lgdvqykidd dgylcqrgsd ifeynskgll traynkasgw
     2281 svqyrydgvg rrasyktnlg hhlqyfysdl hnptrithvy nhsnseitsl yydlqghlfa
     2341 messsgeeyy vasdntgtpl avfsinglmi kqlqytayge iyydsnpdfq mvigfhggly
     2401 dpltklvhft qrdydvlagr wtspdytmwk nvgkepapfn lymfksnnpl sseldlknyv
     2461 tdvkswlvmf gfqlsniipg fprakmyfvp ppyelsesqa sengqlitgv qqtterhnqa
     2521 fmalegqvit kklhasirek aghwfatttp iigkgimfai kegrvttgvs siasedsrkv
     2581 asvlnnayyl dkmhysiegk dthyfvkigs adgdlvtlgt tigrkvlesg vnvtvsqptl
     2641 lvngrtrrft niefqystll lsirygltpd tldeekarvl dqarqralgt awakeqqkar
     2701 dgregsrlwt egekqqllst grvqgyegyy vlpveqypel adsssniqfl rqnemgkr
//
LOCUS       XP_054210345             381 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF217 isoform X6 [Homo sapiens].
ACCESSION   XP_054210345
VERSION     XP_054210345.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354370.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..381
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..381
                     /product="E3 ubiquitin-protein ligase RNF217 isoform X6"
                     /calculated_mol_wt=39750
     CDS             1..381
                     /gene="RNF217"
                     /gene_synonym="C6orf172; dJ84N20.1; IBRDC1; OSTL"
                     /coded_by="XM_054354370.1:109..1254"
                     /db_xref="GeneID:154214"
                     /db_xref="HGNC:HGNC:21487"
                     /db_xref="MIM:618592"
ORIGIN      
        1 mgeeqstvsg gggpqesqtl asgtaghpep prpqgdsara pplraasaep sgggcgsdwg
       61 cadtsapepa rslgppgwsk srapaqpagl altgplnpqt lplqleleee eeeagdrkeg
      121 gdeqqeappg eeleprtrvg aadglvldvl gqrrpslakr qvfcsvycve sdlpeapase
      181 qlsppasppg appvlnppst rssfpsprls lptdslspdg gsielefyla pepfsmpsll
      241 gappysglgg vgdpyvplmv lmcrvcledk pikplpcckk avceeclkvy lsaqteshsv
      301 trlecsgmis ahgnlhipgs sdspasafrv vgttalltla legklhnegk sqvlcnlkhi
      361 qspandkrle dtsqellpfw r
//
LOCUS       XP_054213295            5028 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-binding cassette sub-family A member 13 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054213295
VERSION     XP_054213295.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357320.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5028
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..5028
                     /product="ATP-binding cassette sub-family A member 13
                     isoform X2"
                     /calculated_mol_wt=572349
     CDS             1..5028
                     /gene="ABCA13"
                     /coded_by="XM_054357320.1:27..15113"
                     /db_xref="GeneID:154664"
                     /db_xref="HGNC:HGNC:14638"
                     /db_xref="MIM:607807"
ORIGIN      
        1 mghagcqfka llwknwlcrl rnpvlflaef fwpcilfvil tvlrfqeppr yrdicylqpr
       61 dlpscgvipf vqsllcntgs rcrnfsyegs mehhfrlsrf qtaadpkkvn nlaflkeiqd
      121 laeeihgmmd kaknlkrlwv ersntpdssy gssfftmdln kteevilkle slhqqphiwd
      181 fllllprlht shdhvedgmd vavnllqtil nslisledld wlplnqtfsq vselvlnvti
      241 stltflqqhg vavtepvyhl smqnivwdpq kvqydlksqf gfddlhteqi lnssaelkei
      301 ptdtslekmv csvlsstsed eaekwghvgg chpkwseakn ylvhavswlr vyqqvfvqwq
      361 qgsllqktlt gmghslealr nqfeeeskpw kvvealhtal lllndslsad gpkdnhtfpk
      421 ilqhlwklqs llqnlpqwpa lkrflqldga lrnaiaqnlh fvqevlicle tsandfkwfe
      481 lnqlklekdv ffwelkqmla knavcpngrf sekevflppg nssiwgglqg llcycnsset
      541 svlnkllgsv edadrilqev itwhknmsvl ipeeyldwqe lemqlseasl sctrlflllg
      601 adpspendvf ssdckhqlvs tvifhtlekt qffleqayyw kafkkfirkt cevaqyvnmq
      661 esfqnrllaf peespcfeen mdwkmisdny fqflnnllks ptasisraln ftkhllmmek
      721 klhtledeqm nfllsfveff eklllpnlfd ssivpsfhsl psltedilni sslwtnhlks
      781 lkrdpsatda qkllefgnev iwkmqtlgsh wirkepknll rfielilfei npkllelway
      841 giskgkrakl enfftllnfs vpeneilsts fnfsqlfhsd wpkspamnid fvrlseaiit
      901 slhefgfleq eqisealntv yairnasdlf salsepqkqe vdkilthihl nvfqdkdsal
      961 llqiyssfyr yiyellniqs rgssltfltq iskhildiik qfnfqniska faflfktaev
     1021 lggisnvsyc qqllsifnfl elqaqsfmst egqeleviht tltglkqlli idedfrislf
     1081 qymsqffnss vedlldnkcl isdnkhissv nystseessf vfplaqifsn lsanvsvfnk
     1141 fmsihctvsw lqmwteiwet isqlfkfdmn vftslhhgft qlldeleddv kvskscqgil
     1201 pthnvarlil nlfknvtqan dfhnwedfld lrdflvalgn alvsvkklnl eqvekslftm
     1261 eaalhqlktf pfnestsref lnsllevfie fsstseyivr nldsindfls nnltnygekf
     1321 eniitelrea ivflrnvshd rdlfscadif qnvteciled gflyvntsqr mlrildtlns
     1381 tfssentiss lkgcivwldv inhlyllsns sfsqgrlqni lgnfrdienk mnsilkivtw
     1441 vlnikkplcs sngshincvn iylkdvtdfl nivlttvfek ekkpkfeill allndstkqv
     1501 rmsinnlttd fdfasqsnwr yftelilrpi emsdeipnqf qniwlhlitl gkefqklvkg
     1561 iyfnilenns ssktenllni fatspkekdv nsvgnsiyhl asylafslsh dlqnspkiii
     1621 speimkatgl giqlirdvfn slmpvvhhts pqnagymqal kkvtsvmrtl kkadidllvd
     1681 qleqvsvnlm dffknissvg tgnlvvnllv glmekfadss hswnvnhllq lsrlfpkdvv
     1741 davidvyyvl phavrllqgv pgkniteglk dvysftllhg itisnitked faivikilld
     1801 tielvsdkpd iisealacfp vvwcwnhtns gfrqnskidp cnvhglmsss fygkvasild
     1861 hfhlspqged spcsnessrm eitrkvvcii helvdwnsil lelsevfhvn islvktvqkf
     1921 whkilpfvpp sinqtrdsis elcpsgsikq valqiieklk nvnftkvtsg enildklssl
     1981 nkilninedt etsvqniiss nlertvqlis edwsleksth nllslfmmlq nanvtgssle
     2041 alssfiekse tpynfeelwp kfqqimkdlt qdfrirhlls emnkgiksin smalqkitlq
     2101 fahfleilds pslktleiie dfllvtknwl qeyanedysr mietlfipvt nesstedial
     2161 lakaiatfwg slknisragn fdvaflthll nqeqltnfsv vqllfenili nlinnlagns
     2221 qeaawnlndt dlqimnfinl ilnhmqsets rktvlslrsi vdfteqflkt ffslflkeds
     2281 enkislllky fhkdviaems fvpkdkilei lkldqfltlm iqdrlmnifs slketiyhlm
     2341 kssfildnge fyfdthqglk fmqdlfnall retsmknkte nnidfftvvs qlffhvnkse
     2401 dlfklnqdlg salhlvrecs temarlldti lhspnkdfya lyptlqevil anltdllffi
     2461 nnsfplrnra tleitkrlvg aisraseesh vlkpllemsg tlvmllndsa dlrdlatsmd
     2521 sivkllklvk kvsgkmstvf kthfisntkd svkffdtlys imqqsvqnlv keiatlkkid
     2581 hftfekindl lvpfldlafe migvepyiss nsdifsmsps ilsymnqskd fsdileeiae
     2641 fltsvkmnle dmrslavafn netqtfsmds vnlreeilgc lvpinnitnq mdflypnpis
     2701 thsgpqdikw eiihevipfl dkilsqnste igsflkmvic ltlealwknl kkdnwnvsnv
     2761 lmtftqhpnn llktietvle assgiksdye gdlnkslyfd tplsqnithh qlekaihnvl
     2821 srialwrkgl lfnnsewits trtlfqplfe ifikattgkn vtsekeertk kemidfpysf
     2881 kpffclekyl gglfvltkyw qqipltdqsv veicevfqqt vkpseameml qkvkmmvvrv
     2941 ltivaenpsw tkdilcatls ckqngirhli lsaiqgvtla qdhfqeieki wsspnqlnce
     3001 slsknlsstl esfksslena tgqdctsqpr letvqqhlym laksleetws sgnpimtfls
     3061 nftvtedvki kdlmknitkl teelrssiqi snetihsile anishskvlf saltvalsgk
     3121 cdqeilhlll tfpkgekswi aaeelcslpg skvyslivll srnldvrafi yktlmpsean
     3181 gllnslldiv sslsallaka qhvfeylpef lhtfkitall etldfqqvsq nvqarssafg
     3241 sfqfvmkmvc kdqasflsds nmfinlprvk elleddkekf nipedstpfc lklyqeilql
     3301 pngalvwtfl kpilhgkily tpntpeinkv iqkanytfyi vdklktlset llemsslfqr
     3361 sgsgqmfnql qealrnkfvr nfvenqlhid vdklteklqt ygglldemfn hagagrfrfl
     3421 gsilvnlssc valnrfqalq svdiletkah ellqqnsfla siifsnslfd knfrsesvkl
     3481 pphvsytirt nvlysvrtdv vknpswkfhp qnlpadgfky nyvfaplqdm ieraiilvqt
     3541 gqealepaaq tqaapypcht sdlflnnvgf ffplimmltw mvsvasmvrk lvyeqeiqie
     3601 eymrmmgvhp vihflawfle nmavltissa tlaivlktsg ifahsntfiv flflldfgms
     3661 vvmlsyllsa ffsqantaal ctslvymisf lpyivllvlh nqlsfvnqtf lcllsttafg
     3721 qgvffitfle gqetgiqwnn myqaleqggm tfgwvcwmil fdsslyflcg wylsnlipgt
     3781 fglrkpwyfp ftasywksvg flvekrqyfl ssslfffnen fdnkgsslqn regelegsap
     3841 gvtlvsvtke yeghkavvqd lsltfyrdqi tallgtngag kttiismltg lhpptsgtii
     3901 ingknlqtdl srvrmelgvc pqqdilldnl tvrehlllfa sikapqwtkk elhqqvnqtl
     3961 qdvdltqhqh kqtralsggl krklslgiaf mgmsrtvvld eptsgvdpcs rhslwdillk
     4021 yregrtiift thhldeaeal sdrvavlqhg rlrccgppfc lkeaygqglr ltltrqpsvl
     4081 eahdlkdmac vtslikiyip qaflkdssgs eltytipkdt dkaclkglfq aldenlhqlh
     4141 ltgygisdtt leevflmllq dsnkkshial gteselqnhr ptghlsgycg slarpatvqg
     4201 vqllraqvaa ilarrlrrtl ragkstladl llpvlfvala mglfmvrpla teypplrltp
     4261 ghyqraetyf fsssggdnld ltrvllrkfr dqdlpcadln prqknsscwr tdpfshpefq
     4321 dscgclkcpn rsasapyltn hlghtllnls gfnmeeylla psekprlggw sfglkipsea
     4381 ggangniskp ptlakvwynq kgfhslpsyl nhlnnlilwq hlpptvdwrq ygitlyshpy
     4441 ggallnedki lesirqcgva lcivlgfsil sasigssvlf ylvsvclcva vivafqltaf
     4501 tfrknlaata lllslfgyat lpwmylmsri fsssdvafis yvslnfifgl ctmlitimpr
     4561 llaiiskakn lqniydvlkw vftifpqfcl gqglvelcyn qikydlthnf gidsyvspfe
     4621 mnflgwifvq lasqgtvlll lrvllhwdll rwprghstlq gtvksskdtd vekeekrvfe
     4681 grtngdilvl ynlskhyrrf fqniiavqdi slgipkgecf gllgvngagk sttfkmlnge
     4741 vsltsghaii rtpmgdavdl ssagtagvli gycpqqdald elltgwehly yycslrgipr
     4801 qcipevagdl irrlhleaha dkpvatysgg tkrklstala lvgkpdilll depssgmdpc
     4861 skrylwqtim kevregcaav ltshsmeece alctrlaimv ngsfkclgsp qhiknrfgdg
     4921 ytvkvwlcke anqhctvsdh lklyfpgiqf kgqhlnlley hvpkrwgcla dlfkviennk
     4981 tflnikhysi nqttleqvfi nfaseqqqtl qstldpstds hhthhlpi
//
LOCUS       XP_054215279             140 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 126 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054215279
VERSION     XP_054215279.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359304.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..140
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..140
                     /product="coiled-coil domain-containing protein 126
                     isoform X1"
                     /calculated_mol_wt=15537
     CDS             1..140
                     /gene="CCDC126"
                     /coded_by="XM_054359304.1:649..1071"
                     /db_xref="GeneID:90693"
                     /db_xref="HGNC:HGNC:22398"
ORIGIN      
        1 mfftisrknm sqklsllllv fgliwglmll hytfqqprhq ssvklreqil dlskryvkal
       61 aeenkntvdv engasmagya dlkrtiavll ddilqrlvkl enkvdyivvn gsaanttngt
      121 sgnlvpvttn krtnvsgsir
//
LOCUS       XP_054218587             116 aa            linear   PRI 20-MAR-2023
DEFINITION  thioredoxin domain-containing protein 8 isoform X4 [Homo sapiens].
ACCESSION   XP_054218587
VERSION     XP_054218587.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362612.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..116
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..116
                     /product="thioredoxin domain-containing protein 8 isoform
                     X4"
                     /calculated_mol_wt=12985
     CDS             1..116
                     /gene="TXNDC8"
                     /gene_synonym="bA427L11.2; SPTRX-3; SPTRX3; TRX6"
                     /coded_by="XM_054362612.1:68..418"
                     /db_xref="GeneID:255220"
                     /db_xref="HGNC:HGNC:31454"
                     /db_xref="MIM:617789"
ORIGIN      
        1 mvqiikdtne fktfltaagh klavvqfssk rcgpckrmfp vfhamsvkyq nvffanvdvn
       61 nspelaetch iktiptfqmf kksqkifefc gadakkleak tqelinpvsg ivlrnv
//
LOCUS       XP_054220074            2070 aa            linear   PRI 20-MAR-2023
DEFINITION  multiple PDZ domain protein isoform X1 [Homo sapiens].
ACCESSION   XP_054220074
VERSION     XP_054220074.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364099.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 7% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2070
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2070
                     /product="multiple PDZ domain protein isoform X1"
                     /calculated_mol_wt=221488
     CDS             1..2070
                     /gene="MPDZ"
                     /gene_synonym="HYC2; MUPP1"
                     /coded_by="XM_054364099.1:722..6934"
                     /db_xref="GeneID:8777"
                     /db_xref="HGNC:HGNC:7208"
                     /db_xref="MIM:603785"
ORIGIN      
        1 mleaidknra lhaaerlqtk lrergdvane dklsllksvl qsplfsqils lqtsvqqlkd
       61 qvniatsats nieyahvphl spaviptlqn esfllspnng nlealtgpgi phingkpacd
      121 efdqliknma qgrhvevfel lkppsgglgf svvglrsenr gelgifvqei qegsvahrdg
      181 rlketdqila ingqaldqti thqqaisilq kakdtvqlvi argslpqlvs pivsrspsaa
      241 stisahsnpv hwqhmetiel vndgsglgfg iiggkatgvi vktilpggva dqhgrlcsgd
      301 hilkigdtdl agmsseqvaq vlrqcgnrvk lmiargaiee rtaptalgit lsssptstpe
      361 lrvdastqkg eesetfdvel tknvqglgit iagyigdkkl epsgifvksi tkssavehdg
      421 riqigdqiia vdgtnlqgft nqqavevlrh tgqtvlltlm rrgmkqeael msredvtkda
      481 dlspvnasii kenyekdedf lsstrntnil pteeegypll saeieeieda qkqeaalltk
      541 wqrimginye ivvahvskfs ensglgisle atvghhfirs vlpegpvghs gklfsgdell
      601 evngitllge nhqdvvnilk elpievtmvc crrtvppttq seldsldlcd ieltekphvd
      661 lgefigsset edpvlamtda gqsteevqap lamweagiqh ielekgskgl gfsildyqdp
      721 idpastviii rslvpggiae kdgrllpgdr lmfvndvnle nssleeavea lkgapsgtvr
      781 igvakplpls peegyvsake dsflypphsc eeagladkpl fradlalvgt ndadlvdest
      841 fespyspend siystqasil slhgsscgdg lnygsslpss ppkdviensc dpvldlhmsl
      901 eelytqnllq rqdentpsvd ismgpasgft indytpanai eqqyecenti vwteshlpse
      961 vissaelpsv lpdsagkgse ylleqsslac naecvmlqnv skesfertin iakgnsslgm
     1021 tvsankdglg mivrsiihgg aisrdgriai gdcilsinee stisvtnaqa ramlrrhsli
     1081 gpdikityvp aehleefkis lgqqsgrvma ldifssytgr dipelperee gegeeselqn
     1141 taysnwnqpr rvelwrepsk slgisivggr gmgsrlsnge vmrgifikhv ledspagkng
     1201 tlkpgdrive vdgmdlrdas heqaveairk agnpvvfmvq siinrprksp lpsllhnlyp
     1261 kynfsstnpf adslqinadk apsqsesepe kaplcsvppp ppsafaemgs dhtqssaski
     1321 sqdvdkedef gyswknirer ygtltgelhm ielekghsgl glslagnkdr srmsvfivgi
     1381 dpngaagkdg rlqiadelle ingqilygrs hqnassiikc apskvkiifi rnkdavnqma
     1441 vcpgnavepl psnsenlqnk eteptvttsd aavdlssfkn vqhlelpkdq gglgiaisee
     1501 dtlsgviiks ltehgvaatd grlkvgdqil avddeivvgy piekfisllk takmtvklti
     1561 haenpdsqav psaagaasge kknssqslmv pqsgspepes irntsrsstp aifasdpatc
     1621 piipgcetti eiskgrtglg lsivggsdtl lgaiiihevy eegaackdgr lwagdqilev
     1681 ngidlrkath deainvlrqt pqrvrltlyr deapykeeev cdtltielqk kpgkglglsi
     1741 vgkrndtgvf vsdivkggia dadgrlmqgd qilmvngedv rnatqeavaa llkcslgtvt
     1801 levgrikagp fhserrpsqs sqvsegslss ftfplsgsst seslessskk nalaseiqgl
     1861 rtvemkkgpt dslgisiagg vgsplgdvpi fiammhptgv aaqtqklrvg drivticgts
     1921 tegmthtqav nllknasgsi emqvvaggdv svvtghqqep assslsftgl tsssifqddl
     1981 gppqcksitl ergpdglgfs ivggygsphg dlpiyvktvf akgaasedgr lkrgdqiiav
     2041 ngqslegvth eeavailkrt kgtvtlmvls
//
LOCUS       XP_054183177            1210 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphorylase b kinase regulatory subunit alpha, liver isoform
            isoform X3 [Homo sapiens].
ACCESSION   XP_054183177
VERSION     XP_054183177.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327202.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1210
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1210
                     /product="phosphorylase b kinase regulatory subunit alpha,
                     liver isoform isoform X3"
                     /calculated_mol_wt=135660
     CDS             1..1210
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /coded_by="XM_054327202.1:183..3815"
                     /db_xref="GeneID:5256"
                     /db_xref="HGNC:HGNC:8926"
                     /db_xref="MIM:300798"
ORIGIN      
        1 mrsrsnsgvr ldgyarlvqq tilcyqnpvt gllsasheqk dawvrdniys ilavwglgma
       61 yrknadrded kakayeleqn vvklmrgllq cmmrqvakve kfkhtqstkd slhakyntat
      121 cgtvvgddqw ghlqvdatsl fllflaqmta sglriiftld evafiqnlvf yieaaykvad
      181 ygmwergdkt nqgipelnas svgmaksilf smlprastsk eidagllsii sfpafavedv
      241 nlvnvtknei isklqgrygc crflrdgykt predpnrlhy dpaelklfen iecewpvfwt
      301 yfiidgvfsg davqvqeyre alegilirgk ngirlvpely avppnkvdee yknphtvdrv
      361 pmgkvphlwg qslyilssll aegflaagei dplnrrfsts vkpdvvvqvt vlaennhikd
      421 llrkhgvnvq siadihpiqv qpgrilshiy aklgrnknmn lsgrpyrhig vlgtsklyvi
      481 rnqiftftpq ftdqhhfyla ldnemiveml rielaylctc wrmtgrptlt fpisrtmltn
      541 dgsdihsavl stirkledgy fggarvklgn lseflttsfy tyltfldpdc deklfdnase
      601 gtfspdsdsd lvgyledtcn qesqdeldhy inhllqstsl rsylpplckn tedrhvfsai
      661 hstrdilsvm akakglevpf vpmtlptkvl sahrkslnlv dspqpllekv pesdfqwprd
      721 dhgdvdcekl veqlkdcsnl qdqadilyil yvikgpswdt nlsgqhgvtv qnllgelygk
      781 aglnqewgli ryisgllrkk vevlaeactd llshqkqltv glppepreki isaplppeel
      841 tkliyeasgq disiavltqe ivvylamyvr aqpslfveml rlrigliiqv matelarsln
      901 csgeeasesl mnlspfdmkn llhhilsgke fgversvrpi hsstssptis ihevghtgvt
      961 ktersginrl rsemkqmtrr fsadeqffsv gqaasssahs sksavtvprd ycrsstpssp
     1021 tgtsssdsgg hhigwgerqg qwlrrrrldg ainrvpvgfy qrvwkilqkc hglsidgyvl
     1081 pssttremtp heikfavhve svlnrvpqpe yrqllveaim vltllsdtem tsiggiihvd
     1141 qivqmasqlf lqdqvsigam dtlekdqatg ichffydsap sgaygtmtyl travasylqe
     1201 llpnsgcqmq
//
LOCUS       NP_001354467             418 aa            linear   PRI 22-MAR-2023
DEFINITION  calcium/calmodulin-dependent protein kinase type II subunit gamma
            isoform 31 [Homo sapiens].
ACCESSION   NP_001354467
VERSION     NP_001354467.1
DBSOURCE    REFSEQ: accession NM_001367538.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 418)
  AUTHORS   Gurd BJ, Menezes ES, Arhen BB and Islam H.
  TITLE     Impacts of altered exercise volume, intensity, and duration on the
            activation of AMPK and CaMKII and increases in PGC-1alpha mRNA
  JOURNAL   Semin Cell Dev Biol 143, 17-27 (2023)
   PUBMED   35680515
  REMARK    GeneRIF: Impacts of altered exercise volume, intensity, and
            duration on the activation of AMPK and CaMKII and increases in
            PGC-1alpha mRNA.
            Review article
REFERENCE   2  (residues 1 to 418)
  AUTHORS   Miyauchi M, Sasaki K, Kagoya Y, Taoka K, Masamoto Y, Yamazaki S,
            Arai S, Mizuno H and Kurokawa M.
  TITLE     CAMK2G is identified as a novel therapeutic target for
            myelofibrosis
  JOURNAL   Blood Adv 6 (5), 1585-1597 (2022)
   PUBMED   34521112
  REMARK    GeneRIF: CAMK2G is identified as a novel therapeutic target for
            myelofibrosis.
REFERENCE   3  (residues 1 to 418)
  AUTHORS   Lopez X, Palacios-Prado N, Guiza J, Escamilla R, Fernandez P, Vega
            JL, Rojas M, Marquez-Miranda V, Chamorro E, Cardenas AM, Maldifassi
            MC, Martinez AD, Duarte Y, Gonzalez-Nilo FD and Saez JC.
  TITLE     A physiologic rise in cytoplasmic calcium ion signal increases
            pannexin1 channel activity via a C-terminus phosphorylation by
            CaMKII
  JOURNAL   Proc Natl Acad Sci U S A 118 (32) (2021)
   PUBMED   34301850
  REMARK    GeneRIF: A physiologic rise in cytoplasmic calcium ion signal
            increases pannexin1 channel activity via a C-terminus
            phosphorylation by CaMKII.
REFERENCE   4  (residues 1 to 418)
  AUTHORS   Gu J, Wang X, Zhang L, Xiang J, Li J, Chen Z, Zhang Y, Chen J and
            Shen J.
  TITLE     Matrine suppresses cell growth of diffuse large B-cell lymphoma via
            inhibiting CaMKIIgamma/c-Myc/CDK6 signaling pathway
  JOURNAL   BMC Complement Med Ther 21 (1), 163 (2021)
   PUBMED   34088288
  REMARK    GeneRIF: Matrine suppresses cell growth of diffuse large B-cell
            lymphoma via inhibiting CaMKIIgamma/c-Myc/CDK6 signaling pathway.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 418)
  AUTHORS   Jeong J, Li Y and Roche KW.
  TITLE     CaMKII Phosphorylation Regulates Synaptic Enrichment of Shank3
  JOURNAL   eNeuro 8 (3) (2021)
   PUBMED   33568460
  REMARK    GeneRIF: CaMKII Phosphorylation Regulates Synaptic Enrichment of
            Shank3.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 418)
  AUTHORS   Wen Z, Zhong Z and Darnell JE Jr.
  TITLE     Maximal activation of transcription by Stat1 and Stat3 requires
            both tyrosine and serine phosphorylation
  JOURNAL   Cell 82 (2), 241-250 (1995)
   PUBMED   7543024
REFERENCE   7  (residues 1 to 418)
  AUTHORS   Countaway JL, Nairn AC and Davis RJ.
  TITLE     Mechanism of desensitization of the epidermal growth factor
            receptor protein-tyrosine kinase
  JOURNAL   J Biol Chem 267 (2), 1129-1140 (1992)
   PUBMED   1309762
REFERENCE   8  (residues 1 to 418)
  AUTHORS   Ikebe M and Reardon S.
  TITLE     Phosphorylation of smooth myosin light chain kinase by smooth
            muscle Ca2+/calmodulin-dependent multifunctional protein kinase
  JOURNAL   J Biol Chem 265 (16), 8975-8978 (1990)
   PUBMED   2160950
REFERENCE   9  (residues 1 to 418)
  AUTHORS   Czernik AJ, Pang DT and Greengard P.
  TITLE     Amino acid sequences surrounding the cAMP-dependent and
            calcium/calmodulin-dependent phosphorylation sites in rat and
            bovine synapsin I
  JOURNAL   Proc Natl Acad Sci U S A 84 (21), 7518-7522 (1987)
   PUBMED   3118371
REFERENCE   10 (residues 1 to 418)
  AUTHORS   Vulliet,P.R., Woodgett,J.R. and Cohen,P.
  TITLE     Phosphorylation of tyrosine hydroxylase by calmodulin-dependent
            multiprotein kinase
  JOURNAL   J Biol Chem 259 (22), 13680-13683 (1984)
   PUBMED   6150037
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL596247.22 and AC022400.9.
            
            Summary: The product of this gene is one of the four subunits of an
            enzyme which belongs to the serine/threonine protein kinase family,
            and to the Ca(2+)/calmodulin-dependent protein kinase subfamily.
            Calcium signaling is crucial for several aspects of plasticity at
            glutamatergic synapses. In mammalian cells the enzyme is composed
            of four different chains: alpha, beta, gamma, and delta. The
            product of this gene is a gamma chain. Many alternatively spliced
            transcripts encoding different isoforms have been described but the
            full-length nature of all the variants has not been
            determined.[provided by RefSeq, Mar 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.2"
     Protein         1..418
                     /product="calcium/calmodulin-dependent protein kinase type
                     II subunit gamma isoform 31"
                     /EC_number="2.7.11.17"
                     /note="calcium/calmodulin-dependent protein kinase (CaM
                     kinase) II gamma; calcium/calmodulin-dependent protein
                     kinase type II subunit gamma; caMK-II subunit gamma"
                     /calculated_mol_wt=46399
     Region          <11..199
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          259..>314
                     /region_name="NTF2_like"
                     /note="Nuclear transport factor 2 (NTF2-like) superfamily.
                     This family includes members of the NTF2 family,
                     Delta-5-3-ketosteroid isomerases, Scytalone Dehydratases,
                     and the beta subunit of Ring hydroxylating dioxygenases.
                     This family is a classic example of...; cl09109"
                     /db_xref="CDD:447678"
     CDS             1..418
                     /gene="CAMK2G"
                     /gene_synonym="CAMK; CAMK-II; CAMKG; MRD59"
                     /coded_by="NM_001367538.1:286..1542"
                     /note="isoform 31 is encoded by transcript variant 31"
                     /db_xref="GeneID:818"
                     /db_xref="HGNC:HGNC:1463"
                     /db_xref="MIM:602123"
ORIGIN      
        1 mstsetskhr hcihqilesv nhihqhdivh rdlkpenlll askckgaavk ladfglaiev
       61 qgeqqawfgf agtpgylspe vlrkdpygkp vdiwacgvil yillvgyppf wdedqhklyq
      121 qikagaydfp spewdtvtpe aknlinqmlt inpakritad qalkhpwvcq rstvasmmhr
      181 qetveclrkf narrklkgai lttmlvsrnf saaksllnkk sdggvkepqt tvvhnatdgi
      241 kgstescntt tededlkvrk qeiikiteql ieainngdfe aytkicdpgl tsfepealgn
      301 lvegmdfhkf yfenrewvra adillpaplp lclcllltfs sqlptfplfd lraalllcml
      361 vplcpdgcrq aplkalllss kchsfcscfv avpvttiklt yflpgavaya cnpntlgg
//
LOCUS       NP_001393508             532 aa            linear   PRI 24-MAR-2023
DEFINITION  bone morphogenetic protein receptor type-1A isoform 3 precursor
            [Homo sapiens].
ACCESSION   NP_001393508
VERSION     NP_001393508.1
DBSOURCE    REFSEQ: accession NM_001406579.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 532)
  AUTHORS   Rosner G, Petel-Galil Y, Laish I, Levi Z, Kariv R, Strul H, Gilad O
            and Gluck N.
  TITLE     Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant
            Carriers
  JOURNAL   Clin Transl Gastroenterol 13 (10), e00527 (2022)
   PUBMED   36049049
  REMARK    GeneRIF: Adenomatous Polyposis Phenotype in BMPR1A and SMAD4
            Variant Carriers.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 532)
  AUTHORS   Jiang B, Zhao X, Chen W, Diao W, Ding M, Qin H, Li B, Cao W, Chen
            W, Fu Y, He K, Gao J, Chen M, Lin T, Deng Y, Yan C and Guo H.
  TITLE     Lysosomal protein transmembrane 5 promotes lung-specific metastasis
            by regulating BMPR1A lysosomal degradation
  JOURNAL   Nat Commun 13 (1), 4141 (2022)
   PUBMED   35842443
  REMARK    GeneRIF: Lysosomal protein transmembrane 5 promotes lung-specific
            metastasis by regulating BMPR1A lysosomal degradation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 532)
  AUTHORS   Qiao Q, Xu L, Li Q, Wang Y, Lu H, Zhao N, Pu Y, Wang L, Guo Y and
            Guo C.
  TITLE     Bone morphogenetic protein receptor 1alpha promotes osteolytic
            lesion of oral squamous cell carcinoma by SHH-dependent
            osteoclastogenesis
  JOURNAL   Cancer Sci 113 (5), 1639-1651 (2022)
   PUBMED   35279920
  REMARK    GeneRIF: Bone morphogenetic protein receptor 1alpha promotes
            osteolytic lesion of oral squamous cell carcinoma by SHH-dependent
            osteoclastogenesis.
REFERENCE   4  (residues 1 to 532)
  AUTHORS   Huang T, Wu Q, Huang H, Zhang C, Wang L, Wang L, Liu Y, Li W, Zhang
            J and Liu Y.
  TITLE     Expression of GALNT8 and O-glycosylation of BMP receptor 1A
            suppress breast cancer cell proliferation by upregulating ERalpha
            levels
  JOURNAL   Biochim Biophys Acta Gen Subj 1866 (1), 130046 (2022)
   PUBMED   34743989
  REMARK    GeneRIF: Expression of GALNT8 and O-glycosylation of BMP receptor
            1A suppress breast cancer cell proliferation by upregulating
            ERalpha levels.
REFERENCE   5  (residues 1 to 532)
  AUTHORS   Chauvin M, Garambois V, Choblet S, Colombo PE, Chentouf M, Gros L,
            De Brauwere DP, Duonor-Cerutti M, Dumas K, Robert B, Jarlier M,
            Martineau P, Navarro-Teulon I, Pepin D, Chardes T and Pelegrin A.
  TITLE     Anti-Mullerian hormone concentration regulates activin
            receptor-like kinase-2/3 expression levels with opposing effects on
            ovarian cancer cell survival
  JOURNAL   Int J Oncol 59 (1) (2021)
   PUBMED   34013359
  REMARK    GeneRIF: Anti-Mullerian hormone concentration regulates activin
            receptor-like kinase-2/3 expression levels with opposing effects on
            ovarian cancer cell survival.
REFERENCE   6  (residues 1 to 532)
  AUTHORS   Yamada N, Kato M, ten Dijke P, Yamashita H, Sampath TK, Heldin CH,
            Miyazono K and Funa K.
  TITLE     Bone morphogenetic protein type IB receptor is progressively
            expressed in malignant glioma tumours
  JOURNAL   Br J Cancer 73 (5), 624-629 (1996)
   PUBMED   8605097
REFERENCE   7  (residues 1 to 532)
  AUTHORS   Ishidou Y, Kitajima I, Obama H, Maruyama I, Murata F, Imamura T,
            Yamada N, ten Dijke P, Miyazono K and Sakou T.
  TITLE     Enhanced expression of type I receptors for bone morphogenetic
            proteins during bone formation
  JOURNAL   J Bone Miner Res 10 (11), 1651-1659 (1995)
   PUBMED   8592941
REFERENCE   8  (residues 1 to 532)
  AUTHORS   Liu F, Ventura F, Doody J and Massague J.
  TITLE     Human type II receptor for bone morphogenic proteins (BMPs):
            extension of the two-kinase receptor model to the BMPs
  JOURNAL   Mol Cell Biol 15 (7), 3479-3486 (1995)
   PUBMED   7791754
REFERENCE   9  (residues 1 to 532)
  AUTHORS   ten Dijke P, Ichijo H, Franzen P, Schulz P, Saras J, Toyoshima H,
            Heldin CH and Miyazono K.
  TITLE     Activin receptor-like kinases: a novel subclass of cell-surface
            receptors with predicted serine/threonine kinase activity
  JOURNAL   Oncogene 8 (10), 2879-2887 (1993)
   PUBMED   8397373
REFERENCE   10 (residues 1 to 532)
  AUTHORS   Larsen Haidle,J., MacFarland,S.P. and Howe,J.R.
  TITLE     Juvenile Polyposis Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301642
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067750.5, AC021036.6 and
            AC025268.8.
            
            Summary: The bone morphogenetic protein (BMP) receptors are a
            family of transmembrane serine/threonine kinases that include the
            type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2.
            These receptors are also closely related to the activin receptors,
            ACVR1 and ACVR2. The ligands of these receptors are members of the
            TGF-beta superfamily. TGF-betas and activins transduce their
            signals through the formation of heteromeric complexes with 2
            different types of serine (threonine) kinase receptors: type I
            receptors of about 50-55 kD and type II receptors of about 70-80
            kD. Type II receptors bind ligands in the absence of type I
            receptors, but they require their respective type I receptors for
            signaling, whereas type I receptors require their respective type
            II receptors for ligand binding. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1951168.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267752 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..532
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.2"
     Protein         1..532
                     /product="bone morphogenetic protein receptor type-1A
                     isoform 3 precursor"
                     /EC_number="2.7.11.30"
                     /note="serine/threonine-protein kinase receptor R5;
                     activin A receptor, type II-like kinase 3; BMP type-1A
                     receptor; activin receptor-like kinase 3; bone
                     morphogenetic protein receptor, type IA"
                     /calculated_mol_wt=57488
     sig_peptide     1..23
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P36894.2)"
                     /calculated_mol_wt=2728
     mat_peptide     24..532
                     /product="Bone morphogenetic protein receptor type-1A.
                     /id=PRO_0000024410"
                     /note="propagated from UniProtKB/Swiss-Prot (P36894.2)"
                     /calculated_mol_wt=57488
     Region          59..132
                     /region_name="Activin_recp"
                     /note="Activin types I and II receptor domain; pfam01064"
                     /db_xref="CDD:426025"
     Site            73
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P36894.2)"
     Region          107..109
                     /region_name="Mediates specificity for BMP ligand.
                     /evidence=ECO:0000269|PubMed:22799562"
                     /note="propagated from UniProtKB/Swiss-Prot (P36894.2)"
     Site            153..176
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P36894.2)"
     Region          205..232
                     /region_name="TGF_beta_GS"
                     /note="Transforming growth factor beta type I GS-motif;
                     pfam08515"
                     /db_xref="CDD:430045"
     Region          238..524
                     /region_name="STKc_BMPR1a"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Bone Morphogenetic Protein Type IA Receptor; cd14220"
                     /db_xref="CDD:271122"
     Site            order(240..244,248,259,261,289,309..312,316,318,362,364,
                     366..367,369,380,383,403..406)
                     /site_type="active"
                     /db_xref="CDD:271122"
     Site            order(240..246,248,259,261,309..310,312,316,366..367,369,
                     380)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271122"
     Site            order(244,316,318,362,364,366,383,403..406)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271122"
     Site            order(271..272,275..276,279,294,296)
                     /site_type="other"
                     /note="FKBP12 binding site [polypeptide binding]"
                     /db_xref="CDD:271122"
     Site            379..406
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271122"
     CDS             1..532
                     /gene="BMPR1A"
                     /gene_synonym="10q23del; ACVRLK3; ALK-3; ALK3; BMPR-1A;
                     CD292; SKR5"
                     /coded_by="NM_001406579.1:969..2567"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 22"
                     /db_xref="GeneID:657"
                     /db_xref="HGNC:HGNC:1076"
                     /db_xref="MIM:601299"
ORIGIN      
        1 mpqlyiyirl lgaylfiisr vqgqnldsml hgtgmksdsd qkksengvtl apedtlpflk
       61 cycsghcpdd ainntcitng hcfaiieedd qgettlasgc mkyegsdfqc kdspkaqlrr
      121 tieccrtnlc nqylqptlpp vvigpffdgs irwlvllism avciiamiif sscfcykhyc
      181 ksissrrryn rdleqdeafi pvgeslkdli dqsqssgsgs glpllvqrti akqiqmvrqv
      241 gkgrygevwm gkwrgekvav kvfftteeas wfreteiyqt vlmrhenilg fiaadikgtg
      301 swtqlylitd yhengslydf lkcatldtra llklaysaac glchlhteiy gtqgkpaiah
      361 rdlksknili kkngscciad lglavkfnsd tnevdvplnt rvgtkrymap evldeslnkn
      421 hfqpyimadi ysfgliiwem arrcitggiv eeyqlpyynm vpsdpsyedm revvcvkrlr
      481 pivsnrwnsd eclravlklm secwahnpas rltalrikkt lakmvesqdv ki
//
LOCUS       NP_059127                489 aa            linear   PRI 24-MAR-2023
DEFINITION  5'-AMP-activated protein kinase subunit gamma-3 [Homo sapiens].
ACCESSION   NP_059127
VERSION     NP_059127.2
DBSOURCE    REFSEQ: accession NM_017431.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 489)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   2  (residues 1 to 489)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 489)
  AUTHORS   Wang S, Huo D, Ogundiran TO, Ojengbede O, Zheng W, Nathanson KL,
            Nemesure B, Ambs S, Olopade OI and Zheng Y.
  TITLE     Association of breast cancer risk and the mTOR pathway in women of
            African ancestry in 'The Root' Consortium
  JOURNAL   Carcinogenesis 38 (8), 789-796 (2017)
   PUBMED   28582508
  REMARK    GeneRIF: The mTOR pathway was significantly associated with overall
            and estrogen receptor-negative (ER-) breast cancer risk (P = 0.003
            and 0.03, respectively). PRKAG3 (Padj = 0.0018) and RPS6KA3 (Padj =
            0.061) were the leading genes for the associations with overall
            breast cancer risk and ER- breast cancer risk, respectively.
REFERENCE   4  (residues 1 to 489)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 489)
  AUTHORS   Willows R, Navaratnam N, Lima A, Read J and Carling D.
  TITLE     Effect of different gamma-subunit isoforms on the regulation of
            AMPK
  JOURNAL   Biochem J 474 (10), 1741-1754 (2017)
   PUBMED   28302767
  REMARK    GeneRIF: Data suggest different gamma-isoforms in AMPK can have
            different effects on enzyme activation; here, activation of AMPK by
            compound 991 is greater if AMPK contains PRKAG2 versus PRKAG1 or
            PRKAG3.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 489)
  AUTHORS   Jeon JT, Park EW, Jeon HJ, Kim TH, Lee KT and Cheong IC.
  TITLE     A large-insert porcine library with sevenfold genome coverage: a
            tool for positional cloning of candidate genes for major
            quantitative traits
  JOURNAL   Mol Cells 16 (1), 113-116 (2003)
   PUBMED   14503854
REFERENCE   7  (residues 1 to 489)
  AUTHORS   Nielsen JN, Mustard KJ, Graham DA, Yu H, MacDonald CS, Pilegaard H,
            Goodyear LJ, Hardie DG, Richter EA and Wojtaszewski JF.
  TITLE     5'-AMP-activated protein kinase activity and subunit expression in
            exercise-trained human skeletal muscle
  JOURNAL   J Appl Physiol (1985) 94 (2), 631-641 (2003)
   PUBMED   12391032
REFERENCE   8  (residues 1 to 489)
  AUTHORS   Milan D, Jeon JT, Looft C, Amarger V, Robic A, Thelander M,
            Rogel-Gaillard C, Paul S, Iannuccelli N, Rask L, Ronne H, Lundstrom
            K, Reinsch N, Gellin J, Kalm E, Roy PL, Chardon P and Andersson L.
  TITLE     A mutation in PRKAG3 associated with excess glycogen content in pig
            skeletal muscle
  JOURNAL   Science 288 (5469), 1248-1251 (2000)
   PUBMED   10818001
  REMARK    GeneRIF: Functional analysis of the pig counterpart.
REFERENCE   9  (residues 1 to 489)
  AUTHORS   Cheung PC, Salt IP, Davies SP, Hardie DG and Carling D.
  TITLE     Characterization of AMP-activated protein kinase gamma-subunit
            isoforms and their role in AMP binding
  JOURNAL   Biochem J 346 Pt 3 (Pt 3), 659-669 (2000)
   PUBMED   10698692
REFERENCE   10 (residues 1 to 489)
  AUTHORS   Woods A, Cheung PC, Smith FC, Davison MD, Scott J, Beri RK and
            Carling D.
  TITLE     Characterization of AMP-activated protein kinase beta and gamma
            subunits. Assembly of the heterotrimeric complex in vitro
  JOURNAL   J Biol Chem 271 (17), 10282-10290 (1996)
   PUBMED   8626596
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009974.10.
            On May 12, 2004 this sequence version replaced NP_059127.1.
            
            Summary: The protein encoded by this gene is a regulatory subunit
            of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer
            consisting of an alpha catalytic subunit, and non-catalytic beta
            and gamma subunits. AMPK is an important energy-sensing enzyme that
            monitors cellular energy status. In response to cellular metabolic
            stresses, AMPK is activated, and thus phosphorylates and
            inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy
            beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in
            regulating de novo biosynthesis of fatty acid and cholesterol. This
            subunit is one of the gamma regulatory subunits of AMPK. It is
            dominantly expressed in skeletal muscle. Studies of the pig
            counterpart suggest that this subunit may play a key role in the
            regulation of energy metabolism in skeletal muscle. [provided by
            RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ249977.1, SRR14038193.1239984.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158800, SAMEA2162946
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000439262.7/ ENSP00000397133.3
            NMD candidate          :: translation inferred from conservation
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..489
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     Protein         1..489
                     /product="5'-AMP-activated protein kinase subunit gamma-3"
                     /note="5'-AMP-activated protein kinase, gamma-3 subunit;
                     AMPK gamma-3 chain; AMPK gamma3; AMPK subunit gamma-3;
                     protein kinase, AMP-activated, gamma 3 non-catalytic
                     subunit"
                     /calculated_mol_wt=54127
     Region          1..113
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UGI9.3)"
     Region          192..329
                     /region_name="CBS_euAMPK_gamma-like_repeat1"
                     /note="Two tandem repeats of the cystathionine
                     beta-synthase (CBS pair) domains found in AMP-activated
                     protein kinase gamma-like proteins, repeat 1; cd04618"
                     /db_xref="CDD:341388"
     Site            order(200,202..204,226..228,307,321,323,325..326,329)
                     /site_type="other"
                     /note="ligand binding site II [chemical binding]"
                     /db_xref="CDD:341388"
     Region          200..273
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341388"
     Site            order(226,240,244..245,248,285,307..309,325)
                     /site_type="other"
                     /note="ligand binding site I [chemical binding]"
                     /db_xref="CDD:341388"
     Region          285..329
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341388"
     Region          293..314
                     /region_name="AMPK pseudosubstrate"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UGI9.3)"
     Region          355..478
                     /region_name="CBS_euAMPK_gamma-like_repeat2"
                     /note="CBS pair domain found in 5'-AMP (adenosine
                     monophosphate)-activated protein kinase; cd04641"
                     /db_xref="CDD:341399"
     Site            order(356,358..360,382..384,454,467,469,471..472,475)
                     /site_type="other"
                     /note="ligand binding site II [chemical binding]"
                     /db_xref="CDD:341399"
     Region          356..421
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341399"
     Site            order(382,395,399..400,403,432,454..456,471)
                     /site_type="other"
                     /note="ligand binding site I [chemical binding]"
                     /db_xref="CDD:341399"
     Region          432..475
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341399"
     CDS             1..489
                     /gene="PRKAG3"
                     /gene_synonym="AMPKG3; SMGMQTL"
                     /coded_by="NM_017431.4:34..1503"
                     /db_xref="CCDS:CCDS2424.1"
                     /db_xref="GeneID:53632"
                     /db_xref="HGNC:HGNC:9387"
                     /db_xref="MIM:604976"
ORIGIN      
        1 mepglehalr rtpswsslgg sehqemsfle qenssswpsp avtssserir gkrrakalrw
       61 trqksveege ppgqgegprs rpaaestgle atfpkttpla qadpagvgtp ptgwdclpsd
      121 ctasaagsst ddvelatefp ateawecele glleerpalc lspqapfpkl gwddelrkpg
      181 aqiymrfmqe htcydamats sklvifdtml eikkaffalv angvraaplw dskkqsfvgm
      241 ltitdfilvl hryyrsplvq iyeieqhkie twreiylqgc fkplvsispn dslfeavytl
      301 iknrihrlpv ldpvsgnvlh ilthkrllkf lhifgsllpr psflyrtiqd lgigtfrdla
      361 vvletapilt aldifvdrrv salpvvnecg qvvglysrfd vihlaaqqty nhldmsvgea
      421 lrqrtlcleg vlscqphesl gevidriare qvhrlvlvde tqhllgvvsl sdilqalvls
      481 pagidalga
//
LOCUS       NP_001365886             764 aa            linear   PRI 25-MAR-2023
DEFINITION  splicing factor 1 isoform 12 [Homo sapiens].
ACCESSION   NP_001365886 XP_016873733
VERSION     NP_001365886.1
DBSOURCE    REFSEQ: accession NM_001378957.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 764)
  AUTHORS   Nameki N, Takizawa M, Suzuki T, Tani S, Kobayashi N, Sakamoto T,
            Muto Y and Kuwasako K.
  TITLE     Structural basis for the interaction between the first SURP domain
            of the SF3A1 subunit in U2 snRNP and the human splicing factor SF1
  JOURNAL   Protein Sci 31 (10), e4437 (2022)
   PUBMED   36173164
  REMARK    GeneRIF: Structural basis for the interaction between the first
            SURP domain of the SF3A1 subunit in U2 snRNP and the human splicing
            factor SF1.
REFERENCE   2  (residues 1 to 764)
  AUTHORS   Hu Z, Sun Y, Chen J, Zhao Y, Qiao H, Chen R, Wen X, Deng Y and Wen
            J.
  TITLE     Deoxynivalenol globally affects the selection of 3' splice sites in
            human cells by suppressing the splicing factors, U2AF1 and SF1
  JOURNAL   RNA Biol 17 (4), 584-595 (2020)
   PUBMED   31992135
  REMARK    GeneRIF: Deoxynivalenol globally affects the selection of 3' splice
            sites in human cells by suppressing the splicing factors, U2AF1 and
            SF1.
REFERENCE   3  (residues 1 to 764)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 764)
  AUTHORS   Chatrikhi R, Wang W, Gupta A, Loerch S, Maucuer A and Kielkopf CL.
  TITLE     SF1 Phosphorylation Enhances Specific Binding to U2AF65 and Reduces
            Binding to 3'-Splice-Site RNA
  JOURNAL   Biophys J 111 (12), 2570-2586 (2016)
   PUBMED   28002734
  REMARK    GeneRIF: SF1 Phosphorylation Enhances Specific Binding to U2AF(65)
            and Reduces Binding to 3'-Splice-Site RNA
REFERENCE   5  (residues 1 to 764)
  AUTHORS   Zhang D and Childs G.
  TITLE     Human ZFM1 protein is a transcriptional repressor that interacts
            with the transcription activation domain of stage-specific
            activator protein
  JOURNAL   J Biol Chem 273 (12), 6868-6877 (1998)
   PUBMED   9506990
REFERENCE   6  (residues 1 to 764)
  AUTHORS   Caslini C, Spinelli O, Cazzaniga G, Golay J, De Gioia L, Pedretti
            A, Breviario F, Amaru R, Barbui T, Biondi A, Introna M and Rambaldi
            A.
  TITLE     Identification of two novel isoforms of the ZNF162 gene: a growing
            family of signal transduction and activator of RNA proteins
  JOURNAL   Genomics 42 (2), 268-277 (1997)
   PUBMED   9192847
REFERENCE   7  (residues 1 to 764)
  AUTHORS   Abovich N and Rosbash M.
  TITLE     Cross-intron bridging interactions in the yeast commitment complex
            are conserved in mammals
  JOURNAL   Cell 89 (3), 403-412 (1997)
   PUBMED   9150140
REFERENCE   8  (residues 1 to 764)
  AUTHORS   Arning S, Gruter P, Bilbe G and Kramer A.
  TITLE     Mammalian splicing factor SF1 is encoded by variant cDNAs and binds
            to RNA
  JOURNAL   RNA 2 (8), 794-810 (1996)
   PUBMED   8752089
REFERENCE   9  (residues 1 to 764)
  AUTHORS   Toda T, Iida A, Miwa T, Nakamura Y and Imai T.
  TITLE     Isolation and characterization of a novel gene encoding nuclear
            protein at a locus (D11S636) tightly linked to multiple endocrine
            neoplasia type 1 (MEN1)
  JOURNAL   Hum Mol Genet 3 (3), 465-470 (1994)
   PUBMED   7912130
REFERENCE   10 (residues 1 to 764)
  AUTHORS   Kramer A.
  TITLE     Purification of splicing factor SF1, a heat-stable protein that
            functions in the assembly of a presplicing complex
  JOURNAL   Mol Cell Biol 12 (10), 4545-4552 (1992)
   PUBMED   1406644
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001462.3.
            On Mar 16, 2020 this sequence version replaced XP_016873733.1.
            
            Summary: This gene encodes a nuclear pre-mRNA splicing factor. The
            encoded protein specifically recognizes the intron branch point
            sequence at the 3' splice site, together with the large subunit of
            U2 auxiliary factor (U2AF), and is required for the early stages of
            spliceosome assembly. It also plays a role in nuclear pre-mRNA
            retention and transcriptional repression. The encoded protein
            contains an N-terminal U2AF ligand motif, a central hnRNP K
            homology motif and quaking 2 region which bind a key branch-site
            adenosine within the branch point sequence, a zinc knuckles domain,
            and a C-terminal proline-rich domain. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Oct 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.4235272.1,
                                           ERR4352442.377685.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..764
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     Protein         1..764
                     /product="splicing factor 1 isoform 12"
                     /note="zinc finger protein 162; transcription factor ZFM1;
                     branch point-binding protein; zinc finger gene in MEN1
                     locus; mammalian branch point-binding protein"
                     /calculated_mol_wt=80239
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.8,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q15637.4)"
     Region          142..382
                     /region_name="MSL5"
                     /note="Splicing factor (branch point binding protein) [RNA
                     processing and modification]; COG5176"
                     /db_xref="CDD:227503"
     Region          403..418
                     /region_name="ZnF_C2HC"
                     /note="zinc finger; smart00343"
                     /db_xref="CDD:197667"
     CDS             1..764
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /coded_by="NM_001378957.1:151..2445"
                     /note="isoform 12 is encoded by transcript variant 12"
                     /db_xref="CCDS:CCDS91502.1"
                     /db_xref="GeneID:7536"
                     /db_xref="HGNC:HGNC:12950"
                     /db_xref="MIM:601516"
ORIGIN      
        1 matganatpl gklgppglpp lpgpkggfep gpppapgpga gllapgpppp ppvgsmgalt
       61 aafpfaalpp pppppppppp qqpppppppp spgasypppq pppppplyqr vsppqppppq
      121 pprkdqqpgp aggggdfpsk krkrsrwnqd tmeqktvipg mptvippglt reqerayivq
      181 lqiedltrkl rtgdlgippn pedrspspep iynsegkrln trefrtrkkl eeerhnlite
      241 mvalnpdfkp padykppatr vsdkvmipqd eypeinfvgl ligprgntlk niekecnaki
      301 mirgkgsvke gkvgrkdgqm lpgedeplha lvtantmenv kkaveqirni lkqgietped
      361 qndlrkmqlr elarlngtlr eddnrilrpw qssetrsitn ttvctkcgga ghiasdckfq
      421 rpgdpqsaqd karmdkeyls lmaelgeapv pasvgstsgp attplasapr paapannppp
      481 pslmsttqsr ppwmnsgpse srpyhgmhgg gpggpgggph sfphplpslt gghgghpmqh
      541 npngppppwm qpppppmnqg phppghhgpp pmdqylgstp vgsgvyrlhq gkgmmppppm
      601 gmmppppppp sgqpppppsg plppwqqqqq qpppppppss smasstplpw qqntttttts
      661 agtgsippwq qqqaaaaasp gapqmqgnpt mvplppgvqp plppgapppp pppppgsagm
      721 myappppppp pmdpsnfvtm mgmgvagmpp fgmppapppp ppqn
//
LOCUS       NP_001394567            1861 aa            linear   PRI 25-MAR-2023
DEFINITION  breast cancer type 1 susceptibility protein isoform 14 [Homo
            sapiens].
ACCESSION   NP_001394567
VERSION     NP_001394567.1
DBSOURCE    REFSEQ: accession NM_001407638.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1861)
  AUTHORS   Orban TI and Olah E.
  TITLE     Emerging roles of BRCA1 alternative splicing
  JOURNAL   Mol Pathol 56 (4), 191-197 (2003)
   PUBMED   12890739
  REMARK    Review article
REFERENCE   2  (residues 1 to 1861)
  AUTHORS   Orban TI and Olah E.
  TITLE     Expression profiles of BRCA1 splice variants in asynchronous and in
            G1/S synchronized tumor cell lines
  JOURNAL   Biochem Biophys Res Commun 280 (1), 32-38 (2001)
   PUBMED   11162473
REFERENCE   3  (residues 1 to 1861)
  AUTHORS   Paterson JW.
  TITLE     BRCA1: a review of structure and putative functions
  JOURNAL   Dis Markers 13 (4), 261-274 (1998)
   PUBMED   9553742
  REMARK    Review article
REFERENCE   4  (residues 1 to 1861)
  AUTHORS   Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S,
            Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E.
  TITLE     Mutations and alternative splicing of the BRCA1 gene in UK
            breast/ovarian cancer families
  JOURNAL   Genes Chromosomes Cancer 18 (2), 102-110 (1997)
   PUBMED   9115959
REFERENCE   5  (residues 1 to 1861)
  AUTHORS   Wilson CA, Payton MN, Elliott GS, Buaas FW, Cajulis EE, Grosshans
            D, Ramos L, Reese DM, Slamon DJ and Calzone FJ.
  TITLE     Differential subcellular localization, expression and biological
            toxicity of BRCA1 and the splice variant BRCA1-delta11b
  JOURNAL   Oncogene 14 (1), 1-16 (1997)
   PUBMED   9010228
REFERENCE   6  (residues 1 to 1861)
  AUTHORS   Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, Yao J, Farid
            LM, Couch FJ, Wilson RB and Weber BL.
  TITLE     Localization of BRCA1 and a splice variant identifies the nuclear
            localization signal
  JOURNAL   Mol Cell Biol 17 (1), 444-452 (1997)
   PUBMED   8972225
REFERENCE   7  (residues 1 to 1861)
  AUTHORS   Lu M, Conzen SD, Cole CN and Arrick BA.
  TITLE     Characterization of functional messenger RNA splice variants of
            BRCA1 expressed in nonmalignant and tumor-derived breast cells
  JOURNAL   Cancer Res 56 (20), 4578-4581 (1996)
   PUBMED   8840964
REFERENCE   8  (residues 1 to 1861)
  AUTHORS   Holt JT, Thompson ME, Szabo C, Robinson-Benion C, Arteaga CL, King
            MC and Jensen RA.
  TITLE     Growth retardation and tumour inhibition by BRCA1
  JOURNAL   Nat Genet 12 (3), 298-302 (1996)
   PUBMED   8589721
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
REFERENCE   9  (residues 1 to 1861)
  AUTHORS   Xu CF, Brown MA, Chambers JA, Griffiths B, Nicolai H and Solomon E.
  TITLE     Distinct transcription start sites generate two forms of BRCA1 mRNA
  JOURNAL   Hum Mol Genet 4 (12), 2259-2264 (1995)
   PUBMED   8634696
REFERENCE   10 (residues 1 to 1861)
  AUTHORS   Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K,
            Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al.
  TITLE     A strong candidate for the breast and ovarian cancer susceptibility
            gene BRCA1
  JOURNAL   Science 266 (5182), 66-71 (1994)
   PUBMED   7545954
REFERENCE   11 (residues 1 to 1861)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
REFERENCE   12 (residues 1 to 1861)
  AUTHORS   Petrucelli,N., Daly,M.B. and Pal,T.
  TITLE     BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135721.4.
            
            Summary: This gene encodes a 190 kD nuclear phosphoprotein that
            plays a role in maintaining genomic stability, and it also acts as
            a tumor suppressor. The BRCA1 gene contains 22 exons spanning about
            110 kb of DNA. The encoded protein combines with other tumor
            suppressors, DNA damage sensors, and signal transducers to form a
            large multi-subunit protein complex known as the BRCA1-associated
            genome surveillance complex (BASC). This gene product associates
            with RNA polymerase II, and through the C-terminal domain, also
            interacts with histone deacetylase complexes. This protein thus
            plays a role in transcription, DNA repair of double-stranded
            breaks, and recombination. Mutations in this gene are responsible
            for approximately 40% of inherited breast cancers and more than 80%
            of inherited breast and ovarian cancers. Alternative splicing plays
            a role in modulating the subcellular localization and physiological
            function of this gene. Many alternatively spliced transcript
            variants, some of which are disease-associated mutations, have been
            described for this gene, but the full-length natures of only some
            of these variants has been described. A related pseudogene, which
            is also located on chromosome 17, has been identified. [provided by
            RefSeq, May 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1265437.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1861
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..1861
                     /product="breast cancer type 1 susceptibility protein
                     isoform 14"
                     /EC_number="2.3.2.27"
                     /note="BRCA1/BRCA2-containing complex, subunit 1; RING
                     finger protein 53; breast cancer type 1 susceptibility
                     protein; breast and ovarian cancer susceptibility protein
                     1; protein phosphatase 1, regulatory subunit 53; Fanconi
                     anemia, complementation group S; early onset breast cancer
                     1; breast cancer 1, early onset"
                     /calculated_mol_wt=207391
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          7..99
                     /region_name="RING-HC_BRCA1"
                     /note="RING finger, HC subclass, found in breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd16498"
                     /db_xref="CDD:438161"
     Site            order(7..8,10..11,13..15,17..18,20,22..23,38,40,42,72,74,
                     76..79,81..82,85..86,88..89,92..93,95..97)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:438161"
     Site            114
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          229..269
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          305..337
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          344..506
                     /region_name="BRCT_assoc"
                     /note="Serine-rich domain associated with BRCT; pfam12820"
                     /db_xref="CDD:432806"
     Site            394
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            397
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            422
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            433
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          533..569
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            550
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          653..708
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            693
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            707
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            724
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48754; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            752
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            839
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48754; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            987
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CHEK2.
                     /evidence=ECO:0000269|PubMed:10724175,
                     ECO:0000269|PubMed:20364141; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1008
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1142
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1180..1215
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1188
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1190
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1210
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1216
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1217
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1279
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1321..1386
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1327
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1335
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1341
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1386
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM and ATR.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1393
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1396..1423
                     /region_name="Interaction with PALB2.
                     /evidence=ECO:0000269|PubMed:19369211"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1422
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM and ATR.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1455
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1522
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM.
                     /evidence=ECO:0000269|PubMed:21144835; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1540
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1563..1594
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          1648..1744
                     /region_name="BRCT_BRCA1_rpt1"
                     /note="first BRCT domain of breast cancer type 1
                     susceptibility protein (BRCA1) and similar proteins;
                     cd17735"
                     /db_xref="CDD:349367"
     Site            order(1652..1654,1656,1696..1700,1702,1738)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349367"
     Region          1756..1853
                     /region_name="BRCT_BRCA1_rpt2"
                     /note="second (C-terminal) BRCT domain of breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd17721"
                     /db_xref="CDD:349353"
     Site            order(1772..1773,1833..1834,1838,1850..1851)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349353"
     CDS             1..1861
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /coded_by="NM_001407638.1:101..5686"
                     /note="isoform 14 is encoded by transcript variant 50"
                     /db_xref="GeneID:672"
                     /db_xref="HGNC:HGNC:1100"
                     /db_xref="MIM:113705"
ORIGIN      
        1 mdlsalrvee vqnvinamqk ilecpiclel ikepvstkcd hifckfcmlk llnqkkgpsq
       61 cplcknditk rslqestrfs qlveellkii cafqldtgle yansynfakk ennspehlkd
      121 evsiiqsmgy rnrakrllqs epenpslets lsvqlsnlgt vrtlrtkqri qpqktsvyie
      181 lgsdssedtv nkatycsvgd qellqitpqg trdeisldsa kkaacefset dvtntehhqp
      241 snndlnttek raaerhpeky qgssvsnlhv epcgtnthas slqhenssll ltkdrmnvek
      301 aefcnkskqp glarsqhnrw agsketcndr rtpstekkvd lnadplcerk ewnkqklpcs
      361 enprdtedvp witlnssiqk vnewfsrsde llgsddshdg esesnakvad vldvlnevde
      421 ysgssekidl lasdpheali ckservhsks vesniedkif gktyrkkasl pnlshvtenl
      481 iigafvtepq iiqerpltnk lkrkrrptsg lhpedfikka dlavqktpem inqgtnqteq
      541 ngqvmnitns ghenktkgds iqneknpnpi eslekesafk tkaepisssi snmelelnih
      601 nskapkknrl rrksstrhih alelvvsrnl sppnctelqi dscssseeik kkkynqmpvr
      661 hsrnlqlmeg kepatgakks nkpneqtskr hdsdtfpelk ltnapgsftk csntselkef
      721 vnpslpreek eekletvkvs nnaedpkdlm lsgervlqte rsvesssisl vpgtdygtqe
      781 sisllevstl gkaktepnkc vsqcaafenp kglihgcskd nrndtegfky plghevnhsr
      841 etsiemeese ldaqylqntf kvskrqsfap fsnpgnaeee catfsahsgs lkkqspkvtf
      901 eceqkeenqg knesnikpvq tvnitagfpv vgqkdkpvdn akcsikggsr fclssqfrgn
      961 etglitpnkh gllqnpyrip plfpiksfvk tkckknllee nfeehsmspe remgnenips
     1021 tvstisrnni renvfkeass sninevgsst nevgssinei gssdeniqae lgrnrgpkln
     1081 amlrlgvlqp evykqslpgs nckhpeikkq eyeevvqtvn tdfspylisd nleqpmgssh
     1141 asqvcsetpd dllddgeike dtsfaendik essavfsksv qkgelsrsps pfththlaqg
     1201 yrrgakkles seenlssede elpcfqhllf gkvnnipsqs trhstvatec lsknteenll
     1261 slknslndcs nqvilakasq ehhlseetkc saslfssqcs eledltantn tqdpfligss
     1321 kqmrhqsesq gvglsdkelv sddeergtgl eennqeeqsm dsnlgeaasg cesetsvsed
     1381 csglssqsdi lttqqrdtmq hnliklqqem aeleavleqh gsqpsnsyps iisdssaled
     1441 lrnpeqstse kvltsqksse ypisqnpegl sadkfevsad sstsknkepg versspskcp
     1501 slddrwymhs csgslqnrny psqeelikvv dveeqqlees gphdltetsy lprqdlegtp
     1561 ylesgislfs ddpesdpsed rapesarvgn ipsstsalkv pqlkvaesaq spaaahttdt
     1621 agynameesv srekpeltas tervnkrmsm vvsgltpeef mlvykfarkh hitltnlite
     1681 etthvvmktd aefvcertlk yflgiaggkw vvsyfwvtqs ikerkmlneh dfevrgdvvn
     1741 grnhqgpkra resqdrkifr gleiccygpf tnmptdqlew mvqlcgasvv kelssftlgt
     1801 gvhpivvvqp dawtedngfh aigqmceapv vtrewvldsv alyqcqeldt ylipqiphsh
     1861 y
//
LOCUS       NP_001353402             906 aa            linear   PRI 26-MAR-2023
DEFINITION  histone-lysine N-methyltransferase MECOM isoform h [Homo sapiens].
ACCESSION   NP_001353402 XP_005247283
VERSION     NP_001353402.1
DBSOURCE    REFSEQ: accession NM_001366473.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 906)
  AUTHORS   Liu XX, Pan XA, Gao MG, Kong J, Jiang H, Chang YJ, Zhang XH, Wang
            Y, Liu KY, Chen Z, Zhao XS and Huang XJ.
  TITLE     The adverse impact of ecotropic viral integration site-1 (EVI1)
            overexpression on the prognosis of acute myeloid leukemia with
            KMT2A gene rearrangement in different risk stratification subtypes
  JOURNAL   Int J Lab Hematol 45 (2), 195-203 (2023)
   PUBMED   36358022
  REMARK    GeneRIF: The adverse impact of ecotropic viral integration site-1
            (EVI1) overexpression on the prognosis of acute myeloid leukemia
            with KMT2A gene rearrangement in different risk stratification
            subtypes.
REFERENCE   2  (residues 1 to 906)
  AUTHORS   Vinothkumar K, Chanda S, Singh VK, Biswas S, Mohapatra S, Biswas G
            and Chakraborty S.
  TITLE     EVI1 upregulates PTGS1 (COX1) and decreases the action of tyrosine
            kinase inhibitors (TKIs) in chronic myeloid leukemia cells
  JOURNAL   Int J Hematol 117 (1), 110-120 (2023)
   PUBMED   36282419
  REMARK    GeneRIF: EVI1 upregulates PTGS1 (COX1) and decreases the action of
            tyrosine kinase inhibitors (TKIs) in chronic myeloid leukemia
            cells.
REFERENCE   3  (residues 1 to 906)
  AUTHORS   Huber S, Haferlach T, Meggendorfer M, Hutter S, Hoermann G, Baer C,
            Kern W and Haferlach C.
  TITLE     SF3B1 mutations in AML are strongly associated with MECOM
            rearrangements and may be indicative of an MDS pre-phase
  JOURNAL   Leukemia 36 (12), 2927-2930 (2022)
   PUBMED   36271152
  REMARK    GeneRIF: SF3B1 mutations in AML are strongly associated with MECOM
            rearrangements and may be indicative of an MDS pre-phase.
REFERENCE   4  (residues 1 to 906)
  AUTHORS   Shen F, Yang Y, Zheng Y, Li P, Luo Z, Fu Y, Zhu G, Mei H, Chen S
            and Zhu Y.
  TITLE     MECOM-related disorder: Radioulnar synostosis without hematological
            aberration due to unique variants
  JOURNAL   Genet Med 24 (5), 1139-1147 (2022)
   PUBMED   35219593
  REMARK    GeneRIF: MECOM-related disorder: Radioulnar synostosis without
            hematological aberration due to unique variants.
REFERENCE   5  (residues 1 to 906)
  AUTHORS   Haas K, Kundi M, Sperr WR, Esterbauer H, Ludwig WD, Ratei R, Koller
            E, Gruener H, Sauerland C, Fonatsch C, Valent P and Wieser R.
  TITLE     Expression and prognostic significance of different mRNA 5'-end
            variants of the oncogene EVI1 in 266 patients with de novo AML:
            EVI1 and MDS1/EVI1 overexpression both predict short remission
            duration
  JOURNAL   Genes Chromosomes Cancer 47 (4), 288-298 (2008)
   PUBMED   18181178
  REMARK    GeneRIF: EVI1 and MDS1/EVI1 overexpression is associated with acute
            myeloid leukemia
REFERENCE   6  (residues 1 to 906)
  AUTHORS   Aytekin M, Vinatzer U, Musteanu M, Raynaud S and Wieser R.
  TITLE     Regulation of the expression of the oncogene EVI1 through the use
            of alternative mRNA 5'-ends
  JOURNAL   Gene 356, 160-168 (2005)
   PUBMED   16014322
  REMARK    GeneRIF: The general expression patterns of the EVI1 5'-end
            variants in a panel of 20 human tissues were similar, while
            pronounced differences were noted in response to all-trans retinoic
            acid.
REFERENCE   7  (residues 1 to 906)
  AUTHORS   Mochizuki N, Shimizu S, Nagasawa T, Tanaka H, Taniwaki M, Yokota J
            and Morishita K.
  TITLE     A novel gene, MEL1, mapped to 1p36.3 is highly homologous to the
            MDS1/EVI1 gene and is transcriptionally activated in
            t(1;3)(p36;q21)-positive leukemia cells
  JOURNAL   Blood 96 (9), 3209-3214 (2000)
   PUBMED   11050005
REFERENCE   8  (residues 1 to 906)
  AUTHORS   Nucifora G, Begy CR, Kobayashi H, Roulston D, Claxton D,
            Pedersen-Bjergaard J, Parganas E, Ihle JN and Rowley JD.
  TITLE     Consistent intergenic splicing and production of multiple
            transcripts between AML1 at 21q22 and unrelated genes at 3q26 in
            (3;21)(q26;q22) translocations
  JOURNAL   Proc Natl Acad Sci U S A 91 (9), 4004-4008 (1994)
   PUBMED   8171026
REFERENCE   9  (residues 1 to 906)
  AUTHORS   Mitani K, Ogawa S, Tanaka T, Miyoshi H, Kurokawa M, Mano H, Yazaki
            Y, Ohki M and Hirai H.
  TITLE     Generation of the AML1-EVI-1 fusion gene in the t(3;21)(q26;q22)
            causes blastic crisis in chronic myelocytic leukemia
  JOURNAL   EMBO J 13 (3), 504-510 (1994)
   PUBMED   8313895
REFERENCE   10 (residues 1 to 906)
  AUTHORS   Morishita K, Parganas E, Douglass EC and Ihle JN.
  TITLE     Unique expression of the human Evi-1 gene in an endometrial
            carcinoma cell line: sequence of cDNAs and structure of
            alternatively spliced transcripts
  JOURNAL   Oncogene 5 (7), 963-971 (1990)
   PUBMED   2115646
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL700380.1, DC417787.1,
            DB225328.1, BG427944.1, BC031019.1 and AC078985.14.
            On Oct 6, 2018 this sequence version replaced XP_005247283.1.
            
            Summary: The protein encoded by this gene is a transcriptional
            regulator and oncoprotein that may be involved in hematopoiesis,
            apoptosis, development, and cell differentiation and proliferation.
            The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B,
            MAPK8, and MAPK9. This gene can undergo translocation with the AML1
            gene, resulting in overexpression of this gene and the onset of
            leukemia. Several transcript variants encoding a few different
            isoforms have been found for this gene. [provided by RefSeq, Mar
            2011].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.1923844.1,
                                           SRR18074969.2732268.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..906
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.2"
     Protein         1..906
                     /product="histone-lysine N-methyltransferase MECOM isoform
                     h"
                     /EC_number="2.1.1.367"
                     /note="MDS1 and EVI1 complex locus protein EVI1; MDS1 and
                     EVI1 complex locus protein MDS1; oncogene EVI1;
                     myelodysplasia syndrome-associated protein 1; zinc finger
                     protein Evi1; AML1-EVI-1 fusion protein; PR domain 3;
                     ecotropic virus integration site 1 protein homolog;
                     histone-lysine N-methyltransferase MECOM"
                     /calculated_mol_wt=102752
     Region          47..204
                     /region_name="PR-SET_PRDM3"
                     /note="PR-SET domain found in MDS1 and EVI1 complex locus
                     protein and similar proteins; cd19214"
                     /db_xref="CDD:380991"
     Site            order(87,90..92,109,136,149..153,155,164..165,189)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:380991"
     Site            order(87,90..92,149..153,155,189)
                     /site_type="other"
                     /note="putative SAM binding site"
                     /db_xref="CDD:380991"
     Region          211..260
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          265..285
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          289..>631
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          293..313
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(298,300,302,304..305,308..309,312,326,328,332..333,
                     336..337,340,355,357,359,361..362,365..366,369)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          321..342
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          350..370
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          590..610
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(595,597,599,601..602,605..606,609,623,625,629..630,
                     633..634,638,652,654,656,658..659,662..663,666)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          618..639
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          645..667
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          647..667
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..906
                     /gene="MECOM"
                     /gene_synonym="AML1-EVI-1; EVI1; KMT8E; MDS1; MDS1-EVI1;
                     PRDM3; RUSAT2"
                     /coded_by="NM_001366473.2:341..3061"
                     /note="isoform h is encoded by transcript variant 15"
                     /db_xref="GeneID:2122"
                     /db_xref="HGNC:HGNC:3498"
                     /db_xref="MIM:165215"
ORIGIN      
        1 mrskgrarkl atnnecvygn ypeipleemp dadgvastps lniqepcspa tsseaftpke
       61 gspykapiyi pddipipaef elresnmpga glgiwtkrki evgekfgpyv geqrsnlkdp
      121 sygweildef ynvkfcidas qpdvgswlky irfagcydqh nlvacqindq ifyrvvadia
      181 pgeelllfmk sedyphetma pdiheerqyr cedcdqlfes kaeladhqkf pcstphsafs
      241 mveedfqqkl esendlqeih tiqeckecdq vfpdlqslek hmlshteere ykcdqcpkaf
      301 nwksnlirhq mshdsgkhye cencakvftd psnlqrhirs qhvgarahac pecgktfats
      361 sglkqhkhih ssvkpfisfs qsmypfpdrd lrslplkmep qspgevkklq kgssespfdl
      421 ttkrkdekpl tpvpskppvt patsqdqpld lsmgsrsras gtklteprkn hvfggkkgsn
      481 vesrpasdgs lqharptpff mdpiyrvekr kltdplealk ekylrpspgf lfhpqmsaie
      541 nmaeklesfs alkpeasell qsvpsmfnfr appnalpenl lrkgkerytc rycgkifprs
      601 anltrhlrth tgeqpyrcky cdrsfsissn lqrhvrnihn kekpfkchlc drcfgqqtnl
      661 drhlkkheng nmsgtatssp hselestgai lddkedayft eirnfignsn hgsqsprnve
      721 ermngshfkd ekalvtsqns dllddeeved evlldeeded nditgktgke pvtsnlhegn
      781 peddyeetsa lemscktspv rykeeeyksg lsaldhirhf tdslkmrkme dnqyseaels
      841 sfstshvpee lkqplhrksk sqayammlsl sdkeslhsts hsssnvwhsm araaaessai
      901 qsishv
//
LOCUS       NP_659497                255 aa            linear   PRI 10-APR-2023
DEFINITION  spindle and kinetochore-associated protein 1 [Homo sapiens].
ACCESSION   NP_659497
VERSION     NP_659497.1
DBSOURCE    REFSEQ: accession NM_145060.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 255)
  AUTHORS   Tuo H, Liu R, Wang Y, Yang W and Liu Q.
  TITLE     Hypoxia-induced lncRNA MRVI1-AS1 accelerates hepatocellular
            carcinoma progression by recruiting RNA-binding protein CELF2 to
            stabilize SKA1 mRNA
  JOURNAL   World J Surg Oncol 21 (1), 111 (2023)
   PUBMED   36973749
  REMARK    GeneRIF: Hypoxia-induced lncRNA MRVI1-AS1 accelerates
            hepatocellular carcinoma progression by recruiting RNA-binding
            protein CELF2 to stabilize SKA1 mRNA.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 255)
  AUTHORS   Li Z, Liu J, Peng H, Li C, Liu Y and Xie W.
  TITLE     SKA1 is overexpressed in laryngocarcinoma and modulates cell growth
            via P53 signaling pathway
  JOURNAL   Cell Cycle 22 (6), 693-704 (2023)
   PUBMED   36397719
  REMARK    GeneRIF: SKA1 is overexpressed in laryngocarcinoma and modulates
            cell growth via P53 signaling pathway.
REFERENCE   3  (residues 1 to 255)
  AUTHORS   Radhakrishnan RM, Kizhakkeduth ST, Nair VM, Ayyappan S, Lakshmi RB,
            Babu N, Prasannajith A, Umeda K, Vijayan V, Kodera N and Manna TK.
  TITLE     Kinetochore-microtubule attachment in human cells is regulated by
            the interaction of a conserved motif of Ska1 with EB1
  JOURNAL   J Biol Chem 299 (2), 102853 (2023)
   PUBMED   36592928
  REMARK    GeneRIF: Kinetochore-microtubule attachment in human cells is
            regulated by the interaction of a conserved motif of Ska1 with EB1.
REFERENCE   4  (residues 1 to 255)
  AUTHORS   Pu Y, Han J, Zhang M, Liu M, Abdusamat G and Liu H.
  TITLE     SKA1 promotes tumor metastasis via SAFB-mediated transcription
            repression of DUSP6 in clear cell renal cell carcinoma
  JOURNAL   Aging (Albany NY) 14 (23), 9679-9698 (2022)
   PUBMED   36462498
  REMARK    GeneRIF: SKA1 promotes tumor metastasis via SAFB-mediated
            transcription repression of DUSP6 in clear cell renal cell
            carcinoma.
REFERENCE   5  (residues 1 to 255)
  AUTHORS   Sun MC, Fang K, Li ZX, Chu Y, Xu AP, Zhao ZY, Leng ZY, Zhang YW,
            Zhang ZH, Zhang L, Chen T and Xu MD.
  TITLE     ETV5 overexpression promotes progression of esophageal squamous
            cell carcinoma by upregulating SKA1 and TRPV2
  JOURNAL   Int J Med Sci 19 (6), 1072-1081 (2022)
   PUBMED   35813298
  REMARK    GeneRIF: ETV5 overexpression promotes progression of esophageal
            squamous cell carcinoma by upregulating SKA1 and TRPV2.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 255)
  AUTHORS   Lampert F and Westermann S.
  TITLE     A blueprint for kinetochores - new insights into the molecular
            mechanics of cell division
  JOURNAL   Nat Rev Mol Cell Biol 12 (7), 407-412 (2011)
   PUBMED   21633384
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 255)
  AUTHORS   Gaitanos TN, Santamaria A, Jeyaprakash AA, Wang B, Conti E and Nigg
            EA.
  TITLE     Stable kinetochore-microtubule interactions depend on the Ska
            complex and its new component Ska3/C13Orf3
  JOURNAL   EMBO J 28 (10), 1442-1452 (2009)
   PUBMED   19360002
REFERENCE   8  (residues 1 to 255)
  AUTHORS   Welburn JP, Grishchuk EL, Backer CB, Wilson-Kubalek EM, Yates JR
            3rd and Cheeseman IM.
  TITLE     The human kinetochore Ska1 complex facilitates microtubule
            depolymerization-coupled motility
  JOURNAL   Dev Cell 16 (3), 374-385 (2009)
   PUBMED   19289083
  REMARK    GeneRIF: The full Ska1 complex forms assemblies on microtubules
            that can facilitate the processive movement of microspheres along
            depolymerizing microtubules.
REFERENCE   9  (residues 1 to 255)
  AUTHORS   Hanisch A, Sillje HH and Nigg EA.
  TITLE     Timely anaphase onset requires a novel spindle and kinetochore
            complex comprising Ska1 and Ska2
  JOURNAL   EMBO J 25 (23), 5504-5515 (2006)
   PUBMED   17093495
  REMARK    GeneRIF: These data suggest that the Ska1/Ska2 complex plays a
            critical role in the maintenance of the metaphase plate and/or
            spindle checkpoint silencing.
REFERENCE   10 (residues 1 to 255)
  AUTHORS   Sauer G, Korner R, Hanisch A, Ries A, Nigg EA and Sillje HH.
  TITLE     Proteome analysis of the human mitotic spindle
  JOURNAL   Mol Cell Proteomics 4 (1), 35-43 (2005)
   PUBMED   15561729
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BU659790.1, BX956145.1, BC015706.1, AC105227.6 and BC015606.2.
            
            Transcript Variant: This variant (2) uses a different splice site
            in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the
            same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.35554.1,
                                           SRR1163657.528964.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000285116.8/ ENSP00000285116.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..255
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     Protein         1..255
                     /product="spindle and kinetochore-associated protein 1"
                     /note="spindle and KT (kinetochore) associated 1"
                     /calculated_mol_wt=29353
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q96BD8.1)"
     Site            order(4..6,9)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:214021"
     Site            order(6,9..10,13,17,20..21,24,27..28,35,38..39,42,45..46,
                     48..49,52..53,55..56,59,62..63,66,70,73,77)
                     /site_type="other"
                     /note="SKA3 interface [polypeptide binding]"
                     /db_xref="CDD:214021"
     Site            order(12,16,19..20,23..24,26..27,30,42,46,49..50,53..54,
                     56..57,60,63,67,70..71,73..74,77)
                     /site_type="other"
                     /note="SKA2 interface [polypeptide binding]"
                     /db_xref="CDD:214021"
     Region          16..248
                     /region_name="SKA1"
                     /note="Spindle and kinetochore-associated protein 1;
                     pfam07160"
                     /db_xref="CDD:429324"
     Region          106..131
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BD8.1)"
     Region          132..255
                     /region_name="Microtubule binding.
                     /evidence=ECO:0000269|PubMed:23085020"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BD8.1)"
     CDS             1..255
                     /gene="SKA1"
                     /gene_synonym="C18orf24"
                     /coded_by="NM_145060.4:161..928"
                     /db_xref="CCDS:CCDS11946.1"
                     /db_xref="GeneID:220134"
                     /db_xref="HGNC:HGNC:28109"
                     /db_xref="MIM:616673"
ORIGIN      
        1 massdleqlc shvnekigni kktlslrncg qeptlktvln kigdeiivin ellnklelei
       61 qyqeqtnnsl kelcesleed ykdiehlken vpshlpqvtv tqscvkgsdl dpeepikvee
      121 pepvkkppke qrsikempfi tcdefngvps ymksrltynq indvikeink aviskykilh
      181 qpkksmnsvt rnlyhrfide etkdtkgryf iveadikeft tlkadkkfhv llnilrhcrr
      241 lsevrggglt ryvit
//
LOCUS       NP_001358960             653 aa            linear   PRI 10-APR-2023
DEFINITION  dihydrolipoyllysine-residue acetyltransferase component of pyruvate
            dehydrogenase complex, mitochondrial isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_001358960
VERSION     NP_001358960.1
DBSOURCE    REFSEQ: accession NM_001372031.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 653)
  AUTHORS   Yang Q, Zeng S and Liu W.
  TITLE     Roles of cuproptosis-related gene DLAT in various cancers: a
            bioinformatic analysis and preliminary verification on pro-survival
            autophagy
  JOURNAL   PeerJ 11, e15019 (2023)
   PUBMED   36949759
  REMARK    GeneRIF: Roles of cuproptosis-related gene DLAT in various cancers:
            a bioinformatic analysis and preliminary verification on
            pro-survival autophagy.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 653)
  AUTHORS   Fang Z, Wang W, Liu Y, Hua J, Liang C, Liu J, Zhang B, Shi S, Yu X,
            Meng Q and Xu J.
  TITLE     Cuproptosis-Related Gene DLAT as a Novel Biomarker Correlated with
            Prognosis, Chemoresistance, and Immune Infiltration in Pancreatic
            Adenocarcinoma: A Preliminary Study Based on Bioinformatics
            Analysis
  JOURNAL   Curr Oncol 30 (3), 2997-3019 (2023)
   PUBMED   36975441
  REMARK    GeneRIF: Cuproptosis-Related Gene DLAT as a Novel Biomarker
            Correlated with Prognosis, Chemoresistance, and Immune Infiltration
            in Pancreatic Adenocarcinoma: A Preliminary Study Based on
            Bioinformatics Analysis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 653)
  AUTHORS   Pinho SA, Costa CF, Deus CM, Pinho SLC, Miranda-Santos I, Afonso G,
            Bagshaw O, Stuart JA, Oliveira PJ and Cunha-Oliveira T.
  TITLE     Mitochondrial and metabolic remodelling in human skin fibroblasts
            in response to glucose availability
  JOURNAL   FEBS J 289 (17), 5198-5217 (2022)
   PUBMED   35213938
REFERENCE   4  (residues 1 to 653)
  AUTHORS   Faqihi F, Stoodley MA and McRobb LS.
  TITLE     Externalization of Mitochondrial PDCE2 on Irradiated Endothelium as
            a Target for Radiation-Guided Drug Delivery and Precision
            Thrombosis of Pathological Vasculature
  JOURNAL   Int J Mol Sci 23 (16), 8908 (2022)
   PUBMED   36012169
  REMARK    GeneRIF: Externalization of Mitochondrial PDCE2 on Irradiated
            Endothelium as a Target for Radiation-Guided Drug Delivery and
            Precision Thrombosis of Pathological Vasculature.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 653)
  AUTHORS   Kilanczyk E, Banales JM, Jurewicz E, Milkiewicz P and Milkiewicz M.
  TITLE     p-STAT3 is a PDC-E2 interacting partner in human cholangiocytes and
            hepatocytes with potential pathobiological implications
  JOURNAL   Sci Rep 11 (1), 21649 (2021)
   PUBMED   34737337
  REMARK    GeneRIF: p-STAT3 is a PDC-E2 interacting partner in human
            cholangiocytes and hepatocytes with potential pathobiological
            implications.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 653)
  AUTHORS   Ganetzky,R., McCormick,E.M. and Falk,M.J.
  TITLE     Primary Pyruvate Dehydrogenase Complex Deficiency Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   34138529
REFERENCE   7  (residues 1 to 653)
  AUTHORS   Moehario LH, Smooker PM, Devenish RJ, Mackay IR, Gershwin ME and
            Marzuki S.
  TITLE     Nucleotide sequence of a cDNA encoding the lipoate acetyl
            transferase (E2) of human heart pyruvate dehydrogenase complex
            differs from that of human placenta
  JOURNAL   Biochem Int 20 (2), 417-422 (1990)
   PUBMED   2317220
REFERENCE   8  (residues 1 to 653)
  AUTHORS   Thekkumkara TJ, Ho L, Wexler ID, Pons G, Liu TC and Patel MS.
  TITLE     Nucleotide sequence of a cDNA for the dihydrolipoamide
            acetyltransferase component of human pyruvate dehydrogenase complex
  JOURNAL   FEBS Lett 240 (1-2), 45-48 (1988)
   PUBMED   3191998
REFERENCE   9  (residues 1 to 653)
  AUTHORS   Coppel RL, McNeilage LJ, Surh CD, Van de Water J, Spithill TW,
            Whittingham S and Gershwin ME.
  TITLE     Primary structure of the human M2 mitochondrial autoantigen of
            primary biliary cirrhosis: dihydrolipoamide acetyltransferase
  JOURNAL   Proc Natl Acad Sci U S A 85 (19), 7317-7321 (1988)
   PUBMED   3174635
REFERENCE   10 (residues 1 to 653)
  AUTHORS   Thekkumkara,T.J., Jesse,B.W., Ho,L., Raefsky,C., Pepin,R.A.,
            Javed,A.A., Pons,G. and Patel,M.S.
  TITLE     Isolation of a cDNA clone for the dihydrolipoamide
            acetyltransferase component of the human liver pyruvate
            dehydrogenase complex
  JOURNAL   Biochem Biophys Res Commun 145 (2), 903-907 (1987)
   PUBMED   3036145
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000907.6.
            
            Summary: This gene encodes component E2 of the multi-enzyme
            pyruvate dehydrogenase complex (PDC). PDC resides in the inner
            mitochondrial membrane and catalyzes the conversion of pyruvate to
            acetyl coenzyme A. The protein product of this gene,
            dihydrolipoamide acetyltransferase, accepts acetyl groups formed by
            the oxidative decarboxylation of pyruvate and transfers them to
            coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for
            antimitochondrial antibodies. These autoantibodies are present in
            nearly 95% of patients with the autoimmune liver disease primary
            biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and
            destroy epithelial cells in the bile duct where this protein is
            abnormally distributed and overexpressed. PBC enventually leads to
            cirrhosis and liver failure. Mutations in this gene are also a
            cause of pyruvate dehydrogenase E2 deficiency which causes primary
            lactic acidosis in infancy and early childhood.[provided by RefSeq,
            Oct 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.247348.1,
                                           SRR18074967.1835224.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2147975
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..653
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.1"
     Protein         1..653
                     /product="dihydrolipoyllysine-residue acetyltransferase
                     component of pyruvate dehydrogenase complex, mitochondrial
                     isoform 1 precursor"
                     /EC_number="2.3.1.12"
                     /note="E2 component of pyruvate dehydrogenase complex;
                     dihydrolipoyllysine-residue acetyltransferase component of
                     pyruvate dehydrogenase complex, mitochondrial; 70 kDa
                     mitochondrial autoantigen of primary biliary cirrhosis; M2
                     antigen complex 70 kDa subunit; pyruvate dehydrogenase
                     complex component E2; dihydrolipoamide acetyltransferase
                     component of pyruvate dehydrogenase complex"
                     /calculated_mol_wt=60391
     transit_peptide 1..86
                     /note="Mitochondrion; propagated from UniProtKB/Swiss-Prot
                     (P10515.3)"
                     /calculated_mol_wt=9394
     Region          29..49
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P10515.3)"
     Region          96..>175
                     /region_name="PRK11892"
                     /note="pyruvate dehydrogenase subunit beta; Provisional"
                     /db_xref="CDD:237011"
     Site            100
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P10515.3)"
     Region          184..219
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P10515.3)"
     Region          221..653
                     /region_name="PDHac_trf_mito"
                     /note="pyruvate dehydrogenase complex dihydrolipoamide
                     acetyltransferase, long form; TIGR01349"
                     /db_xref="CDD:273567"
     Region          312..346
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P10515.3)"
     Site            466
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P10515.3)"
     CDS             1..653
                     /gene="DLAT"
                     /gene_synonym="DLTA; E2; PBC; PDC-E2; PDCE2"
                     /coded_by="NM_001372031.1:66..2027"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="GeneID:1737"
                     /db_xref="HGNC:HGNC:2896"
                     /db_xref="MIM:608770"
ORIGIN      
        1 mwrvcarraq nvapwaglea rwtalqevpg tprvtsrsgp aparrnsvtt gyggvralcg
       61 wtpssgatpr nrlllqllgs pgrryyslpp hqkvplpsls ptmqagtiar wekkegdkin
      121 egdliaevet dkatvgfesl eecymakilv aegtrdvpig aiicitvgkp edieafknyt
      181 ldssaaptpq aapaptpaat aspptpsaqa pgssypphmq vllpalsptm tmgtvqrwek
      241 kvgeklsegd llaeietdka tigfevqeeg ylakilvpeg trdvplgtpl ciivekeadi
      301 safadyrpte vtdlkpqvpp ptpppvaavp ptpqplaptp sapcpatpag pkgrvfvspl
      361 akklavekgi dltqvkgtgp dgritkkdid sfvpskvapa paavvpptgp gmapvptgvf
      421 tdipisnirr viaqrlmqsk qtiphyylsi dvnmgevllv rkelnkffls fqilegrski
      481 svndfiikas alaclkvpea nsswmdtvir qnhvvdvsva vstpaglitp ivfnahikgv
      541 etiandvvsl atkaregklq phefqggtft isnlgmfgik nfsaiinppq acilaigase
      601 dklvpadnek gfdvasmmsv tlscdhrvvd gavgaqwlae frkylekpit mll
//
LOCUS       NP_001264745             534 aa            linear   PRI 10-APR-2023
DEFINITION  YTH domain-containing family protein 3 isoform c [Homo sapiens].
ACCESSION   NP_001264745
VERSION     NP_001264745.1
DBSOURCE    REFSEQ: accession NM_001277816.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 534)
  AUTHORS   Du H, Zou NY, Zuo HL, Zhang XY and Zhu SC.
  TITLE     YTHDF3 mediates HNF1alpha regulation of cervical cancer
            radio-resistance by promoting RAD51D translation in an
            m6A-dependent manner
  JOURNAL   FEBS J 290 (7), 1920-1935 (2023)
   PUBMED   36380687
  REMARK    GeneRIF: YTHDF3 mediates HNF1alpha regulation of cervical cancer
            radio-resistance by promoting RAD51D translation in an
            m6A-dependent manner.
REFERENCE   2  (residues 1 to 534)
  AUTHORS   Zhao Y, Zhao H, Zhang D, Quan Q, Ge Y, Li L and Guo L.
  TITLE     YTHDF3 Facilitates eIF2AK2 and eIF3A Recruitment on mRNAs to
            Regulate Translational Processes in Oxaliplatin-Resistant
            Colorectal Cancer
  JOURNAL   ACS Chem Biol 17 (7), 1778-1788 (2022)
   PUBMED   35708211
  REMARK    GeneRIF: YTHDF3 Facilitates eIF2AK2 and eIF3A Recruitment on mRNAs
            to Regulate Translational Processes in Oxaliplatin-Resistant
            Colorectal Cancer.
REFERENCE   3  (residues 1 to 534)
  AUTHORS   Xiao K, Liu P, Yan P, Liu Y, Song L, Liu Y and Xie L.
  TITLE     N6-methyladenosine reader YTH N6-methyladenosine RNA binding
            protein 3 or insulin like growth factor 2 mRNA binding protein 2
            knockdown protects human bronchial epithelial cells from
            hypoxia/reoxygenation injury by inactivating p38 MAPK, AKT, ERK1/2,
            and NF-kappaB pathways
  JOURNAL   Bioengineered 13 (5), 11973-11986 (2022)
   PUBMED   34709120
  REMARK    GeneRIF: N6-methyladenosine reader YTH N6-methyladenosine RNA
            binding protein 3 or insulin like growth factor 2 mRNA binding
            protein 2 knockdown protects human bronchial epithelial cells from
            hypoxia/reoxygenation injury by inactivating p38 MAPK, AKT, ERK1/2,
            and NF-kappaB pathways.
REFERENCE   4  (residues 1 to 534)
  AUTHORS   Terkelsen T, Brasch-Andersen C, Illum N, Busa T, Missirian C,
            Chandler K, Holden ST, Jensen UB and Fagerberg CR.
  TITLE     Mono-allelic loss of YTHDF3 and neurodevelopmental disorder:
            clinical features of four individuals with 8q12.3 deletions
  JOURNAL   Clin Genet 101 (2), 208-213 (2022)
   PUBMED   34708403
  REMARK    GeneRIF: Mono-allelic loss of YTHDF3 and neurodevelopmental
            disorder: clinical features of four individuals with 8q12.3
            deletions.
REFERENCE   5  (residues 1 to 534)
  AUTHORS   Hu K, Yao L, Yan Y, Zhou L and Li J.
  TITLE     Comprehensive Analysis of YTH Domain Family in Lung Adenocarcinoma:
            Expression Profile, Association with Prognostic Value, and Immune
            Infiltration
  JOURNAL   Dis Markers 2021, 2789481 (2021)
   PUBMED   34497675
  REMARK    GeneRIF: Comprehensive Analysis of YTH Domain Family in Lung
            Adenocarcinoma: Expression Profile, Association with Prognostic
            Value, and Immune Infiltration.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 534)
  AUTHORS   Varade J, Comabella M, Ortiz MA, Arroyo R, Fernandez O, Pinto-Medel
            MJ, Fedetz M, Izquierdo G, Lucas M, Gomez CL, Rabasa AC, Alcina A,
            Matesanz F, Alloza I, Antiguedad A, Garcia-Barcina M, Otaegui D,
            Olascoaga J, Saiz A, Blanco Y, Montalban X, Vandenbroeck K and
            Urcelay E.
  TITLE     Replication study of 10 genes showing evidence for association with
            multiple sclerosis: validation of TMEM39A, IL12B and CBLB
            [correction of CLBL] genes
  JOURNAL   Mult Scler 18 (7), 959-965 (2012)
   PUBMED   22194214
REFERENCE   7  (residues 1 to 534)
  AUTHORS   Dominissini D, Moshitch-Moshkovitz S, Schwartz S, Salmon-Divon M,
            Ungar L, Osenberg S, Cesarkas K, Jacob-Hirsch J, Amariglio N,
            Kupiec M, Sorek R and Rechavi G.
  TITLE     Topology of the human and mouse m6A RNA methylomes revealed by
            m6A-seq
  JOURNAL   Nature 485 (7397), 201-206 (2012)
   PUBMED   22575960
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 534)
  AUTHORS   Jager S, Cimermancic P, Gulbahce N, Johnson JR, McGovern KE, Clarke
            SC, Shales M, Mercenne G, Pache L, Li K, Hernandez H, Jang GM, Roth
            SL, Akiva E, Marlett J, Stephens M, D'Orso I, Fernandes J, Fahey M,
            Mahon C, O'Donoghue AJ, Todorovic A, Morris JH, Maltby DA, Alber T,
            Cagney G, Bushman FD, Young JA, Chanda SK, Sundquist WI, Kortemme
            T, Hernandez RD, Craik CS, Burlingame A, Sali A, Frankel AD and
            Krogan NJ.
  TITLE     Global landscape of HIV-human protein complexes
  JOURNAL   Nature 481 (7381), 365-370 (2011)
   PUBMED   22190034
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 534)
  AUTHORS   Sundstrom G, Dreborg S and Larhammar D.
  TITLE     Concomitant duplications of opioid peptide and receptor genes
            before the origin of jawed vertebrates
  JOURNAL   PLoS One 5 (5), e10512 (2010)
   PUBMED   20463905
  REMARK    GeneRIF: Includes a multi-species analysis of YTHDF family members.
            Publication Status: Online-Only
REFERENCE   10 (residues 1 to 534)
  AUTHORS   Stoilov P, Rafalska I and Stamm S.
  TITLE     YTH: a new domain in nuclear proteins
  JOURNAL   Trends Biochem Sci 27 (10), 495-497 (2002)
   PUBMED   12368078
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP223018.1, AW673093.1,
            AK127574.1 and AL832335.1.
            
            Summary: This gene encodes a member of the YTH (YT521-B homology)
            domain protein family. The YTH domain is common in eukaryotes, is
            often found in the middle of the protein sequence, and may function
            in binding to RNA. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Apr 2013].
            
            Transcript Variant: This variant (5) differs in its 5' UTR and uses
            a downstream in-frame start codon, compared to variant 1. The
            encoded isoform (c) has a shorter N-terminus, compared to isoform
            a. Variants 4, 5, 6, and 7 encode the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.2681020.1,
                                           SRR14038191.4066871.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..534
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.3"
     Protein         1..534
                     /product="YTH domain-containing family protein 3 isoform
                     c"
                     /note="YTH domain family protein 3; YTH
                     N(6)-methyladenosine RNA binding protein 3; YTH
                     domain-containing family protein 3; YTH domain family,
                     member 3; YTH N6-methyladenosine RNA binding protein 3"
                     /calculated_mol_wt=58180
     Region          366..499
                     /region_name="YTH"
                     /note="YT521-B-like domain; pfam04146"
                     /db_xref="CDD:427744"
     CDS             1..534
                     /gene="YTHDF3"
                     /gene_synonym="DF3"
                     /coded_by="NM_001277816.2:325..1929"
                     /note="isoform c is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS75749.1"
                     /db_xref="GeneID:253943"
                     /db_xref="HGNC:HGNC:26465"
                     /db_xref="MIM:618669"
ORIGIN      
        1 msdpympsyy apsigfpysl geaawstagd qpmpylttyg qmsngehhyi pdgvfsqpga
       61 lgntppflgq hgfnffpgna dfstwgtsgs qgqstqssay sssygyppss lgraitdgqa
      121 gfgndtlskv pgissieqgm tglkiggdlt aavtktvgta lsssgmtsia tnsvppvssa
      181 apkptswaai arkpakpqpk lkpkgnvgig gsavppppik hnmnigtwde kgsvvkappt
      241 qpvlppqtii qqpqpliqpp plvqsqlpqq qpqppqpqqq qgpqpqaqph qvqpqqqqlq
      301 nrwvaprnrg agfnqnngag senfglgvvp vsaspssvev hpvleklkai nnynpkdfdw
      361 nlkngrvfii ksyseddihr sikysiwcst ehgnkrldaa yrslngkgpl yllfsvngsg
      421 hfcgvaemks vvdynayagv wsqdkwkgkf evkwifvkdv pnnqlrhirl enndnkpvtn
      481 srdtqevple kakqvlkiia tfkhttsifd dfahyekrqe eeeamrrern rnkq
//
LOCUS       NP_001374583             939 aa            linear   PRI 17-APR-2023
DEFINITION  focal adhesion kinase 1 isoform 56 [Homo sapiens].
ACCESSION   NP_001374583
VERSION     NP_001374583.1
DBSOURCE    REFSEQ: accession NM_001387654.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 939)
  AUTHORS   Zhang J, Li W, Wang W, Chen Q, Xu Z, Deng M, Zhou L and He G.
  TITLE     Dual roles of FAK in tumor angiogenesis: A review focused on
            pericyte FAK
  JOURNAL   Eur J Pharmacol 947, 175694 (2023)
   PUBMED   36967077
  REMARK    GeneRIF: Dual roles of FAK in tumor angiogenesis: A review focused
            on pericyte FAK.
            Review article
REFERENCE   2  (residues 1 to 939)
  AUTHORS   Akhade VS, Liu T, Docking TR, Jiang J, Gopal A and Karsan A.
  TITLE     Control of focal adhesion kinase activation by RUNX1-regulated
            miRNAs in high-risk AML
  JOURNAL   Leukemia 37 (4), 776-787 (2023)
   PUBMED   36788336
  REMARK    GeneRIF: Control of focal adhesion kinase activation by
            RUNX1-regulated miRNAs in high-risk AML.
REFERENCE   3  (residues 1 to 939)
  AUTHORS   Zhang Y, He B, Zhang D, Zhang Y, Chen C, Zhang W, Yang S, Yao M,
            Cui G, Gu J, Wang T, Lin Z, Fan Y, Xiong Z and Hao Y.
  TITLE     FAK-mediated phosphorylation at Y464 regulates p85beta nuclear
            translocation to promote tumorigenesis of ccRCC by repressing RB1
            expression
  JOURNAL   Cell Rep 42 (3), 112188 (2023)
   PUBMED   36857183
  REMARK    GeneRIF: FAK-mediated phosphorylation at Y464 regulates p85beta
            nuclear translocation to promote tumorigenesis of ccRCC by
            repressing RB1 expression.
REFERENCE   4  (residues 1 to 939)
  AUTHORS   Zhang J, Gelman IH, Qu J and Hochwald SN.
  TITLE     Phosphohistidine signaling promotes FAK-RB1 interaction and growth
            factor-independent proliferation of esophageal squamous cell
            carcinoma
  JOURNAL   Oncogene 42 (6), 449-460 (2023)
   PUBMED   36513743
  REMARK    GeneRIF: Phosphohistidine signaling promotes FAK-RB1 interaction
            and growth factor-independent proliferation of esophageal squamous
            cell carcinoma.
REFERENCE   5  (residues 1 to 939)
  AUTHORS   Rizza S, Di Leo L, Pecorari C, Giglio P, Faienza F, Montagna C,
            Maiani E, Puglia M, Bosisio FM, Petersen TS, Lin L, Rissler V,
            Viloria JS, Luo Y, Papaleo E, De Zio D, Blagoev B and Filomeni G.
  TITLE     GSNOR deficiency promotes tumor growth via FAK1 S-nitrosylation
  JOURNAL   Cell Rep 42 (1), 111997 (2023)
   PUBMED   36656716
  REMARK    GeneRIF: GSNOR deficiency promotes tumor growth via FAK1
            S-nitrosylation.
REFERENCE   6  (residues 1 to 939)
  AUTHORS   Polte TR and Hanks SK.
  TITLE     Interaction between focal adhesion kinase and Crk-associated
            tyrosine kinase substrate p130Cas
  JOURNAL   Proc Natl Acad Sci U S A 92 (23), 10678-10682 (1995)
   PUBMED   7479864
REFERENCE   7  (residues 1 to 939)
  AUTHORS   Guinebault C, Payrastre B, Racaud-Sultan C, Mazarguil H, Breton M,
            Mauco G, Plantavid M and Chap H.
  TITLE     Integrin-dependent translocation of phosphoinositide 3-kinase to
            the cytoskeleton of thrombin-activated platelets involves specific
            interactions of p85 alpha with actin filaments and focal adhesion
            kinase
  JOURNAL   J Cell Biol 129 (3), 831-842 (1995)
   PUBMED   7537275
REFERENCE   8  (residues 1 to 939)
  AUTHORS   Calalb MB, Polte TR and Hanks SK.
  TITLE     Tyrosine phosphorylation of focal adhesion kinase at sites in the
            catalytic domain regulates kinase activity: a role for Src family
            kinases
  JOURNAL   Mol Cell Biol 15 (2), 954-963 (1995)
   PUBMED   7529876
REFERENCE   9  (residues 1 to 939)
  AUTHORS   Bergman M, Joukov V, Virtanen I and Alitalo K.
  TITLE     Overexpressed Csk tyrosine kinase is localized in focal adhesions,
            causes reorganization of alpha v beta 5 integrin, and interferes
            with HeLa cell spreading
  JOURNAL   Mol Cell Biol 15 (2), 711-722 (1995)
   PUBMED   7529872
REFERENCE   10 (residues 1 to 939)
  AUTHORS   Schaller MD, Hildebrand JD, Shannon JD, Fox JW, Vines RR and
            Parsons JT.
  TITLE     Autophosphorylation of the focal adhesion kinase, pp125FAK, directs
            SH2-dependent binding of pp60src
  JOURNAL   Mol Cell Biol 14 (3), 1680-1688 (1994)
   PUBMED   7509446
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC100860.2, AC105009.13,
            AC105235.7 and AC067931.16.
            
            Summary: This gene encodes a cytoplasmic protein tyrosine kinase
            which is found concentrated in the focal adhesions that form
            between cells growing in the presence of extracellular matrix
            constituents. The encoded protein is a member of the FAK subfamily
            of protein tyrosine kinases but lacks significant sequence
            similarity to kinases from other subfamilies. Activation of this
            gene may be an important early step in cell growth and
            intracellular signal transduction pathways triggered in response to
            certain neural peptides or to cell interactions with the
            extracellular matrix. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jun 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.2725920.1,
                                           SRR18074967.2047932.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..939
                     /product="focal adhesion kinase 1 isoform 56"
                     /EC_number="2.7.10.2"
                     /note="focal adhesion kinase 1; FAK-related non-kinase
                     polypeptide; focal adhesion kinase-related nonkinase;
                     protein phosphatase 1 regulatory subunit 71; PTK2 protein
                     tyrosine kinase 2"
                     /calculated_mol_wt=106223
     Region          <9..145
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          141..251
                     /region_name="FERM_C_FAK1"
                     /note="FERM domain C-lobe of Focal Adhesion Kinase 1 and
                     2; cd13190"
                     /db_xref="CDD:270011"
     Site            order(149,169,171,178)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270011"
     Site            order(183,188..191,228,232,235..236)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Site            228..239
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Region          302..571
                     /region_name="PTKc_FAK"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Focal Adhesion Kinase; cd05056"
                     /db_xref="CDD:133187"
     Site            order(315..319,323,339,341,358,371,386..389,392..393,433,
                     437..438,440,451,468..472,481,515)
                     /site_type="active"
                     /db_xref="CDD:133187"
     Site            order(315..319,323,339,341,358,371,386..389,392..393,
                     437..438,440,451)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133187"
     Site            order(433,437,468..472,481,515)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133187"
     Site            450..474
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133187"
     Site            order(481..485,519,523,548)
                     /site_type="other"
                     /note="FERM domain interface [polypeptide binding]"
                     /db_xref="CDD:133187"
     Region          803..932
                     /region_name="Focal_AT"
                     /note="Focal adhesion targeting region; pfam03623"
                     /db_xref="CDD:427406"
     CDS             1..939
                     /gene="PTK2"
                     /gene_synonym="FADK; FADK 1; FAK; FAK1; FRNK; p125FAK;
                     pp125FAK; PPP1R71"
                     /coded_by="NM_001387654.1:419..3238"
                     /note="isoform 56 is encoded by transcript variant 128"
                     /db_xref="GeneID:5747"
                     /db_xref="HGNC:HGNC:9611"
                     /db_xref="MIM:600758"
ORIGIN      
        1 memllmsgye lrirylpkgf lnqftedkpt lnffyqqvks dymleiadqv dqeialklgc
       61 leirrsywem rgnalekksn yevlekdvgl krffpkslld svkaktlrkl iqqtfrqfan
      121 lnreesilkf feilspvyrf dkecfkcalg sswiisvela igpeegisyl tdkgcnpthl
      181 adftqvqtiq ysnsedkdrk gmlqlkiaga pepltvtaps ltiaenmadl idgycrlvng
      241 tsqsfiirpq kegeralpsi pklansekqg mrthavsvse tddyaeiide edtytmpstr
      301 dyeiqrerie lgrcigegqf gdvhqgiyms penpalavai ktcknctsds vrekflqeal
      361 tmrqfdhphi vkligviten pvwiimelct lgelrsflqv rkysldlasl ilyayqlsta
      421 layleskrfv hrdiaarnvl vssndcvklg dfglsrymed styykaskgk lpikwmapes
      481 infrrftsas dvwmfgvcmw eilmhgvkpf qgvknndvig riengerlpm ppncpptlys
      541 lmtkcwaydp srrprftelk aqlstileee kaqqeermrm esrrqatvsw dsggsdeapp
      601 kpsrpgypsp rssegfypsp qhmvqtnhyq vsgypgshgi tamagsiypg qaslldqtds
      661 wnhrpqeiam wqpnvedstv ldlrgigqvl pthlmeerli rqqqemeedq rwlekeerfl
      721 kpdvrlsrgs idredgslqg pignqhiyqp vgkpdpaapp kkpprpgapg hlgslaslss
      781 padsynegvk lqpqeisppp tanldrsndk vyenvtglvk aviemsskiq pappeeyvpm
      841 vkevglalrt llatvdetip llpasthrei emaqkllnsd lgelinkmkl aqqyvmtslq
      901 qeykkqmlta ahalavdakn lldvidqarl kmlgqtrph
//
LOCUS       NP_002017               2355 aa            linear   PRI 17-APR-2023
DEFINITION  fibronectin isoform 3 preproprotein [Homo sapiens].
ACCESSION   NP_002017
VERSION     NP_002017.2
DBSOURCE    REFSEQ: accession NM_002026.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2355)
  AUTHORS   Ma J, Chen S, Su M and Wang W.
  TITLE     High FN1 expression is associated with poor survival in esophageal
            squamous cell carcinoma
  JOURNAL   Medicine (Baltimore) 102 (14), e33388 (2023)
   PUBMED   37026938
  REMARK    GeneRIF: High FN1 expression is associated with poor survival in
            esophageal squamous cell carcinoma.
REFERENCE   2  (residues 1 to 2355)
  AUTHORS   Sun S, Zou Y, Xu N, Wang K, Rong S, Lv J, Hu B, Mai Y, Zhu D and
            Ding L.
  TITLE     Long non-coding RNA ATB expedites non-small cell lung cancer
            progression by the miR-200b/fibronectin 1 axis
  JOURNAL   J Clin Lab Anal 37 (4), e24822 (2023)
   PUBMED   36806318
  REMARK    GeneRIF: Long non-coding RNA ATB expedites non-small cell lung
            cancer progression by the miR-200b/fibronectin 1 axis.
REFERENCE   3  (residues 1 to 2355)
  AUTHORS   Ke R, Kucukal E, Gurkan UA and Li B.
  TITLE     Characterization of fibronectin properties by integrated
            micro-fluidic experiments and fluid-structure interaction
            simulations
  JOURNAL   J Biomech 150, 111505 (2023)
   PUBMED   36867952
  REMARK    GeneRIF: Characterization of fibronectin properties by integrated
            micro-fluidic experiments and fluid-structure interaction
            simulations.
REFERENCE   4  (residues 1 to 2355)
  AUTHORS   Hall RC, Vaidya AM, Schiemann WP, Pan Q and Lu ZR.
  TITLE     RNA-Seq Analysis of Extradomain A and Extradomain B Fibronectin as
            Extracellular Matrix Markers for Cancer
  JOURNAL   Cells 12 (5), 685 (2023)
   PUBMED   36899821
  REMARK    GeneRIF: RNA-Seq Analysis of Extradomain A and Extradomain B
            Fibronectin as Extracellular Matrix Markers for Cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 2355)
  AUTHORS   England,J., McFarquhar,A. and Campeau,P.M.
  TITLE     Spondylometaphyseal Dysplasia, Corner Fracture Type
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   32200603
REFERENCE   6  (residues 1 to 2355)
  AUTHORS   Ruegg C, Postigo AA, Sikorski EE, Butcher EC, Pytela R and Erle DJ.
  TITLE     Role of integrin alpha 4 beta 7/alpha 4 beta P in lymphocyte
            adherence to fibronectin and VCAM-1 and in homotypic cell
            clustering
  JOURNAL   J Cell Biol 117 (1), 179-189 (1992)
   PUBMED   1372909
REFERENCE   7  (residues 1 to 2355)
  AUTHORS   Baron M, Main AL, Driscoll PC, Mardon HJ, Boyd J and Campbell ID.
  TITLE     1H NMR assignment and secondary structure of the cell adhesion type
            III module of fibronectin
  JOURNAL   Biochemistry 31 (7), 2068-2073 (1992)
   PUBMED   1311202
REFERENCE   8  (residues 1 to 2355)
  AUTHORS   Gutman,A., Yamada,K.M. and Kornblihtt,A.
  TITLE     Human fibronectin is synthesized as a pre-propolypeptide
  JOURNAL   FEBS Lett 207 (1), 145-148 (1986)
   PUBMED   3770189
REFERENCE   9  (residues 1 to 2355)
  AUTHORS   Kornblihtt,A.R., Vibe-Pedersen,K. and Baralle,F.E.
  TITLE     Isolation and characterization of cDNA clones for human and bovine
            fibronectins
  JOURNAL   Proc Natl Acad Sci U S A 80 (11), 3218-3222 (1983)
   PUBMED   6304699
REFERENCE   10 (residues 1 to 2355)
  AUTHORS   Zucker,M.B., Mosesson,M.W., Broekman,M.J. and Kaplan,K.L.
  TITLE     Release of platelet fibronectin (cold-insoluble globulin) from
            alpha granules induced by thrombin or collagen; lack of requirement
            for plasma fibronectin in ADP-induced platelet aggregation
  JOURNAL   Blood 54 (1), 8-12 (1979)
   PUBMED   444675
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012462.5 and AC073284.5.
            On Apr 15, 2020 this sequence version replaced NP_002017.1.
            
            Summary: This gene encodes fibronectin, a glycoprotein present in a
            soluble dimeric form in plasma, and in a dimeric or multimeric form
            at the cell surface and in extracellular matrix. The encoded
            preproprotein is proteolytically processed to generate the mature
            protein. Fibronectin is involved in cell adhesion and migration
            processes including embryogenesis, wound healing, blood
            coagulation, host defense, and metastasis. The gene has three
            regions subject to alternative splicing, with the potential to
            produce 20 different transcript variants, at least one of which
            encodes an isoform that undergoes proteolytic processing. The
            full-length nature of some variants has not been determined.
            [provided by RefSeq, Jan 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX640731.1, BX538018.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2355
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     Protein         1..2355
                     /product="fibronectin isoform 3 preproprotein"
                     /note="cold-insoluble globulin; migration-stimulating
                     factor; lnc-ABCA12-8; epididymis secretory sperm binding
                     protein"
                     /calculated_mol_wt=256742
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2493
     mat_peptide     32..2355
                     /product="fibronectin isoform 3"
                     /experiment="EXISTENCE:protein separation followed by
                     direct sequencing evidence [ECO:0000158][PMID:6630202]"
                     /calculated_mol_wt=256155
     Region          52..89
                     /region_name="FN1"
                     /note="Fibronectin type 1 domain, approximately 40 residue
                     long with two conserved disulfide bridges. FN1 is one of
                     three types of internal repeats which combine to form
                     larger domains within fibronectin. Fibronectin, a plasma
                     protein that binds cell surfaces...; cd00061"
                     /db_xref="CDD:238018"
     Region          97..140
                     /region_name="FN1"
                     /note="Fibronectin type 1 domain; smart00058"
                     /db_xref="CDD:214494"
     Region          141..184
                     /region_name="FN1"
                     /note="Fibronectin type 1 domain; smart00058"
                     /db_xref="CDD:214494"
     Region          186..230
                     /region_name="FN1"
                     /note="Fibronectin type 1 domain; smart00058"
                     /db_xref="CDD:214494"
     Region          231..270
                     /region_name="fn1"
                     /note="Fibronectin type I domain; pfam00039"
                     /db_xref="CDD:425437"
     Region          307..345
                     /region_name="FN1"
                     /note="Fibronectin type 1 domain, approximately 40 residue
                     long with two conserved disulfide bridges. FN1 is one of
                     three types of internal repeats which combine to form
                     larger domains within fibronectin. Fibronectin, a plasma
                     protein that binds cell surfaces...; cd00061"
                     /db_xref="CDD:238018"
     Region          353..401
                     /region_name="FN2"
                     /note="Fibronectin type 2 domain; smart00059"
                     /db_xref="CDD:128373"
     Site            order(364,366,371,385,392,398,400)
                     /site_type="active"
                     /note="putative gelatin-binding site [active]"
                     /db_xref="CDD:238019"
     Region          413..461
                     /region_name="FN2"
                     /note="Fibronectin type 2 domain; smart00059"
                     /db_xref="CDD:128373"
     Site            order(424,426,431,445,452,458,460)
                     /site_type="active"
                     /note="putative gelatin-binding site [active]"
                     /db_xref="CDD:238019"
     Region          470..508
                     /region_name="FN1"
                     /note="Fibronectin type 1 domain; smart00058"
                     /db_xref="CDD:214494"
     Region          518..560
                     /region_name="FN1"
                     /note="Fibronectin type 1 domain; smart00058"
                     /db_xref="CDD:214494"
     Region          561..604
                     /region_name="FN1"
                     /note="Fibronectin type 1 domain; smart00058"
                     /db_xref="CDD:214494"
     Region          619..688
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          727..798
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(798..799,801..802)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            order(811,872,887)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          812..883
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(888..889,891..892)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          908..988
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(985..986,988..989)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          998..1076
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(1074..1075,1077..1078)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1092..1159
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          1175..1258
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(1255..1256,1258..1259)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1268..1349
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          1359..1438
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          1449..1530
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(1526..1527,1529..1530)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1543..1623
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(1620..1621,1623..1624)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1633..1713
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Region          1723..1803
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(1800..1801,1803..1804)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1815..1894
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(1891..1892,1894..1895)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1904..1984
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Region          2075..2147
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          2175..2219
                     /region_name="FN1"
                     /note="Fibronectin type 1 domain; smart00058"
                     /db_xref="CDD:214494"
     Region          2220..2261
                     /region_name="FN1"
                     /note="Fibronectin type 1 domain; smart00058"
                     /db_xref="CDD:214494"
     Region          2263..2302
                     /region_name="FN1"
                     /note="Fibronectin type 1 domain, approximately 40 residue
                     long with two conserved disulfide bridges. FN1 is one of
                     three types of internal repeats which combine to form
                     larger domains within fibronectin. Fibronectin, a plasma
                     protein that binds cell surfaces...; cd00061"
                     /db_xref="CDD:238018"
     CDS             1..2355
                     /gene="FN1"
                     /gene_synonym="CIG; ED-B; FINC; FN; FNZ; GFND; GFND2;
                     LETS; MSF; SMDCF"
                     /coded_by="NM_002026.4:267..7334"
                     /note="isoform 3 preproprotein is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS2399.1"
                     /db_xref="GeneID:2335"
                     /db_xref="HGNC:HGNC:3778"
                     /db_xref="MIM:135600"
ORIGIN      
        1 mlrgpgpgll llavqclgta vpstgasksk rqaqqmvqpq spvavsqskp gcydngkhyq
       61 inqqwertyl gnalvctcyg gsrgfncesk peaeetcfdk ytgntyrvgd tyerpkdsmi
      121 wdctcigagr grisctianr cheggqsyki gdtwrrphet ggymlecvcl gngkgewtck
      181 piaekcfdha agtsyvvget wekpyqgwmm vdctclgegs gritctsrnr cndqdtrtsy
      241 rigdtwskkd nrgnllqcic tgngrgewkc erhtsvqtts sgsgpftdvr aavyqpqphp
      301 qpppyghcvt dsgvvysvgm qwlktqgnkq mlctclgngv scqetavtqt yggnsngepc
      361 vlpftyngrt fyscttegrq dghlwcstts nyeqdqkysf ctdhtvlvqt rggnsngalc
      421 hfpflynnhn ytdctsegrr dnmkwcgttq nydadqkfgf cpmaaheeic ttnegvmyri
      481 gdqwdkqhdm ghmmrctcvg ngrgewtcia ysqlrdqciv dditynvndt fhkrheeghm
      541 lnctcfgqgr grwkcdpvdq cqdsetgtfy qigdswekyv hgvryqcycy grgigewhcq
      601 plqtypsssg pvevfitetp sqpnshpiqw napqpshisk yilrwrpkns vgrwkeatip
      661 ghlnsytikg lkpgvvyegq lisiqqyghq evtrfdfttt ststpvtsnt vtgettpfsp
      721 lvatsesvte itassfvvsw vsasdtvsgf rveyelseeg depqyldlps tatsvnipdl
      781 lpgrkyivnv yqisedgeqs lilstsqtta pdappdttvd qvddtsivvr wsrpqapitg
      841 yrivyspsve gsstelnlpe tansvtlsdl qpgvqyniti yaveenqest pvviqqettg
      901 tprsdtvpsp rdlqfvevtd vkvtimwtpp esavtgyrvd vipvnlpgeh gqrlpisrnt
      961 faevtglspg vtyyfkvfav shgreskplt aqqttkldap tnlqfvnetd stvlvrwtpp
     1021 raqitgyrlt vgltrrgqpr qynvgpsvsk yplrnlqpas eytvslvaik gnqespkatg
     1081 vfttlqpgss ippyntevte ttivitwtpa prigfklgvr psqggeapre vtsdsgsivv
     1141 sgltpgveyv ytiqvlrdgq erdapivnkv vtplspptnl hleanpdtgv ltvswerstt
     1201 pditgyritt tptngqqgns leevvhadqs sctfdnlspg leynvsvytv kddkesvpis
     1261 dtiipavppp tdlrftnigp dtmrvtwapp psidltnflv ryspvkneed vaelsispsd
     1321 navvltnllp gteyvvsvss vyeqhestpl rgrqktglds ptgidfsdit ansftvhwia
     1381 pratitgyri rhhpehfsgr predrvphsr nsitltnltp gteyvvsiva lngreespll
     1441 igqqstvsdv prdlevvaat ptslliswda pavtvryyri tygetggnsp vqeftvpgsk
     1501 statisglkp gvdytitvya vtgrgdspas skpisinyrt eidkpsqmqv tdvqdnsisv
     1561 kwlpssspvt gyrvtttpkn gpgptktkta gpdqtemtie glqptveyvv svyaqnpsge
     1621 sqplvqtavt nidrpkglaf tdvdvdsiki awespqgqvs ryrvtysspe dgihelfpap
     1681 dgeedtaelq glrpgseytv svvalhddme sqpligtqst aipaptdlkf tqvtptslsa
     1741 qwtppnvqlt gyrvrvtpke ktgpmkeinl apdsssvvvs glmvatkyev svyalkdtlt
     1801 srpaqgvvtt lenvspprra rvtdatetti tiswrtktet itgfqvdavp angqtpiqrt
     1861 ikpdvrsyti tglqpgtdyk iylytlndna rsspvvidas taidapsnlr flattpnsll
     1921 vswqpprari tgyiikyekp gspprevvpr prpgvteati tglepgteyt iyvialknnq
     1981 ksepligrkk tdelpqlvtl phpnlhgpei ldvpstvqkt pfvthpgydt gngiqlpgts
     2041 gqqpsvgqqm ifeehgfrrt tppttatpir hrprpyppnv gqealsqtti swapfqdtse
     2101 yiischpvgt deeplqfrvp gtstsatltg ltrgatynvi vealkdqqrh kvreevvtvg
     2161 nsvneglnqp tddscfdpyt vshyavgdew ermsesgfkl lcqclgfgsg hfrcdssrwc
     2221 hdngvnykig ekwdrqgeng qmmsctclgn gkgefkcdph eatcyddgkt yhvgeqwqke
     2281 ylgaicsctc fggqrgwrcd ncrrpggeps pegttgqsyn qysqryhqrt ntnvncpiec
     2341 fmpldvqadr edsre
//
LOCUS       NP_001362608             497 aa            linear   PRI 17-APR-2023
DEFINITION  abl interactor 2 isoform s [Homo sapiens].
ACCESSION   NP_001362608 XP_006712240
VERSION     NP_001362608.1
DBSOURCE    REFSEQ: accession NM_001375679.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 497)
  AUTHORS   Jensen CC, Clements AN, Liou H, Ball LE, Bethard JR, Langlais PR,
            Toth RK, Chauhan SS, Casillas AL, Daulat SR, Kraft AS, Cress AE,
            Miranti CK, Mouneimne G, Rogers GC and Warfel NA.
  TITLE     PIM1 phosphorylates ABI2 to enhance actin dynamics and promote
            tumor invasion
  JOURNAL   J Cell Biol 222 (6) (2023)
   PUBMED   37042842
  REMARK    GeneRIF: PIM1 phosphorylates ABI2 to enhance actin dynamics and
            promote tumor invasion.
REFERENCE   2  (residues 1 to 497)
  AUTHORS   Ergun S, Gunes S, Buyukalpelli R and Aydin O.
  TITLE     Association of Abl interactor 2, ABI2, with platelet/lymphocyte
            ratio in patients with renal cell carcinoma: A pilot study
  JOURNAL   Int J Exp Pathol 101 (3-4), 87-95 (2020)
   PUBMED   32496656
  REMARK    GeneRIF: Association of Abl interactor 2, ABI2, with
            platelet/lymphocyte ratio in patients with renal cell carcinoma: A
            pilot study.
REFERENCE   3  (residues 1 to 497)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 497)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (residues 1 to 497)
  AUTHORS   Lim IK, Choi JA, Kim EY, Kim BN, Jang S, Ryu MS and Shim SH.
  TITLE     TIS21/BTG2 inhibits doxorubicin-induced stress fiber-vimentin
            networks via Nox4-ROS-ABI2-DRF-linked signal cascade
  JOURNAL   Cell Signal 30, 179-190 (2017)
   PUBMED   27932314
  REMARK    GeneRIF: TIS21 attenuated Doxorubicin-induced cancer cell
            senescence by inhibiting linear actin nucleation via
            Nox4-ROS-ABI2-DRF signal cascade
REFERENCE   6  (residues 1 to 497)
  AUTHORS   Machado RD, Pauciulo MW, Fretwell N, Veal C, Thomson JR, Vilarino
            Guell C, Aldred M, Brannon CA, Trembath RC and Nichols WC.
  TITLE     A physical and transcript map based upon refinement of the critical
            interval for PPH1, a gene for familial primary pulmonary
            hypertension. The International PPH Consortium
  JOURNAL   Genomics 68 (2), 220-228 (2000)
   PUBMED   10964520
REFERENCE   7  (residues 1 to 497)
  AUTHORS   Courtney KD, Grove M, Vandongen H, Vandongen A, LaMantia AS and
            Pendergast AM.
  TITLE     Localization and phosphorylation of Abl-interactor proteins, Abi-1
            and Abi-2, in the developing nervous system
  JOURNAL   Mol Cell Neurosci 16 (3), 244-257 (2000)
   PUBMED   10995551
REFERENCE   8  (residues 1 to 497)
  AUTHORS   Juang JL and Hoffmann FM.
  TITLE     Drosophila abelson interacting protein (dAbi) is a positive
            regulator of abelson tyrosine kinase activity
  JOURNAL   Oncogene 18 (37), 5138-5147 (1999)
   PUBMED   10498863
REFERENCE   9  (residues 1 to 497)
  AUTHORS   Wang B, Mysliwiec T, Krainc D, Jensen RA, Sonoda G, Testa JR,
            Golemis EA and Kruh GD.
  TITLE     Identification of ArgBP1, an Arg protein tyrosine kinase binding
            protein that is the human homologue of a CNS-specific Xenopus gene
  JOURNAL   Oncogene 12 (9), 1921-1929 (1996)
   PUBMED   8649853
REFERENCE   10 (residues 1 to 497)
  AUTHORS   Dai Z and Pendergast AM.
  TITLE     Abi-2, a novel SH3-containing protein interacts with the c-Abl
            tyrosine kinase and modulates c-Abl transforming activity
  JOURNAL   Genes Dev 9 (21), 2569-2582 (1995)
   PUBMED   7590236
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC080075.7 and AC018891.9.
            On Oct 31, 2019 this sequence version replaced XP_006712240.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..497
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.2"
     Protein         1..497
                     /product="abl interactor 2 isoform s"
                     /note="abl-interacting protein 1 (SH3-containing protein);
                     abl binding protein 3; arg protein tyrosine kinase-binding
                     protein; abl-interactor protein 2b; abelson interactor 2;
                     arg-binding protein 1"
                     /calculated_mol_wt=53706
     Region          48..111
                     /region_name="Abi_HHR"
                     /note="Abl-interactor HHR; pfam07815"
                     /db_xref="CDD:429677"
     Region          <225..361
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          436..496
                     /region_name="SH3_Abi2"
                     /note="Src homology 3 domain of Abl Interactor 2; cd11972"
                     /db_xref="CDD:212905"
     Site            order(444,446,449,453,471..472,485,487..488)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212905"
     CDS             1..497
                     /gene="ABI2"
                     /gene_synonym="ABI-2; ABI2B; AblBP3; AIP-1; AIP1; argBP1;
                     argBPIA; argBPIB; SSH3BP2"
                     /coded_by="NM_001375679.1:333..1826"
                     /note="isoform s is encoded by transcript variant 24"
                     /db_xref="GeneID:10152"
                     /db_xref="HGNC:HGNC:24011"
                     /db_xref="MIM:606442"
ORIGIN      
        1 mscrcwisrh psyegwnlqs iifhkqirgv dlestfvtkf gnncslrlne tvdihkekva
       61 rreigilttn kntsrthkii apanlerpvr yirkpidyti lddighgvkw llrfkvstqn
      121 mkmgglprtt pptqkppspp msgkgtlgrh spyrtlepvr ppvvpndyvp sptrnmapsq
      181 qspvrtasvn qrnrtysssg ssggshpssr sssrensgsg svgvpiavpt psppsvfpap
      241 agsagtpplp atsasapapl vpatvpssta pdaaaggaqt ladgftsptp pvvsstpptg
      301 hpvqfysmnr pasrhtppti ggslpyrrpp sitsqtslqn qmnggpfysq npvslapppp
      361 silqvtpqlp lmgfvarvqe nisdtppppp pveepvfdes pppppppedy eeeeaavvey
      421 sdpyaeedpp waprsylekv vaiydytkdk edelsfqega iiyvikkndd gwyegvmngv
      481 tglfpgnyve simhyse
//
LOCUS       NP_001034671             426 aa            linear   PRI 21-DEC-2022
DEFINITION  calcium/calmodulin-dependent protein kinase type 1B isoform a [Homo
            sapiens].
ACCESSION   NP_001034671
VERSION     NP_001034671.3
DBSOURCE    REFSEQ: accession NM_001039582.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 426)
  AUTHORS   Cho YA, Choi S, Park S, Park CK and Ha SY.
  TITLE     Expression of Pregnancy Up-regulated Non-ubiquitous Calmodulin
            Kinase (PNCK) in Hepatocellular Carcinoma
  JOURNAL   Cancer Genomics Proteomics 17 (6), 747-755 (2020)
   PUBMED   33099476
  REMARK    GeneRIF: Expression of Pregnancy Up-regulated Non-ubiquitous
            Calmodulin Kinase (PNCK) in Hepatocellular Carcinoma.
REFERENCE   2  (residues 1 to 426)
  AUTHORS   Deb TB, Zuo AH, Barndt RJ, Sengupta S, Jankovic R and Johnson MD.
  TITLE     Pnck overexpression in HER-2 gene-amplified breast cancer causes
            Trastuzumab resistance through a paradoxical PTEN-mediated process
  JOURNAL   Breast Cancer Res Treat 150 (2), 347-361 (2015)
   PUBMED   25773930
  REMARK    GeneRIF: Pnck may be a marker of Trastuzumab resistance and
            possibly a therapeutic target in breast cancer.
REFERENCE   3  (residues 1 to 426)
  AUTHORS   Wu S, Lv Z, Wang Y, Sun L, Jiang Z, Xu C, Zhao J, Sun X, Li X, Hu
            L, Tang A, Gui Y, Zhou F, Cai Z and Wang R.
  TITLE     Increased expression of pregnancy up-regulated non-ubiquitous
            calmodulin kinase is associated with poor prognosis in clear cell
            renal cell carcinoma
  JOURNAL   PLoS One 8 (4), e59936 (2013)
   PUBMED   23634203
  REMARK    GeneRIF: the relationship between PNCK and prognosis in clear cell
            renal cell carcinoma
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 426)
  AUTHORS   Deb TB, Zuo AH, Wang Y, Barndt RJ, Cheema AK, Sengupta S, Coticchia
            CM and Johnson MD.
  TITLE     Pnck induces ligand-independent EGFR degradation by probable
            perturbation of the Hsp90 chaperone complex
  JOURNAL   Am J Physiol Cell Physiol 300 (5), C1139-C1154 (2011)
   PUBMED   21325639
  REMARK    GeneRIF: Pnck induces epidermal growth factor receptor degradation,
            most likely through perturbation of Hsp90 chaperone activity due to
            Hsp90 phosphorylation.  Epidermal growth factor receptor
            degradation is coupled to proteasomal degradation of Pnck.
REFERENCE   5  (residues 1 to 426)
  AUTHORS   Deb TB, Coticchia CM, Barndt R, Zuo H, Dickson RB and Johnson MD.
  TITLE     Pregnancy-upregulated nonubiquitous calmodulin kinase induces
            ligand-independent EGFR degradation
  JOURNAL   Am J Physiol Cell Physiol 295 (2), C365-C377 (2008)
   PUBMED   18562482
  REMARK    GeneRIF: Pnck induces ligand-independent EGFR degradation, and it
            may represent an attractive therapeutic target in EGFR-regulated
            oncogenesis.
REFERENCE   6  (residues 1 to 426)
  AUTHORS   Gardner HP, Ha SI, Reynolds C and Chodosh LA.
  TITLE     The caM kinase, Pnck, is spatially and temporally regulated during
            murine mammary gland development and may identify an epithelial
            cell subtype involved in breast cancer
  JOURNAL   Cancer Res 60 (19), 5571-5577 (2000)
   PUBMED   11034105
REFERENCE   7  (residues 1 to 426)
  AUTHORS   Gardner HP, Rajan JV, Ha SI, Copeland NG, Gilbert DJ, Jenkins NA,
            Marquis ST and Chodosh LA.
  TITLE     Cloning, characterization, and chromosomal localization of Pnck, a
            Ca(2+)/calmodulin-dependent protein kinase
  JOURNAL   Genomics 63 (2), 279-288 (2000)
   PUBMED   10673339
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK296203.1, DC383841.1, AK303746.1 and CF890832.1.
            On Oct 10, 2008 this sequence version replaced NP_001034671.2.
            
            Summary: PNCK is a member of the calcium/calmodulin-dependent
            protein kinase family of protein serine/threonine kinases (see
            CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed
            10673339]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296203.1, SRR7410570.694362.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..426
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..426
                     /product="calcium/calmodulin-dependent protein kinase type
                     1B isoform a"
                     /EC_number="2.7.11.17"
                     /note="pregnancy upregulated non-ubiquitously expressed
                     CaM kinase; calcium/calmodulin-dependent protein kinase
                     type 1B; caMKI-beta; caM-KI beta; caM kinase IB; caM
                     kinase I beta; pregnancy up-regulated
                     non-ubiquitously-expressed CaM kinase"
                     /calculated_mol_wt=46826
     Region          94..370
                     /region_name="STKc_CaMKI_beta"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Calcium/calmodulin-dependent protein kinase Type I beta;
                     cd14169"
                     /db_xref="CDD:271071"
     Site            order(104..108,112,125,127,157,173..176,180,182,218..219,
                     221,223..224,226,239..240,243,256..260,262)
                     /site_type="active"
                     /db_xref="CDD:271071"
     Site            order(104..107,112,125,127,157,173..176,180,223..224,226,
                     239..240)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271071"
     Site            order(108,180,182,218..219,221,223,243,256..260,262)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271071"
     Site            239..260
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271071"
     CDS             1..426
                     /gene="PNCK"
                     /gene_synonym="BSTK3; CaMK1b"
                     /coded_by="NM_001039582.3:187..1467"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS35503.2"
                     /db_xref="GeneID:139728"
                     /db_xref="HGNC:HGNC:13415"
                     /db_xref="MIM:300680"
ORIGIN      
        1 meaafgqvag sacprrggeg rdwkaeslad lwpksspgds hrwckgpgag pagpqlreaa
       61 rassglgggg rhpsripaia lqdmlllkkh tedissvyei rerlgsgafs evvlaqergs
      121 ahlvalkcip kkalrgkeal veneiavlrr ishpnivale dvhespshly lamelvtgge
      181 lfdrimergs ytekdashlv gqvlgavsyl hslgivhrdl kpenllyatp fedskimvsd
      241 fglskiqagn mlgtacgtpg yvapelleqk pygkavdvwa lgvisyillc gyppfydesd
      301 pelfsqilra syefdspfwd disesakdfi rhllerdpqk rftcqqalrh lwisgdtafd
      361 rdilgsvseq irknfarthw krafnatsfl rhirklgqip egegaseqgm arhshsglra
      421 gqppkw
//
LOCUS       NP_001295043             458 aa            linear   PRI 23-DEC-2022
DEFINITION  nuclear transcription factor Y subunit gamma isoform 6 [Homo
            sapiens].
ACCESSION   NP_001295043 XP_005270950
VERSION     NP_001295043.1
DBSOURCE    REFSEQ: accession NM_001308114.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 458)
  AUTHORS   Goos H, Kinnunen M, Salokas K, Tan Z, Liu X, Yadav L, Zhang Q, Wei
            GH and Varjosalo M.
  TITLE     Human transcription factor protein interaction networks
  JOURNAL   Nat Commun 13 (1), 766 (2022)
   PUBMED   35140242
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 458)
  AUTHORS   van der Plaat DA, Vonk JM, Lahousse L, de Jong K, Faiz A,
            Nedeljkovic I, Amin N, van Diemen CC, Brusselle GG, Bosse Y,
            Brandsma CA, Hao K, Pare PD, van Duijn CM, Postma DS and Boezen HM.
  TITLE     Limited overlap in significant hits between genome-wide association
            studies on two airflow obstruction definitions in the same
            population
  JOURNAL   BMC Pulm Med 19 (1), 58 (2019)
   PUBMED   30845926
  REMARK    GeneRIF: The genes FABP7 and NFYC(-AS1) could play a role in
            airflow obstruction in never-smokers specifically.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 458)
  AUTHORS   Wang Y, Weng H, Zhang Y, Long Y, Li Y, Niu Y, Song F and Bu Y.
  TITLE     The PRR11-SKA2 Bidirectional Transcription Unit Is Negatively
            Regulated by p53 through NF-Y in Lung Cancer Cells
  JOURNAL   Int J Mol Sci 18 (3), 534 (2017)
   PUBMED   28257042
  REMARK    GeneRIF: p53 negatively regulates the expression of the PRR11-SKA2
            bidirectional transcription unit through NF-Y, suggesting that the
            inability to repress the PRR11-SKA2 bidirectional transcription
            unit after loss of p53 might contribute to tumorigenesis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 458)
  AUTHORS   Cui H, Zhang M, Wang Y and Wang Y.
  TITLE     NF-YC in glioma cell proliferation and tumor growth and its role as
            an independent predictor of patient survival
  JOURNAL   Neurosci Lett 631, 40-49 (2016)
   PUBMED   27495011
  REMARK    GeneRIF: NF-YC was significantly increased in gliomas. Knockdown of
            NF-YC reduced brain tumor size in vivo. NF-YC played as an
            independent predictor of patient survival.
REFERENCE   5  (residues 1 to 458)
  AUTHORS   Moeinvaziri F and Shahhoseini M.
  TITLE     Epigenetic role of CCAAT box-binding transcription factor NF-Y on
            ID gene family in human embryonic carcinoma cells
  JOURNAL   IUBMB Life 67 (11), 880-887 (2015)
   PUBMED   26509926
  REMARK    GeneRIF: Presence of NF-Y transcription factor plays a pivotal role
            in transcriptional regulation of ID genes in development.
REFERENCE   6  (residues 1 to 458)
  AUTHORS   Dmitrenko V, Garifulin O and Kavsan V.
  TITLE     Isolation and sequence analysis of the cDNA encoding subunit C of
            human CCAAT-binding transcription factor
  JOURNAL   Gene 197 (1-2), 161-163 (1997)
   PUBMED   9332362
REFERENCE   7  (residues 1 to 458)
  AUTHORS   Bellorini M, Zemzoumi K, Farina A, Berthelsen J, Piaggio G and
            Mantovani R.
  TITLE     Cloning and expression of human NF-YC
  JOURNAL   Gene 193 (1), 119-125 (1997)
   PUBMED   9249075
REFERENCE   8  (residues 1 to 458)
  AUTHORS   Nakshatri H, Bhat-Nakshatri P and Currie RA.
  TITLE     Subunit association and DNA binding activity of the heterotrimeric
            transcription factor NF-Y is regulated by cellular redox
  JOURNAL   J Biol Chem 271 (46), 28784-28791 (1996)
   PUBMED   8910521
REFERENCE   9  (residues 1 to 458)
  AUTHORS   Sinha S, Maity SN, Seldin MF and de Crombrugghe B.
  TITLE     Chromosomal assignment and tissue expression of CBF-C/NFY-C, the
            third subunit of the mammalian CCAAT-binding factor
  JOURNAL   Genomics 37 (2), 260-263 (1996)
   PUBMED   8921405
REFERENCE   10 (residues 1 to 458)
  AUTHORS   Martinelli R and Heintz N.
  TITLE     H1TF2A, the large subunit of a heterodimeric, glutamine-rich
            CCAAT-binding transcription factor involved in histone H1 cell
            cycle regulation
  JOURNAL   Mol Cell Biol 14 (12), 8322-8332 (1994)
   PUBMED   7969168
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP230898.1, AF191744.1,
            AK000346.1 and BU634106.1.
            On May 15, 2015 this sequence version replaced XP_005270950.1.
            
            Summary: This gene encodes one subunit of a trimeric complex
            forming a highly conserved transcription factor that binds with
            high specificity to CCAAT motifs in the promoters of a variety of
            genes. The encoded protein, subunit C, forms a tight dimer with the
            B subunit, a prerequisite for subunit A association. The resulting
            trimer binds to DNA with high specificity and affinity. Subunits B
            and C each contain a histone-like motif. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2008].
            
            Transcript Variant: This variant (6) differs in the 5' UTR and uses
            an alternate in-frame splice acceptor site in the 3' terminal exon
            compared to variant 1. The resulting isoform (6) has the same N-
            and C- termini but contains an additional segment in the 3' coding
            region, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF191744.1, SRR9304715.457112.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..458
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..458
                     /product="nuclear transcription factor Y subunit gamma
                     isoform 6"
                     /note="transactivator HSM-1; histone H1 transcription
                     factor large subunit 2A; CCAAT transcription binding
                     factor subunit gamma; transcription factor NF-Y, C
                     subunit; CCAAT binding factor subunit C; transactivator
                     HSM-1/2; CAAT box DNA-binding protein subunit C; nuclear
                     transcription factor Y subunit C; nuclear transcription
                     factor Y, gamma"
                     /calculated_mol_wt=50171
     Region          <17..>123
                     /region_name="HAP5"
                     /note="CCAAT-binding factor, subunit C [Transcription];
                     COG5208"
                     /db_xref="CDD:227533"
     Region          305..379
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13952.3)"
     CDS             1..458
                     /gene="NFYC"
                     /gene_synonym="CBF-C; CBFC; H1TF2A; HAP5; HSM; NF-YC"
                     /coded_by="NM_001308114.1:9..1385"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS81305.1"
                     /db_xref="GeneID:4802"
                     /db_xref="HGNC:HGNC:7806"
                     /db_xref="MIM:605344"
ORIGIN      
        1 msteggfggt sssdaqqslq sfwprvmeei rnltvkdfrv qelplarikk imkldedvkm
       61 isaeapvlfa kaaqifitel tlrawihted nkrrtlqrnd iamaitkfdq fdflidivpr
      121 delkppkrqe evrqsvtpae pvqyyftlaq qptavqvqgq qqgqqttsst ttiqpgqiii
      181 aqpqqgqttp vtmqvgegqq vqivqaqpqg qaqqaqsgtg qtmqvmqqii tntgeiqqip
      241 vqlnagqlqy irlaqpvsgt qvvqgqiqtl atnaqqgqrn asqgkprrcl ketlqitqte
      301 vqqgqqqfsq ftdgqrnsvq qarvseltge aeprevkatg nstpctsslp tthppshrag
      361 ascvccsqpq qsstspppsd alqwvvvevs gtpnqlethr elhaplpgmt slsplhpsqq
      421 lyqiqqvtmp agqdlaqpmf iqsanqpsdg qapqvtgd
//
LOCUS       NP_001303694             566 aa            linear   PRI 27-DEC-2022
DEFINITION  uncharacterized protein C2orf81 isoform 2 [Homo sapiens].
ACCESSION   NP_001303694
VERSION     NP_001303694.1
DBSOURCE    REFSEQ: accession NM_001316765.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 566)
  AUTHORS   Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P,
            Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell
            GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H,
            Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak
            A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P,
            Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M,
            Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T,
            Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS,
            Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K,
            McLellan MD, Meyer R, Randall-Maher J, Tomlinson C,
            Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid
            S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C,
            Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam
            AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW,
            Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L,
            Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL,
            Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli
            FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X,
            McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy
            SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P,
            Suyama M, Torrents D, Waterston RH and Wilson RK.
  TITLE     Generation and annotation of the DNA sequences of human chromosomes
            2 and 4
  JOURNAL   Nature 434 (7034), 724-731 (2005)
   PUBMED   15815621
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY047622.1, AC005041.2 and BX102034.1.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 5' coding region compared to variant 1. The encoded isoform
            (2) is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HY047622.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..566
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     Protein         1..566
                     /product="uncharacterized protein C2orf81 isoform 2"
                     /note="uncharacterized protein C2orf81"
                     /calculated_mol_wt=61107
     Region          9..565
                     /region_name="DUF4639"
                     /note="Domain of unknown function (DUF4639); pfam15479"
                     /db_xref="CDD:434745"
     CDS             1..566
                     /gene="C2orf81"
                     /gene_synonym="hCG40743"
                     /coded_by="NM_001316765.2:60..1760"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:388963"
                     /db_xref="HGNC:HGNC:34350"
ORIGIN      
        1 mahegsrqer qvrdrgvtrs kaekvrpptv pvpqcipfti sqareamlqi tewrflarde
       61 gesavaedpt wgedeepsac ttdswaqgsv pvlhastseg lenfqgevhs sgaspdssai
      121 apalpfptsh cpsafpqdpg gvdriplgrs wmgrgsqeqm eswepspqlr vtsappptse
      181 lfqeagpggp veeadgqsrg lssagslsas fqlsveeapa ddadpsldpy lvaspqastg
      241 rghplgfhls ledlyccmpq ldaagdrlel rsegvpcias gvlvsypsvg gatrpsascq
      301 qqraghsdvr lsahhhrmrr kaavkrldpa rlpchwvrpl aevlvpdsqt rpleayrgrq
      361 rgektkarae pqalgpgtrv spaaffplrp gipfrdldsg pallfptlnl glsspslesk
      421 lplpnsrirf ltthpvlpdv arsrspklwp svrwpsgweg kaellgelwa grtrvppqgl
      481 eladregqdp grwprttppv leatsqvmwk pvllpealkl apgvsmwnrs tqvllssgvp
      541 eqedkegstf ppveqhpiqt gapkpr
//
LOCUS       NP_001156787             701 aa            linear   PRI 27-DEC-2022
DEFINITION  F-box/LRR-repeat protein 17 [Homo sapiens].
ACCESSION   NP_001156787
VERSION     NP_001156787.2
DBSOURCE    REFSEQ: accession NM_001163315.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 701)
  AUTHORS   Mena EL, Jevtic P, Greber BJ, Gee CL, Lew BG, Akopian D, Nogales E,
            Kuriyan J and Rape M.
  TITLE     Structural basis for dimerization quality control
  JOURNAL   Nature 586 (7829), 452-456 (2020)
   PUBMED   32814905
  REMARK    GeneRIF: Structural basis for dimerization quality control.
REFERENCE   2  (residues 1 to 701)
  AUTHORS   Mason B, Flach S, Teixeira FR, Manzano Garcia R, Rueda OM, Abraham
            JE, Caldas C, Edwards PAW and Laman H.
  TITLE     Fbxl17 is rearranged in breast cancer and loss of its activity
            leads to increased global O-GlcNAcylation
  JOURNAL   Cell Mol Life Sci 77 (13), 2605-2620 (2020)
   PUBMED   31560077
  REMARK    GeneRIF: Rearrangements of Fbxl17 in breast cancer affect its
            ability to bind substrates and to assemble as part of a functional
            SCF ubiquitin ligase complex.
REFERENCE   3  (residues 1 to 701)
  AUTHORS   Mena EL, Kjolby RAS, Saxton RA, Werner A, Lew BG, Boyle JM, Harland
            R and Rape M.
  TITLE     Dimerization quality control ensures neuronal development and
            survival
  JOURNAL   Science 362 (6411) (2018)
   PUBMED   30190310
REFERENCE   4  (residues 1 to 701)
  AUTHORS   Raducu M, Fung E, Serres S, Infante P, Barberis A, Fischer R,
            Bristow C, Thezenas ML, Finta C, Christianson JC, Buffa FM, Kessler
            BM, Sibson NR, Di Marcotullio L, Toftgard R and D'Angiolella V.
  TITLE     SCF (Fbxl17) ubiquitylation of Sufu regulates Hedgehog signaling
            and medulloblastoma development
  JOURNAL   EMBO J 35 (13), 1400-1416 (2016)
   PUBMED   27234298
  REMARK    GeneRIF: In summary, these findings reveal Fbxl17 as a novel
            regulator of the Hedgehog signaling pathway and highlight the
            perturbation of the Fbxl17-Sufu axis in the pathogenesis of
            medulloblastoma.
REFERENCE   5  (residues 1 to 701)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen
            AA, Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke
            L, Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM,
            Tiemeier H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst
            FC, Ward ME, Wright MJ, Davey Smith G, Deary IJ, Johannesson M,
            Plomin R, Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   6  (residues 1 to 701)
  AUTHORS   Candille SI, Absher DM, Beleza S, Bauchet M, McEvoy B, Garrison NA,
            Li JZ, Myers RM, Barsh GS, Tang H and Shriver MD.
  TITLE     Genome-wide association studies of quantitatively measured skin,
            hair, and eye pigmentation in four European populations
  JOURNAL   PLoS One 7 (10), e48294 (2012)
   PUBMED   23118974
REFERENCE   7  (residues 1 to 701)
  AUTHORS   Hart AB, Engelhardt BE, Wardle MC, Sokoloff G, Stephens M, de Wit H
            and Palmer AA.
  TITLE     Genome-wide association study of d-amphetamine response in healthy
            volunteers identifies putative associations, including cadherin 13
            (CDH13)
  JOURNAL   PLoS One 7 (8), e42646 (2012)
   PUBMED   22952603
REFERENCE   8  (residues 1 to 701)
  AUTHORS   Ichikawa S, Koller DL, Padgett LR, Lai D, Hui SL, Peacock M, Foroud
            T and Econs MJ.
  TITLE     Replication of previous genome-wide association studies of bone
            mineral density in premenopausal American women
  JOURNAL   J Bone Miner Res 25 (8), 1821-1829 (2010)
   PUBMED   20200978
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 701)
  AUTHORS   Xiao GG, Zhou BS, Somlo G, Portnow J, Juhasz A, Un F, Chew H,
            Gandara D and Yen Y.
  TITLE     Identification of F-box/LLR-repeated protein 17 as potential useful
            biomarker for breast cancer therapy
  JOURNAL   Cancer Genomics Proteomics 5 (3-4), 151-160 (2008)
   PUBMED   18820369
  REMARK    GeneRIF: F-box protein 17 (FBXL17) can serve as a therapeutic
            target and surrogate marker for breast cancer therapy.
            Erratum:[Cancer Genomics Proteomics. 2010 May-Jun;7(3):171]
REFERENCE   10 (residues 1 to 701)
  AUTHORS   Jin,J., Cardozo,T., Lovering,R.C., Elledge,S.J., Pagano,M. and
            Harper,J.W.
  TITLE     Systematic analysis and nomenclature of mammalian F-box proteins
  JOURNAL   Genes Dev 18 (21), 2573-2580 (2004)
   PUBMED   15520277
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008462.6, AC092274.2, AC008513.7 and AC011419.7.
            On Aug 8, 2009 this sequence version replaced NP_001156787.1.
            
            Summary: Members of the F-box protein family, such as FBXL17, are
            characterized by an approximately 40-amino acid F-box motif. SCF
            complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM
            603134), and F-box proteins, act as protein-ubiquitin ligases.
            F-box proteins interact with SKP1 through the F box, and they
            interact with ubiquitination targets through other protein
            interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied
            by OMIM, Mar 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3929799.1,
                                           SRR14038191.2795187.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000542267.7/ ENSP00000437464.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..701
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q21.3"
     Protein         1..701
                     /product="F-box/LRR-repeat protein 17"
                     /note="F-box only protein 13"
                     /calculated_mol_wt=75564
     Region          1..20
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UF56.3)"
     Region          72..94
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UF56.3)"
     Region          227..300
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UF56.3)"
     Region          320..368
                     /region_name="F-box_FBXO13"
                     /note="F-box domain found in F-box only protein 13
                     (FBXO13) and similar proteins; cd22092"
                     /db_xref="CDD:438864"
     Site            order(324,328,331..332,335..336,340,342..343,348..350,352)
                     /site_type="other"
                     /note="putative Skp1 binding site [polypeptide binding]"
                     /db_xref="CDD:438864"
     Region          362..387
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          388..413
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          411..573
                     /region_name="AMN1"
                     /note="Antagonist of mitotic exit network protein 1;
                     cd09293"
                     /db_xref="CDD:187754"
     Region          414..439
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          440..465
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          466..491
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          492..517
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          542..567
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          547..>660
                     /region_name="AMN1"
                     /note="Antagonist of mitotic exit network protein 1;
                     cd09293"
                     /db_xref="CDD:187754"
     Region          568..618
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          619..644
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          645..670
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     CDS             1..701
                     /gene="FBXL17"
                     /gene_synonym="Fbl17; Fbx13; FBXO13"
                     /coded_by="NM_001163315.3:408..2513"
                     /db_xref="CCDS:CCDS54886.1"
                     /db_xref="GeneID:64839"
                     /db_xref="HGNC:HGNC:13615"
                     /db_xref="MIM:609083"
ORIGIN      
        1 mghllskepr nrpsqkrprc cswcrrrrpl lrlprrtpak vppqpaaprs rdcffrgpcm
       61 lcfivhspga papagpeeep plsppprdga yaaasssqhl arryaalaae dcaaaarrfl
      121 lssaaaaaaa aasasspasc ckelglaaaa aweqqgrslf laslgpvrfl gppaavqlfr
      181 gptpspaelp tppemvckrk gagvpactpc kqprcggggc gggggggggg gpagggaspp
      241 rppdagccqa peqppqplcp ppssptsega pteaggdavr aggtaplsaq qqhecgdadc
      301 respenpcdc hrepppetpd inqlppsill kifsnlslde rclsaslvck ywrdlcldfq
      361 fwkqldlssr qqvtdellek iasrsqniie inisdcrsms dngvcvlafk cpgllrytay
      421 rckqlsdtsi iavashcpll qkvhvgnqdk ltdeglkqlg skcrelkdih fgqcykisde
      481 gmiviakgcl klqriymqen klvtdqsvka faehcpelqy vgfmgcsvts kgvihltklr
      541 nlssldlrhi teldnetvme ivkrcknlss lnlclnwiin drcveviake gqnlkelylv
      601 sckitdyali aigrysmtie tvdvgwckei tdqgatliaq sskslrylgl mrcdkvnevt
      661 veqlvqqyph itfstvlqdc krtlerayqm gwtpnmsaas s
//
LOCUS       NP_001304107             138 aa            linear   PRI 29-DEC-2022
DEFINITION  MICOS complex subunit MIC19 isoform 3 [Homo sapiens].
ACCESSION   NP_001304107 XP_011514666
VERSION     NP_001304107.1
DBSOURCE    REFSEQ: accession NM_001317178.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 138)
  AUTHORS   Pape JK, Stephan T, Balzarotti F, Buchner R, Lange F, Riedel D,
            Jakobs S and Hell SW.
  TITLE     Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS proteins
  JOURNAL   Proc Natl Acad Sci U S A 117 (34), 20607-20614 (2020)
   PUBMED   32788360
  REMARK    GeneRIF: Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS
            proteins.
REFERENCE   2  (residues 1 to 138)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 138)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 138)
  AUTHORS   Tang J, Zhang K, Dong J, Yan C, Hu C, Ji H, Chen L, Chen S, Zhao H
            and Song Z.
  TITLE     Sam50-Mic19-Mic60 axis determines mitochondrial cristae
            architecture by mediating mitochondrial outer and inner membrane
            contact
  JOURNAL   Cell Death Differ 27 (1), 146-160 (2020)
   PUBMED   31097788
  REMARK    GeneRIF: Sam50-Mic19-Mic60 axis determines mitochondrial cristae
            architecture by mediating mitochondrial outer and inner membrane
            contact.
REFERENCE   5  (residues 1 to 138)
  AUTHORS   Darshi M, Mendiola VL, Mackey MR, Murphy AN, Koller A, Perkins GA,
            Ellisman MH and Taylor SS.
  TITLE     ChChd3, an inner mitochondrial membrane protein, is essential for
            maintaining crista integrity and mitochondrial function
  JOURNAL   J Biol Chem 286 (4), 2918-2932 (2011)
   PUBMED   21081504
  REMARK    GeneRIF: ChChd3 is a scaffolding protein that stabilizes protein
            complexes involved in maintaining crista architecture and protein
            import and is thus essential for maintaining mitochondrial
            structure and function.
REFERENCE   6  (residues 1 to 138)
  AUTHORS   Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G,
            Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK,
            Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek
            WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT,
            McManus R, van Heel DA and Wijmenga C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 138)
  AUTHORS   Hendrickx A, Beullens M, Ceulemans H, Den Abt T, Van Eynde A,
            Nicolaescu E, Lesage B and Bollen M.
  TITLE     Docking motif-guided mapping of the interactome of protein
            phosphatase-1
  JOURNAL   Chem Biol 16 (4), 365-371 (2009)
   PUBMED   19389623
REFERENCE   8  (residues 1 to 138)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   9  (residues 1 to 138)
  AUTHORS   Xie J, Marusich MF, Souda P, Whitelegge J and Capaldi RA.
  TITLE     The mitochondrial inner membrane protein mitofilin exists as a
            complex with SAM50, metaxins 1 and 2, coiled-coil-helix
            coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11
  JOURNAL   FEBS Lett 581 (18), 3545-3549 (2007)
   PUBMED   17624330
  REMARK    GeneRIF: mitofilin helps regulate mitochondrial morphology and at
            least four of the associated proteins (metaxins 1 and 2, SAM50 and
            CHCHD3) have been implicated in protein import
REFERENCE   10 (residues 1 to 138)
  AUTHORS   Nousiainen M, Sillje HH, Sauer G, Nigg EA and Korner R.
  TITLE     Phosphoproteome analysis of the human mitotic spindle
  JOURNAL   Proc Natl Acad Sci U S A 103 (14), 5391-5396 (2006)
   PUBMED   16565220
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC385940.1, AK294071.1 and
            AC008038.1.
            On Mar 21, 2016 this sequence version replaced XP_011514666.1.
            
            Summary: The protein encoded by this gene is an inner mitochondrial
            membrane scaffold protein. Absence of the encoded protein affects
            the structural integrity of mitochondrial cristae and leads to
            reductions in ATP production, cell growth, and oxygen consumption.
            This protein is part of the mitochondrial contact site and cristae
            organizing system (MICOS). Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Nov 2015].
            
            Transcript Variant: This variant (3) differs in the 3' UTR and
            coding sequence and lacks an alternate in-frame exon compared to
            variant 1. The resulting isoform (3) has a shorter and distinct
            C-terminus and lacks an internal segment compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK294071.1, BM906337.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 17624330, 21081504;
                                                  reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..138
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.3-q33"
     Protein         1..138
                     /product="MICOS complex subunit MIC19 isoform 3"
                     /note="coiled-coil-helix-coiled-coil-helix
                     domain-containing protein 3, mitochondrial; mitochondrial
                     inner membrane organizing system 3; protein phosphatase 1,
                     regulatory subunit 22; MICOS complex subunit MIC19;
                     mitochondrial contact site and cristae organizing system
                     subunit 19"
                     /calculated_mol_wt=15427
     Region          29..>125
                     /region_name="DUF737"
                     /note="Protein of unknown function (DUF737); pfam05300"
                     /db_xref="CDD:428415"
     Site            29
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NX63.1)"
     Region          34..61
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX63.1)"
     Site            49
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NX63.1)"
     Site            50
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9NX63.1)"
     Site            56
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CRB9; propagated from
                     UniProtKB/Swiss-Prot (Q9NX63.1)"
     Site            58
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NX63.1)"
     Region          73..92
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX63.1)"
     CDS             1..138
                     /gene="CHCHD3"
                     /gene_synonym="Mic19; MICOS19; MINOS3; PPP1R22"
                     /coded_by="NM_001317178.2:154..570"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:54927"
                     /db_xref="HGNC:HGNC:21906"
                     /db_xref="MIM:613748"
ORIGIN      
        1 mggttstrrv tfeadeneni tvvkgirlse nvidrmkess psgsksqrys gaygasvsde
       61 elkrrvaeel aleqakkese dqkrlkqake ldreraaane qltrailrer icseeeraka
      121 khlikvellw vkpgvlta
//
LOCUS       NP_001400294             365 aa            linear   PRI 01-JAN-2023
DEFINITION  telomeric repeat-binding factor 1 isoform 5 [Homo sapiens].
ACCESSION   NP_001400294 XP_011515884
VERSION     NP_001400294.1
DBSOURCE    REFSEQ: accession NM_001413365.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 365)
  AUTHORS   Abreu PL, Lee YW and Azzalin CM.
  TITLE     In Vitro Characterization of the Physical Interactions between the
            Long Noncoding RNA TERRA and the Telomeric Proteins TRF1 and TRF2
  JOURNAL   Int J Mol Sci 23 (18), 10463 (2022)
   PUBMED   36142374
  REMARK    GeneRIF: In Vitro Characterization of the Physical Interactions
            between the Long Noncoding RNA TERRA and the Telomeric Proteins
            TRF1 and TRF2.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 365)
  AUTHORS   Jack A, Kim Y, Strom AR, Lee DSW, Williams B, Schaub JM, Kellogg
            EH, Finkelstein IJ, Ferro LS, Yildiz A and Brangwynne CP.
  TITLE     Compartmentalization of telomeres through DNA-scaffolded phase
            separation
  JOURNAL   Dev Cell 57 (2), 277-290 (2022)
   PUBMED   35077681
  REMARK    GeneRIF: Compartmentalization of telomeres through DNA-scaffolded
            phase separation.
REFERENCE   3  (residues 1 to 365)
  AUTHORS   Dos Santos GA, Viana NI, Pimenta R, Guimaraes VR, de Camargo JA,
            Romao P, Reis ST, Leite KRM and Srougi M.
  TITLE     Prognostic value of TERF1 expression in prostate cancer
  JOURNAL   J Egypt Natl Canc Inst 33 (1), 24 (2021)
   PUBMED   34486082
  REMARK    GeneRIF: Prognostic value of TERF1 expression in prostate cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 365)
  AUTHORS   Pan H, Kaur P, Barnes R, Detwiler AC, Sanford SL, Liu M, Xu P, Mahn
            C, Tang Q, Hao P, Bhattaram D, You C, Gu X, Lu W, Piehler J, Xu G,
            Weninger K, Riehn R, Opresko PL and Wang H.
  TITLE     Structure, dynamics, and regulation of TRF1-TIN2-mediated trans-
            and cis-interactions on telomeric DNA
  JOURNAL   J Biol Chem 297 (3), 101080 (2021)
   PUBMED   34403696
  REMARK    GeneRIF: Structure, dynamics, and regulation of TRF1-TIN2-mediated
            trans- and cis-interactions on telomeric DNA.
REFERENCE   5  (residues 1 to 365)
  AUTHORS   Chang X, Gurung RL, Wang L, Jin A, Li Z, Wang R, Beckman KB,
            Adams-Haduch J, Meah WY, Sim KS, Lim WK, Davila S, Tan P, Teo JX,
            Yeo KK, M Y, Liu S, Lim SC, Liu J, van Dam RM, Friedlander Y, Koh
            WP, Yuan JM, Khor CC, Heng CK and Dorajoo R.
  TITLE     Low frequency variants associated with leukocyte telomere length in
            the Singapore Chinese population
  JOURNAL   Commun Biol 4 (1), 519 (2021)
   PUBMED   33941849
  REMARK    GeneRIF: Low frequency variants associated with leukocyte telomere
            length in the Singapore Chinese population.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 365)
  AUTHORS   Broccoli D, Chong L, Oelmann S, Fernald AA, Marziliano N, van
            Steensel B, Kipling D, Le Beau MM and de Lange T.
  TITLE     Comparison of the human and mouse genes encoding the telomeric
            protein, TRF1: chromosomal localization, expression and conserved
            protein domains
  JOURNAL   Hum Mol Genet 6 (1), 69-76 (1997)
   PUBMED   9002672
REFERENCE   7  (residues 1 to 365)
  AUTHORS   Lu KP, Hanes SD and Hunter T.
  TITLE     A human peptidyl-prolyl isomerase essential for regulation of
            mitosis
  JOURNAL   Nature 380 (6574), 544-547 (1996)
   PUBMED   8606777
REFERENCE   8  (residues 1 to 365)
  AUTHORS   Bilaud T, Koering CE, Binet-Brasselet E, Ancelin K, Pollice A,
            Gasser SM and Gilson E.
  TITLE     The telobox, a Myb-related telomeric DNA binding motif found in
            proteins from yeast, plants and human
  JOURNAL   Nucleic Acids Res 24 (7), 1294-1303 (1996)
   PUBMED   8614633
REFERENCE   9  (residues 1 to 365)
  AUTHORS   Chong L, van Steensel B, Broccoli D, Erdjument-Bromage H, Hanish J,
            Tempst P and de Lange T.
  TITLE     A human telomeric protein
  JOURNAL   Science 270 (5242), 1663-1667 (1995)
   PUBMED   7502076
REFERENCE   10 (residues 1 to 365)
  AUTHORS   Zhong Z, Shiue L, Kaplan S and de Lange T.
  TITLE     A mammalian factor that binds telomeric TTAGGG repeats in vitro
  JOURNAL   Mol Cell Biol 12 (11), 4834-4843 (1992)
   PUBMED   1406665
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022893.6.
            On Oct 31, 2022 this sequence version replaced XP_011515884.1.
            
            Summary: This gene encodes a telomere specific protein which is a
            component of the telomere nucleoprotein complex. This protein is
            present at telomeres throughout the cell cycle and functions as an
            inhibitor of telomerase, acting in cis to limit the elongation of
            individual chromosome ends. The protein structure contains a
            C-terminal Myb motif, a dimerization domain near its N-terminus and
            an acidic N-terminus. Multiple transcripts of this gene are
            alternatively spliced products. [provided by RefSeq, Aug 2022].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.1070081.1,
                                           SRR3476690.649618.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..365
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.11"
     Protein         1..365
                     /product="telomeric repeat-binding factor 1 isoform 5"
                     /note="NIMA-interacting protein 2; telomeric protein
                     Pin2/TRF1; TTAGGG repeat-binding factor 1; telomeric
                     repeat binding factor (NIMA-interacting) 1"
                     /calculated_mol_wt=42256
     Region          1..160
                     /region_name="TRFH"
                     /note="Telomeric Repeat binding Factor or TTAGGG Repeat
                     binding Factor, central (dimerization) domain Homology;
                     TRFH. Telomeres are protein/DNA complexes that make up the
                     physical ends of eukaryotic linear chromosomes and are
                     essential for chromosome stability; cl02779"
                     /db_xref="CDD:413471"
     Site            order(2,5,19,23,27,37..41,49,52..53,56)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:238174"
     Region          307..355
                     /region_name="SANT_TRF"
                     /note="Telomere repeat binding factor-like DNA-binding
                     domains of the SANT/myb-like family; cd11660"
                     /db_xref="CDD:212558"
     Site            order(307..309,327,329..330,341,343..345,347..349,
                     351..352)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:212558"
     CDS             1..365
                     /gene="TERF1"
                     /gene_synonym="hTRF1-AS; PIN2; t-TRF1; TRBF1; TRF; TRF1"
                     /coded_by="NM_001413365.1:412..1509"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:7013"
                     /db_xref="HGNC:HGNC:11728"
                     /db_xref="MIM:600951"
ORIGIN      
        1 mftiihglss ltacqlrtiy icqfltriaa gktldaqfen deritplesa lmiwgsieke
       61 hdklheeiqn likiqaiavc mengnfkeae evferifgdp nshmpfkskl lmiisqkdtf
      121 hsffqhfsyn hmmekiksyv nyvlseksst flmkaaakvv eskrtrtits qdkpsgndve
      181 meteanldtr ksvsdkqsav tessegtvsl lrshknlfls klqhgtqqqd lnkkerrvgt
      241 pqityicltk ltmnkkegvr kglcflvllk hyrtkkkkes rratesripv sksqpvtpek
      301 hrarkrqawl weedknlrsg vrkygegnws killhykfnn rtsvmlkdrw rtmkklklis
      361 sdsed
//
LOCUS       NP_003760                221 aa            linear   PRI 12-MAR-2023
DEFINITION  serine/arginine-rich splicing factor 9 [Homo sapiens].
ACCESSION   NP_003760
VERSION     NP_003760.1
DBSOURCE    REFSEQ: accession NM_003769.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 221)
  AUTHORS   Kim GN, Yu KL, Kim HI and You JC.
  TITLE     Investigation of the effect of SRSF9 overexpression on HIV-1
            production
  JOURNAL   BMB Rep 55 (12), 639-644 (2022)
   PUBMED   36330710
  REMARK    GeneRIF: Investigation of the effect of SRSF9 overexpression on
            HIV-1 production.
REFERENCE   2  (residues 1 to 221)
  AUTHORS   Zhang G, Liu B, Shang H, Wu G, Wu D, Wang L, Li S, Wang Z, Wang S
            and Yuan J.
  TITLE     High expression of serine and arginine-rich splicing factor 9
            (SRSF9) is associated with hepatocellular carcinoma progression and
            a poor prognosis
  JOURNAL   BMC Med Genomics 15 (1), 180 (2022)
   PUBMED   35971121
  REMARK    GeneRIF: High expression of serine and arginine-rich splicing
            factor 9 (SRSF9) is associated with hepatocellular carcinoma
            progression and a poor prognosis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 221)
  AUTHORS   Wang X, Lu X, Wang P, Chen Q, Xiong L, Tang M, Hong C, Lin X, Shi
            K, Liang L and Lin J.
  TITLE     SRSF9 promotes colorectal cancer progression via stabilizing DSN1
            mRNA in an m6A-related manner
  JOURNAL   J Transl Med 20 (1), 198 (2022)
   PUBMED   35509101
  REMARK    GeneRIF: SRSF9 promotes colorectal cancer progression via
            stabilizing DSN1 mRNA in an m6A-related manner.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 221)
  AUTHORS   Ha J, Jang H, Choi N, Oh J, Min C, Pradella D, Jung DW, Williams
            DR, Park D, Ghigna C, Zheng X and Shen H.
  TITLE     SRSF9 Regulates Cassette Exon Splicing of Caspase-2 by Interacting
            with Its Downstream Exon
  JOURNAL   Cells 10 (3), 679 (2021)
   PUBMED   33808656
  REMARK    GeneRIF: SRSF9 Regulates Cassette Exon Splicing of Caspase-2 by
            Interacting with Its Downstream Exon.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 221)
  AUTHORS   Matsumoto E, Matsumoto Y, Inoue J, Yamamoto Y and Suzuki T.
  TITLE     AMP-activated protein kinase regulates beta-catenin protein
            synthesis by phosphorylating serine/arginine-rich splicing factor 9
  JOURNAL   Biochem Biophys Res Commun 534, 347-352 (2021)
   PUBMED   33248688
  REMARK    GeneRIF: AMP-activated protein kinase regulates beta-catenin
            protein synthesis by phosphorylating serine/arginine-rich splicing
            factor 9.
REFERENCE   6  (residues 1 to 221)
  AUTHORS   Stoss O, Schwaiger FW, Cooper TA and Stamm S.
  TITLE     Alternative splicing determines the intracellular localization of
            the novel nuclear protein Nop30 and its interaction with the
            splicing factor SRp30c
  JOURNAL   J Biol Chem 274 (16), 10951-10962 (1999)
   PUBMED   10196175
REFERENCE   7  (residues 1 to 221)
  AUTHORS   Petersen-Mahrt SK, Estmer C, Ohrmalm C, Matthews DA, Russell WC and
            Akusjarvi G.
  TITLE     The splicing factor-associated protein, p32, regulates RNA splicing
            by inhibiting ASF/SF2 RNA binding and phosphorylation
  JOURNAL   EMBO J 18 (4), 1014-1024 (1999)
   PUBMED   10022843
REFERENCE   8  (residues 1 to 221)
  AUTHORS   Yuan Y, Li DM and Sun H.
  TITLE     PIR1, a novel phosphatase that exhibits high affinity to RNA .
            ribonucleoprotein complexes
  JOURNAL   J Biol Chem 273 (32), 20347-20353 (1998)
   PUBMED   9685386
REFERENCE   9  (residues 1 to 221)
  AUTHORS   Nayler O, Stratling W, Bourquin JP, Stagljar I, Lindemann L, Jasper
            H, Hartmann AM, Fackelmayer FO, Ullrich A and Stamm S.
  TITLE     SAF-B protein couples transcription and pre-mRNA splicing to
            SAR/MAR elements
  JOURNAL   Nucleic Acids Res 26 (15), 3542-3549 (1998)
   PUBMED   9671816
REFERENCE   10 (residues 1 to 221)
  AUTHORS   Screaton GR, Caceres JF, Mayeda A, Bell MV, Plebanski M, Jackson
            DG, Bell JI and Krainer AR.
  TITLE     Identification and characterization of three members of the human
            SR family of pre-mRNA splicing factors
  JOURNAL   EMBO J 14 (17), 4336-4349 (1995)
   PUBMED   7556075
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU786332.1, U30825.1 and
            AI005398.1.
            
            Summary: The protein encoded by this gene is a member of the
            serine/arginine (SR)-rich family of pre-mRNA splicing factors,
            which constitute part of the spliceosome. Each of these factors
            contains an RNA recognition motif (RRM) for binding RNA and an RS
            domain for binding other proteins. The RS domain is rich in serine
            and arginine residues and facilitates interaction between different
            SR splicing factors. In addition to being critical for mRNA
            splicing, the SR proteins have also been shown to be involved in
            mRNA export from the nucleus and in translation. Two pseudogenes,
            one on chromosome 15 and the other on chromosome 21, have been
            found for this gene. [provided by RefSeq, Sep 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.125813.1,
                                           SRR1163655.38947.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000229390.8/ ENSP00000229390.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..221
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     Protein         1..221
                     /product="serine/arginine-rich splicing factor 9"
                     /note="splicing factor, arginine/serine-rich 9; SR
                     splicing factor 9; pre-mRNA-splicing factor SRp30C"
                     /calculated_mol_wt=25411
     Region          15..86
                     /region_name="RRM1_SRSF9"
                     /note="RNA recognition motif 1 (RRM1) found in vertebrate
                     serine/arginine-rich splicing factor 9 (SRSF9); cd12598"
                     /db_xref="CDD:241042"
     Region          104..186
                     /region_name="RRM2_SRSF9"
                     /note="RNA recognition motif 2 (RRM2) found in vertebrate
                     serine/arginine-rich splicing factor 9 (SRSF9); cd12768"
                     /db_xref="CDD:410161"
     Region          188..200
                     /region_name="Interaction with SAFB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13242.1)"
     Region          189..221
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13242.1)"
     Site            189
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q13242.1)"
     Site            192
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q13242.1)"
     Site            193
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q13242.1)"
     Site            195
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q13242.1)"
     Site            204
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q13242.1)"
     Site            208
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q13242.1)"
     Site            211
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19367720, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13242.1)"
     Site            214
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13242.1)"
     Site            216
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13242.1)"
     CDS             1..221
                     /gene="SRSF9"
                     /gene_synonym="SFRS9; SRp30c"
                     /coded_by="NM_003769.3:140..805"
                     /db_xref="CCDS:CCDS9199.1"
                     /db_xref="GeneID:8683"
                     /db_xref="HGNC:HGNC:10791"
                     /db_xref="MIM:601943"
ORIGIN      
        1 msgwadergg egdgriyvgn lptdvrekdl edlfykygri reielknrhg lvpfafvrfe
       61 dprdaedaiy grngydygqc rlrvefprty ggrggwprgg rngpptrrsd frvlvsglpp
      121 sgswqdlkdh mreagdvcya dvqkdgvgmv eylrkedmey alrklddtkf rshegetsyi
      181 rvyperstsy gysrsrsgsr grdspyqsrg sphyfspfrp y
//
LOCUS       XP_016884386             587 aa            linear   PRI 20-MAR-2023
DEFINITION  ran GTPase-activating protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_016884386
VERSION     XP_016884386.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017028897.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..587
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..587
                     /product="ran GTPase-activating protein 1 isoform X3"
                     /calculated_mol_wt=63411
     Region          21..358
                     /region_name="LRR_RI"
                     /note="Leucine-rich repeats (LRRs), ribonuclease inhibitor
                     (RI)-like subfamily. LRRs are 20-29 residue sequence
                     motifs present in many proteins that participate in
                     protein-protein interactions and have different functions
                     and cellular locations. LRRs correspond...; cd00116"
                     /db_xref="CDD:238064"
     Site            order(23,25,28,30,51,54,56,59,61,79,82,84,87,89,114,117,
                     119,122,124,144,147,149,152,154,182,185,187,190,192,210,
                     213,215,218,220,238,241,243,246,248,266,269,271,274,276,
                     295,298,300,303,305,323,326,328,331,333,351,354,356)
                     /site_type="active"
                     /note="Leucine-rich repeats [active]"
                     /db_xref="CDD:238064"
     Region          51..81
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Site            order(57..58,121,189,217,273,299,301,327,355)
                     /site_type="other"
                     /note="Substrate binding site [chemical binding]"
                     /db_xref="CDD:238064"
     Region          82..113
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          114..143
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          144..171
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          182..209
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          210..237
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          238..265
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          266..294
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          405..585
                     /region_name="RanGAP1_C"
                     /note="RanGAP1 C-terminal domain; pfam07834"
                     /db_xref="CDD:429686"
     CDS             1..587
                     /gene="RANGAP1"
                     /gene_synonym="Fug1; RANGAP; SD"
                     /coded_by="XM_017028897.2:1035..2798"
                     /db_xref="GeneID:5905"
                     /db_xref="HGNC:HGNC:9854"
                     /db_xref="MIM:602362"
ORIGIN      
        1 masediakla etlaktqvag gqlsfkgksl klntaedakd vikeiedfds lealrlegnt
       61 vgveaarvia kalekkselk rchwsdmftg rlrteippal islgeglita gaqlveldls
      121 dnafgpdgvq gfeallkssa cftlqelkln ncgmgigggk ilaaaltech rkssaqgkpl
      181 alkvfvagrn rlendgatal aeafrvigtl eevhmpqngi nhpgitalaq afavnpllrv
      241 inlndntfte kgavamaetl ktlrqvevin fgdclvrskg avaiadairg glpklkelnl
      301 sfceikrdaa lavaeamadk aelekldlng ntlgeegceq lqevlegfnm akvlaslsdd
      361 edeeeeeege eeeeeaeeee eedeeeeeee eeeeeeepqq rgqgeksatp srkildpntg
      421 epapvlsspp padvstflaf pspekllrlg pkssvliaqq tdtsdpekvv saflkvssvf
      481 kdeatvrmav qdavdalmqk afnsssfnsn tfltrllvhm gllksedkvk aianlygplm
      541 alnhmvqqdy fpkalaplll afvtkpnsal escsfarhsl lqtlykv
//
LOCUS       XP_016864473             686 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription elongation regulator 1 isoform X5 [Homo sapiens].
ACCESSION   XP_016864473
VERSION     XP_016864473.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017008984.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..686
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..686
                     /product="transcription elongation regulator 1 isoform X5"
                     /calculated_mol_wt=74127
     Region          136..>173
                     /region_name="PRP40"
                     /note="Splicing factor [RNA processing and modification];
                     COG5104"
                     /db_xref="CDD:227435"
     Region          <258..434
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     Region          421..>621
                     /region_name="PRP40"
                     /note="Splicing factor [RNA processing and modification];
                     COG5104"
                     /db_xref="CDD:227435"
     CDS             1..686
                     /gene="TCERG1"
                     /gene_synonym="CA150; TAF2S; Urn1"
                     /coded_by="XM_017008984.2:21..2081"
                     /db_xref="GeneID:10915"
                     /db_xref="HGNC:HGNC:15630"
                     /db_xref="MIM:605409"
ORIGIN      
        1 maerggdgge serfnpgelr maqqqalrfr gpapppnavm rgppplmrpp ppfgmmrgpp
       61 ppprppfgrp pfdpnmppmp ppggipppmg pphlqrppfm pppmssmppp pgmmfppgmp
      121 pvtapgtpal ppteeiwven ktpdgkvyyy nartresawt kpdgvkviqq seltpmlaaq
      181 aqvqaqaqaq aqaqaqaqaq aqaqaqaqaq aqaqaqaqaq aqaqaqaqaq aqaqaqaqaq
      241 aqvqaqvqaq vqaqavgast pttsspapav ststssstps sttsttttat svaqtvstpt
      301 tqdqtpssav svatptvsvs tpaptatpvq tvpqphpqtl ppavphsvpq pttaipafpp
      361 vmvppfrvpl pgmpiplpgv ammqivscpy vktvattktg vlpgmappiv pmihpqvaia
      421 aspatlagat avsewteykt adgktyyynn rtlestwekp qelkekekle ekikepikep
      481 seeplpmete eedpkeepik eikeepkeee mteeekaaqk akpvatapip gtpwcvvwtg
      541 dervffynpt trlsmwdrpd dligradvdk iiqepphkkg meelkklrhp tptmlsiqkw
      601 qfsmsaikee qelmeeined epvkakkrkr mskksfmwia raslfrsqti slsscrsrtm
      661 ssisfdslpk llstshlhlw vslssi
//
LOCUS       XP_016869722            1297 aa            linear   PRI 20-MAR-2023
DEFINITION  A disintegrin and metalloproteinase with thrombospondin motifs 13
            isoform X3 [Homo sapiens].
ACCESSION   XP_016869722
VERSION     XP_016869722.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014233.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1297
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1297
                     /product="A disintegrin and metalloproteinase with
                     thrombospondin motifs 13 isoform X3"
                     /calculated_mol_wt=139185
     Region          <1..153
                     /region_name="ZnMc"
                     /note="Zinc-dependent metalloprotease. This super-family
                     of metalloproteases contains two major branches, the
                     astacin-like proteases and the adamalysin/reprolysin-like
                     proteases. Both branches have wide phylogenetic
                     distribution, and contain sub-families, which...; cl00064"
                     /db_xref="CDD:444678"
     Site            order(94..95,98,104)
                     /site_type="active"
                     /db_xref="CDD:238124"
     Region          171..241
                     /region_name="ADAM_CR_2"
                     /note="ADAM cysteine-rich domain; pfam17771"
                     /db_xref="CDD:436031"
     Region          257..309
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          311..425
                     /region_name="ADAM_CR_3"
                     /note="ADAM cysteine-rich domain; pfam19236"
                     /db_xref="CDD:437068"
     Region          427..550
                     /region_name="ADAM_spacer1"
                     /note="ADAM-TS Spacer 1; pfam05986"
                     /db_xref="CDD:428708"
     Region          616..674
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          772..821
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          832..882
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          886..942
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          946..1000
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     CDS             1..1297
                     /gene="ADAMTS13"
                     /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP;
                     VWFCP"
                     /coded_by="XM_017014233.2:477..4370"
                     /db_xref="GeneID:11093"
                     /db_xref="HGNC:HGNC:1366"
                     /db_xref="MIM:604134"
ORIGIN      
        1 mviltepega pnitanltss llsvcgwsqt inpeddtdpg hadlvlyitr fdlelpdgnr
       61 qvrgvtqlgg acsptwscli tedtgfdlgv tiaheighsf glehdgapgs gcgpsghvma
      121 sdgaapragl awspcsrrql lsllsagrar cvwdpprpqp gsaghppdaq pglyysaneq
      181 crvafgpkav actfarehld mcqalschtd pldqsscsrl lvplldgtec gvekwcskgr
      241 crslveltpi aavhgrwssw gprspcsrsc gggvvtrrrq cnnprpafgg racvgadlqa
      301 emcntqacek tqlefmsqqc artdgqplrs spggasfyhw gaavphsqgd alcrhmcrai
      361 gesfimkrgd sfldgtrcmp sgpredgtls lcvsgscrtf gcdgrmdsqq vwdrcqvcgg
      421 dnstcsprkg sftagrarey vtfltvtpnl tsvyianhrp lfthlavrig gryvvagkms
      481 ispnttypsl ledgrveyrv altedrlprl eeiriwgplq edadiqvyrr ygeeygnltr
      541 pditftyfqp kprqawvwaa vrgpcsvscg aglrwvnysc ldqarkelve tvqcqgsqqp
      601 pawpeacvle pcppywavgd fgpcsascgg glrerpvrcv eaqgsllktl pparcragaq
      661 qpavaletcn pqpcparwev sepssctsag gaglalenet cvpgadglea pvtegpgsvd
      721 eklpapepcv gmscppgwgh ldatsageka pspwgsirtg aqaahvwtpa agscsvscgr
      781 glmelrflcm dsalrvpvqe elcglaskpg srrevcqavp cparwqykla acsvscgrgv
      841 vrrilycara hgeddgeeil ldtqcqglpr pepqeacsle pcpprwkvms lgpcsascgl
      901 gtarrsvacv qldqgqdvev deaacaalvr peasvpclia dctyrwhvgt wmecsvscgd
      961 giqrrrdtcl gpqaqapvpa dfcqhlpkpv tvrgcwagpc vgqgtpslvp heeaaapgrt
     1021 tatpagasle wsqargllfs papqprrllp gpqensvqss acgrqhlept gtidmrgpgq
     1081 adcavaigrp lgevvtlrvl esslncsagd mlllwgrltw rkmcrklldm tfssktntlv
     1141 vrqrcgrpgg gvllrygsql apetfyrecd mqlfgpwgei vspslspats naggcrlfin
     1201 vaphariaih alatnmgagt eganasyili rdthslrtta fhgqqvlywe sessqaemef
     1261 segflkaqas lrgqywtlqs wvpemqdpqs wkgkegt
//
LOCUS       XP_054186938             770 aa            linear   PRI 20-MAR-2023
DEFINITION  CCR4-NOT transcription complex subunit 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054186938
VERSION     XP_054186938.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330963.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571058.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..770
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..770
                     /product="CCR4-NOT transcription complex subunit 3 isoform
                     X2"
                     /calculated_mol_wt=83555
     CDS             1..770
                     /gene="CNOT3"
                     /gene_synonym="IDDSADF; LENG2; NOT3; NOT3H"
                     /coded_by="XM_054330963.1:3235..5547"
                     /db_xref="GeneID:4849"
                     /db_xref="HGNC:HGNC:7879"
                     /db_xref="MIM:604910"
ORIGIN      
        1 madkrklqge idrclkkvse gveqfediwq klhnaananq kekyeadlkk eikklqrlrd
       61 qiktwvasne ikdkrqlidn rklietqmer fkvveretkt kayskeglgl aqkvdpaqke
      121 keevgqwltn tidtlnmqvd qfesevesls vqtrkkkgdk dkqdrieglk rhiekhryhv
      181 rmletilrml dndsilvdai rkikddveyy vdssqdpdfe eneflyddld ledipqalva
      241 tsppshshme deifnqssst ptsttssspi ppspanctte nseddkkrgr stdsevsqsp
      301 akngskpvhs nqhpqspavp ptypsgpppa asalsttpgn ngvpapaapp salgpkaspa
      361 pshnsgtpap yaqavappap sgpsttqprp psvqpsgggg ggsggggsss ssnssaggga
      421 gkqngatsys svvadspaev alsssggnna ssqalgppsg phnpppstsk epsaaaptga
      481 ggvapgsgnn sggpsllvpl pvnppssptp sfsdakaaga llngppqfst apeikapepl
      541 sslksmaera aissgiedpv ptlhlterdi ilsstsappa saqpplqlse vniplslgvc
      601 plgpvpltke qlyqqameea awhhmphpsd serirqylpr npcptppyhh qmppphsdtv
      661 efyqrlstet lffifyyleg tkaqylaaka lkkqswrfht kymmwfqrhe epktitdefe
      721 qipdhllvhs ltafspgqgt yiyfdyekwg qrkkegftfe yryledrdlq
//
LOCUS       XP_054169588             818 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleotide-binding oligomerization domain-containing protein 2
            isoform X3 [Homo sapiens].
ACCESSION   XP_054169588
VERSION     XP_054169588.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313613.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..818
                     /product="nucleotide-binding oligomerization
                     domain-containing protein 2 isoform X3"
                     /calculated_mol_wt=90263
     CDS             1..818
                     /gene="NOD2"
                     /gene_synonym="ACUG; BLAU; BLAUS; CARD15; CD; CLR16.3;
                     IBD1; NLRC2; NOD2B; PSORAS1; YAOS"
                     /coded_by="XM_054313613.1:78..2534"
                     /db_xref="GeneID:64127"
                     /db_xref="HGNC:HGNC:5331"
                     /db_xref="MIM:605956"
ORIGIN      
        1 maklrttvsa qsrflstydg aetlclediy tenvlevwad vgmagppqks patlgleelf
       61 stpghlndda dtvlvvgeag sgkstllqrl hllwaagqdf qeflfvfpfs crqlqcmakp
      121 lsvrtllfeh ccwpdvgqed ifqllldhpd rvlltfdgfd efkfrftdre rhcsptdpts
      181 vqtllfnllq gnllknarkv vtsrpaavsa flrkyirtef nlkgfseqgi elylrkrhhe
      241 pgvadrlirl lqetsalhgl chlpvfswmv skchqelllq eggspktttd myllilqhfl
      301 lhatppdsas qglgpsllrg rlptllhlgr lalwglgmcc yvfsaqqlqa aqvspddisl
      361 gflvrakgvv pgstaplefl hitfqcffaa fylalsadvp pallrhlfnc grpgnspmar
      421 llptmciqas egkdssvaal lqkaephnlq itaaflagll srehwgllae cqtsekallr
      481 rqacarwcla rslrkhfhsi ppaapgeaks vhampgfiwl irslyemqee rlarkaargl
      541 nvghlkltfc svgptecaal afvlqhlrrp valqldynsv gdigveqllp clgvckalyl
      601 rdnnisdrgi ckliecalhc eqlqklalfn nkltdgcahs makllacrqn flalrlgnny
      661 itaagaqvla eglrgntslq flgfwgnrvg degaqalaea lgdhqslrwl slvgnnigsv
      721 gaqalalmla knvmleelcl eenhlqdegv cslaeglkkn sslkilklsn ncitylgaea
      781 llqalerndt ilevwlrgnt fsleevdklg crdtrlll
//
LOCUS       XP_054179388             858 aa            linear   PRI 20-MAR-2023
DEFINITION  potassium voltage-gated channel subfamily B member 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_054179388
VERSION     XP_054179388.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323413.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..858
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..858
                     /product="potassium voltage-gated channel subfamily B
                     member 1 isoform X1"
                     /calculated_mol_wt=95747
     CDS             1..858
                     /gene="KCNB1"
                     /gene_synonym="DEE26; DRK1; Kv2.1"
                     /coded_by="XM_054323413.1:259..2835"
                     /db_xref="GeneID:3745"
                     /db_xref="HGNC:HGNC:6231"
                     /db_xref="MIM:600397"
ORIGIN      
        1 mpagmtkhgs rstsslppep meivrskacs rrvrlnvggl ahevlwrtld rlprtrlgkl
       61 rdcnthdsll evcddysldd neyffdrhpg aftsilnfyr tgrlhmmeem calsfsqeld
      121 ywgideiyle sccqaryhqk keqmneelkr eaetlrereg eefdntccae krkklwdlle
      181 kpnssvaaki laiisimfiv lstialslnt lpelqsldef gqstdnpqla hveavciawf
      241 tmeyllrfls spkkwkffkg plnaidllai lpyyvtiflt esnksvlqfq nvrrvvqifr
      301 imrilrilkl arhstglqsl gftlrrsyne lgllilflam gimifsslvf faekdeddtk
      361 fksipasfww atitmttvgy gdiypktllg kivgglccia gvlvialpip iivnnfsefy
      421 keqkrqekai krrealerak rngsivsmnm kdafarsiem mdivveknge nmgkkdkvqd
      481 nhlspnkwkw tkrtlsetss sksfetkeqg spekarssss pqhlnvqqle dmynkmaktq
      541 sqpilntkes aaqskpkeel emesipspva plptrtegvi dmrsmssids fiscatdfpe
      601 atrfshsplt slpsktggst apevgwrgal gasggrfvea npspdasqhs sffiespkss
      661 mktnnplklr alkvnfmegd pspllpvlgm yhdplrnrgs aaaavaglec atlldkavls
      721 pessiyttas aktpprspek htaiafnfea gvhqyidadt ddegqllysv dssppkslpg
      781 stspkfstgt rseknhfess plptspkflr qnciysteal tgkgpsgqek cklenhispd
      841 vrvlpgggah gstrdqsi
//
LOCUS       XP_054181958             579 aa            linear   PRI 20-MAR-2023
DEFINITION  synapsin-3 isoform X2 [Homo sapiens].
ACCESSION   XP_054181958
VERSION     XP_054181958.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325983.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..579
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..579
                     /product="synapsin-3 isoform X2"
                     /calculated_mol_wt=63085
     CDS             1..579
                     /gene="SYN3"
                     /coded_by="XM_054325983.1:1008..2747"
                     /db_xref="GeneID:8224"
                     /db_xref="HGNC:HGNC:11496"
                     /db_xref="MIM:602705"
ORIGIN      
        1 mnflrrrlsd ssfmanlpng ymtdlqrpds stsspaspam errhpqplaa sfsspgsslf
       61 sslssamkqa pqatsglmep pgpstpivqr prillvidda htdwskyfhg kkvngeieir
      121 veqaefseln laayvtggcm vdmqvvrngt kvvrsfkpdf ilvrqhaysm algedyrslv
      181 iglqygglpa vnslysvynf cskpwvfsql ikifhslgpe kfplveqtff pnhkpmvtap
      241 hfpvvvklgh ahagmgkikv enqldfqdit svvamaktya tteafidsky diriqkigsn
      301 ykaymrtsis gnwkantgsa mleqvamter yrlwvdscse mfggldicav kavhskdgrd
      361 yiievmdssm pligehveed rqlmadlvvs kmsqlpmpgg tapsplrpwa pqiksakspg
      421 qaqlgpqlgq pqprpppqgg prqaqspqpq rsgspsqqrl spqgqqplsp qsgspqqqrs
      481 pgspqlsras sgsspnqask pgatlasqpr ppvqgrstsq qgeeskkpap phphlnksqs
      541 ltnslstsdt sqrgtpsede akaetirnlr ksfaslfsd
//
LOCUS       NP_001275517             979 aa            linear   PRI 20-APR-2022
DEFINITION  zinc finger protein 280D isoform 1 [Homo sapiens].
ACCESSION   NP_001275517 XP_005254539
VERSION     NP_001275517.1
DBSOURCE    REFSEQ: accession NM_001288588.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 979)
  AUTHORS   Buonincontri R, Bache I, Silahtaroglu A, Elbro C, Nielsen AM,
            Ullmann R, Arkesteijn G and Tommerup N.
  TITLE     A cohort of balanced reciprocal translocations associated with
            dyslexia: identification of two putative candidate genes at DYX1
  JOURNAL   Behav Genet 41 (1), 125-133 (2011)
   PUBMED   20798984
  REMARK    GeneRIF: As a first exploitation of this unique cohort, we identify
            three novel candidate dyslexia genes, ZNF280D and TCF12 at 15q21,
            and PDE7B at 6q23.3, by molecular mapping of the familial
            translocation with the 15q21 breakpoint.
REFERENCE   2  (residues 1 to 979)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC136412.1, AC090518.2 and BC040532.1.
            On Dec 21, 2013 this sequence version replaced XP_005254539.1.
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. Variants 1 and 4 encode the same protein (isoform 1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC136412.1, SRR14038194.842239.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..979
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     Protein         1..979
                     /product="zinc finger protein 280D isoform 1"
                     /note="zinc finger protein 634; suppressor of hairy wing
                     homolog 4"
                     /calculated_mol_wt=109154
     Region          45..229
                     /region_name="DUF4195"
                     /note="Domain of unknown function (DUF4195); pfam13836"
                     /db_xref="CDD:433515"
     Region          89..119
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6N043.3)"
     Site            104
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q6N043.3)"
     Region          157..236
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6N043.3)"
     Region          360..381
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(365,367,369,371..372,375..376,380,395,397,401..402,
                     405..406,409,425,427,429,431..432,435..436,439)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          390..411
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          420..439
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          523..608
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6N043.3)"
     Site            545
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q6N043.3)"
     Region          739..809
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6N043.3)"
     Region          896..979
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6N043.3)"
     Site            908
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FE8; propagated from
                     UniProtKB/Swiss-Prot (Q6N043.3)"
     Site            911
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FE8; propagated from
                     UniProtKB/Swiss-Prot (Q6N043.3)"
     CDS             1..979
                     /gene="ZNF280D"
                     /gene_synonym="SUHW4; ZNF634"
                     /coded_by="NM_001288588.2:131..3070"
                     /note="isoform 1 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS32245.1"
                     /db_xref="GeneID:54816"
                     /db_xref="HGNC:HGNC:25953"
ORIGIN      
        1 mgdnpfqpks nskmaelfme ceeeelepwq kkvkeveddd ddepifvgei ssskpaisni
       61 lnrvnpssys rglkngalsr gitaafkpts qhytnptsnp vpaspinfhp esrssdssvi
      121 vqpfskpgyi tnssrvvsnk ssellfdltq dtglshyqgg ptlsmagmse ssflskrpst
      181 sevnnvnpkk pkpsesvsga nssavlpsvk spsvtssqam lakgtntssn qskngtpfpr
      241 acpkcnihfn lldplknhmk yccpdminnf lglaktefss tvnknttids ekgklimlvn
      301 dfyygkhegd vqeeqkthtt fkcfsclkil knnirfmnhm khhlelekqs seswenhttc
      361 qhcyrqfptp fqlqchiest htphefstic kicelsfete hvllqhmkdn hkpgempyvc
      421 qvcnyrsssf sdvethfrts hentknllcp fclkvikiat pymhhymkhq kkgihrctkc
      481 rlqfltckek mdhktqhhrt fikpkqlegl ppgtkvtira svgplqsgas ptpsisasas
      541 tlqlspprtk nitaknpaks ntskpntvks naskpntskp ngskskykpk isnmqkkqst
      601 lassnkkskv ntalrnlryr rgihkciecc seikdfanhf ptyvhcsfcr yntscskayv
      661 nhmmsfhsnr pskrfcifkk hsenlrgitl vclncdflsd vsgldnmath lsqhkthtcq
      721 vvmqkvsvci ptsehlselk keapakeqep vskeiarpnm aeretetsns eskqdkaass
      781 kekngcnans fegssttkse esitvsdken etcladqetg sknivscdsn igadkvekkk
      841 qiqhvcqeme lkmcqsseni ilsdqikdhn ssearfsskn ikdlrlasdn vsidqflrkr
      901 hepesvssdv seqgsihlep ltpsevleye ateilqkgsg dpsaktdevv sdqtddipgg
      961 nnpstteatv dledekers
//
LOCUS       NP_001149                729 aa            linear   PRI 17-DEC-2022
DEFINITION  retina-specific copper amine oxidase isoform a precursor [Homo
            sapiens].
ACCESSION   NP_001149
VERSION     NP_001149.2
DBSOURCE    REFSEQ: accession NM_001158.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 729)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 729)
  AUTHORS   Carpene C, Les F, Hasnaoui M, Biron S, Marceau P, Richard D,
            Galitzky J, Joanisse DR and Mauriege P.
  TITLE     Anatomical distribution of primary amine oxidase activity in four
            adipose depots and plasma of severely obese women with or without a
            dysmetabolic profile
  JOURNAL   J Physiol Biochem 73 (3), 475-486 (2016)
   PUBMED   27766585
  REMARK    GeneRIF: Adipose tissue SSAO activity did not vary according to
            anatomical location and/or metabolic status in severely obese
            women.
            Erratum:[J Physiol Biochem. 2017 Oct 5;:. PMID: 28983875]
REFERENCE   3  (residues 1 to 729)
  AUTHORS   Schwelberger HG.
  TITLE     Structural organization of mammalian copper-containing amine
            oxidase genes
  JOURNAL   Inflamm Res 59 Suppl 2, S223-S225 (2010)
   PUBMED   20013028
REFERENCE   4  (residues 1 to 729)
  AUTHORS   Kaitaniemi S, Elovaara H, Gron K, Kidron H, Liukkonen J, Salminen
            T, Salmi M, Jalkanen S and Elima K.
  TITLE     The unique substrate specificity of human AOC2, a
            semicarbazide-sensitive amine oxidase
  JOURNAL   Cell Mol Life Sci 66 (16), 2743-2757 (2009)
   PUBMED   19588076
  REMARK    GeneRIF: AOC2 mRNA is expressed in many tissues, however, the only
            tissues with detectable AOC2-like enzyme activity is found in the
            eye.
REFERENCE   5  (residues 1 to 729)
  AUTHORS   Roni V, Carpio R and Wissinger B.
  TITLE     Mapping of transcription start sites of human retina expressed
            genes
  JOURNAL   BMC Genomics 8, 42 (2007)
   PUBMED   17286855
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 729)
  AUTHORS   Zhang Q, Mashima Y, Noda S, Imamura Y, Kudoh J, Shimizu N,
            Nishiyama T, Umeda S, Oguchi Y, Tanaka Y and Iwata T.
  TITLE     Characterization of AOC2 gene encoding a copper-binding amine
            oxidase expressed specifically in retina
  JOURNAL   Gene 318, 45-53 (2003)
   PUBMED   14585497
REFERENCE   7  (residues 1 to 729)
  AUTHORS   Imamura Y, Noda S, Mashima Y, Kudoh J, Oguchi Y and Shimizu N.
  TITLE     Human retina-specific amine oxidase: genomic structure of the gene
            (AOC2), alternatively spliced variant, and mRNA expression in
            retina
  JOURNAL   Genomics 51 (2), 293-298 (1998)
   PUBMED   9722954
REFERENCE   8  (residues 1 to 729)
  AUTHORS   Imamura Y, Kubota R, Wang Y, Asakawa S, Kudoh J, Mashima Y, Oguchi
            Y and Shimizu N.
  TITLE     Human retina-specific amine oxidase (RAO): cDNA cloning, tissue
            expression, and chromosomal mapping
  JOURNAL   Genomics 40 (2), 277-283 (1997)
   PUBMED   9119395
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016889.28, DQ426861.1,
            CN355968.1, D88213.1, AF081363.1 and CA427935.1.
            On Mar 4, 2005 this sequence version replaced NP_001149.1.
            
            Summary: Copper amine oxidases catalyze the oxidative conversion of
            amines to aldehydes and ammonia in the presence of copper and
            quinone cofactor. This gene shows high sequence similarity to
            copper amine oxidases from various species ranging from bacteria to
            mammals. The protein contains several conserved motifs including
            the active site of amine oxidases and the histidine residues that
            likely bind copper. It may be a critical modulator of signal
            transmission in retina, possibly by degrading the biogenic amines
            dopamine, histamine, and putrescine. This gene may be a candidate
            gene for hereditary ocular diseases. Alternate splicing results in
            multiple transcript variants. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) uses an alternate in-frame
            splice site in the coding region, compared to variant 2. It encodes
            isoform a which is shorter than isoform b.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.30470.1, D88213.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..729
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..729
                     /product="retina-specific copper amine oxidase isoform a
                     precursor"
                     /EC_number="1.4.3.21"
                     /note="retina-specific copper amine oxidase;
                     semicarbazide-sensitive amine oxidase; amine oxidase,
                     copper containing 2 (retina-specific)"
                     /calculated_mol_wt=78235
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2299
     Region          62..148
                     /region_name="Cu_amine_oxidN2"
                     /note="Copper amine oxidase, N2 domain; pfam02727"
                     /db_xref="CDD:397027"
     Region          165..263
                     /region_name="Cu_amine_oxidN3"
                     /note="Copper amine oxidase, N3 domain; pfam02728"
                     /db_xref="CDD:426941"
     Region          307..686
                     /region_name="Cu_amine_oxid"
                     /note="Copper amine oxidase, enzyme domain; pfam01179"
                     /db_xref="CDD:426102"
     CDS             1..729
                     /gene="AOC2"
                     /gene_synonym="DAO2; RAO; SSAO"
                     /coded_by="NM_001158.5:48..2237"
                     /note="isoform a precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS45690.1"
                     /db_xref="GeneID:314"
                     /db_xref="HGNC:HGNC:549"
                     /db_xref="MIM:602268"
ORIGIN      
        1 mhlkivlafl alslitifal ayvlltspgg ssqpphcpsv shraqpwphp gqsqlfadls
       61 reeltavmrf ltqrlgpglv daaqaqpsdn cifsvelqlp pkaaalahld rgsppparea
      121 laivlfggqp qpnvselvvg plphpsymrd vtverhggpl pyhrrpvlra eftqmwrhlk
      181 evelpkapif lsstfnyngs tlaavhatpr glrsgdratw malyhnisgv glflhpvgle
      241 llldhraldp ahwtvqqvfy lghyyadlgq lerefksgrl evvrvplppp ngasslrsrn
      301 spgplpplqf spqgsqysvq gnlvvsslws ftfghgvfsg lrifdvrfqg eriayevsvq
      361 ecvsiygads pktmltryld ssfglgrnsr glvrgvdcpy qatmvdihil vgkgavqllp
      421 gavcvfeeaq glplrrhhny lqnhfyggla ssalvvrsvs svgnydyiwd fvlypngale
      481 grvhatgyin taflkggeeg llfgnrvger vlgtvhthaf hfkldldvag lknwvvaedv
      541 vfkpvaapwn pehwlqrpql trqvlgkedl tafslgsplp rylylasnqt nawghqrgyq
      601 lvvtqrkeee sqsssiyhqn diwtptvtfa dfinnetllg edlvawvtas flhiphaedi
      661 pntvtlgnrv gfllrpynff dedpsifspg svyfekgqda glcsinpvac lpdlaacvpd
      721 lppfsyhgf
//
LOCUS       NP_076422                235 aa            linear   PRI 18-DEC-2022
DEFINITION  adenine nucleotide translocase lysine N-methyltransferase isoform 1
            [Homo sapiens].
ACCESSION   NP_076422
VERSION     NP_076422.1
DBSOURCE    REFSEQ: accession NM_023933.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 235)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 235)
  AUTHORS   Malecki JM, Willemen HLDM, Pinto R, Ho AYY, Moen A, Eijkelkamp N
            and Falnes PO.
  TITLE     Human FAM173A is a mitochondrial lysine-specific methyltransferase
            that targets adenine nucleotide translocase and affects
            mitochondrial respiration
  JOURNAL   J Biol Chem 294 (31), 11654-11664 (2019)
   PUBMED   31213526
  REMARK    GeneRIF: FAM173A is the long-sought mitochondrial lysine-specific
            methyltransferase responsible for adenine nucleotide translocase
            methylation at Lys-52, and point out the functional significance of
            Lys-52 methylation in adenine nucleotide translocase.
REFERENCE   3  (residues 1 to 235)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   4  (residues 1 to 235)
  AUTHORS   Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C,
            Kearney L, Buckle VJ, Doggett NA, Flint J and Higgs DR.
  TITLE     Sequence, structure and pathology of the fully annotated terminal 2
            Mb of the short arm of human chromosome 16
  JOURNAL   Hum Mol Genet 10 (4), 339-352 (2001)
   PUBMED   11157797
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI597021.1, BC002624.2 and AI492179.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer protein (isoform 1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC001181.1, BU632070.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000569529.6/ ENSP00000454380.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..235
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..235
                     /product="adenine nucleotide translocase lysine
                     N-methyltransferase isoform 1"
                     /note="protein FAM173A; protein N-lysine methyltransferase
                     FAM173A; family with sequence similarity 173 member A;
                     adenine nucleotide translocase lysine N-methyltransferase"
                     /calculated_mol_wt=24999
     Region          1..22
                     /region_name="N-terminal sequence (NTS).
                     /evidence=ECO:0000303|PubMed:31213526"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQD7.1)"
     Site            20..42
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQD7.1)"
     Region          43..77
                     /region_name="Methyltransferase (MTase).
                     /evidence=ECO:0000303|PubMed:31213526"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQD7.1)"
     Region          43..77
                     /region_name="Pre-methyltransferase (preMT).
                     /evidence=ECO:0000303|PubMed:31213526"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQD7.1)"
     Region          <65..>123
                     /region_name="HemK"
                     /note="Methylase of polypeptide chain release factors
                     [Translation, ribosomal structure and biogenesis];
                     COG2890"
                     /db_xref="CDD:225443"
     Region          215..235
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQD7.1)"
     CDS             1..235
                     /gene="ANTKMT"
                     /gene_synonym="ANT-KMT; C16orf24; FAM173A"
                     /coded_by="NM_023933.3:130..837"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS10423.1"
                     /db_xref="GeneID:65990"
                     /db_xref="HGNC:HGNC:14152"
                     /db_xref="MIM:618566"
ORIGIN      
        1 meqddpveal telrerrlga lellqaaags glaayavwal llqpgfrrvp lrlqvpyvga
       61 sarqvehvls llrgrpgktv dlgsgdgriv laahrcglrp avgyelnpwl valarlhawr
      121 agcagsvcyr rkdlwkvslr dcrnvsvfla psvlplledk lrtelpagar vvsgrfplpt
      181 wqpvtavgeg ldrvwaydvp eggqageaas sripiqaapg pssapipggl isqas
//
LOCUS       NP_001164977             146 aa            linear   PRI 23-DEC-2022
DEFINITION  multiple coagulation factor deficiency protein 2 isoform A
            precursor [Homo sapiens].
ACCESSION   NP_001164977
VERSION     NP_001164977.1
DBSOURCE    REFSEQ: accession NM_001171506.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 146)
  AUTHORS   Zhang Y, Zhu M, Zheng C, Wei W, Emmer BT and Zhang B.
  TITLE     LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi transport
            of alpha1-antitrypsin
  JOURNAL   Biochem J 479 (7), 839-855 (2022)
   PUBMED   35322856
  REMARK    GeneRIF: LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi
            transport of alpha1-antitrypsin.
REFERENCE   2  (residues 1 to 146)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 146)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 146)
  AUTHORS   Fukamachi M, Kasamatsu A, Endo-Sakamoto Y, Fushimi K, Kasama H,
            Iyoda M, Minakawa Y, Shiiba M, Tanzawa H and Uzawa K.
  TITLE     Multiple coagulation factor deficiency protein 2 as a crucial
            component in metastasis of human oral cancer
  JOURNAL   Exp Cell Res 368 (1), 119-125 (2018)
   PUBMED   29679592
  REMARK    GeneRIF: that Multiple coagulation factor deficiency protein 2
            promotes cancer metastasis by regulating lectin mannose binding 1
            and level of galactoside-binding soluble 3 binding protein
            expression levels
REFERENCE   5  (residues 1 to 146)
  AUTHORS   Guy JE, Wigren E, Svard M, Hard T and Lindqvist Y.
  TITLE     New insights into multiple coagulation factor deficiency from the
            solution structure of human MCFD2
  JOURNAL   J Mol Biol 381 (4), 941-955 (2008)
   PUBMED   18590741
  REMARK    GeneRIF: These results provide an explanation for the previously
            observed calcium dependence of the MCFD2-ERGIC-53 interaction.
REFERENCE   6  (residues 1 to 146)
  AUTHORS   Mohanty D, Ghosh K, Shetty S, Spreafico M, Garagiola I and Peyvandi
            F.
  TITLE     Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene
            in Indian families with combined deficiency of factor V and VIII
  JOURNAL   Am J Hematol 79 (4), 262-266 (2005)
   PUBMED   16044454
  REMARK    GeneRIF: Mutations in (LMAN1) and (MCFD2), have been found to be
            responsible for the dual deficiency of FV and FVIII.
REFERENCE   7  (residues 1 to 146)
  AUTHORS   Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe
            SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White
            GC, Tuddenham EG, Kaufman RJ and Ginsburg D.
  TITLE     Bleeding due to disruption of a cargo-specific ER-to-Golgi
            transport complex
  JOURNAL   Nat Genet 34 (2), 220-225 (2003)
   PUBMED   12717434
  REMARK    GeneRIF: inactivating mutations in MCFD2 cause combined deficiency
            of factor V and factor VIII with a phenotype indistinguishable from
            that caused by mutations in LMAN1
REFERENCE   8  (residues 1 to 146)
  AUTHORS   Nichols WC, Terry VH, Wheatley MA, Yang A, Zivelin A, Ciavarella N,
            Stefanile C, Matsushita T, Saito H, de Bosch NB, Ruiz-Saez A,
            Torres A, Thompson AR, Feinstein DI, White GC, Negrier C,
            Vinciguerra C, Aktan M, Kaufman RJ, Ginsburg D and Seligsohn U.
  TITLE     ERGIC-53 gene structure and mutation analysis in 19 combined
            factors V and VIII deficiency families
  JOURNAL   Blood 93 (7), 2261-2266 (1999)
   PUBMED   10090935
REFERENCE   9  (residues 1 to 146)
  AUTHORS   Neerman-Arbez M, Johnson KM, Morris MA, McVey JH, Peyvandi F,
            Nichols WC, Ginsburg D, Rossier C, Antonarakis SE and Tuddenham EG.
  TITLE     Molecular analysis of the ERGIC-53 gene in 35 families with
            combined factor V-factor VIII deficiency
  JOURNAL   Blood 93 (7), 2253-2260 (1999)
   PUBMED   10090934
REFERENCE   10 (residues 1 to 146)
  AUTHORS   Deka N, Wong E, Matera AG, Kraft R, Leinwand LA and Schmid CW.
  TITLE     Repetitive nucleotide sequence insertions into a novel
            calmodulin-related gene and its processed pseudogene
  JOURNAL   Gene 71 (1), 123-134 (1988)
   PUBMED   2463956
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA324623.1, DA330030.1,
            CF994192.1, AF537214.1 and AI371370.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a soluble luminal protein with two
            calmodulin-like EF-hand motifs at its C-terminus. This protein
            forms a complex with LMAN1 (lectin mannose binding protein 1; also
            known as ERGIC-53) that facilitates the transport of coagulation
            factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to
            the Golgi apparatus via an endoplasmic reticulum Golgi intermediate
            compartment (ERGIC). Mutations in this gene cause combined
            deficiency of FV and FVIII (F5F8D); a rare autosomal recessive
            bleeding disorder characterized by mild to moderate bleeding and
            coordinate reduction in plasma FV and FVIII levels. This protein
            has also been shown to maintain stem cell potential in adult
            central nervous system and is a marker for testicular germ cell
            tumors. The 3' UTR of this gene contains a transposon-like human
            repeat element named 'THE 1'. A processed RNA pseudogene of this
            gene is on chromosome 6p22.1. Alternative splicing results in
            multiple transcript variants encoding distinct isoforms. [provided
            by RefSeq, Apr 2016].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1, 2, 3 and 4 encode the same
            isoform (A).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.118096.1,
                                           SRR1660803.241586.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..146
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     Protein         1..146
                     /product="multiple coagulation factor deficiency protein 2
                     isoform A precursor"
                     /note="neural stem cell-derived neuronal survival protein"
                     /calculated_mol_wt=13525
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2884
     Region          77..143
                     /region_name="EF-hand_7"
                     /note="EF-hand domain pair; pfam13499"
                     /db_xref="CDD:433258"
     Site            106
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K5B3; propagated from
                     UniProtKB/Swiss-Prot (Q8NI22.1)"
     CDS             1..146
                     /gene="MCFD2"
                     /gene_synonym="F5F8D; F5F8D2; LMAN1IP; SDNSF"
                     /coded_by="NM_001171506.2:247..687"
                     /note="isoform A precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS33192.1"
                     /db_xref="GeneID:90411"
                     /db_xref="HGNC:HGNC:18451"
                     /db_xref="MIM:607788"
ORIGIN      
        1 mtmrsllrtp flcgllwafc apgaraeepa asfsqpgsmg ldkntvhdqe himehlegvi
       61 nkpeaemspq elqlhyfkmh dydgnnlldg lelstaithv hkeegseqap lmsedelini
      121 idgvlrdddk nndgyidyae fakslq
//
LOCUS       NP_653217                331 aa            linear   PRI 24-DEC-2022
DEFINITION  junctional sarcoplasmic reticulum protein 1 [Homo sapiens].
ACCESSION   NP_653217
VERSION     NP_653217.1
DBSOURCE    REFSEQ: accession NM_144616.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 331)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 331)
  AUTHORS   Yasuda T, Delbono O, Wang ZM, Messi ML, Girard T, Urwyler A, Treves
            S and Zorzato F.
  TITLE     JP-45/JSRP1 variants affect skeletal muscle excitation-contraction
            coupling by decreasing the sensitivity of the dihydropyridine
            receptor
  JOURNAL   Hum Mutat 34 (1), 184-190 (2013)
   PUBMED   22927026
  REMARK    GeneRIF: Data indicate that the presence of either one of these
            JP-45 variants decreased the sensitivity of the dihydropyridine
            receptor DHPR to activation.
REFERENCE   3  (residues 1 to 331)
  AUTHORS   Newby PR, Pickles OJ, Mazumdar S, Brand OJ, Carr-Smith JD, Pearce
            SH, Franklyn JA, Evans DM, Simmonds MJ and Gough SC.
  CONSRTM   Wellcome Trust Case-Control Consortium (WTCCC)
  TITLE     Follow-up of potential novel Graves' disease susceptibility loci,
            identified in the UK WTCCC genome-wide nonsynonymous SNP study
  JOURNAL   Eur J Hum Genet 18 (9), 1021-1026 (2010)
   PUBMED   20442750
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 331)
  AUTHORS   Gouadon E, Schuhmeier RP, Ursu D, Anderson AA, Treves S, Zorzato F,
            Lehmann-Horn F and Melzer W.
  TITLE     A possible role of the junctional face protein JP-45 in modulating
            Ca2+ release in skeletal muscle
  JOURNAL   J Physiol 572 (Pt 1), 269-280 (2006)
   PUBMED   16423849
  REMARK    GeneRIF: The results may be explained by a modulatory effect of
            JP-45 related to its reported in vitro interaction with the
            dihydropyridine receptor and the SR Ca(2+) binding protein
            calsequestrin (CSQ).
REFERENCE   5  (residues 1 to 331)
  AUTHORS   Anderson AA, Treves S, Biral D, Betto R, Sandona D, Ronjat M and
            Zorzato F.
  TITLE     The novel skeletal muscle sarcoplasmic reticulum JP-45 protein.
            Molecular cloning, tissue distribution, developmental expression,
            and interaction with alpha 1.1 subunit of the voltage-gated calcium
            channel
  JOURNAL   J Biol Chem 278 (41), 39987-39992 (2003)
   PUBMED   12871958
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA897543.1, DA898560.1,
            AK056978.1 and AW137573.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is involved in
            excitation-contraction coupling at the sarcoplasmic reticulum. The
            encoded protein can interact with CACNA1S, CACNB1, and
            calsequestrin to help regulate calcium influx and efflux in
            skeletal muscle. [provided by RefSeq, Jul 2012].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056978.1, SRR1163658.99742.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000300961.10/ ENSP00000300961.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..331
                     /product="junctional sarcoplasmic reticulum protein 1"
                     /note="2310032K21Rik; homolog of mouse skeletal muscle
                     sarcoplasmic reticulum protein JP-45; junctional-face
                     membrane protein of 45 kDa homolog"
                     /calculated_mol_wt=36188
     Region          1..118
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MG2.1)"
     Region          3..76
                     /region_name="Mediates interaction with CACNA1S.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MG2.1)"
     Region          115..177
                     /region_name="JSRP"
                     /note="Junctional sarcoplasmic reticulum protein;
                     pfam15312"
                     /db_xref="CDD:434622"
     Region          157..331
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MG2.1)"
     Region          <199..>323
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     CDS             1..331
                     /gene="JSRP1"
                     /gene_synonym="JP-45; JP45"
                     /coded_by="NM_144616.4:66..1061"
                     /db_xref="CCDS:CCDS12086.1"
                     /db_xref="GeneID:126306"
                     /db_xref="HGNC:HGNC:24963"
                     /db_xref="MIM:608743"
ORIGIN      
        1 msmttrawee ldgglgscqa ledhsalaet qedrasatpr ladsgsvphd sqvaegpsvd
       61 trpkkmekep aargtpgtgk erlkagaspr svparkkaqt applqppppp palseelpwg
      121 dlslnkclvl aslvallgsa fqlcrdavpg eaalqarvpe pwvppssapr epssplpkfe
      181 aqappsappa praeaevrpk ipgsreaaen deeepgeatg eavredrvtl adrgpkerpr
      241 regkprkekp rkeerpkker prkeerpraa reprealpqr wesregghrp wardsrdaep
      301 rkkqawvspr rpdeeqrpgs rqklragkgr d
//
LOCUS       NP_001287792             152 aa            linear   PRI 25-DEC-2022
DEFINITION  testis-expressed protein 38 isoform 2 [Homo sapiens].
ACCESSION   NP_001287792 XP_006710691
VERSION     NP_001287792.1
DBSOURCE    REFSEQ: accession NM_001300863.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 152)
  AUTHORS   Orvedahl A, Sumpter R Jr, Xiao G, Ng A, Zou Z, Tang Y, Narimatsu M,
            Gilpin C, Sun Q, Roth M, Forst CV, Wrana JL, Zhang YE, Luby-Phelps
            K, Xavier RJ, Xie Y and Levine B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC067853.1, BC144026.1 and AI828862.1.
            On Jul 15, 2014 this sequence version replaced XP_006710691.1.
            
            Transcript Variant: This variant (2) lacks a portion of the 5'
            coding region and initiates translation at a downstream in-frame
            start codon, compared to variant 1. The encoded isoform (2) has a
            shorter N-terminus than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.343818.1,
                                           SRR5189667.113744.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..152
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p33"
     Protein         1..152
                     /product="testis-expressed protein 38 isoform 2"
                     /note="testis highly expressed protein 4; ATPAF1 antisense
                     gene protein 1; testis-expressed sequence 38 protein;
                     testis-expressed protein 38; ATPAF1 antisense RNA 1"
                     /calculated_mol_wt=16772
     Region          <1..151
                     /region_name="THEG4"
                     /note="Testis highly expressed protein 4; pfam15834"
                     /db_xref="CDD:434968"
     CDS             1..152
                     /gene="TEX38"
                     /gene_synonym="ATPAF1-AS1; C1orf223; THEG4"
                     /coded_by="NM_001300863.2:165..623"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS72780.1"
                     /db_xref="GeneID:374973"
                     /db_xref="HGNC:HGNC:29589"
ORIGIN      
        1 mraatftysp llywinkrrr ygmnaaintg papavtktet evqnpdvlwd ldipegrsha
       61 dqdsnpkaea paplqpalql apqqpqarsp fplpifqevp fapplcnlpp llnhsvsypl
      121 atcpernvlf hsllnlaqed hsfnakpfps el
//
LOCUS       NP_001340597             396 aa            linear   PRI 26-DEC-2022
DEFINITION  WD repeat-containing protein 20 isoform 20 [Homo sapiens].
ACCESSION   NP_001340597
VERSION     NP_001340597.1
DBSOURCE    REFSEQ: accession NM_001353668.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 396)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 396)
  AUTHORS   Olazabal-Herrero A, Sendino M, Arganda-Carreras I and Rodriguez JA.
  TITLE     WDR20 regulates shuttling of the USP12 deubiquitinase complex
            between the plasma membrane, cytoplasm and nucleus
  JOURNAL   Eur J Cell Biol 98 (1), 12-26 (2019)
   PUBMED   30466959
  REMARK    GeneRIF: WDR20 plays a crucial role in as a 'targeting subunit'
            that modulates CRM1-dependent shuttling of the USP12/UAF1/WDR20
            complex between the plasma membrane, cytoplasm and nucleus.
REFERENCE   3  (residues 1 to 396)
  AUTHORS   Ju LG, Lin X, Yan D, Li QL, Wu M and Li LY.
  TITLE     Characterization of WDR20: A new regulator of the ERAD machinery
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1865 (7), 970-980 (2018)
   PUBMED   29655804
  REMARK    GeneRIF: Results identified WDR20 as an important adaptor protein
            involved in ERAD system by promoting protein ubiquitination.
REFERENCE   4  (residues 1 to 396)
  AUTHORS   Li H, Lim KS, Kim H, Hinds TR, Jo U, Mao H, Weller CE, Sun J,
            Chatterjee C, D'Andrea AD and Zheng N.
  TITLE     Allosteric Activation of Ubiquitin-Specific Proteases by
            beta-Propeller Proteins UAF1 and WDR20
  JOURNAL   Mol Cell 63 (2), 249-260 (2016)
   PUBMED   27373336
  REMARK    GeneRIF: UAF1 and WDR20 interact with USP12 at two distinct sites
            far from its catalytic center, allosterically activating the
            enzyme.
REFERENCE   5  (residues 1 to 396)
  AUTHORS   Takahashi M, Tsukamoto Y, Kai T, Tokunaga A, Nakada C, Hijiya N,
            Uchida T, Daa T, Nomura T, Sato F, Mimata H, Matsuura K and
            Moriyama M.
  TITLE     Downregulation of WDR20 due to loss of 14q is involved in the
            malignant transformation of clear cell renal cell carcinoma
  JOURNAL   Cancer Sci 107 (4), 417-423 (2016)
   PUBMED   26790128
  REMARK    GeneRIF: our data suggest that downregulation of WDR20 due to 14q
            loss may be involved in the malignant transformation of ccRCCs, in
            part through activation of the ERK and protein kinase B/AKT
            pathways
REFERENCE   6  (residues 1 to 396)
  AUTHORS   Grossmann A, Benlasfer N, Birth P, Hegele A, Wachsmuth F, Apelt L
            and Stelzl U.
  TITLE     Phospho-tyrosine dependent protein-protein interaction network
  JOURNAL   Mol Syst Biol 11 (3), 794 (2015)
   PUBMED   25814554
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 396)
  AUTHORS   Dahlberg CL and Juo P.
  TITLE     The WD40-repeat proteins WDR-20 and WDR-48 bind and activate the
            deubiquitinating enzyme USP-46 to promote the abundance of the
            glutamate receptor GLR-1 in the ventral nerve cord of
            Caenorhabditis elegans
  JOURNAL   J Biol Chem 289 (6), 3444-3456 (2014)
   PUBMED   24356955
REFERENCE   8  (residues 1 to 396)
  AUTHORS   Kee Y, Yang K, Cohn MA, Haas W, Gygi SP and D'Andrea AD.
  TITLE     WDR20 regulates activity of the USP12 x UAF1 deubiquitinating
            enzyme complex
  JOURNAL   J Biol Chem 285 (15), 11252-11257 (2010)
   PUBMED   20147737
  REMARK    GeneRIF: WDR20 serves as a stimulatory subunit for preserving and
            regulating the activity of the subset of the UAF1 x USP12 complexes
REFERENCE   9  (residues 1 to 396)
  AUTHORS   Sowa ME, Bennett EJ, Gygi SP and Harper JW.
  TITLE     Defining the human deubiquitinating enzyme interaction landscape
  JOURNAL   Cell 138 (2), 389-403 (2009)
   PUBMED   19615732
REFERENCE   10 (residues 1 to 396)
  AUTHORS   Smith TF.
  TITLE     Diversity of WD-repeat proteins
  JOURNAL   Subcell Biochem 48, 20-30 (2008)
   PUBMED   18925368
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133223.5 and AL359402.3.
            
            Summary: This gene encodes a WD repeat-containing protein that
            functions to preserve and regulate the activity of the USP12-UAF1
            deubiquitinating enzyme complex. Multiple alternatively spliced
            transcript variants have been found for this gene. [provided by
            RefSeq, Jun 2011].
            
            Transcript Variant: This variant (24), as well as variants 25-30,
            encodes isoform 20.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138512.528212.1,
                                           SRR1803611.209589.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..396
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.31"
     Protein         1..396
                     /product="WD repeat-containing protein 20 isoform 20"
                     /note="WD repeat-containing protein 20"
                     /calculated_mol_wt=43418
     Region          <29..>141
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          50..86
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          93..126
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..396
                     /gene="WDR20"
                     /gene_synonym="Bun107; DMR"
                     /coded_by="NM_001353668.2:578..1768"
                     /note="isoform 20 is encoded by transcript variant 24"
                     /db_xref="GeneID:91833"
                     /db_xref="HGNC:HGNC:19667"
                     /db_xref="MIM:617741"
ORIGIN      
        1 mylynvehtc gttaphyqll kqgesfavht ckskstrnpl lkwtvgegal nefafspdgk
       61 flacvsqdgf lrvfnfdsve lhgtmksyfg gllcvcwspd gkyivtgged dlvtvwsfvd
      121 crviarghgh kswvsvvafd pyttsveegd pmefsgsded fqdllhfgrd ranstqsrls
      181 krnstdsrpv svtyrfgsvg qdtqlclwdl tedilfphqp lsrarthtnv mnatsppags
      241 ngnsvttpgn svppplprsn slphsavsna gskssvmdga iasgvskfat lslhdrkerh
      301 hekdhkrnhs mghisskssd klnlvtktkt dpaktlgtpl cprmedvpll eplickkiah
      361 erltvlifle dcivtacqeg fictwgrpgk vvsfnp
//
LOCUS       NP_001155032            1352 aa            linear   PRI 27-DEC-2022
DEFINITION  TRAF2 and NCK-interacting protein kinase isoform 2 [Homo sapiens].
ACCESSION   NP_001155032
VERSION     NP_001155032.1
DBSOURCE    REFSEQ: accession NM_001161560.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1352)
  AUTHORS   Xu Q, Li Y, Li M, Qin S, Ning A, Yuan R, Fu Y, Wang D, Zhang R,
            Zeng D, Yu W, Li H and Yu S.
  TITLE     The influence of TNIK gene polymorphisms on risperidone response in
            a Chinese Han population
  JOURNAL   Pharmacogenomics 23 (10), 575-583 (2022)
   PUBMED   35698907
  REMARK    GeneRIF: The influence of TNIK gene polymorphisms on risperidone
            response in a Chinese Han population.
REFERENCE   2  (residues 1 to 1352)
  AUTHORS   Yuan R, Li Y, Fu Y, Ning A, Wang D, Zhang R, Yu S and Xu Q.
  TITLE     TNIK influence the effects of antipsychotics on Wnt/beta-catenin
            signaling pathway
  JOURNAL   Psychopharmacology (Berl) 238 (11), 3283-3292 (2021)
   PUBMED   34350475
  REMARK    GeneRIF: TNIK influence the effects of antipsychotics on
            Wnt/beta-catenin signaling pathway.
REFERENCE   3  (residues 1 to 1352)
  AUTHORS   Nie FY, Zhang MR, Shang SS, Zhang QX, Zhang R, Chen P and Ma J.
  TITLE     Methylome-wide association study of first-episode schizophrenia
            reveals a hypermethylated CpG site in the promoter region of the
            TNIK susceptibility gene
  JOURNAL   Prog Neuropsychopharmacol Biol Psychiatry 106, 110081 (2021)
   PUBMED   32853717
  REMARK    GeneRIF: Methylome-wide association study of first-episode
            schizophrenia reveals a hypermethylated CpG site in the promoter
            region of the TNIK susceptibility gene.
REFERENCE   4  (residues 1 to 1352)
  AUTHORS   Takahashi C, Kondo S, Sadaoka K, Ishizuka S, Noguchi K, Kato Y and
            Sugimoto Y.
  TITLE     Effect of TNIK upregulation on JQ1-resistant human colorectal
            cancer HCT116 cells
  JOURNAL   Biochem Biophys Res Commun 530 (1), 230-234 (2020)
   PUBMED   32828291
  REMARK    GeneRIF: Effect of TNIK upregulation on JQ1-resistant human
            colorectal cancer HCT116 cells.
REFERENCE   5  (residues 1 to 1352)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   6  (residues 1 to 1352)
  AUTHORS   Nonaka H, Takei K, Umikawa M, Oshiro M, Kuninaka K, Bayarjargal M,
            Asato T, Yamashiro Y, Uechi Y, Endo S, Suzuki T and Kariya KI.
  TITLE     MINK is a Rap2 effector for phosphorylation of the postsynaptic
            scaffold protein TANC1
  JOURNAL   Biochem Biophys Res Commun 377 (2), 573-578 (2008)
   PUBMED   18930710
REFERENCE   7  (residues 1 to 1352)
  AUTHORS   Camargo LM, Collura V, Rain JC, Mizuguchi K, Hermjakob H, Kerrien
            S, Bonnert TP, Whiting PJ and Brandon NJ.
  TITLE     Disrupted in Schizophrenia 1 Interactome: evidence for the close
            connectivity of risk genes and a potential synaptic basis for
            schizophrenia
  JOURNAL   Mol Psychiatry 12 (1), 74-86 (2007)
   PUBMED   17043677
REFERENCE   8  (residues 1 to 1352)
  AUTHORS   Taira K, Umikawa M, Takei K, Myagmar BE, Shinzato M, Machida N,
            Uezato H, Nonaka S and Kariya K.
  TITLE     The Traf2- and Nck-interacting kinase as a putative effector of
            Rap2 to regulate actin cytoskeleton
  JOURNAL   J Biol Chem 279 (47), 49488-49496 (2004)
   PUBMED   15342639
  REMARK    GeneRIF: TNIK is a specific effector of Rap2 to regulate actin
            cytoskeleton
REFERENCE   9  (residues 1 to 1352)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N,
            Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar
            M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   10 (residues 1 to 1352)
  AUTHORS   Fu CA, Shen M, Huang BC, Lasaga J, Payan DG and Luo Y.
  TITLE     TNIK, a novel member of the germinal center kinase family that
            activates the c-Jun N-terminal kinase pathway and regulates the
            cytoskeleton
  JOURNAL   J Biol Chem 274 (43), 30729-30737 (1999)
   PUBMED   10521462
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092919.5, AC078793.13,
            AC137517.6 and AC026315.15.
            
            Summary: Wnt signaling plays important roles in carcinogenesis and
            embryonic development. The protein encoded by this gene is a
            serine/threonine kinase that functions as an activator of the Wnt
            signaling pathway. Mutations in this gene are associated with an
            autosomal recessive form of cognitive disability. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Jul 2017].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            middle portion of the coding region compared to variant 1. This
            results in a shorter protein (isoform 2) compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.82542.1,
                                           SRR1803614.161903.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1352
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.2-q26.31"
     Protein         1..1352
                     /product="TRAF2 and NCK-interacting protein kinase isoform
                     2"
                     /EC_number="2.7.11.1"
                     /note="TRAF2 and NCK-interacting protein kinase"
                     /calculated_mol_wt=153878
     Region          18..313
                     /region_name="STKc_TNIK"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Traf2- and Nck-Interacting Kinase; cd06637"
                     /db_xref="CDD:270807"
     Site            order(31..35,39,52,54,83,105..108,111..112,115,153,
                     155..158,160,170..171,174,188..191,193,225,234)
                     /site_type="active"
                     /db_xref="CDD:270807"
     Site            order(31..35,39,52,54,83,105..108,111..112,115,157..158,
                     160,171)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270807"
     Site            order(34..35,153,155..157,174,188..191,193,225,234)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270807"
     Site            170..193
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270807"
     Site            187
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P83510; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Region          284..347
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            324
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P83510; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            326
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Region          398..440
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Region          539..589
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            560
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            570
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            581
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P83510; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            600
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            608
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            610
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            640
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            678
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            680
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            688
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            701
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            707
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            720
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            764
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            766
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            769
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:18088087, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Region          806..870
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Region          900..919
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Region          925..990
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Site            951
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKE5.1)"
     Region          1034..1332
                     /region_name="CNH"
                     /note="Domain found in NIK1-like kinases, mouse citron and
                     yeast ROM1, ROM2; smart00036"
                     /db_xref="CDD:214481"
     CDS             1..1352
                     /gene="TNIK"
                     /gene_synonym="MRT54"
                     /coded_by="NM_001161560.3:343..4401"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS54679.1"
                     /db_xref="GeneID:23043"
                     /db_xref="HGNC:HGNC:30765"
                     /db_xref="MIM:610005"
ORIGIN      
        1 masdsparsl deidlsalrd pagifelvel vgngtygqvy kgrhvktgql aaikvmdvtg
       61 deeeeikqei nmlkkyshhr niatyygafi kknppgmddq lwlvmefcga gsvtdliknt
      121 kgntlkeewi ayicreilrg lshlhqhkvi hrdikgqnvl ltenaevklv dfgvsaqldr
      181 tvgrrntfig tpywmapevi acdenpdaty dfksdlwslg itaiemaega pplcdmhpmr
      241 alfliprnpa prlkskkwsk kfqsfiescl vknhsqrpat eqlmkhpfir dqpnerqvri
      301 qlkdhidrtk kkrgekdete yeysgseeee eendsgepss ilnlpgestl rrdflrlqla
      361 nkersealrr qqleqqqren eehkrqllae rqkrieeqke qrrrleeqqr rekelrkqqe
      421 reqrrhyeeq mrreeerrra eheqeyirrq leeeqrqlei lqqqllheqa llleykrkql
      481 eeqrqaerlq rqlkqerdyl vslqhqrqeq rpvekkplyh ykegmspsek pawakeveer
      541 srlnrqsspa mphkvanris dpnlpprses fsisgvqpar tppmlrpvdp qiphlvavks
      601 qgpaltasqs vheqptkgls gfqealnvts hrvemprqns dptsenpplp triekfdrss
      661 wlrqeedipp kvpqrttsis palarknspg ngsalgprlg sqpirasnpd lrrtepiles
      721 plqrtssgss sssstpssqp ssqggsqpgs qagssertrv ransksegsp vlphepakvk
      781 peesrditrp srpadltala kelrelriee tnrpmkkvtd ysssseeses seeeeedges
      841 ethdgtvavs diprliptga pgsneqynvg mvgthglets hadsfsgsis regtlmiret
      901 sgekkrsghs dsngfaghin lpdlvqqshs pagtpteglg rvsthsqemd sgteygmgss
      961 tkasftpfvd prvyqtsptd edeedeessa aalftsellr qeqaklnear kisvvnvnpt
     1021 nirphsdtpe irkykkrfns eilcaalwgv nllvgtengl mlldrsgqgk vynlinrrrf
     1081 qqmdvlegln vlvtisgkkn klrvyylswl rnrilhndpe vekkqgwitv gdlegcihyk
     1141 vvkyerikfl vialknavei yawapkpyhk fmafksfadl qhkpllvdlt veegqrlkvi
     1201 fgshtgfhvi dvdsgnsydi yipshiqgni tphaivilpk tdgmemlvcy edegvyvnty
     1261 gritkdvvlq wgemptsvay ihsnqimgwg ekaieirsve tghldgvfmh kraqrlkflc
     1321 erndkvffas vrsggssqvf fmtlnrnsmm nw
//
LOCUS       NP_671716                411 aa            linear   PRI 27-DEC-2022
DEFINITION  tumor necrosis factor receptor superfamily member 10B isoform 2
            precursor [Homo sapiens].
ACCESSION   NP_671716
VERSION     NP_671716.2
DBSOURCE    REFSEQ: accession NM_147187.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 411)
  AUTHORS   Woo SM, Kim S, Seo SU, Kim S, Park JW, Kim G, Choi YR, Hur K and
            Kwon TK.
  TITLE     Inhibition of USP1 enhances anticancer drugs-induced cancer cell
            death through downregulation of survivin and miR-216a-5p-mediated
            upregulation of DR5
  JOURNAL   Cell Death Dis 13 (9), 821 (2022)
   PUBMED   36153316
  REMARK    GeneRIF: Inhibition of USP1 enhances anticancer drugs-induced
            cancer cell death through downregulation of survivin and
            miR-216a-5p-mediated upregulation of DR5.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 411)
  AUTHORS   Mora-Molina R and Lopez-Rivas A.
  TITLE     Restoring TRAILR2/DR5-Mediated Activation of Apoptosis upon
            Endoplasmic Reticulum Stress as a Therapeutic Strategy in Cancer
  JOURNAL   Int J Mol Sci 23 (16), 8987 (2022)
   PUBMED   36012252
  REMARK    GeneRIF: Restoring TRAILR2/DR5-Mediated Activation of Apoptosis
            upon Endoplasmic Reticulum Stress as a Therapeutic Strategy in
            Cancer.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 411)
  AUTHORS   Qin J, Wang H, Lyu Z, Liao Y, Zeng N, Wang K, Zhou Y, Zeng Z, Liao
            Z, Cao Y, He J, Wang T and Wen F.
  TITLE     Elevated soluble death receptor 5 can predict poor prognosis in
            patients with acute respiratory distress syndrome
  JOURNAL   Expert Rev Respir Med 16 (7), 823-832 (2022)
   PUBMED   35822538
  REMARK    GeneRIF: Elevated soluble death receptor 5 can predict poor
            prognosis in patients with acute respiratory distress syndrome.
REFERENCE   4  (residues 1 to 411)
  AUTHORS   Park KM, Park JY, Pyo J, Lee SY and Kim HS.
  TITLE     Induction of DR5-Dependent Apoptosis by PGA2 through ATF4-CHOP
            Pathway
  JOURNAL   Molecules 27 (12), 3804 (2022)
   PUBMED   35744931
  REMARK    GeneRIF: Induction of DR5-Dependent Apoptosis by PGA2 through
            ATF4-CHOP Pathway.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 411)
  AUTHORS   Soto-Gamez A, Wang Y, Zhou X, Seras L, Quax W and Demaria M.
  TITLE     Enhanced extrinsic apoptosis of therapy-induced senescent cancer
            cells using a death receptor 5 (DR5) selective agonist
  JOURNAL   Cancer Lett 525, 67-75 (2022)
   PUBMED   34728311
  REMARK    GeneRIF: Enhanced extrinsic apoptosis of therapy-induced senescent
            cancer cells using a death receptor 5 (DR5) selective agonist.
REFERENCE   6  (residues 1 to 411)
  AUTHORS   Walczak H, Degli-Esposti MA, Johnson RS, Smolak PJ, Waugh JY,
            Boiani N, Timour MS, Gerhart MJ, Schooley KA, Smith CA, Goodwin RG
            and Rauch CT.
  TITLE     TRAIL-R2: a novel apoptosis-mediating receptor for TRAIL
  JOURNAL   EMBO J 16 (17), 5386-5397 (1997)
   PUBMED   9311998
REFERENCE   7  (residues 1 to 411)
  AUTHORS   Screaton GR, Mongkolsapaya J, Xu XN, Cowper AE, McMichael AJ and
            Bell JI.
  TITLE     TRICK2, a new alternatively spliced receptor that transduces the
            cytotoxic signal from TRAIL
  JOURNAL   Curr Biol 7 (9), 693-696 (1997)
   PUBMED   9285725
REFERENCE   8  (residues 1 to 411)
  AUTHORS   Sheridan JP, Marsters SA, Pitti RM, Gurney A, Skubatch M, Baldwin
            D, Ramakrishnan L, Gray CL, Baker K, Wood WI, Goddard AD, Godowski
            P and Ashkenazi A.
  TITLE     Control of TRAIL-induced apoptosis by a family of signaling and
            decoy receptors
  JOURNAL   Science 277 (5327), 818-821 (1997)
   PUBMED   9242611
REFERENCE   9  (residues 1 to 411)
  AUTHORS   Pan G, Ni J, Wei YF, Yu G, Gentz R and Dixit VM.
  TITLE     An antagonist decoy receptor and a death domain-containing receptor
            for TRAIL
  JOURNAL   Science 277 (5327), 815-818 (1997)
   PUBMED   9242610
REFERENCE   10 (residues 1 to 411)
  AUTHORS   Wiley SR, Schooley K, Smolak PJ, Din WS, Huang CP, Nicholl JK,
            Sutherland GR, Smith TD, Rauch C, Smith CA et al.
  TITLE     Identification and characterization of a new member of the TNF
            family that induces apoptosis
  JOURNAL   Immunity 3 (6), 673-682 (1995)
   PUBMED   8777713
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Raymond Dalgleish. The reference sequence was
            derived from DA738472.1, DA889488.1, BC001281.1, AF192548.1 and
            AC107959.8.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 4, 2009 this sequence version replaced NP_671716.1.
            
            Summary: The protein encoded by this gene is a member of the
            TNF-receptor superfamily, and contains an intracellular death
            domain. This receptor can be activated by tumor necrosis
            factor-related apoptosis inducing ligand (TNFSF10/TRAIL/APO-2L),
            and transduces an apoptosis signal. Studies with FADD-deficient
            mice suggested that FADD, a death domain containing adaptor
            protein, is required for the apoptosis mediated by this protein.
            Two transcript variants encoding different isoforms and one
            non-coding transcript have been found for this gene. [provided by
            RefSeq, Mar 2009].
            
            Transcript Variant: This variant (2) lacks an in-frame coding
            segment compared to variant 1. The resulting isoform (2) lacks an
            internal region, as compared to isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1376170.1,
                                           SRR1803614.78005.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149398 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..411
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     Protein         1..411
                     /product="tumor necrosis factor receptor superfamily
                     member 10B isoform 2 precursor"
                     /note="death receptor 5; apoptosis inducing receptor
                     TRAIL-R2; apoptosis inducing protein TRICK2A/2B; tumor
                     necrosis factor receptor-like protein ZTNFR9; death domain
                     containing receptor for TRAIL/Apo-2L; cytotoxic TRAIL
                     receptor-2; p53-regulated DNA damage-inducible cell death
                     receptor(killer); Fas-like protein; TNF-related
                     apoptosis-inducing ligand receptor 2; tumor necrosis
                     factor receptor superfamily, member 10b; tumor necrosis
                     factor receptor superfamily member 10B"
                     /calculated_mol_wt=39436
     sig_peptide     1..55
                     /calculated_mol_wt=5666
     mat_peptide     56..411
                     /product="tumor necrosis factor receptor superfamily
                     member 10B isoform 2"
                     /calculated_mol_wt=39436
     Region          77..179
                     /region_name="TNFRSF10"
                     /note="Tumor necrosis factor receptor superfamily member
                     10 (TNFRSF10), includes TNFRSF10A (DR4), TNFRSF10B (DR5),
                     TNFRSF10C (DcR1) and TNFRSF10D (DcR2); cd10580"
                     /db_xref="CDD:276906"
     Region          77..94
                     /region_name="CRD1"
                     /note="CRD1 [structural motif]"
                     /db_xref="CDD:276906"
     Site            order(78..80,87,89,106..107,109..112,114..115,154,175)
                     /site_type="other"
                     /note="Antibody binding [polypeptide binding]"
                     /db_xref="CDD:276906"
     Region          97..137
                     /region_name="CRD2"
                     /note="CRD2 [structural motif]"
                     /db_xref="CDD:276906"
     Site            order(112,115,120,151..155)
                     /site_type="other"
                     /note="polypeptide ligand binding site [polypeptide
                     binding]"
                     /db_xref="CDD:276906"
     Region          139..178
                     /region_name="CRD3"
                     /note="CRD3 [structural motif]"
                     /db_xref="CDD:276906"
     Region          312..399
                     /region_name="Death_TRAILR_DR4_DR5"
                     /note="Death domain of Tumor necrosis factor-Related
                     Apoptosis-Inducing Ligand Receptors; cd08315"
                     /db_xref="CDD:260027"
     CDS             1..411
                     /gene="TNFRSF10B"
                     /gene_synonym="CD262; DR5; KILLER; KILLER/DR5; TRAIL-R2;
                     TRAILR2; TRICK2; TRICK2A; TRICK2B; TRICKB; ZTNFR9"
                     /coded_by="NM_147187.3:138..1373"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS6036.1"
                     /db_xref="GeneID:8795"
                     /db_xref="HGNC:HGNC:11905"
                     /db_xref="MIM:603612"
ORIGIN      
        1 meqrgqnapa asgarkrhgp gpreargarp gprvpktlvl vvaavlllvs aesalitqqd
       61 lapqqraapq qkrsspsegl cppghhised grdcisckyg qdysthwndl lfclrctrcd
      121 sgevelspct ttrntvcqce egtfreedsp emcrkcrtgc prgmvkvgdc tpwsdiecvh
      181 kesgiiigvt vaavvlivav fvcksllwkk vlpylkgics ggggdpervd rssqrpgaed
      241 nvlneivsil qptqvpeqem evqepaeptg vnmlspgese hllepaeaer sqrrrllvpa
      301 negdptetlr qcfddfadlv pfdsweplmr klglmdneik vakaeaaghr dtlytmlikw
      361 vnktgrdasv htlldaletl gerlakqkie dhllssgkfm ylegnadsam s
//
LOCUS       NP_001135997             547 aa            linear   PRI 27-DEC-2022
DEFINITION  G protein-coupled receptor associated sorting protein 3 [Homo
            sapiens].
ACCESSION   NP_001135997
VERSION     NP_001135997.1
DBSOURCE    REFSEQ: accession NM_001142525.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 547)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 547)
  AUTHORS   Kutzner A and Heese K.
  TITLE     Glutamate E15 and E171 are Hotspots in p60TRP-Related Cancer
  JOURNAL   Cancer Invest 34 (2), 64-69 (2016)
   PUBMED   26854063
  REMARK    GeneRIF: Report that some regions of p60TRP were more prone to
            specific mutations, with two hotspots for mutations at E15 and
            E171.
REFERENCE   3  (residues 1 to 547)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   4  (residues 1 to 547)
  AUTHORS   Winter EE and Ponting CP.
  TITLE     Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism
            sustained by gene conversion events
  JOURNAL   BMC Evol Biol 5, 54 (2005)
   PUBMED   16221301
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 547)
  AUTHORS   Heese K, Yamada T, Akatsu H, Yamamoto T, Kosaka K, Nagai Y and
            Sawada T.
  TITLE     Characterizing the new transcription regulator protein p60TRP
  JOURNAL   J Cell Biochem 91 (5), 1030-1042 (2004)
   PUBMED   15034937
  REMARK    GeneRIF: Down-regulation in the brain of Alzheimer's disease
            subjects point to a possible pivotal role of p60TRP in the control
            of cellular aging and survival.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA397309.1, AB051488.1,
            BC041409.2 and AL035427.17.
            
            Summary: This gene is a member of a gene family which encodes
            proteins with a basic helix-loop-helix domain. Other members of
            this gene family encode proteins which function as transcription
            factors, either enhancing or inhibiting transcription depending on
            the activity of other DNA binding proteins. The coding region of
            this gene is located entirely within the terminal exon. The encoded
            protein may be involved in the survival of neurons (PMID:
            15034937). Multiple alternatively spliced variants, encoding the
            same protein, have been identified. [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1. Variants 1-8 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.110179.1,
                                           SRR1803615.204394.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..547
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     Protein         1..547
                     /product="G protein-coupled receptor associated sorting
                     protein 3"
                     /note="protein BHLHB9; p60-like protein; transcription
                     regulator of 60 kDa; basic helix-loop-helix domain
                     containing, class B, 9;
                     p60-transcription-regulator-protein; basic
                     helix-loop-helix family member b9"
                     /calculated_mol_wt=60160
     Region          1..32
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PI77.1)"
     Region          80..102
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PI77.1)"
     Region          320..541
                     /region_name="Arm_2"
                     /note="Armadillo-like; pfam04826"
                     /db_xref="CDD:428145"
     CDS             1..547
                     /gene="GPRASP3"
                     /gene_synonym="BHLHB9; GASP3; p60TRP"
                     /coded_by="NM_001142525.2:607..2250"
                     /db_xref="GeneID:80823"
                     /db_xref="HGNC:HGNC:29353"
                     /db_xref="MIM:300921"
ORIGIN      
        1 magtknktra qaktekkaai qakagaerea tgvvrpvakt rakakaktgs ktdavaemka
       61 vsknkvvaet kegalsepkt lgkamgdftp kagnestsst ckneagtdaw fwageeatin
      121 swfwngeeag nsfstkndkp eigaqvcaee lepaagadck prsgaeeeee envignwfwe
      181 gddtsfdpnp kpvsrivkpq pvyeineknr pkdwsevtiw pnapavtpav lgfrsqapse
      241 asppsyivla saeenacslp vatacrpsrn trscsqpipe crfdsdpciq tideirrqir
      301 irevngikpf acpckmecym dseefeklvs llksttdpli hkiariamgv hnvhpfaqef
      361 inevgvvtli esllsfpspe mrkktvitln ppsgderqrk ielhvkhmck etmsfplnsp
      421 gqqsglkilg qlttdfvhhy ivanyfself hllssgnckt rnlvlkllln msenptaard
      481 minmkalaal klifnqkeak anlvsgvaif inikehirkg sivvvdhlsy ntlmaifrev
      541 keiietm
//
LOCUS       NP_001772                199 aa            linear   PRI 27-DEC-2022
DEFINITION  early activation antigen CD69 [Homo sapiens].
ACCESSION   NP_001772
VERSION     NP_001772.1
DBSOURCE    REFSEQ: accession NM_001781.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 199)
  AUTHORS   Wang P, Zhang Z, Lin R, Lin J, Liu J, Zhou X, Jiang L, Wang Y, Deng
            X, Lai H and Xiao H.
  TITLE     Machine learning links different gene patterns of viral infection
            to immunosuppression and immune-related biomarkers in severe burns
  JOURNAL   Front Immunol 13, 1054407 (2022)
   PUBMED   36518755
  REMARK    GeneRIF: Machine learning links different gene patterns of viral
            infection to immunosuppression and immune-related biomarkers in
            severe burns.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 199)
  AUTHORS   Kratzer B, Schlax LC, Gattinger P, Waidhofer-Sollner P, Trapin D,
            Tauber PA, Sehgal ANA, Kormoczi U, Rottal A, Feichter M, Oberhofer
            T, Grabmeier-Pfistershammer K, Borochova K, Dorofeeva Y, Tulaeva I,
            Weber M, Muhl B, Kropfmuller A, Negrin B, Kundi M, Valenta R and
            Pickl WF.
  TITLE     Combined assessment of S- and N-specific IL-2 and IL-13 secretion
            and CD69 neo-expression for discrimination of post-infection and
            post-vaccination cellular SARS-CoV-2-specific immune response
  JOURNAL   Allergy 77 (11), 3408-3425 (2022)
   PUBMED   35690994
  REMARK    GeneRIF: Combined assessment of S- and N-specific IL-2 and IL-13
            secretion and CD69 neo-expression for discrimination of
            post-infection and post-vaccination cellular SARS-CoV-2-specific
            immune response.
REFERENCE   3  (residues 1 to 199)
  AUTHORS   Nakayama T, Hirahara K, Kimura MY, Iwamura C, Kiuchi M, Kokubo K,
            Onodera A, Hashimoto K and Motohashi S.
  TITLE     CD4+ T cells in inflammatory diseases: pathogenic T-helper cells
            and the CD69-Myl9 system
  JOURNAL   Int Immunol 33 (12), 699-704 (2021)
   PUBMED   34427648
  REMARK    GeneRIF: CD4+ T cells in inflammatory diseases: pathogenic T-helper
            cells and the CD69-Myl9 system.
            Review article
REFERENCE   4  (residues 1 to 199)
  AUTHORS   ElMenshawy N, Farag NA, Atia DM, Abousamra N, Shahin D, Fawzi E,
            Ghazi H, El-Kott AF and Eissa M.
  TITLE     Prognostic Relevance of Concordant Expression CD69 and CD56 in
            Response to Bortezomib Combination Therapy in Multiple Myeloma
            Patients
  JOURNAL   Cancer Invest 39 (9), 777-782 (2021)
   PUBMED   34344244
  REMARK    GeneRIF: Prognostic Relevance of Concordant Expression CD69 and
            CD56 in Response to Bortezomib Combination Therapy in Multiple
            Myeloma Patients.
REFERENCE   5  (residues 1 to 199)
  AUTHORS   Lopez-Cabrera M, Munoz E, Blazquez MV, Ursa MA, Santis AG and
            Sanchez-Madrid F.
  TITLE     Transcriptional regulation of the gene encoding the human C-type
            lectin leukocyte receptor AIM/CD69 and functional characterization
            of its tumor necrosis factor-alpha-responsive elements
  JOURNAL   J Biol Chem 270 (37), 21545-21551 (1995)
   PUBMED   7665567
REFERENCE   6  (residues 1 to 199)
  AUTHORS   Bezouska K, Nepovim A, Horvath O, Pospisil M, Hamann J and Feizi T.
  TITLE     CD 69 antigen of human lymphocytes is a calcium-dependent
            carbohydrate-binding protein
  JOURNAL   Biochem Biophys Res Commun 208 (1), 68-74 (1995)
   PUBMED   7887967
REFERENCE   7  (residues 1 to 199)
  AUTHORS   Santis AG, Lopez-Cabrera M, Hamann J, Strauss M and Sanchez-Madrid
            F.
  TITLE     Structure of the gene coding for the human early lymphocyte
            activation antigen CD69: a C-type lectin receptor evolutionarily
            related with the gene families of natural killer cell-specific
            receptors
  JOURNAL   Eur J Immunol 24 (7), 1692-1697 (1994)
   PUBMED   8026529
REFERENCE   8  (residues 1 to 199)
  AUTHORS   Lopez-Cabrera M, Santis AG, Fernandez-Ruiz E, Blacher R, Esch F,
            Sanchez-Mateos P and Sanchez-Madrid F.
  TITLE     Molecular cloning, expression, and chromosomal localization of the
            human earliest lymphocyte activation antigen AIM/CD69, a new member
            of the C-type animal lectin superfamily of signal-transmitting
            receptors
  JOURNAL   J Exp Med 178 (2), 537-547 (1993)
   PUBMED   8340758
REFERENCE   9  (residues 1 to 199)
  AUTHORS   Ziegler SF, Ramsdell F, Hjerrild KA, Armitage RJ, Grabstein KH,
            Hennen KB, Farrah T, Fanslow WC, Shevach EM and Alderson MR.
  TITLE     Molecular characterization of the early activation antigen CD69: a
            type II membrane glycoprotein related to a family of natural killer
            cell activation antigens
  JOURNAL   Eur J Immunol 23 (7), 1643-1648 (1993)
   PUBMED   8100776
REFERENCE   10 (residues 1 to 199)
  AUTHORS   Cambiaggi C, Scupoli MT, Cestari T, Gerosa F, Carra G, Tridente G
            and Accolla RS.
  TITLE     Constitutive expression of CD69 in interspecies T-cell hybrids and
            locus assignment to human chromosome 12
  JOURNAL   Immunogenetics 36 (2), 117-120 (1992)
   PUBMED   1612643
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z22576.1 and AC007068.17.
            
            Summary: This gene encodes a member of the calcium dependent lectin
            superfamily of type II transmembrane receptors. Expression of the
            encoded protein is induced upon activation of T lymphocytes, and
            may play a role in proliferation. Furthermore, the protein may act
            to transmit signals in natural killer cells and platelets.
            [provided by RefSeq, Aug 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Z22576.1, BC007037.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000228434.7/ ENSP00000228434.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..199
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     Protein         1..199
                     /product="early activation antigen CD69"
                     /note="CD69 antigen (p60, early T-cell activation
                     antigen); C-type lectin domain family 2, member C;
                     activation inducer molecule (AIM/CD69); early lymphocyte
                     activation antigen; leukocyte surface antigen Leu-23;
                     early T-cell activation antigen p60"
                     /calculated_mol_wt=22428
     Region          1..29
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07108.1)"
     Site            41..61
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07108.1)"
     Region          85..196
                     /region_name="CLECT_NK_receptors_like"
                     /note="C-type lectin-like domain (CTLD) of the type found
                     in natural killer cell receptors (NKRs); cd03593"
                     /db_xref="CDD:153063"
     Site            order(140,166,180,182..183)
                     /site_type="other"
                     /note="ligand binding surface [chemical binding]"
                     /db_xref="CDD:153063"
     Site            166
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q07108.1)"
     CDS             1..199
                     /gene="CD69"
                     /gene_synonym="AIM; BL-AC/P26; CLEC2C; EA1; GP32/28;
                     MLR-3"
                     /coded_by="NM_001781.2:82..681"
                     /db_xref="CCDS:CCDS8604.1"
                     /db_xref="GeneID:969"
                     /db_xref="HGNC:HGNC:1694"
                     /db_xref="MIM:107273"
ORIGIN      
        1 mssencfvae nsslhpesgq endatsphfs trhegsfqvp vlcavmnvvf itiliialia
       61 lsvgqyncpg qytfsmpsds hvsscsedwv gyqrkcyfis tvkrswtsaq nacsehgatl
      121 avidsekdmn flkryagree hwvglkkepg hpwkwsngke fnnwfnvtgs dkcvflknte
      181 vssmeceknl ywicnkpyk
//
LOCUS       NP_001138328             790 aa            linear   PRI 28-DEC-2022
DEFINITION  pleckstrin homology domain-containing family G member 6 isoform a
            [Homo sapiens].
ACCESSION   NP_001138328
VERSION     NP_001138328.1
DBSOURCE    REFSEQ: accession NM_001144856.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 790)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 790)
  AUTHORS   Ke J, Tian J, Mei S, Ying P, Yang N, Wang X, Zou D, Peng X, Yang Y,
            Zhu Y, Gong Y, Wang Z, Gong J, Zhong R, Chang J and Miao X.
  TITLE     Genetic Predisposition to Colon and Rectal Adenocarcinoma Is
            Mediated by a Super-enhancer Polymorphism Coactivating CD9 and
            PLEKHG6
  JOURNAL   Cancer Epidemiol Biomarkers Prev 29 (4), 850-859 (2020)
   PUBMED   31988071
  REMARK    GeneRIF: Genetic Predisposition to Colon and Rectal Adenocarcinoma
            Is Mediated by a Super-enhancer Polymorphism Coactivating CD9 and
            PLEKHG6.
REFERENCE   3  (residues 1 to 790)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 790)
  AUTHORS   O'Neill AC, Kyrousi C, Klaus J, Leventer RJ, Kirk EP, Fry A, Pilz
            DT, Morgan T, Jenkins ZA, Drukker M, Berkovic SF, Scheffer IE,
            Guerrini R, Markie DM, Gotz M, Cappello S and Robertson SP.
  TITLE     A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and
            Neuronal Migration
  JOURNAL   Cell Rep 25 (10), 2729-2741 (2018)
   PUBMED   30517861
  REMARK    GeneRIF: PLEKHG6 isoform is an example of a primate-specific
            genomic element supporting brain development.
REFERENCE   5  (residues 1 to 790)
  AUTHORS   Jiao M, Wu D and Wei Q.
  TITLE     Myosin II-interacting guanine nucleotide exchange factor promotes
            bleb retraction via stimulating cortex reassembly at the bleb
            membrane
  JOURNAL   Mol Biol Cell 29 (5), 643-656 (2018)
   PUBMED   29321250
  REMARK    GeneRIF: Ezrin interacts with MYOGEF and recruits it to retracting
            blebs, where MYOGEF activates RhoA and promotes the reassembly of
            the cortical actomyosin network at the bleb membrane, thus
            contributing to the regulation of bleb retraction.
REFERENCE   6  (residues 1 to 790)
  AUTHORS   Wu D, Asiedu M and Wei Q.
  TITLE     Myosin-interacting guanine exchange factor (MyoGEF) regulates the
            invasion activity of MDA-MB-231 breast cancer cells through
            activation of RhoA and RhoC
  JOURNAL   Oncogene 28 (22), 2219-2230 (2009)
   PUBMED   19421144
  REMARK    GeneRIF: MyoGEF cooperates with nonmuscle myosin IIA to regulate
            the polarity and invasion activity of breast cancer cells through
            activation of RhoA and RhoC.
REFERENCE   7  (residues 1 to 790)
  AUTHORS   Asiedu M, Wu D, Matsumura F and Wei Q.
  TITLE     Centrosome/spindle pole-associated protein regulates cytokinesis
            via promoting the recruitment of MyoGEF to the central spindle
  JOURNAL   Mol Biol Cell 20 (5), 1428-1440 (2009)
   PUBMED   19129481
REFERENCE   8  (residues 1 to 790)
  AUTHORS   Asiedu M, Wu D, Matsumura F and Wei Q.
  TITLE     Phosphorylation of MyoGEF on Thr-574 by Plk1 promotes MyoGEF
            localization to the central spindle
  JOURNAL   J Biol Chem 283 (42), 28392-28400 (2008)
   PUBMED   18694934
  REMARK    GeneRIF: Plk1 can regulate MyoGEF activity and localization,
            contributing to the regulation of cytokinesis
REFERENCE   9  (residues 1 to 790)
  AUTHORS   D'Angelo R, Aresta S, Blangy A, Del Maestro L, Louvard D and Arpin
            M.
  TITLE     Interaction of ezrin with the novel guanine nucleotide exchange
            factor PLEKHG6 promotes RhoG-dependent apical cytoskeleton
            rearrangements in epithelial cells
  JOURNAL   Mol Biol Cell 18 (12), 4780-4793 (2007)
   PUBMED   17881735
  REMARK    GeneRIF: ezrin allows the local activation of RhoG at the apical
            pole of epithelial cells by recruiting upstream and downstream
            regulators of RhoG and that both PLEKHG6 and ezrin are required for
            efficient macropinocytosis
REFERENCE   10 (residues 1 to 790)
  AUTHORS   Wu D, Asiedu M, Adelstein RS and Wei Q.
  TITLE     A novel guanine nucleotide exchange factor MyoGEF is required for
            cytokinesis
  JOURNAL   Cell Cycle 5 (11), 1234-1239 (2006)
   PUBMED   16721066
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006057.5.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK023741.1, SRR14038192.1270497.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..790
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     Protein         1..790
                     /product="pleckstrin homology domain-containing family G
                     member 6 isoform a"
                     /note="myosin interacting guanine nucleotide exchange
                     factor; pleckstrin homology domain-containing family G
                     member 6; PH domain-containing family G member 6; myosin
                     II interacting GEF; pleckstrin homology domain containing,
                     family G (with RhoGef domain) member 6"
                     /calculated_mol_wt=88829
     Region          63..91
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3KR16.3)"
     Region          165..351
                     /region_name="RhoGEF"
                     /note="RhoGEF domain; pfam00621"
                     /db_xref="CDD:425783"
     Site            order(168,172,275,303..304,307..308,310..311,314..315,
                     318..319,322,347,351)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          408..506
                     /region_name="PH_PLEKHG5_G6"
                     /note="Pleckstrin homology domain-containing family G
                     member 5 and 6 pleckstrin homology (PH) domain; cd13244"
                     /db_xref="CDD:270064"
     Region          529..677
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3KR16.3)"
     Region          690..730
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3KR16.3)"
     Region          748..790
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3KR16.3)"
     CDS             1..790
                     /gene="PLEKHG6"
                     /gene_synonym="MyoGEF"
                     /coded_by="NM_001144856.2:164..2536"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS8541.1"
                     /db_xref="GeneID:55200"
                     /db_xref="HGNC:HGNC:25562"
                     /db_xref="MIM:611743"
ORIGIN      
        1 mkafgppheg plqglvasri etyggrhras aqstagrlyp rgypvldpsr rrlqqyvpfa
       61 rgsgqargls pmrlrdpepe krhgghvgag llhspklkel tkahelevrl htfsmfgmpr
      121 lppedrrhwe igeggdsglt iekswrelvp ghkemsqelc hqqealwell tteliyvrkl
      181 kimtdllaag llnlqrvgll mevsaetlfg nvpslirthr sfwdevlgpt leetrasgqp
      241 ldpiglqsgf ltfgqrfhpy vqyclrvkqt mayareqqet nplfhafvqw cekhkrsgrq
      301 mlcdllikph qritkyplll havlkrspea raqealnami eavesflrhi ngqvrqgeeq
      361 eslaaaaqri gpyevlepps deveknlrpf stldltspml gvasehtrql llegpvrvke
      421 gregkldvyl flfsdvllvt kpqrkadkak virpplmlek lvcqplrdpn sfllihltef
      481 qcvssallvh cpsptdraqw lektqqaqaa lqklkaeeyv qqkrelltly rdqdrespst
      541 rpstpslegs qssaegrtpe fstiiphlvv tedtdedapl vpddtsdsgy gtlipgtptg
      601 srsplsrlrq ralrrdprlt fstlelrdip lrphppdpqa pqrrsapelp egilkggslp
      661 qedpptwsee edgasergnv vvetlhrarl rgqlpsspth adsagespwe ssgeeeeegp
      721 lflkaghtsl rpmraedmlr eireelasqr iegaeeprds rprkltraql qrmrgphiiq
      781 ldtplsasev
//
LOCUS       NP_001156995             547 aa            linear   PRI 29-DEC-2022
DEFINITION  inositol 1,4,5-trisphosphate receptor-interacting protein-like 1
            isoform 3 precursor [Homo sapiens].
ACCESSION   NP_001156995
VERSION     NP_001156995.1
DBSOURCE    REFSEQ: accession NM_001163523.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 547)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   2  (residues 1 to 547)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC021188.6.
            
            Transcript Variant: This variant (3) represents use of an alternate
            promoter and 5' UTR and uses a downstream start codon, compared to
            variant 1. The resulting isoform (3) has a shorter N-terminus,
            compared to isoform 1. Variants 3, 4, and 5 all encode the same
            isoform (3).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853561.16425.1,
                                           SRR11853559.18864.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..547
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     Protein         1..547
                     /product="inositol 1,4,5-trisphosphate
                     receptor-interacting protein-like 1 isoform 3 precursor"
                     /note="inositol 1,4,5-trisphosphate receptor interacting
                     protein-like 1; inositol 1,4,5-triphosphate
                     receptor-interacting protein-like 1"
                     /calculated_mol_wt=60789
     sig_peptide     1..16
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1806
     Region          <370..514
                     /region_name="Mab-21"
                     /note="Mab-21 protein; pfam03281"
                     /db_xref="CDD:397398"
     CDS             1..547
                     /gene="ITPRIPL1"
                     /gene_synonym="KIAA1754L"
                     /coded_by="NM_001163523.2:264..1907"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS54378.1"
                     /db_xref="GeneID:150771"
                     /db_xref="HGNC:HGNC:29371"
ORIGIN      
        1 mavisllfla vmyvvhhplm vsdrmdldtl arsrqlekrm seemrlleme feerkraaeq
       61 rqkaenfwtg dtssdqlvlg kkdmgwpfqa dgqegplgwm lgnlwntglf clflvfellr
      121 qnmqhepafd ssseeeeeev rvvpvtsynw ltdfpsqeal dsfykhyvqn airdlpctce
      181 fvesfvddli eacrvlsrqe ahpqledclg igaafekwgt lhetqkfdil vpivppqgtm
      241 fvlemrdpal grrcgcvlve secvckrekl lgdvlclvhh hrdpsavlgk csssikaalc
      301 tgfhldvckt vqwfrnmmgn awalvahkyd fklslppstt scklrldyrs grflsihlvl
      361 gvqredtlvy lvsqapdqeq ltsvdwpesf vacehlflkl vgrfapentc hlkclqiils
      421 lrqhqslphg asrpiltsyh fktalmhlll rlpltdwahn mlsqrlqdil wflgrglqqr
      481 slhhflignn flpltipipk tfrnaepvnl fqhlvlnpka hsqaveefqn lltqvktlph
      541 aplaaap
//
LOCUS       NP_001373970             346 aa            linear   PRI 30-DEC-2022
DEFINITION  heparan sulfate glucosamine 3-O-sulfotransferase 5 [Homo sapiens].
ACCESSION   NP_001373970 XP_016865963
VERSION     NP_001373970.1
DBSOURCE    REFSEQ: accession NM_001387041.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 346)
  AUTHORS   Wang Q, Xiang B, Deng W, Wu J, Li M, Ma X, Wang Y, Jiang L,
            McAlonan G, Chua SE, Sham PC, Hu X and Li T.
  TITLE     Genome-wide association analysis with gray matter volume as a
            quantitative phenotype in first-episode treatment-naive patients
            with schizophrenia
  JOURNAL   PLoS One 8 (9), e75083 (2013)
   PUBMED   24086445
  REMARK    Erratum:[PLoS One. 2015;10(4):e0122945. PMID: 25848962]
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 346)
  AUTHORS   Vieira AR, McHenry TG, Daack-Hirsch S, Murray JC and Marazita ML.
  TITLE     Candidate gene/loci studies in cleft lip/palate and dental
            anomalies finds novel susceptibility genes for clefts
  JOURNAL   Genet Med 10 (9), 668-674 (2008)
   PUBMED   18978678
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 346)
  AUTHORS   Chen J and Liu J.
  TITLE     Characterization of the structure of antithrombin-binding heparan
            sulfate generated by heparan sulfate 3-O-sulfotransferase 5
  JOURNAL   Biochim Biophys Acta 1725 (2), 190-200 (2005)
   PUBMED   16099108
  REMARK    GeneRIF: Structural analysis of 3-OST-5 HS(act) revealed that the
            antithrombin-binding site of 3-OST-5 HS(act) is located within a
            domain clustered with N-sulfated glucosamine units.
REFERENCE   4  (residues 1 to 346)
  AUTHORS   Duncan MB, Chen J, Krise JP and Liu J.
  TITLE     The biosynthesis of anticoagulant heparan sulfate by the heparan
            sulfate 3-O-sulfotransferase isoform 5
  JOURNAL   Biochim Biophys Acta 1671 (1-3), 34-43 (2004)
   PUBMED   15026143
  REMARK    GeneRIF: Results demonstrate that the human 3-O-sulfotransferase
            isoform 5 gene is capable of synthesizing anticoagulant heparan
            sulfate (HS) in CHO cells and may contribute to the biosynthesis of
            HS in humans.
REFERENCE   5  (residues 1 to 346)
  AUTHORS   Mochizuki H, Yoshida K, Gotoh M, Sugioka S, Kikuchi N, Kwon YD,
            Tawada A, Maeyama K, Inaba N, Hiruma T, Kimata K and Narimatsu H.
  TITLE     Characterization of a heparan sulfate 3-O-sulfotransferase-5, an
            enzyme synthesizing a tetrasulfated disaccharide
  JOURNAL   J Biol Chem 278 (29), 26780-26787 (2003)
   PUBMED   12740361
  REMARK    GeneRIF: Recombinant 3-OST-5 only exhibited sulfotransferase
            activity toward heparan sulfate and heparin. 3-OST-5 was highly
            expressed in fetal brain, followed by adult brain and spinal cord,
            and at very low or undetectable levels in other tissues.
REFERENCE   6  (residues 1 to 346)
  AUTHORS   Xia G, Chen J, Tiwari V, Ju W, Li JP, Malmstrom A, Shukla D and Liu
            J.
  TITLE     Heparan sulfate 3-O-sulfotransferase isoform 5 generates both an
            antithrombin-binding site and an entry receptor for herpes simplex
            virus, type 1
  JOURNAL   J Biol Chem 277 (40), 37912-37919 (2002)
   PUBMED   12138164
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL136446.14, AL500524.10 and AL355498.10.
            On Sep 21, 2020 this sequence version replaced XP_016865963.1.
            
            Summary: HS3ST5 belongs to a group of heparan sulfate
            3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from
            3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan
            sulfate and heparin (Mochizuki et al., 2003 [PubMed
            12740361]).[supplied by OMIM, Mar 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.372770.1,
                                           SRR14038192.1193890.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665, SAMN03267774
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..346
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21-q22.1"
     Protein         1..346
                     /product="heparan sulfate glucosamine 3-O-sulfotransferase
                     5"
                     /EC_number="2.8.2.23"
                     /note="heparan sulfate 3-OST-5; h3-OST-5; heparan sulfate
                     3-O-sulfotransferase 5; heparan sulfate D-glucosaminyl
                     3-O-sulfotransferase 5; heparan sulfate (glucosamine)
                     3-O-sulfotransferase 5"
                     /calculated_mol_wt=40277
     Site            13..32
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZT8.1)"
     Region          90..330
                     /region_name="Sulfotransfer_3"
                     /note="Sulfotransferase family; cl21551"
                     /db_xref="CDD:451306"
     Site            287
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8IZT8.1)"
     CDS             1..346
                     /gene="HS3ST5"
                     /gene_synonym="3-OST-5; 3OST5; HS3OST5; NBLA04021"
                     /coded_by="NM_001387041.1:1164..2204"
                     /db_xref="CCDS:CCDS34517.1"
                     /db_xref="GeneID:222537"
                     /db_xref="HGNC:HGNC:19419"
                     /db_xref="MIM:609407"
ORIGIN      
        1 mlfkqqawlr qkllvlgsla vgsllylvar vgsldrlqpi cpiegrlgga rtqaefplra
       61 lqfkrgllhe frkgnaskeq vrlhdlvqql pkaiiigvrk ggtralleml nlhpavvkas
      121 qeihffdnde nygkgiewyr kkmpfsypqq itiekspayf iteevperiy kmnssiklli
      181 ivrepttrai sdytqvlegk erknktyykf eklaidpntc evntkykavr tsiytkhler
      241 wlkyfpieqf hvvdgdrlit eplpelqlve kflnlppris qynlyfnatr gfyclrfnii
      301 fnkclagskg rihpevdpsv itklrkffhp fnqkfyqitg rtlnwp
//
LOCUS       NP_003302                152 aa            linear   PRI 13-MAR-2023
DEFINITION  pleckstrin homology-like domain family A member 2 [Homo sapiens].
ACCESSION   NP_003302
VERSION     NP_003302.1
DBSOURCE    REFSEQ: accession NM_003311.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 152)
  AUTHORS   Song G and Jin F.
  TITLE     RhoGDI1 interacts with PHLDA2, suppresses the proliferation,
            migration, and invasion of trophoblast cells, and participates in
            the pathogenesis of preeclampsia
  JOURNAL   Hum Cell 35 (5), 1440-1452 (2022)
   PUBMED   35841528
  REMARK    GeneRIF: RhoGDI1 interacts with PHLDA2, suppresses the
            proliferation, migration, and invasion of trophoblast cells, and
            participates in the pathogenesis of preeclampsia.
REFERENCE   2  (residues 1 to 152)
  AUTHORS   Guo C, Liu S, Zhang T, Yang J, Liang Z and Lu S.
  TITLE     Knockdown of PHLDA2 promotes apoptosis and autophagy of glioma
            cells through the AKT/mTOR pathway
  JOURNAL   J Neurogenet 36 (2-3), 74-80 (2022)
   PUBMED   35894264
  REMARK    GeneRIF: Knockdown of PHLDA2 promotes apoptosis and autophagy of
            glioma cells through the AKT/mTOR pathway.
REFERENCE   3  (residues 1 to 152)
  AUTHORS   Koh SA and Lee KH.
  TITLE     HGF-mediated Up-regulation of PHLDA2 Is Associated With Apoptosis
            in Gastric Cancer
  JOURNAL   Anticancer Res 41 (9), 4377-4385 (2021)
   PUBMED   34475057
  REMARK    GeneRIF: HGF-mediated Up-regulation of PHLDA2 Is Associated With
            Apoptosis in Gastric Cancer.
REFERENCE   4  (residues 1 to 152)
  AUTHORS   Lei L, Wang Y, Li ZH, Fei LR, Huang WJ, Zheng YW, Liu CC, Yang MQ,
            Wang Z, Zou ZF and Xu HT.
  TITLE     PHLDA3 promotes lung adenocarcinoma cell proliferation and invasion
            via activation of the Wnt signaling pathway
  JOURNAL   Lab Invest 101 (9), 1130-1141 (2021)
   PUBMED   34006890
  REMARK    GeneRIF: PHLDA3 promotes lung adenocarcinoma cell proliferation and
            invasion via activation of the Wnt signaling pathway.
REFERENCE   5  (residues 1 to 152)
  AUTHORS   Xiao F, Liu X, Chen Y and Dai H.
  TITLE     Tumor-Suppressing STF cDNA 3 Overexpression Suppresses Renal
            Fibrosis by Alleviating Anoikis Resistance and Inhibiting the
            PI3K/Akt Pathway
  JOURNAL   Kidney Blood Press Res 46 (5), 588-600 (2021)
   PUBMED   34284400
  REMARK    GeneRIF: Tumor-Suppressing STF cDNA 3 Overexpression Suppresses
            Renal Fibrosis by Alleviating Anoikis Resistance and Inhibiting the
            PI3K/Akt Pathway.
REFERENCE   6  (residues 1 to 152)
  AUTHORS   Feinberg AP.
  TITLE     Imprinting of a genomic domain of 11p15 and loss of imprinting in
            cancer: an introduction
  JOURNAL   Cancer Res 59 (7 Suppl), 1743s-1746s (1999)
   PUBMED   10197590
  REMARK    Review article
REFERENCE   7  (residues 1 to 152)
  AUTHORS   Schwienbacher C, Sabbioni S, Campi M, Veronese A, Bernardi G,
            Menegatti A, Hatada I, Mukai T, Ohashi H, Barbanti-Brodano G, Croce
            CM and Negrini M.
  TITLE     Transcriptional map of 170-kb region at chromosome 11p15.5:
            identification and mutational analysis of the BWR1A gene reveals
            the presence of mutations in tumor samples
  JOURNAL   Proc Natl Acad Sci U S A 95 (7), 3873-3878 (1998)
   PUBMED   9520460
REFERENCE   8  (residues 1 to 152)
  AUTHORS   Lee MP and Feinberg AP.
  TITLE     Genomic imprinting of a human apoptosis gene homologue, TSSC3
  JOURNAL   Cancer Res 58 (5), 1052-1056 (1998)
   PUBMED   9500470
REFERENCE   9  (residues 1 to 152)
  AUTHORS   Hu RJ, Lee MP, Connors TD, Johnson LA, Burn TC, Su K, Landes GM and
            Feinberg AP.
  TITLE     A 2.5-Mb transcript map of a tumor-suppressing subchromosomal
            transferable fragment from 11p15.5, and isolation and sequence
            analysis of three novel genes
  JOURNAL   Genomics 46 (1), 9-17 (1997)
   PUBMED   9403053
REFERENCE   10 (residues 1 to 152)
  AUTHORS   Qian N, Frank D, O'Keefe D, Dao D, Zhao L, Yuan L, Wang Q, Keating
            M, Walsh C and Tycko B.
  TITLE     The IPL gene on chromosome 11p15.5 is imprinted in humans and mice
            and is similar to TDAG51, implicated in Fas expression and
            apoptosis
  JOURNAL   Hum Mol Genet 6 (12), 2021-2029 (1997)
   PUBMED   9328465
  REMARK    GeneRIF: PHLDA2 gene is imprinted, with preferential expression
            from the maternal allele in placenta and liver.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF035444.1 and AI659266.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene is located in a cluster of imprinted genes on
            chromosome 11p15.5, which is considered to be an important tumor
            suppressor gene region. Alterations in this region may be
            associated with the Beckwith-Wiedemann syndrome, Wilms tumor,
            rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and
            breast cancer. This gene has been shown to be imprinted, with
            preferential expression from the maternal allele in placenta and
            liver. [provided by RefSeq, Oct 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF035444.1, BU500509.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 9328465
            MANE Ensembl match     :: ENST00000314222.5/ ENSP00000319231.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..152
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..152
                     /product="pleckstrin homology-like domain family A member
                     2"
                     /note="tumor suppressing subtransferable candidate 3;
                     tumor suppressing subchromosomal transferable fragment
                     cDNA 3; p17-Beckwith-Wiedemann region 1C; tumor-supressing
                     STF cDNA 3; p17-BWR1C; p17-Beckwith-Wiedemann region 1 C;
                     imprinted in placenta and liver protein;
                     beckwith-Wiedemann syndrome chromosomal region 1 candidate
                     gene C protein; tumor-suppressing subchromosomal
                     transferable fragment candidate gene 3 protein"
                     /calculated_mol_wt=16961
     Site            3
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q53GA4.2)"
     Region          7..98
                     /region_name="PH"
                     /note="Pleckstrin homology domain; smart00233"
                     /db_xref="CDD:214574"
     Site            42
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q53GA4.2)"
     Region          112..152
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53GA4.2)"
     Site            141
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q53GA4.2)"
     Site            144
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q53GA4.2)"
     Site            151
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q53GA4.2)"
     CDS             1..152
                     /gene="PHLDA2"
                     /gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
                     /coded_by="NM_003311.4:57..515"
                     /db_xref="CCDS:CCDS7741.1"
                     /db_xref="GeneID:7262"
                     /db_xref="HGNC:HGNC:12385"
                     /db_xref="MIM:602131"
ORIGIN      
        1 mkspdevlre gelekrsdsl fqlwkkkrgv ltsdrlslfp asprarpkel rfhsilkvdc
       61 vertgkyvyf tivttdhkei dfrcagescw naaialalid fqnrralqdf rsrqertapa
      121 apaedavaaa aaapsepsep srpspqpkpr tp
//
LOCUS       NP_001355638             143 aa            linear   PRI 14-MAR-2023
DEFINITION  core-binding factor subunit beta isoform 5 [Homo sapiens].
ACCESSION   NP_001355638 XP_016879301
VERSION     NP_001355638.1
DBSOURCE    REFSEQ: accession NM_001368709.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 143)
  AUTHORS   Khan AS, Campbell KJ, Cameron ER and Blyth K.
  TITLE     The RUNX/CBFbeta Complex in Breast Cancer: A Conundrum of Context
  JOURNAL   Cells 12 (4), 641 (2023)
   PUBMED   36831308
  REMARK    GeneRIF: The RUNX/CFBbeta Complex in Breast Cancer: A Conundrum of
            Context.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 143)
  AUTHORS   Jiang Y, Chao HY, Lu XZ, Wu P and Sun XC.
  TITLE     [Molecular Genetic Characteristics of Acute Myeloid Leukemia
            Patients with CBFbeta-MYH11 Positive]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 30 (6), 1661-1667 (2022)
   PUBMED   36476886
  REMARK    GeneRIF: [Molecular Genetic Characteristics of Acute Myeloid
            Leukemia Patients with CBFbeta-MYH11 Positive].
REFERENCE   3  (residues 1 to 143)
  AUTHORS   Zhao C, Wang S and Wang K.
  TITLE     Mutual exclusivity between the fusion gene CBFB::MYH11 and somatic
            mitochondrial mutations in acute myeloid leukaemia
  JOURNAL   Br J Haematol 199 (4), e25-e29 (2022)
   PUBMED   36039018
  REMARK    GeneRIF: Mutual exclusivity between the fusion gene CBFB::MYH11 and
            somatic mitochondrial mutations in acute myeloid leukaemia.
REFERENCE   4  (residues 1 to 143)
  AUTHORS   Hsu CH, Ma HP, Ong JR, Hsieh MS, Yadav VK, Yeh CT, Chao TY, Lee WH,
            Huang WC, Kuo KT, Fong IH, Lin CC and Su CM.
  TITLE     Cancer-Associated Exosomal CBFB Facilitates the Aggressive
            Phenotype, Evasion of Oxidative Stress, and Preferential
            Predisposition to Bone Prometastatic Factor of Breast Cancer
            Progression
  JOURNAL   Dis Markers 2022, 8446629 (2022)
   PUBMED   35903297
  REMARK    GeneRIF: Cancer-Associated Exosomal CBFB Facilitates the Aggressive
            Phenotype, Evasion of Oxidative Stress, and Preferential
            Predisposition to Bone Prometastatic Factor of Breast Cancer
            Progression.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 143)
  AUTHORS   Tang G, Zou Y, Wang SA, Borthakur G, Toruner G, Hu S, Li S, Xu J,
            Medeiros LJ and Tang Z.
  TITLE     3'CBFB deletion in CBFB-rearranged acute myeloid leukemia retains
            morphological features associated with inv(16), but patients have
            higher risk of relapse and may require stem cell transplant
  JOURNAL   Ann Hematol 101 (4), 847-854 (2022)
   PUBMED   35184217
  REMARK    GeneRIF: 3'CBFB deletion in CBFB-rearranged acute myeloid leukemia
            retains morphological features associated with inv(16), but
            patients have higher risk of relapse and may require stem cell
            transplant.
REFERENCE   6  (residues 1 to 143)
  AUTHORS   Chiba N, Watanabe T, Nomura S, Tanaka Y, Minowa M, Niki M, Kanamaru
            R and Satake M.
  TITLE     Differentiation dependent expression and distinct subcellular
            localization of the protooncogene product, PEBP2beta/CBFbeta, in
            muscle development
  JOURNAL   Oncogene 14 (21), 2543-2552 (1997)
   PUBMED   9191054
REFERENCE   7  (residues 1 to 143)
  AUTHORS   Bae SC, Takahashi E, Zhang YW, Ogawa E, Shigesada K, Namba Y,
            Satake M and Ito Y.
  TITLE     Cloning, mapping and expression of PEBP2 alpha C, a third gene
            encoding the mammalian Runt domain
  JOURNAL   Gene 159 (2), 245-248 (1995)
   PUBMED   7622058
REFERENCE   8  (residues 1 to 143)
  AUTHORS   Liu P, Seidel N, Bodine D, Speck N, Tarle S and Collins FS.
  TITLE     Acute myeloid leukemia with Inv (16) produces a chimeric
            transcription factor with a myosin heavy chain tail
  JOURNAL   Cold Spring Harb Symp Quant Biol 59, 547-553 (1994)
   PUBMED   7587111
REFERENCE   9  (residues 1 to 143)
  AUTHORS   Liu P, Tarle SA, Hajra A, Claxton DF, Marlton P, Freedman M,
            Siciliano MJ and Collins FS.
  TITLE     Fusion between transcription factor CBF beta/PEBP2 beta and a
            myosin heavy chain in acute myeloid leukemia
  JOURNAL   Science 261 (5124), 1041-1044 (1993)
   PUBMED   8351518
REFERENCE   10 (residues 1 to 143)
  AUTHORS   Muller CW and Schulz GE.
  TITLE     Structure of the complex of adenylate kinase from Escherichia coli
            with the inhibitor P1,P5-di(adenosine-5'-)pentaphosphate
  JOURNAL   J Mol Biol 202 (4), 909-912 (1988)
   PUBMED   2845103
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009084.9 and AC074143.5.
            On Feb 19, 2019 this sequence version replaced XP_016879301.1.
            
            Summary: The protein encoded by this gene is the beta subunit of a
            heterodimeric core-binding transcription factor belonging to the
            PEBP2/CBF transcription factor family which master-regulates a host
            of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis
            (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory
            subunit; it allosterically enhances DNA binding by alpha subunit as
            the complex binds to the core site of various enhancers and
            promoters, including murine leukemia virus, polyomavirus enhancer,
            T-cell receptor enhancers and GM-CSF promoters. Alternative
            splicing generates two mRNA variants, each encoding a distinct
            carboxyl terminus. In some cases, a pericentric inversion of
            chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript
            consisting of the N terminus of core-binding factor beta in a
            fusion with the C-terminal portion of the smooth muscle myosin
            heavy chain 11. This chromosomal rearrangement is associated with
            acute myeloid leukemia of the M4Eo subtype. Two transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: Variants 5 and 6 encode isoforms that are the
            same length, but have distinct protein sequences.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.3111405.1,
                                           SRR14038192.4125386.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..143
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     Protein         1..143
                     /product="core-binding factor subunit beta isoform 5"
                     /note="SL3/AKV core-binding factor beta subunit;
                     polyomavirus enhancer binding protein 2, beta subunit;
                     SL3-3 enhancer factor 1 beta subunit; CBF-beta; PEA2-beta;
                     PEBP2-beta; SL3-3 enhancer factor 1 subunit beta"
                     /calculated_mol_wt=16979
     Region          1..128
                     /region_name="CBF_beta"
                     /note="Core binding factor beta subunit; pfam02312"
                     /db_xref="CDD:396750"
     CDS             1..143
                     /gene="CBFB"
                     /gene_synonym="CLCD2; PEBP2B"
                     /coded_by="NM_001368709.1:260..691"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:865"
                     /db_xref="HGNC:HGNC:1539"
                     /db_xref="MIM:121360"
ORIGIN      
        1 mprvvpdqrs kfeneeffrk lsreceikyt gfrdrpheer qarfqnacrd grseivylka
       61 pmilngvcvi wkgwidlqrl dgmgclefde eraqqedala qqafeearrr trefedrdrs
      121 hreemevrvs qllavtgkkt trp
//
LOCUS       NP_001258370             375 aa            linear   PRI 15-MAR-2023
DEFINITION  nuclear encoded mitochondrial protein C21orf2 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001258370
VERSION     NP_001258370.1
DBSOURCE    REFSEQ: accession NM_001271441.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 375)
  AUTHORS   Chiu N, Lee W, Liu PK, Levi SR, Wang HH, Chen N, Kang EY, Seo GH,
            Lee H, Liu L, Wu WC, Tsai SH and Wang NK.
  TITLE     A homozygous in-frame duplication within the LRRCT consensus
            sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma
            and short stature
  JOURNAL   Ophthalmic Genet 43 (3), 378-384 (2022)
   PUBMED   34915818
REFERENCE   2  (residues 1 to 375)
  AUTHORS   McInerney-Leo AM, Wheeler L, Marshall MS, Anderson LK, Zankl A,
            Brown MA, Leo PJ, Wicking C and Duncan EL.
  TITLE     Homozygous variant in C21orf2 in a case of Jeune syndrome with
            severe thoracic involvement: Extending the phenotypic spectrum
  JOURNAL   Am J Med Genet A 173 (6), 1698-1704 (2017)
   PUBMED   28422394
  REMARK    GeneRIF: Identification of a homozygous C21orf2 mutation in this
            case emphasizes the value of exome sequencing for simultaneously
            screening known genes and identifying novel genes.the severity of
            thoracic restriction in this case adds to the phenotypic spectrum
            attributable to C21orf2 mutations.
REFERENCE   3  (residues 1 to 375)
  AUTHORS   van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP,
            Pulit SL, van der Spek RA, Vosa U, de Jong S, Robinson MR, Yang J,
            Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM,
            Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O,
            Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N,
            Lin K, Rogelj B, Vrabec K, Ravnik-Glavac M, Koritnik B, Zidar J,
            Leonardis L, Groselj LD, Millecamps S, Salachas F, Meininger V, de
            Carvalho M, Pinto S, Mora JS, Rojas-Garcia R, Polak M, Chandran S,
            Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW,
            Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla
            S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA,
            Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ,
            Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y,
            Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel
            C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S,
            Durr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon
            S, Nothen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG,
            Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der
            Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN,
            Pansarasa O, Cereda C, Del Bo R, Comi GP, D'Alfonso S, Bertolin C,
            Soraru G, Mazzini L, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo
            A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C,
            Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ, Blair
            I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett
            R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T,
            Stubendorff B, Kurth I, Hubner CA, Leigh PN, Casale F, Chio A,
            Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC,
            Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown
            RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Corcia P,
            Vourc'h P, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA,
            Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH and
            Veldink JH.
  CONSRTM   PARALS Registry; SLALOM Group; SLAP Registry; FALS Sequencing
            Consortium; SLAGEN Consortium; NNIPPS Study Group
  TITLE     Genome-wide association analyses identify new risk variants and the
            genetic architecture of amyotrophic lateral sclerosis
  JOURNAL   Nat Genet 48 (9), 1043-1048 (2016)
   PUBMED   27455348
  REMARK    GeneRIF: Mutation in C21ORF2 gene is associated with amyotrophic
            lateral sclerosis.
REFERENCE   4  (residues 1 to 375)
  AUTHORS   Suga A, Mizota A, Kato M, Kuniyoshi K, Yoshitake K, Sultan W,
            Yamazaki M, Shimomura Y, Ikeo K, Tsunoda K and Iwata T.
  TITLE     Identification of Novel Mutations in the LRR-Cap Domain of C21orf2
            in Japanese Patients With Retinitis Pigmentosa and Cone-Rod
            Dystrophy
  JOURNAL   Invest Ophthalmol Vis Sci 57 (10), 4255-4263 (2016)
   PUBMED   27548899
  REMARK    GeneRIF: reduced levels of functional C21orf2 induced photoreceptor
            degradation through abnormal cilia formation, leading to arRP or
            arCRD in the retina.
REFERENCE   5  (residues 1 to 375)
  AUTHORS   Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T,
            Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A,
            Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou
            I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G and
            Ikegawa S.
  TITLE     Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
  JOURNAL   PLoS One 11 (3), e0150555 (2016)
   PUBMED   26974433
  REMARK    GeneRIF: Analysis of patients without C21orf2 mutation indicated
            genetic heterogeneity of axial SMD. Functional data in chondrocyte
            suggest C21orf2 is implicated in cartilage differentiation
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 375)
  AUTHORS   Shim KS, Bergelson JM, Furuse M, Ovod V, Krude T and Lubec G.
  TITLE     Reduction of chromatin assembly factor 1 p60 and C21orf2 protein,
            encoded on chromosome 21, in Down syndrome brain
  JOURNAL   J Neural Transm Suppl (67), 117-128 (2003)
   PUBMED   15068244
  REMARK    GeneRIF: Downregulated protein level of C21orf2 in adult brain of
            patients with Down syndrome (DS) in contrast to Alzheimer's disease
            indicates that it can be considered specific for changes in DS.
REFERENCE   7  (residues 1 to 375)
  AUTHORS   Cheon MS, Kim SH, Ovod V, Kopitar Jerala N, Morgan JI, Hatefi Y,
            Ijuin T, Takenawa T and Lubec G.
  TITLE     Protein levels of genes encoded on chromosome 21 in fetal Down
            syndrome brain: challenging the gene dosage effect hypothesis (Part
            III)
  JOURNAL   Amino Acids 24 (1-2), 127-134 (2003)
   PUBMED   12624744
REFERENCE   8  (residues 1 to 375)
  AUTHORS   Scott HS, Kyriakou DS, Peterson P, Heino M, Tahtinen M, Krohn K,
            Chen H, Rossier C, Lalioti MD and Antonarakis SE.
  TITLE     Characterization of a novel gene, C21orf2, on human chromosome
            21q22.3 and its exclusion as the APECED gene by mutation analysis
  JOURNAL   Genomics 47 (1), 64-70 (1998)
   PUBMED   9465297
REFERENCE   9  (residues 1 to 375)
  AUTHORS   Krohn K, Ovod V, Vilja P, Heino M, Scott H, Kyriakou DS,
            Antonarakis S, Jacobs HT, Isola J and Peterson P.
  TITLE     Immunochemical characterization of a novel mitochondrially located
            protein encoded by a nuclear gene within the DFNB8/10 critical
            region on 21q22.3
  JOURNAL   Biochem Biophys Res Commun 238 (3), 806-810 (1997)
   PUBMED   9325172
REFERENCE   10 (residues 1 to 375)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301623
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC031300.1 and Y11392.1.
            
            Summary: Four alternatively spliced transcript variants encoding
            four different isoforms have been found for this nuclear gene. All
            isoforms contain leucine-rich repeats. Three of these isoforms are
            mitochondrial proteins and one of them lacks the target peptide, so
            is not located in mitochondrion. This gene is down-regulated in
            Down syndrome (DS) brain, which may represent mitochondrial
            dysfunction in DS patients. [provided by RefSeq, Sep 2012].
            
            Transcript Variant: This variant (3) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1. The
            resulting isoform (3) has an additional segment in the C-terminal
            region, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC031300.1, DRR138524.552144.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..375
                     /product="nuclear encoded mitochondrial protein C21orf2
                     isoform 3"
                     /note="nuclear encoded mitochondrial protein C21orf2;
                     leucine rich repeat containing 76; leucine-rich
                     repeat-containing protein 76; C21orf-HUMF09G8.5"
                     /calculated_mol_wt=38864
     transit_peptide 1..13
                     /calculated_mol_wt=1576
     mat_peptide     14..375
                     /product="nuclear encoded mitochondrial protein C21orf2
                     isoform 3"
                     /calculated_mol_wt=38864
     Region          19..59
                     /region_name="LRR_4"
                     /note="Leucine Rich repeats (2 copies); pfam12799"
                     /db_xref="CDD:432794"
     Region          19..40
                     /region_name="LRR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (O43822.1)"
     Region          <40..130
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          41..62
                     /region_name="LRR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (O43822.1)"
     Region          42..63
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275382"
     Region          63..84
                     /region_name="LRR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (O43822.1)"
     Region          64..87
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275382"
     Region          89..117
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275382"
     Region          129..156
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43822.1)"
     Site            136
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43822.1)"
     Site            177
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (O43822.1)"
     CDS             1..375
                     /gene="CFAP410"
                     /gene_synonym="C21orf2; LRRC76; RDMS; SMDAX; YF5/A2"
                     /coded_by="NM_001271441.2:197..1324"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS59444.1"
                     /db_xref="GeneID:755"
                     /db_xref="HGNC:HGNC:1260"
                     /db_xref="MIM:603191"
ORIGIN      
        1 mkltrkmvlt rakaselhsv rklncwgsrl tdisicqemp slevitlsvn sistlepvsr
       61 cqrlselylr rnripslael fylkglprlr vlwlaenpcc gtsphryrmt vlrtlprlqk
      121 ldnqavteee lsralsegee itaaperegt ghggpklcct lsslssaaet grdpldseee
      181 atgaqdergl kppsrgqfps lsardasssh rgrvsggplg aaaasahcth ctetvgrehg
      241 asqgpvgreh gasqgleelc prgscvcgsv nahtrvtrap hgavlapqpl llswsvecgp
      301 gpcwaegnrs hveevphtrp qagllcsdsp svpnvltail lllreldaeg leavqqtvgs
      361 rlqalrgeev qehae
//
LOCUS       NP_996557               1123 aa            linear   PRI 16-MAR-2023
DEFINITION  myosin-binding protein C, slow-type isoform 4 [Homo sapiens].
ACCESSION   NP_996557
VERSION     NP_996557.1
DBSOURCE    REFSEQ: accession NM_206821.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1123)
  AUTHORS   Liu J, Song J and Li C.
  TITLE     MYBPC1 is a key regulator for laryngeal carcinoma formation
  JOURNAL   Anticancer Drugs 34 (1), 1-8 (2023)
   PUBMED   36539363
  REMARK    GeneRIF: MYBPC1 is a key regulator for laryngeal carcinoma
            formation.
REFERENCE   2  (residues 1 to 1123)
  AUTHORS   Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J,
            Stong N, Smith E, Jasien J, Kranz P, Lee Y, Shin YB, Wright NT,
            Choi M and Kontrogianni-Konstantopoulos A.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     Heterozygous variants in MYBPC1 are associated with an expanded
            neuromuscular phenotype beyond arthrogryposis
  JOURNAL   Hum Mutat 40 (8), 1115-1126 (2019)
   PUBMED   31264822
  REMARK    GeneRIF: Data substantiate that damaging variants in MYBPC1 are
            associated with a new form of an early-onset myopathy with tremor,
            which is a defining and consistent characteristic in all affected
            individuals, with no contractures. Recognition of this expanded
            myopathic phenotype can enable identification of individuals with
            MYBPC1 variants without arthrogryposis.
REFERENCE   3  (residues 1 to 1123)
  AUTHORS   Stavusis J, Lace B, Schafer J, Geist J, Inashkina I, Kidere D,
            Pajusalu S, Wright NT, Saak A, Weinhold M, Haubenberger D, Jackson
            S, Kontrogianni-Konstantopoulos A and Bonnemann CG.
  TITLE     Novel mutations in MYBPC1 are associated with myogenic tremor and
            mild myopathy
  JOURNAL   Ann Neurol 86 (1), 129-142 (2019)
   PUBMED   31025394
  REMARK    GeneRIF: Two novel missense mutations in MYBPC1 were linked to a
            dominant, mild skeletal myopathy associated with a distinctive
            tremor.
REFERENCE   4  (residues 1 to 1123)
  AUTHORS   Harris SP, Belknap B, Van Sciver RE, White HD and Galkin VE.
  TITLE     C0 and C1 N-terminal Ig domains of myosin binding protein C exert
            different effects on thin filament activation
  JOURNAL   Proc Natl Acad Sci U S A 113 (6), 1558-1563 (2016)
   PUBMED   26831109
  REMARK    GeneRIF: Ca(2+) modulates the interaction of cMyBP-C with the thin
            filament in the sarcomere.
REFERENCE   5  (residues 1 to 1123)
  AUTHORS   Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M,
            Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC and
            Dobbs MB.
  TITLE     Myosin binding protein C1: a novel gene for autosomal dominant
            distal arthrogryposis type 1
  JOURNAL   Hum Mol Genet 19 (7), 1165-1173 (2010)
   PUBMED   20045868
  REMARK    GeneRIF: These findings reveal that the MYBPC1 is a novel gene
            responsible for DA1, though the mechanism of disease may differ
            from how some cardiac MYBPC3 mutations cause hypertrophic
            cardiomyopathy.
REFERENCE   6  (residues 1 to 1123)
  AUTHORS   Welikson RE and Fischman DA.
  TITLE     The C-terminal IgI domains of myosin-binding proteins C and H
            (MyBP-C and MyBP-H) are both necessary and sufficient for the
            intracellular crosslinking of sarcomeric myosin in transfected
            non-muscle cells
  JOURNAL   J Cell Sci 115 (Pt 17), 3517-3526 (2002)
   PUBMED   12154082
REFERENCE   7  (residues 1 to 1123)
  AUTHORS   Alyonycheva TN, Mikawa T, Reinach FC and Fischman DA.
  TITLE     Isoform-specific interaction of the myosin-binding proteins (MyBPs)
            with skeletal and cardiac myosin is a property of the C-terminal
            immunoglobulin domain
  JOURNAL   J Biol Chem 272 (33), 20866-20872 (1997)
   PUBMED   9252413
REFERENCE   8  (residues 1 to 1123)
  AUTHORS   Weber FE, Vaughan KT, Reinach FC and Fischman DA.
  TITLE     Complete sequence of human fast-type and slow-type muscle
            myosin-binding-protein C (MyBP-C). Differential expression,
            conserved domain structure and chromosome assignment
  JOURNAL   Eur J Biochem 216 (2), 661-669 (1993)
   PUBMED   8375400
REFERENCE   9  (residues 1 to 1123)
  AUTHORS   Furst DO, Vinkemeier U and Weber K.
  TITLE     Mammalian skeletal muscle C-protein: purification from bovine
            muscle, binding to titin and the characterization of a full-length
            human cDNA
  JOURNAL   J Cell Sci 102 (Pt 4), 769-778 (1992)
   PUBMED   1429890
REFERENCE   10 (residues 1 to 1123)
  AUTHORS   Johnston,L.H., Barker,D.G. and Nurse,P.
  TITLE     Cloning and characterization of the Schizosaccharomyces pombe DNA
            ligase gene CDC17
  JOURNAL   Gene 41 (2-3), 321-325 (1986)
   PUBMED   3011605
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090671.5, AC117505.6 and
            AC010205.6.
            
            Summary: This gene encodes a member of the myosin-binding protein C
            family. Myosin-binding protein C family members are
            myosin-associated proteins found in the cross-bridge-bearing zone
            (C region) of A bands in striated muscle. The encoded protein is
            the slow skeletal muscle isoform of myosin-binding protein C and
            plays an important role in muscle contraction by recruiting
            muscle-type creatine kinase to myosin filaments. Mutations in this
            gene are associated with distal arthrogryposis type I.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Dec
            2011].
            
            Transcript Variant: This variant (4) lacks three exons in the
            coding region compared to variant 1. The encoded isoform (4) is
            shorter and has a distinct C-terminus, compared to variant 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC092418.1, X73114.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153427, SAMEA2158800
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1123
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.2"
     Protein         1..1123
                     /product="myosin-binding protein C, slow-type isoform 4"
                     /note="skeletal muscle C-protein; slow MyBP-C; myosin
                     binding protein C, slow type; slow skeletal-type muscle
                     myosin-binding-protein C"
                     /calculated_mol_wt=126329
     Region          1..51
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00872.2)"
     Region          59..159
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          75..79
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          91..95
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          125..129
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          139..144
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          152..155
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          209..242
                     /region_name="THB"
                     /note="Tri-helix bundle domain; pfam18362"
                     /db_xref="CDD:436437"
     Region          256..337
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          270..274
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          282..286
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          307..311
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          321..326
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          330..333
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          344..428
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          359..363
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          371..375
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          398..402
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Site            406
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q63518; propagated from
                     UniProtKB/Swiss-Prot (Q00872.2)"
     Region          412..417
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          421..424
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          434..>501
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          486..490
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          531..616
                     /region_name="Ig_C5_MyBP-C"
                     /note="C5 immunoglobulin (Ig) domain of cardiac myosin
                     binding protein C (MyBP-C); cd05894"
                     /db_xref="CDD:409475"
     Region          534..538
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409475"
     Region          542..549
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409475"
     Region          555..562
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409475"
     Region          563..565
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409475"
     Region          573..579
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409475"
     Region          580..587
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409475"
     Region          595..603
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409475"
     Region          606..616
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409475"
     Site            611
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q63518; propagated from
                     UniProtKB/Swiss-Prot (Q00872.2)"
     Region          620..710
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(620,686,701)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(702..703,705..706)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          719..803
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            780
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q63518; propagated from
                     UniProtKB/Swiss-Prot (Q00872.2)"
     Site            805
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q63518; propagated from
                     UniProtKB/Swiss-Prot (Q00872.2)"
     Region          830..910
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          839..843
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          852..856
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          876..880
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          890..895
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          903..906
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          914..997
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(914,979,994)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          1029..1118
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1046..1050
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1059..1063
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1084..1088
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1098..1103
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..1123
                     /gene="MYBPC1"
                     /gene_synonym="CMYP16; LCCS4; MYBPCC; MYBPCS; MYOTREM;
                     ssMyBP-C"
                     /coded_by="NM_206821.4:101..3472"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS55877.1"
                     /db_xref="GeneID:4604"
                     /db_xref="HGNC:HGNC:7549"
                     /db_xref="MIM:160794"
ORIGIN      
        1 mpeptkkeen evpapapppe epskekeagt tpakdwtlve tppgeeqakq nansqlsilf
       61 iekpqggtvk vgeditfiak vkaedllrkp tikwfkgkwm dlaskagkhl qlketferhs
      121 rvytfemqii kakdnfagny rcevtykdkf dscsfdlevh estgttpnid irsafkrsge
      181 gqedageldf sgllkrrevk qqeeepqvdv wellknakps eyekiafqyg itdlrgmlkr
      241 lkrmrreekk saafakildp ayqvdkggrv rfvveladpk levkwykngq eirpstkyif
      301 ehkgcqrilf inncqmtdds eyyvtagdek cstelfvrep pimvtkqled ttaycgerve
      361 lecevsedda nvkwfkngee iipgpksryr irvegkkhil iiegatkada aeysvmttgg
      421 qssaklsvdl kplkiltplt dqtvnlgkei clkceiseni pgkwtknglp vqesdrlkvv
      481 hkgrihklvi analtedegd yvfapdaynv tlpakvhvid ppkiildgld adntvtviag
      541 nklrleipis gepppkamws rgdkaimegs grirtesypd sstlvidiae rddsgvyhin
      601 lkneageaha sikvkvvdfp dppvaptvte vgddwcimnw eppaydggsp ilgyfierkk
      661 kqssrwmrln fdlckettfe pkkmiegvay evrifavnai giskpsmpsr pfvplavtsp
      721 ptlltvdsvt dttvtmrwrp pdhigaagld gyvleycfeg tedwivankd lidktkftit
      781 glptdakifv rvkavnaaga sepkyysqpi lvkeiieppk iriprhlkqt yirrvgeavn
      841 lvipfqgkpr peltwkkdga eidknqinir nsetdtiifi rkaershsgk ydlqvkvdkf
      901 vetasidiqi idrpgppqiv kiedvwgenv altwtppkdd gnaaitgyti qkadkksmew
      961 ftviehyhrt satitelvig neyyfrvfse nmcglsedat mtkesaviar dgkiyknpvy
     1021 edfdfseapm ftqplvntya iagynatlnc svrgnpkpki twmknkvaiv ddpryrmfsn
     1081 qgvctleirk pspydggtyc ckavndlgtv eiecklevkv iaq
//
LOCUS       NP_620578                325 aa            linear   PRI 18-MAR-2023
DEFINITION  hereditary hemochromatosis protein isoform 9 precursor [Homo
            sapiens].
ACCESSION   NP_620578
VERSION     NP_620578.1
DBSOURCE    REFSEQ: accession NM_139009.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 325)
  AUTHORS   Hubacek JA, Philipp T, Adamkova V, Majek O and Dusek L.
  TITLE     A haemochromatosis-causing HFE mutation is associated with
            SARS-CoV-2 susceptibility in the Czech population
  JOURNAL   Clin Chim Acta 538, 211-215 (2023)
   PUBMED   36572138
  REMARK    GeneRIF: A haemochromatosis-causing HFE mutation is associated with
            SARS-CoV-2 susceptibility in the Czech population.
REFERENCE   2  (residues 1 to 325)
  AUTHORS   Natarajan Y, Patel P, Chu J, Yu X, Hernaez R, El-Serag H and Kanwal
            F.
  TITLE     Risk of Hepatocellular Carcinoma in Patients with Various HFE
            Genotypes
  JOURNAL   Dig Dis Sci 68 (1), 312-322 (2023)
   PUBMED   35790703
  REMARK    GeneRIF: Risk of Hepatocellular Carcinoma in Patients with Various
            HFE Genotypes.
REFERENCE   3  (residues 1 to 325)
  AUTHORS   Pilling LC, Atkins JL and Melzer D.
  TITLE     Genetic modifiers of penetrance to liver endpoints in HFE
            hemochromatosis: Associations in a large community cohort
  JOURNAL   Hepatology 76 (6), 1735-1745 (2022)
   PUBMED   35567766
REFERENCE   4  (residues 1 to 325)
  AUTHORS   Infanti L, Leitner G, Moe MK, Pehlic V, Benkert P, Cattaneo M,
            Holbro A, Passweg J, Worel N and Buser A.
  TITLE     Indices of iron homeostasis in asymptomatic subjects with HFE
            mutations and moderate ferritin elevation during iron removal
            treatment
  JOURNAL   Blood Cells Mol Dis 97, 102689 (2022)
   PUBMED   35780678
  REMARK    GeneRIF: Indices of iron homeostasis in asymptomatic subjects with
            HFE mutations and moderate ferritin elevation during iron removal
            treatment.
REFERENCE   5  (residues 1 to 325)
  AUTHORS   Dissanayake R, Samarasinghe N, Waidyanatha S, Pathirana S,
            Neththikumara N, Dissanayake VHW, Wetthasinghe K, Gooneratne L and
            Wickramasinghe P.
  TITLE     Assessment of iron overload in a cohort of Sri Lankan patients with
            transfusion dependent beta thalassaemia and its correlation with
            pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes
  JOURNAL   BMC Pediatr 22 (1), 344 (2022)
   PUBMED   35705926
  REMARK    GeneRIF: Assessment of iron overload in a cohort of Sri Lankan
            patients with transfusion dependent beta thalassaemia and its
            correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2
            genes.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 325)
  AUTHORS   Barton,J.C. and Edwards,C.Q.
  TITLE     HFE Hemochromatosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301613
REFERENCE   7  (residues 1 to 325)
  AUTHORS   Geraghty DE, Koller BH, Pei J and Hansen JA.
  TITLE     Examination of four HLA class I pseudogenes. Common events in the
            evolution of HLA genes and pseudogenes
  JOURNAL   J Immunol 149 (6), 1947-1956 (1992)
   PUBMED   1517564
REFERENCE   8  (residues 1 to 325)
  AUTHORS   Dugast IJ, Papadopoulos P, Zappone E, Jones C, Theriault K,
            Handelman GJ, Benarous R and Drysdale JW.
  TITLE     Identification of two human ferritin H genes on the short arm of
            chromosome 6
  JOURNAL   Genomics 6 (2), 204-211 (1990)
   PUBMED   2307464
REFERENCE   9  (residues 1 to 325)
  AUTHORS   Walsh,C.H. and Malins,J.M.
  TITLE     Proliferative retinopathy in a patient with diabetes mellitus and
            idiopathic haemochromatosis
  JOURNAL   Br Med J 2 (6129), 16-17 (1978)
   PUBMED   678784
REFERENCE   10 (residues 1 to 325)
  AUTHORS   Markert,R.
  TITLE     [Biochemical studies and biopsy examination in the evaluation of
            liver function in cholelithiasis]
  JOURNAL   Pol Tyg Lek 32 (27), 1041-1042 (1977)
   PUBMED   896549
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ249335.1 and U91328.1.
            
            Summary: The protein encoded by this gene is a membrane protein
            that is similar to MHC class I-type proteins and associates with
            beta2-microglobulin (beta2M). It is thought that this protein
            functions to regulate iron absorption by regulating the interaction
            of the transferrin receptor with transferrin. The iron storage
            disorder, hereditary haemochromatosis, is a recessive genetic
            disorder that results from defects in this gene. [provided by
            RefSeq, May 2022].
            
            Transcript Variant: This variant (9) lacks an internal in-frame
            segment of the coding region through the use of an alternate splice
            acceptor site, as compared to variant 1, resulting in a shorter
            protein (isoform 9).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ249335.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..325
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.2"
     Protein         1..325
                     /product="hereditary hemochromatosis protein isoform 9
                     precursor"
                     /note="high Fe; MHC class I-like protein HFE; hereditary
                     hemochromatosis protein HLA-H"
                     /calculated_mol_wt=35169
     sig_peptide     1..22
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2363
     mat_peptide     23..325
                     /product="hereditary hemochromatosis protein isoform 9"
                     /calculated_mol_wt=35169
     CDS             1..325
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /coded_by="NM_139009.3:13..990"
                     /note="isoform 9 precursor is encoded by transcript
                     variant 9"
                     /db_xref="CCDS:CCDS47387.1"
                     /db_xref="GeneID:3077"
                     /db_xref="HGNC:HGNC:4886"
                     /db_xref="MIM:613609"
ORIGIN      
        1 mgprarpall llmllqtavl qgrllplgyv ddqlfvfydh esrrveprtp wvssrissqm
       61 wlqlsqslkg wdhmftvdfw timenhnhsk eshtlqvilg cemqednste gywkygydgq
      121 dhlefcpdtl dwraaepraw ptklewerhk irarqnrayl erdcpaqlqq llelgrgvld
      181 qqvpplvkvt hhvtssvttl rcralnyypq nitmkwlkdk qpmdakefep kdvlpngdgt
      241 yqgwitlavp pgeeqrytcq vehpgldqpl iviwepspsg tlvigvisgi avfvvilfig
      301 ilfiilrkrq gsrgamghyv laere
//
LOCUS       XP_011539784             694 aa            linear   PRI 20-MAR-2023
DEFINITION  protein zyg-11 homolog A isoform X3 [Homo sapiens].
ACCESSION   XP_011539784
VERSION     XP_011539784.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011541482.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..694
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..694
                     /product="protein zyg-11 homolog A isoform X3"
                     /calculated_mol_wt=78151
     Region          158..182
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          183..206
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          207..229
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          230..257
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          258..286
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          287..312
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     CDS             1..694
                     /gene="ZYG11A"
                     /gene_synonym="ZYG11"
                     /coded_by="XM_011541482.4:125..2209"
                     /db_xref="GeneID:440590"
                     /db_xref="HGNC:HGNC:32058"
                     /db_xref="MIM:618675"
ORIGIN      
        1 mvhflhpght prnivppdaq kdalgccvvq eeaspytlvn iclnvlianl eklcserpdg
       61 tlclpehwsf pqevaerflr vmtwqgkltd rtasifrgnq mklklvniqk akistaafik
      121 afcrhkliel natavhadlp vpdiisglcs nrwiqqnlqc llldstsipq nsrllffsql
      181 tglrilsvfn vcfhtedlan vsqlprlesl disntlvtdi salltckdrl ksltmhylkc
      241 lamtksqila virelkcllh ldisdhrqlk sdlafhllqq kdilpnvvsl disggncitd
      301 eavelfirlr pamqfvglla tdagssdfft tkqglrvagg asmsqiseal sryrnrscfv
      361 kealhrlfte tfsmevtmpa ilklvaigmr nhpldlrvqf tasacalnlt rqglakgmpv
      421 rllsevtcll fkalknfphy qqlqknclls ltnsrilvdv pfdrfdaakf vmrwlckhen
      481 pkmqtmavsv tsilalqlsp eqtaqleelf mavkellaiv kqkttenldd vtflftlkal
      541 wnltdgspaa ckhfienqgl qifiqvletf sesaiqskvl gllhatiqnw psssckmtal
      601 vtyrsfktff pllgnfsqpe vqlwalwamy hvcsknpsky ckmlveeegl qllcdiqehs
      661 eatpkaqqia asilddfrmh fmnyqrptlc qmpf
//
LOCUS       XP_047281864             361 aa            linear   PRI 20-MAR-2023
DEFINITION  outer mitochondrial transmembrane helix translocase isoform X1
            [Homo sapiens].
ACCESSION   XP_047281864
VERSION     XP_047281864.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425908.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..361
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..361
                     /product="outer mitochondrial transmembrane helix
                     translocase isoform X1"
                     /calculated_mol_wt=40613
     Region          92..257
                     /region_name="RecA-like_ATAD1"
                     /note="ATPase domain of ATPase family AAA
                     domain-containing protein 1 and similar ATPase domains;
                     cd19520"
                     /db_xref="CDD:410928"
     Site            order(93..96,135..141)
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:410928"
     Region          282..321
                     /region_name="AAA_lid_3"
                     /note="AAA+ lid domain; pfam17862"
                     /db_xref="CDD:436099"
     CDS             1..361
                     /gene="ATAD1"
                     /gene_synonym="AFDC1; FNP001; hATAD1; HKPX4; Msp1;
                     THORASE"
                     /coded_by="XM_047425908.1:338..1423"
                     /db_xref="GeneID:84896"
                     /db_xref="HGNC:HGNC:25903"
                     /db_xref="MIM:614452"
ORIGIN      
        1 mvhaeafsrp lsrnevvgli frltifgavt yftikwmvda idptrkqkve aqkqaeklmk
       61 qigvknvkls eyemsiaahl vdplnmhvtw sdiaglddvi tdlkdtvilp ikkkhlfens
      121 rllqppkgvl lygppgcgkt liakatakea gcrfinlqps tltdkwyges qklaaavfsl
      181 aiklqpsiif ideidsflrn rsssdheata mmkaqfmslw dgldtdhscq vivmgatnrp
      241 qdldsaimrr mptrfhinqp alkqreailk lilknenvdr hvdllevaqe tdgfsgsdlk
      301 emcrdaallc vreyvnstse eshdedeirp vqqqdlhrai ekmkkskdaa fqnvlthvcl
      361 d
//
LOCUS       XP_047285933             517 aa            linear   PRI 20-MAR-2023
DEFINITION  vegetative cell wall protein gp1-like [Homo sapiens].
ACCESSION   XP_047285933
VERSION     XP_047285933.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429977.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 41% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..517
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..517
                     /product="vegetative cell wall protein gp1-like"
                     /calculated_mol_wt=52978
     Region          <17..476
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..517
                     /gene="LOC124903090"
                     /coded_by="XM_047429977.1:1..1554"
                     /db_xref="GeneID:124903090"
ORIGIN      
        1 mppsmlpfpl afptgepggp ydlppnipwv pspmsqhppr pllcvraspa spassplcpg
       61 iprilcpvsr hpphplpcvp aspacvpcit spvsrhrlpc vprilcpvsp assplcpgip
      121 rvlspvsqhp prplpcvpas passplcpgi prvlspvsrh pprplpcvpa spassplcpg
      181 iprvlspvsr hpprplpcvr aspvspassp lcpgiprvls pvsrhpprpl pcvpaspass
      241 plcpgiprvl spvsrhpprp lpcvpaspas splcpgiprv lspvsrhppr plpcvpaspa
      301 ssplcpgipr vlspvsrhpp rplpcvpasp assplcpgip rvlspvsrhp prplpcvpas
      361 passplcpgi pcvprilspv srhpprplpc vpaspasspl cpgiprvlsp vsrhpprplp
      421 cvpaspassp lcpgiprvls pvsrhpprpl pcvpaspass plcpgiprvl spvsrhpprp
      481 lpcvpaspvs passplcpgi prilspvsla fsvsspl
//
LOCUS       XP_047290558             523 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 213 isoform X1 [Homo sapiens].
ACCESSION   XP_047290558
VERSION     XP_047290558.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434602.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..523
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..523
                     /product="zinc finger protein 213 isoform X1"
                     /calculated_mol_wt=57792
     Region          105..209
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Region          266..301
                     /region_name="KRAB_A-box"
                     /note="KRAB (Kruppel-associated box) domain -A box;
                     cd07765"
                     /db_xref="CDD:143639"
     Region          <379..515
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          383..403
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(388,390,392,394..395,398..399,402,416,418,422..423,
                     426..427,430,444,446,448,450..451,454..455,458)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          411..431
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          439..459
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          467..487
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          495..515
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..523
                     /gene="ZNF213"
                     /gene_synonym="CR53; ZKSCAN21; ZSCAN53"
                     /coded_by="XM_047434602.1:1631..3202"
                     /db_xref="GeneID:7760"
                     /db_xref="HGNC:HGNC:13005"
                     /db_xref="MIM:608387"
ORIGIN      
        1 malqpgvcsc iphpsssvlp fcsfprsthp daspattgdp sgrlkvqvlg prlkptnpep
       61 qargmaaple aqdqapgege gllivkveds sweqesaqhe dgrdseacrq rfrqfcygdv
      121 hgpheafsql welccrwlrp elrtkeqile llvleqfltv lpgeiqgwvr eqhpgsgeea
      181 valvedlqkq pvkawrqdvp seeaepeaag rgsqatgppp tvgarrrpsv pqeqhshsaq
      241 ppallkegrp gettdtcfvs gvhgpvalgd ipfyfsreew gtldpaqrdl fwdikrensr
      301 nttlgfglkg qseksllqem vpvvpgqtgs dvtvswspee aeawesenrp raalgpvvga
      361 rrgrpptrrr qfrdlaaekp hscgqcgkrf rwgsdlarhq rthtgekphk cpecdksfrs
      421 ssdlvrhqgv htgekpfscs ecgksfsrsa yladhqriht gekpfgcsdc gksfslrsyl
      481 ldhrrvhtge rpfgcgecdk sfkqrahlia hqslhakmaq pvg
//
LOCUS       XP_047291694            1362 aa            linear   PRI 20-MAR-2023
DEFINITION  protein TANC2 isoform X18 [Homo sapiens].
ACCESSION   XP_047291694
VERSION     XP_047291694.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435738.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1362
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1362
                     /product="protein TANC2 isoform X18"
                     /calculated_mol_wt=150633
     Region          841..1009
                     /region_name="ANKYR"
                     /note="Ankyrin repeat [Signal transduction mechanisms];
                     COG0666"
                     /db_xref="CDD:223738"
     Region          926..952
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(927..928,931..933,935..936,940,943,952,954,956,
                     960..961,964..966,968..969,973,976,985,987,989,993..994,
                     997..999,1001..1002,1006,1009)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          933..1011
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          954..985
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1046..>1266
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          1071..1101
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1103..1134
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1137..1167
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(1138,1142..1143,1146..1148,1150..1151,1155,1158,
                     1167,1169,1171,1175..1176,1179..1181,1183..1184,1188,1191,
                     1200,1202,1204,1208..1209,1212..1214,1216..1217,1221,1224,
                     1233)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          1141..1227
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          1169..1200
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1202..1233
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1235..1260
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..1362
                     /gene="TANC2"
                     /gene_synonym="IDDALDS; rols; ROLSA"
                     /coded_by="XM_047435738.1:539..4627"
                     /db_xref="GeneID:26115"
                     /db_xref="HGNC:HGNC:30212"
                     /db_xref="MIM:615047"
ORIGIN      
        1 mfrnslkmll tggkssrknr ssdggseepp drrqssvdsr qsrsgqggis tesdcafepd
       61 yavpplpvse gmqhirimeg msrslpsspl lthqsisvrl qpvkkltgda eqelgpppsv
      121 deaantlmtr lgfllgekvt evqpgdqysm evqdenqtsa itqrispcst ltsstasppa
      181 sspcstlppi stnatakdcs ygavtsptst lesrdsgiia tltsysenve rtkyagessk
      241 elgsggnikp wqsqkssmds clyrvdenmt astyslnkip ernletvlsq svqsiplylm
      301 prpnsvaats sahledlayl deqrhtplrt slrmprqsmg gartqqdlrv rfapyrppdi
      361 slkpllfevp sittesvfvg rdwvfheida qlqssnasvn qgvvivgnig fgktaiisrl
      421 valschgtrm rqiasdspha spkhvdanre lpltqppsah ssitsgscpg tpemrrrqee
      481 amrrlasqvv ayhycqadna ytclvpefvh nvaallcrsp qltayreqll rephlqsmls
      541 lrscvqdpma sfrrgvlepl enlhkerkip dedfiilidg lneaefhkpd ygdtivsfls
      601 kmigkfpswl klivtvrtsl qeitkllpfh rifldrleen eaidqdlqay ilhrihssse
      661 iqnnislngk mdnttfgkls shlktlsqgs ylylkltfdl iekgylvlks ssykvvpvsl
      721 sevyllqcnm kfptqssfdr vmpllnvava slhpltdehi fqainagsie gtlewedfqq
      781 rmenlsmfli krrdmtrmfv hpsfrewliw reegektkfl cdprsghtll afwfsrqegk
      841 lnrqqtielg hhilkahifk glskkvgvss silqglwisy steglsmala slrnlytpni
      901 kvsrllilgg aninyrtevl nnapilcvqs hlgytemval llefganvda ssesgltplg
      961 yaaaagylsi vvllckkrak vdhldkngqc alvhaalrgh levvkfliqc dwtmagqqqg
     1021 vfkkshaiqq aliaaasmgy teivsylldl pekdeeever aqinsfdslw getaltaaag
     1081 rgklevcrll leqgaavaqp nrrgavplfs tvrqghwqiv dlllthgadv nmadkqgrtp
     1141 lmmaaseghl gtvdfllaqg asialmdkeg ltalswaclk ghlsvvrslv dngaatdhad
     1201 kngrtpldla afygdaevvq flvdhgamie hvdysgmrpl dravgcrnts vvvtllkkga
     1261 kigpatwama tskpdimiil lsklmeegdm fykkgkvkea aqryqyalkk fpregfgedl
     1321 ktfrelkvsl llnlsrcrrk mntvrsslrg perghqavsq qp
//
LOCUS       XP_016858858             236 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 178A isoform X2 [Homo sapiens].
ACCESSION   XP_016858858
VERSION     XP_016858858.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017003369.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..236
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..236
                     /product="transmembrane protein 178A isoform X2"
                     /calculated_mol_wt=26180
     CDS             1..236
                     /gene="TMEM178A"
                     /gene_synonym="TMEM178"
                     /coded_by="XM_017003369.2:59..769"
                     /db_xref="GeneID:130733"
                     /db_xref="HGNC:HGNC:28517"
ORIGIN      
        1 mepralvtal slglslcslg llvtaiftdh wyetdprrhk escersraga dppdqknrlm
       61 plshlplrds pplgrrllpg gpgradpesw rsllglggld aecgrplfat ysglwrkcyf
      121 lgidrdidtl ilkgiaqrct aikyhfsqpi rlrnipfnlt ktiqqdewhl lhlrritagf
      181 lgmavavllc gcivatvsff weesltqhva gllflmtgca lsgqledhtq hetvps
//
LOCUS       XP_047296553             434 aa            linear   PRI 20-MAR-2023
DEFINITION  ectonucleoside triphosphate diphosphohydrolase 6 isoform X6 [Homo
            sapiens].
ACCESSION   XP_047296553
VERSION     XP_047296553.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440597.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..434
                     /product="ectonucleoside triphosphate diphosphohydrolase 6
                     isoform X6"
                     /calculated_mol_wt=46724
     Region          92..>300
                     /region_name="NBD_sugar-kinase_HSP70_actin"
                     /note="Nucleotide-Binding Domain of the sugar
                     kinase/HSP70/actin superfamily; cl17037"
                     /db_xref="CDD:450142"
     Site            order(104..107,109,111,221,248..251)
                     /site_type="other"
                     /note="nucleotide binding site [chemical binding]"
                     /db_xref="CDD:212657"
     CDS             1..434
                     /gene="ENTPD6"
                     /gene_synonym="CD39L2; dJ738P15.3; IL-6SAG; IL6ST2;
                     NTPDase-6"
                     /coded_by="XM_047440597.1:213..1517"
                     /db_xref="GeneID:955"
                     /db_xref="HGNC:HGNC:3368"
                     /db_xref="MIM:603160"
ORIGIN      
        1 mspagklrva vsgkqqpqhg pwqtrmrkis nhgslrvakv ayplglcvgv fiyvayikwh
       61 ratatqaffs itraapgarw gqqahsplgt aadghevfyg imfdagstgt rvhvfqftrp
      121 pretptlthe tfkalkpgls ayaddveksa qgirelldva kqdipfdfwk atplvlkata
      181 glrllpgeka qkllqkvkkv fkaspflvgd dcvsimngtd egvsawitin fltgslktpg
      241 gssvgmldlg ggstqiaflp rvegtlqasp pgyltalrmf nrtyklysys ylglglmsar
      301 lailggvegq paaslhelca arvsevlqnr vhrteevkhv dfyafsyyyd laagvglida
      361 ekggslvvgd feiaakyggs hleregtcli psvsdpgdta aeqpllmhgp hlrqpatpgv
      421 rlsqeqsaea hsen
//
LOCUS       XP_024307903             201 aa            linear   PRI 20-MAR-2023
DEFINITION  proteasome assembly chaperone 1 isoform X1 [Homo sapiens].
ACCESSION   XP_024307903
VERSION     XP_024307903.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024452135.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 10% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..201
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..201
                     /product="proteasome assembly chaperone 1 isoform X1"
                     /calculated_mol_wt=22794
     Region          <1..201
                     /region_name="PAC1"
                     /note="Proteasome assembly chaperone 4; pfam16094"
                     /db_xref="CDD:435132"
     CDS             1..201
                     /gene="PSMG1"
                     /gene_synonym="C21LRP; DSCR2; LRPC21; PAC-1; PAC1"
                     /coded_by="XM_024452135.2:414..1019"
                     /db_xref="GeneID:8624"
                     /db_xref="HGNC:HGNC:3043"
                     /db_xref="MIM:605296"
ORIGIN      
        1 mnsgvweevg caklwnewcr ttdtthlsst eafcvfyhlk snpsvflcqc scyvaedqqy
       61 qwlekvfgsc prknmqitil tcrhvtdykt sestgslpsp flralktqnf kdsaccplle
      121 qpnivhdlpa avlsycqvwk ipailylcyt dvmkldlitv eafkpilstr slkglvknip
      181 qsteilkklm ttneiqsniy t
//
LOCUS       XP_047273384            2605 aa            linear   PRI 20-MAR-2023
DEFINITION  teneurin-2 isoform X18 [Homo sapiens].
ACCESSION   XP_047273384
VERSION     XP_047273384.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417428.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2605
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..2605
                     /product="teneurin-2 isoform X18"
                     /calculated_mol_wt=288734
     Region          <4..212
                     /region_name="Ten_N"
                     /note="Teneurin Intracellular Region; pfam06484"
                     /db_xref="CDD:428971"
     Region          413..572
                     /region_name="DUF5885"
                     /note="Family of unknown function (DUF5885); pfam19232"
                     /db_xref="CDD:437064"
     Region          572..720
                     /region_name="Keratin_B2"
                     /note="Keratin, high sulfur B2 protein; pfam01500"
                     /db_xref="CDD:366678"
     Region          <593..634
                     /region_name="DSL"
                     /note="Delta serrate ligand; cl19567"
                     /db_xref="CDD:450329"
     Region          1078..1401
                     /region_name="NHL"
                     /note="NHL repeat unit of beta-propeller proteins;
                     cl18310"
                     /db_xref="CDD:302697"
     Region          1116..1165
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1189..1227
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1243..1284
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1307..1340
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1375..1401
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1513..1549
                     /region_name="RHS_repeat"
                     /note="RHS Repeat; pfam05593"
                     /db_xref="CDD:428530"
     Region          <1786..>2272
                     /region_name="RhsA"
                     /note="Uncharacterized conserved protein RhsA, contains 28
                     RHS repeats [General function prediction only]; COG3209"
                     /db_xref="CDD:225750"
     Region          2222..2298
                     /region_name="Rhs_assc_core"
                     /note="RHS repeat-associated core domain; TIGR03696"
                     /db_xref="CDD:274730"
     Region          2521..2598
                     /region_name="Tox-GHH"
                     /note="GHH signature containing HNH/Endo VII superfamily
                     nuclease toxin; pfam15636"
                     /db_xref="CDD:434826"
     CDS             1..2605
                     /gene="TENM2"
                     /gene_synonym="ODZ2; ten-2; TEN-M2; TEN2; TNM2"
                     /coded_by="XM_047417428.1:515..8332"
                     /db_xref="GeneID:57451"
                     /db_xref="HGNC:HGNC:29943"
                     /db_xref="MIM:610119"
ORIGIN      
        1 mklqngrpip ptsspsllps aqlpsshnpp pvscqmplld sntshqimdt npdeefspns
       61 yllracsgpq qasssgppnh hsqstlrppl ppphnhtlsh hhssanslnr nsltnrrsqi
      121 hapapapndl attpesvqlq dswvlnsnvp letrhflfkt ssgstplfss sspgypltsg
      181 tvytppprll prntfsrkaf klkkpskycs wkcaalsaia aalllailla yfiamhllgl
      241 nwqlqpadgh tfnngirtgl pgnddvatmp sggkvpwslk nssidsgeae vgrrvtqevp
      301 pgvfwrsqih isqpqflkfn islgkdalfg vyirrglpps haqydfmerl dgkekwsvve
      361 sprerrsiqt lvqneavfvq yldvglwhla fyndgkdkem vsfntvvlds vqdcprnchg
      421 ngecvsgvch cfpgflgadc akaacpvlcs gngqyskgtc qcysgwkgae cdvpmnqcid
      481 pscgghgsci dgncvcsagy kgehceevdc ldptcsshgv cvngeclcsp gwgglncela
      541 rvqcpdqcsg hgtylpdtgl cscdpnwmgp dcsvevcsvd cgthgvcigg acrceegwtg
      601 aacdqrvchp rciehgtckd gkcecregwn gehctigrqt agtetdgcpd lcngngrctl
      661 gqnswqcvcq tgwrgpgcnv ametscadnk dnegdglvdc ldpdcclqsa cqnsllcrgs
      721 rdpldiiqqg qtdwpavksf ydrikllagk dsthiipgen pfnsslvsli rgqvvttdgt
      781 plvgvnvsfv kypkygytit rqdgtfdlia nggasltlhf erapfmsqer tvwlpwnsfy
      841 amdtlvmkte ensipscdls gfvrpdpiii ssplstffsa apgqnpivpe tqvlheeiel
      901 pgsnvklryl ssrtagyksl lkitmtqstv plnlirvhlm vaveghlfqk sfqaspnlay
      961 tfiwdktday gqrvyglsda vvsvgfeyet cpslilwekr tallqgfeld psnlggwsld
     1021 khhilnvksg ilhkgtgenq fltqqpaiit simgngrrrs iscpscngla egnkllapva
     1081 lavgidgsly vgdfnyirri fpsrnvtsil elrnnpahky ylavdpvsgs lyvsdtnsrr
     1141 iyrvkslsgt kdlagnsevv agtgeqclpf dearcgdggk aidatlmspr giavdknglm
     1201 yfvdatmirk vdqngiistl lgsndltavr plscdssmdv aqvrlewptd lavnpmdnsl
     1261 yvlennvilr itenhqvsii agrpmhcqvp gidyslskla ihsalesasa iaishtgvly
     1321 itetdekkin rlrqvttnge icllagaasd cdckndvncn cysgddayat dailnspssl
     1381 avapdgtiyi adlgnirira vsknkpvlna fnqyeaaspg eqelyvfnad gihqytvslv
     1441 tgeylynfty stdndvteli dnngnslkir rdssgmprhl lmpdnqiitl tvgtngglkv
     1501 vstqnlelgl mtydgntgll atksdetgwt tfydydhegr ltnvtrptgv vtslhremek
     1561 sitidiensn rdddvtvitn lssveasytv vqdqvrnsyq lcnngtlrvm yangmgisfh
     1621 sephvlagti tptigrcnis lpmenglnsi ewrlrkeqik gkvtifgrkl rvhgrnllsi
     1681 dydrnirtek iyddhrkftl riiydqvgrp flwlpssgla avnvsyffng rlaglqrgam
     1741 sertdidkqg rivsrmfadg kvwsysyldk smvlllqsqr qyifeydssd rllavtmpsv
     1801 arhsmsthts igyirniynp pesnasvifd ysddgrilkt sflgtgrqvf ykygklskls
     1861 eivydstavt fgydettgvl kmvnlqsggf sctiryrkig plvdkqiyrf seegmvnarf
     1921 dytyhdnsfr iasikpvise tplpvdlyry deisgkvehf gkfgviyydi nqiittavmt
     1981 lskhfdthgr ikevqyemfr slmywmtvqy dsmgrvikre lklgpyantt kytydydgdg
     2041 qlqsvavndr ptwrysydln gnlhllnpgn svrlmplryd lrdritrlgd vqykidddgy
     2101 lcqrgsdife ynskglltra ynkasgwsvq yrydgvgrra syktnlghhl qyfysdlhnp
     2161 trithvynhs nseitslyyd lqghlfames ssgeeyyvas dntgtplavf singlmikql
     2221 qytaygeiyy dsnpdfqmvi gfhgglydpl tklvhftqrd ydvlagrwts pdytmwknvg
     2281 kepapfnlym fksnnplsse ldlknyvtdv kswlvmfgfq lsniipgfpr akmyfvpppy
     2341 elsesqasen gqlitgvqqt terhnqafma legqvitkkl hasirekagh wfatttpiig
     2401 kgimfaikeg rvttgvssia sedsrkvasv lnnayyldkm hysiegkdth yfvkigsadg
     2461 dlvtlgttig rkvlesgvnv tvsqptllvn grtrrftnie fqystlllsi rygltpdtld
     2521 eekarvldqa rqralgtawa keqqkardgr egsrlwtege kqqllstgrv qgyegyyvlp
     2581 veqypelads ssniqflrqn emgkr
//
LOCUS       XP_016869731             974 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 618 isoform X4 [Homo sapiens].
ACCESSION   XP_016869731
VERSION     XP_016869731.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014242.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..974
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..974
                     /product="zinc finger protein 618 isoform X4"
                     /calculated_mol_wt=107275
     Region          149..169
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          190..210
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..974
                     /gene="ZNF618"
                     /gene_synonym="FP13169; NEDD10"
                     /coded_by="XM_017014242.3:73..2997"
                     /db_xref="GeneID:114991"
                     /db_xref="HGNC:HGNC:29416"
                     /db_xref="MIM:617077"
ORIGIN      
        1 mnqpggaaap qadgasaagr kstasrerlk rsqkstkveg pepvpaeasl saeqgtmtev
       61 kvktelpddy iqeviwqgea keekkavskd gtsdvpaeic vviggvrnqq tldgkapegs
      121 phggsvrsry sgtwifdqal ryasgsyecg icgkkykyyn cfqthvrahr dteatsgega
      181 sqsnnfrytc dicgkkykyy scfqehrdlh avdvfsvega penradpfdq gvvatdevke
      241 eppepfqkig pmnnitsdif kkkevrqcqk retgnytcef cgkqykyytp yqehvalhap
      301 istapgwepp ddpdtgsecs hpevspsprf vaaktqtnqs gkkapasvvr catllhrtpp
      361 atqtqtfrtp nsgspaskat aaesafsrrv egkaqnhfee tnsssqnsse pytcgacgiq
      421 fqfynnlleh mqshaadnen niasnqsrsp pavveekwkp qaqrnsannt ttsgltpnsm
      481 ipekerqnia erllrvmcad lgalsvvsgk eflklaqtlv dsgarygafs vteilgnfnt
      541 lalkhlprmy nqvkvkvtca lgsnaclgig vtchsqsvgp dscyiltayq aegnhiksyv
      601 lgvkgadird sgdlvhhwvq nvlsefvmse irtvyvtdcr vstsafskag mclrcsacal
      661 nsvvqsvlsk rtlqarsmhe viellnvced lagstglake tfgsleetsp ppcwnsvtds
      721 lllvheryeq icefysrakk mnliqslnkh llsnlaailt pvkqaviels nesqptlqlv
      781 lptyvrlekl ftakandagt vsklchlfle alkenfkvhp ahkvamildp qqklrpvppy
      841 qheeiigkvc elinevkesw aeeadfepaa kkprsaaven paaqeddrlg knevydylqe
      901 plfqatpdlf qywscvtqkh tklaklafwl lavpavgars gcvnmceqal likrrrllsp
      961 edmnklmflk snml
//
LOCUS       XP_054186416             286 aa            linear   PRI 20-MAR-2023
DEFINITION  protein CLN8 isoform X1 [Homo sapiens].
ACCESSION   XP_054186416
VERSION     XP_054186416.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330441.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187680.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..286
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.3"
     Protein         1..286
                     /product="protein CLN8 isoform X1"
                     /calculated_mol_wt=32656
     CDS             1..286
                     /gene="CLN8"
                     /gene_synonym="C8orf61; EPMR; TLCD6"
                     /coded_by="XM_054330441.1:492..1352"
                     /db_xref="GeneID:2055"
                     /db_xref="HGNC:HGNC:2079"
                     /db_xref="MIM:607837"
ORIGIN      
        1 mnpasdggts esifdldyas wgirstlmva gfvfylgvfv vchqlsssln atyrslvare
       61 kvfwdlaatr avfgvqstaa glwallgdpv lhadkargqq nwcwfhitta tgffcfenva
      121 vhlsnlifrt fdlflvihhl faflgflgcl vnlqaghyla mttlllemst pftcvswmll
      181 kagwseslfw klnqwlmihm fhcrmvltyh mwwvcfwhwd glvsslylph ltlflvglal
      241 ltliinpywt hkktqqllnp vdwnfaqpea ksrpegngql lrkkrp
//
LOCUS       XP_054190331            4565 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein axonemal heavy chain 14 isoform X8 [Homo sapiens].
ACCESSION   XP_054190331
VERSION     XP_054190331.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334356.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4565
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..4565
                     /product="dynein axonemal heavy chain 14 isoform X8"
                     /calculated_mol_wt=523700
     CDS             1..4565
                     /gene="DNAH14"
                     /gene_synonym="C1orf67; Dnahc14; HL-18; HL18"
                     /coded_by="XM_054334356.1:216..13913"
                     /db_xref="GeneID:127602"
                     /db_xref="HGNC:HGNC:2945"
                     /db_xref="MIM:603341"
ORIGIN      
        1 metfipidlt tenqemdkee tktkprllry eekkyedvkp letqpaeiae ketleyktvr
       61 tfseslksek tedylresii qqhmvspepa slkekgksrr kkdqthacpn vrkarpvsyd
      121 rtepkdddvi rniirlrekl gwqtilpqhs lkygsskiai qkitlkkple ddgefvyclp
      181 rkspkslynp ydlqvvsaht akhckefwvi tasfiskvin ivgsvkevel iptlewlser
      241 rhyyllrqfk ifsdfrmnka fvtwklnvkr ikteksrsfl yhhlfladdl fqtclvyirg
      301 lcedainlkn yndhennlsa iclvkldssr tysldefcee qlqqatqalk qledirnkai
      361 semkstflkv aekneikeyf esklseddtt hfklpkyrrl letffkfvml vdyifqelir
      421 qlmntavtll lelfngsagm pfsvekknen lirtfkdnsf ptgkttndce elvdnsklha
      481 isvqksevkt dtdineilns vevgkdlrkt yapifevnlc lripaesdss enskenfhes
      541 dqcpeecvmf edemsenkdn cvkkhsseel lpkakkskei synlediisd teietefenk
      601 ymyyefpefp tnlfidpnrl efsvkiqnml tnmekcitti tplcqdpqls ifidlvsimd
      661 lpnktgsiih ykeqtrwpdc hilfetdpay qniivnllti ignsmglvna yshkfikyct
      721 mtekakimsm kissmgelts kefeailnrf rnyfrhivnm aiekrigifn vvsldyqsec
      781 llyidnvihm shtliqsvie kknknllevv esslqqlecd pteieefveh fiflnaissk
      841 isklekeflt msqlysvakh hqihiseeqi aifqvlllkf sqlkssmkls kinkdtaitk
      901 frdnleacis glhvdvgnlk akirtplllc dgtqvstame miqtlsgeaa sltnkakays
      961 hyqdcfsdsq shmhsvnvee itqivlseis diegdltlrk klweaqeewr qaswewrnss
     1021 lqsidvesvq rnvsklmhii svlekglpks dmvthlkqvv tefkqelpii ialgnpclkp
     1081 rhwealqeii gksvpldkyc kvenllalki fqyeneindm stsatneaal ekmlfkiidf
     1141 wnttplplil hhteiysifi ipsiddisaq leesqvilat ikgsphigpi kdlvnewdqn
     1201 ltlfsytlee wmncqrnwly lepvfhssei rrqlpaetel fsqvismwkk imskiqnkqn
     1261 alqittsagv leilqncnih lehikksled ylevkrlifp rfyflsnael ldiladsrnp
     1321 esvqphlvkc fenikqlliw kqdigppavk mlisaegegl vlpkkirvrs aveqwlvnve
     1381 ksmfdvlkkf lsqgiedwnc qmfsqwvlsh pgqvvltvsq imfyndcvks fvssysrekl
     1441 ekvhaglmch leevadlvvl dtsnsrtkai lgallilyvh crdivinlll knifnaedfe
     1501 wtrhlqykwn ekqklcyvsq gnasftygye ylgctsrlvi tpltdrcwlt lmealhlnlg
     1561 gcpagpagtg ktetvkdlak slgkhcvvfn cfedldykiv rkfffglvqs gawscfdefn
     1621 lidlevlsvi asqiltikaa kdnysarfvl egkeirinms cavfitmnpr ygggvelpdn
     1681 lkslfrpvam mvphyqmiae iilfsfgfks anslsgkltn lyelarkqls qqdhynfglr
     1741 slkivlimag tkkrefkcdt sdslseadet livieairea slpkcppedv plfeniigdi
     1801 fpevtvlkvn qlalekviyt atqqlglqnw ssqkekiiqf ynqlqvcvgv mlvgptgggk
     1861 ttvrrileka ltllpiadfl svaerksask iserkgkvdi cvlnpkcvtl selygqldpn
     1921 tmewtdglls atirsyvyfn tpkntkkdid lrlksrisdl snvfkldssd ttetddnife
     1981 eiekvvkipe nhnfdwqwii ldgpvdtfwv enlnsvlddt rtlclanser ialtnkirvi
     2041 fevdnlsqas patvsrcamv ymdpvdlgwe pyvkswllkt skiisqsgvd clefmiknsv
     2101 tdglqfirnr qkfqpypmed itvvitlcri ldaffdfmgk nggfeqsddl ndtsskeans
     2161 qresvtfkdi ekrdentwyp eknpdkltki iqklfvfaft wafggalnre dehrenipfc
     2221 pslepdslak vtydfdklvh elfgnssqvg inlptgecsi fgyfvdieqc efipwsdlvp
     2281 ndqtliqrgt slltnlqrsg gnflkitecg ecinytatrd ttclsflmsl llknscpvll
     2341 tgesgvgkta ainqmlekle gpgafdikhg silgdtllys eikkssslkq nitilipeth
     2401 ktatgssdnp tkkpevrtnk kllknndhkg vvvstinfst nvtaaktkem ilkklirrtk
     2461 dtlgapknnr ilifiddmnm pvsdmygaqp plelirqlld lggvydtekn twkniqdlsi
     2521 vaacvpvvnd isprllkhfs mlvlphpsqd ilctifqahl giyfsinnft pevqkskdqi
     2581 iscslaiyhq vrqnmlptpt kchymfnlrd mfklllgllq adrtvvnske maallfvhea
     2641 trvfhdrlid ftdkslfyrl lsrelencfq iqwtqenlmn hstvfldfld inkthrkkiy
     2701 qntsdynkla svldefqmkl gsislelshs mvffkeaieh iiratrvlrq pgshmlligi
     2761 dgcgkktcat lacyltdnkl yrvpishkca yiefkevfkk vfihaglkgk ptvlmvpnln
     2821 ieqdsfledl nyiissgrip dlfenvelds iamkirylte qsghmdnrqs llsffqkriy
     2881 knlhifvims pegpsfrqnc rvypsmissc tidwyerwpe eallivansf lkekvnfenr
     2941 enlkeklapt cvqihksmkd lnrkyfeetg rfyyttpnsy lqfmetfahi lrareeemqt
     3001 krdrfhmgls tileattlvt emqeellilg pqveqktket etlmeklrkd sqvvekvqml
     3061 vkqdeeivae evrivedyaq ktanelksvl pafdkaival naldkadvae lrvytrppfl
     3121 vltvmnavci llqkkpnwat aklllsetgf lkklinldkd sipdkvfvkl kkivtlpdfn
     3181 phkislvsva ccslcqwvia lnnyhevqkv vgpkqiqvae aqnvlkiarq rlaekqrglq
     3241 lveehllflq aaykdtvaek qllanrktma srrfqcasvl ltvledektr wqetinqidn
     3301 klegilgdil lsaacivysg iltpefrqli vnkwetfcie ngislsskfs likvmaqkye
     3361 isrwhnqglp hgqysvenai likngqqwpl lidphrqahk wirqmegsrl qklsiedsny
     3421 tkkienamkt ggsvllqnll etlapglkai lkkdiyqkkg hyfirvgdae feynsnfrly
     3481 lsteienphf lpsvynfvtm inftvtfqgl qdqllstvvt hevphledqr skllesisld
     3541 aitleeleek tlnllqkalg sildddeivd tlrkskmtsn eiskrieatk kaeseiqair
     3601 knylpiatrg allyflvadl tqinymyqfs ldwfhqvfvs svvskskere hsfkrekvsp
     3661 kevhefisis kepnlenekn lldkhiksai dmltksifkv vssalfnedk lcfsfrlcta
     3721 imqnnangnl iqddigflpe eewniflysg iliniksals qskltstfei gesqhlqwls
     3781 dsrwrqcqyv sthlepfsll cksllsnvsq wdtfknskav yslistpfss enasleentk
     3841 ppeetellne nketcnpinf pwekltsfqr lilvkvlrpe slnnsvrkfi tekmgnkylq
     3901 rtgvnlkday kgsnartpli liqthgidlt nillrfaqel kgtthhvtii slgrdqaaka
     3961 edlilkaltk tqqwvflqnc hlatsfmprl ctivesfnsp nvtidpefrl wlssksyssf
     4021 pipvlkkglk iavespqglk snllqtfgct gsgevaikvl enslrgqpsi swqalrylig
     4081 eviyggrvid nwdkrclktl lykfcnpevl kddfsfssdg iclpvpgsas ikdyihiiqs
     4141 lpdddlpevl gihpeairsc wetqgekfie nliamqpktt tanlmirpeq skdelvmeil
     4201 sdllkrlplt vekeeiavgt pstlksmmss siweslsknl kdhdplihcv lltflkqeik
     4261 rfdkllfvih kslkdlqlai kgeiiltqel eeifnsflnm rvptlwqkha yrsckplssw
     4321 iddliqrlnf fntwakvayt aiqrrymrfv tvwkqsipst sqkckhpeds ennffegfps
     4381 rywlpafffp qaflaavlqd ygrsrgiavd altfthhvis nttdkdekfs vfmpkklniv
     4441 rrafkgsass htgvyifglf iegarwnreq kiledslple mccdfpdiyf lptkistktp
     4501 nasnqtdsel yafecpvyqt persrilatt glptnfltsv ylstkkppsh witmrvallc
     4561 eknek
//
LOCUS       XP_054174403            1939 aa            linear   PRI 20-MAR-2023
DEFINITION  structural maintenance of chromosomes flexible hinge
            domain-containing protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_054174403
VERSION     XP_054174403.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318428.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 7% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1939
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1939
                     /product="structural maintenance of chromosomes flexible
                     hinge domain-containing protein 1 isoform X4"
                     /calculated_mol_wt=219793
     CDS             1..1939
                     /gene="SMCHD1"
                     /gene_synonym="BAMS; FSHD2"
                     /coded_by="XM_054318428.1:659..6478"
                     /db_xref="GeneID:23347"
                     /db_xref="HGNC:HGNC:29090"
                     /db_xref="MIM:614982"
ORIGIN      
        1 myeyyasegq nplpfalael idnslsatsr nigvrriqik llfdetqgkp avavidngrg
       61 mtskqlnnwa vyrlskftrq gdfesdhsgy vrpvpvprsl nsdisyfgvg gkqavffvgq
      121 sarmiskpad sqdvhelvls kedfekkekn keaiysgyir nrkpsdsvhi tndderflhh
      181 liieekekds ftavvitgvq pehiqylkny fhlwtrqlah iyhyyihgpk gneirtskev
      241 epfnnidiei smfekgkvpk ivnlreiqdd mqtlyvntaa dsfefkahve gdgvvegiir
      301 yhpflydret ypddpcfpsk lkdeddeddc filekaargk rpifecfwng rlipytsved
      361 fdwctppkkr glapiecynr isgalftndk fqvstnkltf mdlelklkdk ntlftrilng
      421 qeqrmkidre falwlkdche kydkqikftl fkgvitrpdl pskkqgpwat yaaiewdgki
      481 ykagqlvkti ktlplfygsi vrfflygdhd gevyatggev qiamepqaly devrtvpiak
      541 ldrtvaekav kkyvedemar lpdrlsvtwp egdellpnev rpagtpigal rieilnkkge
      601 amqklpgtsh ggskkllvel kvilhsssgn keiishisqh ggkwpywfkk meniqklgny
      661 tlklqvvlne snadtyagrp lpskaikfsv kegkpekfsf glldlpfrvg vpfniplefq
      721 defghtsqlv tdiqpvleas glslhyeeit kgpncvirgv takgpvnscq gknynlkvtl
      781 pglkedsqil kirllpghpr rlkvkpdsei lviengtafp fqvevldesd nitaqpkliv
      841 hckfsgapnl pvyvvdcsss gtsiltgsai qvqnikkdqt lkarieipsc kdvapvekti
      901 kllpsshvar lqifsvegqk aiqikhqdev nwiagdimhn lifqmydege reinitsala
      961 ekikvnwtpe inkehllqgl lpdvqvptsv kdmrycqvsf qddhvslesa ftvrplpdep
     1021 khlkcemkgg ktvqmgqelq gevviiitdq ygnqiqafsp sslsslsiag vgldssnlkt
     1081 tfqentqsis vrgikfipgp pgnkdlcftw refsdfirvq lisgppakll lidwpelkes
     1141 ipvingrdlq npiivqlcdq wdnpapvqhv kisltkasnl klmpsnqqhk tdekgranlg
     1201 vfsvfaprge htlqvkaiyn ksiiegpiik lmilpdpekp vrlnvkydkd asflagglft
     1261 dfmisvised dsiikninpa rismkmwkls tsgnrppana etfscnkikd ndkedgcfyf
     1321 rdkvipnkvg tyciqfgfmm dktnilnseq vivevlpnqp vklvpkikpp tpavsnvrsv
     1381 asrtlvrdlh lsitddydnh tgidlvgtii atikgsneed tdtplfigkv rtlefpfvng
     1441 saeimslvla esspgrdste yfivfeprlp llsrtlepyi lpfmfyndvk kqqqmaaltk
     1501 ekdqlsqsiv mykslfeasq qllnemkcqv eearlkeaql rnelkihnid ipttqqvphi
     1561 eallkrklse qeelkkkprr sctlpnytkg sgdvlgkiah laqieddraa mviswhlasd
     1621 mdcvvtlttd aarriydetq grqqvlplds iykktlpdwk rslphfrngk lyfkpigdpv
     1681 fardlltfpd nvehcetvfg mllgdtiild nldaanhyrk evvkithcpt lltrdgdrir
     1741 sngkfgglqn kappmdklrg mvfgapvpkq clilgeqidl lqqyrsavck ldsvnkdlns
     1801 qleylrtpdm rkkkqeldeh eknlklieek lgmtpirkcn dslrhspkve ttdcpvppkr
     1861 mrreatrqns lhnsedsksq lglatlqvlw shthgwwlpf wtaqdynqnr cmrgdrekrp
     1921 lvsvrmpcfl hlcfrrprg
//
LOCUS       XP_054196709             987 aa            linear   PRI 20-MAR-2023
DEFINITION  KAT8 regulatory NSL complex subunit 1-like protein isoform X3 [Homo
            sapiens].
ACCESSION   XP_054196709
VERSION     XP_054196709.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340734.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..987
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..987
                     /product="KAT8 regulatory NSL complex subunit 1-like
                     protein isoform X3"
                     /calculated_mol_wt=112122
     CDS             1..987
                     /gene="KANSL1L"
                     /gene_synonym="C2orf67; MSL1v2"
                     /coded_by="XM_054340734.1:52..3015"
                     /db_xref="GeneID:151050"
                     /db_xref="HGNC:HGNC:26310"
                     /db_xref="MIM:613833"
ORIGIN      
        1 mtpalreata kgisfsslps tmesdkmlym esprtvdekl kgdtfsqmlg fptpeptlnt
       61 nfvnlkhfgs pqsskhyqtv flmrsnstln khnenykqkk lgepscnklk nilyngsniq
      121 lskiclshse efikkeplsd ttsqcmkdvq iildsnitkd tnvdkvqlqn ckwyqenall
      181 dkvtdaeikk gllhctqkki vpghsnvpvs ssaaekeeev harllhcvsk qkillsqarr
      241 tqkhlqmlla khvvkhygqq mklsmkhqlp kmktfheptt ilgnslpkct eikpevntlt
      301 aenklwddak ngfarctaae iqrfafsatg llshveegld sdatdsssdd dldeytlrkn
      361 vavncstewk wlvdrarvgs rwtwlqaqis dleckiqqlt dihrqirask givvleecql
      421 pkdilkkqmq fadqaaslni lgnpqvpqec qdpvpeqdfe mspssptlll rniekqsaql
      481 teiinsliap lnlsptsspl sskscshkcl angiyrsase nldelsssss wllnqkhskk
      541 krkdrtrlks ssltfmstsa rtrplqsfhk rklyrlsptf ywtpqtlpsk etaflnttqm
      601 pclqsastws syehnsesyl lrehvselds sfhsvlslps dvplhfhfet llkkteikgn
      661 laenkfvdey iispspvhst lnqwrngysp ickpqirses saqllqgrkk rhlsetalge
      721 rtkleesdfq htesgshsnf tavsnvnvls riqnssrnta rrrlrsessy didnivipms
      781 lvapaklekl qykeiltpsw rmvvlqplde ynlgkeeied lsdevfslrh kkyeereqar
      841 wslweqskwh rrnsrayskn vegqdlllke ypnnfsssqq caaasppglp senqdlcayg
      901 lpslnqsqet kslwwerraf plkgedmaal lcqdekkdqv ersstafhge ifgtsvpeng
      961 hhpkkqsdgm eeyktfglgl tnvkknr
//
LOCUS       XP_054207046             621 aa            linear   PRI 20-MAR-2023
DEFINITION  actin-binding LIM protein 2 isoform X25 [Homo sapiens].
ACCESSION   XP_054207046
VERSION     XP_054207046.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351071.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..621
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..621
                     /product="actin-binding LIM protein 2 isoform X25"
                     /calculated_mol_wt=68680
     CDS             1..621
                     /gene="ABLIM2"
                     /coded_by="XM_054351071.1:100..1965"
                     /db_xref="GeneID:84448"
                     /db_xref="HGNC:HGNC:19195"
                     /db_xref="MIM:612544"
ORIGIN      
        1 mgvpggdtvs qpqaapsple kspstailcn tcgnvckgev lrvqdkyfhi kcfvckacgc
       61 dlaeggffvr qgeyictldy qrlygtrcfs cdqfiegevv salgktyhpd cfvcavcrlp
      121 fppgdrvtfn gkecmcqkcs lpvsvgssah lsqglrscgg cgteikngqa lvaldkhwhl
      181 gcfkckscgk llnaeyiskd glpyceadyh akfgircdsc ekyitgrvle agekhyhpsc
      241 alcvrcgqmf aegeemylqg ssiwhpacrq aartedrnke trtssesiis vpasstsgsp
      301 srviyaklgg eildyrdlaa lpkskaiydi drpdmisysp yishsagdrq sygespqlls
      361 ptptegdqdd rsykqcrtss psstgsvslg rytptsrspq hysrpagtvs vgtssclsls
      421 qhpsptsvfr hhyipyfrgs esgrstpsls vlsdskppps tyqqaprhfh vpdtgvkdni
      481 yrkppiyrqh aarrsdgedg sldqdnrkks swlmlkgdad trtnspdldt qslshssgtd
      541 rdplqrmagd sfhsqykiyp ydslivtnri rvklpkdvdr trlerhlspe efqevfgmsi
      601 eefdrlalwk rndlkkkall f
//
LOCUS       XP_054208085            2861 aa            linear   PRI 20-MAR-2023
DEFINITION  PDZ domain-containing protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054208085
VERSION     XP_054208085.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352110.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2861
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2861
                     /product="PDZ domain-containing protein 2 isoform X2"
                     /calculated_mol_wt=304123
     CDS             1..2861
                     /gene="PDZD2"
                     /gene_synonym="AIPC; PAPIN; PDZK3; PIN1"
                     /coded_by="XM_054352110.1:772..9357"
                     /db_xref="GeneID:23037"
                     /db_xref="HGNC:HGNC:18486"
                     /db_xref="MIM:610697"
ORIGIN      
        1 mpitqdnavl hlpllyqwlq nslqeggdgp eqrlcqaaiq klqeyiqlnf avdestvppd
       61 hsppemeict vyltkelgdt etvglsfgni pvfgdygekr rggkkrkthq gpvldvgciw
      121 vtelrknspa gksgkvrlrd eilslngqlm vgvdvsgasy laeqcwnggf iylimlrrfk
      181 hkahstyngn ssnssepget ptlelgdrta kkgkrtrkfg visrppanka peeskgsagc
      241 evssdpstel engpdpelgn ghvfqlengp dslkevagph lersevdrgt ehripktdap
      301 lttsndkrrf skggktdfqs sdclareevg riwkmellke sdglgiqvsg grgskrspha
      361 ivvtqvkegg aahrdgrlsl gdellvingh llvglsheea vailrsatgm vqlvvasken
      421 saedllrlts kslpdltssv edvsswtdne dqeadgeede gtsssvqram pgtdepqdvc
      481 gaeeskgnle spkqgsnkik lksrlsggvh rlesveeyne lmvrngdpri rmlevsrdgr
      541 khslpqllds ssasqeyhiv kkstrslstt qvespwrlir psvisiigly kekgkglgfs
      601 iaggrdcirg qmgifvktif pngsaaedgr lkegdeildv ngipikgltf qeaihtfkqi
      661 rsglfvltvr tklvspsltp cstpthmsrs aspnfntsgg asaggsdegs ssslgrktpg
      721 pkdrivmevt lnkeprvglg igacclalen sppgiyihsl apgsvakmes nlsrgdqile
      781 vnsvnvrhaa lskvhailsk cppgpvrlvi grhpnpkvse qemdeviars tyqeskeans
      841 spglgtplks pslakkdsli seselsqyfa hdvpgplsdf mvagsededh pgsgcstsee
      901 gslppststh kepgkprans lvtlgshras glfhkqvtva rqaslpgspq alrnpllrqr
      961 kvgcydanda sdeeefdreg dcislpgalp gpirplsedd prrvsisssk gmdvhnqeer
     1021 prktlvskai sapllgssvd leesipegmv daasyaanlt dsaeapkgsp gswwkkelsg
     1081 sssapkleyt vrtdtqsptn tgspsspqqk seglgsrhrp varvsphckr seaeakpsgs
     1141 qtvnltgran dpcdldsrvq atsvkvtvag fqpggaveke slgklttgda cvstscelas
     1201 alshldashl tenlpkaase lgqqpmtgkk gaahpdpskt svdtgqvsrp enpsqpaspr
     1261 vtkckarspv rlphegspsp gekaaappdy sktrsasets tphntrrvaa lrgagpgaeg
     1321 mtpagavlpg dpltsqeqrq gapgnhskal emtgihapes sqepsllega dsvssrapqa
     1381 slsmlpstdn tkeacghvsg hccpggsres pvtdidsfik eldasaarsp ssqtgdsgsq
     1441 egsaqghppa gagggsscra epvpggqtss prrawaagap aypqwasqps vldsinpdkh
     1501 ftvnknflsn ysrnfssfhe dstslsglgd stepslssmy gdaedsssdp eslteapras
     1561 ardgwspprs rvslhkedps eseeeqieic strgcpnpps spahlptqaa icpasakvls
     1621 lkystpresv asprekaacl pgsytsgpds sqpssllems sqehethadi stsqnhrpsc
     1681 aeettevtsa ssamenspls kvarhfhspp iilsspnmvn glehdlldde tlnqyetsin
     1741 aaaslssfsv dvpkngesvl enlhisesqd lddllqkpkm iarrpimawf keinkhnqgt
     1801 hlrsktekeq plmparspds kiqmvsssqk kgvtvphspp qpktnlenkd lskkspaeml
     1861 ltngqkakcg pklkrlslkg kakvnseapa anavkaggtd hrkplispqt shktlskavs
     1921 qrlhvadhed pdrnttaapr spqcvleskp platsgplkp svsdtsirtf vspltspkpv
     1981 peqgmwsrfh mavlsepdrg cpttpkspkc raegraprad sgpvspaasr ngmsvagnrq
     2041 seprlashva adtaqprptg ekggnimasd rlertnqlki veisaeavse tvcgnkpaes
     2101 drrggclaqg ncqekseirl yrqvaessts hpsslpshas qaeqemsrsf smaklassss
     2161 slqtairkae ysqgksslms dsrgvprnsi pggpsgedhl yftprpatrt ysmpaqfssh
     2221 fgreghpphs lgrsrdsqvp vtssvvpeak asrgglpsla ngqgiysvkp lldtsrnlpa
     2281 tdegdiisvq etsclvtdki kvtrrhycye qnwphestsf fsvkqriksf enlanadrpv
     2341 aksgaspfls vsskppigrr ssgsivsgsl ghpgdaaarl lrrslsscse nqseagtllp
     2401 qmakspsimt ltisrqnppe tsskgsdsel kkslgplgip tptmtlaspv krnkssvrht
     2461 qpspvsrskl qelralsmpd ldklcsedys agpsavlfkt eleitprrsp gppaggvscp
     2521 ekggnracpg gsgpktsaae tpssasdtge aaqdlpfrrs wsvnldqllv sagdqqrlqs
     2581 vlssvgskst iltliqeaka qseneedvcf ivlnrkegsg lgfsvaggtd vepksitvhr
     2641 vfsqgaasqe gtmnrgdfll svngaslagl ahgnvlkvlh qaqlhkdalv vikkgmdqpr
     2701 psarqeppta ngkgllsrkt iplepgient eqrmqvqqqh sqegsprigr ptvllgssav
     2761 irrsvavhda lcvevlktsa glglsldggk ssvtgdgplv ikrvykggaa eqagiieagd
     2821 eilaingkpl vglmhfdawn imksvpegpv qllirkhrns s
//
LOCUS       XP_054218612             661 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium/potassium/calcium exchanger 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054218612
VERSION     XP_054218612.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362637.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..661
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..661
                     /product="sodium/potassium/calcium exchanger 2 isoform X1"
                     /calculated_mol_wt=73533
     CDS             1..661
                     /gene="SLC24A2"
                     /gene_synonym="NCKX2"
                     /coded_by="XM_054362637.1:908..2893"
                     /db_xref="GeneID:25769"
                     /db_xref="HGNC:HGNC:10976"
                     /db_xref="MIM:609838"
ORIGIN      
        1 mdlqqsttit slekwcldes lsgcrrhysv kkklklirvl glfmglvais tvsfsisafs
       61 etdtqstgea svvsgprvaq gyhqrtlldl ndkildytpq pplskegese nstdhaqgdy
      121 pkdifsleer rkgaiilhvi gmiymfiala ivcdeffvps ltviteklgi sddvagatfm
      181 aaggsapelf tsligvfiah snvgigtivg savfnilfvi gmcalfsrei lnltwwplfr
      241 dvsfyivdli mliiffldnv imwwesllll tayfcyvvfm kfnvqvekwv kqminrnkvv
      301 kvtapeaqak psaardkdep tlpakprlqr ggssaslhns lmrnsifqlm ihtldplaee
      361 lgsygklkyy dtmteegrfr ekasilhkia kkkchvdene rqngaanhve kielpnstst
      421 dvemtpssda sepvqngnls hniegaeaqt adeeedqpls lawpsetrkq vtflivfpiv
      481 fplwitlpdv rkpssrkffp itffgsitwi avfsylmvww ahqvgetigi seeimgltil
      541 aagtsipdli tsvivarkgl gdmavsssvg snifditvgl plpwllytvi hrfqpvavss
      601 nglfcaivll fimllfvils ialckwrmnk ilgfimfgly fvflvvsvll edriltcpvs
      661 i
//
LOCUS       XP_054182683            1222 aa            linear   PRI 20-MAR-2023
DEFINITION  IQ motif and SEC7 domain-containing protein 2 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054182683
VERSION     XP_054182683.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326708.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1222
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1222
                     /product="IQ motif and SEC7 domain-containing protein 2
                     isoform X6"
                     /calculated_mol_wt=135250
     CDS             1..1222
                     /gene="IQSEC2"
                     /gene_synonym="BRAG1; IQ-ArfGEF; MRX1; MRX18; MRX78;
                     XLID1"
                     /coded_by="XM_054326708.1:228..3896"
                     /db_xref="GeneID:23096"
                     /db_xref="HGNC:HGNC:29059"
                     /db_xref="MIM:300522"
ORIGIN      
        1 meagsgppgg pgsespnrav eyllelnnii esqqqlletq rrrieelegq ldqltqenrd
       61 lreesqlhrg elhrdphgar dspgresqyq nlretqfhhr elresqfhqa ardvgypnre
      121 gayqnreavy rdkerdasyp lqdttgytar erdvaqchlh henpalgrer ggreagpahp
      181 grekeagysa avgvgprppr ergqlsrgas rssspgaggg hstststspa ttlqrksdge
      241 nsrtvrstas htlhqyccpt qvldsmkltp sgrlaessve gdapgsdlst avdspgsqpp
      301 yrlsqlppss shmggppagv glpwaqrarl qpasvalrkq eeeeikrska lsdsyelstd
      361 lqdkkvemle rkyggsflsr raartiqtaf rqyrmnknfe rlrssasesr msrriilsnm
      421 rmqfsfeeye kaqnpayfeg kpasldegam agarshrler glpyggscgg gidgggssvt
      481 tsgefsndit eledsfskqv kslaesidea lnchpsgpms eepgsaqlek reskeqqeds
      541 satsfsdlpl ylddtvpqqs perlpstepp pqgrpefwap aplppvpppv psgtredgsr
      601 eegtrrgpgc lecrdfrlra ahlplltiep psdssvdlsd rsdrgsvhrq lvyeadgcsp
      661 hgtlkhkgpp grapiphrhy papegpapap pgplppapns gtgpsgvagg rrlgkceaag
      721 ensdggdnes lesssnsnet incssgsssr dslreppatg lckqtyqret rhswdspafn
      781 ndvvqrrhyr iglnlfnkkp ekgiqylier gflsdtpvgv ahfilerkgl srqmigeflg
      841 nrqkqfnrdv ldcvvdemdf ssmdlddalr kfqshirvqg eaqkverlie afsqrycvcn
      901 palvrqfrnp dtifilafai illntdmysp svkaerkmkl ddfiknlrgv dngediprdl
      961 lvgiyqriqg relrtnddhv sqvqavermi vgkkpvlslp hrrlvcccql yevpdpnrpq
     1021 rlglhqrevf lfndllvvtk ifqkkkilvt ysfrqsfplv emhmqlfqns yyqfgiklls
     1081 avpggerkvl iifnapslqd rlrftsdlre siaevqemek yrveselekq kgmmrpnasq
     1141 pggakdsvng tmarssledt ygagdglkrg alssslrdls dagkrgrrns vgsldstieg
     1201 rrrvgmplel ghekllppsp al
//
LOCUS       NP_001177728             938 aa            linear   PRI 22-MAR-2023
DEFINITION  serine/threonine-protein kinase PLK4 isoform 2 [Homo sapiens].
ACCESSION   NP_001177728
VERSION     NP_001177728.1
DBSOURCE    REFSEQ: accession NM_001190799.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 938)
  AUTHORS   Chen S, Zhong L, Chu X, Wan P, Liu Z, Lu Y, Zhang Z, Wang X, Zhou
            Z, Shao X and Liu B.
  TITLE     Downregulation of Polo-like kinase 4 induces cell apoptosis and
            G2/M arrest in acute myeloid leukemia
  JOURNAL   Pathol Res Pract 243, 154376 (2023)
   PUBMED   36821942
  REMARK    GeneRIF: Downregulation of Polo-like kinase 4 induces cell
            apoptosis and G2/M arrest in acute myeloid leukemia.
REFERENCE   2  (residues 1 to 938)
  AUTHORS   Fonseca I, Horta C, Ribeiro AS, Sousa B, Marteil G,
            Bettencourt-Dias M and Paredes J.
  TITLE     Polo-like kinase 4 (Plk4) potentiates anoikis-resistance of p53KO
            mammary epithelial cells by inducing a hybrid EMT phenotype
  JOURNAL   Cell Death Dis 14 (2), 133 (2023)
   PUBMED   36797240
  REMARK    GeneRIF: Polo-like kinase 4 (Plk4) potentiates anoikis-resistance
            of p53KO mammary epithelial cells by inducing a hybrid EMT
            phenotype.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 938)
  AUTHORS   Neitzel H, Varon R, Chughtai S, Dartsch J, Dutrannoy-Tonsing V,
            Nurnberg P, Nurnberg G, Schweiger M, Digweed M, Hildebrand G,
            Hackmann K, Holtgrewe M, Sarioglu N, Schulze B, Horn D and Sperling
            K.
  TITLE     Transmission ratio distortion of mutations in the master regulator
            of centriole biogenesis PLK4
  JOURNAL   Hum Genet 141 (11), 1785-1794 (2022)
   PUBMED   35536377
  REMARK    GeneRIF: Transmission ratio distortion of mutations in the master
            regulator of centriole biogenesis PLK4.
REFERENCE   4  (residues 1 to 938)
  AUTHORS   Huang RL, Liu C, Fu R, Yan Y, Yang J, Wang X and Li Q.
  TITLE     Downregulation of PLK4 expression induces apoptosis and G0/G1-phase
            cell cycle arrest in keloid fibroblasts
  JOURNAL   Cell Prolif 55 (7), e13271 (2022)
   PUBMED   35670224
  REMARK    GeneRIF: Downregulation of PLK4 expression induces apoptosis and
            G0/G1-phase cell cycle arrest in keloid fibroblasts.
REFERENCE   5  (residues 1 to 938)
  AUTHORS   Singh CK, Denu RA, Nihal M, Shabbir M, Garvey DR, Huang W,
            Iczkowski KA and Ahmad N.
  TITLE     PLK4 is upregulated in prostate cancer and its inhibition reduces
            centrosome amplification and causes senescence
  JOURNAL   Prostate 82 (9), 957-969 (2022)
   PUBMED   35333404
  REMARK    GeneRIF: PLK4 is upregulated in prostate cancer and its inhibition
            reduces centrosome amplification and causes senescence.
REFERENCE   6  (residues 1 to 938)
  AUTHORS   Yamashita Y, Kajigaya S, Yoshida K, Ueno S, Ota J, Ohmine K, Ueda
            M, Miyazato A, Ohya K, Kitamura T, Ozawa K and Mano H.
  TITLE     Sak serine-threonine kinase acts as an effector of Tec tyrosine
            kinase
  JOURNAL   J Biol Chem 276 (42), 39012-39020 (2001)
   PUBMED   11489907
REFERENCE   7  (residues 1 to 938)
  AUTHORS   Mayor T, Stierhof YD, Tanaka K, Fry AM and Nigg EA.
  TITLE     The centrosomal protein C-Nap1 is required for cell cycle-regulated
            centrosome cohesion
  JOURNAL   J Cell Biol 151 (4), 837-846 (2000)
   PUBMED   11076968
REFERENCE   8  (residues 1 to 938)
  AUTHORS   Hudson JW, Chen L, Fode C, Binkert C and Dennis JW.
  TITLE     Sak kinase gene structure and transcriptional regulation
  JOURNAL   Gene 241 (1), 65-73 (2000)
   PUBMED   10607900
REFERENCE   9  (residues 1 to 938)
  AUTHORS   Golsteyn RM, Mundt KE, Fry AM and Nigg EA.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
REFERENCE   10 (residues 1 to 938)
  AUTHORS   Schultz SJ and Nigg EA.
  TITLE     Identification of 21 novel human protein kinases, including 3
            members of a family related to the cell cycle regulator nimA of
            Aspergillus nidulans
  JOURNAL   Cell Growth Differ 4 (10), 821-830 (1993)
   PUBMED   8274451
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC402409.1, AK303399.1,
            BU633758.1 and AI088969.1.
            
            Summary: This gene encodes a member of the polo family of
            serine/threonine protein kinases. The protein localizes to
            centrioles, complex microtubule-based structures found in
            centrosomes, and regulates centriole duplication during the cell
            cycle. Three alternatively spliced transcript variants that encode
            different protein isoforms have been found for this gene. [provided
            by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (2) lacks an alternate 5' coding
            exon, compared to variant 1. The resulting protein (isoform 2) has
            a shorter N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK303399.1, SRR14038191.3461104.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..938
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q28.1"
     Protein         1..938
                     /product="serine/threonine-protein kinase PLK4 isoform 2"
                     /EC_number="2.7.11.21"
                     /note="Snk akin kinase; serine/threonine-protein kinase
                     PLK4; serine/threonine-protein kinase 18;
                     serine/threonine-protein kinase Sak"
                     /calculated_mol_wt=105123
     Region          10..233
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(18..21,24,26,39,41,57..60,104,108..109,111,121..122)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     Region          559..665
                     /region_name="Plk4_PB1"
                     /note="Polo-like Kinase 4 Polo Box 1; pfam18190"
                     /db_xref="CDD:436336"
     Region          667..775
                     /region_name="Plk4_PB2"
                     /note="Polo-like Kinase 4 Polo Box 2; pfam18409"
                     /db_xref="CDD:436478"
     Region          852..931
                     /region_name="POLO_box_Plk4_3"
                     /note="C-terminal (third) polo-box domain (PBD) of
                     polo-like kinase 4 (Plk4/Sak); cd13116"
                     /db_xref="CDD:240559"
     Site            order(859,866,877,879,881..889,892..897,899,919..920,
                     922..923)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:240559"
     CDS             1..938
                     /gene="PLK4"
                     /gene_synonym="MCCRP2; SAK; STK18"
                     /coded_by="NM_001190799.2:243..3059"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS54803.1"
                     /db_xref="GeneID:10733"
                     /db_xref="HGNC:HGNC:11397"
                     /db_xref="MIM:605031"
ORIGIN      
        1 matcigekie dfkvgnllgk gsfagvyrae sihtglevai kmlynyfeds nyvylvlemc
       61 hngemnrylk nrvkpfsene arhfmhqiit gmlylhshgi lhrdltlsnl lltrnmniki
      121 adfglatqlk mphekhytlc gtpnyispei atrsahgles dvwslgcmfy tlligrppfd
      181 tdtvkntlnk vvladyemps flsieakdli hqllrrnpad rlslssvldh pfmsrnsstk
      241 skdlgtveds idsghatist aitassstsi sgslfdkrrl ligqplpnkm tvfpknksst
      301 dfsssgdgns fytqwgnqet snsgrgrviq daeerphsry lrrayssdrs gtsnsqsqak
      361 tytmerchsa emlsvskrsg ggeneerysp tdnnanifnf fkektssssg sferpdnnqa
      421 lsnhlcpgkt pfpfadptpq tetvqqwfgn lqinahlrkt teydsispnr dfqghpdlqk
      481 dtsknawtdt kvkknsdasd nahsvkqqnt mkymtalhsk peiiqqecvf gsdplseqsk
      541 trgmeppwgy qnrtlrsits plvahrlkpi rqktkkavvs ildseevcve lvkeyasqey
      601 vkevlqissd gntitiyypn ggrgfpladr ppsptdnisr ysfdnlpeky wrkyqyasrf
      661 vqlvrskspk ityftryakc ilmenspgad fevwfydgvk ihktedfiqv iektgksytl
      721 ksesevnslk eeikmymdha neghriclal esiiseeerk trsapffpii igrkpgstss
      781 pkalspppsv dsnyptrera sfnrmvmhsa asptqapiln psmvtneglg ltttasgtdi
      841 ssnslkdclp ksaqllksvf vknvgwatql tsgavwvqfn dgsqlvvqag vssisytspn
      901 gqttrygene klpdyikqkl qclssillmf snptpnfh
//
LOCUS       NP_001354617             812 aa            linear   PRI 10-APR-2023
DEFINITION  SUN domain-containing protein 1 isoform yy [Homo sapiens].
ACCESSION   NP_001354617
VERSION     NP_001354617.1
DBSOURCE    REFSEQ: accession NM_001367688.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 812)
  AUTHORS   Meng Q, Shao B, Zhao D, Fu X, Wang J, Li H, Zhou Q and Gao T.
  TITLE     Loss of SUN1 function in spermatocytes disrupts the attachment of
            telomeres to the nuclear envelope and contributes to
            non-obstructive azoospermia in humans
  JOURNAL   Hum Genet 142 (4), 531-541 (2023)
   PUBMED   36933034
  REMARK    GeneRIF: Loss of SUN1 function in spermatocytes disrupts the
            attachment of telomeres to the nuclear envelope and contributes to
            non-obstructive azoospermia in humans.
REFERENCE   2  (residues 1 to 812)
  AUTHORS   Wu H, Zhang X, Hua R, Li Y, Cheng L, Li K, Liu Y, Gao Y, Shen Q,
            Wang G, Lv M, Xu Y, He X, Cao Y and Liu M.
  TITLE     Homozygous missense mutation in CCDC155 disrupts the transmembrane
            distribution of CCDC155 and SUN1, resulting in non-obstructive
            azoospermia and premature ovarian insufficiency in humans
  JOURNAL   Hum Genet 141 (11), 1795-1809 (2022)
   PUBMED   35587281
  REMARK    GeneRIF: Homozygous missense mutation in CCDC155 disrupts the
            transmembrane distribution of CCDC155 and SUN1, resulting in
            non-obstructive azoospermia and premature ovarian insufficiency in
            humans.
REFERENCE   3  (residues 1 to 812)
  AUTHORS   Persaud M, Selyutina A, Buffone C, Opp S, Donahue DA, Schwartz O
            and Diaz-Griffero F.
  TITLE     Nuclear restriction of HIV-1 infection by SUN1
  JOURNAL   Sci Rep 11 (1), 19128 (2021)
   PUBMED   34580332
  REMARK    GeneRIF: Nuclear restriction of HIV-1 infection by SUN1.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 812)
  AUTHORS   Chen Y, Wang Y, Chen J, Zuo W, Fan Y, Huang S, Liu Y, Chen G, Li Q,
            Li J, Wu J, Bian Q, Huang C and Lei M.
  TITLE     The SUN1-SPDYA interaction plays an essential role in meiosis
            prophase I
  JOURNAL   Nat Commun 12 (1), 3176 (2021)
   PUBMED   34039995
  REMARK    GeneRIF: The SUN1-SPDYA interaction plays an essential role in
            meiosis prophase I.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 812)
  AUTHORS   Hieda M, Matsumoto T, Isobe M, Kurono S, Yuka K, Kametaka S, Wang
            JY, Chi YH, Kameda K, Kimura H, Matsuura N and Matsuura S.
  TITLE     The SUN2-nesprin-2 LINC complex and KIF20A function in the Golgi
            dispersal
  JOURNAL   Sci Rep 11 (1), 5358 (2021)
   PUBMED   33686165
  REMARK    GeneRIF: The SUN2-nesprin-2 LINC complex and KIF20A function in the
            Golgi dispersal.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 812)
  AUTHORS   Crisp M, Liu Q, Roux K, Rattner JB, Shanahan C, Burke B, Stahl PD
            and Hodzic D.
  TITLE     Coupling of the nucleus and cytoplasm: role of the LINC complex
  JOURNAL   J Cell Biol 172 (1), 41-53 (2006)
   PUBMED   16380439
REFERENCE   7  (residues 1 to 812)
  AUTHORS   Padmakumar VC, Libotte T, Lu W, Zaim H, Abraham S, Noegel AA,
            Gotzmann J, Foisner R and Karakesisoglou I.
  TITLE     The inner nuclear membrane protein Sun1 mediates the anchorage of
            Nesprin-2 to the nuclear envelope
  JOURNAL   J Cell Sci 118 (Pt 15), 3419-3430 (2005)
   PUBMED   16079285
  REMARK    GeneRIF: The Sun1 itself does not require functional A-type lamins
            for its localisation at the inner nuclear membrane in mammalian
            cells.
REFERENCE   8  (residues 1 to 812)
  AUTHORS   Bray JD, Chennathukuzhi VM and Hecht NB.
  TITLE     Identification and characterization of cDNAs encoding four novel
            proteins that interact with translin associated factor-X
  JOURNAL   Genomics 79 (6), 799-808 (2002)
   PUBMED   12036294
  REMARK    GeneRIF: Isolation of a cDNA encoding a mouse homolog of the human
            SUN1 (UNC84A) gene.
REFERENCE   9  (residues 1 to 812)
  AUTHORS   Dreger M, Bengtsson L, Schoneberg T, Otto H and Hucho F.
  TITLE     Nuclear envelope proteomics: novel integral membrane proteins of
            the inner nuclear membrane
  JOURNAL   Proc Natl Acad Sci U S A 98 (21), 11943-11948 (2001)
   PUBMED   11593002
  REMARK    GeneRIF: KIAA0810 is a novel 100-kDa transmembrane protein with
            similarity to Caenorhabditis elegans Unc-84A and resides in the
            inner nuclear membrane. It is likely to interact with the nuclear
            lamina.
REFERENCE   10 (residues 1 to 812)
  AUTHORS   Malone CJ, Fixsen WD, Horvitz HR and Han M.
  TITLE     UNC-84 localizes to the nuclear envelope and is required for
            nuclear migration and anchoring during C. elegans development
  JOURNAL   Development 126 (14), 3171-3181 (1999)
   PUBMED   10375507
  REMARK    GeneRIF: Describes cloning and function of C. elegans unc-84 and
            cloning of human orthologs.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099731.5.
            
            Summary: This gene is a member of the unc-84 homolog family and
            encodes a nuclear envelope protein with an Unc84 (SUN) domain. The
            protein is involved in nuclear anchorage and migration.
            Alternatively spliced transcript variants have been described.
            [provided by RefSeq, Jan 2019].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.190831.1,
                                           SRR1803613.122739.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2151741
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..812
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     Protein         1..812
                     /product="SUN domain-containing protein 1 isoform yy"
                     /note="Sad1 unc-84 domain protein 1; protein unc-84
                     homolog A; SUN domain-containing protein 1; sad1/unc-84
                     protein-like 1"
                     /calculated_mol_wt=90050
     Region          62..319
                     /region_name="MRP"
                     /note="Mitochondrial RNA binding protein MRP; pfam09387"
                     /db_xref="CDD:430576"
     Region          <393..587
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          444..497
                     /region_name="SUN1_cc1"
                     /note="coiled-coil domain 1 of SUN domain-containing
                     protein 1 and similar proteins; cd21439"
                     /db_xref="CDD:410605"
     Site            order(444,447..448,451,454..455,458..459,461..462,
                     465..466,468..469,472..473,475..476,479,482..483,486,
                     489..490,493..494,496..497)
                     /site_type="other"
                     /note="putative trimer interface [polypeptide binding]"
                     /db_xref="CDD:410605"
     Region          574..632
                     /region_name="Sun2_CC2"
                     /note="SUN2 coiled coil domain 2; pfam18580"
                     /db_xref="CDD:436594"
     Region          675..810
                     /region_name="Sad1_UNC"
                     /note="Sad1 / UNC-like C-terminal; pfam07738"
                     /db_xref="CDD:400199"
     CDS             1..812
                     /gene="SUN1"
                     /gene_synonym="UNC84A"
                     /coded_by="NM_001367688.1:52..2490"
                     /note="isoform yy is encoded by transcript variant 51"
                     /db_xref="GeneID:23353"
                     /db_xref="HGNC:HGNC:18587"
                     /db_xref="MIM:607723"
ORIGIN      
        1 mdfsrlhmys ppqcvpentg ytyalsssys sdaldfeteh kldpvfdspr msrrslrlat
       61 tactlgdgea vgadsgtssa vslknraart tkqrrstnks afsinhvsrq vtssgvshgg
      121 tvslqdavtr rppvldeswi reqttvdhfw gldddgdlkg gnkaaiqgng dvgaaaatah
      181 ngfscsncsm lserkdvlta hpaapgpvsr vysrdrnqks hasyygrmnv revlredghl
      241 svngealcyf llqilrriga vgqavsrtaw salwlavvap gkaasgvfww lgigwyqfvt
      301 liswlnvfll trclrnickf lvlliplfll lglslrgqgn ffsflpvlnw asmhrtqrvd
      361 dpqdvfkptt srlkqplqgd seafpwhwms gveqqvasls gqchhhgenl relttllqkl
      421 qarvdqmegg aagpsasvrd avgqppretd fmafhqehev rmshledilg klrekseaiq
      481 keleqtkqkt isavgeqllp tvehlqleld qlkselsswr hvktgcetvd avqervdvqv
      541 remvkllfse dqqggsleql lqrfssqfvs kgdlqtmlrd lqlqilrnvt hhvsvtkqlp
      601 tseavvsavs eagasgitea qaraivnsal klysqdktgm vdfalesggg silstrcset
      661 yetktalmsl fgiplwyfsq sprvviqpdi ypgncwafkg sqgylvvrls mmihpaaftl
      721 ehipktlspt gnissapkdf avygleneyq eegqllgqft ydqdgeslqm fqalkrpddt
      781 afqivelrif snwghpeytc lyrfrvhgep vk
//
LOCUS       NP_001121175             418 aa            linear   PRI 17-APR-2023
DEFINITION  alpha-1-antitrypsin precursor [Homo sapiens].
ACCESSION   NP_001121175
VERSION     NP_001121175.1
DBSOURCE    REFSEQ: accession NM_001127703.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 418)
  AUTHORS   Jager S, Cramer DAT and Heck AJR.
  TITLE     Normal Alpha-1-Antitrypsin Variants Display in Serum
            Allele-Specific Protein Levels
  JOURNAL   J Proteome Res 22 (4), 1331-1338 (2023)
   PUBMED   36946534
  REMARK    GeneRIF: Normal Alpha-1-Antitrypsin Variants Display in Serum
            Allele-Specific Protein Levels.
REFERENCE   2  (residues 1 to 418)
  AUTHORS   Murali AR, Prakash S and Sanchez AJ.
  TITLE     Alpha-1-Antitrypsin Pi*MZ variant increases risk of developing
            hepatic events in nonalcoholic fatty liver disease patients
  JOURNAL   Clin Res Hepatol Gastroenterol 47 (2), 102066 (2023)
   PUBMED   36509354
  REMARK    GeneRIF: Alpha-1-Antitrypsin Pi*MZ variant increases risk of
            developing hepatic events in nonalcoholic fatty liver disease
            patients.
REFERENCE   3  (residues 1 to 418)
  AUTHORS   Kamp JC, Kappe NN, Moro CF, Fuge J, Kuehnel MP, Wrenger S, Welte T,
            Hoek BV, Jonigk DD, Khedoe PPSJ, Strnad P, Bjornstedt M, Stolk J,
            Janciauskiene S and Nemeth A.
  TITLE     Fibrosis-Related Gene Profiling in Liver Biopsies of PiZZ
            alpha1-Antitrypsin Children with Different Clinical Courses
  JOURNAL   Int J Mol Sci 24 (3), 2485 (2023)
   PUBMED   36768808
  REMARK    GeneRIF: Fibrosis-Related Gene Profiling in Liver Biopsies of PiZZ
            alpha1-Antitrypsin Children with Different Clinical Courses.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 418)
  AUTHORS   Meseeha,M. and Attia,M.
  TITLE     Alpha 1 Antitrypsin Deficiency
  JOURNAL   (in) ? (Ed.);
            STATPEARLS;
            (2023)
   PUBMED   28723059
REFERENCE   5  (residues 1 to 418)
  AUTHORS   Manne V and Kowdley KV.
  TITLE     Alpha1-Antitrypsin Deficiency: A Cause of Chronic Liver Disease
  JOURNAL   Clin Liver Dis 24 (3), 483-492 (2020)
   PUBMED   32620284
  REMARK    Review article
REFERENCE   6  (residues 1 to 418)
  AUTHORS   Cortes-Lopez R and Barjaktarevic I.
  TITLE     Alpha-1 Antitrypsin Deficiency: a Rare Disease?
  JOURNAL   Curr Allergy Asthma Rep 20 (9), 51 (2020)
   PUBMED   32572624
  REMARK    Review article
            Erratum:[Curr Allergy Asthma Rep. 2020 Sep 12;20(11):71. PMID:
            32918642]
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 418)
  AUTHORS   Stoller,J.K., Hupertz,V. and Aboussouan,L.S.
  TITLE     Alpha-1 Antitrypsin Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301692
REFERENCE   8  (residues 1 to 418)
  AUTHORS   Niemann MA, Narkates AJ and Miller EJ.
  TITLE     Isolation and serine protease inhibitory activity of the
            44-residue, C-terminal fragment of alpha 1-antitrypsin from human
            placenta
  JOURNAL   Matrix 12 (3), 233-241 (1992)
   PUBMED   1406456
REFERENCE   9  (residues 1 to 418)
  AUTHORS   Nachman,R.L. and Harpel,P.C.
  TITLE     Platelet alpha2-macroglobulin and alpha1-antitrypsin
  JOURNAL   J Biol Chem 251 (15), 4512-4521 (1976)
   PUBMED   59727
REFERENCE   10 (residues 1 to 418)
  AUTHORS   Cohen,A.B.
  TITLE     The interaction of alpha-1-antitrypsin with chymotrypsin, trypsin
            and elastase
  JOURNAL   Biochim Biophys Acta 391 (1), 193-200 (1975)
   PUBMED   1079736
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA428299.1, DA433050.1,
            CD685665.1, BX247968.1 and AL132708.3.
            
            Summary: The protein encoded by this gene is a serine protease
            inhibitor belonging to the serpin superfamily whose targets include
            elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen
            activator. This protein is produced in the liver, the bone marrow,
            by lymphocytic and monocytic cells in lymphoid tissue, and by the
            Paneth cells of the gut. Defects in this gene are associated with
            chronic obstructive pulmonary disease, emphysema, and chronic liver
            disease. Several transcript variants encoding the same protein have
            been found for this gene. [provided by RefSeq, Aug 2020].
            
            Transcript Variant: This variant (7) differs in the 5' UTR compared
            to variant 1. All eleven variants encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AK026174.1, BC015642.2 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1966682, SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.13"
     Protein         1..418
                     /product="alpha-1-antitrypsin precursor"
                     /note="protease inhibitor 1 (anti-elastase),
                     alpha-1-antitrypsin; serpin peptidase inhibitor, clade A
                     (alpha-1 antiproteinase, antitrypsin), member 1; alpha-1
                     antitrypsin; serine (or cysteine) proteinase inhibitor,
                     clade A, member 1; alpha-1 proteinase inhibitor; serpin
                     A1; epididymis secretory sperm binding protein;
                     alpha-1-antiproteinase; alpha-1 protease inhibitor; serpin
                     peptidase inhibitor clade A member 1; serpin peptidase
                     inhibitor clade A (alpha-1antiproteinase, antitrypsin)
                     member 1"
                     /calculated_mol_wt=44325
     sig_peptide     1..24
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2430
     mat_peptide     25..418
                     /product="alpha-1-antitrypsin"
                     /calculated_mol_wt=44325
     Site            38
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P01009.3)"
     Region          50..417
                     /region_name="serpinA1_A1AT"
                     /note="serpin family A member 1, alpha-1-antitrypsin;
                     cd02056"
                     /db_xref="CDD:381012"
     Site            order(51,55,59,62,68..70,72..79,123,127,214,231..234,
                     236..237,240,244,253,264,267,270..281,284,287..288,291,
                     296,308..313,315..316,362,371..373,386..401,403..415)
                     /site_type="other"
                     /note="trimer interface [polypeptide binding]"
                     /db_xref="CDD:381012"
     Site            70
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:14760718, ECO:0000269|PubMed:15084671,
                     ECO:0000269|PubMed:16263699, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:16622833, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19838169, ECO:0000269|PubMed:22171320;
                     propagated from UniProtKB/Swiss-Prot (P01009.3)"
     Site            107
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:16622833, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19838169;
                     propagated from UniProtKB/Swiss-Prot (P01009.3)"
     Site            order(248,304,377..385)
                     /site_type="other"
                     /note="trypsin binding site [polypeptide binding]"
                     /db_xref="CDD:381012"
     Site            271
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:14760718, ECO:0000269|PubMed:15084671,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:16622833,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19838169, ECO:0000269|PubMed:22171320;
                     propagated from UniProtKB/Swiss-Prot (P01009.3)"
     Site            352..353
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by Staphylococcus
                     aureus aureolysin/Aur.
                     /evidence=ECO:0000269|PubMed:3533918; propagated from
                     UniProtKB/Swiss-Prot (P01009.3)"
     Site            354..355
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by Staphylococcus
                     aureus serine and cysteine proteinases.
                     /evidence=ECO:0000269|PubMed:3533918; propagated from
                     UniProtKB/Swiss-Prot (P01009.3)"
     Site            368..393
                     /site_type="other"
                     /note="reactive center loop (RCL)"
                     /db_xref="CDD:381012"
     Region          368..392
                     /region_name="RCL"
                     /note="propagated from UniProtKB/Swiss-Prot (P01009.3)"
     mat_peptide     375..418
                     /product="Short peptide from AAT. /id=PRO_0000364030"
                     /note="propagated from UniProtKB/Swiss-Prot (P01009.3)"
                     /calculated_mol_wt=5068
     Site            382..383
                     /site_type="other"
                     /note="Reactive bond; propagated from UniProtKB/Swiss-Prot
                     (P01009.3)"
     Site            383
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P01009.3)"
     CDS             1..418
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /coded_by="NM_001127703.2:480..1736"
                     /db_xref="CCDS:CCDS9925.1"
                     /db_xref="GeneID:5265"
                     /db_xref="HGNC:HGNC:8941"
                     /db_xref="MIM:107400"
ORIGIN      
        1 mpssvswgil llaglcclvp vslaedpqgd aaqktdtshh dqdhptfnki tpnlaefafs
       61 lyrqlahqsn stniffspvs iatafamlsl gtkadthdei leglnfnlte ipeaqihegf
      121 qellrtlnqp dsqlqlttgn glflseglkl vdkfledvkk lyhseaftvn fgdteeakkq
      181 indyvekgtq gkivdlvkel drdtvfalvn yiffkgkwer pfevkdteee dfhvdqvttv
      241 kvpmmkrlgm fniqhckkls swvllmkylg nataifflpd egklqhlene lthdiitkfl
      301 enedrrsasl hlpklsitgt ydlksvlgql gitkvfsnga dlsgvteeap lklskavhka
      361 vltidekgte aagamfleai pmsippevkf nkpfvflmie qntksplfmg kvvnptqk
//
LOCUS       NP_001402078             453 aa            linear   PRI 17-APR-2023
DEFINITION  forkhead box protein O3 isoform 4 [Homo sapiens].
ACCESSION   NP_001402078
VERSION     NP_001402078.1
DBSOURCE    REFSEQ: accession NM_001415149.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 453)
  AUTHORS   Li H, Yuan Y, Dong H, Wang T, Zhang D, Zhou L, Chen L and He X.
  TITLE     Foxo3a-Mediated DNMT3B Impedes Cervical Cancer Cell Proliferation
            and Migration Capacities through Suppressing PTEN Promoter
            Methylation
  JOURNAL   J Invest Surg 36 (1), 2162170 (2023)
   PUBMED   36653180
  REMARK    GeneRIF: Foxo3a-Mediated DNMT3B Impedes Cervical Cancer Cell
            Proliferation and Migration Capacities through Suppressing PTEN
            Promoter Methylation.
REFERENCE   2  (residues 1 to 453)
  AUTHORS   Yang H, Chen Y, Zeng M, Wu H, Zou X, Fang T, Zhai L, Liang H, Luo
            H, Tian G, Liu Q and Tang H.
  TITLE     Long non-coding RNA LINC01480 is activated by Foxo3a and promotes
            hydroquinone-induced TK6 cell apoptosis by inhibiting the PI3K/AKT
            pathway
  JOURNAL   Ecotoxicol Environ Saf 255, 114786 (2023)
   PUBMED   36934544
  REMARK    GeneRIF: Long non-coding RNA LINC01480 is activated by Foxo3a and
            promotes hydroquinone-induced TK6 cell apoptosis by inhibiting the
            PI3K/AKT pathway.
REFERENCE   3  (residues 1 to 453)
  AUTHORS   Rakhshani Nejad A, Sargazi S, Ghasemi M, Samareh Moosavi S, Heidari
            Nia M and Saravani R.
  TITLE     Association study to evaluate Foxo1 and Foxo3 gene polymorphisms in
            polycystic ovary syndrome: a preliminary case-control study and in
            silico analysis
  JOURNAL   Mol Biol Rep 50 (4), 3569-3580 (2023)
   PUBMED   36790598
  REMARK    GeneRIF: Association study to evaluate Foxo1 and Foxo3 gene
            polymorphisms in polycystic ovary syndrome: a preliminary
            case-control study and in silico analysis.
REFERENCE   4  (residues 1 to 453)
  AUTHORS   Omorou M, Huang Y, Gao M, Mu C, Xu W, Han Y and Xu H.
  TITLE     The forkhead box O3 (FOXO3): a key player in the regulation of
            ischemia and reperfusion injury
  JOURNAL   Cell Mol Life Sci 80 (4), 102 (2023)
   PUBMED   36939886
  REMARK    GeneRIF: The forkhead box O3 (FOXO3): a key player in the
            regulation of ischemia and reperfusion injury.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 453)
  AUTHORS   Maiese A, Spina F, Visi G, Del Duca F, De Matteis A, La Russa R, Di
            Paolo M, Frati P and Fineschi V.
  TITLE     The Expression of FOXO3a as a Forensic Diagnostic Tool in Cases of
            Traumatic Brain Injury: An Immunohistochemical Study
  JOURNAL   Int J Mol Sci 24 (3), 2584 (2023)
   PUBMED   36768906
  REMARK    GeneRIF: The Expression of FOXO3a as a Forensic Diagnostic Tool in
            Cases of Traumatic Brain Injury: An Immunohistochemical Study.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 453)
  AUTHORS   Medema RH, Kops GJ, Bos JL and Burgering BM.
  TITLE     AFX-like Forkhead transcription factors mediate cell-cycle
            regulation by Ras and PKB through p27kip1
  JOURNAL   Nature 404 (6779), 782-787 (2000)
   PUBMED   10783894
REFERENCE   7  (residues 1 to 453)
  AUTHORS   Brunet A, Bonni A, Zigmond MJ, Lin MZ, Juo P, Hu LS, Anderson MJ,
            Arden KC, Blenis J and Greenberg ME.
  TITLE     Akt promotes cell survival by phosphorylating and inhibiting a
            Forkhead transcription factor
  JOURNAL   Cell 96 (6), 857-868 (1999)
   PUBMED   10102273
REFERENCE   8  (residues 1 to 453)
  AUTHORS   DaSilva L, Kirken RA, Taub DD, Evans GA, Duhe RJ, Bailey MA and
            Farrar WL.
  TITLE     Molecular cloning of FKHRL1P2, a member of the developmentally
            regulated fork head domain transcription factor family
  JOURNAL   Gene 221 (1), 135-142 (1998)
   PUBMED   9852958
REFERENCE   9  (residues 1 to 453)
  AUTHORS   Anderson MJ, Viars CS, Czekay S, Cavenee WK and Arden KC.
  TITLE     Cloning and characterization of three human forkhead genes that
            comprise an FKHR-like gene subfamily
  JOURNAL   Genomics 47 (2), 187-199 (1998)
   PUBMED   9479491
REFERENCE   10 (residues 1 to 453)
  AUTHORS   Hillion J, Le Coniat M, Jonveaux P, Berger R and Bernard OA.
  TITLE     AF6q21, a novel partner of the MLL gene in t(6;11)(q21;q23),
            defines a forkhead transcriptional factor subfamily
  JOURNAL   Blood 90 (9), 3714-3719 (1997)
   PUBMED   9345057
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL391646.12, AL365509.8 and
            AL096818.9.
            
            Summary: This gene belongs to the forkhead family of transcription
            factors which are characterized by a distinct forkhead domain. This
            gene likely functions as a trigger for apoptosis through expression
            of genes necessary for cell death. Translocation of this gene with
            the MLL gene is associated with secondary acute leukemia.
            Alternatively spliced transcript variants encoding the same protein
            have been observed. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.2197770.1,
                                           SRR14372080.1615636.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153307 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..453
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21"
     Protein         1..453
                     /product="forkhead box protein O3 isoform 4"
                     /note="forkhead, Drosophila, homolog of, in
                     rhabdomyosarcoma-like 1; forkhead homolog
                     (rhabdomyosarcoma) like 1; forkhead box O3A; forkhead box
                     protein O3; forkhead in rhabdomyosarcoma-like 1; FOXO3A-"
                     /calculated_mol_wt=48275
     Region          <1..25
                     /region_name="FH_FOX"
                     /note="Forkhead (FH) domain found in Forkhead box (FOX)
                     family of transcription factors and similar proteins;
                     cl00061"
                     /db_xref="CDD:444675"
     Region          213..288
                     /region_name="FOXO_KIX_bdg"
                     /note="KIX-binding domain of forkhead box O, CR2;
                     pfam16675"
                     /db_xref="CDD:435505"
     Region          386..424
                     /region_name="FOXO-TAD"
                     /note="Transactivation domain of FOXO protein family;
                     pfam16676"
                     /db_xref="CDD:435506"
     CDS             1..453
                     /gene="FOXO3"
                     /gene_synonym="AF6q21; FKHRL1; FKHRL1P2; FOXO2; FOXO3A"
                     /coded_by="NM_001415149.1:207..1568"
                     /note="isoform 4 is encoded by transcript variant 12"
                     /db_xref="GeneID:2309"
                     /db_xref="HGNC:HGNC:3821"
                     /db_xref="MIM:602681"
ORIGIN      
        1 mrvqnegtgk sswwiinpdg gksgkaprrr avsmdnsnky tksrgraakk kaalqtapes
       61 addspsqlsk wpgsptsrss deldawtdfr srtnsnastv sgrlspimas teldevqddd
      121 aplspmlyss saslspsvsk pctvelprlt dmagtmnlnd gltenlmddl ldnitlppsq
      181 psptgglmqr sssfpyttkg sglgsptssf nstvfgpssl nslrqspmqt iqenkpatfs
      241 smshygnqtl qdlltsdsls hsdvmmtqsd plmsqastav saqnsrrnvm lrndpmmsfa
      301 aqpnqgslvn qnllhhqhqt qgalggsral snsvsnmgls essslgsakh qqqspvsqsm
      361 qtlsdslsgs slystsanlp vmghekfpsd ldldmfngsl ecdmesiirs elmdadgldf
      421 nfdslistqn vvglnvgnft gakqassqsw vpg
//
LOCUS       NP_001303848             141 aa            linear   PRI 24-DEC-2022
DEFINITION  Golgi apparatus membrane protein TVP23 homolog B isoform b
            precursor [Homo sapiens].
ACCESSION   NP_001303848
VERSION     NP_001303848.1
DBSOURCE    REFSEQ: accession NM_001316919.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 141)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 141)
  AUTHORS   Wang AL, Rao VR, Chen JJ, Lussier YA, Rehman J, Huang Y, Jager RD
            and Grassi MA.
  TITLE     Role of FAM18B in diabetic retinopathy
  JOURNAL   Mol Vis 20, 1146-1159 (2014)
   PUBMED   25221423
  REMARK    GeneRIF: The role of FAM18B in regulating retinal microvascular
            endothelial cell viability, migration, and endothelial tube
            formation was determined following RNAi-mediated knockdown of
            FAM18B.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX648167.1, AC107982.6 and BC008430.1.
            
            Transcript Variant: This variant (2) uses an alternate first exon
            compared to variant 1. The resulting isoform (b) is shorter at the
            N-terminus compared to isoform a. Variants 2, 3, and 4 all encode
            the same isoform (b).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX648167.1, SRR1660809.150689.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..141
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     Protein         1..141
                     /product="Golgi apparatus membrane protein TVP23 homolog B
                     isoform b precursor"
                     /note="family with sequence similarity 18, member B;
                     protein FAM18B1; family with sequence similarity 18,
                     member B1; Golgi apparatus membrane protein TVP23 homolog
                     B"
                     /calculated_mol_wt=14064
     Region          <1..110
                     /region_name="DUF846"
                     /note="Eukaryotic protein of unknown function (DUF846);
                     pfam05832"
                     /db_xref="CDD:428643"
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2224
     CDS             1..141
                     /gene="TVP23B"
                     /gene_synonym="CGI-148; FAM18B; FAM18B1; NPD008; YDR084C"
                     /coded_by="NM_001316919.1:1417..1842"
                     /note="isoform b precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS82084.1"
                     /db_xref="GeneID:51030"
                     /db_xref="HGNC:HGNC:20399"
ORIGIN      
        1 mvtiilllsc dfwavknvtg rlmvglrwwn hidedgkshw vfesrkessq enktvseaes
       61 rifwlgliac pvlwvifafs alfsfrvkwl avvimgvvlq ganlygyirc kvrsrkhlts
      121 matsyfgkqf lrqntgddqt s
//
LOCUS       NP_689491                100 aa            linear   PRI 24-DEC-2022
DEFINITION  transcription elongation factor A protein-like 7 [Homo sapiens].
ACCESSION   NP_689491
VERSION     NP_689491.1
DBSOURCE    REFSEQ: accession NM_152278.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 100)
  AUTHORS   Yu L, Luan W, Feng Z, Jia J, Wu Z, Wang M, Li F and Li Z.
  TITLE     Long non-coding RNA HAND2-AS1 inhibits gastric cancer progression
            by suppressing TCEAL7 expression via targeting miR-769-5p
  JOURNAL   Dig Liver Dis 53 (2), 238-244 (2021)
   PUBMED   32952069
  REMARK    GeneRIF: Long non-coding RNA HAND2-AS1 inhibits gastric cancer
            progression by suppressing TCEAL7 expression via targeting
            miR-769-5p.
REFERENCE   2  (residues 1 to 100)
  AUTHORS   Yue X, Lan F and Xia T.
  TITLE     Hypoxic Glioma Cell-Secreted Exosomal miR-301a Activates
            Wnt/beta-catenin Signaling and Promotes Radiation Resistance by
            Targeting TCEAL7
  JOURNAL   Mol Ther 27 (11), 1939-1949 (2019)
   PUBMED   31402274
  REMARK    GeneRIF: These results suggest that miR-301a promotes radiation
            resistance by repressing anti-oncogene TCEAL7 expression and then
            activity of the Wnt/beta-catenin-signaling pathway.
REFERENCE   3  (residues 1 to 100)
  AUTHORS   Orhan C, Bulut P, Dalay N, Ersen E and Buyru N.
  TITLE     Downregulation of TCEAL7 expression induces CCND1 expression in
            non-small cell lung cancer
  JOURNAL   Mol Biol Rep 46 (5), 5251-5256 (2019)
   PUBMED   31321645
  REMARK    GeneRIF: Findings show that TCEAL7 expression is down-regulated in
            non-small cell lung cancer (NSCLC) like in other human cancers.
            This down-regulation was also associated with CCND1 over-expression
            in lung tumors.
REFERENCE   4  (residues 1 to 100)
  AUTHORS   Huang CY, Chen YM, Zhao JJ, Chen YB, Jiang SS, Yan SM, Zhao BW, Pan
            K, Wang DD, Lv L, Li YF, Wang W, Zhou ZW and Xia JC.
  TITLE     Decreased expression of transcription elongation factor A-like 7 is
            associated with gastric adenocarcinoma prognosis
  JOURNAL   PLoS One 8 (1), e54671 (2013)
   PUBMED   23372750
  REMARK    GeneRIF: Our study suggests that TCEAL7 might serve as a candidate
            tumor suppressor and a potential prognostic biomarker in gastric
            carcinogenesis.
REFERENCE   5  (residues 1 to 100)
  AUTHORS   Lafferty-Whyte K, Bilsland A, Hoare SF, Burns S, Zaffaroni N,
            Cairney CJ and Keith WN.
  TITLE     TCEAL7 inhibition of c-Myc activity in alternative lengthening of
            telomeres regulates hTERT expression
  JOURNAL   Neoplasia 12 (5), 405-414 (2010)
   PUBMED   20454512
  REMARK    GeneRIF: alteration of TCEAL7 expression levels in
            recombination-based alternative lengthening of telomeres and
            telomerase-positive cells affects hTERT expression
REFERENCE   6  (residues 1 to 100)
  AUTHORS   Chien J, Narita K, Rattan R, Giri S, Shridhar R, Staub J, Beleford
            D, Lai J, Roberts LR, Molina J, Kaufmann SH, Prendergast GC and
            Shridhar V.
  TITLE     A role for candidate tumor-suppressor gene TCEAL7 in the regulation
            of c-Myc activity, cyclin D1 levels and cellular transformation
  JOURNAL   Oncogene 27 (58), 7223-7234 (2008)
   PUBMED   18806825
  REMARK    GeneRIF: A role for candidate tumor-suppressor gene TCEAL7 in the
            regulation of c-Myc activity, cyclin D1 levels and cellular
            transformation is reported.
REFERENCE   7  (residues 1 to 100)
  AUTHORS   Winter EE and Ponting CP.
  TITLE     Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism
            sustained by gene conversion events
  JOURNAL   BMC Evol Biol 5, 54 (2005)
   PUBMED   16221301
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 100)
  AUTHORS   Chien J, Staub J, Avula R, Zhang H, Liu W, Hartmann LC, Kaufmann
            SH, Smith DI and Shridhar V.
  TITLE     Epigenetic silencing of TCEAL7 (Bex4) in ovarian cancer
  JOURNAL   Oncogene 24 (32), 5089-5100 (2005)
   PUBMED   15870691
  REMARK    GeneRIF: TCEAL7 is a cell death regulatory protein that is
            frequently inactivated in ovarian cancers, and may function as a
            tumor suppressor.
REFERENCE   9  (residues 1 to 100)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D,
            Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL,
            Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles
            ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman
            R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P,
            Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E,
            Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA,
            Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A,
            Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM,
            Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N,
            Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford
            EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J,
            Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E,
            Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke
            G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V,
            Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis
            C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H,
            Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ,
            Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL,
            Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert
            J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock
            R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD,
            Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M,
            Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob
            L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S,
            Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A,
            Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L,
            Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD,
            Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall
            J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G,
            Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N,
            Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R,
            Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM,
            Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S,
            Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C,
            Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC,
            Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor
            PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K,
            Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana
            D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A,
            Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G,
            Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL,
            Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D,
            Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ,
            Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M,
            Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T,
            Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   10 (residues 1 to 100)
  AUTHORS   Jia L, Young MF, Powell J, Yang L, Ho NC, Hotchkiss R, Robey PG and
            Francomano CA.
  TITLE     Gene expression profile of human bone marrow stromal cells:
            high-throughput expressed sequence tag sequencing analysis
  JOURNAL   Genomics 79 (1), 7-17 (2002)
   PUBMED   11827452
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA142141.1, DB481725.1, BC016786.1 and AI753521.1.
            
            Transcript Variant: This variant (1) encodes the longer transcript.
            Variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.985170.1,
                                           SRR5189652.121273.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332431.5/ ENSP00000329794.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..100
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.2"
     Protein         1..100
                     /product="transcription elongation factor A protein-like
                     7"
                     /note="TCEA-like protein 7; transcription elongation
                     factor S-II protein-like 7; transcription elongation
                     factor A (SII)-like 7"
                     /calculated_mol_wt=12193
     Region          1..100
                     /region_name="BEX"
                     /note="Brain expressed X-linked like family; pfam04538"
                     /db_xref="CDD:427996"
     Region          1..34
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BRU2.2)"
     CDS             1..100
                     /gene="TCEAL7"
                     /gene_synonym="WEX5"
                     /coded_by="NM_152278.5:212..514"
                     /db_xref="CCDS:CCDS14506.1"
                     /db_xref="GeneID:56849"
                     /db_xref="HGNC:HGNC:28336"
                     /db_xref="MIM:300771"
ORIGIN      
        1 mqkpckeneg kpkcsvpkre ekrpygefer qqtegnfrqr llqsleefke didyrhfkde
       61 emtregdeme rcleeirglr kkfralhsnh rhsrdrpypi
//
LOCUS       NP_061743                932 aa            linear   PRI 25-DEC-2022
DEFINITION  protocadherin gamma-A7 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_061743
VERSION     NP_061743.1
DBSOURCE    REFSEQ: accession NM_018920.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 932)
  AUTHORS   Liu Y, Peng K, Xie R, Zheng J, Guo J, Wei R, Yang H, Cai C and Wei
            Q.
  TITLE     Protocadherin gamma-A7 is down-regulated in colorectal cancer and
            associated with the prognosis in patients with wild-type KRAS
  JOURNAL   Hum Pathol 83, 14-21 (2019)
   PUBMED   30121367
  REMARK    GeneRIF: this study demonstrates that PCDHGA7 is down-regulated in
            colorectal cancer, and its expression level is correlated with
            clinical outcomes in patients with wild-type KRAS
REFERENCE   2  (residues 1 to 932)
  AUTHORS   Wu Q, Zhang T, Cheng JF, Kim Y, Grimwood J, Schmutz J, Dickson M,
            Noonan JP, Zhang MQ, Myers RM and Maniatis T.
  TITLE     Comparative DNA sequence analysis of mouse and human protocadherin
            gene clusters
  JOURNAL   Genome Res 11 (3), 389-404 (2001)
   PUBMED   11230163
REFERENCE   3  (residues 1 to 932)
  AUTHORS   Nollet F, Kools P and van Roy F.
  TITLE     Phylogenetic analysis of the cadherin superfamily allows
            identification of six major subfamilies besides several solitary
            members
  JOURNAL   J Mol Biol 299 (3), 551-572 (2000)
   PUBMED   10835267
  REMARK    Review article
REFERENCE   4  (residues 1 to 932)
  AUTHORS   Yagi T and Takeichi M.
  TITLE     Cadherin superfamily genes: functions, genomic organization, and
            neurologic diversity
  JOURNAL   Genes Dev 14 (10), 1169-1180 (2000)
   PUBMED   10817752
  REMARK    Review article
REFERENCE   5  (residues 1 to 932)
  AUTHORS   Wu Q and Maniatis T.
  TITLE     Large exons encoding multiple ectodomains are a characteristic
            feature of protocadherin genes
  JOURNAL   Proc Natl Acad Sci U S A 97 (7), 3124-3129 (2000)
   PUBMED   10716726
REFERENCE   6  (residues 1 to 932)
  AUTHORS   Wu Q and Maniatis T.
  TITLE     A striking organization of a large family of human neural
            cadherin-like cell adhesion genes
  JOURNAL   Cell 97 (6), 779-790 (1999)
   PUBMED   10380929
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA287863.1 and AF152327.1.
            
            Summary: This gene is a member of the protocadherin gamma gene
            cluster, one of three related clusters tandemly linked on
            chromosome five. These gene clusters have an immunoglobulin-like
            organization, suggesting that a novel mechanism may be involved in
            their regulation and expression. The gamma gene cluster includes 22
            genes divided into 3 subfamilies. Subfamily A contains 12 genes,
            subfamily B contains 7 genes and 2 pseudogenes, and the more
            distantly related subfamily C contains 3 genes. The tandem array of
            22 large, variable region exons are followed by a constant region,
            containing 3 exons shared by all genes in the cluster. Each
            variable region exon encodes the extracellular region, which
            includes 6 cadherin ectodomains and a transmembrane region. The
            constant region exons encode the common cytoplasmic region. These
            neural cadherin-like cell adhesion proteins most likely play a
            critical role in the establishment and function of specific
            cell-cell connections in the brain. Alternative splicing has been
            described for the gamma cluster genes. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) includes the constant region
            exons and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.82626.1, AF152327.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000518325.2/ ENSP00000430024.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..932
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     Protein         1..932
                     /product="protocadherin gamma-A7 isoform 1 precursor"
                     /note="protocadherin gamma-A7"
                     /calculated_mol_wt=98616
     sig_peptide     1..28
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5G6.1)"
                     /calculated_mol_wt=3125
     mat_peptide     29..932
                     /product="Protocadherin gamma-A7. /id=PRO_0000003960"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5G6.1)"
                     /calculated_mol_wt=98616
     Region          31..112
                     /region_name="Cadherin_2"
                     /note="Cadherin-like; pfam08266"
                     /db_xref="CDD:400525"
     Region          137..238
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(144..145,201,203,234,236..237)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          246..343
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(253..254,308,310,339,341..342)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          355..448
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(358..359,411,413,444,446..447)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            419
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5G6.1)"
     Region          456..558
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(463..464,521,523,554,556..557)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            545
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5G6.1)"
     Region          579..666
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Region          688..772
                     /region_name="Cadherin_C_2"
                     /note="Cadherin cytoplasmic C-terminal; pfam16492"
                     /db_xref="CDD:435374"
     Site            693..713
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5G6.1)"
     Region          805..841
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5G6.1)"
     Region          811..>905
                     /region_name="Cadherin_tail"
                     /note="Cadherin C-terminal cytoplasmic tail,
                     catenin-binding region; pfam15974"
                     /db_xref="CDD:435046"
     Region          902..932
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5G6.1)"
     CDS             1..932
                     /gene="PCDHGA7"
                     /gene_synonym="PCDH-GAMMA-A7"
                     /coded_by="NM_018920.4:159..2957"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS54927.1"
                     /db_xref="GeneID:56108"
                     /db_xref="HGNC:HGNC:8705"
                     /db_xref="MIM:606294"
ORIGIN      
        1 maaqprggdy rgffllsill gtpweawagr ilysvseetd kgsfvgdiak dlgleprela
       61 ergvriisrg rtqlfalnqr sgslvtagri dreeicaqsa rclvnfnilm edkmnlypid
      121 veiidindnv prflteeinv kimentapgv rfplseagdp dvgtnslqsy qlspnrhfsl
      181 avqsgddetk ypelvlervl dreeervhhl vltasdggdp prsstahiqv tvvdvndhtp
      241 vfslpqyqvt vpenvpvgtr lltvhaidld egvngevtys frkitpklpk mfhlnsltge
      301 istlegldye etafyemevq aqdgpgsltk akvlitvldv ndnapevtmt slsssipedt
      361 plgtvialfy lqdrdsgkng evtctipenl pfkleksidn yyrlvttknl dretlslyni
      421 tlkatdggtp plsrethifm qvadtndnpp tfphssysvy iaennprgas iflvtaqdhd
      481 sednaqitys laedtiqgap vssyvsinsd tgvlyalqsf dyeqlrelql rvtahdsgdp
      541 plssnmslsl fvldqndnpp eilypalptd gstgmelapr saepgylvtk vvavdkdsgq
      601 nawlsylllk asepglfavg lytgevrtar alldrdalkq slvvavqdhg qpplsatvtl
      661 tvavadsipe vladlgslep sdgpynydlt lylvvavatv scvflafvlv llalrlrrwh
      721 ksrllqaseg glanvptshf vgmdgvqafl qtyshevslt adsrkshlif pqpnyvdmli
      781 sqesceknds lltsvdfqec kenlpsiqqa ppntdwrfsq aqrpgtsgsq ngddtgtwpn
      841 nqfdtemlqa milasaseaa dgsstlggga gtmglsaryg pqftlqhvpd yrqnvyipgs
      901 natltnaagk rdgkapaggn gnkkksgkke kk
//
LOCUS       NP_114416                207 aa            linear   PRI 25-DEC-2022
DEFINITION  TM2 domain-containing protein 1 precursor [Homo sapiens].
ACCESSION   NP_114416
VERSION     NP_114416.1
DBSOURCE    REFSEQ: accession NM_032027.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 207)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 207)
  AUTHORS   Cam JA, Zerbinatti CV, Knisely JM, Hecimovic S, Li Y and Bu G.
  TITLE     The low density lipoprotein receptor-related protein 1B retains
            beta-amyloid precursor protein at the cell surface and reduces
            amyloid-beta peptide production
  JOURNAL   J Biol Chem 279 (28), 29639-29646 (2004)
   PUBMED   15126508
  REMARK    GeneRIF: These findings reveal that low density lipoprotein
            receptor-related protein 1B is a novel binding partner of
            beta-amyloid precursor protein (APP) that functions to decrease APP
            processing to amyloid beta peptides.
REFERENCE   3  (residues 1 to 207)
  AUTHORS   Lee Y, Chang DJ, Lee YS, Chang KA, Kim H, Yoon JS, Lee S, Suh YH
            and Kaang BK.
  TITLE     Beta-amyloid peptide binding protein does not couple to G protein
            in a heterologous Xenopus expression system
  JOURNAL   J Neurosci Res 73 (2), 255-259 (2003)
   PUBMED   12836168
  REMARK    GeneRIF: A two-electrode voltage-clamp technique is used to
            determine that BBP is not directly coupled to G alpha(i/o), G
            alpha(s), or G alpha(q) proteins and that BBP may need a component
            other than amyloid precursor protein to exert its toxic effect with
            A beta.
REFERENCE   4  (residues 1 to 207)
  AUTHORS   Kirfel G, Borm B, Rigort A and Herzog V.
  TITLE     The secretory beta-amyloid precursor protein is a motogen for human
            epidermal keratinocytes
  JOURNAL   Eur J Cell Biol 81 (12), 664-676 (2002)
   PUBMED   12553667
  REMARK    GeneRIF: sAPP increased the proportion of migrating keratinocytes
            and their directional persistence. sAPP appeared to operate
            synergistically with fibronectin with respect to its motogenic
            effect.
REFERENCE   5  (residues 1 to 207)
  AUTHORS   Kajkowski EM, Lo CF, Ning X, Walker S, Sofia HJ, Wang W, Edris W,
            Chanda P, Wagner E, Vile S, Ryan K, McHendry-Rinde B, Smith SC,
            Wood A, Rhodes KJ, Kennedy JD, Bard J, Jacobsen JS and Ozenberger
            BA.
  TITLE     beta -Amyloid peptide-induced apoptosis regulated by a novel
            protein containing a g protein activation module
  JOURNAL   J Biol Chem 276 (22), 18748-18756 (2001)
   PUBMED   11278849
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099791.2.
            
            Summary: The protein encoded by this gene is a beta-amyloid
            peptide-binding protein. It contains a structural module related to
            that of the seven transmembrane domain G protein-coupled receptor
            superfamily and known to be important in heterotrimeric G protein
            activation. Beta-amyloid peptide has been established to be a
            causative factor in neuron death and the consequent diminution of
            cognitive abilities observed in Alzheimer's disease. This protein
            may be a target of neurotoxic beta-amyloid peptide, and may mediate
            cellular vulnerability to beta-amyloid peptide toxicity through a G
            protein-regulated program of cell death. Several transcript
            variants have been found for this gene. [provided by RefSeq, Feb
            2016].
            
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC029486.1, BI464436.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000606498.5/ ENSP00000475700.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..207
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     Protein         1..207
                     /product="TM2 domain-containing protein 1 precursor"
                     /note="TM2 domain-containing protein 1; hBBP;
                     beta-amyloid-binding protein; amyloid-beta-binding
                     protein; Beta-amyloid peptide binding protein"
                     /calculated_mol_wt=18633
     sig_peptide     1..37
                     /calculated_mol_wt=3711
     mat_peptide     38..207
                     /product="TM2 domain-containing protein 1"
                     /calculated_mol_wt=18633
     Site            72
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9BX74.1)"
     Site            87
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9BX74.1)"
     Site            96
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9BX74.1)"
     Region          117..166
                     /region_name="TM2"
                     /note="TM2 domain; pfam05154"
                     /db_xref="CDD:428337"
     Site            119..136
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BX74.1)"
     Site            154..174
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BX74.1)"
     Site            197
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9BX74.1)"
     CDS             1..207
                     /gene="TM2D1"
                     /gene_synonym="BBP"
                     /coded_by="NM_032027.3:22..645"
                     /db_xref="CCDS:CCDS65554.1"
                     /db_xref="GeneID:83941"
                     /db_xref="HGNC:HGNC:24142"
                     /db_xref="MIM:610080"
ORIGIN      
        1 maaawpsgps apeavtarlv gvlwfvsvtt gpwgavatsa ggeeslkced lkvgqyickd
       61 pkindatqep vnctnytahv scfpapnitc kdssgnethf tgnevgffkp iscrnvngys
      121 ykvavalslf lgwlgadrfy lgypalgllk fctvgfcgig slidfilism qivgpsdgss
      181 yiidyygtrl trlsitnetf rktqlyp
//
LOCUS       NP_001310307             405 aa            linear   PRI 26-DEC-2022
DEFINITION  dematin isoform 1 [Homo sapiens].
ACCESSION   NP_001310307 XP_005273488
VERSION     NP_001310307.1
DBSOURCE    REFSEQ: accession NM_001323378.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 405)
  AUTHORS   Wang M, Chen B, Zhang W, Zhang F, Qiu Y, Lin Y and Yang S.
  TITLE     Dematin inhibits glioblastoma malignancy through RhoA-mediated CDKs
            downregulation and cytoskeleton remodeling
  JOURNAL   Exp Cell Res 417 (1), 113196 (2022)
   PUBMED   35561787
  REMARK    GeneRIF: Dematin inhibits glioblastoma malignancy through
            RhoA-mediated CDKs downregulation and cytoskeleton remodeling.
REFERENCE   2  (residues 1 to 405)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 405)
  AUTHORS   Brandt GS and Bailey S.
  TITLE     Dematin, a human erythrocyte cytoskeletal protein, is a substrate
            for a recombinant FIKK kinase from Plasmodium falciparum
  JOURNAL   Mol Biochem Parasitol 191 (1), 20-23 (2013)
   PUBMED   23973789
REFERENCE   4  (residues 1 to 405)
  AUTHORS   Chen L, Brown JW, Mok YF, Hatters DM and McKnight CJ.
  TITLE     The allosteric mechanism induced by protein kinase A (PKA)
            phosphorylation of dematin (band 4.9)
  JOURNAL   J Biol Chem 288 (12), 8313-8320 (2013)
   PUBMED   23355471
  REMARK    GeneRIF: When unphosphorylated, dematin's two F-actin binding
            domains move independent of one another permitting them to bind
            different F-actin filaments.
            Erratum:[J Biol Chem. 2015 Jul 17;290(29):17808. PMID: 26188045]
REFERENCE   5  (residues 1 to 405)
  AUTHORS   Mohseni,M. and Chishti,A.H.
  TITLE     Erythrocyte dematin is a candidate gene for Marie Unna hereditary
            hypotrichosis and related hairloss disorders
  JOURNAL   Am J Hematol 83 (5), 430-432 (2008)
   PUBMED   18273904
REFERENCE   6  (residues 1 to 405)
  AUTHORS   Lutchman M, Kim AC, Cheng L, Whitehead IP, Oh SS, Hanspal M,
            Boukharov AA, Hanada T and Chishti AH.
  TITLE     Dematin interacts with the Ras-guanine nucleotide exchange factor
            Ras-GRF2 and modulates mitogen-activated protein kinase pathways
  JOURNAL   Eur J Biochem 269 (2), 638-649 (2002)
   PUBMED   11856323
REFERENCE   7  (residues 1 to 405)
  AUTHORS   Lutchman M, Pack S, Kim AC, Azim A, Emmert-Buck M, van Huffel C,
            Zhuang Z and Chishti AH.
  TITLE     Loss of heterozygosity on 8p in prostate cancer implicates a role
            for dematin in tumor progression
  JOURNAL   Cancer Genet Cytogenet 115 (1), 65-69 (1999)
   PUBMED   10565303
REFERENCE   8  (residues 1 to 405)
  AUTHORS   Azim AC, Marfatia SM, Korsgren C, Dotimas E, Cohen CM and Chishti
            AH.
  TITLE     Human erythrocyte dematin and protein 4.2 (pallidin) are ATP
            binding proteins
  JOURNAL   Biochemistry 35 (9), 3001-3006 (1996)
   PUBMED   8608138
REFERENCE   9  (residues 1 to 405)
  AUTHORS   Azim AC, Knoll JH, Beggs AH and Chishti AH.
  TITLE     Isoform cloning, actin binding, and chromosomal localization of
            human erythroid dematin, a member of the villin superfamily
  JOURNAL   J Biol Chem 270 (29), 17407-17413 (1995)
   PUBMED   7615546
REFERENCE   10 (residues 1 to 405)
  AUTHORS   Rana AP, Ruff P, Maalouf GJ, Speicher DW and Chishti AH.
  TITLE     Cloning of human erythroid dematin reveals another member of the
            villin family
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6651-6655 (1993)
   PUBMED   8341682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA521027.1, DA170493.1,
            DA267327.1, BC006318.2, BI222385.1 and BC052805.1.
            On Apr 20, 2016 this sequence version replaced XP_005273488.1.
            
            Summary: The protein encoded by this gene is an actin binding and
            bundling protein that plays a structural role in erythrocytes, by
            stabilizing and attaching the spectrin/actin cytoskeleton to the
            erythrocyte membrane in a phosphorylation-dependent manner. This
            protein contains a core domain in the N-terminus, and a headpiece
            domain in the C-terminus that binds F-actin. When purified from
            erythrocytes, this protein exists as a trimer composed of two 48
            kDa polypeptides and a 52 kDa polypeptide. The different subunits
            arise from alternative splicing in the 3' coding region, where the
            headpiece domain is located. Disruption of this gene has been
            correlated with the autosomal dominant Marie Unna hereditary
            hypotrichosis disease, while loss of heterozygosity of this gene is
            thought to play a role in prostate cancer progression. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Nov 2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.147681.1,
                                           SRR1660803.62767.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..405
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     Protein         1..405
                     /product="dematin isoform 1"
                     /note="erythrocyte membrane protein band 4.9 (dematin)"
                     /calculated_mol_wt=45383
     Region          1..30
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08495.3)"
     Site            16
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q08495.3)"
     Site            18
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q08495.3)"
     Site            26
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q08495.3)"
     Region          79..158
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08495.3)"
     Site            92
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q08495.3)"
     Site            96
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q08495.3)"
     Site            105
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q08495.3)"
     Site            110
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9WV69; propagated from
                     UniProtKB/Swiss-Prot (Q08495.3)"
     Site            113
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9WV69; propagated from
                     UniProtKB/Swiss-Prot (Q08495.3)"
     Site            156
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087; propagated from
                     UniProtKB/Swiss-Prot (Q08495.3)"
     Region          173..192
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08495.3)"
     Region          203..332
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08495.3)"
     Region          224..308
                     /region_name="Interaction with RASGRF2.
                     /evidence=ECO:0000269|PubMed:11856323"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08495.3)"
     Site            226
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:18318008, ECO:0007744|PubMed:19367720,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q08495.3)"
     Site            269
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q08495.3)"
     Site            279
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q08495.3)"
     Site            289
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q08495.3)"
     Site            303
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q08495.3)"
     Site            315
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9WV69; propagated from
                     UniProtKB/Swiss-Prot (Q08495.3)"
     Site            333
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q08495.3)"
     Site            372
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q08495.3)"
     Site            383
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q08495.3)"
     Site            403
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:16472756,
                     ECO:0000269|PubMed:22927433, ECO:0000269|PubMed:23355471;
                     propagated from UniProtKB/Swiss-Prot (Q08495.3)"
     CDS             1..405
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /coded_by="NM_001323378.2:273..1490"
                     /note="isoform 1 is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS6020.1"
                     /db_xref="GeneID:2039"
                     /db_xref="HGNC:HGNC:3382"
                     /db_xref="MIM:125305"
ORIGIN      
        1 merlqkqplt spgsvspsrd ssvpgspssi vakmdnqvlg ykdlaaipkd kaildierpd
       61 lmiyephfty sllehvelpr srerslspks tspppspevw adsrspgiis qasaprttgt
      121 prtslphfhh petsrpdsni ykkppiykqr esvggspqtk hliedliies skfpaaqppd
      181 pnqpakietd ywpcppslav vetewrkrka srrgaeeeee eedddsgeem kalrerqree
      241 lskvtsnlgk milkeemeks lpirrktrsl pdrtpfhtsl hqgtsksssl paygrttlsr
      301 lqstefspsg setgspglqn gegqrgrmdr gnslpcvleq kiypyemlvv tnkgrtklpp
      361 gvdrmrlerh lsaedfsrvf amspeefgkl alwkrnelkk kaslf
//
LOCUS       NP_115997               2567 aa            linear   PRI 27-DEC-2022
DEFINITION  unconventional myosin-XVIIIb isoform 2 [Homo sapiens].
ACCESSION   NP_115997
VERSION     NP_115997.5
DBSOURCE    REFSEQ: accession NM_032608.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2567)
  AUTHORS   Cao C, Zhang C, Sun Y, Mu Z and Shen Q.
  TITLE     Myosin18B predicts favorable prognosis of cutaneous squamous-cell
            carcinoma
  JOURNAL   Genes Genomics 43 (4), 371-378 (2021)
   PUBMED   33555505
  REMARK    GeneRIF: Myosin18B predicts favorable prognosis of cutaneous
            squamous-cell carcinoma.
REFERENCE   2  (residues 1 to 2567)
  AUTHORS   Altuame FD, Haldeman-Englert C, Cupler E, Al Muhaizea MA, Al-Zaidan
            HI, Hashem M and Alkuraya FS.
  TITLE     Further delineation of MYO18B-related autosomal recessive
            Klippel-Feil syndrome with myopathy and facial dysmorphism
  JOURNAL   Am J Med Genet A 185 (2), 370-376 (2021)
   PUBMED   33179433
  REMARK    GeneRIF: Further delineation of MYO18B-related autosomal recessive
            Klippel-Feil syndrome with myopathy and facial dysmorphism.
REFERENCE   3  (residues 1 to 2567)
  AUTHORS   Latham SL, Weiss N, Schwanke K, Thiel C, Croucher DR, Zweigerdt R,
            Manstein DJ and Taft MH.
  TITLE     Myosin-18B Regulates Higher-Order Organization of the Cardiac
            Sarcomere through Thin Filament Cross-Linking and Thick Filament
            Dynamics
  JOURNAL   Cell Rep 32 (9), 108090 (2020)
   PUBMED   32877672
  REMARK    GeneRIF: Myosin-18B Regulates Higher-Order Organization of the
            Cardiac Sarcomere through Thin Filament Cross-Linking and Thick
            Filament Dynamics.
REFERENCE   4  (residues 1 to 2567)
  AUTHORS   Jiu Y, Kumari R, Fenix AM, Schaible N, Liu X, Varjosalo M, Krishnan
            R, Burnette DT and Lappalainen P.
  TITLE     Myosin-18B Promotes the Assembly of Myosin II Stacks for Maturation
            of Contractile Actomyosin Bundles
  JOURNAL   Curr Biol 29 (1), 81-92 (2019)
   PUBMED   30581023
  REMARK    GeneRIF: The results reveal a critical role for myosin-18B in
            myosin II stack assembly and provide evidence that myosin II stacks
            are important for a variety of vital processes in cells.
REFERENCE   5  (residues 1 to 2567)
  AUTHORS   Zhang Z, Zhu J, Huang Y, Li W and Cheng H.
  TITLE     MYO18B promotes hepatocellular carcinoma progression by activating
            PI3K/AKT/mTOR signaling pathway
  JOURNAL   Diagn Pathol 13 (1), 85 (2018)
   PUBMED   30390677
  REMARK    GeneRIF: MYO18B promoted hepatocellular carcinoma growth and
            migration via the activation of PI3K/AKT/mTOR signaling pathway.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 2567)
  AUTHORS   Yanaihara N, Nishioka M, Kohno T, Otsuka A, Okamoto A, Ochiai K,
            Tanaka T and Yokota J.
  TITLE     Reduced expression of MYO18B, a candidate tumor-suppressor gene on
            chromosome arm 22q, in ovarian cancer
  JOURNAL   Int J Cancer 112 (1), 150-154 (2004)
   PUBMED   15305387
  REMARK    GeneRIF: MYO18B alterations, including both epigenetic and genetic
            alterations, play an important role in ovarian carcinogenesis
REFERENCE   7  (residues 1 to 2567)
  AUTHORS   Salamon M, Millino C, Raffaello A, Mongillo M, Sandri C, Bean C,
            Negrisolo E, Pallavicini A, Valle G, Zaccolo M, Schiaffino S and
            Lanfranchi G.
  TITLE     Human MYO18B, a novel unconventional myosin heavy chain expressed
            in striated muscles moves into the myonuclei upon differentiation
  JOURNAL   J Mol Biol 326 (1), 137-149 (2003)
   PUBMED   12547197
  REMARK    GeneRIF: Human MYO18B, a novel unconventional myosin heavy chain
            expressed in striated muscles moves into the myonuclei upon
            differentiation
REFERENCE   8  (residues 1 to 2567)
  AUTHORS   Yokota J, Nishioka M, Tani M and Kohno T.
  TITLE     Genetic alterations responsible for metastatic phenotypes of lung
            cancer cells
  JOURNAL   Clin Exp Metastasis 20 (3), 189-193 (2003)
   PUBMED   12741677
  REMARK    Review article
REFERENCE   9  (residues 1 to 2567)
  AUTHORS   Nishioka M, Kohno T, Tani M, Yanaihara N, Tomizawa Y, Otsuka A,
            Sasaki S, Kobayashi K, Niki T, Maeshima A, Sekido Y, Minna JD, Sone
            S and Yokota J.
  TITLE     MYO18B, a candidate tumor suppressor gene at chromosome 22q12.1,
            deleted, mutated, and methylated in human lung cancer
  JOURNAL   Proc Natl Acad Sci U S A 99 (19), 12269-12274 (2002)
   PUBMED   12209013
  REMARK    GeneRIF: candidate tumor suppressor gene at chromosome 22q12.1,
            deleted, mutated, and methylated in human lung cancer
REFERENCE   10 (residues 1 to 2567)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB075376.1, AJ310931.2 and
            AL079300.11.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 17, 2004 this sequence version replaced NP_115997.4.
            
            Summary: The protein encoded by this gene may regulate
            muscle-specific genes when in the nucleus and may influence
            intracellular trafficking when in the cytoplasm. The encoded
            protein functions as a homodimer and may interact with F actin.
            Mutations in this gene are associated with lung cancer. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region compared to variant 1. The
            encoded isoform (2) is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ310931.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149004, SAMEA2151741
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335473.12/ ENSP00000334563.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2567
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.1"
     Protein         1..2567
                     /product="unconventional myosin-XVIIIb isoform 2"
                     /note="myosin 18B; unconventional myosin-XVIIIb"
                     /calculated_mol_wt=285085
     Region          41..508
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUG5.2)"
     Region          <221..513
                     /region_name="2A1904"
                     /note="K+-dependent Na+/Ca+ exchanger; TIGR00927"
                     /db_xref="CDD:273344"
     Region          510..2086
                     /region_name="COG5022"
                     /note="Myosin heavy chain [General function prediction
                     only]"
                     /db_xref="CDD:227355"
     Region          585..1321
                     /region_name="MYSc_Myo18"
                     /note="class XVIII myosin, motor domain; cd01386"
                     /db_xref="CDD:276837"
     Site            order(613,620,660..667,706..716,945..950)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276837"
     Site            order(613,620)
                     /site_type="other"
                     /note="purine-binding loop"
                     /db_xref="CDD:276837"
     Site            660..667
                     /site_type="other"
                     /note="P-loop"
                     /db_xref="CDD:276837"
     Site            706..716
                     /site_type="other"
                     /note="switch I region"
                     /db_xref="CDD:276837"
     Site            945..950
                     /site_type="other"
                     /note="switch II region"
                     /db_xref="CDD:276837"
     Site            order(980..991,994..1003)
                     /site_type="active"
                     /note="relay loop [active]"
                     /db_xref="CDD:276837"
     Region          1208..1232
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUG5.2)"
     Region          1213..1240
                     /region_name="GPA. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUG5.2)"
     Site            1216
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IUG5.2)"
     Site            1248..1257
                     /site_type="other"
                     /note="SH1 helix"
                     /db_xref="CDD:276837"
     Site            order(1260..1278,1291..1321)
                     /site_type="other"
                     /note="converter subdomain"
                     /db_xref="CDD:276837"
     Region          1426..2083
                     /region_name="Tail"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUG5.2)"
     Site            1829
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8IUG5.2)"
     Region          2139..2194
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUG5.2)"
     Site            2193
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IUG5.2)"
     Region          2217..2249
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUG5.2)"
     Site            2296
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IUG5.2)"
     Site            2309
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IUG5.2)"
     Region          2357..2376
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUG5.2)"
     Site            2377
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IUG5.2)"
     Region          2444..2471
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUG5.2)"
     Region          2494..2567
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUG5.2)"
     CDS             1..2567
                     /gene="MYO18B"
                     /gene_synonym="KFS4"
                     /coded_by="NM_032608.7:216..7919"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS54507.1"
                     /db_xref="GeneID:84700"
                     /db_xref="HGNC:HGNC:18150"
                     /db_xref="MIM:607295"
ORIGIN      
        1 maissrlalw eqkireedks pppssppplf svipggfikq lvrgtekeak earqrkqlav
       61 aspereipei sisqpnskss sgtrsgsqqi sqddqssspg ssdilgkese gsrspdpeqm
      121 tsingekaqe lgssatptkk tvpfkrgvrr gdvllmvakl dpdsakpekt hphdappckt
      181 sppatdtgke kkgetsrtpc gsqasteila pkaektrtgg lgdpgqgtva lkkgeegqsi
      241 vgkglgtpkt telkeaepqg kdrqgtrpqa qgpgegvrpg kaekegaept ntvekgnvsk
      301 dvgsegkhvr pqipgrkwgg flgrrskwdg pqnkkdkegv llskaektge pqtqmektsq
      361 vqgelgddlr mgekagelrs ttgkageswd kkekmgqpqg ksgnagears qtekgceapk
      421 evstmvespa apgkggwpgs rgqeaeepcs ragdgagale telegpsqpa lekdaerpri
      481 rkenqdgpap qeegkggqsr dsdqapedrw yeaekvwlaq kdgftlatvl kpdegtadlp
      541 agrvrlwida dktitevdee hvhranppel dqvedlasli svnessvlnt llqrykaqll
      601 htctgpdliv lqprgpsvps agkvpkgrrd glpahigsma qraywallnq rrdqsivalg
      661 wsgagkttcc eqvlehlvgm agsvdgrvsv ekiratftvl rafgsvsmah srsatrfsmv
      721 msldfnatgr itaaqlqtml leksrvarqp egesnflvfs qmlagldldl rtelnlhqma
      781 dsssfgmgvw skpedkqkaa aafaqlqgam emlgiseseq ravwrvlaai yhlgaagack
      841 vgrkqfmrfe wanyaaealg ceyeelntat fkhhlrqiiq qmtfgpsrwg ledeetssgl
      901 kmtgvdcveg masglyqelf aavvslinrs fsshhlsmas imvvdspgfq nprhqgkdra
      961 atfeelchny aherlqllfy qrtfvstlqr yqeegvpvqf dlpdpspgtt vavvdqnpsq
     1021 vrlpagggaq darglfwvld eevhvegssd svvlerlcaa fekkgagteg ssalrtceqp
     1081 lqceifhqlg wdpvrydltg wlhrakpnls aldapqvlhq skreelrslf qaraklppvc
     1141 ravaglegts qqalqrsrmv rrtfasslaa vrrkapcsqi klqmdaltsm ikrsrlhfih
     1201 clvpnpvves rsgqespppp qpgrdkpgag gplaldipal rvqlagfhil ealrlhrtgy
     1261 adhmgltrfr rqfqvldapl lkklmstseg iderkaveel letldlekka vavghsqvfl
     1321 kagvisrlek qreklvsqsi vlfqaackgf lsrqefkklk irrlaaqciq knvavflavk
     1381 dwpwwqllgs lqpllsatig teqlrakeee lttlrrklek seklrnelrq ntdlleskia
     1441 dltsdlader fkgdvacqvl eseraerlqa frevqelksk heqvqkklgd vnkqleeaqq
     1501 kiqlndlern ptggadewqm rfdcaqmene flrkrlqqce erldseltar keleqklgel
     1561 qsaydgakkm ahqlkrkchh ltcdledtcv llenqqsrnh elekkqkkfd lqlaqalges
     1621 vfekglrekv tqentsvrwe lgqlqqqlkq keqeasqlkq qvemlqdhkr ellgspslge
     1681 ncvaglkerl wklessaleq qkiqsqqent ikqleqlrqr feleiermkq mhqkdredqe
     1741 eeledvrqsc qkrlhqlemq leqeyeekqm vlhekqdleg ligtlcdqig hrdfdvekrl
     1801 rrdlrrthal lsdvqlllgt medgktsvsk eelekvhsql eqseakceea lktqkvltad
     1861 lesmhselen mtrnkslvde qlyrlqfeka dllkridedq ddlnelmqkh kdliaqsaad
     1921 igqiqelqlq leeakkekhk lqeqlqvaqm rieyleqstv draivsrqea vicdlenkte
     1981 fqkvqikrfe vlvirlrdsl ikmgeelsqa atsesqqres sqyyqrrlee lkadmeelvq
     2041 reaeasrrcm elekyveela avrqtlqtdl etsirriadl qaaleevass dsdtesvqta
     2101 vdcgssgrke mdnvsilssq pegslqswls ctlslatdtm rtpsrqsats srilsprine
     2161 eagdtertqs alalsrarst nvhsktsgdk pvsphfvrrq kychfgdgev lavqrkster
     2221 lepassplas rstntsplsr eklpspsaal sefveglrrk raqrgqgstl gledwptlpi
     2281 yqttgastlr rgragsdegn lslrvgaksp leiegaaggl lrstslkcis sdgvggttll
     2341 peksktqfss cesllesrps mgrklssptt prdmllsptl rprrrcless vddagcpdlg
     2401 keplvfqnrq fahlmeeplg sdpfswklps ldyerktkvd fddflpairk pqtptslags
     2461 akggqdgsqr ssihfeteea nrsflsgikt ilkkspepke dpahlsdsss ssgsivsfks
     2521 adsiksrpgi prlagdgger tsperrepgt grkdddvasi mkkylqk
//
LOCUS       NP_001316728            1425 aa            linear   PRI 27-DEC-2022
DEFINITION  pleckstrin homology domain-containing family G member 1 isoform b
            [Homo sapiens].
ACCESSION   NP_001316728
VERSION     NP_001316728.1
DBSOURCE    REFSEQ: accession NM_001329799.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1425)
  AUTHORS   Traylor M, Tozer DJ, Croall ID, Lisiecka-Ford DM, Olorunda AO,
            Boncoraglio G, Dichgans M, Lemmens R, Rosand J, Rost NS, Rothwell
            PM, Sudlow CLM, Thijs V, Rutten-Jacobs L and Markus HS.
  CONSRTM   International Stroke Genetics Consortium
  TITLE     Genetic variation in PLEKHG1 is associated with white matter
            hyperintensities (n = 11,226)
  JOURNAL   Neurology 92 (8), e749-e757 (2019)
   PUBMED   30659137
  REMARK    GeneRIF: Genetic variation in PLEKHG1 is associated with white
            matter hyperintensities and ischemic stroke, most strongly with the
            small vessel subtype, suggesting it acts by promoting small vessel
            arteriopathy.
            Erratum:[Neurology. 2019 Sep 24;93(13):608. PMID: 31551276]
REFERENCE   2  (residues 1 to 1425)
  AUTHORS   Gray KJ, Kovacheva VP, Mirzakhani H, Bjonnes AC, Almoguera B, DeWan
            AT, Triche EW, Saftlas AF, Hoh J, Bodian DL, Klein E, Huddleston
            KC, Ingles SA, Lockwood CJ, Hakonarson H, McElrath TF, Murray JC,
            Wilson ML, Norwitz ER, Karumanchi SA, Bateman BT, Keating BJ and
            Saxena R.
  TITLE     Gene-Centric Analysis of Preeclampsia Identifies Maternal
            Association at PLEKHG1
  JOURNAL   Hypertension 72 (2), 408-416 (2018)
   PUBMED   29967039
  REMARK    GeneRIF: PLEKHG1 rs9478812 variant substantially increases risk of
            preeclampsia.
REFERENCE   3  (residues 1 to 1425)
  AUTHORS   Lei SF, Papasian CJ and Deng HW.
  TITLE     Polymorphisms in predicted miRNA binding sites and osteoporosis
  JOURNAL   J Bone Miner Res 26 (1), 72-78 (2011)
   PUBMED   20641033
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL450344.4, AL450339.5 and AL035086.12.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMN02400288
                              [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1425
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1"
     Protein         1..1425
                     /product="pleckstrin homology domain-containing family G
                     member 1 isoform b"
                     /note="pleckstrin homology domain containing, family G
                     (with RhoGef domain) member 1"
                     /calculated_mol_wt=159784
     Region          157..331
                     /region_name="RhoGEF"
                     /note="RhoGEF domain; pfam00621"
                     /db_xref="CDD:425783"
     Site            order(160,164,256,282..283,286..287,289..290,293..294,
                     297..298,301,327,331)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          313..458
                     /region_name="PH_PLEKHG1_G2_G3"
                     /note="Pleckstrin homology domain-containing family G
                     members 1, 2, and 3 pleckstrin homology (PH) domain;
                     cd13243"
                     /db_xref="CDD:270063"
     CDS             1..1425
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /coded_by="NM_001329799.2:112..4389"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="GeneID:57480"
                     /db_xref="HGNC:HGNC:20884"
                     /db_xref="MIM:620134"
ORIGIN      
        1 mrsrpspdgh qlrlevpsav tkvphpktta rrscpqelkt melsdsdrpv sfgstsssas
       61 srdshgsfgs rmtlvsnshm glfnqdkevg aiklelipar pfssselqrd npatgqqnad
      121 egserppraq wrvdsngapk tiadsatspk llyvdrvvqe iletertyvq dlksivedyl
      181 dcirdqtklp lgteersalf gniqdiyhfn sellqdlenc endpvaiaec fvskseefhi
      241 ytqyctnypr svavltecmr nkilakffre rqetlkhslp lgsyllkpvq rilkyhlllh
      301 eienhldkdt egydvvldai dtmqrvawhi ndmkrkheha vrlqeiqsll tnwkgpdlts
      361 ygelvlegtf riqraknert lflfdkllli tkkrddtfty kahilcgnlm lvevipkepl
      421 sfsvfhyknp klqhtvqaks qqdkrlwvlh lkrlilenha akipakakqa ilemdaihhp
      481 gfcyspeggt kalfgskegs apyrlrrkse pssrshkvlk tsetaqdiqk vsreegspql
      541 ssarpspaqr nsqpssstmi svlraggalr niwtdhqirq alfpsrrspq eneddeddyq
      601 mfvpsfsssd lnstrlceds tssrpcswhm gqmestetss sghrivrras sagesntcpp
      661 eigtsdrtre lqnspktegq eemtpfgssi eltiddidhv ydnisyedlk lmvakreeae
      721 stpsksards vrpkstpela ftkrqaghsk gslyaqtdgt lsggeassqs thelqaveen
      781 iydtiglpdp pslgfkcssl krakrstflg leadfvccds lrpfvsqdsl qlsedeapyh
      841 qatpdhgyls llydspsgnl smphkpvsdk lseevdeiwn dlenyikkne dkardrllaa
      901 fpvskddvpd rlhaestpel srdvgrsvst lslpesqall tpvksragra srancpfeed
      961 liskegsfms lnrlslasem plmdnpydla nsglsqtdpe npdlgmeatd ktksrvfmma
     1021 rqysqkikka nqllkvksle leqppasqhq ksmhkdlaai leekkqggpa igariaeysq
     1081 lydqivfres plkiqkdgwa spqessllrs vspsqvhhgs gdwllhstys ngeladfclp
     1141 peqdlrsryp tfeintkstp rqlsaacsvp slqtsdplpg svqrcsvvvs qpnkenwcqd
     1201 hlynslgrkg isaksqpyhr sqssssvlin ksmdsinyps dvgkqqllsl hrssrceshq
     1261 dllpdiadsh qqgteklsdl tlqdsqkvvv vnrnlplnaq iatqnyfsnf ketdgdeddy
     1321 veikseedes elelshnrrr ksdskfvdad fsdnvcsgnt lhslnsprtp kkpvnsklgl
     1381 spyltpynds dklndylwrg pspnqqnivq slrekfqcls sssfa
//
LOCUS       NP_001276919             187 aa            linear   PRI 30-DEC-2022
DEFINITION  V-type proton ATPase subunit e 2 isoform 3 [Homo sapiens].
ACCESSION   NP_001276919 XP_005250015
VERSION     NP_001276919.2
DBSOURCE    REFSEQ: accession NM_001289990.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 187)
  AUTHORS   Hohn A, Sittig A, Jung T, Grimm S and Grune T.
  TITLE     Lipofuscin is formed independently of macroautophagy and lysosomal
            activity in stress-induced prematurely senescent human fibroblasts
  JOURNAL   Free Radic Biol Med 53 (9), 1760-1769 (2012)
   PUBMED   22982048
REFERENCE   2  (residues 1 to 187)
  AUTHORS   Adachi K, Oiwa K, Nishizaka T, Furuike S, Noji H, Itoh H, Yoshida M
            and Kinosita K Jr.
  TITLE     Coupling of rotation and catalysis in F(1)-ATPase revealed by
            single-molecule imaging and manipulation
  JOURNAL   Cell 130 (2), 309-321 (2007)
   PUBMED   17662945
REFERENCE   3  (residues 1 to 187)
  AUTHORS   Blake-Palmer KG, Su Y, Smith AN and Karet FE.
  TITLE     Molecular cloning and characterization of a novel form of the human
            vacuolar H+-ATPase e-subunit: an essential proton pump component
  JOURNAL   Gene 393 (1-2), 94-100 (2007)
   PUBMED   17350184
  REMARK    GeneRIF: The identification of this novel form of the e-subunit
            lends further support to the hypothesis that subunit differences
            may play a key role in the structure, site and function of
            H(+)-ATPases within the cell.[ATPV0E2]
REFERENCE   4  (residues 1 to 187)
  AUTHORS   Dautry-Varsat,A.
  TITLE     Receptor-mediated endocytosis: the intracellular journey of
            transferrin and its receptor
  JOURNAL   Biochimie 68 (3), 375-381 (1986)
   PUBMED   2874839
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093458.6.
            On Sep 21, 2020 this sequence version replaced NP_001276919.1.
            
            Summary: Multisubunit vacuolar-type proton pumps, or H(+)-ATPases,
            acidify various intracellular compartments, such as vacuoles,
            clathrin-coated and synaptic vesicles, endosomes, lysosomes, and
            chromaffin granules. H(+)-ATPases are also found in plasma
            membranes of specialized cells, where they play roles in urinary
            acidification, bone resorption, and sperm maturation. Multiple
            subunits form H(+)-ATPases, with proteins of the V1 class
            hydrolyzing ATP for energy to transport H+, and proteins of the V0
            class forming an integral membrane domain through which H+ is
            transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e
            subunit, an essential proton pump component (Blake-Palmer et al.,
            2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (3) uses an alternate splice site
            in the 3' coding region, which results in a frameshift, compared to
            variant 1. The encoded protein (isoform 3) has a longer and
            distinct C-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK098362.1, SRR14038195.12533.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..187
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     Protein         1..187
                     /product="V-type proton ATPase subunit e 2 isoform 3"
                     /note="V-type proton ATPase subunit e 2; vacuolar
                     proton-ATPase subunit; H+-ATPase e2 subunit; V-ATPase
                     subunit e 2; vacuolar proton pump subunit e 2; lysosomal 9
                     kDa H(+)-transporting ATPase V0 subunit e2; V-ATPase
                     subunit e1"
                     /calculated_mol_wt=19419
     Site            8..28
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHE4.1)"
     Region          9..67
                     /region_name="ATP_synt_H"
                     /note="ATP synthase subunit H; pfam05493"
                     /db_xref="CDD:428492"
     Site            36..56
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHE4.1)"
     Site            70
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NHE4.1)"
     CDS             1..187
                     /gene="ATP6V0E2"
                     /gene_synonym="ATP6V0E2L; C7orf32"
                     /coded_by="NM_001289990.2:98..661"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS94229.1"
                     /db_xref="GeneID:155066"
                     /db_xref="HGNC:HGNC:21723"
                     /db_xref="MIM:611019"
ORIGIN      
        1 mtahsfalpv iifttfwglv giagpwfvpk gpnrgviitm lvatavccyl fwliailaql
       61 nplfgpqlkn etiwcpalgm tvaplslttp ssgpsptqlc lvtsslllap rdpdpqglpg
      121 swkssqssqp aralgspghs sgrgdvllqy phcsgvcpls qgdaagelvw vgsfplqtgq
      181 mpglsps
//
LOCUS       NP_001269119             481 aa            linear   PRI 31-DEC-2022
DEFINITION  zinc finger C3HC-type protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001269119 XP_005250459
VERSION     NP_001269119.1
DBSOURCE    REFSEQ: accession NM_001282190.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 481)
  AUTHORS   Gunkel P, Iino H, Krull S and Cordes VC.
  TITLE     ZC3HC1 Is a Novel Inherent Component of the Nuclear Basket,
            Resident in a State of Reciprocal Dependence with TPR
  JOURNAL   Cells 10 (8), 1937 (2021)
   PUBMED   34440706
  REMARK    GeneRIF: ZC3HC1 Is a Novel Inherent Component of the Nuclear
            Basket, Resident in a State of Reciprocal Dependence with TPR.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 481)
  AUTHORS   Ma H, He Y, Bai M, Zhu L, He X, Wang L and Jin T.
  TITLE     The genetic polymorphisms of ZC3HC1 and SMARCA4 are associated with
            hypertension risk
  JOURNAL   Mol Genet Genomic Med 7 (11), e942 (2019)
   PUBMED   31507094
  REMARK    GeneRIF: The Single Nucleotide Polymorphism of rs1464890 in ZC3HC1
            is protective in hypertension.
REFERENCE   3  (residues 1 to 481)
  AUTHORS   Jafaripour S, Sasanejad P, Dadgarmoghaddam M and Sadr-Nabavi A.
  TITLE     ADAMTS7 and ZC3HC1 Share Genetic Predisposition to Coronary Artery
            Disease and Large Artery Ischemic Stroke
  JOURNAL   Crit Rev Eukaryot Gene Expr 29 (4), 351-361 (2019)
   PUBMED   31679296
  REMARK    GeneRIF: Data show that common variants in A disintegrin and
            metalloproteinase with thrombospondin motifs 7 protein (ADAMTS7)
            and zinc finger, C3HC-type containing 1 protein (ZC3HC1) genes
            contribute to an increased risk for both coronary artery disease
            (CAD) and large artery ischemic stroke (LA atherosclerotic) IS.
REFERENCE   4  (residues 1 to 481)
  AUTHORS   Linseman T, Soubeyrand S, Martinuk A, Nikpay M, Lau P and McPherson
            R.
  TITLE     Functional Validation of a Common Nonsynonymous Coding Variant in
            ZC3HC1 Associated With Protection From Coronary Artery Disease
  JOURNAL   Circ Cardiovasc Genet 10 (1) (2017)
   PUBMED   28115489
  REMARK    GeneRIF: Common nonsynonymous coding variant in ZC3HC1 (rs11556924)
            is associated with protection from coronary artery disease.
REFERENCE   5  (residues 1 to 481)
  AUTHORS   Dichgans M, Malik R, Konig IR, Rosand J, Clarke R, Gretarsdottir S,
            Thorleifsson G, Mitchell BD, Assimes TL, Levi C, O'Donnell CJ,
            Fornage M, Thorsteinsdottir U, Psaty BM, Hengstenberg C, Seshadri
            S, Erdmann J, Bis JC, Peters A, Boncoraglio GB, Marz W, Meschia JF,
            Kathiresan S, Ikram MA, McPherson R, Stefansson K, Sudlow C, Reilly
            MP, Thompson JR, Sharma P, Hopewell JC, Chambers JC, Watkins H,
            Rothwell PM, Roberts R, Markus HS, Samani NJ, Farrall M and
            Schunkert H.
  CONSRTM   METASTROKE Consortium; CARDIoGRAM Consortium; C4D Consortium;
            International Stroke Genetics Consortium
  TITLE     Shared genetic susceptibility to ischemic stroke and coronary
            artery disease: a genome-wide analysis of common variants
  JOURNAL   Stroke 45 (1), 24-36 (2014)
   PUBMED   24262325
  REMARK    Review article
REFERENCE   6  (residues 1 to 481)
  AUTHORS   Lopez-Mejias,R., Genre,F., Garcia-Bermudez,M., Corrales,A.,
            Gonzalez-Juanatey,C., Llorca,J., Miranda-Filloy,J.A.,
            Rueda-Gotor,J., Blanco,R., Castaneda,S., Martin,J. and
            Gonzalez-Gay,M.A.
  TITLE     The ZC3HC1 rs11556924 polymorphism is associated with increased
            carotid intima-media thickness in patients with rheumatoid
            arthritis
  JOURNAL   Arthritis Res Ther 15 (5), R152 (2013)
   PUBMED   24286297
  REMARK    GeneRIF: Results indicate that ZC3HC1 rs11556924 polymorphism is
            associated with subclinical atherosclerosis in rheumatoid
            arthritis.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 481)
  AUTHORS   Illert AL, Zech M, Moll C, Albers C, Kreutmair S, Peschel C,
            Bassermann F and Duyster J.
  TITLE     Extracellular signal-regulated kinase 2 (ERK2) mediates
            phosphorylation and inactivation of nuclear interaction partner of
            anaplastic lymphoma kinase (NIPA) at G2/M
  JOURNAL   J Biol Chem 287 (45), 37997-38005 (2012)
   PUBMED   22955283
  REMARK    GeneRIF: Data show that cell cycle-dependent phosphorylation of
            nuclear interaction partner of anaplastic lymphoma kinase (NIPA)is
            mediated by extracellular signal-regulated kinase 2 (ERK2).
REFERENCE   8  (residues 1 to 481)
  AUTHORS   Klitzing Cv, Huss R, Illert AL, Froschl A, Wotzel S, Peschel C,
            Bassermann F and Duyster J.
  TITLE     APC/C(Cdh1)-mediated degradation of the F-box protein NIPA is
            regulated by its association with Skp1
  JOURNAL   PLoS One 6 (12), e28998 (2011)
   PUBMED   22205987
  REMARK    GeneRIF: phosphorylated NIPA is degraded in late mitosis in an
            APC/C(Cdh1)-dependent manner
REFERENCE   9  (residues 1 to 481)
  AUTHORS   Bassermann F, von Klitzing C, Munch S, Bai RY, Kawaguchi H, Morris
            SW, Peschel C and Duyster J.
  TITLE     NIPA defines an SCF-type mammalian E3 ligase that regulates mitotic
            entry
  JOURNAL   Cell 122 (1), 45-57 (2005)
   PUBMED   16009132
  REMARK    GeneRIF: The NIPA protein is a human F-box-containing protein that
            defines an SCF-type E3 ligase (SCF(NIPA)) controlling mitotic
            entry.
REFERENCE   10 (residues 1 to 481)
  AUTHORS   Ouyang T, Bai RY, Bassermann F, von Klitzing C, Klumpen S, Miething
            C, Morris SW, Peschel C and Duyster J.
  TITLE     Identification and characterization of a nuclear interacting
            partner of anaplastic lymphoma kinase (NIPA)
  JOURNAL   J Biol Chem 278 (32), 30028-30036 (2003)
   PUBMED   12748172
  REMARK    GeneRIF: NIPA has an antiapoptotic role in NPM-ALK-mediated
            signaling events
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK001317.1, AF151050.1,
            AC073320.8 and BC011551.1.
            On Aug 23, 2013 this sequence version replaced XP_005250459.1.
            
            Summary: This gene encodes an F-box-containing protein that is a
            component of an SCF-type E3 ubiquitin ligase complex that regulates
            the onset of cell division. The G2/M transition in the cell cycle
            requires the interaction of the proteins cyclin B1 and
            cyclin-dependent kinase 1. The activated ubiquitin ligase complex
            targets the protein cyclin B1 for degradation, preventing this
            transition to mitosis. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            contains an alternate exon in the 5' coding region, and initiates
            translation at an alternate start codon compared to variant 1. The
            encoded isoform (2) has a distinct N-terminus and is shorter than
            isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK001317.1, SRR18074969.2100423.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..481
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.2"
     Protein         1..481
                     /product="zinc finger C3HC-type protein 1 isoform 2"
                     /note="nuclear interacting partner of anaplastic lymphoma
                     kinase (ALK); nuclear-interacting partner of ALK;
                     hematopoietic stem/progenitor cell protein 216"
                     /calculated_mol_wt=53428
     Region          52..180
                     /region_name="zf-C3HC"
                     /note="C3HC zinc finger-like; pfam07967"
                     /db_xref="CDD:400358"
     Region          227..317
                     /region_name="Rsm1"
                     /note="Rsm1-like; pfam08600"
                     /db_xref="CDD:369989"
     Region          <398..445
                     /region_name="Rsm1"
                     /note="Rsm1-like; pfam08600"
                     /db_xref="CDD:369989"
     CDS             1..481
                     /gene="ZC3HC1"
                     /gene_synonym="HSPC216; NIPA"
                     /coded_by="NM_001282190.2:118..1563"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS64767.1"
                     /db_xref="GeneID:51530"
                     /db_xref="HGNC:HGNC:29913"
                     /db_xref="MIM:619746"
ORIGIN      
        1 mrglprkrea wtqphpleal yeslrvlekd tsatsqsvng spqaeqpsle stskeaffsr
       61 vetfsslkwa gkpfelsplv cakygwvtve cdmlkcsscq aflcaslqpa fdfdrykqrc
      121 aelkkalcta hekfcfwpds pspdrfgmlp ldepailvse fldrfqslch ldlqlpslrp
      181 edlktmclte dkislllhll edeldhrtde rkttiklgsd iqvhvtacil svcgwacsss
      241 lesmqlslit csqcmrkvgl wgfqqiessm tdldasfglt sspipglegr perlplvpes
      301 prrmmtrsqd atfspgseqa ekspgpivsr trswdssspv drpepeaasp ttrtrpvtrs
      361 mgtgdtpgle vpssplrkak rarlcsssss dtssrsffdp tsqhrdwcpw vnitlgkesr
      421 enggtepdas apaepgwkav ltillahkqs sqpaetdsms lseksrkvfr ifrqweslcs
      481 c
//
LOCUS       NP_001003942             163 aa            linear   PRI 31-DEC-2022
DEFINITION  bcl-2-modifying factor isoform bmf-2 [Homo sapiens].
ACCESSION   NP_001003942
VERSION     NP_001003942.1
DBSOURCE    REFSEQ: accession NM_001003942.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 163)
  AUTHORS   Fedele PL, Liao Y, Gong JN, Yao Y, van Delft MF, Low MSY, Tai L,
            Herold MJ, Jackson JT, Teh CE, Tan T, O'Reilly LA, Tellier J,
            Grigoriadis G, Huang DCS, Shi W, Nutt SL and Willis SN.
  TITLE     The transcription factor IRF4 represses proapoptotic BMF and BIM to
            licence multiple myeloma survival
  JOURNAL   Leukemia 35 (7), 2114-2118 (2021)
   PUBMED   33149265
  REMARK    GeneRIF: The transcription factor IRF4 represses proapoptotic BMF
            and BIM to licence multiple myeloma survival.
REFERENCE   2  (residues 1 to 163)
  AUTHORS   Xu F, Li J, Ni M, Cheng J, Zhao H, Wang S, Zhou X and Wu X.
  TITLE     FBW7 suppresses ovarian cancer development by targeting the
            N6-methyladenosine binding protein YTHDF2
  JOURNAL   Mol Cancer 20 (1), 45 (2021)
   PUBMED   33658012
  REMARK    GeneRIF: FBW7 suppresses ovarian cancer development by targeting
            the N(6)-methyladenosine binding protein YTHDF2.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 163)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 163)
  AUTHORS   Ye K, Meng WX, Sun H, Wu B, Chen M, Pang YP, Gao J, Wang H, Wang J,
            Kaufmann SH and Dai H.
  TITLE     Characterization of an alternative BAK-binding site for BH3
            peptides
  JOURNAL   Nat Commun 11 (1), 3301 (2020)
   PUBMED   32620849
  REMARK    GeneRIF: Characterization of an alternative BAK-binding site for
            BH3 peptides.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 163)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 163)
  AUTHORS   Day CL, Puthalakath H, Skea G, Strasser A, Barsukov I, Lian LY,
            Huang DC and Hinds MG.
  TITLE     Localization of dynein light chains 1 and 2 and their pro-apoptotic
            ligands
  JOURNAL   Biochem J 377 (Pt 3), 597-605 (2004)
   PUBMED   14561217
REFERENCE   7  (residues 1 to 163)
  AUTHORS   Morales AA, Olsson A, Celsing F, Osterborg A, Jondal M and Osorio
            LM.
  TITLE     Expression and transcriptional regulation of functionally distinct
            Bmf isoforms in B-chronic lymphocytic leukemia cells
  JOURNAL   Leukemia 18 (1), 41-47 (2004)
   PUBMED   14574334
  REMARK    GeneRIF: Up or downregulation of Bmf isoforms may have a role in
            regulating growth and survival in B cells and leukemic B-CLL cells
REFERENCE   8  (residues 1 to 163)
  AUTHORS   Lei K and Davis RJ.
  TITLE     JNK phosphorylation of Bim-related members of the Bcl2 family
            induces Bax-dependent apoptosis
  JOURNAL   Proc Natl Acad Sci U S A 100 (5), 2432-2437 (2003)
   PUBMED   12591950
REFERENCE   9  (residues 1 to 163)
  AUTHORS   Puthalakath H, Villunger A, O'Reilly LA, Beaumont JG, Coultas L,
            Cheney RE, Huang DC and Strasser A.
  TITLE     Bmf: a proapoptotic BH3-only protein regulated by interaction with
            the myosin V actin motor complex, activated by anoikis
  JOURNAL   Science 293 (5536), 1829-1832 (2001)
   PUBMED   11546872
  REMARK    Erratum:[Science 2002 Aug 16;297(5584):1122]
REFERENCE   10 (residues 1 to 163)
  AUTHORS   Hattori A, Okumura K, Nagase T, Kikuno R, Hirosawa M and Ohara O.
  TITLE     Characterization of long cDNA clones from human adult spleen
  JOURNAL   DNA Res 7 (6), 357-366 (2000)
   PUBMED   11214971
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021755.9.
            
            Summary: The protein encoded by this gene belongs to the BCL2
            protein family. BCL2 family members form hetero- or homodimers and
            act as anti- or pro-apoptotic regulators that are involved in a
            wide variety of cellular activities. This protein contains a single
            BCL2 homology domain 3 (BH3), and has been shown to bind BCL2
            proteins and function as an apoptotic activator. This protein is
            found to be sequestered to myosin V motors by its association with
            dynein light chain 2, which may be important for sensing
            intracellular damage and triggering apoptosis. Alternatively
            spliced transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.2257316.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144333, SAMEA2146236
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..163
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     Protein         1..163
                     /product="bcl-2-modifying factor isoform bmf-2"
                     /note="bcl-2-modifying factor"
                     /calculated_mol_wt=17863
     Region          2..163
                     /region_name="BMF"
                     /note="Bcl-2-modifying factor, apoptosis; pfam15185"
                     /db_xref="CDD:291841"
     CDS             1..163
                     /gene="BMF"
                     /coded_by="NM_001003942.2:241..732"
                     /note="isoform bmf-2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS45223.1"
                     /db_xref="GeneID:90427"
                     /db_xref="HGNC:HGNC:24132"
                     /db_xref="MIM:606266"
ORIGIN      
        1 mepsqcveel eddvfqpedg epvtqpgsll sadlfaqsll dcplsrlqlf plthccgpgl
       61 rptsqedkat qtlspaspsq gvmlpcgvte epqrlfygna gyrlplpasf pavlpigeqp
      121 pegqwqhqae hqqnqnrvww qillflhnla lngeenrnga gpr
//
LOCUS       NP_001397707             918 aa            linear   PRI 01-JAN-2023
DEFINITION  ephrin type-A receptor 3 isoform c precursor [Homo sapiens].
ACCESSION   NP_001397707 XP_005264773
VERSION     NP_001397707.1
DBSOURCE    REFSEQ: accession NM_001410778.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 918)
  AUTHORS   Salokas K, Liu X, Ohman T, Chowdhury I, Gawriyski L, Keskitalo S
            and Varjosalo M.
  TITLE     Physical and functional interactome atlas of human receptor
            tyrosine kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   2  (residues 1 to 918)
  AUTHORS   Kim SH, Kang BC, Seong D, Lee WH, An JH, Je HU, Cha HJ, Chang HW,
            Kim SY, Kim SW and Han MW.
  TITLE     EPHA3 Contributes to Epigenetic Suppression of PTEN in
            Radioresistant Head and Neck Cancer
  JOURNAL   Biomolecules 11 (4), 599 (2021)
   PUBMED   33919657
  REMARK    GeneRIF: EPHA3 Contributes to Epigenetic Suppression of PTEN in
            Radioresistant Head and Neck Cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 918)
  AUTHORS   Wang L, Tang S, Yu Y, Lv Y, Wang A, Yan X, Li N, Sha C, Sun K and
            Li Y.
  TITLE     Intranasal Delivery of Temozolomide-Conjugated Gold Nanoparticles
            Functionalized with Anti-EphA3 for Glioblastoma Targeting
  JOURNAL   Mol Pharm 18 (3), 915-927 (2021)
   PUBMED   33417456
  REMARK    GeneRIF: Intranasal Delivery of Temozolomide-Conjugated Gold
            Nanoparticles Functionalized with Anti-EphA3 for Glioblastoma
            Targeting.
REFERENCE   4  (residues 1 to 918)
  AUTHORS   London M and Gallo E.
  TITLE     Critical role of EphA3 in cancer and current state of EphA3 drug
            therapeutics
  JOURNAL   Mol Biol Rep 47 (7), 5523-5533 (2020)
   PUBMED   32621117
  REMARK    GeneRIF: Critical role of EphA3 in cancer and current state of
            EphA3 drug therapeutics.
            Review article
REFERENCE   5  (residues 1 to 918)
  AUTHORS   Song Z, Gao S, Liu YM, Wang Y, Sun ZX, Bao D and Liu C.
  TITLE     EphA3 promotes the proliferation of NPC cells through negatively
            regulating the ability of FOG2
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (12), 6735-6743 (2020)
   PUBMED   32633364
  REMARK    GeneRIF: EphA3 promotes the proliferation of NPC cells through
            negatively regulating the ability of FOG2.
REFERENCE   6  (residues 1 to 918)
  AUTHORS   Cerretti DP, Vanden Bos T, Nelson N, Kozlosky CJ, Reddy P,
            Maraskovsky E, Park LS, Lyman SD, Copeland NG, Gilbert DJ et al.
  TITLE     Isolation of LERK-5: a ligand of the eph-related receptor tyrosine
            kinases
  JOURNAL   Mol Immunol 32 (16), 1197-1205 (1995)
   PUBMED   8559144
REFERENCE   7  (residues 1 to 918)
  AUTHORS   Beckmann MP, Cerretti DP, Baum P, Vanden Bos T, James L, Farrah T,
            Kozlosky C, Hollingsworth T, Shilling H, Maraskovsky E et al.
  TITLE     Molecular characterization of a family of ligands for eph-related
            tyrosine kinase receptors
  JOURNAL   EMBO J 13 (16), 3757-3762 (1994)
   PUBMED   8070404
REFERENCE   8  (residues 1 to 918)
  AUTHORS   Wicks IP, Lapsys NM, Baker E, Campbell LJ, Boyd AW and Sutherland
            GR.
  TITLE     Localization of a human receptor tyrosine kinase (ETK1) to
            chromosome region 3p11.2
  JOURNAL   Genomics 19 (1), 38-41 (1994)
   PUBMED   8188238
REFERENCE   9  (residues 1 to 918)
  AUTHORS   Wicks IP, Wilkinson D, Salvaris E and Boyd AW.
  TITLE     Molecular cloning of HEK, the gene encoding a receptor tyrosine
            kinase expressed by human lymphoid tumor cell lines
  JOURNAL   Proc Natl Acad Sci U S A 89 (5), 1611-1615 (1992)
   PUBMED   1311845
REFERENCE   10 (residues 1 to 918)
  AUTHORS   Boyd AW, Ward LD, Wicks IP, Simpson RJ, Salvaris E, Wilks A, Welch
            K, Loudovaris M, Rockman S and Busmanis I.
  TITLE     Isolation and characterization of a novel receptor-type protein
            tyrosine kinase (hek) from a human pre-B cell line
  JOURNAL   J Biol Chem 267 (5), 3262-3267 (1992)
   PUBMED   1737782
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC138973.2, AC109129.3 and
            AC107028.5.
            On Aug 15, 2022 this sequence version replaced XP_005264773.1.
            
            Summary: This gene belongs to the ephrin receptor subfamily of the
            protein-tyrosine kinase family. EPH and EPH-related receptors have
            been implicated in mediating developmental events, particularly in
            the nervous system. Receptors in the EPH subfamily typically have a
            single kinase domain and an extracellular region containing a
            Cys-rich domain and 2 fibronectin type III repeats. The ephrin
            receptors are divided into 2 groups based on the similarity of
            their extracellular domain sequences and their affinities for
            binding ephrin-A and ephrin-B ligands. This gene encodes a protein
            that binds ephrin-A ligands. Two alternatively spliced transcript
            variants have been described for this gene. [provided by RefSeq,
            Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.1310526.1,
                                           SRR14038197.542515.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..918
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p11.1"
     Protein         1..918
                     /product="ephrin type-A receptor 3 isoform c precursor"
                     /EC_number="2.7.10.1"
                     /note="TYRO4 protein tyrosine kinase; eph-like tyrosine
                     kinase 1; testicular tissue protein Li 64; human embryo
                     kinase 1; ephrin type-A receptor 3; EPH-like kinase 4;
                     tyrosine-protein kinase receptor ETK1"
                     /calculated_mol_wt=101003
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2158
     Region          29..201
                     /region_name="EphR_LBD_A3"
                     /note="Ligand Binding Domain of Ephrin type-A Receptor 3;
                     cd10481"
                     /db_xref="CDD:198449"
     Site            order(53,55..59,66..67,69,71,102,104,109..110,152,
                     156..157,160..162,189..191,193)
                     /site_type="other"
                     /note="ephrin binding site [polypeptide binding]"
                     /db_xref="CDD:198449"
     Site            232
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P29320.2)"
     Site            order(326,401,414)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          327..417
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            337
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P29320.2)"
     Site            391
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P29320.2)"
     Site            404
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P29320.2)"
     Site            order(415..416,418..419)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          437..528
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(437,501,516)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            493
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P29320.2)"
     Site            order(517..518,520..521)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            542..565
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P29320.2)"
     Region          555..618
                     /region_name="EphA2_TM"
                     /note="Ephrin type-A receptor 2 transmembrane domain;
                     pfam14575"
                     /db_xref="CDD:434048"
     Site            596
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:11870224,
                     ECO:0000269|PubMed:18547520; propagated from
                     UniProtKB/Swiss-Prot (P29320.2)"
     Site            602
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:11870224,
                     ECO:0000269|PubMed:18547520; propagated from
                     UniProtKB/Swiss-Prot (P29320.2)"
     Region          616..882
                     /region_name="PTKc_EphR_A"
                     /note="Catalytic domain of the Protein Tyrosine Kinases,
                     Class EphA Ephrin Receptors; cd05066"
                     /db_xref="CDD:270651"
     Site            order(627,629..631,635,651,653,699..700,702,746,750..751,
                     753,764,783..787,796,830)
                     /site_type="active"
                     /db_xref="CDD:270651"
     Site            order(627..631,635,651,653,699..702,705..706,750..751,753,
                     764)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270651"
     Site            701
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:18547520; propagated from
                     UniProtKB/Swiss-Prot (P29320.2)"
     Site            order(746,750,783..787,796,830)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270651"
     Site            763..789
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270651"
     Site            779
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:11870224; propagated from
                     UniProtKB/Swiss-Prot (P29320.2)"
     CDS             1..918
                     /gene="EPHA3"
                     /gene_synonym="EK4; ETK; ETK1; HEK; HEK4; TYRO4"
                     /coded_by="NM_001410778.1:129..2885"
                     /note="isoform c precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS93324.1"
                     /db_xref="GeneID:2042"
                     /db_xref="HGNC:HGNC:3387"
                     /db_xref="MIM:179611"
ORIGIN      
        1 mdcqlsilll lscsvldsfg elipqpsnev nlldsktiqg elgwisypsh gweeisgvde
       61 hytpirtyqv cnvmdhsqnn wlrtnwvprn saqkiyvelk ftlrdcnsip lvlgtcketf
      121 nlyymesddd hgvkfrehqf tkidtiaade sftqmdlgdr ilklnteire vgpvnkkgfy
      181 lafqdvgacv alvsvrvyfk kcpftvknla mfpdtvpmds qslvevrgsc vnnskeedpp
      241 rmycstegew lvpigkcscn agyeergfmc qacrpgfyka ldgnmkcakc pphsstqedg
      301 smncrcenny fradkdppsm actrppsspr nvisninets vildwswpld tggrkdvtfn
      361 iickkcgwni kqcepcspnv rflprqfglt nttvtvtdll ahtnytfeid avngvselss
      421 pprqfaavsi ttnqaapspv ltikkdrtsr nsislswqep ehpngiildy evkyyekqeq
      481 etsytilrar gtnvtisslk pdtiyvfqir artaagygtn srkfefetsp dsfsisgess
      541 qvvmiaisaa vaiilltvvi yvligrfcgy kskhgadekr lhfgnghlkl pglrtyvdph
      601 tyedptqavh efakeldatn isidkvvgag efgevcsgrl klpskkeisv aiktlkvgyt
      661 ekqrrdflge asimgqfdhp niirlegvvt kskpvmivte ymengsldsf lrkhdaqftv
      721 iqlvgmlrgi asgmkylsdm gyvhrdlaar nilinsnlvc kvsdfglsrv leddpeaayt
      781 trggkipirw tspeaiayrk ftsasdvwsy givlwevmsy gerpywemsn qdvikavdeg
      841 yrlpppmdcp aalyqlmldc wqkdrnnrpk feqivsildk lirnpgslki itsaaarpsn
      901 llldqsnvdi ttfrttvt
//
LOCUS       NP_001399062            2426 aa            linear   PRI 01-JAN-2023
DEFINITION  protein SON isoform J [Homo sapiens].
ACCESSION   NP_001399062
VERSION     NP_001399062.1
DBSOURCE    REFSEQ: accession NM_001412133.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2426)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (residues 1 to 2426)
  AUTHORS   Kim JH, Jeong K, Li J, Murphy JM, Vukadin L, Stone JK, Richard A,
            Tran J, Gillespie GY, Flemington EK, Sobol RW, Lim SS and Ahn EE.
  TITLE     SON drives oncogenic RNA splicing in glioblastoma by regulating
            PTBP1/PTBP2 switching and RBFOX2 activity
  JOURNAL   Nat Commun 12 (1), 5551 (2021)
   PUBMED   34548489
  REMARK    GeneRIF: SON drives oncogenic RNA splicing in glioblastoma by
            regulating PTBP1/PTBP2 switching and RBFOX2 activity.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 2426)
  AUTHORS   Ohler U, Shomron N and Burge CB.
  TITLE     Recognition of unknown conserved alternatively spliced exons
  JOURNAL   PLoS Comput Biol 1 (2), 113-122 (2005)
   PUBMED   16110330
REFERENCE   4  (residues 1 to 2426)
  AUTHORS   Casadei R, Strippoli P, D'Addabbo P, Canaider S, Lenzi L, Vitale L,
            Giannone S, Frabetti F, Facchin F, Carinci P and Zannotti M.
  TITLE     mRNA 5' region sequence incompleteness: a potential source of
            systematic errors in translation initiation codon assignment in
            human mRNAs
  JOURNAL   Gene 321, 185-193 (2003)
   PUBMED   14637006
REFERENCE   5  (residues 1 to 2426)
  AUTHORS   Reymond A, Friedli M, Henrichsen CN, Chapot F, Deutsch S, Ucla C,
            Rossier C, Lyle R, Guipponi M and Antonarakis SE.
  TITLE     From PREDs and open reading frames to cDNA isolation: revisiting
            the human chromosome 21 transcription map
  JOURNAL   Genomics 78 (1-2), 46-54 (2001)
   PUBMED   11707072
REFERENCE   6  (residues 1 to 2426)
  AUTHORS   Sun CT, Lo WY, Wang IH, Lo YH, Shiou SR, Lai CK and Ting LP.
  TITLE     Transcription repression of human hepatitis B virus genes by
            negative regulatory element-binding protein/SON
  JOURNAL   J Biol Chem 276 (26), 24059-24067 (2001)
   PUBMED   11306577
REFERENCE   7  (residues 1 to 2426)
  AUTHORS   Wynn SL, Fisher RA, Pagel C, Price M, Liu QY, Khan IM, Zammit P,
            Dadrah K, Mazrani W, Kessling A, Lee JS and Buluwela L.
  TITLE     Organization and conservation of the GART/SON/DONSON locus in mouse
            and human genomes
  JOURNAL   Genomics 68 (1), 57-62 (2000)
   PUBMED   10950926
REFERENCE   8  (residues 1 to 2426)
  AUTHORS   Greenhalf W, Lee J and Chaudhuri B.
  TITLE     A selection system for human apoptosis inhibitors using yeast
  JOURNAL   Yeast 15 (13), 1307-1321 (1999)
   PUBMED   10509013
REFERENCE   9  (residues 1 to 2426)
  AUTHORS   Khan IM, Fisher RA, Johnson KJ, Bailey ME, Siciliano MJ, Kessling
            AM, Farrer M, Carritt B, Kamalati T and Buluwela L.
  TITLE     The SON gene encodes a conserved DNA binding protein mapping to
            human chromosome 21
  JOURNAL   Ann Hum Genet 58 (1), 25-34 (1994)
   PUBMED   8031013
REFERENCE   10 (residues 1 to 2426)
  AUTHORS   Mattioni T, Hume CR, Konigorski S, Hayes P, Osterweil Z and Lee JS.
  TITLE     A cDNA clone for a novel nuclear protein with DNA binding activity
  JOURNAL   Chromosoma 101 (10), 618-624 (1992)
   PUBMED   1424986
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CP068257.2.
            
            Summary: This gene encodes a protein that contains multiple simple
            repeats. The encoded protein binds RNA and promotes pre-mRNA
            splicing, particularly of transcripts with poor splice sites. The
            protein also recognizes a specific DNA sequence found in the human
            hepatitis B virus (HBV) and represses HBV core promoter activity.
            There is a pseudogene for this gene on chromosome 1. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jul 2013].
            
            Transcript Variant: This variant (j) uses the same exon combination
            as variant f but represents the allele encoded by the T2T genome
            assembly. The encoded isoform (J) has a slightly different sequence
            in the C-terminal region compared to isoform F.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF380184.1, SRR18074967.1366385.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2426
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     Protein         1..2426
                     /product="protein SON isoform J"
                     /note="NRE-binding protein; negative regulatory
                     element-binding protein; Bax antagonist selected in
                     Saccharomyces 1; SON DNA binding protein"
                     /calculated_mol_wt=263760
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            16
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          24..56
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          77..155
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            94
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            142
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            152
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            154
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            160
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          <170..460
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            283
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            288
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          305..328
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          <340..673
                     /region_name="PHA03379"
                     /note="EBNA-3A; Provisional"
                     /db_xref="CDD:223066"
     Site            400
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          406..442
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          726..895
                     /region_name="17 X 10 AA tandem repeats of
                     L-A-[ST]-[NSG]-[TS]-MDSQM"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          912..988
                     /region_name="11 X 7 AA tandem repeats of
                     [DR]-P-Y-R-[LI][AG][QHP]"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            950
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            959
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            998
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          1006..1126
                     /region_name="14 X 6 AA repeats of [ED]-R-S-M-M-S"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            1007
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9QX47; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1022
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9QX47; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1035
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1043
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1060
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1068
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1082
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          1144..1236
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          1147..1179
                     /region_name="3 X 11 AA tandem repats of
                     P-P-L-P-P-E-E-P-P-[TME]-[MTG]"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          <1195..1381
                     /region_name="rne"
                     /note="ribonuclease E; Reviewed; PRK10811"
                     /db_xref="CDD:236766"
     Region          <1289..1481
                     /region_name="rne"
                     /note="ribonuclease E; Reviewed; PRK10811"
                     /db_xref="CDD:236766"
     Region          1359..1390
                     /region_name="4 X 8 AA tandem repeats of
                     V-L-E-SS-[AVT]-VT"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            1556
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          1645..1722
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            1651
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1697
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1701
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1747
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          1754..2054
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            1759
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1766
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1769
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1782
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1783
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          1925..1994
                     /region_name="7 X 7 AA repeats of P-S-R-R-S-R-[TS]"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          1934..2013
                     /region_name="2 X 19 AA repeats of
                     P-S-R-R-R-R-S-R-S-V-V-R-R-R-S-F-S-I-S"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            1948
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1950
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            1952
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            2009
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            2011
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Region          2013..2039
                     /region_name="3 X tandem repeats of
                     [ST]-P-[VLI]-R-[RL]-[RK]-[RF]-S-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            2013
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            2029
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            2031
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            2055
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            2129
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Site            2163
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          2200..2220
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18583.4)"
     Site            2238
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P18583.4)"
     Region          2305..2349
                     /region_name="G-patch"
                     /note="G-patch domain; pfam01585"
                     /db_xref="CDD:396249"
     Region          2369..>2419
                     /region_name="DSRM_SON-like"
                     /note="double-stranded RNA binding motif of protein SON
                     and similar proteins; cd19870"
                     /db_xref="CDD:380699"
     CDS             1..2426
                     /gene="SON"
                     /gene_synonym="BASS1; C21orf50; DBP-5; NREBP; SON3;
                     TOKIMS"
                     /coded_by="NM_001412133.1:56..7336"
                     /note="isoform J is encoded by transcript variant j"
                     /db_xref="GeneID:6651"
                     /db_xref="HGNC:HGNC:11183"
                     /db_xref="MIM:182465"
ORIGIN      
        1 matnieqifr sfvvskfrei qqelssgrne gqlngetntp iegnqagdaa asarslpnee
       61 ivqkieevls gvldtelryk pdlkegsrks rcvsvqtdpt deiptkkskk hkkhknkkkk
      121 kkkekekkyk rqpeeseskt kshddgnidl esdsflkfds epsavalelp trafgpsetn
      181 espavvlepp vvsmevseph iletlkpatk taelsvvsts viseqseqsv avmpepsmtk
      241 ildsfaaapv ptttlvlkss epvvtmsvey qmksvlksve stspepskim lveppvakvl
      301 epsetlvvss etptevypep ststtmdfpe ssaiealrlp eqpvdvpsei adssmtrpqe
      361 lpelpkttal elqessvasa melpgppats mpelqgppvt pvlelpgpsa tpvpelpgpl
      421 stpvpelpgp patavpelpg psvtpvpqls qelpglpaps mgleppqevp eppvmaqelp
      481 glplvtaave lpeqpavtva melteqpvtt teleqpvgmt tvehpghpev ttatgllgqp
      541 eatmvlelpg qpvattalel pgqpsvtgvp elpglpsatr alelsgqpva tgalelpgpl
      601 maagalefsg qsgaagalel lgqplatgvl elpgqpgape lpgqpvatva leisvqsvvt
      661 tselstmtvs qslevpstta lesyntvaqe lpttlvgets vtvgvdplma peshilasnt
      721 methilasnt mdsqmlasnt mdsqmlasnt mdsqmlasst mdsqmlatss mdsqmlatss
      781 mdsqmlatst mdsqmlatss mdsqmlatss mdsqmlatss mdsqmlatss mdsqmlatst
      841 mdsqmlatst mdsqmlatss mdsqmlasgt mdsqmlasgt mdaqmlasgt mdaqmlasst
      901 qdsamlgsks pdpyrlaqdp yrlaqdpyrl ghdpyrlghd ayrlgqdpyr lghdpyrltp
      961 dpyrmsprpy riaprsyria prpyrlaprp lmlasrrsmm msyaaersmm ssyersmmsy
     1021 ersmmspmae rsmmsayers mmsayersmm spmaersmms ayersmmsay ersmmspmad
     1081 rsmmsmgadr smmssysaad rsmmssysaa drsmmssyta drsmmsmaad sytdsytdty
     1141 teaymvpplp peepptmppl ppeeppmtpp lppeeppegp alpteqsalt aentwptevp
     1201 slpseesvsq peppvsqsei sepsavptdy svsasdpsvl vseaavtvpe pppepessit
     1261 ltpvesavva eehevvperp vtcmvsetpa msaeptvlas eppvmsetae tfdsmrasgh
     1321 vasevstsll vpavttpvla esileppama apessamavl essavtvles stvtvlesst
     1381 vtvlepsvvt vpeppvvaep dyvtipvpvv salepsvpvl epavsvlqps mivsepsvsv
     1441 qestvtvsep avtvseqtqv iptevaiest pmilessims shvmkginls sgdqnlapei
     1501 gmqeialhsg eephaeehlk gdfyesehgi nidlninnhl iakemehntv caagtspvge
     1561 igeekilpts etkqrtvldt ypgvseadag etlsstgpfa lepdatgtsk giefttastl
     1621 slvnkydvdl slttqdtehd mvistspsgg seadiegplp akdihldlps nnnlvskdte
     1681 eplpvkesdq tlaallspke ssggekevpp ppketlpdsg fsaniedine adlvrpllpk
     1741 dmerltslra giegpllasd vgrdrsaasp vvssmperas essseekddy eifvkvkdth
     1801 ekskknknrd kgekekkrds slrsrskrsk ssehksrkrt sesrsrarkr sskskshrsq
     1861 trsrsrsrrr rrssrsrsks rgrrsvskek rkrspkhrsk srerkrkrss srdnrktvra
     1921 rsrtpsrrsr shtpsrrrrs rsvgrrrsfs ispsrrsrtp srrsrtpsrr srtpsrrsrt
     1981 psrrsrtpsr rsrtpsrrrr srsvvrrrsf sispvrlrrs rtplrrrfsr spirrkrsrs
     2041 sergrspkrl tdldkaqlle iakanaaamc akagvplppn lkpappptie ekvakksgga
     2101 tieeltekck qiaqskeddd vivnkphvsd eeeeeppfyh hpfklsepkp iffnlniaaa
     2161 kptppksqvt ltkefpvssg sqhrkkeads vygewvpvek ngeenkdddn vfssnlpsep
     2221 vdistamser alaqkrlsen afdleamsml nraqeridaw aqlnsipgqf tgstgvqvlt
     2281 qeqlantgaq awikkdqflr aapvtggmga vlmrkmgwre geglgknkeg nkepilvdfk
     2341 tdrkglvavg eraqkrsgnf saamkdlsgk hpvsalmeic nkrrwqppef llvhdsgpdh
     2401 rkhflfrvlr ngspyqpncm fflnry
//
LOCUS       NP_001371559             843 aa            linear   PRI 22-JAN-2023
DEFINITION  dipeptidyl peptidase 9 isoform 9 [Homo sapiens].
ACCESSION   NP_001371559
VERSION     NP_001371559.1
DBSOURCE    REFSEQ: accession NM_001384630.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 843)
  AUTHORS   Moecking J, Laohamonthonkul P, Mese K, Hagelueken G, Steiner A,
            Harapas CR, Sandow JJ, Graves JD, Masters SL and Geyer M.
  TITLE     Inflammasome sensor NLRP1 disease variant M1184V promotes
            autoproteolysis and DPP9 complex formation by stabilizing the FIIND
            domain
  JOURNAL   J Biol Chem 298 (12), 102645 (2022)
   PUBMED   36309085
  REMARK    GeneRIF: Inflammasome sensor NLRP1 disease variant M1184V promotes
            autoproteolysis and DPP9 complex formation by stabilizing the FIIND
            domain.
REFERENCE   2  (residues 1 to 843)
  AUTHORS   Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA,
            Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X,
            Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang
            B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P,
            Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe
            F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch
            C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras
            A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M,
            Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers
            C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM,
            Elliott P, Walsh T, Tenesa A, Fawkes A, Murphy L, Rowan K, Ponting
            CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry
            SC, Moutsianas L, Law A, Caulfield MJ and Baillie JK.
  CONSRTM   GenOMICC investigators; 23andMe investigators; COVID-19 Human
            Genetics Initiative
  TITLE     Whole-genome sequencing reveals host factors underlying critical
            COVID-19
  JOURNAL   Nature 607 (7917), 97-103 (2022)
   PUBMED   35255492
REFERENCE   3  (residues 1 to 843)
  AUTHORS   Sharif-Zak M, Abbasi-Jorjandi M, Asadikaram G, Ghoreshi ZA,
            Rezazadeh-Jabalbarzi M, Afsharipur A, Rashidinejad H, Khajepour F,
            Jafarzadeh A, Arefinia N, Kheyrkhah A and Abolhassani M.
  TITLE     CCR2 and DPP9 expression in the peripheral blood of COVID-19
            patients: Influences of the disease severity and gender
  JOURNAL   Immunobiology 227 (2), 152184 (2022)
   PUBMED   35131543
  REMARK    GeneRIF: CCR2 and DPP9 expression in the peripheral blood of
            COVID-19 patients: Influences of the disease severity and gender.
REFERENCE   4  (residues 1 to 843)
  AUTHORS   Sharif H, Hollingsworth LR, Griswold AR, Hsiao JC, Wang Q,
            Bachovchin DA and Wu H.
  TITLE     Dipeptidyl peptidase 9 sets a threshold for CARD8 inflammasome
            formation by sequestering its active C-terminal fragment
  JOURNAL   Immunity 54 (7), 1392-1404 (2021)
   PUBMED   34019797
  REMARK    GeneRIF: Dipeptidyl peptidase 9 sets a threshold for CARD8
            inflammasome formation by sequestering its active C-terminal
            fragment.
REFERENCE   5  (residues 1 to 843)
  AUTHORS   Zhang Y, Li K, Li Y, Zhao W, Wang L, Chen Z, Ma X, Yao T, Wang J,
            Dong W, Li X, Tian X and Fu R.
  TITLE     Profibrotic mechanisms of DPP8 and DPP9 highly expressed in the
            proximal renal tubule epithelial cells
  JOURNAL   Pharmacol Res 169, 105630 (2021)
   PUBMED   33932609
  REMARK    GeneRIF: Profibrotic mechanisms of DPP8 and DPP9 highly expressed
            in the proximal renal tubule epithelial cells.
REFERENCE   6  (residues 1 to 843)
  AUTHORS   Ogasawara W, Tanaka C, Suzuki M, Kobayashi G, Ogawa Y, Okada H and
            Morikawa Y.
  TITLE     Isoforms of dipeptidyl aminopeptidase IV from Pseudomonas sp. WO24:
            role of the signal sequence and overexpression in Escherichia coli
  JOURNAL   Protein Expr Purif 41 (2), 241-251 (2005)
   PUBMED   15866709
REFERENCE   7  (residues 1 to 843)
  AUTHORS   Ajami K, Abbott CA, McCaughan GW and Gorrell MD.
  TITLE     Dipeptidyl peptidase 9 has two forms, a broad tissue distribution,
            cytoplasmic localization and DPIV-like peptidase activity
  JOURNAL   Biochim Biophys Acta 1679 (1), 18-28 (2004)
   PUBMED   15245913
  REMARK    GeneRIF: identification of two forms, their tissue distribution,
            cytoplasmic localization
REFERENCE   8  (residues 1 to 843)
  AUTHORS   Qi SY, Riviere PJ, Trojnar J, Junien JL and Akinsanya KO.
  TITLE     Cloning and characterization of dipeptidyl peptidase 10, a new
            member of an emerging subgroup of serine proteases
  JOURNAL   Biochem J 373 (Pt 1), 179-189 (2003)
   PUBMED   12662155
REFERENCE   9  (residues 1 to 843)
  AUTHORS   Ajami K, Abbott CA, Obradovic M, Gysbers V, Kahne T, McCaughan GW
            and Gorrell MD.
  TITLE     Structural requirements for catalysis, expression, and dimerization
            in the CD26/DPIV gene family
  JOURNAL   Biochemistry 42 (3), 694-701 (2003)
   PUBMED   12534281
REFERENCE   10 (residues 1 to 843)
  AUTHORS   Olsen C and Wagtmann N.
  TITLE     Identification and characterization of human DPP9, a novel
            homologue of dipeptidyl peptidase IV
  JOURNAL   Gene 299 (1-2), 185-193 (2002)
   PUBMED   12459266
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005783.1 and AC005594.1.
            
            Summary: This gene encodes a protein that is a member of the S9B
            family in clan SC of the serine proteases. The protein has been
            shown to have post-proline dipeptidyl aminopeptidase activity,
            cleaving Xaa-Pro dipeptides from the N-termini of proteins.
            Although the activity of this protein is similar to that of
            dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane
            bound. In general, dipeptidyl peptidases appear to be involved in
            the regulation of the activity of their substrates and have been
            linked to a variety of diseases including type 2 diabetes, obesity
            and cancer. Several transcript variants of this gene have been
            described but not fully characterized. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1968189, SAMEA2142348
                              [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
                                   variant(s)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..843
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..843
                     /product="dipeptidyl peptidase 9 isoform 9"
                     /EC_number="3.4.14.5"
                     /note="dipeptidyl peptidase IV-related protein-2;
                     dipeptidyl peptidase IX; dipeptidyl peptidase-like protein
                     9"
                     /calculated_mol_wt=96157
     Region          <53..164
                     /region_name="Dpp_8_9_N"
                     /note="Dipeptidyl peptidase 8 and 9 N-terminal; pfam19520"
                     /db_xref="CDD:437352"
     Region          175..599
                     /region_name="DPPIV_N"
                     /note="Dipeptidyl peptidase IV (DPP IV) N-terminal region;
                     pfam00930"
                     /db_xref="CDD:395744"
     Region          678..843
                     /region_name="Peptidase_S9"
                     /note="Prolyl oligopeptidase family; pfam00326"
                     /db_xref="CDD:425609"
     CDS             1..843
                     /gene="DPP9"
                     /gene_synonym="DP9; DPLP9; DPP IX; DPRP-2; DPRP2"
                     /coded_by="NM_001384630.1:258..2789"
                     /note="isoform 9 is encoded by transcript variant 23"
                     /db_xref="GeneID:91039"
                     /db_xref="HGNC:HGNC:18648"
                     /db_xref="MIM:608258"
ORIGIN      
        1 mrkvkklrld kentgswrsf slnsegaerm attgtptadr gdaaatddpa arfqvqkhsw
       61 dglrsiihgs rkysglivnk aphdfqfvqk tdesgphshr lyylgmpygs rensllysei
      121 pkkvrkeall llswkqmldh fqatphhgvy sreeellrer krlgvfgits ydfhsesglf
      181 lfqasnslfh crdggkngfm vspmkpleik tqcsgprmdp kicpadpaff sfinnsdlwv
      241 anietgeerr ltfchqglsn vlddpksagv atfviqeefd rftgywwcpt aswegseglk
      301 tlrilyeevd esevevihvp spaleerktd syryprtgsk npkialklae fqtdsqgkiv
      361 stqekelvqp fsslfpkvey iaragwtrdg kyawamfldr pqqwlqlvll ppalfipste
      421 neeqrlasar avprnvqpyv vyeevtnvwi nvhdifypfp qsegedelcf lranecktgf
      481 chlykvtavl ksqgydwsep fspgedefkc pikeeialts gewevlarhg skiwvneetk
      541 lvyfqgtkdt plehhlyvvs yeaageivrl ttpgfshscs msqnfdmfvs hyssvstppc
      601 vhvyklsgpd ddplhkqprf wasmmeaasc ppdyvppeif hfhtrsdvrl ygmiykphal
      661 qpgkkhptvl fvyggpqgqv eiedqveglq fvaekygfid lsrvaihgws yggflslmgl
      721 ihkpqvfkva iagapvtvwm aydtgytery mdvpennqhg yeagsvalhv eklpnepnrl
      781 lilhgflden vhffhtnflv sqliragkpy qlqiypnerh sircpesgeh yevtllhflq
      841 eyl
//
LOCUS       NP_001307982             158 aa            linear   PRI 19-FEB-2023
DEFINITION  serglycin isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001307982
VERSION     NP_001307982.1
DBSOURCE    REFSEQ: accession NM_001321053.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 158)
  AUTHORS   Wang YL, Ren D, Lu JL, Jiang H, Wei JZ, Lan J, Liu F and Qu SH.
  TITLE     STAT3 regulates SRGN and promotes metastasis of nasopharyngeal
            carcinoma through the FoxO1-miR-148a-5p-CREB1 axis
  JOURNAL   Lab Invest 102 (9), 919-934 (2022)
   PUBMED   36775421
  REMARK    GeneRIF: STAT3 regulates SRGN and promotes metastasis of
            nasopharyngeal carcinoma through the FoxO1-miR-148a-5p-CREB1 axis.
REFERENCE   2  (residues 1 to 158)
  AUTHORS   Tanaka I, Dayde D, Tai MC, Mori H, Solis LM, Tripathi SC, Fahrmann
            JF, Unver N, Parhy G, Jain R, Parra ER, Murakami Y,
            Aguilar-Bonavides C, Mino B, Celiktas M, Dhillon D, Casabar JP,
            Nakatochi M, Stingo F, Baladandayuthapani V, Wang H, Katayama H,
            Dennison JB, Lorenzi PL, Do KA, Fujimoto J, Behrens C, Ostrin EJ,
            Rodriguez-Canales J, Hase T, Fukui T, Kajino T, Kato S, Yatabe Y,
            Hosoda W, Kawaguchi K, Yokoi K, Chen-Yoshikawa TF, Hasegawa Y,
            Gazdar AF, Wistuba II, Hanash S and Taguchi A.
  TITLE     SRGN-Triggered Aggressive and Immunosuppressive Phenotype in a
            Subset of TTF-1-Negative Lung Adenocarcinomas
  JOURNAL   J Natl Cancer Inst 114 (2), 290-301 (2022)
   PUBMED   34524427
  REMARK    GeneRIF: SRGN-Triggered Aggressive and Immunosuppressive Phenotype
            in a Subset of TTF-1-Negative Lung Adenocarcinomas.
REFERENCE   3  (residues 1 to 158)
  AUTHORS   Hosoya K, Nosaka K, Sakabe T, Wakahara M, Oshima Y, Suzuki Y,
            Nakamura H and Umekita Y.
  TITLE     Clinical Significance of Serglycin Expression in Human Breast
            Cancer Patients
  JOURNAL   Anticancer Res 42 (1), 279-285 (2022)
   PUBMED   34969735
  REMARK    GeneRIF: Clinical Significance of Serglycin Expression in Human
            Breast Cancer Patients.
REFERENCE   4  (residues 1 to 158)
  AUTHORS   He Y, Cheng D, Lian C, Liu Y, Luo W, Wang Y, Ma C, Wu Q, Tian P, He
            D, Jia Z, Lv X, Zhang X, Pan Z, Lu J, Xiao Y, Zhang P, Liang Y,
            Yang Q and Hu G.
  TITLE     Serglycin induces osteoclastogenesis and promotes tumor growth in
            giant cell tumor of bone
  JOURNAL   Cell Death Dis 12 (10), 868 (2021)
   PUBMED   34556636
  REMARK    GeneRIF: Serglycin induces osteoclastogenesis and promotes tumor
            growth in giant cell tumor of bone.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 158)
  AUTHORS   Cao L, Luo FF, Huang HB, Huang TJ, Hu H, Zheng LS, Wang J, Peng LX,
            Qian CN and Huang BJ.
  TITLE     The autoregulatory serglycin/CD44 axis drives stemness-like
            phenotypes in TNBC in a beta-catenin-dependent manner
  JOURNAL   Clin Transl Med 11 (2), e311 (2021)
   PUBMED   33634997
  REMARK    GeneRIF: The autoregulatory serglycin/CD44 axis drives
            stemness-like phenotypes in TNBC in a beta-catenin-dependent
            manner.
REFERENCE   6  (residues 1 to 158)
  AUTHORS   Humphries DE, Nicodemus CF, Schiller V and Stevens RL.
  TITLE     The human serglycin gene. Nucleotide sequence and methylation
            pattern in human promyelocytic leukemia HL-60 cells and
            T-lymphoblast Molt-4 cells
  JOURNAL   J Biol Chem 267 (19), 13558-13563 (1992)
   PUBMED   1377686
REFERENCE   7  (residues 1 to 158)
  AUTHORS   Nicodemus CF, Avraham S, Austen KF, Purdy S, Jablonski J and
            Stevens RL.
  TITLE     Characterization of the human gene that encodes the peptide core of
            secretory granule proteoglycans in promyelocytic leukemia HL-60
            cells and analysis of the translated product
  JOURNAL   J Biol Chem 265 (10), 5889-5896 (1990)
   PUBMED   2180935
REFERENCE   8  (residues 1 to 158)
  AUTHORS   Stellrecht CM and Saunders GF.
  TITLE     Nucleotide sequence of a cDNA encoding a hemopoietic proteoglycan
            core protein
  JOURNAL   Nucleic Acids Res 17 (18), 7523 (1989)
   PUBMED   2798108
REFERENCE   9  (residues 1 to 158)
  AUTHORS   Avraham S, Stevens RL, Nicodemus CF, Gartner MC, Austen KF and Weis
            JH.
  TITLE     Molecular cloning of a cDNA that encodes the peptide core of a
            mouse mast cell secretory granule proteoglycan and comparison with
            the analogous rat and human cDNA
  JOURNAL   Proc Natl Acad Sci U S A 86 (10), 3763-3767 (1989)
   PUBMED   2726751
REFERENCE   10 (residues 1 to 158)
  AUTHORS   Mattei MG, Perin JP, Alliel PM, Bonnet F, Maillet P, Passage E,
            Mattei JF and Jolles P.
  TITLE     Localization of human platelet proteoglycan gene to chromosome 10,
            band q22.1, by in situ hybridization
  JOURNAL   Hum Genet 82 (1), 87-88 (1989)
   PUBMED   2714783
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL442635.11, BP363056.1 and
            BC015516.1.
            
            Summary: This gene encodes a protein best known as a hematopoietic
            cell granule proteoglycan. Proteoglycans stored in the secretory
            granules of many hematopoietic cells also contain a
            protease-resistant peptide core, which may be important for
            neutralizing hydrolytic enzymes. This encoded protein was found to
            be associated with the macromolecular complex of granzymes and
            perforin, which may serve as a mediator of granule-mediated
            apoptosis. Two transcript variants, only one of them
            protein-coding, have been found for this gene. [provided by RefSeq,
            Jul 2010].
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longer isoform (1). Both variants 1 and
            3 encode isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.379077.1,
                                           SRR1163655.240448.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..158
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     Protein         1..158
                     /product="serglycin isoform 1 precursor"
                     /note="serglycin proteoglycan; proteoglycan 1, secretory
                     granule; secretory granule proteoglycan core peptide;
                     proteoglycan protein core for mast cell secretory granule;
                     hematopoetic proteoglycan core peptide; p.PG; platelet
                     proteoglycan core protein; hematopoetic proteoglycan core
                     protein; secretory granule proteoglycan core protein;
                     hematopoietic proteoglycan core protein"
                     /calculated_mol_wt=14712
     sig_peptide     1..27
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2958
     Region          3..151
                     /region_name="Serglycin"
                     /note="pfam04360"
                     /db_xref="CDD:427895"
     mat_peptide     28..158
                     /product="Serglycin. /id=PRO_0000026679"
                     /note="propagated from UniProtKB/Swiss-Prot (P10124.3)"
                     /calculated_mol_wt=14712
     Region          94..111
                     /region_name="9 X 2 AA tandem repeats of [SF]-G"
                     /note="propagated from UniProtKB/Swiss-Prot (P10124.3)"
     Site            94
                     /site_type="glycosylation"
                     /note="O-linked (Xyl...) (glycosaminoglycan) serine.
                     /evidence=ECO:0000269|PubMed:3402609; propagated from
                     UniProtKB/Swiss-Prot (P10124.3)"
     Site            96
                     /site_type="glycosylation"
                     /note="O-linked (Xyl...) (glycosaminoglycan) serine.
                     /evidence=ECO:0000269|PubMed:3402609; propagated from
                     UniProtKB/Swiss-Prot (P10124.3)"
     Site            100
                     /site_type="glycosylation"
                     /note="O-linked (Xyl...) (glycosaminoglycan) serine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P10124.3)"
     Site            102
                     /site_type="glycosylation"
                     /note="O-linked (Xyl...) (glycosaminoglycan) serine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P10124.3)"
     Site            104
                     /site_type="glycosylation"
                     /note="O-linked (Xyl...) (glycosaminoglycan) serine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P10124.3)"
     Site            106
                     /site_type="glycosylation"
                     /note="O-linked (Xyl...) (glycosaminoglycan) serine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P10124.3)"
     Site            108
                     /site_type="glycosylation"
                     /note="O-linked (Xyl...) (glycosaminoglycan) serine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P10124.3)"
     Site            110
                     /site_type="glycosylation"
                     /note="O-linked (Xyl...) (glycosaminoglycan) serine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P10124.3)"
     Region          134..158
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P10124.3)"
     CDS             1..158
                     /gene="SRGN"
                     /gene_synonym="PPG; PRG; PRG1"
                     /coded_by="NM_001321053.2:189..665"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS7285.1"
                     /db_xref="GeneID:5552"
                     /db_xref="HGNC:HGNC:9361"
                     /db_xref="MIM:177040"
ORIGIN      
        1 mmqkllkcsr lvlalalilv lessvqgypt rraryqwvrc npdsnsancl eekgpmfell
       61 pgesnkiprl rtdlfpktri qdlnrifpls edysgsgfgs gsgsgsgsgs gfltemeqdy
      121 qlvdesdafh dnlrsldrnl psdsqdlgqh gleedfml
//
LOCUS       NP_005535               1242 aa            linear   PRI 19-FEB-2023
DEFINITION  insulin receptor substrate 1 [Homo sapiens].
ACCESSION   NP_005535
VERSION     NP_005535.1
DBSOURCE    REFSEQ: accession NM_005544.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1242)
  AUTHORS   Kaewlert W, Sakonsinsiri C, Lert-Itthiporn W, Ungarreevittaya P,
            Pairojkul C, Pinlaor S, Murata M and Thanan R.
  TITLE     Overexpression of Insulin Receptor Substrate 1 (IRS1) Relates to
            Poor Prognosis and Promotes Proliferation, Stemness, Migration, and
            Oxidative Stress Resistance in Cholangiocarcinoma
  JOURNAL   Int J Mol Sci 24 (3), 2428 (2023)
   PUBMED   36768755
  REMARK    GeneRIF: Overexpression of Insulin Receptor Substrate 1 (IRS1)
            Relates to Poor Prognosis and Promotes Proliferation, Stemness,
            Migration, and Oxidative Stress Resistance in Cholangiocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1242)
  AUTHORS   Zhang X, Varma S and Yee D.
  TITLE     Suppression of Insulin Receptor Substrate 1 Inhibits Breast Cancer
            Growth In Vitro and in Female Athymic Mice
  JOURNAL   Endocrinology 164 (3) (2023)
   PUBMED   36610717
  REMARK    GeneRIF: Suppression of Insulin Receptor Substrate 1 Inhibits
            Breast Cancer Growth In Vitro and in Female Athymic Mice.
REFERENCE   3  (residues 1 to 1242)
  AUTHORS   Rasool SUA, Nabi M, Ashraf S and Amin S.
  TITLE     Insulin Receptor Substrate 1 Gly972Arg (rs1801278) Polymorphism Is
            Associated with Obesity and Insulin Resistance in Kashmiri Women
            with Polycystic Ovary Syndrome
  JOURNAL   Genes (Basel) 13 (8), 1463 (2022)
   PUBMED   36011374
  REMARK    GeneRIF: Insulin Receptor Substrate 1 Gly972Arg (rs1801278)
            Polymorphism Is Associated with Obesity and Insulin Resistance in
            Kashmiri Women with Polycystic Ovary Syndrome.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1242)
  AUTHORS   Lei Y, Jamal M, Zeng X, He H, Xiao D, Zhang C, Zhang X, Tan H, Xie
            S and Zhang Q.
  TITLE     Insulin receptor substrate 1(IRS1) is related with lymph node
            metastases and prognosis in esophageal squamous cell carcinoma
  JOURNAL   Gene 835, 146651 (2022)
   PUBMED   35688292
  REMARK    GeneRIF: Insulin receptor substrate 1(IRS1) is related with lymph
            node metastases and prognosis in esophageal squamous cell
            carcinoma.
REFERENCE   5  (residues 1 to 1242)
  AUTHORS   Psarova V, Kochuieva M, Gogunska I, Shchur O, Kochuiev G and
            Tymchenko H.
  TITLE     THE RELATIONSHIPS OF IRS-1 POLYMORPHISM WITH HEMODYNAMIC DISORDERS
            IN HYPERTENSIVE PATIENTS DEPENDING ON BODY WEIGHT AND METABOLIC
            COMORBIDITY
  JOURNAL   Wiad Lek 75 (4 pt 2), 959-964 (2022)
   PUBMED   35633325
  REMARK    GeneRIF: THE RELATIONSHIPS OF IRS-1 POLYMORPHISM WITH HEMODYNAMIC
            DISORDERS IN HYPERTENSIVE PATIENTS DEPENDING ON BODY WEIGHT AND
            METABOLIC COMORBIDITY.
REFERENCE   6  (residues 1 to 1242)
  AUTHORS   Kharitonenkov A, Schnekenburger J, Chen Z, Knyazev P, Ali S, Zwick
            E, White M and Ullrich A.
  TITLE     Adapter function of protein-tyrosine phosphatase 1D in insulin
            receptor/insulin receptor substrate-1 interaction
  JOURNAL   J Biol Chem 270 (49), 29189-29193 (1995)
   PUBMED   7493946
REFERENCE   7  (residues 1 to 1242)
  AUTHORS   Wang L, Hayashi H, Mitani Y, Ishii K, Ohnishi T, Niwa Y, Kido H and
            Ebina Y.
  TITLE     Cloning of a cDNA encoding a 190-kDa insulin receptor
            substrate-1-like protein of simian COS cells
  JOURNAL   Biochem Biophys Res Commun 216 (1), 321-328 (1995)
   PUBMED   7488107
REFERENCE   8  (residues 1 to 1242)
  AUTHORS   Hadari YR, Tzahar E, Nadiv O, Rothenberg P, Roberts CT Jr, LeRoith
            D, Yarden Y and Zick Y.
  TITLE     Insulin and insulinomimetic agents induce activation of
            phosphatidylinositol 3'-kinase upon its association with pp185
            (IRS-1) in intact rat livers
  JOURNAL   J Biol Chem 267 (25), 17483-17486 (1992)
   PUBMED   1381348
  REMARK    Erratum:[J Biol Chem 1993 Apr 25;268(12):9156]
REFERENCE   9  (residues 1 to 1242)
  AUTHORS   Nishiyama M and Wands JR.
  TITLE     Cloning and increased expression of an insulin receptor
            substrate-1-like gene in human hepatocellular carcinoma
  JOURNAL   Biochem Biophys Res Commun 183 (1), 280-285 (1992)
   PUBMED   1311924
REFERENCE   10 (residues 1 to 1242)
  AUTHORS   Sun XJ, Rothenberg P, Kahn CR, Backer JM, Araki E, Wilden PA,
            Cahill DA, Goldstein BJ and White MF.
  TITLE     Structure of the insulin receptor substrate IRS-1 defines a unique
            signal transduction protein
  JOURNAL   Nature 352 (6330), 73-77 (1991)
   PUBMED   1648180
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010735.11 and BC053895.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a protein which is phosphorylated by
            insulin receptor tyrosine kinase. Mutations in this gene are
            associated with type II diabetes and susceptibility to insulin
            resistance. [provided by RefSeq, Nov 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: S62539.1, BC053895.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2159912 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305123.6/ ENSP00000304895.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q36.3"
     Protein         1..1242
                     /product="insulin receptor substrate 1"
                     /calculated_mol_wt=131460
     Region          3..137
                     /region_name="Mediates interaction with PHIP.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Site            3
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P35570; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Region          11..118
                     /region_name="PH_IRS"
                     /note="Insulin receptor substrate (IRS) pleckstrin
                     homology (PH) domain; cd01257"
                     /db_xref="CDD:269959"
     Site            99
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000250|UniProtKB:P35570; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Region          160..263
                     /region_name="PTB_IRS"
                     /note="Insulin receptor substrate phosphotyrosine-binding
                     domain (PTBi); cd01204"
                     /db_xref="CDD:269915"
     Site            order(169,171,177)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:269915"
     Site            order(208..218,222,226..227,237,247,250,254,257..258,
                     260..261)
                     /site_type="other"
                     /note="phosphopeptide binding site [polypeptide binding]"
                     /db_xref="CDD:269915"
     Region          262..430
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Site            270
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by RPS6KB1.
                     /evidence=ECO:0000269|PubMed:18952604; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Site            307
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by RPS6KB1.
                     /evidence=ECO:0000269|PubMed:18498745,
                     ECO:0000269|PubMed:18952604; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Site            312
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by IKKB, MAPK8 and RPS6KB1.
                     /evidence=ECO:0000269|PubMed:18498745,
                     ECO:0000269|PubMed:20685959; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Site            323
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Site            330
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P35569; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Site            345
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P35569; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Site            348
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Site            419
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P35569; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Site            446
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P35570; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Site            453
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Region          465..468
                     /region_name="YXXM motif 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Site            465
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by INSR.
                     /evidence=ECO:0000250|UniProtKB:P35570; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Site            527
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by RPS6KB1.
                     /evidence=ECO:0000269|PubMed:18498745,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Region          551..554
                     /region_name="YXXM motif 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Region          592..616
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Region          612..615
                     /region_name="YXXM motif 3"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Site            612
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by INSR.
                     /evidence=ECO:0000269|PubMed:23401856,
                     ECO:0000269|PubMed:30092354; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Site            629
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Region          632..635
                     /region_name="YXXM motif 4"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Site            632
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by INSR.
                     /evidence=ECO:0000269|PubMed:23401856; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Site            636
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by RPS6KB1.
                     /evidence=ECO:0000269|PubMed:18498745,
                     ECO:0000269|PubMed:18952604, ECO:0007744|PubMed:17081983;
                     propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Region          662..665
                     /region_name="YXXM motif 5"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Site            662
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Region          668..693
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Region          732..735
                     /region_name="YXXM motif 6"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Region          771..900
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Site            794
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by AMPK and SIK2.
                     /evidence=ECO:0000269|PubMed:12624099; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Site            892
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P35569; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Region          896..898
                     /region_name="GRB2-binding. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Site            896
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by INSR.
                     /evidence=ECO:0000269|PubMed:23401856; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Region          918..937
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Region          941..944
                     /region_name="YXXM motif 7"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Site            941
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by INSR.
                     /evidence=ECO:0000269|PubMed:20685959; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Region          989..992
                     /region_name="YXXM motif 8"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Site            989
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by INSR.
                     /evidence=ECO:0000250|UniProtKB:P35570; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Region          1012..1015
                     /region_name="YXXM motif 9"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Region          1057..1146
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Site            1100
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P35569; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Site            1101
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by RPS6KB1 and PKC/PRKCQ.
                     /evidence=ECO:0000269|PubMed:15364919,
                     ECO:0000269|PubMed:18952604; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Site            1179
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by INSR.
                     /evidence=ECO:0000250|UniProtKB:P35570; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     Region          1190..1242
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35568.1)"
     Site            1229
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by INSR.
                     /evidence=ECO:0000250|UniProtKB:P35570; propagated from
                     UniProtKB/Swiss-Prot (P35568.1)"
     CDS             1..1242
                     /gene="IRS1"
                     /gene_synonym="HIRS-1"
                     /coded_by="NM_005544.3:1083..4811"
                     /db_xref="CCDS:CCDS2463.1"
                     /db_xref="GeneID:3667"
                     /db_xref="HGNC:HGNC:6125"
                     /db_xref="MIM:147545"
ORIGIN      
        1 masppesdgf sdvrkvgylr kpksmhkrff vlraaseagg parleyyene kkwrhkssap
       61 krsiplescf ninkradskn khlvalytrd ehfaiaadse aeqdswyqal lqlhnrakgh
      121 hdgaaalgag ggggscsgss glgeagedls ygdvppgpaf kevwqvilkp kglgqtknli
      181 giyrlcltsk tisfvklnse aaavvlqlmn irrcghsenf ffievgrsav tgpgefwmqv
      241 ddsvvaqnmh etileamram sdefrprsks qsssncsnpi svplrrhhln npppsqvglt
      301 rrsrtesita tspasmvggk pgsfrvrass dgegtmsrpa svdgspvsps tnrthahrhr
      361 gsarlhppln hsrsipmpas rcspsatspv slsssstsgh gstsdclfpr rssasvsgsp
      421 sdggfissde ygsspcdfrs sfrsvtpdsl ghtppargee elsnyicmgg kgpstltapn
      481 ghyilsrggn ghrctpgtgl gtspalagde aasaadldnr frkrthsagt sptithqktp
      541 sqssvasiee ytemmpaypp gggsggrlpg hrhsafvptr sypeeglemh plerrgghhr
      601 pdsstlhtdd gympmspgva pvpsgrkgsg dympmspksv sapqqiinpi rrhpqrvdpn
      661 gymmmspsgg cspdigggps ssssssnavp sgtsygklwt ngvgghhshv lphpkppves
      721 sggkllpctg dymnmspvgd sntsspsdcy ygpedpqhkp vlsyyslprs fkhtqrpgep
      781 eegarhqhlr lstssgrlly aataddssss tssdslgggy cgarlepslp hphhqvlqph
      841 lprkvdtaaq tnsrlarptr lslgdpkast lprareqqqq qqpllhppep kspgeyvnie
      901 fgsdqsgyls gpvafhssps vrcpsqlqpa preeetgtee ymkmdlgpgr raawqestgv
      961 emgrlgpapp gaasicrptr avpssrgdym tmqmscprqs yvdtspaapv syadmrtgia
     1021 aeevslprat maaassssaa sasptgpqga aelaahssll ggpqgpggms aftrvnlspn
     1081 rnqsakvira dpqgcrrrhs setfsstpsa trvgntvpfg agaavggggg sssssedvkr
     1141 hssasfenvw lrpgelggap kepaklcgaa gglenglnyi dldlvkdfkq cpqectpepq
     1201 ppppppphqp lgsgessstr rssedlsaya sisfqkqped rq
//
LOCUS       NP_064560                650 aa            linear   PRI 12-MAR-2023
DEFINITION  tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like isoform 1 [Homo
            sapiens].
ACCESSION   NP_064560
VERSION     NP_064560.2
DBSOURCE    REFSEQ: accession NM_020175.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 650)
  AUTHORS   Finet O, Yague-Sanz C, Kruger LK, Tran P, Migeot V, Louski M,
            Nevers A, Rougemaille M, Sun J, Ernst FGM, Wacheul L, Wery M,
            Morillon A, Dedon P, Lafontaine DLJ and Hermand D.
  TITLE     Transcription-wide mapping of dihydrouridine reveals that mRNA
            dihydrouridylation is required for meiotic chromosome segregation
  JOURNAL   Mol Cell 82 (2), 404-419 (2022)
   PUBMED   34798057
REFERENCE   2  (residues 1 to 650)
  AUTHORS   Dai W, Li A, Yu NJ, Nguyen T, Leach RW, Wuhr M and Kleiner RE.
  TITLE     Activity-based RNA-modifying enzyme probing reveals DUS3L-mediated
            dihydrouridylation
  JOURNAL   Nat Chem Biol 17 (11), 1178-1187 (2021)
   PUBMED   34556860
REFERENCE   3  (residues 1 to 650)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 650)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK315691.1, AC011499.5 and BC008362.1.
            On Jun 11, 2009 this sequence version replaced NP_064560.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK225840.1, AK023958.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309061.12/ ENSP00000311977.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..650
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..650
                     /product="tRNA-dihydrouridine(47) synthase
                     [NAD(P)(+)]-like isoform 1"
                     /EC_number="1.3.1.89"
                     /note="mRNA-dihydrouridine synthase DUS3L"
                     /calculated_mol_wt=72463
     Region          1..24
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96G46.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q96G46.2)"
     Region          46..120
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96G46.2)"
     Region          <93..162
                     /region_name="Zn_finger_prot"
                     /note="Putative zinc finger protein; pfam19242"
                     /db_xref="CDD:437074"
     Region          235..284
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96G46.2)"
     Site            236
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96G46.2)"
     Site            273
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96G46.2)"
     Site            276
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96G46.2)"
     Site            277
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q91XI1; propagated from
                     UniProtKB/Swiss-Prot (Q96G46.2)"
     Region          306..538
                     /region_name="DUS_like_FMN"
                     /note="Dihydrouridine synthase-like (DUS-like) FMN-binding
                     domain. Members of this family catalyze the reduction of
                     the 5,6-double bond of a uridine residue on tRNA.
                     Dihydrouridine modification of tRNA is widely observed in
                     prokaryotes and eukaryotes, and also...; cd02801"
                     /db_xref="CDD:239200"
     Site            order(310..312,336,365,393,435,465,497,499,520..521)
                     /site_type="other"
                     /note="FMN binding site [chemical binding]"
                     /db_xref="CDD:239200"
     Site            order(365,396..397,435,437,464..465,467..468,498..499,521)
                     /site_type="active"
                     /db_xref="CDD:239200"
     Site            order(396,437,465,467)
                     /site_type="active"
                     /note="catalytic residues [active]"
                     /db_xref="CDD:239200"
     Site            order(397,435,464,468,498..499)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:239200"
     CDS             1..650
                     /gene="DUS3L"
                     /gene_synonym="DUS3"
                     /coded_by="NM_020175.3:23..1975"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS32880.1"
                     /db_xref="GeneID:56931"
                     /db_xref="HGNC:HGNC:26920"
ORIGIN      
        1 maegtaeapl enggggdsga galergvapi krqylttkeq fhqfleakgq ektcretevg
       61 dpagnelaep eakrirledg qtadgqteea aepgeqlqtq krargqnkgr phvkptnydk
      121 nrlcpsliqe saakcffgdr crflhdvgry letkpadlgp rcvlfetfgr cpygvtcrfa
      181 gahlrpegqn lvqeelaarg tqppsirngl dkalqqqlrk revrferaeq alrrfsqgpt
      241 paaavpegta aegaprqenc gaqqvpagpg tstppsspvr tcgpltdedv vrlrpcekkr
      301 ldirgklyla plttcgnlpf rrickrfgad vtcgemavct nllqgqmsew allkrhqced
      361 ifgvqlegaf pdtmtkcael lsrtvevdfv dinvgcpidl vykkgggcal mnrstkfqqi
      421 vrgmnqvldv pltvkirtgv qervnlahrl lpelrdwgva lvtlhgrsre qrytkladwq
      481 yieecvqaas pmplfgngdi lsfedanram qtgvtgimia rgallkpwlf teikeqrhwd
      541 issserldil rdftnygleh wgsdtqgvek trrfllewls flcryvpvgl lerlpqrine
      601 rppyylgrdy letlmasqka adwiriseml lgpvppsfaf lpkhkanayk
//
LOCUS       NP_003951                227 aa            linear   PRI 14-MAR-2023
DEFINITION  N-acetyltransferase 8 [Homo sapiens].
ACCESSION   NP_003951
VERSION     NP_003951.3
DBSOURCE    REFSEQ: accession NM_003960.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 227)
  AUTHORS   Zhao X, Yuan H, Yang H, Liu Y, Xun M, Li X, Fan T, Wu B, Guo S and
            Wang H.
  TITLE     N-Acetyltransferase 8 Promotes Viral Replication by Increasing the
            Stability of Enterovirus 71 Nonstructural Proteins
  JOURNAL   J Virol 96 (6), e0011922 (2022)
   PUBMED   35170979
  REMARK    GeneRIF: N-Acetyltransferase 8 Promotes Viral Replication by
            Increasing the Stability of Enterovirus 71 Nonstructural Proteins.
REFERENCE   2  (residues 1 to 227)
  AUTHORS   Luo S, Surapaneni A, Zheng Z, Rhee EP, Coresh J, Hung AM, Nadkarni
            GN, Yu B, Boerwinkle E, Tin A, Arking DE, Steinbrenner I, Schlosser
            P, Kottgen A and Grams ME.
  TITLE     NAT8 Variants, N-Acetylated Amino Acids, and Progression of CKD
  JOURNAL   Clin J Am Soc Nephrol 16 (1), 37-47 (2020)
   PUBMED   33380473
  REMARK    GeneRIF: NAT8 Variants, N-Acetylated Amino Acids, and Progression
            of CKD.
REFERENCE   3  (residues 1 to 227)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 227)
  AUTHORS   Zand B, Previs RA, Zacharias NM, Rupaimoole R, Mitamura T, Nagaraja
            AS, Guindani M, Dalton HJ, Yang L, Baddour J, Achreja A, Hu W,
            Pecot CV, Ivan C, Wu SY, McCullough CR, Gharpure KM, Shoshan E,
            Pradeep S, Mangala LS, Rodriguez-Aguayo C, Wang Y, Nick AM, Davies
            MA, Armaiz-Pena G, Liu J, Lutgendorf SK, Baggerly KA, Eli MB,
            Lopez-Berestein G, Nagrath D, Bhattacharya PK and Sood AK.
  TITLE     Role of Increased n-acetylaspartate Levels in Cancer
  JOURNAL   J Natl Cancer Inst 108 (6), djv426 (2016)
   PUBMED   26819345
  REMARK    GeneRIF: Findings indicate that the NAA pathway has a prominent
            role in promoting tumor growth and represents a valuable target for
            anticancer therapy.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 227)
  AUTHORS   Ding Y, Dellisanti CD, Ko MH, Czajkowski C and Puglielli L.
  TITLE     The endoplasmic reticulum-based acetyltransferases, ATase1 and
            ATase2, associate with the oligosaccharyltransferase to acetylate
            correctly folded polypeptides
  JOURNAL   J Biol Chem 289 (46), 32044-32055 (2014)
   PUBMED   25301944
  REMARK    GeneRIF: ATase1 and ATase2 are endoplasmic reticulum-based
            acetyltransferases that form homo- and heterodimers and associate
            with members of the oligosaccharyltransferase complex
REFERENCE   6  (residues 1 to 227)
  AUTHORS   Juhanson P, Kepp K, Org E, Veldre G, Kelgo P, Rosenberg M, Viigimaa
            M and Laan M.
  TITLE     N-acetyltransferase 8, a positional candidate for blood pressure
            and renal regulation: resequencing, association and in silico study
  JOURNAL   BMC Med Genet 9, 25 (2008)
   PUBMED   18402670
  REMARK    GeneRIF: we raise the hypothesis that the alternative SNP alleles
            of the NAT8 upstream region may have differential effect on gene
            expression
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 227)
  AUTHORS   Barrios-Rodiles M, Brown KR, Ozdamar B, Bose R, Liu Z, Donovan RS,
            Shinjo F, Liu Y, Dembowy J, Taylor IW, Luga V, Przulj N, Robinson
            M, Suzuki H, Hayashizaki Y, Jurisica I and Wrana JL.
  TITLE     High-throughput mapping of a dynamic signaling network in mammalian
            cells
  JOURNAL   Science 307 (5715), 1621-1625 (2005)
   PUBMED   15761153
REFERENCE   8  (residues 1 to 227)
  AUTHORS   Popsueva AE, Luchinskaya NN, Ludwig AV, Zinovjeva OY, Poteryaev DA,
            Feigelman MM, Ponomarev MB, Berekelya L and Belyavsky AV.
  TITLE     Overexpression of camello, a member of a novel protein family,
            reduces blastomere adhesion and inhibits gastrulation in Xenopus
            laevis
  JOURNAL   Dev Biol 234 (2), 483-496 (2001)
   PUBMED   11397015
REFERENCE   9  (residues 1 to 227)
  AUTHORS   Ozaki K, Fujiwara T, Nakamura Y and Takahashi E.
  TITLE     Isolation and mapping of a novel human kidney- and liver-specific
            gene homologous to the bacterial acetyltransferases
  JOURNAL   J Hum Genet 43 (4), 255-258 (1998)
   PUBMED   9852678
REFERENCE   10 (residues 1 to 227)
  AUTHORS   Vereb,J., Demant,F., Pavkovcekova,O. and Tischler,V.
  TITLE     [Agenesis and aplasia of the kidney in children in the x-ray
            diagnostic picture]
  JOURNAL   Cesk Pediatr 30 (3), 94-97 (1975)
   PUBMED   1139715
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092653.3 and BG426653.1.
            On Nov 1, 2006 this sequence version replaced NP_003951.2.
            
            Summary: This gene, isolated using the differential display method
            to detect tissue-specific genes, is specifically expressed in
            kidney and liver. The encoded protein shows amino acid sequence
            similarity to N-acetyltransferases. A similar protein in Xenopus
            affects cell adhesion and gastrulation movements, and may be
            localized in the secretory pathway. A highly similar paralog is
            found in a cluster with this gene. [provided by RefSeq, Sep 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC012626.1, AF187813.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2159080
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000272425.4/ ENSP00000272425.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..227
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     Protein         1..227
                     /product="N-acetyltransferase 8"
                     /EC_number="2.3.1.80"
                     /note="kidney- and liver-specific gene product;
                     N-acetyltransferase 8 (GCN5-related, putative);
                     N-acetyltransferase 8 (camello like); camello-like protein
                     1; probable N-acetyltransferase 8; acetyltransferase 2;
                     cysteinyl-conjugate N-acetyltransferase"
                     /calculated_mol_wt=25488
     Site            43..63
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHE5.2)"
     Region          92..193
                     /region_name="Acetyltransf_1"
                     /note="Acetyltransferase (GNAT) family; pfam00583"
                     /db_xref="CDD:395465"
     Site            order(142..144,154..155)
                     /site_type="other"
                     /note="Coenzyme A binding pocket [chemical binding]"
                     /db_xref="CDD:173926"
     CDS             1..227
                     /gene="NAT8"
                     /gene_synonym="ATase2; CCNAT; CML1; GLA; Hcml1; TSC501;
                     TSC510"
                     /coded_by="NM_003960.4:180..863"
                     /db_xref="CCDS:CCDS1926.1"
                     /db_xref="GeneID:9027"
                     /db_xref="HGNC:HGNC:18069"
                     /db_xref="MIM:606716"
ORIGIN      
        1 mapchirkyq esdrqwvvgl lsrgmaehap atfrqllklp rtlilllggp lalllvsgsw
       61 llalvfsisl fpalwflakk pwteyvdmtl ctdmsditks ylsergscfw vaeseekvvg
      121 mvgalpvddp tlrekrlqlf hlfvdsehrr qgiakalvrt vlqfardqgy sevildtgti
      181 qlsamalyqs mgfkktgqsf fcvwarlval htvhfiyhlp sskvgsl
//
LOCUS       NP_001305867             644 aa            linear   PRI 15-MAR-2023
DEFINITION  ribosomal protein S6 kinase alpha-2 isoform e [Homo sapiens].
ACCESSION   NP_001305867
VERSION     NP_001305867.1
DBSOURCE    REFSEQ: accession NM_001318938.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 644)
  AUTHORS   Kumari A, Gesumaria L, Liu YJ, Hughitt VK, Zhang X, Ceribelli M,
            Wilson KM, Klumpp-Thomas C, Chen L, McKnight C, Itkin Z, Thomas CJ,
            Mock BA, Schrump DS and Chen H.
  TITLE     mTOR inhibition overcomes RSK3-mediated resistance to BET
            inhibitors in small cell lung cancer
  JOURNAL   JCI Insight 8 (5), e156657 (2023)
   PUBMED   36883564
  REMARK    GeneRIF: mTOR inhibition overcomes RSK3-mediated resistance to BET
            inhibitors in small cell lung cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 644)
  AUTHORS   Xu H, Li X, Wang S, Li F, Gao J, Yan L and Zhu L.
  TITLE     Multiomics analysis identifies key genes and pathways related to
            N6-methyladenosine RNA modification in ovarian cancer
  JOURNAL   Epigenomics 13 (17), 1359-1383 (2021)
   PUBMED   34550011
  REMARK    GeneRIF: Multiomics analysis identifies key genes and pathways
            related to N6-methyladenosine RNA modification in ovarian cancer.
REFERENCE   3  (residues 1 to 644)
  AUTHORS   Sung H, Hyland PL, Pemov A, Sabourin JA, Baldwin AM, Bass S,
            Teshome K, Luo W, Widemann BC, Stewart DR and Wilson AF.
  CONSRTM   Frederick National Laboratory for Cancer Research
  TITLE     Genome-wide association study of cafe-au-lait macule number in
            neurofibromatosis type 1
  JOURNAL   Mol Genet Genomic Med 8 (10), e1400 (2020)
   PUBMED   32869517
  REMARK    GeneRIF: Genome-wide association study of cafe-au-lait macule
            number in neurofibromatosis type 1.
REFERENCE   4  (residues 1 to 644)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 644)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   6  (residues 1 to 644)
  AUTHORS   Zhao Y, Bjorbaek C and Moller DE.
  TITLE     Regulation and interaction of pp90(rsk) isoforms with
            mitogen-activated protein kinases
  JOURNAL   J Biol Chem 271 (47), 29773-29779 (1996)
   PUBMED   8939914
REFERENCE   7  (residues 1 to 644)
  AUTHORS   Xing J, Ginty DD and Greenberg ME.
  TITLE     Coupling of the RAS-MAPK pathway to gene activation by RSK2, a
            growth factor-regulated CREB kinase
  JOURNAL   Science 273 (5277), 959-963 (1996)
   PUBMED   8688081
REFERENCE   8  (residues 1 to 644)
  AUTHORS   Wong EV, Schaefer AW, Landreth G and Lemmon V.
  TITLE     Involvement of p90rsk in neurite outgrowth mediated by the cell
            adhesion molecule L1
  JOURNAL   J Biol Chem 271 (30), 18217-18223 (1996)
   PUBMED   8663493
REFERENCE   9  (residues 1 to 644)
  AUTHORS   Zhao Y, Bjorbaek C, Weremowicz S, Morton CC and Moller DE.
  TITLE     RSK3 encodes a novel pp90rsk isoform with a unique N-terminal
            sequence: growth factor-stimulated kinase function and nuclear
            translocation
  JOURNAL   Mol Cell Biol 15 (8), 4353-4363 (1995)
   PUBMED   7623830
REFERENCE   10 (residues 1 to 644)
  AUTHORS   Moller DE, Xia CH, Tang W, Zhu AX and Jakubowski M.
  TITLE     Human rsk isoforms: cloning and characterization of tissue-specific
            expression
  JOURNAL   Am J Physiol 266 (2 Pt 1), C351-C359 (1994)
   PUBMED   8141249
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC402728.1, Z98049.1,
            AK295674.1, AL022069.1, AB209116.1 and BQ029058.1.
            
            Summary: This gene encodes a member of the RSK (ribosomal S6
            kinase) family of serine/threonine kinases. This kinase contains
            two non-identical kinase catalytic domains and phosphorylates
            various substrates, including members of the mitogen-activated
            kinase (MAPK) signalling pathway. The activity of this protein has
            been implicated in controlling cell growth and differentiation.
            Alternative splice variants, encoding different isoforms, have been
            characterized. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (5) differs in the 5' UTR and
            lacks a portion of the 5' coding region compared to variant 1, and
            initiates translation at a downstream start codon. The encoded
            isoform (e) has a shorter N-terminus than isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK310428.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..644
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q27"
     Protein         1..644
                     /product="ribosomal protein S6 kinase alpha-2 isoform e"
                     /EC_number="2.7.11.1"
                     /note="ribosomal S6 kinase 3; ribosomal protein S6 kinase
                     alpha-2; MAPK-activated protein kinase 1c; ribosomal
                     protein S6 kinase, 90kDa, polypeptide 2; MAP
                     kinase-activated protein kinase 1c; mitogen-activated
                     protein kinase-activated protein kinase 1C"
                     /calculated_mol_wt=72984
     Region          1..290
                     /region_name="STKc_RSK_N"
                     /note="N-terminal catalytic domain of the Serine/Threonine
                     Kinase, 90 kDa ribosomal protein S6 kinase; cd05582"
                     /db_xref="CDD:270734"
     Site            order(56,58,95,97,99,116,130..135,162,168,171)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270734"
     Site            order(112..123,125..135)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270734"
     Site            271
                     /site_type="other"
                     /note="turn motif phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:270734"
     Site            284..289
                     /site_type="other"
                     /note="hydrophobic motif (HM)"
                     /db_xref="CDD:270734"
     Region          322..614
                     /region_name="STKc_RSK3_C"
                     /note="C-terminal catalytic domain of the Serine/Threonine
                     Kinase, Ribosomal S6 kinase 3 (also called Ribosomal
                     protein S6 kinase alpha-2 or 90kDa ribosomal protein S6
                     kinase 2); cd14178"
                     /db_xref="CDD:271080"
     Site            order(332..336,340,353,355,381,397..400,404,406,442..443,
                     445,447..448,450,464..465,468,483..487,489)
                     /site_type="active"
                     /db_xref="CDD:271080"
     Site            order(332..335,340,353,355,381,397..400,404,447..448,450,
                     464..465)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271080"
     Site            order(336,404,406,442..443,445,447,468,483..487,489)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271080"
     Site            464..487
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271080"
     CDS             1..644
                     /gene="RPS6KA2"
                     /gene_synonym="HU-2; MAPKAPK1C; p90-RSK3; p90RSK2;
                     pp90RSK3; RSK; RSK3; S6K-alpha; S6K-alpha2"
                     /coded_by="NM_001318938.1:260..2194"
                     /note="isoform e is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS83147.1"
                     /db_xref="GeneID:6196"
                     /db_xref="HGNC:HGNC:10431"
                     /db_xref="MIM:601685"
ORIGIN      
        1 mkvlkkatlk vrdrvrskme rdilaevnhp fivklhyafq tegklylild flrggdlftr
       61 lskevmftee dvkfylaela laldhlhslg iiyrdlkpen illdeeghik itdfglskea
      121 idhdkraysf cgtieymape vvnrrghtqs adwwsfgvlm femltgslpf qgkdrketma
      181 lilkaklgmp qflsgeaqsl lralfkrnpc nrlgagidgv eeikrhpffv tidwntlyrk
      241 eikppfkpav grpedtfhfd peftartptd spgvppsana hhlfrgfsfv assliqepsq
      301 qdlhkvpvhp ivqqlhgnni hftdgyeike digvgsysvc krcvhkatdt eyavkiidks
      361 krdpseeiei llrygqhpni itlkdvyddg kfvylvmelm rggelldril rqryfserea
      421 sdvlctitkt mdylhsqgvv hrdlkpsnil yrdesgspes irvcdfgfak qlragngllm
      481 tpcytanfva pevlkrqgyd aacdiwslgi llytmlagft pfangpddtp eeilarigsg
      541 kyalsggnwd sisdaakdvv skmlhvdphq rltamqvlkh pwvvnreyls pnqlsrqdvh
      601 lvkgamaaty falnrtpqap rlepvlssnl aqrrgmkrlt strl
//
LOCUS       XP_047300208             507 aa            linear   PRI 20-MAR-2023
DEFINITION  afadin- and alpha-actinin-binding protein isoform X6 [Homo
            sapiens].
ACCESSION   XP_047300208
VERSION     XP_047300208.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444252.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..507
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..507
                     /product="afadin- and alpha-actinin-binding protein
                     isoform X6"
                     /calculated_mol_wt=59287
     Region          63..214
                     /region_name="ADIP"
                     /note="Afadin- and alpha -actinin-Binding; pfam11559"
                     /db_xref="CDD:431934"
     Region          <126..397
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..507
                     /gene="SSX2IP"
                     /gene_synonym="ADIP; hMsd1"
                     /coded_by="XM_047444252.1:231..1754"
                     /db_xref="GeneID:117178"
                     /db_xref="HGNC:HGNC:16509"
                     /db_xref="MIM:608690"
ORIGIN      
        1 mgdwmtvtdp glssesktis qytsetkmsp sslysqqvlc ssiplsknvh sffsafcted
       61 nieqsisyld qelttfgfps lyeeskgket krelnivavl ncmnellvlq rknllaqenv
      121 etqnlklgsd mdhlqscysk lkeqletsrr emiglqerdr qlqcknrnlh qllknekdev
      181 qklqniiasr atqynhdmkr kereynklke rlhqlvmnkk dkkiamdiln yvgradgkrg
      241 swrtgktear nedemykill ndyeyrqkqi lmenaelkkv lqqmkkemis llspqkkkpr
      301 ervddstgtv isdveedage lsresmwdls cetvreqltn sirkqwrilk shvekldnqv
      361 skvhlegfnd edvisrqdhe qeteklelei qqckemiktq qqllqqlata ydddttsllr
      421 dcylleeker lkeewslfke qkknfererr sfteaairlg leigflllsv lhkksllgih
      481 hsstvsrcgv rrqcnqdyic clkkkgi
//
LOCUS       XP_016858212            1209 aa            linear   PRI 20-MAR-2023
DEFINITION  period circadian protein homolog 3 isoform X3 [Homo sapiens].
ACCESSION   XP_016858212
VERSION     XP_016858212.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002723.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1209
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1209
                     /product="period circadian protein homolog 3 isoform X3"
                     /calculated_mol_wt=132458
     Region          284..376
                     /region_name="PAS"
                     /note="PAS domain; PAS motifs appear in archaea,
                     eubacteria and eukarya. Probably the most surprising
                     identification of a PAS domain was that in EAG-like
                     K+-channels. PAS domains have been found to bind ligands,
                     and to act as sensors for light and oxygen in...; cd00130"
                     /db_xref="CDD:238075"
     Site            order(287,291,297,310..313,342,347)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238075"
     Site            order(307,311,319,322..323,354,356)
                     /site_type="other"
                     /note="heme pocket [chemical binding]"
                     /db_xref="CDD:238075"
     Region          <755..1065
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          <1082..1184
                     /region_name="Period_C"
                     /note="Period protein 2/3C-terminal region; pfam12114"
                     /db_xref="CDD:432341"
     CDS             1..1209
                     /gene="PER3"
                     /gene_synonym="FASPS3; GIG13"
                     /coded_by="XM_017002723.3:311..3940"
                     /db_xref="GeneID:8863"
                     /db_xref="HGNC:HGNC:8847"
                     /db_xref="MIM:603427"
ORIGIN      
        1 mprgeapgpg rrgakdealg eesgerwspe fhlqrklads shseqqdrnr vseelimvvq
       61 emkkyfpser rnkpstldal nyalrcvhsv qanseffqil sqngapqadv smysleelat
      121 iasehtsknt dtfvavfsfl sgrlvhiseq aalilnrkkd vlasshfvdl lapqdmrvfy
      181 ahtaraqlpf wnnwtqraar yecapvkpff crirggedrk qekchspfri ipylihvhhp
      241 aqpelesepc cltvvekihs gyeapripvn krifttthtp gcvflevdek avpllgylpq
      301 dligtsilsy lhpedrslmv aihqkvlkya ghppfehspi rfctqngdyi ildsswssfv
      361 npwsrkisfi igrhkvrtsp lnedvfatki kkmndndkdi telqeqiykl llqpvhvsvs
      421 sgygslgssg sqeqlvsias sseasghrve etkaeqmtlq qvyasvnkik nlgqqlyies
      481 mtkssfkpvt gtrtepnggg esangggeck tftsfhqtlk nnsvytepce dlrndehsps
      541 yqqincidsv irylksynip alkrkcisct nttsssseed kqnhkaddvq alqaglqipa
      601 ipksemptng rsidtgggap qilstamlsl gsgisqcgys stivhvpppe tardatlfce
      661 pwtlnmqpap ltseefkhvg ltaavlsaht qkeeqnyvdk frekilsspy ssylqqesrs
      721 kakysyfqgd stskqtrsag crkgkhkrkk lpeppdssss ntgsgprrga hqnaqpccps
      781 aassphtssp tfppaamvps qapylvpafp lpaatspgre yaapgtapeg lhglplsegl
      841 qpypafpfpy ldtfmtvflp dppvcpllsp sflpcpflga tassaispsm ssamsptldp
      901 ppsvtsqrre eekweaqseg hpfitsrsss plqlnllqee mprpsespdq mrrntcpqte
      961 yqcvtgnngs esspattgal stgspprenp shptasalst gsppmknpsh ptasalstgs
     1021 ppmknpshpt astlsmglpp srtpshptat vlstgsppse spsrtgsaas gssdssiylt
     1081 ssvysskisq ngqqsqdvqk ketfpnvaee piwrmirqtp erilmtyqvp ervkevvlke
     1141 dleklesmrq qqpqfshgqk eelakvynwi qsqtvtqeid iqacvtcene dsadgaatsc
     1201 gqvlvedsc
//
LOCUS       XP_047281456            1867 aa            linear   PRI 20-MAR-2023
DEFINITION  sickle tail protein homolog isoform X8 [Homo sapiens].
ACCESSION   XP_047281456
VERSION     XP_047281456.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425500.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1867
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1867
                     /product="sickle tail protein homolog isoform X8"
                     /calculated_mol_wt=205660
     Region          188..>319
                     /region_name="AIP3"
                     /note="Actin interacting protein 3; pfam03915"
                     /db_xref="CDD:427585"
     Region          <1621..1784
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..1867
                     /gene="KIAA1217"
                     /gene_synonym="ETL4; SKT"
                     /coded_by="XM_047425500.1:57..5660"
                     /db_xref="GeneID:56243"
                     /db_xref="HGNC:HGNC:25428"
                     /db_xref="MIM:617367"
ORIGIN      
        1 meenesqkce pclpysadrr qmqeqgkgnl hvtspedaec rrtkerlsng nsrgsvskss
       61 rniprrhtlg gprsskeilg mqtsemdrkr eaflehlkqk yphhasaimg hqerlrdqtr
      121 spklshspqp pslgdpvehl setsadslea msegdaptpf srgsrtrasl pvvrstnqtk
      181 erslgvlylq ygdetkqlrm pneitsadti ralfvsafpq qltmkmlesp svaiyikdes
      241 rnvyyelndv rniqdrsllk vynkdpahaf nhtpktmngd mrmqrelvya rgdgpgaprp
      301 gstahpphai pnsppstpvp hsmppspsri pyggtrsmvv pgnatiprdr isslpvsrpi
      361 spspsailer rdvkpdedms gkniamyrne gfyadpylyh egrmsiassh gghpldvpdh
      421 iiayhrtair sasaycnpsm qaemhmeqsl yrqksrkypd shlptlgskt ppasphrvsd
      481 lrmidmhahy nahgpphtmq pdraspsrqa fkkepgtlvy iekprsaagl sslvdlgppl
      541 mekqvfayst atipkdrets ekmmkttanr nhtdsagtph vsggkmlsal estvppsqpp
      601 pvgtsaihms llemrrsvae lrlqlqqmrq lqlqnqellr ammkkaelei sgkvmetmkr
      661 ledpvqrqrv lveqerqkyl heeekivkkl celedfvedl kkdstaasrl vtlkdvedga
      721 fllrqvgeav atlkgefptl qnkmrailri eveavrflke ephkldsllk rvrsmtdvlt
      781 mlrrhvtdgl lkgtdaaqaa qymamekata aevlksqeea ahtsgqpfhs tgapgdakse
      841 vvplsgmmvr haqsspvviq psqhsvalln paqnlphvas spavpqeats tlqmsqapqs
      901 pqipmngsam qslfieeihs vsaknravsi ekaekkweek rqnldhyngk efeklleeaq
      961 animksipnl emppatgplp rgdapvdkve lsdspnseqd leklggkspp pppppprrsy
     1021 lpgsgltttr sgdvvytgrk enitakasse dagpspqtra tkypaeepas awtpspppvt
     1081 tssskdeeee eeegdkimae lqnleffhed vrksdveyen gpqmefqkvt tgavrpsdpp
     1141 kwergmensi sdasrtseyk teiimkensi snmsllrdsr nysqetvpka sfgfsgispl
     1201 edeinkgski sglqysipdt enqtlnygkt kemekqntdk chvsshtrlt essvhdfkte
     1261 dqevittdfg qvvlrpkear hanvnpnedg esssssptee naatdniafm itettvqvls
     1321 sgevhdivsq kgediqtvni darkemtprq egtdnedpvv cldkkpviii fdepmdirsa
     1381 ykrlstifee cdeelermmm eekieeeeee engdsvvqnn ntsqmshkkv apgnlrtgqq
     1441 vetksqphsl atetrnpggq emnrtelnkf shvdspnsec kgedatddqf espkkkfkfk
     1501 fpkkqlaalt qairtgtktg kktlqvvvye eeeedgtlkq hkeakrfeia rsqpedtpen
     1561 tvrrqeqpsi estspisrtd eirkntyrtl dsleqtikql entisemspk alvdtscssn
     1621 rdsvassshi aqeasprpll vpdegptale pptsipsasr kgssgapqts rmpvpmsakn
     1681 rpgtldkpgk qsklqdprqy rqangsakks ggdfkptsps lpaskipals pssgkssslp
     1741 sssgdssnlp nppatkpsia snplspqtgp pahsaslips vsngslkfqs lthtgkghhl
     1801 sfspqsqngr appplsfsss ppspassvsl nqgakgtrti htpsltsyka qngssskatp
     1861 stakets
//
LOCUS       XP_011518206             492 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptotagmin-9 isoform X5 [Homo sapiens].
ACCESSION   XP_011518206
VERSION     XP_011518206.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011519904.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..492
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..492
                     /product="synaptotagmin-9 isoform X5"
                     /calculated_mol_wt=56038
     Region          221..345
                     /region_name="C2"
                     /note="C2 domain; cl14603"
                     /db_xref="CDD:449331"
     Region          354..487
                     /region_name="C2B_Synaptotagmin-3-5-6-9-10"
                     /note="C2 domain second repeat present in Synaptotagmins
                     3, 5, 6, 9, and 10; cd08403"
                     /db_xref="CDD:176048"
     Site            order(383,389,413,443,445,451)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176048"
     CDS             1..492
                     /gene="SYT9"
                     /coded_by="XM_011519904.3:284..1762"
                     /db_xref="GeneID:143425"
                     /db_xref="HGNC:HGNC:19265"
                     /db_xref="MIM:613528"
ORIGIN      
        1 mpgardalch qalqllaelc argalehdsc qdfiyhlrdr arprlrdpdi svslltlvvt
       61 acglalfgvs lfvswklcwv pwrerglpsg skdnnqepln ymdtetneqe nsedfldppt
      121 pcpdssmkis htspdiplst qtgiqencah gvrvqrqvte ptssarhnsi rrqlnlsnpd
      181 fniqqlqkqe qltgigrikp elykqrsldn ddgrrsnska cgklnfilky dcdleqlivk
      241 ihkavnlpak dfsgtsdpyv kiyllpdrkt khqtkvhrkt lnpvfdevfl fpvpyndlea
      301 rklhfsvydf drfsrhdlig qvvvdhfldl adfprecilw kdieyvtndn vdlgelmfsl
      361 cylptagrlt itiikarnlk amditgasdp yvkvslmcdg rrlkkrktst krntlnpvyn
      421 eaivfdvppe nidqihlsia vmdydrvghn eiigvcqvgn eaerlgrdhw semlsyprkp
      481 iahwhslvea hg
//
LOCUS       XP_047283527             272 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 215 isoform X2 [Homo sapiens].
ACCESSION   XP_047283527
VERSION     XP_047283527.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427571.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..272
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..272
                     /product="zinc finger protein 215 isoform X2"
                     /calculated_mol_wt=31586
     Region          44..132
                     /region_name="SCAN"
                     /note="SCAN domain; pfam02023"
                     /db_xref="CDD:426568"
     Site            order(51..52,54..56,61..63,65..66,69..70,73..74,76..79,
                     83..84,87..88,91..93,95..96,98..101,120,123..124)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:153421"
     Region          164..226
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     CDS             1..272
                     /gene="ZNF215"
                     /gene_synonym="BAZ-2; BAZ2; ZKSCAN11; ZSCAN43"
                     /coded_by="XM_047427571.1:629..1447"
                     /db_xref="GeneID:7762"
                     /db_xref="HGNC:HGNC:13007"
                     /db_xref="MIM:605016"
ORIGIN      
        1 mqplsklmai skprnlslre qrevlradms wqqetnpvve thdseasrqk frhfqylkvs
       61 gphealsqlw elclqwlrpe ihtkkqiiel lvleqflail peevrtwvnl qhpnnskdmv
      121 tliedvieml ededmpckds alqmgsikek mkagsrtgkp qepvtfkdvv vefskeewgq
      181 ldsavknlyr nvmlenfrnl nslrkahlls kpfeslkles kkkrwimeke iprktifdmk
      241 sisgeesshg vimtrltesg hpssdawkgr th
//
LOCUS       XP_047284449             168 aa            linear   PRI 20-MAR-2023
DEFINITION  syntaxin-2 isoform X8 [Homo sapiens].
ACCESSION   XP_047284449
VERSION     XP_047284449.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428493.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..168
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..168
                     /product="syntaxin-2 isoform X8"
                     /calculated_mol_wt=19334
     Region          29..156
                     /region_name="SynN"
                     /note="Syntaxin N-terminus domain; syntaxins are nervous
                     system-specific proteins implicated in the docking of
                     synaptic vesicles with the presynaptic plasma membrane;
                     they are a family of receptors for intracellular transport
                     vesicles; each target membrane may...; cd00179"
                     /db_xref="CDD:238105"
     Site            order(29,33,40,113..114,117..118,121,124..125,131,134)
                     /site_type="active"
                     /note="nSec1 interaction sites [active]"
                     /db_xref="CDD:238105"
     Site            order(60,71,74..75,82,86,89,96,119,124,127,133,140..141,
                     144..145,147..148,151)
                     /site_type="active"
                     /note="interdomain interaction site [active]"
                     /db_xref="CDD:238105"
     CDS             1..168
                     /gene="STX2"
                     /gene_synonym="EPIM; EPM; STX2A; STX2B; STX2C"
                     /coded_by="XM_047428493.1:152..658"
                     /db_xref="GeneID:2054"
                     /db_xref="HGNC:HGNC:3403"
                     /db_xref="MIM:132350"
ORIGIN      
        1 mrdrlpdlta crknddgdtv vvvekdhfmd dffhqveeir nsidkitqyv eevkknhsii
       61 lsapnpegki keeledlnke ikktankira klkaieqsfd qdesgnrtsv dlrirrtqhs
      121 vlsrkfveam aeyneaqtlf rerskgriqr qleitgfqgr tcaagpvf
//
LOCUS       XP_016877317             468 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of G-protein signaling 6 isoform X12 [Homo sapiens].
ACCESSION   XP_016877317
VERSION     XP_016877317.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017021828.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..468
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..468
                     /product="regulator of G-protein signaling 6 isoform X12"
                     /calculated_mol_wt=54052
     Region          31..119
                     /region_name="DEP_RGS7-like"
                     /note="DEP (Dishevelled, Egl-10, and Pleckstrin) domain
                     found in RGS (regulator of G-protein signaling) proteins
                     of the subfamily R7. This subgroup contains RGS7, RGS6,
                     RGS9 and RGS11. They share a common domain architecture,
                     containing, beside the RGS domain; cd04450"
                     /db_xref="CDD:239897"
     Region          116..217
                     /region_name="RGS_DHEX"
                     /note="Regulator of G-protein signalling DHEX domain;
                     pfam18148"
                     /db_xref="CDD:375589"
     Region          258..319
                     /region_name="GGL"
                     /note="G protein gamma subunit-like motifs; smart00224"
                     /db_xref="CDD:128520"
     Site            order(258,261,265,268,272,277,279,282..283,286..287,290,
                     299..300,309)
                     /site_type="other"
                     /note="beta subunit binding site [polypeptide binding]"
                     /db_xref="CDD:238024"
     Region          328..452
                     /region_name="RGS_RGS6"
                     /note="Regulator of G protein signaling (RGS) domain found
                     in the RGS6 protein; cd08737"
                     /db_xref="CDD:188691"
     Site            order(342,373..377,418..420,423,430,434)
                     /site_type="other"
                     /note="G-beta-5 interaction site"
                     /db_xref="CDD:188691"
     Site            order(357..359,361..362,395..397,399..401,403..405,428,
                     431..432,434..436,440)
                     /site_type="other"
                     /note="G-alpha interaction site"
                     /db_xref="CDD:188691"
     CDS             1..468
                     /gene="RGS6"
                     /gene_synonym="GAP; HA117; S914"
                     /coded_by="XM_017021828.3:534..1940"
                     /db_xref="GeneID:9628"
                     /db_xref="HGNC:HGNC:10002"
                     /db_xref="MIM:603894"
ORIGIN      
        1 maqgsgdqra vgvadpeess pnmivyckie diitkmqddk tggvpirtvk sflskipsvv
       61 tgtdivqwlm knlsiedpve aihlgsliaa qgyifpisdh vltmkddgtf yrfqapyfwp
      121 sncwepentd yaiylckrtm qnkarlelad yeaenlarlq rafarkwefi fmqaeaqvki
      181 drkkdkterk ildsqerafw dvhrpvpgcv nttemdirkc rrlknpqkvk ksvygvtees
      241 qaqspvhvls qpirkttked irkqitflna qidrhclkms kvaesliayt eqyveydpli
      301 tpaepsnpwi sddvalwdie mskepsqqrv krwgfsfdei lkdqvgrdqf lrflesefss
      361 enlrfwlavq dlkkqplqdv akrveeiwqe flapgapsai nldshsyeit sqnvkdggry
      421 tfedaqehiy klmksdsyar flrsnayqdl llakkkgrvh riqvikgm
//
LOCUS       XP_047290476             616 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium/hydrogen exchanger 5 isoform X2 [Homo sapiens].
ACCESSION   XP_047290476
VERSION     XP_047290476.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434520.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..616
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..616
                     /product="sodium/hydrogen exchanger 5 isoform X2"
                     /calculated_mol_wt=67983
     Region          41..573
                     /region_name="b_cpa1"
                     /note="sodium/hydrogen exchanger 3; TIGR00840"
                     /db_xref="CDD:273294"
     CDS             1..616
                     /gene="SLC9A5"
                     /gene_synonym="NHE5"
                     /coded_by="XM_047434520.1:37..1887"
                     /db_xref="GeneID:6553"
                     /db_xref="HGNC:HGNC:11078"
                     /db_xref="MIM:600477"
ORIGIN      
        1 mlraalslla lplagaaeep tqkpespgep ppglelfrwq wheveapylv alwilvasla
       61 kivfhlsrkv tslvpescll illglvlggi vlavakkaey qlepgtfflf llppivldsg
      121 yfmpsrlffd nlgailtyav vgtlwnaftt gaalwglqqa glvaprvqag lldfllfgsl
      181 isavdpvavl avfeevhvne tlfiivfges llndavtvvl ykvcnsfvem gsanvqatdy
      241 lkgvaslfvv slggaavglv fafllalttr ftkrvriiep llvfllayaa yltaemasls
      301 ailavtmcgl gckkyveani shksrttvky tmktlascae tvifmllgis avdsskwawd
      361 sglvlgtlif ilffralgvv lqtwvlnqfr lvpldkidqv vmsygglrga vafalvilld
      421 rtkvpakdyf vattivvvff tvivqgltik plvkwlkvkr sehhkptlnq elhehtfdhi
      481 laavedvvgh hgyhywrdrw eqfdkkylsq llmrrsayri rdqiwdvyyr lnirdaisfv
      541 dqgghvlsst gltlpsmpsr nsvaetsvtn llresgsgac ldlqvidtvr sgrdredavm
      601 hhllcgglyk prrrll
//
LOCUS       XP_047291936            1023 aa            linear   PRI 20-MAR-2023
DEFINITION  LLGL scribble cell polarity complex component 2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047291936
VERSION     XP_047291936.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435980.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1023
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1023
                     /product="LLGL scribble cell polarity complex component 2
                     isoform X2"
                     /calculated_mol_wt=113728
     Region          36..72
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <40..262
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          77..111
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          116..157
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          191..228
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          236..273
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          271..371
                     /region_name="LLGL"
                     /note="LLGL2; pfam08366"
                     /db_xref="CDD:429948"
     CDS             1..1023
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /coded_by="XM_047435980.1:160..3231"
                     /db_xref="GeneID:3993"
                     /db_xref="HGNC:HGNC:6629"
                     /db_xref="MIM:618483"
ORIGIN      
        1 mrrflrpghd pvrerlkrdl fqfnktvehg fphqpsalgy spslrilaig trsgaiklyg
       61 apgvefmglh qennavtqih llpgqcqlvt llddnslhlw slkvkggase lqedesftlr
      121 gppgaapsat qitvvlphss cellylgtes gnvfvvqlpa fraledrtis sdavlqrlpe
      181 earhrrvfem vealqehprd pnqiligysr glvviwdlqg srvlyhflss qqleniwwqr
      241 dgrllvschs dgsycqwpvs seaqqpeplr slvpygpfpc kaitrilwlt trqglpftif
      301 qggmprasyg drhcisvihd gqqtafdfts rvigftvlte adpaatfddp yalvvlaeee
      361 lvvidlqtag wppvqlpyla slhcsaitcs hhvsniplkl weriiaagsr qnahfstmew
      421 pidggtsltp appqrdlllt ghedgtvrfw dasgvclrll yklstvrvfl tdtdpnenfs
      481 aqgedewppl rkvgsfdpys ddprlgiqki flckysgyla vagtagqvlv lelndeaaeq
      541 aveqveadll qdqegyrwkg herlaarsgp vrfepgfqpf vlvqcqppav vtslalhsew
      601 rlvafgtshg fglfdhqqrr qvfvkctlhp sdqlalegpl srvkslkksl rqsfrrmrrs
      661 rvssrkrhpa gppgevrpea qegsakaerp glqnmelapv qrkiearsae dsftgfvrtl
      721 yfadtylkds srhcpslwag tnggtiyafs lrvppaerrm depvraeqak eiqlmhrapv
      781 vgilvldghs vplpepleva hdlskspdmq gshqllvvse eqfkvftlpk vsaklklklt
      841 alegsrvrrv svahfgsrra edygehhlav ltnlgdiqvv slpllkpqvr yscirredvs
      901 giascvftky gqgfylisps eferfslstk wlveprclvd saetknhrpg ngagpkkaps
      961 rarnsgtqsd geekqpglvm erallsderv lkeiqstleg drgsgnwrsh raavgcslsn
     1021 gge
//
LOCUS       XP_047293185             780 aa            linear   PRI 20-MAR-2023
DEFINITION  cell division cycle protein 27 homolog isoform X2 [Homo sapiens].
ACCESSION   XP_047293185
VERSION     XP_047293185.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437229.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..780
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..780
                     /product="cell division cycle protein 27 homolog isoform
                     X2"
                     /calculated_mol_wt=86797
     Region          17..92
                     /region_name="ANAPC3"
                     /note="Anaphase-promoting complex, cyclosome, subunit 3;
                     pfam12895"
                     /db_xref="CDD:432860"
     Region          507..741
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          507..533
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          573..601
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(574,577..578,581..582,584,608,611..612,615..616,
                     618..619,642,645..646,649..650,653)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          606..636
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          641..669
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          675..702
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          709..737
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..780
                     /gene="CDC27"
                     /gene_synonym="ANAPC3; APC3; CDC27Hs; D0S1430E; D17S978E;
                     H-NUC; HNUC; NUC2"
                     /coded_by="XM_047437229.1:124..2466"
                     /db_xref="GeneID:996"
                     /db_xref="HGNC:HGNC:1728"
                     /db_xref="MIM:116946"
ORIGIN      
        1 mtvlqepvqa aiwqalnhya yrdavflaer lyaevhseea lfllatcyyr sgkaykayrl
       61 lkghscttpq ckyllakccv dlsklaegeq ilsggvfnkq kshddivtef gdsacftlsl
      121 lghvycktdr lakgsecyqk slslnpflws pfeslceige kpdpdqtfkf tslqnfsncl
      181 pnscttqvpn hslshrqpet vltetpqdti elnrlnless nskyslntds svsyidsavi
      241 spdtvplgtg tsilskqvqn kpktgrsllg gpaalspltp sfgilpletp spgdgsylqn
      301 ytntppvidv pstgapskkt frvlqsvari gqtgtksvfs qsgnsrevtp ilaqtqssgp
      361 qtsttpqvls ptitsppnal prrssrlfts dssttkensk klkmkfppki pnrktksktn
      421 kggitqpnin dsleitklds siisegkist itpqiqafnl qkaaaeglms llremgkgyl
      481 alcsynckea inilshlpsh hyntgwvlcq igrayfelse ymqaerifse vrrienyrve
      541 gmeiysttlw hlqkdvalsv lskdltdmdk nspeawcaag ncfslqrehd iaikffqrai
      601 qvdpnyayay tllghefvlt eeldkalacf rnairvnprh ynawyglgmi yykqekfsla
      661 emhfqkaldi npqssvllch igvvqhalkk sekaldtlnk aividpknpl ckfhrasvlf
      721 anekyksalq eleelkqivp keslvyflig kccclflglq evrsnaprpd efllgygfrs
//
LOCUS       XP_016881108             896 aa            linear   PRI 20-MAR-2023
DEFINITION  band 4.1-like protein 3 isoform X17 [Homo sapiens].
ACCESSION   XP_016881108
VERSION     XP_016881108.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017025619.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..896
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..896
                     /product="band 4.1-like protein 3 isoform X17"
                     /calculated_mol_wt=99807
     Region          112..301
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          296..389
                     /region_name="FERM_C_4_1_family"
                     /note="FERM domain C-lobe of Protein 4.1 family; cd13184"
                     /db_xref="CDD:270005"
     Site            order(305,322,324,330)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270005"
     Site            order(334,339..342,377,381,384..385)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Site            377..388
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Region          398..441
                     /region_name="FA"
                     /note="FERM adjacent (FA); pfam08736"
                     /db_xref="CDD:430180"
     Region          537..584
                     /region_name="SAB"
                     /note="SAB domain; pfam04382"
                     /db_xref="CDD:427911"
     Region          <605..>675
                     /region_name="COG5613"
                     /note="Uncharacterized protein [Function unknown]"
                     /db_xref="CDD:227900"
     Region          817..>896
                     /region_name="4_1_CTD"
                     /note="4.1 protein C-terminal domain (CTD); pfam05902"
                     /db_xref="CDD:428665"
     CDS             1..896
                     /gene="EPB41L3"
                     /gene_synonym="4.1B; DAL-1; DAL1"
                     /coded_by="XM_017025619.2:12..2702"
                     /db_xref="GeneID:23136"
                     /db_xref="HGNC:HGNC:3380"
                     /db_xref="MIM:605331"
ORIGIN      
        1 mttesgsdse skpdqeaepq eaagaqgrag apvpeppkee qqqaleqfaa aaahstpvrr
       61 evtdkeqefa araakqleyq qleddklsqk ssssklsrsp lkivkkpksm qckvilldgs
      121 eytcdvekrs rgqvlfdkvc ehlnllekdy fgltyrdaen qknwldpake ikkqvrsgaw
      181 hfsfnvkfyp pdpaqlsedi tryylclqlr ddivsgrlpc sfvtlallgs ytvqselgdy
      241 dpdecgsdyi sefrfapnht keledkviel hkshrgmtpa eaemhflena kklsmygvdl
      301 hhakdsegve imlgvcasgl liyrdrlrin rfawpkvlki sykrnnfyik irpgefeqfe
      361 stigfklpnh raakrlwkvc vehhtffrll lpeappkkfl tlgskfrysg rtqaqtrras
      421 alidrpapyf erssskrytm srsldgasvn enheiymkds msaaevgtgq yattkgisqt
      481 nlittvtpek kaeeerdeee dkrrkgeevt pisairhegk tdsertdtaa dgettateel
      541 ektqddlmkh qtniselkrt fletstdtav tnewekrlst spvrlaarqe dapmieplvp
      601 eetkeeteis ekviflqqgs apflesqtkq ssgeklmdgs eifsllesar kptefiggvt
      661 stsqswvqkm etktessgie teptvhhlpl stekvvqetv lveerrvvha sgdasysagd
      721 sgdaaaqpaf tgikgkegsa ltegakeegg eevakavleq eetaaasrer qeeqsaaihi
      781 setleqkphf esstvkteti sfgsvspggv kleistkevp vvhtetktit yessqvdpgt
      841 dlepgvlmsa qtitsettst tttthitktv kggisetrie krivitgdad idhdqe
//
LOCUS       XP_047293404             897 aa            linear   PRI 20-MAR-2023
DEFINITION  GPI ethanolamine phosphate transferase 1 isoform X7 [Homo sapiens].
ACCESSION   XP_047293404
VERSION     XP_047293404.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437448.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..897
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..897
                     /product="GPI ethanolamine phosphate transferase 1 isoform
                     X7"
                     /calculated_mol_wt=101869
     Region          40..345
                     /region_name="GPI_EPT_1"
                     /note="GPI ethanolamine phosphate transferase 1; PIG-N;
                     cd16020"
                     /db_xref="CDD:293744"
     Site            order(52..53,94,214,262..263)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:293744"
     Site            order(52,94,214,263)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:293744"
     Region          430..884
                     /region_name="PigN"
                     /note="Phosphatidylinositolglycan class N (PIG-N);
                     pfam04987"
                     /db_xref="CDD:428239"
     CDS             1..897
                     /gene="PIGN"
                     /gene_synonym="MCAHS; MCAHS1; MCD4; MDC4; PIG-N"
                     /coded_by="XM_047437448.1:323..3016"
                     /db_xref="GeneID:23556"
                     /db_xref="HGNC:HGNC:8967"
                     /db_xref="MIM:606097"
ORIGIN      
        1 mllfftlgll ihfvffasif diyftsplvh gmtpqftplp pparrlvlfv adglradaly
       61 eldengnsra pfirniimhe gswgishtrv ptesrpghva liagfyedvs avakgwkenp
      121 vefdslfnes kytwswgspd ilpmfakgas gdhvytysyd akredfgaqd atkldtwvfd
      181 nvkdffhhar nnqslfskin eekivfflhl lgidtnghah rpssrdykhn ikkvddgvke
      241 ivsmfnhfyg ndgkttfift sdhgmtdwgs hgaghpsetl tplvtwgagi kypqrvsaqq
      301 fddaflkewr lenwkrldvn qadiaplmts ligvpfplns vgilpvdyln ntdlfkaesm
      361 ftnavqileq fkvkmtqkke vtlpflftpf kllsdskqfn ilrkarsyik hrkfdevvsl
      421 ckelihlalk glsyyhtydr fflgvnvvig fvgwisyasl liikshsnli kgvskevkkp
      481 shllpcsfva igilvaffll iqacpwtyyv ygllplpiwy avlrefqviq dlvvsvltyp
      541 lshfvgylla ftlgievlvl sffyrymlta gltafaawpf ltrlwtrakm tslswtffsl
      601 llavfplmpv vgrkpdislv mgagllvlll slcvvtslmk rkdsfikeel lvhllqvlst
      661 vlsmyvvyst qssllrkqgl plmnqiiswa tlasslvvpl lsspvlfqrl fsillslmst
      721 ylllstgyea lfplvlsclm fvwinieqet lqqsgvcckq kltsiqfsyn tditqfrqly
      781 lddirraffl vfflvtaffg tgniasinsf dlasvycflt vfspfmmgal mmwkilipfv
      841 lvmcafeavq lttqlssksl flivlvisdi malhffflvk dygswldigt rklpsek
//
LOCUS       XP_047300699             121 aa            linear   PRI 20-MAR-2023
DEFINITION  protein yippee-like 5 isoform X1 [Homo sapiens].
ACCESSION   XP_047300699
VERSION     XP_047300699.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444743.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..121
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..121
                     /product="protein yippee-like 5 isoform X1"
                     /calculated_mol_wt=13711
     Region          14..107
                     /region_name="RLR_C_like"
                     /note="C-terminal domain of Retinoic acid-inducible gene
                     (RIG)-I-like Receptors, Cereblon (CRBN), and similar
                     protein domains; cl13152"
                     /db_xref="CDD:448830"
     CDS             1..121
                     /gene="YPEL5"
                     /gene_synonym="CGI-127"
                     /coded_by="XM_047444743.1:1281..1646"
                     /db_xref="GeneID:51646"
                     /db_xref="HGNC:HGNC:18329"
                     /db_xref="MIM:609726"
ORIGIN      
        1 mgrifldhig gtrlfscanc dtiltnrsel istrftgatg raflfnkvvn lqysevqdrv
       61 mltgrhmvrd vsckncnskl gwiyefated sqrykegrvi leralvrese gfeehvpsdn
      121 s
//
LOCUS       XP_016860222             675 aa            linear   PRI 20-MAR-2023
DEFINITION  POTE ankyrin domain family member I isoform X3 [Homo sapiens].
ACCESSION   XP_016860222
VERSION     XP_016860222.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004733.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..675
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..675
                     /product="POTE ankyrin domain family member I isoform X3"
                     /calculated_mol_wt=76563
     Region          248..>301
                     /region_name="CCDC144C"
                     /note="CCDC144C protein coiled-coil region; pfam14915"
                     /db_xref="CDD:434310"
     Region          301..675
                     /region_name="NBD_sugar-kinase_HSP70_actin"
                     /note="Nucleotide-Binding Domain of the sugar
                     kinase/HSP70/actin superfamily; cl17037"
                     /db_xref="CDD:450142"
     Site            order(311..314,316,318,437,454..457)
                     /site_type="other"
                     /note="nucleotide binding site [chemical binding]"
                     /db_xref="CDD:212657"
     CDS             1..675
                     /gene="POTEI"
                     /gene_synonym="POTE2beta"
                     /coded_by="XM_017004733.2:98..2125"
                     /db_xref="GeneID:653269"
                     /db_xref="HGNC:HGNC:37093"
ORIGIN      
        1 msqepeinkd gdreveeemk khesnnvgll enlsngvtag ngddglipqr ksrtpenqqf
       61 pdneseeyhr icelvsdyke kqmpkyssen snpeqdlklt seeesqrlkg sengqpekrs
      121 qepeinkdgd relenfmaie emkkhgsthv gfpenltnga tagngddgli pprksrtpes
      181 qqfpdtenee yhsdeqndtq kqfceeqntg ilhdeilihe ekqievvekm nselslsckk
      241 ekdflhenst lreeiamlrl eldtmkhqsq lrkkkyledi esvkkkndnl lkalqlnelt
      301 mdddtavlvi dngsgmckag fagddaprav fpsivgrprq qgmmggmhqk esyvgkeaqs
      361 krgiltlkyp mehgiitnwd dmekiwhhtf ynelrvapee hpillteapl npkanrekmt
      421 qimfetfntp amyvaiqaml slytsgrttg ivmdsgdgvt htvpiydgna lphatlrldl
      481 agreltdylm kiltergyrf ttmaereivr dikeklcyva ldfeqemama assssleksy
      541 elpdgqviti gnewfrcpea lfqpcflgme scgihettfn simksdvdir kdlytntvls
      601 ggttmypgma hrmqkeiaal apsmlkirii appkrkysvw vggsilasls tfqqmwiskq
      661 eydesgpsiv hrkcf
//
LOCUS       XP_047301575             304 aa            linear   PRI 20-MAR-2023
DEFINITION  tissue factor pathway inhibitor isoform X1 [Homo sapiens].
ACCESSION   XP_047301575
VERSION     XP_047301575.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445619.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..304
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..304
                     /product="tissue factor pathway inhibitor isoform X1"
                     /calculated_mol_wt=34884
     Region          51..105
                     /region_name="Kunitz_TFPI1_1-like"
                     /note="Kunitz protease inhibitor (KPI) domain 1 (KPI-1 or
                     K1) of tissue factor pathway inhibitor (TFPI); cd22613"
                     /db_xref="CDD:438656"
     Site            order(52..53,63,65,67,69,84..91,93..96,99,102..103)
                     /site_type="other"
                     /note="antibody binding site [polypeptide binding]"
                     /db_xref="CDD:438656"
     Site            order(60..69,83..88,93)
                     /site_type="other"
                     /note="serine protease binding site [polypeptide binding]"
                     /db_xref="CDD:438656"
     Region          121..176
                     /region_name="Kunitz_TFPI1_2-like"
                     /note="Kunitz protease inhibitor (KPI) domain 2 (KPI-2 or
                     K2) of tissue factor pathway inhibitor (TFPI); cd22614"
                     /db_xref="CDD:438657"
     Site            order(133..137,156,158..159)
                     /site_type="other"
                     /note="serine protease binding site [polypeptide binding]"
                     /db_xref="CDD:438657"
     Region          214..267
                     /region_name="Kunitz_TFPI1_TFPI2_3-like"
                     /note="Kunitz protease inhibitor (KPI) domain 3 (KPI-3 or
                     K3) of tissue factor pathway inhibitor (TFPI) and TFPI2,
                     and similar proteins; cd22615"
                     /db_xref="CDD:438658"
     CDS             1..304
                     /gene="TFPI"
                     /gene_synonym="EPI; LACI; TFI; TFPI1"
                     /coded_by="XM_047445619.1:469..1383"
                     /db_xref="GeneID:7035"
                     /db_xref="HGNC:HGNC:11760"
                     /db_xref="MIM:152310"
ORIGIN      
        1 miytmkkvha lwasvcllln lapaplnads eedeehtiit dtelpplklm hsfcafkadd
       61 gpckaimkrf ffniftrqce efiyggcegn qnrfesleec kkmctrdnan riikttlqqe
      121 kpdfcfleed pgicrgyitr yfynnqtkqc erfkyggclg nmnnfetlee cknicedgpn
      181 gfqvdnygtq lnavnnsltp qstkvpslfe fhgpswcltp adrglcrane nrfyynsvig
      241 kcrpfkysgc ggnennftsk qeclrackkg fiqriskggl iktkrkrkkq rvkiayeeif
      301 vknm
//
LOCUS       XP_047296256             852 aa            linear   PRI 20-MAR-2023
DEFINITION  extracellular sulfatase Sulf-2 isoform X4 [Homo sapiens].
ACCESSION   XP_047296256
VERSION     XP_047296256.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440300.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..852
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..852
                     /product="extracellular sulfatase Sulf-2 isoform X4"
                     /calculated_mol_wt=98052
     Region          43..385
                     /region_name="G6S"
                     /note="glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND
                     sulfatase 1(SULF1); cd16147"
                     /db_xref="CDD:293766"
     Site            order(52..53,88,143,145,226,317..318)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:293766"
     Site            order(52..53,88,143,145,226,318)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:293766"
     Region          529..664
                     /region_name="DUF3740"
                     /note="Sulfatase protein; pfam12548"
                     /db_xref="CDD:432627"
     Region          <749..798
                     /region_name="ALP_like"
                     /note="alkaline phosphatases and sulfatases; cl23718"
                     /db_xref="CDD:451502"
     CDS             1..852
                     /gene="SULF2"
                     /gene_synonym="HSULF-2"
                     /coded_by="XM_047440300.1:363..2921"
                     /db_xref="GeneID:55959"
                     /db_xref="HGNC:HGNC:20392"
                     /db_xref="MIM:610013"
ORIGIN      
        1 mgppslvlcl lsatvfsllg gssaflshhr lkgrfqrdrr nirpniilvl tddqdvelgs
       61 mqvmnktrri meqggahfin afvttpmccp srssiltgky vhnhntytnn encsspswqa
      121 qhesrtfavy lnstgyrtaf fgkylneyng syvppgwkew vgllknsrfy nytlcrngvk
      181 ekhgsdyskd yltdlitnds vsffrtskkm yphrpvlmvi shaaphgped sapqysrlfp
      241 nasqhitpsy nyapnpdkhw imrytgpmkp ihmeftnmlq rkrlqtlmsv ddsmetiynm
      301 lvetgeldnt yivytadhgy higqfglvkg ksmpyefdir vpfyvrgpnv eagclnphiv
      361 lnidlaptil diagldipad mdgksilkll dterpvnrfh lkkkmrvwrd sflvergkll
      421 hkrdndkvda qeenflpkyq rvkdlcqrae yqtaceqlgq kwqcvedatg klklhkckgp
      481 mrlggsrals nlvpkyygqg seactcdsgd yklslagrrk klfkkkykas yvrsrsirsv
      541 aievdgrvyh vglgdaaqpr nltkrhwpga pedqddkdgg dfsgtgglpd ysaanpikvt
      601 hrcyilendt vqcdldlyks lqawkdhklh idheietlqn kiknlrevrg hlkkkrpeec
      661 dchkisyhtq hkgrlkhrgs slhpfrkglq ekdkvwllre qkrkkklrkl lkrlqnndtc
      721 smpgltcfth dnqhwqtapf wtlgpfcact sannntywcm rtinethnfl fcefatgfle
      781 yfdlntdpyq lmnavntldr dvlnqlhvql melrsckgyk qcnprtrnmd lglkdggsye
      841 qyrgqlwegw eg
//
LOCUS       XP_016883758             340 aa            linear   PRI 20-MAR-2023
DEFINITION  heat shock factor 2-binding protein isoform X4 [Homo sapiens].
ACCESSION   XP_016883758
VERSION     XP_016883758.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017028269.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..340
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..340
                     /product="heat shock factor 2-binding protein isoform X4"
                     /calculated_mol_wt=38241
     Region          17..>118
                     /region_name="PRK12704"
                     /note="phosphodiesterase; Provisional"
                     /db_xref="CDD:237177"
     CDS             1..340
                     /gene="HSF2BP"
                     /gene_synonym="MEILB2; POF19"
                     /coded_by="XM_017028269.2:328..1350"
                     /db_xref="GeneID:11077"
                     /db_xref="HGNC:HGNC:5226"
                     /db_xref="MIM:604554"
ORIGIN      
        1 mgeagaaeea crhmgtkeef vkvrkkdler lttevmqird flprilngev lesfqklkiv
       61 eknlerkeqe leqlkmdceh fkarletvqa dnirekkekl alrqqlneak qqllqqaeyc
      121 temgaaactl lwgvssseev vkailggvsm dkalkffsit gqtmesfvks ldgdvqelds
      181 desqfvfala givtnvaaia cgreflvnss rvlldtilql lgdlkpgqct klkvlmlmsl
      241 ynvsinlkgl kyisespgfi pllwwllsdp daevclhvlr lvqsvvlepe vfsksasefr
      301 sslplqrila msksrnprlq taaqelledl rtlehnvrrp
//
LOCUS       XP_047297055             228 aa            linear   PRI 20-MAR-2023
DEFINITION  rab-like protein 2B isoform X6 [Homo sapiens].
ACCESSION   XP_047297055
VERSION     XP_047297055.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441099.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..228
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..228
                     /product="rab-like protein 2B isoform X6"
                     /calculated_mol_wt=25970
     Region          22..181
                     /region_name="RabL2"
                     /note="Rab GTPase-like family 2 (Rab-like2); cd04124"
                     /db_xref="CDD:133324"
     Site            22..23
                     /site_type="other"
                     /note="Rab subfamily motif 1 (RabSF1)"
                     /db_xref="CDD:133324"
     Site            28..35
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:133324"
     Site            order(30..36,46,52..53,79,133..134,136,159..161)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:133324"
     Site            order(36..46,51..52)
                     /site_type="other"
                     /note="Rab subfamily motif 2 (RabSF2)"
                     /db_xref="CDD:133324"
     Site            order(46,51..59)
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:133324"
     Site            order(51,55..62,69,71)
                     /site_type="other"
                     /note="putative GEF interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:133324"
     Site            53
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:133324"
     Site            order(54,56..58,73,75,82..83,86,90,92..95)
                     /site_type="active"
                     /note="putative effector interaction site [active]"
                     /db_xref="CDD:133324"
     Site            order(54..55,57,75..76,83,85,87..89)
                     /site_type="other"
                     /note="putative GDI interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:133324"
     Site            54..58
                     /site_type="other"
                     /note="Rab family motif 1 (RabF1)"
                     /db_xref="CDD:133324"
     Site            71..75
                     /site_type="other"
                     /note="Rab family motif 2 (RabF2)"
                     /db_xref="CDD:133324"
     Site            76..79
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:133324"
     Site            order(79,81..91)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:133324"
     Site            82..87
                     /site_type="other"
                     /note="Rab family motif 3 (RabF3)"
                     /db_xref="CDD:133324"
     Site            90..94
                     /site_type="other"
                     /note="Rab family motif 4 (RabF4)"
                     /db_xref="CDD:133324"
     Site            99..104
                     /site_type="other"
                     /note="Rab family motif 5 (RabF5)"
                     /db_xref="CDD:133324"
     Site            122..130
                     /site_type="other"
                     /note="Rab subfamily motif 3 (RabSF3)"
                     /db_xref="CDD:133324"
     Site            133..136
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:133324"
     Site            159..161
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:133324"
     Site            175..181
                     /site_type="other"
                     /note="Rab subfamily motif 4 (RabSF4)"
                     /db_xref="CDD:133324"
     CDS             1..228
                     /gene="RABL2B"
                     /coded_by="XM_047441099.1:552..1238"
                     /db_xref="GeneID:11158"
                     /db_xref="HGNC:HGNC:9800"
                     /db_xref="MIM:605413"
ORIGIN      
        1 maedktkpse ldqgkydadd nvkiiclgds avgksklmer flmdgfqpqq lstyaltlyk
       61 htatvdgrti lvdfwdtagq erfqsmhasy yhkahacimv fdvqrkvtyr nlstwytelr
      121 efrpeipciv vankiddinv tqksfnfakk fslplyfvsa adgtnvvklf ndairlavsy
      181 kqnsqdfmde ifqelenfsl eqeeedvpdq eqsssietps eeaasphs
//
LOCUS       XP_047297567             327 aa            linear   PRI 20-MAR-2023
DEFINITION  PRKCA-binding protein isoform X2 [Homo sapiens].
ACCESSION   XP_047297567
VERSION     XP_047297567.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441611.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..327
                     /product="PRKCA-binding protein isoform X2"
                     /calculated_mol_wt=37260
     Region          58..272
                     /region_name="BAR_PICK1"
                     /note="The Bin/Amphiphysin/Rvs (BAR) domain of Protein
                     Interacting with C Kinase 1; cd07659"
                     /db_xref="CDD:153343"
     Site            order(74..75,81,85,88,91..92,95,98..99,103,105..106,109,
                     112..113,118..119,121..122,125,129,238,242..243,246..247,
                     249..250,257..258,260..261)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153343"
     Site            order(80,83,86..87,90..91,93..95,97..98,134,137,141,
                     144..145)
                     /site_type="active"
                     /note="putative Rac binding site [active]"
                     /db_xref="CDD:153343"
     CDS             1..327
                     /gene="PICK1"
                     /gene_synonym="PICK; PRKCABP"
                     /coded_by="XM_047441611.1:185..1168"
                     /db_xref="GeneID:9463"
                     /db_xref="HGNC:HGNC:9394"
                     /db_xref="MIM:605926"
ORIGIN      
        1 miqevkgevt ihynklqadp kqgmsldivl kkvkhrlven mssgtadalg lsrailcndg
       61 lvkrleeler taelykgmte htknllrafy elsqthrafg dvfsvigvre pqpaaseafv
      121 kfadahrsie kfgirllkti kpmltdlnty lnkaipdtrl tikkyldvkf eylsyclkvk
      181 emddeeysci algeplyrvs tgnyeyrlil rcrqeararf sqmrkdvlek melldqkhvq
      241 divfqlqrlv stmskyyndc yavlrdadvf pievdlahtt layglnqeef tdgeeeeeee
      301 dtaagepsrd trgaagpldk ggswcds
//
LOCUS       XP_047305143            1049 aa            linear   PRI 20-MAR-2023
DEFINITION  brother of CDO isoform X11 [Homo sapiens].
ACCESSION   XP_047305143
VERSION     XP_047305143.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449187.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1049
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1049
                     /product="brother of CDO isoform X11"
                     /calculated_mol_wt=114727
     Region          26..101
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          43..47
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          57..61
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          80..84
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          94..99
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          136..203
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          145..149
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          158..162
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          173..183
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          193..198
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          220..303
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          237..241
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          250..254
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          271..275
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          285..290
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          298..301
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          311..373
                     /region_name="ISET-FN3_linker"
                     /note="Unstructured linking region I-set and fnIII on
                     Brother of CDO; pfam16625"
                     /db_xref="CDD:435475"
     Region          386..460
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          507..598
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(507,574,589)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(590..591,593..594)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          613..710
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(613,683,698)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(699..700,702..703)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..1049
                     /gene="BOC"
                     /gene_synonym="Boi; CDON2"
                     /coded_by="XM_047449187.1:162..3311"
                     /db_xref="GeneID:91653"
                     /db_xref="HGNC:HGNC:17173"
                     /db_xref="MIM:608708"
ORIGIN      
        1 mthevlstfi psegssskve evdlqdfkld vqhvievdeg ntaviachlp eshpkaqvry
       61 svkqewleas rgnylimpsg nlqivnasqe degmykcaay npvtqevkts gssdrlrvrr
      121 staeaariiy ppeaqtiivt kgqslilecv asgippprvt wakdgssvtg ynktrfllsn
      181 llidttseed sgtyrcmadn gvgqpgaavi lynvqvfepp evtmelsqlv ipwgqsaklt
      241 cevrgnppps vlwlrnavpl issqrlrlsr ralrvlsmgp edegvyqcma enevgsahav
      301 vqlrtsrpsp pgitprlwqd aelatgtppv spsklgnpeq mlrgqpalpr pptsvgpasp
      361 qcpgekgqga paeapiilss prtsktdsye lvwrprhegs grapilyyvv khrkqvtnss
      421 ddwtisgipa nqhrltltrl dpgslyevem aayncagegq tamvtfrtgr rpkpeimask
      481 eqqiqrddpg aspqsssqpd hgrlsppeap drptistase tsvyvtwipr gnggfpiqsf
      541 rveykklkkv gdwilatsai ppsrlsveit glekgtsykf rvralnmlge sepsapsrpy
      601 vvsgysgrvy erpvagpyit ftdavnetti mlkwmyipas nnntpihgfy iyyrptdsdn
      661 dsdykkdmve gdkywhsish lqpetsydik mqcfnegges efsnvmicet karkssgqpg
      721 rlppptlapp qpplpetier pvgtgamvar ssdlpylivg vvlgsivlii vtfipfclwr
      781 awskqkhttd lgfprsalpp scpytmvplg glpghqasgq pylsgisgra cangihmnrg
      841 cpsaavgypg mkpqqhcpge lqqaffsqeq mllllsedwk vtwtprrgrl itlpfeqqsd
      901 tssllrqthl gngydpqshq itrgpksspd egsflytlpd dsthqllqph hdccqrqeqp
      961 aavgqsgvrr apdspvleav wdppfhsgpp cclglvpvee vdspdscqvs ggdwcpqhpv
     1021 gayvgqepgm qlspgplvrv sfetpplti
//
LOCUS       XP_016864633            3020 aa            linear   PRI 20-MAR-2023
DEFINITION  dmX-like protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_016864633
VERSION     XP_016864633.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009144.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3020
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..3020
                     /product="dmX-like protein 1 isoform X4"
                     /calculated_mol_wt=337179
     Region          48..82
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          96..152
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          168..201
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1076..1809
                     /region_name="Rav1p_C"
                     /note="RAVE protein 1 C terminal; pfam12234"
                     /db_xref="CDD:432413"
     Region          2740..2997
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          2784..2829
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          2834..2876
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          2883..2918
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          2924..2960
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..3020
                     /gene="DMXL1"
                     /coded_by="XM_017009144.2:283..9345"
                     /db_xref="GeneID:1657"
                     /db_xref="HGNC:HGNC:2937"
                     /db_xref="MIM:605671"
ORIGIN      
        1 mqqgkiaasy gnvisifepv nlpkqkknle lysqwqksgq fflesiahni twdptgsrll
       61 tgssylqlws ntnlekpted enlnktdlnf gdwkciwhck tasqvhlmkf spdgeffata
      121 gkddcllkvw ynvenwrtav tspdgssekq sqgeidfsfv ylahpravng fswrktskym
      181 prasvcnvll tcckdnvcrl wvetflpndc llyggdcshw tesinltnnf krnasskerv
      241 qnalevnlrh frrgrrrsla lvahtgylph qqdphhvhrn tplhanalch fhiaasinpa
      301 tdipllpsit slslneneek tgpfvvhwln nkelhftlsm evflqqlrks feqpsseasv
      361 edsnqadvks deetddgvdd lkinpekkel gcdkmvpnss ftslssaaid hqievllsew
      421 sknadmlfsi hpmdgsllvw hvdwldeyqp gmfrqvqvsf vsripvafpt gdanslcksi
      481 mmyactknvd laiqqgkqkp sgltrstsml issghnkssn slklsiftpn vmmiskhadg
      541 slnqwlvsfa eesafstvls ishksrycgh rfhlndlach svlpllltts hhnalrtpdv
      601 dnpeqpfdal nieecsltqq nkstvdvafq dpsavyseli lwrvdpvgpl sfsggvsela
      661 rinslhvsaf snvawlptli psyclgaycn spsacfvasd gqylrlyeav idakkllsel
      721 snpeiskyvg evfnivsqqs tarpgciial dpitklhgrk tqllhvfeed filnnlekks
      781 lgkdsilsna gsspngfsek fyliviectq dnrsllhmwn lhlksipvsl dekvdtklse
      841 avwqpeehys sspekilspf sqkyqacran lqstsrltlf semvysqelh lpegveiisi
      901 kpsaghlsss siypacsapy llatscsdek vrfwrcrvtd gesatskngk idlayiweew
      961 plliedglqs nssitvpgrp vevscahtnr lavaykqpas nsrssqdfvm hvsifecest
     1021 ggscwvleqt ihldelstvl dsgisvdsnl vaynkqdmyl sskenitsnt khlvhldwms
     1081 redgshiltv gigsklfmyg plagkvqdqt gketlafplw estkvvplsk fvllrsvdlv
     1141 ssvdgsppfp vslswvrdgi lvvgmdcemh vycqwqpssk qepvitdsys gstpsitsli
     1201 kqsnsssglh ppkktltrsm tslaqkicgk ktafdpsvdm edsglfeaah vlsptlpqyh
     1261 plqllelmdl gkvrrakail shlvkciage vvalneaesn herrlrslti sasgsttrdp
     1321 qafnkaentd yteidsvppl plyallaadd dscyssleks snestlsksn qlskesydel
     1381 fqtqllmtdt hmletdeent kprvidlsqy sptyfgpeha qvlsghllhs slpglsrmeq
     1441 mslmaladti attstdiges rdrsqggetl decglkflla vrlhtfltts lpayraqllh
     1501 qglstshfaw afhsvaeeel lnmlpamqkd dptwselram gvgwwvrntr ilrkciekva
     1561 kaafyrkndp ldaaifylam kkkaviwgly raekntrmtq ffghnfeder wrkaalknaf
     1621 sllgkqrfeh saaffllagc lrdaievcle klndiqlalv iarlyesefd tsaayksilr
     1681 kkvlgidspv selcslninm hhdpflrsma ywiledysga letlikqpir enddqvlsas
     1741 nptvfnfyny lrthplllrr hfgssdtfst hmsltgksgl agtinlserr lffttasahl
     1801 kagcpmlale vlskmpkvik ktrpfyrass fldtskdcsp ssplkldare dkssavdwsq
     1861 slingfgsss egssekqsns tlsfdwsqps vvfqddslel kwdsdndeen edvpismkel
     1921 kplqrktdkk lddissnyte sfstldendl lnpsediiav qlkfraclki ltvelrtlst
     1981 gyeidggklr yqlyhwleke vialqrtcdf csdaeelqsa fgrnedefgl nedaedlphq
     2041 tkvkqlrenf qekrqwllky qsllrmflsy cilhgshggg lasvrmelil llqesqqets
     2101 eplfssplse qtsvpllfac tanaktvvan pllhlsnlth dilhaiinfd spphpdiqsn
     2161 kvyvmhtlaa slsaciyqcl cgshnyssfq tnqftgmvyq tvllphrpsl ktgsldealt
     2221 pntspaqwpg itclirllns sgeeaqsglt vllceiltav ylslfihgla thssnelfri
     2281 vahplnekmw savfgggahv pskeqthskt lpgrhfamps phqvvvfsme cvgfskalsa
     2341 isshsppsla vsslveegek qnkrfrpskm scresapltp ssapvsqesl avkekfippe
     2401 lsiwdyfiak pflpssqsra eydseeslgs ddddnddddd vlasdfhlqe hsnsnsysws
     2461 lmrlamvqlv lnnlktfypf aghdlaelpv ssplchavlk tlqcweqvll rrleihggpp
     2521 qnyiashtae eslsagpail rhkalleptn tpfkskhhla lsvkrlwqyl vkqeeiqetf
     2581 ikniftkkrc lneslednse tiknsmmeep ninkieadlg ypggkariih kesdiitafa
     2641 vnkanrncia iasshdvqel dvsgilatqv ytwvdddiev etkgsedflv iharddltav
     2701 qgttpythsn pgtpinmpwl gstqtgrgas vmikkainnv rrmtshptlp yyltgaqdgs
     2761 vrmfewghsq qitcfrsggn srvtrmrfny qgnkfgivda dgylslyqtn wkccpvtgsm
     2821 pkpyltwqch nktandfvfv ssssliatag lstdnrnvcl wdtlvapans lvhaftchds
     2881 gatvlayapk hqllisggrk gftyvfdlcq rqqrqlfqsh dspvkavavd pteeyfvtgs
     2941 aegnikiwsl stfgllhtfv seharqsifr nigtgvmqie tgpanhifsc gadgtmkmri
     3001 lpdqfsplne vlkndvkfml
//
LOCUS       XP_011541791            1713 aa            linear   PRI 20-MAR-2023
DEFINITION  lysine-specific demethylase 3B isoform X2 [Homo sapiens].
ACCESSION   XP_011541791
VERSION     XP_011541791.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011543489.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1713
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..1713
                     /product="lysine-specific demethylase 3B isoform X2"
                     /calculated_mol_wt=187188
     Region          623..>709
                     /region_name="PRK11901"
                     /note="hypothetical protein; Reviewed"
                     /db_xref="CDD:237015"
     Region          1454..1526
                     /region_name="JmjC"
                     /note="A domain family that is part of the cupin
                     metalloenzyme superfamily; smart00558"
                     /db_xref="CDD:214721"
     Region          1551..1656
                     /region_name="cupin_RmlC-like"
                     /note="RmlC-like cupin superfamily; cl40423"
                     /db_xref="CDD:454753"
     CDS             1..1713
                     /gene="KDM3B"
                     /gene_synonym="5qNCA; C5orf7; DIJOS; JMJD1B; NET22"
                     /coded_by="XM_011543489.3:2238..7379"
                     /db_xref="GeneID:51780"
                     /db_xref="HGNC:HGNC:1337"
                     /db_xref="MIM:609373"
ORIGIN      
        1 mkpflensnk akcylkifve fdgcnwkqhs wvkvhaeevi vlllegslvw apredpvllq
       61 girvsiaqwp altftplvdk lglgsvvpve ylldrelrfl sdanglhlfq mgtdsqnqil
      121 lehaalretv nalisdqklq eifsrgpysv qghrvkiyqp egeegwlygv vshqdsitrl
      181 mevsvtesge iksvdprlih vmlmdnsapq seggtlkavk sskgkkkres iegkdgrrrk
      241 sasdsgcdpa skklkgdrge vdsngsdgge asrgpwkggn asgepgldqr akqppstfvp
      301 qinrnirfat ytkengrtlv vqdepvggdt pasftpysta tgqtplapev ggaenkeagk
      361 tleqvgqgiv asaavvttas stpntvrisd tglaagtvpe kqkgsrsqas gensrnsila
      421 ssgfgaplps ssqpltfgsg rsqsngvlat enkplgfsfg cssaqeaqkd tdlsknlffq
      481 cmsqtlptsn yfttvsesla ddsssrdsfk qsleslssgl ckgrsvlgtd tkpgskagss
      541 vdrkvpaesm ptltpafprs llnartpenh enlflqppkl sreepsnpfl afvekvehsp
      601 fssfasqasg ssssattvts kvapswpesh ssadsaslak kkplfittds sklvsgvlgs
      661 altsggpsls amgngrsssp tssltqpiem ptlsssptee rptvgpgqqd npllktfsnv
      721 fgrhsggfls spadfsqenk apfeavkrfs lderslacrq dsdsstnsdl sdlsdseeql
      781 qaktglkgip ehlmgklgpn gersaelllg kskgkqapkg rprtaplkvg qsvlkdvskv
      841 kklkqsgepf lqdgscinva phlhkcrecr leryrkfkeq eqddstvacr ffhfrrlift
      901 rkgvlrvegf lspqqsdpda mnlwipsssl aegidletsk yilanvgdqf cqlvmsekea
      961 mmmvephqkv awkravrgvr emcdvcettl fnihwvcrkc gfgvcldcyr lrksrprset
     1021 eemgdeevfs wlkcakgqsh epenlmptqi ipgtalynig dmvhaargkw gikancpcis
     1081 rqnksvlrpa vtngmsqlps inpsassgne ttfsggggpa pvttpepdhv pkadstdirs
     1141 eeplktdssa snsnselkai rppcpdtapp ssalhwladl atqkakeetk eagslrsvln
     1201 keshspfgld sfnstakvsp ltpklfnsll lgptasnnkt egsslrdllh sgpgklpqtp
     1261 ldtgipfppv fstssagvks kaslpnfldh iiasvvenkk tsdaskracn ltdtqkevke
     1321 mvmglnvldp htshswlcdg rllclhdpsn knnwkifrec wkqgqpvlvs gvhkklksel
     1381 wkpeafsqef gdqdvdlvnc rncaiisdvk vrdfwdgfei ickrlrsedg qpmvlklkdw
     1441 ppgedfrdmm ptrfedlmen lplpeytkrd grlnlasrlp syfvrpdlgp kmynayglit
     1501 aedrrvgttn lhldvsdavn vmvyvgipig egahdeevlk tidegdadev tkqrihdgke
     1561 kpgalwhiya akdaekirel lrkvgeeqgq enppdhdpih dqswyldqtl rkrlyeeygv
     1621 qgwaivqflg davfipagap hqvhnlysci kvaedfvspe hvkhcfrltq efrhlsntht
     1681 nhedklqvkn iiyhavkdav gtlkaheskl ars
//
LOCUS       XP_047273300             605 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Spindly isoform X2 [Homo sapiens].
ACCESSION   XP_047273300
VERSION     XP_047273300.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417344.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..605
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..605
                     /product="protein Spindly isoform X2"
                     /calculated_mol_wt=70041
     Region          84..>353
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..605
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /coded_by="XM_047417344.1:315..2132"
                     /db_xref="GeneID:54908"
                     /db_xref="HGNC:HGNC:26010"
                     /db_xref="MIM:616401"
ORIGIN      
        1 meadiitnlr crlkeaeeer lkaaqyglql vesqnelqnq ldkcrnemmt mtesyeqeky
       61 tlqrevelks rmleslscec eaikqqqkmh lekleeqlsr shgqevnelk tkieklkvel
      121 dearlsekql khqvdhqkel lsckseelrv mservqesms semlalqiel temesmkttl
      181 keevnelqyr qeqlellitn lmrqvdrlke ekeerekeav syynalekar vanqdlqvql
      241 dqalqqaldp nskgnslfae vedrraamer qlismkvkyq slkkqnvfnr eqmqrmklqi
      301 atllqmkgsq tefeqqerll amleqkngei khllgeirnl ekfknlydsm eskpsvdsgt
      361 ledntyytdl lqmkldnlnk eiestkgels iqrmkalfes qraldierkl fanerclqls
      421 esenmklrak ldelklkyep eetvevpvlk krrevlpvdi ttakdacvnn salggevyrl
      481 ppqkeetqsc pnslednnlq leksvsiytp vvslsphknl pvdmqlkkek kcvkligvpa
      541 daealsersg ntpnsprlaa esklqtevke gketssklek etckklhpil yvsskstpet
      601 qcpqq
//
LOCUS       XP_047274244             585 aa            linear   PRI 20-MAR-2023
DEFINITION  eyes absent homolog 4 isoform X20 [Homo sapiens].
ACCESSION   XP_047274244
VERSION     XP_047274244.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418288.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..585
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..585
                     /product="eyes absent homolog 4 isoform X20"
                     /calculated_mol_wt=63780
     Region          18..>210
                     /region_name="NupH_GANP"
                     /note="Nucleoporin homology of Germinal-centre associated
                     nuclear protein; pfam16768"
                     /db_xref="CDD:435572"
     Region          314..585
                     /region_name="HAD_Eya"
                     /note="protein tyrosine phosphatase domain of the nuclear
                     transcription factor of Eyes absent (Eya) and related
                     phosphatase domains; cd02601"
                     /db_xref="CDD:319789"
     Site            order(316,543,545,561,563..566,572,575,578..579,582..585)
                     /site_type="other"
                     /note="SIX1 interface [polypeptide binding]"
                     /db_xref="CDD:319789"
     Site            order(321..325,415..416,524,548..549,553..554)
                     /site_type="active"
                     /db_xref="CDD:319789"
     CDS             1..585
                     /gene="EYA4"
                     /gene_synonym="CMD1J; DFNA10"
                     /coded_by="XM_047418288.1:433..2190"
                     /db_xref="GeneID:2070"
                     /db_xref="HGNC:HGNC:3522"
                     /db_xref="MIM:603550"
ORIGIN      
        1 medsqdlneq svkktctesd vsqsqnsrsm emqdlaspht lvgggdtpgs skleksnlss
       61 tsvttngtgv itssgysprs ahqyspqlyp skpyphilst paaqtmsaya gqtqysgmqq
      121 pavytaysqt gqpyslptyd lgvmlpaikt esglsqtqsp lqsgclsysp gfstpqpgqt
      181 pysyqmpgss fapsstiyan nsvsnstnfs gsqqdypsyt afgqnqyaqy ysastygaym
      241 tsnntadgtp sststyqlqe slpgltnqpg efdtmqspst pikdldertc rssgsksrgr
      301 grknnpsppp dsdlervfvw dldetiivfh slltgsyaqk ygkdppmavt lglrmeemif
      361 nladthlffn dleecdqvhi ddvssddngq dlstysfatd gfhaaassan lclptgvrgg
      421 vdwmrklafr yrrvkelynt yknnvggllg pakrdawlql raeiegltds wltnalksls
      481 iistrsncin vlvtttqlip alakvllysl ggafpieniy satkigkesc ferivsrfgt
      541 nityvvigdg rdeehaanqh nmpfwrissh sdllalhqal eleyl
//
LOCUS       XP_047279123             836 aa            linear   PRI 20-MAR-2023
DEFINITION  whirlin isoform X9 [Homo sapiens].
ACCESSION   XP_047279123
VERSION     XP_047279123.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423167.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..836
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..836
                     /product="whirlin isoform X9"
                     /calculated_mol_wt=88871
     Region          37..112
                     /region_name="HN_L-whirlin_R1_like"
                     /note="first harmonin_N_like domain (repeat 1) of the long
                     isoform of whirlin, and related domains; cd07356"
                     /db_xref="CDD:259822"
     Site            order(39,43,56,59,62..63,66)
                     /site_type="other"
                     /note="putative protein binding site [polypeptide
                     binding]"
                     /db_xref="CDD:259822"
     Region          138..215
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(151..154,156,204..205,208..209)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          277..357
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(289..292,294,342..343,346..347)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          419..>475
                     /region_name="harmonin_N_like"
                     /note="N-terminal protein-binding module of harmonin and
                     similar domains, also known as HHD (harmonin homology
                     domain); cl11968"
                     /db_xref="CDD:448372"
     Site            order(420,423,427,440,443,446..447,450)
                     /site_type="other"
                     /note="putative protein binding site [polypeptide
                     binding]"
                     /db_xref="CDD:259818"
     Region          <492..>733
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          745..816
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(755..757,759,809..810,813..814)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     CDS             1..836
                     /gene="WHRN"
                     /gene_synonym="CIP98; DFNB31; PDZD7B; USH2D; WI"
                     /coded_by="XM_047423167.1:673..3183"
                     /db_xref="GeneID:25861"
                     /db_xref="HGNC:HGNC:16361"
                     /db_xref="MIM:607928"
ORIGIN      
        1 mnapldglsv sssstgslgs aagaggggga glrllsanvr qlhqaltall seaereqfth
       61 clnayharrn vfdlvrtlrv lldspvkrrl lpmlrlvipr sdqllfdqyt aeglylpatt
      121 pyrqpawggp dsagpgevrl vslrrakahe glgfsirggs ehgvgiyvsl vepgslaeke
      181 glrvgdqilr vndkslarvt haeavkalkg skklvlsvys agripggyvt nhiytwvdpq
      241 grsisppsgl pqphggalrq qegdrrstlh llqggdekkv nlvlgdgrsl gltirggaey
      301 glgiyitgvd pgseaegsgl kvgdqilevn grsflnilhd eavrllkssr hliltvkdvg
      361 rlpharttvd etkwiassri retmansagf lgdlttegin kpgfykgpag sqvtlsslgn
      421 qtrvlleeqa rhllneqeha tmayyldeyr ggsvsvealv malfkllnth akntldleet
      481 geavqgnina lpdvsvddvr stsqglssfk plprppplaq gndlplgqpr klgredlqpp
      541 ssmpscsgtv fsapqnrspp agtaptpgts saqdlpsspi yasvspanps skrpldahla
      601 lvnqhpigpf prvqspphlk spsaeatvag gcllppspsg hpdqtgtnqh fvmvevhrpd
      661 sepdvnevra lpqtrtstls qlsdsgqtls edsgvdagea easapgrgrq svstksrssk
      721 elprnerptd gankppglle ptstlvrvkk saatlgiaie ggantrqplp rivtiqrggs
      781 ahncgqlkvg hvilevnglt lrgkehreaa riiaeafktk drdyidflvt efnvml
//
LOCUS       XP_047279883            2033 aa            linear   PRI 20-MAR-2023
DEFINITION  dedicator of cytokinesis protein 8 isoform X1 [Homo sapiens].
ACCESSION   XP_047279883
VERSION     XP_047279883.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423927.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2033
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..2033
                     /product="dedicator of cytokinesis protein 8 isoform X1"
                     /calculated_mol_wt=231040
     Region          1..98
                     /region_name="DUF3398"
                     /note="Domain of unknown function (DUF3398); pfam11878"
                     /db_xref="CDD:432155"
     Region          491..671
                     /region_name="C2_Dock-C"
                     /note="C2 domains found in Dedicator Of CytoKinesis (Dock)
                     class C proteins; cd08696"
                     /db_xref="CDD:176078"
     Region          1568..1989
                     /region_name="DHR2_DOCK8"
                     /note="Dock Homology Region 2, a GEF domain, of Class C
                     Dedicator of Cytokinesis 8; cd11701"
                     /db_xref="CDD:212574"
     Site            order(1685,1695,1697..1698,1700..1701,1704..1705,
                     1707..1708,1711..1712)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:212574"
     Site            order(1725,1727,1750,1753..1756,1758..1759,1778..1780,
                     1797..1799,1827..1830,1840..1841,1844,1846,1883..1884,
                     1887,1903..1904,1906..1907,1910..1912,1915..1917,
                     1920..1921,1924,1952,1974,1977)
                     /site_type="other"
                     /note="Rac/Cdc42 binding site [polypeptide binding]"
                     /db_xref="CDD:212574"
     Site            1915..1920
                     /site_type="other"
                     /note="nucleotide sensor"
                     /db_xref="CDD:212574"
     CDS             1..2033
                     /gene="DOCK8"
                     /gene_synonym="HEL-205; MRD2; ZIR8"
                     /coded_by="XM_047423927.1:212..6313"
                     /db_xref="GeneID:81704"
                     /db_xref="HGNC:HGNC:19191"
                     /db_xref="MIM:611432"
ORIGIN      
        1 mthlnsldvq laqelgdftd ddldvvftpk ecrtlqpslp eegveldphv rdcvqtyire
       61 wlivnrknqg speicgfkkt gsrkdfhktl pkqtfesetl ecsepaaqag prhlnvlcdv
      121 sgkgpvtacd fdlrslqpdk rlenllqqvs aedfekqnee arrtnrqael falypsvdee
      181 daveirpvpe cpkehlgnri lvklltlkfe ieieplfasi alydvkerkk isenfhcdln
      241 sdqfkgflra htpsvaassq arsavfsvty pssdiylvvk iekvlqqgei gdcaepytvi
      301 kesdggkske kieklklqae sfcqrlgkyr mpfawapisl ssffnvstle revtdvdsvv
      361 grssvgerrt laqsrrlser alsleengvg snfktstlsv ssffkqegdr lsdedlfkfl
      421 adykrssslq rrvksipgll rleistapei inccltpeml pvkpfpenrt rphkeilefp
      481 trevyvphtv yrnllyvypq rlnfvnklas arnitikiqf mcgedasnam pvifgkssgp
      541 eflqevytav tyhnkspdfy eevkiklpak ltvnhhllft fyhiscqqkq gasvetllgy
      601 swlpillner lqtgsyclpv aleklppnys mhsaekvplq nppikwaegh kgvfnievqa
      661 vssvhtqdnh lekfftlchs lesqvtfpir vldqkisema lehelklsii clnssrlepl
      721 vlflhlvldk lfqlsvqpmv iagqtanfsq fafesvvaia nslhnskdls kdqhgrncll
      781 asyvhyvfrl pevqrdvpks gaptalldpr syhtygrtsa aavsskllqa rvmsssnpdl
      841 agthsaadee vknimsskia drncsrmsyy csgssdapss paaprpaskk hfheelalqm
      901 vvstgmvret vfkyawfffe llvksmaqhv hnmdkrdsfr rtrfsdrfmd dittivnvvt
      961 seiaallvkp qkeneqaekm nislafflyd llslmdrgfv fnlirhycsq lsaklsnlpt
     1021 lismrleflr ilcshehyln lnlffmnadt aptspcpsis sqnssscssf qdqkiasmfd
     1081 ltseyrqqhf ltgllftela aaldaegegi skvqrkavsa ihsllsshdl dprcvkpevk
     1141 vkiaalylpl vgiildalpq lcdftvadtr ryrtsgsdee qegagainqn valaiagnnf
     1201 nlktsgivls slpykqynml nadttrnlmi cflwimknad qslirkwiad lpstqlnril
     1261 dllficvlcf eykgkqssdk vstqvlqksr dvkarleeal lrgegargem mrrrapgndr
     1321 fpglnenlrw kkeqthwrqa nekldktkae ldqealisgn lateahliil dmqeniiqas
     1381 saldckdsll ggvlrvlvns lncdqsttyl thcfatlral iakfgdllfe eeveqcfdlc
     1441 hqvlhhcsss mdvtrsqaca tlyllmrfsf gatsnfarvk mqvtmslasl vgrapdfnee
     1501 hlrrslrtil ayseedtamq mtpfptqvee llcnlnsily dtvkmrefqe dpemlmdlmy
     1561 riaksyqasp dlrltwlqnm aekhtkkkcy teaamclvha aalvaeylsm ledhsylpvg
     1621 svsfqnissn vleesvvsed tlspdedgvc agqyftesgl vglleqaael fstgglyetv
     1681 nevyklvipi leahrefrkl tlthsklqra fdsivnkdhk rmfgtyfrvg ffgskfgdld
     1741 eqefvykepa itklpeishr leafygqcfg aefvevikds tpvdktkldp nkayiqitfv
     1801 epyfdeyemk drvtyfeknf nlrrfmyttp ftlegrprge lheqyrrntv lttmhafpyi
     1861 ktrisviqke efvltpieva iedmkkktlq lavainqepp dakmlqmvlq gsvgatvnqg
     1921 plevaqvfla eipadpklyr hhnklrlcfk efimrcgeav eknkrlitad qreyqqelkk
     1981 nynklkenlr pmierkipel ykpifrvesq krtlcclsay vyqlqnifnf dff
//
LOCUS       XP_047280213            2117 aa            linear   PRI 20-MAR-2023
DEFINITION  protein transport protein Sec16A isoform X22 [Homo sapiens].
ACCESSION   XP_047280213
VERSION     XP_047280213.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424257.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2117
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..2117
                     /product="protein transport protein Sec16A isoform X22"
                     /calculated_mol_wt=226925
     Region          <4..298
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1260..1622
                     /region_name="ACE1-Sec16-like"
                     /note="Ancestral coatomer element 1 (ACE1) of COPII coat
                     complex assembly protein Sec16; cd09233"
                     /db_xref="CDD:187750"
     Site            order(1379..1380,1382..1383,1385..1389,1391,1393,1403,
                     1405,1407..1408,1410..1411,1415,1421,1428,1437,1442,1445,
                     1473..1474)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:187750"
     Site            order(1545,1567..1568,1570..1571,1574..1575,1578,
                     1605..1606,1609..1610,1613,1617)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:187750"
     CDS             1..2117
                     /gene="SEC16A"
                     /gene_synonym="KIAA0310; p250; SEC16L"
                     /coded_by="XM_047424257.1:173..6526"
                     /db_xref="GeneID:9919"
                     /db_xref="HGNC:HGNC:29006"
                     /db_xref="MIM:612854"
ORIGIN      
        1 mqpppqtvps gmagpppagn prsvfwassp yrrrannnaa vapttcplqp vtdpfafsrq
       61 alqstplgss skssppvlqg papagfsqhp gllvphthar dssqgpcepl pgpltqprah
      121 aspfsgaltp sappgpemnr saevgpssep evqtlpylph yipgvdpets hgghphgnmp
      181 gldrplsrqn phdgvvtpaa spslpqpglq mpgqwgpvqg gpqpsgqhrs pcpegpvpsg
      241 vpcatsvphf ptpsilhqgp gheqhsplva ppaalpsdgr devshlqsgs hlannsdpes
      301 tfrqnprivn hwaspelrqn pgvknehrpa salvnplarg dspenrthhp lgagagsgca
      361 pleadsgasg alamffqgge teneenlsse kaglsgqadf ddfcsspglg rppapthvga
      421 gslcqallpg psneaagdvw gdtastgvpd asgsqyenve nlefvqnqev lpseplnldp
      481 sspsdqfryg plpgpavprh gavchtgapd atlhtvhpds vsssyssrsh grlsgsarpq
      541 elvgtfiqqe vgkpedeasg sffkqidssp vggetdettv sqnyrgsvsq pstpsppkpt
      601 gifqtsanss fepvkshlvg vkpfeadran vvgevretcv rqkqcrpaaa lpdaspgnle
      661 qppdnmetlc apqvcplpln stteavhmlp hagappldtv ypapekrpsa rtqgpvkces
      721 pattlwaqse lpdfggnvll apaapalyvc akpqppvvqp peeamsgqqs rnpssaapvq
      781 srggigasen lenppkmgee ealqsqvtkd aqgqpglera qqelvppqqq asppqlpkam
      841 fselsnpesl paqgqaqnsa qspaslvlvd agqqlpprpp qsssvslvss gsgqaavpse
      901 qpwpqpvpal apgpppqdla ayyyyrplyd ayqpqyslpy ppepgaasly yqdvyslyep
      961 ryrpydgaas ayaqnyrype perpssrash sserppprqg ypegyyssks gwssqsdyya
     1021 syyssqydyg dpghwdryhy sarvrdprty drrywcdaey dayrrehsaf gdrpekrdnn
     1081 wrydprftgs fdddpdphrd pygeevdrrs vhsehsarsl hsahslasrr sslsshshqs
     1141 qiyrshnvaa gsyeaplppg sfhgdfaygt yrsnfssgpg fpeygypadt vwpameqvss
     1201 rptspekfsv phvcarfgpg gqlikvipnl psegqpalve vhsmeallqh tseqeemraf
     1261 pgplakddth kvdvinfaqn kamkclqnen lidkesasll wnfivllcrq ngtvvgtdia
     1321 elllrdhrtv wlpgkspnea nlidftneav eqveeeesge aqlsfltggp aaaasslere
     1381 terfrellly grkkdalesa mknglwghal llaskmdsrt harvmtrfan slpindplqt
     1441 vyqlmsgrmp aastccgdek wgdwrphlam vlsnlnnnmd vesrtmatmg dtlasrglld
     1501 aahfcylmaq agfgvytkkt tklvligsnh slpflkfatn eaiqrteaye yaqslgaetc
     1561 plpsfqvfkf iyscrlaemg latqafhyce aiaksiltqp hlyspvlisq lvqmasqlrl
     1621 fdpqlkekpe eeslaaptwl vhlqqverqi kegagvwhqd galpqqcpgt pssemeqldr
     1681 pglsqpgalg ianpllavpa pspehsspsv rllpsapqtl pdgplaspar vpmfpvplpp
     1741 gplepgpgcv tpgpalgfle psgpglppgv pplqerrhll qearspdpgi vpqeapvgns
     1801 lselseenfd gkfanltpsr tvpdseappg wdradsgptq pplslspape tkrpgqaakk
     1861 etkepkkges wffrwlpgkk kteaylpddk nksivwdekk nqwvnlnepe eekkappppp
     1921 tsmpktvqaa ppalpgppga pvnmysrraa gtraryvdvl npsgtqrsep alapadfvap
     1981 laplpipsnl fvptpvssvr pqgrsgrndg llalsspdae epqlpdgtgr egpaaargla
     2041 npepapepkl srcssmssls revsqhfnqa pgdlpaaggp psgampfynp aqlaqacats
     2101 gssrlgrigq rkhlvln
//
LOCUS       XP_054185296             354 aa            linear   PRI 20-MAR-2023
DEFINITION  hepatocyte nuclear factor 1-beta isoform X5 [Homo sapiens].
ACCESSION   XP_054185296
VERSION     XP_054185296.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329321.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187614.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     Protein         1..354
                     /product="hepatocyte nuclear factor 1-beta isoform X5"
                     /calculated_mol_wt=39517
     CDS             1..354
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /coded_by="XM_054329321.1:176..1240"
                     /db_xref="GeneID:6928"
                     /db_xref="HGNC:HGNC:11630"
                     /db_xref="MIM:189907"
ORIGIN      
        1 mvskltslqq ellsallssg vtkevlvqal eellpspnfg vkletlplsp gsgaepdtkp
       61 vfhtltngha kgrlsgdegs edgddydtpp ilkelqalnt eeaaeqraev drmlsedpwr
      121 aakmikgymq qhnipqrevv dvtglnqshl sqhlnkgtpm ktqkraalyt wyvrkqreil
      181 rqfsqqshgp gqsddacsep tnkkmrrnrf kwgpasqqil yqaydrqknp skeerealve
      241 ecnraeclqr gvspskahgl gsnlvtevrv ynwfanrrke eafrqklamd ayssnqthsl
      301 npllshgsph hqpsssppnk lsgvlwmete msgrssslst tlqpgelegl hpyl
//
LOCUS       XP_054185915            1919 aa            linear   PRI 20-MAR-2023
DEFINITION  mediator of DNA damage checkpoint protein 1 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054185915
VERSION     XP_054185915.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329940.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_113891.3) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1919
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1919
                     /product="mediator of DNA damage checkpoint protein 1
                     isoform X6"
                     /calculated_mol_wt=208031
     CDS             1..1919
                     /gene="MDC1"
                     /gene_synonym="NFBD1"
                     /coded_by="XM_054329940.1:180..5939"
                     /db_xref="GeneID:9656"
                     /db_xref="HGNC:HGNC:21163"
                     /db_xref="MIM:607593"
ORIGIN      
        1 mghptfptcq qfpsrvayfq imedtqaidw dveeeeeteq sseslrcnve pvgrlhifsg
       61 ahgpekdfpl hlgknvvgrm pdcsvalpfp siskqhaeie ilawdkapil rdcgslngtq
      121 ilrppkvlsp gvshrlrdqe lilfadllcq yhrldvslpf vsrgpltvee tprvqgetqp
      181 qrlllaedse eevdflserr mvkksrttss svivpesdee ghspvlgglg ppfafnlnsd
      241 tdveegqqpa teeassaarr gatveakqse aevvteiqle kdqplvkerd ndtkvkrgag
      301 ngvvpagvil ersqppgeds dtdvdddsrp pgrpaevhle raqpfgfids dtdaeeerip
      361 atpvvipmkk rkifhgvgtr gpgapglahl qesqagsdtd veegkapqav pleksqasmv
      421 insdtddeee vsaaltlahl kesqpaiwnr daeedmpqrv vllqrsqttt erdsdtdvee
      481 eelpvenrea vlkdhtkira lvrahsekdq ppfgdsddsv eadksspgih lersqasttv
      541 dintqvekev ppgsaiihik khqvsvegtn qtdvkavggp akllvvslee awplhgdcet
      601 daeegtslta svvadvrksq lpaegdagae waaavlkqer ahevgaqggp pvaqveqdlp
      661 isrenltdlv vdtdtlgest qpqregaqvp tgrereqhvg gtkdsednyg dsedldlqat
      721 qcflenqgle vqsmedeptq afmltppqel gpshcsfqtt gtldepwevl atqpfclres
      781 edsetqpfdt hleaygpcls ppraipgdqh pespvhtepm giqgrgrqtv dkvmgllnck
      841 mppaekasri raaekvsrgd qespdaclpp tvpeapappq kplnsqsqkh lapppllspl
      901 lpsikptvrk trqdgsqeap eaplsselep fhpkpkirtr kssrmtpfpa tsaapephps
      961 tstaqpvtpk ptsqatrsrt nrssvktpep vvptapelqp ststdqpvts eptsqvtrgr
     1021 ksrssvktpe tvvptalelq pststdrpvt septsqatrg rknrssvktp epvvptapel
     1081 qpststdqpv tseptyqatr grknrssvkt pepvvptape lrpststdrp vtpkptsrtt
     1141 rsrtnmssvk tpetvvptap elqiststdq pvtpkptsrt trsrtnmssv knpestvpia
     1201 pelppstste qpvtpeptsr atrgrknrss gktpetlvpt apklepstst dqpvtpepts
     1261 qatrgrtnrs svktpetvvp tapelqpsts tdqpvtpept sqatrgrtdr ssvktpetvv
     1321 ptapelqasa stdqpvtsep tsrttrgrkn rssvktpetv vpaapelqps tstdqpvtpe
     1381 ptsratrgrt nrssvktpes ivpiapelqp stsrnqlvtp eptsratrcr tnrssvktpe
     1441 pvvptapeph pttstdqpvt pkltsratrr ktnrssvktp kpvepaasdl epftptdqsv
     1501 tpeaiaqggq sktlrsstvr ampvpttpef qspvttdqpi spepitqpsc ikrqraagnp
     1561 gslaapidhk pcsaplepks qasrnqrwga vraaesltai pepaspqlle tpihasqiqk
     1621 vepagrsrft pelqpkasqs rkrslatmds pphqkqpqrg evsqktviik eeeedtaekp
     1681 gkeedvvtpk pgkrkrdqae eepnripsrs lrrtklnqes tapkvlftgv vdargeravl
     1741 alggslagsa aeashlvtdr irrtvkflca lgrgipilsl dwlhqsrkag fflppdeyvv
     1801 tdpeqeknfg fslqdalsra rerrllegye iyvtpgvqpp ppqmgeiisc cggtylpsmp
     1861 rsykpqrvvi tcpqdfphcs iplrvglpll speflltgvl kqeakpeafv lsplemsst
//
LOCUS       XP_054186026            1785 aa            linear   PRI 20-MAR-2023
DEFINITION  tight junction protein ZO-1 isoform X22 [Homo sapiens].
ACCESSION   XP_054186026
VERSION     XP_054186026.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330051.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187660.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1785
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.1-13.3"
     Protein         1..1785
                     /product="tight junction protein ZO-1 isoform X22"
                     /calculated_mol_wt=200453
     CDS             1..1785
                     /gene="TJP1"
                     /gene_synonym="ZO-1"
                     /coded_by="XM_054330051.1:211..5568"
                     /db_xref="GeneID:7082"
                     /db_xref="HGNC:HGNC:11827"
                     /db_xref="MIM:601009"
ORIGIN      
        1 mrrleglclr rrrrrrgpar ersgdkmkyq kyltvlqmai gvtpsnrgsl lplkrklwvt
       61 pssenpngat ssvsqgkpsl rrikgrlhrs ksldsmdfce ltstameeta iweqhtvtlh
      121 rapgfgfgia isggrdnphf qsgetsivis dvlkggpaeg qlqendrvam vngvsmdnve
      181 hafavqqlrk sgknakitir rkkkvqipvs rpdpepvsdn eedsydeeih dprsgrsgvv
      241 nrrsekiwpr drsasrersl sprsdrrsva ssqpakptkv tlvksrknee yglrlashif
      301 vkeisqdsla ardgniqegd vvlkingtvt enmsltdakt lierskgklk mvvqrderat
      361 llnvpdlsds ihsanaserd diseiqslas dhsgrshdrp prrsrsrspd qrsepsdhsr
      421 hspqqpsngs lrsrdeeris kpgavstpvk haddhtpktv eevtvernek qtpslpepkp
      481 vyaqvgqpdv dlpvspsdgv lpnsthedgi lrpsmklvkf rkgdsvglrl aggndvgifv
      541 agvledspaa kegleegdqi lrvnnvdftn iireeavlfl ldlpkgeevt ilaqkkkdvy
      601 rrivesdvgd sfyirthfey ekespyglsf nkgevfrvvd tlyngklgsw lairigknhk
      661 evergiipnk nraeqlasvq ytlpktaggd radfwrfrgl rsskrnlrks redlsaqpvq
      721 tkfpayervv lreagflrpv tifgpiadva reklareepd iyqiaksepr dagtdqrssg
      781 iirlhtikqi idqdkhalld vtpnavdrln yaqwypivvf lnpdskqgvk tmrmrlcpes
      841 rksarklyer shklrknnhh lftttinlns mndgwygalk eaiqqqqnql vwvsegkadg
      901 atsddldlhd drlsylsapg seysmystds rhtsdyedtd teggaytdqe ldetlndevg
      961 tppesaitrs sepvredssg mhhenqtypp yspqaqpqpi hridspgfkp asqqvyrkdp
     1021 ypeemmrqnh vlkqpavshp ghrpdkepnl tyepqlpyve kqasrdleqp tyryesssyt
     1081 dqfsrnyehr lryedrvpmy eeqwsyyddk qpypsrppfd nqhsqdldsr qhpeesserg
     1141 yfprfeepap lsydsrprye qaprasalrh eeqpapgydt hgrlrpeaqp hpsagpkpae
     1201 skqyfeqysr syeqvppqgf tsraghfepl hgaaavppli pssqhkpeal psntkplppp
     1261 ptqteeeedp amkpqsvltr vkmfenkrsa sletkkdvnd tgsfkppeva skpsgapiig
     1321 pkptsqnqfs ehdktlyrip epqkpqlkpp edivrsnhyd peedeeyyrk qlsyfdrrsf
     1381 enkppahiaa shlsepakpa hsqnqsnfss ysskflgsyt sydylkrnvk wgkppeadgv
     1441 drsfgekrye piqatppppp lpsqyaqpsq pvtsaslhih skgahgegns vsldfqnslv
     1501 skpdpppsqn kpatfrppnr edtaqaafyp qksfpdkapv ngteqtqktv tpaynrftpk
     1561 pytssarpfe rkfespkfnh nllpsetahk pdlssktpts pktlvkshsl aqppefdsgv
     1621 etfsihaekp kyqinnistv pkaipvspsa veedededgh tvvatargif nsnggvlssi
     1681 etgvsiiipq gaipegveqe iyfkvcrdns ilppldkekg etllsplvmc gphglkflkp
     1741 velrlphcas mtpdgdpktw qnkclpgdpn ylvgancvsv lidhf
//
LOCUS       XP_054187421            1846 aa            linear   PRI 20-MAR-2023
DEFINITION  mediator of DNA damage checkpoint protein 1 isoform X8 [Homo
            sapiens].
ACCESSION   XP_054187421
VERSION     XP_054187421.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331446.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167249.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1846
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1846
                     /product="mediator of DNA damage checkpoint protein 1
                     isoform X8"
                     /calculated_mol_wt=199848
     CDS             1..1846
                     /gene="MDC1"
                     /gene_synonym="NFBD1"
                     /coded_by="XM_054331446.1:292..5832"
                     /db_xref="GeneID:9656"
                     /db_xref="HGNC:HGNC:21163"
                     /db_xref="MIM:607593"
ORIGIN      
        1 mghptfptcq qfpsrvayfq imedtqaidw dveeeeeteq sseslrcnve pvgrlhifsg
       61 ahgpekdfpl hlgknvvgrm pdcsvalpfp siskqhaeie ilawdkapil rdcgslngtq
      121 ilrppkvlsp gvshrlrdqe lilfadllcq yhrldvslpf vsrgpltvee tprvqgetqp
      181 qrlllaedse eevdflserr mvkksrttss svivpesdee ghspvlgglg ppfafnlnsd
      241 tdveegqqpa teeassaarr gatveakqse aevvteiqle kdqplvkerd ndtkvkrgag
      301 ngvvpagvil ersqppgeds dtdvdddsrp pgrpaevhle raqpfgfids dtdaeeerip
      361 atpvvipmkk rkifhgvgtr gpgapglahl qesqagsdtd veegkapqav pleksqasmv
      421 insdtddeee vsaaltlahl kesqpaiwnr daeedmpqrv vllqrsqttt erdsdtdvee
      481 eelpvenrea vlkdhtkira lvrahsekdq ppfgdsddsv eadksspgih lersqasttv
      541 dintqvekev ppgsaiihik khqvsvegtn qtdvkavggp akllvvslee awplhgdcet
      601 daeegtslta svvadvrksq lpaegdagae waaavlkqer ahevgaqggp pvaqveqdlp
      661 isrenltdlv vdtdtlgest qpqregaqvp tgrereqhvg gtkdsednyg dsedldlqat
      721 qcflenqgle avqsmedept qafmltppqe lgpshcsfqt tgllnckmpp aekasriraa
      781 ekvsrgdqes pdaclpptvp eapappqkpl nsqsqkhlap ppllspllps ikptvrktrq
      841 dgsqeapeap lsselepfhp kpkirtrkss rmtpfpatsa apephpstst aqpvtpkpts
      901 qatrsrtnrs svktpepvvp tapelqpsts tdqpvtsept sqvtrgrksr ssvktpetvv
      961 ptalelqpst stdrpvtsep tsqatrgrkn rssvktpepv vptapelqps tstdqpvtse
     1021 ptyqatrgrk nrssvktpep vvptapelrp ststdrpvtp kptsrttrsr tnmssvktpe
     1081 tvvptapelq iststdqpvt pkptsrttrs rtnmssvknp estvpiapel ppststeqpv
     1141 tpeptsratr grknrssgkt petlvptapk lepststdqp vtpeptsqat rgrtnrssvk
     1201 tpetvvptap elqpststdq pvtpeptsqa trgrtdrssv ktpetvvpta pelqasastd
     1261 qpvtseptsr ttrgrknrss vktpetvvpa apalqpstst dqpvtpepts ratrgrtnrs
     1321 svktpesivp iapelqpsts rnqlvtpept sratrcrtnr ssvktpepvv ptapephptt
     1381 stdqpvtpkl tsratrrktn rssvktpkpv epaasdlepf tptdqsvtpe aiaqggqskt
     1441 lrsstvramp vpttpefqsp vttdqpispe pitqpscikr qraagnpgsl aapidhkpcs
     1501 aplepksqas rnqrwgavra aesltaipep aspqlletpi hasqiqkvep agrsrftpel
     1561 qpkasqsrkr slatmdspph qkqpqrgevs qktviikeee edtaekpgke edvvtpkpgk
     1621 rkrdqaeeep nripsrslrr tklnqestap kvlftgvvda rgeravlalg gslagsaaea
     1681 shlvtdrirr tvkflcalgr gipilsldwl hqsrkagffl ppdeyvvtdp eqeknfgfsl
     1741 qdalsrarer rllegyeiyv tpgvqppppq mgeiisccgg tylpsmprsy kpqrvvitcp
     1801 qdfphcsipl rvglpllspe flltgvlkqe akpeafvlsp lemsst
//
LOCUS       XP_054187903             466 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription elongation factor A protein 3 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054187903
VERSION     XP_054187903.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331928.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_014040926.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..466
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     Protein         1..466
                     /product="transcription elongation factor A protein 3
                     isoform X3"
                     /calculated_mol_wt=51710
     CDS             1..466
                     /gene="TCEA3"
                     /gene_synonym="TFIIS; TFIIS.H"
                     /coded_by="XM_054331928.1:116..1516"
                     /db_xref="GeneID:6920"
                     /db_xref="HGNC:HGNC:11615"
                     /db_xref="MIM:604128"
ORIGIN      
        1 mgqeeellri akklekmvar kntegaldll kklhscqmsi qllqttrigv avngvrkhcs
       61 dkevvslakv liknwkrlld spgppkgekg eerekakkke kglecsdwkp eaglspprkk
      121 redpktrsns skskaespkt psspltptfa ssmcllapcy ltgdsvrdkc vemlsaalka
      181 dddykdygvn cdkmaseied hiyqelkstd mkyrnrvrsr isnlkdprnp glrrnvlsga
      241 isagliakmt aeemasdelr elrnamtqea irehqmaktg gtttdlfqcs kckkknctyn
      301 qvqtrsadep mttfvlcnec gnrwkdeqvc hlstdgigfl rsteerknil hldhaslesa
      361 stdgisfepg hsqgwetgrl spvrkelnln atrpsfppke alkvlpksvt qtapapakae
      421 vlfsrmgakq rllpecsflp sllkeqsvvt cllsvsncsl tcmctm
//
LOCUS       XP_054189305             690 aa            linear   PRI 20-MAR-2023
DEFINITION  NF-kappa-B-repressing factor isoform X1 [Homo sapiens].
ACCESSION   XP_054189305
VERSION     XP_054189305.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333330.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791817) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..690
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     Protein         1..690
                     /product="NF-kappa-B-repressing factor isoform X1"
                     /calculated_mol_wt=77542
     CDS             1..690
                     /gene="NKRF"
                     /gene_synonym="ITBA4; NRF"
                     /coded_by="XM_054333330.1:263..2335"
                     /db_xref="GeneID:55922"
                     /db_xref="HGNC:HGNC:19374"
                     /db_xref="MIM:300440"
ORIGIN      
        1 mekilqmaeg idigempsyd lvlskpskgq krhlstcdgq nppkkqagsk fharprfepv
       61 hfvassskde rqedpygpqt kevneqthfa smprdiyqdy tqdsfsiqdg nsqycdssgf
      121 iltkdqpvta nmyfdsgnpa psttsqqans qstpepspsq tfpesvvaek qyfiekltat
      181 iwknlsnpem tsgsdkinyt ymltrciqac ktnpeyiyap lkeippadip knkklltdgy
      241 acevrcqniy lttgyagskn gsrdratela vkllqkriev rvvrrkfkht fgedlvvcqi
      301 gmssyefppa lkppedlvvl gkdasgqpif nasakhwtnf vitenandai gilnnsasfn
      361 kmsieykyem mpnrtwrcrv flqdhclaeg ygtkktskha aadealkilq ktqptypsvk
      421 ssqchtgssp rgsgkkkdik dlvvyenssn pvctlndtaq fnrmtveyvy ermtglrwkc
      481 kvilesevia eavgvkktvk yeaageavkt lkktqptvin nlkkgavedv isrneiqgrs
      541 aeeaykqqik ednignqllr kmgwtggglg ksgegirepi svkeqhkreg lgldvervnk
      601 iakrdieqii rnyarsesht dltfsreltn derkqihqia qkyglksksh gvghdrylvv
      661 grkrrkedll dqlkqegqvg hyelvmpqan
//
LOCUS       XP_054189433             260 aa            linear   PRI 20-MAR-2023
DEFINITION  immunoglobulin alpha Fc receptor isoform X1 [Homo sapiens].
ACCESSION   XP_054189433
VERSION     XP_054189433.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333458.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187671.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..260
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..260
                     /product="immunoglobulin alpha Fc receptor isoform X1"
                     /calculated_mol_wt=29133
     CDS             1..260
                     /gene="FCAR"
                     /gene_synonym="CD89; CTB-61M7.2; FcalphaR; FcalphaRI"
                     /coded_by="XM_054333458.1:200..982"
                     /db_xref="GeneID:2204"
                     /db_xref="HGNC:HGNC:3608"
                     /db_xref="MIM:147045"
ORIGIN      
        1 mpfisakssp vipldgsvki qcqaireayl tqlmiiknst yreigrrlkf wnetdpefvi
       61 dhmdankagr yqcqyrighy rfrysdtlel vvtglygkpf lsadrglvlm pgenisltcs
      121 sahipfdrfs lakegelslp qhqsgehpan fslgpvdlnv sgiyrcygwy nrspylwsfp
      181 snalelvvtd sihqdyttqn lirmavaglv lvallailve nwhshtalnk easadvaeps
      241 wsqqmcqpgl tfartpsvck
//
LOCUS       XP_054189813             760 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine nucleotide exchange factor VAV3 isoform X3 [Homo sapiens].
ACCESSION   XP_054189813
VERSION     XP_054189813.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054333838.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..760
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..760
                     /product="guanine nucleotide exchange factor VAV3 isoform
                     X3"
                     /calculated_mol_wt=87521
     CDS             1..760
                     /gene="VAV3"
                     /coded_by="XM_054333838.1:996..3278"
                     /db_xref="GeneID:10451"
                     /db_xref="HGNC:HGNC:12659"
                     /db_xref="MIM:605541"
ORIGIN      
        1 mrkselfeaf dlfdvrdfgk vietlsrlsr tpialatgir pfpteesind ediykglpdl
       61 idetlvedee dlydcvyged eggevyedlm kaeeahqpkc pendirsccl aeikqteeky
      121 tetlesieky fmaplkrflt aaefdsvfin ipelvklhrn lmqeihdsiv nkndqnlyqv
      181 finykerlvi ygqycsgves aissldyisk skedvklkle ecskranngk ftlrdllvvp
      241 mqrvlkyhll lqelvkhttd ptekanlkla ldamkdlaqy vnevkrdnet lreikqfqls
      301 ienlnqpvll fgrpqgdgei rittldkhtk qerhiflfdl avivckrkgd nyemkeiidl
      361 qqykiannpt tdkenkkwsy gfylihtqgq nglefycktk dlkkkwleqf emalsnirpd
      421 yadsnfhdfk mhtftrvtsc kvcqmllrgt fyqgylcfkc garahkeclg rvdncgrvns
      481 geqgtlklpe krtnglrrtp kqvdpglpkm qvirnysgtp ppalhegppl qlqagdtvel
      541 lkgdahslfw qgrnlasgev gffpsdavkp cpcvpkpvdy scqpwyagam erlqaeteli
      601 nrvnstylvr hrtkesgeya isikynneak hikiltrdgf fhiaenrkfk slmelveyyk
      661 hhslkegfrt ldttlqfpyk epehsagqrg nragnsllsp kvlgiaiary dfcardmrel
      721 sllkgdvvki ytkmsangww rgevngrvgw fpstyveede
//
LOCUS       XP_054190012             590 aa            linear   PRI 20-MAR-2023
DEFINITION  muscarinic acetylcholine receptor M3 isoform X1 [Homo sapiens].
ACCESSION   XP_054190012
VERSION     XP_054190012.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334037.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..590
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..590
                     /product="muscarinic acetylcholine receptor M3 isoform X1"
                     /calculated_mol_wt=65997
     CDS             1..590
                     /gene="CHRM3"
                     /gene_synonym="EGBRS; HM3; PBS"
                     /coded_by="XM_054334037.1:1248..3020"
                     /db_xref="GeneID:1131"
                     /db_xref="HGNC:HGNC:1952"
                     /db_xref="MIM:118494"
ORIGIN      
        1 mtlhnnstts plfpnisssw ihspsdaglp pgtvthfgsy nvsraagnfs spdgttddpl
       61 gghtvwqvvf iafltgilal vtiignilvi vsfkvnkqlk tvnnyfllsl acadliigvi
      121 smnlfttyii mnrwalgnla cdlwlaidyv asnasvmnll visfdryfsi trpltyrakr
      181 ttkragvmig lawvisfvlw apailfwqyf vgkrtvppge cfiqflsept itfgtaiaaf
      241 ympvtimtil ywriyketek rtkelaglqa sgteaetenf vhptgssrsc ssyelqqqsm
      301 krsnrrkygr chfwfttksw kpsseqmdqd hsssdswnnn daaaslensa ssdeedigse
      361 traiysivlk lpghstilns tklpssdnlq vpeeelgmvd lerkadklqa qksvddggsf
      421 pksfsklpiq lesavdtakt sdvnssvgks tatlplsfke atlakrfalk trsqitkrkr
      481 mslvkekkaa qtlsaillaf iitwtpynim vlvntfcdsc ipktfwnlgy wlcyinstvn
      541 pvcyalcnkt frttfkmlll cqcdkkkrrk qqyqqrqsvi fhkrapeqal
//
LOCUS       XP_054221467             397 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein phosphatase non-receptor type 20 isoform X35 [Homo
            sapiens].
ACCESSION   XP_054221467
VERSION     XP_054221467.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365492.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..397
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..397
                     /product="tyrosine-protein phosphatase non-receptor type
                     20 isoform X35"
                     /calculated_mol_wt=45467
     CDS             1..397
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /coded_by="XM_054365492.1:252..1445"
                     /db_xref="GeneID:26095"
                     /db_xref="HGNC:HGNC:23423"
                     /db_xref="MIM:610630"
ORIGIN      
        1 mssprdfrae pvndyegnds eaedlnfret lpsssqentp rskvfenkvn sekvklslrn
       61 fphndyedvf eepsesgsdp smwtargpfr rdrwssedee aagpsqalsp llsdtrkivs
      121 egeldqlaqi rplifnfheq taikdclkil eektaaydim qefmalelkn lpgefnsgnq
      181 psnreknryr dilplkaamp ppseeidatl peetfitspe fvalqdiads sqdsqppsfi
      241 asrpitrlks qqalkddstr vplgkskdyi nasyirivnc geeyfyiatq gpllstiddf
      301 wqmvlennsn viamitreie ggiikcyhyw pislkkplel khfrvfleny qilqyfiirm
      361 fqvveksfni mdivaqmreq rsgmvqtkvn akvktfd
//
LOCUS       XP_054222570             572 aa            linear   PRI 20-MAR-2023
DEFINITION  protein artemis isoform X2 [Homo sapiens].
ACCESSION   XP_054222570
VERSION     XP_054222570.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366595.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..572
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..572
                     /product="protein artemis isoform X2"
                     /calculated_mol_wt=64521
     CDS             1..572
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /coded_by="XM_054366595.1:417..2135"
                     /db_xref="GeneID:64421"
                     /db_xref="HGNC:HGNC:17642"
                     /db_xref="MIM:605988"
ORIGIN      
        1 mflfqgnngt vlytgdfrla qgeaarmell hsggrvkdiq svyldttfcd prfyqipsre
       61 eclsgvlelv rswitrspyh vvwlnckaay gyeylftnls eelgvqvhvn kldmfrnmpe
      121 ilhhlttdrn tqihacrhpk aeeyfqwskl pcgitsrnri plhiisikps tmwfgersrk
      181 tnvivrtges syracfsfhs syseikdfls ylcpvnaypn vipvgttmdk vveilkplcr
      241 ssqstepkyk plgklkrart vhrdseeedd ylfddplpip lrhkvpypet fhpevfsmta
      301 vsekqpeklr qtpgccraec mqssrftnfv dceesnsese eevgipaslq gdlgsvlhlq
      361 kadgdvpqwe vffkrndeit deslenfpss tvaggsqspk lfsdsdgest hissqnssqs
      421 thiteqgsqg wdsqsdtvll ssqernsgdi tsldkadyrp tikenipasl meqnvicpkd
      481 tysdlksrdk dvtivpstge pttlssethi peeksllnls tnadsqsssd fevpstpeae
      541 lpkrehlqyl yeklatgesi avkkrkcsll dt
//
LOCUS       XP_054223879             903 aa            linear   PRI 20-MAR-2023
DEFINITION  disks large homolog 2 isoform X13 [Homo sapiens].
ACCESSION   XP_054223879
VERSION     XP_054223879.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367904.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..903
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..903
                     /product="disks large homolog 2 isoform X13"
                     /calculated_mol_wt=100841
     CDS             1..903
                     /gene="DLG2"
                     /gene_synonym="chapsyn-110; PPP1R58; PSD-93; PSD93"
                     /coded_by="XM_054367904.1:546..3257"
                     /db_xref="GeneID:1740"
                     /db_xref="HGNC:HGNC:2901"
                     /db_xref="MIM:603583"
ORIGIN      
        1 mspvvkdpdc ftpmichckv actnntlslm fgckyryqde daphdhslpr lthevrgpel
       61 vhvseknlsq ienvhgyvlq shisplkasp apiivntdtl dtipyvngte ieyefeeitl
      121 ergnsglgfs iaggtdnphi gddpgifitk iipggaaaed grlrvndcil rvnevdvsev
      181 shskavealk eagsivrlyv rrrrpiletv veiklfkgpk glgfsiaggv gnqhipgdns
      241 iyvtkiidgg aaqkdgrlqv gdrllmvnny sleevtheea vailkntsev vylkvgkptt
      301 iymtdpygpp dithsysppm enhllsgnng tleyktslpp ispgryspip khmlvdddyt
      361 rppepvystv nklcdkpasp rhyspvecdk sfllsapysh yhlgllpdse mtshsqhsta
      421 trqpsmtlqr avslegeprk vvlhkgstgl gfnivggedg egifvsfila ggpadlsgel
      481 qrgdqilsvn gidlrgashe qaaaalkgag qtvtiiaqyq pedyarfeak ihdlreqmmn
      541 hsmssgsgsl rtnqkrslyv ramfdydksk dsglpsqgls fkygdilhvi nasddewwqa
      601 rrvmlegdse emgvipskrr verkerarlk tvkfnakpgv idskgsfndk rkksfifsrk
      661 fpfyknkeqs eqetsdpeqh vssnasdses syrgqedlil syepvtrqei nytrpviilg
      721 pmkdrinddl isefpdkfgs cvphttrpkr dyevdgrdyh fvisreqmek diqehkfiea
      781 gqyndnlygt svqsvrfvae rgkhcildvs gnaikrlqva qlypiaifik prsleplmem
      841 nkrlteeqak ktydraikle qefgeyftai vqgdtlediy nqcklvieeq sgpfiwipsk
      901 ekl
//
LOCUS       XP_054224825            6114 aa            linear   PRI 20-MAR-2023
DEFINITION  mucin-6 isoform X5 [Homo sapiens].
ACCESSION   XP_054224825
VERSION     XP_054224825.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368850.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6114
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..6114
                     /product="mucin-6 isoform X5"
                     /calculated_mol_wt=632265
     CDS             1..6114
                     /gene="MUC6"
                     /gene_synonym="MUC-6"
                     /coded_by="XM_054368850.1:18..18362"
                     /db_xref="GeneID:4588"
                     /db_xref="HGNC:HGNC:7517"
                     /db_xref="MIM:158374"
ORIGIN      
        1 mdgssrpagp sasssplctm vqrwlllscc gallsaglan tsytspglqr lkdspqtapd
       61 kgqcstwgag hfstfdhhvy dfsgtcnyif aatckdafpt fsvqlrrgpd gsisriivel
      121 gasvvtvsea iisvkdigvi slpytsnglq itpfgqsvrl vakqlelele vvwgpdshlm
      181 vlverkymgq mcglcgnfdg kvtnefvsee gkflephkfa alqklddpge ictfqdipst
      241 hvrqaqhari ctqlltlvap ecsvskepfv lscqadvaaa pqpgpqnssc atlseysrqc
      301 smvgqpvrrw rspglcsvgq cpanqvyqec gsacvktcsn pqhscsssct fgcfcpegtv
      361 lndlsnnhtc vpvtqcpcvl hgamyapgev tiaacqtcrc tlgrwvcter pcpghcsleg
      421 gsfvttfdar pyrfhgtcty illqspqlpe dgalmavydk sgvshsetsl vavvylsrqd
      481 kivisqdevv tnngeakwlp yktrnitvfr qtsthlqmat sfglelvvql rpifqayvtv
      541 gpqfrgqtrg lcgnfngdtt ddfttsmgia egtaslfvds wragncpaal eretdpcsms
      601 qlnkvcaeth csmllrtgtv ferchatvnp apfykrcvyq acnyeetfph icaalgdyvh
      661 acslrgvllw gwrssvdnct ipctgnttfs ynsqacertc lslsdratec hhsavpvdgc
      721 ncpdgtylnq kgecvrkaqc pcilegykfi laeqstving itchcingrl scpqrpqmfl
      781 ascqapktfk scsqssenkf gaacaptcqm latgvacvpt kcepgcvcae glyenadgqc
      841 vppeecpcef sgvsypggae lhtdcrtcsc srgrwacqqg thcpstctly geghvitfdg
      901 qrfvfdgnce yilatdvcgv ndsqptfkil tenvicgnsg vtcsraikif lgglsvvlad
      961 rnytvtgeep hvqlgvtpga lslvvdisip grynltliwn rhmtiliria rasqdplcgl
     1021 cgnfngnmkd dfetrsryva sselelvnsw kesplcgdvs fvtdpcslna frrswaerkc
     1081 svinsqtfat chskvyhlpy yeacvrdacg cdsggdcecl cdavaayaqa cldkgvcvdw
     1141 rtpafcpiyc gfynthtqdg hgeyqytqea nctwhyqpcl cpsqpqsvpg sniegcyncs
     1201 qdeyfdheeg vcvpcmpptt pqppttpqlp ttgsrptqvw pmtgtsttig llsstgpsps
     1261 snhtpasptq tpllpatlts skptassgep prpttavtpq atsglpptat lrstatkptv
     1321 tqattratas taspattsta qsttrttmtl ptpatsgtsp tlpkstnqel pgttatqttg
     1381 prptpasttg pttpqpgqpt rptatettqt rttteyttpq tphtthsppt agspvpstgp
     1441 vtatsfhatt typtpshpet tlpthvppfs tslvtpstht vitpthaqma tsasnhsapt
     1501 gtipppttlk atgsthtapp itpttsgtsq ahssfstnkt ptslhshtss thhpevtpts
     1561 tttitpnpts trtrtpvaht nsatssrppp pftthspptg sspfsstgpm tatsfktttt
     1621 yptpslpqtt llthvppfst slvtpithtv itpthpqmst sayihstptg tiappttvka
     1681 trstytaplm tattsrisqa hssistakts tslhshasst hhpevtptst tnvtpkstsr
     1741 gtstpvthtt satssrpptp itthssptrs splsstgrmt atslktttty ptpsqahitl
     1801 pihvppfsts svtpsthtvi tpthpqmsts asnhststgt ipplttlmat gsthtaplit
     1861 vttsrtsqvh ssfstaktst sllshassth hpeittnstt titpnptstg tgtpvahtts
     1921 atssrppppf tthspptess plsptgpmtp tsfkttttyp ttshpqttlp thvppfssss
     1981 vtpsthtvit pthaqmstsa sihstptgti pplttltatg sthtaspmtg ttirttqahs
     2041 sfsiaktsts ilshassthh pettptsttn itpkstsagt stpvahttla tssrpptpft
     2101 thspptgssp isstgpmtat sikttttypt pshpqttltt hvppfstssv tpsthtvitp
     2161 thaqmstsas ihstptgtvp plttrmptgs thtgppmtgt iiqtskahns fstaktstsl
     2221 hshassthhp ettptsttni tpkstsagts tpvahttlat ssrlpttftt hfpptgsshv
     2281 sstgpmtats fqtttthptp shpqttlpth ippfstslvt psthtvitpt haqvstsasi
     2341 hstptgtipp pttvkatgtg sthtaprmtv ttsgtsqahs sfstaktsts lhshasstlh
     2401 pevtptsttt itpnptntgi rtpvanttsa tssrlttpft thspptgssp isstgpmtat
     2461 sfqttttypt pshpqttlpt hvppfstslv tpsthtvitp thaqmatsas ihstptgtip
     2521 plttlmntgs thtappvtpt tsgtsqaass fstaktstsl hshtssthhp evtptattki
     2581 ttnptsigss tpmahttsat ssrlttpftt hspstgsspv sstgpmtats fqttttyptp
     2641 slsqttlpty vppfstslvt psthtvitpp rtqmatsasi hstptgtipp pttlkatgst
     2701 htaptrtltt sgtsqalssl ntaktstslh shtssthhpe atststtnit pnptstgtgt
     2761 pvahttsats srlttpftth spptgstpis stgpvtatsf hatttyptps hpqtthpthv
     2821 tsfstslvtp sthtvitpth aqmatsasih stptgtispp ttlkatgsih tappmtstts
     2881 gtsqspssfs maktstslpy htssthhpev tptsttnitp khtstgtrtp vahttsatss
     2941 klptpftths pptgsspiss tgpvtatsfq ttttyptpsh shttlpthvp psstslvtpn
     3001 thtviththa qmstsasihs tptgtipppt tlkatgstht appmtpttsg trqapssfst
     3061 aktstslhsh tssthhpavt ptstttitpn htstgtrtpv ahttsatssr lptpftthsp
     3121 ptgsspisst apvtatsfqt tttypttsqs qttlpthipp fstslvtpst htvitpthqq
     3181 matsasihst ptgtippltt lkatgsthta ppmtpttsgt sqalssfsta ktstslhsht
     3241 ssthhpevtp tsttitpkpt stetgtpvad ttsatssrlp tpftthslpt gsspfsstgp
     3301 mtatsfqttt typtpshpht tlpthippfs tslvtpstht vittthaqms tsasihstpt
     3361 gtipppttlk atgsthtapp mtpttsgtsq apssfstakt stslhshtss ahhpevtpts
     3421 ttitpnptst etvtpvahtt satssrlttp ftthspptgs spisstgpvt atsfhattty
     3481 ptpshpqttl pthvpsfsts lvtpsthtvi tpthaqmtts asihsmptgt ipppttlkat
     3541 gsthtappmm pttsgtsqas ssfntaktst slhshtssth hpevtptsit nitlnptsig
     3601 twtpvahtts atssrlttpf tthspptgtt pisstgpvta tsfhatttyp tpshpqttlp
     3661 thvpsfstsl vtpsthivit pthaqmatsa sihsmqtgti pppttikatg sthtappmtp
     3721 ttsgtsqsls sfstaktsts lpyhtssthh pevtptsttn itpkhtstgt rtpvahttsa
     3781 tssrlptpft thspptgssp isstgpmtap sfqttttypt pshpqttlpt hippfstslv
     3841 tpsthkvitp thaqmstsas ihstptgtip plttlkvtgs thtappitvt tsgtspsass
     3901 fstgktstsl hshtssthyp evtptsttti tpnhtstgtr tpvahttsat ssrlpipftt
     3961 hspptgsspi sstgpmtats fqttttyptp shpqttlpth lppfstslvt psthtviitt
     4021 htqmatsasi hstptgtvpp pttlkatgst htaptmtptt sgtsqalssf ntaktstslh
     4081 sqtssthlpe vtptstaitp nptstgtgtp vahttsatss rlttpftths sptgsspfss
     4141 tgpmtatsfq ttttyptpsh pqttlpthvp pfstslvtps thtvitptha qmatsasihs
     4201 mptgtipppt tlkatgstht aptmtpttsg tsqalsslnt aktstslhsh tssthhaeat
     4261 ststtnitpn ptstgtppmt vttsgtsqsr ssfstaktst slhshtssth hpevtststt
     4321 sitpnhtstg trtpvahtts atssrlptpf tthspptgtt pisstgpvta tsfqttttyp
     4381 tpshphttlp thvpsfstsl vtpsthivit pthaqmatsa sihsmptgti pppttikatg
     4441 sthtappmta ttsgtsqsps sfstaktsts lhshissthh pevtptsttt itpnhtstgt
     4501 rtpvahttsa tssrlpipft thspptgssp isstgpmtat sfqttttypt pshpqttlpt
     4561 hlppfstslv tpsthtviit thtqmatsas ihstptgtvp ppttlkatgs thtaptmtpt
     4621 tsgtsqalss fntaktstsl hsqtssthlp evtptsttit pnptspgtgt pvahttsats
     4681 srlttpftth ssptgsspfs stgpmtatsf qttttyptps hpqttlpthv ppfstslvtp
     4741 sthtvitpth aqmatsasih smptgtippp ttlkatgsth taptmtltts gtsqalssln
     4801 taktstslhs htssthhaea tststtnitp nptstgtppm tvttsgtsqs rssfstakts
     4861 tslhshtsst hhpevtstst tsitpnhtst gtrtpvahtt satssrlptp ftthspptgt
     4921 tpisstgpvt atsfqttttd ptpshphttl pthvpsfsts lvtpsthivi tpthaqmats
     4981 asihsmptgt ipppttikat gsthtappmt attsgtsqsp ssfstaktst slhshissth
     5041 hpevtptstt titpnhtstg trtpvahtts atssrlpipf tthspptgss pisstgpmta
     5101 tsfqttttyp tpshpqttlp thippfstsl vtpsthtvii tthtqmatsa sihstptgtv
     5161 pppttlkatg sthtaptmtp ttsgtsqals sfntaktsts lhsqtfsthl pevtptstai
     5221 tpnptspgtg tpvahttsat ssrlttpftt hssptgsspf sstgpmtats fqttttyptp
     5281 shpqttlpth vppfstslvt psthtvitpt haqmatsasi hsmptgtipp pttlkatgst
     5341 htaptmtltt sgtsqalssl ntaktstslh shtssthhae atststtnit pnptstgtpp
     5401 mtvttsgtsq srssfstakt stslhshtss thhpevtsts ttsitpnhts tgtrtpvaht
     5461 tsatssrlpt pftthspptg ttpisstgpv tatsfqtttt yptpshphtt lpthvpsfst
     5521 slvtpsthtv iipthtqmat sasihsmptg tipppttika tgsthtappm tpttsgtsqs
     5581 pssfstakts tslpyhtsst hhpevtptst tnitpkhtst gtrtpvahtt sasssrlptp
     5641 ftthspptgs spfsstgpmt atsfqtttty ptpshpqttl pthvppfsts lvtpsthtvi
     5701 itthtqmats asihstptgt vpppttlkat gsthtappmt vttsgtsqth ssfstatass
     5761 sfisssswlp qnsssrppss pittqlphls sattpvsttn qlsssfspsp sapstvssyv
     5821 psshsspqts spsvgtsssf vsapvhsttl ssgshsslst hpttasvsas plfpsspaas
     5881 ttiratlpht isspftlsal lpistvtvsp tpsshlasst iafpstprtt asthtapafs
     5941 sqsttsrsts lttrvptsgf vsltsgvtgi ptspvtnltt rhpgptlspt trfltsslta
     6001 hgstpasapv sslgtptpts pgvcsvreqq eeitfkgcma nvtvtrcega cisaasfnii
     6061 tqqvdarcsc crplhsyeqq lelpcpdpst pgrrlvltlq vfshcvcssv acgd
//
LOCUS       XP_054225093             106 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 138 isoform X3 [Homo sapiens].
ACCESSION   XP_054225093
VERSION     XP_054225093.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369118.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..106
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..106
                     /product="transmembrane protein 138 isoform X3"
                     /calculated_mol_wt=12116
     CDS             1..106
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /coded_by="XM_054369118.1:187..507"
                     /db_xref="GeneID:51524"
                     /db_xref="HGNC:HGNC:26944"
                     /db_xref="MIM:614459"
ORIGIN      
        1 mlqtsnyslv lslqflllsy dlfvnsfsel lqktpviqlv lfiiqdiavl fniiiiflmf
       61 fntfvfqagl vnllfhkfkg tiiltavyfa lsislhvwvm gfdswv
//
LOCUS       XP_054226875            1168 aa            linear   PRI 20-MAR-2023
DEFINITION  adenylate cyclase type 6 isoform X1 [Homo sapiens].
ACCESSION   XP_054226875
VERSION     XP_054226875.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370900.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1168
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1168
                     /product="adenylate cyclase type 6 isoform X1"
                     /calculated_mol_wt=130485
     CDS             1..1168
                     /gene="ADCY6"
                     /gene_synonym="AC6; LCCS8"
                     /coded_by="XM_054370900.1:1153..4659"
                     /db_xref="GeneID:112"
                     /db_xref="HGNC:HGNC:237"
                     /db_xref="MIM:600294"
ORIGIN      
        1 mswfsgllvp kvderktawg erngqkrsrr rgtraggfct prymsclrda eppsptpagp
       61 prcpwqddaf irrggpgkgk elglravalg fedtevttta ggtaevapda vprsgrscwr
      121 rlvqvfqskq frsaklerly qryffqmnqs sltllmavlv lltavllafh aaparpqpay
      181 vallacaaal fvglmvvcnr hsfrqdsmwv vsyvvlgila avqvggalaa dprspsaglw
      241 cpvffvyiay tllpirmraa vlsglglstl hlilawqlnr gdaflwkqlg anvllflctn
      301 vigicthypa evsqrqafqe trgyiqarlh lqhenrqqer lllsvlpqhv amemkedint
      361 kkedmmfhki yiqkhdnvsi lfadiegfts lasqctaqel vmtlnelfar fdklaaenhc
      421 lrikilgdcy ycvsglpear adhahccvem gvdmieaisl vrevtgvnvn mrvgihsgrv
      481 hcgvlglrkw qfdvwsndvt lanhmeaggr agrihitrat lqylngdyev epgrggerna
      541 ylkeqhietf lilgasqkrk eekamlaklq rtransmegl mprwvpdraf srtkdskafr
      601 qmgiddsskd nrgtqdalnp edevdeflsr aidarsidql rkdhvrrfll tfqredlekk
      661 ysrkvdprfg ayvacallvf cficfiqlli fphstlmlgi yasiflllli tvlicavysc
      721 gslfpkalqr lsrsivrsra hstavgifsv llvftsaian mftcnhtpir scaarmlnlt
      781 paditachlq qlnyslglda plcegtmptc sfpeyfignm llsllassvf lhissigkla
      841 mifvlgliyl vllllgppat ifdnydlllg vhglassnet fdgldcpaag rvalkymtpv
      901 illvfalaly lhaqqvesta rldflwklqa tgekeemeel qaynrrllhn ilpkdvaahf
      961 larerrndel yyqscecvav mfasianfse fyveleanne gveclrllne iiadfdeiis
     1021 eerfrqleki ktigstymaa sglnastydq vgrshitala dyamrlmeqm khinehsfnn
     1081 fqmkiglnmg pvvagvigar kpqydiwgnt vnvssrmdst gvpdriqvtt dlyqvlaakg
     1141 yqlecrgvvk vkgkgemtty flnggpss
//
LOCUS       XP_054227467            1141 aa            linear   PRI 20-MAR-2023
DEFINITION  ELKS/Rab6-interacting/CAST family member 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054227467
VERSION     XP_054227467.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371492.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1141
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1141
                     /product="ELKS/Rab6-interacting/CAST family member 1
                     isoform X1"
                     /calculated_mol_wt=130981
     CDS             1..1141
                     /gene="ERC1"
                     /gene_synonym="Cast2; ELKS; ERC-1; RAB6IP2"
                     /coded_by="XM_054371492.1:231..3656"
                     /db_xref="GeneID:23085"
                     /db_xref="HGNC:HGNC:17072"
                     /db_xref="MIM:607127"
ORIGIN      
        1 mygsarsvgk vepssqspgr sprlprsprl ghrrtnstgg ssgssvgggs gktlsmeniq
       61 slnaayatsg pmylsdhenv gsetpkstmt lgrsggrlpy gvrmtamgss pniassgvas
      121 dtiafgehhl ppvsmastvp hslrqardnt imdlqtqlke vlrendllrk dvevkeskls
      181 ssmnsiktfw spelkkeral rkdeaskiti wkeqyrvvqe enqhmqmtiq alqdelriqr
      241 dlnqlfqqds ssrtgepcva elteenfqrl haeherqake lfllrktlee melrietqkq
      301 tlnardesik kllemlqskg lsakateedh ertrrlaeae mhvhhlesll eqkekensml
      361 reemhrrfen apdsaktkal qtviemkdsk issmerglrd leeeiqmlks ngalsteere
      421 eemkqmevyr shskfmknkv eqlkeelssk eaqweelkkk aaglqaevfa igqvkqelsr
      481 kdtellalqt kletltnqfs dskqhievlk esltakeqra ailqtevdal rlrleeketm
      541 lnkktkqiqd maeekgtqag eihdlkdmld vkerkvnvlq kkienlqeql rdkekqmssl
      601 kervkslqad ttntdtaltt leealaeker tierlkeqrd rderekqeei dnykkdlkdl
      661 kekvsllqgd lsekeaslld lkehasslas sglkkdsrlk tleialeqkk eeclkmesql
      721 kkaheaalea raspemsdri qhlereitry kdesskaqae vdrlleilke venekndkdk
      781 kiaeleslts rqvkdqnkkv anlkhkeqve kkksaqmlee arrrednlnd ssqqlqdslr
      841 kkddrieele ealresvqit aeremvlaqe esartnaekq llreilhets ylnfkwfkve
      901 ellmamekvk qelesmkakl sstqqslaek ethltnlrae rrkhleevle mkqeallaai
      961 sekdaniall elssskkktq eevaalkrek drlvqqlkqq tqnrmklmad nyeddhfkss
     1021 hsnqtnhkps pdqiiqplle ldqnrsklkl yighlttlch drdplilrgl tppasynldd
     1081 dqaawenelq kmtrgqlqde lekgerdnae lqefanailq qiadhcpdil eqvvnalees
     1141 s
//
LOCUS       XP_054227643             519 aa            linear   PRI 20-MAR-2023
DEFINITION  T-complex protein 11-like protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054227643
VERSION     XP_054227643.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371668.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..519
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..519
                     /product="T-complex protein 11-like protein 2 isoform X1"
                     /calculated_mol_wt=57959
     CDS             1..519
                     /gene="TCP11L2"
                     /coded_by="XM_054371668.1:1185..2744"
                     /db_xref="GeneID:255394"
                     /db_xref="HGNC:HGNC:28627"
                     /db_xref="MIM:619889"
ORIGIN      
        1 mpfngekqcv gedqpsdsds srfsesmasl sdyecsrqsf asdsssksss pastspprvv
       61 tfdevmatar nlsnltlahe iavnenfqlk qealpeksla grvkhivhqa fwdvldseln
      121 adppefehai klfeeireil lsfltpggnr lrnqicevld tdlirqqaeh savdiqglan
      181 yvistmgklc apvrdndire lkatgnivev lrqifhvldl mqmdmanfti mslrphlqrq
      241 lveyertkfq eileetpsal nqttewikes vneelfslse saltpgaent skpslsptlv
      301 lnnsylkllq wdyqkkelpe tlmtdgarlq elteklnqlk iiaclslitn nmvgaitggl
      361 pelasrltri savllegmnk etfnlkevln sigiqtcvev nktlmerglp tlnaeiqanl
      421 igqfssieee dnpiwslidk riklymrrll clpspqkcmp pmpgglaviq qelealgsqy
      481 anivnlnkqv ygpfyanilr kllfneeamg kvdaspptn
//
LOCUS       XP_054228547             444 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear protein MDM1 isoform X5 [Homo sapiens].
ACCESSION   XP_054228547
VERSION     XP_054228547.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372572.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..444
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..444
                     /product="nuclear protein MDM1 isoform X5"
                     /calculated_mol_wt=49844
     CDS             1..444
                     /gene="MDM1"
                     /coded_by="XM_054372572.1:725..2059"
                     /db_xref="GeneID:56890"
                     /db_xref="HGNC:HGNC:29917"
                     /db_xref="MIM:613813"
ORIGIN      
        1 melkdlhqpk rkltpwkhqr lgkvnseyra kflspaqyly kagawthvkg nmpnqgslna
       61 mwyaevkelr ekaefyrkrv qgthfsrdhl nqilsdsncc wdvssttsse gtvssniral
      121 dlagdptshk tlqkcpstep eekgniveeq pqkntteklg vsaptipvrr rlawdtents
      181 edvqkqpgek eeeddneeeg drktgkqafm geqekldvre kskadkmkeg sdssvssekg
      241 grlptpklre lggiqrthhd lttpavggav lvspskmkpp apeqrkrmts qdcletsknd
      301 ftkkesravs lltspaagik tvdplplred sednihkfae atlpvskipk yptnppgqlp
      361 spphvpsywh psrriqgslr dpefqhnvgk armnnlqlpq heafndeded rlseisarsa
      421 asslrafqtl arakkrkenf wgkt
//
LOCUS       XP_054230714            1203 aa            linear   PRI 20-MAR-2023
DEFINITION  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X10 [Homo
            sapiens].
ACCESSION   XP_054230714
VERSION     XP_054230714.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374739.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1203
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1203
                     /product="UDP-glucose:glycoprotein glucosyltransferase 2
                     isoform X10"
                     /calculated_mol_wt=138580
     CDS             1..1203
                     /gene="UGGT2"
                     /gene_synonym="HUGT2; UGCGL2; UGT2"
                     /coded_by="XM_054374739.1:135..3746"
                     /db_xref="GeneID:55757"
                     /db_xref="HGNC:HGNC:15664"
                     /db_xref="MIM:605898"
ORIGIN      
        1 mdvydafsil dmlklegkmm nglrnlging edmskflkln shiweytyvl dirhssimwi
       61 ndlenddlyi twptscqkll kpvfpgsvps irrnfhnlvl fidpaqeytl dfikladvfy
      121 shevplrigf vfilntddev dgandagval wrafnyiaee fdiseafisi vhmyqkvkkd
      181 qniltvdnvk svlqntfpha niwdilgihs kydeerkaga sfykmtglgp lpqalyngep
      241 fkheemnike lkmavlqrmm dasvylqrev flgtlndrtn aidflmdrnn vvprintlil
      301 rtnqqylnli stsvtadved fstfffldsq dksaviaknm yyltqddesi isavtlwiia
      361 dfdkpsgrkl lfnalkhmkt svhsrlgiiy nptskineen taisrgilaa fltqknmflr
      421 sflgqlakee iataiysgdk iktfliegmd knafekkynt vgvnifrthq lfcqdvlklr
      481 pgemgivsng rflgpldedf yaedfyllek itfsnlgeki kgivenmgin annmsdfimk
      541 vdalmssvpk rasrydvtfl renhsviktn pqendmffnv iaivdpltre aqkmaqllvv
      601 lgkiinmkik lfmncrgrls eapleritvi hyepfllmgi fsspscvigq ktgfyrfvle
      661 pelmsgandv sslgpvakfl dipespllil nmitpegwlv etvhsncdld nihlkdtekt
      721 vtaeyeleyl llegqcfdkv teqpprglqf tlgtknkpav vdtivmahhg yfqlkanpga
      781 wilrlhqgks ediyqivghe gtdsqadled iivvlnsfks kilkvkvkke tdkikedilt
      841 dedektkglw dsiksftvsl hkenkkekdv lnifsvasgh lyerflrimm lsvlrntktp
      901 vkfwllknyl sptfkeviph makeygfrye lvqyrwprwl rqqterqrii wgykilfldv
      961 lfplavdkii fvdadqivrh dlkelrdfdl dgapygytpf cdsrremdgy rfwktgywas
     1021 hllrrkyhis alyvvdlkkf rrigagdrlr sqyqalsqdp nslsnldqdl pnnmiyqvai
     1081 kslpqdwlwc etwcddeskq raktidlcnn pktkesklka aarivpewve ydaeirqlld
     1141 hlenkkqdts strsmaasas geasrsfysw wkakqeqvsy iggtgprerr grchtllnnq
     1201 ish
//
LOCUS       XP_054231915             558 aa            linear   PRI 20-MAR-2023
DEFINITION  protein SIX6OS1 isoform X5 [Homo sapiens].
ACCESSION   XP_054231915
VERSION     XP_054231915.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375940.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..558
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..558
                     /product="protein SIX6OS1 isoform X5"
                     /calculated_mol_wt=64557
     CDS             1..558
                     /gene="C14orf39"
                     /gene_synonym="POF18; Six6os1; SPGF52"
                     /coded_by="XM_054375940.1:158..1834"
                     /db_xref="GeneID:317761"
                     /db_xref="HGNC:HGNC:19849"
                     /db_xref="MIM:617307"
ORIGIN      
        1 miqrinkcce dikenkvtic rihetinatd eeidhyckhs eeikdncrnw kptcdvfrkh
       61 edymqdqftv yqgtvekdke myhdyicqyk evlkqyqlky setpfsreyy ekkreheeiq
      121 srvlacteql kmnetifmkf rvpapfpslt kwtlnivnlr cetqdilkha snltksssel
      181 kkevdemeie inylnqqisr hnetkalset leeknknten rkelkerifg kdehvltlnk
      241 tqssqlflpy esqklvrpik mhsseprvad ikeessakqs klanidfrqk endtqifnds
      301 avdnhskcsh ittitssqkf mqvrlltpqk qsnsnqwsek gdkdaeygdk gtvrqvresk
      361 ctsqaiyteh fgksiendsd eveeraenfp rtseipiflg tpkavkapes lekikfpktp
      421 pfeinrnrna vpevqtekes pglsflmsyt srspglnlfd ssvfdteiss dqfnehysar
      481 nlnplsseqe ignllekpeg edgftfsfps dtsthtfgag kddfsfpfsf gqgqnsipss
      541 slkgfssssq nttqftff
//
LOCUS       XP_054170714            1905 aa            linear   PRI 20-MAR-2023
DEFINITION  retinoic acid-induced protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054170714
VERSION     XP_054170714.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314739.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1905
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1905
                     /product="retinoic acid-induced protein 1 isoform X1"
                     /calculated_mol_wt=203112
     CDS             1..1905
                     /gene="RAI1"
                     /gene_synonym="SMCR; SMS"
                     /coded_by="XM_054314739.1:834..6551"
                     /db_xref="GeneID:10743"
                     /db_xref="HGNC:HGNC:9834"
                     /db_xref="MIM:607642"
ORIGIN      
        1 mqsfrercgf hgkqqnyqqt sqetsrleny rqpsqaglsc drqrllakdy ynpqpypsye
       61 ggagtpsgta aavaadkyhr gskalptqqa lqgrpafpgy gvqdsspypg ryageeslqa
      121 wgapqppppq pqplpagvak ydenlmkkta vppsrqyaeq gaqvtfrths lhvqqppppq
      181 qplaypklqr qklqndiasp lpfpqgthfp qhsqsfptss tysssvqggg qgahsyksct
      241 aptaqphdrp ltassslapg qrvqnlhayq sgrlsydqqq qqqqqqqqqq alqsrhhaqe
      301 tlhyqnlaky qhygqqgqgy cqpdaavrtp eqyyqtfsps sshsparsvg rspsysstps
      361 plmpnlenfp ysqqplstga fpagitdhsh fmpllnpspt datssvdtqa gnckplqkdk
      421 lpenllsdls lqsltaltsq venisntvqq lllskaavpq kkgvknlvsr tpeqhksqhc
      481 spegsgysae pagtplsepp sstpqsthae pqeadylsgs edplersfly cnqargspar
      541 vnsnskakpe svstcsvtsp ddmstksdds fqslhgslpl dsfskfvage rdcprlllsa
      601 laqedlasei lglqeaigek adkawaeaps lvkdsskppf slenhsacld svaksawprp
      661 gepealpdsl qldkggnakd fspglfedps vafatpdpkk ttgplsfgtk ptlgvpapdp
      721 ttaafdcfpd ttaassadsa npfawpeenl gdacprwglh pgeltkgleq ggkasdgisk
      781 gdtheasacl gfqeedppge kvaslpgdfk qeevggvkee aggllqcpev akadrwleds
      841 rhccstadfg dlpllpptsr kedleaeeey sslcellgsp eqrpgmqdpl spkaplictk
      901 eeveevldsk agwgspchls gesvillgpt vgteskvqsw fesslshmkp geegpdgera
      961 pgdsttsdas laqkpnkpav peapiakkep vprgkslrsr rvhrglpeae dspcrapvlp
     1021 kdlllpesct gppqgqmega gapgrgaseg lprmctrslt alseprtpgp pgltttpapp
     1081 dklggkqraa fksgkrvgkp spkaasspsn paalpvasds spmgsktket dspstpgkdq
     1141 rsmilrsrtk tqeifhskrr rpsegrlpnc ratkklldns hlpatfkvss spqkegrvsq
     1201 rarvpkpgag sklsdrplha lkrksafmap vptkkrnlvl rsrsssssna sgnggdgkee
     1261 rpegsptlfk rmsspkkakp tkgngepatk lpppetpdac lklasraafq gamktkvlpp
     1321 rkgrglklea ivqkitspsl kkfackapga spgnplspsl sdkdrglkga ggspvgveeg
     1381 lvnvgtgqkl ptsgadplcr nptnrslkgk lmnskklsst dcfkteafts pealqpggta
     1441 lapkkrsrkg ragahglskg plekrpylgp allltprdra sgtqgasedn sggggkkpkm
     1501 eelglasqpp egrpcqpqtr aqkqpghtny ssyskrkrlt rgraknttss pckgrakrrr
     1561 qqqvlpldpa epeirlkyis sckrlrsdsr tpafspfvrv ekrdafttic tvvnspgdap
     1621 kphrkpsssa ssssssssfs ldaagaslat lpggsilqpr pslplsstmh lgpvvskals
     1681 tsclvcclcq npanfkdlgd lcgpyypehc lpkkkpklke kvrpegtcee aslplertlk
     1741 gpecaaaata gkpprpdgpa dpakqgplrt sarglsrrlq scyccdgred ggeeaapadk
     1801 grkhecskea paepggeaqe hwvheacavw tggvylvagk lfglqeamkv avdmmcsscq
     1861 eagatigcch kgclhtyhyp casdagcifi eenfslkcpk hkrlp
//
LOCUS       XP_054170973             970 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF19 isoform X4 [Homo sapiens].
ACCESSION   XP_054170973
VERSION     XP_054170973.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314998.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..970
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..970
                     /product="kinesin-like protein KIF19 isoform X4"
                     /calculated_mol_wt=107910
     CDS             1..970
                     /gene="KIF19"
                     /gene_synonym="KIF19A"
                     /coded_by="XM_054314998.1:125..3037"
                     /db_xref="GeneID:124602"
                     /db_xref="HGNC:HGNC:26735"
                     /db_xref="MIM:619610"
ORIGIN      
        1 mkdsgdskdq qlmvalrvrp isvaeleega tliahkvdeq mvvlmdpmed pddilrahrs
       61 reksylfdva fdftatqemv yqattkslie gvisgynatv faygptgcgk tytmlgtdqe
      121 pgiyvqtlnd lfraieetsn dmeyevsmsy leimqllmkg nrqrtqepta anqtssrsha
      181 vlqvtvrqrs rvknilqevr qgrlfmidla gserasqtqn rgqrmkegah inrsllalgn
      241 cinalsdkgs nkyinyrdsk ltrllkvpat agpghwaprd slggnsrtvm iahispassa
      301 feesrntlty agrakniktr vkqnllnvsy hiaqytsiia dlrgeiqrlk rkideqtgrg
      361 qargrqdrgd irhiqaevql hsgqgekagm gqlreqlasa fqeqmdvrrr llelenrame
      421 vqidtsrhll tiagwkheks rralkwreeq rkecyakdds ekdsdtgddq pdileppeva
      481 aaresiaalv deqkqlrkqk laleqrcrel rargrrleet lprrigseeq revlsllcrv
      541 heleventem qshallrdga lrhrheavrr leqhrslcde iiqgqrqiid adynlavpqr
      601 leelyevylr eleegsleqa timdqvasra lqdsslpkit pagtsltpds dlesvktlss
      661 daqhlqnsal pplstesegh hvfkagtgaw qaksssvptp ppiqlgslvt qeapaqdslg
      721 swinsspdss enlseiplsh kerkeiltgt kciwvkaarr rsralgtegr hllaptters
      781 slslhslseg ddarppgpla ckrppsptlq haasednlss stgeapsrav ghhgdgprpw
      841 lrgqkkslgk kreesleakr rkrrsrsfev tgqglshpkt hllgphqaer isdhrmpvcr
      901 hpapgirhpg kvtlplakvk lppsqntgpg dssplavppn pgggsrratr gprlphgtst
      961 hgkdgcsrhn
//
LOCUS       XP_054171610             356 aa            linear   PRI 20-MAR-2023
DEFINITION  cdc42 effector protein 4 isoform X1 [Homo sapiens].
ACCESSION   XP_054171610
VERSION     XP_054171610.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315635.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..356
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..356
                     /product="cdc42 effector protein 4 isoform X1"
                     /calculated_mol_wt=37849
     CDS             1..356
                     /gene="CDC42EP4"
                     /gene_synonym="BORG4; CEP4; KAIA1777"
                     /coded_by="XM_054315635.1:1249..2319"
                     /db_xref="GeneID:23580"
                     /db_xref="HGNC:HGNC:17147"
                     /db_xref="MIM:605468"
ORIGIN      
        1 mpilkqlvss svhskrrsra dltaemisap lgdfrhtmhv gragdafgdt sflnskagep
       61 dgesldeqps sssskrslls rkfrgskrsq svtrgereqr dmlgslrdsa lfvknamslp
      121 qlnekeaaek gtsklpksls sspvkkandg eggdeeagte eavprrngaa gphspdplld
      181 eqafgdltdl pvvpkatygl khaesimsfh idlgpsmlgd vlsimdkeew dpeegeggyh
      241 gdegaagtit qappyavaap plarqegkag pdlpslpsha ledegwaaaa pspgsarsmg
      301 shttrdsssl ssctsgilee rspafrgpdr araavsrqpd kefsfmdeee edeirv
//
LOCUS       XP_054172424            1489 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-dependent kinase 12 isoform X1 [Homo sapiens].
ACCESSION   XP_054172424
VERSION     XP_054172424.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316449.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1489
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1489
                     /product="cyclin-dependent kinase 12 isoform X1"
                     /calculated_mol_wt=163937
     CDS             1..1489
                     /gene="CDK12"
                     /gene_synonym="CRK7; CRKR; CRKRS"
                     /coded_by="XM_054316449.1:587..5056"
                     /db_xref="GeneID:51755"
                     /db_xref="HGNC:HGNC:24224"
                     /db_xref="MIM:615514"
ORIGIN      
        1 mpnserhggk kdgsggasgt lqpssgggss nsrerhrlvs khkrhkskhs kdmglvtpea
       61 aslgtvikpl veyddissds dtfsddmafk ldrrenderr gsdrsdrlhk hrhhqhrrsr
      121 dllkakqtek eksqevssks gsmkdrisgs skrsneetdd ygkaqvakss skesrssklh
      181 kektrkerel ksghkdrsks hrkretpksy ktvdspkrrs rsphrkwsds skqddspsga
      241 sygqdydlsp srshtssnyd sykkspgsts rrqsvsppyk epsayqsstr spspysrrqr
      301 svspysrrrs ssyersgsys grspspygrr rssspflskr slsrsplprk smksrsrspa
      361 ysrhssshsk kkrsssrsrh ssispvrlpl nsslgaelsr kkkeraaaaa aakmdgkesk
      421 gspvflprke nssveakdsg leskklprsv kleksapdte lvnvthlnte vknssdtgkv
      481 kldensekhl vkdlkaqgtr dskpialkee ivtpketets eketppplpt iaspppplpt
      541 ttpppqtppl pplppipalp qqpplppsqp afsqvpasst stlppsthsk tsavssqans
      601 qppvqvsvkt qvsvtaaiph lktstlpplp lppllpgddd mdspketlps kpvkkekeqr
      661 trhlltdlpl ppelpggdls ppdspepkai tppqqpykkr pkiccpryge rrqtesdwgk
      721 rcvdkfdiig iigegtygqv ykakdkdtge lvalkkvrld nekegfpita ireikilrql
      781 ihrsvvnmke ivtdkqdald fkkdkgafyl vfeymdhdlm gllesglvhf sedhiksfmk
      841 qlmegleych kknflhrdik csnillnnsg qikladfgla rlynseesrp ytnkvitlwy
      901 rppelllgee rytpaidvws cgcilgelft kkpifqanle laqlelisrl cgspcpavwp
      961 dviklpyfnt mkpkkqyrrr lreefsfips aaldlldhml tldpskrcta eqtlqsdflk
     1021 dvelskmapp dlphwqdche lwskkrrrqr qsgvvveepp psktsrkett sgtstepvkn
     1081 sspappqpap gkvesgagda igladitqql nqselavlln llqsqtdlsi pqmaqllnih
     1141 snpemqqqle alnqsisalt eatsqqqdse tmapeeslke apsapvilps aeqttleass
     1201 tpadmqnila vllsqlmktq epagsleenn sdknsgpqgp rrtptmpqee aaacpphilp
     1261 pekrppeppg pppppppppl vegdlssapq elnpavtaal lqllsqpeae ppghlphehq
     1321 alrpmeystr prpnrtygnt dgpetgfsai dtdernsgpa lteslvqtlv knrtfsgsls
     1381 hlgesssyqg tgsvqfpgdq dlrfarvpla lhpvvgqpfl kaegssnsvv haetklqnyg
     1441 elgpgttgas ssgaglhwgg ptqssaygkl yrgptrvppr ggrgrgvpy
//
LOCUS       XP_054174242             434 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box only protein 15 isoform X3 [Homo sapiens].
ACCESSION   XP_054174242
VERSION     XP_054174242.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318267.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..434
                     /product="F-box only protein 15 isoform X3"
                     /calculated_mol_wt=49319
     CDS             1..434
                     /gene="FBXO15"
                     /gene_synonym="FBX15"
                     /coded_by="XM_054318267.1:7053..8357"
                     /db_xref="GeneID:201456"
                     /db_xref="HGNC:HGNC:13617"
                     /db_xref="MIM:609093"
ORIGIN      
        1 mpseillkif syldavsllc tgcvsrrfyh landnfiwig iystafspar snwkfnsvek
       61 iamsmsflsv qdkeagywkk eyitkqiasv kaaladilkp vnpytglpvk tkealrifgl
      121 gwaiilkekg gkeyimehvd lsindtsvtv iwygkkwpcl aslstldlcg mtpvftdwyk
      181 tptkhrlrwh sliakynlsh ltistmigcd rlirifclhp gllvgvwkke eelafvmanl
      241 hfhhlverst lgsatipyel pphspfldds peyglhgyql hvdlhsggvf ylcgtfrnlf
      301 tkrgniengh vklivihlkn nrehlpligk vglswktdif dgcikscsmm dvtlldehgk
      361 pfwcfsspvc lrspatpsds ssflgqtynv dyvdaegrvh velvwirete eylivnlvly
      421 lsiakinhwf gtey
//
LOCUS       XP_054174331            2075 aa            linear   PRI 20-MAR-2023
DEFINITION  microtubule cross-linking factor 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054174331
VERSION     XP_054174331.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318356.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2075
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2075
                     /product="microtubule cross-linking factor 1 isoform X1"
                     /calculated_mol_wt=228301
     CDS             1..2075
                     /gene="MTCL1"
                     /gene_synonym="CCDC165; KIAA0802; SOGA2"
                     /coded_by="XM_054318356.1:109..6336"
                     /db_xref="GeneID:23255"
                     /db_xref="HGNC:HGNC:29121"
                     /db_xref="MIM:615766"
ORIGIN      
        1 metlngpagg gapdaklqpp gqhhrhhhlh pvaerrrlhr apsparpflk dlharpaapg
       61 pavpssgrap apaaprspnl agkappspgs laapgrlsrr sggvpgakdk pppgagaraa
      121 ggakaalgsr raarvapaep lsragkppga eppsaaakgr kvkrgsrapp artvgpptpa
      181 aripavtlav tsvagsparc srishtdsss dlsdcpsepl sdeqrllpaa ssdaesgtgs
      241 sdrepprgap tpspaargap pgspeppall aaplaagacp ggrsipsgvs ggfagpgvae
      301 dvrgrspper pvpgtpkeps lgeqsrlvpa aeeeellrem eelrsendyl kdeldelrae
      361 meemrdsyle edvyqlqelr reldranknc rilqyrlrka eqkslkvaet gqvdgelirs
      421 leqdlkvakd vsvrlhhelk tveekrakae denetlrqqm ieveiskqal qnelerlkes
      481 slkrrstrem ykekktfnqq nggmerpgnc rpatktqrkl aprrkddsad lrcqlqfake
      541 eaflmrkkma klgrekdele qelqkyksly gdvdsplptg eaggppstre aelklrlklv
      601 eeeanilgrk ivelevenrg lkaemedmrg qqeregpgrd hapsiptspf gdslesstel
      661 rrhlqfveee aellrrsise iedhnrqlth elskfkfepp repgwlgega spgagggapl
      721 qeelksarlq iselsgkvlk lqhenhalls niqrcdlaah lglrapsprd sdaesdagkk
      781 esdgeesrlp qpkregpvgg esdseemfek tsgfgsgkps easepcptel lkaredseyl
      841 vtlkheaqrl ertverlitd tdsflhdagl rggaplpgpg lqgeeergeg dqqepqllgt
      901 inakmkafkk elqafleqvn rigdglsplp hltesssfls tvtsvsrdsp ignlgkelgp
      961 dlqsrlkeql ewqlgpargd ereslrlraa relhrradgd tgshglggqt cfslelrgpp
     1021 vlpeqsvsie elqgqlvqaa rlhqeetetf tnkihkmeee hlyalrwkel emhslalqnt
     1081 lhertwsdek nlmqqelrsl kqniflfyvk lrwllkhwrq gkqmeeegee ftegehpetl
     1141 srlgelgvqg ghqadgpdhd sdrgcgfpvg ehsphsrvqi gdhslrlqta drgqphkqvv
     1201 enqqlfsafk alledfrael rederarlrl qqqyasdkaa wdvewavlkc rleqnccgyp
     1261 rinieeetlg ftrlpagstv ktlkslglqr leleektenk lgelgssaes kgalkkerev
     1321 hqklladshs lvmdlrwqih hseknwnrek velldrldrd rqewerqkke flwrieqlqk
     1381 ensprrggsf lcdqkdgnvr pfphqgslrm prpvamwpca dadsipfedr plsklkesdr
     1441 csasenlyld alslddepee ppahrperef rnrlpeeeen hkgnlqravs vssmsefqrl
     1501 mdispflpek glpstssked vtpplspddl kyieefnksw dytpnrghng ggpdlwadrt
     1561 evgragheds tepfpdsswy lttsvtmttd tmtspehcqk qplrshvlte qsglrvlhsp
     1621 pavrrvdsit aaggegpfpt srargspgdt kggppepmls rwpctsprhs rdyvegarrp
     1681 ldsplctslg fasplhslem sknlsddmke vafsvrnaic sgpgelqvkd macqtngsrt
     1741 mgtqtvqtis vglqtealrg sgvtssphkc ltpkagggat pvsspsrslr srqvapaiek
     1801 vqakfertcc spkygspklq rkplpkadqp nnrtspgmaq kgysesawar stttrespvh
     1861 ttindglssl fniidhspvv qdpfqkglra gsrsrsaepr pelgpgqetg tnsrgrspsp
     1921 igvgsemcre eggegtpvkq dlsappgytl tenvarilnk kllehalkee rrqaahgppg
     1981 lhsdshslgd taepgpmeel pcsalapsle pcfsrperpa nrrppsrwap hsptasqpqs
     2041 pgdptsleeh ggeeppeeqp hrdaslhgls qynsl
//
LOCUS       XP_054175449             483 aa            linear   PRI 20-MAR-2023
DEFINITION  SH2 domain-containing protein 3A isoform X4 [Homo sapiens].
ACCESSION   XP_054175449
VERSION     XP_054175449.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319474.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..483
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..483
                     /product="SH2 domain-containing protein 3A isoform X4"
                     /calculated_mol_wt=52271
     CDS             1..483
                     /gene="SH2D3A"
                     /gene_synonym="NSP1"
                     /coded_by="XM_054319474.1:134..1585"
                     /db_xref="GeneID:10045"
                     /db_xref="HGNC:HGNC:16885"
                     /db_xref="MIM:604721"
ORIGIN      
        1 mektllanlg ttascparar kwsnsqpadl ahmgrsredp agmeastmpi salprtssdp
       61 vllkapaplg tvadslrasd gqlqakaptk pprtpsfelp daserpptyc elvprvpsvq
      121 gtspsqscpe peapwweaee deeeenrcft rpqaeisfcp hdapscllgp qnrplepqvl
      181 htlrglfleh hpgstalhll lvdcqatgll gvtrdqrgnm gvssglellt lphghhlrle
      241 llerhqtlal agalavlgcs gpleeraaal rglvelalal rpgaagdlpg laavmgallm
      301 pqvrgeqgle eagvrvtgkt geeacsdlfs qvsrlehtwr qlrrshteaa lafeqelkpl
      361 mraldegagp cdpgevalph vapmvrlleg eevagpldes cerllrtlhg arhmvrdapk
      421 frkvaaqrlr gfrpnpelre alttgfvrrl lwgsrgagap raerfekfqr vlgvlsqrle
      481 pdr
//
LOCUS       XP_054175954             717 aa            linear   PRI 20-MAR-2023
DEFINITION  proline and serine-rich protein 3 isoform X12 [Homo sapiens].
ACCESSION   XP_054175954
VERSION     XP_054175954.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319979.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..717
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..717
                     /product="proline and serine-rich protein 3 isoform X12"
                     /calculated_mol_wt=75082
     CDS             1..717
                     /gene="PROSER3"
                     /gene_synonym="C19orf55"
                     /coded_by="XM_054319979.1:344..2497"
                     /db_xref="GeneID:148137"
                     /db_xref="HGNC:HGNC:25204"
ORIGIN      
        1 mwaspaptli dsgdsvvaky inrfrqaqpt sreerqpagp tpadfwwlqs dspdpssqsa
       61 aagankpegr phtavptavn vtsashavap lqeikqnlht wnsslldlet lslqsraarl
      121 lkrskasiss ssslspsdas tssfptssdg lspfsetfip dsskglgpra paspapaqaq
      181 tptpapapas sqaplrpedd ilyqwrqrrk leqaqgskgd rawvppltpa lrtlislicl
      241 qtspapvetl sslgtqpnhv plwssvaqpg ppeafyverp pfpsvssphi fwapsshgff
      301 wapqsgpwvs lgavpptqqa stlahlgstl appaslastl eppastpapl astlappast
      361 paplactpap pastlaspav pqglpipdps scaqpkslgp ksrrsraprp eaaeqvpaag
      421 qgpgpqlrgv lgqvvaarlf pdsledtpph fegppppkag spkvqatqpq tkvtpppses
      481 qcrakaeslk akalppaags virkseatps pgaclqpevp lspaeqattv kasppafqvg
      541 spealapppp aadhapseal laqaalllqa aedsdgsefq ddpvlqvlra hraelsrqks
      601 ywlsvrkglf gkakgscqfk emppilrcpm alpcppplpd hgnkisflvi sslgqrefqt
      661 rllarlgptl sgftqepwlk wtkglpstee atrvirvldd gqaiahtcls sssiwcs
//
LOCUS       XP_054176045             834 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 780B isoform X1 [Homo sapiens].
ACCESSION   XP_054176045
VERSION     XP_054176045.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320070.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..834
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..834
                     /product="zinc finger protein 780B isoform X1"
                     /calculated_mol_wt=96747
     CDS             1..834
                     /gene="ZNF780B"
                     /gene_synonym="ZNF779"
                     /coded_by="XM_054320070.1:317..2821"
                     /db_xref="GeneID:163131"
                     /db_xref="HGNC:HGNC:33109"
ORIGIN      
        1 mvhgsvtfrd vaidfsqeew eclqpdqrtl yrdvmlenys hlislagssi skpdvitlle
       61 qekepwivvs ketsrwypdl eskygpekis pendifeinl pkhvikqisk tlgleafyfr
      121 ndseyrsrfe grqghqegyi nqkiisyeem paythaspih nthkpyecke cgkyfscgsn
      181 liqhqsihtg ekpykckecg kafqlhiqlt rhqkfhtgek tfeckecgka fnlptqlnrh
      241 knihtvkklf eckecgksfn rssnltqhqs ihagvkpyqc kecgkafnrg snliqhqkih
      301 snekpfvcre cemafryhyq liehcrihtg ekpfeckecr kaftlltklv rhqkihmgek
      361 pfecrecgka fsllnqlnrh knihtgekpf eckecgksfn rssnliqhqs ihadvkpyec
      421 kecgkgfnrg anliqhqkih snekpfvcre cemafryhyq liqhcqihtg gkpfeckecg
      481 kafslltqla rhknihtgek pfeckdcgka fnrgsnlvqh qsihtgekpy eckecgkafr
      541 lhlqlsqhek thtgekpfec kecgkffrrg snlnqhrsih tgkkpfecke cgkafrlhmh
      601 lirhqkfhtg ekpfeckecg kafslhtqln hhknihtgek pfkckecgks fnrvsnlvqh
      661 qsihagvkpy eckecgkgfs rvsnliqhqk thssakpfvc kecrktfryh yqltehyrih
      721 tgekpfecke cgkafglltq laqhqiihtg ekpfkckecg kafnrgsnlv qpqsihtgek
      781 pyeckecgka frlhlqlslh qklvqvrnpl nvrnvgqpsd issnllnirk filg
//
LOCUS       XP_054181757             591 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 157 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054181757
VERSION     XP_054181757.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325782.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..591
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..591
                     /product="coiled-coil domain-containing protein 157
                     isoform X6"
                     /calculated_mol_wt=66103
     CDS             1..591
                     /gene="CCDC157"
                     /coded_by="XM_054325782.1:675..2450"
                     /db_xref="GeneID:550631"
                     /db_xref="HGNC:HGNC:33854"
                     /db_xref="MIM:619391"
ORIGIN      
        1 mahllgsqac meslrtdltd lqgaivdvfs ragpvrfpsw kfpdrmacdl dmvallehyd
       61 hvpgdpeftq lshavllelv idrlllllqs cmsylenlgs eqmmppaqaa gpcmsvgltv
      121 rrfwdsllrl gtlhqqplpq kganqretpt skpttkgepa rspeylttkl ikpsspvlgl
      181 pqtcqepesi pvraslqfpa ttfkntrsvh sqtietalvp cdacasvqgs lqkvgkvvis
      241 lcqsqnlpss lgqfqqlvqd smglrplpaa tvgrwaaeqr kdltrlskhv ealraqleea
      301 egqkdglrkq agkleqalkq eqgarrrqae edeqclsewe hdkqqlltet sdlktkmatl
      361 erelkqqres tqaveakaqq lqeegerraa aerqvqqlee qvqqleaqvq llvgrlegag
      421 qqvcwastel dkekarvdsm vrhqeslqak qrallkqlds ldqereelrg sldeaeaqra
      481 rveeqlqser eqgqcqlraq qellqslqre kqgleqattd lrltileler eleelkerer
      541 llvafpdlhr ptetqihadp agpalvpfqq gnpgsnttsp gqehiprvsl l
//
LOCUS       XP_054203025             606 aa            linear   PRI 20-MAR-2023
DEFINITION  anoctamin-10 isoform X7 [Homo sapiens].
ACCESSION   XP_054203025
VERSION     XP_054203025.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347050.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..606
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..606
                     /product="anoctamin-10 isoform X7"
                     /calculated_mol_wt=70074
     CDS             1..606
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /coded_by="XM_054347050.1:115..1935"
                     /db_xref="GeneID:55129"
                     /db_xref="HGNC:HGNC:25519"
                     /db_xref="MIM:613726"
ORIGIN      
        1 mkvtlsaldt sessftplvv ielaqdvkee tkewlknrii akkkdggaql lfrpllnkye
       61 qetlenqnly lvgaskirml lgaeavglvk ecndntmraf tyrtrqnfkg fddnnddflt
      121 maecqfiikh elenlrakde kmipgypqak lypgksllrr lltsgiviqv fplhdsealk
      181 kledtwytrf alkyqpidsi rgyfgetial yfgfleyftf alipmavigl pyylfvwedy
      241 dkyvifasfn liwstvilel wkrgcanmty rwgtllmkrk feeprpgfhg vlginsitgk
      301 eeplypsykr qlriylvslp fvclclyfsl yvmmiyfdme vwalglhens gsewtsvlly
      361 vpsiiyaivi eimnrlyrya aefltswenh rlesayqnhl ilkvlvfnfl ncfaslfyia
      421 fvlkdmkllr qslatllits qilnqimesf lpywlqrkhg vqvkrkvqal kadidatlye
      481 qvilekemgt ylgtfddyle lflqfgyvsl fscvyplaaa favlnnftev nsdalkmcrv
      541 fkrpfsepsa nigvwqlafe tmsvisvvtn caligmspqv navfpeskad lilivvavef
      601 lkmelr
//
LOCUS       XP_054204422             624 aa            linear   PRI 20-MAR-2023
DEFINITION  actin-related protein 8 isoform X1 [Homo sapiens].
ACCESSION   XP_054204422
VERSION     XP_054204422.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348447.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..624
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..624
                     /product="actin-related protein 8 isoform X1"
                     /calculated_mol_wt=70353
     CDS             1..624
                     /gene="ACTR8"
                     /gene_synonym="ARP8; hArp8; INO80N"
                     /coded_by="XM_054348447.1:52..1926"
                     /db_xref="GeneID:93973"
                     /db_xref="HGNC:HGNC:14672"
                     /db_xref="MIM:619716"
ORIGIN      
        1 mtqaekgdte ngkekggeke keqrgvkrpi vpalvpeslq eqiqsnfiiv ihpgsttlri
       61 gratdtlpas iphviarrhk qqgqplykds wllreglnkp esneqrqngl kmvdqaiwsk
      121 kmsngtrrip vspeqarsyn kqmrpaildh csgnkwtnts hhpeylvgee alyvnpldcy
      181 nihwpirrgq lnihpgpggs ltavladiev iwshaiqkyl eiplkdlkyy rcillipdiy
      241 nkqhvkelvn milmkmgfsg ivvhqesvca tygsglsstc ivdvgdqkts vccvedgvsh
      301 rntrlclayg gsdvsrcfyw lmqragfpyr ecqltnkmdc lllqhlketf chldqdisgl
      361 qdhefqirhp dspallyqfr lgdeklqapm alfypatfgi vgqkmttlqh rsqgdpedph
      421 dehyllatqs kqeqsakata drksaskpig fegdlrgqss dlperlhsqe vdlgsaqgdg
      481 lmagndseea ltalmsrkta islfegkalg ldkailhsid ccssddtkkk myssilvvgg
      541 glmfhkaqef lqhrilnkmp psfrriienv dvitrpkdmd prliawkgga vlacldttqe
      601 lwiyqrewqr fgvrmlrera afvw
//
LOCUS       XP_054206272             539 aa            linear   PRI 20-MAR-2023
DEFINITION  GPI ethanolamine phosphate transferase 2 isoform X12 [Homo
            sapiens].
ACCESSION   XP_054206272
VERSION     XP_054206272.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350297.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..539
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..539
                     /product="GPI ethanolamine phosphate transferase 2 isoform
                     X12"
                     /calculated_mol_wt=58861
     CDS             1..539
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /coded_by="XM_054350297.1:127..1746"
                     /db_xref="GeneID:54872"
                     /db_xref="HGNC:HGNC:25985"
                     /db_xref="MIM:616918"
ORIGIN      
        1 mrlgsgtfat ccvaievlgi avflrgffpa pvrssaraeh gaeppapeps agassnwttl
       61 ppplfskvvi vlidalrddf vfgskgvkfm pyttylvekg ashsfvaeak pptvtmprik
      121 almtgslpgf vdvirnlnsp alledsvirq akaagkrivf ygdetwvklf pkhfveydgt
      181 tsffvsdyte vdnnvtrhld kvlkrgdwdi lilhylgldh ighisgpnsp ligqklsemd
      241 svlmkihtsl qskeretplp nllvlcgdhg msetgshgas steevntpli lissaferkp
      301 gdirhpkhvq qtdvaatlai alglpipkds vgsllfpvve grpmreqlrf lhlntvqlsk
      361 llqenvpsye kdpgfeqfkm serlhgnwir lyleekhsev lfnlgskvlr qyldalktls
      421 lslsaqvaqy diysmmvltl lllsvpqalr rkaelevpls spgfsllfyl vilvlsavhv
      481 ivctsaessc yfcglswlaa ggvmvlasal lcvivsvltn vlvggntprk aafrlpdsg
//
LOCUS       XP_054206353             676 aa            linear   PRI 20-MAR-2023
DEFINITION  Bardet-Biedl syndrome 7 protein isoform X4 [Homo sapiens].
ACCESSION   XP_054206353
VERSION     XP_054206353.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350378.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..676
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..676
                     /product="Bardet-Biedl syndrome 7 protein isoform X4"
                     /calculated_mol_wt=75806
     CDS             1..676
                     /gene="BBS7"
                     /gene_synonym="BBS2L1"
                     /coded_by="XM_054350378.1:162..2192"
                     /db_xref="GeneID:55212"
                     /db_xref="HGNC:HGNC:18758"
                     /db_xref="MIM:607590"
ORIGIN      
        1 mdlilnrmdy lqvgvtsqkt mklipasrhr atqkvvigdh dgvvmcfgmk kgeaaavfkt
       61 lpgpkiarle lggvintpqe kifiaaasei rgftkrgkqf lsfetnltes ikamhisgsd
      121 lflsasyiyn hycdckdqhy ylsgdkindv iclpverlsr itpvlacqdr vlrvlqgsdv
      181 myavevpgpp tvlalhngng gnqdfifhks tmcfnigdsg edllfgtsdg klaliqitts
      241 kpvrkweiqn ekkrggilci dsfdivgdgv kdllvgrddg mvevysfdna nepvlrfdqm
      301 lsesvtsiqg gcvgkdsyde ivvstysgwv tglttepihk esgpgeelki nqemqnkiss
      361 lrnelehlqy kvlqerenyq qssqsskaks avpsfgindk ftlnkddasy slilevqtai
      421 dnvliqsdvp idlldvdkns avvsfsscds esndnfllat yrcqadttrl elkirsiegq
      481 ygtlqayvtp riqpktcqvr qyhikplslh qrthfidhdr kgegvfksdn istisilkdv
      541 lskeatkrki nlnisyeine vsvkhtlkli hpkleyqlll akkvqlidal kelqihegnt
      601 nflipeyhci leeadhlqee ykkqpahler lygmitdlfi dkfkfkgtnv ktkvplllei
      661 ldsydqnali sffdaa
//
LOCUS       XP_054207152             834 aa            linear   PRI 20-MAR-2023
DEFINITION  prominin-1 isoform X5 [Homo sapiens].
ACCESSION   XP_054207152
VERSION     XP_054207152.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351177.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..834
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..834
                     /product="prominin-1 isoform X5"
                     /calculated_mol_wt=93561
     CDS             1..834
                     /gene="PROM1"
                     /gene_synonym="AC133; CD133; CORD12; MCDR2; MSTP061;
                     PROML1; RP41; STGD4"
                     /coded_by="XM_054351177.1:278..2782"
                     /db_xref="GeneID:8842"
                     /db_xref="HGNC:HGNC:9454"
                     /db_xref="MIM:604365"
ORIGIN      
        1 malvlgslll lglcgnsfsg gqpsstdapk awnyelpatn yetqdshkag pigilfelvh
       61 iflyvvqprd fpedtlrkfl qkayeskidy dkpetvilgl kivyyeagii lccvlgllfi
      121 ilmplvgyff cmcrccnkcg gemhqrqken gpflrkcfai sllviciiis igifygfvan
      181 hqvrtrikrs rkladsnfkd lrtllnetpe qikyilaqyn ttkdkaftdl nsinsvlggg
      241 ildrlrpnii pvldeiksma taiketkeal enmnstlksl hqqstqlsss ltsvktslrs
      301 slndplclvh pssetcnsir lslsqlnsnp elrqlppvda eldnvnnvlr tdldglvqqg
      361 yqslndipdr vqrqtttvva gikrvlnsig sdidnvtqrl piqdilsafs vyvnntesyi
      421 hrnlptleey dsywwlgglv icslltlivi fyylgllcgv cgydrhatpt trgcvsntgg
      481 vflmvgvgls flfcwilmii vvltfvfgan veklicepyt skelfrvldt pyllnedwey
      541 ylsgklfnks kmkltfeqvy sdckknrgty gtlhlqnsfn isehlnineh tgsisseles
      601 lkvnlnifll gaagrknlqd faacgidrmn ydsylaqtgk spagvnllsf aydleakans
      661 lppgnlrnsl krdaqtikti hqqrvlpieq slstlyqsvk ilqrtgngll ervtrilasl
      721 dfaqnfitnn tssviieetk kygrtiigyf ehylqwiefs isekvasckp vataldtavd
      781 vflcsyiidp lnlfwfgigk atvfllpali favklakyyr rmdsedvydd psqh
//
LOCUS       XP_054207441            1045 aa            linear   PRI 20-MAR-2023
DEFINITION  adenylate cyclase type 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054207441
VERSION     XP_054207441.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351466.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1045
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1045
                     /product="adenylate cyclase type 2 isoform X2"
                     /calculated_mol_wt=118330
     CDS             1..1045
                     /gene="ADCY2"
                     /gene_synonym="AC2; HBAC2"
                     /coded_by="XM_054351466.1:160..3297"
                     /db_xref="GeneID:108"
                     /db_xref="HGNC:HGNC:233"
                     /db_xref="MIM:103071"
ORIGIN      
        1 mwqeamrrrr ylrdrseeaa gggdglprsr dwlyesyycm sqqhplivfl llivmgscla
       61 llavffalgl evedhvafli tvptalaiff aifilvcies vfkkllrlfs lviwiclvam
      121 gylfmcfggt vspwdqvsff lfiifvvytm lpfnmrdaii asvltsssht ivlsvclsat
      181 pggkehlvwq ilanviific gnlagayhkh lmelalqqty qdtcnciksr iklefekrqq
      241 erlllsllpa hiamemkaei iqrlqgpkag qmentnnfhn lyvkrhtnvs ilyadivgft
      301 rlasdcspge lvhmlnelfg kfdqiakene cmrikilgdc yycvsglpis lpnhakncvk
      361 mgldmceaik kvrdatgvdi nmrvgvhsgn vlcgviglqk wqydvwshdv tlanhmeagg
      421 vpgrvhissv tlehlngayk veegdgdird pylkqhlvkt yfvinpkger rspqhlfrpr
      481 htldgakmra svrmtryles wgaakpfahl hhrdsmtten gkisttdvpm gqhnfqnrtl
      541 rtksqkkrfe eelnermiqa idginaqkqw lksediqris llfynkvlek eyratalpaf
      601 kyyvtcacli ffcifivqil vlpktsvlgi sfgaafllla filfvcfagq llfflsdsee
      661 tipptanttn tsfsasnnqv ailraqnlff lpyfiyscil gliscsvflr vnyelkmlim
      721 mvalvgynti llhthahvlg dysqvlferp giwkdlktmg svslsiffit llvlgrqney
      781 ycrldflwkn kfkkereeie tmenlnrvll envlpahvae hflarslkne elyhqsydcv
      841 cvmfasipdf kefytesdvn kegleclrll neiiadfddl lskpkfsgve kiktigstym
      901 aatglsavps qehsqeperq ymhigtmvef afalvgklda inkhsfndfk lrvginhgpv
      961 iagvigaqkp qydiwgntvn vasrmdstgv ldkiqvteet slvlqtlgyt ctcrgiinvk
     1021 gkgdlktyfv ntemsrslsq snvas
//
LOCUS       XP_054207759             188 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 25 member 48 isoform X12 [Homo sapiens].
ACCESSION   XP_054207759
VERSION     XP_054207759.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351784.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..188
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..188
                     /product="solute carrier family 25 member 48 isoform X12"
                     /calculated_mol_wt=20181
     CDS             1..188
                     /gene="SLC25A48"
                     /coded_by="XM_054351784.1:186..752"
                     /db_xref="GeneID:153328"
                     /db_xref="HGNC:HGNC:30451"
                     /db_xref="MIM:616150"
ORIGIN      
        1 mgsfqledfa agwiggaasv ivghpldtvk trlqagvgyg ntlscirvvy rresmfgffk
       61 gmsfplasia vynsvvfgvf sntqrflsqh rcgepeaspp rtlsdlllas mvagvvsvgl
      121 ggpvdlikir lqmqtqpfrd gvfqrhhcer gaglphecgh vpwvravaag yprgprsdep
      181 isarvssh
//
LOCUS       XP_054208082            2873 aa            linear   PRI 20-MAR-2023
DEFINITION  PDZ domain-containing protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054208082
VERSION     XP_054208082.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352107.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2873
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2873
                     /product="PDZ domain-containing protein 2 isoform X1"
                     /calculated_mol_wt=305355
     CDS             1..2873
                     /gene="PDZD2"
                     /gene_synonym="AIPC; PAPIN; PDZK3; PIN1"
                     /coded_by="XM_054352107.1:771..9392"
                     /db_xref="GeneID:23037"
                     /db_xref="HGNC:HGNC:18486"
                     /db_xref="MIM:610697"
ORIGIN      
        1 mpitqdnavl hlpllyqwlq nslqeggdgp eqrlcqaaiq klqeyiqlnf avdestvppd
       61 hsppemeict vyltkelgdt etvglsfgni pvfgdygekr rggkkrkthq gpvldvgciw
      121 vtelrknspa gksgkvrlrd eilslngqlm vgvdvsgasy laeqcwnggf iylimlrrfk
      181 hkahstyngn ssnssepget ptlelgdrta kkgkrtrkfg visrppanka peeskgsagc
      241 evssdpstel engpdpelgn ghvfqlengp dslkevagph lersevdrgt ehripktdap
      301 lttsndkrrf skggktdfqs sdclareevg riwkmellke sdglgiqvsg grgskrspha
      361 ivvtqvkegg aahrdgrlsl gdellvingh llvglsheea vailrsatgm vqlvvasken
      421 saedllrlts kslpdltssv edvsswtdne dqeadgeede gtsssvqram pgtdepqdvc
      481 gaeeskgnle spkqgsnkik lksrlsggvh rlesveeyne lmvrngdpri rmlevsrdgr
      541 khslpqllds ssasqeyhiv kkstrslstt qvespwrlir psvisiigly kekgkglgfs
      601 iaggrdcirg qmgifvktif pngsaaedgr lkegdeildv ngipikgltf qeaihtfkqi
      661 rsglfvltvr tklvspsltp cstpthmsrs aspnfntsgg asaggsdegs ssslgrktpg
      721 pkdrivmevt lnkeprvglg igacclalen sppgiyihsl apgsvakmes nlsrgdqile
      781 vnsvnvrhaa lskvhailsk cppgpvrlvi grhpnpkvse qemdeviars tyqeskeans
      841 spglgtplks pslakkdsli seselsqyfa hdvpgplsdf mvagsededh pgsgcstsee
      901 gslppststh kepgkprans lvtlgshras glfhkqvtva rqaslpgspq alrnpllrqr
      961 kvgcydanda sdeeefdreg dcislpgalp gpirplsedd prrvsisssk gmdvhnqeer
     1021 prktlvskai sapllgssvd leesipegmv daasyaanlt dsaeapkgsp gswwkkelsg
     1081 sssapkleyt vrtdtqsptn tgspsspqqk seglgsrhrp varvsphckr seaeakpsgs
     1141 qtvnltgran dpcdldsrvq atsvkvtvag fqpggaveke slgklttgda cvstscelas
     1201 alshldashl tenlpkaase lgqqpmteld sssdlisspg kkgaahpdps ktsvdtgqvs
     1261 rpenpsqpas prvtkckars pvrlphegsp spgekaaapp dysktrsase tstphntrrv
     1321 aalrgagpga egmtpagavl pgdpltsqeq rqgapgnhsk alemtgihap essqepslle
     1381 gadsvssrap qaslsmlpst dntkeacghv sghccpggsr espvtdidsf ikeldasaar
     1441 spssqtgdsg sqegsaqghp pagagggssc raepvpggqt ssprrawaag apaypqwasq
     1501 psvldsinpd khftvnknfl snysrnfssf hedstslsgl gdstepslss mygdaedsss
     1561 dpeslteapr asardgwspp rsrvslhked pseseeeqie icstrgcpnp psspahlptq
     1621 aaicpasakv lslkystpre svasprekaa clpgsytsgp dssqpsslle mssqehetha
     1681 distsqnhrp scaeettevt sassamensp lskvarhfhs ppiilsspnm vnglehdlld
     1741 detlnqyets inaaaslssf svdvpknges vlenlhises qdlddllqkp kmiarrpima
     1801 wfkeinkhnq gthlrsktek eqplmparsp dskiqmvsss qkkgvtvphs ppqpktnlen
     1861 kdlskkspae mlltngqkak cgpklkrlsl kgkakvnsea paanavkagg tdhrkplisp
     1921 qtshktlska vsqrlhvadh edpdrnttaa prspqcvles kpplatsgpl kpsvsdtsir
     1981 tfvspltspk pvpeqgmwsr fhmavlsepd rgcpttpksp kcraegrapr adsgpvspaa
     2041 srngmsvagn rqseprlash vaadtaqprp tgekggnima sdrlertnql kiveisaeav
     2101 setvcgnkpa esdrrggcla qgncqeksei rlyrqvaess tshpsslpsh asqaeqemsr
     2161 sfsmaklass ssslqtairk aeysqgkssl msdsrgvprn sipggpsged hlyftprpat
     2221 rtysmpaqfs shfgreghpp hslgrsrdsq vpvtssvvpe akasrgglps langqgiysv
     2281 kplldtsrnl patdegdiis vqetsclvtd kikvtrrhyc yeqnwphest sffsvkqrik
     2341 sfenlanadr pvaksgaspf lsvsskppig rrssgsivsg slghpgdaaa rllrrslssc
     2401 senqseagtl lpqmakspsi mtltisrqnp petsskgsds elkkslgplg iptptmtlas
     2461 pvkrnkssvr htqpspvsrs klqelralsm pdldklcsed ysagpsavlf kteleitprr
     2521 spgppaggvs cpekggnrac pggsgpktsa aetpssasdt geaaqdlpfr rswsvnldql
     2581 lvsagdqqrl qsvlssvgsk stiltliqea kaqseneedv cfivlnrkeg sglgfsvagg
     2641 tdvepksitv hrvfsqgaas qegtmnrgdf llsvngasla glahgnvlkv lhqaqlhkda
     2701 lvvikkgmdq prpsarqepp tangkgllsr ktiplepgie nteqrmqvqq qhsqegspri
     2761 grptvllgss avirrsvavh dalcvevlkt saglglsldg gkssvtgdgp lvikrvykgg
     2821 aaeqagiiea gdeilaingk plvglmhfda wnimksvpeg pvqllirkhr nss
//
LOCUS       XP_054208588             473 aa            linear   PRI 20-MAR-2023
DEFINITION  myocyte-specific enhancer factor 2C isoform X1 [Homo sapiens].
ACCESSION   XP_054208588
VERSION     XP_054208588.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352613.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..473
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..473
                     /product="myocyte-specific enhancer factor 2C isoform X1"
                     /calculated_mol_wt=51090
     CDS             1..473
                     /gene="MEF2C"
                     /gene_synonym="C5DELq14.3; DEL5q14.3; NEDHSIL"
                     /coded_by="XM_054352613.1:160..1581"
                     /db_xref="GeneID:4208"
                     /db_xref="HGNC:HGNC:6996"
                     /db_xref="MIM:600662"
ORIGIN      
        1 mgrkkiqitr imdernrqvt ftkrkfglmk kayelsvlcd ceialiifns tnklfqyast
       61 dmdkvllkyt eynephesrt nsdivetlrk kglngcdspd pdaddsvghs pesedkyrki
      121 nedidlmisr qrlcavpppn fempvsipvs shnslvysnp vsslgnpnll plahpslqrn
      181 smspgvthrp psagntgglm ggdltsgagt sagngygnpr nspgllvspg nlnknmqaks
      241 pppmnlgmnn rkpdlrvlip pgskntmpsv sedvdlllnq rinnsqsaqs latpvvsvat
      301 ptlpgqgmgg ypsaisttyg teyslssadl sslsgfntas alhlgsvtgw qqqhlhnmpp
      361 salsqlgact sthlsqssnl slpstqslni ksepvspprd rtttpsrypq htrheagrsp
      421 vdslsscsss ydgsdredhr nefhspiglt rpspderesp svkrmrlseg wat
//
LOCUS       XP_054211332            1294 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Jumonji isoform X2 [Homo sapiens].
ACCESSION   XP_054211332
VERSION     XP_054211332.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355357.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1294
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1294
                     /product="protein Jumonji isoform X2"
                     /calculated_mol_wt=144101
     CDS             1..1294
                     /gene="JARID2"
                     /gene_synonym="DIDDF; JMJ"
                     /coded_by="XM_054355357.1:472..4356"
                     /db_xref="GeneID:3720"
                     /db_xref="HGNC:HGNC:6196"
                     /db_xref="MIM:601594"
ORIGIN      
        1 mskerpkrni iqkkyvnirs aflhntkaks ltqatdgtli rlakkvpfwl tkrmllktyc
       61 ahqddsdgip wseervvrkv lylslkefkn sqkrqhaegi agslktvngl lgndqskglg
      121 paseqsenek ddasqvssts ndvsssdfee gpsrkrprlq aqrkfaqsqp nspsttpvki
      181 vepllpppat qisdlskrkp ktedfltflc lrgspalpns mvyfgssqde eeveeeddet
      241 edvktatnna ssscqstprk gkthkhvhng hvfngssrst rekepvqkhk skeatpakek
      301 hsdhradsrr eqasanhpaa apstgssakg laathhhppl hrsaqdlrkq vskvngvtrm
      361 sslgagvtsa kkmrevrpsp sktvkytatv tkgavtytka krelvkdtkp nhhkpssavn
      421 htisgktess naktrkqvls lggaskstgp avnglkvsgr lnpksctkev ggrqlreglq
      481 lreglrnskr rleeahqaek pqsppkkmkg aagpaegpgk kapaerglln ghvkkevper
      541 slernrpkra tagkstpgrq ahgkadsasc enrstsqpes vhkpqdsgka ekgggkagwa
      601 amdeipvlrp sakefhdpli yiesvraqve kfgmcrvipp pdwrpeckln demrfvtqiq
      661 hihklgrrwg pnvqrlacik khlksqgitm delpliggce ldlacffrli nemggmqqvt
      721 dlkkwnklad mlriprtaqd rlaklqeayc qyllsydsls peehrrleke vlmekeilek
      781 rkgpleghte ndhhkfhplp rfepknglih gvaprngfrs klkevgqaql ktgrrrlfaq
      841 ekevvkeeee dkgvlndfhk ciykgrsvsl ttfyrtarni msmcfskepa paeieqeywr
      901 lveekdchva vhcgkvdtnt hgsgfpvgks epfsrhgwnl tvlpnntgsi lrhlgavpgv
      961 tipwlnigmv fstscwsrdq nhlpyidylh tgadciwyci paeeenkled vvhtllqang
     1021 tpglqmlesn vmispevlck egikvhrtvq qsgqfvvcfp gsfvskvccg ysvsetvhfa
     1081 ttqwtsmgfe takemkrrhi akpfsmekll yqiaqaeakk engptlstis alldelrdte
     1141 lrqrrqlfea glhssarygs hdgsstvadg kkkprkwlql etserrcqic qhlcylsmvv
     1201 qenenvvfcl ecalrhvekq kscrglklmy rydeeqiisl vnqicgkvsg kngsiencls
     1261 kptpkrgprk ratvdvppsr lsassssksa ssss
//
LOCUS       XP_054212922             611 aa            linear   PRI 20-MAR-2023
DEFINITION  ras GTPase-activating protein 4B isoform X3 [Homo sapiens].
ACCESSION   XP_054212922
VERSION     XP_054212922.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356947.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..611
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..611
                     /product="ras GTPase-activating protein 4B isoform X3"
                     /calculated_mol_wt=68413
     CDS             1..611
                     /gene="RASA4B"
                     /coded_by="XM_054356947.1:185..2020"
                     /db_xref="GeneID:100271927"
                     /db_xref="HGNC:HGNC:35202"
ORIGIN      
        1 mealcveawd wdlvsrndfl gkvvidvqrl rvvqqeegwf rlqpdqsksr rhdegnlgsl
       61 qlevrlrdet vlpssyyqpl vhllchevkl gmqgpgqlip lieettstec rqdvatnllk
      121 lflgqglakd fldllfqlel srtsetntlf rsnslasksv esflkvagmq ylhgvlgpii
      181 nkvfeekkyv eldpskvevk dvgcsglhrp qteaevleqs aqtlrahlga llsalsrsvr
      241 acpavvratf rqlfrrvrer fpgaqhenvp fiavtsflcl rffspaimsp klfhlrerha
      301 dartsrtlll lakavqnvgn mdtpasrake awmeplqptv rqgvaqlkdf itklvdieek
      361 deldlqrtls lqappvkegp lfihrtkgkg plmsssfkkl yfsltteals faktpsskks
      421 aliklanira aekveeksfg gshvmqiiyt ddagrpqtay lqckcvneln qwlsalrkvs
      481 inntgllgsy hpgvfrgdkw scchqkektg qgcdktrsrv tlqewndpld hdleaqliyr
      541 hllgveamlw erhrelsgga eagtvptspg kvpedslarl lrvlqdlrea hssspagspp
      601 sepncllelq t
//
LOCUS       XP_054213668             702 aa            linear   PRI 20-MAR-2023
DEFINITION  IQ domain-containing protein E isoform X2 [Homo sapiens].
ACCESSION   XP_054213668
VERSION     XP_054213668.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357693.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..702
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..702
                     /product="IQ domain-containing protein E isoform X2"
                     /calculated_mol_wt=77845
     CDS             1..702
                     /gene="IQCE"
                     /gene_synonym="1700028P05Rik; PAPA7"
                     /coded_by="XM_054357693.1:274..2382"
                     /db_xref="GeneID:23288"
                     /db_xref="HGNC:HGNC:29171"
                     /db_xref="MIM:617631"
ORIGIN      
        1 mvgspagave lqclplflqg ddslsavtfd sdvetkakrk afhkppptsp kspylskprk
       61 vaswrslrta gsmplggras ltpqklwlgt akpgsltqal nspltwehaw tgvpggtpdc
      121 ltdtfrvkrp hlrrsasngh vpgtpvyrek edmydeiiel kkslhvqksd vdlmrtklrr
      181 leeensrkdr qieqlldpsr gtdfvrtlae krpdaswvin glkqrilkle qqckekdgti
      241 sklqtdmktt nleemriame tyyeevhrlq tllassettg kkplgekktg akrqkkmgsa
      301 llslsrsvqe lteenqslke dldrvlstsp tisktqgyve wskprllrri velekklsvm
      361 esskshaaep vrshppacla sssalhrqpr gdrnkdherl rgavrdlkee rtalqeqllq
      421 rdlevkqllq akadlekele caregeeerr ereevlreei qtltsklqel qemkkeeked
      481 cpevphkaqe lpaptpssrh ceqdwppdss eeglprprsp csdgrrdaaa rvlqaqwkvy
      541 khkkkkavld eavvvlqaaf rghltrtkll askahgsepp svpglpdqss pvprvpspia
      601 qaagspvqee aiviiqsalr ahlararhsa tgkrtttaas tkrrsasath gdassppfla
      661 alpdpspsgp qavaplpgdd vnsddsddiv iapslptknf pv
//
LOCUS       XP_054214107             191 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 86 isoform X12 [Homo sapiens].
ACCESSION   XP_054214107
VERSION     XP_054214107.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358132.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..191
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..191
                     /product="WD repeat-containing protein 86 isoform X12"
                     /calculated_mol_wt=19314
     CDS             1..191
                     /gene="WDR86"
                     /coded_by="XM_054358132.1:342..917"
                     /db_xref="GeneID:349136"
                     /db_xref="HGNC:HGNC:28020"
ORIGIN      
        1 msrefrghrn cvltlaysap wdlpstpcae eaaaggllvt gstdgtakvw qvasgcchqt
       61 lrghtgavlc lvldtpghta ftgstdatir awdilsgeql rvfrehrgsv iclecsraag
      121 tlapgpstrs lescggcsga thssstasrr eaagdsvcrg eliislqrea paagaapssg
      181 aalsgraaca s
//
LOCUS       XP_054215646             148 aa            linear   PRI 20-MAR-2023
DEFINITION  protein tyrosine phosphatase type IVA 3 isoform X3 [Homo sapiens].
ACCESSION   XP_054215646
VERSION     XP_054215646.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359671.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..148
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..148
                     /product="protein tyrosine phosphatase type IVA 3 isoform
                     X3"
                     /calculated_mol_wt=16645
     CDS             1..148
                     /gene="PTP4A3"
                     /gene_synonym="PRL-3; PRL-R; PRL3"
                     /coded_by="XM_054359671.1:1085..1531"
                     /db_xref="GeneID:11156"
                     /db_xref="HGNC:HGNC:9636"
                     /db_xref="MIM:606449"
ORIGIN      
        1 marmnrpapv evsykhmrfl ithnptnatl stfiedlkky gattvvrvce vtydktplek
       61 dgitvvdwpf ddgapppgkv vedwlslvka kfceapgscv avhcvaglgr krrgainskq
      121 ltylekyrpk qrlrfkdpht hktrccvm
//
LOCUS       XP_054218385             616 aa            linear   PRI 20-MAR-2023
DEFINITION  formin-binding protein 1 isoform X14 [Homo sapiens].
ACCESSION   XP_054218385
VERSION     XP_054218385.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362410.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..616
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..616
                     /product="formin-binding protein 1 isoform X14"
                     /calculated_mol_wt=71080
     CDS             1..616
                     /gene="FNBP1"
                     /gene_synonym="FBP17"
                     /coded_by="XM_054362410.1:215..2065"
                     /db_xref="GeneID:23048"
                     /db_xref="HGNC:HGNC:17069"
                     /db_xref="MIM:606191"
ORIGIN      
        1 mswgtelwdq fdnlekhtqw gidilekyik fvkerteiel syakqlrnls kkyqpkknsk
       61 eeeeykytsc kafisnlnem ndyagqhevi senmasqiiv dlaryvqelk qerksnfhdg
      121 rkaqqhietc wkqlesskrr ferdckeadr aqqyfekmda dinvtkadve karqqaqirh
      181 qmaedskady ssilqkfnhe qheyyhthip nifqkiqeme errivrmges mktyaevdrq
      241 vipiigkcld givkaaesid qkndsqlvie ayksgfeppg diefedytqp mkrtvsdnsl
      301 snsrgegkpd lkfggkskgk lwpfikknkl mslltsphqp pppppasasp savpngpqsp
      361 kqqkeplshr fnefmtskpk ihcfrslkrg gatpedfsnl ppeqrrkklq qkvdelnkei
      421 qkemdqrdai tkmkdvylkn pqmgdpasld hklaevsqni eklrvetqkf eawlaevegr
      481 lparneqarr qsglydsqnp ptvnncaqdr espdgsytee qsqesemkvl atdfddefdd
      541 eeplpaigtc kalytfegqn egtisvvege tlyvieedkg dgwtrirrne deegyvptsy
      601 vevcldknak gaktyi
//
LOCUS       XP_054218512             405 aa            linear   PRI 20-MAR-2023
DEFINITION  PHD finger protein 24 isoform X4 [Homo sapiens].
ACCESSION   XP_054218512
VERSION     XP_054218512.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362537.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..405
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..405
                     /product="PHD finger protein 24 isoform X4"
                     /calculated_mol_wt=45621
     CDS             1..405
                     /gene="PHF24"
                     /gene_synonym="GINIP"
                     /coded_by="XM_054362537.1:150..1367"
                     /db_xref="GeneID:23349"
                     /db_xref="HGNC:HGNC:29180"
                     /db_xref="MIM:619928"
ORIGIN      
        1 mmllamgvlm skrqtveqvq kvslavsafk dglrdrpsir rtgelpgsrr gtvegsvqev
       61 qeekeaeagt svvqeessag raawerlrdg rgvepeefdr tsrftppafi rptrkldddk
      121 ppeiclepre pvvndemcdv cevwtaeslf pcrvctrvfh dgclrrmgyi qgdsaaevte
      181 mahtetgwsc hycdninlll teeemyslte tfqrckvipd csltledflr yrhqaakrgd
      241 rdralseeqe eqaarqfaal dpehrghiew pdflshesll llqqlrpqns llrlltvker
      301 eraraaflar gsgstvseae crraqhswfc krfpeapscs vsishvgpia dsspassssk
      361 sqdktllpte qesrfvdwpt flqenvlyil aarpnsaaih lkppg
//
LOCUS       XP_054219662             829 aa            linear   PRI 20-MAR-2023
DEFINITION  transducin-like enhancer protein 4 isoform X11 [Homo sapiens].
ACCESSION   XP_054219662
VERSION     XP_054219662.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363687.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..829
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..829
                     /product="transducin-like enhancer protein 4 isoform X11"
                     /calculated_mol_wt=90432
     CDS             1..829
                     /gene="TLE4"
                     /gene_synonym="BCE-1; BCE1; E(spI); E(spl); ESG; ESG4;
                     Grg-4; GRG4"
                     /coded_by="XM_054363687.1:156..2645"
                     /db_xref="GeneID:7091"
                     /db_xref="HGNC:HGNC:11840"
                     /db_xref="MIM:605132"
ORIGIN      
        1 marvpptgqf rfraphqpaq pfkftisesc drikeefqfl qaqyhslkle ceklasekte
       61 mqrhyvmyye msyglniemh kqaeivkrln aicaqvipfl sqehqqqvvq averakqvtm
      121 aelnaiigqq qlqaqhlshg hglpvpltph psglqppaip pigssaglla lssalggqsh
      181 lpikdekkhh dndhqrdrds iksssvspsa sfrgaekhrn sadysseskk qkteekeiaa
      241 rydsdgeksd dnlvvdvsne dpssprgspa hsprengldk trllkkdapi spasiassss
      301 tpsskskels lkrdmgklse trlsedeqct lglqrwfcrl wfmneksttp vsksntptpr
      361 tdaptpgsns tpglrpvpgk ppgvdplass lrtpmavpcp yptpfgivph agmngeltsp
      421 gaayaglhni spqmsaaaaa aaaaaaygrs pvvgfdphhh mrvpaippnl tgipggkptk
      481 cfyhlrafpg nelemelprd thraysfhvs adgqmqpvpf ppdaligpgi prharqintl
      541 nhgevvcavt isnptrhvyt ggkgcvkvwd ishpgnkspv sqldclnrdn yirscrllpd
      601 grtlivggea stlsiwdlaa ptprikaelt ssapacyala ispdskvcfs ccsdgniavw
      661 dlhnqtlvrq fqghtdgasc idisndgtkl wtggldntvr swdlregrql qqhdftsqif
      721 slgycptgew lavgmensnv evlhvtkpdk yqlhlhescv lslkfahcgk wfvstgkdnl
      781 lnawrtpyga sifqskesss vlscdisvdd kyivtgsgdk katvyeviy
//
LOCUS       NP_001382375             132 aa            linear   PRI 21-MAR-2023
DEFINITION  myosin light chain 5 isoform 2 [Homo sapiens].
ACCESSION   NP_001382375
VERSION     NP_001382375.1
DBSOURCE    REFSEQ: accession NM_001395446.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 132)
  AUTHORS   Lv M.
  TITLE     MYL5 as a Novel Prognostic Marker is Associated with Immune
            Infiltrating in Breast Cancer: A Preliminary Study
  JOURNAL   Breast J 2023, 9508632 (2023)
   PUBMED   36846347
  REMARK    GeneRIF: MYL5 as a Novel Prognostic Marker is Associated with
            Immune Infiltrating in Breast Cancer: A Preliminary Study.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 132)
  AUTHORS   Joslyn G, Ravindranathan A, Brush G, Schuckit M and White RL.
  TITLE     Human variation in alcohol response is influenced by variation in
            neuronal signaling genes
  JOURNAL   Alcohol Clin Exp Res 34 (5), 800-812 (2010)
   PUBMED   20201926
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   3  (residues 1 to 132)
  AUTHORS   Sellers JR.
  TITLE     Myosins: a diverse superfamily
  JOURNAL   Biochim Biophys Acta 1496 (1), 3-22 (2000)
   PUBMED   10722873
  REMARK    Review article
REFERENCE   4  (residues 1 to 132)
  AUTHORS   Collins C, Schappert K and Hayden MR.
  TITLE     The genomic organization of a novel regulatory myosin light chain
            gene (MYL5) that maps to chromosome 4p16.3 and shows different
            patterns of expression between primates
  JOURNAL   Hum Mol Genet 1 (9), 727-733 (1992)
   PUBMED   1284596
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC107464.5.
            
            Summary: This gene encodes one of the myosin light chains, a
            component of the hexameric ATPase cellular motor protein myosin.
            Myosin is composed of two heavy chains, two nonphosphorylatable
            alkali light chains, and two phosphorylatable regulatory light
            chains. This gene product, one of the regulatory light chains, is
            expressed in fetal muscle and in adult retina, cerebellum, and
            basal ganglia. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            CDS exon combination :: CD673590.1, BM681727.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1966682, SAMEA2142363 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..132
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     Protein         1..132
                     /product="myosin light chain 5 isoform 2"
                     /note="myosin, light polypeptide 5, regulatory; superfast
                     myosin regulatory light chain 2; myosin regulatory light
                     chain 5; myosin, light chain 5, regulatory"
                     /calculated_mol_wt=14757
     Region          1..118
                     /region_name="FRQ1"
                     /note="Ca2+-binding protein, EF-hand superfamily [Signal
                     transduction mechanisms]; COG5126"
                     /db_xref="CDD:227455"
     CDS             1..132
                     /gene="MYL5"
                     /gene_synonym="MYLC2"
                     /coded_by="NM_001395446.1:392..790"
                     /note="isoform 2 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS87196.1"
                     /db_xref="GeneID:4636"
                     /db_xref="HGNC:HGNC:7586"
                     /db_xref="MIM:160782"
ORIGIN      
        1 mdqnrdgfid kedlkdtyas lgktnvkdde ldamlkeasg pinftmflnl fgeklsgtda
       61 eetilnafkm ldpdgkgkin keyikrllms qadkmtaeev dqmfqfasid vagnldykal
      121 syvithgeek ee
//
LOCUS       NP_001392803            1061 aa            linear   PRI 22-MAR-2023
DEFINITION  KAT8 regulatory NSL complex subunit 1 isoform 5 [Homo sapiens].
ACCESSION   NP_001392803
VERSION     NP_001392803.1
DBSOURCE    REFSEQ: accession NM_001405874.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1061)
  AUTHORS   Agaimy A, Clarke BA, Kolin DL, Lee CH, Lee JC, McCluggage WG,
            Poschke P, Stoehr R, Swanson D, Turashvili G, Beckmann MW, Hartmann
            A, Antonescu CR and Dickson BC.
  TITLE     Recurrent KAT6B/A::KANSL1 Fusions Characterize a Potentially
            Aggressive Uterine Sarcoma Morphologically Overlapping With
            Low-grade Endometrial Stromal Sarcoma
  JOURNAL   Am J Surg Pathol 46 (9), 1298-1308 (2022)
   PUBMED   35575789
  REMARK    GeneRIF: Recurrent KAT6B/A::KANSL1 Fusions Characterize a
            Potentially Aggressive Uterine Sarcoma Morphologically Overlapping
            With Low-grade Endometrial Stromal Sarcoma.
REFERENCE   2  (residues 1 to 1061)
  AUTHORS   Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA,
            Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X,
            Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang
            B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P,
            Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe
            F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch
            C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras
            A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M,
            Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers
            C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM,
            Elliott P, Walsh T, Tenesa A, Fawkes A, Murphy L, Rowan K, Ponting
            CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry
            SC, Moutsianas L, Law A, Caulfield MJ and Baillie JK.
  CONSRTM   GenOMICC investigators; 23andMe investigators; COVID-19 Human
            Genetics Initiative
  TITLE     Whole-genome sequencing reveals host factors underlying critical
            COVID-19
  JOURNAL   Nature 607 (7917), 97-103 (2022)
   PUBMED   35255492
REFERENCE   3  (residues 1 to 1061)
  AUTHORS   Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio
            PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M,
            Scarano E, Graziano C and Zollino M.
  TITLE     Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency
            syndrome
  JOURNAL   J Med Genet 59 (2), 189-195 (2022)
   PUBMED   33361104
  REMARK    GeneRIF: Adult phenotype in Koolen-de Vries/KANSL1
            haploinsufficiency syndrome.
REFERENCE   4  (residues 1 to 1061)
  AUTHORS   Fejzo MS, Chen HW, Anderson L, McDermott MS, Karlan B, Konecny GE
            and Slamon DJ.
  TITLE     Analysis in epithelial ovarian cancer identifies KANSL1 as a
            biomarker and target gene for immune response and HDAC inhibition
  JOURNAL   Gynecol Oncol 160 (2), 539-546 (2021)
   PUBMED   33229045
  REMARK    GeneRIF: Analysis in epithelial ovarian cancer identifies KANSL1 as
            a biomarker and target gene for immune response and HDAC
            inhibition.
REFERENCE   5  (residues 1 to 1061)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1061)
  AUTHORS   Dou Y, Milne TA, Tackett AJ, Smith ER, Fukuda A, Wysocka J, Allis
            CD, Chait BT, Hess JL and Roeder RG.
  TITLE     Physical association and coordinate function of the H3 K4
            methyltransferase MLL1 and the H4 K16 acetyltransferase MOF
  JOURNAL   Cell 121 (6), 873-885 (2005)
   PUBMED   15960975
REFERENCE   7  (residues 1 to 1061)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   8  (residues 1 to 1061)
  AUTHORS   Poorkaj P, Kas A, D'Souza I, Zhou Y, Pham Q, Stone M, Olson MV and
            Schellenberg GD.
  TITLE     A genomic sequence analysis of the mouse and human
            microtubule-associated protein tau
  JOURNAL   Mamm Genome 12 (9), 700-712 (2001)
   PUBMED   11641718
REFERENCE   9  (residues 1 to 1061)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (residues 1 to 1061)
  AUTHORS   Koolen,D.A., Morgan,A. and de Vries,B.B.A.
  TITLE     Koolen-de Vries Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301783
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC217773.1, CR936218.6 and
            KF495991.1.
            
            Summary: This gene encodes a nuclear protein that is a subunit of
            two protein complexes involved with histone acetylation, the MLL1
            complex and the NSL1 complex. The encoded protein has been
            implicated in a variety of cellular processes including enhancer
            regulation, cell proliferation, and mitosis. Mutations in this gene
            are associated with Koolen-de Vries Syndrome. [provided by RefSeq,
            May 2022].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1808272.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
                                   variant(s)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1061
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..1061
                     /product="KAT8 regulatory NSL complex subunit 1 isoform 5"
                     /note="male-specific lethal 1 homolog; centromere protein
                     36; NSL complex protein NSL1; non-specific lethal 1
                     homolog; MSL1 homolog 1; MLL1/MLL complex subunit KANSL1"
                     /calculated_mol_wt=116251
     Region          885..>947
                     /region_name="PEHE"
                     /note="PEHE domain; pfam15275"
                     /db_xref="CDD:434589"
     CDS             1..1061
                     /gene="KANSL1"
                     /gene_synonym="C17DELq21.31; CENP-36; DEL17Q21.31;
                     hMSL1v1; KDVS; KIAA1267; MSL1v1; NSL1"
                     /coded_by="NM_001405874.1:391..3576"
                     /note="isoform 5 is encoded by transcript variant 15"
                     /db_xref="GeneID:284058"
                     /db_xref="HGNC:HGNC:24565"
                     /db_xref="MIM:612452"
ORIGIN      
        1 maamapaltd aaaeahhirf klappsstls pgsaenngna niliaangtk rkaiaaedps
       61 ldfrnnptke dlgklqplva sylcsdvtsv pskeslklqg vfskqtvlks hpllsqsyel
      121 raellgrqpv lefslenlrt mntsgqtalp qapvnglakk ltkssthsdh dnstslnggk
      181 raltssalhg gemggsesgd lkggmtnctl phrsldveht tlysnnstan kssvnsmeqp
      241 alqgssrlsp gtdsssnlgg vklegkkspl ssilfsalds dtritallrr qadiesrarr
      301 lqkrlqvvqa kqverhiqhq lggflektls klpnleslrp rsqlmltrka eaalrkaase
      361 tttseglsnf lksnsiseel erftasgian lrcseqafds dvtdsssgge sdieeeeltr
      421 adpeqrhvpl rrrsewkwaa draaivsrwn wlqahvsdle yrirqqtdiy kqirankgli
      481 vlgevpppeh ttdlflplss evktdhgtdk liesvsqple nhgapiighi seslstkscg
      541 alrpvngvin tlqpvladhi pgdssdaeeq lhkkqrlnlv ssssdgtcva artrpvlsck
      601 krrlvrpnsi vplskkvhrn stirpgcdvn pscalcgsgs intmppeihy eapllerlsq
      661 ldscvhpvla fpddvptslh fqsmlksqwq nkpfdkikpp kklslkhrap mpgslpdsar
      721 kdrhklvssf lttaklshhq trpdrthrqh lddvgavpmv ervtapkaer llnppppvhd
      781 pnhskmrlrd hssersevlk hhtdmssssy laathhpphs plvrqlstss dspapassss
      841 qvtastsqqp vrrrrgessf dinnivipms vaattrvekl qykeiltpsw revdlqslkg
      901 spdeeneeie dlsdaafaal hakceemera rwlwttsvpp qrrgsrspis pelhsapltp
      961 vardtprhla sedtrcstpe lgldeqsvqp werrtfplah spqaecedql daqeraarct
     1021 rrtsgsktgr eteaaptspp ivplksrhlv aaataqrpth r
//
LOCUS       NP_742068               1133 aa            linear   PRI 28-MAR-2023
DEFINITION  roquin-1 isoform b [Homo sapiens].
ACCESSION   NP_742068 XP_086409
VERSION     NP_742068.1
DBSOURCE    REFSEQ: accession NM_172071.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1133)
  AUTHORS   Mai D, Johnson O, Reff J, Fan TJ, Scholler J, Sheppard NC and June
            CH.
  TITLE     Combined disruption of T cell inflammatory regulators Regnase-1 and
            Roquin-1 enhances antitumor activity of engineered human T cells
  JOURNAL   Proc Natl Acad Sci U S A 120 (12), e2218632120 (2023)
   PUBMED   36920923
  REMARK    GeneRIF: Combined disruption of T cell inflammatory regulators
            Regnase-1 and Roquin-1 enhances antitumor activity of engineered
            human T cells.
REFERENCE   2  (residues 1 to 1133)
  AUTHORS   Xia S, Huang J, Yan L, Han J, Zhang W, Shao H, Shen H, Wang J, Wang
            J, Tao C, Wang D and Wu F.
  TITLE     miR-150 promotes progressive T cell differentiation via inhibiting
            FOXP1 and RC3H1
  JOURNAL   Hum Immunol 83 (11), 778-788 (2022)
   PUBMED   35999072
  REMARK    GeneRIF: miR-150 promotes progressive T cell differentiation via
            inhibiting FOXP1 and RC3H1.
REFERENCE   3  (residues 1 to 1133)
  AUTHORS   Srivastava RK, Mishra B, Muzaffar S, Gorbatyuk MS, Agarwal A,
            Mukhtar MS and Athar M.
  TITLE     Dynamic Regulation of the Nexus Between Stress Granules, Roquin,
            and Regnase-1 Underlies the Molecular Pathogenesis of Warfare
            Vesicants
  JOURNAL   Front Immunol 12, 809365 (2022)
   PUBMED   35082795
  REMARK    GeneRIF: Dynamic Regulation of the Nexus Between Stress Granules,
            Roquin, and Regnase-1 Underlies the Molecular Pathogenesis of
            Warfare Vesicants.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1133)
  AUTHORS   Lu W, Zhou M, Wang B, Liu X and Li B.
  TITLE     Roquin1 inhibits the proliferation of breast cancer cells by
            inducing G1/S cell cycle arrest via selectively destabilizing the
            mRNAs of cell cycle-promoting genes
  JOURNAL   J Exp Clin Cancer Res 39 (1), 255 (2020)
   PUBMED   33228782
  REMARK    GeneRIF: Roquin1 inhibits the proliferation of breast cancer cells
            by inducing G1/S cell cycle arrest via selectively destabilizing
            the mRNAs of cell cycle-promoting genes.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1133)
  AUTHORS   Binas O, Tants JN, Peter SA, Janowski R, Davydova E, Braun J,
            Niessing D, Schwalbe H, Weigand JE and Schlundt A.
  TITLE     Structural basis for the recognition of transiently structured
            AU-rich elements by Roquin
  JOURNAL   Nucleic Acids Res 48 (13), 7385-7403 (2020)
   PUBMED   32491174
  REMARK    GeneRIF: Structural basis for the recognition of transiently
            structured AU-rich elements by Roquin.
REFERENCE   6  (residues 1 to 1133)
  AUTHORS   Heissmeyer V and Vogel KU.
  TITLE     Molecular control of Tfh-cell differentiation by Roquin family
            proteins
  JOURNAL   Immunol Rev 253 (1), 273-289 (2013)
   PUBMED   23550652
  REMARK    Review article
REFERENCE   7  (residues 1 to 1133)
  AUTHORS   Athanasopoulos V, Barker A, Yu D, Tan AH, Srivastava M, Contreras
            N, Wang J, Lam KP, Brown SH, Goodnow CC, Dixon NE, Leedman PJ,
            Saint R and Vinuesa CG.
  TITLE     The ROQUIN family of proteins localizes to stress granules via the
            ROQ domain and binds target mRNAs
  JOURNAL   FEBS J 277 (9), 2109-2127 (2010)
   PUBMED   20412057
REFERENCE   8  (residues 1 to 1133)
  AUTHORS   Linterman MA, Rigby RJ, Wong R, Silva D, Withers D, Anderson G,
            Verma NK, Brink R, Hutloff A, Goodnow CC and Vinuesa CG.
  TITLE     Roquin differentiates the specialized functions of duplicated T
            cell costimulatory receptor genes CD28 and ICOS
  JOURNAL   Immunity 30 (2), 228-241 (2009)
   PUBMED   19217324
REFERENCE   9  (residues 1 to 1133)
  AUTHORS   Yu D, Tan AH, Hu X, Athanasopoulos V, Simpson N, Silva DG, Hutloff
            A, Giles KM, Leedman PJ, Lam KP, Goodnow CC and Vinuesa CG.
  TITLE     Roquin represses autoimmunity by limiting inducible T-cell
            co-stimulator messenger RNA
  JOURNAL   Nature 450 (7167), 299-303 (2007)
   PUBMED   18172933
  REMARK    Erratum:[Nature. 2008 Feb 21;451(7181):1022]
REFERENCE   10 (residues 1 to 1133)
  AUTHORS   Vinuesa CG, Cook MC, Angelucci C, Athanasopoulos V, Rui L, Hill KM,
            Yu D, Domaschenz H, Whittle B, Lambe T, Roberts IS, Copley RR, Bell
            JI, Cornall RJ and Goodnow CC.
  TITLE     A RING-type ubiquitin ligase family member required to repress
            follicular helper T cells and autoimmunity
  JOURNAL   Nature 435 (7041), 452-458 (2005)
   PUBMED   15917799
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121983.13, AB095945.1 and
            AL136170.14.
            On Aug 25, 2005 this sequence version replaced XP_086409.6.
            
            Summary: This gene encodes a protein containing RING-type and
            C3H1-type zinc finger motifs. The encoded protein recognizes and
            binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs,
            leading to mRNA deadenylation and degradation. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jul
            2014].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1. The
            encoded isoform (b) is shorter than isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853564.2306.1,
                                           SRR18074967.858912.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367696.7/ ENSP00000356669.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1133
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.1"
     Protein         1..1133
                     /product="roquin-1 isoform b"
                     /EC_number="2.3.2.27"
                     /note="RING finger protein 198; RING finger and C3H zinc
                     finger protein 1; probable E3 ubiquitin-protein ligase
                     Roquin; RING finger and CCCH-type zinc finger
                     domain-containing protein 1; roquin-1"
                     /calculated_mol_wt=125606
     Region          6..54
                     /region_name="mRING-HC-C3HC3D_Roquin1"
                     /note="Modified RING finger, HC subclass (C3HC3D-type),
                     found in Roquin-1; cd16781"
                     /db_xref="CDD:438436"
     Region          89..173
                     /region_name="HEPN-N.
                     /evidence=ECO:0000269|PubMed:26489670"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TC82.1)"
     Region          174..326
                     /region_name="ROQ. /evidence=ECO:0000269|PubMed:25504471,
                     ECO:0000269|PubMed:26489670"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TC82.1)"
     Region          271..326
                     /region_name="ROQ_II"
                     /note="Roquin II domain; pfam18386"
                     /db_xref="CDD:436456"
     Region          327..396
                     /region_name="HEPN-C.
                     /evidence=ECO:0000269|PubMed:26489670"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TC82.1)"
     Region          414..440
                     /region_name="zf-CCCH"
                     /note="Zinc finger C-x8-C-x5-C-x3-H type (and similar);
                     pfam00642"
                     /db_xref="CDD:425793"
     Site            462
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q5TC82.1)"
     Region          <494..>727
                     /region_name="PRK10263"
                     /note="DNA translocase FtsK; Provisional"
                     /db_xref="CDD:236669"
     Region          505..543
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TC82.1)"
     Site            510
                     /site_type="cleavage"
                     /note="Cleavage, by MALT1.
                     /evidence=ECO:0000250|UniProtKB:Q4VGL6; propagated from
                     UniProtKB/Swiss-Prot (Q5TC82.1)"
     Site            531
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q4VGL6; propagated from
                     UniProtKB/Swiss-Prot (Q5TC82.1)"
     Site            535
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5TC82.1)"
     Site            579
                     /site_type="cleavage"
                     /note="Cleavage, by MALT1.
                     /evidence=ECO:0000250|UniProtKB:Q4VGL6; propagated from
                     UniProtKB/Swiss-Prot (Q5TC82.1)"
     Site            863
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5TC82.1)"
     Region          1000..1019
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TC82.1)"
     Region          1058..1078
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TC82.1)"
     Region          1094..1133
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TC82.1)"
     Site            1110
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q4VGL6; propagated from
                     UniProtKB/Swiss-Prot (Q5TC82.1)"
     CDS             1..1133
                     /gene="RC3H1"
                     /gene_synonym="FHL6; IMDSHY; RNF198; ROQUIN"
                     /coded_by="NM_172071.4:413..3814"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS30940.1"
                     /db_xref="GeneID:149041"
                     /db_xref="HGNC:HGNC:29434"
                     /db_xref="MIM:609424"
ORIGIN      
        1 mpvqapqwtd flscpictqt fdetirkpis lgcghtvckm clnklhrkac pfdqttintd
       61 iellpvnsal lqlvgaqvpe qqpitlcsgv edtkhyeeak kcveelalyl kplssargvg
      121 lnsttqsvls rpmqrklvtl vhcqlveeeg riramraars lgertvteli lqhqnpqqls
      181 snlwaavrar gcqflgpamq eealklvlla ledgsalsrk vlvlfvvqrl eprfpqaskt
      241 sighvvqlly rascfkvtkr dedsslmqlk eefrtyealr rehdsqivqi ameaglriap
      301 dqwssllygd qshkshmqsi idklqtpasf aqsvqeltia lqrtgdpanl nrlrphlell
      361 anidpspdap pptweqleng lvavrtvvhg lvdyiqnhsk kgadqqqppq hskyktymcr
      421 dmkqrggcpr gasctfahsq eelekfrkmn krlvprrpls aslgqlnevg lpsaailpde
      481 gavdlpsrkp palpngivst gntvtqlipr gtdpsydssl kpgkidhlss sapgsppdll
      541 esvpksisal pvnphsippr gpadlppmpv tkplqmvprg sqlypaqqtd vyyqdprgaa
      601 ppfepapyqq gmyytpppqc vsrfvrppps apepappyld hyppylqerv vnsqygtqpq
      661 qyppiypshy dgrrvypaps ytreeifres pipieippaa vpsyvpesre ryqqiesyyp
      721 vaphptqirp sylreppysr lppppqphps ldelhrrrke imaqleerkv ispppfapsp
      781 tlpptfhpee fldedlkvag kykgndysqy spwscdtigs yigtkdakpk dvvaagsvem
      841 mnveskgmrd qrldlqrraa etsdddlipf gdrptvsrfg aisrtsktiy qgagpmqama
      901 pqgaptksin isdyspygth ggwgaspysp hqnipsqghf sererismse vashgkplps
      961 aereqlrlel qqlnhqisqq tqlrgleavs nrlvlqrean tlagqsqppp ppppkwpgmi
     1021 sseqlslelh qvereigkrt relsmenqcs ldmksklnts kqaengqpep qnkvpaedlt
     1081 ltfsdvpngs altqenisll snktsslnls edpegggdnn dsqrsgvtps sap
//
LOCUS       NP_065997               1009 aa            linear   PRI 10-APR-2023
DEFINITION  DENN domain-containing protein 1A isoform 1 [Homo sapiens].
ACCESSION   NP_065997 XP_497076
VERSION     NP_065997.1
DBSOURCE    REFSEQ: accession NM_020946.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1009)
  AUTHORS   Larsen CB, Kudela E and Biringer K.
  TITLE     Association of FSHR and DENND1A polymorphisms with polycystic ovary
            syndrome: a meta-analysis
  JOURNAL   JBRA Assist Reprod 27 (1), 60-70 (2023)
   PUBMED   36350975
  REMARK    GeneRIF: Association of FSHR and DENND1A polymorphisms with
            polycystic ovary syndrome: a meta-analysis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1009)
  AUTHORS   Sun YV, Li C, Hui Q, Huang Y, Barbano R, Rodriguez R, Malaty IA,
            Reich S, Bambarger K, Holmes K, Jankovic J, Patel NJ, Roze E,
            Vidailhet M, Berman BD, LeDoux MS, Espay AJ, Agarwal P,
            Pirio-Richardson S, Frank SA, Ondo WG, Saunders-Pullman R,
            Chouinard S, Natividad S, Berardelli A, Pantelyat AY, Brashear A,
            Fox SH, Kasten M, Kramer UM, Neis M, Baumer T, Loens S, Borsche M,
            Zittel S, Maurer A, Gelderblom M, Volkmann J, Odorfer T, Kuhn AA,
            Borngraber F, Konig IR, Cruchaga C, Cotton AC, Kilic-Berkmen G,
            Freeman A, Factor SA, Scorr L, Bremner JD, Vaccarino V, Quyyumi AA,
            Klein C, Perlmutter JS, Lohmann K and Jinnah HA.
  TITLE     A Multi-center Genome-wide Association Study of Cervical Dystonia
  JOURNAL   Mov Disord 36 (12), 2795-2801 (2021)
   PUBMED   34320236
  REMARK    GeneRIF: A Multi-center Genome-wide Association Study of Cervical
            Dystonia.
REFERENCE   3  (residues 1 to 1009)
  AUTHORS   Zhu YN, Zhang YT, Liu Q, Shen SM, Zou X, Cao YX, Wang WJ, Yi L, Gao
            Q, Yang WD and Wang Y.
  TITLE     Association analysis between the tag single nucleotide
            polymorphisms of DENND1A and the risk of polycystic ovary syndrome
            in Chinese Han women
  JOURNAL   BMC Med Genet 21 (1), 14 (2020)
   PUBMED   31941453
  REMARK    GeneRIF: The tagging SNPs rs2479106 and rs2468819 in the DENND1A
            gene are associated with polycystic ovary syndrome (PCOS) in the
            Chinese population, whereas rs2670139, rs2536951 and rs2479102 are
            not correlated with PCOS in the same population
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1009)
  AUTHORS   McAllister JM, Han AX, Modi BP, Teves ME, Mavodza GR, Anderson ZL,
            Shen T, Christenson LK, Archer KJ and Strauss JF.
  TITLE     miRNA Profiling Reveals miRNA-130b-3p Mediates DENND1A Variant 2
            Expression and Androgen Biosynthesis
  JOURNAL   Endocrinology 160 (8), 1964-1981 (2019)
   PUBMED   31184707
  REMARK    GeneRIF: decreased miR-130b-3p expression in PCOS theca cells,
            which was correlated with increased DENND1A.V2, cytochrome P450
            17alpha-hydroxylase (CYP17A1) mRNA and androgen biosynthesis.
REFERENCE   5  (residues 1 to 1009)
  AUTHORS   Kadioglu E, Altun B, Ipek C, Doger E, Bideci A, Attaran H and Cok
            I.
  TITLE     The role of DENND1A and CYP19A1 gene variants in individual
            susceptibility to obesity in Turkish population-a preliminary study
  JOURNAL   Mol Biol Rep 45 (6), 2193-2199 (2018)
   PUBMED   30232779
  REMARK    GeneRIF: we evaluated the frequencies of CYP19A1 rs2414096 and
            DENND1A rs10818854 polymorphisms in overweight and normal
            individuals and didn't find any significant difference between
            these groups which demonstrates a lack of association between
            obesity risk and these SNPs
REFERENCE   6  (residues 1 to 1009)
  AUTHORS   Letra A, Menezes R, Govil M, Fonseca RF, McHenry T, Granjeiro JM,
            Castilla EE, Orioli IM, Marazita ML and Vieira AR.
  TITLE     Follow-up association studies of chromosome region 9q and
            nonsyndromic cleft lip/palate
  JOURNAL   Am J Med Genet A 152A (7), 1701-1710 (2010)
   PUBMED   20583170
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 1009)
  AUTHORS   Marat AL and McPherson PS.
  TITLE     The connecdenn family, Rab35 guanine nucleotide exchange factors
            interfacing with the clathrin machinery
  JOURNAL   J Biol Chem 285 (14), 10627-10637 (2010)
   PUBMED   20154091
REFERENCE   8  (residues 1 to 1009)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 1009)
  AUTHORS   Allaire PD, Ritter B, Thomas S, Burman JL, Denisov AY,
            Legendre-Guillemin V, Harper SQ, Davidson BL, Gehring K and
            McPherson PS.
  TITLE     Connecdenn, a novel DENN domain-containing protein of neuronal
            clathrin-coated vesicles functioning in synaptic vesicle
            endocytosis
  JOURNAL   J Neurosci 26 (51), 13202-13212 (2006)
   PUBMED   17182770
REFERENCE   10 (residues 1 to 1009)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006450.13, AL390774.10, AL161790.23 and AL445489.10.
            On Nov 22, 2004 this sequence version replaced XP_497076.1.
            
            Summary: Clathrin (see MIM 118955)-mediated endocytosis is a major
            mechanism for internalization of proteins and lipids. Members of
            the connecdenn family, such as DENND1A, function as guanine
            nucleotide exchange factors (GEFs) for the early endosomal small
            GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor
            protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35
            activation with the clathrin machinery (Marat and McPherson, 2010
            [PubMed 20154091]).[supplied by OMIM, Nov 2010].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853562.32278.1,
                                           SRR14038197.714727.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1009
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3"
     Protein         1..1009
                     /product="DENN domain-containing protein 1A isoform 1"
                     /note="DENN domain-containing protein 1A; connecdenn 1;
                     DENN/MADD domain containing 1A"
                     /calculated_mol_wt=110447
     Region          9..91
                     /region_name="uDENN"
                     /note="Domain always found upstream of DENN domain, found
                     in a variety of signalling proteins; smart00800"
                     /db_xref="CDD:214824"
     Region          95..273
                     /region_name="DENN"
                     /note="Domain found in a variety of signalling proteins,
                     always encircled by uDENN and dDENN; smart00799"
                     /db_xref="CDD:214823"
     Region          305..371
                     /region_name="dDENN"
                     /note="Domain always found downstream of DENN domain,
                     found in a variety of signalling proteins; smart00801"
                     /db_xref="CDD:129037"
     Region          381..385
                     /region_name="FXDXF motif.
                     /evidence=ECO:0000305|PubMed:20154091"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEH3.2)"
     Region          453..564
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEH3.2)"
     Site            473
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TEH3.2)"
     Site            519
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8TEH3.2)"
     Site            520
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8TEH3.2)"
     Site            523
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TEH3.2)"
     Site            536
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26055712,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8TEH3.2)"
     Site            538
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26055712,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332;
                     propagated from UniProtKB/Swiss-Prot (Q8TEH3.2)"
     Site            546
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8TEH3.2)"
     Region          569..578
                     /region_name="Clathrin box.
                     /evidence=ECO:0000305|PubMed:20154091"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEH3.2)"
     Site            592
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8TEH3.2)"
     Region          <644..995
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          648..714
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEH3.2)"
     Site            749
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8TEH3.2)"
     Region          796..831
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEH3.2)"
     Region          928..1009
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEH3.2)"
     CDS             1..1009
                     /gene="DENND1A"
                     /gene_synonym="FAM31A; KIAA1608"
                     /coded_by="NM_020946.2:222..3251"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS35133.1"
                     /db_xref="GeneID:57706"
                     /db_xref="HGNC:HGNC:29324"
                     /db_xref="MIM:613633"
ORIGIN      
        1 mgsrikqnpe ttfevyveva yprtggtlsd pevqrqfped ysdqevlqtl tkfcfpfyvd
       61 sltvsqvgqn ftfvltdids kqrfgfcrls sgakscfcil sylpwfevfy kllniladyt
      121 tkrqenqwne lletlhklpi pdpgvsvhls vhsyftvpdt relpsipenr nlteyfvavd
      181 vnnmlhlyas mlyerrilii csklstltac ihgsaamlyp mywqhvyipv lpphlldycc
      241 apmpyligih lslmekvrnm alddvvilnv dtntletpfd dlqslpndvi sslknrlkkv
      301 stttgdgvar aflkaqaaff gsyrnalkie peepitfcee afvshyrsga mrqflqnatq
      361 lqlfkqfidg rldllnsgeg fsdvfeeein mgeyagsdkl yhqwlstvrk gsgailntvk
      421 tkanpamktv ykfakdhakm gikevknrlk qkdiaengca ptpeeqlpkt apsplveakd
      481 pklredrrpi tvhfgqvrpp rphvvkrpks niavegrrts vpspeqpqpy rtlresdsae
      541 gdeaespeqq vrkstgpvpa ppdraasidl ledvfsnldm eaalqplgqa ksledlrapk
      601 dlreqpgtfd yqrldlggse rsrgvtvalk lthpynklws lgqddmaips kppaaspekp
      661 sallgnslal prrpqnrdsi lnpsdkeevp tptlgsitip rpqgrktpel givppppipr
      721 paklqaagaa lgdvserlqt drdrraalsp gllpgvvpqg ptellqplsp gpgaagtssd
      781 allalldpls tawsgstlps rpatpnvatp ftpqfsfppa gtptpfpqpp lnpfvpsmpa
      841 apptlplvst pagpfgappa slgpafasgl llssagfcap hrsqpnlsal smpnlfgqmp
      901 mgthtsplqp lgppavapsr irtlplarss araaetkqgl alrpgdppll pprppqglep
      961 tlqpsapqqa rdpfedllqk tkqdvspspa lapapdsveq lrkqwetfe
//
LOCUS       NP_892121               1147 aa            linear   PRI 10-APR-2023
DEFINITION  protein virilizer homolog isoform 2 [Homo sapiens].
ACCESSION   NP_892121
VERSION     NP_892121.1
DBSOURCE    REFSEQ: accession NM_183009.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1147)
  AUTHORS   Kuang Y, Cheng Y, Wang J, Li H, Cao X and Wang Y.
  TITLE     KIAA1429 mediates epithelial mesenchymal transition in
            sorafenib-resistant hepatocellular carcinoma through m6A
            methylation modification
  JOURNAL   Cancer Med 12 (6), 7222-7233 (2023)
   PUBMED   36420693
  REMARK    GeneRIF: KIAA1429 mediates epithelial mesenchymal transition in
            sorafenib-resistant hepatocellular carcinoma through m6A
            methylation modification.
REFERENCE   2  (residues 1 to 1147)
  AUTHORS   Zhou S, Yang K, Chen S, Lian G, Huang Y, Yao H, Zhao Y, Huang K,
            Yin D, Lin H and Li Y.
  TITLE     CCL3 secreted by hepatocytes promotes the metastasis of
            intrahepatic cholangiocarcinoma by VIRMA-mediated
            N6-methyladenosine (m6A) modification
  JOURNAL   J Transl Med 21 (1), 43 (2023)
   PUBMED   36691046
  REMARK    GeneRIF: CCL3 secreted by hepatocytes promotes the metastasis of
            intrahepatic cholangiocarcinoma by VIRMA-mediated
            N6-methyladenosine (m[6]A) modification.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1147)
  AUTHORS   Lin X, Ye R, Li Z, Zhang B, Huang Y, Du J, Wang B, Meng H, Xian H,
            Yang X, Zhang X, Zhong Y and Huang Z.
  TITLE     KIAA1429 promotes tumorigenesis and gefitinib resistance in lung
            adenocarcinoma by activating the JNK/ MAPK pathway in an
            m6A-dependent manner
  JOURNAL   Drug Resist Updat 66, 100908 (2023)
   PUBMED   36493511
  REMARK    GeneRIF: KIAA1429 promotes tumorigenesis and gefitinib resistance
            in lung adenocarcinoma by activating the JNK/ MAPK pathway in an
            m[6]A-dependent manner.
REFERENCE   4  (residues 1 to 1147)
  AUTHORS   Zhang C, Sun Q, Zhang X, Qin N, Pu Z, Gu Y, Yan C, Zhu M, Dai J,
            Wang C, Li N, Jin G, Ma H, Hu Z, Zhang E, Tan F and Shen H.
  TITLE     Gene amplification-driven RNA methyltransferase KIAA1429 promotes
            tumorigenesis by regulating BTG2 via m6A-YTHDF2-dependent in lung
            adenocarcinoma
  JOURNAL   Cancer Commun (Lond) 42 (7), 609-626 (2022)
   PUBMED   35730068
  REMARK    GeneRIF: Gene amplification-driven RNA methyltransferase KIAA1429
            promotes tumorigenesis by regulating BTG2 via m6A-YTHDF2-dependent
            in lung adenocarcinoma.
REFERENCE   5  (residues 1 to 1147)
  AUTHORS   Ren S, Zhang Y, Yang X, Li X, Zheng Y, Liu Y and Zhang X.
  TITLE     N6-methyladenine- induced LINC00667 promoted breast cancer
            progression through m6A/KIAA1429 positive feedback loop
  JOURNAL   Bioengineered 13 (5), 13462-13473 (2022)
   PUBMED   36700472
  REMARK    GeneRIF: N6-methyladenine- induced LINC00667 promoted breast cancer
            progression through m6A/KIAA1429 positive feedback loop.
REFERENCE   6  (residues 1 to 1147)
  AUTHORS   Schwartz S, Mumbach MR, Jovanovic M, Wang T, Maciag K, Bushkin GG,
            Mertins P, Ter-Ovanesyan D, Habib N, Cacchiarelli D, Sanjana NE,
            Freinkman E, Pacold ME, Satija R, Mikkelsen TS, Hacohen N, Zhang F,
            Carr SA, Lander ES and Regev A.
  TITLE     Perturbation of m6A writers reveals two distinct classes of mRNA
            methylation at internal and 5' sites
  JOURNAL   Cell Rep 8 (1), 284-296 (2014)
   PUBMED   24981863
REFERENCE   7  (residues 1 to 1147)
  AUTHORS   Horiuchi K, Kawamura T, Iwanari H, Ohashi R, Naito M, Kodama T and
            Hamakubo T.
  TITLE     Identification of Wilms' tumor 1-associating protein complex and
            its role in alternative splicing and the cell cycle
  JOURNAL   J Biol Chem 288 (46), 33292-33302 (2013)
   PUBMED   24100041
REFERENCE   8  (residues 1 to 1147)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   9  (residues 1 to 1147)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   10 (residues 1 to 1147)
  AUTHORS   Obuse C, Yang H, Nozaki N, Goto S, Okazaki T and Yoda K.
  TITLE     Proteomics analysis of the centromere complex from HeLa interphase
            cells: UV-damaged DNA binding protein 1 (DDB-1) is a component of
            the CEN-complex, while BMI-1 is transiently co-localized with the
            centromeric region in interphase
  JOURNAL   Genes Cells 9 (2), 105-120 (2004)
   PUBMED   15009096
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC113380.1 and AF116724.1.
            
            Transcript Variant: This variant (2) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (2)
            has a shorter and distinct C-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF116724.1, BC113380.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1147
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.1"
     Protein         1..1147
                     /product="protein virilizer homolog isoform 2"
                     /note="functional spliceosome-associated protein 121;
                     virilizer homolog; protein virilizer homolog"
                     /calculated_mol_wt=128604
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.3,
                     ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q69YN4.2)"
     Region          5..235
                     /region_name="VIR_N"
                     /note="Virilizer, N-terminal; pfam15912"
                     /db_xref="CDD:435014"
     Region          132..302
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YN4.2)"
     Site            133
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q69YN4.2)"
     Site            138
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q69YN4.2)"
     Site            173
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q69YN4.2)"
     Site            184
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q69YN4.2)"
     Site            222
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q69YN4.2)"
     Region          576..596
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YN4.2)"
     Site            914
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q69YN4.2)"
     CDS             1..1147
                     /gene="VIRMA"
                     /gene_synonym="fSAP121; KIAA1429; MSTP054"
                     /coded_by="NM_183009.3:23..3466"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS47894.1"
                     /db_xref="GeneID:25962"
                     /db_xref="HGNC:HGNC:24500"
                     /db_xref="MIM:616447"
ORIGIN      
        1 mavdsamell fldtfkhpsa eqsshidvvr fpcvvyinev rvippgvrah sslpdnrayg
       61 etsphtfqld lffnnvskps apvfdrlgsl eydentsiif rpnskvntdg lvlrgwyncl
      121 tlaiygsvdr vishdrdspp pppppppppq pqpslkrnpk hadgekedqf ngspprpqpr
      181 gprtppgppp pdddeddpvp lpvsgdkeed aphredyfep ispdrnsvpq egqysdegev
      241 eeeqqeegee deddvdveee edededdrrt vdsipeeeee deeeegeede egegddgyeq
      301 issdedgiad leretfkypn fdveytaedl asvppmtydp ydrelvplly fscpykttfe
      361 ieisrmkdqg pdkensgaie asvkltelld lyredrgakw vtaleeipsl iikglsylql
      421 kntkqdslgq lvdwtmqaln lqvalrqpia lnvrqlkagt klvsslaecg aqgvtgllqa
      481 gvisglfell fadhvssslk lnafkaldsv ismtegmeaf lrgrqneksg yqkllelill
      541 dqtvrvvtag sailqkchfy evlseikrlg dhlaektssl pnhsepdhdt daglertnpe
      601 yeneveasmd mdllessnis egeierlinl leevfhlmet aphtmiqqpv ksfptmarit
      661 gpperddpyp vlfrylhshh flelvtllls ipvtsahpgv lqatkdvlkf laqsqkgllf
      721 fmseyeatnl liralchfyd qdeeeglqsd gviddafalw lqdstqtlqc itelfshfqr
      781 ctaseetdhs dllgtlhnly litfnpvgrs avghvfslek nlqslitlme yyskealgds
      841 kskksvayny acililvvvq sssdvqmleq haasllklck adennaklqe lgkwleplkn
      901 lrfeincipn lieyvkqnid nlmtpegvgl ttalrvlcnv acppppvegq qkdlkwnlav
      961 iqlfsaegmd tfirvlqkln siltqpwrlh vnmgttlhrv ttismarctl tllktmltel
     1021 lrggsfefkd mrvpsalvtl hmllcsipls grldsdeqki qndiidillt ftqgvneklt
     1081 iseetlannt wslmlkevls silkvpegff sglillsell plplpmqttq vslpynmhli
     1141 ndcsntf
//
LOCUS       NP_001032824             657 aa            linear   PRI 20-APR-2022
DEFINITION  zinc finger protein 630 isoform 1 [Homo sapiens].
ACCESSION   NP_001032824 XP_033853 XP_934569 XP_943030 XP_948584
VERSION     NP_001032824.2
DBSOURCE    REFSEQ: accession NM_001037735.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 657)
  AUTHORS   Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker
            AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee
            FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA,
            Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JH, Hehir-Kwa JY,
            Froyen G, Chelly J, Ropers HH, Moraine C, Gecz J, Knijnenburg J,
            Kant SG, Hamel BC, Rosenberg C, van Bokhoven H and de Brouwer AP.
  TITLE     Recurrent deletion of ZNF630 at Xp11.23 is not associated with
            mental retardation
  JOURNAL   Am J Med Genet A 152A (3), 638-645 (2010)
   PUBMED   20186789
  REMARK    GeneRIF: Detected 12 ZNF630 deletions in a total of 1,562 male
            patients with mental retardation from Brazil, USA, Australia, and
            Europe. The breakpoints were analyzed in 10 families, and in all
            cases they were located within two segmental duplications.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA114160.1, DC353064.1,
            BC112139.1, AK000580.1, BX116378.1 and AC244636.2.
            On Mar 16, 2008 this sequence version replaced NP_001032824.1.
            
            Summary: This gene encodes a protein containing an N-terminal
            Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type
            C2H2 zinc finger domains. This gene resides on an area of
            chromosome X that has been implicated in nonsyndromic X-linked
            cognitive disability. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the longest isoform (1). Variants 1 and 3
            encode the same isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK307979.1, SRR18074969.1218476.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2145313
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..657
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     Protein         1..657
                     /product="zinc finger protein 630 isoform 1"
                     /note="dJ54B20.2 (novel KRAB box containing C2H2 type zinc
                     finger protein)"
                     /calculated_mol_wt=75963
     Region          8..68
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          238..257
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          265..285
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(265,268,281,285)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          293..313
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(293,296,309,313)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(298,300,302,304..305,308..309,312,326,328,332..333,
                     336..337,340,354,356,358,360..361,364..365,368)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          321..341
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <329..578
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          349..369
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          377..397
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(377,380,393,397)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          405..425
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(405,408,421,425)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(410,412,414,416..417,420..421,424,438,440,444..445,
                     448..449,452,466,468,470,472..473,476..477,480)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          433..453
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          461..481
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          489..509
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          517..537
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          545..565
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          573..593
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          601..620
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Region          629..646
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..657
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
                     /coded_by="NM_001037735.4:253..2226"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS35237.2"
                     /db_xref="GeneID:57232"
                     /db_xref="HGNC:HGNC:28855"
                     /db_xref="MIM:300819"
ORIGIN      
        1 miesqepvtf edvavdftqe ewqqlnpaqk tlhrdvmlet ynhlvsvgcs gikpdvifkl
       61 ehgkdpwiie selsrwiypd rvkglessqq iisgellfqr eilerapkdn slysvlkiwh
      121 idnqmdryqg nqdrvlrqvt visretltde mgskysafgk mfnrctdlap lsqkfhkfds
      181 censlksnsd llnynrsyar knptkrfrcg rppkynascs vpekegfiht gmepygdsqc
      241 ekvlshkqah vqykkfqare kpnvcsmcgk afikksqlii hqrihtgekp yvcgdcrkaf
      301 sekshlivhq rihtgekpye ctkygrafsr kspftvhqrv htgekpyecf ecpkafsqks
      361 hliihqrvht rekpfecsec rkafcemshl fihqithtgk kpyectecgk tfprktqlii
      421 hqrthtgekp ykcgecgktf cqqshlighq rihtgekpyv ctdcgkafsq kshltghqrl
      481 htgekpymct ecgksfsqks pliihqriht gekpyqcgec gktfsqksll iihlrvhtge
      541 kpyectecgr afslkshlil hqrghtgekp yecsecgkaf cgkspliihq kthprektpe
      601 caesgmtffw ksqmityqrr htgekpsrcs dcgkafcqhv yftghqnpyr kdtlyic
//
LOCUS       NP_001351275             388 aa            linear   PRI 14-DEC-2022
DEFINITION  myocyte-specific enhancer factor 2C isoform 12 [Homo sapiens].
ACCESSION   NP_001351275
VERSION     NP_001351275.1
DBSOURCE    REFSEQ: accession NM_001364346.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 388)
  AUTHORS   Mohajeri K, Yadav R, D'haene E, Boone PM, Erdin S, Gao D,
            Moyses-Oliveira M, Bhavsar R, Currall BB, O'Keefe K, Burt ND,
            Lowther C, Lucente D, Salani M, Larson M, Redin C, Dudchenko O,
            Aiden EL, Menten B, Tai DJC, Gusella JF, Vergult S and Talkowski
            ME.
  TITLE     Transcriptional and functional consequences of alterations to MEF2C
            and its topological organization in neuronal models
  JOURNAL   Am J Hum Genet 109 (11), 2049-2067 (2022)
   PUBMED   36283406
  REMARK    GeneRIF: Transcriptional and functional consequences of alterations
            to MEF2C and its topological organization in neuronal models.
REFERENCE   2  (residues 1 to 388)
  AUTHORS   Chen C and Liu L.
  TITLE     Silencing of lncRNA KLF3-AS1 represses cell growth in osteosarcoma
            via miR-338-3p/MEF2C axis
  JOURNAL   J Clin Lab Anal 36 (11), e24698 (2022)
   PUBMED   36250223
  REMARK    GeneRIF: Silencing of lncRNA KLF3-AS1 represses cell growth in
            osteosarcoma via miR-338-3p/MEF2C axis.
REFERENCE   3  (residues 1 to 388)
  AUTHORS   Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S,
            Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin
            S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S,
            Saugier-Veber P, Frebourg T, Dubourg C, Andrieux J and Bonneau D.
  TITLE     MEF2C haploinsufficiency caused by either microdeletion of the
            5q14.3 region or mutation is responsible for severe mental
            retardation with stereotypic movements, epilepsy and/or cerebral
            malformations
  JOURNAL   J Med Genet 47 (1), 22-29 (2010)
   PUBMED   19592390
  REMARK    GeneRIF: These results strongly suggest that haploinsufficiency of
            MEF2C is responsible for severe mental retardation with stereotypic
            movements, seizures and/or cerebral malformations.
REFERENCE   4  (residues 1 to 388)
  AUTHORS   Zhu B, Ramachandran B and Gulick T.
  TITLE     Alternative pre-mRNA splicing governs expression of a conserved
            acidic transactivation domain in myocyte enhancer factor 2 factors
            of striated muscle and brain
  JOURNAL   J Biol Chem 280 (31), 28749-28760 (2005)
   PUBMED   15834131
  REMARK    GeneRIF: A conserved pattern of alternative splicing in vertebrate
            MEF2 (myocyte enhancer factor 2) genes generates an acidic
            activation domain in MEF2 proteins selectively in tissues where
            MEF2 target genes are highly expressed. (MEF2)
REFERENCE   5  (residues 1 to 388)
  AUTHORS   Zhu B and Gulick T.
  TITLE     Phosphorylation and alternative pre-mRNA splicing converge to
            regulate myocyte enhancer factor 2C activity
  JOURNAL   Mol Cell Biol 24 (18), 8264-8275 (2004)
   PUBMED   15340086
REFERENCE   6  (residues 1 to 388)
  AUTHORS   Molkentin JD, Li L and Olson EN.
  TITLE     Phosphorylation of the MADS-Box transcription factor MEF2C enhances
            its DNA binding activity
  JOURNAL   J Biol Chem 271 (29), 17199-17204 (1996)
   PUBMED   8663403
REFERENCE   7  (residues 1 to 388)
  AUTHORS   Krainc D, Haas M, Ward DC, Lipton SA, Bruns G and Leifer D.
  TITLE     Assignment of human myocyte-specific enhancer binding factor 2C
            (hMEF2C) to human chromosome 5q14 and evidence that MEF2C is
            evolutionarily conserved
  JOURNAL   Genomics 29 (3), 809-811 (1995)
   PUBMED   8575784
REFERENCE   8  (residues 1 to 388)
  AUTHORS   Hobson GM, Krahe R, Garcia E, Siciliano MJ and Funanage VL.
  TITLE     Regional chromosomal assignments for four members of the MADS
            domain transcription enhancer factor 2 (MEF2) gene family to human
            chromosomes 15q26, 19p12, 5q14, and 1q12-q23
  JOURNAL   Genomics 29 (3), 704-711 (1995)
   PUBMED   8575763
REFERENCE   9  (residues 1 to 388)
  AUTHORS   McDermott JC, Cardoso MC, Yu YT, Andres V, Leifer D, Krainc D,
            Lipton SA and Nadal-Ginard B.
  TITLE     hMEF2C gene encodes skeletal muscle- and brain-specific
            transcription factors
  JOURNAL   Mol Cell Biol 13 (4), 2564-2577 (1993)
   PUBMED   8455629
REFERENCE   10 (residues 1 to 388)
  AUTHORS   Leifer D, Krainc D, Yu YT, McDermott J, Breitbart RE, Heng J, Neve
            RL, Kosofsky B, Nadal-Ginard B and Lipton SA.
  TITLE     MEF2C, a MADS/MEF2-family transcription factor expressed in a
            laminar distribution in cerebral cortex
  JOURNAL   Proc Natl Acad Sci U S A 90 (4), 1546-1550 (1993)
   PUBMED   7679508
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008835.6 and AC008525.7.
            
            Summary: This locus encodes a member of the MADS box transcription
            enhancer factor 2 (MEF2) family of proteins, which play a role in
            myogenesis. The encoded protein, MEF2 polypeptide C, has both
            trans-activating and DNA binding activities. This protein may play
            a role in maintaining the differentiated state of muscle cells.
            Mutations and deletions at this locus have been associated with
            severe cognitive disability, stereotypic movements, epilepsy, and
            cerebral malformation. Alternatively spliced transcript variants
            have been described. [provided by RefSeq, Jul 2010].
            
            Transcript Variant: This variant (26), as well as variants 25 and
            27, encodes isoform 12.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..388
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.3"
     Protein         1..388
                     /product="myocyte-specific enhancer factor 2C isoform 12"
                     /note="myocyte-specific enhancer factor 2C; MADS box
                     transcription enhancer factor 2, polypeptide C"
                     /calculated_mol_wt=41702
     Region          2..78
                     /region_name="MADS_MEF2_like"
                     /note="MEF2 (myocyte enhancer factor 2)-like/Type II
                     subfamily of MADS (MCM1, Agamous, Deficiens, and SRF
                     (serum response factor) box family of eukaryotic
                     transcriptional regulators. Binds DNA and exists as hetero
                     and homo-dimers. Differs from SRF-like/Type I...; cd00265"
                     /db_xref="CDD:238165"
     Site            order(2..4,6,8,13,15,19..20,23..24,26..27,30..31,33..34,
                     38)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238165"
     Site            4
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8CFN5; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     Site            order(21,28..29,32..33,35..36,39,44,46,48,54,56,62,65..66,
                     69,72..73)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238165"
     Site            59
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000250|UniProtKB:Q8CFN5; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     Site            59
                     /site_type="other"
                     /note="putative phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:238165"
     Region          91..116
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06413.1)"
     Site            98
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8CFN5; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     Site            106
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8CFN5; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     Region          <107..155
                     /region_name="HJURP_C"
                     /note="Holliday junction regulator protein family
                     C-terminal repeat; pfam12347"
                     /db_xref="CDD:432495"
     Site            110
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8CFN5; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     Site            116
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:15831463; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     Site            119
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:15831463; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     Region          180..224
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06413.1)"
     Site            222
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     Site            228
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     Site            234
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:15831463; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     Site            239
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:15831463; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     Site            240
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     Site            252
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:15831463; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     Site            264
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:15831463; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     Region          271..278
                     /region_name="Beta domain"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06413.1)"
     Site            293
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by MAPK14.
                     /evidence=ECO:0000269|PubMed:9069290,
                     ECO:0000269|PubMed:9384584; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     Site            300
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by MAPK14.
                     /evidence=ECO:0000269|PubMed:9069290,
                     ECO:0000269|PubMed:9384584; propagated from
                     UniProtKB/Swiss-Prot (Q06413.1)"
     CDS             1..388
                     /gene="MEF2C"
                     /gene_synonym="C5DELq14.3; DEL5q14.3; NEDHSIL"
                     /coded_by="NM_001364346.2:373..1539"
                     /note="isoform 12 is encoded by transcript variant 26"
                     /db_xref="GeneID:4208"
                     /db_xref="HGNC:HGNC:6996"
                     /db_xref="MIM:600662"
ORIGIN      
        1 mgrkkiqitr imdernrqvt ftkrkfglmk kayelsvlcd ceialiifns tnklfqyast
       61 dmdkvllkyt eynephesrt nsdivetlrk kglngcdspd pdaddsvghs pesedkyrki
      121 nedidlmisr qrlcavpppn fempvsipvs shnslvysnp vsslgnpnll plahpslqrn
      181 smspgvthrp psagntgglm ggdltsgagt sagngygnpr nspgllvspg nlnknmqaks
      241 pppmnlgmnn rkpdlrvlip pgskntmpsv sedvdlllnq rinnsqsaqs latpvvsvat
      301 ptlpgqgmgg ypsaisttyg teyslssadl sslsgfntas alhlgsvtgw qqqhlhnmpp
      361 salsqlgpyh hpfeipttha prggeisc
//
LOCUS       NP_112739               1226 aa            linear   PRI 17-DEC-2022
DEFINITION  AT-rich interactive domain-containing protein 4B isoform 2 [Homo
            sapiens].
ACCESSION   NP_112739
VERSION     NP_112739.2
DBSOURCE    REFSEQ: accession NM_031371.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1226)
  AUTHORS   Miao X, Xi Z, Zhang Y, Li Z, Huang L, Xin T, Shen R and Wang T.
  TITLE     Circ-SMARCA5 suppresses colorectal cancer progression via
            downregulating miR-39-3p and upregulating ARID4B
  JOURNAL   Dig Liver Dis 52 (12), 1494-1502 (2020)
   PUBMED   32807692
  REMARK    GeneRIF: Circ-SMARCA5 suppresses colorectal cancer progression via
            downregulating miR-39-3p and upregulating ARID4B.
REFERENCE   2  (residues 1 to 1226)
  AUTHORS   Liang YK, Han ZD, Lu JM, Liu ZZ, Zhuo YJ, Zhu XJ, Chen JX, Ye JH,
            Liang YX, He HC and Zhong WD.
  TITLE     Downregulation of ARID4A and ARID4B promote tumor progression and
            directly regulated by microRNA-30d in patient with prostate cancer
  JOURNAL   J Cell Biochem 119 (9), 7245-7255 (2018)
   PUBMED   29797600
  REMARK    GeneRIF: ARID4A and ARID4B may play the role as tumor suppressor
            gene in prostate cancer by inhibiting cell proliferation,
            migration, and invasion. Moreover, co-downregulation of ARID4A and
            ARID4B can predict poorer prognosis in prostate cancer, suggesting
            they might be the novel marker of prognosis and potential
            therapeutic targets for prostate cancer in human.
REFERENCE   3  (residues 1 to 1226)
  AUTHORS   Luo J, Liu L, Zhou N, Shen J, Sun Q, Zhu Y and Chen M.
  TITLE     miR-519b-3p promotes responsiveness to preoperative
            chemoradiotherapy in rectal cancer patients by targeting ARID4B
  JOURNAL   Gene 655, 84-90 (2018)
   PUBMED   29477868
  REMARK    GeneRIF: miR-519b-3p directly binds to the 3' UTR of ARID4B mRNA
            whose expression was inversely correlated with miR-519b-3p
            expression.
REFERENCE   4  (residues 1 to 1226)
  AUTHORS   Wang R, Yu Z, Chen F, Liao C, Wang Q and Huang X.
  TITLE     Overexpression of ARID4B predicts poor survival in patients with
            hepatocellular carcinoma
  JOURNAL   Hum Pathol 73, 114-121 (2018)
   PUBMED   29288040
  REMARK    GeneRIF: our results suggest that ARID4B acts as an oncogene in
            hepatocellular carcinoma and can therefore serve as a biomarker for
            the prognoses of patients with hepatocellular carcinoma
REFERENCE   5  (residues 1 to 1226)
  AUTHORS   Streubel G, Fitzpatrick DJ, Oliviero G, Scelfo A, Moran B, Das S,
            Munawar N, Watson A, Wynne K, Negri GL, Dillon ET, Jammula S,
            Hokamp K, O'Connor DP, Pasini D, Cagney G and Bracken AP.
  TITLE     Fam60a defines a variant Sin3a-Hdac complex in embryonic stem cells
            required for self-renewal
  JOURNAL   EMBO J 36 (15), 2216-2232 (2017)
   PUBMED   28554894
REFERENCE   6  (residues 1 to 1226)
  AUTHORS   Fleischer TC, Yun UJ and Ayer DE.
  TITLE     Identification and characterization of three new components of the
            mSin3A corepressor complex
  JOURNAL   Mol Cell Biol 23 (10), 3456-3467 (2003)
   PUBMED   12724404
REFERENCE   7  (residues 1 to 1226)
  AUTHORS   Bommel H, Xie G, Rossoll W, Wiese S, Jablonka S, Boehm T and
            Sendtner M.
  TITLE     Missense mutation in the tubulin-specific chaperone E (Tbce) gene
            in the mouse mutant progressive motor neuronopathy, a model of
            human motoneuron disease
  JOURNAL   J Cell Biol 159 (4), 563-569 (2002)
   PUBMED   12446740
REFERENCE   8  (residues 1 to 1226)
  AUTHORS   Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M and
            Lamond AI.
  TITLE     Directed proteomic analysis of the human nucleolus
  JOURNAL   Curr Biol 12 (1), 1-11 (2002)
   PUBMED   11790298
REFERENCE   9  (residues 1 to 1226)
  AUTHORS   Cao J, Gao T, Stanbridge EJ and Irie R.
  TITLE     RBP1L1, a retinoblastoma-binding protein-related gene encoding an
            antigenic epitope abundantly expressed in human carcinomas and
            normal testis
  JOURNAL   J Natl Cancer Inst 93 (15), 1159-1165 (2001)
   PUBMED   11481388
REFERENCE   10 (residues 1 to 1226)
  AUTHORS   Zhang Y, Sun ZW, Iratni R, Erdjument-Bromage H, Tempst P, Hampsey M
            and Reinberg D.
  TITLE     SAP30, a novel protein conserved between human and yeast, is a
            component of a histone deacetylase complex
  JOURNAL   Mol Cell 1 (7), 1021-1031 (1998)
   PUBMED   9651585
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL391994.28, BC048959.1,
            AB210032.1 and AL133418.4.
            On Jul 31, 2002 this sequence version replaced NP_112739.1.
            
            Summary: This gene encodes a protein with sequence similarity to
            retinoblastoma-binding protein-1. The encoded protein is a subunit
            of the histone deacetylase-dependant SIN3A transcriptional
            corepressor complex, which functions in diverse cellular processes
            including proliferation, differentiation, apoptosis, oncogenesis,
            and cell fate determination. The gene product is recognized by IgG
            antibody isolated from a breast cancer patient and appears to be a
            molecular marker associated with a broad range of human
            malignancies. Alternate transcriptional splice variants encoding
            different isoforms have been characterized. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (2) lacks an alternate exon
            compared to variant 1 but maintains the reading frame. The
            resulting protein (isoform 2) is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF214114.2, SRR14038196.3178462.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1226
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.3"
     Protein         1..1226
                     /product="AT-rich interactive domain-containing protein 4B
                     isoform 2"
                     /note="Rb-binding protein homolog; retinoblastoma-binding
                     protein 1-like 1; breast carcinoma-associated antigen;
                     breast cancer-associated antigen 1; SIN3A-associated
                     protein 180; sin3-associated polypeptide p180; ARID
                     domain-containing protein 4B; 180 kDa Sin3-associated
                     polypeptide; breast cancer-associated antigen BRCAA1;
                     histone deacetylase complex subunit SAP180; AT rich
                     interactive domain 4B (RBP1-like)"
                     /calculated_mol_wt=137476
     Region          1..61
                     /region_name="Tudor_ARID4B_rpt1"
                     /note="first Tudor domain found in AT-rich interactive
                     domain-containing protein 4B (ARID4B) and similar
                     proteins; cd20460"
                     /db_xref="CDD:410531"
     Site            order(20,23,25,42,45,47)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410531"
     Region          62..118
                     /region_name="Tudor_ARID4B_rpt2"
                     /note="second Tudor domain found in AT-rich interactive
                     domain-containing protein 4B (ARID4B) and similar
                     proteins; cd20462"
                     /db_xref="CDD:410533"
     Site            order(70,74,76,93,95,97)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410533"
     Region          124..166
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4LE39.2)"
     Region          170..263
                     /region_name="RBB1NT"
                     /note="RBB1NT (NUC162) domain; pfam08169"
                     /db_xref="CDD:429857"
     Region          266..306
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4LE39.2)"
     Site            276
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q4LE39.2)"
     Site            295
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JKB5; propagated from
                     UniProtKB/Swiss-Prot (Q4LE39.2)"
     Site            296
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JKB5; propagated from
                     UniProtKB/Swiss-Prot (Q4LE39.2)"
     Region          308..399
                     /region_name="ARID_ARID4B"
                     /note="ARID/BRIGHT DNA binding domain of AT-rich
                     interactive domain-containing protein 4B (ARID4B) and
                     similar proteins; cd16883"
                     /db_xref="CDD:350647"
     Site            order(329..335,360,362..363,366,377,379..381,383)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:350647"
     Region          <451..728
                     /region_name="MDN1"
                     /note="Midasin, AAA ATPase with vWA domain, involved in
                     ribosome maturation [Translation, ribosomal structure and
                     biogenesis]; COG5271"
                     /db_xref="CDD:227596"
     Region          465..473
                     /region_name="Antigenic epitope"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4LE39.2)"
     Site            483
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q4LE39.2)"
     CDS             1..1226
                     /gene="ARID4B"
                     /gene_synonym="BCAA; BRCAA1; RBBP1L1; RBP1L1; SAP180"
                     /coded_by="NM_031371.4:461..4141"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS31060.1"
                     /db_xref="GeneID:51742"
                     /db_xref="HGNC:HGNC:15550"
                     /db_xref="MIM:609696"
ORIGIN      
        1 mkaldeppyl tvgtdvsaky rgafceakik takrlvkvkv tfrhdsstve vqddhikgpl
       61 kvgaivevkn ldgayqeavi nkltdaswyt vvfddgdekt lrrsslclkg erhfaesetl
      121 dqlpltnpeh fgtpvigkkt nrgrrsnhip eeessssssd ededdrkqid ellgkvvcvd
      181 yisldkkkal wfpalvvcpd csdeiavkkd nilvrsfkdg kftsvprkdv heitsdtapk
      241 pdavlkqafe qalefhksrt ipanwktelk edsssseaee eeeeeddeke kednsseeee
      301 eiepfpeere nflqqlykfm edrgtpinkr pvlgyrnlnl fklfrlvhkl ggfdniesga
      361 vwkqvyqdlg ipvlnsaagy nvkcaykkyl ygfeeycrsa niefqmalpe kvvnkqckec
      421 envkeikvke eneteikeik meeerniipr eekpiedeie rkenikpslg skknllesip
      481 thsdqekevn ikkpednenl ddkdddttrv deslnikvea eeekaksgyd ewikadkivr
      541 padknvpkik hrkkiknkld kekdkdekys pkncklrrls kppfqtnpsp emvskldltd
      601 aknsdtahik sieitsilng lqasessaed seqedergaq dmdnngkees kidhltnnrn
      661 dliskeeqns sslleenkvh adlviskpvs ksperlrkdi evlsedtdye edevtkkrkd
      721 vkkdttdkss kpqikrgkrr ycnteeclkt gspgkkeeka knkeslcmen ssnsssdede
      781 eetkakmtpt kkyngleekr kslrttgfys gfsevaekri kllnnsderl qnsrakdrkd
      841 vwssiqgqwp kktlkelfsd sdteaaaspp hpapeegvae eslqtvaeee scspsvelek
      901 pppvnvdskp ieektvevnd rkaefpssgs nsvlntpptt pespssvtvt egsrqqssvt
      961 vseplapnqe evrsiksetd stievdsvag elqdlqsegn sspagfdasv sssssnqpep
     1021 ehpekactgq krvkdaqggg ssskkqkrsh katvvnnkkk gkgtnssdse elsagesitk
     1081 sqpvksvstg mkshstkspa rtqspgkcgk ngdkdpdlke psnrlpkvyk wsfqmsdlen
     1141 mtsaeritil qeklqeirkh ylslksevas idrrrkrlkk keresaatss sssspssssi
     1201 taavmltlae psmssasqng msvecr
//
LOCUS       NP_848649                661 aa            linear   PRI 18-DEC-2022
DEFINITION  kyphoscoliosis peptidase isoform 1 [Homo sapiens].
ACCESSION   NP_848649
VERSION     NP_848649.3
DBSOURCE    REFSEQ: accession NM_178554.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 661)
  AUTHORS   Arif B, Rasheed A, Kumar KR, Fatima A, Abbas G, Wohler E, Sobriera
            N, Lohmann K and Naz S.
  CONSRTM   Baylor-Hopkins Center for Mendelian Genomics
  TITLE     A novel homozygous KY variant causing a complex neurological
            disorder
  JOURNAL   Eur J Med Genet 63 (11), 104031 (2020)
   PUBMED   32818658
  REMARK    GeneRIF: A novel homozygous KY variant causing a complex
            neurological disorder.
REFERENCE   2  (residues 1 to 661)
  AUTHORS   Yogev Y, Perez Y, Noyman I, Madegem AA, Flusser H, Shorer Z, Cohen
            E, Kachko L, Michaelovsky A, Birk R, Koifman A, Drabkin M, Wormser
            O, Halperin D, Kadir R and Birk OS.
  TITLE     Progressive hereditary spastic paraplegia caused by a homozygous KY
            mutation
  JOURNAL   Eur J Hum Genet 25 (8), 966-972 (2017)
   PUBMED   28488683
  REMARK    GeneRIF: Homozygous KY mutation was identified as a cause of
            progressive hereditary spastic paraplegia.  High KY transcript
            levels were demonstrated in muscular organs and lower expression in
            the CNS.
REFERENCE   3  (residues 1 to 661)
  AUTHORS   Wang Y and Tatakis DN.
  TITLE     Human gingiva transcriptome during wound healing
  JOURNAL   J Clin Periodontol 44 (4), 394-402 (2017)
   PUBMED   28005267
  REMARK    GeneRIF: KY expression is significantly downregulated in human
            masticatory mucosa during wound healing
REFERENCE   4  (residues 1 to 661)
  AUTHORS   Hedberg-Oldfors C, Darin N, Olsson Engman M, Orfanos Z, Thomsen C,
            van der Ven PF and Oldfors A.
  TITLE     A new early-onset neuromuscular disorder associated with
            kyphoscoliosis peptidase (KY) deficiency
  JOURNAL   Eur J Hum Genet 24 (12), 1771-1777 (2016)
   PUBMED   27485408
  REMARK    GeneRIF: Homozygous c.1071delG, p.(Thr358Leufs*3) variant of KY
            causes neuromuscular disorder by introducing a premature stop
            codon.
REFERENCE   5  (residues 1 to 661)
  AUTHORS   Straussberg R, Schottmann G, Sadeh M, Gill E, Seifert F, Halevy A,
            Qassem K, Rendu J, van der Ven PF, Stenzel W and Schuelke M.
  TITLE     Kyphoscoliosis peptidase (KY) mutation causes a novel congenital
            myopathy with core targetoid defects
  JOURNAL   Acta Neuropathol 132 (3), 475-478 (2016)
   PUBMED   27484770
  REMARK    GeneRIF: This study shown Kyphoscoliosis peptidase (KY) mutation
            causes a novel congenital myopathy with core targetoid defects in
            two bother.
REFERENCE   6  (residues 1 to 661)
  AUTHORS   Beatham J, Romero R, Townsend SK, Hacker T, van der Ven PF and
            Blanco G.
  TITLE     Filamin C interacts with the muscular dystrophy KY protein and is
            abnormally distributed in mouse KY deficient muscle fibres
  JOURNAL   Hum Mol Genet 13 (22), 2863-2874 (2004)
   PUBMED   15385448
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016931.21 and AC109912.10.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 14, 2007 this sequence version replaced NP_848649.2.
            
            Summary: The protein encoded by this gene belongs to the
            transglutaminase-like superfamily. The protein is involved in the
            function, maturation and stabilization of the neuromuscular
            junction and may be required for normal muscle growth. Mutations in
            this gene are associated with myopathy, myofibrillar, 7. [provided
            by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMN03267757
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000423778.7/ ENSP00000397598.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..661
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.2"
     Protein         1..661
                     /product="kyphoscoliosis peptidase isoform 1"
                     /calculated_mol_wt=75023
     Region          28..47
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBH2.3)"
     Region          115..136
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBH2.3)"
     Region          <181..>361
                     /region_name="CYK3"
                     /note="Cytokinesis protein 3, contains TGc
                     (transglutaminase/protease-like) domain [Cell cycle
                     control, cell division, chromosome partitioning]; COG5279"
                     /db_xref="CDD:227604"
     CDS             1..661
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /coded_by="NM_178554.6:63..2048"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS46920.1"
                     /db_xref="GeneID:339855"
                     /db_xref="HGNC:HGNC:26576"
                     /db_xref="MIM:605739"
ORIGIN      
        1 melkkdinav sidmllivhs ekrraaqgtl sdqqanpssl lqrgggfqgv gngvrrwqkl
       61 egndfhenlv ekqhpqqpqv itsynsqgtq ltvevhprda mpqllkkfsl akrlqgdkng
      121 ntrprqpggk dahaypwdrs slksmsldlq qfekldiyas qvtaksglde lvsdllqeah
      181 tdlervraiw iwichhieyd iaaaqekdrq afkptdilrt qktncdgyag lfermcrlag
      241 vqcmtvpgys kgfgyqtgqs fsgefdhawn avylegrwhl vdstwgsglv dtitskftfl
      301 ynefyflthp alfiedhfpd nknwqllkpp qslrqfennm yhksefynkg mlsahpetsm
      361 irtvngkatv tiescaptlf mfmlngkqeh gllslrkngm klevypptmg thklqifakg
      421 nsdiyssvle ytlkcnyvdm gvqlpaelhq pvgpswfseq mgimkpshpd piihtsdgrc
      481 sisfsveegi nvlaslhgdd gpiteetqrr yifqlhrekq telkvqlpha gkfalkifvk
      541 krqepgnyif vfnylvccan tkvnwpmfpe sfgnwgqdne lleplsgvlp anrnvpfklk
      601 lhgiakvlvk gqdtwpltln hegywegscs tagcqevyvm vlenanhnfy syilkykvna
      661 q
//
LOCUS       NP_001036249            1113 aa            linear   PRI 20-DEC-2022
DEFINITION  coiled-coil domain-containing protein 158 isoform 2 [Homo sapiens].
ACCESSION   NP_001036249
VERSION     NP_001036249.1
DBSOURCE    REFSEQ: accession NM_001042784.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1113)
  AUTHORS   Kottgen A, Pattaro C, Boger CA, Fuchsberger C, Olden M, Glazer NL,
            Parsa A, Gao X, Yang Q, Smith AV, O'Connell JR, Li M, Schmidt H,
            Tanaka T, Isaacs A, Ketkar S, Hwang SJ, Johnson AD, Dehghan A,
            Teumer A, Pare G, Atkinson EJ, Zeller T, Lohman K, Cornelis MC,
            Probst-Hensch NM, Kronenberg F, Tonjes A, Hayward C, Aspelund T,
            Eiriksdottir G, Launer LJ, Harris TB, Rampersaud E, Mitchell BD,
            Arking DE, Boerwinkle E, Struchalin M, Cavalieri M, Singleton A,
            Giallauria F, Metter J, de Boer IH, Haritunians T, Lumley T,
            Siscovick D, Psaty BM, Zillikens MC, Oostra BA, Feitosa M, Province
            M, de Andrade M, Turner ST, Schillert A, Ziegler A, Wild PS,
            Schnabel RB, Wilde S, Munzel TF, Leak TS, Illig T, Klopp N,
            Meisinger C, Wichmann HE, Koenig W, Zgaga L, Zemunik T, Kolcic I,
            Minelli C, Hu FB, Johansson A, Igl W, Zaboli G, Wild SH, Wright AF,
            Campbell H, Ellinghaus D, Schreiber S, Aulchenko YS, Felix JF,
            Rivadeneira F, Uitterlinden AG, Hofman A, Imboden M, Nitsch D,
            Brandstatter A, Kollerits B, Kedenko L, Magi R, Stumvoll M, Kovacs
            P, Boban M, Campbell S, Endlich K, Volzke H, Kroemer HK, Nauck M,
            Volker U, Polasek O, Vitart V, Badola S, Parker AN, Ridker PM,
            Kardia SL, Blankenberg S, Liu Y, Curhan GC, Franke A, Rochat T,
            Paulweber B, Prokopenko I, Wang W, Gudnason V, Shuldiner AR, Coresh
            J, Schmidt R, Ferrucci L, Shlipak MG, van Duijn CM, Borecki I,
            Kramer BK, Rudan I, Gyllensten U, Wilson JF, Witteman JC,
            Pramstaller PP, Rettig R, Hastie N, Chasman DI, Kao WH, Heid IM and
            Fox CS.
  TITLE     New loci associated with kidney function and chronic kidney disease
  JOURNAL   Nat Genet 42 (5), 376-384 (2010)
   PUBMED   20383146
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC035224.1 and BC086869.1.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1113
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.1"
     Protein         1..1113
                     /product="coiled-coil domain-containing protein 158
                     isoform 2"
                     /note="coiled-coil domain-containing protein 158"
                     /calculated_mol_wt=127010
     Region          1..1113
                     /region_name="CCDC158"
                     /note="Coiled-coil domain-containing protein 158;
                     pfam15921"
                     /db_xref="CDD:435022"
     Region          1..26
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M9N0.2)"
     Region          848..902
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M9N0.2)"
     Region          955..1062
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M9N0.2)"
     CDS             1..1113
                     /gene="CCDC158"
                     /coded_by="NM_001042784.1:154..3495"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS43242.1"
                     /db_xref="GeneID:339965"
                     /db_xref="HGNC:HGNC:26374"
ORIGIN      
        1 meskawesnn edllsssgvt snggssssff vssirgtiie ntssagtltq vpffpkyeve
       61 ldsprkiips pgkehfervl eeyshqvkdl qrrlnesnel hekqkfylrq svidlqtklq
      121 emqmerdama dirrresqsq edlrnqlqnt vheleaakcl kedmlkdsnt qieqlrkmml
      181 shegvlqeir silvdfeeas gkkicehdsm stlhfrslgs aiskilreld teisylkgri
      241 fpvedqleal ksesqnkiel llqqhqdrie qlisehevei tgltekassa rsqansiqsq
      301 meiiqeqarn qnsmymrqls dlestvsqlr selreakrmy edkteelekq lvlanselte
      361 arterdqfsq esgnlddqlq klladlhkre kelslekeqn krlwdrdtgn sitidhlrre
      421 ldnrnmevqr leallkalks ecqgqmerqm aaiqgknesl ekvssltaql estkemlrkv
      481 veeltakkmt lessertisd lttslqeker aieatnaeit klrsrvdlkl qelqhlkneg
      541 dhlrnvqtec ealklqmtek dkvieilrqq ienmtqlvgq hgrtagamqv ekaqlekein
      601 drrmelkelk ilkdkkdaki relearvsdl elekvklvna gserlravkd ikqerdqlln
      661 evktsrseln nlseeyevlk rnfrnkseem emttnklkmq lksaqseleq trntlksmeg
      721 sdghamkvam gmqkqitakr gqidalqski qfleeamtna nkekhflkee ksklsqelst
      781 vateknkmag elevlrsqer rlkekvtnme valdkaslqf aecqdiiqrq eqesvrlklq
      841 htldikelqg pgytsnsslk prllqpasvt rshsnvpssq stasflshhs tkantlkedp
      901 trdlkqllqe lrsvineepa vslskteedg rtslgaledr vrdcitessl rsdmchrsnn
      961 slrdstegsk ssetlsrepv tlhagdredp sgcftftsaa spsvknsasr sfnsspkksp
     1021 vhslltssve gsigstsqyr sakpihssds vkdsqsppie ttgktcrklq nrleslqtlv
     1081 edlqlknqam ssmirnqekr iqkvkdqekm llk
//
LOCUS       NP_001335228             492 aa            linear   PRI 22-DEC-2022
DEFINITION  leucine-rich repeat flightless-interacting protein 2 isoform e
            [Homo sapiens].
ACCESSION   NP_001335228 XP_016862963
VERSION     NP_001335228.1
DBSOURCE    REFSEQ: accession NM_001348299.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 492)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 492)
  AUTHORS   Cho IT, Lim Y, Golden JA and Cho G.
  TITLE     Aristaless Related Homeobox (ARX) Interacts with beta-Catenin,
            BCL9, and P300 to Regulate Canonical Wnt Signaling
  JOURNAL   PLoS One 12 (1), e0170282 (2017)
   PUBMED   28103279
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 492)
  AUTHORS   Burger D, Fickentscher C, de Moerloose P and Brandt KJ.
  TITLE     F-actin dampens NLRP3 inflammasome activity via Flightless-I and
            LRRFIP2
  JOURNAL   Sci Rep 6, 29834 (2016)
   PUBMED   27431477
  REMARK    GeneRIF: Data show that the ability of Ca(2+) to accentuate the
            activity of NLRP3 inflammasome is abrogated in Flightless-I (FliI)
            and leucine-rich repeat FliI-interaction protein 2
            (LRRFIP2)-knockdown macrophages.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 492)
  AUTHORS   Jin J, Yu Q, Han C, Hu X, Xu S, Wang Q, Wang J, Li N and Cao X.
  TITLE     LRRFIP2 negatively regulates NLRP3 inflammasome activation in
            macrophages by promoting Flightless-I-mediated caspase-1 inhibition
  JOURNAL   Nat Commun 4, 2075 (2013)
   PUBMED   23942110
REFERENCE   5  (residues 1 to 492)
  AUTHORS   Buchsbaum S, Bercovich B, Ziv T and Ciechanover A.
  TITLE     Modification of the inflammatory mediator LRRFIP2 by the
            ubiquitin-like protein FAT10 inhibits its activity during cellular
            response to LPS
  JOURNAL   Biochem Biophys Res Commun 428 (1), 11-16 (2012)
   PUBMED   23036196
  REMARK    GeneRIF: FATylation of LRRFIP2 occurs on two distinct sites, each
            being modified by a single FAT10 moiety.
REFERENCE   6  (residues 1 to 492)
  AUTHORS   Pinheiro M, Pinto C, Peixoto A, Veiga I, Mesquita B, Henrique R,
            Baptista M, Fragoso M, Sousa O, Pereira H, Marinho C, Moreira Dias
            L and Teixeira MR.
  TITLE     A novel exonic rearrangement affecting MLH1 and the contiguous
            LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families
  JOURNAL   Genet Med 13 (10), 895-902 (2011)
   PUBMED   21785361
  REMARK    GeneRIF: A novel exonic rearrangement affecting MLH1 and the
            contiguous LRRFIP2 is a founder mutation in Portuguese Lynch
            syndrome families
REFERENCE   7  (residues 1 to 492)
  AUTHORS   Gunawardena HP, Huang Y, Kenjale R, Wang H, Xie L and Chen X.
  TITLE     Unambiguous characterization of site-specific phosphorylation of
            leucine-rich repeat Fli-I-interacting protein 2 (LRRFIP2) in
            Toll-like receptor 4 (TLR4)-mediated signaling
  JOURNAL   J Biol Chem 286 (13), 10897-10910 (2011)
   PUBMED   21220426
  REMARK    GeneRIF: Unambiguous characterization of site-specific
            phosphorylation of leucine-rich repeat Fli-I-interacting protein 2
            (LRRFIP2) in Toll-like receptor 4 (TLR4)-mediated signaling.
REFERENCE   8  (residues 1 to 492)
  AUTHORS   Dai P, Jeong SY, Yu Y, Leng T, Wu W, Xie L and Chen X.
  TITLE     Modulation of TLR signaling by multiple MyD88-interacting partners
            including leucine-rich repeat Fli-I-interacting proteins
  JOURNAL   J Immunol 182 (6), 3450-3460 (2009)
   PUBMED   19265123
  REMARK    GeneRIF: LRR-binding MyD88 interactor LRRFIP2 is a positive
            regulator of NF-kappa B activity and is also a positive regulator
            of cytokine production in lipopolysaccharide-stimulated
            macrophages, suggesting a functional role in TLR4-mediated
            inflammatory response.
REFERENCE   9  (residues 1 to 492)
  AUTHORS   Liu J, Bang AG, Kintner C, Orth AP, Chanda SK, Ding S and Schultz
            PG.
  TITLE     Identification of the Wnt signaling activator leucine-rich repeat
            in Flightless interaction protein 2 by a genome-wide functional
            analysis
  JOURNAL   Proc Natl Acad Sci U S A 102 (6), 1927-1932 (2005)
   PUBMED   15677333
  REMARK    GeneRIF: These data suggest that LRRFIP2 plays an important role in
            transducing Wnt signals.
REFERENCE   10 (residues 1 to 492)
  AUTHORS   Fong KS and de Couet HG.
  TITLE     Novel proteins interacting with the leucine-rich repeat domain of
            human flightless-I identified by the yeast two-hybrid system
  JOURNAL   Genomics 58 (2), 146-157 (1999)
   PUBMED   10366446
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC126118.2 and AC006583.31.
            On Jan 26, 2017 this sequence version replaced XP_016862963.1.
            
            Summary: The protein encoded by this gene, along with MYD88, binds
            to the cytosolic tail of toll-like receptor 4 (TLR4), which results
            in activation of nuclear factor kappa B signaling. The
            ubiquitin-like protein FAT10 prevents the interaction of the
            encoded protein and TLR4, thereby inactivating the nuclear factor
            kappa B signaling pathway. In addition, this protein can
            downregulate the NLRP3 inflammasome by recruiting the caspase-1
            inhibitor Flightless-I to the inflammasome complex. [provided by
            RefSeq, Jan 2017].
            
            Transcript Variant: This variant (7) has a longer 5' UTR, and has
            multiple differences in the coding region but maintains the reading
            frame, compared to variant 1. The encoded isoform (e) is shorter,
            compared to isoform a. Variants 7 and 8 both encode the same
            isoform (e).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.242239.1,
                                           SRR1803613.9328.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..492
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     Protein         1..492
                     /product="leucine-rich repeat flightless-interacting
                     protein 2 isoform e"
                     /note="leucine-rich repeat flightless-interacting protein
                     2; LRR FLII-interacting protein 2; leucine rich repeat (in
                     FLII) interacting protein 2"
                     /calculated_mol_wt=56099
     Region          47..417
                     /region_name="LRRFIP"
                     /note="LRRFIP family; pfam09738"
                     /db_xref="CDD:430789"
     CDS             1..492
                     /gene="LRRFIP2"
                     /gene_synonym="HUFI-2"
                     /coded_by="NM_001348299.1:424..1902"
                     /note="isoform e is encoded by transcript variant 7"
                     /db_xref="GeneID:9209"
                     /db_xref="HGNC:HGNC:6703"
                     /db_xref="MIM:614043"
ORIGIN      
        1 mgtpasgrkr tpvkdrfsae dealsniare aearlaakra araeardirm relerqqkee
       61 dseraryshr sshhrpylgv edalsirsvg shrldeksdk qyaenytrps srnsasattp
      121 lsgnssrrgs gdtsslidpd tslselrdiy dlkdqiqdve grymqglkel keslseveek
      181 ykkamvsnaq ldneknnliy qvdtlkdvie eqeeqmaefy reneekskel erqkhmcsvl
      241 qhkmeelkeg lrqrdeliea lekqkeyiac lrnerdmlre eladlqetvk tgekhglvii
      301 pdgtpngdvs hepvagaitv vsqeaaqvle sagegpldvr lrklagekee llsqirklkl
      361 qleeerqkcs rndgtvgdla glqngsdlqf iemqrdanrq iseykfklsk aeqdittleq
      421 sisrlegqvl ryktaaenae kvedelkaek rklqrelrta ldkieememt nshlakrlek
      481 mkanrtalla qq
//
LOCUS       NP_078854                264 aa            linear   PRI 24-DEC-2022
DEFINITION  occludin/ELL domain-containing protein 1 [Homo sapiens].
ACCESSION   NP_078854
VERSION     NP_078854.1
DBSOURCE    REFSEQ: accession NM_024578.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 264)
  AUTHORS   Deng M, Zhang Z, Liu B, Lv Q, Hou K, Che X, Qu X, Liu Y, Zhang Y
            and Hu X.
  TITLE     Low OCEL1 expression is associated with poor prognosis in human
            non-small cell lung cancer
  JOURNAL   Cancer Biomark 27 (4), 519-524 (2020)
   PUBMED   32083572
  REMARK    GeneRIF: Low OCEL1 expression is associated with poor prognosis in
            human non-small cell lung cancer.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC029361.1 and AK026362.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK026362.1, BC029361.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000215061.9/ ENSP00000215061.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..264
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     Protein         1..264
                     /product="occludin/ELL domain-containing protein 1"
                     /calculated_mol_wt=29273
     Region          1..112
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H607.1)"
     Region          153..254
                     /region_name="Occludin_ELL"
                     /note="Occludin homology domain; pfam07303"
                     /db_xref="CDD:429396"
     CDS             1..264
                     /gene="OCEL1"
                     /gene_synonym="FWP009; S863-9"
                     /coded_by="NM_024578.3:23..817"
                     /db_xref="CCDS:CCDS12351.1"
                     /db_xref="GeneID:79629"
                     /db_xref="HGNC:HGNC:26221"
ORIGIN      
        1 mhnpdgsasp tadpgselqt lgqaarrppp praghdaprr trpsarkpls cfsrrpmptr
       61 eppktrgsrg hlhthppgpg pplqglaprg lktsaprppc qpqpgphkak tkkivfedel
      121 lsqallgakk pigaipkghk prphpvpdye lkyppvsser ersryvavfq dqygeflelq
      181 hevgcaqakl rqleallssl pppqsqkeaq vaarvwrefe mkrmdpgfld kqarchylkg
      241 klrhlktqiq kfddqgdseg svyf
//
LOCUS       NP_067012                432 aa            linear   PRI 25-DEC-2022
DEFINITION  cell adhesion molecule 3 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_067012
VERSION     NP_067012.1
DBSOURCE    REFSEQ: accession NM_021189.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 432)
  AUTHORS   Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G,
            Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu
            L, Courel S, Burns DK, Bai Y, Bacon C, Feely SME, Castro D, Peles
            E, Reilly MM, Shy ME and Zuchner S.
  TITLE     A CADM3 variant causes Charcot-Marie-Tooth disease with marked
            upper limb involvement
  JOURNAL   Brain 144 (4), 1197-1213 (2021)
   PUBMED   33889941
  REMARK    GeneRIF: A CADM3 variant causes Charcot-Marie-Tooth disease with
            marked upper limb involvement.
            Erratum:[Brain. 2021 Aug 17;144(7):e64. PMID: 34037698]
REFERENCE   2  (residues 1 to 432)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 432)
  AUTHORS   Miao X, Wang Z, Chen B, Chen Y, Wang X, Jiang L, Jiang S, Hao K and
            Zhang W.
  TITLE     miR-140-5p suppresses retinoblastoma cell proliferation, migration,
            and invasion by targeting CEMIP and CADM3
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 64 (6), 42-47 (2018)
   PUBMED   29808799
  REMARK    GeneRIF: CADM3 expression was increased in retinoblastoma tissues
            and cells. miR-140-5p inhibited CADM3 expression possibly by
            targeting the 3'-UTR.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 432)
  AUTHORS   Yamada T, Kuramitsu K, Rikitsu E, Kurita S, Ikeda W and Takai Y.
  TITLE     Nectin and junctional adhesion molecule are critical cell adhesion
            molecules for the apico-basal alignment of adherens and tight
            junctions in epithelial cells
  JOURNAL   Genes Cells 18 (11), 985-998 (2013)
   PUBMED   24112238
  REMARK    GeneRIF: Nectin-based cell-cell adhesion was formed at the apical
            side of the junctional adhesion molecule (JAM)-based cell-cell
            adhesion; cadherin and claudin were recruited to the nectin-3 and
            JAM-based cell-cell adhesion sites to form AJ- and TJ-like domains.
REFERENCE   5  (residues 1 to 432)
  AUTHORS   Dong X, Xu F, Gong Y, Gao J, Lin P, Chen T, Peng Y, Qiang B, Yuan
            J, Peng X and Rao Z.
  TITLE     Crystal structure of the V domain of human Nectin-like
            molecule-1/Syncam3/Tsll1/Igsf4b, a neural tissue-specific
            immunoglobulin-like cell-cell adhesion molecule
  JOURNAL   J Biol Chem 281 (15), 10610-10617 (2006)
   PUBMED   16467305
  REMARK    GeneRIF: crystallographic analysis of human Nectin-like
            molecule-1/Syncam3/Tsll1/Igsf4b, a neural tissue-specific
            immunoglobulin-like cell-cell adhesion molecule
REFERENCE   6  (residues 1 to 432)
  AUTHORS   Kakunaga S, Ikeda W, Itoh S, Deguchi-Tawarada M, Ohtsuka T,
            Mizoguchi A and Takai Y.
  TITLE     Nectin-like molecule-1/TSLL1/SynCAM3: a neural tissue-specific
            immunoglobulin-like cell-cell adhesion molecule localizing at
            non-junctional contact sites of presynaptic nerve terminals, axons
            and glia cell processes
  JOURNAL   J Cell Sci 118 (Pt 6), 1267-1277 (2005)
   PUBMED   15741237
  REMARK    GeneRIF: Necl-1 is a neural-tissue-specific Ca2+-independent
            immunoglobulin-like cell-cell adhesion molecule which potentially
            has membrane-associated guanylate kinase subfamily member-binding
            activity and localizes at the non-junctional cell-cell contact
            sites
REFERENCE   7  (residues 1 to 432)
  AUTHORS   Fukami T, Satoh H, Williams YN, Masuda M, Fukuhara H, Maruyama T,
            Yageta M, Kuramochi M, Takamoto S and Murakami Y.
  TITLE     Isolation of the mouse Tsll1 and Tsll2 genes, orthologues of the
            human TSLC1-like genes 1 and 2 (TSLL1 and TSLL2)
  JOURNAL   Gene 323, 11-18 (2003)
   PUBMED   14659875
REFERENCE   8  (residues 1 to 432)
  AUTHORS   Shingai T, Ikeda W, Kakunaga S, Morimoto K, Takekuni K, Itoh S,
            Satoh K, Takeuchi M, Imai T, Monden M and Takai Y.
  TITLE     Implications of nectin-like
            molecule-2/IGSF4/RA175/SgIGSF/TSLC1/SynCAM1 in cell-cell adhesion
            and transmembrane protein localization in epithelial cells
  JOURNAL   J Biol Chem 278 (37), 35421-35427 (2003)
   PUBMED   12826663
REFERENCE   9  (residues 1 to 432)
  AUTHORS   Reymond N, Fabre S, Lecocq E, Adelaide J, Dubreuil P and Lopez M.
  TITLE     Nectin4/PRR4, a new afadin-associated member of the nectin family
            that trans-interacts with nectin1/PRR1 through V domain interaction
  JOURNAL   J Biol Chem 276 (46), 43205-43215 (2001)
   PUBMED   11544254
REFERENCE   10 (residues 1 to 432)
  AUTHORS   Fukuhara H, Kuramochi M, Nobukuni T, Fukami T, Saino M, Maruyama T,
            Nomura S, Sekiya T and Murakami Y.
  TITLE     Isolation of the TSLL1 and TSLL2 genes, members of the tumor
            suppressor TSLC1 gene family encoding transmembrane proteins
  JOURNAL   Oncogene 20 (38), 5401-5407 (2001)
   PUBMED   11536053
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK289541.1, AL035403.10,
            AF363367.1 and HY346099.1.
            
            Summary: The protein encoded by this gene is a calcium-independent
            cell-cell adhesion protein that can form homodimers or heterodimers
            with other nectin proteins. The encoded protein has both homophilic
            and heterophilic cell-cell adhesion activity. This gene is reported
            to be a tumor suppressor gene. [provided by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.111665.1,
                                           SRR3476690.827750.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..432
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2"
     Protein         1..432
                     /product="cell adhesion molecule 3 isoform 1 precursor"
                     /note="brain immunoglobulin receptor; TSLC1-like 1;
                     synaptic cell adhesion molecule 3; immunoglobulin
                     superfamily member 4B"
                     /calculated_mol_wt=44679
     sig_peptide     1..24
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2360
     Region          66..160
                     /region_name="IgV_1_Necl-1"
                     /note="First (N-terminal) immunoglobulin (Ig)-like domain
                     of nectin-like molecule-1 (Necl-1); member of the V-set of
                     Ig superfamily (IgSF) domains; cd05882"
                     /db_xref="CDD:143290"
     Region          66..69
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:143290"
     Region          67..85
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:143290"
     Region          70..76
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:143290"
     Region          78..86
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:143290"
     Region          86..91
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:143290"
     Site            order(92,95,100..101,103,109,111,147)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143290"
     Region          92..99
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:143290"
     Region          92..98
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:143290"
     Region          100..111
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:143290"
     Region          102..106
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:143290"
     Region          108..111
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:143290"
     Region          112..147
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:143290"
     Region          116..123
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:143290"
     Region          126..132
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:143290"
     Region          139..147
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:143290"
     Region          148..151
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:143290"
     Region          151..160
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:143290"
     Region          153..160
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:143290"
     Region          161..263
                     /region_name="IgI_2_Necl-1"
                     /note="Second immunoglobulin (Ig)-like domain of
                     nectin-like molcule-1 (Necl-1); member of the I-set of Ig
                     superfamily domains; cd07705"
                     /db_xref="CDD:409502"
     Region          161..164
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409502"
     Region          167..171
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409502"
     Region          180..190
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409502"
     Region          193..202
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409502"
     Region          203..206
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409502"
     Region          209..216
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409502"
     Region          221..231
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409502"
     Region          239..247
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409502"
     Region          255..262
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409502"
     Region          267..336
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          284..288
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          298..302
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          316..320
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          330..335
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          388..403
                     /region_name="4.1m"
                     /note="putative band 4.1 homologues' binding motif;
                     smart00294"
                     /db_xref="CDD:128590"
     CDS             1..432
                     /gene="CADM3"
                     /gene_synonym="BIgR; CMT2FF; IGSF4B; Necl-1; NECL1;
                     synCAM3; TSLL1"
                     /coded_by="NM_021189.5:152..1450"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS1182.1"
                     /db_xref="GeneID:57863"
                     /db_xref="HGNC:HGNC:17601"
                     /db_xref="MIM:609743"
ORIGIN      
        1 mgapaaslll llllfaccwa pgganlsqdg ywqeqdlelg tlapldeais stvwsspdml
       61 asqdsqpwts detvvaggtv vlkcqvkdhe dsslqwsnpa qqtlyfgekr alrdnriqlv
      121 tstphelsis isnvaladeg eytcsiftmp vrtakslvtv lgipqkpiit gyksslrekd
      181 tatlncqssg skpaarltwr kgdqelhgep triqedpngk tftvsssvtf qvtreddgas
      241 ivcsvnhesl kgadrstsqr ievlytptam irpdpphpre gqklllhceg rgnpvpqqyl
      301 wekegsvppl kmtqesalif pflnksdsgt ygctatsnmg sykayytlnv ndpspvpsss
      361 styhaiiggi vafivfllli mliflghyli rhkgtylthe akgsddapda dtaiinaegg
      421 qsggddkkey fi
//
LOCUS       NP_001310874             971 aa            linear   PRI 25-DEC-2022
DEFINITION  DIS3-like exonuclease 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001310874 XP_005254202
VERSION     NP_001310874.1
DBSOURCE    REFSEQ: accession NM_001323945.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 971)
  AUTHORS   Lee JY, Moon S, Kim YK, Lee SH, Lee BS, Park MY, Park JE, Jang Y
            and Han BG.
  TITLE     Genome-based exome sequencing analysis identifies GYG1, DIS3L and
            DDRGK1 are associated with myocardial infarction in Koreans
  JOURNAL   J Genet 96 (6), 1041-1046 (2017)
   PUBMED   29321365
  REMARK    GeneRIF: we screened the susceptibility loci for Myocardial
            infarction (MI) using exome sequencing and validated candidate
            variants in replication sets. We identified that three genes (GYG1,
            DIS3L and DDRGK1) were associated with MI at the discovery and
            replication stages.
REFERENCE   2  (residues 1 to 971)
  AUTHORS   Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB,
            Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G,
            Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J,
            Graslund S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ
            and Greenblatt J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
REFERENCE   3  (residues 1 to 971)
  AUTHORS   Li L, Fridley BL, Kalari K, Niu N, Jenkins G, Batzler A, Abo RP,
            Schaid D and Wang L.
  TITLE     Discovery of genetic biomarkers contributing to variation in drug
            response of cytidine analogues using human lymphoblastoid cell
            lines
  JOURNAL   BMC Genomics 15, 93 (2014)
   PUBMED   24483146
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 971)
  AUTHORS   Lubas M, Damgaard CK, Tomecki R, Cysewski D, Jensen TH and
            Dziembowski A.
  TITLE     Exonuclease hDIS3L2 specifies an exosome-independent 3'-5'
            degradation pathway of human cytoplasmic mRNA
  JOURNAL   EMBO J 32 (13), 1855-1868 (2013)
   PUBMED   23756462
REFERENCE   5  (residues 1 to 971)
  AUTHORS   Staals RH, Bronkhorst AW, Schilders G, Slomovic S, Schuster G, Heck
            AJ, Raijmakers R and Pruijn GJ.
  TITLE     Dis3-like 1: a novel exoribonuclease associated with the human
            exosome
  JOURNAL   EMBO J 29 (14), 2358-2367 (2010)
   PUBMED   20531389
  REMARK    GeneRIF: Data indicate that hDis3L1 is a novel exosome-associated
            exoribonuclease in the cytoplasm of human cells.
REFERENCE   6  (residues 1 to 971)
  AUTHORS   Tomecki R, Kristiansen MS, Lykke-Andersen S, Chlebowski A, Larsen
            KM, Szczesny RJ, Drazkowska K, Pastula A, Andersen JS, Stepien PP,
            Dziembowski A and Jensen TH.
  TITLE     The human core exosome interacts with differentially localized
            processive RNases: hDIS3 and hDIS3L
  JOURNAL   EMBO J 29 (14), 2342-2357 (2010)
   PUBMED   20531386
  REMARK    GeneRIF: Data show that hDIS3 and hDIS3L are active exonucleases,
            but only hDIS3 has retained endonucleolytic activity, and suggest
            that three different ribonucleases can serve as catalytic subunits
            for the exosome in human cells.
REFERENCE   7  (residues 1 to 971)
  AUTHORS   Slomovic S, Fremder E, Staals RH, Pruijn GJ and Schuster G.
  TITLE     Addition of poly(A) and poly(A)-rich tails during RNA degradation
            in the cytoplasm of human cells
  JOURNAL   Proc Natl Acad Sci U S A 107 (16), 7407-7412 (2010)
   PUBMED   20368444
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC055855.9.
            On Apr 23, 2016 this sequence version replaced XP_005254202.1.
            
            Summary: The cytoplasmic RNA exosome complex degrades unstable
            mRNAs and is involved in the regular turnover of other mRNAs. The
            protein encoded by this gene contains 3'-5' exoribonuclease
            activity and is a catalytic component of this complex. [provided by
            RefSeq, May 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.103133.1,
                                           SRR1803614.277865.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..971
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.31"
     Protein         1..971
                     /product="DIS3-like exonuclease 1 isoform 2"
                     /EC_number="3.1.13.-"
                     /note="DIS3-like exonuclease 1; DIS3 mitotic control
                     homolog-like"
                     /calculated_mol_wt=110988
     Region          <1..105
                     /region_name="PIN_SF"
                     /note="PIN (PilT N terminus) domain: Superfamily; cl28905"
                     /db_xref="CDD:452894"
     Region          182..872
                     /region_name="VacB"
                     /note="Exoribonuclease R [Transcription]; COG0557"
                     /db_xref="CDD:223631"
     CDS             1..971
                     /gene="DIS3L"
                     /gene_synonym="DIS3L1"
                     /coded_by="NM_001323945.2:745..3660"
                     /note="isoform 2 is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS10214.1"
                     /db_xref="GeneID:115752"
                     /db_xref="HGNC:HGNC:28698"
                     /db_xref="MIM:614183"
ORIGIN      
        1 mqtacqavqh qrgrrqynkl rnllkdarhd cilfanefqq ccylprerge smekwqtrsi
       61 ynaavwyyhh cqdrmpivmv tedeeaiqqy gsetegvfvi tfknyldnfw pdlkaahelc
      121 dsilqsrrer enesqeshgk eypehlplev leagiksgry iqgilnvnkh raqieafvrl
      181 qgasskdsdl vsdilihgmk arnrsihgdv vvvellpkne wkgrtvalce ndcddkasge
      241 spsepmptgr vvgilqknwr dyvvtfpske evqsqgknaq kilvtpwdyr ipkiristqq
      301 aetlqdfrvv vridswests vypnghfvrv lgrigdlege iatilvensi svipfseaqm
      361 cempvntpes pwkvspeeeq krkdlrkshl vfsidpkgce dvddtlsvrt lnngnlelgv
      421 hiadvthfva pnsyidiear trattyylad rrydmlpsvl sadlcsllgg vdryavsimw
      481 eldkasyeik kvwygrtiir sayklfyeaa qelldgnlsv vddipefkdl deksrqakle
      541 elvwaigklt diarhvrakr dgcgaleleg vevcvqlddk knihdlipkq plevhetvae
      601 cmilanhwva kkiwesfphq allrqhppph qeffselrec akakgffidt rsnktladsl
      661 dnandphdpi vnrllrsmat qamsnalyfs tgscaeeefh hyglaldkyt hftspirrys
      721 divvhrllma aiskdkkmei kgnlfsnkdl eelcrhinnr nqaaqhsqkq stelfqcmyf
      781 kdkdpateer cisdgviysi rtngvllfip rfgikgaayl knkdglvisc gpdscsewkp
      841 gslqrfqnki tstttdgesv tfhlfdhvtv risiqasrch sdtirleiis nkpykipnte
      901 lihqsspllk selvkevtks veeaqlaqev kvniiqeeyq eyrqtkgrsl ytlleeirdl
      961 alldvsnnyg i
//
LOCUS       NP_071449                959 aa            linear   PRI 25-DEC-2022
DEFINITION  xylosyltransferase 1 precursor [Homo sapiens].
ACCESSION   NP_071449 XP_941569
VERSION     NP_071449.1
DBSOURCE    REFSEQ: accession NM_022166.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 959)
  AUTHORS   Fischer B, Kuhn J, Ly TD, Schmidt V, Kleine A, Hendig D, Knabbe C
            and Faust I.
  TITLE     Development of a xylosyltransferase-I-selective UPLC MS/MS activity
            assay using a specific acceptor peptide
  JOURNAL   Biochimie 184, 88-94 (2021)
   PUBMED   33609631
  REMARK    GeneRIF: Development of a xylosyltransferase-I-selective UPLC MS/MS
            activity assay using a specific acceptor peptide.
REFERENCE   2  (residues 1 to 959)
  AUTHORS   Ly TD, Kleine A, Plumers R, Fischer B, Schmidt V, Hendig D, Distler
            JHW, Kuhn J, Knabbe C and Faust I.
  TITLE     Cytokine-mediated induction of human xylosyltransferase-I in
            systemic sclerosis skin fibroblasts
  JOURNAL   Biochem Biophys Res Commun 549, 34-39 (2021)
   PUBMED   33662666
  REMARK    GeneRIF: Cytokine-mediated induction of human xylosyltransferase-I
            in systemic sclerosis skin fibroblasts.
REFERENCE   3  (residues 1 to 959)
  AUTHORS   Zhou Y, Little PJ, Cao Y, Ta HT and Kamato D.
  TITLE     Lysophosphatidic acid receptor 5 transactivation of TGFBR1
            stimulates the mRNA expression of proteoglycan synthesizing genes
            XYLT1 and CHST3
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1867 (12), 118848 (2020)
   PUBMED   32920014
  REMARK    GeneRIF: Lysophosphatidic acid receptor 5 transactivation of TGFBR1
            stimulates the mRNA expression of proteoglycan synthesizing genes
            XYLT1 and CHST3.
REFERENCE   4  (residues 1 to 959)
  AUTHORS   Ly TD, Plumers R, Fischer B, Schmidt V, Hendig D, Kuhn J, Knabbe C
            and Faust I.
  TITLE     Activin A-Mediated Regulation of XT-I in Human Skin Fibroblasts
  JOURNAL   Biomolecules 10 (4), 609 (2020)
   PUBMED   32295230
  REMARK    GeneRIF: Activin A-Mediated Regulation of XT-I in Human Skin
            Fibroblasts.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 959)
  AUTHORS   Schon S, Schulz V, Prante C, Hendig D, Szliska C, Kuhn J, Kleesiek
            K and Gotting C.
  TITLE     Polymorphisms in the xylosyltransferase genes cause higher serum
            XT-I activity in patients with pseudoxanthoma elasticum (PXE) and
            are involved in a severe disease course
  JOURNAL   J Med Genet 43 (9), 745-749 (2006)
   PUBMED   16571645
  REMARK    GeneRIF: Variations in the XYLT-II gene are genetic co-factors in
            the severity of PXE.
REFERENCE   6  (residues 1 to 959)
  AUTHORS   Gotting C, Muller S, Schottler M, Schon S, Prante C, Brinkmann T,
            Kuhn J and Kleesiek K.
  TITLE     Analysis of the DXD motifs in human xylosyltransferase I required
            for enzyme activity
  JOURNAL   J Biol Chem 279 (41), 42566-42573 (2004)
   PUBMED   15294915
  REMARK    GeneRIF: DXD motifs in human xylosyltransferase I are required for
            enzyme activity
REFERENCE   7  (residues 1 to 959)
  AUTHORS   Gotting C, Kuhn J, Brinkmann T and Kleesiek K.
  TITLE     Xylosyltransferase activity in seminal plasma of infertile men
  JOURNAL   Clin Chim Acta 317 (1-2), 199-202 (2002)
   PUBMED   11814476
REFERENCE   8  (residues 1 to 959)
  AUTHORS   Kuhn J, Gotting C, Schnolzer M, Kempf T, Brinkmann T and Kleesiek
            K.
  TITLE     First isolation of human UDP-D-xylose: proteoglycan core protein
            beta-D-xylosyltransferase secreted from cultured JAR
            choriocarcinoma cells
  JOURNAL   J Biol Chem 276 (7), 4940-4947 (2001)
   PUBMED   11087729
REFERENCE   9  (residues 1 to 959)
  AUTHORS   Gotting C, Kuhn J, Zahn R, Brinkmann T and Kleesiek K.
  TITLE     Molecular cloning and expression of human UDP-d-Xylose:proteoglycan
            core protein beta-d-xylosyltransferase and its first isoform XT-II
  JOURNAL   J Mol Biol 304 (4), 517-528 (2000)
   PUBMED   11099377
REFERENCE   10 (residues 1 to 959)
  AUTHORS   Gotting C, Sollberg S, Kuhn J, Weilke C, Huerkamp C, Brinkmann T,
            Krieg T and Kleesiek K.
  TITLE     Serum xylosyltransferase: a new biochemical marker of the sclerotic
            process in systemic sclerosis
  JOURNAL   J Invest Dermatol 112 (6), 919-924 (1999)
   PUBMED   10383739
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009152.8, AI524006.1,
            AJ539163.1, AC099494.3 and AC109446.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 4, 2006 this sequence version replaced XP_941569.1.
            
            Summary: This locus encodes a xylosyltransferase enzyme. The
            encoded protein catalyzes transfer of UDP-xylose to serine residues
            of an acceptor protein substrate. This transfer reaction is
            necessary for biosynthesis of glycosaminoglycan chains. Mutations
            in this gene have been associated with increased severity of
            pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ539163.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261381.7/ ENSP00000261381.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..959
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3"
     Protein         1..959
                     /product="xylosyltransferase 1 precursor"
                     /EC_number="2.4.2.26"
                     /note="beta-D-xylosyltransferase 1; xylosyltransferase
                     iota; peptide O-xylosyltransferase 1; xylosyltransferase
                     I"
                     /calculated_mol_wt=103872
     sig_peptide     1..34
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3716
     Site            18..38
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86Y38.1)"
     Region          42..259
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86Y38.1)"
     Site            226
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q86Y38.1)"
     Region          328..581
                     /region_name="Branch"
                     /note="Core-2/I-Branching enzyme; cl27418"
                     /db_xref="CDD:452742"
     Site            421
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q86Y38.1)"
     Region          613..793
                     /region_name="Xylo_C"
                     /note="Xylosyltransferase C terminal; pfam12529"
                     /db_xref="CDD:432612"
     Site            777
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:29681470,
                     ECO:0007744|PDB:6EJ7, ECO:0007744|PDB:6EJ8,
                     ECO:0007744|PDB:6FOA; propagated from UniProtKB/Swiss-Prot
                     (Q86Y38.1)"
     Region          940..959
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86Y38.1)"
     CDS             1..959
                     /gene="XYLT1"
                     /gene_synonym="DBQD2; PXYLT1; XT-I; XT1; XTI; xylT-I;
                     XYLTI"
                     /coded_by="NM_022166.4:165..3044"
                     /db_xref="CCDS:CCDS10569.1"
                     /db_xref="GeneID:64131"
                     /db_xref="HGNC:HGNC:15516"
                     /db_xref="MIM:608124"
ORIGIN      
        1 mvaapcarrl arrshsalla altvlllqtl vvwnfsslds gagerrggaa vgggeqpppa
       61 paprrerrdl paepaaargg gggggggggg rgpqarargg gpgeprgqqp asrgalpara
      121 ldphpsplit letqdgyfsh rpkekvrtds nnensvpkdf envdnsnfap rtqkqkhqpe
      181 lakkppsrqk ellkrkleqq ekgkghtfpg kgpgevlppg draaansshg kdvsrpphar
      241 ktggsspetk ydqppkcdis gkeaisalsr akskhcrqei getycrhklg llmpekvtrf
      301 cplegkankn vqwdedsvey mpanpvriaf vlvvhgrasr qlqrmfkaiy hkdhfyyihv
      361 dkrsnylhrq vlqvsrqysn vrvtpwrmat iwggasllst ylqsmrdlle mtdwpwdffi
      421 nlsaadypir tndqlvafls ryrdmnflks hgrdnarfir kqgldrlfle cdahmwrlgd
      481 rripegiavd ggsdwfllnr rfveyvtfst ddlvtkmkqf ysytllpaes ffhtvlensp
      541 hcdtmvdnnl ritnwnrklg ckcqykhivd wcgcspndfk pqdfhrfqqt arptffarkf
      601 eavvnqeiig qldyylygny pagtpglrsy wenvydepdg ihslsdvtlt lyhsfarlgl
      661 rraetslhtd genscryypm ghpasvhlyf ladrfqgfli khhatnlavs kletletwvm
      721 pkkvfkiasp psdfgrlqfs evgtdwdake rlfrnfggll gpmdepvgmq kwgkgpnvtv
      781 tviwvdpvnv iaatydilie staefthykp plnlplrpgv wtvkilhhwv pvaetkflva
      841 pltfsnrqpi kpeealklhn gplrnaymeq sfqslnpvls lpinpaqveq arrnaastgt
      901 alegwldslv ggmwtamdic atgptacpvm qtcsqtawss fspdpkselg avkpdgrlr
//
LOCUS       NP_599027                275 aa            linear   PRI 26-DEC-2022
DEFINITION  WD repeat and SOCS box-containing protein 1 isoform 2 [Homo
            sapiens].
ACCESSION   NP_599027
VERSION     NP_599027.1
DBSOURCE    REFSEQ: accession NM_134265.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 275)
  AUTHORS   Carneiro VL, da Silva HBF, Queiroz GA, Veiga RV, Oliveira PRS,
            Carneiro NVQ, Pires AO, da Silva RR, Sena F, Belitardo E,
            Nascimento R, Silva M, Marques CR, Costa RDS, Alcantra-Neves NM,
            Barreto ML, Cooper PJ and Figueiredo CA.
  TITLE     WSB1 and IL21R Genetic Variants Are Involved in Th2 Immune
            Responses to Ascaris lumbricoides
  JOURNAL   Front Immunol 12, 622051 (2021)
   PUBMED   33692795
  REMARK    GeneRIF: WSB1 and IL21R Genetic Variants Are Involved in Th2 Immune
            Responses to Ascaris lumbricoides.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 275)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 275)
  AUTHORS   Xu H, Han H and Tian G.
  TITLE     High expression of WSB1 is associated with poor prognosis in
            hepatocellular carcinoma and affects epithelial-mesenchymal
            transition
  JOURNAL   J BUON 25 (4), 1890-1896 (2020)
   PUBMED   33099929
  REMARK    GeneRIF: High expression of WSB1 is associated with poor prognosis
            in hepatocellular carcinoma and affects epithelial-mesenchymal
            transition.
REFERENCE   4  (residues 1 to 275)
  AUTHORS   Poujade FA, Mannion A, Brittain N, Theodosi A, Beeby E, Leszczynska
            KB, Hammond EM, Greenman J, Cawthorne C and Pires IM.
  TITLE     WSB-1 regulates the metastatic potential of hormone receptor
            negative breast cancer
  JOURNAL   Br J Cancer 118 (9), 1229-1237 (2018)
   PUBMED   29540773
  REMARK    GeneRIF: WSB-1 may be an important regulator of aggressive
            metastatic disease in hormone receptor-negative breast cancer.
            WSB-1 could therefore represent a novel regulator and therapeutic
            target for secondary breast cancer in these patients.
REFERENCE   5  (residues 1 to 275)
  AUTHORS   Kim JJ, Lee SB, Yi SY, Han SA, Kim SH, Lee JM, Tong SY, Yin P, Gao
            B, Zhang J and Lou Z.
  TITLE     WSB1 overcomes oncogene-induced senescence by targeting ATM for
            degradation
  JOURNAL   Cell Res 27 (2), 274-293 (2017)
   PUBMED   27958289
  REMARK    GeneRIF: WSB1 is one of the key players of early oncogenic events
            through ATM degradation and destruction of the tumorigenesis
            barrier.
REFERENCE   6  (residues 1 to 275)
  AUTHORS   Kile BT, Schulman BA, Alexander WS, Nicola NA, Martin HM and Hilton
            DJ.
  TITLE     The SOCS box: a tale of destruction and degradation
  JOURNAL   Trends Biochem Sci 27 (5), 235-241 (2002)
   PUBMED   12076535
  REMARK    Review article
REFERENCE   7  (residues 1 to 275)
  AUTHORS   Kamura T, Burian D, Yan Q, Schmidt SL, Lane WS, Querido E, Branton
            PE, Shilatifard A, Conaway RC and Conaway JW.
  TITLE     Muf1, a novel Elongin BC-interacting leucine-rich repeat protein
            that can assemble with Cul5 and Rbx1 to reconstitute a ubiquitin
            ligase
  JOURNAL   J Biol Chem 276 (32), 29748-29753 (2001)
   PUBMED   11384984
REFERENCE   8  (residues 1 to 275)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   9  (residues 1 to 275)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   10 (residues 1 to 275)
  AUTHORS   Vasiliauskas D, Hancock S and Stern CD.
  TITLE     SWiP-1: novel SOCS box containing WD-protein regulated by
            signalling centres and by Shh during development
  JOURNAL   Mech Dev 82 (1-2), 79-94 (1999)
   PUBMED   10354473
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC308179.1, AF240696.1,
            BU189299.1, BC048007.1, AK074917.1 and AC026254.9.
            
            Summary: This gene encodes a member of the WD-protein subfamily.
            This protein shares a high sequence identity to mouse and chick
            proteins. It contains several WD-repeats spanning most of the
            protein and an SOCS box in the C-terminus. Alternatively spliced
            transcript variants encoding distinct isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks two in-frame exons in
            the 5' coding region, compared to variant 1. The encoded isoform
            (2) is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.245893.1, AF240696.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..275
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.1"
     Protein         1..275
                     /product="WD repeat and SOCS box-containing protein 1
                     isoform 2"
                     /note="SOCS box-containing WD protein SWiP-1; WD repeat
                     and SOCS box-containing protein 1"
                     /calculated_mol_wt=30752
     Region          <14..233
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Region          28..66
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          71..107
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          115..153
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          168..207
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          236..275
                     /region_name="SOCS_WSB1_SWIP1"
                     /note="SOCS (suppressors of cytokine signaling) box of
                     WSB1/SWiP1-like proteins. This subfamily contains WSB-1
                     (SOCS-box-containing WD-40 protein), part of an E3
                     ubiquitin ligase for the thyroid-hormone-activating type 2
                     iodothyronine deiodinase (D2) and SWiP-1...; cd03746"
                     /db_xref="CDD:239715"
     Site            order(237..242,248,255,261,266)
                     /site_type="other"
                     /note="putative elongin B/C interaction [polypeptide
                     binding]"
                     /db_xref="CDD:239715"
     CDS             1..275
                     /gene="WSB1"
                     /gene_synonym="SWIP1; WSB-1"
                     /coded_by="NM_134265.4:283..1110"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS11221.1"
                     /db_xref="GeneID:26118"
                     /db_xref="HGNC:HGNC:19221"
                     /db_xref="MIM:610091"
ORIGIN      
        1 masfpprvne keigklllnl vdhtevvrdl tfapdgslil vsasrdktlr vwdlkddgnm
       61 mkvlrghqnw vyscafspds smlcsvgask avflwnmdky tmirkleghh hdvvacdfsp
      121 dgallatasy dtrvyiwdph ngdilmefgh lfppptpifa ggandrwvrs vsfshdglhv
      181 asladdkmvr fwridedypv qvaplsnglc cafstdgsvl aagthdgsvy fwatprqvps
      241 lqhlcrmsir rvmptqevqe lpipskllef lsyri
//
LOCUS       NP_001336053            1463 aa            linear   PRI 27-DEC-2022
DEFINITION  NK-tumor recognition protein isoform c [Homo sapiens].
ACCESSION   NP_001336053 XP_005265230
VERSION     NP_001336053.1
DBSOURCE    REFSEQ: accession NM_001349124.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1463)
  AUTHORS   Davis TL, Walker JR, Campagna-Slater V, Finerty PJ, Paramanathan R,
            Bernstein G, MacKenzie F, Tempel W, Ouyang H, Lee WH, Eisenmesser
            EZ and Dhe-Paganon S.
  TITLE     Structural and biochemical characterization of the human
            cyclophilin family of peptidyl-prolyl isomerases
  JOURNAL   PLoS Biol 8 (7), e1000439 (2010)
   PUBMED   20676357
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1463)
  AUTHORS   Sakashita E, Tatsumi S, Werner D, Endo H and Mayeda A.
  TITLE     Human RNPS1 and its associated factors: a versatile alternative
            pre-mRNA splicing regulator in vivo
  JOURNAL   Mol Cell Biol 24 (3), 1174-1187 (2004)
   PUBMED   14729963
  REMARK    Erratum:[Mol Cell Biol. 2004 Apr;24(7):3068]
REFERENCE   3  (residues 1 to 1463)
  AUTHORS   Chambers CA, Gallinger S, Anderson SK, Giardina S, Ortaldo JR,
            Hozumi N and Roder J.
  TITLE     Expression of the NK-TR gene is required for NK-like activity in
            human T cells
  JOURNAL   J Immunol 152 (6), 2669-2674 (1994)
   PUBMED   8144875
REFERENCE   4  (residues 1 to 1463)
  AUTHORS   Rinfret A and Anderson SK.
  TITLE     IL-2 regulates the expression of the NK-TR gene via an alternate
            RNA splicing mechanism
  JOURNAL   Mol Immunol 30 (14), 1307-1313 (1993)
   PUBMED   8413330
REFERENCE   5  (residues 1 to 1463)
  AUTHORS   Young HA, Jenkins NA, Copeland NG, Simek S, Lerman MI, Zbar B,
            Glenn G, Ortaldo JR and Anderson SK.
  TITLE     Localization of a novel natural killer triggering receptor locus to
            human chromosome 3p23-p21 and mouse chromosome 9
  JOURNAL   Genomics 16 (2), 548-549 (1993)
   PUBMED   8314596
REFERENCE   6  (residues 1 to 1463)
  AUTHORS   Anderson SK, Gallinger S, Roder J, Frey J, Young HA and Ortaldo JR.
  TITLE     A cyclophilin-related protein involved in the function of natural
            killer cells
  JOURNAL   Proc Natl Acad Sci U S A 90 (2), 542-546 (1993)
   PUBMED   8421688
REFERENCE   7  (residues 1 to 1463)
  AUTHORS   Frey JL, Bino T, Kantor RR, Segal DM, Giardina SL, Roder J,
            Anderson S and Ortaldo JR.
  TITLE     Mechanism of target cell recognition by natural killer cells:
            characterization of a novel triggering molecule restricted to CD3-
            large granular lymphocytes
  JOURNAL   J Exp Med 174 (6), 1527-1536 (1991)
   PUBMED   1720812
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092047.3 and AC006059.3.
            On Mar 4, 2017 this sequence version replaced XP_005265230.1.
            
            Summary: This gene encodes a membrane-anchored protein with a
            hydrophobic amino terminal domain and a cyclophilin-like PPIase
            domain. It is present on the surface of natural killer cells and
            facilitates their binding to targets. Its expression is regulated
            by IL2 activation of the cells. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) encodes the longest isoform
            (c).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.56555.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1463
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.1"
     Protein         1..1463
                     /product="NK-tumor recognition protein isoform c"
                     /EC_number="5.2.1.8"
                     /note="natural killer triggering receptor; NK-tumor
                     recognition protein; natural-killer cells
                     cyclophilin-related protein; NK-TR protein; natural
                     killer-tumor recognition sequence; PPIase; rotamase;
                     peptidyl-prolyl cis-trans isomerase NKTR"
                     /calculated_mol_wt=165633
     Region          7..174
                     /region_name="cyclophilin"
                     /note="cyclophilin-type peptidylprolyl cis- trans
                     isomerases. This family contains eukaryotic, bacterial and
                     archeal proteins which exhibit a peptidylprolyl cis- trans
                     isomerases activity (PPIase, Rotamase) and in addition
                     bind the immunosuppressive drug...; cl00197"
                     /db_xref="CDD:444740"
     Site            order(66,68,71..72,74,112..113,122,124,132..133,137)
                     /site_type="active"
                     /db_xref="CDD:238194"
     Region          187..591
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P30414.2)"
     Site            379
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P30414.2)"
     Site            401
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30414.2)"
     Site            416
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30414.2)"
     Site            463
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30414.2)"
     Site            471
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30414.2)"
     Region          607..627
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P30414.2)"
     Site            613
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P30415; propagated from
                     UniProtKB/Swiss-Prot (P30414.2)"
     Site            648
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30414.2)"
     Region          658..1072
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P30414.2)"
     Site            866
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30414.2)"
     Site            887
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P30414.2)"
     Site            889
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30414.2)"
     Site            891
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P30414.2)"
     Site            907
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P30415; propagated from
                     UniProtKB/Swiss-Prot (P30414.2)"
     Site            1077
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30414.2)"
     Region          1129..1156
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P30414.2)"
     Site            1146
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P30414.2)"
     Site            1155
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P30414.2)"
     Region          1169..1215
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P30414.2)"
     Site            1203
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30414.2)"
     Region          1311..1348
                     /region_name="Arg/Ser tandem repeat-rich"
                     /note="propagated from UniProtKB/Swiss-Prot (P30414.2)"
     CDS             1..1463
                     /gene="NKTR"
                     /gene_synonym="p104"
                     /coded_by="NM_001349124.2:117..4508"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="GeneID:4820"
                     /db_xref="HGNC:HGNC:7833"
                     /db_xref="MIM:161565"
ORIGIN      
        1 mgaqdrpqch fdieinrepv grimfqlfsd icpktcknfl clcsgekglg kttgkklcyk
       61 gstfhrvvkn fmiqggdfse gngkggesiy ggyfkdenfi lkhdraflls manrgkhtng
      121 sqffittkpa phldgvhvvf glvisgfevi eqienlktda asrpyadvrv idcgvlatks
      181 ikdvfekkrk kpthsegsds ssnssssses sseseleher srrrkhkrrp kvkrskkrrk
      241 eassseeprn khamnpkghs ersdtnekrs vdssakrekp vvrpeeippv penrfllrrd
      301 mpvvtaepep kipdvapivs dqkpsvsksg rkikgrgtir yhtpprsrsc sesddddsse
      361 tpphwkeemq rlrayrppsg ekwskgdkls dpcssrwder slsqrsrsws yngyysdlst
      421 arhsghhkkr rkekkvkhkk kgkkqkhcrr hkqtkkrril ipsdiessks strrmksscd
      481 rerssrsssl sshhsskrdw sksdkdvqss lthssrdsyr skshsqsysr gssrsrtask
      541 ssshsrsrsk srsssksghr krasksprkt asqlsenkpv kteplratma qnenvvvqpv
      601 vaenipvipl sdspppsrwk pgqkpwkpsy eriqemkakt thllpiqsty slaniketgs
      661 sssyhkrekn sesdqstysk ysdrssessp rsrsrssrsr sysrsytrsr slasshsrsr
      721 spssrshsrn kysdhsqcsr sssytsissd dgrrakrrlr ssgkknsvsh kkhssssekt
      781 lhskyvkgrd rsscvrkyse srssldyssd seqssvqatq saqekekqgq merthnkqek
      841 nrgeekskse recphskkrt lkenlsdhlr ngskpkrkny agskwdsesn serdvtknsk
      901 ndshpssdke egeatsdses evseihikvk pttksstnts lpddngawks skqrtstsds
      961 egscsnsenn rgkpqkhkhg skenlkreht kkvkeklkgk kdkkhkapkr kqafhwqppl
     1021 efgeeeeeei ddkqvtqesk ekkvsennet ikdnilktek sseedlsgkh dtvtvssdld
     1081 qftkddskls isptalntee nvaclqniqh veesvpngve dvlqtddnme ictpdrsspa
     1141 kveetsplgn arldtpdini vlkqdmateh pqaevvkqes smseskvlge vgkqdsssas
     1201 lasagestgk kevaeksqin lidkkwkplq gvgnlaapna atssavevkv lttvpemkpq
     1261 glrieikskn kvrpgslfde vrktarlnrr prnqesssde qtpsrdddsq srspsrsrsk
     1321 setksrhrtr svsyshsrsr srsstssyrs rsysrsrsrg wysrgrtrsr sssyrsyksh
     1381 rtssrsrsrs ssydphsrss rsytydsyys rsrsrsrsqr sdsyhrgrsy nrrsrscrsy
     1441 gsdsesdrsy shhrspsess rys
//
LOCUS       NP_001287705             354 aa            linear   PRI 29-DEC-2022
DEFINITION  zinc finger protein 140 isoform 2 [Homo sapiens].
ACCESSION   NP_001287705
VERSION     NP_001287705.1
DBSOURCE    REFSEQ: accession NM_001300776.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 354)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 354)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   3  (residues 1 to 354)
  AUTHORS   Nishimura T, Narita T, Miyazaki E, Ito T, Nishimoto N, Yoshizaki K,
            Martial JA, Bellfroid EJ, Vissing H and Taniyama T.
  TITLE     Characterization of the human Fc gamma RIIB gene promoter: human
            zinc-finger proteins (ZNF140 and ZNF91) that bind to different
            regions function as transcription repressors
  JOURNAL   Int Immunol 13 (8), 1075-1084 (2001)
   PUBMED   11470777
REFERENCE   4  (residues 1 to 354)
  AUTHORS   Vissing H, Meyer WK, Aagaard L, Tommerup N and Thiesen HJ.
  TITLE     Repression of transcriptional activity by heterologous KRAB domains
            present in zinc finger proteins
  JOURNAL   FEBS Lett 369 (2-3), 153-157 (1995)
   PUBMED   7649249
REFERENCE   5  (residues 1 to 354)
  AUTHORS   Tommerup N and Vissing H.
  TITLE     Isolation and fine mapping of 16 novel human zinc finger-encoding
            cDNAs identify putative candidate genes for developmental and
            malignant disorders
  JOURNAL   Genomics 27 (2), 259-264 (1995)
   PUBMED   7557990
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK303240.1 and BC022291.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream start codon, compared to variant 1. The resulting
            isoform (2) has a shorter N-terminus, compared to isoform 1.
            Variants 2 and 4 encode the same protein (isoform 2).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK303240.1, DC406991.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     Protein         1..354
                     /product="zinc finger protein 140 isoform 2"
                     /calculated_mol_wt=41038
     Region          56..>349
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          60..80
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          88..108
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(93,95,97,99..100,103..104,107,121,123,127..128,
                     131..132,135,149,151,153,155..156,159..160,163)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          116..136
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          144..164
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          172..192
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          200..220
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          228..248
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          256..276
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(261,263,265,267..268,271..272,275,289,291,295..296,
                     299..300,303,317,319,321,323..324,327..328,331)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          284..304
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          312..332
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..354
                     /gene="ZNF140"
                     /gene_synonym="pHZ-39"
                     /coded_by="NM_001300776.2:360..1424"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS73550.1"
                     /db_xref="GeneID:7699"
                     /db_xref="HGNC:HGNC:12925"
                     /db_xref="MIM:604082"
ORIGIN      
        1 merilsqgpv yssfkggwkc kdhtemlqen qgcirkvtvs hqealaqhmn istverpygc
       61 hecgktfgrr fslvlhqrth tgekpyacke cgktfsqisn lvkhqmihtg kkpheckdcn
      121 ktfsylsfli ehqrthtgek pyectecgka fsrasnltrh qrihigkkqy icrkcgkafs
      181 sgselirhqi thtgekpyec iecgkafrrf shltrhqsih ttktpyecne crkafrchsf
      241 likhqrihag eklyecdecg kvftwhasli qhtkshtgek pyacaecdka fsrsfslilh
      301 qrthtgekpy vckvcnksfs wssnlakhqr thtldnpyey ensfnyhsfl tehq
//
LOCUS       NP_001004308             310 aa            linear   PRI 31-DEC-2022
DEFINITION  retrotransposon Gag-like protein 4 [Homo sapiens].
ACCESSION   NP_001004308 XP_293405
VERSION     NP_001004308.2
DBSOURCE    REFSEQ: accession NM_001004308.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 310)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 310)
  AUTHORS   Irie M, Koga A, Kaneko-Ishino T and Ishino F.
  TITLE     An LTR Retrotransposon-Derived Gene Displays Lineage-Specific
            Structural and Putative Species-Specific Functional Variations in
            Eutherians
  JOURNAL   Front Chem 4, 26 (2016)
   PUBMED   27446905
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 310)
  AUTHORS   Zemunik T, Boban M, Lauc G, Jankovic S, Rotim K, Vatavuk Z, Bencic
            G, Dogas Z, Boraska V, Torlak V, Susac J, Zobic I, Rudan D, Pulanic
            D, Modun D, Mudnic I, Gunjaca G, Budimir D, Hayward C, Vitart V,
            Wright AF, Campbell H and Rudan I.
  TITLE     Genome-wide association study of biochemical traits in Korcula
            Island, Croatia
  JOURNAL   Croat Med J 50 (1), 23-33 (2009)
   PUBMED   19260141
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   4  (residues 1 to 310)
  AUTHORS   Brandt J, Schrauth S, Veith AM, Froschauer A, Haneke T, Schultheis
            C, Gessler M, Leimeister C and Volff JN.
  TITLE     Transposable elements as a source of genetic innovation: expression
            and evolution of a family of retrotransposon-derived neogenes in
            mammals
  JOURNAL   Gene 345 (1), 101-111 (2005)
   PUBMED   15716091
REFERENCE   5  (residues 1 to 310)
  AUTHORS   Brandt J, Veith AM and Volff JN.
  TITLE     A family of neofunctionalized Ty3/gypsy retrotransposon genes in
            mammalian genomes
  JOURNAL   Cytogenet Genome Res 110 (1-4), 307-317 (2005)
   PUBMED   16093683
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL031388.1, AL929583.5 and BX088563.4.
            On Feb 8, 2008 this sequence version replaced NP_001004308.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK128465.1, DB169284.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..310
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     Protein         1..310
                     /product="retrotransposon Gag-like protein 4"
                     /note="zinc finger CCHC domain-containing protein 16; zinc
                     finger CCHC-type containing 16; Sushi-Ichi retrotransposon
                     homolog 11; mammalian retrotransposon-derived 4; mammalian
                     retrotransposon-derived protein 4; zinc finger, CCHC
                     domain containing 16"
                     /calculated_mol_wt=34554
     CDS             1..310
                     /gene="RTL4"
                     /gene_synonym="Mar4; Mart4; SIRH11; ZCCHC16"
                     /coded_by="NM_001004308.3:454..1386"
                     /db_xref="CCDS:CCDS35369.1"
                     /db_xref="GeneID:340595"
                     /db_xref="HGNC:HGNC:25214"
ORIGIN      
        1 mekctkssst mqvepsflqa enlilrlqmq hpttentakr gqvmpalatt vmpvpysleh
       61 ltqfhgdpan csefltqvtt yltalqisnp andaqiklff dylsqqlesc giisgpdkst
      121 llkqyenlil efqqsfgkpt kqeinplmna kfdkgdnssq qdpatfhlla qnlicnetnq
      181 sgqfekalad pnqdeesvtd mmdnlpdlit qciqldkkhs drpellqset qlpllasliq
      241 hqalfsptdp ppkkgpiqlr egqlpltpak rarqqetqlc lycsqsghft rdclakrsra
      301 pattnntahq
//
LOCUS       NP_001397715             902 aa            linear   PRI 01-JAN-2023
DEFINITION  la-related protein 1B isoform 6 [Homo sapiens].
ACCESSION   NP_001397715 XP_016863833
VERSION     NP_001397715.1
DBSOURCE    REFSEQ: accession NM_001410786.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 902)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   2  (residues 1 to 902)
  AUTHORS   Gao T, Nie Y and Guo J.
  TITLE     Hypermethylation of the gene LARP2 for noninvasive prenatal
            diagnosis of beta-thalassemia based on DNA methylation profile
  JOURNAL   Mol Biol Rep 39 (6), 6591-6598 (2012)
   PUBMED   22327645
  REMARK    GeneRIF: The promoter of the gene of La ribonucleoprotein domain
            family (LARP2) was significantly hypermethylated in
            beta-thalassemia, and the expression of LARP2 was significantly
            lower in beta-thalassemia.
REFERENCE   3  (residues 1 to 902)
  AUTHORS   Orvedahl A, Sumpter R Jr, Xiao G, Ng A, Zou Z, Tang Y, Narimatsu M,
            Gilpin C, Sun Q, Roth M, Forst CV, Wrana JL, Zhang YE, Luby-Phelps
            K, Xavier RJ, Xie Y and Levine B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   4  (residues 1 to 902)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   5  (residues 1 to 902)
  AUTHORS   Wolin SL and Cedervall T.
  TITLE     The La protein
  JOURNAL   Annu Rev Biochem 71, 375-403 (2002)
   PUBMED   12045101
  REMARK    GeneRIF: Review discusses the La motif, found in this protein.
            Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099340.3, AC108045.3,
            AC114735.4, AC124030.4 and AC096898.6.
            On Aug 16, 2022 this sequence version replaced XP_016863833.1.
            
            Summary: This gene encodes a protein containing domains found in
            the La related protein of Drosophila melanogaster. La
            motif-containing proteins are thought to be RNA-binding proteins,
            where the La motif and adjacent amino acids fold into an RNA
            recognition motif. The La motif is also found in proteins unrelated
            to the La protein. Alternative splicing has been observed at this
            locus and multiple variants, encoding distinct isoforms, are
            described. Additional splice variation has been identified but the
            full-length nature of these transcripts has not been determined.
            [provided by RefSeq, Jun 2013].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.120093.1,
                                           SRR1803611.129552.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..902
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q28.2"
     Protein         1..902
                     /product="la-related protein 1B isoform 6"
                     /note="La ribonucleoprotein domain family, member 2;
                     la-related protein 1B; La ribonucleoprotein domain family
                     member 1B; la-related protein 2"
                     /calculated_mol_wt=103977
     Region          1..169
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q659C4.2)"
     Site            60
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q659C4.2)"
     Region          <110..>280
                     /region_name="LHP1"
                     /note="La protein, small RNA-binding pol III transcript
                     stabilizing protein and related La-motif-containing
                     proteins involved in translation [Posttranslational
                     modification, protein turnover, chaperones / Translation,
                     ribosomal structure and biogenesis]; COG5193"
                     /db_xref="CDD:227520"
     Region          216..288
                     /region_name="LAM"
                     /note="LA motif RNA-binding domain; cl02755"
                     /db_xref="CDD:445906"
     Site            order(222,225..226,231,234..235,237,256..258)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:153396"
     Region          327..348
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q659C4.2)"
     Site            327
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q659C4.2)"
     Site            329
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q659C4.2)"
     Site            335
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q659C4.2)"
     Site            340
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q659C4.2)"
     Site            343
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q659C4.2)"
     Site            427
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q659C4.2)"
     Site            432
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q659C4.2)"
     Site            436
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q659C4.2)"
     Site            454
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q659C4.2)"
     Region          578..669
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q659C4.2)"
     Region          695..735
                     /region_name="DM15"
                     /note="Tandem repeat in fly CG14066 (La related protein),
                     human KIAA0731 and worm R144.7. Unknown function;
                     smart00684"
                     /db_xref="CDD:128927"
     Region          736..774
                     /region_name="DM15"
                     /note="Tandem repeat in fly CG14066 (La related protein),
                     human KIAA0731 and worm R144.7. Unknown function;
                     smart00684"
                     /db_xref="CDD:128927"
     Region          840..902
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q659C4.2)"
     CDS             1..902
                     /gene="LARP1B"
                     /gene_synonym="LARP2"
                     /coded_by="NM_001410786.1:515..3223"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS93633.1"
                     /db_xref="GeneID:55132"
                     /db_xref="HGNC:HGNC:24704"
ORIGIN      
        1 menwptpsel vntgfqsvls qgnkkpqnrk ekeekvekrs nsdskenret klngpgenvs
       61 edeaqssnqr krankhkwvp lhldvvrses qerpgsrnss rcqpeankpt hnnrrndtrs
      121 wkrdrekrdd qddvssvrse ggnirgsfrg rgrgrgrgrg rgrgnprlnf dysygyqehg
      181 ertdqpfqte lntsmmyyyd dgtgvqvypv eeallkeyik rqieyyfsve nlerdfflrg
      241 kmdeqgflpi sliagfqrvq alttnlnlil ealkdsteve ivdekmrkki epekwpipgp
      301 pprsvpptdf sqlidcpefv pgqafcshte sapnsprigs plspkknset silqamsrgl
      361 stslpdldse pwievkkrhq papvklresv svpegslnql csseepeqee ldflfdeeie
      421 qigrkntftd wsdndsdyei ddqdlnkili vtqtppyvkk hpggdrtgth msrakitsel
      481 akvindglyy yeqdlwmeed enkhtaikqe venfkklnli skeqfenltp elpfepnqev
      541 pvapsqsrqd ltdelaqklf dvseitsaam vhslptavpe sprihptrtp ktprtprlqd
      601 pnktprfypv vkepkaidvk sprkrktrhs tnpplechvg wvmdsrdrgp gtssvstsna
      661 spsegaplag sygctphsfp kfqhpshell kengftqqvy hkyrrrclse rkrlgigqsq
      721 emntlfrfws fflrdhfnkk myeefrqlaw edakenyryg leclfrfysy glekkfrrei
      781 fqdfqeetkk dyesgqlygl ekfwaylkys qsktqsidpk lqeylcsfkr ledfrvdppi
      841 sdefgrkrhs stsgeesnrh rlppnsstkp pnaakptsts elqvpinspr rnispessdn
      901 sh
//
LOCUS       NP_001335296             259 aa            linear   PRI 22-JAN-2023
DEFINITION  serpin B8 isoform d [Homo sapiens].
ACCESSION   NP_001335296 XP_016881279
VERSION     NP_001335296.1
DBSOURCE    REFSEQ: accession NM_001348367.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 259)
  AUTHORS   Ni L, Li P, Li M, Huang S and Dang N.
  TITLE     SERPINB8 and furin regulate ITGAX expression and affect the
            proliferation and invasion of melanoma cells
  JOURNAL   Exp Dermatol 32 (1), 24-29 (2023)
   PUBMED   36134483
  REMARK    GeneRIF: SERPINB8 and furin regulate ITGAX expression and affect
            the proliferation and invasion of melanoma cells.
REFERENCE   2  (residues 1 to 259)
  AUTHORS   Glavey SV, Naba A, Manier S, Clauser K, Tahri S, Park J, Reagan MR,
            Moschetta M, Mishima Y, Gambella M, Rocci A, Sacco A, O'Dwyer ME,
            Asara JM, Palumbo A, Roccaro AM, Hynes RO and Ghobrial IM.
  TITLE     Proteomic characterization of human multiple myeloma bone marrow
            extracellular matrix
  JOURNAL   Leukemia 31 (11), 2426-2434 (2017)
   PUBMED   28344315
REFERENCE   3  (residues 1 to 259)
  AUTHORS   Pigors M, Sarig O, Heinz L, Plagnol V, Fischer J, Mohamad J,
            Malchin N, Rajpopat S, Kharfi M, Lestringant GG, Sprecher E,
            Kelsell DP and Blaydon DC.
  TITLE     Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative
            Ichthyosis with Impaired Mechanical Stability of Intercellular
            Adhesions
  JOURNAL   Am J Hum Genet 99 (2), 430-436 (2016)
   PUBMED   27476651
  REMARK    GeneRIF: report of mutations in SERPINB8 that are associated with
            exfoliative ichthyosis and provide evidence that SERPINB8
            contributes to the mechanical stability of intercellular adhesions
            in the epidermis
REFERENCE   4  (residues 1 to 259)
  AUTHORS   Heit C, Jackson BC, McAndrews M, Wright MW, Thompson DC, Silverman
            GA, Nebert DW and Vasiliou V.
  TITLE     Update of the human and mouse SERPIN gene superfamily
  JOURNAL   Hum Genomics 7 (1), 22 (2013)
   PUBMED   24172014
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 259)
  AUTHORS   Wilk JB, Shrine NR, Loehr LR, Zhao JH, Manichaikul A, Lopez LM,
            Smith AV, Heckbert SR, Smolonska J, Tang W, Loth DW, Curjuric I,
            Hui J, Cho MH, Latourelle JC, Henry AP, Aldrich M, Bakke P, Beaty
            TH, Bentley AR, Borecki IB, Brusselle GG, Burkart KM, Chen TH,
            Couper D, Crapo JD, Davies G, Dupuis J, Franceschini N, Gulsvik A,
            Hancock DB, Harris TB, Hofman A, Imboden M, James AL, Khaw KT,
            Lahousse L, Launer LJ, Litonjua A, Liu Y, Lohman KK, Lomas DA,
            Lumley T, Marciante KD, McArdle WL, Meibohm B, Morrison AC, Musk
            AW, Myers RH, North KE, Postma DS, Psaty BM, Rich SS, Rivadeneira
            F, Rochat T, Rotter JI, Soler Artigas M, Starr JM, Uitterlinden AG,
            Wareham NJ, Wijmenga C, Zanen P, Province MA, Silverman EK, Deary
            IJ, Palmer LJ, Cassano PA, Gudnason V, Barr RG, Loos RJ, Strachan
            DP, London SJ, Boezen HM, Probst-Hensch N, Gharib SA, Hall IP,
            O'Connor GT, Tobin MD and Stricker BH.
  TITLE     Genome-wide association studies identify CHRNA5/3 and HTR4 in the
            development of airflow obstruction
  JOURNAL   Am J Respir Crit Care Med 186 (7), 622-632 (2012)
   PUBMED   22837378
REFERENCE   6  (residues 1 to 259)
  AUTHORS   Dahlen JR, Foster DC and Kisiel W.
  TITLE     Expression, purification, and inhibitory properties of human
            proteinase inhibitor
  JOURNAL   Biochemistry 36 (48), 14874-14882 (1997)
   PUBMED   9402754
REFERENCE   7  (residues 1 to 259)
  AUTHORS   Bartuski AJ, Kamachi Y, Schick C, Overhauser J and Silverman GA.
  TITLE     Cytoplasmic antiproteinase 2 (PI8) and bomapin (PI10) map to the
            serpin cluster at 18q21.3
  JOURNAL   Genomics 43 (3), 321-328 (1997)
   PUBMED   9268635
REFERENCE   8  (residues 1 to 259)
  AUTHORS   Hubberstey A, Yu G, Loewith R, Lakusta C and Young D.
  TITLE     Mammalian CAP interacts with CAP, CAP2, and actin
  JOURNAL   J Cell Biochem 61 (3), 459-466 (1996)
   PUBMED   8761950
REFERENCE   9  (residues 1 to 259)
  AUTHORS   Sprecher CA, Morgenstern KA, Mathewes S, Dahlen JR, Schrader SK,
            Foster DC and Kisiel W.
  TITLE     Molecular cloning, expression, and partial characterization of two
            novel members of the ovalbumin family of serine proteinase
            inhibitors
  JOURNAL   J Biol Chem 270 (50), 29854-29861 (1995)
   PUBMED   8530382
REFERENCE   10 (residues 1 to 259)
  AUTHORS   Huber R and Carrell RW.
  TITLE     Implications of the three-dimensional structure of alpha
            1-antitrypsin for structure and function of serpins
  JOURNAL   Biochemistry 28 (23), 8951-8966 (1989)
   PUBMED   2690952
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009802.13.
            On Jan 28, 2017 this sequence version replaced XP_016881279.1.
            
            Summary: The protein encoded by this gene is a member of the
            ov-serpin family of serine protease inhibitors. The encoded protein
            is produced by platelets and can bind to and inhibit the function
            of furin, a serine protease involved in platelet functions. In
            addition, this protein has been found to enhance the mechanical
            stability of cell-cell adhesion in the skin, and defects in this
            gene have been associated with an autosomal-recessive form of
            exfoliative ichthyosis. [provided by RefSeq, Jan 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.225570.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142670, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..259
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q22.1"
     Protein         1..259
                     /product="serpin B8 isoform d"
                     /note="protease inhibitor 8 (ovalbumin type); serine (or
                     cysteine) proteinase inhibitor, clade B (ovalbumin),
                     member 8; cytoplasmic antiproteinase 2; serpin B8;
                     peptidase inhibitor 8; serpin peptidase inhibitor, clade B
                     (ovalbumin), member 8"
                     /calculated_mol_wt=29384
     Region          1..>240
                     /region_name="serpin"
                     /note="SERine Proteinase INhibitors (serpin) family;
                     cl38926"
                     /db_xref="CDD:453891"
     CDS             1..259
                     /gene="SERPINB8"
                     /gene_synonym="C18orf53; CAP2; PI-8; PI8; PSS5"
                     /coded_by="NM_001348367.2:101..880"
                     /note="isoform d is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS86678.1"
                     /db_xref="GeneID:5271"
                     /db_xref="HGNC:HGNC:8952"
                     /db_xref="MIM:601697"
ORIGIN      
        1 mddlceangt faislfkilg eednsrnvff spmsissala mvfmgakgst aaqmsqalcl
       61 ykdgdihrgf qsllsevnrt gtqyllrtan rlfgektcdf lpdfkeycqk fyqaeleels
      121 faedteecrk hindwvaekt egkisevlda gtvdpltklv lvnaiyfkgk wneqfdrkyt
      181 rgmlfktnee kktvqmmfke akfkmgyade vhtqvlelpy veeelsmvil lpddntdlav
      241 dtlrstsffc dilaniist
//
LOCUS       NP_001403891             306 aa            linear   PRI 23-FEB-2023
DEFINITION  carbonic anhydrase-related protein isoform d [Homo sapiens].
ACCESSION   NP_001403891
VERSION     NP_001403891.1
DBSOURCE    REFSEQ: accession NM_001416962.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 306)
  AUTHORS   Lin GY, Ma CY, Kuo LC, Hsieh BY, Wang H, Liu CS and Hsieh M.
  TITLE     Altered glucose metabolism and its association with carbonic
            anhydrase 8 in Machado-Joseph Disease
  JOURNAL   Metab Brain Dis 37 (6), 2103-2120 (2022)
   PUBMED   35488942
  REMARK    GeneRIF: Altered glucose metabolism and its association with
            carbonic anhydrase 8 in Machado-Joseph Disease.
REFERENCE   2  (residues 1 to 306)
  AUTHORS   Hiepp L, Mayr D, Gartner K, Schmoeckel E, Klauschen F, Burges A,
            Mahner S, Zeidler R and Czogalla B.
  TITLE     Carbonic anhydrase XII as biomarker and therapeutic target in
            ovarian carcinomas
  JOURNAL   PLoS One 17 (7), e0271630 (2022)
   PUBMED   35901081
  REMARK    GeneRIF: Carbonic anhydrase XII as biomarker and therapeutic target
            in ovarian carcinomas.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 306)
  AUTHORS   Upadhyay U, Zhuang GZ, Diatchenko L, Parisien M, Kang Y,
            Sarantopoulos KD, Martin ER, Smith SB, Maixner W and Levitt RC.
  TITLE     Reversion mutation of cDNA CA8-204 minigene construct produces a
            truncated functional peptide that regulates calcium release in
            vitro and produces profound analgesia in vivo
  JOURNAL   Mamm Genome 31 (9-12), 287-294 (2020)
   PUBMED   33247772
  REMARK    GeneRIF: Reversion mutation of cDNA CA8-204 minigene construct
            produces a truncated functional peptide that regulates calcium
            release in vitro and produces profound analgesia in vivo.
REFERENCE   4  (residues 1 to 306)
  AUTHORS   Wang TK, Lin YM, Lo CM, Tang CH, Teng CL, Chao WT, Wu MH, Liu CS
            and Hsieh M.
  TITLE     Oncogenic roles of carbonic anhydrase 8 in human osteosarcoma cells
  JOURNAL   Tumour Biol 37 (6), 7989-8005 (2016)
   PUBMED   26711783
  REMARK    GeneRIF: we observed increased expression of CA8 in more aggressive
            types of human osteosarcoma (OS) cells and found that CA8
            expression is correlated with disease stages, such that more
            intense expression occurs in the disease late stage
REFERENCE   5  (residues 1 to 306)
  AUTHORS   Turkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C,
            Kuss A, Humphrey N, Mundlos S and Robinson PN.
  TITLE     CA8 mutations cause a novel syndrome characterized by ataxia and
            mild mental retardation with predisposition to quadrupedal gait
  JOURNAL   PLoS Genet 5 (5), e1000487 (2009)
   PUBMED   19461874
  REMARK    GeneRIF: Consanguineous Iraqi family in which affected siblings had
            mild mental retardation and congenital ataxia characterized by
            quadrupedal gait. The mutation S100P is associated with
            proteasome-mediated degradation, and presumably represents a null
            mutation.
REFERENCE   6  (residues 1 to 306)
  AUTHORS   Mori S, Kou I, Sato H, Emi M, Ito H, Hosoi T and Ikegawa S.
  TITLE     Nucleotide variations in genes encoding carbonic anhydrase 8 and 10
            associated with femoral bone mineral density in Japanese female
            with osteoporosis
  JOURNAL   J Bone Miner Metab 27 (2), 213-216 (2009)
   PUBMED   19172221
  REMARK    GeneRIF: The results suggest that the variations of CA8 and CA10
            loci may be important determinants of osteoporosis in Japanese
            women.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 306)
  AUTHORS   Bergenhem NC, Hallberg M and Wisen S.
  TITLE     Molecular characterization of the human carbonic anhydrase-related
            protein (HCA-RP VIII)
  JOURNAL   Biochim Biophys Acta 1384 (2), 294-298 (1998)
   PUBMED   9659390
REFERENCE   8  (residues 1 to 306)
  AUTHORS   Bergenhem NC, Sait SS, Eddy RL, Shows TB and Tashian RE.
  TITLE     Assignment of the gene for human carbonic anhydrase VIII(CA8) to
            chromosome 8q11-->q12
  JOURNAL   Cytogenet Cell Genet 71 (3), 299-300 (1995)
   PUBMED   7587398
REFERENCE   9  (residues 1 to 306)
  AUTHORS   Kelly C, Nogradi A, Walker R, Caddy K, Peters J and Carter N.
  TITLE     Lurching, reeling, waddling and staggering in mice--is carbonic
            anhydrase (CA) VIII a candidate gene?
  JOURNAL   Biochem Soc Trans 22 (3), 359S (1994)
   PUBMED   7821612
REFERENCE   10 (residues 1 to 306)
  AUTHORS   Skaggs LA, Bergenhem NC, Venta PJ and Tashian RE.
  TITLE     The deduced amino acid sequence of human carbonic anhydrase-related
            protein (CARP) is 98% identical to the mouse homologue
  JOURNAL   Gene 126 (2), 291-292 (1993)
   PUBMED   8482548
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CP068270.2.
            
            Summary: The protein encoded by this gene was initially named
            CA-related protein because of sequence similarity to other known
            carbonic anhydrase genes. However, the gene product lacks carbonic
            anhydrase activity (i.e., the reversible hydration of carbon
            dioxide). The gene product continues to carry a carbonic anhydrase
            designation based on clear sequence identity to other members of
            the carbonic anhydrase gene family. The absence of CA8 gene
            transcription in the cerebellum of the lurcher mutant in mice with
            a neurologic defect suggests an important role for this acatalytic
            form. Mutations in this gene are associated with cerebellar ataxia,
            mental retardation, and dysequilibrium syndrome 3 (CMARQ3).
            Polymorphisms in this gene are associated with osteoporosis, and
            overexpression of this gene in osteosarcoma cells suggests an
            oncogenic role. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Mar 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.403576.1,
                                           SRR1803615.154542.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..306
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     Protein         1..306
                     /product="carbonic anhydrase-related protein isoform d"
                     /EC_number="4.2.1.1"
                     /note="CA-related protein; carbonic anhydrase-related
                     protein; carbonic anhydrase VIII; carbonic anhydrase-like
                     sequence; carbonate dehydratase"
                     /calculated_mol_wt=34656
     Region          35..305
                     /region_name="alpha_CARP_VIII"
                     /note="Carbonic anhydrase alpha related protein, group
                     VIII. Carbonic anhydrase related proteins (CARPs) are
                     sequence similar to carbonic anhydrases. Carbonic
                     anhydrases are zinc-containing enzymes that catalyze the
                     reversible hydration of carbon dioxide in a...; cd03120"
                     /db_xref="CDD:239394"
     CDS             1..306
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP"
                     /coded_by="NM_001416962.1:254..1174"
                     /note="isoform d is encoded by transcript variant 7"
                     /db_xref="GeneID:767"
                     /db_xref="HGNC:HGNC:1382"
                     /db_xref="MIM:114815"
ORIGIN      
        1 madlsfiedt vafpekeede eeeeegvewg yeegvewglv fpdangeyqs pinlnsrear
       61 ydpslldvrl spnyvvcrdc evtndghtiq vilksksvls ggplpqghef elyevrfhwg
      121 renqrgseht vnfkafpmel hlihwnstlf gsideavgkp hgiaiialfv qigkehvglk
      181 avteilqdiq ykgksktipc fnpntllpdp llrdywvyeg sltippcseg vtwilfrypl
      241 tisqlqvwrm esgrkvgmpv isieefrrlr thvkgaelve gcdgilgdnf rptqplsdrv
      301 iraafq
//
LOCUS       NP_001341639             461 aa            linear   PRI 16-MAR-2023
DEFINITION  thyroid hormone receptor beta isoform a [Homo sapiens].
ACCESSION   NP_001341639 XP_005265478
VERSION     NP_001341639.1
DBSOURCE    REFSEQ: accession NM_001354710.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 461)
  AUTHORS   Lai HP and Chen MH.
  TITLE     Atrial Fibrillation with Heart Failure in a Case with Resistance to
            Thyroid Hormone Due to a Rare Thyroid Hormone Receptor beta Gene
            Mutation
  JOURNAL   Int J Mol Sci 23 (23), 15241 (2022)
   PUBMED   36499571
  REMARK    GeneRIF: Atrial Fibrillation with Heart Failure in a Case with
            Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone
            Receptor beta Gene Mutation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 461)
  AUTHORS   Cui B, Xiao X, Wang J, Wang H, Wu C, Yan Y, Zheng J, Wang J, Zong
            Y, Zhang Y, Hui R, Gerdes AM and Wang Y.
  TITLE     Low THRB (thyroid hormone receptor beta) Promoter Methylation
            Levels in Peripheral Blood Leukocytes Induced By Systematic
            Inflammation Are Involved in Low Thyroid Hormone Function in
            Metabolic Syndrome
  JOURNAL   Hypertension 78 (4), 1005-1015 (2021)
   PUBMED   34397273
  REMARK    GeneRIF: Low THRB (thyroid hormone receptor beta) Promoter
            Methylation Levels in Peripheral Blood Leukocytes Induced By
            Systematic Inflammation Are Involved in Low Thyroid Hormone
            Function in Metabolic Syndrome.
REFERENCE   3  (residues 1 to 461)
  AUTHORS   Shi YB.
  TITLE     Life Without Thyroid Hormone Receptor
  JOURNAL   Endocrinology 162 (4) (2021)
   PUBMED   33558878
  REMARK    GeneRIF: Life Without Thyroid Hormone Receptor.
            Review article
REFERENCE   4  (residues 1 to 461)
  AUTHORS   Kassotis CD, Hoffman K, Phillips AL, Zhang S, Cooper EM, Webster TF
            and Stapleton HM.
  TITLE     Characterization of adipogenic, PPARgamma, and TRbeta activities in
            house dust extracts and their associations with organic
            contaminants
  JOURNAL   Sci Total Environ 758, 143707 (2021)
   PUBMED   33223163
  REMARK    GeneRIF: Characterization of adipogenic, PPARgamma, and TRbeta
            activities in house dust extracts and their associations with
            organic contaminants.
REFERENCE   5  (residues 1 to 461)
  AUTHORS   Pajek M, Avbelj Stefanija M, Trebusak Podkrajsek K, Suput Omladic
            J, Zerjav Tansek M, Battelino T and Groselj U.
  TITLE     Hypercholesterolemia in Two Siblings with Resistance to Thyroid
            Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor
            (THRB) Gene
  JOURNAL   Medicina (Kaunas) 56 (12), 699 (2020)
   PUBMED   33333891
  REMARK    GeneRIF: Hypercholesterolemia in Two Siblings with Resistance to
            Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone
            Receptor (THRB) Gene.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 461)
  AUTHORS   Falcone M, Miyamoto T, Fierro-Renoy F, Macchia E and DeGroot LJ.
  TITLE     Antipeptide polyclonal antibodies specifically recognize each human
            thyroid hormone receptor isoform
  JOURNAL   Endocrinology 131 (5), 2419-2429 (1992)
   PUBMED   1425440
REFERENCE   7  (residues 1 to 461)
  AUTHORS   Behr M and Loos U.
  TITLE     A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA
            beta thyroid hormone receptor gene in a family with generalized
            thyroid hormone resistance
  JOURNAL   Mol Endocrinol 6 (7), 1119-1126 (1992)
   PUBMED   1324420
REFERENCE   8  (residues 1 to 461)
  AUTHORS   Cugini CD Jr, Leidy JW Jr, Chertow BS, Berard J, Bradley WE, Menke
            JB, Hao EH and Usala SJ.
  TITLE     An arginine to histidine mutation in codon 315 of the c-erbA beta
            thyroid hormone receptor in a kindred with generalized resistance
            to thyroid hormones results in a receptor with significant
            3,5,3'-triiodothyronine binding activity
  JOURNAL   J Clin Endocrinol Metab 74 (5), 1164-1170 (1992)
   PUBMED   1314846
REFERENCE   9  (residues 1 to 461)
  AUTHORS   Schmidt ED, Schmidt ED, van der Gaag R, Ganpat R, Broersma L, de
            Boer PA, Moorman AF, Lamers WH, Wiersinga WM and Koornneef L.
  TITLE     Distribution of the nuclear thyroid-hormone receptor in extraocular
            and skeletal muscles
  JOURNAL   J Endocrinol 133 (1), 67-74 (1992)
   PUBMED   1517709
REFERENCE   10 (residues 1 to 461)
  AUTHORS   Adams M, Nagaya T, Tone Y, Jameson JL and Chatterjee VK.
  TITLE     Functional properties of a novel mutant thyroid hormone receptor in
            a family with generalized thyroid hormone resistance syndrome
  JOURNAL   Clin Endocrinol (Oxf) 36 (3), 281-289 (1992)
   PUBMED   1563081
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012087.10, AC099054.2,
            AC093927.3 and AC098971.2.
            On Aug 29, 2017 this sequence version replaced XP_005265478.1.
            
            Summary: The protein encoded by this gene is a nuclear hormone
            receptor for triiodothyronine. It is one of the several receptors
            for thyroid hormone, and has been shown to mediate the biological
            activities of thyroid hormone. Knockout studies in mice suggest
            that the different receptors, while having certain extent of
            redundancy, may mediate different functions of thyroid hormone.
            Mutations in this gene are known to be a cause of generalized
            thyroid hormone resistance (GTHR), a syndrome characterized by
            goiter and high levels of circulating thyroid hormone (T3-T4), with
            normal or slightly elevated thyroid stimulating hormone (TSH).
            Several alternatively spliced transcript variants encoding the same
            protein have been observed for this gene. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (7) differs in the 5' UTR compared
            to variant 1. Variants 1-10 all encode the same isoform (a).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.252262.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..461
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.2"
     Protein         1..461
                     /product="thyroid hormone receptor beta isoform a"
                     /note="oncogene ERBA2; nuclear receptor subfamily 1 group
                     A member 2; thyroid hormone receptor, beta (erythroblastic
                     leukemia viral (v-erb-a) oncogene homolog 2, avian)"
                     /calculated_mol_wt=52657
     Region          1..106
                     /region_name="Modulating"
                     /note="propagated from UniProtKB/Swiss-Prot (P10828.2)"
     Region          106..192
                     /region_name="NR_DBD_TR"
                     /note="DNA-binding domain of thyroid hormone receptors
                     (TRs) is composed of two C4-type zinc fingers; cd06961"
                     /db_xref="CDD:143519"
     Site            order(107,110,124,127,145,151,161,164)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143519"
     Site            order(117..119,125..126,128,130,132..133,136,158..159,162,
                     165,178..180,185,188..189,191..192)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143519"
     Site            order(117,120,175,177..178)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:143519"
     Region          216..458
                     /region_name="NR_LBD_TR"
                     /note="The ligand binding domain of thyroid hormone
                     receptor, a members of a superfamily of nuclear receptors;
                     cd06935"
                     /db_xref="CDD:132733"
     Region          244..461
                     /region_name="Interaction with NR2F6.
                     /evidence=ECO:0000269|PubMed:10713182"
                     /note="propagated from UniProtKB/Swiss-Prot (P10828.2)"
     Site            order(269,272..273,275..276,279,282,310,313,317,329..331,
                     341,344,346,353,435,442,455)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:132733"
     Site            order(281,284,288,298,302,305,453..454,457)
                     /site_type="other"
                     /note="coactivator recognition site [polypeptide binding]"
                     /db_xref="CDD:132733"
     Site            order(348,393,423,426..427,430,433..434,436..437)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:132733"
     CDS             1..461
                     /gene="THRB"
                     /gene_synonym="C-ERBA-2; C-ERBA-BETA; ERBA2; GRTH; NR1A2;
                     PRTH; THR1; THRB1; THRB2; THRbeta; THRbeta1; Thrbeta2;
                     TRb; TRbeta; TRbeta1"
                     /coded_by="NM_001354710.2:317..1702"
                     /note="isoform a is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS2641.1"
                     /db_xref="GeneID:7068"
                     /db_xref="HGNC:HGNC:11799"
                     /db_xref="MIM:190160"
ORIGIN      
        1 mtpnsmteng ltawdkpkhc pdrehdwklv gmseaclhrk shserrstlk neqssphliq
       61 ttwtssifhl dhddvndqsv ssaqtfqtee kkckgyipsy ldkdelcvvc gdkatgyhyr
      121 citcegckgf frrtiqknlh psysckyegk cvidkvtrnq cqecrfkkci yvgmatdlvl
      181 ddskrlakrk lieenrekrr reelqksigh kpeptdeewe liktvteahv atnaqgshwk
      241 qkrkflpedi gqapivnape ggkvdleafs hftkiitpai trvvdfakkl pmfcelpced
      301 qiillkgccm eimslraavr ydpesetltl ngemavtrgq lkngglgvvs daifdlgmsl
      361 ssfnlddtev allqavllms sdrpglacve riekyqdsfl lafehyinyr khhvthfwpk
      421 llmkvtdlrm igachasrfl hmkvecptel fpplflevfe d
//
LOCUS       NP_001338425             461 aa            linear   PRI 17-MAR-2023
DEFINITION  ribitol-5-phosphate transferase FKTN isoform a [Homo sapiens].
ACCESSION   NP_001338425 XP_016869955
VERSION     NP_001338425.1
DBSOURCE    REFSEQ: accession NM_001351496.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 461)
  AUTHORS   Li M, Fu H, Li J, Meng D, Zhang Q and Fei D.
  TITLE     Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by
            prenatal whole-exome sequencing in three fetuses with congenital
            hydrocephalus
  JOURNAL   J Obstet Gynaecol Res 48 (10), 2624-2629 (2022)
   PUBMED   35843586
  REMARK    GeneRIF: Compound variants of FKTN, POMGNT1, and LAMB1 gene
            identified by prenatal whole-exome sequencing in three fetuses with
            congenital hydrocephalus.
REFERENCE   2  (residues 1 to 461)
  AUTHORS   Okamura Y, Yamamoto T, Tsukui R, Kato Y and Shibata N.
  TITLE     Fukutin Protein Participates in Cell Proliferation by Enhancing
            Cyclin D1 Expression through Binding to the Transcription Factor
            Activator Protein-1: An In Vitro Study
  JOURNAL   Int J Mol Sci 22 (22), 12153 (2021)
   PUBMED   34830034
  REMARK    GeneRIF: Fukutin Protein Participates in Cell Proliferation by
            Enhancing Cyclin D1 Expression through Binding to the Transcription
            Factor Activator Protein-1: An In Vitro Study.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 461)
  AUTHORS   Nishihara R, Kobayashi K, Imae R, Tsumoto H, Manya H, Mizuno M,
            Kanagawa M, Endo T and Toda T.
  TITLE     Cell endogenous activities of fukutin and FKRP coexist with the
            ribitol xylosyltransferase, TMEM5
  JOURNAL   Biochem Biophys Res Commun 497 (4), 1025-1030 (2018)
   PUBMED   29477842
  REMARK    GeneRIF: Fukutin, FKRP, and TMEM5 form a complex while maintaining
            each of their enzyme activities.  Data showed that endogenous
            fukutin and FKRP enzyme activities coexist with TMEM5 enzyme
            activity, and suggest the possibility that formation of this enzyme
            complex may contribute to specific and prompt biosynthesis of
            glycans that are required for dystroglycan function.
REFERENCE   4  (residues 1 to 461)
  AUTHORS   Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E,
            Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K,
            Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y,
            Tokunaga K and Toda T.
  TITLE     An ancient retrotransposal insertion causes Fukuyama-type
            congenital muscular dystrophy
  JOURNAL   Nature 394 (6691), 388-392 (1998)
   PUBMED   9690476
REFERENCE   5  (residues 1 to 461)
  AUTHORS   Miyake M, Nakahori Y, Matsushita I, Kobayashi K, Mizuno K, Hirai M,
            Kanazawa I, Nakagome Y, Tokunaga K and Toda T.
  TITLE     YAC and cosmid contigs encompassing the Fukuyama-type congenital
            muscular dystrophy (FCMD) candidate region on 9q31
  JOURNAL   Genomics 40 (2), 284-293 (1997)
   PUBMED   9119396
REFERENCE   6  (residues 1 to 461)
  AUTHORS   Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai
            M, Tomita I, Origuchi Y, Suzuki M [corrected to Sakai M] et al.
  TITLE     Localization of a gene for Fukuyama type congenital muscular
            dystrophy to chromosome 9q31-33
  JOURNAL   Nat Genet 5 (3), 283-286 (1993)
   PUBMED   8275093
  REMARK    Erratum:[Nat Genet 1994 May;7(1):113]
REFERENCE   7  (residues 1 to 461)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   8  (residues 1 to 461)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
REFERENCE   9  (residues 1 to 461)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301468
REFERENCE   10 (residues 1 to 461)
  AUTHORS   Saito,K.
  TITLE     Fukuyama Congenital Muscular Dystrophy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301385
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL601876.1, BX508406.1,
            DA917113.1, BC117699.1, AL158070.11 and AW014603.1.
            On May 12, 2017 this sequence version replaced XP_016869955.1.
            
            Summary: The protein encoded by this gene is a putative
            transmembrane protein that is localized to the cis-Golgi
            compartment, where it may be involved in the glycosylation of
            alpha-dystroglycan in skeletal muscle. The encoded protein is
            thought to be a glycosyltransferase and could play a role in brain
            development. Defects in this gene are a cause of Fukuyama-type
            congenital muscular dystrophy (FCMD), Walker-Warburg syndrome
            (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated
            cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Nov
            2010].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 4 encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.157468.1,
                                           SRR1660803.250855.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..461
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.2"
     Protein         1..461
                     /product="ribitol-5-phosphate transferase FKTN isoform a"
                     /note="Fukuyama type congenital muscular dystrophy
                     protein; patient fukutin; ribitol-5-phosphate transferase;
                     ribitol-5-phosphate transferase FKTN"
                     /calculated_mol_wt=53593
     Region          1..278
                     /region_name="FKTN_N"
                     /note="Fukutin N-terminal; pfam19737"
                     /db_xref="CDD:437569"
     Region          6..27
                     /region_name="Required and sufficient for interaction with
                     POMGNT1. /evidence=ECO:0000269|PubMed:17034757"
                     /note="propagated from UniProtKB/Swiss-Prot (O75072.2)"
     Site            8..28
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75072.2)"
     Site            92
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O75072.2)"
     Region          289..>327
                     /region_name="LicD"
                     /note="LicD family; cl01378"
                     /db_xref="CDD:445379"
     CDS             1..461
                     /gene="FKTN"
                     /gene_synonym="CMD1X; FCMD; LGMD2M; LGMDR13; MDDGA4;
                     MDDGB4; MDDGC4"
                     /coded_by="NM_001351496.2:351..1736"
                     /note="isoform a is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS6766.1"
                     /db_xref="GeneID:2218"
                     /db_xref="HGNC:HGNC:3622"
                     /db_xref="MIM:607440"
ORIGIN      
        1 msrinknvvl alltltssaf llfqlyyykh ylstkngagl skskgsrigf dstqwravkk
       61 fimltsnqnv pvflidplil elinknfeqv kntshgstsq ckffcvprdf tafalqyhlw
      121 kneegwfria enmgfqclki eskdprldgi dslsgteipl hyicklatha ihlvvfhers
      181 gnylwhghlr lkehidrkfv pfrklqfgry pgafdrpelq qvtvdglevl ipkdpmhfve
      241 evphsrfiec rykearaffq qylddntvea vafrksakel lqlaaktlnk lgvpfwlssg
      301 tclgwyrqcn iipyskdvdl gifiqdyksd iilafqdagl plkhkfgkve dslelsfqgk
      361 ddvkldvfff yeetdhmwng gtqaktgkkf kylfpkftlc wtefvdmkvh vpcetleyie
      421 anygktwkip vktwdwkrsp pnvqpngiwp isewdeviql y
//
LOCUS       XP_047305563             172 aa            linear   PRI 20-MAR-2023
DEFINITION  aflatoxin B1 aldehyde reductase member 3 isoform X2 [Homo sapiens].
ACCESSION   XP_047305563
VERSION     XP_047305563.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449607.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..172
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..172
                     /product="aflatoxin B1 aldehyde reductase member 3 isoform
                     X2"
                     /calculated_mol_wt=18926
     Region          10..>170
                     /region_name="AKR_SF"
                     /note="Aldo-keto reductase (AKR) superfamily; cl00470"
                     /db_xref="CDD:444925"
     Site            order(44,49,77,113)
                     /site_type="active"
                     /note="catalytic tetrad [active]"
                     /db_xref="CDD:381296"
     CDS             1..172
                     /gene="AKR7A3"
                     /gene_synonym="AFAR2"
                     /coded_by="XM_047449607.1:62..580"
                     /db_xref="GeneID:22977"
                     /db_xref="HGNC:HGNC:390"
                     /db_xref="MIM:608477"
ORIGIN      
        1 msrqlsrarp atvlgamemg rrmdaptsaa vtraflergh teidtafvys egqsetilgg
       61 lglrlggsdc rvkidtkaip lfgnslkpds lrfqletslk rlqcprvdlf ylhmpdhstp
      121 veetlrachq lhqegkfvel glsnyaawev aeictlcksn gwilptvyqg ac
//
LOCUS       XP_047272112            1186 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor L2 isoform X6 [Homo sapiens].
ACCESSION   XP_047272112
VERSION     XP_047272112.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416156.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 41% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1186
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1186
                     /product="adhesion G protein-coupled receptor L2 isoform
                     X6"
                     /calculated_mol_wt=133390
     Region          36..132
                     /region_name="Gal_Rha_Lectin_LPHN2"
                     /note="galactose/rhamnose binding lectin domain found in
                     latrophilin-2 and similar proteins; cd22845"
                     /db_xref="CDD:438702"
     Site            order(37..40,42,45,52..54,68,70..73,122,124)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:438702"
     Site            order(43,64,78,114,116..121)
                     /site_type="other"
                     /note="putative rhamnose binding site [chemical binding]"
                     /db_xref="CDD:438702"
     Site            order(95,98..99)
                     /site_type="other"
                     /note="putative NAG binding site [chemical binding]"
                     /db_xref="CDD:438702"
     Region          138..394
                     /region_name="OLF"
                     /note="Olfactomedin-like domain; cl02549"
                     /db_xref="CDD:445825"
     Region          465..529
                     /region_name="HormR"
                     /note="Domain present in hormone receptors; smart00008"
                     /db_xref="CDD:214468"
     Region          538..760
                     /region_name="GAIN"
                     /note="GPCR-Autoproteolysis INducing (GAIN) domain;
                     pfam16489"
                     /db_xref="CDD:435371"
     Region          784..836
                     /region_name="GPS"
                     /note="G-protein-coupled receptor proteolytic site domain;
                     smart00303"
                     /db_xref="CDD:197639"
     Region          844..1101
                     /region_name="7tm_GPCRs"
                     /note="seven-transmembrane G protein-coupled receptor
                     superfamily; cl28897"
                     /db_xref="CDD:452889"
     Region          847..871
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:410628"
     Region          880..901
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:410628"
     Region          911..933
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:410628"
     Region          952..968
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:410628"
     Region          987..1010
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:410628"
     Region          1037..1059
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:410628"
     Region          1063..1088
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:410628"
     Region          1100..>1175
                     /region_name="Latrophilin"
                     /note="Latrophilin Cytoplasmic C-terminal region;
                     pfam02354"
                     /db_xref="CDD:426735"
     CDS             1..1186
                     /gene="ADGRL2"
                     /gene_synonym="CIRL2; CL2; LEC1; LPHH1; LPHN2"
                     /coded_by="XM_047416156.1:261..3821"
                     /db_xref="GeneID:23266"
                     /db_xref="HGNC:HGNC:18582"
                     /db_xref="MIM:607018"
ORIGIN      
        1 mvssgcrmrs lwfiivisfl pntegfsraa lpfglvrrel scegysidlr cpgsdvimie
       61 sanygrtddk icdadpfqme ntdcylpdaf kimtqrcnnr tqcivvtgsd vfpdpcpgty
      121 kylevqyecv pyifvcpgtl kaivdspciy eaeqkagawc kdplqaadki yfmpwtpyrt
      181 dtlieyasle dfqnsrqttt yklpnrvdgt gfvvydgavf fnkertrniv kfdlrtriks
      241 geaiinyany hdtspyrwgg ktdidlavde nglwviyate qnngmivisq lnpytlrfea
      301 twetvydkra asnafmicgv lyvvrsvyqd nesetgknsi dyiyntrlnr geyvdvpfpn
      361 qyqyiaavdy nprdnqlyvw nnnfilrysl efgppdpaqv pttavtitss aelfktiist
      421 tsttsqkgpm sttvagsqeg skgtkpppav sttkippitn ifplperfce aldskgikwp
      481 qtqrgmmver pcpkgtrgta sylcmistgt wnpkgpdlsn ctshwvnqla qkirsgenaa
      541 slanelakht kgpvfagdvs ssvrlmeqlv dildaqlqel kpsekdsagr synklqkrek
      601 tcraylkaiv dtvdnllrpe aleswkhmns seqahtatml ldtleegafv ladnlleptr
      661 vsmptenivl evavlstegq iqdfkfplgi kgagssiqls antvkqnsrn glaklvfiiy
      721 rslgqflste natiklgadf igrnstiavn shvisvsink essrvyltdp vlftlphidp
      781 dnyfnancsf wnysertmmg ywstqgcklv dtnktrttca cshltnfail mahreiaykd
      841 gvhellltvi twvgivislv claiciftfc ffrglqsdrn tihknlcinl fiaefiflig
      901 idktkyaiac pifagllhff flaafawmcl egvqlylmlv evfeseysrk kyyyvagylf
      961 patvvgvsaa idyksygtek acwlhvdnyf iwsfigpvtf iillniiflv itlckmvkhs
     1021 ntlkpdssrl enikswvlga fallcllglt wsfgllfine etivmaylft ifnafqgvfi
     1081 fifhcalqkk vrkeygkcfr hsyccgglpt esphssvkas ttrtsaryss gtqsrirrmw
     1141 ndtvrkqses sfisgdinst stlnqgltsh glrahlqdly hledih
//
LOCUS       XP_047273281             514 aa            linear   PRI 20-MAR-2023
DEFINITION  ZZ-type zinc finger-containing protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_047273281
VERSION     XP_047273281.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417325.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..514
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..514
                     /product="ZZ-type zinc finger-containing protein 3 isoform
                     X1"
                     /calculated_mol_wt=56718
     CDS             1..514
                     /gene="ZZZ3"
                     /gene_synonym="ATAC1"
                     /coded_by="XM_047417325.1:52..1596"
                     /db_xref="GeneID:26009"
                     /db_xref="HGNC:HGNC:24523"
                     /db_xref="MIM:619892"
ORIGIN      
        1 maasrstrvt rstvglngld esfcgrtlrn rsiahpeeis snsqvrsrsp kkrpepvpiq
       61 kgnnngrttd lkqqstresw vsprkrglss sekdnierqa iencerrqte pvspvlkrik
      121 rclrseapns seedspiksd kesveqrstv vdndadfqgt kracrclild dcekreikkv
      181 nvseegplns avveeitgyl avngvddsds avincddcqp dgntkqnsig syvlqeksva
      241 engdtdtqts mfldsrkeds yidhkvpctd sqvqvkledh kivtaclpve hvnqlttepa
      301 tgpfsetqss lrdseeevdv vgdssaskeq ckentnneld tslesmpasg epepspvldc
      361 vsaqmmslse pqehrytlrt sprraaptrg sptknsspyr engqfeennl spnetnatvs
      421 dnvsqsptnp geisqnekgi ccdsqnngse gvskppsear lnighlpsak esasqhitee
      481 edddpdvyyf esdhvalkhn keyfvtqedl iysq
//
LOCUS       XP_047283645             824 aa            linear   PRI 20-MAR-2023
DEFINITION  FHF complex subunit HOOK interacting protein 1B isoform X5 [Homo
            sapiens].
ACCESSION   XP_047283645
VERSION     XP_047283645.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427689.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..824
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..824
                     /product="FHF complex subunit HOOK interacting protein 1B
                     isoform X5"
                     /calculated_mol_wt=90096
     Region          97..426
                     /region_name="RAI16-like"
                     /note="Retinoic acid induced 16-like protein; pfam10257"
                     /db_xref="CDD:370927"
     Region          449..>559
                     /region_name="KLF9_13_N-like"
                     /note="Kruppel-like factor (KLF) 9, KLF13, KLF14, KLF16,
                     and similar proteins; cl41730"
                     /db_xref="CDD:425361"
     Region          752..>813
                     /region_name="DUF5917"
                     /note="Family of unknown function (DUF5917); pfam19314"
                     /db_xref="CDD:437146"
     CDS             1..824
                     /gene="FHIP1B"
                     /gene_synonym="C11orf56; FAM160A2; FHIP"
                     /coded_by="XM_047427689.1:285..2759"
                     /db_xref="GeneID:84067"
                     /db_xref="HGNC:HGNC:25378"
                     /db_xref="MIM:620229"
ORIGIN      
        1 mermnwlsrl asrgpghrip qganlqtpvm adpetclmvf knhwsqvvri lerqgpraap
       61 ggaddlsavr nhtyqmltll aedravpsap tgpgpllefa lhedlltrvl twqlqwdelg
      121 dgveerraeq lklfemlvse arqpllrhgp vrealltlld acgrpvpssp aldeglvlll
      181 sqlcvcvaqe psllefflqp ppepgaaprl llfsrlvpfv hregtlgqqa rdallllmal
      241 sagsptvgry iadhsyfcpv latglsalys slprkievpg ddwhclrred wlgvpalalf
      301 msslefcnav iqvahplvqk qlvdyihngf lvpvmgpalh ktsveemias taylelflrs
      361 isepallrtf lrflllhrhd thtildtlva rigsnsrlcm vslslfrtll nlscedvllq
      421 lvlrylvpcn hvmlsqkpav rdvdlygraa dkflsliprc crhhapsppr pehaswargg
      481 psretgrred itgpgspsvd sssvttvprp stpsrlalfl rqqslggses pgpapcspgl
      541 saspasspgr rptpaeepge lednyleylr earrgvdrcv racrtwsapy dgerpspeps
      601 pfgsrtkkrs llpeedrnnv gegeeeelgr rgraggageg pghlpppqln gvpgswpega
      661 kkvrlvpkeg agellegise gmaglegfgq elrelevals nggtgsespl epplpleeee
      721 ayesftcppe ppgpflsspl rtlnqlpsqp ftgpfmavlf aklenmlqns vyvnflltgl
      781 vaqlachpqp llrsfllntn mvfqpsvksl lqvcdacmhg cwal
//
LOCUS       XP_016873937            1266 aa            linear   PRI 20-MAR-2023
DEFINITION  liprin-alpha-1 isoform X10 [Homo sapiens].
ACCESSION   XP_016873937
VERSION     XP_016873937.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017018448.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 10% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1266
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1266
                     /product="liprin-alpha-1 isoform X10"
                     /calculated_mol_wt=142341
     Region          <45..687
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          246..>546
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          939..1009
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat1"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     1; cd09562"
                     /db_xref="CDD:188961"
     Region          1026..1091
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat2"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     2; cd09565"
                     /db_xref="CDD:188964"
     Region          1111..1182
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat3"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     3; cd09568"
                     /db_xref="CDD:188967"
     CDS             1..1266
                     /gene="PPFIA1"
                     /gene_synonym="LIP.1; LIP1; LIPRIN"
                     /coded_by="XM_017018448.2:226..4026"
                     /db_xref="GeneID:8500"
                     /db_xref="HGNC:HGNC:9245"
                     /db_xref="MIM:611054"
ORIGIN      
        1 mmcevmptis eaegppgggg ghgsgspsqp dadshfeqlm vsmleerdrl ldtlretqet
       61 laltqgklhe vgherdslqr qlntalpqef aaltkelnvc reqllereee iaelkaernn
      121 trlllehlec lvsrherslr mtvvkrqaqs pagvssevev lkalkslfeh hkaldekvre
      181 rlrvalercs lleeelgath kelmilkeqn nqkktltdgv ldinheqent pstsgkrssd
      241 gslsheedla kvielqeiis kqsreqsqmk erlaslsshv teleedldta rkdlikseem
      301 ntklqrdvre amaqkedmee rittlekryl aaqreatsvh dlndklenei ankdsmhrqt
      361 edknrqlqer lelaeqklqq tlrkaetlpe veaelaqrva alsksdllss gssaakeakl
      421 leltsklrka eerhgnieer lrqmeaqlee knqelqrarq rekmneehnk rlsdtvdkll
      481 sesnerlqlh lkermaaled knsllreves akkqleetqh dkdqlvlnie alraeldhmr
      541 lrgaslhhgr phlgsvpdfr fpmadghtds ystsavlrrp qkgrlaalrd epskvqtlne
      601 qdweraqqas vlanvaqafe sdadvsdged drdtllssvd llspsgqada htlammlqeq
      661 ldainkeirl iqeekenteq raeeiesrvg sgsldnlgrf rsmssippyp asslassspp
      721 gsgrstprri phsparevdr lgvmtlpspd sfliqtsgph qsvvysstsp psstpcysds
      781 sqhaqlppsr eevrddktti kcetsppssp ralrldrlhk galhtvshed irdirnstgs
      841 qdgpvsnpss snssqdslhk apkkkgikss igrlfgkkek grpgqtgkea lgqagvsetd
      901 nssqdalgls klggqaeknr klqkkhelle earrqglpfa qwdgptvvvw lelwvgmpaw
      961 yvaacranvk sgaimsalsd teiqreigis nplhrlklrl aiqeimslts psapptsrtt
     1021 laygdmnhew ignewlpslg lpqyrsyfme clvdarmldh ltkkdlrgql kmvdsfhrns
     1081 fqcgimclrr lnydrkeler kreesqseik dvlvwsndrv irwilsiglk eyannliesg
     1141 vhgallalde tfdfsalall lqiptqntqa ravlerefnn llvmgtdrrf dedddksfrr
     1201 apswrkkfrp kdirglaags aetlpanfrv tssmsspsmq pkkmqmdgnv sgtqrldsat
     1261 vrtysc
//
LOCUS       XP_011537312            1111 aa            linear   PRI 20-MAR-2023
DEFINITION  electroneutral sodium bicarbonate exchanger 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011537312
VERSION     XP_011537312.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011539010.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1111
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1111
                     /product="electroneutral sodium bicarbonate exchanger 1
                     isoform X1"
                     /calculated_mol_wt=124819
     Region          117..1023
                     /region_name="Band_3_cyto"
                     /note="Band 3 cytoplasmic domain; cl26877"
                     /db_xref="CDD:452680"
     CDS             1..1111
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /coded_by="XM_011539010.2:158..3493"
                     /db_xref="GeneID:9498"
                     /db_xref="HGNC:HGNC:11034"
                     /db_xref="MIM:605024"
ORIGIN      
        1 mpaagsnepd gvlsyqrpde eavvdqggts tilnihyeke eleghrtlyv gvrmplgrqs
       61 hrhhrthgqk hrrrgrgkga sqgeegleal ahdtpsqrvq filgteedee hvphelftel
      121 deicmkeged aewketarwl kfeedvedgg erwskpyvat lslhslfelr sclingtvll
      181 dmhansieei sdlildqqel ssdlndsmrv kvreallkkh hhqnekkrnn lipivrsfae
      241 vgkkqsdphl mdkhgqtvsp qsvpttnlev kngvncehsp vdlskvdlhf mkkiptgaea
      301 snvlvgevdi ldrpivafvr lspavllsgl tevpiptrfl fillgpvgkg qqyheigrsm
      361 atimtdeifh dvaykakerd dllagidefl dqvtvlppge wdpsiriepp knvpsqekrk
      421 mpgvpngnvc hieqephggh sgpelqrtgr lfgglvldik rkapwywsdy rdalslqcla
      481 sflflycacm spvitfggll geategrisa ieslfgasmt giayslfagq altilgstgp
      541 vlvfekilfk fckdyalsyl slraciglwt aflcivlvat dasslvcyit rfteeafasl
      601 iciifiyeai eklihlaety pihmhsqldh lslyycrctl penpnnhtlq ywkdhnivta
      661 evhwanltvs ecqemhgefm gsacghhgpy tpdvlfwsci lffttfilss tlktfktsry
      721 fptrvrsmvs dfavfltift mviidfligv pspklqvpsv fkptrddrgw iinpigpnpw
      781 wtviaaiipa llctilifmd qqitaviinr kehklkkgcg yhldllmvai mlgvcsimgl
      841 pwfvaatvls ithvnslkle secsapgeqp kflgireqrv tglmifvlmg csvfmtailk
      901 fipmpvlygv flymgvsslq giqsqfpfls rgngvtylse qffdrlklfg mpakhqpdfi
      961 ylrhvplrkv hlftliqltc lvllwvikas paaivfpmmv lalvfvrkvm dlcfskrels
     1021 wlddlmpesk kkklddakkk akeeeeaekm leiggdkfpl esrkllsspg kniscrcdps
     1081 einisdempk ttvwkalsmn sgnakekslf n
//
LOCUS       XP_005266389             886 aa            linear   PRI 20-MAR-2023
DEFINITION  PAN2-PAN3 deadenylation complex subunit PAN3 isoform X1 [Homo
            sapiens].
ACCESSION   XP_005266389
VERSION     XP_005266389.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005266332.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..886
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..886
                     /product="PAN2-PAN3 deadenylation complex subunit PAN3
                     isoform X1"
                     /calculated_mol_wt=95411
     Region          45..68
                     /region_name="zf-CCCH"
                     /note="Zinc finger C-x8-C-x5-C-x3-H type (and similar);
                     pfam00642"
                     /db_xref="CDD:425793"
     Region          492..>660
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(497..500,503,505,518,520,548,564..567,639,643..644,
                     646,656..657)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     Region          <609..732
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          741..878
                     /region_name="Pan3_PK"
                     /note="Pan3 Pseudokinase domain; pfam18101"
                     /db_xref="CDD:436274"
     CDS             1..886
                     /gene="PAN3"
                     /coded_by="XM_005266332.4:114..2774"
                     /db_xref="GeneID:255967"
                     /db_xref="HGNC:HGNC:29991"
                     /db_xref="MIM:617448"
ORIGIN      
        1 mnsggglppp saaaspssss laaavavvap pgvggvpgga avgvklkycr yyakdktcfy
       61 geecqflhed paagaapglg lhsnsvplal agapvagfpp gavagggagp ppgpkkpdlg
      121 dpgtgaaagg ggssggldgp rlaipgmdgg altdtsltds yfstsfigvn gfgspvetky
      181 plmqrmtnss sspsllndsa kpysahdplt spasslfndf galnisqrrk prkyrlgmle
      241 erlvpmgska rkaknpigcl adrcksgvpi nmvwwnrvte nnlqtpnpta sefipkggst
      301 srlsnvsqsn msafsqvfsh psmgspatag lapgmslsag ssplhspkit phtspaprrr
      361 shtpnpasym vpssastsvn npvsqtpssg qviqketvgg ttyfytdttp apltgmvfpn
      421 yhiypptaph vaymqpkana psffmadelr qelinrhlit maqidqadmp vptevdsyhs
      481 lfpleplppp nriqkssnfg yitscykavn skddlpyclr rihgfrlvnt kcmvlvdmwk
      541 kiqhsnivtl revfttkafa epslvfaydf haggetmmsr hfndpnaday ftkrkwgqhe
      601 gplprqhagl lpesliwayi vqlssalrti htaglacrvm dptkilitgk trlrvncvgv
      661 fdvltfdnsq nnnplalmaq yqqadlislg kvvlalacns lagiqrenlq kamelvtiny
      721 ssdlknlily lltdqnrmrs vndimpmiga rfytqldaaq mrndvieedl akevqngrlf
      781 rllaklgtin erpefqkdpt wsetgdryll klfrdhlfhq vteagapwid lshiisclnk
      841 ldagvpekis lisrdeksvl vvtysdlkrc fentfqelia aangql
//
LOCUS       XP_047286716            1078 aa            linear   PRI 20-MAR-2023
DEFINITION  stAR-related lipid transfer protein 13 isoform X2 [Homo sapiens].
ACCESSION   XP_047286716
VERSION     XP_047286716.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430760.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1078
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..1078
                     /product="stAR-related lipid transfer protein 13 isoform
                     X2"
                     /calculated_mol_wt=120539
     Region          22..85
                     /region_name="SAM_DLC2"
                     /note="SAM domain of STARD13-like subfamily; cd09592"
                     /db_xref="CDD:188991"
     Site            order(36,39,41)
                     /site_type="lipid-binding"
                     /note="lipid binding site [chemical binding]"
                     /db_xref="CDD:188991"
     Region          622..839
                     /region_name="RhoGAP_DLC1"
                     /note="RhoGAP (GTPase-activator protein [GAP] for Rho-like
                     small GTPases) domain of DLC1-like proteins. DLC1 shows in
                     vitro GAP activity towards RhoA and CDC42. Beside its
                     C-terminal GAP domain, DLC1 also contains a SAM (sterile
                     alpha motif) and a START...; cd04375"
                     /db_xref="CDD:239840"
     Site            order(664,701,705,774,777..778,819)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239840"
     Site            664
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239840"
     Region          865..1069
                     /region_name="START_STARD13-like"
                     /note="C-terminal lipid-binding START domain of mammalian
                     STARD13 and related proteins, which also have an
                     N-terminal Rho GTPase-activating protein (RhoGAP) domain;
                     cd08909"
                     /db_xref="CDD:176918"
     Site            order(896..897,905,918,920,931,935,939,942..943,945..946,
                     964,966..969,972,975,977,979,996,1012,1014..1017,1019,
                     1031,1033,1035,1037,1039,1041,1048,1050..1052,1054..1056,
                     1058..1059,1062)
                     /site_type="other"
                     /note="putative lipid binding site [chemical binding]"
                     /db_xref="CDD:176918"
     CDS             1..1078
                     /gene="STARD13"
                     /gene_synonym="ARHGAP37; DLC2; GT650; LINC00464"
                     /coded_by="XM_047430760.1:9810..13046"
                     /db_xref="GeneID:90627"
                     /db_xref="HGNC:HGNC:19164"
                     /db_xref="MIM:609866"
ORIGIN      
        1 mstgtqpktk vlsdnrpker veieakeacd wlraagfpqy aqlyedsqfp inivavkndh
       61 dflekdlvep lcrrlntlnk casmkldvnf qrkkgddsde edlcisnkwt fqrtsrrwsr
      121 vddlytllpr gdrngspggt gmrnttsses vltdlsepev csihsessgg sdsrsqpgqc
      181 ctdnpvmlda plvssslpqp prdvlnhpfh pknekptrar aksflkrmet lrgkgahgrh
      241 kgsgrtgglv isgpmlqqep esfkamqciq ipngdlqnsp ppacrkglpc sgkssgessp
      301 sehsssgvst pclkerkche ankrggmyle dldvlagtal pdagdqsrmh efhsqenlvv
      361 hipkdhkpgt fpkalsiesl sptdssngvn wrtgsislgr eqvpgarepr lmaschrasr
      421 vsiydnvpgs hlyastgdll dlekddlfph lddilqhvng lqevvddwsk dvlpelqthd
      481 tlvgepglst fpspnqitld fegnsvsegr ttpsdverdv tslneseppg vrdrrdsgvg
      541 asltrpnrrl rwnsfqlshq prpapasphi ssqtasqlsl lqrfsllrlt aimekhsmsn
      601 khgwtwsvpk fmkrmkvpdy kdkavfgvpl ivhvqrtgqp lpqsiqqalr ylrsncldqv
      661 glfrksgvks rihalrqmne nfpenvnyed qsaydvadmv kqffrdlpep lftnklsetf
      721 lhiyqyvske qrlqavqaai llladenrev lqtllcflnd vvnlveenqm tpmnlavcla
      781 pslfhlnllk kessprviqk kyatgkpdqk dlnenlaaaq glahmimecd rlfevphelv
      841 aqsrnsyvea eihvptleel gtqleesgat fhtylnhliq glqkeakekf kgwvtcsstd
      901 ntdlafkkvg dgnplklwka sveveappsv vlnrvlrerh lwdedfvqwk vvetldrqte
      961 iyqyvlnsma phpsrdfvvl rtwktdlpkg mctlvslsve heeaqllggv ravvmdsqyl
     1021 iepcgsgksr lthicridlk ghspewyskg fghlcaaeva rirnsfqpli aegpetki
//
LOCUS       XP_011521079             711 aa            linear   PRI 20-MAR-2023
DEFINITION  telomere length regulation protein TEL2 homolog isoform X4 [Homo
            sapiens].
ACCESSION   XP_011521079
VERSION     XP_011521079.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011522777.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..711
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..711
                     /product="telomere length regulation protein TEL2 homolog
                     isoform X4"
                     /calculated_mol_wt=77720
     Region          512..620
                     /region_name="Telomere_reg-2"
                     /note="Telomere length regulation protein; pfam10193"
                     /db_xref="CDD:431126"
     CDS             1..711
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /coded_by="XM_011522777.4:283..2418"
                     /db_xref="GeneID:9894"
                     /db_xref="HGNC:HGNC:29099"
                     /db_xref="MIM:611140"
ORIGIN      
        1 mepapsevrl avreaihals ssedgghifc tleslkrylg emeppalpre keefasahfs
       61 pvlrclasrl spawlellph grleelwasf flegpadqaf lvlmetiega agpsfrlmkm
      121 arllarflre grlavlmeaq crqqtqpgfi llretllgkv valpdhlgnr lqqenlaeff
      181 pqnyfrllge evvrvlqavv dslqggldss vsfvsqvlgk acvhgrqqei lgvlvprlaa
      241 ltqgsylhqr vcwrlveqvp drameavltg lveaalgpev lsrllgnlvv knkkaqfvmt
      301 qkllflqsrl ttpmlqsllg hlamdsqrrp lllqvlkell etwgsssair htplpqqrhv
      361 skavliclaq lgepelrdsr dellasmmag vkcrldsslp pvrrlgmiva evvsarihpe
      421 gpplkfqyee delslellal aspqpagdga seagtslvpa taeppaetpa eivdggvpqa
      481 qlagsdsdld sddefvpydm sgdrelkssk apayvrdcve alttsedier weaalraleg
      541 lvyrsptatr evsvelakvl lhleektcvv gfaglrqral vavtvtdpap vadyltsqfy
      601 alnyslrqrm dildvltlaa qelsrpgclg rtpqpgspsp ntpclpeaav sqpgsavasd
      661 wrvvveerir sktqrlsklc lagwpeagpg rqpqqiqlrg rplllpppsa l
//
LOCUS       XP_047292724             285 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-CoA-binding domain-containing protein 4 isoform X14 [Homo
            sapiens].
ACCESSION   XP_047292724
VERSION     XP_047292724.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436768.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..285
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..285
                     /product="acyl-CoA-binding domain-containing protein 4
                     isoform X14"
                     /calculated_mol_wt=31982
     Region          13..97
                     /region_name="ACBP"
                     /note="Acyl CoA binding protein (ACBP) binds thiol esters
                     of long fatty acids and coenzyme A in a one-to-one binding
                     mode with high specificity and affinity. Acyl-CoAs are
                     important intermediates in fatty lipid synthesis and fatty
                     acid degradation and play a...; cd00435"
                     /db_xref="CDD:238248"
     Site            order(20,23..24,26,33..34,36,39..40,42..43,46..47,64..65,
                     68..69,88)
                     /site_type="other"
                     /note="acyl-CoA binding pocket [chemical binding]"
                     /db_xref="CDD:238248"
     Site            order(24,43,46..47,69,88)
                     /site_type="other"
                     /note="CoA binding site [chemical binding]"
                     /db_xref="CDD:238248"
     CDS             1..285
                     /gene="ACBD4"
                     /gene_synonym="HMFT0700"
                     /coded_by="XM_047436768.1:696..1553"
                     /db_xref="GeneID:79777"
                     /db_xref="HGNC:HGNC:23337"
                     /db_xref="MIM:619968"
ORIGIN      
        1 mgtekespep dcqkqfqaav sviqnlpkng syrpsyeeml rfysyykqat mgpclvprpg
       61 fwdpigrykw dawnslgkms reeamsayit emklvaqkvi dtvplgevae dmfgyfeply
      121 qvipdmprpp etflrrvtgw keqvvngdvg avseppclpk epappspasl wavtlptppq
      181 spihpgtwtp rfsvipwssw slscrfgqss gqhleesvip gtapcppqrk rgcgaarrgp
      241 rswtcgcwgq fehyrracrr crrgcrawra cpgplssltl svrle
//
LOCUS       XP_011523786             618 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-dependent DNA helicase Q5 isoform X4 [Homo sapiens].
ACCESSION   XP_011523786
VERSION     XP_011523786.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011525484.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..618
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..618
                     /product="ATP-dependent DNA helicase Q5 isoform X4"
                     /calculated_mol_wt=67226
     Region          <16..40
                     /region_name="RecQ_Zn_bind"
                     /note="RecQ zinc-binding; pfam16124"
                     /db_xref="CDD:435155"
     Region          231..432
                     /region_name="RecQ5"
                     /note="RecQ helicase protein-like 5 (RecQ5); pfam06959"
                     /db_xref="CDD:399738"
     Region          <376..537
                     /region_name="UNC80"
                     /note="Protein UNC80; pfam19424"
                     /db_xref="CDD:437256"
     Region          540..>579
                     /region_name="SRI"
                     /note="SRI (Set2 Rpb1 interacting) domain; pfam08236"
                     /db_xref="CDD:429880"
     CDS             1..618
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /coded_by="XM_011525484.2:316..2172"
                     /db_xref="GeneID:9400"
                     /db_xref="HGNC:HGNC:9950"
                     /db_xref="MIM:603781"
ORIGIN      
        1 mvrnlrllrq pthcrrcrha aiakyfgdal pacakgcdhc qnptavrrrl ealersssws
       61 ktcigpsqgn gfdpelyegg rkgygdfsry degsggsgde grdeahkrew nlfyqkqmql
      121 rkgkdpkiee fvppdencpl keassrripr ltvkarehcl rlleealssn rqstrtadea
      181 dlrakavele hetfrnakva nlykasvlkk vadihraskd gqpydmggsa kscsaqaepp
      241 epneydippa shvyslkpkr vgagfpkgsc pfqtatelme ttrireqapq perggehepp
      301 srpcgllded gseplpgprg evpggsahyg gpspekkaks ssggsslakg raskkqqlla
      361 taahkdsqsi arffcrrves pallasapea egacpscegv qgppmapeky tgeedgaggh
      421 spappqteec lrerprppgm reppgpsavm palpststcp prdqgtpevq ptpakdtwkg
      481 krprsqqenp esqpqkrprp sakpsvvaev kgsvsaseqg tlnptaqdpf qlsapgvslk
      541 eaanvvvkcl tpfykegkfa skelfkgfar hlshlltqkt spgrsvkeea qnlirhffhg
      601 rarceseadw hglcgpqr
//
LOCUS       XP_047293180            1943 aa            linear   PRI 20-MAR-2023
DEFINITION  probable helicase with zinc finger domain isoform X3 [Homo
            sapiens].
ACCESSION   XP_047293180
VERSION     XP_047293180.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437224.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1943
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1943
                     /product="probable helicase with zinc finger domain
                     isoform X3"
                     /calculated_mol_wt=218927
     Region          181..205
                     /region_name="zf-CCCH"
                     /note="Zinc finger C-x8-C-x5-C-x3-H type (and similar);
                     pfam00642"
                     /db_xref="CDD:425793"
     Region          641..868
                     /region_name="DEXXQc_HELZ"
                     /note="DEXXQ-box helicase domain of HELZ; cd18077"
                     /db_xref="CDD:350835"
     Site            order(646,671..676,826,867..868)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350835"
     Region          869..1069
                     /region_name="SF1_C_Upf1"
                     /note="C-terminal helicase domain of Upf1-like family
                     helicases; cd18808"
                     /db_xref="CDD:350195"
     Site            order(956..958,980,982..983,998)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:350195"
     Site            order(986,988,1041)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350195"
     CDS             1..1943
                     /gene="HELZ"
                     /gene_synonym="DHRC; DRHC; HUMORF5"
                     /coded_by="XM_047437224.1:307..6138"
                     /db_xref="GeneID:9931"
                     /db_xref="HGNC:HGNC:16878"
                     /db_xref="MIM:606699"
ORIGIN      
        1 medrraeksc eqaceslkrq dyemalkhct eallslgqys madftgpcpl eierikiesl
       61 lyriasflql knyvqadedc rhvlgeglak gedafravlc cmqlkgklqp vstilakslt
      121 geslngmvtk dltrlktlls etetatsnal sgyhvedlde gscngwhfrp pprgitssee
      181 ytlckrfleq gicrygaqct sahsqeelae wqkryasrli klkqqnenkq lsgsymetli
      241 ekwmnslspe kvlseciegv kvehnpdlsv tvstkkshqt wtfaltckpa rmlyrvally
      301 dahrphfsii aisagdsttq vsqevpencq ewiggkmaqn gldhyvykvg iafnteifgt
      361 frqtivfdfg lepvlmqrvm idaastedle ylmhakqqlv ttakrwdsss ktiidfepne
      421 ttdlekslli ryqiplsadq lftqsvldks ltksnyqsrl hdllyieeia qykeiskfnl
      481 kvqlqilasf mltgvsggak yaqngqlfgr fkltetlsed tlagrlvmtk vnavyllpvp
      541 kqklvqtqgt kekvyeatie ektkeyiflr lsrecceeln lrpdcdtqve lqfqlnrlpl
      601 cemhyaldri kdngvlfpdi smtptipwsp nrqwdeqldp rlnakqkeav laittplaiq
      661 lppvliigpy gtgktftlaq avkhilqqqe tsrilicths nsaadlyikd ylhpyveagn
      721 pqarplrvyf rnrwvktvhp vvhqycliss ahstfqmpqk edilkhrvvv vtlntsqylc
      781 qldlepgfft hilldeaaqa mecetimpla latqntrivl agdhmqlspf vysefarern
      841 lhvslldrly ehypaefpcr illcenyrsh eaiinytsel fyegklmasg kqpahkdfyp
      901 ltfftarged vqeknstafy nnaevfevve rveelrrkwp vawgklddgs igvvtpyadq
      961 vfriraelrk krlsdvnver vlnvqgkqfr vlflstvrtr htckhkqtpi kkkeqlleds
     1021 tedldygfls nykllntait raqslvavvg dpialcsigr crkfwerfia lchensslhg
     1081 itfeqikaql ealelkktyv lnplapefip ralrlqhsgs tnkqqqsppk gkslhhtqnd
     1141 hfqndgivqp npsvlignpi raytpppplg phpnlgksps pvqridphtg tsilyvpavy
     1201 ggnvvmsvpl pvpwtgyqgr favdpriith qaamaynmnl lqthgrgspi pyglghhppv
     1261 tigqpqnqhq ekdqheqnrn gksdtnnsgp einkirtpek kptepkqvdl esnpqnrspe
     1321 srpsvvypst kfprkdnlnp rhinlplpap haqyaipnrh fhplpqlprp pfpipqqhtl
     1381 lnqqqnnlpe qpnqippqpn qvvqqqsqln qqpqqpppql spayqagpnn affnsavahr
     1441 pqsppaeavi peqqpppmlq eghsplraia qpgpilpshl nsfidenpsg lpigealdri
     1501 hgsvaletlr qqqarfqqws ehhaflsqgs apyphhhhph lqhlpqpplg lhqppvradw
     1561 kltssaedev ettysrfqdl irelshrdqs etrelaempp pqsrllqyrq vqsrsppavp
     1621 sppsstdhss hfsnfndnsr dievasnpaf pqrlppqifn spfslpsehl appplkylap
     1681 dgawtfanlq qnhlmgpgfp yglpplphrp pqnpfvqiqn hqhaigqepf hplssrtvss
     1741 sslpsleeye prgpgrplyq rrissssvqp cseevstpqd slaqckelqd hsnqssfnfs
     1801 speswvntts stpyqnipcn gssrtaqpre liappktvkp pedqlksenl evsssfnysv
     1861 lqhlgqfppl mpnkqiaesa nssspqssag gkpamsyasa lrappkprpp peqakkssdp
     1921 lslfqelslg sssgsngfys yfk
//
LOCUS       XP_047293283             713 aa            linear   PRI 20-MAR-2023
DEFINITION  dystrobrevin alpha isoform X12 [Homo sapiens].
ACCESSION   XP_047293283
VERSION     XP_047293283.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437327.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..713
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..713
                     /product="dystrobrevin alpha isoform X12"
                     /calculated_mol_wt=80402
     Region          54..214
                     /region_name="EFh_DTNA"
                     /note="EF-hand-like motif found in alpha-dystrobrevin;
                     cd16249"
                     /db_xref="CDD:320007"
     Region          54..95
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320007"
     Region          104..138
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320007"
     Region          144..180
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320007"
     Region          191..214
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320007"
     Region          241..289
                     /region_name="ZZ_dystrophin"
                     /note="Zinc finger, ZZ type. Zinc finger present in
                     dystrophin and dystrobrevin. The ZZ motif coordinates two
                     zinc ions and most likely participates in ligand binding
                     or molecular scaffolding. Dystrophin attaches actin
                     filaments to an integral membrane...; cd02334"
                     /db_xref="CDD:239074"
     Site            order(243,246,258,261,267,270,280,284)
                     /site_type="other"
                     /note="Zinc-binding sites [ion binding]"
                     /db_xref="CDD:239074"
     Site            order(243,246,267,270)
                     /site_type="other"
                     /note="zinc cluster 1 [ion binding]"
                     /db_xref="CDD:239074"
     Site            order(244,255,257,263,265)
                     /site_type="active"
                     /note="putative charged binding surface [active]"
                     /db_xref="CDD:239074"
     Site            order(256,271,286,289)
                     /site_type="active"
                     /note="putative hydrophobic binding surface [active]"
                     /db_xref="CDD:239074"
     Site            order(258,261,280,284)
                     /site_type="other"
                     /note="zinc cluster 2 [ion binding]"
                     /db_xref="CDD:239074"
     Region          438..>628
                     /region_name="MscK"
                     /note="Small-conductance mechanosensitive channel [Cell
                     wall/membrane/envelope biogenesis]; COG3264"
                     /db_xref="CDD:225803"
     Region          446..>516
                     /region_name="PRK05431"
                     /note="seryl-tRNA synthetase; Provisional"
                     /db_xref="CDD:235461"
     CDS             1..713
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
                     /coded_by="XM_047437327.1:420..2561"
                     /db_xref="GeneID:1837"
                     /db_xref="HGNC:HGNC:3057"
                     /db_xref="MIM:601239"
ORIGIN      
        1 miedsgkrgn tmaerrqlfa emraqdldri rlstyrtack lrfvqkkcnl hlvdiwnvie
       61 alrenalnnl dpntelnvsr leavlstify qlnkrmptth qihveqsisl llnfllaafd
      121 peghgkisvf avkmalatlc ggkimdklry ifsmisdssg vmvygrydqf lrevlklpta
      181 vfegpsfgyt eqsarscfsq qkkvtlngfl dtlmsdpppq clvwlpllhr lanvenvfhp
      241 vecsychses mmgfryrcqq chnyqlcqdc fwrghaggsh snqhqmkeyt swkspakklt
      301 nalskslsca ssreplhpmf pdqpekplnl ahivpprpvt smndtlfshs vpssgspfit
      361 rrlpegisas spvaeehsli klyvnqldhg armlessnrl deehrliary aarlaaesss
      421 sqppqqrsap disftidank qqrqliaele nknreilqei qrlrleheqa sqptpekaqq
      481 nptllaelrl lrqrkdeleq rmsalqesrr elmvqleglm kllktqgags prsspshtis
      541 rpipmpirsa sacstpthtp qdsltgvggd vqeafaqssr rnlrndllva adsitntmss
      601 lvkelnsevg setesnvdse fartqfedlv psptsekafl aqiharkpgy ihsgattstm
      661 rgdmvtedad pyvqpedeny endsvrqlen elqmeeylkq klqdeayqvs lqg
//
LOCUS       XP_011509279             727 aa            linear   PRI 20-MAR-2023
DEFINITION  glycerol-3-phosphate dehydrogenase, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_011509279
VERSION     XP_011509279.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011510977.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..727
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..727
                     /product="glycerol-3-phosphate dehydrogenase,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=80722
     Region          1..599
                     /region_name="DAO"
                     /note="FAD dependent oxidoreductase; cl40741"
                     /db_xref="CDD:454824"
     Region          627..689
                     /region_name="EFh"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     cd00051"
                     /db_xref="CDD:238008"
     Site            order(636,638,640,647,672,674,676,683)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238008"
     CDS             1..727
                     /gene="GPD2"
                     /gene_synonym="GDH2; GPDM; mGDH; mGPDH"
                     /coded_by="XM_011510977.3:129..2312"
                     /db_xref="GeneID:2820"
                     /db_xref="HGNC:HGNC:4456"
                     /db_xref="MIM:138430"
ORIGIN      
        1 mafqkavkgt ilvgggalat vlglsqfahy rrkqmnlayv kaadcisepv nreppsreaq
       61 lltlqntsef dilvigggat gsgcaldavt rglktalver ddfssgtssr stklihggvr
      121 ylqkaimkld ieqyrmvkea lheranllei aphlsaplpi mlpvykwwql pyywvgikly
      181 dlvagsnclk ssyvlsksra lehfpmlqkd klvgaivyyd gqhndarmnl aialtaaryg
      241 aatanymevv sllkktdpqt gkvrvsgarc kdvltgqefd vrakcvinat gpftdsvrkm
      301 ddkdaaaicq psagvhivmp gyyspesmgl ldpatsdgrv ifflpwqkmt iagttdtptd
      361 vthhpipsee dinfilnevr nylscdvevr rgdvlaawsg irplvtdpks adtqsisrnh
      421 vvdisesgli tiaggkwtty rsmaedtina avkthnlkag psrtvglflq ggkdwsptly
      481 irlvqdygle sevaqhlaat ygdkafevak masvtgkrwp ivgvrlvsef pyieaevkyg
      541 ikeyactavd misrrtrlaf lnvqaaeeal privelmgre lnwddykkqe qletarkfly
      601 yemgyksrse qltdrseisl lpsdidrykk rfhkfdadqk gfitivdvqr vlesinvqmd
      661 entlheilne vdlnkngqve lneflqlmsa iqkgrvsgsr lailmktaee nldrrvpipv
      721 drscggl
//
LOCUS       XP_047299996            2242 aa            linear   PRI 20-MAR-2023
DEFINITION  bromodomain adjacent to zinc finger domain protein 2B isoform X3
            [Homo sapiens].
ACCESSION   XP_047299996
VERSION     XP_047299996.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444040.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..2242
                     /product="bromodomain adjacent to zinc finger domain
                     protein 2B isoform X3"
                     /calculated_mol_wt=248236
     Region          744..816
                     /region_name="HAT_MBD"
                     /note="Methyl-CpG binding domains (MBD) present in
                     putative chromatin remodelling factor such as BAZ2A; BAZ2A
                     contains a MBD, DDT, PHD-type zinc finger and Bromo domain
                     suggesting that BAZ2A might be associated with histone
                     acetyltransferase (HAT) activity. The...; cd01397"
                     /db_xref="CDD:238691"
     Site            order(756,758,760,767,769,778,781,785)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238691"
     Region          897..>1072
                     /region_name="TPH"
                     /note="Trichohyalin-plectin-homology domain; pfam13868"
                     /db_xref="CDD:433539"
     Region          1100..1162
                     /region_name="DDT"
                     /note="domain in different transcription and chromosome
                     remodeling factors; smart00571"
                     /db_xref="CDD:214726"
     Region          1383..>1415
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          <1723..1762
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          1978..2026
                     /region_name="PHD_BAZ2B"
                     /note="PHD finger found in bromodomain adjacent to zinc
                     finger domain protein 2B (BAZ2B); cd15630"
                     /db_xref="CDD:277100"
     Site            order(1986,1992..1996,2014..2017)
                     /site_type="other"
                     /note="H3 histone binding site [polypeptide binding]"
                     /db_xref="CDD:277100"
     Region          2111..2207
                     /region_name="Bromo_BAZ2A_B_like"
                     /note="Bromodomain, BAZ2A/BAZ2B_like subfamily. Bromo
                     adjacent to zinc finger 2A (BAZ2A) and 2B (BAZ2B) were
                     identified as a novel human bromodomain gene by cDNA
                     library screening. BAZ2A is also known as Tip5
                     (Transcription termination factor I-interacting...;
                     cd05503"
                     /db_xref="CDD:99935"
     Site            order(2135,2140,2143,2182,2186,2192)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99935"
     CDS             1..2242
                     /gene="BAZ2B"
                     /gene_synonym="WALp4"
                     /coded_by="XM_047444040.1:855..7583"
                     /db_xref="GeneID:29994"
                     /db_xref="HGNC:HGNC:963"
                     /db_xref="MIM:605683"
ORIGIN      
        1 mesgerlpss aassttptss stpsvasvvs kgglstgvas lsstinpcgh lfrtagdqpf
       61 nlstvssafp mvshpvfglh sassghsefg glgtlgtpta laahpqlasf pgaewwrttd
      121 ahtrtgatff ppllgipplf appaqnhdss sfhsrtsgks nrngpekgvn gsingsntss
      181 vigintsvls ttasssmgqt kstssgggnr kcnqeqsknq pldarvdkik dkkprkkame
      241 sssnsdsdsg tssdtssegi sssdsddlee deeeedqsie esedddsdse seaqhksnnq
      301 vllhgisdpk adgqkateka qekrihqplp lasesqthsf qsqqkqpqvl sqqlpfifqs
      361 sqakeesvnk htsviqstgl vsnvkplslv nqakketymk livpspdvlk agnkntsees
      421 slltselrsk reqykqafps qlkkqessks lkkviaalsn pkatssspah pkqtlennhp
      481 npfltnallg nhqpngviqs viqeaplalt tktkmqskin eniaaasstp fsspvnlsts
      541 grrtpgnqtp vmpsaspilh sqgkekavsn nvnpvktqhh shpakslveq frgtdsdips
      601 skdsedsned eeeddeeede eddeddesdd sqsesdsnse sdtegseeed dddkdqdesd
      661 sdtegektsm klnkttssvk spsmsltghs tprnlhiaka pgsapaalcs esqspaflgt
      721 ssstltssph sgtskrrrvt derelriple ygwqretrir nfggrlqgev ayyapcgkkl
      781 rqypevikyl srngimdisr dnfsfsakir vgdfyeardg pqgmqwcllk eedviprira
      841 megrrgrppn pdrqrarees rmrrrkgrpp nvgnaefldn adakllrklq aqeiarqaaq
      901 ikllrklqkq eqarvakeak kqqaimaaee krkqkeqiki mkqqekikri qqirmekelr
      961 aqqileakkk kkeeaanakl leaekrikek emrrqqavll khqelerhrl dmvwererrr
     1021 qhmmlmkame arkkaeeker lkqekrdekr lnkerkleqr rlelemakel kkpnedmcla
     1081 dqkplpelpr ipglvlsgst fsdclmvvqf lrnfgkvlgf dvnidvpnls vlqegllnig
     1141 dsmgevqdll vrllsaavcd pglitgykak talgehllnv gvnrdnvsei lqifmeahcg
     1201 qtelteslkt kafqahtpaq kasvlaflin elacsksvvs eidknidyms nlrrdkwvve
     1261 gklrklriih akktgkrdts ggidlgeeqh plgtptpgrk rrrkggdsdy dddddddsdd
     1321 qgdeddedee dkedkkgkkt dicededegd qaasveelek qieklskqqs qyrrklfdas
     1381 hslrsvmfgq dryrrrywil pqcggifveg mesgegleei akereklkka esvqikeemf
     1441 etsgdslncs ntdhceqked lkekdntnlf lqkpgsfskl skllevakmp pesevmtpkp
     1501 nagangctls yqnsgkhslg svqstatqsn vekadsnnlf ntgssgpgkf ysplpndqll
     1561 ktlteknrqw fsllprtpcd dtslthadms taslvtpqsq ppskspsptp aplgssaqnp
     1621 vglnpfalsp lqvkggvsmm glqfcgwptg vvtsnipfts svpslgsglg lsegngnsfl
     1681 tsnvasskse spvpqnekat saqpaaveva kpvdfpspkp ipeemqfgww riidpedlka
     1741 llkvlhlrgi rekalqkqiq khldyitqac lknkdvaiie lneneenqvt rdivenwsve
     1801 eqamemdlsv lqqvedlerr vasaslqvkg wmcpepaser edlvyfehks ftklckehdg
     1861 eftgedessa halerksdnp ldiavtrlad lernierryl ksplsttiqi kldnvgtvtv
     1921 papapsvsgd gdgieediap glrvwrrals earsaaqval ciqqlqksia weksimkvyc
     1981 qicrkgdnee llllcdgcdk gchtychrpk ittipdgdwf cpaciakasg qtlkikklhv
     2041 kgkktneskk gkkvtltgdt ededsastss slkrgnkdlk krkmeentsi nlskqesfts
     2101 vkkpkrddsk dlalcsmilt emethedawp fllpvnlklv pgykkvikkp mdfstirekl
     2161 ssgqypnlet faldvrlvfd ncetfnedds digraghnmr kyfekkwtdt fkplcyedal
     2221 aaqpygaans yhqltspvpe as
//
LOCUS       XP_011527588             354 aa            linear   PRI 20-MAR-2023
DEFINITION  signal-regulatory protein gamma isoform X3 [Homo sapiens].
ACCESSION   XP_011527588
VERSION     XP_011527588.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011529286.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..354
                     /product="signal-regulatory protein gamma isoform X3"
                     /calculated_mol_wt=38831
     Region          1..110
                     /region_name="IgV_SIRP"
                     /note="Immunoglobulin (Ig)-like variable (V) domain of the
                     Signal-Regulatory Protein (SIRP); cd16097"
                     /db_xref="CDD:409516"
     Site            order(1..7,19,21,23,35,40,42,67..68,79,81..83,103..104,
                     106,108..109)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:409516"
     Site            order(1..7,19,21,23,67..68,103..104)
                     /site_type="other"
                     /note="FabOX117 binding site [polypeptide binding]"
                     /db_xref="CDD:409516"
     Region          1..21
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409516"
     Region          7..11
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409516"
     Region          14..22
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409516"
     Region          22..28
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409516"
     Site            order(29..31,69,88,91,96)
                     /site_type="other"
                     /note="CD47 binding site [polypeptide binding]"
                     /db_xref="CDD:409516"
     Region          29..37
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409516"
     Region          29..35
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409516"
     Region          38..52
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409516"
     Region          41..44
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409516"
     Region          50..53
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409516"
     Region          53..91
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409516"
     Region          54..58
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409516"
     Region          68..74
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409516"
     Region          82..89
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409516"
     Region          92..96
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409516"
     Region          96..101
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409516"
     Region          97..110
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409516"
     Region          104..109
                     /region_name="Ig strand G'"
                     /note="Ig strand G' [structural motif]"
                     /db_xref="CDD:409516"
     Region          112..214
                     /region_name="IgC1_SIRP_domain_2"
                     /note="Signal-regulatory protein (SIRP)
                     immunoglobulin-like domain 2; member of the C1-set of Ig
                     superfamily (IgSF) domains; cd05772"
                     /db_xref="CDD:409429"
     Region          116..120
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409429"
     Region          130..138
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409429"
     Site            order(138,141,164..171,173,175)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:409429"
     Site            order(142,144,167,198,203)
                     /site_type="other"
                     /note="SIRP-FabOX117 complex [polypeptide binding]"
                     /db_xref="CDD:409429"
     Region          144..150
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409429"
     Region          153..156
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409429"
     Region          159..166
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409429"
     Region          172..181
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409429"
     Region          189..197
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409429"
     Region          204..210
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409429"
     Region          217..312
                     /region_name="IgC1_SIRP_domain_3"
                     /note="Signal-regulatory protein (SIRP)
                     immunoglobulin-like domain 3; member of the C1-set of Ig
                     superfamily (IgSF) domains; cd16085"
                     /db_xref="CDD:409507"
     Site            order(217..218,244..245,252..255,269..271,300..301,303)
                     /site_type="other"
                     /note="intrachain IgC domain interface [polypeptide
                     binding]"
                     /db_xref="CDD:409507"
     Region          218..226
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409507"
     Region          234..241
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409507"
     Region          247..253
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409507"
     Region          256..259
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409507"
     Region          264..270
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409507"
     Region          274..284
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409507"
     Region          293..300
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409507"
     Region          306..310
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409507"
     CDS             1..354
                     /gene="SIRPG"
                     /gene_synonym="bA77C3.1; CD172g; SIRP-B2; SIRPB2;
                     SIRPgamma"
                     /coded_by="XM_011529286.3:151..1215"
                     /db_xref="GeneID:55423"
                     /db_xref="HGNC:HGNC:15757"
                     /db_xref="MIM:605466"
ORIGIN      
        1 miqpeklllv tvgktatlhc tvtsllpvgp vlwfrgvgpg reliynqkeg hfprvttvsd
       61 ltkrnnmdfs irissitpad vgtyycvkfr kgspenvefk sgpgtemalg akpsapvvlg
      121 paarttpeht vsftceshgf sprditlkwf kngnelsdfq tnvdptgqsv aysirstarv
      181 vldpwdvrsq vicevahvtl qgdplrgtan lseairvppt levtqqpmrv gnqvnvtcqv
      241 rkfypqslql twsengnvcq retastlten kdgtynwtsw flvnisdqrd dvvltcqvkh
      301 dgqlavskrl alevtvhqkd qssdatpgpa ssltalllia vllgpiyvpw kqkt
//
LOCUS       XP_016883988            1565 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptojanin-1 isoform X7 [Homo sapiens].
ACCESSION   XP_016883988
VERSION     XP_016883988.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017028499.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1565
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..1565
                     /product="synaptojanin-1 isoform X7"
                     /calculated_mol_wt=172474
     Region          73..522
                     /region_name="COG5329"
                     /note="Phosphoinositide polyphosphatase (Sac family)
                     [Signal transduction mechanisms]"
                     /db_xref="CDD:227637"
     Region          567..902
                     /region_name="INPP5c_Synj1"
                     /note="Catalytic inositol polyphosphate 5-phosphatase
                     (INPP5c) domain of synaptojanin 1; cd09098"
                     /db_xref="CDD:197332"
     Site            order(575,577,625,702..703,723,726..727,764,766,768,
                     818..819,834,840,892..893)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:197332"
     Site            order(575,625,723,764,766,840,892..893)
                     /site_type="active"
                     /note="putative catalytic site [active]"
                     /db_xref="CDD:197332"
     Site            order(577,625,892)
                     /site_type="other"
                     /note="Mg binding site [ion binding]"
                     /db_xref="CDD:197332"
     Site            order(625,702..703,723,726..727,768,818..819,834,892)
                     /site_type="other"
                     /note="putative PI/IP binding site [chemical binding]"
                     /db_xref="CDD:197332"
     Site            order(723,766,893)
                     /site_type="other"
                     /note="putative phosphate binding site [ion binding]"
                     /db_xref="CDD:197332"
     Region          901..1042
                     /region_name="DUF1866"
                     /note="Domain of unknown function (DUF1866); pfam08952"
                     /db_xref="CDD:286093"
     Region          1085..>1454
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     CDS             1..1565
                     /gene="SYNJ1"
                     /gene_synonym="DEE53; EIEE53; INPP5G; PARK20"
                     /coded_by="XM_017028499.3:1..4698"
                     /db_xref="GeneID:8867"
                     /db_xref="HGNC:HGNC:11503"
                     /db_xref="MIM:604297"
ORIGIN      
        1 mrkrwacwsg sdapggcggg cgrrrrrsrr kraaseerrm afskgfriyh kldpppfsli
       61 vetrhkeecl mfesgavavl ssaekeaikg tyskvldayg llgvlrlnlg dtmlhylvlv
      121 tgcmsvgkiq esevfrvtst efislridss dedrisevrk vlnsgnfyfa wsasgisldl
      181 slnahrsmqe qttdnrffwn qslhlhlkhy gvncddwllr lmcggveirt iyaahkqaka
      241 clisrlscer agtrfnvrgt nddghvanfv eteqvvyldd svssfiqirg svplfweqpg
      301 lqvgshrvrm srgfeanapa fdrhfrtlkn lygkqiivnl lgskegehml skafqshlka
      361 sehaadiqmv nfdyhqmvkg gkaeklhsvl kpqvqkfldy gffyfngsev qrcqsgtvrt
      421 ncldcldrtn svqaflglem lakqlealgl aekpqlvtrf qevfrsmwsv ngdsiskiya
      481 gtgalegkak agklkdgars vtrtiqnnff dsskqeaidv lllgntlnsd ladkarallt
      541 tgslrasskv lksmcenfyk yskpkkirvc vgtwnvnggk qfrsiafknq tltdwlldap
      601 klagiqefqd krskptdifa igfeemveln agnivsastt nqklwavelq ktisrdnkyv
      661 llaseqlvgv clfvfirpqh apfirdvavd tvktgmggat gnkgavairm lfhttslcfv
      721 cshfaagqsq vkernedfie iarklsfpmg rmlfshdyvf wcgdfnyrid lpneevkeli
      781 rqqnwdslia gdqlinqkna gqvfrgfleg kvtfaptyky dlfsddydts ekcrtpawtd
      841 rvlwrrrkwp fdrsaedldl lnasfqdesk ilytwtpgtl lhygraelkt sdhrpvvali
      901 didifeveae erqniykevi avqgppdgtv lvsiksslpe nnffddalid ellqqfasfg
      961 evilirfved kmwvtflegs salnvlslng kellnrtiti alkspdwikn leeemsleki
     1021 sialpsstss tllgedaeva adfdmegdvd dysaeveell pqhlqpssss glgtspsssp
     1081 rtspcqspti segpvpslpi rpsrapsrtp gppsaqsspi daqpatplpq kdpaqplepk
     1141 rpppprpvap ptrpappqrp pppsgrsqps pqaglagpgp agystarpti ppragvisap
     1201 qsharasagr ltpesqskts etskgstflp eplkpqaafp pqsslpppaq rlqeplvpva
     1261 apmpqsgpqp nletppqppp rsrsshslps eassqpqvkt ngisdgkres plkidpfedl
     1321 sfnllavska qlsvqtspvp tpdpkrliql psatqsnvls svscmptmpp iparsqsqen
     1381 mrsspnpfit gltrtnpfsd rtaapgnpfr akseeseats wfskeepvti spfpslqplg
     1441 hnksrasssl dgfkdsfdlq gqstlkisnp kgwvtfeeee dfgvkgksks acsdllgnqp
     1501 ssfsgsnltl nddwnkgtnv sfcvlpsrrp ppppvpllpp gtsppvdpft tlaskasptl
     1561 dfter
//
LOCUS       XP_006724323             537 aa            linear   PRI 20-MAR-2023
DEFINITION  eukaryotic translation initiation factor 3 subunit L isoform X1
            [Homo sapiens].
ACCESSION   XP_006724323
VERSION     XP_006724323.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006724260.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_006724323.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..537
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..537
                     /product="eukaryotic translation initiation factor 3
                     subunit L isoform X1"
                     /calculated_mol_wt=63277
     Region          152..525
                     /region_name="Paf67"
                     /note="RNA polymerase I-associated factor PAF67;
                     pfam10255"
                     /db_xref="CDD:431175"
     CDS             1..537
                     /gene="EIF3L"
                     /gene_synonym="EIF3EIP; EIF3S11; EIF3S6IP; HSPC021;
                     HSPC025; MSTP005"
                     /coded_by="XM_006724260.5:32..1645"
                     /db_xref="GeneID:51386"
                     /db_xref="HGNC:HGNC:18138"
                     /db_xref="MIM:619197"
ORIGIN      
        1 msypaddyes eaaydpyayp sdydmhtgdp kqdlayerqy eqqtyqvipe viknfiqyfh
       61 ktvsdlidqk vyelqasrvs sdvidqkvye iqdiyenswt klterffknt pwpeaeaiap
      121 qvgndavfli lykelyyrhi yakvsggpsl eqrfesyyny cnlfnyilna dgpaplelpn
      181 qwlwdiidef iyqfqsfsqy rcktakksee eidflrsnpk iwnvhsvlnv lhslvdksni
      241 nrqlevytsg gdpesvagey grhslykmlg yfslvgllrl hsllgdyyqa ikvlenieln
      301 kksmysrvpe cqvttyyyvg faylmmrryq dairvfanil lyiqrtksmf qrttykyemi
      361 nkqneqmhal laialtmypm ridesihlql rekygdkmlr mqkgdpqvye elfsyscpkf
      421 lspvvpnydn vhpnyhkepf lqqlkvfsde vqqqaqlsti rsflklyttm pvaklagfld
      481 lteqefriql lvfkhkmknl vwtsgisald gefqsasevd fyidklnrtl kkmgqrp
//
LOCUS       XP_016861412            1704 aa            linear   PRI 20-MAR-2023
DEFINITION  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1
            isoform X2 [Homo sapiens].
ACCESSION   XP_016861412
VERSION     XP_016861412.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017005923.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1704
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1704
                     /product="1-phosphatidylinositol 4,5-bisphosphate
                     phosphodiesterase eta-1 isoform X2"
                     /calculated_mol_wt=190728
     Region          34..140
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          158..298
                     /region_name="EFh_PI-PLCeta1"
                     /note="EF-hand motif found in phosphoinositide
                     phospholipase C eta 1 (PI-PLC-eta1); cd16220"
                     /db_xref="CDD:320050"
     Region          158..187
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320050"
     Region          194..224
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320050"
     Region          228..256
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320050"
     Region          265..298
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320050"
     Region          285..853
                     /region_name="PLN02230"
                     /note="phosphoinositide phospholipase C 4"
                     /db_xref="CDD:177875"
     Region          310..713
                     /region_name="PI-PLCc_eta1"
                     /note="Catalytic domain of metazoan
                     phosphoinositide-specific phospholipase C-eta1; cd08632"
                     /db_xref="CDD:176569"
     Site            order(326..327,356,358,371,405,454,456,639,666,668)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:176569"
     Site            order(326,371)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:176569"
     Site            order(327,356,358,405)
                     /site_type="other"
                     /note="putative Ca binding site [ion binding]"
                     /db_xref="CDD:176569"
     CDS             1..1704
                     /gene="PLCH1"
                     /gene_synonym="HPE14; PLC eta 1; PLC-L3; PLCL3"
                     /coded_by="XM_017005923.2:273..5387"
                     /db_xref="GeneID:23007"
                     /db_xref="HGNC:HGNC:29185"
                     /db_xref="MIM:612835"
ORIGIN      
        1 msywnlekrn cvqyrrhflv dnsvfhverc msvmqsgtqm iklkrgtkgl vrlfyldehr
       61 trlrwrpsrk sekakilids iykvtegrqs eifhrqaegn fdpsccftiy hgnhmesldl
      121 itsnpeeart witglkylma gisdedslak rqrthdqwvk qtfeeadkng dgllnieeih
      181 qlmhklnvnl prrkvrqmfq eadtdenqgt ltfeefcvfy kmmslrrdly llllsysdkk
      241 dhltveelaq flkveqkmnn vttdycldii kkfevseenk vknvlgiegf tnfmrspacd
      301 ifnplhhevy qdmdqplcny yiasshntyl tgdqllsqsk vdmyarvlqe gcrcvevdcw
      361 dgpdgepvvh hgytltskil frdvvetink hafvknefpv ilsienhcsi qqqrkiaqyl
      421 kgifgdkldl ssvdtgeckq lpspqslkgk ilvkgkklpy hlgddaeege vsdedsadei
      481 edeckfklhy sngttehqve sfirkklesl lkesqirdke dpdsftvral lkatheglna
      541 hlkqspdvke sgkkshgrsl mtnfgkhkkt tksrsksyst ddeedtqqst gkeggqlyrl
      601 grrrktmklc relsdlvvyt nsvaaqdivd dgttgnvlsf setrahqvvq qkseqfmiyn
      661 qkqltriyps ayridssnfn plpywnagcq lvalnyqseg rmmqlnrakf kangncgyvl
      721 kpqqmckgtf npfsgdplpa npkkqlilkv isgqqlpkpp dsmfgdrgei idpfveveii
      781 glpvdcckdq trvvddngfn pvweetltft vhmpeialvr flvwdhdpig rdfvgqrtvt
      841 fsslvpgyrh vyleglteas ifvhitinei ygkwspliln psytilhflg atknrqlqgl
      901 kglfnknprh sssennshyv rkrsigdril rrtasapakg rkkskmgfqe mveikdsvse
      961 atrdqdgvlr rttrslqarp vsmpvdrnll galslpvset akdiegkens ledkdgrrkg
     1021 kasikdphfl nfnkklssss sallhkdtsq gdtivstahm svtgeqlgms sprggrttsn
     1081 atsncqenpc pskslspkqh lapdpvvnpt qdlhgvkike kgnpedfveg ksilsgsvls
     1141 hsnleiknle gnrgkgraat sfslsdvsml csdipdlhst ailqesvish lidnvtltne
     1201 nepgssisal igqfdetnnq altvvshlhn tsvmsghcpl pslglkmpik hgfckgksks
     1261 sflcsspeli alsssettkh atntvyettc tpisktkpdd dlsskaktaa lesnlpgspn
     1321 tsrgwlpksp tkgedwetlk scspasspdl tledviadpt lcfnsgessl veidgesenl
     1381 slttceyrre gtsqlasplk lkynqgvveh fqrglrngyc ketlrpsvpe ifnniqdvkt
     1441 qsisylayqg agfvhnhfsd sdakmfqtcv pqqssaqdmh vpvpkqlahl plpalklpsp
     1501 ckskslgdlt sediacnfes kyqcisksfv ttgirdkkgv tvktkslepi dalteqlrkl
     1561 vsfdqedncq vlyskqdanq lpralvrkls srsqsrvrni asrakekqea nkqkvpnpsn
     1621 gagvvlrnkp saptpavnrh stgsyiagyl kntkgggleg rgipegacta lhyghvdqfc
     1681 sdnsvlqtep ssddkpeiyf llrl
//
LOCUS       XP_047305028             692 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-17 receptor C isoform X28 [Homo sapiens].
ACCESSION   XP_047305028
VERSION     XP_047305028.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449072.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..692
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..692
                     /product="interleukin-17 receptor C isoform X28"
                     /calculated_mol_wt=75273
     Region          71..431
                     /region_name="IL17_R_N"
                     /note="Interleukin-17 receptor extracellular region;
                     pfam15037"
                     /db_xref="CDD:434410"
     Region          491..638
                     /region_name="SEFIR"
                     /note="SEFIR domain; pfam08357"
                     /db_xref="CDD:254756"
     CDS             1..692
                     /gene="IL17RC"
                     /gene_synonym="CANDF9; IL17-RL; IL17RL"
                     /coded_by="XM_047449072.1:219..2297"
                     /db_xref="GeneID:84818"
                     /db_xref="HGNC:HGNC:18358"
                     /db_xref="MIM:610925"
ORIGIN      
        1 mpvpwfllsl algrspvvls lerlvgpqda thcspglscr lwdsdilclp gdivpapgpv
       61 lapthlqtel vlrcqketdc dlclrvavhl avhghweepe deekfggaad sgveeprnas
      121 lqaqvvlsfq ayptarcvll evqvpaalvq fgqsvgsvvy dcfeaalgse vriwsytqpr
      181 yekelnhtqq lpalpwlnvs adgdnvhlvl nvseeqhfgl slywnqtgpq iitlnhtdlv
      241 pclciqvwpl epdsvrtnic pfredprahq nlwqaarlql ltlqswllda pcslpaeaal
      301 cwrapggdpc qplvpplswe nvtvdkvlef pllkghpnlc vqvnsseklq lqeclwadsl
      361 gplkddvlll etrgpqdnrs lcalepsgct slpskastra arlgeyllqd lqsgqclqlw
      421 dddlgalwac pmdkyihkrw alvwlacllf aaalslilll kkdhakgwlr llkqdvrsga
      481 aargraalll ysaddsgfer lvgalasalc qlplrvavdl wsrrelsaqg pvawfhaqrr
      541 qtlqeggvvv llfspgaval csewlqdgvs gpgahgphda fraslscvlp dflqgrapgs
      601 yvgacfdrll hpdavpalfr tvpvftlpsq lpdflgalqq praprsgrlq eraeqvsral
      661 qpaldsyfhp pgtpapgrgv gpgagpgagd gt
//
LOCUS       XP_047273154             465 aa            linear   PRI 20-MAR-2023
DEFINITION  myocyte-specific enhancer factor 2C isoform X3 [Homo sapiens].
ACCESSION   XP_047273154
VERSION     XP_047273154.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417198.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..465
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..465
                     /product="myocyte-specific enhancer factor 2C isoform X3"
                     /calculated_mol_wt=50205
     Region          2..78
                     /region_name="MADS_MEF2_like"
                     /note="MEF2 (myocyte enhancer factor 2)-like/Type II
                     subfamily of MADS (MCM1, Agamous, Deficiens, and SRF
                     (serum response factor) box family of eukaryotic
                     transcriptional regulators. Binds DNA and exists as hetero
                     and homo-dimers. Differs from SRF-like/Type I...; cd00265"
                     /db_xref="CDD:238165"
     Site            order(2..4,6,8,13,15,19..20,23..24,26..27,30..31,33..34,
                     38)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238165"
     Site            order(21,28..29,32..33,35..36,39,44,46,48,54,56,62,65..66,
                     69,72..73)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238165"
     Site            59
                     /site_type="other"
                     /note="putative phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:238165"
     Region          <107..155
                     /region_name="HJURP_C"
                     /note="Holliday junction regulator protein family
                     C-terminal repeat; pfam12347"
                     /db_xref="CDD:432495"
     CDS             1..465
                     /gene="MEF2C"
                     /gene_synonym="C5DELq14.3; DEL5q14.3; NEDHSIL"
                     /coded_by="XM_047417198.1:175..1572"
                     /db_xref="GeneID:4208"
                     /db_xref="HGNC:HGNC:6996"
                     /db_xref="MIM:600662"
ORIGIN      
        1 mgrkkiqitr imdernrqvt ftkrkfglmk kayelsvlcd ceialiifns tnklfqyast
       61 dmdkvllkyt eynephesrt nsdivetlrk kglngcdspd pdaddsvghs pesedkyrki
      121 nedidlmisr qrlcavpppn fempvsipvs shnslvysnp vsslgnpnll plahpslqrn
      181 smspgvthrp psagntgglm ggdltsgagt sagngygnpr nspgllvspg nlnknmqaks
      241 pppmnlgmnn rkpdlrvlip pgskntmpsv nqrinnsqsa qslatpvvsv atptlpgqgm
      301 ggypsaistt ygteyslssa dlsslsgfnt asalhlgsvt gwqqqhlhnm ppsalsqlga
      361 ctsthlsqss nlslpstqsl niksepvspp rdrtttpsry pqhtrheagr spvdslsscs
      421 ssydgsdred hrnefhspig ltrpspdere spsvkrmrls egwat
//
LOCUS       XP_011533724             321 aa            linear   PRI 20-MAR-2023
DEFINITION  monocarboxylate transporter 10 isoform X2 [Homo sapiens].
ACCESSION   XP_011533724
VERSION     XP_011533724.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011535422.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..321
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..321
                     /product="monocarboxylate transporter 10 isoform X2"
                     /calculated_mol_wt=34066
     Region          70..>316
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     CDS             1..321
                     /gene="SLC16A10"
                     /gene_synonym="MCT10; PRO0813; TAT1"
                     /coded_by="XM_011535422.3:251..1216"
                     /db_xref="GeneID:117247"
                     /db_xref="HGNC:HGNC:17027"
                     /db_xref="MIM:607550"
ORIGIN      
        1 mvlsqeepds argtseaqpl gpaptgaapp pgpgpsdspe aavekvevel agpataephe
       61 ppeppeggwg wlvmlaamwc ngsvfgiqna cgvlfvsmle tfgskdddkm vfktawvgsl
      121 smgmiffccp ivsvftdlfg crktavvgaa vgfvglmsss fvssieplyl tygiifacgc
      181 sfayqpslvi lghyfkkrlg lvngivtags svftillpll lrvlidsvgl fytlrvlcif
      241 mfvlflagft yrplatstkd kesggsgssl fsrkkfsppk kifnfaifkv tayavwavgi
      301 plalfgyfvp yvhlistsaa i
//
LOCUS       XP_047275813             622 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase DTX2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047275813
VERSION     XP_047275813.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419857.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 5% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..622
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..622
                     /product="probable E3 ubiquitin-protein ligase DTX2
                     isoform X1"
                     /calculated_mol_wt=67115
     Region          21..105
                     /region_name="WWE"
                     /note="Domain in Deltex and TRIP12 homologues. Possibly
                     involved in regulation of ubiquitin-mediated proteolysis;
                     smart00678"
                     /db_xref="CDD:128922"
     Region          110..181
                     /region_name="WWE"
                     /note="Domain in Deltex and TRIP12 homologues. Possibly
                     involved in regulation of ubiquitin-mediated proteolysis;
                     smart00678"
                     /db_xref="CDD:128922"
     Region          <166..394
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          411..482
                     /region_name="RING-H2_DTX2"
                     /note="RING finger, H2 subclass, found in E3
                     ubiquitin-protein ligase Deltex2 (DTX2) and similar
                     proteins; cd16672"
                     /db_xref="CDD:438334"
     Site            order(412,415,445,447,450,453,469,472)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:438334"
     Region          480..614
                     /region_name="DTC"
                     /note="Deltex C-terminal domain; pfam18102"
                     /db_xref="CDD:436275"
     Site            order(489..493,495,507,509,511..513,534..536,538,572,
                     585..586,594)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:193607"
     CDS             1..622
                     /gene="DTX2"
                     /gene_synonym="RNF58"
                     /coded_by="XM_047419857.1:571..2439"
                     /db_xref="GeneID:113878"
                     /db_xref="HGNC:HGNC:15973"
                     /db_xref="MIM:613141"
ORIGIN      
        1 mamapspslv qvytspaava vwewqdglgt whpysatvcs fieqqfvqqk gqrfglgsla
       61 hsiplgqadp slapyiidlp swtqfrqdtg tmravrrhlf pqhsapgrgv vwewlsddgs
      121 wtayeasvcd yleqqvargn qlvdlaplgy nytvnyttht qtnktssfcr svrrqagppy
      181 pvttiiappg htgvacschq clsgsrtgpv sgryrhsmtn lpaypvpqhp phrtasvfgt
      241 hqafapynkp slsgarsapr lnttnawgaa ppslgsqply rsslshlgpq hlppgsstsg
      301 avsaslpsgp ssspgsvpat vpmqmpkpsr vqqalagmts vlmsaiglpv clsrapqpts
      361 ppasrlasks hgsvkrlrkm svkgatpkpe pepeqvikny teelkvppde dciicmekls
      421 tasgysdvtd skaigslavg hltkcshafh llcllamycn gnkdgslqcp scktiygekt
      481 gtqpqgkmev lrfqmslpgh edcgtilivy siphgiqgpe hpnpgkpfta rgfprqcylp
      541 dnaqgrkvle llkvawkrrl iftvgtsstt getdtvvwne ihhktemdrn itghgypdpn
      601 ylqnvlaela aqgvtedcle qq
//
LOCUS       XP_047277535             595 aa            linear   PRI 20-MAR-2023
DEFINITION  poly(U)-binding-splicing factor PUF60 isoform X2 [Homo sapiens].
ACCESSION   XP_047277535
VERSION     XP_047277535.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421579.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..595
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..595
                     /product="poly(U)-binding-splicing factor PUF60 isoform
                     X2"
                     /calculated_mol_wt=63802
     Region          43..595
                     /region_name="half-pint"
                     /note="poly-U binding splicing factor, half-pint family;
                     TIGR01645"
                     /db_xref="CDD:130706"
     CDS             1..595
                     /gene="PUF60"
                     /gene_synonym="FIR; RoBPI; SIAHBP1; VRJS"
                     /coded_by="XM_047421579.1:1797..3584"
                     /db_xref="GeneID:22827"
                     /db_xref="HGNC:HGNC:17042"
                     /db_xref="MIM:604819"
ORIGIN      
        1 meqlnladsg lvgkearrcr rasppmgmps awwlqneagc lfaarvngqq gggsepaaaa
       61 avvaagdkwk ppqgtdsikm engqstaakl glppltpeqq ealqkakkya meqsiksvlv
      121 kqtiahqqqq ltnlqmaavt mgfgdplspl qsmaaqrqra laimcrvyvg siyyelgedt
      181 irqafapfgp iksidmswds vtmkhkgfaf veyevpeaaq laleqmnsvm lggrnikvgr
      241 psnigqaqpi idqlaeeara fnriyvasvh qdlsdddiks vfeafgkiks ctlardpttg
      301 khkgygfiey ekaqssqdav ssmnlfdlgg qylrvgkavt ppmplltpat pgglppaaav
      361 aaaaatakit aqeavagaav lgtlgtpglv spaltlaqpl gtlpqavmaa qapgvitgvt
      421 parppipvti psvgvvnpil aspptlglle pkkekeeeel fpeserpeml seqehmsisg
      481 ssarhmvmqk llrkqestvm vlrnmvdpkd idddlegevt eecgkfgavn rviiyqekqg
      541 eeedaeiivk ifvefsiase thkaiqalng rwfagrkvva evydqerfdn sdlsa
//
LOCUS       XP_011517271             771 aa            linear   PRI 20-MAR-2023
DEFINITION  transducin-like enhancer protein 4 isoform X23 [Homo sapiens].
ACCESSION   XP_011517271
VERSION     XP_011517271.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011518969.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..771
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..771
                     /product="transducin-like enhancer protein 4 isoform X23"
                     /calculated_mol_wt=84256
     Region          24..180
                     /region_name="TLE_N"
                     /note="Groucho/TLE N-terminal Q-rich domain; pfam03920"
                     /db_xref="CDD:427589"
     Region          484..768
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(484,502,511..512,528..529,548,552,558..559,573..574,
                     591,596,602..603,616,633,638,644..645,654..655,675,679,
                     685..686,697..698,715,720,726..727,738..739,757,761,
                     767..768)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          488..527
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          535..573
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          578..614
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          621..656
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          661..694
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          702..736
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          743..767
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..771
                     /gene="TLE4"
                     /gene_synonym="BCE-1; BCE1; E(spI); E(spl); ESG; ESG4;
                     Grg-4; GRG4"
                     /coded_by="XM_011518969.2:827..3142"
                     /db_xref="GeneID:7091"
                     /db_xref="HGNC:HGNC:11840"
                     /db_xref="MIM:605132"
ORIGIN      
        1 mirdlskmyp qtrhpaphqp aqpfkftise scdrikeefq flqaqyhslk leceklasek
       61 temqrhyvmy yemsyglnie mhkqaeivkr lnaicaqvip flsqehqqqv vqaverakqv
      121 tmaelnaiig ekknksdtpg slksnigrhv gveenkpnle rrkkgplffs eqqqlqaqhl
      181 shghglpvpl tphpsglqpp aippigssag llalssalgg qshlpikdek khhdndhqrd
      241 rdsiksssvs psasfrgaek hrnsadysse skkqkteeke iaarynekst tpvsksntpt
      301 prtdaptpgs nstpglrpvp gkppgvdpla sslrtpmavp cpyptpfgiv phagmngelt
      361 spgaayaglh nispqmsaaa aaaaaaaayg rspvvgfdph hhmrvpaipp nltgipggkp
      421 tkcfyhlraf pgnelemelp rdthraysfh vsadgqmqpv pfppdaligp giprharqin
      481 tlnhgevvca vtisnptrhv ytggkgcvkv wdishpgnks pvsqldclnr dnyirscrll
      541 pdgrtlivgg eastlsiwdl aaptprikae ltssapacya laispdskvc fsccsdgnia
      601 vwdlhnqtlv rqfqghtdga scidisndgt klwtggldnt vrswdlregr qlqqhdftsq
      661 ifslgycptg ewlavgmens nvevlhvtkp dkyqlhlhes cvlslkfahc gkwfvstgkd
      721 nllnawrtpy gasifqskes ssvlscdisv ddkyivtgsg dkkatvyevi y
//
LOCUS       XP_054184993            2588 aa            linear   PRI 20-MAR-2023
DEFINITION  protein unc-79 homolog isoform X25 [Homo sapiens].
ACCESSION   XP_054184993
VERSION     XP_054184993.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329018.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187601.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2588
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12-32.13"
     Protein         1..2588
                     /product="protein unc-79 homolog isoform X25"
                     /calculated_mol_wt=289918
     CDS             1..2588
                     /gene="UNC79"
                     /gene_synonym="KIAA1409"
                     /coded_by="XM_054329018.1:3540..11306"
                     /db_xref="GeneID:57578"
                     /db_xref="HGNC:HGNC:19966"
                     /db_xref="MIM:616884"
ORIGIN      
        1 mdsvensvee etretliima pwdlqrgmtr tgsfttarsk vrsgmwtmlv tpvaskiryl
       61 qeyhnrvlhn iypvpsgtdi antlkyfsqt llsvlrdaps ergpqsrdaq lsdypsldyq
      121 glyvtlvtll dlvpllqhgq hdlgqsifyt ttcllpflnd dilstlpytm istlatfppf
      181 lhkdiieyls tsflpmailg ssrregvpah vnlsassmlm iamqytsnpv yhcqlleclm
      241 kykqevwkdl lyviaygpsq vkppavqmlf hywpnlkppg aiseyrglqy tawnpihcqh
      301 iechnainkp avkmcidpsl svalgdkppp lylceecser iagdhsewli dvllpqaeis
      361 aicqkkncss hvrravvtcf sagccgrhgn rpvryckrch snhhsnevga aaethlyqts
      421 pppintrecg aeelvcavea visllkeaef haeqreheln rrrqlglsss hhsldnadfd
      481 nkdddkhdqr llsqfgiwfl vslctpsent pteslarlva mvfqwfhsta ymmddevgsl
      541 veklkpqfvt kwlktvcdvr fdvmvmcllp kpmefarvgg ywdkscstvt qlkeglnril
      601 clipynvinq svwecimpew leairtevpd nqlkefrevl skmfdielcp lpfsmeemfg
      661 fiscrftgyp ssvqeqallw lhvlseldim vplqllismf sdgvnsvkel anqrksrvse
      721 lagnlasrrv svasdpgrrv qhnmlspfhs pfqspfrspl rspfrspfkn fghpggrtid
      781 fdceddemnl ncfilmfdll lkqmelqddg itmglehsls kdiisiinnv fqapwggsht
      841 cqkdekaiec nlcqssilcy qlacellerl apkeesrlve ptdsledsll ssrpefiigp
      901 egeeeenpas khgenpgnct epvehaavkn dterkfcyqq lpvtlrliyt ifqemakfee
      961 pdilfnmlnc lkilclhgec lyiarkdhpq flayiqdhml iaslwrvvks efsqlsslav
     1021 plllhalslp hgadifwtii ngnfnskdwk mrfeavekva vicrfldihs vtknhllkys
     1081 lahafccflt avedvnpava tragllldti krpalqglcl cldfqfdtvv kdrptilskl
     1141 lllhflkqdi palsweffvn rfetlsleaq lhldcnkefp fpttitavrt nvanlsdaal
     1201 wkikrarfar nrqksvrslr dsvkgpvesk ralslpetlt skirqqspen dntikdllpe
     1261 dagidhqtvh qlitvlmkfm akdessaesd issakafntv krhlyvllgy dqqegcfmia
     1321 pqkmrlstcf nafiagiaqv mdyninlgkh llplvvqvlk ycscpqlrhy fqqpprcslw
     1381 slkphirqmw lkallvilyk ypyrdcdisk illhlihitv ntlnaqyhsc kphatagply
     1441 sdnsnisrys ekekgeiela eyretgalqd sllhcvrees ipkkklrsfk qksldignad
     1501 sllftldehr rkscidrcdi ekpptqaayi aqrpndpgrs rqnsatrpdn seipenpame
     1561 gfpdarrpvi pevrlncmet fevkvdspvk papkedldli dlssdstsgp ekhsilstsd
     1621 sdslvfeplp plrivesdee eetmnqgddg psgknaassp svpshpsvls lstaplvqvs
     1681 vedcskdfss kdsgnnqsag ntdsalitle dpmdaegssk peelpefscg spltlkqkrd
     1741 llqksfalpe mslddhpdpg tegekpgelm pssgaktvll kvpedaenpt esekpdtsae
     1801 sdteqnperk veedgaeese fkiqivprqr kqrkiavsai qreyldisfn ildklgeqkd
     1861 pdpstkglst lempresssa ptldagvpet sshssiskqi qpgkrqcnvp tclnpdlegq
     1921 plrmrgatks sllsapsivs mfvpapeeft deqptvmtdk chdcgailee ydeetlglai
     1981 vvlstfihls pdlaapllld imqsvgrlas sttfsnqaes mmvpgnaagv akqflrcifh
     2041 qlapngifpq lfqstikdgt flrtlasslm dfnelssiaa lsqlleglnn kknlpaggam
     2101 ircleniatf mealpmdsps slwttisnqf qtffaklpcv lplkcsldss lrimicllki
     2161 pstnatrsll epfskllsfv iqnavftlay lvelcglcyr aftkerdkfy lsrsvvlell
     2221 qalklksplp dtnllllvqf icadagtkla estilskqmi asvpgcgtaa mecvrqyine
     2281 vldfmadmht ltklkshmkt csqplhedtf gghlkvglaq iaamdisrgn hrdnkaviry
     2341 lpwlyhppsa mqqgpkefie cvshirllsw lllgslthna vcpnasspcl pipldagshv
     2401 adhlivilig fpeqsktsvl hmcslfhafi faqlwtvyce qsavatnlqn qnefsftail
     2461 talefwsrvt psilqlmahn kvmvemvclh vislmealqe cnstifvkli pmwlpmiqsn
     2521 ikhlsaglql rlqaiqnhvn hhslrtlpgs gqssaglaal rkwlqctqfk maqveiqsse
     2581 aasqfypl
//
LOCUS       XP_054186183             107 aa            linear   PRI 20-MAR-2023
DEFINITION  essential MCU regulator, mitochondrial isoform X1 [Homo sapiens].
ACCESSION   XP_054186183
VERSION     XP_054186183.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330208.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_004504305.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..107
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     Protein         1..107
                     /product="essential MCU regulator, mitochondrial isoform
                     X1"
                     /calculated_mol_wt=11310
     CDS             1..107
                     /gene="SMDT1"
                     /gene_synonym="C22orf32; DDDD; EMRE"
                     /coded_by="XM_054330208.1:70..393"
                     /db_xref="GeneID:91689"
                     /db_xref="HGNC:HGNC:25055"
                     /db_xref="MIM:615588"
ORIGIN      
        1 masgaarwlv lapvrsgalr sgpslrkdgd vsaawsgsgr slvpsrsviv trsgailpkp
       61 vkmsfgllrv fsivipflyv gtlisknfaa lleehdifvp edddddd
//
LOCUS       XP_054186547             674 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 311 isoform X5 [Homo sapiens].
ACCESSION   XP_054186547
VERSION     XP_054186547.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330572.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167246.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..674
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..674
                     /product="zinc finger protein 311 isoform X5"
                     /calculated_mol_wt=77138
     CDS             1..674
                     /gene="ZNF311"
                     /gene_synonym="zf31"
                     /coded_by="XM_054330572.1:408..2432"
                     /db_xref="GeneID:282890"
                     /db_xref="HGNC:HGNC:13847"
ORIGIN      
        1 mqevvlldes sgppsqllwt rqdtqlpqes allpapypaf tkdgsqgnlp qaditlmsqa
       61 qdsrsilfqe svtfedvavn ftnrewqclt yaqrhlykdv mlenygnmvs lgfpfpkppl
      121 ishlerevdp cvqdpqdres lscsypvsad kmwpenekas sqqeifenge aywmkfnsll
      181 kvdsrdpkvr evcvqdvkle nqwetsirek lreekegsee vtckkgknqk vlsknlnpns
      241 khsqcnkvli aqklhecarc gknfswhsdl ilheqihsge kphvcnecgk afktrnqlsm
      301 hriihtgekp fnctqcgkaf nsrsalcrhk kthsgekphe crdcgkafkt rnrlcmhqli
      361 htgekpykcn ccgkafqfkh sltihgriht gekpyeceec gkafsgssdl tkhirihtge
      421 rpyecskcgr afsrssdlsk hkrihtrekh ygcpqcgkdf sikaeltkhr rihteekryr
      481 ceecgkafrh nckrrahere htgekpyqcr dcgktfqdkh cltihqriht gekpykclec
      541 gkafsgksnl tnhrrihtge kphkcevcgm afhhssvlrq hkrihtgekp ytcsecgtsf
      601 rqgsalighk rvhtgekpye ceecgkafrv ssnltghkkr khqvwsthel dgsrkslspv
      661 tvsqtsvvsi ltsa
//
LOCUS       XP_054187510             240 aa            linear   PRI 20-MAR-2023
DEFINITION  natural cytotoxicity triggering receptor 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054187510
VERSION     XP_054187510.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331535.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571060.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..240
                     /product="natural cytotoxicity triggering receptor 1
                     isoform X1"
                     /calculated_mol_wt=26796
     CDS             1..240
                     /gene="NCR1"
                     /gene_synonym="CD335; LY94; NK-p46; NKP46"
                     /coded_by="XM_054331535.1:41..763"
                     /db_xref="GeneID:9437"
                     /db_xref="HGNC:HGNC:6731"
                     /db_xref="MIM:604530"
ORIGIN      
        1 msstlpallc vglclsqris aqqqtlpkpf iwaephfmvp kekqvticcq gnygaveyql
       61 hfegslfavd rpkpperink vkfyipdmns rmagqysciy rvgelwseps nlldlvvtem
      121 ydtptlsvhp gpevisgekv tfycrldtat smflllkegr sshvqrgygk vqaefplgpv
      181 ttahrgtyrc fgsynnhaws fpsepvkllv tgdientsla pedptfpans trelhvhvep
//
LOCUS       XP_054189759             871 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/arginine repetitive matrix protein 1 isoform X16 [Homo
            sapiens].
ACCESSION   XP_054189759
VERSION     XP_054189759.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054333784.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..871
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..871
                     /product="serine/arginine repetitive matrix protein 1
                     isoform X16"
                     /calculated_mol_wt=98172
     CDS             1..871
                     /gene="SRRM1"
                     /gene_synonym="160-KD; POP101; SRM160"
                     /coded_by="XM_054333784.1:26..2641"
                     /db_xref="GeneID:10250"
                     /db_xref="HGNC:HGNC:16638"
                     /db_xref="MIM:605975"
ORIGIN      
        1 mdagffrgts aeqdnrfsnk qkkllkqlkf aeclekkvdm skvnlevikp witkrvteil
       61 gfeddvvief ifnqlevknp dskmmqinlt gflngknare fmgelwplll saqeniagip
      121 saflelkkee ikqrqieqek lasmkkqded kdkrdkeeke ssrekrersr sprrtksrsp
      181 spapekkekt pelpepsvkv kepsvqeats tsdilkvpkp epipepkeps peknskkeke
      241 kektrprsrs rsksrsrtrs rspshtrprr rhrsrsrsys prrrpsprrr psprrrtppr
      301 rmpppprhrr srspvrrrrr ssaslsgsss sssssrsrsp pkkppkrtss pprktrrlsp
      361 saspprrrhr psppatpppk trhsptpqqs nrtrksrvsv spgrtsvtkh kgtekresps
      421 papkprkvel sesedkggkm aaadsvqqrr qyrrqnqqss sdsgssssse derpkrshvk
      481 ngevgrrrrh spsrsaspsp rkrqketspr grrrrspspp ptrrrrspsp appprrrrtp
      541 tppprrrtps ppprrrspsp rrysppiqrr yspspppkrr taspppppkr raspspppkr
      601 rvshspppkq rsspvtkrrs pslsskhrkg sspsrstrea rspqpnkrhs psprprapqt
      661 ssspppvrrg assspqrrqs pspstrpirr vsrtpepkki kkaaspspqs vrrvsssrsv
      721 sgspepaakk ppappspvqs qspstnwspa vpvkkakspt pspspprnsd qegggkkkkk
      781 kkdkkhkkdk khkkhkkhkk ekavaaaaaa avtpaaiaaa tttlaqeepv aapepkkete
      841 seaednlddl ekhlrekalr smrkaqvspq s
//
LOCUS       XP_054191543            5212 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase UBR4 isoform X11 [Homo sapiens].
ACCESSION   XP_054191543
VERSION     XP_054191543.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335568.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5212
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..5212
                     /product="E3 ubiquitin-protein ligase UBR4 isoform X11"
                     /calculated_mol_wt=576769
     CDS             1..5212
                     /gene="UBR4"
                     /gene_synonym="p600; RBAF600; ZUBR1"
                     /coded_by="XM_054335568.1:19..15657"
                     /db_xref="GeneID:23352"
                     /db_xref="HGNC:HGNC:30313"
                     /db_xref="MIM:609890"
ORIGIN      
        1 matsggeeaa aaapapgtpa tgadttpgwe vavrpllsas ysafemkelp qlvasviese
       61 seilhhekqy epfyssfval sthyittvcs liprnqlqsv aaackvlief sllrlenpde
      121 acavsqkhli llikglctgc srldrteiit ftammksakl pqtvktlsdv edqkelaspv
      181 spelrqkevq mnflnqltsv fnprtvasqp istqtlvege ndeqsstdqa saiktknvfi
      241 aqnvaslqel ggsekllrvc lnlpyflryi nrfqdavlan sffimpatva datavrngfh
      301 slvidvtmal dtlslpvlep lnpsrlqdvt vlslsclyag vsvatcmail hvgsaqqvrt
      361 gstsskeddy esdaativqk cleiydmigq aisssrragg ehyqnfqllg awcllnslfl
      421 ilnlsptala dkgkekdpla alrvrdilsr tkegvgspkl gpgkghqgfg vlsvilanha
      481 iklltslfqd lqvealhkgw etdgppaals imaqstsiqr iqrlidsvpl mnllltllst
      541 syrkacvlqr qrkgsmssda sastdsntyy eddfssteed ssqdddsepi lgqwfeetis
      601 pskekaappp ppppppless prvkspskqa pgekgnilas rkdpelflgl asnilnfits
      661 smlnsrnnfi rnylsvslse hhmatlasii kevdkdglkg ssdeefaaal yhfnhslvts
      721 dlqspnlqnt llqqlgvapf segpwplyih pqslsvlsrl lliwqhkasa qgdpdvpecl
      781 kvwdrflstm kqnalqgvvp setedlnveh lqmlllifhn ftetgrrail slfvqiiqel
      841 svnmdaqmrf vplilarlll ifdyllhqys kapvylfeqv qhnllsppfg wasgsqdsns
      901 rrattplyhg fkeveenwsk hfssdavphp rfycvlspea seddlnrlds vacdvlfskl
      961 vkydelyaal tallaagsql dtvrrkenkn vtaleacalq yyflilwril gilppsktyi
     1021 nqlsmnspem secdilhtlr wssrlrissy vnwikdhlik qgmkaehass llelasttkc
     1081 ssvkydveiv eeyfarqiss fcsidcttil qlheipslqs iytldaaisk vqvsldehfs
     1141 kmaaetdphk sseitknllp atlqlidtya sftrayllqn fneegttekp skeklqgfaa
     1201 vlaigssrck antlgptlvq nlpssvqtvc eswnnintne fpnigswrna fandtipses
     1261 yisavqaahl gtlcsqslpl aaslkhtlls lvrltgdliv wsdemnppqv irtllpllle
     1321 sstesvaeis snslerilgp aesdeflarv yeklitgcyn ilanhadpns gldesileec
     1381 lqylekqles sqarkameef fsdsgelvqi mmatanenls akfcnrvlkf ftklfqltek
     1441 spnpsllhlc gslaqlacve pvrlqawltr mttsppkdsd qldviqenrq llqllttyiv
     1501 rensqvgegv cavllgtltp matemlangd gtgfpelmvv matlasagqg aghlqlhnaa
     1561 vdwlsrckky lsqknvvekl nanvmhgkhv milectchim syladvtnal sqsngqgpsh
     1621 lsvdgeerai evdsdwveel aveeedsqae dsdedslcnk lctftitqke fmnqhwyhch
     1681 tckmvdgvgv ctvcakvchk dheisyakyg sffcdcgake dgsclalvkr tpssgmsstm
     1741 kesafqsepr iseslvrhas tsspadkakv tisdgkvade ekpkksslcr tvegcreelq
     1801 nqanfsfapl vldmlnflmd aiqtnfqqas avgsssraqq alselhtvek avemtdqlmv
     1861 ptlgsqegaf envrmnysgd qgqtirqlis ahvlrrvamc vlssphgrrq hlavshekgk
     1921 itvlqlsall kqadsskrkl tltrlasapv pftvlsltgn pckedylavc glkdchvltf
     1981 sssgsvsdhl vlhpqlatgn fiikavwlpg sqtelaivta dfvkiydlcv dalsptfyfl
     2041 lpsskirdvt flfneegkni ivimssagyi ytqlmeeass aqqgpfyvtn vleinhedlk
     2101 qdsnsqvagg gvsvyyshvl qmlffsycqg ksfaatisrt tlevlqlfpi nikssnggsk
     2161 tspalcqwse vmnhpglvcc vqqttgvplv vmvkpdtfli qeiktlpaka kiqdmvairh
     2221 tacneqqrtt millcedgsl riymanvent sywlqpslqp ssvisimkpv rkrktatitt
     2281 rtssqvtfpi dffehnqqlt dvefggndll qvynaqqikh rlnstgmyva ntkpggftie
     2341 isnnnstmvm tgmriqigtq aierapsyie ifgrtmqlnl srsrwfdfpf treealqadk
     2401 klnlfigasv dpagvtmida vkiygktkeq fgwpdeppee fpsasvsnic psnlnqsngt
     2461 gdsdsaaptt tsgtvlerlv vsslealesc favgpiieke rnknaaqela tlllslpapa
     2521 svqqqsksll aslhtsrsay hshkdqalls kavqclntss kegkdldpev fqrlvitars
     2581 iaimrpnnlv hftesklpqm etdcffprca cwslgivgil igapletpsp egmdegkepq
     2641 kqlegdccsf itqlvnhfwk lhaskpknaf lapaclpglt hieatvnalv diihgyctce
     2701 ldcintaski ymqmllcpdp avsfsckqal irvlrprnkr rhvtlpsspr sntpmgdkdd
     2761 dddddadekm qssgipnggh irqesqeqse vdhgdfemvs esmvletaen vnngnpsple
     2821 allagaegfp pmldippdad detmvelaia lslqqdqqgs sssalglqsl glsgqapsss
     2881 sldagtlsdt tasapasdde gstaatdgst lrtspadhgg svgsesggsa vdsvagehsv
     2941 sgrssaygda taeghpagpg svssstgais tttghqegdg segegegete gdvhtsnrlh
     3001 mvrlmllerl lqtlpqlrnv ggvraipymq vilmlttdld gedekdkgal dnllsqliae
     3061 lgmdkkdvsk knersalnev hlvvmrllsv fmsrtksgsk ssicesssli ssataaalls
     3121 sgavdyclhv lkslleywks qqndeepvat sqllkphtts sppdmspffl rqyvkghaad
     3181 vfeaytqllt emvlrlpyqi kkitdtnsri pppvfdhswf yflseylmiq qtpfvrrqvr
     3241 klllficgsk ekyrqlrdlh tldshvrgik klleeqgifl rasvvtassg salqydtlis
     3301 lmehlkacae iaaqrtinwq kfcikddsvl yfllqvsflv degvspvllq llscalcgsk
     3361 vlaalaassg sssassssap vaassgqatt qsksstkksk keekekekdg etsgsqedql
     3421 ctalvnqlnk fadketliqf lrcfllesns ssvrwqahcl tlhiyrnssk sqqellldlm
     3481 wsiwpelpay grkaaqfvdl lgyfslktpq tekklkeysq kaveilrtqn hiltnhpnsn
     3541 iyntlsglve fdgyylesdp clvcnnpevp fcyiklssik vdtrytttqq vvkligshti
     3601 skvtvkigdl krtkmvrtin lyynnrtvqa ivelknkpar whkakkvqlt pgqtevkidl
     3661 plpivasnlm iefadfyeny qastetlqcp rcsasvpanp gvcgncgenv yqchkcrsin
     3721 ydekdpflcn acgfckyarf dfmlyakpcc avdpieneed rkkavsnint lldkadrvyh
     3781 qlmghrpqle nllckvneaa pekpqddsgt aggisstsas vnryilqlaq eycgdcknsf
     3841 delskiiqkv fasrkelley dlqqreaatk ssrtsvqptf tasqyralsv lgcghtsstk
     3901 cygcasavte hcitllrala tnpalrhilv sqglirelfd ynlrrgaaam reevrqlmcl
     3961 ltrdnpeatq qmndliigkv stalkghwan pdlasslqye mllltdsisk edscwelrlr
     4021 calslflmav niktpvvven itlmclrilq klikppapts kknkdvpvea lttvkpycne
     4081 ihaqaqlwlk rdpkasydaw kkclpirgid gngkapskse lrhlylteky vwrwkqflsr
     4141 rgkrtspldl klghnnwlrq vlftpatqaa rqaactivea latipsrkqq vldlltsyld
     4201 elsiagecaa eylalyqkli tsahwkvyla argvlpyvgn litkeiarll aleeatlstd
     4261 lqqgyalksl tgllssfvev esikrhfksr lvgtvlngyl clrklvvqrt klidetqdml
     4321 lemledmttg tesetkafma vcietakryn lddyrtpvfi ferlcsiiyp eenevteffv
     4381 tlekdpqqed flqgrmpgnp yssnepgigp lmrdiknkic qdcdlvalle ddsgmellvn
     4441 nkiisldlpv aevykkvwct tnegepmriv yrmrgllgda teefieslds ttdeeedeee
     4501 vykmagvmaq cgglecmlnr lagirdfkqg rhlltvllkl fsycvkvkvn rqqlvklemn
     4561 tlnvmlgtln lalvaeqesk dsggaavaeq vlsimeiild esnaeplsed kgnllltgdk
     4621 dqlvmlldqi nstfvrsnps vlqgllriip ylsfgevekm qilverfkpy cnfdkydedh
     4681 sgddkvfldc fckiaagikn nsnghqlkdl ilqkgitqna ldymkkhips aknldadiwk
     4741 kflsrpalpf ilrllrglai qhpgtqvlig tdsipnlhkl eqvssdegig tlaenlleal
     4801 rehpdvnkki daarretrae kkrmamamrq kalgtlgmtt nekgqvvtkt allkqmeeli
     4861 eepgltccic regykfqptk vlgiytftkr valeelenkp rkqqgystvs hfnivhydch
     4921 laavrlargr eewesaalqn antkcngllp vwgphvpesa fatclarhnt ylqectgqre
     4981 ptyqlnihdi kllflrfame qsfsadtggg gresnihlip yiihtvlyvl nttratsree
     5041 knlqgfleqp kekwvesafe vdgpyyftvl alhilppeqw ratrveilrr llvtsqarav
     5101 apggatrltd kavkdysayr ssllfwalvd liynmfkkvp tsnteggwsc slaeyirhnd
     5161 mpiyeaadka lktfqeefmp vetfsefldv agllseitdp esflkdllns vp
//
LOCUS       XP_054224241             449 aa            linear   PRI 20-MAR-2023
DEFINITION  cell adhesion molecule 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054224241
VERSION     XP_054224241.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368266.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..449
                     /product="cell adhesion molecule 1 isoform X3"
                     /calculated_mol_wt=49955
     CDS             1..449
                     /gene="CADM1"
                     /gene_synonym="BL2; IGSF4; IGSF4A; Necl-2; NECL2; RA175;
                     sgIGSF; ST17; sTSLC-1; SYNCAM; synCAM1; TSLC1"
                     /coded_by="XM_054368266.1:67..1416"
                     /db_xref="GeneID:23705"
                     /db_xref="HGNC:HGNC:5951"
                     /db_xref="MIM:605686"
ORIGIN      
        1 mtahkpndff krpkfrmlfs lklhlvtqqk tvqrsapiam kasghtsgdg qnlftkdvtv
       61 iegevatisc qvnksddsvi qllnpnrqti yfrdfrplkd srfqllnfss selkvsltnv
      121 sisdegryfc qlytdppqes yttitvlvpp rnlmidiqkd tavegeeiev nctamaskpa
      181 ttirwfkgnt elkgksevee wsdmytvtsq lmlkvhkedd gvpvicqveh pavtgnlqtq
      241 rylevqykpq vhiqmtyplq gltregdale ltceaigkpq pvmvtwvrvd dempqhavls
      301 gpnlfinnln ktdngtyrce asnivgkahs dymlyvydtt attepavhgl tqlpnsaeel
      361 dsedlsdsra geegsiravd haviggvvav vvfamlclli ilgryfarhk gtyftheakg
      421 addaadadta iinaeggqnn seekkeyfi
//
LOCUS       XP_054224425             281 aa            linear   PRI 20-MAR-2023
DEFINITION  post-GPI attachment to proteins factor 2 isoform X14 [Homo
            sapiens].
ACCESSION   XP_054224425
VERSION     XP_054224425.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368450.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..281
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..281
                     /product="post-GPI attachment to proteins factor 2 isoform
                     X14"
                     /calculated_mol_wt=31731
     CDS             1..281
                     /gene="PGAP2"
                     /gene_synonym="CWH43-N; FRAG1; HPMRS3; MRT17; MRT21"
                     /coded_by="XM_054368450.1:26..871"
                     /db_xref="GeneID:27315"
                     /db_xref="HGNC:HGNC:17893"
                     /db_xref="MIM:615187"
ORIGIN      
        1 marlgstggv sgrvvtqhrd sapflgaprl glrelgpirg tapewhgrwn aaerteasig
       61 vpgikmdggd aqehghflrl pqvpnylpsv ssaiggevpq ryvwrfcigl hsaprflvaf
      121 aywnhylsct spcscyrplc rlnfglnvve nlallvltyv sssedftihe nafivfiass
      181 lghmlltcil wrltkkhtvs qedrksyswk qrlfiinfis ffsalavyfr hnmyceagvy
      241 tifaileytv vltnmafhmt awwdfgnkel litsqpeekr f
//
LOCUS       XP_054233295             377 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM81A isoform X1 [Homo sapiens].
ACCESSION   XP_054233295
VERSION     XP_054233295.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377320.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..377
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..377
                     /product="protein FAM81A isoform X1"
                     /calculated_mol_wt=43224
     CDS             1..377
                     /gene="FAM81A"
                     /coded_by="XM_054377320.1:160..1293"
                     /db_xref="GeneID:145773"
                     /db_xref="HGNC:HGNC:28379"
ORIGIN      
        1 maqrstvfps rvtkerrvrt mprhsqsltm apyssvslve qledrilche kttaalveha
       61 frikddivns lqkmqnkggg drlarlflee hirnitaivk qlnrdievlq eqirardnis
      121 ygtnsalktl emrqlsglgd lrgrvarcda siarlsaehk ttyeglqhln keqqaaklil
      181 etkikdaegq isqllnrvdl siseqstklk mshrdsnhql qlldtkfkgt veelsnqils
      241 arswlqqeqe riekellqki dqlslivken sgaserdmek klsqmsarld kieegqkktf
      301 dgqrtrqeee kmhgritkle lqmnqnikem kaevnagfta vyesigslrq vleakmkldr
      361 dqlqkqiqlm qkpetpm
//
LOCUS       XP_054233453             491 aa            linear   PRI 20-MAR-2023
DEFINITION  protein PAT1 homolog 2 isoform X5 [Homo sapiens].
ACCESSION   XP_054233453
VERSION     XP_054233453.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377478.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..491
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..491
                     /product="protein PAT1 homolog 2 isoform X5"
                     /calculated_mol_wt=55462
     CDS             1..491
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; Pat1a"
                     /coded_by="XM_054377478.1:441..1916"
                     /db_xref="GeneID:197135"
                     /db_xref="HGNC:HGNC:33630"
                     /db_xref="MIM:614661"
ORIGIN      
        1 milgiqlylv lsttprelcl aplesrplvc wechlppcif cgstsspaqh fgprlpspdp
       61 tlfcslltsw pprfshltql hprhqrilqq qqhsqtpspp akkpwsqqpd pyanlmtrke
      121 kdwvikvqmv qlqsakprld dyyyqeyyqk lekkqadeel lgrrnrvesl klvtpyipka
      181 eayesvvrie gslgqvavst cfsprraida vphgtqeqdi eaassqrlrv lyriekmflq
      241 lleieegwky rppppcfseq qsnqveklfq tlktqeqnnl eeaadgflqv lsvrkgkalv
      301 arllpflpqd qavtillait hhlpllvrrd vadqalqmlf kplgkcishl tlhellqglq
      361 gltllppgss erpvtvvlqn qdrhggsdcl gdspnaysls grtpsfpqqp tspvlsprgq
      421 tigsaaggqd gvcldllicl fwntcmweve ssdtsyidyv yrdpeslktf lmplyigepf
      481 pifisflqks k
//
LOCUS       XP_054234853            1093 aa            linear   PRI 20-MAR-2023
DEFINITION  probable phospholipid-transporting ATPase IM isoform X17 [Homo
            sapiens].
ACCESSION   XP_054234853
VERSION     XP_054234853.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378878.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1093
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1093
                     /product="probable phospholipid-transporting ATPase IM
                     isoform X17"
                     /calculated_mol_wt=123810
     CDS             1..1093
                     /gene="ATP8B4"
                     /gene_synonym="ATPIM"
                     /coded_by="XM_054378878.1:354..3635"
                     /db_xref="GeneID:79895"
                     /db_xref="HGNC:HGNC:13536"
                     /db_xref="MIM:609123"
ORIGIN      
        1 mnvkvgdiik lennqfvaad llllssseph glcyvetael dgslccykdv pwvecqlfga
       61 qealptflkq etnlkvrhal svtselgadi srlagfdgiv vcevpnnkld kfmgilswkd
      121 skhslnneki ilrgcilrnt swcfgmvifa gpdtklmqns gktkfkrtsi drlmntlvlw
      181 ifgfliclgi ilaignsiwe sqtgdqfrtf lfwnegekss vfsgfltfws yiiilntvvp
      241 islyvsvevi rlghsyfinw drkmyysrka ipavartttl neelgqieyi fsdktgtltq
      301 nimtfkrcsi ngriygevhd dldqkteitq ekepvdfsvk sqadrefqff dhnlmesikm
      361 gdpkvheflr llalchtvms eensageliy qvqspdegal vtaarnfgfi fksrtpetit
      421 ieelgtlvty qllafldfnn trkrmsvivr npegqiklys kgadtilfek lhpsnevlls
      481 ltsdhlsefa geglrtlaia yrdlddkyfk ewhkmledan aateerderi aglyeeierd
      541 lmllgatave dklqegviet vtslslanik iwvltgdkqe tainigyacn mltddmndvf
      601 viagnnavev reelrkakqn lfgqnrnfsn ghvvcekkqq leldsiveet itgdyaliin
      661 ghslahales dvkndllela cmcktviccr vtplqkaqvv elvkkyrnav tlaigdgand
      721 vsmiksahig vgisgqeglq avlasdysfa qfrylqrlll vhgrwsyfrm ckflcyffyk
      781 nfaftlvhfw fgffcgfsaq tvydqwfitl fnivytslpv lamgifdqdv sdqnsvdcpq
      841 lykpgqlnll fnkrkfficv lhgiytslvl ffipygafyn vagedgqhia dyqsfavtma
      901 tslvivvsvq ialdtsywtf inhvfiwgsi aiyfsilftm hsngifgifp nqfpfvgnar
      961 hsltqkciwl villttvasv mpvvafrflk vdlyptlsdq irrwqkaqkk arppssrrpr
     1021 trrsssrrsg yafahqegyg elitsgknmr aknppptsgl ekthynstsw ienlckkttd
     1081 tvssfsqdkt vkl
//
LOCUS       XP_054169941             244 aa            linear   PRI 20-MAR-2023
DEFINITION  N-lysine methyltransferase SETD6 isoform X5 [Homo sapiens].
ACCESSION   XP_054169941
VERSION     XP_054169941.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313966.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..244
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..244
                     /product="N-lysine methyltransferase SETD6 isoform X5"
                     /calculated_mol_wt=24140
     CDS             1..244
                     /gene="SETD6"
                     /coded_by="XM_054313966.1:151..885"
                     /db_xref="GeneID:79918"
                     /db_xref="HGNC:HGNC:26116"
                     /db_xref="MIM:616424"
ORIGIN      
        1 matqakrprv sggrgvqpfp prltpspfae psacapsaps rgsraplrss ppppkarsal
       61 aprspavpsg lsggrtwslr alisgggarg rrrpgscgll pelvpaggag aesqgggqpa
      121 ghggrlrhgg pgeragrrav vrgaagrapv aahllhrrpa garascaaep vglgataaga
      181 apraagpglt leallcalar agplgapdvl vralggvger lhrsllqevs pplhqsypvk
      241 cvke
//
LOCUS       XP_054175144            1607 aa            linear   PRI 20-MAR-2023
DEFINITION  FH1/FH2 domain-containing protein 3 isoform X7 [Homo sapiens].
ACCESSION   XP_054175144
VERSION     XP_054175144.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319169.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1607
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1607
                     /product="FH1/FH2 domain-containing protein 3 isoform X7"
                     /calculated_mol_wt=178525
     CDS             1..1607
                     /gene="FHOD3"
                     /gene_synonym="CMH28; FHOS2; Formactin2"
                     /coded_by="XM_054319169.1:124..4947"
                     /db_xref="GeneID:80206"
                     /db_xref="HGNC:HGNC:26178"
                     /db_xref="MIM:609691"
ORIGIN      
        1 matlacrvqf lddtdpfnst nfpepsrppl ftfredlalg tqlagvhrll qaphklddct
       61 lqlshngayl dleatlaeqr delegfqdda grgkkhsiil rtqlsvrvha cieklynssg
      121 rdlrralfsl kqifqddkdl vhefvvaegl tclikvgaea dqnyqnyilr algqimlyvd
      181 gmngvinrne tiqwlytlig skfrlvvkta lklllvfvey sesnaplliq avtavdtkrg
      241 vkpwsnimei leekdgvdte llvyamtlvn ktlsglpdqd tfydvvdcle elgiaavsqr
      301 hlnkkgtdld lveqlniyev alrhedgdet tepppsgcrd rrrasvcssg ggehrgldrr
      361 rsrrhsvqsi kstlsaptsp csqsapsfkp nqvrdlreke eeeeeeqpit epsseeered
      421 dascqgkdsk vgaasgqspt grdaapkssa lpavsnassq gkpllvgtag rttwhsgssg
      481 seatpsalls ppasaarpss atpgslkvsp tidklpyvph spfhlfsydf edsslstkek
      541 eaesqkenss sdsfslstys asepyhfrsf ssnrysnfgn nsyhssrpss gssvpttpts
      601 svsppqearl erqksetrrp eafsdfpqal prsspsgllt ssfrqhqesl aaererrrqe
      661 reerlqrier eernkfsrdy ldkreeqrqa reerykyleq laaeehekel rsrsvsrgra
      721 dlsldltspg apaclaplsh spsssdsqea ltvsasspgt phhpqasagd pepeseaepe
      781 aeagagqvad eagqdiasah egaeteveqa leqepeeras lsekerqneg vnerdncsas
      841 svssssstle reekedklsr drttglwpag vqdagvngqc gdiltnkrfm ldmlyahnrk
      901 spddeekgdg eagrtqqeae avaslatris tlqansqtqd esvrrvdvgc ldnrgsvkaf
      961 aekfnsgdlg rgsispdaep ndkvpetapv qpktesdyiw dqlmanprel riqdmdftdl
     1021 geeddidvld vdlghreapg ppppppptfl glpppppppl ldsippppvp gnllvppppv
     1081 fnapqglgws qvprgqptft kkkktirlfw nevrpfdwpc knnrrcrefl wsklepikvd
     1141 tsrlehlfes kskelsvskk taadgkrqei ivldskrsna inigltvlpp prtikiailn
     1201 fdeyalnkeg iekiltmipt deekqkiqea qlanpeiplg saeqflltls siselsarlh
     1261 lwafkmdyet tekevaepll dlkegidqle nnktlgfils tllaignfln gtnakafels
     1321 ylekvpevkd tvhkqsllhh vctmvvenfp dssdlyseig aitrsakvdf dqlqdnlcqm
     1381 errckaswdh lkaiakhemk pvlkqrmsef lkdcaeriii lkivhrriin rfhsfllfmg
     1441 hppyairevn inkfcriise faleyrttre rvlqqkqkra nhrernktrg kmitdsgkfs
     1501 gsspappsqp qglsyaedaa ehenmkavlk tsspsvedat palgvrtrsr asrgstsswt
     1561 mgtddspnvt ddaadeimdr ivksatqvps qrvvprerkr sranrks
//
LOCUS       XP_054177573             792 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase H isoform X18 [Homo
            sapiens].
ACCESSION   XP_054177573
VERSION     XP_054177573.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321598.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..792
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..792
                     /product="receptor-type tyrosine-protein phosphatase H
                     isoform X18"
                     /calculated_mol_wt=84896
     CDS             1..792
                     /gene="PTPRH"
                     /gene_synonym="R-PTP-H; SAP1"
                     /coded_by="XM_054321598.1:16..2394"
                     /db_xref="GeneID:5794"
                     /db_xref="HGNC:HGNC:9672"
                     /db_xref="MIM:602510"
ORIGIN      
        1 mgrgpaapps psaslgggvv erltpfslgs lqglcswtga rapdlpsqfs apnpgrnltv
       61 etqttssisl swevpdglds qnsnywvqct gdggttetrn ttatnvtvdg lgpgslytcs
      121 vwvekdgvns svgtvttata pnpvrnlrve aqtnssialt wevpdgpdpq nstygveytg
      181 dggragtrst ahtnitvdgl epgclyafsm wvgknginss retrnattah npvrnlrvea
      241 qttssislsw evpdgtdpqn stycvqctgd ggrtetrntt dtrvtvdglg pgslytcsvw
      301 vekdgvnssv eivtsatapn pvrnltveaq tnssialtwe vpdgpdpqns tygveytgdg
      361 gragtrstah tnitvdrlep gclyvfsvwv gknginssre trnattapnp vrnlhmetqt
      421 nssialcwev pdgpypqdyt ywveytgdgg gtetrnttnt svtaerlepg tlytfsvwae
      481 kngargsrqn vsistvpnav tslskqdwtn stialrwtap qgpgqssysy wvswvregmt
      541 dprtqstsgt ditlkeleag slyhltvwae rnevrgynst ltaatapnev tdlqnetqtk
      601 nsvmlwwkap gdphsqlyvy wvqwaskghp rrgqdpqanw vnqtsrtnet wykvealepg
      661 tlynftvwae rndvasstqs lcastypdtv titscvstsa gygvnliwsc pqggyeafel
      721 evggqrgsqd rsscgeavsv lglgparsyp atittiwdgm kvvshsvvch tesagllrsc
      781 slgafkaded gp
//
LOCUS       XP_054180825             267 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear encoded mitochondrial protein C21orf2 isoform X7 [Homo
            sapiens].
ACCESSION   XP_054180825
VERSION     XP_054180825.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324850.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..267
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..267
                     /product="nuclear encoded mitochondrial protein C21orf2
                     isoform X7"
                     /calculated_mol_wt=27808
     CDS             1..267
                     /gene="CFAP410"
                     /gene_synonym="C21orf2; LRRC76; RDMS; SMDAX; YF5/A2"
                     /coded_by="XM_054324850.1:2802..3605"
                     /db_xref="GeneID:755"
                     /db_xref="HGNC:HGNC:1260"
                     /db_xref="MIM:603191"
ORIGIN      
        1 mtvlrtlprl qkldnqavte eelsralseg eeitaapere gtghggpklc ctlsslssaa
       61 etgrdpldse eeatgaqder glkppsrgqf pslsardass shrgrvsggp lgaaaasahc
      121 thctetvgre hgasqgpvgr ehgasqglee lcprgscvcg svnahtrvtr aphgavlapq
      181 plllswsvec gpgpcwaegn rshveevpht rpqagllcsd spsvpnvlta illllrelda
      241 egleavqqtv gsrlqalrge evqehae
//
LOCUS       XP_054202607             377 aa            linear   PRI 20-MAR-2023
DEFINITION  cytoplasmic protein NCK1 isoform X1 [Homo sapiens].
ACCESSION   XP_054202607
VERSION     XP_054202607.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346632.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..377
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..377
                     /product="cytoplasmic protein NCK1 isoform X1"
                     /calculated_mol_wt=42733
     CDS             1..377
                     /gene="NCK1"
                     /gene_synonym="NCK; nck-1; NCKalpha"
                     /coded_by="XM_054346632.1:253..1386"
                     /db_xref="GeneID:4690"
                     /db_xref="HGNC:HGNC:7664"
                     /db_xref="MIM:600508"
ORIGIN      
        1 maeevvvvak fdyvaqqeqe ldikknerlw llddskswwr vrnsmnktgf vpsnyverkn
       61 sarkasivkn lkdtlgigkv krkpsvpdsa spaddsfvdp gerlydlnmp ayvkfnymae
      121 redelslikg tkvivmekcs dgwwrgsyng qvgwfpsnyv teegdsplgd hvgslsekla
      181 avvnnlntgq vlhvvqalyp fsssndeeln fekgdvmdvi ekpendpeww kcrkingmvg
      241 lvpknyvtvm qnnpltsgle psppqcdyir psltgkfagn pwyygkvtrh qaemalnerg
      301 hegdflirds esspndfsvs lkaqgknkhf kvqlketvyc igqrkfstme elvehykkap
      361 iftseqgekl ylvkhls
//
LOCUS       XP_054202873            1561 aa            linear   PRI 20-MAR-2023
DEFINITION  plexin-B1 isoform X3 [Homo sapiens].
ACCESSION   XP_054202873
VERSION     XP_054202873.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346898.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1561
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1561
                     /product="plexin-B1 isoform X3"
                     /calculated_mol_wt=166271
     CDS             1..1561
                     /gene="PLXNB1"
                     /gene_synonym="PLEXIN-B1; PLXN5; SEP"
                     /coded_by="XM_054346898.1:3937..8622"
                     /db_xref="GeneID:5364"
                     /db_xref="HGNC:HGNC:9103"
                     /db_xref="MIM:601053"
ORIGIN      
        1 mpalgpallq alwagwvltl qplpptaftp ngtylqhlar dptsgtlylg atnflfqlsp
       61 glqleatvst gpvldsrdcl ppvmpdecpq aqptnnpnql llvspgalvv cgsvhqgvce
      121 qrrlgqleql llrperpgdt qyvaandpav stvglvaqgl agepllfvgr gytsrgvggg
      181 ippittralw ppdpqaafsy eetaklavgr lseyshhfvs afargasayf lflrrdlqaq
      241 srafrayvsr vclrdqhyys yvelplaceg grygliqaaa vatsrevahg evlfaafssa
      301 apptvgrpps aaagasgasa lcafpldevd rlanrtrdac ytregraedg tevayieydv
      361 nsdcaqlpvd tldaypcgsd htpspmasrv pleatpilew pgiqltavav tmedghtiaf
      421 lgdsqgqlhr vylgpgsdgh pystqsiqqg savsrdltfd gtfehlyvmt qstllkvpva
      481 scaqhldcas clahrdpycg wcvllgrcsr rsecsrgqgp eqwlwsfqpe lgclqvaams
      541 panisreetr evflsvpdlp plwpgesysc hfgehqspal ltgsgvmcps pdpseapvlp
      601 rgadyvsvsv elrfgavvia ktslsfydcv avtelrpsaq cqacvssrwg cnwcvwqhlc
      661 thkascdagp mvashqsplv spdpparggp spspptapka latpapdtlp vepgapstat
      721 asdispgasp sllspwgpwa gsgsisspgs tgsplheeps ppspqngpgt avpaptdfrp
      781 satpedllas plspsevaav ppadpgpeal hptvpldlpp atvpattfpg amgsvkpald
      841 wltreggelp eadewtggda pafststlls gdgdsaeleg ppaplilpss ldyqydtpgl
      901 weleeatlga sscpcvesvq gstlmpvhve reirllgrnl hlfqdgpgdn ecvmelegle
      961 vvvearvece pppdtqchvt cqqhqlsyea lqpelrvglf lrragrlrvd saeglhvvly
     1021 dcsvghgdcs rcqtampqyg cvwcegerpr cvtreacgea eavatqcpap lihsvepltg
     1081 pvdggtrvti rgsnlgqhvq dvlgmvtvag vpcavdaqey evssslvcit gasgeevaga
     1141 tavevpgrgr gvsehdfayq dpkvhsifpa rgpraggtrl tlngsklltg rledirvvvg
     1201 dqpchllpeq qseqlrcets prptpatlpv avwfgaterr lqrgqfkytl dpnitsagpt
     1261 ksflsggrei cvrgqnldvv qtprirvtvv srmlqpsqgl grrrrvvpet acslgpscss
     1321 qqfeepchvn ssqlitcrtp alpglpedpw vrvefildnl vfdfatlnpt pfsyeadptl
     1381 qplnpedptm pfrhkpgsvf svegenldla mskeevvami gdgpcvvktl trhhlycepp
     1441 veqplprhha lreapdslpe ftvqmgnlrf slghvqydge spgafpvaaq vglgvgtsll
     1501 algviiivlm yrpsglcstt qlchcgtkaa rddmethesg cvltnlyknr lwdgfglvvv
     1561 g
//
LOCUS       XP_054205206             991 aa            linear   PRI 20-MAR-2023
DEFINITION  evC complex member EVC isoform X2 [Homo sapiens].
ACCESSION   XP_054205206
VERSION     XP_054205206.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349231.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..991
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..991
                     /product="evC complex member EVC isoform X2"
                     /calculated_mol_wt=111715
     CDS             1..991
                     /gene="EVC"
                     /gene_synonym="DWF-1; EVC1; EVCL"
                     /coded_by="XM_054349231.1:181..3156"
                     /db_xref="GeneID:2121"
                     /db_xref="HGNC:HGNC:3497"
                     /db_xref="MIM:604831"
ORIGIN      
        1 marggaacks darlllgrda lrpapallap avllgaalgl glglwlgcra grqrtrhqkd
       61 dtqnllknle snaptpsetg spsrrrkrev qmskdkeavd eceppsnsni tafalkakvi
      121 ypinqkfrpl adgssnpslh enlkqavlph qpveaspsss lgslsqgekd dcsssssvhs
      181 atsddrflsr tflrvnafpe vlacesvdvd lciyslhlkd llhldtalrq ekhmmfiqif
      241 kmclldllpk kksddelhqk ilskqekdle elekglqvkl sntemsgagd seyitladve
      301 kkereyseql idnmeafwkq maniqhflvd qfkcssskar qlmmtlterm iaaegllcds
      361 qelqaldale rtmgrahmak vieflklqvq eetrcrlaai shglellage gklsgrqkee
      421 lltqqhkafw qeaerfsref vqrgkdlvka slahqvegta kltlaqeeeq rsflaeaqpt
      481 adpekfleaf hevlerqrlm qcdleeeenv rateavvalc qelyfstvdt fqkfvdalfl
      541 qtlpgmtglp peecdylrqe vqenaawqlg ksnrfqrqqw klfqelleqd qqvwmeecal
      601 ssvlqthlre dhegtirgvl grlggltees trcvlqghdl llrsalrrla lrgnalatlt
      661 qmrlsgkkhl lqelreqral eqgssqclde hqwqllrale arvleeasrl eeeaqqtrlq
      721 lqqrllaeaq evgqllqqhm ecaigqallv harnaatksr akdrddfkrt lmeaavesvy
      781 vtsagvsrlv qayyqqigri medheerklq hlktlqgerm enyklrkkqe lsnpssgsrt
      841 aggahetsqa vhqrmlsqqk rflaqfpvhq qmrlhaqqqq agvmdlleaq letqlqeaeq
      901 nfiselaala rvplaeskll pakrgllekp lrtkrkkplp qergdlgvpn nedlasgdqt
      961 sgslskrlsq qeseagdsgn skkmlkrrsn l
//
LOCUS       XP_047300267             530 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 17-like protein 22 [Homo
            sapiens].
ACCESSION   XP_047300267
VERSION     XP_047300267.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047444311.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..530
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..530
                     /product="ubiquitin carboxyl-terminal hydrolase 17-like
                     protein 22"
                     /calculated_mol_wt=59582
     Region          79..373
                     /region_name="Peptidase_C19E"
                     /note="A subfamily of Peptidase C19. Peptidase C19
                     contains ubiquitinyl hydrolases. They are intracellular
                     peptidases that remove ubiquitin molecules from
                     polyubiquinated peptides by cleavage of isopeptide bonds.
                     They hydrolyze bonds involving the carboxyl...; cd02661"
                     /db_xref="CDD:239126"
     Site            order(84,89,334,351)
                     /site_type="active"
                     /db_xref="CDD:239126"
     Region          <417..454
                     /region_name="HABP4_PAI-RBP1"
                     /note="Hyaluronan / mRNA binding family; pfam04774"
                     /db_xref="CDD:428114"
     CDS             1..530
                     /gene="LOC124906406"
                     /coded_by="XM_047444311.1:219..1811"
                     /db_xref="GeneID:124906406"
ORIGIN      
        1 meddslylgg ewqfnhfskl tssrpdaafa eiqrtslpek splscetrvd lcddlapvar
       61 qlapreklpl ssrrpaavga glqnmgntcy vnaslqclty tpplanymls rehsqtchry
      121 kgcmlctmqt hitralhnpg hviqpsqala agfhrgkqed aheflmftvd amkkaclpgh
      181 kqvdhhskdt tlihqifggy wrsqikclhc hgisdtfdpy ldialdiqaa qsvqqaleql
      241 vkpeelngen ayhcgvclqr apasktltlh tsakvlilvl krfsdvtgnk iaknvqypec
      301 ldmqpymsqq ntgplvyvly avlvhagwsc hnghyfsyvk aqegqwykmd daevtassit
      361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel
      421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp
      481 eqqssllnls sttpthqesm ntgtlaslrg rarrskgknk hskrallvcq
//
LOCUS       XP_054211264            2446 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor HIVEP2 isoform X1 [Homo sapiens].
ACCESSION   XP_054211264
VERSION     XP_054211264.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355289.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2446
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2446
                     /product="transcription factor HIVEP2 isoform X1"
                     /calculated_mol_wt=268907
     CDS             1..2446
                     /gene="HIVEP2"
                     /gene_synonym="HIV-EP2; MBP-2; MIBP1; MRD43; SHN2; ZAS2;
                     ZNF40B"
                     /coded_by="XM_054355289.1:919..8259"
                     /db_xref="GeneID:3097"
                     /db_xref="HGNC:HGNC:4921"
                     /db_xref="MIM:143054"
ORIGIN      
        1 mdtgdtalgq katsrsgetd kasgrwrqeq savikmstfg shegqrqpqi epeqigntas
       61 aqlfgsgkla spsevvqqva ekqypphrps pyscqhslsf pqhslpqgvm hstkphqsle
      121 gppwlfpgpl psvasedlfp fpihghsggy prkkisslnp aysqysqksi eqaeeahkke
      181 hkpkkpgkyi cpycsracak psvlkkhirs htgerpypci pcgfsfktks nlykhrksha
      241 haikaglvpf tesavskldl eagfidveae ihsdgeqstd tdeesslfae asdkmspgpp
      301 ipldiasrgg yhgsleeslg gpmkvpilii pksgiplpne ssqyigpdml pnpslntkad
      361 dshtvkqkla lrlsekkgqd sepslnllsp hskgstdsgy fsrsesaeqq isppntnaks
      421 yeeiifgkyc rlsprnalsv tttsqeraam grkgimeplp hvntrldvkm fedpvsqlip
      481 skgdvdpsqt smlkstkfns esrqpqiips sirnegklyp anfqgsnpvl leapvdsspl
      541 irsnsvptss atnltippsl rgshsfderm tgsddvfypg tvgippqrml rrqaafelps
      601 vqeghveveh hgrmlkgiss sslkekklsp gdrvgydydv crkpykkwed setpkqnyrd
      661 isclsslkhg geyfmdpvvp lqgvpsmfgt tcenrkrrke ksvgdeedtp micssivstp
      721 vgimasdydp klqmqegvrs gfamaghenl shghterfdp crpqlqpgsp slvseespsa
      781 idsdkmsdlg grkppgnvis viqhtnslsr pnsfersesa elvactqdka pspsetcdse
      841 iseapvspew appgdgaesg gkpspsqqvq qqsyhtqprl vrqhniqvpe irvteepdkp
      901 ekekeaqske pekpveefqw pqrsetlsql paeklppkkk rlrladmehs sgessfestg
      961 tglsrspsqe snlshsssfs msfereetsk lsalpkqdef gkhsefltvp agsyslsvpg
     1021 hhhqkemrrc sseqmpcphp aevpevrsks fdygnlshap vsgaaastvs psrerkkcfl
     1081 vrqasfsgsp eisqgevgmd qsvkqeqleh lhaglrsgwh hgppavlppl qqedpgkqva
     1141 gpcpplssgp lhlaqpqimh mdsqeslrnp liqptsymts khlpeqphlf phqetipfsp
     1201 iqnalfqfqy ptvcmvhlpa qqppwwqahf phpfaqhpqk sygkpsfqte ihssyplehv
     1261 aehtgkkpae yahtkeqtyp cysgasglhp knllpkfpsd qsskstetps eqvlqedfas
     1321 anagslqslp gtvvpvriqt hvpsygsvmy tsisqilgqn spaivickvd enmtqrtlvt
     1381 naamqgigfn iaqvlgqhag lekypiwkap qtlplgless iplclpstsd svatlggskr
     1441 mlspasslel fmetkqqkrv keekmygqiv eelsaveltn sdikkdlsrp qkpqlvrqgc
     1501 asepkdglqs gsssfsslsp sssqdypsvs pssrepfpps kemlsgsrap lpgqkssgps
     1561 eskessdeld idetasdmsm spqssslpag dgqleeegkg hkrpvgmlvr masapsgnva
     1621 dstllltdma dfqqilqfps lrttttvswc flnytkpnyv qqatfkssvy aswcisscnp
     1681 npsglntktt lallrskqki taeiytlaam hrpgtgklts ssawkqftqm kpdasflfgs
     1741 klerklvgni lkergkgdih gdkdigskqt epirikifeg gyksnedyvy vrgrgrgkyi
     1801 ceecgirckk psmlkkhirt htdvrpyvck lcnfafktkg nltkhmkska hmkkclelgv
     1861 smtsvddtet eeaenledlh kaaekhsmss istdhqfsda eesdgedgdd nddddededd
     1921 fddqgdltpk trsrstspqp prfsslpvnv gavphgvpsd sslghsslis ylvtlpsirv
     1981 tqlmtpsdsc edtqmteyqr lfqskstdse pdkdrldips cmdeecmlps epsssprdfs
     2041 psshhsspgy dsspcrdnsp krylipkgdl sprrhlsprr dlspmrhlsp rkeaalrrem
     2101 sqrdvsprrh lsprrpvspg kditarrdls prrerrymtt irapsprral yhnpplsmgq
     2161 ylqaepivlg ppnlrrglpq vpyfslygdq egayehpgss lfpegpndyv fshlplhsqq
     2221 qvrapipmvp vggiqmvhsm ppalsslhps ptlplpmegf eekkgasges fskdpyvlsk
     2281 qhekrgphal qssgppstps sprllmkqst sedslnater eqeeniqtct kaiaslriat
     2341 eeaallgpdq parvqephqn plgsahvsir hfsrpepgqp ctsathpdlh dgekdnfgts
     2401 qtplahstfy skscvddkql dfhsskelss steeskdpss eksqlh
//
LOCUS       NP_001073289            1034 aa            linear   PRI 17-APR-2023
DEFINITION  NACHT, LRR and PYD domains-containing protein 3 isoform e [Homo
            sapiens].
ACCESSION   NP_001073289
VERSION     NP_001073289.2
DBSOURCE    REFSEQ: accession NM_001079821.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1034)
  AUTHORS   Chen X, Li W and Chang C.
  TITLE     NR3C2 mediates oxidised low-density lipoprotein-induced human
            coronary endothelial cells dysfunction via modulation of NLRP3
            inflammasome activation
  JOURNAL   Autoimmunity 56 (1), 2189135 (2023)
   PUBMED   36919662
  REMARK    GeneRIF: NR3C2 mediates oxidised low-density lipoprotein-induced
            human coronary endothelial cells dysfunction via modulation of
            NLRP3 inflammasome activation.
REFERENCE   2  (residues 1 to 1034)
  AUTHORS   Xia J, Jiang S, Dong S, Liao Y and Zhou Y.
  TITLE     The Role of Post-Translational Modifications in Regulation of NLRP3
            Inflammasome Activation
  JOURNAL   Int J Mol Sci 24 (7), 6126 (2023)
   PUBMED   37047097
  REMARK    GeneRIF: The Role of Post-Translational Modifications in Regulation
            of NLRP3 Inflammasome Activation.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1034)
  AUTHORS   Wang Y, Fang D, Yang Q, You J, Wang L, Wu J, Zeng M and Luo M.
  TITLE     Interactions between PCSK9 and NLRP3 inflammasome signaling in
            atherosclerosis
  JOURNAL   Front Immunol 14, 1126823 (2023)
   PUBMED   36911736
  REMARK    GeneRIF: Interactions between PCSK9 and NLRP3 inflammasome
            signaling in atherosclerosis.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1034)
  AUTHORS   Chen IY, Moriyama M, Chang MF and Ichinohe T.
  TITLE     Severe Acute Respiratory Syndrome Coronavirus Viroporin 3a
            Activates the NLRP3 Inflammasome
  JOURNAL   Front Microbiol 10, 50 (2019)
   PUBMED   30761102
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1034)
  AUTHORS   Hoffman HM, Gregory SG, Mueller JL, Tresierras M, Broide DH,
            Wanderer AA and Kolodner RD.
  TITLE     Fine structure mapping of CIAS1: identification of an ancestral
            haplotype and a common FCAS mutation, L353P
  JOURNAL   Hum Genet 112 (2), 209-216 (2003)
   PUBMED   12522564
  REMARK    GeneRIF: a single heterozygous missense mutation (T1058C=L353P) in
            exon 3 of CIAS1 in all four families that is responsible for the
            large majority of FCAS cases
REFERENCE   6  (residues 1 to 1034)
  AUTHORS   Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E,
            Teillac-Hamel D, Fischer A and de Saint Basile G.
  TITLE     Chronic infantile neurological cutaneous and articular syndrome is
            caused by mutations in CIAS1, a gene highly expressed in
            polymorphonuclear cells and chondrocytes
  JOURNAL   Am J Hum Genet 71 (1), 198-203 (2002)
   PUBMED   12032915
  REMARK    GeneRIF: Chronic infantile neurological cutaneous and articular
            syndrome is caused by mutations in CIAS1, a gene highly expressed
            in polymorphonuclear cells and chondrocytes.
REFERENCE   7  (residues 1 to 1034)
  AUTHORS   Manji GA, Wang L, Geddes BJ, Brown M, Merriam S, Al-Garawi A, Mak
            S, Lora JM, Briskin M, Jurman M, Cao J, DiStefano PS and Bertin J.
  TITLE     PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with
            ASC and regulates activation of NF-kappa B
  JOURNAL   J Biol Chem 277 (13), 11570-11575 (2002)
   PUBMED   11786556
REFERENCE   8  (residues 1 to 1034)
  AUTHORS   Hoffman HM, Mueller JL, Broide DH, Wanderer AA and Kolodner RD.
  TITLE     Mutation of a new gene encoding a putative pyrin-like protein
            causes familial cold autoinflammatory syndrome and Muckle-Wells
            syndrome
  JOURNAL   Nat Genet 29 (3), 301-305 (2001)
   PUBMED   11687797
REFERENCE   9  (residues 1 to 1034)
  AUTHORS   Hoffman HM, Wright FA, Broide DH, Wanderer AA and Kolodner RD.
  TITLE     Identification of a locus on chromosome 1q44 for familial cold
            urticaria
  JOURNAL   Am J Hum Genet 66 (5), 1693-1698 (2000)
   PUBMED   10741953
REFERENCE   10 (residues 1 to 1034)
  AUTHORS   Alva Quinones,J.
  TITLE     [Profanities and the profane person]
  JOURNAL   Acta Psiquiatr Psicol Am Lat 21 (2), 90-94 (1975)
   PUBMED   1189953
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK314998.1, AF410477.1,
            AC104335.2 and AL606804.11.
            On Dec 19, 2019 this sequence version replaced NP_001073289.1.
            
            Summary: This gene encodes a pyrin-like protein containing a pyrin
            domain, a nucleotide-binding site (NBS) domain, and a leucine-rich
            repeat (LRR) motif. This protein interacts with the
            apoptosis-associated speck-like protein PYCARD/ASC, which contains
            a caspase recruitment domain, and is a member of the NLRP3
            inflammasome complex. This complex functions as an upstream
            activator of NF-kappaB signaling, and it plays a role in the
            regulation of inflammation, the immune response, and apoptosis. The
            SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has
            been shown to activate the NLRP3 inflammasome via the formation of
            ion channels in macrophages. Mutations in this gene are associated
            with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells
            syndrome (MWS), chronic infantile neurological cutaneous and
            articular (CINCA) syndrome, neonatal-onset multisystem inflammatory
            disease (NOMID), keratoendotheliitis fugax hereditarian, and
            deafness, autosomal dominant 34, with or without inflammation.
            Multiple alternatively spliced transcript variants encoding
            distinct isoforms have been identified for this gene. Alternative
            5' UTR structures are suggested by available data; however,
            insufficient evidence is available to determine if all of the
            represented 5' UTR splice patterns are biologically valid.
            [provided by RefSeq, Aug 2020].
            
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 6. Both variants 3 and 6 encode the same
            isoform (e).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF420469.2, AK314998.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: community standard
                                                (PMID:11687797)
            coronavirus related              :: involved in cytokine storm
                                                inflammatory response
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1034
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     Protein         1..1034
                     /product="NACHT, LRR and PYD domains-containing protein 3
                     isoform e"
                     /note="nucleotide-binding oligomerization domain, leucine
                     rich repeat and pyrin domain containing 3; NACHT, LRR and
                     PYD containing protein 3; NACHT, LRR and PYD
                     domains-containing protein 3; cryopyrin; cold-induced
                     autoinflammatory syndrome 1 protein; PYRIN-containing
                     APAF1-like protein 1; NACHT domain-, leucine-rich repeat-,
                     and PYD-containing protein 3; caterpiller protein 1.1;
                     cold autoinflammatory syndrome 1 protein; deafness,
                     autosomal dominant 34; cryopyrin, NACHT, LRR and PYD
                     domains - containing protein 3"
                     /calculated_mol_wt=117783
     Region          8..91
                     /region_name="Pyrin_NALPs"
                     /note="Pyrin death domain found in NALP proteins; cd08320"
                     /db_xref="CDD:260032"
     Region          142..208
                     /region_name="FISNA"
                     /note="Fish-specific NACHT associated domain; pfam14484"
                     /db_xref="CDD:433982"
     Region          218..387
                     /region_name="NACHT"
                     /note="NACHT domain; pfam05729"
                     /db_xref="CDD:428606"
     Region          464..518
                     /region_name="NOD2_WH"
                     /note="NOD2 winged helix domain; pfam17779"
                     /db_xref="CDD:436037"
     Region          573..949
                     /region_name="LRR_RI"
                     /note="Leucine-rich repeats (LRRs), ribonuclease inhibitor
                     (RI)-like subfamily. LRRs are 20-29 residue sequence
                     motifs present in many proteins that participate in
                     protein-protein interactions and have different functions
                     and cellular locations. LRRs correspond...; cd00116"
                     /db_xref="CDD:238064"
     Site            order(575,577,580,582,597,600,602,605,607,625,628,630,633,
                     635,656,659,661,664,666,741,744,746,749,751,770,773,775,
                     778,780,798,801,803,806,808,827,830,832,835,837,855,858,
                     860,863,865,884,887,889,892,894,912,915,917,920,922,941,
                     944,946,949)
                     /site_type="active"
                     /note="Leucine-rich repeats [active]"
                     /db_xref="CDD:238064"
     Site            order(603..604,663,777,805,862,888,890,916,945)
                     /site_type="other"
                     /note="Substrate binding site [chemical binding]"
                     /db_xref="CDD:238064"
     Region          741..769
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          798..826
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          827..854
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          855..879
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          883..>1029
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          884..911
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          912..940
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          941..968
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          969..988
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..1034
                     /gene="NLRP3"
                     /gene_synonym="AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1;
                     DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1"
                     /coded_by="NM_001079821.3:128..3232"
                     /note="isoform e is encoded by transcript variant 3"
                     /db_xref="GeneID:114548"
                     /db_xref="HGNC:HGNC:16400"
                     /db_xref="MIM:606416"
ORIGIN      
        1 mastrcklar yledledvdl kkfkmhledy ppqkgciplp rgqtekadhv dlatlmidfn
       61 geekawamav wifaainrrd lyekakrdep kwgsdnarvs nptvicqeds ieeewmglle
      121 ylsrisickm kkdyrkkyrk yvrsrfqcie drnarlgesv slnkrytrlr likehrsqqe
      181 reqellaigk tktcespvsp ikmellfdpd dehsepvhtv vfqgaagigk tilarkmmld
      241 wasgtlyqdr fdylfyihcr evslvtqrsl gdlimsccpd pnppihkivr kpsrilflmd
      301 gfdelqgafd ehigplctdw qkaergdill sslirkkllp easllittrp valeklqhll
      361 dhprhveilg fseakrkeyf fkyfsdeaqa raafsliqen evlftmcfip lvcwivctgl
      421 kqqmesgksl aqtsktttav yvfflssllq prggsqehgl cahlwglcsl aadgiwnqki
      481 lfeesdlrnh glqkadvsaf lrmnlfqkev dcekfysfih mtfqeffaam yylleeekeg
      541 rtnvpgsrlk lpsrdvtvll enygkfekgy lifvvrflfg lvnqertsyl ekklsckisq
      601 qirlellkwi evkakakklq iqpsqlelfy clyemqeedf vqramdyfpk ieinlstrmd
      661 hmvssfcien chrveslslg flhnmpkeee eeekegrhld mvqcvlpsss haacshglvn
      721 shltssfcrg lfsvlstsqs lteldlsdns lgdpgmrvlc etlqhpgcni rrlwlgrcgl
      781 sheccfdisl vlssnqklve ldlsdnalgd fgirllcvgl khllcnlkkl wlvsccltsa
      841 ccqdlasvls tshsltrlyv genalgdsgv ailcekaknp qcnlqklglv nsgltsvccs
      901 alssvlstnq nlthlylrgn tlgdkgikll cegllhpdck lqvleldncn ltshccwdls
      961 tlltssqslr klslgnndlg dlgvmmfcev lkqqscllqn lglsemyfny etksaletlq
     1021 eekpeltvvf epsw
//
LOCUS       NP_001159507             169 aa            linear   PRI 14-DEC-2022
DEFINITION  suprabasin isoform 3 precursor [Homo sapiens].
ACCESSION   NP_001159507
VERSION     NP_001159507.1
DBSOURCE    REFSEQ: accession NM_001166035.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 169)
  AUTHORS   Chen H, Chen X, Zhang Z, Bao W, Gao Z, Li D, Xie X, Zhou P, Yang C,
            Zhou Z, Pan J, Kuang X, Tang R, Feng Z, Zhou L, Zhu D, Yang J, Wang
            L, Huang H, Tang D, Liu J and Jiang L.
  TITLE     Extracellular vesicles-transferred SBSN drives glioma
            aggressiveness by activating NF-kappaB via ANXA1-dependent
            ubiquitination of NEMO
  JOURNAL   Oncogene 41 (49), 5253-5265 (2022)
   PUBMED   36316443
  REMARK    GeneRIF: Extracellular vesicles-transferred SBSN drives glioma
            aggressiveness by activating NF-kappaB via ANXA1-dependent
            ubiquitination of NEMO.
REFERENCE   2  (residues 1 to 169)
  AUTHORS   Tan H, Wang L and Liu Z.
  TITLE     Suprabasin: Role in human cancers and other diseases
  JOURNAL   Mol Biol Rep 49 (2), 1453-1461 (2022)
   PUBMED   34775572
  REMARK    GeneRIF: Suprabasin: Role in human cancers and other diseases.
            Review article
REFERENCE   3  (residues 1 to 169)
  AUTHORS   Pribyl M, Hodny Z and Kubikova I.
  TITLE     Suprabasin-A Review
  JOURNAL   Genes (Basel) 12 (1), 108 (2021)
   PUBMED   33477529
  REMARK    GeneRIF: Suprabasin-A Review.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 169)
  AUTHORS   Pribyl M, Hubackova S, Moudra A, Vancurova M, Polackova H, Stopka
            T, Jonasova A, Bokorova R, Fuchs O, Stritesky J, Salovska B, Bartek
            J and Hodny Z.
  TITLE     Aberrantly elevated suprabasin in the bone marrow as a candidate
            biomarker of advanced disease state in myelodysplastic syndromes
  JOURNAL   Mol Oncol 14 (10), 2403-2419 (2020)
   PUBMED   32696549
  REMARK    GeneRIF: Aberrantly elevated suprabasin in the bone marrow as a
            candidate biomarker of advanced disease state in myelodysplastic
            syndromes.
REFERENCE   5  (residues 1 to 169)
  AUTHORS   Aoshima M, Phadungsaksawasdi P, Nakazawa S, Iwasaki M, Sakabe JI,
            Umayahara T, Yatagai T, Ikeya S, Shimauchi T and Tokura Y.
  TITLE     Decreased expression of suprabasin induces aberrant differentiation
            and apoptosis of epidermal keratinocytes: Possible role for atopic
            dermatitis
  JOURNAL   J Dermatol Sci 95 (3), 107-112 (2019)
   PUBMED   31399284
  REMARK    GeneRIF: Epidermal SBSN expression was decreased in atopic
            dermatitis (AD) lesional skin compared to healthy skin. The SBSN
            serum levels were significantly lower in AD patients than in normal
            subjects. Study results suggested that SBSN regulates normal
            epidermal barrierand has an anti-apoptotic activity, and its
            deficiency is involved in the pathogenesis of AD.
REFERENCE   6  (residues 1 to 169)
  AUTHORS   Gonzalez-Begne M, Lu B, Han X, Hagen FK, Hand AR, Melvin JE and
            Yates JR.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   7  (residues 1 to 169)
  AUTHORS   Toulza E, Mattiuzzo NR, Galliano MF, Jonca N, Dossat C, Jacob D, de
            Daruvar A, Wincker P, Serre G and Guerrin M.
  TITLE     Large-scale identification of human genes implicated in epidermal
            barrier function
  JOURNAL   Genome Biol 8 (6), R107 (2007)
   PUBMED   17562024
REFERENCE   8  (residues 1 to 169)
  AUTHORS   Matsui T, Hayashi-Kisumi F, Kinoshita Y, Katahira S, Morita K,
            Miyachi Y, Ono Y, Imai T, Tanigawa Y, Komiya T and Tsukita S.
  TITLE     Identification of novel keratinocyte-secreted peptides
            dermokine-alpha/-beta and a new stratified epithelium-secreted
            protein gene complex on human chromosome 19q13.1
  JOURNAL   Genomics 84 (2), 384-397 (2004)
   PUBMED   15234001
REFERENCE   9  (residues 1 to 169)
  AUTHORS   Moffatt P, Salois P, St-Amant N, Gaumond MH and Lanctot C.
  TITLE     Identification of a conserved cluster of skin-specific genes
            encoding secreted proteins
  JOURNAL   Gene 334, 123-131 (2004)
   PUBMED   15256262
REFERENCE   10 (residues 1 to 169)
  AUTHORS   Park GT, Lim SE, Jang SI and Morasso MI.
  TITLE     Suprabasin, a novel epidermal differentiation marker and potential
            cornified envelope precursor
  JOURNAL   J Biol Chem 277 (47), 45195-45202 (2002)
   PUBMED   12228223
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY358701.1, AA055367.1 and BC063640.1.
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            segment of the coding region, compared to variant 1, resulting in
            an isoform (3) that is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AI275399.1, BF869496.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..169
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     Protein         1..169
                     /product="suprabasin isoform 3 precursor"
                     /note="HLAR698"
                     /calculated_mol_wt=14845
     sig_peptide     1..25
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2540
     CDS             1..169
                     /gene="SBSN"
                     /gene_synonym="UNQ698"
                     /coded_by="NM_001166035.2:31..540"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="GeneID:374897"
                     /db_xref="HGNC:HGNC:24950"
                     /db_xref="MIM:609969"
ORIGIN      
        1 mhlarlvgsc slllllgals gwaasddpie kvieginrgl snaerevgka ldginsgith
       61 agrevekvfn glsnmgshtg keldkgvqgl nhgmdkvahe inhgigqagk eaeklghgvn
      121 naagqgnhqs gssshqggat ttplasgasv ntpfinlpal wrsvanimp
//
LOCUS       NP_001306872             991 aa            linear   PRI 23-DEC-2022
DEFINITION  peptidyl-glycine alpha-amidating monooxygenase isoform f precursor
            [Homo sapiens].
ACCESSION   NP_001306872 XP_011541722
VERSION     NP_001306872.1
DBSOURCE    REFSEQ: accession NM_001319943.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 991)
  AUTHORS   Sheng B, Wei H, Li Z, Wei H and Zhao Q.
  TITLE     PAM variants were associated with type 2 diabetes mellitus risk in
            the Chinese population
  JOURNAL   Funct Integr Genomics 22 (4), 525-535 (2022)
   PUBMED   35394266
  REMARK    GeneRIF: PAM variants were associated with type 2 diabetes mellitus
            risk in the Chinese population.
REFERENCE   2  (residues 1 to 991)
  AUTHORS   Barchiesi A, Bazzani V, Tolotto V, Elancheliyan P, Wasilewski M,
            Chacinska A and Vascotto C.
  TITLE     Mitochondrial Oxidative Stress Induces Rapid Intermembrane
            Space/Matrix Translocation of Apurinic/Apyrimidinic Endonuclease 1
            Protein through TIM23 Complex
  JOURNAL   J Mol Biol 432 (24), 166713 (2020)
   PUBMED   33197464
  REMARK    GeneRIF: Mitochondrial Oxidative Stress Induces Rapid Intermembrane
            Space/Matrix Translocation of Apurinic/Apyrimidinic Endonuclease 1
            Protein through TIM23 Complex.
REFERENCE   3  (residues 1 to 991)
  AUTHORS   Chen YC, Mains RE, Eipper BA, Hoffman BG, Czyzyk TA, Pintar JE and
            Verchere CB.
  TITLE     PAM haploinsufficiency does not accelerate the development of diet-
            and human IAPP-induced diabetes in mice
  JOURNAL   Diabetologia 63 (3), 561-576 (2020)
   PUBMED   31984442
  REMARK    GeneRIF: PAM haploinsufficiency does not accelerate the development
            of diet- and human IAPP-induced diabetes in mice.
            Erratum:[Diabetologia. 2020 May;63(5):1090. PMID: 32172312]
REFERENCE   4  (residues 1 to 991)
  AUTHORS   Desbois M, Crawley O, Evans PR, Baker ST, Masuho I, Yasuda R and
            Grill B.
  TITLE     PAM forms an atypical SCF ubiquitin ligase complex that
            ubiquitinates and degrades NMNAT2
  JOURNAL   J Biol Chem 293 (36), 13897-13909 (2018)
   PUBMED   29997255
  REMARK    GeneRIF: PAM polyubiquitinates NMNAT2 and regulates NMNAT2 protein
            stability and degradation by the proteasome.
REFERENCE   5  (residues 1 to 991)
  AUTHORS   Thomsen SK, Raimondo A, Hastoy B, Sengupta S, Dai XQ, Bautista A,
            Censin J, Payne AJ, Umapathysivam MM, Spigelman AF, Barrett A,
            Groves CJ, Beer NL, Manning Fox JE, McCarthy MI, Clark A, Mahajan
            A, Rorsman P, MacDonald PE and Gloyn AL.
  TITLE     Type 2 diabetes risk alleles in PAM impact insulin release from
            human pancreatic beta-cells
  JOURNAL   Nat Genet 50 (8), 1122-1131 (2018)
   PUBMED   30054598
  REMARK    GeneRIF: A role for PAM in beta-cell function.
            GeneRIF: The T2D risk-associated rs35658696 (p.Asp563Gly) allele of
            PAM confers reduced amidating activity.
            GeneRIF: siRNA-mediated knockdown of PAM in EndoC-BetaH1 cells
            caused reductions in insulin secretion and content. These effects
            were also observed in primary islets from human donors heterozygous
            for the T2D risk-associated rs35658696 variant.
            GeneRIF: The T2D risk-associated rs35658696 (p.Asp563Gly) allele of
            PAM confers decreased PAM expression in human islets.
REFERENCE   6  (residues 1 to 991)
  AUTHORS   Vos MD, Jones JE and Treston AM.
  TITLE     Human peptidylglycine alpha-amidating monooxygenase transcripts
            derived by alternative mRNA splicing of an unreported exon
  JOURNAL   Gene 163 (2), 307-311 (1995)
   PUBMED   7590286
REFERENCE   7  (residues 1 to 991)
  AUTHORS   Tsukamoto T, Noguchi M, Kayama H, Watanabe T, Asoh T and Yamamoto
            T.
  TITLE     Increased peptidylglycine alpha-amidating monooxygenase activity in
            cerebrospinal fluid of patients with multiple sclerosis
  JOURNAL   Intern Med 34 (4), 229-232 (1995)
   PUBMED   7606087
REFERENCE   8  (residues 1 to 991)
  AUTHORS   Mains RE, Milgram SL, Keutmann HT and Eipper BA.
  TITLE     The NH2-terminal proregion of peptidylglycine alpha-amidating
            monooxygenase facilitates the secretion of soluble proteins
  JOURNAL   Mol Endocrinol 9 (1), 3-13 (1995)
   PUBMED   7760848
REFERENCE   9  (residues 1 to 991)
  AUTHORS   Ouafik LH, Stoffers DA, Campbell TA, Johnson RC, Bloomquist BT,
            Mains RE and Eipper BA.
  TITLE     The multifunctional peptidylglycine alpha-amidating monooxygenase
            gene: exon/intron organization of catalytic, processing, and
            routing domains
  JOURNAL   Mol Endocrinol 6 (10), 1571-1584 (1992)
   PUBMED   1448112
REFERENCE   10 (residues 1 to 991)
  AUTHORS   Glauder J, Ragg H, Rauch J and Engels JW.
  TITLE     Human peptidylglycine alpha-amidating monooxygenase: cDNA, cloning
            and functional expression of a truncated form in COS cells
  JOURNAL   Biochem Biophys Res Commun 169 (2), 551-558 (1990)
   PUBMED   2357221
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA406933.1, DA240822.1,
            AB095007.1, U19966.1, AC010250.7 and BI966687.1.
            On Feb 6, 2016 this sequence version replaced XP_011541722.1.
            
            Summary: This gene encodes a multifunctional protein. The encoded
            preproprotein is proteolytically processed to generate the mature
            enzyme. This enzyme includes two domains with distinct catalytic
            activities, a peptidylglycine alpha-hydroxylating monooxygenase
            (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating
            lyase (PAL) domain. These catalytic domains work sequentially to
            catalyze the conversion of neuroendocrine peptides to active
            alpha-amidated products. Alternative splicing results in multiple
            transcript variants, at least one of which encodes an isoform that
            is proteolytically processed. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (7) differs in the 5' UTR and
            contains an alternate in-frame exon in its central coding region
            compared to variant 5. The encoded isoform (f) is longer than
            isoform e and may undergo proteolytic processing similar to isoform
            e.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1966682,
                              SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..991
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q21.1"
     Protein         1..991
                     /product="peptidyl-glycine alpha-amidating monooxygenase
                     isoform f precursor"
                     /EC_number="1.14.17.3"
                     /EC_number="4.3.2.5"
                     /note="peptidyl alpha-amidating enzyme; peptidylglycine
                     2-hydroxylase; peptidylglycine alpha-hydroxylating
                     monooxygenase; peptidyl-alpha-hydroxyglycine
                     alpha-amidating lyase; pancreatic peptidylglycine
                     alpha-amidating monooxygenase; peptidylamidoglycolate
                     lyase"
                     /calculated_mol_wt=108462
     Region          1..494
                     /region_name="Peptidylglycine alpha-hydroxylating
                     monooxygenase. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P19021.2)"
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2074
     Region          59..168
                     /region_name="Cu2_monooxygen"
                     /note="Copper type II ascorbate-dependent monooxygenase,
                     N-terminal domain; pfam01082"
                     /db_xref="CDD:426035"
     Region          196..342
                     /region_name="Cu2_monoox_C"
                     /note="Copper type II ascorbate-dependent monooxygenase,
                     C-terminal domain; pfam03712"
                     /db_xref="CDD:427456"
     Region          513..835
                     /region_name="Peptidyl-alpha-hydroxyglycine
                     alpha-amidating lyase. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P19021.2)"
     Region          518..825
                     /region_name="NHL_PAL_like"
                     /note="Peptidyl-alpha-hydroxyglycine alpha-amidating lyase
                     (PAL, EC 4.3.2.5); cd14958"
                     /db_xref="CDD:271328"
     Region          532..593
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271328"
     Site            order(535,602,653,802)
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:271328"
     Region          599..640
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271328"
     Region          651..689
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271328"
     Region          701..739
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271328"
     Region          747..792
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271328"
     Site            780
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P19021.2)"
     Region          798..824
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271328"
     Site            882..905
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P19021.2)"
     Site            893
                     /site_type="sulfatation"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:8144680; propagated from
                     UniProtKB/Swiss-Prot (P19021.2)"
     Site            911
                     /site_type="sulfatation"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:8144680; propagated from
                     UniProtKB/Swiss-Prot (P19021.2)"
     Site            936
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P19021.2)"
     Region          943..960
                     /region_name="Interaction with RASSF9.
                     /evidence=ECO:0000250|UniProtKB:P14925"
                     /note="propagated from UniProtKB/Swiss-Prot (P19021.2)"
     Site            947
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P19021.2)"
     Region          955..991
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P19021.2)"
     Site            960
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P19021.2)"
     Site            961
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:10574929; propagated from
                     UniProtKB/Swiss-Prot (P19021.2)"
     Site            964
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by UHMK1, in vitro.
                     /evidence=ECO:0000269|PubMed:10574929,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P19021.2)"
     Site            975
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P14925; propagated from
                     UniProtKB/Swiss-Prot (P19021.2)"
     CDS             1..991
                     /gene="PAM"
                     /gene_synonym="PAL; PHM"
                     /coded_by="NM_001319943.1:940..3915"
                     /note="isoform f precursor is encoded by transcript
                     variant 7"
                     /db_xref="GeneID:5066"
                     /db_xref="HGNC:HGNC:8596"
                     /db_xref="MIM:170270"
ORIGIN      
        1 magrvpsllv llvfpsscla frsplsvfkr fkettrpfsn eclgttrpvv pidssdfald
       61 irmpgvtpkq sdtyfcmsmr ipvdeeafvi dfkprasmdt vhhmllfgcn mpsstgsywf
      121 cdegtctdka nilyawarna pptrlpkgvg frvggetgsk yfvlqvhygd isafrdnnkd
      181 csgvslhltr lpqpliagmy lmmsvdtvip agekvvnsdi schyknypmh vfayrvhthh
      241 lgkvvsgyrv rngqwtligr qspqlpqafy pvghpvdvsf gdllaarcvf tgegrteath
      301 iggtssdemc nlyimyymea khavsfmtct qnvapdmfrt ippeanipip vksdmvmmhe
      361 hhketeykdk ipllqqpkre eeevldqgdf ysllskllge redvvhvhky nptekaeses
      421 dlvaeianvv qkkdlgrsda regaehergn ailvrdrihk fhrlvstlrp pesrvfslqq
      481 pppgegtwep ehtgarredm kcfqckemis vqdfhmeeal dwpgvyllpg qvsgvaldpk
      541 nnlvifhrgd hvwdgnsfds kfvyqqiglg pieedtilvi dpnnaavlqs sgknlfylph
      601 glsidkdgny wvtdvalhqv fkldpnnkeg pvlilgrsmq pgsdqnhfcq ptdvavdpgt
      661 gaiyvsdgyc nsrivqfsps gkfitqwgee ssgssplpgq ftvphslalv pllgqlcvad
      721 rengriqcfk tdtkefvrei khssfgrnvf aisyipgllf avngkphfgd qepvqgfvmn
      781 fsngeiidif kpvrkhfdmp hdivasedgt vyigdahtnt vwkftltekl ehrsvkkagi
      841 evqeikeaea vvetkmenkp tsselqkmqe kqklikepgs gvpvvlittl lvipvvvlla
      901 iaifirwkks rafgdsehkl etssgrvlgr frgkgsggln lgnffasrkg ysrkgfdrls
      961 tegsdqeked dgseseeeys aplpalapss s
//
LOCUS       NP_004888                487 aa            linear   PRI 24-DEC-2022
DEFINITION  multiple inositol polyphosphate phosphatase 1 isoform 1 precursor
            [Homo sapiens].
ACCESSION   NP_004888
VERSION     NP_004888.2
DBSOURCE    REFSEQ: accession NM_004897.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 487)
  AUTHORS   Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M,
            Roosendaal SD, Dehghani M, Mehrjardi MYV, Torti E, Houlden H,
            Maroofian R, Rajabi F, Sticht H, Baas F, Wieczorek D and Jamra RA.
  TITLE     Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
  JOURNAL   Eur J Hum Genet 29 (3), 411-421 (2021)
   PUBMED   33168985
  REMARK    GeneRIF: Pontocerebellar hypoplasia due to bi-allelic variants in
            MINPP1.
REFERENCE   2  (residues 1 to 487)
  AUTHORS   Ucuncu E, Rajamani K, Wilson MSC, Medina-Cano D, Altin N, David P,
            Barcia G, Lefort N, Banal C, Vasilache-Dangles MT, Pitelet G,
            Lorino E, Rabasse N, Bieth E, Zaki MS, Topcu M, Sonmez FM, Musaev
            D, Stanley V, Bole-Feysot C, Nitschke P, Munnich A, Bahi-Buisson N,
            Fossoud C, Giuliano F, Colleaux L, Burglen L, Gleeson JG, Boddaert
            N, Saiardi A and Cantagrel V.
  TITLE     MINPP1 prevents intracellular accumulation of the chelator inositol
            hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
  JOURNAL   Nat Commun 11 (1), 6087 (2020)
   PUBMED   33257696
  REMARK    GeneRIF: MINPP1 prevents intracellular accumulation of the chelator
            inositol hexakisphosphate and is mutated in Pontocerebellar
            Hypoplasia.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 487)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 487)
  AUTHORS   Kilaparty SP, Agarwal R, Singh P, Kannan K and Ali N.
  TITLE     Endoplasmic reticulum stress-induced apoptosis accompanies enhanced
            expression of multiple inositol polyphosphate phosphatase 1
            (Minpp1): a possible role for Minpp1 in cellular stress response
  JOURNAL   Cell Stress Chaperones 21 (4), 593-608 (2016)
   PUBMED   27038811
  REMARK    GeneRIF: Minpp1 exhibits characteristics of a stress responsive
            molecule during Endoplasmic reticulum stress-induced apoptosis
REFERENCE   5  (residues 1 to 487)
  AUTHORS   Windhorst S, Lin H, Blechner C, Fanick W, Brandt L, Brehm MA and
            Mayr GW.
  TITLE     Tumour cells can employ extracellular Ins(1,2,3,4,5,6)P(6) and
            multiple inositol-polyphosphate phosphatase 1 (MINPP1)
            dephosphorylation to improve their proliferation
  JOURNAL   Biochem J 450 (1), 115-125 (2013)
   PUBMED   23186306
  REMARK    GeneRIF: By RNA knockdown, we identified secreted and lysosome
            targeted MINPP1 (multiple inositol-polyphosphate phosphatase 1),
            the mammalian 3-phytase, to be essentially involved both in
            extracellular and in lysosomal InsP6 dephosphorylation
REFERENCE   6  (residues 1 to 487)
  AUTHORS   Gimm O, Chi H, Dahia PL, Perren A, Hinze R, Komminoth P, Dralle H,
            Reynolds PR and Eng C.
  TITLE     Somatic mutation and germline variants of MINPP1, a phosphatase
            gene located in proximity to PTEN on 10q23.3, in follicular thyroid
            carcinomas
  JOURNAL   J Clin Endocrinol Metab 86 (4), 1801-1805 (2001)
   PUBMED   11297621
REFERENCE   7  (residues 1 to 487)
  AUTHORS   Chi H, Yang X, Kingsley PD, O'Keefe RJ, Puzas JE, Rosier RN, Shears
            SB and Reynolds PR.
  TITLE     Targeted deletion of Minpp1 provides new insight into the activity
            of multiple inositol polyphosphate phosphatase in vivo
  JOURNAL   Mol Cell Biol 20 (17), 6496-6507 (2000)
   PUBMED   10938126
REFERENCE   8  (residues 1 to 487)
  AUTHORS   Chi H, Tiller GE, Dasouki MJ, Romano PR, Wang J, O'keefe RJ, Puzas
            JE, Rosier RN and Reynolds PR.
  TITLE     Multiple inositol polyphosphate phosphatase: evolution as a
            distinct group within the histidine phosphatase family and
            chromosomal localization of the human and mouse genes to
            chromosomes 10q23 and 19
  JOURNAL   Genomics 56 (3), 324-336 (1999)
   PUBMED   10087200
REFERENCE   9  (residues 1 to 487)
  AUTHORS   Caffrey JJ, Hidaka K, Matsuda M, Hirata M and Shears SB.
  TITLE     The human and rat forms of multiple inositol polyphosphate
            phosphatase: functional homology with a histidine acid phosphatase
            up-regulated during endochondral ossification
  JOURNAL   FEBS Lett 442 (1), 99-104 (1999)
   PUBMED   9923613
REFERENCE   10 (residues 1 to 487)
  AUTHORS   Romano PR, Wang J, O'Keefe RJ, Puzas JE, Rosier RN and Reynolds PR.
  TITLE     HiPER1, a phosphatase of the endoplasmic reticulum with a role in
            chondrocyte maturation
  JOURNAL   J Cell Sci 111 (Pt 6), 803-813 (1998)
   PUBMED   9472008
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355334.26, BC032504.1 and AW243689.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 4, 2002 this sequence version replaced NP_004888.1.
            
            Summary: This gene encodes multiple inositol polyphosphate
            phosphatase; an enzyme that removes 3-phosphate from inositol
            phosphate substrates. It is the only enzyme known to hydrolzye
            inositol pentakisphosphate and inositol hexakisphosphate. This
            enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to
            2-phosphoglycerate; an activity formerly thought to be exclusive to
            2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering
            shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.209324.1,
                                           SRR1660807.137017.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371996.9/ ENSP00000361064.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..487
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.2"
     Protein         1..487
                     /product="multiple inositol polyphosphate phosphatase 1
                     isoform 1 precursor"
                     /EC_number="3.1.3.62"
                     /EC_number="3.1.3.80"
                     /note="multiple inositol polyphosphate phosphatase 2;
                     multiple inositol polyphosphate histidine phosphatase, 1;
                     inositol (1,3,4,5)-tetrakisphosphate 3-phosphatase;
                     ins(1,3,4,5)P(4) 3-phosphatase; 2,3-BPG phosphatase;
                     2,3-bisphosphoglycerate 3-phosphatase"
                     /calculated_mol_wt=52101
     sig_peptide     1..30
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2969
     Region          82..436
                     /region_name="HP_HAP_like"
                     /note="Histidine phosphatase domain found in histidine
                     acid phosphatases and phytases; contains a His residue
                     which is phosphorylated during the reaction; cd07061"
                     /db_xref="CDD:132717"
     Site            order(88..89,92,186,370..371)
                     /site_type="active"
                     /note="catalytic core [active]"
                     /db_xref="CDD:132717"
     Site            242
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (Q9UNW1.1)"
     Site            481
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UNW1.1)"
     Region          484..487
                     /region_name="Prevents secretion from ER.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU10138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UNW1.1)"
     CDS             1..487
                     /gene="MINPP1"
                     /gene_synonym="HIPER1; MINPP2; MIPP; PCH16"
                     /coded_by="NM_004897.5:24..1487"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS7384.1"
                     /db_xref="GeneID:9562"
                     /db_xref="HGNC:HGNC:7102"
                     /db_xref="MIM:605391"
ORIGIN      
        1 mlrapgcllr tsvapaaala aallsslarc slleprdpva sslspyfgtk tryedvnpvl
       61 lsgpeapwrd pellegtctp vqlvalirhg tryptvkqir klrqlhgllq argsrdggas
      121 stgsrdlgaa ladwplwyad wmdgqlvekg rqdmrqlalr laslfpalfs renygrlrli
      181 tsskhrcmds saaflqglwq hyhpglpppd vadmefgppt vndklmrffd hcekflteve
      241 knatalyhve afktgpemqn ilkkvaatlq vpvndlnadl iqvafftcsf dlaikgvksp
      301 wcdvfdidda kvleylndlk qywkrgygyt insrssctlf qdifqhldka veqkqrsqpi
      361 sspvilqfgh aetllpllsl mgyfkdkepl taynykkqmh rkfrsglivp yasnlifvly
      421 hcenaktpke qfrvqmllne kvlplaysqe tvsfyedlkn hykdilqscq tseecelara
      481 nstsdel
//
LOCUS       NP_068804                257 aa            linear   PRI 24-DEC-2022
DEFINITION  nuclear receptor subfamily 0 group B member 2 [Homo sapiens].
ACCESSION   NP_068804
VERSION     NP_068804.1
DBSOURCE    REFSEQ: accession NM_021969.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 257)
  AUTHORS   Bayram M, Irak K, Cifci S, Koksal AR, Kazezoglu C, Acar Z, Ozari HO
            and Alkim H.
  TITLE     The effectiveness of small heterodimer partner and FGF 19 levels in
            prediction of perinatal morbidity in intrahepatic cholestasis of
            pregnancy
  JOURNAL   J Obstet Gynaecol 42 (5), 1174-1178 (2022)
   PUBMED   35156505
  REMARK    GeneRIF: The effectiveness of small heterodimer partner and FGF 19
            levels in prediction of perinatal morbidity in intrahepatic
            cholestasis of pregnancy.
REFERENCE   2  (residues 1 to 257)
  AUTHORS   Wu J, Nagy LE and Wang L.
  TITLE     The long and the small collide: LncRNAs and small heterodimer
            partner (SHP) in liver disease
  JOURNAL   Mol Cell Endocrinol 528, 111262 (2021)
   PUBMED   33781837
  REMARK    GeneRIF: The long and the small collide: LncRNAs and small
            heterodimer partner (SHP) in liver disease.
            Review article
REFERENCE   3  (residues 1 to 257)
  AUTHORS   Kumar S, Vijayan R, Dash AK, Gourinath S and Tyagi RK.
  TITLE     Nuclear receptor SHP dampens transcription function and abrogates
            mitotic chromatin association of PXR and ERalpha via intermolecular
            interactions
  JOURNAL   Biochim Biophys Acta Gene Regul Mech 1864 (3), 194683 (2021)
   PUBMED   33444783
  REMARK    GeneRIF: Nuclear receptor SHP dampens transcription function and
            abrogates mitotic chromatin association of PXR and ERalpha via
            intermolecular interactions.
REFERENCE   4  (residues 1 to 257)
  AUTHORS   Lam KK, Sethi R, Tan G, Tomar S, Lo M, Loi C, Tang CL, Tan E, Lai
            PS and Cheah PY.
  TITLE     The orphan nuclear receptor NR0B2 could be a novel susceptibility
            locus associated with microsatellite-stable, APC mutation-negative
            early-onset colorectal carcinomas with metabolic manifestation
  JOURNAL   Genes Chromosomes Cancer 60 (2), 61-72 (2021)
   PUBMED   33094510
  REMARK    GeneRIF: The orphan nuclear receptor NR0B2 could be a novel
            susceptibility locus associated with microsatellite-stable, APC
            mutation-negative early-onset colorectal carcinomas with metabolic
            manifestation.
REFERENCE   5  (residues 1 to 257)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (residues 1 to 257)
  AUTHORS   Johansson L, Bavner A, Thomsen JS, Farnegardh M, Gustafsson JA and
            Treuter E.
  TITLE     The orphan nuclear receptor SHP utilizes conserved LXXLL-related
            motifs for interactions with ligand-activated estrogen receptors
  JOURNAL   Mol Cell Biol 20 (4), 1124-1133 (2000)
   PUBMED   10648597
REFERENCE   7  (residues 1 to 257)
  AUTHORS   Lee YK, Dell H, Dowhan DH, Hadzopoulou-Cladaras M and Moore DD.
  TITLE     The orphan nuclear receptor SHP inhibits hepatocyte nuclear factor
            4 and retinoid X receptor transactivation: two mechanisms for
            repression
  JOURNAL   Mol Cell Biol 20 (1), 187-195 (2000)
   PUBMED   10594021
REFERENCE   8  (residues 1 to 257)
  AUTHORS   Seol W, Hanstein B, Brown M and Moore DD.
  TITLE     Inhibition of estrogen receptor action by the orphan receptor SHP
            (short heterodimer partner)
  JOURNAL   Mol Endocrinol 12 (10), 1551-1557 (1998)
   PUBMED   9773978
REFERENCE   9  (residues 1 to 257)
  AUTHORS   Lee HK, Lee YK, Park SH, Kim YS, Park SH, Lee JW, Kwon HB, Soh J,
            Moore DD and Choi HS.
  TITLE     Structure and expression of the orphan nuclear receptor SHP gene
  JOURNAL   J Biol Chem 273 (23), 14398-14402 (1998)
   PUBMED   9603951
REFERENCE   10 (residues 1 to 257)
  AUTHORS   Seol W, Choi HS and Moore DD.
  TITLE     An orphan nuclear hormone receptor that lacks a DNA binding domain
            and heterodimerizes with other receptors
  JOURNAL   Science 272 (5266), 1336-1339 (1996)
   PUBMED   8650544
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AI457167.1 and BC030207.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is an unusual orphan
            receptor that contains a putative ligand-binding domain but lacks a
            conventional DNA-binding domain. The gene product is a member of
            the nuclear hormone receptor family, a group of transcription
            factors regulated by small hydrophobic hormones, a subset of which
            do not have known ligands and are referred to as orphan nuclear
            receptors. The protein has been shown to interact with retinoid and
            thyroid hormone receptors, inhibiting their ligand-dependent
            transcriptional activation. In addition, interaction with estrogen
            receptors has been demonstrated, leading to inhibition of function.
            Studies suggest that the protein represses nuclear hormone
            receptor-mediated transactivation via two separate steps:
            competition with coactivators and the direct effects of its
            transcriptional repressor function. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC030207.1, BU156944.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000254227.4/ ENSP00000254227.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..257
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     Protein         1..257
                     /product="nuclear receptor subfamily 0 group B member 2"
                     /note="orphan nuclear receptor SHP; small heterodimer
                     partner"
                     /calculated_mol_wt=27927
     Region          32..254
                     /region_name="NR_LBD_SHP"
                     /note="The ligand binding domain of DAX1 protein, a
                     nuclear receptor lacking DNA binding domain; cd07349"
                     /db_xref="CDD:132763"
     Site            order(54..55,59,93,97,100,115,146)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:132763"
     Site            57
                     /site_type="methylation"
                     /note="Symmetric dimethylarginine, by PRMT5.
                     /evidence=ECO:0000250|UniProtKB:Q62227; propagated from
                     UniProtKB/Swiss-Prot (Q15466.2)"
     Site            order(64,67,71,76,81..82,84..85,88..89,247,250)
                     /site_type="active"
                     /note="putative coactivator recognition site [active]"
                     /db_xref="CDD:132763"
     Site            order(72..75,77..78,80,185..187,194)
                     /site_type="other"
                     /note="heterotrimer interface [polypeptide binding]"
                     /db_xref="CDD:132763"
     CDS             1..257
                     /gene="NR0B2"
                     /gene_synonym="SHP; SHP1"
                     /coded_by="NM_021969.3:36..809"
                     /db_xref="CCDS:CCDS291.1"
                     /db_xref="GeneID:8431"
                     /db_xref="HGNC:HGNC:7961"
                     /db_xref="MIM:604630"
ORIGIN      
        1 mstsqpgacp cqgaasrpai lyallssslk avprprsrcl crqhrpvqlc aphrtcreal
       61 dvlaktvafl rnlpsfwqlp pqdqrrllqg cwgplfllgl aqdavtfeva eapvpsilkk
      121 illeepsssg gsgqlpdrpq pslaavqwlq cclesfwsle lspkeyaclk gtilfnpdvp
      181 glqaashigh lqqeahwvlc evlepwcpaa qgrltrvllt astlksipts llgdlffrpi
      241 igdvdiagll gdmlllr
//
LOCUS       NP_001340939             551 aa            linear   PRI 24-DEC-2022
DEFINITION  cystathionine beta-synthase isoform a [Homo sapiens].
ACCESSION   NP_001340939 XP_016883706
VERSION     NP_001340939.1
DBSOURCE    REFSEQ: accession NM_001354010.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 551)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 551)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 551)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 551)
  AUTHORS   Kumar A, Wissbrock A, Goradia N, Bellstedt P, Ramachandran R, Imhof
            D and Ohlenschlager O.
  TITLE     Heme interaction of the intrinsically disordered N-terminal peptide
            segment of human cystathionine-beta-synthase
  JOURNAL   Sci Rep 8 (1), 2474 (2018)
   PUBMED   29410458
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 551)
  AUTHORS   Wei X, Das J, Fragoza R, Liang J, Bastos de Oliveira FM, Lee HR,
            Wang X, Mort M, Stenson PD, Cooper DN, Lipkin SM, Smolka MB and Yu
            H.
  TITLE     A massively parallel pipeline to clone DNA variants and examine
            molecular phenotypes of human disease mutations
  JOURNAL   PLoS Genet 10 (12), e1004819 (2014)
   PUBMED   25502805
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 551)
  AUTHORS   Kabil O, Zhou Y and Banerjee R.
  TITLE     Human cystathionine beta-synthase is a target for sumoylation
  JOURNAL   Biochemistry 45 (45), 13528-13536 (2006)
   PUBMED   17087506
REFERENCE   7  (residues 1 to 551)
  AUTHORS   Hu YH, Warnatz HJ, Vanhecke D, Wagner F, Fiebitz A, Thamm S, Kahlem
            P, Lehrach H, Yaspo ML and Janitz M.
  TITLE     Cell array-based intracellular localization screening reveals novel
            functional features of human chromosome 21 proteins
  JOURNAL   BMC Genomics 7, 155 (2006)
   PUBMED   16780588
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 551)
  AUTHORS   Chen X, Jhee KH and Kruger WD.
  TITLE     Production of the neuromodulator H2S by cystathionine beta-synthase
            via the condensation of cysteine and homocysteine
  JOURNAL   J Biol Chem 279 (50), 52082-52086 (2004)
   PUBMED   15520012
REFERENCE   9  (residues 1 to 551)
  AUTHORS   Meier M, Janosik M, Kery V, Kraus JP and Burkhard P.
  TITLE     Structure of human cystathionine beta-synthase: a unique pyridoxal
            5'-phosphate-dependent heme protein
  JOURNAL   EMBO J 20 (15), 3910-3916 (2001)
   PUBMED   11483494
REFERENCE   10 (residues 1 to 551)
  AUTHORS   Kery V, Bukovska G and Kraus JP.
  TITLE     Transsulfuration depends on heme in addition to pyridoxal
            5'-phosphate. Cystathionine beta-synthase is a heme protein
  JOURNAL   J Biol Chem 269 (41), 25283-25288 (1994)
   PUBMED   7929220
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            FP236240.8.
            On Aug 3, 2017 this sequence version replaced XP_016883706.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.NM_001354010 is annotated on a
            scaffold that is thought to be a false duplication and thus this
            accession is possibly redundant with other RefSeq accessions.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.77088.1,
                                           SRR1660803.161076.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21p12"
     Protein         1..551
                     /product="cystathionine beta-synthase isoform a"
                     /EC_number="4.2.1.22"
                     /note="beta-thionase; serine sulfhydrase; cystathionine
                     beta-synthase-like protein"
                     /calculated_mol_wt=60456
     Region          1..74
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35520.2)"
     Site            27
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P35520.2)"
     Region          76..544
                     /region_name="cysta_beta"
                     /note="cystathionine beta-synthase; TIGR01137"
                     /db_xref="CDD:273464"
     Site            199
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P35520.2)"
     CDS             1..551
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /coded_by="NM_001354010.1:261..1916"
                     /note="isoform a is encoded by transcript variant 6"
                     /db_xref="GeneID:102724560"
ORIGIN      
        1 mpsetpqaev gptgcphrsg phsakgslek gspedkeake plwirpdaps rctwqlgrpa
       61 sesphhhtap akspkilpdi lkkigdtpmv rinkigkkfg lkcellakce ffnaggsvkd
      121 rislrmieda erdgtlkpgd tiieptsgnt giglalaaav rgyrciivmp ekmssekvdv
      181 lralgaeivr tptnarfdsp eshvgvawrl kneipnshil dqyrnasnpl ahydttadei
      241 lqqcdgkldm lvasvgtggt itgiarklke kcpgcriigv dpegsilaep eelnqteqtt
      301 yevegigydf iptvldrtvv dkwfksndee aftfarmlia qegllcggsa gstvavavka
      361 aqelqegqrc vvilpdsvrn ymtkflsdrw mlqkgflkee dltekkpwww hlrvqelgls
      421 apltvlptit cghtieilre kgfdqapvvd eagvilgmvt lgnmlsslla gkvqpsdqvg
      481 kviykqfkqi rltdtlgrls hilemdhfal vvheqiqyhs tgkssqrqmv fgvvtaidll
      541 nfvaaqerdq k
//
LOCUS       NP_001357446             225 aa            linear   PRI 25-DEC-2022
DEFINITION  phosphoserine phosphatase [Homo sapiens].
ACCESSION   NP_001357446
VERSION     NP_001357446.1
DBSOURCE    REFSEQ: accession NM_001370517.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 225)
  AUTHORS   Rawat V, Malvi P, Della Manna D, Yang ES, Bugide S, Zhang X, Gupta
            R and Wajapeyee N.
  TITLE     PSPH promotes melanoma growth and metastasis by metabolic
            deregulation-mediated transcriptional activation of NR4A1
  JOURNAL   Oncogene 40 (13), 2448-2462 (2021)
   PUBMED   33674745
  REMARK    GeneRIF: PSPH promotes melanoma growth and metastasis by metabolic
            deregulation-mediated transcriptional activation of NR4A1.
REFERENCE   2  (residues 1 to 225)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 225)
  AUTHORS   Park SM, Seo EH, Bae DH, Kim SS, Kim J, Lin W, Kim KH, Park JB, Kim
            YS, Yin J and Kim SY.
  TITLE     Phosphoserine Phosphatase Promotes Lung Cancer Progression through
            the Dephosphorylation of IRS-1 and a Noncanonical
            L-Serine-Independent Pathway
  JOURNAL   Mol Cells 42 (8), 604-616 (2019)
   PUBMED   31446747
  REMARK    GeneRIF: a specific interaction between PSPH and IRS1 and the
            dephosphorylation of phospho-IRS-1 by PSPH in lung cancer cells,
            was identified.
REFERENCE   4  (residues 1 to 225)
  AUTHORS   Haufroid M, Mirgaux M, Leherte L and Wouters J.
  TITLE     Crystal structures and snapshots along the reaction pathway of
            human phosphoserine phosphatase
  JOURNAL   Acta Crystallogr D Struct Biol 75 (Pt 6), 592-604 (2019)
   PUBMED   31205021
  REMARK    GeneRIF: three new high-resolution crystal structures of hPSP
            (1.5-2.0 A) in complexes with phosphoserine and with serine, which
            are the substrate and the product of the reaction, respectively,
            and in complex with a noncleavable substrate analogue (homocysteic
            acid) are presented.
REFERENCE   5  (residues 1 to 225)
  AUTHORS   Liao L, Ge M, Zhan Q, Huang R, Ji X, Liang X and Zhou X.
  TITLE     PSPH Mediates the Metastasis and Proliferation of Non-small Cell
            Lung Cancer through MAPK Signaling Pathways
  JOURNAL   Int J Biol Sci 15 (1), 183-194 (2019)
   PUBMED   30662358
  REMARK    GeneRIF: The results suggest that PSPH may act as a putative
            oncogene and a potential therapeutic target in NSCLC.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 225)
  AUTHORS   Veeranna and Shetty KT.
  TITLE     Phosphoserine phosphatase of human brain: partial purification,
            characterization, regional distribution, and effect of certain
            modulators including psychoactive drugs
  JOURNAL   Neurochem Res 15 (12), 1203-1210 (1990)
   PUBMED   1965857
REFERENCE   7  (residues 1 to 225)
  AUTHORS   Minelli A, Piantanida M, Maserati E, Campagnoli E, Pasquali F and
            Danesino C.
  TITLE     Gene dosage effect in acquired monosomy 7: distinct behaviour of
            beta-glucuronidase and phosphoserine phosphatase
  JOURNAL   Genes Chromosomes Cancer 1 (3), 216-220 (1990)
   PUBMED   1964582
REFERENCE   8  (residues 1 to 225)
  AUTHORS   Novelli G and Dallapiccola B.
  TITLE     Gene dosage studies regionally assign the phosphoserine phosphatase
            gene to 7p15.1 or 2
  JOURNAL   Ann Genet 31 (3), 195-196 (1988)
   PUBMED   2851960
REFERENCE   9  (residues 1 to 225)
  AUTHORS   Koch,G.A., Eddy,R.L., Haley,L.L., Byers,M.G., McAvoy,M. and
            Shows,T.B.
  TITLE     Assignment of the human phosphoserine phosphatase gene (PSP) to the
            pter leads to q22 region of chromosome 7
  JOURNAL   Cytogenet Cell Genet 35 (1), 67-69 (1983)
   PUBMED   6297854
REFERENCE   10 (residues 1 to 225)
  AUTHORS   Moro-Furlani,A.M., Turner,V.S. and Hopkinson,D.A.
  TITLE     Genetical and biochemical studies on human phosphoserine
            phosphatase
  JOURNAL   Ann Hum Genet 43 (4), 323-333 (1980)
   PUBMED   6249179
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092579.3.
            
            Summary: The protein encoded by this gene belongs to a subfamily of
            the phosphotransferases. This encoded enzyme is responsible for the
            third and last step in L-serine formation. It catalyzes
            magnesium-dependent hydrolysis of L-phosphoserine and is also
            involved in an exchange reaction between L-serine and
            L-phosphoserine. Deficiency of this protein is thought to be linked
            to Williams syndrome. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.214080.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..225
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p11.2"
     Protein         1..225
                     /product="phosphoserine phosphatase"
                     /EC_number="3.1.3.3"
                     /note="L-3-phosphoserine phosphatase; O-phosphoserine
                     phosphohydrolase; PSPase"
                     /calculated_mol_wt=24877
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P78330.2)"
     Region          15..216
                     /region_name="HAD_PSP_eu"
                     /note="phosphoserine phosphatase eukaryotic-like, similar
                     to human phosphoserine phosphatase; cd04309"
                     /db_xref="CDD:319801"
     Site            order(20..24,29,109..110,158,178..179,182..183)
                     /site_type="active"
                     /db_xref="CDD:319801"
     CDS             1..225
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /coded_by="NM_001370517.1:1018..1695"
                     /db_xref="CCDS:CCDS5522.1"
                     /db_xref="GeneID:5723"
                     /db_xref="HGNC:HGNC:9577"
                     /db_xref="MIM:172480"
ORIGIN      
        1 mvshselrkl fysadavcfd vdstvireeg idelakicgv edavsemtrr amggavpfka
       61 alterlaliq psreqvqrli aeqpphltpg irelvsrlqe rnvqvflisg gfrsivehva
      121 sklnipatnv fanrlkfyfn geyagfdetq ptaesggkgk vikllkekfh fkkiimigdg
      181 atdmeacppa dafigfggnv irqqvkdnak wyitdfvell gelee
//
LOCUS       NP_001341116             877 aa            linear   PRI 26-DEC-2022
DEFINITION  protein bicaudal D homolog 1 isoform 4 [Homo sapiens].
ACCESSION   NP_001341116
VERSION     NP_001341116.1
DBSOURCE    REFSEQ: accession NM_001354187.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 877)
  AUTHORS   Jiang Y, Yao B, Chen T, Mo H, Chen S, Liu Q and Sun Y.
  TITLE     BICD1 functions as a prognostic biomarker and promotes
            hepatocellular carcinoma progression
  JOURNAL   Pathol Res Pract 216 (4), 152858 (2020)
   PUBMED   32088084
  REMARK    GeneRIF: BICD1 functions as a prognostic biomarker and promotes
            hepatocellular carcinoma progression.
REFERENCE   2  (residues 1 to 877)
  AUTHORS   Kim HJ, Seo YS, Sung J, Chae J, Yun JM, Kwon H, Cho B, Kim JI and
            Park JH.
  TITLE     A genome-wide by PM10 interaction study identifies novel loci for
            lung function near BICD1 and IL1RN-IL1F10 genes in Korean adults
  JOURNAL   Chemosphere 245, 125581 (2020)
   PUBMED   31846791
  REMARK    GeneRIF: BICD1 genes may contribute to the decrease in forced vital
            capacity levels by interacting with PM10 exposure
REFERENCE   3  (residues 1 to 877)
  AUTHORS   Atkins M, Gasmi L, Bercier V, Revenu C, Del Bene F, Hazan J and
            Fassier C.
  TITLE     FIGNL1 associates with KIF1Bbeta and BICD1 to restrict dynein
            transport velocity during axon navigation
  JOURNAL   J Cell Biol 218 (10), 3290-3306 (2019)
   PUBMED   31541015
  REMARK    GeneRIF: The disrupting Bicd1/Fignl1 interaction induced motor axon
            pathfinding defects characteristic of Fignl1 gain or loss of
            function, respectively.
REFERENCE   4  (residues 1 to 877)
  AUTHORS   Lee HJ, Jung YH, Oh JY, Choi GE, Chae CW, Kim JS, Lim JR, Kim SY,
            Lee SJ, Seong JK and Han HJ.
  TITLE     BICD1 mediates HIF1alpha nuclear translocation in mesenchymal stem
            cells during hypoxia adaptation
  JOURNAL   Cell Death Differ 26 (9), 1716-1734 (2019)
   PUBMED   30464225
  REMARK    GeneRIF: BICD1 mediates HIF1alpha nuclear translocation in
            mesenchymal stem cells during hypoxia adaptation.
REFERENCE   5  (residues 1 to 877)
  AUTHORS   Hoogenraad CC and Akhmanova A.
  TITLE     Bicaudal D Family of Motor Adaptors: Linking Dynein Motility to
            Cargo Binding
  JOURNAL   Trends Cell Biol 26 (5), 327-340 (2016)
   PUBMED   26822037
  REMARK    Review article
REFERENCE   6  (residues 1 to 877)
  AUTHORS   Tomsig JL, Snyder SL and Creutz CE.
  TITLE     Identification of targets for calcium signaling through the copine
            family of proteins. Characterization of a coiled-coil
            copine-binding motif
  JOURNAL   J Biol Chem 278 (12), 10048-10054 (2003)
   PUBMED   12522145
REFERENCE   7  (residues 1 to 877)
  AUTHORS   Matanis T, Akhmanova A, Wulf P, Del Nery E, Weide T, Stepanova T,
            Galjart N, Grosveld F, Goud B, De Zeeuw CI, Barnekow A and
            Hoogenraad CC.
  TITLE     Bicaudal-D regulates COPI-independent Golgi-ER transport by
            recruiting the dynein-dynactin motor complex
  JOURNAL   Nat Cell Biol 4 (12), 986-992 (2002)
   PUBMED   12447383
  REMARK    Erratum:[Nat Cell Biol. 2003 Jan;5(1):84.]
REFERENCE   8  (residues 1 to 877)
  AUTHORS   Short B, Preisinger C, Schaletzky J, Kopajtich R and Barr FA.
  TITLE     The Rab6 GTPase regulates recruitment of the dynactin complex to
            Golgi membranes
  JOURNAL   Curr Biol 12 (20), 1792-1795 (2002)
   PUBMED   12401177
REFERENCE   9  (residues 1 to 877)
  AUTHORS   Baens M and Marynen P.
  TITLE     A human homologue (BICD1) of the Drosophila bicaudal-D gene
  JOURNAL   Genomics 45 (3), 601-606 (1997)
   PUBMED   9367685
REFERENCE   10 (residues 1 to 877)
  AUTHORS   Baens M, Aerssens J, van Zand K, Van den Berghe H and Marynen P.
  TITLE     Isolation and regional assignment of human chromosome 12p cDNAs
  JOURNAL   Genomics 29 (1), 44-52 (1995)
   PUBMED   8530100
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC048344.44, AC016954.43,
            AC026356.29 and AC087245.29.
            
            Summary: This gene encodes an adaptor protein that belongs to the
            bicaudal D family of dynein cargo adaptors. The encoded protein
            acts as an intracellular cargo transport cofactor that regulates
            the microtubule-based loading of cargo onto the dynein motor
            complex. It also controls dynein motor activity and coordination.
            It has a domain architecture consisting of coiled-coil domains at
            the N- and C-termini that are highly conserved in other family
            members. Naturally occurring mutations in this gene are associated
            with short telomere length and emphysema. [provided by RefSeq, Aug
            2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.261287.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145245, SAMEA2146411
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..877
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     Protein         1..877
                     /product="protein bicaudal D homolog 1 isoform 4"
                     /note="cytoskeleton-like bicaudal D protein homolog 1;
                     bicaudal D homolog 1"
                     /calculated_mol_wt=99950
     Region          74..799
                     /region_name="BicD"
                     /note="Microtubule-associated protein Bicaudal-D;
                     pfam09730"
                     /db_xref="CDD:430782"
     CDS             1..877
                     /gene="BICD1"
                     /gene_synonym="bic-D 1; BICD"
                     /coded_by="NM_001354187.2:486..3119"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:636"
                     /db_xref="HGNC:HGNC:1049"
                     /db_xref="MIM:602204"
ORIGIN      
        1 maaeevlqtv dhykteierl tkeltetthe kiqaaeyglv vleekltlkq qydeleaeyd
       61 slkqeleqlk eafgqsfsih rkvaedgetr eetllqesas keayylgkil emqnelkqsr
      121 avvtnvqaen erltavvqdl kennemvelq rirmkdeire ykfrearllq dyteleeeni
      181 tlqklvstlk qnqveyeglk heikrfeeet vllnsqleda irlkeiaehq leealetlkn
      241 ereqknnlrk elsqyislnd nhisisvdgl kfaedgsepn nddkmnghih gplvklngdy
      301 rtptlrkges lnpvsdlfse lniseiqklk qqlmqverek aillanlqes qtqlehtkga
      361 lteqhervhr ltehvnamrg lqsskelkae ldgekgrdsg eeahdyevdi ngleilecky
      421 rvavtevidl kaeikalkek ynksvenytd ekakyeskiq mydeqvtsle kttkesgekm
      481 ahmekelqkm tsianenhst lntaqdelvt fseelaqlyh hvclcnnetp nrvmldyyrq
      541 srvtrsgslk gpddprglls prlarrgvss pvetrtssep vakesteask epsptktpti
      601 spvitappss pvldtsdirk epmniynlna iirdqikhlq kavdrslqls rqraaarela
      661 pmidkdkeal meeilklksl lstkreqiat lravlkankq taevalanlk nkyenekamv
      721 tetmtklrne lkalkedaat fsslramfat rcdeyvtqld emqrqlaaae dekktlntll
      781 rmaiqqklal tqrledlefd heqsrrskgk lgkskigspk flvdcqqpaa svppqcsqla
      841 grqdcptvsp dtalpeeqph sssqcaplhc lskpphp
//
LOCUS       NP_001308119             429 aa            linear   PRI 26-DEC-2022
DEFINITION  ruvB-like 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001308119 XP_005258484
VERSION     NP_001308119.1
DBSOURCE    REFSEQ: accession NM_001321190.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 429)
  AUTHORS   Goos H, Kinnunen M, Salokas K, Tan Z, Liu X, Yadav L, Zhang Q, Wei
            GH and Varjosalo M.
  TITLE     Human transcription factor protein interaction networks
  JOURNAL   Nat Commun 13 (1), 766 (2022)
   PUBMED   35140242
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 429)
  AUTHORS   Nakamura A, Kakihara Y, Funayama A, Haga K, Mikami T, Kobayashi D,
            Yoshida Y, Izumi K, Kobayashi T and Saeki M.
  TITLE     HEATR1, a novel interactor of Pontin/Reptin, stabilizes
            Pontin/Reptin and promotes cell proliferation of oral squamous cell
            carcinoma
  JOURNAL   Biochem Biophys Res Commun 557, 294-301 (2021)
   PUBMED   33894417
  REMARK    GeneRIF: HEATR1, a novel interactor of Pontin/Reptin, stabilizes
            Pontin/Reptin and promotes cell proliferation of oral squamous cell
            carcinoma.
REFERENCE   3  (residues 1 to 429)
  AUTHORS   Gkotinakou IM, Befani C, Samiotaki M, Panayotou G and Liakos P.
  TITLE     Novel HIF-2alpha interaction with Reptin52 impairs HIF-2
            transcriptional activity and EPO secretion
  JOURNAL   Biochem Biophys Res Commun 557, 143-150 (2021)
   PUBMED   33865222
  REMARK    GeneRIF: Novel HIF-2alpha interaction with Reptin52 impairs HIF-2
            transcriptional activity and EPO secretion.
REFERENCE   4  (residues 1 to 429)
  AUTHORS   Wang Y, Zhou J, Mackintosh SG and Du Y.
  TITLE     RuvB-Like Protein 2 Interacts with the NS1 Protein of Influenza A
            Virus and Affects Apoptosis That Is Counterbalanced by Type I
            Interferons
  JOURNAL   Viruses 13 (6), 1038 (2021)
   PUBMED   34072766
  REMARK    GeneRIF: RuvB-Like Protein 2 Interacts with the NS1 Protein of
            Influenza A Virus and Affects Apoptosis That Is Counterbalanced by
            Type I Interferons.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 429)
  AUTHORS   Abel Y, Paiva ACF, Bizarro J, Chagot ME, Santo PE, Robert MC,
            Quinternet M, Vandermoere F, Sousa PMF, Fort P, Charpentier B,
            Manival X, Bandeiras TM, Bertrand E and Verheggen C.
  TITLE     NOPCHAP1 is a PAQosome cofactor that helps loading NOP58 on
            RUVBL1/2 during box C/D snoRNP biogenesis
  JOURNAL   Nucleic Acids Res 49 (2), 1094-1113 (2021)
   PUBMED   33367824
  REMARK    GeneRIF: NOPCHAP1 is a PAQosome cofactor that helps loading NOP58
            on RUVBL1/2 during box C/D snoRNP biogenesis.
REFERENCE   6  (residues 1 to 429)
  AUTHORS   Ikura T, Ogryzko VV, Grigoriev M, Groisman R, Wang J, Horikoshi M,
            Scully R, Qin J and Nakatani Y.
  TITLE     Involvement of the TIP60 histone acetylase complex in DNA repair
            and apoptosis
  JOURNAL   Cell 102 (4), 463-473 (2000)
   PUBMED   10966108
REFERENCE   7  (residues 1 to 429)
  AUTHORS   Parfait B, Giovangrandi Y, Asheuer M, Laurendeau I, Olivi M,
            Vodovar N, Vidaud D, Vidaud M and Bieche I.
  TITLE     Human TIP49b/RUVBL2 gene: genomic structure, expression pattern,
            physical link to the human CGB/LHB gene cluster on chromosome
            19q13.3
  JOURNAL   Ann Genet 43 (2), 69-74 (2000)
   PUBMED   10998447
REFERENCE   8  (residues 1 to 429)
  AUTHORS   Wood MA, McMahon SB and Cole MD.
  TITLE     An ATPase/helicase complex is an essential cofactor for oncogenic
            transformation by c-Myc
  JOURNAL   Mol Cell 5 (2), 321-330 (2000)
   PUBMED   10882073
REFERENCE   9  (residues 1 to 429)
  AUTHORS   Salzer U, Kubicek M and Prohaska R.
  TITLE     Isolation, molecular characterization, and tissue-specific
            expression of ECP-51 and ECP-54 (TIP49), two homologous,
            interacting erythroid cytosolic proteins
  JOURNAL   Biochim Biophys Acta 1446 (3), 365-370 (1999)
   PUBMED   10524211
REFERENCE   10 (residues 1 to 429)
  AUTHORS   Kanemaki M, Kurokawa Y, Matsu-ura T, Makino Y, Masani A, Okazaki K,
            Morishita T and Tamura TA.
  TITLE     TIP49b, a new RuvB-like DNA helicase, is included in a complex
            together with another RuvB-like DNA helicase, TIP49a
  JOURNAL   J Biol Chem 274 (32), 22437-22444 (1999)
   PUBMED   10428817
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008687.5 and AK027762.1.
            On Mar 18, 2016 this sequence version replaced XP_005258484.1.
            
            Summary: This gene encodes the second human homologue of the
            bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase
            essential for homologous recombination and DNA double-strand break
            repair. Functional analysis showed that this gene product has both
            ATPase and DNA helicase activities. This gene is physically linked
            to the CGB/LHB gene cluster on chromosome 19q13.3, and is very
            close (55 nt) to the LHB gene, in the opposite orientation.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK027762.1, SRR3476690.537604.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..429
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..429
                     /product="ruvB-like 2 isoform 2"
                     /EC_number="3.6.4.12"
                     /note="RuvB (E coli homolog)-like 2; INO80 complex subunit
                     J; erythrocyte cytosolic protein, 51-KD; repressing pontin
                     52; 48 kDa TBP-interacting protein; TIP60-associated
                     protein 54-beta; 51 kDa erythrocyte cytosolic protein; 48
                     kDa TATA box-binding protein-interacting protein; reptin52
                     protein"
                     /calculated_mol_wt=47273
     Region          9..417
                     /region_name="TIP49"
                     /note="DNA helicase TIP49, TBP-interacting protein
                     [Transcription]; COG1224"
                     /db_xref="CDD:224145"
     CDS             1..429
                     /gene="RUVBL2"
                     /gene_synonym="CGI-46; ECP-51; ECP51; INO80J; REPTIN;
                     RVB2; TAP54-beta; TIH2; TIP48; TIP49B"
                     /coded_by="NM_001321190.2:198..1487"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:10856"
                     /db_xref="HGNC:HGNC:10475"
                     /db_xref="MIM:604788"
ORIGIN      
        1 mcashpqasq gmvgqlaarr aagvvlemir egkiagravl iagqpgtgkt aiamgmaqal
       61 gpdtpftaia gseifslems ktealtqafr rsigvrikee teiiegevve iqidrpatgt
      121 gskvgkltlk ttemetiydl gtkmiesltk dkvqagdvit idkatgkisk lgrsftrard
      181 ydamgsqtkf vqcpdgelqk rkevvhtvsl heidvinsrt qgflalfsgd tgeiksevre
      241 qinakvaewr eegkaeiipg vlfidevhml diesfsflnr alesdmapvl imatnrgitr
      301 irgtsyqsph gipidlldrl livsttpyse kdtkqilrir ceeedvemse daytvltrig
      361 letslryaiq litaaslvcr krkgtevqvd dikrvyslfl desrstqymk eyqdaflfne
      421 lkgetmdts
//
LOCUS       NP_001305456             115 aa            linear   PRI 26-DEC-2022
DEFINITION  trafficking protein particle complex subunit 2-like protein isoform
            5 [Homo sapiens].
ACCESSION   NP_001305456
VERSION     NP_001305456.1
DBSOURCE    REFSEQ: accession NM_001318527.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 115)
  AUTHORS   Al-Deri N, Okur V, Ahimaz P, Milev M, Valivullah Z, Hagen J, Sheng
            Y, Chung W, Sacher M and Ganapathi M.
  TITLE     A novel homozygous variant in TRAPPC2L results in a
            neurodevelopmental disorder and disrupts TRAPP complex function
  JOURNAL   J Med Genet 58 (9), 592-601 (2021)
   PUBMED   32843486
  REMARK    GeneRIF: A novel homozygous variant in TRAPPC2L results in a
            neurodevelopmental disorder and disrupts TRAPP complex function.
REFERENCE   2  (residues 1 to 115)
  AUTHORS   Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM,
            Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H,
            Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke
            J, Fauth C, Mayr JA, Sacher M and van Hasselt PM.
  TITLE     Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental
            disorder and have an impact on RAB11 in fibroblasts
  JOURNAL   J Med Genet 55 (11), 753-764 (2018)
   PUBMED   30120216
  REMARK    GeneRIF: deleterious bi-allelic variants in TRAPPC2L are associated
            with encephalopathy and febrile illness-induced episodes of
            rhabdomyolysis and subsequent developmental arrest. While the exact
            pathophysiological route deserves further study, our results
            suggest a role for RAB11.
REFERENCE   3  (residues 1 to 115)
  AUTHORS   Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y,
            van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ,
            Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ,
            Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B,
            Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM,
            Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E,
            Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ,
            Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U,
            Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB and
            Roepman R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 115)
  AUTHORS   Kim JJ, Lipatova Z and Segev N.
  TITLE     TRAPP Complexes in Secretion and Autophagy
  JOURNAL   Front Cell Dev Biol 4, 20 (2016)
   PUBMED   27066478
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 115)
  AUTHORS   Oh JH, Rhyu MG, Jung SH, Choi SW, Kim SI and Hong SJ.
  TITLE     Slow overmethylation of housekeeping genes in the body mucosa is
            associated with the risk for gastric cancer
  JOURNAL   Cancer Prev Res (Phila) 7 (6), 585-595 (2014)
   PUBMED   24654229
REFERENCE   6  (residues 1 to 115)
  AUTHORS   Scrivens PJ, Noueihed B, Shahrzad N, Hul S, Brunet S and Sacher M.
  TITLE     C4orf41 and TTC-15 are mammalian TRAPP components with a role at an
            early stage in ER-to-Golgi trafficking
  JOURNAL   Mol Biol Cell 22 (12), 2083-2093 (2011)
   PUBMED   21525244
REFERENCE   7  (residues 1 to 115)
  AUTHORS   Choi C, Davey M, Schluter C, Pandher P, Fang Y, Foster LJ and
            Conibear E.
  TITLE     Organization and assembly of the TRAPPII complex
  JOURNAL   Traffic 12 (6), 715-725 (2011)
   PUBMED   21453443
REFERENCE   8  (residues 1 to 115)
  AUTHORS   Westlake CJ, Baye LM, Nachury MV, Wright KJ, Ervin KE, Phu L,
            Chalouni C, Beck JS, Kirkpatrick DS, Slusarski DC, Sheffield VC,
            Scheller RH and Jackson PK.
  TITLE     Primary cilia membrane assembly is initiated by Rab11 and transport
            protein particle II (TRAPPII) complex-dependent trafficking of
            Rabin8 to the centrosome
  JOURNAL   Proc Natl Acad Sci U S A 108 (7), 2759-2764 (2011)
   PUBMED   21273506
REFERENCE   9  (residues 1 to 115)
  AUTHORS   Garcia SA and Nagai MA.
  TITLE     Transcriptional regulation of bidirectional gene pairs by
            17-beta-estradiol in MCF-7 breast cancer cells
  JOURNAL   Braz J Med Biol Res 44 (2), 112-122 (2011)
   PUBMED   21180879
REFERENCE   10 (residues 1 to 115)
  AUTHORS   Scrivens PJ, Shahrzad N, Moores A, Morin A, Brunet S and Sacher M.
  TITLE     TRAPPC2L is a novel, highly conserved TRAPP-interacting protein
  JOURNAL   Traffic 10 (6), 724-736 (2009)
   PUBMED   19416478
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC105809.1, BX340702.2,
            AK310805.1, BX419849.2, AK307253.1, BC011369.1 and BC017440.1.
            
            Summary: This gene encodes a protein that interacts with the
            tethering factor trafficking protein particle (TRAPP complex).
            TRAPP complexes mediate the contact between vescicles and target
            membranes, and thus, are involved in vescicle-mediated transport of
            proteins and lipids. The encoded protein is related to the X-linked
            trafficking protein particle complex 2. A related pseudogene is
            located on the X chromosome. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (5) differs in the 5' UTR, lacks a
            portion of the 5' coding region and uses an alternate start codon,
            compared to variant 1. It encodes isoform 5, which is shorter and
            has a distinct N-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3153440.1, BX340702.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..115
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     Protein         1..115
                     /product="trafficking protein particle complex subunit
                     2-like protein isoform 5"
                     /note="hematopoietic stem/progenitor cells 176;
                     trafficking protein particle complex subunit 2-like
                     protein; trafficking protein particle complex 2 like"
                     /calculated_mol_wt=12709
     Region          <39..111
                     /region_name="longin-like"
                     /note="Longin-like domains; cl38905"
                     /db_xref="CDD:365781"
     CDS             1..115
                     /gene="TRAPPC2L"
                     /gene_synonym="HSPC176; PERRB"
                     /coded_by="NM_001318527.2:434..781"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:51693"
                     /db_xref="HGNC:HGNC:30887"
                     /db_xref="MIM:610970"
ORIGIN      
        1 mgiscdsrlp hfskvrahrg pstgspcvts afpnqlcryg yvtnskvkfv mvvdssntal
       61 rdneirsmfr klhnsytdvm cnpfynpgdr iqssgsvsls rafdnmvtsm miqvc
//
LOCUS       NP_001180267             306 aa            linear   PRI 27-DEC-2022
DEFINITION  fas apoptotic inhibitory molecule 3 isoform c precursor [Homo
            sapiens].
ACCESSION   NP_001180267
VERSION     NP_001180267.1
DBSOURCE    REFSEQ: accession NM_001193338.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 306)
  AUTHORS   Kubagawa H, Skopnik CM, Al-Qaisi K, Calvert RA, Honjo K, Kubagawa
            Y, Teuber R, Aliabadi PM, Enghard P, Radbruch A and Sutton BJ.
  TITLE     Differences between Human and Mouse IgM Fc Receptor (FcmicroR)
  JOURNAL   Int J Mol Sci 22 (13), 7024 (2021)
   PUBMED   34209905
  REMARK    GeneRIF: Differences between Human and Mouse IgM Fc Receptor
            (FcmicroR).
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 306)
  AUTHORS   Zhang YR, Yu Z, Xiong WJ, Liu XX, Liu HM, Cui R, Wang Q, Chen WM,
            Qiu LG and Yi SH.
  TITLE     TOSO interacts with SYK and enhances BCR pathway activation in
            chronic lymphocytic leukemia
  JOURNAL   Chin Med J (Engl) 133 (17), 2090-2097 (2020)
   PUBMED   32784334
  REMARK    GeneRIF: TOSO interacts with SYK and enhances BCR pathway
            activation in chronic lymphocytic leukemia.
REFERENCE   3  (residues 1 to 306)
  AUTHORS   Jiang J, Wu RH, Zhou HL, Li ZM, Kou D, Deng Z, Dong M and Chen LH.
  TITLE     TGIF2 promotes cervical cancer metastasis by negatively regulating
            FCMR
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (11), 5953-5962 (2020)
   PUBMED   32572908
  REMARK    GeneRIF: TGIF2 promotes cervical cancer metastasis by negatively
            regulating FCMR.
REFERENCE   4  (residues 1 to 306)
  AUTHORS   Nyamboya RA, Sutton BJ and Calvert RA.
  TITLE     Mapping of the binding site for FcmuR in human IgM-Fc
  JOURNAL   Biochim Biophys Acta Proteins Proteom 1868 (1), 140266 (2020)
   PUBMED   31449905
  REMARK    GeneRIF: We conclude that glutamine at position 510 in Cmu4 is
            critical for IgM binding to FcmuR. This will facilitate
            discrimination between the distinct effects of FcmuR interactions
            with soluble IgM and with the IgM BCR.
REFERENCE   5  (residues 1 to 306)
  AUTHORS   Kubagawa H, Carroll MC, Jacob CO, Lang KS, Lee KH, Mak T, McAndrews
            M, Morse HC 3rd, Nolan GP, Ohno H, Richter GH, Seal R, Wang JY,
            Wiestner A and Coligan JE.
  TITLE     Nomenclature of Toso, Fas apoptosis inhibitory molecule 3, and IgM
            FcR
  JOURNAL   J Immunol 194 (9), 4055-4057 (2015)
   PUBMED   25888699
REFERENCE   6  (residues 1 to 306)
  AUTHORS   Pallasch CP, Schulz A, Kutsch N, Schwamb J, Hagist S, Kashkar H,
            Ultsch A, Wickenhauser C, Hallek M and Wendtner CM.
  TITLE     Overexpression of TOSO in CLL is triggered by B-cell receptor
            signaling and associated with progressive disease
  JOURNAL   Blood 112 (10), 4213-4219 (2008)
   PUBMED   18708628
  REMARK    GeneRIF: association with unmutated IgV(H) and the specific
            induction of TOSO via the BCR suggest autoreactive BCR signaling as
            a key mediator of apoptosis resistance in CLL.
            Erratum:[Blood. 2018 May 17;131(20):2272. PMID: 29773545]
REFERENCE   7  (residues 1 to 306)
  AUTHORS   Proto-Siqueira R, Panepucci RA, Careta FP, Lee A, Clear A, Morris
            K, Owen C, Rizzatti EG, Silva WA Jr, Falcao RP, Zago MA and Gribben
            JG.
  TITLE     SAGE analysis demonstrates increased expression of TOSO
            contributing to Fas-mediated resistance in CLL
  JOURNAL   Blood 112 (2), 394-397 (2008)
   PUBMED   18434611
  REMARK    GeneRIF: demonstrated a 5.6-fold increase of TOSO protein in
            circulating CLL cells and lymph nodes
REFERENCE   8  (residues 1 to 306)
  AUTHORS   Sigruener A, Buechler C, Bared SM, Grandl M, Aslanidis C, Ugocsai
            P, Gehrmann M and Schmitz G.
  TITLE     E-LDL upregulates TOSO expression and enhances the survival of
            human macrophages
  JOURNAL   Biochem Biophys Res Commun 359 (3), 723-728 (2007)
   PUBMED   17553462
  REMARK    GeneRIF: enzymatically modified-LDL-generated foam cells are
            protected from cell death most likely through the expression of
            TOSO by a FLIP(L) independent mechanism
REFERENCE   9  (residues 1 to 306)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   10 (residues 1 to 306)
  AUTHORS   Hitoshi Y, Lorens J, Kitada SI, Fisher J, LaBarge M, Ring HZ,
            Francke U, Reed JC, Kinoshita S and Nolan GP.
  TITLE     Toso, a cell surface, specific regulator of Fas-induced apoptosis
            in T cells
  JOURNAL   Immunity 8 (4), 461-471 (1998)
   PUBMED   9586636
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC098935.2, BC006401.2, HM480394.1 and AI524407.1.
            
            Summary: Fc receptors specifically bind to the Fc region of
            immunoglobulins (Igs) to mediate the unique functions of each Ig
            class. FAIM3 encodes an Fc receptor for IgM (see MIM 147020)
            (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010
            [PubMed 20042454]).[supplied by OMIM, Jul 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.95665.1,
                                           SRR1163657.437883.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..306
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     Protein         1..306
                     /product="fas apoptotic inhibitory molecule 3 isoform c
                     precursor"
                     /note="Fc fragment of IgM receptor; IgM Fc receptor;
                     immunoglobulin mu Fc receptor; regulator of Fas-induced
                     apoptosis Toso; Fas apoptotic inhibitory molecule 3; IgM
                     Fc fragment receptor"
                     /calculated_mol_wt=31904
     sig_peptide     1..16
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1942
     Region          24..121
                     /region_name="IgV_pIgR_like"
                     /note="Immunoglobulin (Ig)-like domain in the polymeric Ig
                     receptor (pIgR) and similar proteins; cd05716"
                     /db_xref="CDD:409381"
     Region          24..37
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409381"
     Region          24..29
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409381"
     Region          31..38
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409381"
     Region          38..44
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409381"
     Region          44..49
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409381"
     Site            44..46
                     /site_type="other"
                     /note="CDR1-dIgA binding residues [polypeptide binding]"
                     /db_xref="CDD:409381"
     Region          45..49
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409381"
     Region          50..69
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409381"
     Region          59..63
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409381"
     Region          67..69
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409381"
     Region          75..106
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409381"
     Region          75..81
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409381"
     Region          85..93
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409381"
     Region          99..106
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409381"
     Region          107..115
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409381"
     Region          115..121
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409381"
     Region          115..121
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409381"
     CDS             1..306
                     /gene="FCMR"
                     /gene_synonym="FAIM3; FcmuR; TOSO"
                     /coded_by="NM_001193338.2:88..1008"
                     /note="isoform c precursor is encoded by transcript
                     variant 4"
                     /db_xref="CCDS:CCDS53467.1"
                     /db_xref="GeneID:9214"
                     /db_xref="HGNC:HGNC:14315"
                     /db_xref="MIM:606015"
ORIGIN      
        1 mdfwlwplyf lpvsgalril pevkvegelg gsvtikcplp emhvriylcr emagsgtcgt
       61 vvsttnfika eykgrvtlkq yprknlflve vtqltesdsg vyacgagmnt drgktqkvtl
      121 nvhseyepsw eeqpmpetpk wfhlpylfqm payassskfv trvttpaqrg kvppvhhssp
      181 ttqithrprv srassvagdk prtflpstta skisalegll kpqtpsynhh trlhrqsplq
      241 agpptgreda rpgelpeapr vaatalpkqh lqrlpaarsw sgrcrhrggp rsrprsavap
      301 rpaagv
//
LOCUS       NP_001135998             547 aa            linear   PRI 27-DEC-2022
DEFINITION  G protein-coupled receptor associated sorting protein 3 [Homo
            sapiens].
ACCESSION   NP_001135998
VERSION     NP_001135998.1
DBSOURCE    REFSEQ: accession NM_001142526.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 547)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 547)
  AUTHORS   Kutzner A and Heese K.
  TITLE     Glutamate E15 and E171 are Hotspots in p60TRP-Related Cancer
  JOURNAL   Cancer Invest 34 (2), 64-69 (2016)
   PUBMED   26854063
  REMARK    GeneRIF: Report that some regions of p60TRP were more prone to
            specific mutations, with two hotspots for mutations at E15 and
            E171.
REFERENCE   3  (residues 1 to 547)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   4  (residues 1 to 547)
  AUTHORS   Winter EE and Ponting CP.
  TITLE     Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism
            sustained by gene conversion events
  JOURNAL   BMC Evol Biol 5, 54 (2005)
   PUBMED   16221301
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 547)
  AUTHORS   Heese K, Yamada T, Akatsu H, Yamamoto T, Kosaka K, Nagai Y and
            Sawada T.
  TITLE     Characterizing the new transcription regulator protein p60TRP
  JOURNAL   J Cell Biochem 91 (5), 1030-1042 (2004)
   PUBMED   15034937
  REMARK    GeneRIF: Down-regulation in the brain of Alzheimer's disease
            subjects point to a possible pivotal role of p60TRP in the control
            of cellular aging and survival.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA397309.1, DA398982.1,
            AB051488.1, BC041409.2 and AL035427.17.
            
            Summary: This gene is a member of a gene family which encodes
            proteins with a basic helix-loop-helix domain. Other members of
            this gene family encode proteins which function as transcription
            factors, either enhancing or inhibiting transcription depending on
            the activity of other DNA binding proteins. The coding region of
            this gene is located entirely within the terminal exon. The encoded
            protein may be involved in the survival of neurons (PMID:
            15034937). Multiple alternatively spliced variants, encoding the
            same protein, have been identified. [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (4) differs in the 5' UTR,
            compared to variant 1. Variants 1-8 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.60051.1,
                                           SRR1803612.243653.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..547
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     Protein         1..547
                     /product="G protein-coupled receptor associated sorting
                     protein 3"
                     /note="protein BHLHB9; p60-like protein; transcription
                     regulator of 60 kDa; basic helix-loop-helix domain
                     containing, class B, 9;
                     p60-transcription-regulator-protein; basic
                     helix-loop-helix family member b9"
                     /calculated_mol_wt=60160
     Region          1..32
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PI77.1)"
     Region          80..102
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PI77.1)"
     Region          320..541
                     /region_name="Arm_2"
                     /note="Armadillo-like; pfam04826"
                     /db_xref="CDD:428145"
     CDS             1..547
                     /gene="GPRASP3"
                     /gene_synonym="BHLHB9; GASP3; p60TRP"
                     /coded_by="NM_001142526.2:543..2186"
                     /db_xref="GeneID:80823"
                     /db_xref="HGNC:HGNC:29353"
                     /db_xref="MIM:300921"
ORIGIN      
        1 magtknktra qaktekkaai qakagaerea tgvvrpvakt rakakaktgs ktdavaemka
       61 vsknkvvaet kegalsepkt lgkamgdftp kagnestsst ckneagtdaw fwageeatin
      121 swfwngeeag nsfstkndkp eigaqvcaee lepaagadck prsgaeeeee envignwfwe
      181 gddtsfdpnp kpvsrivkpq pvyeineknr pkdwsevtiw pnapavtpav lgfrsqapse
      241 asppsyivla saeenacslp vatacrpsrn trscsqpipe crfdsdpciq tideirrqir
      301 irevngikpf acpckmecym dseefeklvs llksttdpli hkiariamgv hnvhpfaqef
      361 inevgvvtli esllsfpspe mrkktvitln ppsgderqrk ielhvkhmck etmsfplnsp
      421 gqqsglkilg qlttdfvhhy ivanyfself hllssgnckt rnlvlkllln msenptaard
      481 minmkalaal klifnqkeak anlvsgvaif inikehirkg sivvvdhlsy ntlmaifrev
      541 keiietm
//
LOCUS       NP_001243432             327 aa            linear   PRI 27-DEC-2022
DEFINITION  cell adhesion molecule 2 isoform 4 [Homo sapiens].
ACCESSION   NP_001243432
VERSION     NP_001243432.1
DBSOURCE    REFSEQ: accession NM_001256503.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 327)
  AUTHORS   Jinyang M, Bojuan L, Lixin X, Wan D and Sun T.
  TITLE     Long Non-Coding RNA HCG11 Inhibits Glioma Cells Proliferation and
            Migration through Decoying miR-590-3p and Up-Regulating CADM2
  JOURNAL   Pathobiology 89 (4), 233-244 (2022)
   PUBMED   35279660
  REMARK    GeneRIF: Long Non-Coding RNA HCG11 Inhibits Glioma Cells
            Proliferation and Migration through Decoying miR-590-3p and
            Up-Regulating CADM2.
REFERENCE   2  (residues 1 to 327)
  AUTHORS   Eijsbouts C, Zheng T, Kennedy NA, Bonfiglio F, Anderson CA,
            Moutsianas L, Holliday J, Shi J, Shringarpure S, Voda AI, Farrugia
            G, Franke A, Hubenthal M, Abecasis G, Zawistowski M, Skogholt AH,
            Ness-Jensen E, Hveem K, Esko T, Teder-Laving M, Zhernakova A,
            Camilleri M, Boeckxstaens G, Whorwell PJ, Spiller R, McVean G,
            D'Amato M, Jostins L and Parkes M.
  CONSRTM   23andMe Research Team; Bellygenes Initiative
  TITLE     Genome-wide analysis of 53,400 people with irritable bowel syndrome
            highlights shared genetic pathways with mood and anxiety disorders
  JOURNAL   Nat Genet 53 (11), 1543-1552 (2021)
   PUBMED   34741163
  REMARK    GeneRIF: Genome-wide analysis of 53,400 people with irritable bowel
            syndrome highlights shared genetic pathways with mood and anxiety
            disorders.
REFERENCE   3  (residues 1 to 327)
  AUTHORS   Arends RM, Pasman JA, Verweij KJH, Derks EM, Gordon SD, Hickie I,
            Thomas NS, Aliev F, Zietsch BP, van der Zee MD, Mitchell BL, Martin
            NG, Dick DM, Gillespie NA, de Geus EJC, Boomsma DI, Schellekens AFA
            and Vink JM.
  TITLE     Associations between the CADM2 gene, substance use, risky sexual
            behavior, and self-control: A phenome-wide association study
  JOURNAL   Addict Biol 26 (6), e13015 (2021)
   PUBMED   33604983
  REMARK    GeneRIF: Associations between the CADM2 gene, substance use, risky
            sexual behavior, and self-control: A phenome-wide association
            study.
REFERENCE   4  (residues 1 to 327)
  AUTHORS   Shirogane Y, Takemoto R, Suzuki T, Kameda T, Nakashima K,
            Hashiguchi T and Yanagi Y.
  TITLE     CADM1 and CADM2 Trigger Neuropathogenic Measles Virus-Mediated
            Membrane Fusion by Acting in cis
  JOURNAL   J Virol 95 (14), e0052821 (2021)
   PUBMED   33910952
  REMARK    GeneRIF: CADM1 and CADM2 Trigger Neuropathogenic Measles
            Virus-Mediated Membrane Fusion by Acting in cis.
REFERENCE   5  (residues 1 to 327)
  AUTHORS   Shen FF, Zhang F, Yang HJ, Li JK, Su JF, Yu PT, Zhou FY and Che GW.
  TITLE     ADAMTS9-AS2 and CADM2 expression and association with the prognosis
            in esophageal squamous cell carcinoma
  JOURNAL   Biomark Med 14 (15), 1415-1426 (2020)
   PUBMED   32892630
  REMARK    GeneRIF: ADAMTS9-AS2 and CADM2 expression and association with the
            prognosis in esophageal squamous cell carcinoma.
REFERENCE   6  (residues 1 to 327)
  AUTHORS   Hiruma A, Ikeda S, Terui T, Ozawa M, Hashimoto T, Yasumoto S,
            Nakayama J, Kubota Y, Iijima M, Sueki H, Matsumoto Y, Kato M,
            Akasaka E, Ikoma N, Mabuchi T, Tamiya S, Matsuyama T, Ozawa A,
            Inoko H and Oka A.
  TITLE     A novel splicing variant of CADM2 as a protective transcript of
            psoriasis
  JOURNAL   Biochem Biophys Res Commun 412 (4), 626-632 (2011)
   PUBMED   21864505
  REMARK    GeneRIF: The results indicated that CADM2 is one of the pathogenic
            factors for psoriasis.
REFERENCE   7  (residues 1 to 327)
  AUTHORS   Chang G, Xu S, Dhir R, Chandran U, O'Keefe DS, Greenberg NM and
            Gingrich JR.
  TITLE     Hypoexpression and epigenetic regulation of candidate tumor
            suppressor gene CADM-2 in human prostate cancer
  JOURNAL   Clin Cancer Res 16 (22), 5390-5401 (2010)
   PUBMED   21062931
  REMARK    GeneRIF: Its expression is regulated in part by promoter
            methylation and implicates CADM-2 as a previously unrecognized
            tumor suppressor gene in a proportion of human prostate cancers.
REFERENCE   8  (residues 1 to 327)
  AUTHORS   Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G,
            Jackson AU, Lango Allen H, Lindgren CM, Luan J, Magi R, Randall JC,
            Vedantam S, Winkler TW, Qi L, Workalemahu T, Heid IM,
            Steinthorsdottir V, Stringham HM, Weedon MN, Wheeler E, Wood AR,
            Ferreira T, Weyant RJ, Segre AV, Estrada K, Liang L, Nemesh J, Park
            JH, Gustafsson S, Kilpelainen TO, Yang J, Bouatia-Naji N, Esko T,
            Feitosa MF, Kutalik Z, Mangino M, Raychaudhuri S, Scherag A, Smith
            AV, Welch R, Zhao JH, Aben KK, Absher DM, Amin N, Dixon AL, Fisher
            E, Glazer NL, Goddard ME, Heard-Costa NL, Hoesel V, Hottenga JJ,
            Johansson A, Johnson T, Ketkar S, Lamina C, Li S, Moffatt MF, Myers
            RH, Narisu N, Perry JR, Peters MJ, Preuss M, Ripatti S, Rivadeneira
            F, Sandholt C, Scott LJ, Timpson NJ, Tyrer JP, van Wingerden S,
            Watanabe RM, White CC, Wiklund F, Barlassina C, Chasman DI, Cooper
            MN, Jansson JO, Lawrence RW, Pellikka N, Prokopenko I, Shi J,
            Thiering E, Alavere H, Alibrandi MT, Almgren P, Arnold AM, Aspelund
            T, Atwood LD, Balkau B, Balmforth AJ, Bennett AJ, Ben-Shlomo Y,
            Bergman RN, Bergmann S, Biebermann H, Blakemore AI, Boes T,
            Bonnycastle LL, Bornstein SR, Brown MJ, Buchanan TA, Busonero F,
            Campbell H, Cappuccio FP, Cavalcanti-Proenca C, Chen YD, Chen CM,
            Chines PS, Clarke R, Coin L, Connell J, Day IN, den Heijer M, Duan
            J, Ebrahim S, Elliott P, Elosua R, Eiriksdottir G, Erdos MR,
            Eriksson JG, Facheris MF, Felix SB, Fischer-Posovszky P, Folsom AR,
            Friedrich N, Freimer NB, Fu M, Gaget S, Gejman PV, Geus EJ, Gieger
            C, Gjesing AP, Goel A, Goyette P, Grallert H, Grassler J,
            Greenawalt DM, Groves CJ, Gudnason V, Guiducci C, Hartikainen AL,
            Hassanali N, Hall AS, Havulinna AS, Hayward C, Heath AC,
            Hengstenberg C, Hicks AA, Hinney A, Hofman A, Homuth G, Hui J, Igl
            W, Iribarren C, Isomaa B, Jacobs KB, Jarick I, Jewell E, John U,
            Jorgensen T, Jousilahti P, Jula A, Kaakinen M, Kajantie E, Kaplan
            LM, Kathiresan S, Kettunen J, Kinnunen L, Knowles JW, Kolcic I,
            Konig IR, Koskinen S, Kovacs P, Kuusisto J, Kraft P, Kvaloy K,
            Laitinen J, Lantieri O, Lanzani C, Launer LJ, Lecoeur C, Lehtimaki
            T, Lettre G, Liu J, Lokki ML, Lorentzon M, Luben RN, Ludwig B,
            Manunta P, Marek D, Marre M, Martin NG, McArdle WL, McCarthy A,
            McKnight B, Meitinger T, Melander O, Meyre D, Midthjell K,
            Montgomery GW, Morken MA, Morris AP, Mulic R, Ngwa JS, Nelis M,
            Neville MJ, Nyholt DR, O'Donnell CJ, O'Rahilly S, Ong KK, Oostra B,
            Pare G, Parker AN, Perola M, Pichler I, Pietilainen KH, Platou CG,
            Polasek O, Pouta A, Rafelt S, Raitakari O, Rayner NW, Ridderstrale
            M, Rief W, Ruokonen A, Robertson NR, Rzehak P, Salomaa V, Sanders
            AR, Sandhu MS, Sanna S, Saramies J, Savolainen MJ, Scherag S,
            Schipf S, Schreiber S, Schunkert H, Silander K, Sinisalo J,
            Siscovick DS, Smit JH, Soranzo N, Sovio U, Stephens J, Surakka I,
            Swift AJ, Tammesoo ML, Tardif JC, Teder-Laving M, Teslovich TM,
            Thompson JR, Thomson B, Tonjes A, Tuomi T, van Meurs JB, van Ommen
            GJ, Vatin V, Viikari J, Visvikis-Siest S, Vitart V, Vogel CI,
            Voight BF, Waite LL, Wallaschofski H, Walters GB, Widen E, Wiegand
            S, Wild SH, Willemsen G, Witte DR, Witteman JC, Xu J, Zhang Q,
            Zgaga L, Ziegler A, Zitting P, Beilby JP, Farooqi IS, Hebebrand J,
            Huikuri HV, James AL, Kahonen M, Levinson DF, Macciardi F, Nieminen
            MS, Ohlsson C, Palmer LJ, Ridker PM, Stumvoll M, Beckmann JS,
            Boeing H, Boerwinkle E, Boomsma DI, Caulfield MJ, Chanock SJ,
            Collins FS, Cupples LA, Smith GD, Erdmann J, Froguel P, Gronberg H,
            Gyllensten U, Hall P, Hansen T, Harris TB, Hattersley AT, Hayes RB,
            Heinrich J, Hu FB, Hveem K, Illig T, Jarvelin MR, Kaprio J, Karpe
            F, Khaw KT, Kiemeney LA, Krude H, Laakso M, Lawlor DA, Metspalu A,
            Munroe PB, Ouwehand WH, Pedersen O, Penninx BW, Peters A,
            Pramstaller PP, Quertermous T, Reinehr T, Rissanen A, Rudan I,
            Samani NJ, Schwarz PE, Shuldiner AR, Spector TD, Tuomilehto J, Uda
            M, Uitterlinden A, Valle TT, Wabitsch M, Waeber G, Wareham NJ,
            Watkins H, Wilson JF, Wright AF, Zillikens MC, Chatterjee N,
            McCarroll SA, Purcell S, Schadt EE, Visscher PM, Assimes TL,
            Borecki IB, Deloukas P, Fox CS, Groop LC, Haritunians T, Hunter DJ,
            Kaplan RC, Mohlke KL, O'Connell JR, Peltonen L, Schlessinger D,
            Strachan DP, van Duijn CM, Wichmann HE, Frayling TM,
            Thorsteinsdottir U, Abecasis GR, Barroso I, Boehnke M, Stefansson
            K, North KE, McCarthy MI, Hirschhorn JN, Ingelsson E and Loos RJ.
  CONSRTM   MAGIC; Procardis Consortium
  TITLE     Association analyses of 249,796 individuals reveal 18 new loci
            associated with body mass index
  JOURNAL   Nat Genet 42 (11), 937-948 (2010)
   PUBMED   20935630
REFERENCE   9  (residues 1 to 327)
  AUTHORS   Festen EA, Stokkers PC, van Diemen CC, van Bodegraven AA, Boezen
            HM, Crusius BJ, Hommes DW, van der Woude CJ, Balschun T, Verspaget
            HW, Schreiber S, de Jong DJ, Franke A, Dijkstra G, Wijmenga C and
            Weersma RK.
  TITLE     Genetic analysis in a Dutch study sample identifies more ulcerative
            colitis susceptibility loci and shows their additive role in
            disease risk
  JOURNAL   Am J Gastroenterol 105 (2), 395-402 (2010)
   PUBMED   19861958
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Am J Gastroenterol. 2010 Feb;105(2):479. van der Woude,
            Janneke C [corrected to van der Woude, C Janneke]]
REFERENCE   10 (residues 1 to 327)
  AUTHORS   Biederer T.
  TITLE     Bioinformatic characterization of the SynCAM family of
            immunoglobulin-like domain-containing adhesion molecules
  JOURNAL   Genomics 87 (1), 139-150 (2006)
   PUBMED   16311015
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018361.15, AC117452.2,
            AC119726.2 and AC107024.5.
            
            Summary: This gene encodes a member of the synaptic cell adhesion
            molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig)
            superfamily. The encoded protein has three Ig-like domains and a
            cytosolic protein 4.1 binding site near the C-terminus. Proteins
            belonging to the protein 4.1 family crosslink spectrin and interact
            with other cytoskeletal proteins. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Feb 2012].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB646743.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p12.1"
     Protein         1..327
                     /product="cell adhesion molecule 2 isoform 4"
                     /note="nectin-like protein 3; nectin-like 3;
                     immunoglobulin superfamily member 4D; synaptic cell
                     adhesion molecule 2"
                     /calculated_mol_wt=35279
     Region          12..115
                     /region_name="IgI_2_Necl-3"
                     /note="Second immunoglobulin (Ig)-like domain of
                     nectin-like molecule-3 (Necl-3); member of the I-set of Ig
                     superfamily domains; cd05884"
                     /db_xref="CDD:409467"
     Region          13..16
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409467"
     Region          19..23
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409467"
     Region          32..42
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409467"
     Region          45..54
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409467"
     Region          55..58
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409467"
     Region          60..67
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409467"
     Region          73..83
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409467"
     Region          91..99
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409467"
     Region          107..114
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409467"
     Region          119..192
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          136..140
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          149..154
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          171..175
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          185..190
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          198..201
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          280..298
                     /region_name="4.1m"
                     /note="putative band 4.1 homologues' binding motif;
                     smart00294"
                     /db_xref="CDD:128590"
     CDS             1..327
                     /gene="CADM2"
                     /gene_synonym="IGSF4D; Necl-3; NECL3; SynCAM 2; synCAM2"
                     /coded_by="NM_001256503.2:791..1774"
                     /note="isoform 4 is encoded by transcript variant 5"
                     /db_xref="GeneID:253559"
                     /db_xref="HGNC:HGNC:29849"
                     /db_xref="MIM:609938"
ORIGIN      
        1 mpvktskayl tvlgvpekpq isgfsspvme gdlmqltckt sgskpaadir wfkndkeikd
       61 vkylkeedan rktftvsstl dfrvdrsddg vavicrvdhe slnatpqvam qvleihytps
      121 vkiipstpfp qegqpliltc eskgkplpep vlwtkdggel pdpdrmvvsg relnilflnk
      181 tdngtyrcea tntigqssae yvlivhdvpn tllpttiips lttatvtttv aittspttsa
      241 ttssirdpna lagqngpdha liggivavvv fvtlcsifll grylarhkgt yltneakgae
      301 dapdadtaii naegsqvnae ekkeyfi
//
LOCUS       NP_001269878             230 aa            linear   PRI 27-DEC-2022
DEFINITION  COP9 signalosome complex subunit 7b isoform c [Homo sapiens].
ACCESSION   NP_001269878 XP_005246827
VERSION     NP_001269878.1
DBSOURCE    REFSEQ: accession NM_001282949.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 230)
  AUTHORS   Wang J, Dubiel D, Wu Y, Cheng Y, Wolf DA and Dubiel W.
  TITLE     CSN7B defines a variant COP9 signalosome complex with distinct
            function in DNA damage response
  JOURNAL   Cell Rep 34 (4), 108662 (2021)
   PUBMED   33503427
  REMARK    GeneRIF: CSN7B defines a variant COP9 signalosome complex with
            distinct function in DNA damage response.
REFERENCE   2  (residues 1 to 230)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 230)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 230)
  AUTHORS   Fuzesi-Levi MG, Ben-Nissan G, Bianchi E, Zhou H, Deery MJ, Lilley
            KS, Levin Y and Sharon M.
  TITLE     Dynamic regulation of the COP9 signalosome in response to DNA
            damage
  JOURNAL   Mol Cell Biol 34 (6), 1066-1076 (2014)
   PUBMED   24421388
REFERENCE   5  (residues 1 to 230)
  AUTHORS   Enchev RI, Schreiber A, Beuron F and Morris EP.
  TITLE     Structural insights into the COP9 signalosome and its common
            architecture with the 26S proteasome lid and eIF3
  JOURNAL   Structure 18 (4), 518-527 (2010)
   PUBMED   20399188
REFERENCE   6  (residues 1 to 230)
  AUTHORS   Hoareau Alves K, Bochard V, Rety S and Jalinot P.
  TITLE     Association of the mammalian proto-oncoprotein Int-6 with the three
            protein complexes eIF3, COP9 signalosome and 26S proteasome
  JOURNAL   FEBS Lett 527 (1-3), 15-21 (2002)
   PUBMED   12220626
REFERENCE   7  (residues 1 to 230)
  AUTHORS   Wang Y, Devereux W, Stewart TM and Casero RA Jr.
  TITLE     Polyamine-modulated factor 1 binds to the human homologue of the 7a
            subunit of the Arabidopsis COP9 signalosome: implications in gene
            expression
  JOURNAL   Biochem J 366 (Pt 1), 79-86 (2002)
   PUBMED   12020345
REFERENCE   8  (residues 1 to 230)
  AUTHORS   Lyapina S, Cope G, Shevchenko A, Serino G, Tsuge T, Zhou C, Wolf
            DA, Wei N, Shevchenko A and Deshaies RJ.
  TITLE     Promotion of NEDD-CUL1 conjugate cleavage by COP9 signalosome
  JOURNAL   Science 292 (5520), 1382-1385 (2001)
   PUBMED   11337588
REFERENCE   9  (residues 1 to 230)
  AUTHORS   Bech-Otschir D, Kraft R, Huang X, Henklein P, Kapelari B, Pollmann
            C and Dubiel W.
  TITLE     COP9 signalosome-specific phosphorylation targets p53 to
            degradation by the ubiquitin system
  JOURNAL   EMBO J 20 (7), 1630-1639 (2001)
   PUBMED   11285227
REFERENCE   10 (residues 1 to 230)
  AUTHORS   Wei N, Tsuge T, Serino G, Dohmae N, Takio K, Matsui M and Deng XW.
  TITLE     The COP9 complex is conserved between plants and mammals and is
            related to the 26S proteasome regulatory complex
  JOURNAL   Curr Biol 8 (16), 919-922 (1998)
   PUBMED   9707402
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA754035.1, AK307486.1, AC073476.6, AA126041.1 and BE504900.1.
            On Sep 24, 2013 this sequence version replaced XP_005246827.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR and 5'
            coding region, and lacks an exon that results in a frameshift in
            the 3' coding region, compared to variant 1. The encoded isoform
            (c) has distinct N- and C-termini and is shorter than isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK307486.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2149178
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..230
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     Protein         1..230
                     /product="COP9 signalosome complex subunit 7b isoform c"
                     /note="COP9 signalosome complex subunit 7b; signalosome
                     subunit 7b; JAB1-containing signalosome subunit 7b; COP9
                     constitutive photomorphogenic homolog subunit 7B"
                     /calculated_mol_wt=26293
     Region          54..143
                     /region_name="PINT"
                     /note="motif in proteasome subunits, Int-6, Nip-1 and
                     TRIP-15; smart00088"
                     /db_xref="CDD:214509"
     Region          132..181
                     /region_name="CSN7a_helixI"
                     /note="COP9 signalosome complex subunit 7a helix I domain;
                     pfam18392"
                     /db_xref="CDD:436461"
     CDS             1..230
                     /gene="COPS7B"
                     /gene_synonym="CSN7B; SGN7b"
                     /coded_by="NM_001282949.3:94..786"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS63152.1"
                     /db_xref="GeneID:64708"
                     /db_xref="HGNC:HGNC:16760"
                     /db_xref="MIM:616010"
ORIGIN      
        1 mtarreltsv ymelrhlqim laeganaayl qllnlfaygt ypdyiankes lpelstaqqn
       61 klkhltivsl asrmkcipys vllkdlemrn lreledliie avytdiiqgk ldqrnqllev
      121 dfcigrdirk kdinnivktl hewcdgceav llgieqqvlr anqykenhnr tqqqveaevt
      181 nikktlkata sssaqemeqq laerecppha eqrqptkkms kvkglvssrh
//
LOCUS       NP_001229560             114 aa            linear   PRI 29-DEC-2022
DEFINITION  cation channel sperm-associated auxiliary subunit TMEM262 isoform 2
            [Homo sapiens].
ACCESSION   NP_001229560 XP_001716109 XP_003119553 XP_003120763
VERSION     NP_001229560.1
DBSOURCE    REFSEQ: accession NM_001242631.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 114)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003068.3.
            On or before Jun 18, 2011 this sequence version replaced
            XP_001716109.3, XP_003120763.1, XP_003119553.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AI015611.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..114
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     Protein         1..114
                     /product="cation channel sperm-associated auxiliary
                     subunit TMEM262 isoform 2"
                     /note="cation channel sperm-associated auxiliary subunit
                     eta; cation channel sperm-associated auxiliary subunit
                     TMEM262"
                     /calculated_mol_wt=12804
     Site            17..38
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (E9PQX1.1)"
     Site            52..72
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (E9PQX1.1)"
     CDS             1..114
                     /gene="TMEM262"
                     /coded_by="NM_001242631.3:80..424"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:100130348"
                     /db_xref="HGNC:HGNC:49389"
ORIGIN      
        1 mwlqdriatf ffpkgmmltt aalmlfflhl gifirdvhnf cityhydhms fhytvvlmfs
       61 qvisicwaam gslyaemten naqrshvlqp pvlgvsghrv pggaplrpge seqg
//
LOCUS       NP_001275901             455 aa            linear   PRI 29-DEC-2022
DEFINITION  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform 5 [Homo
            sapiens].
ACCESSION   NP_001275901
VERSION     NP_001275901.1
DBSOURCE    REFSEQ: accession NM_001288972.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 455)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 455)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 455)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 455)
  AUTHORS   Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET,
            Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK,
            Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS,
            Rensvold JW, Taylor RW, Prokisch H, Kim JP, Coon JJ and Pagliarini
            DJ.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   5  (residues 1 to 455)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   6  (residues 1 to 455)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 455)
  AUTHORS   Watkins PA, Maiguel D, Jia Z and Pevsner J.
  TITLE     Evidence for 26 distinct acyl-coenzyme A synthetase genes in the
            human genome
  JOURNAL   J Lipid Res 48 (12), 2736-2750 (2007)
   PUBMED   17762044
REFERENCE   8  (residues 1 to 455)
  AUTHORS   Perera RJ, Marcusson EG, Koo S, Kang X, Kim Y, White N and Dean NM.
  TITLE     Identification of novel PPARgamma target genes in primary human
            adipocytes
  JOURNAL   Gene 369, 90-99 (2006)
   PUBMED   16380219
REFERENCE   9  (residues 1 to 455)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC296100.1, AY358660.1 and AK308584.1.
            
            Transcript Variant: This variant (6) differs in its 5' UTR and uses
            a downstream start codon, compared to variant 1. The encoded
            isoform (5) has a shorter N-terminus, compared to isoform 1. Both
            variants 5 and 6 encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3075435.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..455
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     Protein         1..455
                     /product="medium-chain acyl-CoA ligase ACSF2,
                     mitochondrial isoform 5"
                     /EC_number="6.2.1.2"
                     /note="PPARG binding, long chain fatty acid acyl Co-A
                     ligase like; acyl-CoA synthetase family member 2,
                     mitochondrial; medium-chain acyl-CoA ligase ACSF2,
                     mitochondrial"
                     /calculated_mol_wt=50749
     Region          2..455
                     /region_name="PRK08315"
                     /note="AMP-binding domain protein; Validated"
                     /db_xref="CDD:236236"
     CDS             1..455
                     /gene="ACSF2"
                     /gene_synonym="ACSMW; AVYV493"
                     /coded_by="NM_001288972.2:442..1809"
                     /note="isoform 5 is encoded by transcript variant 6"
                     /db_xref="GeneID:80221"
                     /db_xref="HGNC:HGNC:26101"
                     /db_xref="MIM:610465"
ORIGIN      
        1 meleyvlkkv gckalvfpkq fktqqyynvl kqicpevena qpgalksqrl pdlttvisvd
       61 aplpgtllld evvaagstrq hldqlqynqq flschdpini qftsgttgsp kgatlshyni
      121 vnnsnilger lklhektpeq lrmilpnply hclgsvagtm mclmygatli laspifngkk
      181 aleaisrerg tflygtptmf vdilnqpdfs sydistmcgg viagspappe liraiinkin
      241 mkdlvvaygt tenspvtfah fpedtveqka esvgrimpht earimnmeag tlaklntpge
      301 lcirgycvml gywgepqkte eavdqdkwyw tgdvatmneq gfckivgrsk dmiirggeni
      361 ypaeledffh thpkvqevqv vgvkddrmge eicacirlkd geettveeik afckgkishf
      421 kipkyivfvt nypltisgki qkfklreqme rhlnl
//
LOCUS       NP_065928               4427 aa            linear   PRI 30-DEC-2022
DEFINITION  dynein axonemal heavy chain 2 isoform 1 [Homo sapiens].
ACCESSION   NP_065928 NP_940855 XP_005256527 XP_209041
VERSION     NP_065928.2
DBSOURCE    REFSEQ: accession NM_020877.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 4427)
  AUTHORS   Gao Y, Tian S, Sha Y, Zha X, Cheng H, Wang A, Liu C, Lv M, Ni X, Li
            Q, Wu H, Tan Q, Tang D, Song B, Ding D, Cong J, Xu Y, Zhou P, Wei
            Z, Cao Y, Xu Y, Zhang F and He X.
  TITLE     Novel bi-allelic variants in DNAH2 cause severe
            asthenoteratozoospermia with multiple morphological abnormalities
            of the flagella
  JOURNAL   Reprod Biomed Online 42 (5), 963-972 (2021)
   PUBMED   33771466
  REMARK    GeneRIF: Novel bi-allelic variants in DNAH2 cause severe
            asthenoteratozoospermia with multiple morphological abnormalities
            of the flagella.
REFERENCE   2  (residues 1 to 4427)
  AUTHORS   Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L,
            Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F,
            Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E,
            Amselem S, Mitchell V, Toure A and Legendre M.
  TITLE     Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer
            Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to
            Asthenozoospermia
  JOURNAL   Am J Hum Genet 105 (1), 198-212 (2019)
   PUBMED   31178125
REFERENCE   3  (residues 1 to 4427)
  AUTHORS   Li Y, Sha Y, Wang X, Ding L, Liu W, Ji Z, Mei L, Huang X, Lin S,
            Kong S, Lu J, Qin W, Zhang X, Zhuang J, Tang Y and Lu Z.
  TITLE     DNAH2 is a novel candidate gene associated with multiple
            morphological abnormalities of the sperm flagella
  JOURNAL   Clin Genet 95 (5), 590-600 (2019)
   PUBMED   30811583
  REMARK    GeneRIF: the DNAH2 mutation can cause severe sperm flagella defects
            that damage sperm motility.
REFERENCE   4  (residues 1 to 4427)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 4427)
  AUTHORS   Chapelin C, Duriez B, Magnino F, Goossens M, Escudier E and Amselem
            S.
  TITLE     Isolation of several human axonemal dynein heavy chain genes:
            genomic structure of the catalytic site, phylogenetic analysis and
            chromosomal assignment
  JOURNAL   FEBS Lett 412 (2), 325-330 (1997)
   PUBMED   9256245
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087388.9, AB040936.2, BC034225.1, AC025335.25 and BQ638815.1.
            On or before Dec 24, 2014 this sequence version replaced
            XP_005256527.1, NP_940855.1, NP_065928.1.
            
            Summary: Dyneins are microtubule-associated motor protein complexes
            composed of several heavy, light, and intermediate chains. The
            axonemal dyneins, found in cilia and flagella, are components of
            the outer and inner dynein arms attached to the peripheral
            microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy
            chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM,
            Mar 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB040936.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2161674
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000572933.6/ ENSP00000458355.1
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..4427
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     Protein         1..4427
                     /product="dynein axonemal heavy chain 2 isoform 1"
                     /note="dynein, axonemal, heavy polypeptide 2; dynein heavy
                     chain 2, axonemal; ciliary dynein heavy chain 2; axonemal
                     beta dynein heavy chain 2; dynein heavy chain
                     domain-containing protein 3"
                     /calculated_mol_wt=507570
     Region          1..1764
                     /region_name="Stem. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P225.3)"
     Region          1..73
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P225.3)"
     Region          242..717
                     /region_name="DHC_N1"
                     /note="Dynein heavy chain, N-terminal region 1; pfam08385"
                     /db_xref="CDD:429963"
     Region          <923..>1455
                     /region_name="sbcc"
                     /note="exonuclease SbcC; TIGR00618"
                     /db_xref="CDD:129705"
     Region          1220..1628
                     /region_name="DHC_N2"
                     /note="Dynein heavy chain, N-terminal region 2; pfam08393"
                     /db_xref="CDD:429971"
     Region          1292..4108
                     /region_name="DYN1"
                     /note="Dynein, heavy chain [Cytoskeleton]; COG5245"
                     /db_xref="CDD:227570"
     Region          1765..2091
                     /region_name="AAA_6"
                     /note="Hydrolytic ATP binding site of dynein motor region
                     D1; pfam12774"
                     /db_xref="CDD:432774"
     Region          1765..1986
                     /region_name="AAA 1. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P225.3)"
     Region          2046..2273
                     /region_name="AAA 2. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P225.3)"
     Region          2378..2625
                     /region_name="AAA 3. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P225.3)"
     Region          2721..2754
                     /region_name="TPR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P225.3)"
     Region          2722..2974
                     /region_name="AAA 4. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P225.3)"
     Region          2989..3272
                     /region_name="Stalk. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P225.3)"
     Region          3358..3588
                     /region_name="AAA 5. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P225.3)"
     Region          3804..4023
                     /region_name="AAA 6. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P225.3)"
     Region          4072..4104
                     /region_name="TPR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P225.3)"
     Region          4105..4140
                     /region_name="TPR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P225.3)"
     Region          4123..4423
                     /region_name="Dynein_C"
                     /note="Dynein heavy chain C-terminal domain; pfam18199"
                     /db_xref="CDD:436342"
     CDS             1..4427
                     /gene="DNAH2"
                     /gene_synonym="DNAHC2; DNHD3; SPGF45"
                     /coded_by="NM_020877.5:1071..14354"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS32551.1"
                     /db_xref="GeneID:146754"
                     /db_xref="HGNC:HGNC:2948"
                     /db_xref="MIM:603333"
ORIGIN      
        1 msskaekkqr lsgrgssqas wsgratraav atqeqgnapa vsepelqael pkeepeprle
       61 gpqaqseesv epeadvkplf lsraaltgla davwtqehda ilehfaqdpt esiltifidp
      121 cfglklelgm pvqtqnqlvy firqapvpit wenfeatvqf gtvrgpyipa llrllggvfa
      181 pqifantgwp esirnhfash lhkflacltd trykleghtv lyipaeamnm kpemvikdke
      241 lvqrletsmi hwtrqikeml saqetvetge nlgpleeief wrnrcmdlsg iskqlvkkgv
      301 khvesilhla kssylapfmk laqqiqdgsr qaqsnltfls ilkepyqela fmkpkdissk
      361 lpklisliri iwvnsphynt rerltslfrk vcdcqyhfar wedgkqgplp cffgaqgpqi
      421 trnlleiedi fhknlhtlra vrggildvkn tcwhedynkf ragikdlevm tqnlitsafe
      481 lvrdvphgvl lldtfhrlas reaikrtydk kavdlymlfn selalvnrer nkkwpdlepy
      541 vaqysgkarw vhilrrridr vmtclagahf lprigtgkes vhtyqqmvqa idelvrktfq
      601 ewtssldkdc irrldtpllr isqekagmld vnfdksllil faeidywerl lfetphyvvn
      661 vaeraedlri lrenlllvar dynriiamls pdeqalfker irlldkkihp glkklhwalk
      721 gasaffitec rihaskvqmi vnefkastlt igwraqemse kllvrisgkr vyrdlefeed
      781 qrehraavqq klmnlhqdvv timtnsyevf kndgpeiqqq wmlymirldr mmedalrlnv
      841 kwsllelska ingdgktspn plfqvlvilk ndlqgsvaqv efsptlqtla gvvndignhl
      901 fstisvfchl pdiltkrklh repiqtvveq dedikkiqtq issgmtnnas llqnylktwd
      961 myreiweink dsfihryqrl nppvssfvad iarytevann vqkeetvtni qfvlldcshl
     1021 kfslvqhcne wqnkfatllr emaagrllel htylkenaek isrppqtlee lgvslqlvda
     1081 lkhdlanvet qippiheqfa ilekyevpve dsvlemldsl ngewvvfqqt lldskqmlkk
     1141 hkekfktgli hsaddfkkka htlledfefk ghftsnvgym saldqitqvr amlmamreee
     1201 nslranlgif kieqppskdl qnlekeldal qqiweiardw eenwnewktg rflilqtetm
     1261 ettahglfrr ltklakeykd rnweiiettr skieqfkrtm plisdlrnpa lrerhwdqvr
     1321 deiqrefdqe sesftleqiv elgmdqhvek igeisasatk elaievalqn iaktwdvtql
     1381 divpykdkgh hrlrgteevf qalednqval stmkasrfvk afekdvdhwe rclslilevi
     1441 emiltvqrqw myleniflge dirkqlpnes tlfdqvnsnw kaimdrmnkd nnalrsthhp
     1501 glldtliemn tilediqksl dmyletkrhi fprfyflsnd dlleilgqsr npeavqphlk
     1561 kcfdnikllr iqkvggpssk weavgmfsgd geyidflhsv flegpveswl gdveqtmrvt
     1621 lrdllrnchl alrkflnkrd kwvkewagqv vitasqiqwt advtkcllta keradkkilk
     1681 vmkknqvsil nkyseairgn ltkimrlkiv alvtieihar dvleklyksg lmdvnsfdwl
     1741 sqlrfywekd lddcvirqtn tqfqynyeyl gnsgrlvitp ltdrcymtlt talhlhrggs
     1801 pkgpagtgkt etvkdlgkal giyvivvncs egldyksmgr mysglaqtga wgcfdefnri
     1861 nievlsvvah qilcilsala aglthfhfdg feinlvwscg ifitmnpgya grtelpenlk
     1921 smfrpiamvv pdstliaeii lfgegfgnck ilakkvytly slavqqlsrq dhydfglral
     1981 tsllryagkk rrlqpdltde evlllsmrdm niakltsvda plfnaivqdl fpnielpvid
     2041 ygklretveq eirdmglqst pftltkvfql yetknsrhst mivgctgsgk taswrilqas
     2101 lsslcragdp nfnivrefpl npkalslgel ygeydlstne wtdgilssvm rtacadekpd
     2161 ekwilfdgpv dtlwienmns vmddnkvltl ingeriampe qvsllfeved lamaspatvs
     2221 rcgmvytdya dlgwkpyvqs wlekrpkaev eplqrmfekl inkmlafkkd nckelvplpe
     2281 ysgitslckl ysalatpeng vnpadgenyv tmvemtfvfs miwsvcasvd eegrkridsy
     2341 lreiegsfpn kdtvyeyfvd pkirswtsfe dklpkswryp pnapfykimv ptvdtvryny
     2401 lvsslvanqn pillvgpvgt gktsiaqsvl qslpssqwsv lvvnmsaqtt snnvqsiies
     2461 rvekrtkgvy vpfggksmit fmddlnmpak dmfgsqpple lirlwidygf wydrtkqtik
     2521 yiremflmaa mgppgggrtv isprlrsrfn iinmtfptks qiirifgtmi nqklqdfeee
     2581 vkpignvvte atldmyntvv qrflptptkm hylfnlrdis kvfqgmlran kdfhdtkssi
     2641 trlwihecfr vfsdrlvdaa dteafmgiis dklgsffdlt fhhlcpskrp pifgdflkep
     2701 kvyedltdlt vlktvmetal neynlspsvv pmqlvlfrea iehitrivrv igqprgnmll
     2761 vgiggsgrqs larlassicd yttfqievtk hyrkqefrdd ikrlyrqagv elkttsfifv
     2821 dtqiadesfl edinnilssg evpnlykpde feeiqshiid qarveqvpes sdslfaylie
     2881 rvqnnlhivl clspmgdpfr nwirqypalv ncttinwfse wpqealleva ekcligvdlg
     2941 tqenihrkva qifvtmhwsv aqysqkmlle lrrhnyvtpt kylellsgyk kllgekrqel
     3001 laqanklrtg lfkidetrek vqvmsleled akkkvaefqk qceeylviiv qqkreadeqq
     3061 kavtanseki aveeikcqal adnaqkdlee alpaleeamr aleslnkkdi geiksygrpp
     3121 aqveivmqav milrgneptw aeakrqlgeq nfikslinfd kdnisdkvlk kigaycaqpd
     3181 fqpdiigrvs laakslcmwv ramelygrly rvvepkrirm naalaqlrek qaalaeaqek
     3241 lrevaeklem lkkqydekla qkeelrkkse emelklerag mlvsglagek arweetvqgl
     3301 eedlgylvgd cllaaaflsy mgpfltnyrd eivnqiwigk iwelqvpcsp sfaidnflcn
     3361 ptkvrdwniq glpsdafste ngiivtrgnr walmidpqaq alkwiknmeg gqglkiidlq
     3421 msdylrileh aihfgypvll qnvqeyldpt lnpmlnksva riggrllmri gdkeveyntn
     3481 frfyittkls nphyspetsa kttivnfavk eqgleaqllg ivvrkerpel eeqkdslvin
     3541 iaagkrklke ledeilrlln eatgsllddv qlvntlhtsk itatevteql etsetteint
     3601 dlareayrpc aqrasilffv lndmgcidpm yqfsldayis lfilsidksh rsnkledrid
     3661 ylndyhtyav yrytcrtlfe rhkllfsfhm cakiletsgk lnmdeynffl rggvvldreg
     3721 qmdnpcsswl adaywdnite ldkltnfhgl mnsfeqyprd whlwytnaap ekamlpgewe
     3781 nacnemqrml ivrslrqdrv afcvtsfiit nlgsrfiepp vlnmksvled stprsplvfi
     3841 lspgvdptsa llqlaehmgm aqrfhalslg qgqapiaarl lregvtqghw vflanchlsl
     3901 swmpnldklv eqlqvedphp sfrlwlssip hpdfpisilq vsikmttepp kglkanmtrl
     3961 yqlmsepqfs rcskpakykk llfslcffhs vllerkkflq lgwniiygfn dsdfevsenl
     4021 lslyldeyee tpwdalkyli aginygghvt ddwdrrlltt yindyfcdqs lstpfhrlsa
     4081 letyfipkdg slasykeyis llpgmdppea fgqhpnadva sqiteaqtlf dtllslqpqi
     4141 tptraggqtr eekvlelaad vkqkipemid yegtqkllal dpsplnvvll qeiqryntlm
     4201 qtilfsltdl ekgiqglivm stsleeifnc ifdahvpplw gkaypsqkpl aawtrdlamr
     4261 veqfelwasr arppvifwls gftfptgflt avlqssarqn nvsvdslswe fivstvddsn
     4321 lvyppkdgvw vrglylegag wdrknsclve aepmqlvclm ptihfrpaes rkksakgmys
     4381 cpcyyypnra gssdrasfvi gidlrsgamt pdhwikrgta llmslds
//
LOCUS       NP_001161687             159 aa            linear   PRI 30-DEC-2022
DEFINITION  transmembrane protein 92 precursor [Homo sapiens].
ACCESSION   NP_001161687
VERSION     NP_001161687.1
DBSOURCE    REFSEQ: accession NM_001168215.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 159)
  AUTHORS   Lin MZ, Teng LL, Sun XL, Zhang LP, Chen F and Yu LJ.
  TITLE     Transmembrane protein 92 performs a tumor-promoting function in
            breast carcinoma by contributing to the cell growth, invasion,
            migration and epithelial-mesenchymal transition
  JOURNAL   Tissue Cell 67, 101415 (2020)
   PUBMED   32835947
  REMARK    GeneRIF: Transmembrane protein 92 performs a tumor-promoting
            function in breast carcinoma by contributing to the cell growth,
            invasion, migration and epithelial-mesenchymal transition.
REFERENCE   2  (residues 1 to 159)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 159)
  AUTHORS   Li J, Wang J, Chen Y, Yang L and Chen S.
  TITLE     A prognostic 4-gene expression signature for squamous cell lung
            carcinoma
  JOURNAL   J Cell Physiol 232 (12), 3702-3713 (2017)
   PUBMED   28160492
REFERENCE   4  (residues 1 to 159)
  AUTHORS   Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS,
            Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih
            E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala
            S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ,
            Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z,
            Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al
            Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R,
            Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B,
            Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA,
            Monies DM and Alkuraya FS.
  TITLE     Accelerating novel candidate gene discovery in neurogenetic
            disorders via whole-exome sequencing of prescreened multiplex
            consanguineous families
  JOURNAL   Cell Rep 10 (2), 148-161 (2015)
   PUBMED   25558065
REFERENCE   5  (residues 1 to 159)
  AUTHORS   Listing H, Mardin WA, Wohlfromm S, Mees ST and Haier J.
  TITLE     MiR-23a/-24-induced gene silencing results in mesothelial cell
            integration of pancreatic cancer
  JOURNAL   Br J Cancer 112 (1), 131-139 (2015)
   PUBMED   25422915
REFERENCE   6  (residues 1 to 159)
  AUTHORS   Pei J and Grishin NV.
  TITLE     Unexpected diversity in Shisa-like proteins suggests the importance
            of their roles as transmembrane adaptors
  JOURNAL   Cell Signal 24 (3), 758-769 (2012)
   PUBMED   22120523
REFERENCE   7  (residues 1 to 159)
  AUTHORS   Wheeler HE, Metter EJ, Tanaka T, Absher D, Higgins J, Zahn JM,
            Wilhelmy J, Davis RW, Singleton A, Myers RM, Ferrucci L and Kim SK.
  TITLE     Sequential use of transcriptional profiling, expression
            quantitative trait mapping, and gene association implicates MMP20
            in human kidney aging
  JOURNAL   PLoS Genet 5 (10), e1000685 (2009)
   PUBMED   19834535
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 159)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY358204.1, AC015909.14, AK090637.1 and AW293202.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY358204.1, AA625286.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..159
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     Protein         1..159
                     /product="transmembrane protein 92 precursor"
                     /calculated_mol_wt=14566
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2681
     Site            58..78
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UXU6.1)"
     Region          122..159
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UXU6.1)"
     CDS             1..159
                     /gene="TMEM92"
                     /coded_by="NM_001168215.2:111..590"
                     /db_xref="CCDS:CCDS11562.1"
                     /db_xref="GeneID:162461"
                     /db_xref="HGNC:HGNC:26579"
                     /db_xref="MIM:619604"
ORIGIN      
        1 msqawvpgla ptllfsllag pqkiaakcgl ilacpkgfkc cgdsccqene lfpgpvrifv
       61 iiflvilsvf cicglakcfc rncrepepds pvdcrgplel psiippervr vslsappppy
      121 sevilkpslg ptpteppppy sfrpeeytgd qrgidnpaf
//
LOCUS       NP_001269110             391 aa            linear   PRI 30-DEC-2022
DEFINITION  serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit
            epsilon isoform isoform c [Homo sapiens].
ACCESSION   NP_001269110 XP_005267888
VERSION     NP_001269110.1
DBSOURCE    REFSEQ: accession NM_001282181.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 391)
  AUTHORS   Salamango DJ, McCann JL, Demir O, Becker JT, Wang J, Lingappa JR,
            Temiz NA, Brown WL, Amaro RE and Harris RS.
  TITLE     Functional and Structural Insights into a Vif/PPP2R5 Complex
            Elucidated Using Patient HIV-1 Isolates and Computational Modeling
  JOURNAL   J Virol 94 (21), e00631-20 (2020)
   PUBMED   32847850
  REMARK    GeneRIF: Functional and Structural Insights into a Vif/PPP2R5
            Complex Elucidated Using Patient HIV-1 Isolates and Computational
            Modeling.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 391)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 391)
  AUTHORS   Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers
            EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda
            R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen
            KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Revencu N,
            Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ,
            Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O,
            de Vries BBA, Gordon CT, Janssens V and Vissers LELM.
  TITLE     De Novo Mutations Affecting the Catalytic Calpha Subunit of PP2A,
            PPP2CA, Cause Syndromic Intellectual Disability Resembling Other
            PP2A-Related Neurodevelopmental Disorders
  JOURNAL   Am J Hum Genet 104 (1), 139-156 (2019)
   PUBMED   30595372
  REMARK    Erratum:[Am J Hum Genet. 2019 Feb 7;104(2):357. PMID: 30735662]
REFERENCE   4  (residues 1 to 391)
  AUTHORS   Virshup DM and Shenolikar S.
  TITLE     From promiscuity to precision: protein phosphatases get a makeover
  JOURNAL   Mol Cell 33 (5), 537-545 (2009)
   PUBMED   19285938
  REMARK    Review article
REFERENCE   5  (residues 1 to 391)
  AUTHORS   Eichhorn PJ, Creyghton MP and Bernards R.
  TITLE     Protein phosphatase 2A regulatory subunits and cancer
  JOURNAL   Biochim Biophys Acta 1795 (1), 1-15 (2009)
   PUBMED   18588945
  REMARK    Review article
REFERENCE   6  (residues 1 to 391)
  AUTHORS   Tung HY, De Rocquigny H, Zhao LJ, Cayla X, Roques BP and Ozon R.
  TITLE     Direct activation of protein phosphatase-2A0 by HIV-1 encoded
            protein complex NCp7:vpr
  JOURNAL   FEBS Lett 401 (2-3), 197-201 (1997)
   PUBMED   9013886
REFERENCE   7  (residues 1 to 391)
  AUTHORS   McCright B, Rivers AM, Audlin S and Virshup DM.
  TITLE     The B56 family of protein phosphatase 2A (PP2A) regulatory subunits
            encodes differentiation-induced phosphoproteins that target PP2A to
            both nucleus and cytoplasm
  JOURNAL   J Biol Chem 271 (36), 22081-22089 (1996)
   PUBMED   8703017
REFERENCE   8  (residues 1 to 391)
  AUTHORS   McCright B, Brothman AR and Virshup DM.
  TITLE     Assignment of human protein phosphatase 2A regulatory subunit genes
            b56alpha, b56beta, b56gamma, b56delta, and b56epsilon
            (PPP2R5A-PPP2R5E), highly expressed in muscle and brain, to
            chromosome regions 1q41, 11q12, 3p21, 6p21.1, and 7p11.2 --> p12
  JOURNAL   Genomics 36 (1), 168-170 (1996)
   PUBMED   8812429
REFERENCE   9  (residues 1 to 391)
  AUTHORS   Zolnierowicz S, Van Hoof C, Andjelkovic N, Cron P, Stevens I,
            Merlevede W, Goris J and Hemmings BA.
  TITLE     The variable subunit associated with protein phosphatase 2A0
            defines a novel multimember family of regulatory subunits
  JOURNAL   Biochem J 317 (Pt 1) (Pt 1), 187-194 (1996)
   PUBMED   8694763
REFERENCE   10 (residues 1 to 391)
  AUTHORS   McCright B and Virshup DM.
  TITLE     Identification of a new family of protein phosphatase 2A regulatory
            subunits
  JOURNAL   J Biol Chem 270 (44), 26123-26128 (1995)
   PUBMED   7592815
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK301796.1, BC093766.1,
            L76703.1, AW134792.1, CK820060.1, AA782601.1 and AL118555.6.
            On Aug 22, 2013 this sequence version replaced XP_005267888.1.
            
            Summary: The protein encoded by this gene belongs to the
            phosphatase 2A regulatory subunit B family. Protein phosphatase 2A
            is one of the four major Ser/Thr phosphatases, and it is implicated
            in the negative control of cell growth and division. It consists of
            a common heteromeric core enzyme, which is composed of a catalytic
            subunit and a constant regulatory subunit, that associates with a
            variety of regulatory subunits. The B regulatory subunit might
            modulate substrate selectivity and catalytic activity. This gene
            encodes an epsilon isoform of the regulatory subunit B56 subfamily.
            Multiple transcript variants encoding several different isoforms
            have been found for this gene. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (4) contains a distinct 5' UTR and
            lacks an in-frame portion of the 5' coding region, compared to
            variant 1. The resulting isoform (c) has a shorter N-terminus
            compared to isoform a. Variants 4 and 5 both encode the same
            isoform (c).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK301796.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..391
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.2"
     Protein         1..391
                     /product="serine/threonine-protein phosphatase 2A 56 kDa
                     regulatory subunit epsilon isoform isoform c"
                     /note="PP2A, B subunit, B' epsilon; PP2A, B subunit, B56
                     epsilon; PP2A, B subunit, PR61 epsilon; PP2A, B subunit,
                     R5 epsilon; serine/threonine protein phosphatase 2A, 56
                     kDa regulatory subunit, epsilon; protein phosphatase 2
                     regulatory subunit B', epsilon"
                     /calculated_mol_wt=46049
     Region          2..359
                     /region_name="B56"
                     /note="Protein phosphatase 2A regulatory B subunit (B56
                     family); pfam01603"
                     /db_xref="CDD:426341"
     CDS             1..391
                     /gene="PPP2R5E"
                     /gene_synonym="B56E; B56epsilon"
                     /coded_by="NM_001282181.3:186..1361"
                     /note="isoform c is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS61467.1"
                     /db_xref="GeneID:5529"
                     /db_xref="HGNC:HGNC:9313"
                     /db_xref="MIM:601647"
ORIGIN      
        1 mdtlsdlkmk eykrstlnel vdyitisrgc lteqtypevv rmvscnifrt lppsdsnefd
       61 peedeptlea swphlqlvye ffirflesqe fqpsiakkyi dqkfvlqlle lfdsedprer
      121 dylktvlhri ygkflglraf irkqinnifl rfvyetehfn gvaelleilg siingfalpl
      181 kaehkqflvk vliplhtvrs lslfhaqlay civqflekdp sltepvirgl mkfwpktcsq
      241 kevmflgele eildviepsq fvkiqeplfk qiakcvssph fqvaeralyy wnneyimsli
      301 eensnvilpi mfsslyrisk ehwnpaival vynvlkafme mnstmfdelt atyksdrqre
      361 kkkekereel wkkledlelk rglrrdgiip t
//
LOCUS       NP_001376568             651 aa            linear   PRI 31-DEC-2022
DEFINITION  glycerol-3-phosphate acyltransferase 2, mitochondrial isoform 9
            [Homo sapiens].
ACCESSION   NP_001376568
VERSION     NP_001376568.1
DBSOURCE    REFSEQ: accession NM_001389639.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 651)
  AUTHORS   Pellon-Maison M, Montanaro MA, Lacunza E, Garcia-Fabiani MB,
            Soler-Gerino MC, Cattaneo ER, Quiroga IY, Abba MC, Coleman RA and
            Gonzalez-Baro MR.
  TITLE     Glycerol-3-phosphate acyltranferase-2 behaves as a cancer testis
            gene and promotes growth and tumorigenicity of the breast cancer
            MDA-MB-231 cell line
  JOURNAL   PLoS One 9 (6), e100896 (2014)
   PUBMED   24967918
  REMARK    GeneRIF: GPAT2 as a cancer testis gene
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 651)
  AUTHORS   Shiromoto Y, Kuramochi-Miyagawa S, Daiba A, Chuma S, Katanaya A,
            Katsumata A, Nishimura K, Ohtaka M, Nakanishi M, Nakamura T,
            Yoshinaga K, Asada N, Nakamura S, Yasunaga T, Kojima-Kita K, Itou
            D, Kimura T and Nakano T.
  TITLE     GPAT2, a mitochondrial outer membrane protein, in piRNA biogenesis
            in germline stem cells
  JOURNAL   RNA 19 (6), 803-810 (2013)
   PUBMED   23611983
REFERENCE   3  (residues 1 to 651)
  AUTHORS   Gimeno RE and Cao J.
  TITLE     Thematic review series: glycerolipids. Mammalian
            glycerol-3-phosphate acyltransferases: new genes for an old
            activity
  JOURNAL   J Lipid Res 49 (10), 2079-2088 (2008)
   PUBMED   18658143
  REMARK    Review article
REFERENCE   4  (residues 1 to 651)
  AUTHORS   Chen YQ, Kuo MS, Li S, Bui HH, Peake DA, Sanders PE, Thibodeaux SJ,
            Chu S, Qian YW, Zhao Y, Bredt DS, Moller DE, Konrad RJ, Beigneux
            AP, Young SG and Cao G.
  TITLE     AGPAT6 is a novel microsomal glycerol-3-phosphate acyltransferase
  JOURNAL   J Biol Chem 283 (15), 10048-10057 (2008)
   PUBMED   18238778
REFERENCE   5  (residues 1 to 651)
  AUTHORS   Wang S, Lee DP, Gong N, Schwerbrock NM, Mashek DG, Gonzalez-Baro
            MR, Stapleton C, Li LO, Lewin TM and Coleman RA.
  TITLE     Cloning and functional characterization of a novel mitochondrial
            N-ethylmaleimide-sensitive glycerol-3-phosphate acyltransferase
            (GPAT2)
  JOURNAL   Arch Biochem Biophys 465 (2), 347-358 (2007)
   PUBMED   17689486
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC013272.5.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1965299, SAMEA1966682
                              [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..651
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     Protein         1..651
                     /product="glycerol-3-phosphate acyltransferase 2,
                     mitochondrial isoform 9"
                     /EC_number="2.3.1.51"
                     /EC_number="2.3.1.15"
                     /note="cancer/testis antigen 123;
                     1-acylglycerol-3-phosphate O-acyltransferase GPAT2"
                     /calculated_mol_wt=71077
     Region          1..21
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NUI2.2)"
     Region          176..388
                     /region_name="LPLAT_DHAPAT-like"
                     /note="Lysophospholipid Acyltransferases (LPLATs) of
                     Glycerophospholipid Biosynthesis: GPAT-like; cd07993"
                     /db_xref="CDD:153255"
     Region          180..331
                     /region_name="Acyltransferase"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NUI2.2)"
     Site            order(205,208,210,231..234,291..293)
                     /site_type="active"
                     /note="putative acyl-acceptor binding pocket [active]"
                     /db_xref="CDD:153255"
     Region          205..210
                     /region_name="HXXXXD motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NUI2.2)"
     Site            306..332
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NUI2.2)"
     Site            450..472
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NUI2.2)"
     CDS             1..651
                     /gene="GPAT2"
                     /gene_synonym="CT123"
                     /coded_by="NM_001389639.1:717..2672"
                     /note="isoform 9 is encoded by transcript variant 9"
                     /db_xref="GeneID:150763"
                     /db_xref="HGNC:HGNC:27168"
                     /db_xref="MIM:616431"
ORIGIN      
        1 matmlegrcq tqprsspsgr easlwssgfg mkleavtpfl gkyrpfvgrc cqtctpkswe
       61 slfhrsitdl gfcnvilvke entrfrgwlv rrlcyflwsl eqhippcqdv pqkimestgv
      121 qnllsgrvpg gtgegqvpdl vkkevqrilg hiqapprpfl vrlfswallr flnclflnvq
      181 lhkgqmkmvq kaaqaglplv llsthktlld gillpfmlls qglgvlrvaw dsracspalr
      241 allrklgglf lppeaslsld ssegllarav vqavieqllv sgqpllifle eppgalgprl
      301 salgqawvgf vvqavqvgiv pdallvpvav tydlvpdapc didhasaplg lwtgalavlr
      361 slwsrwgcsh ricsrvhlaq pfslqeyivs arscwggrqt leqllqpivl gqctavpdte
      421 keqewtpitg pllalkeedq llvrrlschv lsasvgssav mstaimatll lfkhqkgvfl
      481 sqllgefswl teeillrgfd vgfsgqlrsl lqhslsllra hvallrirqg dllvvpqpgp
      541 glthlaqlsa ellpvflsea vgacavrgll agrvppqgpw elqgilllsq nelyrqilll
      601 mhllpqdlll lkswatqssc ssscrppprk kgsssvrtqs spsvlsgpse t
//
LOCUS       NP_055806               3526 aa            linear   PRI 22-JAN-2023
DEFINITION  WD repeat and FYVE domain-containing protein 3 [Homo sapiens].
ACCESSION   NP_055806 XP_005262916
VERSION     NP_055806.2
DBSOURCE    REFSEQ: accession NM_014991.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 3526)
  AUTHORS   Shi J, Wu X, Wang Z, Li F, Meng Y, Moore RM, Cui J, Xue C, Croce
            KR, Yurdagul A Jr, Doench JG, Li W, Zarbalis KS, Tabas I, Yamamoto
            A and Zhang H.
  TITLE     A genome-wide CRISPR screen identifies WDFY3 as a regulator of
            macrophage efferocytosis
  JOURNAL   Nat Commun 13 (1), 7929 (2022)
   PUBMED   36566259
  REMARK    GeneRIF: A genome-wide CRISPR screen identifies WDFY3 as a
            regulator of macrophage efferocytosis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 3526)
  AUTHORS   Soreng K, Pankiv S, Bergsmark C, Haugsten EM, Dahl AK, de la
            Ballina LR, Yamamoto A, Lystad AH and Simonsen A.
  TITLE     ALFY localizes to early endosomes and cellular protrusions to
            facilitate directional cell migration
  JOURNAL   J Cell Sci 135 (4) (2022)
   PUBMED   35099014
  REMARK    GeneRIF: ALFY localizes to early endosomes and cellular protrusions
            to facilitate directional cell migration.
REFERENCE   3  (residues 1 to 3526)
  AUTHORS   Reinhart EF, Litt NA, Katzenell S, Pellegrini M, Yamamoto A and
            Ragusa MJ.
  TITLE     A highly conserved glutamic acid in ALFY inhibits membrane binding
            to aid in aggregate clearance
  JOURNAL   Traffic 22 (1-2), 23-37 (2021)
   PUBMED   33225481
  REMARK    GeneRIF: A highly conserved glutamic acid in ALFY inhibits membrane
            binding to aid in aggregate clearance.
REFERENCE   4  (residues 1 to 3526)
  AUTHORS   Fox LM, Kim K, Johnson CW, Chen S, Croce KR, Victor MB, Eenjes E,
            Bosco JR, Randolph LK, Dragatsis I, Dragich JM, Yoo AS and Yamamoto
            A.
  TITLE     Huntington's Disease Pathogenesis Is Modified In Vivo by Alfy/Wdfy3
            and Selective Macroautophagy
  JOURNAL   Neuron 105 (5), 813-821 (2020)
   PUBMED   31899071
  REMARK    GeneRIF: Alfy is required in the adult brain for the
            autophagy-dependent clearance of proteinaceous deposits, and its
            depletion in neurons derived from Huntington's disease patient
            fibroblasts accelerates the aberrant accumulation of this
            pathological hallmark shared across adult-onset neurodegenerative
            diseases.
REFERENCE   5  (residues 1 to 3526)
  AUTHORS   Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan
            De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend
            R, Begtrup A, Brown NJ, Buttner B, Cho MT, Cooper GM, Doering JH,
            Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B,
            Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R,
            Quelin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh
            L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L,
            Martinez-Cerdeno V, Silverman JL, Crawley JN, Scherer SW, Zarbalis
            KS and Jamra R.
  TITLE     Pathogenic WDFY3 variants cause neurodevelopmental disorders and
            opposing effects on brain size
  JOURNAL   Brain 142 (9), 2617-2630 (2019)
   PUBMED   31327001
  REMARK    GeneRIF: Proliferating cortical neural progenitors of human
            embryonic brain regions highly express WDFY3.
            Erratum:[Brain. 2019 Nov 1;142(11):e63. PMID: 31406988]
REFERENCE   6  (residues 1 to 3526)
  AUTHORS   Deretic V.
  TITLE     A master conductor for aggregate clearance by autophagy
  JOURNAL   Dev Cell 18 (5), 694-696 (2010)
   PUBMED   20493804
REFERENCE   7  (residues 1 to 3526)
  AUTHORS   Filimonenko M, Isakson P, Finley KD, Anderson M, Jeong H, Melia TJ,
            Bartlett BJ, Myers KM, Birkeland HC, Lamark T, Krainc D, Brech A,
            Stenmark H, Simonsen A and Yamamoto A.
  TITLE     The selective macroautophagic degradation of aggregated proteins
            requires the PI3P-binding protein Alfy
  JOURNAL   Mol Cell 38 (2), 265-279 (2010)
   PUBMED   20417604
  REMARK    GeneRIF: The selective macroautophagic degradation of aggregated
            proteins requires the PI3P-binding protein Alfy.
REFERENCE   8  (residues 1 to 3526)
  AUTHORS   Clausen TH, Lamark T, Isakson P, Finley K, Larsen KB, Brech A,
            Overvatn A, Stenmark H, Bjorkoy G, Simonsen A and Johansen T.
  TITLE     p62/SQSTM1 and ALFY interact to facilitate the formation of p62
            bodies/ALIS and their degradation by autophagy
  JOURNAL   Autophagy 6 (3), 330-344 (2010)
   PUBMED   20168092
  REMARK    GeneRIF: Data suggest that p62 and ALFY interact to organize
            misfolded, ubiquitinated proteins into protein bodies that become
            degraded by autophagy.
REFERENCE   9  (residues 1 to 3526)
  AUTHORS   Komatsu M, Waguri S, Koike M, Sou YS, Ueno T, Hara T, Mizushima N,
            Iwata J, Ezaki J, Murata S, Hamazaki J, Nishito Y, Iemura S,
            Natsume T, Yanagawa T, Uwayama J, Warabi E, Yoshida H, Ishii T,
            Kobayashi A, Yamamoto M, Yue Z, Uchiyama Y, Kominami E and Tanaka
            K.
  TITLE     Homeostatic levels of p62 control cytoplasmic inclusion body
            formation in autophagy-deficient mice
  JOURNAL   Cell 131 (6), 1149-1163 (2007)
   PUBMED   18083104
REFERENCE   10 (residues 1 to 3526)
  AUTHORS   Simonsen A, Birkeland HC, Gillooly DJ, Mizushima N, Kuma A,
            Yoshimori T, Slagsvold T, Brech A and Stenmark H.
  TITLE     Alfy, a novel FYVE-domain-containing protein associated with
            protein granules and autophagic membranes
  JOURNAL   J Cell Sci 117 (Pt 18), 4239-4251 (2004)
   PUBMED   15292400
  REMARK    GeneRIF: Alfy might target cytosolic protein aggregates for
            autophagic degradation.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC108021.3, AC095046.3 and
            AC104082.3.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Aug 31, 2013 this sequence version replaced
            XP_005262916.1, NP_055806.1.
            
            Summary: This gene encodes a phosphatidylinositol
            3-phosphate-binding protein that functions as a master conductor
            for aggregate clearance by autophagy. This protein shuttles from
            the nuclear membrane to colocalize with aggregated proteins, where
            it complexes with other autophagic components to achieve
            macroautophagy-mediated clearance of these aggregated proteins.
            However, it is not necessary for starvation-induced macroautophagy.
            [provided by RefSeq, May 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295888.9/ ENSP00000295888.4
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..3526
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.23"
     Protein         1..3526
                     /product="WD repeat and FYVE domain-containing protein 3"
                     /note="autophagy-linked FYVE protein"
                     /calculated_mol_wt=395129
     Site            1942
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6VNB8; propagated from
                     UniProtKB/Swiss-Prot (Q8IZQ1.2)"
     Site            2278
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IZQ1.2)"
     Region          2285..2981
                     /region_name="Sufficient for localization to p62
                     bodies/ALIS. /evidence=ECO:0000269|PubMed:20168092"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZQ1.2)"
     Region          2403..2429
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZQ1.2)"
     Region          2459..2522
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZQ1.2)"
     Site            2492
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6VNB8; propagated from
                     UniProtKB/Swiss-Prot (Q8IZQ1.2)"
     Region          2534..2657
                     /region_name="PH_BEACH"
                     /note="Pleckstrin homology domain in BEACH domain
                     containing proteins; cd01201"
                     /db_xref="CDD:275391"
     Region          2586..3526
                     /region_name="Interaction with SQSTM1.
                     /evidence=ECO:0000269|PubMed:20168092"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZQ1.2)"
     Region          2695..2976
                     /region_name="Beach"
                     /note="Beige/BEACH domain; smart01026"
                     /db_xref="CDD:214982"
     Region          2981..3526
                     /region_name="Interaction with ATG5.
                     /evidence=ECO:0000269|PubMed:20417604"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZQ1.2)"
     Region          3084..>3246
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          3084..3125
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3131..3167
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3172..3209
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3216..3255
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3272..3335
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZQ1.2)"
     Region          3313..3363
                     /region_name="Interaction with GABARAP.
                     /evidence=ECO:0000269|PubMed:24668264"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZQ1.2)"
     Site            3335
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6VNB8; propagated from
                     UniProtKB/Swiss-Prot (Q8IZQ1.2)"
     Site            3339
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IZQ1.2)"
     Region          3346..3349
                     /region_name="LC3-interacting region (LIR).
                     /evidence=ECO:0000303|PubMed:24668264"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZQ1.2)"
     Region          3449..3513
                     /region_name="FYVE_WDFY3"
                     /note="FYVE domain found in WD40 repeat and FYVE
                     domain-containing protein 3 (WDFY3) and similar proteins;
                     cd15719"
                     /db_xref="CDD:277259"
     Site            order(3451,3454,3472..3477,3479..3480,3504..3506)
                     /site_type="other"
                     /note="putative phosphatidylinositol 3-phosphate binding
                     site [chemical binding]"
                     /db_xref="CDD:277259"
     Site            order(3460,3463,3476,3479,3484,3487,3506,3509)
                     /site_type="other"
                     /note="putative Zn binding site [ion binding]"
                     /db_xref="CDD:277259"
     CDS             1..3526
                     /gene="WDFY3"
                     /gene_synonym="ALFY; BCHS; MCPH18; ZFYVE25"
                     /coded_by="NM_014991.6:708..11288"
                     /db_xref="CCDS:CCDS3609.1"
                     /db_xref="GeneID:23001"
                     /db_xref="HGNC:HGNC:20751"
                     /db_xref="MIM:617485"
ORIGIN      
        1 mnmvkrimgr prqeecspqd nalglmhlrr lftelchppr hmtqkeqeek lymmlpvfnr
       61 vfgnappntm tekfsdllqf ttqvsrlmvt eirrrasnks teaasraivq fleinqseea
      121 srgwmlltti nllassgqkt vdcmttmsvp stlvkclylf fdlphvpeav ggaqnelpla
      181 errgllqkvf vqilvklcsf vspaeelaqk ddlqllfsai tswcppynlp wrksagevlm
      241 tisrhglsvn vvkyihekec lstcvqnmqq sddlspleiv emfaglscfl kdssdvsqtl
      301 lddfriwqgy nflcdlllrl eqakeaeskd alkdlvnlit slttygvsel kpagittgap
      361 fllpgfavpq pagkghsvrn vqafavlqna flkaktsfla qiildaitni ymadnanyfi
      421 lesqhtlsqf aekisklpev qnkyfemlef vvfslnyipc kelisvsill kssssyhcsi
      481 iamktllkft rhdyifkdvf revgllevmv nllhkyaall kdptqalneq gdsrnnssve
      541 dqkhlallvm etltvllqgs ntnagifref ggarcahniv kypqcrqhal mtiqqlvlsp
      601 ngdddmgtll glmhsappte lqlktdilra llsvlreshr srtvfrkvgg fvyitsllva
      661 merslscppk ngwekvnqnq vfellhtvfc tltaamryep anshffktei qyekladavr
      721 flgcfsdlrk isamnvfpsn tqpfqrllee dvisiesvsp tlrhcsklfi ylykvatdsf
      781 dsraeqippc ltsesslpsp wgtpalsrkr hayhsvstpp vyppknvadl klhvttsslq
      841 ssdaviihpg amlamldlla svgsvtqpeh aldlqlavan ilqslvhter nqqvmceagl
      901 harllqrcsa aladedhslh pplqrmferl asqalepmvl reflrlaspl ncgawdkkll
      961 kqyrvhkpss lsyepemrss mitsleglgt dnvfslhedn hyriskslvk saegstvplt
     1021 rvkclvsmtt phdirlhgss vtpafvefdt slegfgclfl pslaphnapt nntvttglid
     1081 gavvsgigsg erffpppsgl sysswfcieh fssppnnhpv rlltvvrran sseqhyvcla
     1141 ivlsakdrsl ivstkeellq nyvddfsees sfyeilpcca rfrcgeliie gqwhhlvlvm
     1201 skgmlknsta alyidgqlvn tvklhyvhst pggsgsanpp vvstvyayig tppaqrqias
     1261 lvwrlgpthf leevlpssnv ttiyelgpny vgsfqavcmp ckdaksegvv pspvslvpee
     1321 kvsfglyals vssltvarir kvynkldska iakqlgissh enatpvklih nsaghlngsa
     1381 rtigaaligy lgvrtfvpkp vattlqyvgg aaailglvam asdveglyaa vkalvcvvks
     1441 nplaskemer ikgyqllaml lkkkrsllns hilhltfslv gtvdsghets iipnstafqd
     1501 llcdfevwlh apyelhlslf ehfielltes seasknaklm refqlipkll ltlrdmslsq
     1561 ptiaaisnvl sfllqgfpss ndllrfgqfi sstlptfavc ekfvvmeinn eekldtgtee
     1621 efgglvsanl illrnrlldi llkliytske ktsinlqace elvktlgfdw immfmeehlh
     1681 sttvtaamri lvvllsnqsi likfkeglsg ggwleqtdsv ltnkigtvlg fnvgrsaggr
     1741 stvreinrda chfpgfpvlq sflpkhtnvp alyfllmalf lqqpvselpe nlqvsvpvis
     1801 crskqgcqfd ldsiwtfifg vpassgtvvs sihnvcteav flllgmlrsm ltspwqseee
     1861 gswlreypvt lmqffrylyh nvpdlasmwm spdflcalaa tvfpfnirpy semvtdldde
     1921 vgspaeefka faadtgmnrs qseycnvgtk tyltnhpakk fvfdfmrvli idnlcltpas
     1981 kqtplidlll easperstrt qqkefqtyil dsvmdhllaa dvllgedasl pitsggsyqv
     2041 lvnnvfyftq rvvdklwqgm fnkeskllid fiiqliaqsk rrsqglslda vyhclnrtil
     2101 yqfsrahktv pqqvalldsl rvltvnrnli lgpgnhdqef isclahclin lhvgsnvdgf
     2161 gleaearmtt whimipsdie pdgsysqdis egrqllikav nrvwtelihs kkqvleelfk
     2221 vtlpvnergh vdiatarpli eeaalkcwqn hlahekkcis rgealapttq sklsrvssgf
     2281 glskltgsrr nrkesglnkh slstqeisqw mfthiavvrd lvdtqykeyq erqqnalkyv
     2341 teewcqiece llrerglwgp pigshldkwm lemtegpcrm rkkmvrndmf ynhypyvpet
     2401 eqetnvasei pskqpetpdd ipqkkparyr ravsydskey ymrlasgnpa ivqdaivess
     2461 egeaaqqepe hgedtiakvk glvkpplkrs rsapdggdee nqeqlqdqia egssieeeek
     2521 tdnatllrll eegekiqhmy rcarvqgldt seglllfgke hfyvidgftm tatreirdie
     2581 tlppnmhepi iprgarqgps qlkrtcsifa yedikevhkr ryllqpiave vfsgdgrnyl
     2641 lafqkgirnk vyqrflavvp sltdssesvs gqrpntsveq gsgllstlvg eksvtqrwer
     2701 geisnfqylm hlntlagrsy ndlmqypvfp wiladydsee vdltnpktfr nlakpmgaqt
     2761 derlaqykkr ykdwedpnge tpayhygthy ssamivasyl vrmepftqif lrlqgghfdl
     2821 adrmfhsvre awysaskhnm advkelipef fylpeflfns nnfdlgckqn gtklgdvilp
     2881 pwakgdpref irvhrealec dyvsahlhew idlifgykqq gpaaveavnv fhhlfyegqv
     2941 diynindplk etatigfinn fgqipkqlfk kphppkrvrs rlngdnagis vlpgstsdki
     3001 ffhhldnlrp sltpvkelke pvgqivctdk gilaveqnkv lipptwnktf awgyadlscr
     3061 lgtyesdkam tvyeclsewg qilcaicpnp klvitggtst vvcvwemgts kekaktvtlk
     3121 qallghtdtv tcataslayh iivsgsrdrt ciiwdlnkls fltqlrghra pvsalcinel
     3181 tgdivscagt yihvwsingn pivsvntftg rsqqiicccm semnewdtqn vivtghsdgv
     3241 vrfwrmeflq vpetpapepa evlemqedcp eaqigqeaqd edssdseade qsisqdpkdt
     3301 psqpsstshr praascrata awctdsgsdd srrwsdqlsl dekdgfifvn ysegqtrahl
     3361 qgplshphpn pievrnysrl kpgyrwerql vfrskltmht afdrkdnahp aevtalgisk
     3421 dhsrilvgds rgrvfswsvs dqpgrsaadh wvkdeggdsc sgcsvrfslt errhhcrncg
     3481 qlfcqkcsrf qseikrlkis spvrvcqncy ynlqhergse dgprnc
//
LOCUS       NP_001354388             636 aa            linear   PRI 12-FEB-2023
DEFINITION  huntingtin-associated protein 1 isoform 5 [Homo sapiens].
ACCESSION   NP_001354388
VERSION     NP_001354388.1
DBSOURCE    REFSEQ: accession NM_001367459.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 636)
  AUTHORS   Qu YM, Chen A, Zhao X, Wang Z, Guo D, Shao SL, Tao YY, Li QJ, Wang
            MY and Ma WS.
  TITLE     Huntingtin-associated protein 1 is a potential tumor suppressor for
            gastric cancer
  JOURNAL   Mol Biol Rep 50 (2), 1517-1531 (2023)
   PUBMED   36509909
  REMARK    GeneRIF: Huntingtin-associated protein 1 is a potential tumor
            suppressor for gastric cancer.
REFERENCE   2  (residues 1 to 636)
  AUTHORS   Chen X, Sun Y, Chen L, Chen XS, Pan M, Zhang Y, Wang Q, Yang W, Yin
            P, He D, Guo X, Yang S, Zeng Y, Yan S, Li XJ and Li S.
  TITLE     Differential expression and roles of Huntingtin and
            Huntingtin-associated protein 1 in the mouse and primate brains
  JOURNAL   Cell Mol Life Sci 79 (11), 554 (2022)
   PUBMED   36251080
  REMARK    GeneRIF: Differential expression and roles of Huntingtin and
            Huntingtin-associated protein 1 in the mouse and primate brains.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 636)
  AUTHORS   Cason SE, Carman PJ, Van Duyne C, Goldsmith J, Dominguez R and
            Holzbaur ELF.
  TITLE     Sequential dynein effectors regulate axonal autophagosome motility
            in a maturation-dependent pathway
  JOURNAL   J Cell Biol 220 (7) (2021)
   PUBMED   34014261
  REMARK    GeneRIF: Sequential dynein effectors regulate axonal autophagosome
            motility in a maturation-dependent pathway.
REFERENCE   4  (residues 1 to 636)
  AUTHORS   Beigl TB, Kjosas I, Seljeseth E, Glomnes N and Aksnes H.
  TITLE     Efficient and crucial quality control of HAP1 cell ploidy status
  JOURNAL   Biol Open 9 (11) (2020)
   PUBMED   33184093
  REMARK    GeneRIF: Efficient and crucial quality control of HAP1 cell ploidy
            status.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 636)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 636)
  AUTHORS   Nasir J, Lafuente MJ, Duan K, Colomer V, Engelender S, Ingersoll R,
            Margolis RL, Ross CA and Hayden MR.
  TITLE     Human huntingtin-associated protein (HAP-1) gene: genomic
            organisation and an intragenic polymorphism
  JOURNAL   Gene 254 (1-2), 181-187 (2000)
   PUBMED   10974549
REFERENCE   7  (residues 1 to 636)
  AUTHORS   Gutekunst CA, Li SH, Yi H, Ferrante RJ, Li XJ and Hersch SM.
  TITLE     The cellular and subcellular localization of huntingtin-associated
            protein 1 (HAP1): comparison with huntingtin in rat and human
  JOURNAL   J Neurosci 18 (19), 7674-7686 (1998)
   PUBMED   9742138
REFERENCE   8  (residues 1 to 636)
  AUTHORS   Li SH, Hosseini SH, Gutekunst CA, Hersch SM, Ferrante RJ and Li XJ.
  TITLE     A human HAP1 homologue. Cloning, expression, and interaction with
            huntingtin
  JOURNAL   J Biol Chem 273 (30), 19220-19227 (1998)
   PUBMED   9668110
  REMARK    Erratum:[J Biol Chem 1999 Apr 2;274(14):9906]
REFERENCE   9  (residues 1 to 636)
  AUTHORS   Engelender S, Sharp AH, Colomer V, Tokito MK, Lanahan A, Worley P,
            Holzbaur EL and Ross CA.
  TITLE     Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued
            subunit of dynactin
  JOURNAL   Hum Mol Genet 6 (13), 2205-2212 (1997)
   PUBMED   9361024
REFERENCE   10 (residues 1 to 636)
  AUTHORS   Li XJ, Li SH, Sharp AH, Nucifora FC Jr, Schilling G, Lanahan A,
            Worley P, Snyder SH and Ross CA.
  TITLE     A huntingtin-associated protein enriched in brain with implications
            for pathology
  JOURNAL   Nature 378 (6555), 398-402 (1995)
   PUBMED   7477378
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC109319.17.
            
            Summary: Huntington's disease (HD), a neurodegenerative disorder
            characterized by loss of striatal neurons, is caused by an
            expansion of a polyglutamine tract in the HD protein huntingtin.
            This gene encodes a protein that interacts with huntingtin, with
            two cytoskeletal proteins (dynactin and pericentriolar autoantigen
            protein 1), and with a hepatocyte growth factor-regulated tyrosine
            kinase substrate. The interactions with cytoskeletal proteins and a
            kinase substrate suggest a role for this protein in vesicular
            trafficking or organelle transport. Several alternatively spliced
            transcript variants encoding different isoforms have been described
            for this gene. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.181648.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..636
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     Protein         1..636
                     /product="huntingtin-associated protein 1 isoform 5"
                     /note="huntingtin-associated protein 2; neuroan 1; HAP-1;
                     epididymis secretory sperm binding protein"
                     /calculated_mol_wt=71563
     Region          107..471
                     /region_name="HAP1_N"
                     /note="HAP1 N-terminal conserved region; pfam04849"
                     /db_xref="CDD:428156"
     CDS             1..636
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /coded_by="NM_001367459.1:10..1920"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:9001"
                     /db_xref="HGNC:HGNC:4812"
                     /db_xref="MIM:600947"
ORIGIN      
        1 mrpkrlgrcc agsrlgpgdp aaltcapsps aspapepsaq pqargtgqrv gsratsgsqf
       61 lseartgarp aseagakaga rrpsafsaiq gdvrsmpdns dapwtrfvfq gpfgsratgr
      121 gtgkaagiwk tpaayvgrrp gvsgperaaf ireleealcp nlpppvkkit qedvkvmlyl
      181 leellppvwe svtygmvlqr erdlntaari gqslvkqnsv lmeensklea llgsakeeil
      241 ylrhqvnlrd ellqlysdsd eededeeeee eekeaeeeqe eeeaeedlqc ahpcdapkli
      301 sqeallhqhh cpqlealqek lrlleeenhq lreeasqldt ledeeqmlil ecveqfseas
      361 qqmaelsevl vlrlenyerq qqevarlqaq vlklqqrcrm dslmclgrla gsrgcpewvg
      421 lrwgftgfgs fqygaetekl qkqlasekei qmqlqeeetl pgfqetlaee lrtslrrmis
      481 dpvyfmerny emprgdtssl rydfrysedr eqvrgfeaee glmlaadimr gedftpaeef
      541 vpqeelgaak kvpaeegvme eaelvseete gweeveleld eatrmnvvts aleasglgps
      601 hldmnyvlqq lanwqdahyr rqlrwkmlqk epqprt
//
LOCUS       NP_001356379             385 aa            linear   PRI 26-FEB-2023
DEFINITION  WD repeat-containing protein 74 isoform 1 [Homo sapiens].
ACCESSION   NP_001356379 NP_001356381
VERSION     NP_001356379.1
DBSOURCE    REFSEQ: accession NM_001369450.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 385)
  AUTHORS   Wu F, Wu H, Hu W, Zhang Z and Zhang X.
  TITLE     WDR74 rs11231247 contributes to the susceptibility and prognosis of
            non-small cell lung cancer
  JOURNAL   Pathol Res Pract 242, 154318 (2023)
   PUBMED   36701849
  REMARK    GeneRIF: WDR74 rs11231247 contributes to the susceptibility and
            prognosis of non-small cell lung cancer.
REFERENCE   2  (residues 1 to 385)
  AUTHORS   Li Y, Zhou Y, Li B, Chen F, Shen W, Lu Y, Zhong C, Zhang C, Xie H,
            Katanaev VL and Jia L.
  TITLE     WDR74 modulates melanoma tumorigenesis and metastasis through the
            RPL5-MDM2-p53 pathway
  JOURNAL   Oncogene 39 (13), 2741-2755 (2020)
   PUBMED   32005977
  REMARK    GeneRIF: WDR74 modulates melanoma tumorigenesis and metastasis
            through the RPL5-MDM2-p53 pathway.
REFERENCE   3  (residues 1 to 385)
  AUTHORS   Li Y, Chen F, Shen W, Li B, Xiang R, Qu L, Zhang C, Li G, Xie H,
            Katanaev VL and Jia L.
  TITLE     WDR74 induces nuclear beta-catenin accumulation and activates
            Wnt-responsive genes to promote lung cancer growth and metastasis
  JOURNAL   Cancer Lett 471, 103-115 (2020)
   PUBMED   31838084
  REMARK    GeneRIF: WDR74 induces nuclear beta-catenin accumulation and
            activates Wnt-responsive genes to promote lung cancer growth and
            metastasis.
REFERENCE   4  (residues 1 to 385)
  AUTHORS   Liu J, Zhao M, Yuan B, Gu S, Zheng M, Zou J, Jin J, Liu T and Feng
            XH.
  TITLE     WDR74 functions as a novel coactivator in TGF-beta signaling
  JOURNAL   J Genet Genomics 45 (12), 639-650 (2018)
   PUBMED   30594465
  REMARK    GeneRIF: Through direct interactions with Smad proteins, WDR74
            enhances TGF-beta-mediated phosphorylation and nuclear accumulation
            of Smad2 and Smad3.
REFERENCE   5  (residues 1 to 385)
  AUTHORS   Hiraishi N, Ishida YI, Sudo H and Nagahama M.
  TITLE     WDR74 participates in an early cleavage of the pre-rRNA processing
            pathway in cooperation with the nucleolar AAA-ATPase NVL2
  JOURNAL   Biochem Biophys Res Commun 495 (1), 116-123 (2018)
   PUBMED   29107693
  REMARK    GeneRIF: knockdown of WDR74 leads to significant defects in the
            pre-rRNA cleavage within the internal transcribed spacer 1,
            occurring in an early stage of the processing pathway. When the
            dissociation of WDR74 from the MTR4-containing exonuclease complex
            was impaired upon expression of mutant NVL2, the same processing
            defect, with partial migration of WDR74 from the nucleolus towards
            the nucleoplasm, was observed.
REFERENCE   6  (residues 1 to 385)
  AUTHORS   Lo YH, Romes EM, Pillon MC, Sobhany M and Stanley RE.
  TITLE     Structural Analysis Reveals Features of Ribosome Assembly Factor
            Nsa1/WDR74 Important for Localization and Interaction with
            Rix7/NVL2
  JOURNAL   Structure 25 (5), 762-772 (2017)
   PUBMED   28416111
REFERENCE   7  (residues 1 to 385)
  AUTHORS   Hiraishi N, Ishida Y and Nagahama M.
  TITLE     AAA-ATPase NVL2 acts on MTR4-exosome complex to dissociate the
            nucleolar protein WDR74
  JOURNAL   Biochem Biophys Res Commun 467 (3), 534-540 (2015)
   PUBMED   26456651
  REMARK    GeneRIF: results suggest that WDR74 is a novel regulatory protein
            of the MTR4-exsosome complex whose interaction is regulated by NVL2
            and is involved in ribosome biogenesis
REFERENCE   8  (residues 1 to 385)
  AUTHORS   Eilbracht J, Reichenzeller M, Hergt M, Schnolzer M, Heid H, Stohr
            M, Franke WW and Schmidt-Zachmann MS.
  TITLE     NO66, a highly conserved dual location protein in the nucleolus and
            in a special type of synchronously replicating chromatin
  JOURNAL   Mol Biol Cell 15 (4), 1816-1832 (2004)
   PUBMED   14742713
REFERENCE   9  (residues 1 to 385)
  AUTHORS   Scherl A, Coute Y, Deon C, Calle A, Kindbeiter K, Sanchez JC, Greco
            A, Hochstrasser D and Diaz JJ.
  TITLE     Functional proteomic analysis of human nucleolus
  JOURNAL   Mol Biol Cell 13 (11), 4100-4109 (2002)
   PUBMED   12429849
REFERENCE   10 (residues 1 to 385)
  AUTHORS   Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M and
            Lamond AI.
  TITLE     Directed proteomic analysis of the human nucleolus
  JOURNAL   Curr Biol 12 (1), 1-11 (2002)
   PUBMED   11790298
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001160.4.
            On May 20, 2019 this sequence version replaced NP_001356381.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.131235.1,
                                           SRR7410570.472165.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278856.9/ ENSP00000278856.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..385
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     Protein         1..385
                     /product="WD repeat-containing protein 74 isoform 1"
                     /note="WD repeat-containing protein 74; NOP
                     seven-associated protein 1"
                     /calculated_mol_wt=42310
     Region          17..329
                     /region_name="WDR74"
                     /note="WD repeat-containing protein 74; cd22857"
                     /db_xref="CDD:439303"
     Region          18..40
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439303"
     Region          40..80
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          43..79
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439303"
     Region          45..85
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          83..122
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          89..123
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439303"
     Region          91..127
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          128..168
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          131..172
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439303"
     Region          133..171
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Site            order(171,174..176,181,199,221,226..228,265..268)
                     /site_type="other"
                     /note="putative rRNA binding site [nucleotide binding]"
                     /db_xref="CDD:439303"
     Region          179..220
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          185..224
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          187..234
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439303"
     Site            214
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          224..266
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          230..266
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          237..270
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439303"
     Region          267..306
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          273..309
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439303"
     Site            311
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          320..385
                     /region_name="Required for nucleolar and nuclear location.
                     /evidence=ECO:0000269|PubMed:28416111"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          323..345
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          360..385
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Site            361
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q6RFH5.1)"
     CDS             1..385
                     /gene="WDR74"
                     /gene_synonym="Nsa1"
                     /coded_by="NM_001369450.1:21..1178"
                     /note="isoform 1 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS44630.1"
                     /db_xref="GeneID:54663"
                     /db_xref="HGNC:HGNC:25529"
                     /db_xref="MIM:617947"
ORIGIN      
        1 maaaaarwnh vwvgtetgil kgvnlqrkqa anftaggqpr reeavsalcw gtggetqmlv
       61 gcadrtvkhf stedgifqgq rhcpggegmf rglaqadgtl itcvdsgilr vwhdkdkdts
      121 sdpllelrvg pgvcrmrqdp ahphvvatgg kenalkiwdl qgseepvfra knvrndwldl
      181 rvpiwdqdiq flpgsqklvt ctgyhqvrvy dpaspqrrpv lettygeypl tamtltpggn
      241 svivgnthgq laeidlrqgr llgclkglag svrglqchps kpllascgld rvlrihriqn
      301 prglehkvyl ksqlncllls grdnwedepq epqepnkvpl edtetdelwa sleaaakrkl
      361 sgleqpqgal qtrrrkkkrp gstsp
//
LOCUS       NP_001350950             237 aa            linear   PRI 11-MAR-2023
DEFINITION  cyclin-G1 isoform d [Homo sapiens].
ACCESSION   NP_001350950
VERSION     NP_001350950.1
DBSOURCE    REFSEQ: accession NM_001364021.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 237)
  AUTHORS   Chen Y, Liang W, Du J, Ma J, Liang R and Tao M.
  TITLE     PRMT6 functionally associates with PRMT5 to promote colorectal
            cancer progression through epigenetically repressing the expression
            of CDKN2B and CCNG1
  JOURNAL   Exp Cell Res 422 (1), 113413 (2023)
   PUBMED   36400182
  REMARK    GeneRIF: PRMT6 functionally associates with PRMT5 to promote
            colorectal cancer progression through epigenetically repressing the
            expression of CDKN2B and CCNG1.
REFERENCE   2  (residues 1 to 237)
  AUTHORS   Liu Y, Fu X, Wang X, Liu Y and Song X.
  TITLE     Long non-coding RNA OIP5-AS1 facilitates the progression of ovarian
            cancer via the miR-128-3p/CCNG1 axis
  JOURNAL   Mol Med Rep 23 (5) (2021)
   PUBMED   33760168
  REMARK    GeneRIF: Long noncoding RNA OIP5AS1 facilitates the progression of
            ovarian cancer via the miR1283p/CCNG1 axis.
REFERENCE   3  (residues 1 to 237)
  AUTHORS   Xu G, Bu S, Wang X and Ge H.
  TITLE     Silencing the Expression of Cyclin G1 Enhances the Radiosensitivity
            of Hepatocellular Carcinoma In Vitro and In Vivo by Inducing
            Apoptosis
  JOURNAL   Radiat Res 195 (4), 378-384 (2021)
   PUBMED   33543294
  REMARK    GeneRIF: Silencing the Expression of Cyclin G1 Enhances the
            Radiosensitivity of Hepatocellular Carcinoma In Vitro and In Vivo
            by Inducing Apoptosis.
REFERENCE   4  (residues 1 to 237)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 237)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 237)
  AUTHORS   Kanaoka Y, Kimura SH, Okazaki I, Ikeda M and Nojima H.
  TITLE     GAK: a cyclin G associated kinase contains a tensin/auxilin-like
            domain
  JOURNAL   FEBS Lett 402 (1), 73-80 (1997)
   PUBMED   9013862
REFERENCE   7  (residues 1 to 237)
  AUTHORS   Endo Y, Fujita T, Tamura K, Tsuruga H and Nojima H.
  TITLE     Structure and chromosomal assignment of the human cyclin G gene
  JOURNAL   Genomics 38 (1), 92-95 (1996)
   PUBMED   8954786
REFERENCE   8  (residues 1 to 237)
  AUTHORS   Okamoto K, Kamibayashi C, Serrano M, Prives C, Mumby MC and Beach
            D.
  TITLE     p53-dependent association between cyclin G and the B' subunit of
            protein phosphatase 2A
  JOURNAL   Mol Cell Biol 16 (11), 6593-6602 (1996)
   PUBMED   8887688
REFERENCE   9  (residues 1 to 237)
  AUTHORS   Bates S, Rowan S and Vousden KH.
  TITLE     Characterisation of human cyclin G1 and G2: DNA damage inducible
            genes
  JOURNAL   Oncogene 13 (5), 1103-1109 (1996)
   PUBMED   8806701
REFERENCE   10 (residues 1 to 237)
  AUTHORS   Horne MC, Goolsby GL, Donaldson KL, Tran D, Neubauer M and Wahl AF.
  TITLE     Cyclin G1 and cyclin G2 comprise a new family of cyclins with
            contrasting tissue-specific and cell cycle-regulated expression
  JOURNAL   J Biol Chem 271 (11), 6050-6061 (1996)
   PUBMED   8626390
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC112205.2.
            
            Summary: The eukaryotic cell cycle is governed by cyclin-dependent
            protein kinases (CDKs) whose activities are regulated by cyclins
            and CDK inhibitors. The protein encoded by this gene is a member of
            the cyclin family and contains the cyclin box. The encoded protein
            lacks the protein destabilizing (PEST) sequence that is present in
            other family members. Transcriptional activation of this gene can
            be induced by tumor protein p53. Two transcript variants encoding
            the same protein have been identified for this gene. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.80339.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..237
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q34"
     Protein         1..237
                     /product="cyclin-G1 isoform d"
                     /note="cyclin-G"
                     /calculated_mol_wt=27280
     Region          <30..90
                     /region_name="CYCLIN_SF"
                     /note="Cyclin box fold superfamily; cl40454"
                     /db_xref="CDD:454757"
     CDS             1..237
                     /gene="CCNG1"
                     /gene_synonym="CCNG"
                     /coded_by="NM_001364021.1:235..948"
                     /note="isoform d is encoded by transcript variant 7"
                     /db_xref="GeneID:900"
                     /db_xref="HGNC:HGNC:1592"
                     /db_xref="MIM:601578"
ORIGIN      
        1 mievltttds qkllhqlnal leqesrcqpk vqpkhlgcvg lscfylavks ieeernvpla
       61 tdlirisqyr ftvsdlmrme kivlekvcwk vkattafqfl qlyysllqen lplerrnsin
      121 ferleaqlka chcriifska kpsvlalsii aleiqaqkcv eltegieclq khskingrdl
      181 tfwqelvskc lteyssnkcs kpnvqklkwi vsgrtarqlk hsyyrithlp tipemvp
//
LOCUS       NP_003638                567 aa            linear   PRI 12-MAR-2023
DEFINITION  diacylglycerol kinase epsilon [Homo sapiens].
ACCESSION   NP_003638
VERSION     NP_003638.1
DBSOURCE    REFSEQ: accession NM_003647.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 567)
  AUTHORS   Liu D, Ding Q, Dai DF, Padhy B, Nayak MK, Li C, Purvis M, Jin H,
            Shu C, Chauhan AK, Huang CL and Attanasio M.
  TITLE     Loss of diacylglycerol kinase epsilon causes thrombotic
            microangiopathy by impairing endothelial VEGFA signaling
  JOURNAL   JCI Insight 6 (9), 146959 (2021)
   PUBMED   33986189
  REMARK    GeneRIF: Loss of diacylglycerol kinase epsilon causes thrombotic
            microangiopathy by impairing endothelial VEGFA signaling.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 567)
  AUTHORS   Bezdicka M, Pavlicek P, Blahova K, Hacek J and Zieg J.
  TITLE     Various phenotypes of disease associated with mutated DGKE gene
  JOURNAL   Eur J Med Genet 63 (8), 103953 (2020)
   PUBMED   32413569
  REMARK    GeneRIF: Various phenotypes of disease associated with mutated DGKE
            gene.
REFERENCE   3  (residues 1 to 567)
  AUTHORS   Azukaitis K, Simkova E, Majid MA, Galiano M, Benz K, Amann K,
            Bockmeyer C, Gajjar R, Meyers KE, Cheong HI, Lange-Sperandio B,
            Jungraithmayr T, Fremeaux-Bacchi V, Bergmann C, Bereczki C,
            Miklaszewska M, Csuka D, Prohaszka Z, Killen P, Gipson P, Sampson
            MG, Lemaire M and Schaefer F.
  TITLE     The Phenotypic Spectrum of Nephropathies Associated with Mutations
            in Diacylglycerol Kinase epsilon
  JOURNAL   J Am Soc Nephrol 28 (10), 3066-3075 (2017)
   PUBMED   28526779
  REMARK    GeneRIF: mutations can lead to atypical hemolytic uremic syndrome
            or membranoproliferative glomerulonephritis
            Erratum:[J Am Soc Nephrol. 2017 Nov;28(11):3425. PMID: 29089447]
REFERENCE   4  (residues 1 to 567)
  AUTHORS   Miyata T, Uchida Y, Ohta T, Urayama K, Yoshida Y and Fujimura Y.
  TITLE     Atypical haemolytic uraemic syndrome in a Japanese patient with
            DGKE genetic mutations
  JOURNAL   Thromb Haemost 114 (4), 862-863 (2015)
   PUBMED   26018111
  REMARK    GeneRIF: Letter/Case Report: atypical haemolytic uraemic syndrome
            in a Japanese patient with DGKE genetic mutations.
REFERENCE   5  (residues 1 to 567)
  AUTHORS   Epand RM, Kam A, Bridgelal N, Saiga A and Topham MK.
  TITLE     The alpha isoform of diacylglycerol kinase exhibits arachidonoyl
            specificity with alkylacylglycerol
  JOURNAL   Biochemistry 43 (46), 14778-14783 (2004)
   PUBMED   15544348
REFERENCE   6  (residues 1 to 567)
  AUTHORS   Tang W, Bardien S, Bhattacharya SS and Prescott SM.
  TITLE     Characterization of the human diacylglycerol kinase epsilon gene
            and its assessment as a candidate for inherited retinitis
            pigmentosa
  JOURNAL   Gene 239 (1), 185-192 (1999)
   PUBMED   10571048
REFERENCE   7  (residues 1 to 567)
  AUTHORS   Hart TC, Price JA, Bobby PL, Pettenati MJ, Shashi V, Von Kap Herr C
            and Van Dyke TE.
  TITLE     Cytogenetic assignment and physical mapping of the human DGKE gene
            to chromosome 17q22
  JOURNAL   Genomics 56 (2), 233-235 (1999)
   PUBMED   10051413
REFERENCE   8  (residues 1 to 567)
  AUTHORS   Tang W, Bunting M, Zimmerman GA, McIntyre TM and Prescott SM.
  TITLE     Molecular cloning of a novel human diacylglycerol kinase highly
            selective for arachidonate-containing substrates
  JOURNAL   J Biol Chem 271 (17), 10237-10241 (1996)
   PUBMED   8626589
REFERENCE   9  (residues 1 to 567)
  AUTHORS   Martin,B. and Smith,R.J.H.
  TITLE     C3 Glomerulopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301598
REFERENCE   10 (residues 1 to 567)
  AUTHORS   Noris,M., Bresin,E., Mele,C. and Remuzzi,G.
  TITLE     Genetic Atypical Hemolytic-Uremic Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301541
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL555194.3, DB221284.1,
            BC130629.1, AC015912.16 and BM682264.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: Diacylglycerol kinases are thought to be involved mainly
            in the regeneration of phosphatidylinositol (PI) from
            diacylglycerol in the PI-cycle during cell signal transduction.
            When expressed in mammalian cells, DGK-epsilon shows specificity
            for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed
            predominantly in testis. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.135353.1,
                                           SRR1803616.12376.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000284061.8/ ENSP00000284061.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..567
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q22"
     Protein         1..567
                     /product="diacylglycerol kinase epsilon"
                     /EC_number="2.7.1.107"
                     /note="DGK-epsilon; DAG kinase epsilon; diglyceride kinase
                     epsilon; diacylglycerol kinase, epsilon 64kDa"
                     /calculated_mol_wt=63796
     Site            22..42
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P52429.1)"
     Region          57..110
                     /region_name="C1_DGKepsilon_typeIII_rpt1"
                     /note="first protein kinase C conserved region 1 (C1
                     domain) found in type III diacylglycerol kinase, DAG
                     kinase epsilon, and similar proteins; cd20801"
                     /db_xref="CDD:410351"
     Site            order(60,74,77,87,90,95,98,108)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:410351"
     Region          125..189
                     /region_name="C1_DGKepsilon_typeIII_rpt2"
                     /note="second protein kinase C conserved region 1 (C1
                     domain) found in type III diacylglycerol kinase, DAG
                     kinase epsilon, and similar proteins; cd20853"
                     /db_xref="CDD:410403"
     Region          221..349
                     /region_name="DAGKc"
                     /note="Diacylglycerol kinase catalytic domain (presumed);
                     smart00046"
                     /db_xref="CDD:214487"
     Region          369..524
                     /region_name="DAGKa"
                     /note="Diacylglycerol kinase accessory domain (presumed);
                     smart00045"
                     /db_xref="CDD:214486"
     CDS             1..567
                     /gene="DGKE"
                     /gene_synonym="AHUS7; DAGK5; DAGK6; DGK; NPHS7"
                     /coded_by="NM_003647.3:129..1832"
                     /db_xref="CCDS:CCDS11590.1"
                     /db_xref="GeneID:8526"
                     /db_xref="HGNC:HGNC:2852"
                     /db_xref="MIM:601440"
ORIGIN      
        1 meaerrpapg spseglfadg hlilwtlcsv llpvfitfwc slqrsrrqlh rrdifrkskh
       61 gwrdtdlfsq ptyccvcaqh ilqgafcdcc glrvdegclr kadkrfqcke imlkndtkvl
      121 damphhwirg nvplcsycmv ckqqcgcqpk lcdyrciwcq ktvhdecmkn slknekcdfg
      181 efknliipps yltsinqmrk dkktdyevla sklgkqwtpl iilansrsgt nmgegllgef
      241 rillnpvqvf dvtktppika lqlctllpyy sarvlvcggd gtvgwvldav ddmkikgqek
      301 yipqvavlpl gtgndlsntl gwgtgyagei pvaqvlrnvm eadgikldrw kvqvtnkgyy
      361 nlrkpkeftm nnyfsvgpda lmalnfhahr ekapslfssr ilnkavylfy gtkdclvqec
      421 kdlnkkvele ldgervalps legiivlnig ywgggcrlwe gmgdetypla rhddgllevv
      481 gvygsfhcaq iqvklanpfr igqahtvrli lkcsmmpmqv dgepwaqgpc tvtithktha
      541 mmlyfsgeqt dddisstsdq edikate
//
LOCUS       NP_005325               2035 aa            linear   PRI 12-MAR-2023
DEFINITION  host cell factor 1 isoform 2 [Homo sapiens].
ACCESSION   NP_005325
VERSION     NP_005325.2
DBSOURCE    REFSEQ: accession NM_005334.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2035)
  AUTHORS   Wongkittichote P, Wegner DJ and Shinawi MS.
  TITLE     Novel exon-skipping variant disrupting the basic domain of HCFC1
            causes intellectual disability without metabolic abnormalities in
            both male and female patients
  JOURNAL   J Hum Genet 66 (7), 717-724 (2021)
   PUBMED   33517344
  REMARK    GeneRIF: Novel exon-skipping variant disrupting the basic domain of
            HCFC1 causes intellectual disability without metabolic
            abnormalities in both male and female patients.
REFERENCE   2  (residues 1 to 2035)
  AUTHORS   Lee KH, Kim BC, Jeong CW, Ku JH, Kim HH and Kwak C.
  TITLE     MLL5, a histone modifying enzyme, regulates androgen receptor
            activity in prostate cancer cells by recruiting co-regulators, HCF1
            and SET1
  JOURNAL   BMB Rep 53 (12), 634-639 (2020)
   PUBMED   33050986
  REMARK    GeneRIF: MLL5, a histone modifying enzyme, regulates androgen
            receptor activity in prostate cancer cells by recruiting
            co-regulators, HCF1 and SET1.
REFERENCE   3  (residues 1 to 2035)
  AUTHORS   Xiang P, Li F, Ma Z, Yue J, Lu C, You Y, Hou L, Yin B, Qiang B, Shu
            P and Peng X.
  TITLE     HCF-1 promotes cell cycle progression by regulating the expression
            of CDC42
  JOURNAL   Cell Death Dis 11 (10), 907 (2020)
   PUBMED   33097698
  REMARK    GeneRIF: HCF-1 promotes cell cycle progression by regulating the
            expression of CDC42.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 2035)
  AUTHORS   Wu J, Xue Y, Gao X and Zhou Q.
  TITLE     Host cell factors stimulate HIV-1 transcription by antagonizing
            substrate-binding function of Siah1 ubiquitin ligase to stabilize
            transcription elongation factor ELL2
  JOURNAL   Nucleic Acids Res 48 (13), 7321-7332 (2020)
   PUBMED   32479599
  REMARK    GeneRIF: Host cell factors stimulate HIV-1 transcription by
            antagonizing substrate-binding function of Siah1 ubiquitin ligase
            to stabilize transcription elongation factor ELL2.
REFERENCE   5  (residues 1 to 2035)
  AUTHORS   Park SH, Ayoub A, Lee YT, Xu J, Kim H, Zheng W, Zhang B, Sha L, An
            S, Zhang Y, Cianfrocco MA, Su M, Dou Y and Cho US.
  TITLE     Cryo-EM structure of the human MLL1 core complex bound to the
            nucleosome
  JOURNAL   Nat Commun 10 (1), 5540 (2019)
   PUBMED   31804488
  REMARK    Erratum:[Nat Commun. 2020 Feb 27;11(1):1165. PMID: 32109228]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 2035)
  AUTHORS   Wilson AC, Peterson MG and Herr W.
  TITLE     The HCF repeat is an unusual proteolytic cleavage signal
  JOURNAL   Genes Dev 9 (20), 2445-2458 (1995)
   PUBMED   7590226
REFERENCE   7  (residues 1 to 2035)
  AUTHORS   Frattini A, Faranda S, Redolfi E, Zucchi I, Villa A, Patrosso MC,
            Strina D, Susani L and Vezzoni P.
  TITLE     Genomic organization of the human VP16 accessory protein, a
            housekeeping gene (HCFC1) mapping to Xq28
  JOURNAL   Genomics 23 (1), 30-35 (1994)
   PUBMED   7829097
REFERENCE   8  (residues 1 to 2035)
  AUTHORS   Sloan,J.L., Carrillo,N., Adams,D. and Venditti,C.P.
  TITLE     Disorders of Intracellular Cobalamin Metabolism
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301503
REFERENCE   9  (residues 1 to 2035)
  AUTHORS   Mulley JC, Kerr B, Stevenson R and Lubs H.
  TITLE     Nomenclature guidelines for X-linked mental retardation
  JOURNAL   Am J Med Genet 43 (1-2), 383-391 (1992)
   PUBMED   1605216
  REMARK    Review article
REFERENCE   10 (residues 1 to 2035)
  AUTHORS   Gedeon A, Kerr B, Mulley J and Turner G.
  TITLE     Localisation of the MRX3 gene for non-specific X linked mental
            retardation
  JOURNAL   J Med Genet 28 (6), 372-377 (1991)
   PUBMED   1870093
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U52112.2, BC063435.1, L20010.1
            and BC010606.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 19, 2006 this sequence version replaced NP_005325.1.
            
            Summary: This gene is a member of the host cell factor family and
            encodes a protein with five Kelch repeats, a fibronectin-like
            motif, and six HCF repeats, each of which contains a highly
            specific cleavage signal. This nuclear coactivator is
            proteolytically cleaved at one of the six possible sites, resulting
            in the creation of an N-terminal chain and the corresponding
            C-terminal chain. The final form of this protein consists of
            noncovalently bound N- and C-terminal chains. The protein is
            involved in control of the cell cycle and transcriptional
            regulation during herpes simplex virus infection. Alternatively
            spliced variants which encode different protein isoforms have been
            described; however, not all variants have been fully characterized.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: L20010.1, SRR11853560.30529.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310441.12/ ENSP00000309555.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2035
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..2035
                     /product="host cell factor 1 isoform 2"
                     /note="host cell factor 1; VP16-accessory protein; protein
                     phosphatase 1, regulatory subunit 89"
                     /calculated_mol_wt=208602
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Site            6
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Region          <27..322
                     /region_name="PLN02193"
                     /note="nitrile-specifier protein"
                     /db_xref="CDD:177844"
     Region          33..80
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          44..89
                     /region_name="Kelch 1. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Region          84..134
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          93..140
                     /region_name="Kelch 2. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Region          137..196
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          148..194
                     /region_name="Kelch 3. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Region          200..253
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          217..265
                     /region_name="Kelch 4. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Region          255..319
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          266..313
                     /region_name="Kelch 5. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Site            288
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Region          319..>351
                     /region_name="Kelch_5"
                     /note="Kelch motif; pfam13854"
                     /db_xref="CDD:433528"
     Region          322..367
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          407..434
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Site            411
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Region          <466..771
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          500..550
                     /region_name="Required for interaction with OGT.
                     /evidence=ECO:0000269|PubMed:21285374"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Site            504
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Site            524
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Site            598
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Region          610..722
                     /region_name="Interaction with SIN3A.
                     /evidence=ECO:0000269|PubMed:12670868"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Site            666
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17924679, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Site            669
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Region          750..902
                     /region_name="Interaction with ZBTB17.
                     /evidence=ECO:0000269|PubMed:12244100"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Region          813..912
                     /region_name="Interaction with GABP2.
                     /evidence=ECO:0000269|PubMed:10675337"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Site            813
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Region          1010..1035
                     /region_name="HCF repeat 1.
                     /evidence=ECO:0000305|PubMed:7590226"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Site            1019..1020
                     /site_type="cleavage"
                     /note="Cleavage, by autolysis.
                     /evidence=ECO:0000269|PubMed:7590226; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Region          1072..1097
                     /region_name="HCF repeat 2.
                     /evidence=ECO:0000305|PubMed:7590226"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Site            1081..1082
                     /site_type="cleavage"
                     /note="Cleavage, by autolysis.
                     /evidence=ECO:0000269|PubMed:7590226; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Region          1101..1126
                     /region_name="HCF repeat 3.
                     /evidence=ECO:0000305|PubMed:7590226"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Site            1110..1111
                     /site_type="cleavage"
                     /note="Cleavage, by autolysis.
                     /evidence=ECO:0000305|PubMed:7590226; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Region          1158..1183
                     /region_name="HCF repeat 4, degenerate.
                     /evidence=ECO:0000305|PubMed:7590226"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Site            1205
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Site            1219
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Site            1224
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Region          1286..1311
                     /region_name="HCF repeat 5.
                     /evidence=ECO:0000305|PubMed:7590226"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Region          1292..1371
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Site            1295..1296
                     /site_type="cleavage"
                     /note="Cleavage, by autolysis.
                     /evidence=ECO:0000305|PubMed:7590226; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Site            1323..1324
                     /site_type="cleavage"
                     /note="Cleavage, by autolysis.
                     /evidence=ECO:0000269|PubMed:10920196,
                     ECO:0000305|PubMed:7590226; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Region          1349..1374
                     /region_name="HCF repeat 7, degenerate.
                     /evidence=ECO:0000305|PubMed:7590226"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Region          1414..1439
                     /region_name="HCF repeat 8.
                     /evidence=ECO:0000305|PubMed:7590226"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Site            1423..1424
                     /site_type="cleavage"
                     /note="Cleavage, by autolysis.
                     /evidence=ECO:0000269|PubMed:10920196,
                     ECO:0000305|PubMed:7590226; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Region          1435..1470
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Region          1487..1515
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Site            1491
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Site            1497
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Site            1507
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Site            1771
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Site            1838
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61191; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     Region          <1856..1885
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(1874..1875,1877..1878)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1891..1996
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(1891,1969,1990)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(1991..1992,1994..1995)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1994..2035
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P51610.2)"
     Site            2005
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P51610.2)"
     CDS             1..2035
                     /gene="HCFC1"
                     /gene_synonym="CFF; HCF; HCF-1; HCF1; HFC1; MAHCX; MRX3;
                     PPP1R89; VCAF; XLID3"
                     /coded_by="NM_005334.3:979..7086"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS44020.1"
                     /db_xref="GeneID:3054"
                     /db_xref="HGNC:HGNC:4839"
                     /db_xref="MIM:300019"
ORIGIN      
        1 masavspanl pavllqprwk rvvgwsgpvp rprhghrava ikelivvfgg gnegivdelh
       61 vyntatnqwf ipavrgdipp gcaaygfvcd gtrllvfggm veygkysndl yelqasrwew
      121 krlkaktpkn gpppcprlgh sfslvgnkcy lfgglandse dpknnipryl ndlyilelrp
      181 gsgvvawdip itygvlpppr eshtavvyte kdnkksklvi yggmsgcrlg dlwtldidtl
      241 twnkpslsgv aplprslhsa ttignkmyvf ggwvplvmdd vkvathekew kctntlacln
      301 ldtmawetil mdtlednipr araghcavai ntrlyiwsgr dgyrkawnnq vcckdlwyle
      361 tekpppparv qlvrantnsl evswgavata dsyllqlqky dipataatat sptpnpvpsv
      421 panppkspap aaaapavqpl tqvgitllpq aapapptttt iqvlptvpgs sisvptaart
      481 qgvpavlkvt gpqattgtpl vtmrpasqag kapvtvtslp agvrmvvptq saqgtvigss
      541 pqmsgmaala aaaaatqkip pssaptvlsv pagttivktm avtpgtttlp atvkvasspv
      601 mvsnpatrml ktaaaqvgts vssatntstr piitvhksgt vtvaqqaqvv ttvvggvtkt
      661 itlvkspisv pggsalisnl gkvmsvvqtk pvqtsavtgq astgpvtqii qtkgplpagt
      721 ilklvtsadg kpttiitttq asgagtkpti lgissvspst tkpgtttiik tipmsaiitq
      781 agatgvtssp gikspitiit tkvmtsgtga pakiitavpk iatghgqqgv tqvvlkgapg
      841 qpgtilrtvp mggvrlvtpv tvsavkpavt tlvvkgttgv ttlgtvtgtv stslagaggh
      901 stsaslatpi ttlgtiatls sqvinptait vsaaqttlta agglttptit mqpvsqptqv
      961 tlitapsgve aqpvhdlpvs ilasptteqp tatvtiadsg qgdvqpgtvt lvcsnppcet
     1021 hetgttntat ttvvanlggh pqptqvqfvc drqeaaaslv tstvgqqngs vvrvcsnppc
     1081 ethetgttnt attatsnmag qhgcsnppce thetgttnta ttamssvgan hqrdarraca
     1141 agtpaviris vatgaleaaq gsksqcqtrq tsatsttmtv matgapcsag pllgpsmare
     1201 pggrspafvq laplsskvrl sspsikdlpa grhshavsta amtrssvgag eprmapvces
     1261 lqggspsttv tvtaleallc psatvtqvcs nppcethetg ttntattsna gsaqrvcsnp
     1321 pcethetgtt htattatsng gtgqpeggqq ppagrpceth qttstgttms vsvgallpda
     1381 tsshrtvesg levaaapsvt pqagtallap fptqrvcsnp pcethetgtt htattvtsnm
     1441 ssnqdpppaa sdqgevestq gdsvnitsss aitttvsstl travttvtqs tpvpgpsvpp
     1501 peelqvspgp rqqlpprqll qsastalmge saevlsasqt pelpaavdls stgepssgqe
     1561 sagsavvatv vvqpppptqs evdqlslpqe lmaeaqagtt tlmvtgltpe elavtaaaea
     1621 aaqaaateea qalaiqavlq aaqqavmgtg epmdtseaaa tvtqaelghl saegqegqat
     1681 tipivltqqe laalvqqqql qeaqaqqqhh hlptealapa dslndpaies nclnelagtv
     1741 pstvallpst ateslapsnt fvapqpvvva spaklqaaat ltevangies lgvkpdlppp
     1801 pskapmkken qwfdvgvikg tnvmvthyfl ppddavpsdd dlgtvpdynq lkkqelqpgt
     1861 aykfrvagin acgrgpfsei safktclpgf pgapcaikis kspdgahltw eppsvtsgki
     1921 ieysvylaiq ssqaggelks stpaqlafmr vycgpspscl vqssslsnah idyttkpaii
     1981 friaarnekg ygpatqvrwl qetskdssgt kpankrpmss pemksapkks kadgq
//
LOCUS       NP_006746                337 aa            linear   PRI 12-MAR-2023
DEFINITION  transaldolase [Homo sapiens].
ACCESSION   NP_006746 XP_943790
VERSION     NP_006746.1
DBSOURCE    REFSEQ: accession NM_006755.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 337)
  AUTHORS   Grammatikopoulos T, Hadzic N, Foskett P, Strautnieks S, Samyn M,
            Vara R, Dhawan A, Hertecant J, Al Jasmi F, Rahman O, Deheragoda M,
            Bull LN and Thompson RJ.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     Liver Disease and Risk of Hepatocellular Carcinoma in Children With
            Mutations in TALDO1
  JOURNAL   Hepatol Commun 6 (3), 473-479 (2022)
   PUBMED   34677006
  REMARK    GeneRIF: Liver Disease and Risk of Hepatocellular Carcinoma in
            Children With Mutations in TALDO1.
REFERENCE   2  (residues 1 to 337)
  AUTHORS   Alfarsi LH, El Ansari R, Craze ML, Mohammed OJ, Masisi BK, Ellis
            IO, Rakha EA and Green AR.
  TITLE     SLC1A5 co-expression with TALDO1 associates with endocrine therapy
            failure in estrogen receptor-positive breast cancer
  JOURNAL   Breast Cancer Res Treat 189 (2), 317-331 (2021)
   PUBMED   34282517
  REMARK    GeneRIF: SLC1A5 co-expression with TALDO1 associates with endocrine
            therapy failure in estrogen receptor-positive breast cancer.
REFERENCE   3  (residues 1 to 337)
  AUTHORS   Shayota BJ, Donti TR, Xiao J, Gijavanekar C, Kennedy AD, Hubert L,
            Rodan L, Vanderpluym C, Nowak C, Bjornsson HT, Ganetzky R, Berry
            GT, Pappan KL, Sutton VR, Sun Q and Elsea SH.
  TITLE     Untargeted metabolomics as an unbiased approach to the diagnosis of
            inborn errors of metabolism of the non-oxidative branch of the
            pentose phosphate pathway
  JOURNAL   Mol Genet Metab 131 (1-2), 147-154 (2020)
   PUBMED   32828637
  REMARK    GeneRIF: Untargeted metabolomics as an unbiased approach to the
            diagnosis of inborn errors of metabolism of the non-oxidative
            branch of the pentose phosphate pathway.
REFERENCE   4  (residues 1 to 337)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 337)
  AUTHORS   Ding Y, Gong C, Huang D, Chen R, Sui P, Lin KH, Liang G, Yuan L,
            Xiang H, Chen J, Yin T, Alexander PB, Wang QF, Song EW, Li QJ, Wood
            KC and Wang XF.
  TITLE     Synthetic lethality between HER2 and transaldolase in intrinsically
            resistant HER2-positive breast cancers
  JOURNAL   Nat Commun 9 (1), 4274 (2018)
   PUBMED   30323337
  REMARK    GeneRIF: these results pinpoint transaldolase as a novel metabolic
            enzyme possessing synthetic lethality with HER2 inhibition.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 337)
  AUTHORS   Kusuda J, Hirai M, Toyoda A, Tanuma R, Nomura-Kitabayashi A and
            Hashimoto K.
  TITLE     Cloning and chromosomal localization of a paralog and a mouse
            homolog of the human transaldolase gene
  JOURNAL   Gene 209 (1-2), 13-21 (1998)
   PUBMED   9524206
REFERENCE   7  (residues 1 to 337)
  AUTHORS   Banki K, Eddy RL, Shows TB, Halladay DL, Bullrich F, Croce CM,
            Jurecic V, Baldini A and Perl A.
  TITLE     The human transaldolase gene (TALDO1) is located on chromosome 11
            at p15.4-p15.5
  JOURNAL   Genomics 45 (1), 233-238 (1997)
   PUBMED   9339383
REFERENCE   8  (residues 1 to 337)
  AUTHORS   Kusuda J, Hirai M, Toyoda A and Hashimoto K.
  TITLE     Localization of the human transaldolase gene (TALDO) to chromosome
            1p33-p34.1 by fluorescence in situ hybridization and PCR analysis
            of somatic cell hybirds
  JOURNAL   Genomics 40 (2), 378-381 (1997)
   PUBMED   9119412
REFERENCE   9  (residues 1 to 337)
  AUTHORS   Banki K, Colombo E, Sia F, Halladay D, Mattson DH, Tatum AH, Massa
            PT, Phillips PE and Perl A.
  TITLE     Oligodendrocyte-specific expression and autoantigenicity of
            transaldolase in multiple sclerosis
  JOURNAL   J Exp Med 180 (5), 1649-1663 (1994)
   PUBMED   7964452
REFERENCE   10 (residues 1 to 337)
  AUTHORS   Banki K, Halladay D and Perl A.
  TITLE     Cloning and expression of the human gene for transaldolase. A novel
            highly repetitive element constitutes an integral part of the
            coding sequence
  JOURNAL   J Biol Chem 269 (4), 2847-2851 (1994)
   PUBMED   8300619
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L19437.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 4, 2006 this sequence version replaced XP_943790.1.
            
            Summary: Transaldolase 1 is a key enzyme of the nonoxidative
            pentose phosphate pathway providing ribose-5-phosphate for nucleic
            acid synthesis and NADPH for lipid biosynthesis. This pathway can
            also maintain glutathione at a reduced state and thus protect
            sulfhydryl groups and cellular integrity from oxygen radicals. The
            functional gene of transaldolase 1 is located on chromosome 11 and
            a pseudogene is identified on chromosome 1 but there are
            conflicting map locations. The second and third exon of this gene
            were developed by insertion of a retrotransposable element. This
            gene is thought to be involved in multiple sclerosis. [provided by
            RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.691487.1,
                                           SRR1163658.234642.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000319006.8/ ENSP00000321259.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..337
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     Protein         1..337
                     /product="transaldolase"
                     /EC_number="2.2.1.2"
                     /note="glycerone transferase; dihydroxyacetone
                     transferase; testicular secretory protein Li 56"
                     /calculated_mol_wt=37409
     Region          1..10
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000250|UniProtKB:Q93092"
                     /note="propagated from UniProtKB/Swiss-Prot (P37837.2)"
     Region          11..329
                     /region_name="PRK05269"
                     /note="transaldolase B; Provisional"
                     /db_xref="CDD:235381"
     Site            order(27,43,45..46,104,106,142,165,167,187,192)
                     /site_type="active"
                     /db_xref="CDD:188644"
     Site            order(114,292,295,299..300,306,309,313)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:188644"
     Site            115
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q93092; propagated from
                     UniProtKB/Swiss-Prot (P37837.2)"
     Site            142
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:188644"
     Site            219
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P37837.2)"
     Site            237
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P37837.2)"
     Site            256
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P37837.2)"
     Site            269
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P37837.2)"
     Site            286
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P37837.2)"
     Site            321
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P37837.2)"
     CDS             1..337
                     /gene="TALDO1"
                     /gene_synonym="TAL; TAL-H; TALDOR; TALH"
                     /coded_by="NM_006755.2:19..1032"
                     /db_xref="CCDS:CCDS7712.1"
                     /db_xref="GeneID:6888"
                     /db_xref="HGNC:HGNC:11559"
                     /db_xref="MIM:602063"
ORIGIN      
        1 mssspvkrqr mesaldqlkq fttvvadtgd fhaideykpq dattnpslil aaaqmpayqe
       61 lveeaiaygr klggsqedqi knaidklfvl fgaeilkkip grvstevdar lsfdkdamva
      121 rarrlielyk eagiskdril iklsstwegi qagkeleeqh gihcnmtllf sfaqavacae
      181 agvtlispfv grildwhvan tdkksyeple dpgvksvtki ynyykkfsyk tivmgasfrn
      241 tgeikalagc dfltispkll gellqdnakl vpvlsakaaq asdlekihld eksfrwlhne
      301 dqmaveklsd girkfaadav klermlterm fnaengk
//
LOCUS       NP_001337864             630 aa            linear   PRI 15-MAR-2023
DEFINITION  zinc finger CCHC domain-containing protein 8 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001337864
VERSION     NP_001337864.1
DBSOURCE    REFSEQ: accession NM_001350935.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 630)
  AUTHORS   Gable DL, Gaysinskaya V, Atik CC, Talbot CC Jr, Kang B, Stanley SE,
            Pugh EW, Amat-Codina N, Schenk KM, Arcasoy MO, Brayton C, Florea L
            and Armanios M.
  TITLE     ZCCHC8, the nuclear exosome targeting component, is mutated in
            familial pulmonary fibrosis and is required for telomerase RNA
            maturation
  JOURNAL   Genes Dev 33 (19-20), 1381-1396 (2019)
   PUBMED   31488579
  REMARK    GeneRIF: ZCCHC8 associated with telomerase RNA and was required for
            telomerase function
REFERENCE   2  (residues 1 to 630)
  AUTHORS   Lingaraju M, Johnsen D, Schlundt A, Langer LM, Basquin J, Sattler
            M, Heick Jensen T, Falk S and Conti E.
  TITLE     The MTR4 helicase recruits nuclear adaptors of the human RNA
            exosome using distinct arch-interacting motifs
  JOURNAL   Nat Commun 10 (1), 3393 (2019)
   PUBMED   31358741
  REMARK    GeneRIF: Data show that the nuclear exosome adaptors nuclear
            valosin-containing protein-like (NVL) and zinc finger, CCHC domain
            containing 8 protein (ZCCHC8) bind the Mtr4 exosome RNA helicase
            (MTR4) KOW domain on a surface.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 630)
  AUTHORS   Puno MR and Lima CD.
  TITLE     Structural basis for MTR4-ZCCHC8 interactions that stimulate the
            MTR4 helicase in the nuclear exosome-targeting complex
  JOURNAL   Proc Natl Acad Sci U S A 115 (24), E5506-E5515 (2018)
   PUBMED   29844170
REFERENCE   4  (residues 1 to 630)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 630)
  AUTHORS   Kilchert C, Wittmann S and Vasiljeva L.
  TITLE     The regulation and functions of the nuclear RNA exosome complex
  JOURNAL   Nat Rev Mol Cell Biol 17 (4), 227-239 (2016)
   PUBMED   26726035
  REMARK    Review article
REFERENCE   6  (residues 1 to 630)
  AUTHORS   Tiedje C, Lubas M, Tehrani M, Menon MB, Ronkina N, Rousseau S,
            Cohen P, Kotlyarov A and Gaestel M.
  TITLE     p38MAPK/MK2-mediated phosphorylation of RBM7 regulates the human
            nuclear exosome targeting complex
  JOURNAL   RNA 21 (2), 262-278 (2015)
   PUBMED   25525152
REFERENCE   7  (residues 1 to 630)
  AUTHORS   Lubas M, Andersen PR, Schein A, Dziembowski A, Kudla G and Jensen
            TH.
  TITLE     The human nuclear exosome targeting complex is loaded onto newly
            synthesized RNA to direct early ribonucleolysis
  JOURNAL   Cell Rep 10 (2), 178-192 (2015)
   PUBMED   25578728
REFERENCE   8  (residues 1 to 630)
  AUTHORS   Lubas M, Christensen MS, Kristiansen MS, Domanski M, Falkenby LG,
            Lykke-Andersen S, Andersen JS, Dziembowski A and Jensen TH.
  TITLE     Interaction profiling identifies the human nuclear exosome
            targeting complex
  JOURNAL   Mol Cell 43 (4), 624-637 (2011)
   PUBMED   21855801
REFERENCE   9  (residues 1 to 630)
  AUTHORS   Gustafson MP, Welcker M, Hwang HC and Clurman BE.
  TITLE     Zcchc8 is a glycogen synthase kinase-3 substrate that interacts
            with RNA-binding proteins
  JOURNAL   Biochem Biophys Res Commun 338 (3), 1359-1367 (2005)
   PUBMED   16263084
  REMARK    GeneRIF: Zcchc8 is a glycogen synthase kinase-3 substrate with a
            role in RNA metabolism
REFERENCE   10 (residues 1 to 630)
  AUTHORS   Savage,S.A. and Niewisch,M.R.
  TITLE     Dyskeratosis Congenita and Related Telomere Biology Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301779
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC127002.3.
            
            Summary: This gene encodes a scaffold protein which serves as an
            assessory factor to the nuclear RNA exosome complex. The encoded
            protein forms a trimeric human nuclear exosome targeting (NEXT)
            complex, together with hMTR4 and the RNA-binding factor RBM7 which
            promotes the exosomal degradation of non-coding promoter-upstream
            transcripts, enhancer RNAs and 3'-extended products of histone- and
            small nuclear RNA transcription. This complex is also thought to
            recruit the exosome to degrade intronic RNAs via its interaction
            with both the exosome and the spliceosome. It contains both an
            N-terminal zinc-knuckle domain and a C-terminal proline-rich
            domain. [provided by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (2) lacks three alternate exons in
            the 5' coding region, compared to variant (1). The encoded isoform
            (2) is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..630
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     Protein         1..630
                     /product="zinc finger CCHC domain-containing protein 8
                     isoform 2"
                     /note="TRAMP-like complex RNA-binding factor ZCCHC8; zinc
                     finger, CCHC domain containing 8"
                     /calculated_mol_wt=69635
     Region          206..258
                     /region_name="PSP"
                     /note="proline-rich domain in spliceosome associated
                     proteins; smart00581"
                     /db_xref="CDD:128850"
     CDS             1..630
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /coded_by="NM_001350935.2:93..1985"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:55596"
                     /db_xref="HGNC:HGNC:25265"
                     /db_xref="MIM:616381"
ORIGIN      
        1 maaevyfgdl elfepfdhpe esipkpvhtr fkdddgdeed engvgdaelr erlrqceeti
       61 eqlraenqel krklniltrp sgilvndtkl dgpilqilfm nnaiskqyhq eieefvsnlv
      121 krfeeqqknd vektsfnllp qpssivleed hkveescaik nnkeafsprn aarisekrke
      181 ymdacgeann qnfqqryhae eveerfgrfk pgviseelqd algvtdkslp pfiyrmrqlg
      241 yppgwlkeae lensglalyd gkdgtdgete vgeiqqnksv tydlsklvny pgfnistprg
      301 ipdewrifgs ipmqacqqkd vfanyltsnf qapgvksgnk rssshsspgs pkkqknesns
      361 agspadmeld sdmevphgsq ssesfqfqpp lppdtpplpr gtpppvftpp lpkgtppltp
      421 sdspqtrtas gavdedaltl eeleeqqrri waaleqaesv nsdsdvpvdt pltgnsvass
      481 pcpneldlpv pegktsekqt ldepevpeif tkkseaghas spdsevtslc qkekaelapv
      541 ntegalldng svvpncdisn ggsqklfpad tspstatkih spipdmskfa tgitpfefen
      601 maestgmylr irsllknspr nqqknkkase
//
LOCUS       NP_001108107             418 aa            linear   PRI 15-MAR-2023
DEFINITION  zinc finger protein PLAG1 isoform b [Homo sapiens].
ACCESSION   NP_001108107
VERSION     NP_001108107.1
DBSOURCE    REFSEQ: accession NM_001114635.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 418)
  AUTHORS   Keyvani Chahi A, Belew MS, Xu J, Chen HTT, Rentas S, Voisin V,
            Krivdova G, Lechman E, Marhon SA, De Carvalho DD, Dick JE, Bader GD
            and Hope KJ.
  TITLE     PLAG1 dampens protein synthesis to promote human hematopoietic stem
            cell self-renewal
  JOURNAL   Blood 140 (9), 992-1008 (2022)
   PUBMED   35639948
  REMARK    GeneRIF: PLAG1 dampens protein synthesis to promote human
            hematopoietic stem cell self-renewal.
REFERENCE   2  (residues 1 to 418)
  AUTHORS   Murase T, Ishibashi K, Okumura Y, Ueda K, Nakano S, Fujii K, Masaki
            A, Nagao T and Inagaki H.
  TITLE     Pleomorphic adenoma: detection of PLAG1 rearrangement-positive
            tumor components using whole-slide fluorescence in situ
            hybridization
  JOURNAL   Hum Pathol 120, 26-34 (2022)
   PUBMED   34906590
  REMARK    GeneRIF: Pleomorphic adenoma: detection of PLAG1
            rearrangement-positive tumor components using whole-slide
            fluorescence in situ hybridization.
REFERENCE   3  (residues 1 to 418)
  AUTHORS   Czogala W, Strojny W, Schab M, Grabowska A, Miklusiak K, Kowalczyk
            W, Lazarczyk A, Tomasik P and Skoczen S.
  TITLE     FTO and PLAG1 Genes Expression and FTO Methylation Predict Changes
            in Circulating Levels of Adipokines and Gastrointestinal Peptides
            in Children
  JOURNAL   Nutrients 13 (10), 3585 (2021)
   PUBMED   34684585
  REMARK    GeneRIF: FTO and PLAG1 Genes Expression and FTO Methylation Predict
            Changes in Circulating Levels of Adipokines and Gastrointestinal
            Peptides in Children.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 418)
  AUTHORS   Gerhard-Hartmann E, Vokuhl C, Roth S, Steinmuller T, Rosenfeldt M,
            Zamo A, Rosenwald A, Appenzeller S, Ernestus K and Maurus K.
  TITLE     The histological and molecular spectrum of lipoblastoma: A case
            series with identification of three novel gene fusions by targeted
            RNA-sequencing
  JOURNAL   Pathol Res Pract 226, 153591 (2021)
   PUBMED   34455363
  REMARK    GeneRIF: The histological and molecular spectrum of lipoblastoma: A
            case series with identification of three novel gene fusions by
            targeted RNA-sequencing.
REFERENCE   5  (residues 1 to 418)
  AUTHORS   Valstar MH, Mast H, Ten Hove I, Moonen LR, Balm AJ, Smeele LE,
            Koljenovic S, Dinjens WN and van Velthuysen MF.
  TITLE     Malignant transformation of salivary gland pleomorphic adenoma:
            proof of principle
  JOURNAL   J Pathol Clin Res 7 (5), 432-437 (2021)
   PUBMED   34390320
  REMARK    GeneRIF: Malignant transformation of salivary gland pleomorphic
            adenoma: proof of principle.
REFERENCE   6  (residues 1 to 418)
  AUTHORS   Kas K, Voz ML, Hensen K, Meyen E and Van de Ven WJ.
  TITLE     Transcriptional activation capacity of the novel PLAG family of
            zinc finger proteins
  JOURNAL   J Biol Chem 273 (36), 23026-23032 (1998)
   PUBMED   9722527
REFERENCE   7  (residues 1 to 418)
  AUTHORS   Voz ML, Astrom AK, Kas K, Mark J, Stenman G and Van de Ven WJ.
  TITLE     The recurrent translocation t(5;8)(p13;q12) in pleomorphic adenomas
            results in upregulation of PLAG1 gene expression under control of
            the LIFR promoter
  JOURNAL   Oncogene 16 (11), 1409-1416 (1998)
   PUBMED   9525740
REFERENCE   8  (residues 1 to 418)
  AUTHORS   Kas K, Roijer E, Voz M, Meyen E, Stenman G and Van de Ven WJ.
  TITLE     A 2-Mb YAC contig and physical map covering the chromosome 8q12
            breakpoint cluster region in pleomorphic adenomas of the salivary
            glands
  JOURNAL   Genomics 43 (3), 349-358 (1997)
   PUBMED   9268638
REFERENCE   9  (residues 1 to 418)
  AUTHORS   Kas K, Voz ML, Roijer E, Astrom AK, Meyen E, Stenman G and Van de
            Ven WJ.
  TITLE     Promoter swapping between the genes for a novel zinc finger protein
            and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12)
            translocations
  JOURNAL   Nat Genet 15 (2), 170-174 (1997)
   PUBMED   9020842
  REMARK    Erratum:[Nat Genet 1997 Apr;15(4):411]
REFERENCE   10 (residues 1 to 418)
  AUTHORS   Saal,H.M., Harbison,M.D. and Netchine,I.
  TITLE     Silver-Russell Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301499
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC347559.1 and AC107952.5.
            
            Summary: Pleomorphic adenoma gene 1 encodes a zinc finger protein
            with 2 putative nuclear localization signals. PLAG1, which is
            developmentally regulated, has been shown to be consistently
            rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is
            activated by the reciprocal chromosomal translocations involving
            8q12 in a subset of salivary gland pleomorphic adenomas. Three
            transcript variants encoding two different isoforms have been found
            for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (b) is
            shorter at the N-terminus compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.36850.1,
                                           DRR138524.1290098.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142363
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     Protein         1..418
                     /product="zinc finger protein PLAG1 isoform b"
                     /note="zinc finger protein PLAG1; pleiomorphic adenoma
                     gene 1; COL1A2/PLAG1 fusion; HAS2/PLAG1 fusion"
                     /calculated_mol_wt=46343
     Region          10..>58
                     /region_name="SUF4-like"
                     /note="N-terminal domain of Oryza sativa transcription
                     factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana
                     SUF4 (AtSUF4), and similar proteins; cd20908"
                     /db_xref="CDD:411020"
     Region          10..32
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          12..38
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          12..32
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <15..>154
                     /region_name="COG5236"
                     /note="Uncharacterized conserved protein, contains RING
                     Zn-finger [General function prediction only]"
                     /db_xref="CDD:227561"
     Site            order(17,27,34,36,40,47)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411020"
     Region          41..61
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          41..58
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          70..90
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(75,77,79,81..82,85..86,89,110,112,116..117,120..121,
                     124,138,140,142,144..145,148..149)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          105..125
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          133..151
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..418
                     /gene="PLAG1"
                     /gene_synonym="PSA; SGPA; SRS4; ZNF912"
                     /coded_by="NM_001114635.2:257..1513"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS47860.1"
                     /db_xref="GeneID:5324"
                     /db_xref="HGNC:HGNC:9045"
                     /db_xref="MIM:603026"
ORIGIN      
        1 mathspekth kcnycekmfh rkdhlknhlh thdpnketfk ceecgknynt klgfkrhlal
       61 haatsgdltc kvclqtfest gvllehlksh agkssggvke kkhqcehcdr rfytrkdvrr
      121 hmvvhtgrkd flcqycaqrf grkdhltrhm kkshnqellk vktepvdfld pftcnvsvpi
      181 kdellpvmsl pssellskpf tntlqlnlyn tpfqsmqssg sahqmittlp lgmtcpidmd
      241 tvhpshhlsf kypfsstsya isipekeqpl kgeiesylme lqggvpsssq dsqasssskl
      301 gldpqigsld dgagdlslsk ssisisdpln tpaldfsqlf nfiplngppy nplsvgslgm
      361 sysqeeahss vsqlppqtqd lqdpantigl gslhslsaaf tsslststtl prfhqafq
//
LOCUS       NP_001363816             240 aa            linear   PRI 18-MAR-2023
DEFINITION  tumor necrosis factor ligand superfamily member 14 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001363816 XP_016882906
VERSION     NP_001363816.1
DBSOURCE    REFSEQ: accession NM_001376887.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 240)
  AUTHORS   Abudukeyoumu A, Lai ZZ, Lu JJ, Zhang X, Hou DY, Dong J, Wu JN, Li
            MQ and Xie F.
  TITLE     A LIGHT-HVEM/LTbetaR axis contributes to the fibrosis of
            intrauterine adhesion
  JOURNAL   J Reprod Immunol 153, 103693 (2022)
   PUBMED   35987137
  REMARK    GeneRIF: A LIGHT-HVEM/LTbetaR axis contributes to the fibrosis of
            intrauterine adhesion.
REFERENCE   2  (residues 1 to 240)
  AUTHORS   Ikawa T, Ichimura Y, Miyagawa T, Fukui Y, Toyama S, Omatsu J, Awaji
            K, Norimatsu Y, Watanabe Y, Yoshizaki A, Sato S and Asano Y.
  TITLE     The Contribution of LIGHT (TNFSF14) to the Development of Systemic
            Sclerosis by Modulating IL-6 and T Helper Type 1 Chemokine
            Expression in Dermal Fibroblasts
  JOURNAL   J Invest Dermatol 142 (6), 1541-1551 (2022)
   PUBMED   34838790
  REMARK    GeneRIF: The Contribution of LIGHT (TNFSF14) to the Development of
            Systemic Sclerosis by Modulating IL-6 and T Helper Type 1 Chemokine
            Expression in Dermal Fibroblasts.
REFERENCE   3  (residues 1 to 240)
  AUTHORS   Manresa MC, Wu A, Nhu QM, Chiang AWT, Okamoto K, Miki H, Kurten R,
            Pham E, Duong LD, Lewis NE, Akuthota P, Croft M and Aceves SS.
  TITLE     LIGHT controls distinct homeostatic and inflammatory gene
            expression profiles in esophageal fibroblasts via differential HVEM
            and LTbetaR-mediated mechanisms
  JOURNAL   Mucosal Immunol 15 (2), 327-337 (2022)
   PUBMED   34903876
  REMARK    GeneRIF: LIGHT controls distinct homeostatic and inflammatory gene
            expression profiles in esophageal fibroblasts via differential HVEM
            and LTbetaR-mediated mechanisms.
REFERENCE   4  (residues 1 to 240)
  AUTHORS   Liu W, Chou TF, Garrett-Thomson SC, Seo GY, Fedorov E, Ramagopal
            UA, Bonanno JB, Wang Q, Kim K, Garforth SJ, Kakugawa K, Cheroutre
            H, Kronenberg M and Almo SC.
  TITLE     HVEM structures and mutants reveal distinct functions of binding to
            LIGHT and BTLA/CD160
  JOURNAL   J Exp Med 218 (12) (2021)
   PUBMED   34709351
  REMARK    GeneRIF: HVEM structures and mutants reveal distinct functions of
            binding to LIGHT and BTLA/CD160.
REFERENCE   5  (residues 1 to 240)
  AUTHORS   Zuccala M, Barizzone N, Boggio E, Gigliotti L, Sorosina M, Basagni
            C, Bordoni R, Clarelli F, Anand S, Mangano E, Vecchio D, Corsetti
            E, Martire S, Perga S, Ferrante D, Gajofatto A, Ivashynka A, Solaro
            C, Cantello R, Martinelli V, Comi G, Filippi M, Esposito F, Leone
            M, De Bellis G, Dianzani U, Martinelli-Boneschi F and D'Alfonso S.
  TITLE     Genomic and functional evaluation of TNFSF14 in multiple sclerosis
            susceptibility
  JOURNAL   J Genet Genomics 48 (6), 497-507 (2021)
   PUBMED   34353742
  REMARK    GeneRIF: Genomic and functional evaluation of TNFSF14 in multiple
            sclerosis susceptibility.
REFERENCE   6  (residues 1 to 240)
  AUTHORS   Yu KY, Kwon B, Ni J, Zhai Y, Ebner R and Kwon BS.
  TITLE     A newly identified member of tumor necrosis factor receptor
            superfamily (TR6) suppresses LIGHT-mediated apoptosis
  JOURNAL   J Biol Chem 274 (20), 13733-13736 (1999)
   PUBMED   10318773
REFERENCE   7  (residues 1 to 240)
  AUTHORS   Harrop JA, McDonnell PC, Brigham-Burke M, Lyn SD, Minton J, Tan KB,
            Dede K, Spampanato J, Silverman C, Hensley P, DiPrinzio R, Emery
            JG, Deen K, Eichman C, Chabot-Fletcher M, Truneh A and Young PR.
  TITLE     Herpesvirus entry mediator ligand (HVEM-L), a novel ligand for
            HVEM/TR2, stimulates proliferation of T cells and inhibits HT29
            cell growth
  JOURNAL   J Biol Chem 273 (42), 27548-27556 (1998)
   PUBMED   9765287
REFERENCE   8  (residues 1 to 240)
  AUTHORS   Zhai Y, Guo R, Hsu TL, Yu GL, Ni J, Kwon BS, Jiang GW, Lu J, Tan J,
            Ugustus M, Carter K, Rojas L, Zhu F, Lincoln C, Endress G, Xing L,
            Wang S, Oh KO, Gentz R, Ruben S, Lippman ME, Hsieh SL and Yang D.
  TITLE     LIGHT, a novel ligand for lymphotoxin beta receptor and TR2/HVEM
            induces apoptosis and suppresses in vivo tumor formation via gene
            transfer
  JOURNAL   J Clin Invest 102 (6), 1142-1151 (1998)
   PUBMED   9739048
REFERENCE   9  (residues 1 to 240)
  AUTHORS   Marsters SA, Sheridan JP, Pitti RM, Brush J, Goddard A and
            Ashkenazi A.
  TITLE     Identification of a ligand for the death-domain-containing receptor
            Apo3
  JOURNAL   Curr Biol 8 (9), 525-528 (1998)
   PUBMED   9560343
REFERENCE   10 (residues 1 to 240)
  AUTHORS   Mauri DN, Ebner R, Montgomery RI, Kochel KD, Cheung TC, Yu GL,
            Ruben S, Murphy M, Eisenberg RJ, Cohen GH, Spear PG and Ware CF.
  TITLE     LIGHT, a new member of the TNF superfamily, and lymphotoxin alpha
            are ligands for herpesvirus entry mediator
  JOURNAL   Immunity 8 (1), 21-30 (1998)
   PUBMED   9462508
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008760.7, BC018058.1 and
            AF064090.1.
            On Nov 20, 2019 this sequence version replaced XP_016882906.1.
            
            Summary: The protein encoded by this gene is a member of the tumor
            necrosis factor (TNF) ligand family. This protein is a ligand for
            TNFRSF14, which is a member of the tumor necrosis factor receptor
            superfamily, and which is also known as a herpesvirus entry
            mediator (HVEM). This protein may function as a costimulatory
            factor for the activation of lymphoid cells and as a deterrent to
            infection by herpesvirus. This protein has been shown to stimulate
            the proliferation of T cells, and trigger apoptosis of various
            tumor cells. This protein is also reported to prevent tumor
            necrosis factor alpha mediated apoptosis in primary hepatocyte. Two
            alternatively spliced transcript variant encoding distinct isoforms
            have been reported. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK292037.1, SRR14038194.3250868.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000675206.1/ ENSP00000502837.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..240
                     /product="tumor necrosis factor ligand superfamily member
                     14 isoform 1"
                     /note="tumor necrosis factor ligand 1D; herpesvirus entry
                     mediator ligand; tumor necrosis factor (ligand)
                     superfamily, member 14; tumor necrosis factor superfamily
                     member 14"
                     /calculated_mol_wt=26219
     Site            38..58
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43557.2)"
     Site            82..83
                     /site_type="cleavage"
                     /note="Cleavage. /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O43557.2)"
     Region          94..238
                     /region_name="TNF"
                     /note="Tumor Necrosis Factor; TNF superfamily members
                     include the cytokines: TNF (TNF-alpha), LT
                     (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL),
                     Fas ligand, and osteoprotegerin (OPG) ligand. These
                     proteins generally have an intracellular N-terminal...;
                     cd00184"
                     /db_xref="CDD:238108"
     Site            order(97,142,144,202,207,234,238)
                     /site_type="other"
                     /note="trimer interface [polypeptide binding]"
                     /db_xref="CDD:238108"
     Site            102
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|Ref.10; propagated from
                     UniProtKB/Swiss-Prot (O43557.2)"
     Site            order(115..116,121,163,170,175)
                     /site_type="active"
                     /note="receptor binding sites [active]"
                     /db_xref="CDD:238108"
     CDS             1..240
                     /gene="TNFSF14"
                     /gene_synonym="CD258; HVEML; LIGHT; LTg"
                     /coded_by="NM_001376887.1:92..814"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS12171.1"
                     /db_xref="GeneID:8740"
                     /db_xref="HGNC:HGNC:11930"
                     /db_xref="MIM:604520"
ORIGIN      
        1 meesvvrpsv fvvdgqtdip ftrlgrshrr qscsvarvgl glllllmgag lavqgwfllq
       61 lhwrlgemvt rlpdgpagsw eqliqerrsh evnpaahltg anssltgsgg pllwetqlgl
      121 aflrglsyhd galvvtkagy yyiyskvqlg gvgcplglas tithglykrt prypeelell
      181 vsqqspcgra tsssrvwwds sflggvvhle agekvvvrvl derlvrlrdg trsyfgafmv
//
LOCUS       NP_001373087            1711 aa            linear   PRI 19-MAR-2023
DEFINITION  ankyrin-2 isoform 64 [Homo sapiens].
ACCESSION   NP_001373087
VERSION     NP_001373087.1
DBSOURCE    REFSEQ: accession NM_001386158.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1711)
  AUTHORS   Zhuang L, Ding W, Ding W, Zhang Q, Xu X and Xi D.
  TITLE     lncRNA ZNF667-AS1 (NR_036521.1) inhibits the progression of
            colorectal cancer via regulating ANK2/JAK2 expression
  JOURNAL   J Cell Physiol 236 (3), 2178-2193 (2021)
   PUBMED   32853419
  REMARK    GeneRIF: lncRNA ZNF667-AS1 (NR_036521.1) inhibits the progression
            of colorectal cancer via regulating ANK2/JAK2 expression.
REFERENCE   2  (residues 1 to 1711)
  AUTHORS   Schabort JJ, Nam AR, Lee KH, Kim SW, Lee JE and Cho JY.
  TITLE     ANK2 Hypermethylation in Canine Mammary Tumors and Human Breast
            Cancer
  JOURNAL   Int J Mol Sci 21 (22), 8697 (2020)
   PUBMED   33218035
  REMARK    GeneRIF: ANK2 Hypermethylation in Canine Mammary Tumors and Human
            Breast Cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1711)
  AUTHORS   Jeong S, Park YJ, Yun W, Lee ST, Choi JR, Suh C, Jo JC, Cha HJ,
            Jeong JY, Chang H, Cha YJ, Kim H, Park MJ, Song W, Cho EH, Jeong
            EG, Lee J, Park Y, Lee YS, Kim DJ and Lee HS.
  TITLE     Genetic heterogeneity and prognostic impact of recurrent ANK2 and
            TP53 mutations in mantle cell lymphoma: a multi-centre cohort study
  JOURNAL   Sci Rep 10 (1), 13359 (2020)
   PUBMED   32770099
  REMARK    GeneRIF: Genetic heterogeneity and prognostic impact of recurrent
            ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre
            cohort study.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1711)
  AUTHORS   Sharma N, Bham K and Senapati S.
  TITLE     Human ankyrins and their contribution to disease biology: An update
  JOURNAL   J Biosci 45 (2020)
   PUBMED   33410423
  REMARK    GeneRIF: Human ankyrins and their contribution to disease biology:
            An update.
            Review article
REFERENCE   5  (residues 1 to 1711)
  AUTHORS   Scotland P, Zhou D, Benveniste H and Bennett V.
  TITLE     Nervous system defects of AnkyrinB (-/-) mice suggest functional
            overlap between the cell adhesion molecule L1 and 440-kD AnkyrinB
            in premyelinated axons
  JOURNAL   J Cell Biol 143 (5), 1305-1315 (1998)
   PUBMED   9832558
REFERENCE   6  (residues 1 to 1711)
  AUTHORS   Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB,
            Donnelly P, Vergnaud G, Bachner L, Moisan JP et al.
  TITLE     Mapping of a gene for long QT syndrome to chromosome 4q25-27
  JOURNAL   Am J Hum Genet 57 (5), 1114-1122 (1995)
   PUBMED   7485162
REFERENCE   7  (residues 1 to 1711)
  AUTHORS   Chan W, Kordeli E and Bennett V.
  TITLE     440-kD ankyrinB: structure of the major developmentally regulated
            domain and selective localization in unmyelinated axons
  JOURNAL   J Cell Biol 123 (6 Pt 1), 1463-1473 (1993)
   PUBMED   8253844
REFERENCE   8  (residues 1 to 1711)
  AUTHORS   Alders,M., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301308
REFERENCE   9  (residues 1 to 1711)
  AUTHORS   Tse WT, Menninger JC, Yang-Feng TL, Francke U, Sahr KE, Lux SE,
            Ward DC and Forget BG.
  TITLE     Isolation and chromosomal localization of a novel nonerythroid
            ankyrin gene
  JOURNAL   Genomics 10 (4), 858-866 (1991)
   PUBMED   1833308
REFERENCE   10 (residues 1 to 1711)
  AUTHORS   Otto E, Kunimoto M, McLaughlin T and Bennett V.
  TITLE     Isolation and characterization of cDNAs encoding human brain
            ankyrins reveal a family of alternatively spliced genes
  JOURNAL   J Cell Biol 114 (2), 241-253 (1991)
   PUBMED   1830053
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC017007.9, AC004057.1 and
            AC093900.3.
            
            Summary: This gene encodes a member of the ankyrin family of
            proteins that link the integral membrane proteins to the underlying
            spectrin-actin cytoskeleton. Ankyrins play key roles in activities
            such as cell motility, activation, proliferation, contact and the
            maintenance of specialized membrane domains. Most ankyrins are
            typically composed of three structural domains: an amino-terminal
            domain containing multiple ankyrin repeats; a central region with a
            highly conserved spectrin binding domain; and a carboxy-terminal
            regulatory domain which is the least conserved and subject to
            variation. The protein encoded by this gene is required for
            targeting and stability of Na/Ca exchanger 1 in cardiomyocytes.
            Mutations in this gene cause long QT syndrome 4 and cardiac
            arrhythmia syndrome. Multiple transcript variants encoding
            different isoforms have been described. [provided by RefSeq, Dec
            2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2145743,
                              SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1711
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25-q26"
     Protein         1..1711
                     /product="ankyrin-2 isoform 64"
                     /note="ankyrin B; ankyrin 2, neuronal; ankyrin, brain;
                     ankyrin-2, nonerythrocytic; non-erythroid ankyrin"
                     /calculated_mol_wt=188342
     Region          16..63
                     /region_name="Ank_4"
                     /note="Ankyrin repeats (many copies); pfam13637"
                     /db_xref="CDD:372654"
     Site            order(42,44,48..49,52..54,56..57,61,64,73,75,77,81..82,
                     85..87,89..90,94,97,106,108,110,114..115,118..120,
                     122..123,127,130)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          42..73
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          47..134
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          75..106
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          108..133
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          114..>432
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          174..201
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(203,205,209..210,213..215,217..218,222,225,234,236,
                     238,242..243,246..248,250..251,255,258,267,269,271,
                     275..276,279..281,283..284,288,291)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          203..234
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          236..267
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          269..299
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          302..333
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          338..366
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(368,370,374..375,378..380,382..383,387,390,399,401,
                     403,407..408,411..413,415..416,420,423,432,434,436,
                     440..441,444..446,448..449,453,456)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          368..399
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          382..>657
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          401..432
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          434..459
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          468..498
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(469,473..474,477..479,481..482,486,489,498,500,502,
                     506..507,510..512,514..515,519,522,531,533,535,539..540,
                     543..545,547..548,552,555)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          500..531
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          533..562
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(566,568,572..573,576..578,580..581,585,588,597,599,
                     601,605..606,609..611,613..614,618,621,630,632,634,
                     638..639,642..644,646..647,651,654)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          566..597
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          599..630
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          632..661
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          633..685
                     /region_name="Ank_4"
                     /note="Ankyrin repeats (many copies); pfam13637"
                     /db_xref="CDD:372654"
     Region          838..942
                     /region_name="ZU5"
                     /note="Domain present in ZO-1 and Unc5-like netrin
                     receptors; smart00218"
                     /db_xref="CDD:128514"
     Region          1163..1292
                     /region_name="UPA_2"
                     /note="UPA domain; pfam17809"
                     /db_xref="CDD:375346"
     Region          1321..1404
                     /region_name="Death_ank2"
                     /note="Death domain of Ankyrin-2; cd08804"
                     /db_xref="CDD:260066"
     Region          <1477..1634
                     /region_name="NESP55"
                     /note="Neuroendocrine-specific golgi protein P55 (NESP55);
                     pfam06390"
                     /db_xref="CDD:115071"
     CDS             1..1711
                     /gene="ANK2"
                     /gene_synonym="ANK-2; brank-2; CFAP87; FAP87; LQT4"
                     /coded_by="NM_001386158.1:189..5324"
                     /note="isoform 64 is encoded by transcript variant 64"
                     /db_xref="GeneID:287"
                     /db_xref="HGNC:HGNC:493"
                     /db_xref="MIM:106410"
ORIGIN      
        1 mttmlqksds nasflraara gnldkvveyl kggidintcn qnglnalhla akeghvglvq
       61 ellgrgssvd satkkgntal hiaslagqae vvkvlvkega ninaqsqngf tplymaaqen
      121 hidvvkylle nganqstate dgftplaval qqghnqavai llendtkgkv rlpalhiaar
      181 kddtksaall lqndhnadvq sksgftplhi aahygnvnva tlllnrgaav dftarngitp
      241 lhvaskrgnt nmvkllldrg gqidaktrdg ltplhcaars ghdqvvelll ergapllart
      301 knglsplhma aqgdhvecvk hllqhkapvd dvtldyltal hvaahcghyr vtkllldkra
      361 npnaralrge talhmaarag qvevvrcllr ngalvdarar eeqtplhias rlgkteivql
      421 llqhmahpda attngytplh isaregqvdv asvlleagaa hslatkkgft plhvaakygs
      481 ldvaklllqr raaadsagkn gytplhiaak knqmqiastl lnygaetniv tkqgvtplhl
      541 asqeghtdmv tllldkgani hmstksglts lhlaaqedkv nvadiltkhg adqdahtklg
      601 ytplivachy gnvkmvnfll kqganvnakt kngytplhqa aqqghthiin vllqhgakpn
      661 attangntal aiakrlgyis vvdtlkvvte evttttttit ekhklnvpet mtevldvsde
      721 egddtmtgdg geylrpedlk elgddslpss qfldgmnylr ysleggrsds lrsfssdrsh
      781 tlshasylrd savmddsvvi pshqvstlak eaernsyrls wgtenldnva lssspihsgf
      841 lvsfmvdarg gamrgcrhng lriiipprkc taptrvtcrl vkrhrlatmp pmvegeglas
      901 rlievgpsga qflgpvivei phfaalrgke relvvlrsen gdswkehfcd ytedelneil
      961 ngmdevldsp edlekkricr iitrdfpqyf avvsrikqds nligpeggvl sstvvpqvqa
     1021 vfpegaltkr irvglqaqpm hselvkkilg nkatfspivt leprrrkfhk pitmtipvpk
     1081 assdvmlngf ggdaptlrll csitggttpa qweditgttp ltfvnecvsf ttnvsarfwl
     1141 idcrqiqesv tfasqvyrei icvpymakfv vfakshdpie arlrcfcmtd dkvdktleqq
     1201 enfaevarsr dvevlegkpi yvdcfgnlvp ltksgqhhif sffafkenrl plfvkvrdtt
     1261 qepcgrlsfm kepkstrglv hqaicnlnit lpiytkeses dqeqeeeidm tseknpqdeq
     1321 erieerlayi adhlgfswte lareldftee qihqirienp nslqdqshal lkywlerdgk
     1381 hatdtnlvec ltkinrmdiv hlmetntepl qerishsyae ieqtitldhs egfsvlqeel
     1441 ctaqhkqkee qavskesetc dhppivseed isvgystfqd gvpktegdss atalfpqthk
     1501 eqvqqdfsgk mqdlpeessl eyqqeyfvtt pgtetsetqk amivpsspsk tpeevstpae
     1561 eeklylqtpt sserggspii qepeepsehr eessprktsl vivesadnqp etcerldeda
     1621 afekgddmpe ippetvteee yidehghtvv kkvtrkiirr yvssegteke eimvqgmpqe
     1681 pvnieegdgy skvikrvvlk sdteqsednn e
//
LOCUS       NP_001307980             165 aa            linear   PRI 19-MAR-2023
DEFINITION  PMS1 protein homolog 1 isoform h [Homo sapiens].
ACCESSION   NP_001307980
VERSION     NP_001307980.1
DBSOURCE    REFSEQ: accession NM_001321051.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 165)
  AUTHORS   Landry KK, Seward DJ, Dragon JA, Slavik M, Xu K, McKinnon WC,
            Colello L, Sweasy J, Wallace SS, Cuke M and Wood ME.
  TITLE     Investigation of discordant sibling pairs from hereditary breast
            cancer families and analysis of a rare PMS1 variant
  JOURNAL   Cancer Genet 260-261, 30-36 (2022)
   PUBMED   34852986
  REMARK    GeneRIF: Investigation of discordant sibling pairs from hereditary
            breast cancer families and analysis of a rare PMS1 variant.
REFERENCE   2  (residues 1 to 165)
  AUTHORS   Graur,F., Puia,A., Mois,E., Pop,P., Berar,M., Elisei,R.,
            Zaharie,F., Nechita,V., Rusu,I., Buiga,R., Puia,C. and Al Hajjar,N.
  TITLE     Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their correlations
            with clinical data in rectal mucinous adenocarcinoma
  JOURNAL   Ann Ital Chir 93, 188-194 (2022)
   PUBMED   34807001
  REMARK    GeneRIF: Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their
            correlations with clinical data in rectal mucinous adenocarcinoma.
REFERENCE   3  (residues 1 to 165)
  AUTHORS   Kim M, Park J, Bouhaddou M, Kim K, Rojc A, Modak M, Soucheray M,
            McGregor MJ, O'Leary P, Wolf D, Stevenson E, Foo TK, Mitchell D,
            Herrington KA, Munoz DP, Tutuncuoglu B, Chen KH, Zheng F, Kreisberg
            JF, Diolaiti ME, Gordan JD, Coppe JP, Swaney DL, Xia B, van 't Veer
            L, Ashworth A, Ideker T and Krogan NJ.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   4  (residues 1 to 165)
  AUTHORS   Yang J, Huang Y, Feng Y, Li H, Feng T, Chen J, Yin L, Wang W, Wang
            S, Liu Y, Song Y, Li Y, Jin J, Tan W and Lin D.
  TITLE     Associations of Genetic Variations in Mismatch Repair Genes MSH3
            and PMS1 with Acute Adverse Events and Survival in Patients with
            Rectal Cancer Receiving Postoperative Chemoradiotherapy
  JOURNAL   Cancer Res Treat 51 (3), 1198-1206 (2019)
   PUBMED   30590005
  REMARK    GeneRIF: Study suggests that rs1233255 SNP in PMS1 is associated
            with acute adverse events (AEs), and three SNPs, including
            rs4920657, rs5743030 and rs5743100 in PMS1, are associated with
            survival of rectal cancer patients receiving postoperative
            chemoradiotherapy (CRT). Therefore, these polymorphisms may be
            potential independent biomarkers for predicting AEs and prognosis
            in rectal cancer patients receiving postoperative CRT.
REFERENCE   5  (residues 1 to 165)
  AUTHORS   Traver S, Coulombe P, Peiffer I, Hutchins JR, Kitzmann M, Latreille
            D and Mechali M.
  TITLE     MCM9 Is Required for Mammalian DNA Mismatch Repair
  JOURNAL   Mol Cell 59 (5), 831-839 (2015)
   PUBMED   26300262
REFERENCE   6  (residues 1 to 165)
  AUTHORS   Kolodner R.
  TITLE     Biochemistry and genetics of eukaryotic mismatch repair
  JOURNAL   Genes Dev 10 (12), 1433-1442 (1996)
   PUBMED   8666228
  REMARK    Review article
REFERENCE   7  (residues 1 to 165)
  AUTHORS   Horii A, Han HJ, Sasaki S, Shimada M and Nakamura Y.
  TITLE     Cloning, characterization and chromosomal assignment of the human
            genes homologous to yeast PMS1, a member of mismatch repair genes
  JOURNAL   Biochem Biophys Res Commun 204 (3), 1257-1264 (1994)
   PUBMED   7980603
REFERENCE   8  (residues 1 to 165)
  AUTHORS   Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM,
            Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM et al.
  TITLE     Mutations of two PMS homologues in hereditary nonpolyposis colon
            cancer
  JOURNAL   Nature 371 (6492), 75-80 (1994)
   PUBMED   8072530
REFERENCE   9  (residues 1 to 165)
  AUTHORS   Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen
            CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD et al.
  TITLE     Mutation of a mutL homolog in hereditary colon cancer
  JOURNAL   Science 263 (5153), 1625-1629 (1994)
   PUBMED   8128251
REFERENCE   10 (residues 1 to 165)
  AUTHORS   Idos,G. and Valle,L.
  TITLE     Lynch Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301390
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC347859.1 and BC084548.1.
            
            Summary: This gene encodes a protein belonging to the DNA mismatch
            repair mutL/hexB family. This protein is thought to be involved in
            the repair of DNA mismatches, and it can form heterodimers with
            MLH1, a known DNA mismatch repair protein. Mutations in this gene
            cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3)
            either alone or in combination with mutations in other genes
            involved in the HNPCC phenotype, which is also known as Lynch
            syndrome. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC084548.1, SRR14038194.1507281.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142670, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..165
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     Protein         1..165
                     /product="PMS1 protein homolog 1 isoform h"
                     /note="human homolog of yeast mutL; PMS1 postmeiotic
                     segregation increased 1; PMS1 protein homolog 1; mismatch
                     repair gene PMSL1; rhabdomyosarcoma antigen MU-RMS-40.10B;
                     rhabdomyosarcoma antigen MU-RMS-40.10E; DNA mismatch
                     repair protein PMS1"
                     /calculated_mol_wt=17707
     Region          1..>140
                     /region_name="mutl"
                     /note="DNA mismatch repair protein MutL; TIGR00585"
                     /db_xref="CDD:273155"
     CDS             1..165
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /coded_by="NM_001321051.2:165..662"
                     /note="isoform h is encoded by transcript variant 13"
                     /db_xref="CCDS:CCDS82543.1"
                     /db_xref="GeneID:5378"
                     /db_xref="HGNC:HGNC:9121"
                     /db_xref="MIM:600258"
ORIGIN      
        1 mkqlpaatvr llsssqiits vvsvvkelie nsldagatsv dvklenygfd kievrdngeg
       61 ikavdapvma mkyytskins hedlenltty gfrgealgsi cciaevlitt rtaadnfstq
      121 yvldgsghil sqkpshlgqg shsvtqaglq whhlgslqpl pprlk
//
LOCUS       XP_047304212            1242 aa            linear   PRI 20-MAR-2023
DEFINITION  multiple epidermal growth factor-like domains protein 6 isoform X21
            [Homo sapiens].
ACCESSION   XP_047304212
VERSION     XP_047304212.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448256.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1242
                     /product="multiple epidermal growth factor-like domains
                     protein 6 isoform X21"
                     /calculated_mol_wt=128588
     Region          12..33
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          <25..67
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Region          80..115
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          <155..194
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     CDS             1..1242
                     /gene="MEGF6"
                     /gene_synonym="EGFL3"
                     /coded_by="XM_047448256.1:1070..4798"
                     /db_xref="GeneID:1953"
                     /db_xref="HGNC:HGNC:3232"
                     /db_xref="MIM:604266"
ORIGIN      
        1 mhrcqvvrgl arcechvgyq laadgkaced vdecaaglaq cahgclntqg sfkcvchagy
       61 elgadgrqcy riemeivnsc eannggcshg cshtsagplc tcprgyeldt dqrtcidvdd
      121 cadspccqqv ctnnpggyec gcyagyrlsa dgcgcedvde cassrggceh hctnlagsfq
      181 csceagyrlh edrrgcsple epmvdldgel pfvrplphia vlqdelpqlf qdddvgadee
      241 eaelrgehtl tekfvcldds fghdcsltcd dcrnggtcll gldgcdcpeg wtglicnetc
      301 ppdtfgkncs fscscqnggt cdsvtgacrc ppgvsgtnce dgcpkgyygk hcrkkcncan
      361 rgrchrlyga clcdpglygr fchltcppwa fgpgcseecq cvqphtqscd krdgscscka
      421 gfrgercqae celgyfgpgc wqactcpvgv acdsvsgecg krcpagfqge dcgqecpvgt
      481 fgvncssscs cggapchgvt gqcrcppgrt gedceadcpe grwglgcqei cpacqhaarc
      541 dpetgaclcl pgfvgsrcqd vcpagwygps cqtrcscand ghchpatghc scapgwtgfs
      601 cqracdtghw gpdcshpcnc saghgscdai sglclceagy vgprceqqcp qghfgpgceq
      661 rcqcqhgaac dhvsgactcp agwrgtfceh acpagffgld crsacnctag aacdavngsc
      721 lcpagrrgpr caetcpahty ghncsqacac fngascdpvh gqchcapgwm gpsclqacpa
      781 glygdncrhs clcqnggtcd pvsghcacpe gwaglaceke clprdvragc rhsggclngg
      841 lcdphtgrcl cpagwtgdkc qspclrgwfg eacaqrcscp pgaachhvtg acrcppgftg
      901 sgceqgcppg rygpgceqlc gclnggscda atgacrcptg flgtdcnltc pqgrfgpnct
      961 hvcgcgqgaa cdpvtgtclc ppgragvrce rgcpqnrfgv gcehtcscrn gglchasngs
     1021 cscglgwtgr hcelacppgr ygaachlecs chnnstcepa tgtcrcgpgf ygqacehpcp
     1081 pgfhgagcqg lcwcqhgapc dpisgrclcp agfhghfcer gcepgsfgeg chqrcdcdgg
     1141 apcdpvtglc lcppgrsgat cnldcrrgqf gpsctlhcdc gggadcdpvs gqchcvdgym
     1201 gptcreggpl rlpenpslaq gsagtlpass rptsrsggpa rh
//
LOCUS       XP_006710788             423 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 39B isoform X3 [Homo sapiens].
ACCESSION   XP_006710788
VERSION     XP_006710788.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006710725.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..423
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..423
                     /product="transmembrane protein 39B isoform X3"
                     /calculated_mol_wt=48122
     Region          51..414
                     /region_name="Tmp39"
                     /note="Putative transmembrane protein; pfam10271"
                     /db_xref="CDD:431187"
     CDS             1..423
                     /gene="TMEM39B"
                     /coded_by="XM_006710725.5:110..1381"
                     /db_xref="GeneID:55116"
                     /db_xref="HGNC:HGNC:25510"
ORIGIN      
        1 mggrrgpnrt sycrnplcep gssggssgsh tssasvtsvr srtrsssgtg lsspplatqt
       61 vvplqhckip elpvqasilf elqlffcqli alfvhyiniy ktvwwyppsh ppshtslnfh
      121 lidfnllmvt tivlgrrfig sivkeasqrg kvslfrsill fltrftvlta tgwslcrsli
      181 hlfrtysfln llflcypfgm yipflqlncd lrktslfnhm asmgpreavs glaksrdyll
      241 tlretwkqht rqlygpdamp thacclspsl irseveflkm dfnwrmkevl vssmlsayyv
      301 afvpvwfvkn thyydkrwsc elfllvsist svilmqhllp asycdllhka aahlgcwqkv
      361 dpalcsnvlq hpwteecmwp qgvlvkhskn vykavghynv aipsdvshfr fhifenigqr
      421 err
//
LOCUS       XP_005245496             790 aa            linear   PRI 20-MAR-2023
DEFINITION  P-selectin isoform X2 [Homo sapiens].
ACCESSION   XP_005245496
VERSION     XP_005245496.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005245439.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..790
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..790
                     /product="P-selectin isoform X2"
                     /calculated_mol_wt=86473
     Region          42..160
                     /region_name="CLECT_selectins_like"
                     /note="C-type lectin-like domain (CTLD) of the type found
                     in the type 1 transmembrane proteins: P(platlet)-,
                     E(endothelial)-, and L(leukocyte)- selectins (sels);
                     cd03592"
                     /db_xref="CDD:153062"
     Site            order(89,121,123..124,133,135,146..148)
                     /site_type="other"
                     /note="carbohydrate binding site [chemical binding]"
                     /db_xref="CDD:153062"
     Site            order(89,121,123,129,133,135,146..148)
                     /site_type="other"
                     /note="PSGL-1 peptide binding surface"
                     /db_xref="CDD:153062"
     Region          <168..195
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Region          219..443
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     Region          342..567
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     Region          505..761
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     CDS             1..790
                     /gene="SELP"
                     /gene_synonym="CD62; CD62P; GMP140; GRMP; LECAM3; PADGEM;
                     PSEL"
                     /coded_by="XM_005245439.3:51..2423"
                     /db_xref="GeneID:6403"
                     /db_xref="HGNC:HGNC:10721"
                     /db_xref="MIM:173610"
ORIGIN      
        1 mancqiaily qrfqrvvfgi sqllcfsali seltnqkeva awtyhystka yswnisrkyc
       61 qnrytdlvai qnkneidyln kvlpyyssyy wigirknnkt wtwvgtkkal tneaenwadn
      121 epnnkrnned cveiyiksps apgkwndehc lkkkhalcyt ascqdmscsk qgecletign
      181 ytcscypgfy gpeceyvrec gelelpqhvl mncshplgnf sfnsqcsfhc tdgyqvngps
      241 kleclasgiw tnkppqclaa qcpplkiper gnmtclhsak afqhqsscsf sceegfalvg
      301 pevvqctasg vwtapapvck avqcqhleap segtmdcvhp ltafaygssc kfecqpgyrv
      361 rgldmlrcid sghwsaplpt ceaisceple spvhgsmdcs pslrafqydt ncsfrcaegf
      421 mlrgadivrc dnlgqwtapa pvcqalqcqd lpvpnearvn cshpfgafry qsvcsftcne
      481 glllvgasvl qclatgnwns vppecqaipc tpllspqngt mtcvqplgss sykstcqfic
      541 degyslsgpe rldctrsgrw tdsppmceai kcpelfapeq gsldcsdtrg efnvgstchf
      601 scdngfkleg pnnvecttsg rwsatpptck giaslptpgv qcpalttpgq gtmycrhhpg
      661 tfgfnttcyf gcnagftlig dstlscrpsg qwtavtpacr avkcselhvn kpiamncsnl
      721 wgnfsygsic sfhclegqll ngsaqtacqe nghwsttvpt cqddgkcpln phshlgtygv
      781 ftnaafdpsp
//
LOCUS       XP_006717498             288 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA/RNA-binding protein KIN17 isoform X2 [Homo sapiens].
ACCESSION   XP_006717498
VERSION     XP_006717498.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006717435.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..288
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..288
                     /product="DNA/RNA-binding protein KIN17 isoform X2"
                     /calculated_mol_wt=32707
     Region          <1..71
                     /region_name="Kin17_mid"
                     /note="Domain of Kin17 curved DNA-binding protein;
                     pfam10357"
                     /db_xref="CDD:431229"
     Region          170..222
                     /region_name="KN17_SH3"
                     /note="KN17 SH3-like C-terminal domain; pfam18131"
                     /db_xref="CDD:407963"
     Region          233..>267
                     /region_name="KOW"
                     /note="an acronym for the authors' surnames (Kyrpides,
                     Ouzounis and Woese); cl00354"
                     /db_xref="CDD:444860"
     CDS             1..288
                     /gene="KIN"
                     /gene_synonym="BTCD; KIN17; Rts2"
                     /coded_by="XM_006717435.5:284..1150"
                     /db_xref="GeneID:22944"
                     /db_xref="HGNC:HGNC:6327"
                     /db_xref="MIM:601720"
ORIGIN      
        1 mnatqwetlt dftkwlgreg lckvdetpkg wyiqyidrdp etirrqlele kkkkqdldde
       61 ektakfieeq vrrglegkeq evptftelsr endeekvtfn lskgacsssg atssksstlg
      121 psalktigss asvkrkessq sstqskekkk kksaldeime ieeekkrtar tdywlqpeii
      181 vkiitkklge kyhkkkaivk evidkytavv kmidsgdklk ldqthletvi papgkrilvl
      241 nggyrgnegt lesinektfs ativietvsl ftqrqkfqna lkmchsff
//
LOCUS       XP_047282069             205 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124902393 [Homo sapiens].
ACCESSION   XP_047282069
VERSION     XP_047282069.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426113.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..205
                     /product="uncharacterized protein LOC124902393"
                     /calculated_mol_wt=22299
     CDS             1..205
                     /gene="LOC124902393"
                     /coded_by="XM_047426113.1:96..713"
                     /db_xref="GeneID:124902393"
ORIGIN      
        1 mgfslsptwk aepclvdlgs gitpydsegl ilsereagqp gcggngvpll mpvavfvhlh
       61 vtlaemnatw npthrsrlph arektalpvl awlcvglyll tgpqlarale qlwgprpgqe
      121 sqlrtrrtee dgvgkssslp yprplpaste grtaivppyl ealictklar aefsankdsa
      181 rrhfrkvadr wleaglgest aekhf
//
LOCUS       XP_047283805             258 aa            linear   PRI 20-MAR-2023
DEFINITION  tetraspanin-18 isoform X1 [Homo sapiens].
ACCESSION   XP_047283805
VERSION     XP_047283805.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427849.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..258
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..258
                     /product="tetraspanin-18 isoform X1"
                     /calculated_mol_wt=28806
     Region          20..255
                     /region_name="Tetraspannin"
                     /note="Tetraspanin family; pfam00335"
                     /db_xref="CDD:425616"
     Region          115..228
                     /region_name="uroplakin_I_like_LEL"
                     /note="Tetraspanin, extracellular domain or large
                     extracellular loop (LEL), uroplakin_I_like family.
                     Tetraspanins are trans-membrane proteins with 4
                     trans-membrane segments. Both the N- and C-termini lie on
                     the intracellular side of the membrane. This alignment...;
                     cd03156"
                     /db_xref="CDD:239409"
     Site            order(117,122,126,128..129,132,147,150..151,154..155)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:239409"
     CDS             1..258
                     /gene="TSPAN18"
                     /gene_synonym="TSPAN"
                     /coded_by="XM_047427849.1:748..1524"
                     /db_xref="GeneID:90139"
                     /db_xref="HGNC:HGNC:20660"
                     /db_xref="MIM:619399"
ORIGIN      
        1 mpeelprwst megdclscmk ylmfvfnffi flggacllai giwvmvdptg freivaanpl
       61 lltgayilla mggllfllgf lgccgavren kclllffflf iliiflaels aailafifre
      121 nltrefftke ltkhyqgnnd tdvfsatwns vmitfgccgv ngpedfkfas vfrlltldse
      181 evpeaccrre pqsrdgvlls reecllgrsl flnkqgcytv ilntfetyvy lagalaigvl
      241 aielfamifa mclfrgiq
//
LOCUS       XP_047284945             141 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP synthase F(0) complex subunit C2, mitochondrial isoform X1
            [Homo sapiens].
ACCESSION   XP_047284945
VERSION     XP_047284945.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428989.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..141
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..141
                     /product="ATP synthase F(0) complex subunit C2,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=14506
     Region          67..141
                     /region_name="ATP9"
                     /note="ATP synthase F0 subunit 9; Provisional; MTH00222"
                     /db_xref="CDD:164765"
     CDS             1..141
                     /gene="ATP5MC2"
                     /gene_synonym="ATP5A; ATP5G2"
                     /coded_by="XM_047428989.1:55..480"
                     /db_xref="GeneID:517"
                     /db_xref="HGNC:HGNC:842"
                     /db_xref="MIM:603193"
ORIGIN      
        1 mfacskfvst pslvkstsql lsrplsavvl krpeiltdes lsslavscpl tslvssrsfq
       61 tsaisrdidt aakfigagaa tvgvagsgag igtvfgslii gyarnpslkq qlfsyailgf
      121 alseamglfc lmvaflilfa m
//
LOCUS       XP_047285104            1270 aa            linear   PRI 20-MAR-2023
DEFINITION  activating transcription factor 7-interacting protein 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_047285104
VERSION     XP_047285104.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429148.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1270
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1270
                     /product="activating transcription factor 7-interacting
                     protein 1 isoform X1"
                     /calculated_mol_wt=136263
     Region          <126..252
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     Region          <193..435
                     /region_name="MDN1"
                     /note="Midasin, AAA ATPase with vWA domain, involved in
                     ribosome maturation [Translation, ribosomal structure and
                     biogenesis]; COG5271"
                     /db_xref="CDD:227596"
     Region          <319..574
                     /region_name="PTZ00341"
                     /note="Ring-infected erythrocyte surface antigen;
                     Provisional"
                     /db_xref="CDD:173534"
     Region          564..777
                     /region_name="ATF7IP_BD"
                     /note="ATF-interacting protein binding domain; pfam16788"
                     /db_xref="CDD:435582"
     Region          <822..1158
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1160..1260
                     /region_name="fn3_4"
                     /note="Fibronectin-III type domain; pfam16794"
                     /db_xref="CDD:435585"
     CDS             1..1270
                     /gene="ATF7IP"
                     /gene_synonym="AM; ATF-IP; ATF7IP1; MCAF; MCAF1; p621"
                     /coded_by="XM_047429148.1:156..3968"
                     /db_xref="GeneID:55729"
                     /db_xref="HGNC:HGNC:20092"
                     /db_xref="MIM:613644"
ORIGIN      
        1 mdsleepqkk vfkarktmrv sdrqqleavy kvkeellktd vkllngnhen gdldptsple
       61 nmdyikdkee vngieeicfd pegskaewke tpcilsvnvk nkqdddlnce plsphnitpe
      121 pvsklpaepv sgdpapgdld agdpasgvla sgdstsgdpt ssepsssdaa sgdatsgdap
      181 sgdvspgdat sgdataddls sgdptssdpi pgepvpvepi sgdcaaddia sseitsvdla
      241 sgapastdpa sddlasgdls sselasddla tgelasdelt sestfdrtfe pksvpvcepv
      301 peidniepss nkdddflekn gadekleqiq skdsldeknk adnnidanee tletddttic
      361 sdrppenekk veediitela lgedaisssm eidqgekned etsadlveti nenviednks
      421 enilentdsm etdeiipile klapsedelt cfsktsllpi detnpdleek messfgspsk
      481 qesseslpke aflvlsdeed isgekdesev isqnetcspa evesnekdnk peeeeqvihe
      541 dderpsekne fsrrkrskse dmdnvqskrr rymeeeyeae fqvkitakgd inqklqkviq
      601 wlleeklcal qcavfdktla elktrvekie cnkrhktvlt elqakiarlt krfeaakedl
      661 kkrhehppnp pvspgktvnd vnsnnnmsyr nagtvrqmle skrnvsesap psfqtpvntv
      721 sstnlvtppa vvssqpklqt pvtsgsltat svlpapntat vvattqvpsg npqptislqp
      781 lpvilhvpva vssqpqllqs hpgtlvtnqp sgnvefisvq spptvsgltk npvslpslpn
      841 ptkpnnvpsv pspsiqrnpt asaaplgttl avqavptahs ivqatrtslp tvgpsglysp
      901 stnrgpiqmk ipisafstss aaeqnsnttp rienqtnkti dasvskkaad stsqcgkatg
      961 sdssgvidlt mddeesgasq dpkklnhtpv stmsssqpvs rplqpiqpap plqpsgvpts
     1021 gpsqttihll ptapttvnvt hrpvtqvttr lpvprapanh qvvyttlpap paqaplrgtv
     1081 mqapavrqvn pqnsvtvrvp qtttyvvnng ltlgstgpql tvhhrppqvh tepprpvhpa
     1141 plpeapqpqr lppeaastsl pqkphlklar vqsqngivls wsvlevdrsc atvdsyhlya
     1201 yheepsatvp sqwkkigevk alplpmactl tqfvsgskyy favrakdiyg rfgpfcdpqs
     1261 tdvisstqss
//
LOCUS       XP_047285654            1315 aa            linear   PRI 20-MAR-2023
DEFINITION  lysine-specific demethylase 2B isoform X19 [Homo sapiens].
ACCESSION   XP_047285654
VERSION     XP_047285654.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429698.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1315
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1315
                     /product="lysine-specific demethylase 2B isoform X19"
                     /calculated_mol_wt=149919
     Region          161..236
                     /region_name="JmjC"
                     /note="A domain family that is part of the cupin
                     metalloenzyme superfamily; smart00558"
                     /db_xref="CDD:214721"
     Region          208..314
                     /region_name="cupin_RmlC-like"
                     /note="RmlC-like cupin superfamily; cl40423"
                     /db_xref="CDD:454753"
     Region          313..>348
                     /region_name="JHD"
                     /note="Jumonji helical domain; pfam17811"
                     /db_xref="CDD:436061"
     Region          486..552
                     /region_name="CTD_KDM2B"
                     /note="C-terminal domain found in Lysine-specific
                     demethylase 2B; cd21785"
                     /db_xref="CDD:412026"
     Region          <594..630
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     Region          640..701
                     /region_name="PHD_KDM2B"
                     /note="PHD finger found in Lysine-specific demethylase 2B
                     (KDM2B); cd15644"
                     /db_xref="CDD:277114"
     Site            order(640,663..667,671,696)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277114"
     Region          <699..998
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     Region          1039..1083
                     /region_name="F-box_FBXL10"
                     /note="F-box domain found in F-box/LRR-repeat protein 10
                     (FBXL10) and similar proteins; cd22180"
                     /db_xref="CDD:438951"
     Site            order(1044..1045,1047..1049,1051..1052,1054..1056,
                     1058..1059,1062..1063,1065..1067,1071)
                     /site_type="other"
                     /note="Skp1 binding site [polypeptide binding]"
                     /db_xref="CDD:438951"
     Region          1081..1105
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1097..1286
                     /region_name="AMN1"
                     /note="Antagonist of mitotic exit network protein 1;
                     cd09293"
                     /db_xref="CDD:187754"
     Region          1106..1129
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1130..1153
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1154..1193
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1194..1218
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1219..1248
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1249..1273
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1274..1298
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     CDS             1..1315
                     /gene="KDM2B"
                     /gene_synonym="CXXC2; Fbl10; FBXL10; JHDM1B; PCCX2"
                     /coded_by="XM_047429698.1:93..4040"
                     /db_xref="GeneID:84678"
                     /db_xref="HGNC:HGNC:13610"
                     /db_xref="MIM:609078"
ORIGIN      
        1 mkgnvfrsaa dckgsglavf prpidrqryd enedlsdvee ivsvrgfsle eklrsqlyqg
       61 dfvhamegkd fnyeyvqrea lrvplifrek dglgikmpdp dftvrdvkll vgsrrlvdvm
      121 dvntqkgtem smsqfvryye tpeaqrdkly nvislefsht klehlvkrpt vvdlvdwvdn
      181 mwpqhlkekq teatnaiaem kypkvkkycl msvkgcftdf hidfggtsvw yhvfrggkif
      241 wlipptlhnl alyeewvlsg kqsdiflgdr vercqrielk qgytffipsg wihavytpvd
      301 slvfggnilh sfnvpmqlri yeiedrtrvq pkfrypfyye mcwyvleryv ycvtqrshlt
      361 qeyqresmli daprkpsidg fssdswleme eeacdqqpqe eeekdeegeg rdrapkpptd
      421 gstsptstps edqealgkkp kapalrflkr tlsneseesv ksttlavdyp ktptgspate
      481 vsakwthlte felkglkalv ekleslpenk kcvpegiedp qallegvknv lkehadddps
      541 laitgvpvvt wpkktpknra vgrpkgklgp asavklaanr ttagarrrrt rcrkceaclr
      601 tecgechfck dmkkfggpgr mkqscimrqc iapvlphtav clvcgeagke dtveeeegkf
      661 nlmlmecsic neiihpgclk ikesegvvnd elpncwecpk cnhagktgkq krgpgfkyas
      721 nlpgsllkeq kmnrdnkegq epakrrsece eaprrrsdeh skkvppdgll rrksddvhlr
      781 kkrkyekpqe lsgrkrassl qtspgssshl sprpplgssl spwwrsslty fqqqlkpgke
      841 dklfrkkrrs wknaedrmal ankplrrfkq epedelpeap pktresdhsr sssptagpst
      901 egaegpeekk kvkmrrkrrl pnkelsrels kelnheiqrt enslanenqq piksepeseg
      961 eepkrppgic erphrfskgl ngtprelrhq lgpslrsppr visrpppsvs ppkciqmerh
     1021 virpppispp pdslplddga ahvmhrevwm avfsylshqd lcvcmrvcrt wnrwccdkrl
     1081 wtridlnhck sitplmlsgi irrqpvsldl swtniskkql swlinrlpgl rdlvlsgcsw
     1141 iavsalcsss cpllrtldvq wveglkdaqm rdllspptdn rpgqmdnrsk lrnivelrla
     1201 glditdaslr liirhmplls klhlsycnhv tdqsinllta vgtttrdslt einlsdcnkv
     1261 tdqclsffkr cgnichidlr yckqvtkegc eqfiaemsvs vqfgqveekl lqkls
//
LOCUS       XP_011535136             583 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and SOCS box protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_011535136
VERSION     XP_011535136.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011536834.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..583
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..583
                     /product="ankyrin repeat and SOCS box protein 2 isoform
                     X3"
                     /calculated_mol_wt=64348
     Region          107..157
                     /region_name="Ank_4"
                     /note="Ankyrin repeats (many copies); pfam13637"
                     /db_xref="CDD:372654"
     Region          108..135
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          137..183
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          161..>428
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Site            order(185,187,191..192,195..197,199..200,204,207,216,218,
                     220,224..225,228..230,232..233,237,240,249,251,253,
                     257..258,261..263,265..266,270,273,282)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          185..216
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          218..249
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          251..282
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          316..344
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          349..388
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          390..417
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          421..449
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          539..583
                     /region_name="SOCS_ASB2"
                     /note="SOCS (suppressors of cytokine signaling) box of
                     ASB2-like proteins. ASB family members have a C-terminal
                     SOCS box and an N-terminal ankyrin-related sequence. ASB2
                     targets specific proteins to destruction by the proteasome
                     in leukemia cells that have been...; cd03721"
                     /db_xref="CDD:239691"
     Site            order(540..545,551,561,567,572)
                     /site_type="other"
                     /note="putative elongin B/C interaction [polypeptide
                     binding]"
                     /db_xref="CDD:239691"
     CDS             1..583
                     /gene="ASB2"
                     /gene_synonym="ASB-2"
                     /coded_by="XM_011536834.4:211..1962"
                     /db_xref="GeneID:51676"
                     /db_xref="HGNC:HGNC:16012"
                     /db_xref="MIM:605759"
ORIGIN      
        1 matqistrgs qctigqeeys lysslsedel vqmaieqsla dktrgpttae atasactnrq
       61 pahfypwtrs tappesspar apmglfqgvm qkyssslfkt sqlapadpli kaikdgdeea
      121 lktmikegkn laepnkegwl plheaayygq vgclkvlqra cerknaeavk ilvqhnadtn
      181 hrcnrgwtal hesvsrndle vmqilvsgga kvesknaygi tplfvaaqsg qlealrflak
      241 ygadintqas dnasalyeac kneheevvef llsqgadank tnkdgllplh iaskkgnyri
      301 vqmllpvtsr trirrsgvsp lhlaaernhd evleallsar fdvntplape rarlyedrrs
      361 salyfavvnn nvyatelllq hgadpnrdvi spllvairhg clrtmqllld hganidayia
      421 thptafpati mfamkclsll kflmdlgcdg epcfsclygn gphppapqps srfndapaad
      481 kepsvvqfce fvsapevsrw agpiidvlld yvgnvqlcsr lkehidsfed wavikekaep
      541 prplahlcrl rvrkaigkyr iklldtlplp grlirylkye ntq
//
LOCUS       XP_047287716             471 aa            linear   PRI 20-MAR-2023
DEFINITION  tryptophan--tRNA ligase, cytoplasmic isoform X1 [Homo sapiens].
ACCESSION   XP_047287716
VERSION     XP_047287716.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431760.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..471
                     /product="tryptophan--tRNA ligase, cytoplasmic isoform X1"
                     /calculated_mol_wt=53035
     Region          12..64
                     /region_name="WHEP-TRS"
                     /note="WHEP-TRS domain; pfam00458"
                     /db_xref="CDD:425693"
     Site            order(19,21,24,29,34,38,46,54)
                     /site_type="other"
                     /note="tRNA binding site [nucleotide binding]"
                     /db_xref="CDD:238473"
     Region          85..466
                     /region_name="PLN02486"
                     /note="aminoacyl-tRNA ligase"
                     /db_xref="CDD:178104"
     Site            order(159..163,170,172..173,176,194,199,237,280,284,287,
                     307,309..310,312..313,316,339,349..350,352)
                     /site_type="active"
                     /db_xref="CDD:173903"
     Site            170..173
                     /site_type="other"
                     /note="HIGH motif"
                     /db_xref="CDD:173903"
     Site            order(198,201..202,247..248,250..252,255..256,258..261,
                     263..264,276,278..279,282..283)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:173903"
     Site            349..353
                     /site_type="other"
                     /note="KMSKS motif"
                     /db_xref="CDD:173903"
     CDS             1..471
                     /gene="WARS1"
                     /gene_synonym="GAMMA-2; HMN9; IFI53; IFP53; WARS"
                     /coded_by="XM_047431760.1:248..1663"
                     /db_xref="GeneID:7453"
                     /db_xref="HGNC:HGNC:12729"
                     /db_xref="MIM:191050"
ORIGIN      
        1 mpnsepasll elfnsiatqg elvrslkagn askdeidsav kmlvslkmsy kaaagedyka
       61 dcppgnpapt snhgpdatea eedfvdpwtv qtssakgidy dklivrfgss kidkelinri
      121 eratgqrphh flrrgiffsh rdmnqvlday enkkpfylyt grgpsseamh vghlipfift
      181 kwlqdvfnvp lviqmtddek ylwkdltldq aysyavenak diiacgfdin ktfifsdldy
      241 mgmssgfykn vvkiqkhvtf nqvkgifgft dsdcigkisf paiqaapsfs nsfpqifrdr
      301 tdiqclipca idqdpyfrmt rdvaprigyp kpallhstff palqgaqtkm sasdpnssif
      361 ltdtakqikt kvnkhafsgg rdtieehrqf ggncdvdvsf myltffledd dkleqirkdy
      421 tsgamltgel kkalievlqp liaehqarrk evtdeivkef mtprklsfdf q
//
LOCUS       XP_047288385             316 aa            linear   PRI 20-MAR-2023
DEFINITION  isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial isoform
            X1 [Homo sapiens].
ACCESSION   XP_047288385
VERSION     XP_047288385.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432429.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..316
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..316
                     /product="isocitrate dehydrogenase [NAD] subunit alpha,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=34375
     Region          1..312
                     /region_name="Iso_dh"
                     /note="Isocitrate/isopropylmalate dehydrogenase; cl00445"
                     /db_xref="CDD:444908"
     CDS             1..316
                     /gene="IDH3A"
                     /gene_synonym="RP90"
                     /coded_by="XM_047432429.1:960..1910"
                     /db_xref="GeneID:3419"
                     /db_xref="HGNC:HGNC:5384"
                     /db_xref="MIM:601149"
ORIGIN      
        1 mkifdaakap iqweernvta iqgpggkwmi pseakesmdk nkmglkgplk tpiaaghpsm
       61 nlllrktfdl yanvrpcvsi egyktpytdv nivtirente geysgiehvi vdgvvqsikl
      121 itegaskria efafeyarnn hrsnvtavhk animrmsdgl flqkcrevae sckdikfnem
      181 yldtvclnmv qdpsqfdvlv mpnlygdils dlcagliggl gvtpsgniga ngvaifesvh
      241 gtapdiagkd manptallls avmmlrhmgl fdhaarieaa cfatikdgks ltkdlggnak
      301 csdfteeicr rvkdld
//
LOCUS       XP_011520297             875 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin-protein ligase E3A isoform X1 [Homo sapiens].
ACCESSION   XP_011520297
VERSION     XP_011520297.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521995.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..875
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..875
                     /product="ubiquitin-protein ligase E3A isoform X1"
                     /calculated_mol_wt=100557
     Region          29..83
                     /region_name="AZUL"
                     /note="Amino-terminal Zinc-binding domain of ubiquitin
                     ligase E3A; pfam16558"
                     /db_xref="CDD:435428"
     Region          523..873
                     /region_name="HECTc"
                     /note="HECT domain; C-terminal catalytic domain of a
                     subclass of Ubiquitin-protein ligase (E3). It binds
                     specific ubiquitin-conjugating enzymes (E2), accepts
                     ubiquitin from E2, transfers ubiquitin to substrate lysine
                     side chains, and transfers additional...; cd00078"
                     /db_xref="CDD:238033"
     Site            order(529,562,573,630,808,837..838,841..845,865,872)
                     /site_type="active"
                     /note="catalytic cleft [active]"
                     /db_xref="CDD:238033"
     Site            order(658,661..662,664..665,668,676,678,682..683,685,691,
                     696,713,717)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..875
                     /gene="UBE3A"
                     /gene_synonym="ANCR; AS; E6-AP; EPVE6AP; HPVE6A; PIX1"
                     /coded_by="XM_011521995.4:626..3253"
                     /db_xref="GeneID:7337"
                     /db_xref="HGNC:HGNC:12496"
                     /db_xref="MIM:601623"
ORIGIN      
        1 meklhqcywk sgepqsddie asrmkraaak hlieryyhql tegcgneact nefcascptf
       61 lrmdnnaaai kalelykina klcdphpskk gassaylens kgapnnscse ikmnkkgari
      121 dfkdvtylte ekvyeilelc reredyspli rvigrvfssa ealvqsfrkv kqhtkeelks
      181 lqakdedkde dekekaacsa aameedseas ssrigdssqg dnnlqklgpd dvsvdidair
      241 rvytrllsne kietaflnal vylspnvecd ltyhnvysrd pnylnlfiiv menrnlhspe
      301 ylemalplfc kamsklplaa qgklirlwsk ynadqirrmm etfqqlityk visnefnsrn
      361 lvndddaiva askclkmvyy anvvggevdt nhneeddeep ipesseltlq ellgeerrnk
      421 kgprvdplet elgvktldcr kplipfeefi neplnevlem dkdytffkve tenkfsfmtc
      481 pfilnavtkn lglyydnrir myserritvl yslvqgqqln pylrlkvrrd hiiddalvrl
      541 emiamenpad lkkqlyvefe geqgvdeggv skeffqlvve eifnpdigmf tydestklfw
      601 fnpssfeteg qftligivlg laiynncild vhfpmvvyrk lmgkkgtfrd lgdshpvlyq
      661 slkdlleyeg nveddmmitf qisqtdlfgn pmmydlkeng dkipitnenr kefvnlysdy
      721 ilnksvekqf kafrrgfhmv tnesplkylf rpeeiellic gsrnldfqal eetteydggy
      781 trdsvliref weivhsftde qkrlflqftt gtdrapvggl gklkmiiakn gpdterlpts
      841 htcfnvlllp eysskeklke rllkaityak gfgml
//
LOCUS       XP_011520786            1229 aa            linear   PRI 20-MAR-2023
DEFINITION  MHC class II transactivator isoform X1 [Homo sapiens].
ACCESSION   XP_011520786
VERSION     XP_011520786.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011522484.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1229
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..1229
                     /product="MHC class II transactivator isoform X1"
                     /calculated_mol_wt=134152
     Region          513..682
                     /region_name="NACHT"
                     /note="NACHT domain; pfam05729"
                     /db_xref="CDD:428606"
     Region          812..917
                     /region_name="NLRC4_HD2"
                     /note="NLRC4 helical domain HD2; pfam17776"
                     /db_xref="CDD:436035"
     Region          888..1213
                     /region_name="LRR_RI"
                     /note="Leucine-rich repeats (LRRs), ribonuclease inhibitor
                     (RI)-like subfamily. LRRs are 20-29 residue sequence
                     motifs present in many proteins that participate in
                     protein-protein interactions and have different functions
                     and cellular locations. LRRs correspond...; cd00116"
                     /db_xref="CDD:238064"
     Site            order(890,892,895,897,912,918,920,923,925,943,946,948,951,
                     953,978,981,983,986,988,1001,1004,1006,1009,1011,1030,
                     1033,1035,1038,1040,1056,1059,1061,1064,1066,1085,1088,
                     1090,1096,1098,1116,1119,1121,1124,1126,1145,1148,1150,
                     1153,1155,1173,1176,1178,1181,1183,1203,1206,1208,1211,
                     1213)
                     /site_type="active"
                     /note="Leucine-rich repeats [active]"
                     /db_xref="CDD:238064"
     Site            order(921..922,985,1037,1063,1123,1149,1151,1177,1207)
                     /site_type="other"
                     /note="Substrate binding site [chemical binding]"
                     /db_xref="CDD:238064"
     Region          1085..1112
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1116..1154
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1170..1200
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     CDS             1..1229
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /coded_by="XM_011522484.4:22..3711"
                     /db_xref="GeneID:4261"
                     /db_xref="HGNC:HGNC:7067"
                     /db_xref="MIM:600005"
ORIGIN      
        1 mlgerrfqal araaaltpra amnnfqailt qvrmllsshq pslvqalldn llkedllsre
       61 yhctllhepd sealarkisl tllekgdldl allgwarsgl qppaaergpg hsdhggssqc
      121 atmelgpleg gylellnsda dplclyhfyd qmdlageeei elysepdtdt incdqfsrll
      181 cdmegdeetr eayaniaeld qyvfqdsqle glskdifieh igpdeviges mempaevgqk
      241 sqkrpfpeel padlkhwkpa epptvvtgsl lvgpvsdcst lpclplpalf nqepasgqmr
      301 lektdqipmp fsssslscln lpegpiqfvp tistlphglw qiseagtgvs sifiyhgevp
      361 qasqvpppsg ftvhglptsp drpgstspfa psatdlpsmp epaltsranm tehktsptqc
      421 paagevsnkl pkwpepveqf yrslqdtyga epagpdgilv evdlvqarle rssskslere
      481 latpdwaerq laqgglaevl laakehrrpr etrviavlgk agqgksywag avsrawacgr
      541 lpqydfvfsv pchclnrpgd ayglqdllfs lgpqplvaad evfshilkrp drvllildgf
      601 eeleaqdgfl hstcgpapae pcslrgllag lfqkkllrgc tllltarprg rlvqslskad
      661 alfelsgfsm eqaqayvmry fessgmtehq draltllrdr plllshshsp tlcravcqls
      721 eallelgeda klpstltgly vgllgraald sppgalaela klawelgrrh qstlqedqfp
      781 sadvrtwama kglvqhppra aeselafpsf llqcflgalw lalsgeikdk elpqylaltp
      841 rkkrpydnwl egvprflagl ifqpparclg allgpsaaas vdrkqkvlar ylkrlqpgtl
      901 rarqllellh caheaeeagi wqhvvqelpg rlsflgtrlt ppdahvlgka leaagqdfsl
      961 dlrstgicps glgslvglsc vtrfraalsd tvalweslqq hgetkllqaa eekftiepfk
     1021 akslkdvedl gklvqtqrtr sssedtagel pavrdlkkle falgpvsgpq afpklvrilt
     1081 afsslqhldl dalsenkigd egvsqlsatf pqlksletln lsqnnitdlg ayklaealps
     1141 laasllrlsl ynncicdvga eslarvlpdm vslrvmdvqy nkftaagaqq laaslrrcph
     1201 vetlamwtpt ipfsvqehlq qqdsrislr
//
LOCUS       XP_011523398             404 aa            linear   PRI 20-MAR-2023
DEFINITION  retinoic acid receptor alpha isoform X3 [Homo sapiens].
ACCESSION   XP_011523398
VERSION     XP_011523398.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011525096.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..404
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..404
                     /product="retinoic acid receptor alpha isoform X3"
                     /calculated_mol_wt=44828
     Region          24..108
                     /region_name="NR_DBD_RAR"
                     /note="DNA-binding domain of retinoic acid receptor (RAR)
                     is composed of two C4-type zinc fingers; cd06964"
                     /db_xref="CDD:143522"
     Site            order(30,33,47,50,66,72,82,85)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143522"
     Site            order(40..42,48..49,51,53,55..56,59,79..80,83,86,99..101)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143522"
     Site            order(77,80..83)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:143522"
     Region          128..358
                     /region_name="NR_LBD_RAR"
                     /note="The ligand binding domain (LBD) of retinoic acid
                     receptor (RAR), a members of the nuclear receptor
                     superfamily; cd06937"
                     /db_xref="CDD:132735"
     Site            order(170,173..174,177,208,211..212,215,218,228..229,244,
                     336..337,340,356)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:132735"
     Site            order(182,186,196,199..200,203..204,350..351,354..355)
                     /site_type="other"
                     /note="coactivator recognition site [polypeptide binding]"
                     /db_xref="CDD:132735"
     Site            order(257,279..280,291,294..295,298..299,302,306,317..318,
                     320..321,324,327..328)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:132735"
     CDS             1..404
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /coded_by="XM_011525096.2:2745..3959"
                     /db_xref="GeneID:5914"
                     /db_xref="HGNC:HGNC:9864"
                     /db_xref="MIM:180240"
ORIGIN      
        1 mpietqssss eeivpsppsp pplpriykpc fvcqdkssgy hygvsacegc kgffrrsiqk
       61 nmvytchrdk nciinkvtrn rcqycrlqkc fevgmskesv rndrnkkkke vpkpecsesy
      121 tltpevgeli ekvrkahqet fpalcqlgky ttnnsseqrv sldidlwdkf selstkciik
      181 tvefakqlpg fttltiadqi tllkaacldi lilrictryt peqdtmtfsd gltlnrtqmh
      241 nagfgpltdl vfafanqllp lemddaetgl lsaiclicgd rqdleqpdrv dmlqepllea
      301 lkvyvrkrrp srphmfpkml mkitdlrsis akgaervitl kmeipgsmpp liqemlense
      361 gldtlsgqpg gggrdgggla pppgscspsl spssnrsspa thsp
//
LOCUS       XP_016881182            2146 aa            linear   PRI 20-MAR-2023
DEFINITION  rotatin isoform X3 [Homo sapiens].
ACCESSION   XP_016881182
VERSION     XP_016881182.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017025693.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2146
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..2146
                     /product="rotatin isoform X3"
                     /calculated_mol_wt=239732
     Region          16..112
                     /region_name="RTTN_N"
                     /note="Rotatin, an armadillo repeat protein, centriole
                     functioning; pfam14726"
                     /db_xref="CDD:434161"
     CDS             1..2146
                     /gene="RTTN"
                     /gene_synonym="MSSP"
                     /coded_by="XM_017025693.2:30..6470"
                     /db_xref="GeneID:25914"
                     /db_xref="HGNC:HGNC:18654"
                     /db_xref="MIM:610436"
ORIGIN      
        1 mvlaglirkl ghqlaeirer alksilckie hnlicyadli qerqlflhll ewfnfpsvpm
       61 keevlnllsr lvkyppavqh lvdvgavefl sklrsnvepn lqaeidgild glfllpsevp
      121 alssasyqtn qtelsknpei ltgyfpqdks nfqqmevppr pvvnqtvkcl kfstfpwlpl
      181 tttdrhvlss nesslrssnh tliwntcell kdvimqdfpa eiflqrpkiv qsllsllkla
      241 fgdgkhrlal qsvsclqqlc mylrnrlnfh rdpgffsnkh dtvsqnssls ycheargthh
      301 sqnpspgsss prpsvvgrtg qrprgdgqdw daasssgsss hahvnsrisv hspldmghid
      361 lpeletedtl elqfqqlslp qfcvsilesa vpllrtgsrq viirvlellt edmtligeai
      421 stdiwddssl fgidmkekll lvlgalgetm cyhkssisle qpevmlvhhr mafisislfa
      481 vrllqtllpv ekaseflsep mstalfllsl dmpisleypn iheavvayle qlnsenysiy
      541 krtaeavysi ectcnflsdi gkegeknlle lveladqalr sfsyhqhfpl ikeiisicsk
      601 iwksaqaspl lqgesqkvll hmlshplprv kaetyhccle itkeclgvhn vtkpvsslcn
      661 gihfllhpkv lyeisvfgiq epesevntaa kaillyllqg rlmmtaltwn kfieslcpvi
      721 pilqgyadte dplgncilll skassdteem lpcttrlksm lrlllvkkps vrslalklla
      781 fhltseegad tkrplidarv lsrvtdlfig kkpielrldd rrelviklet vekvyeifts
      841 ddvdlvlrks aaeqlavimq dikmhavvkk lclidkiiey lnecvsqdgk vveclvqpcl
      901 tllrkvlcgd pvmrvslsqq sslltvlfrv slifhedcsv vtevgalfcl llfdevsrmd
      961 mwsvnpsnkp slpsvfslpv svfrryhlpv hvighhavsp ysivlplsad clalkpvsdm
     1021 lriawnlswy hgsdnllkqm nsetktqefl qvlpactede kllidiihfl nklikeqrkn
     1081 sslellnwil elllrhsanp lldllvltes qareetddir tavrqqlqke lialfdtlll
     1141 nfmevtdrkc sellyvfqtq lalkllqclk vtdaphfygl pslertlrgm anltafpgws
     1201 shspltkpld icvkylsgll evitsfyver ggnamsfmgk gvtkstilcl lhlshemmaq
     1261 agslewmslw flplgshsee hiptqqglaw liplwvdrdp evrftslglg salttletgc
     1321 valanscqni sgglwgtvvn illdqsecsm vrreaafilq nllvipmpte iikdytwqgp
     1381 cvhdedsgls ligkpalqal lyhchfyehl nqmvkhcylg rcmfdlnfsa fdrnsesndl
     1441 nglddsfkfw rapsrtsqdr dpsslstset tvapslgste fqplvqsttl lpeashdqfv
     1501 aqghqestsp rpphdsslsa plpklcvfvt psllsamcsl ldnlltiapr dtakafrqah
     1561 liellcsiad atliqtcvqe lrallpsspp aehtqaqvsf lleylsslsr llqscllvep
     1621 dlviqdelvk plitniigil tictkdvldk elisafyhtw thlfnllaml lrkagaitlp
     1681 fvtvalakhw taaidmfctc aglsatcpal ytaslqflsv llteeakghl qakskthlcc
     1741 sptvaslldd sqenqksleq lsdvilqcye gksskdilkr vaanalmsll avsrraqkha
     1801 lkanlidncm eqmkhinaql nldslrpgka alkkkedgvi kelsiamqll rnclyqneec
     1861 keaaleahlv pvlhslwpwi lmddslmqis lqllcvytan fpngcsslcw sscgqhpvqa
     1921 thrgavsnsl mlcilklasq mplenttvqq mvfmllsnla lshdckgviq ksnflqnfls
     1981 lalpkggnkh lsnltilwlk lllnissged gqqmilrldg cldlltemsk ykhksspllp
     2041 llifhnvcfs pankpkilan ekvitvlaac lesenqnaqr igaaalwali ynyqkaktal
     2101 kspsvkrrvd eayslakktf pnseanplna yylkclenlv qllnss
//
LOCUS       XP_047298784             506 aa            linear   PRI 20-MAR-2023
DEFINITION  abl interactor 2 isoform X6 [Homo sapiens].
ACCESSION   XP_047298784
VERSION     XP_047298784.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442828.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..506
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..506
                     /product="abl interactor 2 isoform X6"
                     /calculated_mol_wt=54620
     Region          93..156
                     /region_name="Abi_HHR"
                     /note="Abl-interactor HHR; pfam07815"
                     /db_xref="CDD:429677"
     Region          <263..390
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          445..505
                     /region_name="SH3_Abi2"
                     /note="Src homology 3 domain of Abl Interactor 2; cd11972"
                     /db_xref="CDD:212905"
     Site            order(453,455,458,462,480..481,494,496..497)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212905"
     CDS             1..506
                     /gene="ABI2"
                     /gene_synonym="ABI-2; ABI2B; AblBP3; AIP-1; AIP1; argBP1;
                     argBPIA; argBPIB; SSH3BP2"
                     /coded_by="XM_047442828.1:122..1642"
                     /db_xref="GeneID:10152"
                     /db_xref="HGNC:HGNC:24011"
                     /db_xref="MIM:606442"
ORIGIN      
        1 maelqmllee eipggrralf dsytnlerva dycennyiqs adkqraleet kayttqslas
       61 vaylintlan nvlqmldiqa sqlrrmessi nhisqtvdih kekvarreig ilttnkntsr
      121 thkiiapanl erpvryirkp idytilddig hgvkvstqnm kmgglprttp ptqkppsppm
      181 sgkgtlgrhs pyrtlepvrp pvvpndyvps ptrnmapsqq spvrtasvnq rnrtyssgss
      241 ggshpssrss srensgsgsv gvpiavptps ppsvfpapag sagtpplpat sasapaplvp
      301 atvpsstapd aaaggaqtla dgftsptppv vsstpptghp vqfysmnrpa srhtpptigg
      361 slpyrrppsi tsqtslqnqm nggpfysqnp vsdtpppppp veepvfdesp ppppppedye
      421 eeeaavveys dpyaeedppw aprsylekvv aiydytkdke delsfqegai iyvikknddg
      481 wyegvmngvt glfpgnyves imhyse
//
LOCUS       XP_047300367            1156 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-Ib isoform X1 [Homo sapiens].
ACCESSION   XP_047300367
VERSION     XP_047300367.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444411.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1156
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1156
                     /product="unconventional myosin-Ib isoform X1"
                     /calculated_mol_wt=134217
     Region          49..708
                     /region_name="MYSc_Myo1"
                     /note="class I myosin, motor domain; cd01378"
                     /db_xref="CDD:276829"
     Site            order(76..79,84,128..135,175..185,407..412)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276829"
     Site            order(76..79,84)
                     /site_type="other"
                     /note="purine-binding loop"
                     /db_xref="CDD:276829"
     Site            128..135
                     /site_type="other"
                     /note="P-loop"
                     /db_xref="CDD:276829"
     Site            175..185
                     /site_type="other"
                     /note="switch I region"
                     /db_xref="CDD:276829"
     Site            407..412
                     /site_type="other"
                     /note="switch II region"
                     /db_xref="CDD:276829"
     Site            order(436..447,450..457,459)
                     /site_type="other"
                     /note="relay loop"
                     /db_xref="CDD:276829"
     Site            640..650
                     /site_type="other"
                     /note="SH1 helix"
                     /db_xref="CDD:276829"
     Site            order(652..678,695..708)
                     /site_type="other"
                     /note="converter subdomain"
                     /db_xref="CDD:276829"
     Region          769..791
                     /region_name="IQ"
                     /note="Calmodulin-binding motif; smart00015"
                     /db_xref="CDD:197470"
     Region          961..1138
                     /region_name="Myosin_TH1"
                     /note="Unconventional myosin tail, actin- and
                     lipid-binding; pfam06017"
                     /db_xref="CDD:428724"
     CDS             1..1156
                     /gene="MYO1B"
                     /gene_synonym="MMI-alpha; MMIa; MYH-1c; myr1"
                     /coded_by="XM_047444411.1:144..3614"
                     /db_xref="GeneID:4430"
                     /db_xref="HGNC:HGNC:7596"
                     /db_xref="MIM:606537"
ORIGIN      
        1 mqskeerlts wgrrgselet makmevktsl ldnmigvgdm vlleplneet finnlkkrfd
       61 hseiytyigs vvisvnpyrs lpiyspekve eyrnrnfyel sphifalsde ayrslrdqdk
      121 dqcilitges gagkteaskl vmsyvaavcg kgaevnqvke qllqsnpvle afgnaktvrn
      181 dnssrfgkym diefdfkgdp lggvisnyll eksrvvkqpr gernfhvfyq llsgaseell
      241 nklklerdfs rynylsldsa kvngvddaan frtvrnamqi vgfmdheaes vlavvaavlk
      301 lgniefkpes rvngldeski kdknelkeic eltgidqsvl erafsfrtve akqekvsttl
      361 nvaqayyard alaknlysrl fswlvnrine sikaqtkvrk kvmgvldiyg feifednsfe
      421 qfiinycnek lqqifieltl keeqeeyire diewthidyf nnaiicdlie nntngilaml
      481 deeclrpgtv tdetflekln qvcathqhfe srmskcsrfl ndtslphscf riqhyagkvl
      541 yqvegfvdkn ndllyrdlsq amwkashali kslfpegnpa kinlkrppta gsqfkasvat
      601 lmknlqtknp nyircikpnd kkaahifnea lvchqirylg llenvrvrra gyafrqayep
      661 clerykmlck qtwphwkgpa rsgvevlfne leipveeysf grskifirnp rtlfkledlr
      721 kqrledlatl iqkiyrgwkc rthfllmkks qiviaawyrr yaqqkryqqt kssalviqsy
      781 irgwkarkil relkhqkrck eavttiaayw hgtqarrelr rlkeearnkh aiaviwaywl
      841 gskarrelkr lkeearrkha vaviwaywlg lkvrreyrkf franagkkiy eftlqrivqk
      901 yflemknkmp slspidknwp srpylfldst hkelkrifhl wrckkyrdqf tdqqkliyee
      961 kleaselfkd kkalypssvg qpfqgaylei nknpkykklk daieekiiia evvnkinran
     1021 gkstsrifll tnnnllladq ksgqiksevp lvdvtkvsms sqndgffavh lkegseaask
     1081 gdflfssdhl iematklyrt tlsqtkqkln ieisdeflvq frqdkvcvkf iqgnqkngsv
     1141 ptckrknnrl levavp
//
LOCUS       XP_047300797             366 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial isoform X5
            [Homo sapiens].
ACCESSION   XP_047300797
VERSION     XP_047300797.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444841.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..366
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..366
                     /product="tRNA (adenine(58)-N(1))-methyltransferase,
                     mitochondrial isoform X5"
                     /calculated_mol_wt=40269
     Region          150..>360
                     /region_name="Gcd14"
                     /note="tRNA A58 N-methylase Trm61 [Translation, ribosomal
                     structure and biogenesis]; COG2519"
                     /db_xref="CDD:225317"
     CDS             1..366
                     /gene="TRMT61B"
                     /coded_by="XM_047444841.1:33..1133"
                     /db_xref="GeneID:55006"
                     /db_xref="HGNC:HGNC:26070"
                     /db_xref="MIM:619404"
ORIGIN      
        1 mlmawcrgpv llclrqglgt nsflhglgqe pfegarslcc rssprdlrdg ereheaaqrk
       61 apgaescpsl plsisdigtg clsslenlrl ptlreesspr eledssgdqg rcgpthqgse
      121 dpsmlsqaqs ateveerhvs pscstsrerp fqagelilae tgegetkfkk lfrlnnfgll
      181 nsnwgavpfg kivgkfpgqi lrssfgkqym lrrpaledyv vlmkrgtait fpkdinmils
      241 mmdinpgdtv leagsgsggm slflskavgs qgrvisfevr kdhhdlakkn ykhwrdswkl
      301 shveewpdnv dfihkdisga tediksltfd avaldmlnph vtlpvfyphl khggvcavyv
      361 vkriaf
//
LOCUS       XP_047302271             824 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat flightless-interacting protein 1 isoform X23
            [Homo sapiens].
ACCESSION   XP_047302271
VERSION     XP_047302271.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446315.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..824
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..824
                     /product="leucine-rich repeat flightless-interacting
                     protein 1 isoform X23"
                     /calculated_mol_wt=91330
     Region          52..288
                     /region_name="LRRFIP"
                     /note="LRRFIP family; pfam09738"
                     /db_xref="CDD:430789"
     Region          <491..750
                     /region_name="2A1904"
                     /note="K+-dependent Na+/Ca+ exchanger; TIGR00927"
                     /db_xref="CDD:273344"
     CDS             1..824
                     /gene="LRRFIP1"
                     /gene_synonym="FLAP-1; FLAP1; FLIIAP1; GCF-2; GCF2;
                     HUFI-1; TRIP"
                     /coded_by="XM_047446315.1:59..2533"
                     /db_xref="GeneID:9208"
                     /db_xref="HGNC:HGNC:6702"
                     /db_xref="MIM:603256"
ORIGIN      
        1 mdmgtqgsgr krlpnrerlt aeddalnqia reaearlaak raaraearei rmkelerqqk
       61 eveerpekdf tekgsrnmpg lsaatlaslg gtssrrgsgd tsisidteas ireikdslae
      121 veekykkamv snaqldnekt nfmyqvdtlk dmlleleeql aesrrqyeek nkeferekha
      181 hsilqfqfae vkealkqree mleeirqlqq kqassireis dlqetiewkd kkigalerqk
      241 effdsvrser ddlreevvml keelkkhgii lnseiatnge tsdtlnnvgy qgptkmtkee
      301 lnalkstgdg tlgrasevev kneivanvgk reilhnteke qhtedtvkdc vdievfpage
      361 ntedqkssed tapflgtlag atyeeqvqsq ilessslpen tvqvesnevm gapddrtrtp
      421 lepsncwsdl dggnhtenvg eaavtqveeq agtvascplg hsddtvyhdd kcmvevpqel
      481 etstghslek eftnqeaaep kevpahstev grdhneeege etglrdekpi ktevpgspag
      541 tegncqeatg pstvdtqnep ldmkepdeek sdqqgealds sqkktknkkk knkkkkspvp
      601 vetlkdvkke ltyqntdlse ikeeeqvkst drksaveaqn evtenpkqki aaessenvdc
      661 penpkikldg kldqegddvq taaeevladg dtldfeddtv qssgpragge eldegvakdn
      721 akidgatqss paepksedad rctlpehesp sqdisdacea estercemse hpsqtvrkal
      781 dsnslenddl sapgrepghf npesredtrg gnekgksked ctms
//
LOCUS       XP_024309360             638 aa            linear   PRI 20-MAR-2023
DEFINITION  PEX5-related protein isoform X3 [Homo sapiens].
ACCESSION   XP_024309360
VERSION     XP_024309360.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453592.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..638
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..638
                     /product="PEX5-related protein isoform X3"
                     /calculated_mol_wt=70884
     Site            order(342..343,346..347,349,373,376..377,380..381,
                     383..384,407,410..411,414..415,418)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          342..366
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          343..>573
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     Region          371..401
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          406..434
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          486..514
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(487,490..491,494..495,497,521,524..525,528..529,
                     531..532,555,558..559,562..563,566)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          519..549
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          554..582
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..638
                     /gene="PEX5L"
                     /gene_synonym="PEX5R; PEX5RP; PXR2; PXR2B; TRIP8b"
                     /coded_by="XM_024453592.2:189..2105"
                     /db_xref="GeneID:51555"
                     /db_xref="HGNC:HGNC:30024"
                     /db_xref="MIM:611058"
ORIGIN      
        1 mlaleissks vvlwsassgk eatasgikns gmsdsemdgr thipsllnal lsrnrvmqms
       61 ylkskeqgyg klssdedlei ivdqkqvvgv tlkkkwhclq ksdltlalgk gsraadkava
      121 mvmkeipree saeekplltm tsqlvneqqe srpllspsid dflcetksea iarpvtsnta
      181 diqtqlekwd dvkfhgdrnt kghpmaerks sssrtgskel lwssehrsqp elsggksaln
      241 sesaselelv aptqarltke hrwgsallsr nhsleeefer akaavesdte fwdkmqaewe
      301 emarrnwise nqeaqnqvti sasekgyyfh tenpfkdwpg afeeglkrlk egdlpvtilf
      361 meaailqdpg daeawqflgi tqaeneneqa aivalqrcle lqpnnlkalm alavsytntg
      421 hqqdacdalk nwikqnpkyk ylvkskkgsp gltrrmsksp vdssvlegvk elyleaahqn
      481 gdmidpdlqt glgvlfhlsg efnraidafn aaltvrpedy slwnrlgatl angdrseeav
      541 eaytraleiq pgfirsrynl giscinlgay reavsnflta lslqrksrnq qqvphpaisg
      601 niwaalrial slmdqpelfq aanlgdldvl lrafnldp
//
LOCUS       XP_047304664             545 aa            linear   PRI 20-MAR-2023
DEFINITION  rabenosyn-5 isoform X4 [Homo sapiens].
ACCESSION   XP_047304664
VERSION     XP_047304664.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448708.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..545
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..545
                     /product="rabenosyn-5 isoform X4"
                     /calculated_mol_wt=60930
     Region          222..260
                     /region_name="Rbsn"
                     /note="Rabenosyn Rab binding domain; pfam11464"
                     /db_xref="CDD:431898"
     Region          309..488
                     /region_name="NPF"
                     /note="Rabosyn-5 repeating NPF sequence-motif; pfam16601"
                     /db_xref="CDD:406900"
     Region          502..540
                     /region_name="Rbsn"
                     /note="Rabenosyn Rab binding domain; pfam11464"
                     /db_xref="CDD:431898"
     CDS             1..545
                     /gene="RBSN"
                     /gene_synonym="Rabenosyn-5; ZFYVE20"
                     /coded_by="XM_047448708.1:176..1813"
                     /db_xref="GeneID:64145"
                     /db_xref="HGNC:HGNC:20759"
                     /db_xref="MIM:609511"
ORIGIN      
        1 mslsvqtvgi ssasgtaatt aasagllcar svwsssafpw qklrlcmekv dqkapeyirm
       61 aaslnagett yslehasdlr vevqkvyeli dalskkiltl glnqdppphp snlrlqrmir
      121 ysatlfvqek llglmslptk eqfeelkkkr keemerkrav erqaalesqr rleerqsgla
      181 sraangevas lrrgpaplrk aegwlplsgg qgqsedsdpl lqqihnitsf irqakaagrm
      241 devrtlqenl rqlqdeydqq qtekaielsr rqaeeedlqr eqlqmlrere lerereqfrv
      301 aslhtrtrsl dfreigpfql epsreprthl ayaldlgssp vpsstapktp slsstqptrv
      361 wsgppavgqe rlpqssmpqq hegpslnpfd eedlsspmee attgppaagv sldpsarilk
      421 eynpfeeede eeeavagnpf iqpdspapnp fseedehpqq rlssplvpgn pfeeptcinp
      481 femdsdsgpe aeepieeell lqqidnikay ifdakqcgrl devevltenl relkhtlakq
      541 kggtd
//
LOCUS       XP_047304751             461 aa            linear   PRI 20-MAR-2023
DEFINITION  thyroid hormone receptor beta isoform X1 [Homo sapiens].
ACCESSION   XP_047304751
VERSION     XP_047304751.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448795.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..461
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..461
                     /product="thyroid hormone receptor beta isoform X1"
                     /calculated_mol_wt=52657
     Region          106..192
                     /region_name="NR_DBD_TR"
                     /note="DNA-binding domain of thyroid hormone receptors
                     (TRs) is composed of two C4-type zinc fingers; cd06961"
                     /db_xref="CDD:143519"
     Site            order(107,110,124,127,145,151,161,164)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143519"
     Site            order(117..119,125..126,128,130,132..133,136,158..159,162,
                     165,178..180,185,188..189,191..192)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143519"
     Site            order(117,120,175,177..178)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:143519"
     Region          216..458
                     /region_name="NR_LBD_TR"
                     /note="The ligand binding domain of thyroid hormone
                     receptor, a members of a superfamily of nuclear receptors;
                     cd06935"
                     /db_xref="CDD:132733"
     Site            order(269,272..273,275..276,279,282,310,313,317,329..331,
                     341,344,346,353,435,442,455)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:132733"
     Site            order(281,284,288,298,302,305,453..454,457)
                     /site_type="other"
                     /note="coactivator recognition site [polypeptide binding]"
                     /db_xref="CDD:132733"
     Site            order(348,393,423,426..427,430,433..434,436..437)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:132733"
     CDS             1..461
                     /gene="THRB"
                     /gene_synonym="C-ERBA-2; C-ERBA-BETA; ERBA2; GRTH; NR1A2;
                     PRTH; THR1; THRB1; THRB2; THRbeta; THRbeta1; Thrbeta2;
                     TRb; TRbeta; TRbeta1"
                     /coded_by="XM_047448795.1:512..1897"
                     /db_xref="GeneID:7068"
                     /db_xref="HGNC:HGNC:11799"
                     /db_xref="MIM:190160"
ORIGIN      
        1 mtpnsmteng ltawdkpkhc pdrehdwklv gmseaclhrk shserrstlk neqssphliq
       61 ttwtssifhl dhddvndqsv ssaqtfqtee kkckgyipsy ldkdelcvvc gdkatgyhyr
      121 citcegckgf frrtiqknlh psysckyegk cvidkvtrnq cqecrfkkci yvgmatdlvl
      181 ddskrlakrk lieenrekrr reelqksigh kpeptdeewe liktvteahv atnaqgshwk
      241 qkrkflpedi gqapivnape ggkvdleafs hftkiitpai trvvdfakkl pmfcelpced
      301 qiillkgccm eimslraavr ydpesetltl ngemavtrgq lkngglgvvs daifdlgmsl
      361 ssfnlddtev allqavllms sdrpglacve riekyqdsfl lafehyinyr khhvthfwpk
      421 llmkvtdlrm igachasrfl hmkvecptel fpplflevfe d
//
LOCUS       XP_047305217             231 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription cofactor vestigial-like protein 4 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047305217
VERSION     XP_047305217.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449261.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..231
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..231
                     /product="transcription cofactor vestigial-like protein 4
                     isoform X4"
                     /calculated_mol_wt=24440
     Region          <1..165
                     /region_name="VGLL4"
                     /note="Transcription cofactor vestigial-like protein 4;
                     pfam15245"
                     /db_xref="CDD:434567"
     Region          175..190
                     /region_name="TDU"
                     /note="Short repeats in human TONDU, fly vestigial and
                     other proteins; smart00711"
                     /db_xref="CDD:197839"
     CDS             1..231
                     /gene="VGLL4"
                     /gene_synonym="VGL-4"
                     /coded_by="XM_047449261.1:419..1114"
                     /db_xref="GeneID:9686"
                     /db_xref="HGNC:HGNC:28966"
                     /db_xref="MIM:618692"
ORIGIN      
        1 mepgdedldc dndhvskmsr ifnphlnkta ngdcrrdpre rsrspierav aptmslhgsh
       61 lytslpslgl eqplaltkns ldasrpagls ptltpgerqq nrpsvitcas agarncnlsh
      121 cpiahsgcaa pgpasyrrpp saattcdpvv eehfrrslgk nykepepapn svsitgsvdd
      181 hfakalgdtw lqikaakdga ssspesasrr gqpaspsahm vshshspsvv s
//
LOCUS       XP_047273685             738 aa            linear   PRI 20-MAR-2023
DEFINITION  multiple C2 and transmembrane domain-containing protein 1 isoform
            X23 [Homo sapiens].
ACCESSION   XP_047273685
VERSION     XP_047273685.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417729.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..738
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..738
                     /product="multiple C2 and transmembrane domain-containing
                     protein 1 isoform X23"
                     /calculated_mol_wt=84693
     Region          41..162
                     /region_name="C2A_MCTP_PRT"
                     /note="C2 domain first repeat found in Multiple C2 domain
                     and Transmembrane region Proteins (MCTP); cd04042"
                     /db_xref="CDD:176007"
     Site            order(56,62,109,111,117)
                     /site_type="other"
                     /note="putative Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176007"
     Region          211..326
                     /region_name="C2B_MCTP_PRT"
                     /note="C2 domain second repeat found in Multiple C2 domain
                     and Transmembrane region Proteins (MCTP); cd08376"
                     /db_xref="CDD:176022"
     Site            order(232,279,281,287)
                     /site_type="other"
                     /note="putative Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176022"
     Region          366..484
                     /region_name="C2C_MCTP_PRT"
                     /note="C2 domain third repeat found in Multiple C2 domain
                     and Transmembrane region Proteins (MCTP); cd08377"
                     /db_xref="CDD:176023"
     Site            order(382,388,434,436,442)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176023"
     Region          <627..712
                     /region_name="PRT_C"
                     /note="Plant phosphoribosyltransferase C-terminal;
                     pfam08372"
                     /db_xref="CDD:337028"
     CDS             1..738
                     /gene="MCTP1"
                     /coded_by="XM_047417729.1:164..2380"
                     /db_xref="GeneID:79772"
                     /db_xref="HGNC:HGNC:26183"
                     /db_xref="MIM:616296"
ORIGIN      
        1 mldscklksa cnlpficnkk iintagtsna evpladpgmy qlditlrrgq slaardrggt
       61 sdpyvkfkig gkevfrskii hknlnpvwee kacilvdhlr eplyikvfdy dfglqddfmg
      121 safldltqle lnrptdvtlt lkdphypdhd lgiillsvil tpkegesrdv elsenevvgs
      181 yfsvkslfwr fqtqslrlsd lhrkshlwrg ivsitliegr dlkamdsngl sdpyvkfrlg
      241 hqkykskimp ktlnpqwreq fdfhlyeerg gviditawdk dagkrddfig rcqvdlsals
      301 reqthklelq leegeghlvl lvtltasatv sisdlsvnsl edqkereeil krysplrifh
      361 nlkdvgflqv kviraeglma advtgksdpf cvvelnndrl lthtvyknln pewnkvftfn
      421 ikdihsvlev tvydedrdrs adflgkvaip llsiqngeqk ayvlknkqlt gptkgviyle
      481 idvifnavka slrtlipkeq kyieeenrls kqlllrnfir mkrcvmvlvn aayyvnscfd
      541 wdspprslaa fvlflfvvwn felymiplvl lllltwnyfl iisgkdnrqr dtvvedmled
      601 eeeeddkddk dsekkgfink iyaiqevcvs vqnildevas fgerikntfn wtvpflswla
      661 ivalcvftai lyciplryiv lvwginkftk klrspyaidn nelldflsrv psdvqvlqfc
      721 lescltclhf eicdvnis
//
LOCUS       XP_047274066             420 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM31 isoform X3 [Homo sapiens].
ACCESSION   XP_047274066
VERSION     XP_047274066.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418110.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..420
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..420
                     /product="E3 ubiquitin-protein ligase TRIM31 isoform X3"
                     /calculated_mol_wt=47367
     Region          13..56
                     /region_name="RING-HC_TRIM31_C-V"
                     /note="RING finger, HC subclass, found in tripartite
                     motif-containing protein 31 (TRIM31) and similar proteins;
                     cd16582"
                     /db_xref="CDD:438244"
     Region          93..131
                     /region_name="Bbox2_TRIM10-like"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing proteins, TRIM10, TRIM15, TRIM26, TRIM31
                     and similar proteins; cd19765"
                     /db_xref="CDD:380823"
     CDS             1..420
                     /gene="TRIM31"
                     /gene_synonym="C6orf13; HCG1; HCGI; RNF"
                     /coded_by="XM_047418110.1:111..1373"
                     /db_xref="GeneID:11074"
                     /db_xref="HGNC:HGNC:16289"
                     /db_xref="MIM:609316"
ORIGIN      
        1 masgqfvnkl qeevicpicl dilqkpvtid cghnfclkci tqigetscgf fkcplcktsv
       61 rknairfnsl lrnlvekiqa lqasevqskr keatcprhqe mfhyfceddg kflcfvcres
      121 kdhkshnvsl ieeaaqnyqg qiqeqiqvlq qkeketvqvk aqgvhrvdvf tdqvehekqr
      181 iltefellhq vleeeknfll sriywlgheg teagkhyvas tepqlndlkk lvdslktkqn
      241 mpprqlledi kvvlcseefq flnptpvple lekklseaks rhdsitgslk kfkdqlqadr
      301 kkdenrffks mnkndmkswg llqknnhkmn ktsepgsssa ggrttsgppn hhssapshsl
      361 frassagkvt fpvcllasyd eisgqgassq dtktfdvals eelhaalmek gspcssprtl
//
LOCUS       XP_047275485             557 aa            linear   PRI 20-MAR-2023
DEFINITION  tight junction-associated protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047275485
VERSION     XP_047275485.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419529.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..557
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..557
                     /product="tight junction-associated protein 1 isoform X1"
                     /calculated_mol_wt=61690
     Region          <17..>163
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          284..556
                     /region_name="Pilt"
                     /note="Protein incorporated later into Tight Junctions;
                     pfam15453"
                     /db_xref="CDD:434728"
     CDS             1..557
                     /gene="TJAP1"
                     /gene_synonym="PILT; TJP4"
                     /coded_by="XM_047419529.1:788..2461"
                     /db_xref="GeneID:93643"
                     /db_xref="HGNC:HGNC:17949"
                     /db_xref="MIM:612658"
ORIGIN      
        1 mtsaapakkp yrkappehre lrleipgsrl eqeepltdae rmkllqeene elrrrlasat
       61 rrtealerel eigqdclele lgqsreeldk fkdkfrrlqn sytasqrtnq eledklhtla
      121 slshswifai kkaemdrktl dweiveltnk lldakntink leelneryrl dcnlavqllk
      181 cnkshfrnhk fadlpcelqd mvrkhlhsgq eaaspgpaps lapgavvpts viarvlekpe
      241 slllnsaqsg sagrplaedv fvhvdmsegv pgdpasppap gsptpqpnge chslgtargs
      301 peeelplpaf eklnpyptps pphplypgrr viefsedkvr iprnsplpnc tyatrqaisl
      361 slveegsera rpspvpstpa saqasphhqp spapltlsap assasseedl lvswqrafvd
      421 rtpppaavaq rtafgrdalp elqrhfahsp adrdevvqap sarpeesell lptepdsgfp
      481 reeeelnlpi speeerqsll pinrgteegp gtshtegraw plpsssrpqr spkrmgvhhl
      541 hrkdsltqaq eqgnlln
//
LOCUS       XP_047277091             649 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-D-binding Myb-like transcription factor 1 isoform X6 [Homo
            sapiens].
ACCESSION   XP_047277091
VERSION     XP_047277091.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421135.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..649
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..649
                     /product="cyclin-D-binding Myb-like transcription factor 1
                     isoform X6"
                     /calculated_mol_wt=72775
     Region          <13..379
                     /region_name="REB1"
                     /note="Myb superfamily proteins, including transcription
                     factors and mRNA splicing factors [Transcription / RNA
                     processing and modification / Cell division and chromosome
                     partitioning]; COG5147"
                     /db_xref="CDD:227476"
     Site            order(168,196..197,199..200,202..204,206..208)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238096"
     Region          169..225
                     /region_name="Myb_DNA-bind_6"
                     /note="Myb-like DNA-binding domain; pfam13921"
                     /db_xref="CDD:372817"
     Region          215..270
                     /region_name="Myb_DNA-binding"
                     /note="Myb-like DNA-binding domain; pfam00249"
                     /db_xref="CDD:425555"
     Site            order(217,257..258,260..261,263..265,267..269)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238096"
     CDS             1..649
                     /gene="DMTF1"
                     /gene_synonym="DMP1; DMTF; hDMP1; MRUL"
                     /coded_by="XM_047421135.1:136..2085"
                     /db_xref="GeneID:9988"
                     /db_xref="HGNC:HGNC:14603"
                     /db_xref="MIM:608491"
ORIGIN      
        1 mvvnqilhga vhlasdnrvs endqsfevtm tattevadde vtegtvtqiq ilqneqldei
       61 splgneevsa vsqawfttke dkdsltnkgh kwkqgmwske eidilmnnie rylkargikd
      121 ateiifemsk derkdfyrti awglnrplfa vyrrvlrmyd drnhvgkytp eeieklkelr
      181 ikhgndwati gaalgrsass vkdrcrlmkd tcntgkwtee eekrlaevvh eltstepgdi
      241 vtqgvswaav aervgtrsek qcrskwlnyl nwkqsggtew tkedeinlil riaeldvade
      301 ndinwdllae gwssvrspqw lrskwwtikr qianhkdvsf pvlikglkql henqknnptl
      361 lenksgsgvp nsntnssvqh vqirvarled ntaissspma alqipvqith vssadspatv
      421 dsetitlnsg tlqtfeilps fhlqptgtpg tyllqtsssq glpltltasp tvtltaaapa
      481 speqiivhal spehllntsd nvtvqchtpr viiqtvated itssisqael tvdsdiqssd
      541 fpeppdalea dtfpdeihhp kmtvepsfnd ahvskfsdqn stelmnsvmv rteeeisdtd
      601 lkqeespsdl asayvteipy sniirknqis ldhpwavlfq kiqrmskiw
//
LOCUS       XP_016869575             863 aa            linear   PRI 20-MAR-2023
DEFINITION  protein MTSS 1 isoform X4 [Homo sapiens].
ACCESSION   XP_016869575
VERSION     XP_016869575.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014086.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..863
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..863
                     /product="protein MTSS 1 isoform X4"
                     /calculated_mol_wt=93272
     Region          7..237
                     /region_name="I-BAR_IMD_MIM"
                     /note="Inverse (I)-BAR, also known as the IRSp53/MIM
                     homology Domain (IMD), of Missing In Metastasis; cd07643"
                     /db_xref="CDD:153327"
     Site            order(18..19,22,26,29..30,32..33,36..37,40,43..44,46..47,
                     51,53..54,57..58,60..61,64..65,68..69,72,75,79,86,89,185,
                     188..189,191..192,195..196,198..199,202..203,206,209..210,
                     213,216,219..220,226..227,229..237)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153327"
     Site            order(149..150,152..153)
                     /site_type="other"
                     /note="putative actin binding residues [polypeptide
                     binding]"
                     /db_xref="CDD:153327"
     Region          <672..833
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          832..862
                     /region_name="WH2_MTSS1"
                     /note="Wiskott Aldrich syndrome homology region 2 (WH2
                     motif) found in Metastasis suppressor protein 1 (MTSS-1);
                     cd22060"
                     /db_xref="CDD:409203"
     Site            order(833..835,838..840,842..844,849..858,860..861)
                     /site_type="other"
                     /note="actin-binding motif [polypeptide binding]"
                     /db_xref="CDD:409203"
     Region          849..852
                     /region_name="actin-binding sequence"
                     /note="actin-binding sequence [structural motif]"
                     /db_xref="CDD:409203"
     CDS             1..863
                     /gene="MTSS1"
                     /gene_synonym="MIM; MIMA; MIMB"
                     /coded_by="XM_017014086.3:519..3110"
                     /db_xref="GeneID:9788"
                     /db_xref="HGNC:HGNC:20443"
                     /db_xref="MIM:608486"
ORIGIN      
        1 meaviekecs algglfqtii sdmkgsypvw edfinkagkl qsqlrttvva aaafldafqk
       61 vadmatntrg gtreigsalt rmcmrhrsie aklrqfssal idclinplqe qmeewkkvan
      121 qldkdhakey kkarqeikkk ssdtlklqkk akkgrgdiqp qldsalqdvn dkyllleete
      181 kqavrkalie ergrfctfis mlrpvieeei smlgeithlq tisedlkslt mdphklpsss
      241 eqvildlkgs dyswsyqtpp sspsttmsrk ssvcslnsvn ssdsrssgsh shspsshyry
      301 rssnlaqqap vrlssvsshd sgfisqdafq skspspmppe apnqlsngfs hyslsseshv
      361 gptgaglfph clpasrllpr vtsvhlpdya hyytigpgmf pssqipswkd wakpgpydqp
      421 lvntlqrrke krepdpnggg pttasgppaa aeeaqrprsm tvsaatrvml lfsvagwghl
      481 slagdhilas nwgakaalql egpglhslts cstakslgkk pcvgmreael srvrvgpkqv
      541 nsplapqtcs ahggrtgvll spppkatcvf lssnlqpgee meaceelala lsrglqldtq
      601 rssrdslqcs sgystqtttp ccsedtipsq vsdydyfsvs gdqeadqqef dksstiprns
      661 disqsyrrmf qakrpastag lpttlgpamv tpgvatirrt pstkpsvrrg tigagpipik
      721 tpvipvktpt vpdlpgvlpa ppdgpeerge hspespsvge gpqgvtsmps smwsgqasvn
      781 pplpgpkpsi peehrqaipe seaedqerep psatvspgqi pesdpadlsp rdtpqgedml
      841 nairrgvklk ktttndrsap rfs
//
LOCUS       XP_047278870             377 aa            linear   PRI 20-MAR-2023
DEFINITION  ELAV-like protein 2 isoform X8 [Homo sapiens].
ACCESSION   XP_047278870
VERSION     XP_047278870.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422914.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..377
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..377
                     /product="ELAV-like protein 2 isoform X8"
                     /calculated_mol_wt=41420
     Region          53..376
                     /region_name="ELAV_HUD_SF"
                     /note="ELAV/HuD family splicing factor; TIGR01661"
                     /db_xref="CDD:273741"
     CDS             1..377
                     /gene="ELAVL2"
                     /gene_synonym="HEL-N1; HELN1; HUB"
                     /coded_by="XM_047422914.1:42..1175"
                     /db_xref="GeneID:1993"
                     /db_xref="HGNC:HGNC:3313"
                     /db_xref="MIM:601673"
ORIGIN      
        1 mplfnneprc fqqviaamet qlsngptcnn tangpttinn ncsspvdsgn tedsktnliv
       61 nylpqnmtqe elkslfgsig eiescklvrd kitgqslgyg fvnyidpkda ekaintlngl
      121 rlqtktikvs yarpssasir danlyvsglp ktmtqkeleq lfsqygriit srilvdqvtg
      181 isrgvgfirf dkrieaeeai kglngqkppg atepitvkfa nnpsqktnqa ilsqlyqspn
      241 rrypgplaqq aqrfrldnll nmaygvksrf spmtidgmts laginipghp gtgwcifvyn
      301 lapdadesil wqmfgpfgav tnvkvirdfn tnkckgfgfv tmtnydeaam aiaslngyrl
      361 gdrvlqvsfk tnkthka
//
LOCUS       XP_047279901             877 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 484 isoform X2 [Homo sapiens].
ACCESSION   XP_047279901
VERSION     XP_047279901.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423945.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..877
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..877
                     /product="zinc finger protein 484 isoform X2"
                     /calculated_mol_wt=100778
     Region          25..84
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          306..326
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          355..375
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          384..403
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          395..420
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          411..431
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(416,418,420,422..423,426..427,430,444,446,450..451,
                     454..455,458,472,474,476,478..479,482..483,486)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          435..836
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          439..459
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          467..487
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          495..515
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(500,502,504,506..507,510..511,514,528,530,534..535,
                     538..539,542,556,558,560,562..563,566..567,570)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          523..543
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          551..571
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          579..599
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          607..627
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          635..655
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          663..683
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          691..711
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          719..739
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(724,726,728,730..731,734..735,738,752,754,758..759,
                     762..763,766,780,782,784,786..787,790..791,794)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          747..767
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          775..795
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          803..823
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..877
                     /gene="ZNF484"
                     /gene_synonym="BA526D8.4"
                     /coded_by="XM_047423945.1:199..2832"
                     /db_xref="GeneID:83744"
                     /db_xref="HGNC:HGNC:23385"
ORIGIN      
        1 msvlslpisa plseepkmtk slesvsfkdv tvdfsrdewq qldlaqksly revmlenyfn
       61 lisvgcqvpk pevifsleqe epcmldgeip sqsrpvlsfl sfldgdigfg plqqrmseev
      121 sfqseininl ftrddpysil eelwkddeht rkcgenqnkp lsrvvfinkk tlandsifey
      181 kdigeivhvn thlvssrkrp hncnscgknl epiitlynrn natensdkti gdgdifthln
      241 shtevtacec nqcgkplhhk qaliqqqkih treslylfsd yvnvfspksh afahesicae
      301 ekqhechece avftqksqld gsqrvyagic teyekdfslk snrqktpyeg nyykcsdygr
      361 afiqksdlfr cqrihsgekp yeyseceknl pqnsnlnihk kihtggkhfe ctecgkaftr
      421 kstlsmhqki htgekpyvct ecgkafirks hfitheriht gekpyecsdc gksfikksql
      481 hvhqrihtge npficsecgk vfthktnlii hqkihtgerp yictvcgkaf tdrsnlikhq
      541 kihtgekpyk csdcgksftw ksrlrihqkc htgerhyecs ecgkafiqks tlsmhqrihr
      601 gekpyvctec gkaffhkshf itherihtge kpyecsicgk sftkksqlhv hqqihtgekp
      661 yrcaecgkaf tdrsnlfthq kihtgekpyk csdcgkaftr ksglhihqqs htgerhyecs
      721 ecgkafarks tlimhqriht gekpyicnec gksfiqkshl nrhrrihtge kpyecsdcgk
      781 sfikksqlhe hhrihtgekp yicaecgkaf tirsnlikhq kihtkqkpyk csdlgkalnw
      841 kpqlsmpqks dngevecsmp qlwcgdsegd qgqlssi
//
LOCUS       XP_011517524             509 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine deaminase isoform X1 [Homo sapiens].
ACCESSION   XP_011517524
VERSION     XP_011517524.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011519222.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..509
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..509
                     /product="guanine deaminase isoform X1"
                     /calculated_mol_wt=56987
     Region          13..482
                     /region_name="GDEase"
                     /note="Guanine deaminase (GDEase). Guanine deaminase is an
                     aminohydrolase responsible for the conversion of guanine
                     to xanthine and ammonia, the first step to utilize guanine
                     as a nitrogen source. This reaction also removes the
                     guanine base from the pool and...; cd01303"
                     /db_xref="CDD:238628"
     Site            order(82,84,278,281,317,368)
                     /site_type="active"
                     /db_xref="CDD:238628"
     CDS             1..509
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /coded_by="XM_011519222.3:121..1650"
                     /db_xref="GeneID:9615"
                     /db_xref="HGNC:HGNC:4212"
                     /db_xref="MIM:139260"
ORIGIN      
        1 mcaaqmppla hifrgtfvhs twtcpmevlr dhllgvsdsg kivfleeasq qeklakewcf
       61 kpceirelsh heffmpglvd thihasqysf agssidlpll ewltkytfpa ehrfqnidfa
      121 eevytrvvtl ellmsvlvkk tlffhkggnm eckqpsqghv annrqnrrtl kngtttacyf
      181 atihtdssll laditdkfgq rafvgkvcmd lndtfpeyke tteesikete rfvsemlqkn
      241 ysrvkpivtp rfslscsetl mgelgniakt rdlhiqshis enrdeveavk nlypsyknyt
      301 svydknnllt nktvmahgcy lsaeelnvfh ergasiahcp nsnlslssgf lnvlevlkhe
      361 vkiglgtdva ggysysmlda irravmvsni llinkvneks ltlkevfrla tlggsqalgl
      421 dgeignfevg kefdailinp kasdspidlf ygdffgdise aviqkflylg ddrnieevyv
      481 ggkqvvpfss svketihlpa ssphpppfp
//
LOCUS       XP_011517554            2357 aa            linear   PRI 20-MAR-2023
DEFINITION  protein transport protein Sec16A isoform X6 [Homo sapiens].
ACCESSION   XP_011517554
VERSION     XP_011517554.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011519252.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2357
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..2357
                     /product="protein transport protein Sec16A isoform X6"
                     /calculated_mol_wt=251764
     Region          <4..298
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1497..1859
                     /region_name="ACE1-Sec16-like"
                     /note="Ancestral coatomer element 1 (ACE1) of COPII coat
                     complex assembly protein Sec16; cd09233"
                     /db_xref="CDD:187750"
     Site            order(1616..1617,1619..1620,1622..1626,1628,1630,1640,
                     1642,1644..1645,1647..1648,1652,1658,1665,1674,1679,1682,
                     1710..1711)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:187750"
     Site            order(1782,1804..1805,1807..1808,1811..1812,1815,
                     1842..1843,1846..1847,1850,1854)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:187750"
     CDS             1..2357
                     /gene="SEC16A"
                     /gene_synonym="KIAA0310; p250; SEC16L"
                     /coded_by="XM_011519252.2:173..7246"
                     /db_xref="GeneID:9919"
                     /db_xref="HGNC:HGNC:29006"
                     /db_xref="MIM:612854"
ORIGIN      
        1 mqpppqtvps gmagpppagn prsvfwassp yrrrannnaa vapttcplqp vtdpfafsrq
       61 alqstplgss skssppvlqg papagfsqhp gllvphthar dssqgpcepl pgpltqprah
      121 aspfsgaltp sappgpemnr saevgpssep evqtlpylph yipgvdpets hgghphgnmp
      181 gldrplsrqn phdgvvtpaa spslpqpglq mpgqwgpvqg gpqpsgqhrs pcpegpvpsg
      241 vpcatsvphf ptpsilhqgp gheqhsplva ppaalpsdgr devshlqsgs hlannsdpes
      301 tfrqnprivn hwaspelrqn pgvknehrpa salvnplarg dspenrthhp lgagagsgca
      361 pleadsgasg alamffqgge teneenlsse kaglsgqadf ddfcsspglg rppapthvga
      421 gslcqallpg psneaagdvw gdtastgvpd asgsqyenve nlefvqnqev lpseplnldp
      481 sspsdqfryg plpgpavprh gavchtgapd atlhtvhpds vsssyssrsh grlsgsarpq
      541 elvgtfiqqe vgkpedeasg sffkqidssp vggetdettv sqnyrgsvsq pstpsppkpt
      601 gifqtsanss fepvkshlvg vkpfeadran vvgevretcv rqkqcrpaaa lpdaspgnle
      661 qppdnmetlc apqvcplpln stteavhmlp hagappldtv ypapekrpsa rtqgpvkces
      721 pattlwaqse lpdfggnvll apaapalyvc akpqppvvqp peeamsgqqs rnpssaapvq
      781 srggigasen lenppkmgee ealqsqassg yasllssppt eslqnppvli aqpdhsynla
      841 qpinfsvsls nsheknqswr ealvgdrpav sswalggdsg entslsgipt ssvlslslps
      901 svaqsnfpqg sgasemvsnq panllvqpps qpvpenlvpe sqkdrkagsa lpgfanspag
      961 stsvvlvppa hgtlvpdgnk anhsshqedt ygaldftlsr tlenpvnvyn pshsdslasq
     1021 qsvashprqs gpgapnldrf yqqvtkdaqg qpgleraqqe lvppqqqasp pqlpkamfse
     1081 lsnpeslpaq gqaqnsaqsp aslvlvdagq qlpprppqss svslvssgsg qaavpseqpw
     1141 pqpvpalapg pppqdlaayy yyrplydayq pqyslpyppe pgaaslyyqd vyslyepryr
     1201 pydgaasaya qnyrypeper pssrashsse rppprqgype gyyssksgws sqsdyyasyy
     1261 ssqydygdpg hwdryhysar vrdprtydrr ywcdaeyday rrehsafgdr pekrdnnwry
     1321 dprftgsfdd dpdphrdpyg eevdrrsvhs ehsarslhsa hslasrrssl sshshqsqiy
     1381 rshnvaagsy eaplppgsfh gdfaygtyrs nfssgpgfpe ygypadtvwp ameqvssrpt
     1441 spekfsvphv carfgpggql ikvipnlpse gqpalvevhs meallqhtse qeemrafpgp
     1501 lakddthkvd vinfaqnkam kclqnenlid kesasllwnf ivllcrqngt vvgtdiaell
     1561 lrdhrtvwlp gkspneanli dftneaveqv eeeesgeaql sfltggpaaa asslereter
     1621 frelllygrk kdalesamkn glwghallla skmdsrthar vmtrfanslp indplqtvyq
     1681 lmsgrmpaas tccgdekwgd wrphlamvls nlnnnmdves rtmatmgdtl asrglldaah
     1741 fcylmaqagf gvytkkttkl vligsnhslp flkfatneai qrteayeyaq slgaetcplp
     1801 sfqvfkfiys crlaemglat qafhyceaia ksiltqphly spvlisqlvq masqlrlfdp
     1861 qlkekpeees laaptwlvhl qqverqikeg agvwhqdgal pqqcpgtpss emeqldrpgl
     1921 sqpgalgian pllavpapsp ehsspsvrll psapqtlpdg plasparvpm fpvplppgpl
     1981 epgpgcvtpg palgflepsg pglppgvppl qerrhllqea rspdpgivpq eapvgnslse
     2041 lseenfdgkf anltpsrtvp dseappgwdr adsgptqppl slspapetkr pgqaakketk
     2101 epkkgeswff rwlpgkkkte aylpddknks ivwdekknqw vnlnepeeek kappppptsm
     2161 pktvqaappa lpgppgapvn mysrraagtr aryvdvlnps gtqrsepala padfvaplap
     2221 lpipsnlfvp tpdaeepqlp dgtgregpaa arglanpepa pepkvlssaa slpgselpss
     2281 rpegsqggel srcssmssls revsqhfnqa pgdlpaaggp psgampfynp aqlaqacats
     2341 gssrlgrigq rkhlvln
//
LOCUS       XP_006724839            1785 aa            linear   PRI 20-MAR-2023
DEFINITION  BCL-6 corepressor-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_006724839
VERSION     XP_006724839.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006724776.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1785
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1785
                     /product="BCL-6 corepressor-like protein 1 isoform X1"
                     /calculated_mol_wt=190431
     Region          <198..636
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1496..1527
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(1497,1501..1502,1505..1507,1509..1510,1514,1517,
                     1527,1529,1531,1535..1536,1539..1541,1543..1544,1548,1551,
                     1560,1562,1564,1568..1569,1572..1574,1576..1577,1581,1584)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          1500..1591
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          1529..1560
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1562..1591
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1666..1779
                     /region_name="PUFD_like_1"
                     /note="PCGF Ub-like fold discriminator of BCOR-like 1;
                     cd14260"
                     /db_xref="CDD:271223"
     Site            order(1668,1670..1680,1682,1684,1693..1695,1697,
                     1738..1739,1741,1744,1766,1777,1779)
                     /site_type="other"
                     /note="RAWUL domain interface [polypeptide binding]"
                     /db_xref="CDD:271223"
     CDS             1..1785
                     /gene="BCORL1"
                     /gene_synonym="BCoR-L1; CXorf10; SHUVER"
                     /coded_by="XM_006724776.4:265..5622"
                     /db_xref="GeneID:63035"
                     /db_xref="HGNC:HGNC:25657"
                     /db_xref="MIM:300688"
ORIGIN      
        1 mistaplysg vhnwtssdri rmcgineerr aplsdeestt gdcqhfgsqe fcvsssfskv
       61 eltavgsgsn argadpdgsa teklghksed kpddpqpkmd yagnvaeaeg llvplsspgd
      121 glklpasdsa easnsradcs wtplntqmsk qvdcspagvk aldsrqgvge kntfilatlg
      181 tgvpvegtlp lvttnfsplp apicppapgs asvphsvpda fqvplsvpap vphsglvpvq
      241 vatsvpapsp plapvpalap appsvptlis dsnplsvsas vlvpvpasap psgpvplsap
      301 apaplsvpvs applaliqap vppsaptlvl apvptpvlap mpastppaap appsvpmptp
      361 tpssgppstp tlipafaptp vpaptpapif tpaptpmpaa tpaaiptsap ipasfslsrv
      421 cfpaaqapam qkvplsfqpg tvltpsqplv yipppscgqp lsvatlpttl gvsstltlpv
      481 lpsylqdrcl pgvlaspelr sypyafsvar pltsdsklvs levnrlpcts psgstttqpa
      541 pdgvpgplad tslvtasakv lptpqpllpa psgssapphp akmpsgteqq tegtsvtfsp
      601 lksppqlere masppecsem pldlssksnr qklplpnqrk tppmpvltpv htsskallst
      661 vlsrsqrttq aaggnvtscl gstsspfvif peivrngdps twvknstali stipgtyvgv
      721 anpvpaslll nkdpnlglnr dprhlpkqep isiidqgepk gtgatcgkkg sqagaegqps
      781 tvkrytpari apglpgcqtk elslwkptgp aniyprcsvn gkptstqvlp vgwspyhqas
      841 llsigissag qltpsqgapi rptsvvsefs gvpslsssea vhglpegqpr pggsfvpeqd
      901 pvtknktcri aakpyeeqvn pvlltlspqt gtlalsvqps ggdirmnqgp eeseshlcsd
      961 stpkmegpqg acglklagdt kpknqvlaty mshelvlatp qnlpkmpelp llphdshpke
     1021 lildvvpssr rgssterpql gsqvdlgrvk mekvdgdvvf nlatcfradg lpvapqrgqa
     1081 evrakagqar vkqesvgvfa cknkwqpddv teslppkkmk cgkekdseeq qlqpqakavv
     1141 rsshrpkcrk lpsdpqestk ksprgasdsg kehngvrgkh khrkptkpes qspgkradsh
     1201 eegslekkak ssfrdfipvv lstrtrsqsg sicssfagma dsdmgsqevf pteeeeevtp
     1261 tpakrrkvrk tqrdtqyrsh haqdksllsq grrhlwrare mpwrteaarq mwdtneeeee
     1321 eeeegllkrk krrrqksrky qtgeylteqe deqrrkgrad lkarkqktss sqslehrlrn
     1381 rnlllpnkvq gisdspngfl pnnleepacl ensekpsgkr kcktkhmatv seeakgkgrw
     1441 sqqktrspks ptpvkptepc tpsksrsass eeasesptar qippearrli vnknagetll
     1501 qraarlgykd vvlyclqkds edvnhrdnag ytalheacsr gwtdilnill ehganvncsa
     1561 qdgtrpvhda vvndnletiw lllsygadpt latysgqtam klassdtmkr flsdhlsdlq
     1621 graegdpgvs wdfysssvle ekdgfacdll hnppgssdqe gddpmeeddf mfelsdkpll
     1681 pcynlqvsvs rgpcnwflfs dvlkrlklss rifqarfphf eittmpkaef yrqvassqll
     1741 tpaerpggld drsppgsset velvryepdl lrllgsevef qscns
//
LOCUS       XP_054185642            1037 aa            linear   PRI 20-MAR-2023
DEFINITION  NACHT, LRR and PYD domains-containing protein 7 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054185642
VERSION     XP_054185642.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329667.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571054.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1037
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..1037
                     /product="NACHT, LRR and PYD domains-containing protein 7
                     isoform X5"
                     /calculated_mol_wt=118173
     CDS             1..1037
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /coded_by="XM_054329667.1:325..3438"
                     /db_xref="GeneID:199713"
                     /db_xref="HGNC:HGNC:22947"
                     /db_xref="MIM:609661"
ORIGIN      
        1 mtspqlewtl qtlleqlned elksfksllw afpledvlqk tpwseveead gkklaeilvn
       61 tssenwirna tvnileemnl telckmakae mmedgqvqei dnpelgdaee dselakpgek
      121 egwrnsmekq slvwkntfwq gdidnfhddv tlrnqrfipf lnprtprklt pytvvlhgpa
      181 gvgkttlakk cmldwtdcnl sptlryafyl sckelsrmgp csfaeliskd wpelqddips
      241 ilaqaqrilf vvdgldelkv ppgaliqdic gdwekkkpvp vllgsllkrk mlpraallvt
      301 trpralrdlq llaqqpiyvr vegfleedrr ayflrhfgde dqamrafelm rsnaalfqlg
      361 sapavcwivc ttlklqmekg edpvptcltr tglflrflcs rfpqgaqlrg alrtlsllaa
      421 qglwaqmsvf hredlerlgv qesdlrlfld gdilrqdrvs kgcysfihls fqqfltalfy
      481 alekeegedr dghawdigdv qkllsgeerl knpdliqvgh flfglanekr akeleatfgc
      541 rmspdikqel lqckahlhan kplsvtdlke vlgclyesqe eelakvvvap fkeisihltn
      601 tsevmhcsfs lkhcqdlqkl slqvakgvfl enymdfeldi eferctylti pnwarqdlrs
      661 lrlwtdfcsl fssnsnlkfl evkqsflsds svrilcdhvt rstchlqkve iknvtpdtay
      721 rdfclafigk ktlthltlag hiewertmml mlcdllrnhk cnlqylrlgg hcatpeqwae
      781 ffyvlkanqs lkhlrlsanv lldegamlly ktmtrpkhfl qmlslencrl teasckdlaa
      841 vlvvskklth lclaknpigd tgvkflcegl sypdcklqtl vlqqcsitkl gcrylsealq
      901 eacsltnldl sinqiarglw ilcqalenpn cnlkhlrlws cslmpfycqh lgsallsnqk
      961 letldlgqnh lwksgiiklf gvlrqrtgsl kilrlktyet nleikkllee vkeknpklti
     1021 dcnasgatap pccdffc
//
LOCUS       XP_054186736             421 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM31 isoform X2 [Homo sapiens].
ACCESSION   XP_054186736
VERSION     XP_054186736.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330761.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167247.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..421
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..421
                     /product="E3 ubiquitin-protein ligase TRIM31 isoform X2"
                     /calculated_mol_wt=47523
     CDS             1..421
                     /gene="TRIM31"
                     /gene_synonym="C6orf13; HCG1; HCGI; RNF"
                     /coded_by="XM_054330761.1:111..1376"
                     /db_xref="GeneID:11074"
                     /db_xref="HGNC:HGNC:16289"
                     /db_xref="MIM:609316"
ORIGIN      
        1 masgqfvnkl qeevicpicl dilqkpvtid cghnfclkci tqigetscgf fkcplcktsv
       61 rknairfnsl lrnlvekiqa lqasevqskr keatcprhqe mfhyfceddg kflcfvcres
      121 kdhkshnvsl ieeaaqnyqg qiqeqiqvlq qkeketvqvk aqgvhrvdvf tdqvehekqr
      181 iltefellhq vleeeknfll sriywlgheg teagkhyvas tepqlndlkk lvdslktkqn
      241 mpprqlledi kvvlcrseef qflnptpvpl elekklseak srhdsitgsl kkfkdqlqad
      301 rkkdenrffk smnkndmksw gllqknnhkm nktsepgsss aggrttsgpp nhhssapshs
      361 lfrassagkv tfpvcllasy deisgqgass qdtktfdval seelhaalme kgspcssprt
      421 l
//
LOCUS       XP_054186759             172 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C6orf136 isoform X2 [Homo sapiens].
ACCESSION   XP_054186759
VERSION     XP_054186759.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330784.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167247.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 9% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..172
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..172
                     /product="uncharacterized protein C6orf136 isoform X2"
                     /calculated_mol_wt=20359
     CDS             1..172
                     /gene="C6orf136"
                     /coded_by="XM_054330784.1:770..1288"
                     /db_xref="GeneID:221545"
                     /db_xref="HGNC:HGNC:21301"
ORIGIN      
        1 meehlsvmye rlrqelpklf lqshdyslys ldvefineil nirtkgrtwy ilsltlcrfl
       61 awnyfahlrl evlqltrhpe nwtlqarwrl vglpvhllfl rfykrdkdeh yrtydaystf
      121 ylnssglicr hrldklmpsh spptpvkkll vgalvalgls epepdlnlcs kp
//
LOCUS       XP_054188780             641 aa            linear   PRI 20-MAR-2023
DEFINITION  spermatogenesis-associated protein 21 isoform X2 [Homo sapiens].
ACCESSION   XP_054188780
VERSION     XP_054188780.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332805.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791756) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..641
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     Protein         1..641
                     /product="spermatogenesis-associated protein 21 isoform
                     X2"
                     /calculated_mol_wt=69646
     CDS             1..641
                     /gene="SPATA21"
                     /gene_synonym="spergen-2; spergen2"
                     /coded_by="XM_054332805.1:767..2692"
                     /db_xref="GeneID:374955"
                     /db_xref="HGNC:HGNC:28026"
ORIGIN      
        1 mdnrntqmyt egrtkapgtq pspglritik ragvepiipg vskvmfpdas evgskkhlss
       61 asrgpekgpr lrdafekgps elriqeqgpp arpgkkqpsw vpqegsqelq agqdqselgl
      121 lpswvpevpe glqqlgsgke ikgqqgrqrn rgigedqppe scqgsgyqst pshqadmvqp
      181 aepccrlash gqplggkhpk eagvphirpq eappepspgg hgdssqeamp pmsvvapeek
      241 tvnpflpstp gpkkakggge avethpapgp lpppevrdig errepdraqq qpqkpavaag
      301 tqslgnfrqg fmkcllevek meashrrask arsqtaqksp rtltpvptsa pslpqtpasv
      361 pasgpswarl papgpepapm gapvptsmpc pvllgpaldl gwrrmellhq ssertlsyak
      421 arqepeeqsl qklyqnreks eeqltlkqee afrsyfeifn gpgevdaqsl knilllmgfs
      481 vtlaqvedal msadvngdgr vdfkdflavm tdtrrffcsv eqnalsdmap hnphtllfei
      541 lsllvemlal peavleeitn yyqkklkegt ckaqemeaav grlrlqklpy npqqeessev
      601 perkvlsils rlkqqnygsq akgaerpvsh fglncvhqkt g
//
LOCUS       XP_054189574             489 aa            linear   PRI 20-MAR-2023
DEFINITION  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform
            X42 [Homo sapiens].
ACCESSION   XP_054189574
VERSION     XP_054189574.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333599.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187693.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..489
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..489
                     /product="leukocyte immunoglobulin-like receptor subfamily
                     B member 4 isoform X42"
                     /calculated_mol_wt=53591
     CDS             1..489
                     /gene="LILRB4"
                     /gene_synonym="B4; CD85K; ILT-3; ILT3; LIR-5; LIR5"
                     /coded_by="XM_054333599.1:218..1687"
                     /db_xref="GeneID:11006"
                     /db_xref="HGNC:HGNC:6608"
                     /db_xref="MIM:604821"
ORIGIN      
        1 meqphdekdp askrphpvcl fvlpalrthp saqlgplggd amiptftall clglslgprt
       61 hmqagplpkp tlwaepgsvi swgnsvtiwc qgtleareyr ldkeespapw drqnplepkn
      121 karfsipsmt edyagryrcy yrspvgwsqp sdplelvmtg ayskptlsal psplvtsgks
      181 vtllcqsrsp mdtflliker aahpllhlrs ehgaqqhqae fpmspvtsvh ggtyrcfssh
      241 gfshyllshp sdplelivsg sledprpspt rsvstagped qplmptgsvp hsglrrhwev
      301 ligvlvvsil llslllflll qhwrqgkhrt laqrqadfqr ppgaaepepk dgglqrrssp
      361 aadvqgenfs gaavkntqpe dgvemdtrqs phdedpqavt yakvkhsrpr remasppspl
      421 sgefldtkdr qaeedrqmdt eaaaseapqd vtyaqlhsft lrqkateppp sqegaspaep
      481 svyatlaih
//
LOCUS       XP_054190272             469 aa            linear   PRI 20-MAR-2023
DEFINITION  choline transporter-like protein 3 isoform X15 [Homo sapiens].
ACCESSION   XP_054190272
VERSION     XP_054190272.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334297.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..469
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..469
                     /product="choline transporter-like protein 3 isoform X15"
                     /calculated_mol_wt=53072
     CDS             1..469
                     /gene="SLC44A3"
                     /gene_synonym="CTL3"
                     /coded_by="XM_054334297.1:96..1505"
                     /db_xref="GeneID:126969"
                     /db_xref="HGNC:HGNC:28689"
ORIGIN      
        1 mhclgaeylv saegaprqre wrpqiyrkct dtawlflffl fwtglvfimg ysvvagaagr
       61 llfgydsfgn mcgkknspve gaplsgqdmt lkkhvffmns cnlevkgsfl cvyslnsfny
      121 thspkadslc prlpvppsks fplfnrcvpq tpecyslfas vlindvdtlh rilsgimsgr
      181 dtilglcila lalslammft frfittllvh ifislvilgl lfvcgvlwwl yydytndlsi
      241 eldterenmk cvlgfaivst gitavllvli fvlrkriklt velfqitnka issapfllfq
      301 plwtfailif fwvlwvavll slgtagaaqv meggqveykp lsgirymwsy hligliwtse
      361 filacqqmti agavvtcyfn rskndppdhp ilsslsilff yhqgtivkgs flisvvripr
      421 iivmymqnal keqqhgalsr ylfrccyccf wcldkyllhl nqeihltsh
//
LOCUS       XP_054191586            1665 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 24 isoform X5 [Homo sapiens].
ACCESSION   XP_054191586
VERSION     XP_054191586.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335611.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1665
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1665
                     /product="ubiquitin carboxyl-terminal hydrolase 24 isoform
                     X5"
                     /calculated_mol_wt=184389
     CDS             1..1665
                     /gene="USP24"
                     /coded_by="XM_054335611.1:252..5249"
                     /db_xref="GeneID:23358"
                     /db_xref="HGNC:HGNC:12623"
                     /db_xref="MIM:610569"
ORIGIN      
        1 meseeeqhmt tllcmgfsdp atirkalrla kndineaval ltnerpgldy ggyepmdsgg
       61 gpspgpgggp rgdgggdggg ggpsrggstg ggggfdpppa yhevvdaekn dengncsgeg
      121 iefpttnlye lesrvltdhw sipykreesl gkcllastyl arlglsesde ncrrfmdrcm
      181 peafkkllts savhkwgtei hegiynmlml lielvaerik qdpipigllg vltmafnpdn
      241 eyhfknrmkv sqrnwaevfg egnmfavspv stfqkephgw vvdlvnkfge lggfaaiqak
      301 lhsedielga vsaliqplgv caeylnssvv qpmldpvilt tiqdvrsvee kdlkdkrlvs
      361 ipellsavkl lcmrfqpdlv tivddlrldi llrmlksphf sakmnslkev tkliedstls
      421 ksvknaidtd rlldwlvens vlsialegni dqaqycdrik giiellgskl sldeltkiwk
      481 iqsgqsstvi enihtiiaaa avkfnsdqln hlfvliqksw etesdrvrqk llsligrigr
      541 earfettsgk vldvlwelah lptlpssliq qaleehltil sdayavkeai krsyiikcie
      601 dikrpgewsg leknkkdgfk qggltgdyvs lpgytetkqr ssqlnnpqfv wvvpalrqlh
      661 eitrsfikqt yqkqdksiiq dlkknfeivk lvtgsliach rlaaavagpg glsgstlvdg
      721 rytyreylea hlkflafflq eatlylgwnr akeiweclvt gqdvceldre mcfewftkgq
      781 hdlesdvqqq lfkekilkle syeitmngfn lfktffenvn lcdhrlkrqg aqlyveklel
      841 igmdfiwkia mespdeeian eaiqliinys yinlnprlkk dsvslhkkfi adcytrleaa
      901 ssalggptlt havtratkml tatamptvat svqspyrstk lviierllll aeryvitied
      961 fysvprtilp hgasfhghll tlnvtyestk dtftveahsn etigsvrwki akqlcspvdn
     1021 iqiftndsll tvnkdqkllh qlgfsdeqil tvktsgsgtp sgssadssts ssssssgvfs
     1081 ssyameqeks lpgvvmalvc nvfdmlyqla nleepritlr vrkllllipt dpaiqealdq
     1141 ldslgrkktl lsesssqssk spslsskqqh qpsassiles lfrsfapgms tfrvlynlev
     1201 lssklmptad ddmarscaks fcenflkagg lslvvnvmqr dsipsevdye trqgvysicl
     1261 qlarfllvgq tmptlldedl tkdgiealss rpfrnvsrqt srqmslcgtp ekssyrqlsv
     1321 sdrssirvee iipaarvaiq tmevsdftst vacfmrlswa aaagrldlvg ssqpikesns
     1381 lcpagirnrl sssgsncssg segepvalha gicvrqqsvs tkdsliagea lsllvtclql
     1441 rsqqlasfyn lpcvadfiid illgspsaei rrvacdqlyt lsqtdtsahp dvqkpnqfll
     1501 gviltaqlpl wsptsimrgv nqrllsqcme yfdlrcqlld dlttsemeql rispatmled
     1561 eitwldnfep nrtaecetse adnillaghl rliktllslc gaekemlgss likpllddfl
     1621 frasriilns hspagsaais qqdfhpkygk cvvqriadwq pmksl
//
LOCUS       XP_054192367             502 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-6 receptor subunit alpha isoform X11 [Homo sapiens].
ACCESSION   XP_054192367
VERSION     XP_054192367.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336392.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..502
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..502
                     /product="interleukin-6 receptor subunit alpha isoform
                     X11"
                     /calculated_mol_wt=55686
     CDS             1..502
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /coded_by="XM_054336392.1:656..2164"
                     /db_xref="GeneID:3570"
                     /db_xref="HGNC:HGNC:6019"
                     /db_xref="MIM:147880"
ORIGIN      
        1 mktphkqegi crpgrepcaa sesqehgrge vargvltslp gdsvtltcpg vepednatvh
       61 wvlrkpaags hpsrwagmgr rlllrsvqlh dsgnyscyra grpagtvhll vdvppeepql
      121 scfrksplsn vvcewgprst pslttkavll vrkfqnspae dfqepcqysq esqkfscqla
      181 vpegdssfyi vsmcvassvg skfsktqtfq gcgilqpdpp anitvtavar nprwlsvtwq
      241 dphswnssfy rlrfelryra ersktfttwm vkdlqhhcvi hdawsglrhv vqlraqeefg
      301 qgewsewspe amgtpwtesr sppaenevst pmqalttnkd ddnilfrdsa natslpgtai
      361 kevpkafrll yplcalweqv echqkshsem qasssvplpt flvaggslaf gtllciaivl
      421 rfkktwklra lkegktsmhp pyslgqlvpe rprptpvlvp lisppvspss lgsdntsshn
      481 rpdardprsp ydisntdyff pr
//
LOCUS       XP_054195126             657 aa            linear   PRI 20-MAR-2023
DEFINITION  SH3-containing GRB2-like protein 3-interacting protein 1 isoform
            X12 [Homo sapiens].
ACCESSION   XP_054195126
VERSION     XP_054195126.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339151.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..657
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..657
                     /product="SH3-containing GRB2-like protein 3-interacting
                     protein 1 isoform X12"
                     /calculated_mol_wt=71313
     CDS             1..657
                     /gene="SGIP1"
                     /coded_by="XM_054339151.1:207..2180"
                     /db_xref="GeneID:84251"
                     /db_xref="HGNC:HGNC:25412"
                     /db_xref="MIM:611540"
ORIGIN      
        1 mmeglkkrtr kafgirkkek dtdstgspdr dgiqgkkktq ktqllltscf wlralsltls
       61 qkksngapng fyaeidwery nspeldeegy sirpeepgst kgkhfyssse seeeeeshkk
      121 fnikikplqs kdilknaatv delkasigni alspspvgai krnlsseeva rprrstptpe
      181 liskkppddt talaplfgpp lesafdeqkt evlldqpeiw gsgqpinpsm espkltrpfp
      241 tgtppplppk nvpatpprtg spltigpgas sparpatplv pcrsttpppp pprppsrpkl
      301 ppgkpgvgdv srpfsppihs sspppiapla raestssiss tnslsaattp tveneqpslv
      361 wfdrgkfylt fegssrgpsp ltmgaqdtlp vaaaftetvn ayfkgadpsk civkitgemv
      421 lsfpagitrh fannpspaal tfrvinfsrl ehvlpnpqll ccdntqndan tkefwvnmpn
      481 lmthlkkvse qkpqatyynv dmlkyqvsaq giqstplnla vnwrcepsst dlridykynt
      541 damttavaln nvqflvpidg gvtklqavlp pavwnaeqqr ilwkipdisq ksenggvgsl
      601 larfqlsegp skpsplvvqf tsegstlsgc dielvgagyr fslikkrfaa gkyladn
//
LOCUS       XP_054220462             980 aa            linear   PRI 20-MAR-2023
DEFINITION  nebulette isoform X2 [Homo sapiens].
ACCESSION   XP_054220462
VERSION     XP_054220462.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364487.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..980
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..980
                     /product="nebulette isoform X2"
                     /calculated_mol_wt=112402
     CDS             1..980
                     /gene="NEBL"
                     /gene_synonym="bA165O3.1; C10orf113; LASP2; LNEBL"
                     /coded_by="XM_054364487.1:107..3049"
                     /db_xref="GeneID:10529"
                     /db_xref="HGNC:HGNC:16932"
                     /db_xref="MIM:605491"
ORIGIN      
        1 mrvpvfedik deteeekige eeneedqvfy kpviedlsme larkctelis dirykeefkk
       61 skdkctfvtd spmlnhvkni gafiseakyk gtikadlsns lykrmpatid svfagevtql
      121 qsevaykqkh daakgfsdya hmkeppevkh amevnkhqsn aeykkgqgim nkepavigrp
      181 dfehaveask lssqikykek fdnemkdkkh hynplesasf rqnqlaatla snvkykkdiq
      241 nmhdpvsdlp nllfldhvlk askmlsgrey kklfeenkgm yhfdadaveh lhhkgnavlq
      301 sqvkykeeye knkgkpmlef vetpsyqask eaqkmqsekv ykedfekeik grssldldkt
      361 peflhvkyit nllrekeykk dleneikgkg melnsevldi qrakrasema sekeykkdle
      421 siikgkgmqa gtdtlemqha kkaaeiasek dykrdletei kgkgmqvstd tldvqrakka
      481 semasqkqyk kdleneikgk gmqvsmdipd ilrakrtsei ysqrkykdea ekmlsnysti
      541 adtpeiqrik ttqqnisavf ykkevgagta vkdspeierv kknqqnissv kykeeikhat
      601 aisdppelkr vkenqknisn lqykeqnyka tpvsmtpeie rvrrnqeqls avkykgelqr
      661 gtaisdppel krakenqkni snvyyrgqlg rattlsvtpe mervkknqen issvkytqdh
      721 kqmkgrpsli ldtpamrhvk eaqnhismvk yhedfektkg rgftpvvddp vtervrkntq
      781 vvsdaaykgv hphivemdrr pgiivdlkvw rtdpgsifdl dpledniqsr slhmlsekas
      841 hyrrhwsrsh ssstfgtglg ddrseiseiy psfsccsevt rpsdegapvl pgayqqshsq
      901 gygymhqtsv ssmrsmqhsp nlrtyramyd ysaqdedevs frdgdyivnv qpiddgwmyg
      961 tvqrtgrtgm lpanyiefvn
//
LOCUS       XP_054220814             349 aa            linear   PRI 20-MAR-2023
DEFINITION  cAMP-responsive element modulator isoform X3 [Homo sapiens].
ACCESSION   XP_054220814
VERSION     XP_054220814.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364839.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..349
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..349
                     /product="cAMP-responsive element modulator isoform X3"
                     /calculated_mol_wt=37497
     CDS             1..349
                     /gene="CREM"
                     /gene_synonym="CREM-2; hCREM-2; ICER"
                     /coded_by="XM_054364839.1:403..1452"
                     /db_xref="GeneID:1390"
                     /db_xref="HGNC:HGNC:2352"
                     /db_xref="MIM:123812"
ORIGIN      
        1 mskcarkkyi ktnprqmtme tvesqhdgsi tasltesksa hvqtqtgqns ipalaqvsva
       61 gsgtrrgspa vtlvqlpsgq tihvqgviqt pqpwviqsse ihtvqvaaia etdesaeseg
      121 vidshkrrei lsrrpsyrki lnelssdvpg vpkieeerse eegtppsiat mavptsiyqt
      181 stgqyiaiaq ggtiqisnpg sdgvqglqal tmtnsgappp gativqyaaq sadgtqqffv
      241 pgsqvvvqaa tgdmptyqir aptaalpqgv vmaaspgslh spqqlaeeat rkrelrlmkn
      301 reaakecrrr kkeyvkcles rvavlevqnk klieeletlk dicspktdy
//
LOCUS       XP_054226662             236 aa            linear   PRI 20-MAR-2023
DEFINITION  actin, aortic smooth muscle-like [Homo sapiens].
ACCESSION   XP_054226662
VERSION     XP_054226662.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370687.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..236
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..236
                     /product="actin, aortic smooth muscle-like"
                     /calculated_mol_wt=26334
     CDS             1..236
                     /gene="LOC124902707"
                     /coded_by="XM_054370687.1:461..1171"
                     /db_xref="GeneID:124902707"
ORIGIN      
        1 mekiwhhsfy qvlhvapeqy pmlvtepsln ptpskekvtq vlfeifnipa lylanrgvls
       61 lyasgqtfgm tvesgegmth fvpiadgcpl hqstfqvdia gqdltsyllq llkdnvqllv
      121 gtgdreyird mkekccyval dfdkekmktd spscqqkyql pdgqeitvgq esffcpegkt
      181 plastrrpsr aslpatptsr rfslatcycp egrapapacd sgcrekylsw cplqfm
//
LOCUS       XP_054227230             291 aa            linear   PRI 20-MAR-2023
DEFINITION  lamin tail domain-containing protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_054227230
VERSION     XP_054227230.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371255.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..291
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..291
                     /product="lamin tail domain-containing protein 1 isoform
                     X4"
                     /calculated_mol_wt=32040
     CDS             1..291
                     /gene="LMNTD1"
                     /gene_synonym="IFLTD1; LMNARS1; PAS1C1"
                     /coded_by="XM_054371255.1:352..1227"
                     /db_xref="GeneID:160492"
                     /db_xref="HGNC:HGNC:26683"
                     /db_xref="MIM:617254"
ORIGIN      
        1 mkdtqdiqea skamqnkvhe qedknekqkq redklgvysl vhfspkmlgs vattlplsss
       61 nssgmplgyy lsspqisrvt isttgqltsk atvgscsrve nsldaspfsv pkkqdespmi
      121 gdgedyflsl fgdskkltah snytqktlky fsmileevgq ftssslgdve iaevnvkglf
      181 vklinssldk emaigdhilq qnvngqtisl yrflpnivmq anstvtvwaa aseakhqpps
      241 dflwkeqdkf raspdcitil ckpngqsfwg smwclvtwit mlsngralis s
//
LOCUS       XP_054227274             539 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 63 isoform X2 [Homo sapiens].
ACCESSION   XP_054227274
VERSION     XP_054227274.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371299.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..539
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..539
                     /product="coiled-coil domain-containing protein 63 isoform
                     X2"
                     /calculated_mol_wt=63047
     CDS             1..539
                     /gene="CCDC63"
                     /gene_synonym="ODA5"
                     /coded_by="XM_054371299.1:216..1835"
                     /db_xref="GeneID:160762"
                     /db_xref="HGNC:HGNC:26669"
                     /db_xref="MIM:617969"
ORIGIN      
        1 msvlkknrrk dsdtpqepse kakeqqaeae lrklrqqfrk mvesrksfkf rnqqkiasqy
       61 keiktlkteq deitlllslm kssrnmnrse knymelrlll qtkedyeali kslkvllael
      121 dekilqmekk ianqkqifak mqeannprkl qkqihiletr lnlvtvhfdk mlttnaklrk
      181 eiedlrfeka aydnvyqqlq hcllmekktm nlaieqssqa yeqrveamar maamkdrqkk
      241 dtsqynleir elerlyahes klksfllvkl ndrnefeeqa kreealkakk hvkknrgesf
      301 esyevahlrl lklaesgnln qliedflake eknfarftyv telnndmemm hkrtqriqde
      361 iillrsqqkl shddnhsvlr qledklrktt eeadmyesky gevsktldll knsveklfkk
      421 incdatkilv qlgetgkvtd inlpqyfaii ekktndllll etyrrileve gaeaeipppf
      481 inpfwggsal lkppepikvi ppvlgadpfs drlddvlwrd akpglapalg lisqhltqi
//
LOCUS       XP_054228570             613 aa            linear   PRI 20-MAR-2023
DEFINITION  basic helix-loop-helix ARNT-like protein 2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054228570
VERSION     XP_054228570.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372595.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..613
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..613
                     /product="basic helix-loop-helix ARNT-like protein 2
                     isoform X2"
                     /calculated_mol_wt=68018
     CDS             1..613
                     /gene="BMAL2"
                     /gene_synonym="ARNTL2; bHLHe6; CLIF; MOP9; PASD9"
                     /coded_by="XM_054372595.1:238..2079"
                     /db_xref="GeneID:56938"
                     /db_xref="HGNC:HGNC:18984"
                     /db_xref="MIM:614517"
ORIGIN      
        1 maaeeeaaag gevaggeata pgkvlreenq ciapvvssrv spgtrptamg sfsshmtefp
       61 rkrkgsdsdp sqvedgehqv kmkafreahs qtekrrrdkm nnlieelsam ipqcnpmark
      121 ldkltvlrma vqhlrslkgl tnsyvgsnyr psflqdnelr hlilktaegf lfvvgcergk
      181 ilfvsksvsk ilnydqaslt gqslfdflhp kdvakvkeql ssfdisprek lidaktglqv
      241 hsnlhagrtr vysgsrrsff criksckisv keehgclpns kkkehrkfyt ihctgylrsw
      301 ppnivgmeee rnskkdnsnf tclvaigrlq pyivpqnsge invkptefit rfavngkfvy
      361 vdqratailg ylpqellgts cyeyfhqddh nnltdkhkav lqskekiltd sykfrakdgs
      421 fvtlksqwfs ftnpwtkele yivsvntlvl ghsepgeasf lpcssqssee ssrqscmsvp
      481 gmstgtvlga gsigtdiane ildlqrlqss sylddssptg lmkdthtvnc rsmsnkelfp
      541 pspsemgele atrqnqstva vhshepllsd gaqldfdalc dnddtamaaf mnyleaeggl
      601 gdpgdfsdiq wtl
//
LOCUS       XP_054228890             592 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 15 isoform X4 [Homo sapiens].
ACCESSION   XP_054228890
VERSION     XP_054228890.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372915.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..592
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..592
                     /product="TBC1 domain family member 15 isoform X4"
                     /calculated_mol_wt=68427
     CDS             1..592
                     /gene="TBC1D15"
                     /gene_synonym="RAB7-GAP"
                     /coded_by="XM_054372915.1:390..2168"
                     /db_xref="GeneID:64786"
                     /db_xref="HGNC:HGNC:25694"
                     /db_xref="MIM:612662"
ORIGIN      
        1 mvntvsfkrk phtngdapsh rngkskwsfl fsltdlksik qnkegmgwsy lvfclkddvv
       61 lpalhfhqgd skllieslek yvvlcespqd krtllvncqn kslsqsfenl ldepaygliq
      121 aglldrrkll waihhwkkik kdpytatmig fskvtnyifd slrgsdpsth qrppsemadf
      181 lsdaipglki nqqeepgfev itridlgerp vvqrrepvsl eewtknidse grilnvdnmk
      241 qmifrgglsh alrkqawkfl lgyfpwdstk eertqlqkqk tdeyfrmklq wksisqeqek
      301 rnsrlrdyrs liekdvnrtd rtnkfyegqd npglillhdi lmtycmydfd lgyvqgmsdl
      361 lspllyvmen evdafwcfas ymdqmhqnfe eqmqgmktql iqlstllrll dsgfcsyles
      421 qdsgylyfcf rwllirfkre fsfldilrlw evmwtelpct nfhlllccai lesekqqime
      481 khygfneilk hinelsmkid vedilckaea islqmvkcke lpqavceilg lqgsevttpd
      541 sdvgedenvv mtpcptsafq snalptlsas garndsptqi pvssdvcrlt pa
//
LOCUS       XP_054231438             189 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ABHD12B isoform X3 [Homo sapiens].
ACCESSION   XP_054231438
VERSION     XP_054231438.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375463.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 5% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..189
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..189
                     /product="protein ABHD12B isoform X3"
                     /calculated_mol_wt=20239
     CDS             1..189
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /coded_by="XM_054375463.1:123..692"
                     /db_xref="GeneID:145447"
                     /db_xref="HGNC:HGNC:19837"
ORIGIN      
        1 mdaqdcqaaa speppgppar scvaawwdmv drnlrhtvps crgedakgkd ccwyeaalrd
       61 gnpiivylhg saehraashr lklvkvlsdg gfhvlsvdyr gfgdstgkpt eeglttdaic
      121 vyewtkarsg itpvclwghs lgtgvatnaa kvleekgcpv daivleapft nmwvasinyp
      181 llkvsaqma
//
LOCUS       XP_054232815            1602 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger homeobox protein 2 isoform X6 [Homo sapiens].
ACCESSION   XP_054232815
VERSION     XP_054232815.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376840.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1602
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1602
                     /product="zinc finger homeobox protein 2 isoform X6"
                     /calculated_mol_wt=170745
     CDS             1..1602
                     /gene="ZFHX2"
                     /gene_synonym="MARSIS; ZFH-5; ZFH5; ZNF409"
                     /coded_by="XM_054376840.1:407..5215"
                     /db_xref="GeneID:85446"
                     /db_xref="HGNC:HGNC:20152"
                     /db_xref="MIM:617828"
ORIGIN      
        1 mswllsrqvy ccpycsflsp essqvrahtl sqhavqpkyr cplcqeqlvg rpalhfhlsh
       61 lhnvvpecve klllvattve mtfttkvlsa ptlspldngq eppthgpept psrdqaaegp
      121 nltpeaspdp lpepplasve vpdkpsgspg qppspapspv pepdaqaedv appptmaeee
      181 egttgelrsa epapadsrhp ltyrkttnfa ldkfldparp ykctvckesf tqknillvhy
      241 nsvshlhkmk kaaidpsapa rgeagapptt taatdkpfkc tvcrvsynqs stleihmrsv
      301 lhqtrsrgtk tdskiegper sqeepkeget egevgtekkg pdtsgfisgl pflspppppl
      361 dlhrfpaplf tppvlppfpl vpesllklqq qqlllpfylh dlkvgpkltl agpapvlslp
      421 aatpppppqp pkaelaerew erppmakegn eagpssppdp lpneaartaa kallenfgfe
      481 lviqynegkq avpppptppp pealgggdkl acgacgklfs nmlilkthee hvhrrflpfe
      541 alsryaaqfr ksydslyppl aeppkppdgs ldspaphlgp pflvpepeag gtrapeersr
      601 agghwpieee essrgnlppl vpagrrfsrt kftefqtqal qsffetsayp kdgeverlas
      661 llglasrvvv vwfqnarqka rknaceggsm ptgggtggas gcrrchatfs cvfelvrhlk
      721 kcyddqtlee eeeeaergee eeeveeeeve eeqgleppag pegplpeppd geelsqaeat
      781 kaggkepeek atpspspaht cdqcaisfss qdlltshrrl hflpslqpsa ppqlldlpll
      841 vfgernplva atspmpgppl krkhedgsls ptgseagggg egepprdkrl rttilpeqle
      901 ilyrwymqds nptrkmldci seevglkkrv vqvwfqntra rerkgqfrst pggvpspavk
      961 ppatatpasl pkfnlllgkv ddgtgreapk reapafpypt atlasgpqpf lppgkeattp
     1021 tpepplpllp ppppseeegp eeppkaspes eacslsagdl sdssasslae pespgaggts
     1081 ggpgggtgvp dgmgqrryrt qmsslqlkim kacyeayrtp tmqecevlge eiglpkrviq
     1141 vwfqnarake kkaklqgtaa gstggsregl laaqrtdcpy cdvkydfyvs crghlfsrqh
     1201 laklkeavra qlkseskcyd lapapeappa lkappattpa smplgaaptl prlapvllsg
     1261 palaqpplgn lapfnsgpaa ssgllglats vlptttvvqt agpgrplpqr pmpdqtntst
     1321 agttdpvpgp pteplgdkvs serkpvagpt sssndalknl kalkttvpal lggqflpfpl
     1381 ppaggtappa vfgpqlqgay fqqlygmkkg lfpmnpmipq tligllpnal lqpppqppep
     1441 tatappkppe lpapgegeag evdelltgst gistvdvthr ylcrqckmaf dgeapatahq
     1501 rsfcffgrgs ggsmppplrv pictyhclac evllsgreal ashlrssahr rkaappqggp
     1561 pisitnaata asaavafake earlphtdsn pkttttstll al
//
LOCUS       XP_054234102             583 aa            linear   PRI 20-MAR-2023
DEFINITION  myelin expression factor 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054234102
VERSION     XP_054234102.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378127.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..583
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..583
                     /product="myelin expression factor 2 isoform X1"
                     /calculated_mol_wt=62456
     CDS             1..583
                     /gene="MYEF2"
                     /gene_synonym="HsT18564; MEF-2; MST156; MSTP156; myEF-2"
                     /coded_by="XM_054378127.1:59..1810"
                     /db_xref="GeneID:50804"
                     /db_xref="HGNC:HGNC:17940"
                     /db_xref="MIM:619395"
ORIGIN      
        1 madankaevp gatggdsphl qpaeppgepr rephpaeaek qqpqhssssn gvkmendesa
       61 keeksdlkek stgskkanrf hpyskdknsg tgekkgpnrn rvfisnipyd mkwqaikdlm
      121 rekvgevtyv elfkdaegks rgcgvvefkd eefvkkalet mnkydlsgrp lnikedpdge
      181 narralqrtg gsfpgghvpd mgsglmnlpp silnnpnipp evisnlqagr lgstifvanl
      241 dfkvgwkklk evfsiagtvk radikedkdg ksrgmgtvtf eqaieavqai smfngqflfd
      301 rpmhvkmddk svpheeyrsh dgktpqlprg lggigmglgp ggqpisasql niggvmgnlg
      361 pggigfggle amnsmggfgg vgrmgelyrg amtssmerdf grgdiginrg fgdsfgrlgs
      421 amiggfagri gssnmgpvgs gisggmgsmn svtggmgmgl drmsssfdrm gpgigailer
      481 sidmdrgfls gpmgsgmrer igskgnqifv rnlpfdltwq klkekfsqcg hvmfaeikme
      541 ngkskgcgtv rfdspesaek acrimngiki sgreidvrld rna
//
LOCUS       XP_054236089             429 aa            linear   PRI 20-MAR-2023
DEFINITION  glycine rich extracellular protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054236089
VERSION     XP_054236089.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380114.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..429
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..429
                     /product="glycine rich extracellular protein 1 isoform X1"
                     /calculated_mol_wt=43422
     CDS             1..429
                     /gene="GREP1"
                     /gene_synonym="G029442; LA16c-380H5.1; LA16c-380H5.3;
                     LINC00514"
                     /coded_by="XM_054380114.1:112..1401"
                     /db_xref="GeneID:283875"
                     /db_xref="HGNC:HGNC:27549"
ORIGIN      
        1 mgrgvkplkt gvpalscvpv lhsphthirp clcfllllgl prsgdgngmg agaflgagaq
       61 pgynngngpg tqpgpaaqng fgpgfggggk pqkpgpttqn gyrpgyvgav kpqkpgfqyr
      121 iglgaqpgeg gfrgdmkaqe pvltaqnrfg fgaglggnvk plkpgygkrl ragafpgagt
      181 qpeyghgngp gvqpglgagm kpqmpglgap ngygpgrgra gvpggperrp wvphllpfss
      241 pgylgvmkaq kpgagegmkp qkpgytpgtw lgllpglrgt lkpqksghgh engpwpgpcn
      301 arvapmllpr lptpgvpsdk eggwglksqp psavqngklp ghqppngygp gaepgfnggl
      361 epqkigqagv lwnsrwptlq awgaglkpgy qagdeyaear sqpggpdvkr gsngqlgngy
      421 ggrcplgkc
//
LOCUS       XP_054236568             536 aa            linear   PRI 20-MAR-2023
DEFINITION  protein BANP isoform X1 [Homo sapiens].
ACCESSION   XP_054236568
VERSION     XP_054236568.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380593.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..536
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..536
                     /product="protein BANP isoform X1"
                     /calculated_mol_wt=58371
     CDS             1..536
                     /gene="BANP"
                     /gene_synonym="BEND1; SMAR1; SMARBP1"
                     /coded_by="XM_054380593.1:540..2150"
                     /db_xref="GeneID:54971"
                     /db_xref="HGNC:HGNC:13450"
                     /db_xref="MIM:611564"
ORIGIN      
        1 mmsehdladv vqiavedlsp dhpgtelwdi vlenhvvtde depalkrqrl eincqdpsik
       61 sflysinqti clrldsieak lqaleatcks leekldlvtn kqhspiqvpm vagsplgatq
      121 tcnkvrcvvp qttvilnndr qnaivakmed plsnrapdsl envisnavpg rrqntivvkv
      181 pgqedshhed gesgseasds vsscgqagsq sigsnvtlit lnseedypng twlgdennpe
      241 mrvrcaiips dmlhistncr taekmaltll dylfhrevqa vsnlsgqgkh gkkqldplti
      301 ygirchlfyk fgitesdwyr ikqsidskcr tawrrkqrgq slavksfsrr tpnsssycps
      361 epmmstpppa selpqpqpqp qalhyalana qqvqihqige dgqvqvipqg hlhiaqvpqg
      421 eqvqitqdse gnlqihhvgq dgqlleatri pcllapsvfk assgqvlqga qliavassdp
      481 aaagvdgspl qgsdiqvqyv qlapvsdhta gaqtaealqp tlqpemqleh gaiqiq
//
LOCUS       XP_054171169             481 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphoinositide 3-kinase regulatory subunit 6 isoform X16 [Homo
            sapiens].
ACCESSION   XP_054171169
VERSION     XP_054171169.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315194.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..481
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..481
                     /product="phosphoinositide 3-kinase regulatory subunit 6
                     isoform X16"
                     /calculated_mol_wt=52909
     CDS             1..481
                     /gene="PIK3R6"
                     /gene_synonym="C17orf38; HsT41028; p84 PIKAP; p87(PIKAP);
                     p87PIKAP"
                     /coded_by="XM_054315194.1:257..1702"
                     /db_xref="GeneID:146850"
                     /db_xref="HGNC:HGNC:27101"
                     /db_xref="MIM:611462"
ORIGIN      
        1 melsgnsgke lvlflrprsq lrlsadlevl dlqglrpdre larvsvlstd sgierdlptg
       61 adelpapgsp emeraglqrk ggikkrawpl dflmpgswdg ppglhrrtgr psgdgemlpg
      121 vsrlhtarvl vlgddrmlgr laqayhrlrk retqkfcltp rlslqlyyip vlapekpaas
      181 rqpelgelat flgrvdpwyq snvntlcpai hklaemppsl dtsrtvdpfi ldvityyirm
      241 gtqpiyfqiy tvkiffsdls qdptedifli elkvkiqdsk fpkdgfsprr rgvaegpgae
      301 lslcyqkall shrprevtvs lratglilka ipasdtedsd qhlqdeqypd pepgpeaadt
      361 vagqgrsthf qgcgqirgcs lprtmfwgpe vqgtvaqfaw atgggsnqsq aqapsdahqh
      421 ilwycpvslq gqqaqeegyt tpptpnthtn sqskarlhta alaltrsqrv pgstgslpwg
      481 l
//
LOCUS       XP_054172390             472 aa            linear   PRI 20-MAR-2023
DEFINITION  luc7-like protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054172390
VERSION     XP_054172390.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316415.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..472
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..472
                     /product="luc7-like protein 3 isoform X1"
                     /calculated_mol_wt=56254
     CDS             1..472
                     /gene="LUC7L3"
                     /gene_synonym="CRA; CREAP-1; CROP; hLuc7A; LUC7A; OA48-18"
                     /coded_by="XM_054316415.1:131..1549"
                     /db_xref="GeneID:51747"
                     /db_xref="HGNC:HGNC:24309"
                     /db_xref="MIM:609434"
ORIGIN      
        1 misaaqllde lmgrdrnlap dekrsnvrwd hesvckyylc gfcpaelftn trsdlgpcek
       61 ihdenlrkqy ekssrfmkvg yerdflrylq sllaeverri rrgharlals qnqqssgaag
      121 ptgkneekiq vltdkidvll qqieelgseg kveeaqgmmk lveqlkeere llrsttstie
      181 sfaaqekqme vcevcgafli vgdaqsrvdd hlmgkqhmgy akikatveel keklrkrtee
      241 pdrderlkke kqereereke rerereerer krrreeeere kerardrerr krsrsrsrhs
      301 srtsdrrcsr srdhkrsrsr errrsrsrdr rrsrshdrse rkhrsrsrdr rrsksrdrks
      361 ykhrsksrdr eqdrkskeke krgsddkkss vksgsrekqs edtnteskes dtknevngts
      421 ediksevqrk yaqmkmelsr vrrhtkasse gkdsvvlqni lrttvrrfle ey
//
LOCUS       XP_054175436             151 aa            linear   PRI 20-MAR-2023
DEFINITION  glutamate-rich protein 4 isoform X1 [Homo sapiens].
ACCESSION   XP_054175436
VERSION     XP_054175436.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319461.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..151
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..151
                     /product="glutamate-rich protein 4 isoform X1"
                     /calculated_mol_wt=16698
     CDS             1..151
                     /gene="ERICH4"
                     /gene_synonym="C19orf69"
                     /coded_by="XM_054319461.1:15..470"
                     /db_xref="GeneID:100170765"
                     /db_xref="HGNC:HGNC:34497"
ORIGIN      
        1 melwrqlnqa glvppglgpp pqalrevspv eipgqtlrta gadtggacds llwireelvl
       61 erplalwggi pvtspsywqg nlrrvdvqll gqlcslglem galreelvti leeeeesske
      121 eeedqepqrk qeeehleacp aphppdfemm i
//
LOCUS       XP_054196860             165 aa            linear   PRI 20-MAR-2023
DEFINITION  deoxyguanosine kinase, mitochondrial isoform X3 [Homo sapiens].
ACCESSION   XP_054196860
VERSION     XP_054196860.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340885.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..165
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..165
                     /product="deoxyguanosine kinase, mitochondrial isoform X3"
                     /calculated_mol_wt=18537
     CDS             1..165
                     /gene="DGUOK"
                     /gene_synonym="dGK; MTDPS3; NCPH; NCPH1; PEOB4"
                     /coded_by="XM_054340885.1:32..529"
                     /db_xref="GeneID:1716"
                     /db_xref="HGNC:HGNC:2858"
                     /db_xref="MIM:601465"
ORIGIN      
        1 maagrlflsr lrapfssmak splegvsssr glhagrgprr lsiegniavg kstfvklltk
       61 typewhvate pvatwqniqa agtqkvclkr lyqrareeek gielayleql hgqheawlih
      121 kttklhfeal mnipvlvldv nddfseevtk qedlmrevnt fvknl
//
LOCUS       XP_054197859            1831 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 36A isoform X30 [Homo
            sapiens].
ACCESSION   XP_054197859
VERSION     XP_054197859.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341884.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1831
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1831
                     /product="ankyrin repeat domain-containing protein 36A
                     isoform X30"
                     /calculated_mol_wt=204558
     CDS             1..1831
                     /gene="ANKRD36"
                     /gene_synonym="UNQ2430"
                     /coded_by="XM_054341884.1:588..6083"
                     /db_xref="GeneID:375248"
                     /db_xref="HGNC:HGNC:24079"
                     /db_xref="MIM:620262"
ORIGIN      
        1 medgkrerwp tlmerlcsdg fafpqypikp yhlkrihrav lhgnleklky llltyydank
       61 rdrkertalh lacatgqpem vhllvsrrce lnlcdredrt plikavqlrq eacatlllqn
      121 ganpnitdff grtalhyavy nedtsmiekl lshgtnieec skceyqpllf avsrrkvkmv
      181 efllkkkanv naidylgrsa lihavtlgek divilllqhn idvlsrdafr kiagdyaiea
      241 knrvifdliy eyerkryedl pinsnpvssq kqpalkatsg kedsisniat eikdgqksgt
      301 vssqkqpalk dtsdkddsvs ntateikdeq ksgtvlpave qclnrslyrp davaqpvten
      361 efsleseiis klyipkrkii sprsikdvlp pveeavdrcl ylldrfaqpv tkdkfalese
      421 nisepyftnr rtisqqsaen ldaacgidkt engnmfedqn vdkegkalpa tgqkanvspe
      481 qpplfthtvk drdhistrfl ggmdsltsse esserpplst ltlkeadpss kaamrrkdsp
      541 ppgkvssqkq paekatsddk dsvsniatei kegpisgtvs sqkqpaekat sdekdsvsni
      601 ateikkgqqs gtvspqkqsa wkvifkkkvs llniatrimg ggksgtvssq kqpaskatsd
      661 ktdsalniat eikdglqcgt vssqkqpalk attdeedsvs niateikdge ksgtvssqkq
      721 palkattdee dsvsniatei kdgeksgtvs sqkqpalkat tdekdsvsni ateikdgeks
      781 gtvssqkppa ltatsdeegs vlsiarenkd geksrtvssr kkpalkatsd ekdsfsnitr
      841 gkkdgeisrk vssqkpptlk gtsdeedsvl giarenkdge ksrtvssekp pglkassaek
      901 dsvlniargk kdgektkrvs srkkpsleat sdekdsfsni trekkdgeis rkvssqkppa
      961 lkgtsdeeds vlgiarenkd geksrtvsse kppglkatsd ekdsvlniar gkkdgektrt
     1021 vssqkpptlk atsdeedsvl siarenkdge ksrtvssekp sglkatsdek dsvlyiarek
     1081 kdgeksrtvs spkqpalkai cdkedsvpnm atekkdeqis gtvssqkqpa lkatsdkkds
     1141 vsnipteikd gqqsgtvssq kqpawkatsv kkdsvsniat eikdgqirgt vspqkqsaqk
     1201 vifkkkvsll niatritggw ksgteypenl ptlkatienk nsvlntatkm kdvqtstpeq
     1261 dlemasegeq krleeyennq pqvknqihsr ddlddiiqss qtvsedgdsl ccncknvill
     1321 idqhemkckd cvhllkiknt fclwkrlikl kdnhceqlrv kirklknkas vlqkriseke
     1381 eiksqlkhei lelekelcsl rfaiqqekkk rrnveevhqk vreklritee qyrieadvtk
     1441 pikpalksae velktggnns nqvsetdeke dllhenrlmq deiarlrlek dtiknqnlek
     1501 kylkdfeivk rkhedlqkal krngetlakt iacysgqlaa ltdenttlrs klekqresrq
     1561 rletemqsyh crlnaarcdh dqshsskrdq elafqgtvdk crhlqenlns hvlilslqls
     1621 kaesksrvlk telhytgeal kekalvfehv qselkqkqsq mkdiekmyks gyntmekcie
     1681 kqerfcqlkk qnmllqqqld darnkadnqe kailniqarc darvqnlqae crkhrlllee
     1741 dnkmlvneln hskekecqye kekaerevav rqlqqkrddv lnkgsatkal ldassrhcty
     1801 lengmqdsrk kldqmrsqvc mqlctpttvn l
//
LOCUS       XP_054199433            2598 aa            linear   PRI 20-MAR-2023
DEFINITION  neurobeachin-like protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054199433
VERSION     XP_054199433.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343458.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2598
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2598
                     /product="neurobeachin-like protein 1 isoform X3"
                     /calculated_mol_wt=295384
     CDS             1..2598
                     /gene="NBEAL1"
                     /gene_synonym="A530083I02Rik; ALS2CR16; ALS2CR17"
                     /coded_by="XM_054343458.1:108..7904"
                     /db_xref="GeneID:65065"
                     /db_xref="HGNC:HGNC:20681"
                     /db_xref="MIM:609816"
ORIGIN      
        1 madqtcieef vihalafces lydpyrnwrh risgrilstv eksrqkykpa sltvefvpff
       61 yqcfqesehl keslkccllh lfgaivaggq rnalqaispa tmevlmrvla dcdswedgdp
      121 eevgrkaelt lkcltevvhi llssnsdqrq vetstileny fkllnsdhsa lpnqrrsrqw
      181 enrfialqik mlntitamld ctdrpvlqai flnsncfehl irllqncklf lnannkvadk
      241 nekdlankll temnedqvfq gqldclaist iqaltavmnk spaakevfke rigythmlev
      301 lkslgqpple llkelmnmav egdhtsvgil gisnvqplll liqwlpelqs hdlqifisdw
      361 lkriccinrq srttcvnanm giriietldl hsslhqtcae nliaihgslg sqsvsseeir
      421 rllrllrvde sesvhpyvtp vtrailtmar klslesalqy fnlshsmagi svppiqkwpg
      481 safsfsawfc ldqdqltlgi ankggkrkql ysfftgsgmg feafithsgm lvvavctkre
      541 yatvmlpdhs fcdslwhnit vvhmpgkrpf gqsfvyiydn gqqkvsaplr fpamnepfts
      601 ccigsagqrt ttpppsqipd ppfsspitph rtsfggilss aswggtieks klitklisag
      661 tqdsewgcpt slegqlgsvi ifyeplqppq vkalylagpn clspwkcqes dmadlpgnil
      721 lyytakackn sicldlstnc lhgrltgnkv vnwdikdiin cigglnvlfp lleqishfse
      781 gqipeeknes tvpesvtpve gdwlvwtstk asesrlernl vatfilivkh fiqrhpinqg
      841 nlihshgvat lgallqkvps tlmdvnvlma vqllieqvsl eknmqllqqm yqyllfdfri
      901 wnrgdfpfri ghiqylstii kdsrrvfrkk ygvqflldtl riyygngcky nelslddirt
      961 irtslyglik yflckggshe eiqsimgyia atneeeqlfg ildvlfsllr tsptrgqlfl
     1021 llfepgnadi lyalllnqky sdrlreiifk imeqmlkctn vyerskqhir lrevgysglg
     1081 lllnealvnt sliknlthqi intdpvinfk dllsvvyish rahinvrvai crkvlqilqf
     1141 qpdaahqisq qvgwqdtlvr lflkakfeng ntlhkhsrav lmkdndknms tedtkknsde
     1201 ktdeekitsf asanvssdqw sledrhslds ntplfpedss vgelsfksen qeefwhsnps
     1261 hlsldlsgid scemsdsgsq vpdslpstps pvestksfsv hsdressitn dmgfsddfsl
     1321 lesqerceee llqllthiln yvmckgleks dddtwiergq vfsalskpgi ssellrpsde
     1381 ikltllqkml ewaisenrea ktnpvtaena frlvliiqdf lqseglvnsn mwteklledm
     1441 mllfdclsvc ysespvwvkl sqiqiqlllg figrgnlqvc amasaklntl lqtkvienqd
     1501 eacyilgkle hvlsqsikeq teiysflipl vrtlvskiye llfmnlhlps lpftngsssf
     1561 fedfqeycns newqvyieky ivpymkqyea htfydghenm alywkdcyea lmvnmhkrdr
     1621 eggesklkfq elfvepfnrk arqenlrynn mlkqlssqql atlrrwkaiq lyltcergpw
     1681 akrkqnpihw klanvenysr mrlklvpnyn fktheeasal rdnlgiqhsq pssdtlllev
     1741 vkqvkvsdmv edkldlpeed itarvnvdek eeqdqkeklv lmedceliti idvipgrlei
     1801 ttqhiyfydg siekedgvgf dfkwphsqir eihlrrynlr rsaleifhvd qsnyflnfkk
     1861 evrnkiysrl lslhspnsyy gsrspqelfk asgltqkwvn reisnfdyli qintmagrty
     1921 ndlaqypvfp wilqdytsee ldlnnpavfr dlskpigvvn eknakamrek yenfedpmgt
     1981 idkfhygthy snsagvmhyl irvepfttlh iqlqsgrfdc adrqfhsipa twqalmdnpy
     2041 dvkelipeff yfpeflenqn qfnlgrlqis kelvndvilp kwaksaedfi ykhrkalese
     2101 yvsahlhewi dlifgykqrg paavealnvf yycsyegavd ldaltdeker kalegminnf
     2161 gqtpcqllke phpprlsaee avqkptkidt stlnlfqhlp elksffiegi sdgipllkat
     2221 vpknqyrsfm sqgspellit ismnyvigth gwlpydrnis nyftfikdqt vtnpktqrsi
     2281 ngsfapglei tsklfvvshd akllfsagyw dnsiqvmslt kgkiishiir hmdivtclat
     2341 dycgihlisg srdttcmiwq itqqggvpvg laskpfqily ghanevlsvg isteldmavs
     2401 gsrdgtviih tiqkgqymrt lrppcesslf ltipnlaisw eghivvysst eekttlkdkn
     2461 alhlfsingk ylgsqilkeq vsdiciigeh ivtgsiqgfl sirdlhslnl sinplamrlp
     2521 ihcvcvtkey shilvgledg klivvgvgkp aevkpsisnf ishavgdyfg spsfqlieks
     2581 plginklkak fdfskgsk
//
LOCUS       XP_054200018             926 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box only protein 11 isoform X3 [Homo sapiens].
ACCESSION   XP_054200018
VERSION     XP_054200018.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344043.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..926
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..926
                     /product="F-box only protein 11 isoform X3"
                     /calculated_mol_wt=103383
     CDS             1..926
                     /gene="FBXO11"
                     /gene_synonym="FBX11; IDDFBA; PRMT9; UBR6; UG063H01; VIT1"
                     /coded_by="XM_054344043.1:779..3559"
                     /db_xref="GeneID:80204"
                     /db_xref="HGNC:HGNC:13590"
                     /db_xref="MIM:607871"
ORIGIN      
        1 mnsvraanrr prrvsrprpv qqqqqqppqq pppqppqqqp pqqqpppppq qqqqqqpppp
       61 pppppplpqe rnnvgerddd vpadmvaees gpgaqnspyq lrrktllpkr tacptknsme
      121 gaststtenf ghrakrarvs gksqdlsapa eqylqeklpd evvlkifsyl leqdlcraac
      181 vckrfselan dpilwkrlym evfeytrpmm hpepgkfyqi npeeyehpnp wkesfqqlyk
      241 gahvkpgfae hfysnparyk grenmlyydt iedalggvqe ahfdglifvh sgiytdewiy
      301 iespitmiga apgkvadkvi ientrdstfv fmegsedayv gymtirfnpd dksaqhhnah
      361 hcleitvncs piidhciirs tctvgsavcv sgqgacptik hcnisdcenv glyitdhaqg
      421 iyedneisnn alagiwvknh gnpiirrnhi hhgrdvgvft fdhgmgyfes cnihrnriag
      481 fevkayanpt vvrceihhgq tggiyvhekg rgqfienkiy annfagvwit snsdptirgn
      541 sifngnqggv yifgdgrgli egndiygnal agiqirtnsc pivrhnkihd gqhggiyvhe
      601 kgqgvieene vysntlagvw vttgstpvlr rnrihsgkqv gvyfydnghg vledndiynh
      661 mysgvqirtg snpkirrnki wggqnggilv ynsglgcied neifdnamag vwiktdsnpt
      721 lrrnkihdgr dggicifngg rglleendif rnaqagvlis tnshpilrkn rifdgfaagi
      781 eitnhatatl egnqifnnrf gglflasgvn vtmkdnkimn nqdaiekavs rgqclykiss
      841 ytsypmhdfy rchtcnttdr naicvncikk chqghdvefi rhdrffcdcg agtlsnpctl
      901 agepthdtdt lydsappies ntlqhn
//
LOCUS       XP_054200166             380 aa            linear   PRI 20-MAR-2023
DEFINITION  cytoplasmic protein NCK2 isoform X1 [Homo sapiens].
ACCESSION   XP_054200166
VERSION     XP_054200166.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344191.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..380
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..380
                     /product="cytoplasmic protein NCK2 isoform X1"
                     /calculated_mol_wt=42770
     CDS             1..380
                     /gene="NCK2"
                     /gene_synonym="GRB4; NCKbeta"
                     /coded_by="XM_054344191.1:480..1622"
                     /db_xref="GeneID:8440"
                     /db_xref="HGNC:HGNC:7665"
                     /db_xref="MIM:604930"
ORIGIN      
        1 mteeviviak wdytaqqdqe ldvkknerlw llddsktwwr vrnaanrtgy vpsnyverkn
       61 slkkgslvkn lkdtlglgkt rrktsardas ptpstdaeyp angsgadriy dlnipafvkf
      121 ayvaeredel slvkgsrvtv mekcsdgwwr gsyngqigwf psnyvleevd eaaaespsfl
      181 slrkgaslsn gqgsrvlhvv qtlypfssvt eeelnfekge tmeviekpen dpewwkckna
      241 rgqvglvpkn yvvvlsdgpa lhpahapqis ytgpsssgrf agrewyygnv trhqaecaln
      301 ergvegdfli rdsesspsdf svslkasgkn khfkvqlvdn vycigqrrfh tmdelvehyk
      361 kapiftsehg eklylvralq
//
LOCUS       XP_054179006             202 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C20orf173 isoform X1 [Homo sapiens].
ACCESSION   XP_054179006
VERSION     XP_054179006.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323031.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..202
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..202
                     /product="uncharacterized protein C20orf173 isoform X1"
                     /calculated_mol_wt=23208
     CDS             1..202
                     /gene="C20orf173"
                     /gene_synonym="dJ477O4.4"
                     /coded_by="XM_054323031.1:146..754"
                     /db_xref="GeneID:140873"
                     /db_xref="HGNC:HGNC:16166"
ORIGIN      
        1 mkrwqifvlw vfwvlilwlm tpyldltpes apqekrmylv pqhcdcpwfs sgkcgcpset
       61 lncsschhta dewnwldacs rktmgylmrt resmtsdtvl wwlgmnsgse lgklwrklfk
      121 giprlsvshf dfycgtcvll grpqipqgss lgndidqypv vfrnasdqgs wmqlemllrk
      181 lsdlvwtsda lsdkiledgl vp
//
LOCUS       XP_054201741            1553 aa            linear   PRI 20-MAR-2023
DEFINITION  CLIP-associating protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054201741
VERSION     XP_054201741.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345766.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1553
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1553
                     /product="CLIP-associating protein 2 isoform X3"
                     /calculated_mol_wt=169906
     CDS             1..1553
                     /gene="CLASP2"
                     /coded_by="XM_054345766.1:253..4914"
                     /db_xref="GeneID:23122"
                     /db_xref="HGNC:HGNC:17078"
                     /db_xref="MIM:605853"
ORIGIN      
        1 meprsmeyfc aqvqqkdvgg rlqvgqelll ylgapgaisd leedlgrlgk tvdaltgwvg
       61 ssnyrvslmg leilsafvdr lstrfksyva mvivalidrm gdakdkvrde aqtlilklmd
      121 qvappmyiwe qlasgfkhkn frsregvclc lietlnifga qplvisklip hlcilfgdsn
      181 sqvrdaaila iveiyrhvge kvrmdlykrg ipparlemif akfdevqssg gmilsvckdk
      241 sfddeesvdg nrpssaasaf kvpapktsgn pansarkpgs aggpkvgaga skeggagavd
      301 eddfikaftd vpsiqiyssr eleetlnkir eilsddkhdw dqranalkki rsllvagaaq
      361 ydcffqhlrl ldgalklsak dlrsqvvrea citvahlstv lgnkfdhgae aivptlfnlv
      421 pnsakvmats gcaairfiir hthvprlipl itsnctsksv pvrrrsfefl dlllqewqth
      481 slerhaavlv etikkgihda daearveark tymglrnhfp geaetlynsl epsyqkslqt
      541 ylkssgsvas lpqsdrssss sqeslnrpfs skwstanpst vagrvsagss kasslpgslq
      601 rsrsdidvna aagakahhaa gqsvrsgrlg agalnagsya sledtsdkld gtasedgrvr
      661 aklsaplagm gnakadsrgr srtkmvsqsq pgsrsgspgr vltttalstv ssgvqrvlvn
      721 sasaqkrski prsqgcsrea spsrlsvars sriprpsvsq gcsreasres srdtspvrsf
      781 qplasrhhsr stgalyapev ygasgpgygi sqssrlsssv samrvlntgs dveeavadal
      841 llgdirtkkk parrryesyg mhsdddansd assacsersy ssrngsipty mrqtedvaev
      901 lnrcassnws erkegllglq nllknqrtls rvelkrlcei ftrmfadphg krvfsmflet
      961 lvdfiqvhkd dlqdwlfvll tqllkkmgad llgsvqakvq kaldvtresf pndlqfnilm
     1021 rftvdqtqtp slktvkpalr dqlhsfwssk vkvailkyie tlakqmdpgd finssetrla
     1081 vsrvitwtte pkssdvrkaa qsvlislfel ntpeftmllg alpktfqdga tkllhnhlrn
     1141 tgngtqssmg spltrptprs panwssplts ptntsqntls psafdydten mnsediyssl
     1201 rgvteaiqnf sfrsqedmne plkrdskkdd gdsmcggpgm sdpraggdat dssqtaldnk
     1261 asllhsmpth ssprsrdynp ynysdsispf nksalkeamf dddadqfpdd lsldhsdlva
     1321 ellkelsnhn erveerkial yelmkltqee sfsvwdehfk tillllletl gdkeptiral
     1381 alkvlreilr hqparfknya eltvmktlea hkdphkevvr saeeaasvla tsispeqcik
     1441 vlcpiiqtad ypinlaaikm qtkviervsk etlnlllpei mpgliqgydn sessvrkacv
     1501 fclvavhavi gdelkphlsq ltgskmklln lyikraqtgs ggadpttdvs gqs
//
LOCUS       XP_054204078             777 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-17 receptor C isoform X6 [Homo sapiens].
ACCESSION   XP_054204078
VERSION     XP_054204078.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348103.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..777
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..777
                     /product="interleukin-17 receptor C isoform X6"
                     /calculated_mol_wt=84544
     CDS             1..777
                     /gene="IL17RC"
                     /gene_synonym="CANDF9; IL17-RL; IL17RL"
                     /coded_by="XM_054348103.1:219..2552"
                     /db_xref="GeneID:84818"
                     /db_xref="HGNC:HGNC:18358"
                     /db_xref="MIM:610925"
ORIGIN      
        1 mpvpwfllsl algrspvvls lerlvgpqda thcspvslep wgdeerlrvq flaqqslsla
       61 pvtaatarta lsglsgadgr reergrgksw vclslggsgn tepqkkglsc rlwdsdilcl
      121 pgdivpapgp vlapthlqte lvlrcqketd cdlclrvavh lavhghweep edeekfggaa
      181 dlgveeprna slqaqvvlsf qayptarcvl levqvpaalv qfgqsvgsvv ydcfeaalgs
      241 evriwsytqp ryekelnhtq qlpalpwlnv sadgdnvhlv lnvseeqhfg lslywnqvqg
      301 ppkprwhknl tgpqiitlnh tdlvpclciq vwplepdsvr tnicpfredp rahqnlwqaa
      361 rlrlltlqsw lldapcslpa eaalcwrapg gdpcqplvpp lswenvtvdk vlefpllkgh
      421 pnlcvqqvns seklqlqecl wadslgplkd dvllletrgp qdnrslcale psgctslpsk
      481 astraarlge yllqdlqsgq clqlwdddlg alwacpmdky ihkrwalvwl acllfaaals
      541 lilllkkdha kgwlrllkqd vrsgaaargr aalllysadd sgferlvgal asalcqlplr
      601 vavdlwsrre lsaqgpvawf haqrrqtlqe ggvvvllfsp gavalcsewl qdgvsgpgah
      661 gphdafrasl scvlpdflqg rapgsyvgac fdrllhpdav palfrtvpvf tlpsqlpdfl
      721 galqqprapr sgrlqeraeq vsralqpald syfhppgtpa pgrgvgpgag pgagdgt
//
LOCUS       XP_054206719             170 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-synuclein isoform X1 [Homo sapiens].
ACCESSION   XP_054206719
VERSION     XP_054206719.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350744.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..170
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..170
                     /product="alpha-synuclein isoform X1"
                     /calculated_mol_wt=18266
     CDS             1..170
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /coded_by="XM_054350744.1:226..738"
                     /db_xref="GeneID:6622"
                     /db_xref="HGNC:HGNC:11138"
                     /db_xref="MIM:163890"
ORIGIN      
        1 mdvfmkglsk akegvvaaae ktkqgvaeaa gktkegvlyv gsktkegvvh gvatvaektk
       61 eqvtnvggav vtgvtavaqk tvegagsiaa atgfvkkdql gkkhpkykps krqenvvmfl
      121 vqvkkicfpq vgkpfsflrf fssfffqvka fwrsqypslk varsrvyicn
//
LOCUS       XP_054207680             415 aa            linear   PRI 20-MAR-2023
DEFINITION  casein kinase I isoform X22 [Homo sapiens].
ACCESSION   XP_054207680
VERSION     XP_054207680.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351705.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..415
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..415
                     /product="casein kinase I isoform X22"
                     /calculated_mol_wt=47778
     CDS             1..415
                     /gene="CSNK1G3"
                     /gene_synonym="CKI-gamma 3; CSNK1G3L"
                     /coded_by="XM_054351705.1:642..1889"
                     /db_xref="GeneID:1456"
                     /db_xref="HGNC:HGNC:2456"
                     /db_xref="MIM:604253"
ORIGIN      
        1 menkkkdkdk sddrmarpsg rsghntrgtg ssssgvlmvg pnfrvgkkig cgnfgelrlg
       61 knlytneyva iklepmksra pqlhleyrfy kqlgsgdgip qvyyfgpcgk ynamvlellg
      121 psledlfdlc drtfslktvl miaiqlisrm eyvhsknliy rdvkpenfli grpgnktqqv
      181 ihiidfglak eyidpetkkh ipyrehkslt gtarymsint hlgkeqsrrd dlealghmfm
      241 yflrgslpwq glkadtlker yqkigdtkra tpievlcenf pematylryv rrldffekpd
      301 ydylrklftd lfdrkgymfd yeydwigkql ptpvgavqqd palssnreah qhrdkmqqsk
      361 nqvvsstnge lntddptagr snapitapte vevmdetkcc cffkrrkrkt iqrhk
//
LOCUS       XP_054207828             157 aa            linear   PRI 20-MAR-2023
DEFINITION  PLAC8-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054207828
VERSION     XP_054207828.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351853.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..157
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..157
                     /product="PLAC8-like protein 1 isoform X1"
                     /calculated_mol_wt=17454
     CDS             1..157
                     /gene="PLAC8L1"
                     /coded_by="XM_054351853.1:542..1015"
                     /db_xref="GeneID:153770"
                     /db_xref="HGNC:HGNC:31746"
ORIGIN      
        1 mvglvleeee ewsevkkrek ghvpasavvk qpvrgasgrt titaivqtgg gwstglfsvc
       61 rdrricfcgl fcpmclecdi arhygeclcw pllpgstfal rigtrerhki qgtlcedwla
      121 vhccwafsic qvarelkmrt sqvyeicavp mtkdtlv
//
LOCUS       XP_054207855             509 aa            linear   PRI 20-MAR-2023
DEFINITION  poly(A) RNA polymerase GLD2 isoform X1 [Homo sapiens].
ACCESSION   XP_054207855
VERSION     XP_054207855.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351880.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..509
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..509
                     /product="poly(A) RNA polymerase GLD2 isoform X1"
                     /calculated_mol_wt=58588
     CDS             1..509
                     /gene="TENT2"
                     /gene_synonym="APD4; GLD2; PAPD4; TUT2"
                     /coded_by="XM_054351880.1:743..2272"
                     /db_xref="GeneID:167153"
                     /db_xref="HGNC:HGNC:26776"
                     /db_xref="MIM:614121"
ORIGIN      
        1 mfpnsilgrp pftpnhqqhn nfftlsptvy shqqlidaqf nfqnadlsra vslqqltygn
       61 vspiqtsasp lfrgrkrlsd eknlpldgkr qrfhsphqep tvvnqivpls gerrysmppl
      121 fhthyvpdiv rcvppfreia flepreitlp eakdklsqqi lelfetcqqq isdlkkkelc
      181 rtqlqreiql lfpqsrlflv gsslngfgtr ssdgdlclvv keepcffqvn qktearhilt
      241 lvhkhfctrl cksdmpqvcm spdvtllkmp ltlssagyie rpqlirakvp ivkfrdkvsc
      301 vefdlnvnni vgirntfllr tyaylenrvr plvlvikkwa shhqindasr gtlssyslvl
      361 mvlhylqtlp epilpslqki ypesfspaiq lhlvhqapcn vppylsknes nlgdlllgfl
      421 kyyatefdwn sqmisvreak aiprpdgiew rnkyicveep fdgtntarav hekqkfdmik
      481 dqflkswhrl knkrdlnsil pvraavlkr
//
LOCUS       XP_054212561             255 aa            linear   PRI 20-MAR-2023
DEFINITION  androgen-dependent TFPI-regulating protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_054212561
VERSION     XP_054212561.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356586.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..255
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..255
                     /product="androgen-dependent TFPI-regulating protein
                     isoform X1"
                     /calculated_mol_wt=29658
     CDS             1..255
                     /gene="ADTRP"
                     /gene_synonym="AIG1L; C6orf105; dJ413H6.1"
                     /coded_by="XM_054356586.1:522..1289"
                     /db_xref="GeneID:84830"
                     /db_xref="HGNC:HGNC:21214"
                     /db_xref="MIM:614348"
ORIGIN      
        1 mtktstciyh flvlswytfl nyyisqegkd evkpkilang arwkymtlln lllqtifygv
       61 tclddvlkrt kggkdikflt afrdllfttl afpvstfvfl afwilflynr dliypkvldt
      121 vipvwlnham htfifpitla evvlrphsyp skktgltlla aasiayisri lwlyfetgtw
      181 vypvfaklsl lglaaffsls yvfiasiyll geklnhwkwv svqilqrwrl esvgicfqwp
      241 dwkspakhql vknir
//
LOCUS       XP_054212647            1451 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptojanin-2 isoform X1 [Homo sapiens].
ACCESSION   XP_054212647
VERSION     XP_054212647.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356672.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1451
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1451
                     /product="synaptojanin-2 isoform X1"
                     /calculated_mol_wt=160202
     CDS             1..1451
                     /gene="SYNJ2"
                     /gene_synonym="INPP5H"
                     /coded_by="XM_054356672.1:100..4455"
                     /db_xref="GeneID:8871"
                     /db_xref="HGNC:HGNC:11504"
                     /db_xref="MIM:609410"
ORIGIN      
        1 malskglrll grlgaegdcs vlleargrdd cllfeagtva tlapeekevi kgqygkltda
       61 ygclgelrlk sggtslsflv lvtgctsvgr ipdaeiykit atdfyplqee akeeerlial
      121 kkilssgvfy fswpndgsrf dltvrtqkqg ddssewgnsf fwnqllhvpl rqhqvsccdw
      181 llkiicgvvt irtvyashkq akaclvsrvs certgtrfht rgvnddghvs nfveteqmiy
      241 mddgvssfvq irgsvplfwe qpglqvgshh lrlhrglean apafdrhmvl lkeqygqqvv
      301 vnllgsrgge evlnrafkkl lwaschagdt pminfdfhqf akggklekle tllrpqlklh
      361 wedfdvftkg envsprfqkg tlrmncldcl drtntvqsfi alevlhlqlk tlglsskpiv
      421 drfvesfkam wslnghslsk vftgsraleg kakvgklkdg arsmsrtiqs nffdgvkqea
      481 iklllvgdvy geevadkggm lldstallvt prilkamter qseftnfkri riamgtwnvn
      541 ggkqfrsnvl rtaeltdwll dspqlsgatd sqddsspadi favgfeemve lsagnivnas
      601 ttnkkmwgeq lqkaisrshr yilltsaqlv gvclyifvrp yhvpfirdva idtvktgmgg
      661 kagnkgavgi rfqfhstsfc ficshltagq sqvkernedy keitqklcfp mgrnvfshdy
      721 vfwcgdfnyr idltyeevfy fvkrqdwkkl lefdqlqlqk ssgkifkdfh egainfgpty
      781 kydvgsaayd tsdkcrtpaw tdrvlwwrkk hpfdktagel nlldsdldvd tkvrhtwspg
      841 alqyygrael qasdhrpvla ivevevqevd vgarervfqe vssfqgplda tvvvnlqspt
      901 leeknefped lrtelmqtlg sygtivlvri nqgqmlvtfa dshsalsvld vdgmkvkgra
      961 vkirpktkdw lkglreeiir krdsmapvsp tansclleen fdftsldyes egdiledded
     1021 ylvdefnqpg vsdselggdd lsdvpgptal appskspalt kkkqhptyka glmvkksasd
     1081 asissgthgq ysilqtarll pgapqqppka rtgiskpynv kqikttnaqe aeaairclle
     1141 arggaseeal savaprdlea ssepeptpga akpetpqapp llprrppprv paikkptlrr
     1201 tgkplspeeq feqqtvhfti gppetsveap pvvtaprvpp vpkprtfqpg kaaerpshrk
     1261 pasdeappga gasvppplea pplvpkvppr rkksapaafh lqvlqsnsql lqgltynssd
     1321 spsghppaag tvfpqgdfls tssatspdsd gtkamkpeaa pllgdyqdpf wnllhhpkll
     1381 nntwlskssd pldsgtrspk rdpidpvsag asaakaelpp dhghktlghw vtisdqekrt
     1441 alqvfdplak t
//
LOCUS       XP_054212857            1052 aa            linear   PRI 20-MAR-2023
DEFINITION  rho family-interacting cell polarization regulator 2 isoform X1
            [Homo sapiens].
ACCESSION   XP_054212857
VERSION     XP_054212857.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356882.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1052
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1052
                     /product="rho family-interacting cell polarization
                     regulator 2 isoform X1"
                     /calculated_mol_wt=116973
     CDS             1..1052
                     /gene="RIPOR2"
                     /gene_synonym="C6orf32; DFNA21; DFNB104; DIFF40; DIFF48;
                     FAM65B; MYONAP; PL48"
                     /coded_by="XM_054356882.1:242..3400"
                     /db_xref="GeneID:9750"
                     /db_xref="HGNC:HGNC:13872"
                     /db_xref="MIM:611410"
ORIGIN      
        1 mvlpsrlhwi rnrpwrdrir rrqlnrlptr lpeimlvgsq sfspggpngi irsqsfagfs
       61 glqerrsrcn sfienssalk kpqaklkkmh nlghknnnpp kepqpkrvee vyralkngld
      121 eylevhqtel dkltaqlkdm krnsrlgvly dldkqiktie rymrrlefhi skvdelyeay
      181 ciqrrlqdga skmkqafats paskaaresl teinrsfkey tenmctieve lenllgefsi
      241 kmkglagfar lcpgdqyeif mkygrqrwkl kgkievngkq swdgeetvfl plivgfisik
      301 vtelkglath ilvgsvtcet kelfaarpqv vavdindlgt iklnleitwy pfdvedmtas
      361 sgagnkaaal qrrmsmysqg tpetptfkdh sffsnlpddi fengkaaeek mplslsfsdl
      421 pngdcaltsh stgspsnstn peititpaef nlsslasqne gmddtssass rnslgegqep
      481 kshlkeedpe eprkpasaps eacrrqssga gaehlflend vaeallqese easelkpvel
      541 dtsegnitkq lvkrltsaev pmatdrllse gsvggesegc rsfldgsled afnglllale
      601 phkeqykefq dlnqevmnld dilkckpavs rsrssslslt vesalesfdf lntsdfdeee
      661 dgdevcnvgg gadsvfsdte tekhsyrsvh pearghlsea ltedtgvgts vagsplpltt
      721 gneslditiv rhlqyctqlv qqivfssktp fvarsllekl srqiqvmekl aavsdenign
      781 issvveaipe fhkklsllsf wtkccspvgv yhspadrvmk qleasfartv nkeypgladp
      841 vfrtlvsqil draepllsss lssevvtvfq yysyftshgv sdlesylsql arqvsmvqtl
      901 qslrdekllq tmsdlapsnl laqqevlrtl allltredne vseavtlyla aasknqhfre
      961 kallyyceal tktnlqlqka aclalkilea tesikmlvtl cqsdteeirn vasetllslg
     1021 edgrlayeql dkfprdcvkv ggrhgtevat af
//
LOCUS       XP_054213441            1020 aa            linear   PRI 20-MAR-2023
DEFINITION  ephrin type-B receptor 6 isoform X2 [Homo sapiens].
ACCESSION   XP_054213441
VERSION     XP_054213441.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357466.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1020
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1020
                     /product="ephrin type-B receptor 6 isoform X2"
                     /calculated_mol_wt=110442
     CDS             1..1020
                     /gene="EPHB6"
                     /gene_synonym="HEP"
                     /coded_by="XM_054357466.1:781..3843"
                     /db_xref="GeneID:2051"
                     /db_xref="HGNC:HGNC:3396"
                     /db_xref="MIM:602757"
ORIGIN      
        1 mategaaqlg nrvagmvcsl wvlllvssvl aleevlldtt getseigwlt yppggwdevs
       61 vlddqrrltr tfeachvaga ppgtgqdnwl qthfverrga qrahirlhfs vracsslgvs
      121 ggtcretftl yyrqaeepds pdsvsswhlk rwtkvdtiaa desfpsssss ssssssaawa
      181 vgphgagqra glqlnvkers fgpltqrgfy vafqdtgacl alvavrlfsy tcpavlrsfa
      241 sfpetqasga ggaslvaavg tcvahaepee dgvggqaggs pprlhcngeg kwmvavggcr
      301 cqpgyqparg dkacqacprg lykssagnap cspcparsha pnpaapvcpc legfyrassd
      361 ppeapctgpp sapqelwfev qgsalmlhwr lprelggrgd llfnvvckec egrqepasgg
      421 ggtchrcrde vhfdprqrgl tesrvlvggl rahvpyilev qavngvsels pdppqaaain
      481 vstshevpsa vpvvhqvsra snsitvswpq pdqtngnild yqlryydqae deshsftlts
      541 etntatvtql spghiygfqv rartaaghgp yggkvyfqtl pqgelssqlp erlslvigsi
      601 lgalafllla aitvlavvfq rkrrgtgyte qlqqysspgl gvkyyidpst yedpcqaire
      661 larevdpayi kieevigtgs fgevrqgrlq prgrreqtva iqalwaggae slqmtflgra
      721 avlgqfqhpn ilrlegvvtk srplmvltef melgpldsfl rregqfsslq lvamqrgvaa
      781 amqylssfaf vhrslsahsv lvnshlvckv arlghspqgp scllrwaape viahgkhtts
      841 sdvwsfgilm wevmsygerp ywdmseqevl naieqefrlp pppgcppglh llmldtwqkd
      901 rarrphfdql vaafdkmirk pdtlqaggdp gerpsqallt pvaldfpcld spqawlsaig
      961 lecyqdnfsk fglctfsdva qlsledlpal gitlaghqkk llhhiqllqq hlrqqgsvev
//
LOCUS       XP_054218655            1439 aa            linear   PRI 20-MAR-2023
DEFINITION  GTPase-activating protein and VPS9 domain-containing protein 1
            isoform X5 [Homo sapiens].
ACCESSION   XP_054218655
VERSION     XP_054218655.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362680.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1439
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1439
                     /product="GTPase-activating protein and VPS9
                     domain-containing protein 1 isoform X5"
                     /calculated_mol_wt=160476
     CDS             1..1439
                     /gene="GAPVD1"
                     /gene_synonym="GAPex-5; GAPEX5; RAP6"
                     /coded_by="XM_054362680.1:483..4802"
                     /db_xref="GeneID:26130"
                     /db_xref="HGNC:HGNC:23375"
                     /db_xref="MIM:611714"
ORIGIN      
        1 mvkldihtla hhlkqerlyv nsekqliqrl nadvlktaek lyrtawiakq qrinldrlii
       61 tsaeaspaec cqhakiledt qfvdgykqlg fqetaygefl srlrenprli asslvagekl
      121 nqentqsviy tvftslygnc imqedesyll qvlryliefe lkesdnprrl lrrgtcafsi
      181 lfklfseglf saklfltatl hepimqllve dedhletdpn klierfspsq qeklfgekgs
      241 drfrqkvqem vesneaklva lvnkfigylk qntycfphsl rwivsqmykt lscvdrlevg
      301 evramctdll lacficpavv npeqygiisd apinevarfn lmqvgrllqq lamtgseegd
      361 prtksslgkf dkscvaafld vviggravet pplssvnlle glsrtvvyit ysqlitlvnf
      421 mksvmsgdql redrmaldnl lanlppakpg kssslemtpy ntpqlspatt pankknrlpi
      481 atrsrsrtnm lmdlhmdheg ssqetiqevq peevlvislg tgpqltpgmm senevlnmql
      541 sdggqgdvpv denklhgpsn rsnsvssldl egesvselga gpsgsngvea lqlleheqat
      601 tqdnlddklr kfeirdmmgl tddrdisetv setwstdvlg sdfdpnided rlqeiagaaa
      661 enmlgsllcl pgsgsvlldp ctgstisett seawsvevlp sdseapdlkq eerlqelesc
      721 sglgstsddt dvrevssrps tpglsvvsgi satsedipnk iedlrsecss dfggkdsvts
      781 pdmdeithga hqltsppsqs esllamfdpl sshegasavv rpkvhyarps hpppdppile
      841 gavggnearl pnfgshvltp aemeafkqrh syperlvrsr ssdivssvrr pmsdpswnrr
      901 pgneerelpp aaaigatslv aaphsssssp skdssrgete erkdsddeks drnrpwwrkr
      961 fvsampkapi pfrkkekqek dkddlgpdrf stltddpspr lsaqaqvaed ildkyrnaik
     1021 rtspsdgama nyestevmgd gesahdsprd ealqnisadd lpdsasqaah pqdsafsyrd
     1081 akkklrlalc sadsvafpvl thstrnglpd htdpedneiv cflkvqiaea inlqdknlma
     1141 qlqetmrcvc rfdnrtcrkl lasiaedyrk rapyiayltr crqglqttqa hlerllqrvl
     1201 rdkevanryf ttvcvrllle skekkirefi qdfqkltaad dktaqvedfl qflygamaqd
     1261 viwqnaseeq lqdaqlaier svmnrifkla fypnqdgdil rdqvlhehiq rlskvvtanh
     1321 ralqipevyl reapwpsaqs eirtisaykt prdkvqcilr mcstimnlls lanedsvpga
     1381 ddfvpvlvfv likanppcll stvqyissfy asclsgeesy wwmqftaave fiktiddrk
//
LOCUS       XP_054220400             200 aa            linear   PRI 20-MAR-2023
DEFINITION  extensin-like [Homo sapiens].
ACCESSION   XP_054220400
VERSION     XP_054220400.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364425.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..200
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..200
                     /product="extensin-like"
                     /calculated_mol_wt=21420
     CDS             1..200
                     /gene="LOC124900275"
                     /coded_by="XM_054364425.1:1167..1769"
                     /db_xref="GeneID:124900275"
ORIGIN      
        1 mpihlspysh itqtvphtph tlwphskhtq ttelmsglpw cpplgscpqp qhlppiegrd
       61 ppssvflhfs sgpctkslpv vawtrtpptv ttvtvpppsr sqtplpcfwq epsslpllpl
      121 qtqtspsghp hldfgvphtp pqalasgifg nlnwarglss hlsgastfss vkwantertl
      181 qnlsnvtedi vstasglllg
//
LOCUS       NP_001123914             189 aa            linear   PRI 10-APR-2023
DEFINITION  GTPase HRas isoform 1 [Homo sapiens].
ACCESSION   NP_001123914
VERSION     NP_001123914.1
DBSOURCE    REFSEQ: accession NM_001130442.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 189)
  AUTHORS   Jagadeeshan S, Prasad M, Badarni M, Ben-Lulu T, Liju VB, Mathukkada
            S, Saunders C, Shnerb AB, Zorea J, Yegodayev KM, Wainer M, Vtorov
            L, Allon I, Cohen O, Gausdal G, Friedmann-Morvinski D, Cheong SC,
            Ho AL, Rosenberg AJ, Kessler L, Burrows F, Kong D, Grandis JR,
            Gutkind JS and Elkabets M.
  TITLE     Mutated HRAS Activates YAP1-AXL Signaling to Drive Metastasis of
            Head and Neck Cancer
  JOURNAL   Cancer Res 83 (7), 1031-1047 (2023)
   PUBMED   36753744
  REMARK    GeneRIF: Mutated HRAS Activates YAP1-AXL Signaling to Drive
            Metastasis of Head and Neck Cancer.
REFERENCE   2  (residues 1 to 189)
  AUTHORS   Liverani C, Spadazzi C, Ibrahim T, Pieri F, Foca F, Calabrese C, De
            Vita A, Miserocchi G, Cocchi C, Vanni S, Ercolani G, Cavaliere D,
            Ranallo N, Chiadini E, Prisinzano G, Severi S, Sansovini M,
            Martinelli G, Bongiovanni A and Mercatali L.
  TITLE     HRAS overexpression predicts response to Lenvatinib treatment in
            gastroenteropancreatic neuroendocrine tumors
  JOURNAL   Front Endocrinol (Lausanne) 13, 1045038 (2023)
   PUBMED   36743926
  REMARK    GeneRIF: HRAS overexpression predicts response to Lenvatinib
            treatment in gastroenteropancreatic neuroendocrine tumors.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 189)
  AUTHORS   Nauth T, Bazgir F, Voss H, Brandenstein LI, Mosaddeghzadeh N,
            Rickassel V, Deden S, Gorzelanny C, Schluter H, Ahmadian MR and
            Rosenberger G.
  TITLE     Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser
            affects RIN1-mediated integrin trafficking in immortalized
            epidermal keratinocytes
  JOURNAL   Hum Mol Genet 32 (2), 304-318 (2023)
   PUBMED   35981076
  REMARK    GeneRIF: Cutaneous manifestations in Costello syndrome: HRAS
            p.Gly12Ser affects RIN1-mediated integrin trafficking in
            immortalized epidermal keratinocytes.
REFERENCE   4  (residues 1 to 189)
  AUTHORS   Lindsey-Temple S, Edwards M, Rickassel V, Nauth T and Rosenberger
            G.
  TITLE     A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with
            attenuated features of Costello syndrome
  JOURNAL   Eur J Hum Genet 30 (9), 1088-1093 (2022)
   PUBMED   35764878
  REMARK    GeneRIF: A novel HRAS c.466C>T p.(Phe156Leu) variant in two
            patients with attenuated features of Costello syndrome.
REFERENCE   5  (residues 1 to 189)
  AUTHORS   Mathiot L, Herbreteau G, Robin S, Fenat C, Bennouna J, Blanquart C,
            Denis M and Pons-Tostivint E.
  TITLE     HRAS Q61L Mutation as a Possible Target for Non-Small Cell Lung
            Cancer: Case Series and Review of Literature
  JOURNAL   Curr Oncol 29 (5), 3748-3758 (2022)
   PUBMED   35621690
  REMARK    GeneRIF: HRAS Q61L Mutation as a Possible Target for Non-Small Cell
            Lung Cancer: Case Series and Review of Literature.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 189)
  AUTHORS   Gripp,K.W. and Rauen,K.A.
  TITLE     Costello Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301680
REFERENCE   7  (residues 1 to 189)
  AUTHORS   Sakai E, Rikimaru K, Ueda M, Matsumoto Y, Ishii N, Enomoto S,
            Yamamoto H and Tsuchida N.
  TITLE     The p53 tumor-suppressor gene and ras oncogene mutations in oral
            squamous-cell carcinoma
  JOURNAL   Int J Cancer 52 (6), 867-872 (1992)
   PUBMED   1459726
REFERENCE   8  (residues 1 to 189)
  AUTHORS   Tanci P, Genuardi M, Santini SA and Neri G.
  TITLE     PCR detection of an insertion/deletion polymorphism in intron 1 of
            the HRAS1 locus
  JOURNAL   Nucleic Acids Res 20 (5), 1157 (1992)
   PUBMED   1549493
REFERENCE   9  (residues 1 to 189)
  AUTHORS   Kinsella BT, Erdman RA and Maltese WA.
  TITLE     Posttranslational modification of Ha-ras p21 by farnesyl versus
            geranylgeranyl isoprenoids is determined by the COOH-terminal amino
            acid
  JOURNAL   Proc Natl Acad Sci U S A 88 (20), 8934-8938 (1991)
   PUBMED   1924354
REFERENCE   10 (residues 1 to 189)
  AUTHORS   Tong LA, de Vos AM, Milburn MV and Kim SH.
  TITLE     Crystal structures at 2.2 A resolution of the catalytic domains of
            normal ras protein and an oncogenic mutant complexed with GDP
  JOURNAL   J Mol Biol 217 (3), 503-516 (1991)
   PUBMED   1899707
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC137894.5, BM808879.1,
            BQ674260.1 and BQ574535.1.
            
            Summary: This gene belongs to the Ras oncogene family, whose
            members are related to the transforming genes of mammalian sarcoma
            retroviruses. The products encoded by these genes function in
            signal transduction pathways. These proteins can bind GTP and GDP,
            and they have intrinsic GTPase activity. This protein undergoes a
            continuous cycle of de- and re-palmitoylation, which regulates its
            rapid exchange between the plasma membrane and the Golgi apparatus.
            Mutations in this gene cause Costello syndrome, a disease
            characterized by increased growth at the prenatal stage, growth
            deficiency at the postnatal stage, predisposition to tumor
            formation, cognitive disability, skin and musculoskeletal
            abnormalities, distinctive facial appearance and cardiovascular
            abnormalities. Defects in this gene are implicated in a variety of
            cancers, including bladder cancer, follicular thyroid cancer, and
            oral squamous cell carcinoma. Multiple transcript variants, which
            encode different isoforms, have been identified for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 3' UTR,
            compared to variant 1. Both variants 1 and 3 encode the same
            isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.161016.1,
                                           SRR14372079.2208141.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..189
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     Protein         1..189
                     /product="GTPase HRas isoform 1"
                     /EC_number="3.6.5.2"
                     /note="Ha-Ras1 proto-oncoprotein; Ras family small GTP
                     binding protein H-Ras; Harvey rat sarcoma viral oncogene
                     homolog; p19 H-RasIDX protein; transforming protein p21;
                     GTPase HRas; GTP- and GDP-binding peptide B;
                     transformation gene: oncogene HAMSV; c-has/bas p21
                     protein; v-Ha-ras Harvey rat sarcoma viral oncogene
                     homolog; Harvey rat sarcoma viral oncoprotein"
                     /calculated_mol_wt=21167
     mat_peptide     1..186
                     /product="GTPase HRas. /id=PRO_0000042996"
                     /note="propagated from UniProtKB/Swiss-Prot (P01112.1)"
                     /calculated_mol_wt=20999
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine, in GTPase HRas, alternate.
                     /evidence=ECO:0000269|Ref.12; propagated from
                     UniProtKB/Swiss-Prot (P01112.1)"
     mat_peptide     2..186
                     /product="GTPase HRas, N-terminally processed.
                     /id=PRO_0000326476"
                     /note="propagated from UniProtKB/Swiss-Prot (P01112.1)"
                     /calculated_mol_wt=20868
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylthreonine, in GTPase HRas, N-terminally
                     processed. /evidence=ECO:0000269|Ref.12; propagated from
                     UniProtKB/Swiss-Prot (P01112.1)"
     Region          3..164
                     /region_name="H_N_K_Ras_like"
                     /note="Ras GTPase family containing H-Ras,N-Ras and
                     K-Ras4A/4B; cd04138"
                     /db_xref="CDD:133338"
     Site            10..17
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:133338"
     Site            order(11..12,59..60)
                     /site_type="other"
                     /note="putative GDI interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:133338"
     Site            order(12..18,28..30,32,35,60,116..117,119..120,145..146)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:133338"
     Site            order(17..18,30..32,34,37,40..41,54..55,57,59..61,63..65,
                     67,69..71,73,102..103,147)
                     /site_type="other"
                     /note="GEF interaction site [polypeptide binding]"
                     /db_xref="CDD:133338"
     Site            order(25,37..41)
                     /site_type="active"
                     /note="effector interaction site [active]"
                     /db_xref="CDD:133338"
     Region          32..40
                     /region_name="Effector region"
                     /note="propagated from UniProtKB/Swiss-Prot (P01112.1)"
     Site            33..40
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:133338"
     Site            35
                     /site_type="glycosylation"
                     /note="(Microbial infection) O-linked (Glc) threonine, by
                     P.sordellii toxin TcsL.
                     /evidence=ECO:0000269|PubMed:19744486,
                     ECO:0000269|PubMed:8626575, ECO:0000269|PubMed:8626586,
                     ECO:0000269|PubMed:9632667; propagated from
                     UniProtKB/Swiss-Prot (P01112.1)"
     Site            35
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:133338"
     Site            57..60
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:133338"
     Site            59..77
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:133338"
     Site            116..119
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:133338"
     Site            145..147
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:133338"
     Region          166..185
                     /region_name="Hypervariable region"
                     /note="propagated from UniProtKB/Swiss-Prot (P01112.1)"
     Site            186
                     /site_type="methylation"
                     /note="Cysteine methyl ester.
                     /evidence=ECO:0000269|PubMed:8626715; propagated from
                     UniProtKB/Swiss-Prot (P01112.1)"
     CDS             1..189
                     /gene="HRAS"
                     /gene_synonym="C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO;
                     H-RASIDX; HAMSV; HRAS1; p21ras; RASH1"
                     /coded_by="NM_001130442.3:215..784"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS7698.1"
                     /db_xref="GeneID:3265"
                     /db_xref="HGNC:HGNC:5173"
                     /db_xref="MIM:190020"
ORIGIN      
        1 mteyklvvvg aggvgksalt iqliqnhfvd eydptiedsy rkqvvidget clldildtag
       61 qeeysamrdq ymrtgegflc vfainntksf edihqyreqi krvkdsddvp mvlvgnkcdl
      121 aartvesrqa qdlarsygip yietsaktrq gvedafytlv reirqhklrk lnppdesgpg
      181 cmsckcvls
//
LOCUS       NP_001353247            1515 aa            linear   PRI 10-APR-2023
DEFINITION  protein FAM193A isoform 6 [Homo sapiens].
ACCESSION   NP_001353247 XP_006713993
VERSION     NP_001353247.1
DBSOURCE    REFSEQ: accession NM_001366318.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1515)
  AUTHORS   Szwarc MM, Guarnieri AL, Joshi M, Duc HN, Laird MC, Pandey A,
            Khanal S, Dohm E, Bui AK, Sullivan KD, Galbraith MD, Andrysik Z and
            Espinosa JM.
  TITLE     FAM193A is a positive regulator of p53 activity
  JOURNAL   Cell Rep 42 (3), 112230 (2023)
   PUBMED   36897777
  REMARK    GeneRIF: FAM193A is a positive regulator of p53 activity.
REFERENCE   2  (residues 1 to 1515)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (residues 1 to 1515)
  AUTHORS   Amin M, Uhlig HH, Kamprad M, Karbe J, Osman AA, Grahmann F,
            Hummelsheim H and Mothes T.
  TITLE     Neurological disease-associated autoantibodies against an unknown
            protein encoded by a RES4-22 homologous gene
  JOURNAL   Scand J Immunol 53 (2), 204-208 (2001)
   PUBMED   11169226
REFERENCE   4  (residues 1 to 1515)
  AUTHORS   Hadano S, Ishida Y and Ikeda JE.
  TITLE     The primary structure and genomic organization of five novel
            transcripts located close to the Huntington's disease gene on human
            chromosome 4p16.3
  JOURNAL   DNA Res 5 (3), 177-186 (1998)
   PUBMED   9734812
REFERENCE   5  (residues 1 to 1515)
  AUTHORS   Hadano S, Ishida Y, Tomiyasu H, Yamamoto K, Bates GP and Ikeda JE.
  TITLE     Transcript map of the human chromosome 4p16.3 consisting of 627
            cDNA clones derived from 1 Mb of the Huntington's disease locus
  JOURNAL   DNA Res 3 (4), 239-255 (1996)
   PUBMED   8946164
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX322586.11, CR545473.2 and AL110117.3.
            On Sep 29, 2018 this sequence version replaced XP_006713993.3.
            
            Transcript Variant: This variant (8) encodes the longest protein
            (isoform 6). This variant is inferred based on short read sequence
            data and conservation.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000637812.2/ ENSP00000490564.1
            RefSeq Select criteria    :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1515
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     Protein         1..1515
                     /product="protein FAM193A isoform 6"
                     /note="protein FAM193A"
                     /calculated_mol_wt=166242
     Region          <952..>1029
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     Region          1459..1514
                     /region_name="FAM193_C"
                     /note="FAM193 family C-terminal; pfam15914"
                     /db_xref="CDD:435016"
     CDS             1..1515
                     /gene="FAM193A"
                     /gene_synonym="C4orf8; RES4-22"
                     /coded_by="NM_001366318.2:270..4817"
                     /note="isoform 6 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS93467.1"
                     /db_xref="GeneID:8603"
                     /db_xref="HGNC:HGNC:16822"
                     /db_xref="MIM:620037"
ORIGIN      
        1 mspadakrga krrknkrggg ggsgggngga ssgkagpaaa lrgsqaagla apgsaaglvg
       61 gaaaangplg agasaggaap ggyfetpfsf gmnhrtppyp agdycllcrs erkdssfles
      121 giktasklal smapkgnsvl hlplwvcpdc rrtvekeerh ggldqpvsqd fllhsslggs
      181 qpeagsggrl algaqtlpsd tacsceacse rreisaeadr epqqlqnyws evrytvrciy
      241 rqagtpladd qdqslvpdke gvkelvdrlc erdpyqlyqr leqqareyvl emkvrllrql
      301 saaakvkaps glqgppqahq fisllleeyg alcqaarsis tflgtleneh lkkfqvtwel
      361 hnkhlfenlv fsepllqsnl palvsqirlg ttthdtcsed tystllqryq rseeelrrva
      421 eewlecqkri dayvdeqmtm ktkqrmlted welfkqrrfi eeqltnkkav tgennftdtm
      481 rhmlssrlsm pdcpncnyrr rcacddcsls hiltcgimdp pvtddihihq lplqvdpapd
      541 ylaersppsv ssassgsgss spitiqqhpr liltdsgsap tfcsddedva plsakfadiy
      601 plsnyddtev vanmngihse lngggenmal kdespqisst ssssseadde eadgessgep
      661 pgapkedgvl gsrsprtees kadspppsyp tqqaeqapnt cechvckqea sgltpsamta
      721 galppghqfl spekpthpal hlyphihghv plhtvphlpr plihptlyat ppfthskalp
      781 papvqnhtnk hqvfnaslqd hiypscfgnt pewnsskfis lwgsevmndk nwnpgtflpd
      841 tisgseilgp tlsetrpeal pppssnetpa vsdskekkna akkkclynfq dafmeankvv
      901 matssatssv sctattvqss nsqfrvsskr ppsvgdvfhg iskedhrhsa paaprnsptg
      961 laplpalspa alspaalspa stphlanlaa psfpktattt pgfvdtrksf cpaplppatd
     1021 gsisappsvc sdpdceghrc engvydpqqd dgdesadeds csehssstst stnqkegkyc
     1081 dccyceffgh ggppaaptsr nyaemreklr lrltkrkeeq pkkmdqiser esvvdhrrve
     1141 dllqfinsse tkpvsstraa krarhkqrkl eekarleaea rarehlhlqe eqrrreeeed
     1201 eeeeedrfke efqrlqelqk lravkkkkke rpskdcpkld mltrnfqaat esvpnsgnih
     1261 ngsleqteep etsshspsrh mnhseprpgl gadgdaadpv dtrdskfllp kevngkqhep
     1321 lsfffdimqh hkegngkqkl rqtskassep arrpteppka tegqskpraq teskakvvdl
     1381 msiteqkree rkvnsnnnnk kqlnhikdek snptpmepts pgehqqnskl vlaespqpkg
     1441 knkknkkkkg drvnnsiddv flpkdidlds vdmdeterev eyfkrfclds arqtrqrlsi
     1501 nwsnfslkka tfaah
//
LOCUS       NP_057075                245 aa            linear   PRI 14-APR-2023
DEFINITION  complement C1q subcomponent subunit A precursor [Homo sapiens].
ACCESSION   NP_057075
VERSION     NP_057075.1
DBSOURCE    REFSEQ: accession NM_015991.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 245)
  AUTHORS   Govender S, Nayak NR, Nandlal L and Naicker T.
  TITLE     Gene polymorphisms within regions of complement component C1q in
            HIV associated preeclampsia
  JOURNAL   Eur J Obstet Gynecol Reprod Biol 282, 133-139 (2023)
   PUBMED   36716536
  REMARK    GeneRIF: Gene polymorphisms within regions of complement component
            C1q in HIV associated preeclampsia.
REFERENCE   2  (residues 1 to 245)
  AUTHORS   Freda CT, Yin W, Ghebrehiwet B and Rubenstein DA.
  TITLE     Complement component C1q initiates extrinsic coagulation via the
            receptor for the globular head of C1q in adventitial fibroblasts
            and vascular smooth muscle cells
  JOURNAL   Immun Inflamm Dis 11 (1), e769 (2023)
   PUBMED   36705413
  REMARK    GeneRIF: Complement component C1q initiates extrinsic coagulation
            via the receptor for the globular head of C1q in adventitial
            fibroblasts and vascular smooth muscle cells.
REFERENCE   3  (residues 1 to 245)
  AUTHORS   Liang Z, Pan L, Shi J and Zhang L.
  TITLE     C1QA, C1QB, and GZMB are novel prognostic biomarkers of skin
            cutaneous melanoma relating tumor microenvironment
  JOURNAL   Sci Rep 12 (1), 20460 (2022)
   PUBMED   36443341
  REMARK    GeneRIF: C1QA, C1QB, and GZMB are novel prognostic biomarkers of
            skin cutaneous melanoma relating tumor microenvironment.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 245)
  AUTHORS   Son M, Diamond B and Santiago-Schwarz F.
  TITLE     Fundamental role of C1q in autoimmunity and inflammation
  JOURNAL   Immunol Res 63 (1-3), 101-106 (2015)
   PUBMED   26410546
  REMARK    Review article
REFERENCE   5  (residues 1 to 245)
  AUTHORS   Kouser L, Madhukaran SP, Shastri A, Saraon A, Ferluga J, Al-Mozaini
            M and Kishore U.
  TITLE     Emerging and Novel Functions of Complement Protein C1q
  JOURNAL   Front Immunol 6, 317 (2015)
   PUBMED   26175731
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 245)
  AUTHORS   Sellar GC, Cockburn D and Reid KB.
  TITLE     Localization of the gene cluster encoding the A, B, and C chains of
            human C1q to 1p34.1-1p36.3
  JOURNAL   Immunogenetics 35 (3), 214-216 (1992)
   PUBMED   1537612
REFERENCE   7  (residues 1 to 245)
  AUTHORS   Sellar GC, Blake DJ and Reid KB.
  TITLE     Characterization and organization of the genes encoding the A-, B-
            and C-chains of human complement subcomponent C1q. The complete
            derived amino acid sequence of human C1q
  JOURNAL   Biochem J 274 (Pt 2) (Pt 2), 481-490 (1991)
   PUBMED   1706597
REFERENCE   8  (residues 1 to 245)
  AUTHORS   Reid,K.B.
  TITLE     Complete amino acid sequences of the three collagen-like regions
            present in subcomponent C1q of the first component of human
            complement
  JOURNAL   Biochem J 179 (2), 367-371 (1979)
   PUBMED   486087
REFERENCE   9  (residues 1 to 245)
  AUTHORS   Reid,K.B.
  TITLE     Isolation, by partial pepsin digestion, of the three collagen-like
            regions present in subcomponent Clq of the first component of human
            complement
  JOURNAL   Biochem J 155 (1), 5-17 (1976)
   PUBMED   7240
REFERENCE   10 (residues 1 to 245)
  AUTHORS   Ziccardi,R.J. and Cooper,N.R.
  TITLE     Physicochemical and functional characterization of the C1r subunit
            of the first complement component
  JOURNAL   J Immunol 116 (2), 496-503 (1976)
   PUBMED   814163
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG548439.1, BC030153.2,
            BC071986.1 and BX369252.2.
            
            Summary: This gene encodes the A-chain polypeptide of serum
            complement subcomponent C1q, which associates with C1r and C1s to
            yield the first component of the serum complement system. C1q
            deficiency is associated with lupus erythematosus and
            glomerulonephritis. C1q is composed of 18 polypeptide chains which
            include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains
            an N-terminal collagen-like region and a C-terminal C1q globular
            domain. Alternate splicing results in multiple transcript variants.
            [provided by RefSeq, Nov 2016].
            
            Transcript Variant: This variant (1) uses an alternate splice site
            in the 5' UTR, compared to variant (2). Variants 1-3 encode the
            same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC030153.2, ERR279834.4876.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374642.8/ ENSP00000363773.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..245
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     Protein         1..245
                     /product="complement C1q subcomponent subunit A precursor"
                     /note="complement component C1q, A chain; complement
                     component 1, q subcomponent, alpha polypeptide; complement
                     C1q subcomponent subunit A; complement component 1, q
                     subcomponent, A chain; complement C1q chain A"
                     /calculated_mol_wt=23688
     sig_peptide     1..22
                     /note="/evidence=ECO:0000269|PubMed:486087; propagated
                     from UniProtKB/Swiss-Prot (P02745.2)"
                     /calculated_mol_wt=2347
     mat_peptide     23..245
                     /product="Complement C1q subcomponent subunit A.
                     /id=PRO_0000003517"
                     /note="propagated from UniProtKB/Swiss-Prot (P02745.2)"
                     /calculated_mol_wt=23688
     Region          27..114
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P02745.2)"
     Region          <29..>116
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Site            33
                     /site_type="hydroxylation"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:486087; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     Site            33
                     /site_type="glycosylation"
                     /note="O-linked (Gal...) hydroxylysine.
                     /evidence=ECO:0000269|PubMed:486087; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     Site            39
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:486087; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     Site            45
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:486087; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     Site            48
                     /site_type="hydroxylation"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:486087; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     Site            48
                     /site_type="glycosylation"
                     /note="O-linked (Gal...) hydroxylysine.
                     /evidence=ECO:0000269|PubMed:486087; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     Site            54
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:486087; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     Site            57
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:486087; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     Site            67
                     /site_type="hydroxylation"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:486087; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     Site            67
                     /site_type="glycosylation"
                     /note="O-linked (Gal...) hydroxylysine.
                     /evidence=ECO:0000269|PubMed:486087; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     Site            73
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:486087; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     Site            79
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:486087; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     Site            85
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:486087; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     Site            100
                     /site_type="hydroxylation"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:486087; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     Site            100
                     /site_type="glycosylation"
                     /note="O-linked (Gal...) hydroxylysine.
                     /evidence=ECO:0000269|PubMed:486087; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     Region          108..244
                     /region_name="C1Q"
                     /note="Complement component C1q domain; smart00110"
                     /db_xref="CDD:128420"
     Site            146
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P02745.2)"
     CDS             1..245
                     /gene="C1QA"
                     /gene_synonym="C1QD1"
                     /coded_by="NM_015991.4:83..820"
                     /db_xref="CCDS:CCDS226.1"
                     /db_xref="GeneID:712"
                     /db_xref="HGNC:HGNC:1241"
                     /db_xref="MIM:120550"
ORIGIN      
        1 megprgwlvl cvlaislasm vtedlcrapd gkkgeagrpg rrgrpglkge qgepgapgir
       61 tgiqglkgdq gepgpsgnpg kvgypgpsgp lgargipgik gtkgspgnik dqprpafsai
      121 rrnppmggnv vifdtvitnq eepyqnhsgr fvctvpgyyy ftfqvlsqwe iclsivsssr
      181 gqvrrslgfc dttnkglfqv vsggmvlqlq qgdqvwvekd pkkghiyqgs eadsvfsgfl
      241 ifpsa
//
LOCUS       NP_001310231             384 aa            linear   PRI 17-APR-2023
DEFINITION  mitogen-activated protein kinase 8 isoform alpha1 [Homo sapiens].
ACCESSION   NP_001310231 XP_011538260
VERSION     NP_001310231.1
DBSOURCE    REFSEQ: accession NM_001323302.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 384)
  AUTHORS   Itakura M, Kubo T, Kaneshige A and Nakajima H.
  TITLE     Glyceraldehyde-3-phosphate dehydrogenase regulates activation of
            c-Jun N-terminal kinase under oxidative stress
  JOURNAL   Biochem Biophys Res Commun 657, 1-7 (2023)
   PUBMED   36963174
  REMARK    GeneRIF: Glyceraldehyde-3-phosphate dehydrogenase regulates
            activation of c-Jun N-terminal kinase under oxidative stress.
REFERENCE   2  (residues 1 to 384)
  AUTHORS   Yang J, Wang J, Zhang Y, Huang W, Zhang S, Yin P and Tan W.
  TITLE     c-Jun phosphorylated by JNK is required for protecting Gli2 from
            proteasomal-ubiquitin degradation by PGE2-JNK signaling axis
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1870 (3), 119418 (2023)
   PUBMED   36581088
  REMARK    GeneRIF: c-Jun phosphorylated by JNK is required for protecting
            Gli2 from proteasomal-ubiquitin degradation by PGE2-JNK signaling
            axis.
REFERENCE   3  (residues 1 to 384)
  AUTHORS   Du XH, Ke SB, Liang XY, Gao J, Xie XX, Qi LZ, Liu XY, Xu GY, Zhang
            XD, Du RL and Li SZ.
  TITLE     USP14 promotes colorectal cancer progression by targeting JNK for
            stabilization
  JOURNAL   Cell Death Dis 14 (1), 56 (2023)
   PUBMED   36693850
  REMARK    GeneRIF: USP14 promotes colorectal cancer progression by targeting
            JNK for stabilization.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 384)
  AUTHORS   Liu M, Su C, Zhu L, Dong F, Shu H, Zhang H, Wang M, Wang F and Man
            D.
  TITLE     Highly expressed FYN promotes the progression of placenta accreta
            by activating STAT3, p38, and JNK signaling pathways
  JOURNAL   Acta Histochem 125 (1), 151991 (2023)
   PUBMED   36563468
  REMARK    GeneRIF: Highly expressed FYN promotes the progression of placenta
            accreta by activating STAT3, p38, and JNK signaling pathways.
            Review article
            Erratum:[Acta Histochem. 2023 Jan 6;:151996. PMID: 36621406]
REFERENCE   5  (residues 1 to 384)
  AUTHORS   Zhang SX and Yu CH.
  TITLE     Silencing of UCA1 attenuates the ox-LDL-induced injury of human
            umbilical vein endothelial cells via miR-873-5p/MAPK8 axis
  JOURNAL   Kaohsiung J Med Sci 39 (1), 6-15 (2023)
   PUBMED   36326096
  REMARK    GeneRIF: Silencing of UCA1 attenuates the ox-LDL-induced injury of
            human umbilical vein endothelial cells via miR-873-5p/MAPK8 axis.
REFERENCE   6  (residues 1 to 384)
  AUTHORS   Kharbanda S, Saleem A, Shafman T, Emoto Y, Taneja N, Rubin E,
            Weichselbaum R, Woodgett J, Avruch J, Kyriakis J et al.
  TITLE     Ionizing radiation stimulates a Grb2-mediated association of the
            stress-activated protein kinase with phosphatidylinositol 3-kinase
  JOURNAL   J Biol Chem 270 (32), 18871-18874 (1995)
   PUBMED   7642542
REFERENCE   7  (residues 1 to 384)
  AUTHORS   van Dam H, Wilhelm D, Herr I, Steffen A, Herrlich P and Angel P.
  TITLE     ATF-2 is preferentially activated by stress-activated protein
            kinases to mediate c-jun induction in response to genotoxic agents
  JOURNAL   EMBO J 14 (8), 1798-1811 (1995)
   PUBMED   7737130
REFERENCE   8  (residues 1 to 384)
  AUTHORS   Livingstone C, Patel G and Jones N.
  TITLE     ATF-2 contains a phosphorylation-dependent transcriptional
            activation domain
  JOURNAL   EMBO J 14 (8), 1785-1797 (1995)
   PUBMED   7737129
REFERENCE   9  (residues 1 to 384)
  AUTHORS   Derijard B, Raingeaud J, Barrett T, Wu IH, Han J, Ulevitch RJ and
            Davis RJ.
  TITLE     Independent human MAP-kinase signal transduction pathways defined
            by MEK and MKK isoforms
  JOURNAL   Science 267 (5198), 682-685 (1995)
   PUBMED   7839144
  REMARK    Erratum:[Science 1995 Jul 7;269(5220):17]
REFERENCE   10 (residues 1 to 384)
  AUTHORS   Seth A, Alvarez E, Gupta S and Davis RJ.
  TITLE     A phosphorylation site located in the NH2-terminal domain of c-Myc
            increases transactivation of gene expression
  JOURNAL   J Biol Chem 266 (35), 23521-23524 (1991)
   PUBMED   1748630
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC074325.7 and AC016397.6.
            On Apr 18, 2016 this sequence version replaced XP_011538260.1.
            
            Summary: The protein encoded by this gene is a member of the MAP
            kinase family. MAP kinases act as an integration point for multiple
            biochemical signals, and are involved in a wide variety of cellular
            processes such as proliferation, differentiation, transcription
            regulation and development. This kinase is activated by various
            cell stimuli, and targets specific transcription factors, and thus
            mediates immediate-early gene expression in response to cell
            stimuli. The activation of this kinase by tumor-necrosis factor
            alpha (TNF-alpha) is found to be required for TNF-alpha induced
            apoptosis. This kinase is also involved in UV radiation induced
            apoptosis, which is thought to be related to cytochrom c-mediated
            cell death pathway. Studies of the mouse counterpart of this gene
            suggested that this kinase play a key role in T cell proliferation,
            apoptosis and differentiation. Several alternatively spliced
            transcript variants encoding distinct isoforms have been reported.
            [provided by RefSeq, Apr 2016].
            
            Transcript Variant: This variant (JNK1-a1) uses a different
            acceptor splice site in the last coding exon compared to transcript
            variant JNK1-a2, resulting in a frameshift and a shorter isoform
            (JNK1 alpha1) with a different C-terminus, compared to isoform JNK1
            alpha2. The JNK1-a1 variant differs from the JNK1-b1 variant in the
            use of an alternate internal coding exon of the same length. Thus,
            JNK1 alpha1 isoform is the same length as JNK1 beta1 isoform, with
            a few aa difference in an internal protein segment. Variants
            JNK1-a1, 10, 12, and 13 all encode isoform alpha1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.3821925.1,
                                           SRR18074969.1655792.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     Protein         1..384
                     /product="mitogen-activated protein kinase 8 isoform
                     alpha1"
                     /EC_number="2.7.11.24"
                     /note="JUN N-terminal kinase; c-Jun N-terminal kinase 1;
                     MAP kinase 8; stress-activated protein kinase 1;
                     stress-activated protein kinase 1c"
                     /calculated_mol_wt=44098
     Region          25..360
                     /region_name="STKc_JNK"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     c-Jun N-terminal Kinase; cd07850"
                     /db_xref="CDD:270840"
     Site            order(32..38,40,53,55,72,86,108..114,116..117,151,153,
                     155..156,158,168..169,172,183,185..188,190,227)
                     /site_type="active"
                     /db_xref="CDD:270840"
     Site            order(32..38,40,53,55,86,108..114,158,168)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270840"
     Site            order(72,116,151,153,172,183,185..188,190,227)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270840"
     Site            order(112,118,127,130,159..163,323..324,326,329)
                     /site_type="other"
                     /note="KIM docking site [polypeptide binding]"
                     /db_xref="CDD:270840"
     Site            order(168..178,182..190)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270840"
     Region          183..185
                     /region_name="TXY"
                     /note="propagated from UniProtKB/Swiss-Prot (P45983.2)"
     Site            183
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by MAP2K7.
                     /evidence=ECO:0000269|PubMed:11062067; propagated from
                     UniProtKB/Swiss-Prot (P45983.2)"
     Site            185
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by MAP2K4.
                     /evidence=ECO:0000269|PubMed:11062067; propagated from
                     UniProtKB/Swiss-Prot (P45983.2)"
     Site            301
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P45983.2)"
     Site            377
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q91Y86; Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P45983.2)"
     CDS             1..384
                     /gene="MAPK8"
                     /gene_synonym="JNK; JNK-46; JNK1; JNK1A2; JNK21B1/2;
                     PRKM8; SAPK1; SAPK1c"
                     /coded_by="NM_001323302.2:458..1612"
                     /note="isoform alpha1 is encoded by transcript variant
                     JNK1-a1"
                     /db_xref="CCDS:CCDS7225.1"
                     /db_xref="GeneID:5599"
                     /db_xref="HGNC:HGNC:6881"
                     /db_xref="MIM:601158"
ORIGIN      
        1 msrskrdnnf ysveigdstf tvlkryqnlk pigsgaqgiv caaydailer nvaikklsrp
       61 fqnqthakra yrelvlmkcv nhkniiglln vftpqkslee fqdvyivmel mdanlcqviq
      121 meldhermsy llyqmlcgik hlhsagiihr dlkpsnivvk sdctlkildf glartagtsf
      181 mmtpyvvtry yrapevilgm gykenvdlws vgcimgemvc hkilfpgrdy idqwnkvieq
      241 lgtpcpefmk klqptvrtyv enrpkyagys feklfpdvlf padsehnklk asqardllsk
      301 mlvidaskri svdealqhpy invwydpsea eapppkipdk qlderehtie ewkeliykev
      361 mdleertkng virgqpspla qvqq
//
LOCUS       NP_848564                152 aa            linear   PRI 08-JUN-2022
DEFINITION  epididymal-specific lipocalin-8 isoform 2 [Homo sapiens].
ACCESSION   NP_848564 XP_059963
VERSION     NP_848564.2
DBSOURCE    REFSEQ: accession NM_178469.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 152)
  AUTHORS   Suzuki K, Lareyre JJ, Sanchez D, Gutierrez G, Araki Y, Matusik RJ
            and Orgebin-Crist MC.
  TITLE     Molecular evolution of epididymal lipocalin genes localized on
            mouse chromosome 2
  JOURNAL   Gene 339, 49-59 (2004)
   PUBMED   15363845
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC042109.1, AK126902.1 and AL355987.31.
            On Apr 30, 2005 this sequence version replaced NP_848564.1.
            
            Summary: Members of the lipocalin family, such as LCN8, have a
            common structure consisting of an 8-stranded antiparallel
            beta-barrel that forms a cup-shaped ligand-binding pocket or calyx.
            Lipocalins generally bind small hydrophobic ligands and transport
            them to specific cells (Suzuki et al., 2004 [PubMed
            15363845]).[supplied by OMIM, Aug 2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (2)
            has a shorter and distinct N-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC132714.1, GQ891310.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA2144335 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371688.8/ ENSP00000360753.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..152
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     Protein         1..152
                     /product="epididymal-specific lipocalin-8 isoform 2"
                     /note="lipocalin 5; epididymal-specific lipocalin-8;
                     epididymis secretory sperm binding protein"
                     /calculated_mol_wt=17123
     Region          3..149
                     /region_name="lipocalin_5_8-like"
                     /note="lipocalin similar to human epididymal-specific
                     lipocalin-8, mouse lipocalin-5 and -8, and similar
                     proteins; cd19421"
                     /db_xref="CDD:381196"
     Site            order(4,6,9,13,35,37,44,46,48,59,61,63,72,74,78,80,82,91,
                     93,95,106,108,110)
                     /site_type="other"
                     /note="ligand binding cavity [chemical binding]"
                     /db_xref="CDD:381196"
     Site            order(4,6,9,13,35,37,44,46,63,72,74,78,80,82,91,93,95,108,
                     110)
                     /site_type="other"
                     /note="retinoic acid binding site [chemical binding]"
                     /db_xref="CDD:381196"
     Site            order(114,116..120,122..123,126,132,135..136,138..139)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:381196"
     CDS             1..152
                     /gene="LCN8"
                     /gene_synonym="EP17; LCN5"
                     /coded_by="NM_178469.4:314..772"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS35183.1"
                     /db_xref="GeneID:138307"
                     /db_xref="HGNC:HGNC:27038"
                     /db_xref="MIM:612902"
ORIGIN      
        1 meeldrqkig gfwrevgvas dqslvltapk rveglfltls gsnltvkvay nssgsceiek
       61 ivgseidstg kfafpghrei hvldtdyegy ailrvslmwr grnfrvlkyf trsledkdrl
      121 gfwkfrelta dtglylaarp grcaellkee li
//
LOCUS       NP_001189358             635 aa            linear   PRI 17-DEC-2022
DEFINITION  ankyrin repeat and SOCS box protein 2 isoform 1 [Homo sapiens].
ACCESSION   NP_001189358
VERSION     NP_001189358.1
DBSOURCE    REFSEQ: accession NM_001202429.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 635)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 635)
  AUTHORS   Yamak A, Hu D, Mittal N, Buikema JW, Ditta S, Lutz PG, Moog-Lutz C,
            Ellinor PT and Domian IJ.
  TITLE     Loss of Asb2 Impairs Cardiomyocyte Differentiation and Leads to
            Congenital Double Outlet Right Ventricle
  JOURNAL   iScience 23 (3), 100959 (2020)
   PUBMED   32179481
REFERENCE   3  (residues 1 to 635)
  AUTHORS   Wu W, Nie L, Zhang L and Li Y.
  TITLE     The notch pathway promotes NF-kappaB activation through Asb2 in T
            cell acute lymphoblastic leukemia cells
  JOURNAL   Cell Mol Biol Lett 23, 37 (2018)
   PUBMED   30116272
  REMARK    GeneRIF: Notch signaling can initiate Asb2 transcription and
            NF-kappa B activation in T cell acute lymphoblastic leukemia cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 635)
  AUTHORS   Cappella M, Perfetti A, Cardinali B, Garcia-Manteiga JM, Carrara M,
            Provenzano C, Fuschi P, Cardani R, Renna LV, Meola G, Falcone G and
            Martelli F.
  TITLE     High-throughput analysis of the RNA-induced silencing complex in
            myotonic dystrophy type 1 patients identifies the dysregulation of
            miR-29c and its target ASB2
  JOURNAL   Cell Death Dis 9 (7), 729 (2018)
   PUBMED   29955039
  REMARK    GeneRIF: functionally relevant miRNA/mRNA interactions were
            identified in skeletal muscles of myotonic dystrophy type 1
            patients, highlighting the dysfunction of miR-29c and ASB2.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 635)
  AUTHORS   Heuze ML, Guibal FC, Banks CA, Conaway JW, Conaway RC, Cayre YE,
            Benecke A and Lutz PG.
  TITLE     ASB2 is an Elongin BC-interacting protein that can assemble with
            Cullin 5 and Rbx1 to reconstitute an E3 ubiquitin ligase complex
  JOURNAL   J Biol Chem 280 (7), 5468-5474 (2005)
   PUBMED   15590664
REFERENCE   6  (residues 1 to 635)
  AUTHORS   Kile BT, Schulman BA, Alexander WS, Nicola NA, Martin HM and Hilton
            DJ.
  TITLE     The SOCS box: a tale of destruction and degradation
  JOURNAL   Trends Biochem Sci 27 (5), 235-241 (2002)
   PUBMED   12076535
  REMARK    Review article
REFERENCE   7  (residues 1 to 635)
  AUTHORS   Guibal FC, Moog-Lutz C, Smolewski P, Di Gioia Y, Darzynkiewicz Z,
            Lutz PG and Cayre YE.
  TITLE     ASB-2 inhibits growth and promotes commitment in myeloid leukemia
            cells
  JOURNAL   J Biol Chem 277 (1), 218-224 (2002)
   PUBMED   11682484
REFERENCE   8  (residues 1 to 635)
  AUTHORS   Kohroki J, Fujita S, Itoh N, Yamada Y, Imai H, Yumoto N, Nakanishi
            T and Tanaka K.
  TITLE     ATRA-regulated Asb-2 gene induced in differentiation of HL-60
            leukemia cells
  JOURNAL   FEBS Lett 505 (2), 223-228 (2001)
   PUBMED   11566180
REFERENCE   9  (residues 1 to 635)
  AUTHORS   Kile BT, Viney EM, Willson TA, Brodnicki TC, Cancilla MR, Herlihy
            AS, Croker BA, Baca M, Nicola NA, Hilton DJ and Alexander WS.
  TITLE     Cloning and characterization of the genes encoding the ankyrin
            repeat and SOCS box-containing proteins Asb-1, Asb-2, Asb-3 and
            Asb-4
  JOURNAL   Gene 258 (1-2), 31-41 (2000)
   PUBMED   11111040
REFERENCE   10 (residues 1 to 635)
  AUTHORS   Hilton DJ, Richardson RT, Alexander WS, Viney EM, Willson TA,
            Sprigg NS, Starr R, Nicholson SE, Metcalf D and Nicola NA.
  TITLE     Twenty proteins containing a C-terminal SOCS box form five
            structural classes
  JOURNAL   Proc Natl Acad Sci U S A 95 (1), 114-119 (1998)
   PUBMED   9419338
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB488462.1.
            
            Summary: This gene encodes a member of the ankyrin repeat and SOCS
            box-containing (ASB) protein family. These proteins play a role in
            protein degradation by coupling suppressor of cytokine signalling
            (SOCS) proteins with the elongin BC complex. The encoded protein is
            a subunit of a multimeric E3 ubiquitin ligase complex that mediates
            the degradation of actin-binding proteins. This gene plays a role
            in retinoic acid-induced growth inhibition and differentiation of
            myeloid leukemia cells. Alternatively spliced transcript variants
            encoding multiple isoforms have been observed for this gene.
            [provided by RefSeq, Jan 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138525.147346.1,
                                           DRR138525.617740.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000555019.6/ ENSP00000451575.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..635
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12"
     Protein         1..635
                     /product="ankyrin repeat and SOCS box protein 2 isoform 1"
                     /note="ankyrin repeat and SOCS box-containing protein 2a"
                     /calculated_mol_wt=70081
     Region          8..16
                     /region_name="Required for FLNA degradation.
                     /evidence=ECO:0000269|PubMed:21737450"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q27.2)"
     Region          104..133
                     /region_name="ANK 1. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q27.2)"
     Region          109..202
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          137..169
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          137..167
                     /region_name="ANK 2. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q27.2)"
     Region          171..200
                     /region_name="ANK 3. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q27.2)"
     Region          173..202
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          198..>432
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          204..235
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          204..233
                     /region_name="ANK 4. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q27.2)"
     Site            order(237,239,243..244,247..249,251..252,256,259,268,270,
                     272,276..277,280..282,284..285,289,292,301,303,305,
                     309..310,313..315,317..318,322,325,334)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          237..268
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          237..266
                     /region_name="ANK 5. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q27.2)"
     Region          270..301
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          270..299
                     /region_name="ANK 6. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q27.2)"
     Region          303..334
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          303..332
                     /region_name="ANK 7. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q27.2)"
     Region          336..365
                     /region_name="ANK 8. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q27.2)"
     Region          368..397
                     /region_name="ANK 9. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q27.2)"
     Region          368..396
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            371
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK.
                     /evidence=ECO:0000269|PubMed:24044920; propagated from
                     UniProtKB/Swiss-Prot (Q96Q27.2)"
     Region          401..440
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          410..439
                     /region_name="ANK 10. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q27.2)"
     Region          411..461
                     /region_name="Ank_4"
                     /note="Ankyrin repeats (many copies); pfam13637"
                     /db_xref="CDD:372654"
     Region          440..469
                     /region_name="ANK 11. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q27.2)"
     Region          442..469
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          473..501
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          476..504
                     /region_name="ANK 12. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q27.2)"
     Region          591..635
                     /region_name="SOCS_ASB2"
                     /note="SOCS (suppressors of cytokine signaling) box of
                     ASB2-like proteins. ASB family members have a C-terminal
                     SOCS box and an N-terminal ankyrin-related sequence. ASB2
                     targets specific proteins to destruction by the proteasome
                     in leukemia cells that have been...; cd03721"
                     /db_xref="CDD:239691"
     Site            order(592..597,603,613,619,624)
                     /site_type="other"
                     /note="putative elongin B/C interaction [polypeptide
                     binding]"
                     /db_xref="CDD:239691"
     CDS             1..635
                     /gene="ASB2"
                     /gene_synonym="ASB-2"
                     /coded_by="NM_001202429.2:211..2118"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS55940.1"
                     /db_xref="GeneID:51676"
                     /db_xref="HGNC:HGNC:16012"
                     /db_xref="MIM:605759"
ORIGIN      
        1 matqistrgs qctigqeeys lysslsedel vqmaieqsla dktrgpttae atasactnrq
       61 pahfypwtrs tappesspar apmglfqgvm qkyssslfkt sqlapadpli kaikdgdeea
      121 lktmikegkn laepnkegwl plheaayygq vgclkvlqra ypgtidqrtl qeetavylat
      181 crghldclls llqagaepdi snksretply kacerknaea vkilvqhnad tnhrcnrgwt
      241 alhesvsrnd levmqilvsg gakvesknay gitplfvaaq sgqlealrfl akygadintq
      301 asdnasalye ackneheevv efllsqgada nktnkdgllp lhiaskkgny rivqmllpvt
      361 srtrirrsgv splhlaaern hdevlealls arfdvntpla perarlyedr rssalyfavv
      421 nnnvyatell lqhgadpnrd vispllvair hgclrtmqll ldhganiday iathptafpa
      481 timfamkcls llkflmdlgc dgepcfscly gngphppapq pssrfndapa adkepsvvqf
      541 cefvsapevs rwagpiidvl ldyvgnvqlc srlkehidsf edwavikeka epprplahlc
      601 rlrvrkaigk yriklldtlp lpgrlirylk yentq
//
LOCUS       NP_036611                247 aa            linear   PRI 24-DEC-2022
DEFINITION  14-3-3 protein gamma [Homo sapiens].
ACCESSION   NP_036611
VERSION     NP_036611.2
DBSOURCE    REFSEQ: accession NM_012479.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 247)
  AUTHORS   Yi Z, Song Z, Xue J, Yang C, Li F, Pan H, Feng X, Zhang Y and Pan
            H.
  TITLE     A heterozygous missense variant in the YWHAG gene causing
            developmental and epileptic encephalopathy 56 in a Chinese family
  JOURNAL   BMC Med Genomics 15 (1), 216 (2022)
   PUBMED   36243722
  REMARK    GeneRIF: A heterozygous missense variant in the YWHAG gene causing
            developmental and epileptic encephalopathy 56 in a Chinese family.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 247)
  AUTHORS   Iodice A, Giannelli C, Soli F, Riva A and Striano P.
  TITLE     Myoclonic epilepsy of infancy related to YWHAG gene mutation:
            towards a better phenotypic characterization
  JOURNAL   Seizure 94, 161-164 (2022)
   PUBMED   34915349
  REMARK    GeneRIF: Myoclonic epilepsy of infancy related to YWHAG gene
            mutation: towards a better phenotypic characterization.
REFERENCE   3  (residues 1 to 247)
  AUTHORS   Zhou X, Wang Z, Xu B, Ji N, Meng P, Gu L and Li Y.
  TITLE     Long non-coding RNA NORAD protects against cerebral
            ischemia/reperfusion injury induced brain damage, cell apoptosis,
            oxidative stress and inflammation by regulating miR-30a-5p/YWHAG
  JOURNAL   Bioengineered 12 (2), 9174-9188 (2021)
   PUBMED   34709972
  REMARK    GeneRIF: Long non-coding RNA NORAD protects against cerebral
            ischemia/reperfusion injury induced brain damage, cell apoptosis,
            oxidative stress and inflammation by regulating miR-30a-5p/YWHAG.
REFERENCE   4  (residues 1 to 247)
  AUTHORS   Horvath M, Petrvalska O, Herman P, Obsilova V and Obsil T.
  TITLE     14-3-3 proteins inactivate DAPK2 by promoting its dimerization and
            protecting key regulatory phosphosites
  JOURNAL   Commun Biol 4 (1), 986 (2021)
   PUBMED   34413451
  REMARK    GeneRIF: 14-3-3 proteins inactivate DAPK2 by promoting its
            dimerization and protecting key regulatory phosphosites.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 247)
  AUTHORS   Soini L, Leysen S, Crabbe T, Davis J and Ottmann C.
  TITLE     The identification and structural analysis of potential 14-3-3
            interaction sites on the bone regulator protein Schnurri-3
  JOURNAL   Acta Crystallogr F Struct Biol Commun 77 (Pt 8), 254-261 (2021)
   PUBMED   34341191
REFERENCE   6  (residues 1 to 247)
  AUTHORS   Vincenz C and Dixit VM.
  TITLE     14-3-3 proteins associate with A20 in an isoform-specific manner
            and function both as chaperone and adapter molecules
  JOURNAL   J Biol Chem 271 (33), 20029-20034 (1996)
   PUBMED   8702721
REFERENCE   7  (residues 1 to 247)
  AUTHORS   Golsteyn RM, Mundt KE, Fry AM and Nigg EA.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
REFERENCE   8  (residues 1 to 247)
  AUTHORS   Morrison D.
  TITLE     14-3-3: modulators of signaling proteins?
  JOURNAL   Science 266 (5182), 56-57 (1994)
   PUBMED   7939645
  REMARK    Review article
REFERENCE   9  (residues 1 to 247)
  AUTHORS   Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and
            Morton CC.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
REFERENCE   10 (residues 1 to 247)
  AUTHORS   Roth D, Morgan A, Martin H, Jones D, Martens GJ, Aitken A and
            Burgoyne RD.
  TITLE     Characterization of 14-3-3 proteins in adrenal chromaffin cells and
            demonstration of isoform-specific phospholipid binding
  JOURNAL   Biochem J 301 (Pt 1) (Pt 1), 305-310 (1994)
   PUBMED   8037685
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC020963.2, AB024334.1,
            AC006388.3 and BI495132.1.
            On Jun 18, 2002 this sequence version replaced NP_036611.1.
            
            Summary: This gene product belongs to the 14-3-3 family of proteins
            which mediate signal transduction by binding to
            phosphoserine-containing proteins. This highly conserved protein
            family is found in both plants and mammals, and this protein is
            100% identical to the rat ortholog. It is induced by growth factors
            in human vascular smooth muscle cells, and is also highly expressed
            in skeletal and heart muscles, suggesting an important role for
            this protein in muscle tissue. It has been shown to interact with
            RAF1 and protein kinase C, proteins involved in various signal
            transduction pathways. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC020963.2, AK024230.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307630.5/ ENSP00000306330.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..247
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     Protein         1..247
                     /product="14-3-3 protein gamma"
                     /note="KCIP-1; protein kinase C inhibitor protein 1;
                     tyrosine 3-monooxygenase/tryptophan 5-monooxygenase
                     activation protein, gamma polypeptide; protein phosphatase
                     1, regulatory subunit 170"
                     /calculated_mol_wt=28172
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine, in 14-3-3 protein gamma,
                     alternate, partial. /evidence=ECO:0000269|Ref.7;
                     propagated from UniProtKB/Swiss-Prot (P61981.2)"
     Region          2..247
                     /region_name="14-3-3_gamma"
                     /note="14-3-3 gamma, an isoform of 14-3-3 protein;
                     cd10024"
                     /db_xref="CDD:206760"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylvaline, in 14-3-3 protein gamma,
                     N-terminally processed, partial.
                     /evidence=ECO:0000269|PubMed:14534293, ECO:0000269|Ref.7,
                     ECO:0000269|Ref.9, ECO:0007744|PubMed:19413330;
                     N-acetylvaline, partial.
                     /evidence=ECO:0000269|PubMed:14534293, ECO:0000269|Ref.7,
                     ECO:0000269|Ref.9, ECO:0007744|PubMed:19413330; propagated
                     from UniProtKB/Swiss-Prot (P61981.2)"
     Site            order(6,9..10,13..14,16..17,19,22,59,62..63,66,77..78,
                     81..82,85,88..89,92)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:206760"
     Site            order(50,57,125,132..133,177..178,181,222,225,229,
                     232..233)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:206760"
     Site            57
                     /site_type="other"
                     /note="Interaction with phosphoserine on interacting
                     protein; propagated from UniProtKB/Swiss-Prot (P61981.2)"
     Site            71
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P61981.2)"
     Site            132
                     /site_type="other"
                     /note="Interaction with phosphoserine on interacting
                     protein; propagated from UniProtKB/Swiss-Prot (P61981.2)"
     Site            133
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P61983; propagated from
                     UniProtKB/Swiss-Prot (P61981.2)"
     Site            145
                     /site_type="phosphorylation"
                     /note="Phosphothreonine. /evidence=ECO:0000269|Ref.7;
                     propagated from UniProtKB/Swiss-Prot (P61981.2)"
     Site            215
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P61983; propagated from
                     UniProtKB/Swiss-Prot (P61981.2)"
     Site            234
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P61981.2)"
     Site            235
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P61981.2)"
     CDS             1..247
                     /gene="YWHAG"
                     /gene_synonym="14-3-3GAMMA; DEE56; EIEE56; PPP1R170"
                     /coded_by="NM_012479.4:184..927"
                     /db_xref="CCDS:CCDS5584.1"
                     /db_xref="GeneID:7532"
                     /db_xref="HGNC:HGNC:12852"
                     /db_xref="MIM:605356"
ORIGIN      
        1 mvdreqlvqk arlaeqaery ddmaaamknv telneplsne ernllsvayk nvvgarrssw
       61 rvissieqkt sadgnekkie mvrayrekie keleavcqdv lslldnylik ncsetqyesk
      121 vfylkmkgdy yrylaevatg ekratvvess ekayseahei skehmqpthp irlglalnys
      181 vfyyeiqnap eqachlakta fddaiaeldt lnedsykdst limqllrdnl tlwtsdqqdd
      241 dggegnn
//
LOCUS       NP_653326                361 aa            linear   PRI 26-DEC-2022
DEFINITION  tetratricopeptide repeat protein 23-like isoform 2 [Homo sapiens].
ACCESSION   NP_653326
VERSION     NP_653326.3
DBSOURCE    REFSEQ: accession NM_144725.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 361)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 361)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 361)
  AUTHORS   Pan TL, Hsu SY, Wang PW, Cheng YT, Chang YC, Saha S, Hu J and
            Ouyang P.
  TITLE     FLJ25439, a novel cytokinesis-associated protein, induces
            tetraploidization and maintains chromosomal stability via enhancing
            expression of endoplasmic reticulum stress chaperones
  JOURNAL   Cell Cycle 14 (8), 1174-1187 (2015)
   PUBMED   25751302
  REMARK    GeneRIF: FLJ25439 is involved in pathways related to
            anti-apoptosis, protein folding, the cell cycle, and cytoskeleton
            regulation.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK058168.1, BC057775.1, BX088767.1 and AC026801.7.
            On Oct 13, 2006 this sequence version replaced NP_653326.2.
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, initiates translation at a
            downstream start site, and contains a shorter 3' UTR, compared to
            variant 1. The encoded isoform (2) has a shorter N-terminus than
            isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK058168.1, BC057775.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000505624.6/ ENSP00000422188.1
            NMD candidate          :: PMID: 25751302
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..361
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     Protein         1..361
                     /product="tetratricopeptide repeat protein 23-like isoform
                     2"
                     /note="tetratricopeptide repeat protein 23-like"
                     /calculated_mol_wt=40706
     Region          253..332
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     CDS             1..361
                     /gene="TTC23L"
                     /gene_synonym="MC25-1"
                     /coded_by="NM_144725.4:104..1189"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS54840.1"
                     /db_xref="GeneID:153657"
                     /db_xref="HGNC:HGNC:26355"
                     /db_xref="MIM:616344"
ORIGIN      
        1 mqaspiript vsndidwdfc fhmsqqteip ahqqtdelyp tggcgeseee tkakekekai
       61 dcmshpkekl aqsqkkvaql ikekmntqan kelircvils riifgdhhwk caralanlay
      121 gyltlrglpv qakkhatsak ntlltwkant tsnkekeeil ealvklyytl gvawllqnrg
      181 reayfnlqka ernmkelkel ykggvcelqv sendltlalg raslaihrln lalayfekai
      241 gdviaakgdr tsdlislyee aaqieqlrrn hnqaiqylqq ahsvcvslft evspktaems
      301 allakayams geaqhrdave iyfirsinay ratlgsedfe tlstteefck wlvqngekqd
      361 k
//
LOCUS       NP_003368                207 aa            linear   PRI 26-DEC-2022
DEFINITION  vascular endothelial growth factor B isoform VEGFB-186 precursor
            [Homo sapiens].
ACCESSION   NP_003368 XP_943576
VERSION     NP_003368.1
DBSOURCE    REFSEQ: accession NM_003377.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 207)
  AUTHORS   Wei Y, Han S, Zhou R, Xu P, Zhou L, Zhu Z, Kan Y, Yang X, Xiang Y,
            Cao Y, Jin Y, Yan J, Yu X, Wang X and Shang W.
  TITLE     Increased Serum VEGF-B Level Is Associated With Renal Function
            Impairment in Patients With Type 2 Diabetes
  JOURNAL   Front Endocrinol (Lausanne) 13, 862545 (2022)
   PUBMED   35399943
  REMARK    GeneRIF: Increased Serum VEGF-B Level Is Associated With Renal
            Function Impairment in Patients With Type 2 Diabetes.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 207)
  AUTHORS   Mota F, Yelland T, Hutton JA, Parker J, Patsiarika A, Chan AWE,
            O'Leary A, Fotinou C, Martin JF, Zachary IC, Djordjevic S, Frankel
            P and Selwood DL.
  TITLE     Peptides Derived from Vascular Endothelial Growth Factor B Show
            Potent Binding to Neuropilin-1
  JOURNAL   Chembiochem 23 (1), e202100463 (2022)
   PUBMED   34647407
  REMARK    GeneRIF: Peptides Derived from Vascular Endothelial Growth Factor B
            Show Potent Binding to Neuropilin-1.
REFERENCE   3  (residues 1 to 207)
  AUTHORS   Cirac A, Tsaktanis T, Beyer T, Linnerbauer M, Andlauer T, Grummel
            V, Nirschl L, Loesslein L, Quintana FJ, Hemmer B and Rothhammer V.
  TITLE     The Aryl Hydrocarbon Receptor-Dependent TGF-alpha/VEGF-B Ratio
            Correlates With Disease Subtype and Prognosis in Multiple Sclerosis
  JOURNAL   Neurol Neuroimmunol Neuroinflamm 8 (5), e1043 (2021)
   PUBMED   34301821
  REMARK    GeneRIF: The Aryl Hydrocarbon Receptor-Dependent TGF-alpha/VEGF-B
            Ratio Correlates With Disease Subtype and Prognosis in Multiple
            Sclerosis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 207)
  AUTHORS   Ma Y, Wang W, Liu L, Liu Y and Bi W.
  TITLE     Co-expression of VEGF-B and FLT-1 correlates with malignancy and
            prognosis of gastric cancer
  JOURNAL   Biomark Med 15 (7), 481-488 (2021)
   PUBMED   33856262
  REMARK    GeneRIF: Co-expression of VEGF-B and FLT-1 correlates with
            malignancy and prognosis of gastric cancer.
REFERENCE   5  (residues 1 to 207)
  AUTHORS   Cai WY, Dong ZN, Fu XT, Lin LY, Wang L, Ye GD, Luo QC and Chen YC.
  TITLE     Identification of a Tumor Microenvironment-relevant Gene set-based
            Prognostic Signature and Related Therapy Targets in Gastric Cancer
  JOURNAL   Theranostics 10 (19), 8633-8647 (2020)
   PUBMED   32754268
  REMARK    GeneRIF: Identification of a Tumor Microenvironment-relevant Gene
            set-based Prognostic Signature and Related Therapy Targets in
            Gastric Cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 207)
  AUTHORS   Wartiovaara U, Salven P, Mikkola H, Lassila R, Kaukonen J, Joukov
            V, Orpana A, Ristimaki A, Heikinheimo M, Joensuu H, Alitalo K and
            Palotie A.
  TITLE     Peripheral blood platelets express VEGF-C and VEGF which are
            released during platelet activation
  JOURNAL   Thromb Haemost 80 (1), 171-175 (1998)
   PUBMED   9684805
REFERENCE   7  (residues 1 to 207)
  AUTHORS   Joukov V, Kaipainen A, Jeltsch M, Pajusola K, Olofsson B, Kumar V,
            Eriksson U and Alitalo K.
  TITLE     Vascular endothelial growth factors VEGF-B and VEGF-C
  JOURNAL   J Cell Physiol 173 (2), 211-215 (1997)
   PUBMED   9365524
  REMARK    Review article
REFERENCE   8  (residues 1 to 207)
  AUTHORS   Olofsson B, Pajusola K, von Euler G, Chilov D, Alitalo K and
            Eriksson U.
  TITLE     Genomic organization of the mouse and human genes for vascular
            endothelial growth factor B (VEGF-B) and characterization of a
            second splice isoform
  JOURNAL   J Biol Chem 271 (32), 19310-19317 (1996)
   PUBMED   8702615
REFERENCE   9  (residues 1 to 207)
  AUTHORS   Olofsson B, Pajusola K, Kaipainen A, von Euler G, Joukov V, Saksela
            O, Orpana A, Pettersson RF, Alitalo K and Eriksson U.
  TITLE     Vascular endothelial growth factor B, a novel growth factor for
            endothelial cells
  JOURNAL   Proc Natl Acad Sci U S A 93 (6), 2576-2581 (1996)
   PUBMED   8637916
REFERENCE   10 (residues 1 to 207)
  AUTHORS   Grimmond S, Lagercrantz J, Drinkwater C, Silins G, Townson S,
            Pollock P, Gotley D, Carson E, Rakar S, Nordenskjold M, Ward L,
            Hayward N and Weber G.
  TITLE     Cloning and characterization of a novel human gene related to
            vascular endothelial growth factor
  JOURNAL   Genome Res 6 (2), 124-131 (1996)
   PUBMED   8919691
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001453.6, BC008818.2,
            BM694361.1 and BU730521.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 4, 2006 this sequence version replaced XP_943576.1.
            
            Summary: This gene encodes a member of the PDGF (platelet-derived
            growth factor)/VEGF (vascular endothelial growth factor) family.
            The VEGF family members regulate the formation of blood vessels and
            are involved in endothelial cell physiology. This member is a
            ligand for VEGFR-1 (vascular endothelial growth factor receptor 1)
            and NRP-1 (neuropilin-1). Studies in mice showed that this gene was
            co-expressed with nuclear-encoded mitochondrial genes and the
            encoded protein specifically controlled endothelial uptake of fatty
            acids. Alternatively spliced transcript variants encoding distinct
            isoforms have been identified. [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (VEGFB-186) encodes the longer
            isoform (VEGFB-186, also known as VRF186). This isoform lacks the
            heparin binding domain and is secreted freely from cells.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.169474.1, BC008818.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309422.7/ ENSP00000311127.2
            RefSeq Select criteria :: based on manual assertion, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..207
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     Protein         1..207
                     /product="vascular endothelial growth factor B isoform
                     VEGFB-186 precursor"
                     /note="VEGF-related factor"
                     /calculated_mol_wt=19360
     sig_peptide     1..21
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P49765.2)"
                     /calculated_mol_wt=2260
     mat_peptide     22..207
                     /product="Vascular endothelial growth factor B.
                     /id=PRO_0000023398"
                     /note="propagated from UniProtKB/Swiss-Prot (P49765.2)"
                     /calculated_mol_wt=19360
     Region          45..126
                     /region_name="PDGF"
                     /note="Platelet-derived and vascular endothelial growth
                     factors (PDGF, VEGF) family; smart00141"
                     /db_xref="CDD:197537"
     Site            order(45..48,82,84..87,102..105)
                     /site_type="active"
                     /note="receptor binding interface [active]"
                     /db_xref="CDD:238079"
     Site            order(47,78,82,89,122,124)
                     /site_type="other"
                     /note="cysteine knot motif"
                     /db_xref="CDD:238079"
     Site            order(72,81)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238079"
     Region          108..>188
                     /region_name="PHA03269"
                     /note="envelope glycoprotein C; Provisional"
                     /db_xref="CDD:165527"
     Region          122..207
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P49765.2)"
     CDS             1..207
                     /gene="VEGFB"
                     /gene_synonym="VEGFL; VRF"
                     /coded_by="NM_003377.5:251..874"
                     /note="isoform VEGFB-186 precursor is encoded by
                     transcript variant VEGFB-186"
                     /db_xref="CCDS:CCDS8062.1"
                     /db_xref="GeneID:7423"
                     /db_xref="HGNC:HGNC:12681"
                     /db_xref="MIM:601398"
ORIGIN      
        1 mspllrrlll aallqlapaq apvsqpdapg hqrkvvswid vytratcqpr evvvpltvel
       61 mgtvakqlvp scvtvqrcgg ccpddglecv ptgqhqvrmq ilmirypssq lgemsleehs
      121 qcecrpkkkd savkpdraat phhrpqprsv pgwdsapgap spadithptp apgpsahaap
      181 sttsaltpgp aaaaadaaas svakgga
//
LOCUS       NP_001316371             528 aa            linear   PRI 27-DEC-2022
DEFINITION  protein phosphatase 1 regulatory subunit 16A [Homo sapiens].
ACCESSION   NP_001316371 XP_016869401
VERSION     NP_001316371.1
DBSOURCE    REFSEQ: accession NM_001329442.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 528)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 528)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 528)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 528)
  AUTHORS   Yadav L, Tamene F, Goos H, van Drogen A, Katainen R, Aebersold R,
            Gstaiger M and Varjosalo M.
  TITLE     Systematic Analysis of Human Protein Phosphatase Interactions and
            Dynamics
  JOURNAL   Cell Syst 4 (4), 430-444 (2017)
   PUBMED   28330616
REFERENCE   5  (residues 1 to 528)
  AUTHORS   Burkhardt R, Kirsten H, Beutner F, Holdt LM, Gross A, Teren A,
            Tonjes A, Becker S, Krohn K, Kovacs P, Stumvoll M, Teupser D,
            Thiery J, Ceglarek U and Scholz M.
  TITLE     Integration of Genome-Wide SNP Data and Gene-Expression Profiles
            Reveals Six Novel Loci and Regulatory Mechanisms for Amino Acids
            and Acylcarnitines in Whole Blood
  JOURNAL   PLoS Genet 11 (9), e1005510 (2015)
   PUBMED   26401656
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 528)
  AUTHORS   Igci YZ, Arslan A, Akarsu E, Erkilic S, Igci M, Oztuzcu S, Cengiz
            B, Gogebakan B, Cakmak EA and Demiryurek AT.
  TITLE     Differential expression of a set of genes in follicular and classic
            variants of papillary thyroid carcinoma
  JOURNAL   Endocr Pathol 22 (2), 86-96 (2011)
   PUBMED   21509594
  REMARK    GeneRIF: PPP1R16A gene expression is decreased in follicular
            variant of papillary thyroid carcinoma.
REFERENCE   7  (residues 1 to 528)
  AUTHORS   Yong J, Tan I, Lim L and Leung T.
  TITLE     Phosphorylation of myosin phosphatase targeting subunit 3 (MYPT3)
            and regulation of protein phosphatase 1 by protein kinase A
  JOURNAL   J Biol Chem 281 (42), 31202-31211 (2006)
   PUBMED   16920702
  REMARK    GeneRIF: analysis of a novel mechanism for the phosphorylation of
            MYPT3 by PKA and activation of the catalytic activity through
            direct interaction of a central region of MYPT3 with its N-terminal
            region
REFERENCE   8  (residues 1 to 528)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   9  (residues 1 to 528)
  AUTHORS   Ceulemans H, Stalmans W and Bollen M.
  TITLE     Regulator-driven functional diversification of protein
            phosphatase-1 in eukaryotic evolution
  JOURNAL   Bioessays 24 (4), 371-381 (2002)
   PUBMED   11948623
  REMARK    Review article
REFERENCE   10 (residues 1 to 528)
  AUTHORS   Skinner JA and Saltiel AR.
  TITLE     Cloning and identification of MYPT3: a prenylatable myosin
            targetting subunit of protein phosphatase 1
  JOURNAL   Biochem J 356 (Pt 1), 257-267 (2001)
   PUBMED   11336659
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB457525.1, AC084125.9,
            HY013777.1, HY168641.1 and BC053506.1.
            On Jul 13, 2016 this sequence version replaced XP_016869401.1.
            
            Summary: Myosin light chain kinase and phosphatase (MLCP) complexes
            control the phosphorylation states of regulatory myosin light
            chains, which is crucial for muscle and intracellular movement.
            MLCPs typically contain a catalytic protein phosphatase 1 (PP1c)
            subunit, a myosin phosphatase targeting (MYPT) subunit, and another
            smaller subunit. The protein encoded by this gene represents an
            MYPT subunit, which is responsible for directing PP1c to its
            intended targets. However, while the phosphorylation of other MYPT
            members results in PP1c inactivation, phosphorylation of the
            encoded protein by protein kinase A results in PP1c activation.
            [provided by RefSeq, Jan 2020].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. All five variants encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: BC015896.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1968968, SAMEA2142680 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..528
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..528
                     /product="protein phosphatase 1 regulatory subunit 16A"
                     /note="myosin phosphatase-targeting subunit 3; protein
                     phosphatase 1, regulatory (inhibitor) subunit 16A"
                     /calculated_mol_wt=57680
     mat_peptide     1..525
                     /product="Protein phosphatase 1 regulatory subunit 16A.
                     /id=PRO_0000067040"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I34.1)"
                     /calculated_mol_wt=57454
     Region          19..59
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I34.1)"
     Region          70..99
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I34.1)"
     Region          74..>327
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          75..101
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(76..77,80..82,84..85,89,92,101,103,105,109..110,
                     113..115,117..118,122,125,134,136,138,142..143,146..148,
                     150..151,155,158,167)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          103..134
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          103..132
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I34.1)"
     Region          136..167
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          136..165
                     /region_name="ANK 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I34.1)"
     Site            order(200..201,204..205,210,212..213,217,220,229,231,233,
                     237..238,241..243,245..246,250,253,262,264,266,270..271,
                     274..276,278..279,283,286)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          231..262
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          231..260
                     /region_name="ANK 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I34.1)"
     Region          264..294
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          264..293
                     /region_name="ANK 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I34.1)"
     Region          330..351
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I34.1)"
     Region          367..421
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I34.1)"
     Site            433
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96I34.1)"
     Region          462..505
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I34.1)"
     Site            525
                     /site_type="methylation"
                     /note="Cysteine methyl ester.
                     /evidence=ECO:0000250|UniProtKB:Q923M0; propagated from
                     UniProtKB/Swiss-Prot (Q96I34.1)"
     CDS             1..528
                     /gene="PPP1R16A"
                     /gene_synonym="MYPT3"
                     /coded_by="NM_001329442.2:1134..2720"
                     /db_xref="CCDS:CCDS6429.1"
                     /db_xref="GeneID:84988"
                     /db_xref="HGNC:HGNC:14941"
                     /db_xref="MIM:609172"
ORIGIN      
        1 maehlellae mpmvgrmstq erlkhaqkrr aqqvkmwaqa ekeaqgkkgp gerprkeaas
       61 qgllkqvlfp psvvlleaaa rndleevrqf lgsgvspdla nedgltalhq cciddfremv
      121 qqlleagani nacdsecwtp lhaaatcghl hlvelliasg anllavntdg nmpydlcdde
      181 qtldcletam adrgitqdsi eaaravpelr mlddirsrlq agadlhapld hgatllhvaa
      241 angfseaaal llehraslsa kdqdgweplh aaaywgqvpl vellvahgad lnakslmdet
      301 pldvcgdeev rakllelkhk hdallraqsr qrsllrrrts sagsrgkvvr rvsltqrtdl
      361 yrkqhaqeai vwqqppptsp eppednddrq tgaelrpppp eednpevvrp hngrvggspv
      421 rhlyskrldr svsyqlspld sttphtlvhd kahhtladlk rqraaaklqr pppegpespe
      481 taepglpgdt vtpqpdcgfr aggdppllkl tapaveapve rrpccllm
//
LOCUS       NP_001363339             487 aa            linear   PRI 27-DEC-2022
DEFINITION  CUGBP Elav-like family member 1 isoform 10 [Homo sapiens].
ACCESSION   NP_001363339
VERSION     NP_001363339.1
DBSOURCE    REFSEQ: accession NM_001376410.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 487)
  AUTHORS   David G, Reboutier D, Deschamps S, Mereau A, Taylor W,
            Padilla-Parra S, Tramier M, Audic Y and Paillard L.
  TITLE     The RNA-binding proteins CELF1 and ELAVL1 cooperatively control the
            alternative splicing of CD44
  JOURNAL   Biochem Biophys Res Commun 626, 79-84 (2022)
   PUBMED   35973378
  REMARK    GeneRIF: The RNA-binding proteins CELF1 and ELAVL1 cooperatively
            control the alternative splicing of CD44.
REFERENCE   2  (residues 1 to 487)
  AUTHORS   Zhao X, Wang J, Zhu R, Zhang J and Zhang Y.
  TITLE     DLX6-AS1 activated by H3K4me1 enhanced secondary cisplatin
            resistance of lung squamous cell carcinoma through modulating
            miR-181a-5p/miR-382-5p/CELF1 axis
  JOURNAL   Sci Rep 11 (1), 21014 (2021)
   PUBMED   34697393
  REMARK    GeneRIF: DLX6-AS1 activated by H3K4me1 enhanced secondary cisplatin
            resistance of lung squamous cell carcinoma through modulating
            miR-181a-5p/miR-382-5p/CELF1 axis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 487)
  AUTHORS   Liu C, Wang H, Tang L, Huang H, Xu M, Lin Y, Zhou L, Ho L, Lu J and
            Ai X.
  TITLE     LncRNA BACE1-AS enhances the invasive and metastatic capacity of
            hepatocellular carcinoma cells through mediating miR-377-3p/CELF1
            axis
  JOURNAL   Life Sci 275, 119288 (2021)
   PUBMED   33667514
  REMARK    GeneRIF: LncRNA BACE1-AS enhances the invasive and metastatic
            capacity of hepatocellular carcinoma cells through mediating
            miR-377-3p/CELF1 axis.
REFERENCE   4  (residues 1 to 487)
  AUTHORS   Jin H, Liang G, Yang L, Liu L, Wang B and Yan F.
  TITLE     SP1-induced AFAP1-AS1 contributes to proliferation and invasion by
            regulating miR-497-5p/CELF1 pathway in nasopharyngeal carcinoma
  JOURNAL   Hum Cell 34 (2), 491-501 (2021)
   PUBMED   33400247
  REMARK    GeneRIF: SP1-induced AFAP1-AS1 contributes to proliferation and
            invasion by regulating miR-497-5p/CELF1 pathway in nasopharyngeal
            carcinoma.
REFERENCE   5  (residues 1 to 487)
  AUTHORS   Wang H, Huang R, Guo W, Qin X, Yang Z, Yuan Z, Wei Y, Mo C, Zeng Z,
            Luo J, Cai J and Wang H.
  TITLE     RNA-binding protein CELF1 enhances cell migration, invasion, and
            chemoresistance by targeting ETS2 in colorectal cancer
  JOURNAL   Clin Sci (Lond) 134 (14), 1973-1990 (2020)
   PUBMED   32677671
  REMARK    GeneRIF: RNA-binding protein CELF1 enhances cell migration,
            invasion, and chemoresistance by targeting ETS2 in colorectal
            cancer.
REFERENCE   6  (residues 1 to 487)
  AUTHORS   Michalowski S, Miller JW, Urbinati CR, Paliouras M, Swanson MS and
            Griffith J.
  TITLE     Visualization of double-stranded RNAs from the myotonic dystrophy
            protein kinase gene and interactions with CUG-binding protein
  JOURNAL   Nucleic Acids Res 27 (17), 3534-3542 (1999)
   PUBMED   10446244
REFERENCE   7  (residues 1 to 487)
  AUTHORS   Roberts R, Timchenko NA, Miller JW, Reddy S, Caskey CT, Swanson MS
            and Timchenko LT.
  TITLE     Altered phosphorylation and intracellular distribution of a (CUG)n
            triplet repeat RNA-binding protein in patients with myotonic
            dystrophy and in myotonin protein kinase knockout mice
  JOURNAL   Proc Natl Acad Sci U S A 94 (24), 13221-13226 (1997)
   PUBMED   9371827
REFERENCE   8  (residues 1 to 487)
  AUTHORS   Timchenko LT, Miller JW, Timchenko NA, DeVore DR, Datar KV, Lin L,
            Roberts R, Caskey CT and Swanson MS.
  TITLE     Identification of a (CUG)n triplet repeat RNA-binding protein and
            its expression in myotonic dystrophy
  JOURNAL   Nucleic Acids Res 24 (22), 4407-4414 (1996)
   PUBMED   8948631
REFERENCE   9  (residues 1 to 487)
  AUTHORS   Bhagavati S, Ghatpande A and Leung B.
  TITLE     Identification of two nuclear proteins which bind to RNA CUG
            repeats: significance for myotonic dystrophy
  JOURNAL   Biochem Biophys Res Commun 228 (1), 55-62 (1996)
   PUBMED   8912635
  REMARK    Erratum:[Biochem Biophys Res Commun. 2008 Jun;370(3):530. Bhagwati,
            S [corrected to Bhagavati, S]]
REFERENCE   10 (residues 1 to 487)
  AUTHORS   Timchenko LT, Timchenko NA, Caskey CT and Roberts R.
  TITLE     Novel proteins with binding specificity for DNA CTG repeats and RNA
            CUG repeats: implications for myotonic dystrophy
  JOURNAL   Hum Mol Genet 5 (1), 115-121 (1996)
   PUBMED   8789448
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090559.7.
            
            Summary: Members of the CELF/BRUNOL protein family contain two
            N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM
            domain, and a divergent segment of 160-230 aa between the second
            and third RRM domains. Members of this protein family regulate
            pre-mRNA alternative splicing and may also be involved in mRNA
            editing, and translation. This gene may play a role in myotonic
            dystrophy type 1 (DM1) via interactions with the dystrophia
            myotonica-protein kinase (DMPK) gene. Alternative splicing results
            in multiple transcript variants encoding different isoforms.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.5307.1,
                                           SRR11853560.5218.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..487
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..487
                     /product="CUGBP Elav-like family member 1 isoform 10"
                     /note="CUG RNA-binding protein; embryo deadenylation
                     element binding protein; nuclear polyadenylated
                     RNA-binding protein, 50-kD; bruno-like 2; CUG-BP- and
                     ETR-3-like factor 1; EDEN-BP homolog; bruno-like protein
                     2; deadenylation factor CUG-BP; RNA-binding protein
                     BRUNOL-2; CUG triplet repeat RNA-binding protein 1; 50 kDa
                     nuclear polyadenylated RNA-binding protein; embryo
                     deadenylation element-binding protein homolog"
                     /calculated_mol_wt=52003
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q92879.2)"
     Site            4
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92879.2)"
     Region          15..98
                     /region_name="RRM1_CELF1_2_Bruno"
                     /note="RNA recognition motif 1 (RRM1) found in CUGBP
                     Elav-like family member CELF-1, CELF-2, Drosophila
                     melanogaster Bruno protein and similar proteins; cd12631"
                     /db_xref="CDD:410040"
     Site            order(19,21..22,25,46..49,51..52,59..61,63,93,95,97..98)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410040"
     Region          107..187
                     /region_name="RRM2_CELF1_2"
                     /note="RNA recognition motif 2 (RRM2) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12634"
                     /db_xref="CDD:410042"
     Site            order(109,111,113..114,117,136,138,140,148..150,152,
                     178..179,182,184,186..187)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410042"
     Site            179
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92879.2)"
     Site            303
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P28659; propagated from
                     UniProtKB/Swiss-Prot (Q92879.2)"
     Region          395..486
                     /region_name="RRM3_CELF1_2"
                     /note="RNA recognition motif 3 (RRM3) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12638"
                     /db_xref="CDD:241082"
     CDS             1..487
                     /gene="CELF1"
                     /gene_synonym="BRUNOL2; CUG-BP; CUGBP; CUGBP1; EDEN-BP;
                     hNab50; NAB50; NAPOR"
                     /coded_by="NM_001376410.1:263..1726"
                     /note="isoform 10 is encoded by transcript variant 39"
                     /db_xref="GeneID:10658"
                     /db_xref="HGNC:HGNC:2549"
                     /db_xref="MIM:601074"
ORIGIN      
        1 mngtldhpdq pdldaikmfv gqvprtwsek dlrelfeqyg avyeinvlrd rsqnppqskg
       61 ccfvtfytrk aaleaqnalh nmkvlpgmhh piqmkpadse knnavedrkl figmiskkct
      121 endirvmfss fgqieecril rgpdglsrgc afvtfttram aqtaikamhq aqtmegcssp
      181 mvvkfadtqk dkeqkrmaqq lqqqmqqisa asvwgnlagl ntlgpqylal ylqllqqtas
      241 sgnlntlssl hpmgglnamq lqnlaalaaa asaaqntpsg tnalttsssp lsvltssags
      301 spsssssnsv npiaslgalq tlagatagln vgslagmaal ngglgssgls ngtgstmeal
      361 tqaysgiqqy aaaalptlyn qnlltqqsig aagsqkegpe ganlfiyhlp qefgdqdllq
      421 mfmpfgnvvs akvfidkqtn lskcfgfvsy dnpvsaqaai qsmngfqigm krlkvqlkrs
      481 kndskpy
//
LOCUS       NP_001027024             579 aa            linear   PRI 28-DEC-2022
DEFINITION  protein inscuteable homolog isoform a [Homo sapiens].
ACCESSION   NP_001027024 XP_370613
VERSION     NP_001027024.3
DBSOURCE    REFSEQ: accession NM_001031853.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 579)
  AUTHORS   Wang K, Xu C, Smith A, Xiao D, Navia RO, Lu Y, Xie C and
            Piamjariyakul U.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Genome-wide association study identified INSC gene associated with
            Trail Making Test Part A and Alzheimer's disease related cognitive
            phenotypes
  JOURNAL   Prog Neuropsychopharmacol Biol Psychiatry 111, 110393 (2021)
   PUBMED   34224794
  REMARK    GeneRIF: Genome-wide association study identified INSC gene
            associated with Trail Making Test Part A and Alzheimer's disease
            related cognitive phenotypes.
REFERENCE   2  (residues 1 to 579)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 579)
  AUTHORS   Culurgioni S, Mari S, Bonetti P, Gallini S, Bonetto G, Brennich M,
            Round A, Nicassio F and Mapelli M.
  TITLE     Insc:LGN tetramers promote asymmetric divisions of mammary stem
            cells
  JOURNAL   Nat Commun 9 (1), 1025 (2018)
   PUBMED   29523789
  REMARK    GeneRIF: In mammary stem cells, the asymmetric domain of Insc bound
            to LGN:Galphai(GDP) suffices to drive asymmetric fate, and reverts
            aberrant symmetric divisions induced by p53 loss.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 579)
  AUTHORS   St Pourcain B, Cents RA, Whitehouse AJ, Haworth CM, Davis OS,
            O'Reilly PF, Roulstone S, Wren Y, Ang QW, Velders FP, Evans DM,
            Kemp JP, Warrington NM, Miller L, Timpson NJ, Ring SM, Verhulst FC,
            Hofman A, Rivadeneira F, Meaburn EL, Price TS, Dale PS, Pillas D,
            Yliherva A, Rodriguez A, Golding J, Jaddoe VW, Jarvelin MR, Plomin
            R, Pennell CE, Tiemeier H and Davey Smith G.
  TITLE     Common variation near ROBO2 is associated with expressive
            vocabulary in infancy
  JOURNAL   Nat Commun 5, 4831 (2014)
   PUBMED   25226531
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 579)
  AUTHORS   Tanikawa C, Okada Y, Takahashi A, Oda K, Kamatani N, Kubo M,
            Nakamura Y and Matsuda K.
  TITLE     Genome wide association study of age at menarche in the Japanese
            population
  JOURNAL   PLoS One 8 (5), e63821 (2013)
   PUBMED   23667675
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 579)
  AUTHORS   Tao S, Wang Z, Feng J, Hsu FC, Jin G, Kim ST, Zhang Z, Gronberg H,
            Zheng LS, Isaacs WB, Xu J and Sun J.
  TITLE     A genome-wide search for loci interacting with known prostate
            cancer risk-associated genetic variants
  JOURNAL   Carcinogenesis 33 (3), 598-603 (2012)
   PUBMED   22219177
REFERENCE   7  (residues 1 to 579)
  AUTHORS   Yuzawa S, Kamakura S, Iwakiri Y, Hayase J and Sumimoto H.
  TITLE     Structural basis for interaction between the conserved cell
            polarity proteins Inscuteable and Leu-Gly-Asn repeat-enriched
            protein (LGN)
  JOURNAL   Proc Natl Acad Sci U S A 108 (48), 19210-19215 (2011)
   PUBMED   22074847
  REMARK    GeneRIF: mInsc-LGN interaction is vital for stabilization of LGN
            and for intracellular localization of mInsc.
REFERENCE   8  (residues 1 to 579)
  AUTHORS   Vural A, Oner S, An N, Simon V, Ma D, Blumer JB and Lanier SM.
  TITLE     Distribution of activator of G-protein signaling 3 within the
            aggresomal pathway: role of specific residues in the
            tetratricopeptide repeat domain and differential regulation by the
            AGS3 binding partners Gi(alpha) and mammalian inscuteable
  JOURNAL   Mol Cell Biol 30 (6), 1528-1540 (2010)
   PUBMED   20065032
  REMARK    GeneRIF: These data present AGS3, G-proteins, and mInsc as
            candidate proteins involved in regulating cellular stress
            associated with protein-processing pathologies.
REFERENCE   9  (residues 1 to 579)
  AUTHORS   Izaki T, Kamakura S, Kohjima M and Sumimoto H.
  TITLE     Two forms of human Inscuteable-related protein that links Par3 to
            the Pins homologues LGN and AGS3
  JOURNAL   Biochem Biophys Res Commun 341 (4), 1001-1006 (2006)
   PUBMED   16458856
  REMARK    GeneRIF: cloning of two distinct cDNAs from Insc gene, which is
            differentially expressed from alternative first exons;Insc proteins
            bind to the Pins homologues LGN and AGS3, and also to Par3 and
            Par3beta
REFERENCE   10 (residues 1 to 579)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of human Inscuteable gene in
            silico
  JOURNAL   Int J Mol Med 11 (1), 111-116 (2003)
   PUBMED   12469229
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB236159.1 and DY654442.1.
            On May 21, 2006 this sequence version replaced NP_001027024.2.
            
            Summary: In Drosophila, neuroblasts divide asymmetrically into
            another neuroblast at the apical side and a smaller ganglion mother
            cell on the basal side. Cell polarization is precisely regulated by
            2 apically localized multiprotein signaling complexes that are
            tethered by Inscuteable, which regulates their apical localization
            (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM, Mar
            2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB236159.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..579
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.2"
     Protein         1..579
                     /product="protein inscuteable homolog isoform a"
                     /note="protein inscuteable homolog; inscuteable spindle
                     orientation adaptor protein"
                     /calculated_mol_wt=63339
     Region          70..116
                     /region_name="INSC_LBD"
                     /note="Inscuteable LGN-binding domain; pfam16748"
                     /db_xref="CDD:435557"
     Site            order(71..75,77..79,81..100,102..106,112,119,122..123,
                     126..127,129..130,171,237,253..254,257)
                     /site_type="other"
                     /note="LGN binding site [polypeptide binding]"
                     /db_xref="CDD:439320"
     Region          74..89
                     /region_name="Important for interaction with GPSM2.
                     /evidence=ECO:0000269|PubMed:22074847"
                     /note="propagated from UniProtKB/Swiss-Prot (Q1MX18.1)"
     Region          127..579
                     /region_name="Insc_C"
                     /note="Protein inscuteable C-terminal; pfam19427"
                     /db_xref="CDD:437259"
     Region          576..579
                     /region_name="PDZ-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (Q1MX18.1)"
     CDS             1..579
                     /gene="INSC"
                     /coded_by="NM_001031853.5:47..1786"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS41621.1"
                     /db_xref="GeneID:387755"
                     /db_xref="HGNC:HGNC:33116"
                     /db_xref="MIM:610668"
ORIGIN      
        1 mrrppgngea asegpggwgl wgvqesrrlc caghdrckqa llqiginmma lpggrhldsv
       61 tlpgqrlhlm qvdsvqrwme dlklmtecec mcvlqakpis leedaqgdli laggpgpgdp
      121 lqlllkrgwv istelrrigq klaqdrwarv hsmsvrltch arsmvseysa vsrnslkemg
      181 eiekllmekc selsavterc lqvenehvlk smkacvsetl smlgqhfgql lelaltrevq
      241 alvrkidasd niyttesttg nlfsltqega plcriiakeg gvvalfkvcr qdsfrclypq
      301 alrtlasicc veegvhqlek vdgvlcladi ltdnshseat raeaaavvaq vtsphlpvtq
      361 hlssflesme eivtalvklc qeassgevfl lasaalanit ffdtmaceml lqlnairvll
      421 eacsdkqrvd tpytrdqivt ilanmsvleq casdiiqeng vqlimgmlse kprsgtpaev
      481 aacervqqka avtlarlsrd pdvareavrl scmsrlielc rspsernssd avlvaclaal
      541 rrlagvcpeg lqdsdfqqlv qprlvdsfll csnmeesfv
//
LOCUS       NP_542787                285 aa            linear   PRI 29-DEC-2022
DEFINITION  neuralized-like protein 2 isoform 1 [Homo sapiens].
ACCESSION   NP_542787
VERSION     NP_542787.1
DBSOURCE    REFSEQ: accession NM_080749.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 285)
  AUTHORS   Rullinkov G, Tamme R, Sarapuu A, Lauren J, Sepp M, Palm K and
            Timmusk T.
  TITLE     Neuralized-2: expression in human and rodents and interaction with
            Delta-like ligands
  JOURNAL   Biochem Biophys Res Commun 389 (3), 420-425 (2009)
   PUBMED   19723503
REFERENCE   2  (residues 1 to 285)
  AUTHORS   Aurino S, Piluso G, Saccone V, Cacciottolo M, D'Amico F, Dionisi M,
            Totaro A, Belsito A, Di Vicino U and Nigro V.
  TITLE     Candidate-gene testing for orphan limb-girdle muscular dystrophies
  JOURNAL   Acta Myol 27 (3), 90-97 (2008)
   PUBMED   19472918
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 285)
  AUTHORS   Wu G, Liu C and He X.
  TITLE     Ozz; a new name on the long list of beta-catenin's nemeses
  JOURNAL   Mol Cell 13 (4), 451-453 (2004)
   PUBMED   14992713
  REMARK    Review article
REFERENCE   4  (residues 1 to 285)
  AUTHORS   Nastasi T, Bongiovanni A, Campos Y, Mann L, Toy JN, Bostrom J,
            Rottier R, Hahn C, Conaway JW, Harris AJ and D'Azzo A.
  TITLE     Ozz-E3, a muscle-specific ubiquitin ligase, regulates beta-catenin
            degradation during myogenesis
  JOURNAL   Dev Cell 6 (2), 269-282 (2004)
   PUBMED   14960280
REFERENCE   5  (residues 1 to 285)
  AUTHORS   Kile BT, Schulman BA, Alexander WS, Nicola NA, Martin HM and Hilton
            DJ.
  TITLE     The SOCS box: a tale of destruction and degradation
  JOURNAL   Trends Biochem Sci 27 (5), 235-241 (2002)
   PUBMED   12076535
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK054821.1 and HY058356.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a protein that is involved in the
            regulation of myofibril organization. This protein is likely the
            adaptor component of the E3 ubiquitin ligase complex in striated
            muscle, and it regulates the ubiquitin-mediated degradation of
            beta-catenin during myogenesis. Alternative splicing of this gene
            results in multiple transcript variants. [provided by RefSeq, Jun
            2013].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK054821.1, BC105935.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372518.5/ ENSP00000361596.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..285
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     Protein         1..285
                     /product="neuralized-like protein 2 isoform 1"
                     /note="neuralized-like protein 2; neuralized homolog 2"
                     /calculated_mol_wt=31559
     Region          1..20
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BR09.1)"
     Region          25..242
                     /region_name="SPRY_NHR_like"
                     /note="SPRY domain in neuralized homology repeat; cd12887"
                     /db_xref="CDD:293945"
     Site            order(247..252,258,266,272)
                     /site_type="active"
                     /note="elongin B/C interaction [active]"
                     /db_xref="CDD:239641"
     Region          249..285
                     /region_name="SOCS_box"
                     /note="The SOCS box acts as a bridge between specific
                     substrate- binding domains and more generic proteins that
                     comprise a large family of E3 ubiquitin protein ligases;
                     smart00969"
                     /db_xref="CDD:198037"
     CDS             1..285
                     /gene="NEURL2"
                     /gene_synonym="C20orf163; OZZ; OZZ-E3"
                     /coded_by="NM_080749.4:218..1075"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13384.1"
                     /db_xref="GeneID:140825"
                     /db_xref="HGNC:HGNC:16156"
                     /db_xref="MIM:608597"
ORIGIN      
        1 maaasepvds galwglerpe ppptrfhrvh ganirvdpsg tratrvesfa hgvcfsrepl
       61 apgqvflvei eekelgwcgh lrlgltaldp aslapvpefs lpdlvnlght wvfaitrhhn
      121 rvpregrpea eaaapsrppt llvepylrie qfriprdrlv grsrpglysh lldqlyelnv
      181 lpptarrsrl gvlfcprpdg tadmhiiing edmgpsargl paaqplyavv dvfastksvr
      241 lvqleyglps lqtlcrlviq rsmvhrlaid glhlpkelkd fckye
//
LOCUS       NP_001136145             517 aa            linear   PRI 31-DEC-2022
DEFINITION  autophagy-related protein 13 isoform c [Homo sapiens].
ACCESSION   NP_001136145
VERSION     NP_001136145.1
DBSOURCE    REFSEQ: accession NM_001142673.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 517)
  AUTHORS   Karabi Z, Moradian F and Kheirabadi M.
  TITLE     The effect of lactoferrin on ULK1 and ATG13 genes expression in
            breast cancer cell line MCF7 and bioinformatics studies of protein
            interaction between lactoferrin and the autophagy initiation
            complex
  JOURNAL   Cell Biochem Biophys 80 (4), 795-806 (2022)
   PUBMED   36169801
  REMARK    GeneRIF: The effect of lactoferrin on ULK1 and ATG13 genes
            expression in breast cancer cell line MCF7 and bioinformatics
            studies of protein interaction between lactoferrin and the
            autophagy initiation complex.
REFERENCE   2  (residues 1 to 517)
  AUTHORS   Gottschalk G, Peterson D, Knox K, Maynard M, Whelan RJ and Roy A.
  TITLE     Elevated ATG13 in serum of patients with ME/CFS stimulates
            oxidative stress response in microglial cells via activation of
            receptor for advanced glycation end products (RAGE)
  JOURNAL   Mol Cell Neurosci 120, 103731 (2022)
   PUBMED   35487443
  REMARK    GeneRIF: Elevated ATG13 in serum of patients with ME/CFS stimulates
            oxidative stress response in microglial cells via activation of
            receptor for advanced glycation end products (RAGE).
REFERENCE   3  (residues 1 to 517)
  AUTHORS   Gao L, Zhang Q, Li S, Zheng J, Ren W and Zhi K.
  TITLE     Circ-PKD2 promotes Atg13-mediated autophagy by inhibiting miR-646
            to increase the sensitivity of cisplatin in oral squamous cell
            carcinomas
  JOURNAL   Cell Death Dis 13 (2), 192 (2022)
   PUBMED   35220397
  REMARK    GeneRIF: Circ-PKD2 promotes Atg13-mediated autophagy by inhibiting
            miR-646 to increase the sensitivity of cisplatin in oral squamous
            cell carcinomas.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 517)
  AUTHORS   Guo W, Wang Q, Pan S, Li J, Wang Y, Shu Y, Chen J, Wang Q, Zhang S,
            Zhang X and Yue J.
  TITLE     The ERK1/2-ATG13-FIP200 signaling cascade is required for autophagy
            induction to protect renal cells from hypoglycemia-induced cell
            death
  JOURNAL   J Cell Physiol 236 (10), 6932-6947 (2021)
   PUBMED   33682133
  REMARK    GeneRIF: The ERK1/2-ATG13-FIP200 signaling cascade is required for
            autophagy induction to protect renal cells from
            hypoglycemia-induced cell death.
REFERENCE   5  (residues 1 to 517)
  AUTHORS   Mohamud Y, Xue YC, Liu H, Ng CS, Bahreyni A, Jan E and Luo H.
  TITLE     The papain-like protease of coronaviruses cleaves ULK1 to disrupt
            host autophagy
  JOURNAL   Biochem Biophys Res Commun 540, 75-82 (2021)
   PUBMED   33450483
REFERENCE   6  (residues 1 to 517)
  AUTHORS   Jung CH, Jun CB, Ro SH, Kim YM, Otto NM, Cao J, Kundu M and Kim DH.
  TITLE     ULK-Atg13-FIP200 complexes mediate mTOR signaling to the autophagy
            machinery
  JOURNAL   Mol Biol Cell 20 (7), 1992-2003 (2009)
   PUBMED   19225151
  REMARK    GeneRIF: The ULK-Atg13-FIP200 complexes are direct targets of mTOR
            and important regulators of autophagy in response to mTOR
            signaling.
REFERENCE   7  (residues 1 to 517)
  AUTHORS   Hosokawa N, Hara T, Kaizuka T, Kishi C, Takamura A, Miura Y, Iemura
            S, Natsume T, Takehana K, Yamada N, Guan JL, Oshiro N and Mizushima
            N.
  TITLE     Nutrient-dependent mTORC1 association with the ULK1-Atg13-FIP200
            complex required for autophagy
  JOURNAL   Mol Biol Cell 20 (7), 1981-1991 (2009)
   PUBMED   19211835
  REMARK    GeneRIF: mTORC1 suppresses autophagy through direct regulation of
            the approximately 3-MDa ULK1-Atg13-FIP200 complex.
REFERENCE   8  (residues 1 to 517)
  AUTHORS   Chan EY, Longatti A, McKnight NC and Tooze SA.
  TITLE     Kinase-inactivated ULK proteins inhibit autophagy via their
            conserved C-terminal domains using an Atg13-independent mechanism
  JOURNAL   Mol Cell Biol 29 (1), 157-171 (2009)
   PUBMED   18936157
  REMARK    GeneRIF: The functions of ULK1 and ULK2 are controlled by
            autophosphorylation and conformational changes involving exposure
            of the C-terminal domain and interaction with the putative human
            homologue of Atg13.
            GeneRIF: The gene product is the functional homologue of yeast
            Atg13, and required for autophagy in mammalian cells.
REFERENCE   9  (residues 1 to 517)
  AUTHORS   Meijer WH, van der Klei IJ, Veenhuis M and Kiel JA.
  TITLE     ATG genes involved in non-selective autophagy are conserved from
            yeast to man, but the selective Cvt and pexophagy pathways also
            require organism-specific genes
  JOURNAL   Autophagy 3 (2), 106-116 (2007)
   PUBMED   17204848
REFERENCE   10 (residues 1 to 517)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Behal A, Touchman JW, Bouffard G,
            Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and
            splice variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA195671.1, AK289641.1,
            CD675643.1 and BC002378.2.
            
            Summary: The protein encoded by this gene is an autophagy factor
            and a target of the TOR kinase signaling pathway. The encoded
            protein is essential for autophagosome formation and mitophagy.
            [provided by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (1) includes an alternate exon in
            the 5' UTR and lacks an exon in the coding region compared to
            variant 3. The resulting isoform (c, also known as isoform 1) is
            shorter but has the same N- and C- termini compared to isoform a.
            Variants 1, 4 and 15-28 all encode the same isoform (c).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.82170.1,
                                           SRR1803612.23945.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..517
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..517
                     /product="autophagy-related protein 13 isoform c"
                     /note="autophagy-related protein 13; ATG13 autophagy
                     related 13 homolog"
                     /calculated_mol_wt=56441
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O75143.1)"
     Region          19..192
                     /region_name="ATG13"
                     /note="Autophagy-related protein 13; pfam10033"
                     /db_xref="CDD:431003"
     Region          127..134
                     /region_name="Important for interaction with ATG101.
                     /evidence=ECO:0000269|PubMed:26299944"
                     /note="propagated from UniProtKB/Swiss-Prot (O75143.1)"
     Region          305..324
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75143.1)"
     Region          332..361
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75143.1)"
     Site            355
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ULK1.
                     /evidence=ECO:0000269|PubMed:21855797,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O75143.1)"
     Site            356
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75143.1)"
     Site            361
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75143.1)"
     Region          405..439
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75143.1)"
     Region          444..447
                     /region_name="LIR. /evidence=ECO:0000305|PubMed:24290141"
                     /note="propagated from UniProtKB/Swiss-Prot (O75143.1)"
     CDS             1..517
                     /gene="ATG13"
                     /gene_synonym="KIAA0652; PARATARG8"
                     /coded_by="NM_001142673.3:408..1961"
                     /note="isoform c is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS44582.1"
                     /db_xref="GeneID:9776"
                     /db_xref="HGNC:HGNC:29091"
                     /db_xref="MIM:615088"
ORIGIN      
        1 metdlnsqdr kdldkfikff alktvqvivq arlgekictr ssssptgsdw fnlaikdipe
       61 vtheakkala gqlpavgrsm cveislktse gdsmeleiwc lemnekcdke ikvsytvynr
      121 lslllkslla itrvtpayrl srkqgheyvi lyriyfgevq lsglgegfqt vrvgtvgtpv
      181 gtitlscayr inlafmstrq fertppimgi iidhfvdrpy pssspmhpcn yrtagedtgv
      241 iypsvedsqe vcttsfstsp psqlsssrls yqpaalgvgs adlaypvvfa aglnathphq
      301 lmvpgkeggv plapnqpvhg tqadqerlat ctpsdrthca atpsssedte tvsnssegra
      361 sphdvletif vrkvgafvnk pinqvtltsl dipfamfapk nleledtdpm vnppdspete
      421 splqgslhsd gssggssgnt hddfvmidfk pafskddilp mdlgtfyref qnppqlssls
      481 idigaqsmae dldslpekla vheknvrefd afvetlq
//
LOCUS       NP_001378920              71 aa            linear   PRI 31-DEC-2022
DEFINITION  oncomodulin-1 isoform b [Homo sapiens].
ACCESSION   NP_001378920
VERSION     NP_001378920.1
DBSOURCE    REFSEQ: accession NM_001391991.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 71)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 71)
  AUTHORS   Tong B, Hornak AJ, Maison SF, Ohlemiller KK, Liberman MC and
            Simmons DD.
  TITLE     Oncomodulin, an EF-Hand Ca2+ Buffer, Is Critical for Maintaining
            Cochlear Function in Mice
  JOURNAL   J Neurosci 36 (5), 1631-1635 (2016)
   PUBMED   26843644
  REMARK    GeneRIF: Deletion of oncomodulin in outer hair cells, leads to a
            progressive hearing loss in transgenic mice.
REFERENCE   3  (residues 1 to 71)
  AUTHORS   Ali G, Lee K, Andrade PB, Basit S, Santos-Cortez RL, Chen L, Jelani
            M, Ansar M, Ahmad W and Leal SM.
  TITLE     Novel autosomal recessive nonsyndromic hearing impairment locus
            DFNB90 maps to 7p22.1-p15.3
  JOURNAL   Hum Hered 71 (2), 106-112 (2011)
   PUBMED   21734401
  REMARK    GeneRIF: Data indicate taht candidate genes ACTB, BZW, OCM, MACC1,
            NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region,
            were sequenced and no potentially causal variants were identified.
REFERENCE   4  (residues 1 to 71)
  AUTHORS   Kurimoto T, Yin Y, Omura K, Gilbert HY, Kim D, Cen LP, Moko L,
            Kugler S and Benowitz LI.
  TITLE     Long-distance axon regeneration in the mature optic nerve:
            contributions of oncomodulin, cAMP, and pten gene deletion
  JOURNAL   J Neurosci 30 (46), 15654-15663 (2010)
   PUBMED   21084621
  REMARK    GeneRIF: Ocm plays a central role in inflammation-induced
            regeneration in the optic nerve.
REFERENCE   5  (residues 1 to 71)
  AUTHORS   Pauls TL, Cox JA and Berchtold MW.
  TITLE     The Ca2+(-)binding proteins parvalbumin and oncomodulin and their
            genes: new structural and functional findings
  JOURNAL   Biochim Biophys Acta 1306 (1), 39-54 (1996)
   PUBMED   8611623
  REMARK    Review article
REFERENCE   6  (residues 1 to 71)
  AUTHORS   Fohr UG, Weber BR, Muntener M, Staudenmann W, Hughes GJ, Frutiger
            S, Banville D, Schafer BW and Heizmann CW.
  TITLE     Human alpha and beta parvalbumins. Structure and tissue-specific
            expression
  JOURNAL   Eur J Biochem 215 (3), 719-727 (1993)
   PUBMED   8354278
REFERENCE   7  (residues 1 to 71)
  AUTHORS   Ritzler JM, Sawhney R, Geurts van Kessel AH, Grzeschik KH, Schinzel
            A and Berchtold MW.
  TITLE     The genes for the highly homologous Ca(2+)-binding proteins
            oncomodulin and parvalbumin are not linked in the human genome
  JOURNAL   Genomics 12 (3), 567-572 (1992)
   PUBMED   1559707
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004983.3.
            
            Summary: Oncomodulin is a high-affinity calcium ion-binding
            protein. It belongs to the superfamily of calmodulin proteins, also
            known as the EF-hand proteins. Oncomodulin is an oncodevelopmental
            protein found in early embryonic cells in the placenta and also in
            tumors. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            CDS exon combination :: CB045979.1, DB339645.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2144335, SAMEA2155371 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..71
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.1"
     Protein         1..71
                     /product="oncomodulin-1 isoform b"
                     /note="oncomodulin-1; hCG18255; parvalbumin beta; beta
                     parvalbumin"
                     /calculated_mol_wt=7895
     Region          <1..71
                     /region_name="EFh_parvalbumin_like"
                     /note="EF-hand, calcium binding motif, found in
                     parvalbumin-like EF-hand family; cl25356"
                     /db_xref="CDD:330177"
     Region          5..34
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:319994"
     Site            order(14,16,18,22,25,53,55,57,64)
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:319994"
     Region          44..71
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:319994"
     CDS             1..71
                     /gene="OCM"
                     /gene_synonym="OCM1; OM; ONCM"
                     /coded_by="NM_001391991.1:157..372"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="GeneID:654231"
                     /db_xref="HGNC:HGNC:8105"
                     /db_xref="MIM:164795"
ORIGIN      
        1 msanqvkdvf rfidndqsgy ldeeelkffl qkfesgarel tesetkslma aadndgdgki
       61 gaeefqemvh s
//
LOCUS       NP_001071092             533 aa            linear   PRI 31-DEC-2022
DEFINITION  zinc finger protein 846 isoform 1 [Homo sapiens].
ACCESSION   NP_001071092 XP_001130932 XP_091914
VERSION     NP_001071092.1
DBSOURCE    REFSEQ: accession NM_001077624.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 533)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008752.6.
            On or before Nov 14, 2006 this sequence version replaced
            XP_001130932.1, XP_091914.5.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC118576.1, SRR18074967.3141212.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397902.7/ ENSP00000380999.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..533
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     Protein         1..533
                     /product="zinc finger protein 846 isoform 1"
                     /note="zinc finger protein 420 pseudogene"
                     /calculated_mol_wt=60421
     Region          8..67
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          106..496
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          120..136
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          200..220
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          228..248
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          256..276
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          284..304
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(289,291,293,295..296,299..300,303,317,319,323..324,
                     327..328,331,345,347,349,351..352,355..356,359)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          312..332
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          340..360
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          368..388
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(373,375,377,379..380,383..384,387,401,403,407..408,
                     411..412,415,429,431,433,435..436,439..440,443)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          396..416
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          424..444
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          452..472
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          480..500
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          508..527
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..533
                     /gene="ZNF846"
                     /coded_by="NM_001077624.3:536..2137"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS42496.1"
                     /db_xref="GeneID:162993"
                     /db_xref="HGNC:HGNC:27260"
ORIGIN      
        1 mdssqhlvtf edvavdftqe ewtlldqaqr dlyrdvmlen yknliilags elfkrslmsg
       61 leqmeelrtg vtgvlqeldl qlktkgspll qdisaerspn gvqlersnta eklydsnhsg
      121 kvfnehpflm thmithigek tsednqsgka lrknfphsfy kkshaegkmp kcvkhekafn
      181 qfpnltrqnk thtqeklcec kdcwrtflnq sslklhirsh ngdkhyvcke cgkafsnssh
      241 lighgrihsg ekpyvckecg kaftqstglk lhirthsgek pykckecgka fthssyltdh
      301 trihsgkkpy vcmecgkaft rstglilhmr ihtgekpyec kecgkafihs syltkhvrih
      361 sgeklylcka cgkaftrssg lvlhmrthtg ekpyeckecg kafnnssmls qhvrihtgek
      421 pyeckecgka ftqssglsth lrthtgekac eckecgkafa rstnlnmhmr thtgekpyac
      481 kecgkafrys tylnvhtrth tgakpyeckk cgknftqssa lakhlrtkac ekt
//
LOCUS       NP_001387275             332 aa            linear   PRI 01-JAN-2023
DEFINITION  single-stranded DNA-binding protein 2 isoform 15 [Homo sapiens].
ACCESSION   NP_001387275
VERSION     NP_001387275.1
DBSOURCE    REFSEQ: accession NM_001400346.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 332)
  AUTHORS   Schwab C, Roberts K, Boer JM, Gohring G, Steinemann D, Vora A,
            Macartney C, Hough R, Thorn Z, Dillon R, Escherich G, Cazzaniga G,
            Schlegelberger B, Loh M, den Boer ML, Moorman AV and Harrison CJ.
  TITLE     SSBP2-CSF1R is a recurrent fusion in B-lineage acute lymphoblastic
            leukemia with diverse genetic presentation and variable outcome
  JOURNAL   Blood 137 (13), 1835-1838 (2021)
   PUBMED   33197935
  REMARK    GeneRIF: SSBP2-CSF1R is a recurrent fusion in B-lineage acute
            lymphoblastic leukemia with diverse genetic presentation and
            variable outcome.
REFERENCE   2  (residues 1 to 332)
  AUTHORS   Lawson T, El-Kamand S, Boucher D, Duong DC, Kariawasam R, Bonvin
            AMJJ, Richard DJ, Gamsjaeger R and Cubeddu L.
  TITLE     The structural details of the interaction of single-stranded DNA
            binding protein hSSB2 (NABP1/OBFC2A) with UV-damaged DNA
  JOURNAL   Proteins 88 (2), 319-326 (2020)
   PUBMED   31443132
  REMARK    GeneRIF: The structural details of the interaction of
            single-stranded DNA binding protein hSSB2 (NABP1/OBFC2A) with
            UV-damaged DNA.
REFERENCE   3  (residues 1 to 332)
  AUTHORS   Wang H, Kim J, Wang Z, Yan XX, Dean A and Xu W.
  TITLE     Crystal structure of human LDB1 in complex with SSBP2
  JOURNAL   Proc Natl Acad Sci U S A 117 (2), 1042-1048 (2020)
   PUBMED   31892537
  REMARK    GeneRIF: Single-stranded DNA binding proteins (SSBPs) interact
            specifically with the LDB/Chip conserved domain (LCCD) of LDB
            proteins and stabilize LDBs by preventing their proteasomal
            degradation, thus promoting their functions in gene regulation.
REFERENCE   4  (residues 1 to 332)
  AUTHORS   Kim H, Kim Y, Bang S, Park S, Jee S, Sim J, Shin SJ, Paik SS and
            Jang K.
  TITLE     Low Expression of Single-stranded DNA Binding Protein 2 (SSBP2)
            Predicts Unfavourable Postoperative Outcomes in Patients With Clear
            Cell Renal Cell Carcinoma
  JOURNAL   In Vivo 34 (1), 101-107 (2020)
   PUBMED   31882468
  REMARK    GeneRIF: CcRCC with low SSBP2 expression was associated with
            adverse clinicopathological characteristics and poor patient
            outcomes.
REFERENCE   5  (residues 1 to 332)
  AUTHORS   Wang H, Wang Z, Tang Q, Yan XX and Xu W.
  TITLE     Crystal structure of the LUFS domain of human single-stranded DNA
            binding Protein 2 (SSBP2)
  JOURNAL   Protein Sci 28 (4), 788-793 (2019)
   PUBMED   30676665
  REMARK    GeneRIF: This study reports a crystal structure of the highly
            conserved N-terminal LUFS domain of human SSBP2 at 1.52 A
            resolution.
REFERENCE   6  (residues 1 to 332)
  AUTHORS   Fleisig HB, Orazio NI, Liang H, Tyler AF, Adams HP, Weitzman MD and
            Nagarajan L.
  TITLE     Adenoviral E1B55K oncoprotein sequesters candidate leukemia
            suppressor sequence-specific single-stranded DNA-binding protein 2
            into aggresomes
  JOURNAL   Oncogene 26 (33), 4797-4805 (2007)
   PUBMED   17311003
  REMARK    GeneRIF: Results suggest that subverting SSBP2 function by
            oncoprotein E1B55K may contribute to cell transformation by viral
            oncoproteins.
REFERENCE   7  (residues 1 to 332)
  AUTHORS   Liang H, Samanta S and Nagarajan L.
  TITLE     SSBP2, a candidate tumor suppressor gene, induces growth arrest and
            differentiation of myeloid leukemia cells
  JOURNAL   Oncogene 24 (16), 2625-2634 (2005)
   PUBMED   15782145
  REMARK    GeneRIF: Our findings are consistent with human SSBP2 being a novel
            regulator of hematopoietic growth and differentiation, whose loss
            confers a block in differentiation advantage to myeloid leukemic
            cells.
REFERENCE   8  (residues 1 to 332)
  AUTHORS   Castro P, Liang H, Liang JC and Nagarajan L.
  TITLE     A novel, evolutionarily conserved gene family with putative
            sequence-specific single-stranded DNA-binding activity
  JOURNAL   Genomics 80 (1), 78-85 (2002)
   PUBMED   12079286
  REMARK    GeneRIF: Member of a closely related, evolutionarily conserved, and
            ubiquitously expressed gene family, potential tumor suppressor
REFERENCE   9  (residues 1 to 332)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (residues 1 to 332)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016562.7, AC093250.3,
            AC026419.5 and AC010623.10.
            
            Summary: This gene encodes a subunit of a protein complex that
            interacts with single-stranded DNA and is involved in the DNA
            damage response and maintenance of genome stability. The encoded
            protein may also play a role in telomere repair. A variant of this
            gene may be associated with survival in human glioblastoma
            patients. [provided by RefSeq, Sep 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.81867.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..332
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     Protein         1..332
                     /product="single-stranded DNA-binding protein 2 isoform
                     15"
                     /note="sequence-specific single-stranded-DNA-binding
                     protein 2"
                     /calculated_mol_wt=34670
     Region          19..45
                     /region_name="LisH"
                     /note="Lissencephaly type-1-like homology motif;
                     smart00667"
                     /db_xref="CDD:128913"
     Region          83..309
                     /region_name="SSDP"
                     /note="Single-stranded DNA binding protein, SSDP;
                     pfam04503"
                     /db_xref="CDD:427984"
     CDS             1..332
                     /gene="SSBP2"
                     /gene_synonym="HSPC116; SOSS-B2"
                     /coded_by="NM_001400346.1:56..1054"
                     /note="isoform 15 is encoded by transcript variant 17"
                     /db_xref="GeneID:23635"
                     /db_xref="HGNC:HGNC:15831"
                     /db_xref="MIM:607389"
ORIGIN      
        1 mygkgksnss avpsdsqare klalyvyeyl lhvgaqksaq tflseirwek nitlgeppgf
       61 lhswwcvfwd lycaaperre tcehsseaka fhdysaaaap spvlgnippg dgmpvgpvpp
      121 gffqpllpsg mdptrqqghp nmggpmqrmt pprgmvplgp qnyggamrpp lnalggpgmp
      181 gmnmgpgggr pwpnptnans ipyssaspgn yvgppggggp pgtpimpspa dstnsgdnmy
      241 tlmnavppgp nrpnfpmgpg sdgpmgglgg meshhmngsl gsgdmdsisk nspnnmslsn
      301 qpgtprddge mggnflnpfq sesyspsmtm sv
//
LOCUS       NP_001375271             720 aa            linear   PRI 22-JAN-2023
DEFINITION  ensconsin isoform 14 [Homo sapiens].
ACCESSION   NP_001375271 XP_011534547
VERSION     NP_001375271.1
DBSOURCE    REFSEQ: accession NM_001388342.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 720)
  AUTHORS   Wang R, Xie S, He Y, Zheng R, Zhang M, Jin J and Wang M.
  TITLE     MAP7 Promotes Breast Cancer Cell Migration and Invasion by
            Regulating the NF-B Pathway
  JOURNAL   Ann Clin Lab Sci 52 (5), 721-730 (2022)
   PUBMED   36261182
  REMARK    GeneRIF: MAP7 Promotes Breast Cancer Cell Migration and Invasion by
            Regulating the NF-B Pathway.
REFERENCE   2  (residues 1 to 720)
  AUTHORS   Nabawy SM, Refaat LA, Naser-Aldin HM and Rashed RA.
  TITLE     Clinical Significance of MAP-7 and FOXC1 in Egyptian Acute Myeloid
            Leukemia Patients
  JOURNAL   Asian Pac J Cancer Prev 23 (5), 1619-1626 (2022)
   PUBMED   35633546
  REMARK    GeneRIF: Clinical Significance of MAP-7 and FOXC1 in Egyptian Acute
            Myeloid Leukemia Patients.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 720)
  AUTHORS   Ferro LS, Fang Q, Eshun-Wilson L, Fernandes J, Jack A, Farrell DP,
            Golcuk M, Huijben T, Costa K, Gur M, DiMaio F, Nogales E and Yildiz
            A.
  TITLE     Structural and functional insight into regulation of kinesin-1 by
            microtubule-associated protein MAP7
  JOURNAL   Science 375 (6578), 326-331 (2022)
   PUBMED   35050657
  REMARK    GeneRIF: Structural and functional insight into regulation of
            kinesin-1 by microtubule-associated protein MAP7.
REFERENCE   4  (residues 1 to 720)
  AUTHORS   Yu L, Xie J, Liu X, Yu Y and Wang S.
  TITLE     Plasma Exosomal CircNEK9 Accelerates the Progression of Gastric
            Cancer via miR-409-3p/MAP7 Axis
  JOURNAL   Dig Dis Sci 66 (12), 4274-4289 (2021)
   PUBMED   33449227
  REMARK    GeneRIF: Plasma Exosomal CircNEK9 Accelerates the Progression of
            Gastric Cancer via miR-409-3p/MAP7 Axis.
REFERENCE   5  (residues 1 to 720)
  AUTHORS   Zhang R, Li L, Chen L, Suo Y, Fan J, Zhang S, Wang Y, Gao S and
            Wang Y.
  TITLE     MAP7 interacts with RC3H1 and cooperatively regulate cell-cycle
            progression of cervical cancer cells via activating the NF-kappaB
            signaling
  JOURNAL   Biochem Biophys Res Commun 527 (1), 56-63 (2020)
   PUBMED   32446391
  REMARK    GeneRIF: MAP7 interacts with RC3H1 and cooperatively regulate
            cell-cycle progression of cervical cancer cells via activating the
            NF-kappaB signaling.
REFERENCE   6  (residues 1 to 720)
  AUTHORS   Penttila TL, Parvinen M and Paranko J.
  TITLE     Microtubule-associated epithelial protein E-MAP-115 is localized in
            the spermatid manchette
  JOURNAL   Int J Androl 26 (3), 166-174 (2003)
   PUBMED   12755995
REFERENCE   7  (residues 1 to 720)
  AUTHORS   Bulinski JC, Odde DJ, Howell BJ, Salmon TD and Waterman-Storer CM.
  TITLE     Rapid dynamics of the microtubule binding of ensconsin in vivo
  JOURNAL   J Cell Sci 114 (Pt 21), 3885-3897 (2001)
   PUBMED   11719555
REFERENCE   8  (residues 1 to 720)
  AUTHORS   Fabre-Jonca N, Viard I, French LE and Masson D.
  TITLE     Upregulation and redistribution of E-MAP-115 (epithelial
            microtubule-associated protein of 115 kDa) in terminally
            differentiating keratinocytes is coincident with the formation of
            intercellular contacts
  JOURNAL   J Invest Dermatol 112 (2), 216-225 (1999)
   PUBMED   9989799
REFERENCE   9  (residues 1 to 720)
  AUTHORS   Masson D and Kreis TE.
  TITLE     Binding of E-MAP-115 to microtubules is regulated by cell
            cycle-dependent phosphorylation
  JOURNAL   J Cell Biol 131 (4), 1015-1024 (1995)
   PUBMED   7490279
REFERENCE   10 (residues 1 to 720)
  AUTHORS   Masson D and Kreis TE.
  TITLE     Identification and molecular characterization of E-MAP-115, a novel
            microtubule-associated protein predominantly expressed in
            epithelial cells
  JOURNAL   J Cell Biol 123 (2), 357-371 (1993)
   PUBMED   8408219
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL024508.1 and AL023284.1.
            On Oct 26, 2020 this sequence version replaced XP_011534547.1.
            
            Summary: The product of this gene is a microtubule-associated
            protein that is predominantly expressed in cells of epithelial
            origin. Microtubule-associated proteins are thought to be involved
            in microtubule dynamics, which is essential for cell polarization
            and differentiation. This protein has been shown to be able to
            stabilize microtubules, and may serve to modulate microtubule
            functions. Studies of the related mouse protein also suggested an
            essential role in microtubule function required for
            spermatogenesis. Multiple alternatively spliced transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.151735.1,
                                           SRR18074969.861747.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..720
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.3"
     Protein         1..720
                     /product="ensconsin isoform 14"
                     /note="ensconsin; dJ325F22.2 (microtubule-associated
                     protein 7 (EMAP115, E-MAP-115)); epithelial
                     microtubule-associated protein of 115 kDa"
                     /calculated_mol_wt=80711
     Region          84..>159
                     /region_name="MAP7"
                     /note="MAP7 (E-MAP-115) family; pfam05672"
                     /db_xref="CDD:428577"
     Region          <105..392
                     /region_name="PTZ00108"
                     /note="DNA topoisomerase 2-like protein; Provisional"
                     /db_xref="CDD:240271"
     Region          439..588
                     /region_name="MAP7"
                     /note="MAP7 (E-MAP-115) family; pfam05672"
                     /db_xref="CDD:428577"
     CDS             1..720
                     /gene="MAP7"
                     /gene_synonym="E-MAP-115; EMAP115"
                     /coded_by="NM_001388342.1:15..2177"
                     /note="isoform 14 is encoded by transcript variant 25"
                     /db_xref="GeneID:9053"
                     /db_xref="HGNC:HGNC:6869"
                     /db_xref="MIM:604108"
ORIGIN      
        1 maelgaggdg hrggdgavrs etapdsykvq dkknassrpa saisgqnnnh sgnkpdpppv
       61 lrvddrqrla rerreerekq laareivwle reerarqhye khleerkkrl eeqrqkeerr
      121 raaveekrrq rleedkerhe avvrrtmers qkpkqkhnrw swggslhgsp sihsaarrlq
      181 lspwessvvn rlltpthsfl arskstaals geavipicpr sascspiimp ykaahsrnsm
      241 drpklfvtpp egssrrriih gtasykkere renvlfltsg trravspsnp karqparsrl
      301 wlpskslphl pgtprptssl ppgsvkaapa qvrppspgni rpvkrevkve pekkdpekep
      361 qkvanepslk graplvkvee atveertpae pevgpaapam apapasapap asapapapvp
      421 tpamvsapss tvnasasvkt sagttdpeea trllaekrrl areqrekeer erreqeeler
      481 qkreelaqrv aeerttrree esrrleaeqa rekeeqlqrq aeeralrere eaeraqrqke
      541 eearvreeae rvrqerekhf qreeqerler kkrleeimkr trrteatdkk tsdqrngdia
      601 kgaltggtev salpcttnap gngkpvgsph vvtshqskvt vestpdlekq pnengvsvqn
      661 enfeeiinlp igskpsrldv tnsespeipl npilafddeg tlgplpqvdg vqtqqtaevi
//
LOCUS       NP_001387253             444 aa            linear   PRI 11-MAR-2023
DEFINITION  spermatogenesis-defective protein 39 homolog isoform 2 [Homo
            sapiens].
ACCESSION   NP_001387253
VERSION     NP_001387253.1
DBSOURCE    REFSEQ: accession NM_001400324.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 444)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 444)
  AUTHORS   Solinger JA, Rashid HO, Prescianotto-Baschong C and Spang A.
  TITLE     FERARI is required for Rab11-dependent endocytic recycling
  JOURNAL   Nat Cell Biol 22 (2), 213-224 (2020)
   PUBMED   31988382
  REMARK    GeneRIF: The Rab-binding module of FERARI (factors for endosome
            recycling and Rab interactions) consists of Rab11FIP5 and
            rabenosyn-5, while the SNARE-interacting module comprises VPS45 and
            VIPAS39.
REFERENCE   3  (residues 1 to 444)
  AUTHORS   Ambrosio AL and Di Pietro SM.
  TITLE     Mechanism of platelet alpha-granule biogenesis: study of cargo
            transport and the VPS33B-VPS16B complex in a model system
  JOURNAL   Blood Adv 3 (17), 2617-2626 (2019)
   PUBMED   31501156
  REMARK    GeneRIF: Mechanism of platelet alpha-granule biogenesis: study of
            cargo transport and the VPS33B-VPS16B complex in a model system.
REFERENCE   4  (residues 1 to 444)
  AUTHORS   Hunter MR, Hesketh GG, Benedyk TH, Gingras AC and Graham SC.
  TITLE     Proteomic and Biochemical Comparison of the Cellular Interaction
            Partners of Human VPS33A and VPS33B
  JOURNAL   J Mol Biol 430 (14), 2153-2163 (2018)
   PUBMED   29778605
REFERENCE   5  (residues 1 to 444)
  AUTHORS   Shagrani M, Burkholder J, Broering D, Abouelhoda M, Faquih T,
            El-Kalioby M, Subhani SN, Goljan E, Albar R, Monies D, Mazhar N,
            AlAbdulaziz BS, Abdelrahman KA, Altassan N and Alkuraya FS.
  TITLE     Genetic profiling of children with advanced cholestatic liver
            disease
  JOURNAL   Clin Genet 92 (1), 52-61 (2017)
   PUBMED   28039895
  REMARK    GeneRIF: A likely causal mutation was identified in the majority
            (61%), spanning many genes including ones that have only rarely
            been reported to cause cholestatic liver disease, e.g. TJP2 and
            VIPAS39
REFERENCE   6  (residues 1 to 444)
  AUTHORS   Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y,
            Bruce CK, Luo G, Rahman F, Gurakan F, Utine E, Ozkan TB, Denecke J,
            Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG,
            Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Muller F,
            Maher ER and Gissen P.
  TITLE     Mutations in VIPAR cause an arthrogryposis, renal dysfunction and
            cholestasis syndrome phenotype with defects in epithelial
            polarization
  JOURNAL   Nat Genet 42 (4), 303-312 (2010)
   PUBMED   20190753
  REMARK    Erratum:[Nat Genet. 2011 Mar;43(3):277]
REFERENCE   7  (residues 1 to 444)
  AUTHORS   Zhu GD, Salazar G, Zlatic SA, Fiza B, Doucette MM, Heilman CJ,
            Levey AI, Faundez V and L'hernault SW.
  TITLE     SPE-39 family proteins interact with the HOPS complex and function
            in lysosomal delivery
  JOURNAL   Mol Biol Cell 20 (4), 1223-1240 (2009)
   PUBMED   19109425
  REMARK    GeneRIF: SPE-39 homologues are present in RAB5-, RAB7-, and
            RAB11-positive endosomes where they play a conserved role in
            lysosomal delivery and probably function via their interaction with
            the core HOPS complex.
REFERENCE   8  (residues 1 to 444)
  AUTHORS   Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM,
            Polakiewicz RD and Comb MJ.
  TITLE     Immunoaffinity profiling of tyrosine phosphorylation in cancer
            cells
  JOURNAL   Nat Biotechnol 23 (1), 94-101 (2005)
   PUBMED   15592455
REFERENCE   9  (residues 1 to 444)
  AUTHORS   Ballif BA, Villen J, Beausoleil SA, Schwartz D and Gygi SP.
  TITLE     Phosphoproteomic analysis of the developing mouse brain
  JOURNAL   Mol Cell Proteomics 3 (11), 1093-1101 (2004)
   PUBMED   15345747
REFERENCE   10 (residues 1 to 444)
  AUTHORS   Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C,
            Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A,
            Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H,
            Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon
            O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere
            F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R,
            Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A,
            Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S,
            Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C,
            Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S,
            Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C,
            Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P,
            Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois
            M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V,
            Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J,
            Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F,
            Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F,
            Waterston R, Hood L and Weissenbach J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF111168.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.211651.1,
                                           SRR14372080.164793.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..444
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     Protein         1..444
                     /product="spermatogenesis-defective protein 39 homolog
                     isoform 2"
                     /note="VPS33B-interacting protein involved in polarity and
                     apical protein restriction; spermatogenesis-defective
                     protein 39 homolog"
                     /calculated_mol_wt=51450
     CDS             1..444
                     /gene="VIPAS39"
                     /gene_synonym="C14orf133; hSPE-39; SPE-39; SPE39; VIPAR;
                     VPS16B"
                     /coded_by="NM_001400324.1:379..1713"
                     /note="isoform 2 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS53905.1"
                     /db_xref="GeneID:63894"
                     /db_xref="HGNC:HGNC:20347"
                     /db_xref="MIM:613401"
ORIGIN      
        1 mnrtkgdeee ywnsskfkaf tfddeddels qlkeskravn slrdfvdddd dddlervsws
       61 gepvgsrtrp gsfqslsdal sdtpaksyap elgrpkgeyr dysndwspsd tvrrlrkgkv
      121 cslerfrslq dklqlleeav smhdgnvita vliflkrtls keilfrelev rqvalrhlih
      181 flkeigdqkl lldlfrfldr teelalshyr ehlniqdpdk rkeflktcvg lpfsaedsah
      241 iqdhytller qiiieandrh lesagqteif rkhprkasil nmplvttlfy scfyhyteae
      301 gtfsspvnlk ktfkipdkqy vltalaarak lrawndvdal fttknwlgyt kkrapigfhr
      361 vveilhknna pvqilqeyvn lvedvdtkln latkfkchdv vidtyrdlkd rqqllayrsk
      421 vdkgsaeeek idallsssqi rwkn
//
LOCUS       NP_114440                537 aa            linear   PRI 15-MAR-2023
DEFINITION  POZ-, AT hook-, and zinc finger-containing protein 1 isoform short
            [Homo sapiens].
ACCESSION   NP_114440
VERSION     NP_114440.1
DBSOURCE    REFSEQ: accession NM_032051.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 537)
  AUTHORS   Alhalabi KT, Stichel D, Sievers P, Peterziel H, Sommerkamp AC,
            Sturm D, Wittmann A, Sill M, Jager N, Beck P, Pajtler KW, Snuderl
            M, Jour G, Delorenzo M, Martin AM, Levy A, Dalvi N, Hansford JR,
            Gottardo NG, Uro-Coste E, Maurage CA, Godfraind C, Vandenbos F,
            Pietsch T, Kramm C, Filippidou M, Kattamis A, Jones C, Ora I,
            Mikkelsen TS, Zapotocky M, Sumerauer D, Scheie D, McCabe M,
            Wesseling P, Tops BBJ, Kranendonk MEG, Karajannis MA, Bouvier N,
            Papaemmanuil E, Dohmen H, Acker T, von Hoff K, Schmid S, Miele E,
            Filipski K, Kitanovski L, Krskova L, Gojo J, Haberler C, Alvaro F,
            Ecker J, Selt F, Milde T, Witt O, Oehme I, Kool M, von Deimling A,
            Korshunov A, Pfister SM, Sahm F and Jones DTW.
  TITLE     PATZ1 fusions define a novel molecularly distinct neuroepithelial
            tumor entity with a broad histological spectrum
  JOURNAL   Acta Neuropathol 142 (5), 841-857 (2021)
   PUBMED   34417833
  REMARK    GeneRIF: PATZ1 fusions define a novel molecularly distinct
            neuroepithelial tumor entity with a broad histological spectrum.
REFERENCE   2  (residues 1 to 537)
  AUTHORS   Rossi S, Barresi S, Giovannoni I, Alesi V, Ciolfi A, Colafati GS,
            Diomedi-Camassei F, Miele E, Cacchione A, Quacquarini D, Carai A,
            Tartaglia M, Giannini C, Giangaspero F, Mastronuzzi A and Alaggio
            R.
  TITLE     Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An
            infantile case with leptomeningeal dissemination
  JOURNAL   Brain Pathol 31 (3), e12934 (2021)
   PUBMED   33378126
  REMARK    GeneRIF: Expanding the spectrum of EWSR1-PATZ1 rearranged CNS
            tumors: An infantile case with leptomeningeal dissemination.
REFERENCE   3  (residues 1 to 537)
  AUTHORS   Michal M, Rubin BP, Agaimy A, Kosemehmetoglu K, Rudzinski ER, Linos
            K, John I, Gatalica Z, Davis JL, Liu YJ, McKenney JK, Billings SD,
            Svajdler M, Koshyk O, Kinkor Z, Michalova K, Kalmykova AV, Yusifli
            Z, Ptakova N, Hajkova V, Grossman P, Steiner P and Michal M.
  TITLE     EWSR1-PATZ1-rearranged sarcoma: a report of nine cases of spindle
            and round cell neoplasms with predilection for thoracoabdominal
            soft tissues and frequent expression of neural and skeletal muscle
            markers
  JOURNAL   Mod Pathol 34 (4), 770-785 (2021)
   PUBMED   33012788
  REMARK    GeneRIF: EWSR1-PATZ1-rearranged sarcoma: a report of nine cases of
            spindle and round cell neoplasms with predilection for
            thoracoabdominal soft tissues and frequent expression of neural and
            skeletal muscle markers.
            Erratum:[Mod Pathol. 2021 Nov;34(11):2092. PMID: 34112958]
REFERENCE   4  (residues 1 to 537)
  AUTHORS   Andersen L, Gulich AF, Alteneder M, Preglej T, Orola MJ, Dhele N,
            Stolz V, Schebesta A, Hamminger P, Hladik A, Floess S, Krausgruber
            T, Faux T, Andrabi SBA, Huehn J, Knapp S, Sparwasser T, Bock C,
            Laiho A, Elo LL, Rasool O, Lahesmaa R, Sakaguchi S and Ellmeier W.
  TITLE     The Transcription Factor MAZR/PATZ1 Regulates the Development of
            FOXP3+ Regulatory T Cells
  JOURNAL   Cell Rep 29 (13), 4447-4459 (2019)
   PUBMED   31875552
  REMARK    GeneRIF: The Transcription Factor MAZR/PATZ1 Regulates the
            Development of FOXP3(+) Regulatory T Cells.
REFERENCE   5  (residues 1 to 537)
  AUTHORS   Aziati ID, Yoshida T, Hamano A, Maeda K, Takeuchi H and Yamaoka S.
  TITLE     PATZ1 is required for efficient HIV-1 infection
  JOURNAL   Biochem Biophys Res Commun 514 (2), 538-544 (2019)
   PUBMED   31060775
  REMARK    GeneRIF: It has been shown that PATZ1 is a novel regulator of HIV-1
            infection.
REFERENCE   6  (residues 1 to 537)
  AUTHORS   Mitchelmore C, Kjaerulff KM, Pedersen HC, Nielsen JV, Rasmussen TE,
            Fisker MF, Finsen B, Pedersen KM and Jensen NA.
  TITLE     Characterization of two novel nuclear BTB/POZ domain zinc finger
            isoforms. Association with differentiation of hippocampal neurons,
            cerebellar granule cells, and macroglia
  JOURNAL   J Biol Chem 277 (9), 7598-7609 (2002)
   PUBMED   11744704
  REMARK    GeneRIF: We report here the isolation and characterization of two
            novel nuclear BTB/POZ domain zinc finger isoformsthat are
            specifically expressed in early hippocampal neurons, cerebellar
            granule cells, and gliogenic progenitors as well as in
            differentiated glia
REFERENCE   7  (residues 1 to 537)
  AUTHORS   Pero R, Lembo F, Palmieri EA, Vitiello C, Fedele M, Fusco A, Bruni
            CB and Chiariotti L.
  TITLE     PATZ attenuates the RNF4-mediated enhancement of androgen
            receptor-dependent transcription
  JOURNAL   J Biol Chem 277 (5), 3280-3285 (2002)
   PUBMED   11719514
REFERENCE   8  (residues 1 to 537)
  AUTHORS   Mastrangelo T, Modena P, Tornielli S, Bullrich F, Testi MA,
            Mezzelani A, Radice P, Azzarelli A, Pilotti S, Croce CM, Pierotti
            MA and Sozzi G.
  TITLE     A novel zinc finger gene is fused to EWS in small round cell tumor
  JOURNAL   Oncogene 19 (33), 3799-3804 (2000)
   PUBMED   10949935
  REMARK    GeneRIF: The short isoform of the Zinc finger Sarcoma Gene (ZSG)
            was isolated as a RNF4 interacting protein.
REFERENCE   9  (residues 1 to 537)
  AUTHORS   Fedele M, Benvenuto G, Pero R, Majello B, Battista S, Lembo F,
            Vollono E, Day PM, Santoro M, Lania L, Bruni CB, Fusco A and
            Chiariotti L.
  TITLE     A novel member of the BTB/POZ family, PATZ, associates with the
            RNF4 RING finger protein and acts as a transcriptional repressor
  JOURNAL   J Biol Chem 275 (11), 7894-7901 (2000)
   PUBMED   10713105
REFERENCE   10 (residues 1 to 537)
  AUTHORS   Kobayashi A, Yamagiwa H, Hoshino H, Muto A, Sato K, Morita M,
            Hayashi N, Yamamoto M and Igarashi K.
  TITLE     A combinatorial code for gene expression generated by transcription
            factor Bach2 and MAZR (MAZ-related factor) through the BTB/POZ
            domain
  JOURNAL   Mol Cell Biol 20 (5), 1733-1746 (2000)
   PUBMED   10669750
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005003.2, AF119256.1 and
            AF254082.1.
            
            Summary: The protein encoded by this gene contains an A-T hook DNA
            binding motif which usually binds to other DNA binding structures
            to play an important role in chromatin modeling and transcription
            regulation. Its Poz domain is thought to function as a site for
            protein-protein interaction and is required for transcriptional
            repression, and the zinc-fingers comprise the DNA binding domain.
            Since the encoded protein has typical features of a transcription
            factor, it is postulated to be a repressor of gene expression. In
            small round cell sarcoma, this gene is fused to EWS by a small
            inversion of 22q, then the hybrid is thought to be translocated
            (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves
            intron 8 of EWS and exon 1 of this gene creating a chimeric
            sequence containing the transactivation domain of EWS fused to zinc
            finger domain of this protein. This is a distinct example of an
            intra-chromosomal rearrangement of chromosome 22. Four
            alternatively spliced transcript variants are described for this
            gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (4) differs in the 3' UTR and has
            multiple coding region differences (compared to variant 1), one of
            which results in a frameshift. This results in a shorter protein
            (short isoform) with a distinct C-terminus, compared to the long C
            isoform. This short isoform interacts with RING finger protein 4
            through its A-T hook DNA binding domain. It acts as a
            transcriptional repressor, whereas its partner RING finger protein
            4 behaves as a transcriptional activator. Thus the association of
            this isoform with RING finger protein 4 seems to switch activation
            to repression.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF254082.1, BC021091.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..537
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..537
                     /product="POZ-, AT hook-, and zinc finger-containing
                     protein 1 isoform short"
                     /note="zinc finger protein 278; POZ-AT hook-zinc finger
                     protein; MAZ-related factor; POZ-, AT hook-, and zinc
                     finger-containing protein 1; BTB-POZ domain zinc finger
                     transcription factor; zinc finger sarcoma gene protein;
                     zinc finger and BTB domain-containing protein 19; protein
                     kinase A RI subunit alpha-associated protein"
                     /calculated_mol_wt=57471
     Region          14..162
                     /region_name="BTB_POZ_ZBTB19_PATZ1"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in POZ-, AT hook-,
                     and zinc finger-containing protein 1 (PATZ1); cd18207"
                     /db_xref="CDD:349516"
     Region          264..272
                     /region_name="A-T hook domain"
     Site            282
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9HBE1.1)"
     Region          294..445
                     /region_name="Zn finger DNA binding domain"
     Region          294..314
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <329..406
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          357..377
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(362,364,366,368..369,372..373,376,390,392,396..397,
                     400..401,404,420,422,424,426..427,430..431,435)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          369..394
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          <379..436
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          385..405
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(385,388,401,405)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          415..436
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..537
                     /gene="PATZ1"
                     /gene_synonym="dJ400N23; MAZR; PATZ; RIAZ; ZBTB19; ZNF278;
                     ZSG"
                     /coded_by="NM_032051.2:745..2358"
                     /note="isoform short is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS13896.1"
                     /db_xref="GeneID:23598"
                     /db_xref="HGNC:HGNC:13071"
                     /db_xref="MIM:605165"
ORIGIN      
        1 mervndascg psgcytyqvs rhstemlhnl nqqrknggrf cdvllrvgde sfpahravla
       61 acseyfesvf saqlgdggaa dggpadvgga taapgggagg srelemhtis skvfgdildf
      121 aytsrivvrl esfpelmtaa kfllmrsvie icqevikqsn vqilvppara dimlfrppgt
      181 sdlgfpldmt ngaalaansn giagsmqpee eaaraagaai agqaslpvlp gvdrlpmvag
      241 plspqlltsp fpsvassapp ltgkrgrgrp rkanlldsmf gspgglreag ilpcglcgkv
      301 ftdanrlrqh eaqhgvtslq lgyidlpppr lgenglpise dpdgprkrsr trkqvaceic
      361 gkifrdvyhl nrhklshsge kpyscpvcgl rfkrkdrmsy hvrshdgsvg kpyicqscgk
      421 gfsrpdhlng hikqvhtser phkcqvwvgs ssglpplepl psdlpswdfa qpalwrsshs
      481 vpdtafslsl kksfpalenl gpahssntlf cpappgylrq gwttpegsra ftqwpvg
//
LOCUS       XP_016856246            1032 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family M member 2 isoform X1
            [Homo sapiens].
ACCESSION   XP_016856246
VERSION     XP_016856246.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017000757.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1032
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1032
                     /product="pleckstrin homology domain-containing family M
                     member 2 isoform X1"
                     /calculated_mol_wt=113877
     Region          34..166
                     /region_name="RUN_PLEKHM2"
                     /note="RUN domain found in pleckstrin homology
                     domain-containing family M member 2 (PLEKHM2) and similar
                     proteins; cd17680"
                     /db_xref="CDD:439042"
     Region          786..888
                     /region_name="PH_SKIP"
                     /note="SifA and kinesin-interacting protein Pleckstrin
                     homology (PH) domain; cd13309"
                     /db_xref="CDD:270119"
     Site            order(835,840..844,846..847,859,871,882,885)
                     /site_type="other"
                     /note="SifA binding site [polypeptide binding]"
                     /db_xref="CDD:270119"
     CDS             1..1032
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /coded_by="XM_017000757.1:96..3194"
                     /db_xref="GeneID:23207"
                     /db_xref="HGNC:HGNC:29131"
                     /db_xref="MIM:609613"
ORIGIN      
        1 mnqsciqqvg acmhpsqdgv grkcailtpq tpllqsyfaa cedeipairn hdkvlqrlce
       61 hldhallygl qdlssgywvl vvhftrreai kqievlqhva tnlgrsrawl ylalnensle
      121 sylrlfqenl gllhkyyvkn alvcshdhlt lfltlvsgle firfeldlda pyldlapymp
      181 dyykpqylld fedrlpssvh gsdslslnsf nsvtstnlew ddsaiapsse dydfgdvfpa
      241 vpsvpstdwe dgdltdtvsg prstasdlts skastrsptq rqnpfneepa etvsssdttp
      301 vhttsqekee aqaldppdac televirvtk kkkigkkkks rsdeeasplh pacsqkkcak
      361 qgdgdsrngs pslgrdspdt mlaspqeege gpssttesse rsepgllipe mkdtsmerlg
      421 qplskvidql ngqldpstwc sraeppdqsf rtgspgdape rpplcdfseg lsapmdfyrf
      481 tvespstvts ggghhdpagl gqplhvpssp eaagqeeegg ggegqtprpl edttreaqel
      541 eaqlslvreg pvsepepgtq evlcqlkrdq pspclssaed sgvdegqgsp semvhssefr
      601 vdnnhllllm ihvfreneeq lfkmirmstg hmegnlqlly vlltdcyvyl lrkgatekpy
      661 lveeavsyne ldyvsvgldq qtvklvctnr rkqflldtad valaefflas lksamikgcr
      721 eppypsiltd atmeklalak fvaqeskcea savtvrfygl vhwedptdes lgptpchcsp
      781 pegtitkegm lhykagtsyl gkehwktcfv vlsngilyqy pdrtdvipll svnmggeqcg
      841 gcrranttdr phafqvilsd rpclelsaes eaemaewmqh lcqavskgvi pqgvapspci
      901 pcclvltddr lftchedcqt sffrslgtak lgdisavste pgkeycvlef sqdsqqllpp
      961 wviylsctse ldrllsalns gwktiyqvdl phtaiqeasn kkkfedalsl ihsawqrsds
     1021 lcrgrasrdp wc
//
LOCUS       XP_047272516            1140 aa            linear   PRI 20-MAR-2023
DEFINITION  polyamine-transporting ATPase 13A2 isoform X27 [Homo sapiens].
ACCESSION   XP_047272516
VERSION     XP_047272516.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416560.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1140
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1140
                     /product="polyamine-transporting ATPase 13A2 isoform X27"
                     /calculated_mol_wt=124253
     Region          39..1077
                     /region_name="P-ATPase-V"
                     /note="P-type ATPase of unknown pump specificity (type V);
                     TIGR01657"
                     /db_xref="CDD:273738"
     CDS             1..1140
                     /gene="ATP13A2"
                     /gene_synonym="CLN12; HSA9947; KRPPD; PARK9; SPG78"
                     /coded_by="XM_047416560.1:191..3613"
                     /db_xref="GeneID:23400"
                     /db_xref="HGNC:HGNC:30213"
                     /db_xref="MIM:610513"
ORIGIN      
        1 msadssplvg stptgygtlt igtsidplss svssvrlsgy cgspwrvigy hvvvwmmagi
       61 plllfrwkpl wgvrlrlrpc nlahaetlvi eirdkedssw qlftvqvqte aigegsleps
      121 pqsqaedgrs qaavgavpeg awkdtaqlhk seeavsvgqr vlryylfqgq ryiwietqqa
      181 fyqvslldhg rscddvhrsr hglslqdqmv rkaiygpnvi sipvksypql lvdealnpyy
      241 gfqafsialw ladhyywyal ciflissisi clslyktrkq sqtlrdmvkl smrvcvcrpg
      301 geeewvdsse lvpgdclvlp qegglmpcda alvagecmvn essltgesip vlktalpegl
      361 gpycaethrr htlfcgtlil qarayvgphv lavvtrtgfc takgglvssi lhprpinfkf
      421 ykhsmkfvaa lsvlallgti ysifilyrnr vplneivira ldlvtvvvpp alpaamtvct
      481 lyaqsrlrrq gifcihplri nlggklqlvc fdktgtlted gldvmgvvpl kgqaflplvp
      541 eprrlpvgpl lralatchal srlqdtpvgd pmdlkmvest gwvleeepaa dsafgtqvla
      601 vmrpplwepq lqameeppvp vsvlhrfpfs salqrmsvvv awpgatqpea yvkgspelva
      661 glcnpetvpt dfaqmlqsyt aagyrvvala skplptvpsl eaaqqltrdt vegdlsllgl
      721 lvmrnllkpq ttpviqalrr triravmvtg dnlqtavtva rgcgmvapqe hliivhathp
      781 ergqpaslef lpmesptavn gvkvlvqgtv farmapeqkt elvcelqklq ycvgmcgdga
      841 ndcgalkaad vgislsqaea svvspftssm asiecvpmvi regrcsldts fsvfkymaly
      901 sltqfisvli lytintnlgd lqflaidlvi tttvavlmsr tgpalvlgrv rppgallsvp
      961 vlsslllqmv lvtgvqlggy fltlaqpwfv plnrtvaapd nlpnyentvv fslssfqyli
     1021 laaavskgap frrplytnvp flvalallss vlvglvlvpg llqgplalrn itdtgfklll
     1081 lglvtlnfvg afmlesvldq clpaclrrlr pkraskkrfk qlerelaeqp wpplpagplr
//
LOCUS       XP_047275793            1471 aa            linear   PRI 20-MAR-2023
DEFINITION  agrin isoform X4 [Homo sapiens].
ACCESSION   XP_047275793
VERSION     XP_047275793.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419837.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1471
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1471
                     /product="agrin isoform X4"
                     /calculated_mol_wt=153376
     Region          34..86
                     /region_name="KAZAL"
                     /note="Kazal type serine protease inhibitors; smart00280"
                     /db_xref="CDD:197624"
     Region          126..172
                     /region_name="KAZAL"
                     /note="Kazal type serine protease inhibitors; smart00280"
                     /db_xref="CDD:197624"
     Region          215..257
                     /region_name="Laminin_EGF"
                     /note="Laminin EGF domain; pfam00053"
                     /db_xref="CDD:395007"
     Site            order(215,217,227,234,236,245)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          269..>305
                     /region_name="Laminin_EGF"
                     /note="Laminin EGF domain; pfam00053"
                     /db_xref="CDD:395007"
     Site            order(269,271,281,288,290,299)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          344..391
                     /region_name="KAZAL"
                     /note="Kazal type serine protease inhibitors; smart00280"
                     /db_xref="CDD:197624"
     Region          552..676
                     /region_name="SEA"
                     /note="Domain found in sea urchin sperm protein,
                     enterokinase, agrin; smart00200"
                     /db_xref="CDD:214554"
     Region          755..785
                     /region_name="EGF"
                     /note="EGF-like domain; pfam00008"
                     /db_xref="CDD:394967"
     Region          822..953
                     /region_name="Laminin_G_1"
                     /note="Laminin G domain; pfam00054"
                     /db_xref="CDD:395008"
     Region          977..1007
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Region          1090..1225
                     /region_name="Laminin_G_1"
                     /note="Laminin G domain; pfam00054"
                     /db_xref="CDD:395008"
     Region          1247..1279
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Region          1324..1454
                     /region_name="Laminin_G_1"
                     /note="Laminin G domain; pfam00054"
                     /db_xref="CDD:395008"
     CDS             1..1471
                     /gene="AGRN"
                     /gene_synonym="AGRIN; CMS8; CMSPPD"
                     /coded_by="XM_047419837.1:923..5338"
                     /db_xref="GeneID:375790"
                     /db_xref="HGNC:HGNC:329"
                     /db_xref="MIM:103320"
ORIGIN      
        1 mlhvhacthq islhvasagp cetcgdavca fgavcsagqc vcprcehppp gpvcgsdgvt
       61 ygsacelrea aclqqtqiee aragpceqae cgsggsgsge dgdceqelcr qrggiwdeds
      121 edgpcvcdfs cqsvpgspvc gsdgvtyste celkkarces qrglyvaaqg acrgptfapl
      181 ppvaplhcaq tpygccqdni taargvglag cpsacqcnph gsyggtcdpa tgqcscrpgv
      241 gglrcdrcep gfwnfrgivt dgrsgctpcs cdpqgavrdd ceqmtglcsc kpgvagpkcg
      301 qcpdgralgp agceadasap atcaemrcef garcveesgs ahcvcpmltc peanatkvcg
      361 sdgvtygnec qlktiacrqg lqisiqslgp cqeavapsth ptsasvtvtt pglllsqalp
      421 appgalplap sstahsqttp ppssrprtta svprttvwpv ltvpptapsp apslvasafg
      481 esgstdgssd eelsgdqeas gggsgglepl egssvatpgp pverascyns algccsdgkt
      541 psldaegsnc patkvfqgvl elegvegqel fytpemadpk selfgetars iestlddlfr
      601 nsdvkkdfrs vrlrdlgpgk svraivdvhf dpttafrapd varallrqiq vsrrrslgvr
      661 rplqehvrfm dfdwfpafit gatsgaiaag atarattasr lpssavtpra phpshtsqpv
      721 akttaapttr rppttapsrv pgrrppapqq ppkpcdsqpc fhggtcqdwa lgggftcscp
      781 agrggavcek vlgapvpafe grsflafptl rayhtlrlal efralepqgl llyngnargk
      841 dflalalldg rvqlrfdtgs gpavltsavp vepgqwhrle lsrhwrrgtl svdgetpvlg
      901 espsgtdgln ldtdlfvggv pedqaavale rtfvgaglrg cirlldvnnq rlelgigpga
      961 atrgsgvgec gdhpclpnpc hggapcqnle agrfhcqcpp grvgptcade kspcqpnpch
     1021 gaapcrvlpe ggaqcecplg regtfcqtas gqdgsgpfla dfngfshlel rglhtfardl
     1081 gekmalevvf largpsglll yngqktdgkg dfvslalrdr rlefrydlgk gaavirsrep
     1141 vtlgawtrvs lerngrkgal rvgdgprvlg espksrkvph tvlnlkeply vggapdfskl
     1201 araaavssgf dgaiqlvslg grqlltpehv lrqvdvtsfa ghpctrasgh pclngascvp
     1261 reaayvclcp ggfsgphcek glveksagdv dtlafdgrtf veylnavtes ekalqsnhfe
     1321 lslrteatqg lvlwsgkate radyvalaiv dghlqlsynl gsqpvvlrst vpvntnrwlr
     1381 vvahreqreg slqvgneapv tgssplgatq ldtdgalwlg glpelpvgpa lpkaygtgfv
     1441 gclrdvvvgr hplhlledav tkpelrpcpt p
//
LOCUS       XP_016856961            1019 aa            linear   PRI 20-MAR-2023
DEFINITION  AT-rich interactive domain-containing protein 4B isoform X5 [Homo
            sapiens].
ACCESSION   XP_016856961
VERSION     XP_016856961.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001472.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1019
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1019
                     /product="AT-rich interactive domain-containing protein 4B
                     isoform X5"
                     /calculated_mol_wt=114746
     Region          15..106
                     /region_name="ARID_ARID4B"
                     /note="ARID/BRIGHT DNA binding domain of AT-rich
                     interactive domain-containing protein 4B (ARID4B) and
                     similar proteins; cd16883"
                     /db_xref="CDD:350647"
     Site            order(36..42,67,69..70,73,84,86..88,90)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:350647"
     Region          280..337
                     /region_name="CD_CSD"
                     /note="CHROMO (CHRromatin Organization Modifier) domains
                     and chromo shadow domains; cl28914"
                     /db_xref="CDD:452897"
     Region          290..>388
                     /region_name="SAS2"
                     /note="Histone acetyltransferase (MYST family) [Chromatin
                     structure and dynamics]; COG5027"
                     /db_xref="CDD:227360"
     Site            order(295..298,313,315..318,322,324..327,329..331,
                     334..335)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:350845"
     Site            order(295,315,318,322)
                     /site_type="other"
                     /note="putative methylated histone tail binding site
                     [chemical binding]"
                     /db_xref="CDD:350845"
     Site            order(312,314..319,321..325)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:350845"
     Site            order(312,315,319,321,325)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:350845"
     CDS             1..1019
                     /gene="ARID4B"
                     /gene_synonym="BCAA; BRCAA1; RBBP1L1; RBP1L1; SAP180"
                     /coded_by="XM_017001472.2:68..3127"
                     /db_xref="GeneID:51742"
                     /db_xref="HGNC:HGNC:15550"
                     /db_xref="MIM:609696"
ORIGIN      
        1 mkvieleeie pfpeerenfl qqlykfmedr gtpinkrpvl gyrnlnlfkl frlvhklggf
       61 dniesgavwk qvyqdlgipv lnsaagynvk caykkylygf eeycrsanie fqmalpekvv
      121 nkqckecenv keikvkeene teikeikmee erniipreek piedeierke nikpslgskk
      181 nllesipths dqekevnikk pednenlddk dddttrvdes lnikveaeee kaksgdetnk
      241 eededdeeae eeeeeeeeee deddddnnee eefecyppgm kvqvrygrgk nqkmyeasik
      301 dsdveggevl ylvhycgwnv rydewikadk ivrpadknvp kikhrkkikn kldkekdkde
      361 kyspkncklr rlskppfqtn pspemvskld ltdaknsdta hiksieitsi lnglqasess
      421 aedseqeder gaqdmdnngk eeskidhltn nrndliskee qnssslleen kvhadlvisk
      481 pvsksperlr kdievlsedt dyeedevtkk rkdvkkdttd ksskpqikrg krrycnteec
      541 lktgspgkke ekaknkeslc menssnsssd edeeetkakm tptkkyngle ekrkslrttg
      601 fysgfsevae krikllnnsd erlqnsrakd rkdvwssiqg qwpkktlkel fsdsdteaaa
      661 spphpapeeg vaeeslqtva eeescspsve lekpppvnvd skpieektve vndrkaefps
      721 sgsnsvlntp pttpespssv tvtegsrqqs svtvseplap nqeevrsiks etdstievds
      781 vagelqdlqs egnsspagfd asvsssssnq pepehpekac tgqkrvkdaq gggssskkqk
      841 rshkatvvnn kkkgkgtnss dseelsages itksqpvksv stgmkshstk spartqspgk
      901 cgkngdkdpd lkepsnrlpk vykwsfqmsd lenmtsaeri tilqeklqei rkhylslkse
      961 vasidrrrkr lkkkeresaa tsssssspss ssitaavmlt laepsmssas qngmsvecr
//
LOCUS       XP_016857596             279 aa            linear   PRI 20-MAR-2023
DEFINITION  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1
            isoform X1 [Homo sapiens].
ACCESSION   XP_016857596
VERSION     XP_016857596.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002107.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..279
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..279
                     /product="nicotinamide/nicotinic acid mononucleotide
                     adenylyltransferase 1 isoform X1"
                     /calculated_mol_wt=31801
     Region          9..254
                     /region_name="NMNAT_Eukarya"
                     /note="Nicotinamide/nicotinate mononucleotide
                     adenylyltransferase, Eukaryotic; cd09286"
                     /db_xref="CDD:185681"
     Site            order(13..17,21,23..24,27,153,155..156,158,221)
                     /site_type="active"
                     /db_xref="CDD:185681"
     Site            21..24
                     /site_type="other"
                     /note="(T/H)XGH motif"
                     /db_xref="CDD:185681"
     CDS             1..279
                     /gene="NMNAT1"
                     /gene_synonym="LCA9; NMNAT; PNAT1; SHILCA"
                     /coded_by="XM_017002107.3:354..1193"
                     /db_xref="GeneID:64802"
                     /db_xref="HGNC:HGNC:17877"
                     /db_xref="MIM:608700"
ORIGIN      
        1 mensektevv llacgsfnpi tnmhlrlfel akdymngtgr ytvvkgiisp vgdaykkkgl
       61 ipayhrvima elatknskwv evdtweslqk ewketlkvlr hhqekleasd cdhqqnsptl
      121 erpgrkrkwt etqdssqkks lepktkavpk vkllcgadll esfavpnlwk seditqivan
      181 yglicvtrag ndaqkfiyes dvlwkhrsni hvvnewiand isstkirral rrgqsirylv
      241 pdlvqeyiek hnlyssesed rnagvilapl qrntaeakt
//
LOCUS       XP_047286776             584 aa            linear   PRI 20-MAR-2023
DEFINITION  putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 isoform
            X1 [Homo sapiens].
ACCESSION   XP_047286776
VERSION     XP_047286776.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430820.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..584
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..584
                     /product="putative RNA polymerase II subunit B1 CTD
                     phosphatase RPAP2 isoform X1"
                     /calculated_mol_wt=66370
     Region          80..152
                     /region_name="RPAP2_Rtr1"
                     /note="Rtr1/RPAP2 family; pfam04181"
                     /db_xref="CDD:427766"
     CDS             1..584
                     /gene="RPAP2"
                     /gene_synonym="C1orf82; Rtr1"
                     /coded_by="XM_047430820.1:16..1770"
                     /db_xref="GeneID:79871"
                     /db_xref="HGNC:HGNC:25791"
                     /db_xref="MIM:611476"
ORIGIN      
        1 madfagpssa grkagaprcs rkaagtkqts tlkqedaskr kaeleaavrk kieferkalh
       61 iveqlleeni teeflmecgr fitpahysdv vdersivklc gyplcqkklg ivpkqkykis
      121 tktnkvydit erksfcsnfc yqaskffeaq ipktpvwvre eerhpdfqll keeqsghsge
      181 evqlcskaik tsdidnpshf ekqyesssss thsdsssdne qdfvssilpg nrpnstnirp
      241 qlhqksimkk kaghkanskh kdkeqtvvdv teqlgdckld sqekdatcel plqkvntqss
      301 snstlperlk asenseseys rseitlvgis kksaehfkrk faksnqvsrs vsssvqvcpe
      361 vgkrnllkvl ketliewkte etlrflygqn yasvclkpea slvkeelded diisdpdshf
      421 pawresqnsl deslpfrgsg taikplpsye nlkketekln lrirefyrgr yvlgeettks
      481 qdseehdstf plidsssqnq irkrivlekl skvlpgllvp lqitlgdiyt qlknlvrtfr
      541 ltnrniihkp aewtliamvl lsfllnvktr iktfmmiyfh lmnn
//
LOCUS       XP_047287507             805 aa            linear   PRI 20-MAR-2023
DEFINITION  espin isoform X6 [Homo sapiens].
ACCESSION   XP_047287507
VERSION     XP_047287507.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431551.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..805
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..805
                     /product="espin isoform X6"
                     /calculated_mol_wt=88340
     Region          91..116
                     /region_name="WH2"
                     /note="WH2 motif; pfam02205"
                     /db_xref="CDD:396675"
     CDS             1..805
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /coded_by="XM_047431551.1:237..2654"
                     /db_xref="GeneID:83715"
                     /db_xref="HGNC:HGNC:13281"
                     /db_xref="MIM:606351"
ORIGIN      
        1 mahseeaall pgnhvpngca adpkasrelp pppppppppl peaasspppa pplplesagp
       61 gcgqrrssss tgkvrvlrhr kstksfnmms ptgdnsella eikagkslkp tpqskglttv
      121 fsgigqpafq pdsplpsvsp alspvrsptp paagfqplln gslvpvpptt papgvqldve
      181 alipthdeqg rpipewkrqv mvrkmqlkmq eeeeqrrklt aassccypre gwrysrehna
      241 ilgpfgelmt eadilrieqq ienlqvlhka qklearleql eleleqllpi saalsaprft
      301 vdprrmhgra aslpawcski stllknmatl laalggrpah laelltadtg qplaplpdap
      361 wlpgplclgr shslswcrea vareilecgv svqhlratye lrargaapar cprrkppqsa
      421 gapgrepile edyvaarsgq psaaaahgpl vdweplgtlg ppevqdrqaa lpepeqlarr
      481 pplctklrgv qdyldlrker ivylflehwr rwacrgpgrr aqarlrgllp rvaaagagpg
      541 leatdaprlp asnseahspd erlrqllrqr qavgkllghw rsllrrvpas pglahglywp
      601 qhflppldgg apphydsltl dlfmlgyfql lemglsreer kfrhllcyem fdrlgshpwe
      661 rirlfhrvvl eeveagrrgw sdgfedlrhr ffgngleaep apeeqakeke eegkeqerte
      721 eaapfqtgdp pegqpealap apqppppppp aappptsdsp gseapaedpl elvsemgefs
      781 nedicryidr sfsfwkekea elfdi
//
LOCUS       XP_047284042             351 aa            linear   PRI 20-MAR-2023
DEFINITION  RAD51-associated protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047284042
VERSION     XP_047284042.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428086.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..351
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..351
                     /product="RAD51-associated protein 1 isoform X2"
                     /calculated_mol_wt=38363
     Region          <327..348
                     /region_name="RAD51_interact"
                     /note="RAD51 interacting motif; pfam15696"
                     /db_xref="CDD:434865"
     CDS             1..351
                     /gene="RAD51AP1"
                     /gene_synonym="PIR51"
                     /coded_by="XM_047428086.1:51..1106"
                     /db_xref="GeneID:10635"
                     /db_xref="HGNC:HGNC:16956"
                     /db_xref="MIM:603070"
ORIGIN      
        1 mvrpvrhkkp vnysqfdhsd sdddfvsatv plnkksrtap kelkqdkpkp nlnnlrkeei
       61 pvqektpkkr malddklyqr dlevalalsv kelptvttnv qnsqdksiek hgsskietmn
      121 ksphisncsv asdyldldki tveddvggvq gkrkaaskaa aqqrkilleg sdgdsandte
      181 pdfapgedse ddsdfcesed ndedfsmrks kvkeikkkev kvkspvekke kkskskcnal
      241 vtsvdsapaa vksesqslpk kvslssdttr kpleirspsa eskkpkwvpp gmaylssrtg
      301 awkiitaasg gsrssssplv vvsvkspnqs lrlglsrlar vkplhpnats t
//
LOCUS       XP_005269086            1256 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and sterile alpha motif domain-containing protein 1B
            isoform X6 [Homo sapiens].
ACCESSION   XP_005269086
VERSION     XP_005269086.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005269029.6
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1256
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1256
                     /product="ankyrin repeat and sterile alpha motif
                     domain-containing protein 1B isoform X6"
                     /calculated_mol_wt=138776
     Region          7..385
                     /region_name="PHA02874"
                     /note="ankyrin repeat protein; Provisional"
                     /db_xref="CDD:165205"
     Region          7..56
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(58,60,64..65,68..70,72..73,77,80,89,91,93,97..98,
                     101..103,105..106,110,113,125,127,129,133..134,137..139,
                     141..142,146,149,158)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          58..89
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          63..158
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          91..125
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          127..158
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          160..191
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          165..256
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          193..223
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          226..256
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          807..873
                     /region_name="SAM_AIDA1AB-like_repeat1"
                     /note="SAM domain of AIDA1AB-like proteins, repeat 1;
                     cd09499"
                     /db_xref="CDD:188898"
     Site            order(829..832,834,836..837,840..841,843..844,847,
                     850..851)
                     /site_type="other"
                     /note="intramolecular dimer interface ML [polypeptide
                     binding]"
                     /db_xref="CDD:188898"
     Region          878..942
                     /region_name="SAM_AIDA1AB-like_repeat2"
                     /note="SAM domain of AIDA1AB-like proteins, repeat 2;
                     cd09500"
                     /db_xref="CDD:188899"
     Site            order(928..931,933..934)
                     /site_type="other"
                     /note="intramolecular dimer interface EH [polypeptide
                     binding]"
                     /db_xref="CDD:188899"
     Region          1042..1191
                     /region_name="PTB_Anks"
                     /note="Ankyrin repeat and sterile alpha motif (SAM)
                     domain-containing (Anks) protein family
                     Phosphotyrosine-binding (PTB) domain; cd01274"
                     /db_xref="CDD:269972"
     Site            order(1061,1140,1160)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269972"
     Site            order(1129..1134,1147,1171,1175)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269972"
     CDS             1..1256
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /coded_by="XM_005269029.6:700..4470"
                     /db_xref="GeneID:56899"
                     /db_xref="HGNC:HGNC:24600"
                     /db_xref="MIM:607815"
ORIGIN      
        1 mgkdqellea artgnvalve kllsgrkggi lgggsgplpl snllsiwrgp nvnctdssgy
       61 talhhaalng hkdivlkllq yeastnvadn kgyfpihlaa wkgdveivki lihhgpshsr
      121 vneqnnenet alhcaaqygh sevvavllee ltdptirnsk letpldlaal ygrlrvvkmi
      181 isahpnlmsc ntrkhtplhl aarnghkavv qvlleagmdv scqtekgsal heaalfgkvd
      241 vvrvlletgi danikdslgr tvldilkehp sqkslqiatl lqeylegvgr stvleepvqe
      301 datqethiss pvespsqktk setvtgelsk lldeiklcqe kdysfedlch tisdhyldnl
      361 skiseeelgk ngsqsvrtss tinlspgeve eedddentcg psglwealtp cngcrnlgfp
      421 mlaqesypkk rnytmeivps asldtfpsen enflcdlmdt avtkkpcsle iarapsprtd
      481 nasevavttp gtsnhrnsst gptpdcspps pdtalknivk virpqpkqrt sivssldfhr
      541 mnhnqeyfei ntstgctsft asppasppts svgttevkne gtnhtddlsr qddndppkey
      601 dpgqfagllh gsspacespe npfhlygkre qcekgqdevs lansplpfkq spiennsepl
      661 vkkikpkvvs rtifhkksnq lenhtivgtr strsgsrngd qwvmnaggfv eractlgrir
      721 slpkalidmh lsksvsksds dliaypsnek tsrvnwsess taehsskgns ertpsftsew
      781 eeidkimssi dvginnelke mngprcpvqt vgqwlesigl pqyenhlman gfdnvqfmgs
      841 nvmedqdlle igilnsghrq rilqaiqllp kmrpighdgy hptsvaewld sielgdytka
      901 flingytsmd llkkiwevel invlkinlig hrkrilaslg drlhddppqk pprsitlrep
      961 sgnhtppqls pslsqstytt ggsldvphii mqgdarrrrn enyfddiprs klerqmaqtg
     1021 dwgepsitlr ppneatastp vqywqhhpek lifqscdyka fylgsmlike lrgtestqda
     1081 cakmrancqk steqmkkvpt iilsvsykgv kfidatnkni iaeheirnis caaqdpedls
     1141 tfayitkdlk snhhychvft afdvnlayei iltlgqafev ayqlalqark gghsstlpes
     1201 fenkpskpip kprvsirksv qidpseqktl anlpwivepg qeakrgintk yettif
//
LOCUS       XP_016876745            1577 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 6 isoform X4 [Homo sapiens].
ACCESSION   XP_016876745
VERSION     XP_016876745.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017021256.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1577
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1577
                     /product="tetratricopeptide repeat protein 6 isoform X4"
                     /calculated_mol_wt=182376
     Region          600..628
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          607..1499
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     Region          633..663
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          669..696
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          701..730
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(736,739..740,743..744,746,770,773..774,777..778,
                     780..781,804,807..808,811,814)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          736..763
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          768..798
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          840..866
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          874..901
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(876..877,880..881,884,908,911..912,915..916,
                     918..919,942,945..946,949..950,953)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          906..936
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          975..1000
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1014..1037
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1053..1081
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1086..1115
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1130..1156
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(1132..1133,1136..1137,1139,1163,1166..1167,
                     1170..1171,1173..1174,1197,1200..1201,1204..1205,1208)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          1161..1191
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1196..1219
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1235..1261
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(1237..1238,1241..1242,1244,1268,1271..1272,
                     1275..1276,1278..1279,1302,1305..1306,1309..1310,1313)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          1266..1296
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1301..1331
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1338..1366
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1371..1401
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1405..1433
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1441..1467
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(1443..1444,1447..1448,1450,1474,1477..1478,
                     1481..1482,1484..1485,1508,1511..1512,1515..1516,1519)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          1472..1502
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1489..>1576
                     /region_name="PilF"
                     /note="Tfp pilus assembly protein PilF [Cell motility,
                     Extracellular structures]; COG3063"
                     /db_xref="CDD:225605"
     Region          1507..1535
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1541..1569
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..1577
                     /gene="TTC6"
                     /gene_synonym="C14orf25; NCRNA00291"
                     /coded_by="XM_017021256.2:1952..6685"
                     /db_xref="GeneID:319089"
                     /db_xref="HGNC:HGNC:19739"
ORIGIN      
        1 mgkmylktsp mqaetpeiqa eykfqmgaee sqmsvhkels etmssilqie qediewgpse
       61 aesivfkpqe isqvqpaeel skpledgqpt sdskeakwvs ltakspeflq iegkeikrmr
      121 krkslrprks skplcdkklh kkipqdysmp hlhdlcttip aqelpvdlrl asrvyhtanr
      181 kghdtllgkf gtsflddrft deeqtdrily gipvmddnqe yvhipptpqg ippelaqgtr
      241 erahkphlev lgeemyaype ftklfwntaa pkfsvpesvm ketlypkyes vqasrlltdk
      301 lsykssvitl hqhsrtnfwc flprksasfe siqkwfsaqp tqlrrvkssv dlrkekiiap
      361 leikndmqss ikevmfqkak elkrqlqltk qnkteepnyv kesiddifdn mcekhslrnl
      421 sltlieaskk agisyivypk kkkmrwkkrl kqqklifvhe elskppksle rsashgilpg
      481 qkkylfkvpl yerqircpsl plylnfekfv qakggipeni dprtwaldrl ieykdasipv
      541 kekddkisvp edppervkep pklklndyve sdlpqeviky yesevkilte eindktkypa
      601 faycrrgaiy rklgklqsam ndlqrville plflnaywhr hliylfqdki nealddlnyi
      661 hkynknntea ylskaeiyrg kkditlailn ytqaikstpt dadiyfrrge myeitnkvla
      721 iddfskcify dpkrtdallk rglfycenen wfaaiedfta llnidhqnsq artyrgiayv
      781 kwkfykeatq dfsaaihldp nnwlalyyrg clfrksnpfr alqdysvsal indgyenlgc
      841 flhrgivyah lklwllaicd fetvislert itlayvnigl ihllhldnyt eaiwqfseai
      901 ridplciqsy lcraetyfkl hklkkavnel sraihlqpdg iqlyirrgqy llmmkyydla
      961 kftiyqiaem dkglselspm qqaliysfce nhdkaievld giswnraemt mcallakvqm
     1021 kakrtkeave vlkkaldais hsdkgpdata isadclynlg lcymeegnlq mafdsftkav
     1081 kanpdfaesf yqrglckvkl hkdssildfn raitlnpkhy qemhtgglga ylsrvafygl
     1141 kgryskailn cnkaikiype svraylyrgv lkyynktykl aitdlttais mdknsytafy
     1201 nralcytkir elqmaltdyg ivllldatet vklntflnrg liyvelgqyg faledfkqaa
     1261 lisrtngslc hatamchhri nefeeavnff twalkinpcf ldayvgrgns ymeyghdeat
     1321 kqaqkdflka lhinpayika risfgynlqa qgkfqkawnh ftiaidtdpk nylayegrav
     1381 vclqmgnnfa amqdinaamk isttaefltn rgvihefmgh kqnamkdyqd aitlnpkysl
     1441 ayfnagniyf hhrqfsqasd yfskalkfdp eneyvlmnra itntilkkye eakedfanvi
     1501 escpfwaavy fnrahfyycl kqyelaeedl nkalslkpnd alvynfrakv rgkiglieea
     1561 madynqaldl edyasvi
//
LOCUS       XP_047287675            1319 aa            linear   PRI 20-MAR-2023
DEFINITION  son of sevenless homolog 2 isoform X7 [Homo sapiens].
ACCESSION   XP_047287675
VERSION     XP_047287675.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431719.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 7% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1319
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1319
                     /product="son of sevenless homolog 2 isoform X7"
                     /calculated_mol_wt=151375
     Region          57..156
                     /region_name="Histone"
                     /note="Core histone H2A/H2B/H3/H4; pfam00125"
                     /db_xref="CDD:425478"
     Region          186..373
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(192,196,297,325..326,329..330,332..333,336..337,
                     340..341,344,369,373)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          424..530
                     /region_name="PH_SOS"
                     /note="Son of Sevenless (SOS) Pleckstrin homology (PH)
                     domain; cd01261"
                     /db_xref="CDD:269963"
     Region          582..726
                     /region_name="RasGEFN"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     GTPases; N-terminal motif; smart00229"
                     /db_xref="CDD:214571"
     Site            order(601,668,672..673,676,679..680,713..714,717,724)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:100121"
     Region          761..1000
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases. Small GTP-binding proteins of the Ras
                     superfamily function as molecular switches in fundamental
                     events such as signal transduction, cytoskeleton dynamics
                     and intracellular trafficking; cd00155"
                     /db_xref="CDD:238087"
     Site            order(794..796,806..807,809..811,813..814,817..818,821,
                     854,857..858,860..862,864..867,869..870,890,896..898,901,
                     914..916,919..921,923..925,927..930,948,952,992,995..996)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     CDS             1..1319
                     /gene="SOS2"
                     /gene_synonym="NS9; SOS-2"
                     /coded_by="XM_047431719.1:394..4353"
                     /db_xref="GeneID:6655"
                     /db_xref="HGNC:HGNC:11188"
                     /db_xref="MIM:601247"
ORIGIN      
        1 mvlfhcpldv llqhlwvqeq vhptlsanee slyyieelif qllnklcmaq prtvqdveer
       61 vqktfphpid kwaiadaqsa iekrkrrnpl llpvdkihps lkevlgykvd yhvslyivav
      121 leyisadilk lagnyvfnir hyeisqqdik vsmcadkvlm dmfdqddigl vslcedepss
      181 sgelnyydlv rteiaeerqy lrelnmiikv freaflsdrk lfkpsdieki fsnisdihel
      241 tvkllglied tvemtdessp hplagscfed laeeqafdpy etlsqdilsp efhehfnklm
      301 arpavalhfq siadgfkeav ryvlprlmlv pvyhcwhyfe llkqlkacse eqedreclnq
      361 aitalmnlqg smdriykqys prrrpgdpvc pfyshqlrsk hlaikkmnei qknidgwegk
      421 digqccnefi megpltriga kherhiflfd glmisckpnh gqtrlpgyss aeyrlkekfv
      481 mrkiqicdke dtcehkhafe lvskdensii faaksaeekn nwmaalislh yrstldrmld
      541 svllkeeneq plrlpspevy rfvvkdseen ivfednlqsr sgipiikggt vvklierlty
      601 hmyadpnfvr tflttyrsfc kpqellslli erfeipepep tdadklaiek geqpisadlk
      661 rfrkeyvqpv qlrilnvfrh wvehhfydfe rdlellerle sfissvrgka mkkwvesiak
      721 iirrkkqaqa ngvshnitfe sppppiewhi skpgqfetfd lmtlhpieia rqltllesdl
      781 yrkvqpselv gsvwtkedke inspnllkmi rhttnltlwf ekciveaenf eervavlsri
      841 ieilqvfqdl nnfngvleiv savnsvsvyr ldhtfealqe rkrkildeav elsqdhfkky
      901 lvklksinpp cvpffgiylt nilkteegnn dflkkkgkdl infskrrkva eitgeiqqyq
      961 nqpyclriep dmrrffenln pmgsasekef tdylfnksle ieprnckqpp rfprkstfsl
     1021 kspgirpntg rhgstsgtlr ghptplerep ckisfsriae telestvsap tspntpstpp
     1081 vsassdlsvf ldvdlnsscg snsifapvll phsksffssc gslhklseep lippplpprk
     1141 kfdhdasnsk gnmksdddpp aipprqpppp kvkprvpvpt gafdgplhsp ppppprdplp
     1201 dtpppvplrp pehfincpfn lqppplghlh rdsdwlrdis tcpnspstpp stpsprvprr
     1261 cyvlsssqnn lahppappvp prqnssphlp klppktykre lshpplyrlp llenaetpq
//
LOCUS       XP_047289554             165 aa            linear   PRI 20-MAR-2023
DEFINITION  CKLF-like MARVEL transmembrane domain-containing protein 3 isoform
            X4 [Homo sapiens].
ACCESSION   XP_047289554
VERSION     XP_047289554.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433598.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..165
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..165
                     /product="CKLF-like MARVEL transmembrane domain-containing
                     protein 3 isoform X4"
                     /calculated_mol_wt=17621
     Region          <7..32
                     /region_name="Collagen"
                     /note="Collagen triple helix repeat (20 copies);
                     pfam01391"
                     /db_xref="CDD:396114"
     Region          35..132
                     /region_name="MARVEL"
                     /note="Membrane-associating domain; pfam01284"
                     /db_xref="CDD:366555"
     CDS             1..165
                     /gene="CMTM3"
                     /gene_synonym="BNAS2; CKLFSF3"
                     /coded_by="XM_047433598.1:217..714"
                     /db_xref="GeneID:123920"
                     /db_xref="HGNC:HGNC:19174"
                     /db_xref="MIM:607886"
ORIGIN      
        1 mwvllcepga palsgprglg qlgppglpgr sgglsfitfi cyvassasaf ltapllefll
       61 alyflfadam qlndkwqglc wpmmdflrcv taaliyfais itaiakysdg askaagvfgf
      121 fativfatdf ylifndvakf lkqgdsadet tahkteeens dsdsd
//
LOCUS       XP_047290033             264 aa            linear   PRI 20-MAR-2023
DEFINITION  testis, prostate and placenta-expressed protein isoform X2 [Homo
            sapiens].
ACCESSION   XP_047290033
VERSION     XP_047290033.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434077.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..264
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..264
                     /product="testis, prostate and placenta-expressed protein
                     isoform X2"
                     /calculated_mol_wt=29681
     CDS             1..264
                     /gene="TEPP"
                     /coded_by="XM_047434077.1:94..888"
                     /db_xref="GeneID:374739"
                     /db_xref="HGNC:HGNC:33745"
                     /db_xref="MIM:610264"
ORIGIN      
        1 mariidlvpw ddgsthvyas paillpmerq rnqlagvkqq lyhpalptlr hmdrdtvkac
       61 lpdehcqstt ycrkdefdna hftllgvpnk plqclditat gqklrnryhe gklapiapgi
      121 nrvdwpcftr aiedwshfvs sagefklpcl rkrvlpqpep qpgplrteap afrlpehfpk
      181 lrlqlqscql pdplalisgk eadsqaagrc hlrspgqted lwwhqpspqe fsltrnkpna
      241 plethaivsv cvcctawerv ratg
//
LOCUS       XP_011521533             737 aa            linear   PRI 20-MAR-2023
DEFINITION  translin-associated factor X-interacting protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_011521533
VERSION     XP_011521533.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523231.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..737
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..737
                     /product="translin-associated factor X-interacting protein
                     1 isoform X2"
                     /calculated_mol_wt=85330
     Region          <102..370
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          108..210
                     /region_name="TSNAXIP1_N"
                     /note="Translin-associated factor X-interacting
                     N-terminus; pfam15739"
                     /db_xref="CDD:434897"
     CDS             1..737
                     /gene="TSNAXIP1"
                     /gene_synonym="TXI1"
                     /coded_by="XM_011523231.3:262..2475"
                     /db_xref="GeneID:55815"
                     /db_xref="HGNC:HGNC:18586"
                     /db_xref="MIM:607720"
ORIGIN      
        1 macqqsryhs fssasrlqpr psgvtidesf ltedkstqnr kllqkrrtlt gqfsmgghls
       61 pwptytsgqt ilqnrkpcsd dyrkrvgscq qhpfrtakpq yleelenylr kelllldlgt
      121 dstqelrlqp yreifeffie dfktykplls siknayegml ahqrekiral eplkaklvtv
      181 nedcnerila mraeekyeis llkkekmnll klidkkneek islqsevtkl rknlaeeylh
      241 ylserdacki liadlnelry qredmslaqs pgiwgedpvk ltlalkmtrq dltrtqmeln
      301 nmkanfgdvv prrdfemqek tnkdlqeqld tlrasyeevr keheilmqlh mstlkerdqf
      361 fselqeiqrt stprpdwtkc kgegsrqgpr sclhvgpdss slsphadvva ggperwqmla
      421 egknsdqlvd vlleeigsgl lrekdffpgl gygeaipafl rfdglvenkk pskkdvvnll
      481 kdawkerlae eqketfpdff fnflehrfgp sdamawayti fenikifhsn evmsqfyavl
      541 mgkrsenvyv tqketvaqll kemtnadsqn eglltmeqfn tvlkstfplk teeqiqelme
      601 aggwhpsssn adllnyrslf medeegqsep fvqklweqym dekdeylqql kqelgielhe
      661 evtlpklrgg lmtidpsldk qtvntymsqa fqlpesempe egdekeeavv eilqtalerl
      721 qvidirrvgp repepas
//
LOCUS       XP_047291135             750 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase tousled-like 2 isoform X12 [Homo
            sapiens].
ACCESSION   XP_047291135
VERSION     XP_047291135.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435179.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..750
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..750
                     /product="serine/threonine-protein kinase tousled-like 2
                     isoform X12"
                     /calculated_mol_wt=85313
     Region          206..>503
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          433..741
                     /region_name="STKc_TLK2"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Tousled-Like Kinase 2; cd14041"
                     /db_xref="CDD:270943"
     Site            order(446..450,454,467,469,505,522..525,529,531,570,572,
                     574..575,577,591,594,617..620)
                     /site_type="active"
                     /db_xref="CDD:270943"
     Site            order(446..450,454,467,469,505,522..525,529,570,572,
                     574..575,577,591)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270943"
     Site            order(450,529,531,570,572,574,594,617..620)
                     /site_type="other"
                     /note="polypeptide substrate binding site"
                     /db_xref="CDD:270943"
     Site            order(590..596,617..620)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270943"
     CDS             1..750
                     /gene="TLK2"
                     /gene_synonym="HsHPK; MRD57; PKU-ALPHA"
                     /coded_by="XM_047435179.1:277..2529"
                     /db_xref="GeneID:11011"
                     /db_xref="HGNC:HGNC:11842"
                     /db_xref="MIM:608439"
ORIGIN      
        1 mmeelhsldp rrqellearf tgvgvskgpl nsessnqslc svgslsdkev etpekkqndq
       61 rnrkrkaepy etsqgkgtpr ghkisdyfef aggsapgtsp grsvppvars spqhslsnpl
      121 prrveqplyg ldgsaakeat eeqsalptlm svmlakprld teqlaqrgag lcftfvsaqq
      181 nspsstgsgn tehscssqkq isiqhrqtqs dltiekisal ensknsdlek kegriddllr
      241 ancdlrrqid eqqkmlekyk erlnrcvtms kklliekskq ekmacrdksm qdrlrlghft
      301 tvrhgasfte qwtdgyafqn likqqerins qreeierqrk mlakrkppam gqappatneq
      361 kqrksktnga enetltlaey heqeeifklr lghlkkeeae iqaelerler vrnlhirelk
      421 rihnednsqf kdhptlndry lllhllgrgg fsevykafdl teqryvavki hqlnknwrde
      481 kkenyhkhac reyrihkeld hprivklydy fsldtdsfct vleycegndl dfylkqhklm
      541 sekearsiim qivnalkyln eikppiihyd lkpgnillvn gtacgeikit dfglskimdd
      601 dsynsvdgme ltsqgagtyw ylppecfvvg keppkisnkv dvwsvgvify qclygrkpfg
      661 hnqsqqdilq entilkatev qfppkpvvtp eakafirrcl ayrkedridv qqlacdpyll
      721 phirksvsts spagaaiast sgasnnsssn
//
LOCUS       XP_005257207            3158 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleosome-remodeling factor subunit BPTF isoform X1 [Homo
            sapiens].
ACCESSION   XP_005257207
VERSION     XP_005257207.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005257150.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3158
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..3158
                     /product="nucleosome-remodeling factor subunit BPTF
                     isoform X1"
                     /calculated_mol_wt=350137
     Region          240..299
                     /region_name="DDT"
                     /note="domain in different transcription and chromosome
                     remodeling factors; smart00571"
                     /db_xref="CDD:214726"
     Region          392..434
                     /region_name="PHD1_BPTF"
                     /note="PHD finger 1 found in bromodomain and PHD
                     finger-containing transcription factor (BPTF); cd15559"
                     /db_xref="CDD:277034"
     Site            order(392,401..405,409,429)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277034"
     Region          456..522
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          <2183..2554
                     /region_name="Glutenin_hmw"
                     /note="High molecular weight glutenin subunit; pfam03157"
                     /db_xref="CDD:367362"
     Region          2742..2972
                     /region_name="TNG2"
                     /note="Chromatin remodeling protein, contains PhD zinc
                     finger [Chromatin structure and dynamics]; COG5034"
                     /db_xref="CDD:227367"
     Region          2923..2969
                     /region_name="PHD2_3_BPTF"
                     /note="PHD finger 2 and 3 found in bromodomain and PHD
                     finger-containing transcription factor (BPTF); cd15560"
                     /db_xref="CDD:277035"
     Site            order(2923,2930,2932,2935..2940,2943,2945,2955,2958,
                     2961..2962)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:277035"
     Region          2981..3027
                     /region_name="PHD2_3_BPTF"
                     /note="PHD finger 2 and 3 found in bromodomain and PHD
                     finger-containing transcription factor (BPTF); cd15560"
                     /db_xref="CDD:277035"
     Site            order(2981,2988,2990,2993..2998,3001,3003,3013,3016,
                     3019..3020)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:277035"
     Region          3043..3143
                     /region_name="Bromo_gcn5_like"
                     /note="Bromodomain; Gcn5_like subfamily. Gcn5p is a
                     histone acetyltransferase (HAT) which mediates acetylation
                     of histones at lysine residues; such acetylation is
                     generally correlated with the activation of transcription.
                     Bromodomains are 110 amino acid long...; cd05509"
                     /db_xref="CDD:99941"
     Site            order(3068,3073,3076,3115,3119,3125)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99941"
     CDS             1..3158
                     /gene="BPTF"
                     /gene_synonym="FAC1; FALZ; NEDDFL; NURF301"
                     /coded_by="XM_005257150.4:223..9699"
                     /db_xref="GeneID:2186"
                     /db_xref="HGNC:HGNC:3581"
                     /db_xref="MIM:601819"
ORIGIN      
        1 mrgrrgrppk qpaapaaerc apappppppp ptsgpigglr srhrgssrgr waaaqaevap
       61 ktrlssprgg sssrrkpppp ppappstsap grggrggggg rtgggggggh larttaarra
      121 vnkvvyddhe seeeeeeedm vseeeeeedg daeetqdsed deedemeedd ddsdypeeme
      181 dddddasyct essfrshsty sstpgrrkpr vhrprspile ekdipplefp kssedlmvpn
      241 ehimnviaiy evlrnfgtvl rlspfrfedf caalvsqeqc tlmaemhvvl lkavlreedt
      301 snttfgpadl kdsvnstlyf idgmtwpevl rvycesdkey hhvlpyqeae dypygpvenk
      361 ikvlqflvdq flttniaree lmsegviqyd dhcrvchklg dllccetcsa vyhlecvkpp
      421 leevpedewq cevcvahkvp gvtdcvaeiq knkpyirhep igydrsrrky wflnrrliie
      481 edtenenekk iwyystkvql aelidcldkd yweaelckil eemreeihrh mditedltnk
      541 argsnksfla aaneeilesi rakkgdidnv kspeetekdk netendskda eknreefedq
      601 slekdsddkt pdddpeqgks eeptevgdkg nsvsanlgdn ttnatseets psegrspvgc
      661 lsetpdssnm aekkvaselp qdvpeepnkt cessntsatt tsiqpnlens nssselnssq
      721 sesakaaddp engereshtp vsiqeeivgd fkseksngel sespgagkga sgstriitrl
      781 rnpdsklsql ksqqvaaaah eanklfkegk evlvvnsqge isrlstkkev imkgninnyf
      841 klgqegkyrv yhnqystnsf alnkhqhred hdkrrhlahk fcltpagefk wngsvhgskv
      901 ltistlrlti tqlennipss flhpnwashr anwikavqmc skprefalal ailecavkpv
      961 vmlpiwresl ghtrlhrmts iereekekvk kkekkqeeee tmqqatwvky tfpvkhqvwk
     1021 qkgeeyrvtg yggwswiskt hvyrfvpklp gntnvnyrks legtknnmde nmdesdkrkc
     1081 srspkkikie pdsekdevkg sdaakgadqn emdiskitek kdqdvkelld sdsdkpckee
     1141 pmevdddmkt eshvncqess qvdvvnvseg fhlrtsykkk tksskldgll errikqftle
     1201 ekqrlekikl eggikgigkt stnssknlse spvitkakeg cqsdsmrqeq spnanndqpe
     1261 dliqgcsesd ssvlrmsdps httnklypkd rvlddvsirs petkcpkqns iendieekvs
     1321 dlasrgqeps ksktkgndff iddsklasad digtlicknk kpliqeesdt ivsssksalh
     1381 ssvpkstndr datplsramd fegklgcdse snstlenssd tvsiqdssee dmivqnsnes
     1441 iseqfrtreq dvevleplkc elvsgestgn cedrlpvkgt eangkkpsqq kkleerpvnk
     1501 csdqiklknt tdkknnenre sekkgqrtst fqingkdnkp kiylkgeclk eisesrvvsg
     1561 nvepkvnnin kiipendiks ltvkesairp fingdvimed fnernssetk shllsssdae
     1621 gnyrdsletl pstkesdstq tttpsascpe snsvnqvedm eietsevkkv tsspitseee
     1681 snlsndfide nglpinknen vngeskrktv itevttmtst vatesktvik vekgdkqtvv
     1741 sstencakst vttttttvtk lstpstggsv diisvkeqsk tvvtttvtds ltttggtlvt
     1801 smtvskeyst rdkvklmkfs rpkktrsgta lpsyrkfvtk sskksifvlp nddlkklark
     1861 ggirevpyfn ynakpaldiw pypsprptfg itwryrlqtv kslagvslml rllwaslrwd
     1921 dmaakappgg gttrtetset eittteiikr rdvgpygirs eycirkiicp igvpetpket
     1981 ptpqrkglrs salrpkrpet pkqtgpviie twvaeeelel weirafaerv ekekaqaveq
     2041 qakkrleqqk ptviatstts ptssttstis paqkvmvapi sgsvttgtkm vlttkvgspa
     2101 tvtfqqnknf hqtfatwvkq gqsnsatsta atsattiast gqtfqitgnp vtmagkvitk
     2161 lplpanskiv avnvpatqgg vvqvqqkvlg iipsstgtsq qtftsfqprt atvtirpnts
     2221 gsggttsnsq vitgpqirpg mtvirtplqq stlgkaiirt pvmvqpgapq qvmtqiirgq
     2281 pvstavsapn tvsstpgqks ltsatstsni qssasqpprp qqgqvkltma qltqltqghg
     2341 gnqgltvviq gqgqttgqlq lipqgvtvlp gpgqqlmqaa mpngtvqrfl ftplattatt
     2401 astttttvst taagtgeqrq sklspqmqvh qdktlppaqs ssvgpaeaqp qtaqpsaqpq
     2461 pqtqpqspaq pevqtqpevq tqttvsshvp seaqpthaqs skpqvaaqsq pqsnvqgqsp
     2521 vrvqspsqtr irpstpsqls pgqqsqvqtt tsqpipiqph tslqipsqgq pqsqpqvqss
     2581 tqtlssgqtl nqvtvsspsr pqlqiqqpqp qviavpqlqq qvqvlsqiqs qvvaqiqaqq
     2641 sgvpqqiklq lpiqiqqssa vqthqiqnvv tvqaasvqeq lqrvqqlrdq qqkkkqqqie
     2701 ikrehtlqas nqseiiqkqv vmkhnavieh lkqkksmtpa ereenqrmiv cnqvmkyild
     2761 kidkeekqaa kkrkreesve qkrskqnatk lsallfkhke qlraeilkkr alldkdlqie
     2821 vqeelkrdlk ikkekdlmql aqatavaapc ppvtpappap papppspppp pavqhtglls
     2881 tptlpaasqk rkreeekdss skskkkkmis ttsketkkdt klycicktpy deskfyigcd
     2941 lctnwyhgec vgitekeakk mdvyicndck raqegsseel ycicrtpyde sqfyigcdrc
     3001 qnwyhgrcvg ilqseaelid eyvcpqcqst edamtvltpl tekdyeglkr vlrslqahkm
     3061 awpflepvdp ndapdyygvi kepmdlatme ervqrryyek ltefvadmtk ifdncryynp
     3121 sdspfyqcae vlesffvqkl kgfkasrshn nklqstas
//
LOCUS       XP_005256615            1268 aa            linear   PRI 20-MAR-2023
DEFINITION  protein flightless-1 homolog isoform X3 [Homo sapiens].
ACCESSION   XP_005256615
VERSION     XP_005256615.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005256558.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1268
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1268
                     /product="protein flightless-1 homolog isoform X3"
                     /calculated_mol_wt=144550
     Region          7..>373
                     /region_name="PLN00113"
                     /note="leucine-rich repeat receptor-like protein kinase;
                     Provisional"
                     /db_xref="CDD:215061"
     Region          10..34
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          35..57
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          58..80
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          83..105
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          106..128
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          129..152
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          153..175
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          176..199
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          200..224
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          225..247
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          248..270
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          271..293
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          294..318
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          319..339
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          342..355
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          491..603
                     /region_name="gelsolin_S1_like"
                     /note="Gelsolin sub-domain 1-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11290"
                     /db_xref="CDD:200446"
     Site            order(508..509,548,554..555,557..559,561..563,565..566,
                     577,579)
                     /site_type="other"
                     /note="putative actin binding interface [polypeptide
                     binding]"
                     /db_xref="CDD:200446"
     Region          618..705
                     /region_name="gelsolin_like"
                     /note="Tandemly repeated domains found in gelsolin,
                     severin, villin, and related proteins; cd11280"
                     /db_xref="CDD:200436"
     Region          722..836
                     /region_name="gelsolin_S3_like"
                     /note="Gelsolin sub-domain 3-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11292"
                     /db_xref="CDD:200448"
     Site            order(831,836)
                     /site_type="other"
                     /note="putative nucleotide binding site [chemical
                     binding]"
                     /db_xref="CDD:200448"
     Region          <973..1033
                     /region_name="gelsolin_like"
                     /note="Tandemly repeated domains found in gelsolin,
                     severin, villin, and related proteins; cd11280"
                     /db_xref="CDD:200436"
     Region          1052..1151
                     /region_name="gelsolin_S5_like"
                     /note="Gelsolin sub-domain 5-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11288"
                     /db_xref="CDD:200444"
     Site            1059
                     /site_type="other"
                     /note="putative nucleotide binding residue [chemical
                     binding]"
                     /db_xref="CDD:200444"
     Region          1162..1261
                     /region_name="gelsolin_S6_like"
                     /note="Gelsolin sub-domain 6-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11291"
                     /db_xref="CDD:200447"
     CDS             1..1268
                     /gene="FLII"
                     /gene_synonym="FLI; Fli1; FLIL"
                     /coded_by="XM_005256558.4:49..3855"
                     /db_xref="GeneID:2314"
                     /db_xref="HGNC:HGNC:3750"
                     /db_xref="MIM:600362"
ORIGIN      
        1 meatgvlpfv rgvdlsgndf kggyfpenvk amtslrwlkl nrtglcylpe elaalqkleh
       61 lsvshnnltt lhgelsslps lraivarans lknsgvpddi fklddlsvld lshnqltecp
      121 relenaknml vlnlshnsid tipnqlfinl tdllyldlse nrleslppqm rrlvhlqtlv
      181 lngnpllhaq lrqlpamtal qtlhlrstqr tqsnlptsle glsnladvdl scndltrvpe
      241 clytlpslrr lnlssnqite lslcidqwvh vetlnlsrnq ltslpsaick lsklkklyln
      301 snkldfdglp sgigkltnle efmaannnle lvpeslcrcp klrklvlnkn hlvtlpeaih
      361 flteievldv renpnlvmpp kpadraaewy nidfslqnql rlagaspatv aaaaagsgpk
      421 dpmarkmrlr rrkdsaqddq akqvlkgmsd vaqeknkkqe esadarapsg kvrrwdqgle
      481 kprldyseff tedvgqlpgl tiwqienfvp vlveeafhgk fyeadcyivl ktflddsgsl
      541 nweiyywigg eatldkkacs aihavnlrny lgaecrtvre emgdeseefl qvfdndisyi
      601 eggtasgfyt vedthyvtrm yrvygkknik lepvplkgts ldprfvflld rgldiyvwrg
      661 aqatlssttk arlfaekink nerkgkaeit llvqgqelpe fwealggeps eikkhvpedf
      721 wppqpklykv glglgylelp qinyklsveh kqrpkvelmp rmrllqslld trcvyildcw
      781 sdvfiwlgrk sprlvraaal klgqelcgml hrprhatvsr slegteaqvf kakfknwddv
      841 ltvdytrnae avlqspglsg kvkrdaekkd qmkadltalf lprqppmsla eaeqlmeewn
      901 edldgmegfv legkkfarlp eeefghfytq dcyvflcryw vpveyeeeek kedkeekaeg
      961 kegeeataea eekqpeedfq civyfwqgre asnmgwltft fslqkkfesl fpgklevvrm
     1021 tqqqenpkfl shfkrkfiih rgkrkavqga qqpslyqirt ngsalctrci qintdsslln
     1081 sefcfilkvp fesednqgiv yawvgrasdp deaklaedil ntmfdtsysk qvinegeepe
     1141 nffwvgigaq kpydddaeym khtrlfrcsn ekgyfavtek csdfcqddla dddimlldng
     1201 qevymwvgtq tsqveiklsl kacqvyiqhm rskeherprr lrlvrkgneq haftrcfhaw
     1261 safckala
//
LOCUS       XP_047300756            1053 aa            linear   PRI 20-MAR-2023
DEFINITION  ATPase family AAA domain-containing protein 2B isoform X10 [Homo
            sapiens].
ACCESSION   XP_047300756
VERSION     XP_047300756.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444800.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1053
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1053
                     /product="ATPase family AAA domain-containing protein 2B
                     isoform X10"
                     /calculated_mol_wt=118680
     Region          401..570
                     /region_name="RecA-like_Yta7-like"
                     /note="ATPase domain of Saccharomyces cerevisiae Yta7 and
                     similar ATPase domains; cd19517"
                     /db_xref="CDD:410925"
     Region          419..908
                     /region_name="SpoVK"
                     /note="AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell
                     wall/membrane/envelope biogenesis, Cell cycle control,
                     cell division, chromosome partitioning, Signal
                     transduction mechanisms]; COG0464"
                     /db_xref="CDD:223540"
     Site            order(446..449,452,505,549)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:410925"
     Region          960..>1044
                     /region_name="Bromo_AAA"
                     /note="Bromodomain; sub-family co-occurring with AAA
                     domains. Bromodomains are 110 amino acid long domains,
                     that are found in many chromatin associated proteins.
                     Bromodomains can interact specifically with acetylated
                     lysine. The structure(2DKW) in this...; cd05528"
                     /db_xref="CDD:99957"
     Site            order(987,992,995,1034,1038)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99957"
     CDS             1..1053
                     /gene="ATAD2B"
                     /coded_by="XM_047444800.1:354..3515"
                     /db_xref="GeneID:54454"
                     /db_xref="HGNC:HGNC:29230"
                     /db_xref="MIM:615347"
ORIGIN      
        1 mvntrksslr llgskspgpg pgpgagaepg atggsshfis srtrssktra ascpaakagg
       61 sggagvtlde arkvevdgsl sdshvsppak rtlkqpdsvc kdksksrstg qreewnlstg
      121 qarltsqpga tlpnghsgls lrshplrgek kgdgdlscin gdmevrkscr srknrfesvn
      181 qsllfdqlvn staeavlqem dninirrnrr sgeverlrmw tdtefenmdm ysrvkrrrks
      241 lrrnsygiqn hhevstegee eesqeedgdi eveeaegeen drpynlrqrk tvdryqappi
      301 vpahqkkren tlfdihrspa rrshirrkkh aihssdttss deerferrks ksmararnrc
      361 lpmnfraedl asgilrervk vgasladvdp mnidksvrfd sigglshhih alkemvvfpl
      421 lypeifekfk iqpprgclfy gppgtgktlv aralanecsq gdkkvaffmr kgadclskwv
      481 geserqlrll fdqaylmrps iiffdeidgl apvrssrqdq ihssivstll almdgldnrg
      541 eivvigatnr ldsidpalrr pgrfdreflf nlpdqkarkh ilqihtrdwn pklsdaflge
      601 laekcvgycg adikalctea alialrrryp qiyasshklq ldvssivlsa qdfyhamqni
      661 vpasqravms sghalspiir pllersfnni lavlqkvfph aeisqsdkke dietlileds
      721 edenalsife tnchsgspkk qsssaaihkp ylhftmspyh qptsyrprll lsgergsgqt
      781 shlapallht lerfsvhrld lpalysvsak tpeescaqif rearrtvpsi vymphigdww
      841 eavsetvrat fltllqdips fspifllsts etmyselpee vkcifriqye evlyiqrpie
      901 edrrkffqel ilnqasmapp rrkhaalcam evlplalpsp prqlseseks rmedqeentl
      961 relrlflrdv tkrlatdkrf nifskpvdie evsdylevik epmdlstvit kidkhnylta
     1021 kdflkdidli csnaleynpd kdpgehlaiw gkn
//
LOCUS       XP_005246834            1302 aa            linear   PRI 20-MAR-2023
DEFINITION  ras-associated and pleckstrin homology domains-containing protein 1
            isoform X2 [Homo sapiens].
ACCESSION   XP_005246834
VERSION     XP_005246834.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005246777.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1302
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1302
                     /product="ras-associated and pleckstrin homology
                     domains-containing protein 1 isoform X2"
                     /calculated_mol_wt=141049
     Region          319..408
                     /region_name="RA_MRL_Lpd"
                     /note="Ras-associating (RA) domain found in the adapter
                     protein lamellipodin (Lpd); cd16136"
                     /db_xref="CDD:340553"
     Site            order(326,331..338,354..357,372,390..391,394)
                     /site_type="other"
                     /note="RA-PH-RAP1 interaction site [polypeptide binding]"
                     /db_xref="CDD:340553"
     Region          444..566
                     /region_name="PH_APBB1IP"
                     /note="Amyloid beta (A4) Precursor protein-Binding, family
                     B, member 1 Interacting Protein pleckstrin homology (PH)
                     domain; cd01259"
                     /db_xref="CDD:269961"
     CDS             1..1302
                     /gene="RAPH1"
                     /gene_synonym="ALS2CR18; ALS2CR9; LPD; PREL-2; PREL2;
                     RalGDS/AF-6; RMO1"
                     /coded_by="XM_005246777.5:192..4100"
                     /db_xref="GeneID:65059"
                     /db_xref="HGNC:HGNC:14436"
                     /db_xref="MIM:609035"
ORIGIN      
        1 meqlsdeeid hgaeedsdke dqdldkmfga wlgeldkltq sldsdkpmep vkrsplrqet
       61 nmanfsyrfs iynlnealnq getvdldalm adlcsieqel ssigsgnskr qitetkatqk
      121 lpvsrhtlkh gtlkglssss nriakpshas yslddvtaql eqaslsmdea aqqsvledtk
      181 plvtnqhrrt asagtvsdae vhsisnsshs sitsaassmd sldidkvtrp qeldlthqgq
      241 pitehaislr csskqakrhi dfteeqaelt phsyldrets lllrniagkp shlltkeeqa
      301 aklkaekirv alekikeaqv kklvirvhms ddssktmmvd erqtvrqvld nlmdkshcgy
      361 sldwslvetv selqmerife dhenlvenll nwtrdsqnkl ifmeriekya lfknpqnyll
      421 gkketaemad rnkevlleec fcgssvtvpe iegvlwlkdd gkkswkkryf llrasgiyyv
      481 pkgkakvsrd lvcflqldhv nvyygqdyrn kykaptdycl vlkhpqiqkk sqyikylccd
      541 dvrtlhqwvn giriakygkq lymnyqealk rtesaydwts lssssiksgs ssssipesqs
      601 nhsnqsdsgv sdtqpaghvr sqsivssvfs eawkrgtqle esskarmesm nrpytslvpp
      661 lspqpkivtp ytasqpsppl pppppppppp pppppppppp lpsqsapsag saapmfvkys
      721 titrlqnasq hsgalfkppt ppvmqsqsvk pqilvppngv vppppppppp ptpgsamaql
      781 kpapcapslp qfsapppplk ihqvqhitqv apptpppppp ipaplppqap pkplvtipap
      841 tstktvapvv tqaapptptp pvppakkqpa fpasyippsp ptppvpvppp tlpkqqsfca
      901 kpppsplspv psvvkqiasq fpppptppam esqplkpvpa nvapqsppav kakpkwqpss
      961 ipvpspdfpp pppesslvfp ppppspvpap pppppptasp tpdksgspgk ktsktsspgg
     1021 kkppptpqrn ssiksssgae hpepkrpsvd slvskftppa esgspsketl pppaappkpg
     1081 klnlsgvnlp gvlqqgcvsa kapvlsgrgk dsvvefpspp sdsdfppppp etelplppie
     1141 ipavfsgnts pkvavvnpqp qqwskmsvkk appptrpkrn dstrltqaei seqptmatvv
     1201 pqvptspkss lsvqpgflad lnrtlqrksi trhgslssrm sraeptatmd dmalpppppe
     1261 llsdqqkagy ggshisgyat lrrgpppapp krdqntklsr dw
//
LOCUS       XP_047295968             692 aa            linear   PRI 20-MAR-2023
DEFINITION  disks large-associated protein 4 isoform X3 [Homo sapiens].
ACCESSION   XP_047295968
VERSION     XP_047295968.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440012.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..692
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..692
                     /product="disks large-associated protein 4 isoform X3"
                     /calculated_mol_wt=74655
     CDS             1..692
                     /gene="DLGAP4"
                     /gene_synonym="DAP-4; DAP4; DLP4; SAPAP-4; SAPAP4"
                     /coded_by="XM_047440012.1:478..2556"
                     /db_xref="GeneID:22839"
                     /db_xref="HGNC:HGNC:24476"
                     /db_xref="MIM:616191"
ORIGIN      
        1 mkglgdsrpr hlsdsldpph eplfagtdrn pyllspteaf arearfpgqn tlpgdglfpl
       61 nnqlpppsst fprihynshf evpeespfps haqatkinrl panlldqfek qlpihrdgfs
      121 tlqfprgeak argespgrir hlvhsvqrlf ftkapslegt agkvggngsk kggmedgkgr
      181 rakskeraka gepkrrsrsn isgwwssddn ldgeagafrs sgpasglmtl grqaersqpr
      241 yfmhayntis ghmlkttknn tteltapppp pappatcpsl gvgtdtnyvk rgswstltls
      301 hahevcqkts atldksllks kschqglayh ylqvpgggge wsttllspre tdaaaegpip
      361 crrmrsgsyi kamgdedsde sggspkpspk taarrqsylr atqqslgeqs nprrsldrld
      421 svdmllpskc psweedytpv sdslndssci sqifgqasli pqlfgheqqv reaelsdqye
      481 aacesacsea estaaetldl plpsyfrsrs hsylraiqag csqeedsvsl qslspppstg
      541 slsnsrtlps ssclvaykkt pppvpprtts kpfisvtvqs stesaqdtyl dsqdhksevt
      601 sqsglsnssd sldsstrpps vtrggvapap eapepppkha alkseqgtlt sseshpeaap
      661 krklssigiq kqrplsqyvl ptghrlgypg cq
//
LOCUS       XP_011529919             276 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and SOCS box protein 5 isoform X2 [Homo sapiens].
ACCESSION   XP_011529919
VERSION     XP_011529919.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011531617.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..276
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..276
                     /product="ankyrin repeat and SOCS box protein 5 isoform
                     X2"
                     /calculated_mol_wt=29952
     Site            order(18,22..23,26..28,30..31,35,38,47,49,51,55..56,
                     59..61,63..64,68,71,80,82,84,88..89,92..94,96..97,101,104)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          18..47
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          20..>230
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          49..80
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          82..107
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          117..145
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(120..121,124..126,128..129,133,136,145,147,149,
                     153..154,157..159,161..162,166,169,177,179,181,185..186,
                     189..191,193..194,198,201,210)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          147..177
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          179..210
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          235..276
                     /region_name="SOCS"
                     /note="SOCS (suppressors of cytokine signaling) box. The
                     SOCS box is found in the C-terminal region of CIS/SOCS
                     family proteins (in combination with a SH2 domain), ASBs
                     (ankyrin repeat-containing proteins with a SOCS box), SSBs
                     (SPRY domain-containing proteins...; cl02533"
                     /db_xref="CDD:445817"
     Site            order(236..241,247,257,263)
                     /site_type="active"
                     /note="elongin B/C interaction [active]"
                     /db_xref="CDD:239641"
     CDS             1..276
                     /gene="ASB5"
                     /gene_synonym="ASB-5"
                     /coded_by="XM_011531617.4:196..1026"
                     /db_xref="GeneID:140458"
                     /db_xref="HGNC:HGNC:17180"
                     /db_xref="MIM:615050"
ORIGIN      
        1 mplcnggnla vtgswadrsp lheaasqgrl lalrtllsqg ynvnavtldh vtplheaclg
       61 dhvacartll eaganvnait idgvtplfna csqgspscae llleygakaq lesclpspth
      121 eaaskghhec ldiliswgid vdqeiphlgt plyvacmsqq fhciwkllya gadvqkgkyw
      181 dtplhaaaqq ssteivnlll efgadinakn tellrpidva tsssmveril lqheatpssl
      241 yqlcrlcirs yigkprlhli pqlqlptllk nflqyr
//
LOCUS       XP_047305757             991 aa            linear   PRI 20-MAR-2023
DEFINITION  evC complex member EVC isoform X2 [Homo sapiens].
ACCESSION   XP_047305757
VERSION     XP_047305757.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449801.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..991
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..991
                     /product="evC complex member EVC isoform X2"
                     /calculated_mol_wt=111773
     CDS             1..991
                     /gene="EVC"
                     /gene_synonym="DWF-1; EVC1; EVCL"
                     /coded_by="XM_047449801.1:181..3156"
                     /db_xref="GeneID:2121"
                     /db_xref="HGNC:HGNC:3497"
                     /db_xref="MIM:604831"
ORIGIN      
        1 marggaacks darlllgrda lrpapallap avllgaalgl glglwlgcra grqrtrhqkd
       61 dtqnllknle snaqtpsetg spsrrrkrev qmskdkeavd eceppsnsni tafalkakvi
      121 ypinqkfrpl adgssnpslh enlkqavlph qpveaspsss lgslsqgekd dcsssssvhs
      181 atsddrflsr tflrvnafpe vlacesvdvd lciyslhlkd llhldtalrq ekhmmfiqif
      241 kmclldllpk kksddelyqk ilskqekdle elekglqvkl sntemsgagd seyitladve
      301 kkereyseql idnmeafwkq maniqhflvd qfkcssskar qlmmtlterm iaaegllcds
      361 qelqaldale rtmgrahmak vieflklqvq eetrcrlaai shglellage gklsgrqkee
      421 lltqqhkafw qeaerfsref vqrgkdlvta slahqvegta kltlaqeeeq rsflaeaqpt
      481 adpekfleaf hevlerqrlm qcdleeeenv rateavvalc qelyfstvdt fqkfvdalfl
      541 qtlpgmtglp peecdylrqe vqenaawqlg ksnrfrrqqw klfqelleqd qqvwmeecal
      601 ssvlqthlre dhegtirgvl grlggltees trcvlqghdl llrsalrrla lrgnalatlt
      661 qmrlsgkkhl lqelreqral eqgssqclde hqwqllrale arvleeasrl eeeaqqtrlq
      721 lqqrllaeaq evgqllqqhm ecaigqallv harnaatksr akdrddfkrt lmeaavesvy
      781 vtsagvsrlv qayyqqigri medheerklq hlktlqgerm enyklrkkqe lsnpssgsrt
      841 aggahetsqa vhqrmlsqqk rflaqfpvhq qmrlhaqqqq agvmdlleaq letqlqeaeq
      901 nfiselaala rvplaeskll pakrgllekp lrtkrkkplp qergdlgvpn nedlasgdqt
      961 sgslskrlsq qeseagdsgn skkmlkrrsn l
//
LOCUS       XP_016864852             334 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM153A isoform X5 [Homo sapiens].
ACCESSION   XP_016864852
VERSION     XP_016864852.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009363.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..334
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..334
                     /product="protein FAM153A isoform X5"
                     /calculated_mol_wt=37274
     Region          162..304
                     /region_name="FAM153"
                     /note="FAM153 family; pfam15722"
                     /db_xref="CDD:434884"
     CDS             1..334
                     /gene="FAM153A"
                     /gene_synonym="NY-REN-7"
                     /coded_by="XM_017009363.2:250..1254"
                     /db_xref="GeneID:285596"
                     /db_xref="HGNC:HGNC:29940"
ORIGIN      
        1 mnmqsdyded lvqeassedv lgvhmvdkdt erdiemkrql rrlrelhlys twkkyqeamk
       61 tslgvpqcer degslgkplc ppeilsetlp gsvkkrvcfp sedhleefia ehlpeasnqs
      121 lltvahadag tqtngdledl eehgpgqtvs eeatevhtme gdpdtlaefl irdvlqelss
      181 yngeeedpee vktslgvpqr gdledleehv pgqtvseeat gvhmmqvdpa tlaksdledl
      241 eehvpeqtvs eeatgvhmmq vdpatlakql edstitgshq qmsaspssap aeeatektkv
      301 eeevktrkpk kktrkpskks rwnvlkcwdi fnif
//
LOCUS       XP_016865444             370 aa            linear   PRI 20-MAR-2023
DEFINITION  cotranscriptional regulator FAM172A isoform X8 [Homo sapiens].
ACCESSION   XP_016865444
VERSION     XP_016865444.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009955.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..370
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..370
                     /product="cotranscriptional regulator FAM172A isoform X8"
                     /calculated_mol_wt=42720
     Region          55..>271
                     /region_name="Arb2"
                     /note="Arb2 domain; pfam09757"
                     /db_xref="CDD:401634"
     CDS             1..370
                     /gene="FAM172A"
                     /gene_synonym="C5orf21; Toupee"
                     /coded_by="XM_017009955.2:1051..2163"
                     /db_xref="GeneID:83989"
                     /db_xref="HGNC:HGNC:25365"
ORIGIN      
        1 mkkdeppldf pdtlegfeya fnekgqlrhi ktgepfvfny redlhrwnqk ryealgeiit
       61 kyvyellekd cnlkkvsipv datesepksf ifmsedaltn pqklmvlihg sgvvragqwa
      121 rrliinedld sgtqipfikr avaegygviv lnpnenyiev ekpkihvqss sdssdepaek
      181 rerkdkvske tkkrrdfyek yrnpqrekem mqlyirengs peehaiyvwd hfiaqaaaen
      241 vffvahsygg lafvelmiqr eadvknkvta valtdsvhnv whqeagktir ewmrenccnw
      301 vsssepldts vesmlpdcpr vsagtdrhel tswksfpsif kffteaseak tsslkpavtr
      361 rshrikheel
//
LOCUS       XP_047274749            1900 aa            linear   PRI 20-MAR-2023
DEFINITION  afadin isoform X6 [Homo sapiens].
ACCESSION   XP_047274749
VERSION     XP_047274749.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418793.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 6% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1900
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1900
                     /product="afadin isoform X6"
                     /calculated_mol_wt=214839
     Region          20..132
                     /region_name="RA1_Afadin"
                     /note="Ras-associating (RA) domain 1 found in Afadin;
                     cd01782"
                     /db_xref="CDD:340480"
     Site            order(44,58,78)
                     /site_type="other"
                     /note="RA - Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:340480"
     Region          248..348
                     /region_name="RA2_Afadin"
                     /note="Ras-associating (RA) domain 2 found in Afadin;
                     cd01781"
                     /db_xref="CDD:340479"
     Region          385..503
                     /region_name="FHA_AFDN"
                     /note="forkhead associated (FHA) domain found in afadin
                     and similar proteins; cd22711"
                     /db_xref="CDD:438763"
     Region          612..933
                     /region_name="Myo5p-like_CBD_afadin"
                     /note="cargo binding domain of myosin 5-like of afadin;
                     cd15471"
                     /db_xref="CDD:271255"
     Region          1009..1091
                     /region_name="PDZ"
                     /note="PDZ domain (Also known as DHR or GLGF); pfam00595"
                     /db_xref="CDD:395476"
     Site            order(1018..1021,1023,1075..1076,1079..1080)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          <1463..1681
                     /region_name="DUF4670"
                     /note="Domain of unknown function (DUF4670); pfam15709"
                     /db_xref="CDD:434873"
     CDS             1..1900
                     /gene="AFDN"
                     /gene_synonym="AF6; l-afadin; MLL-AF6; MLLT4"
                     /coded_by="XM_047418793.1:570..6272"
                     /db_xref="GeneID:4301"
                     /db_xref="HGNC:HGNC:7137"
                     /db_xref="MIM:159559"
ORIGIN      
        1 msaggrdeer rkladiihhw nanrldlfei sqptedlefh gvmrfyfqdk aagnfatkci
       61 rvsstattqd vietlaekfr pdmrmlsspk yslyevhvsg eerrldidek plvvqlnwnk
      121 ddregrfvlk nendaippkk aqsngpekqe kegviqnfkr tlskkekkek kkrekealrq
      181 asdkddrpfq gedvensrla aevykdmpet sftrtisnpe vvmkrrrqqk lekrmqefrs
      241 sdgrpdsggt lriyadslkp nipyktills ttdpadfava ealekyglek enpkdyciar
      301 vmlppgaqhs dekgakeiil dddecplqif rewpsdkgil vfqlkrrppd hipkktkkhl
      361 egktpkgker adgsgygstl ppeklpylve lspgrrnhfa yynyhtyedg sdsrdkpkly
      421 rlqlsvtevg teklddnsiq lfgpgiqphh cdltnmdgvv tvtprsmdae tyvegqrise
      481 ttmlqsgmkv qfgashvfkf vdpsqdhala krsvdgglmv kgprhkpgiv qettfdlggd
      541 ihsgtalpts ksttrldsdr vssasstaer gmvkpmirve qqpdyrrqes rtqdasgpel
      601 ilpasiefre ssedsflsai inytnsstvh fklsptyvly macryvlsnq yrpdispter
      661 thkviavvnk mvsmmegviq kqkniagala fwmanasell nfikqdrdls ritldaqdvl
      721 ahlvqmafky lvhclqseln nympaflddp eenslqrpki ddvlhtltga msllrrcrvn
      781 aaltiqlfsq lfhfinmwlf nrlvtdpdsg lcshywgaii rqqlghieaw aekqglelaa
      841 dchlsrivqa ttlltmdkya pddipninst cfklnslqlq allqnyhcap depfiptdli
      901 envvtvaent adelarsdgr evqleedpdl qlpfllpedg yscdvvrnip nglqefldpl
      961 cqrgfcrlip htrspgtwti yfegadyesh llrentelaq plrkepeiit vtlkkqngmg
     1021 lsivaakgag qdklgiyvks vvkggaadvd grlaagdqll svdgrslvgl sqeraaelmt
     1081 rtssvvtlev akqgaiyhgl atllnqpspm mqrisdrrgs gkprpksegf elynnstqng
     1141 spespqlpwa eysepkklpg ddrlmknrad hrsspnvanq ppspggksay asgttakits
     1201 vstgnlctee qtppprpeay piptqtytre yftfpasksq drmappqnqw pnyeekphmh
     1261 tdsnhssiai qrvtrsqeel redkayqler hrieaamdrk sdsdmwinqs ssldsstssq
     1321 ehlnhssksv tpastltksg pgrwktpaai patpvavsqp irtdlppppp pppvhyagdf
     1381 dgmsmdlplp pppsanqigl psaqvaaaer rkreehqrwy ekekarleee rerkrreqer
     1441 klgqmrtqsl npapfsplta qqmkpekpst lqrpqetvir elqpqqqprt ierrdlqyit
     1501 vskeelssgd slspdpwkrd akeklekqqq mhivdmlske iqelqskpdr saeesdrlrk
     1561 lmlewqfqkr lqeskqkded deeeedddvd tmlimqrlea errarlqdee rrrqqqleem
     1621 rkreaedrar qeeerrrqee ertkrdaeek rrqeegyysr leaerrrqhd eaarrllepe
     1681 apglcrpplp rdyeppspsp apgapppppq rnasylktqv lspdslftak fvayneeeee
     1741 edcslagqdk ysstrkshgd llpaplkprp ppcqprpasd gvflsnsfqp psakanstah
     1801 kkgqplpppk ksssyhpshc kgpnsypgst gaavgahdac rdakekrsks qdadspgssg
     1861 apenltfker qrlfsqgqdv snkvkasrkl telenelntk
//
LOCUS       XP_005251095            2704 aa            linear   PRI 20-MAR-2023
DEFINITION  thyroglobulin isoform X5 [Homo sapiens].
ACCESSION   XP_005251095
VERSION     XP_005251095.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005251038.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2704
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..2704
                     /product="thyroglobulin isoform X5"
                     /calculated_mol_wt=297806
     Region          33..92
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cd00191"
                     /db_xref="CDD:238114"
     Site            order(38,47,65,69)
                     /site_type="active"
                     /note="protease interaction site [active]"
                     /db_xref="CDD:238114"
     Region          95..160
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cd00191"
                     /db_xref="CDD:238114"
     Site            order(100,115,133,137)
                     /site_type="active"
                     /note="protease interaction site [active]"
                     /db_xref="CDD:238114"
     Region          300..358
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cd00191"
                     /db_xref="CDD:238114"
     Site            order(305,314,332,335)
                     /site_type="active"
                     /note="protease interaction site [active]"
                     /db_xref="CDD:238114"
     Region          599..658
                     /region_name="Thyroglobulin_1"
                     /note="Thyroglobulin type-1 repeat; pfam00086"
                     /db_xref="CDD:425459"
     Region          662..724
                     /region_name="Thyroglobulin_1"
                     /note="Thyroglobulin type-1 repeat; pfam00086"
                     /db_xref="CDD:425459"
     Site            order(666,682,700,702)
                     /site_type="active"
                     /note="protease interaction site [active]"
                     /db_xref="CDD:238114"
     Region          729..>776
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cl00150"
                     /db_xref="CDD:444714"
     Region          <892..922
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cl00150"
                     /db_xref="CDD:444714"
     Region          1004..1073
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cd00191"
                     /db_xref="CDD:238114"
     Site            order(1009,1026,1044,1048)
                     /site_type="active"
                     /note="protease interaction site [active]"
                     /db_xref="CDD:238114"
     Region          1077..1145
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cd00191"
                     /db_xref="CDD:238114"
     Site            order(1081,1103,1119,1123)
                     /site_type="active"
                     /note="protease interaction site [active]"
                     /db_xref="CDD:238114"
     Region          1149..1210
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cd00191"
                     /db_xref="CDD:238114"
     Region          1465..1510
                     /region_name="Ephrin_rec_like"
                     /note="Putative ephrin-receptor like; pfam07699"
                     /db_xref="CDD:429604"
     Region          1520..1567
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats; smart00211"
                     /db_xref="CDD:214561"
     Region          2133..2654
                     /region_name="COesterase"
                     /note="Carboxylesterase family; pfam00135"
                     /db_xref="CDD:395084"
     Site            order(2247..2249,2321..2323,2328,2478,2482..2483,2516,
                     2556,2564)
                     /site_type="other"
                     /note="substrate binding pocket [chemical binding]"
                     /db_xref="CDD:238191"
     Site            order(2322,2450,2555)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:238191"
     CDS             1..2704
                     /gene="TG"
                     /gene_synonym="AITD3; TGN"
                     /coded_by="XM_005251038.5:44..8158"
                     /db_xref="GeneID:7038"
                     /db_xref="HGNC:HGNC:11764"
                     /db_xref="MIM:188450"
ORIGIN      
        1 malvleiftl lasicwvsan ifeyqvdaqp lrpcelqret aflkqadyvp qcaedgsfqt
       61 vqcqndgrsc wcvgangsev lgsrqpgrpv aclsfcqlqk qqillsgyin stdtsylpqc
      121 qdsgdyapvq cdvqqvqcwc vdaegmevyg trqlgrpkrc prsceirnrr llhgvgdksp
      181 pqcsaegefm pvqckfvntt dmmifdlvhs ynrfpdafvt fssfqrrfpe vsgychcads
      241 qgrelaetgl ellldeiydt ifagldlpst ftettlyril qrrflavqsv isgrfrcptk
      301 ceverftats fghpyvpscr rngdyqavqc qtegpcwcvd aqgkemhgtr qqgeppscae
      361 gqscaserqq alsrlyfgts gyfsqhdlfs spekrwaspr varfatscpp tikelfvdsg
      421 llrpmvegqs qqfsvsenll keairaifps rglarlalqf ttnpkrlqqn lfggkflvnv
      481 gqfnlsgalg trgtfnfsqf fqqlglasfl nggrqedlak plsvgldsns stgtpeaakk
      541 dgtmnkptvg sfgfeinlqe nqnalkflas llelpefllf lqhaisvped vardlgdvme
      601 tvlssqtceq tperlfvpsc ttegsyedvq cfsgecwcvn swgkelpgsr vrggqprcpt
      661 dcekqrarmq slmgsqpags tlfvpactse ghflpvqcfn secycvdaeg qaipgtrsai
      721 gkpkkcptpc qlqseqaflr tvqallsnss mlptlsdtyi pqcstdgqwr qvqcngppeq
      781 vfelyqrwea qnkgqdltpa kllvkimsyr eaasgnfslf iqslyeagqq dvfpvlsqyp
      841 slqdvplaal egkrpqpren illepylfwq ilngqlsqyp gsysdfstpl ahfdlrncwc
      901 vdeagqeleg mrsepsklpt cpgsceeakl rvlqfirete eivsasnssr fplgesflva
      961 kgirlrnedl glpplfppre afaeqflrgs dyairlaaqs tlsfyqrrrf spddsagasa
     1021 llrsgpympq cdafgswepv qchagtghcw cvdekggfip gsltarslqi pqcpttceks
     1081 rtsgllsswk qarsqenpsp kdlfvpacle tgeyarlqas gagtwcvdpa sgeelrpgss
     1141 ssaqcpslcn vlksgvlsrr vspgyvpacr aedggfspvq cdqaqgscwc vmdsgeevpg
     1201 trvtggqpac esprcplpfn asevvggtil cetisgptgs amqqcqllcr qgswsvfppg
     1261 plicslesgr wesqlpqpra cqrpqlwqti qtqghfqlql ppgkmcsady adllqtfqvf
     1321 ildeltargf cqiqvktfgt lvsipvcnns svqvgcltre rlgvnvtwks rledipvasl
     1381 pdlhdieral vgkdllgrft dliqsgsfql hldsktfpae tirflqgdhf gtsprtwfgc
     1441 segfyqvlts easqdglgcv kcpegsysqd eecipcpvgf yqeqagslac vpcpvgrtti
     1501 sagafsqthc vtdcqrneag lqcdqngqyr asqkdrgsgk afcvdgegrr lpwweteapl
     1561 edsqclmmqk fekvpeskvi fdanapvavr skvpdsefpv mqcltdcted eacsfftvst
     1621 tepeiscdfy awtsdnvacm tsdqkrdalg nskatsfgsl rcqvkvrshg qdspavylkk
     1681 gaiicgllss psvllcnvkd wmdpseawan atcpgvtydq eshqvilrlg dqefiksltp
     1741 legtqdtftn fqqvylwkds dmgsrpesmg crkdtvprpa spteagltte lfspvdlnqv
     1801 ivngnqslss qkhwlfkhlf saqqanlwcl srcvqehsfc qlaeitesas lyftctlype
     1861 aqvcddimes naqgcrlilp qmpkalfrkk viledkvknf ytrlpfqklm gisirnkvpm
     1921 seksisngff ecerrcdadp cctgfgflnv sqlkggevtc ltlnslgiqm cseenggawr
     1981 ildcgspdie vhtypfgwyq kpiaqnnaps fcplvvlpsl tekvsldswq slalssvvvd
     2041 psirhfdvah vstaatsnfs avrdlclsec sqheaclitt lqtqpgavrc mfyadtqsct
     2101 hslqgqncrl llreeathiy rkpgisllsy easvpsvpis thgrllgrsq aiqvgtswkq
     2161 vdqflgvpya applaerrfq apeplnwtgs wdaskprasc wqpgtrtsts pgvsedclyl
     2221 nvfipqnvap nasvlvffhn tmdreesegw paidgsflaa vgnlivvtas yrvgvfgfls
     2281 sgsgevsgnw glldqvaalt wvqthirgfg gdprrvslaa drggadvasi hlltaratns
     2341 qlfrravlmg gsalspaavi sheraqqqai alakevscpm sssqevvscl rqkpanvlnd
     2401 aqtkllavsg pfhywgpvid ghflreppar alkrslwvev dlligssqdd glinrakavk
     2461 qfeesrgrts sktafyqalq nslggedsda rveaaatwyy slehstddya sfsralenat
     2521 rdyfiicpii dmasawakra rgnvfmyhap enyghgslel ladvqfalgl pfypayegqf
     2581 sleekslslk imqyfshfir sgnpnypyef srkvptfatp wpdfvpragg enykefsell
     2641 pnrqglkkad csfwskyiss lktsadgakg gqsaeseeee ltagsglred llslqepgsk
     2701 tysk
//
LOCUS       XP_054185578             588 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 676 isoform X2 [Homo sapiens].
ACCESSION   XP_054185578
VERSION     XP_054185578.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329603.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003315965.1) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..588
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p12"
     Protein         1..588
                     /product="zinc finger protein 676 isoform X2"
                     /calculated_mol_wt=67493
     CDS             1..588
                     /gene="ZNF676"
                     /coded_by="XM_054329603.1:618..2384"
                     /db_xref="GeneID:163223"
                     /db_xref="HGNC:HGNC:20429"
ORIGIN      
        1 mlenyrnlvf lgiaafkpdl iifleqgkep wnmkrhemve eppvicshfs qefwpeqgie
       61 dsfqkmilrr ydkcghenlh lkisctnvde cnvhkegynk lnqsltttqs kvfqcgkyan
      121 vfhkcsnsnr hkirhtgekg lkckeyvrsf cmlshlsqhe riytrensyk ceengkafnw
      181 sstltyyksi htgekpykce ecgkafskfs iltkhkviht gekpykceec gkafnrssil
      241 tkhkiihtge kpykceecgk gfssvstlnt hkaihaeekp ykceecgkas nsssklmehk
      301 rihtgekpyk ceecgkafsw sssltehkri hagekpykce ecgkafnrss iltkhkiiht
      361 gekpykcegc gkafskvstl nthkaihaee kpykceecgk asnsssklme hkrihtgekp
      421 ykceecgkaf swsssltehk rihagekpyk ceecgkaftw sssftkhkri haaekpykce
      481 ecgkgfstfs iltkhkiiht gekrykceec gkafswssil tehkiihtge kpykceecgk
      541 afsrsssltr hkrihtgekp ykceecgkaf kssstvsyhk kihtgenp
//
LOCUS       XP_054187512             185 aa            linear   PRI 20-MAR-2023
DEFINITION  natural cytotoxicity triggering receptor 1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054187512
VERSION     XP_054187512.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331537.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571060.1) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..185
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..185
                     /product="natural cytotoxicity triggering receptor 1
                     isoform X3"
                     /calculated_mol_wt=20844
     CDS             1..185
                     /gene="NCR1"
                     /gene_synonym="CD335; LY94; NK-p46; NKP46"
                     /coded_by="XM_054331537.1:36..593"
                     /db_xref="GeneID:9437"
                     /db_xref="HGNC:HGNC:6731"
                     /db_xref="MIM:604530"
ORIGIN      
        1 mydtptlsvh pgpevisgek vtfycrldta tsmflllkeg rsshvqrgyg kvqaefplgp
       61 vttahrgtyr cfgsynnhaw sfpsepvkll vtgdientsl apedptfpad twgtylltte
      121 tglqkdhalw dhtaqnllrm glaflvlval vwflvedwls rkrtrerasr astwegrrrl
      181 ntqtl
//
LOCUS       XP_054188824             514 aa            linear   PRI 20-MAR-2023
DEFINITION  myocyte-specific enhancer factor 2D isoform X3 [Homo sapiens].
ACCESSION   XP_054188824
VERSION     XP_054188824.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332849.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791758) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..514
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22-23.1"
     Protein         1..514
                     /product="myocyte-specific enhancer factor 2D isoform X3"
                     /calculated_mol_wt=54983
     CDS             1..514
                     /gene="MEF2D"
                     /coded_by="XM_054332849.1:505..2049"
                     /db_xref="GeneID:4209"
                     /db_xref="HGNC:HGNC:6997"
                     /db_xref="MIM:600663"
ORIGIN      
        1 mgrkkiqiqr itdernrqvt ftkrkfglmk kayelsvlcd ceialiifnh snklfqyast
       61 dmdkvllkyt eynephesrt nadiietlrk kgfngcdspe pdgedsleqs plledkyrra
      121 seeldglfrr ygstvpapnf ampvtvpvsn qsslqfsnps gslvtpslvt ssltdprlls
      181 pqqpalqrns vspglpqrpa sagamlggdl nsangacpsp vgngyvsara spgllpvang
      241 nslnkvipak sppppthstq lgapsrkpdl rvitsqagkg lmhhlnnaqr lgvsqsthsl
      301 ttpvvsvatp sllsqglpfs smptayntdy qltsaelssl pafsspggls lgnvtawqqp
      361 qqpqqpqqpq ppqqqppqpq qpqpqqpqqp qqppqqqshl vpvslsnlip gsplphvgaa
      421 ltvtthphis iksepvspsr erspappppa vfpaarpepg dglsspaggs yetgdrddgr
      481 gdfgptlgll rpapepeaeg savkrmrldt wtlk
//
LOCUS       XP_054188688            1028 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger SWIM domain-containing protein 4 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054188688
VERSION     XP_054188688.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332713.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_021160022.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1028
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13-13.12"
     Protein         1..1028
                     /product="zinc finger SWIM domain-containing protein 4
                     isoform X6"
                     /calculated_mol_wt=112062
     CDS             1..1028
                     /gene="ZSWIM4"
                     /coded_by="XM_054332713.1:207..3293"
                     /db_xref="GeneID:65249"
                     /db_xref="HGNC:HGNC:25704"
ORIGIN      
        1 meppaakrsr gcpagpeerd agagaargrg rpealldlsa krvaeswafe qveerfsrvp
       61 epvqkrivfw sfprsereic mysslgyppp egehdarvpf trglhllqsg avdrvlqvgf
      121 hlsgnirepg spgeperlyh vsisfdrcki tsvscgcdnr dlfycahvva lslyrirhah
      181 qvelrlpise tlsqmnrdql qkfvqylisa hhtevlptaq rladeilllg seinlvngap
      241 dptagagied ancwhldeeq iqeqvkqlls nggyygasqq lrsmfskvre mlrmrdsnga
      301 rmlilmteqf lqdtrlalwr qqgagmtdkc rqlwdelgal wvcvvlsphc kpeeragwlq
      361 llsrwdkldv cpleegnysf dgpslqptma papgseeeee vaatsprhtv fgrallagel
      421 hwndaylqri lasdsygpsl tgsvggdkpt fdpqgrplwl gepfptacar vdtlrahgyp
      481 rqalrlasai intlrlqqrh qlesykqqkk etwagvwals plfppaellq kgstcitnte
      541 gwvghpldpi gclcrallea crleeetltl ypdsgpekrk vayqhvpvpg spgesylvla
      601 levallglgq qralpeglya qdkvvrneeq llalleevel derlvqvlrk qaglllegda
      661 ddserndlaa egdgalagql chrdwpaspd eyhaelvfli htsgggyhrg sdghhtrhsa
      721 ataaghiaeg galglrphpg lavrdegpse lrlacpdpvr eeplglrggl pdragrggrr
      781 pgprpplhcg plygapraaa pglqagdagp gaaqhrlqpg qppcrqrral gllsqplpgp
      841 aralchrpph hsqhplcpna vrysapldsl garsgplrgt pgrqatgcrp gaalpapgrg
      901 shrlhhhqpl aphahqpaal wgfhripgqg pgdlpagarr appvltvlge pqtdlqgqee
      961 thafgagafw lrdsgvrgsg dpprpcvphp cspirptwhf siiksgkepg wrwgqgeqhp
     1021 atcvpgsl
//
LOCUS       XP_054191906            1250 aa            linear   PRI 20-MAR-2023
DEFINITION  nephrocystin-4 isoform X10 [Homo sapiens].
ACCESSION   XP_054191906
VERSION     XP_054191906.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335931.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1250
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1250
                     /product="nephrocystin-4 isoform X10"
                     /calculated_mol_wt=137095
     CDS             1..1250
                     /gene="NPHP4"
                     /gene_synonym="POC10; SLSN4"
                     /coded_by="XM_054335931.1:1033..4785"
                     /db_xref="GeneID:261734"
                     /db_xref="HGNC:HGNC:19104"
                     /db_xref="MIM:607215"
ORIGIN      
        1 mtliencslq ytlkphpale pafhllpenl lvsglqqipg llpahgesgd alrkprlqkp
       61 itghlddlff tlypslekfe eellelhvqd hfqegcgpld ggaleilerr lrvgvhnglg
      121 fvqrpqvvvl vpemdvaltr sasfsrkvvs ssktssgsqa lvlrsrlrlp emvghpafav
      181 ifqleyvfss pagvdgnaas vtslsnlacm hmvrwavwnp lleadsgrvt lplqggiqpn
      241 pshclvykvp sasmsseevk qvesgtlrfq fslgseehld aptepvsgpk verrpsrkpp
      301 tspssppapv prvlaapqns pvgpglsisq laasprsptq hclarptsql phgsqaspaq
      361 aqefpleagi shleadlsqt slvletsiae qlqelpftpl hapivvgtqt rssagqpsra
      421 smvllqssgf peildankqp aeavsatepv tfnpqkeesd clqsnemvlq flafsrvaqd
      481 crgtswpktv yftfqfyrfp pattprlqlv qldeagqpss galthilvpv srdgtfdags
      541 pgfqlrymvg pgflkpgerr cfarylavqt lqidvwdgds llligsaavq mkhllrqgrp
      601 avqashelev vateyeqdnm vvsgdmlgfg rvkpigvhsv vkgrlhltla nvghpceqkv
      661 rgcstlppsr srvisndgas rfsggslltt gssrrkhvvq aqkladvdse laamllthar
      721 qgkgpqdvsr esdatrrrkl ermrsvrlqe aggdlgrrgt svlaqqsvrt qhlrdlqvia
      781 ayrertkaes iasllslait tehtlhatlg vaeffefvlk nphntqhtvt veidnpelsv
      841 ivdsqewrdf kgaaglhtpv eedmfhlrgs lapqlylrph etahvpfkfq sfsagqlamv
      901 qaspglsnek gmdavspwks savptkhakv lfrasggkpi avlcltvelq phvvdqvfrf
      961 yhpelsflkk airlppwhtf pgapvgmlge dppvhvrcsd pnvicetqnv gpgeprdifl
     1021 kvasgpspei kdffviiysd rwlatptqtw qvylhslqrv dvscvagqlt rlslvlrgtq
     1081 tvrkvrafts hpqelktdpk gvfvlpprgv qdlhvgvrpl ragsrfvhln lvdvdchqlv
     1141 aswlvclccr qpliskafei mlaagegkgv nkritytnpy psrrtfhlhs dhpellrfre
     1201 dsfqvggget ytiglqfaps qrvgeeeili yindhedkne eafcvkviyq
//
LOCUS       XP_054232937             993 aa            linear   PRI 20-MAR-2023
DEFINITION  ribosome quality control complex subunit NEMF isoform X1 [Homo
            sapiens].
ACCESSION   XP_054232937
VERSION     XP_054232937.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376962.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..993
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..993
                     /product="ribosome quality control complex subunit NEMF
                     isoform X1"
                     /calculated_mol_wt=114009
     CDS             1..993
                     /gene="NEMF"
                     /gene_synonym="IDDSAPN; NY-CO-1; RQC2; SDCCAG1"
                     /coded_by="XM_054376962.1:36..3017"
                     /db_xref="GeneID:9147"
                     /db_xref="HGNC:HGNC:10663"
                     /db_xref="MIM:608378"
ORIGIN      
        1 mksrfstidl ravlaelnas llgmrvnnvy dvdnktylir lqkpdfkatl llesgiriht
       61 tefewpknmm pssfamkcrk hlksrrlvsa kqlgvdrivd fqfgsdeaay hliielydrg
      121 nivltdyeyv ilnilrfrtd eaddvkfavr erypldhara aeplltlerl teivasapkg
      181 ellkrvlnpl lpygpalieh cllengfsgn vkvdekletk diekvlvslq kaedymktts
      241 nfsgkgyiiq kreikpclea dkpvedilty eefhpflfsq hsqcpyiefe sfdkavdefy
      301 skiegqkidl kalqqekqal kkldnvrkdh enrlealqqa qeidklkgel iemnlqivdr
      361 aiqvvrsala nqidwteigl ivkeaqaqgd pvasaikelk lqtnhvtmll rnpyllseee
      421 dddvdgdvnv ekneteppkg kkkkqknkql qkpqknkpll vdvdlslsay anakkyydhk
      481 ryaakktqkt veaaekafks aekktkqtlk evqtvtsiqk arkvywfekf lwfissenyl
      541 iiggrdqqqn eiivkryltp gdiyvhadlh gatscviknp tgepipprtl teagtmalcy
      601 saawdarvit sawwvyhhqv sktaptgeyl ttgsfmirgk knflppsylm mgfsflfkvd
      661 escvwrhqge rkvrvqdedm etlasctsel iseemeqldg gdtssdedke ehetpvevel
      721 mtqvdqedit lqsgrdelne eliqeessed egeyeevrkd qdsvgemkde geetlnypdt
      781 tidlshlqpq rsiqklaske essnssdsks qsrrhlsake rremkkkklp sdsgdleale
      841 gkdkekestv hiethqntsk nvaavqpmkr gqkskmkkmk ekykdqdeed relimkllgs
      901 agsnkeekgk kgkkgktkde pvkkqpqkpr ggqrvsdnik ketpflevit helqdfavdd
      961 phddkltflf lyvrnrkski winremrkty lil
//
LOCUS       XP_054176979             392 aa            linear   PRI 20-MAR-2023
DEFINITION  acid phosphatase type 7 isoform X2 [Homo sapiens].
ACCESSION   XP_054176979
VERSION     XP_054176979.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321004.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..392
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..392
                     /product="acid phosphatase type 7 isoform X2"
                     /calculated_mol_wt=45001
     CDS             1..392
                     /gene="ACP7"
                     /gene_synonym="PAPL; PAPL1"
                     /coded_by="XM_054321004.1:212..1390"
                     /db_xref="GeneID:390928"
                     /db_xref="HGNC:HGNC:33781"
                     /db_xref="MIM:610490"
ORIGIN      
        1 mhplpgywsc ycllllfslg vqgslgapsa apeqvhlsyp gepgsmtvtw ttwvptrsev
       61 qfglqpsgpl plraqgtfvp fvdggilrrk lyihrvtlrk llpgvqyvyr cgsaqgwsrr
      121 frfralknga hwsprlavfg dlgadnpkav prlrrdtqqg mydavlhvgd faynldqdna
      181 rvgdrfmrli epvaaslpym tcpgnheery nfsnykarfs mpgdneglwy swdlgpahii
      241 sfstevyffl hygrhlvqrq frwlesdlqk anknraarpw iitmghrpmy csnadlddct
      301 rheskvrkgl qgklygledl fykygvdlql wahehsyerl wpiynyqvfn gsrempytnp
      361 rgpvhiitgs adgkivddvw vvrplfgrrm yl
//
LOCUS       XP_054199955             458 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium-responsive transcription factor isoform X1 [Homo sapiens].
ACCESSION   XP_054199955
VERSION     XP_054199955.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343980.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..458
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..458
                     /product="calcium-responsive transcription factor isoform
                     X1"
                     /calculated_mol_wt=51286
     CDS             1..458
                     /gene="CARF"
                     /gene_synonym="ALS2CR8; NYD-SP24"
                     /coded_by="XM_054343980.1:1171..2547"
                     /db_xref="GeneID:79800"
                     /db_xref="HGNC:HGNC:14435"
                     /db_xref="MIM:607586"
ORIGIN      
        1 meqsndslrv nhndgeeskt saqvfehlic mdsrdssfgq ndsptvlpit treannslis
       61 qnipgpltqt qtlsaeqfhl vdqngqaiqy elqslgesna qmmivaspte ngqvlrvipp
      121 tqtgmaqvii pqgqlvdvns prdvpeekps nrnlptvrvd tladntsnyi lhpqtsfplp
      181 kksvtgmlee pllgplqpls sntpiwacrl rscekigdsy rgycvsetel esvltfhkqq
      241 tqsvwgtrqs pspakpatrl mwksqyvpyd gipfvnagsr avvmecqygp rrkgfqlkkv
      301 seqesrscql ykatcpariy ikkvqkfpey rvptdpkidk kiirmeqeka fnmlkknlvd
      361 aggvlrwyvq lptqqahqyh eletpcltls pspfpvssle eeetavrden calpsrlhpq
      421 vahkiqelvs qgieqvyavr kqlsfnglqt vgifskrp
//
LOCUS       XP_054181547            1408 aa            linear   PRI 20-MAR-2023
DEFINITION  chromatin remodeling regulator CECR2 isoform X6 [Homo sapiens].
ACCESSION   XP_054181547
VERSION     XP_054181547.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325572.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 5% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1408
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1408
                     /product="chromatin remodeling regulator CECR2 isoform X6"
                     /calculated_mol_wt=155720
     CDS             1..1408
                     /gene="CECR2"
                     /coded_by="XM_054325572.1:325..4551"
                     /db_xref="GeneID:27443"
                     /db_xref="HGNC:HGNC:1840"
                     /db_xref="MIM:607576"
ORIGIN      
        1 mcpeeggaag lgelrswwev paiahfcslf rtafrlpdfe ieeleaalhr ddvefisdli
       61 acllqgcyqr rditpqtfhs ylediinyrw eleegkpnpl reasfqdlpl rtrveilhrl
      121 cdyrldaddv fdllkgldad slrveplged nsgalywyfy gtrmykedpv qgksngelsl
      181 sresegqknv ssipgktgkr rgrppkrkkl qeeillsekq eenslasepq trhgsqgpgq
      241 gtwwllcqte eewrqvtesf rertslrerq lykllsedfl peicnmiaqk etpvltriek
      301 qkrkeeeeer qillavqkke qeqmlkeerk releekvkav edrakrrklr eerawllaqg
      361 kelppelshl dpnspmreek ktkdlfeldd dftamykvld vvkahkdswp flepvdesya
      421 pnyyqiikap mdissmekkl ngglyctkee fvndmktmfr ncrkyngess eytkmsdnle
      481 rcfhrammkh fpgedgdtde efwiredekr ekrrsragrs ggshvwtrsr dpegssrkqq
      541 pmenggkslp ptrrapssgd dqsssstqpp rerpavpgtf gplrgsdpat lygssgvpep
      601 hpgepvqqrq pftmqppvgi nslrgprlgt peekqmcggl thlsnmgphp gslqlgqisg
      661 psqdgsmyap aqfqpgfipp rhggaparpp dfpesseipp shmyrsykyl nrvhsavwng
      721 nhgatnqgpl gpdekphlgp gpshqprtlg hvmdsrvmrp pvppnqwteq sgflphgvps
      781 sgymrppcks aghrlqpppv papsslfgap aqalrgvqgg dsmmdspemi amqqlssrvc
      841 ppgvpyhphq pahprlpgpf pqvahpmsvt vsapkpalgn pgrapensea qependqaep
      901 lpgleekppg vgtsegvylt qlphptpplq tdctrqsspq eretvgpelk ssssesadnc
      961 kamkgknpwp sdssypgpaa qgcvrdlstv adrgalseng vigeaspcgs egkglgssgs
     1021 ekllcprgrt lqetmpctgq naatppstdp gltggtvsqf pplympgley pnsaahyhis
     1081 pglqgvgpvm ggkspashpq hfpprgfqsn hphsggfpry rppqgmrysy hpppqpsyhh
     1141 yqrtpyyacp qsfsdwqrpl hpqgspsgpp asqpppprsl fsdknamasl qgcetlnaal
     1201 tsptrmdava akvpndgqnp gpeeekldes merpespkef ldldnhnaat krqsslsase
     1261 ylygtpppls sgmgfgssaf pphsvmlqtg ppytpqrpas hfqprayssp vaalpphhpg
     1321 atqpnglsqe gpiyrcqeeg lghfqavmme qigtrsgirg pfqemyrpsg mqmhpvqsqa
     1381 sfpktptaat sqeevpphkp ptlpldqs
//
LOCUS       XP_054181956             580 aa            linear   PRI 20-MAR-2023
DEFINITION  synapsin-3 isoform X1 [Homo sapiens].
ACCESSION   XP_054181956
VERSION     XP_054181956.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325981.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..580
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..580
                     /product="synapsin-3 isoform X1"
                     /calculated_mol_wt=63172
     CDS             1..580
                     /gene="SYN3"
                     /coded_by="XM_054325981.1:1015..2757"
                     /db_xref="GeneID:8224"
                     /db_xref="HGNC:HGNC:11496"
                     /db_xref="MIM:602705"
ORIGIN      
        1 mnflrrrlsd ssfmanlpng ymtdlqrpds stsspaspam errhpqplaa sfsspgsslf
       61 sslssamkqa pqatsglmep pgpstpivqr prillvidda htdwskyfhg kkvngeieir
      121 veqaefseln laayvtggcm vdmqvvrngt kvvsrsfkpd filvrqhays malgedyrsl
      181 viglqygglp avnslysvyn fcskpwvfsq likifhslgp ekfplveqtf fpnhkpmvta
      241 phfpvvvklg hahagmgkik venqldfqdi tsvvamakty atteafidsk ydiriqkigs
      301 nykaymrtsi sgnwkantgs amleqvamte ryrlwvdscs emfggldica vkavhskdgr
      361 dyiievmdss mpligehvee drqlmadlvv skmsqlpmpg gtapsplrpw apqiksaksp
      421 gqaqlgpqlg qpqprpppqg gprqaqspqp qrsgspsqqr lspqgqqpls pqsgspqqqr
      481 spgspqlsra ssgsspnqas kpgatlasqp rppvqgrsts qqgeeskkpa pphphlnksq
      541 sltnslstsd tsqrgtpsed eakaetirnl rksfaslfsd
//
LOCUS       XP_054204576            1078 aa            linear   PRI 20-MAR-2023
DEFINITION  SLIT-ROBO Rho GTPase-activating protein 3 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054204576
VERSION     XP_054204576.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348601.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1078
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1078
                     /product="SLIT-ROBO Rho GTPase-activating protein 3
                     isoform X6"
                     /calculated_mol_wt=121915
     CDS             1..1078
                     /gene="SRGAP3"
                     /gene_synonym="ARHGAP14; MEGAP; SRGAP2; WRP"
                     /coded_by="XM_054348601.1:696..3932"
                     /db_xref="GeneID:9901"
                     /db_xref="HGNC:HGNC:19744"
                     /db_xref="MIM:606525"
ORIGIN      
        1 mssqtkfkkd keiiaeyeaq ikeirtqlve qfkcleqqse srlqllqdlq effrrkaeie
       61 leysrslekl aerfsskirs srehqfkkdq yllspvncwy lvlhqtrres rdhatlndif
      121 mnnvivrlsq isedvirlfk kvmktyhmyh aesisaeskl keaekqeekq fnksgdlsmn
      181 llrhedrpqr rssvkkiekm kekrqakyse nklkctkarn dyllnlaatn aaiskyyihd
      241 vsdlidccdl gfhaslartf rtylsaeynl etsrhegldv ienavdnlds rsdkhtvmdm
      301 cnqvfcpplk fefqphmgde vcqvsaqqpv qtellmryhq lqsrlatlki eneevrktld
      361 atmqtlqdml tvedfdvsda fqhsrstesv ksaasetyms kiniakrran qqetemfyft
      421 kfkeyvngsn litklqakhd llkqtlgege raecgttrpp clppkpqkmr rprplsvysh
      481 klfngsmeaf ikdsgqaipl vvesciryin lyglqqqgif rvpgsqvevn diknsferge
      541 dplvddqner dinsvagvlk lyfrglenpl fpkerfqdli stiklenpae rvhqiqqilv
      601 tlprvvivvm rylfaflnhl sqysdenmmd pynlaicfgp tlmhipdgqd pvscqahine
      661 viktiiihhe aifpsprele gpvyekcmag geeycdsphs epgaidevdh dngtephtsd
      721 eeveqieaia kfdymgrspr elsfkkgasl llyhrasedw wegrhngvdg liphqyivvq
      781 dmddafsdsl sqkadseass gpllddkass kndlqspteh isdygfggvm grvrlrsdga
      841 aiprrrsggd thspprglgp sidtppraaa cpssphkipl trgriespek rrmatfgsag
      901 sinypdkkal seghsmrstc gstrhsslgd hksleaeala ediektmsta lhelrelerq
      961 ntvkqapdvv ldtleplknp pgpvssepas plhtivirdp daamrrssss stemmttfkp
     1021 alsarlagaq lrpppmrpvr pvvqhrssss sssgvgspav tptekmfpns sadksgtm
//
LOCUS       XP_054207184             330 aa            linear   PRI 20-MAR-2023
DEFINITION  LIM domain-binding protein 2 isoform X12 [Homo sapiens].
ACCESSION   XP_054207184
VERSION     XP_054207184.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351209.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..330
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..330
                     /product="LIM domain-binding protein 2 isoform X12"
                     /calculated_mol_wt=37382
     CDS             1..330
                     /gene="LDB2"
                     /gene_synonym="CLIM1; LDB-2; LDB1"
                     /coded_by="XM_054351209.1:701..1693"
                     /db_xref="GeneID:9079"
                     /db_xref="HGNC:HGNC:6533"
                     /db_xref="MIM:603450"
ORIGIN      
        1 mdsdnlwwda fateffedda tltlsfcled gpkrytigrt lipryfstvf eggvtdlyyi
       61 lkhskesyhn ssitvdcdqc tmvtqhgkpm ftkvctegrl ileftfddlm riktwhftir
      121 qyrelvprsi lamhaqdpqv ldqlsknitr mgltnftlny lrlcvilepm qelmsrhkty
      181 nlsprdclkt clfqkwqrmv appaeptrqp ttkrrkrkns tsstsnssag nnanstgskk
      241 kttaanlsls sqvpdvmvvg eptlmggefg dederlitrl entqydaang mddeedfnns
      301 palgnnspwn skppatqetk senpppqasq
//
LOCUS       XP_054210193             504 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-1(IX) chain isoform X5 [Homo sapiens].
ACCESSION   XP_054210193
VERSION     XP_054210193.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354218.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..504
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..504
                     /product="collagen alpha-1(IX) chain isoform X5"
                     /calculated_mol_wt=48114
     CDS             1..504
                     /gene="COL9A1"
                     /gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
                     /coded_by="XM_054354218.1:656..2170"
                     /db_xref="GeneID:1297"
                     /db_xref="HGNC:HGNC:2217"
                     /db_xref="MIM:120210"
ORIGIN      
        1 mrghkgakge igepgrqghk geegdqgelg evgaqgppga qglrgitgiv gdkgekgarg
       61 ldgepgpqgl pgapgdqgqr gppgeagpkg drgaegargi pglpgpkgdt glpgvdgrdg
      121 ipgmpgtkel skiallmkge pgkpgppgda glqglpgvpg ipgakgvage kgstgapgkp
      181 gqmgnsgkpg qqgppgevgp rgpqglpgsr gelgpvgspg lpgklgslgs pglpglpgpp
      241 glpgmkgdrg vvgepgpkge qgasgeegea gergelgdig lpgpkgsagn pgepglrgpe
      301 gsrglpgveg prgppgprgv qgeqgatglp gvqgppgrap tdqhikqvcm rviqehfaem
      361 aaslkrpdsg atglpgrpgp pgppgppgen gfpgqmgirg lpgikgppga lglrgpkgdl
      421 gekgergppg rgpnglpgai glpgdpgpas ygrngrdger gppgvagipg vpgppgppgl
      481 pgfcepasct mqagqrafnk gpdp
//
LOCUS       XP_054210961             505 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein kinase FRK isoform X1 [Homo sapiens].
ACCESSION   XP_054210961
VERSION     XP_054210961.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354986.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..505
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..505
                     /product="tyrosine-protein kinase FRK isoform X1"
                     /calculated_mol_wt=58123
     CDS             1..505
                     /gene="FRK"
                     /gene_synonym="GTK; PTK5; RAK"
                     /coded_by="XM_054354986.1:502..2019"
                     /db_xref="GeneID:2444"
                     /db_xref="HGNC:HGNC:3955"
                     /db_xref="MIM:606573"
ORIGIN      
        1 msnicqrlwe ylepylpcls teadkstvie npgalcspqs qrhghyfval fdyqartaed
       61 lsfragdklq vldtlhegww farhlekrrd gssqqlqgyi psnyvaedrs lqaepwffga
      121 igrsdaekql lysenktgsf liresesqkg efslsvldga vvkhyrikrl deggffltrr
      181 rifstlnefv shytktsdgl cvklgkpclk iqvpapfdls yktvdqweid rnsiqllkrl
      241 gsgqfgevwe glwnnttpva vktlkpgsmd pndflreaqi mknlrhpkli qlyavctled
      301 piyiitelmr hgslqeylqn dtgskihltq qvdmaaqvas gmaylesrny ihrdlaarnv
      361 lvgehniykv adfglarvfk vdnediyesr heiklpvkwt apeairsnkf siksdvwsfg
      421 illyeiityg kmpysgmtga qviqmlaqny rlpqpsncpq qfynimlecw naepkerptf
      481 etlrwkledy fetdssysda nnfir
//
LOCUS       XP_054214267            1202 aa            linear   PRI 20-MAR-2023
DEFINITION  neuronal cell adhesion molecule isoform X19 [Homo sapiens].
ACCESSION   XP_054214267
VERSION     XP_054214267.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358292.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1202
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1202
                     /product="neuronal cell adhesion molecule isoform X19"
                     /calculated_mol_wt=132897
     CDS             1..1202
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /coded_by="XM_054358292.1:526..4134"
                     /db_xref="GeneID:4897"
                     /db_xref="HGNC:HGNC:7994"
                     /db_xref="MIM:601581"
ORIGIN      
        1 mqlkimpkkk rlsagrvpli lflcqmisal evpldpklle dlvqpptitq qspkdyiidp
       61 reniviqcea kgkpppsfsw trngthfdid kdplvtmkpg tgtliinims egkaetyegv
      121 yqctarnerg aavsnnivvr psrsplwtke klepitlqsg qslvlpcrpp iglpppiifw
      181 mdnsfqrlpq servsqglng dlyfsnvlpe dtredyicya rfnhtqtiqq kqpisvkvis
      241 vdelndtiaa nlsdtefyga kssrerpptf ltpegnasnk eelrgnvlsl eciaeglptp
      301 iiywakedgm lpknrtvykn fektlqiihv seadsgnyqc iaknalgaih htisvrvkaa
      361 pywitapqnl vlspgedgtl icrangnpkp riswltngvp ieiapddpsr kidgdtiifs
      421 nvqerssavy qcnasneygy llanafvnvl aeppriltpa ntlyqvianr palldcaffg
      481 splptiewfk gakgsalhed iyvlhengtl eipvaqkdst gtytcvarnk lgmaknevhl
      541 eikdatwivk qpeyavvqrg smvsfeckvk hdhtlsltvl wlkdnrelps derftvdkdh
      601 lvvadvsddd sgtytcvant tldsvsasav lsvvaptptp apvydvpnpp fdleltdqld
      661 ksvqlswtpg ddnnspitkf iieyedamhk pglwhhqtev sgtqttaqlk lspyvnysfr
      721 vmavnsigks lpseaseqyl tkasepdknp taveglgsep dnlvitwkpl ngfesngpgl
      781 qykvswrqkd gddewtsvvv anvskyivsg tptfvpylik vqalndmgfa pepavvmghs
      841 gedlpmvapg nvrvnvvnst laevhwdpvp lksirghlqg yriyywktqs sskrnrrhie
      901 kkiltfqgsk thgmlpglep fshytlnvrv vngkgegpas pdrvfntpeg vpsapsslki
      961 vnptldsltl ewdppshpng ilteytlkyq pinsthelgp lvdlkipank trwtlknlnf
     1021 strykfyfya qtsagsgsqi teeavttvde gkmamasrqv diatqgwfig lmcavallil
     1081 illivcfirr nkggkypvke kedahadpei qpmkeddgtf geysdaedhk plkkgsrtps
     1141 drtvkkedsd dslvdygegv ngqfnedgsf igqysgkkek epaegnesse apspvnamns
     1201 fv
//
LOCUS       XP_054215484             566 aa            linear   PRI 20-MAR-2023
DEFINITION  LOW QUALITY PROTEIN: helicase SRCAP-like isoform X2 [Homo sapiens].
ACCESSION   XP_054215484
VERSION     XP_054215484.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359509.1
KEYWORDS    RefSeq; corrected model; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio            :: 50% of CDS bases
            internal stop codons :: corrected 1 genomic stop codon
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..566
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..566
                     /product="LOW QUALITY PROTEIN: helicase SRCAP-like isoform
                     X2"
                     /calculated_mol_wt=57493
     CDS             1..566
                     /gene="LOC124901651"
                     /coded_by="XM_054359509.1:1..1701"
                     /note="The sequence of the model RefSeq protein was
                     modified relative to its source genomic sequence to
                     represent the inferred CDS: substituted 1 base at 1
                     genomic stop codon"
                     /db_xref="GeneID:124901651"
ORIGIN      
        1 mgliphngls rpsfslpaas lgpeapqvgl srptcslpas spgpalppgc icrpgsclpt
       61 tsvdsvpaql lvalvgpqlp qaklprpssg ltvaspgsap alrrrlqapn glrsvgfsrp
      121 slglpaasag psgpeaqplp lgglylnsgp ssptsclava ssgqapalgr ppqaqllphg
      181 ppeaklmrpe ldlqstsagl asclpkactg pasasqrtlh aqlalacglp spklrplrrf
      241 grpssrlpva ssgpwgsflt tafpgpffpf rrplrtqkll ksasadplaa srrplraqlf
      301 lpaasagptp asqqplwtqc lpsswwpwsa hsflkpsspg paqasrwplq aqllpsdgvs
      361 rpqtasgrwa spgpawasrr plqaqvvlka aspgpapasq qassfgsapa qlppafvdpe
      421 lspakllsst sclpvactgp glageqplqa pllpprgvsr pssrltaasr dqvpaclpaa
      481 cvrpsssvtv acxgpthasg tlsrgvspcl tlasltlrev svspcltlas ltlrevsvsp
      541 cltlasltlr evsvgpclkl asltlr
//
LOCUS       XP_054217274             470 aa            linear   PRI 20-MAR-2023
DEFINITION  dendritic cell-specific transmembrane protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_054217274
VERSION     XP_054217274.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361299.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..470
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..470
                     /product="dendritic cell-specific transmembrane protein
                     isoform X1"
                     /calculated_mol_wt=53262
     CDS             1..470
                     /gene="DCSTAMP"
                     /gene_synonym="FIND; hDC-STAMP; TM7SF4"
                     /coded_by="XM_054361299.1:582..1994"
                     /db_xref="GeneID:81501"
                     /db_xref="HGNC:HGNC:18549"
                     /db_xref="MIM:605933"
ORIGIN      
        1 mgiwtsgtdi flslweiyvs prspgwmdfi qhlgvcclva lisvgllsva acwflpsiia
       61 aaaswiitcv llccskharc fillvflscg lregrnalia agtgivilgh venifhnfkg
      121 lldgmtcnlr aksfsihfpl lkkyieaiqw iyglatplsv fddlvswnqt lavslfspsh
      181 vleaqlndsk gevlsvlyqm atttevlssl gqkllafagl slvllgtglf mkrflgpcgw
      241 kyeniyitrq fvqfdererh qqrpcvlpln keerrkyvii ptfwptpker knlglfflpi
      301 lihlciwvlf aavdyllyrl ifsvskqfqs lpgfevhlkl hgekqgtqdi ihdssfnisv
      361 fepncipkpk fllsetwvpl svillilvml gllssilmql kilvsasfyp sverkriqyl
      421 hakllkkrsk qplgevkrrl slyltkihfw lpvlkmirkk qmdmasadks
//
LOCUS       XP_054217568            1566 aa            linear   PRI 20-MAR-2023
DEFINITION  regulating synaptic membrane exocytosis protein 2 isoform X24 [Homo
            sapiens].
ACCESSION   XP_054217568
VERSION     XP_054217568.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361593.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1566
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1566
                     /product="regulating synaptic membrane exocytosis protein
                     2 isoform X24"
                     /calculated_mol_wt=176793
     CDS             1..1566
                     /gene="RIMS2"
                     /gene_synonym="CRSDS; OBOE; RAB3IP3; RIM2"
                     /coded_by="XM_054361593.1:278..4978"
                     /db_xref="GeneID:9699"
                     /db_xref="HGNC:HGNC:17283"
                     /db_xref="MIM:606630"
ORIGIN      
        1 msapvgprgr lapipaasqp plqpempdls hlteeerkii lavmdrqkke eekeqsvlkk
       61 lhqqfemyke qvkkmgeesq qqqeqkgdap tcgichktkf adgcghncsy cqtkfcarcg
      121 grvslrsnkv mwvcnlcrkq qeiltksgaw fynsgsntpq qpdqkvlrgl rneeapqekk
      181 pklheqtqfq gpsgdlsvpa veksrshglt rqhsikngsg vkhhiasdia sdrktssell
      241 nskiisrkrs psvsrdqnrr ydqreereey sqyatsdtam prspsdyadr rsqhepqfye
      301 dsdhlsyrds nrrshrhske yivddedves rdeyerqrre eeyqsryrsd pnlarypvkp
      361 qpyeeqmrih aevsrarher rhsdvslana dledsrisml rmdrpsrqrs iserraamen
      421 qrsysmertr eaqgpssyaq rttnhspptp rrsplpidrp dlrrtdslrk qhhldpssav
      481 rktkrekmet mlrndslssd qsesvrpppp kphkskkggk mrqislssse eelastpeyt
      541 scddveiese svsekgdsqk gkrktseqav lsdsntrser qkemmyfggh sleedlewse
      601 pqikdsgvdt cssttlneeh shsdkhpvtw qpskdgdrli grillnkrlk dgsvprdsga
      661 mlglkvvggk mtesgrlcaf itkvkkgsla dtvghlrpgd evlewngrll qgatfeevyn
      721 iileskpepq velvvsrpig dipripdsth aqlesssssf esqkmdrpsi svtspmspgm
      781 lrdvpqflsg qlsiklwfdk vghqlivtil gakdlpsred grprnpyvki yflpdrsdkn
      841 krrtktvkkt lepkwnqtfi yspvhrrefr ermleitlwd qarvreeese flgeiliele
      901 tallddephw yklqthdvss lplphpspym prrqlhgesp trrlqrskri sdsevsdydc
      961 ddgigvvsdy rhdgrdlqss tlsvpeqvms snhcspsgsp hrvdvigrtr swspsvpppq
     1021 srnveqglrg trtmtghynt isrmdrhrvm ddhyspdrdr dceaadrqpy hrsrsteqrp
     1081 llertttrsr sterpdtnlm rsmpslmtgr sappspalsr shprtgsvqt spsstpvagr
     1141 rgrqlpqlpp kgtldrstmd ieernrqmki nkykqvagsd prleqdyhsk yrsgwdphrg
     1201 adnvstkssd sdvsdisavs rtssasrfss tsymsvqser pggnkkisvf tskmqsrqmg
     1261 isgknmtkst sisgdmcsle kndgsqsdta vgtlgtsgkk rrsslgakmv aivglsrksr
     1321 sasqlsqtea ggkklrstvq rstetglave mrnwmtrqas restdgsmns yssegnlifp
     1381 gvrlasdsqf sdfldglgpa qlvgrqtlat pamgdiqvgm mdkkgqleve iirarglvvk
     1441 pgsktlpapy vkvylldngv ciakkktkva rktleplyqq llsfeespqg kvlqiivwgd
     1501 ygrmdhksfm gvaqilldel elsnmvigwf klfppsslvd ptlapltrra sqsslesstg
     1561 psysrs
//
LOCUS       XP_054218310             488 aa            linear   PRI 20-MAR-2023
DEFINITION  ribitol-5-phosphate transferase FKTN isoform X1 [Homo sapiens].
ACCESSION   XP_054218310
VERSION     XP_054218310.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362335.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..488
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..488
                     /product="ribitol-5-phosphate transferase FKTN isoform X1"
                     /calculated_mol_wt=56323
     CDS             1..488
                     /gene="FKTN"
                     /gene_synonym="CMD1X; FCMD; LGMD2M; LGMDR13; MDDGA4;
                     MDDGB4; MDDGC4"
                     /coded_by="XM_054362335.1:364..1830"
                     /db_xref="GeneID:2218"
                     /db_xref="HGNC:HGNC:3622"
                     /db_xref="MIM:607440"
ORIGIN      
        1 msrinknvvl alltltssaf llfqlyyykh ylstkngagl skskgsrigf dstqwravkk
       61 fimltsnqnv pvflidplil elinknfeqv kntshgstsq ckffcvprdf tafalqyhlw
      121 kneegwfria enmgfqclki eskdprldgi dslsgteipl hyicklatha ihlvvfhers
      181 gnylwhghlr lkehidrkfv pfqklqfgry pgafdrpelq qvtvdglevl ipkdpmhfve
      241 evphsrfiec rykearaffq qylddntvea vafrksakel lqlaaktlnk lgvpfwlssg
      301 tclgwyrqcn iipyskdvdl gifiqdyksd iilafqdagl plkhkfgkve dslelsfqgk
      361 ddvkldvfff yeetdhmwng gtqaktgkkf kyesnkylfi khpnlpvikv mniitmppec
      421 evlnstshfl kmlprfiwfa sflpilnqlv wvearslkgi fyhktrsvis sklptiitfl
      481 arhsgscl
//
LOCUS       XP_054183188             119 aa            linear   PRI 20-MAR-2023
DEFINITION  cysteine-rich hydrophobic domain-containing protein 1 isoform X3
            [Homo sapiens].
ACCESSION   XP_054183188
VERSION     XP_054183188.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327213.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..119
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..119
                     /product="cysteine-rich hydrophobic domain-containing
                     protein 1 isoform X3"
                     /calculated_mol_wt=13205
     CDS             1..119
                     /gene="CHIC1"
                     /gene_synonym="BRX"
                     /coded_by="XM_054327213.1:138..497"
                     /db_xref="GeneID:53344"
                     /db_xref="HGNC:HGNC:1934"
                     /db_xref="MIM:300922"
ORIGIN      
        1 msillpnmae fdtiseleee eeeeaatsss spsssssvsg pdddeedeee eeeeeeeeee
       61 eeeeeeeeap ppprvvseeh lrryapdpvl vrgaghitvf glsnkfdtef psvltgkkf
//
LOCUS       NP_001374470            1434 aa            linear   PRI 21-MAR-2023
DEFINITION  adhesion G protein-coupled receptor L3 isoform 16 [Homo sapiens].
ACCESSION   NP_001374470
VERSION     NP_001374470.1
DBSOURCE    REFSEQ: accession NM_001387541.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1434)
  AUTHORS   Vidal OM, Velez JI and Arcos-Burgos M.
  TITLE     ADGRL3 genomic variation implicated in neurogenesis and ADHD links
            functional effects to the incretin polypeptide GIP
  JOURNAL   Sci Rep 12 (1), 15922 (2022)
   PUBMED   36151371
  REMARK    GeneRIF: ADGRL3 genomic variation implicated in neurogenesis and
            ADHD links functional effects to the incretin polypeptide GIP.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1434)
  AUTHORS   Wang J, Xi SY, Zhao Q, Xia YF, Yang QY, Cai HP, Wang F, Zhao YY, Hu
            HJ, Yu ZH, Chen FR, Xu PF, Xu RZ, Wang J, Zhang J, Ke C, Zhang XH,
            Lin FH, Guo CC, Lv YC, Li C, Xie HT, Cui Q, Wu HM, Liu YH, Li Z, Su
            HK, Zeng J, Han F, Li ZJ, Sai K and Chen ZP.
  TITLE     Driver mutations in ADGRL3 are involved in the evolution of
            ependymoma
  JOURNAL   Lab Invest 102 (7), 702-710 (2022)
   PUBMED   35013530
  REMARK    GeneRIF: Driver mutations in ADGRL3 are involved in the evolution
            of ependymoma.
REFERENCE   3  (residues 1 to 1434)
  AUTHORS   Avila-Zozaya M, Rodriguez-Hernandez B, Monterrubio-Ledezma F,
            Cisneros B and Boucard AA.
  TITLE     Thwarting of Lphn3 Functions in Cell Motility and Signaling by
            Cancer-Related GAIN Domain Somatic Mutations
  JOURNAL   Cells 11 (12), 1913 (2022)
   PUBMED   35741042
  REMARK    GeneRIF: Thwarting of Lphn3 Functions in Cell Motility and
            Signaling by Cancer-Related GAIN Domain Somatic Mutations.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1434)
  AUTHORS   Moreno-Salinas AL, Holleran BJ, Ojeda-Muniz EY, Correoso-Brana KG,
            Ribalta-Mena S, Ovando-Zambrano JC, Leduc R and Boucard AA.
  TITLE     Convergent selective signaling impairment exposes the pathogenicity
            of latrophilin-3 missense variants linked to inheritable ADHD
            susceptibility
  JOURNAL   Mol Psychiatry 27 (5), 2425-2438 (2022)
   PUBMED   35393556
  REMARK    GeneRIF: Convergent selective signaling impairment exposes the
            pathogenicity of latrophilin-3 missense variants linked to
            inheritable ADHD susceptibility.
REFERENCE   5  (residues 1 to 1434)
  AUTHORS   Cervantes-Henriquez ML, Acosta-Lopez JE, Martinez AF, Arcos-Burgos
            M, Puentes-Rozo PJ and Velez JI.
  TITLE     Machine Learning Prediction of ADHD Severity: Association and
            Linkage to ADGRL3, DRD4, and SNAP25
  JOURNAL   J Atten Disord 26 (4), 587-605 (2022)
   PUBMED   34009035
  REMARK    GeneRIF: Machine Learning Prediction of ADHD Severity: Association
            and Linkage to ADGRL3, DRD4, and SNAP25.
REFERENCE   6  (residues 1 to 1434)
  AUTHORS   Ushkaryov YA, Volynski KE and Ashton AC.
  TITLE     The multiple actions of black widow spider toxins and their
            selective use in neurosecretion studies
  JOURNAL   Toxicon 43 (5), 527-542 (2004)
   PUBMED   15066411
  REMARK    Review article
REFERENCE   7  (residues 1 to 1434)
  AUTHORS   Sudhof TC.
  TITLE     alpha-Latrotoxin and its receptors: neurexins and CIRL/latrophilins
  JOURNAL   Annu Rev Neurosci 24, 933-962 (2001)
   PUBMED   11520923
  REMARK    Review article
REFERENCE   8  (residues 1 to 1434)
  AUTHORS   Kreienkamp HJ, Zitzer H, Gundelfinger ED, Richter D and Bockers TM.
  TITLE     The calcium-independent receptor for alpha-latrotoxin from human
            and rodent brains interacts with members of the ProSAP/SSTRIP/Shank
            family of multidomain proteins
  JOURNAL   J Biol Chem 275 (42), 32387-32390 (2000)
   PUBMED   10964907
REFERENCE   9  (residues 1 to 1434)
  AUTHORS   Hayflick JS.
  TITLE     A family of heptahelical receptors with adhesion-like domains: a
            marriage between two super families
  JOURNAL   J Recept Signal Transduct Res 20 (2-3), 119-131 (2000)
   PUBMED   10994649
  REMARK    Review article
REFERENCE   10 (residues 1 to 1434)
  AUTHORS   Soares MB, Bonaldo MF, Jelene P, Su L, Lawton L and Efstratiadis A.
  TITLE     Construction and characterization of a normalized cDNA library
  JOURNAL   Proc Natl Acad Sci U S A 91 (20), 9228-9232 (1994)
   PUBMED   7937745
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092643.2, AC092668.2,
            AC108161.4, AC096723.3, AC092663.2 and AC007511.8.
            
            Summary: This gene encodes a member of the latrophilin subfamily of
            G-protein coupled receptors (GPCR). Latrophilins may function in
            both cell adhesion and signal transduction. In experiments with
            non-human species, endogenous proteolytic cleavage within a
            cysteine-rich GPS (G-protein-coupled-receptor proteolysis site)
            domain resulted in two subunits (a large extracellular N-terminal
            cell adhesion subunit and a subunit with substantial similarity to
            the secretin/calcitonin family of GPCRs) being non-covalently bound
            at the cell membrane. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1434
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.1"
     Protein         1..1434
                     /product="adhesion G protein-coupled receptor L3 isoform
                     16"
                     /note="latrophilin homolog 3 (cow); calcium-independent
                     alpha-latrotoxin receptor 3; latrophilin-3; lectomedin 3"
                     /calculated_mol_wt=160324
     Region          3..101
                     /region_name="Gal_Rha_Lectin_LPHN3"
                     /note="galactose/rhamnose binding lectin domain found in
                     latrophilin-3 and similar proteins; cd22846"
                     /db_xref="CDD:438703"
     Site            order(5,8,10,13,18..23,38..41,99)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:438703"
     Site            order(11..12,42..43,45..46,48,85,88)
                     /site_type="other"
                     /note="octamer interface [polypeptide binding]"
                     /db_xref="CDD:438703"
     Site            order(66..67,101)
                     /site_type="other"
                     /note="NAG binding site [chemical binding]"
                     /db_xref="CDD:438703"
     Region          111..367
                     /region_name="OLF"
                     /note="Olfactomedin-like domains; smart00284"
                     /db_xref="CDD:128580"
     Region          469..533
                     /region_name="HormR"
                     /note="Domain present in hormone receptors; smart00008"
                     /db_xref="CDD:214468"
     Region          542..762
                     /region_name="GAIN"
                     /note="GPCR-Autoproteolysis INducing (GAIN) domain;
                     pfam16489"
                     /db_xref="CDD:435371"
     Region          788..840
                     /region_name="GPS"
                     /note="G-protein-coupled receptor proteolytic site domain;
                     smart00303"
                     /db_xref="CDD:197639"
     Region          848..1105
                     /region_name="7tmB2_Latrophilin-3"
                     /note="Latrophilin-3, member of the class B2 family of
                     seven-transmembrane G protein-coupled receptors; cd16005"
                     /db_xref="CDD:320671"
     Region          850..875
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320671"
     Site            order(855,859,901,904..905,908,915,922,994..995,997,999,
                     1055,1058,1070,1074)
                     /site_type="other"
                     /note="putative polypeptide ligand binding pocket
                     [polypeptide binding]"
                     /db_xref="CDD:320671"
     Region          884..906
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320671"
     Region          915..942
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320671"
     Region          954..974
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320671"
     Region          991..1020
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320671"
     Region          1036..1063
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320671"
     Region          1067..1092
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320671"
     Region          1105..1434
                     /region_name="Latrophilin"
                     /note="Latrophilin Cytoplasmic C-terminal region;
                     pfam02354"
                     /db_xref="CDD:426735"
     CDS             1..1434
                     /gene="ADGRL3"
                     /gene_synonym="CIRL3; CL3; LEC3; LPHN3"
                     /coded_by="NM_001387541.1:84..4388"
                     /note="isoform 16 is encoded by transcript variant 28"
                     /db_xref="GeneID:23284"
                     /db_xref="HGNC:HGNC:20974"
                     /db_xref="MIM:616417"
ORIGIN      
        1 mavvrrelsc esypielrcp gtdvimiesa nygrtddkic dsdpaqmeni rcylpdayki
       61 msqrcnnrtq cavvagpdvf pdpcpgtyky levqyecvpy kveqkvflcp gllkgvyqse
      121 hlfesdhqsg awckdplqas dkiyympwtp yrtdtlteys skddfiagrp tttyklphrv
      181 dgtgfvvydg alffnkertr nivkfdlrtr iksgeaiian anyhdtspyr wggksdidla
      241 vdenglwviy ateqnngkiv isqlnpytlr iegtwdtayd krsasnafmi cgilyvvksv
      301 yedddneatg nkidyiyntd qskdslvdvp fpnsyqyiaa vdynprdnll yvwnnyhvvk
      361 ysldfgplds rsgqahhgqv syisppihld selerpsvkd isttgplgmg stttsttlrt
      421 ttlspgrstt psvsgrrnrs tstpspavev lddmtthlps assqipalee sceavearei
      481 mwfktrqgqi akqpcpagti gvstylclap dgiwdpqgpd lsncsspwvn hitqklksge
      541 taaniarela eqtrnhlnag ditysvramd qlvglldvql rnltpggkds aarslnklqk
      601 rerscrayvq amvetvnnll qpqalnawrd lttsdqlraa tmllhtvees afvladnllk
      661 tdivrentdn iklevarlst egnledlkfp enmghgstiq lsantlkqng rngeirvafv
      721 lynnlgpyls tenasmklgt ealstnhsvi vnspvitaai nkefsnkvyl adpvvftvkh
      781 ikqseenfnp ncsfwsyskr tmtgywstqg crllttnkth ttcscnhltn favlmahvev
      841 khsdavhdll ldvitwvgil lslvcllici ftfcffrglq sdrntihknl cislfvaell
      901 fliginrtdq piacavfaal lhffflaaft wmflegvqly imlvevfese hsrrkyfylv
      961 gygmpaliva vsaavdyrsy gtdkvcwlrl dtyfiwsfig patliimlnv iflgialykm
     1021 fhhtailkpe sgcldniksw vigaiallcl lgltwafglm yinestvima ylftifnslq
     1081 gmfififhcv lqkkvrkeyg kclrthccsg kstessigsg ktsgsrtpgr ystgsqsrir
     1141 rmwndtvrkq sessfitgdi nssaslnreg llnnardtsv mdtlplngnh gnsysiasge
     1201 ylsncvqiid rgynhnetal ekkilkelts nyipsylnnh ersseqnrnl mnklvnnlgs
     1261 greddaivld datsfnhees lglelihees dapllpprvy stenhqphhy trrripqdhs
     1321 esffplltne htedlqsphr dslytsmptl agvaatesvt tstqtepppa kcgdaedvyy
     1381 ksmpnlgsrn hvhqlhtyyq lgrgssdgfi vppnkdgtpp egsskgpahl vtsl
//
LOCUS       NP_001308875             163 aa            linear   PRI 23-MAR-2023
DEFINITION  fibroblast growth factor 14 isoform 2 [Homo sapiens].
ACCESSION   NP_001308875
VERSION     NP_001308875.1
DBSOURCE    REFSEQ: accession NM_001321946.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 163)
  AUTHORS   Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ,
            Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C,
            Jaunmuktane Z, Sonnen JA, Lariviere R, Genis D, Molina Porcel L,
            Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X,
            Tetreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M,
            Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk
            CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dube
            MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ,
            Saporta MA, Schule R, Schols L, La Piana R, Synofzik M, Zuchner S
            and Brais B.
  TITLE     Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar
            Ataxia
  JOURNAL   N Engl J Med 388 (2), 128-141 (2023)
   PUBMED   36516086
  REMARK    GeneRIF: Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset
            Cerebellar Ataxia.
REFERENCE   2  (residues 1 to 163)
  AUTHORS   Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG,
            Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo
            KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE,
            Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts
            LJ, Fogel BL, Bruggemann N, Lohmann K, Delatycki MB, Bahlo M and
            Lockhart PJ.
  TITLE     An intronic GAA repeat expansion in FGF14 causes the
            autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
  JOURNAL   Am J Hum Genet 110 (1), 105-119 (2023)
   PUBMED   36493768
  REMARK    GeneRIF: An intronic GAA repeat expansion in FGF14 causes the
            autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
REFERENCE   3  (residues 1 to 163)
  AUTHORS   Raja A, Malik MFA and Haq F.
  TITLE     Genomic relevance of FGF14 and associated genes on the prognosis of
            pancreatic cancer
  JOURNAL   PLoS One 16 (6), e0252344 (2021)
   PUBMED   34061869
  REMARK    GeneRIF: Genomic relevance of FGF14 and associated genes on the
            prognosis of pancreatic cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 163)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 163)
  AUTHORS   Cao Y, Jiang F, Zhang S, Yang L and Sun Y.
  TITLE     MEX3C promotes osteosarcoma malignant progression through
            negatively regulating FGF14
  JOURNAL   J BUON 25 (3), 1554-1561 (2020)
   PUBMED   32862604
  REMARK    GeneRIF: MEX3C promotes osteosarcoma malignant progression through
            negatively regulating FGF14.
REFERENCE   6  (residues 1 to 163)
  AUTHORS   van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R,
            de Koning I, Maat-Kievit A, Leegwater P, Dooijes D, Oostra BA and
            Heutink P.
  TITLE     A mutation in the fibroblast growth factor 14 gene is associated
            with autosomal dominant cerebellar ataxia [corrected]
  JOURNAL   Am J Hum Genet 72 (1), 191-199 (2003)
   PUBMED   12489043
  REMARK    GeneRIF: A mutation in the fibroblast growth factor 14 gene is
            associated with autosomal dominant cerebral ataxia
            Erratum:[Am J Hum Genet. 2003 Apr;72(4):1078]
REFERENCE   7  (residues 1 to 163)
  AUTHORS   Chumakov I, Blumenfeld M, Guerassimenko O, Cavarec L, Palicio M,
            Abderrahim H, Bougueleret L, Barry C, Tanaka H, La Rosa P, Puech A,
            Tahri N, Cohen-Akenine A, Delabrosse S, Lissarrague S, Picard FP,
            Maurice K, Essioux L, Millasseau P, Grel P, Debailleul V, Simon AM,
            Caterina D, Dufaure I, Malekzadeh K, Belova M, Luan JJ, Bouillot M,
            Sambucy JL, Primas G, Saumier M, Boubkiri N, Martin-Saumier S,
            Nasroune M, Peixoto H, Delaye A, Pinchot V, Bastucci M, Guillou S,
            Chevillon M, Sainz-Fuertes R, Meguenni S, Aurich-Costa J, Cherif D,
            Gimalac A, Van Duijn C, Gauvreau D, Ouellette G, Fortier I, Raelson
            J, Sherbatich T, Riazanskaia N, Rogaev E, Raeymaekers P, Aerssens
            J, Konings F, Luyten W, Macciardi F, Sham PC, Straub RE, Weinberger
            DR, Cohen N and Cohen D.
  TITLE     Genetic and physiological data implicating the new human gene G72
            and the gene for D-amino acid oxidase in schizophrenia
  JOURNAL   Proc Natl Acad Sci U S A 99 (21), 13675-13680 (2002)
   PUBMED   12364586
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Dec 24;99(26):17221.
            Ouelette, G [corrected to Ouellette, G]; Realson, J [corrected to
            Raelson, J]]
REFERENCE   8  (residues 1 to 163)
  AUTHORS   Wang Q, Bardgett ME, Wong M, Wozniak DF, Lou J, McNeil BD, Chen C,
            Nardi A, Reid DC, Yamada K and Ornitz DM.
  TITLE     Ataxia and paroxysmal dyskinesia in mice lacking axonally
            transported FGF14
  JOURNAL   Neuron 35 (1), 25-38 (2002)
   PUBMED   12123606
REFERENCE   9  (residues 1 to 163)
  AUTHORS   Smallwood PM, Munoz-Sanjuan I, Tong P, Macke JP, Hendry SH, Gilbert
            DJ, Copeland NG, Jenkins NA and Nathans J.
  TITLE     Fibroblast growth factor (FGF) homologous factors: new members of
            the FGF family implicated in nervous system development
  JOURNAL   Proc Natl Acad Sci U S A 93 (18), 9850-9857 (1996)
   PUBMED   8790420
REFERENCE   10 (residues 1 to 163)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356263.12, AL512629.7,
            AL591909.5 and AL160153.11.
            
            Summary: The protein encoded by this gene is a member of the
            fibroblast growth factor (FGF) family. FGF family members possess
            broad mitogenic and cell survival activities, and are involved in a
            variety of biological processes, including embryonic development,
            cell growth, morphogenesis, tissue repair, tumor growth and
            invasion. A mutation in this gene is associated with autosomal
            dominant cerebral ataxia. Alternatively spliced transcript variants
            have been found for this gene. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.113433.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2142586 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..163
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q33.1"
     Protein         1..163
                     /product="fibroblast growth factor 14 isoform 2"
                     /note="fibroblast growth factor homologous factor 4;
                     nystagmus 4, congenital autosomal dominant"
                     /calculated_mol_wt=17761
     Region          1..113
                     /region_name="FGF"
                     /note="Fibroblast growth factor; pfam00167"
                     /db_xref="CDD:425498"
     Site            order(23,25,27,55,63,66..71,73,111,113,115)
                     /site_type="active"
                     /note="receptor interaction site [active]"
                     /db_xref="CDD:238015"
     Site            order(92..93,98,102,108)
                     /site_type="other"
                     /note="heparin binding site (glycine box) [chemical
                     binding]"
                     /db_xref="CDD:238015"
     CDS             1..163
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /coded_by="NM_001321946.2:615..1106"
                     /note="isoform 2 is encoded by transcript variant 18"
                     /db_xref="GeneID:2259"
                     /db_xref="HGNC:HGNC:3671"
                     /db_xref="MIM:601515"
ORIGIN      
        1 mhpdgaldgt kddstnstlf nlipvglrvv aiqgvktgly iamngegyly pselftpeck
       61 fkesvfenyy viyssmlyrq qesgrawflg lnkegqamkg nrvkktkpaa hflpkpleva
      121 myrepslhdv getvpkpgvt pskstsasai mnggkpvnks ktt
//
LOCUS       NP_001356346             273 aa            linear   PRI 17-APR-2023
DEFINITION  DNA excision repair protein ERCC-1 isoform 3 [Homo sapiens].
ACCESSION   NP_001356346 XP_016881955
VERSION     NP_001356346.1
DBSOURCE    REFSEQ: accession NM_001369417.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 273)
  AUTHORS   Adico MDW, Zoure AA, Sombie HK, Kiendrebeogo TI, Dabre S, Amegnona
            LJ, Bakyono BS, Traore L, Ouedraogo TC, Ouedraogo RA, Zohoncon TM,
            Yonli AT, Bayala B, Bambara HA, Djigma FW and Simpore J.
  TITLE     Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793, rs13181)
            polymorphisms of DNA repair genes in breast cancer occurrence in
            Burkina Faso
  JOURNAL   Mol Genet Genomic Med 11 (4), e2134 (2023)
   PUBMED   36594475
  REMARK    GeneRIF: Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793,
            rs13181) polymorphisms of DNA repair genes in breast cancer
            occurrence in Burkina Faso.
REFERENCE   2  (residues 1 to 273)
  AUTHORS   Du P, Li G, Wu L and Huang M.
  TITLE     Perspectives of ERCC1 in early-stage and advanced cervical cancer:
            From experiments to clinical applications
  JOURNAL   Front Immunol 13, 1065379 (2023)
   PUBMED   36713431
  REMARK    GeneRIF: Perspectives of ERCC1 in early-stage and advanced cervical
            cancer: From experiments to clinical applications.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 273)
  AUTHORS   Benzeid R, Gihbid A, Tawfiq N, Benchakroun N, Bendahhou K, Benider
            A, Guensi A, El Benna N, Filali Maltouf A, Attaleb M, Chaoui I,
            Khyatti M and El Mzibri M.
  TITLE     Genetic Polymorphisms in ERCC1 Gene and Their Association with
            Response to Radiotherapy in Moroccan Patients with Nasopharyngeal
            Carcinoma
  JOURNAL   Asian Pac J Cancer Prev 24 (1), 93-99 (2023)
   PUBMED   36708557
  REMARK    GeneRIF: Genetic Polymorphisms in ERCC1 Gene and Their Association
            with Response to Radiotherapy in Moroccan Patients with
            Nasopharyngeal Carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 273)
  AUTHORS   Liu M, Qiu Z and Yang Q.
  TITLE     Association between ERCC1 Gene Polymorphism (rs11615) and
            Colorectal Cancer Susceptibility: A Meta-Analysis of Medical Image
            Fusion and Safety Applications
  JOURNAL   Comput Math Methods Med 2022, 9988513 (2022)
   PUBMED   36277013
  REMARK    GeneRIF: Association between ERCC1 Gene Polymorphism (rs11615) and
            Colorectal Cancer Susceptibility: A Meta-Analysis of Medical Image
            Fusion and Safety Applications.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 273)
  AUTHORS   Kraemer,K.H., DiGiovanna,J.J. and Tamura,D.
  TITLE     Xeroderma Pigmentosum
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301571
REFERENCE   6  (residues 1 to 273)
  AUTHORS   Liu P, Perryman MB, Liao W and Siciliano MJ.
  TITLE     Efficiency and limitations of the hn-cDNA library approach for the
            isolation of human transcribed genes from hybrid cells
  JOURNAL   Somat Cell Mol Genet 18 (1), 7-18 (1992)
   PUBMED   1372133
REFERENCE   7  (residues 1 to 273)
  AUTHORS   van Duin M, van Den Tol J, Hoeijmakers JH, Bootsma D, Rupp IP,
            Reynolds P, Prakash L and Prakash S.
  TITLE     Conserved pattern of antisense overlapping transcription in the
            homologous human ERCC-1 and yeast RAD10 DNA repair gene regions
  JOURNAL   Mol Cell Biol 9 (4), 1794-1798 (1989)
   PUBMED   2471070
REFERENCE   8  (residues 1 to 273)
  AUTHORS   Hoeijmakers JH.
  TITLE     Characterization of genes and proteins involved in excision repair
            of human cells
  JOURNAL   J Cell Sci Suppl 6, 111-125 (1987)
   PUBMED   2821019
REFERENCE   9  (residues 1 to 273)
  AUTHORS   van Duin,M., de Wit,J., Odijk,H., Westerveld,A., Yasui,A.,
            Koken,M.H., Hoeijmakers,J.H. and Bootsma,D.
  TITLE     Molecular characterization of the human excision repair gene
            ERCC-1: cDNA cloning and amino acid homology with the yeast DNA
            repair gene RAD10
  JOURNAL   Cell 44 (6), 913-923 (1986)
   PUBMED   2420469
REFERENCE   10 (residues 1 to 273)
  AUTHORS   Westerveld,A., Hoeijmakers,J.H., van Duin,M., de Wit,J., Odijk,H.,
            Pastink,A., Wood,R.D. and Bootsma,D.
  TITLE     Molecular cloning of a human DNA repair gene
  JOURNAL   Nature 310 (5976), 425-429 (1984)
   PUBMED   6462228
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC138128.1, AC139353.3 and
            AC092309.3.
            On Apr 9, 2019 this sequence version replaced XP_016881955.1.
            
            Summary: The product of this gene functions in the nucleotide
            excision repair pathway, and is required for the repair of DNA
            lesions such as those induced by UV light or formed by
            electrophilic compounds including cisplatin. The encoded protein
            forms a heterodimer with the XPF endonuclease (also known as
            ERCC4), and the heterodimeric endonuclease catalyzes the 5'
            incision in the process of excising the DNA lesion. The
            heterodimeric endonuclease is also involved in recombinational DNA
            repair and in the repair of inter-strand crosslinks. Mutations in
            this gene result in cerebrooculofacioskeletal syndrome, and
            polymorphisms that alter expression of this gene may play a role in
            carcinogenesis. Multiple transcript variants encoding different
            isoforms have been found for this gene. The last exon of this gene
            overlaps with the CD3e molecule, epsilon associated protein gene on
            the opposite strand. [provided by RefSeq, Oct 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.299199.1,
                                           SRR14038194.191105.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..273
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     Protein         1..273
                     /product="DNA excision repair protein ERCC-1 isoform 3"
                     /note="DNA excision repair protein ERCC-1; excision repair
                     cross-complementation group 1; excision repair
                     cross-complementing rodent repair deficiency,
                     complementation group 1 (includes overlapping antisense
                     sequence)"
                     /calculated_mol_wt=29862
     Region          99..226
                     /region_name="ERCC1_C-like"
                     /note="Central domain of ERCC1; cd22325"
                     /db_xref="CDD:411729"
     Site            order(117..119,166,179,183,186,189..190,193..198,200,204,
                     207..208,210..212,214..216,218..219,221..222)
                     /site_type="other"
                     /note="XPF interaction interface [polypeptide binding]"
                     /db_xref="CDD:411729"
     Region          235..264
                     /region_name="HHH"
                     /note="Helix-hairpin-helix motif; pfam00633"
                     /db_xref="CDD:425789"
     CDS             1..273
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /coded_by="NM_001369417.1:206..1027"
                     /note="isoform 3 is encoded by transcript variant 13"
                     /db_xref="CCDS:CCDS54279.1"
                     /db_xref="GeneID:2067"
                     /db_xref="HGNC:HGNC:3433"
                     /db_xref="MIM:126380"
ORIGIN      
        1 mdpgkdkegv pqpsgppark kfvipldede vppgvakplf rstqslptvd tsaqaapqty
       61 aeyaisqple gagatcptgs eplagetpnq alkpgaksns iivsprqrgn pvlkfvrnvp
      121 wefgdvipdy vlgqstcalf lslryhnlhp dyihgrlqsl gknfalrvll vqvdvkdpqq
      181 alkelakmci ladctlilaw speeagryle tykayeqkpa dllmekleqd fvsrsleqli
      241 aasredlalc pglgpqkarr lfdvlhepfl kvp
//
LOCUS       NP_001356340             299 aa            linear   PRI 17-APR-2023
DEFINITION  DNA excision repair protein ERCC-1 isoform 4 [Homo sapiens].
ACCESSION   NP_001356340
VERSION     NP_001356340.1
DBSOURCE    REFSEQ: accession NM_001369411.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 299)
  AUTHORS   Adico MDW, Zoure AA, Sombie HK, Kiendrebeogo TI, Dabre S, Amegnona
            LJ, Bakyono BS, Traore L, Ouedraogo TC, Ouedraogo RA, Zohoncon TM,
            Yonli AT, Bayala B, Bambara HA, Djigma FW and Simpore J.
  TITLE     Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793, rs13181)
            polymorphisms of DNA repair genes in breast cancer occurrence in
            Burkina Faso
  JOURNAL   Mol Genet Genomic Med 11 (4), e2134 (2023)
   PUBMED   36594475
  REMARK    GeneRIF: Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793,
            rs13181) polymorphisms of DNA repair genes in breast cancer
            occurrence in Burkina Faso.
REFERENCE   2  (residues 1 to 299)
  AUTHORS   Du P, Li G, Wu L and Huang M.
  TITLE     Perspectives of ERCC1 in early-stage and advanced cervical cancer:
            From experiments to clinical applications
  JOURNAL   Front Immunol 13, 1065379 (2023)
   PUBMED   36713431
  REMARK    GeneRIF: Perspectives of ERCC1 in early-stage and advanced cervical
            cancer: From experiments to clinical applications.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 299)
  AUTHORS   Benzeid R, Gihbid A, Tawfiq N, Benchakroun N, Bendahhou K, Benider
            A, Guensi A, El Benna N, Filali Maltouf A, Attaleb M, Chaoui I,
            Khyatti M and El Mzibri M.
  TITLE     Genetic Polymorphisms in ERCC1 Gene and Their Association with
            Response to Radiotherapy in Moroccan Patients with Nasopharyngeal
            Carcinoma
  JOURNAL   Asian Pac J Cancer Prev 24 (1), 93-99 (2023)
   PUBMED   36708557
  REMARK    GeneRIF: Genetic Polymorphisms in ERCC1 Gene and Their Association
            with Response to Radiotherapy in Moroccan Patients with
            Nasopharyngeal Carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 299)
  AUTHORS   Liu M, Qiu Z and Yang Q.
  TITLE     Association between ERCC1 Gene Polymorphism (rs11615) and
            Colorectal Cancer Susceptibility: A Meta-Analysis of Medical Image
            Fusion and Safety Applications
  JOURNAL   Comput Math Methods Med 2022, 9988513 (2022)
   PUBMED   36277013
  REMARK    GeneRIF: Association between ERCC1 Gene Polymorphism (rs11615) and
            Colorectal Cancer Susceptibility: A Meta-Analysis of Medical Image
            Fusion and Safety Applications.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 299)
  AUTHORS   Kraemer,K.H., DiGiovanna,J.J. and Tamura,D.
  TITLE     Xeroderma Pigmentosum
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301571
REFERENCE   6  (residues 1 to 299)
  AUTHORS   Liu P, Perryman MB, Liao W and Siciliano MJ.
  TITLE     Efficiency and limitations of the hn-cDNA library approach for the
            isolation of human transcribed genes from hybrid cells
  JOURNAL   Somat Cell Mol Genet 18 (1), 7-18 (1992)
   PUBMED   1372133
REFERENCE   7  (residues 1 to 299)
  AUTHORS   van Duin M, van Den Tol J, Hoeijmakers JH, Bootsma D, Rupp IP,
            Reynolds P, Prakash L and Prakash S.
  TITLE     Conserved pattern of antisense overlapping transcription in the
            homologous human ERCC-1 and yeast RAD10 DNA repair gene regions
  JOURNAL   Mol Cell Biol 9 (4), 1794-1798 (1989)
   PUBMED   2471070
REFERENCE   8  (residues 1 to 299)
  AUTHORS   Hoeijmakers JH.
  TITLE     Characterization of genes and proteins involved in excision repair
            of human cells
  JOURNAL   J Cell Sci Suppl 6, 111-125 (1987)
   PUBMED   2821019
REFERENCE   9  (residues 1 to 299)
  AUTHORS   van Duin,M., de Wit,J., Odijk,H., Westerveld,A., Yasui,A.,
            Koken,M.H., Hoeijmakers,J.H. and Bootsma,D.
  TITLE     Molecular characterization of the human excision repair gene
            ERCC-1: cDNA cloning and amino acid homology with the yeast DNA
            repair gene RAD10
  JOURNAL   Cell 44 (6), 913-923 (1986)
   PUBMED   2420469
REFERENCE   10 (residues 1 to 299)
  AUTHORS   Westerveld,A., Hoeijmakers,J.H., van Duin,M., de Wit,J., Odijk,H.,
            Pastink,A., Wood,R.D. and Bootsma,D.
  TITLE     Molecular cloning of a human DNA repair gene
  JOURNAL   Nature 310 (5976), 425-429 (1984)
   PUBMED   6462228
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139353.3.
            
            Summary: The product of this gene functions in the nucleotide
            excision repair pathway, and is required for the repair of DNA
            lesions such as those induced by UV light or formed by
            electrophilic compounds including cisplatin. The encoded protein
            forms a heterodimer with the XPF endonuclease (also known as
            ERCC4), and the heterodimeric endonuclease catalyzes the 5'
            incision in the process of excising the DNA lesion. The
            heterodimeric endonuclease is also involved in recombinational DNA
            repair and in the repair of inter-strand crosslinks. Mutations in
            this gene result in cerebrooculofacioskeletal syndrome, and
            polymorphisms that alter expression of this gene may play a role in
            carcinogenesis. Multiple transcript variants encoding different
            isoforms have been found for this gene. The last exon of this gene
            overlaps with the CD3e molecule, epsilon associated protein gene on
            the opposite strand. [provided by RefSeq, Oct 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR736697.1, BX097972.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..299
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     Protein         1..299
                     /product="DNA excision repair protein ERCC-1 isoform 4"
                     /note="DNA excision repair protein ERCC-1; excision repair
                     cross-complementation group 1; excision repair
                     cross-complementing rodent repair deficiency,
                     complementation group 1 (includes overlapping antisense
                     sequence)"
                     /calculated_mol_wt=32863
     Region          99..226
                     /region_name="ERCC1_C-like"
                     /note="Central domain of ERCC1; cd22325"
                     /db_xref="CDD:411729"
     Site            order(117..119,166,179,183,186,189..190,193..198,200,204,
                     207..208,210..212,214..216,218..219,221..222)
                     /site_type="other"
                     /note="XPF interaction interface [polypeptide binding]"
                     /db_xref="CDD:411729"
     Region          235..261
                     /region_name="HHH"
                     /note="Helix-hairpin-helix motif; pfam00633"
                     /db_xref="CDD:425789"
     CDS             1..299
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /coded_by="NM_001369411.1:155..1054"
                     /note="isoform 4 is encoded by transcript variant 7"
                     /db_xref="GeneID:2067"
                     /db_xref="HGNC:HGNC:3433"
                     /db_xref="MIM:126380"
ORIGIN      
        1 mdpgkdkegv pqpsgppark kfvipldede vppgvakplf rstqslptvd tsaqaapqty
       61 aeyaisqple gagatcptgs eplagetpnq alkpgaksns iivsprqrgn pvlkfvrnvp
      121 wefgdvipdy vlgqstcalf lslryhnlhp dyihgrlqsl gknfalrvll vqvdvkdpqq
      181 alkelakmci ladctlilaw speeagryle tykayeqkpa dllmekleqd fvsrsleqli
      241 aasredlalc pglgpqkvra lgknprswgk erapnkhnlr pqsfkvkkep ktrhsgfrl
//
LOCUS       NP_001356389             566 aa            linear   PRI 17-APR-2023
DEFINITION  nuclear factor 1 B-type isoform 7 [Homo sapiens].
ACCESSION   NP_001356389 XP_005251525
VERSION     NP_001356389.1
DBSOURCE    REFSEQ: accession NM_001369460.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 566)
  AUTHORS   Gana S, Serpieri V, Giorgio E, Iorio M, Rognone E, Pichiecchio A,
            Chiappedi M and Valente EM.
  TITLE     Marked intrafamilial variability of clinical and neuroimaging
            manifestations in NFIB-related developmental disorder
  JOURNAL   Am J Med Genet A 191 (5), 1395-1400 (2023)
   PUBMED   36756855
  REMARK    GeneRIF: Marked intrafamilial variability of clinical and
            neuroimaging manifestations in NFIB-related developmental disorder.
REFERENCE   2  (residues 1 to 566)
  AUTHORS   Zhou L, Mao LH, Li X, Wang QL, Chen SY, Chen ZJ, Lei J, Liu HT,
            Liao SQ, Ran T, Li XQ, Zhou ZH and He S.
  TITLE     Transcriptional regulation of NDUFA4L2 by NFIB induces sorafenib
            resistance by decreasing reactive oxygen species in hepatocellular
            carcinoma
  JOURNAL   Cancer Sci 114 (3), 793-805 (2023)
   PUBMED   36369883
  REMARK    GeneRIF: Transcriptional regulation of NDUFA4L2 by NFIB induces
            sorafenib resistance by decreasing reactive oxygen species in
            hepatocellular carcinoma.
REFERENCE   3  (residues 1 to 566)
  AUTHORS   Sheng H and Wang X.
  TITLE     Knockdown of circ-PIP5K1A overcomes resistance to cisplatin in
            ovarian cancer by miR-942-5p/NFIB axis
  JOURNAL   Anticancer Drugs 34 (2), 214-226 (2023)
   PUBMED   36730637
  REMARK    GeneRIF: Knockdown of circ-PIP5K1A overcomes resistance to
            cisplatin in ovarian cancer by miR-942-5p/NFIB axis.
REFERENCE   4  (residues 1 to 566)
  AUTHORS   Lenk HC, Lovsletten Smith R, O'Connell KS, Jukic MM, Kringen MK,
            Andreassen OA, Ingelman-Sundberg M and Molden E.
  TITLE     Impact of NFIB and CYP1A variants on clozapine serum
            concentration-A retrospective naturalistic cohort study on 526
            patients with known smoking habits
  JOURNAL   Clin Transl Sci 16 (1), 62-72 (2023)
   PUBMED   36152308
  REMARK    GeneRIF: Impact of NFIB and CYP1A variants on clozapine serum
            concentration-A retrospective naturalistic cohort study on 526
            patients with known smoking habits.
REFERENCE   5  (residues 1 to 566)
  AUTHORS   Lou C, Shi J and Xu Q.
  TITLE     Exosomal miR-626 promotes the malignant behavior of oral cancer
            cells by targeting NFIB
  JOURNAL   Mol Biol Rep 49 (6), 4829-4840 (2022)
   PUBMED   35711020
  REMARK    GeneRIF: Exosomal miR-626 promotes the malignant behavior of oral
            cancer cells by targeting NFIB.
REFERENCE   6  (residues 1 to 566)
  AUTHORS   Mukhopadhyay SS and Rosen JM.
  TITLE     The C-terminal domain of the nuclear factor I-B2 isoform is
            glycosylated and transactivates the WAP gene in the JEG-3 cells
  JOURNAL   Biochem Biophys Res Commun 358 (3), 770-776 (2007)
   PUBMED   17511965
  REMARK    GeneRIF: C-terminal domain of the nuclear factor I-B2 isoform is
            glycosylated and transactivates the WAP gene in tumor cells
REFERENCE   7  (residues 1 to 566)
  AUTHORS   Sheeter D, Du P, Rought S, Richman D and Corbeil J.
  TITLE     Surface CD4 expression modulated by a cellular factor induced by
            HIV type 1 infection
  JOURNAL   AIDS Res Hum Retroviruses 19 (2), 117-123 (2003)
   PUBMED   12639247
  REMARK    GeneRIF: expression of NFI-B2 impairs CD4 transcription on
            CDd4-positive primary T-lymphocytes and cell lines in HIV-1
            infection
REFERENCE   8  (residues 1 to 566)
  AUTHORS   Geurts JM, Schoenmakers EF, Roijer E, Astrom AK, Stenman G and van
            de Ven WJ.
  TITLE     Identification of NFIB as recurrent translocation partner gene of
            HMGIC in pleomorphic adenomas
  JOURNAL   Oncogene 16 (7), 865-872 (1998)
   PUBMED   9484777
REFERENCE   9  (residues 1 to 566)
  AUTHORS   Liu Y, Bernard HU and Apt D.
  TITLE     NFI-B3, a novel transcriptional repressor of the nuclear factor I
            family, is generated by alternative RNA processing
  JOURNAL   J Biol Chem 272 (16), 10739-10745 (1997)
   PUBMED   9099724
REFERENCE   10 (residues 1 to 566)
  AUTHORS   Qian F, Kruse U, Lichter P and Sippel AE.
  TITLE     Chromosomal localization of the four genes (NFIA, B, C, and X) for
            the human transcription factor nuclear factor I by FISH
  JOURNAL   Genomics 28 (1), 66-73 (1995)
   PUBMED   7590749
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL136366.24 and AL441963.7.
            On Apr 9, 2019 this sequence version replaced XP_005251525.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1459487.1,
                                           SRR14038193.4441972.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..566
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p23-p22.3"
     Protein         1..566
                     /product="nuclear factor 1 B-type isoform 7"
                     /note="nuclear factor 1 B-type; nuclear factor 1/B;
                     TGGCA-binding protein; CCAAT-box-binding transcription
                     factor"
                     /calculated_mol_wt=62845
     Region          3..43
                     /region_name="NfI_DNAbd_pre-N"
                     /note="Nuclear factor I protein pre-N-terminus; pfam10524"
                     /db_xref="CDD:371114"
     Region          65..169
                     /region_name="MH1"
                     /note="N-terminal Mad Homology 1 (MH1) domain; cl00055"
                     /db_xref="CDD:412134"
     Region          185..204
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00712.2)"
     Region          205..494
                     /region_name="CTF_NFI"
                     /note="CTF/NF-I family transcription modulation region;
                     pfam00859"
                     /db_xref="CDD:425913"
     Region          248..360
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00712.2)"
     Site            260
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Site            282
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P97863; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Site            288
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Site            291
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Site            308
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Site            324
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O00712.2)"
     Site            329
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Site            331
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:P97863; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Site            384
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:P97863; propagated from
                     UniProtKB/Swiss-Prot (O00712.2)"
     Region          393..401
                     /region_name="9aaTAD.
                     /evidence=ECO:0000269|PubMed:31375868"
                     /note="propagated from UniProtKB/Swiss-Prot (O00712.2)"
     CDS             1..566
                     /gene="NFIB"
                     /gene_synonym="CTF; HMGIC/NFIB; MACID; NF-I/B; NF1-B;
                     NFI-B; NFI-RED; NFIB2; NFIB3"
                     /coded_by="NM_001369460.1:430..2130"
                     /note="isoform 7 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS94389.1"
                     /db_xref="GeneID:4781"
                     /db_xref="HGNC:HGNC:7785"
                     /db_xref="MIM:600728"
ORIGIN      
        1 mqysamdefh pfieallphv raiaytwfnl qarkrkyfkk hekrmskdee ravkdellse
       61 kpeikqkwas rllaklrkdi rqeyredfvl tvtgkkhpcc vlsnpdqkgk irridclrqa
      121 dkvwrldlvm vilfkgiple stdgerlmks phctnpalcv qphhitvsvk eldlflayyv
      181 qeqdsgqsgs pshndpaknp pgyledsfvk sgvfnvselv rvsrtpitqg tgvnfpigei
      241 psqpyyhdmn sgvnlqrsls sppsskrpkt isidenmeps ptgdfypsps spaagsrtwh
      301 erdqdmsspt tmkkpekplf ssaspqdssp rlstfpqhhh pgipgvahsv istrtpppps
      361 plpfptqail ppapssyfsh ptirypphln pqdtlknyvp sydpsspqts qpngsgqvvg
      421 kvpghftpvl apsphpsavr pvtlsmtdtk pittstegea asptattyta sgtsqanryv
      481 glsprdpsfl hqqqlricdw tmnqngrhly pstsedtlgi twqspgtwas lvpfqvsnrt
      541 pilpanvqny glniigepfl qaetsn
//
LOCUS       NP_001158013             695 aa            linear   PRI 14-DEC-2022
DEFINITION  disrupted in schizophrenia 1 protein isoform e [Homo sapiens].
ACCESSION   NP_001158013
VERSION     NP_001158013.1
DBSOURCE    REFSEQ: accession NM_001164541.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 695)
  AUTHORS   Li W, Jiang H, Chen X, Yang K, Deng X, Tang Z, Hu Z, Zhang X, Lin
            S, Zou Y and Wu H.
  TITLE     The variants in PTPRB, TRAF3IP3, and DISC1 genes were associated
            with Graves' disease in the Chinese population
  JOURNAL   Medicine (Baltimore) 101 (45), e31501 (2022)
   PUBMED   36397361
  REMARK    GeneRIF: The variants in PTPRB, TRAF3IP3, and DISC1 genes were
            associated with Graves' disease in the Chinese population.
REFERENCE   2  (residues 1 to 695)
  AUTHORS   Wang AL, Chao OY, Nikolaus S, Lamounier-Zepter V, Hollenberg CP,
            Lubec G, Trossbach SV, Korth C and Huston JP.
  TITLE     Disrupted-in-schizophrenia 1 Protein Misassembly Impairs Cognitive
            Flexibility and Social Behaviors in a Transgenic Rat Model
  JOURNAL   Neuroscience 493, 41-51 (2022)
   PUBMED   35461978
  REMARK    GeneRIF: Disrupted-in-schizophrenia 1 Protein Misassembly Impairs
            Cognitive Flexibility and Social Behaviors in a Transgenic Rat
            Model.
REFERENCE   3  (residues 1 to 695)
  AUTHORS   Fricke-Galindo I, Perez-Aldana BE, Macias-Kauffer LR,
            Gonzalez-Arredondo S, Davila-Ortiz de Montellano D, Avina-Cervantes
            CL, Lopez-Lopez M, Rodriguez-Agudelo Y and Monroy-Jaramillo N.
  TITLE     Impact of COMT, PRODH and DISC1 Genetic Variants on Cognitive
            Performance of Patients with Schizophrenia
  JOURNAL   Arch Med Res 53 (4), 388-398 (2022)
   PUBMED   35367090
  REMARK    GeneRIF: Impact of COMT, PRODH and DISC1 Genetic Variants on
            Cognitive Performance of Patients with Schizophrenia.
REFERENCE   4  (residues 1 to 695)
  AUTHORS   Guardiola-Ripoll M, Sotero-Moreno A, Almodovar-Paya C, Hostalet N,
            Guerrero-Pedraza A, Ramiro N, Ortiz-Gil J, Arias B, Madre M,
            Soler-Vidal J, Salvador R, McKenna PJ, Pomarol-Clotet E and
            Fatjo-Vilas M.
  TITLE     Combining fMRI and DISC1 gene haplotypes to understand working
            memory-related brain activity in schizophrenia
  JOURNAL   Sci Rep 12 (1), 7351 (2022)
   PUBMED   35513527
  REMARK    GeneRIF: Combining fMRI and DISC1 gene haplotypes to understand
            working memory-related brain activity in schizophrenia.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 695)
  AUTHORS   Wang J, Su P, Yang J, Xu L, Yuan A, Li C, Zhang T, Dong F, Zhou J,
            Samsom J, Wong AHC and Liu F.
  TITLE     The D2R-DISC1 protein complex and associated proteins are altered
            in schizophrenia and normalized with antipsychotic treatment
  JOURNAL   J Psychiatry Neurosci 47 (2), E134-E147 (2022)
   PUBMED   35361701
  REMARK    GeneRIF: The D2R-DISC1 protein complex and associated proteins are
            altered in schizophrenia and normalized with antipsychotic
            treatment.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 695)
  AUTHORS   Ozeki Y, Tomoda T, Kleiderlein J, Kamiya A, Bord L, Fujii K, Okawa
            M, Yamada N, Hatten ME, Snyder SH, Ross CA and Sawa A.
  TITLE     Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents
            binding to NudE-like (NUDEL) and inhibits neurite outgrowth
  JOURNAL   Proc Natl Acad Sci U S A 100 (1), 289-294 (2003)
   PUBMED   12506198
  REMARK    GeneRIF: Mutant truncation prevents binding to NudE-like (NUDEL)
            and inhibits neurite outgrowth
            Erratum:[Proc Natl Acad Sci U S A. 2004 Sep 21;101(38):13969]
REFERENCE   7  (residues 1 to 695)
  AUTHORS   Blackwood DH, Fordyce A, Walker MT, St Clair DM, Porteous DJ and
            Muir WJ.
  TITLE     Schizophrenia and affective disorders--cosegregation with a
            translocation at chromosome 1q42 that directly disrupts
            brain-expressed genes: clinical and P300 findings in a family
  JOURNAL   Am J Hum Genet 69 (2), 428-433 (2001)
   PUBMED   11443544
REFERENCE   8  (residues 1 to 695)
  AUTHORS   Ekelund J, Hovatta I, Parker A, Paunio T, Varilo T, Martin R,
            Suhonen J, Ellonen P, Chan G, Sinsheimer JS, Sobel E, Juvonen H,
            Arajarvi R, Partonen T, Suvisaari J, Lonnqvist J, Meyer J and
            Peltonen L.
  TITLE     Chromosome 1 loci in Finnish schizophrenia families
  JOURNAL   Hum Mol Genet 10 (15), 1611-1617 (2001)
   PUBMED   11468279
REFERENCE   9  (residues 1 to 695)
  AUTHORS   Millar JK, Christie S, Semple CA and Porteous DJ.
  TITLE     Chromosomal location and genomic structure of the human
            translin-associated factor X gene (TRAX; TSNAX) revealed by
            intergenic splicing to DISC1, a gene disrupted by a translocation
            segregating with schizophrenia
  JOURNAL   Genomics 67 (1), 69-77 (2000)
   PUBMED   10945471
REFERENCE   10 (residues 1 to 695)
  AUTHORS   Millar JK, Wilson-Annan JC, Anderson S, Christie S, Taylor MS,
            Semple CA, Devon RS, St Clair DM, Muir WJ, Blackwood DH and
            Porteous DJ.
  TITLE     Disruption of two novel genes by a translocation co-segregating
            with schizophrenia
  JOURNAL   Hum Mol Genet 9 (9), 1415-1423 (2000)
   PUBMED   10814723
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL626763.11, FJ804186.1 and
            BC142622.1.
            
            Summary: This gene encodes a protein with multiple coiled coil
            motifs which is located in the nucleus, cytoplasm and mitochondria.
            The protein is involved in neurite outgrowth and cortical
            development through its interaction with other proteins. This gene
            is disrupted in a t(1;11)(q42.1;q14.3) translocation which
            segregates with schizophrenia and related psychiatric disorders in
            a large Scottish family. Alternate transcriptional splice variants,
            encoding different isoforms, have been characterized. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (e) lacks an internal exon and two
            end exons in the 3' region, but has an alternate 3' segment, as
            compared to variant L. The resulting isoform (e, also known as
            isoform 15) lacks an internal segment, and has a distinct and
            shorter C-terminus, as compared to isoform L.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: FJ804186.1, SRR1803612.101134.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..695
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.2"
     Protein         1..695
                     /product="disrupted in schizophrenia 1 protein isoform e"
                     /note="disrupted in schizophrenia 1 protein"
                     /calculated_mol_wt=75403
     Region          <337..659
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..695
                     /gene="DISC1"
                     /gene_synonym="C1orf136; SCZD9"
                     /coded_by="NM_001164541.2:79..2166"
                     /note="isoform e is encoded by transcript variant e"
                     /db_xref="CCDS:CCDS53483.1"
                     /db_xref="GeneID:27185"
                     /db_xref="HGNC:HGNC:2888"
                     /db_xref="MIM:605210"
ORIGIN      
        1 mpgggpqgap aaaggggvsh ragsrdclpp aacfrrrrla rrpgymrsst gpgigflspa
       61 vgtlfrfpgg vsgeeshhse srarqcglds rgllvrspvs ksaaaptvts vrgtsahfgi
      121 qlrggtrlpd rlswpcgpgs agwqqefaam dssetldasw eaacsdgarr vraagslpsa
      181 elssnscspg cgpevpptpp gshsaftssf sfirlslgsa gergeaegcp psreaeshcq
      241 spqemgakaa sldgphedpr clsrpfslla trvsadlaqa arnssrperd mhslpdmdpg
      301 ssssldpsla gcggdgssgs gdahswdtll rkwepvlrdc llrnrrqmev islrlklqkl
      361 qedavenddy dkaetlqqrl edleqekisl hfqlpsrqpa lssflghlaa qvqaalrrga
      421 tqqasgddth tplrmeprll eptaqdslhv sitrrdwllq ekqqlqkeie alqarmfvle
      481 akdqqlrrei eeqeqqlqwq gcdltplvgq lslgqlqevs kalqdtlasa gqipfhaepp
      541 etirslqeri kslnlslkei ttkvcmsekf cstlrkkvnd ietqlpalle akmhaisgnh
      601 fwtakdltee irsltsereg legllskllv lssrnvkklg svkedynrlr revehqetay
      661 aasvhclgkc gkltwklvdc lsrayssrkp geacl
//
LOCUS       NP_056216                991 aa            linear   PRI 18-DEC-2022
DEFINITION  histone deacetylase 7 isoform a [Homo sapiens].
ACCESSION   NP_056216 NP_001091885
VERSION     NP_056216.2
DBSOURCE    REFSEQ: accession NM_015401.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 991)
  AUTHORS   Ma ZQ, Feng YT, Guo K, Liu D, Shao CJ, Pan MH, Zhang YM, Zhang YX,
            Lu D, Huang D, Zhang F, Wang JL, Yang B, Han J, Yan XL and Hu Y.
  TITLE     Melatonin inhibits ESCC tumor growth by mitigating the
            HDAC7/beta-catenin/c-Myc positive feedback loop and suppressing the
            USP10-maintained HDAC7 protein stability
  JOURNAL   Mil Med Res 9 (1), 54 (2022)
   PUBMED   36163081
  REMARK    GeneRIF: Melatonin inhibits ESCC tumor growth by mitigating the
            HDAC7/beta-catenin/c-Myc positive feedback loop and suppressing the
            USP10-maintained HDAC7 protein stability.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 991)
  AUTHORS   Feng Y, Ma Z, Pan M, Xu L, Feng J, Zhang Y, Shao C, Guo K, Duan H,
            Zhang Y, Zhang Y, Zhang J, Lu D, Ren X, Han J, Li X and Yan X.
  TITLE     WNT5A promotes the metastasis of esophageal squamous cell carcinoma
            by activating the HDAC7/SNAIL signaling pathway
  JOURNAL   Cell Death Dis 13 (5), 480 (2022)
   PUBMED   35595735
  REMARK    GeneRIF: WNT5A promotes the metastasis of esophageal squamous cell
            carcinoma by activating the HDAC7/SNAIL signaling pathway.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 991)
  AUTHORS   Hua HS, Wen HC, Weng CM, Lee HS, Chen BC and Lin CH.
  TITLE     Histone deacetylase 7 mediates endothelin-1-induced connective
            tissue growth factor expression in human lung fibroblasts through
            p300 and activator protein-1 activation
  JOURNAL   J Biomed Sci 28 (1), 38 (2021)
   PUBMED   34011384
  REMARK    GeneRIF: Histone deacetylase 7 mediates endothelin-1-induced
            connective tissue growth factor expression in human lung
            fibroblasts through p300 and activator protein-1 activation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 991)
  AUTHORS   Giorgio ED, Cutano V, Minisini M, Tolotto V, Dalla E and Brancolini
            C.
  TITLE     A regulative epigenetic circuit supervised by HDAC7 represses
            IGFBP6 and IGFBP7 expression to sustain mammary stemness
  JOURNAL   Epigenomics 13 (9), 683-698 (2021)
   PUBMED   33878891
  REMARK    GeneRIF: A regulative epigenetic circuit supervised by HDAC7
            represses IGFBP6 and IGFBP7 expression to sustain mammary stemness.
REFERENCE   5  (residues 1 to 991)
  AUTHORS   Uzelac B, Krivokuca A, Susnjar S, Milovanovic Z and Supic G.
  TITLE     Histone Deacetylase 7 Gene Overexpression Is Associated with Poor
            Prognosis of Triple-Negative Breast Cancer Patients
  JOURNAL   Genet Test Mol Biomarkers 25 (3), 227-235 (2021)
   PUBMED   33734898
  REMARK    GeneRIF: Histone Deacetylase 7 Gene Overexpression Is Associated
            with Poor Prognosis of Triple-Negative Breast Cancer Patients.
REFERENCE   6  (residues 1 to 991)
  AUTHORS   Lemercier C, Brocard MP, Puvion-Dutilleul F, Kao HY, Albagli O and
            Khochbin S.
  TITLE     Class II histone deacetylases are directly recruited by BCL6
            transcriptional repressor
  JOURNAL   J Biol Chem 277 (24), 22045-22052 (2002)
   PUBMED   11929873
  REMARK    GeneRIF: Class II histone deacetylases are directly recruited by
            BCL6 transcriptional repressor
REFERENCE   7  (residues 1 to 991)
  AUTHORS   Fischle W, Dequiedt F, Fillion M, Hendzel MJ, Voelter W and Verdin
            E.
  TITLE     Human HDAC7 histone deacetylase activity is associated with HDAC3
            in vivo
  JOURNAL   J Biol Chem 276 (38), 35826-35835 (2001)
   PUBMED   11466315
REFERENCE   8  (residues 1 to 991)
  AUTHORS   Lee HJ, Chun M and Kandror KV.
  TITLE     Tip60 and HDAC7 interact with the endothelin receptor a and may be
            involved in downstream signaling
  JOURNAL   J Biol Chem 276 (20), 16597-16600 (2001)
   PUBMED   11262386
REFERENCE   9  (residues 1 to 991)
  AUTHORS   Marks PA, Richon VM and Rifkind RA.
  TITLE     Histone deacetylase inhibitors: inducers of differentiation or
            apoptosis of transformed cells
  JOURNAL   J Natl Cancer Inst 92 (15), 1210-1216 (2000)
   PUBMED   10922406
  REMARK    Review article
REFERENCE   10 (residues 1 to 991)
  AUTHORS   Kao HY, Downes M, Ordentlich P and Evans RM.
  TITLE     Isolation of a novel histone deacetylase reveals that class I and
            class II deacetylases promote SMRT-mediated repression
  JOURNAL   Genes Dev 14 (1), 55-66 (2000)
   PUBMED   10640276
  REMARK    GeneRIF: Characterization of the mouse HDAC7 ortholog.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC376749.1, AY302468.1 and
            BC020505.2.
            On or before Mar 1, 2008 this sequence version replaced
            NP_001091885.1, NP_056216.1.
            
            Summary: Histones play a critical role in transcriptional
            regulation, cell cycle progression, and developmental events.
            Histone acetylation/deacetylation alters chromosome structure and
            affects transcription factor access to DNA. The protein encoded by
            this gene has sequence homology to members of the histone
            deacetylase family. This gene is orthologous to mouse HDAC7 gene
            whose protein promotes repression mediated via the transcriptional
            corepressor SMRT. Alternatively spliced transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1, also known as variant 3)
            encodes isoform a (also known as isoform c).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK299292.1, AY302468.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000080059.12/ ENSP00000080059.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..991
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.11"
     Protein         1..991
                     /product="histone deacetylase 7 isoform a"
                     /EC_number="3.5.1.98"
                     /note="histone deacetylase 7A"
                     /calculated_mol_wt=106610
     Region          557..934
                     /region_name="HDAC7"
                     /note="Histone deacetylase 7; cd10008"
                     /db_xref="CDD:212532"
     Site            order(581,665,708..709,717..718,746,748,777,840,848..849,
                     880)
                     /site_type="active"
                     /db_xref="CDD:212532"
     Site            order(746,748,840)
                     /site_type="other"
                     /note="Zn binding site 1 [ion binding]"
                     /db_xref="CDD:212532"
     CDS             1..991
                     /gene="HDAC7"
                     /gene_synonym="HD7; HD7A; HDAC7A"
                     /coded_by="NM_015401.5:119..3094"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS8756.2"
                     /db_xref="GeneID:51564"
                     /db_xref="HGNC:HGNC:14067"
                     /db_xref="MIM:606542"
ORIGIN      
        1 mhspgadgtq vspgahycsp tgagcprpca dtpgpqpqpm dlrvgqrppv epppeptlla
       61 lqrpqrlhhh lflaglqqqr svepmrlsmd tpmpelqvgp qeqelrqllh kdkskrsava
      121 ssvvkqklae vilkkqqaal ertvhpnspg ipyrtleple tegatrsmls sflppvpslp
      181 sdppehfplr ktvsepnlkl rykpkksler rknpllrkes appslrrrpa etlgdsspss
      241 sstpasgcss pndsehgpnp ilgseallgq rlrlqetsva pfalptvsll paitlglpap
      301 aradsdrrth ptlgprgpil gsphtplflp hglepeaggt lpsrlqpill ldpsgshapl
      361 ltvpglgplp fhfaqslmtt erlsgsglhw plsrtrsepl ppsatapppp gpmqprleql
      421 kthvqvikrs akpsekprlr qipsaedlet dgggpgqvvd dglehrelgh gqpeargpap
      481 lqqhpqvllw eqqrlagrlp rgstgdtvll plaqgghrpl sraqsspaap aslsapepas
      541 qarvlssset partlpfttg liydsvmlkh qcscgdnsrh pehagriqsi wsrlqerglr
      601 sqceclrgrk asleelqsvh serhvllygt nplsrlkldn gklagllaqr mfvmlpcggv
      661 gvdtdtiwne lhssnaarwa agsvtdlafk vasrelkngf avvrppghha dhstamgfcf
      721 fnsvaiacrq lqqqskaski livdwdvhhg ngtqqtfyqd psvlyislhr hddgnffpgs
      781 gavdevgags gegfnvnvaw aggldppmgd peylaafriv vmpiarefsp dlvlvsagfd
      841 aaeghpaplg gyhvsakcfg ymtqqlmnla ggavvlaleg ghdltaicda seacvaallg
      901 nrvdplseeg wkqkpnlnai rsleavirvh skywgcmqrl ascpdswvpr vpgadkeeve
      961 avtalaslsv gilaedrpse qlveeeepmn l
//
LOCUS       NP_001243331             198 aa            linear   PRI 18-DEC-2022
DEFINITION  elongation of very long chain fatty acids protein 1 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001243331
VERSION     NP_001243331.1
DBSOURCE    REFSEQ: accession NM_001256402.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 198)
  AUTHORS   Mueller N, Sassa T, Morales-Gonzalez S, Schneider J, Salchow DJ,
            Seelow D, Knierim E, Stenzel W, Kihara A and Schuelke M.
  TITLE     De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans,
            hypomyelination, spastic paraplegia, high frequency deafness and
            optic atrophy
  JOURNAL   J Med Genet 56 (3), 164-175 (2019)
   PUBMED   30487246
  REMARK    GeneRIF: A dominant ELOVL1 mutation causes a neuro-ichthyotic
            disorder possibly amenable to treatment with PPAR-modulating drugs.
REFERENCE   2  (residues 1 to 198)
  AUTHORS   Kutkowska-Kazmierczak A, Rydzanicz M, Chlebowski A,
            Klosowska-Kosicka K, Mika A, Gruchota J, Jurkiewicz E, Kowalewski
            C, Pollak A, Stradomska TJ, Kmiec T, Jakubowski R, Gasperowicz P,
            Walczak A, Sladowski D, Jankowska-Steifer E, Korniszewski L,
            Kosinska J, Obersztyn E, Nowak W, Sledzinski T, Dziembowski A and
            Ploski R.
  TITLE     Dominant ELOVL1 mutation causes neurological disorder with
            ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic
            features
  JOURNAL   J Med Genet 55 (6), 408-414 (2018)
   PUBMED   29496980
  REMARK    GeneRIF: he ELOVL1 p.Ser165Phe mutation is a likely cause of
            ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI)
            and dysmorphic features (IKSHD).
REFERENCE   3  (residues 1 to 198)
  AUTHORS   Schackmann MJ, Ofman R, Dijkstra IM, Wanders RJ and Kemp S.
  TITLE     Enzymatic characterization of ELOVL1, a key enzyme in very
            long-chain fatty acid synthesis
  JOURNAL   Biochim Biophys Acta 1851 (2), 231-237 (2015)
   PUBMED   25499606
  REMARK    GeneRIF: ELOV1 promotes very long-chain fatty acid accumulation
            X-linked adrenoleukodystrophy and is inhibited by CoA esters of
            bezafibrate and gemfibrozil.
REFERENCE   4  (residues 1 to 198)
  AUTHORS   Sassa T, Wakashima T, Ohno Y and Kihara A.
  TITLE     Lorenzo's oil inhibits ELOVL1 and lowers the level of sphingomyelin
            with a saturated very long-chain fatty acid
  JOURNAL   J Lipid Res 55 (3), 524-530 (2014)
   PUBMED   24489110
  REMARK    GeneRIF: Results suggest that inhibition of atty acid elongase 1
            (ELOVL1) may be an underlying mechanism by which Lorenzo's oil
            exerts its action.
REFERENCE   5  (residues 1 to 198)
  AUTHORS   Ohno Y, Suto S, Yamanaka M, Mizutani Y, Mitsutake S, Igarashi Y,
            Sassa T and Kihara A.
  TITLE     ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid
            synthesis
  JOURNAL   Proc Natl Acad Sci U S A 107 (43), 18439-18444 (2010)
   PUBMED   20937905
  REMARK    GeneRIF: ELOVL1 activity is regulated with the ceramide synthase
            CERS2, an enzyme essential for C24 sphingolipid synthesis.
REFERENCE   6  (residues 1 to 198)
  AUTHORS   Ofman R, Dijkstra IM, van Roermund CW, Burger N, Turkenburg M, van
            Cruchten A, van Engen CE, Wanders RJ and Kemp S.
  TITLE     The role of ELOVL1 in very long-chain fatty acid homeostasis and
            X-linked adrenoleukodystrophy
  JOURNAL   EMBO Mol Med 2 (3), 90-97 (2010)
   PUBMED   20166112
  REMARK    GeneRIF: The authors identify ELOVL1 (elongation of
            very-long-chain-fatty acids) as the single elongase catalysing the
            synthesis of both saturated VLCFA (C26:0) and mono-unsaturated
            VLCFA (C26:1).
REFERENCE   7  (residues 1 to 198)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   8  (residues 1 to 198)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (residues 1 to 198)
  AUTHORS   Leonard AE, Bobik EG, Dorado J, Kroeger PE, Chuang LT, Thurmond JM,
            Parker-Barnes JM, Das T, Huang YS and Mukerji P.
  TITLE     Cloning of a human cDNA encoding a novel enzyme involved in the
            elongation of long-chain polyunsaturated fatty acids
  JOURNAL   Biochem J 350 Pt 3 (Pt 3), 765-770 (2000)
   PUBMED   10970790
REFERENCE   10 (residues 1 to 198)
  AUTHORS   Lehner R and Kuksis A.
  TITLE     Biosynthesis of triacylglycerols
  JOURNAL   Prog Lipid Res 35 (2), 169-201 (1996)
   PUBMED   8944226
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM556982.1, BC000618.2 and AA635780.1.
            
            Transcript Variant: This variant (4) lacks an alternate exon which
            results in the use of a downstream start codon, compared to variant
            1. The resulting protein (isoform 3) is shorter when it is compared
            to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR279876.5781.1,
                                           SRR7346977.325018.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..198
                     /product="elongation of very long chain fatty acids
                     protein 1 isoform 3"
                     /EC_number="2.3.1.199"
                     /note="elongation of very long chain fatty acids
                     (FEN1/Elo2, SUR4/Elo3, yeast)-like 1; elongation of very
                     long chain fatty acids protein 1; 3-keto acyl-CoA synthase
                     ELOVL1; ELOVL FA elongase 1; very long chain 3-oxoacyl-CoA
                     synthase 1; very long chain 3-ketoacyl-CoA synthase 1"
                     /calculated_mol_wt=23153
     Region          <4..179
                     /region_name="ELO"
                     /note="GNS1/SUR4 family; pfam01151"
                     /db_xref="CDD:426083"
     CDS             1..198
                     /gene="ELOVL1"
                     /gene_synonym="CGI-88; IKSHD; Ssc1"
                     /coded_by="NM_001256402.2:164..760"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="GeneID:64834"
                     /db_xref="HGNC:HGNC:14418"
                     /db_xref="MIM:611813"
ORIGIN      
        1 msgwlstytw rcdpvdysns pealrmvrva wlflfskfie lmdtvifilr kkdgqvtflh
       61 vfhhsvlpws wwwgvkiapg gmgsfhamin ssvhvimyly yglsafgpva qpylwwkkhm
      121 taiqliqfvl vslhisqyyf msscnyqypv iihliwmygt iffmlfsnfw yhsytkgkrl
      181 pralqqngap giakvkan
//
LOCUS       NP_071435                311 aa            linear   PRI 18-DEC-2022
DEFINITION  protein lifeguard 3 isoform 1 [Homo sapiens].
ACCESSION   NP_071435
VERSION     NP_071435.2
DBSOURCE    REFSEQ: accession NM_022152.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 311)
  AUTHORS   Ganel L, Chen L, Christ R, Vangipurapu J, Young E, Das I, Kanchi K,
            Larson D, Regier A, Abel H, Kang CJ, Scott A, Havulinna A, Chiang
            CWK, Service S, Freimer N, Palotie A, Ripatti S, Kuusisto J,
            Boehnke M, Laakso M, Locke A, Stitziel NO and Hall IM.
  TITLE     Mitochondrial genome copy number measured by DNA sequencing in
            human blood is strongly associated with metabolic traits via
            cell-type composition differences
  JOURNAL   Hum Genomics 15 (1), 34 (2021)
   PUBMED   34099068
  REMARK    GeneRIF: Mitochondrial genome copy number measured by DNA
            sequencing in human blood is strongly associated with metabolic
            traits via cell-type composition differences.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 311)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 311)
  AUTHORS   Guo G, Xu M, Chang Y, Luyten T, Seitaj B, Liu W, Zhu P, Bultynck G,
            Shi L, Quick M and Liu Q.
  TITLE     Ion and pH Sensitivity of a TMBIM Ca2+ Channel
  JOURNAL   Structure 27 (6), 1013-1021 (2019)
   PUBMED   30930064
REFERENCE   4  (residues 1 to 311)
  AUTHORS   Zhang J, Fu Y, Chen J, Li Q, Guo H and Yang B.
  TITLE     Genetic variant of TMBIM1 is associated with the susceptibility of
            colorectal cancer in the Chinese population
  JOURNAL   Clin Res Hepatol Gastroenterol 43 (3), 324-329 (2019)
   PUBMED   30447906
  REMARK    GeneRIF: We aimed to replicate the association of rs992157 with CRC
            in the Chinese population and to further determine the real
            susceptible gene of CRC as indicated by this variant. Variant
            rs992157 is significantly associated with the susceptibility and
            progression of colorectal cancer. It can increase the risk of CRC
            possibly via up-regulation of TMBIM1.
REFERENCE   5  (residues 1 to 311)
  AUTHORS   Zhao GN, Zhang P, Gong J, Zhang XJ, Wang PX, Yin M, Jiang Z, Shen
            LJ, Ji YX, Tong J, Wang Y, Wei QF, Wang Y, Zhu XY, Zhang X, Fang J,
            Xie Q, She ZG, Wang Z, Huang Z and Li H.
  TITLE     Tmbim1 is a multivesicular body regulator that protects against
            non-alcoholic fatty liver disease in mice and monkeys by targeting
            the lysosomal degradation of Tlr4
  JOURNAL   Nat Med 23 (6), 742-752 (2017)
   PUBMED   28481357
  REMARK    GeneRIF: TMBIM1 is an effective suppressor of steatohepatitis and a
            previously unknown regulator of the multivesicular body
            (MVB)-lysosomal pathway.
REFERENCE   6  (residues 1 to 311)
  AUTHORS   Zhao H, Ito A, Sakai N, Matsuzawa Y, Yamashita S and Nojima H.
  TITLE     RECS1 is a negative regulator of matrix metalloproteinase-9
            production and aged RECS1 knockout mice are prone to aortic
            dilation
  JOURNAL   Circ J 70 (5), 615-624 (2006)
   PUBMED   16636500
REFERENCE   7  (residues 1 to 311)
  AUTHORS   Zhao H, Ito A, Kimura SH, Yabuta N, Sakai N, Ikawa M, Okabe M,
            Matsuzawa Y, Yamashita S and Nojima H.
  TITLE     RECS1 deficiency in mice induces susceptibility to cystic medial
            degeneration
  JOURNAL   Genes Genet Syst 81 (1), 41-50 (2006)
   PUBMED   16607040
REFERENCE   8  (residues 1 to 311)
  AUTHORS   Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X,
            Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X,
            Xu H, Guo M, Pan Z, Chen Y, Ge C, Yang S and Gu J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   9  (residues 1 to 311)
  AUTHORS   Hwang KC, Cui XS, Park SP, Shin MR, Park SY, Kim EY and Kim NH.
  TITLE     Identification of differentially regulated genes in bovine
            blastocysts using an annealing control primer system
  JOURNAL   Mol Reprod Dev 69 (1), 43-51 (2004)
   PUBMED   15278903
REFERENCE   10 (residues 1 to 311)
  AUTHORS   Yoshisue H, Suzuki K, Kawabata A, Ohya T, Zhao H, Sakurada K, Taba
            Y, Sasaguri T, Sakai N, Yamashita S, Matsuzawa Y and Nojima H.
  TITLE     Large scale isolation of non-uniform shear stress-responsive genes
            from cultured human endothelial cells through the preparation of a
            subtracted cDNA library
  JOURNAL   Atherosclerosis 162 (2), 323-334 (2002)
   PUBMED   11996952
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC021016.5.
            On Jul 26, 2004 this sequence version replaced NP_071435.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC013428.1, SRR3476690.261154.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2154405
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000258412.8/ ENSP00000258412.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..311
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     Protein         1..311
                     /product="protein lifeguard 3 isoform 1"
                     /note="transmembrane BAX inhibitor motif-containing
                     protein 1; protein lifeguard 3"
                     /calculated_mol_wt=34476
     Region          1..37
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2)"
     Region          50..72
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2)"
     Site            81
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BJZ3; propagated from
                     UniProtKB/Swiss-Prot (Q969X1.2)"
     Site            83
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q969X1.2)"
     Region          89..308
                     /region_name="LFG_like"
                     /note="Proteins similar to and including lifeguard (LFG),
                     a putative regulator of apoptosis; cd10428"
                     /db_xref="CDD:198410"
     Site            110..130
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2)"
     Site            134..154
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2)"
     Site            165..185
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2)"
     Site            190..210
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2)"
     Site            221..241
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2)"
     Site            246..266
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2)"
     Site            286..306
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969X1.2)"
     CDS             1..311
                     /gene="TMBIM1"
                     /gene_synonym="LFG3; MST100; MSTP100; PP1201; RECS1"
                     /coded_by="NM_022152.6:79..1014"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2412.1"
                     /db_xref="GeneID:64114"
                     /db_xref="HGNC:HGNC:23410"
                     /db_xref="MIM:610364"
ORIGIN      
        1 msnpsapppy edrnplypgp pppggygqps vlpggypayp gypqpgyghp agypqpmppt
       61 hpmpmnygpg hgydgeerav sdsfgpgewd drkvrhtfir kvysiisvql litvaiiaif
      121 tfvepvsafv rrnvavyyvs yavfvvtyli laccqgprrr fpwniilltl ftfamgfmtg
      181 tissmyqtka viiamiitav vsisvtifcf qtkvdftsct glfcvlgivl lvtgivtsiv
      241 lyfqyvywlh mlyaalgaic ftlflaydtq lvlgnrkhti spedyitgal qiytdiiyif
      301 tfvlqlmgdr n
//
LOCUS       NP_055935               4169 aa            linear   PRI 20-DEC-2022
DEFINITION  centrosome-associated protein ALMS1 isoform 1 [Homo sapiens].
ACCESSION   NP_055935
VERSION     NP_055935.4
DBSOURCE    REFSEQ: accession NM_015120.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 4169)
  AUTHORS   Cheng WY, Ma MJ, Yuan SQ, Qi XL, Rong WN and Sheng XL.
  TITLE     New pathogenic variants of ALMS1 gene in two Chinese families with
            Alstrom Syndrome
  JOURNAL   BMC Ophthalmol 22 (1), 386 (2022)
   PUBMED   36162988
  REMARK    GeneRIF: New pathogenic variants of ALMS1 gene in two Chinese
            families with Alstrom Syndrome.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 4169)
  AUTHORS   Huang L, Guo M, Zhou Y, Liang T and Li N.
  TITLE     Identification of ALMS1 pathogenic variants in Chinese patients
            with Alstrom syndrome
  JOURNAL   Ophthalmic Genet 43 (4), 573-575 (2022)
   PUBMED   35786123
  REMARK    GeneRIF: Identification of ALMS1 pathogenic variants in Chinese
            patients with Alstrom syndrome.
REFERENCE   3  (residues 1 to 4169)
  AUTHORS   Dullea A, Efimenko I, Firdaus F, Griswold A, Arora H, Masterson T
            and Ramasamy R.
  TITLE     Whole-Genome Sequencing Identifies Novel Heterozygous Mutation in
            ALMS1 in Three Men With Both Peyronie's and Dupuytren's Disease
  JOURNAL   Urology 166, 76-78 (2022)
   PUBMED   35292292
  REMARK    GeneRIF: Whole-Genome Sequencing Identifies Novel Heterozygous
            Mutation in ALMS1 in Three Men With Both Peyronie's and Dupuytren's
            Disease.
REFERENCE   4  (residues 1 to 4169)
  AUTHORS   Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S,
            White C, Connolly V, Taylor JF, Russell-Eggitt I, Bonneau D, Walker
            M and Wilson DI.
  TITLE     Mutation of ALMS1, a large gene with a tandem repeat encoding 47
            amino acids, causes Alstrom syndrome
  JOURNAL   Nat Genet 31 (1), 79-83 (2002)
   PUBMED   11941370
  REMARK    GeneRIF: Mutation of ALMS1, a large gene with a tandem repeat
            encoding 47 amino acids, causes Alstrom syndrome.
REFERENCE   5  (residues 1 to 4169)
  AUTHORS   Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P,
            Beck S, Boerkoel CF, Sicolo N, Martin M, Nishina PM and Naggert JK.
  TITLE     Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory
            degeneration in Alstrom syndrome
  JOURNAL   Nat Genet 31 (1), 74-78 (2002)
   PUBMED   11941369
  REMARK    GeneRIF: Mutations in ALMS1 cause obesity, type 2 diabetes and
            neurosensory degeneration in Alstrom syndrome.
REFERENCE   6  (residues 1 to 4169)
  AUTHORS   Macari F, Lautier C, Girardet A, Dadoun F, Darmon P, Dutour A,
            Renard E, Bouvagnet P, Claustres M, Oliver C and Grigorescu F.
  TITLE     Refinement of genetic localization of the Alstrom syndrome on
            chromosome 2p12-13 by linkage analysis in a North African family
  JOURNAL   Hum Genet 103 (6), 658-661 (1998)
   PUBMED   9921899
REFERENCE   7  (residues 1 to 4169)
  AUTHORS   Collin GB, Marshall JD, Cardon LR and Nishina PM.
  TITLE     Homozygosity mapping at Alstrom syndrome to chromosome 2p
  JOURNAL   Hum Mol Genet 6 (2), 213-219 (1997)
   PUBMED   9063741
REFERENCE   8  (residues 1 to 4169)
  AUTHORS   Golsteyn RM, Mundt KE, Fry AM and Nigg EA.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
REFERENCE   9  (residues 1 to 4169)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   10 (residues 1 to 4169)
  AUTHORS   Paisey,R.B., Steeds,R., Barrett,T., Williams,D., Geberhiwot,T. and
            Gunay-Aygun,M.
  TITLE     Alstrom Syndrome
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301444
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ417593.2, AC074008.5,
            AC096546.1 and AC092653.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 14, 2006 this sequence version replaced NP_055935.3.
            
            Summary: This gene encodes a protein containing a large
            tandem-repeat domain as well as additional low complexity regions.
            The encoded protein functions in microtubule organization,
            particularly in the formation and maintanance of cilia. Mutations
            in this gene cause Alstrom syndrome. There is a pseudogene for this
            gene located adjacent in the same region of chromosome 2.
            Alternative splice variants have been described but their full
            length nature has not been determined. [provided by RefSeq, Apr
            2014].
            
            Transcript Variant: This variant (1) encodes isoform 1. This
            transcript and NM_001378454.1 have the same exon combination but
            differ in the length of the encoded proteins.
            
            Sequence Note: Sequence Note: NM_015120.4 and NM_001378454.1 have
            the same exon combination but differ in the length of their coding
            sequence (CDS) by 1 aa, caused by a 3-nt insert in NM_015120.4 in a
            simple repeat region, compared to NM_001378454.1. NM_015120.4 is
            the reference transcript on public LRG_741; NM_001378454.1 is the
            MANE Select transcript.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ417593.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..4169
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     Protein         1..4169
                     /product="centrosome-associated protein ALMS1 isoform 1"
                     /note="Alstrom syndrome 1; Alstrom syndrome protein 1;
                     centrosome-associated protein ALMS1"
                     /calculated_mol_wt=461062
     Site            465
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          540..2201
                     /region_name="34 X 47 AA approximate tandem repeat"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          540..586
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          559..580
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          587..633
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          607..626
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          634..680
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          681..727
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          700..719
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          728..775
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          736..770
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          777..822
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          842..866
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          873..919
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          920..966
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          947..970
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          967..1014
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          984..1008
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          1015..1061
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1028..1056
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          1063..1108
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1109..1156
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1157..1203
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Site            1190
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          1204..1250
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1222..1242
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          1251..1298
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1299..1345
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1346..1393
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1394..1440
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1441..1487
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1488..1535
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1536..1582
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1583..1629
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1630..1676
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1677..1723
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1724..1770
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1771..1817
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1787..1807
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          1818..1862
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1863..1907
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1908..1952
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          1953..1997
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          2060..2106
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          2108..2153
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Site            2144
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          2154..2200
                     /region_name="ALMS_repeat"
                     /note="Alstrom syndrome repeat; pfam18727"
                     /db_xref="CDD:376150"
     Region          2457..2478
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Site            2467
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          2601..2622
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Site            2633
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          2754..2829
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Site            2806
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          2893..2913
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          3284..3311
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          3390..3427
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          3566..3595
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          3644..3705
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     Region          4033..4165
                     /region_name="ALMS_motif"
                     /note="ALMS motif; pfam15309"
                     /db_xref="CDD:434619"
     Region          4037..4168
                     /region_name="ALMS motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCU4.4)"
     CDS             1..4169
                     /gene="ALMS1"
                     /gene_synonym="ALSS"
                     /coded_by="NM_015120.4:112..12621"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="GeneID:7840"
                     /db_xref="HGNC:HGNC:428"
                     /db_xref="MIM:606844"
ORIGIN      
        1 mepedlpwpg eleeeeeeee eeeeeeeeea aaaaaanvdd vvvveeveee agreldsdsh
       61 ygpqhlesid deedeeakaw lqahpgrilp plsppqhrys egertsleki vpltchvwqq
      121 ivyqgnsrtq isdtnvvcle ttaqrgsgdd qkteswhclp qemdssqtld tsqtrfnvrt
      181 edtevtdfps leegiltqse nqvkepnrdl fcspllviqd sfaspdlpll tcltqdqefa
      241 pdslfhqsel sfaplrgipd ksedtewssr psevsealfq ataevasdla ssrfsvsqhp
      301 ligstavgsq cpflpseqgn neetissvde lkipkdcdry ddlcsymswk trkdtqwpen
      361 nladkdqvsv atsfditden iatkrsdhfd aarsygqywt qedsskqaet yltkglqgkv
      421 esdvitldgl nenavvcser vaelqrkptr eseyhssdlr mlrmspdtvp kapkhlkagd
      481 tskggiakvt qsnlksgitt tpvdsdigsh lslsledlsq lavssplett tgqhtdtlnq
      541 ktladthlte etlkvtaipe padqktatpt vlssshshrg kpsifyqqgl pdshlteeal
      601 kvsaapglad qttgmstlts tsyshrekpg tfyqqelpes nlteeplevs aapgpveqkt
      661 giptvsstsh shvedllffy rqtlpdghlt dqalkvsavs gpadqktgta tvlstphshr
      721 ekpgifyqqe fadshqteet ltkvsatpgp adqkteipav qsssysqrek psilypqdla
      781 dshlpeeglk vsavagpadq ktglptvpss ayshrekllv fyqqalldsh lpeealkvsa
      841 vsgpadgktg tpavtstssa ssslgekpsa fyqqtlpnsh lteealkvsi vpgpgdqktg
      901 ipsapssfys hrekpiifsq qtlpdflfpe ealkvsavsv laaqktgtpt vssnshshse
      961 kssvfyqqel pdsdlpresl kmsaipgltd qktvptptvp sgsfshrekp sifyqqewpd
     1021 syatekalkv stgpgpadqk teipavqsss ypqrekpsvl ypqvlsdshl peeslkvsaf
     1081 pgpadqmtdt pavpstfysq rekpgifyqq tlpeshlpke alkisvapgl adqktgtptv
     1141 tstsysqhre kpsifhqqal pgthipeeaq kvsavtgpgn qktwiprvls tfysqrekpg
     1201 ifyqqtlpgs hipeeaqkvs pvlgpadqkt gtptptsasy shtekpgify qqvlpdnhpt
     1261 eealkisvas epvdqttgtp avtstsysqy rekpsifyqq slpsshltee aknvsavpgp
     1321 adqktvipil pstfyshtek pgvfyqqvlp hshpteealk isvasepvdq ttgtptvtst
     1381 sysqhtekps ifyqqslpgs hlteeaknvs avpgpgdrkt giptlpstfy shtekpgsfy
     1441 qqvlphshlp eealevsvap gpvdqtigtp tvtspsssfg ekpiviykqa fpeghlpees
     1501 lkvsvapgpv gqttgaptit spsysqhrak sgsfyqlall gsqipeealr vssapgpadq
     1561 ttgiptitst sysfgekpiv nykqafpdgh lpeealkvsi vsgptekktd ipagplgssa
     1621 lgekpitfyr qalldsplnk evvkvsaapg padqktetlp vhstsysnrg kpvifyqqtl
     1681 sdshlpeeal kvppvpgpda qktetpsvss slysyrekpi vfyqqalpds eltqealkvs
     1741 avpqpadqkt glstvtssfy shtekpnisy qqelpdshlt eealkvsnvp gpadqktgvs
     1801 tvtstsyshr ekpivsyqre lphfteaglk ilrvpgpadq ktginilpsn sypqrehsvi
     1861 syeqelpdlt evtlkaigvp gpadqktgiq iassssysnr ekasifhqqe lpdvteealn
     1921 vfvvpgqgdr kteiptvpls yysrrekpsv isqqelpdsh lteealkvsp vsipaeqktg
     1981 ipiglsssys hshkeklkis tvhipddqkt efpaatlssy sqiekpkist vigpndqktp
     2041 sqtafhssys qtvkpnilfq qqlpdrdqsk gilkisavpe ltdvntgkpv slsssyfhre
     2101 ksnifspqel pgshvtedvl kvstipgpag qktvlptalp ssfshrekpd ifyqkdlpdr
     2161 hltedalkis salgqadqit glqtvpsgty shgenhklvs ehvqrlidnl nssdssvssn
     2221 nvllnsqadd rvvinkpesa gfrdvgseei qdaensaktl keirtllmea enmalkrcnf
     2281 paplarfrdi sdisfiqskk vvcfkepsst gvsngdllhr qpfteespss rciqkdigtq
     2341 tnlkcrrgie nwefissttv rsplqeaesk vsmaleetlr qyqaaksvmr sepegcsgti
     2401 gnkiiipmmt viksdsssda sdgngscswd snlpeslesv sdvllnffpy vspktsitds
     2461 reeegvsese dgggssvdsl aahvknllqc esslnhakei lrnaeeeesr vrahawnmkf
     2521 nlahdcgysi selneddrrk veeikaelfg hgrttdlskg lqsprgmgck peavcshiii
     2581 eshekgcfrt ltsehpqldr hpcafrsagp semtrgrqnp sscrakhvnl sasldqnnsh
     2641 fkvwnslqlk shspfqnfip defkiskglr mpfdekmdpw lselvepafv ppkevdfhss
     2701 sqmpspepmk kfttsitfss hrhskcisns svvkvgvteg sqctgasvgv fnshfteeqn
     2761 pprdlkqkts spssfkmhsn sqdkevtila egrrqsqklp vdfersfqee kplersdftg
     2821 shsepstran csnfkeiqis dnhtlismgr psstlgvnrs ssrlgvkekn vtitpdlpsc
     2881 ifleqrelfe qskapraddh vrkhhspspq hqdyvapdlp scifleqrel feqckapyvd
     2941 hqmrenhspl pqgqdsiasd lpspisleqc qskapgvddq mnkhhfplpq gqdcvveknn
     3001 qhkpkshisn inveakfntv vsqsapnhct laasastpps nrkalscvhi tlcpktsskl
     3061 dsgtlderfh sldaaskarm nsefnfdlht vssrslepts klltskpvaq dqeslgflgp
     3121 kssldfqvvq pslpdsntit qdlktipsqn sqivtsrqiq vnisdfeghs npegtpvfad
     3181 rlpekmktpl safseklssd avtqittesp ektlfsseif inaedrghei iepgnqklrk
     3241 apvkfassss vqqvtfsrgt dgqplllpyk psgstkmyyv pqlrqippsp dsksdttves
     3301 shsgsndaia pdfpaqvlgt rdddlsatvn ikhkegiysk rvvtkaslpv gekplqnena
     3361 dasvqvlitg denlsdkkqq eihstravte aaqakekesl qkdtadssaa aaaehsaqvg
     3421 dpemknlpdt kaitqkeeih rkktvpeeaw pnnkeslqin ieesechsef enttrsvfrs
     3481 akfyihhpvh lpsdqdiche slgksvfmrh swkdffqhhp dkhrehmclp lpyqnmdktk
     3541 tdytriksls invnlgnkev mdttksqvrd ypkhngqisd pqrdqkvtpe qttqhtvsln
     3601 elwnkyrerq rqqrqpelgd rkelslvdrl drlakilqnp ithslqvses thddsrgers
     3661 vkewsgrqqq rnklqkkkrf kslekshknt gelkkskvls hhragrsnqi kieqikfdky
     3721 ilskqpgfny isntssdcrp seeselltdt ttnilsgtts tvesdiltqt drevalhers
     3781 ssvstidtar liqafgherv clsprrikly ssitnqqrry lekrskhskk vlntghplvt
     3841 sehtrrrhiq vanhvissds isssassfls snstfcnkqn vhmlnkgiqa gnleivngak
     3901 khtrdvgitf ptpssseakl eensdvtsws eekreekmlf tgypedrklk knkknshegv
     3961 swfvpvenve srskkenvpn tcgpgiswfe pitktrpwre plreqncqgq hldgrgylag
     4021 pgreagrdll rpfvratlqe slqfhrpdfi srsgerikrl klivqerklq smlqterdal
     4081 fnidrerqgh qnrmcplpkr vflaiqknkp iskkemiqrs kriyeqlpev qkkreeekrk
     4141 seyksyrlra qlykkrvtnq llgrkvpwd
//
LOCUS       NP_001005496             328 aa            linear   PRI 22-DEC-2022
DEFINITION  olfactory receptor 5D16 [Homo sapiens].
ACCESSION   NP_001005496
VERSION     NP_001005496.1
DBSOURCE    REFSEQ: accession NM_001005496.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 328)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (residues 1 to 328)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC036111.7.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378396.1/ ENSP00000367649.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..328
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     Protein         1..328
                     /product="olfactory receptor 5D16"
                     /note="olfactory receptor OR11-154"
                     /calculated_mol_wt=37147
     Site            7
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NGK9.1)"
     Region          14..307
                     /region_name="7tmA_OR5D-like"
                     /note="olfactory receptor subfamily 5D and related
                     proteins, member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15410"
                     /db_xref="CDD:320532"
     Region          28..54
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320532"
     Site            28..48
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK9.1)"
     Site            57..77
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK9.1)"
     Region          61..87
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320532"
     Site            order(83,86..87,99..104,106..107,110,155,157..161,197,
                     200..202,204..206,208..209,254,257..258,260..261,264,
                     270..271,273..275,278,281..282)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320532"
     Region          99..129
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320532"
     Site            102..122
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK9.1)"
     Region          142..163
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320532"
     Site            142..162
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK9.1)"
     Region          197..227
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320532"
     Site            199..219
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK9.1)"
     Region          234..264
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320532"
     Site            240..260
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK9.1)"
     Region          271..296
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320532"
     Site            274..294
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK9.1)"
     CDS             1..328
                     /gene="OR5D16"
                     /gene_synonym="OR11-154"
                     /coded_by="NM_001005496.1:1..987"
                     /db_xref="CCDS:CCDS31512.1"
                     /db_xref="GeneID:390144"
                     /db_xref="HGNC:HGNC:15283"
ORIGIN      
        1 mflterntts eatftllgfs dylelqiplf fvflavygfs vvgnlgmivi ikinpklhtp
       61 myfflnhlsf vdfcyssiia pmmlvnlvve drtisfsgcl vqffffctfv vtelilfavm
      121 aydhfvaicn pllytvaisq klcamlvvvl yawgvacslt lacsalklsf hgfntinhff
      181 celsslisls ypdsylsqll lftvatfnei stlliiltsy afiivttlkm psasghrkvf
      241 stcashltai tifhgtilfl ycvpnsknsr htvkvasvfy tvvipllnpl iyslrnkdvk
      301 dairkiintk yfhikhrhwy pfnfvieq
//
LOCUS       NP_001350352            1007 aa            linear   PRI 25-DEC-2022
DEFINITION  coiled-coil domain-containing protein 136 isoform 3 [Homo sapiens].
ACCESSION   NP_001350352 XP_005250595
VERSION     NP_001350352.1
DBSOURCE    REFSEQ: accession NM_001363423.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1007)
  AUTHORS   Adams AK, Smith SD, Truong DT, Willcutt EG, Olson RK, DeFries JC,
            Pennington BF and Gruen JR.
  TITLE     Enrichment of putatively damaging rare variants in the DYX2 locus
            and the reading-related genes CCDC136 and FLNC
  JOURNAL   Hum Genet 136 (11-12), 1395-1405 (2017)
   PUBMED   28866788
  REMARK    GeneRIF: Missense variant in CCDC136 gene is associated with
            reading disability.
REFERENCE   2  (residues 1 to 1007)
  AUTHORS   Gialluisi A, Newbury DF, Wilcutt EG, Olson RK, DeFries JC, Brandler
            WM, Pennington BF, Smith SD, Scerri TS, Simpson NH, Luciano M,
            Evans DM, Bates TC, Stein JF, Talcott JB, Monaco AP, Paracchini S,
            Francks C and Fisher SE.
  CONSRTM   SLI Consortium
  TITLE     Genome-wide screening for DNA variants associated with reading and
            language traits
  JOURNAL   Genes Brain Behav 13 (7), 686-701 (2014)
   PUBMED   25065397
  REMARK    GeneRIF: CCDC136 locus showed association with a comparable
            reading/language measure.
REFERENCE   3  (residues 1 to 1007)
  AUTHORS   Zhang XM, Sheng SR, Wang XY, Bin LH, Wang JR and Li GY.
  TITLE     Expression of tumor related gene NAG6 in gastric cancer and
            restriction fragment length polymorphism analysis
  JOURNAL   World J Gastroenterol 10 (9), 1361-1364 (2004)
   PUBMED   15112360
  REMARK    GeneRIF: Data suggest that NAG6 may represent a candidate tumor
            suppressor gene at 7q31-32 loci associated with gastric carcinoma.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DR003042.1, AK124447.1, DB078673.1, AL042602.1, DA511054.1,
            AK023500.1 and DB050791.1.
            On May 18, 2018 this sequence version replaced XP_005250595.1.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2148093,
                              SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1007
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.1"
     Protein         1..1007
                     /product="coiled-coil domain-containing protein 136
                     isoform 3"
                     /note="coiled-coil domain-containing protein 136;
                     nasopharyngeal carcinoma-associated gene 6 protein"
                     /calculated_mol_wt=116396
     Region          <84..451
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          155..797
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     CDS             1..1007
                     /gene="CCDC136"
                     /gene_synonym="NAG6"
                     /coded_by="NM_001363423.2:57..3080"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:64753"
                     /db_xref="HGNC:HGNC:22225"
                     /db_xref="MIM:611902"
ORIGIN      
        1 meagagagag aagwscpgpg ptvttlgsye asegcerkkg qrwgslerrg mqamegevll
       61 palyeeeeee eeeeeeveee eeqvqkggsv gslsvnkhrg lsltetelee lraqvlqlva
      121 eleetrelag qheddslelq gllederlas aqqaevftkq iqqlqgelrs lreeislleh
      181 ekeselkeie qelhlaqaei qslrqaaeds atehesdias lqedlcrmqn eledmerirg
      241 dyemeiaslr aememkssep sgslglsdys glqeelqelr eryhflneey ralqesnssl
      301 tgqladlese rtqraterwl qsqtlsmtsa esqtsemdfl epdpemqllr qqlrdaeeqm
      361 hgmknkcqel cceleelqhh rqvseeeqrr lqrelkcaqn evlrfqtshs vtqneelksr
      421 lctlqkkydt sqdeqnellk mqlqlqtelr qlkvmkstlv enqsekellc rlqklhlqhq
      481 nvtcekekll erqqqlqeel qcheaelqhl rdtvasfkes nekdtethaq lqemkqlyqa
      541 skdelerqkh mydqleqdll lcqlelkelk ashpipedkg kcankcdtll srltelqeky
      601 kasqkemgql qmeqcelled qrrmqeeqgq lqeelhrltl plpksglllk sqelltkled
      661 lcelqllyqg mqeeqkkliq nqdcvlkeql eiheelrrfk eshfqevlen pddsklakss
      721 kcnrnkqskl lmeqmqalqv mydagqakqe llqqeqgrll eerkrlqadl qlcleemqll
      781 qvqspsikms lesygksygs mvpsnencrk tydttvddne syyksytstq tssksflksy
      841 dsstsaseay gksycttsns sitykksygs tsssdtcqks fvssctdeep aepedmerfe
      901 emvvkvlikl qavqamyqis qeehsqlqeq mekllakqkd lkeeldacer efkecmecle
      961 kpmapqndkn enmfglwkpm vflaiaaval yvlpnmrqqe sefclme
//
LOCUS       NP_056238                309 aa            linear   PRI 25-DEC-2022
DEFINITION  L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl
            transferase [Homo sapiens].
ACCESSION   NP_056238
VERSION     NP_056238.2
DBSOURCE    REFSEQ: accession NM_015423.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 309)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 309)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (residues 1 to 309)
  AUTHORS   Strickland KC, Krupenko NI, Dubard ME, Hu CJ, Tsybovsky Y and
            Krupenko SA.
  TITLE     Enzymatic properties of ALDH1L2, a mitochondrial
            10-formyltetrahydrofolate dehydrogenase
  JOURNAL   Chem Biol Interact 191 (1-3), 129-136 (2011)
   PUBMED   21238436
REFERENCE   4  (residues 1 to 309)
  AUTHORS   Strickland KC, Hoeferlin LA, Oleinik NV, Krupenko NI and Krupenko
            SA.
  TITLE     Acyl carrier protein-specific 4'-phosphopantetheinyl transferase
            activates 10-formyltetrahydrofolate dehydrogenase
  JOURNAL   J Biol Chem 285 (3), 1627-1633 (2010)
   PUBMED   19933275
  REMARK    GeneRIF: Our study identifies human PPT as the FDH-modifying enzyme
            and supports the hypothesis that mammals utilize a single enzyme
            for all phosphopantetheinylation reactions.
REFERENCE   5  (residues 1 to 309)
  AUTHORS   Sowa ME, Bennett EJ, Gygi SP and Harper JW.
  TITLE     Defining the human deubiquitinating enzyme interaction landscape
  JOURNAL   Cell 138 (2), 389-403 (2009)
   PUBMED   19615732
REFERENCE   6  (residues 1 to 309)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (residues 1 to 309)
  AUTHORS   Bunkoczi G, Pasta S, Joshi A, Wu X, Kavanagh KL, Smith S and
            Oppermann U.
  TITLE     Mechanism and substrate recognition of human holo ACP synthase
  JOURNAL   Chem Biol 14 (11), 1243-1253 (2007)
   PUBMED   18022563
REFERENCE   8  (residues 1 to 309)
  AUTHORS   Joshi AK, Zhang L, Rangan VS and Smith S.
  TITLE     Cloning, expression, and characterization of a human
            4'-phosphopantetheinyl transferase with broad substrate specificity
  JOURNAL   J Biol Chem 278 (35), 33142-33149 (2003)
   PUBMED   12815048
  REMARK    GeneRIF: humans appear to utilize a single, broad specificity
            enzyme, 4'-phosphopantetheine transferase, for all
            posttranslational 4'-phosphopantetheinylation reactions
REFERENCE   9  (residues 1 to 309)
  AUTHORS   Praphanphoj V, Sacksteder KA, Gould SJ, Thomas GH and Geraghty MT.
  TITLE     Identification of the alpha-aminoadipic semialdehyde
            dehydrogenase-phosphopantetheinyl transferase gene, the human
            ortholog of the yeast LYS5 gene
  JOURNAL   Mol Genet Metab 72 (4), 336-342 (2001)
   PUBMED   11286508
REFERENCE   10 (residues 1 to 309)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001001.5.
            On Apr 30, 2002 this sequence version replaced NP_056238.1.
            
            Summary: The protein encoded by this gene is similar to
            Saccharomyces cerevisiae LYS5, which is required for the activation
            of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway
            of lysine. Yeast alpha-aminoadipate dehydrogenase converts
            alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate.
            It has been suggested that defects in the human gene result in
            pipecolic acidemia. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.38951.1,
                                           SRR1660809.100712.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278618.9/ ENSP00000278618.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..309
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3"
     Protein         1..309
                     /product="L-aminoadipate-semialdehyde
                     dehydrogenase-phosphopantetheinyl transferase"
                     /EC_number="2.7.8.7"
                     /note="alpha-aminoadipic semialdehyde
                     dehydrogenase-phosphopantetheinyl transferase;
                     4'-phosphopantetheinyl transferase; LYS5 ortholog; holo
                     ACP synthase; holo-[acyl-carrier-protein] synthase"
                     /calculated_mol_wt=35645
     Region          42..208
                     /region_name="Sfp"
                     /note="Phosphopantetheinyl transferase [Coenzyme transport
                     and metabolism]; COG2091"
                     /db_xref="CDD:225002"
     Site            258
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NRN7.2)"
     CDS             1..309
                     /gene="AASDHPPT"
                     /gene_synonym="AASD-PPT; ACPS; CGI-80; LYS2; LYS5"
                     /coded_by="NM_015423.3:50..979"
                     /db_xref="CCDS:CCDS31664.1"
                     /db_xref="GeneID:60496"
                     /db_xref="HGNC:HGNC:14235"
                     /db_xref="MIM:607756"
ORIGIN      
        1 mvfpakrfcl vpsmegvrwa fscgtwlpsr aewllavrsi qpeekerigq fvfardakaa
       61 magrlmirkl vaeklnipwn hirlqrtakg kpvlakdssn pypnfnfnis hqgdyavlaa
      121 epelqvgidi mktsfpgrgs ipeffhimkr kftnkeweti rsfkdewtql dmfyrnwalk
      181 esfikaigvg lgfelqrlef dlsplnldig qvyketrlfl dgeeekewaf eeskidehhf
      241 vavalrkpdg srhqdvpsqd dskptqrqft ilnfndlmss avpmtpedps fwdcfcftee
      301 ipirngtks
//
LOCUS       NP_001269271             600 aa            linear   PRI 26-DEC-2022
DEFINITION  armadillo repeat-containing protein 8 isoform 5 [Homo sapiens].
ACCESSION   NP_001269271
VERSION     NP_001269271.1
DBSOURCE    REFSEQ: accession NM_001282342.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 600)
  AUTHORS   Li X, Zhang C, Yuan Y, Wang Y, Lu S, Zhou Z, Zhen P and Zhou M.
  TITLE     Downregulation of ARMC8 promotes tumorigenesis through activating
            Wnt/beta-catenin pathway and EMT in cutaneous squamous cell
            carcinomas
  JOURNAL   J Dermatol Sci 102 (3), 184-192 (2021)
   PUBMED   34016486
  REMARK    GeneRIF: Downregulation of ARMC8 promotes tumorigenesis through
            activating Wnt/beta-catenin pathway and EMT in cutaneous squamous
            cell carcinomas.
REFERENCE   2  (residues 1 to 600)
  AUTHORS   Gul IS, Hulpiau P, Sanders E, van Roy F and van Hengel J.
  TITLE     Armc8 is an evolutionarily conserved armadillo protein involved in
            cell-cell adhesion complexes through multiple molecular
            interactions
  JOURNAL   Biosci Rep 39 (8) (2019)
   PUBMED   30482882
  REMARK    GeneRIF: Armc8 is an evolutionarily conserved armadillo protein
            involved in cell-cell adhesion complexes through multiple molecular
            interactions.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 600)
  AUTHORS   Lampert F, Stafa D, Goga A, Soste MV, Gilberto S, Olieric N,
            Picotti P, Stoffel M and Peter M.
  TITLE     The multi-subunit GID/CTLH E3 ubiquitin ligase promotes cell
            proliferation and targets the transcription factor Hbp1 for
            degradation
  JOURNAL   Elife 7, e35528 (2018)
   PUBMED   29911972
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 600)
  AUTHORS   Zhao Y, Peng S, Jia C, Xu F, Xu Y and Dai C.
  TITLE     Armc8 regulates the invasive ability of hepatocellular carcinoma
            through E-cadherin/catenin complex
  JOURNAL   Tumour Biol 37 (8), 11219-11224 (2016)
   PUBMED   26944057
  REMARK    GeneRIF: results indicate that Armc8 may be a potential cancer
            marker in hepatocellular carcinoma
REFERENCE   5  (residues 1 to 600)
  AUTHORS   Jiang F, Shi Y, Lu H and Li G.
  TITLE     Armadillo Repeat-Containing Protein 8 (ARMC8) Silencing Inhibits
            Proliferation and Invasion in Osteosarcoma Cells
  JOURNAL   Oncol Res 24 (5), 381-389 (2016)
   PUBMED   27712595
  REMARK    GeneRIF: Knockdown of ARMC8 significantly inhibited osteosarcoma
            cell proliferation in vitro and markedly inhibited xenograft tumor
            growth in vivo. ARMC8 silencing also suppressed the
            epithelial-mesenchymal transition (EMT) phenotype, as well as
            inhibited the migration and invasion of osteosarcoma cells.
REFERENCE   6  (residues 1 to 600)
  AUTHORS   Jiang G, Zhang Y, Zhang X, Fan C, Wang L, Xu H, Yu J and Wang E.
  TITLE     ARMc8 indicates aggressive colon cancers and promotes invasiveness
            and migration of colon cancer cells
  JOURNAL   Tumour Biol 36 (11), 9005-9013 (2015)
   PUBMED   26081621
  REMARK    GeneRIF: invasiveness and migration capacity of HT29 cells
            transfected with ARMc8 were significantly greater than those of
            control cells (p < 0.001), while ARMc8 siRNA treatment
            significantly reduced cell invasion and migration in LoVo cells
REFERENCE   7  (residues 1 to 600)
  AUTHORS   Jiang G, Yang D, Wang L, Zhang X, Xu H, Miao Y, Wang E and Zhang Y.
  TITLE     A novel biomarker ARMc8 promotes the malignant progression of
            ovarian cancer
  JOURNAL   Hum Pathol 46 (10), 1471-1479 (2015)
   PUBMED   26232863
  REMARK    GeneRIF: ARMc8 may enhance the invasion and metastasis of ovarian
            cancer cells
REFERENCE   8  (residues 1 to 600)
  AUTHORS   Fan C, Zhao Y, Mao X, Miao Y, Lin X, Jiang G, Zhang X, Han Q, Luan
            L and Wang E.
  TITLE     Armc8 expression was elevated during atypia-to-carcinoma
            progression and associated with cancer development of breast
            carcinoma
  JOURNAL   Tumour Biol 35 (11), 11337-11343 (2014)
   PUBMED   25119601
  REMARK    GeneRIF: Armc8 expression was elevated during atypia-to-carcinoma
            progression and associated with cancer development of breast
            carcinoma.
REFERENCE   9  (residues 1 to 600)
  AUTHORS   Xie C, Jiang G, Fan C, Zhang X, Zhang Y, Miao Y, Lin X, Wu J, Wang
            L, Liu Y, Yu J, Yang L, Zhang D, Xu K and Wang E.
  TITLE     ARMC8alpha promotes proliferation and invasion of non-small cell
            lung cancer cells by activating the canonical Wnt signaling pathway
  JOURNAL   Tumour Biol 35 (9), 8903-8911 (2014)
   PUBMED   24894675
  REMARK    GeneRIF: Data suggest that armadillo repeat containing protein 8
            (ARMC8) might serve as a therapeutic target in non-small cell lung
            cancer (NSCLC).
REFERENCE   10 (residues 1 to 600)
  AUTHORS   Kobayashi N, Yang J, Ueda A, Suzuki T, Tomaru K, Takeno M, Okuda K
            and Ishigatsubo Y.
  TITLE     RanBPM, Muskelin, p48EMLP, p44CTLH, and the armadillo-repeat
            proteins ARMC8alpha and ARMC8beta are components of the CTLH
            complex
  JOURNAL   Gene 396 (2), 236-247 (2007)
   PUBMED   17467196
  REMARK    GeneRIF: RanBPM, ARMC8alpha, ARMC8beta, Muskelin, p48EMLP, and
            p44CTLH form complexes in cells
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK299769.1, AL096748.1 and BQ014283.1.
            
            Transcript Variant: This variant (6) differs in the 5' and 3' UTRs
            and has multiple differences in the coding region, including the
            use of a  downstream start codon, compared to variant 1. The
            encoded isoform (5) is longer and has a shorter N-terminus and
            distinct C-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.22500.1,
                                           SRR1803613.204051.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..600
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.3"
     Protein         1..600
                     /product="armadillo repeat-containing protein 8 isoform 5"
                     /note="armadillo repeat-containing protein 8; GID complex
                     subunit 5, VID28 homolog"
                     /calculated_mol_wt=67055
     Region          <3..139
                     /region_name="SRP1"
                     /note="Karyopherin (importin) alpha [Intracellular
                     trafficking and secretion]; COG5064"
                     /db_xref="CDD:227396"
     Region          15..48
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Site            order(39,43,47,81,85,89,133,137,141)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          56..92
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          108..142
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          <301..534
                     /region_name="COG5369"
                     /note="Uncharacterized conserved protein [Function
                     unknown]"
                     /db_xref="CDD:227663"
     Site            order(371,375,379,413,417,421,456,460,464)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          388..424
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          430..465
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          480..510
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     CDS             1..600
                     /gene="ARMC8"
                     /gene_synonym="GID5; HSPC056; S863-2; VID28"
                     /coded_by="NM_001282342.2:74..1876"
                     /note="isoform 5 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS75020.1"
                     /db_xref="GeneID:25852"
                     /db_xref="HGNC:HGNC:24999"
                     /db_xref="MIM:618521"
ORIGIN      
        1 mknavignnk qkanlivlga vprllyllqq etsstelkte cavvlgslam gtennvksll
       61 dchiipallq gllspdlkfi eaclrclrti ftspvtpeel lytgpdhqti lfnhgavqni
      121 ahlltslsyk vrmqalkcfs vlafenpqvs mtlvnvlvdg ellpqifvkm lqrdkpiemq
      181 ltsakcltym cragairtdd ncivlktlpc lvrmcskerl leervegaet layliepdve
      241 lqriasitdh liamladyfk ypssvsaitd ikrldhdlkh ahelrqaafk lyaslgande
      301 dirkkiiete nmmdrivtgl sessvkvrla avrclhslsr svqqlrtsfq dhavwkplmk
      361 vlqnapdeil vvassmlcnl llefspskep ilesgavell cgltqsenpa lrvngiwalm
      421 nmafqaeqki kadilrslst eqlfrllsds dlnvlmktlg llrnllstrp hidkimsthg
      481 kqimqavtli legehnievk eqtlcilani adgttakdli mtnddilqki kyymghshvk
      541 lqlaamfcis nliwneeegs qerqdklrdm givdilhkls qspdsnlcdk akmalqqyla
//
LOCUS       NP_001337494             557 aa            linear   PRI 26-DEC-2022
DEFINITION  tight junction-associated protein 1 isoform a [Homo sapiens].
ACCESSION   NP_001337494 XP_006715323
VERSION     NP_001337494.1
DBSOURCE    REFSEQ: accession NM_001350565.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 557)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 557)
  AUTHORS   Deng X, Sabino EC, Cunha-Neto E, Ribeiro AL, Ianni B, Mady C, Busch
            MP and Seielstad M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 557)
  AUTHORS   Kawabe H, Nakanishi H, Asada M, Fukuhara A, Morimoto K, Takeuchi M
            and Takai Y.
  TITLE     Pilt, a novel peripheral membrane protein at tight junctions in
            epithelial cells
  JOURNAL   J Biol Chem 276 (51), 48350-48355 (2001)
   PUBMED   11602598
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355802.13.
            On Apr 20, 2017 this sequence version replaced XP_006715323.1.
            
            Summary: This gene encodes a tight junction-associated protein.
            Incorporation of the encoded protein into tight junctions occurs at
            a late stage of formation of the junctions. The encoded protein
            localizes to the Golgi and may function in vesicle trafficking.
            Alternatively spliced transcript variants have been described. A
            related pseudogene exists on the X chromosome. [provided by RefSeq,
            Mar 2009].
            
            Transcript Variant: This variant (12), as well as variants 1, 2,
            8-11, and 13-15, encodes isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.358427.1,
                                           SRR1803615.466158.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157437, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..557
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     Protein         1..557
                     /product="tight junction-associated protein 1 isoform a"
                     /note="protein incorporated later into tight junctions;
                     tight junction protein 4 (peripheral); tight junction
                     associated protein 1 (peripheral)"
                     /calculated_mol_wt=61690
     Region          1..37
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylthreonine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Region          <17..>163
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          266..303
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Region          284..556
                     /region_name="Pilt"
                     /note="Protein incorporated later into Tight Junctions;
                     pfam15453"
                     /db_xref="CDD:434728"
     Site            300
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Region          309..328
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Site            318
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Site            320
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Site            345
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Region          364..409
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Site            422
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Region          439..557
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Site            491
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     Site            545
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5JTD0.1)"
     CDS             1..557
                     /gene="TJAP1"
                     /gene_synonym="PILT; TJP4"
                     /coded_by="NM_001350565.2:298..1971"
                     /note="isoform a is encoded by transcript variant 12"
                     /db_xref="CCDS:CCDS55004.1"
                     /db_xref="GeneID:93643"
                     /db_xref="HGNC:HGNC:17949"
                     /db_xref="MIM:612658"
ORIGIN      
        1 mtsaapakkp yrkappehre lrleipgsrl eqeepltdae rmkllqeene elrrrlasat
       61 rrtealerel eigqdclele lgqsreeldk fkdkfrrlqn sytasqrtnq eledklhtla
      121 slshswifai kkaemdrktl dweiveltnk lldakntink leelneryrl dcnlavqllk
      181 cnkshfrnhk fadlpcelqd mvrkhlhsgq eaaspgpaps lapgavvpts viarvlekpe
      241 slllnsaqsg sagrplaedv fvhvdmsegv pgdpasppap gsptpqpnge chslgtargs
      301 peeelplpaf eklnpyptps pphplypgrr viefsedkvr iprnsplpnc tyatrqaisl
      361 slveegsera rpspvpstpa saqasphhqp spapltlsap assasseedl lvswqrafvd
      421 rtpppaavaq rtafgrdalp elqrhfahsp adrdevvqap sarpeesell lptepdsgfp
      481 reeeelnlpi speeerqsll pinrgteegp gtshtegraw plpsssrpqr spkrmgvhhl
      541 hrkdsltqaq eqgnlln
//
LOCUS       NP_001317175             477 aa            linear   PRI 26-DEC-2022
DEFINITION  methionine aminopeptidase 2 isoform 4 [Homo sapiens].
ACCESSION   NP_001317175 XP_005268640
VERSION     NP_001317175.1
DBSOURCE    REFSEQ: accession NM_001330246.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 477)
  AUTHORS   Xie J, Rice MA, Chen Z, Cheng Y, Hsu EC, Chen M, Song G, Cui L,
            Zhou K, Castillo JB, Zhang CA, Shen B, Chin FT, Kunder CA, Brooks
            JD, Stoyanova T and Rao J.
  TITLE     In Vivo Imaging of Methionine Aminopeptidase II for Prostate Cancer
            Risk Stratification
  JOURNAL   Cancer Res 81 (9), 2510-2521 (2021)
   PUBMED   33637565
  REMARK    GeneRIF: In Vivo Imaging of Methionine Aminopeptidase II for
            Prostate Cancer Risk Stratification.
REFERENCE   2  (residues 1 to 477)
  AUTHORS   He WP, Guo YY, Yang GP, Lai HL, Sun TT, Zhang ZW, Ouyang LL, Zheng
            Y, Tian LM, Li XH, You ZS, Xie D and Yang GF.
  TITLE     CHD1L promotes EOC cell invasiveness and metastasis via the
            regulation of METAP2
  JOURNAL   Int J Med Sci 17 (15), 2387-2395 (2020)
   PUBMED   32922205
  REMARK    GeneRIF: CHD1L promotes EOC cell invasiveness and metastasis via
            the regulation of METAP2.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 477)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 477)
  AUTHORS   Lin M, Zhang X, Jia B and Guan S.
  TITLE     Suppression of glioblastoma growth and angiogenesis through
            molecular targeting of methionine aminopeptidase-2
  JOURNAL   J Neurooncol 136 (2), 243-254 (2018)
   PUBMED   29116484
  REMARK    GeneRIF: Results show that methionine aminopeptidase-2 (MetAP2)
            regulates angiogenesis in glioblastoma and identify MetAP2-specific
            substrates that may serve as candidates for clinical assay
            development.
REFERENCE   5  (residues 1 to 477)
  AUTHORS   Frottin F, Bienvenut WV, Bignon J, Jacquet E, Vaca Jacome AS, Van
            Dorsselaer A, Cianferani S, Carapito C, Meinnel T and Giglione C.
  TITLE     MetAP1 and MetAP2 drive cell selectivity for a potent anti-cancer
            agent in synergy, by controlling glutathione redox state
  JOURNAL   Oncotarget 7 (39), 63306-63323 (2016)
   PUBMED   27542228
  REMARK    GeneRIF: MetAP1 and MetAP2 have roles in driving cell selectivity
            for a potent anti-cancer agent in synergy, by controlling
            glutathione redox state
REFERENCE   6  (residues 1 to 477)
  AUTHORS   Joharapurkar AA, Dhanesha NA and Jain MR.
  TITLE     Inhibition of the methionine aminopeptidase 2 enzyme for the
            treatment of obesity
  JOURNAL   Diabetes Metab Syndr Obes 7, 73-84 (2014)
   PUBMED   24611021
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 477)
  AUTHORS   Arfin SM, Kendall RL, Hall L, Weaver LH, Stewart AE, Matthews BW
            and Bradshaw RA.
  TITLE     Eukaryotic methionyl aminopeptidases: two classes of
            cobalt-dependent enzymes
  JOURNAL   Proc Natl Acad Sci U S A 92 (17), 7714-7718 (1995)
   PUBMED   7644482
REFERENCE   8  (residues 1 to 477)
  AUTHORS   Prigmore E, Ahmed S, Best A, Kozma R, Manser E, Segal AW and Lim L.
  TITLE     A 68-kDa kinase and NADPH oxidase component p67phox are targets for
            Cdc42Hs and Rac1 in neutrophils
  JOURNAL   J Biol Chem 270 (18), 10717-10722 (1995)
   PUBMED   7738010
REFERENCE   9  (residues 1 to 477)
  AUTHORS   Li X and Chang YH.
  TITLE     Molecular cloning of a human complementary DNA encoding an
            initiation factor 2-associated protein (p67)
  JOURNAL   Biochim Biophys Acta 1260 (3), 333-336 (1995)
   PUBMED   7873610
REFERENCE   10 (residues 1 to 477)
  AUTHORS   Ray MK, Chakraborty A, Datta B, Chattopadhyay A, Saha D, Bose A,
            Kinzy TG, Wu S, Hileman RE, Merrick WC et al.
  TITLE     Characteristics of the eukaryotic initiation factor 2 associated
            67-kDa polypeptide
  JOURNAL   Biochemistry 32 (19), 5151-5159 (1993)
   PUBMED   8098621
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U13261.1, AK091730.1,
            AC018475.32 and CA450598.1.
            On Aug 20, 2016 this sequence version replaced XP_005268640.1.
            
            Summary: The protein encoded by this gene is a member of the
            methionyl aminopeptidase family. The encoded protein functions both
            by protecting the alpha subunit of eukaryotic initiation factor 2
            from inhibitory phosphorylation and by removing the amino-terminal
            methionine residue from nascent proteins. Increased expression of
            this gene is associated with various forms of cancer, and the
            anti-cancer drugs fumagillin and ovalicin inhibit the protein by
            irreversibly binding to its active site. Inhibitors of this gene
            have also been shown to be effective for the treatment of obesity.
            A pseudogene of this gene is located on chromosome 2. Several
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (5) uses an alternate in-frame
            splice junction in the 5' coding region compared to variant 1. The
            resulting isoform (4) has the same N- and C-termini but is one
            amino acid shorter compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.205314.1,
                                           SRR1803615.114090.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..477
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q22"
     Protein         1..477
                     /product="methionine aminopeptidase 2 isoform 4"
                     /EC_number="3.4.11.18"
                     /note="initiation factor 2-associated 67 kDa glycoprotein;
                     peptidase M 2; eIF-2-associated p67 homolog; testicular
                     tissue protein Li 17; methionine aminopeptidase 2"
                     /calculated_mol_wt=52690
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P50579.1)"
     Site            45
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P50579.1)"
     Site            59
                     /site_type="glycosylation"
                     /note="O-linked (GlcNAc) serine, alternate.
                     /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (P50579.1)"
     Site            59
                     /site_type="phosphorylation"
                     /note="Phosphoserine, alternate.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P50579.1)"
     Site            62
                     /site_type="glycosylation"
                     /note="O-linked (GlcNAc) serine, alternate.
                     /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (P50579.1)"
     Site            62
                     /site_type="phosphorylation"
                     /note="Phosphoserine, alternate.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P50579.1)"
     Site            73
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P50579.1)"
     Region          <106..477
                     /region_name="PTZ00053"
                     /note="methionine aminopeptidase 2; Provisional"
                     /db_xref="CDD:240246"
     CDS             1..477
                     /gene="METAP2"
                     /gene_synonym="MAP2; MNPEP; p67eIF2"
                     /coded_by="NM_001330246.2:29..1462"
                     /note="isoform 4 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS81724.1"
                     /db_xref="GeneID:10988"
                     /db_xref="HGNC:HGNC:16672"
                     /db_xref="MIM:601870"
ORIGIN      
        1 magveevaas gshlngdldp ddreegaast aeeaakkkrr kkkkskgpsa geqepdkesg
       61 asvdevarql ersaledker deddedgdgd gdgatgkkkk kkkkkrgpkv qtdppsvpic
      121 dlypngvfpk gqeceypptq dgrtaawrtt seekkaldqa seeiwndfre aaeahrqvrk
      181 yvmswikpgm tmieicekle dcsrkliken glnaglafpt gcslnncaah ytpnagdttv
      241 lqyddickid fgthisgrii dcaftvtfnp kydtllkavk datntgikca gidvrlcdvg
      301 eaiqevmesy eveidgktyq vkpirnlngh sigqyrihag ktvpivkgge atrmeegevy
      361 aietfgstgk gvvhddmecs hymknfdvgh vpirlprtkh llnvinenfg tlafcrrwld
      421 rlgeskylma lknlcdlgiv dpypplcdik gsytaqfeht illrptckev vsrgddy
//
LOCUS       NP_001334761             675 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger protein 184 isoform 2 [Homo sapiens].
ACCESSION   NP_001334761 XP_011513163
VERSION     NP_001334761.1
DBSOURCE    REFSEQ: accession NM_001347832.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 675)
  AUTHORS   Zhang B, Cui C, Yu H and Li G.
  TITLE     Association between ZNF184 and symptoms of Parkinson's disease in
            southern Chinese
  JOURNAL   Neurol Sci 41 (8), 2121-2126 (2020)
   PUBMED   32125537
  REMARK    GeneRIF: Association between ZNF184 and symptoms of Parkinson's
            disease in southern Chinese.
REFERENCE   2  (residues 1 to 675)
  AUTHORS   Zuber V, Marconett CN, Shi J, Hua X, Wheeler W, Yang C, Song L,
            Dale AM, Laplana M, Risch A, Witoelar A, Thompson WK, Schork AJ,
            Bettella F, Wang Y, Djurovic S, Zhou B, Borok Z, van der Heijden
            HF, de Graaf J, Swinkels D, Aben KK, McKay J, Hung RJ, Bikeboller
            H, Stevens VL, Albanes D, Caporaso NE, Han Y, Wei Y, Panadero MA,
            Mayordomo JI, Christiani DC, Kiemeney L, Andreassen OA, Houlston R,
            Amos CI, Chatterjee N, Laird-Offringa IA, Mills IG and Landi MT.
  TITLE     Pleiotropic Analysis of Lung Cancer and Blood Triglycerides
  JOURNAL   J Natl Cancer Inst 108 (12) (2016)
   PUBMED   27565901
  REMARK    GeneRIF: We found that 6p22.1 (rs6904596, ZNF184) was associated
            with both lung cancer and blood triglycerides.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 675)
  AUTHORS   Goldwurm S, Menzies ML, Banyer JL, Powell LW and Jazwinska EC.
  TITLE     Identification of a novel Krueppel-related zinc finger gene
            (ZNF184) mapping to 6p21.3
  JOURNAL   Genomics 40 (3), 486-489 (1997)
   PUBMED   9073517
REFERENCE   4  (residues 1 to 675)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB090589.1, CX870289.1,
            AL021918.1, BC022992.1 and BM675205.1.
            On Dec 15, 2016 this sequence version replaced XP_011513163.1.
            
            Summary: The protein encoded by this gene is predicted to be a
            Kruppel C2H2-type zinc-finger protein family member. Sequence
            analysis predicts that the protein contains two Kruppel associated
            box (KRAB) boxes in the N-terminus and highly conserved zinc finger
            motifs at the C-terminus. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Dec 2016].
            
            Transcript Variant: This variant (5) differs in the 5' UTR, uses an
            alternate splice site in the 5' coding region and initiates
            translation at an alternate downstream start codon, compared to
            variant 1. The encoded isoform (2) has a distinct N-terminus and is
            shorter than isoform 1. Variants 4 and 5 encode the same isoform
            (2).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1333553.1,
                                           SRR1660807.195488.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..675
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     Protein         1..675
                     /product="zinc finger protein 184 isoform 2"
                     /note="zinc finger protein 184 (Kruppel-like)"
                     /calculated_mol_wt=77898
     Region          148..168
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <172..333
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          176..196
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          204..224
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          232..252
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(237,239,241,243..244,247..248,251,265,267,271..272,
                     275..276,279,293,295,297,299..300,303..304,307)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          260..280
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          284..660
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          288..308
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          316..336
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          344..364
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          372..392
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          400..420
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          428..448
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(433,435,437,439..440,443..444,447,461,463,467..468,
                     471..472,475,489,491,493,495..496,499..500,503)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          456..476
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          484..504
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          512..532
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          540..560
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          568..588
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(573,575,577,579..580,583..584,587,601,603,607..608,
                     611..612,615,629,631,633,635..636,639..640,643)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          596..616
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          624..644
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          652..672
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..675
                     /gene="ZNF184"
                     /gene_synonym="kr-ZNF3"
                     /coded_by="NM_001347832.2:530..2557"
                     /note="isoform 2 is encoded by transcript variant 5"
                     /db_xref="GeneID:7738"
                     /db_xref="HGNC:HGNC:12975"
                     /db_xref="MIM:602277"
ORIGIN      
        1 mdhgakhssr ylcrehwnfl flldwetrle nsvsapepdi seeelspevi vekhkrddsw
       61 ssnlleswey egslerqqan qqtlpkeikv tektipswek gpvnnefgks vnvssnlvtq
      121 epspeetstk rsikqnsnpv kkeksckcne cgkafsycsa lirhqrthtg ekpykcnece
      181 kafsrsenli nhqrihtgdk pykcdqcgkg fiegpsltqh qrihtgekpy kcdecgkafs
      241 qrthlvqhqr ihtgekpytc necgkafsqr ghfmehqkih tgekpfkcde cdktftrsth
      301 ltqhqkihtg ektykcnecg kafngpstfi rhhmihtgek pyecnecgka fsqhsnltqh
      361 qkthtgekpy dcaecgksfs ywsslaqhlk ihtgekpykc necgkafsyc ssltqhrrih
      421 trekpfecse cgkafsylsn lnqhqkthtq ekayeckecg kafirsssla kherihtgek
      481 pyqchecgkt fsygssliqh rkihtgerpy kcnecgrafn qnihltqhkr ihtgakpyec
      541 aecgkafrhc sslaqhqkth teekpyqcnk cektfsqssh ltqhqrihtg ekpykcnecd
      601 kafsrsthlt ehqnthtgek pyncnecrkt fsqstyliqh qrihsgekpf gcndcgksfr
      661 yrsalnkhqr lhpgi
//
LOCUS       NP_001335424            1358 aa            linear   PRI 27-DEC-2022
DEFINITION  regulating synaptic membrane exocytosis protein 2 isoform p [Homo
            sapiens].
ACCESSION   NP_001335424
VERSION     NP_001335424.1
DBSOURCE    REFSEQ: accession NM_001348495.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1358)
  AUTHORS   Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van
            Dorpe J, Duenas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N,
            Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Beziere A,
            Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E and
            Perrault I.
  TITLE     Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod
            Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
  JOURNAL   Am J Hum Genet 106 (6), 859-871 (2020)
   PUBMED   32470375
  REMARK    GeneRIF: Loss of Function of RIMS2 Causes a Syndromic Congenital
            Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic
            Involvement.
            Erratum:[Am J Hum Genet. 2020 Sep 3;107(3):580. PMID: 32888510]
REFERENCE   2  (residues 1 to 1358)
  AUTHORS   Hirano M, Takada Y, Wong CF, Yamaguchi K, Kotani H, Kurokawa T,
            Mori MX, Snutch TP, Ronjat M, De Waard M and Mori Y.
  TITLE     C-terminal splice variants of P/Q-type Ca2+ channel CaV2.1 alpha1
            subunits are differentially regulated by Rab3-interacting molecule
            proteins
  JOURNAL   J Biol Chem 292 (22), 9365-9381 (2017)
   PUBMED   28377503
  REMARK    GeneRIF: Electrophysiological characterization of VDCC currents
            revealed that the suppressive effect of RIM2alpha on
            voltage-dependent inactivation (VDI) was stronger than that of
            RIM1alpha for the CaV2.1 variant containing the region encoded by
            exons 44 and 47.
REFERENCE   3  (residues 1 to 1358)
  AUTHORS   Gelernter J, Sherva R, Koesterer R, Almasy L, Zhao H, Kranzler HR
            and Farrer L.
  TITLE     Genome-wide association study of cocaine dependence and related
            traits: FAM53B identified as a risk gene
  JOURNAL   Mol Psychiatry 19 (6), 717-723 (2014)
   PUBMED   23958962
REFERENCE   4  (residues 1 to 1358)
  AUTHORS   Yoo JC, Lim Ty, Park JS, Hah YS, Park N, Hong SG, Park JY and Yoon
            TJ.
  TITLE     SYT14L, especially its C2 domain, is involved in regulating
            melanocyte differentiation
  JOURNAL   J Dermatol Sci 72 (3), 246-251 (2013)
   PUBMED   23999003
REFERENCE   5  (residues 1 to 1358)
  AUTHORS   Kim KT, Lee JS, Lee BW, Seok H, Jeon HS, Kim JH and Chung JH.
  TITLE     Association between regulating synaptic membrane exocytosis 2 gene
            polymorphisms and degenerative lumbar scoliosis
  JOURNAL   Biomed Rep 1 (4), 619-623 (2013)
   PUBMED   24648997
REFERENCE   6  (residues 1 to 1358)
  AUTHORS   Sun L, Bittner MA and Holz RW.
  TITLE     Rim, a component of the presynaptic active zone and modulator of
            exocytosis, binds 14-3-3 through its N terminus
  JOURNAL   J Biol Chem 278 (40), 38301-38309 (2003)
   PUBMED   12871946
REFERENCE   7  (residues 1 to 1358)
  AUTHORS   Fukuda M.
  TITLE     Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and
            Noc2. Identification of a critical determinant of Rab3A/Rab27A
            recognition by Rim2
  JOURNAL   J Biol Chem 278 (17), 15373-15380 (2003)
   PUBMED   12578829
REFERENCE   8  (residues 1 to 1358)
  AUTHORS   Wang Y and Sudhof TC.
  TITLE     Genomic definition of RIM proteins: evolutionary amplification of a
            family of synaptic regulatory proteins
  JOURNAL   Genomics 81 (2), 126-137 (2003)
   PUBMED   12620390
REFERENCE   9  (residues 1 to 1358)
  AUTHORS   Kashima Y, Miki T, Shibasaki T, Ozaki N, Miyazaki M, Yano H and
            Seino S.
  TITLE     Critical role of cAMP-GEFII--Rim2 complex in incretin-potentiated
            insulin secretion
  JOURNAL   J Biol Chem 276 (49), 46046-46053 (2001)
   PUBMED   11598134
REFERENCE   10 (residues 1 to 1358)
  AUTHORS   Fenster SD, Chung WJ, Zhai R, Cases-Langhoff C, Voss B, Garner AM,
            Kaempf U, Kindler S, Gundelfinger ED and Garner CC.
  TITLE     Piccolo, a presynaptic zinc finger protein structurally related to
            bassoon
  JOURNAL   Neuron 25 (1), 203-214 (2000)
   PUBMED   10707984
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012213.8, AC090686.4,
            AP001572.3, AC107933.6 and AP002849.2.
            
            Summary: The protein encoded by this gene is a presynaptic protein
            that interacts with RAB3, a protein important for normal
            neurotransmitter release. The encoded protein can also bind several
            other synaptic proteins, including UNC-13 homolog B,
            ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1.
            This protein is involved in synaptic membrane exocytosis.
            Polymorphisms in this gene have been associated with degenerative
            lumbar scoliosis. [provided by RefSeq, Feb 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.205073.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157437, SAMN03465402
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1358
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.3"
     Protein         1..1358
                     /product="regulating synaptic membrane exocytosis protein
                     2 isoform p"
                     /note="RAB3 interacting protein 3; regulating synaptic
                     membrane exocytosis protein 2; nuclear protein; non-small
                     cell lung cancer RimL3a protein; non-small cell lung
                     cancer RimL3c protein; rab3-interacting molecule 2;
                     rab-3-interacting protein 3; rab-3-interacting molecule 2;
                     Rab3-interacting protein"
                     /calculated_mol_wt=154224
     Region          30..154
                     /region_name="PHD_SF"
                     /note="PHD finger superfamily; cl22851"
                     /db_xref="CDD:451427"
     Region          607..688
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(614..617,619,671..672,675..676)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          741..867
                     /region_name="C2A_RIM1alpha"
                     /note="C2 domain first repeat contained in
                     Rab3-interacting molecule (RIM) proteins; cd04031"
                     /db_xref="CDD:175997"
     Site            order(772,778,833,835,843)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:175997"
     Region          1189..1334
                     /region_name="C2B_RIM1alpha"
                     /note="C2 domain second repeat contained in
                     Rab3-interacting molecule (RIM) proteins; cd04028"
                     /db_xref="CDD:175994"
     Site            order(1246,1250..1251,1253,1256,1284,1286,1288,1332..1333)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:175994"
     CDS             1..1358
                     /gene="RIMS2"
                     /gene_synonym="CRSDS; OBOE; RAB3IP3; RIM2"
                     /coded_by="NM_001348495.2:278..4354"
                     /note="isoform p is encoded by transcript variant 16"
                     /db_xref="GeneID:9699"
                     /db_xref="HGNC:HGNC:17283"
                     /db_xref="MIM:606630"
ORIGIN      
        1 msapvgprgr lapipaasqp plqpempdls hlteeerkii lavmdrqkke eekeqsvlkk
       61 lhqqfemyke qvkkmgeesq qqqeqkgdap tcgichktkf adgcghncsy cqtkfcarcg
      121 grvslrsnkv mwvcnlcrkq qeiltksgaw fynsgsntpq qpdqkvlrgl rneeapqekk
      181 pklheqtqfq gpsgdlsvpa veksrshglt rqhsikngsg vkhhiasdia sdrktssell
      241 nskiisrkrs psvsrdqnrr ydqreereey sqyatsdtam prspsdyadr rsqhepqfye
      301 dsdhlsyrds nrrshrhske yivddedves rdeyerqrre eeyqsryrsd pnlarypvkp
      361 qpyeeqmrih aevsrarher rhsdvslana dledsrisml rmdrpsrqrs iserraamen
      421 qrsysmertr eaqgpssyaq rttnhspptp rrsplpidrp dlrrtdslrk qhhldpssav
      481 rktkrekmet mlrndslssd qsesvrpppp kphkskkggk mrqislssse eelastpeyt
      541 scddveiese svsekgdmdy nwldhtswhs seaspmslhp vtwqpskdgd rligrillnk
      601 rlkdgsvprd sgamlglkvv ggkmtesgrl cafitkvkkg sladtvghlr pgdevlewng
      661 rllqgatfee vyniileskp epqvelvvsr pigdipripd sthaqlesss ssfesqkmdr
      721 psisvtspms pgmlrdvpqf lsgqlsiklw fdkvghqliv tilgakdlps redgrprnpy
      781 vkiyflpdrs dknkrrtktv kktlepkwnq tfiyspvhrr efrermleit lwdqarvree
      841 eseflgeili eletalldde phwyklqthd vsslplphps pymprrqlhg esptrrlqrs
      901 krisdsevsd ydcddgigvv sdyrhdgrdl qsstlsvpeq vmssnhcsps gsphrvdvig
      961 rtrswspsvp ppqsrnveqg lrgtrtmtgh yntisrmdrh rvmddhyspd rdrdceaadr
     1021 qpyhrsrste qrpllerttt rsrsterpdt nlmrsmpslm tgrsappspa lsrshprtgs
     1081 vqtspsstpv agrrgrqlpq lppkgtldrn ngvkeiepye eaggkklrst vqrstetgla
     1141 vemrnwmtrq asrestdgsm nsyssegnli fpgvrlasds qfsdfldglg paqlvgrqtl
     1201 atpamgdiqv gmmdkkgqle veiirarglv vkpgsktlpa pyvkvylldn gvciakkktk
     1261 varktleply qqllsfeesp qgkvlqiivw gdygrmdhks fmgvaqilld elelsnmvig
     1321 wfklfppssl vdptlapltr rasqssless tgpsysrs
//
LOCUS       NP_060922                141 aa            linear   PRI 27-DEC-2022
DEFINITION  transmembrane protein 242 [Homo sapiens].
ACCESSION   NP_060922 XP_001133890
VERSION     NP_060922.2
DBSOURCE    REFSEQ: accession NM_018452.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 141)
  AUTHORS   Carroll J, He J, Ding S, Fearnley IM and Walker JE.
  TITLE     TMEM70 and TMEM242 help to assemble the rotor ring of human ATP
            synthase and interact with assembly factors for complex I
  JOURNAL   Proc Natl Acad Sci U S A 118 (13) (2021)
   PUBMED   33753518
  REMARK    GeneRIF: TMEM70 and TMEM242 help to assemble the rotor ring of
            human ATP synthase and interact with assembly factors for complex
            I.
REFERENCE   2  (residues 1 to 141)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL390955.20 and BX284653.20.
            On or before Apr 29, 2007 this sequence version replaced
            XP_001133890.1, NP_060922.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.29188.1, BC029130.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144333, SAMEA2149398
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000400788.9/ ENSP00000383594.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..141
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.3"
     Protein         1..141
                     /product="transmembrane protein 242"
                     /note="UPF0463 transmembrane protein C6orf35"
                     /calculated_mol_wt=14627
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9NWH2.1)"
     Region          10..124
                     /region_name="DUF1358"
                     /note="Protein of unknown function (DUF1358); pfam07096"
                     /db_xref="CDD:429291"
     Site            30..50
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NWH2.1)"
     Site            82..102
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NWH2.1)"
     CDS             1..141
                     /gene="TMEM242"
                     /gene_synonym="BM033; C6orf35"
                     /coded_by="NM_018452.6:21..446"
                     /db_xref="CCDS:CCDS43519.1"
                     /db_xref="GeneID:729515"
                     /db_xref="HGNC:HGNC:17206"
ORIGIN      
        1 metagaatgq pasgleapgs tndrlflvkg giflgtvaaa gmlagfittl slakkkspew
       61 fnkgsmataa lpesgsslal ralgwgslya wcgvgvisfa vwkalgvhsm ndfrskmqsi
      121 fptipknses aveweetlks k
//
LOCUS       NP_001153519             820 aa            linear   PRI 29-DEC-2022
DEFINITION  thioredoxin domain-containing protein 16 isoform 2 precursor [Homo
            sapiens].
ACCESSION   NP_001153519
VERSION     NP_001153519.1
DBSOURCE    REFSEQ: accession NM_001160047.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 820)
  AUTHORS   Harz C, Ludwig N, Lang S, Werner TV, Galata V, Backes C, Schmitt K,
            Nickels R, Krause E, Jung M, Rettig J, Keller A, Menger M,
            Zimmermann R and Meese E.
  TITLE     Secretion and immunogenicity of the meningioma-associated antigen
            TXNDC16
  JOURNAL   J Immunol 193 (6), 3146-3154 (2014)
   PUBMED   25122923
  REMARK    GeneRIF: in addition to reported occurrence as a soluble
            endoplasmic reticulum-luminal glycoprotein, TXNDC16 shows
            endoplasmic reticulum-associated subcellular localization in
            cytosol, as confirmed by confocal microscopy, molecular mass shift,
            flow cytometry
REFERENCE   2  (residues 1 to 820)
  AUTHORS   Zeng,Z., Feingold,E., Wang,X., Weeks,D.E., Lee,M., Cuenco,D.T.,
            Broffitt,B., Weyant,R.J., Crout,R., McNeil,D.W., Levy,S.M.,
            Marazita,M.L. and Shaffer,J.R.
  TITLE     Genome-wide association study of primary dentition pit-and-fissure
            and smooth surface caries
  JOURNAL   Caries Res 48 (4), 330-338 (2014)
   PUBMED   24556642
REFERENCE   3  (residues 1 to 820)
  AUTHORS   Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA,
            Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J,
            Jugurnauth-Little S, Dadaev T, Neal DE, Hamdy FC, Donovan JL, Muir
            K, Giles GG, Severi G, Wiklund F, Gronberg H, Haiman CA, Schumacher
            F, Henderson BE, Le Marchand L, Lindstrom S, Kraft P, Hunter DJ,
            Gapstur S, Chanock SJ, Berndt SI, Albanes D, Andriole G, Schleutker
            J, Weischer M, Canzian F, Riboli E, Key TJ, Travis RC, Campa D,
            Ingles SA, John EM, Hayes RB, Pharoah PD, Pashayan N, Khaw KT,
            Stanford JL, Ostrander EA, Signorello LB, Thibodeau SN, Schaid D,
            Maier C, Vogel W, Kibel AS, Cybulski C, Lubinski J, Cannon-Albright
            L, Brenner H, Park JY, Kaneva R, Batra J, Spurdle AB, Clements JA,
            Teixeira MR, Dicks E, Lee A, Dunning AM, Baynes C, Conroy D,
            Maranian MJ, Ahmed S, Govindasami K, Guy M, Wilkinson RA, Sawyer
            EJ, Morgan A, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker
            CC, Van As NJ, Woodhouse CJ, Thompson A, Dudderidge T, Ogden C,
            Cooper CS, Lophatananon A, Cox A, Southey MC, Hopper JL, English
            DR, Aly M, Adolfsson J, Xu J, Zheng SL, Yeager M, Kaaks R, Diver
            WR, Gaudet MM, Stern MC, Corral R, Joshi AD, Shahabi A, Wahlfors T,
            Tammela TL, Auvinen A, Virtamo J, Klarskov P, Nordestgaard BG,
            Roder MA, Nielsen SF, Bojesen SE, Siddiq A, Fitzgerald LM, Kolb S,
            Kwon EM, Karyadi DM, Blot WJ, Zheng W, Cai Q, McDonnell SK,
            Rinckleb AE, Drake B, Colditz G, Wokolorczyk D, Stephenson RA,
            Teerlink C, Muller H, Rothenbacher D, Sellers TA, Lin HY, Slavov C,
            Mitev V, Lose F, Srinivasan S, Maia S, Paulo P, Lange E, Cooney KA,
            Antoniou AC, Vincent D, Bacot F, Tessier DC, Kote-Jarai Z and
            Easton DF.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391e3912 (2013)
   PUBMED   23535732
REFERENCE   4  (residues 1 to 820)
  AUTHORS   Shi M, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski
            JB, Wu T, Murray T, Redett RJ, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou
            YH, Chen PK, Wang H, Ye X, Yeow V, Chong SS, Shi B, Christensen K,
            Scott AF, Patel P, Cheah F and Beaty TH.
  TITLE     Genome wide study of maternal and parent-of-origin effects on the
            etiology of orofacial clefts
  JOURNAL   Am J Med Genet A 158A (4), 784-794 (2012)
   PUBMED   22419666
REFERENCE   5  (residues 1 to 820)
  AUTHORS   Riemer J, Hansen HG, Appenzeller-Herzog C, Johansson L and Ellgaard
            L.
  TITLE     Identification of the PDI-family member ERp90 as an interaction
            partner of ERFAD
  JOURNAL   PLoS One 6 (2), e17037 (2011)
   PUBMED   21359175
  REMARK    GeneRIF: The function of ERp90 is related to substrate recruitment
            or delivery to the ERAD retrotranslocation machinery by ERFAD.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 820)
  AUTHORS   Gonzalez-Begne M, Lu B, Han X, Hagen FK, Hand AR, Melvin JE and
            Yates JR.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB083799.1, BC144469.1 and BC142650.1.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region compared to variant 1. This
            results in a shorter protein (isoform 2) compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC144469.1, SRR1660809.117126.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..820
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.1"
     Protein         1..820
                     /product="thioredoxin domain-containing protein 16 isoform
                     2 precursor"
                     /note="thioredoxin domain-containing protein 16"
                     /calculated_mol_wt=89951
     sig_peptide     1..27
                     /note="/evidence=ECO:0000255, ECO:0000269|PubMed:25122923;
                     propagated from UniProtKB/Swiss-Prot (Q9P2K2.4)"
                     /calculated_mol_wt=3108
     Region          389..487
                     /region_name="PDI_a_family"
                     /note="Protein Disulfide Isomerase (PDIa) family, redox
                     active TRX domains; composed of eukaryotic proteins
                     involved in oxidative protein folding in the endoplasmic
                     reticulum (ER) by acting as catalysts and folding
                     assistants. Members of this family include PDI...;
                     cd02961"
                     /db_xref="CDD:239259"
     Site            order(414,417)
                     /site_type="active"
                     /note="catalytic residues [active]"
                     /db_xref="CDD:239259"
     Site            455
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9P2K2.4)"
     Region          528..717
                     /region_name="Thioredoxin_6"
                     /note="Thioredoxin-like domain; pfam13848"
                     /db_xref="CDD:404691"
     Region          757..782
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2K2.4)"
     Region          811..814
                     /region_name="Mediates endoplasmic reticulum retention.
                     /evidence=ECO:0000269|PubMed:25122923"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2K2.4)"
     CDS             1..820
                     /gene="TXNDC16"
                     /gene_synonym="ERp90; KIAA1344"
                     /coded_by="NM_001160047.2:372..2834"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="GeneID:57544"
                     /db_xref="HGNC:HGNC:19965"
                     /db_xref="MIM:616179"
ORIGIN      
        1 mfsgfnvfrv gisfvimcif ymptvnslpe lspqkyfstl qpgkaslayf cqadsprtsv
       61 fleelneavr plqdygisva kvncvkeeis rycgkekdlm kaylfkgnil lrefptdtlf
      121 dvnaivahvl fevkyitnle dlqnienalk gkaniifsyv raigipehra vmeaafvygt
      181 tyqfvlttei allesigsed veyahlyffh cklvldltqq crrtlmeqpl ttlnihlfik
      241 tmkaplltev aedpqqvstv hlqlglplvf ivsqqatyea drrtaewvaw rllgkagvll
      301 llrdslevni pqdanvvfkr aeegvpvefl vlhdvdliis hvennmhiee iqededndme
      361 gpdidvqdde vaetvfrdrk rklpleltve lteetfnatv masdsivlfy agwqavsmaf
      421 lqsyidvavk lkgtstmllt rincadwsdv ctkqnvtefp iikmykkgen pvsyagmlgt
      481 edllkfiqln risypvnits iqeaeeylsg elykdlilys svsvlglfsp tmktakedfs
      541 eagnylkgyv itgiyseedv lllstkyaas lpalllarht egkiesipla sthaqdivqi
      601 itdallemfp eitvenlpsy frlqkpllil fsdgtvnpqy kkailtlvkq kyldsftpcw
      661 lnlkntpvgr gilrayfdpl pplpllvlvn lhsggqvfaf psdqaiieen lvlwlkklea
      721 glenhitilp aqewkpplpa ydflsmidaa tsqrgtrkvp kcmketdvqe ndkeqhedks
      781 avrkepietl rikhwnrsnw fkeaeksfrr dkelgcskvn
//
LOCUS       NP_001304094              96 aa            linear   PRI 30-DEC-2022
DEFINITION  small nuclear ribonucleoprotein G isoform b [Homo sapiens].
ACCESSION   NP_001304094
VERSION     NP_001304094.1
DBSOURCE    REFSEQ: accession NM_001317165.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 96)
  AUTHORS   Campagne S, de Vries T, Malard F, Afanasyev P, Dorn G, Dedic E,
            Kohlbrecher J, Boehringer D, Clery A and Allain FH.
  TITLE     An in vitro reconstituted U1 snRNP allows the study of the
            disordered regions of the particle and the interactions with
            proteins and ligands
  JOURNAL   Nucleic Acids Res 49 (11), e63 (2021)
   PUBMED   33677607
REFERENCE   2  (residues 1 to 96)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 96)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 96)
  AUTHORS   Lan Y, Lou J, Hu J, Yu Z, Lyu W and Zhang B.
  TITLE     Downregulation of SNRPG induces cell cycle arrest and sensitizes
            human glioblastoma cells to temozolomide by targeting Myc through a
            p53-dependent signaling pathway
  JOURNAL   Cancer Biol Med 17 (1), 112-131 (2020)
   PUBMED   32296580
  REMARK    GeneRIF: Downregulation of SNRPG induces cell cycle arrest and
            sensitizes human glioblastoma cells to temozolomide by targeting
            Myc through a p53-dependent signaling pathway.
REFERENCE   5  (residues 1 to 96)
  AUTHORS   Yi H, Mu L, Shen C, Kong X, Wang Y, Hou Y and Zhang R.
  TITLE     Negative cooperativity between Gemin2 and RNA provides insights
            into RNA selection and the SMN complex's release in snRNP assembly
  JOURNAL   Nucleic Acids Res 48 (2), 895-911 (2020)
   PUBMED   31799625
REFERENCE   6  (residues 1 to 96)
  AUTHORS   Fury MG, Zhang W, Christodoulopoulos I and Zieve GW.
  TITLE     Multiple protein: protein interactions between the snRNP common
            core proteins
  JOURNAL   Exp Cell Res 237 (1), 63-69 (1997)
   PUBMED   9417867
REFERENCE   7  (residues 1 to 96)
  AUTHORS   Liu Q, Fischer U, Wang F and Dreyfuss G.
  TITLE     The spinal muscular atrophy disease gene product, SMN, and its
            associated protein SIP1 are in a complex with spliceosomal snRNP
            proteins
  JOURNAL   Cell 90 (6), 1013-1021 (1997)
   PUBMED   9323129
REFERENCE   8  (residues 1 to 96)
  AUTHORS   Plessel G, Luhrmann R and Kastner B.
  TITLE     Electron microscopy of assembly intermediates of the snRNP core:
            morphological similarities between the RNA-free (E.F.G) protein
            heteromer and the intact snRNP core
  JOURNAL   J Mol Biol 265 (2), 87-94 (1997)
   PUBMED   9020971
REFERENCE   9  (residues 1 to 96)
  AUTHORS   Hermann H, Fabrizio P, Raker VA, Foulaki K, Hornig H, Brahms H and
            Luhrmann R.
  TITLE     snRNP Sm proteins share two evolutionarily conserved sequence
            motifs which are involved in Sm protein-protein interactions
  JOURNAL   EMBO J 14 (9), 2076-2088 (1995)
   PUBMED   7744013
REFERENCE   10 (residues 1 to 96)
  AUTHORS   Heinrichs V, Hackl W and Luhrmann R.
  TITLE     Direct binding of small nuclear ribonucleoprotein G to the Sm site
            of small nuclear RNA. Ultraviolet light cross-linking of protein G
            to the AAU stretch within the Sm site (AAUUUGUGG) of U1 small
            nuclear ribonucleoprotein reconstituted in vitro
  JOURNAL   J Mol Biol 227 (1), 15-28 (1992)
   PUBMED   1387914
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DW428820.1, BP424287.1 and
            AI742299.1.
            
            Summary: The protein encoded by this gene is a component of the U1,
            U2, U4, and U5 small nuclear ribonucleoprotein complexes,
            precursors of the spliceosome. The encoded protein may also be a
            part of the U7 small nuclear ribonucleoprotein complex, which
            participates in the processing of the 3' end of histone
            transcripts. Several transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Nov
            2015].
            
            Transcript Variant: This variant (2) contains an alternate internal
            exon compared to variant 1, that causes a frameshift. The resulting
            isoform (b) has a longer and distinct C-terminus compared to
            isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BP424287.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..96
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     Protein         1..96
                     /product="small nuclear ribonucleoprotein G isoform b"
                     /EC_number="1.8.1.4"
                     /note="small nuclear ribonucleoprotein G; snRNP-G; sm
                     protein G"
                     /calculated_mol_wt=10669
     Region          5..>60
                     /region_name="Sm_G"
                     /note="Sm protein G; cd01719"
                     /db_xref="CDD:212466"
     Site            order(17..23,25..37,39..43)
                     /site_type="other"
                     /note="Sm1 motif"
                     /db_xref="CDD:212466"
     CDS             1..96
                     /gene="SNRPG"
                     /gene_synonym="Sm-G; SMG"
                     /coded_by="NM_001317165.2:92..382"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS82463.1"
                     /db_xref="GeneID:6637"
                     /db_xref="HGNC:HGNC:11163"
                     /db_xref="MIM:603542"
ORIGIN      
        1 mskahppelk kfmdkklslk lnggrhvqgi lrgfdpfmnl videcvemat sgqqnnigmv
       61 dnipnkavsp kflkkvnqkg qltfskllsi ktskew
//
LOCUS       NP_001341286              93 aa            linear   PRI 30-DEC-2022
DEFINITION  putative uncharacterized protein C6orf52 isoform 2 [Homo sapiens].
ACCESSION   NP_001341286
VERSION     NP_001341286.1
DBSOURCE    REFSEQ: accession NM_001354357.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 93)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (residues 1 to 93)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL,
            Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P,
            Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy
            SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH,
            Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW,
            Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J,
            Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M,
            Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW,
            Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J,
            Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U,
            Smailus DE, Schnerch A, Schein JE, Jones SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX280692.1 and AI621292.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            CDS exon combination :: BE670432.1, AI621292.1 [ECO:0000331]
            RNAseq introns       :: partial sample support SAMEA1968968,
                                    SAMEA2144835 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..93
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.2"
     Protein         1..93
                     /product="putative uncharacterized protein C6orf52 isoform
                     2"
                     /calculated_mol_wt=10320
     Region          <3..88
                     /region_name="Trnau1ap"
                     /note="Selenocysteine tRNA 1 associated proteins;
                     pfam17654"
                     /db_xref="CDD:435948"
     CDS             1..93
                     /gene="C6orf52"
                     /coded_by="NM_001354357.2:367..648"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS87364.1"
                     /db_xref="GeneID:347744"
                     /db_xref="HGNC:HGNC:20881"
ORIGIN      
        1 mettplaenq dedplevtsq yvaqadlklp dlsnslvsas qsvgvtdphl hlnieesnqe
       61 fmvkseelyd slmnchwqpl dtvhseipde tpk
//
LOCUS       NP_001374625             984 aa            linear   PRI 30-DEC-2022
DEFINITION  nuclear envelope pore membrane protein POM 121 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001374625 XP_006716259
VERSION     NP_001374625.1
DBSOURCE    REFSEQ: accession NM_001387696.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 984)
  AUTHORS   Becker F, Offermann A, Roesch MC, Joerg V, Roth D, Lubczyk V,
            Kuefer R, Sailer V, Kirfel J, Merseburger AS and Perner S.
  TITLE     Up-regulation of POM121 is linked to prostate cancer aggressiveness
            and serves as a prognostic biomarker
  JOURNAL   Urol Oncol 40 (8), 380 (2022)
   PUBMED   35725938
  REMARK    GeneRIF: Up-regulation of POM121 is linked to prostate cancer
            aggressiveness and serves as a prognostic biomarker.
REFERENCE   2  (residues 1 to 984)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (residues 1 to 984)
  AUTHORS   Zhang S, Zheng C, Li D, Bei C, Zhang H, Tian R, Song X, Zhu X and
            Tan S.
  TITLE     Clinical Significance of POM121 Expression in Lung Cancer
  JOURNAL   Genet Test Mol Biomarkers 24 (12), 819-824 (2020)
   PUBMED   33296260
  REMARK    GeneRIF: Clinical Significance of POM121 Expression in Lung Cancer.
REFERENCE   4  (residues 1 to 984)
  AUTHORS   Zhao R, Tang G, Wang T, Zhang L, Wang W, Zhao Q and Zhao K.
  TITLE     POM121 is a novel marker for predicting the prognosis of laryngeal
            cancer
  JOURNAL   Histol Histopathol 35 (11), 1285-1293 (2020)
   PUBMED   33016327
  REMARK    GeneRIF: POM121 is a novel marker for predicting the prognosis of
            laryngeal cancer.
REFERENCE   5  (residues 1 to 984)
  AUTHORS   Coyne AN, Zaepfel BL, Hayes L, Fitchman B, Salzberg Y, Luo EC,
            Bowen K, Trost H, Aigner S, Rigo F, Yeo GW, Harel A, Svendsen CN,
            Sareen D and Rothstein JD.
  TITLE     G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific
            Nucleoporins in C9orf72 ALS/FTD
  JOURNAL   Neuron 107 (6), 1124-1140 (2020)
   PUBMED   32673563
  REMARK    GeneRIF: G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in
            Specific Nucleoporins in C9orf72 ALS/FTD.
REFERENCE   6  (residues 1 to 984)
  AUTHORS   Funakoshi T, Maeshima K, Yahata K, Sugano S, Imamoto F and Imamoto
            N.
  TITLE     Two distinct human POM121 genes: requirement for the formation of
            nuclear pore complexes
  JOURNAL   FEBS Lett 581 (25), 4910-4916 (2007)
   PUBMED   17900573
  REMARK    GeneRIF: RNAi experiments showed that efficient depletion of both
            Pom121 proteins significantly reduces assembled nuclear pore
            complexes on nuclear envelope.
REFERENCE   7  (residues 1 to 984)
  AUTHORS   Le Rouzic E, Mousnier A, Rustum C, Stutz F, Hallberg E, Dargemont C
            and Benichou S.
  TITLE     Docking of HIV-1 Vpr to the nuclear envelope is mediated by the
            interaction with the nucleoporin hCG1
  JOURNAL   J Biol Chem 277 (47), 45091-45098 (2002)
   PUBMED   12228227
REFERENCE   8  (residues 1 to 984)
  AUTHORS   Daigle N, Beaudouin J, Hartnell L, Imreh G, Hallberg E,
            Lippincott-Schwartz J and Ellenberg J.
  TITLE     Nuclear pore complexes form immobile networks and have a very low
            turnover in live mammalian cells
  JOURNAL   J Cell Biol 154 (1), 71-84 (2001)
   PUBMED   11448991
REFERENCE   9  (residues 1 to 984)
  AUTHORS   Bodoor K, Shaikh S, Enarson P, Chowdhury S, Salina D, Raharjo WH
            and Burke B.
  TITLE     Function and assembly of nuclear pore complex proteins
  JOURNAL   Biochem Cell Biol 77 (4), 321-329 (1999)
   PUBMED   10546895
  REMARK    Review article
REFERENCE   10 (residues 1 to 984)
  AUTHORS   Hallberg E, Wozniak RW and Blobel G.
  TITLE     An integral membrane protein of the pore membrane domain of the
            nuclear envelope contains a nucleoporin-like region
  JOURNAL   J Cell Biol 122 (3), 513-521 (1993)
   PUBMED   8335683
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC211469.4 and AC211476.5.
            On Oct 10, 2020 this sequence version replaced XP_006716259.1.
            
            Summary: This gene encodes a transmembrane protein that localizes
            to the inner nuclear membrane and forms a core component of the
            nuclear pore complex, which mediates transport to and from the
            nucleus. The encoded protein may anchor this complex to the nuclear
            envelope. There are multiple related genes and pseudogenes for this
            gene on chromosomes 5, 7, 15, and 22. Alternatively spliced
            transcript variants encoding different isoforms have been observed.
            [provided by RefSeq, Jul 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.383895.1,
                                           SRR14038194.2804911.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..984
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     Protein         1..984
                     /product="nuclear envelope pore membrane protein POM 121
                     isoform 2"
                     /note="nuclear pore membrane protein 121 kDa; nuclear
                     envelope pore membrane protein POM 121; nucleoporin
                     Nup121; nuclear envelope pore membrane protein POM 121A;
                     POM121 membrane glycoprotein"
                     /calculated_mol_wt=98906
     Region          56..287
                     /region_name="POM121"
                     /note="POM121 family; pfam15229"
                     /db_xref="CDD:434551"
     Region          <362..725
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..984
                     /gene="POM121"
                     /gene_synonym="P145; POM121A"
                     /coded_by="NM_001387696.1:1050..4004"
                     /note="isoform 2 is encoded by transcript variant 15"
                     /db_xref="CCDS:CCDS5542.1"
                     /db_xref="GeneID:9883"
                     /db_xref="HGNC:HGNC:19702"
                     /db_xref="MIM:615753"
ORIGIN      
        1 mvcspvtvri appdrrfsrs aipeqiisst lsspssnapd pcaketvlsa lkekekkrtv
       61 eeedqifldg qenkrrrhds sgsghsafep lvangvpasf vpkpgslkrg lnsqssddhl
      121 nkrsrsssms sltgayasgi psssrnaits sysstrgisq lwkrngpsss pfsspassrs
      181 qtperpakki reeelchhss sstplaadre sqgekaadtt prkkqnsnsq stpgssgqrk
      241 rkvqllpsrr geqltlpppp qlgysitaed ldlekkaslq wfnqaledks daasnsvtet
      301 ppitqpsftf tlpaaapasp ptsllapstn plleslkkmq tppslppcpe sagaatteal
      361 sppktpsllp plglsqsgpp gllpspsfds kppttllgli papsmvpatd tkapptlqae
      421 tatkpqatsa pspapkqsfl fgtqntspss paapaassap pmfkpiftap pksekegptp
      481 pgpsvtatap sssslpttts ttaptfqpvf ssmgppasvp lpapffkqtt tpatapttta
      541 plftglasat savapitsas pstdsaskpa fgfginsvss ssvstttsta taasqpflfg
      601 apqasaasft pamgsifqfg kppalptttt vttfsqslht avptatsssa adfsgfgstl
      661 atsapatssq ptltfsntst ptfnipfgss aksplpsypg anpqpafgaa egqppgaakp
      721 alapsfgssf tfgnsaapaa aptpappsmi kvvpayvptp ihpifggath safglkatas
      781 afgapassqp afggstavff gaatssgfga ttqtassgss ssvfgsttps pftfggsaap
      841 agsgsfginv atpgsstttg afsfgagqsg statstpfag glgqnalgtt gqstpfafnv
      901 sstteskpvf ggtatptfgl ntpapgvgts gsslsfgass apaqgfvgva pfgsaalsfs
      961 igagsktpga rqrlqarrqh trkk
//
LOCUS       NP_001341466             869 aa            linear   PRI 30-DEC-2022
DEFINITION  zinc finger protein 484 isoform d [Homo sapiens].
ACCESSION   NP_001341466
VERSION     NP_001341466.1
DBSOURCE    REFSEQ: accession NM_001354537.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 869)
  AUTHORS   Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Heard-Costa N, Lohman
            K, Johnson AD, Foster MC, Greenawalt DM, Griffin P, Ding J, Newman
            AB, Tylavsky F, Miljkovic I, Kritchevsky SB, Launer L, Garcia M,
            Eiriksdottir G, Carr JJ, Gudnason V, Harris TB, Cupples LA and
            Borecki IB.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
REFERENCE   2  (residues 1 to 869)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   3  (residues 1 to 869)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL136981.22.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1475429.1,
                                           SRR1803617.199169.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267753 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..869
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.31"
     Protein         1..869
                     /product="zinc finger protein 484 isoform d"
                     /note="KRAB box containing C2H2 type zinc finger
                     bA526D8.4"
                     /calculated_mol_wt=99871
     Region          25..84
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          298..318
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(298,301,314,318)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          347..367
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          376..395
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          387..412
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          403..423
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(403,406,419,423)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(408,410,412,414..415,418..419,422,436,438,442..443,
                     446..447,450,464,466,468,470..471,474..475,478)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          427..828
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          431..451
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          459..479
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          487..507
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(487,490,503,507)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(492,494,496,498..499,502..503,506,520,522,526..527,
                     530..531,534,548,550,552,554..555,558..559,562)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          515..535
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          543..563
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          571..591
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          599..619
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(599,602,615,619)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          627..647
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(627,630,643,647)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          655..675
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          683..703
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(683,686,699,703)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          711..731
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(711,714,727,731)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(716,718,720,722..723,726..727,730,744,746,750..751,
                     754..755,758,772,774,776,778..779,782..783,786)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          739..759
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          767..787
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          795..815
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..869
                     /gene="ZNF484"
                     /gene_synonym="BA526D8.4"
                     /coded_by="NM_001354537.2:199..2808"
                     /note="isoform d is encoded by transcript variant 7"
                     /db_xref="GeneID:83744"
                     /db_xref="HGNC:HGNC:23385"
ORIGIN      
        1 msvlslpisa plseepkmtk slesvsfkdv tvdfsrdewq qldlaqksly revmlenyfn
       61 lisvgcqvpk pevifsleqe epcmldgeip sqsrpdgdig fgplqqrmse evsfqseini
      121 nlftrddpys ileelwkdde htrkcgenqn kplsrvvfin kktlandsif eykdigeivh
      181 vnthlvssrk rphncnscgk nlepiitlyn rnnatensdk tigdgdifth lnshtevtac
      241 ecnqcgkplh hkqaliqqqk ihtreslylf sdyvnvfspk shafahesic aeekqheche
      301 ceavftqksq ldgsqrvyag icteyekdfs lksnrqktpy egnyykcsdy grafiqksdl
      361 frcqrihsge kpyeysecek nlpqnsnlni hkkihtggkh fectecgkaf trkstlsmhq
      421 kihtgekpyv ctecgkafir kshfitheri htgekpyecs dcgksfikks qlhvhqriht
      481 genpficsec gkvfthktnl iihqkihtge rpyictvcgk aftdrsnlik hqkihtgekp
      541 ykcsdcgksf twksrlrihq kchtgerhye csecgkafiq kstlsmhqri hrgekpyvct
      601 ecgkaffhks hfitheriht gekpyecsic gksftkksql hvhqqihtge kpyrcaecgk
      661 aftdrsnlft hqkihtgekp ykcsdcgkaf trksglhihq qshtgerhye csecgkafar
      721 kstlimhqri htgekpyicn ecgksfiqks hlnrhrriht gekpyecsdc gksfikksql
      781 hehhrihtge kpyicaecgk aftirsnlik hqkihtkqkp ykcsdlgkal nwkpqlsmpq
      841 ksdngevecs mpqlwcgdse gdqgqlssi
//
LOCUS       NP_001182054             158 aa            linear   PRI 30-DEC-2022
DEFINITION  uncharacterized protein C16orf95 isoform 2 [Homo sapiens].
ACCESSION   NP_001182054 XP_002344147 XP_003118773
VERSION     NP_001182054.1
DBSOURCE    REFSEQ: accession NM_001195125.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 158)
  AUTHORS   Hosseinzadeh N, Mehrabi Y, Daneshpour MS, Zayeri F, Guity K and
            Azizi F.
  TITLE     Identifying new associated pleiotropic SNPs with lipids by
            simultaneous test of multiple longitudinal traits: An Iranian
            family-based study
  JOURNAL   Gene 692, 156-169 (2019)
   PUBMED   30658068
REFERENCE   2  (residues 1 to 158)
  AUTHORS   Oshikawa M, Sugai Y, Usami R, Ohtoko K, Toyama S and Kato S.
  TITLE     Fine expression profiling of full-length transcripts using a
            size-unbiased cDNA library prepared with the vector-capping method
  JOURNAL   DNA Res 15 (3), 123-136 (2008)
   PUBMED   18487259
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010531.8, BC015536.2 and BU839368.1.
            On or before Apr 6, 2011 this sequence version replaced
            XP_003118773.1, XP_002344147.1.
            
            Transcript Variant: This variant (2) lacks two alternate exons that
            result in a frameshift in the 3' coding region, compared to variant
            1. The resulting isoform (2) has a shorter and distinct C-terminus,
            compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK026130.1, BC015536.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..158
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.2"
     Protein         1..158
                     /product="uncharacterized protein C16orf95 isoform 2"
                     /note="uncharacterized protein C16orf95"
                     /calculated_mol_wt=16662
     Region          1..26
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H693.1)"
     Region          70..>110
                     /region_name="DUF4568"
                     /note="Domain of unknown function (DUF4568); pfam15132"
                     /db_xref="CDD:434485"
     CDS             1..158
                     /gene="C16orf95"
                     /coded_by="NM_001195125.3:151..627"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS54049.1"
                     /db_xref="GeneID:100506581"
                     /db_xref="HGNC:HGNC:40033"
ORIGIN      
        1 mrasrsppsp rrchhhheat gaasgaaagg pgagcvglcr laltpsaqdg rnstfqtykk
       61 evclprhsmh pgpwaiccec qtrfggrlpv srveaalpyw vplslrprkq hpcwmhaagt
      121 taggsavmsa ccpsssssrp ptrtsyrllq rvccpsas
//
LOCUS       NP_001885                416 aa            linear   PRI 30-DEC-2022
DEFINITION  casein kinase I isoform epsilon [Homo sapiens].
ACCESSION   NP_001885
VERSION     NP_001885.1
DBSOURCE    REFSEQ: accession NM_001894.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 416)
  AUTHORS   Esaki N, Enomoto A, Takagishi M, Mizutani Y, Iida T, Ushida K,
            Shiraki Y, Mii S and Takahashi M.
  TITLE     The Daple-CK1epsilon complex regulates Dvl2 phosphorylation and
            canonical Wnt signaling
  JOURNAL   Biochem Biophys Res Commun 532 (3), 406-413 (2020)
   PUBMED   32888647
  REMARK    GeneRIF: The Daple-CK1epsilon complex regulates Dvl2
            phosphorylation and canonical Wnt signaling.
REFERENCE   2  (residues 1 to 416)
  AUTHORS   Bono B, Franco G, Riva V, Garbelli A and Maga G.
  TITLE     Novel Insights into the Biochemical Mechanism of CK1epsilon and its
            Functional Interplay with DDX3X
  JOURNAL   Int J Mol Sci 21 (17), 6449 (2020)
   PUBMED   32899434
  REMARK    GeneRIF: Novel Insights into the Biochemical Mechanism of
            CK1epsilon and its Functional Interplay with DDX3X.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 416)
  AUTHORS   Lu JW, Lin SH, Yeh CM, Yeh KT, Huang LR, Chen CY and Lin YM.
  TITLE     Cytoplasmic CK1epsilon Protein Expression Is Correlated With
            Distant Metastasis and Survival in Patients With Melanoma
  JOURNAL   In Vivo 34 (5), 2905-2911 (2020)
   PUBMED   32871831
  REMARK    GeneRIF: Cytoplasmic CK1epsilon Protein Expression Is Correlated
            With Distant Metastasis and Survival in Patients With Melanoma.
REFERENCE   4  (residues 1 to 416)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   5  (residues 1 to 416)
  AUTHORS   Guillen RX, Beckley JR, Chen JS and Gould KL.
  TITLE     CRISPR-mediated gene targeting of CK1delta/epsilon leads to
            enhanced understanding of their role in endocytosis via
            phosphoregulation of GAPVD1
  JOURNAL   Sci Rep 10 (1), 6797 (2020)
   PUBMED   32321936
  REMARK    GeneRIF: CRISPR-mediated gene targeting of CK1delta/epsilon leads
            to enhanced understanding of their role in endocytosis via
            phosphoregulation of GAPVD1.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 416)
  AUTHORS   Rivers A, Gietzen KF, Vielhaber E and Virshup DM.
  TITLE     Regulation of casein kinase I epsilon and casein kinase I delta by
            an in vivo futile phosphorylation cycle
  JOURNAL   J Biol Chem 273 (26), 15980-15984 (1998)
   PUBMED   9632646
REFERENCE   7  (residues 1 to 416)
  AUTHORS   Cegielska A, Gietzen KF, Rivers A and Virshup DM.
  TITLE     Autoinhibition of casein kinase I epsilon (CKI epsilon) is relieved
            by protein phosphatases and limited proteolysis
  JOURNAL   J Biol Chem 273 (3), 1357-1364 (1998)
   PUBMED   9430669
REFERENCE   8  (residues 1 to 416)
  AUTHORS   Knippschild U, Milne DM, Campbell LE, DeMaggio AJ, Christenson E,
            Hoekstra MF and Meek DW.
  TITLE     p53 is phosphorylated in vitro and in vivo by the delta and epsilon
            isoforms of casein kinase 1 and enhances the level of casein kinase
            1 delta in response to topoisomerase-directed drugs
  JOURNAL   Oncogene 15 (14), 1727-1736 (1997)
   PUBMED   9349507
REFERENCE   9  (residues 1 to 416)
  AUTHORS   Fish KJ, Cegielska A, Getman ME, Landes GM and Virshup DM.
  TITLE     Isolation and characterization of human casein kinase I epsilon
            (CKI), a novel member of the CKI gene family
  JOURNAL   J Biol Chem 270 (25), 14875-14883 (1995)
   PUBMED   7797465
REFERENCE   10 (residues 1 to 416)
  AUTHORS   Golsteyn RM, Mundt KE, Fry AM and Nigg EA.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB024597.1, BU517079.1 and
            BC013088.1.
            
            Summary: The protein encoded by this gene is a serine/threonine
            protein kinase and a member of the casein kinase I protein family,
            whose members have been implicated in the control of cytoplasmic
            and nuclear processes, including DNA replication and repair. The
            encoded protein is found in the cytoplasm as a monomer and can
            phosphorylate a variety of proteins, including itself. This protein
            has been shown to phosphorylate period, a circadian rhythm protein.
            Two transcript variants encoding the same protein have been found
            for this gene. [provided by RefSeq, Feb 2014].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB024597.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..416
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     Protein         1..416
                     /product="casein kinase I isoform epsilon"
                     /EC_number="2.7.11.1"
                     /calculated_mol_wt=47184
     Region          8..282
                     /region_name="STKc_CK1_delta_epsilon"
                     /note="Catalytic domain of the Serine/Threonine protein
                     kinases, Casein Kinase 1 delta and epsilon; cd14125"
                     /db_xref="CDD:271027"
     Site            order(15..21,23,36,38,82..86,88,90,128,130,132..133,135,
                     149,152,175..178)
                     /site_type="active"
                     /db_xref="CDD:271027"
     Site            order(15..21,23,36,38,82..86,130,132..133,135,149)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271027"
     Site            order(19,88,90,128,130,132,152,175..178)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271027"
     Site            order(148..158,160..178)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271027"
     Region          301..416
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P49674.1)"
     Site            343
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P49674.1)"
     Site            354
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P49674.1)"
     Site            362
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (P49674.1)"
     Site            363
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P49674.1)"
     Site            382
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9JMK2; propagated from
                     UniProtKB/Swiss-Prot (P49674.1)"
     Site            389
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49674.1)"
     Site            405
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49674.1)"
     Site            408
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49674.1)"
     CDS             1..416
                     /gene="CSNK1E"
                     /gene_synonym="CKIe; CKIepsilon; HCKIE"
                     /coded_by="NM_001894.5:112..1362"
                     /db_xref="GeneID:1454"
                     /db_xref="HGNC:HGNC:2453"
                     /db_xref="MIM:600863"
ORIGIN      
        1 melrvgnkyr lgrkigsgsf gdiylgania sgeevaikle cvktkhpqlh ieskfykmmq
       61 ggvgipsikw cgaegdynvm vmellgpsle dlfnfcsrkf slktvlllad qmisrieyih
      121 sknfihrdvk pdnflmglgk kgnlvyiidf glakkyrdar thqhipyren knltgtarya
      181 sinthlgieq srrddleslg yvlmyfnlgs lpwqglkaat krqkyerise kkmstpievl
      241 ckgypsefst ylnfcrslrf ddkpdysylr qlfrnlfhrq gfsydyvfdw nmlkfgaarn
      301 pedvdrerre hereermgql rgsatralpp gpptgatanr lrsaaepvas tpasriqpag
      361 ntspraisrv drerkvsmrl hrgapanvss sdltgrqevs ripasqtsvp fdhlgk
//
LOCUS       NP_001380376             121 aa            linear   PRI 31-DEC-2022
DEFINITION  anaphase-promoting complex subunit 15 isoform b [Homo sapiens].
ACCESSION   NP_001380376
VERSION     NP_001380376.1
DBSOURCE    REFSEQ: accession NM_001393447.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 121)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 121)
  AUTHORS   Li Q, Chang L, Aibara S, Yang J, Zhang Z and Barford D.
  TITLE     WD40 domain of Apc1 is critical for the coactivator-induced
            allosteric transition that stimulates APC/C catalytic activity
  JOURNAL   Proc Natl Acad Sci U S A 113 (38), 10547-10552 (2016)
   PUBMED   27601667
  REMARK    GeneRIF: cryo-EM structure of an APC/C-Cdh1 complex with Apc1(WD40)
            deleted showed that the mutant APC/C is locked into an inactive
            conformation in which the UbcH10-binding site of the catalytic
            module is inaccessible. Additionally, an EM density for Apc15 is
            not visible
REFERENCE   3  (residues 1 to 121)
  AUTHORS   Zhang S, Chang L, Alfieri C, Zhang Z, Yang J, Maslen S, Skehel M
            and Barford D.
  TITLE     Molecular mechanism of APC/C activation by mitotic phosphorylation
  JOURNAL   Nature 533 (7602), 260-264 (2016)
   PUBMED   27120157
REFERENCE   4  (residues 1 to 121)
  AUTHORS   Uzunova K, Dye BT, Schutz H, Ladurner R, Petzold G, Toyoda Y,
            Jarvis MA, Brown NG, Poser I, Novatchkova M, Mechtler K, Hyman AA,
            Stark H, Schulman BA and Peters JM.
  TITLE     APC15 mediates CDC20 autoubiquitylation by APC/C(MCC) and
            disassembly of the mitotic checkpoint complex
  JOURNAL   Nat Struct Mol Biol 19 (11), 1116-1123 (2012)
   PUBMED   23007861
  REMARK    GeneRIF: APC15 is required for anaphase-promoting
            complex/cyclosome-bound mitotic checkpoint complex-dependent CDC20
            autoubiquitylation and degradation and for timely anaphase
            initiation.
REFERENCE   5  (residues 1 to 121)
  AUTHORS   Mansfeld J, Collin P, Collins MO, Choudhary JS and Pines J.
  TITLE     APC15 drives the turnover of MCC-CDC20 to make the spindle assembly
            checkpoint responsive to kinetochore attachment
  JOURNAL   Nat Cell Biol 13 (10), 1234-1243 (2011)
   PUBMED   21926987
  REMARK    GeneRIF: Anaphase promoting complex subunit 15(APC15) mediates the
            constant turnover of CDC20 and mitotic checkpoint protein
            complexes, allowing the spindle checkpoint assembly to respond to
            the attachment state of kinetochores.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 121)
  AUTHORS   Castro A, Bernis C, Vigneron S, Labbe JC and Lorca T.
  TITLE     The anaphase-promoting complex: a key factor in the regulation of
            cell cycle
  JOURNAL   Oncogene 24 (3), 314-325 (2005)
   PUBMED   15678131
  REMARK    Review article
REFERENCE   7  (residues 1 to 121)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000812.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14243140.6624555.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..121
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..121
                     /product="anaphase-promoting complex subunit 15 isoform b"
                     /calculated_mol_wt=14150
     Region          2..>61
                     /region_name="ANAPC15"
                     /note="Anaphase-promoting complex subunit 15; pfam15243"
                     /db_xref="CDD:434565"
     Region          46..121
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P60006.1)"
     CDS             1..121
                     /gene="ANAPC15"
                     /gene_synonym="APC15; C11orf51; HSPC020"
                     /coded_by="NM_001393447.1:143..508"
                     /note="isoform b is encoded by transcript variant 33"
                     /db_xref="CCDS:CCDS8210.1"
                     /db_xref="GeneID:25906"
                     /db_xref="HGNC:HGNC:24531"
                     /db_xref="MIM:614717"
ORIGIN      
        1 mstlfpslfp rvtetlwfnl drpcveetel qqqeqqhqaw lqsiaekdnn lvpigkpase
       61 hyddeeeedd eddedseeds eddedmqdmd emndynespd dgevnevdme gneqdqdqwm
      121 i
//
LOCUS       NP_001381935             522 aa            linear   PRI 31-DEC-2022
DEFINITION  BTB/POZ domain-containing protein 3 isoform a [Homo sapiens].
ACCESSION   NP_001381935
VERSION     NP_001381935.1
DBSOURCE    REFSEQ: accession NM_001395006.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 522)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 522)
  AUTHORS   Wolber LE, Girotto G, Buniello A, Vuckovic D, Pirastu N,
            Lorente-Canovas B, Rudan I, Hayward C, Polasek O, Ciullo M, Mangino
            M, Steves C, Concas MP, Cocca M, Spector TD, Gasparini P, Steel KP
            and Williams FM.
  TITLE     Salt-inducible kinase 3, SIK3, is a new gene associated with
            hearing
  JOURNAL   Hum Mol Genet 23 (23), 6407-6418 (2014)
   PUBMED   25060954
REFERENCE   3  (residues 1 to 522)
  AUTHORS   Schonrock N, Humphreys DT, Preiss T and Gotz J.
  TITLE     Target gene repression mediated by miRNAs miR-181c and miR-9 both
            of which are down-regulated by amyloid-beta
  JOURNAL   J Mol Neurosci 46 (2), 324-335 (2012)
   PUBMED   21720722
  REMARK    GeneRIF: BTBD3 is repressed by miR-9 and -181c, either alone or in
            combination.
REFERENCE   4  (residues 1 to 522)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA
            and Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   5  (residues 1 to 522)
  AUTHORS   Parsa A, Chang YP, Kelly RJ, Corretti MC, Ryan KA, Robinson SW,
            Gottlieb SS, Kardia SL, Shuldiner AR and Liggett SB.
  TITLE     Hypertrophy-associated polymorphisms ascertained in a founder
            cohort applied to heart failure risk and mortality
  JOURNAL   Clin Transl Sci 4 (1), 17-23 (2011)
   PUBMED   21348951
REFERENCE   6  (residues 1 to 522)
  AUTHORS   Wu C, Xu B, Yuan P, Ott J, Guan Y, Liu Y, Liu Z, Shen Y, Yu D and
            Lin D.
  TITLE     Genome-wide examination of genetic variants associated with
            response to platinum-based chemotherapy in patients with small-cell
            lung cancer
  JOURNAL   Pharmacogenet Genomics 20 (6), 389-395 (2010)
   PUBMED   20463552
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (residues 1 to 522)
  AUTHORS   Nakayama M, Kikuno R and Ohara O.
  TITLE     Protein-protein interactions between large proteins: two-hybrid
            screening using a functionally classified library composed of long
            cDNAs
  JOURNAL   Genome Res 12 (11), 1773-1784 (2002)
   PUBMED   12421765
REFERENCE   8  (residues 1 to 522)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL035448.29.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2441366.1,
                                           SRR14372079.732014.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144335, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..522
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.2"
     Protein         1..522
                     /product="BTB/POZ domain-containing protein 3 isoform a"
                     /note="BTB/POZ domain-containing protein 3; BTB (POZ)
                     domain containing 3"
                     /calculated_mol_wt=58289
     Region          25..44
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2F9.1)"
     Region          99..229
                     /region_name="BTB_POZ_BTBD3"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in BTB/POZ
                     domain-containing protein 3 (BTBD3); cd18348"
                     /db_xref="CDD:349657"
     Region          220..314
                     /region_name="BACK_BTBD3"
                     /note="BACK (BTB and C-terminal Kelch) domain found in
                     BTB/POZ domain-containing protein 3 (BTBD3); cd18524"
                     /db_xref="CDD:350599"
     Region          376..521
                     /region_name="PHR"
                     /note="PHR domain; pfam08005"
                     /db_xref="CDD:429783"
     CDS             1..522
                     /gene="BTBD3"
                     /gene_synonym="dJ742J24.1"
                     /coded_by="NM_001395006.1:588..2156"
                     /note="isoform a is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS13113.1"
                     /db_xref="GeneID:22903"
                     /db_xref="HGNC:HGNC:15854"
                     /db_xref="MIM:615566"
ORIGIN      
        1 mvddkeknmk cltfflmlpe tvknrskkss kkantsssss nssklppvcy eiitlktkkk
       61 kmaadifprk kpanssstsv qqyhqqnlsn nnlipapnwq glyptirern ammfnndlma
      121 dvhfvvgppg gtqrlpghky vlavgssvfh amfygelaed kdeiripdve paaflamlky
      181 iycdeidlaa dtvlatlyaa kkyivphlar acvnfletsl saknacvlls qsclfeepdl
      241 tqrcwevida qaelalkseg fcdidfqtle silrretlna keivvfeaal nwaevecqrq
      301 dlalsienkr kvlgkalyli riptmalddf angaaqsgvl tlnetndifl wytaakkpel
      361 qfvskarkgl vpqrchrfqs cayrsnqwry rgrcdsiqfa vdkrvfiagf glygsscgsa
      421 eysakielkr qgvvlgqnls kyfsdgssnt fpvwfeypvq iepdtfytas vildgnelsy
      481 fgqegmtevq cgkvtvqfqc ssdstngtgv qggqipelif ya
//
LOCUS       NP_001380385             121 aa            linear   PRI 31-DEC-2022
DEFINITION  anaphase-promoting complex subunit 15 isoform b [Homo sapiens].
ACCESSION   NP_001380385
VERSION     NP_001380385.1
DBSOURCE    REFSEQ: accession NM_001393456.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 121)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 121)
  AUTHORS   Li Q, Chang L, Aibara S, Yang J, Zhang Z and Barford D.
  TITLE     WD40 domain of Apc1 is critical for the coactivator-induced
            allosteric transition that stimulates APC/C catalytic activity
  JOURNAL   Proc Natl Acad Sci U S A 113 (38), 10547-10552 (2016)
   PUBMED   27601667
  REMARK    GeneRIF: cryo-EM structure of an APC/C-Cdh1 complex with Apc1(WD40)
            deleted showed that the mutant APC/C is locked into an inactive
            conformation in which the UbcH10-binding site of the catalytic
            module is inaccessible. Additionally, an EM density for Apc15 is
            not visible
REFERENCE   3  (residues 1 to 121)
  AUTHORS   Zhang S, Chang L, Alfieri C, Zhang Z, Yang J, Maslen S, Skehel M
            and Barford D.
  TITLE     Molecular mechanism of APC/C activation by mitotic phosphorylation
  JOURNAL   Nature 533 (7602), 260-264 (2016)
   PUBMED   27120157
REFERENCE   4  (residues 1 to 121)
  AUTHORS   Uzunova K, Dye BT, Schutz H, Ladurner R, Petzold G, Toyoda Y,
            Jarvis MA, Brown NG, Poser I, Novatchkova M, Mechtler K, Hyman AA,
            Stark H, Schulman BA and Peters JM.
  TITLE     APC15 mediates CDC20 autoubiquitylation by APC/C(MCC) and
            disassembly of the mitotic checkpoint complex
  JOURNAL   Nat Struct Mol Biol 19 (11), 1116-1123 (2012)
   PUBMED   23007861
  REMARK    GeneRIF: APC15 is required for anaphase-promoting
            complex/cyclosome-bound mitotic checkpoint complex-dependent CDC20
            autoubiquitylation and degradation and for timely anaphase
            initiation.
REFERENCE   5  (residues 1 to 121)
  AUTHORS   Mansfeld J, Collin P, Collins MO, Choudhary JS and Pines J.
  TITLE     APC15 drives the turnover of MCC-CDC20 to make the spindle assembly
            checkpoint responsive to kinetochore attachment
  JOURNAL   Nat Cell Biol 13 (10), 1234-1243 (2011)
   PUBMED   21926987
  REMARK    GeneRIF: Anaphase promoting complex subunit 15(APC15) mediates the
            constant turnover of CDC20 and mitotic checkpoint protein
            complexes, allowing the spindle checkpoint assembly to respond to
            the attachment state of kinetochores.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 121)
  AUTHORS   Castro A, Bernis C, Vigneron S, Labbe JC and Lorca T.
  TITLE     The anaphase-promoting complex: a key factor in the regulation of
            cell cycle
  JOURNAL   Oncogene 24 (3), 314-325 (2005)
   PUBMED   15678131
  REMARK    Review article
REFERENCE   7  (residues 1 to 121)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000812.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14478891.2608762.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..121
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..121
                     /product="anaphase-promoting complex subunit 15 isoform b"
                     /calculated_mol_wt=14150
     Region          2..>61
                     /region_name="ANAPC15"
                     /note="Anaphase-promoting complex subunit 15; pfam15243"
                     /db_xref="CDD:434565"
     Region          46..121
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P60006.1)"
     CDS             1..121
                     /gene="ANAPC15"
                     /gene_synonym="APC15; C11orf51; HSPC020"
                     /coded_by="NM_001393456.1:116..481"
                     /note="isoform b is encoded by transcript variant 42"
                     /db_xref="CCDS:CCDS8210.1"
                     /db_xref="GeneID:25906"
                     /db_xref="HGNC:HGNC:24531"
                     /db_xref="MIM:614717"
ORIGIN      
        1 mstlfpslfp rvtetlwfnl drpcveetel qqqeqqhqaw lqsiaekdnn lvpigkpase
       61 hyddeeeedd eddedseeds eddedmqdmd emndynespd dgevnevdme gneqdqdqwm
      121 i
//
LOCUS       NP_001397991             698 aa            linear   PRI 01-JAN-2023
DEFINITION  metastasis-associated protein MTA1 isoform 4 [Homo sapiens].
ACCESSION   NP_001397991 XP_047287863
VERSION     NP_001397991.1
DBSOURCE    REFSEQ: accession NM_001411062.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 698)
  AUTHORS   Zemaitis K, Subramaniam A, Galeev R, Prosz A, Jassinskaja M,
            Hansson J and Larsson J.
  TITLE     RNAi Screen Identifies MTA1 as an Epigenetic Modifier of
            Differentiation Commitment in Human HSPCs
  JOURNAL   Exp Hematol 115, 20-29 (2022)
   PUBMED   36041657
  REMARK    GeneRIF: RNAi Screen Identifies MTA1 as an Epigenetic Modifier of
            Differentiation Commitment in Human HSPCs.
REFERENCE   2  (residues 1 to 698)
  AUTHORS   Sun FZ, Wang JS, Li CX, Wang T, Zhang JY, Zhou YT, Wang HJ and Qian
            HL.
  TITLE     [The role and mechanism of tumor metastasis-associated gene 1 in
            radiosensitivity of HeLa cells]
  JOURNAL   Zhonghua Zhong Liu Za Zhi 44 (9), 962-967 (2022)
   PUBMED   36164698
  REMARK    GeneRIF: [The role and mechanism of tumor metastasis-associated
            gene 1 in radiosensitivity of HeLa cells].
REFERENCE   3  (residues 1 to 698)
  AUTHORS   Vattem C and Pakala SB.
  TITLE     Metastasis-associated protein 1: A potential driver and regulator
            of the hallmarks of cancer
  JOURNAL   J Biosci 47 (2022)
   PUBMED   36210748
  REMARK    GeneRIF: Metastasis-associated protein 1: A potential driver and
            regulator of the hallmarks of cancer.
            Review article
REFERENCE   4  (residues 1 to 698)
  AUTHORS   Kumar R, Balasenthil S, Pakala SB, Rayala SK, Sahin AA and Ohshiro
            K.
  TITLE     Metastasis-associated protein 1 short form stimulates Wnt1 pathway
            in mammary epithelial and cancer cells
  JOURNAL   Cancer Res 70 (16), 6598-6608 (2010)
   PUBMED   20710043
REFERENCE   5  (residues 1 to 698)
  AUTHORS   Kumar R, Balasenthil S, Manavathi B, Rayala SK and Pakala SB.
  TITLE     Metastasis-associated protein 1 and its short form variant
            stimulates Wnt1 transcription through promoting its derepression
            from Six3 corepressor
  JOURNAL   Cancer Res 70 (16), 6649-6658 (2010)
   PUBMED   20682799
REFERENCE   6  (residues 1 to 698)
  AUTHORS   Singh RR, Kaluarachchi K, Chen M, Rayala SK, Balasenthil S, Ma J
            and Kumar R.
  TITLE     Solution structure and antiestrogenic activity of the unique
            C-terminal, NR-box motif-containing region of MTA1s
  JOURNAL   J Biol Chem 281 (35), 25612-25621 (2006)
   PUBMED   16807247
  REMARK    GeneRIF: structure and antiestrogenic activity of the unique
            C-terminal, NR-box motif-containing region of MTA1
            Erratum:[J Biol Chem. 2013 Sep 20;288(38):27518]
REFERENCE   7  (residues 1 to 698)
  AUTHORS   Mishra SK, Yang Z, Mazumdar A, Talukder AH, Larose L and Kumar R.
  TITLE     Metastatic tumor antigen 1 short form (MTA1s) associates with
            casein kinase I-gamma2, an estrogen-responsive kinase
  JOURNAL   Oncogene 23 (25), 4422-4429 (2004)
   PUBMED   15077195
  REMARK    GeneRIF: MTA1s interacts with CKI-gamma2 in vitro and in vivo and
            colocalizes in the cytoplasm
REFERENCE   8  (residues 1 to 698)
  AUTHORS   Kumar R, Wang RA, Mazumdar A, Talukder AH, Mandal M, Yang Z,
            Bagheri-Yarmand R, Sahin A, Hortobagyi G, Adam L, Barnes CJ and
            Vadlamudi RK.
  TITLE     A naturally occurring MTA1 variant sequesters oestrogen
            receptor-alpha in the cytoplasm
  JOURNAL   Nature 418 (6898), 654-657 (2002)
   PUBMED   12167865
  REMARK    GeneRIF: naturally occurring short form that contains a previously
            unknown sequence of 33 amino acids with an ER-binding motif,
            Leu-Arg-Ile-Leu-Leu (LRILL); MTA1s localizes in the cytoplasm,
            sequesters ER in the cytoplasm, and enhances non-genomic responses
            of ER
REFERENCE   9  (residues 1 to 698)
  AUTHORS   Toh Y, Pencil SD and Nicolson GL.
  TITLE     Analysis of the complete sequence of the novel
            metastasis-associated candidate gene, mta1, differentially
            expressed in mammary adenocarcinoma and breast cancer cell lines
  JOURNAL   Gene 159 (1), 97-104 (1995)
   PUBMED   7607577
REFERENCE   10 (residues 1 to 698)
  AUTHORS   Toh Y, Pencil SD and Nicolson GL.
  TITLE     A novel candidate metastasis-associated gene, mta1, differentially
            expressed in highly metastatic mammary adenocarcinoma cell lines.
            cDNA cloning, expression, and protein analyses
  JOURNAL   J Biol Chem 269 (37), 22958-22963 (1994)
   PUBMED   8083195
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL928654.1.
            On Aug 20, 2022 this sequence version replaced XP_047287863.1.
            
            Summary: This gene encodes a protein that was identified in a
            screen for genes expressed in metastatic cells, specifically,
            mammary adenocarcinoma cell lines. Expression of this gene has been
            correlated with the metastatic potential of at least two types of
            carcinomas although it is also expressed in many normal tissues.
            The role it plays in metastasis is unclear. It was initially
            thought to be the 70kD component of a nucleosome remodeling
            deacetylase complex, NuRD, but it is more likely that this
            component is a different but very similar protein. These two
            proteins are so closely related, though, that they share the same
            types of domains. These domains include two DNA binding domains, a
            dimerization domain, and a domain commonly found in proteins that
            methylate DNA. The profile and activity of this gene product
            suggest that it is involved in regulating transcription and that
            this may be accomplished by chromatin remodeling. Two transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Feb 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.2056600.1,
                                           SRR14038196.1043885.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..698
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.33"
     Protein         1..698
                     /product="metastasis-associated protein MTA1 isoform 4"
                     /note="metastasis associated gene 1 protein"
                     /calculated_mol_wt=79062
     Region          3..171
                     /region_name="BAH_MTA"
                     /note="BAH, or Bromo Adjacent Homology domain, as present
                     in MTA1 and similar proteins. The Metastasis-associated
                     protein MTA1 is part of the NURD (nucleosome remodeling
                     and deacetylating) complex and plays a role in cellular
                     transformation and metastasis. BAH...; cd04709"
                     /db_xref="CDD:240060"
     Region          150..202
                     /region_name="ELM2"
                     /note="ELM2 domain; pfam01448"
                     /db_xref="CDD:426267"
     Region          270..315
                     /region_name="SANT_MTA3_like"
                     /note="Myb-Like Dna-Binding Domain of MTA3 and related
                     proteins; cd11661"
                     /db_xref="CDD:212559"
     Site            order(271,301..302,304..305,307..309,311..313)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:212559"
     Region          371..424
                     /region_name="ZnF_GATA"
                     /note="zinc finger binding to DNA consensus sequence
                     [AT]GATA[AG]; smart00401"
                     /db_xref="CDD:214648"
     Region          447..524
                     /region_name="MTA_R1"
                     /note="MTA R1 domain; pfam17226"
                     /db_xref="CDD:435796"
     CDS             1..698
                     /gene="MTA1"
                     /coded_by="NM_001411062.1:210..2306"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS91957.1"
                     /db_xref="GeneID:9112"
                     /db_xref="HGNC:HGNC:7410"
                     /db_xref="MIM:603526"
ORIGIN      
        1 maanmyrvgd yvyfensssn pylirrieel nktangnvea kvvcfyrrrd isstlialad
       61 khareieeem enpemvdlpe klkhqlrhre lflsrqlesl pathirgkcs vtllnetesl
      121 ksyleredff fyslvydpqq ktlladkgei rvgnryqadi tdllkegeed grdqsrletq
      181 vweahnpltd kqidqflvva rsvgtfaral dcsssvrqps lhmsaaaasr ditlfhamdt
      241 lhkniydisk aisalvpqgg pvlcrdemee wsaseanlfe ealekygkdf tdiqqdflpw
      301 ksltsiieyy ymwkttdryv qqkrlkaaea esklkqvyip nynkpnpnqi svnnvkagvv
      361 ngtgapgqsp gagracescy ttqsyqwysw gppnmqcrlc ascwtywkky gglkmptrld
      421 gerpgpnrsn msphglpars sgspkfamkt rqafylhttk ltriarrlcr eilrpwhaar
      481 hpylpinsaa ikaectarlp easqsplvlk qavrkpleav lrylethprp pkpdpvksvs
      541 svlssltpak vapvinngsp tilgkrsyeq hngvdgnmkk rllmpsrgla nhgqarhmgp
      601 srnlllngks yptkvrlirg gslppvkrrr mnwidapddv fymateetrk irkllssset
      661 kraarrpykp ialrqsqalp prppppapvn depivied
//
LOCUS       NP_001308195             387 aa            linear   PRI 23-JAN-2023
DEFINITION  lysophospholipid acyltransferase 2 isoform 3 [Homo sapiens].
ACCESSION   NP_001308195 XP_011508612
VERSION     NP_001308195.1
DBSOURCE    REFSEQ: accession NM_001321266.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 387)
  AUTHORS   Yu X, Tong H, Chen J, Tang C, Wang S, Si Y, Wang S and Tang Z.
  TITLE     CircRNA MBOAT2 promotes intrahepatic cholangiocarcinoma progression
            and lipid metabolism reprogramming by stabilizing PTBP1 to
            facilitate FASN mRNA cytoplasmic export
  JOURNAL   Cell Death Dis 14 (1), 20 (2023)
   PUBMED   36635270
  REMARK    GeneRIF: CircRNA MBOAT2 promotes intrahepatic cholangiocarcinoma
            progression and lipid metabolism reprogramming by stabilizing PTBP1
            to facilitate FASN mRNA cytoplasmic export.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 387)
  AUTHORS   Zhou X, Liu K, Cui J, Xiong J, Wu H, Peng T and Guo Y.
  TITLE     Circ-MBOAT2 knockdown represses tumor progression and glutamine
            catabolism by miR-433-3p/GOT1 axis in pancreatic cancer
  JOURNAL   J Exp Clin Cancer Res 40 (1), 124 (2021)
   PUBMED   33832516
  REMARK    GeneRIF: Circ-MBOAT2 knockdown represses tumor progression and
            glutamine catabolism by miR-433-3p/GOT1 axis in pancreatic cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 387)
  AUTHORS   Gijon MA, Riekhof WR, Zarini S, Murphy RC and Voelker DR.
  TITLE     Lysophospholipid acyltransferases and arachidonate recycling in
            human neutrophils
  JOURNAL   J Biol Chem 283 (44), 30235-30245 (2008)
   PUBMED   18772128
REFERENCE   4  (residues 1 to 387)
  AUTHORS   Tamaki H, Shimada A, Ito Y, Ohya M, Takase J, Miyashita M, Miyagawa
            H, Nozaki H, Nakayama R and Kumagai H.
  TITLE     LPT1 encodes a membrane-bound O-acyltransferase involved in the
            acylation of lysophospholipids in the yeast Saccharomyces
            cerevisiae
  JOURNAL   J Biol Chem 282 (47), 34288-34298 (2007)
   PUBMED   17890783
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC112723.3 and AC012495.9.
            On Mar 19, 2016 this sequence version replaced XP_011508612.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.95137.1,
                                           SRR1803617.51815.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..387
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.1"
     Protein         1..387
                     /product="lysophospholipid acyltransferase 2 isoform 3"
                     /EC_number="2.3.1.51"
                     /EC_number="2.3.1.23"
                     /EC_number="2.3.1.n7"
                     /note="O-acyltransferase (membrane bound) domain
                     containing 2; lysophospholipid acyltransferase 2; lyso-PA
                     acyltransferase; lyso-PE acyltransferase; lysophosphatidic
                     acid acyltransferase; 1-acylglycerophosphate
                     O-acyltransferase; lysophosphatidylethanolamine
                     acyltransferase; 1-acylglycerophosphoethanolamine
                     O-acyltransferase; membrane-bound O-acyltransferase
                     domain-containing protein 2; lyso-PC acyltransferase;
                     lyso-PC acyltransferase 4; lysophospholipid
                     acyltransferase 13; lysophosphatidylcholine
                     acyltransferase; lysophosphatidylcholine acyltransferase
                     4; 1-acylglycerophosphate O-acyltransferase MBOAT2;
                     1-acylglycerophosphocholine O-acyltransferase MBOAT2;
                     1-acylglycerophosphoethanolamine MBOAT2 O-acyltransferase"
                     /calculated_mol_wt=44494
     Region          <1..317
                     /region_name="MBOAT"
                     /note="membrane-bound O-acyltransferase family; cl00738"
                     /db_xref="CDD:445070"
     CDS             1..387
                     /gene="MBOAT2"
                     /gene_synonym="LPAAT; LPCAT; LPCAT4; LPEAT; LPLAT 2;
                     LPLAT13; OACT2"
                     /coded_by="NM_001321266.2:246..1409"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="GeneID:129642"
                     /db_xref="HGNC:HGNC:25193"
                     /db_xref="MIM:611949"
ORIGIN      
        1 mmiitqkits laceihdgmf rkdeeltssq rdlavrrmps lleylsyncn fmgilagplc
       61 sykdyitfie grsyhitqsg engkeetqye rtepspntav vqkllvcgls llfhltictt
      121 lpveynideh fqataswptk iiylyislla arpkyyfawt ladainnaag fgfrgydeng
      181 aarwdlisnl riqqiemsts fkmfldnwni qtalwlkrvc yertsfspti qtfilsaiwh
      241 gvypgyyltf ltgvlmtlaa ramrnnfrhy fiepsqlklf ydvitwivtq vaisytvvpf
      301 vllsikpslt fysswyyclh ilgilvllll pvkktqrrkn theniqlsqs kkfdegensl
      361 gqnsfsttnn vcnqnqeias rhsslkq
//
LOCUS       NP_001340239             324 aa            linear   PRI 23-JAN-2023
DEFINITION  CYFIP-related Rac1 interactor B isoform 3 [Homo sapiens].
ACCESSION   NP_001340239 XP_016869044
VERSION     NP_001340239.1
DBSOURCE    REFSEQ: accession NM_001353310.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 324)
  AUTHORS   Xi Y, Zhang T, Sun W, Liang R, Ganesh S and Chen H.
  TITLE     GOLM1 and FAM49B: Potential Biomarkers in HNSCC Based on
            Bioinformatics and Immunohistochemical Analysis
  JOURNAL   Int J Mol Sci 23 (23), 15433 (2022)
   PUBMED   36499755
  REMARK    GeneRIF: GOLM1 and FAM49B: Potential Biomarkers in HNSCC Based on
            Bioinformatics and Immunohistochemical Analysis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 324)
  AUTHORS   Yelland T, Le AH, Nikolaou S, Insall R, Machesky L and Ismail S.
  TITLE     Structural Basis of CYRI-B Direct Competition with Scar/WAVE
            Complex for Rac1
  JOURNAL   Structure 29 (3), 226-237 (2021)
   PUBMED   33217330
  REMARK    GeneRIF: Structural Basis of CYRI-B Direct Competition with
            Scar/WAVE Complex for Rac1.
REFERENCE   3  (residues 1 to 324)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 324)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 324)
  AUTHORS   Zhang Y, Du P, Li Y, Zhu Q, Song X, Liu S, Hao J, Liu L, Liu F, Hu
            Y, Jiang L, Ma Q, Lu W and Liu Y.
  TITLE     TASP1 Promotes Gallbladder Cancer Cell Proliferation and Metastasis
            by Up-regulating FAM49B via PI3K/AKT Pathway
  JOURNAL   Int J Biol Sci 16 (5), 739-751 (2020)
   PUBMED   32071545
  REMARK    GeneRIF: TASP1 Promotes Gallbladder Cancer Cell Proliferation and
            Metastasis by Up-regulating FAM49B via PI3K/AKT Pathway.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 324)
  AUTHORS   Nalls MA, Couper DJ, Tanaka T, van Rooij FJ, Chen MH, Smith AV,
            Toniolo D, Zakai NA, Yang Q, Greinacher A, Wood AR, Garcia M,
            Gasparini P, Liu Y, Lumley T, Folsom AR, Reiner AP, Gieger C, Lagou
            V, Felix JF, Volzke H, Gouskova NA, Biffi A, Doring A, Volker U,
            Chong S, Wiggins KL, Rendon A, Dehghan A, Moore M, Taylor K, Wilson
            JG, Lettre G, Hofman A, Bis JC, Pirastu N, Fox CS, Meisinger C,
            Sambrook J, Arepalli S, Nauck M, Prokisch H, Stephens J, Glazer NL,
            Cupples LA, Okada Y, Takahashi A, Kamatani Y, Matsuda K, Tsunoda T,
            Tanaka T, Kubo M, Nakamura Y, Yamamoto K, Kamatani N, Stumvoll M,
            Tonjes A, Prokopenko I, Illig T, Patel KV, Garner SF, Kuhnel B,
            Mangino M, Oostra BA, Thein SL, Coresh J, Wichmann HE, Menzel S,
            Lin J, Pistis G, Uitterlinden AG, Spector TD, Teumer A,
            Eiriksdottir G, Gudnason V, Bandinelli S, Frayling TM, Chakravarti
            A, van Duijn CM, Melzer D, Ouwehand WH, Levy D, Boerwinkle E,
            Singleton AB, Hernandez DG, Longo DL, Soranzo N, Witteman JC, Psaty
            BM, Ferrucci L, Harris TB, O'Donnell CJ and Ganesh SK.
  TITLE     Multiple loci are associated with white blood cell phenotypes
  JOURNAL   PLoS Genet 7 (6), e1002113 (2011)
   PUBMED   21738480
REFERENCE   7  (residues 1 to 324)
  AUTHORS   Buschow SI, van Balkom BW, Aalberts M, Heck AJ, Wauben M and
            Stoorvogel W.
  TITLE     MHC class II-associated proteins in B-cell exosomes and potential
            functional implications for exosome biogenesis
  JOURNAL   Immunol Cell Biol 88 (8), 851-856 (2010)
   PUBMED   20458337
REFERENCE   8  (residues 1 to 324)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   9  (residues 1 to 324)
  AUTHORS   Melzer D, Perry JR, Hernandez D, Corsi AM, Stevens K, Rafferty I,
            Lauretani F, Murray A, Gibbs JR, Paolisso G, Rafiq S, Simon-Sanchez
            J, Lango H, Scholz S, Weedon MN, Arepalli S, Rice N, Washecka N,
            Hurst A, Britton A, Henley W, van de Leemput J, Li R, Newman AB,
            Tranah G, Harris T, Panicker V, Dayan C, Bennett A, McCarthy MI,
            Ruokonen A, Jarvelin MR, Guralnik J, Bandinelli S, Frayling TM,
            Singleton A and Ferrucci L.
  TITLE     A genome-wide association study identifies protein quantitative
            trait loci (pQTLs)
  JOURNAL   PLoS Genet 4 (5), e1000072 (2008)
   PUBMED   18464913
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 324)
  AUTHORS   Petroziello J, Yamane A, Westendorf L, Thompson M, McDonagh C,
            Cerveny C, Law CL, Wahl A and Carter P.
  TITLE     Suppression subtractive hybridization and expression profiling
            identifies a unique set of genes overexpressed in non-small-cell
            lung cancer
  JOURNAL   Oncogene 23 (46), 7734-7745 (2004)
   PUBMED   15334068
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131568.5 and AC022973.5.
            On Jul 2, 2017 this sequence version replaced XP_016869044.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.81932.1,
                                           SRR1660809.212935.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..324
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.21"
     Protein         1..324
                     /product="CYFIP-related Rac1 interactor B isoform 3"
                     /note="protein FAM49B; FAM49B/JPH1 fusion; MTSS1/FAM49B
                     fusion; family with sequence similarity 49 member B"
                     /calculated_mol_wt=36689
     Region          19..320
                     /region_name="DUF1394"
                     /note="Protein of unknown function (DUF1394); pfam07159"
                     /db_xref="CDD:429323"
     CDS             1..324
                     /gene="CYRIB"
                     /gene_synonym="BM-009; CYRI; CYRI-B; FAM49B; L1"
                     /coded_by="NM_001353310.2:328..1302"
                     /note="isoform 3 is encoded by transcript variant 72"
                     /db_xref="CCDS:CCDS94340.1"
                     /db_xref="GeneID:51571"
                     /db_xref="HGNC:HGNC:25216"
                     /db_xref="MIM:617978"
ORIGIN      
        1 mgnlikvltr didhnaahff ldfenaqpte sekeiynqvn vvlkdaegil edlqsyrgag
       61 heireaiqhp adeklqekaw gavvplvgkl kkfyefsqrl eaalrgllga ltstpysptq
      121 hlereqalak qfaeilhftl rfdelkmtnp aiqndfsyyr rtlsrmrinn vpaegenevn
      181 nelanrmslf yaeatpmlkt lsdattkfvs enknlpient tdclstmasv crvmletpey
      241 rsrftneetv sfclrvmvgv iilydhvhpv gafaktskid mkgcikvlkd qppnsvegll
      301 nalryttkhl ndettskqik smlq
//
LOCUS       NP_001358142             446 aa            linear   PRI 19-FEB-2023
DEFINITION  zinc finger protein 3 isoform 2 [Homo sapiens].
ACCESSION   NP_001358142
VERSION     NP_001358142.1
DBSOURCE    REFSEQ: accession NM_001371213.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 446)
  AUTHORS   Du L, Liu N, Jin J, Cao M, Sun Y, Gao X, Ruan B, Yang S, Ge D, Ye
            Y, Zhou Y, Chen E and Yang J.
  TITLE     ZNF3 regulates proliferation, migration and invasion through MMP1
            and TWIST in colorectal cancer
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 54 (12), 1889-1896 (2022)
   PUBMED   36789689
  REMARK    GeneRIF: ZNF3 regulates proliferation, migration and invasion
            through MMP1 and TWIST in colorectal cancer.
REFERENCE   2  (residues 1 to 446)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 446)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   4  (residues 1 to 446)
  AUTHORS   Gao J, Li WX, Feng SQ, Yuan YS, Wan DF, Han W and Yu Y.
  TITLE     A protein-protein interaction network of transcription factors
            acting during liver cell proliferation
  JOURNAL   Genomics 91 (4), 347-355 (2008)
   PUBMED   18255255
REFERENCE   5  (residues 1 to 446)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   6  (residues 1 to 446)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   7  (residues 1 to 446)
  AUTHORS   Rosati M, Marino M, Franze A, Tramontano A and Grimaldi G.
  TITLE     Members of the zinc finger protein gene family sharing a conserved
            N-terminal module
  JOURNAL   Nucleic Acids Res 19 (20), 5661-5667 (1991)
   PUBMED   1945843
REFERENCE   8  (residues 1 to 446)
  AUTHORS   Thiesen HJ.
  TITLE     Multiple genes encoding zinc finger domains are expressed in human
            T cells
  JOURNAL   New Biol 2 (4), 363-374 (1990)
   PUBMED   2288909
REFERENCE   9  (residues 1 to 446)
  AUTHORS   Pannuti A, Lanfrancone L, Pascucci A, Pelicci PG, La Mantia G and
            Lania L.
  TITLE     Isolation of cDNAs encoding finger proteins and measurement of the
            corresponding mRNA levels during myeloid terminal differentiation
  JOURNAL   Nucleic Acids Res 16 (10), 4227-4237 (1988)
   PUBMED   3380682
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073842.5 and AC093619.5.
            
            Transcript Variant: This variant (17), as well as variants 2-5, 8,
            15, 16, and 18, encodes isoform 2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.3235883.1,
                                           SRR14038192.712128.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..446
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     Protein         1..446
                     /product="zinc finger protein 3 isoform 2"
                     /note="C2-H2 type zinc finger protein; zinc finger protein
                     HF.12; zinc finger protein KOX25; zinc finger protein
                     HZF3.1"
                     /calculated_mol_wt=50785
     Region          50..91
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Site            143
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (P17036.3)"
     Region          <175..353
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          178..194
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          202..222
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(207,209,211,213..214,217..218,221,235,237,241..242,
                     245..246,249,263,265,267,269..270,273..274,277)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          230..250
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          258..278
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          286..306
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(291,293,295,297..298,301..302,305,319,321,325..326,
                     329..330,333,347,349,351,353..354,357..358,361)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          314..334
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          342..362
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          354..379
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          370..390
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          383..407
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          398..418
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            419
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P17036.3)"
     CDS             1..446
                     /gene="ZNF3"
                     /gene_synonym="A8-51; HF.12; KOX25; PP838; Zfp113"
                     /coded_by="NM_001371213.1:371..1711"
                     /note="isoform 2 is encoded by transcript variant 17"
                     /db_xref="CCDS:CCDS43619.1"
                     /db_xref="GeneID:7551"
                     /db_xref="HGNC:HGNC:13089"
                     /db_xref="MIM:194510"
ORIGIN      
        1 metqadlvsq epqalldsal pskvpafsdk dslgdemlaa allkaksqel vtfedvavyf
       61 irkewkrlep aqrdlyrdvm lenygnvfsl dretrtendq eisedtrshg vllgrfqkdi
      121 sqglkfkeay erevslkrpl gnspgerlnr kmpdfgqvtv eekltprger sekyndfgns
      181 ftvnsnlish qrlpvgdrph kcdecsksfn rtsdliqhqr ihtgekpyec necgkafsqs
      241 shliqhqrih tgekpyecsd cgktfscssa lilhrrihtg ekpyecnecg ktfswsstlt
      301 hhqrihtgek pyacnecgka fsrsstlihh qrihtgekpy ecnecgkafs qsshlyqhqr
      361 ihtgekpyec mecggkftys sgliqhqrih tgenpyecse cgkafryssa lvrhqrihtg
      421 ekplngigms ksslrvttel nirest
//
LOCUS       NP_001356638             559 aa            linear   PRI 14-MAR-2023
DEFINITION  zinc finger Y-chromosomal protein isoform 6 [Homo sapiens].
ACCESSION   NP_001356638
VERSION     NP_001356638.1
DBSOURCE    REFSEQ: accession NM_001369709.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 559)
  AUTHORS   Ni W, Perez AA, Schreiner S, Nicolet CM and Farnham PJ.
  TITLE     Characterization of the ZFX family of transcription factors that
            bind downstream of the start site of CpG island promoters
  JOURNAL   Nucleic Acids Res 48 (11), 5986-6000 (2020)
   PUBMED   32406922
  REMARK    GeneRIF: Characterization of the ZFX family of transcription
            factors that bind downstream of the start site of CpG island
            promoters.
REFERENCE   2  (residues 1 to 559)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 559)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   4  (residues 1 to 559)
  AUTHORS   Decarpentrie F, Vernet N, Mahadevaiah SK, Longepied G,
            Streichemberger E, Aknin-Seifer I, Ojarikre OA, Burgoyne PS,
            Metzler-Guillemain C and Mitchell MJ.
  TITLE     Human and mouse ZFY genes produce a conserved testis-specific
            transcript encoding a zinc finger protein with a short acidic
            domain and modified transactivation potential
  JOURNAL   Hum Mol Genet 21 (12), 2631-2645 (2012)
   PUBMED   22407129
  REMARK    GeneRIF: Studies identified a major testis-specific ZFY transcript
            that encodes a protein with the same short acidic domain.
REFERENCE   5  (residues 1 to 559)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   6  (residues 1 to 559)
  AUTHORS   Tricoli JV and Bracken RB.
  TITLE     ZFY gene expression and retention in human prostate adenocarcinoma
  JOURNAL   Genes Chromosomes Cancer 6 (2), 65-72 (1993)
   PUBMED   7680890
REFERENCE   7  (residues 1 to 559)
  AUTHORS   Kochoyan M, Keutmann HT and Weiss MA.
  TITLE     Alternating zinc fingers in the human male associated protein ZFY:
            refinement of the NMR structure of an even finger by selective
            deuterium labeling and implications for DNA recognition
  JOURNAL   Biochemistry 30 (29), 7063-7072 (1991)
   PUBMED   1854720
REFERENCE   8  (residues 1 to 559)
  AUTHORS   North M, Sargent C, O'Brien J, Taylor K, Wolfe J, Affara NA and
            Ferguson-Smith MA.
  TITLE     Comparison of ZFY and ZFX gene structure and analysis of
            alternative 3' untranslated regions of ZFY
  JOURNAL   Nucleic Acids Res 19 (10), 2579-2586 (1991)
   PUBMED   2041734
REFERENCE   9  (residues 1 to 559)
  AUTHORS   Kochoyan M, Havel TF, Nguyen DT, Dahl CE, Keutmann HT and Weiss MA.
  TITLE     Alternating zinc fingers in the human male associated protein ZFY:
            2D NMR structure of an even finger and implications for
            'jumping-linker' DNA recognition
  JOURNAL   Biochemistry 30 (14), 3371-3386 (1991)
   PUBMED   1849423
REFERENCE   10 (residues 1 to 559)
  AUTHORS   Palmer MS, Berta P, Sinclair AH, Pym B and Goodfellow PN.
  TITLE     Comparison of human ZFY and ZFX transcripts
  JOURNAL   Proc Natl Acad Sci U S A 87 (5), 1681-1685 (1990)
   PUBMED   2308929
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006157.2.
            
            Summary: This gene encodes a zinc finger-containing protein that
            may function as a transcription factor. This gene was once a
            candidate gene for the testis-determining factor (TDF) and was
            erroneously referred to as TDF. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.225725.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665, SAMEA2467143
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..559
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yp11.2"
     Protein         1..559
                     /product="zinc finger Y-chromosomal protein isoform 6"
                     /note="zinc finger Y-chromosomal protein"
                     /calculated_mol_wt=64359
     Region          <22..164
                     /region_name="Zfx_Zfy_act"
                     /note="Zfx / Zfy transcription activation region;
                     pfam04704"
                     /db_xref="CDD:428075"
     Region          <181..>203
                     /region_name="ROS_MUCR"
                     /note="ROS/MUCR transcriptional regulator protein;
                     cl19880"
                     /db_xref="CDD:450395"
     Region          181..201
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(181,184,197,201)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          212..236
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          244..264
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(244,247,260,264)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(249,251,253,255..256,259..260,263,309,311,315..316,
                     319..320,323,337,339,341,343..344,347..348,351)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          297..>434
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          304..324
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          316..340
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          332..351
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          361..410
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          418..438
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          475..495
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(475,478,491,495)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(480,482,484,486..487,490..491,494,508,510,514..515,
                     518..519,523,537,539,541,543..544,547..548,551)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          487..511
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          503..524
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          532..552
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..559
                     /gene="ZFY"
                     /gene_synonym="ZNF911"
                     /coded_by="NM_001369709.1:95..1774"
                     /note="isoform 6 is encoded by transcript variant 11"
                     /db_xref="GeneID:7544"
                     /db_xref="HGNC:HGNC:12870"
                     /db_xref="MIM:490000"
ORIGIN      
        1 mdedefelqp qepnsffdgi vddagkiehd gstgvtidae semdpckvds tcpevikvyi
       61 fkadpgeddl ggtvdivese pendhgvell dqnssirvpr ekmvymtvnd sqqededlsn
      121 nsdgienrng tasallhide saglgrlakq kpkkkrrpds rqyqtaiiig pdghpltvyp
      181 cmicgkkfks rgflkrhmkn hpehlakkky hctdcdyttn kkislhnhle shkltskaek
      241 aiecdecgkh fshagalfth kmvhkekgan kmhkckfcey etaeqgllnr hllavhsknf
      301 phicvecgkg frhpselrkh mrihtgekpy qcqyceyrsa dssnlkthik tkhskempfk
      361 cdiclltfsd tkevqqhtlv hqeskthqcl hcdhkssnss dlkrhvisvh tkdyphkcem
      421 cekgfhrpse lkkhvavhkg kkmhqcrhcd fkiadpfvls rhilsvhtkd lpfrckrcrk
      481 gfrqqnelkk hmkthsgrkv yqceyceyst tdasgfkrhv isihtkdyph rceyckkgfr
      541 rpseknqhim rhhkevglp
//
LOCUS       NP_008945                870 aa            linear   PRI 16-MAR-2023
DEFINITION  NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform WWP2-FL [Homo
            sapiens].
ACCESSION   NP_008945
VERSION     NP_008945.2
DBSOURCE    REFSEQ: accession NM_007014.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 870)
  AUTHORS   Zhang Z, Lu YX, Liu F, Sang L, Shi C, Xie S, Bian W, Yang JC, Yang
            Z, Qu L, Chen SY, Li J, Yang L, Yan Q, Wang W, Fu P, Shao J, Li X
            and Lin A.
  TITLE     lncRNA BREA2 promotes metastasis by disrupting the WWP2-mediated
            ubiquitination of Notch1
  JOURNAL   Proc Natl Acad Sci U S A 120 (8), e2206694120 (2023)
   PUBMED   36795754
  REMARK    GeneRIF: lncRNA BREA2 promotes metastasis by disrupting the
            WWP2-mediated ubiquitination of Notch1.
REFERENCE   2  (residues 1 to 870)
  AUTHORS   Zou J, Zhou L, Le Y, Fang Z, Zhong M, Nie F, Wei X, Zhang X, Chen
            Z, Cai L, Wang H, Xiong J, Fang Z and Xiang X.
  TITLE     WWP2 drives the progression of gastric cancer by facilitating the
            ubiquitination and degradation of LATS1 protein
  JOURNAL   Cell Commun Signal 21 (1), 38 (2023)
   PUBMED   36803368
  REMARK    GeneRIF: WWP2 drives the progression of gastric cancer by
            facilitating the ubiquitination and degradation of LATS1 protein.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 870)
  AUTHORS   Chen H, Chew G, Devapragash N, Loh JZ, Huang KY, Guo J, Liu S, Tan
            ELS, Chen S, Tee NGZ, Mia MM, Singh MK, Zhang A, Behmoaras J and
            Petretto E.
  TITLE     The E3 ubiquitin ligase WWP2 regulates pro-fibrogenic monocyte
            infiltration and activity in heart fibrosis
  JOURNAL   Nat Commun 13 (1), 7375 (2022)
   PUBMED   36450710
  REMARK    GeneRIF: The E3 ubiquitin ligase WWP2 regulates pro-fibrogenic
            monocyte infiltration and activity in heart fibrosis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 870)
  AUTHORS   Chantry A.
  TITLE     WWP2 ubiquitin ligase and its isoforms: new biological insight and
            promising disease targets
  JOURNAL   Cell Cycle 10 (15), 2437-2439 (2011)
   PUBMED   21750408
REFERENCE   5  (residues 1 to 870)
  AUTHORS   Soond SM and Chantry A.
  TITLE     Selective targeting of activating and inhibitory Smads by distinct
            WWP2 ubiquitin ligase isoforms differentially modulates TGFbeta
            signalling and EMT
  JOURNAL   Oncogene 30 (21), 2451-2462 (2011)
   PUBMED   21258410
  REMARK    GeneRIF: Data show that the WWP2-N isoform interacts with Smad2 and
            Smad3, whereas WWP2-C interacts only with Smad7.
REFERENCE   6  (residues 1 to 870)
  AUTHORS   McDonald FJ, Western AH, McNeil JD, Thomas BC, Olson DR and Snyder
            PM.
  TITLE     Ubiquitin-protein ligase WWP2 binds to and downregulates the
            epithelial Na(+) channel
  JOURNAL   Am J Physiol Renal Physiol 283 (3), F431-F436 (2002)
   PUBMED   12167593
  REMARK    GeneRIF: expression, binding, and functional data all suggest that
            WWP2 is a candidate to regulate ENaC-mediated Na(+) transport in
            epithelia
REFERENCE   7  (residues 1 to 870)
  AUTHORS   Harvey KF, Shearwin-Whyatt LM, Fotia A, Parton RG and Kumar S.
  TITLE     N4WBP5, a potential target for ubiquitination by the Nedd4 family
            of proteins, is a novel Golgi-associated protein
  JOURNAL   J Biol Chem 277 (11), 9307-9317 (2002)
   PUBMED   11748237
REFERENCE   8  (residues 1 to 870)
  AUTHORS   Wood JD, Yuan J, Margolis RL, Colomer V, Duan K, Kushi J, Kaminsky
            Z, Kleiderlein JJ, Sharp AH and Ross CA.
  TITLE     Atrophin-1, the DRPLA gene product, interacts with two families of
            WW domain-containing proteins
  JOURNAL   Mol Cell Neurosci 11 (3), 149-160 (1998)
   PUBMED   9647693
REFERENCE   9  (residues 1 to 870)
  AUTHORS   Jonsson AB.
  TITLE     Identification of a human cDNA clone that mediates adherence of
            pathogenic Neisseria to non-binding cells
  JOURNAL   FEMS Microbiol Lett 162 (1), 25-30 (1998)
   PUBMED   9595660
REFERENCE   10 (residues 1 to 870)
  AUTHORS   Pirozzi G, McConnell SJ, Uveges AJ, Carter JM, Sparks AB, Kay BK
            and Fowlkes DM.
  TITLE     Identification of novel human WW domain-containing proteins by
            cloning of ligand targets
  JOURNAL   J Biol Chem 272 (23), 14611-14616 (1997)
   PUBMED   9169421
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC402912.1, U96114.2 and
            JN712744.1.
            On Jan 13, 2004 this sequence version replaced NP_008945.1.
            
            Summary: This gene encodes a member of the Nedd4 family of E3
            ligases, which play an important role in protein ubiquitination.
            The encoded protein contains four WW domains and may play a role in
            multiple processes including chondrogenesis and the regulation of
            oncogenic signaling pathways via interactions with Smad proteins
            and the tumor suppressor PTEN. Alternatively spliced transcript
            variants encoding multiple isoforms have been observed for this
            gene, and a pseudogene of this gene is located on the long arm of
            chromosome 10. [provided by RefSeq, Jul 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (WWP2-FL). Variants 1
            and 5 encode the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.199885.1,
                                           SRR1803612.84429.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..870
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     Protein         1..870
                     /product="NEDD4-like E3 ubiquitin-protein ligase WWP2
                     isoform WWP2-FL"
                     /EC_number="2.3.2.26"
                     /note="atrophin-1 interacting protein 2; NEDD4-like E3
                     ubiquitin-protein ligase WWP2; HECT-type E3 ubiquitin
                     transferase WWP2"
                     /calculated_mol_wt=98781
     Region          17..142
                     /region_name="C2_E3_ubiquitin_ligase"
                     /note="C2 domain present in E3 ubiquitin ligase; cd04021"
                     /db_xref="CDD:175988"
     Region          151..299
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00308.2)"
     Region          <164..343
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            211
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O00308.2)"
     Region          302..331
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Site            order(317,328)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          332..361
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Site            order(347,358)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          407..435
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Site            order(421,432)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          447..477
                     /region_name="WW"
                     /note="Two conserved tryptophans domain; also known as the
                     WWP or rsp5 domain; around 40 amino acids; functions as an
                     interaction module in a diverse set of signalling
                     proteins; binds specific proline-rich sequences but at low
                     affinities compared to other...; cd00201"
                     /db_xref="CDD:238122"
     Site            order(461,472)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          516..868
                     /region_name="HECTc"
                     /note="HECT domain; C-terminal catalytic domain of a
                     subclass of Ubiquitin-protein ligase (E3). It binds
                     specific ubiquitin-conjugating enzymes (E2), accepts
                     ubiquitin from E2, transfers ubiquitin to substrate lysine
                     side chains, and transfers additional...; cd00078"
                     /db_xref="CDD:238033"
     Site            order(521,551,562,623,797,832..833,836..840,860,867)
                     /site_type="active"
                     /note="catalytic cleft [active]"
                     /db_xref="CDD:238033"
     Site            order(651,654..655,657..658,661,668,670,673..674,676,682,
                     687,704,708)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..870
                     /gene="WWP2"
                     /gene_synonym="AIP2; WWp2-like"
                     /coded_by="NM_007014.5:129..2741"
                     /note="isoform WWP2-FL is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS10885.1"
                     /db_xref="GeneID:11060"
                     /db_xref="HGNC:HGNC:16804"
                     /db_xref="MIM:602308"
ORIGIN      
        1 masasssrag valpfeksql tlkvvsakpk vhnrqprins yvevavdglp setkktgkri
       61 gssellwnei iilnvtaqsh ldlkvwscht lrnellgtas vnlsnvlknn ggkmenmqlt
      121 lnlqtenkgs vvsggeltif ldgptvdlgn vpngsaltdg sqlpsrdssg tavapenrhq
      181 ppstncfggr srthrhsgas arttpatgeq spgarsrhrq pvknsghsgl angtvndept
      241 tatdpeepsv vgvtsppaap lsvtpnpntt slpapatpae geepstsgtq qlpaaaqapd
      301 alpagweqre lpngrvyyvd hntktttwer plppgwekrt dprgrfyyvd hntrtttwqr
      361 ptaeyvrnye qwqsqrnqlq gamqhfsqrf lyqsssastd hdplgplppg wekrqdngrv
      421 yyvnhntrtt qwedprtqgm iqepalppgw emkytsegvr yfvdhntrtt tfkdprpgfe
      481 sgtkqgspga ydrsfrwkyh qfrflchsna lpshvkisvs rqtlfedsfq qimnmkpydl
      541 rrrlyiimrg eegldyggia rewffllshe vlnpmyclfe yagknnyclq inpassinpd
      601 hltyfrfigr fiamalyhgk fidtgftlpf ykrmlnkrpt lkdlesidpe fynsivwike
      661 nnleecglel yfiqdmeilg kvtthelkeg gesirvteen keeyimlltd wrftrgveeq
      721 tkafldgfne vaplewlryf dekelelmlc gmqeidmsdw qkstiyrhyt knskqiqwfw
      781 qvvkemdnek rirllqfvtg tcrlpvggfa eligsngpqk fcidkvgket wlprshtcfn
      841 rldlppyksy eqlrekllya ieetegfgqe
//
LOCUS       NP_001372488             773 aa            linear   PRI 18-MAR-2023
DEFINITION  caprin-2 isoform 26 [Homo sapiens].
ACCESSION   NP_001372488 XP_024304910
VERSION     NP_001372488.1
DBSOURCE    REFSEQ: accession NM_001385559.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 773)
  AUTHORS   Ma B, Zhang W, Wang X, Jiang H, Tang L, Yang W, Kang Q and Cao J.
  TITLE     Polymorphisms in TRIB2 and CAPRIN2 Genes Contribute to the
            Susceptibility to High Myopia-Induced Cataract in Han Chinese
            Population
  JOURNAL   Med Sci Monit 29, e937702 (2023)
   PUBMED   36710479
  REMARK    GeneRIF: Polymorphisms in TRIB2 and CAPRIN2 Genes Contribute to the
            Susceptibility to High Myopia-Induced Cataract in Han Chinese
            Population.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 773)
  AUTHORS   Zheng Y, Zeng J, Xia H, Wang X, Chen H, Huang L and Zeng C.
  TITLE     Upregulated lncRNA Cyclin-dependent kinase inhibitor 2B antisense
            RNA 1 induces the proliferation and migration of colorectal cancer
            by miR-378b/CAPRIN2 axis
  JOURNAL   Bioengineered 12 (1), 5476-5490 (2021)
   PUBMED   34511033
  REMARK    GeneRIF: Upregulated lncRNA Cyclin-dependent kinase inhibitor 2B
            antisense RNA 1 induces the proliferation and migration of
            colorectal cancer by miR-378b/CAPRIN2 axis.
REFERENCE   3  (residues 1 to 773)
  AUTHORS   Ai Y, Wu S, Zou C and Wei H.
  TITLE     LINC00941 promotes oral squamous cell carcinoma progression via
            activating CAPRIN2 and canonical WNT/beta-catenin signaling pathway
  JOURNAL   J Cell Mol Med 24 (18), 10512-10524 (2020)
   PUBMED   32691935
  REMARK    GeneRIF: LINC00941 promotes oral squamous cell carcinoma
            progression via activating CAPRIN2 and canonical WNT/beta-catenin
            signaling pathway.
REFERENCE   4  (residues 1 to 773)
  AUTHORS   Wang X, Jia Y, Fei C, Song X and Li L.
  TITLE     Activation/Proliferation-associated Protein 2 (Caprin-2) Positively
            Regulates CDK14/Cyclin Y-mediated Lipoprotein Receptor-related
            Protein 5 and 6 (LRP5/6) Constitutive Phosphorylation
  JOURNAL   J Biol Chem 291 (51), 26427-26434 (2016)
   PUBMED   27821587
  REMARK    GeneRIF: findings revealed an unrecognized role of Caprin-2 in
            facilitating LRP5/6 constitutive phosphorylation at G2/M through
            forming a quaternary complex with CDK14, Cyclin Y, and LRP5/6.
REFERENCE   5  (residues 1 to 773)
  AUTHORS   Miao H, Jia Y, Xie S, Wang X, Zhao J, Chu Y, Zhou Z, Shi Z, Song X
            and Li L.
  TITLE     Structural insights into the C1q domain of Caprin-2 in canonical
            Wnt signaling
  JOURNAL   J Biol Chem 289 (49), 34104-34113 (2014)
   PUBMED   25331957
  REMARK    GeneRIF: Caprin-2 C1q-related domain forms a flexible homotrimer
            mediated by calcium, and this trimeric assembly is required for the
            functioning of caprin-2.
REFERENCE   6  (residues 1 to 773)
  AUTHORS   Shiina N and Tokunaga M.
  TITLE     RNA granule protein 140 (RNG140), a paralog of RNG105 localized to
            distinct RNA granules in neuronal dendrites in the adult vertebrate
            brain
  JOURNAL   J Biol Chem 285 (31), 24260-24269 (2010)
   PUBMED   20516077
REFERENCE   7  (residues 1 to 773)
  AUTHORS   Ding Y, Xi Y, Chen T, Wang JY, Tao DL, Wu ZL, Li YP, Li C, Zeng R
            and Li L.
  TITLE     Caprin-2 enhances canonical Wnt signaling through regulating LRP5/6
            phosphorylation
  JOURNAL   J Cell Biol 182 (5), 865-872 (2008)
   PUBMED   18762581
  REMARK    GeneRIF: Caprin-2 promotes activation of the canonical Wnt
            signaling pathway by regulating LRP5/6 phosphorylation.
REFERENCE   8  (residues 1 to 773)
  AUTHORS   Tao WA, Wollscheid B, O'Brien R, Eng JK, Li XJ, Bodenmiller B,
            Watts JD, Hood L and Aebersold R.
  TITLE     Quantitative phosphoproteome analysis using a dendrimer conjugation
            chemistry and tandem mass spectrometry
  JOURNAL   Nat Methods 2 (8), 591-598 (2005)
   PUBMED   16094384
REFERENCE   9  (residues 1 to 773)
  AUTHORS   Grill B, Wilson GM, Zhang KX, Wang B, Doyonnas R, Quadroni M and
            Schrader JW.
  TITLE     Activation/division of lymphocytes results in increased levels of
            cytoplasmic activation/proliferation-associated protein-1:
            prototype of a new family of proteins
  JOURNAL   J Immunol 172 (4), 2389-2400 (2004)
   PUBMED   14764709
REFERENCE   10 (residues 1 to 773)
  AUTHORS   Aerbajinai W, Lee YT, Wojda U, Barr VA and Miller JL.
  TITLE     Cloning and characterization of a gene expressed during terminal
            differentiation that encodes a novel inhibitor of growth
  JOURNAL   J Biol Chem 279 (3), 1916-1921 (2004)
   PUBMED   14593112
  REMARK    GeneRIF: regulated expression of EEG-1 is involved in the
            orchestrated regulation of growth that occurs as erythroblasts
            shift from a highly proliferative state toward their terminal phase
            of differentiation.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010198.8.
            On Jul 22, 2020 this sequence version replaced XP_024304910.1.
            
            Summary: The protein encoded by this gene may regulate the
            transport of mRNA. It may play a role in the differentiation of
            erythroblasts. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Feb
            2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.4201810.1,
                                           SRR14038192.2786550.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..773
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     Protein         1..773
                     /product="caprin-2 isoform 26"
                     /note="RNA granule protein 140; C1q domain-containing
                     protein 1; gastric cancer multidrug resistance-associated
                     protein; cytoplasmic activation/proliferation-associated
                     protein 2"
                     /calculated_mol_wt=85694
     Region          287..581
                     /region_name="Caprin-1_C"
                     /note="Cytoplasmic activation/proliferation-associated
                     protein-1 C term; pfam12287"
                     /db_xref="CDD:432456"
     Region          645..770
                     /region_name="C1q"
                     /note="C1q domain; pfam00386"
                     /db_xref="CDD:395310"
     CDS             1..773
                     /gene="CAPRIN2"
                     /gene_synonym="C1QDC1; EEG-1; EEG1; RNG140"
                     /coded_by="NM_001385559.1:984..3305"
                     /note="isoform 26 is encoded by transcript variant 72"
                     /db_xref="GeneID:65981"
                     /db_xref="HGNC:HGNC:21259"
                     /db_xref="MIM:610375"
ORIGIN      
        1 mliqsekktq lsktesvkes eslmefaqpe iqpqeflnrr ymtevdysnk qgeeqpwead
       61 yarkpnlpkr wdmltepdgq ekkqesfksw easgkhqevs kpavsleqrk qdtsklrstl
      121 peeqkkqeis kskpspsqwk qdtpkskagy vqeeqkkqet pklwpvqlqk eqdpkkqtpk
      181 swtpsmqseq nttkswttpm ceeqdskqpe tpkswennve sqkhsltsqs qispkswgva
      241 taslipndql lprklntepk dvpkpvhqpv gssstlpkdp vlrkeklqdl mtqiqgtcnf
      301 mqesvldfdk pssaiptsqp psatpgspva skeqnlssqs dflqeplqat sspvtcssna
      361 clvttdqass gsetefmtse tpeaaippgk qpsslaspnp pmakgseqgf qsppassssv
      421 tintapfqam qtvfnvnapl pprkeqeike spyspgynqs fttastqtpp qcqlpsihve
      481 qtvhsqetaq tnvfprptqp fvnsrgsvrg ctrggrlitn syrspggykg fdtyrglpsi
      541 sngnysqlqf qareysgapy sqrdnfqqcy krggtsggpr ansragwsds sqvssperdn
      601 etfnsgdsgq gdsrsmtpvd vpvtnpaati lpvhvyplpq qmrvafsaar tsnlapgtld
      661 qpivfdllln nlgetfdlql grfncpvngt yvfifhmlkl avnvplyvnl mkneevlvsa
      721 yandgapdhe tasnhailql fqgdqiwlrl hrgaiygssw kystfsgyll yqd
//
LOCUS       XP_016856528             639 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 21 isoform X1 [Homo sapiens].
ACCESSION   XP_016856528
VERSION     XP_016856528.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001039.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..639
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..639
                     /product="ubiquitin carboxyl-terminal hydrolase 21 isoform
                     X1"
                     /calculated_mol_wt=71232
     Region          212..629
                     /region_name="UCH"
                     /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443"
                     /db_xref="CDD:425685"
     CDS             1..639
                     /gene="USP21"
                     /gene_synonym="USP16; USP23"
                     /coded_by="XM_017001039.3:201..2120"
                     /db_xref="GeneID:27005"
                     /db_xref="HGNC:HGNC:12620"
                     /db_xref="MIM:604729"
ORIGIN      
        1 mpqasehrlg rtreppvniq prvgsklpfa prarskerrn pasgpnpmlr plpprpglpd
       61 erlkklelgr grtsgprprg plradhgvpl pgsppptval plpsrtnlar sksvssgdlr
      121 pmgialgghr gtgelgaals rlalrpeppt lrrstslrrl ggfpgpptlf sirteppash
      181 gsfhmisars sepfysddkm ahhtlllgsg hvglrnlgnt cflnavlqcl sstrplrdfc
      241 lrrdfrqevp gggraqelte afadvigalw hpdsceavnp trfravfqky vpsfsgysqq
      301 daqeflkllm erlhleinrr grrappilan gpvpspprrg galleepels dddranlmwk
      361 ryleredski vdlfvgqlks clkcqacgyr sttfevfcdl slpipkkgfa ggkvslrdcf
      421 nlftkeeele senapvcdrc rqktrstkkl tvqrfprilv lhilifrfll llgylpyilf
      481 ppcfqriefs lgkvchplfh kmlpvcrewg edsfqdrrss pqrptasqml lnqgldlnrf
      541 sasrgsikks svgvdfplqr lslgdfasdk agspvyqlya lcnhsgsvhy ghytalcrcq
      601 tgwhvyndsr vspvsenqva ssegyvlfyq lmqepprcl
//
LOCUS       XP_047275446            1452 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 18 isoform X7 [Homo sapiens].
ACCESSION   XP_047275446
VERSION     XP_047275446.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419490.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1452
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1452
                     /product="coiled-coil domain-containing protein 18 isoform
                     X7"
                     /calculated_mol_wt=168627
     Region          112..848
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          585..>1261
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..1452
                     /gene="CCDC18"
                     /gene_synonym="NY-SAR-41"
                     /coded_by="XM_047419490.1:132..4490"
                     /db_xref="GeneID:343099"
                     /db_xref="HGNC:HGNC:30370"
ORIGIN      
        1 messssdyyn kdneeeslla nvaslrhelk itewslqslg eelssvspse nsdyapnpsr
       61 seklildvqp shpgllnysp yenvckisgs stdfqkkprd kmfsssapvd qeikslrekl
      121 nklrqqnacl vtqnhslmtk fesihfeltq srakvsmles aqqqaasvpi leeqiinlea
      181 evsaqdkvlr eaenkleqsq kmviekeqsl qeskeecikl kvdlleqtkq gkraerqrne
      241 alynaeelsk afqqykkkva eklekvqaee eilernltnc ekenkrlqer cglykselei
      301 lkeklrqlke ennngkeklr imavknsevm aqltesrqsi lkleselenk deilrdkfsl
      361 mnenrelkvr vaaqnerldl cqqeiessrv elrslekiis qlplkrelfg fksylskyqm
      421 ssfsnkedrc igcceanklv iselriklai keaeiqklha nltanqlsqs litcndsqes
      481 sklssletep vklgghqves vkdqnqhtmn kqyekerqrl vtgieelrtk liqieaensd
      541 lkvnmahrts qfqliqeell ekasnsskle semtkkcsql ltlekqleek ivayssiaak
      601 naeleqelml eaqlekkdqq fkeqektmsm lqqdiickqh hlesldrllt eskgemkken
      661 mkkdealkal qnqvseetik vrqldsalei ckeelvlhln qlegnkekfe kqlkkkseev
      721 yclqkelkik nhslqetseq nvilqhtlqq qqqmlqqeti rngeledtqt klekqvskle
      781 qelqkqress aeklrkmeek cesaaheadl krqkvieltg tarqvkiemd qykeelskme
      841 keimhlkrdg enkamhlsql dmildqtkte lekktnavke leklqhstet eltealqkre
      901 vletelqnah gelkstlrql qelrdvlqka qlsleekytt ikdltaelre ckmeiedkkq
      961 ellemdqalk ernwelkqra aqvthldmti rehrgemeqk iiklegtlek selelkecnk
     1021 qieslndklq nakeqlreke fimlqneqei sqlkkeiert qqrmkemesv mkeqeqyiat
     1081 qykeaidlgq elrltreqvq nshtelaear hqqvqaqrei erlsseledm kqlskekdah
     1141 gnhlaeelga skvreahlea rmqaeikkls aeveslkeay hmemishqen hakwkisads
     1201 qkssvqqlne qlekaklele eaqdtvsnlh qqvqdrnevi eaanealltk eseltrlqak
     1261 isghekaedi kflpapftsp teimpdvqdp kfakcfhtsf skctklrrsi sasdltfkih
     1321 gdedlseell qdlkkmqleq pstleeshkn ltytqpdsfk pltynleads senndfntls
     1381 gmlryinkev rllkkssmqt gaglnqvcil ytvncnnlfp kniilllgrk fiylneklli
     1441 feegrfyily ik
//
LOCUS       XP_047279066             373 aa            linear   PRI 20-MAR-2023
DEFINITION  filamin-binding LIM protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047279066
VERSION     XP_047279066.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423110.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..373
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..373
                     /product="filamin-binding LIM protein 1 isoform X2"
                     /calculated_mol_wt=40539
     Region          <176..236
                     /region_name="LIM"
                     /note="LIM is a small protein-protein interaction domain,
                     containing two zinc fingers; cl02475"
                     /db_xref="CDD:413332"
     Site            order(183,186,205,208,211,214,232,235)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:259829"
     Region          243..295
                     /region_name="LIM2_FBLP-1"
                     /note="The second LIM domain of the filamin-binding LIM
                     protein-1 (FBLP-1); cd09372"
                     /db_xref="CDD:188758"
     Site            order(243,246,263,266,269,272,291,294)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188758"
     Region          303..364
                     /region_name="LIM"
                     /note="LIM is a small protein-protein interaction domain,
                     containing two zinc fingers; cl02475"
                     /db_xref="CDD:413332"
     Site            order(303,306,329,332,335,338,360,363)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:259829"
     CDS             1..373
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /coded_by="XM_047423110.1:462..1583"
                     /db_xref="GeneID:54751"
                     /db_xref="HGNC:HGNC:24686"
                     /db_xref="MIM:607747"
ORIGIN      
        1 maskpekrva ssvfitlapp rrdvavaeev rqavcearrg rpweapapmk tpeaglagrp
       61 spwttpgraa atvpaapmql fnggcppppp vldgedvlpd ldllpppppp ppvllpseee
      121 apapmgasli adleqlhlsp pppppqapae gpsvqpgplr pmeeelpppp aepvekgast
      181 dicafchktv sprelaveam krqyhaqcft crtcrrqlag qsfyqkdgrp lcepcyqdtl
      241 ercgkcgevv rdhiiralgq afhpscftcv tcarcigdes falgsqnevy clddfyrkfa
      301 pvcsicenpi iprdgkdafk iecmgrnfhe ncyrcedcri llsveptdqg cyplnnhlfc
      361 kpchvkrsaa gcc
//
LOCUS       XP_011539989             203 aa            linear   PRI 20-MAR-2023
DEFINITION  pre-mRNA-splicing factor 38B isoform X2 [Homo sapiens].
ACCESSION   XP_011539989
VERSION     XP_011539989.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011541687.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..203
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..203
                     /product="pre-mRNA-splicing factor 38B isoform X2"
                     /calculated_mol_wt=22519
     Region          47..>186
                     /region_name="PRP38"
                     /note="PRP38 family; pfam03371"
                     /db_xref="CDD:427266"
     CDS             1..203
                     /gene="PRPF38B"
                     /gene_synonym="NET1"
                     /coded_by="XM_011541687.4:283..894"
                     /db_xref="GeneID:55119"
                     /db_xref="HGNC:HGNC:25512"
ORIGIN      
        1 mannspaltg nsqpqhqaaa aaaqqqqqcg gggatkpavs gkqgnvlplw gnektmnlnp
       61 miltnilssp yfkvqlyelk tyhevvdeiy fkvthvepwe kgsrktagqt gmcggvrgvg
      121 tggivstafc llyklftlkl trkqvmglit htdspyiral gfmyirytqp ptdlwdwfes
      181 flddeevcqq gylqrlylei lyi
//
LOCUS       XP_047284165             658 aa            linear   PRI 20-MAR-2023
DEFINITION  la-related protein 4 isoform X8 [Homo sapiens].
ACCESSION   XP_047284165
VERSION     XP_047284165.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428209.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..658
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..658
                     /product="la-related protein 4 isoform X8"
                     /calculated_mol_wt=72788
     Region          125..199
                     /region_name="LARP_4"
                     /note="La RNA-binding domain of La-related protein 4;
                     cd08035"
                     /db_xref="CDD:153404"
     Site            order(131,134..135,140,143..144,146,165..167)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:153404"
     Region          204..274
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     CDS             1..658
                     /gene="LARP4"
                     /gene_synonym="PP13296"
                     /coded_by="XM_047428209.1:127..2103"
                     /db_xref="GeneID:113251"
                     /db_xref="HGNC:HGNC:24320"
                     /db_xref="MIM:618657"
ORIGIN      
        1 mllfvevask gtglnpnakv wqeiapgntd atpvthgtes swheiaatsg ahpevsvfnt
       61 gnaelsedic keyevmysss cettrnttgi eestdgmilg pedlsyqiyd vsgesnsavs
      121 tedlkeclkk qlefcfsren lskdlylisq mdsdqfipiw tvanmeeikk lttdpdlile
      181 vlrsspmvqv dekgekvrps hkrcivilre ipettpieev kglfksencp kviscefahn
      241 snwyitfqsd tdaqqafkyl reevktfqgk pimapfpngs fvngfnspgs yktnaaamnm
      301 grpfqknrvk pqfrssggse hstegsvslg dgqlnryssr nfpaerhnpt vtghqeqtyl
      361 qketstlqve qngdygrgrr tlfrgrrrre ddrisrphps taeskaptpk fdllasnfpp
      421 lpgsssrmpg elvlenrmsd vvkgvykekd neeltiscpv padeqtects aqqlnmstss
      481 pcaaeltals ttqqekdlie dssvqkdgln qttipvspps ttkpsrasta spcnnninaa
      541 tavalqeprk lsyaevcqkp pkepssvlvq plrelrsnvv sptknednga pensvekphe
      601 kpearaskdy sgfrgniipr gaagkireqr rqfshraipq gvtrrngkeq yvpprspk
//
LOCUS       XP_016875306             306 aa            linear   PRI 20-MAR-2023
DEFINITION  sin3 histone deacetylase corepressor complex component SDS3 isoform
            X2 [Homo sapiens].
ACCESSION   XP_016875306
VERSION     XP_016875306.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019817.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..306
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..306
                     /product="sin3 histone deacetylase corepressor complex
                     component SDS3 isoform X2"
                     /calculated_mol_wt=35852
     Region          49..>152
                     /region_name="Sds3"
                     /note="Sds3-like; pfam08598"
                     /db_xref="CDD:430099"
     CDS             1..306
                     /gene="SUDS3"
                     /gene_synonym="SAP45; SDS3"
                     /coded_by="XM_017019817.2:720..1640"
                     /db_xref="GeneID:64426"
                     /db_xref="HGNC:HGNC:29545"
                     /db_xref="MIM:608250"
ORIGIN      
        1 mltlrpvlcp rlhllspkps hclqtepqpn rfretktslt fsvhpdgkrm yqdklaslkr
       61 qlqqlqegtl qeyqkrmkkl dqqykerirn aelflqlete qvernyikek kaavkefedk
      121 kvelkenlia eleekkkmie nekltmeltg dsmevkpimt rklrrrpndp vpipdkrrkp
      181 apaqlnyllt deqimedlrt lnklkspkrp aspsspehlp atpaespaqr feariedgkl
      241 yydkrwyhks qaiyleskdn qklscvissv ganeiwvrkt sdstkmriyl gqlqrglfvi
      301 rrrsaa
//
LOCUS       XP_005266374             666 aa            linear   PRI 20-MAR-2023
DEFINITION  spartin isoform X1 [Homo sapiens].
ACCESSION   XP_005266374
VERSION     XP_005266374.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005266317.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..666
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..666
                     /product="spartin isoform X1"
                     /calculated_mol_wt=72702
     Region          16..95
                     /region_name="MIT_spastin"
                     /note="MIT: domain contained within Microtubule
                     Interacting and Trafficking molecules. This MIT domain
                     sub-family is found in the AAA protein spastin, a probable
                     ATPase involved in the assembly or function of nuclear
                     protein complexes; spastins might also be...; cd02679"
                     /db_xref="CDD:239142"
     Region          427..611
                     /region_name="Senescence"
                     /note="Senescence-associated protein; pfam06911"
                     /db_xref="CDD:429189"
     CDS             1..666
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /coded_by="XM_005266317.4:53..2053"
                     /db_xref="GeneID:23111"
                     /db_xref="HGNC:HGNC:18514"
                     /db_xref="MIM:607111"
ORIGIN      
        1 meqepqngep aeikiireay kkaflfvnkg lntdelgqke eaknyykqgi ghllrgisis
       61 skesehtgpg wesarqmqqk mketlqnvrt rleilekgla tslqndlqev pklypefppk
      121 dmceklpepq sfssapqhae vngntstpsa gavaapasls lpsqscpaea ppaytpqaae
      181 ghytvsygtd sgefssvgee fyrnhsqppp letlgldade lilipngvqi ffvnpagevs
      241 apsypgylri vrfldnsldt vlnrppgflq vcdwlyplvp drspvlkcta gaymfpdtml
      301 qaagcfvgvv lsselpeddr elfedllrqm sdlrlqanwn raeeenefqi pgrtrpssdq
      361 lkeasgtdvk qldqgnkdvr hkgkrgkrak dtsseevnls hivpcepvpe ekpkelpews
      421 ekvahnilsg aswvswglvk gaeitgkaiq kgasklreri qpeekpvevs pavtkglyia
      481 kqatggaakv sqflvdgvct vancvgkela phvkkhgskl vpeslkkdkd gkspldgamv
      541 vaassvqgfs tvwqglecaa kcivnnvsae tvqtvrykyg ynageathha vdsavnvgvt
      601 ayninnigik amvkktatqt ghtlledyqi vdnsqrenqe gaanvnvrge kdeqtkevke
      661 akkkdk
//
LOCUS       XP_047286282            1507 aa            linear   PRI 20-MAR-2023
DEFINITION  LIM domain only protein 7 isoform X17 [Homo sapiens].
ACCESSION   XP_047286282
VERSION     XP_047286282.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430326.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1507
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..1507
                     /product="LIM domain only protein 7 isoform X17"
                     /calculated_mol_wt=171920
     Region          9..>71
                     /region_name="DUF4757"
                     /note="Domain of unknown function (DUF4757); pfam15949"
                     /db_xref="CDD:435034"
     Region          423..570
                     /region_name="DUF4757"
                     /note="Domain of unknown function (DUF4757); pfam15949"
                     /db_xref="CDD:435034"
     Region          838..905
                     /region_name="PDZ"
                     /note="PDZ domain, also called DHR (Dlg homologous region)
                     or GLGF (after a conserved sequence motif). Many PDZ
                     domains bind C-terminal polypeptides, though binding to
                     internal (non-C-terminal) polypeptides and even to lipids
                     has been demonstrated; cd00136"
                     /db_xref="CDD:238080"
     Site            order(838..840,842,888,891..892)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238080"
     Region          <1051..1107
                     /region_name="GBP_C"
                     /note="Guanylate-binding protein, C-terminal domain;
                     cl20817"
                     /db_xref="CDD:450829"
     Region          <1054..>1209
                     /region_name="DUF5401"
                     /note="Family of unknown function (DUF5401); pfam17380"
                     /db_xref="CDD:375164"
     Region          1094..1105
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:293879"
     Region          1438..1496
                     /region_name="LIM"
                     /note="LIM is a small protein-protein interaction domain,
                     containing two zinc fingers; cd08368"
                     /db_xref="CDD:259829"
     Site            order(1438,1441,1461,1464,1467,1470,1492,1495)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:259829"
     CDS             1..1507
                     /gene="LMO7"
                     /gene_synonym="FBX20; FBXO20; LMO7b; LOMP"
                     /coded_by="XM_047430326.1:613..5136"
                     /db_xref="GeneID:4008"
                     /db_xref="HGNC:HGNC:6646"
                     /db_xref="MIM:604362"
ORIGIN      
        1 mqdynkddms yrrisavepk talpfnrflp nksrqpsyvp aplrkkkpdk hednrrswas
       61 pvyteadgtf ssnqrriwgt nvenwptvqg tsksscylee ekaktrsipn ivkddlyvrk
      121 lspvmpnpgn afdqflpkcw tpedvnwkri kretykpwyk efqgfsrrns dsededsgsd
      181 rsatvfsraq kaehrldgnc qrpslllela tkravkspds haarrsssas depsqflllq
      241 alqtysddil ssethtkidp tsgprlitrr knlsyapgyr rddlemaald pdlenddffv
      301 rktgafhanp yvlrafedfr kfseqddsve rdiilqcreg elvlpdlekd dmivrripaq
      361 kkevplsgap dryhpvpfpe pwtlppeiqa kflcvlertc pskeksnscr ilvpsyrqkk
      421 ddmltrkiqs wklgttvppi sftpgpcsea dlkrweaire asrlrhkkrl mverlfqkiy
      481 gengsksmsd vsaedvqnlr qlryeemqki ksqlkeqdqk wqddlakwkd rrksytsdlq
      541 kkkeereeie kqalekskrs sktfkemlqd resqnqkstv psrrrmysfd dvleegkrpp
      601 tmtvseasyq serveekgat ypseipkeds ttfakredrv tteiqlpsqs pveeqspasl
      661 sslrsrstqm estrvsaslp rsyrktdtvr ltsvvtprpf gsqtrgissl prsytmddaw
      721 kyngdvedik rtpnnvvstp apspdasqla sslssqkeva ateedvtrlp sptspfssls
      781 qdqaatskat lsstsgldlm sesgegeisp qrevsrsqdq fsdmrisinq tpgksldfgf
      841 tikwdipgif vasveagspa efsqlqvdde iiainntkfs yndskeweea makaqetghl
      901 vmdvrrygka dwgkdqpslp firhktlnlt smatkiigsp etkwidatsg iynsekssnl
      961 svttdfsesl qssnieskei ngihdesnaf eskasesisl knlkrrsqff eqgssgfsys
     1021 swvylcgssd svvpdlpvpt isapsrwvwd qeeerkrqer wqkeqdrllq ekyqreqekl
     1081 reewqrakqe aerenskyld eelmvlssns mslttrepsl atweatwseg skssdregtr
     1141 ageeerrqpq eevvhedqgk kpqdqlvier erkweqqlqe eqeqkrlqae aeeqkrpaee
     1201 qkrqaeiere tsvriyqyrr pvdsydipkt eeassgflpg drnksrstte lddystnkng
     1261 nnkyldqign mtssqrrskk eqvpsgaele rqqilqemrk rtplhndnsw irqrsasvnk
     1321 epvslpgimr rgesldnlds prsnswrqpp wlnqptgfya sssvqdfsrp ppqlvstsnr
     1381 aymrnpsssv pppsagsvkt sttgvattqs ptprshspsa sqsgsqlrnr svsgkricsy
     1441 cnnilgkgaa miieslglcy hlhcfkcvac ecdlggsssg aevrirnhql ycndcylrfk
     1501 sgrptam
//
LOCUS       XP_047286508             629 aa            linear   PRI 20-MAR-2023
DEFINITION  high affinity cationic amino acid transporter 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047286508
VERSION     XP_047286508.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430552.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..629
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..629
                     /product="high affinity cationic amino acid transporter 1
                     isoform X1"
                     /calculated_mol_wt=67508
     Region          4..610
                     /region_name="2A0303"
                     /note="cationic amino acid transport permease; TIGR00906"
                     /db_xref="CDD:273330"
     CDS             1..629
                     /gene="SLC7A1"
                     /gene_synonym="ATRC1; CAT-1; ERR; HCAT1; REC1L"
                     /coded_by="XM_047430552.1:1085..2974"
                     /db_xref="GeneID:6541"
                     /db_xref="HGNC:HGNC:11057"
                     /db_xref="MIM:104615"
ORIGIN      
        1 mgckvllnig qqmlrrkvvd csreetrlsr clntfdlval gvgstlgagv yvlagavare
       61 nagpaivisf liaalasvla glcygefgar vpktgsayly syvtvgelwa fitgwnlils
      121 yiigtssvar awsatfdeli grpigefsrt hmtlnapgvl aenpdifavi iililtgllt
      181 lgvkesamvn kiftcinvlv lgfimvsgfv kgsvknwqlt eedfgntsgr lclnndtkeg
      241 kpgvggfmpf gfsgvlsgaa tcfyafvgfd ciattgeevk npqkaipvgi vasllicfia
      301 yfgvsaaltl mmpyfcldnn splpdafkhv gwegakyava vgslcalsas llgsmfpmpr
      361 viyamaedgl lfkflanvnd rtktpiiatl asgavaavma flfdlkdlvd lmsigtllay
      421 slvaacvlvl ryqpeqpnlv yqmastsdel dpadqnelas tndsqlgflp eaemfslkti
      481 lspknmepsk isglivnist sliavliitf civtvlgrea ltkgalwavf llagsallca
      541 vvtgviwrqp esktklsfkv pflpvlpils ifvnvylmmq ldqgtwvrfa vwmligfiiy
      601 fgyglwhsee asldadqart pdgnldqck
//
LOCUS       XP_047287203            1289 aa            linear   PRI 20-MAR-2023
DEFINITION  signal-induced proliferation-associated 1-like protein 1 isoform X9
            [Homo sapiens].
ACCESSION   XP_047287203
VERSION     XP_047287203.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431247.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1289
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1289
                     /product="signal-induced proliferation-associated 1-like
                     protein 1 isoform X9"
                     /calculated_mol_wt=143071
     Region          135..315
                     /region_name="Rap_GAP"
                     /note="Rap/ran-GAP; pfam02145"
                     /db_xref="CDD:426620"
     Region          459..529
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(469..472,474,516..517,520..521)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          989..1234
                     /region_name="SPAR_C"
                     /note="C-terminal domain of SPAR protein; pfam11881"
                     /db_xref="CDD:432158"
     CDS             1..1289
                     /gene="SIPA1L1"
                     /gene_synonym="E6TP1; SPAR1"
                     /coded_by="XM_047431247.1:302..4171"
                     /db_xref="GeneID:26037"
                     /db_xref="HGNC:HGNC:20284"
                     /db_xref="MIM:617504"
ORIGIN      
        1 maqeykhwny fgadenlgpv avsirrekpd emkengspyn yriifrtsel mtlrgsvled
       61 aipstakhst arglplkevl ehvvpelnvq clrlafntpk vteqlmklde qglnyqqkvg
      121 imyckagqst eeemynnesa gpafeeflql lgervrlkgf ekyraqldtk tdstgthsly
      181 ttykdyeimf hvstmlpytp nnkqqllrkr higndivtiv fqepgaqpfs pknirshfqh
      241 vfvivrvhnp csdsvcysva vtrsrdvpsf gppipkgvtf pksnvfrdfl lakvinaena
      301 ahksekfram atrtrqeylk dlaeknvtnt pidpsgkfpf islaskkkek skpypgaels
      361 smgaivwavr aedynkamel dcllgisnef ivlieqetks vvfncscrdv igwtstdtsl
      421 kifyergecv svgsfiniee ikeivkrlqf vskgcesvem tlrrnglgql gfhvnyegiv
      481 advepygyaw qaglrqgsrl veickvavat lsheqmidll rtsvtvkvvi ipphddctpr
      541 rscsetyrmp vmeykmnegv syefkfpfrn nnkwqrnask gphspqvpsq vqspmtsrln
      601 agkgdgkmpp peraaniprs issdgrpler rlspgsdiyv tvssmalars qcrnspsnls
      661 sssdtgsvgg tyrqksmpeg fgvsrrspas idrqntqsdi ggsgkstpsw qrsedsiadq
      721 meptchlpav skvlpafres psgrlmrqdp vvhlspnkqg hsdshysshs ssntlssnas
      781 sahsdekwyd gdrteselns ynylqgtsad sgidttsygp shgstaslga atssprsgpg
      841 kekvaplwhs ssevismadr tleteshgld rktesslsld ihsksqagst pltrenstfs
      901 indaashtst mssrhsaspv vftsarsspk eelhpaapsq lapsfsssss sssgprsfyp
      961 rqgatskyli gwkkpegtin svgfmdtrkr hqsdgneiah trlrastrdl raspkptsks
     1021 tieedlkkli dlesptpesq ksfkfhalss pqspfpstpt srralhrtls desiynsqre
     1081 hfftsrasll dqalpndvlf sstypslpks lplrrpsytl gmkslhgefs asdssltdiq
     1141 etrrqpmpdp glmplpdtaa dldwsnlvda akayevqras ffaasdenhr plsaasnsdq
     1201 ledqalaqmk pyssskdssp tlaskvdqle gmlkmlredl kkekedkahl qaevqhlred
     1261 nlrlqeesqn asdklkkfte wvfntidms
//
LOCUS       XP_047287388            2103 aa            linear   PRI 20-MAR-2023
DEFINITION  ninein isoform X3 [Homo sapiens].
ACCESSION   XP_047287388
VERSION     XP_047287388.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431432.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2103
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..2103
                     /product="ninein isoform X3"
                     /calculated_mol_wt=244386
     Region          <407..795
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          737..>867
                     /region_name="PRK12704"
                     /note="phosphodiesterase; Provisional"
                     /db_xref="CDD:237177"
     Region          890..1618
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          <1402..>2065
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..2103
                     /gene="NIN"
                     /gene_synonym="SCKL7"
                     /coded_by="XM_047431432.1:233..6544"
                     /db_xref="GeneID:51199"
                     /db_xref="HGNC:HGNC:14906"
                     /db_xref="MIM:608684"
ORIGIN      
        1 mdeveqdqhe arlkelfdsf dttgtgslgq eeltdlchml sleevapvlq qtllqdnllg
       61 rvhfdqfkea lililsrtls neehfqepdc sleaqpkyvr ggkrygrrsl pefqesveef
      121 pevtviepld eearpshipa gdcsehwktq rseeyeaegq lrfwnpddln asqsgssppq
      181 dwieeklqev cedlgitrdg hlnrkklvsi ceqyglqnvd gemleevfhn ldpdgtmsve
      241 dffyglfkng ksltpsastp yrqlkrhlsm qsfdesgrrt ttssamtsti gfrvfscldd
      301 gmghasveri ldtwqeegie nsqeilkald fsldgninlt eltlalenel lvtknsihqa
      361 alasfkaeir hllervdqvv rekeklrsdl dkaeklkslm asevddhhaa ierrneynlr
      421 kldeeykeri aalknelrke reqilqqagk qrleleqeie kakteenyir drlalslken
      481 srlenellen aeklaeyenl tnklqrnlen vlaekvlqdq vdelqselee yraqgrvlrl
      541 plknspseev eansggiepe hglgseecnp lnmsieaelv ieqmkeqhhr dicclrlele
      601 dkvrhyekql detvvsckka qenmkqrhen ethtlekqis dlkneiaelq gqaavlkeah
      661 heatcrheee kkqlqvklee ekthlqeklr lqhemelkar ltqaqasfer ereglqssaw
      721 teekvrgltq eleqfhqeql tslvekhtle keelrkelle khqrelqegr ekmetecnrr
      781 tsqieaqfqs dcqkvterce salqslegry rqelkdlqeq qreeksqwef ekdeltqeca
      841 eaqellketl krekttslvl tqeremlekt ykehlnsmvv erqqllqdle dlrnvsetqq
      901 sllsdqilel ksshkrelre reevlcqaga seqlasqrle rlemehdqer qemmskllam
      961 enihkatcet adreraemst eisrlqskik emqqatspls mlqsgcqvig eeevegdgal
     1021 sllqqgeqll eengdvllsl qraheqavke nvkmateisr lqqrlqklep glvmssclde
     1081 pateffgnta eqteqflqqn rtkqvegvtr rhvlsdledd evrdlgstgt ssvqrqevki
     1141 eeseasvegf selenseetr teswelknqi sqlqeqlmml cadcdrasek kqdllfdvsv
     1201 lkkklkmler ipeaspkykl lyedvsrend clqeelrmme trydealenn keltaevfrl
     1261 qdelkkmeev tetflsleks ydevkieneg lnvlvlrlqg kieklqesvv qrcdcclwea
     1321 slenleiepd gnilqlnqtl eecvprvrsv hhvieeckqe nqylegntql lekvkaheia
     1381 wlhgtiqthq erprvqnqvi leenttllgf qdkhfqhqat iaelelektk lqeltrklke
     1441 rvtilvkqkd vlshgekeee lkammhdlqi tcsemqqkve llryeseklq qensilrnei
     1501 ttlneedsis nlklgtlngs qeemwqktet vkqenaavqk mvenlkkqis elkiknqqld
     1561 lentelsqkn sqnqeklqel nqrltemlcq kekepgnsal eereqekfnl keelerckvq
     1621 sstlvsslea elsevkiqth ivqqenhllk delekmkqlh rcpdlsdfqq kissvlsyne
     1681 kllkekeals eelnscvdkl akssllehri atmkqeqksw ehqsaslksq lvasqekvqn
     1741 ledtvqnvnl qmsrmksdlr vtqqekealk qevmslhkql qnaggkswap eiathpsglh
     1801 nqqkrlswdk ldhlmneeqq llwqenerlq tmvqntkael thsrekvrql esnllpkhqk
     1861 hlnpsgtmnp teqeklslkr ecdqfqkeqs panrkvsqmn sleqeletih leneglkkkq
     1921 vkldeqlmem qhlrstatps psphawdlql lqqqacpmvp reqflqlqrq llqaerinqh
     1981 lqeelenrts etntpqgnqe qlvtvmeerm ieveqklklv krllqekvnq lkeqlckntk
     2041 adamvkdlyv enaqllkale vteqrqktae kknylleeki aslsnivrnl tpapltstpp
     2101 lrs
//
LOCUS       XP_047292065             955 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM37 isoform X12 [Homo sapiens].
ACCESSION   XP_047292065
VERSION     XP_047292065.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436109.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..955
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..955
                     /product="E3 ubiquitin-protein ligase TRIM37 isoform X12"
                     /calculated_mol_wt=107150
     Region          13..55
                     /region_name="mRING-HC-C4C4_TRIM37_C-VIII"
                     /note="Modified RING finger, HC subclass (C4C4-type),
                     found in tripartite motif-containing protein 37 (TRIM37)
                     and similar proteins; cd16619"
                     /db_xref="CDD:438281"
     Region          93..132
                     /region_name="Bbox2_TRIM37_C-VIII"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein 37 (TRIM37) and similar proteins;
                     cd19779"
                     /db_xref="CDD:380837"
     Region          132..254
                     /region_name="BBC"
                     /note="B-Box C-terminal domain; smart00502"
                     /db_xref="CDD:128778"
     Region          273..406
                     /region_name="MATH_TRIM37"
                     /note="Tripartite motif containing protein 37 (TRIM37)
                     family, MATH domain; TRIM37 is a peroxisomal protein and
                     is a member of the tripartite motif (TRIM) protein
                     subfamily, also known as the RING-B-box-coiled-coil (RBCC)
                     subfamily of zinc-finger proteins; cd03773"
                     /db_xref="CDD:239742"
     Site            322
                     /site_type="active"
                     /note="Mulibrey nanism-associated mutation residue
                     [active]"
                     /db_xref="CDD:239742"
     Site            order(328,372..374)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:239742"
     CDS             1..955
                     /gene="TRIM37"
                     /gene_synonym="MUL; POB1; TEF3"
                     /coded_by="XM_047436109.1:420..3287"
                     /db_xref="GeneID:4591"
                     /db_xref="HGNC:HGNC:7523"
                     /db_xref="MIM:605073"
ORIGIN      
        1 mdeqsvesia evfrcficme klrdarlcph csklccfsci rrwlteqraq cphcraplql
       61 relvncrwae evtqqldtlq lcsltkheen ekdkcenhhe klsvfcwtck kcichqcalw
      121 ggmhgghtfk plaeiyeqhv tkvneevakl rrrlmelisl vqevernvea vrnakdervr
      181 eirnavemmi arldtqlknk litlmgqkts ltqetelles llqevehqlr scskselisk
      241 sseilmmfqq vhrkpmasfv ttpvppdfts elvpsydsat fvlenfstlr qradpvyspp
      301 lqvsglcwrl kvypdgngvv rgyylsvfle lsaglpetsk yeyrvemvhq scndptknii
      361 refasdfevg ecwgynrffr ldllanegyl npqndtvilr fqvrsptffq ksrdqhwyit
      421 qleaaqtsyi qqinnlkerl tielsrtqks rdlsppdnhl spqnddalet rakksacsdm
      481 lleggpttas vreakedeed eekiqnedyh helsdgdldl dlvyedevnq ldgssssass
      541 tatsnteend ideetmsgen dveynnmele egelmedaaa agpagsshgy vgsssrisrr
      601 thlcsaatss lldidplili hlldlkdrss ienlwglqpr ppasllqpta sysrkdkdqr
      661 kqqamwrvps dlkmlkrlkt qmaevrcmkt dvkntlseik sssaasgdmq tslfsadqaa
      721 laacgtensg rlqdlgmell akssvancyi rncspgssqs gsrhsspral ihgsigdilp
      781 ktedrqckal dsdavvvavf sglpavekrr kmvtlganak gghleglqmt dlennsetge
      841 lqpvlpegas aapeeetcsp sflpgmssds diecdtenee qeehtsvggf hdsfmvmtqp
      901 pdedthssfp dgeqigpedl sfntdensgr qlplsiwchl vtlqpqlsng fekms
//
LOCUS       XP_005257468             761 aa            linear   PRI 20-MAR-2023
DEFINITION  endoplasmic reticulum membrane sensor NFE2L1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_005257468
VERSION     XP_005257468.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005257411.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..761
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..761
                     /product="endoplasmic reticulum membrane sensor NFE2L1
                     isoform X2"
                     /calculated_mol_wt=83191
     Region          640..707
                     /region_name="bZIP_NFE2-like"
                     /note="Basic leucine zipper (bZIP) domain of Nuclear
                     Factor, Erythroid-derived 2 (NFE2) and similar proteins: a
                     DNA-binding and dimerization domain; cd14720"
                     /db_xref="CDD:269868"
     Region          641..703
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:269868"
     Site            order(649..650,652..654,656..661,663..665)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:269868"
     Site            order(664,667..668,671..672,674..675,678..679,681..682,
                     685..686,688..689,692..693,695..696)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:269868"
     CDS             1..761
                     /gene="NFE2L1"
                     /gene_synonym="LCR-F1; NRF-1; NRF1; TCF11"
                     /coded_by="XM_005257411.5:597..2882"
                     /db_xref="GeneID:4779"
                     /db_xref="HGNC:HGNC:7781"
                     /db_xref="MIM:163260"
ORIGIN      
        1 mlslkkylte gllqftills ligvrvdvdt yltsqlpplr eiilgpssay tqtqfhnlrn
       61 tldgygihpk sidldnyfta rrllsqvral drfqvpttev nawlvhrdpe gsvsgsqpns
      121 glalesssgl qdvtgpdngv reseteqgfg edledlgava ppvsgdltke didlgagrev
      181 fdyshrqkeq dvekelrdgg eqdtwagega ealarnllvd getgesfpaq vpsgedqtal
      241 sleeclrlle atcpfgenae fpadissite avpseseppa lqnnllspll tgtespfdle
      301 qqwqdlmsim emqamevnts aseilysapp gdplstnysl apntpinqnv slhqaslggc
      361 sqdfllfspe veslpvasss tllplapsns tslnstfgst nltglffppq lngtandtag
      421 pelpdplggl ldeamldeis lmdlaieegf npvqasqlee efdsdsglsl dsshspssls
      481 ssegssssss ssssssssas ssasssfsee gavgyssdse tldleeaega vgyqpeyskf
      541 crmsyqdpaq lsclpylehv ghnhtynmap saldsadlpp psalkkgske kqadfldkqm
      601 srdehraram kipftndkii nlpveefnel lskyqlseaq lslirdirrr gknkmaaqnc
      661 rkrkldtiln lerdvedlqr dkarllrekv eflrslrqmk qkvqslyqev fgrlrdengr
      721 pyspsqyalq yagdgsvlli prtmadqqar rqerkpkdrr k
//
LOCUS       XP_047293032             409 aa            linear   PRI 20-MAR-2023
DEFINITION  cytohesin-1 isoform X1 [Homo sapiens].
ACCESSION   XP_047293032
VERSION     XP_047293032.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437076.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..409
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..409
                     /product="cytohesin-1 isoform X1"
                     /calculated_mol_wt=47228
     Region          <26..>97
                     /region_name="Caldesmon"
                     /note="pfam02029"
                     /db_xref="CDD:426572"
     Region          73..255
                     /region_name="Sec7"
                     /note="Sec7 domain; pfam01369"
                     /db_xref="CDD:426226"
     Site            order(163..170,199..212)
                     /site_type="active"
                     /note="active site/putative ARF binding site [active]"
                     /db_xref="CDD:238100"
     Region          270..390
                     /region_name="PH_GRP1-like"
                     /note="General Receptor for Phosphoinositides-1-like
                     Pleckstrin homology (PH) domain; cd01252"
                     /db_xref="CDD:269954"
     Site            order(270,298,300,302,312,315,317,348..350,352,355..360,
                     390)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:269954"
     Site            order(280,283,288,290,292,303,313,351,362..363)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:269954"
     CDS             1..409
                     /gene="CYTH1"
                     /gene_synonym="B2-1; CYTOHESIN-1; D17S811E; PSCD1; SEC7"
                     /coded_by="XM_047437076.1:189..1418"
                     /db_xref="GeneID:9267"
                     /db_xref="HGNC:HGNC:9501"
                     /db_xref="MIM:182115"
ORIGIN      
        1 mhspgglgrp cllqpcpavp sdltaeerqe lenirrrkqe lladiqrlkd eiaevaneie
       61 nlgsteerkn mqrnkqvamg rkkfnmdpkk giqfliendl lkntcediaq flykgeglnk
      121 taigdylger defniqvlha fvelheftdl nlvqalrqfl wsfrlpgeaq kidrmmeafa
      181 qrycqcnngv fqstdtcyvl sfaiimlnts lhnpnvkdkp tverfiamnr gindggdlpe
      241 ellrnlyesi knepfkiped dgndlthtff npdregwllk lgggrvktwk rrwfiltdnc
      301 lyyfeyttdk eprgiiplen lsirevedsk kpncfelyip dnkdqvikac kteadgrvve
      361 gnhtvyrisa ptpeekeewi kcikaaisrd pfyemlaark kkvsstkrh
//
LOCUS       XP_047299360             241 aa            linear   PRI 20-MAR-2023
DEFINITION  ly6/PLAUR domain-containing protein 6B isoform X1 [Homo sapiens].
ACCESSION   XP_047299360
VERSION     XP_047299360.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443404.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..241
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..241
                     /product="ly6/PLAUR domain-containing protein 6B isoform
                     X1"
                     /calculated_mol_wt=27025
     Region          111..216
                     /region_name="UPAR_LY6_2"
                     /note="Ly6/PLAUR domain-containing protein 6, Lypd6;
                     pfam16975"
                     /db_xref="CDD:435685"
     CDS             1..241
                     /gene="LYPD6B"
                     /gene_synonym="CT116; LYPD7"
                     /coded_by="XM_047443404.1:304..1029"
                     /db_xref="GeneID:130576"
                     /db_xref="HGNC:HGNC:27018"
ORIGIN      
        1 mdvklkkqpe swqrkdsvvf lslssqwtat alsiiglitl sanlftvper sltttfsfsr
       61 ykssdrpahk vsmlllchal aiavvqivif seswafakni nfynvrppld ptpfpnsfkc
      121 ftcenagdny ncnrwaedkw cpqntqyclt vhhftshgrs tsitkkcasr sechfvgchh
      181 srdsehtecr sccegmicnv elptnhtnav favmhaqrts gssaptlylp vlawvfvlpl
      241 l
//
LOCUS       XP_047299388             468 aa            linear   PRI 20-MAR-2023
DEFINITION  meiosis 1 arrest protein isoform X3 [Homo sapiens].
ACCESSION   XP_047299388
VERSION     XP_047299388.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443432.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..468
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..468
                     /product="meiosis 1 arrest protein isoform X3"
                     /calculated_mol_wt=52184
     CDS             1..468
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /coded_by="XM_047443432.1:119..1525"
                     /db_xref="GeneID:130951"
                     /db_xref="HGNC:HGNC:25183"
                     /db_xref="MIM:619098"
ORIGIN      
        1 mhpgrttgkg psthtqidqq pprllivhia lpswadictn lcealqnffs lacslmgpsr
       61 mslfslymvq dqhecilpfv qvkgnfarlq tciselrmlq regcfrsqga slrlavedgl
      121 qqfkqysrhv ttraaltyts leitiltsqp gkevvkqlee glkdtdlarv rrfqvvevtk
      181 gilehvdsas pvedtsndvc lkcdlqerll cpsllagtad gslrmddpkg dfitlyqmas
      241 qssashyklq vikalkssgl cesltyglpf ilrptscwql dwdeletnqq hfhalchsll
      301 krewlllakg eppgpghsqr ipastfyvim pshsltllvk avatrelmlp stfpllpedp
      361 hddslknves mldslelept ynplhvqshl yshlssiyak pqgrlhphwe sraprktgql
      421 qtnraratva plpmtpvpgr askmpaasks ssdafflpse wekdpsrp
//
LOCUS       XP_011509346            2178 aa            linear   PRI 20-MAR-2023
DEFINITION  bromodomain adjacent to zinc finger domain protein 2B isoform X13
            [Homo sapiens].
ACCESSION   XP_011509346
VERSION     XP_011509346.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011511044.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2178
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..2178
                     /product="bromodomain adjacent to zinc finger domain
                     protein 2B isoform X13"
                     /calculated_mol_wt=241082
     Region          744..813
                     /region_name="HAT_MBD"
                     /note="Methyl-CpG binding domains (MBD) present in
                     putative chromatin remodelling factor such as BAZ2A; BAZ2A
                     contains a MBD, DDT, PHD-type zinc finger and Bromo domain
                     suggesting that BAZ2A might be associated with histone
                     acetyltransferase (HAT) activity. The...; cd01397"
                     /db_xref="CDD:238691"
     Site            order(756,758,760,767,769,778,781,785)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238691"
     Region          <818..1036
                     /region_name="TPH"
                     /note="Trichohyalin-plectin-homology domain; pfam13868"
                     /db_xref="CDD:433539"
     Region          1064..1126
                     /region_name="DDT"
                     /note="domain in different transcription and chromosome
                     remodeling factors; smart00571"
                     /db_xref="CDD:214726"
     Region          1347..>1379
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          <1687..1726
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          1942..1990
                     /region_name="PHD_BAZ2B"
                     /note="PHD finger found in bromodomain adjacent to zinc
                     finger domain protein 2B (BAZ2B); cd15630"
                     /db_xref="CDD:277100"
     Site            order(1950,1956..1960,1978..1981)
                     /site_type="other"
                     /note="H3 histone binding site [polypeptide binding]"
                     /db_xref="CDD:277100"
     Region          2075..2171
                     /region_name="Bromo_BAZ2A_B_like"
                     /note="Bromodomain, BAZ2A/BAZ2B_like subfamily. Bromo
                     adjacent to zinc finger 2A (BAZ2A) and 2B (BAZ2B) were
                     identified as a novel human bromodomain gene by cDNA
                     library screening. BAZ2A is also known as Tip5
                     (Transcription termination factor I-interacting...;
                     cd05503"
                     /db_xref="CDD:99935"
     Site            order(2099,2104,2107,2146,2150,2156)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99935"
     CDS             1..2178
                     /gene="BAZ2B"
                     /gene_synonym="WALp4"
                     /coded_by="XM_011511044.1:3..6539"
                     /db_xref="GeneID:29994"
                     /db_xref="HGNC:HGNC:963"
                     /db_xref="MIM:605683"
ORIGIN      
        1 mesgerlpss aassttptss stpsvasvvs kgglstgvas lsstinpcgh lfrtagdqpf
       61 nlstvssafp mvshpvfglh sassghsefg glgtlgtpta laahpqlasf pgaewwrttd
      121 ahtrtgatff ppllgipplf appaqnhdss sfhsrtsgks nrngpekgvn gsingsntss
      181 vigintsvls ttasssmgqt kstssgggnr kcnqeqsknq pldarvdkik dkkprkkame
      241 sssnsdsdsg tssdtssegi sssdsddlee deeeedqsie esedddsdse seaqhksnnq
      301 vllhgisdpk adgqkateka qekrihqplp lasesqthsf qsqqkqpqvl sqqlpfifqs
      361 sqakeesvnk htsviqstgl vsnvkplslv nqakketymk livpspdvlk agnkntsees
      421 slltselrsk reqykqafps qlkkqessks lkkviaalsn pkatssspah pkqtlennhp
      481 npfltnallg nhqpngviqs viqeaplalt tktkmqskin eniaaasstp fsspvnlsts
      541 grrtpgnqtp vmpsaspilh sqgkekavsn nvnpvktqhh shpakslveq frgtdsdips
      601 skdsedsned eeeddeeede eddeddesdd sqsesdsnse sdtegseeed dddkdqdesd
      661 sdtegektsm klnkttssvk spsmsltghs tprnlhiaka pgsapaalcs esqspaflgt
      721 ssstltssph sgtskrrrvt derelriple ygwqretrir nfggrlqgev ayyapcgkkl
      781 rqypevikgm qwcllkeedv ipriramegr rgrppnpdrq rareesrmrr rkgrppnvgn
      841 aefldnadak llrklqaqei arqaaqikll rklqkqeqar vakeakkqqa imaaeekrkq
      901 keqikimkqq ekikriqqir mekelraqqi leakkkkkee aanaklleae krikekemrr
      961 qqavllkhqe lerhrldmer errrqhmmlm kamearkkae ekerlkqekr dekrlnkerk
     1021 leqrrlelem akelkkpned mcladqkplp elpripglvl sgstfsdclm vvqflrnfgk
     1081 vlgfdvnidv pnlsvlqegl lnigdsmgev qdllvrllsa avcdpglitg ykaktalgeh
     1141 llnvgvnrdn vseilqifme ahcgqtelte slktkafqah tpaqkasvla flinelacsk
     1201 svvseidkni dymsnlrrdk wvvegklrkl riihakktgk rdtsggidlg eeqhplgtpt
     1261 pgrkrrrkgg dsdydddddd dsddqgdedd edeedkedkk gkktdicede degdqaasve
     1321 elekqiekls kqqsqyrrkl fdashslrsv mfgqdryrrr ywilpqcggi fvegmesgeg
     1381 leeiakerek lkkaesvqik eemfetsgds lncsntdhce qkedlkekdn tnlflqkpgs
     1441 fsklskllev akmppesevm tpkpnagang ctlsyqnsgk hslgsvqsta tqsnvekads
     1501 nnlfntgssg pgkfysplpn dqllktltek nrqwfsllpr tpcddtslth admstaslvt
     1561 pqsqppsksp sptpaplgss aqnpvglnpf alsplqvkgg vsmmglqfcg wptgvvtsni
     1621 pftssvpslg sglglsegng nsfltsnvas sksespvpqn ekatsaqpaa vevakpvdfp
     1681 spkpipeemq fgwwriidpe dlkallkvlh lrgirekalq kqiqkhldyi tqaclknkdv
     1741 aiielnenee nqvtrdiven wsveeqamem dlsvlqqved lerrvasasl qvkgwmcpep
     1801 aseredlvyf ehksftklck ehdgeftged essahalerk sdnpldiavt rladlernie
     1861 rrylksplst tiqikldnvg tvtvpapaps vsgdgdgiee diapglrvwr ralsearsaa
     1921 qvalciqqlq ksiaweksim kvycqicrkg dneellllcd gcdkgchtyc hrpkittipd
     1981 gdwfcpacia kasgqtlkik klhvkgkktn eskkgkkvtl tgdtededsa stssslkrgn
     2041 kdlkkrkmee ntsinlskqe sftsvkkpkr ddskdlalcs miltemethe dawpfllpvn
     2101 lklvpgykkv ikkpmdfsti reklssgqyp nletfaldvr lvfdncetfn eddsdigrag
     2161 hnmrkyfekk wtdtfkvs
//
LOCUS       XP_047300161             944 aa            linear   PRI 20-MAR-2023
DEFINITION  inositol polyphosphate-4-phosphatase type I A isoform X15 [Homo
            sapiens].
ACCESSION   XP_047300161
VERSION     XP_047300161.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444205.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..944
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..944
                     /product="inositol polyphosphate-4-phosphatase type I A
                     isoform X15"
                     /calculated_mol_wt=106008
     Region          44..157
                     /region_name="C2A_Copine"
                     /note="C2 domain first repeat in Copine; cd04048"
                     /db_xref="CDD:176013"
     Site            order(59,65,121,123,131)
                     /site_type="other"
                     /note="putative Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176013"
     CDS             1..944
                     /gene="INPP4A"
                     /gene_synonym="INPP4; TVAS1"
                     /coded_by="XM_047444205.1:394..3228"
                     /db_xref="GeneID:3631"
                     /db_xref="HGNC:HGNC:6074"
                     /db_xref="MIM:600916"
ORIGIN      
        1 mtarehsprh gararamqra stidvaadml glslagniqd pdepilefsl acselhtpsl
       61 drkpnsfvav svttppqafw tkhaqteiie gtnnpiflss iaffqdslin qmtqvklsvy
      121 dvkdrsqgtm yllgsgtfiv kdllqdrhhr lhltlrsaes drvgnitvig wqmeeksdqr
      181 ppvtrsvdtv ngrmvlpvde sltealgirs kyaslrkdtl lksvfggaic rmyrfpttdg
      241 nhlrileqma esvlslhvpr qfvkllleed aarvceleel gelspcwesl rrqivtqyqt
      301 iiltyqenlt dlhqyrgpsf kasslkadkk lefvptnlhi qrmrvqddgg sdqnydivti
      361 gapaahcqgf ksgglrkklh kfeetkkhts sgcqsiiyip qdvvrakeii aqintlktqv
      421 syyaerlsra akdrsatgle rtlailadkt rqlvtvcdck llansihgln aarpdyiask
      481 asptsteeeq vmlrndqdtl marwtgrnsr sslqvdwhee ewekvwlnvd ksleciiqrv
      541 dkllqkerlh gegcedvfpc agsctskkgn pdshaywirp edpfcdvpss pcpstmpsta
      601 chphltthcs pppeesspge wsealypllt tltdcvamms dkakkamvfl lmqdsaptia
      661 tylslqyrrd vvfcqtltal icgfiiklrn clhddgflrq lytigllaqf esllstygee
      721 lamledmslg imdlrnvtfk vtqatssasa dmlpvitgnr dgfnvrvplp gplfdalpre
      781 iqsgmllrvq pvlfnvgine qqtlaerfgd tslqevinve slvrlnsyfe qfkevlpedc
      841 lprsrsqtcl pellrflgqn vharknknvd ilwqaaeicr rlngvrftsc ksakdrtams
      901 vtleqclilq hehgmapqvf tqalecmrsr rvcrmkpgtk svyc
//
LOCUS       XP_047296532             493 aa            linear   PRI 20-MAR-2023
DEFINITION  matrilin-4 isoform X3 [Homo sapiens].
ACCESSION   XP_047296532
VERSION     XP_047296532.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440576.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..493
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..493
                     /product="matrilin-4 isoform X3"
                     /calculated_mol_wt=54456
     Region          31..253
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Site            order(40,111,147)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238119"
     Region          260..477
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Site            order(269,340,376)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238119"
     CDS             1..493
                     /gene="MATN4"
                     /coded_by="XM_047440576.1:401..1882"
                     /db_xref="GeneID:8785"
                     /db_xref="HGNC:HGNC:6910"
                     /db_xref="MIM:603897"
ORIGIN      
        1 mrgllcwpvl llllqpwetq lqltgprcht gpldlvfvid ssrsvrpfef etmrqflmgl
       61 lrglnvgpna trvgviqyss qvqsvfplra fsrredmera irdlvplaqg tmtglaiqya
      121 mnvafsvaeg arppeervpr vavivtdgrp qdrvaevaaq arargieiya vgvqradvgs
      181 lramasppld ehvflvesfd liqefglqfq srlcvrdlcn gvdhgcefqc vseglsyrcl
      241 cpegrqlqad gkscnrcreg hvdlvllvdg sksvrpqnfe lvkrfvnqiv dfldvspegt
      301 rvglvqfssr vrtefplgry gtaaevkqav laveymergt mtglalrhmv ehsfseaqga
      361 rpralnvprv glvftdgrsq ddisvwaara keegivmyav gvgkaveael reiasepael
      421 hvsyapdfgt mthllenlrg sicpeegisa gtelrspcec eslvefqgrt lgalesltln
      481 hilwgwwrgl egk
//
LOCUS       XP_047296872             529 aa            linear   PRI 20-MAR-2023
DEFINITION  1-acyl-sn-glycerol-3-phosphate acyltransferase gamma isoform X2
            [Homo sapiens].
ACCESSION   XP_047296872
VERSION     XP_047296872.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440916.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..529
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..529
                     /product="1-acyl-sn-glycerol-3-phosphate acyltransferase
                     gamma isoform X2"
                     /calculated_mol_wt=59196
     Region          170..478
                     /region_name="PLN02380"
                     /note="1-acyl-sn-glycerol-3-phosphate acyltransferase"
                     /db_xref="CDD:178006"
     CDS             1..529
                     /gene="AGPAT3"
                     /gene_synonym="1-AGPAT 3; LPAAT-GAMMA1; LPAAT3; LPLAT3"
                     /coded_by="XM_047440916.1:577..2166"
                     /db_xref="GeneID:56894"
                     /db_xref="HGNC:HGNC:326"
                     /db_xref="MIM:614794"
ORIGIN      
        1 mlcgyretdl pqtpfslslk glmawtsvis qrspesmvlw ppahsgtpgr gpvlaepptp
       61 vlslldnifs pvyklvqpea lraavptgsa dlvpwsfspa sgstgpraed aeqlpglpll
      121 rdlcgpaggg fgllllldgc pqrgavhpll ssamgllafl ktqfvlhllv gfvfvvsglv
      181 infvqlctla lwpvskqlyr rlncrlaysl wsqlvmllew wsctectlft dqatverfgk
      241 ehaviilnhn feidflcgwt mcerfgvlgs skvlakkell yvpligwtwy fleivfckrk
      301 weedrdtvve glrrlsdype ymwfllyceg trftetkhrv smevaaakgl pvlkyhllpr
      361 tkgfttavkc lrgtvaavyd vtlnfrgnkn psllgilygk kyeadmcvrr fplediplde
      421 keaaqwlhkl yqekdalqei ynqkgmfpge qfkparrpwt llnflswati llsplfsfvl
      481 gvfasgspll iltflgfvga asfgvrrlig vteiekgssy gnqefkkke
//
LOCUS       XP_047297064             354 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase Chk2 isoform X13 [Homo sapiens].
ACCESSION   XP_047297064
VERSION     XP_047297064.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441108.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..354
                     /product="serine/threonine-protein kinase Chk2 isoform
                     X13"
                     /calculated_mol_wt=39966
     Region          69..297
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..354
                     /gene="CHEK2"
                     /gene_synonym="CDS1; CHK2; hCds1; HuCds1; LFS2; PP1425;
                     RAD53"
                     /coded_by="XM_047441108.1:22..1086"
                     /db_xref="GeneID:11200"
                     /db_xref="HGNC:HGNC:16627"
                     /db_xref="MIM:604373"
ORIGIN      
        1 menkkernls ikvihlqilf tviclfwali fdqgglflvn vfltsrirsf slifllvsfw
       61 efhnpglhga cgevklafer ktckkvaiki iskrkfaigs areadpalnv eteieilkkl
      121 nhpciikikn ffdaedyyiv lelmeggelf dkvvgnkrlk eatcklyfyq mllavqitdf
      181 ghskilgets lmrtlcgtpt ylapevlvsv gtagynravd cwslgvilfi clsgyppfse
      241 hrtqvslkdq itsgkynfip evwaevseka ldlvkkllvv dpkarfttee alrhpwlqde
      301 dmkrkfqdll seenestalp qvlaqpstsr krpregeaeg aettkrpavc aavl
//
LOCUS       XP_047303506             895 aa            linear   PRI 20-MAR-2023
DEFINITION  dystroglycan 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047303506
VERSION     XP_047303506.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447550.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..895
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..895
                     /product="dystroglycan 1 isoform X1"
                     /calculated_mol_wt=97311
     Region          62..163
                     /region_name="Dystroglycan_repeat"
                     /note="Cadherin-like repeat domain of alpha dystroglycan;
                     cd11303"
                     /db_xref="CDD:206636"
     Region          182..304
                     /region_name="a_DG1_N2"
                     /note="Alpha-Dystroglycan N-terminal domain 2; pfam18424"
                     /db_xref="CDD:436491"
     Site            order(199..200,204..205,207..208,211,222..228)
                     /site_type="other"
                     /note="CA-like domain interface [polypeptide binding]"
                     /db_xref="CDD:206765"
     Region          <303..>404
                     /region_name="PRK14971"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237874"
     Region          498..602
                     /region_name="Dystroglycan_repeat"
                     /note="Cadherin-like repeat domain of alpha dystroglycan;
                     cd11303"
                     /db_xref="CDD:206636"
     Region          606..895
                     /region_name="DAG1"
                     /note="Dystroglycan (Dystrophin-associated glycoprotein
                     1); pfam05454"
                     /db_xref="CDD:428478"
     CDS             1..895
                     /gene="DAG1"
                     /gene_synonym="156DAG; A3a; AGRNR; DAG; LGMDR16; MDDGA9;
                     MDDGC7; MDDGC9"
                     /coded_by="XM_047447550.1:421..3108"
                     /db_xref="GeneID:1605"
                     /db_xref="HGNC:HGNC:2666"
                     /db_xref="MIM:128239"
ORIGIN      
        1 mrmsvglsll lplsgrtfll llsvvmaqsh wpsepseavr dwenqleasm hsvlsdlhea
       61 vptvvgipdg tavvgrsfrv tiptdliass gdiikvsaag kealpswlhw dsqshtlegl
      121 pldtdkgvhy isvsatrlga ngshipqtss vfsievyped hselqsvrta spdpgevvss
      181 acaadepvtv ltvildadlt kmtpkqridl lhrmrsfsev elhnmklvpv vnnrlfdmsa
      241 fmagpgnakk vvengallsw klgcslnqns vpdihgveap aregamsaql gypvvgwhia
      301 nkkpplpkrv rrqihatptp vtaigpptta iqeppsrivp tptspaiapp tetmappvrd
      361 pvpgkptvti rtrgaiiqtp tlgpiqptrv seagttvpgq irptmtipgy veptavatpp
      421 ttttkkprvs tpkpatpstd stttttrrpt kkprtprpvp rvttkvsitr letaspptri
      481 rtttsgvprg gepnqrpelk nhidrvdawv gtyfevkips dtfydhedtt tdklkltlkl
      541 reqqlvgeks wvqfnsnsql myglpdsshv gkheyfmhat dkgglsavda feihvhrrpq
      601 gdraparfka kfvgdpalvl ndihkkialv kklafafgdr ncstitlqni trgsivvewt
      661 nntlplepcp keqiaglsrr iaeddgkprp afsnalepdf katsitvtgs gscrhlqfip
      721 vvpprrvpse apptevpdrd peksseddvy lhtvipavvv aailliagii amicyrkkrk
      781 gkltledqat fikkgvpiif adelddskpp psssmplilq eekaplpppe ypnqsvpett
      841 plnqdtmgey tplrdedpna ppyqppppft apmegkgsrp knmtpyrspp pyvpp
//
LOCUS       XP_016861281             425 aa            linear   PRI 20-MAR-2023
DEFINITION  protein mono-ADP-ribosyltransferase PARP15 isoform X9 [Homo
            sapiens].
ACCESSION   XP_016861281
VERSION     XP_016861281.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017005792.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..425
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..425
                     /product="protein mono-ADP-ribosyltransferase PARP15
                     isoform X9"
                     /calculated_mol_wt=47131
     Region          44..210
                     /region_name="Macro_BAL-like"
                     /note="macrodomain, B-aggressive lymphoma (BAL)-like
                     family; cd02903"
                     /db_xref="CDD:394874"
     Site            order(59..61,71..73,79..82,85,154..160,195,199)
                     /site_type="other"
                     /note="ADP-ribose binding site [chemical binding]"
                     /db_xref="CDD:394874"
     Region          303..423
                     /region_name="TCCD_inducible_PARP_like"
                     /note="Poly(ADP-ribose) polymerases catalyse the covalent
                     attachment of ADP-ribose units from NAD+ to itself and to
                     a limited number of other DNA binding proteins, which
                     decreases their affinity for DNA. Poly(ADP-ribose)
                     polymerase is a regulatory component...; cd01439"
                     /db_xref="CDD:238719"
     Site            order(305..309,312,316,320..322,324,337..339,349,406)
                     /site_type="other"
                     /note="nad+ binding pocket [chemical binding]"
                     /db_xref="CDD:238719"
     CDS             1..425
                     /gene="PARP15"
                     /gene_synonym="ARTD7; BAL3; pART7"
                     /coded_by="XM_017005792.3:2131..3408"
                     /db_xref="GeneID:165631"
                     /db_xref="HGNC:HGNC:26876"
                     /db_xref="MIM:612066"
ORIGIN      
        1 mkhtafldef tnwsrinpnk aripmagdtq gvvgtvskpc ftayemkiga itfqvatgdi
       61 ateqvdvivn startfnrks gvsrailega gqavesecav laaqphrdfi itpggclkck
      121 iiihvpggkd vrktvtsvle eceqrkytsv slpaigtgna gknpitvadn iidaivdfss
      181 qhstpslktv kvvifqpell nifydsmkkr dlsaslnfqs tfsmttcnlp ehwtdmnhql
      241 fcmvqlepgq seyntikdkf trtcssyaie kieriqnafl wqsyqvkkrq mdikndhknn
      301 erllfhgtda dsvpyvnqhg fnrscagkna vsygkgtyfa vdasysakdt yskpdsngrk
      361 hmyvvrvltg vftkgraglv tpppknphnp tdlfdsvtnn trspklfvvf fdnqaypeyl
      421 itfta
//
LOCUS       XP_011510837             403 aa            linear   PRI 20-MAR-2023
DEFINITION  ADP-ribosylation factor-like protein 13B isoform X3 [Homo sapiens].
ACCESSION   XP_011510837
VERSION     XP_011510837.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011512535.3
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 20% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..403
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..403
                     /product="ADP-ribosylation factor-like protein 13B isoform
                     X3"
                     /calculated_mol_wt=45485
     Region          1..164
                     /region_name="Arl2l1_Arl13_like"
                     /note="Arl2-like protein 1 (Arl2l1) and Arl13; cd04161"
                     /db_xref="CDD:133361"
     Site            3..10
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:133361"
     Site            order(5..11,26..27,49,105..106,108,141..143)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:133361"
     Site            order(5..6,10,14,26..33,55,60)
                     /site_type="other"
                     /note="putative GAP interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:133361"
     Site            order(15..18,20..30)
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:133361"
     Site            order(27..31,36,46,50,56,58..60)
                     /site_type="other"
                     /note="putative GEF interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:133361"
     Site            27
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:133361"
     Site            order(28..35,45,56,59..60)
                     /site_type="active"
                     /note="putative effector interaction site [active]"
                     /db_xref="CDD:133361"
     Site            order(31..37,40..45)
                     /site_type="active"
                     /note="interswitch region [active]"
                     /db_xref="CDD:133361"
     Site            46..63
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:133361"
     Site            46..49
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:133361"
     Site            105..108
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:133361"
     Site            141..143
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:133361"
     Region          <174..216
                     /region_name="DUF1682"
                     /note="Protein of unknown function (DUF1682); pfam07946"
                     /db_xref="CDD:429750"
     CDS             1..403
                     /gene="ARL13B"
                     /gene_synonym="ARL2L1; JBTS8"
                     /coded_by="XM_011512535.3:385..1596"
                     /db_xref="GeneID:200894"
                     /db_xref="HGNC:HGNC:25419"
                     /db_xref="MIM:608922"
ORIGIN      
        1 mvgldnagkt atakgiqgey pedvaptvgf skinlrqgkf evtifdlggg irirgiwkny
       61 yaesygvifv vdssdeerme etkeamseml rhprisgkpi lvlankqdke galgeadvie
      121 clsleklvne hkclcqiepc saisgygkki dksikkglyw llhviardfd alneriqket
      181 teqraleeqe kqeraervrk lreerkqneq eqaeldgtsg laeldpeptn pfqpiasvii
      241 enegklerek knqkmekdsd gchlkhkmeh eqietqgqvn hngqknnefg lvenykealt
      301 qqlknedetd rpslesangk kktkklrmkr nhrveplnid dcapesptpp pppppvgwgt
      361 pkvtrlpkle plgethhndf yrkplpplav pqrpnsdahd vis
//
LOCUS       XP_006713092             666 aa            linear   PRI 20-MAR-2023
DEFINITION  trafficking kinesin-binding protein 1 isoform X12 [Homo sapiens].
ACCESSION   XP_006713092
VERSION     XP_006713092.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006713029.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..666
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..666
                     /product="trafficking kinesin-binding protein 1 isoform
                     X12"
                     /calculated_mol_wt=75367
     Region          48..353
                     /region_name="HAP1_N"
                     /note="HAP1 N-terminal conserved region; pfam04849"
                     /db_xref="CDD:428156"
     Region          414..583
                     /region_name="Milton"
                     /note="Kinesin associated protein; pfam12448"
                     /db_xref="CDD:432560"
     CDS             1..666
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /coded_by="XM_006713029.3:55..2055"
                     /db_xref="GeneID:22906"
                     /db_xref="HGNC:HGNC:29947"
                     /db_xref="MIM:608112"
ORIGIN      
        1 malvfqfgqp vraqplpglc hgklirtnac dvcnstdlpe veiislleeq lphyklradt
       61 iygydhddwl htplispdan idltteqiee tlkyfllcae rvgqmtktyn didavtrlle
      121 ekerdlelaa rigqsllkkn ktlternell eeqvehiree vsqlrhelsm kdellqfyts
      181 aaeesepesv cstplkrnes sssvqnyfhl dslqkklkdl eeenvvlrse asqlktetit
      241 yeekeqqlvn dcvkelrdan vqiasiseel akktedaarq qeeithllsq ivdlqkkaka
      301 caveneelvq hlgaakdaqr qltaelrele dkyaecmeml heaqeelknl rnktmpntts
      361 rryhslglfp mdslaaeieg tmrkelqlee aespdithqk rvfetvrnin qvvkqrsltp
      421 spmnipgsnq ssamnsllss cvstprssfy gsdignvvld nktnsiilet eaadlgnder
      481 skkpgtpgtp gshdletalr rlslrrenyl serrffeeeq erklqelaek gelrsgsltp
      541 tesimslgth srfseftgfs gmsfssrsyl peklqivkpl egsatlhhwq qlaqphlggi
      601 ldprpgvvtk gfrtldvdld evyclndfee ddtgdhislp rlatstpvqh petsgrevqq
      661 hpgsqw
//
LOCUS       XP_016861560             778 aa            linear   PRI 20-MAR-2023
DEFINITION  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein
            2 isoform X3 [Homo sapiens].
ACCESSION   XP_016861560
VERSION     XP_016861560.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017006071.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..778
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..778
                     /product="inactive N-acetylated-alpha-linked acidic
                     dipeptidase-like protein 2 isoform X3"
                     /calculated_mol_wt=86765
     Region          241..393
                     /region_name="PA"
                     /note="Protease-associated (PA) domain. The PA domain is
                     an insert domain in a diverse fraction of proteases. The
                     significance of the PA domain to many of the proteins in
                     which it is inserted is undetermined. It may be a
                     protein-protein interaction domain. At...; cl28883"
                     /db_xref="CDD:333703"
     Site            327..329
                     /site_type="other"
                     /note="PA/protease or protease-like domain interface
                     [polypeptide binding]"
                     /db_xref="CDD:238300"
     Region          410..631
                     /region_name="M28_PMSA_TfR_like"
                     /note="M28 Zn-peptidase Transferrin Receptor-like family;
                     cd03874"
                     /db_xref="CDD:349871"
     Site            order(425..426,428,473,475,494..495,497,499..502,628)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:349871"
     Site            order(434,445,482..483,511,590)
                     /site_type="other"
                     /note="putative metal binding site [ion binding]"
                     /db_xref="CDD:349871"
     Region          651..>717
                     /region_name="TFR_dimer"
                     /note="Transferrin receptor-like dimerization domain;
                     pfam04253"
                     /db_xref="CDD:427820"
     CDS             1..778
                     /gene="NAALADL2"
                     /coded_by="XM_017006071.2:734..3070"
                     /db_xref="GeneID:254827"
                     /db_xref="HGNC:HGNC:23219"
                     /db_xref="MIM:608806"
ORIGIN      
        1 mayqkvhadq rapghsqyld nddlqatald lewdmekele esgfdqfqld gaenqnlghs
       61 etidlnldsi qpatspkgrf qrlqeesdyi thytrsapks nrcnfchvlk ilctatilfi
      121 fgiligyyvh tncpsdapss gtvdpqlyqe ilktiqaedi kksfrnlvql ykneddmeis
      181 kkiktqwtsl gledvqfvny svlldlpgps pstvtlsssg qcfhpngqpc seearkdssq
      241 dllysyaays akgtlkaevi dvsygmaddl krirkiknvt nqiallklgk lpllyklssl
      301 ekagfggvll yidpcdlpkt vnpshdtfmv slnpggdpst pgypsvdesf rqsrsnltsl
      361 lvqpisaplv aklisspkar tkneacssle lpnneirvvs mqvqtvtklk tvtnvvgfvm
      421 gltspdryii vgshhhtahs yngqewasst aiitafiral mskvkrgwrp drtivfcswg
      481 gtafgnigsy ewgedfkkvl qknvvayisl hspirgnssl ypvaspslqq lvveknnfnc
      541 trraqcpetn issiqiqgda dyfinhlgvp ivqfayedik tlegpsflse arfstratki
      601 eemdpsfnlh etitklsgev ilqianepvl pfnaldiale vqnnlkgdqp nthqllamal
      661 rlresaelfq sdemrpandp kerapirirm lndilqdmek sflvkqappg fyrnilyhld
      721 ektsrfsili eawehckpla snetlqeals evlnsinsaq vyfkagldvf ksvldgkn
//
LOCUS       XP_047272278              73 aa            linear   PRI 20-MAR-2023
DEFINITION  homeodomain-only protein isoform X4 [Homo sapiens].
ACCESSION   XP_047272278
VERSION     XP_047272278.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416322.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..73
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..73
                     /product="homeodomain-only protein isoform X4"
                     /calculated_mol_wt=8129
     Region          10..62
                     /region_name="homeodomain"
                     /note="Homeodomain; DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; cd00086"
                     /db_xref="CDD:238039"
     CDS             1..73
                     /gene="HOPX"
                     /gene_synonym="CAMEO; HOD; HOP; LAGY; NECC1; OB1; SMAP31;
                     TOTO"
                     /coded_by="XM_047416322.1:174..395"
                     /db_xref="GeneID:84525"
                     /db_xref="HGNC:HGNC:24961"
                     /db_xref="MIM:607275"
ORIGIN      
        1 msaetasgpt edqveileyn fnkvdkhpds ttlcliaaea glseeetqkw fkqrlakwrr
       61 seglpsecrs vtd
//
LOCUS       XP_011530718             516 aa            linear   PRI 20-MAR-2023
DEFINITION  bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3
            isoform X5 [Homo sapiens].
ACCESSION   XP_011530718
VERSION     XP_011530718.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011532416.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..516
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..516
                     /product="bifunctional heparan sulfate
                     N-deacetylase/N-sulfotransferase 3 isoform X5"
                     /calculated_mol_wt=59102
     Region          76..506
                     /region_name="HSNSD"
                     /note="heparan sulfate-N-deacetylase; pfam12062"
                     /db_xref="CDD:432299"
     CDS             1..516
                     /gene="NDST3"
                     /gene_synonym="HSST3"
                     /coded_by="XM_011532416.4:263..1813"
                     /db_xref="GeneID:9348"
                     /db_xref="HGNC:HGNC:7682"
                     /db_xref="MIM:603950"
ORIGIN      
        1 msfimklhrh fqrtvillat fcmvsiiisa yylysgykqe nelsetasev dcgdlqhlpy
       61 qlmevkamkl fdasrtdptv lvfvesqyss lgqdiimile ssrfqyhiei apgkgdlpvl
      121 idkmkgkyil iiyenilkyi nmdswnrsll dkycveygvg vigfhktsek svqsfqlkgf
      181 pfsiygnlav kdccinphsp lirvtksskl ekgslpgtdw tvfqinhsay qpvifakvkt
      241 penlspsisk gafyatiihd lglhdgiqrv lfgnnlnfwl hklifidais flsgkrltls
      301 ldryilvdid difvgkegtr mntndvkall dtqnllraqi tnftfnlgfs gkfyhtgtee
      361 edegddcllg svdefwwfph mwshmqphlf hnesslveqm ilnkkfaleh giptdmgyav
      421 aphhsgvypv hvqlyeawkk vwnikitste eyphlkpary rrgfihknim vlprqtcglf
      481 thtifykeyp ggpkeldksi qggelfftvv lnpkmr
//
LOCUS       XP_011541935             851 aa            linear   PRI 20-MAR-2023
DEFINITION  protein mono-ADP-ribosyltransferase PARP8 isoform X4 [Homo
            sapiens].
ACCESSION   XP_011541935
VERSION     XP_011541935.3
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011543633.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_011541935.2.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..851
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..851
                     /product="protein mono-ADP-ribosyltransferase PARP8
                     isoform X4"
                     /calculated_mol_wt=95435
     Region          <523..622
                     /region_name="ADP_ribosyl"
                     /note="ADP_ribosylating enzymes catalyze the transfer of
                     ADP_ribose from NAD+ to substrates. Bacterial toxins are
                     cytoplasmic and catalyze the transfer of a single
                     ADP_ribose unit to eukaryotic elongation factor 2, halting
                     protein synthesis and killing the cell; cd01341"
                     /db_xref="CDD:238651"
     Region          735..>833
                     /region_name="ADP_ribosyl"
                     /note="ADP_ribosylating enzymes catalyze the transfer of
                     ADP_ribose from NAD+ to substrates. Bacterial toxins are
                     cytoplasmic and catalyze the transfer of a single
                     ADP_ribose unit to eukaryotic elongation factor 2, halting
                     protein synthesis and killing the cell; cd01341"
                     /db_xref="CDD:238651"
     Site            order(737..741,744,748,752..754,756,772..774,784)
                     /site_type="other"
                     /note="nad+ binding pocket [chemical binding]"
                     /db_xref="CDD:238651"
     CDS             1..851
                     /gene="PARP8"
                     /gene_synonym="ARTD16; pART16"
                     /coded_by="XM_011543633.4:250..2805"
                     /db_xref="GeneID:79668"
                     /db_xref="HGNC:HGNC:26124"
ORIGIN      
        1 mqsrpppppp ppppppplls pritsettsp sapasargiy lmgmcsrqer iqkdidvviq
       61 ksraekdclf adfrysdstf tftyvggprs vsysvhvsed ypdntyvsss endedvlvtt
      121 epipvifhri atelrktndi ncclsikskl qkengeesrq nstveedseg dndseefyyg
      181 gqvnydgelh khpqleadls avreiygpha vslreygaid dvdidlhidv sfldeeiava
      241 wevirtepii vrlhcsltqy lngpvptvdv fqistkerfg lghqlkkimq tfvtqqwkqs
      301 keksnclhnk klsekkvksp lhlfstlrrs psypppgcgk sksklkseqd giskthkllr
      361 rtcsstvktd dvcvtkshrt fgrslssdpr aeqamtaiks hkllnrpcpa avkseecltl
      421 kshrlltrsc sgdprcehnt nlkphkllsr syssnlrmee lyglknhkll sksyssapks
      481 sktelfkepn aegrrlslts gligiltpss ssssqlapng akcipvrdrg flvqtiefae
      541 qripvlneyc vvcdephvfq ngpmlrptvc erelcvfafq tlgvmneaad eiatgaqvvd
      601 llvsmcrsal esprkvvife pypsvvdpnd pqmlafnprk knydrvmkal dsitsiremt
      661 qapyleikkq mdkqdplahp llqwvissnr shivklpvnr qlkfmhtphq flllssppak
      721 esnfraakkl fgstfafhgs hienwhsilr nglvvasntr lqlhgamygs giylspmssi
      781 sfgysgmnkk qkvsakdepa ssskssntsq sqkkgqqsqf lqsrnlkcia lcedfnekry
      841 iksewtripl e
//
LOCUS       XP_047274737             186 aa            linear   PRI 20-MAR-2023
DEFINITION  myoD family inhibitor isoform X3 [Homo sapiens].
ACCESSION   XP_047274737
VERSION     XP_047274737.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418781.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..186
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..186
                     /product="myoD family inhibitor isoform X3"
                     /calculated_mol_wt=18996
     Region          6..186
                     /region_name="MDFI"
                     /note="MyoD family inhibitor; pfam15316"
                     /db_xref="CDD:434626"
     CDS             1..186
                     /gene="MDFI"
                     /gene_synonym="I-MF; I-mfa"
                     /coded_by="XM_047418781.1:336..896"
                     /db_xref="GeneID:4188"
                     /db_xref="HGNC:HGNC:6967"
                     /db_xref="MIM:604971"
ORIGIN      
        1 mpqgngpgip qgldstdldv pteavtcqpq gnplgctpll pndsghpsel ggtrragnga
       61 lggpkahrkl qthpslasqg skksksssks ttsqiplqaq edccvhcils clfcefltlc
      121 nivldcatcg scssedsclc ccccgsgeca dcdlpcdldc gildaccesa dcleicmecc
      181 glcfss
//
LOCUS       XP_047275878            4530 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-binding cassette sub-family A member 13 isoform X12 [Homo
            sapiens].
ACCESSION   XP_047275878
VERSION     XP_047275878.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419922.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4530
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..4530
                     /product="ATP-binding cassette sub-family A member 13
                     isoform X12"
                     /calculated_mol_wt=516270
     Region          7..>82
                     /region_name="rim_protein"
                     /note="retinal-specific rim ABC transporter; TIGR01257"
                     /db_xref="CDD:130324"
     Region          3068..>4530
                     /region_name="rim_protein"
                     /note="retinal-specific rim ABC transporter; TIGR01257"
                     /db_xref="CDD:130324"
     CDS             1..4530
                     /gene="ABCA13"
                     /coded_by="XM_047419922.1:27..13619"
                     /db_xref="GeneID:154664"
                     /db_xref="HGNC:HGNC:14638"
                     /db_xref="MIM:607807"
ORIGIN      
        1 mghagcqfka llwknwlcrl rnpvlflaef fwpcilfvil tvlrfqeppr yrdicylqpr
       61 dlpscgvipf vqsllcntgs rcrnfsyegs mehhfrlsrf qtaadpkkvn nlaflkeiqd
      121 laeeihgmmd kaknlkrlwv ersntpdssy gssfftmdln kteevilkle slhqqphiwd
      181 fllllprlht shdhvedgmd vavnllqtil nslisledld wlplnqtfsq vselvlnvti
      241 stltflqqhg vavtepvyhl smqnivwdpq kvqydlksqf gfddlhteqi lnssaelkei
      301 ptdtslekmv csvlsstsed eaekwghvgg chpkwseakn ylvhavswlr vyqqvfvqwq
      361 qgsllqktlt gmghslealr nqfeeeskpw kvvealhtal lllndslsad gpkdnhtfpk
      421 ilqhlwklqs llqnlpqwpa lkrflqldga lrnaiaqnlh fvqevlicle tsandfkwfe
      481 lnqlklekdv ffwelkqmla knavcpngrf sekevflppg nssiwgglqg llcycnsset
      541 svlnkllgsv edadrilqev itwhknmsvl ipeeyldwqe lemqlseasl sctrlflllg
      601 adpspendvf ssdckhqlvs tvifhtlekt qffleqayyw kafkkfirkt cevaqyvnmq
      661 esfqnrllaf peespcfeen mdwkmisdny fqflnnllks ptasisraln ftkhllmmek
      721 klhtledeqm nfllsfveff eklllpnlfd ssivpsfhsl psltedilni sslwtnhlks
      781 lkrdpsatda qkllefgnev iwkmqtlgsh wirkepknll rfielilfei npkllelway
      841 giskgkrakl enfftllnfs vpeneilsts fnfsqlfhsd wpkspamnid fvrlseaiit
      901 slhefgfleq eqisealntv yairnasdlf salsepqkqe vdkilthihl nvfqdkdsal
      961 llqiyssfyr yiyellniqs rgssltfltq iskhildiik qfnfqniska faflfktaev
     1021 lggisnvsyc qqllsifnfl elqaqsfmst egqeleviht tltglkqlli idedfrislf
     1081 qymsqffnss vedlldnkcl isdnkhissv nystseessf vfplaqifsn lsanvsvfnk
     1141 fmsihctvsw lqmwteiwet isqlfkfdmn vftslhhgft qlldeleddv kvskscqgil
     1201 pthnvarlil nlfknvtqan dfhnwedfld lrdflvalgn alvsvkklnl eqvekslftm
     1261 eaalhqlktf pfnestsref lnsllevfie fsstseyivr nldsindfls nnltnygekf
     1321 eniitelrea ivflrnvshd rdlfscadif qnvteciled gflyvntsqr mlrildtlns
     1381 tfssentiss lkgcivwldv inhlyllsns sfsqghlqni lgnfrdienk mnsilkivtw
     1441 vlnikkplcs sngshincvn iylkdvtdfl nivlttvfek ekkpkfeill allndstkqv
     1501 rmsinnlttd fdfasqsnwr yftelilrpi emsdeipnqf qniwlhlitl gkefqklvkg
     1561 iyfnilenns ssktenllni fatspkekdv nsvgnsiyhl asylafslsh dlqnspkiii
     1621 speimkatgl giqlirdvfn slmpvvhhts pqnagymqal kkvtsvmrtl kkadidllvd
     1681 qleqvsvnlm dffknissvg tgnlvvnllv glmekfadss hswnvnhllq lsrlfpkdvv
     1741 davidvyyvl phavrllqgv pgkniteglk dvysftllhg itisnitked faivikilld
     1801 tielvsdkpd iisealacfp vvwcwnhtns gfrqnskidp cnvhglmsss fygkvasild
     1861 hfhlspqged spcsnessrm eitrkvvcii helvdwnsil lelsevfhvn islvktvqkf
     1921 whkilpfvpp sinqtrdsis elcpsgsikq valqiieklk nvnftkvtsg enildklssl
     1981 nkilninedt etsvqniiss nlertvqlis edwsleksth nllslfmmlq nanvtgssle
     2041 alssfiekse tpynfeelwp kfqqimkdlt qdfrirhlls emnkgiksin smalqkitlq
     2101 fahfleilds pslktleiie dfllvtknwl qeyanedysr mietlfipvt nesstedial
     2161 lakaiatfwg slknisragn fdvaflthll nqeqltnfsv vqllfenili nlinnlagns
     2221 qeaawnlndt dlqimnfinl ilnhmqsets rktvlslrsi vdfteqflkt ffslflkeds
     2281 enkislllky fhkdviaems fvpkdkilei lkldqfltlm iqdrlmnifs slketiyhlm
     2341 kssfildnge fyfdthqglk fmqdlfnall retsmknkte nnidfftvvs qlffhvnkse
     2401 dlfklnqdlg salhlvrecs temarlldti lhspnkdfya lyptlqevil anltdllffi
     2461 nnsfplrnra tleitkrlvg aisraseesh vlkpllemsg tlvmllndsa dlrdlatsmd
     2521 sivkllklvk kvsgkmstvf kthfisntkd svkffdtlys imqqsvqnlv keiatlkkid
     2581 hftfekindl lvpfldlafe migvepyiss nsdifsmsps ilsymnqskd fsdileeiae
     2641 fltsvkmnle dmrslavafn netqtfsmds vnlreeilgc lvpinnitnq mdflypnpis
     2701 thsgpqdikw eiihevipfl dkilsqnste igsflkmvic ltlealwknl kkdnwnvsnv
     2761 lmtftqhpnn llktietvle assgiksdye gdlnkslyfd tplsqnithh qlekaihnvl
     2821 srialwrkgl lfnnsewits trtlfqplfe ifikattgkn vtsekeertk kemidfpysf
     2881 kpffclekyl gglfvltkyw qqipltdqsv veicevfqqt vkpseameml qkvkmmvvrv
     2941 ltivaenpsw tkdilcatls ckqngirhli lsaiqgvtla qdhfqeieki wsspnqlnce
     3001 slsknlsstl esfksslena tgqdctsqpr letvqqhlym laksleetws sgnpimtfls
     3061 nftvtedvki kdlmknitkl teelrssiqi snetihsile anishskvlf saltvalsgk
     3121 cdqeilhlll tfpkgekswi aaeelcslpg skvyslivll srnldvrafi yktlmpsean
     3181 gllnslldiv sslsallaka qhvfeylpef lhtfkitall etldfqqvsq nvqarssafg
     3241 sfqfvmkmvc kdqasflsds nmfinlprvk elleddkekf nipedstpfc lklyqeilql
     3301 pngalvwtfl kpilhgkily tpntpeinkv iqkanytfyi vdklktlset llemsslfqr
     3361 sgsgqmfnql qealrnkfvr nfvenqlhid vdklteklqt ygglldemfn hagagrfrfl
     3421 gsilvnlssc valnrfqalq svdiletkah ellqqnsfla siifsnslfd knfrsesvkl
     3481 pphvsytirt nvlysvrtdv vknpswkfhp qnlpadgfky nyvfaplqdm ieraiilvqt
     3541 gqealepaaq tqaapypcht sdlflnnvgf ffplimmltw mvsvasmvrk lvyeqeiqie
     3601 eymrmmgvhp vihflawfle nmavltissa tlaivlktsg ifahsntfiv flflldfgms
     3661 vvmlsyllsa ffsqantaal ctslvymisf lpyivllvlh nqlsfvnqtf lcllsttafg
     3721 qgvffitfle gqetgiqwnn myqaleqggm tfgwvcwmil fdsslyflcg wylsnlipgt
     3781 fglrkpwyfp ftasywksvg flvekrqyfl ssslfffnen fdnkgsslqn regelegsap
     3841 gvtlvsvtke yeghkavvqd lsltfyrdqi tallgtngag kttiismltg lhpptsgtii
     3901 ingknlqtdl srvrmelgvc pqqdilldnl tvrehlllfa sikapqwtkk elhqqvnqtl
     3961 qdvdltqhqh kqtralsggl krklslgiaf mgmsrtvvld eptsgvdpcs rhslwdillk
     4021 yregrtiift thhldeaeal sdrvavlqhg rlrccgppfc lkeaygqglr ltltrqpsvl
     4081 eahdlkdmac vtslikiyip qaflkdssgs eltytipkdt dkaclkglfq aldenlhqlh
     4141 ltgygisdtt leevflmllq dsnkkshial gteselqnhr ptghlsgycg slarpatvqg
     4201 vqllraqvaa ilarrlrrtl ragkstladl llpvlfvala mglfmvrpla teypplrltp
     4261 ghyqraetyf fssggdnldl trvllrkfrd qdlpcadlnp rqknsscwrt dpfshpefqd
     4321 scgclkcpnr sasapyltnh lghtllnlsg fnmeeyllap sekprlggws fglkipseag
     4381 gangniskpp tlakvwynqk gfhslpsyln hlnnlilwqh lpptvdwrqy gitlyshpyg
     4441 gallnedkil esirqcgval civlgfsils asigssvlfy lvsvclcvav ivafqltaft
     4501 frknlaatal llslfgyvmr naaaelrfvf
//
LOCUS       XP_047279797             315 aa            linear   PRI 20-MAR-2023
DEFINITION  5,6-dihydroxyindole-2-carboxylic acid oxidase isoform X1 [Homo
            sapiens].
ACCESSION   XP_047279797
VERSION     XP_047279797.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423841.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..315
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..315
                     /product="5,6-dihydroxyindole-2-carboxylic acid oxidase
                     isoform X1"
                     /calculated_mol_wt=36113
     Region          183..>236
                     /region_name="Tyrosinase"
                     /note="Common central domain of tyrosinase; pfam00264"
                     /db_xref="CDD:425566"
     CDS             1..315
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /coded_by="XM_047423841.1:180..1127"
                     /db_xref="GeneID:7306"
                     /db_xref="HGNC:HGNC:12450"
                     /db_xref="MIM:115501"
ORIGIN      
        1 msapkllslg ciffplllfq qaraqfprqc atvealrsgm ccpdlspvsg pgtdrcgsss
       61 grgrceavta dsrphspqyp hdgrddrevw plrffnrtch cngnfsghnc gtcrpgwrga
      121 acdqrvlivr rnlldlskee knhfvraldm akrtthplfv iatrrseeil gpdgntpqfe
      181 nisiynyfvw thyysvkktf lgvgqesfge vdfshegpaf ltwhryhllr lekdmqaprm
      241 gqlgeiqlem wpdqwcnvfl nhrmslsawk lvyltrllfi ptlqtvsetq wkvtvtpres
      301 mtllfevfti wliys
//
LOCUS       XP_047280214            2115 aa            linear   PRI 20-MAR-2023
DEFINITION  protein transport protein Sec16A isoform X23 [Homo sapiens].
ACCESSION   XP_047280214
VERSION     XP_047280214.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424258.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2115
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..2115
                     /product="protein transport protein Sec16A isoform X23"
                     /calculated_mol_wt=226545
     Region          <4..298
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1260..1622
                     /region_name="ACE1-Sec16-like"
                     /note="Ancestral coatomer element 1 (ACE1) of COPII coat
                     complex assembly protein Sec16; cd09233"
                     /db_xref="CDD:187750"
     Site            order(1379..1380,1382..1383,1385..1389,1391,1393,1403,
                     1405,1407..1408,1410..1411,1415,1421,1428,1437,1442,1445,
                     1473..1474)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:187750"
     Site            order(1545,1567..1568,1570..1571,1574..1575,1578,
                     1605..1606,1609..1610,1613,1617)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:187750"
     CDS             1..2115
                     /gene="SEC16A"
                     /gene_synonym="KIAA0310; p250; SEC16L"
                     /coded_by="XM_047424258.1:173..6520"
                     /db_xref="GeneID:9919"
                     /db_xref="HGNC:HGNC:29006"
                     /db_xref="MIM:612854"
ORIGIN      
        1 mqpppqtvps gmagpppagn prsvfwassp yrrrannnaa vapttcplqp vtdpfafsrq
       61 alqstplgss skssppvlqg papagfsqhp gllvphthar dssqgpcepl pgpltqprah
      121 aspfsgaltp sappgpemnr saevgpssep evqtlpylph yipgvdpets hgghphgnmp
      181 gldrplsrqn phdgvvtpaa spslpqpglq mpgqwgpvqg gpqpsgqhrs pcpegpvpsg
      241 vpcatsvphf ptpsilhqgp gheqhsplva ppaalpsdgr devshlqsgs hlannsdpes
      301 tfrqnprivn hwaspelrqn pgvknehrpa salvnplarg dspenrthhp lgagagsgca
      361 pleadsgasg alamffqgge teneenlsse kaglsgqadf ddfcsspglg rppapthvga
      421 gslcqallpg psneaagdvw gdtastgvpd asgsqyenve nlefvqnqev lpseplnldp
      481 sspsdqfryg plpgpavprh gavchtgapd atlhtvhpds vsssyssrsh grlsgsarpq
      541 elvgtfiqqe vgkpedeasg sffkqidssp vggetdettv sqnyrgsvsq pstpsppkpt
      601 gifqtsanss fepvkshlvg vkpfeadran vvgevretcv rqkqcrpaaa lpdaspgnle
      661 qppdnmetlc apqvcplpln stteavhmlp hagappldtv ypapekrpsa rtqgpvkces
      721 pattlwaqse lpdfggnvll apaapalyvc akpqppvvqp peeamsgqqs rnpssaapvq
      781 srggigasen lenppkmgee ealqsqvtkd aqgqpglera qqelvppqqq asppqlpkam
      841 fselsnpesl paqgqaqnsa qspaslvlvd agqqlpprpp qsssvslvss gsgqaavpse
      901 qpwpqpvpal apgpppqdla ayyyyrplyd ayqpqyslpy ppepgaasly yqdvyslyep
      961 ryrpydgaas ayaqnyrype perpssrash sserppprqg ypegyyssks gwssqsdyya
     1021 syyssqydyg dpghwdryhy sarvrdprty drrywcdaey dayrrehsaf gdrpekrdnn
     1081 wrydprftgs fdddpdphrd pygeevdrrs vhsehsarsl hsahslasrr sslsshshqs
     1141 qiyrshnvaa gsyeaplppg sfhgdfaygt yrsnfssgpg fpeygypadt vwpameqvss
     1201 rptspekfsv phvcarfgpg gqlikvipnl psegqpalve vhsmeallqh tseqeemraf
     1261 pgplakddth kvdvinfaqn kamkclqnen lidkesasll wnfivllcrq ngtvvgtdia
     1321 elllrdhrtv wlpgkspnea nlidftneav eqveeeesge aqlsfltggp aaaasslere
     1381 terfrellly grkkdalesa mknglwghal llaskmdsrt harvmtrfan slpindplqt
     1441 vyqlmsgrmp aastccgdek wgdwrphlam vlsnlnnnmd vesrtmatmg dtlasrglld
     1501 aahfcylmaq agfgvytkkt tklvligsnh slpflkfatn eaiqrteaye yaqslgaetc
     1561 plpsfqvfkf iyscrlaemg latqafhyce aiaksiltqp hlyspvlisq lvqmasqlrl
     1621 fdpqlkekpe eeslaaptwl vhlqqverqi kegagvwhqd galpqqcpgt pssemeqldr
     1681 pglsqpgalg ianpllavpa pspehsspsv rllpsapqtl pdgplaspar vpmfpvplpp
     1741 gplepgpgcv tpgpalgfle psgpglppgv pplqerrhll qearspdpgi vpqeapvgns
     1801 lselseenfd gkfanltpsr tvpdseappg wdradsgptq pplslspape tkrpgqaakk
     1861 etkepkkges wffrwlpgkk kteaylpddk nksivwdekk nqwvnlnepe eekkappppp
     1921 tsmpktvqaa ppalpgppga pvnmysrraa gtraryvdvl npsgtqrsep alapadfvap
     1981 laplpipsnl fvptpdaeep qlpdgtgreg paaarglanp epapepkvls saaslpgsel
     2041 pssrpegsqg gelsrcssms slsrevsqhf nqapgdlpaa ggppsgampf ynpaqlaqal
     2101 rgsksgclhw pavcn
//
LOCUS       XP_016885419             399 aa            linear   PRI 20-MAR-2023
DEFINITION  glycogenin-2 isoform X6 [Homo sapiens].
ACCESSION   XP_016885419
VERSION     XP_016885419.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029930.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..399
                     /product="glycogenin-2 isoform X6"
                     /calculated_mol_wt=44215
     Region          6..257
                     /region_name="GT8_Glycogenin"
                     /note="Glycogenin belongs the GT 8 family and initiates
                     the biosynthesis of glycogen; cd02537"
                     /db_xref="CDD:133018"
     Site            order(84..85,88,102,104..106,127,135..137,165..166,
                     193..194,214,216..217,220)
                     /site_type="active"
                     /note="substrate binding site [active]"
                     /db_xref="CDD:133018"
     Site            order(104,106,214)
                     /site_type="active"
                     /note="Manganese binding site [active]"
                     /db_xref="CDD:133018"
     Site            order(126..127,166,184,186..187,191,195)
                     /site_type="active"
                     /note="dimer interface [active]"
                     /db_xref="CDD:133018"
     CDS             1..399
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /coded_by="XM_017029930.2:175..1374"
                     /db_xref="GeneID:8908"
                     /db_xref="HGNC:HGNC:4700"
                     /db_xref="MIM:300198"
ORIGIN      
        1 msvtdqafvt latndiycqg alvlgqslrr hrltrklvvl itpqvssllr vilskvfdev
       61 ievnlidsad yihlaflkrp elgltltklh cwtlthyskc vfldadtlvl snvdelfdrg
      121 efsaapdpgw pdcfnsgvfv fqpslhthkl llqhamehgs fdgadqglln sffrnwsttd
      181 ihkhlpfiyn lssntmytys pafkqfgssa kvvhflgsmk pwnykynpqs gsvleqgsas
      241 ssqhqaaflh lwwtvyqnnv lplyksvqag earaspghtl chsdvggpca dsasgvgepc
      301 enstpsagvp cansplgsnq paqglpeptq ivdetlslpe grrsedvdla vsvsqisiee
      361 kvkelspeee rrkweegrid ymgkdafari qekldrflq
//
LOCUS       XP_054184972            2702 aa            linear   PRI 20-MAR-2023
DEFINITION  protein unc-79 homolog isoform X5 [Homo sapiens].
ACCESSION   XP_054184972
VERSION     XP_054184972.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328997.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187601.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2702
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12-32.13"
     Protein         1..2702
                     /product="protein unc-79 homolog isoform X5"
                     /calculated_mol_wt=302547
     CDS             1..2702
                     /gene="UNC79"
                     /gene_synonym="KIAA1409"
                     /coded_by="XM_054328997.1:3540..11648"
                     /db_xref="GeneID:57578"
                     /db_xref="HGNC:HGNC:19966"
                     /db_xref="MIM:616884"
ORIGIN      
        1 mdsvensvee etretliima pwdlqrgmtr tgsfttarsk vrsgmwtmlv tpvaskiryl
       61 qeyhnrvlhn iypvpsgtdi antlkyfsqt llsilsrtgk kenqdasnlt vpmtmclfpv
      121 pfpltpslrp qvssinptvt rsllysvlrd apsergpqsr daqlsdypsl dyqglyvtlv
      181 tlldlvpllq hgqhdlgqsi fytttcllpf lnddilstlp ytmistlatf ppflhkdiie
      241 ylstsflpma ilgssrregv pahvnlsass mlmiamqyts npvyhcqlle clmkykqevw
      301 kdllyviayg psqvkppavq mlfhywpnlk ppgaiseyrg lqytawnpih cqhiechnai
      361 nkpavkmcid pslsvalgdk ppplylceec seriagdhse wlidvllpqa eisaicqkkn
      421 csshvrravv tcfsagccgr hgnrpvryck rchsnhhsne vgaaaethly qtspppintr
      481 ecgaeelvca veavisllke aefhaeqreh elnrrrqlgl ssshhsldna dfdnkdddkh
      541 dqrllsqfgi wflvslctps entpteslar lvamvfqwfh staymmddev gslveklkpq
      601 fvtkwlktvc dvrfdvmvmc llpkpmefar vggywdkscs tvtqlkegln rilclipynv
      661 inqsvwecim pewleairte vpdnqlkefr evlskmfdie lcplpfsmee mfgfiscrft
      721 gypssvqeqa llwlhvlsel dimvplqlli smfsdgvnsv kelanqrksr vselagnlas
      781 rrvsvasdpg rrvqhnmlsp fhspfqspfr splrspfrsp fknfghpggr tidfdcedde
      841 mnlncfilmf dlllkqmelq ddgitmgleh slskdiisii nnvfqapwgg shtcqkdeka
      901 iecnlcqssi lcyqlacell erlapkeesr lveptdsled sllssrpefi igpegeeeen
      961 paskhgenpg nctepvehaa vkndterkfc yqqlpvtlrl iytifqemak feepdilfnm
     1021 lnclkilclh geclyiarkd hpqflayiqd hmliaslwrv vksefsqlss lavplllhal
     1081 slphgadifw tiingnfnsk dwkmrfeave kvavicrfld ihsvtknhll kyslahafcc
     1141 fltavedvnp avatraglll dtikrpalqg lclcldfqfd tvvkdrptil skllllhflk
     1201 qdipalswef fvnrfetlsl eaqlhldcnk efpfpttita vrtnvanlsd aalwkikrar
     1261 farnrqksvr slrdsvkgpv eskralslpe tltskipmrl trheqsapal ggtpeqtpgq
     1321 qspendntik dllpedagid hqtvhqlitv lmkfmakdes saesdissak afntvkrhly
     1381 vllgydqqeg cfmiapqkmr lstcfnafia giaqvmdyni nlgkhllplv vqvlkycscp
     1441 qlrhyfqqpp rcslwslkph irqmwlkall vilykypyrd cdiskillhl ihitvntlna
     1501 qyhsckphat agplysdnsn isrysekekg eielaeyret galqdsllhc vreesipkkk
     1561 lrsfkqksld ignadsllft ldehrrksci drcdiekppt qaayiaqrpn dpgrsrqnsa
     1621 trpdnseipe npamegfpda rrpvipevrl ncmetfevkv dspvkpapke dldlidlssd
     1681 stsgpekhsi lstsdsdslv feplpplriv esdeeeetmn qgddgpsgkn aasspsvpsh
     1741 psvlslstap lvqvsvedcs kdfsskdsgn nqsagntdsa litledpmda egsskpeelp
     1801 efscgspltl kqkrdllqks falpemsldd hpdpgtegek pgelmpssga ktvllkvped
     1861 aenptesekp dtsaesdteq nperkveedg aeesefkiqi vprqrkqrki avsaiqreyl
     1921 disfnildkl geqkdpdpst kglstlempr esssaptlda gvpetsshss istqyrqmkr
     1981 gslgvltmsq lmkrqlehqs saphnisnwd teqiqpgkrq cnvptclnpd legqplrmrg
     2041 atkssllsap sivsmfvpap eeftdeqptv mtdkchdcga ileeydeetl glaivvlstf
     2101 ihlspdlaap llldimqsvg rlassttfsn qaesmmvpgn aagvakqflr cifhqlapng
     2161 ifpqlfqsti kdgtflrtla sslmdfnels siaalsqlle glnnkknlpa ggamirclen
     2221 iatfmealpm dspsslwtti snqfqtffak lpcvlplkcs ldsslrimic llkipstnat
     2281 rsllepfskl lsfviqnavf tlaylvelcg lcyraftker dkfylsrsvv lellqalklk
     2341 splpdtnlll lvqficadag tklaestils kqmiasvpgc gtaamecvrq yinevldfma
     2401 dmhtltklks hmktcsqplh edtfgghlkv glaqiaamdi srgnhrdnka virylpwlyh
     2461 ppsamqqgpk efiecvshir llswlllgsl thnavcpnas spclpiplda gshvadhliv
     2521 iligfpeqsk tsvlhmcslf hafifaqlwt vyceqsavat nlqnqnefsf tailtalefw
     2581 srvtpsilql mahnkvmvem vclhvislme alqecnstif vklipmwlpm iqsnikhlsa
     2641 glqlrlqaiq nhvnhhslrt lpgsgqssag laalrkwlqc tqfkmaqvei qsseaasqfy
     2701 pl
//
LOCUS       XP_054185926             386 aa            linear   PRI 20-MAR-2023
DEFINITION  general transcription factor IIH subunit 2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054185926
VERSION     XP_054185926.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329951.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187651.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..386
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     Protein         1..386
                     /product="general transcription factor IIH subunit 2
                     isoform X2"
                     /calculated_mol_wt=43736
     CDS             1..386
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /coded_by="XM_054329951.1:56..1216"
                     /db_xref="GeneID:2966"
                     /db_xref="HGNC:HGNC:4656"
                     /db_xref="MIM:601748"
ORIGIN      
        1 mdeepertkr weggyertwe ilkedesgsl katiedilfk akrkrvfehh gqvrlgmmrh
       61 lyvvvdgsrt medqdlkpnr ltctlklley fveeyfdqnp isqigiivtk skraekltel
      121 sgnprkhits lkkavdmtch gepslynsls iamqtlkhmp ghtsrevlii fsslttcdps
      181 niydliktlk aakirvsvig lsaevrvctv laretggtyh vildeshyke llthhvsppp
      241 assssecsli rmgfpqhtia slsdqdakps fsmahldgnt epgltlggyf cpqcrakyce
      301 lpveckicgl tlvsaphlar syhhlfplda fqeipleeyn gerfmfvlca kmfsvwtvmf
      361 lfmilytval avfirfqllq vfdssm
//
LOCUS       XP_054187712             486 aa            linear   PRI 20-MAR-2023
DEFINITION  neuronal acetylcholine receptor subunit alpha-7 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054187712
VERSION     XP_054187712.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331737.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_011332701.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..486
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.1-13.3"
     Protein         1..486
                     /product="neuronal acetylcholine receptor subunit alpha-7
                     isoform X1"
                     /calculated_mol_wt=53920
     CDS             1..486
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /coded_by="XM_054331737.1:328..1788"
                     /db_xref="GeneID:1139"
                     /db_xref="HGNC:HGNC:1960"
                     /db_xref="MIM:118511"
ORIGIN      
        1 mdsepafgaa sgegglflpa gqgligedta padlllpesh rtslrrgkgd eknqvlttni
       61 wlqmswtdhy lqwnvseypg vktvrfpdgq iwkpdillyn saderfdatf htnvlvnssg
      121 hcqylppgif ksscyidvrw fpfdvqhckl kfgswsyggw sldlqmqead isgyipngew
      181 dlvgipgkrs erfyecckep ypdvtftvtm rrrtlyygln llipcvlisa lallvfllpa
      241 dsgekislgi tvllsltvfm llvaeimpat sdsvpliaqy fastmiivgl svvvtvivlq
      301 yhhhdpdggk mpkwtrvill nwcawflrmk rpgedkvrpa cqhkqrrcsl asvemsavap
      361 ppasngnlly igfrgldgvh cvptpdsgvv cgrmacspth dehllhggqp pegdpdlaki
      421 leevryianr frcqdeseav csewkfaacv vdrlclmafs vftiictigi lmsapnfvea
      481 vskdfa
//
LOCUS       XP_054190128             390 aa            linear   PRI 20-MAR-2023
DEFINITION  Fc receptor-like protein 1 isoform X8 [Homo sapiens].
ACCESSION   XP_054190128
VERSION     XP_054190128.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334153.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..390
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..390
                     /product="Fc receptor-like protein 1 isoform X8"
                     /calculated_mol_wt=42754
     CDS             1..390
                     /gene="FCRL1"
                     /gene_synonym="CD307a; FCRH1; IFGP1; IRTA5"
                     /coded_by="XM_054334153.1:84..1256"
                     /db_xref="GeneID:115350"
                     /db_xref="HGNC:HGNC:18509"
                     /db_xref="MIM:606508"
ORIGIN      
        1 mlprllllic aplcepaelf liaspshpte gspvtltckm pflqssdaqf qfcffrdtra
       61 lgpgwssspk lqiaamwked tgsywceaqt maskvlrsrr sqinvhrvpv advsletqpp
      121 ggqvmegdrl vlicsvamgt gditflwykg avglnlqskt qrsltaeyei psvresdaeq
      181 yycvaengyg pspsglvsit vripvsrpil mlrapraqaa vedvlelhce alrgsppily
      241 wfyheditlg srsapsggga sfnlslteeh sgnysceann glgaqrseav tlnftgrrsa
      301 rdplrslpsp lpqeftylns ptpgqlqpiy envnvvsgde vyslayynqp eqesvaaetl
      361 gthmedkvsl diysrlrkan itdvdyddam
//
LOCUS       XP_054191707             319 aa            linear   PRI 20-MAR-2023
DEFINITION  carbonic anhydrase 14 isoform X3 [Homo sapiens].
ACCESSION   XP_054191707
VERSION     XP_054191707.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335732.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..319
                     /product="carbonic anhydrase 14 isoform X3"
                     /calculated_mol_wt=35999
     CDS             1..319
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /coded_by="XM_054335732.1:356..1315"
                     /db_xref="GeneID:23632"
                     /db_xref="HGNC:HGNC:1372"
                     /db_xref="MIM:604832"
ORIGIN      
        1 mlfsalllev iwilaadggq hwtyegphgq dhwpasypec gnnaqspidi qtdsvtfdpd
       61 lpalqphgyd qpgtepldlh nnghtvqlsl pstlylgglp rkyvaaqlhl hwgqkgspgg
      121 sehqinseat faelhivhyd sdsydslsea aerpqglavl gilievgetk niayehilsh
      181 lhevrhkdqk tsvppfnlre llpkqlgqyf ryngslttpp cyqsvlwtvf yrrsqismeq
      241 leklqgtlfs teeepskllv qnyralqpln qrmvfasfiq agssyttgrr gwktervwss
      301 pqhkprlrhk fllryhgcg
//
LOCUS       XP_054193348             392 aa            linear   PRI 20-MAR-2023
DEFINITION  protein misato homolog 1 isoform X5 [Homo sapiens].
ACCESSION   XP_054193348
VERSION     XP_054193348.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337373.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..392
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..392
                     /product="protein misato homolog 1 isoform X5"
                     /calculated_mol_wt=41977
     CDS             1..392
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /coded_by="XM_054337373.1:105..1283"
                     /db_xref="GeneID:55154"
                     /db_xref="HGNC:HGNC:29678"
                     /db_xref="MIM:617619"
ORIGIN      
        1 mgmgtpealr eagrleafgq gesvlkepky qeeledrlhf yveecdylqg fqilcdlhdg
       61 fsgvgakaae llqdeysgrg iitwgllpgp yhrgeaqrni yrllntafgl vhltahsslv
      121 cplslggslg lrpeppvsfp ylhydatlpf hcsailatal dtvtvpyrlc sspvsmvhla
      181 dmlsfcgkkv vtagaiipfp lapgqslpds lmqfggatpw tplsacgeps gtrcfaqsvv
      241 lrgidracht sqltpgtppp salhacttge eilaqylqqq qpgvmssshl lltpcrvapp
      301 yphlfsscsp pgmvldgspk gavesipvfg alcsssslhq tlealardlt kldlrrwasf
      361 mdagvehddv aellqelqsl aqcyqggdsl vd
//
LOCUS       XP_054195594             210 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C1orf105 isoform X1 [Homo sapiens].
ACCESSION   XP_054195594
VERSION     XP_054195594.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339619.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..210
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..210
                     /product="uncharacterized protein C1orf105 isoform X1"
                     /calculated_mol_wt=24173
     CDS             1..210
                     /gene="C1orf105"
                     /coded_by="XM_054339619.1:202..834"
                     /db_xref="GeneID:92346"
                     /db_xref="HGNC:HGNC:29591"
ORIGIN      
        1 mekrelkiys khteqylsys lnpcasspqr gmpqasvpkf dkipwlseas lvnkplvlsl
       61 prryphtsat fltsskknmn lpilfqvpdv lskarrnqcd smllrnqqlc stcqemkmvq
      121 prtmkipddp kasfencmsy rmslhqpkfq ttpepfhddi ptenihyrlp ilgprtavfh
      181 gllteayktl kerqrsslpr kepigkttrq
//
LOCUS       XP_054221357            1312 aa            linear   PRI 20-MAR-2023
DEFINITION  WASH complex subunit 2C isoform X1 [Homo sapiens].
ACCESSION   XP_054221357
VERSION     XP_054221357.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365382.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1312
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1312
                     /product="WASH complex subunit 2C isoform X1"
                     /calculated_mol_wt=143773
     CDS             1..1312
                     /gene="WASHC2C"
                     /gene_synonym="FAM21A; FAM21C; VPEF"
                     /coded_by="XM_054365382.1:53..3991"
                     /db_xref="GeneID:253725"
                     /db_xref="HGNC:HGNC:23414"
                     /db_xref="MIM:613631"
ORIGIN      
        1 mmnrttpdqe lvpasepvwe rpwsveeirr ssqswslaad agllqflqef sqqtisrthe
       61 ikkqvdglir etkatdcrlh nvfndflmls ntqfienrvy deeveepvlk aeaekteqek
      121 treqkevdli pkvqeavnyg lqvldsafeq ldikagnsds eeddangrve lilepkdlyi
      181 drplpyligs klfmeqedvg lgelsseegs vgsdrgsivd teeekeeees dedfahhsdn
      241 eqnqhttqts deeedddgcd lfadsekeee diedieentr pkrsrptsfa delaarikgd
      301 amgrvdeept tlpsgeakpr ktlkekkerr tpsddeednl fappkltded fspfgsgggl
      361 fsggkglfdd edeesdlfte apqdrqagas vkeesssskp gkkipagavs vflgdtdvfg
      421 aasvpslkep qkpeqptprk spygppptgl fddddgdddd dffsaphskp sktrkvqsta
      481 difgdeegdl fkekavaspe atvsqtdenk araekkdlfs sqsasnlkga sllpgklpts
      541 vslfddedee dnlfggtaak kqtlslqaqr eekakasels kkkasallfs sdeedqwnip
      601 asqthlasds rskgeprdsg tlqsqeakav kktslfeedk eddlfaiakd sqkktqrvsl
      661 lfeddvdsgg slfgspptsv ppatkkketv seappllfsd eeekeaqlgv ksvdkkvesa
      721 keslkfgrtd vaesekegll trsaqetvkh sdlfsssspw dkgtkprtkt vlslfdeeed
      781 kmedqniiqa pqkevgkgcd pdahpkstgv fqdeellfsh klqkdndpdv dlfagtkktk
      841 llepsvgslf gddedddlfs saksqplvqe kkrvvkkdhs vnsfknqkhp esiqgskekg
      901 iwkpetpqds sglapfktke pstrigkiqa nlainpaall ptaasqisev kpvlpelafp
      961 ssehrrshgl esvpvlpgsg eagvsfdlpa qadtlhsank srvkmrgkrr pqtraarrla
     1021 aqesseaedm siprgpiaqw adgaispngh rpqlraasge dsteealaaa aapweggpvp
     1081 gvdtspfaks lghsrgeadl fdsgdifstg tgsqsvertk pkakiaenpa nppvggkaks
     1141 pmfpalgeas sdddlfqsak pkpakktnpf pllededdlf tdqkvkknet ksssqqdvil
     1201 ttqdifeddi fateaikpsq ktrekektle snlfddnidi fadltvkpke kskkkveaks
     1261 ifdddmddif ssgiqakttk pksrsaqaap eprfehkvsn ifddplnafg gq
//
LOCUS       XP_054222129            2385 aa            linear   PRI 20-MAR-2023
DEFINITION  cilia- and flagella-associated protein 46 isoform X7 [Homo
            sapiens].
ACCESSION   XP_054222129
VERSION     XP_054222129.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366154.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2385
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2385
                     /product="cilia- and flagella-associated protein 46
                     isoform X7"
                     /calculated_mol_wt=267630
     CDS             1..2385
                     /gene="CFAP46"
                     /gene_synonym="bA288G11.4; bA288G11.5; bB137A17.2;
                     bB137A17.3; C10orf123; C10orf124; C10orf92; C10orf93;
                     TTC40"
                     /coded_by="XM_054366154.1:87..7244"
                     /db_xref="GeneID:54777"
                     /db_xref="HGNC:HGNC:25247"
                     /db_xref="MIM:618543"
ORIGIN      
        1 mdlvitqela raesqqdaas lkkayeliks anlgksefdp sesfspdlfv lcaeqalkmr
       61 qpevsedciq myfkvkapit qflgrahlcr aqmcapksae nleefencvt eymkainfak
      121 gepryyflvy nasvlywqmv rpflkpgyrh hlipslsqii nvlsqteeed kewraelmle
      181 llecylqagr keeaarfcst aapfikshvp qkyrqifsvm vrhelmdelq lkeekknsis
      241 lsvtfyinml kakaeqndlp gdisvilrka yrhlghynhq rfpsiseekm lllfelarfs
      301 ltlkcmeiss aclsdlkkme skdpgkliem ecleceseal rleskmkvyn raaveaqldi
      361 iqrldvalqr avrlgdprvi hvvcatqwnt clpllqhnlr hhlrkplagv advlekldsl
      421 mtllrcqvhm emaqieeded rlepatehlr kaarldslgl yrdriqmast rlrlcttlyq
      481 aperaedkai maveqakkat pkdsvrkkra llvnaglala pdafqivlds eneakvstgk
      541 nrgrftylca kawhhtvsvd kaaghlrrlg nendkeriqi waelakvark qgvwdvcrta
      601 srfcllydnv kvkklrlrrg kkkrgrdgsv qdtwsqpevv lqrqvcpdll rkfaevgfih
      661 aeatvhllrs egvelndrai ppedlsqhpa gyvpeppevn aewityrtwi eslsrcamnn
      721 wlrsaeigqe iqeawivqna vvyvlnhnhh lilagrqkel vdalyhllsi vkatghsgdp
      781 vmlvtlcntl argliiswip vqaaeksrkf mrpnafhspl dagatseikt avevcefaln
      841 ltngsapeet vptgtrqqli atwvkakqll qqqigprlgt eeqgtnedvs svtrvlvale
      901 myscnglglm dftvpslaql vkmasecnws dplvelqtlt rlthfahaar dhettmacah
      961 ralemgikyl kkfgpeesrl vaemlctata iqgrsimenl kgrkqlrlva akaftesarf
     1021 ggiagssalv mlaarhywna wlpllssavy rkkakgalkr ligiinktea rkqekgktll
     1081 lhqwptadfq gggttegyfl pgaeddlalr aalygllfhs hadqddwegg lkvldeavqv
     1141 lprtahrlli fkhmvivkak lgqnfsmeiq kfkaesedyl armwhrlaln spsvsgelac
     1201 ynnaiqalqk pemewqkvey lmefgqwlhh rhfpledvvf hlrwaveill amkppgdvpe
     1261 pqptpdgeyv avempprspv seaeeavsle qlrsvrqlea larvhillal vlspgaegye
     1321 dcclaayaff rhiwqvslmt agksvlenrp laatsshlll pkkekeners kekekerske
     1381 kenerskekd kekgkeekvk epkqsqspap ikqledlpms ieewasyscp eevlsvlkqd
     1441 rsdstvnpss iqkptyslyf ldhlvkalqk mclheltvpv lqlgvlisds vvgskglsdl
     1501 yhlrlahacs elklreaaar heeavgqvcv seleqascrk eialkkeknk eplleeslpa
     1561 lneqtlpvqp geikpldakd kilkmngetg rdldgtsfph lwmlkaevll emnlyqparl
     1621 llseaylafq eldepcaeaq cllllaqlan keknygqakk miaqaqhlgg seefwynstl
     1681 tlaeallsme hsgreatvch ifqklinafk ilkkerpnrl pllefmitdl earclslrvr
     1741 vaqhsavtep tecslllkem ddglleierk fidcgckenc vdvkleraki krlraqnekd
     1801 eeqktayyle ayglaqgava eeegrlhsiq glyglaqgam aeeegrlhsv qgllslqdlq
     1861 nvntplmrkl arlklglvem aldmlqfiwe eahgqqseqg sleklladyl qntsdytsvg
     1921 lqwftlkrtl ahgalaqlgs lqplsvgcve irarllglag ralhllamqa dpvhptcywe
     1981 agpsvgakls glksleleve eegatkssrd ppasraapee hcrrgedlkr rmvlaqqyla
     2041 qasevllqcl qvalgsglld vaaaaslemv ecvgtldpat tcqflalsqs csasetmrdv
     2101 llaatantss sqlaallqlq hqlrcqdrtt tslgarveqr laavskawqn lcvteqhfnl
     2161 lnempptfwi lflhlsgdsr srlygaayek pkfitaakgk vqavggsckv mrlaisptaf
     2221 shllacaqqf rkqtqaqvys edmalnigse peglqveeke rpvqrlssvl gpleellqpl
     2281 fpllslskar vqtpavvads gkskgkdker ktstgqhstv qpevadkivl vadrhllelp
     2341 leglsvfdeg tissvsrefs lqmlwnrlhk eetdsekheg argrp
//
LOCUS       XP_054225193            1037 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 132A isoform X1 [Homo sapiens].
ACCESSION   XP_054225193
VERSION     XP_054225193.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369218.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1037
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1037
                     /product="transmembrane protein 132A isoform X1"
                     /calculated_mol_wt=111121
     CDS             1..1037
                     /gene="TMEM132A"
                     /gene_synonym="GBP; HSPA5BP1"
                     /coded_by="XM_054369218.1:2534..5647"
                     /db_xref="GeneID:54972"
                     /db_xref="HGNC:HGNC:31092"
                     /db_xref="MIM:617363"
ORIGIN      
        1 mvvrgegtft alfslpcpql lcpsmapgsa passgaviis psyassvdcg qapldpvylp
       61 aalelldape hfrvqqvghy ppansslssr setflllqpw praqpllras yppfatqqvv
      121 pprvtephqr pvpwdvravs veaavtpaep yarvlfhlkg qdwppgsgsl pcarlhathp
      181 agtahqacrf qpslgacvve lelpshwfsq asttraelay tlepaaegpg gcgsgeendp
      241 geqalpvggv elrpadppqy qevpldeavt lrvpdmpvrp gqlfsatlll rhnftasllt
      301 lrikvkkglh vtaarpaqpt lwtakldrfk gsrhhttlit chragltepd sssplelsef
      361 lwvdfvvens tgggvavtrp vtwqleypgq apeaekdkmv weilvserdi raliplakae
      421 elvntapltg vpqhvpvrlv tvdgggalve vtehvgcesa ntqvlqvsea cdavfvagke
      481 srgargvrvd fwwrrlrasl rltvwapllp lrieltdttl eqvrgwrvpg paegpaepaa
      541 easdeaerra rgchlqyqra gvrflapfaa hpldggrrlt hllgpdwlld vshlvaphar
      601 vldsrvasle ggrvvvgrep gvtsievrsp lsdsilgeqa lavtddkvsv lelrvqpvmg
      661 isltlsrgta hpgevtatcw aqsalpapkq evalslwlsf sdhtvapael ydrrdlglsv
      721 saeepgailp aeeqgaqlgv vvsgagaegl plhvalhppe pcrrgrhrvp lasgtawlgl
      781 ppastpapal psspawsppa teatmggkrq vagsvggntg vrgkferaee earkeetear
      841 eeeeeeeeem vpapqhvtel elgmyallgv fcvaififlv ngvvfvlryq rkeppdsatd
      901 ptspqphnwv wlgtdqeels rqldrqspgp pkgegscpce sggggeaptl apgppggtts
      961 ssstlarkea ggrrkrvefv tfvpappaqs peepvgapav qsilvageed irwvcedmgl
     1021 kdpeelrnym erirgss
//
LOCUS       XP_054226516             295 aa            linear   PRI 20-MAR-2023
DEFINITION  peroxisomal biogenesis factor 16 isoform X1 [Homo sapiens].
ACCESSION   XP_054226516
VERSION     XP_054226516.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370541.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 13% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..295
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..295
                     /product="peroxisomal biogenesis factor 16 isoform X1"
                     /calculated_mol_wt=33959
     CDS             1..295
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /coded_by="XM_054370541.1:358..1245"
                     /db_xref="GeneID:9409"
                     /db_xref="HGNC:HGNC:8857"
                     /db_xref="MIM:603360"
ORIGIN      
        1 mhwvlksrvy sasnllvlln dgilrkelrk klpvslsqqk lltwlsvlec vevfmemgaa
       61 kvwgevgrwl vialiqlaka vlrmllllwf kaglqtsppi vpldretqaq ppdgdhspgn
      121 heqsyvgkrs nrvvrtlqnt pslhsrhwga pqqregrqqq hheelsatpt plglqetiae
      181 flyiarpllh llslglwgqr swkpwllagv vdvtslslls drkgltrrer relrrrtill
      241 lyyllrspfy drfsearilf llqlladhvp gvglvtrplm dylptwqkiy fyswg
//
LOCUS       XP_054226677             618 aa            linear   PRI 20-MAR-2023
DEFINITION  tastin isoform X3 [Homo sapiens].
ACCESSION   XP_054226677
VERSION     XP_054226677.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370702.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..618
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..618
                     /product="tastin isoform X3"
                     /calculated_mol_wt=66967
     CDS             1..618
                     /gene="TROAP"
                     /gene_synonym="TASTIN"
                     /coded_by="XM_054370702.1:301..2157"
                     /db_xref="GeneID:10024"
                     /db_xref="HGNC:HGNC:12327"
                     /db_xref="MIM:603872"
ORIGIN      
        1 mttrqatkdp llrgvsptps kipvrsqkrt pfptvtscav dqenqdprrw vqkpplniqr
       61 plvdsagprp karhqaetsq rlvgisqprn pleelrpspr gqnvgpgppa qteapgtief
      121 vadpaalati lsgegvksch lgrqpslakr vlvrgsqggt tqrvqgvras aylaprtpth
      181 rldparascf srlegpgprg rtlcpqrlqa lispsgpsfh pstrpsfqel rretagssrt
      241 svsqasglll etpvqpafsl pkgerevvth sdeggvaslg laqrvplren remshtrdsh
      301 dshlmpspap vaqplpghvv pcpspfgraq rvpspgpptl tsysvlrrlt vqpktrftpm
      361 pstprvqqaq wlrgvspqsc sedpalpweq vavrlfdqes cirslegsgk ppvatpsgph
      421 snrtpslqev kiqrigilqq llrqeveglv ggqcvplngg ssldmvelqp llteisrtln
      481 atehnsgtsh lpgllkhsgl pkpclpeecg epqpcppaep gppeafcrse peipepslqe
      541 qlevpepypp aeprplescc rsepeipess rqeqlevpep cppaeprple sycriepeip
      601 essrqeqlea saiwplep
//
LOCUS       XP_054229216             257 aa            linear   PRI 20-MAR-2023
DEFINITION  vacuolar protein sorting-associated protein 37B isoform X3 [Homo
            sapiens].
ACCESSION   XP_054229216
VERSION     XP_054229216.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373241.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..257
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..257
                     /product="vacuolar protein sorting-associated protein 37B
                     isoform X3"
                     /calculated_mol_wt=28312
     CDS             1..257
                     /gene="VPS37B"
                     /coded_by="XM_054373241.1:227..1000"
                     /db_xref="GeneID:79720"
                     /db_xref="HGNC:HGNC:25754"
                     /db_xref="MIM:610037"
ORIGIN      
        1 mrnqgawlwt qnvqlnkemt lasnrslaeg nllyqpqldt lkarltqkyq elqvlfeayq
       61 ikktkldrqs ssasletlla llqaegakie edtenmaekf ldgelpldsf idvyqskrkl
      121 ahmrrvkiek lqemvlkgqr lpqalaplpp rlpelaptap lpypapeasg ppavaprrip
      181 pppppvpagr latpftaams sgqavpypgl qcpplpprvg lptqqgfssq fvspyppplp
      241 qrppprlpph qpgfilq
//
LOCUS       XP_054229585            1015 aa            linear   PRI 20-MAR-2023
DEFINITION  liprin-beta-1 isoform X10 [Homo sapiens].
ACCESSION   XP_054229585
VERSION     XP_054229585.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373610.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1015
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1015
                     /product="liprin-beta-1 isoform X10"
                     /calculated_mol_wt=114230
     CDS             1..1015
                     /gene="PPFIBP1"
                     /gene_synonym="hSGT2; hSgt2p; L2; NEDSMBA; SGT2"
                     /coded_by="XM_054373610.1:284..3331"
                     /db_xref="GeneID:8496"
                     /db_xref="HGNC:HGNC:9249"
                     /db_xref="MIM:603141"
ORIGIN      
        1 mmsdasdmla aaleqmdgii agskaleysn gifdcqspts pfmgslralh lvedlrglle
       61 mmetdekegl rcqipdstae tlvewlqsqm tnghlpgngd vyqerlarle ndkeslvlqv
      121 svltdqveaq gekirdlefc leehreklna teemlqqell srtsletqkl dlmaeisnlk
      181 lkltavekdr ldyedkfrdt egliqeindl rlkvsemdse rlqyekklks tkslmaklss
      241 mkikvgqmqy ekqrmeqkwe slkdelaslk eqleekesev krlqeklvck mkgegveivd
      301 rdievqkmkk aveslmaane ekdrkiedlr qclnrykkmq dtvvlaqgkk gkdgeyeell
      361 nsssisslld aqgfsdleks psptpvmgsp scdpfntsvp eefhttilqv sipsllpatv
      421 smetsekskl tpkpetsfee ndgniilgat vdtqlcdkll tsslqksssl gnlkketsdg
      481 drapaesrpf gtlpprppgq dtsmddnpfg trkvrssfgr gffkiksnkr tasapnldrk
      541 rsasaptlae teketaehld lagassrpkd sqrnspfqip ppspdskkks rgimklfgkl
      601 rrsqsttfnp ddmsepefkr ggtratagpr lgwsrdlgqs nsdldmpfak wtkeqvcnwl
      661 meqglgsyln sgkhwiasgq tllqasqqdl ekelgikhsl hrkklqlalq algseeetnh
      721 gkldfnwvtr wlddiglpqy ktqfdegrvd grmlhymtvd dllslkvvsv lhhlsikrai
      781 qvlrinnfep nclrrrpsde ntiapsevqk wtnhrvmewl rsvdlaeyap nlrgsgvhgg
      841 lmvleprfnv etmaqllnip pnktllrrhl athfnlliga eaqhqkrdam elpdyvllta
      901 takvkpkkla fsnfgnlrkk kqedgeeyvc pmelgqasgs askkgfkpgl dmrlyeeddl
      961 drleqmedse gtvrqigafs eginnlthml keddmfkdfa arspsasitd edsnv
//
LOCUS       XP_054231586            1331 aa            linear   PRI 20-MAR-2023
DEFINITION  apoptotic chromatin condensation inducer in the nucleus isoform X2
            [Homo sapiens].
ACCESSION   XP_054231586
VERSION     XP_054231586.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375611.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1331
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1331
                     /product="apoptotic chromatin condensation inducer in the
                     nucleus isoform X2"
                     /calculated_mol_wt=150795
     CDS             1..1331
                     /gene="ACIN1"
                     /gene_synonym="ACINUS; ACN; fSAP152"
                     /coded_by="XM_054375611.1:329..4324"
                     /db_xref="GeneID:22985"
                     /db_xref="HGNC:HGNC:17066"
                     /db_xref="MIM:604562"
ORIGIN      
        1 mwrrkhprts ggtrgvlsgn rgveygsgrg hlgtfegrwr klpkmpeavg tdpstsrkma
       61 eleevtldgk plqalrvtdl kaaleqrgla ksgqksalvk rlkgalmlen lqkhstphaa
      121 fqpnsqigee msqnsfikqy lekqqellrq rlereareaa eleeasaese demihpegva
      181 sllppdfqss lerpelelsr hsprksssis eekgdsddek prkgerrssr vrqaraakls
      241 egsqpaeeee dqetpsrnlr vradrnlkte eeeeeeeeee eddeeeegdd egqksreapi
      301 lkefkeegee mprvkpeemm derpktrsqe qevlerggrf trsqeearks hlarqqqeke
      361 mkttspleee ereikssqgl kekskspspp rltedrkkas lvalpeqtas eeetpppllt
      421 keassppphp qlhseeeiep megpappvli qlsppntdad trellvpqht vqlvgglspl
      481 sspsdtkaes paekvpeesv lplvqkstla dysaqkdlep esdrsaqplp lkieelalak
      541 giteeclkqp sleqkegrra shtllpshrl kqsadssssr sssssssssr srsrspdssg
      601 srshsplrsk qrdvaqarth anprgrpkmg srstsesrsr srsrsrsrsa ssnsrkslsp
      661 gvsrdsstsy tetkdpssgq evatppvpql qvcepkerts tssssvqarr lsqpesaekh
      721 vtqrlqperg spkkceaeea eppaatqpqt setqtshlpe serihhtvee keevtmdtse
      781 nrpendvpep pmpiadqvsn ddrpegsved eekkesslpk sfkrkisvvs atkgvpagns
      841 dteggqpgrk rrwgastatt qkkpsisitt eslkeavvdl haddsrised eterngddgt
      901 hdkglkicrt vtqvvpaegq engqreeeee ekepeaeppv ppqvsveval pppaehevkk
      961 vtlgdtltrr sisqqksgvs itiddpvrta qvpspprgki snivhisnlv rpftlgqlke
     1021 llgrtgtlve eafwidkiks hcfvtystve eavatrtalh gvkwpqsnpk flcadyaeqd
     1081 eldyhrgllv drpsetktee qgiprplhpp ppppvqppqh praeqreqer avreqwaere
     1141 remerrertr serewdrdkv regprsrsrs rdrrrkerak skekksekke kaqeeppakl
     1201 lddlfrktka apciywlplt dsqivqkeae raerakerek rrkeqeeeeq kerekeaere
     1261 rnrqlerekr rehsrerdre rerererdrg drdrdrerdr ergrerdrrd tkrhsrsrsr
     1321 stpvrdrggr r
//
LOCUS       XP_054232034             722 aa            linear   PRI 20-MAR-2023
DEFINITION  MAP/microtubule affinity-regulating kinase 3 isoform X8 [Homo
            sapiens].
ACCESSION   XP_054232034
VERSION     XP_054232034.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376059.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..722
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..722
                     /product="MAP/microtubule affinity-regulating kinase 3
                     isoform X8"
                     /calculated_mol_wt=80925
     CDS             1..722
                     /gene="MARK3"
                     /gene_synonym="CTAK1; KP78; Par-1a; PAR1A; VIPB"
                     /coded_by="XM_054376059.1:616..2784"
                     /db_xref="GeneID:4140"
                     /db_xref="HGNC:HGNC:6897"
                     /db_xref="MIM:602678"
ORIGIN      
        1 mstrtplptv nerdtenhts hgdgrqevts rtsrsgarcr nsiascadeq phignyrllk
       61 tigkgnfakv klarhiltgr evaikiidkt qlnptslqkl frevrimkil nhpnivklfe
      121 vietektlyl imeyasggev fdylvahgrm kekearskfr qivsavqych qkrivhrdlk
      181 aenllldadm nikiadfgfs neftvggkld tfcgsppyaa pelfqgkkyd gpevdvwslg
      241 vilytlvsgs lpfdgqnlke lrervlrgky ripfymstdc enllkrflvl npikrgtleq
      301 imkdrwinag heedelkpfv epeldisdqk ridimvgmgy sqeeiqesls kmkydeitat
      361 ylllgrksse vrpssdlnns tgqsphhkvq rsvsssqkqr rysdhagpai psvvaypkrs
      421 qtstadsdlk edgissrkss gsavggkgia paspmlgnas npnkadiper kksstvpssn
      481 tasggmtrrn tyvcsertta drhsviqngk enstipdqrt pvasthsiss aatpdrirfp
      541 rgtasrstfh gqprerrtat yngppaspsl sheatplsqt rsrgstnlfs kltskltrrn
      601 msfrfiksrn vsaeqkdenk eakprslrft wsmkttssmd pgdmmreirk vldanncdye
      661 qrerfllfcv hgdghaenlv qwemevcklp rlslngvrfk risgtsiafk niaskianel
      721 kl
//
LOCUS       XP_054233733             697 aa            linear   PRI 20-MAR-2023
DEFINITION  histidine decarboxylase isoform X1 [Homo sapiens].
ACCESSION   XP_054233733
VERSION     XP_054233733.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377758.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..697
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..697
                     /product="histidine decarboxylase isoform X1"
                     /calculated_mol_wt=77668
     CDS             1..697
                     /gene="HDC"
                     /coded_by="XM_054377758.1:104..2197"
                     /db_xref="GeneID:3067"
                     /db_xref="HGNC:HGNC:4855"
                     /db_xref="MIM:142704"
ORIGIN      
        1 mmepeeyrer gremvdyicq ylstvrerrv tpdvqpgylr aqlpesaped pdswdsifgd
       61 ieriimpgvv hwqsphmhay ypaltswpsl lgdmladain clgftwassp actelemnvm
      121 dwlakmlglp ehflhhhpss qgggvlqstv sestlialla arknkilemk tsepdadesc
      181 lnarlvayas dqahssveka glislvkmkf lpvddnfslr gealqkaiee dkqrglvpvf
      241 vcatlgttgv cafdclselg piskahhpcs pplslarcet sfptsylpsg qvmfassgar
      301 eglwlhidaa yagtaflcpe frgflkgiey adsftfnpsk wmmvhfdctg fwvkdkyklq
      361 qtfsvnpiyl rhansgvatd fmhwqiplsr rfrsvklwfv irsfgvknlq ahvrhgtema
      421 kyfeslvrnd psfeipakrh lglvvfrlkg pncltenvlk eiakagrlfl ipatiqdkli
      481 irftvtsqft trddilrdwn lirdaatlil sqhctsqpsp rvgnlisqir garawacgts
      541 lqsvsgagdd pvqarkiikq pqrvgagpmk renglhletl ldpvddcfse eapdatkhkl
      601 ssflfsylsv qtkkktvrsl scnsvpvsaq kplpteasvk nggssrvrif srfpedmmml
      661 kksafkklik fysvpsfpec ssqcglqlpc cplqamv
//
LOCUS       XP_054235531             348 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X4 [Homo
            sapiens].
ACCESSION   XP_054235531
VERSION     XP_054235531.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379556.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..348
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..348
                     /product="acyl-coenzyme A synthetase ACSM2A, mitochondrial
                     isoform X4"
                     /calculated_mol_wt=38506
     CDS             1..348
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /coded_by="XM_054379556.1:202..1248"
                     /db_xref="GeneID:123876"
                     /db_xref="HGNC:HGNC:32017"
                     /db_xref="MIM:614358"
ORIGIN      
        1 maehsysslg lkakmdagwt glqasdimwt isdtgwilni lcslmepwal gactfvhllp
       61 kfdplvilkt lssypiksmm gapivyrmll qqdlssykfp hlqncvtvge sllpetlenw
      121 raqtgldire sygqtetglt cmvsktmkik pgymgtaasc ydvqiiddkg nvlppgtegd
      181 igirvkpirp igifsgyvdn pdktaanirg dfwllgdrgi kdedgyfqfm graddiinss
      241 gyrigpseve nalmehpavv etavisspdp vrgevvkafv vlasqflshd peqltkelqq
      301 hvksvtapyk yprkiefvln lpktvtgkiq raklrdkewk msgkaraq
//
LOCUS       XP_047302619             382 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear pore complex-interacting protein family member B15 isoform
            X2 [Homo sapiens].
ACCESSION   XP_047302619
VERSION     XP_047302619.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047446663.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..382
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..382
                     /product="nuclear pore complex-interacting protein family
                     member B15 isoform X2"
                     /calculated_mol_wt=44210
     Region          23..238
                     /region_name="NPIP"
                     /note="Nuclear pore complex interacting protein (NPIP);
                     pfam06409"
                     /db_xref="CDD:428922"
     CDS             1..382
                     /gene="LOC124907808"
                     /coded_by="XM_047446663.1:1646..2794"
                     /db_xref="GeneID:124907808"
ORIGIN      
        1 mrlrfwlliw lllgfishqp tpvsflktif wsrnghdgst dvqqrawrsn rsrqkglrsi
       61 cmhtkkrvss frgnkiglkd vitlrrhvet kvrakirkrk vttkinrhdk ingkrktark
      121 qkmfqraqel rrraedyhkc kippsarkpl cnwvrmaaae hrhssglpcw pyltaealkn
      181 rmgrqppppt qqhsitdnsl slktppecll hplppsvddn ikecplaplp psvddnlkey
      241 llvplppspl ppsvddnlkd clfvplppsp lppsvddnlk tpplatqeae aekppkpkrw
      301 rvdeveqspk pkrrradeve qspkpkrqre aeaqqlpkpk rrrlsklrtr hctqawairi
      361 npwvekkkki kkqnkthapk tn
//
LOCUS       XP_054171003             779 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 13B isoform X1 [Homo
            sapiens].
ACCESSION   XP_054171003
VERSION     XP_054171003.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315028.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 18% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..779
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..779
                     /product="ankyrin repeat domain-containing protein 13B
                     isoform X1"
                     /calculated_mol_wt=86278
     CDS             1..779
                     /gene="ANKRD13B"
                     /coded_by="XM_054315028.1:65..2404"
                     /db_xref="GeneID:124930"
                     /db_xref="HGNC:HGNC:26363"
                     /db_xref="MIM:615124"
ORIGIN      
        1 mqlwgpggcg raslrrrprg prpvrprarc grllpppsgv fvcggvgger esaqrrrvpa
       61 psqggwgplr aarrrrlart pvaraartap gappppaaar tcpsrspasr qrrppaprpr
      121 apapapsllp graprprhee ramipanasa rkgpegkypl hylvwhnrhr elekevragq
      181 vdieqldprg rtplhlattl ghlecarvll ahgadvgren rsgwtvlqea vstrdlelvq
      241 lvlryrdyqr vvkrlagipv lleklrkaqd fyvemkweft swvplvskic psdtykvwks
      301 gqnlrvdttl lgfdhmtwqr gnrsfvfrgq dtsavvmeid hdrrvvytet lalagqdrel
      361 llaaaqptee qvlsrltapv vttqldtkni sfernktgil gwrsektemv ngyeakvyga
      421 snvelitrtr tehlseqhkg kvkgcktplq sflgiaeqhg gpqngtlitq tlsqanptai
      481 taeeyfnpnf elgnrdmgrp melttktqnv pyplgsgggr fkaklwlcee hplslceqva
      541 piidlmavsn alfaklrdfi tlrlppgfpv kieipifhil naritfgnln gcdepvpsvr
      601 gspssetpsp gsdsssvsss ssttscrgce ispalfeapr gysmmggqre aatrdddddl
      661 lqfaiqqsll eagseydqvt iwealtnskp gthpmsyegr rqdrsapptp qrqpappasv
      721 psprpssgpg sgghvfrsyd eqlrlamels aqeqeerrrr arqeeeeler ilrlslteq
//
LOCUS       XP_054173209             342 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-CoA-binding domain-containing protein 4 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054173209
VERSION     XP_054173209.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317234.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..342
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..342
                     /product="acyl-CoA-binding domain-containing protein 4
                     isoform X2"
                     /calculated_mol_wt=37728
     CDS             1..342
                     /gene="ACBD4"
                     /gene_synonym="HMFT0700"
                     /coded_by="XM_054317234.1:696..1724"
                     /db_xref="GeneID:79777"
                     /db_xref="HGNC:HGNC:23337"
                     /db_xref="MIM:619968"
ORIGIN      
        1 mgtekespep dcqkqfqaav sviqnlpkng syrpsyeeml rfysyykqat mgpclvprpg
       61 fwdpigrykw dawnslgkms reeamsayit emklvaqkvi dtvplgevae dmfgyfeply
      121 qvipdmprpp etflrrvtgw keqvvngdvg avseppclpk epappspasl wavtlptppq
      181 spihpgtwtp rfsvipwssw slscrfgqss gqhleesvip gtapcppqrk rgcgaarrgp
      241 rswtcgcwgq fehyrracrr crrgcrawra cpgplsrgrs pgpvlghgpl gsrgprcsss
      301 scgpssssgs secfgpkrgd cqwrglcsql rlsccalslp rv
//
LOCUS       XP_054173288            2640 aa            linear   PRI 20-MAR-2023
DEFINITION  myosin XVB isoform X9 [Homo sapiens].
ACCESSION   XP_054173288
VERSION     XP_054173288.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317313.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2640
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2640
                     /product="myosin XVB isoform X9"
                     /calculated_mol_wt=290014
     CDS             1..2640
                     /gene="MYO15B"
                     /gene_synonym="MYO15BP"
                     /coded_by="XM_054317313.1:16..7938"
                     /db_xref="GeneID:80022"
                     /db_xref="HGNC:HGNC:14083"
ORIGIN      
        1 marpagnavp tagrrpgrnr rpslpppgar eplvaagspl qrgtaaadaq glgcprkprr
       61 gkatrsvrda gpgaaaggaw rreaspeeks waaavggsgk irgprlggaa grpgasmgtr
      121 rvgteaapvr takparprra aasaaqpgsc gprrslrtwa rkgqkpgrsq rwsqaatawt
      181 atgptqipga gkgrrgrgpw epasipagtp trvrwgpdld galgqlwppg psrtargllg
      241 tlgrprtrat tgrsgapsqk qcrprrpglr atrlvcdssv llclkkrfhl griytfggpv
      301 llvlnphrsl plfspevqas yhprkalstt phifaivasa ydlaqntgqd pcillcsshc
      361 sghsgsgkte aakkimqfls sleqdqtgnr ecqledvlpi lssfghakti lnanasrfgq
      421 vfclylqqgv ivgasvshyl letsrvvfqa qaersfhvfy kllagldsie rerlslqgpe
      481 tyyylnqgqa crlqgkedaq dfegllkalq glglcpeeln avwavlaail qlgnicfsss
      541 eresqevaav sswaeihtaa rllrvppecl egavtrrvte tpygqvsrsl pvesavdard
      601 alakalysrl fhrllrrtna rlappgeggs igtvtvvday gfealrvngl eqlcnnlase
      661 rlqlfssqml laqeeeecrr ellswvpvpq pprescldll vdqphsllsi ldaqtwlsqa
      721 tdhtflqrsh yhhgdhpsya kprlplpvft vrhyagtvty qvhkflnrnr dqldpavvem
      781 lgqsqlqlvg slfqeaepqs rggrgrptla srfqqaledl iarlgrshvy fiqcltpnpg
      841 klpglfdvgh vteqlhqaai leavgtrsan fpvrvpfeaf lasfqalgse gqedlsdrek
      901 cgavlsqvlg aesplyhlga tkvllqeqgw qrleelrdqq rsqalvdlhr sfhtcisrqr
      961 vlprmqahmr gfqarkrylr rraalgqlnt illvaqpllq rrqrlqlgrw qgwhsseral
     1021 ervpsmelgr leipaelavm lktaeshrda lagsiteclp pevparpslt lpadidlfpf
     1081 ssfvaigfqe pslprpgqpl akpltqldgd npqraldink vmlrllgdgs leswqrqimg
     1141 tylvrqgqcr pglrnelfsq lvaqlwqnpd eqqsqrgwal mavllsafpp lpvlqkpllk
     1201 fvsdqaprgm aalcqhkllg aleqsqlasg atrahpptql ewlagwrrgr maldvftfse
     1261 ecysaevesw ttgeqlagwi lqsrgleapp rgwsvslhsr dawqdlagcd fvldlisqte
     1321 dlgdparprs ypitplgsae aiplapgiqa pslppgpppg paptlpsrdh tgevqrsgsl
     1381 dgfldqifqp vissglsdle qswalssrmk gggaigptqq gypmvypgmi qmpayqpgmv
     1441 papmpmmpam gtvpampamv vppqpplpsl dagqlavqqq nfiqqqalil aqqmtaqams
     1501 lsleqqmqqr qqqaraseaa sqaspsavts kprkpptppe kpqrdlgseg gclretseea
     1561 edrpyqpksf qqkrnyfqrm gqpqitvrtm kppakvhipq geaqeeeeee eeeeeqeeqe
     1621 vetravpspp pppivkkplk qggakapkea eaepaketaa kghgqgpaqg rgtvvrssds
     1681 kpkrpqpsre igniirmyqs rpgpvpvpvq psrppkaflr kidpkdeala klgingahss
     1741 ppmlspspgk gpppavaprp kaplqlgpss sikekqgpll dlfgqklpia htpppppapp
     1801 lplpedpgtl saerrcltqp vedqgvstql lapsgsvcfs ytgtpwklfl rkevfypren
     1861 fshpyylrll ceqilrdtfs escirisqne rrkmkdllgg levdldsltt tedsvkkriv
     1921 vaardnwany fsrffpvsge sgsdvqllav shrglrllkv tqgpglrpdq lkilcsysfa
     1981 evlgvecrgg stlelslkse qlvlhtarar aiealvelfl nelkkdsgyv ialrsyitdn
     2041 csllsfhrgd likllpvatl epgwqfgsag grsglfpadi vqpaaapdfs fskeqrsgwh
     2101 kgqlsngepg larwdraser pahpwsqahs ddseatslss vayaflpdsh sytmqefarr
     2161 yfrrsqallg qtdggaagkd tdslvqytka piqesllsls ddvsklavas flalmrfmgd
     2221 qskprgkdem dllyellklc qqeklrdeiy cqvikqvtgh prpehctrgw sflslltgff
     2281 ppstrlmpyl tkflqdsgps qelarssqeh lqrtvkyggr rrmpppgemk aflkgqairl
     2341 llihlpggvd yrtniqtftv aaevqeelcr qmgitepqev qefalflike ksqlvrplqp
     2401 aeylnsvvvd qdvslhsrrl hwetplhfdn styisthysq vlwdylqgkl pvsakadaql
     2461 arlaalqhls kanrntpsgq dllayvpkql qrqvntasik nlmgqelrrl eghspqeaqi
     2521 sfieamsqlp lfgytvygvl rvsmqalsgp tllglnrqhl ilmdpssqsl ycrialkslq
     2581 rlhllsplee kgppglevny gsadnpqtiw felpqaqell yttvflidss asctewpsin
//
LOCUS       XP_054173289            2582 aa            linear   PRI 20-MAR-2023
DEFINITION  myosin XVB isoform X10 [Homo sapiens].
ACCESSION   XP_054173289
VERSION     XP_054173289.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317314.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2582
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2582
                     /product="myosin XVB isoform X10"
                     /calculated_mol_wt=281542
     CDS             1..2582
                     /gene="MYO15B"
                     /gene_synonym="MYO15BP"
                     /coded_by="XM_054317314.1:219..7967"
                     /db_xref="GeneID:80022"
                     /db_xref="HGNC:HGNC:14083"
ORIGIN      
        1 mgrnqrkapq rlerpgrpas geqesgsasa dgapsrerrs drgqaarakp aaepataggq
       61 gtpggrrkpt aegnggcrrp gaglspkaqe rqsnaqrqgr gprggrggrl eegslsggee
      121 lggrrrrkrk dkgpsarrgr rtprslngdt sggdggsscp dsetreaqes gsqrgtarel
      181 rptpeptdmg segtktgpes alepssdgld sdwphadtrg regssgtgpl gasehsggds
      241 dssplgtgpg rgsraamasr tfedssrapr dtgpakdasd nraqrgaepe tmqastarap
      301 rhqvptspvp gdpfdqedet pdpkfavvfp rihragrass srsseeasad aptgegrgwp
      361 ragvgghseg crtsgegvsg lrrgsllapt apdgpsldes gssseaelet lndeppvrwa
      421 qgsgphegpr lgaavllprl sletrlqqeg dpglrgslre lwepededea vlerdlelsl
      481 rpgleappfp gakgrslgdg ledmedlarl rlvcdssvll clkkrfhlgr iytfggpvll
      541 vlnphrslpl fspevqasyh prkalsttph ifaivasayd laqntgqdpc illcsshcsg
      601 hsgsgkteaa kkimqflssl eqdqtgnrec qledvlpils sfghaktiln anasrfgqvf
      661 clylqqgviv gasvshylle tsrvvfqaqa ersfhvfykl lagldsiere rlslqgpety
      721 yylnqgqacr lqgkedaqdf egllkalqgl glcpeelnav wavlaailql gnicfssser
      781 esqevaavss waeihtaarl lrvppecleg avtrrvtetp ygqvsrslpv esavdardal
      841 akalysrlfh rllrrtnarl appgeggsig tvtvvdaygf ealrvngleq lcnnlaserl
      901 qlfssqmlla qeeeecrrel lswvpvpqpp rescldllvd qphsllsild aqtwlsqatd
      961 htflqrshyh hgdhpsyakp rlplpvftvr hyagtvtyqv hkflnrnrdq ldpavvemlg
     1021 qsqlqlvgsl fqeaepqsrg grgrptlasr fqqaledlia rlgrshvyfi qcltpnpgkl
     1081 pglfdvghvt eqlhqaaile avgtrsanfp vrvpfeafla sfqalgsegq edlsdrekcg
     1141 avlsqvlgae splyhlgatk vllqeqgwqr leelrdqqrs qalvdlhrsf htcisrqrvl
     1201 prmqahmrgf qarkrylrrr aalgqlntil lvaqpllqrr qrlqlgrwqg whsseraler
     1261 vpsmelgrle ipaelavmlk taeshrdala gsiteclppe vparpsltlp adidlfpfss
     1321 fvaigfqeps lprpgqplak pltqldgdnp qraldinkvm lrllgdgsle swqrqimgty
     1381 lvrqgqcrpg lrnelfsqlv aqlwqnpdeq qsqrgwalma vllsafpplp vlqkpllkfv
     1441 sdqaprgmaa lcqhkllgal eqsqlasgat rahpptqlew lagwrrgrma ldvftfseec
     1501 ysaeveswtt geqlagwilq srgleapprg wsvslhsrda wqdlagcdfv ldlisqtedl
     1561 gdparprsyp itplgsaeai plapgiqaps lppgpppgpa ptlpsrdhtg evqrsgsldg
     1621 fldqifqpvi ssglsdleqs walssrmkgg gaigptqqgy pmvypgmiqm payqpgmvpa
     1681 pmpmmpamgt vpampamvvp pqpplpslda gqlavqqqnf iqqqalilaq qmtaqamsls
     1741 leqqmqqrqq qaraseaasq aspsavtskp rkpptppekp qrdlgseggc lretseeaed
     1801 rpyqpksfqq krnyfqrmgq pqitvrtmkp pakvhipqge aqeeeeeeee eeeqeeqeve
     1861 travpspppp pivkkplkqg gakapkeaea epaketaakg hgqgpaqgrg tvvrssdskp
     1921 krpqpsreig niirmyqsrp gpvpvpvqps rppkaflrki dpkdealakl gingahsspp
     1981 mlspspgkgp ppavaprpka plqlgpsssi kekqgplldl fgqklpiaht pppppapplp
     2041 lpedpgtlsa errcltqpve dqgvstqlla psgsvcfsyt gtpwklflrk evfyprenfs
     2101 hpyylrllce qilrdtfses cirisqnerr kmkdllggle vdldslttte dsvkkrivva
     2161 ardnwanyfs rffpvsgesg sdvqllavsh rglrllkvtq gpglrpdqlk ilcsysfaev
     2221 lgvecrggst lelslkseql vlhtararai ealvelflne lkkdsgyvia lrsyitdncs
     2281 llsfhrgdli kllpvatlep gwqfgsaggr sglfpadivq paaapdfsfs keqrsgwhkg
     2341 qlsngepgla rwdraserpa hpwsqahsdd seatslssva yaflpdshsy tmqefarryf
     2401 rrsqallgqt dggaagkdtd slvqytkapi qesllslsdd vsklavasfl almrfmgdqs
     2461 kprgkdemdl lyellklcqq eklrdeiycq vikqvtghpr pehctrgwsf lslltgffpp
     2521 strlmpyltk flqdsgpsqe larssqehlq rtvkyggrrr mpppertsds pasyspaggc
     2581 gl
//
LOCUS       XP_054173374             808 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-XIX isoform X18 [Homo sapiens].
ACCESSION   XP_054173374
VERSION     XP_054173374.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317399.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..808
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..808
                     /product="unconventional myosin-XIX isoform X18"
                     /calculated_mol_wt=90670
     CDS             1..808
                     /gene="MYO19"
                     /gene_synonym="MYOHD1"
                     /coded_by="XM_054317399.1:93..2519"
                     /db_xref="GeneID:80179"
                     /db_xref="HGNC:HGNC:26234"
                     /db_xref="MIM:617379"
ORIGIN      
        1 mdvslpnevl ccgghltcil gepqdcredr tedpelqpch gsfwaqqmtg aavqtyllek
       61 trvacqasse rnfhifyqic kgasederlq whlpegaafs wlpnpersle edcfevtrea
      121 mlhlgidtpt qnnifkvlag llhlgniqfa asedeaqpcq pmddakysvr taasllglpe
      181 dvllemvqir tiragrqqqv frkpcaraec dtrrdclakl iyarlfdwlv svinssicad
      241 tdswttfigl ldvygfesfp dnsleqlcin yaneklqqhf vahylraqqe eyaveglews
      301 finyqdnqpc ldliegspis icslineecr lnrpssaaql qtrietalag spclghnkls
      361 repsfivvhy agpvryhtag lveknkdpip peltrllqqs qdpllmglfp tnpkektqee
      421 ppgqsrapvl tvvskfkasl eqllqvlhst tphyircikp nsqgqaqtfl qeevlsqlea
      481 cglvetihis aagfpirvsh rnfverykll rrlhpctssg pdspypakgl pewcphseea
      541 tlepliqdil htlpvltqaa aitgdsaeam papmhcgrtk vfmtdsmlel lecgrarvle
      601 qcarciqggw rrhrhreqer qwravmliqa airswltrkh iqrlhaaatv ikrawqkwri
      661 rmaclaakel dgveekhfsq apcslstspl qtrlleaiir lwplglvlan tamgvgsfqr
      721 klvvwaclql prgspssytv qtaqdqagvt siralpqgsi kfhcrksplr yadicpepsp
      781 ysitgfnqil lerhrlihvt ssaftglg
//
LOCUS       XP_054177053             130 aa            linear   PRI 20-MAR-2023
DEFINITION  protein NKG7 isoform X1 [Homo sapiens].
ACCESSION   XP_054177053
VERSION     XP_054177053.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321078.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..130
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..130
                     /product="protein NKG7 isoform X1"
                     /calculated_mol_wt=13680
     CDS             1..130
                     /gene="NKG7"
                     /gene_synonym="GIG1; GMP-17; p15-TIA-1"
                     /coded_by="XM_054321078.1:120..512"
                     /db_xref="GeneID:4818"
                     /db_xref="HGNC:HGNC:7830"
                     /db_xref="MIM:606008"
ORIGIN      
        1 melcrslall ggslglmfcl ialstdfwfe avgpthsahs glwptghgdi isghgplvst
       61 taafaaaism vvamavytse rwdqpphpqi qtffswsfyl gwvsailllc tgalslgahc
      121 ggprpgyetl
//
LOCUS       XP_054177093             345 aa            linear   PRI 20-MAR-2023
DEFINITION  neuronal PAS domain-containing protein 1 isoform X10 [Homo
            sapiens].
ACCESSION   XP_054177093
VERSION     XP_054177093.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321118.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..345
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..345
                     /product="neuronal PAS domain-containing protein 1 isoform
                     X10"
                     /calculated_mol_wt=36976
     CDS             1..345
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /coded_by="XM_054321118.1:49..1086"
                     /db_xref="GeneID:4861"
                     /db_xref="HGNC:HGNC:7894"
                     /db_xref="MIM:603346"
ORIGIN      
        1 mtgssvfdyi hpgdhsevle qlglrtptpg pptppsvsss ssssssladt peieasltkv
       61 ppsslvqers ffvrmkstlt krglhvkasg ykvihvtgrl rahalglval ghtlppapla
      121 elplhghmiv frlslgltil acesrvsdhm dlgpselvgr scyqfvhgqd atrirqshvd
      181 lldkgqvmtg yyrwlqragg fvwlqsvatv agsgkspgeh hvlwvshvls qaeggqtpld
      241 afqlpasvac eeasspgpep tdgktegwgh tqalsiflfq srslrrkgsr lpqrrtrppr
      301 pranaskwsp argkpkaprt vatrippatr phrgpsspls sgqgs
//
LOCUS       XP_054177971             525 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 90 isoform X1 [Homo sapiens].
ACCESSION   XP_054177971
VERSION     XP_054177971.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321996.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..525
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..525
                     /product="zinc finger protein 90 isoform X1"
                     /calculated_mol_wt=60055
     CDS             1..525
                     /gene="ZNF90"
                     /gene_synonym="HTF9"
                     /coded_by="XM_054321996.1:128..1705"
                     /db_xref="GeneID:7643"
                     /db_xref="HGNC:HGNC:13165"
                     /db_xref="MIM:603973"
ORIGIN      
        1 mcfhfaqdlc peqslkdsfq kvivtryekr eygnlelkkg cesvdegkvh krgynglnqc
       61 ltatqskvfq cdtyvkvshi fsnsnrhkir dtgkkpfkci ecgkafnqss tlathkkiht
      121 geitckceec gkafnrsshl tshkrihtge krykcedcgk elkysstlta hkrihtgekr
      181 ykcedcgkel kysstltahk rihtgekpyk cdkcgrafis ssilyvhkis hteekpykce
      241 ecgkafklss ilsthkriht gekpykceec gkafrrslvl rthkrihtge kpykcdkcgk
      301 afisssllyk hkishsekkp ykceecgkaf krsstltihk ishteekpyk cqecdkvfkr
      361 ssalsthkii hsgekpykce ecgkafkrss nltthkisht eeklykcqec dkafkyssal
      421 sthkiihsge npykceecgk afkrssvlsk hkiihtgakp ykceecgkaf krssqltshk
      481 ishtgekpyk ceecgkafnl ssdlnthkri higqkayivk nmanl
//
LOCUS       XP_054196224             878 aa            linear   PRI 20-MAR-2023
DEFINITION  adenylate cyclase type 3 isoform X23 [Homo sapiens].
ACCESSION   XP_054196224
VERSION     XP_054196224.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340249.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..878
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..878
                     /product="adenylate cyclase type 3 isoform X23"
                     /calculated_mol_wt=99025
     CDS             1..878
                     /gene="ADCY3"
                     /gene_synonym="AC-III; AC3; BMIQ19"
                     /coded_by="XM_054340249.1:98..2734"
                     /db_xref="GeneID:109"
                     /db_xref="HGNC:HGNC:234"
                     /db_xref="MIM:600291"
ORIGIN      
        1 mlscpecwph reeilanvfl ylcaiavgim syymadrkhr kaflearqsl evkmnleeqs
       61 qqqenlmlsi lpkhvademl kdmkkdesqk dqqqfntmym yrhenvsilf adivgftqls
      121 sacsaqelvk llnelfarfd klaakyhqlr ikilgdcyyc icglpdyred havcsilmgl
      181 amveaisyvr ektktgvdmr vgvhtgtvlg gvlgqkrwqy dvwstdvtva nkmeaggipg
      241 rvhisqstmd clkgefdvep gdggsrcdyl eekgietyli iaskpevkkt atqnglngsa
      301 lpngapassk ssspalietk epngsahssg stsekpeeqd aqadnpsfpn prrrlrlqdl
      361 adrvvdased ehelnqllne alleresaqv vkkrntflls mrfmdpemet rysvekekqs
      421 gaafscscvv llctalveil idpwlmtnyv tfmvgeilll ilticslaai fprafpkklv
      481 afstwidrtr warntwamla ifilvmanvv dmvshmvklt lmllvagava tinlyawrpv
      541 fdeydhkrfr ehdlpmvale qmqgfnpgln gtdrlplvps kysmtvmvfl mmlsfyyfsr
      601 hveklartlf lwkievhdqk ervyemrrwn ealvtnmlpe hvarhflgsk krdeelysqt
      661 ydeigvmfas lpnfadfyte esinnggiec lrflneiisd fdslldnpkf rvitkiktig
      721 stymaasgvt pdvntngfas snkedksere rwqhladlad falamkdtlt ninnqsfnnf
      781 mlrigmnkgg vlagvigark phydiwgntv nvasrmestg vmgniqvcpv aqlaraqtrh
      841 enktgtvlsh vplpptlaln sksrgrdvgq veknlcns
//
LOCUS       XP_054197916             284 aa            linear   PRI 20-MAR-2023
DEFINITION  potassium channel subfamily K member 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054197916
VERSION     XP_054197916.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341941.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..284
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..284
                     /product="potassium channel subfamily K member 3 isoform
                     X1"
                     /calculated_mol_wt=30926
     CDS             1..284
                     /gene="KCNK3"
                     /gene_synonym="K2p3.1; OAT1; PPH4; TASK; TASK-1; TASK1;
                     TBAK1"
                     /coded_by="XM_054341941.1:228..1082"
                     /db_xref="GeneID:3777"
                     /db_xref="HGNC:HGNC:6278"
                     /db_xref="MIM:603220"
ORIGIN      
        1 mfyallgipl tlvmfqslge rintlvryll hrakkglgmr radvsmanmv ligffscist
       61 lcigaaafsh yehwtffqay yycfitltti gfgdyvalqk dqalqtqpqy vafsfvyilt
      121 gltvigafln lvvlrfmtmn aedekrdaeh ralltrngqa gggggggsah ttdtasstaa
      181 aggggfrnvy aevlhfqsmc sclwyksrek lqysipmiip rdlstsdtcv eqshsspggg
      241 grysdtpsrr clcsgaprsa issvstglhs lstfrglmkr rssv
//
LOCUS       XP_054198659             329 aa            linear   PRI 20-MAR-2023
DEFINITION  protein phosphatase 1B isoform X4 [Homo sapiens].
ACCESSION   XP_054198659
VERSION     XP_054198659.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342684.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..329
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..329
                     /product="protein phosphatase 1B isoform X4"
                     /calculated_mol_wt=36410
     CDS             1..329
                     /gene="PPM1B"
                     /gene_synonym="PP2C-beta; PP2C-beta-X; PP2CB; PP2CBETA;
                     PPC2BETAX"
                     /coded_by="XM_054342684.1:424..1413"
                     /db_xref="GeneID:5495"
                     /db_xref="HGNC:HGNC:9276"
                     /db_xref="MIM:603770"
ORIGIN      
        1 mgafldkpkt ekhnahgagn glryglssmq gwrvemedah tavvgiphgl edwsffavyd
       61 ghagsrvany csthllehit tnedfraagk sgsalelsve nvkngirtgf lkideymrnf
      121 sdlrngmdrs gstavgvmis pkhiyfincg dsravlyrng qvcfstqdhk pcnprekeri
      181 qnaggsvmiq rvngslavsr algdydykcv dgkgpteqlv spepevyeil raeedefiil
      241 acdgiwdvms neelceyvks rlevsddlen vcnwvvdtcl hkgsrdnmsi vlvcfsnapk
      301 vsdeavkkds eldkhlesrv eglnafesq
//
LOCUS       XP_054199401             272 aa            linear   PRI 20-MAR-2023
DEFINITION  28S ribosomal protein S9, mitochondrial isoform X1 [Homo sapiens].
ACCESSION   XP_054199401
VERSION     XP_054199401.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343426.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..272
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..272
                     /product="28S ribosomal protein S9, mitochondrial isoform
                     X1"
                     /calculated_mol_wt=31552
     CDS             1..272
                     /gene="MRPS9"
                     /gene_synonym="MRP-S9; RPMS9; S9mt"
                     /coded_by="XM_054343426.1:310..1128"
                     /db_xref="GeneID:64965"
                     /db_xref="HGNC:HGNC:14501"
                     /db_xref="MIM:611975"
ORIGIN      
        1 mkhpeqifpr qraiqwgedg rpfhylfytg kqsyyslmhd vygmllnlek hqshlqaksl
       61 lpektvtrdv igsrwlikee leemlvekls dldymqfirl leklltsqcg aaeeefvqrf
      121 rrsvtleskk qliepvqyde qgmafskseg krktakaeai vykhgsgrik vngidyqlyf
      181 pitqdreqlm fpfhfvdrlg khdvtctvsg ggrsaqagai rlamakalcs fvtedevewm
      241 rqagllttdp rvrerkkpgq egarrkftwk kr
//
LOCUS       XP_054199424             300 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-dependent kinase 15 isoform X5 [Homo sapiens].
ACCESSION   XP_054199424
VERSION     XP_054199424.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343449.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..300
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..300
                     /product="cyclin-dependent kinase 15 isoform X5"
                     /calculated_mol_wt=34008
     CDS             1..300
                     /gene="CDK15"
                     /gene_synonym="ALS2CR7; PFTAIRE2; PFTK2"
                     /coded_by="XM_054343449.1:231..1133"
                     /db_xref="GeneID:65061"
                     /db_xref="HGNC:HGNC:14434"
                     /db_xref="MIM:616147"
ORIGIN      
        1 mnaeegvpft aireasllkg lkhanivllh diihtketlt fvfeymhtdl aqymsqhpgg
       61 lhphnvrlfm fqllrglayi hhqhvlhrdl kpqnllishl gelkladfgl araksipsqt
      121 yssevvtlwy rppdallgat eysseldiwg agcifiemfq gqplfpgvsn ileqlekiwe
      181 vlgvptedtw pgvsklpnyn pewfplptpr slhvvwnrlg rvpeaedlas qmlkgfprdr
      241 vsaqealvhd yfsalpsqly qlpdeeslft vsgvrlkpem cdllasyqkg hhpaqfskcw
//
LOCUS       XP_047302968             109 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-dependent kinase 2-associated protein 2-like [Homo sapiens].
ACCESSION   XP_047302968
VERSION     XP_047302968.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047447012.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..109
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..109
                     /product="cyclin-dependent kinase 2-associated protein
                     2-like"
                     /calculated_mol_wt=10894
     Region          <73..108
                     /region_name="CDK2AP"
                     /note="Cyclin-dependent kinase 2-associated protein;
                     pfam09806"
                     /db_xref="CDD:430840"
     CDS             1..109
                     /gene="LOC124908165"
                     /coded_by="XM_047447012.1:1059..1388"
                     /db_xref="GeneID:124908165"
ORIGIN      
        1 msykpttpap sstpgsstpg pgtlvptgsv pspsgsglga tapfrplfkd fgpptigcvq
       61 amkppgaqgs qstytelllv tgemgkvirp tyagsksaae rlkrgiihp
//
LOCUS       XP_054209479             467 aa            linear   PRI 20-MAR-2023
DEFINITION  palmitoyltransferase ZDHHC11 isoform X3 [Homo sapiens].
ACCESSION   XP_054209479
VERSION     XP_054209479.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353504.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..467
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..467
                     /product="palmitoyltransferase ZDHHC11 isoform X3"
                     /calculated_mol_wt=51587
     CDS             1..467
                     /gene="ZDHHC11"
                     /gene_synonym="ZNF399"
                     /coded_by="XM_054353504.1:1595..2998"
                     /db_xref="GeneID:79844"
                     /db_xref="HGNC:HGNC:19158"
ORIGIN      
        1 mdtrsgsqcs vtpeailnne klvlpprisr vngwslplhy fqvvtwavfv glssatfgif
       61 ipflphawky iayvvtggif sfhlvvhlia scidpadsnv rlmknysqpm plfdrskhah
      121 viqnqfchlc kvtvpqhppp ashslldals pgrtglvppr hlassdgpla lpqpahlgpd
      181 rrspihpsrn kktkhciscn kcvsgfdhhc kwinncvgsr nywfffstva satagmlcli
      241 aillyvlvqy lvnpgvlrtd pryedvknmn twllflplfp vqvqtlivvi igmlvllldf
      301 lglvhlgqll ifhiylkakk mttfeylinn rkeesskhqa vrkdpyvqmd kgvlqqgaga
      361 lgssaqgvka kssllihkhl chfctsvnqd gdstaregde dpcpsalgak arnsrlicrr
      421 lcqfstrvhp dggsmaqead dapsistlgl qqettepmkt dsaesed
//
LOCUS       XP_054210880            8793 aa            linear   PRI 20-MAR-2023
DEFINITION  nesprin-1 isoform X23 [Homo sapiens].
ACCESSION   XP_054210880
VERSION     XP_054210880.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354905.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8793
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..8793
                     /product="nesprin-1 isoform X23"
                     /calculated_mol_wt=1010237
     CDS             1..8793
                     /gene="SYNE1"
                     /gene_synonym="8B; AMC3; AMCM; ARCA1; C6orf98; CPG2;
                     dJ45H2.2; EDMD4; KASH1; MYNE1; Nesp1; SCAR8"
                     /coded_by="XM_054354905.1:535..26916"
                     /db_xref="GeneID:23345"
                     /db_xref="HGNC:HGNC:17089"
                     /db_xref="MIM:608441"
ORIGIN      
        1 matsrgasrc prdianvmqr lqdeqeivqk rtftkwinsh lakrkppmvv ddlfedmkdg
       61 vkllallevl sgqklpceqg rrmkrihava nigtalkfle grksmhrgsp iklvninstd
      121 iadgrpsivl glmwtiilyf qieeltsnlp qlqslsssas svdsivsset psppskrkvt
      181 tkiqgnakka llkwvqytag kqtgievkdf gkswrsgvaf hsvihairpe lvdletvkgr
      241 snrenledaf tiaetelgip rlldpedvdv dkpdeksimt yvaqflkhyp dihnastdgq
      301 eddeilpgfp sfansvqnfk redrvifkem kvwieqferd ltraqmvesn lqdkyqsfkh
      361 frvqyemkrk qiehliqplh rdgklsldqa lvkqswdrvt srlfdwhiql dkslpaplgt
      421 igawlyraev alreeitvqq vheetantiq rkleqhkdll qntdahkraf heiyrtrsvn
      481 gipvppdqle dmaerfhfvs stselhlmkm eflelkyrll sllvlaeskl kswiikygrr
      541 esveqllqny vsfienskff eqyevtyqil kqtaemyvka dgsveeaenv mkfmnettaq
      601 wrnlsvevrs vrsmleevis nwdrygntva slqawledae kmlnqsenak kdffrnlphw
      661 iqqhtamnda gnflietcde mvsrdlkqql lllngrwrel fmevkqyaqa demdrmkkey
      721 tdcvvtlsaf ateahkklse plevsfmnvk lliqdledie qrvpvmdaqy kiitktahli
      781 tkespqeegk emfatmsklk eqltkvkecy spllyesqql lipleelekq mtsfydslgk
      841 ineiitvlec eaqssalfkq khqsmvkktg dwkkhvetns rlmkkfeesr aelekvlria
      901 qegleekgdp eellrrhtef fsqldqrvln aflkacdelt dilpeqeqqg lqeavrklhk
      961 qwkdlqgeap yhllhlkidv eknrflasae ecrteldret klmpqegsek iikehrvffs
     1021 dkgphhlcek rlqlieelcv klpvrdpvrd tpgtchvtlk elraaidsty rklmedpdkw
     1081 kdytsrfsef sswistnetq lkgikgeaid tanhgevkra veeirngvtk rgetlswlks
     1141 rlkvltevss eneaqkqgde laklsssfka lvtllsevek mlsnfgdcvq ykeivknsle
     1201 elisgskevq eqaekildte nlfeaqqlll hhqqktkris akkrdvqqqi aqaqqgeggl
     1261 pdrgheelrk lestldgler srerqerriq vtlrkwerfe tnketvvryl fqtgssherf
     1321 lsfsslesls seleqtkefs krtesiavqa enlvkeasei plgpqnkqll qqqaksikeq
     1381 vkkledtlee diktmemvkt kwdhfgsnfe tlsvwiteke kelnaletss samdmqisqi
     1441 kvtiqeiesk lssivgleee aqsfaqfvtt gesarikakl tqirrygeel rehaqclegt
     1501 ilghlsqqqk feenlrkiqq svsefedkla vpikicssat etykvlqehm dlcqalesls
     1561 saitafsasa rkvvnrdscv qeaaalqqqy edilrraker qtalenllah wqrlekelss
     1621 fltwlergea kasspemdis adrvkvegel qliqalqnev vsqasfyskl lqlkeslfsv
     1681 askddvkmmk lhleqlderw rdlpqiinkr inflqsvvae hqqfdellls fsvwiklfls
     1741 elqttseisi mdhqvaltrh kdhaaevesk kgelqslqgh laklgslgra edlhllqgka
     1801 edcfqlfeea sqvverrqla lshlaeflqs haslsgilrq lrqtveatns mnknesdlie
     1861 kdlndalqna kalesaavsl dgilskaqyh lkigsseqrt scratadqlc geveriqnll
     1921 gtkqseadal avlkkafqdq keellksied ieertdkerl keptrqalqq rlrvfnqled
     1981 elnshehelc wlkdkakqia qkdvafapev dreinrlevt wddtkrlihe nqgqccglid
     2041 lmreyqnlks avskvlenas svivtrttik dqedlkwafs khetaknkmn ykqkdldnft
     2101 skgkhllsel kkihssdfsl vktdmestvd kwldvsekle enmdrlrvsl siwddvlstr
     2161 deiegwsnnc vpqmaenisn ldnhlraeel lkefesevkn kalrleelhs kvndlkeltk
     2221 nletppdlqf ieadlmqkle hakeitevak gtlkdftaqs tqvekfindi ttwftkvees
     2281 lmncaqnetc ealkkvkdiq kelqsqqsni sstqenlnsl crkyhsaele slgramtgli
     2341 kkheavsqlc sktqaslqes lekhfsesmq efqewflgak aaakessdrt gdskvleakl
     2401 hdlqnildsv sdgqskldav tqegqtlyah lskqivssiq eqitkaneef qaflkqclkd
     2461 kqalqdcase lgsfedqhrk lnlwihemee rfntenlges kqhipekkne vhkvemflge
     2521 llaaresldk lsqrgqllse eghgagqegr lcsqlltshq nllrmtkekl rscqvalqeh
     2581 ealeealqsm wfwvkaiqdr lacaestlgs kdtlekrlsq iqdillmkge gevklnmaig
     2641 kgeqalrssn kegqrviqtq letlkevwad imsssvhaqs tlesvisqwn dyverknqle
     2701 qwmesvdqki ehplqpqpgl kekfvlldhl qsilseaedh tralhrlivk srelyekted
     2761 esfkdtaqee lktqfndimt vakekmrkve eivkdhlmyl davheftdwl hsakeelhrw
     2821 sdmsgdssat qkklskikel idsreigasr lsrveslape vkqnttasgc elmhtemqal
     2881 radwkqweds vfqtqsclen lvsqmalseq efsgqvaqle qaleqfsall ktwaqqltll
     2941 egkntdeeiv ecwhkgqeil dalqkaeprt edlksqlnel crfsrdlsty sgkvsglike
     3001 ynclclqask gcqnkeqilq qrfrkafrdf qqwlvnakit takcfdipqn isevstslqk
     3061 iqeflsesen gqhklnmmls kgellstllt kekakgiqak vtaakedwkn fhsnlhqkes
     3121 alenlkiqmk dfevsaepiq dwlsktekmv hessnrlydl pakrreqqkl qsvleeihcy
     3181 epqlnrlkek aqqlwegqaa sksfrhrvsq lssqylalsn ltkekvsrld rivaehnqfs
     3241 lgikelqdwm tdaihmldsy chptsdksvl dsrtlkleal lsvkqekeiq mkmivtrges
     3301 vlqntspegi ptiqqqlqsv kdmwasllsa gircksqleg alskwtsyqd gvrqfsgwmd
     3361 smeanlnese rqhaelrdkt tmlgkaklln eevlsyssll etievkgagm tehyvtqlel
     3421 qdlqeryrai qerakeavtk seklvrlhqe yqrdlkafev wlgqeqekld qysvlegdah
     3481 thettlrdlq elqvhcaegq allnsvlhtr edvipsgipq aedraleslr qdwqayqhrl
     3541 setrtqfnnv vnklrlmeqk fqqvdewlkt aeekvsprtr rqsnratkei qlhqmkkwhe
     3601 evtayrdeve evgaraqeil deshvnsrmg cqatqltsry qalllqvleq ikfleeeiqs
     3661 leesesslss ysdwygsthk nfknvatkid kvdtvmmgkk lktlevllkd mekghsllks
     3721 arekgeravk yleegeaerl rkeihdhmeq lkeltstvrk ehmtlekglh lakefsdkck
     3781 altqwiaeyq eilhvpeepk melyekkaql skykslqqtv lshepsvksv rekgeallel
     3841 vqdvtlkdki dqlqsdyqdl csigkehvfs leakvkdhed ynselqevek wllqmsgrlv
     3901 apdlletssl etitqqlahh kammeeiagf edrlnnlqmk gdtligqcad hlqaklkqnv
     3961 hahlqgtkds ysaicstaqr myqslehelq khvsrqdtlq qcqawlsavq pdlepspqpp
     4021 lsraeaikqv khfralqeqa rtyldllcsm cdlsnasvkt takdiqqteq tieqklvqaq
     4081 nltqgweeik hlkselwiyl qdadqqlqnm krrhseleln iaqnmvsqvk dfvkklqskq
     4141 asvntiiekv nkltkkeesp ehkeinhlnd qwldlcrqsn nlclqreedl qrtrdyhdcm
     4201 nvvevflekf ttewdnlars daestavhle alkklalalq erkyaiedlk dqkqkmiehl
     4261 nlddkelvke qtshleqrwf qledlikrki qvsvtnleel nvvqsrfqel mewaeeqqpn
     4321 iaealkqspp pdmaqnllmd hlaicselea kqmllkslik dadrvmadlg lnerqviqka
     4381 lsdaqshvnc lsdlvgqrrk ylnkalsekt qflmavfqat sqiqqherki mfrehicllp
     4441 ddvskqvktc ksaqaslkty qnevtglwaq grelmkevte qeksevlgkl qelqsvydsv
     4501 lqkcshrlqe leknlvsrkh fkedfdkach wlkqadivtf peinlmness elhtqlakyq
     4561 nileqspeye nllltlqrtg qtilpslnev dhsylsekln alprqfnviv alakdkfykv
     4621 qeailarkey aslielttqs lseleaqflr mskvptdlav eealslqdgc raildevagl
     4681 geavdelnqk kegfrstgqp wqpdkmlhlv tlyhrlkrqt eqrvslledt tsayqehekm
     4741 cqqlerqlks vkeeqskvne etlpaeeklk myhslagslq dsgivlkrvt ihledlaphl
     4801 dplayekarh qiqswqgelk lltsaigetv tecesrmvqs idfqtemsrs ldwlrrvkae
     4861 lsgpvyldln lqdiqeeirk iqihqeevqs slrimnalsh kekekftkak elisadlehs
     4921 laelseldgd iqealrtrqa tlteiysqcq ryyqvfqaan dwledaqell qlagngldve
     4981 saeenlkshm effstedqfh snleelhslv atldplikpt gkedleqkva slelrsqrms
     5041 rdsgaqvdll qrctaqwhdy qkareeviel mndtekklse fsllktsssh eaeeklsehk
     5101 alvsvvnsfh ekivaleeka sqlektgnda skatlsrsmt tvwqrwtrlr avaqdqekil
     5161 edavdewtgf nnkvkkatem idqlqdklpg ssaekaskae lltlleyhdt fvleleqqqs
     5221 algmlrqqtl smlqdgaapt pgeepplmqe itamqdrcln mqekvktngk lvkqelkdre
     5281 mvetqinsvk cwvqetkeyl gnptieidaq leelqillte atnhrqniek maeeqkekyl
     5341 glytilpsel slqlaevald lkirdqiqdk ikeveqskat sqelsrqiqk lakdlttilt
     5401 klkaktdnvv qaktdqkvlg eeldgcnskl meldaavqkf leqngqlgkp lakkigklte
     5461 lhqqtirqae nrlsklnqaa shleeyneml elilkwieka kvlahgtiaw nsasqlreqy
     5521 ilhqtllees keidseleam teklqyltsv yctekmsqqv aelgreteel rqmikirlqn
     5581 lqdaakdmkk feaelkklqa aleqaqatlt spevgrlslk eqlshrqhll semeslkpkv
     5641 qavqlcqsal ripedvvasl plchaalrlq eeasrlqhta iqqcnimqea vvqyeqyeqe
     5701 mkhlqqlieg ahreiedkpv atsniqelqa qisrheelaq kikgyqeqia slnskckmlt
     5761 mkakhatmll tvteveglae gtedldgell ptpsahpsvv mmtagrchtl lspvteesge
     5821 egtnseissp pacrspspva ntdasvnqdi ayyqalsaer lqtdaakihp stsasqefye
     5881 pglepsatak lgdlqrswet lknvisekqr tlyealerqq kyqdslqsis tkmeaielkl
     5941 sespepgrsp esqmaehqsf lqalmdeilm lqdeinelqs slaeelvses ceadpaeqla
     6001 lqstltvlae rmstirmkas gkrqlleekl ndqleeqrqe qalqryrcea deldswllst
     6061 katldtalsp pkepmdmeaq lmdcqnmlve ieqkvvalse lsvhnenlll egkahtkdea
     6121 eqlagklrrl kgsllelqra lhdkqlnmqq gtaqekeesd vdltatqspg vqewlaqart
     6181 twtqqrqssl qqqkeleqel aeqksllrsv asrgeeiliq hsaaetsgda gekpdvlsqe
     6241 lgmegekssa edqmrmkwes lhqefstkqk llqnvleqeq eqvlysrpnr llsgvplykg
     6301 dvptqdksav tslldglnqa feevssqsgg akrqsihleq klydgvsats twlddveerl
     6361 fvatallpee tetclfnqei lakdikemse emdknknlfs qafpengdnr dviedtlgcl
     6421 lgrlslldsv vnqrchqmke rlqqilnfqn dlkvlftsla dnkyiilqkl anvfeqpvae
     6481 qieaiqqaed glkefdagii elkrrgdklq veqpsmqels klqdmydelm miigsrrsgl
     6541 nqnltlksqy eralqdladl letgqekmag dqkiivsske eiqqlldkhk eyfqgleshm
     6601 iltetlfrki isfavqketq fhtelmaqas avlkrahkrg veleyiletw shldedqqel
     6661 srqlevvess ipsvglveen edrlidritl yqhlksslne yqpklyqvld dgkrllisis
     6721 csdlesqlnq lgecwlsntn kmskelhrle tilkhwtryq sesadlihwl qsakdrlefw
     6781 tqqsvtvpqe lemvrdhlna flefskevda qsslkssvls tgnqllrlkk vdtatlrsel
     6841 sridsqwtdl ltnipavqek lhqlqmdklp srhaisevms wislmenviq kdedniknsi
     6901 gykaiheylq kykgfkidin ckqltvdfvn qsvlqissqd veskrsdktd faeqlgamnk
     6961 swqilqglvt ekiqllegll eswseyennv qclktwfetq ekrlkqqhri gdqasvqnal
     7021 kdcqdledli kakekeveki eqnglaliqn kkedvssivm stlrelgqtw anldhmvgql
     7081 killksvldq wsshkvafdk insylmeary slsrfrlltg sleavqvqvd nlqnlqddle
     7141 kqerslqkfg sitnqllkec hppvtetltn tlkevnmrwn nlleeiaeql qsskallqlw
     7201 qrykdyskqc astvqqqedr tnellkaatn kdiaddevat wiqdcndllk glgtvkdslf
     7261 vlhelgeqlk qqvdasaasa iqsdqlslsq hlcaleqalc kqqtslqagv ldyetfaksl
     7321 ealeawivea eeilqgqdps hssdlstiqe rmeelkgqml kfssmapdld rlnelgyrlp
     7381 lndkeikrmq nlnrhwslis sqtterfskl qsfllqhqtf lekcetwmef lvqteqklav
     7441 eisgnyqhll eqqrahelfq aemfsrqqil hsiiidgqrl leqgqvddrd efnlkltlls
     7501 nqwqgvirra qqrrgiidsq irqwqryrem aeklrkwlve vsylpmsglg svpiplqqar
     7561 tlfdevqfke kvflrqqgsy iltveagkql llsadsgaea alqaelaeiq ekwksasmrl
     7621 eeqkkklafl lkdwekcekg iadsleklrt fkkklsqslp dhheelhaeq mrckelenav
     7681 gswtddltql sllkdtlsay isaddisiln ervellqrqw eelchqlslr rqqigerlne
     7741 wavfseknke lcewltqmes kvsqngdili eemieklkkd yqeeiaiaqe nkiqlqqmge
     7801 rlakashesk aseieyklgk vndrwqhlld liaarvkklk etlvavqqld knmsslrtwl
     7861 ahieselakp ivydscnsee iqrklneqqe lqrdiekhst gvasvlnlce vllhdcdaca
     7921 tdaecdsiqq atrnldrrwr nicamsmerr lkieetwrlw qkflddysrf edwlkssert
     7981 aafpsssgvi ytvakeelkk feafqrqvhe cltqlelink qyrrlarenr tdsacslkqm
     8041 vhegnqrwdn lqkrvtsilr rlkhfigqre efetardsil vwltemdlql tniehfsecd
     8101 vqakikqlka fqqeislnhn kieqiiaqge qlieksepld aaiieeelde lrrycqevfg
     8161 rveryhkkli rlplpddehd lsdreleled saalsdlhwh drsadsllsp qpssnlslsl
     8221 aqplrsersg rdtpasvdsi plewdhdydl srdlesamsr alpsedeegq ddkdfylrga
     8281 vglsdvmipe speayvklte naikntsgdh salesqirql gkalddsrfq iqqteniirs
     8341 ktptgpeldt sykgymkllg ecsssidsvk rlehklkeee eslpgfvnlh stetqtagvi
     8401 drwellqaqa lskelrmkqn lqkwqqfnsd lnsiwawlgd teeeleqlqr lelstdiqti
     8461 elqikklkel qkavdhrkai ilsinlcspe ftqadskesr dlqdrlsqmn grwdrvcsll
     8521 eewrgllqda lmqcqiftgq vgrpflnikg fhemshglll mlenidrrkn eivpidsnld
     8581 aeilqdhhkq lmqikhelle sqlrvaslqd mscqllvnae gtdcleakek vhvignrlkl
     8641 llkevsrhik eleklldvss sqqdlsswss adeldtsgsv sptsgrstpn rqktprgkcs
     8701 lsqpgpsvss phsrstkggs dsslsepgpg rsgrgflfrv lraalplqll lllliglacl
     8761 vpmseedysc alsnnfarsf hpmlrytngp ppl
//
LOCUS       XP_054219183            1074 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleolar protein 8 isoform X3 [Homo sapiens].
ACCESSION   XP_054219183
VERSION     XP_054219183.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363208.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1074
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1074
                     /product="nucleolar protein 8 isoform X3"
                     /calculated_mol_wt=120300
     CDS             1..1074
                     /gene="NOL8"
                     /gene_synonym="bA62C3.3; bA62C3.4; C9orf34; NOP132"
                     /coded_by="XM_054363208.1:94..3318"
                     /db_xref="GeneID:55035"
                     /db_xref="HGNC:HGNC:23387"
                     /db_xref="MIM:611534"
ORIGIN      
        1 mkvnretkrl yvgglsqdis eadlqnqfsr fgevsdveii trkddqgnpq kvfayinisv
       61 aeadlkkcms vlnktkwkgg tlqiqlakes flhrlaqere aakakkeest tgnanllekt
      121 ggvdfhmkav pgtevpghkn wvvskfgrvl pvlhlknqhk rkiikydpsk ychnlkkige
      181 dfsntipiss ltweleggnd pmskkrrgef sdfhgppkki ikvqkdesst gslamstrpr
      241 rvierppltq qqaaqkrtcd sitpsksspv pvsdtqklkn lpfktsglet akkrnsisdd
      301 dtdsedelrm miakeenlqr ttqpsinese sdpfevvrdd fksgvhklhs liglgiknrv
      361 schdsdddim rndreydsgd tdeiiamkkn vakvknstef sqmekstkkt sfknrencel
      421 sdhciklqkr ksnvesalsh glkslnrksp shssssedad saseladseg geeynammkn
      481 clrvnltlad leqlagsdlk vpnedtksdg petttqckfd rgskspktpt glrrgrqcir
      541 paeivaslle geentcgkqk pkennlkpkf qafkgvgcly ekesmkkslk dsvasnnkdq
      601 nsmkhedpsi ismedgspyv ngslgevtpc qhakkangpn yiqpqkrqtt fesqdrkavs
      661 psssekrskn pisrplegkk slslsakthn igfdkdschs ttkteasqee rsdssgltsl
      721 kkspkvsskd treiktdfsl sisnssdvsa kdkhaednek rlaalearqk akevqkklvh
      781 nalanldghp edkpthiifg sdseceteet stqeqshpge ewvkesmgkt sgklfdssdd
      841 desdseddsn rfkikpqfeg ragqklmdlq shfgtddrfr mdsrfletds eeeqeevnek
      901 ktaeeeelae ekkkalnvvq svlqinlsns tnrgsvaakk fkdiihydpt kqdhatyerk
      961 rddkpkeska krkkkreeae klpevskemy yniamdlkei fqttkytsek eegtpwnedc
     1021 gkekpeeiqd paaltsdaeq psgftfsffd sdtkdikees lsprlecsga isvh
//
LOCUS       XP_054219221            1427 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF27 isoform X1 [Homo sapiens].
ACCESSION   XP_054219221
VERSION     XP_054219221.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363246.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1427
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1427
                     /product="kinesin-like protein KIF27 isoform X1"
                     /calculated_mol_wt=163079
     CDS             1..1427
                     /gene="KIF27"
                     /coded_by="XM_054363246.1:425..4708"
                     /db_xref="GeneID:55582"
                     /db_xref="HGNC:HGNC:18632"
                     /db_xref="MIM:611253"
ORIGIN      
        1 meeipvkvav rirpllckea lhnhqvcvrv ipnsqqviig rdrvftfdfv fgknstqdev
       61 yntcikplvl sliegynatv faygqtgsgk tytiggghia svvegqkgii praiqeifqs
      121 isehpsidfn vkvsyievyk edlrdllele tsmkdlhire dekgntvivg akechvesag
      181 evmsllemgn aarhtgttqm nehssrshai ftisicqvhk nmeaaedgsw ysprhivskf
      241 hfvdlagser vtktgntger fkesiqinsg llalgnvisa lgdprrkssh ipyrdakitr
      301 llkdslggsa ktvmitcvsp sssnfdesln slkyanrarn irnkptvnfs pesdrideme
      361 feikllreal qsqqagvsqt tqinregspd tnrihsleeq vaqlqgeclg yqccveeaft
      421 flvdlkdtvr lnekqqhklq ewfnmiqevr kavltsfrgi ggtasleegp qhvtvlqlkr
      481 elkkcqcvla adevvfnqke levkelknqv qmmvqenkgh avslkeaqkv nrlqplaktt
      541 llstsmdlpi lnisynwnht nekiieqqll vdqlseeltk lnlsvtssak encgdgpdar
      601 iperrpytvp fdthlghyiy ipsrqdsrkv htsppmysld rifagfrtrs qmllghieeq
      661 dkvlhcqfsd nsddeesegq eksgtrcrsr swiqkpdsvc slvelsdtqd etqksdlene
      721 dlkidclqes qelnlqklkn serilteakq kmreltinik mkedlikeli ktgndaksvs
      781 kqyslkvtkl ehdaeqakve lietqkqlqe lenkdlsdva mkvklqkefr kkmdaaklrv
      841 qvlqkkqqds kklaslsiqn ekraneleqs vdhmkyqkiq lqrklreene krkqldavik
      901 rdqqkikeiq lktgqeeglk pkaedldacn lkrrkgsfgs idhlqkldeq kkwldeevek
      961 vlnqrqelee leadlkkrea ivskkeallq ekshlenkkl rssqalntds lkistrlnll
     1021 eqelseknvq lqtstaeekt kiseqvevlq kekdqlqkrr hnvdeklkng rvlspeeehv
     1081 lfqleegiea leaaieyrne siqnrqkslr asfhnlsrge anvleklacl spveirtilf
     1141 ryfnkvvnlr eaerkqqlyn eemkmkvler dnmvrelesa ldhlklqcdr rltlqqkehe
     1201 qkmqlllhhf keqdgegime tfktyedkiq qlekdlyfyk ktsrdhkkkl kelvgeairr
     1261 qlapseyqea gdgvlkpegg gmlseelkwa srpesmklsg reremdssas slrtqpnpqk
     1321 lwedipelpp ihsslappsg hmlgnenkte tddnqftksh srlssqiqvv gnvgrlhgvt
     1381 pvklcrkelr qisalelslr rsslgvgigs maadsievsr kprdlkt
//
LOCUS       XP_054219287             374 aa            linear   PRI 20-MAR-2023
DEFINITION  endophilin-B2 isoform X7 [Homo sapiens].
ACCESSION   XP_054219287
VERSION     XP_054219287.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363312.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 6% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..374
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..374
                     /product="endophilin-B2 isoform X7"
                     /calculated_mol_wt=41537
     CDS             1..374
                     /gene="SH3GLB2"
                     /gene_synonym="PP6569; PP9455; RRIG1"
                     /coded_by="XM_054363312.1:178..1302"
                     /db_xref="GeneID:56904"
                     /db_xref="HGNC:HGNC:10834"
                     /db_xref="MIM:609288"
ORIGIN      
        1 mdfnmkklas dagifftrav qfteekfgqa ekteldahfe nllaradstk nwtekilrqt
       61 evllqpnpsa rveeflyekl drkvpsrvtn gellaqymad aaselgpttp ygktlikvae
      121 aekqlgaaer dfihtasisf ltplrnfleg dwktiskerr llqnrrldld ackarlkkak
      181 aaeakatlwn devdkaeqel rvaqtefdrq aevtrllleg issthvnhlr clhefvksqt
      241 tyyaqcyrhm ldlqkqlgrf pgtfvgttep aspplsstsp ttaaatmpvv psvaslappg
      301 easlcleeva ppasgtrkar vlydyeaads selalladel itvyslpgmd pdwligergn
      361 kkgkvpvtyl ells
//
LOCUS       XP_054182298            4330 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase HUWE1 isoform X21 [Homo sapiens].
ACCESSION   XP_054182298
VERSION     XP_054182298.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326323.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4330
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..4330
                     /product="E3 ubiquitin-protein ligase HUWE1 isoform X21"
                     /calculated_mol_wt=474609
     CDS             1..4330
                     /gene="HUWE1"
                     /gene_synonym="ARF-BP1; HECTH9; HSPC272; Ib772; LASU1;
                     MRXST; MULE; URE-B1; UREB1"
                     /coded_by="XM_054326323.1:462..13454"
                     /db_xref="GeneID:10075"
                     /db_xref="HGNC:HGNC:30892"
                     /db_xref="MIM:300697"
ORIGIN      
        1 mkvdrtklkk tpteapadcr alidklkvcn deqlllelqq iktwnigkce lyhwvdlldr
       61 fdgiladagq tvenmswmlv cdrpereqlk mlllavlnft allieysfsr hlyssiehlt
      121 tllassdmqv vlavlnllyv fskrsnyitr lgsdkrtpll trlqhlaesw ggkengfgla
      181 eccrdlhmmk yppsattlhf efyadpgaev kiekrttsnt lhyihieqld kisespseim
      241 esltkmysip kdkqmllfth irlahgfsnh rkrlqavqar lhaisilvfv spfavysnal
      301 qesansilyn glieelvdvl qitdkqlmei kaaslrtlts ivhlertpkl ssiidctgta
      361 syhgflpvlv rnciqamidp smdpyphqfa talfsflyhl asydaggeal vscgmmeall
      421 kvikflgdeq dqitfvtrav rvvdlitnld maafqshsgl sifiyrlehe vdlcrkecpf
      481 vikpkiqrpn ttqegeemet dmdvadvame sspgssisme hrldvelras gsssstniss
      541 gpspgpspgp gtgpgpgpgp gpgpgpgpgp gpgpgpgpgp gpgprpgvqc ipqraallks
      601 mlnflkkaiq dpafsdgirh vmdgslptsl khiisnaeyy gpslfllate vvtvfvfqep
      661 sllsslqdng ltdvmlhall ikdvpatrev lgslpnvfsa lclnarglqs fvqcqpferl
      721 fkvllspdyl pamrrrrssd plgdtasnlg savdelmrhq ptlktdatta iiklleeicn
      781 lgrdpkyicq kpsiqkadgt atappprsnh aaeeassede eeeevqamqs fnstqqnete
      841 pnqqvvgtee ripiplmdyi lnvmkfvesi lsnnttddhc qefvnqkgll plvtilglpn
      901 lpidfptsaa cqavagvcks iltlshepkv lqegllqlds ilssleplhr piespggsvl
      961 lrelacagnv adatlsaqat pllhaltaah ayimmfvhtc rvgqseirsi svnqwgsqlg
     1021 lsvlsklsql ycslvwestv llslctpnsl psgcefgqad mqklvpkdek agttqggkrs
     1081 dgeqdgaags mdastqglle gigldgdtla pmetdeptas dskgkskitp amaarikqik
     1141 pllsassrlg ralaelfgll vklcvgspvr qrrshhaast ttaptpaars tasaltkllt
     1201 kglswqpppy tptprfrltf ficsvgftsp mlfderkypy hlmlqkflcs gghnalfetf
     1261 nwalsmggkv pvseglehsd lpdgtgefld awlmlvekmv npttvlesph slpaklpggv
     1321 qnfpqfsalr flvvtqkaaf tciknlwnrk plkvyggrma esmlailchi lrgepvirer
     1381 lskekegsrg eedtgqeegg srrepqvnqq qlqqlmdmgf trehameall ntstmeqate
     1441 yllthpppim ggvvrdlsms eedqmmraia mslgqdipmd qraespeeva crkeeeerka
     1501 rekqeeeeak clekfqdadp leqdelhtft dtmlpgcfhl ldelpdtvyr vcdlimtaik
     1561 rngadyrdmi lkqvvnqvwe aadvlikaal plttsdtktv sewisqmatl pqasnlatri
     1621 llltllfeel klpcawvves sgilnvlikl levvqpclqa akeqkevqtp kwitpvllli
     1681 dfyektaiss krraqmtkyl qsnsnnwrwf ddrsgrwcsy sasnnstids awksgetsvr
     1741 ftagrrrytv qfttmvqvne etgnrrpvml tllrvprlnk nsknsngqel ektleeskem
     1801 dikrkenkgn dtplalestn teketsleet kigeiliqgl tedmvtvlir acvsmlgvpv
     1861 dpdtlhatlr lclrltrdhk yammfaelks trmilnltqs sgfngftplv tlllrhiied
     1921 pctlrhtmek vvrsaatsga gsttsgvvsg slgsreinyi lrvlgpaacr npdiftevan
     1981 ccirialpap rgsgtasdde fenlrikgpn avqlvkttpl kpsplpvipd tikeviydml
     2041 nalaayhape eadksdpkpg vmtqevgqll qdmgddvyqq yrsltrqssd fdtqsgfsin
     2101 sqvfaadgas tetsasgtsq geastpeesr dgkkdkegdr aseegkqkgk gskplmptst
     2161 ilrllaelvr syvgiatlia nysytvgqse likedcsvla fvldhllpht qnaedkdtpa
     2221 larlflasla aagsgtdaqv alvnevkaal gralamaest ekharlqavm ciistimesc
     2281 pstssfyssa taktqhngmn niirlflkkg lvndlarvph sldlsspnma ntvnaalkpl
     2341 etlsrivnqp sslfgsksas sknkseqdaq gasqdsssnq qdpgepgeae vqeedhdvtq
     2401 tevadgdimd geaetdsvvi agqpevlssq emqveneled lidellerdg gsgnstiiad
     2461 ippspgnipt thplmvrhad hssltlgsgs sttrltqgig rsqrtlrqlt antghtihvh
     2521 ypgnrqpnpp lilqrllgps aaadilqlss slplqsrgra rllvgnddvh iiarsddell
     2581 ddffhdqsta tsqagtlssi ptaltrwtee ckvldaesmh dcvsvvkvsi vnhleflrde
     2641 eleerrekrr kqlaeeetki tdkgkedken rdqsaqctas ksndsteqnl sdgtpmpdsy
     2701 pttpsstdaa tsesketlgt lqssqqqptl ptppalgevp qelqspageg gsstqllmpv
     2761 epeelgptrp sgeaettqme lspaptitsl speraedsda ltavssqleg spmdtsslas
     2821 ctleeavgdt saagsseqpr agsstpgdap pavaevqgrs dgsgesaqpp edssppasse
     2881 ssstrdsava isgadsrgil eeplpstsse eedplagisl pegvdpsfla alpddirrev
     2941 lqnqlgirpp trtapstnss apavvgnpgv tevspeflaa lppaiqeevl aqqraeqqrr
     3001 elaqnassdt pmdpvtfiqt lpsdlrrsvl edmedsvlav mppdiaaeaq alrreqearq
     3061 rqlmherlfg hsstsalsai lrspaftsrl sgnrgvqytr lavqrggtfq mggssshnrp
     3121 sgsnvdtllr lrgrllldhe alscllvllf vdepklntsr lhrvlrnlcy haqtrhwvir
     3181 sllsilqrss eselcietpk lttseekgkk sskscgsssh enrpldllhk meskssnqls
     3241 wlsvsmdaal gcrtnifqiq rsggrkhtek hasggstvhi hpqaapvvcr hvldtliqla
     3301 kvfpshftqq rtketncesd rergnkacsp cssqssssgi ctdfwdllvk ldnmnvsrkg
     3361 knsvksvpvs aggegetspy sleasplgql mnmlshpvir rsslltekll rllslisial
     3421 penkvseaqa nsgsgasstt tatsttsttt ttaasttptp ptaptpvtsa palvaatais
     3481 tivvaasttv ttpttatttv sispttkgsk spakvsdggs sstdfkmvss gltenqlqls
     3541 vevltshscs eegledaanv llqlsrgdsg trdtvlklll ngarhlgytl ckqigtllae
     3601 lreynleqqr raqcetlspd glpeeqpqtt klkgkmqsrf dmaenvviva sqkrplggre
     3661 lqlpsmsmlt sktstqkffl rvlqviiqlr ddtrrankka kqtgrlgssg lgsassiqaa
     3721 vrqleaeada iiqmvregqr arrqqqaats essqseasvr reespmdvdq pspsaqdtqs
     3781 iasdgtpqge kekeerppel pllseqlsld elwdmlgecl keleeshdqh avlvlqpave
     3841 afflvhater eskppvrdtr esqlahikde ppplspaplt patpssldpf fsrepssmhi
     3901 ssslppdtqk flrfaethrt vlnqilrqst thladgpfav lvdyirvldf dvkrkyfrqe
     3961 lerldeglrk edmavhvrrd hvfedsyrel hrkspeemkn rlyivfegee gqdaggllre
     4021 wymiisremf npmyalfrts pgdrvtytin psshcnpnhl syfkfvgriv akavydnrll
     4081 ecyftrsfyk hilgksvryt dmesedyhfy qglvyllend vstlgydltf stevqefgvc
     4141 evrdlkpnga nilvteenkk eyvhlvcqmr mtgairkqla aflegfyeii pkrlisifte
     4201 qelellisgl ptididdlks nteyhkyqsn siqiqwfwra lrsfdqadra kflqfvtgts
     4261 kvplqgfaal egmngiqkfq ihrddrstdr lpsahtcfnq ldlpayesfe klrhmlllai
     4321 qecsegfgla
//
LOCUS       XP_054182752             682 aa            linear   PRI 20-MAR-2023
DEFINITION  BCLAF1 and THRAP3 family member 3 isoform X3 [Homo sapiens].
ACCESSION   XP_054182752
VERSION     XP_054182752.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326777.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..682
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..682
                     /product="BCLAF1 and THRAP3 family member 3 isoform X3"
                     /calculated_mol_wt=80265
     CDS             1..682
                     /gene="BCLAF3"
                     /gene_synonym="CXorf23"
                     /coded_by="XM_054326777.1:85..2133"
                     /db_xref="GeneID:256643"
                     /db_xref="HGNC:HGNC:27413"
ORIGIN      
        1 marsrsrspr wkhrslspvp rnaehykqrh shghygceyr kdpkrpvawr mdsekhgqsk
       61 pripsrgniy yqsyehrsps pnirnslenv ymykphrgys pgrgdsnrra qympkysegi
      121 pykehernsy pqkvqgghsp ddhrvrgsgk ggkppqrsia dsfrfegkwh edelrhqriq
      181 eekysqstrr gsedfetrss fqkrypedrd frkyghtskr pkdveryesr eparnpkwkp
      241 ehslppyqed tdqwnlgpqt yrhaerehpe tssatkvsyd yrhkrpklld gdqdfsdgrt
      301 qkyckeedrk ysfqkgplnr eldcfntgrg retqdgqvke pfkpskkdsi actysnkndv
      361 dlrssndkwk ekikkegdcr kesnsssnql dksqklpdvk pspinlrkks ltvkvdvkkt
      421 vdtfrvassy sterqmshdl vavgrksenf hpvfehldst qntenkptge faqeiitiih
      481 qvkanyfpsp gitlherfst mqdihkadvn eiplnsdpei hrridmslae lqskqaviye
      541 seqtlikiid pndlrhdier rrkerlqned ehifhiasaa erddqnssfs knyttqrkdi
      601 ithkpfeveg nhrntrvrpf ksnfrggrcq pnyksglvqk slyiqakyqr lrftgprgfi
      661 thkfrerlmr kkkeytdvat gi
//
LOCUS       NP_001362221            1227 aa            linear   PRI 23-MAR-2023
DEFINITION  DNA excision repair protein ERCC-6-like 2 isoform 5 [Homo sapiens].
ACCESSION   NP_001362221
VERSION     NP_001362221.1
DBSOURCE    REFSEQ: accession NM_001375292.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1227)
  AUTHORS   Baccelli F, Leardini D, Cerasi S, Messelodi D, Bertuccio SN and
            Masetti R.
  TITLE     ERCC6L2-related disease: a novel entity of bone marrow failure
            disorder with high risk of clonal evolution
  JOURNAL   Ann Hematol 102 (4), 699-705 (2023)
   PUBMED   36790458
  REMARK    GeneRIF: ERCC6L2-related disease: a novel entity of bone marrow
            failure disorder with high risk of clonal evolution.
            Review article
REFERENCE   2  (residues 1 to 1227)
  AUTHORS   Armes H, Bewicke-Copley F, Rio-Machin A, Di Bella D, Philippe C,
            Wozniak A, Tummala H, Wang J, Ezponda T, Prosper F, Dokal I,
            Vulliamy T, Kilpivaara O, Wartiovaara-Kautto U, Fitzgibbon J and
            Rouault-Pierre K.
  TITLE     Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to
            impaired erythropoiesis and reshaping of the bone marrow
            microenvironment
  JOURNAL   Br J Haematol 199 (5), 754-764 (2022)
   PUBMED   36156210
  REMARK    GeneRIF: Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations
            lead to impaired erythropoiesis and reshaping of the bone marrow
            microenvironment.
REFERENCE   3  (residues 1 to 1227)
  AUTHORS   Ewing AD, Cheetham SW, McGill JJ, Sharkey M, Walker R, West JA,
            West MJ and Summers KM.
  TITLE     Microdeletion of 9q22.3: A patient with minimal deletion size
            associated with a severe phenotype
  JOURNAL   Am J Med Genet A 185 (7), 2070-2083 (2021)
   PUBMED   33960642
  REMARK    GeneRIF: Microdeletion of 9q22.3: A patient with minimal deletion
            size associated with a severe phenotype.
REFERENCE   4  (residues 1 to 1227)
  AUTHORS   Francica P, Mutlu M, Blomen VA, Oliveira C, Nowicka Z, Trenner A,
            Gerhards NM, Bouwman P, Stickel E, Hekkelman ML, Lingg L, Klebic I,
            van de Ven M, de Korte-Grimmerink R, Howald D, Jonkers J, Sartori
            AA, Fendler W, Chapman JR, Brummelkamp T and Rottenberg S.
  TITLE     Functional Radiogenetic Profiling Implicates ERCC6L2 in
            Non-homologous End Joining
  JOURNAL   Cell Rep 32 (8), 108068 (2020)
   PUBMED   32846126
  REMARK    GeneRIF: Functional Radiogenetic Profiling Implicates ERCC6L2 in
            Non-homologous End Joining.
REFERENCE   5  (residues 1 to 1227)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 1227)
  AUTHORS   Shabanova I, Cohen E, Cada M, Vincent A, Cohn RD and Dror Y.
  TITLE     ERCC6L2-associated inherited bone marrow failure syndrome
  JOURNAL   Mol Genet Genomic Med 6 (3), 463-468 (2018)
   PUBMED   29633571
  REMARK    GeneRIF: ERCC6L2-associated disorder has recently been described.
            We identified an additional case through whole-exome sequencing. At
            the age of 9 years, the patient underwent whole exome sequencing
            and was discovered to have a homozygous stop mutation in ERCC6L2
            (NCBI RefSeq NG_034107.1), c.1687C>T (p.Arg563*).
            Review article
REFERENCE   7  (residues 1 to 1227)
  AUTHORS   Jarviaho T, Halt K, Hirvikoski P, Moilanen J, Mottonen M and
            Niinimaki R.
  TITLE     Bone marrow failure syndrome caused by homozygous frameshift
            mutation in the ERCC6L2 gene
  JOURNAL   Clin Genet 93 (2), 392-395 (2018)
   PUBMED   28815563
  REMARK    GeneRIF: We report 2 cases of bone marrow failure with no
            extra-hematopoietic manifestations in patients from unrelated
            families with a homozygous truncating mutation in ERCC6L2. Bone
            marrow failure without developmental delay or microcephaly with
            ERCC6L2 mutation has not been previously described.
REFERENCE   8  (residues 1 to 1227)
  AUTHORS   Zhang S, Pondarre C, Pennarun G, Labussiere-Wallet H, Vera G,
            France B, Chansel M, Rouvet I, Revy P, Lopez B, Soulier J, Bertrand
            P, Callebaut I and de Villartay JP.
  TITLE     A nonsense mutation in the DNA repair factor Hebo causes mild bone
            marrow failure and microcephaly
  JOURNAL   J Exp Med 213 (6), 1011-1028 (2016)
   PUBMED   27185855
  REMARK    GeneRIF: Hebo is ubiquitously expressed, localized in the nucleus,
            and rapidly recruited to DNAdsb's in an NBS1-dependent manner.
REFERENCE   9  (residues 1 to 1227)
  AUTHORS   Tummala H, Kirwan M, Walne AJ, Hossain U, Jackson N, Pondarre C,
            Plagnol V, Vulliamy T and Dokal I.
  TITLE     ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to
            DNA repair and mitochondrial function
  JOURNAL   Am J Hum Genet 94 (2), 246-256 (2014)
   PUBMED   24507776
  REMARK    GeneRIF: These observations identify a distinct bone-marrow-failure
            syndrome due to mutations in ERCC6L2, a gene implicated in DNA
            repair and mitochondrial function.
REFERENCE   10 (residues 1 to 1227)
  AUTHORS   Vaz Meirelles G, Ferreira Lanza DC, da Silva JC, Santana Bernachi
            J, Paes Leme AF and Kobarg J.
  TITLE     Characterization of hNek6 interactome reveals an important role for
            its short N-terminal domain and colocalization with proteins at the
            centrosome
  JOURNAL   J Proteome Res 9 (12), 6298-6316 (2010)
   PUBMED   20873783
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161454.10 and AL159167.23.
            
            Summary: This gene encodes a member of the Snf2 family of
            helicase-like proteins. The encoded protein may play a role in DNA
            repair and mitochondrial function. Mutations in this gene have been
            associated with bone marrow failure syndrome 2. Alternatively
            spliced transcript variants that encode different protein isoforms
            have been described. [provided by RefSeq, Apr 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.73369.1,
                                           SRR14038192.1476688.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142670 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1227
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.32"
     Protein         1..1227
                     /product="DNA excision repair protein ERCC-6-like 2
                     isoform 5"
                     /note="stretch responsive protein 278; putative repair and
                     recombination helicase RAD26L; excision repair
                     cross-complementing rodent repair deficiency,
                     complementation group 6-like 2; DNA repair and
                     recombination protein RAD26-like; excision repair
                     cross-complementation group 6 like 2; DNA excision repair
                     protein ERCC-6-like 2"
                     /calculated_mol_wt=138775
     Region          18..73
                     /region_name="Tudor_ERCC6L2"
                     /note="Tudor domain found in DNA excision repair protein
                     ERCC-6-like 2 (ERCC6L2) and similar proteins; cd20400"
                     /db_xref="CDD:410471"
     Site            order(28,33,35,56,60)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410471"
     Region          <59..651
                     /region_name="HepA"
                     /note="Superfamily II DNA or RNA helicase, SNF2 family
                     [Transcription, Replication, recombination and repair];
                     COG0553"
                     /db_xref="CDD:223627"
     Region          123..371
                     /region_name="DEXHc_ERCC6L2"
                     /note="DEXH-box helicase domain of ERCC6L2; cd18005"
                     /db_xref="CDD:350763"
     Site            order(150..156,215,272..273)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350763"
     Region          <1118..1142
                     /region_name="VIGSSK"
                     /note="Helicase-associated putative binding domain,
                     C-terminal; pfam14773"
                     /db_xref="CDD:434198"
     CDS             1..1227
                     /gene="ERCC6L2"
                     /gene_synonym="BMFS2; C9orf102; HEBO; RAD26L; SR278"
                     /coded_by="NM_001375292.1:349..4032"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:375748"
                     /db_xref="HGNC:HGNC:26922"
                     /db_xref="MIM:615667"
ORIGIN      
        1 mdpsapqpra etsgkdiwhp gerclapspd ngklceasik sitvdengks favvlyadfq
       61 erkiplkqlq evkfvkdcpr nlifddedle kpyfpnrkfp sssvafklsd ngdsipytin
      121 rylrdyqreg trflyghyih gggcilgddm glgktvqvis flaavlhkkg trediennmp
      181 efllrsmkke plsstakkmf livaplsvly nwkdeldtwg yfrvtvlhgn rkdnelirvk
      241 qrkceialtt yetlrlclde lnslewsavi vdeahriknp karvtevmka lkcnvriglt
      301 gtilqnnmke lwcvmdwavp gllgsgtyfk kqfsdpvehg qrhtatkrel atgrkamqrl
      361 akkmsgwflr rtktlikdql pkkedrmvyc sltdfqkavy qtvletedvt lilqssepct
      421 crsgqkrrnc cyktnshget vktlylsylt vlqkvanhva llqaastskq qetlikricd
      481 qvfsrfpdfv qkskdaafet lsdpkysgkm kvlqqllnhc rknrdkvllf sfstklldvl
      541 qqycmasgld yrrldgstks eerlkivkef nstqdvnicl vstmagglgl nfvganvvvl
      601 fdptwnpand lqaidrayri gqcrdvkvlr lislgtveei mylrqiykqq lhcvvvgsen
      661 akryfeavqg skehqgelfg ihnlfkfrsq gscltkdile regqveagim tattwlkegp
      721 pahklemprq pdcqecrgte qaaeplakea cdlcsdfsde epvgatgikt aknkapdssk
      781 assspgqltl lqcgfsklle tkckavedsd gntasddess deqptclste akdagceknq
      841 dslgtskhqk ldnilnpkek hifyksekil eqnissksde kkikntdkhc ilqnvtesed
      901 sdvicptqyt terfpdnsir fkpplegsed setehtvktr nndnsrntdd krngiiskkl
      961 spenttlksi lkrkgtsdis desddieiss ksrvrkrass lrfkriketk kelhnspktm
     1021 nktnqvyaan edhnsqfidd ysssdeslsv shfsfskqsh rprtirdrts fssklpshnk
     1081 knstfiprkp mkcsnekvvn qeqsyesmdk fldgvqevay ihsnqnvigs skaenhmsrw
     1141 aahdvfelkq fsqlpaniav cssktykekv dadtlphtkk gqqpsegsis lplyisnpvn
     1201 qkkkkvyhtn qttfiigetp kgirrsa
//
LOCUS       NP_001121138             742 aa            linear   PRI 23-MAR-2023
DEFINITION  gelsolin isoform c [Homo sapiens].
ACCESSION   NP_001121138
VERSION     NP_001121138.1
DBSOURCE    REFSEQ: accession NM_001127666.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 742)
  AUTHORS   Panagopoulos I, Andersen K, Brunetti M, Gorunova L, Lund-Iversen M,
            Micci F and Heim S.
  TITLE     Fusion of the High-mobility Group AT-Hook 2 (HMGA2) and the
            Gelsolin (GSN) Genes in Lipomas With t(9;12)(q33;q14) Chromosomal
            Translocation
  JOURNAL   In Vivo 37 (2), 524-530 (2023)
   PUBMED   36881074
  REMARK    GeneRIF: Fusion of the High-mobility Group AT-Hook 2 (HMGA2) and
            the Gelsolin (GSN) Genes in Lipomas With t(9;12)(q33;q14)
            Chromosomal Translocation.
REFERENCE   2  (residues 1 to 742)
  AUTHORS   Fabryova H, Kao S, Sukegawa S, Miyagi E, Taylor L, Ferhadian D,
            Saito H, Schaal H, Hillebrand F and Strebel K.
  TITLE     HIV-1 Vpr Induces Degradation of Gelsolin, a Myeloid Cell-Specific
            Host Factor That Reduces Viral Infectivity by Inhibiting the
            Expression and Packaging of the HIV-1 Env Glycoprotein
  JOURNAL   mBio 14 (1), e0297322 (2023)
   PUBMED   36602307
  REMARK    GeneRIF: HIV-1 Vpr Induces Degradation of Gelsolin, a Myeloid
            Cell-Specific Host Factor That Reduces Viral Infectivity by
            Inhibiting the Expression and Packaging of the HIV-1 Env
            Glycoprotein.
REFERENCE   3  (residues 1 to 742)
  AUTHORS   Onuma T, Asare-Werehene M, Yoshida Y and Tsang BK.
  TITLE     Exosomal Plasma Gelsolin Is an Immunosuppressive Mediator in the
            Ovarian Tumor Microenvironment and a Determinant of Chemoresistance
  JOURNAL   Cells 11 (20), 3305 (2022)
   PUBMED   36291171
  REMARK    GeneRIF: Exosomal Plasma Gelsolin Is an Immunosuppressive Mediator
            in the Ovarian Tumor Microenvironment and a Determinant of
            Chemoresistance.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 742)
  AUTHORS   Hsieh CH and Wang YC.
  TITLE     Emerging roles of plasma gelsolin in tumorigenesis and modulating
            the tumor microenvironment
  JOURNAL   Kaohsiung J Med Sci 38 (9), 819-825 (2022)
   PUBMED   35942641
  REMARK    GeneRIF: Emerging roles of plasma gelsolin in tumorigenesis and
            modulating the tumor microenvironment.
            Review article
REFERENCE   5  (residues 1 to 742)
  AUTHORS   Pavlovska I, Ramata-Stunda A, Martinsone Z, Boroduskis M, Patetko
            L, Martinsone I, Seile A and Vanadzins I.
  TITLE     In vitro impact preliminary assessment of airborne particulate from
            metalworking and woodworking industries
  JOURNAL   Sci Rep 11 (1), 20181 (2021)
   PUBMED   34642423
  REMARK    GeneRIF: In vitro impact preliminary assessment of airborne
            particulate from metalworking and woodworking industries.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 742)
  AUTHORS   de la Chapelle A, Tolvanen R, Boysen G, Santavy J,
            Bleeker-Wagemakers L, Maury CP and Kere J.
  TITLE     Gelsolin-derived familial amyloidosis caused by asparagine or
            tyrosine substitution for aspartic acid at residue 187
  JOURNAL   Nat Genet 2 (2), 157-160 (1992)
   PUBMED   1338910
REFERENCE   7  (residues 1 to 742)
  AUTHORS   Yu FX, Sun HQ, Janmey PA and Yin HL.
  TITLE     Identification of a polyphosphoinositide-binding sequence in an
            actin monomer-binding domain of gelsolin
  JOURNAL   J Biol Chem 267 (21), 14616-14621 (1992)
   PUBMED   1321812
REFERENCE   8  (residues 1 to 742)
  AUTHORS   de la Chapelle A, Kere J, Sack GH Jr, Tolvanen R and Maury CP.
  TITLE     Familial amyloidosis, Finnish type: G654----a mutation of the
            gelsolin gene in Finnish families and an unrelated American family
  JOURNAL   Genomics 13 (3), 898-901 (1992)
   PUBMED   1322359
REFERENCE   9  (residues 1 to 742)
  AUTHORS   Paunio T, Kiuru S, Hongell V, Mustonen E, Syvanen AC, Bengstrom M,
            Palo J and Peltonen L.
  TITLE     Solid-phase minisequencing test reveals Asp187----Asn (G654----A)
            mutation of gelsolin in all affected individuals with Finnish type
            of familial amyloidosis
  JOURNAL   Genomics 13 (1), 237-239 (1992)
   PUBMED   1315718
REFERENCE   10 (residues 1 to 742)
  AUTHORS   Haltia M, Levy E, Meretoja J, Fernandez-Madrid I, Koivunen O and
            Frangione B.
  TITLE     Gelsolin gene mutation--at codon 187--in familial amyloidosis,
            Finnish: DNA-diagnostic assay
  JOURNAL   Am J Med Genet 42 (3), 357-359 (1992)
   PUBMED   1311149
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC341948.1, AK096280.1 and
            BC017491.1.
            
            Summary: The protein encoded by this gene binds to the 'plus' ends
            of actin monomers and filaments to prevent monomer exchange. The
            encoded calcium-regulated protein functions in both assembly and
            disassembly of actin filaments. Defects in this gene are a cause of
            familial amyloidosis Finnish type (FAF). Multiple transcript
            variants encoding several different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.14809.1,
                                           SRR1803614.81780.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..742
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     Protein         1..742
                     /product="gelsolin isoform c"
                     /note="brevin; actin-depolymerizing factor; epididymis
                     secretory sperm binding protein"
                     /calculated_mol_wt=81810
     Region          19..131
                     /region_name="gelsolin_S1_like"
                     /note="Gelsolin sub-domain 1-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11290"
                     /db_xref="CDD:200446"
     Site            order(36..37,76,82..83,85..87,89..91,93..94,105,107)
                     /site_type="other"
                     /note="putative actin binding interface [polypeptide
                     binding]"
                     /db_xref="CDD:200446"
     Region          146..235
                     /region_name="gelsolin_S2_like"
                     /note="Gelsolin sub-domain 2-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11289"
                     /db_xref="CDD:200445"
     Region          255..355
                     /region_name="gelsolin_S3_like"
                     /note="Gelsolin sub-domain 3-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11292"
                     /db_xref="CDD:200448"
     Site            order(350,355)
                     /site_type="other"
                     /note="putative nucleotide binding site [chemical
                     binding]"
                     /db_xref="CDD:200448"
     Region          399..499
                     /region_name="gelsolin_S4_like"
                     /note="Gelsolin sub-domain 4-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11293"
                     /db_xref="CDD:200449"
     Site            order(415..416,454,460..461,463..465,467..469,471..472,
                     483,485)
                     /site_type="other"
                     /note="putative actin binding interface [polypeptide
                     binding]"
                     /db_xref="CDD:200449"
     Site            490
                     /site_type="other"
                     /note="putative nucleotide binding residue [chemical
                     binding]"
                     /db_xref="CDD:200449"
     Region          521..609
                     /region_name="gelsolin_S5_like"
                     /note="Gelsolin sub-domain 5-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11288"
                     /db_xref="CDD:200444"
     Site            529
                     /site_type="other"
                     /note="putative nucleotide binding residue [chemical
                     binding]"
                     /db_xref="CDD:200444"
     Region          626..724
                     /region_name="gelsolin_S6_like"
                     /note="Gelsolin sub-domain 6-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11291"
                     /db_xref="CDD:200447"
     CDS             1..742
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL"
                     /coded_by="NM_001127666.2:199..2427"
                     /note="isoform c is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS48011.1"
                     /db_xref="GeneID:2934"
                     /db_xref="HGNC:HGNC:4620"
                     /db_xref="MIM:137350"
ORIGIN      
        1 meklfccfpn smvvehpefl kagkepglqi wrvekfdlvp vptnlygdff tgdayvilkt
       61 vqlrngnlqy dlhywlgnec sqdesgaaai ftvqlddyln gravqhrevq gfesatflgy
      121 fksglkykkg gvasgfkhvv pnevvvqrlf qvkgrrvvra tevpvswesf nngdcfildl
      181 gnnihqwcgs nsnryerlka tqvskgirdn ersgrarvhv seegtepeam lqvlgpkpal
      241 pagtedtake daanrklakl ykvsngagtm svslvadenp faqgalksed cfildhgkdg
      301 kifvwkgkqa nteerkaalk tasdfitkmd ypkqtqvsvl peggetplfk qffknwrdpd
      361 qtdglglsyl sshianverv pfdaatlhts tamaaqhgmd ddgtgqkqiw riegsnkvpv
      421 dpatygqfyg gdsyiilyny rhggrqgqii ynwqgaqstq devaasailt aqldeelggt
      481 pvqsrvvqgk epahlmslfg gkpmiiykgg tsreggqtap astrlfqvra nsagatrave
      541 vlpkagalns ndafvlktps aaylwvgtga seaektgaqe llrvlraqpv qvaegsepdg
      601 fwealggkaa yrtsprlkdk kmdahpprlf acsnkigrfv ieevpgelmq edlatddvml
      661 ldtwdqvfvw vgkdsqeeek tealtsakry ietdpanrdr rtpitvvkqg feppsfvgwf
      721 lgwdddywsv dpldramael aa
//
LOCUS       NP_861970                590 aa            linear   PRI 26-MAR-2023
DEFINITION  merlin isoform 2 [Homo sapiens].
ACCESSION   NP_861970
VERSION     NP_861970.1
DBSOURCE    REFSEQ: accession NM_181832.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 590)
  AUTHORS   Paintal A and Antic T.
  TITLE     The emerging role of NF2 alterations in new and established
            subtypes of renal cell carcinoma
  JOURNAL   Hum Pathol 133, 87-91 (2023)
   PUBMED   35705112
  REMARK    GeneRIF: The emerging role of NF2 alterations in new and
            established subtypes of renal cell carcinoma.
            Review article
REFERENCE   2  (residues 1 to 590)
  AUTHORS   Hennigan RF, Thomson CS, Stachowski K, Nassar N and Ratner N.
  TITLE     Merlin tumor suppressor function is regulated by PIP2-mediated
            dimerization
  JOURNAL   PLoS One 18 (2), e0281876 (2023)
   PUBMED   36809290
  REMARK    GeneRIF: Merlin tumor suppressor function is regulated by
            PIP2-mediated dimerization.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 590)
  AUTHORS   Vasan V, Dullea JT, Devarajan A, Ali M, Rutland JW, Gill CM,
            Kinoshita Y, McBride RB, Gliedman P, Bederson J, Donovan M, Sebra
            R, Umphlett M and Shrivastava RK.
  TITLE     NF2 mutations are associated with resistance to radiation therapy
            for grade 2 and grade 3 recurrent meningiomas
  JOURNAL   J Neurooncol 161 (2), 309-316 (2023)
   PUBMED   36436149
  REMARK    GeneRIF: NF2 mutations are associated with resistance to radiation
            therapy for grade 2 and grade 3 recurrent meningiomas.
REFERENCE   4  (residues 1 to 590)
  AUTHORS   Collins K, Hwang M, Antic T, Paintal A, Argani P, Matoso A,
            Gopinath A, Baskovich B, Mehra R, Williamson SR, Idrees MT,
            Barletta JA, Anderson WJ, Hirsch MS, Hornick JL and Acosta AM.
  TITLE     Merlin immunohistochemistry is useful in diagnosis of tumours
            within the spectrum of biphasic hyalinizing psammomatous renal cell
            carcinoma
  JOURNAL   Histopathology 81 (5), 577-586 (2022)
   PUBMED   35971742
  REMARK    GeneRIF: Merlin immunohistochemistry is useful in diagnosis of
            tumours within the spectrum of biphasic hyalinizing psammomatous
            renal cell carcinoma.
REFERENCE   5  (residues 1 to 590)
  AUTHORS   Paintal A, Tjota MY, Wang P, Fitzpatrick C, Wanjari P, Stadler WM,
            Gallan AJ, Segal J and Antic T.
  TITLE     NF2-mutated Renal Carcinomas Have Common Morphologic Features Which
            Overlap With Biphasic Hyalinizing Psammomatous Renal Cell
            Carcinoma: A Comprehensive Study of 14 Cases
  JOURNAL   Am J Surg Pathol 46 (5), 617-627 (2022)
   PUBMED   35034039
  REMARK    GeneRIF: NF2-mutated Renal Carcinomas Have Common Morphologic
            Features Which Overlap With Biphasic Hyalinizing Psammomatous Renal
            Cell Carcinoma: A Comprehensive Study of 14 Cases.
REFERENCE   6  (residues 1 to 590)
  AUTHORS   den Bakker MA, Tascilar M, Riegman PH, Hekman AC, Boersma W,
            Janssen PJ, de Jong TA, Hendriks W, van der Kwast TH and Zwarthoff
            EC.
  TITLE     Neurofibromatosis type 2 protein co-localizes with elements of the
            cytoskeleton
  JOURNAL   Am J Pathol 147 (5), 1339-1349 (1995)
   PUBMED   7485397
REFERENCE   7  (residues 1 to 590)
  AUTHORS   Evans DG, Bourn D, Wallace A, Ramsden RT, Mitchell JD and Strachan
            T.
  TITLE     Diagnostic issues in a family with late onset type 2
            neurofibromatosis
  JOURNAL   J Med Genet 32 (6), 470-474 (1995)
   PUBMED   7666400
REFERENCE   8  (residues 1 to 590)
  AUTHORS   Honda M, Arai E, Sawada S, Ohta A and Niimura M.
  TITLE     Neurofibromatosis 2 and neurilemmomatosis gene are identical
  JOURNAL   J Invest Dermatol 104 (1), 74-77 (1995)
   PUBMED   7798645
REFERENCE   9  (residues 1 to 590)
  AUTHORS   Evans,D.G.
  TITLE     Neurofibromatosis 2
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301380
REFERENCE   10 (residues 1 to 590)
  AUTHORS   Arai E, Ikeuchi T, Karasawa S, Tamura A, Yamamoto K, Kida M,
            Ichimura K, Yuasa Y and Tonomura A.
  TITLE     Constitutional translocation t(4;22) (q12;q12.2) associated with
            neurofibromatosis type 2
  JOURNAL   Am J Med Genet 44 (2), 163-167 (1992)
   PUBMED   1456285
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN419318.1, CF138178.1,
            AF369668.1 and AC004882.3.
            
            Summary: This gene encodes a protein that is similar to some
            members of the ERM (ezrin, radixin, moesin) family of proteins that
            link cytoskeletal components with proteins in the cell membrane.
            The encoded protein is involved in regulation of contact-dependent
            inhibition of cell proliferation and functions in cell-cell
            adhesion and transmembrane signaling. The encoded protein has been
            shown to interact with cell-surface proteins, proteins involved in
            cytoskeletal dynamics, and proteins involved in regulating ion
            transport. Disruption of this protein's function has been
            implicated in tumorigenesis and metastasis. Mutations in this gene
            are associated with neurofibromatosis type II which is
            characterized by nervous system and skin tumors and ocular
            abnormalities. [provided by RefSeq, May 2022].
            
            Transcript Variant: This variant (8) includes an alternate exon,
            compared to variant 1, that causes a frameshift. The resulting
            protein (isoform 2), one of the two predominant isoforms, has a
            distinct C-terminus, compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.155404.1,
                                           SRR1803612.148299.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..590
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..590
                     /product="merlin isoform 2"
                     /note="moesin-ezrin-radixin like; neurofibromin 2
                     (bilateral acoustic neuroma); schwannomin;
                     moesin-ezrin-radizin-like protein; schwannomerlin; merlin;
                     moesin-ezrin-radixin-like protein; neurofibromin-2;
                     bilateral acoustic neurofibromatosis"
                     /calculated_mol_wt=68959
     Site            13
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P35240.1)"
     Region          23..222
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          216..312
                     /region_name="FERM_C_ERM"
                     /note="FERM domain C-lobe/F3 of the ERM family; cd13194"
                     /db_xref="CDD:270015"
     Site            order(258..259,261..267,276,297,300..301,304)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:270015"
     Site            order(258,261..268,276,297,300..301,304)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:270015"
     Site            order(294,298)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:270015"
     Site            297..312
                     /site_type="other"
                     /note="actin binding site 2 [polypeptide binding]"
                     /db_xref="CDD:270015"
     Region          307..>367
                     /region_name="PLN03086"
                     /note="PRLI-interacting factor K; Provisional"
                     /db_xref="CDD:178635"
     Region          346..579
                     /region_name="ERM"
                     /note="Ezrin/radixin/moesin family; pfam00769"
                     /db_xref="CDD:425860"
     Site            518
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PAK.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (P35240.1)"
     CDS             1..590
                     /gene="NF2"
                     /gene_synonym="ACN; BANF; merlin-1; SCH"
                     /coded_by="NM_181832.3:367..2139"
                     /note="isoform 2 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS13862.1"
                     /db_xref="GeneID:4771"
                     /db_xref="HGNC:HGNC:7773"
                     /db_xref="MIM:607379"
ORIGIN      
        1 magaiasrms fsslkrkqpk tftvrivtmd aemefncemk wkgkdlfdlv crtlglretw
       61 ffglqytikd tvawlkmdkk vldhdvskee pvtfhflakf ypenaeeelv qeitqhlffl
      121 qvkkqildek iycppeasvl lasyavqaky gdydpsvhkr gflaqeellp krvinlyqmt
      181 pemweerita wyaehrgrar deaemeylki aqdlemygvn yfairnkkgt elllgvdalg
      241 lhiydpenrl tpkisfpwne irnisysdke ftikpldkki dvfkfnsskl rvnklilqlc
      301 ignhdlfmrr rkadslevqq mkaqareeka rkqmerqrla rekqmreeae rtrdelerrl
      361 lqmkeeatma nealmrseet adllaekaqi teeeakllaq kaaeaeqemq rikatairte
      421 eekrlmeqkv leaevlalkm aeeserrake adqlkqdlqe areaerrakq klleiatkpt
      481 yppmnpipap lppdipsfnl igdslsfdfk dtdmkrlsme iekekveyme kskhlqeqln
      541 elkteiealk lkeretaldi lhnensdrgg sskhntikkp qaqgrrpici
//
LOCUS       NP_001365679             953 aa            linear   PRI 26-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase CYLD isoform 2 [Homo
            sapiens].
ACCESSION   NP_001365679
VERSION     NP_001365679.1
DBSOURCE    REFSEQ: accession NM_001378750.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 953)
  AUTHORS   Minderman M, Lantermans HC, Gruneberg LJ, Cillessen SAGM, Bende RJ,
            van Noesel CJM, Kersten MJ, Pals ST and Spaargaren M.
  TITLE     MALT1-dependent cleavage of CYLD promotes NF-kappaB signaling and
            growth of aggressive B-cell receptor-dependent lymphomas
  JOURNAL   Blood Cancer J 13 (1), 37 (2023)
   PUBMED   36922488
  REMARK    GeneRIF: MALT1-dependent cleavage of CYLD promotes NF-kappaB
            signaling and growth of aggressive B-cell receptor-dependent
            lymphomas.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 953)
  AUTHORS   Xiao X, Xu T, Liu H, Liu X, Liao X, Zhou Y, Zhou L, Wang X, Zhu Y,
            Yang Q, Hao X, Liu Y, Jiang H, Guo J, Wang J, Tang B, Li J, Shen L
            and Jiao B.
  TITLE     CYLD variants identified in Alzheimer's disease and frontotemporal
            dementia patients
  JOURNAL   Ann Clin Transl Neurol 9 (10), 1596-1601 (2022)
   PUBMED   36000313
  REMARK    GeneRIF: CYLD variants identified in Alzheimer's disease and
            frontotemporal dementia patients.
REFERENCE   3  (residues 1 to 953)
  AUTHORS   Papadatou V, Tologkos S, Tsolou A, Deftereou TE, Liberis A,
            Trypsianis G, Alexiadis T, Georgiadi K, Alexiadi CA, Nikolaidou C
            and Lambropoulou M.
  TITLE     CYLD expression in endometrial carcinoma and correlation with
            clinicohistopathological parameters
  JOURNAL   Taiwan J Obstet Gynecol 61 (4), 596-600 (2022)
   PUBMED   35779906
  REMARK    GeneRIF: CYLD expression in endometrial carcinoma and correlation
            with clinicohistopathological parameters.
REFERENCE   4  (residues 1 to 953)
  AUTHORS   Wang L, Lin Y, Zhou X, Chen Y, Li X, Luo W, Zhou Y and Cai L.
  TITLE     CYLD deficiency enhances metabolic reprogramming and tumor
            progression in nasopharyngeal carcinoma via PFKFB3
  JOURNAL   Cancer Lett 532, 215586 (2022)
   PUBMED   35131382
  REMARK    GeneRIF: CYLD deficiency enhances metabolic reprogramming and tumor
            progression in nasopharyngeal carcinoma via PFKFB3.
REFERENCE   5  (residues 1 to 953)
  AUTHORS   Trang DT, Giang NH, Trang BK, Ngoc NT, Giang NV, Canh NX, Vuong NB
            and Xuan NT.
  TITLE     Prevalence of CYLD mutations in Vietnamese patients with
            polycythemia vera
  JOURNAL   Adv Clin Exp Med 31 (4), 369-380 (2022)
   PUBMED   35025147
  REMARK    GeneRIF: Prevalence of CYLD mutations in Vietnamese patients with
            polycythemia vera.
REFERENCE   6  (residues 1 to 953)
  AUTHORS   Fenske,C., Banerjee,P., Holden,C. and Carter,N.
  TITLE     Brooke-Spiegler syndrome locus assigned to 16q12-q13
  JOURNAL   J Invest Dermatol 114 (5), 1057-1058 (2000)
   PUBMED   10792569
REFERENCE   7  (residues 1 to 953)
  AUTHORS   Thomson SA, Rasmussen SA, Zhang J and Wallace MR.
  TITLE     A new hereditary cylindromatosis family associated with CYLD1 on
            chromosome 16
  JOURNAL   Hum Genet 105 (1-2), 171-173 (1999)
   PUBMED   10480375
REFERENCE   8  (residues 1 to 953)
  AUTHORS   Biggs PJ, Chapman P, Lakhani SR, Burn J and Stratton MR.
  TITLE     The cylindromatosis gene (cyld1) on chromosome 16q may be the only
            tumour suppressor gene involved in the development of cylindromas
  JOURNAL   Oncogene 12 (6), 1375-1377 (1996)
   PUBMED   8649842
REFERENCE   9  (residues 1 to 953)
  AUTHORS   Biggs PJ, Wooster R, Ford D, Chapman P, Mangion J, Quirk Y, Easton
            DF, Burn J and Stratton MR.
  TITLE     Familial cylindromatosis (turban tumour syndrome) gene localised to
            chromosome 16q12-q13: evidence for its role as a tumour suppressor
            gene
  JOURNAL   Nat Genet 11 (4), 441-443 (1995)
   PUBMED   7493027
REFERENCE   10 (residues 1 to 953)
  AUTHORS   Dubois,A. and Rajan,N.
  TITLE     CYLD Cutaneous Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   32298062
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007728.4.
            
            Summary: This gene is encodes a cytoplasmic protein with three
            cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains
            that functions as a deubiquitinating enzyme. Mutations in this gene
            have been associated with cylindromatosis, multiple familial
            trichoepithelioma, and Brooke-Spiegler syndrome. Alternate
            transcriptional splice variants, encoding different isoforms, have
            been characterized. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.3061870.1,
                                           SRR14038191.212847.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..953
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.1"
     Protein         1..953
                     /product="ubiquitin carboxyl-terminal hydrolase CYLD
                     isoform 2"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin specific peptidase like 2; ubiquitin
                     thiolesterase CYLD; cylindromatosis (turban tumor
                     syndrome); probable ubiquitin carboxyl-terminal hydrolase
                     CYLD; ubiquitin-specific-processing protease CYLD;
                     deubiquitinating enzyme CYLD; ubiquitin thioesterase CYLD"
                     /calculated_mol_wt=106914
     Region          127..203
                     /region_name="CAP_GLY"
                     /note="Cytoskeleton-associated proteins (CAPs) are
                     involved in the organisation of microtubules and
                     transportation of vesicles and organelles along the
                     cytoskeletal network; smart01052"
                     /db_xref="CDD:214997"
     Region          232..302
                     /region_name="CAP_GLY"
                     /note="Cytoskeleton-associated proteins (CAPs) are
                     involved in the organisation of microtubules and
                     transportation of vesicles and organelles along the
                     cytoskeletal network; smart01052"
                     /db_xref="CDD:214997"
     Region          304..460
                     /region_name="CYLD_phos_site"
                     /note="Phosphorylation region of CYLD, unstructured;
                     pfam16607"
                     /db_xref="CDD:435457"
     Region          306..350
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQC7.1)"
     Site            384
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9NQC7.1)"
     Region          389..408
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQC7.1)"
     Region          391..466
                     /region_name="Interaction with TRAF2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQC7.1)"
     Site            415
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15870263,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NQC7.1)"
     Site            419
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NQC7.1)"
     Region          467..551
                     /region_name="Interaction with IKBKG/NEMO.
                     /evidence=ECO:0000269|PubMed:15341735"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQC7.1)"
     Region          469..537
                     /region_name="CAP_GLY"
                     /note="Cytoskeleton-associated proteins (CAPs) are
                     involved in the organisation of microtubules and
                     transportation of vesicles and organelles along the
                     cytoskeletal network; smart01052"
                     /db_xref="CDD:214997"
     Region          590..945
                     /region_name="Peptidase_C19N"
                     /note="A subfamily of Peptidase C19. Peptidase C19
                     contains ubiquitinyl hydrolases. They are intracellular
                     peptidases that remove ubiquitin molecules from
                     polyubiquinated peptides by cleavage of isopeptide bonds.
                     They hydrolyze bonds involving the carboxyl...; cd02670"
                     /db_xref="CDD:239135"
     Site            order(593,598,868,887)
                     /site_type="active"
                     /db_xref="CDD:239135"
     Region          778..830
                     /region_name="B-box.
                     /evidence=ECO:0000269|PubMed:18313383,
                     ECO:0000269|PubMed:27591049"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQC7.1)"
     CDS             1..953
                     /gene="CYLD"
                     /gene_synonym="BRSS; CDMT; CYLD1; CYLDI; EAC; FTDALS8;
                     MFT; MFT1; SBS; TEM; USPL2"
                     /coded_by="NM_001378750.1:589..3450"
                     /note="isoform 2 is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS42164.1"
                     /db_xref="GeneID:1540"
                     /db_xref="HGNC:HGNC:2584"
                     /db_xref="MIM:605018"
ORIGIN      
        1 mssglwsqek vtspyweeri fylllqecsv tdkqtqkllk vpkgsigqyi qdrsvghsri
       61 psakgkknqi glkileqpha vlfvdekdvv einekftell laitnceerf slfknrnrls
      121 kglqidvgcp vkvqlrsgee kfpgvvrfrg pllaertvsg iffgvellee grgqgftdgv
      181 yqgkqlfqcd edcgvfvald kleliedddt alesdyagpg dtmqvelppl einsrvslkv
      241 getiesgtvi fcdvlpgkes lgyfvgvdmd npignwdgrf dgvqlcsfac vestillhin
      301 diipesvtqe rrppklafms rgvgdkgsss hnkpkatgst sdpgnrnrse lfytlngssv
      361 dsqpqskskn twyidevaed pakslteist dfdrsspplq pppvnsltte nrfhslpfsl
      421 tkmpntngsi ghsplslsaq svmeelntap vqespplamp pgnshglevg slaevkenpp
      481 fygvirwigq ppglnevlag leledecagc tdgtfrgtry ftcalkkalf vklkscrpds
      541 rfaslqpvsn qiercnslaf ggylsevvee ntppkmekeg leimigkkkg iqghynscyl
      601 dstlfclfaf ssvldtvllr pkekndveyy setqellrte ivnplriygy vcatkimklr
      661 kilekveaas gftseekdpe eflnilfhhi lrvepllkir sagqkvqdcy fyqifmekne
      721 kvgvptiqql lewsfinsnl kfaeapscli iqmprfgkdf klfkkifpsl elnitdlled
      781 tprqcricgg lamyecrecy ddpdisagki kqfcktcntq vhlhpkrlnh kynpvslpkd
      841 lpdwdwrhgc ipcqnmelfa vlcietshyv afvkygkdds awlffdsmad rdggqngfni
      901 pqvtpcpevg eylkmsledl hsldsrriqg carrllcday mcmyqsptms lyk
//
LOCUS       NP_001818                 79 aa            linear   PRI 26-MAR-2023
DEFINITION  cyclin-dependent kinases regulatory subunit 2 [Homo sapiens].
ACCESSION   NP_001818
VERSION     NP_001818.1
DBSOURCE    REFSEQ: accession NM_001827.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 79)
  AUTHORS   Feng F, Zhao Z, Cai X, Heng X and Ma X.
  TITLE     Cyclin-dependent kinase subunit2 (CKS2) promotes malignant
            phenotypes and epithelial-mesenchymal transition-like process in
            glioma by activating TGFbeta/SMAD signaling
  JOURNAL   Cancer Med 12 (5), 5889-5907 (2023)
   PUBMED   36284444
  REMARK    GeneRIF: Cyclin-dependent kinase subunit2 (CKS2) promotes malignant
            phenotypes and epithelial-mesenchymal transition-like process in
            glioma by activating TGFbeta/SMAD signaling.
REFERENCE   2  (residues 1 to 79)
  AUTHORS   Chen L, Hu K, Liu Y, Liu L, Tang J and Qin X.
  TITLE     Knockdown of replication protein A 3 induces protective autophagy
            and enhances cisplatin sensitivity in lung adenocarcinoma by
            inhibiting AKT/mTOR signaling via binding to cyclin-dependent
            kinases regulatory subunit 2
  JOURNAL   Drug Dev Res 83 (7), 1589-1599 (2022)
   PUBMED   35903032
  REMARK    GeneRIF: Knockdown of replication protein A 3 induces protective
            autophagy and enhances cisplatin sensitivity in lung adenocarcinoma
            by inhibiting AKT/mTOR signaling via binding to cyclin-dependent
            kinases regulatory subunit 2.
REFERENCE   3  (residues 1 to 79)
  AUTHORS   Zhou Y, Zeng J, Zhou W, Wu K, Tian Z and Shen W.
  TITLE     Prognostic significance of CKS2 and CD47 expression in patients
            with gastric cancer who underwent radical gastrectomy
  JOURNAL   Scand J Immunol 96 (4), e13198 (2022)
   PUBMED   35703112
  REMARK    GeneRIF: Prognostic significance of CKS2 and CD47 expression in
            patients with gastric cancer who underwent radical gastrectomy.
REFERENCE   4  (residues 1 to 79)
  AUTHORS   Feng J, Hu M, Li Z, Hu G, Han Y, Zhang Y, Zhang M and Ren J.
  TITLE     Cyclin-Dependent Kinase Subunit 2 (CKS2) as a Prognostic Marker for
            Stages I-III Invasive Non-Mucinous Lung Adenocarcinoma and Its Role
            in Affecting Drug Sensitivity
  JOURNAL   Cells 11 (16), 2611 (2022)
   PUBMED   36010686
  REMARK    GeneRIF: Cyclin-Dependent Kinase Subunit 2 (CKS2) as a Prognostic
            Marker for Stages I-III Invasive Non-Mucinous Lung Adenocarcinoma
            and Its Role in Affecting Drug Sensitivity.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 79)
  AUTHORS   Yang Z, Cheng H, Zhang Y and Zhou Y.
  TITLE     Errate: Identification of NDRG Family Member 4 (NDRG4) and CDC28
            Protein Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic Genes
            in Adrenocortical Carcinoma by Transcriptomic Analysis
  JOURNAL   Med Sci Monit 28, e937786 (2022)
   PUBMED   35899496
  REMARK    GeneRIF: Errate: Identification of NDRG Family Member 4 (NDRG4) and
            CDC28 Protein Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic
            Genes in Adrenocortical Carcinoma by Transcriptomic Analysis.
            Correction to:[Med Sci Monit. 2021 Mar 05;27:e928523. PMID:
            33667214]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 79)
  AUTHORS   de Wit NJ, Rijntjes J, Diepstra JH, van Kuppevelt TH, Weidle UH,
            Ruiter DJ and van Muijen GN.
  TITLE     Analysis of differential gene expression in human melanocytic
            tumour lesions by custom made oligonucleotide arrays
  JOURNAL   Br J Cancer 92 (12), 2249-2261 (2005)
   PUBMED   15900300
REFERENCE   7  (residues 1 to 79)
  AUTHORS   Le XF, Lammayot A, Gold D, Lu Y, Mao W, Chang T, Patel A, Mills GB
            and Bast RC Jr.
  TITLE     Genes affecting the cell cycle, growth, maintenance, and drug
            sensitivity are preferentially regulated by anti-HER2 antibody
            through phosphatidylinositol 3-kinase-AKT signaling
  JOURNAL   J Biol Chem 280 (3), 2092-2104 (2005)
   PUBMED   15504738
REFERENCE   8  (residues 1 to 79)
  AUTHORS   Demetrick DJ, Zhang H and Beach DH.
  TITLE     Chromosomal mapping of the human genes CKS1 to 8q21 and CKS2 to
            9q22
  JOURNAL   Cytogenet Cell Genet 73 (3), 250-254 (1996)
   PUBMED   8697818
REFERENCE   9  (residues 1 to 79)
  AUTHORS   Parge HE, Arvai AS, Murtari DJ, Reed SI and Tainer JA.
  TITLE     Human CksHs2 atomic structure: a role for its hexameric assembly in
            cell cycle control
  JOURNAL   Science 262 (5132), 387-395 (1993)
   PUBMED   8211159
REFERENCE   10 (residues 1 to 79)
  AUTHORS   Richardson HE, Stueland CS, Thomas J, Russell P and Reed SI.
  TITLE     Human cDNAs encoding homologs of the small p34Cdc28/Cdc2-associated
            protein of Saccharomyces cerevisiae and Schizosaccharomyces pombe
  JOURNAL   Genes Dev 4 (8), 1332-1344 (1990)
   PUBMED   2227411
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM841681.1, X54942.1 and
            BM838320.1.
            
            Summary: CKS2 protein binds to the catalytic subunit of the cyclin
            dependent kinases and is essential for their biological function.
            The CKS2 mRNA is found to be expressed in different patterns
            through the cell cycle in HeLa cells, which reflects specialized
            role for the encoded protein. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BM838320.1, SRR1163655.419743.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314355.7/ ENSP00000364976.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..79
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.2"
     Protein         1..79
                     /product="cyclin-dependent kinases regulatory subunit 2"
                     /note="CDC28 protein kinase 2; CKS1(S. cerevisiae
                     Cdc28/Cdc2 kinase subunit) homolog-2; CKS-2"
                     /calculated_mol_wt=9729
     Site            4
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P33552.1)"
     Region          6..73
                     /region_name="CKS"
                     /note="Cyclin-dependent kinase regulatory subunit;
                     pfam01111"
                     /db_xref="CDD:426054"
     CDS             1..79
                     /gene="CKS2"
                     /gene_synonym="CKSHS2"
                     /coded_by="NM_001827.3:99..338"
                     /db_xref="CCDS:CCDS6682.1"
                     /db_xref="GeneID:1164"
                     /db_xref="HGNC:HGNC:2000"
                     /db_xref="MIM:116901"
ORIGIN      
        1 mahkqiyysd kyfdehyeyr hvmlprelsk qvpkthlmse eewrrlgvqq slgwvhymih
       61 epephillfr rplpkdqqk
//
LOCUS       NP_009193                189 aa            linear   PRI 28-MAR-2023
DEFINITION  Parkinson disease protein 7 [Homo sapiens].
ACCESSION   NP_009193
VERSION     NP_009193.2
DBSOURCE    REFSEQ: accession NM_007262.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 189)
  AUTHORS   Gao Q, Jacob-Dolan JW and Scheck RA.
  TITLE     Parkinsonism-Associated Protein DJ-1 Is an Antagonist, Not an
            Eraser, for Protein Glycation
  JOURNAL   Biochemistry 62 (6), 1181-1190 (2023)
   PUBMED   36820886
  REMARK    GeneRIF: Parkinsonism-Associated Protein DJ-1 Is an Antagonist, Not
            an Eraser, for Protein Glycation.
REFERENCE   2  (residues 1 to 189)
  AUTHORS   Pal P, Roy S, Chowdhury A, Chatterjee R, Ray K and Ray J.
  TITLE     Parkinson's disease-associated 18 bp promoter variant of DJ-1
            alters REST binding and regulates its expression
  JOURNAL   Neurosci Lett 795, 137051 (2023)
   PUBMED   36603736
  REMARK    GeneRIF: Parkinson's disease-associated 18 bp promoter variant of
            DJ-1 alters REST binding and regulates its expression.
REFERENCE   3  (residues 1 to 189)
  AUTHORS   Katunina EA, Blokhin V, Nodel MR, Pavlova EN, Kalinkin AL,
            Kucheryanu VG, Alekperova L, Selikhova MV, Martynov MY and Ugrumov
            MV.
  TITLE     Searching for Biomarkers in the Blood of Patients at Risk of
            Developing Parkinson's Disease at the Prodromal Stage
  JOURNAL   Int J Mol Sci 24 (3), 1842 (2023)
   PUBMED   36768161
  REMARK    GeneRIF: Searching for Biomarkers in the Blood of Patients at Risk
            of Developing Parkinson's Disease at the Prodromal Stage.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 189)
  AUTHORS   Zhao XY, Ren JM, Liu HR, Zhou TT, Wang XY, Liu S and Chen HP.
  TITLE     DJ-1 activates the AMPK/mTOR pathway by binding RACK1 to induce
            autophagy and protect the myocardium from ischemia/hypoxia injury
  JOURNAL   Biochem Biophys Res Commun 637, 276-285 (2022)
   PUBMED   36410277
  REMARK    GeneRIF: DJ-1 activates the AMPK/mTOR pathway by binding RACK1 to
            induce autophagy and protect the myocardium from ischemia/hypoxia
            injury.
REFERENCE   5  (residues 1 to 189)
  AUTHORS   Hu J, Waters CH, Spiegelman D, Fon EA, Yu E, Asayesh F, Krohn L,
            Saini P, Alcalay RN, Hassin-Baer S, Gan-Or Z, Krainc D, Zhang B,
            Bustos BI and Lubbe SJ.
  CONSRTM   International Parkinson's Disease Genomics Consortium (IPDGC)
  TITLE     Gene-based burden analysis of damaging private variants in PRKN,
            PARK7 and PINK1 in Parkinson's disease cohorts of European descent
  JOURNAL   Neurobiol Aging 119, 136-138 (2022)
   PUBMED   36305379
  REMARK    GeneRIF: Gene-based burden analysis of damaging private variants in
            PRKN, PARK7 and PINK1 in Parkinson's disease cohorts of European
            descent.
REFERENCE   6  (residues 1 to 189)
  AUTHORS   Takahashi K, Taira T, Niki T, Seino C, Iguchi-Ariga SM and Ariga H.
  TITLE     DJ-1 positively regulates the androgen receptor by impairing the
            binding of PIASx alpha to the receptor
  JOURNAL   J Biol Chem 276 (40), 37556-37563 (2001)
   PUBMED   11477070
REFERENCE   7  (residues 1 to 189)
  AUTHORS   van Duijn CM, Dekker MC, Bonifati V, Galjaard RJ,
            Houwing-Duistermaat JJ, Snijders PJ, Testers L, Breedveld GJ,
            Horstink M, Sandkuijl LA, van Swieten JC, Oostra BA and Heutink P.
  TITLE     Park7, a novel locus for autosomal recessive early-onset
            parkinsonism, on chromosome 1p36
  JOURNAL   Am J Hum Genet 69 (3), 629-634 (2001)
   PUBMED   11462174
REFERENCE   8  (residues 1 to 189)
  AUTHORS   Taira T, Takahashi K, Kitagawa R, Iguchi-Ariga SM and Ariga H.
  TITLE     Molecular cloning of human and mouse DJ-1 genes and identification
            of Sp1-dependent activation of the human DJ-1 promoter
  JOURNAL   Gene 263 (1-2), 285-292 (2001)
   PUBMED   11223268
REFERENCE   9  (residues 1 to 189)
  AUTHORS   Nagakubo D, Taira T, Kitaura H, Ikeda M, Tamai K, Iguchi-Ariga SM
            and Ariga H.
  TITLE     DJ-1, a novel oncogene which transforms mouse NIH3T3 cells in
            cooperation with ras
  JOURNAL   Biochem Biophys Res Commun 231 (2), 509-513 (1997)
   PUBMED   9070310
REFERENCE   10 (residues 1 to 189)
  AUTHORS   Cook Shukla,L., Schulze,J., Farlow,J., Pankratz,N.D., Wojcieszek,J.
            and Foroud,T.
  TITLE     Parkinson Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301402
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP248330.1, BC008188.2,
            AK312000.1, D61380.2 and AL034417.14.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 9, 2003 this sequence version replaced NP_009193.1.
            
            Summary: The product of this gene belongs to the peptidase C56
            family of proteins. It acts as a positive regulator of androgen
            receptor-dependent transcription. It may also function as a
            redox-sensitive chaperone, as a sensor for oxidative stress, and it
            apparently protects neurons against oxidative stress and cell
            death. Defects in this gene are the cause of autosomal recessive
            early-onset Parkinson disease 7. Two transcript variants encoding
            the same protein have been identified for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.297539.1,
                                           SRR3476690.955399.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338639.10/ ENSP00000340278.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..189
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.23"
     Protein         1..189
                     /product="Parkinson disease protein 7"
                     /EC_number="3.5.1.124"
                     /note="oncogene DJ1; Parkinson disease (autosomal
                     recessive, early onset) 7; protein DJ-1; epididymis
                     secretory sperm binding protein Li 67p; protein deglycase
                     DJ-1; parkinson protein 7; maillard deglycase;
                     protein/nucleic acid deglycase DJ-1"
                     /calculated_mol_wt=19760
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (Q99497.2)"
     Region          5..184
                     /region_name="not_thiJ"
                     /note="DJ-1 family protein; TIGR01383"
                     /db_xref="CDD:213612"
     Site            67
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (Q99497.2)"
     Site            106
                     /site_type="active"
                     /note="conserved cys residue [active]"
                     /db_xref="CDD:153229"
     Site            148
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q99LX0; propagated from
                     UniProtKB/Swiss-Prot (Q99497.2)"
     Site            149..150
                     /site_type="cleavage"
                     /note="Cleavage, by CASP6.
                     /evidence=ECO:0000250|UniProtKB:Q99LX0; propagated from
                     UniProtKB/Swiss-Prot (Q99497.2)"
     CDS             1..189
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
                     /coded_by="NM_007262.5:107..676"
                     /db_xref="CCDS:CCDS93.1"
                     /db_xref="GeneID:11315"
                     /db_xref="HGNC:HGNC:16369"
                     /db_xref="MIM:602533"
ORIGIN      
        1 maskralvil akgaeemetv ipvdvmrrag ikvtvaglag kdpvqcsrdv vicpdasled
       61 akkegpydvv vlpggnlgaq nlsesaavke ilkeqenrkg liaaicagpt allaheigfg
      121 skvtthplak dkmmngghyt ysenrvekdg liltsrgpgt sfefalaive alngkevaaq
      181 vkaplvlkd
//
LOCUS       NP_115267                811 aa            linear   PRI 19-DEC-2022
DEFINITION  protocadherin gamma-B2 isoform 2 precursor [Homo sapiens].
ACCESSION   NP_115267
VERSION     NP_115267.1
DBSOURCE    REFSEQ: accession NM_032096.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 811)
  AUTHORS   Wu Q, Zhang T, Cheng JF, Kim Y, Grimwood J, Schmutz J, Dickson M,
            Noonan JP, Zhang MQ, Myers RM and Maniatis T.
  TITLE     Comparative DNA sequence analysis of mouse and human protocadherin
            gene clusters
  JOURNAL   Genome Res 11 (3), 389-404 (2001)
   PUBMED   11230163
REFERENCE   2  (residues 1 to 811)
  AUTHORS   Nollet F, Kools P and van Roy F.
  TITLE     Phylogenetic analysis of the cadherin superfamily allows
            identification of six major subfamilies besides several solitary
            members
  JOURNAL   J Mol Biol 299 (3), 551-572 (2000)
   PUBMED   10835267
  REMARK    Review article
REFERENCE   3  (residues 1 to 811)
  AUTHORS   Yagi T and Takeichi M.
  TITLE     Cadherin superfamily genes: functions, genomic organization, and
            neurologic diversity
  JOURNAL   Genes Dev 14 (10), 1169-1180 (2000)
   PUBMED   10817752
  REMARK    Review article
REFERENCE   4  (residues 1 to 811)
  AUTHORS   Wu Q and Maniatis T.
  TITLE     Large exons encoding multiple ectodomains are a characteristic
            feature of protocadherin genes
  JOURNAL   Proc Natl Acad Sci U S A 97 (7), 3124-3129 (2000)
   PUBMED   10716726
REFERENCE   5  (residues 1 to 811)
  AUTHORS   Wu Q and Maniatis T.
  TITLE     A striking organization of a large family of human neural
            cadherin-like cell adhesion genes
  JOURNAL   Cell 97 (6), 779-790 (1999)
   PUBMED   10380929
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF152518.1.
            
            Summary: This gene is a member of the protocadherin gamma gene
            cluster, one of three related clusters tandemly linked on
            chromosome five. These gene clusters have an immunoglobulin-like
            organization, suggesting that a novel mechanism may be involved in
            their regulation and expression. The gamma gene cluster includes 22
            genes divided into 3 subfamilies. Subfamily A contains 12 genes,
            subfamily B contains 7 genes and 2 pseudogenes, and the more
            distantly related subfamily C contains 3 genes. The tandem array of
            22 large, variable region exons are followed by a constant region,
            containing 3 exons shared by all genes in the cluster. Each
            variable region exon encodes the extracellular region, which
            includes 6 cadherin ectodomains and a transmembrane region. The
            constant region exons encode the common cytoplasmic region. These
            neural cadherin-like cell adhesion proteins most likely play a
            critical role in the establishment and function of specific
            cell-cell connections in the brain. Alternative splicing has been
            described for the gamma cluster genes. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (2) utilizes the large, first exon
            then continues into the downstream intron 1 sequence before
            terminating. This one-exon transcript encodes the shorter isoform
            (2).
            
            ##Evidence-Data-START##
            Transcript is intronless :: AF152518.1, BC101805.1 [ECO:0000345]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..811
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     Protein         1..811
                     /product="protocadherin gamma-B2 isoform 2 precursor"
                     /note="protocadherin gamma-B2"
                     /calculated_mol_wt=85144
     sig_peptide     1..30
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3271
     mat_peptide     31..811
                     /product="protocadherin gamma-B2 isoform 2"
                     /calculated_mol_wt=85144
     Region          32..112
                     /region_name="Cadherin_2"
                     /note="Cadherin-like; pfam08266"
                     /db_xref="CDD:400525"
     Region          138..238
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(144..145,201,203,234,236..237)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          246..342
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(253..254,308,310,339,341..342)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          356..448
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(358..359,411,413,444,446..447)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            419
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5G2.1)"
     Region          456..558
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(463..464,521,523,554,556..557)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            545
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5G2.1)"
     Region          578..662
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Region          688..769
                     /region_name="Cadherin_C_2"
                     /note="Cadherin cytoplasmic C-terminal; pfam16492"
                     /db_xref="CDD:435374"
     Site            692..712
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5G2.1)"
     CDS             1..811
                     /gene="PCDHGB2"
                     /gene_synonym="PCDH-GAMMA-B2"
                     /coded_by="NM_032096.1:1..2436"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS75332.1"
                     /db_xref="GeneID:56103"
                     /db_xref="HGNC:HGNC:8709"
                     /db_xref="MIM:606300"
ORIGIN      
        1 mkassgrcgl vrwlqvllpf llslfpgalp vqirysipee laknsvvgnl akdlglsvrd
       61 lparklrvsa ekeyftvnpe sgdllvsdri dreqicgkqp lcvldfdtva enplnifyia
      121 vivqdindnt plfkqtkinl kigestkpgt tfpldpalds dvgpnslqry hlndneyfdl
      181 aekqtpdgrk ypelilkhsl dreehslhql vltavdggdp pqsgttqiri kvtdandnpp
      241 vfsqdvyrvt lredvppgff vlqvtatdrd eginaeitys fhnvdeqvkh ffnlnektge
      301 ittkddldfe iassytlsie akdpgdlaah csiqveildd ndcapevivt svstplpeds
      361 ppgtvialik trdrdsgeng evycqvlgna kfilkssskn yyklvtdgal dreeipeynl
      421 titatdggkp plsssiivtl hisdvndnap vfqqtsymvh vaennppgas iaqisasdpd
      481 lgpsgqvsys ivasdlkpre ilsyvsvsaq sgvvfaqraf dheqlrafel tlqardqgsp
      541 alsanvslrv lvgdlndnap rvlypalgpd gsalfdmvpr aaepgylvtk vvavdadsgh
      601 nawlsyhvlq asepglfslg lrtgevrtar algdrdaarq rllvavrdgg qpplsatatl
      661 hlifadslqe vlpdlsdrre psdpqaklqf ylvvalalis vlfflavila islrlrlssr
      721 sdawdcfqpg lsskpgpgvl pnysegtlpy synlcvasqs aktefnflni tpelvpaqdl
      781 vcdnasweqn tnhgaagvpf asdtilkvsf n
//
LOCUS       NP_001124336             755 aa            linear   PRI 24-DEC-2022
DEFINITION  PWWP domain-containing protein 2A isoform b [Homo sapiens].
ACCESSION   NP_001124336
VERSION     NP_001124336.1
DBSOURCE    REFSEQ: accession NM_001130864.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 755)
  AUTHORS   Hong H, Sun Y, Deng H, Yuan K, Chen J, Liu W and Cui Z.
  TITLE     Dysregulation of cPWWP2A-miR-579 axis mediates
            dexamethasone-induced cytotoxicity in human osteoblasts
  JOURNAL   Biochem Biophys Res Commun 517 (3), 491-498 (2019)
   PUBMED   31376935
  REMARK    GeneRIF: It has been shown that dysregulation of the circular RNA
            PWWP2A-miR-579 axis is involved in dexamethasone-induced
            cytotoxicity in human osteoblasts.
REFERENCE   2  (residues 1 to 755)
  AUTHORS   Link S, Spitzer RMM, Sana M, Torrado M, Volker-Albert MC, Keilhauer
            EC, Burgold T, Punzeler S, Low JKK, Lindstrom I, Nist A, Regnard C,
            Stiewe T, Hendrich B, Imhof A, Mann M, Mackay JP, Bartkuhn M and
            Hake SB.
  TITLE     PWWP2A binds distinct chromatin moieties and interacts with an
            MTA1-specific core NuRD complex
  JOURNAL   Nat Commun 9 (1), 4300 (2018)
   PUBMED   30327463
  REMARK    GeneRIF: PWWP2A is a complex chromatin-binding protein that serves
            to direct the deacetylase complex M1HR to H2A.Z-containing
            chromatin, thereby promoting changes in histone acetylation
            levels.PWWP2A's internal region binds H2A.Z nucleosomes and DNA.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 755)
  AUTHORS   Zhang T, Wei G, Millard CJ, Fischer R, Konietzny R, Kessler BM,
            Schwabe JWR and Brockdorff N.
  TITLE     A variant NuRD complex containing PWWP2A/B excludes MBD2/3 to
            regulate transcription at active genes
  JOURNAL   Nat Commun 9 (1), 3798 (2018)
   PUBMED   30228260
  REMARK    GeneRIF: Study in HeLa, HEK293F, and mouse embryonic stem cells
            reveal that loss of PWWP2A/B leads to increases in histone
            acetylation predominantly at highly expressed genes, accompanied by
            decreases in Pol II elongation. Collectively, these findings
            suggest a role for PWWP2A/B in regulating transcription through the
            fine-tuning of histone acetylation dynamics at actively transcribed
            genes.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 755)
  AUTHORS   Punzeler S, Link S, Wagner G, Keilhauer EC, Kronbeck N, Spitzer RM,
            Leidescher S, Markaki Y, Mentele E, Regnard C, Schneider K,
            Takahashi D, Kusakabe M, Vardabasso C, Zink LM, Straub T, Bernstein
            E, Harata M, Leonhardt H, Mann M, Rupp RA and Hake SB.
  TITLE     Multivalent binding of PWWP2A to H2A.Z regulates mitosis and neural
            crest differentiation
  JOURNAL   EMBO J 36 (15), 2263-2279 (2017)
   PUBMED   28645917
  REMARK    GeneRIF: Thus, PWWP2A is a novel H2A.Z-specific multivalent
            chromatin binder providing a surprising link between H2A.Z,
            chromosome segregation, and organ development.
REFERENCE   5  (residues 1 to 755)
  AUTHORS   Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA,
            Weisswange I, Mansfeld J, Buchholz F, Hyman AA and Mann M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   6  (residues 1 to 755)
  AUTHORS   Joshi P, Greco TM, Guise AJ, Luo Y, Yu F, Nesvizhskii AI and
            Cristea IM.
  TITLE     The functional interactome landscape of the human histone
            deacetylase family
  JOURNAL   Mol Syst Biol 9, 672 (2013)
   PUBMED   23752268
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008706.5, DB450981.1, BC105110.1, AK055921.1, AI972512.1 and
            BC018680.1.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            at its 3'-terminal exon, compared to variant 1, which results in a
            protein (isoform B) with a longer and distinct C-terminus, compared
            to isoform A.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.18035.1,
                                           SRR3476690.851419.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307063.9/ ENSP00000305151.7
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..755
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.3"
     Protein         1..755
                     /product="PWWP domain-containing protein 2A isoform b"
                     /note="PWWP domain-containing protein 2A; MSTP101"
                     /calculated_mol_wt=81830
     Region          1..153
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96N64.2)"
     Site            81
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96N64.2)"
     Site            102
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96N64.2)"
     Site            116
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q96N64.2)"
     Site            119
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q96N64.2)"
     Region          148..373
                     /region_name="Interaction with HDAC1 and MTA1.
                     /evidence=ECO:0000269|PubMed:30228260"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96N64.2)"
     Region          282..301
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96N64.2)"
     Region          <323..>536
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          334..384
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96N64.2)"
     Region          400..562
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96N64.2)"
     Region          423..574
                     /region_name="Interaction with the H2A.Z/H2AZ1.
                     /evidence=ECO:0000269|PubMed:28645917"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96N64.2)"
     Region          578..626
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96N64.2)"
     Region          634..755
                     /region_name="PWWP_PWWP2A"
                     /note="PWWP domain found in PWWP domain-containing protein
                     2A (PWWP2A); cd20152"
                     /db_xref="CDD:438980"
     Site            order(666,669,695)
                     /site_type="other"
                     /note="putative methyl-histone binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438980"
     Site            667..670
                     /site_type="other"
                     /note="PWWP sequence motif"
                     /db_xref="CDD:438980"
     CDS             1..755
                     /gene="PWWP2A"
                     /gene_synonym="MST101"
                     /coded_by="NM_001130864.2:63..2330"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS47332.1"
                     /db_xref="GeneID:114825"
                     /db_xref="HGNC:HGNC:29406"
                     /db_xref="MIM:617823"
ORIGIN      
        1 maavaaeaaa taaspgegga geaepemepi pgseagtdpl pvtateasvp dgetdgqqsa
       61 pqadepplpp pppppgelar speavgpele aeeklsvrva esaaaapqgg pelppspasp
      121 peqppapeer eepplpqpva palvppaggd stvsqlipgs evrvtldhii edalvvsfrf
      181 geklfsgvlm dlskrfgphg ipvtvfpkre ykdkpeampl qsntfqegte vkceangavp
      241 ddpspvphpe lslaeslwts kppplfhega pyppplfird tynqsipqpp prkikrpkrk
      301 myreeptsim naiklrprqv lcdkcknsvv aekkeirkgs satdsskyed kkrrnesvtt
      361 vnkklktdhk vdgknqnesq krnavvkvsn iahsrgrvvk vsaqantska qlstkkvlqs
      421 knmdhakare vlkiakekaq kkqnetstsk nahskvhftr ryqnpssgsl pprvrlkpqr
      481 yrneendssl ktglekmrsg kmapkpqsrc tstrsageap senqspskgp eeassevqdt
      541 nevhvpgdqd epqtlgkkgs knnisvymtl nqkksdsssa svcsidstdd lkssnsecss
      601 sesfdfppgs mhapstssts ssskeekkls nslkmkvfsk nvskcvtpdg rticvgdivw
      661 akiygfpwwp ariltitvsr kdngllvrqe ariswfgspt tsflalsqls pflenfqsrf
      721 nkkrkglyrk aiteaakaak qltpevrall tqfet
//
LOCUS       NP_037365                545 aa            linear   PRI 24-DEC-2022
DEFINITION  STE20/SPS1-related proline-alanine-rich protein kinase isoform 1
            [Homo sapiens].
ACCESSION   NP_037365
VERSION     NP_037365.2
DBSOURCE    REFSEQ: accession NM_013233.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 545)
  AUTHORS   Elvers KT, Lipka-Lloyd M, Trueman RC, Bax BD and Mehellou Y.
  TITLE     Structures of the Human SPAK and OSR1 Conserved C-Terminal (CCT)
            Domains
  JOURNAL   Chembiochem 23 (1), e202100441 (2022)
   PUBMED   34726826
  REMARK    GeneRIF: Structures of the Human SPAK and OSR1 Conserved C-Terminal
            (CCT) Domains.
REFERENCE   2  (residues 1 to 545)
  AUTHORS   Chen J, Zhou L, Yang J, Xie H, Liu L and Li Y.
  TITLE     Knockdown of STK39 suppressed cell proliferation, migration, and
            invasion in hepatocellular carcinoma by repressing the
            phosphorylation of mitogen-activated protein kinase p38
  JOURNAL   Bioengineered 12 (1), 6529-6537 (2021)
   PUBMED   34519635
  REMARK    GeneRIF: Knockdown of STK39 suppressed cell proliferation,
            migration, and invasion in hepatocellular carcinoma by repressing
            the phosphorylation of mitogen-activated protein kinase p38.
REFERENCE   3  (residues 1 to 545)
  AUTHORS   Qin S, Ning M, Liu Q, Ding X, Wang Y and Liu Q.
  TITLE     Knockdown of long non-coding RNA CDKN2B-AS1 suppresses the
            progression of breast cancer by miR-122-5p/STK39 axis
  JOURNAL   Bioengineered 12 (1), 5125-5137 (2021)
   PUBMED   34374638
  REMARK    GeneRIF: Knockdown of long non-coding RNA CDKN2B-AS1 suppresses the
            progression of breast cancer by miR-122-5p/STK39 axis.
REFERENCE   4  (residues 1 to 545)
  AUTHORS   Kunnas T, Maatta K and Nikkari ST.
  TITLE     Variant rs6749447 (T > G) in the serine threonine kinase gene is
            associated with cardiovascular complications, the Tampere adult
            population cardiovascular risk study
  JOURNAL   Medicine (Baltimore) 100 (42), e27566 (2021)
   PUBMED   34678896
  REMARK    GeneRIF: Variant rs6749447 (T > G) in the serine threonine kinase
            gene is associated with cardiovascular complications, the Tampere
            adult population cardiovascular risk study.
REFERENCE   5  (residues 1 to 545)
  AUTHORS   Qiu Z, Dong B, Guo W, Piotr R, Longmore G, Yang X, Yu Z, Deng J,
            Evers BM and Wu Y.
  TITLE     STK39 promotes breast cancer invasion and metastasis by increasing
            SNAI1 activity upon phosphorylation
  JOURNAL   Theranostics 11 (16), 7658-7670 (2021)
   PUBMED   34335956
  REMARK    GeneRIF: STK39 promotes breast cancer invasion and metastasis by
            increasing SNAI1 activity upon phosphorylation.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 545)
  AUTHORS   Moriguchi T, Urushiyama S, Hisamoto N, Iemura S, Uchida S, Natsume
            T, Matsumoto K and Shibuya H.
  TITLE     WNK1 regulates phosphorylation of cation-chloride-coupled
            cotransporters via the STE20-related kinases, SPAK and OSR1
  JOURNAL   J Biol Chem 280 (52), 42685-42693 (2005)
   PUBMED   16263722
  REMARK    GeneRIF: WNK1 and SPAK/OSR1 mediate the hypotonic stress signaling
            pathway to cation-chloride-coupled cotransporters
REFERENCE   7  (residues 1 to 545)
  AUTHORS   Piechotta K, Garbarini N, England R and Delpire E.
  TITLE     Characterization of the interaction of the stress kinase SPAK with
            the Na+-K+-2Cl- cotransporter in the nervous system: evidence for a
            scaffolding role of the kinase
  JOURNAL   J Biol Chem 278 (52), 52848-52856 (2003)
   PUBMED   14563843
REFERENCE   8  (residues 1 to 545)
  AUTHORS   Dowd BF and Forbush B.
  TITLE     PASK (proline-alanine-rich STE20-related kinase), a regulatory
            kinase of the Na-K-Cl cotransporter (NKCC1)
  JOURNAL   J Biol Chem 278 (30), 27347-27353 (2003)
   PUBMED   12740379
  REMARK    GeneRIF: roles in phosphorylation and activation of the Na-K-Cl
            cotransporter (NKCC1)
REFERENCE   9  (residues 1 to 545)
  AUTHORS   Qi H, Labrie Y, Grenier J, Fournier A, Fillion C and Labrie C.
  TITLE     Androgens induce expression of SPAK, a STE20/SPS1-related kinase,
            in LNCaP human prostate cancer cells
  JOURNAL   Mol Cell Endocrinol 182 (2), 181-192 (2001)
   PUBMED   11514053
REFERENCE   10 (residues 1 to 545)
  AUTHORS   Johnston AM, Naselli G, Gonez LJ, Martin RM, Harrison LC and
            DeAizpurua HJ.
  TITLE     SPAK, a STE20/SPS1-related kinase that activates the p38 pathway
  JOURNAL   Oncogene 19 (37), 4290-4297 (2000)
   PUBMED   10980603
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF099989.1, AC016723.11 and
            BF516344.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 30, 2006 this sequence version replaced NP_037365.1.
            
            Summary: This gene encodes a serine/threonine kinase that is
            thought to function in the cellular stress response pathway. The
            kinase is activated in response to hypotonic stress, leading to
            phosphorylation of several cation-chloride-coupled cotransporters.
            The catalytically active kinase specifically activates the p38 MAP
            kinase pathway, and its interaction with p38 decreases upon
            cellular stress, suggesting that this kinase may serve as an
            intermediate in the response to cellular stress. [provided by
            RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF099989.1, SRR1803616.266955.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355999.5/ ENSP00000348278.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..545
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.3"
     Protein         1..545
                     /product="STE20/SPS1-related proline-alanine-rich protein
                     kinase isoform 1"
                     /EC_number="2.7.11.1"
                     /note="serine threonine kinase 39 (STE20/SPS1 homolog,
                     yeast); Ste20-like protein kinase; small intestine
                     SPAK-like kinase; proline-alanine-rich STE20-related
                     kinase; STE20/SPS1-related proline-alanine-rich protein
                     kinase; ste-20-related kinase; serine/threonine-protein
                     kinase 39"
                     /calculated_mol_wt=59343
     Region          61..337
                     /region_name="STKc_OSR1_SPAK"
                     /note="Catalytic domain of the Serine/Threonine Kinases,
                     Oxidative stress response kinase and Ste20-related proline
                     alanine-rich kinase; cd06610"
                     /db_xref="CDD:270787"
     Site            order(69..73,77,90,92,122,138..141,144..145,148,192,
                     194..197,199,209..210,213,232..235,237,265,274)
                     /site_type="active"
                     /db_xref="CDD:270787"
     Site            order(69..73,77,90,92,122,138..141,144..145,148,194,
                     196..197,199,210)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270787"
     Site            order(72..73,192,194..196,213,232..235,237,265,274)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270787"
     Site            order(193..194,218..220,233..246,248..250,254,257..258,
                     261..262,265,271,278,281..283,285..286,320,322..323,325)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:270787"
     Site            order(209..222,229..237)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270787"
     Site            231
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000250|UniProtKB:Q9Z1W9; propagated from
                     UniProtKB/Swiss-Prot (Q9UEW8.3)"
     Site            309
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKC/PRKCQ.
                     /evidence=ECO:0000269|PubMed:14988727; propagated from
                     UniProtKB/Swiss-Prot (Q9UEW8.3)"
     Region          310..536
                     /region_name="Interaction with RELT.
                     /evidence=ECO:0000250|UniProtKB:Q9Z1W9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UEW8.3)"
     Site            349
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9UEW8.3)"
     Site            354
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UEW8.3)"
     Region          360..366
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UEW8.3)"
     Region          361..423
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UEW8.3)"
     Site            370
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087; propagated from
                     UniProtKB/Swiss-Prot (Q9UEW8.3)"
     Site            371
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087; propagated from
                     UniProtKB/Swiss-Prot (Q9UEW8.3)"
     Site            385
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17487921,
                     ECO:0007744|PubMed:18088087, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UEW8.3)"
     Region          387..391
                     /region_name="Caspase cleavage related site"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UEW8.3)"
     Site            393
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z1W9; propagated from
                     UniProtKB/Swiss-Prot (Q9UEW8.3)"
     Region          452..509
                     /region_name="OSR1_C"
                     /note="Oxidative-stress-responsive kinase 1 C-terminal
                     domain; pfam12202"
                     /db_xref="CDD:432397"
     CDS             1..545
                     /gene="STK39"
                     /gene_synonym="DCHT; PASK; SPAK"
                     /coded_by="NM_013233.3:161..1798"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS42770.1"
                     /db_xref="GeneID:27347"
                     /db_xref="HGNC:HGNC:17717"
                     /db_xref="MIM:607648"
ORIGIN      
        1 maepsgspvh vqlpqqaapv taaaaaapaa ataapapaap aapapapapa aqavgwpicr
       61 dayelqevig sgatavvqaa lckprqerva ikrinlekcq tsmdellkei qamsqcshpn
      121 vvtyytsfvv kdelwlvmkl lsggsmldii kyivnrgehk ngvleeaiia tilkevlegl
      181 dylhrngqih rdlkagnill gedgsvqiad fgvsaflatg gdvtrnkvrk tfvgtpcwma
      241 pevmeqvrgy dfkadmwsfg itaielatga apyhkyppmk vlmltlqndp ptletgvedk
      301 emmkkygksf rkllslclqk dpskrptaae llkckffqka knreyliekl ltrtpdiaqr
      361 akkvrrvpgs sghlhktedg dwewsddemd ekseegkaaf sqeksrrvke enpeiavsas
      421 tipeqiqsls vhdsqgppna nedyreassc avnlvlrlrn srkelndirf eftpgrdtad
      481 gvsqelfsag lvdghdvviv aanlqkivdd pkalktltfk lasgcdgsei pdevkligfa
      541 qlsvs
//
LOCUS       NP_001139184              97 aa            linear   PRI 24-DEC-2022
DEFINITION  nuclear protein 2 [Homo sapiens].
ACCESSION   NP_001139184 XP_001714485 XP_001714518 XP_001715755 XP_001719155
VERSION     NP_001139184.1
DBSOURCE    REFSEQ: accession NM_001145712.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 97)
  AUTHORS   Neira JL, Lopez MB, Sevilla P, Rizzuti B, Camara-Artigas A, Vidal M
            and Iovanna JL.
  TITLE     The chromatin nuclear protein NUPR1L is intrinsically disordered
            and binds to the same proteins as its paralogue
  JOURNAL   Biochem J 475 (14), 2271-2291 (2018)
   PUBMED   29925531
  REMARK    GeneRIF: NUPR1L hetero-associated with NUPR1 with an affinity of
            0.4 microM and interacted with the 'hot-spot' region of NUPR1.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 97)
  AUTHORS   Lopez MB, Garcia MN, Grasso D, Bintz J, Molejon MI, Velez G,
            Lomberk G, Neira JL, Urrutia R and Iovanna J.
  TITLE     Functional Characterization of Nupr1L, A Novel p53-Regulated
            Isoform of the High-Mobility Group (HMG)-Related Protumoral Protein
            Nupr1
  JOURNAL   J Cell Physiol 230 (12), 2936-2950 (2015)
   PUBMED   25899918
  REMARK    GeneRIF: Functional characterization of NUPR1L as a new p53-induced
            gene, which negatively regulates the protumoral factor NUPR1.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006970.6 and BC043523.1.
            On or before Mar 11, 2009 this sequence version replaced
            XP_001714518.1, XP_001714485.1, XP_001715755.1, XP_001719155.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC043523.1, SRR3476690.1011360.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000329309.4/ ENSP00000455442.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..97
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p11.2"
     Protein         1..97
                     /product="nuclear protein 2"
                     /note="nuclear transcriptional regulator 1-like protein;
                     nuclear protein, transcriptional regulator, 1-like;
                     nuclear transcriptional regulator protein 2"
                     /calculated_mol_wt=11225
     Region          26..83
                     /region_name="Phospho_p8"
                     /note="DNA-binding nuclear phosphoprotein p8; pfam10195"
                     /db_xref="CDD:431127"
     Region          76..97
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NF83.1)"
     CDS             1..97
                     /gene="NUPR2"
                     /gene_synonym="NUPR1L; P8"
                     /coded_by="NM_001145712.2:104..397"
                     /db_xref="CCDS:CCDS59058.1"
                     /db_xref="GeneID:389493"
                     /db_xref="HGNC:HGNC:44164"
ORIGIN      
        1 meapaeralp rlqalarppp pisyeeelyd cldyyylrdf pacgagrskg rtrreqalrt
       61 nwpapggher kvaqkllngq rkrrqrqlhp kmrtrlt
//
LOCUS       NP_942146                269 aa            linear   PRI 24-DEC-2022
DEFINITION  seven in absentia homolog 3 [Homo sapiens].
ACCESSION   NP_942146 XP_210264
VERSION     NP_942146.2
DBSOURCE    REFSEQ: accession NM_198849.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 269)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 269)
  AUTHORS   Li X, Chu SG, Shen XN, Hou XH, Xu W, Ou YN, Dong Q, Tan L and Yu
            JT.
  TITLE     Genome-wide association study identifies SIAH3 locus influencing
            the rate of ventricular enlargement in non-demented elders
  JOURNAL   Aging (Albany NY) 11 (21), 9862-9874 (2019)
   PUBMED   31711042
  REMARK    GeneRIF: Genome-wide association study identifies SIAH3 locus
            influencing the rate of ventricular enlargement in non-demented
            elders.
REFERENCE   3  (residues 1 to 269)
  AUTHORS   Pepper IJ, Van Sciver RE and Tang AH.
  TITLE     Phylogenetic analysis of the SINA/SIAH ubiquitin E3 ligase family
            in Metazoa
  JOURNAL   BMC Evol Biol 17 (1), 182 (2017)
   PUBMED   28784114
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 269)
  AUTHORS   Wang Y and Tatakis DN.
  TITLE     Human gingiva transcriptome during wound healing
  JOURNAL   J Clin Periodontol 44 (4), 394-402 (2017)
   PUBMED   28005267
  REMARK    GeneRIF: SIAH3 expression is significantly downregulated in human
            masticatory mucosa during wound healing
REFERENCE   5  (residues 1 to 269)
  AUTHORS   Hasson SA, Kane LA, Yamano K, Huang CH, Sliter DA, Buehler E, Wang
            C, Heman-Ackah SM, Hessa T, Guha R, Martin SE and Youle RJ.
  TITLE     High-content genome-wide RNAi screens identify regulators of parkin
            upstream of mitophagy
  JOURNAL   Nature 504 (7479), 291-295 (2013)
   PUBMED   24270810
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL157819.15, BC041372.2 and DA804734.1.
            On Jul 20, 2006 this sequence version replaced NP_942146.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC041372.2, DR000833.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000400405.4/ ENSP00000383256.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..269
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.13"
     Protein         1..269
                     /product="seven in absentia homolog 3"
                     /note="siah-3"
                     /calculated_mol_wt=30529
     Region          133..259
                     /region_name="Sina"
                     /note="Seven in absentia (Sina) protein family, C-terminal
                     substrate binding domain; composed of the Drosophila Sina
                     protein, the mammalian Sina homolog (Siah), the plant
                     protein SINAT5, and similar proteins. Sina, Siah and
                     SINAT5 are RING-containing proteins...; cd03829"
                     /db_xref="CDD:239753"
     Site            order(140..142,144,146,155..156)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:239753"
     Site            order(197,209..215,217,232..233,240,244)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:239753"
     CDS             1..269
                     /gene="SIAH3"
                     /coded_by="NM_198849.3:125..934"
                     /db_xref="CCDS:CCDS41883.1"
                     /db_xref="GeneID:283514"
                     /db_xref="HGNC:HGNC:30553"
                     /db_xref="MIM:615609"
ORIGIN      
        1 mlfftqcfga vldlihlrfq hykakrvfsa agqlvcvvnp thnlkyvssr ravtqsapeq
       61 gsfhphhlsh hhchhrhhhh lrhhahphhl hhqeaglhan pvtpclcmcp lfscqwegrl
      121 evvvphlrqi hrvdilqgae ivflatdmhl papadwiimh sclghhfllv lrkqerhegh
      181 pqffatmmli gtptqadcft yrlelnrnhr rlkweatprs vlecvdsvit dgdclvlnts
      241 laqlfsdngs laigiaitat evlpseaem
//
LOCUS       NP_060269                707 aa            linear   PRI 25-DEC-2022
DEFINITION  transmembrane protein 260 [Homo sapiens].
ACCESSION   NP_060269
VERSION     NP_060269.3
DBSOURCE    REFSEQ: accession NM_017799.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 707)
  AUTHORS   Pagnamenta AT, Jackson A, Perveen R, Beaman G, Petts G, Gupta A,
            Hyder Z, Chung BH, Kan AS, Cheung KW, Kerstjens-Frederikse WS,
            Abbott KM, Elpeleg O, Taylor JC, Banka S and Ta-Shma A.
  CONSRTM   Genomics England Research Consortium
  TITLE     Biallelic TMEM260 variants cause truncus arteriosus, with or
            without renal defects
  JOURNAL   Clin Genet 101 (1), 127-133 (2022)
   PUBMED   34612517
  REMARK    GeneRIF: Biallelic TMEM260 variants cause truncus arteriosus, with
            or without renal defects.
REFERENCE   2  (residues 1 to 707)
  AUTHORS   Ta-Shma A, Khan TN, Vivante A, Willer JR, Matak P, Jalas C,
            Pode-Shakked B, Salem Y, Anikster Y, Hildebrandt F, Katsanis N,
            Elpeleg O and Davis EE.
  TITLE     Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac,
            and Renal Syndrome
  JOURNAL   Am J Hum Genet 100 (4), 666-675 (2017)
   PUBMED   28318500
  REMARK    GeneRIF: Study showed that truncating mutations in TMEM260 cause a
            syndrome characterized by central nervous sustem, cardiac, renal,
            and axial skeletal defects. Notably, the homozygous truncating
            mutations found in the two families affected specifically one of
            the two splice isoforms generated by this locus, arguing
            specificity in the phenotypic driver.
REFERENCE   3  (residues 1 to 707)
  AUTHORS   Yang B, Liu C, Diao L, Wang C and Guo Z.
  TITLE     A polymorphism at the microRNA binding site in the 3' untranslated
            region of C14orf101 is associated with non-Hodgkin lymphoma overall
            survival
  JOURNAL   Cancer Genet 207 (4), 141-146 (2014)
   PUBMED   24831772
  REMARK    GeneRIF: Data indicate that rs4901706, located in the 3' UTR of
            C14orf101, was shown to be independently related to overall
            survival in non-Hodgkin lymphoma (NHL).
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK056291.1, AK023885.1, AL161757.4 and BX647387.1.
            On Apr 25, 2006 this sequence version replaced NP_060269.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.176013.1,
                                           SRR1803617.207447.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261556.11/ ENSP00000261556.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..707
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.3"
     Protein         1..707
                     /product="transmembrane protein 260"
                     /note="UPF0679 protein C14orf101"
                     /calculated_mol_wt=79406
     Site            28..48
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX78.3)"
     Region          52..206
                     /region_name="DUF2723"
                     /note="Protein of unknown function (DUF2723); pfam11028"
                     /db_xref="CDD:431617"
     Site            71..91
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX78.3)"
     Site            94..114
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX78.3)"
     Site            141..161
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX78.3)"
     Site            189..209
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX78.3)"
     Site            222..242
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX78.3)"
     Site            318..338
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX78.3)"
     Site            356..376
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX78.3)"
     CDS             1..707
                     /gene="TMEM260"
                     /gene_synonym="C14orf101; SHDRA"
                     /coded_by="NM_017799.4:118..2241"
                     /db_xref="CCDS:CCDS9727.2"
                     /db_xref="GeneID:54916"
                     /db_xref="HGNC:HGNC:20185"
                     /db_xref="MIM:617449"
ORIGIN      
        1 msphgdgrgq aqgravrvgl rrsggirggv avfaavaavf tftlppsvpg gdsgelitaa
       61 helgvahppg yplftlvakl aitlfpfgsi ayrvnllcgl fgavaasllf ftvfrlsgss
      121 aggilaagvf sfsrltwqws iaaevfslnn lfvgllmalt vhfeeaatak erskvakiga
      181 fccglslcnq htiilyvlci ipwilfqllk kkelslgsll klslyfsagl lpyvhlpiss
      241 ylnharwtwg dqttlqgflt hflreeygtf slakseigss mseillsqvt nmrtelsfni
      301 qalavcanic latkdrqnps lvwlftgmfc iyslffawra nldiskplfm gvverfwmqs
      361 navvavlagi glaavvsetn rvlnsnglqc lewlsatlfv vyqiysnysv cdqrtnyvid
      421 kfaknlltsm phdaiillrg dlpgnslrym hyceglrpdi slvdqemmty ewylpkmakh
      481 lpgvnfpgnr wnpvegilps gmvtfnlyhf levnkqketf vcigihegdp twkknyslwp
      541 wgscdklvpl eivfnpeewi kltksiynwt eeygrfdpss wesvaneemw qarmktpffi
      601 fnlaetahmp skvkaqlyaq aydlykeivy lqkehpvnwh knyaiacerm lrlqardadp
      661 evllsetirh frlysqkapn dpqqadilga lkhlrkelqs lrnrknv
//
LOCUS       NP_001356721             642 aa            linear   PRI 25-DEC-2022
DEFINITION  PWWP domain-containing DNA repair factor 3A isoform d [Homo
            sapiens].
ACCESSION   NP_001356721
VERSION     NP_001356721.1
DBSOURCE    REFSEQ: accession NM_001369792.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 642)
  AUTHORS   Huen MS, Huang J, Leung JW, Sy SM, Leung KM, Ching YP, Tsao SW and
            Chen J.
  TITLE     Regulation of chromatin architecture by the PWWP domain-containing
            DNA damage-responsive factor EXPAND1/MUM1
  JOURNAL   Mol Cell 37 (6), 854-864 (2010)
   PUBMED   20347427
  REMARK    GeneRIF: report the identification of the PWWP domain-containing
            protein EXPAND1/MUM1 as an architectural component of the
            chromatin, which in response to DNA damage serves as an accessory
            factor to promote cell survival.
REFERENCE   2  (residues 1 to 642)
  AUTHORS   Coulie PG, Lehmann F, Lethe B, Herman J, Lurquin C, Andrawiss M and
            Boon T.
  TITLE     A mutated intron sequence codes for an antigenic peptide recognized
            by cytolytic T lymphocytes on a human melanoma
  JOURNAL   Proc Natl Acad Sci U S A 92 (17), 7976-7980 (1995)
   PUBMED   7644523
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004623.2 and AC005329.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.168590.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144333, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..642
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..642
                     /product="PWWP domain-containing DNA repair factor 3A
                     isoform d"
                     /note="melanoma ubiquitous mutated protein; mutated
                     melanoma-associated antigen 1; PWWP domain-containing
                     protein MUM1; protein expandere; melanoma associated
                     antigen (mutated) 1; PWWP domain-containing DNA repair
                     factor 3A"
                     /calculated_mol_wt=70602
     Region          341..431
                     /region_name="PWWP_MUM1-like"
                     /note="PWWP domain found in mutated melanoma-associated
                     antigen 1 (MUM-1) and similar proteins; cd06080"
                     /db_xref="CDD:438967"
     Site            order(354,357,375)
                     /site_type="other"
                     /note="putative methyl-histone binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438967"
     Site            355..358
                     /site_type="other"
                     /note="PWWP sequence motif"
                     /db_xref="CDD:438967"
     CDS             1..642
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /coded_by="NM_001369792.1:732..2660"
                     /note="isoform d is encoded by transcript variant 6"
                     /db_xref="GeneID:84939"
                     /db_xref="HGNC:HGNC:29641"
ORIGIN      
        1 mvsasqnevp aapleelayr rslrvaldvl segsiwsqes sagtgradrs lrgkpmehvs
       61 spcdsnsssl prgdvlgssr phrrrpcvqq slsssftcek dpeckvdhkk glrksenprg
      121 plvlpaggga qdesgsrihh knwtlaskrg gnsaqkaslc lngsslsedd terdmgskgg
      181 swaapslpsg vreddpcana eghdpglplg sltappapep sacsepgecp akkrprldgs
      241 qrppavqlep maagaapspg pgpgpresvt prstarlgpp pshasadatr clpcpdsqkl
      301 ekecqssees mgsnsmrsil eedeedeepp rvllyheprs fevgmlvwhk hkkypfwpav
      361 vksvrqrdkk asvlyieghm npkmkgftvs lkslkhfdck ekqtllnqar edfnqdigwc
      421 vslitdyrvr lgcgsfagsf leyyaadisy pvrksiqqdv lgtklpqlsk gspeepvvgc
      481 plgqrqpcrk mlpdrsraar dranqklvey ivkakgaesh lrailksrkp srwlqtflss
      541 sqyvtcvety ledegqldlv vkylqgvyqe vgakvlqrtn gdrirfildv llpeaiicai
      601 savdevdykt aeekyikgps lsyrekeifd nqlleernrr rr
//
LOCUS       NP_001309264             217 aa            linear   PRI 25-DEC-2022
DEFINITION  RWD domain-containing protein 2A isoform b [Homo sapiens].
ACCESSION   NP_001309264 XP_005248705
VERSION     NP_001309264.1
DBSOURCE    REFSEQ: accession NM_001322335.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 217)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 217)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD,
            Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker
            DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP,
            Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY,
            Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman
            LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M,
            Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD,
            Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ,
            Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S,
            Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL,
            Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL,
            Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson
            CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK,
            Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR,
            Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M,
            Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A,
            Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K,
            Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore
            B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM,
            Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith
            M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G,
            Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A,
            Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL,
            Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt
            JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard
            T, Sulston JE, Dunham I, Rogers J and Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   3  (residues 1 to 217)
  AUTHORS   Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and
            Morton CC.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC377982.1, AK302978.1, BC104816.1, DA032938.1, CN414510.1,
            AJ420581.1 and AW197622.1.
            On Apr 9, 2016 this sequence version replaced XP_005248705.1.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 5' region, and it thus differs in its 5' UTR and initiates
            translation from a downstream in-frame start codon, compared to
            variant 1. The encoded isoform (b) is shorter at the N-terminus,
            compared to isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.57091.1,
                                           SRR1803613.185256.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..217
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.1"
     Protein         1..217
                     /product="RWD domain-containing protein 2A isoform b"
                     /note="RWD domain containing 2; RWD domain-containing
                     protein 2A"
                     /calculated_mol_wt=25173
     Region          <1..59
                     /region_name="RWD"
                     /note="RWD domain; cl02687"
                     /db_xref="CDD:413438"
     Region          84..206
                     /region_name="DUF1115"
                     /note="Protein of unknown function (DUF1115); pfam06544"
                     /db_xref="CDD:428998"
     CDS             1..217
                     /gene="RWDD2A"
                     /gene_synonym="dJ747H23.2; RWDD2"
                     /coded_by="NM_001322335.2:234..887"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="GeneID:112611"
                     /db_xref="HGNC:HGNC:21385"
ORIGIN      
        1 mphsypyval qlfgrsseld rhqqlllnkg ltsyigtfdp gelcvcaaiq wlqdnsasyf
       61 lnrklvyeps tqakpvkntf lrmwiyshhi yqqdlrkkil dvgkrldvtg fcmtgkpgii
      121 cvegfkehce efwhtirypn wkhisckhae svetegnged lrlfhsfeel lleahgdygl
      181 rndyhmnlgq fleflkkhks ehvfqilfgi eskssds
//
LOCUS       NP_001074924             338 aa            linear   PRI 25-DEC-2022
DEFINITION  P2Y purinoceptor 14 [Homo sapiens].
ACCESSION   NP_001074924
VERSION     NP_001074924.1
DBSOURCE    REFSEQ: accession NM_001081455.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 338)
  AUTHORS   Belardin LB, Legare C, Sullivan R, Belleannee C and Breton S.
  TITLE     Expression of the pro-inflammatory P2Y14 receptor in the
            non-vasectomized and vasectomized human epididymis
  JOURNAL   Andrology 10 (8), 1522-1539 (2022)
   PUBMED   36029226
  REMARK    GeneRIF: Expression of the pro-inflammatory P2Y14 receptor in the
            non-vasectomized and vasectomized human epididymis.
REFERENCE   2  (residues 1 to 338)
  AUTHORS   Mederacke I, Filliol A, Affo S, Nair A, Hernandez C, Sun Q,
            Hamberger F, Brundu F, Chen Y, Ravichandra A, Huebener P, Anke H,
            Shi H, Martinez Garcia de la Torre RA, Smith JR, Henderson NC,
            Vondran FWR, Rothlin CV, Baehre H, Tabas I, Sancho-Bru P and
            Schwabe RF.
  TITLE     The purinergic P2Y14 receptor links hepatocyte death to hepatic
            stellate cell activation and fibrogenesis in the liver
  JOURNAL   Sci Transl Med 14 (639), eabe5795 (2022)
   PUBMED   35385339
  REMARK    GeneRIF: The purinergic P2Y14 receptor links hepatocyte death to
            hepatic stellate cell activation and fibrogenesis in the liver.
REFERENCE   3  (residues 1 to 338)
  AUTHORS   Lintzmaier Petiz L, Glaser T, Scharfstein J, Ratajczak MZ and
            Ulrich H.
  TITLE     P2Y14 Receptor as a Target for Neutrophilia Attenuation in Severe
            COVID-19 Cases: From Hematopoietic Stem Cell Recruitment and
            Chemotaxis to Thrombo-inflammation
  JOURNAL   Stem Cell Rev Rep 17 (1), 241-252 (2021)
   PUBMED   33575962
  REMARK    GeneRIF: P2Y14 Receptor as a Target for Neutrophilia Attenuation in
            Severe COVID-19 Cases: From Hematopoietic Stem Cell Recruitment and
            Chemotaxis to Thrombo-inflammation.
            Review article
REFERENCE   4  (residues 1 to 338)
  AUTHORS   Katakura S, Takao T, Arase T, Yoshimasa Y, Tomisato S, Uchida S,
            Masuda H, Uchida H, Tanaka M and Maruyama T.
  TITLE     UDP-glucose, a cellular danger signal, and nucleotide receptor
            P2Y14 enhance the invasion of human extravillous trophoblast cells
  JOURNAL   Placenta 101, 194-203 (2020)
   PUBMED   33011563
  REMARK    GeneRIF: UDP-glucose, a cellular danger signal, and nucleotide
            receptor P2Y14 enhance the invasion of human extravillous
            trophoblast cells.
REFERENCE   5  (residues 1 to 338)
  AUTHORS   Khalafalla FG, Kayani W, Kassab A, Ilves K, Monsanto MM, Alvarez R
            Jr, Chavarria M, Norman B, Dembitsky WP and Sussman MA.
  TITLE     Empowering human cardiac progenitor cells by P2Y14 nucleotide
            receptor overexpression
  JOURNAL   J Physiol 595 (23), 7135-7148 (2017)
   PUBMED   28980705
  REMARK    GeneRIF: P2Y14R is downregulated in hCPCs derived from heart
            failure patients.  Augmenting P2Y14R expression levels in
            aged/diseased hCPCs antagonizes senescence and improves functional
            responses.
REFERENCE   6  (residues 1 to 338)
  AUTHORS   Muller CE.
  TITLE     P2-pyrimidinergic receptors and their ligands
  JOURNAL   Curr Pharm Des 8 (26), 2353-2369 (2002)
   PUBMED   12369950
  REMARK    Review article
REFERENCE   7  (residues 1 to 338)
  AUTHORS   Wittenberger T, Schaller HC and Hellebrand S.
  TITLE     An expressed sequence tag (EST) data mining strategy succeeding in
            the discovery of new G-protein coupled receptors
  JOURNAL   J Mol Biol 307 (3), 799-813 (2001)
   PUBMED   11273702
REFERENCE   8  (residues 1 to 338)
  AUTHORS   Chambers JK, Macdonald LE, Sarau HM, Ames RS, Freeman K, Foley JJ,
            Zhu Y, McLaughlin MM, Murdock P, McMillan L, Trill J, Swift A,
            Aiyar N, Taylor P, Vawter L, Naheed S, Szekeres P, Hervieu G, Scott
            C, Watson JM, Murphy AJ, Duzic E, Klein C, Bergsma DJ, Wilson S and
            Livi GP.
  TITLE     A G protein-coupled receptor for UDP-glucose
  JOURNAL   J Biol Chem 275 (15), 10767-10771 (2000)
   PUBMED   10753868
REFERENCE   9  (residues 1 to 338)
  AUTHORS   Joensuu T, Hamalainen R, Lehesjoki AE, de la Chapelle A and Sankila
            EM.
  TITLE     A sequence-ready map of the Usher syndrome type III critical region
            on chromosome 3q
  JOURNAL   Genomics 63 (3), 409-416 (2000)
   PUBMED   10704288
REFERENCE   10 (residues 1 to 338)
  AUTHORS   Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M and Kaziro Y.
  TITLE     Presence of three distinct molecular species of Gi protein alpha
            subunit. Structure of rat cDNAs and human genomic DNAs
  JOURNAL   J Biol Chem 263 (14), 6656-6664 (1988)
   PUBMED   2834384
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD110153.1, BC034989.2 and
            AC078816.16.
            
            Summary: The product of this gene belongs to the family of
            G-protein coupled receptors, which contains several receptor
            subtypes with different pharmacological selectivity for various
            adenosine and uridine nucleotides. This receptor is a P2Y
            purinergic receptor for UDP-glucose and other UDP-sugars coupled to
            G-proteins. It has been implicated in extending the known immune
            system functions of P2Y receptors by participating in the
            regulation of the stem cell compartment, and it may also play a
            role in neuroimmune function. Two transcript variants encoding the
            same protein have been identified for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.179795.1,
                                           SRR1660807.233773.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..338
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.1"
     Protein         1..338
                     /product="P2Y purinoceptor 14"
                     /note="G protein coupled receptor for UDP-glucose; P2Y14
                     receptor; P2Y(14) receptor; UDP-glucose receptor;
                     G-protein coupled receptor 105; purinergic receptor P2Y,
                     G-protein coupled, 14"
                     /calculated_mol_wt=38840
     Site            3
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15391.1)"
     Region          23..306
                     /region_name="7tmA_P2Y14"
                     /note="P2Y purinoceptor 14, member of the class A family
                     of seven-transmembrane G protein-coupled receptors;
                     cd15149"
                     /db_xref="CDD:320277"
     Region          23..50
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320277"
     Site            30..50
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15391.1)"
     Region          56..81
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320277"
     Site            56..76
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15391.1)"
     Site            order(90,94,98..99,102..103,106,149,152..153,156,160,
                     171..172,176,184,187..188,191,253,256,260,277)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:320277"
     Region          94..124
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320277"
     Site            97..117
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15391.1)"
     Region          136..158
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320277"
     Site            140..160
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15391.1)"
     Site            161
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15391.1)"
     Region          183..212
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320277"
     Site            189..209
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15391.1)"
     Region          226..256
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320277"
     Site            235..255
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15391.1)"
     Region          274..299
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320277"
     Site            279..299
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15391.1)"
     CDS             1..338
                     /gene="P2RY14"
                     /gene_synonym="BPR105; GPR105; P2Y14"
                     /coded_by="NM_001081455.2:260..1276"
                     /db_xref="CCDS:CCDS3156.1"
                     /db_xref="GeneID:9934"
                     /db_xref="HGNC:HGNC:16442"
                     /db_xref="MIM:610116"
ORIGIN      
        1 minststqpp descsqnlli tqqiipvlyc mvfiagilln gvsgwiffyv pssksfiiyl
       61 kniviadfvm sltfpfkilg dsglgpwqln vfvcrvsavl fyvnmyvsiv ffglisfdry
      121 ykivkplwts fiqsvsyskl lsvivwmlml llavpniilt nqsvrevtqi kcielkselg
      181 rkwhkasnyi fvaifwivfl llivfytait kkifkshlks srnstsvkkk ssrnifsivf
      241 vffvcfvpyh iaripytksq teahyscqsk eilrymkeft lllsaanvcl dpiiyfflcq
      301 pfreilckkl hiplkaqndl disrikrgnt tlestdtl
//
LOCUS       NP_064619                304 aa            linear   PRI 27-DEC-2022
DEFINITION  tRNA-uridine aminocarboxypropyltransferase 1 [Homo sapiens].
ACCESSION   NP_064619 XP_005254617
VERSION     NP_064619.2
DBSOURCE    REFSEQ: accession NM_020234.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 304)
  AUTHORS   Son HJ, Choi EJ, Yoo NJ and Lee SH.
  TITLE     Inactivating mutations of tumor suppressor genes KLOTHO and DTWD1
            in colorectal cancers
  JOURNAL   Pathol Res Pract 216 (2), 152816 (2020)
   PUBMED   31924336
  REMARK    GeneRIF: Inactivating mutations of tumor suppressor genes KLOTHO
            and DTWD1 in colorectal cancers.
REFERENCE   2  (residues 1 to 304)
  AUTHORS   Takakura M, Ishiguro K, Akichika S, Miyauchi K and Suzuki T.
  TITLE     Biogenesis and functions of aminocarboxypropyluridine in tRNA
  JOURNAL   Nat Commun 10 (1), 5542 (2019)
   PUBMED   31804502
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 304)
  AUTHORS   Clark SL, Adkins DE, Aberg K, Hettema JM, McClay JL, Souza RP and
            van den Oord EJ.
  TITLE     Pharmacogenomic study of side-effects for antidepressant treatment
            options in STAR*D
  JOURNAL   Psychol Med 42 (6), 1151-1162 (2012)
   PUBMED   22041458
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018927.6.
            On or before Aug 31, 2013 this sequence version replaced
            XP_005254617.1, NP_064619.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC032535.2, SRR7346977.496428.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..304
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.2"
     Protein         1..304
                     /product="tRNA-uridine aminocarboxypropyltransferase 1"
                     /EC_number="2.5.1.25"
                     /note="x 009 protein; DTW domain-containing protein 1"
                     /calculated_mol_wt=35117
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8N5C7.1)"
     Region          66..289
                     /region_name="DTW"
                     /note="DTW domain; pfam03942"
                     /db_xref="CDD:427603"
     Region          206..209
                     /region_name="DXTW"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N5C7.1)"
     CDS             1..304
                     /gene="DTWD1"
                     /gene_synonym="MDS009"
                     /coded_by="NM_020234.6:259..1173"
                     /db_xref="CCDS:CCDS10132.1"
                     /db_xref="GeneID:56986"
                     /db_xref="HGNC:HGNC:30926"
ORIGIN      
        1 mslnppiflk rseensskfv etkqsqttsi asedplqnlc lasqevlqka qqsgrskclk
       61 cggsrmfycy tcyvpvenvp ieqiplvklp lkidiikhpn etdgkstaih akllapefvn
      121 iytypcipey eekdhevali fpgpqsisik disfhlqkri qnnvrgkndd pdkpsfkrkr
      181 teeqefcdln dskckgttlk kiifidstwn qtnkiftder lqgllqvelk trktcfwrhq
      241 kgkpdtflst ieaiyyflvd yhtdilkeky rgqydnllff ysfmyqlikn akcsgdketg
      301 klth
//
LOCUS       NP_002774                419 aa            linear   PRI 27-DEC-2022
DEFINITION  pregnancy-specific beta-1-glycoprotein 7 isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_002774
VERSION     NP_002774.2
DBSOURCE    REFSEQ: accession NM_002783.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 419)
  AUTHORS   Kandel M, MacDonald TM, Walker SP, Cluver C, Bergman L, Myers J,
            Hastie R, Keenan E, Hannan NJ, Cannon P, Nguyen TV, Pritchard N,
            Tong S and Kaitu'u-Lino TJ.
  TITLE     PSG7 and 9 (Pregnancy-Specific beta-1 Glycoproteins 7 and 9): Novel
            Biomarkers for Preeclampsia
  JOURNAL   J Am Heart Assoc 11 (7), e024536 (2022)
   PUBMED   35322669
  REMARK    GeneRIF: PSG7 and 9 (Pregnancy-Specific beta-1 Glycoproteins 7 and
            9): Novel Biomarkers for Preeclampsia.
REFERENCE   2  (residues 1 to 419)
  AUTHORS   Camolotto S, Racca A, Rena V, Nores R, Patrito LC, Genti-Raimondi S
            and Panzetta-Dutari GM.
  TITLE     Expression and transcriptional regulation of individual
            pregnancy-specific glycoprotein genes in differentiating
            trophoblast cells
  JOURNAL   Placenta 31 (4), 312-319 (2010)
   PUBMED   20116096
REFERENCE   3  (residues 1 to 419)
  AUTHORS   van der Heul-Nieuwenhuijsen L, Dits N, Van Ijcken W, de Lange D and
            Jenster G.
  TITLE     The FOXF2 pathway in the human prostate stroma
  JOURNAL   Prostate 69 (14), 1538-1547 (2009)
   PUBMED   19562724
REFERENCE   4  (residues 1 to 419)
  AUTHORS   Endoh M, Kobayashi Y, Yamakami Y, Yonekura R, Fujii M and Ayusawa
            D.
  TITLE     Coordinate expression of the human pregnancy-specific glycoprotein
            gene family during induced and replicative senescence
  JOURNAL   Biogerontology 10 (2), 213-221 (2009)
   PUBMED   18792801
REFERENCE   5  (residues 1 to 419)
  AUTHORS   Beauchemin N, Draber P, Dveksler G, Gold P, Gray-Owen S, Grunert F,
            Hammarstrom S, Holmes KV, Karlsson A, Kuroki M, Lin SH, Lucka L,
            Najjar SM, Neumaier M, Obrink B, Shively JE, Skubitz KM, Stanners
            CP, Thomas P, Thompson JA, Virji M, von Kleist S, Wagener C, Watt S
            and Zimmermann W.
  TITLE     Redefined nomenclature for members of the carcinoembryonic antigen
            family
  JOURNAL   Exp Cell Res 252 (2), 243-249 (1999)
   PUBMED   11501563
REFERENCE   6  (residues 1 to 419)
  AUTHORS   Teglund S, Zhou GQ and Hammarstrom S.
  TITLE     Characterization of cDNA encoding novel pregnancy-specific
            glycoprotein variants
  JOURNAL   Biochem Biophys Res Commun 211 (2), 656-664 (1995)
   PUBMED   7794280
REFERENCE   7  (residues 1 to 419)
  AUTHORS   Khan WN, Teglund S, Bremer K and Hammarstrom S.
  TITLE     The pregnancy-specific glycoprotein family of the immunoglobulin
            superfamily: identification of new members and estimation of family
            size
  JOURNAL   Genomics 12 (4), 780-787 (1992)
   PUBMED   1572651
REFERENCE   8  (residues 1 to 419)
  AUTHORS   Leslie KK, Watanabe S, Lei KJ, Chou DY, Plouzek CA, Deng HC, Torres
            J and Chou JY.
  TITLE     Linkage of two human pregnancy-specific beta 1-glycoprotein genes:
            one is associated with hydatidiform mole
  JOURNAL   Proc Natl Acad Sci U S A 87 (15), 5822-5826 (1990)
   PUBMED   2377620
REFERENCE   9  (residues 1 to 419)
  AUTHORS   Khan WN and Hammarstrom S.
  TITLE     Identification of a new carcinoembryonic antigen (CEA) family
            member in human fetal liver--cloning and sequence determination of
            pregnancy-specific glycoprotein 7
  JOURNAL   Biochem Biophys Res Commun 168 (1), 214-225 (1990)
   PUBMED   2328001
REFERENCE   10 (residues 1 to 419)
  AUTHORS   Thompson J, Koumari R, Wagner K, Barnert S, Schleussner C, Schrewe
            H, Zimmermann W, Muller G, Schempp W, Zaninetta D et al.
  TITLE     The human pregnancy-specific glycoprotein genes are tightly linked
            on the long arm of chromosome 19 and are coordinately expressed
  JOURNAL   Biochem Biophys Res Commun 167 (2), 848-859 (1990)
   PUBMED   1690992
  REMARK    Erratum:[Biochem Biophys Res Commun 1990 May 16;168(3):1325]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093055.3, DC380850.1,
            BX952498.1, U18467.1, BG434892.1, AL546656.3, BC030979.1 and
            T29414.1.
            On Oct 2, 2007 this sequence version replaced NP_002774.1.
            
            Summary: This gene is a member of the pregnancy-specific
            glycoprotein (PSG) gene family. The PSG genes are a subgroup of the
            carcinoembryonic antigen (CEA) family of immunoglobulin-like genes,
            and are found in a gene cluster at 19q13.1-q13.2 telomeric to
            another cluster of CEA-related genes. The PSG genes are expressed
            by placental trophoblasts and released into the maternal
            circulation during pregnancy, and are thought to be essential for
            maintenance of normal pregnancy. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Feb 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longest isoform (1). This version of
            transcript variant 1 represents the protein-coding minor allele. A
            second version of transcript variant 1 represents the major allele
            of this polymorphic locus with a mismatch compared to the reference
            genome sequence.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U18467.1, BC030979.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162568 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000406070.7/ ENSP00000421986.1
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..419
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.31"
     Protein         1..419
                     /product="pregnancy-specific beta-1-glycoprotein 7 isoform
                     1 precursor"
                     /note="putative pregnancy-specific beta-1-glycoprotein 7;
                     pregnancy-specific glycoprotein 7"
                     /calculated_mol_wt=43367
     sig_peptide     1..34
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3678
     mat_peptide     35..419
                     /product="pregnancy-specific beta-1-glycoprotein 7 isoform
                     1"
                     /calculated_mol_wt=43367
     Region          36..127
                     /region_name="IgV_CEACAM_D1"
                     /note="First immunoglobulin (Ig)-like domain of
                     carcinoembryonic antigen (CEA) related cell adhesion
                     molecule (CEACAM); cd05774"
                     /db_xref="CDD:409430"
     Region          37..55
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409430"
     Region          37..39
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409430"
     Region          44..46
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409430"
     Region          49..56
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409430"
     Region          56..63
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409430"
     Site            61
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13046.3)"
     Region          64..69
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409430"
     Region          64..68
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409430"
     Region          70..91
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409430"
     Region          78..83
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409430"
     Region          88..91
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409430"
     Region          98..124
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409430"
     Region          98..103
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409430"
     Site            104
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13046.3)"
     Region          105..109
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409430"
     Site            111
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13046.3)"
     Region          119..124
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409430"
     Region          127..129
                     /region_name="Cell attachment site. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13046.3)"
     Region          148..236
                     /region_name="IgI_hCEACAM_2_4_6_like"
                     /note="Immunoglobulin (Ig)-like domain of human
                     carcinoembryonic antigen (CEA) related cell adhesion
                     molecule (CEACAM) domains 2, 4, and 6, and similar
                     domains; cd05740"
                     /db_xref="CDD:409402"
     Region          148..152
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409402"
     Region          155..160
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409402"
     Region          165..171
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409402"
     Region          178..183
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409402"
     Region          185..188
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409402"
     Region          192..196
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409402"
     Region          199..204
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409402"
     Site            199
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13046.3)"
     Site            209
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13046.3)"
     Region          214..222
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409402"
     Region          226..235
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409402"
     Region          241..329
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          258..262
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Site            268
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13046.3)"
     Region          271..275
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          293..297
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Site            303
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13046.3)"
     Region          307..312
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          322..325
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          338..413
                     /region_name="IgC2_CEACAM5-like"
                     /note="Fifth immunoglobulin (Ig)-like domain of the
                     carcinoembryonic antigen (CEA) related cell adhesion
                     molecule 5 (CEACAM5) and similar domains; member of the
                     C2-set IgSF domains; cd20948"
                     /db_xref="CDD:409540"
     Region          338..344
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409540"
     Region          349..356
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409540"
     Region          362..368
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409540"
     Region          371..376
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409540"
     Region          379..385
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409540"
     Region          388..399
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409540"
     Region          402..413
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409540"
     CDS             1..419
                     /gene="PSG7"
                     /gene_synonym="PS-beta-G-7; PSBG-7; PSG1; PSGGA"
                     /coded_by="NM_002783.3:132..1391"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1, coding"
                     /db_xref="GeneID:5676"
                     /db_xref="HGNC:HGNC:9524"
                     /db_xref="MIM:176396"
ORIGIN      
        1 mgplsappct qhitwkglll tasllnfwnp pttaqvtiea qppkvsegkd vlllvhnlpq
       61 nltgyiwykg qirdlyhyvt syivdgqiik ygpaysgret vysnaslliq nvtqedtgsy
      121 tlhiikrgdg tggvtgrftf tlyletpkps isssnfnpre ateaviltcd petpdasylw
      181 wmngqslpmt hslqlsetnr tlylfgvtny tagpyeceir npvsasrsdp vtlnllpklp
      241 kpyitinnln prenkdvstf tcepksenyt yiwwlngqsl pvsprvkrri enrililpsv
      301 trnetgpyqc eirdryggir sdpvtlnvly gpdlpriyps ftyyhsgqnl ylscfadsnp
      361 paqyswting kfqlsgqkls ipqittkhsg lyacsvrnsa tgkessksvt vrvsdwtlp
//
LOCUS       NP_001362929             395 aa            linear   PRI 27-DEC-2022
DEFINITION  general transcription factor IIH subunit 2-like protein isoform 1
            [Homo sapiens].
ACCESSION   NP_001362929
VERSION     NP_001362929.1
DBSOURCE    REFSEQ: accession NM_001376000.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 395)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 395)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (residues 1 to 395)
  AUTHORS   Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB,
            Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G,
            Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J,
            Graslund S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ
            and Greenblatt J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
REFERENCE   4  (residues 1 to 395)
  AUTHORS   Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L,
            Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard
            A, Glueck D, McGavran L, Berry R, Pollack J and Sikela JM.
  TITLE     Lineage-specific gene duplication and loss in human and great ape
            evolution
  JOURNAL   PLoS Biol 2 (7), E207 (2004)
   PUBMED   15252450
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC147575.1 and AC145102.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853559.25921.1,
                                           SRR14038194.1163700.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380729.8/ ENSP00000370105.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..395
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     Protein         1..395
                     /product="general transcription factor IIH subunit 2-like
                     protein isoform 1"
                     /note="general transcription factor IIH subunit 2-like
                     protein; general transcription factor IIH polypeptide
                     2-like protein; general transcription factor IIH,
                     polypeptide 2C"
                     /calculated_mol_wt=44321
     Region          11..385
                     /region_name="SSL1"
                     /note="RNA polymerase II transcription
                     initiation/nucleotide excision repair factor TFIIH,
                     subunit SSL1 [Transcription / DNA replication,
                     recombination, and repair]; COG5151"
                     /db_xref="CDD:227480"
     Region          56..235
                     /region_name="vWA_transcription_factor_IIH_type"
                     /note="Transcription factors IIH type: TFIIH is a
                     multiprotein complex that is one of the five general
                     transcription factors that binds RNA polymerase II
                     holoenzyme. Orthologues of these genes are found in all
                     completed eukaryotic genomes and all these proteins...;
                     cd01453"
                     /db_xref="CDD:238730"
     Site            order(66,68,144,178)
                     /site_type="active"
                     /note="partial metal ion-dependent adhesion site (MIDAS)
                     [active]"
                     /db_xref="CDD:238730"
     Site            95
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:A0JN27; propagated from
                     UniProtKB/Swiss-Prot (Q6P1K8.1)"
     CDS             1..395
                     /gene="GTF2H2C"
                     /gene_synonym="GTF2H2C_2"
                     /coded_by="NM_001376000.2:345..1532"
                     /note="isoform 1 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS43325.1"
                     /db_xref="GeneID:728340"
                     /db_xref="HGNC:HGNC:31394"
ORIGIN      
        1 mdeepertkr weggyertwe ilkedesgsl katiedilfk akrkrvfehh gqvrlgmmrh
       61 lyvvvdgsrt medqdlkpnr ltctlklley fveeyfdqnp isqigiivtk skraekltel
      121 sgnprkhits lkeavdmtch gepslynsls mamqtlkhmp ghtsrevlii fsslttcdps
      181 niydliktlk aakirvsvig lsaevrvctv laretggtyh vildeshyke llthhlsppp
      241 assssecsli rmgfpqhtia slsdqdakps fsmahldgnt epgltlggyf cpqcrakyce
      301 lpveckicgl tlvsaphlar syhhlfplda fqeipleeyn gerfcygcqg elkdqhvyvc
      361 avcqnvfcvd cdvfvhdslh ccpgcihkip apsgv
//
LOCUS       NP_001336144             486 aa            linear   PRI 28-DEC-2022
DEFINITION  E3 ubiquitin-protein ligase ARIH2 isoform d [Homo sapiens].
ACCESSION   NP_001336144
VERSION     NP_001336144.1
DBSOURCE    REFSEQ: accession NM_001349215.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 486)
  AUTHORS   Geng S, Peng W, Wang X, Hu X, Liang H, Hou J, Wang F, Zhao G, Lu M
            and Cui H.
  TITLE     ARIH2 regulates the proliferation, DNA damage and chemosensitivity
            of gastric cancer cells by reducing the stability of p21 via
            ubiquitination
  JOURNAL   Cell Death Dis 13 (6), 564 (2022)
   PUBMED   35732617
  REMARK    GeneRIF: ARIH2 regulates the proliferation, DNA damage and
            chemosensitivity of gastric cancer cells by reducing the stability
            of p21 via ubiquitination.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 486)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 486)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 486)
  AUTHORS   Huttenhain R, Xu J, Burton LA, Gordon DE, Hultquist JF, Johnson JR,
            Satkamp L, Hiatt J, Rhee DY, Baek K, Crosby DC, Frankel AD, Marson
            A, Harper JW, Alpi AF, Schulman BA, Gross JD and Krogan NJ.
  TITLE     ARIH2 Is a Vif-Dependent Regulator of CUL5-Mediated APOBEC3G
            Degradation in HIV Infection
  JOURNAL   Cell Host Microbe 26 (1), 86-99 (2019)
   PUBMED   31253590
  REMARK    GeneRIF: Here, using a quantitative proteomics approach, the
            authors identify the E3 ligase ARIH2 as a regulator of the HIV-1
            Vif protein-dependent CRL5-mediated APOBEC3 degradation. The
            CUL5(Vif/CBFss) complex recruits ARIH2 where it acts to transfer
            ubiquitin directly to the APOBEC3 targets.
REFERENCE   5  (residues 1 to 486)
  AUTHORS   Kelsall IR, Kristariyanto YA, Knebel A, Wood NT, Kulathu Y and Alpi
            AF.
  TITLE     Coupled monoubiquitylation of the co-E3 ligase DCNL1 by Ariadne-RBR
            E3 ubiquitin ligases promotes cullin-RING ligase complex remodeling
  JOURNAL   J Biol Chem 294 (8), 2651-2664 (2019)
   PUBMED   30587576
  REMARK    GeneRIF: ubiquitin-associated (UBA) domain-containing DCNL1 is
            monoubiquitylated when bound to CRLs and that this
            monoubiquitylation depends on the CRL-associated Ariadne RBR
            ligases TRIAD1 (ARIH2) and HHARI (ARIH1) and strictly requires the
            DCNL1's UBA domain.
REFERENCE   6  (residues 1 to 486)
  AUTHORS   Marteijn JA, van der Meer LT, van Emst L, van Reijmersdal S,
            Wissink W, de Witte T, Jansen JH and Van der Reijden BA.
  TITLE     Gfi1 ubiquitination and proteasomal degradation is inhibited by the
            ubiquitin ligase Triad1
  JOURNAL   Blood 110 (9), 3128-3135 (2007)
   PUBMED   17646546
  REMARK    GeneRIF: The fine-tuning of Gfi1 protein levels regulated by Triad1
            defines an unexpected role for this protein in hematopoiesis.
REFERENCE   7  (residues 1 to 486)
  AUTHORS   Marteijn JA, van Emst L, Erpelinck-Verschueren CA, Nikoloski G,
            Menke A, de Witte T, Lowenberg B, Jansen JH and van der Reijden BA.
  TITLE     The E3 ubiquitin-protein ligase Triad1 inhibits clonogenic growth
            of primary myeloid progenitor cells
  JOURNAL   Blood 106 (13), 4114-4123 (2005)
   PUBMED   16118314
  REMARK    GeneRIF: proteasomal degradation of proteins that are ubiquitinated
            by Triad1 affects the clonogenic growth of primary myeloid
            progenitor cells
REFERENCE   8  (residues 1 to 486)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   9  (residues 1 to 486)
  AUTHORS   Aguilera M, Oliveros M, Martinez-Padron M, Barbas JA and Ferrus A.
  TITLE     Ariadne-1: a vital Drosophila gene is required in development and
            defines a new conserved family of ring-finger proteins
  JOURNAL   Genetics 155 (3), 1231-1244 (2000)
   PUBMED   10880484
REFERENCE   10 (residues 1 to 486)
  AUTHORS   van der Reijden BA, Erpelinck-Verschueren CA, Lowenberg B and
            Jansen JH.
  TITLE     TRIADs: a new class of proteins with a novel cysteine-rich
            signature
  JOURNAL   Protein Sci 8 (7), 1557-1561 (1999)
   PUBMED   10422847
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC134028.10 and AC137630.9.
            
            Summary: The protein encoded by this gene is an E3
            ubiquitin-protein ligase that polyubiquitinates some proteins,
            tagging them for degradation. The encoded protein upregulates p53
            in some cancer cells and may inhibit myelopoiesis. Several
            transcript variants encoding different isoforms have been found for
            this gene, although the full-length nature of some of them have not
            been determined yet. [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (10) encodes isoform d.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.210329.1,
                                           SRR3476690.627761.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..486
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..486
                     /product="E3 ubiquitin-protein ligase ARIH2 isoform d"
                     /EC_number="2.3.2.31"
                     /note="ariadne homolog 2; all-trans retinoic acid
                     inducible RING finger; protein ariadne-2 homolog; E3
                     ubiquitin-protein ligase ARIH2; RING-type E3 ubiquitin
                     transferase ARIH2"
                     /calculated_mol_wt=56147
     Region          137..190
                     /region_name="RING-HC_RBR_TRIAD1"
                     /note="RING finger, HC subclass, found in two RING fingers
                     and DRIL [double RING finger linked] 1 (TRIAD1); cd16773"
                     /db_xref="CDD:438429"
     Region          217..288
                     /region_name="BRcat_RBR_TRIAD1"
                     /note="BRcat domain found in two RING fingers and DRIL
                     [double RING finger linked] 1 (TRIAD1); cd20344"
                     /db_xref="CDD:439005"
     Region          292..347
                     /region_name="Rcat_RBR_TRIAD1"
                     /note="Rcat domain found in two RING fingers and DRIL
                     [double RING finger linked] 1 (TRIAD1); cd20360"
                     /db_xref="CDD:439021"
     CDS             1..486
                     /gene="ARIH2"
                     /gene_synonym="ARI2; TRIAD1"
                     /coded_by="NM_001349215.2:319..1779"
                     /note="isoform d is encoded by transcript variant 10"
                     /db_xref="GeneID:10425"
                     /db_xref="HGNC:HGNC:690"
                     /db_xref="MIM:605615"
ORIGIN      
        1 msvdmnsqgs dsneedydpn ceeeeeeeed dpgdiedyyv gvasdveqqg adafdpeeyq
       61 ftcltykese galnehmtsl asvlkvshsv aklilvnfhw qvseildryk snsaqllvea
      121 rvqpnpskhv ptshpphhca vcmqfvrken llslacqhqf crscweqhcs vlvkdgvgvg
      181 vscmaqdcpl rtpedfvfpl lpneelreky rrylfrdyve shyqlqlcpg adcpmvirvq
      241 eprarrvqcn rcnevfcfkc rqmyhaptdc atirkwltkc addsetanyi sahtkdcpkc
      301 nicieknggc nhmqcskckh dfcwmclgdw kthgseyyec srykenpdiv nqsqqaqare
      361 alkkylfyfe rwenhnkslq leaqtyqrih ekiqervmnn lgtwidwqyl qnaakllakv
      421 psllsccsvd tpcntpthmh itwspdpgrs clntsrlswr lrsktshgkw svqtamtegt
      481 wrtrci
//
LOCUS       NP_001229798             191 aa            linear   PRI 29-DEC-2022
DEFINITION  SLAIN motif-containing protein 1 isoform D [Homo sapiens].
ACCESSION   NP_001229798
VERSION     NP_001229798.1
DBSOURCE    REFSEQ: accession NM_001242869.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 191)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 191)
  AUTHORS   Hirst CE, Ng ES, Azzola L, Voss AK, Thomas T, Stanley EG and
            Elefanty AG.
  TITLE     Transcriptional profiling of mouse and human ES cells identifies
            SLAIN1, a novel stem cell gene
  JOURNAL   Dev Biol 293 (1), 90-103 (2006)
   PUBMED   16546155
  REMARK    GeneRIF: Expressed at the stem cell and epiblast stages of
            embryonic stem cell differentiation.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA343547.1, AK289600.1 and DA096260.1.
            
            Transcript Variant: This variant (4) differs in the 5' UTR, lacks a
            portion of the 5' coding region, uses a downstream in-frame start
            codon, and lacks an internal in-frame coding exon, compared to
            variant 1. The encoded isoform (D) is shorter at the N-terminus and
            lacks an internal segment, compared to isoform A. Both variants 4
            and 5 encode isoform D.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK289600.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..191
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q22.3"
     Protein         1..191
                     /product="SLAIN motif-containing protein 1 isoform D"
                     /note="SLAIN motif-containing protein 1"
                     /calculated_mol_wt=20414
     Region          <20..191
                     /region_name="SLAIN"
                     /note="SLAIN motif-containing family; pfam15301"
                     /db_xref="CDD:434611"
     CDS             1..191
                     /gene="SLAIN1"
                     /gene_synonym="C13orf32"
                     /coded_by="NM_001242869.2:462..1037"
                     /note="isoform D is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS55901.1"
                     /db_xref="GeneID:122060"
                     /db_xref="HGNC:HGNC:26387"
                     /db_xref="MIM:610491"
ORIGIN      
        1 mgyklqdltd vqimarlqee nklrrsmpnl armpsttais snisspvtvr nsqsfdsslh
       61 gagngisriq scipspgqlq hrvhsvghfp vsirqplkat ayvsptvqgs snmplsnglq
      121 lysntgiptp nkaaasgimg rsalprpsla ingsnlprsk iaqpvrsflq ppkplsslst
      181 lrdgnwrdgc y
//
LOCUS       NP_001008860             360 aa            linear   PRI 29-DEC-2022
DEFINITION  magnesium transporter NIPA2 isoform a [Homo sapiens].
ACCESSION   NP_001008860
VERSION     NP_001008860.1
DBSOURCE    REFSEQ: accession NM_001008860.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 360)
  AUTHORS   Zhao W, Zhang WL, Yang B, Sun J and Yang MW.
  TITLE     NIPA2 regulates osteoblast function via its effect on apoptosis
            pathways in type 2 diabetes osteoporosis
  JOURNAL   Biochem Biophys Res Commun 513 (4), 883-890 (2019)
   PUBMED   31003774
  REMARK    GeneRIF: AGEs dose-dependently down-regulated the expression of
            NIPA2 in osteoblasts. NIPA2 also regulated osteoblast apoptosis by
            affecting the intracellular magnesium level and further affecting
            the osteogenic capacity of osteoblasts.
REFERENCE   2  (residues 1 to 360)
  AUTHORS   Xie H, Zhang Y, Zhang P, Wang J, Wu Y, Wu X, Netoff T and Jiang Y.
  TITLE     Functional study of NIPA2 mutations identified from the patients
            with childhood absence epilepsy
  JOURNAL   PLoS One 9 (10), e109749 (2014)
   PUBMED   25347071
  REMARK    GeneRIF: This study primarily reveals that a selective magnesium
            transporter NIPA2 may play a role in the pathogenesis of CAE.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 360)
  AUTHORS   Jiang Y, Zhang Y, Zhang P, Sang T, Zhang F, Ji T, Huang Q, Xie H,
            Du R, Cai B, Zhao H, Wang J, Wu Y, Wu H, Xu K, Liu X, Chan P and Wu
            X.
  TITLE     NIPA2 located in 15q11.2 is mutated in patients with childhood
            absence epilepsy
  JOURNAL   Hum Genet 131 (7), 1217-1224 (2012)
   PUBMED   22367439
  REMARK    GeneRIF: mutations in NIPA2 gene were associated with childhood
            absence epilepsy (CAE), which indicated that the haploinsufficiency
            of NIPA2 might be a candidate mechanism underlying the IGE/CAE
            phenotypes caused by 15q11.2 microdeletions or rare mutations in
            NIPA2
REFERENCE   4  (residues 1 to 360)
  AUTHORS   Quamme GA.
  TITLE     Molecular identification of ancient and modern mammalian magnesium
            transporters
  JOURNAL   Am J Physiol Cell Physiol 298 (3), C407-C429 (2010)
   PUBMED   19940067
  REMARK    Review article
REFERENCE   5  (residues 1 to 360)
  AUTHORS   Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T,
            Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen
            KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT,
            Breuning M and van Ravenswaaij-Arts CM.
  TITLE     Nine patients with a microdeletion 15q11.2 between breakpoints 1
            and 2 of the Prader-Willi critical region, possibly associated with
            behavioural disturbances
  JOURNAL   Eur J Med Genet 52 (2-3), 108-115 (2009)
   PUBMED   19328872
REFERENCE   6  (residues 1 to 360)
  AUTHORS   Bittel DC, Kibiryeva N and Butler MG.
  TITLE     Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and
            behavioral outcomes in Prader-Willi syndrome
  JOURNAL   Pediatrics 118 (4), e1276-e1283 (2006)
   PUBMED   16982806
  REMARK    GeneRIF: quantitated mRNA levels of NIPA2, NIPA2,l CYFIP1, and GCP5
            in Prader-Willi syndrome and correlated levels with psychological
            and behavior scales
REFERENCE   7  (residues 1 to 360)
  AUTHORS   Lefevre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M,
            Lathrop M, Prud'homme JF and Fischer J.
  TITLE     Mutations in ichthyin a new gene on chromosome 5q33 in a new form
            of autosomal recessive congenital ichthyosis
  JOURNAL   Hum Mol Genet 13 (20), 2473-2482 (2004)
   PUBMED   15317751
REFERENCE   8  (residues 1 to 360)
  AUTHORS   Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A,
            Eichler EE and Nicholls RD.
  TITLE     Identification of four highly conserved genes between breakpoint
            hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes
            deletion region that have undergone evolutionary transposition
            mediated by flanking duplicons
  JOURNAL   Am J Hum Genet 73 (4), 898-925 (2003)
   PUBMED   14508708
  REMARK    GeneRIF: located in the genomic domain between break points 1 and 2
            on chromosome 15, of the Prader-Willi/Angelman syndromes
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA082125.1, BK001120.1,
            R56244.1 and AC011767.12.
            
            Summary: This gene encodes a possible magnesium transporter. This
            gene is located adjacent to the imprinted domain in the
            Prader-Willi syndrome deletion region of chromosome 15. Alternate
            splicing results in multiple transcript variants. Pseudogenes of
            this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq,
            May 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BK001120.1, SRR11853565.9340.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..360
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.2"
     Protein         1..360
                     /product="magnesium transporter NIPA2 isoform a"
                     /note="magnesium transporter NIPA2; non-imprinted in
                     Prader-Willi/Angelman syndrome region protein 2; non
                     imprinted in Prader-Willi/Angelman syndrome 2"
                     /calculated_mol_wt=39054
     Region          8..302
                     /region_name="Mg_trans_NIPA"
                     /note="Magnesium transporter NIPA; pfam05653"
                     /db_xref="CDD:398984"
     Site            10..30
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            57..77
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            79..99
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            108..128
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            150..170
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            176..196
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            216..236
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            247..267
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            279..299
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     CDS             1..360
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /coded_by="NM_001008860.3:486..1568"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS73693.1"
                     /db_xref="GeneID:81614"
                     /db_xref="HGNC:HGNC:17044"
                     /db_xref="MIM:608146"
ORIGIN      
        1 msqgrgkydf yiglglamss sifiggsfil kkkgllrlar kgsmragqgg haylkewlww
       61 agllsmgage vanfaayafa patlvtplga lsvlvsails syflnerlnl hgkigcllsi
      121 lgstvmviha pkeeeietln emshklgdpg fvvfatlvvi valilifvvg prhgqtnilv
      181 yiticsviga fsvscvkglg iaikelfagk pvlrhplawi lllslivcvs tqinylnral
      241 difntsivtp iyyvffttsv ltcsailfke wqdmpvddvi gtlsgfftii vgifllhafk
      301 dvsfslaslp vsfrkdekam ngnlsnmyev lnnneesltc gieqhtgenv srrngnltaf
//
LOCUS       NP_001096073             818 aa            linear   PRI 30-DEC-2022
DEFINITION  zinc finger protein 160 isoform a [Homo sapiens].
ACCESSION   NP_001096073
VERSION     NP_001096073.1
DBSOURCE    REFSEQ: accession NM_001102603.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 818)
  AUTHORS   Takahashi K, Sugi Y, Hosono A and Kaminogawa S.
  TITLE     Epigenetic regulation of TLR4 gene expression in intestinal
            epithelial cells for the maintenance of intestinal homeostasis
  JOURNAL   J Immunol 183 (10), 6522-6529 (2009)
   PUBMED   19846881
  REMARK    GeneRIF: TLR4 gene transcription was repressed by epigenetic
            regulations, which were, at least in part, dependent on ZNF160.
REFERENCE   2  (residues 1 to 818)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   3  (residues 1 to 818)
  AUTHORS   Mark C, Looman C, Abrink M and Hellman L.
  TITLE     Molecular cloning and preliminary functional analysis of two novel
            human KRAB zinc finger proteins, HKr18 and HKr19
  JOURNAL   DNA Cell Biol 20 (5), 275-286 (2001)
   PUBMED   11410164
REFERENCE   4  (residues 1 to 818)
  AUTHORS   Hattori A, Okumura K, Nagase T, Kikuno R, Hirosawa M and Ohara O.
  TITLE     Characterization of long cDNA clones from human adult spleen
  JOURNAL   DNA Res 7 (6), 357-366 (2000)
   PUBMED   11214971
REFERENCE   5  (residues 1 to 818)
  AUTHORS   Abrink M, Aveskogh M and Hellman L.
  TITLE     Isolation of cDNA clones for 42 different Kruppel-related zinc
            finger proteins expressed in the human monoblast cell line U-937
  JOURNAL   DNA Cell Biol 14 (2), 125-136 (1995)
   PUBMED   7865130
REFERENCE   6  (residues 1 to 818)
  AUTHORS   Halford S, Mattei MG, Daw S and Scambler PJ.
  TITLE     A novel C2H2 zinc-finger protein gene (ZNF160) maps to human
            chromosome 19q13.3-q13.4
  JOURNAL   Genomics 25 (1), 322-323 (1995)
   PUBMED   7774943
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA230397.1, BC094880.1 and
            AC010328.4.
            
            Summary: The protein encoded by this gene is a Kruppel-related zinc
            finger protein which is characterized by the presence of an
            N-terminal repressor domain, the Kruppel-associated box (KRAB). The
            KRAB domain is a potent repressor of transcription; thus this
            protein may function in transcription regulation. Multiple
            transcript variants have been found for this gene. [provided by
            RefSeq, Apr 2016].
            
            Transcript Variant: This variant (3), as well as variants 1-2, and
            4-12, encodes isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853558.13260.1,
                                           SRR18074968.696157.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467144, SAMEA2467148
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41-q13.42"
     Protein         1..818
                     /product="zinc finger protein 160 isoform a"
                     /note="KRAB zinc finger protein KR18; zinc finger protein
                     5; zinc finger protein Kr18; zinc finger protein HZF5"
                     /calculated_mol_wt=93981
     Region          8..68
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          <216..332
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          259..279
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          287..307
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          315..335
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(320,322,324,326..327,330..331,334,348,350,354..355,
                     358..359,362,376,378,380,382..383,386..387,390)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          327..351
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          343..363
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          367..810
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          371..391
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          399..419
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          427..447
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          455..475
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          483..503
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(488,490,492,494..495,498..499,502,516,518,522..523,
                     526..527,530,544,546,548,550..551,554..555,558)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          511..531
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          539..559
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          567..587
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          595..615
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          623..643
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(628,630,632,634..635,638..639,642,656,658,662..663,
                     666..667,670,684,686,688,690..691,694..695,698)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          651..671
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          679..699
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          707..727
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          735..755
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          763..783
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          791..811
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..818
                     /gene="ZNF160"
                     /gene_synonym="F11; HKr18; HZF5; KR18"
                     /coded_by="NM_001102603.2:405..2861"
                     /note="isoform a is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS12859.1"
                     /db_xref="GeneID:90338"
                     /db_xref="HGNC:HGNC:12948"
                     /db_xref="MIM:600398"
ORIGIN      
        1 maltqvrltf rdvaiefsqe ewkcldpaqr ilyrdvmlen ywnlvslglc hfdmniisml
       61 eegkepwtvk scvkiarkpr tpecvkgvvt dippkctikd llpkeksste avfhtvvler
      121 hespdiedfs fkepqknvhd fecqwrddtg nykgvlmaqk egkrdqrdrr dienklmnnq
      181 lgvsfhshlp elqlfqgegk myecnqveks tnngssvspl qqipssvqth rskkyhelnh
      241 fslltqrrka nscgkpykcn ecgkaftqns nltshrrihs gekpykcsec gktftvrsnl
      301 tihqvihtge kpykchecgk vfrhnsylat hrrihtgekp ykcnecgkaf rghsnltthq
      361 lihtgekpfk cnecgklftq nshlishwri htgekpykcn ecgkafsvrs slaihqtiht
      421 gekpykcnec gkvfrynsyl grhrrvhtge kpykcnecgk afsmhsnlat hqvihtgtkp
      481 fkcnecskvf tqnsqlanhr rihtgekpyk cnecgkafsv rssltthqai hsgekpykci
      541 ecgksftqks hlrshrgihs gekpykcnec gkvfaqtsql arhwrvhtge kpykcndcgr
      601 afsdrssltf hqaihtgekp ykchecgkvf rhnsylathr rihtgekpyk cnecgkafsm
      661 hsnltthkvi htgekpykcn qcgkvftqns hlanhqrtht gekpyrcnec gkafsvrssl
      721 tthqaihtgk kpykcnecgk vftqnahlan hrrihtgekp yrctecgkaf rvrssltthm
      781 aihtgekryk cnecgkvfrq ssnlashhrm htgekpyk
//
LOCUS       NP_001303932             183 aa            linear   PRI 31-DEC-2022
DEFINITION  ly6/PLAUR domain-containing protein 6B isoform b precursor [Homo
            sapiens].
ACCESSION   NP_001303932 XP_005246365
VERSION     NP_001303932.1
DBSOURCE    REFSEQ: accession NM_001317003.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 183)
  AUTHORS   Paramonov AS, Kocharovskaya MV, Tsarev AV, Kulbatskii DS,
            Loktyushov EV, Shulepko MA, Kirpichnikov MP, Lyukmanova EN and
            Shenkarev ZO.
  TITLE     Structural Diversity and Dynamics of Human Three-Finger Proteins
            Acting on Nicotinic Acetylcholine Receptors
  JOURNAL   Int J Mol Sci 21 (19), 7280 (2020)
   PUBMED   33019770
  REMARK    GeneRIF: Structural Diversity and Dynamics of Human Three-Finger
            Proteins Acting on Nicotinic Acetylcholine Receptors.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 183)
  AUTHORS   Ochoa V, George AA, Nishi R and Whiteaker P.
  TITLE     The prototoxin LYPD6B modulates heteromeric alpha3beta4-containing
            nicotinic acetylcholine receptors, but not alpha7 homomers
  JOURNAL   FASEB J 30 (3), 1109-1119 (2016)
   PUBMED   26586467
REFERENCE   3  (residues 1 to 183)
  CONSRTM   Cross-Disorder Group of the Psychiatric Genomics Consortium
  TITLE     Identification of risk loci with shared effects on five major
            psychiatric disorders: a genome-wide analysis
  JOURNAL   Lancet 381 (9875), 1371-1379 (2013)
   PUBMED   23453885
  REMARK    Erratum:[Lancet. 2013 Apr 20;381(9875):1360]
REFERENCE   4  (residues 1 to 183)
  AUTHORS   Ni J, Lang Q, Bai M, Zhong C, Chen X, Wan B and Yu L.
  TITLE     Cloning and characterization of a human LYPD7, a new member of the
            Ly-6 superfamily
  JOURNAL   Mol Biol Rep 36 (4), 697-703 (2009)
   PUBMED   18360792
  REMARK    GeneRIF: LYPD7 was especially highly expressed in testis, lung,
            stomach, and prostate.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073271.4 and AC009230.3.
            On Nov 6, 2015 this sequence version replaced XP_005246365.1.
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (b) has the same
            N- and C-termini but is shorter compared to isoform a. Variants 3,
            4, and 5 all encode the same isoform (b).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC018203.1, SRR14038196.764154.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..183
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q23.2"
     Protein         1..183
                     /product="ly6/PLAUR domain-containing protein 6B isoform b
                     precursor"
                     /note="cancer/testis antigen 116; ly6/PLAUR
                     domain-containing protein 6B"
                     /calculated_mol_wt=16327
     sig_peptide     1..39
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NI32.1)"
                     /calculated_mol_wt=4347
     Region          53..158
                     /region_name="UPAR_LY6_2"
                     /note="Ly6/PLAUR domain-containing protein 6, Lypd6;
                     pfam16975"
                     /db_xref="CDD:435685"
     Region          60..154
                     /region_name="Sufficient for inhibiting alpha-7 nAChR
                     currents. /evidence=ECO:0000269|PubMed:34631692"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NI32.1)"
     CDS             1..183
                     /gene="LYPD6B"
                     /gene_synonym="CT116; LYPD7"
                     /coded_by="NM_001317003.2:170..721"
                     /note="isoform b precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS82519.1"
                     /db_xref="GeneID:130576"
                     /db_xref="HGNC:HGNC:27018"
ORIGIN      
        1 mlykssdrpa hkvsmlllch alaiavvqiv ifseswafak ninfynvrpp ldptpfpnsf
       61 kcftcenagd nyncnrwaed kwcpqntqyc ltvhhftshg rstsitkkca srsechfvgc
      121 hhsrdsehte crsccegmic nvelptnhtn avfavmhaqr tsgssaptly lpvlawvfvl
      181 pll
//
LOCUS       NP_001381199            1100 aa            linear   PRI 31-DEC-2022
DEFINITION  sorbin and SH3 domain-containing protein 2 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001381199
VERSION     NP_001381199.1
DBSOURCE    REFSEQ: accession NM_001394270.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1100)
  AUTHORS   Chen Q, Xu J and Zhu M.
  TITLE     miR-18a-5p Facilitates Malignant Progression of Head and Neck
            Squamous Cell Carcinoma Cells via Modulating SORBS2
  JOURNAL   Comput Math Methods Med 2021, 5953881 (2021)
   PUBMED   34707683
  REMARK    GeneRIF: miR-18a-5p Facilitates Malignant Progression of Head and
            Neck Squamous Cell Carcinoma Cells via Modulating SORBS2.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1100)
  AUTHORS   Liang F, Wang B, Geng J, You G, Fa J, Zhang M, Sun H, Chen H, Fu Q,
            Zhang X and Zhang Z.
  TITLE     SORBS2 is a genetic factor contributing to cardiac malformation of
            4q deletion syndrome patients
  JOURNAL   Elife 10, e67481 (2021)
   PUBMED   34099102
  REMARK    GeneRIF: SORBS2 is a genetic factor contributing to cardiac
            malformation of 4q deletion syndrome patients.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1100)
  AUTHORS   An J, Wang H, Ma X, Hu B, Yan Y, Yan Y and Su Z.
  TITLE     Musk ketone induces apoptosis of gastric cancer cells via
            downregulation of sorbin and SH3 domain containing 2
  JOURNAL   Mol Med Rep 23 (6) (2021)
   PUBMED   33880576
  REMARK    GeneRIF: Musk ketone induces apoptosis of gastric cancer cells via
            downregulation of sorbin and SH3 domain containing 2.
REFERENCE   4  (residues 1 to 1100)
  AUTHORS   Lv Q, Dong F, Zhou Y, Cai Z and Wang G.
  TITLE     RNA-binding protein SORBS2 suppresses clear cell renal cell
            carcinoma metastasis by enhancing MTUS1 mRNA stability
  JOURNAL   Cell Death Dis 11 (12), 1056 (2020)
   PUBMED   33311452
  REMARK    GeneRIF: RNA-binding protein SORBS2 suppresses clear cell renal
            cell carcinoma metastasis by enhancing MTUS1 mRNA stability.
            Erratum:[Cell Death Dis. 2021 Nov 8;12(11):1062. PMID: 34750363]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1100)
  AUTHORS   Nakayama M, Kikuno R and Ohara O.
  TITLE     Protein-protein interactions between large proteins: two-hybrid
            screening using a functionally classified library composed of long
            cDNAs
  JOURNAL   Genome Res 12 (11), 1773-1784 (2002)
   PUBMED   12421765
REFERENCE   6  (residues 1 to 1100)
  AUTHORS   Xu YC, Wu RF, Gu Y, Yang YS, Yang MC, Nwariaku FE and Terada LS.
  TITLE     Involvement of TRAF4 in oxidative activation of c-Jun N-terminal
            kinase
  JOURNAL   J Biol Chem 277 (31), 28051-28057 (2002)
   PUBMED   12023963
REFERENCE   7  (residues 1 to 1100)
  AUTHORS   Kimura A, Baumann CA, Chiang SH and Saltiel AR.
  TITLE     The sorbin homology domain: a motif for the targeting of proteins
            to lipid rafts
  JOURNAL   Proc Natl Acad Sci U S A 98 (16), 9098-9103 (2001)
   PUBMED   11481476
REFERENCE   8  (residues 1 to 1100)
  AUTHORS   Zucconi A, Dente L, Santonico E, Castagnoli L and Cesareni G.
  TITLE     Selection of ligands by panning of domain libraries displayed on
            phage lambda reveals new potential partners of synaptojanin 1
  JOURNAL   J Mol Biol 307 (5), 1329-1339 (2001)
   PUBMED   11292345
REFERENCE   9  (residues 1 to 1100)
  AUTHORS   Kawabe H, Hata Y, Takeuchi M, Ide N, Mizoguchi A and Takai Y.
  TITLE     nArgBP2, a novel neural member of ponsin/ArgBP2/vinexin family that
            interacts with synapse-associated protein 90/postsynaptic
            density-95-associated protein (SAPAP)
  JOURNAL   J Biol Chem 274 (43), 30914-30918 (1999)
   PUBMED   10521485
REFERENCE   10 (residues 1 to 1100)
  AUTHORS   Wang B, Golemis EA and Kruh GD.
  TITLE     ArgBP2, a multiple Src homology 3 domain-containing,
            Arg/Abl-interacting protein, is phosphorylated in v-Abl-transformed
            cells and localized in stress fibers and cardiocyte Z-disks
  JOURNAL   J Biol Chem 272 (28), 17542-17550 (1997)
   PUBMED   9211900
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104805.3, AC108472.5 and
            AC093797.3.
            
            Summary: Arg and c-Abl represent the mammalian members of the
            Abelson family of non-receptor protein-tyrosine kinases. They
            interact with the Arg/Abl binding proteins via the SH3 domains
            present in the carboxy end of the latter group of proteins. This
            gene encodes the sorbin and SH3 domain containing 2 protein. It has
            three C-terminal SH3 domains and an N-terminal sorbin homology
            (SoHo) domain that interacts with lipid raft proteins. The
            subcellular localization of this protein in epithelial and cardiac
            muscle cells suggests that it functions as an adapter protein to
            assemble signaling complexes in stress fibers, and that it is a
            potential link between Abl family kinases and the actin
            cytoskeleton. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1660809.162499.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1100
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1"
     Protein         1..1100
                     /product="sorbin and SH3 domain-containing protein 2
                     isoform 2"
                     /note="Arg binding protein 2; Arg/Abl-interacting protein
                     2; arg-binding protein 2"
                     /calculated_mol_wt=123977
     Site            13
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            14
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            27
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            28
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Region          30..57
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94875.3)"
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UTJ2; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            43
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UTJ2; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Region          70..114
                     /region_name="Sorb"
                     /note="Sorbin homologous domain; pfam02208"
                     /db_xref="CDD:426659"
     Region          134..311
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94875.3)"
     Site            153
                     /site_type="amidation"
                     /note="Alanine amide.
                     /evidence=ECO:0000269|PubMed:11786189; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            154
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            157
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O94875.3)"
     Site            234
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            236
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            239
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            245
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UTJ2; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            248
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UTJ2; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            258
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            259
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            260
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O94875.3)"
     Site            277
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            280
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            282
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            287
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            292
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            295
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            297
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UTJ2; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            298
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            299
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            301
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            302
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O94875.3)"
     Site            304
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            306
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O94875.3)"
     Site            311
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            316
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            320
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            322
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            326
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            341
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            344
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            346
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O94875.3)"
     Site            366
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            381
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            383
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UTJ2; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            413
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            415
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            437
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            439
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O94875.3)"
     Site            459
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            474
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            494
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35413; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            497
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UTJ2; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            550
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UTJ2; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            750
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UTJ2; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Region          807..866
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94875.3)"
     Site            843
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Region          866..920
                     /region_name="SH3_Sorbs2_1"
                     /note="First Src Homology 3 domain of Sorbin and SH3
                     domain containing 2 (Sorbs2), also called Arg-binding
                     protein 2 (ArgBP2); cd11920"
                     /db_xref="CDD:212853"
     Site            order(872,874,877,881,899..900,913,915..916)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212853"
     Region          941..997
                     /region_name="SH3_Sorbs2_2"
                     /note="Second Src Homology 3 domain of Sorbin and SH3
                     domain containing 2 (Sorbs2), also called Arg-binding
                     protein 2 (ArgBP2); cd11923"
                     /db_xref="CDD:212856"
     Site            order(947,949,952,956,974..975,990,992..993)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212856"
     Site            1017
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UTJ2; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Site            1023
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94875.3)"
     Region          1040..1100
                     /region_name="SH3_Sorbs2_3"
                     /note="Third (or C-terminal) Src Homology 3 domain of
                     Sorbin and SH3 domain containing 2 (Sorbs2), also called
                     Arg-binding protein 2 (ArgBP2); cd11917"
                     /db_xref="CDD:212850"
     Site            order(1050,1052,1055,1059,1077..1078,1093,1095..1096)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212850"
     CDS             1..1100
                     /gene="SORBS2"
                     /gene_synonym="ARGBP2; PRO0618"
                     /coded_by="NM_001394270.1:796..4098"
                     /note="isoform 2 is encoded by transcript variant 34"
                     /db_xref="CCDS:CCDS3845.1"
                     /db_xref="GeneID:8470"
                     /db_xref="HGNC:HGNC:24098"
                     /db_xref="MIM:616349"
ORIGIN      
        1 msyyqrpfsp sayslpasln ssivmqhgts ldstdtypqh aqsldgttss siplyrssee
       61 ekrvtvikap hypgigpvde sgiptairtt vdrpkdwykt mfkqihmvhk pdddtdmynt
      121 pytynaglyn ppysaqshpa aktqtyrpls kshsdnspna fkdasspvpp phvpppvppl
      181 rprdrsstek hdwdppdrkv dtrkfrsepr sifeyepgks silqherpas lyqssidrsl
      241 erpmssasma sdfrkrrkse pavgpprglg dqsasrtspg rvdlpgsstt ltksftsssp
      301 sspsrakggd dskicpslcs ysglngnpss eldycstyrq hldvprdspr aisfkngwqm
      361 arqnaeiwss teetvspkik srscddllnd dcdsfpdpkv ksesmgsllc eedskescpm
      421 awgspyvpev rsngrsrirh rsarnapgfl kmykkmhrin rkdlmnsevi csvksrilqy
      481 eseqqhkdll rawsqcstee vprdmvptri sefekliqks ksmpnlgddm lspvtleppq
      541 nglcpkrrfs ieylleeenq sgppargrrg cqsnalvpih ievtsdeqpr ahvefsdsdq
      601 dgvvsdhsdy ihlegssfcs esdfdhfsft ssesfygssh hhhhhhhhhh rhlissckgr
      661 cpasytrftt mlkherarhe nteeprrqem dpglsklafl vspvpfrrkk nsapkkqtek
      721 akckasvfea ldsalkdicd qikaekkrgs lpdnsilhrl isellpdvpe rnsslralrr
      781 splhqplhpl ppdgaihcpp yqndcgrmpr sasfqdvdta nsschhqdrg galqdrespr
      841 sysstltdmg rsaprerrgt pekeklpaka vydfkaqtsk elsfkkgdtv yilrkidqnw
      901 yegehhgrvg ifpisyvekl tppekaqpar ppppaqpgei geaiakynfn adtnvelslr
      961 kgdrvillkr vdqnwyegki pgtnrqgifp vsyvevvkkn tkgaedypdp piphsyssdr
     1021 ihslssnkpq rpvftheniq gggepfqaly nytprnedel elresdvidv mekcddgwfv
     1081 gtsrrtkffg tfpgnyvkrl
//
LOCUS       NP_689554                273 aa            linear   PRI 26-FEB-2023
DEFINITION  progestin and adipoQ receptor family member 4 isoform 1 [Homo
            sapiens].
ACCESSION   NP_689554
VERSION     NP_689554.2
DBSOURCE    REFSEQ: accession NM_152341.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 273)
  AUTHORS   Shi X, Zhao P and Zhao G.
  TITLE     VEZF1, destabilized by STUB1, affects cellular growth and
            metastasis of hepatocellular carcinoma by transcriptionally
            regulating PAQR4
  JOURNAL   Cancer Gene Ther 30 (2), 256-266 (2023)
   PUBMED   36241701
  REMARK    GeneRIF: VEZF1, destabilized by STUB1, affects cellular growth and
            metastasis of hepatocellular carcinoma by transcriptionally
            regulating PAQR4.
REFERENCE   2  (residues 1 to 273)
  AUTHORS   Qu C, Ma T, Yan X, Li X and Li Y.
  TITLE     Overexpressed PAQR4 predicts poor overall survival and construction
            of a prognostic nomogram based on PAQR family for hepatocellular
            carcinoma
  JOURNAL   Math Biosci Eng 19 (3), 3069-3090 (2022)
   PUBMED   35240821
  REMARK    GeneRIF: Overexpressed PAQR4 predicts poor overall survival and
            construction of a prognostic nomogram based on PAQR family for
            hepatocellular carcinoma.
REFERENCE   3  (residues 1 to 273)
  AUTHORS   Zhao G, Shi X, Sun Z, Zhao P and Lu Z.
  TITLE     PAQR4 promotes the development of hepatocellular carcinoma by
            activating PI3K/AKT pathway
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 53 (12), 1602-1613 (2021)
   PUBMED   34718369
  REMARK    GeneRIF: PAQR4 promotes the development of hepatocellular carcinoma
            by activating PI3K/AKT pathway.
REFERENCE   4  (residues 1 to 273)
  AUTHORS   Pedersen L, Panahandeh P, Siraji MI, Knappskog S, Lonning PE,
            Gordillo R, Scherer PE, Molven A, Teigen K and Halberg N.
  TITLE     Golgi-Localized PAQR4 Mediates Antiapoptotic Ceramidase Activity in
            Breast Cancer
  JOURNAL   Cancer Res 80 (11), 2163-2174 (2020)
   PUBMED   32291319
  REMARK    GeneRIF: Golgi-Localized PAQR4 Mediates Antiapoptotic Ceramidase
            Activity in Breast Cancer.
REFERENCE   5  (residues 1 to 273)
  AUTHORS   Xu P, Jiang L, Yang Y, Wu M, Liu B, Shi Y, Shen Q, Jiang X, He Y,
            Cheng D, Xiong Q, Yang Z, Duan L, Lin J, Zhao S, Shi P, Yang C and
            Chen Y.
  TITLE     PAQR4 promotes chemoresistance in non-small cell lung cancer
            through inhibiting Nrf2 protein degradation
  JOURNAL   Theranostics 10 (8), 3767-3778 (2020)
   PUBMED   32206121
  REMARK    GeneRIF: PAQR4 promotes chemoresistance in non-small cell lung
            cancer through inhibiting Nrf2 protein degradation.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 273)
  AUTHORS   Feng Y, Sun T, Yu Y, Gao Y, Wang X and Chen Z.
  TITLE     MicroRNA-370 inhibits the proliferation, invasion and EMT of
            gastric cancer cells by directly targeting PAQR4
  JOURNAL   J Pharmacol Sci 138 (2), 96-106 (2018)
   PUBMED   30322804
  REMARK    GeneRIF: PAQR4 (Progestin and AdipoQ Receptor 4) expression is
            closely associated with progression of many cancers and microRNA
            (miRNA) processing.
REFERENCE   7  (residues 1 to 273)
  AUTHORS   Zhang H, Han R, Ling ZQ, Zhang F, Hou Y, You X, Huang M, Zhao Z,
            Wang Z and Chen Y.
  TITLE     PAQR4 has a tumorigenic effect in human breast cancers in
            association with reduced CDK4 degradation
  JOURNAL   Carcinogenesis 39 (3), 439-446 (2018)
   PUBMED   29228296
  REMARK    GeneRIF: Data indicate that PAQR4 has a tumorigenic effect on human
            breast cancers, and such effect is associated with a modulatory
            activity of PAQR4 on protein degradation of CDK4
REFERENCE   8  (residues 1 to 273)
  AUTHORS   Wang L, Zhang R, You X, Zhang H, Wei S, Cheng T, Cao Q, Wang Z and
            Chen Y.
  TITLE     The steady-state level of CDK4 protein is regulated by antagonistic
            actions between PAQR4 and SKP2 and involved in tumorigenesis
  JOURNAL   J Mol Cell Biol 9 (5), 409-421 (2017)
   PUBMED   28992327
REFERENCE   9  (residues 1 to 273)
  AUTHORS   Tang YT, Hu T, Arterburn M, Boyle B, Bright JM, Emtage PC and Funk
            WD.
  TITLE     PAQR proteins: a novel membrane receptor family defined by an
            ancient 7-transmembrane pass motif
  JOURNAL   J Mol Evol 61 (3), 372-380 (2005)
   PUBMED   16044242
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004235.1, AL832527.1 and BC033703.1.
            On Jun 9, 2003 this sequence version replaced NP_689554.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC033703.1, AL832527.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318782.9/ ENSP00000321804.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..273
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..273
                     /product="progestin and adipoQ receptor family member 4
                     isoform 1"
                     /note="progestin and adipoQ receptor family member IV"
                     /calculated_mol_wt=28995
     Region          43..254
                     /region_name="HlyIII"
                     /note="Haemolysin-III related; cl03831"
                     /db_xref="CDD:446201"
     Site            52..72
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4S7.3)"
     Site            79..99
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4S7.3)"
     Site            115..135
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4S7.3)"
     Site            147..167
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4S7.3)"
     Site            185..205
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4S7.3)"
     Site            245..265
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4S7.3)"
     CDS             1..273
                     /gene="PAQR4"
                     /coded_by="NM_152341.5:328..1149"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS10485.1"
                     /db_xref="GeneID:124222"
                     /db_xref="HGNC:HGNC:26386"
                     /db_xref="MIM:614578"
ORIGIN      
        1 maflagprll dwasspphlq fnkfvltgyr passgsgclr slfylhnelg niythglall
       61 gflvlvpmtm pwgqlgkdgw lggthcvacl appagsvlyh lfmchqggsa vyarllaldm
      121 cgvclvntlg alpiihctla crpwlrpaal vgytvlsgva gwraltapst sarlrafgwq
      181 aaarllvfga rgvglgsgap gslpcylrmd alallgglvn varlperwgp grfdywgnsh
      241 qimhllsvgs ilqlhagvvp dllwaahhac prd
//
LOCUS       NP_001164433            1327 aa            linear   PRI 15-MAR-2023
DEFINITION  immunoglobulin superfamily member 1 isoform 4 [Homo sapiens].
ACCESSION   NP_001164433
VERSION     NP_001164433.1
DBSOURCE    REFSEQ: accession NM_001170962.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1327)
  AUTHORS   Zhang C, Chen L, Chen X, Xie R, Wang F, Chen T, Wang X, Sun H,
            Zhang D and Wu H.
  TITLE     [Clinical characteristics and genetic analysis of four patients
            with central hypothyroidism due to IGSF1 gene variants]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (3), 322-327 (2023)
   PUBMED   36854408
  REMARK    GeneRIF: [Clinical characteristics and genetic analysis of four
            patients with central hypothyroidism due to IGSF1 gene variants].
REFERENCE   2  (residues 1 to 1327)
  AUTHORS   Costas Eimil J and Sanchez-Sobrino P.
  TITLE     IGSF1 mutation as a cause of isolated central hypothyroidism
  JOURNAL   Endocrinol Diabetes Nutr (Engl Ed) 69 (10), 913-914 (2022)
   PUBMED   36464600
  REMARK    GeneRIF: IGSF1 mutation as a cause of isolated central
            hypothyroidism.
REFERENCE   3  (residues 1 to 1327)
  AUTHORS   Fourneaux R, Reynaud R, Mougel G, Castets S, Bretones P, Dauriat B,
            Edouard T, Raverot G, Barlier A, Brue T, Castinetti F and Saveanu
            A.
  TITLE     IGSF1 mutations are the most frequent genetic aetiology of
            thyrotropin deficiency
  JOURNAL   Eur J Endocrinol 187 (6), 787-795 (2022)
   PUBMED   36201163
  REMARK    GeneRIF: IGSF1 mutations are the most frequent genetic aetiology of
            thyrotropin deficiency.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1327)
  AUTHORS   Elizabeth MSM, Hokken-Koelega A, Visser JA, Joustra SD and de
            Graaff LCG.
  TITLE     Case Report: A Detailed Phenotypic Description of Patients and
            Relatives with Combined Central Hypothyroidism and Growth Hormone
            Deficiency Carrying IGSF1 Mutations
  JOURNAL   Genes (Basel) 13 (4), 623 (2022)
   PUBMED   35456429
  REMARK    GeneRIF: Case Report: A Detailed Phenotypic Description of Patients
            and Relatives with Combined Central Hypothyroidism and Growth
            Hormone Deficiency Carrying IGSF1 Mutations.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1327)
  AUTHORS   Fourneaux R, Castets S, Godefroy A, Grelet M, Abeillon-du Payrat J,
            Saveanu A, Castinetti F and Reynaud R.
  TITLE     Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant
            Identified in a French Family
  JOURNAL   Horm Res Paediatr 95 (3), 296-303 (2022)
   PUBMED   35350016
  REMARK    GeneRIF: Congenital Central Hypothyroidism Caused by a Novel IGSF1
            Variant Identified in a French Family.
REFERENCE   6  (residues 1 to 1327)
  AUTHORS   Tanaka S, Tatsumi K, Okubo K, Itoh K, Kawamoto S, Matsubara K and
            Amino N.
  TITLE     Expression profile of active genes in the human pituitary gland
  JOURNAL   J Mol Endocrinol 28 (1), 33-44 (2002)
   PUBMED   11854097
REFERENCE   7  (residues 1 to 1327)
  AUTHORS   Gui Y and Murphy LJ.
  TITLE     Insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) binds
            to fibronectin (FN): demonstration of IGF-I/IGFBP-3/fn ternary
            complexes in human plasma
  JOURNAL   J Clin Endocrinol Metab 86 (5), 2104-2110 (2001)
   PUBMED   11344214
REFERENCE   8  (residues 1 to 1327)
  AUTHORS   Chapman SC and Woodruff TK.
  TITLE     Modulation of activin signal transduction by inhibin B and
            inhibin-binding protein (INhBP)
  JOURNAL   Mol Endocrinol 15 (4), 668-679 (2001)
   PUBMED   11266516
REFERENCE   9  (residues 1 to 1327)
  AUTHORS   Frattini A, Faranda S, Redolfi E, Allavena P and Vezzoni P.
  TITLE     Identification and genomic organization of a gene coding for a new
            member of the cell adhesion molecule family mapping to Xq25
  JOURNAL   Gene 214 (1-2), 1-6 (1998)
   PUBMED   9729118
REFERENCE   10 (residues 1 to 1327)
  AUTHORS   Mazzarella R, Pengue G, Jones J, Jones C and Schlessinger D.
  TITLE     Cloning and expression of an immunoglobulin superfamily gene
            (IGSF1) in Xq25
  JOURNAL   Genomics 48 (2), 157-162 (1998)
   PUBMED   9521868
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590806.6.
            
            Summary: This gene encodes a member of the immunoglobulin-like
            domain-containing superfamily. Proteins in this superfamily contain
            varying numbers of immunoglobulin-like domains and are thought to
            participate in the regulation of interactions between cells.
            Multiple transcript variants encoding different isoforms have been
            found for this gene.[provided by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (4) lacks an alternate in-frame
            exon in the 5' coding region and uses an alternate in-frame splice
            site in a 3' exon compared to variant 3. The resulting protein
            (isoform 4) is shorter compared to isoform 3.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF034198.1, SRR14372079.2001561.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.1"
     Protein         1..1327
                     /product="immunoglobulin superfamily member 1 isoform 4"
                     /note="inhibin-binding protein; pituitary gland-specific
                     factor 2; immunoglobulin-like domain-containing protein 1"
                     /calculated_mol_wt=147842
     Region          28..114
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            44
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          45..49
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          58..62
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          80..84
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          94..99
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          109..112
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          122..212
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          139..143
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          151..155
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          173..177
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          187..192
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          205..208
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          218..307
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          235..239
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          247..251
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          270..274
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          284..289
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          300..303
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          316..405
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            329
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          330..334
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          342..346
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            365
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          366..370
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Site            372
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          380..385
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          398..401
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          411..495
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          428..432
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          440..444
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          458..462
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          472..477
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          490..493
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Site            510..530
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Site            551..571
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          582..670
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            598
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          599..603
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          612..616
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          634..638
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          648..653
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          663..666
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          676..763
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          690..694
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          702..706
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          724..728
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          738..743
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            738
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          756..759
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          769..859
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          786..790
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Site            789
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          798..802
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          823..827
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          837..842
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            837
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          852..855
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          865..951
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          882..886
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          894..898
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          916..920
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          930..935
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            930
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          948..951
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          961..1051
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            977
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          978..982
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          990..994
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1012..1016
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Site            1018
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          1026..1031
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1044..1047
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1057..1147
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            1073
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          1074..1078
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1086..1090
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1108..1112
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1122..1127
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            1138
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          1140..1143
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1153..1239
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          1170..1174
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1182..1186
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1200..1204
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1214..1219
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            1214
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          1232..1235
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1299..1327
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6C5.3)"
     CDS             1..1327
                     /gene="IGSF1"
                     /gene_synonym="CHTE; IGCD1; IGDC1; INHBP; p120; PGSF2"
                     /coded_by="NM_001170962.2:161..4144"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS55490.1"
                     /db_xref="GeneID:3547"
                     /db_xref="HGNC:HGNC:5948"
                     /db_xref="MIM:300137"
ORIGIN      
        1 mtldrpgega tmlktftvll fcilmdpqpe lwiesnypqa pwenitlwcr spsrisskfl
       61 llkdktqmtw irpshktfqv sfligaltes naglyrccyw ketgwskpsk vleleapgql
      121 pkpifwiqae tpalpgcnvn ilchgwlqdl vfmlfkegya epvdyqvptg tmaifsidnl
      181 tpedegvyic rthiqmlptl wsepsnplkl vvaglypkpt ltahpgpima pgeslnlrcq
      241 gpiygmtfal mrvedleksf yhkktiknea nfffqslkiq dtghylcfyy dasyrgslls
      301 dvlkiwvtdt fpktwllarp savvqmgqnv slrcrgpvdg vglalykkge dkplqfldat
      361 siddntsffl nnvtysdtgi yschylltwk tsirmpshnt velmvvdkpp kpslsawpst
      421 vfklgkaitl qcrvshpvle fsleweeret fqkfsvngdf iisnvdgkgt gtyscsyrve
      481 thpniwshrs eplklmgpag yltwnyvlne airlslimql valllvvlwi rwkcrrlrir
      541 eawllgtaqg vtmlfivtal lccglcngvl ieeteivmpt pkpelwaetn fplapwknlt
      601 lwcrspsgst kefvllkdgt gwiatrpase qvraafplga ltqshtgsyh chsweemavs
      661 epsealelvg tdilpkpvis asptirgqel qlrckgwlag mgfalykege qepvqqlgav
      721 greafftiqr medkdegnys crthtekrpf kwsepseple lvikemypkp ffktwaspvv
      781 tpgarvtfnc stphqhmsfi lykdgseias sdrswaspga saahfliisv gigdggnysc
      841 ryydfsiwse psdpvelvvt efypkptlla qpgpvvfpgk svilrcqgtf qgmrfallqe
      901 gahvplqfrs vsgnsadfll htvgaedsgn ysciyyettm snrgsylsmp lmiwvtdtfp
      961 kpwlfaepss vvpmgqnvtl wcrgpvhgvg yilhkegeat smqlwgstsn dgafpitnis
     1021 gtsmgryscc yhpdwtssik iqpsntlell vtgllpkpsl laqpgpmvap genmtlqcqg
     1081 elpdstfvll kegaqepleq qrpsgyradf wmpavrgeds giyscvyyld stpfaasnhs
     1141 dsleiwvtdk ppkpslsawp stmfklgkdi tlqcrgplpg vefvlehdge eapqqfsedg
     1201 dfvinnvegk gignyscsyr lqaypdiwse psdplelvga agpvaqectv gnivrssliv
     1261 vvvvalgvvl aiewkkwprl rtrgsetdgr dqtialeecn qegepgtpan spsstsqris
     1321 velpvpi
//
LOCUS       NP_056358                129 aa            linear   PRI 19-MAR-2023
DEFINITION  ras-related protein Rab-1A isoform 2 [Homo sapiens].
ACCESSION   NP_056358
VERSION     NP_056358.1
DBSOURCE    REFSEQ: accession NM_015543.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 129)
  AUTHORS   Chao TY, Cheng YY, Wang ZY, Fang TF, Chang YR, Fuh CS, Su MT, Su
            YW, Hsu PH, Su YC, Chang YC, Lee TY, Chou WH, Middeldorp JM,
            Saraste J and Chen MR.
  TITLE     Subcellular Distribution of BALF2 and the Role of Rab1 in the
            Formation of Epstein-Barr Virus Cytoplasmic Assembly Compartment
            and Virion Release
  JOURNAL   Microbiol Spectr 11 (1), e0436922 (2023)
   PUBMED   36602343
  REMARK    GeneRIF: Subcellular Distribution of BALF2 and the Role of Rab1 in
            the Formation of Epstein-Barr Virus Cytoplasmic Assembly
            Compartment and Virion Release.
REFERENCE   2  (residues 1 to 129)
  AUTHORS   Lv T, He D, Zhang X, Guo X, Li Z, Zhang A, Fan B and Wang Z.
  TITLE     SGOL2 promotes prostate cancer progression by inhibiting RAB1A
            ubiquitination
  JOURNAL   Aging (Albany NY) 14 (24), 10050-10066 (2022)
   PUBMED   36566018
  REMARK    GeneRIF: SGOL2 promotes prostate cancer progression by inhibiting
            RAB1A ubiquitination.
REFERENCE   3  (residues 1 to 129)
  AUTHORS   Zhang Y, Di Q, Chen J, Chang M, Ma Y and Yu J.
  TITLE     Circ_0061140 Contributes to the Malignant Progression in Ovarian
            Cancer Cells by Mediating the RAB1A Level Through Sponging
            miR-361-5p
  JOURNAL   Biochem Genet 60 (6), 1946-1962 (2022)
   PUBMED   35181843
  REMARK    GeneRIF: Circ_0061140 Contributes to the Malignant Progression in
            Ovarian Cancer Cells by Mediating the RAB1A Level Through Sponging
            miR-361-5p.
REFERENCE   4  (residues 1 to 129)
  AUTHORS   Wei L, He W, Zhao H and Zhao P.
  TITLE     Circ_0026123 promotes cisplatin resistance and progression of
            ovarian cancer by upregulating RAB1A through sequestering miR-543
  JOURNAL   Anticancer Drugs 33 (10), 1069-1080 (2022)
   PUBMED   36255068
  REMARK    GeneRIF: Circ_0026123 promotes cisplatin resistance and progression
            of ovarian cancer by upregulating RAB1A through sequestering
            miR-543.
REFERENCE   5  (residues 1 to 129)
  AUTHORS   Huang T, Chen B, Wang F, Cai W, Wang X, Huang B, Liu F, Jiang B and
            Zhang Y.
  TITLE     Rab1A promotes IL-4R/JAK1/STAT6-dependent metastasis and determines
            JAK1 inhibitor sensitivity in non-small cell lung cancer
  JOURNAL   Cancer Lett 523, 182-194 (2021)
   PUBMED   34627950
  REMARK    GeneRIF: Rab1A promotes IL-4R/JAK1/STAT6-dependent metastasis and
            determines JAK1 inhibitor sensitivity in non-small cell lung
            cancer.
REFERENCE   6  (residues 1 to 129)
  AUTHORS   Farnsworth CC, Seabra MC, Ericsson LH, Gelb MH and Glomset JA.
  TITLE     Rab geranylgeranyl transferase catalyzes the geranylgeranylation of
            adjacent cysteines in the small GTPases Rab1A, Rab3A, and Rab5A
  JOURNAL   Proc Natl Acad Sci U S A 91 (25), 11963-11967 (1994)
   PUBMED   7991565
REFERENCE   7  (residues 1 to 129)
  AUTHORS   Cremers FP, Armstrong SA, Seabra MC, Brown MS and Goldstein JL.
  TITLE     REP-2, a Rab escort protein encoded by the choroideremia-like gene
  JOURNAL   J Biol Chem 269 (3), 2111-2117 (1994)
   PUBMED   8294464
REFERENCE   8  (residues 1 to 129)
  AUTHORS   Bailly E, McCaffrey M, Touchot N, Zahraoui A, Goud B and Bornens M.
  TITLE     Phosphorylation of two small GTP-binding proteins of the Rab family
            by p34cdc2
  JOURNAL   Nature 350 (6320), 715-718 (1991)
   PUBMED   1902553
REFERENCE   9  (residues 1 to 129)
  AUTHORS   Zahraoui A, Touchot N, Chardin P and Tavitian A.
  TITLE     The human Rab genes encode a family of GTP-binding proteins related
            to yeast YPT1 and SEC4 products involved in secretion
  JOURNAL   J Biol Chem 264 (21), 12394-12401 (1989)
   PUBMED   2501306
REFERENCE   10 (residues 1 to 129)
  AUTHORS   Vielh E, Touchot N, Zahraoui A and Tavitian A.
  TITLE     Nucleotide sequence of a rat cDNA: rab1B, encoding a rab1-YPT
            related protein
  JOURNAL   Nucleic Acids Res 17 (4), 1770 (1989)
   PUBMED   2493636
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC352417.1, AL050268.1,
            AK055927.1 and AI768809.1.
            
            Summary: This gene encodes a member of the Ras superfamily of
            GTPases. Members of the gene family cycle between inactive
            GDP-bound and active GTP-bound forms. This small GTPase controls
            vesicle traffic from the endoplasmic reticulum to the Golgi
            apparatus. Multiple alternatively spliced transcript variants have
            been identified for this gene which encode different protein
            isoforms. [provided by RefSeq, Oct 2008].
            
            Transcript Variant: This variant (2) lacks two alternate segments
            in the 3' coding region, compared to variant 1. The resulting
            protein (isoform 2) has a shorter C-terminus when it is compared to
            isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.62026.1,
                                           SRR1803611.142607.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..129
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p14"
     Protein         1..129
                     /product="ras-related protein Rab-1A isoform 2"
                     /EC_number="3.6.5.2"
                     /note="Rab GTPase YPT1 homolog; RAB1, member RAS oncogene
                     family; ras-related protein Rab-1A; GTP binding protein
                     Rab1a; YPT1-related protein"
                     /calculated_mol_wt=13772
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine. /evidence=ECO:0000269|Ref.9,
                     ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (P62820.3)"
     Region          10..99
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            18..25
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206648"
     Region          40..48
                     /region_name="Effector region. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P62820.3)"
     Site            43
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206648"
     Site            47..49
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206648"
     Site            78..80
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206648"
     CDS             1..129
                     /gene="RAB1A"
                     /gene_synonym="RAB1; YPT1"
                     /coded_by="NM_015543.2:192..581"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS46305.1"
                     /db_xref="GeneID:5861"
                     /db_xref="HGNC:HGNC:9758"
                     /db_xref="MIM:179508"
ORIGIN      
        1 mssmnpeydy lfkllligds gvgksclllr faddtytesy istigvdfki rtieldgkti
       61 klqiefadsl gipfletsak natnveqsfm tmaaeikkrm gpgataggae ksnvkiqstp
      121 vkqsgggcc
//
LOCUS       XP_005244978            1113 aa            linear   PRI 20-MAR-2023
DEFINITION  roquin-1 isoform X5 [Homo sapiens].
ACCESSION   XP_005244978
VERSION     XP_005244978.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005244921.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1113
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1113
                     /product="roquin-1 isoform X5"
                     /calculated_mol_wt=123472
     Region          6..54
                     /region_name="mRING-HC-C3HC3D_Roquin1"
                     /note="Modified RING finger, HC subclass (C3HC3D-type),
                     found in Roquin-1; cd16781"
                     /db_xref="CDD:438436"
     Region          271..326
                     /region_name="ROQ_II"
                     /note="Roquin II domain; pfam18386"
                     /db_xref="CDD:436456"
     Region          414..440
                     /region_name="zf-CCCH"
                     /note="Zinc finger C-x8-C-x5-C-x3-H type (and similar);
                     pfam00642"
                     /db_xref="CDD:425793"
     CDS             1..1113
                     /gene="RC3H1"
                     /gene_synonym="FHL6; IMDSHY; RNF198; ROQUIN"
                     /coded_by="XM_005244921.4:413..3754"
                     /db_xref="GeneID:149041"
                     /db_xref="HGNC:HGNC:29434"
                     /db_xref="MIM:609424"
ORIGIN      
        1 mpvqapqwtd flscpictqt fdetirkpis lgcghtvckm clnklhrkac pfdqttintd
       61 iellpvnsal lqlvgaqvpe qqpitlcsgv edtkhyeeak kcveelalyl kplssargvg
      121 lnsttqsvls rpmqrklvtl vhcqlveeeg riramraars lgertvteli lqhqnpqqls
      181 snlwaavrar gcqflgpamq eealklvlla ledgsalsrk vlvlfvvqrl eprfpqaskt
      241 sighvvqlly rascfkvtkr dedsslmqlk eefrtyealr rehdsqivqi ameaglriap
      301 dqwssllygd qshkshmqsi idklqtpasf aqsvqeltia lqrtgdpanl nrlrphlell
      361 anidpspdap pptweqleng lvavrtvvhg lvdyiqnhsk kgadqqqppq hskyktymcr
      421 dmkqrggcpr gasctfahsq eelekfrkmn krlvprrpls aslgqlnevg lpsaailpde
      481 gavdlpsrkp palpngivst gntvtqlipr gtdpsydssl kpgkidhlss sapgsppdlg
      541 padlppmpvt kplqmvprgs qlypaqqtdv yyqdprgaap pfepapyqqg myytpppqcv
      601 srfvrpppsa pepappyldh yppylqervv nsqygtqpqq yppiypshyd grrvypapsy
      661 treeifresp ipieippaav psyvpesrer yqqiesyypv aphptqirps ylreppysrl
      721 ppppqphpsl delhrrrkei maqleerkvi spppfapspt lpptfhpeef ldedlkvagk
      781 ykgndysqys pwscdtigsy igtkdakpkd vvaagsvemm nveskgmrdq rldlqrraae
      841 tsdddlipfg drptvsrfga isrtsktiyq gagpmqamap qgaptksini sdyspygthg
      901 gwgaspysph qnipsqghfs ererismsev ashgkplpsa ereqlrlelq qlnhqisqqt
      961 qlrgleavsn rlvlqreant lagqsqpppp pppkwpgmis seqlslelhq vereigkrtr
     1021 elsmenqcsl dmksklntsk qaengqpepq nkvpaedltl tfssdvpngs altqenisll
     1081 snktsslnls edpegggdnn dsqrsgvtps sap
//
LOCUS       XP_047284290             831 aa            linear   PRI 20-MAR-2023
DEFINITION  prickle-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047284290
VERSION     XP_047284290.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428334.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..831
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..831
                     /product="prickle-like protein 1 isoform X1"
                     /calculated_mol_wt=94170
     Region          22..118
                     /region_name="PET_Prickle"
                     /note="The PET domain of Prickle; cd09827"
                     /db_xref="CDD:193602"
     Region          126..184
                     /region_name="LIM1_Prickle_1"
                     /note="The first LIM domain of Prickle 1; cd09483"
                     /db_xref="CDD:188867"
     Site            order(126,129,152,155,158,161,179,182)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188867"
     Region          189..244
                     /region_name="LIM2_Prickle"
                     /note="The second LIM domain of Prickle; cd09418"
                     /db_xref="CDD:188802"
     Site            order(191,194,212,215,218,221,239,242)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188802"
     Region          249..307
                     /region_name="LIM3_Prickle"
                     /note="The third LIM domain of Prickle; cd09420"
                     /db_xref="CDD:188804"
     Site            order(251,254,273,278,281,284,302,306)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188804"
     CDS             1..831
                     /gene="PRICKLE1"
                     /gene_synonym="EPM1B; RILP"
                     /coded_by="XM_047428334.1:209..2704"
                     /db_xref="GeneID:144165"
                     /db_xref="HGNC:HGNC:17019"
                     /db_xref="MIM:608500"
ORIGIN      
        1 mplemepkms klafgcqrss tsdddsgcal eeyawvppgl rpeqiqlyfa clpeekvpyv
       61 nspgekhrik qllyqlpphd nevrycqsls eeekkelqvf saqrkkealg rgtikllsra
      121 vmhavceqcg lkinggevav fasragpgvc whpscfvcft cnellvdliy fyqdgkihcg
      181 rhhaellkpr csacdeiifa decteaegrh whmkhfccle cetvlggqry imkdgrpfcc
      241 gcfeslyaey cetcgehigv dhaqmtydgq hwhateacfs caqckasllg cpflpkqgqi
      301 ycsktcslge dvhasdssds afqsarsrds rrsvrmgkss rsadqcrqsl llspalnykf
      361 pglsgnaddt lsrklddlsl srqgtsfase efwkgrveqe tpedpeewad hedymtqlll
      421 kfgdkslfqp qpnemdiras ehwisdnmvk sktelkqnnq slaskkyqsd mywaqsqdgl
      481 gdsaygshpg passrrlqel eldhgasgyn hdetqwyeds leclsdlkpe qsvrdsmdsl
      541 alsnitgasv dgenkprpsl yslqnfeeme tedcekmsnm gtlnssmlhr saeslkslss
      601 elcpekilpe ekpvhlpvlr rsksqsrpqq vkfsddvidn gnydieirqp pmsertrrrv
      661 ynfeergsrs hhhrrrrsrk srsdnalnlv terkyspkdr lrlytpdnye kfiqnksare
      721 iqayiqnadl ygqyahatsd yglqnpgmnr flglygeddd swcsssssss dseeegyflg
      781 qpipqprpqr fayytddlss ppsalptpqf gqrttkskkk kghkgkncii s
//
LOCUS       XP_047286435             390 aa            linear   PRI 20-MAR-2023
DEFINITION  PCI domain-containing protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_047286435
VERSION     XP_047286435.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430479.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..390
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..390
                     /product="PCI domain-containing protein 2 isoform X3"
                     /calculated_mol_wt=44682
     Region          38..326
                     /region_name="PCI"
                     /note="PCI domain; cl02111"
                     /db_xref="CDD:413200"
     CDS             1..390
                     /gene="PCID2"
                     /gene_synonym="F10"
                     /coded_by="XM_047430479.1:137..1309"
                     /db_xref="GeneID:55795"
                     /db_xref="HGNC:HGNC:25653"
                     /db_xref="MIM:613713"
ORIGIN      
        1 maspeekcqq vleppydemf aahlrctyav gnhdfieayk cqtvivqsfl rafqahkeen
       61 walpvmyava ldlrvfanna dqqlvkkgks kvgdmlekaa ellmscfrvc asdtragied
      121 skkwgmlflv nqlfkiyfki nklhlckpli raidssnlkd dystaqrvty kyyvgrkamf
      181 dsdfkqaeey lsfafehchr ssqknkrmil iyllpvkmll ghmptvellk kyhlmqfaev
      241 travsegnll llhealakhe affircgifl ileklkiity rnlfkkvyll lkthqlslda
      301 flvalkfmqv edvdidevqc ilanliymvw trqrlhiasa seaggqqaep isspvhgvlk
      361 vhgaprtgeq lflstlvvlm rpvrycnkap
//
LOCUS       XP_011535642             615 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 20 isoform X7 [Homo sapiens].
ACCESSION   XP_011535642
VERSION     XP_011535642.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011537340.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..615
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..615
                     /product="WD repeat-containing protein 20 isoform X7"
                     /calculated_mol_wt=67887
     Region          192..>357
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          196..261
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          266..302
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          309..342
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..615
                     /gene="WDR20"
                     /gene_synonym="Bun107; DMR"
                     /coded_by="XM_011537340.4:28..1875"
                     /db_xref="GeneID:91833"
                     /db_xref="HGNC:HGNC:19667"
                     /db_xref="MIM:617741"
ORIGIN      
        1 mategggkem neiktqfttr eglykllphs eysrpnrvpf nsqgsnpvrv sfvnlndqsg
       61 ngdrlcfnvg relyfyiykg vrkvptrasp epasgaadls kpidkriykg tqptchdfnh
      121 ltataesvsl lvgfsagqvq lidpikkets klfneenscq hlwkvdwnee rqnegsktse
      181 ealvtvqrli dksrvtcvkw vpgseslflv ahssgnmyly nvehtcgtta phyqllkqge
      241 sfavhtcksk strnpllkwt vgegalnefa fspdgkflac vsqdgflrvf nfdsvelhgt
      301 mksyfggllc vcwspdgkyi vtggeddlvt vwsfvdcrvi arghghkswv svvafdpytt
      361 sveegdpmef sgsdedfqdl lhfgrdrans tqsrlskrns tdsrpvsvty rfgsvgqdtq
      421 lclwdltedi lfphqplsra rthtnvmnat sppagsngns vttpgnsvpp plprsnslph
      481 savsnagsks svmdgaiasg vskfatlslh drkerhhekd hkrnhsmghi sskssdklnl
      541 vtktktdpak tlgtplcprm edvpllepli ckkiaherlt vlifledciv tacqegfict
      601 wgrpgkvllp chchs
//
LOCUS       XP_011519738            1096 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 72 isoform X2 [Homo sapiens].
ACCESSION   XP_011519738
VERSION     XP_011519738.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521436.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1096
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1096
                     /product="WD repeat-containing protein 72 isoform X2"
                     /calculated_mol_wt=122753
     Region          13..>191
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          20..60
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          66..107
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          112..151
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          160..206
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          213..259
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          267..315
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          323..352
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          404..>589
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          407..453
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          459..496
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          506..548
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          555..590
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..1096
                     /gene="WDR72"
                     /gene_synonym="AI2A3"
                     /coded_by="XM_011521436.3:44..3334"
                     /db_xref="GeneID:256764"
                     /db_xref="HGNC:HGNC:26790"
                     /db_xref="MIM:613214"
ORIGIN      
        1 mrtslqaval wgqkapphsi taimitddqr tivtgsqegq lclwnlshel kisakellfg
       61 hsasvtclar ardfskqpyi vsaaengemc vwnvtngqcm ekatlpyrht aicyyhcsfr
      121 mtgegwllcc geyqdvliid aktlavvhsf rssqfpdwin cmcivhsmri qedsllvvsv
      181 agelkvwdls ssinsiqekq dvyekeskfl eslncqtirf ctyterlllv vfskcwkvyd
      241 ycdfslllte vsrngqffag geviaahril iwtedghsyi yqllnsglsk siypadgrvl
      301 ketiyphllc stsvqenkeq srpfvmgymn erkepfykvl fsgevsgrit lwhipdvpvs
      361 kfdgspreip vtatwtlqdn fdkhdtmsqs iidyfsglkd gagtavvtss eyipsldkli
      421 cgcedgtiii tqalnaakar lledspphkv lkghhqsvts llyphglssk ldqswmlsgd
      481 ldscvilwdi fteeilhkff leagpvtsll mspekfklrg eqiiccvcgd hsvallhleg
      541 kscllharkh lfpvrmikwh pvenflivgc addsvyiwei etgtlerhet gerariilnc
      601 cddsqlvksv lpiasetlkh ksieqrsssp yqlgplpcpg lqvessckvt dakfcprpfn
      661 vlpvktkwsn vgfhillfdl enlvelllpt plsdvdssss fyggevlrra kstvekktlt
      721 lrksktacgp lsaealakpi teslaqgdnt ikfseendgi krqkkmkisk kmqpkpsrkv
      781 dasltidtak lflscllpwg vdkdldylci khlnilklqg pislgislne dnfslmlpgw
      841 dlcnsgmikd ysgvnlfsrk vldlsdkyta tlpnqvgipr glenncdslr esdtivylls
      901 rlflvnklvn mplelacrvg ssfrmesihn kmrgagndil nmssfysclr ngkneshvpe
      961 adlsllklis cwrdqsvqvt eaiqavllae vqqhmkslgk ipvnsqpvsm aengncemkq
     1021 mlpklewtee lelqcvrntl plqtpvspvk hdsnsnsanf qdvedmpdrc aleesespge
     1081 prhhswiakv cpckvs
//
LOCUS       XP_005255119            1104 aa            linear   PRI 20-MAR-2023
DEFINITION  ataxin-2-like protein isoform X1 [Homo sapiens].
ACCESSION   XP_005255119
VERSION     XP_005255119.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005255062.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1104
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..1104
                     /product="ataxin-2-like protein isoform X1"
                     /calculated_mol_wt=116203
     Region          123..196
                     /region_name="SM-ATX"
                     /note="Ataxin 2 SM domain; pfam14438"
                     /db_xref="CDD:433954"
     Region          209..750
                     /region_name="PBP1"
                     /note="PAB1-binding protein PBP1, interacts with
                     poly(A)-binding protein [RNA processing and modification];
                     COG5180"
                     /db_xref="CDD:227507"
     Region          264..326
                     /region_name="LsmAD"
                     /note="LsmAD domain; pfam06741"
                     /db_xref="CDD:429091"
     Region          <815..>946
                     /region_name="PRK10263"
                     /note="DNA translocase FtsK; Provisional"
                     /db_xref="CDD:236669"
     CDS             1..1104
                     /gene="ATXN2L"
                     /gene_synonym="A2D; A2LG; A2LP; A2RP"
                     /coded_by="XM_005255062.2:262..3576"
                     /db_xref="GeneID:11273"
                     /db_xref="HGNC:HGNC:31326"
                     /db_xref="MIM:607931"
ORIGIN      
        1 mlkpqplqqp sqpqqppptq qavarrppgg tsppngglpg platsaappg ppaaaspclg
       61 pvaaagsglr rgaegilapq ppppqqhqer pgaaaigsar gqstgkgppq spvfegvynn
      121 srmlhfltav vgstcdvkvk ngttyegifk tlsskfelav davhrkasep aggprrediv
      181 dtmvfkpsdv mlvhfrnvdf nyatkdkftd saiamnskvn gehkekvlqr weggdsnsdd
      241 ydlesdmsng wdpnemfkfn eenygvktty dsslssytvp lekdnseefr qrelraaqla
      301 reiesspqyr lriamenddg rteeekhsav qrqgsgresp slasregkyi plpqrvregp
      361 rggvrcsssr ggrpglsslp prgphhldns spgpgsearg inggpsrmsp kaqrplrgak
      421 tlsspsnrps getsvppppa appflpvgrm ypprspksaa papisascpe ppigsavpts
      481 sasipvtssv sdpgvgsisp aspkislapt dvkelstkep grtlepqela riagkvpglq
      541 neqkrfqlee lrkfgaqfkl qpssspensl dpfpprilke epkgkekevd glltsepmgs
      601 pvssktesvs dkedkpplap sggtegpeqp pppcpsqtgs ppvglikged kdegpvaeqv
      661 kkstlnpnak efnptkplls vnkststpts pgprthstps ipvltagqsg lyspqyisyi
      721 pqihmgpavq apqmypypvs nsvpgqqgky rgakgslppq rsdqhqpasa ppmmqaaaaa
      781 gpplvaatpy ssyipynpqq fpgqpammqp mahypsqpvf apmlqsnprm ltsgshpqai
      841 vssstpqyps aeqptpqaly atvhqsyphh atqlhahqpq pattptgsqp qsqhaapspv
      901 qqhqagqaph lgsgqpqqnl yhpgaltgtp pslppgpsaq spqssfpqpa avyaihhqql
      961 phgftnmahv tqahvqtgit aappphpgap hppqvmllhp pqshggppqg avpqsgvpal
     1021 sastpspypy ighpqgeqpg qapgfpggad drilcrvgrs hsrrrqglap gsvlcfppss
     1081 lscdpaaplp taspalsdpd cllt
//
LOCUS       XP_016882235             333 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and SCAN domain-containing protein 22 isoform X2 [Homo
            sapiens].
ACCESSION   XP_016882235
VERSION     XP_016882235.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017026746.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..333
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..333
                     /product="zinc finger and SCAN domain-containing protein
                     22 isoform X2"
                     /calculated_mol_wt=36591
     Region          45..130
                     /region_name="SCAN"
                     /note="SCAN domain; pfam02023"
                     /db_xref="CDD:426568"
     Site            order(52..53,55..57,62..64,66..67,70..71,74..75,77..80,
                     84..85,88..89,92..94,96..97,99..102,121,124..125,127..129)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:153421"
     CDS             1..333
                     /gene="ZSCAN22"
                     /gene_synonym="HKR2; ZNF50"
                     /coded_by="XM_017026746.2:168..1169"
                     /db_xref="GeneID:342945"
                     /db_xref="HGNC:HGNC:4929"
                     /db_xref="MIM:165260"
ORIGIN      
        1 maipkhslsp vpweedsflq vkveeeeeas lsqggesshd hiahseaarl rfrhfryeea
       61 sgphealahl ralccqwlqp eahskeqile llvleqflga lppeiqawvg aqspksgeea
      121 avlvedltqd giqepspqrq aasrvtwesq shqmslrpsw evfpldppls rhvnlraaqr
      181 gldyqgrsgq slspnrstsr klqgltrmsp qtsvavnlvp rgtvlvrgqt sppkrsllqk
      241 tnliwwmlmg qslhtptqgr gppsvasvgr csrvlrrsrh trrpilgrph mpaasvgkps
      301 agaltspstr lstqgrspms vrnvgrpsae spt
//
LOCUS       XP_006712154             396 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase VRK2 isoform X3 [Homo sapiens].
ACCESSION   XP_006712154
VERSION     XP_006712154.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006712091.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..396
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..396
                     /product="serine/threonine-protein kinase VRK2 isoform X3"
                     /calculated_mol_wt=44903
     Region          16..314
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(35..38,41,43,59,61,101,121..124,166,170..171,173,
                     185..186)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     CDS             1..396
                     /gene="VRK2"
                     /coded_by="XM_006712091.5:69..1259"
                     /db_xref="GeneID:7444"
                     /db_xref="HGNC:HGNC:12719"
                     /db_xref="MIM:602169"
ORIGIN      
        1 mppkrnekyk lpipfpegkv lddmegnqwv lgkkigsggf gliylafptn kpekdarhvv
       61 kveyqengpl fselkfyqrv akkdcikkwi erkqldylgi plfygsglte fkgrsyrfmv
      121 merlgidlqk isgqngtfkk stvlqlgirm ldvleyihen eyvhgdikaa nlllgyknpd
      181 qvyladygls yrycpngnhk qyqenprkgh ngtieftsld ahkgvalsrr sdveilgycm
      241 lrwlcgklpw eqnlkdpvav qtaktnllde lpqsvlkwap sgsscceiaq flvcahslay
      301 dekpnyqalk kilnphgipl gpldfstkgq sinvhtpnsq kvdsqkaatk qvnkahnrli
      361 ekkvhsersa escatwkvqk eekliglmnn eaaqfr
//
LOCUS       XP_016863232             898 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-alanine-activating enzyme isoform X3 [Homo sapiens].
ACCESSION   XP_016863232
VERSION     XP_016863232.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017007743.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..898
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..898
                     /product="beta-alanine-activating enzyme isoform X3"
                     /calculated_mol_wt=100916
     Region          15..533
                     /region_name="A_NRPS_acs4"
                     /note="acyl-CoA synthetase family member 4; cd17654"
                     /db_xref="CDD:341309"
     Site            order(195,198..203,205..206)
                     /site_type="other"
                     /note="acyl-activating enzyme (AAE) consensus motif"
                     /db_xref="CDD:341309"
     Site            order(198..199,319..320,342..347,375,428,439,442,527)
                     /site_type="other"
                     /note="AMP binding site [chemical binding]"
                     /db_xref="CDD:341309"
     Region          557..>608
                     /region_name="PP-binding"
                     /note="Phosphopantetheine attachment site; pfam00550"
                     /db_xref="CDD:425746"
     CDS             1..898
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /coded_by="XM_017007743.3:173..2869"
                     /db_xref="GeneID:132949"
                     /db_xref="HGNC:HGNC:23993"
                     /db_xref="MIM:614365"
ORIGIN      
        1 mtlqelvhka ascymdrvav cfdecnnqlp vyytyktvvn aaselsnfll lhcdfqgire
       61 iglycqpgid lpswilgilq vpaayvpiep dsppslsthf mkkcnlkyil vekkqinkfk
      121 sfhetllnyd tftvehndlv lfrlhwknte vnlmlndgke kyekekiksi ssehvneeka
      181 eehmdlrlkh clayvlhtsg ttgipkivrv phkcivpniq hfrvlfditq edvlflaspl
      241 tfdpsvveif lalssgasll ivptsvkllp sklasvlfsh hrvtvlqatp tllrrfgsql
      301 ikstvlsatt slrvlalgge afpsltvlrs wrgegnktqi fnvygitevs swatiyripe
      361 ktlnstlkce lpvqlgfpll gtvvevrdtn gftiqegsgq vflggrnrvc flddevtvpl
      421 gtmratgdfv tvkdgeiffl grkdsqikrh gkrlnielvq qvaeelqqve scavtwynqe
      481 klilfmvskd asvkeyifke lqkylpshav pdelvlidsl pftshgkidv selnkiylny
      541 inlksenkls gkedlweklq ylwkstlnlp edllrvpdes lflnsggdsl ksirllseie
      601 klvgtsvpgl leiilsssil eiynhilqtv vpdedvtfrk scatkrklsd inqeeasgts
      661 lhqkaimtft chneinafvv lsrgsqilsl nstrfltklg hcssacpsds vsqtniqnlk
      721 glnspvligk skdpscvakv seegkpaigt qkmelhvrwr sdtgkcvdas plvviptfdk
      781 ssttvyigsh shrmkavdfy sgkvkweqil gdriessacv skcgnfivve kevclevkmw
      841 rnclflsvfe pdstsfvfcy igrtftgcks clavlyqwtn lfipvyltir aknifwfp
//
LOCUS       XP_011512002             788 aa            linear   PRI 20-MAR-2023
DEFINITION  kelch-like protein 5 isoform X4 [Homo sapiens].
ACCESSION   XP_011512002
VERSION     XP_011512002.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011513700.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..788
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..788
                     /product="kelch-like protein 5 isoform X4"
                     /calculated_mol_wt=87629
     Region          254..772
                     /region_name="PHA03098"
                     /note="kelch-like protein; Provisional"
                     /db_xref="CDD:222983"
     Region          538..581
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          585..629
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          632..675
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          679..728
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          732..773
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     CDS             1..788
                     /gene="KLHL5"
                     /coded_by="XM_011513700.3:121..2487"
                     /db_xref="GeneID:51088"
                     /db_xref="HGNC:HGNC:6356"
                     /db_xref="MIM:608064"
ORIGIN      
        1 mrlpgqglga regpsiplss papapaspap pawpprpavt hgrlrsptrr aytslvlvgc
       61 tnlcavlfar clddhlvslr msgsrkefdv kqilkirwrw fghqasspns tvdsqqgefw
      121 nrgqtgangg rkfldpcslq lplasigyrr ssqldfqnsp swpmastsev pafeftaedc
      181 ggahwldrpe vddgtseeen esdssscrts nssqtlssch tmepctsdef fqalnhaeqt
      241 fkkmenylrh kqlcdvilva gdrripahrl vlssvsdyfa amftndvrea rqeeikmegv
      301 epnslwsliq yaytgrlelk edniecllst acllqlsqvv eacckflmkq lhpsnclgir
      361 sfadaqgctd lhkvahnytm ehfmevirnq efvllpasei akllasddmn ipneetilna
      421 lltwvrhdle qrrkdlskll ayirlpllap qfladmennv lfrddiecqk limeamkyhl
      481 lperrpmlqs prtkprkstv gtlfavggmd stkgatsiek ydlrtnmwtp vanmngrrlq
      541 fgvavlddkl yvvggrdglk tlntvecynp ktktwsvmpp msthrhglgv avlegpmyav
      601 gghdgwsyln tverwdpqar qwnfvatmst prstvgvavl sgklyavggr dgssclksve
      661 cfdphtnkwt lcaqmskrrg gvgvttwngl lyaigghdap asnltsrlsd cverydpktd
      721 mwtavasmsi srdavgvcll gdklyavggy dgqaylntve aydpqtnewt qktfptcawg
      781 iilpspri
//
LOCUS       XP_047273946             308 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124900193 [Homo sapiens].
ACCESSION   XP_047273946
VERSION     XP_047273946.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417990.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..308
                     /product="uncharacterized protein LOC124900193"
                     /calculated_mol_wt=32456
     CDS             1..308
                     /gene="LOC124900193"
                     /coded_by="XM_047417990.1:285..1211"
                     /db_xref="GeneID:124900193"
ORIGIN      
        1 madilvgclp lqtsqpasga hrrsqrrpls ftsvpfalgq rqrscgadpa lwgsknalfg
       61 ppifgpgfic dvstkgffff fpgfvlflqr ilggcmhlvv vgwgepnrgg vgseawviel
      121 sflsllpglp crecqprlah sprpqgeggq gkwgsgiakq thhwwspapa evgsplflrg
      181 vlfcsllkvg ggsfvsrcgg wertllhrlg lqeggcgdvc ngtiiipglr eqvkgtgras
      241 pgavavaagk varglpgrag avlpqvrega gwreggrard rreeggrggg rarahlswta
      301 alaelrlt
//
LOCUS       XP_047275832             577 aa            linear   PRI 20-MAR-2023
DEFINITION  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3
            isoform X11 [Homo sapiens].
ACCESSION   XP_047275832
VERSION     XP_047275832.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419876.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 27% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..577
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..577
                     /product="arf-GAP with GTPase, ANK repeat and PH
                     domain-containing protein 3 isoform X11"
                     /calculated_mol_wt=61858
     Region          308..465
                     /region_name="Centaurin_gamma"
                     /note="Centaurin gamma (CENTG) GTPase; cd04103"
                     /db_xref="CDD:133303"
     Site            314..321
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:133303"
     Site            order(316..322,360,363,414..415,417,447..448)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:133303"
     Site            335..343
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:133303"
     Site            338
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:133303"
     Site            360..363
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:133303"
     Site            362..375
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:133303"
     Site            414..417
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:133303"
     Site            447..449
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:133303"
     CDS             1..577
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /coded_by="XM_047419876.1:134..1867"
                     /db_xref="GeneID:116988"
                     /db_xref="HGNC:HGNC:16923"
                     /db_xref="MIM:616813"
ORIGIN      
        1 mergwpqgds cpgerpaacr rahsvcdsld lhgasagraa aalqaalcaa seqparprsv
       61 csggpepppt garglllgll rprlgrrgla psgppvspap spasspaptr rsrtrgeptp
      121 rprpasmtfl evnrlelaaa eapgaglgra gsagflrgaa lwssqrwpvl rggrgpegpr
      181 rglaalrksf sfrlrrgqev rrsesgllar pprartrsdg dagslgafps rrdllgsdap
      241 raapepgrpr taaglwrllt srfrrrepap aaplwgrraa aapellraps dsfvnsqewt
      301 lsrsvpelkv givgnlssgk salvhryltg tyvqeespeg grfkkeivvd gqsylllird
      361 eggppelqfa awvdavvfvf sledeisfqt vynyflrlcs frnasevpmv lvgtqdaisa
      421 anprviddsr arklstdlkr ctyyetcaty glnvervfqd vaqkvvalrk kqqlaigpck
      481 slpnspshsa vsaasipavh inqatngggs afsdysssvp stpsisqrel rietiaasst
      541 ptpirkqskr rsniftlmnr rpegclpkat qrvswps
//
LOCUS       XP_016870282             100 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform
            X2 [Homo sapiens].
ACCESSION   XP_016870282
VERSION     XP_016870282.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014793.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..100
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..100
                     /product="ubiquinone biosynthesis protein COQ4 homolog,
                     mitochondrial isoform X2"
                     /calculated_mol_wt=10554
     Region          46..>67
                     /region_name="Coq4"
                     /note="Coenzyme Q (ubiquinone) biosynthesis protein Coq4;
                     cl02093"
                     /db_xref="CDD:445662"
     CDS             1..100
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7"
                     /coded_by="XM_017014793.2:21..323"
                     /db_xref="GeneID:51117"
                     /db_xref="HGNC:HGNC:19693"
                     /db_xref="MIM:612898"
ORIGIN      
        1 matllrpvlr rlcglpglqr paaemplrar sdgagplysh hlptsplqkg llaagsaama
       61 lynpyrhgsv pgfrhppstw assracrkap svasisvswm
//
LOCUS       XP_047279888            2068 aa            linear   PRI 20-MAR-2023
DEFINITION  dedicator of cytokinesis protein 8 isoform X5 [Homo sapiens].
ACCESSION   XP_047279888
VERSION     XP_047279888.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423932.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2068
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..2068
                     /product="dedicator of cytokinesis protein 8 isoform X5"
                     /calculated_mol_wt=235056
     Region          23..133
                     /region_name="DUF3398"
                     /note="Domain of unknown function (DUF3398); pfam11878"
                     /db_xref="CDD:432155"
     Region          526..706
                     /region_name="C2_Dock-C"
                     /note="C2 domains found in Dedicator Of CytoKinesis (Dock)
                     class C proteins; cd08696"
                     /db_xref="CDD:176078"
     Region          1603..2024
                     /region_name="DHR2_DOCK8"
                     /note="Dock Homology Region 2, a GEF domain, of Class C
                     Dedicator of Cytokinesis 8; cd11701"
                     /db_xref="CDD:212574"
     Site            order(1720,1730,1732..1733,1735..1736,1739..1740,
                     1742..1743,1746..1747)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:212574"
     Site            order(1760,1762,1785,1788..1791,1793..1794,1813..1815,
                     1832..1834,1862..1865,1875..1876,1879,1881,1918..1919,
                     1922,1938..1939,1941..1942,1945..1947,1950..1952,
                     1955..1956,1959,1987,2009,2012)
                     /site_type="other"
                     /note="Rac/Cdc42 binding site [polypeptide binding]"
                     /db_xref="CDD:212574"
     Site            1950..1955
                     /site_type="other"
                     /note="nucleotide sensor"
                     /db_xref="CDD:212574"
     CDS             1..2068
                     /gene="DOCK8"
                     /gene_synonym="HEL-205; MRD2; ZIR8"
                     /coded_by="XM_047423932.1:462..6668"
                     /db_xref="GeneID:81704"
                     /db_xref="HGNC:HGNC:19191"
                     /db_xref="MIM:611432"
ORIGIN      
        1 mkpsqkrfvs plqlealtlp qfydpvepvd fegllmthln sldvqlaqel gdftdddldv
       61 vftpkecrtl qpslpeegve ldphvrdcvq tyirewlivn rknqgspeic gfkktgsrkd
      121 fhktlpkqtf esetlecsep aaqagprhln vlcdvsgkgp vtacdfdlrs lqpdkrlenl
      181 lqqvsaedfe kqneearrtn rqaelfalyp svdeedavei rpvpecpkeh lgnrilvkll
      241 tlkfeieiep lfasialydv kerkkisenf hcdlnsdqfk gflrahtpsv aassqarsav
      301 fsvtypssdi ylvvkiekvl qqgeigdcae pytvikesdg gkskekiekl klqaesfcqr
      361 lgkyrmpfaw apislssffn vstlerevtd vdsvvgrssv gerrtlaqsr rlseralsle
      421 engvgsnfkt stlsvssffk qegdrlsded lfkfladykr ssslqrrvks ipgllrleis
      481 tapeiinccl tpemlpvkpf penrtrphke ilefptrevy vphtvyrnll yvypqrlnfv
      541 nklasarnit ikiqfmcged asnampvifg kssgpeflqe vytavtyhnk spdfyeevki
      601 klpakltvnh hllftfyhis cqqkqgasve tllgyswlpi llnerlqtgs yclpvalekl
      661 ppnysmhsae kvplqnppik waeghkgvfn ievqavssvh tqdnhlekff tlchslesqv
      721 tfpirvldqk isemalehel klsiiclnss rleplvlflh lvldklfqls vqpmviagqt
      781 anfsqfafes vvaianslhn skdlskdqhg rncllasyvh yvfrlpevqr dvpksgapta
      841 lldprsyhty grtsaaavss kllqarvmss snpdlagths aadeevknim sskiadrncs
      901 rmsyycsgss dapsspaapr paskkhfhee lalqmvvstg mvretvfkya wfffellvks
      961 maqhvhnmdk rdsfrrtrfs drfmdditti vnvvtseiaa llvkpqkene qaekmnisla
     1021 fflydllslm drgfvfnlir hycsqlsakl snlptlismr leflrilcsh ehylnlnlff
     1081 mnadtaptsp cpsissqnss scssfqdqki asmfdltsey rqqhfltgll ftelaaalda
     1141 egegiskvqr kavsaihsll sshdldprcv kpevkvkiaa lylplvgiil dalpqlcdft
     1201 vadtrryrts gsdeeqegag ainqnvalai agnnfnlkts givlsslpyk qynmlnadtt
     1261 rnlmicflwi mknadqslir kwiadlpstq lnrildllfi cvlcfeykgk qssdkvstqv
     1321 lqksrdvkar leeallrgeg argemmrrra pgndrfpgln enlrwkkeqt hwrqanekld
     1381 ktkaeldqea lisgnlatea hliildmqen iiqassaldc kdsllggvlr vlvnslncdq
     1441 sttylthcfa tlraliakfg dllfeeeveq cfdlchqvlh hcsssmdvtr sqacatlyll
     1501 mrfsfgatsn farvkmqvtm slaslvgrap dfneehlrrs lrtilaysee dtamqmtpfp
     1561 tqveellcnl nsilydtvkm refqedpeml mdlmyriaks yqaspdlrlt wlqnmaekht
     1621 kkkcyteaam clvhaaalva eylsmledhs ylpvgsvsfq nissnvlees vvsedtlspd
     1681 edgvcagqyf tesglvglle qaaelfstgg lyetvnevyk lvipileahr efrkltlths
     1741 klqrafdsiv nkdhkrmfgt yfrvgffgsk fgdldeqefv ykepaitklp eishrleafy
     1801 gqcfgaefve vikdstpvdk tkldpnkayi qitfvepyfd eyemkdrvty feknfnlrrf
     1861 myttpftleg rprgelheqy rrntvlttmh afpyiktris viqkeefvlt pievaiedmk
     1921 kktlqlavai nqeppdakml qmvlqgsvga tvnqgpleva qvflaeipad pklyrhhnkl
     1981 rlcfkefimr cgeaveknkr litadqreyq qelkknynkl kenlrpmier kipelykpif
     2041 rvesqkrtlc clsayvyqlq nifnfdff
//
LOCUS       XP_047279916             345 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger CCHC domain-containing protein 7 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047279916
VERSION     XP_047279916.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423960.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..345
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..345
                     /product="zinc finger CCHC domain-containing protein 7
                     isoform X4"
                     /calculated_mol_wt=40881
     Region          <40..181
                     /region_name="AIR1"
                     /note="Arginine methyltransferase-interacting protein,
                     contains RING Zn-finger [Posttranslational modification,
                     protein turnover, chaperones / Intracellular trafficking
                     and secretion]; COG5082"
                     /db_xref="CDD:227414"
     CDS             1..345
                     /gene="ZCCHC7"
                     /gene_synonym="AIR1; HSPC086"
                     /coded_by="XM_047423960.1:775..1812"
                     /db_xref="GeneID:84186"
                     /db_xref="HGNC:HGNC:26209"
ORIGIN      
        1 mikmmisfst lwdvktlllk aqiannrtpg rwtqryysan kniicrncdk rghlskncpl
       61 prkvrrcflc srrghllysc paplceycpv pkmldhsclf rhswdkqcdr chmlghytda
      121 cteiwrqyhl ttkpgppkkp ktpsrpsala ycyhcaqkgh yghecperev ydpspvspfi
      181 cyyddkyeiq erekrlkqki kvlkkngvip epsklpyika anenphhdir kgraswksnr
      241 wpqenketqk emknknrnwe khrkadrhre vdedfprgpk tysspgsfkt qkpskpfhrs
      301 shyhtsredk spkegkrgkq kkkercwedd dndnlflikq rkkks
//
LOCUS       XP_054184707             647 aa            linear   PRI 20-MAR-2023
DEFINITION  elongation factor 1-delta isoform X6 [Homo sapiens].
ACCESSION   XP_054184707
VERSION     XP_054184707.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328732.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187571.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..647
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..647
                     /product="elongation factor 1-delta isoform X6"
                     /calculated_mol_wt=71277
     CDS             1..647
                     /gene="EEF1D"
                     /gene_synonym="EF-1D; EF1D; FP1047"
                     /coded_by="XM_054328732.1:4607..6550"
                     /db_xref="GeneID:1936"
                     /db_xref="HGNC:HGNC:3211"
                     /db_xref="MIM:130592"
ORIGIN      
        1 mrsgkasctl etvwedkhky eeaerrfyeh eatqaaasaq qlpaegpamn gpgqddpeda
       61 deaeapdggs rrdprksqds rkplqkkrkr spksglgpad lallglsaer vwldkslfdq
      121 aessyrqkla dvaaqaawpp alapwglcth gnqvachhvt wgiwvnkssf dqaerafvew
      181 sqalllapdg srrqgtpntg qqvavpdlah qpsppvngqp plgslqalvr evwlekpryd
      241 aaergfyeal fdghppgkvr lqeraglaeg arrgrrdrrg rnilgnkrag lrradgeaps
      301 alpycyflqk daeapwlskp aydsaecrhh aaealrvawc leaaslshrp gprsglsvss
      361 lrpnrkmatn flahekiwfd kfkyddaerr fyeqmngpva gasrqengas vilrdiarar
      421 eniqkslags sgpgassgts gdhgelvvri aslevenqsl rgvvqelqqa isklearlnv
      481 leksspghra tapqtqhvsp mrqveppakk patpaedded ddidlfgsdn eeedkeaaql
      541 reerlrqyae kkakkpalva kssilldvkp wddetdmaql eacvrsiqld glvwgasklv
      601 pvgygirklq iqcvveddkv gtdlleeeit kfeehvqsvd iaafnki
//
LOCUS       XP_047298821             498 aa            linear   PRI 20-MAR-2023
DEFINITION  putative pyridoxal-dependent decarboxylase domain-containing
            protein 2 isoform X17 [Homo sapiens].
ACCESSION   XP_047298821
VERSION     XP_047298821.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442865.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187607.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..498
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.12-12.3"
     Protein         1..498
                     /product="putative pyridoxal-dependent decarboxylase
                     domain-containing protein 2 isoform X17"
                     /calculated_mol_wt=54852
     Region          <172..394
                     /region_name="AAT_I"
                     /note="Aspartate aminotransferase (AAT) superfamily (fold
                     type I) of pyridoxal phosphate (PLP)-dependent enzymes.
                     PLP combines with an alpha-amino acid to form a compound
                     called a Schiff base or aldimine intermediate, which
                     depending on the reaction, is the...; cl18945"
                     /db_xref="CDD:450240"
     CDS             1..498
                     /gene="LOC124900586"
                     /coded_by="XM_047442865.1:225..1721"
                     /db_xref="GeneID:124900586"
ORIGIN      
        1 mdaslekiad ptlaemgknl keavkmleds qrrteeengk klisgdipgp lqgsgqdmvs
       61 ilqlvqnlmh gdedeepqsp riqnigeqgh mallghslga yistldkekl rklttrilsd
      121 ttlwlcrifr yengcayfhe eereglakic rlaihsryed fvvdgfnvly nkkpviylsa
      181 aarpglgqyl cnqlglpfpc lcrvpcntvf gsqhqmdvaf leklikddie rgrlplllva
      241 nagtaavght dkigrlkelc eqygiwlhve gvnlatlalg yvsssvlaaa kcdsmtmtpg
      301 pwlglpavpa vtlykhddpa ltlvagltsn kptdklralp lwlslqylgl dgfverikha
      361 cqlsqrlqes lkkvnyikil vedelsspvv vfrffqelpg sdpvfkavpv pnmtpsgvgr
      421 erhscdalnr wlgeqlkqlv pasgltvmdl eaegtclrfs plmtaagwsh cgtttrydcv
      481 rsrlttrlpg stgeqapp
//
LOCUS       XP_054187378            1094 aa            linear   PRI 20-MAR-2023
DEFINITION  large proline-rich protein BAG6 isoform X6 [Homo sapiens].
ACCESSION   XP_054187378
VERSION     XP_054187378.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331403.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167249.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1094
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1094
                     /product="large proline-rich protein BAG6 isoform X6"
                     /calculated_mol_wt=114953
     CDS             1..1094
                     /gene="BAG6"
                     /gene_synonym="BAG-6; BAT3; D6S52E; G3"
                     /coded_by="XM_054331403.1:252..3536"
                     /db_xref="GeneID:7917"
                     /db_xref="HGNC:HGNC:13919"
                     /db_xref="MIM:142590"
ORIGIN      
        1 mepndststa veepdslevl vktldsqtrt fivgaqmnvk efkehiaasv sipsekqrli
       61 yqgrvlqddk klqeynvggk vihlverapp qthlpsgass gtgsasathg ggsppgtrgp
      121 gasvhdrnan syvmvgtfnl pseprvrlvm aqhmirdiqt llsrmecrgg pqpqhsqppp
      181 qppavtpepv alssqtsepv eseapprepm eaeeveerap aqnpeltpgp apagptpape
      241 tnapnhpspa eyvevlqelq rlesrlqpfl qryyevlgaa attdynnnhe greedqrlin
      301 lvgeslrllg ntfvalsdlr cnlactpprh lhvvrpmshy ttpmvlqqaa ipiqinvgtt
      361 vtmtgngtrp pptpnaeapp pgpgqassva psstnvessa egapppgpap ppatshprvi
      421 rishqsvepv vmmhmniqds gtqpggvpsa ptgplgppgh gqtlgstliq lpslppefmh
      481 avahqithqa mvaavasaaa gqqvpgfpta ptrvviarpt ppqarpshpg gppvsgtlga
      541 glgtnaslaq mvsglvgqll mqpvlvaqgt pgmapppapa tasasagttn tattagpapg
      601 gpaqppptpq psmadlqfsq llgnllgpag pgaggsgvas ptitvampgv paflqgmtdf
      661 lqatqtappp pppppppppa peqqtmpppg spsggagspg glgleslspe fftsvvqgvl
      721 ssllgslgar agssesiaaf iqrlsgssni fepgadgalg ffgallsllc qnfsmvdvvm
      781 llhghfqplq rlqpqlrsff hqhylggqep tpsnirmath tlitgleeyv resfslvqvq
      841 pgvdiirtnl eflqeqfnsi aahvlhctds gfgarllelc nqglfeclal nlhclggqqm
      901 elaavingri rrmsrgvnps lvswlttmmg lrlqvvlehm pvgpdailry vrrvgdppqp
      961 lpeepmevqg aeraspepqr enaspapgtt aeeamsrgpp papeggsrde qdgasaetep
     1021 waaavppewv piiqqdiqsq rkvkpqppls daylsgmpak rrklrsdiqk rlqedpnysp
     1081 qrfpnaqraf addp
//
LOCUS       XP_054188877             228 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 74B isoform X13 [Homo
            sapiens].
ACCESSION   XP_054188877
VERSION     XP_054188877.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332902.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791762) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 8% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..228
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.1"
     Protein         1..228
                     /product="coiled-coil domain-containing protein 74B
                     isoform X13"
                     /calculated_mol_wt=25120
     CDS             1..228
                     /gene="CCDC74B"
                     /coded_by="XM_054332902.1:522..1208"
                     /db_xref="GeneID:91409"
                     /db_xref="HGNC:HGNC:25267"
ORIGIN      
        1 mnqtsqkkds lstssfqsvk sisnsansqg karpqpgsfn kqdskadvsq kadleeepll
       61 hnskldkvpg vqgqarkeka easnagaacm gnsqhqgrqm gaaahppmil plplrkpttl
      121 rqcevlirel wntnllqtqe lqhlkslleg sqrpqavpee asfprdqeat hfpkvstksl
      181 skkclllspp vaerailpal kqtpknnfae rqkrlqamqk rrlhrsvl
//
LOCUS       XP_054187746             749 aa            linear   PRI 20-MAR-2023
DEFINITION  amyloid-beta A4 precursor protein-binding family A member 2 isoform
            X1 [Homo sapiens].
ACCESSION   XP_054187746
VERSION     XP_054187746.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331771.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_011332701.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..749
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.1-13.3"
     Protein         1..749
                     /product="amyloid-beta A4 precursor protein-binding family
                     A member 2 isoform X1"
                     /calculated_mol_wt=82381
     CDS             1..749
                     /gene="APBA2"
                     /gene_synonym="D15S1518E; HsT16821; LIN-10; MGC:14091;
                     MINT2; X11-BETA; X11L"
                     /coded_by="XM_054331771.1:475..2724"
                     /db_xref="GeneID:321"
                     /db_xref="HGNC:HGNC:579"
                     /db_xref="MIM:602712"
ORIGIN      
        1 mahrklesvg sgmldhrvrp gpvphsqepe sedmelpleg yvpeglelaa lrpespapee
       61 qechnhspdg dsssdyvnnt seeedydegl peeeegityy irycpeddsy legmdcngee
      121 ylahsahpvd tdecqeavee wtdsagphph gheaegsqdy pdgqlpiped epsvleahdq
      181 eedghycask egyqdyypee angntgaspy rlrrgdgdle dqeedidqiv aeikmslsmt
      241 sitsaseasp ehgpepgped sveacppika scspsrhear pkslnllpea khpgdpqrgf
      301 kpktrtpeer lkwpheqvcn gleqprkqqr sdlngpvdnn nipetkkvas fpsfvavpgp
      361 cepedlidgi ifaanylgst qllsernpsk nirmmqaqea vsrvkrmqka akikkkanse
      421 gdaqtltevd lfistqrikv lnadtqetmm dhalrtisyi adignivvlm arrrmprsas
      481 qdciettpga qegkkqykmi chvfesedaq liaqsigqaf svayqeflra nginpedlsq
      541 keysdiintq emynddlihf snsenckelq lekhkgeilg vvvvesgwgs ilptvilanm
      601 mnggpaarsg klsigdqims ingtslvglp latcqgiikg lknqtqvkln ivscppvttv
      661 likrpdlkyq lgfsvqngii cslmrggiae rggvrvghri ieingqsvva tahekivqal
      721 snsvgeihmk tmpaamfrll tgqetplyi
//
LOCUS       XP_054189356             631 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 185 isoform X33 [Homo sapiens].
ACCESSION   XP_054189356
VERSION     XP_054189356.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333381.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791818) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..631
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..631
                     /product="zinc finger protein 185 isoform X33"
                     /calculated_mol_wt=67237
     CDS             1..631
                     /gene="ZNF185"
                     /gene_synonym="SCELL"
                     /coded_by="XM_054333381.1:218..2113"
                     /db_xref="GeneID:7739"
                     /db_xref="HGNC:HGNC:12976"
                     /db_xref="MIM:300381"
ORIGIN      
        1 msisalggrt kgkplppgee ernnvlkqmk vrttlkgdks witkqdeseg rtielpsgrs
       61 ratsfssage vpkprppstr aptgyiirgv ftkpidsssq pqqqfpkang tpksaaslvr
      121 tanagpprps ssgykmtted ykklapynir rsstsgdtee eeeeevvpfs sdeqkrrsea
      181 asgvlrrtap rehsyvlsaa kkstgsptqe tqapfiakrv evveedgpse ksqdppalar
      241 stpgsnrssp gnkdkeapcs relqrdlage eafrapntda arssaqlsdg nvgsgatgsr
      301 peglaavdig sergsssats vsavpadrks nstaaqedak adpkgalady egkdvatrvg
      361 eawqerpgap rggqgdpavp aqqpadpstp erqsspsgse qlvrrescgs svltdfegkd
      421 vatkvgeawq drpgaprggq gdpavptqqp adpstpeqqn spsgseqfvr resctsrvrs
      481 psscmvtvtv tatseqphiy ipapaselds ssttkgilfv keyvnasevs sgkpvsarys
      541 nvssiedsfa mekkppcgst pyserttggi ctycnreird cpkitlehlg iccheycfkc
      601 gicskpmgdl ldqifihrdt ihcgkcyekl f
//
LOCUS       XP_054189518             303 aa            linear   PRI 20-MAR-2023
DEFINITION  V-set and transmembrane domain-containing protein 1 isoform X4
            [Homo sapiens].
ACCESSION   XP_054189518
VERSION     XP_054189518.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333543.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571061.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..303
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..303
                     /product="V-set and transmembrane domain-containing
                     protein 1 isoform X4"
                     /calculated_mol_wt=33230
     CDS             1..303
                     /gene="VSTM1"
                     /gene_synonym="SIRL-1; SIRL1; UNQ3033"
                     /coded_by="XM_054333543.1:121..1032"
                     /db_xref="GeneID:284415"
                     /db_xref="HGNC:HGNC:29455"
                     /db_xref="MIM:616804"
ORIGIN      
        1 mtaeflsllc lglclgyede kknekppkps lhawpssvve aesnvtlkcq ahsqnvtfvl
       61 rkvndsgykq eqssaeneae fpftdlkpkd agryfcaykt tashewsess ehlqlvvtgs
      121 lpepllsvnv dpgmtpglrt lrcltpyngt eciviallkm gipeplqvrq vrknqtdfml
      181 wnvtsndsgn yscvyylsns shlasfpsnk leiwvtdkhd eleapsmktg ssseestkrt
      241 shsklpeqea aeadlsnmer vslstadpqg vtyaelstsa lseaasdttq eppgsheyaa
      301 lkv
//
LOCUS       XP_054195090             969 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 48 isoform X3 [Homo sapiens].
ACCESSION   XP_054195090
VERSION     XP_054195090.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339115.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..969
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..969
                     /product="ubiquitin carboxyl-terminal hydrolase 48 isoform
                     X3"
                     /calculated_mol_wt=111221
     CDS             1..969
                     /gene="USP48"
                     /gene_synonym="DFNA85; RAP1GA1; USP31"
                     /coded_by="XM_054339115.1:193..3102"
                     /db_xref="GeneID:84196"
                     /db_xref="HGNC:HGNC:18533"
                     /db_xref="MIM:617445"
ORIGIN      
        1 maprlqleka awrwaetvrp eevsqehiet ayriwlepci rgvcrrnckg npnclvgige
       61 hiwlgeiden sfhniddpnc errkknsfvg ltnlgatcyv ntflqvwfln lelrqalylc
      121 pstcsdymlg dgiqeekdye pqticehlqy lfallqnsnr ryidpsgfvk algldtgqqq
      181 daqefsklfm slledtlskq knpdvrnivq qqfcgeyayv tvcnqcgres kllskfyele
      241 lniqghkqlt dciseflkee klegdnryfc encqskqnat rkirllslpc tlnlqlmrfv
      301 fdrqtghkkk lntyigfsei ldmepyvehk ggsyvyelsa vlihrgvsay sghyiahvkd
      361 pqsgewykfn dediekmegk klqlgieedl aepsksqtrk pkcgkgthcs rnaymlvyrl
      421 qtqekpnttv qvpaflqelv drdnskfeew ciemaemrkq svdkgkakhe evkelyqrlp
      481 agavkalcke cvvercrilr lknqlnedyk tvnnllkaav kgsdgfwvgk sslrswrqla
      541 leqldeqdgd aeqsngkmng stlnkdeske erkeeeelnf nedilcphge lcisenerrl
      601 vskeawsklq qyfpkapefp sykeccsqck ileregeene alhkmianeq ktslpnlfqd
      661 knrpclsnwp edtdvlyivs qffveewrkf vrkptrcspv ssvgnsallc phgglmftfa
      721 smtkedskli aliwpsewqm iqklfvvdhv ikitrievgd vnpsetqyis epklcpecre
      781 gllcqqqrdl reytqatiyv hkvvdnkkvm kdsapelnvs sseteedkee akpdgekdpd
      841 fnqsnggtkr qkishqnyia yqkqvirrsm rhrkvrgeka llvsanqtlk elkiqimhaf
      901 svapfdqnls idgkilsddc atlgtlgvip esvillkade piadyaamdd vmqvcmpeeg
      961 fkgtgllgh
//
LOCUS       XP_054220732             362 aa            linear   PRI 20-MAR-2023
DEFINITION  pancreatic lipase-related protein 3 isoform X3 [Homo sapiens].
ACCESSION   XP_054220732
VERSION     XP_054220732.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364757.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..362
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..362
                     /product="pancreatic lipase-related protein 3 isoform X3"
                     /calculated_mol_wt=39984
     CDS             1..362
                     /gene="PNLIPRP3"
                     /coded_by="XM_054364757.1:327..1415"
                     /db_xref="GeneID:119548"
                     /db_xref="HGNC:HGNC:23492"
ORIGIN      
        1 mcnvllqled incinldwin gsreyihavn nlrvvgaeva yfidvlmkkf eyspskvhli
       61 ghslgahlag eagsripglg ritgldpagp ffhntpkevr ldpsdanfvd vihtnaaril
      121 felgvgtida cghldfypng gkhmpgcedl itpllkfnfn aykkemasff dcnharsyqf
      181 yaesilnpda fiaypcrsyt sfkagncffc skegcptmgh fadrfhfknm ktngshyfln
      241 tgslspfarw rhklsvklsg sevtqgtvfl rvggaigktg efaivsgkle pgmtytklid
      301 advnvgnits vqfiwkkhlf edsqnklgae mvintsgkyg ykstfcsqdi mgpnilqnlk
      361 pc
//
LOCUS       XP_054221359            1290 aa            linear   PRI 20-MAR-2023
DEFINITION  WASH complex subunit 2C isoform X3 [Homo sapiens].
ACCESSION   XP_054221359
VERSION     XP_054221359.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365384.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1290
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1290
                     /product="WASH complex subunit 2C isoform X3"
                     /calculated_mol_wt=141369
     CDS             1..1290
                     /gene="WASHC2C"
                     /gene_synonym="FAM21A; FAM21C; VPEF"
                     /coded_by="XM_054365384.1:53..3925"
                     /db_xref="GeneID:253725"
                     /db_xref="HGNC:HGNC:23414"
                     /db_xref="MIM:613631"
ORIGIN      
        1 mmnrttpdqe lvpasepvwe rpwsveeirr ssqswslaad agllqflqef sqqtisrthe
       61 ikkqvdglir etkatdcrlh nvfndflmls ntqfienrvy deeveepvlk aeaekteqek
      121 treqkevdli pkvqeavnyg lqvldsafeq ldikagnsds eeddangrve lilepkdlyi
      181 drplpyligs klfmeqedvg lgelsseegs vgsdrgsivd teeekeeees dedfahhsdn
      241 eqnqhttqts deeedddgcd lfadsekeee diedieentr pkrsrptsfa delaarikgd
      301 amgrvdeept tlpsgeakpr ktlkekkerr tpsddeednl fappkltded fspfgsgggl
      361 fsggkglfdd edeesdlfte apqdrqagas vkeesssskp gkkipagavs vflgdtdvfg
      421 aasvpslkep qkpeqptprk spygppptgl fddddgdddd dffsaphskp sktrkvqsta
      481 difgdeegdl fkekavaspe atvsqtdenk araekkvtls ysknlkpsse tktqkglfsd
      541 eedsedlfss qsasnlkgas llpgklptsv slfddedeed nlfggtaakk qtlslqaqre
      601 ekakaselsk kkasallfss deedqwnipa sqthlasdsr skgeprdsgt lqsqeakavk
      661 ktslfeedke ddlfaiakds qkktqrvsll feddvdsggs lfgspptsvp patkeglltr
      721 saqetvkhsd lfsssspwdk gtkprtktvl slfdeeedkm edqniiqapq kevgkgcdpd
      781 ahpkstgvfq deellfshkl qkdndpdvdl fagtkktkll epsvgslfgd dedddlfssa
      841 ksqplvqekk rvvkkdhsvn sfknqkhpes iqgskekgiw kpetpqdssg lapfktkeps
      901 trigkiqanl ainpaallpt aasqisevkp vlpelafpss ehrrshgles vpvlpgsgea
      961 gvsfdlpaqa dtlhsanksr vkmrgkrrpq traarrlaaq esseaedmsi prgpiaqwad
     1021 gaispnghrp qlraasgeds teealaaaaa pweggpvpgv dtspfakslg hsrgeadlfd
     1081 sgdifstgtg sqsvertkpk akiaenpanp pvggkakspm fpalgeassd ddlfqsakpk
     1141 pakktnpfpl lededdlftd qkvkknetks ssqqdviltt qdifeddifa teaikpsqkt
     1201 rekektlesn lfddnidifa dltvkpkeks kkkveaksif dddmddifss giqakttkpk
     1261 srsaqaapep rfehkvsnif ddplnafggq
//
LOCUS       XP_047301629             280 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124902531 [Homo sapiens].
ACCESSION   XP_047301629
VERSION     XP_047301629.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047445673.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 23% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..280
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..280
                     /product="uncharacterized protein LOC124902531"
                     /calculated_mol_wt=30204
     CDS             1..280
                     /gene="LOC124902531"
                     /coded_by="XM_047445673.1:1..843"
                     /db_xref="GeneID:124902531"
ORIGIN      
        1 mkkrrsnilm kvtartwhcg fwascselll qtpassqgsp vvpnnqvcqr khvaasgipg
       61 shhrknvpvs girgshhrkh vaasdiqgsy cmkhmpasni pgshhmkhvp assipgshhm
      121 khvaesgiwg shhgkhqaas girvpitgst clclaadgiq gshhgkhvaa sgipgshhrk
      181 nvpvsgirgs hhrkhvaasd iwgsycmkhv passipgshh rkhmaasgcv wylgfpswea
      241 haciwytgfi yfpalilyln pssisyeflf ssictllsts
//
LOCUS       XP_054223708             452 aa            linear   PRI 20-MAR-2023
DEFINITION  X-ray radiation resistance-associated protein 1 isoform X24 [Homo
            sapiens].
ACCESSION   XP_054223708
VERSION     XP_054223708.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367733.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..452
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..452
                     /product="X-ray radiation resistance-associated protein 1
                     isoform X24"
                     /calculated_mol_wt=51095
     CDS             1..452
                     /gene="XRRA1"
                     /coded_by="XM_054367733.1:794..2152"
                     /db_xref="GeneID:143570"
                     /db_xref="HGNC:HGNC:18868"
                     /db_xref="MIM:609788"
ORIGIN      
        1 mlddnrlsnp scfaslaglr rlkklslden riiripylqq vqlydesvdw nggrgsphke
       61 pqfmlqskpr mledsdeqld ytvlpmkkdv drtevvfssy pgfstsettk icslppifei
      121 lpvkslkarn qtlappfpel rylslaynki akedavlpva lfpslcefvf hnnplvahtr
      181 gvppllksfl qerlgihlir rkivkpkhhv lmsrkeswkv kseipkvpkq plvlhhprmr
      241 ttkspskdml epeaelaedl pttkstsves emptenlegh spscrtfvpl ppicsnstvh
      301 seetlshlsd ttvrlsperp sdedskstes ifltqvselp ssvihkddle lkekdqkkpp
      361 taprevkgtr rklptaflps kyhgyeellt akpdpafiep kgiqknaqal qqmlkhpllc
      421 hsskpkldtl qkpyvhkekr vlsctsgqng gw
//
LOCUS       XP_054224836            2196 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-VIIa isoform X10 [Homo sapiens].
ACCESSION   XP_054224836
VERSION     XP_054224836.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368861.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2196
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2196
                     /product="unconventional myosin-VIIa isoform X10"
                     /calculated_mol_wt=251930
     CDS             1..2196
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2;
                     USH1B"
                     /coded_by="XM_054368861.1:291..6881"
                     /db_xref="GeneID:4647"
                     /db_xref="HGNC:HGNC:7606"
                     /db_xref="MIM:276903"
ORIGIN      
        1 mvilqqgdhv wmdlrlgqef dvpigavvkl cdsgqvqvvd dednehwisp qnathikpmh
       61 ptsvhgvedm irlgdlneag ilrnlliryr dhliytytgs ilvavnpyql lsiyspehir
      121 qytnkkigem pphifaiadn cyfnmkrnsr dqcciisges gagktestkl ilqflaaisg
      181 qhswieqqvl eatpileafg naktirndns srfgkyidih fnkrgaiega kieqylleks
      241 rvcrqalder nyhvfycmle gmsedqkkkl glgqasdyny lamgncitce grvdsqeyan
      301 irsamkvlmf tdtenweisk llaailhlgn lqyeartfen ldacevlfsp slataaslle
      361 vnppdlmscl tsrtlitrge tvstplsreq aldvrdafvk giygrlfvwi vdkinaaiyk
      421 ppsqdvknsr rsiglldifg fenfavnsfe qlcinfaneh lqqffvrhvf kleqeeydle
      481 sidwlhieft dnqdaldmia nkpmniisli deeskfpkgt dttmlhklns qhklnanyip
      541 pknnhetqfg inhfagivyy etqgfleknr dtlhgdiiql vhssrnkfik qifqadvamg
      601 aetrkrsptl ssqfkrslel lmrtlgacqp ffvrcikpne fkkpmlfdrh lcvrqlrysg
      661 mmetirirra gypirysfve fveryrvllp gvkpaykqgd lrgtcqrmae avlgthddwq
      721 igktkiflkd hhdmllever dkaitdrvil lqkvirgfkd rsnflklkna atliqrhwrg
      781 hncrknyglm rlgflrlqal hrsrklhqqy rlarqriiqf qarcraylvr kafrhrlwav
      841 ltvqayargm iarrlhqrlr aeylwrleae kmrlaeeekl rkemsakkak eeaerkhqer
      901 laqlaredae relkekeaar rkkelleqme rarhepvnhs dmvdkmfgfl gtsgglpgqe
      961 gqapsgfedl ergrremvee dldaalplpd edeedlseyk fakfaatyfq gttthsytrr
     1021 plkqpllyhd degdqlaala vwitilrfmg dlpepkyhta msdgsekipv mtkiyetlgk
     1081 ktykrelqal qgegevtkrl hdgestvqgn smledrptsn leklhfiign gilrpalrde
     1141 iycqiskqlt hnpskssyar gwilvslcvg cfapsekfvk ylrnfihggp pgyapyceer
     1201 lrrtfvngtr tqppswlelq atkskkpiml pvtfmdgttk tlltdsatta kelcnaladk
     1261 islkdrfgfs lyialfdkqr haqqrgprpq aqgryrvagh slpgffspml lcfqvsslgs
     1321 gsdhvmdais qceqyakeqg aqernapwrl ffrkevftpw hspsednvat nliyqqvvrg
     1381 vkfgeyrcek eddlaelasq qyfvdygsem ilerllnlvp tyipdreitp lktlekwaql
     1441 aiaahkkgiy aqrrtdaqkv kedvvsyarf kwpllfsrfy eaykfsgpsl pkndvivavn
     1501 wtgvyfvdeq eqvllelsfp eimavsssrg akttapsftl atikgdeytf tssnaedird
     1561 lvvtfleglr krskyvvalq dnpnpagees gflsfakgdl iildhdtgeq vmnsgwangi
     1621 nertkqrgdf ptdcvyvmpt vtmppreiva lvtmtpdqrq dvvrllqlrt aepevrakpy
     1681 tleefsydyf rpppkhtlsr vmvskargkd rlwshtrepl kqallkkllg seelsqeacl
     1741 afiavlkymg dypskrtrsv neltdqifeg plkaeplkde ayvqilkqlt dnhiryseer
     1801 gwellwlctg lfppsnillp hvqrflqsrk hcplaidclq rlqkalrngs rkypphlvev
     1861 eaiqhkttqi fhkvyfpddt deafevesst kakdfcqnia trlllksseg fslfvkiadk
     1921 visvpendff fdfvrhltdw ikkarpikdg ivpsltyqvf fmkklwtttv pgkdpmadsi
     1981 fhyyqelpky lrgyhkctre evlqlgaliy rvkfeedksy fpsipkllre lvpqdlirqv
     2041 spddwkrsiv ayfnkhagks keeaklaflk lifkwptfgs affevkvhhg llraeeegnr
     2101 alikhrdssl glweramald tcpgegrraa psalsqlsvl agvspgdrgt rrssawqwrq
     2161 tckqagvmed glcsdtgeps prwqssggsa gcekas
//
LOCUS       XP_054225992             795 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 15 isoform X4 [Homo sapiens].
ACCESSION   XP_054225992
VERSION     XP_054225992.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370017.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..795
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..795
                     /product="coiled-coil domain-containing protein 15 isoform
                     X4"
                     /calculated_mol_wt=92444
     CDS             1..795
                     /gene="CCDC15"
                     /coded_by="XM_054370017.1:1545..3932"
                     /db_xref="GeneID:80071"
                     /db_xref="HGNC:HGNC:25798"
ORIGIN      
        1 mnagntpqdl tsaylieeel keqlrkkqea lkhfqkqvky rvnqqirlrk kqqlqksyer
       61 aqkegsiamq ssathltskr tsvfpnnlnv aigssrlpps lmpgdgiede enqnelfqqq
      121 aqalsetmkq arhrlasfkt vikkkgsvfp ddgrksfltr eevlsrkpas tgintgirge
      181 lpikvhqgll aavpyqnyme nqeldyeepd yeessslvtd ekgkedlfgr gqqdqqaihs
      241 edknkpfsrv qkvkfknplf vlmeeeeqkq lhfeglqdil peaqdyflea qgdlletqgd
      301 ltgiqsvkpd tqavemkvqv tepegqaiep egqpiktetq gimlkaqsie leegsivlkt
      361 qdflptnqal ltknqdvllk dhcvlpkdqs illkyqdqdf lprdqhvlhk dqdilpkyqd
      421 qnflpkdqnf lsrdqhvlpk dqdilpkyqd qnflpkdqnf lsrdqhvlpk dqnilpkyqd
      481 qdflpkdqdf lsrdqhvlpk dwnilpkcqd qdflprdqgv lpkdqnilpi cqdqdflprd
      541 qgylpkdqni lpicqdrdfl prdlhvlsnd qnilpkcqdq dflpkyqkas lkqptsilig
      601 rrgrealpld vhqdllcrhh qasirgkkvh fkepysdmtd ekgredfsla dyqclppksq
      661 dqddiknqqp asfmreervr eelpldyhqy vvpkiqdqds preqnkhikl pssfekweia
      721 rgntpgvpla ydryqsglst efqaplafqs dvdkeedkke rqkqylrhrr lfmdiereqv
      781 keqqrqkeqk kkiek
//
LOCUS       XP_054227312             213 aa            linear   PRI 20-MAR-2023
DEFINITION  C-type lectin domain family 4 member C isoform X1 [Homo sapiens].
ACCESSION   XP_054227312
VERSION     XP_054227312.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371337.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..213
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..213
                     /product="C-type lectin domain family 4 member C isoform
                     X1"
                     /calculated_mol_wt=24906
     CDS             1..213
                     /gene="CLEC4C"
                     /gene_synonym="BDCA-2; BDCA2; CD303; CLECSF11; CLECSF7;
                     DLEC; HECL; PRO34150"
                     /coded_by="XM_054371337.1:302..943"
                     /db_xref="GeneID:170482"
                     /db_xref="HGNC:HGNC:13258"
                     /db_xref="MIM:606677"
ORIGIN      
        1 mvpeeepqdr ekglwwfqlk vwsmavvsil llsvcftvss vvphnfmysk tvkrlsklre
       61 yqqyhpsltc vmegkdiedw sccptpwtsf qsscyfistg mqswtksqkn csvmgadlvv
      121 intreeqdfi iqnlkrnssy flglsdpggr rhwqwvdqtp ynenvtfwhs gepnnlderc
      181 aiinfrssee wgwndihchv pqksickmkk iyi
//
LOCUS       XP_054228014             120 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 233 isoform X3 [Homo sapiens].
ACCESSION   XP_054228014
VERSION     XP_054228014.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372039.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..120
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..120
                     /product="transmembrane protein 233 isoform X3"
                     /calculated_mol_wt=13376
     CDS             1..120
                     /gene="TMEM233"
                     /gene_synonym="DSPB2; IFITMD2"
                     /coded_by="XM_054372039.1:76..438"
                     /db_xref="GeneID:387890"
                     /db_xref="HGNC:HGNC:37219"
                     /db_xref="MIM:618296"
ORIGIN      
        1 msqyapspdf kraldsspea nteddkteed vpmpknylwl tivscfcpay pinivalvfs
       61 imslnsyndg dyegarrlgr nakwvaiasi iiglliigis cavhftrksw hqdlilirnn
//
LOCUS       XP_054228440            2246 aa            linear   PRI 20-MAR-2023
DEFINITION  stabilin-2 isoform X2 [Homo sapiens].
ACCESSION   XP_054228440
VERSION     XP_054228440.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372465.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2246
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2246
                     /product="stabilin-2 isoform X2"
                     /calculated_mol_wt=243620
     CDS             1..2246
                     /gene="STAB2"
                     /gene_synonym="FEEL2; FELE-2; FELL2; FEX2; HARE; SCARH1"
                     /coded_by="XM_054372465.1:205..6945"
                     /db_xref="GeneID:55576"
                     /db_xref="HGNC:HGNC:18629"
                     /db_xref="MIM:608561"
ORIGIN      
        1 mmlqhlvifc lglvvqnfcs paettgqarr cdrkslltir tecrscalnl gvkcpdgytm
       61 itsgsvgvrd crytfevrty slslpgcrhi crkdylqprc cpgrwgpdci ecpggagspc
      121 ngrgscaegm egngtcscqe gfggtacetc addnlfgpsc ssvcncvhgv cnsgldgdgt
      181 cecysaytgp kcdkpipeca allcpensrc spstedenkl eckclpnyrg dgkycdpinp
      241 clrkichpha hctylgpnrh sctcqegyrg dgqvclpvdp cqinfgncpt kstvckydgp
      301 gqshceckeh yqnfvpgvgc smtdicksdn pchrnanctt vapgrtecic qkgyvgdglt
      361 cygnimerlr elnteprgkw qgrltsfisl ldkayawpls klgpftvllp tdkglkgfnv
      421 nellvdnkaa qyfvklhiia gqmnieymnn tdmfytltgk sgeifnsdkd nqiklklhgg
      481 kkkvkiiqgd iiasngllhi ldramdklep tfesnneqti mtmlqprysk frslleetnl
      541 ghaldedgvg gpytifvpnn ealnnmkdgt ldyllspegs rkllelvryh ivpftqleva
      601 tlistphirs manqliqfnt tdngqiland vameeieita kngriytltg vlippsivpi
      661 lphrcdetkr emklgtcvsc slvywsrcpa nseptalfth rcvysgrfgs lksgcarycn
      721 atvkipkcck gfygpdcnqc pggfsnpcsg ngqcadslgg ngtciceegf qgsqcqfcsd
      781 pnkygprcnk kclcvhgtcn nridsdgacl tgtcrdgsag rlcdkqtsac gpyvqfchih
      841 atceysngta scickagyeg dgtlcsemdp ctgltpggcs rnaeciktgt gthtcvcqqg
      901 wtgngrdcse inncllpsag gchdnascly vgpgqnecec kkgfrgngid cepitscleq
      961 tgkchplasc qstssgvwsc vcqegyegdg flcygnaave lsflseaaif nrwinnaslq
     1021 ptlsatsnlt vlvpsqqate dmdqdeksfw lsqsnipali kyhmllgtyr vadlqtlsss
     1081 dmlatslqgn flhlakvdgn itiegasivd gdnaatngvi hiinkvlvpq rrltgslpnl
     1141 lmrleqmpdy sifrgyiiqy nlanaieaad aytvfapnnn aienyirekk vlsleedvlr
     1201 yhvvleekll kndlhngmhr etmlgfsyfl sfflhndqly vneapinytn vatdkgvihg
     1261 lgkvleiqkn rcdnndttii rgrcrtcsse ltcpfgtksl gnekrrciyt syfmgrrtlf
     1321 igcqpkcvrt vitreccagf fgpqcqpcpg naqnvcfgng icldgvngtg vcecgegfsg
     1381 tacetctegk ygihcdqacs cvhgrcnqgp lgdgscdcdv gwrgvhcdna ttedncngtc
     1441 htsancltns dgtasckcaa gfqgngtict ainaceisng gcsakadckr ttpgrrvctc
     1501 kagytgdgiv cleinpclen hggcdknaec tqtgpnqaac nclpaytgdg kvctlinvcl
     1561 tknggcsefa icnhtgqver tctckpnyig dgftcrgsiy qelpknpkts qyffqlqehf
     1621 vkdlvgpgpf tvfaplsaaf deearvkdwd kyglmpqvlr yhvvachqll lenlklisna
     1681 tslqgepivi svsqstvyin nkakiissdi istngivhii dkllspknll itpkdnsgri
     1741 lqnlttlatn ngyikfsnli qdsgllsvit dpihtpvtlf wptdqalhal paeqqdflfn
     1801 qdnkdklkey lkfhvirdak vlavdlptst awktlqgsel svkcgagrdi gdlflngqtc
     1861 rivqrellfd lgvaygidcl lidptlggrc dtfttfdasg ecgscvntps cprwskpkgv
     1921 kqkclynlpf krnlegcrer cslviqiprc ckgyfgrdcq acpggpdapc nnrgvcldqy
     1981 satgeckcnt gfngtacemc wpgrfgpdcl pcgcsdhgqc ddgitgsgqc lcetgwtgps
     2041 cdtqavlpav ctppcsahat ckenntcecn ldyegdgitc tvvdfckqdn ggcakvarcs
     2101 qkgtkvscsc qkgykgdghs cteidpcadg lnggchehat ckmtgpgkhk ceckshyvgd
     2161 glncepeqlp idrclqdngq chadakcvdl hfqdttvgvf hlrsplgqyk ltfdkareac
     2221 aneaatmaty nqlsyaqktw ysftke
//
LOCUS       XP_054230753             313 aa            linear   PRI 20-MAR-2023
DEFINITION  replication factor C subunit 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054230753
VERSION     XP_054230753.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374778.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..313
                     /product="replication factor C subunit 3 isoform X2"
                     /calculated_mol_wt=35508
     CDS             1..313
                     /gene="RFC3"
                     /gene_synonym="RFC38"
                     /coded_by="XM_054374778.1:31..972"
                     /db_xref="GeneID:5983"
                     /db_xref="HGNC:HGNC:9971"
                     /db_xref="MIM:600405"
ORIGIN      
        1 mslwvdkyrp cslgrldyhk eqaaqlrnlv qcgdfphllv ygpsgagkkt rimcilrely
       61 gvgveklrie hqtittpskk kieistiasn yhlevnpsda gnsdrvviqe mlktvaqsqq
      121 letnsqrdfk vvlltevdkl tkdaqhalrr tmekymstcr lilccnstsk vippirsrcl
      181 avrvpapsie dichvlstvc kkeglnlpsq lahrlaeksc rnlrkallmc eacrvqqypf
      241 tadqeipetd wevylretan aivsqqtpqr llevrgrlye llthcippei imklkdetgl
      301 smitqsfidp thh
//
LOCUS       XP_054236355            1205 aa            linear   PRI 20-MAR-2023
DEFINITION  multidrug resistance-associated protein 1 isoform X41 [Homo
            sapiens].
ACCESSION   XP_054236355
VERSION     XP_054236355.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380380.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1205
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1205
                     /product="multidrug resistance-associated protein 1
                     isoform X41"
                     /calculated_mol_wt=133808
     CDS             1..1205
                     /gene="ABCC1"
                     /gene_synonym="ABC29; ABCC; DFNA77; GS-X; MRP; MRP1"
                     /coded_by="XM_054380380.1:387..4004"
                     /db_xref="GeneID:4363"
                     /db_xref="HGNC:HGNC:51"
                     /db_xref="MIM:158343"
ORIGIN      
        1 msfffkaihd lmmfsgpqil kllikfvndt kapdwqgyfy tvllfvtacl qtlvlhqyfh
       61 icfvsgmrik tavigavyrk alvitnsark sstvgeivnl msvdaqrfmd latyinmiws
      121 aplqvilaly llwlnlgpsv lagvavmvlm vpvnavmamk tktyqvahmk skdnriklmn
      181 eilngikvlk lyawelafkd kvlairqeel kvlkksayls avgtftwvct pflvalctfa
      241 vyvtidenni ldaqtafvsl alfnilrfpl nilpmvissi vqasvslkrl riflsheele
      301 pdsierrpvk dgggtnsitv rnatftwars dpptlngitf sipegalvav vgqvgcgkss
      361 llsallaemd kveghvaikg svayvpqqaw iqndslreni lfgcqleepy yrsviqacal
      421 lpdleilpsg drteigekgv nlsggqkqrv slaravysna diylfddpls avdahvgkhi
      481 fenvigpkgm lknktrilvt hsmsylpqvd viivmsggki semgsyqell ardgafaefl
      541 rtyasteqeq daeengvtgv sgpgkeakqm engmlvtdsa gkqlqrqlss sssysgdisr
      601 hhnstaelqk aeakkeetwk lmeadkaqtg qvklsvywdy mkaiglfisf lsiflfmcnh
      661 vsalasnywl slwtddpivn gtqehtkvrl svygalgisq giavfgysma vsiggilasr
      721 clhvdllhsi lrspmsffer tpsgnlvnrf skeldtvdsm ipevikmfmg slfnvigaci
      781 villatpiaa iiipplgliy ffvqrfyvas srqlkrlesv srspvyshfn etllgvsvir
      841 afeeqerfih qsdlkvdenq kayypsivan rwlavrlecv gncivlfaal favisrhsls
      901 aglvglsvsy slqvttylnw lvrmssemet nivaverlke ysetekeapw qiqetappss
      961 wpqvgrvefr nyclryredl dfvlrhinvt inggekvgiv grtgagkssl tlglfrines
     1021 aegeiiidgi niakiglhdl rfkitiipqd pvlfsgslrm nldpfsqysd eevwtslela
     1081 hlkdfvsalp dkldhecaeg genlsvgqrq lvclarallr ktkilvldea taavdletdd
     1141 liqstirtqf edctvltiah rlntimdytr vivldkgeiq eygapsdllq qrglfysmak
     1201 daglv
//
LOCUS       XP_054236591             424 aa            linear   PRI 20-MAR-2023
DEFINITION  protein BANP isoform X9 [Homo sapiens].
ACCESSION   XP_054236591
VERSION     XP_054236591.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380616.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..424
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..424
                     /product="protein BANP isoform X9"
                     /calculated_mol_wt=45702
     CDS             1..424
                     /gene="BANP"
                     /gene_synonym="BEND1; SMAR1; SMARBP1"
                     /coded_by="XM_054380616.1:322..1596"
                     /db_xref="GeneID:54971"
                     /db_xref="HGNC:HGNC:13450"
                     /db_xref="MIM:611564"
ORIGIN      
        1 mvagsplgat qtcnkvrcvv pqttvilnnd rqnaivakme dplsnrapds lenvisnavp
       61 grrqntivvk vpgqedshhe dgesgseasd svsscgqags qsigsnvtli tlnseedypn
      121 gtwlgdennp emrvrcaiip sdmlhistnc rtaekmaltl ldylfhrevq avsnlsgqgk
      181 hgkkqldplt iygirchlfy kfgitesdwy rikqsidskc rtawrrkqrg qslavksfsr
      241 rtpnsssycp sepmmstppp aselpqpqpq pqalhyalan aqqvqihqig edgqvqvghl
      301 hiaqvpqgeq vqitqdsegn lqihhvgqdg qlleatripc llapsvfkas sgqvlqgaql
      361 iavassdpaa agvdgsplqg sdiqvqyvql apvsdhtaga qtaealqptl qpemqlehga
      421 iqiq
//
LOCUS       XP_054170388             687 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G-protein coupled receptor G1 isoform X4 [Homo sapiens].
ACCESSION   XP_054170388
VERSION     XP_054170388.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314413.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..687
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..687
                     /product="adhesion G-protein coupled receptor G1 isoform
                     X4"
                     /calculated_mol_wt=76941
     CDS             1..687
                     /gene="ADGRG1"
                     /gene_synonym="BFPP; BPPR; GPR56; TM7LN4; TM7XN1"
                     /coded_by="XM_054314413.1:133..2196"
                     /db_xref="GeneID:9289"
                     /db_xref="HGNC:HGNC:4512"
                     /db_xref="MIM:604110"
ORIGIN      
        1 mtpqsllqtt lfllsllflv qgahgrghre dfrfcsqrnq thrsslhykp tpdlrisien
       61 seealtvhap fpaahpasrs fpdprglyhf clywnrhagr lhllygkrdf llsdkassll
      121 cfqhqeesla qgppllatsv tswwspqnis lpsaasftfs fhspphtaah nasvdmcelk
      181 rdlqllsqfl khpqkasrrp saapasqqlq sleskltsvr fmgdmvsfee drinatvwkl
      241 qptaglqdlh ihsrqeeeqs eimeysvllp rtlfqrtkgr sgeaekrlll vdfssqalfq
      301 dknssqvlge kvlgivvqnt kvanltepvv ltfqhqlqpk nvtlqcvfwv edptlsspgh
      361 wssagcetvr retqtscfcn hltyfavlmv ssvevdavhk hylsllsyvg cvvsalaclv
      421 tiaaylcsrr kprdytikvh mnlllavfll dtsfllsepv altgseagcr asaiflhfsl
      481 ltclswmgle gynlyrlvve vfgtyvpgyl lklsamgwgf piflvtlval vdvdnygpii
      541 lavhrtpegv iypsmcwird slvsyitnlg lfslvflfnm amlatmvvqi lrlrphtqkw
      601 shvltllgls lvlglpwali ffsfasgtfq lvvlylfsii tsfqgflifi wywsmrlqar
      661 ggpsplksns dsarlpissg stsssri
//
LOCUS       XP_054174066            1970 aa            linear   PRI 20-MAR-2023
DEFINITION  probable helicase with zinc finger domain isoform X1 [Homo
            sapiens].
ACCESSION   XP_054174066
VERSION     XP_054174066.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318091.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1970
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1970
                     /product="probable helicase with zinc finger domain
                     isoform X1"
                     /calculated_mol_wt=221770
     CDS             1..1970
                     /gene="HELZ"
                     /gene_synonym="DHRC; DRHC; HUMORF5"
                     /coded_by="XM_054318091.1:181..6093"
                     /db_xref="GeneID:9931"
                     /db_xref="HGNC:HGNC:16878"
                     /db_xref="MIM:606699"
ORIGIN      
        1 medrraeksc eqaceslkrq dyemalkhct eallslgqys madftgpcpl eierikiesl
       61 lyriasflql knyvqadedc rhvlgeglak gedafravlc cmqlkgklqp vstilakslt
      121 geslngmvtk dltrlktlls etetatsnal sgyhvedlde gscngwhfrp pprgitssee
      181 ytlckrfleq gicrygaqct sahsqeelae wqkryasrli klkqqnenkq lsgsymetli
      241 ekwmnslspe kvlseciegv kvehnpdlsv tvstkkshqt wtfaltckpa rmlyrvally
      301 dahrphfsii aisagdsttq vsqevpencq ewiggkmaqn gldhyvykvg iafnteifgt
      361 frqtivfdfg lepvlmqrvm idaastedle ylmhakqqlv ttakrwdsss ktiidfepne
      421 ttdlekslli ryqiplsadq lftqsvldks ltksnyqsrl hdllyieeia qykeisntsg
      481 astsrillqd ttnvtrgfsc csklfnlkvq lqilasfmlt gvsggakyaq ngqlfgrfkl
      541 tetlsedtla grlvmtkvna vyllpvpkqk lvqtqgtkek vyeatieekt keyiflrlsr
      601 ecceelnlrp dcdtqvelqf qlnrlplcem hyaldrikdn gvlfpdismt ptipwspnrq
      661 wdeqldprln akqkeavlai ttplaiqlpp vliigpygtg ktftlaqavk hilqqqetsr
      721 ilicthsnsa adlyikdylh pyveagnpqa rplrvyfrnr wvktvhpvvh qyclissahs
      781 tfqmpqkedi lkhrvvvvtl ntsqylcqld lepgffthil ldeaaqamec etimplalat
      841 qntrivlagd hmqlspfvys efarernlhv slldrlyehy paefpcrill cenyrsheai
      901 inytselfye gklmasgkqp ahkdfypltf ftargedvqe knstafynna evfevverve
      961 elrrkwpvaw gklddgsigv vtpyadqvfr iraelrkkrl sdvnvervln vqgkqfrvlf
     1021 lstvrtrhtc khkqtpikkk eqlledsted ldygflsnyk llntaitraq slvavvgdpi
     1081 alcsigrcrk fwerfialch ensslhgitf eqikaqleal elkktyvlnp lapefipral
     1141 rlqhsgstnk qqqsppkgks lhhtqndhfq ndgivqpnps vlignpiray tpppplgphp
     1201 nlgkspspvq ridphtgtsi lyvpavyggn vvmsvplpvp wtgyqgrfav dpriithqaa
     1261 maynmnllqt hgrgspipyg lghhppvtig qpqnqhqekd qheqnrngks dtnnsgpein
     1321 kirtpekkpt epkqvdlesn pqnrspesrp svvypstkfp rkdnlnprhi nlplpaphaq
     1381 yaipnrhfhp lpqlprppfp ipqqhtllnq qqnnlpeqpn qippqpnqvv qqqsqlnqqp
     1441 qqpppqlspa yqagpnnaff nsavahrpqs ppaeavipeq qpppmlqegh splraiaqpg
     1501 pilpshlnsf idenpsglpi gealdrihgs valetlrqqq arfqqwsehh aflsqgsvpy
     1561 phhhhphlqh lpqpplglhq ppvradwklt ssaedevett ysrfqdlire lshrdqsetr
     1621 elaempppqs rllqyrqvqs rsppavpspp sstdhsshfs nfndnsrdie vasnpafpqr
     1681 lppqifnspf slpsehlapp plkylapdga wtfanlqqnh lmgpgfpygl pplphrppqn
     1741 pfvqiqnhqh aigqepfhpl ssrtvssssl psleeyeprg pgrplyqrri ssssvqpcse
     1801 evstpqdsla qckelqdhsn qssfnfsspe swvnttsstp yqnipcngss rtaqprelia
     1861 ppktvkpped qlksenlevs ssfnysvlqh lgqfpplmpn kqiaesanss spqssaggkp
     1921 amsyasalra ppkprpppeq akkssdplsl fqelslgsss gsngfysyfk
//
LOCUS       XP_054174472            1091 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 521 isoform X4 [Homo sapiens].
ACCESSION   XP_054174472
VERSION     XP_054174472.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318497.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1091
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1091
                     /product="zinc finger protein 521 isoform X4"
                     /calculated_mol_wt=122809
     CDS             1..1091
                     /gene="ZNF521"
                     /gene_synonym="EHZF; Evi3"
                     /coded_by="XM_054318497.1:1016..4291"
                     /db_xref="GeneID:25925"
                     /db_xref="HGNC:HGNC:24605"
                     /db_xref="MIM:610974"
ORIGIN      
        1 mqvhernkdg sqsgsrmedw kmkdtqkcsq ceegfdfped lqkhiaechp ecspnedraa
       61 lqcvychelf veetslmnhm eqvhsgekkn scsicsesfh tveelyshmd shqqpescnh
      121 snspslvtvg ytsvssttpd snlsvdsstm veaappipks rgrkraaqqt pdmtgpsskq
      181 akvtysciyc nkqlfsslav lqihlktmhl dkpeqahicq yclevlpsly nlnehlkqvh
      241 eaqdpglivs ampaivyqcn fcsevvndln tlqehircsh gfanpaakds naffcphcym
      301 gfltdsslee hirqvhcdls gsrfgspvlg tpkepvvevy scsyctnspi fnsvlklnkh
      361 ikenhknipl alnyihngkk sralsplspv aieqtslkmm qavggaparp tgeyicnqcg
      421 akytsldsfq thlkthldtv lpkltcpqcn kefpnqesll khvtihfmit styyicescd
      481 kqftsvddlq khlldmhtfv ffrctlcqev fdskvsiqlh lavkhsnekk vyrctscnwd
      541 frnetdlqlh vkhnhlenqg kvhkcifcge sfgtevelqc hitthskkyn ckfcskafha
      601 iillekhlre khcvfetktp ncgtngaseq vqkeevelqt lltnsqeshn shdgseedvd
      661 tsepmygcdi cgaaytmetl lqnhqlrdhn irpgesaivk kkaelikgny kcnvcsrtff
      721 senglrehmq thlgpvkhym cpicgerfps lltltehkvt hsksldtgnc rickmplqse
      781 eeflehcqmh pdlrnsltgf rcvvcmqtvt stlelkihgt fhmqktgngs avqttgrgqh
      841 vqklykcasc lkefrskqdl vkldinglpy glcagcvnls ksaspginvp pgtnrpglgq
      901 nenlsaiegk gkvgglktrc sscnvkfese selqnhiqti hrelvpdsns tqlktpqvsp
      961 mprispsqsd ekktyqcikc qmvfynewdi qvhvanhmid eglnhecklc sqtfdspakl
     1021 qchliehsfe gmggtfkcpv cftvfvqank lqqhifsahg qedkiydctq cpqkfffqte
     1081 lqnhtmtqhs s
//
LOCUS       XP_054174506             466 aa            linear   PRI 20-MAR-2023
DEFINITION  clusterin-like protein 1 isoform X5 [Homo sapiens].
ACCESSION   XP_054174506
VERSION     XP_054174506.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318531.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..466
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..466
                     /product="clusterin-like protein 1 isoform X5"
                     /calculated_mol_wt=54084
     CDS             1..466
                     /gene="CLUL1"
                     /gene_synonym="RA337M"
                     /coded_by="XM_054318531.1:36..1436"
                     /db_xref="GeneID:27098"
                     /db_xref="HGNC:HGNC:2096"
                     /db_xref="MIM:616990"
ORIGIN      
        1 mkppllvfiv cllwlkdshc aptwkdktai senlksfsev geidadeevk kaltgikqmk
       61 immerkekeh tnlmstlkkc reekqealkl lnevqehlee eerlcresla dswgecrscl
      121 enncmriytt cqpswssvkn kierffrkiy qflfpfhedn ekdlpisekl ieedaqltqm
      181 edvfsqltvd vnslfnrsfn vfrqmqqefd qtfqshfisd tdltepyffp afskepmtka
      241 dleqcwdipn ffqlfcnfsv siyesvseti tkmlkaiedl pkqdkapdhg gliskmlpgq
      301 drglcgeldq nlsrcfkfhe kcqkcqahls edcpdvpalh teldeairlv nvsnqqygqi
      361 lqmtrkhled taylvekmrg qfgwvselan qapeteiifn siqvvprihe gniskqdetm
      421 mtdlsilpss nftlkiplee saessnfigy vvakalqhfk ehfktw
//
LOCUS       XP_054175378             600 aa            linear   PRI 20-MAR-2023
DEFINITION  CBP80/20-dependent translation initiation factor isoform X3 [Homo
            sapiens].
ACCESSION   XP_054175378
VERSION     XP_054175378.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319403.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..600
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..600
                     /product="CBP80/20-dependent translation initiation factor
                     isoform X3"
                     /calculated_mol_wt=67652
     CDS             1..600
                     /gene="CTIF"
                     /gene_synonym="Gm672; KIAA0427"
                     /coded_by="XM_054319403.1:311..2113"
                     /db_xref="GeneID:9811"
                     /db_xref="HGNC:HGNC:23925"
                     /db_xref="MIM:613178"
ORIGIN      
        1 menssaasas seagssrsqe ieelerfids yvleyqvqgl ladktegdge sertqshisq
       61 wtadcsepld sscsfsrgra ppqqngskdn sldmlgtdiw aantfdsfsg atwdlqpekl
      121 dftqfhrkvr htpkqplphi dregcgkgkl edgdginlnd iekvlpawqg yhpmphevei
      181 ahtkklfrrr rndrrrqqrp pggnkpqqhg dhqpgsakhn rdhqksyqgg saphpsgrpt
      241 hhgysqnrrw hhgnmkhppg dkgeagahrn aketmtienp kledtagdtg hssleaprsp
      301 dtlapvaser lppqqsggpe vetkrkdsil perigerpki tllqsskdrl rrrlkekvpd
      361 evavetttpq qnkmdkliei lnsmrnnssd vdtklttfme eaqnstnsee mlgeivrtiy
      421 qkavsdrsfa ftaaklcdkm alfmvegtkf rslllnmlqk dftvreelqq qdverwlgfi
      481 tflcevfgtm rsstgepfrv lvcpiytclr ellqsqdvke davlccsmel qstgrlleeq
      541 lpemmtella sardkmlcps esmltrslll evielhansw npltppitqy ynrtiqklta
//
LOCUS       XP_054198920            1740 aa            linear   PRI 20-MAR-2023
DEFINITION  methyl-CpG-binding domain protein 5 isoform X1 [Homo sapiens].
ACCESSION   XP_054198920
VERSION     XP_054198920.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342945.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1740
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1740
                     /product="methyl-CpG-binding domain protein 5 isoform X1"
                     /calculated_mol_wt=185187
     CDS             1..1740
                     /gene="MBD5"
                     /gene_synonym="MRD1"
                     /coded_by="XM_054342945.1:1132..6354"
                     /db_xref="GeneID:55777"
                     /db_xref="HGNC:HGNC:20444"
                     /db_xref="MIM:611472"
ORIGIN      
        1 mnggkecdgg dkegglpaiq vpvgwqrrvd qngvlyvsps gsllscleqv ktylltdgtc
       61 kcglecplil pkvfnfdpga avkqrtaedv kadedvtklc ihkrkiiava tlhksmeaph
      121 pslvltspgg gtnatpvvps raatprsvrn kshegitnsv mpecknpfkl migssnamgr
      181 lyvqelpgsq qqelhpvypr qrlgssehgq kspfrgshgg lpspassgsq iygdgsispr
      241 tdplgspdvf trsnpgfhga pnsspihlnr tplsppsvml hgspvqssca magrtnipls
      301 ptlttkspvm kkpmcnfstn meipramfhh kppqgppppp ppscalqkkp ltsekdplgi
      361 ldpipskpvn qnpviinpts fhsnvhsqvp mmnvsmppav vplpsnlplp tvkpghmnhg
      421 shvqrvqhsa stslspspvt spvhmmgtgi grieaspqrs rssstssdhg nfmmppvgpq
      481 atssgikvpp rsprstigsp rpsmpsspst ksdghhqykd ipnpliagis nvlntpssaa
      541 fptasagsss vksqpgllgm plnqilnqhn aasfpassll saaakaqlan qnklagnnss
      601 sssnsgavag sgnteghstl ntmfpptanm llptgegqsg raalrdklms qqkdalrkrk
      661 qppttvlsll rqsqmdssav pkpgpdllrk qgqgsfpiss msqllqsmsc qsshlssnst
      721 pgcgasntal pcsanqlhft dpsmnssvlq niplrgeavh chnantnfvh snspvpnhhl
      781 aglinqiqas gncgmlsqsg malgnslhpn ppqsristss tpvipnsivs synqtsseag
      841 gsgpsssiai agtnhpaitk ttsvlqdgvi vttaagnplq sqlpigsdfp fvgqehalhf
      901 psnstsnnhl phplnpslls slpislpvnq qhllnqnlln ilqpsagegk seinlhplgf
      961 lnpnvnaala flssdmdgqv lqpvhfqlla allqnqaqaa amlplpsfnl tisdllqqqn
     1021 tplpsltqmt appdhlpsnq sdnsraetll tsplgnplps fagsdttfnp lflpavngas
     1081 glmtlnpqll ggvlnsasan tanhpevsia tssqattttt ttssavaalt vstlggtavv
     1141 smaetllnis nnagntpgpa klnsnsvvpq llnpllgtgl lgdmssinnt lsnhqlthlq
     1201 sllnnnqmfp pnqqqqqllq gyqnlqafqg qstipcpann npmaclfqnf qvrmqedaal
     1261 lnkristqpg ltalpenpnt tlppfqdtpc elqpridpsl gqqvkdglvv ggpgdasvda
     1321 iykavvdaas kgmqvvitta vnsttqispi palsamsaft asigdplnls savsavihgr
     1381 nmggvdhdgr lrnsrgarlp knldhgknvn egdgfeyfks aschtskkqw dgeqsprger
     1441 nrwkyeefld hpghihsspc herpnnvstl pflpgeqhpi llpprncpgd kileenfryn
     1501 nykrtmmsfk erlentverc ahingnrprq srgfgellst akqdlvleeq spsssnslen
     1561 slvkdyihyn gdfnaksvng cvpspsdaks isseddlrnp dspssnelih yrprtfnvgd
     1621 lvwgqikglt swpgklvred dvhnscqqsp eegkvwvmwf glhtftqvep eklktltegl
     1681 eaysrvrkrn rksgklnnhl eaaiheamse ldkmsgtvhq ipqgdrqmrp pkpkrrkisr
//
LOCUS       XP_054202901            1092 aa            linear   PRI 20-MAR-2023
DEFINITION  semaphorin-5B isoform X10 [Homo sapiens].
ACCESSION   XP_054202901
VERSION     XP_054202901.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346926.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1092
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1092
                     /product="semaphorin-5B isoform X10"
                     /calculated_mol_wt=119619
     CDS             1..1092
                     /gene="SEMA5B"
                     /gene_synonym="SEMAG; SemG"
                     /coded_by="XM_054346926.1:351..3629"
                     /db_xref="GeneID:54437"
                     /db_xref="HGNC:HGNC:10737"
                     /db_xref="MIM:609298"
ORIGIN      
        1 mvlagplavs lllpsltllv shlsssqdvs sepsseqqlc alskhptvaf edlqpwvsnf
       61 typgardfsq laldpsgnql ivgarnylfr lslanvsllq atewassedt rrscqskgkt
      121 eeecqnyvrv livagrkvfm cgtnafspmc tsrqvgnlsr tiekingvar cpydprhnst
      181 avissqgely aatvidfsgr dpaiyrslgs gpplrtaqyn skwlnepnfv aaydiglfay
      241 fflrenaveh dcgrtvysrv arvckndvgg rflledtwtt fmkarlncsr pgevpfyyne
      301 lqsafhlpeq dliygvfttn vnsiaasavc afnlsaisqa fngpfryqen praawlpian
      361 pipnfqcgtl petgpnenlt erslqdaqrl flmseavqpv tpepcvtqds vrfshlvvdl
      421 vqakdtlyhv lyigtesgti lkalstasrs lhgcyleelh vlppgrrepl rslrilhsar
      481 alfvglrdgv lrvplercaa yrsqgaclga rdpycgwdgk qqrcstleds snmslwtqni
      541 tacpvrnvtr dggfgpwspw qpcehldgdn sgsclcrars cdsprprcgg ldclgpaihi
      601 ancsrngawt pwsswalcst scgigfqvrq rscsnpaprh ggricvgksr eerfcnentp
      661 cpvpifwasw gswskcssnc gggmqsrrra cengnsclgc gvefktcnpe gcpevrrntp
      721 wtpwlpvnvt qggarqeqrf rftcraplad phglqfgrrr tetrtcpadg sgscdtdalv
      781 edllrsgsts phtvsggwaa wgpwsscsrd celgfrvrkr tctnpeprng glpcvgdaae
      841 yqdcnpqacp vrgawscwts wspcsascgg ghyqrtrsct spapspgedi clglhteeal
      901 catqacpgws pwsewskctd dgaqsrsrhc eellpgssac agnssqsrpc pyseipvilp
      961 assmeeatgc agfnlihlva tgiscflgsg lltlavylsc qhcqrqsqes tlvhpatpnh
     1021 lhykgggtpk nekytpmefk tlnknnlipd dranfyplqq tnvytttyyp splnkhsfrp
     1081 easpgqrcfp ns
//
LOCUS       XP_054203388             128 aa            linear   PRI 20-MAR-2023
DEFINITION  ras-related protein Rab-5A isoform X1 [Homo sapiens].
ACCESSION   XP_054203388
VERSION     XP_054203388.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347413.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..128
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..128
                     /product="ras-related protein Rab-5A isoform X1"
                     /calculated_mol_wt=14028
     CDS             1..128
                     /gene="RAB5A"
                     /gene_synonym="RAB5"
                     /coded_by="XM_054347413.1:344..730"
                     /db_xref="GeneID:5868"
                     /db_xref="HGNC:HGNC:9783"
                     /db_xref="MIM:179512"
ORIGIN      
        1 myyrgaqaai vvyditnees faraknwvke lqrqaspniv ialsgnkadl ankravdfqe
       61 aqsyaddnsl lfmetsakts mnvneifmai akklpknepq npgansargr gvdlteptqp
      121 trnqccsn
//
LOCUS       XP_054204539             795 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 5 isoform X2 [Homo sapiens].
ACCESSION   XP_054204539
VERSION     XP_054204539.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348564.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..795
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..795
                     /product="TBC1 domain family member 5 isoform X2"
                     /calculated_mol_wt=88874
     CDS             1..795
                     /gene="TBC1D5"
                     /coded_by="XM_054348564.1:373..2760"
                     /db_xref="GeneID:9779"
                     /db_xref="HGNC:HGNC:19166"
                     /db_xref="MIM:615740"
ORIGIN      
        1 myhslsetrh plqpeeqevg idplssysnk sggdsnkngr rtsstldseg tfnsyrkewe
       61 elfvnnnyla tirqkgingq lrssrfrsic wklflcvlpq dksqwisrie elrawysnik
      121 eihitnprkv vgqqdlminn plsqdegslw nkffqdkelr smieqdvkrt fpemqffqqe
      181 nvrkiltdvl fcyareneql lykqgmhell apivfvlhcd hqaflhases aqpseemktv
      241 lnpeylehda yavfsqlmet aepwfstfeh dgqkgketlm tpipfarpqd lgptiaivtk
      301 vnqiqdhllk khdielymhl nrleiapqiy glrwvrllfg refplqdllv vwdalfadgl
      361 slglvdyifv amllyirdal issnyqtclg llmhypfigd vhslilkalf lrdpkrnprp
      421 vtyqfhpnld yykargadlm nksrtnakga plninkvsns linfgrklis pamapgsagg
      481 pvpggnssss ssvviptrts aeapshhlqq qqqqqrlmks esmpvqlnkg lssknisssp
      541 sveslpggre ftgsppssat kkdsffsnis rsrshsktmg rkeseeelea qisflqgqln
      601 dldamckyca kvmdthlvni qdvilqenle kedqilvsla glkqikdilk gslrfnqsql
      661 eaeeneqiti adnhycssgq gqgrgqgqsv qmsgaikqas setpgctdrg nsddfilisk
      721 dddgssargs fsgqaqplrt lrstsgksqa pvcsplvfsd plmgpasass snpssspddd
      781 sskdsgftiv spldi
//
LOCUS       XP_054204767            2526 aa            linear   PRI 20-MAR-2023
DEFINITION  centromere-associated protein E isoform X15 [Homo sapiens].
ACCESSION   XP_054204767
VERSION     XP_054204767.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348792.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2526
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2526
                     /product="centromere-associated protein E isoform X15"
                     /calculated_mol_wt=295326
     CDS             1..2526
                     /gene="CENPE"
                     /gene_synonym="CENP-E; KIF10; MCPH13; PPP1R61"
                     /coded_by="XM_054348792.1:25..7605"
                     /db_xref="GeneID:1062"
                     /db_xref="HGNC:HGNC:1856"
                     /db_xref="MIM:117143"
ORIGIN      
        1 maeegavavc vrvrplnsre eslgetaqvy wktdnnviyq vdgsksfnfd rvfhgnettk
       61 nvyeeiaapi idsaiqgyng tifaygqtas gktytmmgse dhlgviprai hdifqkikkf
      121 pdrefllrvs ymeiynetit dllcgtqkmk pliiredvnr nvyvadltee vvytsemalk
      181 witkgeksrh ygetkmnqrs srshtifrmi lesrekgeps ncegsvkvsh lnlvdlagse
      241 raaqtgaagv rlkegcninr slfilgqvik klsdgqvggf inyrdskltr ilqnslggna
      301 ktriictitp vsfdetltal qfastakymk ntpyvnevst deallkryrk eimdlkkqle
      361 evsletraqa mekdqlaqll eekdllqkvq nekienltrm lvtsssltlq qelkakrkrr
      421 vtwclgkink mknsnyadqf niptnittkt hklsinllre idesvcsesd vfsntldtls
      481 eiewnpatkl lnqeniesel nslradydnl vldyeqlrte keemelklke kndldefeal
      541 erktkkdqen elsskvellr ekedqikklq eyidsqklen ikmdlsysle siedpkqmkq
      601 tlfdaetval dakresaflr senlelkekm kelattykqm endiqlyqsq leakkkmqvd
      661 lekelqsafn eitkltslid gkvpkdllcn lelegkitdl qkelnkevee nealreevil
      721 lselkslpse verlrkeiqd kseelhiits ekdklfsevv hkesrvqgll eeigktkddl
      781 attqsnykst dqefqnfktl hmdfeqkykm vleenermnq eivnlskeaq kfdsslgalk
      841 telsyktqel qektrevqer lnemeqlkeq lenrdstlqt verektlite klqqtleevk
      901 tltqekddlk qlqeslqier dqlksdihdt vnmnidtqeq lrnaleslkq hqetintlks
      961 kiseevsrnl hmeentgetk defqqkmvgi dkkqdleakn tqtltadvkd neiieqqrki
     1021 fsliqeknel qqmlesviae keqlktdlke niemtienqe elrllgdelk kqqeivaqek
     1081 nhaikkegel srtcdrlaev eeklkeksqq lqekqqqlln vqeemsemqk kineienlkn
     1141 elknkeltle hmeterlela qklnenyeev ksitkerkvl kelqksfete rdhlrgyire
     1201 ieatglqtke elkiahihlk ehqetidelr rsvsektaqi intqdleksh tklqeeipvl
     1261 heeqellpnv kevsetqetm nelellteqs ttkdsttlar iemerlrlne kfqesqeeik
     1321 sltkerdnlk tikealevkh dqlkehiret lakiqesqsk qeqslnmkek dnettkivse
     1381 meqfkpkdsa llrieiemlg lskrlqeshd emksvakekd dlqrlqevlq sesdqlkeni
     1441 keivakhlet eeelkvahcc lkeqeetine lrvnlseket eistiqkqle aindklqnki
     1501 qeiyekeeqf nikqisevqe kvnelkqfke hrkakdsalq sieskmlelt nrlqesqeei
     1561 qimikekeem krvqealqie rdqlkentke ivakmkesqe keyqflkmta vnetqekmce
     1621 iehlkeqfet qklnleniet enirltqilh enleemrsvt kerddlrsve etlkverdql
     1681 kenlretitr dlkiqeelri ahmhlkeqqe tidklrgivs ektdklsnmq kdlensnakl
     1741 qekiqelkan ehqlitlkkd vnetqkkvse meqlkkqikd qsltlsklei enlnlaqklh
     1801 enleemksvm kerdnlrrve etlklerdql keslqetkar dleiqqelkt armlskehke
     1861 tvdklrekis ektiqisdiq kdldkskdel qkkdrqnhqv kpekrllsdg qqhlteslre
     1921 kcsrikellk rysemddhye clnrlsldle keiefqkels mrvkanlslp ylqtkhiekl
     1981 ftanqrcsme fhrimkklky vlsyvtkike eqhesinkfe mdfidevekq kellikiqhl
     2041 qqdcdvpsre lrdlklnqnm dlhieeilkd fsesefpsik tefqqvlsnr kemtqfleew
     2101 lntrfdiekl kngiqkendr icqvnnffnn riiaimnest efeersatis keweqdlksl
     2161 kekneklfkn yqtlktslas gaqvnpttqd nknphvtsra tqlttekire lenslheake
     2221 samhkeskii kmqkelevtn diiaklqakv hesnkclekt ketiqvlqdk valgakpyke
     2281 eiedlkmklv kidlekmkna kefekeisat katveyqkev irllrenlrr sqqaqdtsvi
     2341 sehtdpqpsn kpltcgggsg ivqntkalil ksehirleke isklkqqneq likqknells
     2401 nnqhlsnevk twkertlkre ahkqvtcens pkspkvtgta skkkqitpsq ckernlqdpv
     2461 pkespkscff dsrskslpsp hpvryfdnss lglcpevqna gaesvdsqpg pwhassgkdv
     2521 pecktq
//
LOCUS       XP_054206038             984 aa            linear   PRI 20-MAR-2023
DEFINITION  mineralocorticoid receptor isoform X2 [Homo sapiens].
ACCESSION   XP_054206038
VERSION     XP_054206038.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350063.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..984
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..984
                     /product="mineralocorticoid receptor isoform X2"
                     /calculated_mol_wt=106965
     CDS             1..984
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /coded_by="XM_054350063.1:753..3707"
                     /db_xref="GeneID:4306"
                     /db_xref="HGNC:HGNC:7979"
                     /db_xref="MIM:600983"
ORIGIN      
        1 metkgyhslp egldmerrwg qvsqaverss lgptertden nymeivnvsc vsgaipnnst
       61 qgsskekqel lpclqqdnnr pgiltsdikt eleskelsat vaesmglymd svrdadysye
      121 qqnqqgsmsp akiyqnveql vkfykgnghr pstlscvntp lrsfmsdsgs svnggvmrai
      181 vkspimchek spsvcsplnm tssvcspagi nsvssttasf gsfpvhspit qgtpltcspn
      241 venrgsrshs pahasnvgsp lssplssmks sissppshcs vkspvsspnn vtlrssvssp
      301 aninnsrcsv sspsntnnrs tlsspaastv gsicspvnna fsytasgtsa gsstlrdvvp
      361 spdtqekgaq evpfpkteev esaisngvtg qlnivqyikp epdgafsssc lggnskinsd
      421 ssfsvpikqe stkhscsgts fkgnptvnpf pfmdgsyfsf mddkdyysls gilgppvpgf
      481 dgncegsgfp vgikqepddg syypeasips saivgvnsgg qsfhyrigaq gtislsrsar
      541 dqsfqhlssf ppvntlvesw kshgdlssrr sdgypvleyi penvssstlr svstgssrps
      601 kiclvcgdea sgchygvvtc gsckvffkra vegqhnylca grndciidki rrkncpacrl
      661 qkclqagmnl garkskklgk lkgiheeqpq qqqppppppp pqspeegtty iapakepsvn
      721 talvpqlsti sraltpspvm vleniepeiv yagydsskpd taenllstln rlagkqmiqv
      781 vkwakvlpgf knlpledqit liqyswmcls sfalswrsyk htnsqflyfa pdlvfneekm
      841 hqsamyelcq gmhqislqfv rlqltfeeyt imkvllllst ipkdglksqa afeemrtnyi
      901 kelrkmvtkc pnnsgqswqr fyqltkllds mhdlvsdlle fcfytfresh alkvefpaml
      961 veiisdqlpk vesgnakply fhrk
//
LOCUS       XP_054208104             779 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 26 isoform X14 [Homo sapiens].
ACCESSION   XP_054208104
VERSION     XP_054208104.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352129.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..779
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..779
                     /product="rho GTPase-activating protein 26 isoform X14"
                     /calculated_mol_wt=87841
     CDS             1..779
                     /gene="ARHGAP26"
                     /gene_synonym="GRAF; GRAF1; OPHN1L; OPHN1L1"
                     /coded_by="XM_054352129.1:3140..5479"
                     /db_xref="GeneID:23092"
                     /db_xref="HGNC:HGNC:17073"
                     /db_xref="MIM:605370"
ORIGIN      
        1 mssvggfeki ldlkhlssak rkfadslnef kfqcigdaet ddemciarsl qefatvlrnl
       61 ederirmien asevlitple kfrkeqigaa keakkkydke tekycgilek hlnlsskkke
      121 sqlqeadsqv dlvrqhfyev sleyvfkvqe vqerkmfefv epllaflqgl ftfyhhgyel
      181 akdfgdfktq ltisiqntrn rfegtrseve slmkkmkenp lehktispyt megylyvqek
      241 rhfgtswvkh yctyqrdskq itmvpfdqks ggkggedesv ilksctrrkt dsiekrfcfd
      301 veavdrpgvi tmqalseedr rlwmeamdgr epvynsnkds qsegtaqlds igfsiirkci
      361 havetrgine qglyrivgvn srvqkllsvl mdpktasete tdicaeweik titsalktyl
      421 rmlpgplmmy qfqrsfikaa klenqesrvs eihslvhrlp eknrqmlqll mnhlanvann
      481 hkqnlmtvan lgvvfgptll rpqeetvaai mdikfqnivi eilienheki fntvpdmplt
      541 naqlhlsrkk ssdskppscs erpltlfhtv qstekqeqrn siinsslesv ssnpnsilns
      601 ssslqpnmns sdpdlavvkp trpnslppnp sptsplspsw pmfsapsspm ptsstssdss
      661 pvrsvagfvw fsvaavvlsl arsslhavfs llvnfvpchp nlhllfdrpe eavhedsstp
      721 frkakalyac kaehdselsf tagtvfdnae cpsastaift atpklrappp ltwalplaa
//
LOCUS       XP_054210371             504 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C6orf118 isoform X3 [Homo sapiens].
ACCESSION   XP_054210371
VERSION     XP_054210371.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354396.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..504
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..504
                     /product="uncharacterized protein C6orf118 isoform X3"
                     /calculated_mol_wt=57171
     CDS             1..504
                     /gene="C6orf118"
                     /gene_synonym="bA85G2.1; dJ416F21.2"
                     /coded_by="XM_054354396.1:119..1633"
                     /db_xref="GeneID:168090"
                     /db_xref="HGNC:HGNC:21233"
ORIGIN      
        1 mphtgcgids gshfkkgsfs pwgvvfsllc iqrasgchqa glevylkwkh cetpgvktlc
       61 nlkhcetpgv ktlcnlkkll nrlqkdhred vylyisghln pnklyqppet ilqhwpnahr
      121 pkgerasevg eppagkvarm kealahftih talvpseaqd tplfrylnpq aslshtseed
      181 flpveavreg keekkggppg rgppgwrrre elrlpdlkvl cyqeagsrgt rdrhhyvssy
      241 lagatsadry rmflrfqkev lakqdllknd ftgskaaagh erklqqelqk ictcspqqfn
      301 rlhvfgkvfe dicnsslifg dllkkvkdey elymatlles qpaaqyeall aqlkalgqrp
      361 vktadmdlar eelrmlvtat kaaleqndrl rselemeval lqsakerses sekhiidenr
      421 ltltekvekk rceilskwde iqalekeikt tlvhtgisdi tenriksieh eaiqletenm
      481 ilkkkikgpl eiyqgickir gnrr
//
LOCUS       XP_054210930            1077 aa            linear   PRI 20-MAR-2023
DEFINITION  disheveled-associated activator of morphogenesis 2 isoform X8 [Homo
            sapiens].
ACCESSION   XP_054210930
VERSION     XP_054210930.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354955.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1077
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1077
                     /product="disheveled-associated activator of morphogenesis
                     2 isoform X8"
                     /calculated_mol_wt=124380
     CDS             1..1077
                     /gene="DAAM2"
                     /gene_synonym="dJ90A20A.1; NPHS24"
                     /coded_by="XM_054354955.1:6837..10070"
                     /db_xref="GeneID:23500"
                     /db_xref="HGNC:HGNC:18143"
                     /db_xref="MIM:606627"
ORIGIN      
        1 maprkrshhg lgflccfggs dipeinlrdn hplqfmefss pipnaeelni rfaelvdeld
       61 ltdknreamf alppekkwqi ycskkkeqed pnklatswpd yyidrinsma amqslyafde
      121 eetemrnqvv edlktalrtq pmrfvtrfie legltcllnf lrsmdhatce srihtsligc
      181 ikalmnnsqg rahvlaqpea istiaqslrt ensktkvavl eilgavclvp gghkkvlqam
      241 lhyqvyaaer trfqtllnel drslgryrde vnlktaimsf inavlnagag ednlefrlhl
      301 ryeflmlgiq pvidklrqhe naildkhldf femvrneddl elarrfdmvh idtksasqmf
      361 elihkklkyt eaypcllsvl hhclqmpykr nggyfqqwql ldrilqqivl qdergvdpdl
      421 aplenfnvkn ivnmlinene vkqwrdqaek frkehmelvs rlerkerece tktlekeemm
      481 rtlnkmkdkl aresqelrqa rgqvaelvaq lselstgpvs sppppggplt lsssmttndl
      541 pppppplpfa ccpppppppl ppggpptppg appclgmglp lpqdpypssd vplrkkrvpq
      601 pshplksfnw vklneervpg tvwneiddmq vfrildledf ekmfsayqrh qelitnpsqq
      661 kelgstediy lasrkvkels vidgrraqnc iillsklkls neeirqailk mdeqedlakd
      721 mleqllkfip eksdidllee hkheiermar adrflyemsr idhyqqrlqa lffkkkfqer
      781 laeakpkvea illasrelvr skrlrqmlev ilaignfmnk gqrggaygfr vaslnkiadt
      841 kssidrnisl lhylimilek hfpdilnmps elqhlpeaak vnlaelekev gnlrrglrav
      901 eveleyqrrq vrepsdkfvp vmsdfitvss fsfseledql neardkfaka lmhfgehdsk
      961 mqpdeffgif dtflqafsea rqdleamrrr keeeerrarm eamlkeqrer erwqrqrkvl
     1021 aagssleegg efddlvsalr sgevfdkdlc klkrsrkrsg sqalevtrer ainrlny
//
LOCUS       XP_054210989             534 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein kinase Fyn isoform X2 [Homo sapiens].
ACCESSION   XP_054210989
VERSION     XP_054210989.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355014.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..534
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..534
                     /product="tyrosine-protein kinase Fyn isoform X2"
                     /calculated_mol_wt=60010
     CDS             1..534
                     /gene="FYN"
                     /gene_synonym="p59-FYN; SLK; SYN"
                     /coded_by="XM_054355014.1:263..1867"
                     /db_xref="GeneID:2534"
                     /db_xref="HGNC:HGNC:4037"
                     /db_xref="MIM:137025"
ORIGIN      
        1 mgcvqckdke atklteerdg slnqssgyry gtdptpqhyp sfgvtsipny nnfhaaggqg
       61 ltvfggvnss shtgtlrtrg gtgvtlfval ydyeartedd lsfhkgekfq ilnssegdww
      121 earslttget gyipsnyvap vdsiqaeewy fgklgrkdae rqllsfgnpr gtflireset
      181 tkgayslsir dwddmkgdhv khykirkldn ggyyittraq fetlqqlvqh ysekadglcf
      241 nltviassct pqtsglakda wevarrslcl ekklgqgcfa evwlgtwngn tkvaiktlkp
      301 gtmspesfle eaqimkklkh dklvqlyavv seepiyivte ymnkgslldf lkdgegralk
      361 lpnlvdmaaq vaagmayier mnyihrdlrs anilvgngli ckiadfglar liedneytar
      421 qgakfpikwt apeaalygrf tiksdvwsfg illtelvtkg rvpypgmnnr evleqvergy
      481 rmpcpqdcpi slhelmihcw kkdpeerptf eylqsfledy ftatepqyqp genl
//
LOCUS       XP_054211675             506 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil alpha-helical rod protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_054211675
VERSION     XP_054211675.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355700.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 8% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..506
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..506
                     /product="coiled-coil alpha-helical rod protein 1 isoform
                     X4"
                     /calculated_mol_wt=57407
     CDS             1..506
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /coded_by="XM_054355700.1:509..2029"
                     /db_xref="GeneID:54535"
                     /db_xref="HGNC:HGNC:13930"
                     /db_xref="MIM:605310"
ORIGIN      
        1 mqhlqedrds lhataellqv rvqslthila lqeeeltrkv qpsdslepef trkcqsllnr
       61 wrekvfalmv qlkaqelehs dsvkqlkgqv aslqekvtsq sqeqailqrs lqdkaaevev
      121 ermgakglql elsraqearr wwqqqtasae eqlrlvvnav sssqiwlett makvegaaaq
      181 lpslnnrlsy avrkvhtirg liarklalaq lrqescplpp pvtdvslelq qlreernrld
      241 aelqlsarli qqevgrareq geaerqqlsk vaqqleqelq qtqeslaslg lqlevarqcq
      301 qesteeaasl rqeltqqqel ygqalqekva evetrlreql sdterrlnea rrehakavvs
      361 lrqiqrraaq ekersqelrr lqeearkeeg qrlarrlqel erdknlmlat lqqegllsry
      421 kqqrlltvlp slldkkksvv ssprppecsa sapvaaavpt resikgslsv llddlqdlse
      481 aiskeeavcq gdnldrcssc npqmss
//
LOCUS       XP_054216878            1103 aa            linear   PRI 20-MAR-2023
DEFINITION  focal adhesion kinase 1 isoform X20 [Homo sapiens].
ACCESSION   XP_054216878
VERSION     XP_054216878.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360903.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1103
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1103
                     /product="focal adhesion kinase 1 isoform X20"
                     /calculated_mol_wt=125037
     CDS             1..1103
                     /gene="PTK2"
                     /gene_synonym="FADK; FADK 1; FAK; FAK1; FRNK; p125FAK;
                     pp125FAK; PPP1R71"
                     /coded_by="XM_054360903.1:181..3492"
                     /db_xref="GeneID:5747"
                     /db_xref="HGNC:HGNC:9611"
                     /db_xref="MIM:600758"
ORIGIN      
        1 mwnpltwmad ciaelglpci fqlqiqcllq fpqsssrite eydrylassk imaaayldpn
       61 lnhtpnsstk thlgtgmers pgamervlkv fhyfesnsep ttwasiirhg datdvrgiiq
      121 kivdshkvkh vacygfrlsh lrseevhwlh vdmgvssvre kyelahppee wkyelriryl
      181 pkgflnqfte dkptlnffyq qvksdymlei adqvdqeial klgcleirrs ywemrgnale
      241 kksnyevlek dvglkrffpk slldsvkakt lrkliqqtfr qfanlnrees ilkffeilsp
      301 vyrfdkecfk calgsswiis velaigpeeg isyltdkgcn pthladftqv qtiqysnsed
      361 kdrkgmlqlk iagapepltv tapsltiaen madlidgycr lvngtsqsfi irpqkegera
      421 lpsipklans ekqgmrthav svsetddyae iideedtytm pstrdyeiqr erielgrcig
      481 egqfgdvhqg iymspenpal avaiktcknc tsdsvrekfl qealtmrqfd hphivkligv
      541 itenpvwiim elctlgelrs flqvrkysld laslilyayq lstalayles krfvhrdiaa
      601 rnvlvssndc vklgdfglsr ymedstyyka skgklpikwm apesinfrrf tsasdvwmfg
      661 vcmweilmhg vkpfqgvknn dvigrienge rlpmppncpp tlyslmtkcw aydpsrrprf
      721 telkaqlsti leeekaqqee rmrmesrrqa tvswdsggsd eappkpsrpg ypsprssegf
      781 ypspqhmvqt nhyqvsgypg shgitamags iypgqaslld qtdswnhrpq eiamwqpnve
      841 dstvldlrgi gqvlpthlme erlirqqqem eedqrwleke erflkpdvrl srgsidredg
      901 slqgpignqh iyqpvgkpdp aappkkpprp gapghlgsla slsspadsyn egvklqpqei
      961 sppptanldr sndkvyenvt glvkaviems skiqpappee yvpmvkevgl alrtllatvd
     1021 etipllpast hreiemaqkl lnsdlgelin kmklaqqyvm tslqqeykkq mltaahalav
     1081 daknlldvid qarlkmlgqt rph
//
LOCUS       XP_054183259            2038 aa            linear   PRI 20-MAR-2023
DEFINITION  transcriptional regulator ATRX isoform X8 [Homo sapiens].
ACCESSION   XP_054183259
VERSION     XP_054183259.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327284.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2038
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2038
                     /product="transcriptional regulator ATRX isoform X8"
                     /calculated_mol_wt=230345
     CDS             1..2038
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP;
                     ZNF-HX"
                     /coded_by="XM_054327284.1:216..6332"
                     /db_xref="GeneID:546"
                     /db_xref="HGNC:HGNC:886"
                     /db_xref="MIM:300032"
ORIGIN      
        1 mtaepmsesk lntlvqklhd flahsseese etsspprlam nqntdkisgs gsnsdmmens
       61 keegtsssek skssgssrsk rkpsivtkyv esddekpldd etvnedasne nsenditmqs
      121 lpkgtvivqp epvlnedkdd fkgpefrsrs kmktenlkkr gedglhgivs ctacgqqvnh
      181 fqkdsiyrhp slqvlicknc fkyymsddis rdsdgmdeqc rwcaeggnli ccdfchnafc
      241 kkcilrnlgr kelstimden nqwycyichp eplldlvtac nsvfenleql lqqnkkkikv
      301 dseksnkvye htsrfspkkt ssncngeekk lddscsgsvt ysysalivpk emikkakkli
      361 ettanmnssy vkflkqatdn seissatklr qlkafksvla dikkahlale edlnsefram
      421 davnkekntk ehkvidakfe tkarkgekpc alekkdisks eaklsrkqvd sehmhqnvpt
      481 eeqrtnkstg gehkksdrke epqyepants edldmdivsv pssvpedife nletamevqs
      541 svdhqgdgss gteqevesss vklnisskdn rggiksktta kvtkelyvkl tpvslsnspi
      601 kgadcqevpq dkdgykscgl npklekcglg qensdnehlv enevslllee sdlrrsprvk
      661 ttplrrptet npvtsnsdee cnetvkekqk lsvpvrkkdk rnssdsaidn pkpnklpksk
      721 qsetvdqnsd sdemlailke vsrmshssss dtdineihtn hktlydlktq agkddkgkrk
      781 rksstsgsdf dtkkgksaks siiskkkrqt qsessnydse lekeiksmsk igaarttkkr
      841 ipntkdfdss edekhskkgm dnqghknlkt sqegssddae rkqeretfss aegtvdkdtt
      901 imelrdrlpk kqqasastdg vdklsgkeqs ftslevrkva etkekskhlk tktckkvqdg
      961 lsdiaekflk kdqsdetsed dkkqskkgte ekkkpsdfkk kvikmeqqye sssdgteklp
     1021 ereeichfpk gikqikngtt dgekkskkir dktskkkdel sdyaekstgk gdscdssedk
     1081 kskngaygre kkrckllgks srkrqdcsss dtekysmked gcnssdkrlk rielrerrnl
     1141 sskrntkeiq sgssssdaee ssednkkkkq rtsskkkavi vkekkrnslr tstkrkqadi
     1201 tsssssdied ddqnsigegs sdeqkikpvt enlvlsshtg fcqssgdeal sksvpvtvdd
     1261 ddddndpenr iakkmlleei kanlssdedg ssddepeegk krtgkqneen pgdeeaknqv
     1321 nsesdsdsee skkpryrhrl lrhkltvsdg esgeekktkp kehkevkgrn rrkvssedse
     1381 dsdfqesgvs eevsesedeq rprtrsakka eleenqrsyk qkkkrrrikv qedsssenks
     1441 nseeeeeeke eeeeeeeeee eeeedendds kspgkgrkki rkilkddklr tetqnalkee
     1501 eerrkriaer erereklrev ieiedasptk cpittklvld edeetkeplv qvhrnmvikl
     1561 kphqvdgvqf mwdcccesvk ktkkspgsgc ilahcmglgk tlqvvsflht vllcdkldfs
     1621 talvvcplnt alnwmnefek wqeglkddek levselatvk rpqersymlq rwqedggvmi
     1681 igyemyrnla qgrnvksrkl keifnkalvd pgpdfvvcde ghilkneasa vskamnsirs
     1741 rrriiltgtp lqnnlieyhc mvnfikenll gsikefrnrf inpiqngqca dstmvdvrvm
     1801 kkrahilyem lagcvqrkdy taltkflppk heyvlavrmt siqcklyqyy ldhltgvgnn
     1861 seggrgkaga klfqdfqmls riwthpwclq ldyiskenkg yfdedsmdef iasdsdetsm
     1921 slssddytkk kkkgkkgkkd ssssgsgsdn dvevikvwns rsrgggegnv detgnnpsvs
     1981 lkleeniykv lticpdirre lislngklkk vkllllliqa aqlqtgtkil lqmlmlrf
//
LOCUS       XP_054183936             195 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 164 isoform X3 [Homo sapiens].
ACCESSION   XP_054183936
VERSION     XP_054183936.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327961.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..195
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..195
                     /product="transmembrane protein 164 isoform X3"
                     /calculated_mol_wt=22085
     CDS             1..195
                     /gene="TMEM164"
                     /gene_synonym="bB360B22.3"
                     /coded_by="XM_054327961.1:155..742"
                     /db_xref="GeneID:84187"
                     /db_xref="HGNC:HGNC:26217"
ORIGIN      
        1 miedcptlas llchssiqsq kwkqlageif llacppcrga ivvfklqmhm lngallallf
       61 pvvntrllpf eleiyyiqhv mlyvvpiyll wkggaytpep lssfrwalls tglmffyhfs
      121 vlqilglvte vnlnnmlcpa isdpfygpwy riwasghqtl mtmthgklvi lfsymagplc
      181 kylldllrlp akkid
//
LOCUS       NP_001400958            1135 aa            linear   PRI 24-MAR-2023
DEFINITION  integrin alpha-7 isoform 8 [Homo sapiens].
ACCESSION   NP_001400958 XP_047284747
VERSION     NP_001400958.1
DBSOURCE    REFSEQ: accession NM_001414029.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1135)
  AUTHORS   Bugiardini E, Nunes AM, Oliveira-Santos A, Dagda M, Fontelonga TM,
            Barraza-Flores P, Pittman AM, Morrow JM, Parton M, Houlden H,
            Elliott PM, Syrris P, Maas RP, Akhtar MM, Kusters B, Raaphorst J,
            Schouten M, Kamsteeg EJ, van Engelen B, Hanna MG, Phadke R, Lopes
            LR, Matthews E and Burkin DJ.
  TITLE     Integrin alpha7 Mutations Are Associated With Adult-Onset Cardiac
            Dysfunction in Humans and Mice
  JOURNAL   J Am Heart Assoc 11 (23), e026494 (2022)
   PUBMED   36444867
  REMARK    GeneRIF: Integrin alpha7 Mutations Are Associated With Adult-Onset
            Cardiac Dysfunction in Humans and Mice.
REFERENCE   2  (residues 1 to 1135)
  AUTHORS   Li C, Liu J, Yang W, Chen C and Wu B.
  TITLE     The relationship among integrin alpha 7, CD133 and Nestin as well
            as their correlation with clinicopathological features and
            prognosis in astrocytoma patients
  JOURNAL   Clin Neurol Neurosurg 217, 107198 (2022)
   PUBMED   35430343
  REMARK    GeneRIF: The relationship among integrin alpha 7, CD133 and Nestin
            as well as their correlation with clinicopathological features and
            prognosis in astrocytoma patients.
REFERENCE   3  (residues 1 to 1135)
  AUTHORS   Yuan N, Wang L, Xi Q, Zou N, Zhang X, Lu X and Zhang Z.
  TITLE     ITGA7, CD133, ALDH1 are inter-correlated, and linked with poor
            differentiation, lymph node metastasis as well as worse survival in
            surgical cervical cancer
  JOURNAL   J Obstet Gynaecol Res 48 (4), 1011-1018 (2022)
   PUBMED   35194895
  REMARK    GeneRIF: ITGA7, CD133, ALDH1 are inter-correlated, and linked with
            poor differentiation, lymph node metastasis as well as worse
            survival in surgical cervical cancer.
REFERENCE   4  (residues 1 to 1135)
  AUTHORS   Zhang X, Ke S, Lu Y and An H.
  TITLE     ITGA7 relates to disease risk, pathological feature, treatment
            response and survival in Ph- acute lymphoblastic leukemia
  JOURNAL   Biomark Med 15 (17), 1589-1597 (2021)
   PUBMED   34743543
  REMARK    GeneRIF: ITGA7 relates to disease risk, pathological feature,
            treatment response and survival in Ph(-) acute lymphoblastic
            leukemia.
REFERENCE   5  (residues 1 to 1135)
  AUTHORS   Han S, Seo MH, Lim S and Yeo S.
  TITLE     Decrease in ITGA7 Levels Is Associated with an Increase in
            alpha-Synuclein Levels in an MPTP-Induced Parkinson's Disease Mouse
            Model and SH-SY5Y Cells
  JOURNAL   Int J Mol Sci 22 (23), 12616 (2021)
   PUBMED   34884422
  REMARK    GeneRIF: Decrease in ITGA7 Levels Is Associated with an Increase in
            alpha-Synuclein Levels in an MPTP-Induced Parkinson's Disease Mouse
            Model and SH-SY5Y Cells.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1135)
  AUTHORS   Wang W, Wu W, Desai T, Ward DC and Kaufman SJ.
  TITLE     Localization of the alpha 7 integrin gene (ITGA7) on human
            chromosome 12q13: clustering of integrin and Hox genes implies
            parallel evolution of these gene families
  JOURNAL   Genomics 26 (3), 568-570 (1995)
   PUBMED   7607681
REFERENCE   7  (residues 1 to 1135)
  AUTHORS   Song WK, Wang W, Sato H, Bielser DA and Kaufman SJ.
  TITLE     Expression of alpha 7 integrin cytoplasmic domains during skeletal
            muscle development: alternate forms, conformational change, and
            homologies with serine/threonine kinases and tyrosine phosphatases
  JOURNAL   J Cell Sci 106 (Pt 4), 1139-1152 (1993)
   PUBMED   8126096
REFERENCE   8  (residues 1 to 1135)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301468
REFERENCE   9  (residues 1 to 1135)
  AUTHORS   Song WK, Wang W, Foster RF, Bielser DA and Kaufman SJ.
  TITLE     H36-alpha 7 is a novel integrin alpha chain that is developmentally
            regulated during skeletal myogenesis
  JOURNAL   J Cell Biol 117 (3), 643-657 (1992)
   PUBMED   1315319
  REMARK    Erratum:[J Cell Biol 1992 Jul;118(1):213]
REFERENCE   10 (residues 1 to 1135)
  AUTHORS   Kramer RH, Vu MP, Cheng YF, Ramos DM, Timpl R and Waleh N.
  TITLE     Laminin-binding integrin alpha 7 beta 1: functional
            characterization and expression in normal and malignant melanocytes
  JOURNAL   Cell Regul 2 (10), 805-817 (1991)
   PUBMED   1839357
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009779.18.
            On Nov 14, 2022 this sequence version replaced XP_047284747.1.
            
            Summary: The protein encoded by this gene belongs to the integrin
            alpha chain family. Integrins are heterodimeric integral membrane
            proteins composed of an alpha chain and a beta chain. They mediate
            a wide spectrum of cell-cell and cell-matrix interactions, and thus
            play a role in cell migration, morphologic development,
            differentiation, and metastasis. This protein functions as a
            receptor for the basement membrane protein laminin-1. It is mainly
            expressed in skeletal and cardiac muscles and may be involved in
            differentiation and migration processes during myogenesis. Defects
            in this gene are associated with congenital myopathy. Alternatively
            spliced transcript variants encoding different isoforms have been
            noted for this gene. [provided by RefSeq, Feb 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.1245908.1,
                                           SRR14038191.3579366.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1135
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     Protein         1..1135
                     /product="integrin alpha-7 isoform 8"
                     /note="integrin alpha 7 chain"
                     /calculated_mol_wt=123885
     Region          48..109
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          263..>305
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          322..375
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          381..433
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          443..>482
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          475..960
                     /region_name="Integrin_alpha2"
                     /note="Integrin alpha; pfam08441"
                     /db_xref="CDD:430000"
     CDS             1..1135
                     /gene="ITGA7"
                     /coded_by="NM_001414029.1:223..3630"
                     /note="isoform 8 is encoded by transcript variant 8"
                     /db_xref="GeneID:3679"
                     /db_xref="HGNC:HGNC:6143"
                     /db_xref="MIM:600536"
ORIGIN      
        1 magarsrdpw gasgicylfg sllvellfsr avafnldvmg alrkegepgs lfgfsvalhr
       61 qlqprpqswl lvgapqalal pgqqanrtgg lfacplslee tdcyrvdidq gadmqkeske
      121 nqwlgvsvrs qgpggkivtc ahryearqrv dqiletrdmi grcfvlsqdl airdeldgge
      181 wkfcegrpqg heqfgfcqqg taaafspdsh yllfgapgty nwkgtarvel caqgsadlah
      241 lddgpyeagg ekeqdprlip vpansyfgfs idsgkglvra eelsfvagap ranhkgavvi
      301 lrkdsasrlv pevmlsgerl tsgfgyslav adlnsdgwpd livgapyffe rqeelggavy
      361 vylnqgghwa gisplrlcgs pdsmfgisla vlgdlnqdgf pdiavgapfd gdgkvfiyhg
      421 sslgvvakps qvlegeavgi ksfgyslsgs ldmdgnqypd llvgsladta vlfrarpilh
      481 vshevsiapr sidleqpnca gghsvcvdlr vcfsyiavps sysptvdadt drrlrgqvpr
      541 vtflsrnlee pkhqasgtvw lkhqhdrvcg damfqlqenv kdklraivvt lsyslqtprl
      601 rrqapgqglp pvapilnahq pstqraeihf lkqgcgedki cqsnlqlvra rfctrvsdte
      661 fqplpmdvdg ttalfalsgq pviglelmvt nlpsdpaqpq adgddaheaq llvmlpdslh
      721 ysgvraldpa ekplclsnen ashvecelgn pmkrgaqvtf ylilstsgis iettelevel
      781 llatiseqel hpvsararvf ielplsiagm aipqqlffsg vvrgeramqs erdvgskvky
      841 evtvsnqgqs lrtlgsafln imwpheiang kwllypmqve leggqgpgqk glcsprpnil
      901 hldvdsrdrr rreleppeqq epgerqepsm swwpvssaek kknitldcar gtancvvfsc
      961 plysfdraav lhvwgrlwns tfleeysavk slevivrani tvkssiknlm lrdastvipv
     1021 mvyldpmavv aegvpwwvil lavlagllvl allvlllwkm gffkrakhpe atvpqyhavk
     1081 ipredrqqfk eektgtilrn nwgsprregp dahpilaadg hpelgpdghp gpgta
//
LOCUS       NP_663768                388 aa            linear   PRI 24-MAR-2023
DEFINITION  single-stranded DNA-binding protein 3 isoform a [Homo sapiens].
ACCESSION   NP_663768 XP_001130465
VERSION     NP_663768.1
DBSOURCE    REFSEQ: accession NM_145716.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 388)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 388)
  AUTHORS   Hubel P, Urban C, Bergant V, Schneider WM, Knauer B, Stukalov A,
            Scaturro P, Mann A, Brunotte L, Hoffmann HH, Schoggins JW,
            Schwemmle M, Mann M, Rice CM and Pichlmair A.
  TITLE     A protein-interaction network of interferon-stimulated genes
            extends the innate immune system landscape
  JOURNAL   Nat Immunol 20 (4), 493-502 (2019)
   PUBMED   30833792
REFERENCE   3  (residues 1 to 388)
  AUTHORS   Yin Z, Zhang K, Peng X, Jiang Z, Yuan W, Wang Y, Li Y, Ye X, Dong
            Y, Wan Y, Ni B, Zhu P, Fan X, Wu X and Mo X.
  TITLE     [SIVA1 Regulates the Stability of Single-Stranded DNA-Binding
            Protein 3 Isoforms]
  JOURNAL   Mol Biol (Mosk) 52 (5), 817-825 (2018)
   PUBMED   30363057
  REMARK    GeneRIF: SIVA1 enhances SSBP3 ubiquitination and promotes SSBP3
            protein turnover
REFERENCE   4  (residues 1 to 388)
  AUTHORS   Galloway JR, Bethea M, Liu Y, Underwood R, Mobley JA and Hunter CS.
  TITLE     SSBP3 Interacts With Islet-1 and Ldb1 to Impact Pancreatic
            beta-Cell Target Genes
  JOURNAL   Mol Endocrinol 29 (12), 1774-1786 (2015)
   PUBMED   26495868
  REMARK    GeneRIF: SSBP3 Interacts With Islet-1 and Ldb1 to Impact Pancreatic
            beta-Cell Target Genes
REFERENCE   5  (residues 1 to 388)
  AUTHORS   Ravasi T, Suzuki H, Cannistraci CV, Katayama S, Bajic VB, Tan K,
            Akalin A, Schmeier S, Kanamori-Katayama M, Bertin N, Carninci P,
            Daub CO, Forrest AR, Gough J, Grimmond S, Han JH, Hashimoto T, Hide
            W, Hofmann O, Kamburov A, Kaur M, Kawaji H, Kubosaki A, Lassmann T,
            van Nimwegen E, MacPherson CR, Ogawa C, Radovanovic A, Schwartz A,
            Teasdale RD, Tegner J, Lenhard B, Teichmann SA, Arakawa T, Ninomiya
            N, Murakami K, Tagami M, Fukuda S, Imamura K, Kai C, Ishihara R,
            Kitazume Y, Kawai J, Hume DA, Ideker T and Hayashizaki Y.
  TITLE     An atlas of combinatorial transcriptional regulation in mouse and
            man
  JOURNAL   Cell 140 (5), 744-752 (2010)
   PUBMED   20211142
  REMARK    Erratum:[Cell. 2010 Apr 16;141(2):369. Kamburov, Atanas [added];
            Kaur, Mandeep [added]; MacPherson, Cameron Ross [added];
            Radovanovic, Aleksandar [added]; Schwartz, Ariel [added]]
REFERENCE   6  (residues 1 to 388)
  AUTHORS   Dey-Guha I, Malik N, Lesourne R, Love PE and Westphal H.
  TITLE     Tyrosine phosphorylation controls nuclear localization and
            transcriptional activity of Ssdp1 in mammalian cells
  JOURNAL   J Cell Biochem 103 (6), 1856-1865 (2008)
   PUBMED   18080319
  REMARK    GeneRIF: phosphorylation involving N-terminal tyrosine residues of
            Ssdp1 is a means of regulating its nuclear localization and
            subsequent transcriptional activation of LIM-HD complexes.
REFERENCE   7  (residues 1 to 388)
  AUTHORS   Wu L.
  TITLE     Structure and functional characterization of single-strand DNA
            binding protein SSDP1: carboxyl-terminal of SSDP1 has transcription
            activity
  JOURNAL   Biochem Biophys Res Commun 339 (3), 977-984 (2006)
   PUBMED   16325762
  REMARK    GeneRIF: Thus, biochemical data of SSDP1 presented by this study
            provides biochemical evidence for a better understanding of
            transcriptional regulation.
REFERENCE   8  (residues 1 to 388)
  AUTHORS   Chen L, Segal D, Hukriede NA, Podtelejnikov AV, Bayarsaihan D,
            Kennison JA, Ogryzko VV, Dawid IB and Westphal H.
  TITLE     Ssdp proteins interact with the LIM-domain-binding protein Ldb1 to
            regulate development
  JOURNAL   Proc Natl Acad Sci U S A 99 (22), 14320-14325 (2002)
   PUBMED   12381786
  REMARK    GeneRIF: Ssdp proteins interact with the LIM-domain-binding protein
            Ldb1 to regulate development
REFERENCE   9  (residues 1 to 388)
  AUTHORS   Castro P, Liang H, Liang JC and Nagarajan L.
  TITLE     A novel, evolutionarily conserved gene family with putative
            sequence-specific single-stranded DNA-binding activity
  JOURNAL   Genomics 80 (1), 78-85 (2002)
   PUBMED   12079286
REFERENCE   10 (residues 1 to 388)
  AUTHORS   Raval-Fernandes S, Kickhoefer VA and Rome LH.
  TITLE     Cloning of a cDNA encoding a sequence-specific
            single-stranded-DNA-binding protein from Rattus norvegicus
  JOURNAL   Gene 237 (1), 201-207 (1999)
   PUBMED   10524251
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL035415.22, DN602300.1, AF500116.1, BC066365.1, AL161644.6 and
            BF060746.1.
            On Sep 20, 2006 this sequence version replaced XP_001130465.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC066365.1, ERR4643895.40680.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000610401.6/ ENSP00000479674.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..388
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     Protein         1..388
                     /product="single-stranded DNA-binding protein 3 isoform a"
                     /note="sequence-specific single-stranded-DNA-binding
                     protein"
                     /calculated_mol_wt=40290
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9BWW4.1)"
     Region          17..43
                     /region_name="LisH"
                     /note="Lissencephaly type-1-like homology motif;
                     smart00667"
                     /db_xref="CDD:128913"
     Region          81..365
                     /region_name="SSDP"
                     /note="Single-stranded DNA binding protein, SSDP;
                     pfam04503"
                     /db_xref="CDD:427984"
     Region          101..388
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BWW4.1)"
     Site            155
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q9BWW4.1)"
     Site            161
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q9BWW4.1)"
     Site            165
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q9BWW4.1)"
     Site            347
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BWW4.1)"
     Site            352
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9BWW4.1)"
     Site            355
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D032; propagated from
                     UniProtKB/Swiss-Prot (Q9BWW4.1)"
     Site            360
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9BWW4.1)"
     Site            381
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9BWW4.1)"
     Site            387
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (Q9BWW4.1)"
     CDS             1..388
                     /gene="SSBP3"
                     /gene_synonym="CSDP; SSDP; SSDP1"
                     /coded_by="NM_145716.4:387..1553"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS591.1"
                     /db_xref="GeneID:23648"
                     /db_xref="HGNC:HGNC:15674"
                     /db_xref="MIM:607390"
ORIGIN      
        1 mfakgkgsav psdgqarekl alyvyeyllh vgaqksaqtf lseirwekni tlgeppgflh
       61 swwcvfwdly caaperrdtc ehsseakafh dysaaaapsp vlgnippndg mpggpippgf
      121 fqgppgsqps phaqppphnp ssmmgphsqp fmspryaggp rppirmgnqp pggvpgtqpl
      181 lpnsmdptrq qghpnmggsm qrmnpprgmg pmgpgpqnyg sgmrpppnsl gpampginmg
      241 pgagrpwpnp nsansipyss sspgtyvgpp ggggppgtpi mpspadstns sdniytminp
      301 vppggsrsnf pmgpgsdgpm ggmggmephh mngslgsgdi dglpknspnn isgisnppgt
      361 prddgelggn flhsfqndny spsmtmsv
//
LOCUS       NP_001357173             414 aa            linear   PRI 03-APR-2023
DEFINITION  HERV-H LTR-associating protein 2 isoform a precursor [Homo
            sapiens].
ACCESSION   NP_001357173 XP_016861131
VERSION     NP_001357173.1
DBSOURCE    REFSEQ: accession NM_001370244.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 414)
  AUTHORS   Nishihara D, Kijima T, Arai K and Kamai T.
  TITLE     Increased co-expression of stromal HHLA2 and fibroblast activation
            protein in upper tract urothelial carcinoma
  JOURNAL   Int Urol Nephrol 55 (4), 867-874 (2023)
   PUBMED   36598731
  REMARK    GeneRIF: Increased co-expression of stromal HHLA2 and fibroblast
            activation protein in upper tract urothelial carcinoma.
REFERENCE   2  (residues 1 to 414)
  AUTHORS   Kula A, Dawidowicz M, Mielcarska S, Kiczmer P, Skiba H, Krygier M,
            Chrabanska M, Piecuch J, Szrot M, Robotycka J, Ochman B,
            Strzalkowska B, Czuba Z, Swietochowska E and Waniczek D.
  TITLE     Overexpression and Role of HHLA2, a Novel Immune Checkpoint, in
            Colorectal Cancer
  JOURNAL   Int J Mol Sci 24 (6), 5876 (2023)
   PUBMED   36982953
  REMARK    GeneRIF: Overexpression and Role of HHLA2, a Novel Immune
            Checkpoint, in Colorectal Cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 414)
  AUTHORS   Ahangar NK, Khalaj-Kondori M, Alizadeh N, Mokhtarzadeh A,
            Baghbanzadeh A, Shadbad MA, Dolatkhah K and Baradaran B.
  TITLE     Silencing tumor-intrinsic HHLA2 potentiates the anti-tumoral effect
            of paclitaxel on MG63 cells: Another side of immune checkpoint
  JOURNAL   Gene 855, 147086 (2023)
   PUBMED   36535461
  REMARK    GeneRIF: Silencing tumor-intrinsic HHLA2 potentiates the
            anti-tumoral effect of paclitaxel on MG63 cells: Another side of
            immune checkpoint.
REFERENCE   4  (residues 1 to 414)
  AUTHORS   Xu L, Li F, Jiang M, Li Z, Xu D, Jing J, Wang J and Ding J.
  TITLE     Immunosuppression by Inflammation-Stimulated Amplification of
            Myeloid-Derived Suppressor Cells and Changes in Expression of
            Immune Checkpoint HHLA2 in Chronic Obstructive Pulmonary Disease
  JOURNAL   Int J Chron Obstruct Pulmon Dis 18, 139-153 (2023)
   PUBMED   36846109
  REMARK    GeneRIF: Immunosuppression by Inflammation-Stimulated Amplification
            of Myeloid-Derived Suppressor Cells and Changes in Expression of
            Immune Checkpoint HHLA2 in Chronic Obstructive Pulmonary Disease.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 414)
  AUTHORS   Byers JT, Paniccia A, Kaplan J, Koenig M, Kahn N, Wilson L, Chen L,
            Schulick RD, Edil BH and Zhu Y.
  TITLE     Expression of the Novel Costimulatory Molecule B7-H5 in Pancreatic
            Cancer
  JOURNAL   Ann Surg Oncol 22 Suppl 3, S1574-S1579 (2015)
   PUBMED   25519928
  REMARK    GeneRIF: Low B7-H5 expression is associated with pancreatic
            adenocarcinomas.
REFERENCE   6  (residues 1 to 414)
  AUTHORS   Janakiram M, Chinai JM, Fineberg S, Fiser A, Montagna C, Medavarapu
            R, Castano E, Jeon H, Ohaegbulam KC, Zhao R, Zhao A, Almo SC,
            Sparano JA and Zang X.
  TITLE     Expression, Clinical Significance, and Receptor Identification of
            the Newest B7 Family Member HHLA2 Protein
  JOURNAL   Clin Cancer Res 21 (10), 2359-2366 (2015)
   PUBMED   25549724
  REMARK    GeneRIF: The HHLA2 pathway represents a novel immunosuppressive
            mechanism within the tumor microenvironment.
REFERENCE   7  (residues 1 to 414)
  AUTHORS   Zhao R, Chinai JM, Buhl S, Scandiuzzi L, Ray A, Jeon H, Ohaegbulam
            KC, Ghosh K, Zhao A, Scharff MD and Zang X.
  TITLE     HHLA2 is a member of the B7 family and inhibits human CD4 and CD8
            T-cell function
  JOURNAL   Proc Natl Acad Sci U S A 110 (24), 9879-9884 (2013)
   PUBMED   23716685
  REMARK    GeneRIF: Data indicate that HHLA2 protein was predominantly found
            on cell membranes with some in the cytoplasm.
REFERENCE   8  (residues 1 to 414)
  AUTHORS   Zhu Y, Yao S, Iliopoulou BP, Han X, Augustine MM, Xu H, Phennicie
            RT, Flies SJ, Broadwater M, Ruff W, Taube JM, Zheng L, Luo L, Zhu
            G, Chen J and Chen L.
  TITLE     B7-H5 costimulates human T cells via CD28H
  JOURNAL   Nat Commun 4, 2043 (2013)
   PUBMED   23784006
  REMARK    GeneRIF: B7 homologue 5 (B7-H5), was identified as a specific
            ligand for CD28H
REFERENCE   9  (residues 1 to 414)
  AUTHORS   Flajnik MF, Tlapakova T, Criscitiello MF, Krylov V and Ohta Y.
  TITLE     Evolution of the B7 family: co-evolution of B7H6 and NKp30,
            identification of a new B7 family member, B7H7, and of B7's
            historical relationship with the MHC
  JOURNAL   Immunogenetics 64 (8), 571-590 (2012)
   PUBMED   22488247
  REMARK    Erratum:[Immunogenetics. 2013 Jul;65(7):559]
REFERENCE   10 (residues 1 to 414)
  AUTHORS   Mager DL, Hunter DG, Schertzer M and Freeman JD.
  TITLE     Endogenous retroviruses provide the primary polyadenylation signal
            for two new human genes (HHLA2 and HHLA3)
  JOURNAL   Genomics 59 (3), 255-263 (1999)
   PUBMED   10444326
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC078855.13 and AC135308.2.
            On May 2, 2019 this sequence version replaced XP_016861131.1.
            
            Summary: This gene encodes a protein ligand found on the surface of
            monocytes. The encoded protein is thought to regulate cell-mediated
            immunity by binding to a receptor on T lymphocytes and inhibiting
            the proliferation of these cells. Alternate splicing results in
            multiple transcript variants. [provided by RefSeq, Sep 2013].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.2042713.1,
                                           ERR279849.5677.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..414
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.13"
     Protein         1..414
                     /product="HERV-H LTR-associating protein 2 isoform a
                     precursor"
                     /note="HERV-H LTR-associating protein 2; human endogenous
                     retrovirus-H long terminal repeat-associating protein 2"
                     /calculated_mol_wt=44555
     sig_peptide     1..22
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2314
     mat_peptide     23..414
                     /product="HERV-H LTR-associating protein 2.
                     /id=PRO_0000249709"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM44.1)"
                     /calculated_mol_wt=44555
     Region          33..138
                     /region_name="IgV_HHLA2"
                     /note="Immunoglobulin Variable (IgV) domain in HERV-H
                     LTR-associating 2 (HHLA2); cd16091"
                     /db_xref="CDD:409512"
     Region          33..52
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409512"
     Region          33..36
                     /region_name="putative Ig strand A"
                     /note="putative Ig strand A [structural motif]"
                     /db_xref="CDD:409512"
     Region          39..42
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409512"
     Region          47..51
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409512"
     Region          53..59
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409512"
     Region          60..71
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409512"
     Region          60..64
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409512"
     Region          72..87
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409512"
     Region          72..76
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409512"
     Region          79..82
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409512"
     Region          88..125
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409512"
     Site            90
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UM44.1)"
     Region          91..95
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409512"
     Site            103
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UM44.1)"
     Region          104..108
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409512"
     Region          118..123
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409512"
     Region          126..128
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409512"
     Region          129..138
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409512"
     Region          131..138
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409512"
     Region          140..220
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          155..159
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          170..173
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          197..201
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          207..212
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          231..330
                     /region_name="V-set"
                     /note="Immunoglobulin V-set domain; pfam07686"
                     /db_xref="CDD:429596"
     Region          239..243
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          257..261
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          300..304
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Site            318
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UM44.1)"
     Site            345..365
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM44.1)"
     Region          383..414
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM44.1)"
     CDS             1..414
                     /gene="HHLA2"
                     /gene_synonym="B7-H5; B7-H7; B7H7; B7y"
                     /coded_by="NM_001370244.1:157..1401"
                     /note="isoform a precursor is encoded by transcript
                     variant 6"
                     /db_xref="CCDS:CCDS46883.1"
                     /db_xref="GeneID:11148"
                     /db_xref="HGNC:HGNC:4905"
                     /db_xref="MIM:604371"
ORIGIN      
        1 mkaqtalsff lilitslsgs qgifplaffi yvpmneqivi grldediilp ssfergsevv
       61 ihwkyqdsyk vhsyykgsdh lesqdpryan rtslfyneiq ngnaslffrr vslldegiyt
      121 cyvgtaiqvi tnkvvlkvgv fltpvmkyek rntnsflics vlsvyprpii twkmdntpis
      181 ennmeetgsl dsfsinspln itgsnssyec tiensllkqt wtgrwtmkdg lhkmqsehvs
      241 lscqpvndyf spnqdfkvtw srmksgtfsv layylsssqn tiinesrfsw nkelinqsdf
      301 smnlmdlnls dsgeylcnis sdeytlltih tvhvepsqet ashnkglwil vpsailaafl
      361 liwsvkccra qlearrsrhp adgaqqercc vppgercpsa pdngeenvpl sgkv
//
LOCUS       NP_075593                733 aa            linear   PRI 03-APR-2023
DEFINITION  fibroblast growth factor receptor 1 isoform 3 precursor [Homo
            sapiens].
ACCESSION   NP_075593
VERSION     NP_075593.1
DBSOURCE    REFSEQ: accession NM_023105.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 733)
  AUTHORS   Deng Y, Huang X, Hu Y, Zhong W, Zhang H, Mo C, Wang H, Ding BS and
            Wang C.
  TITLE     Deficiency of endothelial FGFR1 signaling via upregulation of ROCK2
            activity aggravated ALI/ARDS
  JOURNAL   Front Immunol 14, 1041533 (2023)
   PUBMED   36969192
  REMARK    GeneRIF: Deficiency of endothelial FGFR1 signaling via upregulation
            of ROCK2 activity aggravated ALI/ARDS.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 733)
  AUTHORS   Chu G, Li P, Zhao Q, He R and Zhao Y.
  TITLE     Mutation spectrum of Kallmann syndrome: identification of five
            novel mutations across ANOS1 and FGFR1
  JOURNAL   Reprod Biol Endocrinol 21 (1), 23 (2023)
   PUBMED   36859276
  REMARK    GeneRIF: Mutation spectrum of Kallmann syndrome: identification of
            five novel mutations across ANOS1 and FGFR1.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 733)
  AUTHORS   Twigg SR, Burns HD, Oldridge M, Heath JK and Wilkie AO.
  TITLE     Conserved use of a non-canonical 5' splice site (/GA) in
            alternative splicing by fibroblast growth factor receptors 1, 2 and
            3
  JOURNAL   Hum Mol Genet 7 (4), 685-691 (1998)
   PUBMED   9499422
REFERENCE   4  (residues 1 to 733)
  AUTHORS   Wang LY, Edenson SP, Yu YL, Senderowicz L and Turck CW.
  TITLE     A natural kinase-deficient variant of fibroblast growth factor
            receptor 1
  JOURNAL   Biochemistry 35 (31), 10134-10142 (1996)
   PUBMED   8756477
REFERENCE   5  (residues 1 to 733)
  AUTHORS   Moog,U. and Dobyns,W.B.
  TITLE     Encephalocraniocutaneous Lipomatosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   35099867
REFERENCE   6  (residues 1 to 733)
  AUTHORS   Dhamija,R. and Babovic-Vuksanovic,D.
  TITLE     FGFR1-Related Hartsfield Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26937548
REFERENCE   7  (residues 1 to 733)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301702
REFERENCE   8  (residues 1 to 733)
  AUTHORS   Wenger,T., Miller,D. and Evans,K.
  TITLE     FGFR Craniosynostosis Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301628
REFERENCE   9  (residues 1 to 733)
  AUTHORS   Balasubramanian,R. and Crowley,W.F. Jr.
  TITLE     Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301509
REFERENCE   10 (residues 1 to 733)
  AUTHORS   Hattori Y, Odagiri H, Katoh O, Sakamoto H, Morita T, Shimotohno K,
            Tobinai K, Sugimura T and Terada M.
  TITLE     K-sam-related gene, N-sam, encodes fibroblast growth factor
            receptor and is expressed in T-lymphocytic tumors
  JOURNAL   Cancer Res 52 (12), 3367-3371 (1992)
   PUBMED   1317750
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CX756209.1, M34185.1,
            BC018128.1, CX757985.1, BQ774633.1, AK130555.1 and AW206093.1.
            
            Summary: The protein encoded by this gene is a member of the
            fibroblast growth factor receptor (FGFR) family, where amino acid
            sequence is highly conserved between members and throughout
            evolution. FGFR family members differ from one another in their
            ligand affinities and tissue distribution. A full-length
            representative protein consists of an extracellular region,
            composed of three immunoglobulin-like domains, a single hydrophobic
            membrane-spanning segment and a cytoplasmic tyrosine kinase domain.
            The extracellular portion of the protein interacts with fibroblast
            growth factors, setting in motion a cascade of downstream signals,
            ultimately influencing mitogenesis and differentiation. This
            particular family member binds both acidic and basic fibroblast
            growth factors and is involved in limb induction. Mutations in this
            gene have been associated with Pfeiffer syndrome, Jackson-Weiss
            syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and
            autosomal dominant Kallmann syndrome 2. Chromosomal aberrations
            involving this gene are associated with stem cell
            myeloproliferative disorder and stem cell leukemia lymphoma
            syndrome. Alternatively spliced variants which encode different
            protein isoforms have been described; however, not all variants
            have been fully characterized. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            exon, compared to variant 1. The resulting isoform (3), also known
            as isoform Beta A1, II, H2, and the 2-Ig Domain+2 AA insert form,
            lacks the first Ig domain, compared to isoform 1. Both variants 3
            and 13 encode the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M34185.1, X57119.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..733
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.23"
     Protein         1..733
                     /product="fibroblast growth factor receptor 1 isoform 3
                     precursor"
                     /EC_number="2.7.10.1"
                     /note="hydroxyaryl-protein kinase; fms-related tyrosine
                     kinase 2; heparin-binding growth factor receptor; FMS-like
                     tyrosine kinase 2; basic fibroblast growth factor receptor
                     1; proto-oncogene c-Fgr; FGFR1/PLAG1 fusion"
                     /calculated_mol_wt=79737
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2444
     mat_peptide     22..733
                     /product="fibroblast growth factor receptor 1 isoform 3"
                     /calculated_mol_wt=79737
     Region          64..158
                     /region_name="IgI_2_FGFR"
                     /note="Second immunoglobulin (Ig)-like domain of
                     fibroblast growth factor (FGF) receptor; member of the
                     I-set of IgSF domains; cd05857"
                     /db_xref="CDD:409443"
     Region          64..67
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409443"
     Region          75..80
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409443"
     Site            order(76,78,80)
                     /site_type="other"
                     /note="FGF binding site [polypeptide binding]"
                     /db_xref="CDD:409443"
     Site            order(77,84..86,88)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:409443"
     Region          84..92
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409443"
     Region          98..103
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409443"
     Region          106..108
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409443"
     Region          117..120
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409443"
     Region          124..129
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409443"
     Region          138..145
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409443"
     Region          148..158
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409443"
     Region          166..270
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          184..188
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          197..201
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          235..239
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          249..254
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          262..265
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          375..676
                     /region_name="PTKc_FGFR1"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Fibroblast Growth Factor Receptor 1; cd05098"
                     /db_xref="CDD:270678"
     Site            order(395..396,398,400,403,423,425,456,472..475,479,534,
                     538..539,541,552,570..574,583,617)
                     /site_type="active"
                     /db_xref="CDD:270678"
     Site            order(395..396,398,400,403,423,425,456,472..475,479,
                     538..539,541,552)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270678"
     Site            order(534,538,570..574,583,617)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270678"
     Site            551..576
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270678"
     CDS             1..733
                     /gene="FGFR1"
                     /gene_synonym="bFGF-R-1; BFGFR; CD331; CEK; ECCL; FGFBR;
                     FGFR-1; FLG; FLT-2; FLT2; HBGFR; HH2; HRTFDS; KAL2; N-SAM;
                     OGD"
                     /coded_by="NM_023105.3:744..2945"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS43730.1"
                     /db_xref="GeneID:2260"
                     /db_xref="HGNC:HGNC:3688"
                     /db_xref="MIM:136350"
ORIGIN      
        1 mwswkcllfw avlvtatlct arpsptlpeq dalpsseddd ddddssseek etdntkpnrm
       61 pvapywtspe kmekklhavp aaktvkfkcp ssgtpnptlr wlkngkefkp dhriggykvr
      121 yatwsiimds vvpsdkgnyt civeneygsi nhtyqldvve rsphrpilqa glpanktval
      181 gsnvefmckv ysdpqphiqw lkhievngsk igpdnlpyvq ilktagvntt dkemevlhlr
      241 nvsfedagey tclagnsigl shhsawltvl ealeerpavm tsplyleiii yctgaflisc
      301 mvgsvivykm ksgtkksdfh sqmavhklak siplrrqvtv sadssasmns gvllvrpsrl
      361 sssgtpmlag vseyelpedp rwelprdrlv lgkplgegcf gqvvlaeaig ldkdkpnrvt
      421 kvavkmlksd atekdlsdli sememmkmig khkniinllg actqdgplyv iveyaskgnl
      481 reylqarrpp gleycynpsh npeeqlsskd lvscayqvar gmeylaskkc ihrdlaarnv
      541 lvtednvmki adfglardih hidyykkttn grlpvkwmap ealfdriyth qsdvwsfgvl
      601 lweiftlggs pypgvpveel fkllkeghrm dkpsnctnel ymmmrdcwha vpsqrptfkq
      661 lvedldriva ltsnqeyldl smpldqysps fpdtrsstcs sgedsvfshe plpeepclpr
      721 hpaqlanggl krr
//
LOCUS       NP_006252                226 aa            linear   PRI 03-APR-2023
DEFINITION  homeobox protein prophet of Pit-1 [Homo sapiens].
ACCESSION   NP_006252
VERSION     NP_006252.4
DBSOURCE    REFSEQ: accession NM_006261.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 226)
  AUTHORS   Almatrafi AM, Hibshi AM and Basit S.
  TITLE     Association of Homozygous PROP1 Mutation in a Saudi Family with
            Combined Pituitary Hormone Deficiency
  JOURNAL   Medicina (Kaunas) 59 (3), 474 (2023)
   PUBMED   36984475
  REMARK    GeneRIF: Association of Homozygous PROP1 Mutation in a Saudi Family
            with Combined Pituitary Hormone Deficiency.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 226)
  AUTHORS   Bulut FD, Ozdemir Dilek S, Kotan D, Mengen E, Gurbuz F and Yuksel
            B.
  TITLE     Mutations Within the Transcription Factor PROP1 in a Cohort of
            Turkish Patients with Combined Pituitary Hormone Deficiency
  JOURNAL   J Clin Res Pediatr Endocrinol 12 (3), 261-268 (2020)
   PUBMED   31948187
  REMARK    GeneRIF: Mutations Within the Transcription Factor PROP1 in a
            Cohort of Turkish Patients with Combined Pituitary Hormone
            Deficiency
REFERENCE   3  (residues 1 to 226)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 226)
  AUTHORS   Correa FA, Nakaguma M, Madeira JLO, Nishi MY, Abrao MG, Jorge AAL,
            Carvalho LR, Arnhold IJP and Mendonca BB.
  TITLE     Combined pituitary hormone deficiency caused by PROP1 mutations:
            update 20 years post-discovery
  JOURNAL   Arch Endocrinol Metab 63 (2), 167-174 (2019)
   PUBMED   31090814
  REMARK    GeneRIF: A summary of phenotypes in patients with combined
            pituitary hormone deficiency caused by PROP1 mutations (Review).
            Review article
REFERENCE   5  (residues 1 to 226)
  AUTHORS   Madeira JL, Nishi MY, Nakaguma M, Benedetti AF, Biscotto IP,
            Fernandes T, Pequeno T, Figueiredo T, Franca MM, Correa FA, Otto
            AP, Abrao M, Miras MB, Santos S, Jorge AA, Costalonga EF, Mendonca
            BB, Arnhold IJ and Carvalho LR.
  TITLE     Molecular analysis of brazilian patients with combined pituitary
            hormone deficiency and orthotopic posterior pituitary lobe reveals
            eight different PROP1 alterations with three novel mutations
  JOURNAL   Clin Endocrinol (Oxf) 87 (6), 725-732 (2017)
   PUBMED   28734020
  REMARK    GeneRIF: PROP1 mutations are a prevalent cause of congenital CPHD
            with OPP, and therefore, PROP1 sequencing must be the first step of
            molecular investigation in patients with CPHD and OPP, especially
            in populations with a high frequency of PROP1 mutations.
REFERENCE   6  (residues 1 to 226)
  AUTHORS   Cogan JD, Wu W, Phillips JA 3rd, Arnhold IJ, Agapito A, Fofanova
            OV, Osorio MG, Bircan I, Moreno A and Mendonca BB.
  TITLE     The PROP1 2-base pair deletion is a common cause of combined
            pituitary hormone deficiency
  JOURNAL   J Clin Endocrinol Metab 83 (9), 3346-3349 (1998)
   PUBMED   9745452
REFERENCE   7  (residues 1 to 226)
  AUTHORS   Amendt BA, Sutherland LB, Semina EV and Russo AF.
  TITLE     The molecular basis of Rieger syndrome. Analysis of Pitx2
            homeodomain protein activities
  JOURNAL   J Biol Chem 273 (32), 20066-20072 (1998)
   PUBMED   9685346
REFERENCE   8  (residues 1 to 226)
  AUTHORS   Fofanova O, Takamura N, Kinoshita E, Parks JS, Brown MR, Peterkova
            VA, Evgrafov OV, Goncharov NP, Bulatov AA, Dedov II and Yamashita
            S.
  TITLE     Compound heterozygous deletion of the PROP-1 gene in children with
            combined pituitary hormone deficiency
  JOURNAL   J Clin Endocrinol Metab 83 (7), 2601-2604 (1998)
   PUBMED   9661653
REFERENCE   9  (residues 1 to 226)
  AUTHORS   Wu W, Cogan JD, Pfaffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn
            SE, Brown MR, Mullis PE, Parks JS, Phillips JA 3rd and Rosenfeld
            MG.
  TITLE     Mutations in PROP1 cause familial combined pituitary hormone
            deficiency
  JOURNAL   Nat Genet 18 (2), 147-149 (1998)
   PUBMED   9462743
REFERENCE   10 (residues 1 to 226)
  AUTHORS   Carvalho,L.R., Nishi,M.Y., Correa,F.A., Moreira Marques,J.,
            Arnhold,I.J.P. and Mendonca,B.B.
  TITLE     PROP1-Related Combined Pituitary Hormone Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301521
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC136940.2.
            This sequence is a reference standard in the RefSeqGene project.
            On May 21, 2020 this sequence version replaced NP_006252.3.
            
            Summary: This gene encodes a paired-like homeodomain transcription
            factor in the developing pituitary gland. Expression occurs prior
            to and is required for expression of pou domain transcription
            factor 1, which is responsible for pituitary development and
            hormone expression. Mutations in this gene have been associated
            with combined pituitary hormone deficiency-2 as well as
            deficiencies in luteinizing hormone, follicle-stimulating hormone,
            growth hormone, prolactin, and thyroid-stimulating hormone.
            [provided by RefSeq, Sep 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF076215.1, BC069076.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968968,
                                           SAMN03465402 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308304.2/ ENSP00000311290.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..226
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     Protein         1..226
                     /product="homeobox protein prophet of Pit-1"
                     /note="prophet of Pit1, paired-like homeodomain
                     transcription factor; pituitary-specific homeodomain
                     factor"
                     /calculated_mol_wt=24853
     Region          1..75
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75360.2)"
     Site            order(70..74,76,93,99,112,114..115,118..119,121..123,
                     125..126)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          72..125
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     Site            order(72,75,115,118..119,122)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          196..226
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75360.2)"
     CDS             1..226
                     /gene="PROP1"
                     /gene_synonym="CPHD2; PROP-1"
                     /coded_by="NM_006261.5:310..990"
                     /db_xref="CCDS:CCDS4430.1"
                     /db_xref="GeneID:5626"
                     /db_xref="HGNC:HGNC:9455"
                     /db_xref="MIM:601538"
ORIGIN      
        1 meaerrrqae kpkkgrvgsn llperhpatg tptttvdssa ppcrrlpgag ggrsrfspqg
       61 gqrgrphsrr rhrttfspvq leqlesafgr nqypdiware slardtglse ariqvwfqnr
      121 rakqrkqers llqplahlsp aafssflpes tacpysyaap pppvtcfphp yshalpsqps
      181 tggafalshq sedwyptlhp apaghlpcpp pppmlplsle pskswn
//
LOCUS       NP_001341299             741 aa            linear   PRI 03-APR-2023
DEFINITION  fibroblast growth factor receptor 1 isoform 18 precursor [Homo
            sapiens].
ACCESSION   NP_001341299 XP_006716376
VERSION     NP_001341299.1
DBSOURCE    REFSEQ: accession NM_001354370.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 741)
  AUTHORS   Deng Y, Huang X, Hu Y, Zhong W, Zhang H, Mo C, Wang H, Ding BS and
            Wang C.
  TITLE     Deficiency of endothelial FGFR1 signaling via upregulation of ROCK2
            activity aggravated ALI/ARDS
  JOURNAL   Front Immunol 14, 1041533 (2023)
   PUBMED   36969192
  REMARK    GeneRIF: Deficiency of endothelial FGFR1 signaling via upregulation
            of ROCK2 activity aggravated ALI/ARDS.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 741)
  AUTHORS   Chu G, Li P, Zhao Q, He R and Zhao Y.
  TITLE     Mutation spectrum of Kallmann syndrome: identification of five
            novel mutations across ANOS1 and FGFR1
  JOURNAL   Reprod Biol Endocrinol 21 (1), 23 (2023)
   PUBMED   36859276
  REMARK    GeneRIF: Mutation spectrum of Kallmann syndrome: identification of
            five novel mutations across ANOS1 and FGFR1.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 741)
  AUTHORS   Twigg SR, Burns HD, Oldridge M, Heath JK and Wilkie AO.
  TITLE     Conserved use of a non-canonical 5' splice site (/GA) in
            alternative splicing by fibroblast growth factor receptors 1, 2 and
            3
  JOURNAL   Hum Mol Genet 7 (4), 685-691 (1998)
   PUBMED   9499422
REFERENCE   4  (residues 1 to 741)
  AUTHORS   Wang LY, Edenson SP, Yu YL, Senderowicz L and Turck CW.
  TITLE     A natural kinase-deficient variant of fibroblast growth factor
            receptor 1
  JOURNAL   Biochemistry 35 (31), 10134-10142 (1996)
   PUBMED   8756477
REFERENCE   5  (residues 1 to 741)
  AUTHORS   Moog,U. and Dobyns,W.B.
  TITLE     Encephalocraniocutaneous Lipomatosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   35099867
REFERENCE   6  (residues 1 to 741)
  AUTHORS   Dhamija,R. and Babovic-Vuksanovic,D.
  TITLE     FGFR1-Related Hartsfield Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26937548
REFERENCE   7  (residues 1 to 741)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301702
REFERENCE   8  (residues 1 to 741)
  AUTHORS   Wenger,T., Miller,D. and Evans,K.
  TITLE     FGFR Craniosynostosis Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301628
REFERENCE   9  (residues 1 to 741)
  AUTHORS   Balasubramanian,R. and Crowley,W.F. Jr.
  TITLE     Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301509
REFERENCE   10 (residues 1 to 741)
  AUTHORS   Hattori Y, Odagiri H, Katoh O, Sakamoto H, Morita T, Shimotohno K,
            Tobinai K, Sugimura T and Terada M.
  TITLE     K-sam-related gene, N-sam, encodes fibroblast growth factor
            receptor and is expressed in T-lymphocytic tumors
  JOURNAL   Cancer Res 52 (12), 3367-3371 (1992)
   PUBMED   1317750
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087623.21 and AW206093.1.
            On Aug 11, 2017 this sequence version replaced XP_006716376.1.
            
            Summary: The protein encoded by this gene is a member of the
            fibroblast growth factor receptor (FGFR) family, where amino acid
            sequence is highly conserved between members and throughout
            evolution. FGFR family members differ from one another in their
            ligand affinities and tissue distribution. A full-length
            representative protein consists of an extracellular region,
            composed of three immunoglobulin-like domains, a single hydrophobic
            membrane-spanning segment and a cytoplasmic tyrosine kinase domain.
            The extracellular portion of the protein interacts with fibroblast
            growth factors, setting in motion a cascade of downstream signals,
            ultimately influencing mitogenesis and differentiation. This
            particular family member binds both acidic and basic fibroblast
            growth factors and is involved in limb induction. Mutations in this
            gene have been associated with Pfeiffer syndrome, Jackson-Weiss
            syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and
            autosomal dominant Kallmann syndrome 2. Chromosomal aberrations
            involving this gene are associated with stem cell
            myeloproliferative disorder and stem cell leukemia lymphoma
            syndrome. Alternatively spliced variants which encode different
            protein isoforms have been described; however, not all variants
            have been fully characterized. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..741
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.23"
     Protein         1..741
                     /product="fibroblast growth factor receptor 1 isoform 18
                     precursor"
                     /EC_number="2.7.10.1"
                     /note="hydroxyaryl-protein kinase; fms-related tyrosine
                     kinase 2; heparin-binding growth factor receptor; FMS-like
                     tyrosine kinase 2; basic fibroblast growth factor receptor
                     1; proto-oncogene c-Fgr; FGFR1/PLAG1 fusion"
                     /calculated_mol_wt=80707
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2444
     Region          62..156
                     /region_name="IgI_2_FGFR"
                     /note="Second immunoglobulin (Ig)-like domain of
                     fibroblast growth factor (FGF) receptor; member of the
                     I-set of IgSF domains; cd05857"
                     /db_xref="CDD:409443"
     Region          62..65
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409443"
     Region          73..78
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409443"
     Site            order(74,76,78)
                     /site_type="other"
                     /note="FGF binding site [polypeptide binding]"
                     /db_xref="CDD:409443"
     Site            order(75,82..84,86)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:409443"
     Region          82..90
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409443"
     Region          96..101
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409443"
     Region          104..106
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409443"
     Region          115..118
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409443"
     Region          122..127
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409443"
     Region          136..143
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409443"
     Region          146..156
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409443"
     Region          164..268
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          182..186
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          195..199
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          233..237
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          247..252
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          260..263
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          373..673
                     /region_name="PTKc_FGFR1"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Fibroblast Growth Factor Receptor 1; cd05098"
                     /db_xref="CDD:270678"
     Site            order(393..394,396,398,401,421,423,454,470..473,477,532,
                     536..537,539,550,568..572,581,615)
                     /site_type="active"
                     /db_xref="CDD:270678"
     Site            order(393..394,396,398,401,421,423,454,470..473,477,
                     536..537,539,550)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270678"
     Site            order(532,536,568..572,581,615)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270678"
     Site            549..574
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270678"
     CDS             1..741
                     /gene="FGFR1"
                     /gene_synonym="bFGF-R-1; BFGFR; CD331; CEK; ECCL; FGFBR;
                     FGFR-1; FLG; FLT-2; FLT2; HBGFR; HH2; HRTFDS; KAL2; N-SAM;
                     OGD"
                     /coded_by="NM_001354370.2:744..2969"
                     /note="isoform 18 precursor is encoded by transcript
                     variant 18"
                     /db_xref="GeneID:2260"
                     /db_xref="HGNC:HGNC:3688"
                     /db_xref="MIM:136350"
ORIGIN      
        1 mwswkcllfw avlvtatlct arpsptlpeq dalpsseddd ddddssseek etdntkpnpv
       61 apywtspekm ekklhavpaa ktvkfkcpss gtpnptlrwl kngkefkpdh riggykvrya
      121 twsiimdsvv psdkgnytci veneygsinh tyqldvvers phrpilqagl panktvalgs
      181 nvefmckvys dpqphiqwlk hievngskig pdnlpyvqil ktagvnttdk emevlhlrnv
      241 sfedageytc lagnsiglsh hsawltvlea leerpavmts plyleiiiyc tgafliscmv
      301 gsvivykmks gtkksdfhsq mavhklaksi plrrqvtvsa dssasmnsgv llvrpsrlss
      361 sgtpmlagvs eyelpedprw elprdrlvlg kplgegcfgq vvlaeaigld kdkpnrvtkv
      421 avkmlksdat ekdlsdlise memmkmigkh kniinllgac tqdgplyviv eyaskgnlre
      481 ylqarrppgl eycynpshnp eeqlsskdlv scayqvargm eylaskkcih rdlaarnvlv
      541 tednvmkiad fglardihhi dyykkttngr lpvkwmapea lfdriythqs dvwsfgvllw
      601 eiftlggspy pgvpveelfk llkeghrmdk psnctnelym mmrdcwhavp sqrptfkqlv
      661 edldrivalt snqvlhpdlt thllplrcfw kvrkrrcllr gqephpcsrg agqrvkaqqp
      721 stmdgflqgn rwgwagegap t
//
LOCUS       NP_001161383             788 aa            linear   PRI 17-APR-2023
DEFINITION  ventricular zone-expressed PH domain-containing protein homolog 1
            isoform 2 [Homo sapiens].
ACCESSION   NP_001161383 XP_005247823
VERSION     NP_001161383.1
DBSOURCE    REFSEQ: accession NM_001167911.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 788)
  AUTHORS   Kollara A, Burt BD, Ringuette MJ and Brown TJ.
  TITLE     The adaptor protein VEPH1 interacts with the kinase domain of ERBB2
            and impacts EGF signaling in ovarian cancer cells
  JOURNAL   Cell Signal 106, 110634 (2023)
   PUBMED   36828346
  REMARK    GeneRIF: The adaptor protein VEPH1 interacts with the kinase domain
            of ERBB2 and impacts EGF signaling in ovarian cancer cells.
REFERENCE   2  (residues 1 to 788)
  AUTHORS   Dong P, Wang X, Liu L, Tang W, Ma L, Zeng W, Sun S, Zhang L, Zhang
            N, Shen X, Janssen HLA, Dong L, Zhang S and Chen S.
  TITLE     Dampened VEPH1 activates mTORC1 signaling by weakening the
            TSC1/TSC2 association in hepatocellular carcinoma
  JOURNAL   J Hepatol 73 (6), 1446-1459 (2020)
   PUBMED   32610114
  REMARK    GeneRIF: Dampened VEPH1 activates mTORC1 signaling by weakening the
            TSC1/TSC2 association in hepatocellular carcinoma.
REFERENCE   3  (residues 1 to 788)
  AUTHORS   Shi X, Xu C, Li Y, Wang H, Ma W, Tian Y, Yang H and Li L.
  TITLE     A novel role of VEPH1 in regulating AoSMC phenotypic switching
  JOURNAL   J Cell Physiol 235 (12), 9336-9346 (2020)
   PUBMED   32342520
  REMARK    GeneRIF: A novel role of VEPH1 in regulating AoSMC phenotypic
            switching.
REFERENCE   4  (residues 1 to 788)
  AUTHORS   Kollara A, Shathasivam P, Park S, Ringuette MJ and Brown TJ.
  TITLE     Increased androgen receptor levels and signaling in ovarian cancer
            cells by VEPH1 associated with suppression of SMAD3 and AKT
            activation
  JOURNAL   J Steroid Biochem Mol Biol 196, 105498 (2020)
   PUBMED   31614206
  REMARK    GeneRIF: VEPH1 acts to enhance Androgen Receptor (AR) activity in
            ovarian cancer cells by decreasing SMAD3 and pAKT levels, resulting
            in increased levels of AR protein.
REFERENCE   5  (residues 1 to 788)
  AUTHORS   Sundell GN, Arnold R, Ali M, Naksukpaiboon P, Orts J, Guntert P,
            Chi CN and Ivarsson Y.
  TITLE     Proteome-wide analysis of phospho-regulated PDZ domain interactions
  JOURNAL   Mol Syst Biol 14 (8), e8129 (2018)
   PUBMED   30126976
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 788)
  AUTHORS   Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML and Seielstad M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 788)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 788)
  AUTHORS   Barrios-Rodiles M, Brown KR, Ozdamar B, Bose R, Liu Z, Donovan RS,
            Shinjo F, Liu Y, Dembowy J, Taylor IW, Luga V, Przulj N, Robinson
            M, Suzuki H, Hayashizaki Y, Jurisica I and Wrana JL.
  TITLE     High-throughput mapping of a dynamic signaling network in mammalian
            cells
  JOURNAL   Science 307 (5715), 1621-1625 (2005)
   PUBMED   15761153
REFERENCE   9  (residues 1 to 788)
  AUTHORS   Muto E, Tabata Y, Taneda T, Aoki Y, Muto A, Arai K and Watanabe S.
  TITLE     Identification and characterization of Veph, a novel gene encoding
            a PH domain-containing protein expressed in the developing central
            nervous system of vertebrates
  JOURNAL   Biochimie 86 (8), 523-531 (2004)
   PUBMED   15388229
REFERENCE   10 (residues 1 to 788)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N,
            Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar
            M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC020630.21, AB051479.1, BC111017.1 and AC092944.14.
            On Aug 31, 2013 this sequence version replaced XP_005247823.1.
            
            Transcript Variant: This variant (3) lacks an in-frame exon in the
            coding region, compared to variant 1. The encoded isoform (2) is
            shorter, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC111017.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144333, SAMEA2147920
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..788
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.31-q25.32"
     Protein         1..788
                     /product="ventricular zone-expressed PH domain-containing
                     protein homolog 1 isoform 2"
                     /note="ventricular zone-expressed PH domain-containing
                     protein homolog 1; protein melted; ventricular zone
                     expressed PH domain homolog 1"
                     /calculated_mol_wt=89553
     Region          671..779
                     /region_name="PH_MELT_VEPH1"
                     /note="Melted pleckstrin homology (PH) domain; cd01264"
                     /db_xref="CDD:269965"
     CDS             1..788
                     /gene="VEPH1"
                     /gene_synonym="MELT; VEPH"
                     /coded_by="NM_001167911.2:298..2664"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS54662.1"
                     /db_xref="GeneID:79674"
                     /db_xref="HGNC:HGNC:25735"
                     /db_xref="MIM:609594"
ORIGIN      
        1 mhqlfrlvlg qkdlsragdl fslddseied sltealeqik iissssdyqt nnndqavvei
       61 citrittair etesiekhak alvglwdscl ehnlrpfgkd edtphakias dimscilqny
      121 nrppvmalai piavkflhrg nkelcrnmsn ylslaaitka dlladhtevi vksilqgntm
      181 llrvlpavye kqpqpinrhl tellalmsql eqpeqyhllr llhvaakkkq levvqkcipf
      241 lighlkdsth ndiilnilie iavyepvaln sflpmlkeig erfpyltgqm ariygavghv
      301 deerarsclt ylvsqlanme hsfhhillle iksitdtfss ilgpqsrdif rmsnsftaia
      361 klltrqlent kagsgrrkis teiefpekle etklivtene dheklqvkiq afedkinags
      421 ntpgsirrys lgqvskeerk nirfnrsksl afhtmltkgv gsddgedenr gdipasisls
      481 eidplgqgnd klpfktdter sqlgessvsy pniihidsen lsetvkensq eetpettasp
      541 ieyqdklylh lkknlskvka yameigkkip vpdqctiedt vrscvaklff tcslkghycl
      601 yskssfilis qepqpwiqim flfqqdldqv qlhleevrff dvfgfsetag awqcfmcnnp
      661 ekatvvnqdg qpliegklke kqvrwkfikr wktryftlag nqllfqkgks kddpddcpie
      721 lskvqsvkav akkrrdrslp rafeiftdnk tyvfkakdek naeewlqcin vavaqakere
      781 srevttyl
//
LOCUS       NP_001341148            1159 aa            linear   PRI 17-DEC-2022
DEFINITION  EH domain-binding protein 1 isoform 6 [Homo sapiens].
ACCESSION   NP_001341148 XP_016859141
VERSION     NP_001341148.1
DBSOURCE    REFSEQ: accession NM_001354219.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1159)
  AUTHORS   Rai A, Bleimling N, Vetter IR and Goody RS.
  TITLE     The mechanism of activation of the actin binding protein EHBP1 by
            Rab8 family members
  JOURNAL   Nat Commun 11 (1), 4187 (2020)
   PUBMED   32826901
  REMARK    GeneRIF: The mechanism of activation of the actin binding protein
            EHBP1 by Rab8 family members.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1159)
  AUTHORS   Beikzadeh B, Angaji SA and Abolhasani M.
  TITLE     Association study between common variations in some candidate genes
            and prostate adenocarcinoma predisposition through multi-stage
            approach in Iranian population
  JOURNAL   BMC Med Genet 21 (1), 81 (2020)
   PUBMED   32295536
  REMARK    GeneRIF: The purpose of this study was to evaluate the association
            of rs16901979, rs4242382 and rs1447295 on 8q24 locus, rs2735839
            (KLK3 gene) and rs721048 (EHBP1 gene) with prostate adenocarcinoma
            through multi-stage approach to identify the polymorphisms
            associated with prostate cancer and use them as screening factors
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1159)
  AUTHORS   Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni
            S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS,
            Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R,
            Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K,
            Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K,
            Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen
            M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson
            PKE, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte
            IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena
            R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ,
            Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik
            EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher
            D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL,
            Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney ASF, Doring
            A, Elliott P, Epstein SE, Ingi Eyjolfsson G, Gigante B, Goodarzi
            MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL,
            Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones
            MR, Kaleebu P, Kastelein JJP, Khaw KT, Kim E, Klopp N, Komulainen
            P, Kumari M, Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos
            RJF, Mach F, McArdle WL, Meisinger C, Mitchell BD, Muller G,
            Nagaraja R, Narisu N, Nieminen TVM, Nsubuga RN, Olafsson I, Ong KK,
            Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP,
            Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl
            H, Seeley J, Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret
            L, Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga
            C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH,
            Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud
            M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier
            M, Campbell H, Chakravarti A, Chambers JC, Chen YI, Collins FS,
            Cooper RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrieres
            J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V,
            Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN,
            Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K,
            Iribarren C, Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A,
            Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J,
            Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz
            W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L,
            Morris AD, Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller
            PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D,
            Salomaa V, Sanghera DK, Saramies J, Schwarz PEH, Sheu WH, Shuldiner
            AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO,
            Tremoli E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P,
            Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BHR, Ordovas
            JM, Boerwinkle E, Palmer CNA, Thorsteinsdottir U, Chasman DI,
            Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS,
            Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E and
            Abecasis GR.
  CONSRTM   Global Lipids Genetics Consortium
  TITLE     Discovery and refinement of loci associated with lipid levels
  JOURNAL   Nat Genet 45 (11), 1274-1283 (2013)
   PUBMED   24097068
REFERENCE   4  (residues 1 to 1159)
  AUTHORS   Kenny EE, Pe'er I, Karban A, Ozelius L, Mitchell AA, Ng SM, Erazo
            M, Ostrer H, Abraham C, Abreu MT, Atzmon G, Barzilai N, Brant SR,
            Bressman S, Burns ER, Chowers Y, Clark LN, Darvasi A, Doheny D,
            Duerr RH, Eliakim R, Giladi N, Gregersen PK, Hakonarson H, Jones
            MR, Marder K, McGovern DP, Mulle J, Orr-Urtreger A, Proctor DD,
            Pulver A, Rotter JI, Silverberg MS, Ullman T, Warren ST, Waterman
            M, Zhang W, Bergman A, Mayer L, Katz S, Desnick RJ, Cho JH and
            Peter I.
  TITLE     A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests
            novel susceptibility loci
  JOURNAL   PLoS Genet 8 (3), e1002559 (2012)
   PUBMED   22412388
REFERENCE   5  (residues 1 to 1159)
  AUTHORS   Xu J, Kibel AS, Hu JJ, Turner AR, Pruett K, Zheng SL, Sun J, Isaacs
            SD, Wiley KE, Kim ST, Hsu FC, Wu W, Torti FM, Walsh PC, Chang BL
            and Isaacs WB.
  TITLE     Prostate cancer risk associated loci in African Americans
  JOURNAL   Cancer Epidemiol Biomarkers Prev 18 (7), 2145-2149 (2009)
   PUBMED   19549807
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 1159)
  AUTHORS   Wiklund FE, Adami HO, Zheng SL, Stattin P, Isaacs WB, Gronberg H
            and Xu J.
  TITLE     Established prostate cancer susceptibility variants are not
            associated with disease outcome
  JOURNAL   Cancer Epidemiol Biomarkers Prev 18 (5), 1659-1662 (2009)
   PUBMED   19423541
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 1159)
  AUTHORS   Waters KM, Le Marchand L, Kolonel LN, Monroe KR, Stram DO,
            Henderson BE and Haiman CA.
  TITLE     Generalizability of associations from prostate cancer genome-wide
            association studies in multiple populations
  JOURNAL   Cancer Epidemiol Biomarkers Prev 18 (4), 1285-1289 (2009)
   PUBMED   19318432
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 1159)
  AUTHORS   Gudmundsson J, Sulem P, Rafnar T, Bergthorsson JT, Manolescu A,
            Gudbjartsson D, Agnarsson BA, Sigurdsson A, Benediktsdottir KR,
            Blondal T, Jakobsdottir M, Stacey SN, Kostic J, Kristinsson KT,
            Birgisdottir B, Ghosh S, Magnusdottir DN, Thorlacius S,
            Thorleifsson G, Zheng SL, Sun J, Chang BL, Elmore JB, Breyer JP,
            McReynolds KM, Bradley KM, Yaspan BL, Wiklund F, Stattin P,
            Lindstrom S, Adami HO, McDonnell SK, Schaid DJ, Cunningham JM, Wang
            L, Cerhan JR, St Sauver JL, Isaacs SD, Wiley KE, Partin AW, Walsh
            PC, Polo S, Ruiz-Echarri M, Navarrete S, Fuertes F, Saez B, Godino
            J, Weijerman PC, Swinkels DW, Aben KK, Witjes JA, Suarez BK,
            Helfand BT, Frigge ML, Kristjansson K, Ober C, Jonsson E, Einarsson
            GV, Xu J, Gronberg H, Smith JR, Thibodeau SN, Isaacs WB, Catalona
            WJ, Mayordomo JI, Kiemeney LA, Barkardottir RB, Gulcher JR,
            Thorsteinsdottir U, Kong A and Stefansson K.
  TITLE     Common sequence variants on 2p15 and Xp11.22 confer susceptibility
            to prostate cancer
  JOURNAL   Nat Genet 40 (3), 281-283 (2008)
   PUBMED   18264098
REFERENCE   9  (residues 1 to 1159)
  AUTHORS   Guilherme A, Soriano NA, Furcinitti PS and Czech MP.
  TITLE     Role of EHD1 and EHBP1 in perinuclear sorting and insulin-regulated
            GLUT4 recycling in 3T3-L1 adipocytes
  JOURNAL   J Biol Chem 279 (38), 40062-40075 (2004)
   PUBMED   15247266
REFERENCE   10 (residues 1 to 1159)
  AUTHORS   Guilherme A, Soriano NA, Bose S, Holik J, Bose A, Pomerleau DP,
            Furcinitti P, Leszyk J, Corvera S and Czech MP.
  TITLE     EHD2 and the novel EH domain binding protein EHBP1 couple
            endocytosis to the actin cytoskeleton
  JOURNAL   J Biol Chem 279 (11), 10593-10605 (2004)
   PUBMED   14676205
  REMARK    GeneRIF: EHBP1 is an EH domain binding protein that, along with
            EHD2, has a role in coupling endocytosis to the actin cytoskeleton
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092567.4, HY174910.1,
            CA394214.1, BC067215.1 and DA555784.1.
            On Aug 10, 2017 this sequence version replaced XP_016859141.1.
            
            Summary: This gene encodes an Eps15 homology domain binding
            protein. The encoded protein may play a role in endocytic
            trafficking. A single nucleotide polymorphism in this gene is
            associated with an aggressive form of prostate cancer. Alternate
            splicing results in multiple transcript variants. [provided by
            RefSeq, Feb 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.1525199.1,
                                           SRR14038197.1695839.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1159
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p15"
     Protein         1..1159
                     /product="EH domain-binding protein 1 isoform 6"
                     /note="NPF calponin-like protein; testis tissue
                     sperm-binding protein Li 50e"
                     /calculated_mol_wt=132064
     Region          12..165
                     /region_name="NT-C2"
                     /note="N-terminal C2 in EEIG1 and EHBP1 proteins;
                     pfam10358"
                     /db_xref="CDD:431230"
     Region          409..515
                     /region_name="CH_EHBP1"
                     /note="calponin homology (CH) domain found in EH
                     domain-binding protein 1 and similar proteins; cd21254"
                     /db_xref="CDD:409103"
     Site            order(410,414,464,466..467,470..471,473,481..489,497,
                     499..500,502..503,506..507,510)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409103"
     Region          1002..1138
                     /region_name="DUF3585"
                     /note="Protein of unknown function (DUF3585); pfam12130"
                     /db_xref="CDD:432351"
     CDS             1..1159
                     /gene="EHBP1"
                     /gene_synonym="HPC12; NACSIN"
                     /coded_by="NM_001354219.2:636..4115"
                     /note="isoform 6 is encoded by transcript variant 12"
                     /db_xref="GeneID:23301"
                     /db_xref="HGNC:HGNC:29144"
                     /db_xref="MIM:609922"
ORIGIN      
        1 masvwkrlqr vgkhaskfqf vasyqelmve ctkkwqpdkl vvvwtrrsrr ksskahswqp
       61 giknpyrgvv vwpvpeniei tvtlfkdpha eefedkewtf vienespsgr rkalatssin
      121 mkqyaspmpt qtdvklkfkp lskkvvsaal qfslsciflr egkatdedmq slaslmsmkq
      181 adignlddfe ednedddenr vnqeekaaki telinklnfl deaekdlatv nsnpfddpda
      241 aelnpfgdpd seepitetas prktedsfyn nsynpfkevq tpqylnpfde peafvtikds
      301 ppqstkrkni rpvdmskyly adsskteeee ldesnpfyep kstpppnnlv npvqeleter
      361 rvkrkapapp vlspktgvln entvsagkdl stspkpspip spvlgrkpna sqsllvwcke
      421 vtknyrgvki tnfttswrng lsfcailhhf rpdlidyksl npqdikennk kaydgfasig
      481 isrllepsdm vllaipdklt vmtylyqira hfsgqelnvv qieensskst ykvgnyetdt
      541 nssvdqekfy aelsdlkrep elqqpisgav dflsqddsvf vndsgvgese sehqtpddhl
      601 spstaspycr rtksdtepqk sqqssgrtsg sddpgicsnt dstqaqvllg kkrllkaetl
      661 elsdlyvsdk kkdmsppfic eetdeqklqt ldigsnleke klensrslec rsdpespikk
      721 tslsptsklg ysysrdldla kkkhaslrqt esdpdadrtt lnhadhsski vqhrllsrqe
      781 elkerarvll eqarrdaalk agnkhntnta tpfcnrqlsd qdeerrrqlr erarqliaea
      841 rsgvkmselp sygemaaekl kerskasgeq nsklvdlklk kllevqpqva nspssaaqka
      901 vtesseqdmk sgtedlrter lqktterfrn pvvfskdstv rktqlqsfsq yienrpemkr
      961 qrsiqedtkk gneekaaite tqrkpsedev lnkgfkdtsq yvvgelaale neqkqidtra
     1021 alvekrlryl mdtgrnteee eammqewfml vnkknalirr mnqlslleke hdlerryell
     1081 nrelramlai edwqkteaqk rreqllldel valvnkrdal vrdldaqekq aeeedehler
     1141 tleqnkgkma kkeekcvlq
//
LOCUS       NP_113619                828 aa            linear   PRI 18-DEC-2022
DEFINITION  conserved oligomeric Golgi complex subunit 3 [Homo sapiens].
ACCESSION   NP_113619
VERSION     NP_113619.3
DBSOURCE    REFSEQ: accession NM_031431.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 828)
  AUTHORS   Bailey Blackburn J, Pokrovskaya I, Fisher P, Ungar D and Lupashin
            VV.
  TITLE     COG Complex Complexities: Detailed Characterization of a Complete
            Set of HEK293T Cells Lacking Individual COG Subunits
  JOURNAL   Front Cell Dev Biol 4, 23 (2016)
   PUBMED   27066481
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 828)
  AUTHORS   Ong YS, Tran TH, Gounko NV and Hong W.
  TITLE     TMEM115 is an integral membrane protein of the Golgi complex
            involved in retrograde transport
  JOURNAL   J Cell Sci 127 (Pt 13), 2825-2839 (2014)
   PUBMED   24806965
REFERENCE   3  (residues 1 to 828)
  AUTHORS   Starr T, Sun Y, Wilkins N and Storrie B.
  TITLE     Rab33b and Rab6 are functionally overlapping regulators of Golgi
            homeostasis and trafficking
  JOURNAL   Traffic 11 (5), 626-636 (2010)
   PUBMED   20163571
REFERENCE   4  (residues 1 to 828)
  AUTHORS   Laufman O, Kedan A, Hong W and Lev S.
  TITLE     Direct interaction between the COG complex and the SM protein,
            Sly1, is required for Golgi SNARE pairing
  JOURNAL   EMBO J 28 (14), 2006-2017 (2009)
   PUBMED   19536132
REFERENCE   5  (residues 1 to 828)
  AUTHORS   Shestakova A, Zolov S and Lupashin V.
  TITLE     COG complex-mediated recycling of Golgi glycosyltransferases is
            essential for normal protein glycosylation
  JOURNAL   Traffic 7 (2), 191-204 (2006)
   PUBMED   16420527
REFERENCE   6  (residues 1 to 828)
  AUTHORS   Loh E and Hong W.
  TITLE     Sec34 is implicated in traffic from the endoplasmic reticulum to
            the Golgi and exists in a complex with GTC-90 and ldlBp
  JOURNAL   J Biol Chem 277 (24), 21955-21961 (2002)
   PUBMED   11929878
  REMARK    GeneRIF: Sec34 is implicated in traffic from the endoplasmic
            reticulum to the Golgi and exists in a complex with GTC-90 and
            ldlBp
REFERENCE   7  (residues 1 to 828)
  AUTHORS   Ungar D, Oka T, Brittle EE, Vasile E, Lupashin VV, Chatterton JE,
            Heuser JE, Krieger M and Waters MG.
  TITLE     Characterization of a mammalian Golgi-localized protein complex,
            COG, that is required for normal Golgi morphology and function
  JOURNAL   J Cell Biol 157 (3), 405-415 (2002)
   PUBMED   11980916
REFERENCE   8  (residues 1 to 828)
  AUTHORS   Suvorova ES, Kurten RC and Lupashin VV.
  TITLE     Identification of a human orthologue of Sec34p as a component of
            the cis-Golgi vesicle tethering machinery
  JOURNAL   J Biol Chem 276 (25), 22810-22818 (2001)
   PUBMED   11292827
REFERENCE   9  (residues 1 to 828)
  AUTHORS   VanRheenen SM, Cao X, Sapperstein SK, Chiang EC, Lupashin VV,
            Barlowe C and Waters MG.
  TITLE     Sec34p, a protein required for vesicle tethering to the yeast Golgi
            apparatus, is in a complex with Sec35p
  JOURNAL   J Cell Biol 147 (4), 729-742 (1999)
   PUBMED   10562277
REFERENCE   10 (residues 1 to 828)
  AUTHORS   Kim DW, Sacher M, Scarpa A, Quinn AM and Ferro-Novick S.
  TITLE     High-copy suppressor analysis reveals a physical interaction
            between Sec34p and Sec35p, a protein implicated in vesicle docking
  JOURNAL   Mol Biol Cell 10 (10), 3317-3329 (1999)
   PUBMED   10512869
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL606514.4 and AL139326.15.
            On Nov 23, 2018 this sequence version replaced NP_113619.2.
            
            Summary: This gene encodes a component of the conserved oligomeric
            Golgi (COG) complex which is composed of eight different subunits
            and is required for normal Golgi morphology and localization.
            Defects in the COG complex result in multiple deficiencies in
            protein glycosylation. The protein encoded by this gene is involved
            in ER-Golgi transport.[provided by RefSeq, Jun 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.33184.1, AF349676.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000349995.10/ ENSP00000258654.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..828
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.13"
     Protein         1..828
                     /product="conserved oligomeric Golgi complex subunit 3"
                     /note="tethering factor SEC34; p94; COG complex subunit 3;
                     vesicle-docking protein SEC34 homolog"
                     /calculated_mol_wt=93965
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000269|PubMed:12665801,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (Q96JB2.3)"
     Region          131..274
                     /region_name="Sec34"
                     /note="Sec34-like family; pfam04136"
                     /db_xref="CDD:427736"
     Region          504..543
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96JB2.3)"
     Site            663
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96JB2.3)"
     CDS             1..828
                     /gene="COG3"
                     /gene_synonym="SEC34"
                     /coded_by="NM_031431.4:99..2585"
                     /db_xref="CCDS:CCDS9398.1"
                     /db_xref="GeneID:83548"
                     /db_xref="HGNC:HGNC:18619"
                     /db_xref="MIM:606975"
ORIGIN      
        1 maeaallllp eaaaerdare klalwdrrpd ttapltdrqt dsvlelkaaa enlpvpaelp
       61 iedlcsltsq slpieltsvv pestedillk gftslgmeee rietaqqffs wfaklqtqmd
      121 qdegtkyrqm rdylsgfqeq cdailndvns alqhleslqk qylfvsnktg tlheaceqll
      181 keqselvdla eniqqklsyf neletintkl nsptlsvnsd gfipmlakld dcityisshp
      241 nfkdypiyll kfkqclskal hlmktytvnt lqtltsqllk rdpssvpnad naftlfyvkf
      301 raaapkvrtl ieqielrsek ipeyqqllnd ihqcyldqre lllgpsiact vaeltsqnnr
      361 dhcalvrsgc afmvhvcqde hqlynefftk ptskldelle klcvslydvf rpliihvihl
      421 etlselcgil knevledhvq nnaeqlgafa agvkqmledv qerlvyrthi yiqtditgyk
      481 papgdlaypd klvmmeqiaq slkdeqkkvp seasfsdvhl eegesnsltk sgsteslnpr
      541 pqttispadl hgmwyptvrr tlvclsklyr cidravfqgl sqealsaciq sllgasesis
      601 knktqidgql flikhllilr eqiapfhtef tikeisldlk ktrdaafkil npmtvprffr
      661 lnsnnalief llegtpeire hyldskkdvd rhlksaceqf iqqqtklfve qleefmtkvs
      721 alktmasqgg pkytlsqqpw aqpakvndla atayktiktk lpvtlrsmsl ylsnkdtefi
      781 lfkpvrnniq qvfqkfhall keefspediq iiacpsmeql sllllvsk
//
LOCUS       NP_001306964             486 aa            linear   PRI 22-DEC-2022
DEFINITION  protein Aster-A isoform 4 [Homo sapiens].
ACCESSION   NP_001306964 XP_005259163
VERSION     NP_001306964.1
DBSOURCE    REFSEQ: accession NM_001320035.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 486)
  AUTHORS   Liu Y, Fu S, Zhang Z, Wang S, Cheng X, Li Z, Ding Y, Sun T and Ma
            M.
  TITLE     GRAMD1A Is a Biomarker of Kidney Renal Clear Cell Carcinoma and Is
            Associated with Immune Infiltration in the Tumour Microenvironment
  JOURNAL   Dis Markers 2022, 5939021 (2022)
   PUBMED   35860689
  REMARK    GeneRIF: GRAMD1A Is a Biomarker of Kidney Renal Clear Cell
            Carcinoma and Is Associated with Immune Infiltration in the Tumour
            Microenvironment.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 486)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 486)
  AUTHORS   Besprozvannaya M, Dickson E, Li H, Ginburg KS, Bers DM, Auwerx J
            and Nunnari J.
  TITLE     GRAM domain proteins specialize functionally distinct ER-PM contact
            sites in human cells
  JOURNAL   Elife 7, e31019 (2018)
   PUBMED   29469807
  REMARK    GeneRIF: GRAMD2a, but not GRAMD1a, co-localizes with the E-Syt2/3
            tethers at endoplasmic reticulum-plasma membrane contact sites in a
            phosphatidylinositol phosphate lipid-dependent manner. Data from an
            analysis of cells lacking GRAMD2a suggest that it is an organizer
            of the membrane contact sites with pleiotropic functions including
            calcium homeostasis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 486)
  AUTHORS   Fu B, Meng W, Zhao H, Zhang B, Tang H, Zou Y, Yao J, Li H and Zhang
            T.
  TITLE     GRAM domain-containing protein 1A (GRAMD1A) promotes the expansion
            of hepatocellular carcinoma stem cell and hepatocellular carcinoma
            growth through STAT5
  JOURNAL   Sci Rep 6, 31963 (2016)
   PUBMED   27585821
  REMARK    GeneRIF: STAT5 was the target of GRAMD1A; GRAMD1A regulated the
            target genes of STAT5 and the transcriptional activity of STAT5.
            Inhibition of STAT5 in indicated HCC cells overexpressing GRAMD1A
            suppressed the effects of GRAMD1A on the self-renewal of HCC stem
            cell, resistance to chemotherapy and tumor growth, suggesting
            GRAMD1A promoted the self-renewal of HCC stem cells and the
            development of HCC by increasing STAT5 level.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA390646.1, AK074864.1, BC014077.2 and CD367242.1.
            On Feb 10, 2016 this sequence version replaced XP_005259163.1.
            
            Transcript Variant: This variant (4) lacks an alternate internal
            exon compared to variant 1. This variant represents translation
            initiation at an alternate start codon compared to variant 1; the
            5'-most initiation codon, as used in variant 1, is associated with
            a truncated ORF that would render the transcript a candidate for
            nonsense-mediated decay (NMD). Leaky scanning may allow translation
            initiation at the alternate start codon to encode an isoform (4)
            that has a shorter and distinct N-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074864.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..486
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     Protein         1..486
                     /product="protein Aster-A isoform 4"
                     /note="GRAM domain-containing protein 1A; protein Aster-A"
                     /calculated_mol_wt=53433
     Region          136..284
                     /region_name="DUF4782"
                     /note="Domain of unknown function (DUF4782); pfam16016"
                     /db_xref="CDD:435072"
     CDS             1..486
                     /gene="GRAMD1A"
                     /gene_synonym="KIAA1533"
                     /coded_by="NM_001320035.2:746..2206"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:57655"
                     /db_xref="HGNC:HGNC:29305"
                     /db_xref="MIM:620178"
ORIGIN      
        1 mhclkrtpke vgdvialsdi tssgaadrsq epspvgsrrg hvtpnlsras sdadhgaeed
       61 keeqvdsqpd asssqtvtpv aeppsteptq pdgpttlgpl dllpseellt dtsnsssstg
      121 eeadlaallp dlsgrllins vfhvgaerlq qmlfsdspfl qgflqqckft dvtlspwsgd
      181 skchqrrvlt ytipisnplg pksasvvetq tlfrrgpqag gcvvdsevlt qgipyqdyfy
      241 tahrycilgl arnkarlrvs seiryrkqpw slvksliekn swsgiedyfh hlerelakae
      301 klsleeggkd argllsglrr rkrplswrah gdgpqhpdpd pcaragihts gslssrfsep
      361 svdqgpgagi psalvlisiv liilialnvl lfyrlwsler tahtfeswhs lalakgkfpq
      421 tatewaeila lqkqfhsvev hkwrqilras velldemkfs leklhqgitv sdppfdtqpr
      481 pddsfs
//
LOCUS       NP_001186210            2220 aa            linear   PRI 24-DEC-2022
DEFINITION  calcineurin-binding protein cabin-1 isoform a [Homo sapiens].
ACCESSION   NP_001186210
VERSION     NP_001186210.1
DBSOURCE    REFSEQ: accession NM_001199281.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2220)
  AUTHORS   Ray-Gallet D, Ricketts MD, Sato Y, Gupta K, Boyarchuk E, Senda T,
            Marmorstein R and Almouzni G.
  TITLE     Functional activity of the H3.3 histone chaperone complex HIRA
            requires trimerization of the HIRA subunit
  JOURNAL   Nat Commun 9 (1), 3103 (2018)
   PUBMED   30082790
  REMARK    GeneRIF: analysis of the trimeric HIRA, UBN1 and CABIN1 H3.3
            histone chaperone complex
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 2220)
  AUTHORS   Ricketts MD and Marmorstein R.
  TITLE     A Molecular Prospective for HIRA Complex Assembly and H3.3-Specific
            Histone Chaperone Function
  JOURNAL   J Mol Biol 429 (13), 1924-1933 (2017)
   PUBMED   27871933
  REMARK    Review article
REFERENCE   3  (residues 1 to 2220)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (residues 1 to 2220)
  AUTHORS   Navarini AA, Simpson MA, Weale M, Knight J, Carlavan I, Reiniche P,
            Burden DA, Layton A, Bataille V, Allen M, Pleass R, Pink A, Creamer
            D, English J, Munn S, Walton S, Willis C, Deret S, Voegel JJ,
            Spector T, Smith CH, Trembath RC and Barker JN.
  CONSRTM   Acne Genetic Study Group
  TITLE     Genome-wide association study identifies three novel susceptibility
            loci for severe Acne vulgaris
  JOURNAL   Nat Commun 5, 4020 (2014)
   PUBMED   24927181
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 2220)
  AUTHORS   Chang PY, Wu ZZ, Sun NK and Chao CC.
  TITLE     EBV-encoded LMP-1 sensitizes nasopharyngeal carcinoma cells to
            genotoxic drugs by down-regulating Cabin1 expression
  JOURNAL   J Cell Physiol 229 (3), 309-322 (2014)
   PUBMED   23939952
  REMARK    GeneRIF: Results indicate an important role for LMP1 and Cabin1 in
            regulating apoptosis in nasopharyngeal carcinoma cells in response
            to genotoxic stress.
REFERENCE   6  (residues 1 to 2220)
  AUTHORS   Youn HD, Grozinger CM and Liu JO.
  TITLE     Calcium regulates transcriptional repression of myocyte enhancer
            factor 2 by histone deacetylase 4
  JOURNAL   J Biol Chem 275 (29), 22563-22567 (2000)
   PUBMED   10825153
REFERENCE   7  (residues 1 to 2220)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   8  (residues 1 to 2220)
  AUTHORS   Youn HD, Sun L, Prywes R and Liu JO.
  TITLE     Apoptosis of T cells mediated by Ca2+-induced release of the
            transcription factor MEF2
  JOURNAL   Science 286 (5440), 790-793 (1999)
   PUBMED   10531067
REFERENCE   9  (residues 1 to 2220)
  AUTHORS   Sun L, Youn HD, Loh C, Stolow M, He W and Liu JO.
  TITLE     Cabin 1, a negative regulator for calcineurin signaling in T
            lymphocytes
  JOURNAL   Immunity 8 (6), 703-711 (1998)
   PUBMED   9655484
REFERENCE   10 (residues 1 to 2220)
  AUTHORS   Laherty CD, Yang WM, Sun JM, Davie JR, Seto E and Eisenman RN.
  TITLE     Histone deacetylases associated with the mSin3 corepressor mediate
            mad transcriptional repression
  JOURNAL   Cell 89 (3), 349-356 (1997)
   PUBMED   9150134
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL703593.1 and AB002328.2.
            
            Summary: Calcineurin plays an important role in the T-cell
            receptor-mediated signal transduction pathway. The protein encoded
            by this gene binds specifically to the activated form of
            calcineurin and inhibits calcineurin-mediated signal transduction.
            The encoded protein is found in the nucleus and contains a leucine
            zipper domain as well as several PEST motifs, sequences which
            confer targeted degradation to those proteins which contain them.
            Alternative splicing results in multiple transcript variants
            encoding two different isoforms. [provided by RefSeq, Jan 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Both variants 1 and
            2 encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB002328.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2220
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     Protein         1..2220
                     /product="calcineurin-binding protein cabin-1 isoform a"
                     /note="calcineurin binding protein cabin 1; calcineurin
                     inhibitor"
                     /calculated_mol_wt=246222
     Site            10
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Site            11
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Site            12
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Site            20
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Region          <34..210
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          36..69
                     /region_name="TPR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Region          36..64
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            66
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Region          90..123
                     /region_name="TPR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Region          90..118
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(91,94..95,98..99,101,125,128..129,132..133,135..136,
                     159,162..163,166..167,170)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          123..153
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          125..157
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Region          158..186
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          361..400
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Site            433
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Site            450
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Region          615..648
                     /region_name="TPR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Site            673
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Region          1055..1088
                     /region_name="TPR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Site            order(1056,1059..1060,1063..1064,1066,1090,1093..1094,
                     1097..1098,1100,1106,1141,1144..1145,1148..1149,1152)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          1056..1083
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1088..1135
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1106..1139
                     /region_name="TPR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Region          1299..1476
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Site            1439
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Region          1668..1845
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Region          <1914..2157
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1916..2165
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Site            1924
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Site            2094
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Region          2116..2153
                     /region_name="Required for interaction with calcineurin.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Site            2151
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Site            2154
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     Region          2156..2190
                     /region_name="MEF2_binding"
                     /note="MEF2 binding; pfam09047"
                     /db_xref="CDD:370261"
     Region          2197..2220
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6J0.1)"
     CDS             1..2220
                     /gene="CABIN1"
                     /gene_synonym="CAIN; KB-318B8.7; PPP3IN"
                     /coded_by="NM_001199281.1:434..7096"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13823.1"
                     /db_xref="GeneID:23523"
                     /db_xref="HGNC:HGNC:24187"
                     /db_xref="MIM:604251"
ORIGIN      
        1 miriaalnas stieddhegs fkshktqtke aqeaeafaly hkaldlqkhd rfeesakayh
       61 elleasllre avssgdekeg lkhpglilky styknlaqla aqredletam efyleavmld
      121 stdvnlwyki ghvalrliri plarhafeeg lrcnpdhwpc ldnlitvlyt lsdyttclyf
      181 ickalekdcr yskglvlkek ifeeqpclrk dslrmflkcd msihdvsvsa aetqaivdea
      241 lglrkkrqal ivrekepdlk lvqpipfftw kclgesllam ynhlttcepp rpslgkridl
      301 sdyqdpsqpl essmvvtpvn viqpstvstn pavavaepvv sytsvattsf plhspgllet
      361 gapvgdisgg dkskkgvkrk kiseesgeta krrsarvrnt kckkeekvdf qellmkflps
      421 rlrkldpeee ddsfnnyevq seaklesfps igpqrlsfds atfmesekqd vhefllenlt
      481 nggilelmmr ylkamghkfl vrwppglaev vlsvyhswrr hstslpnpll rdcsnkhikd
      541 mmlmslscme lqldqwlltk grssavsprn cpagmvngrf gpdfpgthcl gdllqlsfas
      601 sqrdlfedgw lefvvrvywl karflalqgd meqalenydi ctemlqssta iqveagaerr
      661 divirlpnlh ndsvvsleei dknlkslerc qsleeiqrly eagdykavvh llrptlctsg
      721 fdrakhlefm tsiperpaql lllqdsllrl kdyrqcfecs dvalneavqq mvnsgeaaak
      781 eewvatvtql lmgieqalsa dssgsilkvs ssttglvrlt nnliqvidcs mavqeeakep
      841 hvssvlpwii lhriiwqeed tfhslchqqq lqnpaeegms etpmlpsslm llntaheylg
      901 rrswccnsdg allrfyvrvl qkelaastse dthpykeele taleqcfycl ysfpskkska
      961 ryleehsaqq vdliwedalf mfeyfkpktl pefdsyktst vsadlanllk riativprte
     1021 rpalsldkvs ayiegtstev pclpegadps ppvvnelyyl ladyhfknke qskaikfymh
     1081 dicicpnrfd swagmalara sriqdklnsn elksdgpiwk hatpvlncfr raleidssnl
     1141 slwieygtms yalhsfasrq lkqwrgelpp elvqqmegrr dsmletakhc ftsaarcegd
     1201 gdeeewlihy mlgkvaekqq qpptvyllhy rqaghylhee aarypkkihy hnppelamea
     1261 levyfrlhas ilkllgkpds gvgaevlvnf mkeaaegpfa rgeekntpka sekekaclvd
     1321 edshssagtl pgpgaslpss sgpgltsppy tatpidhdyv kckkphqqat pddrsqdsta
     1381 valsdssstq dffneptsll egsrksytek rlpilssqag atgkdlqgat eergkneesl
     1441 estegfraae qgvqkpaaet pasacipgkp sastptlwdg kkrgdlpgep vafpqglpag
     1501 aeeqrqflte qciasfrlcl srfpqhyksl yrlaflytys kthrnlqwar dvllgssipw
     1561 qqlqhmpaqg lfcernktnf fngiwripvd eidrpgsfaw hmnrsivlll kvlaqlrdhs
     1621 tllkvssmlq rtpdqgkkyl rdadrqvlaq rafiltvkvl edtlselaeg serpgpkvcg
     1681 lpgarmttdv shkaspedgq eglpqpkkpp ladgsgpgpe pggkvgllnh rpvamdagds
     1741 adqsgerkdk espragptep mdtseatvch sdlertppll pgrpardrgp esrptelsle
     1801 elsisarqqp tpltpaqpap apapatttgt ragghpeepl srlsrkrkll edtesgktll
     1861 ldayrvwqqg qkgvaydlgr verimsetym likqvdeeaa leqavkfcqv hlgaaaqrqa
     1921 sgdtpttpkh pkdsrenffp vtvvptapdp vpadsvqrps dahtkprpal aaattiitcp
     1981 psasastldq skdpgpprph rpeatpsmas lgpegeelar vaegtsfppq eprhspqvkm
     2041 aptsspaeph cwpaeaalgt gaeptcsqeg klrpeprrdg eaqeaasetq plsspptaas
     2101 skapssgsaq ppeghpgkpe psraksrplp nmpklvipsa atkfppeitv tpptptllsp
     2161 kgsiseetkq klksailsaq saanvrkesl cqpalevlet ssqesslese tdedddymdi
//
LOCUS       NP_001017520             508 aa            linear   PRI 25-DEC-2022
DEFINITION  DNA nucleotidylexotransferase isoform 2 [Homo sapiens].
ACCESSION   NP_001017520
VERSION     NP_001017520.1
DBSOURCE    REFSEQ: accession NM_001017520.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 508)
  AUTHORS   De Bellis E, Ottone T, Mercante L, Falconi G, Cugini E, Consalvo
            MI, Travaglini S, Paterno G, Piciocchi A, Rossi ELL, Gurnari C,
            Maurillo L, Buccisano F, Arcese W and Voso MT.
  TITLE     Terminal deoxynucleotidyl transferase (TdT) expression is
            associated with FLT3-ITD mutations in Acute Myeloid Leukemia
  JOURNAL   Leuk Res 99, 106462 (2020)
   PUBMED   33091616
  REMARK    GeneRIF: Terminal deoxynucleotidyl transferase (TdT) expression is
            associated with FLT3-ITD mutations in Acute Myeloid Leukemia.
REFERENCE   2  (residues 1 to 508)
  AUTHORS   Saburi M, Ogata M, Satou T, Soga Y, Itani K, Kohno K, Kondo Y and
            Nakayama T.
  TITLE     Prognostic implications of TdT expression in acute myeloid leukemia
            with an intermediate-risk karyotype
  JOURNAL   Int J Hematol 112 (1), 17-23 (2020)
   PUBMED   32253665
  REMARK    GeneRIF: Prognostic implications of TdT expression in acute myeloid
            leukemia with an intermediate-risk karyotype.
REFERENCE   3  (residues 1 to 508)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 508)
  AUTHORS   Borrow J, Dyer SA, Akiki S and Griffiths MJ.
  TITLE     Terminal deoxynucleotidyl transferase promotes acute myeloid
            leukemia by priming FLT3-ITD replication slippage
  JOURNAL   Blood 134 (25), 2281-2290 (2019)
   PUBMED   31650168
  REMARK    GeneRIF: Terminal deoxynucleotidyl transferase promotes acute
            myeloid leukemia by priming FLT3-ITD replication slippage.
REFERENCE   5  (residues 1 to 508)
  AUTHORS   Koiwai O and Morita A.
  TITLE     Isolation of putative promoter region for human terminal
            deoxynucleotidyltransferase gene
  JOURNAL   Biochem Biophys Res Commun 154 (1), 91-100 (1988)
   PUBMED   3395350
REFERENCE   6  (residues 1 to 508)
  AUTHORS   Riley LK, Morrow JK, Danton MJ and Coleman MS.
  TITLE     Human terminal deoxyribonucleotidyltransferase: molecular cloning
            and structural analysis of the gene and 5' flanking region
  JOURNAL   Proc Natl Acad Sci U S A 85 (8), 2489-2493 (1988)
   PUBMED   2833741
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1988 Nov;85(21):7987]
REFERENCE   7  (residues 1 to 508)
  AUTHORS   Koiwai,O., Kaneda,T. and Morishita,R.
  TITLE     Analysis of human terminal deoxynucleotidyl transferase cDNA
            expressible in mammalian cells
  JOURNAL   Biochem Biophys Res Commun 144 (1), 185-190 (1987)
   PUBMED   3579900
REFERENCE   8  (residues 1 to 508)
  AUTHORS   Chang,L.M. and Bollum,F.J.
  TITLE     Molecular biology of terminal transferase
  JOURNAL   CRC Crit Rev Biochem 21 (1), 27-52 (1986)
   PUBMED   3524991
  REMARK    Review article
REFERENCE   9  (residues 1 to 508)
  AUTHORS   Yang-Feng,T.L., Landau,N.R., Baltimore,D. and Francke,U.
  TITLE     The terminal deoxynucleotidyltransferase gene is located on human
            chromosome 10 (10q23----q24) and on mouse chromosome 19
  JOURNAL   Cytogenet Cell Genet 43 (3-4), 121-126 (1986)
   PUBMED   3467897
REFERENCE   10 (residues 1 to 508)
  AUTHORS   Peterson,R.C., Cheung,L.C., Mattaliano,R.J., White,S.T., Chang,L.M.
            and Bollum,F.J.
  TITLE     Expression of human terminal deoxynucleotidyl transferase in
            Escherichia coli
  JOURNAL   J Biol Chem 260 (19), 10495-10502 (1985)
   PUBMED   2863268
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB110609.1, AL136181.13,
            AK130771.1 and BC012920.1.
            
            Summary: This gene is a member of the DNA polymerase type-X family
            and encodes a template-independent DNA polymerase that catalyzes
            the addition of deoxynucleotides to the 3'-hydroxyl terminus of
            oligonucleotide primers. In vivo, the encoded protein is expressed
            in a restricted population of normal and malignant pre-B and pre-T
            lymphocytes during early differentiation, where it generates
            antigen receptor diversity by synthesizing non-germ line elements
            (N-regions) at the junctions of rearranged Ig heavy chain and T
            cell receptor gene segments. Alternatively spliced transcript
            variants encoding different isoforms of this gene have been
            described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1. It
            encodes an isoform (2), which is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR279846.4704.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149004, SAMEA2154529
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..508
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.1"
     Protein         1..508
                     /product="DNA nucleotidylexotransferase isoform 2"
                     /EC_number="2.7.7.31"
                     /note="terminal transferase; terminal addition enzyme;
                     terminal deoxyribonucleotidyltransferase;
                     nucleosidetriphosphate:DNA deoxynucleotidylexotransferase;
                     terminal deoxynucleotidyltransferase"
                     /calculated_mol_wt=58277
     Region          1..24
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P04053.3)"
     Region          11..17
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000250|UniProtKB:P06526"
                     /note="propagated from UniProtKB/Swiss-Prot (P04053.3)"
     Region          31..125
                     /region_name="BRCT_DNTT"
                     /note="BRCT domain of DNA nucleotidylexotransferase (DNTT)
                     and similar proteins; cd18443"
                     /db_xref="CDD:349396"
     Site            134
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P09838; propagated from
                     UniProtKB/Swiss-Prot (P04053.3)"
     Region          163..507
                     /region_name="POLXc"
                     /note="DNA polymerase X family; smart00483"
                     /db_xref="CDD:214688"
     Region          258..262
                     /region_name="Involved in DNA binding.
                     /evidence=ECO:0000250|UniProtKB:P09838"
                     /note="propagated from UniProtKB/Swiss-Prot (P04053.3)"
     CDS             1..508
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /coded_by="NM_001017520.2:65..1591"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS44465.1"
                     /db_xref="GeneID:1791"
                     /db_xref="HGNC:HGNC:2983"
                     /db_xref="MIM:187410"
ORIGIN      
        1 mdpprashls prkkrprqtg almasspqdi kfqdlvvfil ekkmgttrra flmelarrkg
       61 frvenelsds vthivaenns gsdvlewlqa qkvqvssqpe lldvswliec iragkpvemt
      121 gkhqlvvrrd ysdstnpgpp ktppiavqki sqyacqrrtt lnncnqiftd afdilaence
      181 frenedscvt fmraasvlks lpftiismkd tegipclgsk vkgiieeiie dgessevkav
      241 lnderyqsfk lftsvfgvgl ktsekwfrmg frtlskvrsd kslkftrmqk agflyyedlv
      301 scvtraeaea vsvlvkeavw aflpdafvtm tggfrrgkkm ghdvdflits pgstedeeql
      361 lqkvmnlwek kglllyydlv estfeklrlp srkvdaldhf qkcflifklp rqrvdsdqss
      421 wqegktwkai rvdlvlcpye rrafallgwt gsrferdlrr yatherkmil dnhalydktk
      481 riflkaesee eifahlgldy iepwerna
//
LOCUS       NP_004193                 44 aa            linear   PRI 25-DEC-2022
DEFINITION  thymosin beta-4, Y-chromosomal [Homo sapiens].
ACCESSION   NP_004193
VERSION     NP_004193.1
DBSOURCE    REFSEQ: accession NM_004202.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 44)
  AUTHORS   Lu B, Yu Y, Xing XL and Liu RY.
  TITLE     miR-183/TMSB4Y, a new potential signaling axis, involving in the
            progression of laryngeal cancer via modulating cell adhesion
  JOURNAL   J Recept Signal Transduct Res 42 (2), 133-140 (2022)
   PUBMED   33356743
  REMARK    GeneRIF: miR-183/TMSB4Y, a new potential signaling axis, involving
            in the progression of laryngeal cancer via modulating cell
            adhesion.
REFERENCE   2  (residues 1 to 44)
  AUTHORS   Wong HY, Wang GM, Croessmann S, Zabransky DJ, Chu D, Garay JP,
            Cidado J, Cochran RL, Beaver JA, Aggarwal A, Liu ML, Argani P,
            Meeker A, Hurley PJ, Lauring J and Park BH.
  TITLE     TMSB4Y is a candidate tumor suppressor on the Y chromosome and is
            deleted in male breast cancer
  JOURNAL   Oncotarget 6 (42), 44927-44940 (2015)
   PUBMED   26702755
  REMARK    GeneRIF: Suggest Y chromosome gene TMSB4Y may function as a tumor
            suppressor gene in male breast cancer.
REFERENCE   3  (residues 1 to 44)
  AUTHORS   Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
            Safari A, Liu D and Songyang Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   4  (residues 1 to 44)
  AUTHORS   Lee HR, Yoon SY, Kang HB, Park S, Kim KE, Cho YH, Kim S, Kim CW,
            Cho BJ, Lee WJ, Bang SI, Park H and Cho D.
  TITLE     Thymosin beta 4 enhances NK cell cytotoxicity mediated by ICAM-1
  JOURNAL   Immunol Lett 123 (1), 72-76 (2009)
   PUBMED   19369144
  REMARK    GeneRIF: T beta 4 is a key activator of NK cell cytotoxicity.
REFERENCE   5  (residues 1 to 44)
  AUTHORS   Torikai H, Akatsuka Y, Miyazaki M, Warren EH 3rd, Oba T, Tsujimura
            K, Motoyoshi K, Morishima Y, Kodera Y, Kuzushima K and Takahashi T.
  TITLE     A novel HLA-A*3303-restricted minor histocompatibility antigen
            encoded by an unconventional open reading frame of human TMSB4Y
            gene
  JOURNAL   J Immunol 173 (11), 7046-7054 (2004)
   PUBMED   15557202
  REMARK    GeneRIF: TMSB4Y has been found to encode a novel
            HLA-A*3303-restricted minor histocompatibility H-Y antigen,
            revealed during cytotoxicity assays of T cell lines from a
            female-to-male hemopoietic stem cell transplantation patient.
REFERENCE   6  (residues 1 to 44)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   7  (residues 1 to 44)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Functional coherence of the human Y chromosome
  JOURNAL   Science 278 (5338), 675-680 (1997)
   PUBMED   9381176
REFERENCE   8  (residues 1 to 44)
  AUTHORS   Yu FX, Lin SC, Morrison-Bogorad M, Atkinson MA and Yin HL.
  TITLE     Thymosin beta 10 and thymosin beta 4 are both actin monomer
            sequestering proteins
  JOURNAL   J Biol Chem 268 (1), 502-509 (1993)
   PUBMED   8416954
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC119763.1 and BC022482.1.
            
            Summary: This gene lies within the male specific region of
            chromosome Y. Its homolog on chromosome X escapes X inactivation
            and encodes an actin sequestering protein. [provided by RefSeq, Jul
            2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1073402.1,
                                           SRR3476690.971176.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000284856.4/ ENSP00000284856.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..44
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.221"
     Protein         1..44
                     /product="thymosin beta-4, Y-chromosomal"
                     /note="thymosin, beta 4, Y chromosome"
                     /calculated_mol_wt=4881
     Region          1..44
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14604.3)"
     Region          3..41
                     /region_name="Thymosin"
                     /note="Thymosin beta-4 family; pfam01290"
                     /db_xref="CDD:396038"
     CDS             1..44
                     /gene="TMSB4Y"
                     /gene_synonym="TB4Y"
                     /coded_by="NM_004202.3:438..572"
                     /db_xref="CCDS:CCDS14786.1"
                     /db_xref="GeneID:9087"
                     /db_xref="HGNC:HGNC:11882"
                     /db_xref="MIM:400017"
ORIGIN      
        1 msdkpgmaei ekfdksklkk tetqeknpls sketieqerq ages
//
LOCUS       NP_001293117             159 aa            linear   PRI 26-DEC-2022
DEFINITION  motile sperm domain-containing protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001293117 XP_005262503
VERSION     NP_001293117.1
DBSOURCE    REFSEQ: accession NM_001306188.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 159)
  AUTHORS   Cabukusta B, Berlin I, van Elsland DM, Forkink I, Spits M, de Jong
            AWM, Akkermans JJLL, Wijdeven RHM, Janssen GMC, van Veelen PA and
            Neefjes J.
  TITLE     Human VAPome Analysis Reveals MOSPD1 and MOSPD3 as Membrane Contact
            Site Proteins Interacting with FFAT-Related FFNT Motifs
  JOURNAL   Cell Rep 33 (10), 108475 (2020)
   PUBMED   33296653
  REMARK    GeneRIF: Human VAPome Analysis Reveals MOSPD1 and MOSPD3 as
            Membrane Contact Site Proteins Interacting with FFAT-Related FFNT
            Motifs.
REFERENCE   2  (residues 1 to 159)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 159)
  AUTHORS   Hirota Y, Minami T, Sato T, Yokomizo A, Matsumoto A, Goto M, Jinbo
            E and Yamamgata T.
  TITLE     Xq26.1-26.3 duplication including MOSPD1 and GPC3 identified in boy
            with short stature and double outlet right ventricle
  JOURNAL   Am J Med Genet A 173 (9), 2446-2450 (2017)
   PUBMED   28636109
  REMARK    GeneRIF: MOSPD1 is a possible candidate gene for DORV, probably in
            combination with GPC3. Further studies of the combined functions of
            MOSPD1 and GPC3 are needed, and identification of additional
            patients with MOSPD1 and GPC3 duplication should be pursued
REFERENCE   4  (residues 1 to 159)
  AUTHORS   Kara M, Axton RA, Jackson M, Ghaffari S, Buerger K, Watt AJ, Taylor
            AH, Orr B, Hardy WR, Peault B and Forrester LM.
  TITLE     A Role for MOSPD1 in Mesenchymal Stem Cell Proliferation and
            Differentiation
  JOURNAL   Stem Cells 33 (10), 3077-3086 (2015)
   PUBMED   26175344
  REMARK    GeneRIF: Our in vitro studies were supported by RNA-sequencing data
            that confirmed expression of Mospd1 mRNA in cultured, proliferating
            perivascular pre-MSCs isolated from human tissue
REFERENCE   5  (residues 1 to 159)
  AUTHORS   Hasegawa Y, Taylor D, Ovchinnikov DA, Wolvetang EJ, de Torrente L
            and Mar JC.
  TITLE     Variability of Gene Expression Identifies Transcriptional
            Regulators of Early Human Embryonic Development
  JOURNAL   PLoS Genet 11 (8), e1005428 (2015)
   PUBMED   26288249
  REMARK    GeneRIF: Results from a study on gene expression variability
            markers in early-stage human embryos shows that MOSPD1 is a
            putative marker for the 3-day, 8-cell embryo stage.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 159)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D,
            Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL,
            Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles
            ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman
            R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P,
            Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E,
            Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA,
            Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A,
            Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM,
            Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N,
            Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford
            EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J,
            Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E,
            Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke
            G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V,
            Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis
            C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H,
            Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ,
            Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL,
            Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert
            J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock
            R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD,
            Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M,
            Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob
            L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S,
            Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A,
            Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L,
            Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD,
            Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall
            J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G,
            Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N,
            Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R,
            Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM,
            Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S,
            Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C,
            Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC,
            Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor
            PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K,
            Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana
            D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A,
            Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G,
            Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL,
            Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D,
            Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ,
            Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M,
            Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T,
            Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   7  (residues 1 to 159)
  AUTHORS   Pall GS, Wallis J, Axton R, Brownstein DG, Gautier P, Buerger K,
            Mulford C, Mullins JJ and Forrester LM.
  TITLE     A novel transmembrane MSP-containing protein that plays a role in
            right ventricle development
  JOURNAL   Genomics 84 (6), 1051-1059 (2004)
   PUBMED   15533722
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CN428237.1, CB997365.1 and BC005700.1.
            On Apr 16, 2015 this sequence version replaced XP_005262503.1.
            
            Transcript Variant: This variant (2) lacks a 3' coding exon but
            maintains the reading frame, compared to variant 1. The encoded
            isoform (2) is shorter, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.860091.1,
                                           DRR138512.142333.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..159
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     Protein         1..159
                     /product="motile sperm domain-containing protein 1 isoform
                     2"
                     /note="motile sperm domain-containing protein 1"
                     /calculated_mol_wt=18263
     Region          16..115
                     /region_name="Motile_Sperm"
                     /note="MSP (Major sperm protein) domain; pfam00635"
                     /db_xref="CDD:395510"
     CDS             1..159
                     /gene="MOSPD1"
                     /gene_synonym="DJ473B4"
                     /coded_by="NM_001306188.2:178..657"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS78507.1"
                     /db_xref="GeneID:56180"
                     /db_xref="HGNC:HGNC:25235"
                     /db_xref="MIM:300674"
ORIGIN      
        1 mhqqkrqpel vegnlpvfvf ptelifyadd qsthkqvltl ynpyefalkf kvlcttpnky
       61 vvvdaagavk pqccvdivir hrdvrschyg vidkfrlqvs eqsqrkalgr kevvatllps
      121 akeqqkeeee krlkehltes lffeqsfqpg litmailrt
//
LOCUS       NP_001316652             202 aa            linear   PRI 27-DEC-2022
DEFINITION  transmembrane protein 54 isoform 3 [Homo sapiens].
ACCESSION   NP_001316652
VERSION     NP_001316652.1
DBSOURCE    REFSEQ: accession NM_001329723.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 202)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 202)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 202)
  AUTHORS   Baba T, Koizumi M, Suzuki T, Yamanaka I, Yamashita S and Kudo R.
  TITLE     Specific detection of circulating tumor cells by reverse
            transcriptase-polymerase chain reaction of a beta-casein-like
            protein, preferentially expressed in malignant neoplasms
  JOURNAL   Anticancer Res 21 (4A), 2547-2551 (2001)
   PUBMED   11724320
REFERENCE   4  (residues 1 to 202)
  AUTHORS   Baba T, Koizumi M, Suzuki T, Yamanaka I, Yamashita S and Kudo R.
  TITLE     Cloning and characterization of a tumor-associated antigen,
            beta-casein-like protein
  JOURNAL   Biochem Biophys Res Commun 284 (2), 340-345 (2001)
   PUBMED   11394883
REFERENCE   5  (residues 1 to 202)
  AUTHORS   Suzuki T, Koizumi M, Baba T and Kudo R.
  TITLE     Cloning and characterization of a cDNA fragment coding
            beta-casein-like protein preferentially expressed in cervical
            adenocarcinoma cell line CAC-1
  JOURNAL   Cancer Lett 124 (2), 165-171 (1998)
   PUBMED   9500206
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CN401565.1, BG703627.1, AY359883.1, AC114493.3 and BC001418.3.
            
            Transcript Variant: This variant (3) uses an alternate in-frame
            splice junction in the 3' end of the coding sequence and lacks an
            in-frame exon compared to variant 1. The resulting isoform (3) has
            the same N- and C-termini but is shorter compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BG703627.1, AY359883.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..202
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.1"
     Protein         1..202
                     /product="transmembrane protein 54 isoform 3"
                     /note="beta-casein-like protein; protein CAC-1; cervical
                     adenocarcinoma cell line 1 cDNA"
                     /calculated_mol_wt=21588
     Region          18..179
                     /region_name="BCLP"
                     /note="Beta-casein like protein; pfam12304"
                     /db_xref="CDD:432464"
     CDS             1..202
                     /gene="TMEM54"
                     /gene_synonym="BCLP; CAC-1; CAC1"
                     /coded_by="NM_001329723.2:152..760"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:113452"
                     /db_xref="HGNC:HGNC:24143"
ORIGIN      
        1 mclrlgglsv gdfrkvlmkt glvlvvlghv sfitaalfhg tvlryvgtpq davalqycvv
       61 nilsvtsaiv rwtvfsssva callsltcal gllasiamtf atqgkallaa ctfgssella
      121 lapdcpfdpt riyssslclw gialvlcvae nvfavrcaql thqllelrpw wgksshhmmr
      181 enpelvegrd llsctssepl tl
//
LOCUS       NP_722545                326 aa            linear   PRI 27-DEC-2022
DEFINITION  germ cell-specific gene 1 protein isoform 2 [Homo sapiens].
ACCESSION   NP_722545
VERSION     NP_722545.2
DBSOURCE    REFSEQ: accession NM_153823.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 326)
  AUTHORS   Oshikawa M, Tsutsui C, Ikegami T, Fuchida Y, Matsubara M, Toyama S,
            Usami R, Ohtoko K and Kato S.
  TITLE     Full-length transcriptome analysis of human retina-derived cell
            lines ARPE-19 and Y79 using the vector-capping method
  JOURNAL   Invest Ophthalmol Vis Sci 52 (9), 6662-6670 (2011)
   PUBMED   21697133
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC023790.21.
            On Jan 19, 2007 this sequence version replaced NP_722545.1.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            that causes a frameshift in the 3' coding region, compared to
            variant 1. The encoded isoform (2) has a distinct C-terminus and is
            longer than isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK075322.1, AB593020.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..326
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.1"
     Protein         1..326
                     /product="germ cell-specific gene 1 protein isoform 2"
                     /note="germ cell-specific gene 1 protein; testicular
                     secretory protein Li 20"
                     /calculated_mol_wt=36610
     Region          11..124
                     /region_name="GSG-1"
                     /note="GSG1-like protein; pfam07803"
                     /db_xref="CDD:429667"
     CDS             1..326
                     /gene="GSG1"
                     /coded_by="NM_153823.5:69..1049"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS44835.1"
                     /db_xref="GeneID:83445"
                     /db_xref="HGNC:HGNC:19716"
ORIGIN      
        1 makmelskaf sgqrtllsai lsmlslsfst tsllsnywfv gtqkvpkplc ekglaakcfd
       61 mpvsldgdtn tstqevvqyn wetgddrfsf rsfrsgmwls ceetveepge rcrsfieltp
      121 pakreilwls lgtqityigl qfisfllllt dllltgnpac glklsafaav ssvlsgllgm
      181 vahmmysqvf qatvnlgped wrphvwnygw afymawlsft ccmasavttf ntytrmvlef
      241 kckhsksfke npnclphhhq cfprrlssaa ptvgpltsyh qyhnqpihsv segvdfysel
      301 rnkgfqrgas qelkeavrss veeeqc
//
LOCUS       NP_001362896             354 aa            linear   PRI 28-DEC-2022
DEFINITION  cell adhesion molecule 2 isoform 9 precursor [Homo sapiens].
ACCESSION   NP_001362896
VERSION     NP_001362896.1
DBSOURCE    REFSEQ: accession NM_001375967.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 354)
  AUTHORS   Jinyang M, Bojuan L, Lixin X, Wan D and Sun T.
  TITLE     Long Non-Coding RNA HCG11 Inhibits Glioma Cells Proliferation and
            Migration through Decoying miR-590-3p and Up-Regulating CADM2
  JOURNAL   Pathobiology 89 (4), 233-244 (2022)
   PUBMED   35279660
  REMARK    GeneRIF: Long Non-Coding RNA HCG11 Inhibits Glioma Cells
            Proliferation and Migration through Decoying miR-590-3p and
            Up-Regulating CADM2.
REFERENCE   2  (residues 1 to 354)
  AUTHORS   Eijsbouts C, Zheng T, Kennedy NA, Bonfiglio F, Anderson CA,
            Moutsianas L, Holliday J, Shi J, Shringarpure S, Voda AI, Farrugia
            G, Franke A, Hubenthal M, Abecasis G, Zawistowski M, Skogholt AH,
            Ness-Jensen E, Hveem K, Esko T, Teder-Laving M, Zhernakova A,
            Camilleri M, Boeckxstaens G, Whorwell PJ, Spiller R, McVean G,
            D'Amato M, Jostins L and Parkes M.
  CONSRTM   23andMe Research Team; Bellygenes Initiative
  TITLE     Genome-wide analysis of 53,400 people with irritable bowel syndrome
            highlights shared genetic pathways with mood and anxiety disorders
  JOURNAL   Nat Genet 53 (11), 1543-1552 (2021)
   PUBMED   34741163
  REMARK    GeneRIF: Genome-wide analysis of 53,400 people with irritable bowel
            syndrome highlights shared genetic pathways with mood and anxiety
            disorders.
REFERENCE   3  (residues 1 to 354)
  AUTHORS   Arends RM, Pasman JA, Verweij KJH, Derks EM, Gordon SD, Hickie I,
            Thomas NS, Aliev F, Zietsch BP, van der Zee MD, Mitchell BL, Martin
            NG, Dick DM, Gillespie NA, de Geus EJC, Boomsma DI, Schellekens AFA
            and Vink JM.
  TITLE     Associations between the CADM2 gene, substance use, risky sexual
            behavior, and self-control: A phenome-wide association study
  JOURNAL   Addict Biol 26 (6), e13015 (2021)
   PUBMED   33604983
  REMARK    GeneRIF: Associations between the CADM2 gene, substance use, risky
            sexual behavior, and self-control: A phenome-wide association
            study.
REFERENCE   4  (residues 1 to 354)
  AUTHORS   Shirogane Y, Takemoto R, Suzuki T, Kameda T, Nakashima K,
            Hashiguchi T and Yanagi Y.
  TITLE     CADM1 and CADM2 Trigger Neuropathogenic Measles Virus-Mediated
            Membrane Fusion by Acting in cis
  JOURNAL   J Virol 95 (14), e0052821 (2021)
   PUBMED   33910952
  REMARK    GeneRIF: CADM1 and CADM2 Trigger Neuropathogenic Measles
            Virus-Mediated Membrane Fusion by Acting in cis.
REFERENCE   5  (residues 1 to 354)
  AUTHORS   Shen FF, Zhang F, Yang HJ, Li JK, Su JF, Yu PT, Zhou FY and Che GW.
  TITLE     ADAMTS9-AS2 and CADM2 expression and association with the prognosis
            in esophageal squamous cell carcinoma
  JOURNAL   Biomark Med 14 (15), 1415-1426 (2020)
   PUBMED   32892630
  REMARK    GeneRIF: ADAMTS9-AS2 and CADM2 expression and association with the
            prognosis in esophageal squamous cell carcinoma.
REFERENCE   6  (residues 1 to 354)
  AUTHORS   Hiruma A, Ikeda S, Terui T, Ozawa M, Hashimoto T, Yasumoto S,
            Nakayama J, Kubota Y, Iijima M, Sueki H, Matsumoto Y, Kato M,
            Akasaka E, Ikoma N, Mabuchi T, Tamiya S, Matsuyama T, Ozawa A,
            Inoko H and Oka A.
  TITLE     A novel splicing variant of CADM2 as a protective transcript of
            psoriasis
  JOURNAL   Biochem Biophys Res Commun 412 (4), 626-632 (2011)
   PUBMED   21864505
  REMARK    GeneRIF: The results indicated that CADM2 is one of the pathogenic
            factors for psoriasis.
REFERENCE   7  (residues 1 to 354)
  AUTHORS   Chang G, Xu S, Dhir R, Chandran U, O'Keefe DS, Greenberg NM and
            Gingrich JR.
  TITLE     Hypoexpression and epigenetic regulation of candidate tumor
            suppressor gene CADM-2 in human prostate cancer
  JOURNAL   Clin Cancer Res 16 (22), 5390-5401 (2010)
   PUBMED   21062931
  REMARK    GeneRIF: Its expression is regulated in part by promoter
            methylation and implicates CADM-2 as a previously unrecognized
            tumor suppressor gene in a proportion of human prostate cancers.
REFERENCE   8  (residues 1 to 354)
  AUTHORS   Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G,
            Jackson AU, Lango Allen H, Lindgren CM, Luan J, Magi R, Randall JC,
            Vedantam S, Winkler TW, Qi L, Workalemahu T, Heid IM,
            Steinthorsdottir V, Stringham HM, Weedon MN, Wheeler E, Wood AR,
            Ferreira T, Weyant RJ, Segre AV, Estrada K, Liang L, Nemesh J, Park
            JH, Gustafsson S, Kilpelainen TO, Yang J, Bouatia-Naji N, Esko T,
            Feitosa MF, Kutalik Z, Mangino M, Raychaudhuri S, Scherag A, Smith
            AV, Welch R, Zhao JH, Aben KK, Absher DM, Amin N, Dixon AL, Fisher
            E, Glazer NL, Goddard ME, Heard-Costa NL, Hoesel V, Hottenga JJ,
            Johansson A, Johnson T, Ketkar S, Lamina C, Li S, Moffatt MF, Myers
            RH, Narisu N, Perry JR, Peters MJ, Preuss M, Ripatti S, Rivadeneira
            F, Sandholt C, Scott LJ, Timpson NJ, Tyrer JP, van Wingerden S,
            Watanabe RM, White CC, Wiklund F, Barlassina C, Chasman DI, Cooper
            MN, Jansson JO, Lawrence RW, Pellikka N, Prokopenko I, Shi J,
            Thiering E, Alavere H, Alibrandi MT, Almgren P, Arnold AM, Aspelund
            T, Atwood LD, Balkau B, Balmforth AJ, Bennett AJ, Ben-Shlomo Y,
            Bergman RN, Bergmann S, Biebermann H, Blakemore AI, Boes T,
            Bonnycastle LL, Bornstein SR, Brown MJ, Buchanan TA, Busonero F,
            Campbell H, Cappuccio FP, Cavalcanti-Proenca C, Chen YD, Chen CM,
            Chines PS, Clarke R, Coin L, Connell J, Day IN, den Heijer M, Duan
            J, Ebrahim S, Elliott P, Elosua R, Eiriksdottir G, Erdos MR,
            Eriksson JG, Facheris MF, Felix SB, Fischer-Posovszky P, Folsom AR,
            Friedrich N, Freimer NB, Fu M, Gaget S, Gejman PV, Geus EJ, Gieger
            C, Gjesing AP, Goel A, Goyette P, Grallert H, Grassler J,
            Greenawalt DM, Groves CJ, Gudnason V, Guiducci C, Hartikainen AL,
            Hassanali N, Hall AS, Havulinna AS, Hayward C, Heath AC,
            Hengstenberg C, Hicks AA, Hinney A, Hofman A, Homuth G, Hui J, Igl
            W, Iribarren C, Isomaa B, Jacobs KB, Jarick I, Jewell E, John U,
            Jorgensen T, Jousilahti P, Jula A, Kaakinen M, Kajantie E, Kaplan
            LM, Kathiresan S, Kettunen J, Kinnunen L, Knowles JW, Kolcic I,
            Konig IR, Koskinen S, Kovacs P, Kuusisto J, Kraft P, Kvaloy K,
            Laitinen J, Lantieri O, Lanzani C, Launer LJ, Lecoeur C, Lehtimaki
            T, Lettre G, Liu J, Lokki ML, Lorentzon M, Luben RN, Ludwig B,
            Manunta P, Marek D, Marre M, Martin NG, McArdle WL, McCarthy A,
            McKnight B, Meitinger T, Melander O, Meyre D, Midthjell K,
            Montgomery GW, Morken MA, Morris AP, Mulic R, Ngwa JS, Nelis M,
            Neville MJ, Nyholt DR, O'Donnell CJ, O'Rahilly S, Ong KK, Oostra B,
            Pare G, Parker AN, Perola M, Pichler I, Pietilainen KH, Platou CG,
            Polasek O, Pouta A, Rafelt S, Raitakari O, Rayner NW, Ridderstrale
            M, Rief W, Ruokonen A, Robertson NR, Rzehak P, Salomaa V, Sanders
            AR, Sandhu MS, Sanna S, Saramies J, Savolainen MJ, Scherag S,
            Schipf S, Schreiber S, Schunkert H, Silander K, Sinisalo J,
            Siscovick DS, Smit JH, Soranzo N, Sovio U, Stephens J, Surakka I,
            Swift AJ, Tammesoo ML, Tardif JC, Teder-Laving M, Teslovich TM,
            Thompson JR, Thomson B, Tonjes A, Tuomi T, van Meurs JB, van Ommen
            GJ, Vatin V, Viikari J, Visvikis-Siest S, Vitart V, Vogel CI,
            Voight BF, Waite LL, Wallaschofski H, Walters GB, Widen E, Wiegand
            S, Wild SH, Willemsen G, Witte DR, Witteman JC, Xu J, Zhang Q,
            Zgaga L, Ziegler A, Zitting P, Beilby JP, Farooqi IS, Hebebrand J,
            Huikuri HV, James AL, Kahonen M, Levinson DF, Macciardi F, Nieminen
            MS, Ohlsson C, Palmer LJ, Ridker PM, Stumvoll M, Beckmann JS,
            Boeing H, Boerwinkle E, Boomsma DI, Caulfield MJ, Chanock SJ,
            Collins FS, Cupples LA, Smith GD, Erdmann J, Froguel P, Gronberg H,
            Gyllensten U, Hall P, Hansen T, Harris TB, Hattersley AT, Hayes RB,
            Heinrich J, Hu FB, Hveem K, Illig T, Jarvelin MR, Kaprio J, Karpe
            F, Khaw KT, Kiemeney LA, Krude H, Laakso M, Lawlor DA, Metspalu A,
            Munroe PB, Ouwehand WH, Pedersen O, Penninx BW, Peters A,
            Pramstaller PP, Quertermous T, Reinehr T, Rissanen A, Rudan I,
            Samani NJ, Schwarz PE, Shuldiner AR, Spector TD, Tuomilehto J, Uda
            M, Uitterlinden A, Valle TT, Wabitsch M, Waeber G, Wareham NJ,
            Watkins H, Wilson JF, Wright AF, Zillikens MC, Chatterjee N,
            McCarroll SA, Purcell S, Schadt EE, Visscher PM, Assimes TL,
            Borecki IB, Deloukas P, Fox CS, Groop LC, Haritunians T, Hunter DJ,
            Kaplan RC, Mohlke KL, O'Connell JR, Peltonen L, Schlessinger D,
            Strachan DP, van Duijn CM, Wichmann HE, Frayling TM,
            Thorsteinsdottir U, Abecasis GR, Barroso I, Boehnke M, Stefansson
            K, North KE, McCarthy MI, Hirschhorn JN, Ingelsson E and Loos RJ.
  CONSRTM   MAGIC; Procardis Consortium
  TITLE     Association analyses of 249,796 individuals reveal 18 new loci
            associated with body mass index
  JOURNAL   Nat Genet 42 (11), 937-948 (2010)
   PUBMED   20935630
REFERENCE   9  (residues 1 to 354)
  AUTHORS   Festen EA, Stokkers PC, van Diemen CC, van Bodegraven AA, Boezen
            HM, Crusius BJ, Hommes DW, van der Woude CJ, Balschun T, Verspaget
            HW, Schreiber S, de Jong DJ, Franke A, Dijkstra G, Wijmenga C and
            Weersma RK.
  TITLE     Genetic analysis in a Dutch study sample identifies more ulcerative
            colitis susceptibility loci and shows their additive role in
            disease risk
  JOURNAL   Am J Gastroenterol 105 (2), 395-402 (2010)
   PUBMED   19861958
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Am J Gastroenterol. 2010 Feb;105(2):479. van der Woude,
            Janneke C [corrected to van der Woude, C Janneke]]
REFERENCE   10 (residues 1 to 354)
  AUTHORS   Biederer T.
  TITLE     Bioinformatic characterization of the SynCAM family of
            immunoglobulin-like domain-containing adhesion molecules
  JOURNAL   Genomics 87 (1), 139-150 (2006)
   PUBMED   16311015
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC132660.7, AC119729.5,
            AC117452.2, AC119726.2 and AC107024.5.
            
            Summary: This gene encodes a member of the synaptic cell adhesion
            molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig)
            superfamily. The encoded protein has three Ig-like domains and a
            cytosolic protein 4.1 binding site near the C-terminus. Proteins
            belonging to the protein 4.1 family crosslink spectrin and interact
            with other cytoskeletal proteins. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Feb 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.68311.1,
                                           SRR1803613.63349.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2154665
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p12.1"
     Protein         1..354
                     /product="cell adhesion molecule 2 isoform 9 precursor"
                     /note="nectin-like protein 3; nectin-like 3;
                     immunoglobulin superfamily member 4D; synaptic cell
                     adhesion molecule 2"
                     /calculated_mol_wt=35592
     sig_peptide     1..30
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3353
     Region          <29..80
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          46..50
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          60..65
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          72..75
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          79..182
                     /region_name="IgI_2_Necl-3"
                     /note="Second immunoglobulin (Ig)-like domain of
                     nectin-like molecule-3 (Necl-3); member of the I-set of Ig
                     superfamily domains; cd05884"
                     /db_xref="CDD:409467"
     Region          80..83
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409467"
     Region          86..90
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409467"
     Region          99..109
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409467"
     Region          112..121
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409467"
     Region          122..125
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409467"
     Region          127..134
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409467"
     Region          140..150
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409467"
     Region          158..166
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409467"
     Region          174..181
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409467"
     Region          186..259
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          203..207
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          216..221
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          238..242
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          252..257
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          265..268
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          307..325
                     /region_name="4.1m"
                     /note="putative band 4.1 homologues' binding motif;
                     smart00294"
                     /db_xref="CDD:128590"
     CDS             1..354
                     /gene="CADM2"
                     /gene_synonym="IGSF4D; Necl-3; NECL3; SynCAM 2; synCAM2"
                     /coded_by="NM_001375967.1:620..1684"
                     /note="isoform 9 precursor is encoded by transcript
                     variant 11"
                     /db_xref="GeneID:253559"
                     /db_xref="HGNC:HGNC:29849"
                     /db_xref="MIM:609938"
ORIGIN      
        1 miwkrsavlr fysvcglllq aaasknkvka lrdnrielvr aswhelsisv sdvslsdegq
       61 ytcslftmpv ktskayltvl gvpekpqisg fsspvmegdl mqltcktsgs kpaadirwfk
      121 ndkeikdvky lkeedanrkt ftvsstldfr vdrsddgvav icrvdhesln atpqvamqvl
      181 eihytpsvki ipstpfpqeg qpliltcesk gkplpepvlw tkdggelpdp drmvvsgrel
      241 nilflnktdn gtyrceatnt igqssaeyvl ivhdpnalag qngpdhalig givavvvfvt
      301 lcsifllgry larhkgtylt neakgaedap dadtaiinae gsqvnaeekk eyfi
//
LOCUS       NP_001372733             373 aa            linear   PRI 28-DEC-2022
DEFINITION  RNA binding protein fox-1 homolog 3 isoform 3 [Homo sapiens].
ACCESSION   NP_001372733 XP_011522661
VERSION     NP_001372733.1
DBSOURCE    REFSEQ: accession NM_001385804.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 373)
  AUTHORS   Wang X, Guo Z, Zhu H, Xin J, Yuan L, Qin C, Wang M, Zhang Z, Wang Y
            and Chu H.
  TITLE     Genetic variants in splicing factor genes and susceptibility to
            bladder cancer
  JOURNAL   Gene 809, 146022 (2022)
   PUBMED   34673209
  REMARK    GeneRIF: Genetic variants in splicing factor genes and
            susceptibility to bladder cancer.
REFERENCE   2  (residues 1 to 373)
  AUTHORS   Ungari M, Manotti L, Tanzi G, Varotti E, Ferrero G, Gusolfino MD,
            Trombatore M, Cavazzuti L and Tolomini M.
  TITLE     NeuN, a DNA-binding neuron-specific protein expressed by Merkel
            cell carcinoma: analysis of 15 cases
  JOURNAL   Pathologica 113 (6), 421-426 (2021)
   PUBMED   34974547
  REMARK    GeneRIF: NeuN, a DNA-binding neuron-specific protein expressed by
            Merkel cell carcinoma: analysis of 15 cases.
REFERENCE   3  (residues 1 to 373)
  AUTHORS   Behesti H, Kocabas A, Buchholz DE, Carroll TS and Hatten ME.
  TITLE     Altered temporal sequence of transcriptional regulators in the
            generation of human cerebellar granule cells
  JOURNAL   Elife 10, e67074 (2021)
   PUBMED   34842137
  REMARK    GeneRIF: Altered temporal sequence of transcriptional regulators in
            the generation of human cerebellar granule cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 373)
  AUTHORS   Tascon-Arcila J, Rojas-Jimenez S, Cornejo-Sanchez D, Gomez-Builes
            P, Ucroz-Benavides A, Holguin BM, Restrepo-Arbelaez D,
            Gomez-Castillo C, Solarte-Mia R, Cornejo-Ochoa W and
            Pineda-Trujillo N.
  TITLE     Differential Clinical Features in Colombian Patients With Rolandic
            Epilepsy and Suggestion of Unlikely Association With GRIN2A,
            RBFOX1, or RBFOX3 Gene Variants
  JOURNAL   J Child Neurol 36 (10), 875-882 (2021)
   PUBMED   34039076
  REMARK    GeneRIF: Differential Clinical Features in Colombian Patients With
            Rolandic Epilepsy and Suggestion of Unlikely Association With
            GRIN2A, RBFOX1, or RBFOX3 Gene Variants.
REFERENCE   5  (residues 1 to 373)
  AUTHORS   Liu T, Wu X, Li Y, Lu W, Zheng F, Zhang C, Long Q, Qiu H, Li Y, Ge
            Q, Chen M, Yu X, Chen W, Zhang H, Huang W, Luo M, Deng W and Li L.
  TITLE     RBFOX3 Regulates the Chemosensitivity of Cancer Cells to
            5-Fluorouracil via the PI3K/AKT, EMT and Cytochrome-C/Caspase
            Pathways
  JOURNAL   Cell Physiol Biochem 46 (4), 1365-1380 (2018)
   PUBMED   29689552
  REMARK    GeneRIF: RBFOX3 knockdown synergized with 5-FU to inhibit the
            growth and invasion of HCC cells through PI3K/AKT and
            epithelial-mesenchymal transition (EMT) signaling, and promote
            apoptosis by activating the cytochrome-c/caspase signaling pathway.
REFERENCE   6  (residues 1 to 373)
  AUTHORS   Lal D, Reinthaler EM, Altmuller J, Toliat MR, Thiele H, Nurnberg P,
            Lerche H, Hahn A, Moller RS, Muhle H, Sander T, Zimprich F and
            Neubauer BA.
  TITLE     RBFOX1 and RBFOX3 mutations in rolandic epilepsy
  JOURNAL   PLoS One 8 (9), e73323 (2013)
   PUBMED   24039908
  REMARK    GeneRIF: Exome sequencing of 242 rolandic epilepsy patients
            revealed two novel probably deleterious variants in RBFOX1, a
            frameshift mutation (p.A233Vfs*74) and a hexanucleotide deletion
            (p.A299_A300del), and a novel nonsense mutation in RBFOX3
            (p.Y287*).
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 373)
  AUTHORS   Beaty TH, Taub MA, Scott AF, Murray JC, Marazita ML, Schwender H,
            Parker MM, Hetmanski JB, Balakrishnan P, Mansilla MA, Mangold E,
            Ludwig KU, Noethen MM, Rubini M, Elcioglu N and Ruczinski I.
  TITLE     Confirming genes influencing risk to cleft lip with/without cleft
            palate in a case-parent trio study
  JOURNAL   Hum Genet 132 (7), 771-781 (2013)
   PUBMED   23512105
  REMARK    GeneRIF: In addition, eight genes classified as 'second tier' hits
            in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2,
            GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and
            association in this replication sample.
REFERENCE   8  (residues 1 to 373)
  AUTHORS   Hagel C, Treszl A, Fehlert J, Harder J, von Haxthausen F, Kern M,
            von Bueren AO and Kordes U.
  TITLE     Supra- and infratentorial pediatric ependymomas differ
            significantly in NeuN, p75 and GFAP expression
  JOURNAL   J Neurooncol 112 (2), 191-197 (2013)
   PUBMED   23371454
  REMARK    GeneRIF: High NeuN levels are associated with supratentorial
            ependymomas.
REFERENCE   9  (residues 1 to 373)
  AUTHORS   Kim KK, Adelstein RS and Kawamoto S.
  TITLE     Identification of neuronal nuclei (NeuN) as Fox-3, a new member of
            the Fox-1 gene family of splicing factors
  JOURNAL   J Biol Chem 284 (45), 31052-31061 (2009)
   PUBMED   19713214
  REMARK    GeneRIF: NeuN (neuronal nuclei) is a neuron-specific nuclear
            protein identified by anti-NeuN antibody, and widely used as the
            postmitotic neuron marker. NeuN is identified as the Fox-3 gene
            product by mass spectrometry, immunoblotting, RNAi, and
            immunostaining.
REFERENCE   10 (residues 1 to 373)
  AUTHORS   Underwood JG, Boutz PL, Dougherty JD, Stoilov P and Black DL.
  TITLE     Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal
            splicing regulators in mammals
  JOURNAL   Mol Cell Biol 25 (22), 10005-10016 (2005)
   PUBMED   16260614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC233701.6, AC055858.18,
            AC020689.8, AC021534.19 and AC073624.28.
            On Jul 29, 2020 this sequence version replaced XP_011522661.1.
            
            Summary: This gene encodes a member of the RNA-binding FOX protein
            family which is involved in the regulation of alternative splicing
            of pre-mRNA. The protein has an N-terminal proline-rich region, an
            RNA recognition motif (RRM) domain, and a C-terminal alanine-rich
            region. This gene produces the neuronal nuclei (NeuN) antigen that
            has been widely used as a marker for post-mitotic neurons. This
            gene has its highest expression in the central nervous system and
            plays a prominent role in neural tissue development and regulation
            of adult brain function. Mutations in this gene have been
            associated with numerous neurological disorders. Alternative
            splicing of this gene results in multiple transcript variants
            encoding distinct isoforms. [provided by RefSeq, May 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1968189, SAMEA1968540
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..373
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..373
                     /product="RNA binding protein fox-1 homolog 3 isoform 3"
                     /note="fox-1 homolog C; hexaribonucleotide binding protein
                     3; neuN antigen; neuronal nuclei antigen; RNA binding
                     protein, fox-1 homolog 3"
                     /calculated_mol_wt=40284
     Region          27..232
                     /region_name="RRM"
                     /note="RNA recognition motif (RRM) domain [Translation,
                     ribosomal structure and biogenesis]; COG0724"
                     /db_xref="CDD:223796"
     Region          99..174
                     /region_name="RRM_FOX1_like"
                     /note="RNA recognition motif (RRM) found in vertebrate RNA
                     binding protein fox-1 homologs and similar proteins;
                     cd12407"
                     /db_xref="CDD:409841"
     Site            order(100,102,104..109,129..133,135..140,142,166,171..174)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:409841"
     Region          208..344
                     /region_name="Fox-1_C"
                     /note="Calcitonin gene-related peptide regulator C
                     terminal; pfam12414"
                     /db_xref="CDD:432537"
     CDS             1..373
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /coded_by="NM_001385804.1:546..1667"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="GeneID:146713"
                     /db_xref="HGNC:HGNC:27097"
                     /db_xref="MIM:616999"
ORIGIN      
        1 maqpyppaqy ppppqngipa eyapppphpt qdysgqtpvp tehgmtlytp aqthpeqpgs
       61 eastqpiagt qtvpqtdeaa qtdsqplhps dptekqqpkr lhvsnipfrf rdpdlrqmfg
      121 qfgkildvei ifnergskgf gfvtfetssd adrareklng tivegrkiev nnatarvmtn
      181 kktgnpytng wklnpvvgav ygpefyavtg fpypttgtav ayrgahlrgr gravyntfra
      241 apppppipty gaaleqtlvk mpvpwaglap cplppqqtpe payptspafp plscpfasrv
      301 vyqdgfygae iyggyaayry aqpaaaaaay sdsygrvyaa adpyhhtigp aatysigtma
      361 slcrggysrf tpy
//
LOCUS       NP_001107609             383 aa            linear   PRI 30-DEC-2022
DEFINITION  dematin isoform 2 [Homo sapiens].
ACCESSION   NP_001107609
VERSION     NP_001107609.1
DBSOURCE    REFSEQ: accession NM_001114137.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 383)
  AUTHORS   Wang M, Chen B, Zhang W, Zhang F, Qiu Y, Lin Y and Yang S.
  TITLE     Dematin inhibits glioblastoma malignancy through RhoA-mediated CDKs
            downregulation and cytoskeleton remodeling
  JOURNAL   Exp Cell Res 417 (1), 113196 (2022)
   PUBMED   35561787
  REMARK    GeneRIF: Dematin inhibits glioblastoma malignancy through
            RhoA-mediated CDKs downregulation and cytoskeleton remodeling.
REFERENCE   2  (residues 1 to 383)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 383)
  AUTHORS   Brandt GS and Bailey S.
  TITLE     Dematin, a human erythrocyte cytoskeletal protein, is a substrate
            for a recombinant FIKK kinase from Plasmodium falciparum
  JOURNAL   Mol Biochem Parasitol 191 (1), 20-23 (2013)
   PUBMED   23973789
REFERENCE   4  (residues 1 to 383)
  AUTHORS   Chen L, Brown JW, Mok YF, Hatters DM and McKnight CJ.
  TITLE     The allosteric mechanism induced by protein kinase A (PKA)
            phosphorylation of dematin (band 4.9)
  JOURNAL   J Biol Chem 288 (12), 8313-8320 (2013)
   PUBMED   23355471
  REMARK    GeneRIF: When unphosphorylated, dematin's two F-actin binding
            domains move independent of one another permitting them to bind
            different F-actin filaments.
            Erratum:[J Biol Chem. 2015 Jul 17;290(29):17808. PMID: 26188045]
REFERENCE   5  (residues 1 to 383)
  AUTHORS   Mohseni,M. and Chishti,A.H.
  TITLE     Erythrocyte dematin is a candidate gene for Marie Unna hereditary
            hypotrichosis and related hairloss disorders
  JOURNAL   Am J Hematol 83 (5), 430-432 (2008)
   PUBMED   18273904
REFERENCE   6  (residues 1 to 383)
  AUTHORS   Lutchman M, Kim AC, Cheng L, Whitehead IP, Oh SS, Hanspal M,
            Boukharov AA, Hanada T and Chishti AH.
  TITLE     Dematin interacts with the Ras-guanine nucleotide exchange factor
            Ras-GRF2 and modulates mitogen-activated protein kinase pathways
  JOURNAL   Eur J Biochem 269 (2), 638-649 (2002)
   PUBMED   11856323
REFERENCE   7  (residues 1 to 383)
  AUTHORS   Lutchman M, Pack S, Kim AC, Azim A, Emmert-Buck M, van Huffel C,
            Zhuang Z and Chishti AH.
  TITLE     Loss of heterozygosity on 8p in prostate cancer implicates a role
            for dematin in tumor progression
  JOURNAL   Cancer Genet Cytogenet 115 (1), 65-69 (1999)
   PUBMED   10565303
REFERENCE   8  (residues 1 to 383)
  AUTHORS   Azim AC, Marfatia SM, Korsgren C, Dotimas E, Cohen CM and Chishti
            AH.
  TITLE     Human erythrocyte dematin and protein 4.2 (pallidin) are ATP
            binding proteins
  JOURNAL   Biochemistry 35 (9), 3001-3006 (1996)
   PUBMED   8608138
REFERENCE   9  (residues 1 to 383)
  AUTHORS   Azim AC, Knoll JH, Beggs AH and Chishti AH.
  TITLE     Isoform cloning, actin binding, and chromosomal localization of
            human erythroid dematin, a member of the villin superfamily
  JOURNAL   J Biol Chem 270 (29), 17407-17413 (1995)
   PUBMED   7615546
REFERENCE   10 (residues 1 to 383)
  AUTHORS   Rana AP, Ruff P, Maalouf GJ, Speicher DW and Chishti AH.
  TITLE     Cloning of human erythroid dematin reveals another member of the
            villin family
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6651-6655 (1993)
   PUBMED   8341682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA634148.1, BC052805.1,
            DA267327.1, AK055842.1 and BI222385.1.
            
            Summary: The protein encoded by this gene is an actin binding and
            bundling protein that plays a structural role in erythrocytes, by
            stabilizing and attaching the spectrin/actin cytoskeleton to the
            erythrocyte membrane in a phosphorylation-dependent manner. This
            protein contains a core domain in the N-terminus, and a headpiece
            domain in the C-terminus that binds F-actin. When purified from
            erythrocytes, this protein exists as a trimer composed of two 48
            kDa polypeptides and a 52 kDa polypeptide. The different subunits
            arise from alternative splicing in the 3' coding region, where the
            headpiece domain is located. Disruption of this gene has been
            correlated with the autosomal dominant Marie Unna hereditary
            hypotrichosis disease, while loss of heterozygosity of this gene is
            thought to play a role in prostate cancer progression. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Nov 2014].
            
            Transcript Variant: This variant (4) contains an alternate exon in
            the 5' UTR and lacks an alternate in-frame exon in the 3' coding
            region, compared to variant 1. Variants 4, 5, 7, 14, 15 and 16
            encode the same isoform (2, also known as the 48 kDa subunit,
            PMID:7615546), which is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC052805.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..383
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     Protein         1..383
                     /product="dematin isoform 2"
                     /note="erythrocyte membrane protein band 4.9 (dematin)"
                     /calculated_mol_wt=42957
     Region          8..333
                     /region_name="AbLIM_anchor"
                     /note="Putative adherens-junction anchoring region of
                     AbLIM; pfam16182"
                     /db_xref="CDD:435194"
     Region          348..383
                     /region_name="VHP"
                     /note="Villin headpiece domain; smart00153"
                     /db_xref="CDD:128458"
     CDS             1..383
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /coded_by="NM_001114137.4:404..1555"
                     /note="isoform 2 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS47820.1"
                     /db_xref="GeneID:2039"
                     /db_xref="HGNC:HGNC:3382"
                     /db_xref="MIM:125305"
ORIGIN      
        1 merlqkqplt spgsvspsrd ssvpgspssi vakmdnqvlg ykdlaaipkd kaildierpd
       61 lmiyephfty sllehvelpr srerslspks tspppspevw adsrspgiis qasaprttgt
      121 prtslphfhh petsrpdsni ykkppiykqr esvggspqtk hliedliies skfpaaqppd
      181 pnqpakietd ywpcppslav vetewrkrka srrgaeeeee eedddsgeem kalrerqree
      241 lskvtsnlgk milkeemeks lpirrktrsl pdrtpfhtsl hqgtsksssl paygrttlsr
      301 lqstefspsg setgspglqi ypyemlvvtn kgrtklppgv drmrlerhls aedfsrvfam
      361 speefgklal wkrnelkkka slf
//
LOCUS       NP_001020762              96 aa            linear   PRI 31-DEC-2022
DEFINITION  secretoglobin family 2B member 2 precursor [Homo sapiens].
ACCESSION   NP_001020762 XP_378794
VERSION     NP_001020762.1
DBSOURCE    REFSEQ: accession NM_001025591.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 96)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 96)
  AUTHORS   Jackson BC, Thompson DC, Wright MW, McAndrews M, Bernard A, Nebert
            DW and Vasiliou V.
  TITLE     Update of the human secretoglobin (SCGB) gene superfamily and an
            example of 'evolutionary bloom' of androgen-binding protein genes
            within the mouse Scgb gene superfamily
  JOURNAL   Hum Genomics 5 (6), 691-702 (2011)
   PUBMED   22155607
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC020910.7, AK093495.1 and AC022143.7.
            On Jul 20, 2005 this sequence version replaced XP_378794.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            CDS exon combination :: AK093495.1, SRR14372079.313075.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1968968, SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
                                                with N-terminal localization
                                                signal
            MANE Ensembl match               :: ENST00000601241.6/
                                                ENSP00000469876.1
            RefSeq Select criteria           :: based on single protein-coding
                                                transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..96
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     Protein         1..96
                     /product="secretoglobin family 2B member 2 precursor"
                     /note="secretoglobin-like protein"
                     /calculated_mol_wt=8231
     Region          1..91
                     /region_name="Uteroglobin"
                     /note="Uteroglobin family; pfam01099"
                     /db_xref="CDD:426048"
     sig_peptide     1..23
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2350
     Site            order(26..27,30,43,47,50,55..60,62..63,66,74,76..78,
                     80..81,84)
                     /site_type="other"
                     /note="Dimer interface [polypeptide binding]"
                     /db_xref="CDD:238346"
     Site            order(27,34,43,60,63,78,81..82)
                     /site_type="other"
                     /note="Hydrophobic pocket - steroid binding site [chemical
                     binding]"
                     /db_xref="CDD:238346"
     CDS             1..96
                     /gene="SCGB2B2"
                     /gene_synonym="SCGB4A2; SCGBL"
                     /coded_by="NM_001025591.4:3562..3852"
                     /db_xref="CCDS:CCDS32989.1"
                     /db_xref="GeneID:284402"
                     /db_xref="HGNC:HGNC:27616"
                     /db_xref="MIM:615063"
ORIGIN      
        1 mrvtsatcal llalicsvql gdacldidkl lanvvfdvsq dllkeelary npsplteesf
       61 lnvqqcfanv svterfahsv vikkilqsnd cieaaf
//
LOCUS       NP_001387444             774 aa            linear   PRI 01-JAN-2023
DEFINITION  mastermind-like domain-containing protein 1 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001387444 XP_006724865
VERSION     NP_001387444.1
DBSOURCE    REFSEQ: accession NM_001400515.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 774)
  AUTHORS   Miyado M, Fukami M and Ogata T.
  TITLE     MAMLD1 and Differences/Disorders of Sex Development: An Update
  JOURNAL   Sex Dev 16 (2-3), 126-137 (2022)
   PUBMED   34695834
  REMARK    GeneRIF: MAMLD1 and Differences/Disorders of Sex Development: An
            Update.
            Review article
REFERENCE   2  (residues 1 to 774)
  AUTHORS   Wang A, Neill SG, Newman S, Tryfonidou MA, Ioachimescu A, Rossi MR,
            Meij BP and Oyesiku NM.
  TITLE     The genomic profiling and MAMLD1 expression in human and canines
            with Cushing's disease
  JOURNAL   BMC Endocr Disord 21 (1), 185 (2021)
   PUBMED   34517852
  REMARK    GeneRIF: The genomic profiling and MAMLD1 expression in human and
            canines with Cushing's disease.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 774)
  AUTHORS   Gao F, Gong C and Li L.
  TITLE     [Advance in research on the role of MAMLD1 gene in disorders of sex
            development]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 38 (9), 912-916 (2021)
   PUBMED   34487543
  REMARK    GeneRIF: [Advance in research on the role of MAMLD1 gene in
            disorders of sex development].
            Review article
REFERENCE   4  (residues 1 to 774)
  AUTHORS   Li L, Gao F, Fan L, Su C, Liang X and Gong C.
  TITLE     Disorders of Sex Development in Individuals Harbouring MAMLD1
            Variants: WES and Interactome Evidence of Oligogenic Inheritance
  JOURNAL   Front Endocrinol (Lausanne) 11, 582516 (2020)
   PUBMED   33424767
  REMARK    GeneRIF: Disorders of Sex Development in Individuals Harbouring
            MAMLD1 Variants: WES and Interactome Evidence of Oligogenic
            Inheritance.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 774)
  AUTHORS   Li L, Su C, Fan L, Gao F, Liang X and Gong C.
  TITLE     Clinical and molecular spectrum of 46,XY disorders of sex
            development that harbour MAMLD1 variations: case series and review
            of literature
  JOURNAL   Orphanet J Rare Dis 15 (1), 188 (2020)
   PUBMED   32690052
  REMARK    GeneRIF: Clinical and molecular spectrum of 46,XY disorders of sex
            development that harbour MAMLD1 variations: case series and review
            of literature.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 774)
  AUTHORS   O'Shaughnessy PJ, Baker PJ, Monteiro A, Cassie S, Bhattacharya S
            and Fowler PA.
  TITLE     Developmental changes in human fetal testicular cell numbers and
            messenger ribonucleic acid levels during the second trimester
  JOURNAL   J Clin Endocrinol Metab 92 (12), 4792-4801 (2007)
   PUBMED   17848411
REFERENCE   7  (residues 1 to 774)
  AUTHORS   Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T,
            Nordenskjold A, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada
            G, Morohashi K and Ogata T.
  TITLE     CXorf6 is a causative gene for hypospadias
  JOURNAL   Nat Genet 38 (12), 1369-1371 (2006)
   PUBMED   17086185
  REMARK    GeneRIF: identified three different nonsense mutations of CXorf6 in
            individuals with hypospadias
            Erratum:[Nat Genet. 2007 Jan;39(1):131. Nordenskjold, Agneta
            [added]]
REFERENCE   8  (residues 1 to 774)
  AUTHORS   Laporte J, Kioschis P, Hu LJ, Kretz C, Carlsson B, Poustka A,
            Mandel JL and Dahl N.
  TITLE     Cloning and characterization of an alternatively spliced gene in
            proximal Xq28 deleted in two patients with intersexual genitalia
            and myotubular myopathy
  JOURNAL   Genomics 41 (3), 458-462 (1997)
   PUBMED   9169146
  REMARK    GeneRIF: The identification and genomic characterization of the F18
            (MAMLD1) gene in human
REFERENCE   9  (residues 1 to 774)
  AUTHORS   Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck
            SM, Poustka A and Dahl N.
  TITLE     A gene mutated in X-linked myotubular myopathy defines a new
            putative tyrosine phosphatase family conserved in yeast
  JOURNAL   Nat Genet 13 (2), 175-182 (1996)
   PUBMED   8640223
REFERENCE   10 (residues 1 to 774)
  AUTHORS   Hu LJ, Laporte J, Kress W, Kioschis P, Siebenhaar R, Poustka A,
            Fardeau M, Metzenberg A, Janssen EA, Thomas N, Mandel JL and Dahl
            N.
  TITLE     Deletions in Xq28 in two boys with myotubular myopathy and abnormal
            genital development define a new contiguous gene syndrome in a 430
            kb region
  JOURNAL   Hum Mol Genet 5 (1), 139-143 (1996)
   PUBMED   8789451
  REMARK    GeneRIF: Deletion of the F18 (MAMLD1) and MTM1 genes in two
            patients with congenital myopathy and hypospadias
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC235697.3, AC235953.3 and
            AC136957.1.
            On Jan 25, 2022 this sequence version replaced XP_006724865.1.
            
            Summary: This gene encodes a mastermind-like domain containing
            protein. This protein may function as a transcriptional
            co-activator. Mutations in this gene are the cause of X-linked
            hypospadias type 2. Alternate splicing results in multiple
            transcript variants. [provided by RefSeq, Apr 2010].
            
            Transcript Variant: Variants 2 and 7 encode the same isoform (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.59071.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..774
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..774
                     /product="mastermind-like domain-containing protein 1
                     isoform 2"
                     /note="mastermind-like domain-containing protein 1"
                     /calculated_mol_wt=83100
     Region          257..279
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13495.2)"
     Region          310..365
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13495.2)"
     Region          386..421
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13495.2)"
     Region          442..473
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13495.2)"
     Region          525..609
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13495.2)"
     Region          656..678
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13495.2)"
     Site            676
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13495.2)"
     Region          755..774
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13495.2)"
     CDS             1..774
                     /gene="MAMLD1"
                     /gene_synonym="CG1; CXorf6; F18; HYSP2"
                     /coded_by="NM_001400515.1:262..2586"
                     /note="isoform 2 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS14693.2"
                     /db_xref="GeneID:10046"
                     /db_xref="HGNC:HGNC:2568"
                     /db_xref="MIM:300120"
ORIGIN      
        1 mddwksrlvi ksmlphfamv gnrqeprklq esgkkpswme eedlsflyks spgrkhqgtv
       61 krrqeedhfq fpdmadggyp nkikrpcled vtlamgpgah pstacaelqv ppltinpspa
      121 amgvagqsll lennpmngni mgspfvvpqt tevglkgptv pyyekinsvp avdqelqell
      181 eeltkiqdps pneldlekil gtkpeeplvl dhpqatlstt pkpsvqmshl eslasskefa
      241 sscsqvtgms lqipssstgi sysipstskq ivspsssmaq sksqvqamlp valpplpvpq
      301 whhahqlkal aaskqgsatk qqgptpswsg lpppglsppy rpvpsphppp lplppppppf
      361 spqslmvscm ssntlsgstl rgspnallss mtsssnaalg pampyapekl pspaltqqpq
      421 fgpqssilan lmsstiktpq ghlmsalpas npgpsppyrp eklsspglpq qsftpqcsli
      481 rsltptsnll sqqqqqqqqq qqanvifkpi ssnssktlsm imqqgmasss pgatepftfg
      541 ntkplshfvs epgpqkmpsm pttsrqpsll hylqqptptq assatassta tatlqlqqqq
      601 qqqqqqpdhs sfllqqmmqq pqrfqrsvas dsmpalprqg cchlfawtsa assvkpqhqh
      661 gnsftsrqdp qpgdvspsni thvdkacklg earhpqvslg rqppscqalg sesflpgssf
      721 ahelarvtss ystseaapwg swdpkawrqv papllpscda targteirsy gndp
//
LOCUS       NP_001374823             913 aa            linear   PRI 29-JAN-2023
DEFINITION  epithelial discoidin domain-containing receptor 1 isoform 2
            precursor [Homo sapiens].
ACCESSION   NP_001374823
VERSION     NP_001374823.1
DBSOURCE    REFSEQ: accession NM_001387894.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 913)
  AUTHORS   Silva ME, Hernandez-Andrade M, Abasolo N, Espinoza-Cruells C,
            Mansilla JB, Reyes CR, Aranda S, Esteban Y, Rodriguez-Calvo R,
            Martorell L, Muntane G, Rivera FJ and Vilella E.
  TITLE     DDR1 and Its Ligand, Collagen IV, Are Involved in In Vitro
            Oligodendrocyte Maturation
  JOURNAL   Int J Mol Sci 24 (2), 1742 (2023)
   PUBMED   36675255
  REMARK    GeneRIF: DDR1 and Its Ligand, Collagen IV, Are Involved in In Vitro
            Oligodendrocyte Maturation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 913)
  AUTHORS   Duan X, Xu X, Zhang Y, Gao Y, Zhou J and Li J.
  TITLE     DDR1 functions as an immune negative factor in colorectal cancer by
            regulating tumor-infiltrating T cells through IL-18
  JOURNAL   Cancer Sci 113 (11), 3672-3685 (2022)
   PUBMED   35969377
  REMARK    GeneRIF: DDR1 functions as an immune negative factor in colorectal
            cancer by regulating tumor-infiltrating T cells through IL-18.
REFERENCE   3  (residues 1 to 913)
  AUTHORS   Gonzalez-Molina J, Kirchhof KM, Rathod B, Moyano-Galceran L,
            Calvo-Noriega M, Kokaraki G, Bjorkoy A, Ehnman M, Carlson JW and
            Lehti K.
  TITLE     Mechanical Confinement and DDR1 Signaling Synergize to Regulate
            Collagen-Induced Apoptosis in Rhabdomyosarcoma Cells
  JOURNAL   Adv Sci (Weinh) 9 (28), e2202552 (2022)
   PUBMED   35957513
  REMARK    GeneRIF: Mechanical Confinement and DDR1 Signaling Synergize to
            Regulate Collagen-Induced Apoptosis in Rhabdomyosarcoma Cells.
REFERENCE   4  (residues 1 to 913)
  AUTHORS   Li X, Li Q, Xiong B, Chen H, Wang X and Zhang D.
  TITLE     Discoidin domain receptor 1(DDR1) promote intestinal barrier
            disruption in Ulcerative Colitis through tight junction proteins
            degradation and epithelium apoptosis
  JOURNAL   Pharmacol Res 183, 106368 (2022)
   PUBMED   35905891
  REMARK    GeneRIF: Discoidin domain receptor 1(DDR1) promote intestinal
            barrier disruption in Ulcerative Colitis through tight junction
            proteins degradation and epithelium apoptosis.
REFERENCE   5  (residues 1 to 913)
  AUTHORS   Wang S, Fu Y, Kuerban K, Liu J, Huang X, Pan D, Chen H, Zhu Y and
            Ye L.
  TITLE     Discoidin domain receptor 1 is a potential target correlated with
            tumor invasion and immune infiltration in gastric cancer
  JOURNAL   Front Immunol 13, 933165 (2022)
   PUBMED   35935941
  REMARK    GeneRIF: Discoidin domain receptor 1 is a potential target
            correlated with tumor invasion and immune infiltration in gastric
            cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 913)
  AUTHORS   Alves F, Saupe S, Ledwon M, Schaub F, Hiddemann W and Vogel WF.
  TITLE     Identification of two novel, kinase-deficient variants of discoidin
            domain receptor 1: differential expression in human colon cancer
            cell lines
  JOURNAL   FASEB J 15 (7), 1321-1323 (2001)
   PUBMED   11344127
REFERENCE   7  (residues 1 to 913)
  AUTHORS   Shelling AN, Butler R, Jones T, Laval S, Boyle JM and Ganesan TS.
  TITLE     Localization of an epithelial-specific receptor kinase (EDDR1) to
            chromosome 6q16
  JOURNAL   Genomics 25 (2), 584-587 (1995)
   PUBMED   7789998
REFERENCE   8  (residues 1 to 913)
  AUTHORS   Edelhoff S, Sweetser DA and Disteche CM.
  TITLE     Mapping of the NEP receptor tyrosine kinase gene to human
            chromosome 6p21.3 and mouse chromosome 17C
  JOURNAL   Genomics 25 (1), 309-311 (1995)
   PUBMED   7774938
REFERENCE   9  (residues 1 to 913)
  AUTHORS   Laval S, Butler R, Shelling AN, Hanby AM, Poulsom R and Ganesan TS.
  TITLE     Isolation and characterization of an epithelial-specific receptor
            tyrosine kinase from an ovarian cancer cell line
  JOURNAL   Cell Growth Differ 5 (11), 1173-1183 (1994)
   PUBMED   7848919
REFERENCE   10 (residues 1 to 913)
  AUTHORS   Weiner TM, Liu ET, Craven RJ and Cance WG.
  TITLE     Expression of growth factor receptors, the focal adhesion kinase,
            and other tyrosine kinases in human soft tissue tumors
  JOURNAL   Ann Surg Oncol 1 (1), 18-27 (1994)
   PUBMED   7834423
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL662870.16.
            
            Summary: Receptor tyrosine kinases play a key role in the
            communication of cells with their microenvironment. These kinases
            are involved in the regulation of cell growth, differentiation and
            metabolism. The protein encoded by this gene belongs to a subfamily
            of tyrosine kinase receptors with homology to Dictyostelium
            discoideum protein discoidin I in their extracellular domain, and
            that are activated by various types of collagen. Expression of this
            protein is restricted to epithelial cells, particularly in the
            kidney, lung, gastrointestinal tract, and brain. In addition, it
            has been shown to be significantly overexpressed in several human
            tumors. Alternatively spliced transcript variants encoding
            different isoforms have been described for this gene. [provided by
            RefSeq, Feb 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.381154.1,
                                           SRR14038193.1234744.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..913
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     Protein         1..913
                     /product="epithelial discoidin domain-containing receptor
                     1 isoform 2 precursor"
                     /EC_number="2.7.10.1"
                     /note="cell adhesion kinase; neurotrophic tyrosine kinase,
                     receptor, type 4; neuroepithelial tyrosine kinase; PTK3A
                     protein tyrosine kinase 3A; epithelial discoidin
                     domain-containing receptor 1; tyrosine kinase DDR; mammary
                     carcinoma kinase 10; tyrosine-protein kinase CAK;
                     protein-tyrosine kinase RTK-6; CD167 antigen-like family
                     member A"
                     /calculated_mol_wt=99176
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1970
     Region          60..184
                     /region_name="FA58C"
                     /note="Coagulation factor 5/8 C-terminal domain, discoidin
                     domain; Cell surface-attached carbohydrate-binding domain,
                     present in eukaryotes and assumed to have horizontally
                     transferred to eubacterial genomes; cd00057"
                     /db_xref="CDD:238014"
     Site            order(74,105,113)
                     /site_type="other"
                     /note="sugar binding site [chemical binding]"
                     /db_xref="CDD:238014"
     Region          192..367
                     /region_name="DS-like domain"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08345.1)"
     Site            211
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22483115,
                     ECO:0000269|PubMed:24509848; propagated from
                     UniProtKB/Swiss-Prot (Q08345.1)"
     Site            260
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22483115,
                     ECO:0000269|PubMed:24509848; propagated from
                     UniProtKB/Swiss-Prot (Q08345.1)"
     Site            370
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q08345.1)"
     Site            394
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q08345.1)"
     Site            418..438
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08345.1)"
     Region          470..499
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08345.1)"
     Region          481..484
                     /region_name="PPxY motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08345.1)"
     Site            484
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:24509848; propagated from
                     UniProtKB/Swiss-Prot (Q08345.1)"
     Site            513
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:24509848,
                     ECO:0000269|PubMed:9659899; propagated from
                     UniProtKB/Swiss-Prot (Q08345.1)"
     Site            520
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:24509848; propagated from
                     UniProtKB/Swiss-Prot (Q08345.1)"
     Region          604..907
                     /region_name="PTKc_DDR1"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Discoidin Domain Receptor 1; cd05096"
                     /db_xref="CDD:133227"
     Site            order(616..620,624,653,655,701..704,707..708,766,770..771,
                     773,784,802..806,815,850)
                     /site_type="active"
                     /db_xref="CDD:133227"
     Site            order(616..617,619..620,624,653,655,701..704,707..708,
                     770..771,773,784)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133227"
     Site            631
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q08345.1)"
     Site            740
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000305|PubMed:16337946; propagated from
                     UniProtKB/Swiss-Prot (Q08345.1)"
     Site            order(766,770,802..806,815,850)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133227"
     Site            783..808
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133227"
     Site            792
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:24509848; propagated from
                     UniProtKB/Swiss-Prot (Q08345.1)"
     Site            796
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:24509848; propagated from
                     UniProtKB/Swiss-Prot (Q08345.1)"
     Site            797
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:24509848; propagated from
                     UniProtKB/Swiss-Prot (Q08345.1)"
     CDS             1..913
                     /gene="DDR1"
                     /gene_synonym="CAK; CD167; DDR; EDDR1; HGK2; MCK10; NEP;
                     NTRK4; PTK3; PTK3A; RTK6; TRKE"
                     /coded_by="NM_001387894.1:266..3007"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 12"
                     /db_xref="CCDS:CCDS34385.1"
                     /db_xref="GeneID:780"
                     /db_xref="HGNC:HGNC:2730"
                     /db_xref="MIM:600408"
ORIGIN      
        1 mgpealssll llllvasgda dmkghfdpak cryalgmqdr tipdsdisas sswsdstaar
       61 hsrlessdgd gawcpagsvf pkeeeylqvd lqrlhlvalv gtqgrhaggl gkefsrsyrl
      121 rysrdgrrwm gwkdrwgqev isgnedpegv vlkdlgppmv arlvrfypra drvmsvclrv
      181 elygclwrdg llsytapvgq tmylseavyl ndstydghtv gglqygglgq ladgvvgldd
      241 frksqelrvw pgydyvgwsn hsfssgyvem efefdrlraf qamqvhcnnm htlgarlpgg
      301 vecrfrrgpa mawegepmrh nlggnlgdpr aravsvplgg rvarflqcrf lfagpwllfs
      361 eisfisdvvn nsspalggtf ppapwwppgp pptnfsslel eprgqqpvak aegsptaili
      421 gclvaiilll lliialmlwr lhwrrllska errvleeelt vhlsvpgdti linnrpgpre
      481 pppyqeprpr gnpphsapcv pngsalllsn payrlllaty arpprgpgpp tpawakptnt
      541 qaysgdymep ekpgapllpp ppqnsvphya eadivtlqgv tggntyavpa lppgavgdgp
      601 prvdfprsrl rfkeklgegq fgevhlcevd spqdlvsldf plnvrkghpl lvavkilrpd
      661 atknarndfl kevkimsrlk dpniirllgv cvqddplcmi tdymengdln qflsahqled
      721 kaaegapgdg qaaqgptisy pmllhvaaqi asgmrylatl nfvhrdlatr nclvgenfti
      781 kiadfgmsrn lyagdyyrvq gravlpirwm awecilmgkf ttasdvwafg vtlwevlmlc
      841 raqpfgqltd eqvienagef frdqgrqvyl srppacpqgl yelmlrcwsr eseqrppfsq
      901 lhrflaedal ntv
//
LOCUS       NP_001307515             172 aa            linear   PRI 23-FEB-2023
DEFINITION  acylphosphatase-2 isoform 1 [Homo sapiens].
ACCESSION   NP_001307515
VERSION     NP_001307515.1
DBSOURCE    REFSEQ: accession NM_001320586.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 172)
  AUTHORS   Gentiluomo M, Luddi A, Cingolani A, Fornili M, Governini L,
            Lucenteforte E, Baglietto L, Piomboni P and Campa D.
  TITLE     Telomere Length and Male Fertility
  JOURNAL   Int J Mol Sci 22 (8), 3959 (2021)
   PUBMED   33921254
  REMARK    GeneRIF: Telomere Length and Male Fertility.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 172)
  AUTHORS   AlDehaini DMB, Al-Bustan SA, Malalla ZHA, Ali ME, Sater M and Giha
            HA.
  TITLE     The influence of TERC, TERT and ACYP2 genes polymorphisms on plasma
            telomerase concentration, telomeres length and T2DM
  JOURNAL   Gene 766, 145127 (2021)
   PUBMED   32937184
  REMARK    GeneRIF: The influence of TERC, TERT and ACYP2 genes polymorphisms
            on plasma telomerase concentration, telomeres length and T2DM.
REFERENCE   3  (residues 1 to 172)
  AUTHORS   Li M, Ruan B, Wei J, Yang Q, Chen M, Ji M and Hou P.
  TITLE     ACYP2 contributes to malignant progression of glioma through
            promoting Ca2+ efflux and subsequently activating c-Myc and STAT3
            signals
  JOURNAL   J Exp Clin Cancer Res 39 (1), 106 (2020)
   PUBMED   32517717
  REMARK    GeneRIF: ACYP2 contributes to malignant progression of glioma
            through promoting Ca(2+) efflux and subsequently activating c-Myc
            and STAT3 signals.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 172)
  AUTHORS   Wang Y, Zhang Y, Sun Y, Wu J, Chang J, Xiong Z, Niu F, Gu S and Jin
            T.
  TITLE     Association between ACYP2 polymorphisms and the risk of renal cell
            cancer
  JOURNAL   Mol Genet Genomic Med 7 (11), e966 (2019)
   PUBMED   31487124
  REMARK    GeneRIF: ACYP2 polymorphisms are associated with the risk of renal
            cell cancer.
REFERENCE   5  (residues 1 to 172)
  AUTHORS   Jin G, Liang Y, Yan X, Zhang L, Li Z, Yin A, Wang X and Tian P.
  TITLE     Association between the ACYP2 Polymorphisms and IgAN Risk in the
            Chinese Han Population
  JOURNAL   Kidney Blood Press Res 44 (4), 810-822 (2019)
   PUBMED   31291640
  REMARK    GeneRIF: findings suggested that polymorphisms (rs843720 and
            rs12615793) of ACYP2 may be pivotal in the development of IgAN
REFERENCE   6  (residues 1 to 172)
  AUTHORS   Fiaschi T, Marzocchini R, Raugei G, Veggi D, Chiarugi P and Ramponi
            G.
  TITLE     The 5'-untranslated region of the human muscle acylphosphatase mRNA
            has an inhibitory effect on protein expression
  JOURNAL   FEBS Lett 417 (1), 130-134 (1997)
   PUBMED   9395090
REFERENCE   7  (residues 1 to 172)
  AUTHORS   Chiarugi P, Raugei G, Marzocchini R, Fiaschi T, Ciccarelli C, Berti
            A and Ramponi G.
  TITLE     Differential modulation of expression of the two acylphosphatase
            isoenzymes by thyroid hormone
  JOURNAL   Biochem J 311 (Pt 2) (Pt 2), 567-573 (1995)
   PUBMED   7487897
REFERENCE   8  (residues 1 to 172)
  AUTHORS   Fiaschi T, Raugei G, Marzocchini R, Chiarugi P, Cirri P and Ramponi
            G.
  TITLE     Cloning and expression of the cDNA coding for the erythrocyte
            isoenzyme of human acylphosphatase
  JOURNAL   FEBS Lett 367 (2), 145-148 (1995)
   PUBMED   7796909
REFERENCE   9  (residues 1 to 172)
  AUTHORS   Liguri,G., Camici,G., Manao,G., Cappugi,G., Nassi,P., Modesti,A.
            and Ramponi,G.
  TITLE     A new acylphosphatase isoenzyme from human erythrocytes:
            purification, characterization, and primary structure
  JOURNAL   Biochemistry 25 (24), 8089-8094 (1986)
   PUBMED   3026468
REFERENCE   10 (residues 1 to 172)
  AUTHORS   Manao,G., Camici,G., Modesti,A., Liguri,G., Berti,A., Stefani,M.,
            Cappugi,G. and Ramponi,G.
  TITLE     Human skeletal muscle acylphosphatase: the primary structure
  JOURNAL   Mol Biol Med 2 (6), 369-378 (1984)
   PUBMED   6100723
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU543943.1 and CA308062.1.
            
            Summary: Acylphosphatase can hydrolyze the phosphoenzyme
            intermediate of different membrane pumps, particularly the
            Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle.
            Two isoenzymes have been isolated, called muscle acylphosphatase
            and erythrocyte acylphosphatase on the basis of their tissue
            localization. This gene encodes the muscle-type isoform (MT). An
            increase of the MT isoform is associated with muscle
            differentiation. Several transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Feb
            2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.363332.1, BU543943.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000607452.6/ ENSP00000475986.1
            RefSeq Select criteria :: based on manual assertion, longest
                                      protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..172
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.2"
     Protein         1..172
                     /product="acylphosphatase-2 isoform 1"
                     /EC_number="3.6.1.7"
                     /note="acylphosphate phosphohydrolase 2; acylphosphatase,
                     muscle type isozyme; acylphosphatase 2, muscle type;
                     testicular tissue protein Li 11"
                     /calculated_mol_wt=19446
     Region          94..170
                     /region_name="Acylphosphatase"
                     /note="cl00551"
                     /db_xref="CDD:444972"
     CDS             1..172
                     /gene="ACYP2"
                     /gene_synonym="ACYM; ACYP"
                     /coded_by="NM_001320586.2:246..764"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS82452.1"
                     /db_xref="GeneID:98"
                     /db_xref="HGNC:HGNC:180"
                     /db_xref="MIM:102595"
ORIGIN      
        1 mlltqslfgg lfprtretmr rykvslfylg csrtpnvkls sclglpccwd ysykfiqlse
       61 fgfgqviivs eepwkenisc ssttfiksti clsvcfrmyt edearkigvv gwvkntskgt
      121 vtgqvqgped kvnsmkswls kvgspssrid rtnfsnekti skleysnfsi ry
//
LOCUS       NP_001341498             357 aa            linear   PRI 11-MAR-2023
DEFINITION  protein NDRG2 isoform b [Homo sapiens].
ACCESSION   NP_001341498
VERSION     NP_001341498.1
DBSOURCE    REFSEQ: accession NM_001354569.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 357)
  AUTHORS   Wang J, Yuan Y, Zhang K, Sun X, Bu X, Dong J, Wu Y, Tian H and Shen
            L.
  TITLE     [NDRG2 inhibits tumorigenesis of hepatocellular carcinoma by
            regulating metabolism of phospholipids and triglyceride: a
            metabonomic analysis]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 42 (12), 1765-1773 (2022)
   PUBMED   36651243
  REMARK    GeneRIF: [NDRG2 inhibits tumorigenesis of hepatocellular carcinoma
            by regulating metabolism of phospholipids and triglyceride: a
            metabonomic analysis].
REFERENCE   2  (residues 1 to 357)
  AUTHORS   Feng D, Zhou J, Liu H, Wu X, Li F, Zhao J, Zhang Y, Wang L, Chao M,
            Wang Q, Qin H, Ge S, Liu Q, Zhang J and Qu Y.
  TITLE     Astrocytic NDRG2-PPM1A interaction exacerbates blood-brain barrier
            disruption after subarachnoid hemorrhage
  JOURNAL   Sci Adv 8 (39), eabq2423 (2022)
   PUBMED   36179025
  REMARK    GeneRIF: Astrocytic NDRG2-PPM1A interaction exacerbates blood-brain
            barrier disruption after subarachnoid hemorrhage.
REFERENCE   3  (residues 1 to 357)
  AUTHORS   Lee KW, Lim S and Kim KD.
  TITLE     The Function of N-Myc Downstream-Regulated Gene 2 (NDRG2) as a
            Negative Regulator in Tumor Cell Metastasis
  JOURNAL   Int J Mol Sci 23 (16), 9365 (2022)
   PUBMED   36012631
  REMARK    GeneRIF: The Function of N-Myc Downstream-Regulated Gene 2 (NDRG2)
            as a Negative Regulator in Tumor Cell Metastasis.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 357)
  AUTHORS   Feng RB, Zhou QZ, Cheng R, Li P, Zhu ST, Min L and Zhang ST.
  TITLE     Expression and Significance of N-myc downstream regulated gene 2 in
            the process of Esophageal Squamous Cell Carcinogenesis
  JOURNAL   Bioengineered 13 (2), 3275-3283 (2022)
   PUBMED   35048779
  REMARK    GeneRIF: Expression and Significance of N-myc downstream regulated
            gene 2 in the process of Esophageal Squamous Cell Carcinogenesis.
REFERENCE   5  (residues 1 to 357)
  AUTHORS   Zhai Z, Mu T, Zhao L, Li Y, Zhu D and Pan Y.
  TITLE     MiR-181a-5p facilitates proliferation, invasion, and glycolysis of
            breast cancer through NDRG2-mediated activation of PTEN/AKT pathway
  JOURNAL   Bioengineered 13 (1), 83-95 (2022)
   PUBMED   34951340
  REMARK    GeneRIF: MiR-181a-5p facilitates proliferation, invasion, and
            glycolysis of breast cancer through NDRG2-mediated activation of
            PTEN/AKT pathway.
REFERENCE   6  (residues 1 to 357)
  AUTHORS   Deng Y, Yao L, Chau L, Ng SS, Peng Y, Liu X, Au WS, Wang J, Li F,
            Ji S, Han H, Nie X, Li Q, Kung HF, Leung SY and Lin MC.
  TITLE     N-Myc downstream-regulated gene 2 (NDRG2) inhibits glioblastoma
            cell proliferation
  JOURNAL   Int J Cancer 106 (3), 342-347 (2003)
   PUBMED   12845671
  REMARK    GeneRIF: Down-Regulation of N-Myc downstream-regulated gene 2 is
            associated with glioblastoma
            Erratum:[Int J Cancer. 2003 Oct 10;106(6):984]
REFERENCE   7  (residues 1 to 357)
  AUTHORS   Ohki T, Hongo S, Nakada N, Maeda A and Takeda M.
  TITLE     Inhibition of neurite outgrowth by reduced level of NDRG4 protein
            in antisense transfected PC12 cells
  JOURNAL   Brain Res Dev Brain Res 135 (1-2), 55-63 (2002)
   PUBMED   11978393
REFERENCE   8  (residues 1 to 357)
  AUTHORS   Qu X, Zhai Y, Wei H, Zhang C, Xing G, Yu Y and He F.
  TITLE     Characterization and expression of three novel
            differentiation-related genes belong to the human NDRG gene family
  JOURNAL   Mol Cell Biochem 229 (1-2), 35-44 (2002)
   PUBMED   11936845
  REMARK    GeneRIF: Cloning and expression of the gene; highly expressed in
            adult skeletal muscle and brain
REFERENCE   9  (residues 1 to 357)
  AUTHORS   Zhou RH, Kokame K, Tsukamoto Y, Yutani C, Kato H and Miyata T.
  TITLE     Characterization of the human NDRG gene family: a newly identified
            member, NDRG4, is specifically expressed in brain and heart
  JOURNAL   Genomics 73 (1), 86-97 (2001)
   PUBMED   11352569
REFERENCE   10 (residues 1 to 357)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161668.6.
            
            Summary: This gene is a member of the N-myc downregulated gene
            family which belongs to the alpha/beta hydrolase superfamily. The
            protein encoded by this gene is a cytoplasmic protein that may play
            a role in neurite outgrowth. This gene may be involved in
            glioblastoma carcinogenesis. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Aug 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AF159092.3 [ECO:0000331]
            RNAseq introns       :: partial sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..357
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     Protein         1..357
                     /product="protein NDRG2 isoform b"
                     /note="cytoplasmic protein Ndr1; NDR1-related protein
                     NDR2; N-myc downstream regulator 2; syld709613 protein;
                     protein NDRG2; N-myc downstream-regulated gene 2 protein"
                     /calculated_mol_wt=39159
     Region          26..304
                     /region_name="Ndr"
                     /note="Ndr family; pfam03096"
                     /db_xref="CDD:397285"
     CDS             1..357
                     /gene="NDRG2"
                     /gene_synonym="SYLD"
                     /coded_by="NM_001354569.1:115..1188"
                     /note="isoform b is encoded by transcript variant 26"
                     /db_xref="CCDS:CCDS9564.1"
                     /db_xref="GeneID:57447"
                     /db_xref="HGNC:HGNC:14460"
                     /db_xref="MIM:605272"
ORIGIN      
        1 maelqevqit eekpllpgqt peaakthsve tpygsvtftv ygtpkpkrpa iltyhdvgln
       61 ykscfqplfq fedmqeiiqn fvrvhvdapg meegapvfpl gyqypsldql admipcvlqy
      121 lnfstiigvg vgagayilar yalnhpdtve glvlinidpn akgwmdwaah kltgltssip
      181 emilghlfsq eelsgnseli qkyrniitha pnldnielyw nsynnrrdln ferggditlr
      241 cpvmlvvgdq aphedavvec nskldptqts flkmadsggq pqltqpgklt eafkyflqgm
      301 gymasscmtr lsrsrtaslt saasvdgnrs rsrtlsqsse sgtlssgppg htmevsc
//
LOCUS       NP_075392                525 aa            linear   PRI 14-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein SOWAHC [Homo sapiens].
ACCESSION   NP_075392
VERSION     NP_075392.2
DBSOURCE    REFSEQ: accession NM_023016.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 525)
  AUTHORS   Zhu Q, Wang J, Zhang Q, Wang F, Fang L, Song B, Xie C and Liu J.
  TITLE     Methylation-driven genes PMPCAP1, SOWAHC and ZNF454 as potential
            prognostic biomarkers in lung squamous cell carcinoma
  JOURNAL   Mol Med Rep 21 (3), 1285-1295 (2020)
   PUBMED   32016477
  REMARK    GeneRIF: Methylationdriven genes PMPCAP1, SOWAHC and ZNF454 as
            potential prognostic biomarkers in lung squamous cell carcinoma.
REFERENCE   2  (residues 1 to 525)
  AUTHORS   Maeso I, Irimia M, Tena JJ, Gonzalez-Perez E, Tran D, Ravi V,
            Venkatesh B, Campuzano S, Gomez-Skarmeta JL and Garcia-Fernandez J.
  TITLE     An ancient genomic regulatory block conserved across bilaterians
            and its dismantling in tetrapods by retrogene replacement
  JOURNAL   Genome Res 22 (4), 642-655 (2012)
   PUBMED   22234889
REFERENCE   3  (residues 1 to 525)
  AUTHORS   Beausoleil SA, Villen J, Gerber SA, Rush J and Gygi SP.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC066772.1, AC011753.6, AK023346.1 and AK025523.1.
            On Oct 23, 2004 this sequence version replaced NP_075392.1.
            
            ##Evidence-Data-START##
            Transcript is intronless :: AK025523.1, BC066772.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356454.5/ ENSP00000365830.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..525
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q13"
     Protein         1..525
                     /product="ankyrin repeat domain-containing protein SOWAHC"
                     /note="ankyrin repeat domain-containing protein 57;
                     ankyrin repeat domain 57; protein sosondowah homolog C"
                     /calculated_mol_wt=55541
     Region          <5..203
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     Region          84..263
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53LP3.1)"
     Site            88
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8C0J6; propagated from
                     UniProtKB/Swiss-Prot (Q53LP3.1)"
     Site            126
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q53LP3.1)"
     Site            213
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q53LP3.1)"
     Site            226
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243; propagated from
                     UniProtKB/Swiss-Prot (Q53LP3.1)"
     Region          272..372
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          301..330
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53LP3.1)"
     Region          302..338
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          340..372
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          340..370
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53LP3.1)"
     Region          434..525
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53LP3.1)"
     CDS             1..525
                     /gene="SOWAHC"
                     /gene_synonym="ANKRD57; C2orf26"
                     /coded_by="NM_023016.4:127..1704"
                     /db_xref="CCDS:CCDS33270.1"
                     /db_xref="GeneID:65124"
                     /db_xref="HGNC:HGNC:26149"
ORIGIN      
        1 megpaewgpe aalgpeavlr flaerggral haelvqhfrg alggepeqra rarahfkelv
       61 navatvrvdp adgakyvhlk krfcegpsep sgdppriqvt aepeapdgpa gpeardrlpd
      121 aaapeslpgq grelgegepp apahwpplsa garrknsrrd vqplprtpap gpsedlelpp
      181 hgceeadrgs slvgataqrp arqnlrdlvm gsspqlkrsv cpggsspgss sgggrgrggg
      241 dsdsasvass saeeessggg svtldpleha wmlsasdgkw dsleglltce pgllvkrdfi
      301 tgftclhwaa khgrqellam lvnfankhql pvnidartsg gytalhlaam hghvevvkll
      361 vgaydadvdi rdysgkkasq ylsrsiaeei knlvgaldeg dgesaagsgg grwrlskvlp
      421 shlityklsh aledggdhhh hhhsaegwvg gkakdpgrka sgsssgrikp rlnkirfrtq
      481 ivhttpsfrd peqplegrge egvgeerpvk ghspftlrpk snvfg
//
LOCUS       NP_114439                641 aa            linear   PRI 15-MAR-2023
DEFINITION  POZ-, AT hook-, and zinc finger-containing protein 1 isoform long A
            [Homo sapiens].
ACCESSION   NP_114439
VERSION     NP_114439.1
DBSOURCE    REFSEQ: accession NM_032050.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 641)
  AUTHORS   Alhalabi KT, Stichel D, Sievers P, Peterziel H, Sommerkamp AC,
            Sturm D, Wittmann A, Sill M, Jager N, Beck P, Pajtler KW, Snuderl
            M, Jour G, Delorenzo M, Martin AM, Levy A, Dalvi N, Hansford JR,
            Gottardo NG, Uro-Coste E, Maurage CA, Godfraind C, Vandenbos F,
            Pietsch T, Kramm C, Filippidou M, Kattamis A, Jones C, Ora I,
            Mikkelsen TS, Zapotocky M, Sumerauer D, Scheie D, McCabe M,
            Wesseling P, Tops BBJ, Kranendonk MEG, Karajannis MA, Bouvier N,
            Papaemmanuil E, Dohmen H, Acker T, von Hoff K, Schmid S, Miele E,
            Filipski K, Kitanovski L, Krskova L, Gojo J, Haberler C, Alvaro F,
            Ecker J, Selt F, Milde T, Witt O, Oehme I, Kool M, von Deimling A,
            Korshunov A, Pfister SM, Sahm F and Jones DTW.
  TITLE     PATZ1 fusions define a novel molecularly distinct neuroepithelial
            tumor entity with a broad histological spectrum
  JOURNAL   Acta Neuropathol 142 (5), 841-857 (2021)
   PUBMED   34417833
  REMARK    GeneRIF: PATZ1 fusions define a novel molecularly distinct
            neuroepithelial tumor entity with a broad histological spectrum.
REFERENCE   2  (residues 1 to 641)
  AUTHORS   Rossi S, Barresi S, Giovannoni I, Alesi V, Ciolfi A, Colafati GS,
            Diomedi-Camassei F, Miele E, Cacchione A, Quacquarini D, Carai A,
            Tartaglia M, Giannini C, Giangaspero F, Mastronuzzi A and Alaggio
            R.
  TITLE     Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An
            infantile case with leptomeningeal dissemination
  JOURNAL   Brain Pathol 31 (3), e12934 (2021)
   PUBMED   33378126
  REMARK    GeneRIF: Expanding the spectrum of EWSR1-PATZ1 rearranged CNS
            tumors: An infantile case with leptomeningeal dissemination.
REFERENCE   3  (residues 1 to 641)
  AUTHORS   Michal M, Rubin BP, Agaimy A, Kosemehmetoglu K, Rudzinski ER, Linos
            K, John I, Gatalica Z, Davis JL, Liu YJ, McKenney JK, Billings SD,
            Svajdler M, Koshyk O, Kinkor Z, Michalova K, Kalmykova AV, Yusifli
            Z, Ptakova N, Hajkova V, Grossman P, Steiner P and Michal M.
  TITLE     EWSR1-PATZ1-rearranged sarcoma: a report of nine cases of spindle
            and round cell neoplasms with predilection for thoracoabdominal
            soft tissues and frequent expression of neural and skeletal muscle
            markers
  JOURNAL   Mod Pathol 34 (4), 770-785 (2021)
   PUBMED   33012788
  REMARK    GeneRIF: EWSR1-PATZ1-rearranged sarcoma: a report of nine cases of
            spindle and round cell neoplasms with predilection for
            thoracoabdominal soft tissues and frequent expression of neural and
            skeletal muscle markers.
            Erratum:[Mod Pathol. 2021 Nov;34(11):2092. PMID: 34112958]
REFERENCE   4  (residues 1 to 641)
  AUTHORS   Andersen L, Gulich AF, Alteneder M, Preglej T, Orola MJ, Dhele N,
            Stolz V, Schebesta A, Hamminger P, Hladik A, Floess S, Krausgruber
            T, Faux T, Andrabi SBA, Huehn J, Knapp S, Sparwasser T, Bock C,
            Laiho A, Elo LL, Rasool O, Lahesmaa R, Sakaguchi S and Ellmeier W.
  TITLE     The Transcription Factor MAZR/PATZ1 Regulates the Development of
            FOXP3+ Regulatory T Cells
  JOURNAL   Cell Rep 29 (13), 4447-4459 (2019)
   PUBMED   31875552
  REMARK    GeneRIF: The Transcription Factor MAZR/PATZ1 Regulates the
            Development of FOXP3(+) Regulatory T Cells.
REFERENCE   5  (residues 1 to 641)
  AUTHORS   Aziati ID, Yoshida T, Hamano A, Maeda K, Takeuchi H and Yamaoka S.
  TITLE     PATZ1 is required for efficient HIV-1 infection
  JOURNAL   Biochem Biophys Res Commun 514 (2), 538-544 (2019)
   PUBMED   31060775
  REMARK    GeneRIF: It has been shown that PATZ1 is a novel regulator of HIV-1
            infection.
REFERENCE   6  (residues 1 to 641)
  AUTHORS   Mitchelmore C, Kjaerulff KM, Pedersen HC, Nielsen JV, Rasmussen TE,
            Fisker MF, Finsen B, Pedersen KM and Jensen NA.
  TITLE     Characterization of two novel nuclear BTB/POZ domain zinc finger
            isoforms. Association with differentiation of hippocampal neurons,
            cerebellar granule cells, and macroglia
  JOURNAL   J Biol Chem 277 (9), 7598-7609 (2002)
   PUBMED   11744704
  REMARK    GeneRIF: We report here the isolation and characterization of two
            novel nuclear BTB/POZ domain zinc finger isoformsthat are
            specifically expressed in early hippocampal neurons, cerebellar
            granule cells, and gliogenic progenitors as well as in
            differentiated glia
REFERENCE   7  (residues 1 to 641)
  AUTHORS   Pero R, Lembo F, Palmieri EA, Vitiello C, Fedele M, Fusco A, Bruni
            CB and Chiariotti L.
  TITLE     PATZ attenuates the RNF4-mediated enhancement of androgen
            receptor-dependent transcription
  JOURNAL   J Biol Chem 277 (5), 3280-3285 (2002)
   PUBMED   11719514
REFERENCE   8  (residues 1 to 641)
  AUTHORS   Mastrangelo T, Modena P, Tornielli S, Bullrich F, Testi MA,
            Mezzelani A, Radice P, Azzarelli A, Pilotti S, Croce CM, Pierotti
            MA and Sozzi G.
  TITLE     A novel zinc finger gene is fused to EWS in small round cell tumor
  JOURNAL   Oncogene 19 (33), 3799-3804 (2000)
   PUBMED   10949935
  REMARK    GeneRIF: The short isoform of the Zinc finger Sarcoma Gene (ZSG)
            was isolated as a RNF4 interacting protein.
REFERENCE   9  (residues 1 to 641)
  AUTHORS   Fedele M, Benvenuto G, Pero R, Majello B, Battista S, Lembo F,
            Vollono E, Day PM, Santoro M, Lania L, Bruni CB, Fusco A and
            Chiariotti L.
  TITLE     A novel member of the BTB/POZ family, PATZ, associates with the
            RNF4 RING finger protein and acts as a transcriptional repressor
  JOURNAL   J Biol Chem 275 (11), 7894-7901 (2000)
   PUBMED   10713105
REFERENCE   10 (residues 1 to 641)
  AUTHORS   Kobayashi A, Yamagiwa H, Hoshino H, Muto A, Sato K, Morita M,
            Hayashi N, Yamamoto M and Igarashi K.
  TITLE     A combinatorial code for gene expression generated by transcription
            factor Bach2 and MAZR (MAZ-related factor) through the BTB/POZ
            domain
  JOURNAL   Mol Cell Biol 20 (5), 1733-1746 (2000)
   PUBMED   10669750
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005003.2, AF119256.1,
            AF254083.1 and AL096880.1.
            
            Summary: The protein encoded by this gene contains an A-T hook DNA
            binding motif which usually binds to other DNA binding structures
            to play an important role in chromatin modeling and transcription
            regulation. Its Poz domain is thought to function as a site for
            protein-protein interaction and is required for transcriptional
            repression, and the zinc-fingers comprise the DNA binding domain.
            Since the encoded protein has typical features of a transcription
            factor, it is postulated to be a repressor of gene expression. In
            small round cell sarcoma, this gene is fused to EWS by a small
            inversion of 22q, then the hybrid is thought to be translocated
            (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves
            intron 8 of EWS and exon 1 of this gene creating a chimeric
            sequence containing the transactivation domain of EWS fused to zinc
            finger domain of this protein. This is a distinct example of an
            intra-chromosomal rearrangement of chromosome 22. Four
            alternatively spliced transcript variants are described for this
            gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an alternate segment in
            the 3' coding region, compared to variant 1. The resulting protein
            (long A isoform) maintains the same reading frame and is shorter
            when compared to the long C isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL096880.1, AF254083.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..641
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..641
                     /product="POZ-, AT hook-, and zinc finger-containing
                     protein 1 isoform long A"
                     /note="zinc finger protein 278; POZ-AT hook-zinc finger
                     protein; MAZ-related factor; POZ-, AT hook-, and zinc
                     finger-containing protein 1; BTB-POZ domain zinc finger
                     transcription factor; zinc finger sarcoma gene protein;
                     zinc finger and BTB domain-containing protein 19; protein
                     kinase A RI subunit alpha-associated protein"
                     /calculated_mol_wt=68949
     Region          14..162
                     /region_name="BTB_POZ_ZBTB19_PATZ1"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in POZ-, AT hook-,
                     and zinc finger-containing protein 1 (PATZ1); cd18207"
                     /db_xref="CDD:349516"
     Region          264..272
                     /region_name="A-T hook domain"
     Region          294..582
                     /region_name="Zn finger DNA binding domain"
     Region          294..314
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          357..377
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          357..377
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Site            order(362,364,366,368..369,372..373,376,390,392,396..397,
                     400..401,404,420,422,424,426..427,430..431)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          369..394
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          <379..436
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          385..405
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          415..433
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          442..467
                     /region_name="zf-C2H2_6"
                     /note="C2H2-type zinc finger; pfam13912"
                     /db_xref="CDD:433576"
     Region          444..464
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          470..489
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          492..558
                     /region_name="zf-C2H2_assoc3"
                     /note="Putative zinc-finger between two C2H2 zinc-fingers
                     on Patz; pfam16637"
                     /db_xref="CDD:435481"
     Region          561..582
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     CDS             1..641
                     /gene="PATZ1"
                     /gene_synonym="dJ400N23; MAZR; PATZ; RIAZ; ZBTB19; ZNF278;
                     ZSG"
                     /coded_by="NM_032050.2:745..2670"
                     /note="isoform long A is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS13895.1"
                     /db_xref="GeneID:23598"
                     /db_xref="HGNC:HGNC:13071"
                     /db_xref="MIM:605165"
ORIGIN      
        1 mervndascg psgcytyqvs rhstemlhnl nqqrknggrf cdvllrvgde sfpahravla
       61 acseyfesvf saqlgdggaa dggpadvgga taapgggagg srelemhtis skvfgdildf
      121 aytsrivvrl esfpelmtaa kfllmrsvie icqevikqsn vqilvppara dimlfrppgt
      181 sdlgfpldmt ngaalaansn giagsmqpee eaaraagaai agqaslpvlp gvdrlpmvag
      241 plspqlltsp fpsvassapp ltgkrgrgrp rkanlldsmf gspgglreag ilpcglcgkv
      301 ftdanrlrqh eaqhgvtslq lgyidlpppr lgenglpise dpdgprkrsr trkqvaceic
      361 gkifrdvyhl nrhklshsge kpyscpvcgl rfkrkdrmsy hvrshdgsvg kpyicqscgk
      421 gfsrpdhlng hikqvhtser phkcqtcnas fatrdrlrsh lachedkvpc qvcgkylraa
      481 ymadhlkkhs egpsnfcsic nregqkcshq dpiessdsyg dlsdasdlkt pekqsangsf
      541 scdmavpknk mesdgekkyp cpecgsffrs ksylnkhiqk vhvralggpl gdlgpalgsp
      601 fspqqnmsll esfgfqivqs afasslvdpe vdqqpmgpeg k
//
LOCUS       NP_001108585             645 aa            linear   PRI 17-MAR-2023
DEFINITION  WD repeat-containing protein 26 isoform b [Homo sapiens].
ACCESSION   NP_001108585
VERSION     NP_001108585.2
DBSOURCE    REFSEQ: accession NM_001115113.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 645)
  AUTHORS   Hu J, Xu M, Zhu X and Zhang Y.
  TITLE     Two Novel Variants of WDR26 in Chinese Patients with Intellectual
            Disability
  JOURNAL   Genes (Basel) 13 (5), 813 (2022)
   PUBMED   35627197
  REMARK    GeneRIF: Two Novel Variants of WDR26 in Chinese Patients with
            Intellectual Disability.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 645)
  AUTHORS   Sherpa D, Chrustowicz J, Qiao S, Langlois CR, Hehl LA, Gottemukkala
            KV, Hansen FM, Karayel O, von Gronau S, Prabu JR, Mann M, Alpi AF
            and Schulman BA.
  TITLE     GID E3 ligase supramolecular chelate assembly configures
            multipronged ubiquitin targeting of an oligomeric metabolic enzyme
  JOURNAL   Mol Cell 81 (11), 2445-2459 (2021)
   PUBMED   33905682
  REMARK    GeneRIF: GID E3 ligase supramolecular chelate assembly configures
            multipronged ubiquitin targeting of an oligomeric metabolic enzyme.
REFERENCE   3  (residues 1 to 645)
  AUTHORS   Pavinato L, Trajkova S, Grosso E, Giorgio E, Bruselles A, Radio FC,
            Pippucci T, Dimartino P, Tartaglia M, Petlichkovski A, De Rubeis S,
            Buxbaum J, Ferrero GB, Keller R and Brusco A.
  TITLE     Expanding the clinical phenotype of the ultra-rare
            Skraban-Deardorff syndrome: Two novel individuals with WDR26
            loss-of-function variants and a literature review
  JOURNAL   Am J Med Genet A 185 (6), 1712-1720 (2021)
   PUBMED   33675273
  REMARK    GeneRIF: Expanding the clinical phenotype of the ultra-rare
            Skraban-Deardorff syndrome: Two novel individuals with WDR26
            loss-of-function variants and a literature review.
REFERENCE   4  (residues 1 to 645)
  AUTHORS   Cospain A, Schaefer E, Faoucher M, Dubourg C, Carre W, Bizaoui V,
            Assoumani J, Van Maldergem L, Piton A, Gerard B, Tran Mau-Them F,
            Bruel AL, Faivre L, Demurger F, Pasquier L, Odent S, Fradin M and
            Lavillaureix A.
  TITLE     Skraban-Deardorff syndrome: Six new cases of WDR26-related disease
            and expansion of the clinical phenotype
  JOURNAL   Clin Genet 99 (5), 732-739 (2021)
   PUBMED   33506510
  REMARK    GeneRIF: Skraban-Deardorff syndrome: Six new cases of WDR26-related
            disease and expansion of the clinical phenotype.
REFERENCE   5  (residues 1 to 645)
  AUTHORS   Hasegawa M, Parkos CA and Nusrat A.
  TITLE     WD40 Repeat Protein 26 Negatively Regulates Formyl Peptide
            Receptor-1 Mediated Wound Healing in Intestinal Epithelial Cells
  JOURNAL   Am J Pathol 190 (10), 2029-2038 (2020)
   PUBMED   32958140
  REMARK    GeneRIF: WD40 Repeat Protein 26 Negatively Regulates Formyl Peptide
            Receptor-1 Mediated Wound Healing in Intestinal Epithelial Cells.
REFERENCE   6  (residues 1 to 645)
  AUTHORS   Higa LA, Wu M, Ye T, Kobayashi R, Sun H and Zhang H.
  TITLE     CUL4-DDB1 ubiquitin ligase interacts with multiple WD40-repeat
            proteins and regulates histone methylation
  JOURNAL   Nat Cell Biol 8 (11), 1277-1283 (2006)
   PUBMED   17041588
REFERENCE   7  (residues 1 to 645)
  AUTHORS   Sawada S and Takei M.
  TITLE     Epstein-Barr virus etiology in rheumatoid synovitis
  JOURNAL   Autoimmun Rev 4 (2), 106-110 (2005)
   PUBMED   15722257
  REMARK    Review article
REFERENCE   8  (residues 1 to 645)
  AUTHORS   Zhu Y, Wang Y, Xia C, Li D, Li Y, Zeng W, Yuan W, Liu H, Zhu C, Wu
            X and Liu M.
  TITLE     WDR26: a novel Gbeta-like protein, suppresses MAPK signaling
            pathway
  JOURNAL   J Cell Biochem 93 (3), 579-587 (2004)
   PUBMED   15378603
  REMARK    GeneRIF: WDR26 may act as a negative regulator in MAPK signaling
            pathway and play an important role in cell signal transduction.
REFERENCE   9  (residues 1 to 645)
  AUTHORS   Takei M, Ishiwata T, Mitamura K, Fujiwara S, Sasaki K, Nishi T,
            Kuga T, Ookubo T, Horie T, Ryu J, Ohi H and Sawada S.
  TITLE     Decreased expression of signaling lymphocytic-activation
            molecule-associated protein (SAP) transcripts in T cells from
            patients with rheumatoid arthritis
  JOURNAL   Int Immunol 13 (4), 559-565 (2001)
   PUBMED   11282995
REFERENCE   10 (residues 1 to 645)
  AUTHORS   Skraban,C.M., Grand,K.L. and Deardorff,M.A.
  TITLE     WDR26-Related Intellectual Disability
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31021590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099790.3, CN283908.1,
            BF509638.1, AY221751.1 and BU673957.1.
            On Nov 10, 2009 this sequence version replaced NP_001108585.1.
            
            Summary: This gene encodes a member of the WD repeat protein
            family. WD repeats are minimally conserved regions of approximately
            40 amino acids typically bracketed by gly-his and trp-asp (GH-WD),
            which may facilitate formation of heterotrimeric or multiprotein
            complexes. Members of this family are involved in a variety of
            cellular processes, including cell cycle progression, signal
            transduction, apoptosis, and gene regulation. Two transcript
            variants encoding two different isoforms have been found for this
            gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site at the end of an exon compared to variant 1. The
            resulting isoform (b) has the same N- and C-termini but is shorter
            compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY221751.1, SRR14038195.2288651.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..645
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.11-q42.12"
     Protein         1..645
                     /product="WD repeat-containing protein 26 isoform b"
                     /note="CUL4- and DDB1-associated WDR protein 2; myocardial
                     ischemic preconditioning upregulated protein 2; GID
                     complex subunit 7 homolog"
                     /calculated_mol_wt=70329
     Region          126..153
                     /region_name="LisH_TPL"
                     /note="LisH-like dimerisation domain; pfam17814"
                     /db_xref="CDD:375350"
     Region          156..215
                     /region_name="CTLH"
                     /note="C-terminal to LisH motif; smart00668"
                     /db_xref="CDD:128914"
     Region          333..625
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(338,356,360,366..367,383..384,402,406,414..415,427,
                     429,446,460,467..468,485,490,496..497,508..509,527,531,
                     537..538,550..551,571,576,582..583,595..596,615,619,625)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          343..383
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          388..426
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          434..468
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          472..517
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          526..594
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          600..625
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..645
                     /gene="WDR26"
                     /gene_synonym="CDW2; GID7; MIP2; SKDEAS"
                     /coded_by="NM_001115113.3:693..2630"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="GeneID:80232"
                     /db_xref="HGNC:HGNC:21208"
                     /db_xref="MIM:617424"
ORIGIN      
        1 mqangagggg gggggggggg gggggqgqtp elaclsaqng esspsssssa gdlahangll
       61 psapsaasnn snslnvnngv pggaaaassa tvaaasatta assslatpel gsslkkkkrl
      121 sqsdedvirl igqhlnglgl nqtvdllmqe sgcrlehpsa tkfrnhvmeg dwdkaendln
      181 elkplvhsph aivrmkflll qqkyleyled gkvlealqvl rceltplkyn terihvlsgy
      241 lmcshaedlr akaewegkgt asrsklldkl qtylppsvml pprrlqtllr qavelqrdrc
      301 lyhntkldnn ldsvsllidh vcsrrqfpcy tqqiltehcn evwfckfsnd gtklatgskd
      361 ttviiwqvdp dthllkllkt leghaygvsy iawspddnyl vacgpddcse lwlwnvqtge
      421 lrtkmsqshe dsltsvawnp dgkrfvtggq rgqfyqcdld gnlldswegv rvqclwclsd
      481 gktvlasdth qrirgynfed ltdrnivqed hpimsftisk ngrlallnva tqgvhlwdlq
      541 drvlvrkyqg vtqgfytihs cfgghnedfi asgsedhkvy iwhkrselpi aeltghtrtv
      601 ncvswnpqip smmasasddg tvriwgpapf idhqnieeec ssmds
//
LOCUS       NP_001372072             541 aa            linear   PRI 18-MAR-2023
DEFINITION  TNF receptor-associated factor 3 isoform 5 [Homo sapiens].
ACCESSION   NP_001372072
VERSION     NP_001372072.1
DBSOURCE    REFSEQ: accession NM_001385143.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 541)
  AUTHORS   Zheng W, Zhou Z, Rui Y, Ye R, Xia F, Guo F, Liu X, Su J, Lou M and
            Yu XF.
  TITLE     TRAF3 activates STING-mediated suppression of EV-A71 and target of
            viral evasion
  JOURNAL   Signal Transduct Target Ther 8 (1), 79 (2023)
   PUBMED   36823147
  REMARK    GeneRIF: TRAF3 activates STING-mediated suppression of EV-A71 and
            target of viral evasion.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 541)
  AUTHORS   Rae W, Sowerby JM, Verhoeven D, Youssef M, Kotagiri P, Savinykh N,
            Coomber EL, Boneparth A, Chan A, Gong C, Jansen MH, du Long R,
            Santilli G, Simeoni I, Stephens J, Wu K, Zinicola M, Allen HL,
            Baxendale H, Kumararatne D, Gkrania-Klotsas E, Scheffler Mendoza
            SC, Yamazaki-Nakashimada MA, Ruiz LB, Rojas-Maruri CM, Lugo Reyes
            SO, Lyons PA, Williams AP, Hodson DJ, Bishop GA, Thrasher AJ,
            Thomas DC, Murphy MP, Vyse TJ, Milner JD, Kuijpers TW and Smith
            KGC.
  TITLE     Immunodeficiency, autoimmunity, and increased risk of B cell
            malignancy in humans with TRAF3 mutations
  JOURNAL   Sci Immunol 7 (74), eabn3800 (2022)
   PUBMED   35960817
  REMARK    GeneRIF: Immunodeficiency, autoimmunity, and increased risk of B
            cell malignancy in humans with TRAF3 mutations.
REFERENCE   3  (residues 1 to 541)
  AUTHORS   Perez-Carretero C, Hernandez-Sanchez M, Gonzalez T, Quijada-Alamo
            M, Martin-Izquierdo M, Santos-Minguez S, Miguel-Garcia C, Vidal MJ,
            Garcia-De-Coca A, Galende J, Pardal E, Aguilar C, Vargas-Pabon M,
            Davila J, Gascon-Y-Marin I, Hernandez-Rivas JA, Benito R,
            Hernandez-Rivas JM and Rodriguez-Vicente AE.
  TITLE     TRAF3 alterations are frequent in del-3'IGH chronic lymphocytic
            leukemia patients and define a specific subgroup with adverse
            clinical features
  JOURNAL   Am J Hematol 97 (7), 903-914 (2022)
   PUBMED   35472012
  REMARK    GeneRIF: TRAF3 alterations are frequent in del-3'IGH chronic
            lymphocytic leukemia patients and define a specific subgroup with
            adverse clinical features.
REFERENCE   4  (residues 1 to 541)
  AUTHORS   Jin A, Zhang Q, Cheng H, Yang C and Wang X.
  TITLE     Circ_0050908 up-regulates TRAF3 by sponging miR-324-5p to aggravate
            myocardial ischemia-reperfusion injury
  JOURNAL   Int Immunopharmacol 108, 108740 (2022)
   PUBMED   35413678
  REMARK    GeneRIF: Circ_0050908 up-regulates TRAF3 by sponging miR-324-5p to
            aggravate myocardial ischemia-reperfusion injury.
REFERENCE   5  (residues 1 to 541)
  AUTHORS   Liu Y, Gokhale S, Jung J, Zhu S, Luo C, Saha D, Guo JY, Zhang H,
            Kyin S, Zong WX, White E and Xie P.
  TITLE     Mitochondrial Fission Factor Is a Novel Interacting Protein of the
            Critical B Cell Survival Regulator TRAF3 in B Lymphocytes
  JOURNAL   Front Immunol 12, 670338 (2021)
   PUBMED   34745083
  REMARK    GeneRIF: Mitochondrial Fission Factor Is a Novel Interacting
            Protein of the Critical B Cell Survival Regulator TRAF3 in B
            Lymphocytes.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 541)
  AUTHORS   Hsu H, Shu HB, Pan MG and Goeddel DV.
  TITLE     TRADD-TRAF2 and TRADD-FADD interactions define two distinct TNF
            receptor 1 signal transduction pathways
  JOURNAL   Cell 84 (2), 299-308 (1996)
   PUBMED   8565075
REFERENCE   7  (residues 1 to 541)
  AUTHORS   Cheng G, Cleary AM, Ye ZS, Hong DI, Lederman S and Baltimore D.
  TITLE     Involvement of CRAF1, a relative of TRAF, in CD40 signaling
  JOURNAL   Science 267 (5203), 1494-1498 (1995)
   PUBMED   7533327
REFERENCE   8  (residues 1 to 541)
  AUTHORS   Mosialos G, Birkenbach M, Yalamanchili R, VanArsdale T, Ware C and
            Kieff E.
  TITLE     The Epstein-Barr virus transforming protein LMP1 engages signaling
            proteins for the tumor necrosis factor receptor family
  JOURNAL   Cell 80 (3), 389-399 (1995)
   PUBMED   7859281
REFERENCE   9  (residues 1 to 541)
  AUTHORS   Sato T, Irie S and Reed JC.
  TITLE     A novel member of the TRAF family of putative signal transducing
            proteins binds to the cytosolic domain of CD40
  JOURNAL   FEBS Lett 358 (2), 113-118 (1995)
   PUBMED   7530216
REFERENCE   10 (residues 1 to 541)
  AUTHORS   Hu HM, O'Rourke K, Boguski MS and Dixit VM.
  TITLE     A novel RING finger protein interacts with the cytoplasmic domain
            of CD40
  JOURNAL   J Biol Chem 269 (48), 30069-30072 (1994)
   PUBMED   7527023
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL132801.5 and AL117209.7.
            
            Summary: The protein encoded by this gene is a member of the TNF
            receptor associated factor (TRAF) protein family. TRAF proteins
            associate with, and mediate the signal transduction from, members
            of the TNF receptor (TNFR) superfamily. This protein participates
            in the signal transduction of CD40, a TNFR family member important
            for the activation of the immune response. This protein is found to
            be a critical component of the lymphotoxin-beta receptor (LTbetaR)
            signaling complex, which induces NF-kappaB activation and cell
            death initiated by LTbeta ligation. Epstein-Barr virus encoded
            latent infection membrane protein-1 (LMP1) can interact with this
            and several other members of the TRAF family, which may be
            essential for the oncogenic effects of LMP1. The protein also plays
            a role in the regulation of antiviral response. Mutations in this
            are associated with Encephalopathy, acute, infection-induced,
            herpes-specific 5. [provided by RefSeq, Jul 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.1006222.1,
                                           SRR14372080.3791691.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in immune response or antiviral
                                   activity
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..541
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.32"
     Protein         1..541
                     /product="TNF receptor-associated factor 3 isoform 5"
                     /EC_number="2.3.2.27"
                     /note="CD40 binding protein; CD40 receptor associated
                     factor 1; CD40 associated protein 1; RING-type E3
                     ubiquitin transferase TRAF3; LMP1-associated protein 1"
                     /calculated_mol_wt=61363
     Region          51..92
                     /region_name="RING-HC_TRAF3"
                     /note="RING finger, HC subclass, found in tumor necrosis
                     factor (TNF) receptor-associated factor 3 (TRAF3) and
                     similar proteins; cd16640"
                     /db_xref="CDD:438302"
     Region          136..190
                     /region_name="zf-TRAF"
                     /note="TRAF-type zinc finger; pfam02176"
                     /db_xref="CDD:280357"
     Region          <225..>406
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          351..536
                     /region_name="MATH_TRAF3"
                     /note="Tumor Necrosis Factor Receptor (TNFR)-Associated
                     Factor (TRAF) family, TRAF3 subfamily, TRAF domain; TRAF
                     molecules serve as adapter proteins that link TNFRs and
                     downstream kinase cascades resulting in the activation of
                     transcription factors and the...; cd03777"
                     /db_xref="CDD:239746"
     Site            order(372,375,383,385,392,394,422..423,454,457,474)
                     /site_type="other"
                     /note="trimer interface [polypeptide binding]"
                     /db_xref="CDD:239746"
     Site            order(430,432,436,438,447,485,488,493,503..506)
                     /site_type="active"
                     /note="TNFR binding site [active]"
                     /db_xref="CDD:239746"
     CDS             1..541
                     /gene="TRAF3"
                     /gene_synonym="CAP-1; CAP1; CD40bp; CRAF1; IIAE5; LAP1;
                     RNF118"
                     /coded_by="NM_001385143.1:384..2009"
                     /note="isoform 5 is encoded by transcript variant 6"
                     /db_xref="GeneID:7187"
                     /db_xref="HGNC:HGNC:12033"
                     /db_xref="MIM:601896"
ORIGIN      
        1 messkkmdsp galqtnpplk lhtdrsagtp vfvpeqggyk ekfvktvedk ykcekchlvl
       61 cspkqtecgh rfcescmaal lsssspkcta cqesivkdkv fkdncckrei lalqiycrne
      121 srgcaeqlml ghllvhlknd chfeelpcvr pdckekvlrk dlrdhvekac kyreatcshc
      181 ksqvpmialq lsahlsecvn apstcsfkry gcvfqgtnqq ikaheassav qhvnllkews
      241 nslekkvsll qnesveknks iqslhnqics feieierqke mlrnneskil hlqrvidsqa
      301 eklkeldkei rpfrqnweea dsmkssvesl qnrvtelesv dksagqvarn tgllesqlsr
      361 hdqmlsvhdi rladmdlrfq vletasyngv liwkirdykr rkqeavmgkt lslysqpfyt
      421 gyfgykmcar vylngdgmgk gthlslffvi mrgeydallp wpfkqkvtlm lmdqgssrrh
      481 lgdafkpdpn sssfkkptge mniasgcpvf vaqtvlengt yikddtifik vivdtsdlpd
      541 p
//
LOCUS       NP_001309077             242 aa            linear   PRI 19-MAR-2023
DEFINITION  transport and Golgi organization protein 2 homolog isoform n [Homo
            sapiens].
ACCESSION   NP_001309077
VERSION     NP_001309077.1
DBSOURCE    REFSEQ: accession NM_001322148.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 242)
  AUTHORS   Heiman P, Mohsen AW, Karunanidhi A, St Croix C, Watkins S, Koppes
            E, Haas R, Vockley J and Ghaloul-Gonzalez L.
  TITLE     Mitochondrial dysfunction associated with TANGO2 deficiency
  JOURNAL   Sci Rep 12 (1), 3045 (2022)
   PUBMED   35197517
  REMARK    GeneRIF: Mitochondrial dysfunction associated with TANGO2
            deficiency.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 242)
  AUTHORS   Schymick J, Leahy P, Cowan T, Ruzhnikov MRZ, Gates R, Fernandez L,
            Pramanik G, Yarlagadda V, Wheeler M, Bernstein JA, Enns GM and Lee
            C.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     Variable clinical severity in TANGO2 deficiency: Case series and
            literature review
  JOURNAL   Am J Med Genet A 188 (2), 473-487 (2022)
   PUBMED   34668327
  REMARK    GeneRIF: Variable clinical severity in TANGO2 deficiency: Case
            series and literature review.
            Review article
REFERENCE   3  (residues 1 to 242)
  AUTHORS   Berat CM, Montealegre S, Wiedemann A, Nuzum MLC, Blondel A, Debruge
            H, Cano A, Chabrol B, Hoebeke C, Polak M, Stoupa A, Feillet F,
            Torre S, Boddaert N, Bruel H, Barth M, Damaj L, Abi-Warde MT,
            Afenjar A, Benoist JF, Madrange M, Caccavelli L, Renard P, Hubas A,
            Nusbaum P, Pontoizeau C, Gobin S, van Endert P, Ottolenghi C,
            Maltret A and de Lonlay P.
  TITLE     Clinical and biological characterization of 20 patients with TANGO2
            deficiency indicates novel triggers of metabolic crises and no
            primary energetic defect
  JOURNAL   J Inherit Metab Dis 44 (2), 415-425 (2021)
   PUBMED   32929747
  REMARK    GeneRIF: Clinical and biological characterization of 20 patients
            with TANGO2 deficiency indicates novel triggers of metabolic crises
            and no primary energetic defect.
REFERENCE   4  (residues 1 to 242)
  AUTHORS   Hoebeke C, Cano A, De Lonlay P and Chabrol B.
  TITLE     Clinical phenotype associated with TANGO2 gene mutation
  JOURNAL   Arch Pediatr 28 (1), 80-86 (2021)
   PUBMED   33342685
  REMARK    GeneRIF: Clinical phenotype associated with TANGO2 gene mutation.
REFERENCE   5  (residues 1 to 242)
  AUTHORS   Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Kupper C,
            Muhlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R,
            Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R,
            Meitinger T, Klopstock T, Prokisch H and Haack TB.
  TITLE     Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset
            Recurrent Metabolic Crises with Encephalocardiomyopathy
  JOURNAL   Am J Hum Genet 98 (2), 358-362 (2016)
   PUBMED   26805782
REFERENCE   6  (residues 1 to 242)
  AUTHORS   Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu
            W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T,
            Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK,
            Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G,
            Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H,
            Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J,
            Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B,
            Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski
            JR and Yang Y.
  TITLE     Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises,
            and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
  JOURNAL   Am J Hum Genet 98 (2), 347-357 (2016)
   PUBMED   26805781
  REMARK    GeneRIF: Exons 3-9 heterozygous deletion in TANGO2 are recurrent
            pathogenic alleles present in the Latino/Hispanic and European
            populations, respectively, causing considerable morbidity in the
            homozygotes in these populations.
REFERENCE   7  (residues 1 to 242)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   8  (residues 1 to 242)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Behal A, Touchman JW, Bouffard G,
            Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and
            splice variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 242)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   10 (residues 1 to 242)
  AUTHORS   Miyake,C.Y., Burrage,L., Glinton,K., Houck,K., Hoyos-Martinez,A.,
            Graham,B., Yang,Y., Rawls-Castillo,B., Scaglia,F., Soler-Alfonso,C.
            and Lalani,S.R.
  TITLE     TANGO2 Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29369572
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK316056.1, AC006547.9 and
            BM048105.1.
            
            Summary: This gene belongs to the transport and Golgi organization
            family, whose members are predicted to play roles in secretory
            protein loading in the endoplasmic reticulum. Depletion of this
            gene in Drosophila S2 cells causes fusion of the Golgi with the ER.
            In mouse tissue culture cells, this protein co-localizes with a
            mitochondrially targeted mCherry protein and displays very low
            levels of co-localization with Golgi and peroxisomes. Allelic
            variants of this gene are associated with rhabdomyolysis, metabolic
            crises with encephalopathy, and cardiac arrhythmia. [provided by
            RefSeq, Apr 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.2270951.1,
                                           SRR1803611.192816.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     Protein         1..242
                     /product="transport and Golgi organization protein 2
                     homolog isoform n"
                     /note="transport and Golgi organization protein 2 homolog"
                     /calculated_mol_wt=26223
     Region          <55..225
                     /region_name="TANGO2"
                     /note="Transport and Golgi organisation 2; pfam05742"
                     /db_xref="CDD:428613"
     CDS             1..242
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /coded_by="NM_001322148.2:484..1212"
                     /note="isoform n is encoded by transcript variant 22"
                     /db_xref="GeneID:128989"
                     /db_xref="HGNC:HGNC:25439"
                     /db_xref="MIM:616830"
ORIGIN      
        1 maghqhtwqa gsthqlpaaa aglagprarg phisvpgrra hacscghsic plptgelvth
       61 flttdvdsls ylkkvsmegh lyngfnliaa dlstakgdvi cyygnrgepd pivltpgtyg
      121 lsnalletpw rklcfgkqlf leaversqal pkdvliasll dvlnneeaql pdpaiedqgg
      181 eyvqpmlsky aavcvrcpgy gtrtntiilv dadghvtfte rsmmdkdlsh wetrtyeftl
      241 qs
//
LOCUS       XP_047280619             264 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C10orf82 isoform X4 [Homo sapiens].
ACCESSION   XP_047280619
VERSION     XP_047280619.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424663.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..264
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..264
                     /product="uncharacterized protein C10orf82 isoform X4"
                     /calculated_mol_wt=29719
     CDS             1..264
                     /gene="C10orf82"
                     /coded_by="XM_047424663.1:214..1008"
                     /db_xref="GeneID:143379"
                     /db_xref="HGNC:HGNC:28500"
ORIGIN      
        1 mepsktfmrn lpitpgysgf vpflscqgms keddmnhcvk tfqektqryk eqlrelccav
       61 atapklkpvn seetvlqalh qynlqyhpli leckyvkkpl qeppipgwag ylprakvtef
      121 gcgtrytvma kncykdflei terakkahlk pyeeiygvss tktsapspkv lqheellpky
      181 pdfsipagtl tslsnhpyae eitapgtmrp lsstqkcaep heaaswasev fskariftwt
      241 cwapmipwve vrrqqttagp vtla
//
LOCUS       XP_047281604             577 aa            linear   PRI 20-MAR-2023
DEFINITION  protein artemis isoform X1 [Homo sapiens].
ACCESSION   XP_047281604
VERSION     XP_047281604.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425648.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..577
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..577
                     /product="protein artemis isoform X1"
                     /calculated_mol_wt=65200
     Region          <7..56
                     /region_name="metallo-hydrolase-like_MBL-fold"
                     /note="mainly hydrolytic enzymes and related proteins
                     which carry out various biological functions; MBL-fold
                     metallohydrolase domain; cl23716"
                     /db_xref="CDD:451500"
     Region          124..230
                     /region_name="DRMBL"
                     /note="DNA repair metallo-beta-lactamase; pfam07522"
                     /db_xref="CDD:429512"
     CDS             1..577
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /coded_by="XM_047425648.1:232..1965"
                     /db_xref="GeneID:64421"
                     /db_xref="HGNC:HGNC:17642"
                     /db_xref="MIM:605988"
ORIGIN      
        1 mkhqerflfq gnngtvlytg dfrlaqgeaa rmellhsggr vkdiqsvyld ttfcdprfyq
       61 ipsreeclsg vlelvrswit rspyhvvwln ckaaygyeyl ftnlseelgv qvhvnkldmf
      121 rnmpeilhhl ttdrntqiha crhpkaeeyf qwsklpcgit srnriplhii sikpstmwfg
      181 ersrktnviv rtgessyrac fsfhssysei kdflsylcpv naypnvipvg ttmdkvveil
      241 kplcrssqst epkykplgkl krartvhrds eeeddylfdd plpiplrhkv pypetfhpev
      301 fsmtavsekq peklrqtpgc craecmqssr ftnfvdcees nseseeevgi paslqgdlgs
      361 vlhlqkadgd vpqwevffkr ndeitdesle nfpsstvagg sqspklfsds dgesthissq
      421 nssqsthite qgsqgwdsqs dtvllssqer nsgditsldk adyrptiken ipaslmeqnv
      481 icpkdtysdl ksrdkdvtiv pstgepttls sethipeeks llnlstnads qsssdfevps
      541 tpeaelpkre hlqylyekla tgesiavkkr kcslldt
//
LOCUS       XP_016873609             512 aa            linear   PRI 20-MAR-2023
DEFINITION  matrix metalloproteinase-27 isoform X1 [Homo sapiens].
ACCESSION   XP_016873609
VERSION     XP_016873609.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017018120.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..512
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..512
                     /product="matrix metalloproteinase-27 isoform X1"
                     /calculated_mol_wt=58838
     Region          26..86
                     /region_name="PG_binding_1"
                     /note="Putative peptidoglycan binding domain; pfam01471"
                     /db_xref="CDD:426277"
     Region          106..261
                     /region_name="Peptidase_M10"
                     /note="Matrixin; pfam00413"
                     /db_xref="CDD:425668"
     Region          275..464
                     /region_name="HX"
                     /note="Hemopexin-like repeats.; Hemopexin is a
                     heme-binding protein that transports heme to the liver.
                     Hemopexin-like repeats occur in vitronectin and some
                     matrix metalloproteinases family (matrixins). The HX
                     repeats of some matrixins bind tissue inhibitor of...;
                     cd00094"
                     /db_xref="CDD:238046"
     Site            order(285,287,329,331,376,378,425,427)
                     /site_type="metal-binding"
                     /note="Metal binding sites [ion binding]"
                     /db_xref="CDD:238046"
     CDS             1..512
                     /gene="MMP27"
                     /gene_synonym="MMP-27"
                     /coded_by="XM_017018120.2:56..1594"
                     /db_xref="GeneID:64066"
                     /db_xref="HGNC:HGNC:14250"
                     /db_xref="MIM:618101"
ORIGIN      
        1 mkrllllflf fitfssafpl vrmteneenm qlaqaylnqf ysleiegnhl vqsknrslid
       61 dkiremqaff gltvtgklds ntleimktpr cgvpdvgqyg ytlpgwrkyn ltyriinytp
      121 dmaraavdea iqeglevwsk vtplkftkis kgiadimiaf rtrvhgrcpr yfdgplgvlg
      181 hafppgpglg gdthfdeden wtkdgagfnl flvaahefgh alglshsndq talmfpnyvs
      241 ldprkyplsq ddingiqsiy glpkepakpk eptiphacdp dltfdaittf rrevmffkgr
      301 hlwriyydit dvefeliasf wpslpadlqa ayenprdkil vfkdenfwmi rgyavlpdyp
      361 ksihtlgfpg rvkkidaavc dkttrktyff vgiwcwrfde mtqtmdkgfp qrvvkhfpgi
      421 sirvdaafqy kgffffsrgs kqfeydiktk nitrimrtnt wfqckepkns sfgfdinkek
      481 ahsggikily hkslslfifg ivhllkntsi yq
//
LOCUS       XP_047285112             178 aa            linear   PRI 20-MAR-2023
DEFINITION  LIM domain only protein 3 isoform X4 [Homo sapiens].
ACCESSION   XP_047285112
VERSION     XP_047285112.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429156.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..178
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..178
                     /product="LIM domain only protein 3 isoform X4"
                     /calculated_mol_wt=20234
     Region          24..>60
                     /region_name="LIM"
                     /note="LIM is a small protein-protein interaction domain,
                     containing two zinc fingers; cl02475"
                     /db_xref="CDD:413332"
     Region          110..164
                     /region_name="LIM2_LMO1_LMO3"
                     /note="The second LIM domain of LMO1 and LMO3 (LIM domain
                     only protein 1 and 3); cd09389"
                     /db_xref="CDD:188775"
     Site            order(110,113,132,135,138,141,160,163)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188775"
     CDS             1..178
                     /gene="LMO3"
                     /gene_synonym="RBTN3; RBTNL2; Rhom-3; RHOM3"
                     /coded_by="XM_047429156.1:491..1027"
                     /db_xref="GeneID:55885"
                     /db_xref="HGNC:HGNC:6643"
                     /db_xref="MIM:180386"
ORIGIN      
        1 mqkkeksfgi qmlsvqpdtk pkgcagcnrk ikdryllkal dkywhedclk caccdcrlge
       61 hlkrcgsiyi haahteigic vtlewplpfv iidfsqqiti awlfgvtgnc aacsklipaf
      121 emvmrakdnv yhldcfacql cnqrfcvgdk fflknnmilc qtdyeeglmk egyapqvr
//
LOCUS       XP_047289639             165 aa            linear   PRI 20-MAR-2023
DEFINITION  deoxyribonuclease-1 isoform X6 [Homo sapiens].
ACCESSION   XP_047289639
VERSION     XP_047289639.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433683.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..165
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..165
                     /product="deoxyribonuclease-1 isoform X6"
                     /calculated_mol_wt=17634
     Region          <64..165
                     /region_name="EEP"
                     /note="Exonuclease-Endonuclease-Phosphatase (EEP) domain
                     superfamily; cl00490"
                     /db_xref="CDD:444936"
     CDS             1..165
                     /gene="DNASE1"
                     /gene_synonym="DNL1; DRNI"
                     /coded_by="XM_047433683.1:92..589"
                     /db_xref="GeneID:1773"
                     /db_xref="HGNC:HGNC:2956"
                     /db_xref="MIM:125505"
ORIGIN      
        1 mhqtpittws vshwdgtair satcsctglt rclrwtattt mmaaspagtt pstesqplsg
       61 sspgsqdvml mgdfnagcsy vrpsqwssir lwtsptfqwl ipdsadttat pthcaydriv
      121 vagmllrgav vpdsalpfnf qaayglsdql aqaisdhypv evmlk
//
LOCUS       XP_047290179             669 aa            linear   PRI 20-MAR-2023
DEFINITION  protein arginine N-methyltransferase 7 isoform X7 [Homo sapiens].
ACCESSION   XP_047290179
VERSION     XP_047290179.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434223.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..669
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..669
                     /product="protein arginine N-methyltransferase 7 isoform
                     X7"
                     /calculated_mol_wt=75990
     Region          37..>186
                     /region_name="COG4076"
                     /note="Predicted RNA methylase [General function
                     prediction only]"
                     /db_xref="CDD:226562"
     CDS             1..669
                     /gene="PRMT7"
                     /gene_synonym="SBIDDS"
                     /coded_by="XM_047434223.1:165..2174"
                     /db_xref="GeneID:54496"
                     /db_xref="HGNC:HGNC:25557"
                     /db_xref="MIM:610087"
ORIGIN      
        1 mkifcsranp ttgsvewlee dehydyhqei arssyadmlh dkdrnvkyyq giraavsrvk
       61 drgqkalvld igtgtgllsm mavtagadfc yaievfkpma daavkivekn gfsdkikvin
      121 khstevtvgp egdmpcrani lvtelfdtel igegalpsye hahrhlveen ceavphratv
      181 yaqlvesgrm wswnklfpih vqtslgeqvi vppvdvescp gapsvcdiql nqvspadftv
      241 lsdvlpmfsi dfskqvsssa achsrrfepl tsgraqvvls wwdiemdpeg kikctmapfw
      301 ahsdpeemqw rdhwmqcvyf lpqeepvvqg salylvahhd dycvwyslqr tspeknervr
      361 qmrpvcdcqa hllwnrprfg eindqdrtdr yvqalrtifk anhledkini iekrpelltn
      421 edlqgrkvsl llgepfftts llpwhnlyfw yvrtavdqhl gpgamvmpqa aslhavvvef
      481 rdlwrirspc gdcegfdvhi mddmikrald fresreaeph plweypcrsl sepwqiltfd
      541 fqqpvplqpl caegtvelrr pgqshaavlw meyhltpect lstgllepad peggccwnph
      601 ckqavyffsp apdprallgg prtvsyavef hpdtgdiime frclasvlhq lvacqdlrld
      661 trqlsqsss
//
LOCUS       XP_011522346             412 aa            linear   PRI 20-MAR-2023
DEFINITION  growth arrest-specific protein 7 isoform X2 [Homo sapiens].
ACCESSION   XP_011522346
VERSION     XP_011522346.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011524044.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..412
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..412
                     /product="growth arrest-specific protein 7 isoform X2"
                     /calculated_mol_wt=47135
     Region          45..137
                     /region_name="WW_FCH_linker"
                     /note="Unstructured linker region between on GAS7 protein;
                     pfam16623"
                     /db_xref="CDD:435473"
     Region          150..382
                     /region_name="F-BAR_GAS7"
                     /note="The F-BAR (FES-CIP4 Homology and
                     Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific
                     protein 7; cd07649"
                     /db_xref="CDD:153333"
     Site            order(155,158,165,168..169,172,175..176,179..180,183,187,
                     190,194,217,220,316,320,345,349,352,355..356,359,363,366,
                     370,374,377..378,381)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153333"
     CDS             1..412
                     /gene="GAS7"
                     /coded_by="XM_011524044.4:163..1401"
                     /db_xref="GeneID:8522"
                     /db_xref="HGNC:HGNC:4169"
                     /db_xref="MIM:603127"
ORIGIN      
        1 mvppppgees qtvilppgwq sylspqgrry yvntttnett werpssspgi paspgshrss
       61 lpptvngyha sgtpahppet ahmsvrkstg dsqnlgsssp skkqskenti tincvtfphp
      121 dtmpeqqllk ptewsycdyf wadkkdpqgn gtvagfelll qkqlkgkqmq kemsefirer
      181 ikieedyakn laklsqnsla sqeegslgea waqvkkslad eaevhlkfsa klhsevekpl
      241 mnfrenfkkd mkkcdhhiad lrkqlasrya svekarkalt erqrdlemkt qqleiklsnk
      301 teedikkarr kstqagddlm rcvdlynqaq skwfeemvtt tlelerleve rvemirqhlc
      361 qytqlrhetd mfnqstvepv dqllrkvdpa kdrelwvreh ktgnirpvdm ei
//
LOCUS       XP_047299920             727 aa            linear   PRI 20-MAR-2023
DEFINITION  glycerol-3-phosphate dehydrogenase, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_047299920
VERSION     XP_047299920.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443964.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..727
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..727
                     /product="glycerol-3-phosphate dehydrogenase,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=80722
     Region          1..599
                     /region_name="DAO"
                     /note="FAD dependent oxidoreductase; cl40741"
                     /db_xref="CDD:454824"
     Region          627..689
                     /region_name="EFh"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     cd00051"
                     /db_xref="CDD:238008"
     Site            order(636,638,640,647,672,674,676,683)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238008"
     CDS             1..727
                     /gene="GPD2"
                     /gene_synonym="GDH2; GPDM; mGDH; mGPDH"
                     /coded_by="XM_047443964.1:1101..3284"
                     /db_xref="GeneID:2820"
                     /db_xref="HGNC:HGNC:4456"
                     /db_xref="MIM:138430"
ORIGIN      
        1 mafqkavkgt ilvgggalat vlglsqfahy rrkqmnlayv kaadcisepv nreppsreaq
       61 lltlqntsef dilvigggat gsgcaldavt rglktalver ddfssgtssr stklihggvr
      121 ylqkaimkld ieqyrmvkea lheranllei aphlsaplpi mlpvykwwql pyywvgikly
      181 dlvagsnclk ssyvlsksra lehfpmlqkd klvgaivyyd gqhndarmnl aialtaaryg
      241 aatanymevv sllkktdpqt gkvrvsgarc kdvltgqefd vrakcvinat gpftdsvrkm
      301 ddkdaaaicq psagvhivmp gyyspesmgl ldpatsdgrv ifflpwqkmt iagttdtptd
      361 vthhpipsee dinfilnevr nylscdvevr rgdvlaawsg irplvtdpks adtqsisrnh
      421 vvdisesgli tiaggkwtty rsmaedtina avkthnlkag psrtvglflq ggkdwsptly
      481 irlvqdygle sevaqhlaat ygdkafevak masvtgkrwp ivgvrlvsef pyieaevkyg
      541 ikeyactavd misrrtrlaf lnvqaaeeal privelmgre lnwddykkqe qletarkfly
      601 yemgyksrse qltdrseisl lpsdidrykk rfhkfdadqk gfitivdvqr vlesinvqmd
      661 entlheilne vdlnkngqve lneflqlmsa iqkgrvsgsr lailmktaee nldrrvpipv
      721 drscggl
//
LOCUS       XP_047297128             341 aa            linear   PRI 20-MAR-2023
DEFINITION  postacrosomal sheath WW domain-binding protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_047297128
VERSION     XP_047297128.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441172.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..341
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..341
                     /product="postacrosomal sheath WW domain-binding protein
                     isoform X1"
                     /calculated_mol_wt=34930
     Region          71..166
                     /region_name="PH-GRAM_WBP2"
                     /note="WW binding protein 2 (WB2) Pleckstrin
                     Homology-Glucosyltransferases, Rab-like GTPase activators
                     and Myotubularins (PH-GRAM) domain; cd13214"
                     /db_xref="CDD:275401"
     Region          <232..337
                     /region_name="PTZ00436"
                     /note="60S ribosomal protein L19-like protein;
                     Provisional"
                     /db_xref="CDD:185616"
     CDS             1..341
                     /gene="WBP2NL"
                     /gene_synonym="GRAMD7; PAWP"
                     /coded_by="XM_047441172.1:356..1381"
                     /db_xref="GeneID:164684"
                     /db_xref="HGNC:HGNC:28389"
                     /db_xref="MIM:610981"
ORIGIN      
        1 mspqggagrg cetrvsfeer peltggceqp gafggsvaal gclrlcwmrt gtgllkrspn
       61 velsfpqrse gsnvfsgrkt gtlfltsyrv ifitscsisd pmlsfmmpfd lmtnltveqp
      121 vfaanfikgt iqaapyggwe gqatfklvfr ngdaiefaql mvkaasaaar gfplrtlndw
      181 fssmgiyvit gegnmctpqm pcsvivygap pagygapppg ygappagyga qpvgnegppv
      241 gyraspvryg applgygapp agygapplgy gapplgygtp plgygapplg ygappagneg
      301 ppagyraspa gsgarpqest aaqapeneas lpsasssqvh s
//
LOCUS       XP_011511418             334 aa            linear   PRI 20-MAR-2023
DEFINITION  voltage-gated potassium channel subunit beta-1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_011511418
VERSION     XP_011511418.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011513116.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..334
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..334
                     /product="voltage-gated potassium channel subunit beta-1
                     isoform X3"
                     /calculated_mol_wt=37698
     Region          35..326
                     /region_name="AKR_SF"
                     /note="Aldo-keto reductase (AKR) superfamily; cl00470"
                     /db_xref="CDD:444925"
     Site            order(52,57,85,125,155..156,181,210..216,271,288..291,296,
                     299..300)
                     /site_type="active"
                     /db_xref="CDD:381296"
     Site            order(52,57,85,125)
                     /site_type="active"
                     /note="catalytic tetrad [active]"
                     /db_xref="CDD:381296"
     CDS             1..334
                     /gene="KCNAB1"
                     /gene_synonym="AKR6A3; hKvb3; hKvBeta3; KCNA1B; KV-BETA-1;
                     Kvb1.3"
                     /coded_by="XM_011513116.4:97..1101"
                     /db_xref="GeneID:7881"
                     /db_xref="HGNC:HGNC:6228"
                     /db_xref="MIM:601141"
ORIGIN      
        1 mqeeeipeqn qphfanqeak ftersddlpt fiflvaerlm tiayesgvnl fdtaevyaag
       61 kaevilgsii kkkgwrrssl vittklywgg kaeterglsr khiieglkgs lqrlqleyvd
      121 vvfanrpdsn tpmeeivram thvinqgmam ywgtsrwsam eimeaysvar qfnmippvce
      181 qaeyhlfqre kvevqlpely hkigvgamtw splacgiisg kygngvpess raslkcyqwl
      241 kerivseegr kqqnklkdls piaerlgctl pqlavawclr negvssvllg sstpeqlien
      301 lgaiqvlpkm tshvvneidn ilrnkpyskk dyrs
//
LOCUS       XP_011532567            1099 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium bicarbonate cotransporter 3 isoform X11 [Homo sapiens].
ACCESSION   XP_011532567
VERSION     XP_011532567.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534265.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1099
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1099
                     /product="sodium bicarbonate cotransporter 3 isoform X11"
                     /calculated_mol_wt=123722
     Region          122..1020
                     /region_name="Band_3_cyto"
                     /note="Band 3 cytoplasmic domain; cl26877"
                     /db_xref="CDD:452680"
     CDS             1..1099
                     /gene="SLC4A7"
                     /gene_synonym="NBC2; NBC3; NBCN1; SBC2; SLC4A6"
                     /coded_by="XM_011534265.3:259..3558"
                     /db_xref="GeneID:9497"
                     /db_xref="HGNC:HGNC:11033"
                     /db_xref="MIM:603353"
ORIGIN      
        1 meadgageqm rplltrvtsr gpdeeavvdl gktsstvntk fekeeleshr avyigvhvpf
       61 skesrrrhrh rghkhhhrrr kdkesdkedg respsydtps qrvqfilgte dddeehiphd
      121 lftemdelcy rdgeeyewke tarwlkfeed vedggdrwsk pyvatlslhs lfelrsciln
      181 gtvmldmras tldeiadmvl dnmiasgqld esirenvrea llkrhhhqne krftsriplv
      241 rsfadigkkh sdphllerng ilaspqsapg nldnsksgei kgngsggsre nstvdfskvd
      301 mnfmrkiptg aeasnvlvge vdflerpiia fvrlapavll tgltevpvpt rflflllgpa
      361 gkapqyheig rsiatlmtde ifhdvaykak drndllsgid efldqvtvlp pgewdpsiri
      421 eppksvpsqe krkipvfhng stptlgetpk eaahhagpel qrtgrlfggl ildikrkapf
      481 flsdfkdals lqclasilfl ycacmspvit fggllgeate grisaieslf gasltgiays
      541 lfagqpltil gstgpvlvfe kilykfcrdy qlsylslrts iglwtsflci vlvatdassl
      601 vcyitrftee afaaliciif iyealeklfd lgetyafnmh nnldkltsys cvcteppnps
      661 netlaqwkkd nitahniswr nltvseckkl rgvflgsacg hhgpyipdvl fwcvilfftt
      721 fflssflkqf ktkryfptkv rstisdfavf ltivimvtid ylvgvpspkl hvpekfepth
      781 pergwiispl gdnpwwtlli aaipallcti lifmdqqita viinrkehkl kkgagyhldl
      841 lmvgvmlgvc svmglpwfva atvlsishvn slkvesecsa pgeqpkflgi reqrvtglmi
      901 filmglsvfm tsvlkfipmp vlygvflymg vsslkgiqlf driklfgmpa khqpdliylr
      961 yvplwkvhif tviqltclvl lwvikvsaaa vvfpmmvlal vfvrklmdlc ftkrelswld
     1021 dlmpeskkkk eddkkkkeke eaermlqddd dtvhlpfegg sllqipvkal kyspdkpvsv
     1081 kisfedeprk kyvdaetsl
//
LOCUS       XP_047305302            1030 aa            linear   PRI 20-MAR-2023
DEFINITION  IQ motif and SEC7 domain-containing protein 1 isoform X10 [Homo
            sapiens].
ACCESSION   XP_047305302
VERSION     XP_047305302.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449346.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1030
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1030
                     /product="IQ motif and SEC7 domain-containing protein 1
                     isoform X10"
                     /calculated_mol_wt=115441
     Region          618..806
                     /region_name="Sec7"
                     /note="Sec7 domain; pfam01369"
                     /db_xref="CDD:426226"
     Site            order(709..716,748..761)
                     /site_type="active"
                     /note="active site/putative ARF binding site [active]"
                     /db_xref="CDD:238100"
     Region          838..967
                     /region_name="IQ_SEC7_PH"
                     /note="PH domain; pfam16453"
                     /db_xref="CDD:435346"
     CDS             1..1030
                     /gene="IQSEC1"
                     /gene_synonym="ARF-GEP100; ARFGEP100; BRAG2; GEP100;
                     IDDSSBA"
                     /coded_by="XM_047449346.1:276..3368"
                     /db_xref="GeneID:9922"
                     /db_xref="HGNC:HGNC:29112"
                     /db_xref="MIM:610166"
ORIGIN      
        1 masaaeppgq aaeylqeltr ivaaqqella rrrrrieele rqvarlsren agllerhrrh
       61 laacarrpdp gpgpgpqplg aipelggrrd ksegessrsv rssldtgssl stdrysvege
      121 apssetgtsl dspsaypqgp lvpgsslspd hyehtsvgay glysgppgqq qrtrrpklqh
      181 stsilrkqae eeaikrsrsl sesyelssdl qdkqvemler kyggrlvtrh aartiqtafr
      241 qyqmnknfer lrssmsenrm srrivlsnmr mqfsfegpek vhssyfegkq vsvtndgsql
      301 galvspecgd lsepttlksp apssdfadai teledafsrq vkslaesidd alncrslhte
      361 eapaldaara rdtepqtalh gmdhrkldem tasysdvtly ideeelsppl plsqagdrps
      421 stesdlrlra ggaapdywal ahkedkadtd tscrstpsle rqeqrlrveh lplltiepps
      481 dssvdlsdrs ergslkrqsa yerslggqqg spkhgphsga pkslpreepe lrprpprpld
      541 shlaingsan rqsksesdys dgdndsinst snsndtincs sesssrdslr eqtlskqtyh
      601 kearnswdsp afsndvirkr hyriglnlfn kkpekgvqyl iergfvpdtp vgvahfllqr
      661 kglsrqmige flgnrqkqfn rdvldcvvde mdfstmelde alrkfqahir vqgeaqkver
      721 lieafsqryc icnpgvvrqf rnpdtifila faiillntdm yspnvkperk mkledfiknl
      781 rgvddgedip remlmgiyer irkrelktne dhvsqvqkve klivgkkpig slhpglgcvl
      841 slphrrlvcy crlfevpdpn kpqklglhqr eiflfndllv vtkifqkkkn svtysfrqsf
      901 slygmqvllf enqyypngir ltssvpgadi kvlinfnapn pqdrkkftdd lresiaevqe
      961 mekhriesel ekqkgvvrps msqcsslkke sgngtlsrac lddsyasgeg lkrsalsssl
     1021 rdlseagvhh
//
LOCUS       XP_047306081             367 aa            linear   PRI 20-MAR-2023
DEFINITION  G protein-coupled receptor kinase 4 isoform X17 [Homo sapiens].
ACCESSION   XP_047306081
VERSION     XP_047306081.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047450125.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..367
                     /product="G protein-coupled receptor kinase 4 isoform X17"
                     /calculated_mol_wt=42128
     Region          1..259
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..367
                     /gene="GRK4"
                     /gene_synonym="GPRK2L; GPRK4; GRK4a; IT11"
                     /coded_by="XM_047450125.1:462..1565"
                     /db_xref="GeneID:2868"
                     /db_xref="HGNC:HGNC:4543"
                     /db_xref="MIM:137026"
ORIGIN      
        1 myackklqkk rikkrkgeam alnekrilek vqsrfvvsla yayetkdalc lvltimnggd
       61 lkfhiynlgn pgfdeqravf yaaelccgle dlqrerivyr dlkpenilld drghirisdl
      121 glateipegq rvrgrvgtvg ymapevvnne kytfspdwwg lgcliyemiq ghspfkkyke
      181 kvkweevdqr ikndteeyse kfsedaksic rmlltknpsk rlgcrgegaa gvkqhpvfkd
      241 infrrleanm leppfcpdph avyckdvldi eqfsvvkgiy ldtadedfya rfatgcvsip
      301 wqnemiesgc fkdinksese ealpldldkn ihtpvsrpnr gffyrlfrrg gcltmvpsek
      361 evepkqc
//
LOCUS       XP_047273926             311 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124900986 [Homo sapiens].
ACCESSION   XP_047273926
VERSION     XP_047273926.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417970.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..311
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..311
                     /product="uncharacterized protein LOC124900986"
                     /calculated_mol_wt=34083
     Region          <18..66
                     /region_name="rve"
                     /note="Integrase core domain; cl21549"
                     /db_xref="CDD:451305"
     Region          146..>258
                     /region_name="trimeric_dUTPase"
                     /note="Trimeric dUTP diphosphatases; cl00493"
                     /db_xref="CDD:444938"
     Site            order(198..200,212..214,217,221..222)
                     /site_type="active"
                     /db_xref="CDD:143638"
     CDS             1..311
                     /gene="LOC124900986"
                     /coded_by="XM_047417970.1:3196..4131"
                     /db_xref="GeneID:124900986"
ORIGIN      
        1 meraavcphq nrhllqicvc lscmeclihh hgilhsiasd qgtyftakev qqyvhalgih
       61 wsspyhfeaa glierwngll ksqlqhqlgd ntlqgwrrvl qkavyalnqc piygtvspia
      121 rihgsrnqgv evevapltit psgplekfll pvpatlrsag lkvlgpewrv lppghttmip
      181 lnwklilppg hfelllplsq qakkgvtvlp gvigldyqde islllilksv ysslpdggke
      241 eyawntgdpl gpllvlpcpv ikvngklqqp npsrtkndpy psgmkvwvtl pgtkpqpaev
      301 laeetqgiqn g
//
LOCUS       XP_047276384            1019 aa            linear   PRI 20-MAR-2023
DEFINITION  2-oxoglutarate dehydrogenase complex component E1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047276384
VERSION     XP_047276384.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420428.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1019
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1019
                     /product="2-oxoglutarate dehydrogenase complex component
                     E1 isoform X3"
                     /calculated_mol_wt=115383
     Region          49..1011
                     /region_name="sucA"
                     /note="2-oxoglutarate dehydrogenase E1 component;
                     Reviewed; PRK09404"
                     /db_xref="CDD:236499"
     CDS             1..1019
                     /gene="OGDH"
                     /gene_synonym="AKGDH; E1k; E1o; KGD1; OGDC; OGDH-E1;
                     OGDH2; OGDHD"
                     /coded_by="XM_047420428.1:166..3225"
                     /db_xref="GeneID:4967"
                     /db_xref="HGNC:HGNC:8124"
                     /db_xref="MIM:613022"
ORIGIN      
        1 mfhlrtcaak lrpltasqtv ktfsqnrpaa artfqqircy sapvaaepfl sgtssnyvee
       61 mycawlenpk svhkswdiff rntnagappg tayqsplpls rgslaavaha qslveaqpnv
      121 dklvedhlav qslirayqvr ghhiakldpl giscvnfdda pvtvssnvgf ygldesdldk
      181 vfhlptttfi ggqesalplr eiirrlemay cqhigvefmf indleqcqwi rqkfetpgim
      241 qftneekrtl larlvrstrf eeflqrkwss ekrfglegce vlipalktii dkssengvdy
      301 vimgmphrgr lnvlanvirk eleqifcqfd skleaadegs gdvkyhlgmy hrrinrvtdr
      361 nitlslvanp shleaadpvv mgktkaeqfy cgdtegkkvm sillhgdaaf agqgivyetf
      421 hlsdlpsytt hgtvhvvvnn qigfttdprm arsspyptdv arvvnapifh vnsddpeavm
      481 yvckvaaewr stfhkdvvvd lvcyrrnghn emdepmftqp lmykqirkqk pvlqkyaell
      541 vsqgvvnqpe yeeeiskydk iceeafarsk dekilhikhw ldspwpgfft ldgqprsmsc
      601 pstgltedil thignvassv pvenftihgg lsrilktrge mvknrtvdwa laeymafgsl
      661 lkegihirls gqdvergtfs hrhhvlhdqn vdkrtcipmn hlwpnqapyt vcnsslseyg
      721 vlgfelgfam aspnalvlwe aqfgdfhnta qciidqficp gqakwvrqng ivlllphgme
      781 gmgpehssar perflqmcnd dpdvlpdlke anfdinqlyd cnwvvvncst pgnffhvlrr
      841 qillpfrkpl iiftpksllr hpearssfde mlpgthfqrv ipedgpaaqn penvkrllfc
      901 tgkvyydltr erkardmvgq vaitrieqls pfpfdlllke vqkypnaela wcqeehknqg
      961 yydyvkprlr ttisrakpvw yagrdpaaap atgnkkthlt elqrlldtaf dldvfknfs
//
LOCUS       XP_047276399             699 aa            linear   PRI 20-MAR-2023
DEFINITION  dual specificity calcium/calmodulin-dependent 3',5'-cyclic
            nucleotide phosphodiesterase 1C isoform X5 [Homo sapiens].
ACCESSION   XP_047276399
VERSION     XP_047276399.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420443.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..699
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..699
                     /product="dual specificity calcium/calmodulin-dependent
                     3',5'-cyclic nucleotide phosphodiesterase 1C isoform X5"
                     /calculated_mol_wt=79301
     Region          82..142
                     /region_name="PDEase_I_N"
                     /note="3'5'-cyclic nucleotide phosphodiesterase
                     N-terminal; pfam08499"
                     /db_xref="CDD:430035"
     Region          227..455
                     /region_name="PDEase_I"
                     /note="3'5'-cyclic nucleotide phosphodiesterase;
                     pfam00233"
                     /db_xref="CDD:425542"
     Site            order(232,268..269,376)
                     /site_type="other"
                     /note="Zn2+ binding site [ion binding]"
                     /db_xref="CDD:238032"
     Site            269
                     /site_type="other"
                     /note="Mg2+ binding site [ion binding]"
                     /db_xref="CDD:238032"
     CDS             1..699
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /coded_by="XM_047420443.1:430..2529"
                     /db_xref="GeneID:5137"
                     /db_xref="HGNC:HGNC:8776"
                     /db_xref="MIM:602987"
ORIGIN      
        1 mesptkeiee fesnslkylq peqiekiwlr lrglrkykkt sqrlrslvkq lergeasvvd
       61 lkknleyaat vlesvyidet rrlldtedel sdiqsdavps evrdwlastf trqmgmmlrr
      121 sdekprfksi vhavqagifv ermyrrtsnm vglsyppavi ealkdvdkws fdvfslneas
      181 gdhalkfify elltrydlis rfkipisalv sfvealevgy skhknpyhnl mhaadvtqtv
      241 hyllyktgva nwlteleifa iifsaaihdy ehtgttnnfh iqtrsdpail yndrsvlenh
      301 hlsaayrllq ddeemnilin lskddwrefr tlviemvmat dmschfqqik amktalqqpe
      361 aiekpkalsl mlhtadishp akawdlhhrw tmslleeffr qgdreaelgl pfsplcdrks
      421 tmvaqsqvgf idfiveptft vltdmtekiv splidetsqt ggtgqrrssl nsisssdakr
      481 sgvktsgseg sapinnsvis vdyksfkatw tevvhinrer wrakvpkeek akkeaeekar
      541 laaeeqqkem eaksqaeega sgkaekktsg etknqvngtr anksdnprgk nskaekssge
      601 qqqngdfkdg knktdkkdhs nigndskktd gtkqrshgsp apstsstcrl tlpgsllqfp
      661 wrslillegp ategedtpil fffrkeeymd alfpeafli
//
LOCUS       XP_047297743            1199 aa            linear   PRI 20-MAR-2023
DEFINITION  cohesin subunit SA-2 isoform X3 [Homo sapiens].
ACCESSION   XP_047297743
VERSION     XP_047297743.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441787.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1199
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1199
                     /product="cohesin subunit SA-2 isoform X3"
                     /calculated_mol_wt=138367
     Region          33..>326
                     /region_name="IRR1"
                     /note="Cohesin [Cell division and chromosome
                     partitioning]; COG5537"
                     /db_xref="CDD:227824"
     Region          88..196
                     /region_name="STAG"
                     /note="STAG domain; pfam08514"
                     /db_xref="CDD:430044"
     CDS             1..1199
                     /gene="STAG2"
                     /gene_synonym="bA517O1.1; HPE13; MKMS; NEDXCF; SA-2; SA2;
                     SCC3B"
                     /coded_by="XM_047441787.1:287..3886"
                     /db_xref="GeneID:10735"
                     /db_xref="HGNC:HGNC:11355"
                     /db_xref="MIM:300826"
ORIGIN      
        1 mnghhqqngv enmmlfevvk mgksamqsvv ddwiesykhd rdialldlin ffiqcsgckg
       61 vvtaemfrhm qnseiirkmt eefdedsgdy pltmagpqwk kfkssfcefi gvlvrqcqys
      121 iiydeymmdt vislltglsd sqvrafrhts tlaamklmta lvnvalnlsi nmdntqrqye
      181 aernkmigkr anerlelllq krkelqenqd eienmmnaif kgvfvhryrd aiaeiraici
      241 eeigiwmkmy sdaflndsyl kyvgwtmhdk qgevrlkclt alqglyynke lnsklelfts
      301 rfkdrivsmt ldkeydvavq aiklltlvlq sseevltaed cenvyhlvys ahrpvavaag
      361 eflykklfsr rdpeedgmmk rrgrqgpnan lvktlvfffl eselhehaay lvdsmwdcat
      421 ellkdwecmn sllleeplsg eealtdrqes alieimlcti rqaaechppv grgtgkrvlt
      481 akekktqldd rtkitelfav alpqllakys vdaekvtnll qlpqyfdlei yttgrlekhl
      541 dallrqirni vekhtdtdvl eacsktyhal cneeftifnr vdisrsqlid eladkfnrll
      601 edflqegeep deddayqvls tlkritafhn ahdlskwdlf acnykllktg iengdmpeqi
      661 vihalqcthy vilwqlakit essstkedll rlkkqmrvfc qicqhyltnv nttvkeqaft
      721 ilcdilmifs hqimsggrdm leplvytpds slqsellsfi ldhvfieqdd dnnsadgqqe
      781 deaskiealh krrnllaafc klivytvvem ntaadifkqy mkyyndygdi iketmsktrq
      841 idkiqcaktl ilslqqlfne miqengynfd rssstfsgik elarrfaltf gldqlktrea
      901 iamlhkdgie fafkepnpqg eshpplnlaf ldilsefssk llrqdkrtvy vylekfmtfq
      961 mslrredvwl plmsyrnsll aggdddtmsv isgissrgst vrskkskpst gkrkvvegmq
     1021 lslteessss dsmwlsreqt lhtpvmmqtp qltstimrep krlrpedsfm svypmqtehh
     1081 qtpldyntqv twmlaqrqqe earqqqeraa msyvklrtnl qhairrgtsl meddeepive
     1141 dvmmssegri edlnegmdfd tmdidlppsk nrrertelkp dffdpasimd esvlgvsmf
//
LOCUS       XP_047298125             630 aa            linear   PRI 20-MAR-2023
DEFINITION  plastin-3 isoform X1 [Homo sapiens].
ACCESSION   XP_047298125
VERSION     XP_047298125.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442169.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..630
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..630
                     /product="plastin-3 isoform X1"
                     /calculated_mol_wt=70680
     Region          16..82
                     /region_name="EFh"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     cd00051"
                     /db_xref="CDD:238008"
     Site            order(25,27,29,36,65,67,69,76)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238008"
     Region          101..245
                     /region_name="CH_PLS_rpt1"
                     /note="first calponin homology (CH) domain found in the
                     plastin family; cd21292"
                     /db_xref="CDD:409141"
     Site            order(125,129,192,194..195,198..199,201,210..218,223,
                     225..226,228..229,232..233,236)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409141"
     Region          254..375
                     /region_name="CH_PLS3_rpt2"
                     /note="second calponin homology (CH) domain found in
                     plastin-3; cd21328"
                     /db_xref="CDD:409177"
     Site            order(269,273,332,334..335,338..339,341,349..357,362,
                     364..365,367..368,371..372,375)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409177"
     Region          377..510
                     /region_name="CH_PLS3_rpt3"
                     /note="third calponin homology (CH) domain found in
                     plastin-3; cd21331"
                     /db_xref="CDD:409180"
     Site            order(399,403,458,460..461,464..465,467,477..485,490,
                     492..493,495..496,499..500,503)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409180"
     Region          519..630
                     /region_name="CH_PLS3_rpt4"
                     /note="fourth calponin homology (CH) domain found in
                     plastin-3; cd21334"
                     /db_xref="CDD:409183"
     Site            order(520,524,581,583..584,587..588,590,598..606,611,
                     613..614,616..617,620..621,624)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409183"
     CDS             1..630
                     /gene="PLS3"
                     /gene_synonym="BMND18; T-plastin"
                     /coded_by="XM_047442169.1:289..2181"
                     /db_xref="GeneID:5358"
                     /db_xref="HGNC:HGNC:9091"
                     /db_xref="MIM:300131"
ORIGIN      
        1 mdemattqis kdeldelkea fakvdlnsng ficdyelhel fkeanmplpg ykvreiiqkl
       61 mldgdrnkdg kisfdefvyi fqevkssdia ktfrkainrk egicalggts elssegtqhs
      121 yseeekyafv nwinkalend pdcrhvipmn pntddlfkav gdgivlckmi nlsvpdtide
      181 rainkkkltp fiiqenlnla lnsasaigch vvnigaedlr agkphlvlgl lwqiikiglf
      241 adielsrnea laallrdget leelmklspe elllrwanfh lensgwqkin nfsadikdsk
      301 ayfhllnqia pkgqkegepr idinmsgfne tddlkraesm lqqadklgcr qfvtpadvvs
      361 gnpklnlafv anlfnkypal tkpenqdidw tllegetree rtfrnwmnsl gvnphvnhly
      421 adlqdalvil qlyerikvpv dwskvnkppy pklganmkkl encnyavelg khpakfslvg
      481 iggqdlndgn qtltlalvwq lmrrytlnvl edlgdgqkan ddiivnwvnr tlseagksts
      541 iqsfkdktis sslavvdlid aiqpgcinyd lvksgnlted dkhnnakyav smarrigarv
      601 yalpedlvev kpkmvmtvfa clmgrgmkrv
//
LOCUS       XP_054185463             468 aa            linear   PRI 20-MAR-2023
DEFINITION  occludin isoform X2 [Homo sapiens].
ACCESSION   XP_054185463
VERSION     XP_054185463.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329488.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003315917.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..468
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     Protein         1..468
                     /product="occludin isoform X2"
                     /calculated_mol_wt=52561
     CDS             1..468
                     /gene="OCLN"
                     /gene_synonym="BLCPMG; PPP1R115; PTORCH1"
                     /coded_by="XM_054329488.1:180..1586"
                     /db_xref="GeneID:100506658"
                     /db_xref="HGNC:HGNC:8104"
                     /db_xref="MIM:602876"
ORIGIN      
        1 mssrplespp pyrpdefkpn hyapsndiyg gemhvrpmls qpaysfyped eilhfykwts
       61 ppgvirilsm liivmciaif acvastlawd rgygtsllgg svgypyggsg fgsygsgygy
      121 gygygygygg ytdpraakgf mlamaafcfi aalvifvtsv irsemsrtrr yylsviivsa
      181 ilgimvfiat ivyimgvnpt aqssgslygs qiyalcnqfy tpaatglyvd qylyhycvvd
      241 pqevknvsag tqdvpsppsd yvervdspma yssngkvndk rfypessyks tpvpevvqel
      301 pltspvddfr qpryssggnf etpskrapak gragrskrte qdhyetdytt ggescdelee
      361 dwireyppit sdqqrqlykr nfdtglqeyk slqseldein kelsrldkel ddyreeseey
      421 maaadeynrl kqvkgsadyk skknhckqln sklshikkmv gdydrqkt
//
LOCUS       XP_054184869             645 aa            linear   PRI 20-MAR-2023
DEFINITION  lamin tail domain-containing protein 2 isoform X11 [Homo sapiens].
ACCESSION   XP_054184869
VERSION     XP_054184869.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328894.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187586.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..645
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     Protein         1..645
                     /product="lamin tail domain-containing protein 2 isoform
                     X11"
                     /calculated_mol_wt=71527
     CDS             1..645
                     /gene="LMNTD2"
                     /gene_synonym="C11orf35"
                     /coded_by="XM_054328894.1:23..1960"
                     /db_xref="GeneID:256329"
                     /db_xref="HGNC:HGNC:28561"
ORIGIN      
        1 mrwlrpagrr reqesvsghl gppagapaap etptclpdtt phptpvvcsa dpqvccrcrl
       61 alesldprtl rllwrqrele iqalrwaiqn gedarlchil eevaglppkr sshsqekllq
      121 nqvqkliqel keqkeraqwa lseqekehle erllqttrtl qemeaelqnl qkscllqlar
      181 sswvgrmlrs qtgsvevvta etlmdpsdls eniqaptgeg frledvdwns varrypnlft
      241 nmepsskqkq prpwpqldtg spessgkhse rhhktvewgs lpclntsssg gadsdssscr
      301 pglpsfvqvi ghpprdhras seqalvqags ysrdsedlqk thsprhgepv lspqpctdpd
      361 hwspellqsp tglkivavsc rekfvrifnp sqestadlsg mvlkqlvrgf perlyrfppg
      421 tllaprhhvt vwgeatrsak kplrasssre pvpllsirgc atlllspkge vlsehriprr
      481 etpaprvfad gtdlsidrfp lpeagpgadt rkpprpprpl rkgrvreprv srrrpgtrgl
      541 lppvssgklf haregparpe npeipapqhl paipgdptlp sppaeaglgl edcrlqkehr
      601 vrvcrksvdr scplvalsvq ntaesrfgfr flsclpvtad tcrga
//
LOCUS       XP_054185135            1563 aa            linear   PRI 20-MAR-2023
DEFINITION  meiosis regulator and mRNA stability factor 1 isoform X13 [Homo
            sapiens].
ACCESSION   XP_054185135
VERSION     XP_054185135.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329160.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187607.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1563
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.12-12.3"
     Protein         1..1563
                     /product="meiosis regulator and mRNA stability factor 1
                     isoform X13"
                     /calculated_mol_wt=174051
     CDS             1..1563
                     /gene="MARF1"
                     /gene_synonym="KIAA0430; LKAP; LMKB; PPP1R34"
                     /coded_by="XM_054329160.1:207..4898"
                     /db_xref="GeneID:9665"
                     /db_xref="HGNC:HGNC:29562"
                     /db_xref="MIM:614593"
ORIGIN      
        1 mmegngtens csrtrgwlqq dndakpwlwk fsncfsrpeq tlphspqtke ymenkkvave
       61 lkdvpsplha gsklfpavpl pdirslqqpk iqlssvpkpa rnsiidaakv wpnipppntq
      121 paplavplcn gcgtkgtgke ttlllatslg kaaskfgspe vavagqvlen lppigvfwdi
      181 encsvpsgrs atavvqrire kffkghreae ficvcdiske nkeviqelnn cqvtvahina
      241 taknaaddkl rqslrrfant htapatvvlv stdvnfalel sdlrhrhgfh iilvhknqas
      301 eallhhanel irfeefisdl pprlplkmpc htllyvynlp ankdgksvsn rlrrlsdncg
      361 gkvlsitgcs ailrfinqds aeraqkrmen edvfgnriiv sftpknrelc etkssnaiad
      421 kvkspkklkn pklclikdas eqsssakatp gkgsqansgs atkntnvksl qelcrmeskt
      481 ghrnsehqqg hlrlvvpthg nssaavstpk nsgvaepvyk tsqkkenlsa rsvtsspvek
      541 kdkeetvfqv sypsafsklv asrqvsplla sqswsssrsm spnllnrasp lafniansss
      601 eadcpdpfan gadvqvsnid yrlsrkelqq llqeafarhg kvksvelsph tdyqlkavvq
      661 menlqdaiga vnslhrykig skkilvslat gaaskslsll saetmsvlqd apacclplfk
      721 ftdiyekkfg hklnvsdlyk ltdtvaireq gngrlvcllp ssqarqsplg ssqshdgsst
      781 ncspiifeel eyhepvcrqh csnkdfsehe fdpdsykipf vilslktfap qvhsllqthe
      841 gtvpllsfpd cyiaefgdle vvqenqggvp lehfitcvpg vniataqngi kvvkwihnkp
      901 pppntdpwll rskspvgnpq liqfsrevid llksqpscvi pishfipsyh hhfakqcrvs
      961 dygyskliel leavphvlqi lgmgskrllt lthraqvkrf tqdllkllks qaskqvivre
     1021 fsqayhwcfs kdwdvteygv celidivsei pdtticlsqq dnemvicipk rertqdeier
     1081 tkqfskdvvd llrhqphfrm pfnkfipsyh hhfgrqckla yygftkllel feaipdtlqv
     1141 lecgeekilt lteverfkal aaqfvkllrs qkdnclmmtd llteyaktfg ytfrlqdydv
     1201 ssisaltqkl chvvkvadie sgrqiqlinr kslrsltaql lvllmswegt thlsveelkr
     1261 hyesthntpl npceygfmtl tellkslpyl vevftndkme ecvkltslyl faknvrsllh
     1321 tyhyqqiflh efsmaytkyv getlqpktyg hssveellga ipqvvwikgh ghkrivvlkn
     1381 dmksrlssls lspanhenqp segerilevp eshtaselkl gadgsgpsht eqellrltdd
     1441 spvdllcapv psclpspqlr pdpvilqsad liqfeerpqe pseimilnqe ekmeipipgk
     1501 sktltsdsss scisaavpvp pcpssetses llskdpvesp akkqpknrvk laanfslapi
     1561 tkl
//
LOCUS       XP_054188495            1015 aa            linear   PRI 20-MAR-2023
DEFINITION  BLOC-2 complex member HPS5 isoform X7 [Homo sapiens].
ACCESSION   XP_054188495
VERSION     XP_054188495.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332520.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_021160006.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1015
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     Protein         1..1015
                     /product="BLOC-2 complex member HPS5 isoform X7"
                     /calculated_mol_wt=114695
     CDS             1..1015
                     /gene="HPS5"
                     /gene_synonym="AIBP63; BLOC2S2"
                     /coded_by="XM_054332520.1:434..3481"
                     /db_xref="GeneID:11234"
                     /db_xref="HGNC:HGNC:17022"
                     /db_xref="MIM:607521"
ORIGIN      
        1 myvssehkgr rvtalcwdta ilrvfvgdha gkvsaiklnt skqakaaaaf vmfpvqtitt
       61 vdscvvqldy ldgrllissl trsflcdter ekfwkignke rdgeygacff pgrcsggqqp
      121 liycarpgsr mwevnfdgev isthqfkkll slpplpvitl rsepqydhta gssqslsfpk
      181 llhlsehcvl twtergiyif ipqnvqvllw sevkdiqdva vcrnelfclh lngkvshlsl
      241 isvercverl lrrglwnlaa rtcclfqnsv iasrarktlt adklehlksq ldhgtyndli
      301 sqleelilkf epldsacssr rssisshesf sildsgiyri issrrgsqsd edscslhsqt
      361 lsederfkef tsqqeedlpd qccgshgned nvshapvmfe tdknetflpf giplpfrsps
      421 plvslqavke svssfvrktt ekigtlhtsp dlkvrpelrg deqsceedvs sdtcpkeedt
      481 eeekevtspp peedrfqelk vataeamtkl qdplvlfese slrmvlqewl shlektfamk
      541 dfsgvsdtdn ssmklnqdvl lvneskkgil dednekekrd slgneesvdk tacecvrspr
      601 eslddlfqic spcaiasglr ndlaelttlc lelnvlnski kstsghvdht lqqyspeila
      661 cqflkkyffl lnlkrakesi klsysnspsv wdtfieglke massnpvyme mekgdlptrl
      721 kllddevpfd spllvvyatr lyekfgesal rslikffpsi lpsdiiqlch hhpaeflayl
      781 dslvksrped qrssflesll qpeslrldwl llavsldapp ststmddegy prphshllsw
      841 gysqlilhli klpadfitke kmtdicrscg fwpgylilcl elerrreaft nivylndmsl
      901 megdngwipe tveewklllh liqskstrpa pqeslngsls dgpspinven valllakamg
      961 pdrawsllqe cglalelsek ftrtcdilri aekrqraliq smlekcdrfl wsqqa
//
LOCUS       XP_054187764             737 aa            linear   PRI 20-MAR-2023
DEFINITION  amyloid-beta A4 precursor protein-binding family A member 2 isoform
            X3 [Homo sapiens].
ACCESSION   XP_054187764
VERSION     XP_054187764.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331789.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_011332701.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..737
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.1-13.3"
     Protein         1..737
                     /product="amyloid-beta A4 precursor protein-binding family
                     A member 2 isoform X3"
                     /calculated_mol_wt=80999
     CDS             1..737
                     /gene="APBA2"
                     /gene_synonym="D15S1518E; HsT16821; LIN-10; MGC:14091;
                     MINT2; X11-BETA; X11L"
                     /coded_by="XM_054331789.1:464..2677"
                     /db_xref="GeneID:321"
                     /db_xref="HGNC:HGNC:579"
                     /db_xref="MIM:602712"
ORIGIN      
        1 mahrklesvg sgmldhrvrp gpvphsqepe sedmelpleg yvpeglelaa lrpespapee
       61 qechnhspdg dsssdyvnnt seeedydegl peeeegityy irycpeddsy legmdcngee
      121 ylahsahpvd tdecqeavee wtdsagphph gheaegsqdy pdgqlpiped epsvleahdq
      181 eedghycask egyqdyypee angntgaspy rlrrgdgdle dqeedidqiv aeikmslsmt
      241 sitsaseasp ehgpepgped sveacppika scspsrhear pkslnllpea khpgdpqrgf
      301 kpktrtpeer lkwpheqvcn gleqprkqqr sdlngpvdnn nipetkkvas fpsfvavpgp
      361 cepedlidgi ifaanylgst qllsernpsk nirmmqaqea vsrvknsegd aqtltevdlf
      421 istqrikvln adtqetmmdh alrtisyiad ignivvlmar rrmprsasqd ciettpgaqe
      481 gkkqykmich vfesedaqli aqsigqafsv ayqeflrang inpedlsqke ysdiintqem
      541 ynddlihfsn senckelqle khkgeilgvv vvesgwgsil ptvilanmmn ggpaarsgkl
      601 sigdqimsin gtslvglpla tcqgiikglk nqtqvklniv scppvttvli krpdlkyqlg
      661 fsvqngiics lmrggiaerg gvrvghriie ingqsvvata hekivqalsn svgeihmktm
      721 paamfrlltg qetplyi
//
LOCUS       XP_054189270             562 aa            linear   PRI 20-MAR-2023
DEFINITION  proto-oncogene tyrosine-protein kinase Src isoform X3 [Homo
            sapiens].
ACCESSION   XP_054189270
VERSION     XP_054189270.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333295.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791812) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..562
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     Protein         1..562
                     /product="proto-oncogene tyrosine-protein kinase Src
                     isoform X3"
                     /calculated_mol_wt=62164
     CDS             1..562
                     /gene="SRC"
                     /gene_synonym="ASV; c-SRC; p60-Src; SRC1; THC6"
                     /coded_by="XM_054333295.1:751..2439"
                     /db_xref="GeneID:6714"
                     /db_xref="HGNC:HGNC:11283"
                     /db_xref="MIM:190090"
ORIGIN      
        1 mggreagqga paalpvpvss lspartmgsn kskpkdasqr rrslepaenv hgagggafpa
       61 sqtpskpasa dghrgpsaaf apaaaepklf ggfnssdtvt spqragplag gvttfvalyd
      121 yesrtetdls fkkgerlqiv nntegdwwla hslstgqtgy ipsnyvapsd siqaeewyfg
      181 kitrreserl llnaenprgt flvresettk gayclsvsdf dnakglnvkh ykirkldsgg
      241 fyitsrtqfn slqqlvayys khadglchrl ttvcptskpq tqglakdawe ipreslrlev
      301 klgqgcfgev wmgtwngttr vaiktlkpgt mspeaflqea qvmkklrhek lvqlyavvse
      361 epiyivteym skgslldflk getgkylrlp qlvdmaaqia sgmayvermn yvhrdlraan
      421 ilvgenlvck vadfglarli edneytarqg akfpikwtap eaalygrfti ksdvwsfgil
      481 ltelttkgrv pypgmvnrev ldqvergyrm pcppecpesl hdlmcqcwrk epeerptfey
      541 lqafledyft stepqyqpge nl
//
LOCUS       XP_054190193             498 aa            linear   PRI 20-MAR-2023
DEFINITION  dual specificity protein kinase CLK2 isoform X1 [Homo sapiens].
ACCESSION   XP_054190193
VERSION     XP_054190193.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334218.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..498
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..498
                     /product="dual specificity protein kinase CLK2 isoform X1"
                     /calculated_mol_wt=59872
     CDS             1..498
                     /gene="CLK2"
                     /coded_by="XM_054334218.1:305..1801"
                     /db_xref="GeneID:1196"
                     /db_xref="HGNC:HGNC:2069"
                     /db_xref="MIM:602989"
ORIGIN      
        1 mphprryhss ergsrgsyre hyrsrkhkrr rsrswssssd rtrrrrreds yhvrsrsydd
       61 rssdrrvydr rycgsyrrnd ysrdrgdayy dtdyrhsyey qrenssyrsq rssrrkhrrr
      121 rrrsrtfsrs ssqhssrrak sveddaeghl iyhvgdwlqe ryeivstlge gtfgrvvqcv
      181 dhrrggarva lkiiknveky keaarleinv lekinekdpd nknlcvqmfd wfdyhghmci
      241 sfellglstf dflkdnnylp ypihqvrhma fqlcqavkfl hdnklthtdl kpenilfvns
      301 dyeltynlek krdersvkst avrvvdfgsa tfdhehhsti vstrhyrape vilelgwsqp
      361 cdvwsigcii feyyvgftlf qthdnrehla mmerilgpip srmirktrkq kyfyrgrldw
      421 dentsagryv renckplrry ltseaeehhq lfdliesmle yepakrltlg ealqhpffar
      481 lraeppnklw dssrdisr
//
LOCUS       XP_054194597             725 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and SCAN domain-containing protein 20 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054194597
VERSION     XP_054194597.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338622.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..725
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..725
                     /product="zinc finger and SCAN domain-containing protein
                     20 isoform X6"
                     /calculated_mol_wt=81615
     CDS             1..725
                     /gene="ZSCAN20"
                     /gene_synonym="KOX29; ZFP-31; ZNF31; ZNF360"
                     /coded_by="XM_054338622.1:267..2444"
                     /db_xref="GeneID:7579"
                     /db_xref="HGNC:HGNC:13093"
                     /db_xref="MIM:611315"
ORIGIN      
        1 mkvsgvhwgy eetktflail sespfseklr tchqnrqvyr aiaeqlrarg flrtleqcry
       61 rvknllrnyr kaksshppgt cpfyeeleal vrartairat dgpgeavalp rlgdsdaemd
      121 eqeeggwdpe emaedcngag lvnvestqgp riagapalfq sriagvhwgy eetkaflail
      181 sespfseklr tchqnsqvyr aiaerlcalg flrtleqcry rfknllrsyr kaksshppgt
      241 cpfyeeldsl mraraavram gtvreaaglp rcgqssaetd aqeawgevan edavkpstlc
      301 pkapdmgfem rhededqise qdifeglpga lskcpteavc qpldwgedse nenedegqwg
      361 npsqeqwqes sseedlekli dhqglylaek pykcdtcmks fsrsshfiah qrihtgekpy
      421 kclecgknfs drsnlnthqr ihtgekpykc lecgksfsdh snlithqrih tgekpykcge
      481 cwksfnqssn llkhqrihlg gnpdqcsepg gnfaqspsfs ahwrnsteet apeqpqsisk
      541 dlnspgphst nsgeklyecs ecgrsfskss alishqriht gekpyecaec gksfsksstl
      601 anhqrthtge kpykcvdcgk cfsersklit hqrvhtgekp ykclecgkff rdrsnlithq
      661 rihtgekpyk crecgkcfnq sssliihqri htgekpykct ecgkdfnnss hfsahrrtha
      721 ggkas
//
LOCUS       XP_054220836             914 aa            linear   PRI 20-MAR-2023
DEFINITION  A disintegrin and metalloproteinase with thrombospondin motifs 14
            isoform X2 [Homo sapiens].
ACCESSION   XP_054220836
VERSION     XP_054220836.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364861.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..914
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..914
                     /product="A disintegrin and metalloproteinase with
                     thrombospondin motifs 14 isoform X2"
                     /calculated_mol_wt=99705
     CDS             1..914
                     /gene="ADAMTS14"
                     /coded_by="XM_054364861.1:231..2975"
                     /db_xref="GeneID:140766"
                     /db_xref="HGNC:HGNC:14899"
                     /db_xref="MIM:607506"
ORIGIN      
        1 mvgyrqslsl iergnpsrsl eqvcrwahsq qrqdpshaeh hdhvvfltrq dfgpsgmqgy
       61 apvtgmchpl rscalnhedg fssafviahe tghvlgmehd gqgngcadet slgsvmaplv
      121 qaafhrfhws rcsklelsry lpsydclldd pfdpawpqpp elpginysmd eqcrfdfgsg
      181 yqtclafrtf epckqlwcsh pdnpyfcktk kgppldgtec apgkwcfkgh ciwkspeqty
      241 gqdggwsswt kfgscsrscg ggvrsrsrsc nnpspayggr pclgpmfeyq vcnseecpgt
      301 yedfraqqca krnsyyvhqn akhswvpyep dddaqkceli cqsadtgdvv fmnqvvhdgt
      361 rcsyrdpysv cargecvpvg cdkevgsmka ddkcgvcggd nshcrtvkgt lgkaskqaga
      421 lklvqipaga rhiqiealek sphrivvknq vtgsfilnpk gkeatsrtft amglewedav
      481 edakeslkts gplpeaiail alppteggpr sslaykyvih edllpligsn nvlleemdty
      541 ewalkswapc skacgggiqf tkygcrrrrd hhmvqrhlcd hkkrpkpirr rcnqhpcsqp
      601 vwvteewgac srscgklgvq trgiqcllpl sngthkvmpa kacagdrpea rrpclrvpcp
      661 aqwrlgawsq csatcgegiq qrqvvcrtna nslghcegdr pdtvqvcslp acggnhqnst
      721 vradvwelgt pegqwvpqse plhpinkiss tepctgdrsv fcqmevldry csipgyhrlc
      781 cvscikkasg pnpgpdpgpt slppfstpgs plpgpqdpad aaeppgkptg sedhqhgrat
      841 qlpgaldtss pgtqhpfape tpipgaswsi spttpgglpw gwtqtptpvp edkgqpgedl
      901 rhpgtslpaa spvt
//
LOCUS       XP_054221900             744 aa            linear   PRI 20-MAR-2023
DEFINITION  actin-binding LIM protein 1 isoform X16 [Homo sapiens].
ACCESSION   XP_054221900
VERSION     XP_054221900.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365925.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..744
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..744
                     /product="actin-binding LIM protein 1 isoform X16"
                     /calculated_mol_wt=83904
     CDS             1..744
                     /gene="ABLIM1"
                     /gene_synonym="ABLIM; abLIM-1; LIMAB1; LIMATIN"
                     /coded_by="XM_054365925.1:481..2715"
                     /db_xref="GeneID:3983"
                     /db_xref="HGNC:HGNC:78"
                     /db_xref="MIM:602330"
ORIGIN      
        1 mvkekvahpq dphhpsekpv ihchkcgepc kgevlrvqtk hfhikcftck vcgcdlaqgg
       61 ffikngeylc tldyqrmygt rchgcgefve gevvtalgkt yhpncfacti ckrpfppgdr
      121 vtfngrdclc qlcaqpmsss pkettfssnc agcgrdikng qallaldkqw hlgcfkcksc
      181 gkvltgeyis kdgapycekd yqglfgvkce achqfitgkv leagdkhyhp scarcsrcnq
      241 mftegeemyl qgstvwhpdc kqstkteekl rptrtssesi ysrpgssipg spghtiyakv
      301 dneildykdl aaipkvkaiy dierpdlity epfytsgydd kqerqslges prtlsptpsa
      361 egyqdvrdrm ihrstsqgsi nspvysrhsy tpttsrspqh fhrpellspg vqrlsylrts
      421 slspthsdsr pnppfrhhfi phikgnepss grnsplpyrp dsrpltptya qapkhfhvpd
      481 qginiyrkpp iykqhdaaal aaqskssedi ikfskfpaaq apdpsetpki etdhwpgpps
      541 favvgpdmkr rssgreedde ellrrrqlqe eqlmklnsgl gqlilkeeme kesrerssll
      601 asrydspins ashipsskta slpgygrngl hrpvstdfaq ynsygdvsgg vrdyqtlpdg
      661 hmpamrmdrg vsmpnmlepk ifpyemlmvt nrgrnkilre vdrtrlerhl apevfreifg
      721 msiqefdrlp lwrrndmkkk aklf
//
LOCUS       XP_054222188             514 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 2B catalytic subunit beta
            isoform isoform X3 [Homo sapiens].
ACCESSION   XP_054222188
VERSION     XP_054222188.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366213.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..514
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..514
                     /product="serine/threonine-protein phosphatase 2B
                     catalytic subunit beta isoform isoform X3"
                     /calculated_mol_wt=57851
     CDS             1..514
                     /gene="PPP3CB"
                     /gene_synonym="CALNA2; CALNB; CNA2; PP2Bbeta"
                     /coded_by="XM_054366213.1:136..1680"
                     /db_xref="GeneID:5532"
                     /db_xref="HGNC:HGNC:9315"
                     /db_xref="MIM:114106"
ORIGIN      
        1 maapeparaa pppppppppp pgadrvvkav pfppthrlts eevfdldgip rvdvlknhlv
       61 kegrvdeeia lriinegaai lrrektmiev eapitvcgdi hgqffdlmkl fevggspant
      121 rylflgdyvd rgyfsiecvl ylwvlkilyp stlfllrgnh ecrhlteyft fkqeckikys
      181 ervyeacmea fdslplaall nqqflcvhgg lspeihtldd irrldrfkep pafgpmcdll
      241 wsdpsedfgn eksqehfshn tvrgcsyfyn ypavceflqn nnllsiirah eaqdagyrmy
      301 rksqttgfps litifsapny ldvynnkaav lkyennvmni rqfncsphpy wlpnfmdvft
      361 wslpfvgekv temlvnvlsi csddelmteg edqfdgsaaa rkeiirnkir aigkmarvfs
      421 vlreesesvl tlkgltptgm lpsgvlaggr qtlqsairgf spphricsfe eakgldrine
      481 rmpprkdavq qdgfnslnta hatenhgtgn htaq
//
LOCUS       XP_054223718             410 aa            linear   PRI 20-MAR-2023
DEFINITION  X-ray radiation resistance-associated protein 1 isoform X26 [Homo
            sapiens].
ACCESSION   XP_054223718
VERSION     XP_054223718.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367743.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..410
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..410
                     /product="X-ray radiation resistance-associated protein 1
                     isoform X26"
                     /calculated_mol_wt=46340
     CDS             1..410
                     /gene="XRRA1"
                     /coded_by="XM_054367743.1:623..1855"
                     /db_xref="GeneID:143570"
                     /db_xref="HGNC:HGNC:18868"
                     /db_xref="MIM:609788"
ORIGIN      
        1 mlddnrlsnp scfaslaglr rlkklslden riiripylqq vqlydesvdw nggrgsphke
       61 pqfmlqskpr mledsdeqld ytvlpmkkdv drtevvfssy pgfstseiak edavlpvalf
      121 pslcefvfhn nplvahtrgv ppllksflqe rlgihlirrk ivkpkhhvlm srkeswkvks
      181 eipkvpkqpl vlhhprmrtt kspskdmlep eaelaedlpt tkstsvesem ptenleghsp
      241 scrtfvplpp icsnstvhse etlshlsdtt vrlsperpsd edskstesif ltqvselpss
      301 vihkddlelk ekdqkkppta prevkgtrrk lptaflpsky hgyeelltak pdpafiepkg
      361 iqknaqalqq mlkhpllchs skpkldtlqk pyvhkekrvl sctsgqnggw
//
LOCUS       XP_054224785             449 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-arrestin-1 isoform X3 [Homo sapiens].
ACCESSION   XP_054224785
VERSION     XP_054224785.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368810.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..449
                     /product="beta-arrestin-1 isoform X3"
                     /calculated_mol_wt=50503
     CDS             1..449
                     /gene="ARRB1"
                     /gene_synonym="ARB1; ARR1"
                     /coded_by="XM_054368810.1:16..1365"
                     /db_xref="GeneID:408"
                     /db_xref="HGNC:HGNC:711"
                     /db_xref="MIM:107940"
ORIGIN      
        1 megdlqrerl rlharriqtl afhppqhpga gcvallsrvf kkaspngklt vylgkrdfvd
       61 hidlvdpvdg vvlvdpeylk errvyvtltc afrygredld vlgltfrkdl fvanvqsfpp
      121 apedkkpltr lqerlikklg ehaypftfei ppnlpcsvtl qpgpedtgka cgvdyevkaf
      181 caenleekih krnsvrlvir kvqyaperpg pqptaettrq flmsdkplhl easldkeiyy
      241 hgepisvnvh vtnntnktvk kikisvrqya diclfntaqy kcpvameead dtvapsstfc
      301 kvytltpfla nnrekrglal dgklkhedtn lasstllreg anreilgiiv sykvkvklvv
      361 srggllgdla ssdvavelpf tlmhpkpkee pphrevpene tpvdtnliel dtndddivfe
      421 dfarqrlkgm kddkeeeedg tgspqlnnr
//
LOCUS       XP_054228302             966 aa            linear   PRI 20-MAR-2023
DEFINITION  protein phosphatase Slingshot homolog 1 isoform X8 [Homo sapiens].
ACCESSION   XP_054228302
VERSION     XP_054228302.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372327.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..966
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..966
                     /product="protein phosphatase Slingshot homolog 1 isoform
                     X8"
                     /calculated_mol_wt=106178
     CDS             1..966
                     /gene="SSH1"
                     /gene_synonym="SSH1L"
                     /coded_by="XM_054372327.1:1191..4091"
                     /db_xref="GeneID:54434"
                     /db_xref="HGNC:HGNC:30579"
                     /db_xref="MIM:606778"
ORIGIN      
        1 mvskakvivn gwlfpaclgf clsesffmvk gaalflqqgs spqgqrslqh phkhagdlpq
       61 hlqvminllr cedriklavr lesawadrvr ymvvvyssgr qdteenillg vdfsskesks
      121 ctigmvlrlw sdtkihldgd ggfsvstagr mhifkpvsvq amwsalqvlh kacevarrhn
      181 yfpggvaliw atyyesciss eqscinewna mqdlestrpd spalfvdkpt egerterlik
      241 aklrsimmsq dlenvtskei rnelekqmnc nlkelkefid nemllilgqm dkpslifdhl
      301 ylgsewnasn leelqgsgvd yilnvtreid nffpglfayh nirvydeett dllahwneay
      361 hfinkankqr hnklwrqqtd sslqqpvddp agpgdflpet pdgtpesqlp flddaaqpgl
      421 gpplpccfrr lsdpllpspe detgslvhle dpereallee aappaevhrp arqpqqgsgl
      481 cekdvkkkle fgspkgrsgs llqveetere eglgagrwgq lptqldqnll nsenlnnnsk
      541 rscpngmedd aifgilnkvk psykscadcm yptasgapea srercedpna paictqpafl
      601 phitsspvah lasrsrvpek pasgpteppp flppagsrra dtsgpgagaa leppasllep
      661 sretpkvlpk slllknshcd knppstevvi keesspkkdm kpakdlrllf snesekpttn
      721 sylmqhqesi iqlqkaglvr khtkelerlk svpadpapps rdgpasrlea sipeesqdpa
      781 alhelgplvm psqagsdeks eaapaslegg slkspppffy rldhtssfsk dflkticytp
      841 tsssmssnlt rssssdsihs vrgkpglvkq rtqeietrlr lagltvsspl krshslaklg
      901 sltfstedls seadpstvad sqdttlsess flhepqgtpr dpaatskpsg kpapenlksp
      961 swmsks
//
LOCUS       XP_054229527             614 aa            linear   PRI 20-MAR-2023
DEFINITION  calcyphosin-2 isoform X1 [Homo sapiens].
ACCESSION   XP_054229527
VERSION     XP_054229527.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373552.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..614
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..614
                     /product="calcyphosin-2 isoform X1"
                     /calculated_mol_wt=70179
     CDS             1..614
                     /gene="CAPS2"
                     /gene_synonym="UG0636c06"
                     /coded_by="XM_054373552.1:5084..6928"
                     /db_xref="GeneID:84698"
                     /db_xref="HGNC:HGNC:16471"
                     /db_xref="MIM:607724"
ORIGIN      
        1 mgnsfcytav ycmintgtqm dlevkgvaat srsqiqpffg rkkplqqrwt seswtnqnsc
       61 ppvvprldlg slvdsddedn fsyiplstan lpnssstlgw vtpcqtpytq yhlnkldqni
      121 ipenlpaptd kcklkyqqck teikegykqy sqrnaentks nvthkqsprn kidekcvqde
      181 eantddlttl drkailqqgy adnscdkqqr arkldaeiva aekkkqivae qvmidhlsra
      241 visdpeqnla ieqkesdhil pdskmtplrf rkrtlhetki rthstltenv lshklqfdgr
      301 ivsrngrdac religfffth dqsltiyeyr qfgknrtnvl pfiqksiysh qcgrrkgkqy
      361 rlgdfyvgat ltflssdhls lpesikentl lklritnidq ialdslktas meqeddiiiq
      421 etndrlvfka iqdvlkeklh krgvriltgl gkyfqqldke gnglldkadf kqalkvfhle
      481 vsekdfesaw lilndngngk vdygefkrgi igemneyrks yvrkafmkld fnksgsvpii
      541 nirkcycakk hsqvisghst eeeikssfle tlkvacsksd evsygefedy yeglsigivd
      601 dedfvnilrt pwgi
//
LOCUS       XP_054230799             993 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein 26 isoform X22 [Homo sapiens].
ACCESSION   XP_054230799
VERSION     XP_054230799.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374824.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..993
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..993
                     /product="RNA-binding protein 26 isoform X22"
                     /calculated_mol_wt=112001
     CDS             1..993
                     /gene="RBM26"
                     /gene_synonym="ARRS2; C13orf10; PPP1R132; PRO1777; SE70-2;
                     ZC3H17"
                     /coded_by="XM_054374824.1:482..3463"
                     /db_xref="GeneID:64062"
                     /db_xref="HGNC:HGNC:20327"
                     /db_xref="MIM:620081"
ORIGIN      
        1 mvskmiienf ealkswlskt lepicdadps alakyvlalv kkdksekelk alcidqldvf
       61 lqketqifve klfdavntks ylpppeqpss gslkveffph qekdikkeei tkeeerekkf
      121 srrlnhsppq sssryrenrs rderkkddrs rkrdydrnpp rrdsyrdryn rrrgrsrsys
      181 rsrsrswske rlrerdrdrs rtrsrsrtrs rerdlvkpky dldrtdplen nytpvssvps
      241 issghypvpt lsstitviap thhgnnttes wsefhedqvd hnsyvrppmp kkrcrdydek
      301 gfcmrgdmcp fdhgsdpvvv edvnlpgmlp fpaqppvveg ppppglpppp piltpppvnl
      361 rppvpppgpl ppslppvtdd isyslvltgp ppplpplqps gmdappnsat ssvptvvttg
      421 ihhqpppapp slftadtydt dgynpeapsi tntsrpmyrh rvhaqrpnli gltsgdmdlp
      481 prekppnkss mrivvdsesr krtigsgepg vptkktwfdk pnfnrtnspg fqkkvqfgne
      541 ntklelrkvp pelnniskln ehfsrfgtlv nlqvayngdp egaliqfaty eeakkaisst
      601 eavlnnrfik vywhregstq qlqttspkvm qplvqqpilp vvkqsvkerl gpvpsstiep
      661 aeaqsassdl pqvlststgl tktvynpaal kaaqktllvs tsavdnneaq kkkqealklq
      721 qdvrkrkqei lekhietqkm liskleknkt mksedkaeim ktlevltkni tklkdevkaa
      781 spgrclpksi ktktqmqkel ldteldlykk mqageevtel rrkytelqle aakrgilssg
      841 rgrgihsrgr gavhgrgrgr grgrgvpgha vvdhrprale isaftesdre dllphfaqyg
      901 eiedcqidds slhavitfkt raeaeaaavh garfkgqdlk lawnkpvtni saveteevep
      961 deeefqeesl vddsllqddd eeeednesrs wrr
//
LOCUS       XP_054232162            1363 aa            linear   PRI 20-MAR-2023
DEFINITION  ninein isoform X17 [Homo sapiens].
ACCESSION   XP_054232162
VERSION     XP_054232162.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376187.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1363
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1363
                     /product="ninein isoform X17"
                     /calculated_mol_wt=158062
     CDS             1..1363
                     /gene="NIN"
                     /gene_synonym="SCKL7"
                     /coded_by="XM_054376187.1:181..4272"
                     /db_xref="GeneID:51199"
                     /db_xref="HGNC:HGNC:14906"
                     /db_xref="MIM:608684"
ORIGIN      
        1 mdeveqdqhe arlkelfdsf dttgtgslgq eeltdlchml sleevapvlq qtllqdnllg
       61 rvhfdqfkea lililsrtls neehfqepas vgvscqqvar vsgpllnghk lthcllikdc
      121 sleaqpkyvr ggkrygrrsl pefqesveef pevtviepld eearpshipa gdcsehwktq
      181 rseeyeaegq lrfwnpddln asqsgssppq dwieeklqev cedlgitrdg hlnrkklvsi
      241 ceqyglqnvd gemleevfhn ldpdgtmsve dffyglfkng ksltpsastp yrqlkrhlsm
      301 qsfdesgrrt ttssamtsti gfrvfscldd gmghasveri ldtwqeegie nsqeilkald
      361 fsldgninlt eltlalenel lvtknsihqa alasfkaeir hllervdqvv rekeklrsdl
      421 dkaeklkslm asevddhhaa ierrneynlr kldeeykeri aalknelrke reqilqqagk
      481 qrleleqeie kakteenyir drlalslken srlenellen aeklaeyenl tnklqrnlen
      541 vlaekfgdld pssaefflqe erltqmrney erqcrvlqdq vdelqselee yraqgrvlrl
      601 plknspseev eansggiepe hglgseecnp lnmsieaelv ieqmkeqhhr dicclrlele
      661 dkvrhyekql detvvsckka qenmkqrhen ethtlekqis dlkneiaelq gqaavlkeah
      721 heatcrheee kkqlqvklee ekthlqeklr lqhemelkar ltqaqasfer ereglqssaw
      781 teekvrgltq eleqfhqeql tslvekhtle keelrkelle khqrelqegr yeseklqqen
      841 silrneittl needsisnlk lgtlngsqee mwqktetvkq enaavqkmve nlkkqiselk
      901 iknqqldlen telsqknsqn qeklqelnqr ltemlcqkek epgnsaleer eqekfnlkee
      961 lerckvqsst lvssleaels evkiqthivq qenhllkdel ekmkqlhrcp dlsdfqqkis
     1021 svlsynekll kekealseel nscvdklaks sllehriatm kqeqkswehq saslksqlva
     1081 sqekvqnled tvqnvnlqms rmksdlrvtq qekealkqev mslhkqlqna ggkswapeia
     1141 thpsglhnqq krlswdkldh lmneeqqllw qenerlqtmv qntkaelths rekvrqlesn
     1201 llpkhqkhln psgtmnpteq eklslkrecd qfqkeqspan rkvsqmnsle qeletihlen
     1261 eglkkkqvkl deqlmemqhl rstatpspsp hawdlqllqq qacpmvpreq flqlqrqllq
     1321 aerinqhlqe elenrtsetn tpqallpeqr avhadsyrri ghl
//
LOCUS       XP_054233205             441 aa            linear   PRI 20-MAR-2023
DEFINITION  neuronal acetylcholine receptor subunit alpha-7 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054233205
VERSION     XP_054233205.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377230.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..441
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..441
                     /product="neuronal acetylcholine receptor subunit alpha-7
                     isoform X2"
                     /calculated_mol_wt=48802
     CDS             1..441
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /coded_by="XM_054377230.1:116..1441"
                     /db_xref="GeneID:1139"
                     /db_xref="HGNC:HGNC:1960"
                     /db_xref="MIM:118511"
ORIGIN      
        1 marfgnqtff sitavmtnsr kcwpmgctag ahsldphprl csllcigefc grdgcsader
       61 fdatfhtnvl vnssghcqyl ppgifksscy idvrwfpfdv qhcklkfgsw syggwsldlq
      121 mqeadisgyi pngewdlvgi pgkrserfye cckepypdvt ftvtmrrrtl yyglnllipc
      181 vlisalallv fllpadsgek islgitvlls ltvfmllvae impatsdsvp liaqyfastm
      241 iivglsvvvt vivlqyhhhd pdggkmpkwt rvillnwcaw flrmkrpged kvrpacqhkq
      301 rrcslasvem savapppasn gnllyigfrg ldgvhcvptp dsgvvcgrma cspthdehll
      361 hggqppegdp dlakileevr yianrfrcqd eseavcsewk faacvvdrlc lmafsvftii
      421 ctigilmsap nfveavskdf a
//
LOCUS       XP_054235827             576 aa            linear   PRI 20-MAR-2023
DEFINITION  ADP-ribosylation factor-binding protein GGA2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054235827
VERSION     XP_054235827.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379852.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..576
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..576
                     /product="ADP-ribosylation factor-binding protein GGA2
                     isoform X2"
                     /calculated_mol_wt=63541
     CDS             1..576
                     /gene="GGA2"
                     /gene_synonym="VEAR"
                     /coded_by="XM_054379852.1:394..2124"
                     /db_xref="GeneID:23062"
                     /db_xref="HGNC:HGNC:16064"
                     /db_xref="MIM:606005"
ORIGIN      
        1 mseqdwsaiq nfceqvntdp ngpthapwll ahkiqspqek ealyaltvle mcmnhcgekf
       61 hsevakfrfl nelikvlspk ylgswatgkv kgrvieilfs wtvwfpedik irdayqmlkk
      121 qgiikqdpkl pvdkilppps pwpkssifda deeksklltr llksnhpedl qaanrliknl
      181 vkeeqeksek vskrvsavee vrshvkvlqe mlsmyrrpgq appdqealqv vyerceklrp
      241 tlfrlasdtt ddddalaeil qandlltqgv llykqvmegr vtfgnrvtss lgdipvsrvf
      301 qnpagcmktc plidlevdng paqmgtvvps llhqdlaalg isdapvtgmv sgqncceekr
      361 npssstlpgg gvqnpsadrn lldllspqpa pcplnyvsqk svpkevppgt ksspgwswea
      421 gplapspssq ntplaqvfvp lesvkpsslp plivydrngf rillhfsqtg apghpevqvl
      481 lltmmstapq pvwdimfqva vpksmrvklq passsklpaf splmppavis qmllldnphk
      541 epirlryklt fnqggqpfse vgevkdfpdl avlgaa
//
LOCUS       XP_047302618             443 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear pore complex-interacting protein family member B15 isoform
            X1 [Homo sapiens].
ACCESSION   XP_047302618
VERSION     XP_047302618.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047446662.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..443
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..443
                     /product="nuclear pore complex-interacting protein family
                     member B15 isoform X1"
                     /calculated_mol_wt=51136
     Region          23..299
                     /region_name="NPIP"
                     /note="Nuclear pore complex interacting protein (NPIP);
                     pfam06409"
                     /db_xref="CDD:428922"
     CDS             1..443
                     /gene="LOC124907808"
                     /coded_by="XM_047446662.1:632..1963"
                     /db_xref="GeneID:124907808"
ORIGIN      
        1 mrlrfwlliw lllgfishqp tpvinslavy rhretdfgvg vrdhpgqhgk tpspqkldnl
       61 iiiiigflrr dtftilfcts ylcvsflkti fwsrnghdgs tdvqqrawrs nrsrqkglrs
      121 icmhtkkrvs sfrgnkiglk dvitlrrhve tkvrakirkr kvttkinrhd kingkrktar
      181 kqkmfqraqe lrrraedyhk ckippsarkp lcnwvrmaaa ehrhssglpc wpyltaealk
      241 nrmgrqpppp tqqhsitdns lslktppecl lhplppsvdd nikecplapl ppsvddnlke
      301 yllvplppsp lppsvddnlk dclfvplpps plppsvddnl ktpplatqea eaekppkpkr
      361 wrvdeveqsp kpkrrradev eqspkpkrqr eaeaqqlpkp krrrlsklrt rhctqawair
      421 inpwvekkkk ikkqnkthap ktn
//
LOCUS       XP_054172147             590 aa            linear   PRI 20-MAR-2023
DEFINITION  max-binding protein MNT isoform X1 [Homo sapiens].
ACCESSION   XP_054172147
VERSION     XP_054172147.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316172.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..590
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..590
                     /product="max-binding protein MNT isoform X1"
                     /calculated_mol_wt=62757
     CDS             1..590
                     /gene="MNT"
                     /gene_synonym="bHLHd3; lncRNA-HAL; MAD6; MXD6; ROX"
                     /coded_by="XM_054316172.1:205..1977"
                     /db_xref="GeneID:4335"
                     /db_xref="HGNC:HGNC:7188"
                     /db_xref="MIM:603039"
ORIGIN      
        1 msyvwaqgsg edraqgserl shllppstrc sskeqerlrl eqereqeqkk anslarlaht
       61 lpveeprmea pplplsppap ppapppplat papltvipip vvtnspqplp pppplpaaaq
      121 plplaprqpa lvgapglsik epaplpsrpq vptpapllpd skatippngs pkplqplptp
      181 vltiaphpgv qpqlapqqpp pptlgtlkla paeevksseq kkrpggigtr evhnkleknr
      241 rahlkecfet lkrnipnvdd kktsnlsvlr talryiqslk rkekeyehem erlarekiat
      301 qqrlaelkhe lsqwmdvlei drvlrqtgqp eddqaststa segednided meedraglgp
      361 pklshrpqpe llkstlppps ttpaplpphp hphphsvalp pahlpvqqqq pqqktplpap
      421 ppppaapaqt lvpapahlva tagggstvia htatthasvi qtvnhvlqgp ggkhiahiap
      481 sapspavqla patppighit vhpatlnhva hlgsqlplyp qpvavshiah tlshqqvngt
      541 aglgppatvm akpavgaqvv hhpqlvgqtv lnpvtmvtmp sfpvstlkla
//
LOCUS       XP_054174502             495 aa            linear   PRI 20-MAR-2023
DEFINITION  clusterin-like protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054174502
VERSION     XP_054174502.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318527.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..495
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..495
                     /product="clusterin-like protein 1 isoform X3"
                     /calculated_mol_wt=57421
     CDS             1..495
                     /gene="CLUL1"
                     /gene_synonym="RA337M"
                     /coded_by="XM_054318527.1:209..1696"
                     /db_xref="GeneID:27098"
                     /db_xref="HGNC:HGNC:2096"
                     /db_xref="MIM:616990"
ORIGIN      
        1 mkikaekneg psrswwqlhw gdiannsgnm kppllvfivc llwlkdshca ptwkdktais
       61 enlksfsevg eidadeevkk altgikqmki mmerkekeht nlmstlkkcr eekqealkll
      121 nevqehleee erlcreslad swgecrscle nncmriyttc qpswssvknk ierffrkiyq
      181 flfpfhedne kdlpisekli eedaqltqme dvfsqltvdv nslfnrsfnv frqmqqefdq
      241 tfqshfisdt dltepyffpa fskepmtkad leqcwdipnf fqlfcnfsvs iyesvsetit
      301 kmlkaiedlp kqdkapdhgg liskmlpgqd rglcgeldqn lsrcfkfhek cqkcqahlse
      361 dcpdvpalht eldeairlvn vsnqqygqil qmtrkhledt aylvekmrgq fgwvselanq
      421 apeteiifns iqvvpriheg niskqdetmm tdlsilpssn ftlkiplees aessnfigyv
      481 vakalqhfke hfktw
//
LOCUS       XP_054176926             293 aa            linear   PRI 20-MAR-2023
DEFINITION  C-type lectin domain family 17, member A isoform X2 [Homo sapiens].
ACCESSION   XP_054176926
VERSION     XP_054176926.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320951.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..293
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..293
                     /product="C-type lectin domain family 17, member A isoform
                     X2"
                     /calculated_mol_wt=33121
     CDS             1..293
                     /gene="CLEC17A"
                     /coded_by="XM_054320951.1:730..1611"
                     /db_xref="GeneID:388512"
                     /db_xref="HGNC:HGNC:34520"
                     /db_xref="MIM:616838"
ORIGIN      
        1 meeeeedddy enstppykdl ppkpgssapp rppragldla avtcpppqla vnlepsplqp
       61 slaatpvpwl nqrsggpgcc qkrwmvylcl lvvtslflgc lgltvtliky qelmeelrml
      121 sfqqmtwrtn mtgmaglagl khdiarvrad tnqslvelwg lldcrritcp egwlpfegkc
      181 yyfspstksw dearmfcqen yshlviinsf aehnfvakah gsprvywlgl ndraqegdwr
      241 wldgspvtls fwepeepnni hdedcatmnk ggtwndlscy kttywicerk csc
//
LOCUS       XP_054196190             296 aa            linear   PRI 20-MAR-2023
DEFINITION  U4/U6.U5 tri-snRNP-associated protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054196190
VERSION     XP_054196190.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340215.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..296
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..296
                     /product="U4/U6.U5 tri-snRNP-associated protein 2 isoform
                     X3"
                     /calculated_mol_wt=34524
     CDS             1..296
                     /gene="USP39"
                     /gene_synonym="65K; CGI-21; HSPC332; SAD1; SNRNP65"
                     /coded_by="XM_054340215.1:761..1651"
                     /db_xref="GeneID:10713"
                     /db_xref="HGNC:HGNC:20071"
                     /db_xref="MIM:611594"
ORIGIN      
        1 mfllvqrfge lmrklwnprn fkahvsphem lqavvlcskk tfqitkqgdg vdflswflna
       61 lhsalggtkk kkktivtdvf qgsmriftkk lphpdlpaee keqllhndey qetmvestfm
      121 yltldlptap lykdekeqli ipqvplfnil akfngiteke yktykenflk rfqltklppy
      181 lifcikrftk nnffveknpt ivnfpitnvd lreylseevq avhknttydl ianivhdgkp
      241 segsyrihvl hhgtgkwyel qdlqvtdilp qmitlseayi qiwkrrdnde tnqqga
//
LOCUS       XP_054196332             875 aa            linear   PRI 20-MAR-2023
DEFINITION  kelch-like protein 29 isoform X1 [Homo sapiens].
ACCESSION   XP_054196332
VERSION     XP_054196332.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340357.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..875
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..875
                     /product="kelch-like protein 29 isoform X1"
                     /calculated_mol_wt=94098
     CDS             1..875
                     /gene="KLHL29"
                     /gene_synonym="KBTBD9"
                     /coded_by="XM_054340357.1:16771..19398"
                     /db_xref="GeneID:114818"
                     /db_xref="HGNC:HGNC:29404"
ORIGIN      
        1 msrhhsrfer dyrvgwdrre wsvngthgtt sicsvtsgag ggtasslsvr pgllplpvvp
       61 srlptpatap apcttgssea itslvassas avttkapgis kgdsqsqgla tsirwgqtpi
      121 nqstpwdtde ppskqmresd npgtgpwvtt vaagnqptli ahsygvaqpp tfspavnvqa
      181 pvigvtpslp phvgpqlplm pghyslpqpp sqplssvvvn mpaqalyasp qplavstlpg
      241 vgqvarpgpt avgnghmagp llpppppaqp satlpsgapa tngppttdsa hglqmlrtig
      301 vgkyeftdpg hpremlkeln qqrrakaftd lkivvegref evhqnvlasc slyfkdliqr
      361 svqdsgqggr eklelvlsnl qadvlellle fvytgslvid sanaktllea askfqfhtfc
      421 kvcvsflekq ltasnclgvl amaeamqcse lyhmakafal qifpevaaqe eilsiskddf
      481 iayvsndsln tkaeelvyet vikwikkdpa trtqyaaell avvrlpfihp syllnvvdne
      541 eliksseacr dlvneakryh mlpharqemq tprtrprlsa gvaevivlvg grqmvgmtqr
      601 slvavtcwnp qnnkwyplas lpfydreffs vvsagdniyl sggmesgvtl advwcymsll
      661 dnwnlvsrmt vprcrhnslv ydgkiytlgg lgvagnvdhv erydtitnqw eavaplpkav
      721 hsaaatvcgg kiyvfggvne agraagvlqs yvpqtntwsf iespmidnky apavtlngfv
      781 filggayara ttiydpekgn ikagpnmnhs rqfcsavvld gkiyatggiv ssegpalgnm
      841 eayepttntw tllphmpcpv frhgcvvikk yiqsg
//
LOCUS       XP_054179135             806 aa            linear   PRI 20-MAR-2023
DEFINITION  band 4.1-like protein 1 isoform X14 [Homo sapiens].
ACCESSION   XP_054179135
VERSION     XP_054179135.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323160.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..806
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..806
                     /product="band 4.1-like protein 1 isoform X14"
                     /calculated_mol_wt=90270
     CDS             1..806
                     /gene="EPB41L1"
                     /gene_synonym="4.1N; MRD11"
                     /coded_by="XM_054323160.1:169..2589"
                     /db_xref="GeneID:2036"
                     /db_xref="HGNC:HGNC:3378"
                     /db_xref="MIM:602879"
ORIGIN      
        1 meekdysead glserttpsk aqkspqkiak kyksaicrvt lldaseyece vekhgrgqvl
       61 fdlvcehlnl lekdyfgltf cdadsqknwl dpskeikkqi rsspwnfaft vkfyppdpaq
      121 lteditryyl clqlradiit grlpcsfvth allgsyavqa elgdydaeeh vgnyvselrf
      181 apnqtrelee rimelhktyr gmtpgeaeih flenakklsm ygvdlhhakd segidimlgv
      241 canglliyrd rlrinrfawp kilkisykrs nfyikirpge yeqfestigf klpnhrsakr
      301 lwkvciehht ffrlvspepp pkgflvmgsk frysgrtqaq trqasalidr papffersss
      361 krytmsrsld gaefsrpasv senhdagpdg dkrdedgesg gqrseaeege vrtptkikel
      421 kfldkpedvl lkhqasinel krtlkepnsk lihrdrdwer errlpsspas pspkgtpeka
      481 neraglregs eekvkpprpr apesdtgded qdqerdtvfl kdnhlaierk cssitvssts
      541 sleaevdftv igdyhgsafe dfsrslpeld rdksdsdteg llfsrdlnkg apsqddesgg
      601 iedspdrgac stpdmpqfep vktetmtvss lairkkiepe avlqtrvsam dntqvdgsas
      661 vgrefiattp sittetistt menslksgkg aaamipgpqt vateirslsp iigkdvltst
      721 ygataetlst sttthvtktv kggfsetrie kriiitgded vdqdqalala ikeaklqhpd
      781 mlvtkavvyr etdpspeerd kkpqes
//
LOCUS       XP_047302900             368 aa            linear   PRI 20-MAR-2023
DEFINITION  putative WAS protein family homolog 3 isoform X7 [Homo sapiens].
ACCESSION   XP_047302900
VERSION     XP_047302900.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047446944.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..368
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..368
                     /product="putative WAS protein family homolog 3 isoform
                     X7"
                     /calculated_mol_wt=39029
     Region          <130..200
                     /region_name="WASH_WAHD"
                     /note="WAHD domain of WASH complex; pfam11945"
                     /db_xref="CDD:432209"
     CDS             1..368
                     /gene="LOC124908102"
                     /coded_by="XM_047446944.1:125..1231"
                     /db_xref="GeneID:124908102"
ORIGIN      
        1 mpcpsssqtc gerrpssrww mpcstcrrsl etssagvlqc qvpcsrapag iwlhlhqrpg
       61 pwpaetpppq dpeqapppgr agpageaegl scvrehqaga rgrcrrgtwg ssqqhqlcql
      121 laalqhhrep vpenyfyvpd lgqvpeidvp sylpdlsgia ndlmyiadlg pgiapsapgt
      181 ipelptfhte vaeplkvdlq dgvltppppp pppppapevl asapplppst aapvgqgarq
      241 ddssssasps vqgaprevvd psggwatlle sirqaggisk aklrsmkerk lekkqqkeqe
      301 qvratsqggh lmsdlfnklv mrrkgisgkg pgagegpgga farvsdsipp lpppqqpqae
      361 ededdwes
//
LOCUS       XP_054180593             345 aa            linear   PRI 20-MAR-2023
DEFINITION  poly(rC)-binding protein 3 isoform X11 [Homo sapiens].
ACCESSION   XP_054180593
VERSION     XP_054180593.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324618.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..345
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..345
                     /product="poly(rC)-binding protein 3 isoform X11"
                     /calculated_mol_wt=36686
     CDS             1..345
                     /gene="PCBP3"
                     /gene_synonym="ALPHA-CP3; PCBP3-OT1; PCBP3OT"
                     /coded_by="XM_054324618.1:423..1460"
                     /db_xref="GeneID:54039"
                     /db_xref="HGNC:HGNC:8651"
                     /db_xref="MIM:608502"
ORIGIN      
        1 mgegdafwap svlphstlst lshhpqpqfg rrmeskvseg glnvtltirl lmhgkevgsi
       61 igkkgetvkk mreesgarin isegncperi vtitgptdai fkafamiayk feediinsms
      121 nspatskppv tlrlvvpasq cgsligkggs kikeirestg aqvqvagdml pnsteravti
      181 sgtpdaiiqc vkqicvvmle aytiqgqyai phpdltklhq lamqqtpfpp lgqtnpafpg
      241 eklplhssee aqnlmgqssg ldasppasth eltipndlig ciigrqgtki neirqmsgaq
      301 ikianategs serqititgt panislaqyl inarltsevt gmgtl
//
LOCUS       XP_054205307            3499 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat and FYVE domain-containing protein 3 isoform X9 [Homo
            sapiens].
ACCESSION   XP_054205307
VERSION     XP_054205307.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349332.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3499
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3499
                     /product="WD repeat and FYVE domain-containing protein 3
                     isoform X9"
                     /calculated_mol_wt=392206
     CDS             1..3499
                     /gene="WDFY3"
                     /gene_synonym="ALFY; BCHS; MCPH18; ZFYVE25"
                     /coded_by="XM_054349332.1:14715..25214"
                     /db_xref="GeneID:23001"
                     /db_xref="HGNC:HGNC:20751"
                     /db_xref="MIM:617485"
ORIGIN      
        1 mnmvkrimgr prqeecspqd nalglmhlrr lftelchppr hmtqkeqeek lymmlpvfnr
       61 vfgnappntm tekfsdllqf ttqvsrlmvt eirrrasnks tekqcallsp kdfkattpse
      121 aasraivqfl einqseeasr gwmllttinl lassgqktvd cmttmsvpst lvkclylffd
      181 lphvpeavgg aqnelplaer rgllqkvfvq ilvklcsfvs paeelaqkdd lqllfsaits
      241 wcppynlpwr ksagevlmti srhglsvnvv kyihekecls tcvqnmqqsd dlspleivem
      301 faglscflkd ssdvsqtlld dfriwqgynf lcdlllrleq akeaeskdal kdlvnlitsl
      361 ttygvselkp agittgapfl lpgfavpqpa gkghsvrnvq afavlqnafl kaktsflaqi
      421 ildaitniym adnanyfile sqhtlsqfae kisklpevqn kyfemlefvv fslnyipcke
      481 lisvsillks sssyhcsiia mktllkftrh dyifkdvfre vgllevmvnl lhkyaallkd
      541 ptqalneqgd srnnssvedq khlallvmet ltvllqgsnt nagifrefgg arcahnivky
      601 pqcrqhalmt iqqlvlspng dddmgtllgl mhsapptelq lktdilrall svlreshrsr
      661 tvfrkvggfv yitsllvame rslscppkng wekvnqnqvf ellhtvfctl taamryepan
      721 shffkteiqy ekladavrfl gcfsdlrkis amnvfpsntq pfqrlleedv isiesvsptl
      781 rhcsklfiyl ykvatdsfdr hayhsvstpp vyppknvadl klhvttsslq ssdaviihpg
      841 amlamldlla svgsvtqpeh aldlqlavan ilqslvhter nqqvmceagl harllqrcsa
      901 aladedhslh pplqrmferl asqalepmvl reflrlaspl ncgawdkkll kqyrvhkpss
      961 lsyepemrss mitsleglgt dnvfslhedn hyriskslvk saegstvplt rvkclvsmtt
     1021 phdirlhgss vtpafvefdt slegfgclfl pslaphnapt nntvttglid gavvsgigsg
     1081 erffpppsgl sysswfcieh fssppnnhpv rlltvvrran sseqhyvcla ivlsakdrsl
     1141 ivstkeellq nyvddfsees sfyeilpcca rfrcgeliie gqwhhlvlvm skgmlknsta
     1201 alyidgqlvn tvklhyvhst pggsgsanpp vvstvyayig tppaqrqias lvwrlgpthf
     1261 leevlpssnv ttiyelgpny vgsfqavcmp ckdaksegvv pspvslvpee kvsfglyals
     1321 vssltvarir kvynkldska iakqlgissh enatpvklih nsaghlngsa rtigaaligy
     1381 lgvrtfvpkp vattlqyvgg aaailglvam asdveglyaa vkalvcvvks nplaskemer
     1441 ikgyqllaml lkkkrsllns hilhltfslv gtvdsghets iipnstafqd llcdfevwlh
     1501 apyelhlslf ehfielltes seasknaklm refqlipkll ltlrdmslsq ptiaaisnvl
     1561 sfllqgfpss ndllrfgqfi sstlptfavc ekfvvmeinn eekldtgtee efgglvsanl
     1621 illrnrlldi llkliytske ktsinlqace elvktlgfdw immfmeehlh sttvtaamri
     1681 lvvllsnqsi likfkeglsg ggwleqtdsv ltnkigtvlg fnvgrsaggr stvreinrda
     1741 chfpgfpvlq sflpkhtnvp alyfllmalf lqqpvselpe nlqvsvpvis crskqgcqfd
     1801 ldsiwtfifg vpassgtvvs sihnvcteav flllgmlrsm ltspwqseee gswlreypvt
     1861 lmqffrylyh nvpdlasmwm spdflcalaa tvfpfnirpy semvtdldde vgspaeefka
     1921 faadtgmnrs qseycnvgtk tyltnhpakk fvfdfmrvli idnlcltpas kqtplidlll
     1981 easperstrt qqkefqtyil dsvmdhllaa dvllgedasl pitsggsyqv lvnnvfyftq
     2041 rvvdklwqgm fnkeskllid fiiqliaqsk rrsqglslda vyhclnrtil yqfsrahktv
     2101 pqqvalldsl rvltvnrnli lgpgnhdqef isclahclin lhvgsnvdgf gleaearmtt
     2161 whimipsdie pdgsysqdis egrqllikav nrvwtelihs kkqvleelfk vtlpvnergh
     2221 vdiatarpli eeaalkcwqn hlahekkcis rgealapttq sklsrvssgf glskltgsrr
     2281 nrkesglnkh slstqeisqw mfthiavvrd lvdtqykeyq erqqnalkyv teewcqiece
     2341 llrerglwgp pigshldkwm lemtegpcrm rkkmvrndmf ynhypyvpet eqetnvakpa
     2401 ryrravsyds keyymrlasg npaivqdaiv essegeaaqq epehgedtia kvkglvkppl
     2461 krsrsapdgg deenqeqlqd qiaegssiee eektdnatll rlleegekiq hmyrcarvqg
     2521 ldtseglllf gkehfyvidg ftmtatreir dietlppnmh epiiprgarq gpsqlkrtcs
     2581 ifayedikev hkrryllqpi avevfsgdgr nyllafqkgi rnkvyqrfla vvpsltdsse
     2641 svsgqrpnts veqgsgllst lvgeksvtqr wergeisnfq ylmhlntlag rsyndlmqyp
     2701 vfpwiladyd seevdltnpk tfrnlakpmg aqtderlaqy kkrykdwedp ngetpayhyg
     2761 thyssamiva sylvrmepft qiflrlqggh fdladrmfhs vreawysask hnmadvkeli
     2821 peffylpefl fnsnnfdlgc kqngtklgdv ilppwakgdp refirvhrea lecdyvsahl
     2881 hewidlifgy kqqgpaavea vnvfhhlfye gqvdiynind plketatigf innfgqipkq
     2941 lfkkphppkr vrsrlngdna gisvlpgsts dkiffhhldn lrpsltpvke lkepvgqivc
     3001 tdkgilaveq nkvlipptwn ktfawgyadl scrlgtyesd kamtvyecls ewgqilcaic
     3061 pnpklvitgg tstvvcvwem gtskekaktv tlkqallght dtvtcatasl ayhiivsgsr
     3121 drtciiwdln klsfltqlrg hrapvsalci neltgdivsc agtyihvwsi ngnpivsvnt
     3181 ftgrsqqiic ccmsemnewd tqnvivtghs dgvvrfwrme flqvpetpap epaevlemqe
     3241 dcpeaqigqe aqdedssdse adeqsisqdp kdtpsqpsst shrpraascr ataawctdsg
     3301 sddsrrwsdq lsldekdgfi fvnysegqtr ahlqgplshp hpnpievrny srlkpgyrwe
     3361 rqlvfrsklt mhtafdrkdn ahpaevtalg iskdhsrilv gdsrgrvfsw svsdqpgrsa
     3421 adhwvkdegg dscsgcsvrf slterrhhcr ncgqlfcqkc srfqseikrl kisspvrvcq
     3481 ncyynlqher gsedgprnc
//
LOCUS       XP_054205352             152 aa            linear   PRI 20-MAR-2023
DEFINITION  DCN1-like protein 4 isoform X11 [Homo sapiens].
ACCESSION   XP_054205352
VERSION     XP_054205352.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349377.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..152
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..152
                     /product="DCN1-like protein 4 isoform X11"
                     /calculated_mol_wt=18049
     CDS             1..152
                     /gene="DCUN1D4"
                     /gene_synonym="DCNL4"
                     /coded_by="XM_054349377.1:18..476"
                     /db_xref="GeneID:23142"
                     /db_xref="HGNC:HGNC:28998"
                     /db_xref="MIM:612977"
ORIGIN      
        1 mlvlawklda qnmgyftlqe wlkgmtslqc dtteklrntl dylrsflnds tnfkliyrya
       61 fdfarekdqr sldintakcm lglllgkiwp lfpvfhqfle qskykvinkd qwcnvlefsr
      121 tinldlsnyd edgawpvlld efvewykdkq ms
//
LOCUS       XP_054205443            1523 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor L3 isoform X9 [Homo sapiens].
ACCESSION   XP_054205443
VERSION     XP_054205443.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349468.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1523
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1523
                     /product="adhesion G protein-coupled receptor L3 isoform
                     X9"
                     /calculated_mol_wt=169713
     CDS             1..1523
                     /gene="ADGRL3"
                     /gene_synonym="CIRL3; CL3; LEC3; LPHN3"
                     /coded_by="XM_054349468.1:288..4859"
                     /db_xref="GeneID:23284"
                     /db_xref="HGNC:HGNC:20974"
                     /db_xref="MIM:616417"
ORIGIN      
        1 mwpsqllifm mllapiihgg khserhpala aplrhaersp ggalpprhll qqpaaertaa
       61 hrgqgprgat rgvrgpgaqg aqiaaqafsr apipmavvrr elscesypie lrcpgtdvim
      121 iesanygrtd dkicdsdpaq menircylpd aykimsqrcn nrtqcavvag pdvfpdpcpg
      181 tykylevqye cvpykveqkv flcpgllkgv yqsehlfesd hqsgawckdp lqasdkiyym
      241 pwtpyrtdtl teysskddfi agrptttykl phrvdgtgfv vydgalffnk ertrnivkfd
      301 lrtriksgea iiananyhdt spyrwggksd idlavdengl wviyateqnn gkivisqlnp
      361 ytlriegtwd taydkrsasn afmicgilyv vksvyedddn eatgnkidyi yntdqskdsl
      421 vdvpfpnsyq yiaavdynpr dnllyvwnny hvvkysldfg pldsrsgqah hgqvsyispp
      481 ihldselerp svkgplgmgs tttsttlrtt tlspgrsttp svsgrrnrst stpspavevl
      541 ddmtthlpsa ssqipalees ceaveareim wfktrqgqia kqpcpagtig vstylclapd
      601 giwdpqgpdl sncsspwvnh itqklksget aaniarelae qtrnhlnagd itysvramdq
      661 lvglldvqlr nltpggkdsa arslnklqkr erscrayvqa mvetvnnllq pqalnawrdl
      721 ttsdqlraat mllhtveesa fvladnllkt divrentdni klevarlste gnledlkfpe
      781 nmghgstiql santlkqngr ngeirvafvl ynnlgpylst enasmklgte alstnhsviv
      841 nspvitaain kefsnkvyla dpvvftvkhi kqseenfnpn csfwsyskrt mtgywstqgc
      901 rllttnktht tcscnhltnf avlmahvevk hsdavhdlll dvitwvgill slvcllicif
      961 tfcffrglqs drntihknlc islfvaellf liginrtdqp iacavfaall hffflaaftw
     1021 mflegvqlyi mlvevfeseh srrkyfylvg ygmpalivav saavdyrsyg tdkvcwlrld
     1081 tyfiwsfigp atliimlnvi flgialykmf hhtailkpes gcldnikswv igaiallcll
     1141 gltwafglmy inestvimay lftifnslqg mfififhcvl qkkvrkeygk clrthccsgk
     1201 stessigsgk tsgsrtpgry stgsqsrirr mwndtvrkqs essfitgdin ssaslnregl
     1261 lnnardtsvm dtlplngnhg nsysiasgey lsncvqiidr gynhnetale kkilkeltsn
     1321 yipsylnnhe rsseqnrnlm nklvnnlgsg reddaivldd atsfnheesl gleliheesd
     1381 apllpprvys tenhqphhyt rrripqdhse sffplltneh tedlqsphrd slytsmptla
     1441 gvaatesvtt stqtepppak cgdaedvyyk smpnlgsrnh vhqlhtyyql grgssdgfiv
     1501 ppnkdgtppe gsskgpahlv tsl
//
LOCUS       XP_054207406             352 aa            linear   PRI 20-MAR-2023
DEFINITION  follistatin isoform X2 [Homo sapiens].
ACCESSION   XP_054207406
VERSION     XP_054207406.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351431.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..352
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..352
                     /product="follistatin isoform X2"
                     /calculated_mol_wt=38753
     CDS             1..352
                     /gene="FST"
                     /gene_synonym="FS"
                     /coded_by="XM_054351431.1:185..1243"
                     /db_xref="GeneID:10468"
                     /db_xref="HGNC:HGNC:3971"
                     /db_xref="MIM:136470"
ORIGIN      
        1 mgrikvnslv kvnasctccv wvtagncwlr qakngrcqvl yktelskeec cstgrlstsw
       61 teedvndntl fkwmifngga pncipcketc envdcgpgkk crmnkknkpr cvcapdcsni
      121 twkgpvcgld gktyrnecal lkarckeqpe levqyqgrck ktcrdvfcpg sstcvvdqtn
      181 naycvtcnri cpepasseqy lcgndgvtys sachlrkatc llgrsiglay egkcisrysg
      241 lrkekektea kscediqctg gkkclwdfkv grgrcslcde lcpdsksdep vcasdnatya
      301 secamkeaac ssgvllevkh sgscnsised teeeeededq dysfpissil ew
//
LOCUS       XP_054207870             480 aa            linear   PRI 20-MAR-2023
DEFINITION  poly(A) RNA polymerase GLD2 isoform X4 [Homo sapiens].
ACCESSION   XP_054207870
VERSION     XP_054207870.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351895.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..480
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..480
                     /product="poly(A) RNA polymerase GLD2 isoform X4"
                     /calculated_mol_wt=55371
     CDS             1..480
                     /gene="TENT2"
                     /gene_synonym="APD4; GLD2; PAPD4; TUT2"
                     /coded_by="XM_054351895.1:521..1963"
                     /db_xref="GeneID:167153"
                     /db_xref="HGNC:HGNC:26776"
                     /db_xref="MIM:614121"
ORIGIN      
        1 mfpnsilgrp pftpnhqqhn nfftlsptvy shqqlidaqf nfqnadlsra vslqqltygn
       61 vspiqtsasp lfrgrkrlsd eknlpldgkr qrfhsphqep tvvnqivpls gerrysmppl
      121 fhthyvpdiv rcvppfreia flepreitlp eakdklsqqi lelfetcqqq isdlkkkelc
      181 rtqlqreiql lfpqsrlflv gsslngfgtr ssdgdlclvv keepvnqkte arhiltlvhk
      241 hfctrlsgyi erpqlirakv pivkfrdkvs cvefdlnvnn ivgirntfll rtyaylenrv
      301 rplvlvikkw ashhqindas rgtlssyslv lmvlhylqtl pepilpslqk iypesfspai
      361 qlhlvhqapc nvppylskne snlgdlllgf lkyyatefdw nsqmisvrea kaiprpdgie
      421 wrnkyicvee pfdgtntara vhekqkfdmi kdqflkswhr lknkrdlnsi lpvraavlkr
//
LOCUS       XP_054208350             232 aa            linear   PRI 20-MAR-2023
DEFINITION  hepatitis A virus cellular receptor 1 isoform X6 [Homo sapiens].
ACCESSION   XP_054208350
VERSION     XP_054208350.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352375.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..232
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..232
                     /product="hepatitis A virus cellular receptor 1 isoform
                     X6"
                     /calculated_mol_wt=25644
     CDS             1..232
                     /gene="HAVCR1"
                     /gene_synonym="CD365; HAVCR; HAVCR-1; KIM-1; KIM1; TIM;
                     TIM-1; TIM1; TIMD-1; TIMD1"
                     /coded_by="XM_054352375.1:155..853"
                     /db_xref="GeneID:26762"
                     /db_xref="HGNC:HGNC:17866"
                     /db_xref="MIM:606518"
ORIGIN      
        1 msipttttvp ttmtvsttts vptttsiptt tsvpvttavs tfvppmplpr qnhepvatsp
       61 sspqpaethp ttlqgairre ptssplysyt tdgndtvtes sdglwnnnqt qlflehsllt
      121 anttkgiyag vcisvlvlla llgviiakmf hlaafklklc kmqlkrkskq ktistlrivf
      181 mprtktqwcs lrvyahecrr lnrhqhirrl ldpktiflfq fhlafqhvsd tg
//
LOCUS       XP_054211259            2446 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor HIVEP2 isoform X1 [Homo sapiens].
ACCESSION   XP_054211259
VERSION     XP_054211259.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355284.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2446
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2446
                     /product="transcription factor HIVEP2 isoform X1"
                     /calculated_mol_wt=268907
     CDS             1..2446
                     /gene="HIVEP2"
                     /gene_synonym="HIV-EP2; MBP-2; MIBP1; MRD43; SHN2; ZAS2;
                     ZNF40B"
                     /coded_by="XM_054355284.1:1292..8632"
                     /db_xref="GeneID:3097"
                     /db_xref="HGNC:HGNC:4921"
                     /db_xref="MIM:143054"
ORIGIN      
        1 mdtgdtalgq katsrsgetd kasgrwrqeq savikmstfg shegqrqpqi epeqigntas
       61 aqlfgsgkla spsevvqqva ekqypphrps pyscqhslsf pqhslpqgvm hstkphqsle
      121 gppwlfpgpl psvasedlfp fpihghsggy prkkisslnp aysqysqksi eqaeeahkke
      181 hkpkkpgkyi cpycsracak psvlkkhirs htgerpypci pcgfsfktks nlykhrksha
      241 haikaglvpf tesavskldl eagfidveae ihsdgeqstd tdeesslfae asdkmspgpp
      301 ipldiasrgg yhgsleeslg gpmkvpilii pksgiplpne ssqyigpdml pnpslntkad
      361 dshtvkqkla lrlsekkgqd sepslnllsp hskgstdsgy fsrsesaeqq isppntnaks
      421 yeeiifgkyc rlsprnalsv tttsqeraam grkgimeplp hvntrldvkm fedpvsqlip
      481 skgdvdpsqt smlkstkfns esrqpqiips sirnegklyp anfqgsnpvl leapvdsspl
      541 irsnsvptss atnltippsl rgshsfderm tgsddvfypg tvgippqrml rrqaafelps
      601 vqeghveveh hgrmlkgiss sslkekklsp gdrvgydydv crkpykkwed setpkqnyrd
      661 isclsslkhg geyfmdpvvp lqgvpsmfgt tcenrkrrke ksvgdeedtp micssivstp
      721 vgimasdydp klqmqegvrs gfamaghenl shghterfdp crpqlqpgsp slvseespsa
      781 idsdkmsdlg grkppgnvis viqhtnslsr pnsfersesa elvactqdka pspsetcdse
      841 iseapvspew appgdgaesg gkpspsqqvq qqsyhtqprl vrqhniqvpe irvteepdkp
      901 ekekeaqske pekpveefqw pqrsetlsql paeklppkkk rlrladmehs sgessfestg
      961 tglsrspsqe snlshsssfs msfereetsk lsalpkqdef gkhsefltvp agsyslsvpg
     1021 hhhqkemrrc sseqmpcphp aevpevrsks fdygnlshap vsgaaastvs psrerkkcfl
     1081 vrqasfsgsp eisqgevgmd qsvkqeqleh lhaglrsgwh hgppavlppl qqedpgkqva
     1141 gpcpplssgp lhlaqpqimh mdsqeslrnp liqptsymts khlpeqphlf phqetipfsp
     1201 iqnalfqfqy ptvcmvhlpa qqppwwqahf phpfaqhpqk sygkpsfqte ihssyplehv
     1261 aehtgkkpae yahtkeqtyp cysgasglhp knllpkfpsd qsskstetps eqvlqedfas
     1321 anagslqslp gtvvpvriqt hvpsygsvmy tsisqilgqn spaivickvd enmtqrtlvt
     1381 naamqgigfn iaqvlgqhag lekypiwkap qtlplgless iplclpstsd svatlggskr
     1441 mlspasslel fmetkqqkrv keekmygqiv eelsaveltn sdikkdlsrp qkpqlvrqgc
     1501 asepkdglqs gsssfsslsp sssqdypsvs pssrepfpps kemlsgsrap lpgqkssgps
     1561 eskessdeld idetasdmsm spqssslpag dgqleeegkg hkrpvgmlvr masapsgnva
     1621 dstllltdma dfqqilqfps lrttttvswc flnytkpnyv qqatfkssvy aswcisscnp
     1681 npsglntktt lallrskqki taeiytlaam hrpgtgklts ssawkqftqm kpdasflfgs
     1741 klerklvgni lkergkgdih gdkdigskqt epirikifeg gyksnedyvy vrgrgrgkyi
     1801 ceecgirckk psmlkkhirt htdvrpyvck lcnfafktkg nltkhmkska hmkkclelgv
     1861 smtsvddtet eeaenledlh kaaekhsmss istdhqfsda eesdgedgdd nddddededd
     1921 fddqgdltpk trsrstspqp prfsslpvnv gavphgvpsd sslghsslis ylvtlpsirv
     1981 tqlmtpsdsc edtqmteyqr lfqskstdse pdkdrldips cmdeecmlps epsssprdfs
     2041 psshhsspgy dsspcrdnsp krylipkgdl sprrhlsprr dlspmrhlsp rkeaalrrem
     2101 sqrdvsprrh lsprrpvspg kditarrdls prrerrymtt irapsprral yhnpplsmgq
     2161 ylqaepivlg ppnlrrglpq vpyfslygdq egayehpgss lfpegpndyv fshlplhsqq
     2221 qvrapipmvp vggiqmvhsm ppalsslhps ptlplpmegf eekkgasges fskdpyvlsk
     2281 qhekrgphal qssgppstps sprllmkqst sedslnater eqeeniqtct kaiaslriat
     2341 eeaallgpdq parvqephqn plgsahvsir hfsrpepgqp ctsathpdlh dgekdnfgts
     2401 qtplahstfy skscvddkql dfhsskelss steeskdpss eksqlh
//
LOCUS       XP_054213038             925 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleotide-binding oligomerization domain-containing protein 1
            isoform X3 [Homo sapiens].
ACCESSION   XP_054213038
VERSION     XP_054213038.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357063.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..925
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..925
                     /product="nucleotide-binding oligomerization
                     domain-containing protein 1 isoform X3"
                     /calculated_mol_wt=104577
     CDS             1..925
                     /gene="NOD1"
                     /gene_synonym="CARD4; CLR7.1; NLRC1"
                     /coded_by="XM_054357063.1:835..3612"
                     /db_xref="GeneID:10392"
                     /db_xref="HGNC:HGNC:16390"
                     /db_xref="MIM:605980"
ORIGIN      
        1 meeqghseme iipseshphi qllksnrell vthirntqcl vdnllkndyf saedaeivca
       61 cptqpdkvrk ildlvqskge evsefflyll qqladayvdl rpwlleigfs pslltqskvv
      121 vntdpvsryt qqlrhhlgrd skfvlcyaqk eellleeiym dtimelvgfs neslgslnsl
      181 aclldhttgi lneqgetifi lgdagvgksm llqrlqslwa tgrldagvkf ffhfrcrmfs
      241 cfkesdrlcl qdllfkhycy perdpeevfa fllrfphval ftfdgldelh sdldlsrvpd
      301 sscpwepahp lvllanllsg kllkgaskll tartgievpr qflrkkvllr gfspshlray
      361 arrmfperal qdrllsqlea npnlcslcsv plfcwiifrc fqhfraafeg spqlpdctmt
      421 ltdvfllvte vhlnrmqpss lvqrntrspv etlhagrdtl cslgqvahrg mekslfvftq
      481 eevqasglqe rdmqlgflra lpelgpggdq qsyeffhltl qafftafflv lddrvgtqel
      541 lrffqewmpp agaattscyp pflpfqclqg sgparedlfk nkdhfqftnl flcgllskak
      601 qkllrhlvpa aalrrkrkal wahlfsslrg ylkslprvqv esfnqvqamp tfiwmlrciy
      661 etqsqkvgql aargicanyl kltycnacsa dcsalsfvlh hfpkrlaldl dnnnlndygv
      721 relqpcfsrl tvlrlsvnqi tdggvkvlse eltkykivty lglynnqitd vgaryvtkil
      781 deckglthlk lgknkitseg gkylalavkn sksisevgla sngisteggk slaralqqnt
      841 sleilwltqn elndevaesl aemlkvnqtl khlwliqnqi takgtaqlad alqsntgite
      901 iclngnlikp eeakvyedek riicf
//
LOCUS       XP_054217959             622 aa            linear   PRI 20-MAR-2023
DEFINITION  carnitine O-acetyltransferase isoform X2 [Homo sapiens].
ACCESSION   XP_054217959
VERSION     XP_054217959.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361984.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 15% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..622
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..622
                     /product="carnitine O-acetyltransferase isoform X2"
                     /calculated_mol_wt=70484
     CDS             1..622
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /coded_by="XM_054361984.1:449..2317"
                     /db_xref="GeneID:1384"
                     /db_xref="HGNC:HGNC:2342"
                     /db_xref="MIM:600184"
ORIGIN      
        1 mqrrkvkplg flkpfslmka ssrfkahqda lprlpvpplq qsldhylkal qpivseeewa
       61 htkqlvdefq asggvgerlq kglerrarkt enwlsewwlk taylqyrqpv viysspgvml
      121 pkqdfvdlqg qlrfaaklie gvldfkvmid netlpveylg gkplcmnqyy qilsscrvpg
      181 pkqdtvsnfs ktkkppthit vvhnyqffel dvyhsdgtpl tadqifvqle kiwnsslqtn
      241 kepvgiltsn hrnswakayn tlikdkvnrd svrsiqksif tvcldatmpr vsedvyrshv
      301 agqmlhgggs rlnsgnrwfd ktlqfivaed gscglvyeha aaegppivtl ldyvieytkk
      361 pelvrspmvp lpmpkklrfn itpeiksdie kakqnlsimi qdlditvmvf hhfgkdfpks
      421 eklspdafiq malqlayyri ygqacatyes aslrmfhlgr tdtirsasmd sltfvkamdd
      481 ssvtehqkve llrkavqahr gytdrairge afdrhllglk lqaiedlvsm pdifmdtsya
      541 iamhfhlsts qvpaktdcvm ffgpvvpdgy gvcynpmeah infslsayns caetnaarla
      601 hylekalldm rallqshpra kl
//
LOCUS       XP_054219311             886 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine nucleotide exchange factor subunit RIC1 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054219311
VERSION     XP_054219311.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363336.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..886
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..886
                     /product="guanine nucleotide exchange factor subunit RIC1
                     isoform X6"
                     /calculated_mol_wt=99360
     CDS             1..886
                     /gene="RIC1"
                     /gene_synonym="bA207C16.1; CATIFA; CIP150; KIAA1432"
                     /coded_by="XM_054363336.1:140..2800"
                     /db_xref="GeneID:57589"
                     /db_xref="HGNC:HGNC:17686"
                     /db_xref="MIM:610354"
ORIGIN      
        1 mivtgglaww ndfmvlacyn indrqeelrv ylrtsnldna fahvtkaqae tlllsvfqdm
       61 vivfradcsi clysierksd gpnttagiqv lqevsmsryi phpflvvsvt ltsvstengi
      121 tlkmpqqarg aesimlnlag qlimmqrdrs gpqirekdsn pnnqrkllpf cppvvlaqsv
      181 envwttcran kqkrhlleal wlscggagmk vwlplfprdh rkphsflsqr imlpfhiniy
      241 plavlfedal vlgavndtll ydslytrnna reqlevlfpf cvvertsqiy lhhilrqllv
      301 rnlgeqalll aqscatlpyf phvlelmlhe vleeeatsre pipdpllptv akfitefplf
      361 lqtvvhcark teyalwnylf aavgnpkdlf eeclmaqdld taasyliilq nmevpavsrq
      421 hatllfntal eqgkwdlcrh mirflkaigs gesetppstp taqepsssgg feffrnrsis
      481 lsqsaenvpa skfslqktls mpsgpsgkrw skdsdcaenm yidmmlwrha rrlledvrlk
      541 dlgcfaaqlg feliswlcke rtraarvdnf vialkrlhkd flwplpiipa ssisspfkng
      601 kyrtvgeqll ksqsadpfln lemdagisni qrsqswlsni gpthheidta sshgpqmqda
      661 flsplsnkgd ecsigsatdl tesssmvdgd wtmvdenfst lsltqseleh ismelaskgp
      721 hksqvqlryl lhifmeagcl dwciviglil ressiinqil vitqssevdg emlqniktgl
      781 havdrwastd cpgykpflni ikpqlqklse iteeqvqpda fqpitmgktp eqtspraees
      841 rgssshgsip qgevgssnmv srkeedtaqa eeeepfqdgt ydcsvs
//
LOCUS       XP_054183185             253 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylinositol N-acetylglucosaminyltransferase subunit A
            isoform X1 [Homo sapiens].
ACCESSION   XP_054183185
VERSION     XP_054183185.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327210.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..253
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..253
                     /product="phosphatidylinositol
                     N-acetylglucosaminyltransferase subunit A isoform X1"
                     /calculated_mol_wt=28287
     CDS             1..253
                     /gene="PIGA"
                     /gene_synonym="GPI3; MCAHS2; NEDEPH; PIG-A; PNH1"
                     /coded_by="XM_054327210.1:2406..3167"
                     /db_xref="GeneID:5277"
                     /db_xref="HGNC:HGNC:8957"
                     /db_xref="MIM:311770"
ORIGIN      
        1 mklslregid llsgiipelc qkypdlnfii ggegpkriil eevreryqlh drvrllgale
       61 hkdvrnvlvq ghiflntslt eafcmaivea ascglqvvst rvggipevlp enliilceps
      121 vkslceglek aifqlksgtl papenihniv ktfytwrnva ertekvydrv sveavlpmdk
      181 rldrlishcg pvtgyifall avfnflflif lrwmtpdsii dvaidatgpr gawtnnyshs
      241 krggenneis etr
//
LOCUS       NP_001269070             966 aa            linear   PRI 22-MAR-2023
DEFINITION  hephaestin isoform d precursor [Homo sapiens].
ACCESSION   NP_001269070 XP_005262373
VERSION     NP_001269070.2
DBSOURCE    REFSEQ: accession NM_001282141.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 966)
  AUTHORS   Aslan ES, Aydin H, Tekin YK, Keles S, White KN and Hekim N.
  TITLE     Association between iron metabolism and SARS-COV-2 infection,
            determined by ferritin, hephaestin and hypoxia-induced factor-1
            alpha levels in COVID-19 patients
  JOURNAL   Mol Biol Rep 50 (3), 2471-2478 (2023)
   PUBMED   36600108
  REMARK    GeneRIF: Association between iron metabolism and SARS-COV-2
            infection, determined by ferritin, hephaestin and hypoxia-induced
            factor-1 alpha levels in COVID-19 patients.
REFERENCE   2  (residues 1 to 966)
  AUTHORS   Kondaiah P, Sharp PA and Pullakhandam R.
  TITLE     Zinc induces iron egress from intestinal Caco-2 cells via induction
            of Hephaestin: A role for PI3K in intestinal iron absorption
  JOURNAL   Biochem Biophys Res Commun 523 (4), 987-992 (2020)
   PUBMED   31973819
  REMARK    GeneRIF: Zinc induces iron egress from intestinal Caco-2 cells via
            induction of Hephaestin: A role for PI3K in intestinal iron
            absorption.
REFERENCE   3  (residues 1 to 966)
  AUTHORS   Dlouhy AC, Bailey DK, Steimle BL, Parker HV and Kosman DJ.
  TITLE     Fluorescence resonance energy transfer links membrane ferroportin,
            hephaestin but not ferroportin, amyloid precursor protein complex
            with iron efflux
  JOURNAL   J Biol Chem 294 (11), 4202-4214 (2019)
   PUBMED   30647129
  REMARK    GeneRIF: Iron supplementation increased surface expression of the
            iron-efflux complex, and copper depletion knocked down hephaestin
            (Heph) activity and decreased ferroportin (Fpn) membrane
            localization.
REFERENCE   4  (residues 1 to 966)
  AUTHORS   Wierzbicka,D. and Gromadzka,G.
  TITLE     [Ceruloplasmin, hephaestin and zyklopen: the three multicopper
            oxidases important for human iron metabolism]
  JOURNAL   Postepy Hig Med Dosw (Online) 68, 912-924 (2014)
   PUBMED   24988611
  REMARK    GeneRIF: This review describes function of hephaestin as
            ferroxidase is essential for iron binding to apotransferrin in the
            lamina propria of the intestinal mucosa, a process that is
            important for further transport of iron to the liver by the portal
            vein.
            Review article
REFERENCE   5  (residues 1 to 966)
  AUTHORS   McCarthy RC and Kosman DJ.
  TITLE     Ferroportin and exocytoplasmic ferroxidase activity are required
            for brain microvascular endothelial cell iron efflux
  JOURNAL   J Biol Chem 288 (24), 17932-17940 (2013)
   PUBMED   23640881
  REMARK    GeneRIF: Iron efflux from human brain microvasculature endothelial
            cells ferroportin requires the action of an exocytoplasmic
            ferroxidase which can be either endogenous hephaestin or
            extracellular ceruloplasmin.
REFERENCE   6  (residues 1 to 966)
  AUTHORS   Zoller H, Theurl I, Koch RO, McKie AT, Vogel W and Weiss G.
  TITLE     Duodenal cytochrome b and hephaestin expression in patients with
            iron deficiency and hemochromatosis
  JOURNAL   Gastroenterology 125 (3), 746-754 (2003)
   PUBMED   12949720
REFERENCE   7  (residues 1 to 966)
  AUTHORS   Syed BA, Beaumont NJ, Patel A, Naylor CE, Bayele HK, Joannou CL,
            Rowe PS, Evans RW and Srai SK.
  TITLE     Analysis of the human hephaestin gene and protein: comparative
            modelling of the N-terminus ecto-domain based upon ceruloplasmin
  JOURNAL   Protein Eng 15 (3), 205-214 (2002)
   PUBMED   11932491
  REMARK    GeneRIF: The gene structure, spanning approximately 100 kb, was
            assembled from the cDNA clones and the chromosome X genomic
            sequence data. Modelling supports its role as a membrane-tethered
            ferroxidase.
REFERENCE   8  (residues 1 to 966)
  AUTHORS   Simovich MJ, Conrad ME, Umbreit JN, Moore EG, Hainsworth LN and
            Smith HK.
  TITLE     Cellular location of proteins related to iron absorption and
            transport
  JOURNAL   Am J Hematol 69 (3), 164-170 (2002)
   PUBMED   11891802
  REMARK    GeneRIF: location was observed on or near the cell surface
            suggesting it might participate in surface membrane transport of
            iron
REFERENCE   9  (residues 1 to 966)
  AUTHORS   Schueler MG, Higgins AW, Nagaraja R, Tentler D, Dahl N, Gustashaw K
            and Willard HF.
  TITLE     Large-insert clone/STS contigs in Xq11-q12, spanning deletions in
            patients with androgen insensitivity and mental retardation
  JOURNAL   Genomics 66 (1), 104-109 (2000)
   PUBMED   10843811
REFERENCE   10 (residues 1 to 966)
  AUTHORS   Vulpe CD, Kuo YM, Murphy TL, Cowley L, Askwith C, Libina N,
            Gitschier J and Anderson GJ.
  TITLE     Hephaestin, a ceruloplasmin homologue implicated in intestinal iron
            transport, is defective in the sla mouse
  JOURNAL   Nat Genet 21 (2), 195-199 (1999)
   PUBMED   9988272
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL030998.1, KF459144.1 and
            AL157698.8.
            On Apr 13, 2021 this sequence version replaced NP_001269070.1.
            
            Summary: This gene encodes a member of the multicopper oxidase
            protein family. The encoded protein is involved in the transport of
            dietary iron from epithelial cells of the intestinal lumen into the
            circulatory system, and may be involved in copper transport and
            homeostasis. In mouse, defects in this gene can lead to severe
            microcytic anemia. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (4) contains an alternate 5'-most
            exon, lacks three consecutive exons in the central coding region,
            and initiates translation at a downstream start codon, compared to
            variant 1. The resulting isoform (d) is shorter, compared to
            isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK307761.1, SRR18074967.945378.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147975, SAMEA2151741
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..966
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq12"
     Protein         1..966
                     /product="hephaestin isoform d precursor"
                     /calculated_mol_wt=106723
     sig_peptide     1..23
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2674
     Region          26..208
                     /region_name="CuRO_1_ceruloplasmin"
                     /note="The first cupredoxin domain of Ceruloplasmin;
                     cd04222"
                     /db_xref="CDD:259884"
     Site            order(26,28,34,36..37,39..40,53..54,57..58,60..62,64..69,
                     72..76,94..99,104,121,123,176,179..184,193..197,200,202)
                     /site_type="other"
                     /note="Domain 2 interface [polypeptide binding]"
                     /db_xref="CDD:259884"
     Site            order(126,128..129,132,134,137,141,143,170..172,174,177,
                     183,186,188,190,192)
                     /site_type="other"
                     /note="Domain 6 interface [polypeptide binding]"
                     /db_xref="CDD:259884"
     Site            164
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9BQS7.3)"
     Region          223..363
                     /region_name="CuRO_2_ceruloplasmin"
                     /note="The second cupredoxin domain of Ceruloplasmin;
                     cd11021"
                     /db_xref="CDD:259907"
     Site            order(225..227,229,233..235,237..240,243..245,248..251,
                     254..255,264..266,268..269,272..282,293..295,297,317,
                     330..332,344,353..355,358)
                     /site_type="other"
                     /note="Domain 1 interface [polypeptide binding]"
                     /db_xref="CDD:259907"
     Site            236
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9BQS7.3)"
     Site            order(298..300,318,326..330)
                     /site_type="other"
                     /note="Domain 6 interface [polypeptide binding]"
                     /db_xref="CDD:259907"
     Site            order(303,305,307,318,322,324,326,348..352,354)
                     /site_type="other"
                     /note="Domain 4 interface [polypeptide binding]"
                     /db_xref="CDD:259907"
     Site            order(307,312,318..319,321,338..339,342..344,348,350,
                     353..354,360)
                     /site_type="other"
                     /note="Domain 3 interface [polypeptide binding]"
                     /db_xref="CDD:259907"
     Region          377..720
                     /region_name="Cupredoxin"
                     /note="Cupredoxin superfamily; cl19115"
                     /db_xref="CDD:450256"
     Region          541..713
                     /region_name="CuRO_5_ceruloplasmin"
                     /note="The fifth cupredoxin domain of Ceruloplasmin;
                     cd04225"
                     /db_xref="CDD:259887"
     Site            order(549,551..557,560..561,575..578,580,582..592,
                     613..618,621,623,638,640,642,647,681..683,685,687,689,695,
                     698..702,705..707,709)
                     /site_type="other"
                     /note="Domain 6 interface [polypeptide binding]"
                     /db_xref="CDD:259887"
     Site            order(647..648,650..651,674..682,688,691,696..697,701)
                     /site_type="other"
                     /note="Domain 4 interface [polypeptide binding]"
                     /db_xref="CDD:259887"
     Region          728..871
                     /region_name="Cupredoxin"
                     /note="Cupredoxin superfamily; cl19115"
                     /db_xref="CDD:450256"
     CDS             1..966
                     /gene="HEPH"
                     /gene_synonym="CPL"
                     /coded_by="NM_001282141.3:238..3138"
                     /note="isoform d precursor is encoded by transcript
                     variant 4"
                     /db_xref="CCDS:CCDS65277.2"
                     /db_xref="GeneID:9843"
                     /db_xref="HGNC:HGNC:4866"
                     /db_xref="MIM:300167"
ORIGIN      
        1 mesghllwal lfmqslwpql tdgatrvyyl girdvqwnya pkgrnvitnq pldsdivass
       61 flksdknrig gtykktiyke ykddsytdev aqpawlgflg pvlqaevgdv ilihlknfat
      121 rpytihphgv fyekdsegsl ypdgssgplk addsvppggs hiynwtipeg haptdadpac
      181 ltwiyhshvd aprdiatgli gplitckrga ldgnsppqrq dvdhdffllf svvdenlswh
      241 lneniatycs dpasvdkede tfqesnrmha ingfvfgnlp elnmcaqkrv awhlfgmgne
      301 idvhtaffhg qmlttrghht dvanifpatf vtaemvpwep gtwliscqvn shfrdgmqal
      361 ykvkscsmap pvdlltgkvr qyfieaheiq wdygpmghdg stgknlrepg sisdkffqks
      421 ssriggtywk vryeafqdet fqekmhleed rhlgilgpvi raevgdtiqv vfynrasqpf
      481 smqphgvfye kdyegtvynd gtfeiycqag shreagmrai ynvsqcpghq atprqryqaa
      541 riyyimaeev ewdycpdrsw erewhnqsek dsygyiflsn kdgllgsryk kavfreytdg
      601 tfriprprtg peehlgilgp likgevgdil tvvfknnasr pysvhahgvl esttvwplaa
      661 epgevvtyqw nipersgpgp ndsacvswiy ysavdpikdm ysglvgplai cqkgilephg
      721 grsdmdrefa llflifdenk swyleenvat hgsqdpgsin lqdetflesn kmhaingkly
      781 anlrgltmyq gervawymla mgqdvdlhti hfhaesflyr ngenyradvv dlfpgtfevv
      841 emvasnpgtw lmhchvtdhv hagmetlftv fsrtehlspl tvitketeka vpprdieegn
      901 vkmlgmqipi knvemlasvl vaisvtlllv vlalggvvwy qhrqrklrrn rrsilddsfk
      961 llsfkq
//
LOCUS       NP_061486               1111 aa            linear   PRI 23-MAR-2023
DEFINITION  laminin subunit gamma-2 isoform b precursor [Homo sapiens].
ACCESSION   NP_061486
VERSION     NP_061486.2
DBSOURCE    REFSEQ: accession NM_018891.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1111)
  AUTHORS   He Y, Xiao B, Lei T, Xuan J, Zhu Y, Kuang Z, Liu J, He J, Li L and
            Sun Z.
  TITLE     LncRNA T376626 is a promising serum biomarker and promotes
            proliferation, migration, and invasion via binding to LAMC2 in
            triple-negative breast cancer
  JOURNAL   Gene 860, 147227 (2023)
   PUBMED   36709879
  REMARK    GeneRIF: LncRNA T376626 is a promising serum biomarker and promotes
            proliferation, migration, and invasion via binding to LAMC2 in
            triple-negative breast cancer.
REFERENCE   2  (residues 1 to 1111)
  AUTHORS   Erice O, Narayanan S, Feliu I, Entrialgo-Cadierno R, Malinova A,
            Vicentini C, Guruceaga E, Delfino P, Trajkovic-Arsic M, Moreno H,
            Valencia K, Blanco E, Macaya I, Ohlund D, Khatri P, Lecanda F,
            Scarpa A, Siveke JT, Corbo V, Ponz-Sarvise M and Vicent S.
  TITLE     LAMC2 Regulates Key Transcriptional and Targetable Effectors to
            Support Pancreatic Cancer Growth
  JOURNAL   Clin Cancer Res 29 (6), 1137-1154 (2023)
   PUBMED   36607777
  REMARK    GeneRIF: LAMC2 Regulates Key Transcriptional and Targetable
            Effectors to Support Pancreatic Cancer Growth.
REFERENCE   3  (residues 1 to 1111)
  AUTHORS   Fu T, Liu JX, Xie J, Gao Z and Yang Z.
  TITLE     LAMC2 as a prognostic biomarker in human cancer: a systematic
            review and meta-analysis
  JOURNAL   BMJ Open 12 (11), e063682 (2022)
   PUBMED   36396303
  REMARK    GeneRIF: LAMC2 as a prognostic biomarker in human cancer: a
            systematic review and meta-analysis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1111)
  AUTHORS   Cave DD, Buonaiuto S, Sainz B Jr, Fantuz M, Mangini M, Carrer A, Di
            Domenico A, Iavazzo TT, Andolfi G, Cortina C, Sevillano M, Heeschen
            C, Colonna V, Corona M, Cucciardi A, Di Guida M, Batlle E, De Luca
            A and Lonardo E.
  TITLE     LAMC2 marks a tumor-initiating cell population with an aggressive
            signature in pancreatic cancer
  JOURNAL   J Exp Clin Cancer Res 41 (1), 315 (2022)
   PUBMED   36289544
  REMARK    GeneRIF: LAMC2 marks a tumor-initiating cell population with an
            aggressive signature in pancreatic cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1111)
  AUTHORS   Kirtonia A, Pandey AK, Ramachandran B, Mishra DP, Dawson DW, Sethi
            G, Ganesan TS, Koeffler HP and Garg M.
  TITLE     Overexpression of laminin-5 gamma-2 promotes tumorigenesis of
            pancreatic ductal adenocarcinoma through EGFR/ERK1/2/AKT/mTOR
            cascade
  JOURNAL   Cell Mol Life Sci 79 (7), 362 (2022)
   PUBMED   35699794
  REMARK    GeneRIF: Overexpression of laminin-5 gamma-2 promotes tumorigenesis
            of pancreatic ductal adenocarcinoma through EGFR/ERK1/2/AKT/mTOR
            cascade.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1111)
  AUTHORS   Baudoin C, Miquel C, Gagnoux-Palacios L, Pulkkinen L, Christiano
            AM, Uitto J, Tadini G, Ortonne JP and Meneguzzi G.
  TITLE     A novel homozygous nonsense mutation in the LAMC2 gene in patients
            with the Herlitz junctional epidermolysis bullosa
  JOURNAL   Hum Mol Genet 3 (10), 1909-1910 (1994)
   PUBMED   7849725
REFERENCE   7  (residues 1 to 1111)
  AUTHORS   Gedde-Dahl T Jr, Dupuy BM, Jonassen R, Winberg JO, Anton-Lamprecht
            I and Olaisen B.
  TITLE     Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to
            1q31 by linkage and association to LAMC1
  JOURNAL   Hum Mol Genet 3 (8), 1387-1391 (1994)
   PUBMED   7987320
REFERENCE   8  (residues 1 to 1111)
  AUTHORS   Burgeson RE, Chiquet M, Deutzmann R, Ekblom P, Engel J, Kleinman H,
            Martin GR, Meneguzzi G, Paulsson M, Sanes J et al.
  TITLE     A new nomenclature for the laminins
  JOURNAL   Matrix Biol 14 (3), 209-211 (1994)
   PUBMED   7921537
REFERENCE   9  (residues 1 to 1111)
  AUTHORS   Pfendner,E.G. and Lucky,A.W.
  TITLE     Junctional Epidermolysis Bullosa
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301304
REFERENCE   10 (residues 1 to 1111)
  AUTHORS   Kallunki P, Sainio K, Eddy R, Byers M, Kallunki T, Sariola H, Beck
            K, Hirvonen H, Shows TB and Tryggvason K.
  TITLE     A truncated laminin chain homologous to the B2 chain: structure,
            spatial expression, and chromosomal assignment
  JOURNAL   J Cell Biol 119 (3), 679-693 (1992)
   PUBMED   1383240
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354953.16 and BC113378.1.
            On Sep 21, 2007 this sequence version replaced NP_061486.1.
            
            Summary: Laminins, a family of extracellular matrix glycoproteins,
            are the major noncollagenous constituent of basement membranes.
            They have been implicated in a wide variety of biological processes
            including cell adhesion, differentiation, migration, signaling,
            neurite outgrowth and metastasis. Laminins, composed of 3 non
            identical chains: laminin alpha, beta and gamma (formerly A, B1,
            and B2, respectively), have a cruciform structure consisting of 3
            short arms, each formed by a different chain, and a long arm
            composed of all 3 chains. Each laminin chain is a multidomain
            protein encoded by a distinct gene. Several isoforms of each chain
            have been described. Different alpha, beta and gamma chain isomers
            combine to give rise to different heterotrimeric laminin isoforms
            which are designated by Arabic numerals in the order of their
            discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The
            biological functions of the different chains and trimer molecules
            are largely unknown, but some of the chains have been shown to
            differ with respect to their tissue distribution, presumably
            reflecting diverse functions in vivo. This gene encodes the gamma
            chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought
            to be a truncated version of beta chain (B2t), is highly homologous
            to the gamma 1 chain; however, it lacks domain VI, and domains V,
            IV and III are shorter. It is expressed in several fetal tissues
            but differently from gamma 1, and is specifically localized to
            epithelial cells in skin, lung and kidney. The gamma 2 chain
            together with alpha 3 and beta 3 chains constitute laminin 5
            (earlier known as kalinin), which is an integral part of the
            anchoring filaments that connect epithelial cells to the underlying
            basement membrane. The epithelium-specific expression of the gamma
            2 chain implied its role as an epithelium attachment molecule, and
            mutations in this gene have been associated with junctional
            epidermolysis bullosa, a skin disease characterized by blisters due
            to disruption of the epidermal-dermal junction. Two transcript
            variants resulting from alternative splicing of the 3' terminal
            exon, and encoding different isoforms of gamma 2 chain, have been
            described. The two variants are differentially expressed in
            embryonic tissues, however, the biological significance of the two
            forms is not known. Transcript variants utilizing alternative
            polyA_signal have also been noted in literature. [provided by
            RefSeq, Aug 2011].
            
            Transcript Variant:  This variant (2) represents a shorter
            transcript variant, compared to variant 1, and encodes a shorter
            isoform (b). Transcript variant 2, unlike variant 1, has limited
            expression only in the embryonic cerebral cortex, lung and distal
            tubules of the kidney.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Z15009.1, BC113378.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1111
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.3"
     Protein         1..1111
                     /product="laminin subunit gamma-2 isoform b precursor"
                     /note="BM600-100kDa; laminin B2t chain; CSF 140 kDa
                     subunit; nicein subunit gamma; kalinin subunit gamma;
                     ladsin 140 kDa subunit; epiligrin subunit gamma;
                     cell-scattering factor 140 kDa subunit; large adhesive
                     scatter factor 140 kDa subunit; laminin, gamma 2"
                     /calculated_mol_wt=119373
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2250
     mat_peptide     22..1111
                     /product="laminin subunit gamma-2 isoform b"
                     /calculated_mol_wt=119373
     Region          28..78
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(28,30,37,53,56,65)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          83..127
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(84,86,96,102,104,113)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          139..184
                     /region_name="Laminin_EGF"
                     /note="Laminin EGF domain; pfam00053"
                     /db_xref="CDD:395007"
     Site            order(139,141,150,155,157,166)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          245..370
                     /region_name="LamB"
                     /note="Laminin B domain; smart00281"
                     /db_xref="CDD:214597"
     Site            342
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13753.2)"
     Site            362
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13753.2)"
     Region          461..509
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(462,464,474,481,484,493)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          516..565
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(517,519,531,538,541,550)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          572..>604
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(573,575,585,591,593,602)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          <614..>1104
                     /region_name="CCDC158"
                     /note="Coiled-coil domain-containing protein 158;
                     pfam15921"
                     /db_xref="CDD:435022"
     Site            942
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13753.2)"
     Site            1033
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13753.2)"
     CDS             1..1111
                     /gene="LAMC2"
                     /gene_synonym="B2T; BM600; CSF; EBR2; EBR2A; JEB3A; JEB3B;
                     LAMB2T; LAMNB2"
                     /coded_by="NM_018891.3:90..3425"
                     /note="isoform b precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS44285.1"
                     /db_xref="GeneID:3918"
                     /db_xref="HGNC:HGNC:6493"
                     /db_xref="MIM:150292"
ORIGIN      
        1 mpalwlgccl cfslllpaar atsrrevcdc ngksrqcifd relhrqtgng frclncndnt
       61 dgihcekckn gfyrhrerdr clpcncnskg slsarcdnsg rcsckpgvtg arcdrclpgf
      121 hmltdagctq dqrlldskcd cdpagiagpc dagrcvckpa vtgercdrcr sgyynldggn
      181 pegctqcfcy ghsascrssa eysvhkitst fhqdvdgwka vqrngspakl qwsqrhqdvf
      241 ssaqrldpvy fvapakflgn qqvsygqsls fdyrvdrggr hpsahdvile gaglritapl
      301 mplgktlpcg ltktytfrln ehpsnnwspq lsyfeyrrll rnltalrira tygeystgyi
      361 dnvtlisarp vsgapapwve qcicpvgykg qfcqdcasgy krdsarlgpf gtcipcncqg
      421 ggacdpdtgd cysgdenpdi ecadcpigfy ndphdprsck pcpchngfsc svmpeteevv
      481 cnncppgvtg arcelcadgy fgdpfgehgp vrpcqpcqcn nnvdpsasgn cdrltgrclk
      541 cihntagiyc dqckagyfgd plapnpadkc racncnpmgs epvgcrsdgt cvckpgfggp
      601 ncehgafscp acynqvkiqm dqfmqqlqrm ealiskaqgg dgvvpdtele grmqqaeqal
      661 qdilrdaqis egasrslglq lakvrsqens yqsrlddlkm tvervralgs qyqnrvrdth
      721 rlitqmqlsl aeseaslgnt nipasdhyvg pngfkslaqe atrlaeshve sasnmeqltr
      781 etedyskqal slvrkalheg vgsgsgspdg avvqglvekl ektkslaqql treatqaeie
      841 adrsyqhslr lldsvsrlqg vsdqsfqvee akrikqkads lsslvtrhmd efkrtqknlg
      901 nwkeeaqqll qngksgreks dqllsranla ksraqealsm gnatfyeves ilknlrefdl
      961 qvdnrkaeae eamkrlsyis qkvsdasdkt qqaeralgsa aadaqrakng agealeisse
     1021 ieqeigslnl eanvtadgal amekglaslk semrevegel erkelefdtn mdavqmvite
     1081 aqkvdtrakn agvtiqdtln tldgllhlmg m
//
LOCUS       NP_001394895            1567 aa            linear   PRI 25-MAR-2023
DEFINITION  breast cancer type 1 susceptibility protein isoform 84 [Homo
            sapiens].
ACCESSION   NP_001394895
VERSION     NP_001394895.1
DBSOURCE    REFSEQ: accession NM_001407966.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1567)
  AUTHORS   Orban TI and Olah E.
  TITLE     Emerging roles of BRCA1 alternative splicing
  JOURNAL   Mol Pathol 56 (4), 191-197 (2003)
   PUBMED   12890739
  REMARK    Review article
REFERENCE   2  (residues 1 to 1567)
  AUTHORS   Orban TI and Olah E.
  TITLE     Expression profiles of BRCA1 splice variants in asynchronous and in
            G1/S synchronized tumor cell lines
  JOURNAL   Biochem Biophys Res Commun 280 (1), 32-38 (2001)
   PUBMED   11162473
REFERENCE   3  (residues 1 to 1567)
  AUTHORS   Paterson JW.
  TITLE     BRCA1: a review of structure and putative functions
  JOURNAL   Dis Markers 13 (4), 261-274 (1998)
   PUBMED   9553742
  REMARK    Review article
REFERENCE   4  (residues 1 to 1567)
  AUTHORS   Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S,
            Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E.
  TITLE     Mutations and alternative splicing of the BRCA1 gene in UK
            breast/ovarian cancer families
  JOURNAL   Genes Chromosomes Cancer 18 (2), 102-110 (1997)
   PUBMED   9115959
REFERENCE   5  (residues 1 to 1567)
  AUTHORS   Wilson CA, Payton MN, Elliott GS, Buaas FW, Cajulis EE, Grosshans
            D, Ramos L, Reese DM, Slamon DJ and Calzone FJ.
  TITLE     Differential subcellular localization, expression and biological
            toxicity of BRCA1 and the splice variant BRCA1-delta11b
  JOURNAL   Oncogene 14 (1), 1-16 (1997)
   PUBMED   9010228
REFERENCE   6  (residues 1 to 1567)
  AUTHORS   Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, Yao J, Farid
            LM, Couch FJ, Wilson RB and Weber BL.
  TITLE     Localization of BRCA1 and a splice variant identifies the nuclear
            localization signal
  JOURNAL   Mol Cell Biol 17 (1), 444-452 (1997)
   PUBMED   8972225
REFERENCE   7  (residues 1 to 1567)
  AUTHORS   Lu M, Conzen SD, Cole CN and Arrick BA.
  TITLE     Characterization of functional messenger RNA splice variants of
            BRCA1 expressed in nonmalignant and tumor-derived breast cells
  JOURNAL   Cancer Res 56 (20), 4578-4581 (1996)
   PUBMED   8840964
REFERENCE   8  (residues 1 to 1567)
  AUTHORS   Holt JT, Thompson ME, Szabo C, Robinson-Benion C, Arteaga CL, King
            MC and Jensen RA.
  TITLE     Growth retardation and tumour inhibition by BRCA1
  JOURNAL   Nat Genet 12 (3), 298-302 (1996)
   PUBMED   8589721
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
REFERENCE   9  (residues 1 to 1567)
  AUTHORS   Xu CF, Brown MA, Chambers JA, Griffiths B, Nicolai H and Solomon E.
  TITLE     Distinct transcription start sites generate two forms of BRCA1 mRNA
  JOURNAL   Hum Mol Genet 4 (12), 2259-2264 (1995)
   PUBMED   8634696
REFERENCE   10 (residues 1 to 1567)
  AUTHORS   Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K,
            Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al.
  TITLE     A strong candidate for the breast and ovarian cancer susceptibility
            gene BRCA1
  JOURNAL   Science 266 (5182), 66-71 (1994)
   PUBMED   7545954
REFERENCE   11 (residues 1 to 1567)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
REFERENCE   12 (residues 1 to 1567)
  AUTHORS   Petrucelli,N., Daly,M.B. and Pal,T.
  TITLE     BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135721.4.
            
            Summary: This gene encodes a 190 kD nuclear phosphoprotein that
            plays a role in maintaining genomic stability, and it also acts as
            a tumor suppressor. The BRCA1 gene contains 22 exons spanning about
            110 kb of DNA. The encoded protein combines with other tumor
            suppressors, DNA damage sensors, and signal transducers to form a
            large multi-subunit protein complex known as the BRCA1-associated
            genome surveillance complex (BASC). This gene product associates
            with RNA polymerase II, and through the C-terminal domain, also
            interacts with histone deacetylase complexes. This protein thus
            plays a role in transcription, DNA repair of double-stranded
            breaks, and recombination. Mutations in this gene are responsible
            for approximately 40% of inherited breast cancers and more than 80%
            of inherited breast and ovarian cancers. Alternative splicing plays
            a role in modulating the subcellular localization and physiological
            function of this gene. Many alternatively spliced transcript
            variants, some of which are disease-associated mutations, have been
            described for this gene, but the full-length natures of only some
            of these variants has been described. A related pseudogene, which
            is also located on chromosome 17, has been identified. [provided by
            RefSeq, May 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1273121.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1567
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..1567
                     /product="breast cancer type 1 susceptibility protein
                     isoform 84"
                     /EC_number="2.3.2.27"
                     /note="BRCA1/BRCA2-containing complex, subunit 1; RING
                     finger protein 53; breast cancer type 1 susceptibility
                     protein; breast and ovarian cancer susceptibility protein
                     1; protein phosphatase 1, regulatory subunit 53; Fanconi
                     anemia, complementation group S; early onset breast cancer
                     1; breast cancer 1, early onset"
                     /calculated_mol_wt=174277
     Region          49..211
                     /region_name="BRCT_assoc"
                     /note="Serine-rich domain associated with BRCT; pfam12820"
                     /db_xref="CDD:432806"
     Region          1354..1450
                     /region_name="BRCT_BRCA1_rpt1"
                     /note="first BRCT domain of breast cancer type 1
                     susceptibility protein (BRCA1) and similar proteins;
                     cd17735"
                     /db_xref="CDD:349367"
     Site            order(1358..1360,1362,1402..1406,1408,1444)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349367"
     Region          1462..1559
                     /region_name="BRCT_BRCA1_rpt2"
                     /note="second (C-terminal) BRCT domain of breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd17721"
                     /db_xref="CDD:349353"
     Site            order(1478..1479,1539..1540,1544,1556..1557)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349353"
     CDS             1..1567
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /coded_by="NM_001407966.1:313..5016"
                     /note="isoform 84 is encoded by transcript variant 232"
                     /db_xref="GeneID:672"
                     /db_xref="HGNC:HGNC:1100"
                     /db_xref="MIM:113705"
ORIGIN      
        1 mnvekaefcn kskqpglars qhnrwagske tcndrrtpst ekkvdlnadp lcerkewnkq
       61 klpcsenprd tedvpwitln ssiqkvnewf srsdellgsd dshdgesesn akvadvldvl
      121 nevdeysgss ekidllasdp healickser vhsksvesni edkifgktyr kkaslpnlsh
      181 vtenliigaf vtepqiiqer pltnklkrkr rptsglhped fikkadlavq ktpeminqgt
      241 nqteqngqvm nitnsghenk tkgdsiqnek npnpieslek esafktkaep isssisnmel
      301 elnihnskap kknrlrrkss trhihalelv vsrnlsppnc telqidscss seeikkkkyn
      361 qmpvrhsrnl qlmegkepat gakksnkpne qtskrhdsdt fpelkltnap gsftkcsnts
      421 elkefvnpsl preekeekle tvkvsnnaed pkdlmlsger vlqtersves ssislvpgtd
      481 ygtqesisll evstlgkakt epnkcvsqca afenpkglih gcskdnrndt egfkyplghe
      541 vnhsretsie meeseldaqy lqntfkvskr qsfapfsnpg naeeecatfs ahsgslkkqs
      601 pkvtfeceqk eenqgknesn ikpvqtvnit agfpvvgqkd kpvdnakcsi kggsrfclss
      661 qfrgnetgli tpnkhgllqn pyripplfpi ksfvktkckk nlleenfeeh smsperemgn
      721 enipstvsti srnnirenvf keasssnine vgsstnevgs sineigssde niqaelgrnr
      781 gpklnamlrl gvlqpevykq slpgsnckhp eikkqeyeev vqtvntdfsp ylisdnleqp
      841 mgsshasqvc setpddlldd geikedtsfa endikessav fsksvqkgel srspspftht
      901 hlaqgyrrga kklesseenl ssedeelpcf qhllfgkvnn ipsqstrhst vateclsknt
      961 eenllslkns lndcsnqvil akasqehhls eetkcsaslf ssqcseledl tantntqdpf
     1021 ligsskqmrh qsesqgvgls dkelvsddee rgtgleennq eeqsmdsnlg eaasgceset
     1081 svsedcsgls sqsdilttqq rdtmqhnlik lqqemaelea vleqhgsqps nsypsiisds
     1141 saledlrnpe qstsekavlt sqksseypis qnpeglsadk fevsadssts knkepgvers
     1201 spskcpsldd rwymhscsgs lqnrnypsqe elikvvdvee qqleesgphd ltetsylprq
     1261 dlegtpyles gislfsddpe sdpsedrape sarvgnipss tsalkvpqlk vaesaqspaa
     1321 ahttdtagyn ameesvsrek peltasterv nkrmsmvvsg ltpeefmlvy kfarkhhitl
     1381 tnliteetth vvmktdaefv certlkyflg iaggkwvvsy fwvtqsiker kmlnehdfev
     1441 rgdvvngrnh qgpkraresq drkifrglei ccygpftnmp tdqlewmvql cgasvvkels
     1501 sftlgtgvhp ivvvqpdawt edngfhaigq mceapvvtre wvldsvalyq cqeldtylip
     1561 qiphshy
//
LOCUS       NP_000029               2843 aa            linear   PRI 11-APR-2023
DEFINITION  adenomatous polyposis coli protein isoform b [Homo sapiens].
ACCESSION   NP_000029
VERSION     NP_000029.2
DBSOURCE    REFSEQ: accession NM_000038.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2843)
  AUTHORS   Guo L, Dou Y, Xiang Y, Luo L, Xu X, Wang Q, Zhang Y and Liang T.
  TITLE     Systematic analysis of cancer-specific synthetic lethal
            interactions provides insight into personalized anticancer therapy
  JOURNAL   FEBS J 290 (6), 1531-1548 (2023)
   PUBMED   36181326
REFERENCE   2  (residues 1 to 2843)
  AUTHORS   Panyarat C, Nakornchai S, Chintakanon K, Leelaadisorn N, Intachai
            W, Olsen B, Tongsima S, Adisornkanj P, Ngamphiw C, Cox TC and
            Kantaputra P.
  TITLE     Rare Genetic Variants in Human APC Are Implicated in Mesiodens and
            Isolated Supernumerary Teeth
  JOURNAL   Int J Mol Sci 24 (5), 4255 (2023)
   PUBMED   36901686
  REMARK    GeneRIF: Rare Genetic Variants in Human APC Are Implicated in
            Mesiodens and Isolated Supernumerary Teeth.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 2843)
  AUTHORS   Peng X, Zhang T, Jia X, Wang T, Lin H, Li G, Li R and Zhang A.
  TITLE     Impact of a haplotype (composed of the APC, KRAS, and TP53 genes)
            on colorectal adenocarcinoma differentiation and patient prognosis
  JOURNAL   Cancer Genet 268-269, 115-123 (2022)
   PUBMED   36288643
  REMARK    GeneRIF: Impact of a haplotype (composed of the APC, KRAS, and TP53
            genes) on colorectal adenocarcinoma differentiation and patient
            prognosis.
REFERENCE   4  (residues 1 to 2843)
  AUTHORS   Lambertz S and Ballhausen WG.
  TITLE     Identification of an alternative 5' untranslated region of the
            adenomatous polyposis coli gene
  JOURNAL   Hum Genet 90 (6), 650-652 (1993)
   PUBMED   8383094
REFERENCE   5  (residues 1 to 2843)
  AUTHORS   Yen,T., Stanich,P.P., Axell,L. and Patel,S.G.
  TITLE     APC-Associated Polyposis Conditions
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301519
REFERENCE   6  (residues 1 to 2843)
  AUTHORS   Nakatsuru S, Yanagisawa A, Ichii S, Tahara E, Kato Y, Nakamura Y
            and Horii A.
  TITLE     Somatic mutation of the APC gene in gastric cancer: frequent
            mutations in very well differentiated adenocarcinoma and
            signet-ring cell carcinoma
  JOURNAL   Hum Mol Genet 1 (8), 559-563 (1992)
   PUBMED   1338691
REFERENCE   7  (residues 1 to 2843)
  AUTHORS   Miki Y, Nishisho I, Horii A, Miyoshi Y, Utsunomiya J, Kinzler KW,
            Vogelstein B and Nakamura Y.
  TITLE     Disruption of the APC gene by a retrotransposal insertion of L1
            sequence in a colon cancer
  JOURNAL   Cancer Res 52 (3), 643-645 (1992)
   PUBMED   1310068
REFERENCE   8  (residues 1 to 2843)
  AUTHORS   Nagase H, Miyoshi Y, Horii A, Aoki T, Petersen GM, Vogelstein B,
            Maher E, Ogawa M, Maruyama M, Utsunomiya J et al.
  TITLE     Screening for germ-line mutations in familial adenomatous polyposis
            patients: 61 new patients and a summary of 150 unrelated patients
  JOURNAL   Hum Mutat 1 (6), 467-473 (1992)
   PUBMED   1338764
REFERENCE   9  (residues 1 to 2843)
  AUTHORS   Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama
            K, Utsunomiya J, Baba S and Hedge P.
  TITLE     Mutations of chromosome 5q21 genes in FAP and colorectal cancer
            patients
  JOURNAL   Science 253 (5020), 665-669 (1991)
   PUBMED   1651563
REFERENCE   10 (residues 1 to 2843)
  AUTHORS   Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB,
            Smith KJ, Preisinger AC, Hedge P, McKechnie D et al.
  TITLE     Identification of FAP locus genes from chromosome 5q21
  JOURNAL   Science 253 (5020), 661-665 (1991)
   PUBMED   1651562
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA795663.1, M73548.1,
            AB210001.1 and CA313732.1.
            On Oct 4, 2004 this sequence version replaced NP_000029.1.
            
            Summary: This gene encodes a tumor suppressor protein that acts as
            an antagonist of the Wnt signaling pathway. It is also involved in
            other processes including cell migration and adhesion,
            transcriptional activation, and apoptosis. Defects in this gene
            cause familial adenomatous polyposis (FAP), an autosomal dominant
            pre-malignant disease that usually progresses to malignancy.
            Mutations in the APC gene have been found to occur in most
            colorectal cancers, where disease-associated mutations tend to be
            clustered in a small region designated the mutation cluster region
            (MCR) and result in a truncated protein product. [provided by
            RefSeq, Jun 2022].
            
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at an
            alternate start codon, compared to variant 1. This variant also
            contains an alternate in-frame exon compared to variant 1. The
            encoded isoform (b) has a distinct N-terminus and is longer than
            isoform a. Variants 2, 3, and 4 all encode the same isoform (b).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.217786.1, M73548.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000257430.9/ ENSP00000257430.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2843
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.2"
     Protein         1..2843
                     /product="adenomatous polyposis coli protein isoform b"
                     /note="adenomatous polyposis coli protein; WNT signaling
                     pathway regulator; adenomatosis polyposis coli tumor
                     suppressor; deleted in polyposis 2.5; protein phosphatase
                     1, regulatory subunit 46; adenomatous polyposis coli
                     (APC); epididymis secretory sperm binding protein; APC,
                     WNT signaling pathway regulator"
                     /calculated_mol_wt=311516
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Region          4..55
                     /region_name="APC_N_CC"
                     /note="Coiled-coil N-terminus of APC, dimerization domain;
                     pfam16689"
                     /db_xref="CDD:435517"
     Region          <8..272
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Site            107
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            111
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Region          127..207
                     /region_name="Suppressor_APC"
                     /note="Adenomatous polyposis coli tumor suppressor
                     protein; pfam11414"
                     /db_xref="CDD:431875"
     Region          239..305
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          340..392
                     /region_name="ARM"
                     /note="Armadillo/beta-catenin-like repeats; smart00185"
                     /db_xref="CDD:214547"
     Region          393..466
                     /region_name="APC_rep"
                     /note="Adenomatous polyposis coli (APC) repeat; pfam18797"
                     /db_xref="CDD:436744"
     Region          453..495
                     /region_name="ARM 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          465..508
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Site            order(499,503,507,542,546,550,586,590,594)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          505..547
                     /region_name="ARM 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          512..553
                     /region_name="ARM"
                     /note="Armadillo/beta-catenin-like repeats; smart00185"
                     /db_xref="CDD:214547"
     Region          516..553
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          548..591
                     /region_name="ARM 3"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          560..595
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          592..638
                     /region_name="ARM 4"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          603..644
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          639..683
                     /region_name="ARM 5"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          649..689
                     /region_name="ARM"
                     /note="Armadillo/beta-catenin-like repeats; smart00185"
                     /db_xref="CDD:214547"
     Region          653..687
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          684..725
                     /region_name="ARM 6"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          691..731
                     /region_name="Arm"
                     /note="Armadillo/beta-catenin-like repeat; pfam00514"
                     /db_xref="CDD:425727"
     Region          695..731
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          726..767
                     /region_name="ARM 7"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          732..1019
                     /region_name="Arm_APC_u3"
                     /note="Armadillo-associated region on APC; pfam16629"
                     /db_xref="CDD:435476"
     Site            744
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            748
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            780
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          828..878
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Site            908
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Region          923..943
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          958..987
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          960..1337
                     /region_name="Responsible for down-regulation through a
                     process mediated by direct ubiquitination"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Site            987
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Region          1036..1135
                     /region_name="APC_u5"
                     /note="Unstructured region on APC between 1st and 2nd
                     catenin-bdg motifs; pfam16630"
                     /db_xref="CDD:406923"
     Site            1038
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            1042
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Region          1099..1169
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          1190..1244
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          1257..>1274
                     /region_name="APC_r"
                     /note="APC repeat; pfam05923"
                     /db_xref="CDD:399133"
     Region          1283..1368
                     /region_name="APC_u9"
                     /note="Unstructured region on APC between 1st two
                     creatine-rich regions; pfam16633"
                     /db_xref="CDD:435478"
     Region          <1291..1701
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     Region          1311..1376
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Site            1360
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            1371
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            1385
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            1392
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            1395
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Region          1403..1475
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Site            1438
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Region          1526..1569
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Site            1567
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Region          1583..1611
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          1637..1660
                     /region_name="APC_r"
                     /note="APC repeat; pfam05923"
                     /db_xref="CDD:399133"
     Region          1662..1715
                     /region_name="APC_u13"
                     /note="Unstructured region on APC between APC_crr and
                     SAMP; pfam16634"
                     /db_xref="CDD:406927"
     Region          1664..1717
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          1716..1737
                     /region_name="SAMP"
                     /note="SAMP Motif; pfam05924"
                     /db_xref="CDD:428675"
     Region          1729..1836
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          1746..1839
                     /region_name="APC_u14"
                     /note="Unstructured region on APC between SAMP and
                     APC_crr; pfam16635"
                     /db_xref="CDD:435479"
     Site            1774
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            1861
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Site            1863
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            1864
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Region          1866..1893
                     /region_name="Highly charged"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          1873..1947
                     /region_name="APC_u15"
                     /note="Unstructured region on APC between APC_crr regions
                     5 and 6; pfam16636"
                     /db_xref="CDD:435480"
     Region          1881..1950
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          1965..2011
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Site            1971
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            1973
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Region          2033..2052
                     /region_name="SAMP"
                     /note="SAMP Motif; pfam05924"
                     /db_xref="CDD:428675"
     Region          2043..2072
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Site            2088
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            2093
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            2125
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            2129
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            2130
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            2132
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Region          2147..2635
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Site            2151
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Region          2223..2568
                     /region_name="APC_basic"
                     /note="APC basic domain; pfam05956"
                     /db_xref="CDD:428690"
     Site            2260
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            2270
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            2283
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            2473
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            2535
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            2569
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Region          2667..2714
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          2670..2843
                     /region_name="EB1_binding"
                     /note="EB-1 Binding Domain; pfam05937"
                     /db_xref="CDD:399141"
     Site            2671
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            2674
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            2679
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            2710
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Site            2724
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Region          2729..2843
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Site            2789
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2)"
     Region          2803..2806
                     /region_name="Microtubule tip localization signal"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     Region          2841..2843
                     /region_name="PDZ-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2)"
     CDS             1..2843
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /coded_by="NM_000038.6:60..8591"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS4107.1"
                     /db_xref="GeneID:324"
                     /db_xref="HGNC:HGNC:583"
                     /db_xref="MIM:611731"
ORIGIN      
        1 maaasydqll kqvealkmen snlrqeledn snhltklete asnmkevlkq lqgsiedeam
       61 assgqidlle rlkelnldss nfpgvklrsk mslrsygsre gsvssrsgec spvpmgsfpr
      121 rgfvngsres tgyleeleke rsllladldk eekekdwyya qlqnltkrid slpltenfsl
      181 qtdmtrrqle yearqirvam eeqlgtcqdm ekraqrriar iqqiekdilr irqllqsqat
      241 eaerssqnkh etgshdaerq negqgvgein matsgngqgs ttrmdhetas vlssssthsa
      301 prrltshlgt kvemvyslls mlgthdkddm srtllamsss qdscismrqs gclplliqll
      361 hgndkdsvll gnsrgskear arasaalhni ihsqpddkrg rreirvlhll eqiraycetc
      421 wewqeahepg mdqdknpmpa pvehqicpav cvlmklsfde ehrhamnelg glqaiaellq
      481 vdcemygltn dhysitlrry agmaltnltf gdvankatlc smkgcmralv aqlksesedl
      541 qqviasvlrn lswradvnsk ktlrevgsvk almecalevk kestlksvls alwnlsahct
      601 enkadicavd galaflvgtl tyrsqtntla iiesgggilr nvssliatne dhrqilrenn
      661 clqtllqhlk shsltivsna cgtlwnlsar npkdqealwd mgavsmlknl ihskhkmiam
      721 gsaaalrnlm anrpakykda nimspgsslp slhvrkqkal eaeldaqhls etfdnidnls
      781 pkashrskqr hkqslygdyv fdtnrhddnr sdnfntgnmt vlspylnttv lpsssssrgs
      841 ldssrsekdr slerergigl gnyhpatenp gtsskrglqi sttaaqiakv meevsaihts
      901 qedrssgstt elhcvtdern alrrssaaht hsntynftks ensnrtcsmp yakleykrss
      961 ndslnsvsss dgygkrgqmk psiesysedd eskfcsygqy padlahkihs anhmddndge
     1021 ldtpinyslk ysdeqlnsgr qspsqnerwa rpkhiiedei kqseqrqsrn qsttypvyte
     1081 stddkhlkfq phfgqqecvs pyrsrgangs etnrvgsnhg inqnvsqslc qeddyeddkp
     1141 tnyserysee eqheeeerpt nysikyneek rhvdqpidys lkyatdipss qkqsfsfsks
     1201 ssgqsskteh mssssentst pssnakrqnq lhpssaqsrs gqpqkaatck vssinqetiq
     1261 tycvedtpic fsrcsslssl ssaedeigcn qttqeadsan tlqiaeikek igtrsaedpv
     1321 sevpavsqhp rtkssrlqgs slssesarhk avefssgaks psksgaqtpk sppehyvqet
     1381 plmfsrctsv ssldsfesrs iassvqsepc sgmvsgiisp sdlpdspgqt mppsrsktpp
     1441 pppqtaqtkr evpknkapta ekresgpkqa avnaavqrvq vlpdadtllh fatestpdgf
     1501 scssslsals ldepfiqkdv elrimppvqe ndngnetese qpkesnenqe keaektidse
     1561 kdllddsddd dieileecii samptkssrk akkpaqtask lpppvarkps qlpvykllps
     1621 qnrlqpqkhv sftpgddmpr vycvegtpin fstatslsdl tiesppnela agegvrggaq
     1681 sgefekrdti ptegrstdea qggktssvti pelddnkaee gdilaecins ampkgkshkp
     1741 frvkkimdqv qqasasssap nknqldgkkk kptspvkpip qnteyrtrvr knadsknnln
     1801 aervfsdnkd skkqnlknns kvfndklpnn edrvrgsfaf dsphhytpie gtpycfsrnd
     1861 slssldfddd dvdlsrekae lrkakenkes eakvtshtel tsnqqsankt qaiakqpinr
     1921 gqpkpilqkq stfpqsskdi pdrgaatdek lqnfaientp vcfshnssls slsdidqenn
     1981 nkenepiket eppdsqgeps kpqasgyapk sfhvedtpvc fsrnsslssl sidseddllq
     2041 ecissampkk kkpsrlkgdn ekhsprnmgg ilgedltldl kdiqrpdseh glspdsenfd
     2101 wkaiqegans ivsslhqaaa aaclsrqass dsdsilslks gislgspfhl tpdqeekpft
     2161 snkgprilkp gekstletkk ieseskgikg gkkvykslit gkvrsnseis gqmkqplqan
     2221 mpsisrgrtm ihipgvrnss sstspvskkg pplktpasks psegqtatts prgakpsvks
     2281 elspvarqts qiggsskaps rsgsrdstps rpaqqplsrp iqspgrnsis pgrngisppn
     2341 klsqlprtss pstastkssg sgkmsytspg rqmsqqnltk qtglsknass iprsesaskg
     2401 lnqmnngnga nkkvelsrms stkssgsesd rserpvlvrq stfikeapsp tlrrkleesa
     2461 sfeslspssr pasptrsqaq tpvlspslpd mslsthssvq aggwrklppn lsptieyndg
     2521 rpakrhdiar shsespsrlp inrsgtwkre hskhssslpr vstwrrtgss ssilsasses
     2581 sekaksedek hvnsisgtkq skenqvsakg twrkikenef sptnstsqtv ssgatngaes
     2641 ktliyqmapa vsktedvwvr iedcpinnpr sgrsptgntp pvidsvseka npnikdskdn
     2701 qakqnvgngs vpmrtvglen rlnsfiqvda pdqkgteikp gqnnpvpvse tnessivert
     2761 pfsssssskh sspsgtvaar vtpfnynpsp rkssadstsa rpsqiptpvn nntkkrdskt
     2821 dstessgtqs pkrhsgsylv tsv
//
LOCUS       NP_001123503             426 aa            linear   PRI 12-DEC-2020
DEFINITION  zinc finger protein 562 isoform a [Homo sapiens].
ACCESSION   NP_001123503
VERSION     NP_001123503.1
DBSOURCE    REFSEQ: accession NM_001130031.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 426)
  AUTHORS   Jia L, Young MF, Powell J, Yang L, Ho NC, Hotchkiss R, Robey PG and
            Francomano CA.
  TITLE     Gene expression profile of human bone marrow stromal cells:
            high-throughput expressed sequence tag sequencing analysis
  JOURNAL   Genomics 79 (1), 7-17 (2002)
   PUBMED   11827452
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP221824.1, DC405554.1, AC008759.9 and AI753280.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer protein (isoform a). Variants 1
            and 2 encode the same protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BP351030.1, SRR1803616.10275.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267752 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000453372.7/ ENSP00000410734.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..426
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     Protein         1..426
                     /product="zinc finger protein 562 isoform a"
                     /calculated_mol_wt=48432
     Region          40..81
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          <117..308
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          181..198
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Region          206..226
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <258..420
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          263..282
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          290..310
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          318..338
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(323,325,327,329..330,333..334,337,351,353,357..358,
                     361..362,365,379,381,383,385..386,389..390,393)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          346..366
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          374..394
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          402..422
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..426
                     /gene="ZNF562"
                     /coded_by="NM_001130031.2:217..1497"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS45956.1"
                     /db_xref="GeneID:54811"
                     /db_xref="HGNC:HGNC:25950"
ORIGIN      
        1 msafdmshgf fprepicpfe ektkigtmve dhrsnsyqds vtfddvavef tpeewalldt
       61 tqkylyrdvm lenymnlasv dfffcltsew eiqprtkrss lqqgflknqi ftgiqmqtrs
      121 ysgwklcenc gevfseqfcl kthmraqngg ntfegncygk dsisvhkeas igqelskfnp
      181 cgkvftltpg lavhleilng rqpykckecg kgfkyfasld nhmgihigek lcefqecera
      241 ittsshlkqc vavhtgkkse ktkncgksft nfsqlsahak thkgeksfec kecgrsfrns
      301 ssfnvhiqih tgikphkcte cgkaftrsth ltqhvrthtg ikpyeckecg qaftqytgla
      361 ihirnhtgek pyqckecgka fnrsstltqh rrihtgekpy ecvecgktfi tsshrskhlk
      421 thsger
//
LOCUS       NP_001336911             412 aa            linear   PRI 14-DEC-2022
DEFINITION  RNA binding protein fox-1 homolog 2 isoform 8 [Homo sapiens].
ACCESSION   NP_001336911 XP_016884178
VERSION     NP_001336911.1
DBSOURCE    REFSEQ: accession NM_001349982.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 412)
  AUTHORS   Zheng Y, Niu X, Xue W, Li L, Geng Q, Fan Z and Zhao J.
  TITLE     The Role of Alternative Splicing Factors hnRNP G and Fox-2 in the
            Progression and Prognosis of Esophageal Cancer
  JOURNAL   Dis Markers 2022, 3043737 (2022)
   PUBMED   36466711
  REMARK    GeneRIF: The Role of Alternative Splicing Factors hnRNP G and Fox-2
            in the Progression and Prognosis of Esophageal Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 412)
  AUTHORS   Cooper AM, Nutter CA, Kuyumcu-Martinez MN and Wright CW.
  TITLE     Alternative Splicing of the Aryl Hydrocarbon Receptor Nuclear
            Translocator (ARNT) Is Regulated by RBFOX2 in Lymphoid Malignancies
  JOURNAL   Mol Cell Biol 42 (5), e0050321 (2022)
   PUBMED   35404107
  REMARK    GeneRIF: Alternative Splicing of the Aryl Hydrocarbon Receptor
            Nuclear Translocator (ARNT) Is Regulated by RBFOX2 in Lymphoid
            Malignancies.
REFERENCE   3  (residues 1 to 412)
  AUTHORS   Vecellio Reane D, Cerqua C, Sacconi S, Salviati L, Trevisson E and
            Raffaello A.
  TITLE     The Splicing of the Mitochondrial Calcium Uniporter Genuine
            Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic
            Differentiation
  JOURNAL   Int J Mol Sci 23 (5), 2517 (2022)
   PUBMED   35269658
  REMARK    GeneRIF: The Splicing of the Mitochondrial Calcium Uniporter
            Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during
            Myogenic Differentiation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 412)
  AUTHORS   Mochizuki Y, Funayama R, Shirota M, Kikukawa Y, Ohira M, Karasawa
            H, Kobayashi M, Ohnuma S, Unno M and Nakayama K.
  TITLE     Alternative microexon splicing by RBFOX2 and PTBP1 is associated
            with metastasis in colorectal cancer
  JOURNAL   Int J Cancer 149 (10), 1787-1800 (2021)
   PUBMED   34346508
  REMARK    GeneRIF: Alternative microexon splicing by RBFOX2 and PTBP1 is
            associated with metastasis in colorectal cancer.
REFERENCE   5  (residues 1 to 412)
  AUTHORS   Kim JH, Jeong K, Li J, Murphy JM, Vukadin L, Stone JK, Richard A,
            Tran J, Gillespie GY, Flemington EK, Sobol RW, Lim SS and Ahn EE.
  TITLE     SON drives oncogenic RNA splicing in glioblastoma by regulating
            PTBP1/PTBP2 switching and RBFOX2 activity
  JOURNAL   Nat Commun 12 (1), 5551 (2021)
   PUBMED   34548489
  REMARK    GeneRIF: SON drives oncogenic RNA splicing in glioblastoma by
            regulating PTBP1/PTBP2 switching and RBFOX2 activity.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 412)
  AUTHORS   Underwood JG, Boutz PL, Dougherty JD, Stoilov P and Black DL.
  TITLE     Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal
            splicing regulators in mammals
  JOURNAL   Mol Cell Biol 25 (22), 10005-10016 (2005)
   PUBMED   16260614
  REMARK    GeneRIF: Fox-1 and Fox-2 isoforms specifically activate splicing of
            neuronally regulated exons, which requires UGCAUG enhancer elements
REFERENCE   7  (residues 1 to 412)
  AUTHORS   Collins JE, Goward ME, Cole CG, Smink LJ, Huckle EJ, Knowles S, Bye
            JM, Beare DM and Dunham I.
  TITLE     Reevaluating human gene annotation: a second-generation analysis of
            chromosome 22
  JOURNAL   Genome Res 13 (1), 27-36 (2003)
   PUBMED   12529303
REFERENCE   8  (residues 1 to 412)
  AUTHORS   Norris JD, Fan D, Sherk A and McDonnell DP.
  TITLE     A negative coregulator for the human ER
  JOURNAL   Mol Endocrinol 16 (3), 459-468 (2002)
   PUBMED   11875103
REFERENCE   9  (residues 1 to 412)
  AUTHORS   Lieberman AP, Friedlich DL, Harmison G, Howell BW, Jordan CL,
            Breedlove SM and Fischbeck KH.
  TITLE     Androgens regulate the mammalian homologues of invertebrate sex
            determination genes tra-2 and fox-1
  JOURNAL   Biochem Biophys Res Commun 282 (2), 499-506 (2001)
   PUBMED   11401487
REFERENCE   10 (residues 1 to 412)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY155887.1, AL035800.1,
            DA776762.1, CR456559.1, HY351263.1, AL049748.2 and AA610054.1.
            On Mar 31, 2017 this sequence version replaced XP_016884178.1.
            
            Summary: This gene is one of several human genes similar to the C.
            elegans gene Fox-1. This gene encodes an RNA binding protein that
            is thought to be a key regulator of alternative exon splicing in
            the nervous system and other cell types. The protein binds to a
            conserved UGCAUG element found downstream of many alternatively
            spliced exons and promotes inclusion of the alternative exon in
            mature transcripts. The protein also interacts with the estrogen
            receptor 1 transcription factor and regulates estrogen receptor 1
            transcriptional activity. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.270785.1,
                                           SRR1660805.201028.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..412
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     Protein         1..412
                     /product="RNA binding protein fox-1 homolog 2 isoform 8"
                     /note="repressor of tamoxifen transcriptional activity;
                     fox-1 homologue; fox-1 homolog B; RNA-binding motif
                     protein 9; hexaribonucleotide-binding protein 2; RNA
                     binding protein, fox-1 homolog 2"
                     /calculated_mol_wt=44368
     Region          <117..>269
                     /region_name="half-pint"
                     /note="poly-U binding splicing factor, half-pint family;
                     TIGR01645"
                     /db_xref="CDD:130706"
     Region          133..208
                     /region_name="RRM_FOX1_like"
                     /note="RNA recognition motif (RRM) found in vertebrate RNA
                     binding protein fox-1 homologs and similar proteins;
                     cd12407"
                     /db_xref="CDD:409841"
     Site            order(134,136,138..143,163..167,169..174,176,200,205..208)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:409841"
     Region          273..>330
                     /region_name="Fox-1_C"
                     /note="Calcitonin gene-related peptide regulator C
                     terminal; pfam12414"
                     /db_xref="CDD:432537"
     CDS             1..412
                     /gene="RBFOX2"
                     /gene_synonym="dJ106I20.3; Fox-2; FOX2; fxh; HNRBP2;
                     HRNBP2; RBM9; RTA"
                     /coded_by="NM_001349982.2:27..1265"
                     /note="isoform 8 is encoded by transcript variant 8"
                     /db_xref="GeneID:23543"
                     /db_xref="HGNC:HGNC:9906"
                     /db_xref="MIM:612149"
ORIGIN      
        1 mssdsmdqpr npcenepltp gyhgfpards qgnqeptttp damvqpftti pfppppqngi
       61 pteygvphtq dyagqtgehn ltlygstqah geqssnspst qngslttegg aqtdgqqsqt
      121 qssensesks tpkrlhvsni pfrfrdpdlr qmfgqfgkil dveiifnerg skgfgfvtfe
      181 nsadadrare klhgtvvegr kievnnatar vmtnkkmvtp yangwklspv vgavygpely
      241 aassfqadvs lgndaavpls grggintyip liipgfpypt aattaaafrg ahlrgrgrtv
      301 ygavravppt aipaypgvvy qdgfygadly iesancfrsn rvdmqptdmh slllqpqppl
      361 lqplqpltvt vmagctqptp tmplplplam elalwrvyte vatadlppte vt
//
LOCUS       NP_001336147             421 aa            linear   PRI 17-DEC-2022
DEFINITION  E3 ubiquitin-protein ligase ARIH2 isoform f precursor [Homo
            sapiens].
ACCESSION   NP_001336147 XP_011531577
VERSION     NP_001336147.1
DBSOURCE    REFSEQ: accession NM_001349218.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 421)
  AUTHORS   Geng S, Peng W, Wang X, Hu X, Liang H, Hou J, Wang F, Zhao G, Lu M
            and Cui H.
  TITLE     ARIH2 regulates the proliferation, DNA damage and chemosensitivity
            of gastric cancer cells by reducing the stability of p21 via
            ubiquitination
  JOURNAL   Cell Death Dis 13 (6), 564 (2022)
   PUBMED   35732617
  REMARK    GeneRIF: ARIH2 regulates the proliferation, DNA damage and
            chemosensitivity of gastric cancer cells by reducing the stability
            of p21 via ubiquitination.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 421)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 421)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 421)
  AUTHORS   Huttenhain R, Xu J, Burton LA, Gordon DE, Hultquist JF, Johnson JR,
            Satkamp L, Hiatt J, Rhee DY, Baek K, Crosby DC, Frankel AD, Marson
            A, Harper JW, Alpi AF, Schulman BA, Gross JD and Krogan NJ.
  TITLE     ARIH2 Is a Vif-Dependent Regulator of CUL5-Mediated APOBEC3G
            Degradation in HIV Infection
  JOURNAL   Cell Host Microbe 26 (1), 86-99 (2019)
   PUBMED   31253590
  REMARK    GeneRIF: Here, using a quantitative proteomics approach, the
            authors identify the E3 ligase ARIH2 as a regulator of the HIV-1
            Vif protein-dependent CRL5-mediated APOBEC3 degradation. The
            CUL5(Vif/CBFss) complex recruits ARIH2 where it acts to transfer
            ubiquitin directly to the APOBEC3 targets.
REFERENCE   5  (residues 1 to 421)
  AUTHORS   Kelsall IR, Kristariyanto YA, Knebel A, Wood NT, Kulathu Y and Alpi
            AF.
  TITLE     Coupled monoubiquitylation of the co-E3 ligase DCNL1 by Ariadne-RBR
            E3 ubiquitin ligases promotes cullin-RING ligase complex remodeling
  JOURNAL   J Biol Chem 294 (8), 2651-2664 (2019)
   PUBMED   30587576
  REMARK    GeneRIF: ubiquitin-associated (UBA) domain-containing DCNL1 is
            monoubiquitylated when bound to CRLs and that this
            monoubiquitylation depends on the CRL-associated Ariadne RBR
            ligases TRIAD1 (ARIH2) and HHARI (ARIH1) and strictly requires the
            DCNL1's UBA domain.
REFERENCE   6  (residues 1 to 421)
  AUTHORS   Marteijn JA, van der Meer LT, van Emst L, van Reijmersdal S,
            Wissink W, de Witte T, Jansen JH and Van der Reijden BA.
  TITLE     Gfi1 ubiquitination and proteasomal degradation is inhibited by the
            ubiquitin ligase Triad1
  JOURNAL   Blood 110 (9), 3128-3135 (2007)
   PUBMED   17646546
  REMARK    GeneRIF: The fine-tuning of Gfi1 protein levels regulated by Triad1
            defines an unexpected role for this protein in hematopoiesis.
REFERENCE   7  (residues 1 to 421)
  AUTHORS   Marteijn JA, van Emst L, Erpelinck-Verschueren CA, Nikoloski G,
            Menke A, de Witte T, Lowenberg B, Jansen JH and van der Reijden BA.
  TITLE     The E3 ubiquitin-protein ligase Triad1 inhibits clonogenic growth
            of primary myeloid progenitor cells
  JOURNAL   Blood 106 (13), 4114-4123 (2005)
   PUBMED   16118314
  REMARK    GeneRIF: proteasomal degradation of proteins that are ubiquitinated
            by Triad1 affects the clonogenic growth of primary myeloid
            progenitor cells
REFERENCE   8  (residues 1 to 421)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   9  (residues 1 to 421)
  AUTHORS   Aguilera M, Oliveros M, Martinez-Padron M, Barbas JA and Ferrus A.
  TITLE     Ariadne-1: a vital Drosophila gene is required in development and
            defines a new conserved family of ring-finger proteins
  JOURNAL   Genetics 155 (3), 1231-1244 (2000)
   PUBMED   10880484
REFERENCE   10 (residues 1 to 421)
  AUTHORS   van der Reijden BA, Erpelinck-Verschueren CA, Lowenberg B and
            Jansen JH.
  TITLE     TRIADs: a new class of proteins with a novel cysteine-rich
            signature
  JOURNAL   Protein Sci 8 (7), 1557-1561 (1999)
   PUBMED   10422847
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC134028.10 and AC137630.9.
            On Mar 9, 2017 this sequence version replaced XP_011531577.1.
            
            Summary: The protein encoded by this gene is an E3
            ubiquitin-protein ligase that polyubiquitinates some proteins,
            tagging them for degradation. The encoded protein upregulates p53
            in some cancer cells and may inhibit myelopoiesis. Several
            transcript variants encoding different isoforms have been found for
            this gene, although the full-length nature of some of them have not
            been determined yet. [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (13), as well as variants 12, 14,
            15, and 16, encodes isoform f.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.201498.1,
                                           SRR3476690.1157.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..421
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..421
                     /product="E3 ubiquitin-protein ligase ARIH2 isoform f
                     precursor"
                     /EC_number="2.3.2.31"
                     /note="ariadne homolog 2; all-trans retinoic acid
                     inducible RING finger; protein ariadne-2 homolog; E3
                     ubiquitin-protein ligase ARIH2; RING-type E3 ubiquitin
                     transferase ARIH2"
                     /calculated_mol_wt=47712
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1957
     Region          65..118
                     /region_name="RING-HC_RBR_TRIAD1"
                     /note="RING finger, HC subclass, found in two RING fingers
                     and DRIL [double RING finger linked] 1 (TRIAD1); cd16773"
                     /db_xref="CDD:438429"
     Region          145..216
                     /region_name="BRcat_RBR_TRIAD1"
                     /note="BRcat domain found in two RING fingers and DRIL
                     [double RING finger linked] 1 (TRIAD1); cd20344"
                     /db_xref="CDD:439005"
     Region          220..275
                     /region_name="Rcat_RBR_TRIAD1"
                     /note="Rcat domain found in two RING fingers and DRIL
                     [double RING finger linked] 1 (TRIAD1); cd20360"
                     /db_xref="CDD:439021"
     Region          280..>406
                     /region_name="Ariadne"
                     /note="Ariadne domain; pfam19422"
                     /db_xref="CDD:437254"
     CDS             1..421
                     /gene="ARIH2"
                     /gene_synonym="ARI2; TRIAD1"
                     /coded_by="NM_001349218.2:517..1782"
                     /note="isoform f precursor is encoded by transcript
                     variant 13"
                     /db_xref="GeneID:10425"
                     /db_xref="HGNC:HGNC:690"
                     /db_xref="MIM:605615"
ORIGIN      
        1 mltaiscilp malvshsvak lilvnfhwqv seildryksn saqllvearv qpnpskhvpt
       61 shpphhcavc mqfvrkenll slacqhqfcr scweqhcsvl vkdgvgvgvs cmaqdcplrt
      121 pedfvfpllp neelrekyrr ylfrdyvesh yqlqlcpgad cpmvirvqep rarrvqcnrc
      181 nevfcfkcrq myhaptdcat irkwltkcad dsetanyisa htkdcpkcni cieknggcnh
      241 mqcskckhdf cwmclgdwkt hgseyyecsr ykenpdivnq sqqaqareal kkylfyferw
      301 enhnkslqle aqtyqrihek iqervmnnlg twidwqylqn aakllakcry tlqytypyay
      361 ymesgprkkl feyqqaqlea eienlswkve radsydrgdl enqmhiaeqr rrtllkdfhd
      421 t
//
LOCUS       NP_942584                435 aa            linear   PRI 18-DEC-2022
DEFINITION  metaxin-1 isoform 2 [Homo sapiens].
ACCESSION   NP_942584
VERSION     NP_942584.2
DBSOURCE    REFSEQ: accession NM_198883.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 435)
  AUTHORS   Li L, Yu S, Hu Q, Hai Y and Li Y.
  TITLE     Genome-scale CRISPRa screening identifies MTX1 as a contributor for
            sorafenib resistance in hepatocellular carcinoma by augmenting
            autophagy
  JOURNAL   Int J Biol Sci 17 (12), 3133-3144 (2021)
   PUBMED   34421355
  REMARK    GeneRIF: Genome-scale CRISPRa screening identifies MTX1 as a
            contributor for sorafenib resistance in hepatocellular carcinoma by
            augmenting autophagy.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 435)
  AUTHORS   Wagner F, Kunz TC, Chowdhury SR, Thiede B, Fraunholz M, Eger D and
            Kozjak-Pavlovic V.
  TITLE     Armadillo repeat-containing protein 1 is a dual localization
            protein associated with mitochondrial intermembrane space bridging
            complex
  JOURNAL   PLoS One 14 (10), e0218303 (2019)
   PUBMED   31644573
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 435)
  AUTHORS   Anderson AJ, Jackson TD, Stroud DA and Stojanovski D.
  TITLE     Mitochondria-hubs for regulating cellular biochemistry: emerging
            concepts and networks
  JOURNAL   Open Biol 9 (8), 190126 (2019)
   PUBMED   31387448
REFERENCE   4  (residues 1 to 435)
  AUTHORS   Petit E, Cartron PF, Oliver L and Vallette FM.
  TITLE     The phosphorylation of Metaxin 1 controls Bak activation during
            TNFalpha induced cell death
  JOURNAL   Cell Signal 30, 171-178 (2017)
   PUBMED   27845183
  REMARK    GeneRIF: after the induction of apoptosis, Bak switches from its
            association with Mtx2 and VDAC2 to a closer association with Mtx1.
REFERENCE   5  (residues 1 to 435)
  AUTHORS   Huynen MA, Muhlmeister M, Gotthardt K, Guerrero-Castillo S and
            Brandt U.
  TITLE     Evolution and structural organization of the mitochondrial contact
            site (MICOS) complex and the mitochondrial intermembrane space
            bridging (MIB) complex
  JOURNAL   Biochim Biophys Acta 1863 (1), 91-101 (2016)
   PUBMED   26477565
REFERENCE   6  (residues 1 to 435)
  AUTHORS   Armstrong LC, Saenz AJ and Bornstein P.
  TITLE     Metaxin 1 interacts with metaxin 2, a novel related protein
            associated with the mammalian mitochondrial outer membrane
  JOURNAL   J Cell Biochem 74 (1), 11-22 (1999)
   PUBMED   10381257
REFERENCE   7  (residues 1 to 435)
  AUTHORS   Winfield SL, Tayebi N, Martin BM, Ginns EI and Sidransky E.
  TITLE     Identification of three additional genes contiguous to the
            glucocerebrosidase locus on chromosome 1q21: implications for
            Gaucher disease
  JOURNAL   Genome Res 7 (10), 1020-1026 (1997)
   PUBMED   9331372
REFERENCE   8  (residues 1 to 435)
  AUTHORS   Armstrong LC, Komiya T, Bergman BE, Mihara K and Bornstein P.
  TITLE     Metaxin is a component of a preprotein import complex in the outer
            membrane of the mammalian mitochondrion
  JOURNAL   J Biol Chem 272 (10), 6510-6518 (1997)
   PUBMED   9045676
REFERENCE   9  (residues 1 to 435)
  AUTHORS   Long GL, Winfield S, Adolph KW, Ginns EI and Bornstein P.
  TITLE     Structure and organization of the human metaxin gene (MTX) and
            pseudogene
  JOURNAL   Genomics 33 (2), 177-184 (1996)
   PUBMED   8660965
REFERENCE   10 (residues 1 to 435)
  AUTHORS   Bornstein P, McKinney CE, LaMarca ME, Winfield S, Shingu T,
            Devarayalu S, Vos HL and Ginns EI.
  TITLE     Metaxin, a gene contiguous to both thrombospondin 3 and
            glucocerebrosidase, is required for embryonic development in the
            mouse: implications for Gaucher disease
  JOURNAL   Proc Natl Acad Sci U S A 92 (10), 4547-4551 (1995)
   PUBMED   7753840
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG717732.1, BC001906.1 and AI241389.1.
            On Mar 26, 2014 this sequence version replaced NP_942584.1.
            
            Transcript Variant: This variant (2) lacks an exon in the coding
            region, compared to variant 1. The encoded isoform (2) is shorter,
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC001906.1, BQ420450.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..435
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     Protein         1..435
                     /product="metaxin-1 isoform 2"
                     /note="mitochondrial outer membrane import complex protein
                     1"
                     /calculated_mol_wt=47864
     Site            order(171,173..174,176..177,180..181,217,220..221)
                     /site_type="other"
                     /note="putative C-terminal domain interface [polypeptide
                     binding]"
                     /db_xref="CDD:239376"
     Site            order(171,201..203,215..216)
                     /site_type="other"
                     /note="putative GSH binding site [chemical binding]"
                     /db_xref="CDD:239376"
     Region          172..262
                     /region_name="Tom37"
                     /note="Outer mitochondrial membrane transport complex
                     protein; pfam10568"
                     /db_xref="CDD:431364"
     Site            order(201,214..215,217..218,221)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:239376"
     Region          227..360
                     /region_name="GST_C_Metaxin1_3"
                     /note="C-terminal, alpha helical domain of Metaxin 1,
                     Metaxin 3, and similar proteins; cd03212"
                     /db_xref="CDD:198321"
     Site            order(230,237,316,319..320,323,327)
                     /site_type="other"
                     /note="putative N-terminal domain interface [polypeptide
                     binding]"
                     /db_xref="CDD:198321"
     CDS             1..435
                     /gene="MTX1"
                     /gene_synonym="MTX; MTXN"
                     /coded_by="NM_198883.3:107..1414"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS1101.1"
                     /db_xref="GeneID:4580"
                     /db_xref="HGNC:HGNC:7504"
                     /db_xref="MIM:600605"
ORIGIN      
        1 mllggpprsp rsgtspkgpw sstghvqfgk spqtwprrtr prspepaaps gvrgstwtrr
       61 rdsprragpt alsryvghlw mgrrppspea rgpvprssaa srarrslasp gispgpltat
      121 iggavagggp rqgraeahke vfpgqrvgkm aapmelfcws ggwglpsvdl dslavltyar
      181 ftgaplkvhk isnpwqspsg tlpalrtshg evisvphkii thlrkevhtf widtknyvev
      241 trkwyaeamp fplnfflpgr mqrqymerlq lltgehrped eeelekelyr earecltlls
      301 qrlgsqkfff gdapasldaf vfsylalllq aklpsgklqv hlrglhnlca ycthilslyf
      361 pwdgaevppq rqtpagpete eepyrrrnqi lsvlaglaam vgyallsgiv siqratpara
      421 pgtrtlgmae edeee
//
LOCUS       NP_110425                464 aa            linear   PRI 18-DEC-2022
DEFINITION  RCC1-like G exchanging factor-like protein isoform 1 [Homo
            sapiens].
ACCESSION   NP_110425
VERSION     NP_110425.2
DBSOURCE    REFSEQ: accession NM_030798.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 464)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 464)
  AUTHORS   Reyes A, Favia P, Vidoni S, Petruzzella V and Zeviani M.
  TITLE     RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly
            through their interaction with GTPases
  JOURNAL   PLoS Genet 16 (7), e1008923 (2020)
   PUBMED   32735630
  REMARK    GeneRIF: RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome
            assembly through their interaction with GTPases.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 464)
  AUTHORS   Koyama M, Sasaki T, Sasaki N and Matsuura Y.
  TITLE     Crystal structure of human WBSCR16, an RCC1-like protein in
            mitochondria
  JOURNAL   Protein Sci 26 (9), 1870-1877 (2017)
   PUBMED   28608466
  REMARK    GeneRIF: Using X-ray crystallography, established the structure of
            human Williams-Beuren Syndrome Chromosomal Region 16 (WBSCR16), and
            showed that WBSCR16 has seven-bladed b-propeller fold (the RCC1
            fold) with unique surface features.
REFERENCE   4  (residues 1 to 464)
  AUTHORS   Huang G, Massoudi D, Muir AM, Joshi DC, Zhang CL, Chiu SY and
            Greenspan DS.
  TITLE     WBSCR16 Is a Guanine Nucleotide Exchange Factor Important for
            Mitochondrial Fusion
  JOURNAL   Cell Rep 20 (4), 923-934 (2017)
   PUBMED   28746876
REFERENCE   5  (residues 1 to 464)
  AUTHORS   Arroyo JD, Jourdain AA, Calvo SE, Ballarano CA, Doench JG, Root DE
            and Mootha VK.
  TITLE     A Genome-wide CRISPR Death Screen Identifies Genes Essential for
            Oxidative Phosphorylation
  JOURNAL   Cell Metab 24 (6), 875-885 (2016)
   PUBMED   27667664
REFERENCE   6  (residues 1 to 464)
  AUTHORS   Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET,
            Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK,
            Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS,
            Rensvold JW, Taylor RW, Prokisch H, Kim JP, Coon JJ and Pagliarini
            DJ.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   7  (residues 1 to 464)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   8  (residues 1 to 464)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   9  (residues 1 to 464)
  AUTHORS   Wang J, Huo K, Ma L, Tang L, Li D, Huang X, Yuan Y, Li C, Wang W,
            Guan W, Chen H, Jin C, Wei J, Zhang W, Yang Y, Liu Q, Zhou Y, Zhang
            C, Wu Z, Xu W, Zhang Y, Liu T, Yu D, Zhang Y, Chen L, Zhu D, Zhong
            X, Kang L, Gan X, Yu X, Ma Q, Yan J, Zhou L, Liu Z, Zhu Y, Zhou T,
            He F and Yang X.
  TITLE     Toward an understanding of the protein interaction network of the
            human liver
  JOURNAL   Mol Syst Biol 7, 536 (2011)
   PUBMED   21988832
  REMARK    Erratum:[Mol Syst Biol. 2017 Dec 18;13(12 ):965. PMID: 29254952]
            Publication Status: Online-Only
REFERENCE   10 (residues 1 to 464)
  AUTHORS   Merla G, Ucla C, Guipponi M and Reymond A.
  TITLE     Identification of additional transcripts in the Williams-Beuren
            syndrome critical region
  JOURNAL   Hum Genet 110 (5), 429-438 (2002)
   PUBMED   12073013
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL536085.3 and BC007823.2.
            On Jul 26, 2013 this sequence version replaced NP_110425.1.
            
            Summary: This gene encodes a protein containing regulator of
            chromosome condensation 1-like repeats. The encoded protein may
            function as a guanine nucleotide exchange factor. This gene is
            located in a region of chromosome 7 that is deleted in
            Williams-Beuren syndrome, a multisystem developmental disorder.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC007823.2, SRR3476690.980767.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000610322.5/ ENSP00000480364.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..464
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     Protein         1..464
                     /product="RCC1-like G exchanging factor-like protein
                     isoform 1"
                     /note="Williams-Beuren syndrome chromosomal region 16
                     protein; RCC1-like G exchanging factor-like protein;
                     Williams-Beuren syndrome chromosome region 16"
                     /calculated_mol_wt=46787
     transit_peptide 1..31
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (Q96I51.3)"
                     /calculated_mol_wt=3129
     mat_peptide     32..464
                     /product="RCC1-like G exchanging factor-like protein.
                     /id=PRO_0000206656"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I51.3)"
                     /calculated_mol_wt=46787
     Region          58..124
                     /region_name="RCC1 1. /evidence=ECO:0000255,
                     ECO:0000305|PubMed:28608466"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I51.3)"
     Region          <98..389
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          128..191
                     /region_name="RCC1 2. /evidence=ECO:0000255,
                     ECO:0000305|PubMed:28608466"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I51.3)"
     Region          193..247
                     /region_name="RCC1 3. /evidence=ECO:0000255,
                     ECO:0000305|PubMed:28608466"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I51.3)"
     Region          248..300
                     /region_name="RCC1 4. /evidence=ECO:0000255,
                     ECO:0000305|PubMed:28608466"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I51.3)"
     Region          302..353
                     /region_name="RCC1 5. /evidence=ECO:0000255,
                     ECO:0000305|PubMed:28608466"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I51.3)"
     Region          354..411
                     /region_name="RCC1 6. /evidence=ECO:0000255,
                     ECO:0000305|PubMed:28608466"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I51.3)"
     Region          396..425
                     /region_name="RCC1_2"
                     /note="Regulator of chromosome condensation (RCC1) repeat;
                     pfam13540"
                     /db_xref="CDD:433292"
     Region          412..461
                     /region_name="RCC1 7. /evidence=ECO:0000255,
                     ECO:0000305|PubMed:28608466"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96I51.3)"
     Region          412..455
                     /region_name="RCC1"
                     /note="Regulator of chromosome condensation (RCC1) repeat;
                     pfam00415"
                     /db_xref="CDD:395335"
     CDS             1..464
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /coded_by="NM_030798.5:66..1460"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5577.1"
                     /db_xref="GeneID:81554"
                     /db_xref="HGNC:HGNC:14948"
ORIGIN      
        1 malvalvaga rlgrrlsgpg lgrghwtaag rsrsrreaae aeaevpvvqy vgeraaradr
       61 vfvwgfsfsg algvpsfvvp ssgpgpraga rprrriqpvp yrleldqkis saacgygftl
      121 lssktadvtk vwgmglnkds qlgfhrsrkd ktrgyeyvle pspvslpldr pqetrvlqvs
      181 cgrahslvlt dregvfsmgn nsygqcgrkv veneiysesh rvhrmqdfdg qvvqvacgqd
      241 hslfltdkge vyscgwgadg qtglghynit ssptklggdl agvnviqvat ygdcclavsa
      301 dgglfgwgns eylqlasvtd stqvnvprcl hfsgvgkvrq aacggtgcav lngeghvfvw
      361 gygilgkgpn lvesavpemi pptlfgltef npeiqvsrir cglshfaalt nkgelfvwgk
      421 nirgclgigr ledqyfpwrv tmpgepvdva cgvdhmvtla ksfi
//
LOCUS       NP_001317145             401 aa            linear   PRI 18-DEC-2022
DEFINITION  2',3'-cyclic-nucleotide 3'-phosphodiesterase isoform 2 [Homo
            sapiens].
ACCESSION   NP_001317145 XP_006721764
VERSION     NP_001317145.1
DBSOURCE    REFSEQ: accession NM_001330216.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 401)
  AUTHORS   Qu W, Jiang L and Hou G.
  TITLE     Circ-AFF2/miR-650/CNP axis promotes proliferation, inflammatory
            response, migration, and invasion of rheumatoid arthritis synovial
            fibroblasts
  JOURNAL   J Orthop Surg Res 16 (1), 165 (2021)
   PUBMED   33653372
  REMARK    GeneRIF: Circ-AFF2/miR-650/CNP axis promotes proliferation,
            inflammatory response, migration, and invasion of rheumatoid
            arthritis synovial fibroblasts.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 401)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 401)
  AUTHORS   Al-Abdi L, Al Murshedi F, Elmanzalawy A, Al Habsi A, Helaby R,
            Ganesh A, Ibrahim N, Patel N and Alkuraya FS.
  TITLE     CNP deficiency causes severe hypomyelinating leukodystrophy in
            humans
  JOURNAL   Hum Genet 139 (5), 615-622 (2020)
   PUBMED   32128616
  REMARK    GeneRIF: CNP deficiency causes severe hypomyelinating
            leukodystrophy.
REFERENCE   4  (residues 1 to 401)
  AUTHORS   Li Y, Zhao Y and Wang Y.
  TITLE     2',3'-Cyclic-nucleotide 3'-phosphodiesterase contributes to
            epithelial-mesenchymal transition of lens epithelial cells through
            the notch signalling pathway
  JOURNAL   Cell Prolif 52 (6), e12707 (2019)
   PUBMED   31617266
  REMARK    GeneRIF: 2',3'-Cyclic-nucleotide 3'-phosphodiesterase contributes
            to epithelial-mesenchymal transition of lens epithelial cells
            through the notch signalling pathway
REFERENCE   5  (residues 1 to 401)
  AUTHORS   Garcia-Agudo LF, Janova H, Sendler LE, Arinrad S, Steixner AA,
            Hassouna I, Balmuth E, Ronnenberg A, Schopf N, van der Flier FJ,
            Begemann M, Martens H, Weber MS, Boretius S, Nave KA and Ehrenreich
            H.
  TITLE     Genetically induced brain inflammation by Cnp deletion transiently
            benefits from microglia depletion
  JOURNAL   FASEB J 33 (7), 8634-8647 (2019)
   PUBMED   31090455
  REMARK    GeneRIF: Catatonia-related executive dysfunction and brain atrophy
            of Cnp(-/-) mice fail to improve under PLX5622.
REFERENCE   6  (residues 1 to 401)
  AUTHORS   Thompson RJ.
  TITLE     2',3'-cyclic nucleotide-3'-phosphohydrolase and signal transduction
            in central nervous system myelin
  JOURNAL   Biochem Soc Trans 20 (3), 621-626 (1992)
   PUBMED   1385234
  REMARK    Review article
REFERENCE   7  (residues 1 to 401)
  AUTHORS   Douglas AJ, Fox MF, Abbott CM, Hinks LJ, Sharpe G, Povey S and
            Thompson RJ.
  TITLE     Structure and chromosomal localization of the human 2',3'-cyclic
            nucleotide 3'-phosphodiesterase gene
  JOURNAL   Ann Hum Genet 56 (3), 243-254 (1992)
   PUBMED   1360194
REFERENCE   8  (residues 1 to 401)
  AUTHORS   Sprinkle TJ, Lanclos KD and Lapp DF.
  TITLE     Assignment of the human 2',3'-cyclic nucleotide 3'-phosphohydrolase
            gene to chromosome 17
  JOURNAL   Genomics 13 (3), 877-880 (1992)
   PUBMED   1322358
REFERENCE   9  (residues 1 to 401)
  AUTHORS   Leroy MJ, Dumler I, Lugnier C, Shushakova ND and Ferre F.
  TITLE     A new peptide (1150Da) selectively activates the calcium-calmodulin
            sensitive isoform of cyclic nucleotide phosphodiesterase from human
            myometrium
  JOURNAL   Biochem Biophys Res Commun 184 (2), 700-705 (1992)
   PUBMED   1315529
REFERENCE   10 (residues 1 to 401)
  AUTHORS   Staugaitis SM, Bernier L, Smith PR and Colman DR.
  TITLE     Expression of the oligodendrocyte marker 2'3'-cyclic nucleotide
            3'-phosphodiesterase in non-glial cells
  JOURNAL   J Neurosci Res 25 (4), 556-560 (1990)
   PUBMED   2161933
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC125257.4 and HY337437.1.
            On Aug 20, 2016 this sequence version replaced XP_006721764.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.255924.1,
                                           SRR1803617.112239.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..401
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     Protein         1..401
                     /product="2',3'-cyclic-nucleotide 3'-phosphodiesterase
                     isoform 2"
                     /EC_number="3.1.4.37"
                     /note="2', 3' cyclic nucleotide 3' phosphohydrolase;
                     CNPase"
                     /calculated_mol_wt=44968
     Region          32..146
                     /region_name="AAA_33"
                     /note="AAA domain; pfam13671"
                     /db_xref="CDD:433395"
     Region          166..379
                     /region_name="CNPase"
                     /note="2',3'-cyclic nucleotide 3'-phosphodiesterase (CNP
                     or CNPase); pfam05881"
                     /db_xref="CDD:428661"
     CDS             1..401
                     /gene="CNP"
                     /gene_synonym="CNP1; HLD20"
                     /coded_by="NM_001330216.2:215..1420"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS82123.1"
                     /db_xref="GeneID:1267"
                     /db_xref="HGNC:HGNC:2158"
                     /db_xref="MIM:123830"
ORIGIN      
        1 msssgakdkp elqfpflqde dtvatlleck tlfilrglpg sgkstlarvi vdkyrdgtkm
       61 vsadaykitp gargafseey krldedlaay crrrdirilv lddtnherer leqlfemadq
      121 yqyqvvlvep ktawrldcaq lkeknqwqls addlkklkpg lekdflplyf gwfltkksse
      181 tlrkagqvfl eelgnhkafk kelrqfvpgd eprekmdlvt yfgkrppgvl hcttkfcdyg
      241 kapgaeeyaq qdvlkksysk aftltisalf vtpkttgarv elseqqlqlw psdvdklspt
      301 dnlprgsrah itlgcaadve avqtgldlle ilrqekggsr geevgelsrg klyslgngrw
      361 mltlaknmev raiftgyygk gkpvptqgsr kggalqscti i
//
LOCUS       NP_699162                237 aa            linear   PRI 22-DEC-2022
DEFINITION  BTB/POZ domain-containing protein KCTD6 [Homo sapiens].
ACCESSION   NP_699162
VERSION     NP_699162.3
DBSOURCE    REFSEQ: accession NM_153331.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 237)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 237)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 237)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (residues 1 to 237)
  AUTHORS   Stockum A, Snijders AP and Maertens GN.
  TITLE     USP11 deubiquitinates RAE1 and plays a key role in bipolar spindle
            formation
  JOURNAL   PLoS One 13 (1), e0190513 (2018)
   PUBMED   29293652
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 237)
  AUTHORS   Smaldone G, Pirone L, Pedone E, Marlovits T, Vitagliano L and
            Ciccarelli L.
  TITLE     The BTB domains of the potassium channel tetramerization domain
            proteins prevalently assume pentameric states
  JOURNAL   FEBS Lett 590 (11), 1663-1671 (2016)
   PUBMED   27152988
REFERENCE   6  (residues 1 to 237)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   7  (residues 1 to 237)
  AUTHORS   Pirone L, Esposito C, Correale S, Graziano G, Di Gaetano S,
            Vitagliano L and Pedone E.
  TITLE     Thermal and chemical stability of two homologous POZ/BTB domains of
            KCTD proteins characterized by a different oligomeric organization
  JOURNAL   Biomed Res Int 2013, 162674 (2013)
   PUBMED   24307990
  REMARK    GeneRIF: A biophysical characterization of the POZ/BTB of KCTD6, is
            reported.
REFERENCE   8  (residues 1 to 237)
  AUTHORS   Lange S, Perera S, Teh P and Chen J.
  TITLE     Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1
            (sAnk1.5) protein turnover
  JOURNAL   Mol Biol Cell 23 (13), 2490-2504 (2012)
   PUBMED   22573887
  REMARK    GeneRIF: Obscurin and KCTD6 regulate cullin-dependent small
            ankyrin-1 (sAnk1.5) protein turnover
REFERENCE   9  (residues 1 to 237)
  AUTHORS   De Smaele E, Di Marcotullio L, Moretti M, Pelloni M, Occhione MA,
            Infante P, Cucchi D, Greco A, Pietrosanti L, Todorovic J, Coni S,
            Canettieri G, Ferretti E, Bei R, Maroder M, Screpanti I and Gulino
            A.
  TITLE     Identification and characterization of KCASH2 and KCASH3, 2 novel
            Cullin3 adaptors suppressing histone deacetylase and Hedgehog
            activity in medulloblastoma
  JOURNAL   Neoplasia 13 (4), 374-385 (2011)
   PUBMED   21472142
  REMARK    GeneRIF: Rescuing KCASHs expression reduces the Hedgehog-dependent
            medulloblastoma growth, suggesting that loss of members of this
            novel family of native HDAC inhibitors is crucial in sustaining Hh
            pathway-mediated tumorigenesis.
REFERENCE   10 (residues 1 to 237)
  AUTHORS   Bennett EJ, Rush J, Gygi SP and Harper JW.
  TITLE     Dynamics of cullin-RING ubiquitin ligase network revealed by
            systematic quantitative proteomics
  JOURNAL   Cell 143 (6), 951-965 (2010)
   PUBMED   21145461
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK074934.1, BC022893.1 and AA721100.1.
            On Jun 10, 2008 this sequence version replaced NP_699162.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 both encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074934.1, AK027572.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..237
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.3"
     Protein         1..237
                     /product="BTB/POZ domain-containing protein KCTD6"
                     /note="potassium channel tetramerisation domain containing
                     6; potassium channel tetramerization domain-containing
                     protein 6"
                     /calculated_mol_wt=27479
     Region          1..104
                     /region_name="Interaction with ANK1 isoform Mu17.
                     /evidence=ECO:0000269|PubMed:22573887"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NC69.2)"
     Region          10..113
                     /region_name="BTB_POZ_KCTD6"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in potassium
                     channel tetramerization domain-containing protein 6
                     (KCTD6); cd18394"
                     /db_xref="CDD:349702"
     Region          10..110
                     /region_name="Interaction with CUL3.
                     /evidence=ECO:0000269|PubMed:25974686"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NC69.2)"
     Region          113..187
                     /region_name="Interaction with USP21.
                     /evidence=ECO:0000269|PubMed:27621083"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NC69.2)"
     CDS             1..237
                     /gene="KCTD6"
                     /gene_synonym="KCASH3"
                     /coded_by="NM_153331.3:392..1105"
                     /db_xref="CCDS:CCDS2891.1"
                     /db_xref="GeneID:200845"
                     /db_xref="HGNC:HGNC:22235"
                     /db_xref="MIM:618791"
ORIGIN      
        1 mdngdwgymm tdpvtlnvgg hlyttslttl trypdsmlga mfggdfptar dpqgnyfidr
       61 dgplfryvln flrtseltlp ldfkefdllr keadfyqiep liqclndpkp lypmdtfeev
      121 velsstrkls kysnpvavii tqltittkvh sllegisnyf tkwnkhmmdt rdcqvsftfg
      181 pcdyhqevsl rvhlmeyitk qgftirntrv hhmseranen tvehnwtfcr larktdd
//
LOCUS       NP_110433                121 aa            linear   PRI 24-DEC-2022
DEFINITION  uncharacterized protein C1orf21 [Homo sapiens].
ACCESSION   NP_110433
VERSION     NP_110433.1
DBSOURCE    REFSEQ: accession NM_030806.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 121)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 121)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   3  (residues 1 to 121)
  AUTHORS   Sood R, Bonner TI, Makalowska I, Stephan DA, Robbins CM, Connors
            TD, Morgenbesser SD, Su K, Faruque MU, Pinkett H, Graham C,
            Baxevanis AD, Klinger KW, Landes GM, Trent JM and Carpten JD.
  TITLE     Cloning and characterization of 13 novel transcripts and the human
            RGS8 gene from the 1q25 region encompassing the hereditary prostate
            cancer (HPC1) locus
  JOURNAL   Genomics 73 (2), 211-222 (2001)
   PUBMED   11318611
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM793961.1, AY258286.1, AK056487.1, AF312864.1 and AL358152.9.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF312864.1, SRR1660805.12911.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000235307.7/ ENSP00000235307.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..121
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.3"
     Protein         1..121
                     /product="uncharacterized protein C1orf21"
                     /note="proliferation-inducing protein 13; cell
                     proliferation-inducing gene 13 protein"
                     /calculated_mol_wt=13734
     Region          1..28
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H246.1)"
     Region          2..118
                     /region_name="DUF4612"
                     /note="Domain of unknown function (DUF4612); pfam15389"
                     /db_xref="CDD:434687"
     Region          60..82
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H246.1)"
     Site            95
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9H246.1)"
     Site            115
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9H246.1)"
     CDS             1..121
                     /gene="C1orf21"
                     /gene_synonym="PIG13"
                     /coded_by="NM_030806.4:465..830"
                     /db_xref="CCDS:CCDS1362.1"
                     /db_xref="GeneID:81563"
                     /db_xref="HGNC:HGNC:15494"
ORIGIN      
        1 mgcasakhva tvqneeeaqk gknyqngdvf gdeyrikpve evkymkngae eeqkiaarnq
       61 enleksassn vrlktnkevp glvhqpranm hisesqqeff rmldekiekg rdycseeedi
      121 t
//
LOCUS       NP_065778               1066 aa            linear   PRI 25-DEC-2022
DEFINITION  zinc finger and BTB domain-containing protein 21 isoform L [Homo
            sapiens].
ACCESSION   NP_065778
VERSION     NP_065778.3
DBSOURCE    REFSEQ: accession NM_020727.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1066)
  AUTHORS   Heckerman D, Traynor BJ, Picca A, Calvani R, Marzetti E, Hernandez
            D, Nalls M, Arepali S, Ferrucci L and Landi F.
  TITLE     Genetic variants associated with physical performance and
            anthropometry in old age: a genome-wide association study in the
            ilSIRENTE cohort
  JOURNAL   Sci Rep 7 (1), 15879 (2017)
   PUBMED   29158487
  REMARK    GeneRIF: Genotyping was accomplished on Infinium Human610-QUAD
            version 1. In the ilSIRENTE population, genetic variants in ZNF295
            and C2CD2 (rs928874 and rs1788355) on chromosome 21q22.3, were
            significantly associated with the 4-meter gait speed
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1066)
  AUTHORS   Bartke T, Vermeulen M, Xhemalce B, Robson SC, Mann M and Kouzarides
            T.
  TITLE     Nucleosome-interacting proteins regulated by DNA and histone
            methylation
  JOURNAL   Cell 143 (3), 470-484 (2010)
   PUBMED   21029866
REFERENCE   3  (residues 1 to 1066)
  AUTHORS   Wang J, Kudoh J, Takayanagi A and Shimizu N.
  TITLE     Novel human BTB/POZ domain-containing zinc finger protein ZNF295 is
            directly associated with ZFP161
  JOURNAL   Biochem Biophys Res Commun 327 (2), 615-627 (2005)
   PUBMED   15629158
  REMARK    GeneRIF: ZNF295 may be involved in the bi-directional control of
            gene expression in concert with ZFP161
REFERENCE   4  (residues 1 to 1066)
  AUTHORS   Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S,
            Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett
            JR, Langeberg LK, Scott JD and Pawson T.
  TITLE     Proteomic, functional, and domain-based analysis of in vivo 14-3-3
            binding proteins involved in cytoskeletal regulation and cellular
            organization
  JOURNAL   Curr Biol 14 (16), 1436-1450 (2004)
   PUBMED   15324660
REFERENCE   5  (residues 1 to 1066)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   6  (residues 1 to 1066)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human RPE/choroid for the
            NEIBank Project: over 6000 non-redundant transcripts, novel genes
            and splice variants
  JOURNAL   Mol Vis 8, 205-220 (2002)
   PUBMED   12107410
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP230048.1, BC063290.1 and AB041014.1.
            On Jul 16, 2004 this sequence version replaced NP_065778.2.
            
            Transcript Variant: This variant (2) contains two alternate exons
            in the 5' UTR compared to variant 5. Variants 1, 2, and 5 encode
            the longer isoform (L).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.241549.1,
                                           SRR1660805.35264.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162946 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1066
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..1066
                     /product="zinc finger and BTB domain-containing protein 21
                     isoform L"
                     /note="zinc finger and BTB domain-containing protein 21;
                     zinc finger protein 295"
                     /calculated_mol_wt=118740
     Region          12..123
                     /region_name="BTB_POZ_ZBTB21_ZNF295"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in zinc finger and
                     BTB domain-containing protein 21 (ZBTB21); cd18209"
                     /db_xref="CDD:349518"
     Region          30..96
                     /region_name="Mediates homodimerization"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Region          154..196
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Site            345
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Site            381
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Region          388..442
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Site            411
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Site            422
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Site            431
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Site            434
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Site            435
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Site            438
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Region          454..485
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Region          498..525
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Region          545..>598
                     /region_name="SUF4-like"
                     /note="N-terminal domain of Oryza sativa transcription
                     factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana
                     SUF4 (AtSUF4), and similar proteins; cd20908"
                     /db_xref="CDD:411020"
     Region          548..569
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          548..569
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(553,559,566,568,576,583)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411020"
     Region          577..598
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Site            605
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Region          670..692
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          672..692
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Site            714
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Region          746..773
                     /region_name="zf_C2H2_6"
                     /note="Zinc Finger domain; pfam18450"
                     /db_xref="CDD:408245"
     Region          806..840
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Region          879..906
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Region          911..931
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Site            order(916,918,920,922..923,926..927,930,944,946..948,
                     954..955,959)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275370"
     Region          939..960
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Region          963..1014
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     Site            1003
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9ULJ3.2)"
     CDS             1..1066
                     /gene="ZBTB21"
                     /gene_synonym="ZNF295"
                     /coded_by="NM_020727.5:123..3323"
                     /note="isoform L is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS13678.1"
                     /db_xref="GeneID:49854"
                     /db_xref="HGNC:HGNC:13083"
                     /db_xref="MIM:616485"
ORIGIN      
        1 megllhyinp ahaisllsal neerlkgqlc dvllivgdqk frahknvlaa sseyfqslft
       61 nkenesqtvf qldfcepdaf dnvlnyiyss slfvekssla avqelgyslg isfltnivsk
      121 tpqapfptcp nrkkvfvedd enssqkrsvi vcqsrneaqg ktvsqnqpdv shtsrpspsi
      181 avkantnkph vpkpieplhn lsltekswpk dssvvyaksl ehsgslddpn rislvkrnav
      241 lpskplqdre amddkpgvsg qlpkgkalel alkrprppvl svcsssetpy llketnkgng
      301 qgedrnllyy sklglvipss gsgsgnqsid rsgplvksll rrslsmdsqv pvyspsidlk
      361 ssqgsssvss dapgnvlcal sqksslkdcs ektalddrpq vlqphrlrsf sasqstdreg
      421 aspvtevrik tepssplsdp sdiirvtvgd aattaaasss svtrdlslkt eddqkdmsrl
      481 pakrrfqadr rlpfkklkvn ehgspvsedn feegssptll dadfpdsdln kdefgelegt
      541 rpnkkfkckh clkifrstag lhrhvnmyhn pekpyacdic hkrfhtnfkv wthcqtqhgi
      601 vknpspasss havldekfqr klidivrere ikkaliiklr rgkpgfqgqs ssqaqqvikr
      661 nlrsrakgay ictycgkayr flsqfkqhik mhpgekplgv nkvakpkeha plaspvenke
      721 vyqcrlcnak lsslleqgsh erlcrnaavc pycslrffsp elkqeheskc eykkltclec
      781 mrtfkssfsi wrhqvevhnq nnmaptenfs lpvldhngdv tgssrpqsqp epnkvnhivt
      841 tkddnvfsds seqvnfdsed ssclpedlsl skqlkiqvke epveeaeeea peastapkea
      901 gpskeaslwp cekcgkmftv hkqlerhqel lcsvkpfich vcnkafrtnf rlwshfqshm
      961 sqaseesahk esevcpvptn spsppplppp pplpkiqple pdsptglsen ptpateklfv
     1021 pqesdtlfyh applsaitfk rqfmcklchr tfktafslws heqthn
//
LOCUS       NP_001035526             477 aa            linear   PRI 25-DEC-2022
DEFINITION  tyrosine--tRNA ligase, mitochondrial precursor [Homo sapiens].
ACCESSION   NP_001035526
VERSION     NP_001035526.1
DBSOURCE    REFSEQ: accession NM_001040436.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 477)
  AUTHORS   Fang Q, Lin J, Gao L, Pan R and Zheng X.
  TITLE     Targeting mitochondrial tyrosyl-tRNA synthetase YARS2 suppresses
            colorectal cancer progression
  JOURNAL   Cancer Biol Ther 23 (1), 1-8 (2022)
   PUBMED   36154909
  REMARK    GeneRIF: Targeting mitochondrial tyrosyl-tRNA synthetase YARS2
            suppresses colorectal cancer progression.
REFERENCE   2  (residues 1 to 477)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 477)
  AUTHORS   Fan W, Zheng J, Kong W, Cui L, Aishanjiang M, Yi Q, Wang M, Cang X,
            Tang X, Chen Y, Mo JQ, Sondheimer N, Ge W and Guan MX.
  TITLE     Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to
            the phenotypic expression of the deafness-associated tRNASer(UCN)
            7511A>G mutation
  JOURNAL   J Biol Chem 294 (50), 19292-19305 (2019)
   PUBMED   31685661
  REMARK    GeneRIF: findings provide molecular-level insights into the
            pathophysiology of maternally transmitted deafness arising from the
            synergy between tRNA(Ser(UCN)) and mitochondrial YARS mutations
REFERENCE   4  (residues 1 to 477)
  AUTHORS   Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR,
            Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA,
            Steensma DP, Rennings AJ, Simons A, Schaap N, Roodenburg RJ,
            Kleefstra T, Arenillas L, Fita-Torro J, Ahmed R, Abboud M, Bechara
            E, Farah R, Tamminga RYJ, Bottomley SS, Sanchez M, Huls G, Swinkels
            DW, Christodoulou J and Fleming MD.
  TITLE     The phenotypic spectrum of germline YARS2 variants: from isolated
            sideroblastic anemia to mitochondrial myopathy, lactic acidosis and
            sideroblastic anemia 2
  JOURNAL   Haematologica 103 (12), 2008-2015 (2018)
   PUBMED   30026338
  REMARK    GeneRIF: Data suggest that biallelic tyrosyl-tRNA synthetase 2
            (YARS2) variants, including severe loss-of-function alleles should
            be considered as a cause of isolated congenital sideroblastic
            anemia, as well as the myopathy, lactic acidosis and sideroblastic
            anemia 2 (MLASA2) syndromic phenotype.
REFERENCE   5  (residues 1 to 477)
  AUTHORS   Smith F, Hopton S, Dallabona C, Gilberti M, Falkous G, Norwood F,
            Donnini C, Gorman GS, Clark B, Taylor RW and Kulasekararaj AG.
  TITLE     Sideroblastic anemia with myopathy secondary to novel, pathogenic
            missense variants in the YARS2 gene
  JOURNAL   Haematologica 103 (12), e564-e566 (2018)
   PUBMED   29976739
  REMARK    GeneRIF: tyrosyl-tRNA synthetase 2 tyrosine
REFERENCE   6  (residues 1 to 477)
  AUTHORS   Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M,
            Compton A, Lim SC, Thorburn D, Ryan MT, Giege R, Bahlo M and
            Christodoulou J.
  TITLE     Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2,
            causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA
            syndrome
  JOURNAL   Am J Hum Genet 87 (1), 52-59 (2010)
   PUBMED   20598274
  REMARK    GeneRIF: The YARS2 mutation reported here is an alternative cause
            of MLASA.
REFERENCE   7  (residues 1 to 477)
  AUTHORS   Bonnefond L, Frugier M, Touze E, Lorber B, Florentz C, Giege R,
            Sauter C and Rudinger-Thirion J.
  TITLE     Crystal structure of human mitochondrial tyrosyl-tRNA synthetase
            reveals common and idiosyncratic features
  JOURNAL   Structure 15 (11), 1505-1516 (2007)
   PUBMED   17997975
  REMARK    GeneRIF: the structure of a strictly mitochondrial human
            synthetase, namely tyrosyl-tRNA synthetase (mt-TyrRS), in complex
            with an adenylate analog at 2.2 A resolution
REFERENCE   8  (residues 1 to 477)
  AUTHORS   Szafranski K, Schindler S, Taudien S, Hiller M, Huse K, Jahn N,
            Schreiber S, Backofen R and Platzer M.
  TITLE     Violating the splicing rules: TG dinucleotides function as
            alternative 3' splice sites in U2-dependent introns
  JOURNAL   Genome Biol 8 (8), R154 (2007)
   PUBMED   17672918
  REMARK    GeneRIF: the apparent occurrence of an unusual TG 3' splice site in
            intron 5 is discussed
REFERENCE   9  (residues 1 to 477)
  AUTHORS   Bonnefond L, Frugier M, Giege R and Rudinger-Thirion J.
  TITLE     Human mitochondrial TyrRS disobeys the tyrosine identity rules
  JOURNAL   RNA 11 (5), 558-562 (2005)
   PUBMED   15840810
  REMARK    GeneRIF: first example of a TyrRS lacking specificity toward N1-N72
            and thus of a TyrRS disobeying the identity rules
REFERENCE   10 (residues 1 to 477)
  AUTHORS   Bonnefond L, Fender A, Rudinger-Thirion J, Giege R, Florentz C and
            Sissler M.
  TITLE     Toward the full set of human mitochondrial aminoacyl-tRNA
            synthetases: characterization of AspRS and TyrRS
  JOURNAL   Biochemistry 44 (12), 4805-4816 (2005)
   PUBMED   15779907
  REMARK    GeneRIF: The gene for mitochondrial tyrosyl-tRNA synthetase is
            described and the initial characterization of the enzyme is
            reported. Genes for the remaining missing synthetases have also
            been found with the exception of human glutaminyl-tRNA synthetase.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA748673.1, BC015625.2,
            BM979973.1, EB386795.1 and AI861961.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a mitochondrial protein that catalyzes
            the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are
            associated with myopathy with lactic acidosis and sideroblastic
            anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.20663.1,
                                           SRR7410570.498135.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000324868.13/
                                                  ENSP00000320658.8
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..477
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     Protein         1..477
                     /product="tyrosine--tRNA ligase, mitochondrial precursor"
                     /EC_number="6.1.1.1"
                     /note="tyrosine tRNA ligase 2, mitochondrial;
                     tyrosine--tRNA ligase, mitochondrial; tyrosyl-tRNA
                     synthetase 2, mitochondrial"
                     /calculated_mol_wt=51395
     transit_peptide 1..16
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (Q9Y2Z4.2)"
                     /calculated_mol_wt=1822
     mat_peptide     17..477
                     /product="Tyrosine--tRNA ligase, mitochondrial.
                     /id=PRO_0000035830"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2Z4.2)"
                     /calculated_mol_wt=51395
     Region          73..474
                     /region_name="PRK13354"
                     /note="tyrosyl-tRNA synthetase; Provisional"
                     /db_xref="CDD:237360"
     Region          82..91
                     /region_name="'HIGH' region. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2Z4.2)"
     Region          281..285
                     /region_name="'KMSKS' region. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2Z4.2)"
     Site            355
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2Z4.2)"
     Site            367
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8BYL4; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2Z4.2)"
     CDS             1..477
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /coded_by="NM_001040436.3:24..1457"
                     /db_xref="CCDS:CCDS31770.1"
                     /db_xref="GeneID:51067"
                     /db_xref="HGNC:HGNC:24249"
                     /db_xref="MIM:610957"
ORIGIN      
        1 maapilrsfs wgrwsgtlnl svllplglrk ahsgaqglla aqkarglfkd ffpetgtkie
       61 lpelfdrgta sfpqtiycgf dptadslhvg hllallglfh lqraghnvia lvggatarlg
      121 dpsgrtkere aletervran aralrlglea laanhqqlft dgrswgsftv ldnsawyqkq
      181 hlvdflaavg ghfrmgtlls rqsvqlrlks pegmslaeff yqvlqaydfy ylfqrygcrv
      241 qlggsdqlgn imsgyefink ltgedvfgit vplitsttga klgksagnav wlnrdktspf
      301 elyqffvrqp ddsverylkl ftflplpeid himqlhvkep errgpqkrla aevtklvhgr
      361 egldsakrct qalyhssida levmsdqelk elfkeapfse ffldpgtsvl dtcrkanaip
      421 dgprgyrmit eggvsinhqq vtnpesvliv gqhilkngls llkigkrnfy iikwlql
//
LOCUS       NP_619533                 45 aa            linear   PRI 25-DEC-2022
DEFINITION  bcl-2-like protein 11 isoform 8 [Homo sapiens].
ACCESSION   NP_619533
VERSION     NP_619533.1
DBSOURCE    REFSEQ: accession NM_138627.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 45)
  AUTHORS   Regis S, Dondero A, Spaggiari GM, Serra M, Caliendo F, Bottino C
            and Castriconi R.
  TITLE     miR-24-3p down-regulates the expression of the apoptotic factors
            FasL and BIM in human natural killer cells
  JOURNAL   Cell Signal 98, 110415 (2022)
   PUBMED   35870695
  REMARK    GeneRIF: miR-24-3p down-regulates the expression of the apoptotic
            factors FasL and BIM in human natural killer cells.
REFERENCE   2  (residues 1 to 45)
  AUTHORS   Xiu M, Luan H, Gu X, Liu C and Xu D.
  TITLE     MicroRNA-17-5p Protects against Propofol Anesthesia-Induced
            Neurotoxicity and Autophagy Impairment via Targeting BCL2L11
  JOURNAL   Comput Math Methods Med 2022, 6018037 (2022)
   PUBMED   35799645
  REMARK    GeneRIF: MicroRNA-17-5p Protects against Propofol
            Anesthesia-Induced Neurotoxicity and Autophagy Impairment via
            Targeting BCL2L11.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 45)
  AUTHORS   Wang H, Lin S, Yang Y, Zhao M, Li X and Zhang L.
  TITLE     Significant role of long non-coding RNA MALAT1 in deep vein
            thrombosis via the regulation of vascular endothelial cell
            physiology through the microRNA-383-5p/BCL2L11 axis
  JOURNAL   Bioengineered 13 (5), 13728-13738 (2022)
   PUBMED   35706417
  REMARK    GeneRIF: Significant role of long non-coding RNA MALAT1 in deep
            vein thrombosis via the regulation of vascular endothelial cell
            physiology through the microRNA-383-5p/BCL2L11 axis.
REFERENCE   4  (residues 1 to 45)
  AUTHORS   Zhu YQ and Wu LY.
  TITLE     [Effect of U2AF1 Mutation to Inflammatory Cytokine Expression in
            SKM-1 Cells through FOXO3a-Bim Signaling Pathway]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 29 (6), 1858-1863 (2021)
   PUBMED   34893123
  REMARK    GeneRIF: [Effect of U2AF1 Mutation to Inflammatory Cytokine
            Expression in SKM-1 Cells through FOXO3a-Bim Signaling Pathway].
REFERENCE   5  (residues 1 to 45)
  AUTHORS   Cardona AF, Ordonez-Reyes C, Ruiz-Patino A, Garcia-Robledo JE,
            Barron LZ, Recondo G, Rojas L, Corrales L, Martin C, Barron F,
            Sotelo C, Rodriguez J, Ricaurte L, Rolfo C, Avila J, Mayorga D,
            Archila P, Otero J, Mas L, Bermudez M, Gamez T, Carranza H, Vargas
            C, Rosell R and Arrieta O.
  TITLE     EGFR Inhibitors Plus Bevacizumab are Superior Than EGFR Inhibitors
            Alone as First-Line Setting in Advanced NSCLC With EGFR Mutations
            and BIM Deletion Polymorphisms (BIM-CLICaP)
  JOURNAL   JCO Precis Oncol 5, 839-848 (2021)
   PUBMED   34994616
  REMARK    GeneRIF: EGFR Inhibitors Plus Bevacizumab are Superior Than EGFR
            Inhibitors Alone as First-Line Setting in Advanced NSCLC With EGFR
            Mutations and BIM Deletion Polymorphisms (BIM-CLICaP).
REFERENCE   6  (residues 1 to 45)
  AUTHORS   Ng KP, Hillmer AM, Chuah CT, Juan WC, Ko TK, Teo AS, Ariyaratne PN,
            Takahashi N, Sawada K, Fei Y, Soh S, Lee WH, Huang JW, Allen JC Jr,
            Woo XY, Nagarajan N, Kumar V, Thalamuthu A, Poh WT, Ang AL, Mya HT,
            How GF, Yang LY, Koh LP, Chowbay B, Chang CT, Nadarajan VS, Chng
            WJ, Than H, Lim LC, Goh YT, Zhang S, Poh D, Tan P, Seet JE, Ang MK,
            Chau NM, Ng QS, Tan DS, Soda M, Isobe K, Nothen MM, Wong TY, Shahab
            A, Ruan X, Cacheux-Rataboul V, Sung WK, Tan EH, Yatabe Y, Mano H,
            Soo RA, Chin TM, Lim WT, Ruan Y and Ong ST.
  TITLE     A common BIM deletion polymorphism mediates intrinsic resistance
            and inferior responses to tyrosine kinase inhibitors in cancer
  JOURNAL   Nat Med 18 (4), 521-528 (2012)
   PUBMED   22426421
  REMARK    GeneRIF: the heterogeneity of tyrosine kinase inhibitors responses
            across individuals and suggest the possibility of personalizing
            therapy with BH3 mimetics to overcome BIM-polymorphism-associated
            tyrosine kinase inhibitors resistance.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 45)
  AUTHORS   Huang DC, Adams JM and Cory S.
  TITLE     The conserved N-terminal BH4 domain of Bcl-2 homologues is
            essential for inhibition of apoptosis and interaction with CED-4
  JOURNAL   EMBO J 17 (4), 1029-1039 (1998)
   PUBMED   9463381
REFERENCE   8  (residues 1 to 45)
  AUTHORS   O'Connor L, Strasser A, O'Reilly LA, Hausmann G, Adams JM, Cory S
            and Huang DC.
  TITLE     Bim: a novel member of the Bcl-2 family that promotes apoptosis
  JOURNAL   EMBO J 17 (2), 384-395 (1998)
   PUBMED   9430630
REFERENCE   9  (residues 1 to 45)
  AUTHORS   Zha J, Harada H, Yang E, Jockel J and Korsmeyer SJ.
  TITLE     Serine phosphorylation of death agonist BAD in response to survival
            factor results in binding to 14-3-3 not BCL-X(L)
  JOURNAL   Cell 87 (4), 619-628 (1996)
   PUBMED   8929531
REFERENCE   10 (residues 1 to 45)
  AUTHORS   Wang K, Yin XM, Chao DT, Milliman CL and Korsmeyer SJ.
  TITLE     BID: a novel BH3 domain-only death agonist
  JOURNAL   Genes Dev 10 (22), 2859-2869 (1996)
   PUBMED   8918887
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC096670.1, AK290377.1,
            AB071200.1 and AI268146.1.
            
            Summary: The protein encoded by this gene belongs to the BCL-2
            protein family. BCL-2 family members form hetero- or homodimers and
            act as anti- or pro-apoptotic regulators that are involved in a
            wide variety of cellular activities. The protein encoded by this
            gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to
            interact with other members of the BCL-2 protein family and to act
            as an apoptotic activator. The expression of this gene can be
            induced by nerve growth factor (NGF), as well as by the forkhead
            transcription factor FKHR-L1, which suggests a role of this gene in
            neuronal and lymphocyte apoptosis. Transgenic studies of the mouse
            counterpart suggested that this gene functions as an essential
            initiator of apoptosis in thymocyte-negative selection. Several
            alternatively spliced transcript variants of this gene have been
            identified. [provided by RefSeq, Jun 2013].
            
            Transcript Variant: This variant (8, also known as Bim-A and
            Bim-beta4) uses an alternate splice site in the 5' coding region,
            and lacks an exon in the 3' coding region which results in a
            frameshift, compared to variant 1. The resulting isoform (8) is
            shorter and has a distinct C-terminus, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AB071200.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1965299, SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..45
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q13"
     Protein         1..45
                     /product="bcl-2-like protein 11 isoform 8"
                     /note="bcl-2 interacting protein Bim; bcl-2 interacting
                     mediator of cell death; bcl-2-related ovarian death
                     agonist; BCL2-like 11 (apoptosis facilitator)"
                     /calculated_mol_wt=4832
     Region          4..40
                     /region_name="Bim_N"
                     /note="Bim protein N-terminus; pfam06773"
                     /db_xref="CDD:429111"
     CDS             1..45
                     /gene="BCL2L11"
                     /gene_synonym="BAM; BIM; BOD"
                     /coded_by="NM_138627.4:289..426"
                     /note="isoform 8 is encoded by transcript variant 8"
                     /db_xref="GeneID:10018"
                     /db_xref="HGNC:HGNC:994"
                     /db_xref="MIM:603827"
ORIGIN      
        1 makqpsdvss ecdregrqlq paerppqlrp gaptslqtep qgife
//
LOCUS       NP_001165335             406 aa            linear   PRI 25-DEC-2022
DEFINITION  tubulin alpha chain-like 3 isoform 2 [Homo sapiens].
ACCESSION   NP_001165335
VERSION     NP_001165335.1
DBSOURCE    REFSEQ: accession NM_001171864.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 406)
  AUTHORS   Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G,
            Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK,
            Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek
            WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT,
            McManus R, van Heel DA and Wijmenga C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA890426.1, BC098247.1, AL683826.14 and AK025318.1.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the coding region, compared to variant 1. This
            results in a shorter protein (isoform 2), compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296616.1, BC098247.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153932 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..406
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p15.1"
     Protein         1..406
                     /product="tubulin alpha chain-like 3 isoform 2"
                     /note="tubulin alpha chain-like 3"
                     /calculated_mol_wt=45387
     Region          13..402
                     /region_name="alpha_tubulin"
                     /note="The alpha-tubulin family; cd02186"
                     /db_xref="CDD:276955"
     Site            order(39..40,67..69,72,148,150,191)
                     /site_type="other"
                     /note="alpha/beta domain interface [polypeptide binding]"
                     /db_xref="CDD:276955"
     Site            order(166,220..221,223..225,227..228,293,319)
                     /site_type="other"
                     /note="beta/alpha domain interface [polypeptide binding]"
                     /db_xref="CDD:276955"
     CDS             1..406
                     /gene="TUBAL3"
                     /coded_by="NM_001171864.2:37..1257"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS53491.1"
                     /db_xref="GeneID:79861"
                     /db_xref="HGNC:HGNC:23534"
ORIGIN      
        1 mdqlenakme htnasfdtff cetragkhvp ralfvdlept vidgirtgqh rslfhpeqll
       61 sgkedaanny argrysvgse vidlvlertr klaeqcgglq gflifrsfgg gtgsgftsll
      121 merltgeysr ktklefsvyp apristavve pynsvltths ttehtdctfm vdneavydic
      181 hrklgvecps hasinrlvvq vvssitaslr fegplnvdli efqtnlvpyp rihfpmtafa
      241 pivsadkayh eqfsvsditt acfessnqlv kcdprlgkym accllyrgdv vpkevnaaia
      301 atksrhsvqf vdwcptgfkv ginnrpptvm pggdlakvhr sicmlsntta iveawarldh
      361 kfdlmyakra flhwylregm eeaefleare dlaalerdye evaqsf
//
LOCUS       NP_006043                297 aa            linear   PRI 25-DEC-2022
DEFINITION  vacuolar protein sorting-associated protein 26C isoform 1 [Homo
            sapiens].
ACCESSION   NP_006043
VERSION     NP_006043.1
DBSOURCE    REFSEQ: accession NM_006052.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 297)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 297)
  AUTHORS   Beetz C, Ameziane N, Kdissa A, Karageorgou V, Bauer P, Suleiman J,
            Sutton VR and El-Hattab AW.
  TITLE     VPS26C homozygous nonsense variant in two cousins with
            neurodevelopmental deficits, growth failure, skeletal
            abnormalities, and distinctive facial features
  JOURNAL   Clin Genet 97 (4), 644-648 (2020)
   PUBMED   31845315
  REMARK    GeneRIF: VPS26C homozygous nonsense variant in two cousins with
            neurodevelopmental deficits, growth failure, skeletal
            abnormalities, and distinctive facial features.
REFERENCE   3  (residues 1 to 297)
  AUTHORS   Jha SG, Larson ER, Humble J, Domozych DS, Barrington DS and Tierney
            ML.
  TITLE     Vacuolar Protein Sorting 26C encodes an evolutionarily conserved
            large retromer subunit in eukaryotes that is important for root
            hair growth in Arabidopsis thaliana
  JOURNAL   Plant J 94 (4), 595-611 (2018)
   PUBMED   29495075
  REMARK    GeneRIF: These studies illustrate that GFP-HsDSCR3 is able to
            complement the vps26c root hair phenotype in Arabidopsis,
            indicating a deep conservation of cellular function for this large
            retromer subunit across plant and animal kingdoms.
REFERENCE   4  (residues 1 to 297)
  AUTHORS   McNally KE, Faulkner R, Steinberg F, Gallon M, Ghai R, Pim D,
            Langton P, Pearson N, Danson CM, Nagele H, Morris LL, Singla A,
            Overlee BL, Heesom KJ, Sessions R, Banks L, Collins BM, Berger I,
            Billadeau DD, Burstein E and Cullen PJ.
  TITLE     Retriever is a multiprotein complex for retromer-independent
            endosomal cargo recycling
  JOURNAL   Nat Cell Biol 19 (10), 1214-1225 (2017)
   PUBMED   28892079
  REMARK    GeneRIF: Heterotrimer composed of DSCR3, C16orf62 and VPS29
            orchestrates endosomal cargo retrieval and recycling.
REFERENCE   5  (residues 1 to 297)
  AUTHORS   Koumandou VL, Klute MJ, Herman EK, Nunez-Miguel R, Dacks JB and
            Field MC.
  TITLE     Evolutionary reconstruction of the retromer complex and its
            function in Trypanosoma brucei
  JOURNAL   J Cell Sci 124 (Pt 9), 1496-1509 (2011)
   PUBMED   21502137
REFERENCE   6  (residues 1 to 297)
  AUTHORS   Aubry L, Guetta D and Klein G.
  TITLE     The arrestin fold: variations on a theme
  JOURNAL   Curr Genomics 10 (2), 133-142 (2009)
   PUBMED   19794886
REFERENCE   7  (residues 1 to 297)
  AUTHORS   Hu YH, Warnatz HJ, Vanhecke D, Wagner F, Fiebitz A, Thamm S, Kahlem
            P, Lehrach H, Yaspo ML and Janitz M.
  TITLE     Cell array-based intracellular localization screening reveals novel
            functional features of human chromosome 21 proteins
  JOURNAL   BMC Genomics 7, 155 (2006)
   PUBMED   16780588
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 297)
  AUTHORS   Dahmane N, Ghezala GA, Gosset P, Chamoun Z, Dufresne-Zacharia MC,
            Lopes C, Rabatel N, Gassanova-Maugenre S, Chettouh Z, Abramowski V,
            Fayet E, Yaspo ML, Korn B, Blouin JL, Lehrach H, Poutska A,
            Antonarakis SE, Sinet PM, Creau N and Delabar JM.
  TITLE     Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21
            involved in Down syndrome
  JOURNAL   Genomics 48 (1), 12-23 (1998)
   PUBMED   9503011
REFERENCE   9  (residues 1 to 297)
  AUTHORS   Nakamura A, Hattori M and Sakaki Y.
  TITLE     Isolation of a novel human gene from the Down syndrome critical
            region of chromosome 21q22.2
  JOURNAL   J Biochem 122 (4), 872-877 (1997)
   PUBMED   9399594
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001412.2 and AP001432.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The region of chromosome 21 between genes CBR and ERG
            (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined
            by analysis of patients with partial trisomy 21. It contributes
            significantly to the pathogenesis of many characteristics of Down
            syndrome, including morphological features, hypotonia, and
            cognitive disability. The DSCR3 (Down syndrome critical region gene
            3) gene is found in this region and is predictated to contain eight
            exons. DSCR3 is expressed in most tissues examined. [provided by
            RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.892867.1,
                                           SRR1660807.239745.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309117.11/ ENSP00000311399.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..297
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.13"
     Protein         1..297
                     /product="vacuolar protein sorting-associated protein 26C
                     isoform 1"
                     /note="Down syndrome critical region protein A; Down
                     syndrome critical region protein 3; Down syndrome critical
                     region gene 3; Down syndrome critical region 3; DSCR3
                     arrestin fold containing; vacuolar protein
                     sorting-associated protein 26C"
                     /calculated_mol_wt=32879
     Region          1..283
                     /region_name="Arrestin_N"
                     /note="Arrestin (or S-antigen), N-terminal domain;
                     cl22903"
                     /db_xref="CDD:451447"
     CDS             1..297
                     /gene="VPS26C"
                     /gene_synonym="DCRA; DSCR3; DSCRA"
                     /coded_by="NM_006052.2:41..934"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS33553.1"
                     /db_xref="GeneID:10311"
                     /db_xref="HGNC:HGNC:3044"
                     /db_xref="MIM:605298"
ORIGIN      
        1 mgtaldikik rankvyhage vlsgvvviss kdsvqhqgvs ltmegtvnlq lsaksvgvfe
       61 afynsvkpiq iinstiemvk pgkfpsgkte ipfefplhlk gnkvlyetyh gvfvniqytl
      121 rcdmkrslla kdltktcefi vhsapqkgkf tpspvdftit petlqnvker allpkfllrg
      181 hlnstncvit qpltgelvve sseaairsve lqlvrvetcg caegyardat eiqniqiadg
      241 dvcrglsvpi ymvfprlftc ptlettnfkv efevnivvll hpdhlitenf plklcri
//
LOCUS       NP_001338925             179 aa            linear   PRI 26-DEC-2022
DEFINITION  nmrA-like family domain-containing protein 1 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001338925
VERSION     NP_001338925.1
DBSOURCE    REFSEQ: accession NM_001351996.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 179)
  AUTHORS   Wang J, Li S, Li X, Liu J, Yang J, Li Y, Li W, Yang Y, Li J, Chen
            R, Li K, Huang D, Liu Y, Lv L, Li M, Xiao X and Luo XJ.
  TITLE     Functional variant rs2270363 on 16p13.3 confers schizophrenia risk
            by regulating NMRAL1
  JOURNAL   Brain 145 (7), 2569-2585 (2022)
   PUBMED   35094059
  REMARK    GeneRIF: Functional variant rs2270363 on 16p13.3 confers
            schizophrenia risk by regulating NMRAL1.
REFERENCE   2  (residues 1 to 179)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 179)
  AUTHORS   Zang W, Yang C, Li T, Liao L and Zheng X.
  TITLE     Cellular redox sensor HSCARG negatively regulates the translesion
            synthesis pathway and exacerbates mammary tumorigenesis
  JOURNAL   Proc Natl Acad Sci U S A 116 (51), 25624-25633 (2019)
   PUBMED   31796584
  REMARK    GeneRIF: Investigated the role of NmrA like redox sensor 1
            (HSCARG), a cellular redox sensor. Demonstrated how HSCARG
            interacts with proliferating cell nuclear antigen (PCNA) in the
            translesion synthesis pathway, and showed that HSCARG, which is
            highly expressed in breast carcinoma, promotes accumulation of
            double stranded breaks and mutations.
REFERENCE   4  (residues 1 to 179)
  AUTHORS   Wu YH, Chiu DT, Lin HR, Tang HY, Cheng ML and Ho HY.
  TITLE     Glucose-6-Phosphate Dehydrogenase Enhances Antiviral Response
            through Downregulation of NADPH Sensor HSCARG and Upregulation of
            NF-kappaB Signaling
  JOURNAL   Viruses 7 (12), 6689-6706 (2015)
   PUBMED   26694452
  REMARK    GeneRIF: These findings suggest that the increased susceptibility
            of the G6PD-knockdown cells to viral infection was due to impaired
            NF-kappaB signaling and antiviral response mediated by HSCARG.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 179)
  AUTHORS   Li T, Guan J, Li S, Zhang X and Zheng X.
  TITLE     HSCARG downregulates NF-kappaB signaling by interacting with USP7
            and inhibiting NEMO ubiquitination
  JOURNAL   Cell Death Dis 5 (5), e1229 (2014)
   PUBMED   24832601
  REMARK    GeneRIF: Data indicate that HSCARG and USP7 function in concert in
            inhibiting polyubiquination of NEMO, thus inhibiting NF-kappaB
            activity.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 179)
  AUTHORS   Dai X, Li Y, Meng G, Yao S, Zhao Y, Yu Q, Zhang J, Luo M and Zheng
            X.
  TITLE     NADPH is an allosteric regulator of HSCARG
  JOURNAL   J Mol Biol 387 (5), 1277-1285 (2009)
   PUBMED   19254724
  REMARK    GeneRIF: In response to the changes in the NADPH/NADP(+) ratio
            within cells, HSCARG, as a redox sensor, associates and dissociates
            with NADPH to form a new dynamic equilibrium.
REFERENCE   7  (residues 1 to 179)
  AUTHORS   Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD,
            Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser
            E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J and
            Oppermann U.
  TITLE     The SDR (short-chain dehydrogenase/reductase and related enzymes)
            nomenclature initiative
  JOURNAL   Chem Biol Interact 178 (1-3), 94-98 (2009)
   PUBMED   19027726
REFERENCE   8  (residues 1 to 179)
  AUTHORS   Zhao Y, Zhang J, Li H, Li Y, Ren J, Luo M and Zheng X.
  TITLE     An NADPH sensor protein (HSCARG) down-regulates nitric oxide
            synthesis by association with argininosuccinate synthetase and is
            essential for epithelial cell viability
  JOURNAL   J Biol Chem 283 (16), 11004-11013 (2008)
   PUBMED   18263583
  REMARK    GeneRIF: HSCARG regulation of argininosuccinate synthetase activity
            is crucial for maintaining the intracellular balance between redox
            state and nitric oxide levels
REFERENCE   9  (residues 1 to 179)
  AUTHORS   Zheng X, Dai X, Zhao Y, Chen Q, Lu F, Yao D, Yu Q, Liu X, Zhang C,
            Gu X and Luo M.
  TITLE     Restructuring of the dinucleotide-binding fold in an NADP(H) sensor
            protein
  JOURNAL   Proc Natl Acad Sci U S A 104 (21), 8809-8814 (2007)
   PUBMED   17496144
  REMARK    GeneRIF: One of the functions regulated by HSCARG may be
            argininosuccinate synthetase that is involved in NO synthesis
REFERENCE   10 (residues 1 to 179)
  AUTHORS   Dai X, Gu X, Luo M and Zheng X.
  TITLE     Protein expression, crystallization and preliminary X-ray
            crystallographic studies on HSCARG from Homo sapiens
  JOURNAL   Protein Pept Lett 13 (9), 955-957 (2006)
   PUBMED   17100653
  REMARK    GeneRIF: expression, crystallization and preliminary X-ray
            crystallographic studies of HSCARG at a resolution of 2.4 A;
            crystals belong to F23 space group, with unit cell parameters
            a=b=c=223.30A, alpha=beta=gamma=90 degrees
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007606.8 and AC012676.5.
            
            Summary: This gene encodes an NADPH sensor protein that
            preferentially binds to NADPH. The encoded protein also negatively
            regulates the activity of NF-kappaB in a ubiquitylation-dependent
            manner. It plays a key role in cellular antiviral response by
            negatively regulating the interferon response factor 3-mediated
            expression of interferon beta. Alternative splicing of this gene
            results in multiple transcript variants. [provided by RefSeq, Feb
            2015].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.414417.1,
                                           SRR1163657.406552.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..179
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..179
                     /product="nmrA-like family domain-containing protein 1
                     isoform 3"
                     /note="short chain dehydrogenase/reductase family 48A,
                     member 1; nmrA-like family domain-containing protein 1;
                     NmrA-like family domain containing 1; epididymis secretory
                     sperm binding protein"
                     /calculated_mol_wt=19664
     Region          7..>175
                     /region_name="NmrA_like_SDR_a"
                     /note="NmrA (a transcriptional regulator) and HSCARG (an
                     NADPH sensor) like proteins, atypical (a) SDRs; cd05251"
                     /db_xref="CDD:187561"
     Site            order(11,13..16,37,79..80,82,114,133,152..155,158)
                     /site_type="other"
                     /note="NADP binding site [chemical binding]"
                     /db_xref="CDD:187561"
     Site            order(129,133)
                     /site_type="active"
                     /db_xref="CDD:187561"
     CDS             1..179
                     /gene="NMRAL1"
                     /gene_synonym="HSCARG; SDR48A1"
                     /coded_by="NM_001351996.2:251..790"
                     /note="isoform 3 is encoded by transcript variant 6"
                     /db_xref="GeneID:57407"
                     /db_xref="HGNC:HGNC:24987"
                     /db_xref="MIM:620004"
ORIGIN      
        1 mvdkklvvvf ggtgaqggsv artlledgtf kvrvvtrnpr kkaakelrlq gaevvqgdqd
       61 dqvimelaln gayatfivtn ywescsqeqe vkqgklladl arrlglhyvv ysglenikkl
      121 tagrlaaahf dgkgeveeyf rdigvpmtsv rlpcyfenll shflpqkapd gksyllnds
//
LOCUS       NP_443163                331 aa            linear   PRI 26-DEC-2022
DEFINITION  SLAM family member 6 isoform 2 precursor [Homo sapiens].
ACCESSION   NP_443163
VERSION     NP_443163.1
DBSOURCE    REFSEQ: accession NM_052931.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 331)
  AUTHORS   Xia G, Li Y, Pan W, Qian C, Ma L, Zhou J, Xu H and Cheng C.
  TITLE     SLAMF6 is associated with the susceptibility and severity of
            rheumatoid arthritis in the Chinese population
  JOURNAL   J Orthop Surg Res 17 (1), 13 (2022)
   PUBMED   35016729
  REMARK    GeneRIF: SLAMF6 is associated with the susceptibility and severity
            of rheumatoid arthritis in the Chinese population.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 331)
  AUTHORS   Liu B, Zeng L, Shao Y and Fu R.
  TITLE     Expression and function of SLAMF6 in CD8+ T lymphocytes of patients
            with severe aplastic anemia
  JOURNAL   Cell Immunol 364, 104343 (2021)
   PUBMED   33774556
  REMARK    GeneRIF: Expression and function of SLAMF6 in CD8(+) T lymphocytes
            of patients with severe aplastic anemia.
REFERENCE   3  (residues 1 to 331)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 331)
  AUTHORS   Dragovich MA, Adam K, Strazza M, Tocheva AS, Peled M and Mor A.
  TITLE     SLAMF6 clustering is required to augment T cell activation
  JOURNAL   PLoS One 14 (6), e0218109 (2019)
   PUBMED   31199820
  REMARK    GeneRIF: SLAMF6 is an important regulator of T cell activation
            where both its ectodomain and its endodomain contribute
            differentially to T cell functions.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 331)
  AUTHORS   Dragovich MA and Mor A.
  TITLE     The SLAM family receptors: Potential therapeutic targets for
            inflammatory and autoimmune diseases
  JOURNAL   Autoimmun Rev 17 (7), 674-682 (2018)
   PUBMED   29729453
  REMARK    Review article
REFERENCE   6  (residues 1 to 331)
  AUTHORS   Fraser CC, Howie D, Morra M, Qiu Y, Murphy C, Shen Q,
            Gutierrez-Ramos JC, Coyle A, Kingsbury GA and Terhorst C.
  TITLE     Identification and characterization of SF2000 and SF2001, two new
            members of the immune receptor SLAM/CD2 family
  JOURNAL   Immunogenetics 53 (10-11), 843-850 (2002)
   PUBMED   11862385
REFERENCE   7  (residues 1 to 331)
  AUTHORS   Bottino C, Falco M, Parolini S, Marcenaro E, Augugliaro R, Sivori
            S, Landi E, Biassoni R, Notarangelo LD, Moretta L and Moretta A.
  TITLE     NTB-A [correction of GNTB-A], a novel SH2D1A-associated surface
            molecule contributing to the inability of natural killer cells to
            kill Epstein-Barr virus-infected B cells in X-linked
            lymphoproliferative disease
  JOURNAL   J Exp Med 194 (3), 235-246 (2001)
   PUBMED   11489943
  REMARK    Erratum:[J Exp Med 2001 Sep 3;194(5):following 703]
REFERENCE   8  (residues 1 to 331)
  AUTHORS   Lee YJ, Luisiri P and Clark MR.
  TITLE     A novel complex, p40/42, is constitutively associated with the B
            cell antigen receptor and phosphorylated upon receptor stimulation
  JOURNAL   J Immunol 157 (9), 3828-3837 (1996)
   PUBMED   8892612
REFERENCE   9  (residues 1 to 331)
  AUTHORS   Kong G, Dalton M, Bubeck Wardenburg J, Straus D, Kurosaki T and
            Chan AC.
  TITLE     Distinct tyrosine phosphorylation sites in ZAP-70 mediate
            activation and negative regulation of antigen receptor function
  JOURNAL   Mol Cell Biol 16 (9), 5026-5035 (1996)
   PUBMED   8756661
REFERENCE   10 (residues 1 to 331)
  AUTHORS   Hercend,T., Meuer,S., Brennan,A., Edson,M.A., Acuto,O.,
            Reinherz,E.L., Schlossman,S.F. and Ritz,J.
  TITLE     Natural killer-like function of activated T lymphocytes:
            differential blocking effects of monoclonal antibodies specific for
            a 90-kDa clonotypic structure
  JOURNAL   Cell Immunol 86 (2), 381-392 (1984)
   PUBMED   6610481
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB197632.1, BC113893.1 and
            AK125624.1.
            
            Summary: The protein encoded by this gene is a type I transmembrane
            protein, belonging to the CD2 subfamily of the immunoglobulin
            superfamily. This encoded protein is expressed on Natural killer
            (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation
            and associates with the Src homology 2 domain-containing protein
            (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs).
            It functions as a coreceptor in the process of NK cell activation.
            It can also mediate inhibitory signals in NK cells from X-linked
            lymphoproliferative patients. Alternative splicing results in
            multiple transcript variants encoding distinct isoforms.[provided
            by RefSeq, May 2010].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' coding region, compared to variant 1, which results in an
            isoform (2) that is one amino acid shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK125624.1, AJ277141.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2-q23.3"
     Protein         1..331
                     /product="SLAM family member 6 isoform 2 precursor"
                     /note="activating NK receptor; natural killer-, T- and
                     B-cell antigen; NTBA receptor; NK-T-B-antigen"
                     /calculated_mol_wt=34888
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2405
     mat_peptide     22..331
                     /product="SLAM family member 6 isoform 2"
                     /calculated_mol_wt=34888
     Region          29..126
                     /region_name="Ig_SLAM-like_N"
                     /note="N-terminal immunoglobulin (Ig)-like domain of the
                     signaling lymphocyte activation molecule (SLAM) family;
                     cd16842"
                     /db_xref="CDD:409517"
     Region          29..33
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409517"
     Region          36..42
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409517"
     Site            order(52,54,108,110,112)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:409517"
     Site            58
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96DU3.3)"
     Region          61..66
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409517"
     Region          73..78
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409517"
     Region          85..90
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409517"
     Site            87
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96DU3.3)"
     Region          92..97
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409517"
     Region          105..112
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409517"
     Region          117..126
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409517"
     Site            137
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96DU3.3)"
     Site            144
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96DU3.3)"
     Region          <149..207
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          149..153
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Site            161
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96DU3.3)"
     Region          163..167
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            178
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (Q96DU3.3)"
     Region          188..191
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          192..197
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            203
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96DU3.3)"
     Site            227..247
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96DU3.3)"
     Site            273
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q96DU3.3)"
     Site            277
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q96DU3.3)"
     Region          282..287
                     /region_name="ITSM 1.
                     /evidence=ECO:0000250|UniProtKB:Q13291"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96DU3.3)"
     Region          306..311
                     /region_name="ITSM 2.
                     /evidence=ECO:0000250|UniProtKB:Q13291"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96DU3.3)"
     Site            308
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q96DU3.3)"
     CDS             1..331
                     /gene="SLAMF6"
                     /gene_synonym="CD352; KALI; KALIb; Ly108; NTB-A; NTBA;
                     SF2000"
                     /coded_by="NM_052931.5:64..1059"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS1205.1"
                     /db_xref="GeneID:114836"
                     /db_xref="HGNC:HGNC:21392"
                     /db_xref="MIM:606446"
ORIGIN      
        1 mlwlfqsllf vfcfgpgnvv sqssltplmv ngilgesvtl plefpagekv nfitwlfnet
       61 slafivphet kspeihvtnp kqgkrlnftq syslqlsnlk medtgsyraq istktsakls
      121 sytlrilrql rniqvtnhsq lfqnmtcelh ltcsvedadd nvsfrwealg ntlssqpnlt
      181 vswdprisse qdytciaena vsnlsfsvsa qklcedvkiq ytdtkmilfm vsgicivfgf
      241 iillllvlrk rrdslslstq rtqgpesarn leyvsvsptn ntvyasvths nreteiwtpr
      301 endtitiyst inhskeskpt fsrataldnv v
//
LOCUS       NP_001269925             671 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger protein 133 isoform b [Homo sapiens].
ACCESSION   NP_001269925
VERSION     NP_001269925.2
DBSOURCE    REFSEQ: accession NM_001282996.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 671)
  AUTHORS   Jung ES, Choi KW, Kim SW, Hubenthal M, Mucha S, Park J, Park Z,
            Ellinghaus D, Schreiber S, Franke A, Oh WY and Cheon JH.
  TITLE     ZNF133 is associated with infliximab responsiveness in patients
            with inflammatory bowel diseases
  JOURNAL   J Gastroenterol Hepatol 34 (10), 1727-1735 (2019)
   PUBMED   30851117
  REMARK    GeneRIF: ZNF133 SNPs are associated with infliximab responsiveness
            in patients crohn's disease and ulcerative colitis.
REFERENCE   2  (residues 1 to 671)
  AUTHORS   Miyamoto-Sato E, Fujimori S, Ishizaka M, Hirai N, Masuoka K, Saito
            R, Ozawa Y, Hino K, Washio T, Tomita M, Yamashita T, Oshikubo T,
            Akasaka H, Sugiyama J, Matsumoto Y and Yanagawa H.
  TITLE     A comprehensive resource of interacting protein regions for
            refining human transcription factor networks
  JOURNAL   PLoS One 5 (2), e9289 (2010)
   PUBMED   20195357
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 671)
  AUTHORS   Lee SJ, Lee JR, Hahn HS, Kim YH, Ahn JH, Bae CD, Yang JM and Hahn
            MJ.
  TITLE     PIAS1 interacts with the KRAB zinc finger protein, ZNF133, via zinc
            finger motifs and regulates its transcriptional activity
  JOURNAL   Exp Mol Med 39 (4), 450-457 (2007)
   PUBMED   17934332
  REMARK    GeneRIF: the transcriptional repressor activity of ZNF133 is
            regulated by both the KRAB domain and the zinc finger motifs, and
            that the repressive effect by zinc finger motifs is mediated by
            PIAS1
REFERENCE   4  (residues 1 to 671)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   5  (residues 1 to 671)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   6  (residues 1 to 671)
  AUTHORS   Moosmann P, Georgiev O, Thiesen HJ, Hagmann M and Schaffner W.
  TITLE     Silencing of RNA polymerases II and III-dependent transcription by
            the KRAB protein domain of KOX1, a Kruppel-type zinc finger factor
  JOURNAL   Biol Chem 378 (7), 669-677 (1997)
   PUBMED   9278146
REFERENCE   7  (residues 1 to 671)
  AUTHORS   Vissing H, Meyer WK, Aagaard L, Tommerup N and Thiesen HJ.
  TITLE     Repression of transcriptional activity by heterologous KRAB domains
            present in zinc finger proteins
  JOURNAL   FEBS Lett 369 (2-3), 153-157 (1995)
   PUBMED   7649249
REFERENCE   8  (residues 1 to 671)
  AUTHORS   Tommerup N and Vissing H.
  TITLE     Isolation and fine mapping of 16 novel human zinc finger-encoding
            cDNAs identify putative candidate genes for developmental and
            malignant disorders
  JOURNAL   Genomics 27 (2), 259-264 (1995)
   PUBMED   7557990
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL049646.19.
            On Jun 2, 2019 this sequence version replaced NP_001269925.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BM857132.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..671
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.23"
     Protein         1..671
                     /product="zinc finger protein 133 isoform b"
                     /note="zinc finger protein 133 (clone pHZ-13); zinc finger
                     protein 150 (pHZ-66)"
                     /calculated_mol_wt=75272
     Region          4..63
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          232..641
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          233..253
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          261..281
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          289..309
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(294,296,298,300..301,304..305,308,322,324,328..329,
                     332..333,336,350,352,354,356..357,360..361,364)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          317..337
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          345..365
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          373..393
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          401..421
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          429..449
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(434,436,438,440..441,444..445,448,462,464,468..469,
                     472..473,476,490,492,494,496..497,500..501,504)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          457..477
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          485..505
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          513..533
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          541..561
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          569..589
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          597..617
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          625..644
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..671
                     /gene="ZNF133"
                     /gene_synonym="pHZ-13; pHZ-66; ZNF150"
                     /coded_by="NM_001282996.3:154..2169"
                     /note="isoform b is encoded by transcript variant 4"
                     /db_xref="GeneID:7692"
                     /db_xref="HGNC:HGNC:12917"
                     /db_xref="MIM:604075"
ORIGIN      
        1 mahmafrdva vdftqdewrl lspaqrtlyr evmlenysnl vslgisfskp elitqleqgk
       61 etwreekkcs patcpdhqey gnncdlqkea dpepelyldp fcppgfssqk fpmqhvlcnh
      121 ppwiftclca egniqpgdpg pgdqekqqqa segrpwsdqa egpegegamp lfgrtkkrtl
      181 gafsrppqrq pvssrnglrg veleaspaqs gnpeetdkll krievlgfgt vncgecglsf
      241 skmtnllshq rihsgekpyv cgvcekgfsl kkslarhqka hsgekpivcr ecgrgfnrks
      301 tliiherths gekpymcsec grgfsqksnl iihqrthsge kpyvcrecgk gfsqksavvr
      361 hqrthleekt ivcsdcglgf sdrsnlishq rthsgekpya ckecgrcfrq rttlvnhqrt
      421 hskekpyvcg vcghsfsqns tlishrrtht gekpyvcgvc grgfslkshl nrhqnihsge
      481 kpivckdcgr gfsqqsnlir hqrthsgekp mvcgecgrgf sqksnlvahq rthsgerpyv
      541 crecgrgfsh qaglirhkrk hsrekpymcr qcglgfgnks alithkrahs eekpcvcrec
      601 gqgflqkshl tlhqmthtge kpyvcktcgr gfslkshlsr hrkttsvhhr lpvqpdpepc
      661 agqpsdslys l
//
LOCUS       NP_001284352             422 aa            linear   PRI 27-DEC-2022
DEFINITION  endosomal/lysosomal proton channel TMEM175 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001284352 XP_005272359
VERSION     NP_001284352.1
DBSOURCE    REFSEQ: accession NM_001297423.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 422)
  AUTHORS   Hu M, Li P, Wang C, Feng X, Geng Q, Chen W, Marthi M, Zhang W, Gao
            C, Reid W, Swanson J, Du W, Hume RI and Xu H.
  TITLE     Parkinson's disease-risk protein TMEM175 is a proton-activated
            proton channel in lysosomes
  JOURNAL   Cell 185 (13), 2292-2308 (2022)
   PUBMED   35750034
REFERENCE   2  (residues 1 to 422)
  AUTHORS   Zheng W, Shen C, Wang L, Rawson S, Xie WJ, Nist-Lund C, Wu J, Shen
            Z, Xia S, Holt JR, Wu H and Fu TM.
  TITLE     pH regulates potassium conductance and drives a constitutive proton
            current in human TMEM175
  JOURNAL   Sci Adv 8 (12), eabm1568 (2022)
   PUBMED   35333573
REFERENCE   3  (residues 1 to 422)
  AUTHORS   Wie J, Liu Z, Song H, Tropea TF, Yang L, Wang H, Liang Y, Cang C,
            Aranda K, Lohmann J, Yang J, Lu B, Chen-Plotkin AS, Luk KC and Ren
            D.
  TITLE     A growth-factor-activated lysosomal K+ channel regulates
            Parkinson's pathology
  JOURNAL   Nature 591 (7850), 431-437 (2021)
   PUBMED   33505021
  REMARK    GeneRIF: A growth-factor-activated lysosomal K(+) channel regulates
            Parkinson's pathology.
            Erratum:[Nature. 2021 Apr;592(7855):E10. PMID: 33790472]
REFERENCE   4  (residues 1 to 422)
  AUTHORS   Oh S, Paknejad N and Hite RK.
  TITLE     Gating and selectivity mechanisms for the lysosomal K+ channel
            TMEM175
  JOURNAL   Elife 9, e53430 (2020)
   PUBMED   32228865
  REMARK    GeneRIF: Gating and selectivity mechanisms for the lysosomal K(+)
            channel TMEM175.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 422)
  AUTHORS   Krohn L, Ozturk TN, Vanderperre B, Ouled Amar Bencheikh B, Ruskey
            JA, Laurent SB, Spiegelman D, Postuma RB, Arnulf I, Hu MTM,
            Dauvilliers Y, Hogl B, Stefani A, Monaca CC, Plazzi G, Antelmi E,
            Ferini-Strambi L, Heidbreder A, Rudakou U, Cochen De Cock V, Young
            P, Wolf P, Oliva P, Zhang XK, Greenbaum L, Liong C, Gagnon JF,
            Desautels A, Hassin-Baer S, Montplaisir JY, Dupre N, Rouleau GA,
            Fon EA, Trempe JF, Lamoureux G, Alcalay RN and Gan-Or Z.
  TITLE     Genetic, Structural, and Functional Evidence Link TMEM175 to
            Synucleinopathies
  JOURNAL   Ann Neurol 87 (1), 139-153 (2020)
   PUBMED   31658403
  REMARK    GeneRIF: Coding variants in TMEM175 are likely to be responsible
            for the association in the TMEM175/GAK/DGKQ locus, which could be
            mediated by affecting glucosylceramidase activity.
REFERENCE   6  (residues 1 to 422)
  AUTHORS   Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M,
            DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF,
            Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee
            JH, Cheng R, Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC,
            Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland
            M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA,
            Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK,
            Gasser T, Bertram L, Eriksson N, Foroud T and Singleton AB.
  CONSRTM   International Parkinson's Disease Genomics Consortium (IPDGC);
            Parkinson's Study Group (PSG) Parkinson's Research: The Organized
            GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics
            Research Consortium (NGRC); Hussman Institute of Human Genomics
            (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health
            and Aging Research in Genetic Epidemiology (CHARGE); North American
            Brain Expression Consortium (NABEC); United Kingdom Brain
            Expression Consortium (UKBEC); Greek Parkinson's Disease
            Consortium; Alzheimer Genetic Analysis Group
  TITLE     Large-scale meta-analysis of genome-wide association data
            identifies six new risk loci for Parkinson's disease
  JOURNAL   Nat Genet 46 (9), 989-993 (2014)
   PUBMED   25064009
REFERENCE   7  (residues 1 to 422)
  AUTHORS   Ng MC, Shriner D, Chen BH, Li J, Chen WM, Guo X, Liu J, Bielinski
            SJ, Yanek LR, Nalls MA, Comeau ME, Rasmussen-Torvik LJ, Jensen RA,
            Evans DS, Sun YV, An P, Patel SR, Lu Y, Long J, Armstrong LL,
            Wagenknecht L, Yang L, Snively BM, Palmer ND, Mudgal P, Langefeld
            CD, Keene KL, Freedman BI, Mychaleckyj JC, Nayak U, Raffel LJ,
            Goodarzi MO, Chen YD, Taylor HA Jr, Correa A, Sims M, Couper D,
            Pankow JS, Boerwinkle E, Adeyemo A, Doumatey A, Chen G, Mathias RA,
            Vaidya D, Singleton AB, Zonderman AB, Igo RP Jr, Sedor JR,
            Kabagambe EK, Siscovick DS, McKnight B, Rice K, Liu Y, Hsueh WC,
            Zhao W, Bielak LF, Kraja A, Province MA, Bottinger EP, Gottesman O,
            Cai Q, Zheng W, Blot WJ, Lowe WL, Pacheco JA, Crawford DC,
            Grundberg E, Rich SS, Hayes MG, Shu XO, Loos RJ, Borecki IB, Peyser
            PA, Cummings SR, Psaty BM, Fornage M, Iyengar SK, Evans MK, Becker
            DM, Kao WH, Wilson JG, Rotter JI, Sale MM, Liu S, Rotimi CN and
            Bowden DW.
  CONSRTM   FIND Consortium; eMERGE Consortium; DIAGRAM Consortium; MuTHER
            Consortium; MEta-analysis of type 2 DIabetes in African Americans
            Consortium
  TITLE     Meta-analysis of genome-wide association studies in African
            Americans provides insights into the genetic architecture of type 2
            diabetes
  JOURNAL   PLoS Genet 10 (8), e1004517 (2014)
   PUBMED   25102180
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 422)
  AUTHORS   Do CB, Tung JY, Dorfman E, Kiefer AK, Drabant EM, Francke U,
            Mountain JL, Goldman SM, Tanner CM, Langston JW, Wojcicki A and
            Eriksson N.
  TITLE     Web-based genome-wide association study identifies two novel loci
            and a substantial genetic component for Parkinson's disease
  JOURNAL   PLoS Genet 7 (6), e1002141 (2011)
   PUBMED   21738487
REFERENCE   9  (residues 1 to 422)
  AUTHORS   Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M,
            Simon-Sanchez J, Schulte C, Lesage S, Sveinbjornsdottir S,
            Stefansson K, Martinez M, Hardy J, Heutink P, Brice A, Gasser T,
            Singleton AB and Wood NW.
  CONSRTM   International Parkinson Disease Genomics Consortium
  TITLE     Imputation of sequence variants for identification of genetic risks
            for Parkinson's disease: a meta-analysis of genome-wide association
            studies
  JOURNAL   Lancet 377 (9766), 641-649 (2011)
   PUBMED   21292315
REFERENCE   10 (residues 1 to 422)
  AUTHORS   Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H,
            Elsasser HP, Mann M and Hasilik A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA168151.1 and BC047738.1.
            On Jul 2, 2014 this sequence version replaced XP_005272359.1.
            
            Transcript Variant: This variant (2) differs in its 5' UTR and uses
            a downstream start codon, compared to variant 1. The encoded
            isoform (2) has a shorter N-terminus, compared to isoform 1.
            Variants 2, 3, and 4 encode the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC047738.1, SRR7410570.229796.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..422
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     Protein         1..422
                     /product="endosomal/lysosomal proton channel TMEM175
                     isoform 2"
                     /note="endosomal/lysomomal potassium channel TMEM175;
                     endosomal/lysosomal potassium channel TMEM175;
                     endosomal/lysosomal proton channel TMEM175"
                     /calculated_mol_wt=46431
     Region          <1..42
                     /region_name="DUF1211"
                     /note="Protein of unknown function (DUF1211); pfam06736"
                     /db_xref="CDD:429088"
     Region          178..274
                     /region_name="DUF1211"
                     /note="Protein of unknown function (DUF1211); pfam06736"
                     /db_xref="CDD:429088"
     CDS             1..422
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /coded_by="NM_001297423.2:820..2088"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS75087.1"
                     /db_xref="GeneID:84286"
                     /db_xref="HGNC:HGNC:28709"
                     /db_xref="MIM:616660"
ORIGIN      
        1 mtflivtvaw aahtrlfqvv gktddtlall nlacmmtitf lpytfslmvt fpdvplgifl
       61 fcvcviaigv vqalivgyaf hfphllspqi qrsahralyr rhvlgivlqg palcfaaaif
      121 slffvplsyl lmvtvillpy vskvtgwcrd rllghrepsa hpvevfsfdl heplskerve
      181 afsdgvyaiv atllildice dnvpdpkdvk erfsgslvaa lsatgprfla yfgsfatvgl
      241 lwfahhslfl hvrkatramg llntlslafv gglplayqqt safarqprde lervrvscti
      301 iflasifqla mwttallhqa etlqpsvwfg grehvlmfak lalypcasll afastcllsr
      361 fsvgifhlmq iavpcaflll rllvglalat lrvlrglarp ehpppaptgq ddpqsqllpa
      421 pc
//
LOCUS       NP_001287688             716 aa            linear   PRI 27-DEC-2022
DEFINITION  E3 ubiquitin-protein ligase TRIM36 isoform 5 [Homo sapiens].
ACCESSION   NP_001287688 XP_005272088
VERSION     NP_001287688.1
DBSOURCE    REFSEQ: accession NM_001300759.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 716)
  AUTHORS   Yu S, Li W, Liu X, Zhang H, Liu X and Zhang LW.
  TITLE     TRIM36 enhances lung adenocarcinoma radiosensitivity and inhibits
            tumorigenesis through promoting RAD51 ubiquitination and
            antagonizing hsa-miR-376a-5p
  JOURNAL   Biochem Biophys Res Commun 628, 1-10 (2022)
   PUBMED   36058131
  REMARK    GeneRIF: TRIM36 enhances lung adenocarcinoma radiosensitivity and
            inhibits tumorigenesis through promoting RAD51 ubiquitination and
            antagonizing hsa-miR-376a-5p.
REFERENCE   2  (residues 1 to 716)
  AUTHORS   Zhao B, Qiao G, Li J, Wang Y, Li X, Zhang H and Zhang L.
  TITLE     TRIM36 suppresses cell growth and promotes apoptosis in human
            esophageal squamous cell carcinoma cells by inhibiting
            Wnt/beta-catenin signaling pathway
  JOURNAL   Hum Cell 35 (5), 1487-1498 (2022)
   PUBMED   35768649
  REMARK    GeneRIF: TRIM36 suppresses cell growth and promotes apoptosis in
            human esophageal squamous cell carcinoma cells by inhibiting
            Wnt/beta-catenin signaling pathway.
REFERENCE   3  (residues 1 to 716)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 716)
  AUTHORS   Kimura N, Yamada Y, Takayama KI, Fujimura T, Takahashi S, Kume H
            and Inoue S.
  TITLE     Androgen-responsive tripartite motif 36 enhances tumor-suppressive
            effect by regulating apoptosis-related pathway in prostate cancer
  JOURNAL   Cancer Sci 109 (12), 3840-3852 (2018)
   PUBMED   30238687
  REMARK    GeneRIF: Results suggest that high expression of TRIM36 is
            associated with favorable prognosis and that TRIM36 plays a
            tumor-suppressive role by inhibiting cell proliferation and
            migration as well as promoting apoptosis in prostate cancer.
REFERENCE   5  (residues 1 to 716)
  AUTHORS   Liang C, Wang S, Qin C, Bao M, Cheng G, Liu B, Shao P, Lv Q, Song
            N, Hua L, Gu M, Li J and Wang Z.
  TITLE     TRIM36, a novel androgen-responsive gene, enhances anti-androgen
            efficacy against prostate cancer by inhibiting MAPK/ERK signaling
            pathways
  JOURNAL   Cell Death Dis 9 (2), 155 (2018)
   PUBMED   29449534
  REMARK    GeneRIF: TRIM36 is a novel androgen-responsive gene, and it
            dramatically enhanced the efficacy of anti-androgen drugs against
            prostate cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 716)
  AUTHORS   Ebstein F, Lange N, Urban S, Seifert U, Kruger E and Kloetzel PM.
  TITLE     Maturation of human dendritic cells is accompanied by functional
            remodelling of the ubiquitin-proteasome system
  JOURNAL   Int J Biochem Cell Biol 41 (5), 1205-1215 (2009)
   PUBMED   19028597
REFERENCE   7  (residues 1 to 716)
  AUTHORS   Miyajima N, Maruyama S, Nonomura K and Hatakeyama S.
  TITLE     TRIM36 interacts with the kinetochore protein CENP-H and delays
            cell cycle progression
  JOURNAL   Biochem Biophys Res Commun 381 (3), 383-387 (2009)
   PUBMED   19232519
  REMARK    GeneRIF: TRIM36 has a ubiquitin ligase activity and interacts with
            centromere protein-H, potentially associated with chromosome
            segregation and its excess may cause chromosomal instability.
REFERENCE   8  (residues 1 to 716)
  AUTHORS   Kitamura K, Nishimura H, Nishimune Y and Tanaka H.
  TITLE     Identification of human HAPRIN potentially involved in the acrosome
            reaction
  JOURNAL   J Androl 26 (4), 511-518 (2005)
   PUBMED   15955891
  REMARK    GeneRIF: molecular cloning and characterization of a human haprin
            ortholog.
REFERENCE   9  (residues 1 to 716)
  AUTHORS   Balint I, Muller A, Nagy A and Kovacs G.
  TITLE     Cloning and characterisation of the RBCC728/TRIM36 zinc-binding
            protein from the tumor suppressor gene region at chromosome 5q22.3
  JOURNAL   Gene 332, 45-50 (2004)
   PUBMED   15145053
  REMARK    GeneRIF: The overexpression of the TRIM36 in the vast majority of
            prostate cancer suggest that this gene might be involved in the
            prostate tumorigenesis.
REFERENCE   10 (residues 1 to 716)
  AUTHORS   Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L,
            Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci
            S, Pelicci PG and Ballabio A.
  TITLE     The tripartite motif family identifies cell compartments
  JOURNAL   EMBO J 20 (9), 2140-2151 (2001)
   PUBMED   11331580
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK296389.1, AK316422.1,
            AC094104.2 and AJ272269.1.
            On Jul 11, 2014 this sequence version replaced XP_005272088.1.
            
            Summary: The protein encoded by this gene is a member of the
            tripartite motif (TRIM) family. The TRIM motif includes three
            zinc-binding domains, a RING, a B-box type 1 and a B-box type 2,
            and a coiled-coil region. Multiple alternatively spliced transcript
            variants that encode different protein isoforms have been described
            for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (5) has an alternate 5' terminal
            exon, compared to variant 1. The resulting isoform (5) is shorter
            and has a distinct N-terminus, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296389.1, SRR11853566.22643.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000513154.6/ ENSP00000423934.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..716
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.3"
     Protein         1..716
                     /product="E3 ubiquitin-protein ligase TRIM36 isoform 5"
                     /EC_number="2.3.2.27"
                     /note="zinc-binding protein Rbcc728; tripartite motif
                     protein 36; E3 ubiquitin-protein ligase TRIM36; RING
                     finger protein 98; tripartite motif-containing protein 36;
                     RING-type E3 ubiquitin transferase TRIM36"
                     /calculated_mol_wt=81439
     Region          16..113
                     /region_name="RING-HC_TRIM36_C-I"
                     /note="RING finger, HC subclass, found in tripartite
                     motif-containing protein 36 (TRIM36) and similar proteins;
                     cd16756"
                     /db_xref="CDD:438414"
     Region          139..193
                     /region_name="Bbox1_TRIM36_C-I"
                     /note="B-box-type 1 zinc finger found in tripartite
                     motif-containing protein 36 (TRIM36) and similar proteins;
                     cd19848"
                     /db_xref="CDD:380906"
     Region          198..242
                     /region_name="Bbox2_TRIM36_C-I"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein 36 (TRIM36) and similar proteins;
                     cd19778"
                     /db_xref="CDD:380836"
     Region          244..368
                     /region_name="BBC"
                     /note="B-Box C-terminal domain; smart00502"
                     /db_xref="CDD:128778"
     Region          347..396
                     /region_name="COS"
                     /note="TRIM C-terminal subgroup One Signature domain;
                     pfam18568"
                     /db_xref="CDD:436584"
     Region          419..479
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Region          503..706
                     /region_name="SPRY_PRY_TRIM36"
                     /note="PRY/SPRY domain in tripartite motif-containing
                     protein 36 (TRIM36); cd12894"
                     /db_xref="CDD:293951"
     CDS             1..716
                     /gene="TRIM36"
                     /gene_synonym="ANPH; ANPH1; HAPRIN; RBCC728; RNF98"
                     /coded_by="NM_001300759.2:275..2425"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS75287.1"
                     /db_xref="GeneID:55521"
                     /db_xref="HGNC:HGNC:16280"
                     /db_xref="MIM:609317"
ORIGIN      
        1 megdgsdspv tikniereli cpackelfth plilpcqhsi chkcvkelll tlddsfndvg
       61 sdnsnqsspr lrlpspsmdk idrinrpgwk rnsltprttv fpcpgcehdv dlgergingl
      121 frnftletiv eryrqaaraa taimcdlckp ppqestkscm dcsasycnec fkihhpwgti
      181 kaqheyvgpt tnfrpkilmc peheterinm ycelcrrpvc hlcklggnha nhrvttmssa
      241 yktlkeklsk didyligkes qvksqiseln llmketecng erakeeaith feklfevlee
      301 rkssvlkaid sskklrldkf qtqmeeyqgl lennglvgya qevlketdqs cfvqtakqlh
      361 lriqkatesl ksfrpaaqts fedyvvntsk qtellgelsf fssgidvpei neeqskvynn
      421 alinwhhpek dkadsyvley rkinrddems wneievcgts kiiqdlenss tyafrvrayk
      481 gsicspcsre lilhtppapv fsflfdekcg ynnehlllnl krdrvesrag fnlllaaeri
      541 qvgyytsldy iigdtgitkg khfwafrvep ysylvkvgva ssdklqewlr sprdavspry
      601 eqdsghdsgs edacfdssqp ftlvtigmqk ffipksptss nepenrvlpm ptsigifldc
      661 dkgkvdfydm dqmkclyerq vdcshtlypa falmgsggiq leepitakyl eyqedm
//
LOCUS       NP_001364130             895 aa            linear   PRI 27-DEC-2022
DEFINITION  sorbin and SH3 domain-containing protein 1 isoform 17 [Homo
            sapiens].
ACCESSION   NP_001364130 XP_016871011
VERSION     NP_001364130.1
DBSOURCE    REFSEQ: accession NM_001377201.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 895)
  AUTHORS   Gong S, Huo S, Luo Y, Li Y, Ma Y, Huang X, Hu M, Liu W, Zhang R,
            Cai X, Zhou L, Chen L, Ren Q, Zhang S, Zhu Y, Zhang X, Chen J, Wu
            J, Zhou X, Lin X, Han X and Ji L.
  TITLE     A variation in SORBS1 is associated with type 2 diabetes and
            high-density lipoprotein cholesterol in Chinese population
  JOURNAL   Diabetes Metab Res Rev 38 (5), e3524 (2022)
   PUBMED   35107206
  REMARK    GeneRIF: A variation in SORBS1 is associated with type 2 diabetes
            and high-density lipoprotein cholesterol in Chinese population.
REFERENCE   2  (residues 1 to 895)
  AUTHORS   Wang C and Cheng B.
  TITLE     MicroRNA miR-3646 promotes malignancy of lung adenocarcinoma cells
            by suppressing sorbin and SH3 domain-containing protein 1 via the
            c-Jun NH2-terminal kinase signaling pathway
  JOURNAL   Bioengineered 13 (3), 4869-4884 (2022)
   PUBMED   35196185
  REMARK    GeneRIF: MicroRNA miR-3646 promotes malignancy of lung
            adenocarcinoma cells by suppressing sorbin and SH3
            domain-containing protein 1 via the c-Jun NH2-terminal kinase
            signaling pathway.
REFERENCE   3  (residues 1 to 895)
  AUTHORS   Lu Z and Gao Y.
  TITLE     Screening differentially expressed genes between endometriosis and
            ovarian cancer to find new biomarkers for endometriosis
  JOURNAL   Ann Med 53 (1), 1377-1389 (2021)
   PUBMED   34409913
  REMARK    GeneRIF: Screening differentially expressed genes between
            endometriosis and ovarian cancer to find new biomarkers for
            endometriosis.
REFERENCE   4  (residues 1 to 895)
  AUTHORS   Cho WC, Jang JE, Kim KH, Yoo BC and Ku JL.
  TITLE     SORBS1 serves a metastatic role via suppression of AHNAK in
            colorectal cancer cell lines
  JOURNAL   Int J Oncol 56 (5), 1140-1151 (2020)
   PUBMED   32319594
  REMARK    GeneRIF: SORBS1 serves a metastatic role via suppression of AHNAK
            in colorectal cancer cell lines.
REFERENCE   5  (residues 1 to 895)
  AUTHORS   Sugis E, Dauvillier J, Leontjeva A, Adler P, Hindie V, Moncion T,
            Collura V, Daudin R, Loe-Mie Y, Herault Y, Lambert JC, Hermjakob H,
            Pupko T, Rain JC, Xenarios I, Vilo J, Simonneau M and Peterson H.
  TITLE     HENA, heterogeneous network-based data set for Alzheimer's disease
  JOURNAL   Sci Data 6 (1), 151 (2019)
   PUBMED   31413325
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 895)
  AUTHORS   Baumann CA, Ribon V, Kanzaki M, Thurmond DC, Mora S, Shigematsu S,
            Bickel PE, Pessin JE and Saltiel AR.
  TITLE     CAP defines a second signalling pathway required for
            insulin-stimulated glucose transport
  JOURNAL   Nature 407 (6801), 202-207 (2000)
   PUBMED   11001060
REFERENCE   7  (residues 1 to 895)
  AUTHORS   Asakura T, Nakanishi H, Sakisaka T, Takahashi K, Mandai K,
            Nishimura M, Sasaki T and Takai Y.
  TITLE     Similar and differential behaviour between the nectin-afadin-ponsin
            and cadherin-catenin systems during the formation and disruption of
            the polarized junctional alignment in epithelial cells
  JOURNAL   Genes Cells 4 (10), 573-581 (1999)
   PUBMED   10583506
REFERENCE   8  (residues 1 to 895)
  AUTHORS   Mandai K, Nakanishi H, Satoh A, Takahashi K, Satoh K, Nishioka H,
            Mizoguchi A and Takai Y.
  TITLE     Ponsin/SH3P12: an l-afadin- and vinculin-binding protein localized
            at cell-cell and cell-matrix adherens junctions
  JOURNAL   J Cell Biol 144 (5), 1001-1017 (1999)
   PUBMED   10085297
REFERENCE   9  (residues 1 to 895)
  AUTHORS   Ribon V, Herrera R, Kay BK and Saltiel AR.
  TITLE     A role for CAP, a novel, multifunctional Src homology 3
            domain-containing protein in formation of actin stress fibers and
            focal adhesions
  JOURNAL   J Biol Chem 273 (7), 4073-4080 (1998)
   PUBMED   9461600
REFERENCE   10 (residues 1 to 895)
  AUTHORS   Ribon V, Printen JA, Hoffman NG, Kay BK and Saltiel AR.
  TITLE     A novel, multifuntional c-Cbl binding protein in insulin receptor
            signaling in 3T3-L1 adipocytes
  JOURNAL   Mol Cell Biol 18 (2), 872-879 (1998)
   PUBMED   9447983
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157890.11 and AL158165.15.
            On Dec 17, 2019 this sequence version replaced XP_016871011.1.
            
            Summary: This gene encodes a CBL-associated protein which functions
            in the signaling and stimulation of insulin. Mutations in this gene
            may be associated with human disorders of insulin resistance.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.51127.1,
                                           SRR1660803.253034.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..895
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.1"
     Protein         1..895
                     /product="sorbin and SH3 domain-containing protein 1
                     isoform 17"
                     /note="ponsin; c-Cbl associated protein; Fas-ligand
                     associated factor 2; SH3 domain protein 5"
                     /calculated_mol_wt=98955
     Region          358..403
                     /region_name="Sorb"
                     /note="Sorbin homologous domain; smart00459"
                     /db_xref="CDD:128735"
     Region          657..711
                     /region_name="SH3_Sorbs1_1"
                     /note="First Src Homology 3 domain of Sorbin and SH3
                     domain containing 1 (Sorbs1), also called ponsin; cd11919"
                     /db_xref="CDD:212852"
     Site            order(663,665,668,672,690..691,704,706..707)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212852"
     Region          731..788
                     /region_name="SH3_Sorbs1_2"
                     /note="Second Src Homology 3 domain of Sorbin and SH3
                     domain containing 1 (Sorbs1), also called ponsin; cd11922"
                     /db_xref="CDD:212855"
     Site            order(737,739,742,746,764..765,780,782..783)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212855"
     Region          836..894
                     /region_name="SH3_Sorbs1_3"
                     /note="Third (or C-terminal) Src Homology 3 domain of
                     Sorbin and SH3 domain containing 1 (Sorbs1), also called
                     ponsin; cd11916"
                     /db_xref="CDD:212849"
     Site            order(843,845,848,852,870..871,886,888..889)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212849"
     CDS             1..895
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /coded_by="NM_001377201.1:184..2871"
                     /note="isoform 17 is encoded by transcript variant 17"
                     /db_xref="GeneID:10580"
                     /db_xref="HGNC:HGNC:14565"
                     /db_xref="MIM:605264"
ORIGIN      
        1 mssecdggsk avmnglapgs ngqdkatadp lrarsisavk iipvktvkna sglvlptdmd
       61 ltkictgkga vtlrasssyr etpssspasp qetrqheskp dewrlsssad angnaqpssl
      121 aakgyrsvhp nlpsdksqda tsssaaqpev ivvplylvnt drgqegtarp ptplgplgcv
      181 ptipatasaa spltfptldd fipphlqrwp hhsqparasg sfapisqtpp sfspppplvp
      241 papedlrrvs epdltgavss tdsspllnev sssligtdsq afpsvskpss aypsttivnp
      301 tivllqhnre qqkrlsslsd pvserrvgeq dsaptqekpt spgkaiekra kddsrrvvks
      361 tqdlsdvsmd evgiplrnte rskdwyktmf kqihklnrdd dsdlysprys fsedtkspls
      421 vprsksemsy idgekvvkrs atlplparss slksssernd weppdkkvdt rkyraepksi
      481 yeyqpgkssv ltnekmssai sptpeisset pgyiyssnfh avkresdgap gdltslener
      541 qiyksvlegg diplqglsgl krpsssastk dsesprhfip adylesteef irrrhddkek
      601 lladqrrlkr eqeeadiaar rhtgvipthh qfitnerfgd llniddtakr ksgsemrpar
      661 akfdfkaqtl kelplqkgdi vyiykqidqn wyegehhgrv gifprtyiel lppaekaqpk
      721 kltpvqvley geaiakfnfn gdtqvemsfr kgeritllrq vdenwyegri pgtsrqgifp
      781 ityvdvikrp lvknpvdymd lpfssspsrs ataspqqpqa qqrrvtpdrs qtsqdlfsyq
      841 alysyipqnd delelrdgdi vdvmekcddg wfvgtsrrtk qfgtfpgnyv kplyl
//
LOCUS       NP_001353161             317 aa            linear   PRI 27-DEC-2022
DEFINITION  ubiquitin-conjugating enzyme E2 U isoform 1 [Homo sapiens].
ACCESSION   NP_001353161 XP_005270555
VERSION     NP_001353161.1
DBSOURCE    REFSEQ: accession NM_001366232.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 317)
  AUTHORS   Doucette LP, Noel NCL, Zhai Y, Xu M, Caluseriu O, Hoang SC,
            Radziwon AJ and MacDonald IM.
  TITLE     Whole exome sequencing reveals putatively novel associations in
            retinopathies and drusen formation
  JOURNAL   Eur J Hum Genet 29 (8), 1171-1185 (2021)
   PUBMED   33776059
  REMARK    GeneRIF: Whole exome sequencing reveals putatively novel
            associations in retinopathies and drusen formation.
REFERENCE   2  (residues 1 to 317)
  AUTHORS   Guo Y, An L, Ng HM, Sy SM and Huen MS.
  TITLE     An E2-guided E3 Screen Identifies the RNF17-UBE2U Pair as Regulator
            of the Radiosensitivity, Immunodeficiency, Dysmorphic Features, and
            Learning Difficulties (RIDDLE) Syndrome Protein RNF168
  JOURNAL   J Biol Chem 292 (3), 967-978 (2017)
   PUBMED   27903633
  REMARK    GeneRIF: Further mining of the UBE2U interactome uncovered its
            cognate E3 RNF17 as a novel factor that, via the radiosensitivity,
            immunodeficiency, dysmorphic features, and learning difficulties
            (RIDDLE) syndrome protein RNF168, enforces DNA damage responses.
REFERENCE   3  (residues 1 to 317)
  AUTHORS   Sheng Y, Hong JH, Doherty R, Srikumar T, Shloush J, Avvakumov GV,
            Walker JR, Xue S, Neculai D, Wan JW, Kim SK, Arrowsmith CH, Raught
            B and Dhe-Paganon S.
  TITLE     A human ubiquitin conjugating enzyme (E2)-HECT E3 ligase
            structure-function screen
  JOURNAL   Mol Cell Proteomics 11 (8), 329-341 (2012)
   PUBMED   22496338
REFERENCE   4  (residues 1 to 317)
  AUTHORS   Markson G, Kiel C, Hyde R, Brown S, Charalabous P, Bremm A, Semple
            J, Woodsmith J, Duley S, Salehi-Ashtiani K, Vidal M, Komander D,
            Serrano L, Lehner P and Sanderson CM.
  TITLE     Analysis of the human E2 ubiquitin conjugating enzyme protein
            interaction network
  JOURNAL   Genome Res 19 (10), 1905-1911 (2009)
   PUBMED   19549727
REFERENCE   5  (residues 1 to 317)
  AUTHORS   van Wijk SJ, de Vries SJ, Kemmeren P, Huang A, Boelens R, Bonvin AM
            and Timmers HT.
  TITLE     A comprehensive framework of E2-RING E3 interactions of the human
            ubiquitin-proteasome system
  JOURNAL   Mol Syst Biol 5, 295 (2009)
   PUBMED   19690564
  REMARK    Erratum:[Mol Syst Biol. 2009;5:317]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL445205.14 and AL161916.8.
            On Sep 26, 2018 this sequence version replaced XP_005270555.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.196002.1,
                                           SRR5189667.104136.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371077.10/ ENSP00000360117.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..317
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     Protein         1..317
                     /product="ubiquitin-conjugating enzyme E2 U isoform 1"
                     /EC_number="2.3.2.23"
                     /note="ubiquitin-protein ligase U; ubiquitin carrier
                     protein U; E2 ubiquitin-conjugating enzyme U; ubiquitin
                     conjugating enzyme E2U (putative); testicular tissue
                     protein Li 216; ubiquitin conjugating enzyme E2 U
                     (putative)"
                     /calculated_mol_wt=37196
     Region          8..147
                     /region_name="UBCc"
                     /note="Ubiquitin-conjugating enzyme E2, catalytic (UBCc)
                     domain. This is part of the ubiquitin-mediated protein
                     degradation pathway in which a thiol-ester linkage forms
                     between a conserved cysteine and the C-terminus of
                     ubiquitin and complexes with ubiquitin...; cd00195"
                     /db_xref="CDD:238117"
     Site            order(64..65,101..102)
                     /site_type="active"
                     /note="E3 interaction residues [active]"
                     /db_xref="CDD:238117"
     Site            order(75..76,80..81,83,88..90,92..93,99..100,103,108,111,
                     114,117..118,120,122..123)
                     /site_type="active"
                     /note="Ub thioester intermediate interaction residues
                     [active]"
                     /db_xref="CDD:238117"
     Site            89
                     /site_type="active"
                     /note="active site cysteine"
                     /db_xref="CDD:238117"
     Region          281..317
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VVX9.1)"
     CDS             1..317
                     /gene="UBE2U"
                     /coded_by="NM_001366232.2:429..1382"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS90966.1"
                     /db_xref="GeneID:148581"
                     /db_xref="HGNC:HGNC:28559"
ORIGIN      
        1 mhgraylllh rdfcdlkenn ykgitakpvs edmmewevei eglqnsvwqg lvfqltihft
       61 seynyappvv kfitipfhpn vdphtgqpci dfldnpekwn tnytlssill alqvmlsnpv
      121 lenpvnleaa rilvkdesly rtilrlfnrp lqmkddsqel pkdprkcirp ikttsfsdyy
      181 qtwsriatsk ateyyrtpll kvpnfigqyy kwkkmdlqhq kewnlkysvi kcwlarkrmp
      241 hevthsmeei klcptlneif lesptainsi tdiyeteeeg wksdtslyen dtdepreeev
      301 edliswtntl ntntsed
//
LOCUS       NP_001335628             458 aa            linear   PRI 28-DEC-2022
DEFINITION  stabilizer of axonemal microtubules 2 isoform a [Homo sapiens].
ACCESSION   NP_001335628
VERSION     NP_001335628.1
DBSOURCE    REFSEQ: accession NM_001348699.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 458)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 458)
  AUTHORS   Dacheux D, Roger B, Bosc C, Landrein N, Roche E, Chansel L, Trian
            T, Andrieux A, Papaxanthos-Roche A, Marthan R, Robinson DR and
            Bonhivers M.
  TITLE     Human FAM154A (SAXO1) is a microtubule-stabilizing protein specific
            to cilia and related structures
  JOURNAL   J Cell Sci 128 (7), 1294-1307 (2015)
   PUBMED   25673876
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC026624.8 and DB233386.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DB233386.1, DRR138524.349075.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000682753.1/ ENSP00000508095.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..458
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.2"
     Protein         1..458
                     /product="stabilizer of axonemal microtubules 2 isoform a"
                     /note="protein FAM154B; family with sequence similarity
                     154, member B"
                     /calculated_mol_wt=52757
     CDS             1..458
                     /gene="SAXO2"
                     /gene_synonym="FAM154B"
                     /coded_by="NM_001348699.2:63..1439"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS92049.1"
                     /db_xref="GeneID:283726"
                     /db_xref="HGNC:HGNC:33727"
ORIGIN      
        1 mgaksmrswc lcqicscgrh hcprgttriy ensgvfcptt eylekypmyd nvlppqslka
       61 kqeirachgk megittfksd ycpyeivkqp rhvpeeykpk qgkidlgtty krdlnsykvq
      121 pvaivrpler qvkkgkldtv ptykddyraw dlhkselykp eqtyhpptvk fgnsttfqdd
      181 fvpqeikprq sfkpssvvkr stapfngits hrldyiphql elkferpkev ykptdqrfed
      241 ltthrcdfqg ligetaklcr pvhtrvtqna lfegstefre sfqpweippp evkkvpeyvp
      301 ptgsmllnst shldyvpyqa nhvvpirpvs qkrsnnfpfq gksimkedfp awescrqgli
      361 kkqqqipnps gkfdglstfr shyvphelip tesckplnia fkssvpfddv tmysveytpk
      421 rqeicpasyp sppgyifdnt nsqghkffrk iipavkaf
//
LOCUS       NP_001333172            2036 aa            linear   PRI 28-DEC-2022
DEFINITION  ral GTPase-activating protein subunit alpha-1 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001333172 XP_016876634
VERSION     NP_001333172.1
DBSOURCE    REFSEQ: accession NM_001346243.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2036)
  AUTHORS   Wagner M, Skorobogatko Y, Pode-Shakked B, Powell CM, Alhaddad B,
            Seibt A, Barel O, Heimer G, Hoffmann C, Demmer LA, Perilla-Young Y,
            Remke M, Wieczorek D, Navaratnarajah T, Lichtner P, Klee D,
            Shamseldin HE, Al Mutairi F, Mayatepek E, Strom T, Meitinger T,
            Alkuraya FS, Anikster Y, Saltiel AR and Distelmaier F.
  TITLE     Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental
            Disability, Muscular Hypotonia, Infantile Spasms, and Feeding
            Abnormalities
  JOURNAL   Am J Hum Genet 106 (2), 246-255 (2020)
   PUBMED   32004447
  REMARK    GeneRIF: Bi-allelic Variants in RALGAPA1 Cause Profound
            Neurodevelopmental Disability, Muscular Hypotonia, Infantile
            Spasms, and Feeding Abnormalities.
REFERENCE   2  (residues 1 to 2036)
  AUTHORS   Chen Q, Quan C, Xie B, Chen L, Zhou S, Toth R, Campbell DG, Lu S,
            Shirakawa R, Horiuchi H, Li C, Yang Z, MacKintosh C, Wang HY and
            Chen S.
  TITLE     GARNL1, a major RalGAP alpha subunit in skeletal muscle, regulates
            insulin-stimulated RalA activation and GLUT4 trafficking via
            interaction with 14-3-3 proteins
  JOURNAL   Cell Signal 26 (8), 1636-1648 (2014)
   PUBMED   24768767
  REMARK    GeneRIF: GARNL1/RalGAPalpha1 is amajor RalGAPalphasubunit in
            skeletal muscle, and is regulated by protein phosphorylation and
            14-3-3 binding upon stimulation with insulin or muscle contraction.
REFERENCE   3  (residues 1 to 2036)
  AUTHORS   Shimojima K, Komoike Y, Tohyama J, Takahashi S, Paez MT, Nakagawa
            E, Goto Y, Ohno K, Ohtsu M, Oguni H, Osawa M, Higashinakagawa T and
            Yamamoto T.
  TITLE     TULIP1 (RALGAPA1) haploinsufficiency with brain development delay
  JOURNAL   Genomics 94 (6), 414-422 (2009)
   PUBMED   19733229
  REMARK    GeneRIF: Reduced TULIP1 was found in lymphocytes from a
            developmentally delayed epileptic patient with a microdeletion of
            14q13.1q13.3 and in cell lysates from other patients with a
            missense P297 mutation.
REFERENCE   4  (residues 1 to 2036)
  AUTHORS   Shirakawa R, Fukai S, Kawato M, Higashi T, Kondo H, Ikeda T,
            Nakayama E, Okawa K, Nureki O, Kimura T, Kita T and Horiuchi H.
  TITLE     Tuberous sclerosis tumor suppressor complex-like complexes act as
            GTPase-activating proteins for Ral GTPases
  JOURNAL   J Biol Chem 284 (32), 21580-21588 (2009)
   PUBMED   19520869
REFERENCE   5  (residues 1 to 2036)
  AUTHORS   Schmid EM, Ford MG, Burtey A, Praefcke GJ, Peak-Chew SY, Mills IG,
            Benmerah A and McMahon HT.
  TITLE     Role of the AP2 beta-appendage hub in recruiting partners for
            clathrin-coated vesicle assembly
  JOURNAL   PLoS Biol 4 (9), e262 (2006)
   PUBMED   16903783
REFERENCE   6  (residues 1 to 2036)
  AUTHORS   Schwarzbraun T, Vincent JB, Schumacher A, Geschwind DH, Oliveira J,
            Windpassinger C, Ofner L, Ledinegg MK, Kroisel PM, Wagner K and
            Petek E.
  TITLE     Cloning, genomic structure, and expression profiles of TULIP1
            (GARNL1), a brain-expressed candidate gene for 14q13-linked
            neurological phenotypes, and its murine homologue
  JOURNAL   Genomics 84 (3), 577-586 (2004)
   PUBMED   15498464
REFERENCE   7  (residues 1 to 2036)
  AUTHORS   Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L,
            Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard
            A, Glueck D, McGavran L, Berry R, Pollack J and Sikela JM.
  TITLE     Lineage-specific gene duplication and loss in human and great ape
            evolution
  JOURNAL   PLoS Biol 2 (7), E207 (2004)
   PUBMED   15252450
REFERENCE   8  (residues 1 to 2036)
  AUTHORS   Swaminathan S, Kiendl F, Korner R, Lupetti R, Hengst L and Melchior
            F.
  TITLE     RanGAP1*SUMO1 is phosphorylated at the onset of mitosis and remains
            associated with RanBP2 upon NPC disassembly
  JOURNAL   J Cell Biol 164 (7), 965-971 (2004)
   PUBMED   15037602
  REMARK    GeneRIF: RanGAP1 remains associated with RanBP2/Nup358 and the SUMO
            E2-conjugating enzyme Ubc9 in mitosis.
REFERENCE   9  (residues 1 to 2036)
  AUTHORS   Heng JI and Tan SS.
  TITLE     Cloning and characterization of GRIPE, a novel interacting partner
            of the transcription factor E12 in developing mouse forebrain
  JOURNAL   J Biol Chem 277 (45), 43152-43159 (2002)
   PUBMED   12200424
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162311.5, AL137818.4,
            AL160231.4 and AY596970.1.
            On Oct 4, 2016 this sequence version replaced XP_016876634.1.
            
            Summary: This gene encodes a major subunit of the RAL-GTPase
            activating protein. A similar protein in mouse binds E12, a
            transcriptional regulator of immunoglobulin genes. The mouse
            protein also functions in skeletal muscle by binding to the
            regulatory 14-3-3 proteins upon stimulation with insulin or muscle
            contraction. A pseudogene of this gene has been identified on
            chromosome 9. [provided by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (6) differs in the 3' UTR compared
            to variant 1. Variants 1 and 6 encode the same isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2036
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q13.2"
     Protein         1..2036
                     /product="ral GTPase-activating protein subunit alpha-1
                     isoform 1"
                     /note="GTPase activating Rap/RanGAP domain-like 1;
                     GAP-related interacting protein to E12; tuberin-like
                     protein 1; Ral GTPase activating protein, alpha subunit 1
                     (catalytic); Ral GTPase activating protein catalytic alpha
                     subunit 1"
                     /calculated_mol_wt=229702
     Region          343..384
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Region          476..497
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            711
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Region          715..753
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            721
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            754
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            773
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            778
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18220336; propagated from
                     UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            797
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Region          849..910
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            860
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            861
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            864
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Region          982..1009
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            986
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            990
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            994
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            1000
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O55007; propagated from
                     UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            1002
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q6GYP7; propagated from
                     UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            1004
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O55007; propagated from
                     UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Region          1327..2035
                     /region_name="Minimal domain that binds to TCF3/E12.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Site            1478
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O55007; propagated from
                     UniProtKB/Swiss-Prot (Q6GYQ0.1)"
     Region          1826..2002
                     /region_name="Rap_GAP"
                     /note="Rap/ran-GAP; pfam02145"
                     /db_xref="CDD:426620"
     CDS             1..2036
                     /gene="RALGAPA1"
                     /gene_synonym="GARNL1; GRIPE; NEDHRIT; p240; RalGAPalpha1;
                     TULIP1"
                     /coded_by="NM_001346243.2:461..6571"
                     /note="isoform 1 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS32065.1"
                     /db_xref="GeneID:253959"
                     /db_xref="HGNC:HGNC:17770"
                     /db_xref="MIM:608884"
ORIGIN      
        1 mfskkphgdv kkstqkvldt kkdaltrlkh lrivienaes idlkqffdqh fshiyyvffe
       61 nfvtieaslk qkghksqree ldailfifek ilqllperih qrwqfhsigl ilkkllhtgn
      121 slkirregvr lfllwlqalq nncskeqlwm fsclipgfsa pqsehgprtl dnlinpplnl
      181 qetqvtieei tplvppqsgd kgqedltsyf leallkyivi qvkslewknk enqergfsfl
      241 fshfkkyylp yifpnicken slyhpildip qmrpkphyvv ikkdaetnea iyctkepfik
      301 arvivirwlv sfwlepkpht gphipgmege vlpkniqraa aslvsreesk ndnadktdrt
      361 tepeqshsnt stlterepss sslcsideeh ltdieivrrv fsskrsnvnf vteifrqafl
      421 lpiceaaamr kvvkvyqewi qqeekplfmq epeeivitss dlpcienvtd hdismeegek
      481 reeengtnta dhvrnsswak ngsyqgalhn aseeateqni ragtqavlqv fiinssnifl
      541 lepaneiknl ldehtdmckr ilniyrymvv qvsmdkktwe qmllvllrvt esvlkmpsqa
      601 flqfqgkknm tlagrlagpl fqtlivawik anlnvyisre lwddllsvls sltyweelat
      661 ewsltmetlt kvlarnlysl dlsdlpldkl seqkqkkhkg kgvghefqkv svdksfsrgw
      721 srdqpgqapm rqrsatttgs pgtekarsiv rqktvdidda qilprstrvr hfsqseetgn
      781 evfgalneeq plprssstsd ilepftvera kvnkedmsqk lpplnsdigg ssanvpdlmd
      841 efiaerlrsg nastmtrrgs spgsleipkd lpdilnkqnq mrpiddpgvp sewtspasag
      901 ssdlissdsh sdsfsafqyd grkfdnfgfg tdtgvtssad vdsgsghhqs aeeqevaslt
      961 tlhidsetss lnqqafsaev atitgsesas pvhsplgsrs qtpspstlni dhmeqkdlql
     1021 deklhhsvlq tpddleisef pseccsvmag gtltgwhadv atvmwrrmlg ilgdvnsimd
     1081 peihaqvfdy lcelwqnlak irdnlgistd nltspsppvl ipplriltpw lfkatmltdk
     1141 ykqgklhayk licntmkrrq dvspnrdflt hfynimhcgl lhidqdivnt iikhcspqff
     1201 slglpgatml imdfivaagr vassaflnap rveaqvllgs lvcfpnlyce lpslhpnipd
     1261 vavsqftdvk eliiktvlss ardepsgpar cvalcslgiw iceelvhesh hpqikealnv
     1321 icvslkftnk tvahvacnml hmlvhyvprl qiyqpdsplk iiqiliatit hllpsteass
     1381 yemdkrlvvs lllclldwim alplktllqp fhatgaesdk teksvlnciy kvlhgcvyga
     1441 qcfsnpryfp mslsdlasvd ydpfmhlesl kepeplhspd serssklqpv tevktqmqhg
     1501 lisiaartvi thlvnhlghy pmsggpamlt sqvcenhdnh ysestelspe lfespniqff
     1561 vlnnttlvsc iqirseenmp ggglsaglas ansnvriivr dlsgkyswds ailygpppvs
     1621 glseptsfml slshqekpee pptsnecled itvkdglslq fkrfretvpt wdtirdeedv
     1681 ldellqylgv tspeclqrtg islnipapqp vcisekqend vinailkqht eekefvekhf
     1741 ndlnmkaveq depipqkpqs afyycrllls ilgmnswdkr rsfhllkkne kllrelrnld
     1801 srqcrethki avfyvaegqe dkhsiltntg gsqayedfva glgwevnltn hcgfmgglqk
     1861 nkstglttpy fatstvevif hvstrmpsds ddsltkklrh lgndevhivw sehtrdyrrg
     1921 iiptefgdvl iviypmknhm fsiqimkkpe vpffgplfdg aivngkvlpi mvratainas
     1981 ralksliply qnfyeerary lqtivqhhle pttfedfaaq vfspapyhhl psdadh
//
LOCUS       NP_001166129             172 aa            linear   PRI 30-DEC-2022
DEFINITION  lateral signaling target protein 2 homolog isoform 5 [Homo
            sapiens].
ACCESSION   NP_001166129
VERSION     NP_001166129.1
DBSOURCE    REFSEQ: accession NM_001172658.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 172)
  AUTHORS   Zambrano S, Rodriguez PQ, Guo J, Moller-Hackbarth K, Schwarz A and
            Patrakka J.
  TITLE     FYVE domain-containing protein ZFYVE28 regulates EGFR-signaling in
            podocytes but is not critical for the function of filtration
            barrier in mice
  JOURNAL   Sci Rep 8 (1), 4712 (2018)
   PUBMED   29549365
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 172)
  AUTHORS   Deng X, Sabino EC, Cunha-Neto E, Ribeiro AL, Ianni B, Mady C, Busch
            MP and Seielstad M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 172)
  AUTHORS   Fanous AH, Zhou B, Aggen SH, Bergen SE, Amdur RL, Duan J, Sanders
            AR, Shi J, Mowry BJ, Olincy A, Amin F, Cloninger CR, Silverman JM,
            Buccola NG, Byerley WF, Black DW, Freedman R, Dudbridge F, Holmans
            PA, Ripke S, Gejman PV, Kendler KS and Levinson DF.
  CONSRTM   Schizophrenia Psychiatric Genome-Wide Association Study (GWAS)
            Consortium
  TITLE     Genome-wide association study of clinical dimensions of
            schizophrenia: polygenic effect on disorganized symptoms
  JOURNAL   Am J Psychiatry 169 (12), 1309-1317 (2012)
   PUBMED   23212062
REFERENCE   4  (residues 1 to 172)
  AUTHORS   Mosesson Y, Chetrit D, Schley L, Berghoff J, Ziv T, Carvalho S,
            Milanezi F, Admon A, Schmitt F, Ehrlich M and Yarden Y.
  TITLE     Monoubiquitinylation regulates endosomal localization of Lst2, a
            negative regulator of EGF receptor signaling
  JOURNAL   Dev Cell 16 (5), 687-698 (2009)
   PUBMED   19460345
  REMARK    GeneRIF: Study concludes that endosomal localization of Lst2
            (ZFYVE28), along with an ability to divert incoming EGFR molecules
            to degradation in lysosomes, is regulated by
            ubiquitinylation/deubiquitinylation cycles.
REFERENCE   5  (residues 1 to 172)
  AUTHORS   Satoh J, Obayashi S, Misawa T, Sumiyoshi K, Oosumi K and Tabunoki
            H.
  TITLE     Protein microarray analysis identifies human cellular prion protein
            interactors
  JOURNAL   Neuropathol Appl Neurobiol 35 (1), 16-35 (2009)
   PUBMED   18482256
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL645924.13, BC032605.1, BC137310.1 and BC035793.1.
            
            Transcript Variant: This variant (5) represents use of an alternate
            promoter and 5' UTR, uses an upstream start codon, and uses an
            alternate 3' coding region and 3' UTR, compared to variant 1. The
            resulting isoform (5) has a longer N-terminus and a shorter and
            distinct C-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC032605.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..172
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     Protein         1..172
                     /product="lateral signaling target protein 2 homolog
                     isoform 5"
                     /note="lateral signaling target protein 2 homolog; zinc
                     finger, FYVE domain containing 28; hLst2; zinc finger FYVE
                     domain-containing protein 28; lateral signaling target-2
                     homolog"
                     /calculated_mol_wt=20039
     CDS             1..172
                     /gene="ZFYVE28"
                     /gene_synonym="lst-2; LST2; LYST2"
                     /coded_by="NM_001172658.3:323..841"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS54710.1"
                     /db_xref="GeneID:57732"
                     /db_xref="HGNC:HGNC:29334"
                     /db_xref="MIM:614176"
ORIGIN      
        1 mmnrfrkwly kpkdnvlnii nqimdecipq draprdfcvk fpeeirhdnl agqlwfgaec
       61 laagsiimnr elesmamrpl akeltrsled vrgalrdqal rdlntytekm realrhfdvl
      121 faefelsyvs amvpvkspre yyvqqevivl fcetverngk gvlkfmwncn gp
//
LOCUS       NP_001381151             614 aa            linear   PRI 31-DEC-2022
DEFINITION  RUN domain-containing protein 1 isoform 3 [Homo sapiens].
ACCESSION   NP_001381151 XP_005257137
VERSION     NP_001381151.1
DBSOURCE    REFSEQ: accession NM_001394222.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 614)
  AUTHORS   Jalali A, Amirian ES, Bainbridge MN, Armstrong GN, Liu Y,
            Tsavachidis S, Jhangiani SN, Plon SE, Lau CC, Claus EB,
            Barnholtz-Sloan JS, Il'yasova D, Schildkraut J, Ali-Osman F,
            Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson
            SH, Bernstein JL, Merrell RT, Wrensch MR, Davis FG, Lai R, Shete S,
            Aldape K, Amos CI, Muzny DM, Gibbs RA, Melin BS and Bondy ML.
  TITLE     Targeted sequencing in chromosome 17q linkage region identifies
            familial glioma candidates in the Gliogene Consortium
  JOURNAL   Sci Rep 5, 8278 (2015)
   PUBMED   25652157
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 614)
  AUTHORS   Song Q, Jing H, Wu H, Zhou G, Kajiyama T and Kambara H.
  TITLE     Gene expression analysis on a photodiode array-based
            bioluminescence analyzer by using sensitivity-improved SRPP
  JOURNAL   Analyst 135 (6), 1315-1319 (2010)
   PUBMED   20498880
REFERENCE   3  (residues 1 to 614)
  AUTHORS   Llanos S, Efeyan A, Monsech J, Dominguez O and Serrano M.
  TITLE     A high-throughput loss-of-function screening identifies novel p53
            regulators
  JOURNAL   Cell Cycle 5 (16), 1880-1885 (2006)
   PUBMED   16929179
REFERENCE   4  (residues 1 to 614)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC055866.19.
            On Apr 7, 2021 this sequence version replaced XP_005257137.1.
            
            Summary: This gene encodes a protein that contains a RUN (RPIP8,
            UNC-14 and NESCA) domain and a coiled coil domain. The encoded
            protein may negatively regulate p53 transcriptional activity. This
            gene is a potential candidate gene for predisposition to glioma in
            humans. [provided by RefSeq, May 2017].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.3424347.1,
                                           SRR14372080.3500465.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..614
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..614
                     /product="RUN domain-containing protein 1 isoform 3"
                     /note="RUN domain-containing protein 1"
                     /calculated_mol_wt=67583
     Region          15..36
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96C34.3)"
     Site            54
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q96C34.3)"
     Region          57..79
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96C34.3)"
     Site            71
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96C34.3)"
     Site            75
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96C34.3)"
     Region          140..177
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96C34.3)"
     Region          <169..>278
                     /region_name="Mplasa_alph_rch"
                     /note="helix-rich Mycoplasma protein; TIGR04523"
                     /db_xref="CDD:275316"
     Region          263..582
                     /region_name="RUN_RUNDC1"
                     /note="RUN domain found in RUN domain-containing protein 1
                     (RUNDC1) and similar proteins; cd17683"
                     /db_xref="CDD:439045"
     Site            498
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q0VDN7; propagated from
                     UniProtKB/Swiss-Prot (Q96C34.3)"
     CDS             1..614
                     /gene="RUNDC1"
                     /gene_synonym="RUND1"
                     /coded_by="NM_001394222.1:13..1857"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:146923"
                     /db_xref="HGNC:HGNC:25418"
                     /db_xref="MIM:619250"
ORIGIN      
        1 maaveaaaep vtvvaavgpk akdeeeeeee plppceavrw apvgavaear pgatafleea
       61 taeepgaapg sppdspgrtl rrlraerrrl dsallalssh faqvqfrlrq vvrgapaeqq
      121 rllreledfa frgcphvlgy egpgdpasde gdglpgdrpw lrgedqseqe kqerletqre
      181 kqkelilqlk tqlddletfa yqegsydslp qsvvlerqrv iidelikkld mnlnedissl
      241 steelrqrvd aavaqivnpa rvkeqlveql ktqirdlemf infiqdevgs plqtggghce
      301 ckaggktgng csrtgssrtp pgnsktakae dvkkvretgl hlmrralavl qifavsqfgc
      361 atgqipptlw qrvqadrdys pllkrlevsv drvkqlalrq qphdhvitsa nlqdlslggk
      421 deltmavrke ltvavrdlla hglyasspgm slvmapiacl lpafssapea mhpwelfvky
      481 yhakngrayv esparklsqs falpvtggtv vtpkqsllta ihmvltehdp fkrsadselk
      541 alvcmalneq rlvswvnlic ksgsliephy qpwsymahtg fesalnllsr lsslkfslpv
      601 dlavrqlkni kdaf
//
LOCUS       NP_001381248             422 aa            linear   PRI 31-DEC-2022
DEFINITION  putative short-chain dehydrogenase/reductase family 42E member 2
            isoform 2 [Homo sapiens].
ACCESSION   NP_001381248
VERSION     NP_001381248.1
DBSOURCE    REFSEQ: accession NM_001394319.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 422)
  AUTHORS   Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD,
            Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser
            E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J and
            Oppermann U.
  TITLE     The SDR (short-chain dehydrogenase/reductase and related enzymes)
            nomenclature initiative
  JOURNAL   Chem Biol Interact 178 (1-3), 94-98 (2009)
   PUBMED   19027726
REFERENCE   2  (residues 1 to 422)
  AUTHORS   Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G,
            Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E,
            Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM,
            Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C,
            Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M,
            Clark LM, Cohn JD, Denys M, Detter JC, Dickson M,
            Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos
            D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady
            DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand
            CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H,
            Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y,
            Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ,
            Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S,
            Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer
            J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH,
            Scott D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R,
            Tesmer JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M,
            Tsai M, Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL,
            Wills PL, Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA,
            Deaven L, Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler
            EE, Gilna P, Lucas SM, Myers RM, Rubin EM and Pennacchio LA.
  TITLE     The sequence and analysis of duplication-rich human chromosome 16
  JOURNAL   Nature 432 (7020), 988-994 (2004)
   PUBMED   15616553
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009019.10.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1968968 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000602312.3/ ENSP00000473474.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..422
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.2"
     Protein         1..422
                     /product="putative short-chain dehydrogenase/reductase
                     family 42E member 2 isoform 2"
                     /EC_number="1.1.1.-"
                     /note="putative short-chain dehydrogenase/reductase family
                     42E member 2; putative 3-beta-HSD family protein
                     ENSP00000330812"
                     /calculated_mol_wt=46738
     Region          1..32
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKP2.3)"
     Region          35..373
                     /region_name="3b-HSD_like_1_SDR_e"
                     /note="3beta-hydroxysteroid dehydrogenase (3b-HSD)-like,
                     subgroup1, extended (e) SDRs; cd09812"
                     /db_xref="CDD:187672"
     Site            order(40,42..45,64..66,102..104,121,144..146,176,180,
                     208..211)
                     /site_type="other"
                     /note="putative NAD(P) binding site [chemical binding]"
                     /db_xref="CDD:187672"
     Site            order(122,146,176,180)
                     /site_type="active"
                     /db_xref="CDD:187672"
     Site            order(146,176,210,223,234,239)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:187672"
     CDS             1..422
                     /gene="SDR42E2"
                     /coded_by="NM_001394319.2:96..1364"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS92125.1"
                     /db_xref="GeneID:100288072"
                     /db_xref="HGNC:HGNC:35414"
ORIGIN      
        1 mksnpprssl eackaagqap qqktqakptk aarqkvlvtg gggylgfslg shlaksgtsv
       61 illdrrrpqw elspetkfiq advrdeealy rafegvdcvf hvasygmsga eklqkeqies
      121 invggtklvi dvcvrrrvpr liytstvnva fggkpieqgd edsvpyfpld ehvdhysrtk
      181 aiadqltlma ngmplpgggt lrtcvlrppg iygpeeqrhl prvaghikkr lfmfrfgdhk
      241 armnwvhvhn lvqahvlaae alttakgyva sgqayyindg esvnlfewma plfeklgysq
      301 pwiqvptswv yltaavmerl hlalrpicsl pplltrsevr svavthtfqi akaraqlgya
      361 pdkfrfadav elyvqsttrr prgstartll rlllrlllfl gllalalhfl glqplhaave
      421 rl
//
LOCUS       NP_001171469             689 aa            linear   PRI 18-JAN-2023
DEFINITION  sodium-dependent phosphate transport protein 2B isoform b [Homo
            sapiens].
ACCESSION   NP_001171469
VERSION     NP_001171469.2
DBSOURCE    REFSEQ: accession NM_001177998.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 689)
  AUTHORS   Jonsson ALM, Hernando N, Knopfel T, Mogensen S, Bendstrup E,
            Hilberg O, Christensen JH, Simonsen U and Wagner CA.
  TITLE     Impaired phosphate transport in SLC34A2 variants in patients with
            pulmonary alveolar microlithiasis
  JOURNAL   Hum Genomics 16 (1), 13 (2022)
   PUBMED   35443721
  REMARK    GeneRIF: Impaired phosphate transport in SLC34A2 variants in
            patients with pulmonary alveolar microlithiasis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 689)
  AUTHORS   Vlasenkova R, Nurgalieva A, Akberova N, Bogdanov M and Kiyamova R.
  TITLE     Characterization of SLC34A2 as a Potential Prognostic Marker of
            Oncological Diseases
  JOURNAL   Biomolecules 11 (12), 1878 (2021)
   PUBMED   34944522
  REMARK    GeneRIF: Characterization of SLC34A2 as a Potential Prognostic
            Marker of Oncological Diseases.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 689)
  AUTHORS   He J, Zhou M, Li X, Gu S, Cao Y, Xing T, Chen W, Chu C, Gu F, Zhou
            J, Jin Y, Ma J, Ma D and Zou Q.
  TITLE     SLC34A2 simultaneously promotes papillary thyroid carcinoma growth
            and invasion through distinct mechanisms
  JOURNAL   Oncogene 39 (13), 2658-2675 (2020)
   PUBMED   32005974
  REMARK    GeneRIF: SLC34A2 simultaneously promotes papillary thyroid
            carcinoma growth and invasion through distinct mechanisms.
REFERENCE   4  (residues 1 to 689)
  AUTHORS   Jonsson ALM, Bendstrup E, Mogensen S, Kopras EJ, McCormack FX,
            Campo I, Mariani F, Escribano-Montaner A, Holm AM, Martinez-Colls
            MDM, Pintos-Morell G, Taille C, Crestani B, Hilberg O, Hvarregaard
            Christensen J and Simonsen U.
  TITLE     Eight novel variants in the SLC34A2 gene in pulmonary alveolar
            microlithiasis
  JOURNAL   Eur Respir J 55 (2), 1900806 (2020)
   PUBMED   31831582
  REMARK    GeneRIF: Eight novel variants in the SLC34A2 gene in pulmonary
            alveolar microlithiasis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 689)
  AUTHORS   Gerber DE, Infante JR, Gordon MS, Goldberg SB, Martin M, Felip E,
            Martinez Garcia M, Schiller JH, Spigel DR, Cordova J, Westcott V,
            Wang Y, Shames DS, Choi Y, Kahn R, Dere RC, Samineni D, Xu J, Lin
            K, Wood K, Royer-Joo S, Lemahieu V, Schuth E, Vaze A, Maslyar D,
            Humke EW and Burris HA 3rd.
  TITLE     Phase Ia Study of Anti-NaPi2b Antibody-Drug Conjugate Lifastuzumab
            Vedotin DNIB0600A in Patients with Non-Small Cell Lung Cancer and
            Platinum-Resistant Ovarian Cancer
  JOURNAL   Clin Cancer Res 26 (2), 364-372 (2020)
   PUBMED   31540980
  REMARK    GeneRIF: Phase Ia Study of Anti-NaPi2b Antibody-Drug Conjugate
            Lifastuzumab Vedotin DNIB0600A in Patients with Non-Small Cell Lung
            Cancer and Platinum-Resistant Ovarian Cancer.
REFERENCE   6  (residues 1 to 689)
  AUTHORS   Xu H, Inouye M, Missey T, Collins JF and Ghishan FK.
  TITLE     Functional characterization of the human intestinal NaPi-IIb
            cotransporter in hamster fibroblasts and Xenopus oocytes
  JOURNAL   Biochim Biophys Acta 1567 (1-2), 97-105 (2002)
   PUBMED   12488042
REFERENCE   7  (residues 1 to 689)
  AUTHORS   Segawa H, Kaneko I, Takahashi A, Kuwahata M, Ito M, Ohkido I,
            Tatsumi S and Miyamoto K.
  TITLE     Growth-related renal type II Na/Pi cotransporter
  JOURNAL   J Biol Chem 277 (22), 19665-19672 (2002)
   PUBMED   11880379
REFERENCE   8  (residues 1 to 689)
  AUTHORS   Xu H, Collins JF, Bai L, Kiela PR and Ghishan FK.
  TITLE     Regulation of the human sodium-phosphate cotransporter NaP(i)-IIb
            gene promoter by epidermal growth factor
  JOURNAL   Am J Physiol Cell Physiol 280 (3), C628-C636 (2001)
   PUBMED   11171583
REFERENCE   9  (residues 1 to 689)
  AUTHORS   Xu H, Bai L, Collins JF and Ghishan FK.
  TITLE     Molecular cloning, functional characterization, tissue
            distribution, and chromosomal localization of a human, small
            intestinal sodium-phosphate (Na+-Pi) transporter (SLC34A2)
  JOURNAL   Genomics 62 (2), 281-284 (1999)
   PUBMED   10610722
REFERENCE   10 (residues 1 to 689)
  AUTHORS   Feild JA, Zhang L, Brun KA, Brooks DP and Edwards RM.
  TITLE     Cloning and functional characterization of a sodium-dependent
            phosphate transporter expressed in human lung and small intestine
  JOURNAL   Biochem Biophys Res Commun 258 (3), 578-582 (1999)
   PUBMED   10329428
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092436.5.
            On May 31, 2019 this sequence version replaced NP_001171469.1.
            
            Summary: The protein encoded by this gene is a pH-sensitive
            sodium-dependent phosphate transporter. Phosphate uptake is
            increased at lower pH. Defects in this gene are a cause of
            pulmonary alveolar microlithiasis. Three transcript variants
            encoding two different isoforms have been found for this gene.
            [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction at the 5' end of an exon compared to variant 1. The
            resulting isoform (b) has the same N- and C-termini but is 1 aa
            shorter compared to isoform a. Variants 2 and 3 both encode the
            same isoform (b).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF146796.1, BC146666.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..689
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p15.2"
     Protein         1..689
                     /product="sodium-dependent phosphate transport protein 2B
                     isoform b"
                     /note="type II sodium-dependent phosphate transporter 3b;
                     sodium-dependent phosphate transport protein 2B;
                     sodium/phosphate cotransporter 2B; solute carrier family
                     34 (sodium phosphate), member 2; solute carrier family 34
                     (type II sodium/phosphate cotransporter), member 2"
                     /calculated_mol_wt=75527
     Site            100..120
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95436.3)"
     Region          104..603
                     /region_name="2a58"
                     /note="Phosphate:Na+ Symporter (PNaS) Family; TIGR01013"
                     /db_xref="CDD:162157"
     Site            125..126
                     /site_type="other"
                     /note="Breakpoint for translocation to form a SLC34A2-ROS1
                     fusion protein; propagated from UniProtKB/Swiss-Prot
                     (O95436.3)"
     Site            135..155
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95436.3)"
     Site            212..232
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95436.3)"
     Site            294
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95436.3)"
     Site            307
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95436.3)"
     Site            312
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95436.3)"
     Site            320
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95436.3)"
     Site            339
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95436.3)"
     Site            362..382
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95436.3)"
     Site            407..427
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95436.3)"
     Site            485..505
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95436.3)"
     Site            525..545
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95436.3)"
     Site            552..572
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95436.3)"
     CDS             1..689
                     /gene="SLC34A2"
                     /gene_synonym="NAPI-3B; NAPI-IIb; NaPi2b; NPTIIb; PULAM"
                     /coded_by="NM_001177998.2:44..2113"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS54750.1"
                     /db_xref="GeneID:10568"
                     /db_xref="HGNC:HGNC:11020"
                     /db_xref="MIM:604217"
ORIGIN      
        1 mapwpelgda qpnpdkyleg aagqqptapd ksketnknnt eapvtkiell psystatlid
       61 eptevddpwn lptlqdsgik wserdtkgki lcffqgigrl illlgflyff vcsldilssa
      121 fqlvggkmag qffsnssims npllglvigv lvtvlvqsss tstsivvsmv ssslltvraa
      181 ipiimganig tsitntival mqvgdrsefr rafagatvhd ffnwlsvlvl lpvevathyl
      241 eiitqlives fhfkngedap dllkvitkpf tklivqldkk visqiamnde kaknkslvki
      301 wcktftnktq invtvpstan ctspslcwtd giqnwtmknv tykeniakcq hifvnfhlpd
      361 lavgtillil sllvlcgcli mivkilgsvl kgqvatvikk tintdfpfpf awltgylail
      421 vgagmtfivq sssvftsalt pligigviti eraypltlgs nigttttail aalaspgnal
      481 rsslqialch fffnisgill wypipftrlp irmakglgni sakyrwfavf yliiffflip
      541 ltvfglslag wrvlvgvgvp vvfiiilvlc lrllqsrcpr vlpkklqnwn flplwmrslk
      601 pwdavvskft gcfqmrcccc crvccraccl lcdcpkccrc skccedleea qegqdvpvka
      661 petfdnitis reaqgevpas dsktectal
//
LOCUS       NP_001373514             575 aa            linear   PRI 22-JAN-2023
DEFINITION  SH2 domain-containing protein 3A isoform 4 [Homo sapiens].
ACCESSION   NP_001373514
VERSION     NP_001373514.1
DBSOURCE    REFSEQ: accession NM_001386585.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 575)
  AUTHORS   Dolliver SM, Kleer M, Bui-Marinos MP, Ying S, Corcoran JA and
            Khaperskyy DA.
  TITLE     Nsp1 proteins of human coronaviruses HCoV-OC43 and SARS-CoV2
            inhibit stress granule formation
  JOURNAL   PLoS Pathog 18 (12), e1011041 (2022)
   PUBMED   36534661
  REMARK    GeneRIF: Nsp1 proteins of human coronaviruses HCoV-OC43 and
            SARS-CoV2 inhibit stress granule formation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 575)
  AUTHORS   Kennedy SA, Jarboui MA, Srihari S, Raso C, Bryan K, Dernayka L,
            Charitou T, Bernal-Llinares M, Herrera-Montavez C, Krstic A,
            Matallanas D, Kotlyar M, Jurisica I, Curak J, Wong V, Stagljar I,
            LeBihan T, Imrie L, Pillai P, Lynn MA, Fasterius E, Al-Khalili
            Szigyarto C, Breen J, Kiel C, Serrano L, Rauch N, Rukhlenko O,
            Kholodenko BN, Iglesias-Martinez LF, Ryan CJ, Pilkington R,
            Cammareri P, Sansom O, Shave S, Auer M, Horn N, Klose F, Ueffing M,
            Boldt K, Lynn DJ and Kolch W.
  TITLE     Extensive rewiring of the EGFR network in colorectal cancer cells
            expressing transforming levels of KRASG13D
  JOURNAL   Nat Commun 11 (1), 499 (2020)
   PUBMED   31980649
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 575)
  AUTHORS   Petschnigg J, Groisman B, Kotlyar M, Taipale M, Zheng Y, Kurat CF,
            Sayad A, Sierra JR, Mattiazzi Usaj M, Snider J, Nachman A,
            Krykbaeva I, Tsao MS, Moffat J, Pawson T, Lindquist S, Jurisica I
            and Stagljar I.
  TITLE     The mammalian-membrane two-hybrid assay (MaMTH) for probing
            membrane-protein interactions in human cells
  JOURNAL   Nat Methods 11 (5), 585-592 (2014)
   PUBMED   24658140
REFERENCE   4  (residues 1 to 575)
  AUTHORS   Near RI, Zhang Y, Makkinje A, Vanden Borre P and Lerner A.
  TITLE     AND-34/BCAR3 differs from other NSP homologs in induction of
            anti-estrogen resistance, cyclin D1 promoter activation and altered
            breast cancer cell morphology
  JOURNAL   J Cell Physiol 212 (3), 655-665 (2007)
   PUBMED   17427198
  REMARK    GeneRIF: NSP1 overexpression did not induce anti-estrogen
            resistance in breast tumor cell lines.
REFERENCE   5  (residues 1 to 575)
  AUTHORS   Vervoort VS, Roselli S, Oshima RG and Pasquale EB.
  TITLE     Splice variants and expression patterns of SHEP1, BCAR3 and NSP1, a
            gene family involved in integrin and receptor tyrosine kinase
            signaling
  JOURNAL   Gene 391 (1-2), 161-170 (2007)
   PUBMED   17270363
  REMARK    GeneRIF: NSP1 and BCAR3 are more highly expressed than SH2D3C
            (SHEP1) in breast cancer cells, and the expression patterns suggest
            differential roles for the three genes during breast cancer
            progression.
REFERENCE   6  (residues 1 to 575)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   7  (residues 1 to 575)
  AUTHORS   Lu Y, Brush J and Stewart TA.
  TITLE     NSP1 defines a novel family of adaptor proteins linking integrin
            and tyrosine kinase receptors to the c-Jun N-terminal
            kinase/stress-activated protein kinase signaling pathway
  JOURNAL   J Biol Chem 274 (15), 10047-10052 (1999)
   PUBMED   10187783
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC020954.8 and AC008760.7.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1286124.1,
                                           SRR12921934.1846771.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..575
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..575
                     /product="SH2 domain-containing protein 3A isoform 4"
                     /note="novel SH2-containing protein 1; SH2
                     domain-containing protein 3A"
                     /calculated_mol_wt=62833
     Region          8..143
                     /region_name="SH2_BCAR3"
                     /note="Src homology 2 (SH2) domain in the Breast Cancer
                     Anti-estrogen Resistance protein 3; cd10337"
                     /db_xref="CDD:198200"
     Site            order(22,38,59,61)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198200"
     Site            order(60,95)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198200"
     Site            123
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BRG2.1)"
     Site            125
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9BRG2.1)"
     Region          145..165
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BRG2.1)"
     Site            147
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BRG2.1)"
     Site            179
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9BRG2.1)"
     Site            200
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BRG2.1)"
     Region          203..226
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BRG2.1)"
     Region          308..>457
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases. Small GTP-binding proteins of the Ras
                     superfamily function as molecular switches in fundamental
                     events such as signal transduction, cytoskeleton dynamics
                     and intracellular trafficking; cl02485"
                     /db_xref="CDD:445797"
     Site            order(343..345,359..360,362..364,366..367,370..371,374,
                     410,413..414,416..418,420..423,425..426,450,453,472..474,
                     477..479,481..483,485..488,495,499,532)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     CDS             1..575
                     /gene="SH2D3A"
                     /gene_synonym="NSP1"
                     /coded_by="NM_001386585.1:118..1845"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:10045"
                     /db_xref="HGNC:HGNC:16885"
                     /db_xref="MIM:604721"
ORIGIN      
        1 mqvpqdgedl agqpwyhgll srqkaeallq qngdflvras gsrggnpvis crwrgsalhf
       61 evfrvalrpr pgrptalfql edeqfpsipa lvhsymtgrr plsqatgavv srpvtwqgpl
      121 rrsfsedtlm dgparieplr arkwsnsqpa dlahmgrsre dpagmastmp isalprtssd
      181 pvllkapapl gtvadslras dgqlqakapt kpprtpsfel pdaserppty celvprvpsv
      241 qgtspsqscp epeapwweae edeeeenrcf trpqaeisfc phdapscllg pqnrplepqv
      301 lhtlrglfle hhpgstalhl llvdcqatgl lgvtrdqrgn mgvssglell tlphghhlrl
      361 ellerhqtla lagalavlgc sgpleeraaa lrglvelala lrpgaagdlp glaavmgall
      421 mpqvsrleht wrqlrrshte aalafeqelk plmraldega gpcdpgeval phvapmvrll
      481 egeevagpld escerllrtl hgarhmvrda pkfrkvaaqr lrgfrpnpel realttgfvr
      541 rllwgsrgag apraerfekf qrvlgvlsqr lepdr
//
LOCUS       NP_001374835             882 aa            linear   PRI 29-JAN-2023
DEFINITION  epithelial discoidin domain-containing receptor 1 isoform 7
            precursor [Homo sapiens].
ACCESSION   NP_001374835
VERSION     NP_001374835.1
DBSOURCE    REFSEQ: accession NM_001387906.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 882)
  AUTHORS   Silva ME, Hernandez-Andrade M, Abasolo N, Espinoza-Cruells C,
            Mansilla JB, Reyes CR, Aranda S, Esteban Y, Rodriguez-Calvo R,
            Martorell L, Muntane G, Rivera FJ and Vilella E.
  TITLE     DDR1 and Its Ligand, Collagen IV, Are Involved in In Vitro
            Oligodendrocyte Maturation
  JOURNAL   Int J Mol Sci 24 (2), 1742 (2023)
   PUBMED   36675255
  REMARK    GeneRIF: DDR1 and Its Ligand, Collagen IV, Are Involved in In Vitro
            Oligodendrocyte Maturation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 882)
  AUTHORS   Duan X, Xu X, Zhang Y, Gao Y, Zhou J and Li J.
  TITLE     DDR1 functions as an immune negative factor in colorectal cancer by
            regulating tumor-infiltrating T cells through IL-18
  JOURNAL   Cancer Sci 113 (11), 3672-3685 (2022)
   PUBMED   35969377
  REMARK    GeneRIF: DDR1 functions as an immune negative factor in colorectal
            cancer by regulating tumor-infiltrating T cells through IL-18.
REFERENCE   3  (residues 1 to 882)
  AUTHORS   Gonzalez-Molina J, Kirchhof KM, Rathod B, Moyano-Galceran L,
            Calvo-Noriega M, Kokaraki G, Bjorkoy A, Ehnman M, Carlson JW and
            Lehti K.
  TITLE     Mechanical Confinement and DDR1 Signaling Synergize to Regulate
            Collagen-Induced Apoptosis in Rhabdomyosarcoma Cells
  JOURNAL   Adv Sci (Weinh) 9 (28), e2202552 (2022)
   PUBMED   35957513
  REMARK    GeneRIF: Mechanical Confinement and DDR1 Signaling Synergize to
            Regulate Collagen-Induced Apoptosis in Rhabdomyosarcoma Cells.
REFERENCE   4  (residues 1 to 882)
  AUTHORS   Li X, Li Q, Xiong B, Chen H, Wang X and Zhang D.
  TITLE     Discoidin domain receptor 1(DDR1) promote intestinal barrier
            disruption in Ulcerative Colitis through tight junction proteins
            degradation and epithelium apoptosis
  JOURNAL   Pharmacol Res 183, 106368 (2022)
   PUBMED   35905891
  REMARK    GeneRIF: Discoidin domain receptor 1(DDR1) promote intestinal
            barrier disruption in Ulcerative Colitis through tight junction
            proteins degradation and epithelium apoptosis.
REFERENCE   5  (residues 1 to 882)
  AUTHORS   Wang S, Fu Y, Kuerban K, Liu J, Huang X, Pan D, Chen H, Zhu Y and
            Ye L.
  TITLE     Discoidin domain receptor 1 is a potential target correlated with
            tumor invasion and immune infiltration in gastric cancer
  JOURNAL   Front Immunol 13, 933165 (2022)
   PUBMED   35935941
  REMARK    GeneRIF: Discoidin domain receptor 1 is a potential target
            correlated with tumor invasion and immune infiltration in gastric
            cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 882)
  AUTHORS   Alves F, Saupe S, Ledwon M, Schaub F, Hiddemann W and Vogel WF.
  TITLE     Identification of two novel, kinase-deficient variants of discoidin
            domain receptor 1: differential expression in human colon cancer
            cell lines
  JOURNAL   FASEB J 15 (7), 1321-1323 (2001)
   PUBMED   11344127
REFERENCE   7  (residues 1 to 882)
  AUTHORS   Shelling AN, Butler R, Jones T, Laval S, Boyle JM and Ganesan TS.
  TITLE     Localization of an epithelial-specific receptor kinase (EDDR1) to
            chromosome 6q16
  JOURNAL   Genomics 25 (2), 584-587 (1995)
   PUBMED   7789998
REFERENCE   8  (residues 1 to 882)
  AUTHORS   Edelhoff S, Sweetser DA and Disteche CM.
  TITLE     Mapping of the NEP receptor tyrosine kinase gene to human
            chromosome 6p21.3 and mouse chromosome 17C
  JOURNAL   Genomics 25 (1), 309-311 (1995)
   PUBMED   7774938
REFERENCE   9  (residues 1 to 882)
  AUTHORS   Laval S, Butler R, Shelling AN, Hanby AM, Poulsom R and Ganesan TS.
  TITLE     Isolation and characterization of an epithelial-specific receptor
            tyrosine kinase from an ovarian cancer cell line
  JOURNAL   Cell Growth Differ 5 (11), 1173-1183 (1994)
   PUBMED   7848919
REFERENCE   10 (residues 1 to 882)
  AUTHORS   Weiner TM, Liu ET, Craven RJ and Cance WG.
  TITLE     Expression of growth factor receptors, the focal adhesion kinase,
            and other tyrosine kinases in human soft tissue tumors
  JOURNAL   Ann Surg Oncol 1 (1), 18-27 (1994)
   PUBMED   7834423
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL662870.16.
            
            Summary: Receptor tyrosine kinases play a key role in the
            communication of cells with their microenvironment. These kinases
            are involved in the regulation of cell growth, differentiation and
            metabolism. The protein encoded by this gene belongs to a subfamily
            of tyrosine kinase receptors with homology to Dictyostelium
            discoideum protein discoidin I in their extracellular domain, and
            that are activated by various types of collagen. Expression of this
            protein is restricted to epithelial cells, particularly in the
            kidney, lung, gastrointestinal tract, and brain. In addition, it
            has been shown to be significantly overexpressed in several human
            tumors. Alternatively spliced transcript variants encoding
            different isoforms have been described for this gene. [provided by
            RefSeq, Feb 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.704492.1,
                                           SRR14038194.1668963.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..882
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     Protein         1..882
                     /product="epithelial discoidin domain-containing receptor
                     1 isoform 7 precursor"
                     /EC_number="2.7.10.1"
                     /note="cell adhesion kinase; neurotrophic tyrosine kinase,
                     receptor, type 4; neuroepithelial tyrosine kinase; PTK3A
                     protein tyrosine kinase 3A; epithelial discoidin
                     domain-containing receptor 1; tyrosine kinase DDR; mammary
                     carcinoma kinase 10; tyrosine-protein kinase CAK;
                     protein-tyrosine kinase RTK-6; CD167 antigen-like family
                     member A"
                     /calculated_mol_wt=95891
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1970
     Region          60..184
                     /region_name="FA58C"
                     /note="Coagulation factor 5/8 C-terminal domain, discoidin
                     domain; Cell surface-attached carbohydrate-binding domain,
                     present in eukaryotes and assumed to have horizontally
                     transferred to eubacterial genomes; cd00057"
                     /db_xref="CDD:238014"
     Site            order(74,105,113)
                     /site_type="other"
                     /note="sugar binding site [chemical binding]"
                     /db_xref="CDD:238014"
     Region          567..876
                     /region_name="PTKc_DDR1"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Discoidin Domain Receptor 1; cd05096"
                     /db_xref="CDD:133227"
     Site            order(579..583,587,616,618,670..673,676..677,735,739..740,
                     742,753,771..775,784,819)
                     /site_type="active"
                     /db_xref="CDD:133227"
     Site            order(579..580,582..583,587,616,618,670..673,676..677,
                     739..740,742,753)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133227"
     Site            order(735,739,771..775,784,819)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133227"
     Site            752..777
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133227"
     CDS             1..882
                     /gene="DDR1"
                     /gene_synonym="CAK; CD167; DDR; EDDR1; HGK2; MCK10; NEP;
                     NTRK4; PTK3; PTK3A; RTK6; TRKE"
                     /coded_by="NM_001387906.1:235..2883"
                     /note="isoform 7 precursor is encoded by transcript
                     variant 24"
                     /db_xref="GeneID:780"
                     /db_xref="HGNC:HGNC:2730"
                     /db_xref="MIM:600408"
ORIGIN      
        1 mgpealssll llllvasgda dmkghfdpak cryalgmqdr tipdsdisas sswsdstaar
       61 hsrlessdgd gawcpagsvf pkeeeylqvd lqrlhlvalv gtqgrhaggl gkefsrsyrl
      121 rysrdgrrwm gwkdrwgqev isgnedpegv vlkdlgppmv arlvrfypra drvmsvclrv
      181 elygclwrdg llsytapvgq tmylseavyl ndstydghtv gglqygglgq ladgvvgldd
      241 frksqelrvw pgydyvgwsn hsfssgyvem efefdrlraf qamqvhcnnm htlgarlpgg
      301 vecrfrrgpa mawegepmrh nlggnlgdpr aravsvplgg rvarflqcrf lfagpwllfs
      361 eisfisdvvn nsspalggtf ppapwwppgp pptnfsslel eprgqqpvak aegsptaili
      421 gclvaiilll lliialmlwr lhwrrllska errvleeelt vhlsvpgdti linnrpgpre
      481 pppyqeprpr gnpphsapcv pngsaysgdy mepekpgapl lppppqnsvp hyaeadivtl
      541 qgvtggntya vpalppgavg dgpprvdfpr srlrfkeklg egqfgevhlc evdspqdlvs
      601 ldfplnvrkg hpllvavkil rpdatknasf slfsrndflk evkimsrlkd pniirllgvc
      661 vqddplcmit dymengdlnq flsahqledk aaegapgdgq aaqgptisyp mllhvaaqia
      721 sgmrylatln fvhrdlatrn clvgenftik iadfgmsrnl yagdyyrvqg ravlpirwma
      781 wecilmgkft tasdvwafgv tlwevlmlcr aqpfgqltde qvienageff rdqgrqvyls
      841 rppacpqgly elmlrcwsre seqrppfsql hrflaedaln tv
//
LOCUS       NP_002730                697 aa            linear   PRI 12-MAR-2023
DEFINITION  protein kinase C gamma type isoform 2 [Homo sapiens].
ACCESSION   NP_002730
VERSION     NP_002730.1
DBSOURCE    REFSEQ: accession NM_002739.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 697)
  AUTHORS   Xu Z, Li Q and Shen X.
  TITLE     AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes
            affecting the severity of acute mountain sickness
  JOURNAL   BMC Med Genomics 16 (1), 28 (2023)
   PUBMED   36803152
  REMARK    GeneRIF: AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate
            genes affecting the severity of acute mountain sickness.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 697)
  AUTHORS   Gan Y, Long J, Zeng Y, Zhang Y and Tao Y.
  TITLE     lncRNA IL-17RA-1 Attenuates LPS-Induced Sepsis via
            miR-7847-3p/PRKCG-Mediated MAPK Signaling Pathway
  JOURNAL   Mediators Inflamm 2022, 9923204 (2022)
   PUBMED   36274974
  REMARK    GeneRIF: lncRNA IL-17RA-1 Attenuates LPS-Induced Sepsis via
            miR-7847-3p/PRKCG-Mediated MAPK Signaling Pathway.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 697)
  AUTHORS   Tada Y, Kume K, Noguchi S, Sekiya T, Nishinaka K, Ishiguchi H, Koh
            J, Emori S, Nakayama Y, Kurashige T, Izumi Y, Ito H, Sakai N and
            Kawakami H.
  TITLE     Comparison of two families with and without ataxia harboring novel
            variants in PRKCG
  JOURNAL   J Hum Genet 67 (10), 595-599 (2022)
   PUBMED   35760954
  REMARK    GeneRIF: Comparison of two families with and without ataxia
            harboring novel variants in PRKCG.
            Erratum:[J Hum Genet. 2022 Jul 7;:. PMID: 35794208]
REFERENCE   4  (residues 1 to 697)
  AUTHORS   Wu QW and Kapfhammer JP.
  TITLE     The Emerging Key Role of the mGluR1-PKCgamma Signaling Pathway in
            the Pathogenesis of Spinocerebellar Ataxias: A Neurodevelopmental
            Viewpoint
  JOURNAL   Int J Mol Sci 23 (16), 9169 (2022)
   PUBMED   36012439
  REMARK    GeneRIF: The Emerging Key Role of the mGluR1-PKCgamma Signaling
            Pathway in the Pathogenesis of Spinocerebellar Ataxias: A
            Neurodevelopmental Viewpoint.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 697)
  AUTHORS   Chen,D.H., Bird,T.D. and Raskind,W.H.
  TITLE     Spinocerebellar Ataxia Type 14
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301573
REFERENCE   6  (residues 1 to 697)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
REFERENCE   7  (residues 1 to 697)
  AUTHORS   McSwine-Kennick RL, McKeegan EM, Johnson MD and Morin MJ.
  TITLE     Phorbol diester-induced alterations in the expression of protein
            kinase C isozymes and their mRNAs. Analysis in wild-type and
            phorbol diester-resistant HL-60 cell clones
  JOURNAL   J Biol Chem 266 (23), 15135-15143 (1991)
   PUBMED   1714454
REFERENCE   8  (residues 1 to 697)
  AUTHORS   Jakobovits A, Rosenthal A and Capon DJ.
  TITLE     Trans-activation of HIV-1 LTR-directed gene expression by tat
            requires protein kinase C
  JOURNAL   EMBO J 9 (4), 1165-1170 (1990)
   PUBMED   2182321
  REMARK    Erratum:[EMBO J 1990 Oct;9(10):3413]
REFERENCE   9  (residues 1 to 697)
  AUTHORS   Saunders AM and Seldin MF.
  TITLE     The syntenic relationship of proximal mouse chromosome 7 and the
            myotonic dystrophy gene region on human chromosome 19q
  JOURNAL   Genomics 6 (2), 324-332 (1990)
   PUBMED   2307474
REFERENCE   10 (residues 1 to 697)
  AUTHORS   Johnson KJ, Jones PJ, Spurr N, Nimmo E, Davies J, Creed H, Weiss M
            and Williamson R.
  TITLE     Linkage relationships of the protein kinase C gamma gene which
            exclude it as a candidate for myotonic dystrophy
  JOURNAL   Cytogenet Cell Genet 48 (1), 13-15 (1988)
   PUBMED   2460293
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC318717.1, BC047876.1 and
            AC008440.9.
            
            Summary: Protein kinase C (PKC) is a family of serine- and
            threonine-specific protein kinases that can be activated by calcium
            and second messenger diacylglycerol. PKC family members
            phosphorylate a wide variety of protein targets and are known to be
            involved in diverse cellular signaling pathways. PKC also serve as
            major receptors for phorbol esters, a class of tumor promoters.
            Each member of the PKC family has a specific expression profile and
            is believed to play distinct roles in cells. The protein encoded by
            this gene is one of the PKC family members. This protein kinase is
            expressed solely in the brain and spinal cord and its localization
            is restricted to neurons. It has been demonstrated that several
            neuronal functions, including long term potentiation (LTP) and long
            term depression (LTD), specifically require this kinase. Knockout
            studies in mice also suggest that this kinase may be involved in
            neuropathic pain development. Defects in this protein have been
            associated with neurodegenerative disorder spinocerebellar
            ataxia-14 (SCA14). Two transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Oct
            2015].
            
            Transcript Variant: This variant (2) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (2)
            has a shorter and distinct C-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.912204.1,
                                           SRR3476690.862624.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263431.4/ ENSP00000263431.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..697
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..697
                     /product="protein kinase C gamma type isoform 2"
                     /EC_number="2.7.11.13"
                     /note="protein kinase C gamma type"
                     /calculated_mol_wt=78317
     Region          34..91
                     /region_name="C1_cPKC_rpt1"
                     /note="first protein kinase C conserved region 1 (C1
                     domain) found in the classical (or conventional) protein
                     kinase C (cPKC) family; cd20833"
                     /db_xref="CDD:410383"
     Site            order(41..47,55..59,62)
                     /site_type="other"
                     /note="putative DAG/PE binding site [chemical binding]"
                     /db_xref="CDD:410383"
     Region          101..154
                     /region_name="C1_cPKC_rpt2"
                     /note="second protein kinase C conserved region 1 (C1
                     domain) found in the classical (or conventional) protein
                     kinase C (cPKC) family; cd20836"
                     /db_xref="CDD:410386"
     Site            order(106..112,120..124,127)
                     /site_type="other"
                     /note="putative DAG/PE binding site [chemical binding]"
                     /db_xref="CDD:410386"
     Region          158..289
                     /region_name="C2_PKC_alpha_gamma"
                     /note="C2 domain in Protein Kinase C (PKC) alpha and
                     gamma; cd04026"
                     /db_xref="CDD:175992"
     Site            order(187,193,246,248,254)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:175992"
     Site            250
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (P05129.3)"
     Site            320
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P63318; propagated from
                     UniProtKB/Swiss-Prot (P05129.3)"
     Site            322
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P63318; propagated from
                     UniProtKB/Swiss-Prot (P05129.3)"
     Site            326
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P63318; propagated from
                     UniProtKB/Swiss-Prot (P05129.3)"
     Site            328
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P63318; propagated from
                     UniProtKB/Swiss-Prot (P05129.3)"
     Site            330
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P63318; propagated from
                     UniProtKB/Swiss-Prot (P05129.3)"
     Site            332
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P63318; propagated from
                     UniProtKB/Swiss-Prot (P05129.3)"
     Region          354..677
                     /region_name="STKc_cPKC"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Classical (or Conventional) Protein Kinase C; cd05587"
                     /db_xref="CDD:270739"
     Site            order(357..361,365,378,380,418,434..435,437,441,443,480,
                     482,484..485,487,497..498,501,515..520,547,553,556)
                     /site_type="active"
                     /db_xref="CDD:270739"
     Site            order(357..361,365,378,380,418,435..437,441,480,482,
                     484..485,487,497..498)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270739"
     Site            order(361,441,443,480,482,484,501,515..520,547,553,556)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270739"
     Site            373
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P63318; propagated from
                     UniProtKB/Swiss-Prot (P05129.3)"
     Site            497..520
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270739"
     Site            514
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PDPK1.
                     /evidence=ECO:0000250|UniProtKB:P63318; propagated from
                     UniProtKB/Swiss-Prot (P05129.3)"
     Site            648
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P05129.3)"
     Site            655
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000250|UniProtKB:P63318; propagated from
                     UniProtKB/Swiss-Prot (P05129.3)"
     Site            655
                     /site_type="other"
                     /note="turn motif phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:270739"
     Site            670..675
                     /site_type="other"
                     /note="hydrophobic motif (HM)"
                     /db_xref="CDD:270739"
     Site            674
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000250|UniProtKB:P63318; propagated from
                     UniProtKB/Swiss-Prot (P05129.3)"
     Site            675
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by SYK. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P05129.3)"
     Site            687
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P63319; propagated from
                     UniProtKB/Swiss-Prot (P05129.3)"
     CDS             1..697
                     /gene="PRKCG"
                     /gene_synonym="PKC-gamma; PKCC; PKCG; PKCgamma; PKCI(3);
                     SCA14"
                     /coded_by="NM_002739.5:299..2392"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS12867.1"
                     /db_xref="GeneID:5582"
                     /db_xref="HGNC:HGNC:9402"
                     /db_xref="MIM:176980"
ORIGIN      
        1 maglgpgvgd seggprplfc rkgalrqkvv hevkshkfta rffkqptfcs hctdfiwgig
       61 kqglqcqvcs fvvhrrchef vtfecpgagk gpqtddprnk hkfrlhsyss ptfcdhcgsl
      121 lyglvhqgmk csccemnvhr rcvrsvpslc gvdhterrgr lqleirapta deihvtvgea
      181 rnlipmdpng lsdpyvklkl ipdprnltkq ktrtvkatln pvwnetfvfn lkpgdverrl
      241 svevwdwdrt srndfmgams fgvsellkap vdgwykllnq eegeyynvpv adadncsllq
      301 kfeacnyple lyervrmgps sspipspsps ptdpkrcffg aspgrlhisd fsflmvlgkg
      361 sfgkvmlaer rgsdelyaik ilkkdvivqd ddvdctlvek rvlalggrgp ggrphfltql
      421 hstfqtpdrl yfvmeyvtgg dlmyhiqqlg kfkephaafy aaeiaiglff lhnqgiiyrd
      481 lkldnvmlda eghikitdfg mckenvfpgt ttrtfcgtpd yiapeiiayq pygksvdwws
      541 fgvllyemla gqppfdgede eelfqaimeq tvtypkslsr eavaickgfl tkhpgkrlgs
      601 gpdgeptira hgffrwidwe rlerleippp frprpcgrsg enfdkfftra apaltppdrl
      661 vlasidqadf qgftyvnpdf vhpdarspts pvpvpvm
//
LOCUS       NP_000508                142 aa            linear   PRI 12-MAR-2023
DEFINITION  hemoglobin subunit alpha [Homo sapiens].
ACCESSION   NP_000508
VERSION     NP_000508.1
DBSOURCE    REFSEQ: accession NM_000517.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 142)
  AUTHORS   Li Y, Liang L, Guo W, Wu X, Qin T and Tian M.
  TITLE     Identification of a novel 107 kb deletion in the alpha-globin gene
            cluster using third-generation sequencing
  JOURNAL   Clin Biochem 113, 36-39 (2023)
   PUBMED   36572139
  REMARK    GeneRIF: Identification of a novel 107 kb deletion in the
            alpha-globin gene cluster using third-generation sequencing.
REFERENCE   2  (residues 1 to 142)
  AUTHORS   Yao C, Qin D, Wang J, Bao X, Liang J and Du L.
  TITLE     First study to describe a novel HbA2: c.400A > C mutation and Hb
            Dongguan heterozygote in two unrelated Chinese families
  JOURNAL   Hematology 27 (1), 867-873 (2022)
   PUBMED   35938954
  REMARK    GeneRIF: First study to describe a novel HbA2: c.400A > C mutation
            and Hb Dongguan heterozygote in two unrelated Chinese families.
REFERENCE   3  (residues 1 to 142)
  AUTHORS   Phasit A, Panyasai S, Mayoon M, Jettawan N and Satthakarn S.
  TITLE     Phenotypic Expression of Known and Novel Hemoglobin A2-Variants,
            Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G],
            Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A]
            in Thailand
  JOURNAL   Genes (Basel) 13 (6), 959 (2022)
   PUBMED   35741722
  REMARK    GeneRIF: Phenotypic Expression of Known and Novel Hemoglobin
            A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp &gt; Gly,
            HBD:c.158A &gt; G], Associated with Hemoglobin E [Beta 26(B8) Glu
            &gt; Lys, HBB:c.79G &gt; A] in Thailand.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 142)
  AUTHORS   Filser M, Gardie B, Wemeau M, Aguilar-Martinez P, Giansily-Blaizot
            M and Girodon F.
  TITLE     Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the
            Diagnosis of High Oxygen Affinity Hemoglobin
  JOURNAL   Genes (Basel) 13 (1), 132 (2022)
   PUBMED   35052472
  REMARK    GeneRIF: Importance of Sequencing HBA1, HBA2 and HBB Genes to
            Confirm the Diagnosis of High Oxygen Affinity Hemoglobin.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 142)
  AUTHORS   Ghassemifar R, Forster L, Qadah T and Finlayson J.
  TITLE     Identification and characterization of two novel and differentially
            expressed isoforms of human alpha2- and alpha1-globin genes
  JOURNAL   Hemoglobin 36 (5), 421-432 (2012)
   PUBMED   22738435
  REMARK    GeneRIF: This study, for the first time, confirms the presence of
            two isoforms for both the alpha2- and alpha1-globin genes with
            varying transcription levels in healthy individuals.
REFERENCE   6  (residues 1 to 142)
  AUTHORS   Tamary,H. and Dgany,O.
  TITLE     Alpha-Thalassemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301608
REFERENCE   7  (residues 1 to 142)
  AUTHORS   Liebhaber,S.A., Goossens,M.J. and Kan,Y.W.
  TITLE     Cloning and complete nucleotide sequence of human 5'-alpha-globin
            gene
  JOURNAL   Proc Natl Acad Sci U S A 77 (12), 7054-7058 (1980)
   PUBMED   6452630
REFERENCE   8  (residues 1 to 142)
  AUTHORS   Marinucci,M., Mavilio,F., Massa,A., Gabbianelli,M.,
            Fontanarosa,P.P., Camagna,A., Ignesti,C. and Tentori,L.
  TITLE     A new abnormal human hemoglobin: Hb Prato (alpha 2 31 (B12) Arg
            leads to Ser beta 2)
  JOURNAL   Biochim Biophys Acta 578 (2), 534-540 (1979)
   PUBMED   486536
REFERENCE   9  (residues 1 to 142)
  AUTHORS   Sanguansermsri,T., Matragoon,S., Changloah,L. and Flatz,G.
  TITLE     Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2):
            an unstable variant associated with alpha-thalassemia
  JOURNAL   Hemoglobin 3 (2-3), 161-174 (1979)
   PUBMED   478977
REFERENCE   10 (residues 1 to 142)
  AUTHORS   Moo-Penn,W.F., Jue,D.L., Johnson,M.H., Wilson,S.M., Therrell,B. Jr.
            and Schmidt,R.M.
  TITLE     Hemoglobin Tarrant: alpha126(H9) Asp leads to Asn. A new hemoglobin
            variant in the alpha1beta1 contact region showing high oxygen
            affinity and reduced cooperativity
  JOURNAL   Biochim Biophys Acta 490 (2), 443-451 (1977)
   PUBMED   13856
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from V00493.1, Z84721.1 and
            AI016696.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The human alpha globin gene cluster located on chromosome
            16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta
            - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2
            (HBA2) and alpha-1 (HBA1) coding sequences are identical. These
            genes differ slightly over the 5' untranslated regions and the
            introns, but they differ significantly over the 3' untranslated
            regions. Two alpha chains plus two beta chains constitute HbA,
            which in normal adult life comprises about 97% of the total
            hemoglobin; alpha chains combine with delta chains to constitute
            HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3%
            of adult hemoglobin. Alpha thalassemias result from deletions of
            each of the alpha genes as well as deletions of both HBA2 and HBA1;
            some nondeletion alpha thalassemias have also been reported.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AI816040.1, AI815806.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000251595.11/ ENSP00000251595.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..142
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..142
                     /product="hemoglobin subunit alpha"
                     /note="alpha globin; alpha-2 globin; hemoglobin alpha
                     chain; mutant hemoglobin alpha 2 globin chain; hemoglobin,
                     alpha 2"
                     /calculated_mol_wt=15126
     Region          3..142
                     /region_name="Hb-alpha-like"
                     /note="Hemoglobin alpha, zeta, mu, theta, and related Hb
                     subunits; cd08927"
                     /db_xref="CDD:381263"
     Site            4
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            8
                     /site_type="glycosylation"
                     /note="N-linked (Glc) (glycation) lysine, alternate.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            9..10
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2)"
     Site            9
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            12
                     /site_type="other"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P69905.2)"
     Site            14..15
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2)"
     Site            17
                     /site_type="glycosylation"
                     /note="N-linked (Glc) (glycation) lysine, alternate.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            17
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            25..26
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2)"
     Site            25
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            30..31
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2)"
     Site            order(32,35..36,42..43,93,95..96,104,108,111..112,
                     118..120,123..124,127,141..142)
                     /site_type="other"
                     /note="tetramer interface [polypeptide binding]"
                     /db_xref="CDD:381263"
     Site            order(33,43..44,59,62..63,66,84,88,98..99,102,137)
                     /site_type="other"
                     /note="heme binding site [chemical binding]"
                     /db_xref="CDD:381263"
     Site            36
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            41
                     /site_type="glycosylation"
                     /note="N-linked (Glc) (glycation) lysine, alternate.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            46..47
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2)"
     Site            48..49
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2)"
     Site            50
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            53..54
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2)"
     Site            56..57
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2)"
     Site            57
                     /site_type="other"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P69905.2)"
     Site            60..61
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2)"
     Site            61
                     /site_type="other"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P69905.2)"
     Site            62
                     /site_type="glycosylation"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            91
                     /site_type="other"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P69905.2)"
     Site            92..93
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2)"
     mat_peptide     96..104
                     /product="Hemopressin.
                     /evidence=ECO:0000305|PubMed:18077343. /id=PRO_0000455882"
                     /note="propagated from UniProtKB/Swiss-Prot (P69905.2)"
                     /calculated_mol_wt=1054
     Site            100
                     /site_type="other"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P69905.2)"
     Site            103
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            107..108
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2)"
     Site            109..110
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2)"
     Site            109
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            122..123
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2)"
     Site            125
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            132
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            134..135
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2)"
     Site            135
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            138
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     Site            139
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2)"
     CDS             1..142
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /coded_by="NM_000517.6:38..466"
                     /db_xref="CCDS:CCDS10398.1"
                     /db_xref="GeneID:3040"
                     /db_xref="HGNC:HGNC:4824"
                     /db_xref="MIM:141850"
ORIGIN      
        1 mvlspadktn vkaawgkvga hageygaeal ermflsfptt ktyfphfdls hgsaqvkghg
       61 kkvadaltna vahvddmpna lsalsdlhah klrvdpvnfk llshcllvtl aahlpaeftp
      121 avhasldkfl asvstvltsk yr
//
LOCUS       NP_000378                301 aa            linear   PRI 12-MAR-2023
DEFINITION  mitochondrial carnitine/acylcarnitine carrier protein [Homo
            sapiens].
ACCESSION   NP_000378 XP_946380
VERSION     NP_000378.1
DBSOURCE    REFSEQ: accession NM_000387.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 301)
  AUTHORS   Habib A, Azize NAA, Rahman SA, Yakob Y, Suberamaniam V, Nazri MIBA,
            Abdullah Sani H, Ch'ng GS, Yin LH, Olpin S and Lock-Hock N.
  TITLE     Novel mutations associated with carnitine-acylcarnitine translocase
            and carnitine palmitoyl transferase 2 deficiencies in Malaysia
  JOURNAL   Clin Biochem 98, 48-53 (2021)
   PUBMED   34626609
  REMARK    GeneRIF: Novel mutations associated with carnitine-acylcarnitine
            translocase and carnitine palmitoyl transferase 2 deficiencies in
            Malaysia.
REFERENCE   2  (residues 1 to 301)
  AUTHORS   Gurbuz BB, Yilmaz DY, Ozgul RK, Kosukcu C, Dursun A, Sivri HS,
            Coskun T and Tokatli A.
  TITLE     Clinical and molecular characteristics of carnitineacylcarnitine
            translocase deficiency with c.270delC and a novel c.408C>A variant
  JOURNAL   Turk J Pediatr 63 (4), 691-696 (2021)
   PUBMED   34449152
  REMARK    GeneRIF: Clinical and molecular characteristics of
            carnitineacylcarnitine translocase deficiency with c.270delC and a
            novel c.408C>A variant.
REFERENCE   3  (residues 1 to 301)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 301)
  AUTHORS   Yan HM, Hu H, Ahmed A, Feng BB, Liu J, Jia ZJ and Wang H.
  TITLE     Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G
            and novel c.1A>G mutation: Two case reports and brief literature
            review
  JOURNAL   Medicine (Baltimore) 96 (45), e8549 (2017)
   PUBMED   29137068
  REMARK    GeneRIF: we report the first 2 cases of CACTD identified from the
            mainland China. Apart from a founder mutation c.199-10T>G, we have
            identified a novel c.1A>G mutation. Patients with
            Carnitine-acylcarnitine translocase deficiency with a genotype of
            c.199-10T>G mutation usually presents with a severe clinical
            phenotype. Early recognition and appropriate treatment is crucial
            in this highly lethal disorder.
            Review article
REFERENCE   5  (residues 1 to 301)
  AUTHORS   Valentino A, Calarco A, Di Salle A, Finicelli M, Crispi S, Calogero
            RA, Riccardo F, Sciarra A, Gentilucci A, Galderisi U, Margarucci S
            and Peluso G.
  TITLE     Deregulation of MicroRNAs mediated control of carnitine cycle in
            prostate cancer: molecular basis and pathophysiological
            consequences
  JOURNAL   Oncogene 36 (43), 6030-6040 (2017)
   PUBMED   28671672
  REMARK    GeneRIF: We provide evidence that the downregulation of
            hsa-miR-124-3p, hsa-miR-129-5p and hsa-miR-378 induced an increase
            in both expression and activity of CPT1A, CACT and CrAT in
            malignant prostate cells.
REFERENCE   6  (residues 1 to 301)
  AUTHORS   Huizing M, Wendel U, Ruitenbeek W, Iacobazzi V, IJlst L, Veenhuizen
            P, Savelkoul P, van den Heuvel LP, Smeitink JA, Wanders RJ,
            Trijbels JM and Palmieri F.
  TITLE     Carnitine-acylcarnitine carrier deficiency: identification of the
            molecular defect in a patient
  JOURNAL   J Inherit Metab Dis 21 (3), 262-267 (1998)
   PUBMED   9686371
REFERENCE   7  (residues 1 to 301)
  AUTHORS   Huizing M, Iacobazzi V, Ijlst L, Savelkoul P, Ruitenbeek W, van den
            Heuvel L, Indiveri C, Smeitink J, Trijbels F, Wanders R and
            Palmieri F.
  TITLE     Cloning of the human carnitine-acylcarnitine carrier cDNA and
            identification of the molecular defect in a patient
  JOURNAL   Am J Hum Genet 61 (6), 1239-1245 (1997)
   PUBMED   9399886
REFERENCE   8  (residues 1 to 301)
  AUTHORS   Viggiano L, Iacobazzi V, Marzella R, Cassano C, Rocchi M and
            Palmieri F.
  TITLE     Assignment of the carnitine/acylcarnitine translocase gene (CACT)
            to human chromosome band 3p21.31 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 79 (1-2), 62-63 (1997)
   PUBMED   9533014
REFERENCE   9  (residues 1 to 301)
  AUTHORS   Morales Corado,J.A., Lee,C.U. and Enns,G.M.
  TITLE     Carnitine-Acylcarnitine Translocase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   35862567
REFERENCE   10 (residues 1 to 301)
  AUTHORS   Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J and Bonnefont JP.
  TITLE     Brief report: a deficiency of carnitine-acylcarnitine translocase
            in the inner mitochondrial membrane
  JOURNAL   N Engl J Med 327 (1), 19-23 (1992)
   PUBMED   1598097
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC360427.1, BC001689.2 and
            BQ018220.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 4, 2006 this sequence version replaced XP_946380.1.
            
            Summary: This gene product is one of several closely related
            mitochondrial-membrane carrier proteins that shuttle substrates
            between cytosol and the intramitochondrial matrix space. This
            protein mediates the transport of acylcarnitines into mitochondrial
            matrix for their oxidation by the mitochondrial fatty
            acid-oxidation pathway. Mutations in this gene are associated with
            carnitine-acylcarnitine translocase deficiency, which can cause a
            variety of pathological conditions such as hypoglycemia, cardiac
            arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and
            is usually lethal in new born and infants. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.636810.1,
                                           SRR3476690.258896.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000319017.5/
                                                  ENSP00000326305.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..301
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..301
                     /product="mitochondrial carnitine/acylcarnitine carrier
                     protein"
                     /EC_number="2.7.11.1"
                     /note="solute carrier family 25 (carnitine/acylcarnitine
                     translocase), member 20"
                     /calculated_mol_wt=32813
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (O43772.1)"
     Region          6..103
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          8..99
                     /region_name="Solcar 1"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1)"
     Site            13..31
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1)"
     Site            74..93
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1)"
     Region          106..198
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          108..196
                     /region_name="Solcar 2"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1)"
     Site            113..131
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1)"
     Site            148
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z2Z6; propagated from
                     UniProtKB/Swiss-Prot (O43772.1)"
     Site            157
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z2Z6; propagated from
                     UniProtKB/Swiss-Prot (O43772.1)"
     Site            170
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9Z2Z6; propagated from
                     UniProtKB/Swiss-Prot (O43772.1)"
     Site            171..190
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1)"
     Region          205..294
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          207..293
                     /region_name="Solcar 3"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1)"
     Site            212..230
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1)"
     Site            268..287
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1)"
     CDS             1..301
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /coded_by="NM_000387.6:89..994"
                     /db_xref="CCDS:CCDS2779.1"
                     /db_xref="GeneID:788"
                     /db_xref="HGNC:HGNC:1421"
                     /db_xref="MIM:613698"
ORIGIN      
        1 madqpkpisp lknllaggfg gvclvfvghp ldtvkvrlqt qppslpgqpp mysgtfdcfr
       61 ktlfregitg lyrgmaapii gvtpmfavcf fgfglgkklq qkhpedvlsy pqlfaagmls
      121 gvfttgimtp gerikcllqi qassgeskyt gtldcakkly qefgirgiyk gtvltlmrdv
      181 pasgmyfmty ewlkniftpe gkrvselsap rilvaggiag ifnwavaipp dvlksrfqta
      241 ppgkypngfr dvlrelirde gvtslykgfn avmirafpan aacflgfeva mkflnwatpn
      301 l
//
LOCUS       NP_001354497             469 aa            linear   PRI 14-MAR-2023
DEFINITION  palladin isoform 6 [Homo sapiens].
ACCESSION   NP_001354497
VERSION     NP_001354497.1
DBSOURCE    REFSEQ: accession NM_001367568.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 469)
  AUTHORS   Shu X, Chen M, Liu SY, Yu L, Sun LX, Sun LC and Ran YL.
  TITLE     Palladin promotes cancer stem cell-like properties in lung cancer
            by activating Wnt/Beta-Catenin signaling
  JOURNAL   Cancer Med 12 (4), 4510-4520 (2023)
   PUBMED   36047666
  REMARK    GeneRIF: Palladin promotes cancer stem cell-like properties in lung
            cancer by activating Wnt/Beta-Catenin signaling.
REFERENCE   2  (residues 1 to 469)
  AUTHORS   Zhang T, Song C, Li H, Zheng Y and Zhang Y.
  TITLE     Different Extracellular beta-Amyloid (1-42) Aggregates
            Differentially Impair Neural Cell Adhesion and Neurite Outgrowth
            through Differential Induction of Scaffold Palladin
  JOURNAL   Biomolecules 12 (12), 1808 (2022)
   PUBMED   36551236
  REMARK    GeneRIF: Different Extracellular beta-Amyloid (1-42) Aggregates
            Differentially Impair Neural Cell Adhesion and Neurite Outgrowth
            through Differential Induction of Scaffold Palladin.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 469)
  AUTHORS   Liotta L, Lange S, Maurer HC, Olive KP, Braren R, Pfarr N, Burger
            S, Muckenhuber A, Jesinghaus M, Steiger K, Weichert W, Friess H,
            Schmid R, Algul H, Jost PJ, Ramser J, Fischer C, Quante AS,
            Reichert M and Quante M.
  TITLE     PALLD mutation in a European family conveys a stromal
            predisposition for familial pancreatic cancer
  JOURNAL   JCI Insight 6 (8), 141532 (2021)
   PUBMED   33764904
  REMARK    GeneRIF: PALLD mutation in a European family conveys a stromal
            predisposition for familial pancreatic cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 469)
  AUTHORS   Alexander JI, Vendramini-Costa DB, Francescone R, Luong T,
            Franco-Barraza J, Shah N, Gardiner JC, Nicolas E, Raghavan KS and
            Cukierman E.
  TITLE     Palladin isoforms 3 and 4 regulate cancer-associated fibroblast
            pro-tumor functions in pancreatic ductal adenocarcinoma
  JOURNAL   Sci Rep 11 (1), 3802 (2021)
   PUBMED   33589694
  REMARK    GeneRIF: Palladin isoforms 3 and 4 regulate cancer-associated
            fibroblast pro-tumor functions in pancreatic ductal adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 469)
  AUTHORS   Davidson B, Bock AJ, Holth A and Nymoen DA.
  TITLE     Expression of palladin is associated with disease progression in
            metastatic high-grade serous carcinoma
  JOURNAL   Cytopathology 31 (6), 572-578 (2020)
   PUBMED   32741023
  REMARK    GeneRIF: Expression of palladin is associated with disease
            progression in metastatic high-grade serous carcinoma.
REFERENCE   6  (residues 1 to 469)
  AUTHORS   Ronty MJ, Leivonen SK, Hinz B, Rachlin A, Otey CA, Kahari VM and
            Carpen OM.
  TITLE     Isoform-specific regulation of the actin-organizing protein
            palladin during TGF-beta1-induced myofibroblast differentiation
  JOURNAL   J Invest Dermatol 126 (11), 2387-2396 (2006)
   PUBMED   16794588
  REMARK    GeneRIF: These results identify palladin 4Ig as a novel marker of
            myofibroblast conversion in vitro and in vivo.
REFERENCE   7  (residues 1 to 469)
  AUTHORS   Eberle MA, Pfutzer R, Pogue-Geile KL, Bronner MP, Crispin D, Kimmey
            MB, Duerr RH, Kruglyak L, Whitcomb DC and Brentnall TA.
  TITLE     A new susceptibility locus for autosomal dominant pancreatic cancer
            maps to chromosome 4q32-34
  JOURNAL   Am J Hum Genet 70 (4), 1044-1048 (2002)
   PUBMED   11870593
REFERENCE   8  (residues 1 to 469)
  AUTHORS   Mykkanen OM, Gronholm M, Ronty M, Lalowski M, Salmikangas P, Suila
            H and Carpen O.
  TITLE     Characterization of human palladin, a microfilament-associated
            protein
  JOURNAL   Mol Biol Cell 12 (10), 3060-3073 (2001)
   PUBMED   11598191
REFERENCE   9  (residues 1 to 469)
  AUTHORS   Bang ML, Mudry RE, McElhinny AS, Trombitas K, Geach AJ, Yamasaki R,
            Sorimachi H, Granzier H, Gregorio CC and Labeit S.
  TITLE     Myopalladin, a novel 145-kilodalton sarcomeric protein with
            multiple roles in Z-disc and I-band protein assemblies
  JOURNAL   J Cell Biol 153 (2), 413-427 (2001)
   PUBMED   11309420
REFERENCE   10 (residues 1 to 469)
  AUTHORS   Parast MM and Otey CA.
  TITLE     Characterization of palladin, a novel protein localized to stress
            fibers and cell adhesions
  JOURNAL   J Cell Biol 150 (3), 643-656 (2000)
   PUBMED   10931874
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC080188.6 and AC115538.3.
            
            Summary: This gene encodes a cytoskeletal protein that is required
            for organizing the actin cytoskeleton. The protein is a component
            of actin-containing microfilaments, and it is involved in the
            control of cell shape, adhesion, and contraction. Polymorphisms in
            this gene are associated with a susceptibility to pancreatic cancer
            type 1, and also with a risk for myocardial infarction. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Oct 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.243434.1,
                                           SRR1803616.267692.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..469
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.3"
     Protein         1..469
                     /product="palladin isoform 6"
                     /note="myoneurin; sarcoma antigen NY-SAR-77"
                     /calculated_mol_wt=52009
     Region          87..178
                     /region_name="IgI_1_Palladin_C"
                     /note="First C-terminal immunoglobulin (Ig)-like domain of
                     palladin; member of the I-set of Ig superfamily (IgSF)
                     domains; cd05893"
                     /db_xref="CDD:409474"
     Region          87..90
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409474"
     Region          93..98
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409474"
     Region          103..110
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409474"
     Region          117..123
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409474"
     Region          124..127
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409474"
     Region          134..140
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409474"
     Region          143..153
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409474"
     Region          157..165
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409474"
     Region          167..178
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409474"
     Region          221..311
                     /region_name="IgI_2_Palladin_C"
                     /note="Second C-terminal immunoglobulin (Ig)-like domain
                     of palladin; member of the I-set of Ig superfamily (IgSF)
                     domains; cd20990"
                     /db_xref="CDD:409582"
     Region          221..224
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409582"
     Region          227..232
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409582"
     Region          237..244
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409582"
     Region          251..257
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409582"
     Region          258..261
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409582"
     Region          267..273
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409582"
     Region          276..286
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409582"
     Region          290..298
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409582"
     Region          300..311
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409582"
     Region          320..411
                     /region_name="IgI_Myotilin_C"
                     /note="C-terminal immunoglobulin (Ig)-like domain of
                     myotilin; member of the I-set of Ig superfamily (IgSF)
                     domains; cd05892"
                     /db_xref="CDD:409473"
     Region          320..323
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409473"
     Region          326..331
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409473"
     Region          336..343
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409473"
     Region          350..356
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409473"
     Region          357..360
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409473"
     Region          367..373
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409473"
     Region          376..386
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409473"
     Region          390..398
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409473"
     Region          400..411
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409473"
     CDS             1..469
                     /gene="PALLD"
                     /gene_synonym="CGI-151; CGI151; MYN; PNCA1; SIH002"
                     /coded_by="NM_001367568.1:235..1644"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS93667.1"
                     /db_xref="GeneID:23022"
                     /db_xref="HGNC:HGNC:17068"
                     /db_xref="MIM:608092"
ORIGIN      
        1 marrllgads atvfniqepe eetanqdigs phasvgspld gqkeykvssc eqrliseiey
       61 rlerspvdes gdevqygdvp vengmapffe mklkhykife gmpvtftcrv agnpkpkiyw
      121 fkdgkqispk sdhytiqrdl dgtcslhtta stldddgnyt imaanpqgri sctgrlmvqa
      181 vnqrgrsprs psghphvrrp rsrsrdsgde nepiqerffr phflqapgdl tvqegklcrm
      241 dckvsglptp dlswqldgkp vrpdsahkml vrengvhsli iepvtsrdag iytciatnra
      301 gqnsfslelv vaakeahkpp vfieklqntg vadgypvrle crvlgvpppq ifwkkenesl
      361 thstdrvsmh qdnhgyicll iqgatkedag wytvsaknea givsctarld vytqwhqqsq
      421 stkpkkvrps asryaalsdq gldikaafqp eanpshltln talvesedl
//
LOCUS       NP_001307262             742 aa            linear   PRI 14-MAR-2023
DEFINITION  Fc receptor-like protein 3 isoform 3 precursor [Homo sapiens].
ACCESSION   NP_001307262
VERSION     NP_001307262.1
DBSOURCE    REFSEQ: accession NM_001320333.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 742)
  AUTHORS   Zhong Z, Shi D, Xiao M, Fu D, Feng S, Kong Q, Li J and Li Z.
  TITLE     Expression profile of Fc receptor-like molecules in patients with
            IgA nephropathy
  JOURNAL   Hum Immunol 82 (3), 186-192 (2021)
   PUBMED   33597097
  REMARK    GeneRIF: Expression profile of Fc receptor-like molecules in
            patients with IgA nephropathy.
REFERENCE   2  (residues 1 to 742)
  AUTHORS   Cui X, Liu CM and Liu QB.
  TITLE     FCRL3 promotes IL-10 expression in B cells through the SHP-1 and
            p38 MAPK signaling pathways
  JOURNAL   Cell Biol Int 44 (9), 1811-1819 (2020)
   PUBMED   32374464
  REMARK    GeneRIF: FCRL3 promotes IL-10 expression in B cells through the
            SHP-1 and p38 MAPK signaling pathways.
REFERENCE   3  (residues 1 to 742)
  AUTHORS   Agarwal S, Kraus Z, Dement-Brown J, Alabi O, Starost K and Tolnay
            M.
  TITLE     Human Fc Receptor-like 3 Inhibits Regulatory T Cell Function and
            Binds Secretory IgA
  JOURNAL   Cell Rep 30 (5), 1292-1299 (2020)
   PUBMED   32023449
  REMARK    GeneRIF: Human Fc Receptor-like 3 Inhibits Regulatory T Cell
            Function and Binds Secretory IgA.
REFERENCE   4  (residues 1 to 742)
  AUTHORS   Zhang H, He Y, He X, Wang L, Jin T and Yuan D.
  TITLE     Three SNPs of FCRL3 and one SNP of MTMR3 are associated with
            immunoglobulin A nephropathy risk
  JOURNAL   Immunobiology 225 (1), 151869 (2020)
   PUBMED   31780315
  REMARK    GeneRIF: Three SNPs of FCRL3 and one SNP of MTMR3 are associated
            with immunoglobulin A nephropathy risk.
REFERENCE   5  (residues 1 to 742)
  AUTHORS   Zhong Z, Feng S, Shi D, Xu R, Yin P, Wang M, Mao H, Huang F, Li Z,
            Yu X and Li M.
  TITLE     Association of FCRL3 Gene Polymorphisms with IgA Nephropathy in a
            Chinese Han Population
  JOURNAL   DNA Cell Biol 38 (10), 1155-1165 (2019)
   PUBMED   31433201
  REMARK    GeneRIF: The results indicate that FCRL3 gene polymorphisms are
            associated with the development and progression of IgA nephropathy
            (IgAN) in a Chinese Han population, and the rs11264794-A allele
            showed a protective role for IgAN due to reduced specific binding
            between miR-183-5p.1 and FCRL3 3'-untranslated region.
REFERENCE   6  (residues 1 to 742)
  AUTHORS   Kochi Y, Yamada R, Suzuki A, Harley JB, Shirasawa S, Sawada T, Bae
            SC, Tokuhiro S, Chang X, Sekine A, Takahashi A, Tsunoda T, Ohnishi
            Y, Kaufman KM, Kang CP, Kang C, Otsubo S, Yumura W, Mimori A, Koike
            T, Nakamura Y, Sasazuki T and Yamamoto K.
  TITLE     A functional variant in FCRL3, encoding Fc receptor-like 3, is
            associated with rheumatoid arthritis and several autoimmunities
  JOURNAL   Nat Genet 37 (5), 478-485 (2005)
   PUBMED   15838509
  REMARK    Erratum:[Nat Genet. 2005 Jun;37(6):652]
REFERENCE   7  (residues 1 to 742)
  AUTHORS   Xu MJ, Zhao R, Cao H and Zhao ZJ.
  TITLE     SPAP2, an Ig family receptor containing both ITIMs and ITAMs
  JOURNAL   Biochem Biophys Res Commun 293 (3), 1037-1046 (2002)
   PUBMED   12051764
  REMARK    GeneRIF: molecular cloning and characterization of SPAP2
REFERENCE   8  (residues 1 to 742)
  AUTHORS   Miller I, Hatzivassiliou G, Cattoretti G, Mendelsohn C and
            Dalla-Favera R.
  TITLE     IRTAs: a new family of immunoglobulinlike receptors differentially
            expressed in B cells
  JOURNAL   Blood 99 (8), 2662-2669 (2002)
   PUBMED   11929751
REFERENCE   9  (residues 1 to 742)
  AUTHORS   Davis RS, Dennis G Jr, Kubagawa H and Cooper MD.
  TITLE     Fc receptor homologs (FcRH1-5) extend the Fc receptor family
  JOURNAL   Curr Top Microbiol Immunol 266, 85-112 (2002)
   PUBMED   12014205
  REMARK    Review article
REFERENCE   10 (residues 1 to 742)
  AUTHORS   Davis RS, Wang YH, Kubagawa H and Cooper MD.
  TITLE     Identification of a family of Fc receptor homologs with
            preferential B cell expression
  JOURNAL   Proc Natl Acad Sci U S A 98 (17), 9772-9777 (2001)
   PUBMED   11493702
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY081176.1, BC028933.1 and
            BF514552.1.
            
            Summary: This gene encodes a member of the immunoglobulin receptor
            superfamily and is one of several Fc receptor-like glycoproteins
            clustered on the long arm of chromosome 1. The encoded protein
            contains immunoreceptor-tyrosine activation motifs and
            immunoreceptor-tyrosine inhibitory motifs in its cytoplasmic domain
            and may play a role in regulation of the immune system. Mutations
            in this gene have been associated with rheumatoid arthritis,
            autoimmune thyroid disease, and systemic lupus erythematosus.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (3) encodes the longer isoform
            (3).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC028933.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..742
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     Protein         1..742
                     /product="Fc receptor-like protein 3 isoform 3 precursor"
                     /note="SH2 domain-containing phosphatase anchor protein 2;
                     Fc receptor homolog 3; immunoglobulin superfamily receptor
                     translocation associated protein 3; hIFGP3; fcR-like
                     protein 3; IFGP family protein 3; immune receptor
                     translocation-associated protein 3"
                     /calculated_mol_wt=79962
     sig_peptide     1..16
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1909
     Region          23..97
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          40..44
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          55..59
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          70..74
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          79..84
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          90..93
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          101..185
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          116..120
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          130..134
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          146..150
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          160..165
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          178..181
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          192..263
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          299..362
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          305..309
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          319..323
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          341..345
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          355..360
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          383..455
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          400..404
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          414..418
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          439..442
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          448..453
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          462..465
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          476..548
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          493..497
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          506..511
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          532..535
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          541..546
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          555..558
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Site            561
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96P31.1)"
     Site            574..594
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96P31.1)"
     Region          603..655
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96P31.1)"
     Region          648..653
                     /region_name="ITIM motif 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96P31.1)"
     Site            650
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000305|PubMed:19843936; propagated from
                     UniProtKB/Swiss-Prot (Q96P31.1)"
     Region          660..665
                     /region_name="ITIM motif 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96P31.1)"
     Site            662
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000305|PubMed:19843936; propagated from
                     UniProtKB/Swiss-Prot (Q96P31.1)"
     Region          690..695
                     /region_name="ITIM motif 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96P31.1)"
     Site            692
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000305|PubMed:19843936; propagated from
                     UniProtKB/Swiss-Prot (Q96P31.1)"
     Region          720..725
                     /region_name="ITIM motif 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96P31.1)"
     Site            722
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000305|PubMed:19843936; propagated from
                     UniProtKB/Swiss-Prot (Q96P31.1)"
     CDS             1..742
                     /gene="FCRL3"
                     /gene_synonym="CD307c; FCRH3; IFGP3; IRTA3; MAIA; SPAP2"
                     /coded_by="NM_001320333.2:205..2433"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS81385.1"
                     /db_xref="GeneID:115352"
                     /db_xref="HGNC:HGNC:18506"
                     /db_xref="MIM:606510"
ORIGIN      
        1 mllwllllil tpgreqsgva pkavlllnpp wstafkgekv alicssishs laqgdtywyh
       61 dekllkikhd kiqitepgny qcktrgssls davhvefspd wlilqalhpv fegdnvilrc
      121 qgkdnknthq kvyykdgkql pnsynlekit vnsvsrdnsk yhctayrkfy ildievtskp
      181 lniqvqelfl hpvlrassst piegspmtlt cetqlspqrp dvqlqfslfr dsqtlglgws
      241 rsprlqipam wtedsgsywc evetvthsik krslrsqirv qrvpvsnvnl eirptggqli
      301 egenmvlics vaqgsgtvtf swhkegrvrs lgrktqrsll aelhvltvke sdagryycaa
      361 dnvhspilst wirvtvripv shpvltfrap rahtvvgdll elhceslrgs ppilyrfyhe
      421 dvtlgnssap sgggasfnls ltaehsgnys cdadnglgaq hshgvslrvt vpvsrpvltl
      481 rapgaqavvg dllelhcesl rgsfpilywf yheddtlgni sahsgggasf nlslttehsg
      541 nysceadngl gaqhskvvtl nvtgtsrnrt gltaagitgl vlsilvlaaa aallhyarar
      601 rkpgglsatg tsshspsecq epsssrpsri dpqepthskp lapmelepmy snvnpgdsnp
      661 iysqiwsiqh tkensancpm mhqeheeltv lyselkkthp ddsageassr graheeddee
      721 nyenilnprk nkvqdfpclc nt
//
LOCUS       NP_001305866             635 aa            linear   PRI 15-MAR-2023
DEFINITION  ribosomal protein S6 kinase alpha-2 isoform d [Homo sapiens].
ACCESSION   NP_001305866
VERSION     NP_001305866.1
DBSOURCE    REFSEQ: accession NM_001318937.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 635)
  AUTHORS   Kumari A, Gesumaria L, Liu YJ, Hughitt VK, Zhang X, Ceribelli M,
            Wilson KM, Klumpp-Thomas C, Chen L, McKnight C, Itkin Z, Thomas CJ,
            Mock BA, Schrump DS and Chen H.
  TITLE     mTOR inhibition overcomes RSK3-mediated resistance to BET
            inhibitors in small cell lung cancer
  JOURNAL   JCI Insight 8 (5), e156657 (2023)
   PUBMED   36883564
  REMARK    GeneRIF: mTOR inhibition overcomes RSK3-mediated resistance to BET
            inhibitors in small cell lung cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 635)
  AUTHORS   Xu H, Li X, Wang S, Li F, Gao J, Yan L and Zhu L.
  TITLE     Multiomics analysis identifies key genes and pathways related to
            N6-methyladenosine RNA modification in ovarian cancer
  JOURNAL   Epigenomics 13 (17), 1359-1383 (2021)
   PUBMED   34550011
  REMARK    GeneRIF: Multiomics analysis identifies key genes and pathways
            related to N6-methyladenosine RNA modification in ovarian cancer.
REFERENCE   3  (residues 1 to 635)
  AUTHORS   Sung H, Hyland PL, Pemov A, Sabourin JA, Baldwin AM, Bass S,
            Teshome K, Luo W, Widemann BC, Stewart DR and Wilson AF.
  CONSRTM   Frederick National Laboratory for Cancer Research
  TITLE     Genome-wide association study of cafe-au-lait macule number in
            neurofibromatosis type 1
  JOURNAL   Mol Genet Genomic Med 8 (10), e1400 (2020)
   PUBMED   32869517
  REMARK    GeneRIF: Genome-wide association study of cafe-au-lait macule
            number in neurofibromatosis type 1.
REFERENCE   4  (residues 1 to 635)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 635)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   6  (residues 1 to 635)
  AUTHORS   Zhao Y, Bjorbaek C and Moller DE.
  TITLE     Regulation and interaction of pp90(rsk) isoforms with
            mitogen-activated protein kinases
  JOURNAL   J Biol Chem 271 (47), 29773-29779 (1996)
   PUBMED   8939914
REFERENCE   7  (residues 1 to 635)
  AUTHORS   Xing J, Ginty DD and Greenberg ME.
  TITLE     Coupling of the RAS-MAPK pathway to gene activation by RSK2, a
            growth factor-regulated CREB kinase
  JOURNAL   Science 273 (5277), 959-963 (1996)
   PUBMED   8688081
REFERENCE   8  (residues 1 to 635)
  AUTHORS   Wong EV, Schaefer AW, Landreth G and Lemmon V.
  TITLE     Involvement of p90rsk in neurite outgrowth mediated by the cell
            adhesion molecule L1
  JOURNAL   J Biol Chem 271 (30), 18217-18223 (1996)
   PUBMED   8663493
REFERENCE   9  (residues 1 to 635)
  AUTHORS   Zhao Y, Bjorbaek C, Weremowicz S, Morton CC and Moller DE.
  TITLE     RSK3 encodes a novel pp90rsk isoform with a unique N-terminal
            sequence: growth factor-stimulated kinase function and nuclear
            translocation
  JOURNAL   Mol Cell Biol 15 (8), 4353-4363 (1995)
   PUBMED   7623830
REFERENCE   10 (residues 1 to 635)
  AUTHORS   Moller DE, Xia CH, Tang W, Zhu AX and Jakubowski M.
  TITLE     Human rsk isoforms: cloning and characterization of tissue-specific
            expression
  JOURNAL   Am J Physiol 266 (2 Pt 1), C351-C359 (1994)
   PUBMED   8141249
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA320139.1, KJ535080.1,
            AL022069.1, AB209116.1 and BQ029058.1.
            
            Summary: This gene encodes a member of the RSK (ribosomal S6
            kinase) family of serine/threonine kinases. This kinase contains
            two non-identical kinase catalytic domains and phosphorylates
            various substrates, including members of the mitogen-activated
            kinase (MAPK) signalling pathway. The activity of this protein has
            been implicated in controlling cell growth and differentiation.
            Alternative splice variants, encoding different isoforms, have been
            characterized. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (4) differs in the 5' UTR and 5'
            coding region compared to variant 1, and initiates translation at
            an alternate start codon. The encoded isoform (d) has a distinct
            N-terminus and is shorter than isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: KJ535080.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..635
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q27"
     Protein         1..635
                     /product="ribosomal protein S6 kinase alpha-2 isoform d"
                     /EC_number="2.7.11.1"
                     /note="ribosomal S6 kinase 3; ribosomal protein S6 kinase
                     alpha-2; MAPK-activated protein kinase 1c; ribosomal
                     protein S6 kinase, 90kDa, polypeptide 2; MAP
                     kinase-activated protein kinase 1c; mitogen-activated
                     protein kinase-activated protein kinase 1C"
                     /calculated_mol_wt=71765
     Region          3..281
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          313..605
                     /region_name="STKc_RSK3_C"
                     /note="C-terminal catalytic domain of the Serine/Threonine
                     Kinase, Ribosomal S6 kinase 3 (also called Ribosomal
                     protein S6 kinase alpha-2 or 90kDa ribosomal protein S6
                     kinase 2); cd14178"
                     /db_xref="CDD:271080"
     Site            order(323..327,331,344,346,372,388..391,395,397,433..434,
                     436,438..439,441,455..456,459,474..478,480)
                     /site_type="active"
                     /db_xref="CDD:271080"
     Site            order(323..326,331,344,346,372,388..391,395,438..439,441,
                     455..456)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271080"
     Site            order(327,395,397,433..434,436,438,459,474..478,480)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271080"
     Site            455..478
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271080"
     CDS             1..635
                     /gene="RPS6KA2"
                     /gene_synonym="HU-2; MAPKAPK1C; p90-RSK3; p90RSK2;
                     pp90RSK3; RSK; RSK3; S6K-alpha; S6K-alpha2"
                     /coded_by="NM_001318937.2:382..2289"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="GeneID:6196"
                     /db_xref="HGNC:HGNC:10431"
                     /db_xref="MIM:601685"
ORIGIN      
        1 mekdrggayg nrdilaevnh pfivklhyaf qtegklylil dflrggdlft rlskevmfte
       61 edvkfylael alaldhlhsl giiyrdlkpe nilldeeghi kitdfglske aidhdkrays
      121 fcgtieymap evvnrrghtq sadwwsfgvl mfemltgslp fqgkdrketm alilkaklgm
      181 pqflsgeaqs llralfkrnp cnrlgagidg veeikrhpff vtidwntlyr keikppfkpa
      241 vgrpedtfhf dpeftartpt dspgvppsan ahhlfrgfsf vassliqeps qqdlhkvpvh
      301 pivqqlhgnn ihftdgyeik edigvgsysv ckrcvhkatd teyavkiidk skrdpseeie
      361 illrygqhpn iitlkdvydd gkfvylvmel mrggelldri lrqryfsere asdvlctitk
      421 tmdylhsqgv vhrdlkpsni lyrdesgspe sirvcdfgfa kqlragngll mtpcytanfv
      481 apevlkrqgy daacdiwslg illytmlagf tpfangpddt peeilarigs gkyalsggnw
      541 dsisdaakdv vskmlhvdph qrltamqvlk hpwvvnreyl spnqlsrqdv hlvkgamaat
      601 yfalnrtpqa prlepvlssn laqrrgmkrl tstrl
//
LOCUS       NP_001288058             118 aa            linear   PRI 15-MAR-2023
DEFINITION  DNA-directed RNA polymerases I, II, and III subunit RPABC2 isoform
            2 [Homo sapiens].
ACCESSION   NP_001288058
VERSION     NP_001288058.1
DBSOURCE    REFSEQ: accession NM_001301129.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 118)
  AUTHORS   Okuda M, Suwa T, Suzuki H, Yamaguchi Y and Nishimura Y.
  TITLE     Three human RNA polymerases interact with TFIIH via a common RPB6
            subunit
  JOURNAL   Nucleic Acids Res 50 (1), 1-16 (2022)
   PUBMED   34268577
  REMARK    GeneRIF: Three human RNA polymerases interact with TFIIH via a
            common RPB6 subunit.
REFERENCE   2  (residues 1 to 118)
  AUTHORS   Wani S, Hirose Y and Ohkuma Y.
  TITLE     Human RNA polymerase II-associated protein 2 (RPAP2) interacts
            directly with the RNA polymerase II subunit Rpb6 and participates
            in pre-mRNA 3&apos;-end formation
  JOURNAL   Drug Discov Ther 8 (6), 255-261 (2014)
   PUBMED   25639305
  REMARK    GeneRIF: These results suggest that RPAP2 controls Pol II activity
            through a direct interaction with Rpb6
REFERENCE   3  (residues 1 to 118)
  AUTHORS   Pusch C, Wang Z, Roe B and Blin N.
  TITLE     Genomic structure of the RNA polymerase II small subunit (hRPB14.4)
            locus (POLRF) and mapping to 22q13.1 by sequence identity
  JOURNAL   Genomics 34 (3), 440-442 (1996)
   PUBMED   8786150
REFERENCE   4  (residues 1 to 118)
  AUTHORS   Acker J, Wintzerith M, Vigneron M and Kedinger C.
  TITLE     A 14.4 KDa acidic subunit of human RNA polymerase II with a
            putative leucine-zipper
  JOURNAL   DNA Seq 4 (5), 329-331 (1994)
   PUBMED   7803819
REFERENCE   5  (residues 1 to 118)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   6  (residues 1 to 118)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301612
REFERENCE   7  (residues 1 to 118)
  AUTHORS   Kato H, Sumimoto H, Pognonec P, Chen CH, Rosen CA and Roeder RG.
  TITLE     HIV-1 Tat acts as a processivity factor in vitro in conjunction
            with cellular elongation factors
  JOURNAL   Genes Dev 6 (4), 655-666 (1992)
   PUBMED   1559613
REFERENCE   8  (residues 1 to 118)
  AUTHORS   Jacob GA, Luse SW and Luse DS.
  TITLE     Abortive initiation is increased only for the weakest members of a
            set of down mutants of the adenovirus 2 major late promoter
  JOURNAL   J Biol Chem 266 (33), 22537-22544 (1991)
   PUBMED   1939271
REFERENCE   9  (residues 1 to 118)
  AUTHORS   Southgate C, Zapp ML and Green MR.
  TITLE     Activation of transcription by HIV-1 Tat protein tethered to
            nascent RNA through another protein
  JOURNAL   Nature 345 (6276), 640-642 (1990)
   PUBMED   2190099
REFERENCE   10 (residues 1 to 118)
  AUTHORS   Conaway RC and Conaway JW.
  TITLE     ATP activates transcription initiation from promoters by RNA
            polymerase II in a reversible step prior to RNA synthesis
  JOURNAL   J Biol Chem 263 (6), 2962-2968 (1988)
   PUBMED   2449431
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA083933.1 and AL031587.3.
            
            Summary: This gene encodes the sixth largest subunit of RNA
            polymerase II, the polymerase responsible for synthesizing
            messenger RNA in eukaryotes. In yeast, this polymerase subunit, in
            combination with at least two other subunits, forms a structure
            that stabilizes the transcribing polymerase on the DNA template.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (2) contains an alternate exon in
            the 5' region and initiates translation at an alternate start
            codon, compared to variant 1. The encoded isoform (2) has a
            distinct N-terminus and is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA083933.1, SRR18074967.1524575.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..118
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     Protein         1..118
                     /product="DNA-directed RNA polymerases I, II, and III
                     subunit RPABC2 isoform 2"
                     /EC_number="2.7.7.6"
                     /note="DNA-directed RNA polymerases I, II, and III subunit
                     RPABC2; RNA Polymerase II subunit 14.4 kD; DNA-directed
                     RNA polymerase II subunit F; RNA polymerases I, II, and
                     III subunit ABC2; DNA-directed RNA polymerases I, II, and
                     III 14.4 kDa polypeptide; polymerase (RNA) II (DNA
                     directed) polypeptide F; polymerase (RNA) II subunit F"
                     /calculated_mol_wt=13213
     Region          <21..118
                     /region_name="PLN00152"
                     /note="DNA-directed RNA polymerase; Provisional"
                     /db_xref="CDD:177755"
     CDS             1..118
                     /gene="POLR2F"
                     /gene_synonym="HRBP14.4; POLRF; RPABC14.4; RPABC2;
                     RPB14.4; RPB6; RPC15"
                     /coded_by="NM_001301129.2:215..571"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:5435"
                     /db_xref="HGNC:HGNC:9193"
                     /db_xref="MIM:604414"
ORIGIN      
        1 mvsisclvir pprppkvlgl qegqenveil psgerpqanq krittpymtk yerarvlgtr
       61 alqiamcapv mvelegetdp lliamkelka rkipiiirry lpdgsyedwg vdeliitd
//
LOCUS       NP_001092140             609 aa            linear   PRI 15-MAR-2023
DEFINITION  RAS guanyl-releasing protein 2 isoform a [Homo sapiens].
ACCESSION   NP_001092140
VERSION     NP_001092140.1
DBSOURCE    REFSEQ: accession NM_001098670.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 609)
  AUTHORS   Liu Y, Ouyang Y, Feng Z, Jiang Z, Ma J, Zhou X, Cai C, Han Y, Zeng
            S, Liu S and Shen H.
  TITLE     RASGRP2 is a potential immune-related biomarker and regulates
            mitochondrial-dependent apoptosis in lung adenocarcinoma
  JOURNAL   Front Immunol 14, 1100231 (2023)
   PUBMED   36817422
  REMARK    GeneRIF: RASGRP2 is a potential immune-related biomarker and
            regulates mitochondrial-dependent apoptosis in lung adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 609)
  AUTHORS   Kawankar N, Shetty S and Kulkarni B.
  TITLE     Novel RASGRP2 variants in platelet function defects: Indian study
  JOURNAL   Br J Haematol 197 (3), 377-380 (2022)
   PUBMED   35122233
  REMARK    GeneRIF: Novel RASGRP2 variants in platelet function defects:
            Indian study.
REFERENCE   3  (residues 1 to 609)
  AUTHORS   Morais S, Pereira M, Lau C, Goncalves A, Monteiro C, Goncalves M,
            Oliveira J, Moreira L, Cruz E, Santos R and Lima M.
  TITLE     CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous
            and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2
  JOURNAL   Int J Mol Sci 22 (22), 12423 (2021)
   PUBMED   34830306
  REMARK    GeneRIF: CalDAG-GEFI Deficiency in a Family with Symptomatic
            Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant
            in RASGRP2.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 609)
  AUTHORS   Takino JI, Miyazaki S, Nagamine K and Hori T.
  TITLE     The Role of RASGRP2 in Vascular Endothelial Cells-A Mini Review
  JOURNAL   Int J Mol Sci 22 (20), 11129 (2021)
   PUBMED   34681791
  REMARK    GeneRIF: The Role of RASGRP2 in Vascular Endothelial Cells-A Mini
            Review.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 609)
  AUTHORS   Rosenberg N, Dardik R, Hauschner H, Nakav S, Barel O, Luboshitz J,
            Yacobovich J, Tamary H and Kenet G.
  TITLE     Mutations in RASGRP2 gene identified in patients misdiagnosed as
            Glanzmann thrombasthenia patients
  JOURNAL   Blood Cells Mol Dis 89, 102560 (2021)
   PUBMED   33711653
  REMARK    GeneRIF: Mutations in RASGRP2 gene identified in patients
            misdiagnosed as Glanzmann thrombasthenia patients.
REFERENCE   6  (residues 1 to 609)
  AUTHORS   Toki S, Kawasaki H, Tashiro N, Housman DE and Graybiel AM.
  TITLE     Guanine nucleotide exchange factors CalDAG-GEFI and CalDAG-GEFII
            are colocalized in striatal projection neurons
  JOURNAL   J Comp Neurol 437 (4), 398-407 (2001)
   PUBMED   11503142
REFERENCE   7  (residues 1 to 609)
  AUTHORS   Guo FF, Kumahara E and Saffen D.
  TITLE     A CalDAG-GEFI/Rap1/B-Raf cassette couples M(1) muscarinic
            acetylcholine receptors to the activation of ERK1/2
  JOURNAL   J Biol Chem 276 (27), 25568-25581 (2001)
   PUBMED   11292831
REFERENCE   8  (residues 1 to 609)
  AUTHORS   Clyde-Smith J, Silins G, Gartside M, Grimmond S, Etheridge M,
            Apolloni A, Hayward N and Hancock JF.
  TITLE     Characterization of RasGRP2, a plasma membrane-targeted, dual
            specificity Ras/Rap exchange factor
  JOURNAL   J Biol Chem 275 (41), 32260-32267 (2000)
   PUBMED   10918068
REFERENCE   9  (residues 1 to 609)
  AUTHORS   Kawasaki H, Springett GM, Toki S, Canales JJ, Harlan P, Blumenstiel
            JP, Chen EJ, Bany IA, Mochizuki N, Ashbacher A, Matsuda M, Housman
            DE and Graybiel AM.
  TITLE     A Rap guanine nucleotide exchange factor enriched highly in the
            basal ganglia
  JOURNAL   Proc Natl Acad Sci U S A 95 (22), 13278-13283 (1998)
   PUBMED   9789079
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1999 Jan 5;96(1):318]
REFERENCE   10 (residues 1 to 609)
  AUTHORS   Kedra D, Seroussi E, Fransson I, Trifunovic J, Clark M, Lagercrantz
            J, Blennow E, Mehlin H and Dumanski J.
  TITLE     The germinal center kinase gene and a novel CDC25-like gene are
            located in the vicinity of the PYGM gene on 11q13
  JOURNAL   Hum Genet 100 (5-6), 611-619 (1997)
   PUBMED   9341881
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB498812.1 and AF043723.1.
            
            Summary: The protein encoded by this gene is a brain-enriched
            nucleotide exchanged factor that contains an N-terminal GEF domain,
            2 tandem repeats of EF-hand calcium-binding motifs, and a
            C-terminal diacylglycerol/phorbol ester-binding domain. This
            protein can activate small GTPases, including RAS and RAP1/RAS3.
            The nucleotide exchange activity of this protein can be stimulated
            by calcium and diacylglycerol. Four alternatively spliced
            transcript variants encoding two different isoforms have been found
            for this gene. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 2. Variants 2, 3, and 4 all encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC110306.1, SRR3476690.1005153.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     Protein         1..609
                     /product="RAS guanyl-releasing protein 2 isoform a"
                     /note="calcium and diacylglycerol-regulated guanine
                     nucleotide exchange factor I; guanine exchange factor
                     MCG7; calcium and DAG-regulated guanine nucleotide
                     exchange factor I; RAS guanyl nucleotide-releasing protein
                     2; RAS guanyl releasing protein 2 (calcium and
                     DAG-regulated); cdc25-like protein; F25B3.3 kinase-like
                     protein"
                     /calculated_mol_wt=69118
     Region          7..121
                     /region_name="RasGEFN"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     GTPases; N-terminal motif; smart00229"
                     /db_xref="CDD:214571"
     Site            order(23,69,73..74,77,80..81,116..117,120)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:100121"
     Site            116
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QUG9; propagated from
                     UniProtKB/Swiss-Prot (Q7LDG7.1)"
     Site            117
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QUG9; propagated from
                     UniProtKB/Swiss-Prot (Q7LDG7.1)"
     Site            147
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QUG9; propagated from
                     UniProtKB/Swiss-Prot (Q7LDG7.1)"
     Region          150..387
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases; smart00147"
                     /db_xref="CDD:214539"
     Site            order(183..185,193..194,196..198,200..201,204..205,208,
                     241,244..245,247..249,251..254,256..257,277,280,285..287,
                     290,303..305,308..310,312..314,316..319,336,340,375,
                     378..379)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     Region          382..406
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7LDG7.1)"
     Region          430..481
                     /region_name="EFh"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     cd00051"
                     /db_xref="CDD:238008"
     Site            order(439,441,443,450,468,470,472,479)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238008"
     Region          496..551
                     /region_name="C1_RASGRP2"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in RAS guanyl-releasing protein 2 (RASGRP2) and
                     similar proteins; cd20861"
                     /db_xref="CDD:410411"
     Site            554
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QUG9; propagated from
                     UniProtKB/Swiss-Prot (Q7LDG7.1)"
     Region          557..592
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7LDG7.1)"
     Site            576
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P0C643; propagated from
                     UniProtKB/Swiss-Prot (Q7LDG7.1)"
     CDS             1..609
                     /gene="RASGRP2"
                     /gene_synonym="CALDAG-GEFI; CDC25L"
                     /coded_by="NM_001098670.2:157..1986"
                     /note="isoform a is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS31598.1"
                     /db_xref="GeneID:10235"
                     /db_xref="HGNC:HGNC:9879"
                     /db_xref="MIM:605577"
ORIGIN      
        1 magtldldkg ctveellrgc ieafddsgkv rdpqlvrmfl mmhpwyipss qlaakllhiy
       61 qqsrkdnsns lqvktchlvr ywisafpaef dlnpelaeqi kelkalldqe gnrrhsslid
      121 idsvptykwk rqvtqrnpvg qkkrkmsllf dhlepmelae hltyleyrsf ckilfqdyhs
      181 fvthgctvdn pvlerfislf nsvsqwvqlm ilskptapqr alvithfvhv aekllqlqnf
      241 ntlmavvggl shssisrlke thshvspeti klwegltelv tatgnygnyr rrlaacvgfr
      301 fpilgvhlkd lvalqlalpd wldpartrln gakmkqlfsi leelamvtsl rppvqanpdl
      361 lslltvsldq yqtedelyql slqreprsks sptsptsctp pprppvleew tsaakpkldq
      421 alvvehiekm vesvfrnfdv dgdghisqee fqiirgnfpy lsafgdldqn qdgcisreem
      481 vsyflrsssv lggrmgfvhn fqesnslrpv acrhckalil giykqglkcr acgvnchkqc
      541 kdrlsvecrr raqsvslegs apspspmhsh hhrafsfslp rpgrrgsrpp eireeevqtv
      601 edgvfdihl
//
LOCUS       NP_001352252             693 aa            linear   PRI 17-MAR-2023
DEFINITION  terminal nucleotidyltransferase 4B isoform c [Homo sapiens].
ACCESSION   NP_001352252 XP_016879044
VERSION     NP_001352252.1
DBSOURCE    REFSEQ: accession NM_001365323.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 693)
  AUTHORS   Li Y, Misumi I, Shiota T, Sun L, Lenarcic EM, Kim H, Shirasaki T,
            Hertel-Wulff A, Tibbs T, Mitchell JE, McKnight KL, Cameron CE,
            Moorman NJ, McGivern DR, Cullen JM, Whitmire JK and Lemon SM.
  TITLE     The ZCCHC14/TENT4 complex is required for hepatitis A virus RNA
            synthesis
  JOURNAL   Proc Natl Acad Sci U S A 119 (28), e2204511119 (2022)
   PUBMED   35867748
  REMARK    GeneRIF: The ZCCHC14/TENT4 complex is required for hepatitis A
            virus RNA synthesis.
REFERENCE   2  (residues 1 to 693)
  AUTHORS   Wang C, Zhao J, Nan X, Guo Z, Huang S, Wang X, Sun F and Ma S.
  TITLE     Long noncoding RNA CASC2 inhibits ox-LDL-mediated vascular smooth
            muscle cells proliferation and migration via the regulation of
            miR-532-3p/PAPD5
  JOURNAL   Mol Med 26 (1), 74 (2020)
   PUBMED   32698757
  REMARK    GeneRIF: Long noncoding RNA CASC2 inhibits ox-LDL-mediated vascular
            smooth muscle cells proliferation and migration via the regulation
            of miR-532-3p/PAPD5.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 693)
  AUTHORS   Shukla S, Jeong HC, Sturgeon CM, Parker R and Batista LFZ.
  TITLE     Chemical inhibition of PAPD5/7 rescues telomerase function and
            hematopoiesis in dyskeratosis congenita
  JOURNAL   Blood Adv 4 (12), 2717-2722 (2020)
   PUBMED   32559291
  REMARK    GeneRIF: Chemical inhibition of PAPD5/7 rescues telomerase function
            and hematopoiesis in dyskeratosis congenita.
REFERENCE   4  (residues 1 to 693)
  AUTHORS   Kim D, Lee YS, Jung SJ, Yeo J, Seo JJ, Lee YY, Lim J, Chang H, Song
            J, Yang J, Kim JS, Jung G, Ahn K and Kim VN.
  TITLE     Viral hijacking of the TENT4-ZCCHC14 complex protects viral RNAs
            via mixed tailing
  JOURNAL   Nat Struct Mol Biol 27 (6), 581-588 (2020)
   PUBMED   32451488
  REMARK    GeneRIF: Viral hijacking of the TENT4-ZCCHC14 complex protects
            viral RNAs via mixed tailing.
REFERENCE   5  (residues 1 to 693)
  AUTHORS   Roake CM, Chen L, Chakravarthy AL, Ferrell JE Jr, Raffa GD and
            Artandi SE.
  TITLE     Disruption of Telomerase RNA Maturation Kinetics Precipitates
            Disease
  JOURNAL   Mol Cell 74 (4), 688-700 (2019)
   PUBMED   30930056
  REMARK    GeneRIF: We find that mature hTR derives from extended precursors
            but that in PARN-mutant cells hTR maturation kinetically stalls and
            unprocessed precursors are degraded. Loss of poly(A)polymerase
            PAPD5 in PARN-mutant cells accelerates hTR maturation and restores
            hTR processing, indicating that oligoadenylation and deadenylation
            set rates of hTR maturation
REFERENCE   6  (residues 1 to 693)
  AUTHORS   Berndt H, Harnisch C, Rammelt C, Stohr N, Zirkel A, Dohm JC,
            Himmelbauer H, Tavanez JP, Huttelmaier S and Wahle E.
  TITLE     Maturation of mammalian H/ACA box snoRNAs: PAPD5-dependent
            adenylation and PARN-dependent trimming
  JOURNAL   RNA 18 (5), 958-972 (2012)
   PUBMED   22442037
  REMARK    Erratum:[RNA. 2014 Aug;20(8):1349]
REFERENCE   7  (residues 1 to 693)
  AUTHORS   Rammelt C, Bilen B, Zavolan M and Keller W.
  TITLE     PAPD5, a noncanonical poly(A) polymerase with an unusual
            RNA-binding motif
  JOURNAL   RNA 17 (9), 1737-1746 (2011)
   PUBMED   21788334
  REMARK    GeneRIF: PAPD5 catalyzes the polyadenylation of different types of
            RNA substrates in vitro.
REFERENCE   8  (residues 1 to 693)
  AUTHORS   Lubas M, Christensen MS, Kristiansen MS, Domanski M, Falkenby LG,
            Lykke-Andersen S, Andersen JS, Dziembowski A and Jensen TH.
  TITLE     Interaction profiling identifies the human nuclear exosome
            targeting complex
  JOURNAL   Mol Cell 43 (4), 624-637 (2011)
   PUBMED   21855801
REFERENCE   9  (residues 1 to 693)
  AUTHORS   Mullen TE and Marzluff WF.
  TITLE     Degradation of histone mRNA requires oligouridylation followed by
            decapping and simultaneous degradation of the mRNA both 5' to 3'
            and 3' to 5'
  JOURNAL   Genes Dev 22 (1), 50-65 (2008)
   PUBMED   18172165
REFERENCE   10 (residues 1 to 693)
  AUTHORS   Walowsky C, Fitzhugh DJ, Castano IB, Ju JY, Levin NA and Christman
            MF.
  TITLE     The topoisomerase-related function gene TRF4 affects cellular
            sensitivity to the antitumor agent camptothecin
  JOURNAL   J Biol Chem 274 (11), 7302-7308 (1999)
   PUBMED   10066793
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007610.10 and AC007597.3.
            On Aug 16, 2018 this sequence version replaced XP_016879044.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803613.43213.1, SRR7346977.1298380.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2142348, SAMEA2145245 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..693
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.1"
     Protein         1..693
                     /product="terminal nucleotidyltransferase 4B isoform c"
                     /EC_number="2.7.7.19"
                     /note="topoisomerase-related function protein 4-2;
                     PAP-associated domain-containing protein 5; TUTase 3;
                     terminal uridylyltransferase 3; non-canonical poly(A) RNA
                     polymerase PAPD5; PAP associated domain containing 5;
                     poly(A) RNA polymerase D5, non-canonical; terminal
                     guanylyltransferase; terminal nucleotidyltransferase 4A"
                     /calculated_mol_wt=75199
     Region          194..>466
                     /region_name="TRF4"
                     /note="DNA polymerase sigma [Replication, recombination
                     and repair]; COG5260"
                     /db_xref="CDD:227585"
     CDS             1..693
                     /gene="TENT4B"
                     /gene_synonym="PAPD5; TRF4-2; TUT3"
                     /coded_by="NM_001365323.2:156..2237"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="GeneID:64282"
                     /db_xref="HGNC:HGNC:30758"
                     /db_xref="MIM:605540"
ORIGIN      
        1 mqiwettqgl rnlyfnhhch ssggasgggg sssssstatg gsgsstgspg gaasapapap
       61 agmyrsgerl lgshalpaeq rdflplettn nnnnhhqpga warragssas sppsasssph
      121 psaavpaadp adsasgssnk rkrdnkasty glnysllqps ggraagggra dgggvvysgt
      181 pwkrrnynqg vvglheeisd fyeymsprpe eekmrmevvn riesvikelw psadvqifgs
      241 fktglylpts didlvvfgkw enlplwtlee alrkhkvade dsvkvldkat vpiikltdsf
      301 tevkvdisfn vqngvraadl ikdftkkypv lpylvlvlkq fllqrdlnev ftggigsysl
      361 flmavsflql hpredacipn tnygvllief felygrhfny lktgirikdg gsyvakdevq
      421 knmldgyrps mlyiedplqp gndvgrssyg amqvkqafdy ayvvlshavs piakyypnne
      481 tesilgriir vtdevatyrd wiskqwglkn rpepscngng vtlivdtqql dkcnnnlsee
      541 nealgkcrsk tseslskhss nsssgpvsss satqssssdv dsdatpcktp kqllcrpstg
      601 nrvgsqdvsl essqavgkmq stqttntsns tnksqhgsar lfrssskgfq gttqtshgsl
      661 mtnkqhqgks nnqyyhgkkr khkrdaplsd lcr
//
LOCUS       NP_001337466             901 aa            linear   PRI 19-MAR-2023
DEFINITION  sorting nexin-14 isoform j [Homo sapiens].
ACCESSION   NP_001337466 XP_016866581
VERSION     NP_001337466.1
DBSOURCE    REFSEQ: accession NM_001350537.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 901)
  AUTHORS   Datta S, Liu Y, Hariri H, Bowerman J and Henne WM.
  TITLE     Cerebellar ataxia disease-associated Snx14 promotes lipid droplet
            growth at ER-droplet contacts
  JOURNAL   J Cell Biol 218 (4), 1335-1351 (2019)
   PUBMED   30765438
  REMARK    GeneRIF: Snx14, an endoplasmic reticulum-resident protein
            associated with the cerebellar ataxia SCAR20, localizes to ER-LD
            contacts following fatty acid treatment, where it promotes lipid
            droplet maturation.
REFERENCE   2  (residues 1 to 901)
  AUTHORS   Bryant D, Liu Y, Datta S, Hariri H, Seda M, Anderson G, Peskett E,
            Demetriou C, Sousa S, Jenkins D, Clayton P, Bitner-Glindzicz M,
            Moore GE, Henne WM and Stanier P.
  TITLE     SNX14 mutations affect endoplasmic reticulum-associated neutral
            lipid metabolism in autosomal recessive spinocerebellar ataxia 20
  JOURNAL   Hum Mol Genet 27 (11), 1927-1940 (2018)
   PUBMED   29635513
  REMARK    GeneRIF: We therefore identify an important role for SNX14 in
            neutral lipid homeostasis between the endoplasmic reticulum ,
            lysosomes and lipid droplets that may provide an early intervention
            target to alleviate the clinical symptoms of autosomal recessive
            cerebellar ataxia 20 (SCAR20).
REFERENCE   3  (residues 1 to 901)
  AUTHORS   Shukla A, Upadhyai P, Shah J, Neethukrishna K, Bielas S and Girisha
            KM.
  TITLE     Autosomal recessive spinocerebellar ataxia 20: Report of a new
            patient and review of literature
  JOURNAL   Eur J Med Genet 60 (2), 118-123 (2017)
   PUBMED   27913285
  REMARK    GeneRIF: Here we report on a child with a novel missense mutation
            in the SNX14 gene that appears to be debilitating for protein
            conformation, function and review the previously reported cases
            from 15 families
REFERENCE   4  (residues 1 to 901)
  AUTHORS   Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO,
            Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL,
            Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman
            MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagiroglu MS,
            Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S,
            Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L,
            Temtamy S, Muller U, Desguerre I, Casanova JL, Dursun A, Gunel M,
            Gabriel SB, de Lonlay P and Gleeson JG.
  TITLE     Biallelic mutations in SNX14 cause a syndromic form of cerebellar
            atrophy and lysosome-autophagosome dysfunction
  JOURNAL   Nat Genet 47 (5), 528-534 (2015)
   PUBMED   25848753
  REMARK    GeneRIF: A unique ataxia syndrome due to biallelic SNX14 mutations
            leading to lysosome-autophagosome dysfunction.
REFERENCE   5  (residues 1 to 901)
  AUTHORS   Thomas AC, Williams H, Seto-Salvia N, Bacchelli C, Jenkins D,
            O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C,
            Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ,
            Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P,
            Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H,
            Hurst J, Scott R, Bitner-Glindzicz M, Moore GE, Sousa SB and
            Stanier P.
  TITLE     Mutations in SNX14 cause a distinctive autosomal-recessive
            cerebellar ataxia and intellectual disability syndrome
  JOURNAL   Am J Hum Genet 95 (5), 611-621 (2014)
   PUBMED   25439728
  REMARK    GeneRIF: Mutations in SNX14 cause a distinctive autosomal-recessive
            cerebellar ataxia and intellectual disability syndrome.
            Erratum:[Am J Hum Genet. 2015 Jun 4;96(6):1008-9]
REFERENCE   6  (residues 1 to 901)
  AUTHORS   Worby CA and Dixon JE.
  TITLE     Sorting out the cellular functions of sorting nexins
  JOURNAL   Nat Rev Mol Cell Biol 3 (12), 919-931 (2002)
   PUBMED   12461558
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol. 2003 Feb;4(2):156.]
REFERENCE   7  (residues 1 to 901)
  AUTHORS   Xu Y, Seet LF, Hanson B and Hong W.
  TITLE     The Phox homology (PX) domain, a new player in phosphoinositide
            signalling
  JOURNAL   Biochem J 360 (Pt 3), 513-530 (2001)
   PUBMED   11736640
  REMARK    Review article
REFERENCE   8  (residues 1 to 901)
  AUTHORS   Teasdale RD, Loci D, Houghton F, Karlsson L and Gleeson PA.
  TITLE     A large family of endosome-localized proteins related to sorting
            nexin 1
  JOURNAL   Biochem J 358 (Pt 1), 7-16 (2001)
   PUBMED   11485546
REFERENCE   9  (residues 1 to 901)
  AUTHORS   Carroll P, Renoncourt Y, Gayet O, De Bovis B and Alonso S.
  TITLE     Sorting nexin-14, a gene expressed in motoneurons trapped by an in
            vitro preselection method
  JOURNAL   Dev Dyn 221 (4), 431-442 (2001)
   PUBMED   11500980
REFERENCE   10 (residues 1 to 901)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136082.22 and AL589666.5.
            On Apr 20, 2017 this sequence version replaced XP_016866581.1.
            
            Summary: This gene encodes a member of the sorting nexin family.
            Members of this family have a phox (PX) phosphoinositide binding
            domain and are involved in intracellular trafficking. The encoded
            protein also contains a regulator of G protein signaling (RGS)
            domain. Regulator of G protein signaling family members are
            regulatory molecules that act as GTPase activating proteins for G
            alpha subunits of heterotrimeric G proteins. Alternate splicing
            results in transcript variants encoding distinct isoforms.
            [provided by RefSeq, Jul 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.1532.1,
                                           SRR18074968.1353734.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..901
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.3"
     Protein         1..901
                     /product="sorting nexin-14 isoform j"
                     /calculated_mol_wt=104527
     Region          <136..254
                     /region_name="PXA"
                     /note="PXA domain; pfam02194"
                     /db_xref="CDD:426650"
     Region          295..421
                     /region_name="RGS_SNX14"
                     /note="Regulator of G protein signaling (RGS) domain found
                     in the Sorting Nexin14 (SNX14) protein; cd08722"
                     /db_xref="CDD:188677"
     Region          519..641
                     /region_name="PX_SNX14"
                     /note="The phosphoinositide binding Phox Homology domain
                     of Sorting Nexin 14; cd06877"
                     /db_xref="CDD:132787"
     Site            order(571..573,597..598,611)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:132787"
     Region          762..866
                     /region_name="Nexin_C"
                     /note="Sorting nexin C terminal; pfam08628"
                     /db_xref="CDD:430115"
     CDS             1..901
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /coded_by="NM_001350537.2:141..2846"
                     /note="isoform j is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS93958.1"
                     /db_xref="GeneID:57231"
                     /db_xref="HGNC:HGNC:14977"
                     /db_xref="MIM:616105"
ORIGIN      
        1 mvpwvrtmgq klkqrlrldv greicrqypl fcflllclsa aslllnryih ilmifwsfva
       61 gvvtfycslg pdsllpniff tikykpklgl qelfpqghsc avcgkvkckr hrpsllleny
      121 qpwldlkiss kvdaslsevd ipsiitkkll kaamkhievi vkarqkvknt eflqqaalee
      181 ygpelhvalr srrdelhylr kltellfpyi lppkatdcrs ltllireils gsvflpsldf
      241 ladpdtvnhl liifiddspp ekatepaspl vpflqkfaep rnkkpsvlkl elkqireqqd
      301 llfrfmnflk qegavhvlqf cltveefndr ilrpelsnde mlslheelqk iyktycldes
      361 idkirfdpfi veeiqriaeg pyidvvklqt mrclfeayeh vlsllenvft pmfchsdeyf
      421 rqllrgaesp trnsklnrgs lslddfrntq krgesfgisr igskikgvfk sttmegamlp
      481 nygvaegedd fieegivvme ddspveavst pntprnlaaw kisipyvdff edpsserkek
      541 keripvfcid verndrravg hepehwsvyr rylefyvles kltefhgafp daqlpskrii
      601 gpknyeflks kreefqeylq kllqhpelsn sqlladflsp nggetqfldk ilpdvnlgki
      661 iksvpgklmk ekgqhlepfi mnfinscesp kpkpsrpelt ilsptsennk klfndlfknn
      721 anraenterk qnqnyfmevm tvegvydylm yvgrvvfqvp dwlhhllmgt rilfkntlem
      781 ytdyylqckl eqlfqehrlv slitllrdai fcenteprsl qdkqkgakqt feemmnyipd
      841 llvkcigeet kyesirllfd glqqpvlnkq ltyvlldivi qelfpelnkv qkevtsvtsw
      901 m
//
LOCUS       XP_016855699            1420 aa            linear   PRI 20-MAR-2023
DEFINITION  forkhead-associated domain-containing protein 1 isoform X22 [Homo
            sapiens].
ACCESSION   XP_016855699
VERSION     XP_016855699.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017000210.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1420
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1420
                     /product="forkhead-associated domain-containing protein 1
                     isoform X22"
                     /calculated_mol_wt=163951
     Region          19..114
                     /region_name="FHA_FHAD1"
                     /note="forkhead associated (FHA) domain found in
                     forkhead-associated domain-containing protein 1 (FHAD1)
                     and similar proteins; cd22700"
                     /db_xref="CDD:438752"
     Region          36..>202
                     /region_name="VI_FHA"
                     /note="type VI secretion system FHA domain protein;
                     TIGR03354"
                     /db_xref="CDD:274537"
     Site            order(38..39,53..54,56,75,77..78)
                     /site_type="other"
                     /note="putative phosphopeptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438752"
     Region          261..1060
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          <901..>1414
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     CDS             1..1420
                     /gene="FHAD1"
                     /coded_by="XM_017000210.3:205..4467"
                     /db_xref="GeneID:114827"
                     /db_xref="HGNC:HGNC:29408"
ORIGIN      
        1 mtslepcrlf iygktermka ylksaegffv lnksttigrh ensdlvlqsp didnhhalie
       61 yneaecsfvl qdfnsrngtf vnechiqnva vklipgdilr fgsagltyel vienpppvsf
      121 pwmrgpapwp gpqppratqq pnqapppshi pfhqgvqpap mqrswsqafp rptvvlpash
      181 rrpvsankem fsfvvddark ppvikqvwtn amklseksva egipgavppa eiyveedlaq
      241 qdkdeiilll gkevsrlsdy eieskykdvi ianlqnevae lsqkvsettt srqnekeisq
      301 kcqvldedid akqkeiqslk sqisalqkgy skvlcqtlse rnseitslkn egenlkrdna
      361 itsgmvsslq kdilakdeqv qqlkeevshl ksqnkdkdhq lealgsrcsv lkeelkqeda
      421 hrelreaqek elklcktqiq dmekemkklr aelrkscteq svisrtlrek skveeklqed
      481 srrkllqlqe mgnresviki nleravgqle hfrsqvikat ygrakpfrdk pvtdqqliek
      541 itqvtednin fqqkkwtlqk etqlsnskqe ettenieklr tsldscqacm kisccshdlk
      601 kevdllqhlq vsppvsglqk vvldvlrhal swleeveqll rdlgilpssp nkgfslyliy
      661 llehykklms qaqelqikfn ssqetqqsll qeklrehlae keklneerle qeeklkakir
      721 qlteekaale eyitqernra ketleeerkr mqelesllaq qkkalaksit qeknrvkeal
      781 eeeqtrvqel eerlarqkev lessiahekr kakealesek rkvqdlenhl tqqkeisesn
      841 iayekrkake amekekkkvq dlenrltkqk eelelkeqke dvlnnklsda lamveetqkt
      901 kateslkaes lalklnetla elettktkmi mveerlilqq kmvkalqdeq esqrhgfeee
      961 imeykeqikq haqtivslee klqkvtqhhk kiegeiatlk dndpapkeer pqdplvapmt
     1021 essakdmaye hliddllaaq keilsqqevi mklrkdltea hsrmsdlrge lnekqkmele
     1081 qnvvlvqqqs kelsvlkekm aqmsslvekk drelkaleea lrasqekhrl qlntekeqkp
     1141 rkktqtcdts vqiepvhtea fsssqeqqsf sdlgvrckgs rheeviqrqk kalselrari
     1201 kelekarspd hkdhqnesfl dlknlrmenn vqkilldakp dlptlsriei lapqnglcna
     1261 rfgsameksg kmdvaealel seklyldmsk tlgslmnikn msghvsmkyl srqerekvnq
     1321 lrqrdldlvf dkitqlknql grkeellrgy ekdveqlrrs kvsiemyqsq vakleddiyk
     1381 eaeekallke alermehqlc qekrinrair qqkepsafgw
//
LOCUS       XP_047302520             302 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase Nek7 isoform X2 [Homo sapiens].
ACCESSION   XP_047302520
VERSION     XP_047302520.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446564.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..302
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..302
                     /product="serine/threonine-protein kinase Nek7 isoform X2"
                     /calculated_mol_wt=34420
     Region          33..294
                     /region_name="STKc_Nek6_7"
                     /note="Catalytic domain of the Serine/Threonine Kinases,
                     Never In Mitosis gene A (NIMA)-related kinase 6 and 7;
                     cd08224"
                     /db_xref="CDD:270863"
     Site            order(40..44,48,61,63,95,111..114,118,120,161,163,
                     165..166,168,179,182,184,198..201)
                     /site_type="active"
                     /db_xref="CDD:270863"
     Site            order(40..41,43..44,48,61,63,95,112..114,118,166,168,184)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270863"
     Site            order(44,118,120,161,163,165,182,198..201)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270863"
     Site            178..201
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270863"
     CDS             1..302
                     /gene="NEK7"
                     /coded_by="XM_047446564.1:238..1146"
                     /db_xref="GeneID:140609"
                     /db_xref="HGNC:HGNC:13386"
                     /db_xref="MIM:606848"
ORIGIN      
        1 mdeqsqgmqg ppvpqfqpqk alrpdmgynt lanfriekki grgqfsevyr aaclldgvpv
       61 alkkvqifdl mdakaradci keidllkqln hpnvikyyas fiednelniv leladagdls
      121 rmikhfkkqk rlipertvwk yfvqlcsale hmhsrrvmhr dikpanvfit atgvvklgdl
      181 glgrffsskt taahslvgtp yymsperihe ngynfksdiw slgcllyema alqspfygdk
      241 mnlyslckki eqcdypplps dhyseelrql vnmcinpdpe krpdvtyvyd vakrmhacta
      301 ss
//
LOCUS       XP_005245570             286 aa            linear   PRI 20-MAR-2023
DEFINITION  acidic leucine-rich nuclear phosphoprotein 32 family member E
            isoform X1 [Homo sapiens].
ACCESSION   XP_005245570
VERSION     XP_005245570.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005245513.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..286
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..286
                     /product="acidic leucine-rich nuclear phosphoprotein 32
                     family member E isoform X1"
                     /calculated_mol_wt=32759
     Region          34..146
                     /region_name="LRR_9"
                     /note="Leucine-rich repeat; pfam14580"
                     /db_xref="CDD:405295"
     Region          44..65
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          66..89
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          90..114
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..286
                     /gene="ANP32E"
                     /gene_synonym="LANP-L; LANPL"
                     /coded_by="XM_005245513.5:327..1187"
                     /db_xref="GeneID:81611"
                     /db_xref="HGNC:HGNC:16673"
                     /db_xref="MIM:609611"
ORIGIN      
        1 memkkkinle lrnrspeevt elvldnclcv ngeieglndt fkeleflsma nvelsslarl
       61 pslnklrkle lsdniisggl evlaekcpnl tylnlsgnki kdlstvealq nlknlksldl
      121 fnceitnled yresifellq qityldgfdq edneapdsee eddedgdedd eeeeeneagp
      181 pegyeeeeee eeeededede dedeagselg egeeevglsy lmkeeiqsek sygffnlqte
      241 ylnfkdeedd ddyveegeee eeeeegglrg ekrkrdaedd geeedd
//
LOCUS       XP_011538054             240 aa            linear   PRI 20-MAR-2023
DEFINITION  lipase member M isoform X3 [Homo sapiens].
ACCESSION   XP_011538054
VERSION     XP_011538054.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011539752.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..240
                     /product="lipase member M isoform X3"
                     /calculated_mol_wt=27192
     CDS             1..240
                     /gene="LIPM"
                     /gene_synonym="bA304I5.1; LIPL3"
                     /coded_by="XM_011539752.4:86..808"
                     /db_xref="GeneID:340654"
                     /db_xref="HGNC:HGNC:23455"
                     /db_xref="MIM:613923"
ORIGIN      
        1 mgfiafstmp elaqkikmyf alapiatvkh akspgtkfll lpdmmikglf gkkeflyqtr
       61 flrqlviylc gqvildqics nimlllggfn tnnmnmnthg llqsrasvya ahtlagtsvq
      121 nilhwsqavn sgelrafdwg setknlekcn qptpvryrvr dmtvptamwt ggqdwlsnpe
      181 dvkmllsevt nliyhknipe wahvdfiwgl daphrmynei ihlmqqeetn lsqgrceavl
//
LOCUS       XP_047281857             969 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box DNA helicase 1 isoform X9 [Homo sapiens].
ACCESSION   XP_047281857
VERSION     XP_047281857.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425901.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..969
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..969
                     /product="F-box DNA helicase 1 isoform X9"
                     /calculated_mol_wt=108973
     Region          137..184
                     /region_name="F-box_FBXO18"
                     /note="F-box domain found in F-box only protein 18
                     (FBXO18) and similar proteins; cd22095"
                     /db_xref="CDD:438867"
     Site            order(141,145,148..149,152..153,157,159..160,165..167,169)
                     /site_type="other"
                     /note="putative Skp1 binding site [polypeptide binding]"
                     /db_xref="CDD:438867"
     Region          366..858
                     /region_name="UvrD"
                     /note="Superfamily I DNA or RNA helicase [Replication,
                     recombination and repair]; COG0210"
                     /db_xref="CDD:223288"
     CDS             1..969
                     /gene="FBH1"
                     /gene_synonym="Fbx18; FBXO18; hFBH1"
                     /coded_by="XM_047425901.1:402..3311"
                     /db_xref="GeneID:84893"
                     /db_xref="HGNC:HGNC:13620"
                     /db_xref="MIM:607222"
ORIGIN      
        1 maksnsvgqd scqdsegdmi fpaesscalp qegsagpgsp gsappsrkrs wsseeesnqa
       61 tgtsrwdgvs kkaprhhlsv pctrprearq eaedstsrls aesgetdqda gdvgpdpipd
      121 syygllgtlp cqealshics lpsevlrhvf aflpvedlyw nlslvchlwr eiisdplfip
      181 wkklyhrylm neeqavskvd gilsncgiek esdlcvlnli rytattkcsp svdpervlws
      241 lrdhpllpea eacvrqhlpd lyaaaggvni walvaavvll sssvndiqrl lfclrrpsst
      301 vtmpdvtetl yciavllyam rekginisnr ihynifycly lqensctqat kvkeepsvwp
      361 gkktiqlthe qqlilnhkme plqvvkimaf agtgktstlv kyaekwsqsr flyvtfnksi
      421 akqaervfps nvicktfhsm ayghigrkyq skkklnlfkl tpfmvnsvla egkggfirak
      481 lvcktlenff asadeeltid hvpiwcknsq gqrvmveqse klngvleasr lwdnmrklge
      541 cteeahqmth dgylklwqls kpslasfdai fvdeaqdctp aimnivlsqp cgkifvgdph
      601 qqiytfrgav nalftvphth vfyltqsfrf gveiayvgat ildvckrvrk ktlvggnhqs
      661 girgdakgqv allsrtnanv fdeavrvteg efpsrihlig giksfgldri idiwillqpe
      721 eerrkqnlvi kdkfirrwvh kegfsgfkry vtaaedkele akiavvekyn iripelvqri
      781 ekchiedldf aeyilgtvhk akglefdtvh vlddfvkvpc arhnlpqlph frvesfsede
      841 wnllyvavtr akkrlimtks leniltlage yflqaeltsn vlktgvvrcc vgqcnnaipv
      901 dtvltmkklp itysnrkenk ggylchscae qrigplaflt aspeqvrame rtvenivlpr
      961 heallflvf
//
LOCUS       XP_011518138             426 aa            linear   PRI 20-MAR-2023
DEFINITION  protein arginine N-methyltransferase 3 isoform X2 [Homo sapiens].
ACCESSION   XP_011518138
VERSION     XP_011518138.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011519836.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..426
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..426
                     /product="protein arginine N-methyltransferase 3 isoform
                     X2"
                     /calculated_mol_wt=48005
     Region          154..254
                     /region_name="AdoMet_MTases"
                     /note="S-adenosylmethionine-dependent methyltransferases
                     (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes
                     that use S-adenosyl-L-methionine (SAM or AdoMet) as a
                     substrate for methyltransfer, creating the product
                     S-adenosyl-L-homocysteine (AdoHcy); cd02440"
                     /db_xref="CDD:100107"
     Site            order(157..163,180..181,206..208,224)
                     /site_type="other"
                     /note="S-adenosylmethionine binding site [chemical
                     binding]"
                     /db_xref="CDD:100107"
     CDS             1..426
                     /gene="PRMT3"
                     /gene_synonym="HRMT1L3"
                     /coded_by="XM_011519836.3:510..1790"
                     /db_xref="GeneID:10196"
                     /db_xref="HGNC:HGNC:30163"
                     /db_xref="MIM:603190"
ORIGIN      
        1 mnsiynpvpw ekeeylkpvl eddlllqfdv edlyepvsvp fsypnglsen tsvveklkhm
       61 earalsaeaa lararedlqk mkqfaqdfvm htdvrtcsss tsviadlqed edgvyfssyg
      121 hygiheemlk dkirtesyrd fiyqnphifk dkvvldvgcg tgilsmfaak agakkvlgvd
      181 qseilyqamd iirlnkledt itlikgkiee vhlpvekvdv iisewmgyfl lfesmldsvl
      241 yaknkylakg gsvypdicti slvavsdvnk hadriafwdd vygfkmscmk kavipeavve
      301 vldpktlise pcgikhidch ttsisdlefs sdftlkitrt smctaiagyf diyfeknchn
      361 rvvfstgpqs tkthwkqtvf llekpfsvka gealkgkvtv hknkkdprsl tvtltlnnst
      421 qtyglq
//
LOCUS       XP_047282187             602 aa            linear   PRI 20-MAR-2023
DEFINITION  RAS guanyl-releasing protein 2 isoform X4 [Homo sapiens].
ACCESSION   XP_047282187
VERSION     XP_047282187.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426231.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..602
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..602
                     /product="RAS guanyl-releasing protein 2 isoform X4"
                     /calculated_mol_wt=68291
     Region          22..114
                     /region_name="RasGEFN"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     GTPases; N-terminal motif; smart00229"
                     /db_xref="CDD:214571"
     Site            order(62,66..67,70,73..74,109..110,113)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:100121"
     Region          143..380
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases; smart00147"
                     /db_xref="CDD:214539"
     Site            order(176..178,186..187,189..191,193..194,197..198,201,
                     234,237..238,240..242,244..247,249..250,270,273,278..280,
                     283,296..298,301..303,305..307,309..312,329,333,368,
                     371..372)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     Region          423..474
                     /region_name="EFh"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     cd00051"
                     /db_xref="CDD:238008"
     Site            order(432,434,436,443,461,463,465,472)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238008"
     Region          489..544
                     /region_name="C1_RASGRP2"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in RAS guanyl-releasing protein 2 (RASGRP2) and
                     similar proteins; cd20861"
                     /db_xref="CDD:410411"
     CDS             1..602
                     /gene="RASGRP2"
                     /gene_synonym="CALDAG-GEFI; CDC25L"
                     /coded_by="XM_047426231.1:964..2772"
                     /db_xref="GeneID:10235"
                     /db_xref="HGNC:HGNC:9879"
                     /db_xref="MIM:605577"
ORIGIN      
        1 mvaadpaqpp vfdpsesdds gkvrdpqlvr mflmmhpwyi pssqlaakll hiyqqsrkdn
       61 snslqvktch lvrywisafp aefdlnpela eqikelkall dqegnrrhss lididsvpty
      121 kwkrqvtqrn pvgqkkrkms llfdhlepme laehltyley rsfckilfqd yhsfvthgct
      181 vdnpvlerfi slfnsvsqwv qlmilskpta pqralvithf vhvaekllql qnfntlmavv
      241 gglshssisr lkethshvsp etiklweglt elvtatgnyg nyrrrlaacv gfrfpilgvh
      301 lkdlvalqla lpdwldpart rlngakmkql fsileelamv tslrppvqan pdllslltvs
      361 ldqyqtedel yqlslqrepr skssptspts ctppprppvl eewtsaakpk ldqalvvehi
      421 ekmvesvfrn fdvdgdghis qeefqiirgn fpylsafgdl dqnqdgcisr eemvsyflrs
      481 ssvlggrmgf vhnfqesnsl rpvacrhcka lilgiykqgl kcracgvnch kqckdrlsve
      541 crrraqsvsl egsapspspm hshhhrafsf slprpgrrgs rppeireeev qtvedgvfdi
      601 hl
//
LOCUS       XP_047282466             250 aa            linear   PRI 20-MAR-2023
DEFINITION  UDP-N-acetylglucosamine--dolichyl-phosphate
            N-acetylglucosaminephosphotransferase isoform X5 [Homo sapiens].
ACCESSION   XP_047282466
VERSION     XP_047282466.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426510.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..250
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..250
                     /product="UDP-N-acetylglucosamine--dolichyl-phosphate
                     N-acetylglucosaminephosphotransferase isoform X5"
                     /calculated_mol_wt=27936
     Region          29..>244
                     /region_name="GT_GPT_euk"
                     /note="UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase (GPT)
                     catalyzes the transfer of GlcNAc-1-P from UDP-GlcNAc to
                     dolichol-P to form GlcNAc-P-P-dolichol. The reaction is
                     the first step in the assembly of dolichol-linked
                     oligosaccharide intermediates and is...; cd06855"
                     /db_xref="CDD:133465"
     Site            115..116
                     /site_type="other"
                     /note="Mg++ binding site [ion binding]"
                     /db_xref="CDD:133465"
     CDS             1..250
                     /gene="DPAGT1"
                     /gene_synonym="ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2;
                     D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT"
                     /coded_by="XM_047426510.1:199..951"
                     /db_xref="GeneID:1798"
                     /db_xref="HGNC:HGNC:2995"
                     /db_xref="MIM:191350"
ORIGIN      
        1 mwafselpmp llinlivsll gfvatvtlip afrghfiaar lcgqdlnkts rqqipesqgv
       61 isgavfliil fcfipfpfln cfvkeqckaf phhefvalig allaiccmif lgfaddvlnl
      121 rwrhklllpt aaslpllmvy ftnfgnttiv vpkpfrpilg lhldlgilyy vymgllavfc
      181 tnainilagi ngleagqslv isasiivfnl velegdcrdd hvfslyfmip fffttlglly
      241 hnwwqrassw
//
LOCUS       XP_047282705             247 aa            linear   PRI 20-MAR-2023
DEFINITION  growth arrest-specific protein 2 isoform X4 [Homo sapiens].
ACCESSION   XP_047282705
VERSION     XP_047282705.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426749.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..247
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..247
                     /product="growth arrest-specific protein 2 isoform X4"
                     /calculated_mol_wt=27410
     Region          29..163
                     /region_name="CH_SF"
                     /note="calponin homology (CH) domain superfamily; cl00030"
                     /db_xref="CDD:444660"
     Site            order(40,108,110..111,114..115,117,131..135,141,143..144,
                     146..147,150..151,154)
                     /site_type="other"
                     /note="actin binding site [polypeptide binding]"
                     /db_xref="CDD:409031"
     Region          202..>242
                     /region_name="GAS2"
                     /note="Growth-Arrest-Specific Protein 2 Domain; cl02524"
                     /db_xref="CDD:445813"
     CDS             1..247
                     /gene="GAS2"
                     /gene_synonym="GAS-2"
                     /coded_by="XM_047426749.1:310..1053"
                     /db_xref="GeneID:2620"
                     /db_xref="HGNC:HGNC:4167"
                     /db_xref="MIM:602835"
ORIGIN      
        1 mctalspkvr sgpglsdmhq ysqwlasrhe anllpmkedl alwltnllgk eitaetfmek
       61 ldngallcql aetmqekfke smdankptkn lplkkipckt sapsgsffar dntanflswc
      121 rdlgvdetcl feseglvlhk qprevclcll elgriaaryg veppglikle keieqeetls
      181 apspspspss kssgkkstgn llddavkris edppckcpnk fcverlsqgr yrvgekilfi
      241 rmgklrh
//
LOCUS       XP_016873381             680 aa            linear   PRI 20-MAR-2023
DEFINITION  PHD finger protein 21A isoform X6 [Homo sapiens].
ACCESSION   XP_016873381
VERSION     XP_016873381.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017892.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..680
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..680
                     /product="PHD finger protein 21A isoform X6"
                     /calculated_mol_wt=74723
     Region          <111..318
                     /region_name="DUF5585"
                     /note="Family of unknown function (DUF5585); pfam17823"
                     /db_xref="CDD:436069"
     Region          <374..536
                     /region_name="TNG2"
                     /note="Chromatin remodeling protein, contains PhD zinc
                     finger [Chromatin structure and dynamics]; COG5034"
                     /db_xref="CDD:227367"
     Region          490..532
                     /region_name="PHD_PHF21A"
                     /note="PHD finger found in PHD finger protein 21A
                     (PHF21A); cd15523"
                     /db_xref="CDD:276998"
     Site            order(490,497..502,522..525,527)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:276998"
     CDS             1..680
                     /gene="PHF21A"
                     /gene_synonym="BHC80; BM-006; IDDBCS; NEDMS"
                     /coded_by="XM_017017892.2:757..2799"
                     /db_xref="GeneID:51317"
                     /db_xref="HGNC:HGNC:24156"
                     /db_xref="MIM:608325"
ORIGIN      
        1 melqtlqeal kveiqvhqkl vaqmkqdpqn adlkkqlhel qakitalsek qkrvveqlrk
       61 nlivkqeqpd kfqiqplpqs enklqtaqqq plqqlqqqqq yhhhhaqqsa aaspnltasq
      121 tvttasmitt ktlplvlkaa tatmpasvvg qrptiamvta insqkavlst dvqntpvnlq
      181 tsskvtgpga eavqivaknt vtlqvqatpp qpikvpqfip pprltprpnf lpqvrpkpva
      241 qnnipiapap ppmlaapqli qrpvmltkft pttlptsqns ihpvrvvngq tatiaktfpm
      301 aqltsiviat pgtrlagpqt vqlskpslek qtvkshtetd ekqtesrtit ppaapkpkre
      361 enpqklafmv slglvthdhl eeiqskrqer krrttanpvy sgavfeperk ksavtylnst
      421 mhpgtrkrgr ppkynavlgf galtptspqs shpdspenek tettftfpap vqpvslpspt
      481 stdgdihedf csvcrksgql lmcdtcsrvy hldcldpplk tipkgmwicp rcqdqmlkke
      541 eaipwpgtla ivhsyiayka akeeekqkll kwssdlkqer eqleqkvkql snsiskcmem
      601 kntilarqke mhsslekvkq lirlihgidl skpvdseatv gaisngpdct ppanaatstp
      661 apspssqsct ancnqgeetk
//
LOCUS       XP_011543527             680 aa            linear   PRI 20-MAR-2023
DEFINITION  calpain-5 isoform X1 [Homo sapiens].
ACCESSION   XP_011543527
VERSION     XP_011543527.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011545225.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..680
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..680
                     /product="calpain-5 isoform X1"
                     /calculated_mol_wt=77162
     Region          67..381
                     /region_name="Peptidase_C2"
                     /note="Calpain family cysteine protease; pfam00648"
                     /db_xref="CDD:425798"
     Site            order(121,292,324)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:238004"
     Region          392..538
                     /region_name="Calpain_III"
                     /note="Calpain, subdomain III. Calpains are
                     calcium-activated cytoplasmic cysteine proteinases,
                     participate in cytoskeletal remodeling processes, cell
                     differentiation, apoptosis and signal transduction.
                     Catalytic domain and the two calmodulin-like domains
                     are...; cd00214"
                     /db_xref="CDD:238132"
     Region          555..678
                     /region_name="C2_Calpain"
                     /note="C2 domain present in Calpain proteins; cd04046"
                     /db_xref="CDD:176011"
     CDS             1..680
                     /gene="CAPN5"
                     /gene_synonym="ADNIV; HTRA3; nCL-3; VRNI"
                     /coded_by="XM_011545225.1:187..2229"
                     /db_xref="GeneID:726"
                     /db_xref="HGNC:HGNC:1482"
                     /db_xref="MIM:602537"
ORIGIN      
        1 msctgtpsci yllsalslqd lvldweprgv ppplpgaaat mfscvkpyed qnysalrrdc
       61 rrrkvlfedp lfpatddsly ykgtpgpavr wkrpkgiced prlfvdgiss hdlhqgqvgn
      121 cwfvaacssl asreslwqkv ipdwkeqewd pekpnayagi fhfhfwrfge wvdvviddrl
      181 ptvnnqliyc hsnsrnefwc alvekayakl agcyqaldgg ntadalvdft ggvsepidlt
      241 egdfandetk rnqlfermlk vhsrgglisa sikavtaadm earlacglvk ghayavtdvr
      301 kvrlghglla ffksekldmi rlrnpwgere wngpwsdtse ewqkvskser ekmgvtvqdd
      361 gefwmtfedv cryftdiikc rvintshlsi hktweearlh gawtlhedpr qnrgggcinh
      421 kdtffqnpqy ifevkkpede vliciqqrpk rstrregkge nlaigfdiyk veenrqyrmh
      481 slqhkaassi yinsrsvflr tdqpegryvi ipttfepght gefllrvftd vpsncrelrl
      541 depphtcwss lcgypqlvtq vhvlgaaglk dsptgansyv iikcegdkvr savqkgtstp
      601 eynvkgifyr kklsqpitvq vwnhrvlkde flgqvhlkad pdnlqalhtl hlrdrnsrqp
      661 snlpgtvavh ilsstslmav
//
LOCUS       XP_047283520             648 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 202 isoform X1 [Homo sapiens].
ACCESSION   XP_047283520
VERSION     XP_047283520.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427564.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..648
                     /product="zinc finger protein 202 isoform X1"
                     /calculated_mol_wt=74590
     Region          43..153
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Region          237..297
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          397..>644
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          399..419
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(404,406,408,410..411,414..415,418,432,434,438..439,
                     442..443,446,488,490,492,494..495,498..499,502)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          427..447
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          483..503
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          511..531
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          539..559
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          567..587
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(572,574,576,578..579,582..583,586,600,602,606..607,
                     610..611,614,628,630,632,634..635,638..639,642)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          595..615
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          623..643
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..648
                     /gene="ZNF202"
                     /gene_synonym="ZKSCAN10; ZSCAN42"
                     /coded_by="XM_047427564.1:1258..3204"
                     /db_xref="GeneID:7753"
                     /db_xref="HGNC:HGNC:12994"
                     /db_xref="MIM:603430"
ORIGIN      
        1 matavepedq dlweeegilm vkleddftcr pesvlqrddp vletshqnfr rfryqeaasp
       61 realirlrel chqwlrperr tkeqilellv leqfltvlpg elqswvrgqr pesgeeavtl
      121 veglqkqprr prrwvtvhvh gqevlseetv hlgvepespn elqdpvqsst peqspeettq
      181 spdlgapaeq rphqeeelqt lqesevpvpe dpdlpaerss gdsemvallt alsqglvtfk
      241 dvavcfsqdq wsdldptqke fygeyvleed cgivvslsfp iprpdeisqv reeepwvpdi
      301 qepqetqepe ilsftytgdr skdeeecleq edlsledihr pvlgepeihq tpdweivfed
      361 npgrlnerrf gtnisqvnsf vnlrettpvh pllgrhhdcs vcgksftcns hlvrhlrtht
      421 gekpykcmec gksytrsshl arhqkvhkmn apykyplnrk nleetspvtq aertpsvekp
      481 yrcddcgkhf rwtsdlvrhq rthtgekpff cticgksfsq ksvltthqri hlggkpylcg
      541 ecgedfsehr rylahrktha aeelylcsec grcfthsaaf akhlrghasv rpcrcnecgk
      601 sfsrrdhlvr hqrthtgekp ftcptcgksf srgyhlirhq rthsekts
//
LOCUS       XP_047284663            1498 aa            linear   PRI 20-MAR-2023
DEFINITION  golgin subfamily A member 3 isoform X1 [Homo sapiens].
ACCESSION   XP_047284663
VERSION     XP_047284663.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428707.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1498
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1498
                     /product="golgin subfamily A member 3 isoform X1"
                     /calculated_mol_wt=167224
     Region          <393..743
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          630..1358
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1498
                     /gene="GOLGA3"
                     /gene_synonym="GCP170; MEA-2"
                     /coded_by="XM_047428707.1:435..4931"
                     /db_xref="GeneID:2802"
                     /db_xref="HGNC:HGNC:4426"
                     /db_xref="MIM:602581"
ORIGIN      
        1 mdgasaeqdg lqedrshsgp sslpeaplkp pgplvppdqq dkvqcaevnr astegespdg
       61 pgqgglcqng ptppfpdpps sldpttspvg pdaspgvagf hdnlrksqgt saegsvrkea
      121 lqslrlslpm qetqlcstds plplekeeqv rlqarkwlee qlkqyrvkrq qerssqpatk
      181 trlfstldpe lmlnpenlpr astlamtkey sflrtsvprg pkvgslglpa hprekktsks
      241 skirsladyr tedsnagnsg gnvpapdstk gslkqnrssa asvvseisls pdtddrlent
      301 slagdsvsev dgndsdsssy ssastrgtyg ilsktvgtqd tpymvngqei padtlgqfps
      361 ikdvlqaaaa ehqdqgqevn gevrsrrdsi cssvslessa aetqeemlqv lkekmrlegq
      421 lealsleasq alkekaelqa qlaalstklq aqvecshssq qrqdslssev dtlkqscwdl
      481 eramtdlqnm leaknaslas snndlqvaee qyqrlmakve dmqrsmlskd ntvhdlrqqm
      541 talqsqlqqv qlerttltsk lkasqaeiss lqsvrqwyqq qlalaqearv rlqgemahiq
      601 vgqmtqagll ehlklenvsl sqqltetqhr smkekgriaa qlqgieadml dqeaafmqiq
      661 eaktmveedl qrrleefege rerlqrmads aasleqqleq vkltllqrdq qlealqqehl
      721 dlmkqltltq ealqsreqsl dalqthydel qarlgelqge aasredticl lqnekiilea
      781 alqaaksgke eldrgarrle egteetsetl eklreelaik sgqvehlqqe taalkkqmqk
      841 ikeqflqqkv mveayrrdat skdqliselk atrkrldsel kelrqelmqv hgekrtaeae
      901 lsrlhrevaq vrqhmadleg hlqsaqkerd emethlqslq fdkeqmvavt eanealkkqi
      961 eelqqearka iteqkqkmrr lgsdltsaqk emktkhkaye navgilsrrl qealaakeaa
     1021 daelgqlraq ggssdsslal heriqaleae lqavshsktl lekelqevia ltsqeleesr
     1081 ekvleledel qesrgfrkki krleesnkkl alelehekgk ltglgqsnaa lrehnsilet
     1141 alakreadlv qlnlqvqavl qrkeeedrqm khlvqalqas lekekekvns lkeqvaaakv
     1201 eaghnrrhfk aaslelsevk kelqakehlv qklqaeaddl qiregkhsqe iaqfqaelae
     1261 araqlqllqk qldeqlskqp vgnqemenlk wevdqkerei qslkqqldlt eqqgrkeleg
     1321 lqqllqnvks elemaqedls mtqkdkfmlq akvselknnm ktllqqnqql kldlrrgaak
     1381 trkepkgeas ssnpatpiki pdcpvpasll eellrpppav skeplknlns clqqlkqemd
     1441 slqrqmeeha ltvheslssw tplepatasp vppgghagpr gdpqrhsqsr askegpge
//
LOCUS       XP_011536932             922 aa            linear   PRI 20-MAR-2023
DEFINITION  transient receptor potential cation channel subfamily V member 4
            isoform X1 [Homo sapiens].
ACCESSION   XP_011536932
VERSION     XP_011536932.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011538630.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Jun 6, 2016 this sequence version replaced XP_011536932.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..922
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..922
                     /product="transient receptor potential cation channel
                     subfamily V member 4 isoform X1"
                     /calculated_mol_wt=103491
     Region          154..885
                     /region_name="TRPV4"
                     /note="Transient Receptor Potential channel, Vanilloid
                     subfamily (TRPV), type 4; cd22195"
                     /db_xref="CDD:411979"
     Site            order(288,290,294..295,298..300,302..303,307,310,319,335,
                     337,341..342,345..347,349..350,354,357,369,371,373,
                     377..378,381..383,394..395,399,402)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          288..319
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(298,300,323..324,332..333,335,345,382,389,392,460,
                     462..465,541,599,602..603,606,624,626,628,630..631,
                     634..635,638,653..654,657,661,665,671,675,679,682,
                     685..686,722,725..726,729,731,739,743,745..747,749..751,
                     756,758..759,761..763,766,769..770,772..774,776,836,839)
                     /site_type="other"
                     /note="tetramer interface [polypeptide binding]"
                     /db_xref="CDD:411979"
     Region          335..369
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          371..408
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..922
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /coded_by="XM_011538630.3:1039..3807"
                     /db_xref="GeneID:59341"
                     /db_xref="HGNC:HGNC:18083"
                     /db_xref="MIM:605427"
ORIGIN      
        1 mrmggsnhpf llgvvvkleg dtvsarvvpw ysitnllcdl rlssadgpga gmadssegpr
       61 agpgevaelp gdesgtpgge afplsslanl fegedgslsp spadasrpag pgdgrpnlrm
      121 kfqgafrkgv pnpidllest lyessvvpgp kkapmdslfd ygtyrhhssd nkrwrkkiie
      181 kqpqspkapa pqpppilkvf nrpilfdivs rgstadldgl lpfllthkkr ltdeefreps
      241 tgktclpkal lnlsngrndt ipvlldiaer tgnmrefins pfrdiyyrgq talhiaierr
      301 ckhyvellva qgadvhaqar grffqpkdeg gyfyfgelpl slaactnqph ivnyltenph
      361 kkadmrrqds rgntvlhalv aiadntrent kfvtkmydll llkcarlfpd snleavlnnd
      421 glsplmmaak tgkigifqhi irrevtdedt rhlsrkfkdw aygpvyssly dlssldtcge
      481 easvleilvy nskienrhem lavepinell rdkwrkfgav sfyinvvsyl camviftlta
      541 yyqplegtpp ypyrttvdyl rlagevitlf tgvlffftni kdlfmkkcpg vnslfidgsf
      601 qllyfiysvl vivsaalyla gieaylavmv falvlgwmna lyftrglklt gtysimiqki
      661 lfkdlfrfll vyllfmigya salvsllnpc anmkvcnedq tnctvptyps crdsetfstf
      721 lldlfkltig mgdlemlsst kypvvfiill vtyiiltfvl llnmlialmg etvgqvskes
      781 khiwklqwat tildiersfp vflrkafrsg emvtvgkssd gtpdrrwcfr vdevnwshwn
      841 qnlgiinedp gknetyqyyg fshtvgrlrr drwssvvprv velnknsnpd evvvpldsmg
      901 nprcdghqqg yprkwrtdda pl
//
LOCUS       XP_016876011             121 aa            linear   PRI 20-MAR-2023
DEFINITION  arachidonate 5-lipoxygenase-activating protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_016876011
VERSION     XP_016876011.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017020522.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..121
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..121
                     /product="arachidonate 5-lipoxygenase-activating protein
                     isoform X1"
                     /calculated_mol_wt=13743
     Region          <18..88
                     /region_name="MAPEG"
                     /note="MAPEG family; pfam01124"
                     /db_xref="CDD:426065"
     CDS             1..121
                     /gene="ALOX5AP"
                     /gene_synonym="FLAP"
                     /coded_by="XM_017020522.3:227..592"
                     /db_xref="GeneID:241"
                     /db_xref="HGNC:HGNC:436"
                     /db_xref="MIM:603700"
ORIGIN      
        1 mrlqeeknmh lillsenqnc vdayptflav lwsagllcsq vpaafaglmy lfvrqkyfvg
       61 ylgertqstp gyifgkriil flflmsvagi fnyylifffg sdfenyikti sttispllli
      121 p
//
LOCUS       XP_047287398            1390 aa            linear   PRI 20-MAR-2023
DEFINITION  ninein isoform X15 [Homo sapiens].
ACCESSION   XP_047287398
VERSION     XP_047287398.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431442.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1390
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1390
                     /product="ninein isoform X15"
                     /calculated_mol_wt=161273
     Region          <316..530
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     Region          425..1217
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1390
                     /gene="NIN"
                     /gene_synonym="SCKL7"
                     /coded_by="XM_047431442.1:233..4405"
                     /db_xref="GeneID:51199"
                     /db_xref="HGNC:HGNC:14906"
                     /db_xref="MIM:608684"
ORIGIN      
        1 mdeveqdqhe arlkelfdsf dttgtgslgq eeltdlchml sleevapvlq qtllqdnllg
       61 rvhfdqfkea lililsrtls neehfqepdc sleaqpkyvr ggkrygrrsl pefqesveef
      121 pevtviepld eearpshipa gdcsehwktq rseeyeaegq lrfwnpddln asqsgssppq
      181 dwieeklqev cedlgitrdg hlnrkklvsi ceqyglqnvd gemleevfhn ldpdgtmsve
      241 dffyglfkng ksltpsastp yrqlkrhlsm qsfdesgrrt ttssamtsti gfrvfscldd
      301 gmghasveri ldtwqeegie nsqeilkald fsldgninlt eltlalenel lvtknsihqa
      361 alasfkaeir hllervdqvv rekeklrsdl dkaeklkslm asevddhhaa ierrneynlr
      421 kldeeykeri aalknelrke reqilqqagk qrleleqeie kakteenyir drlalslken
      481 srlenellen aeklaeyenl tnklqrnlen vlaekvlqdq vdelqselee yraqgrvlrl
      541 plknspseev eansggiepe hglgseecnp lnmsieaelv ieqmkeqhhr dicclrlele
      601 dkvrhyekql detvvsckka qenmkqrhen ethtlekqis dlkneiaelq gqaavlkeah
      661 heatcrheee kkqlqvklee ekthlqeklr lqhemelkar ltqaqasfer ereglqssaw
      721 teekvrgltq eleqfhqeql tslvekhtle keelrkelle khqrelqegr yeseklqqen
      781 silrneittl needsisnlk lgtlngsqee mwqktetvkq enaavqkmve nlkkqiselk
      841 iknqqldlen telsqknsqn qeklqelnqr ltemlcqkek epgnsaleer eqekfnlkee
      901 lerckvqsst lvssleaels evkiqthivq qenhllkdel ekmkqlhrcp dlsdfqqkis
      961 svlsynekll kekealseel nscvdklaks sllehriatm kqeqkswehq saslksqlva
     1021 sqekvqnled tvqnvnlqms rmksdlrvtq qekealkqev mslhkqlqna ggkswapeia
     1081 thpsglhnqq krlswdkldh lmneeqqllw qenerlqtmv qntkaelths rekvrqlesn
     1141 llpkhqkhln psgtmnpteq eklslkrecd qfqkeqspan rkvsqmnsle qeletihlen
     1201 eglkkkqvkl deqlmemqhl rstatpspsp hawdlqllqq qacpmvpreq flqlqrqllq
     1261 aerinqhlqe elenrtsetn tpqgnqeqlv tvmeermiev eqklklvkrl lqekvnqlke
     1321 qlckntkada mvkdlyvena qllkalevte qrqktaekkn ylleekiasl snivrnltpa
     1381 pltstpplrs
//
LOCUS       XP_047290061            3349 aa            linear   PRI 20-MAR-2023
DEFINITION  putative uncharacterized protein LOC400499 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047290061
VERSION     XP_047290061.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434105.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3349
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..3349
                     /product="putative uncharacterized protein LOC400499
                     isoform X2"
                     /calculated_mol_wt=366278
     Region          50..585
                     /region_name="Vitellogenin_N"
                     /note="Lipoprotein amino terminal region; pfam01347"
                     /db_xref="CDD:396081"
     Region          618..910
                     /region_name="DUF1943"
                     /note="Domain of unknown function (DUF1943); pfam09172"
                     /db_xref="CDD:430448"
     Region          3255..3316
                     /region_name="C8"
                     /note="C8 domain; pfam08742"
                     /db_xref="CDD:430184"
     CDS             1..3349
                     /gene="LOC400499"
                     /coded_by="XM_047434105.1:403..10452"
                     /db_xref="GeneID:400499"
ORIGIN      
        1 mpapvgllgl vllwplmavt aekipdsqvg qvascmtact gsagphlpvg trytyhfstn
       61 tstslqdvlv egsglglqgl avldvlglcq malwlqdfqv tsilgakvel lkeseslsat
      121 lgrnplrfil hsgrvahlcp hpteprwvln vkravlsllq ghpgahspkt fdevdilgrc
      181 pttyqhhgdw lhktkdlarc slrrgrsslh sqalpgvapg ltsrltcvqs fragvlreas
      241 cteldsagpl pakasavqmr tlsslsllhe mpqdpagtdp ddrddedmtp ssllyeweet
      301 psqamvataa tlvrrlclaq ttsleamdlf ltlvsqlqgl sggelmelwq yssfkcrdng
      361 qplldalpsc gtehcvglmk eliasaavea deveawlssl aflpqptdam vhmllpllqt
      421 praspgaflg isalvhnlca sldgpcgqlp gvgslvrilg dalgenctiq epsdddklql
      481 vlkavgnagl aamaltptls acaslrsstp eirlgaiqaf rrvpcsadrs vlsrlyqsle
      541 edaeirinay lalmrcpsee vfaqvrrtqa gelstqvgsf vwshilqlle thdplkralr
      601 dtlpedilsq efhpemwkhs sysdvtfrsv sgslganleg tllfspasfl prsatvnlti
      661 htmgrafnll elglrlenae eiahrlfgrk sfwgqedgre pepeeppgpe pgpapqpasp
      721 ecpgdrdrrm rylqqkvtrr rgarqalrce lsvkllgqel sfvncgatgs hvnhwplnla
      781 elaiklmkgq evqmnrrlsl aaqelvfptv sglparltln asaaisirvr gttdfqqrsd
      841 fsvngyvkps allqisaqmg tagilgqagl rwvtsvrsaa sldggiqvqk grvlkvhlnt
      901 peeavellsf ssqlylitrd gvrslrhvpg psevqsctge evsytwgwrl ctgvtwpvpg
      961 qpyllslpvf aavtlqkrdp glrqylleaa ytlqpqkgsw fpqeatahvf mgtpgsevlr
     1021 dvgvdmsysl pqnkfrlkll hpkkkieldg kmealgsaht ghlelvlddr dvyyikgwsd
     1081 lqpamggeae rfqaqlevkl vtggspvvft gnltrqvgsk lafsaslshl lsdqanvtal
     1141 lerkeengrr vaalgaelfv pglvglralg llqqrgqlwt nslriqysll gqakqaahec
     1201 stsqklrads gsdgayrlel rhelhctqil afshkvqlwh eedsghlhsq levsygkhwd
     1261 knsnkrhlrv sqtfkndsgp alsnhfmefv lqvperqvdc rvqlyhlslr lpyvessshl
     1321 kvqyngrplf vaggqwkdts ratlwkwega lnldspwlmv saahrlywph ravfqavlel
     1381 tlgkawtlkd lvvsvgcrsq gpnregkiqv ytaattylrv stvtvlaqsl fhswselesa
     1441 wnaavqgeih aensrdrkil ncwlkgpqqe lnltaayrhl ewprktqvsl tavrigaqgq
     1501 prglqlegel eelrqdrtly rkrgalllrh plhlpipqsl llqetftadr rhqrysletr
     1561 vvlngreetl qtmvlgcqag hpyvcaglmh pydgkviprn tegclvtwnq htaknrevea
     1621 tlkvhrkvvl hlkglhhdrs qhgeirhsla ldlahsyqls fpqalsldgg iifrqspqgt
     1681 fnfgmdaraa vnhnvtsqas vqlngsdsdf afffqlrhph gptfppnfqv qaaagryrvr
     1741 slngslsvqm sgrelvllev dasqdtrrss rgwgvsvllh qavlsaprav rlqlsakitp
     1801 ariwlfskal ldqntaqlll kaseewrggr iltfqsqtrh tvagwaampr lltltgrlkq
     1861 ketlqegtls vtadsavlgf llrdqhekag ngtsvrsvtc vlaqnssqal pgelqlkgrl
     1921 qaqtrnlraq asirahaasl alggacswgp rhgqlaggpt hnistlsdag lpseagmlls
     1981 lthvasncsa rlalwnagaq ldgaigledv tpessglqlh aslrhthtmp slkhwglpfs
     2041 ldghghfqsv grslaagltv ildgeqlraa lerkaeggrq glvlglhhgl sglqgtlpsq
     2101 levncsgdas ptqllgwcrg diagqplevs vdihngssgf ehsgrilmgp tflnysvscy
     2161 yhdghlelsg rswhnseall wagfpgeacl saelqihetq tqarvalhgg dsgvsmdlaa
     2221 lvarprrgpl qlvasashtv palqrlglpf tnqlvfqglw eaeemssslq ltcdsqatlv
     2281 ldvrgqnqav skellfsgrh rlpfllglcp ssasasaklh yskgevqsmf algveerhfh
     2341 istrqvaaka glnnfikleq tflqlsalpr elflqtayer ahgtrvlrqv vlwdgqeval
     2401 tgslsgpfpk ptrnlslqve lthplplplp rhcslrlsse hlggshrdgl vvgwdgrdqv
     2461 lvssslwlgk selaarlala hpfnlpwrqa easglaesrg grqsrqvqlt wnrgqpatlq
     2521 ltwadgslah stawdgclaa spgqlqetwg lnslqacgaf tqtpavfveq lnvswgqhrm
     2581 rqnltyerhw psqpdkiime atlehvlgas ctrqsfwgev qtdyarwlrh slhlglcdlp
     2641 rallvvgeht lgqgglllrs rchlglapdp dhglhlsltl qnhsrprsad fsgalelrgs
     2701 kaqrvgllgr vststsqslv rlegsvdnre ekvrlsvfra psclqasvah eeggreesvv
     2761 lracahgrta eaevlfrdgr qpsqplgrlt lqaanqslll aargcqggll ghvesriaav
     2821 gsqvqarlee kvqglgasvr rfqqlvqpag tldgvaglll qlsqagream qasgwavatl
     2881 warsqaltqh lplylewlqv gleqlreele wplatlkday levtlrplee vwreraeeam
     2941 rrlqawvpgm pgkggprpir aalgamkgal elaaqqmlsw aeatfsralk rlckplldly
     3001 slsarnrsvv vmlpllpagd epldvarvts ylmeekllrp lrelsganvl aeyywlrrrl
     3061 lagpweyhal vagaqhvvtf dgrvwdlstq cgsillaqdf ahntfsltls rtgsgltalf
     3121 velnhktlil ypslqayrly nsslpgdscp dlklhpattr kdvsrielas edgvsvscdv
     3181 ptglcsltlg lwqhgisagl lgtndneagn elmlpdgsma rsleelslaw qvggdcrate
     3241 kpqqeqacpg qlpacwaffe gphsslrdcf rvvdptpfls lcvqvpcgtq elqpacnlaa
     3301 ayihlcargf vplapppqcg cpsnsvltpa twrqhqipcg essviqccv
//
LOCUS       XP_011522621             629 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 13B isoform X2 [Homo
            sapiens].
ACCESSION   XP_011522621
VERSION     XP_011522621.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011524319.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..629
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..629
                     /product="ankyrin repeat domain-containing protein 13B
                     isoform X2"
                     /calculated_mol_wt=70109
     Region          <31..93
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          39..70
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          155..493
                     /region_name="GPCR_chapero_1"
                     /note="GPCR-chaperone; pfam11904"
                     /db_xref="CDD:432178"
     CDS             1..629
                     /gene="ANKRD13B"
                     /coded_by="XM_011524319.4:310..2199"
                     /db_xref="GeneID:124930"
                     /db_xref="HGNC:HGNC:26363"
                     /db_xref="MIM:615124"
ORIGIN      
        1 mlqdvfwpcf rtkagtghrl pllplaprpq vdieqldprg rtplhlattl ghlecarvll
       61 ahgadvgren rsgwtvlqea vstrdlelvq lvlryrdyqr vvkrlagipv lleklrkaqd
      121 fyvemkweft swvplvskic psdtykvwks gqnlrvdttl lgfdhmtwqr gnrsfvfrgq
      181 dtsavvmeid hdrrvvytet lalagqdrel llaaaqptee qvlsrltapv vttqldtkni
      241 sfernktgil gwrsektemv ngyeakvyga snvelitrtr tehlseqhkg kvkgcktplq
      301 sflgiaeqhg gpqngtlitq tlsqanptai taeeyfnpnf elgnrdmgrp melttktqnv
      361 pyplgsgggr fkaklwlcee hplslceqva piidlmavsn alfaklrdfi tlrlppgfpv
      421 kieipifhil naritfgnln gcdepvpsvr gspssetpsp gsdsssvsss ssttscrgce
      481 ispalfeapr gysmmggqre aatrdddddl lqfaiqqsll eagseydqvt iwealtnskp
      541 gthpmsyegr rqdrsapptp qrqpappasv psprpssgpg sgghvfrsyd eqlrlamels
      601 aqeqeerrrr arqeeeeler ilrlslteq
//
LOCUS       XP_016880192             252 aa            linear   PRI 20-MAR-2023
DEFINITION  platelet-activating factor acetylhydrolase IB subunit beta isoform
            X4 [Homo sapiens].
ACCESSION   XP_016880192
VERSION     XP_016880192.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017024703.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..252
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..252
                     /product="platelet-activating factor acetylhydrolase IB
                     subunit beta isoform X4"
                     /calculated_mol_wt=26341
     CDS             1..252
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /coded_by="XM_017024703.1:81..839"
                     /db_xref="GeneID:5048"
                     /db_xref="HGNC:HGNC:8574"
                     /db_xref="MIM:601545"
ORIGIN      
        1 mqavggrplh qvvapgslcg ptphpplats aqrlgrvwgp wkqsqgpifl lgrssagrav
       61 apfiggggch ggqglllsca efplwgpqcw wlqrqshgea ghvedvaqap ghlglglegr
      121 pqlqprggqr vlprqqwqgl pfdpllpedl silstarqpp lreaadiihg pladvlkgwg
      181 llpihrespc gagpgsasag apdagraspl gqgqesvawd laqrfkavdq lfaalafntg
      241 vsrfevsrna sq
//
LOCUS       XP_016882129             496 aa            linear   PRI 20-MAR-2023
DEFINITION  MEF2-activating motif and SAP domain-containing transcriptional
            regulator isoform X2 [Homo sapiens].
ACCESSION   XP_016882129
VERSION     XP_016882129.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017026640.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..496
                     /product="MEF2-activating motif and SAP domain-containing
                     transcriptional regulator isoform X2"
                     /calculated_mol_wt=52667
     Region          253..282
                     /region_name="SAP"
                     /note="SAP domain; pfam02037"
                     /db_xref="CDD:426575"
     CDS             1..496
                     /gene="MAMSTR"
                     /gene_synonym="MASTR"
                     /coded_by="XM_017026640.2:641..2131"
                     /db_xref="GeneID:284358"
                     /db_xref="HGNC:HGNC:26689"
                     /db_xref="MIM:610349"
ORIGIN      
        1 mgplpcplsv qvpipalamt laassqrsqi irskfrsvlq lrihrrnqeq kcsnrspptp
       61 ppsdpvqapi sqqsslapwp alrhpgapls tqpcssrpgl lpaglsgsft vspvsdpdpw
      121 isasdpplap alpsgtapfl fspgvllpep eycppwrspk kespkisqrw reskprgnlt
      181 yhqymppepr qgsradpqae gsalgppgps lwegtdsqqp hprmkpsplt pcppgvpsps
      241 ppphklelqt lkleeltvse lrqqlrlrgl pvsgtksmll ermrggappr erpkprreds
      301 pagapwprlk pkalaaarrq gsvkpsaash rpplpraadt pgtapaptpt papaaapalt
      361 pssgpgsaal tleeelqeai rraqllpnrg iddiledqve pddplppipl dfpgsfdvls
      421 pspdseglss vfssslpspt nssspsprdp tdsldwleal sggpplgsgp pppsifsadl
      481 sdssssrlwd lledpw
//
LOCUS       XP_024307494             423 aa            linear   PRI 20-MAR-2023
DEFINITION  podocan-like protein 1 isoform X9 [Homo sapiens].
ACCESSION   XP_024307494
VERSION     XP_024307494.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024451726.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..423
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..423
                     /product="podocan-like protein 1 isoform X9"
                     /calculated_mol_wt=46705
     Region          <34..>197
                     /region_name="PRK15370"
                     /note="type III secretion system effector E3 ubiquitin
                     transferase SlrP"
                     /db_xref="CDD:185268"
     Region          57..75
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          77..99
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          100..125
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <121..>376
                     /region_name="PRK15370"
                     /note="type III secretion system effector E3 ubiquitin
                     transferase SlrP"
                     /db_xref="CDD:185268"
     Region          126..152
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          153..178
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          179..198
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          200..223
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          224..249
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          250..270
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          271..294
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          342..365
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          366..391
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..423
                     /gene="PODNL1"
                     /gene_synonym="SLRR5B"
                     /coded_by="XM_024451726.2:216..1487"
                     /db_xref="GeneID:79883"
                     /db_xref="HGNC:HGNC:26275"
ORIGIN      
        1 maesglamwp slllllllpg pppvagleda afphlgeslq plpracplrc scprvdtvdc
       61 dgldlrvfpd nitraaqhls lqnnqlqelp ynelsrlsgl rtlnlhnnli sseglpdeaf
      121 esltqlqhlc vahnknnlis kvprgalsrq tqlrelylqh nqltdsglda ttfsklhsle
      181 yldlshnqlt tvpaglprtl ailhlgrnri rqveaarlhg arglrylllq hnqlgssglp
      241 agalrplrgl htlhlygngl drvppalprr lralvlphnh vaalgardlv atpgltelnl
      301 aynrlasarv hhrafrrlra lrsldlagnq ltrlpmglpt glrtlqlqrn qlrmlepepl
      361 agldqlrels lahnrlrvgd igpgtwhelq alqvrhrlvs htvprappsp clpchvpnil
      421 vsw
//
LOCUS       XP_047300361             741 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-1,6-mannosylglycoprotein
            6-beta-N-acetylglucosaminyltransferase A isoform X1 [Homo sapiens].
ACCESSION   XP_047300361
VERSION     XP_047300361.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444405.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..741
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..741
                     /product="alpha-1,6-mannosylglycoprotein
                     6-beta-N-acetylglucosaminyltransferase A isoform X1"
                     /calculated_mol_wt=84412
     Region          7..138
                     /region_name="DUF4525"
                     /note="Domain of unknown function (DUF4525); pfam15027"
                     /db_xref="CDD:373487"
     Region          172..726
                     /region_name="Glyco_transf_18"
                     /note="Glycosyltransferase family 18; pfam15024"
                     /db_xref="CDD:434401"
     CDS             1..741
                     /gene="MGAT5"
                     /gene_synonym="glcNAc-T V; GNT-V; GNT-VA; MGAT5A"
                     /coded_by="XM_047444405.1:250..2475"
                     /db_xref="GeneID:4249"
                     /db_xref="HGNC:HGNC:7049"
                     /db_xref="MIM:601774"
ORIGIN      
        1 malftpwkls sqklgfflvt fgfiwgmmll hftiqqrtqp esssmlreqi ldlskryika
       61 laeenrnvvd gpyagvmtay dlkktlavll dnilqrigkl eskvdnlvvn gtgtnstnst
      121 tavpslvale kinvadiing aqekcvlppm dgyphcegki kwmkdmwrsd pcyadygvdg
      181 stcsffiyls evenwcphlp wraknpyeea dhnslaeirt dfnilysmmk kheefrwmrl
      241 rirrmadawi qaikslaekq nlekrkrkkv lvhlglltke sgfkiaetaf sggplgelvq
      301 wsdlitslyl lghdirisas laelkeimkk vvgnrsgcpt vgdriveliy idivglaqfk
      361 ktlgpswvhy qcmlrvldsf gtepefnhan yaqskghktp wgkwnlnpqq fytmfphtpd
      421 nsflgfvveq hlnssdihhi neikrqnqsl vygkvdsfwk nkkiyldiih tymevhatvy
      481 gsstknipsy vknhgilsgr dlqfllretk lfvglgfpye gpapleaian gcaflnpkfn
      541 ppksskntdf figkptlrel tsqhpyaevf igrphvwtvd lnnqeeveda vkailnqkie
      601 pympyeftce gmlqrinafi ekqdfchgqv mwpplsalqv klaepgqsck qvcqesqlic
      661 epsffqhlnk dkdmlkykvt cqsselakdi lvpsfdpknk hcvfqgdlll fscagahprh
      721 qrvcpcrdfi kgqvalckdc l
//
LOCUS       XP_047301505             782 aa            linear   PRI 20-MAR-2023
DEFINITION  ras-associated and pleckstrin homology domains-containing protein 1
            isoform X9 [Homo sapiens].
ACCESSION   XP_047301505
VERSION     XP_047301505.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445549.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..782
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..782
                     /product="ras-associated and pleckstrin homology
                     domains-containing protein 1 isoform X9"
                     /calculated_mol_wt=82113
     Region          <4..46
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     CDS             1..782
                     /gene="RAPH1"
                     /gene_synonym="ALS2CR18; ALS2CR9; LPD; PREL-2; PREL2;
                     RalGDS/AF-6; RMO1"
                     /coded_by="XM_047445549.1:233..2581"
                     /db_xref="GeneID:65059"
                     /db_xref="HGNC:HGNC:14436"
                     /db_xref="MIM:609035"
ORIGIN      
        1 mnehpqiqkk sqyikylccd dvrtlhqwvn giriakygkq lymnyqealk rtesaydwts
       61 lssssiksgs ssssipesqs nhsnqsdsgv sdtqpaghvr sqsivssvfs eawkrgtqle
      121 esskarmesm nrpytslvpp lspqpkivtp ytasqpsppl pppppppppp pppppppppp
      181 lpsqsapsag saapmfvkys titrlqnasq hsgalfkppt ppvmqsqsvk pqilvppngv
      241 vppppppppp ptpgsamaql kpapcapslp qfsapppplk ihqvqhitqv apptpppppp
      301 ipaplppqap pkplvtipap tstktvapvv tqaapptptp pvppakkqpa fpasyippsp
      361 ptppvpvppp tlpkqqsfca kpppsplspv psvvkqiasq fpppptppam esqplkpvpa
      421 nvapqsppav kakpkwqpss ipvpspdfpp pppesslvfp ppppspvpap pppppptasp
      481 tpdksgspgk ktsktsspgg kkppptpqrn ssiksssgae hpepkrpsvd slvskftppa
      541 esgspsketl pppaappkpg klnlsgvnlp gvlqqgcvsa kapvlsgrgk dsvvefpspp
      601 sdsdfppppp etelplppie ipavfsgnts pkvavvnpqp qqwskmsvkk appptrpkrn
      661 dstrltqaei seqptmatvv pqvptspkss lsvqpgflad lnrtlqrksi trhgslssrm
      721 sraeptatmd dmalpppppe llsdqqkagy ggshisgyat lrrgpppapp krdqntklsr
      781 dw
//
LOCUS       XP_024308906             564 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-galactosidase-1-like protein isoform X2 [Homo sapiens].
ACCESSION   XP_024308906
VERSION     XP_024308906.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453138.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..564
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..564
                     /product="beta-galactosidase-1-like protein isoform X2"
                     /calculated_mol_wt=63894
     Region          36..500
                     /region_name="GanA"
                     /note="Beta-galactosidase GanA [Carbohydrate transport and
                     metabolism]; COG1874"
                     /db_xref="CDD:224786"
     Region          38..263
                     /region_name="AmyAc_family"
                     /note="Alpha amylase catalytic domain family; cl38930"
                     /db_xref="CDD:453893"
     CDS             1..564
                     /gene="GLB1L"
                     /coded_by="XM_024453138.2:586..2280"
                     /db_xref="GeneID:79411"
                     /db_xref="HGNC:HGNC:28129"
ORIGIN      
        1 mapkklsclr slllplsltl llpqadtrsf vvdrghdrfl ldgapfryvs gslhyfrvpr
       61 vlwadrllkm rwsglnaiqf yvpwnyhepq pgvynfngsr dliaflneaa lanllvilrp
      121 gpyicaewem gglpswllrk peihlrtsdp adnmtkiftl lrkyephgpl vnseyytgwl
      181 dywgqnhstr svsavtkgle nmlklgasvn mymfhggtnf gywngadkkg rflpittsyd
      241 ydapiseagd ptpklfalrd viskfqevpl gplpppspkm mlgpvtlhlv ghllafldll
      301 cprgpihsil pmtfeavkqd hgfmlyrtym thtifeptpf wvpnngvhdr ayvmvdgvfq
      361 gvvernmrdk lfltgklgsk ldilvenmgr lsfgsnssdf kgllkppilg qtiltqwmmf
      421 plkidnlvkw wfplqlpkwp ypqapsgptf ysktfpilgs vgdtflylpg wtkgqvwing
      481 fnlgrywtkq gpqqtlyvpr fllfprgaln kitlleledv plqpqvqfld kpilnststl
      541 hrthinslsa dtlsasepme lsgh
//
LOCUS       XP_047301953             315 aa            linear   PRI 20-MAR-2023
DEFINITION  rhomboid-related protein 4 isoform X2 [Homo sapiens].
ACCESSION   XP_047301953
VERSION     XP_047301953.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445997.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..315
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..315
                     /product="rhomboid-related protein 4 isoform X2"
                     /calculated_mol_wt=35692
     Region          65..206
                     /region_name="Rhomboid"
                     /note="Rhomboid family; cl21536"
                     /db_xref="CDD:419717"
     CDS             1..315
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /coded_by="XM_047445997.1:344..1291"
                     /db_xref="GeneID:84236"
                     /db_xref="HGNC:HGNC:23081"
                     /db_xref="MIM:617515"
ORIGIN      
        1 mqrrsrgint glilllsqif hvginnippv tlatlalniw fflnpqkply ssclsvekcy
       61 qqkdwqrlll splhhaddwh lyfnmasmlw kginlerrlg srwfayvita fsvltgvvyl
      121 llqfavaefm depdfkrsca vgfsgvlfal kvlnnhycpg gfvnilgfpv pnrfacwvel
      181 vaihlfspgt sfaghlagil vglmytqgpl kkimeacagg fsssvgypgr qyyfnssgss
      241 gyqdyyphgr pdhyeeaprn ydtytaglse eeqleralqa slwdrgntrn spppygfhls
      301 peemrrqrlh rfdsq
//
LOCUS       XP_011510826             759 aa            linear   PRI 20-MAR-2023
DEFINITION  cilium assembly protein DZIP1L isoform X4 [Homo sapiens].
ACCESSION   XP_011510826
VERSION     XP_011510826.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011512524.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..759
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..759
                     /product="cilium assembly protein DZIP1L isoform X4"
                     /calculated_mol_wt=85255
     Region          52..172
                     /region_name="Dzip-like_N"
                     /note="Iguana/Dzip1-like DAZ-interacting protein
                     N-terminal; pfam13815"
                     /db_xref="CDD:433498"
     Region          233..>506
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..759
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /coded_by="XM_011512524.3:58..2337"
                     /db_xref="GeneID:199221"
                     /db_xref="HGNC:HGNC:26551"
                     /db_xref="MIM:617570"
ORIGIN      
        1 mafsqllgll pwpwcppplv vssglplpmq spaataegls gplfgaytfp tfkfqprhds
       61 mdwrristld vdrvareldv atlqeniagi tfcnldrevc srcgqpvdpa llkvlrlaql
      121 iieyllhcqd clsasvaqle arlqtslgqq qrgqqelgrq adelkgvree srrrrkmist
      181 lqqllmqtgt hsyhtchlcd ktfmnatflr ghiqrrhagv aeggkqkkqe qpveevleel
      241 raklkwtqge leaqreaerq rqlqeaelih qreieakkef dkwkeqewtk lygeidklkk
      301 lfwdefknva kqnstleekl ralqshsvme sklgslrdee seewlrqare lqalrektei
      361 qktewkrkvk elheehmaek keiqslslrk vegihkvpka vdteedspee emedsqdeqh
      421 kvlaalrrnp tllkhfrpil edtleekles mgirkdakgi siqtlrhles llrvqreqka
      481 rkfseflslr gklvkevtsr akerqengav vsqpdgqpsv ksqqstlvtr eaqpktrtlq
      541 valpstpaep ppptrqshgs hgssltqvsa paprpglhgp sstppssgpg mstppfssee
      601 dsegdrvqrv slqppkvpsr mvprpkddwd wsdtetseen aqppgqgsgt lvqsmvknle
      661 kqleapakkp aggvslffmp nagpqraatp grkpqvgcrm lrvysgilyr tssefggpgv
      721 kvgegpasvi lcpsgtlwvt slcpcahgem asleylyps
//
LOCUS       XP_011531878             229 aa            linear   PRI 20-MAR-2023
DEFINITION  charged multivesicular body protein 2b isoform X1 [Homo sapiens].
ACCESSION   XP_011531878
VERSION     XP_011531878.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011533576.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..229
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..229
                     /product="charged multivesicular body protein 2b isoform
                     X1"
                     /calculated_mol_wt=25509
     Region          32..201
                     /region_name="Snf7"
                     /note="pfam03357"
                     /db_xref="CDD:397437"
     CDS             1..229
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
                     /coded_by="XM_011533576.3:49..738"
                     /db_xref="GeneID:25978"
                     /db_xref="HGNC:HGNC:24537"
                     /db_xref="MIM:609512"
ORIGIN      
        1 misaqrnhhl pdssdsstsa yrvaritdvi keqnrelrgt qraiirdraa lekqekqlel
       61 eikkmakign keackvlakq lvhlrkqktr tfavsskvts mstqtkvmns qmkmagamst
      121 taktmqavnk kmdpqktlqt mqnfqkenmk memteemind tlddifdgsd deeesqdivn
      181 qvldeigiei sgkmakapsa arslpsasts katisdeeie rqlkalgvd
//
LOCUS       XP_047305977            1193 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-G-associated kinase isoform X31 [Homo sapiens].
ACCESSION   XP_047305977
VERSION     XP_047305977.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047450021.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1193
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1193
                     /product="cyclin-G-associated kinase isoform X31"
                     /calculated_mol_wt=130435
     Region          <46..241
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          321..483
                     /region_name="PTP_GAK"
                     /note="protein tyrosine phosphatase-like domain of
                     cyclin-G-associated kinase; cd14564"
                     /db_xref="CDD:350412"
     Region          491..629
                     /region_name="PTEN_C2"
                     /note="C2 domain of PTEN tumor-suppressor protein;
                     pfam10409"
                     /db_xref="CDD:431265"
     Region          <630..884
                     /region_name="PHA03321"
                     /note="tegument protein VP11/12; Provisional"
                     /db_xref="CDD:223041"
     Region          <764..1010
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <1142..1186
                     /region_name="DnaJ"
                     /note="DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock
                     protein 40) proteins are highly conserved and play crucial
                     roles in protein translation, folding, unfolding,
                     translocation, and degradation. They act primarily by
                     stimulating the ATPase activity of Hsp70s; cd06257"
                     /db_xref="CDD:99751"
     Site            order(1157..1159,1171,1174..1175,1178..1179)
                     /site_type="other"
                     /note="HSP70 interaction site [polypeptide binding]"
                     /db_xref="CDD:99751"
     CDS             1..1193
                     /gene="GAK"
                     /gene_synonym="DNAJ26; DNAJC26"
                     /coded_by="XM_047450021.1:130..3711"
                     /db_xref="GeneID:2580"
                     /db_xref="HGNC:HGNC:4113"
                     /db_xref="MIM:602052"
ORIGIN      
        1 msllqsaldf lagpgslgga sgrdqsdfvg qtvelgelrl rvrrvlaegq lveflkkmes
       61 rgplscdtvl kifyqtcrav qhmhrqkppi ihrdlkvenl llsnqgtikl cdfgsattis
      121 hypdyswsaq rralveeeit rnttpmyrtp eiidlysnfp igekqdiwal gcilyllcfr
      181 qhpfedgakl rivngkysip phdtqytvfh sliramlqvn peerlsiaev vhqlqeiaaa
      241 rnvnpkspit elleqnggyg satlsrgppp pvgpagsgys gglalaeydq pyggfldilr
      301 ggterlftnl kdtsskviqs vanyakgdld isyitsriav msfpaegves alknniedvr
      361 lfldskhpgh yavynlsprt yrpsrfhnrv secgwaarra phlhtlynic rnmhawlrqd
      421 hknvcvvhcm dgraasavav csflcfcrlf staeaavymf smkrcppgiw pshkryieym
      481 cdmvaeepit phskpilvra vvmtpvplfs kqrsgcrpfc evyvgderva stsqeydkmr
      541 dfkiedgkav iplgvtvqgd vliviyhars tlggrlqakm asmkmfqiqf htgfvprnat
      601 tvkfakydld acdiqekypd lfqvnlevev eprdrpsrea ppwenssmrg lnpkilfssr
      661 eeqqdilskf gkpelprqpg staqydagag speaeptdsd sppsssadas rflhtldwqe
      721 ekeaetgaen asskesesal medrdesevs deggspisse gqepradpep pglaaglvqq
      781 dlvfevetpa vlpepvpqed gvdllglhse vgagpavppq ackapssntd llscllgppe
      841 aasqgppedl lsedplllas papplsvqst prggppaaad pfgpllpssg nnsqpcsnpd
      901 lfgeflnsds vtvppsfpsa hsapppscsa dflhlgdlpg epskmtasss npdllggwaa
      961 wtetaasava ptpategspa gfppggfipk tattpkgsss wqtsrppaqg aswppqakpp
     1021 pkactqprpn yasnfsviga reergvraps faqkpkvsen dfedllsnqg fssrsdkkgp
     1081 ktiaemrkqd lakdtdplkl klldwiegke rnirallstl htvlwdgesr wtpvgmadlv
     1141 apeqvkkhyr ravlavhpdk aagqpyeqha kmifmelnda wsefenqgsr plf
//
LOCUS       XP_005248434            1818 aa            linear   PRI 20-MAR-2023
DEFINITION  sperm flagellar protein 2 isoform X10 [Homo sapiens].
ACCESSION   XP_005248434
VERSION     XP_005248434.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005248377.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1818
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..1818
                     /product="sperm flagellar protein 2 isoform X10"
                     /calculated_mol_wt=209184
     Region          5..97
                     /region_name="CH_2"
                     /note="CH-like domain in sperm protein; pfam06294"
                     /db_xref="CDD:428873"
     Region          146..>445
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          <681..863
                     /region_name="NK"
                     /note="Nucleoside/nucleotide kinase (NK) is a protein
                     superfamily consisting of multiple families of enzymes
                     that share structural similarity and are functionally
                     related to the catalysis of the reversible phosphate group
                     transfer from nucleoside triphosphates...; cl17190"
                     /db_xref="CDD:450170"
     CDS             1..1818
                     /gene="SPEF2"
                     /gene_synonym="CT122; KPL2; SPGF43"
                     /coded_by="XM_005248377.5:136..5592"
                     /db_xref="GeneID:79925"
                     /db_xref="HGNC:HGNC:26293"
                     /db_xref="MIM:610172"
ORIGIN      
        1 mseilcqwln kelkvsrtvs pksfakafss gyllgevlhk felqddfsef ldsrvssakl
       61 nnfsrleptl nllgvqfdqn vahgiitekp gvatkllyql yialqkkkks gltgvemqtm
      121 qrltnlrlqn mksdtfqerl rhmiprqtdf nlmrityrfq ekykhvkedl ahlhfekler
      181 fqklkeeqrc fdiekqylnr rrqneimaki qaaiiqipkp asnrtlkale aqkmmkkkke
      241 aedvadeikk fealikkdlq akesasktsl dtagqtttdl lntysddeyi kkiqkrleed
      301 afareqrekr rrkllmdqli aheaqeeayr eeqlinrlmr qsqqerriav qlmhvrheke
      361 vlwqnrifre kqheerrlkd fqdaldreaa lakqakidfe eqflkekrfh dqiaveraqa
      421 ryekhysvca eildqivdls tkvadyrmlt nnlipyklmh dwkelffnak piyeqasvkt
      481 lpanpsreql telekrdlld tndyeeyknm vgewalpeem vdnlppsnnc ilghilhrla
      541 ekslppraes ttpelpsfav kgcllgktls gkttilrslq kdfpiqilsi dtlvqeaiqa
      601 fhdnekvsev lpiqkndeed alpvlqeeik esqdpqhvfs agpvsdevlp eteganadkt
      661 pkaeevkssd sflklttraq lgakseqllk kgksipdvll vdiivnaine ipvnqdcild
      721 gfpmtlnqaq lleealtgcn rnlteverkk aqkstlaidp atskeiplps pafdfvilld
      781 vsdtssmsrm ndiiaeelsy ktahedisqr vaaenqdkdg dqnlrdqiqh riigfldnwp
      841 lleqwfsepe nilikinaei dkeslcekvk eiltteiakk knkvekklee keaekkaaas
      901 laelplptpp papppepeke keihqshvas ktptakgkpq seaphgkqes lqegkgkkge
      961 talkrkgspk gkssggkvpv kkspadstdt spvaivpqpp kpgseewvyv nepvpeempl
     1021 flvpywelie nsyintiktv lrhlredqht vlaylyeirt sfqeflkrpd hkqdfvaqwq
     1081 adfnslpddl wddeetkael hqrvndlrdr lwdicdarke eaeqerldii neswlqdtlg
     1141 mtmnhffslm qaelnrfqdt krllqdyywg meskipvedn krftriplvq ldskdnsesq
     1201 lriplvpris isletvtpkp ktksvlkgkm dnslenvesn feadeklvmd twqqaslavs
     1261 hmvaaeihqr lmeeekenqp adpkekspqm gankkvkkep pkkkqedkkp kgksppmaea
     1321 tpvivtteei aeikrknelr vkikeehlaa lqfeeiatqf rleliktkal alledlvtkv
     1381 vdvyklmekw lgerylnema stekltdvar yhietstkiq nelylsqedf fingnikvfp
     1441 dpppsirppp vekeedgtlt ieqldslrdq fldmapkgii gnkaftdili dlvtlnlgtn
     1501 nfpsnwmhlt qpelqeltsl ltvnsefvdw rkfllvtsmp wpipleeell etlqkfkavd
     1561 keqlgtitfe qymqaglwft gdedikipen pleplpfnrq ehliefffrl fadyekdppq
     1621 ldytqmllyf achpdtvegv yralsvavgt hvfqqvkasi psaektsstd agpaeefpep
     1681 eenaareerk lkddtekreq kdeeipenan nekmsmetll kvfkggseaq dsnrfashlk
     1741 ieniyaegfi ktfqdlgakn lepievavll khpfiqdlis nysdykfpvh iiyvvemivc
     1801 akgwaplpsg kqcarwrn
//
LOCUS       XP_006714997             557 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-1(XXIII) chain isoform X3 [Homo sapiens].
ACCESSION   XP_006714997
VERSION     XP_006714997.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006714934.4
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 6% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..557
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..557
                     /product="collagen alpha-1(XXIII) chain isoform X3"
                     /calculated_mol_wt=53532
     Region          <134..>375
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <256..>509
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     CDS             1..557
                     /gene="COL23A1"
                     /coded_by="XM_006714934.4:197..1870"
                     /db_xref="GeneID:91522"
                     /db_xref="HGNC:HGNC:22990"
                     /db_xref="MIM:610043"
ORIGIN      
        1 mgpgeraggg gdagkgnaag gggggrsatt agsravsalc lllsvgsaaa clllgvqaaa
       61 lqgrvaalee erellrragp pgaldawaep hlerllrekl dglakirtar eapsecvcpp
      121 gppgrrgkpg rrgdpgppgq sgrdgypgpl gldgkpglpg pkgekgdqgq dgaagppgpp
      181 gppgargppg dtgkdgprga qgpagpkgep gqdgemgpkg ppgpkgepgv pgkkgddgtp
      241 sqpgppgpkg epgsmgprge ngvdgapgpk gepghrgtdg aagprgapgl kgeqgdtvvi
      301 dydgrildal kgppgpqgpp gppgipgakg elglpgapgi dgekgpkgqk gdpgepgpag
      361 lkgeagemgl sglpgadglk gekgesasds lqeslaqliv epgppgppgp pgpmglqgiq
      421 gpkgldgakg ekgasgergp sglpgpvgpp gliglpgtkg ekgrpgepgl dgfpgprgek
      481 gdrsergekg ergvpgrkgv kgqkgepgpp gldqpcpven ptcggrrgap gwrgpargng
      541 pcpagpdglp vpgcwhk
//
LOCUS       XP_005248772            1154 aa            linear   PRI 20-MAR-2023
DEFINITION  filamin-A-interacting protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_005248772
VERSION     XP_005248772.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005248715.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1154
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1154
                     /product="filamin-A-interacting protein 1 isoform X2"
                     /calculated_mol_wt=132139
     Region          74..255
                     /region_name="CortBP2"
                     /note="Cortactin-binding protein-2; pfam09727"
                     /db_xref="CDD:430779"
     Region          <205..738
                     /region_name="PRK03918"
                     /note="DNA double-strand break repair ATPase Rad50"
                     /db_xref="CDD:235175"
     Region          <799..1154
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     CDS             1..1154
                     /gene="FILIP1"
                     /gene_synonym="FILIP"
                     /coded_by="XM_005248715.6:394..3858"
                     /db_xref="GeneID:27145"
                     /db_xref="HGNC:HGNC:21015"
                     /db_xref="MIM:607307"
ORIGIN      
        1 mrsrnqgges asdghiscpk psiignagek slsedakkkk ksnrkeddvm asgtvkrhlk
       61 tsgecerktk kslelskedl iqllsimege lqaredvihm lktektkpev leahygsaep
      121 ekvlrvlhrd ailaqeksig edvyekpise ldrleekqke tyrrmleqll laekchrrtv
      181 yelenekhkh tdymnksddf tnlleqerer lkklleqeka yqarkekena krlnklrdel
      241 vklksfalml vderqmhieq lglqsqkvqd ltqklreeee klkaitsksk edrqkllkle
      301 vdfehkasrf sqeheemnak lanqeshnrq lrlklvgltq rieeleetnk nlqkaeeelq
      361 elrdkiakge cgnsslmaev enlrkrvlem egkdeeitkt esqcrelrkk lqeeehhske
      421 lrleveklqk rmseleklee afsksksect qlhlnlekek nltkdllnel evvksrvkel
      481 ecsesrleka elslkddltk lksftvmlvd erknmmekik qeerkvdgln knfkveqgkv
      541 mdvtekliee skkllklkse meekvynltr erdeligklk seeekssels csvdllkkrl
      601 dgieeverei trgrsrkgse ltcpednkik eltleierlk krlqqlevve gdlmktedey
      661 dqleqkfrte qdkanflsqq leeikhqiak nkaiekgevv sqeaelrhrf rleeaksrdl
      721 kaevqalkek ihelmnkedq lsqlqvdysv lqqrfmeeen knknmgqevl nltkelelsk
      781 rysralrpsv ngrrmvdvpv tstgvqtdav sgeaaeeetp avfirksfqe enhimsnlrq
      841 vglkkpvers svldryppaa neltmrkswi pwmrkrengp sitqekgprt nsspghpgev
      901 vlspkqgqpl hirvtpdhen statleitsp tseeffsstt viptlgnqkp ritiipspnv
      961 mpqkqksgdt tlgperamsp vtittfsrek tpesgrgafa drptspiqim tvstsaapae
     1021 iavspesqem pmgrtilkvt pekqtvptpv rkynsnanii ttednkihih lgsqfkrspg
     1081 tsgegvspvi tvrpvnvtae kevstgtvlr sprnhlssrp gaskvtstit itpvttssar
     1141 gtqsvkassf tsye
//
LOCUS       XP_047276924            1030 aa            linear   PRI 20-MAR-2023
DEFINITION  protein KRBA1 isoform X5 [Homo sapiens].
ACCESSION   XP_047276924
VERSION     XP_047276924.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420968.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1030
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1030
                     /product="protein KRBA1 isoform X5"
                     /calculated_mol_wt=107367
     Region          195..237
                     /region_name="KRBA1"
                     /note="KRBA1 family repeat; pfam15287"
                     /db_xref="CDD:434598"
     Region          371..415
                     /region_name="KRBA1"
                     /note="KRBA1 family repeat; pfam15287"
                     /db_xref="CDD:434598"
     Region          492..523
                     /region_name="KRBA1"
                     /note="KRBA1 family repeat; pfam15287"
                     /db_xref="CDD:434598"
     CDS             1..1030
                     /gene="KRBA1"
                     /coded_by="XM_047420968.1:223..3315"
                     /db_xref="GeneID:84626"
                     /db_xref="HGNC:HGNC:22228"
ORIGIN      
        1 mrenyetlvs vgtaellpls aflspsepgr avgggshade gqepagcgdp qggqprhslh
       61 ltalvqlvke ipeflfgevk gamdspeses rgasldgera speaaaarep cplrgllscl
      121 pdgptsqphl attptdsscs sgptgdgvqg splpiktadk pwptrkegpg alggepsppt
      181 hspsrrkshr gqergtseag ispgnsplqg linclkeilv pgprhpetsp sflpplpslg
      241 tsrltradlg pgsppwavkt eavsgdcplq gllhclkelp eaqdrhpsps gvgnrrlqen
      301 pgawkrgsgg pgylltppph pdlgagglls vkmenswvqs ppgpascqpg rqplspsatg
      361 dtrgvpqpsw gpeaqaasas ssplealeac lkgippngss psqlpptscs qnpqpgdsrs
      421 qkpelqphrs hseeatrepv lplglqscvr dgpsrplapr gtptsfssss stdwdldfgs
      481 pvgnqgqhpg kgsppgsspl qglenclkei pvpvlrpawp cssaadrgpr raeprnwtad
      541 keglraeace sarlgqgrge aptrslhlvs pqvftsscvp achqrgfkdp gatrpgvwrw
      601 lpegsapkps plhclesalr gilpvrplrf acvggpspsp spgssssfsg segedprpep
      661 dlwkplpqer drlpsckppv plspcpggtp agssggspge dprrtepryc sglgagtaqd
      721 pcpvsqlekr prvseasrgl elghgrprva aktherllpq gppelpsesp ppelpppeaa
      781 ppvlpasslq ppchcgkplq qelhslgaal aekldrlata laglaqevat mrtqvnrlgr
      841 rpqgpgpmgq aswmwtlprg prwahgpghr hlpywrqkgp trpkpkilrg qgescragdl
      901 qglsrgtarr arplppdapp aeppglhcss sqqllsstps chaappahpl lahtgghqsp
      961 lpplvpaalp lqgasppaas adadvptsgv apdgiperpk epssllggvq ralqeelwgg
     1021 ehrdprwgah
//
LOCUS       XP_024302785             760 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-D-binding Myb-like transcription factor 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_024302785
VERSION     XP_024302785.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024447017.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..760
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..760
                     /product="cyclin-D-binding Myb-like transcription factor 1
                     isoform X1"
                     /calculated_mol_wt=84340
     Region          <89..438
                     /region_name="REB1"
                     /note="Myb superfamily proteins, including transcription
                     factors and mRNA splicing factors [Transcription / RNA
                     processing and modification / Cell division and chromosome
                     partitioning]; COG5147"
                     /db_xref="CDD:227476"
     Site            order(227,255..256,258..259,261..263,265..267)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238096"
     Region          228..284
                     /region_name="Myb_DNA-bind_6"
                     /note="Myb-like DNA-binding domain; pfam13921"
                     /db_xref="CDD:372817"
     Region          274..329
                     /region_name="Myb_DNA-binding"
                     /note="Myb-like DNA-binding domain; pfam00249"
                     /db_xref="CDD:425555"
     Site            order(276,316..317,319..320,322..324,326..328)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238096"
     CDS             1..760
                     /gene="DMTF1"
                     /gene_synonym="DMP1; DMTF; hDMP1; MRUL"
                     /coded_by="XM_024447017.2:857..3139"
                     /db_xref="GeneID:9988"
                     /db_xref="HGNC:HGNC:14603"
                     /db_xref="MIM:608491"
ORIGIN      
        1 mstveedsdt vtvetvnsvt ltqdtegnli lhcpqneade idsedsiepp hkrlclssed
       61 dqsiddstpc isvvalplse ndqsfevtmt attevaddev tegtvtqiqi lqneqldeis
      121 plgneevsav sqawfttked kdsltnkghk wkqgmwskee idilmnnier ylkargikda
      181 teiifemskd erkdfyrtia wglnrplfav yrrvlrmydd rnhvgkytpe eieklkelri
      241 khgndwatig aalgrsassv kdrcrlmkdt cntgkwteee ekrlaevvhe ltstepgdiv
      301 tqgvswaava ervgtrsekq crskwlnyln wkqsggtewt kedeinlilr iaeldvaden
      361 dinwdllaeg wssvrspqwl rskwwtikrq ianhkdvsfp vlikglkqlh enqknnptll
      421 enksgsgvpn sntnssvqhv qirvarledn taissspmaa lqipvqithv ssadspatvd
      481 setitlnsgt lqtfeilpsf hlqptgtpgt yllqtsssqg lpltltaspt vtltaaapas
      541 peqiivhals pehllntsdn vtvqchtprv iiqtvatedi tssisqaelt vdsdiqssdf
      601 peppdalead tfpdeihhpk mtvepsfnda hvskfsdqns telmnsvmvr teeeisdtdl
      661 kqeespsdla sayvtegles ptieeqvdqt iddetilivp sphgfiqasd vidtesvlpl
      721 ttltdpilqh hqeesniigs slgspvseds kdvedlvnch
//
LOCUS       XP_047278150            1318 aa            linear   PRI 20-MAR-2023
DEFINITION  maestro heat-like repeat-containing protein family member 1 isoform
            X12 [Homo sapiens].
ACCESSION   XP_047278150
VERSION     XP_047278150.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422194.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1318
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1318
                     /product="maestro heat-like repeat-containing protein
                     family member 1 isoform X12"
                     /calculated_mol_wt=145420
     CDS             1..1318
                     /gene="MROH1"
                     /gene_synonym="HEATR7A"
                     /coded_by="XM_047422194.1:210..4166"
                     /db_xref="GeneID:727957"
                     /db_xref="HGNC:HGNC:26958"
ORIGIN      
        1 mtessmkkla stlldaitdk dplvqeqvcs alcslgearp vetlraceey lrqhdklahp
       61 yraavlrame rvlssrasel dkdtastiil lassemtktk dlvwdwqqaa sgvlvavgrq
      121 fiskvmeell rrlhpgtlph cavlhtlasl svanafgvvp flpsvlssll pvlgvakqdt
      181 vrvafcsalq rfsegaleyl anldrapdpt vrkdafatdi fsaydvlfhq wlqsreaklr
      241 lavvealgpm shllpserle eqlpkllpgi lalykkhaet fylskslgqi leaavsvgsr
      301 tletqldall aalhsqicvp vesssplvms nqkevlrcft vlacsspdrl lafllprldt
      361 snertrvgtl qvvrhvinsa aaqmedkkpf ilssmrlpll dtnskvkrav vqvisamahh
      421 gyleqpggea mieyivqqca lppeqepekp gpgskdpkad svraisvrtl ylvsttvdrm
      481 shvlwpyllq fltpvrftga ltplcrslvh laqkrqeaga dafliqydah aslpspyavt
      541 grllvvsssp ylgdgrgaaa lrllsvlhpn ihpllgqhwe ttvplllgyl dehteetlpq
      601 eeweekllmf lrdtlaiisd nawicqlsle lcrqlpcyde apqeknflyk cigttlgaas
      661 skevvrkhlq elletaryqe eaereglacc fgicaishle dtlaqledfv rsevfrksig
      721 ilnifkdrse nevekvksal ilcyghvaar aprelvlakv esdilrnicq hfstkvlgik
      781 vetkdpalkl clvqsvcmvs raicsstqag sfhftrkael vaqmmefira eppdslrtpi
      841 rkkamltcty lvsvepalde qaradvihgc lhsimallpe pkeedggcqk slyletlhal
      901 edlltsllqr nmtpqglqim iehlspwiks prgheraral glsalllryf lehlrvsalv
      961 pfhnlgllig lfsprcadlw patrqeavdc vysllylqlg yegfsrdyrd dvaerllslk
     1021 dglvhpdpai lfhtchsvgq iiakrlppdq lisllltmfe algdpekncs raatvmincl
     1081 lqerggvlqe kvpeivsvlr sklqeaqgeh vlpaaqhsvy llatqhcaav vssllgsplp
     1141 ldshtcmlwr alaveprlaa qvlglllekm srdvpfkesr afllgrtpdr vatllplsat
     1201 calfevmstp aagpavlely pqlfvvlllr vsctvgvqlp rnlqaqerrg aspalatrnl
     1261 epcssavdtl rsmllrsgse dvvqrmdleg gwellrtsag heegatrlas gplsqghg
//
LOCUS       XP_011542977             130 aa            linear   PRI 20-MAR-2023
DEFINITION  phospholipid phosphatase 5 isoform X4 [Homo sapiens].
ACCESSION   XP_011542977
VERSION     XP_011542977.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544675.4
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_011542977.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..130
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..130
                     /product="phospholipid phosphatase 5 isoform X4"
                     /calculated_mol_wt=14130
     Region          43..>112
                     /region_name="PAP2_like"
                     /note="PAP2_like proteins, a super-family of histidine
                     phosphatases and vanadium haloperoxidases, includes type 2
                     phosphatidic acid phosphatase or lipid phosphate
                     phosphatase (LPP), Glucose-6-phosphatase,
                     Phosphatidylglycerophosphatase B and bacterial acid...;
                     cl00474"
                     /db_xref="CDD:444927"
     CDS             1..130
                     /gene="PLPP5"
                     /gene_synonym="DPPL1; HTPAP; PPAPDC1B"
                     /coded_by="XM_011544675.4:26..418"
                     /db_xref="GeneID:84513"
                     /db_xref="HGNC:HGNC:25026"
                     /db_xref="MIM:610626"
ORIGIN      
        1 mgkaaaavaf gaevgvrlal faaflvtell ppfqrliqpe emwlyrnpyv eaeyfptkpm
       61 fviaflspls liflakflkk adtrdsrqac laaslalaln gvftntikli vgsishqrpq
      121 qsvsvllsts
//
LOCUS       XP_006717116             217 aa            linear   PRI 20-MAR-2023
DEFINITION  osteoclast-stimulating factor 1 isoform X1 [Homo sapiens].
ACCESSION   XP_006717116
VERSION     XP_006717116.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006717053.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..217
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..217
                     /product="osteoclast-stimulating factor 1 isoform X1"
                     /calculated_mol_wt=23899
     Region          19..71
                     /region_name="SH3_OSTF1"
                     /note="Src Homology 3 domain of metazoan osteoclast
                     stimulating factor 1; cd11772"
                     /db_xref="CDD:212706"
     Site            order(24,26,29,33,51..52,65,67..68)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212706"
     Region          79..106
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          80..173
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Site            order(81..82,85..87,89..90,94,97,106,108,110,114..115,
                     118..120,122..123,127,130,140,142,144,148..149,152..154,
                     156..157,161,164,173)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          108..140
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          142..173
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          147..>201
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     CDS             1..217
                     /gene="OSTF1"
                     /gene_synonym="bA235O14.1; OSF; SH3P2"
                     /coded_by="XM_006717053.4:180..833"
                     /db_xref="GeneID:26578"
                     /db_xref="HGNC:HGNC:8510"
                     /db_xref="MIM:610180"
ORIGIN      
        1 mskpppkpvk pgeggqvkvf ralytfeprt pdelyfeegd iiyitdmsdt nwwkgtskgr
       61 tglipsnyva eqaesidnpl heaakrgnls wlrecldnrv gvngldkags talywachgg
      121 hkdivemlft qpnielnqqn klgdtalhaa awkgyadivq lllakgartd lrniekklaf
      181 dmatnaacas llkkkqgtda vrtlsnaedy lddedsd
//
LOCUS       XP_006717305            1469 aa            linear   PRI 20-MAR-2023
DEFINITION  snRNA-activating protein complex subunit 4 isoform X1 [Homo
            sapiens].
ACCESSION   XP_006717305
VERSION     XP_006717305.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006717242.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1469
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1469
                     /product="snRNA-activating protein complex subunit 4
                     isoform X1"
                     /calculated_mol_wt=159302
     Region          <262..305
                     /region_name="SANT"
                     /note="'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains.
                     Tandem copies of the domain bind telomeric DNA tandem
                     repeatsas part of the capping complex. Binding is sequence
                     dependent for repeats which contain the G/C rich motif
                     [C2-3 A (CA)1-6]. The domain is...; cl21498"
                     /db_xref="CDD:451276"
     Site            order(293..294,317..318,330..331,334,338)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:212557"
     Region          297..357
                     /region_name="Myb_DNA-bind_6"
                     /note="Myb-like DNA-binding domain; pfam13921"
                     /db_xref="CDD:372817"
     Site            order(321,324,328)
                     /site_type="other"
                     /note="putative Na binding site [ion binding]"
                     /db_xref="CDD:212557"
     Region          346..397
                     /region_name="SANT"
                     /note="SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding
                     domains; smart00717"
                     /db_xref="CDD:197842"
     Region          399..>502
                     /region_name="PLN03091"
                     /note="hypothetical protein; Provisional"
                     /db_xref="CDD:215570"
     Region          401..448
                     /region_name="SANT"
                     /note="SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding
                     domains; smart00717"
                     /db_xref="CDD:197842"
     Site            order(404,434..435,437..438,440..442,444..446)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238096"
     Region          <817..1215
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..1469
                     /gene="SNAPC4"
                     /gene_synonym="PTFalpha; SNAP190"
                     /coded_by="XM_006717242.5:1228..5637"
                     /db_xref="GeneID:6621"
                     /db_xref="HGNC:HGNC:11137"
                     /db_xref="MIM:602777"
ORIGIN      
        1 mdvdaereki tqeikeleri ldpgssgshv eisesslesd seadslpsed ldpadppise
       61 eerwgeasnd eddpkdktlp edpetclqln mvyqeviqek laeanlllaq nreqqeelmr
      121 dlagskgtkv kdgkslppst ymghfmkpyf kdkvtgvgpp anedtrekaa qgikafeell
      181 vtkwknweka llrksvvsdr lqrllqpkll kleylhqkqs kvsselerqa lekqgreaek
      241 eiqdinqlpe eallgnrlds hdwekisnin fegsrsaeei rkfwqnsehp sinkqewsre
      301 eeerlqaiaa ahghlewqki aeelgtsrsa fqclqkfqqh nkalkrkewt eeedrmltql
      361 vqemrvgshi pyrrivyyme grdsmqliyr wtksldpglk kgywapeeda kllqavakyg
      421 eqdwfkiree vpgrsdaqcr drylrrlhfs lkkgrwnlke eeqlieliek ygvghwakia
      481 selphrsgsq clskwkimmg kkqglrrrrr rarhsvrwss tsssgsssgs sggsssssss
      541 sseedepeqa qagegdrall spqymvpdmd lwvparqsts qpwrggagaw lggpaaslsp
      601 pkgssasqgg skeasttaaa pgeetspvqv parahgpvpr saqashsadt rpagaekqal
      661 eggrrlltvp vetvlrvlra ntaarsctqk eqlrqpplpt sspgvssgds varshvqwlr
      721 hratqsgqrr wrhalhrrll nrrlllavtp wvgdvvvpct qasqrpavvq tqadglreql
      781 qqarlastpv ftlftqlfhi dtagclevvr erkalpprlp qagardppvh llqasssaqs
      841 tpghlfpnvp aqeasksash kgsrrlassr vertlpqasl lastgprpkp ktvsellqek
      901 rlqeararea trgpvvlpsq llvsssvilq pplphtphgr papgptvlnv plsgpgapaa
      961 akpgtsgswq eagtsakdkr lstmqalpla pvfseaegta paasqapalg pgqisvscpe
     1021 sglgqsqapa asrkqglpea ppflpaapsp tplpvqplsl thiggphvat svplpvtwvl
     1081 taqgllpvpv pavvslprpa gtpgpaglla tllppltetr aaqgprapal ssswqppanm
     1141 nrepepscrt dtpappthal sqspaeadgs vafvpgeaqv areipeprts shadppeaep
     1201 pwsgrlpafg gvipateprg tpgspsgtqe prgplglekl plrqpgpekg aldlekpplp
     1261 qpgpekgald lgllsqegea atqqwlggqr gvrvpllgsr lpyqppalcs lralsglllh
     1321 kkalehkats lvvggeaerp agalqaslgl vrgqlqdnpa ylllrarfla aftlpallat
     1381 lapqgvrttl svpsrvgses ededllsele ladrdgqpgc ttatcpiqga pdsgkcsass
     1441 cldtsndpdd ldvlrtrhar htrkrrrlv
//
LOCUS       XP_006724537            3593 aa            linear   PRI 20-MAR-2023
DEFINITION  dystrophin isoform X7 [Homo sapiens].
ACCESSION   XP_006724537
VERSION     XP_006724537.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006724474.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3593
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..3593
                     /product="dystrophin isoform X7"
                     /calculated_mol_wt=416043
     Region          11..121
                     /region_name="CH_DMD_rpt1"
                     /note="first calponin homology (CH) domain found in
                     dystrophin and similar proteins; cd21231"
                     /db_xref="CDD:409080"
     Site            order(11..13,16..17,19..21,23..24,27,112,115,119..121)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:409080"
     Site            order(17,21,72,74..75,78..79,81,90..98,103,105..106,
                     108..109,112..113,116)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409080"
     Region          136..246
                     /region_name="CH_DMD_rpt2"
                     /note="second calponin homology (CH) domain found in
                     dystrophin and similar proteins; cd21233"
                     /db_xref="CDD:409082"
     Site            order(136,140,191,193..194,197..198,200,209..217,224,
                     226..227,229..230,233..234,237)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409082"
     Site            order(139..140,210..214,217,220,222..227,230,233..234,
                     236..237,241..246)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:409082"
     Region          341..558
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            448..453
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          560..827
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Site            668..673
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          <763..>1938
                     /region_name="235kDa-fam"
                     /note="reticulocyte binding/rhoptry protein; TIGR01612"
                     /db_xref="CDD:130673"
     Region          1049..1263
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1155..1160
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1878..2102
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Site            1994..1999
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          2105..2320
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            order(2209..2211,2213..2215)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          2472..2688
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            2578..2583
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          2690..2933
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            2803..2808
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          2934..3040
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Site            3041..3045
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          3059..3088
                     /region_name="WW"
                     /note="Two conserved tryptophans domain; also known as the
                     WWP or rsp5 domain; around 40 amino acids; functions as an
                     interaction module in a diverse set of signalling
                     proteins; binds specific proline-rich sequences but at low
                     affinities compared to other...; cd00201"
                     /db_xref="CDD:238122"
     Site            order(3072,3083)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          3125..3286
                     /region_name="EFh_DMD"
                     /note="EF-hand-like motif found in dystrophin; cd16246"
                     /db_xref="CDD:320004"
     Site            order(3125..3126,3128..3129,3147,3151,3155,3157..3158,
                     3161,3172..3178,3180..3181,3184,3190,3203,3244..3245,3247)
                     /site_type="other"
                     /note="Domain interface"
                     /db_xref="CDD:320004"
     Region          3125..3164
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320004"
     Region          3171..3205
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320004"
     Site            3188..3190
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:320004"
     Region          3211..3247
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320004"
     Region          3260..3286
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320004"
     Region          3311..3359
                     /region_name="ZZ_dystrophin"
                     /note="Zinc finger, ZZ type. Zinc finger present in
                     dystrophin and dystrobrevin. The ZZ motif coordinates two
                     zinc ions and most likely participates in ligand binding
                     or molecular scaffolding. Dystrophin attaches actin
                     filaments to an integral membrane...; cd02334"
                     /db_xref="CDD:239074"
     Site            order(3313,3316,3328,3331,3337,3340,3350,3354)
                     /site_type="other"
                     /note="Zinc-binding sites [ion binding]"
                     /db_xref="CDD:239074"
     Site            order(3313,3316,3337,3340)
                     /site_type="other"
                     /note="zinc cluster 1 [ion binding]"
                     /db_xref="CDD:239074"
     Site            order(3314,3325,3327,3333,3335)
                     /site_type="active"
                     /note="putative charged binding surface [active]"
                     /db_xref="CDD:239074"
     Site            order(3326,3341,3356,3359)
                     /site_type="active"
                     /note="putative hydrophobic binding surface [active]"
                     /db_xref="CDD:239074"
     Site            order(3328,3331,3350,3354)
                     /site_type="other"
                     /note="zinc cluster 2 [ion binding]"
                     /db_xref="CDD:239074"
     CDS             1..3593
                     /gene="DMD"
                     /gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
                     DXS239; DXS268; DXS269; DXS270; DXS272; MRX85"
                     /coded_by="XM_006724474.4:238..11019"
                     /db_xref="GeneID:1756"
                     /db_xref="HGNC:HGNC:2928"
                     /db_xref="MIM:300377"
ORIGIN      
        1 mlwweevedc yeredvqkkt ftkwvnaqfs kfgkqhienl fsdlqdgrrl ldllegltgq
       61 klpkekgstr vhalnnvnka lrvlqnnnvd lvnigstdiv dgnhkltlgl iwniilhwqv
      121 knvmknimag lqqtnsekil lswvrqstrn ypqvnvinft tswsdglaln alihshrpdl
      181 fdwnsvvcqq satqrlehaf niaryqlgie klldpedvdt typdkksilm yitslfqvlp
      241 qqvsieaiqe vemlprppkv tkeehfqlhh qmhysqqitv slaqgyerts spkprfksya
      301 ytqaayvtts dptrspfpsq hleapedksf gsslmesevn ldryqtalee vlswllsaed
      361 tlqaqgeisn dvevvkdqfh thegymmdlt ahqgrvgnil qlgskligtg klsedeetev
      421 qeqmnllnsr weclrvasme kqsnlhrvlm dlqnqklkel ndwltkteer trkmeeeplg
      481 pdledlkrqv qqhkvlqedl eqeqvrvnsl thmvvvvdes sgdhataale eqlkvlgdrw
      541 anicrwtedr wvllqdillk wqrlteeqcl fsawlseked avnkihttgf kdqnemlssl
      601 qklavlkadl ekkkqsmgkl yslkqdllst lknksvtqkt eawldnfarc wdnlvqklek
      661 staqisqavt ttqpsltqtt vmetvttvtt reqilvkhaq eelpppppqk krqitvdsei
      721 rkrldvdite lhswitrsea vlqspefaif rkegnfsdlk ekvnaierek aekfrklqda
      781 srsaqalveq mvnegvnads ikqaseqlns rwiefcqlls erlnwleyqn niiafynqlq
      841 qleqmtttae nwlkiqpttp septaiksql kickdevnrl sdlqpqierl kiqsialkek
      901 gqgpmfldad fvaftnhfkq vfsdvqarek elqtifdtlp pmryqetmsa irtwvqqset
      961 klsipqlsvt dyeimeqrlg elqalqsslq eqqsglyyls ttvkemskka pseisrkyqs
     1021 efeeiegrwk klssqlvehc qkleeqmnkl rkiqnhiqtl kkwmaevdvf lkeewpalgd
     1081 seilkkqlkq crllvsdiqt iqpslnsvne ggqkikneae pefasrlete lkelntqwdh
     1141 mcqqvyarke alkgglektv slqkdlsemh ewmtqaeeey lerdfeyktp delqkaveem
     1201 krakeeaqqk eakvklltes vnsviaqapp vaqealkkel etlttnyqwl ctrlngkckt
     1261 leevwacwhe llsylekank wlnevefklk ttenipggae eisevldsle nlmrhsednp
     1321 nqirilaqtl tdggvmdeli neeletfnsr wrelheeavr rqklleqsiq saqetekslh
     1381 liqesltfid kqlaayiadk vdaaqmpqea qkiqsdltsh eisleemkkh nqgkeaaqrv
     1441 lsqidvaqkk lqdvsmkfrl fqkpanfeqr lqeskmilde vkmhlpalet ksveqevvqs
     1501 qlnhcvnlyk slsevkseve mviktgrqiv qkkqtenpke ldervtalkl hynelgakvt
     1561 erkqqlekcl klsrkmrkem nvltewlaat dmeltkrsav egmpsnldse vawgkatqke
     1621 iekqkvhlks itevgealkt vlgkketlve dklsllnsnw iavtsraeew lnllleyqkh
     1681 metfdqnvdh itkwiiqadt lldesekkkp qqkedvlkrl kaelndirpk vdstrdqaan
     1741 lmanrgdhcr klvepqisel nhrfaaishr iktgkasipl keleqfnsdi qkllepleae
     1801 iqqgvnlkee dfnkdmnedn egtvkellqr gdnlqqritd erkreeikik qqllqtkhna
     1861 lkdlrsqrrk kaleishqwy qykrqaddll kclddiekkl aslpeprder kikeidrelq
     1921 kkkeelnavr rqaeglsedg aamaveptqi qlskrwreie skfaqfrrln faqihtvree
     1981 tmmvmtedmp leisyvpsty lteithvsqa lleveqllna pdlcakdfed lfkqeeslkn
     2041 ikdslqqssg ridiihskkt aalqsatpve rvklqealsq ldfqwekvnk mykdrqgrfd
     2101 rsvekwrrfh ydikifnqwl teaeqflrkt qipenwehak ykwylkelqd gigqrqtvvr
     2161 tlnatgeeii qqssktdasi lqeklgslnl rwqevckqls drkkrleeqk nilsefqrdl
     2221 nefvlwleea dniasiplep gkeqqlkekl eqvkllveel plrqgilkql netggpvlvs
     2281 apispeeqdk lenklkqtnl qwikvsralp ekqgeieaqi kdlgqlekkl edleeqlnhl
     2341 llwlspirnq leiynqpnqe gpfdvketei avqakqpdve eilskgqhly kekpatqpvk
     2401 rkledlssew kavnrllqel rakqpdlapg lttigasptq tvtlvtqpvv tketaiskle
     2461 mpsslmlevp aladfnrawt eltdwlslld qviksqrvmv gdledinemi ikqkatmqdl
     2521 eqrrpqleel itaaqnlknk tsnqeartii tdrieriqnq wdevqehlqn rrqqlnemlk
     2581 dstqwleake eaeqvlgqar akleswkegp ytvdaiqkki tetkqlakdl rqwqtnvdva
     2641 ndlalkllrd ysaddtrkvh miteninasw rsihkrvser eaaleethrl lqqfpldlek
     2701 flawlteaet tanvlqdatr kerlledskg vkelmkqwqd lqgeieahtd vyhnldensq
     2761 kilrslegsd davllqrrld nmnfkwselr kkslnirshl eassdqwkrl hlslqellvw
     2821 lqlkddelsr qapiggdfpa vqkqndvhra fkrelktkep vimstletvr iflteqpleg
     2881 leklyqepre lppeeraqnv trllrkqaee vnteweklnl hsadwqrkid etlerlrelq
     2941 eatdeldlkl rqaevikgsw qpvgdllids lqdhlekvka lrgeiaplke nvshvndlar
     3001 qlttlgiqls pynlstledl ntrwkllqva vedrvrqlhe ahrdfgpasq hflstsvqgp
     3061 weraispnkv pyyinhetqt tcwdhpkmte lyqsladlnn vrfsayrtam klrrlqkalc
     3121 ldllslsaac daldqhnlkq ndqpmdilqi inclttiydr leqehnnlvn vplcvdmcln
     3181 wllnvydtgr tgrirvlsfk tgiislckah ledkyrylfk qvasstgfcd qrrlglllhd
     3241 siqiprqlge vasfggsnie psvrscfqfa nnkpeieaal fldwmrlepq smvwlpvlhr
     3301 vaaaetakhq akcnickecp iigfryrslk hfnydicqsc ffsgrvakgh kmhypmveyc
     3361 tpttsgedvr dfakvlknkf rtkryfakhp rmgylpvqtv legdnmetnl qaeydrlkqq
     3421 hehkglsplp sppemmptsp qsprdaelia eakllrqhkg rlearmqile dhnkqlesql
     3481 hrlrqlleqp qaeakvngtt vsspstslqr sdssqpmllr vvgsqtsdsm geedllsppq
     3541 dtstgleevm eqlnnsfpss rghnvgslfh maddlgrame slvsvmtdee gae
//
LOCUS       XP_054186118             552 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane channel-like protein 4 isoform X1 [Homo sapiens].
ACCESSION   XP_054186118
VERSION     XP_054186118.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330143.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571055.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..552
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..552
                     /product="transmembrane channel-like protein 4 isoform X1"
                     /calculated_mol_wt=61055
     CDS             1..552
                     /gene="TMC4"
                     /coded_by="XM_054330143.1:43..1701"
                     /db_xref="GeneID:147798"
                     /db_xref="HGNC:HGNC:22998"
                     /db_xref="MIM:617181"
ORIGIN      
        1 meenptlese awgssrgwla preargapcs spgpslssvl nelpsaatlr yrdpgvlpwg
       61 aleeeeedgg rsrkaftevt qtelqdphps relpwpmqar rahrqrnasr dqvvygsgtk
      121 tdrwarllrr skektkeglr slqpwawtlk riggqfgagt esyfsllrfl lllnvlasvl
      181 macmtllptw lggappgppg pdisspcgsy nphsqglvtf atqlfnllsg egylewsplf
      241 ygfypprprl avtylcwafa vgliclllil hrtvflrlas lvvllfslwn qitcggdsea
      301 edcktcgyny kqlpcwetvl gqemyklllf dlltvlaval liqfprkllc glcpgalgrl
      361 agtqefqvpd evlgliyaqt vvwvgsffcp llpllntvkf lllfylkklt lfstcspaar
      421 tfrasaanff fplvlllgla issvpllysi flippsklcg pfrgqssiwa qipesisslp
      481 ettqnflffl gtqafavpll lissilmayt valansygrl iselkrqrqt eaqnkvflar
      541 ravaltstkp al
//
LOCUS       XP_054188054            1896 aa            linear   PRI 20-MAR-2023
DEFINITION  CASP8-associated protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054188054
VERSION     XP_054188054.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332079.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_017363815.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1896
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q15"
     Protein         1..1896
                     /product="CASP8-associated protein 2 isoform X2"
                     /calculated_mol_wt=213325
     CDS             1..1896
                     /gene="CASP8AP2"
                     /gene_synonym="CED-4; FLASH; RIP25"
                     /coded_by="XM_054332079.1:259..5949"
                     /db_xref="GeneID:9994"
                     /db_xref="HGNC:HGNC:1510"
                     /db_xref="MIM:606880"
ORIGIN      
        1 mkelmkkfke iqtqnfslin enqslkknis aliktarvei nrkdeeisnl hqrlsefphf
       61 rnnhktartf dtvktkdlks rsphlddcsk tdhraksdvs kdvhhstslp nlekegkphs
      121 dkrstshlpt svekhctngv wsrshyqvge gssnedsrrg rkdirhsqfn rgtervrkdl
      181 stgcgdgepr ileasqrlqg hpekygkgep ktesksskfk snsdsdykge rinssweket
      241 pgershsrvd sqsdkklerq sersqninrk evksqdkeer kvdqkpksvv kdqdhwrrse
      301 raslphskne itfshnssky hleerrgwed ckrdksvnsh sfqdgrcpss lsnsrthkni
      361 dskevdamhq wentplkaer hrtedkrkre qeskeenrhi rnekrvpteh lqktnketkk
      421 tttdlkkqne pktdkgevld ngvsegadnk elamkaesgp netknkdlkl sfmkklnltl
      481 spakkqpvsq dnqhkitdip kssgvcdses smqvktvayv psisehilge aavsehtmge
      541 tkstllepkv allavtepri gisetnkede nsllvrsvdn tmhceepicg tetsfpspme
      601 iqqteslfps tgmkqtinng raaapvvmdv lqtdvsqnfg leldtkrndn sdycgisegm
      661 emkvalsttv settesilqp sieeadilpi mlsednnpkf epsvivtplv eskschlepc
      721 lpketldssl qqtelmdhrm atgetnsvyh dddnsvlsid lnhlrpipea isplnspvrp
      781 vakvlrnesp pqvpvynnsh kdvflpnsah stsksqsdln kenqkpiyks dkcteadtck
      841 nspldeleeg eirsdsetsk pqesfeknsk rrvsadvrks ktiprrgkst vcldkdsrkt
      901 hvrihqtnnk wnkrpdkssr ssktekkdkv mstsslekiv piiavpsseq eimhmlrmir
      961 khvrknymkf kakfsliqfh riiesailsf tslikhlnlh kisksvttlq knlcdiiesk
     1021 lkqvkkngiv drlfeqqlpd mkkklwkfvd dqldylfakl kkilvcdsks fgrdsdegkl
     1081 ektskqnaqy snsqkrsvdn snrellkekl sksedpvhyk slvgckksee nyqdqnnssi
     1141 ntvkhdikkn fnicfdnikn sqseerslev hcpstpksek negssiedaq tsqhatlkpe
     1201 rsfeilteqq assltfnlvs daqmgeifks llqgsdllds svncteksew elktpekqll
     1261 etlkcesipa ctteelvsgv aspcpkmisd dnwsllssek gpslssglsl pvhpdvldes
     1321 cmfevstnlp lskdnvcsve kskpcvssil ledlavsltv psplksdghl sflkpdmsss
     1381 stpeevisah fsedalleee daseqdihla lesdnsssks scssswtsrs vapgfqyhpn
     1441 lpmhavimek sndhfivkir ratpstssgl kqsmmpdell tslprhgkea degpekeyis
     1501 cqntvfksve elensnknvd gskstheeqs smiqtqvpdi yeflkdasdk mghsdevade
     1561 cfklhqvwet kvpesieelp smeeishsvg ehlpntyvdl tkdpvtetkn lgefievtvl
     1621 hidqlgcsgg nlnqsaqild nslqadtvga fidltqdass eaksegnhpa lavedlgcgv
     1681 iqvdedncke ekaqvanrpl kciveetyid lttespssce vkkdelksep gsncdnselp
     1741 gtlhnshkkr rnisdlnhph kkqrketdlt nkektkkptq dscenteahq kkaskkkapp
     1801 vtkdpsslka tpgikdssaa latstslsak nvikkkgeii ilwtrnddre illecqkrgp
     1861 sfktfaylaa kldknpnqvs erfqqlmklf ekskcr
//
LOCUS       XP_054188545             651 aa            linear   PRI 20-MAR-2023
DEFINITION  golgin subfamily A member 6-like protein 26 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054188545
VERSION     XP_054188545.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332570.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_021160017.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..651
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.1-11.2"
     Protein         1..651
                     /product="golgin subfamily A member 6-like protein 26
                     isoform X3"
                     /calculated_mol_wt=80821
     CDS             1..651
                     /gene="GOLGA6L26"
                     /coded_by="XM_054332570.1:113..2068"
                     /db_xref="GeneID:102723623"
                     /db_xref="HGNC:HGNC:56306"
ORIGIN      
        1 mlmwpqphlp thphlpthph lpthphlpth phlpthpmms ketrqsklae akeqltdhhp
       61 qtnpsvgtaa sdtkkkkinn gtnpetttsg gchspedeqk ashqhqealr releaqvhti
      121 riltcqktel qmalyysqha vkqlegeard lisrlhdswk fageleqals avatqkkkad
      181 ryieeltker dalslelyrn titdeelkek naklqeklql vesekseiql nvkelkrkle
      241 raklllpqqq lqaeadhlgk elqsvsaklq aqveenelwn rlnqqqeekm wrqeekiqew
      301 eekiqeqeek ireqeekire qeekmrrqee mmwekeekmr rqeemmweke ekmrrqeemm
      361 wekeekirel eekmheqeki reqeekrqee ekireqekrq eqeakmwrqe ekireqeeki
      421 reqeekmwrq eekiheqeki reeekrqeqe emwrqeekir eqeeiwrqke kiheqeekir
      481 kqeekmwrqe ekmhdqeeki reqeekvwrq eekireqeek ireqeekire qeemtqeqee
      541 kmgeqeekmc eqeekmqeqe ekmrrqeeki reqekkireq eekireqeem mqeqeekmwe
      601 qeekmceqee kmqeqeekmr rqeekmweqe vrlrqqeekm qehqehleaa i
//
LOCUS       XP_054189134            1709 aa            linear   PRI 20-MAR-2023
DEFINITION  ADAMTS-like protein 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054189134
VERSION     XP_054189134.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333159.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791797) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1709
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.2"
     Protein         1..1709
                     /product="ADAMTS-like protein 3 isoform X2"
                     /calculated_mol_wt=189746
     CDS             1..1709
                     /gene="ADAMTSL3"
                     /gene_synonym="ADAMTSL-3"
                     /coded_by="XM_054333159.1:188..5317"
                     /db_xref="GeneID:57188"
                     /db_xref="HGNC:HGNC:14633"
                     /db_xref="MIM:609199"
ORIGIN      
        1 maswtspwwv ligmvfmhsp lpqttaeksp gayflpefal spqgsfledt tgeqfltyry
       61 ddqtsrntrs dedkdgnwda wgdwsdcsrt cgggasyslr rcltgrnceg qniryktcsn
      121 hdcppdaedf raqqcsaynd vqyqghyyew lpryndpaap calkchaqgq nlvvelapkv
      181 ldgtrcntds ldmcisgicq avgcdrqlgs nakedncgvc agdgstcrlv rgqskshvsp
      241 ektpglppgq ggplpgghls aiyewpilkg eenviavplg srsvritvkg pahlfieskt
      301 lqgskgehsf nspgvflven ttvefqrgse rqtfkipgpl madfifktry taakdsvvqf
      361 ffyqpishqw rqtdffpctv tcgggyqlns aecvdirlkr vvpdhychyy penvkpkpkl
      421 kecsmdpcps sdgfkeimpy dhfqplprwe hnpwtacsvs cgggiqrrsf vcveesmhge
      481 ilqveewkcm yapkpkvmqt cnlfdcpkwi amewsqctvt cgrglryrvv lcinhrgehv
      541 ggcnpqlklh ikeecvipip cykpkekspv eaklpwlkqa qeleetriat eeptfipepw
      601 sacsttcgpg vqvrevkcrv lltftqtete lpeeecegpk lpterpclle acdespasre
      661 ldiplpedse ttydweyagf tpctatcvgg hqeaiavclh iqtqqtvnds lcdmvhrppa
      721 msqacntepc pprwhvgswg pcsatcgvgi qtrdvyclhp getpappeec rdekphalqa
      781 cnqfdcppgw hieewqqcsr tcgggtqnrr vtcrqlltdg sflnlsdelc qgpkasshks
      841 cartdcpphl avgdwskcsv scgvgiqrrk qvcqrlaakg rriplsemmc rdlpglplvr
      901 scqmpecski ksemktklge qgpqilsvqr vyiqtreekr inltigsray llpntsviik
      961 cpvrrfqksl iqwekdgrcl qnskrlgitk sgslkihgla apdigvyrci agsaqetvvl
     1021 kligtdnrli arpalrepmr eypgmdhsea nslgvtwhkm rqmwnnkndl yldddhisnq
     1081 pflrallghc snsagstnsw elknkqfeaa vkqgaysmdt aqfdelirnm sqlmetgevs
     1141 ddlasqliyq lvaelakaqp thmqwrgiqe etppaaqlrg etgsvsqssh aknsgkltfk
     1201 pkgpvlmrqs qppsisfnkt insrigntvy itkrtevini lcdlitpsea tytwtkdgtl
     1261 lqpsvkiild gtgkiqiqnp trkeqgiyec svanhlgsdv esssvlyaea pvilsverni
     1321 tkpehnhlsv vvggiveaal ganvtircpv kgvpqpnitw lkrggslsgn vsllfngsll
     1381 lqnvsleneg tyvciatnal gkavatsvlh llerrwpesr ivflqghkky ilqatntrtn
     1441 sndptgeppp qepfwepgnw shcsatcghl gariqrpqcv mangqevsea lcdhlqkpla
     1501 gfepcnirdc parwftsvws qcsvscgegy hsrqvtckrt kangtvqvvs pracapkdrp
     1561 lgrkpcfghp cvqwepgnrc pgrcmgravr mqqrhtacqh nssdsncddr krptlrrnct
     1621 sgacdvcwht gpwkpctaac grgfqsrkvd cihtrsckpv akrhcvqkkk piswrhclgp
     1681 scdstytsqt atnkgaashv krdkplegs
//
LOCUS       XP_054189256             542 aa            linear   PRI 20-MAR-2023
DEFINITION  proto-oncogene tyrosine-protein kinase Src isoform X1 [Homo
            sapiens].
ACCESSION   XP_054189256
VERSION     XP_054189256.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333281.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791812) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..542
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     Protein         1..542
                     /product="proto-oncogene tyrosine-protein kinase Src
                     isoform X1"
                     /calculated_mol_wt=60458
     CDS             1..542
                     /gene="SRC"
                     /gene_synonym="ASV; c-SRC; p60-Src; SRC1; THC6"
                     /coded_by="XM_054333281.1:1762..3390"
                     /db_xref="GeneID:6714"
                     /db_xref="HGNC:HGNC:11283"
                     /db_xref="MIM:190090"
ORIGIN      
        1 mgsnkskpkd asqrrrslep aenvhgaggg afpasqtpsk pasadghrgp saafapaaae
       61 pklfggfnss dtvtspqrag plaggvttfv alydyesrte tdlsfkkger lqivnntrkv
      121 dvregdwwla hslstgqtgy ipsnyvapsd siqaeewyfg kitrreserl llnaenprgt
      181 flvresettk gayclsvsdf dnakglnvkh ykirkldsgg fyitsrtqfn slqqlvayys
      241 khadglchrl ttvcptskpq tqglakdawe ipreslrlev klgqgcfgev wmgtwngttr
      301 vaiktlkpgt mspeaflqea qvmkklrhek lvqlyavvse epiyivteym skgslldflk
      361 getgkylrlp qlvdmaaqia sgmayvermn yvhrdlraan ilvgenlvck vadfglarli
      421 edneytarqg akfpikwtap eaalygrfti ksdvwsfgil ltelttkgrv pypgmvnrev
      481 ldqvergyrm pcppecpesl hdlmcqcwrk epeerptfey lqafledyft stepqyqpge
      541 nl
//
LOCUS       XP_054190620             191 aa            linear   PRI 20-MAR-2023
DEFINITION  bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein
            isoform X2 [Homo sapiens].
ACCESSION   XP_054190620
VERSION     XP_054190620.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334645.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 21% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..191
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..191
                     /product="bcl-2/adenovirus E1B 19 kDa-interacting protein
                     2-like protein isoform X2"
                     /calculated_mol_wt=21875
     CDS             1..191
                     /gene="BNIPL"
                     /gene_synonym="BNIP-S; BNIP-Salpha; BNIP-Sbeta; BNIPL-1;
                     BNIPL-2; BNIPL1; BNIPL2; BNIPS; PP753"
                     /coded_by="XM_054334645.1:964..1539"
                     /db_xref="GeneID:149428"
                     /db_xref="HGNC:HGNC:16976"
                     /db_xref="MIM:611275"
ORIGIN      
        1 mwdvtgedgh hwrvfrmgpr eqrvdmtvie pykkvlshgg yhgdglnavi lfascylprs
       61 sipnytyvme hlfrymvgtl ellvaenyll vhlsggtsra qvpplswirq cyrtldrrlr
      121 knlralvvvh atwyvkafla llrpfisskf trkirfldsl gelaqlisld qvhipeavrq
      181 ldrdlhgsgg t
//
LOCUS       XP_054194790             853 aa            linear   PRI 20-MAR-2023
DEFINITION  dyslexia-associated protein KIAA0319-like protein isoform X7 [Homo
            sapiens].
ACCESSION   XP_054194790
VERSION     XP_054194790.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338815.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..853
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..853
                     /product="dyslexia-associated protein KIAA0319-like
                     protein isoform X7"
                     /calculated_mol_wt=93425
     CDS             1..853
                     /gene="KIAA0319L"
                     /gene_synonym="AAVR; AAVRL"
                     /coded_by="XM_054338815.1:137..2698"
                     /db_xref="GeneID:79932"
                     /db_xref="HGNC:HGNC:30071"
                     /db_xref="MIM:613535"
ORIGIN      
        1 mekrlgvkpn paswilsgyy wqtsakwlrs lylfytcfcf svlwlstdas esrcqqgktq
       61 fgvglrsgge nhlwllegtp slqscwaacc qdsachvfww legmciqadc srpqscrafr
      121 thssnsmlvf lkkfqtaddl gflpeddvph llglgwnwas wrqsppraal rpavsssdqq
      181 slirklqkrg spsdvvtpiv tqhskvndsn elgglttsgs aevhkaitis splttdltae
      241 lsggpknvsv qpeiseglat tpstqqvkss ektqiavpqp vapsysyatp tpqasfqsts
      301 apypvikelv vsagesvqit lpknevqlna yvlqeppkge tytydwqlit hprdysgeme
      361 gkhsqilkls kltpglyefk vivegqnahg egyvnvtvkp eprknrppia ivspqfqeis
      421 lpttstvidg sqstdddkiv qyhweelkgp lreekisedt ailklsklvp gnytfsltvv
      481 dsdgatnstt anltvnkavd yppvanagpn qvitlpqnsi tlfgnqstdd hgitsyewsl
      541 spsskgkvve mqgvrtptlq lsamqegdyt yqltvtdtig qqataqvtvi vqpennkppq
      601 adagpdkelt lpvdsttldg skssddqkii sylwekthff fcrgpdgvql enanssvatv
      661 tglqvgtyvf tltvkdernl qsqssvnviv keeinkppia kitgnvvitl ptstaeldgs
      721 kssddkgivs ylwtrdegsp aagevlnhsd hhpilflsnl vegtytfhlk vtdakgesdt
      781 drttvevkpd prknnlveii ldinvsqlte rlkgmfirqi gvllgvldsd iivqkiqpyt
      841 eqrkissvea slk
//
LOCUS       XP_054195377             310 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-1,4-galactosyltransferase 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054195377
VERSION     XP_054195377.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339402.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..310
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..310
                     /product="beta-1,4-galactosyltransferase 3 isoform X2"
                     /calculated_mol_wt=34627
     CDS             1..310
                     /gene="B4GALT3"
                     /gene_synonym="beta4Gal-T3"
                     /coded_by="XM_054339402.1:272..1204"
                     /db_xref="GeneID:8703"
                     /db_xref="HGNC:HGNC:926"
                     /db_xref="MIM:604014"
ORIGIN      
        1 mlrrllerpc tlallvgsql avmmylslgg frslsalfgr dqgptfdysh prdvysnlsh
       61 lpgapggppa pqglpycper spllvgpvsv sfspvpslae ivernprvep ggryrpagce
      121 prsrtaiivp hrarehhlrl llyhlhpflq rqqlaygiyv ihqagngtfn rakllnvgvr
      181 ealrdeewdc lflhdvdllp endhnlyvcd prgprhvava mnkfgyslpy pqyfggvsal
      241 tpdqylkmng fpneywgwgg edddiatrvr lagmkisrpp tsvghykmvk hrgdkgneen
      301 phripgrkmg
//
LOCUS       XP_047299568             395 aa            linear   PRI 20-MAR-2023
DEFINITION  pancreatic alpha-amylase-like [Homo sapiens].
ACCESSION   XP_047299568
VERSION     XP_047299568.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047443612.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..395
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..395
                     /product="pancreatic alpha-amylase-like"
                     /calculated_mol_wt=43788
     Region          <52..300
                     /region_name="AmyAc_bac_euk_AmyA"
                     /note="Alpha amylase catalytic domain found in bacterial
                     and eukaryotic Alpha amylases (also called
                     1,4-alpha-D-glucan-4-glucanohydrolase); cd11317"
                     /db_xref="CDD:200456"
     Site            order(96,132,199)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:200456"
     Region          306..394
                     /region_name="Aamy_C"
                     /note="Aamy_C domain; smart00632"
                     /db_xref="CDD:214749"
     CDS             1..395
                     /gene="LOC124905662"
                     /coded_by="XM_047443612.1:56..1243"
                     /db_xref="GeneID:124905662"
ORIGIN      
        1 mcgnavsagt sstcgsyfnp gsrdfpavpy sgwdfndgkc ktgsgdieny ndatqvrdcr
       61 ltglldlale kdyvrskiae ymnhlidigv agfrldaskl mwpgdikail dklhnlnsnw
      121 fpagskpfiy qevidlggep ikssdyfgng rvtefkygak lgtvirkwng ekmsylknwg
      181 egwgfvpsdr alvfvdnhdn qrghgaggas iltfwdarly kmavgfmlah pygftrvmss
      241 yrwprqfqng ndvndwvgpp nnngvikevt inpdttcgnd cvcehrwrqi rnmvifrnvv
      301 dgqpftnwyd ngsnqvafgr gnrgfivfnn ddwsfsltlq tglpagtycd visgdkingn
      361 ctgikiyvsd dgkahfsisn saedpfiaih aeskl
//
LOCUS       XP_054220679             507 aa            linear   PRI 20-MAR-2023
DEFINITION  BTB/POZ domain-containing protein 16 isoform X6 [Homo sapiens].
ACCESSION   XP_054220679
VERSION     XP_054220679.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364704.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..507
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..507
                     /product="BTB/POZ domain-containing protein 16 isoform X6"
                     /calculated_mol_wt=58410
     CDS             1..507
                     /gene="BTBD16"
                     /gene_synonym="C10orf87"
                     /coded_by="XM_054364704.1:1343..2866"
                     /db_xref="GeneID:118663"
                     /db_xref="HGNC:HGNC:26340"
ORIGIN      
        1 mimsntqhka rlerrvtgst nrwrlpkqpf sgdllslsqm ckalsidfee alrnpdrlci
       61 sqiqkfffen fknkdiqsge advileclgf kwelhqpqlf qsetlaklyl kalaqgtthp
      121 lreleellra qspkktkeks pakriiislk indplvtkva fatalknlym seveinledl
      181 lgvlasahil qfsglfqrcv dvmiarlkps tikkfyeagc kykeeqlttg cekwlemnlv
      241 plggtqihlh kipqdllhkv lksprlftfs efhllktmll wvflqlnyki qaiptyetvm
      301 tffksfpenc cfldrdigqs lrplflclrl hgitkgkdle vlrhlnffpe swldqvtvnh
      361 yhalenggdm vhlkdlntqa vrfgllfnqe nttysktial ygfffkikgl khdttsysfy
      421 mqrikhtdle spsavyehnp vslraarlvk yeiraealvd gkwqefrtnq ikqkfgltts
      481 sckshtlkiq tvgipiyvsf afifpas
//
LOCUS       XP_054221140             807 aa            linear   PRI 20-MAR-2023
DEFINITION  fibroblast growth factor receptor 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054221140
VERSION     XP_054221140.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365165.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..807
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..807
                     /product="fibroblast growth factor receptor 2 isoform X2"
                     /calculated_mol_wt=90336
     CDS             1..807
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /coded_by="XM_054365165.1:591..3014"
                     /db_xref="GeneID:2263"
                     /db_xref="HGNC:HGNC:3689"
                     /db_xref="MIM:176943"
ORIGIN      
        1 mgltstwryg rgpgigtvtm vswgrficlv vvtmatlsla rpsfslvedt tlepeepptk
       61 yqisqpevyv aapgeslevr cllkdaavis wtkdgvhlgp nnrtvligey lqikgatprd
      121 sglyactasr tvdsetwyfm vnvtdaissg ddeddtdgae dfvsensnnk rapywtntek
      181 mekrlhavpa antvkfrcpa ggnpmptmrw lkngkefkqe hriggykvrn qhwslimesv
      241 vpsdkgnytc vveneygsin htyhldvver sphrpilqag lpanastvvg gdvefvckvy
      301 sdaqphiqwi khvekngsky gpdglpylkv lkhsginssn aevlalfnvt eadageyick
      361 vsnyigqanq sawltvlpkq qapgrekeit aspdyleiai ycigvfliac mvvtvilcrm
      421 knttkkpdfs sqpavhkltk riplrrqvtv saessssmns ntplvrittr lsstadtpml
      481 agvseyelpe dpkwefprdk ltlgkplgeg cfgqvvmaea vgidkdkpke avtvavkmlk
      541 ddatekdlsd lvsememmkm igkhkniinl lgactqdgpl yviveyaskg nlreylrarr
      601 ppgmeysydi nrvpeeqmtf kdlvsctyql argmeylasq kcihrdlaar nvlvtennvm
      661 kiadfglard innidyykkt tngrlpvkwm apealfdrvy thqsdvwsfg vlmweiftlg
      721 gspypgipve elfkllkegh rmdkpanctn elymmmrdcw havpsqrptf kqlvedldri
      781 ltlttneeyl dlsqplepys pcypdpr
//
LOCUS       XP_054221493             834 aa            linear   PRI 20-MAR-2023
DEFINITION  erythroid differentiation-related factor 1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054221493
VERSION     XP_054221493.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365518.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..834
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..834
                     /product="erythroid differentiation-related factor 1
                     isoform X4"
                     /calculated_mol_wt=93209
     CDS             1..834
                     /gene="EDRF1"
                     /gene_synonym="C10orf137"
                     /coded_by="XM_054365518.1:100..2604"
                     /db_xref="GeneID:26098"
                     /db_xref="HGNC:HGNC:24640"
ORIGIN      
        1 mgdakeagae gppagaaarg glsllsqges eessaqgsal flggnevksr avvkyssapp
       61 rtafarleek tdlklppanw lresaklgpa gttilgnskk skpfssfgma ydfidsvgnd
      121 vdvvsdseni kkllkipysk shvsmavhri grtllldeld iqelfmrssq tgdwtwlkef
      181 yqrlidqkwq rkkkskehwy qkailskfly ysingdgaaq pvsstaeqqe ssssdqtnds
      241 egaswpapfe mpssvsedps assqglkndf vrnilwtfed ihmlvgsnmp ifgggrypav
      301 slrlrdnnkp invltgidyw ldnlicnvpe lvmcfhvngi vqkyemikte eipnlensnf
      361 stkvikdiaq nilsflksnc tkeghtywlf kasgsdivkl ydlttlceet edkyqnpftm
      421 pvaillykva cnmmmkknqn kkhygtirtl llnclklldk srhpqiiasa nymlselfql
      481 depkkeense splnensdes yseeeeempd sdengsysts sdpsddskav aiiksvgels
      541 vpekyksihq irpscafpvc hdteercrlv lsyvleglks vdssikkesd lpaadpstpi
      601 plkyedessr ggpeglekqm alfldkmgsl qkgnyssqsg mipgswqhkm klqlilkssk
      661 ayyvlsdaam slqkygralr yiklalqshd tycclctnml sevllflsqy ltlcgdiqlm
      721 laqnannraa hleefhyqtk edqeilhslh resscqgfaw atdlstdles qlsvsckcye
      781 aaneilqfsd lksqnpehyv qvlkrmgnir neigvfymnq aaalqserlg nsql
//
LOCUS       XP_054221673             451 aa            linear   PRI 20-MAR-2023
DEFINITION  primary cilium assembly protein FAM149B1 isoform X3 [Homo sapiens].
ACCESSION   XP_054221673
VERSION     XP_054221673.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365698.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..451
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..451
                     /product="primary cilium assembly protein FAM149B1 isoform
                     X3"
                     /calculated_mol_wt=50275
     CDS             1..451
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /coded_by="XM_054365698.1:222..1577"
                     /db_xref="GeneID:317662"
                     /db_xref="HGNC:HGNC:29162"
                     /db_xref="MIM:618413"
ORIGIN      
        1 misrytrkav pqslelkgit khalnhhppp ekleeispts dshekdtssq sksditress
       61 ftsadtgnsl safpsytgag istegssdfs wgygeldqna tekvqtmfta idellyeqkl
      121 svhtkslqee cqqwtasfph lrilgrqiit psegyrlypr spsavsasye ttlsqerdst
      181 ifgirgkklh fsssyahkas siaksssfcs merdeedsii vsegiieeyl afdhidieeg
      241 fhgkkseaat ekqklgyppi apfycmkedv layvfdsvwc kvvscmeqlt rshwegfasd
      301 desnvavtrp dsesscvlse lhplvlprvp qskvlyitsn pmslcqasrh qpnvndllvh
      361 gmplqprnls lmdklldldd kllmrpgsst ilstrnwpnr avefstssls ytvqstrrrn
      421 ppprtlhpis tshscaetpr sveeilrgar v
//
LOCUS       XP_054223588             268 aa            linear   PRI 20-MAR-2023
DEFINITION  phospholipase A and acyltransferase 5 isoform X1 [Homo sapiens].
ACCESSION   XP_054223588
VERSION     XP_054223588.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367613.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..268
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..268
                     /product="phospholipase A and acyltransferase 5 isoform
                     X1"
                     /calculated_mol_wt=28997
     CDS             1..268
                     /gene="PLAAT5"
                     /gene_synonym="HRASLS5; HRLP5; HRSL5; iNAT; PLAAT-5; RLP1"
                     /coded_by="XM_054367613.1:134..940"
                     /db_xref="GeneID:117245"
                     /db_xref="HGNC:HGNC:24978"
                     /db_xref="MIM:611474"
ORIGIN      
        1 mglspgaege yalrlpripp plpkpasrta gtgpkdqppa lrrsavphse svgfaalvql
       61 pakqpppgtl eqgrsiqqge kavvslettp sqkadwssip kpenegklik qaaegkprpr
      121 pgdlieifri gyehwaiyve ddcvvhlapp seefevgsit sifsnravvk ysrledvlhg
      181 cswkvnnkld gtylplpvdk iiqrtkkmvn kivqyslieg ncehfvnglr ygvprsqqve
      241 halmegakaa gavisavvds ikpkpita
//
LOCUS       XP_054225394            1201 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA2-interacting transcriptional repressor EMSY isoform X47 [Homo
            sapiens].
ACCESSION   XP_054225394
VERSION     XP_054225394.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369419.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1201
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1201
                     /product="BRCA2-interacting transcriptional repressor EMSY
                     isoform X47"
                     /calculated_mol_wt=127820
     CDS             1..1201
                     /gene="EMSY"
                     /gene_synonym="C11orf30; GL002"
                     /coded_by="XM_054369419.1:151..3756"
                     /db_xref="GeneID:56946"
                     /db_xref="HGNC:HGNC:18071"
                     /db_xref="MIM:608574"
ORIGIN      
        1 mpvvwptlld lsrdeckril rkleleayag visalraqgd ltkekkdllg elskvlsist
       61 erhraevrra vnderlttia hnmsgpnsss ewsiegrrlv plmprlvpqt aftvtanava
      121 naaiqhnasl pvpaetgske vvcysytstt stptstpvps gsiatvkspr paspasnvvv
      181 lpsgstvyvk svscsdedek prkrrrtnss ssspvvlkev pkavvpvskt itvpvsgspk
      241 msnimqsian slpphmspvk itftkpstqt tntttqkvii vttspsstfv pnilskshny
      301 aavtklvpts viasttqkpp vvitasqssl vsnsssgsss stpspipntv avtavvsstp
      361 svvmstvaqg vstsaikmas trlpspkslv saptqilaqf pkqhqqspkq qlyqvqqqtq
      421 qqvaqpspvs hqqqpqqspl ppgikptiqi kqesgvkiit qqvqpskilp kpvtatlpts
      481 snspimvvss ngaimttklv ttptgtqaty trptvspsig rmaatpgaat yvkttsgsii
      541 tvvpkslatl ggkiissniv sgtttkitti pmtskpnviv vqkttgkgtt iqglpgknvv
      601 ttllnaggek tiqtvptgak pailtatrpi tkmivtqpkg igstvqpaak iiptkivygq
      661 qgktqvlikp kpvtfqatvv seqtrqlvte tlqqasrvae agnssiqegk eepqnytdss
      721 ssstessqss qvshrsqpqq psqpqrtllq hvaqsqtatq tsvvvksipa sspgaithim
      781 qqalsshtaf tkhseelgte egeveemdtl dpqtglfyrs altqsqsakq qklsqppleq
      841 tqlqvktlqc fqtkqkqtih lqadqlqhkl pqmpqlsirh qkltplqqeq aqpkpdvqht
      901 qhpmvakdrq lptlmaqppq tvvqvlavkt tqqlpklqqa pnqpkiyvqp qtpqsqmslp
      961 assekqtasq veqpiitqgs svtkitfegr qpptvtkitg gssvpkltsp vtsispiqas
     1021 ektavsdilk mslmeaqidt nvehmivdpp kkalatsmlt geagslpsth mvvagmanst
     1081 pqqqkcresc sspstvgssl ttrkidppav patgqfmriq nvgqkkaees paeiiiqaip
     1141 qyaipchsss nvvvepsgll elnnftsqql ddeetameqd idsstedgte pspsqssaer
     1201 s
//
LOCUS       XP_054225812            1100 aa            linear   PRI 20-MAR-2023
DEFINITION  myelin regulatory factor isoform X9 [Homo sapiens].
ACCESSION   XP_054225812
VERSION     XP_054225812.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369837.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1100
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1100
                     /product="myelin regulatory factor isoform X9"
                     /calculated_mol_wt=118763
     CDS             1..1100
                     /gene="MYRF"
                     /gene_synonym="11orf9; C11orf9; CUGS; MMERV; MRF; Ndt80;
                     pqn-47"
                     /coded_by="XM_054369837.1:110..3412"
                     /db_xref="GeneID:745"
                     /db_xref="HGNC:HGNC:1181"
                     /db_xref="MIM:608329"
ORIGIN      
        1 mevvdeteal qrffeghdin galepsnidt sileeyiske dasdlcfpdi sapassasys
       61 hgqpampgss gvhhlsppgg gpspgrhgpl pppgygtpln cnnnngmgaa pkpfpggtgp
      121 pikaepkapy apgtlpdspp dsgseayspq qrdlymkaep piphyaamgq glvptdlhht
      181 qqsqmlhqll qqhgaelpth pskkrkhses ppstlnaqml ngmikqepgt vtalplhptr
      241 apsppwppqg plspgpgslp lsiarvqtpp whppgapspg llqdsdslsg syldpnyqsi
      301 kwqphqqnkw atlydanyke lpmltyrvda dkgfnfsvgd dafvcqkknh fqvtvyigml
      361 gepkyvktpe glkpldcfyl klhgvkleal nqsinieqsq sdrskrpfnp vtvnlppeqv
      421 tkvtvgrlhf settannmrk kgkpnpdqry fmlvvalqah aqnqnytlaa qiseriivra
      481 snpgqfesds dvlwqraqvp dtvfhhgrvg intdrpdeal vvhgnvkvmg slmhpsdlra
      541 kehvqevdtt eqlkrisrmr lvhyrykpef aasagieata petgviaqev keilpeavkd
      601 tgdmvfangk tienflvvnk erifmenvga vkelckltdn letrideler wshklaklrr
      661 ldslkstgss gafshagsqf sragsvphkk rppkvaskss svvpdqacis qrflqgtiia
      721 lvvvmafsvv smstlyvlsl rteedlvdtd gsfavstscl lallrpqppg gsealcpwss
      781 qsfgttqlrq splttglpgi qpslllvtts ltssapgsav rtldmcsshp cpviccsspt
      841 tnpttgpslg psfnpghvls pspspstnrs gpsqmallpv tnirakswgl svngighskh
      901 hksleplasp avpfpggqgk aknspslgfh grarrgalqs svgpaeptwa qgqsasllae
      961 pvpsltsiqv lensmsitsq ycapgdacrp gnftyhipvs sgtplhlslt lqmnssspvs
     1021 vvlcslrske epceegslpq slhthqdtqg tshrwpitil sfreftyhfr vallgqancs
     1081 sealaqpatd yhfhfyrlcd
//
LOCUS       XP_054227006             856 aa            linear   PRI 20-MAR-2023
DEFINITION  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2
            isoform X2 [Homo sapiens].
ACCESSION   XP_054227006
VERSION     XP_054227006.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371031.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..856
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..856
                     /product="arf-GAP with GTPase, ANK repeat and PH
                     domain-containing protein 2 isoform X2"
                     /calculated_mol_wt=92814
     CDS             1..856
                     /gene="AGAP2"
                     /gene_synonym="CENTG1; GGAP2; PIKE"
                     /coded_by="XM_054371031.1:91..2661"
                     /db_xref="GeneID:116986"
                     /db_xref="HGNC:HGNC:16921"
                     /db_xref="MIM:605476"
ORIGIN      
        1 mhaqrqfvva avraevrrhe vakqalnrlr klaervddpe lqdsiqasld sireavinsq
       61 ewtlsrsipe lrlgvlgdar sgksslihrf ltgsyqvlek teseqykkem lvdgqthlvl
      121 ireeagapda kfsgwadavi fvfsledens fqavsrlhgq lsslrgegrg glalalvgtq
      181 drisassprv vgdararalc admkrcsyye tcatyglnvd rvfqevaqkv vtlrkqqqll
      241 aackslpssp shsaastpva gqasngghts dyssslpssp nvghrelrae aaavaglstp
      301 gslhraakrr tslfanrrgs dsekrsldsr gettgsgrai pikqsfllkr sgnslnkewk
      361 kkyvtlssng fllyhpsind yihsthgkem dllrttvkvp gkrppraisa fgpsasingl
      421 vkdmstvqmg egleattpmp spspspsslq pppdqtskhl lkpdrnlara lstdctpsgd
      481 lsplsreppp spmvkkqrrk klttpskteg sagqaeakrk mwklksfgsl rniykaeenf
      541 eflivsstgq twhfeaasfe erdawvqaie sqilaslqcc esskvklrtd sqseavaiqa
      601 irnakgnsic vdcgapnptw aslnlgalic iecsgihrnl gthlsrvrsl dlddwprelt
      661 lvltaigndt anrvwesdtr grakpsrdss reereswira kyeqllflap lstseeplgr
      721 qlwaavqaqd vatvllllah arhgpldtsv edpqlrsplh laaelahvvi tqlllwygad
      781 vaardaqgrt alfyarqags qlcadillqh gcpgeggsaa ttpsaattps itatpsprrr
      841 ssaasvgrad apvalv
//
LOCUS       XP_054227995             445 aa            linear   PRI 20-MAR-2023
DEFINITION  keratin, type II cytoskeletal 7 isoform X1 [Homo sapiens].
ACCESSION   XP_054227995
VERSION     XP_054227995.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372020.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..445
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..445
                     /product="keratin, type II cytoskeletal 7 isoform X1"
                     /calculated_mol_wt=50119
     CDS             1..445
                     /gene="KRT7"
                     /gene_synonym="CK7; K2C7; K7; SCL"
                     /coded_by="XM_054372020.1:55..1392"
                     /db_xref="GeneID:3855"
                     /db_xref="HGNC:HGNC:6445"
                     /db_xref="MIM:148059"
ORIGIN      
        1 msihfsspvf tsrsaafsgr gaqvrlssar pgglgsssly glgasrprva vrsayggpvg
       61 agirevtinq sllaplrlda dpslqrvrqe eseqiktlnn kfasfidkvr fleqqnklle
      121 tkwtllqeqk sakssrlpdi feaqiaglrg qlealqvdgg rleaelrsmq dvvedfknky
      181 edeinrrtaa enefvvlkkd vdaaymskve leakvdalnd einflrtlne teltelqsqi
      241 sdtsvvlsmd nsrsldldgi iaevkaqyee makcsraeae awyqtkfetl qaqagkhgdd
      301 lrntrneise mnraiqrlqa eidniknqra kleaaiaeae ergelalkda rakqeeleaa
      361 lqrakqdmar qlreyqelms vklaldieia tyrkllegee srvcklrpha gflfvnqvfl
      421 epshtasfky clwlwllymt tewss
//
LOCUS       XP_054229835             174 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase MARCHF9 isoform X1 [Homo sapiens].
ACCESSION   XP_054229835
VERSION     XP_054229835.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373860.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..174
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..174
                     /product="E3 ubiquitin-protein ligase MARCHF9 isoform X1"
                     /calculated_mol_wt=18699
     CDS             1..174
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
                     /coded_by="XM_054373860.1:427..951"
                     /db_xref="GeneID:92979"
                     /db_xref="HGNC:HGNC:25139"
                     /db_xref="MIM:613336"
ORIGIN      
        1 mlksrlrmfl nelkllvltg ggrpraepqp rggrgggcgw apfagcstrd gdgdeeeyyg
       61 seprarglag dkepragplp ppapplpppg aldalslsss ldsglrtpqc ricfqgpeqg
      121 ellspcrcdg svrcthqpcl irwisergsw scelcyfkyq vlaistknpl qalf
//
LOCUS       XP_054231615            1469 aa            linear   PRI 20-MAR-2023
DEFINITION  pecanex-like protein 1 isoform X18 [Homo sapiens].
ACCESSION   XP_054231615
VERSION     XP_054231615.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375640.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1469
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1469
                     /product="pecanex-like protein 1 isoform X18"
                     /calculated_mol_wt=161536
     CDS             1..1469
                     /gene="PCNX1"
                     /gene_synonym="PCNX; PCNXL1; pecanex"
                     /coded_by="XM_054375640.1:393..4802"
                     /db_xref="GeneID:22990"
                     /db_xref="HGNC:HGNC:19740"
                     /db_xref="MIM:617655"
ORIGIN      
        1 mgsqtlqilr qgvwaalsgg wyydphqatf vnalhlylwl fllglpftly malpstmiiv
       61 avycpviaav fivlkmvnyr lhraldagev vdrtaneftd qrtkaeqgnc strrkdsngp
      121 sdpgggiems efireatppv gcssrnsyag ldpsnqigsg ssrlgtaati kgdtdtakts
      181 ddislslgqs sslckegsee qdlaadrklf rlvsndsfis iqpslsscgq dlprdfsdkv
      241 nlpshnhhhh vdqslssacd tevaslvplh shsyrkdhrp rgvprtsssa vafpdtslnd
      301 fplyqqrrgl dpvselessk plsgskeslv ensglsgefq lagdlkints qpptksgksk
      361 plkaeksmds lrslstrssg stesycsgtd rdtnstvssy kseqtssthi esilsehees
      421 pkagtksgrk keccagpeek nscasdkrts sekiameast nsgvheakdp tpsdemhnqr
      481 glstsaseea nknphaneft sqgdrppgnt aenkeeksdk savsvdskvr kdvggkqkeg
      541 dvrpksssvi hrtasahksg rrrtgkkras sfdssrhrdy vcfrgvsgtk phsaifchde
      601 dssdqsdlsr assvqsahqf ssdsssstts hscqspegry salktkhthk ergtdsehth
      661 kahlvpegts kkratrrtss tnsaktrarv lsldsgtvac lndsnrlmap esikplttsk
      721 sdleakegev ldelsllgra sqletvtrsr nslpnqvafp egeeqdavsg aaqaseeavs
      781 frrerstfrr qavrrrhnag snptpptlli gsplslqdgq qgqqstaqvk vqsrppsqaa
      841 vlsasasllv rngsvhleas hdnasavggs slhdelgkfs stlyetggcd mslvnfepaa
      901 rrasnicdtd shvssstsvr fyphdvlslp qirlnrllti dtdlleqqdi dlspdlaaty
      961 gpteeaaqkv khyyrfwilp qlwiginfdr ltllalfdrn reilenvlav ilailvaflg
     1021 silliqgffr diwvfqfclv iascqysllk svqpdssspr hghnriiays rpvyfciccg
     1081 liwlldygsr nltatkfkly gitftnplvf isardlvivf tlcfpivffi gllpqvntfv
     1141 mylceqldih ifggnattsl laalysfics ivavallygl cygalkdswd gqhipvlfsi
     1201 fcgllvavsy hlsrqssdps vlfslvqski fpkteeknpe dplsevkdpl peklrnsvse
     1261 rlqsdlvvci vigvlyfaih vstvftvlqp alkyvlytlv gfvgfvthyv lpqvrkqlpw
     1321 hcfshpllkt leynqyevri liytalldaa tmmwfeklhv wllfveknii yplivlnels
     1381 ssaetiaspk klntelgalm itvaglkllr ssfssptyqy vtviftvlff kfdyeafset
     1441 mlldlffmsi lfnkhktsgs fkyqigfpa
//
LOCUS       XP_054236338            1440 aa            linear   PRI 20-MAR-2023
DEFINITION  multidrug resistance-associated protein 1 isoform X16 [Homo
            sapiens].
ACCESSION   XP_054236338
VERSION     XP_054236338.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380363.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1440
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1440
                     /product="multidrug resistance-associated protein 1
                     isoform X16"
                     /calculated_mol_wt=161159
     CDS             1..1440
                     /gene="ABCC1"
                     /gene_synonym="ABC29; ABCC; DFNA77; GS-X; MRP; MRP1"
                     /coded_by="XM_054380363.1:137..4459"
                     /db_xref="GeneID:4363"
                     /db_xref="HGNC:HGNC:51"
                     /db_xref="MIM:158343"
ORIGIN      
        1 malrgfcsad gsdplwdwnv twntsnpdft kcfqntvlvw vpcfylwacf pfyflylsrh
       61 drgyiqmtpl nktktalgfl lwivcwadlf ysfwersrgi flapvflvsp tllgitmlla
      121 tfliqlerrk gvqssgimlt fwlvalvcal ailrskimta lkenpcpess asflsritfw
      181 witglivrgy rqplegsdlw slnkedtseq vvpvlvknwk kecaktrkqp vkvvysskdp
      241 aqpkesskvd aneevealiv kspqkewnps lfkvlyktfg pyflmsfffk aihdlmmfsg
      301 pqilkllikf vndtkapdwq gyfytvllfv taclqtlvlh qyfhicfvsg mriktaviga
      361 vyrkalvitn sarksstvge ivnlmsvdaq rfmdlatyin miwsaplqvi lalyllwlnl
      421 gpsvlagvav mvlmvpvnav mamktktyqv ahmkskdnri klmneilngi kvlklyawel
      481 afkdkvlair qeelkvlkks aylsavgtft wvctpflasv slkrlrifls heelepdsie
      541 rrpvkdgggt nsitvrnatf twarsdpptl ngitfsipeg alvavvgqvg cgkssllsal
      601 laemdkvegh vaikgsvayv pqqawiqnds lrenilfgcq leepyyrsvi qacallpdle
      661 ilpsgdrtei gekgvnlsgg qkqrvslara vysnadiylf ddplsavdah vgkhifenvi
      721 gpkgmlknkt rilvthsmsy lpqvdviivm sggkisemgs yqellardga faeflrtyas
      781 teqeqdaeen gvtgvsgpgk eakqmengml vtdsagkqlq rqlsssssys gdisrhhnst
      841 aelqkaeakk eetwklmead kaqtgqvkls vywdymkaig lfisflsifl fmcnhvsala
      901 snywlslwtd dpivngtqeh tkvrlsvyga lgisqgiavf gysmavsigg ilasrclhvd
      961 llhsilrspm sffertpsgn lvnrfskeld tvdsmipevi kmfmgslfnv igacivilla
     1021 tpiaaiiipp lgliyffvqr fyvassrqlk rlesvsrspv yshfnetllg vsvirafeeq
     1081 erfihqsdlk vdenqkayyp sivanrwlav rlecvgnciv lfaalfavis rhslsaglvg
     1141 lsvsyslqvt tylnwlvrms semetnivav erlkeysete keapwqiqet appsswpqvg
     1201 rvefrnyclr yredldfvlr hinvtingge kvgivgrtga gkssltlglf rinesaegei
     1261 iidginiaki glhdlrfkit iipqdpvlfs gslrmnldpf sqysdeevwt slelahlkdf
     1321 vsalpdkldh ecaeggenls vgqrqlvcla rallrktkil vldeataavd letddliqst
     1381 irtqfedctv ltiahrlnti mdytrvivld kgeiqeygap sdllqqrglf ysmakdaglv
//
LOCUS       XP_054236433             413 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptotagmin-17 isoform X7 [Homo sapiens].
ACCESSION   XP_054236433
VERSION     XP_054236433.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380458.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..413
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..413
                     /product="synaptotagmin-17 isoform X7"
                     /calculated_mol_wt=46754
     CDS             1..413
                     /gene="SYT17"
                     /gene_synonym="Syt-17; sytXVII"
                     /coded_by="XM_054380458.1:596..1837"
                     /db_xref="GeneID:51760"
                     /db_xref="HGNC:HGNC:24119"
ORIGIN      
        1 masrssdkdg dsvhtasevp ltprtnspdg rrsssdtsks tysltrriss lesrrpsspl
       61 idikpiefgv lsakkepiqp svlrrtynpd dyfrkfephl ysldsnsddv dsltdeeils
      121 kyqlgmlhfs tqydllhnhl tvrvieardl pppishdgsr qdmahsnpyv kicllpdqkn
      181 skqtgvkrkt qkpvfeeryt feipfleaqr rtllltvvdf dkfsrhcvig kvsvplcevd
      241 lvkgghwwka lipssqneve lgelllslny lpsagrlnvd virakqllqt dvsqgsdpfv
      301 kiqlvhglkl vktkktsflr gtidpfynes fsfkvpqeel enaslvftvf ghnmkssndf
      361 igrivigqys sgpsetnhwr rmlnthrtav eqwhslrsra ecdrvspasl evt
//
LOCUS       XP_054171623             350 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 28 isoform X1 [Homo sapiens].
ACCESSION   XP_054171623
VERSION     XP_054171623.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315648.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..350
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..350
                     /product="TBC1 domain family member 28 isoform X1"
                     /calculated_mol_wt=38756
     CDS             1..350
                     /gene="TBC1D28"
                     /coded_by="XM_054315648.1:1641..2693"
                     /db_xref="GeneID:254272"
                     /db_xref="HGNC:HGNC:26858"
ORIGIN      
        1 msteaalest dhlfpkpncl agvvpegasl arrhpvpdst clqvprtahr gdftlskwtp
       61 fvlpgqghra gaavdlgheq vdvrkytnnl givhemalpr vsalevkqrr keskrtnkwq
      121 kmladwtkyr stkklsqrvc kviplavrgr alsllldidk iksqnpgkyk vmkekgkrss
      181 riihciqldv shtlqkhmmf iqrfgvkqqe lcdilvaysa ynpaalgllq drgqflvllk
      241 spgpsdwrvt sreqpswasp gtntclhpls mscsalrgaw lawitsclds afpettvaag
      301 ldvtkspcfm lflevlafva serkaiwcfg esprdappdg llqafcsalv
//
LOCUS       XP_054172352             125 aa            linear   PRI 20-MAR-2023
DEFINITION  ADP-ribosylation factor-like 17-like isoform X4 [Homo sapiens].
ACCESSION   XP_054172352
VERSION     XP_054172352.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316377.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..125
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..125
                     /product="ADP-ribosylation factor-like 17-like isoform X4"
                     /calculated_mol_wt=13897
     CDS             1..125
                     /gene="ARL17A"
                     /gene_synonym="ARF1P2; ARL17P1"
                     /coded_by="XM_054316377.1:140..517"
                     /db_xref="GeneID:51326"
                     /db_xref="HGNC:HGNC:24096"
ORIGIN      
        1 mgnifeklfk sllgkkkmri lilsldtagk ttilyklklg etvpavptvg fcvetveykn
       61 ntfavwdvgs hfkirplwqh ffqntkelsa sqfaqfikkl cgvtgtndea spgsltsyps
      121 hlldr
//
LOCUS       XP_054173444             496 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein regulatory complex subunit 3 isoform X4 [Homo sapiens].
ACCESSION   XP_054173444
VERSION     XP_054173444.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317469.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..496
                     /product="dynein regulatory complex subunit 3 isoform X4"
                     /calculated_mol_wt=57171
     CDS             1..496
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /coded_by="XM_054317469.1:291..1781"
                     /db_xref="GeneID:83450"
                     /db_xref="HGNC:HGNC:25384"
                     /db_xref="MIM:618758"
ORIGIN      
        1 mnqpcnsmep rvmdddmlkl avgdqgpqee agqlakqegi lfkdvlslql dfrsktadep
       61 kgeqddgqed sqedilridn lwqfenlrkl qldnniieki eglenlahlv wldlsfnnie
      121 tiegldtlvn ledlslfnnr iskidsldal vklqvlslgn nridnmmnii ylrrfkclrt
      181 lslsrnpise aedykmfica ylpdlmyldy wriddhtasv slsvsqpcet dssspqkkla
      241 eakhqyside lkhqenlmqa qledeqaqre elekhktafv ehlngsflfd smyaedsegn
      301 nlsylpgvge lletykdkfv iicvnifeyg lkqqekrkte ldtfsecvre aiqenqeqgk
      361 rkiakfeekh lsslsairee lelpniekmi lecsadisel fdalmtlemq lveqleetin
      421 mfernivdmv glfienvqsl maqcrdlenh hheklleisi stlekivegd ldedlpndlr
      481 agrfqkfnyv easgtf
//
LOCUS       XP_054176383            1136 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 45 isoform X5 [Homo sapiens].
ACCESSION   XP_054176383
VERSION     XP_054176383.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320408.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1136
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1136
                     /product="rho GTPase-activating protein 45 isoform X5"
                     /calculated_mol_wt=124481
     CDS             1..1136
                     /gene="ARHGAP45"
                     /gene_synonym="HA-1; HLA-HA1; HMHA1"
                     /coded_by="XM_054320408.1:1036..4446"
                     /db_xref="GeneID:23526"
                     /db_xref="HGNC:HGNC:17102"
                     /db_xref="MIM:601155"
ORIGIN      
        1 mfsrkkrelm ktpsiskknr agspspqpsg elprkdgada vfpgpslepp agssgvkatg
       61 tlkrptslsr hasaagfpls gaaswtlgrs hrspltaasp gelptegagp dvvedishll
      121 advarfaegl eklkecvlhd dllearrpra heclgealrv mhqiiskypl lntvetltaa
      181 gtliakvkaf hyesnndlek qefekaleti avafsstvse flmgevdsst llavppgdss
      241 qsmeslygpg segtppsldd cdagclpaee vdvllqrceg gvdaallyak nmakymkdli
      301 sylekrttle mefakglqki ahncrqsvmq ephmpllsiy slaleqdlef ghsmvqavgt
      361 lqtqtfmqpl tlrrlehekr rkeikeawhr aqrklqeaes nlrkakqgyv qrcedhdkar
      421 flvakaeeeq agsapgagst atktldkrrr leeeaknkae eamatyrtcv adaktqkqel
      481 edtkvtalrq iqevirqsdq tiksatisyy qmmhmqtapl pvhfqmlces sklydpgqqy
      541 ashvrqlqrd qepdvhydfe phvsanawsp vmrarkssfn vsdvarpeaa gsppeeggct
      601 egtpakdhra grghqvhksw plsisdsdsg ldpgpgagdf kkfertsssg tmssteelvd
      661 pdggagasaf eqadlngmtp elpvavpsgp frheglskaa rthrlrklrt pakcrecnsy
      721 vyfqgaecee cclachkkcl etlaiqcghk klqgrlqlfg qdfshaarsa pdgvpfivkk
      781 cvceierral rtkgiyrvng vktrveklcq afengkelve lsqasphdis nvlklylrql
      841 peplisfrly helvglakds lkaeaeakaa srgrqdgses eavavalagr lrellrdlpp
      901 enraslqyll rhlrriveve qdnkmtpgnl givfgptllr prpteatvsl sslvdyphqa
      961 rvietlivhy glvfeeepee tpggqdessn qraevvvqvp yleageavvy plqeaaadgc
     1021 resrvvsnds dsdleeasel lssseasalg hlsfleqqqs easlevasgs hsgseeqlea
     1081 taredgdgde dgpaqqlsgf ntnqsnnvlq aplppmrlrg grmmlgscre rqpefv
//
LOCUS       XP_054176521             249 aa            linear   PRI 20-MAR-2023
DEFINITION  dickkopf-like protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054176521
VERSION     XP_054176521.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320546.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..249
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..249
                     /product="dickkopf-like protein 1 isoform X3"
                     /calculated_mol_wt=27754
     CDS             1..249
                     /gene="DKKL1"
                     /gene_synonym="CT34; SGY; SGY-1; SGY1"
                     /coded_by="XM_054320546.1:259..1008"
                     /db_xref="GeneID:27120"
                     /db_xref="HGNC:HGNC:16528"
                     /db_xref="MIM:605418"
ORIGIN      
        1 mwpdkgtvep asppaparrh llvlllllst lvipsaaapi hdadaqessl gltglqsllq
       61 gfsrlflkgn llrgidslfs apmdfrglpg nyhkeenqeh qlgnntlssh lqidkrtdnk
      121 tgevlisenv vasiqpaegs fegdlkvprm eekealvpiq katdsfhtel hprvafwiik
      181 lprrrshqda legshwlsek rhrlqairdg lrkgthkdvl kegtessshs rlsprkthll
      241 yilrpsrql
//
LOCUS       XP_054177300             543 aa            linear   PRI 20-MAR-2023
DEFINITION  transcriptional repressor p66-alpha isoform X7 [Homo sapiens].
ACCESSION   XP_054177300
VERSION     XP_054177300.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321325.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 11% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..543
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..543
                     /product="transcriptional repressor p66-alpha isoform X7"
                     /calculated_mol_wt=58217
     CDS             1..543
                     /gene="GATAD2A"
                     /gene_synonym="p66alpha"
                     /coded_by="XM_054321325.1:366..1997"
                     /db_xref="GeneID:54815"
                     /db_xref="HGNC:HGNC:29989"
                     /db_xref="MIM:614997"
ORIGIN      
        1 mkserrppsp dvivlsdneq pssprvnglt tvalketste almksspeer ermikqlkee
       61 lrleeaklvl lkklrqsqiq keataqkptg svgstvttpp plvrgtqnip agkpslqtss
      121 armpgsvipp plvrggqqas sklgpqassq vvmpplvrga qqihsirqhs stgpppllla
      181 prasvpsvqi qgqriiqqgl irvanvpnts llvnipqptp aslkgttats aqanstptsv
      241 asvvtsaesp asrqaaakla lrkqlektll eipppkppap emnflpsaan nefiylvgle
      301 evvqnlletq agrmsaatvl srepymcaqc ktdftcrwre eksgaimcen cmttnqkkal
      361 kvehtsrlka afvkalqqeq eieqrllqqg tapaqakaep taaphpvlkq vikprrklaf
      421 rsgeardwsn gavlqassql srgsattprg vlhtfspspk lqnsasatal vsrtgrhser
      481 tvsagkgsat snwkktplst ggtlafvsps lavhksssav drqreylldm ipprsipqsa
      541 twk
//
LOCUS       XP_054177891            1437 aa            linear   PRI 20-MAR-2023
DEFINITION  perilipin-4 isoform X4 [Homo sapiens].
ACCESSION   XP_054177891
VERSION     XP_054177891.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321916.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1437
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1437
                     /product="perilipin-4 isoform X4"
                     /calculated_mol_wt=142129
     CDS             1..1437
                     /gene="PLIN4"
                     /gene_synonym="KIAA1881; S3-12"
                     /coded_by="XM_054321916.1:1865..6178"
                     /db_xref="GeneID:729359"
                     /db_xref="HGNC:HGNC:29393"
                     /db_xref="MIM:613247"
ORIGIN      
        1 msapdegrrd ppkpkgktlg sffgslpgfs sarnlvanah ssararpaad ptgapaaeaa
       61 qpqaqvaahp eqtapwteke lqpsekmvsg akdlvcskms rakdavssgv asvvdvakgv
      121 vqggldttrs altgtkeavs sgvtgamdma kgavqggldt skavltgtkd tvstgltgav
      181 nvakgtvqag vdttktvltg tkdtvttgvm gavnlakgtv qtgvetskav ltgtkdavst
      241 gltgavnvar gsiqtgvdts ktvltgtkdt vcsgvtsamn vakgtiqtgv dtsktvltgt
      301 kdtvcsgvtg amnvakgtiq tgvdtsktvl tgtkdtvcsg vtgamnvakg tiqtgvdttk
      361 tvltgtkntv csgvtgavnl akeaiqggld ttksmvmgtk dtmstgltga anvakgamqt
      421 glnttqniat gtkdavcsgv tgamnlargt iqtgvdttki vltgtkdtvc sgvtgaanva
      481 kgavqggldt tksvltgtkd avstgltgav nvakgtvqtg vdttktvltg tkdtvcsgvt
      541 savnvakgav qggldttksv vigtkdtmst gltgaanvak gavqtgvdta ktvltgtkdt
      601 vttglvgavn vakgtvqtgm dttktvltgt kdtiysgvts avnvakgavq tglkttqnia
      661 tgtkntfgsg vtgavnvakg avqtgvdtak tvltgtkdtv ttglmgavnv akgtvqtsvd
      721 ttktvltgtk dtvcsgvtga anvakgavqt gvdtaktvlt gtkdtvcsgv tgavnvakga
      781 vqtglkttqn iatgtkntlg sgvtgaanva kgavqggldt tksvltgtkd avstgltgav
      841 nlakgtvqtg mdttktvltg tkdavcsgvt gaanvakgav qtgvdtaktv ltgtkdtvtt
      901 glmgavnvak gtvqtsvdtt ktvltgtkdt vcsgvtgaan vakgavqggl dttksvltgt
      961 kdtvstgltg avnlakgtvq tgvdtsktvl tgtkdtvcsg vtgavnvakg tvqtgvdtak
     1021 tvlsgakdav ttgvtgavnv akgtvqtgvd askavlmgtk dtvfsgvtga msmakgavqg
     1081 gldttktvlt gtkdavsagl mgsgnvatga thtglstfqn wlpstpatsw ggltssrttd
     1141 nggeqtalsp qeapfsgist ppdvlsvgpe paweaaattk glatdvatft qgaapgredt
     1201 gllttthgpe eaprlamlqn eleglgdifh pmnaeeqaql aasqpgpkvl saeqgsyfvr
     1261 lgdlgpsfrq rafehavshl qhgqfqardt laqlqdcfrl iekaqqapeg qprldqgsga
     1321 saedaavqee rdagvlsrvc gllrqlhtay sglvsslqgl paelqqpvgr arhslcelyg
     1381 ivasagsvee lpaerlvqsr egvhqawqgl eqlleglqhn pplswlvgpf alpaggq
//
LOCUS       XP_054196639             488 aa            linear   PRI 20-MAR-2023
DEFINITION  prominin-2 isoform X3 [Homo sapiens].
ACCESSION   XP_054196639
VERSION     XP_054196639.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340664.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..488
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..488
                     /product="prominin-2 isoform X3"
                     /calculated_mol_wt=54469
     CDS             1..488
                     /gene="PROM2"
                     /gene_synonym="PROML2"
                     /coded_by="XM_054340664.1:149..1615"
                     /db_xref="GeneID:150696"
                     /db_xref="HGNC:HGNC:20685"
                     /db_xref="MIM:617160"
ORIGIN      
        1 mvqeenstfn alpalaamqt ssvvqelkka vaqqpegvrt laegfpglea asrwaqalqe
       61 veessrpylq evqryetyrw ivgcvlcsvv lfvvlcnllg lnlgiwglsa rddpshpeak
      121 geagarflma gvglsflfaa plillvfatf lvggnvqtlv cqswengelf efadtpgnlp
      181 psmnlsqllg lrknisihqa yqqckegaal wtvlqlndsy dleehldinq ytnklrqelq
      241 slkvdtqsld llssaarrdl ealqssglqr ihypdflvqi qrpvvktsme qlaqelqgla
      301 qaqdnsvlgq rlqeeaqglr nlhqekvvpq qslvaklnls vralessapn lqletsdvla
      361 nvtylkgelp awaarilrnv secflaremg yfsqyvawvr eevtqriatc qplsgaldns
      421 rvilcdmmad pwnafwfcla wctfflipsi ifavktskyf rpirkrlsst sseetqlfhi
      481 prvtslkl
//
LOCUS       XP_054198558             770 aa            linear   PRI 20-MAR-2023
DEFINITION  PMS1 protein homolog 1 isoform X4 [Homo sapiens].
ACCESSION   XP_054198558
VERSION     XP_054198558.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342583.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..770
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..770
                     /product="PMS1 protein homolog 1 isoform X4"
                     /calculated_mol_wt=86512
     CDS             1..770
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /coded_by="XM_054342583.1:136..2448"
                     /db_xref="GeneID:5378"
                     /db_xref="HGNC:HGNC:9121"
                     /db_xref="MIM:600258"
ORIGIN      
        1 mkqlpaatvr llsssqiits vvsvvkelie nsldagatsv dvklenygfd kievrdngeg
       61 ikavdapvma mkyytskins hedlenltty gfrgealgsi cciaevlitt rtaadnfstq
      121 yvldgsghil sqkpshlgqg ttvtalrlfk nlpvrkqfys takkckdeik kiqdllmsfg
      181 ilkpdlrivf vhnkaviwqk srvsdhkmal msvlgtavmn nmesfqyhse esqiylsgfl
      241 pkcdadhsft slstpersfi finsrpvhqk dilklirhhy nlkclkestr lypvfflkid
      301 vptadvdvnl tpdksqvllq nkesvliale nlmttcygpl pstnsyennk tdvsaadivl
      361 sktaetdvlf nkvessgkny snvdtsvipf qndmhndesg kntddclnhq isigdfgygh
      421 csseisnidk ntknafqdis msnvswensq teysktcfis svkhtqseng nkdhidesge
      481 neeeaglens seisadewsr gnilknsvge niepvkilvp ekslpckvsn nnypipeqmn
      541 lnedscnkks nvidnksgkv taydllsnrv ikkpmsasal fvqdhrpqfl ienpktsled
      601 atlqieelwk tlseeeklnl fngshyldvl ykmtaddqry sgstylsdpr ltangfkikl
      661 ipgvsiteny leiegmancl pfygvadlke ilnailnrna kevyecrprk visylegeav
      721 rlsrqlpmyl skediqdiiy rmkhqfgnei kecvhgrpff hhltylpett
//
LOCUS       XP_054199773             607 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein kinase ZAP-70 isoform X2 [Homo sapiens].
ACCESSION   XP_054199773
VERSION     XP_054199773.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343798.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..607
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..607
                     /product="tyrosine-protein kinase ZAP-70 isoform X2"
                     /calculated_mol_wt=68364
     CDS             1..607
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /coded_by="XM_054343798.1:200..2023"
                     /db_xref="GeneID:7535"
                     /db_xref="HGNC:HGNC:12858"
                     /db_xref="MIM:176947"
ORIGIN      
        1 mpdpaahlpf fygsisraea eehlklagma dglfllrqcl rslggyvlsl vhdvrfhhfp
       61 ierqlngtya iaggkahcgp aelcefysrd pdglpcnlrk pcnrpsglep qpgvfdclrd
      121 amvrdyvrqt wklegealeq aiisqapqve kliattaher mpwyhssltr eeaerklysg
      181 aqtdgkfllr prkeqgtyal sliygktvyh ylisqdkagk ycipegtkfd tlwqlveylk
      241 lkadgliycl keacpnssas nasgaaaptl pahpstlthp qrridtlnsd gytpeparit
      301 spdkprpmpm dtsvyespys dpeelkdkkl flkrdnllia dielgcgnfg svrqgvyrmr
      361 kkqidvaikv lkqgtekadt eemmreaqim hqldnpyivr ligvcqaeal mlvmemaggg
      421 plhkflvgkr eeipvsnvae llhqvsmgmk yleeknfvhr dlaarnvllv nrhyakisdf
      481 glskalgadd syytarsagk wplkwyapec infrkfssrs dvwsygvtmw ealsygqkpy
      541 kkmkgpevma fieqgkrmec ppecppelya lmsdcwiykv ssahadsplg lcihrcrcle
      601 ssprphr
//
LOCUS       XP_054178937             188 aa            linear   PRI 20-MAR-2023
DEFINITION  signal-regulatory protein delta isoform X2 [Homo sapiens].
ACCESSION   XP_054178937
VERSION     XP_054178937.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322962.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..188
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..188
                     /product="signal-regulatory protein delta isoform X2"
                     /calculated_mol_wt=20935
     CDS             1..188
                     /gene="SIRPD"
                     /gene_synonym="dJ576H24.4; PTPNS1L2"
                     /coded_by="XM_054322962.1:53..619"
                     /db_xref="GeneID:128646"
                     /db_xref="HGNC:HGNC:16248"
ORIGIN      
        1 mpipasplhp plpslllyll lelagvthvf hvqqtemsqt vstgesiils csvpdtlpng
       61 pvlwfkgtgp nrkliynfkq gnfprvkeig dttkpgntdf strireisla dagtyycvkf
      121 ikgraikeyq sgrgtqvfvt gytpwqrrgi nctkiihpvt qqlykqmtit slsgceedqy
      181 peflqcii
//
LOCUS       XP_054179309             316 aa            linear   PRI 20-MAR-2023
DEFINITION  lysophosphatidylserine lipase ABHD12 isoform X12 [Homo sapiens].
ACCESSION   XP_054179309
VERSION     XP_054179309.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323334.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..316
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..316
                     /product="lysophosphatidylserine lipase ABHD12 isoform
                     X12"
                     /calculated_mol_wt=34216
     CDS             1..316
                     /gene="ABHD12"
                     /gene_synonym="ABHD12A; BEM46L2; C20orf22; dJ965G21.2;
                     hABHD12; PHARC"
                     /coded_by="XM_054323334.1:354..1304"
                     /db_xref="GeneID:26090"
                     /db_xref="HGNC:HGNC:15868"
                     /db_xref="MIM:613599"
ORIGIN      
        1 mtydalhvfd wikarsgdnp vyiwghslgt gvatnlvrrl ceretppdal ilespftnir
       61 eeakshpfsv iyryfpgfdw ffldpitssg ikfandenvk hiscpllilh aeddpvvpfq
      121 lgrkvgpglc lwcswhlahs asvggpgwew aggkaapacc itgcapatsg sgghlilpas
      181 ppgcfgrtwe vwckgwgrgp lmlsprtmkn kqivpsphtg virvrclcyq spgqpgnsag
      241 rahqlwaegk epldedlpsp lqgsqsklie kllacflafg ialipepdha vcgasvfafa
      301 efaltvskld wicgse
//
LOCUS       XP_054179500            1330 aa            linear   PRI 20-MAR-2023
DEFINITION  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1
            isoform X1 [Homo sapiens].
ACCESSION   XP_054179500
VERSION     XP_054179500.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323525.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1330
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1330
                     /product="1-phosphatidylinositol 4,5-bisphosphate
                     phosphodiesterase gamma-1 isoform X1"
                     /calculated_mol_wt=152693
     CDS             1..1330
                     /gene="PLCG1"
                     /gene_synonym="NCKAP3; PLC-II; PLC1; PLC148; PLCgamma1"
                     /coded_by="XM_054323525.1:205..4197"
                     /db_xref="GeneID:5335"
                     /db_xref="HGNC:HGNC:9065"
                     /db_xref="MIM:172420"
ORIGIN      
        1 magaaspcan gcgpgapsda evlhlcrsle vgtvmtlfys kksqrperkt fqvkletrqi
       61 twsrgadkie gaidireike irpgktsrdf dryqedpafr pdqshcfvil ygmefrlktl
      121 slqatsedev nmwikgltwl medtlqaptp lqierwlrkq fysvdrnred risakdlknm
      181 lsqvnyrvpn mrflrerltd leqrsgdity gqfaqlyrsl mysaqktmdl pfleastlra
      241 gerpelcrvs lpefqqflld yqgelwavdr lqvqefmlsf lrdplreiee pyffldefvt
      301 flfskensvw nsqldavcpd tmnnplshyw issshntylt gdqfssessl eayarclrmg
      361 crcieldcwd gpdgmpviyh ghtlttkikf sdvlhtikeh afvaseypvi lsiedhcsia
      421 qqrnmaqyfk kvlgdtlltk pveisadglp spnqlkrkil ikhkklaegs ayeevptsmm
      481 ysendisnsi kngilyledp vnhewyphyf vltsskiyys eetssdqgne deeepkevss
      541 stelhsnekw fhgklgagrd grhiaerllt eycietgapd gsflvreset fvgdytlsfw
      601 rngkvqhcri hsrqdagtpk ffltdnlvfd slydlithyq qvplrcnefe mrlsepvpqt
      661 naheskewyh asltraqaeh mlmrvprdga flvrkrnepn syaisfraeg kikhcrvqqe
      721 gqtvmlgnse fdslvdlisy yekhplyrkm klrypineea lekigtaepd ygalyegrnp
      781 gfyveanpmp tfkcavkalf dykaqredel tftksaiiqn vekqeggwwr gdyggkkqlw
      841 fpsnyveemv npvalepere hldensplgd llrgvldvpa cqiairpegk nnrlfvfsis
      901 masvahwsld vaadsqeelq dwvkkireva qtadarlteg kimerrkkia lelselvvyc
      961 rpvpfdeeki gteracyrdm ssfpetkaek yvnkakgkkf lqynrlqlsr iypkgqrlds
     1021 snydplpmwi cgsqlvalnf qtpdkpmqmn qalfmtgrhc gyvlqpstmr deafdpfdks
     1081 slrglepcai sievlgarhl pkngrgivcp fveievagae ydstkqktef vgqsvfpvil
     1141 lillghckpl ptshpilshg dlkpfvvaft vdnglnpvwp akpfhfqisn pefaflrfvv
     1201 yeedmfsdqn flaqatfpvk glktgyravp lknnysedle lasllikidi fpakqengdl
     1261 spfsgtslre rgsdasgqlf hgraregsfe sryqqpfedf risqehladh fdsrerrapr
     1321 rtrvngdnrl
//
LOCUS       XP_054180617             295 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C21orf58 isoform X3 [Homo sapiens].
ACCESSION   XP_054180617
VERSION     XP_054180617.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324642.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..295
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..295
                     /product="uncharacterized protein C21orf58 isoform X3"
                     /calculated_mol_wt=31839
     CDS             1..295
                     /gene="C21orf58"
                     /coded_by="XM_054324642.1:171..1058"
                     /db_xref="GeneID:54058"
                     /db_xref="HGNC:HGNC:1300"
ORIGIN      
        1 maieysgwsp ggkarpagnt gawapaeqff pasnrtregg glwpplplqs spaaptmlds
       61 saaeqvtrlt lkllgqkleq erqnveggpe glhlepgned rpddalqtal krrrdllqrl
      121 reqhlldels raqawsgpsr galgsalppe lpptgilpta spsplapdpp riilptvpqp
      181 patiiqqlpq qpliaqippp qafptqrsgs ikedmvelll lqnaqvhqlv lqnwmlkalp
      241 palqdpphvp prvpraarpr lpavhhhhhh hhavwppgaa tvlqpapslw tpgpp
//
LOCUS       XP_054202586             908 aa            linear   PRI 20-MAR-2023
DEFINITION  macrophage-stimulating protein receptor isoform X26 [Homo sapiens].
ACCESSION   XP_054202586
VERSION     XP_054202586.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346611.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..908
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..908
                     /product="macrophage-stimulating protein receptor isoform
                     X26"
                     /calculated_mol_wt=97340
     CDS             1..908
                     /gene="MST1R"
                     /gene_synonym="CD136; CDw136; NPCA3; p185-Ron; PTK8; RON;
                     SEA"
                     /coded_by="XM_054346611.1:265..2991"
                     /db_xref="GeneID:4486"
                     /db_xref="HGNC:HGNC:7381"
                     /db_xref="MIM:600168"
ORIGIN      
        1 mellpplpqs fllllllpak paagedwqcp rtpyaasrdf dvkyvvpsfs agglvqamvt
       61 yegdrnesav fvairnrlhv lgpdlksvqs latgpagdpg cqtcaacgpg phgppgdtdt
      121 kvlvldpalp alvscgsslq grcflhdlep qgtavhlaap aclfsahhnr pddcpdcvas
      181 plgtrvtvve qgqasyfyva ssldaavaas fsprsvsirr lkadasgfap gfvalsvlpk
      241 hlvsysieyv hsfhtgafvy fltvqpasvt ddpsalhtrl arlsatepel gdyrelvldc
      301 rfapkrrrrg apeggqpypv lrvahsapvg aqlatelsia egqevlfgvf vtgkdggpgv
      361 gpnsvvcafp idlldtlide gverccespv hpglrrgldf fqspsfcpnp pglealspnt
      421 scrhfpllvs ssfsrvdlfn gllgpvqvta lyvtrldnvt vahmgtmdgr ilqvelvrsl
      481 nyllyvsnfs lgdsgqpvqr dvsrlgdhll fasgdqvfqv pirgpgcrhf ltcgrclraw
      541 hfmgcgwcgn mcgqqkecpg swqqdhcppk ltefhphsgp lrgstrltlc gsnfylhpsg
      601 lvpegthqvt vgqspcrplp kdssklrpvp rkdfveefec eleplgtqav gptnvsltvt
      661 nmppgkhfrv dgtsvlrgfs fmepvliavq plfgpraggt cltlegqsls vgtsravlvn
      721 gtecllarvs egqllcatpp gatvasvpls lqvggaqvpg swtfqyredp vvlsispncg
      781 yinshiticg qhltsawhlv lsfhdglrav esrqcerqlp eqqlcrlpey vvrdpqgwva
      841 gnlsargdga agftlpgfrf lppphppsan lvplkpeeha ikfevsvrdr grdswgsesr
      901 gqptgwss
//
LOCUS       XP_054203446            1402 aa            linear   PRI 20-MAR-2023
DEFINITION  roundabout homolog 2 isoform X15 [Homo sapiens].
ACCESSION   XP_054203446
VERSION     XP_054203446.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347471.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1402
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1402
                     /product="roundabout homolog 2 isoform X15"
                     /calculated_mol_wt=153806
     CDS             1..1402
                     /gene="ROBO2"
                     /gene_synonym="SAX3"
                     /coded_by="XM_054347471.1:409..4617"
                     /db_xref="GeneID:6092"
                     /db_xref="HGNC:HGNC:10250"
                     /db_xref="MIM:602431"
ORIGIN      
        1 mlssekveki trlellfvlm lflsgptlsk ltrtpwkgkp wkggsrlrqe dfpprivehp
       61 sdvivskgep ttlnckaegr ptptiewykd gervetdkdd prshrmllps gslfflrivh
      121 grrskpdegs yvcvarnylg eavsrnasle vallrddfrq nptdvvvaag epailecqpp
      181 rghpeptiyw kkdkvriddk eerisirggk lmisntrksd agmytcvgtn mvgerdsdpa
      241 eltvferptf lrrpinqvvl eeeavefrcq vqgdpqptvr wkkddadlpr grydikddyt
      301 lrikktmstd egtymciaen rvgkmeasat ltvrarpvap pqfvvrprdq ivaqgrtvtf
      361 pcetkgnpqp avfwqkegsq nllfpnqpqq pnsrcsvspt gdltitniqr sdagyyicqa
      421 ltvagsilak aqlevtdvlt drpppiilqg panqtlavdg tallkckatg dplpviswlk
      481 egftfpgrdp ratiqeqgtl qiknlrisdt gtytcvatss sgetswsavl dvtesgatis
      541 knydlsdlpg ppskpqvtdv tknsvtlswq pgtpgtlpas ayiieafsqs vsnswqtvan
      601 hvkttlytvr glrpntiylf mvrainpqgl sdpspmsdpv rtqdisppaq gvdhrqvqke
      661 lgdvlvrlhn pvvltpttvq vtwtvdrqpq fiqgyrvmyr qtsglqatss wqnldakvpt
      721 ersavlvnlk kgvtyeikvr pyfnefqgmd sesktvrtte eapsappqsv tvltvgsyns
      781 tsisvswdpp ppdhqngiiq eykiwclgne trfhinktvd aairsviigg lfpgiqyrve
      841 vaastsagvg vksepqpiii grrnevvite nnnsiteqit dvvkqpafia giggacwvil
      901 mgfsiwlywr rkkrkglsny avtfqrgdgg lmsngsrpgl lnagdpsypw ladswpatsl
      961 pvnnsnsgpn eignfgrgdv lppvpgqgdk tatmlsdgai yssidfttkt synsssqitq
     1021 atpyattqil hsnsihelav dlpdpqwkss iqqktdlmgf gyslpdqnkg gkggkkkknk
     1081 nsskpqknng stwanvplpp ppvqplpgte lehyaveqqe ngydsdswcp plpvqtylhq
     1141 gledeleedd drvptppvrg vasspaisfg qqstatltps preemqpmlq ahldeltray
     1201 qfdiakqtwh iqsnnqppqp pvpplgyvsg alisdletdv adddaddeee aleiprplra
     1261 ldqtpgssmd nldssvtgka ftssqrprpt spfstdsnts aalsqsqrpr ptkkhkggrm
     1321 dqqpalphrr egmtdeealv pyskpsfpsp gghsssgtas skgstgprkt evlraghqrn
     1381 asdlldigym gsnsqgqftg el
//
LOCUS       XP_054204340             322 aa            linear   PRI 20-MAR-2023
DEFINITION  protein RFT1 homolog isoform X5 [Homo sapiens].
ACCESSION   XP_054204340
VERSION     XP_054204340.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348365.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..322
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..322
                     /product="protein RFT1 homolog isoform X5"
                     /calculated_mol_wt=35584
     CDS             1..322
                     /gene="RFT1"
                     /gene_synonym="CDG1N"
                     /coded_by="XM_054348365.1:48..1016"
                     /db_xref="GeneID:91869"
                     /db_xref="HGNC:HGNC:30220"
                     /db_xref="MIM:611908"
ORIGIN      
        1 mlvclpdvmh svvafinwke akltwsffkq sflkqilteg eryvmtflnv lnfgdqgvyd
       61 ivnnlgslva rlifqpiees fyiffakvle rgkdatlqkq edvavaaavl esllklalla
      121 gltitvfgfa ysqlaldiyg gtmlssgsgp vllrsyclyv lllaingvte cftfaamske
      181 evdrynfvml alsssflvls ylltrwcgsv gfilancfnm giritqslcf ihryyrrsph
      241 rplaglhlsp vllgtfalsg gvtavsevfl cceqgwparl ahiavgafcl gatlgtaflt
      301 etklihflrt qlgvprrtdk mt
//
LOCUS       XP_054213488             498 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase EZH2 isoform X27 [Homo sapiens].
ACCESSION   XP_054213488
VERSION     XP_054213488.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357513.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..498
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..498
                     /product="histone-lysine N-methyltransferase EZH2 isoform
                     X27"
                     /calculated_mol_wt=56969
     CDS             1..498
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /coded_by="XM_054357513.1:136..1632"
                     /db_xref="GeneID:2146"
                     /db_xref="HGNC:HGNC:3527"
                     /db_xref="MIM:601573"
ORIGIN      
        1 mgqtgkksek gpvcwrkrvk seymrlrqlk rfrradevks mfssnrqkil erteilnqew
       61 kqrriqpvhi ltsvsslrgt recsvtsdld fptqviplkt lnavasvpim yswsplqqnf
      121 mvedetvlhn ipymgdevld qdgtfieeli knydgkvhgd recgfindei fvelvnalgq
      181 yndddddddg ddpeereekq kdledhrddk esrpprkfps dkifeaissm fpdkgtaeel
      241 kekykelteq qlpgalppec tpnidgpnak svqreqslhs fhtlfcrrcf kydcflhpfh
      301 atpntykrkn tetaldnkpc gpqcyqhleg akefaaalta eriktppkrp ggrrrgrlpn
      361 nssrpstpti nvleskdtds dreagtetgg enndkeeeek kdetssssea nsrcqtpikm
      421 kpnieppenv ewsgaeasmf rvligtyydn fcaiarligt ktcrqvyefr vkessiiapa
      481 paedvdtppr kkkrkhrl
//
LOCUS       XP_054216066             954 aa            linear   PRI 20-MAR-2023
DEFINITION  protein-tyrosine kinase 2-beta isoform X7 [Homo sapiens].
ACCESSION   XP_054216066
VERSION     XP_054216066.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360091.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..954
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..954
                     /product="protein-tyrosine kinase 2-beta isoform X7"
                     /calculated_mol_wt=109572
     CDS             1..954
                     /gene="PTK2B"
                     /gene_synonym="CADTK; CAKB; FADK2; FAK2; PKB; PTK; PYK2;
                     RAFTK"
                     /coded_by="XM_054360091.1:446..3310"
                     /db_xref="GeneID:2185"
                     /db_xref="HGNC:HGNC:9612"
                     /db_xref="MIM:601212"
ORIGIN      
        1 msgvseplsr vklgtlrrpe gpaepmvvvp vdvekedvri lkvcfysnsf npgknfklvk
       61 ctvqteirei itsillsgri gpnirlaecy glrlkhmksd eihwlhpqmt vgevqdkyec
      121 lhveaewryd lqirylpedf meslkedrtt llyfyqqlrn dymqryaskv segmalqlgc
      181 lelrrffkdm phnaldkksn fellekevgl dlffpkqmqe nlkpkqfrkm iqqtfqqyas
      241 lreeecvmkf fntlagfani dqetyrceli qgwnitvdlv igpkgirqlt sqdakptcla
      301 efkqirsirc lpleegqavl qlgiegapqa lsiktsslae aenmadlidg ycrlqdgekr
      361 nslpqipmln learrshlse scsiesdiya eipdetlrrp ggpqygiare dvvlnrilge
      421 gffgevyegv ytnhkgekin vavktckkdc tldnkekfms eavimknldh phivkligii
      481 eeeptwiime lypygelghy lernknslkv ltlvlyslqi ckamaylesi ncvhrdiavr
      541 nilvaspecv klgdfglsry iededyykas vtrlpikwms pesinfrrft tasdvwmfav
      601 cmweilsfgk qpffwlenkd vigvlekgdr lpkpdlcppv lytlmtrcwd ydpsdrprft
      661 elvcslsdvy qmekdiameq ernaryrtpk ileptafqep ppkpsrpkyr pppqtnllap
      721 klqfqeedfi qpssreeaqq lweaekvkmr qildkqqkqm vedyqwlrqe eksldpmvym
      781 ndtspltpek evgyleftgp pqkpprlgaq siqptanldr tddlvylnvm elvravlelk
      841 nelcqlppeg yvvvvknvgl tlrkligsvd dllpslpsss rteiegtqkl lnkdlaelin
      901 kmrlaqqnav tslseeckrq mltashtlav daknlldavd qakvlanlah ppae
//
LOCUS       XP_054217010            1857 aa            linear   PRI 20-MAR-2023
DEFINITION  fer-1-like protein 6 isoform X3 [Homo sapiens].
ACCESSION   XP_054217010
VERSION     XP_054217010.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361035.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1857
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1857
                     /product="fer-1-like protein 6 isoform X3"
                     /calculated_mol_wt=209192
     CDS             1..1857
                     /gene="FER1L6"
                     /gene_synonym="C8ORFK23"
                     /coded_by="XM_054361035.1:648..6221"
                     /db_xref="GeneID:654463"
                     /db_xref="HGNC:HGNC:28065"
ORIGIN      
        1 mfglkvkkkr nkaekglila nkaakdsqgd tealqeepsh qegprgdlvh ddasifpvps
       61 aspkrrskll tkihdgevrs qnyqiaitit earqlvgeni dpvvtieigd ekkqstvkeg
      121 tnspfyneyf vfdfigpqvh lfdkiikisv fhhkligsvl igsfkvdlgt vynqpghqfc
      181 nkwalltdpg dirtgtkgyl kcdisvmgkg dvlktspkts dteepieknl lipngfpler
      241 pwarfyvrly kaeglpkmns simanvtkaf vgdskdlvdp fvevsfagqm grttvqknca
      301 dpvwheqvif kemfpplcrr vkiqvwdegs mndvalathf idlkkisneq dgdkgflptf
      361 gpawinlygs prnhslmddy qemnegfgeg vsfrgrilve iaveilsgra qeskfskalk
      421 elklpskdkd sksskgkdka dktedgksqq asnktnstev evesfdvppe ivpekneefl
      481 lfgaffeatm idrkigdkpi sfevsignfg nlidggshhg skksaesaee dllpllhegq
      541 gdvahdvpip mastthpekp lvtegnrnyn ylpfeakkpc vyfisswgdq tfrlhwsnml
      601 ekmadflees ieevreliki sqeapeekmk tvlsdfisrs safiseaekk pkmlnqttld
      661 kkrltlcwqe leamckeakg iiqqqkkkls vdemiheaqn fvekirflvd epqhtipdvf
      721 iwmlsnnrrv ayariaskdl lyspvagqmg khcgkikthf lkppgkrpag wsvqakvdvy
      781 lwlgsikhas aildnlpvgy eaemsskgag tnhppsnlly qeqhvfqlra hmyqarglia
      841 adsnglsdpf akvtflshcq ttkiisqtls ptwnqmllfn dlvlhgdvke laespplvvv
      901 elydsdavgk peylgatvaa pvvkladqdy epprlcyhpi fcgnlsggdl lavfellqvp
      961 psglqglppv eppditqiyp vpanirpvls kyrvevlfwg vremkkvqll svdrpqalie
     1021 cggqgvkscv iqsyknnpnf siqadafeve lpenellhpp lsicvvdwra fgrstlvgty
     1081 tinylkqflc klreplapit qvdgtqpghe isdsltates sgahsssqdp padhiyvdve
     1141 ppptvvpdsa qaqpailvdv pdsspmlepe htpvaqeppk dgkpkdprkp srrstkrrkr
     1201 tiadesaenv idwwskyyas lkkaqkaker npkgkkgnte akpdevvvdi edgpkkkkdk
     1261 mlkkkpkddg ipnlailqiy dgdlesefnn fedwvktfel frgksteddh gldgdrvigk
     1321 fkgsfciyks pqdsssedsg qlriqqgipp nhpvtvlirv yivaafnlsp adpdgksdpy
     1381 iviklgktei kdrdkyipkq lnpvfgrsfe iqatfpkesl lsiliydhdm igtddliget
     1441 kidlenrfys khraicglqs qyeiegynaw rdtskpteil tklckdnkld gpyfhpgkiq
     1501 ignqvfsgkt ifteedtdet vesyehlalk vlhswedipe vgcrlvpehi etrplyhkdk
     1561 pgmeqgrlqm wvdmfpkdmp qpgppvdisp rrpkgyelrv tiwntedvil edeniftgqk
     1621 ssdiyvkgwl kgleddkqet dvhynsltge gnfnwrflfp fqylpaekqm vitkrenifs
     1681 lekmecktpa vlvlqvwdfe rlssddflgt lemnlnsfpr aaksakacdl akfenaseet
     1741 kisifqqkrv rgwwpfsksk eltgkveaef hlvtaeeaek npvgkarkep eplakpnrpd
     1801 tsfswfmspf kclyyliwkn ykkyiiiafi liiliiflvl fiytlpgais rrivvgs
//
LOCUS       XP_054217187             419 aa            linear   PRI 20-MAR-2023
DEFINITION  homeobox-containing protein 1 isoform X5 [Homo sapiens].
ACCESSION   XP_054217187
VERSION     XP_054217187.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361212.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..419
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..419
                     /product="homeobox-containing protein 1 isoform X5"
                     /calculated_mol_wt=47018
     CDS             1..419
                     /gene="HMBOX1"
                     /gene_synonym="HNF1LA; HOT1; PBHNF; TAH1"
                     /coded_by="XM_054361212.1:373..1632"
                     /db_xref="GeneID:79618"
                     /db_xref="HGNC:HGNC:26137"
                     /db_xref="MIM:618610"
ORIGIN      
        1 mlssfpvvll etmshytdep rftieqidll qrlrrtgmtk heilhaletl drldqehsdk
       61 fgrrssyggs sygnstnnvp assstatast qtqhsgmsps psnsydtspq pcttnqngre
      121 nnerlstsng kmsptryhan smgqrsysfe aseedldvdd kveelmrrds svikeeikaf
      181 lanrrisqav vaqvtgisqs rishwllqqg sdlseqkkra fyrwyqlekt npgatlsmrp
      241 apipiedpew rqtpppvsat sgtfrlrrgs rftwrkecla vmesyfnenq ypdeakreei
      301 anacnaviqk pgkklsdler vtslkvynwf anrrkeikrr aniaailesh gidvqspggh
      361 snsddvdgnd yseqddstsh sdhqdpisla vemaavnhti lalarqgane iktealddd
//
LOCUS       XP_054219597             411 aa            linear   PRI 20-MAR-2023
DEFINITION  snRNA-activating protein complex subunit 3 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054219597
VERSION     XP_054219597.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363622.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..411
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..411
                     /product="snRNA-activating protein complex subunit 3
                     isoform X1"
                     /calculated_mol_wt=46622
     CDS             1..411
                     /gene="SNAPC3"
                     /gene_synonym="PTFbeta; SNAP50"
                     /coded_by="XM_054363622.1:5..1240"
                     /db_xref="GeneID:6619"
                     /db_xref="HGNC:HGNC:11136"
                     /db_xref="MIM:602348"
ORIGIN      
        1 maegsrggpt csgvggrqdp vsgsggcnfp eyelpelntr afhvgafgel wrgrlrgagd
       61 lslreppasa lpgsqaadsd redaavardl dcsleaaael ravcgldklk cledgedpev
      121 ipentdlvtl gvrkrflehr eetitidrac rqetfvyeme shaigkkpen sadmieegel
      181 ilsvnilypv ifhkhkehkp yqtmlvlgsq kltqlrdsir cvsdlqigge fsntpdqape
      241 hiskdlyksa ffyfegtfyn dkrypecrdl srtiiewses hdrgygkfqt armedftfnd
      301 lciklgfpyl ychqgdcehv ivitdirlvh hddcldrtly pllikkhwlw trkcfvckmy
      361 tarwvtnnds fapedpcffc dvcfrmlhyd segnklgefl aypyvdpgtf n
//
LOCUS       XP_054219717             301 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM166B isoform X1 [Homo sapiens].
ACCESSION   XP_054219717
VERSION     XP_054219717.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363742.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..301
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..301
                     /product="protein FAM166B isoform X1"
                     /calculated_mol_wt=33712
     CDS             1..301
                     /gene="FAM166B"
                     /coded_by="XM_054363742.1:235..1140"
                     /db_xref="GeneID:730112"
                     /db_xref="HGNC:HGNC:34242"
ORIGIN      
        1 magqgdsgew eslccrytgh cpllrfsvgq tygqvtgqll rgppglawpp vhrtllppir
       61 pprspevpre slpvrrgqer lsssmipgyt gfvpraqfif akncsqvwae alsdfthlhe
      121 kqgseelpke akgrkdtekd qvpepegqle eptlevveqa spysmddrdp rkffmsaflc
      181 sptrhcrnlg rsthqavprt pnisphfpeh tlrtwvfylt mgatcqgiss slathlaisp
      241 mmlwasapsr ssswlrpldi kfpslfilsq psfwkgerwv ggwegggtqr engleaehlf
      301 y
//
LOCUS       XP_054183934             258 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 164 isoform X2 [Homo sapiens].
ACCESSION   XP_054183934
VERSION     XP_054183934.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327959.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..258
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..258
                     /product="transmembrane protein 164 isoform X2"
                     /calculated_mol_wt=29100
     CDS             1..258
                     /gene="TMEM164"
                     /gene_synonym="bB360B22.3"
                     /coded_by="XM_054327959.1:385..1161"
                     /db_xref="GeneID:84187"
                     /db_xref="HGNC:HGNC:26217"
ORIGIN      
        1 msrysyqsll dwlyggvdps fagnggpdca aflswqqrll esvvvltlal leilvalrhi
       61 lrqtkedgrg spgsqpeqvt qrpeegkesl sknlllvalc ltfgvevgfk fatktviyll
      121 npchlvtmmh lpfeleiyyi qhvmlyvvpi yllwkggayt peplssfrwa llstglmffy
      181 hfsvlqilgl vtevnlnnml cpaisdpfyg pwyriwasgh qtlmtmthgk lvilfsymag
      241 plckylldll rlpakkid
//
LOCUS       NP_001299603             444 aa            linear   PRI 17-APR-2023
DEFINITION  coagulation factor X isoform 2 precursor [Homo sapiens].
ACCESSION   NP_001299603
VERSION     NP_001299603.1
DBSOURCE    REFSEQ: accession NM_001312674.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 444)
  AUTHORS   Dong W, Wang J, Tian L, Zhang J, Settles EW, Qin C,
            Steinken-Kollath DR, Itogawa AN, Celona KR, Yi J, Bryant M, Mead H,
            Jaramillo SA, Lu H, Li A, Zumwalt RE, Dadwal S, Feng P, Yuan W,
            Whelan SPJ, Keim PS, Barker BM, Caligiuri MA and Yu J.
  TITLE     Factor Xa cleaves SARS-CoV-2 spike protein to block viral entry and
            infection
  JOURNAL   Nat Commun 14 (1), 1936 (2023)
   PUBMED   37024459
  REMARK    GeneRIF: Factor Xa cleaves SARS-CoV-2 spike protein to block viral
            entry and infection.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 444)
  AUTHORS   Schroer K, Alshawabkeh M, Schellhorn S, Bronder K, Zhang W and
            Ehrhardt A.
  TITLE     Influence of Heparan Sulfate Proteoglycans and Factor X on species
            D Human Adenovirus Uptake and Transduction
  JOURNAL   Viruses 15 (1), 55 (2022)
   PUBMED   36680095
  REMARK    GeneRIF: Influence of Heparan Sulfate Proteoglycans and Factor X on
            species D Human Adenovirus Uptake and Transduction.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 444)
  AUTHORS   Zekri-Nechar K, Zamorano-Leon JJ, Reche C, Giner M, Lopez-de-Andres
            A, Jimenez-Garcia R, Lopez-Farre AJ and Martinez-Martinez CH.
  TITLE     Spike Protein Subunits of SARS-CoV-2 Alter Mitochondrial Metabolism
            in Human Pulmonary Microvascular Endothelial Cells: Involvement of
            Factor Xa
  JOURNAL   Dis Markers 2022, 1118195 (2022)
   PUBMED   36438904
  REMARK    GeneRIF: Spike Protein Subunits of SARS-CoV-2 Alter Mitochondrial
            Metabolism in Human Pulmonary Microvascular Endothelial Cells:
            Involvement of Factor Xa.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 444)
  AUTHORS   Traets MJM, Nijhuis RHT, Morre SA, Ouburg S, Remijn JA, Blok BA, de
            Laat B, Jong E, Herder GJM, Fiolet ATL and Verweij SP.
  TITLE     Association of genetic variations in ACE2, TIRAP and factor X with
            outcomes in COVID-19
  JOURNAL   PLoS One 17 (1), e0260897 (2022)
   PUBMED   34995294
  REMARK    GeneRIF: Association of genetic variations in ACE2, TIRAP and
            factor X with outcomes in COVID-19.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 444)
  AUTHORS   Huang MN, Hung HL, Stanfield-Oakley SA and High KA.
  TITLE     Characterization of the human blood coagulation factor X promoter
  JOURNAL   J Biol Chem 267 (22), 15440-15446 (1992)
   PUBMED   1322399
REFERENCE   6  (residues 1 to 444)
  AUTHORS   Messier TL, Pittman DD, Long GL, Kaufman RJ and Church WR.
  TITLE     Cloning and expression in COS-1 cells of a full-length cDNA
            encoding human coagulation factor X
  JOURNAL   Gene 99 (2), 291-294 (1991)
   PUBMED   1902434
REFERENCE   7  (residues 1 to 444)
  AUTHORS   Hassan HJ, Leonardi A, Chelucci C, Mattia G, Macioce G, Guerriero
            R, Russo G, Mannucci PM and Peschle C.
  TITLE     Blood coagulation factors in human embryonic-fetal development:
            preferential expression of the FVII/tissue factor pathway
  JOURNAL   Blood 76 (6), 1158-1164 (1990)
   PUBMED   1698100
REFERENCE   8  (residues 1 to 444)
  AUTHORS   Broze GJ Jr, Girard TJ and Novotny WF.
  TITLE     Regulation of coagulation by a multivalent Kunitz-type inhibitor
  JOURNAL   Biochemistry 29 (33), 7539-7546 (1990)
   PUBMED   2271516
  REMARK    Review article
REFERENCE   9  (residues 1 to 444)
  AUTHORS   Rawala-Sheikh R, Ahmad SS, Ashby B and Walsh PN.
  TITLE     Kinetics of coagulation factor X activation by platelet-bound
            factor IXa
  JOURNAL   Biochemistry 29 (10), 2606-2611 (1990)
   PUBMED   2110473
REFERENCE   10 (residues 1 to 444)
  AUTHORS   Leytus,S.P., Chung,D.W., Kisiel,W., Kurachi,K. and Davie,E.W.
  TITLE     Characterization of a cDNA coding for human factor X
  JOURNAL   Proc Natl Acad Sci U S A 81 (12), 3699-3702 (1984)
   PUBMED   6587384
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB158437.1, CD013940.1,
            AL137002.19 and BC046125.1.
            
            Summary: This gene encodes the vitamin K-dependent coagulation
            factor X of the blood coagulation cascade. This factor undergoes
            multiple processing steps before its preproprotein is converted to
            a mature two-chain form by the excision of the tripeptide RKR. Two
            chains of the factor are held together by 1 or more disulfide
            bonds; the light chain contains 2 EGF-like domains, while the heavy
            chain contains the catalytic domain which is structurally
            homologous to those of the other hemostatic serine proteases. The
            mature factor is activated by the cleavage of the activation
            peptide by factor IXa (in the intrisic pathway), or by factor VIIa
            (in the extrinsic pathway). The activated factor then converts
            prothrombin to thrombin in the presence of factor Va, Ca+2, and
            phospholipid during blood clotting. Mutations of this gene result
            in factor X deficiency, a hemorrhagic condition of variable
            severity. Alternative splicing results in multiple transcript
            variants encoding different isoforms that may undergo similar
            proteolytic processing to generate mature polypeptides. [provided
            by RefSeq, Aug 2015].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the coding region, compared to variant 1. It encodes
            isoform 2, which is shorter than isoform 1. This isoform (2) may
            undergo proteolytic processing similar to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CD013940.1, DRR138524.6519.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..444
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     Protein         1..444
                     /product="coagulation factor X isoform 2 precursor"
                     /EC_number="3.4.21.6"
                     /note="prothrombinase; factor Xa; Stuart-Prower factor"
                     /calculated_mol_wt=47722
     sig_peptide     1..23
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2361
     Region          25..85
                     /region_name="GLA"
                     /note="Domain containing Gla (gamma-carboxyglutamate)
                     residues; smart00069"
                     /db_xref="CDD:214503"
     Region          86..122
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(86,89,103)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          191..420
                     /region_name="Tryp_SPc"
                     /note="Trypsin-like serine protease; Many of these are
                     synthesized as inactive precursor zymogens that are
                     cleaved during limited proteolysis to generate their
                     active forms. Alignment contains also inactive enzymes
                     that have substitutions of the catalytic triad...;
                     cd00190"
                     /db_xref="CDD:238113"
     Site            191
                     /site_type="active"
                     /note="cleavage site [active]"
                     /db_xref="CDD:238113"
     Site            order(232,278,375)
                     /site_type="active"
                     /db_xref="CDD:238113"
     Site            order(369,394,396)
                     /site_type="other"
                     /note="substrate binding sites [chemical binding]"
                     /db_xref="CDD:238113"
     CDS             1..444
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /coded_by="NM_001312674.2:58..1392"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="GeneID:2159"
                     /db_xref="HGNC:HGNC:3528"
                     /db_xref="MIM:613872"
ORIGIN      
        1 mgrplhlvll saslagllll geslfirreq annilarvtr ansfleemkk ghlerecmee
       61 tcsyeearev fedsdktnef wnkykdgdqc etspcqnqgk ckdglgeytc tclegfegkn
      121 celwpypcgk qtlerrkrsv aqatsssgea pdsitwkpyd aadldptenp fdlldfnqtq
      181 pergdnnltr ivggqeckdg ecpwqallin eenegfcggt ilsefyilta ahclyqakrf
      241 kvrvgdrnte qeeggeavhe vevvikhnrf tketydfdia vlrlktpitf rmnvapaclp
      301 erdwaestlm tqktgivsgf grthekgrqs trlkmlevpy vdrnscklss sfiitqnmfc
      361 agydtkqeda cqgdsggphv trfkdtyfvt givswgegca rkgkygiytk vtaflkwidr
      421 smktrglpka kshapevits splk
//
LOCUS       NP_001308034            1210 aa            linear   PRI 17-APR-2023
DEFINITION  sodium bicarbonate cotransporter 3 isoform f [Homo sapiens].
ACCESSION   NP_001308034 XP_011532561
VERSION     NP_001308034.1
DBSOURCE    REFSEQ: accession NM_001321105.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1210)
  AUTHORS   Severin M, Pedersen EL, Borre MT, Axholm I, Christiansen FB,
            Ponniah M, Czaplinska D, Larsen T, Pardo LA and Pedersen SF.
  TITLE     Dynamic localization of the Na+-HCO3- co-transporter NBCn1 to the
            plasma membrane, centrosomes, spindle and primary cilia
  JOURNAL   J Cell Sci 136 (7) (2023)
   PUBMED   37039101
  REMARK    GeneRIF: Dynamic localization of the Na+-HCO3- co-transporter NBCn1
            to the plasma membrane, centrosomes, spindle and primary cilia.
REFERENCE   2  (residues 1 to 1210)
  AUTHORS   Ali ES, Liponska A, O'Hara BP, Amici DR, Torno MD, Gao P, Asara JM,
            Yap MF, Mendillo ML and Ben-Sahra I.
  TITLE     The mTORC1-SLC4A7 axis stimulates bicarbonate import to enhance de
            novo nucleotide synthesis
  JOURNAL   Mol Cell 82 (17), 3284-3298 (2022)
   PUBMED   35772404
  REMARK    GeneRIF: The mTORC1-SLC4A7 axis stimulates bicarbonate import to
            enhance de novo nucleotide synthesis.
REFERENCE   3  (residues 1 to 1210)
  AUTHORS   Schank JR, Lee S, Gonzalez-Islas CE, Nennig SE, Fulenwider HD,
            Chang J, Li JM, Kim Y, Jeffers LA, Chung J, Lee JK, Jin Z, Aalkjaer
            C, Boedtkjer E and Choi I.
  TITLE     Increased Alcohol Consumption in Mice Lacking Sodium Bicarbonate
            Transporter NBCn1
  JOURNAL   Sci Rep 10 (1), 11017 (2020)
   PUBMED   32620847
  REMARK    GeneRIF: Increased Alcohol Consumption in Mice Lacking Sodium
            Bicarbonate Transporter NBCn1.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1210)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 1210)
  AUTHORS   Pushkin A, Abuladze N, Newman D, Muronets V, Sassani P, Tatishchev
            S and Kurtz I.
  TITLE     The COOH termini of NBC3 and the 56-kDa H+-ATPase subunit are PDZ
            motifs involved in their interaction
  JOURNAL   Am J Physiol Cell Physiol 284 (3), C667-C673 (2003)
   PUBMED   12444018
REFERENCE   6  (residues 1 to 1210)
  AUTHORS   Park M, Ko SB, Choi JY, Muallem G, Thomas PJ, Pushkin A, Lee MS,
            Kim JY, Lee MG, Muallem S and Kurtz I.
  TITLE     The cystic fibrosis transmembrane conductance regulator interacts
            with and regulates the activity of the HCO3- salvage transporter
            human Na+-HCO3- cotransport isoform 3
  JOURNAL   J Biol Chem 277 (52), 50503-50509 (2002)
   PUBMED   12403779
  REMARK    GeneRIF: The cystic fibrosis transmembrane conductance regulator
            interacts with and regulates the activity of the bicarbonate
            salvage trransporter isoform 3
REFERENCE   7  (residues 1 to 1210)
  AUTHORS   Pushkin A, Yip KP, Clark I, Abuladze N, Kwon TH, Tsuruoka S,
            Schwartz GJ, Nielsen S and Kurtz I.
  TITLE     NBC3 expression in rabbit collecting duct: colocalization with
            vacuolar H+-ATPase
  JOURNAL   Am J Physiol 277 (6), F974-F981 (1999)
   PUBMED   10600945
REFERENCE   8  (residues 1 to 1210)
  AUTHORS   Pushkin A, Abuladze N, Lee I, Newman D, Hwang J and Kurtz I.
  TITLE     Cloning, tissue distribution, genomic organization, and functional
            characterization of NBC3, a new member of the sodium bicarbonate
            cotransporter family
  JOURNAL   J Biol Chem 274 (23), 16569-16575 (1999)
   PUBMED   10347222
REFERENCE   9  (residues 1 to 1210)
  AUTHORS   Pushkin A, Abuladze N, Lee I, Newman D, Hwang J and Kurtz I.
  TITLE     Mapping of the human NBC3 (SLC4A7) gene to chromosome 3p22
  JOURNAL   Genomics 57 (2), 321-322 (1999)
   PUBMED   10198178
REFERENCE   10 (residues 1 to 1210)
  AUTHORS   Ishibashi K, Sasaki S and Marumo F.
  TITLE     Molecular cloning of a new sodium bicarbonate cotransporter cDNA
            from human retina
  JOURNAL   Biochem Biophys Res Commun 246 (2), 535-538 (1998)
   PUBMED   9610397
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK309734.1, EU934247.1,
            FJ178574.1, EU934249.1, EU499349.1, AK310865.1, AF053755.1,
            AF047033.1, AL389947.1 and AA569234.1.
            On Mar 18, 2016 this sequence version replaced XP_011532561.1.
            
            Summary: This locus encodes a sodium bicarbonate cotransporter. The
            encoded transmembrane protein appears to transport sodium and
            bicarbonate ions in a 1:1 ratio, and is thus considered an
            electroneutral cotransporter. The encoded protein likely plays a
            critical role in regulation of intracellular pH involved in visual
            and auditory sensory transmission. Alternatively spliced transcript
            variants encoding distinct isoforms have been described. [provided
            by RefSeq, Apr 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EU934247.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1210
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.1"
     Protein         1..1210
                     /product="sodium bicarbonate cotransporter 3 isoform f"
                     /note="sodium bicarbonate cotransporter 2; sodium
                     bicarbonate cotransporter 3; electroneutral Na/HCO(3)
                     cotransporter; bicarbonate transporter; sodium bicarbonate
                     cotransporter 2b; solute carrier family 4, sodium
                     bicarbonate cotransporter, member 7"
                     /calculated_mol_wt=135173
     Region          122..1131
                     /region_name="Band_3_cyto"
                     /note="Band 3 cytoplasmic domain; cl26877"
                     /db_xref="CDD:452680"
     CDS             1..1210
                     /gene="SLC4A7"
                     /gene_synonym="NBC2; NBC3; NBCN1; SBC2; SLC4A6"
                     /coded_by="NM_001321105.2:259..3891"
                     /note="isoform f is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS82748.1"
                     /db_xref="GeneID:9497"
                     /db_xref="HGNC:HGNC:11033"
                     /db_xref="MIM:603353"
ORIGIN      
        1 meadgageqm rplltrvtsr gpdeeavvdl gktsstvntk fekeeleshr avyigvhvpf
       61 skesrrrhrh rghkhhhrrr kdkesdkedg respsydtps qrvqfilgte dddeehiphd
      121 lftemdelcy rdgeeyewke tarwlkfeed vedggdrwsk pyvatlslhs lfelrsciln
      181 gtvmldmras tldeiadmvl dnmiasgqld esirenvrea llkrhhhqne krftsriplv
      241 rsfadigegl sasrhslrtg lsasnlslrg esplslllgh llpssragtp agsrcttpvp
      301 tpqnsppssp sisrltsrss qesqrqapel lvspasddip tvvihppeed leaalkgeeq
      361 kneenvdltp gilaspqsap gnldnsksge ikgngsggsr enstvdfskv dmnfmrkipt
      421 gaeasnvlvg evdflerpii afvrlapavl ltgltevpvp trflflllgp agkapqyhei
      481 grsiatlmtd eifhdvayka kdrndllsgi defldqvtvl ppgewdpsir ieppksvpsq
      541 ekrkipvfhn gstptlgetp keaahhagpe lqrtgrlfgg lildikrkap fflsdfkdal
      601 slqclasilf lycacmspvi tfggllgeat egrisaiesl fgasltgiay slfagqplti
      661 lgstgpvlvf ekilykfcrd yqlsylslrt siglwtsflc ivlvatdass lvcyitrfte
      721 eafaalicii fiyealeklf dlgetyafnm hnnldkltsy scvcteppnp snetlaqwkk
      781 dnitahnisw rnltvseckk lrgvflgsac ghhgpyipdv lfwcvilfft tfflssflkq
      841 fktkryfptk vrstisdfav fltivimvti dylvgvpspk lhvpekfept hpergwiisp
      901 lgdnpwwtll iaaipallct ilifmdqqit aviinrkehk lkkgagyhld llmvgvmlgv
      961 csvmglpwfv aatvlsishv nslkvesecs apgeqpkflg ireqrvtglm ifilmglsvf
     1021 mtsvlkfipm pvlygvflym gvsslkgiql fdriklfgmp akhqpdliyl ryvplwkvhi
     1081 ftviqltclv llwvikvsaa avvfpmmvla lvfvrklmdl cftkrelswl ddlmpeskkk
     1141 keddkkkkek eeaermlqdd ddtvhlpfeg gsllqipvka lkyspdkpvs vkisfedepr
     1201 kkyvdaetsl
//
LOCUS       NP_001010969             519 aa            linear   PRI 10-SEP-2020
DEFINITION  cytochrome P450 4A22 isoform 1 [Homo sapiens].
ACCESSION   NP_001010969 XP_208213
VERSION     NP_001010969.2
DBSOURCE    REFSEQ: accession NM_001010969.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 519)
  AUTHORS   Durairaj P, Fan L, Machalz D, Wolber G and Bureik M.
  TITLE     Functional characterization and mechanistic modeling of the human
            cytochrome P450 enzyme CYP4A22
  JOURNAL   FEBS Lett. 593 (16), 2214-2225 (2019)
   PUBMED   31199497
  REMARK    GeneRIF: Study demonstrate that the CYP4A22 gene codes for an
            active enzyme. It catalyzes the hydroxylation of both lauric and
            myristic acids. The structural model of CYP4A22 and substrate
            docking experiments suggest that its broadened spectrum of
            catalyzed reactions results from increased residual mobility of
            active site residue Phe320 and that arginines Arg96 and Arg233 are
            essential for substrate recognition.
REFERENCE   2  (residues 1 to 519)
  AUTHORS   Goldstein JI, Jarskog LF, Hilliard C, Alfirevic A, Duncan L,
            Fourches D, Huang H, Lek M, Neale BM, Ripke S, Shianna K,
            Szatkiewicz JP, Tropsha A, van den Oord EJ, Cascorbi I, Dettling M,
            Gazit E, Goff DC, Holden AL, Kelly DL, Malhotra AK, Nielsen J,
            Pirmohamed M, Rujescu D, Werge T, Levy DL, Josiassen RC, Kennedy
            JL, Lieberman JA, Daly MJ and Sullivan PF.
  TITLE     Clozapine-induced agranulocytosis is associated with rare HLA-DQB1
            and HLA-B alleles
  JOURNAL   Nat Commun 5, 4757 (2014)
   PUBMED   25187353
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 519)
  AUTHORS   Lino Cardenas CL, Renault N, Farce A, Cauffiez C, Allorge D,
            Lo-Guidice JM, Lhermitte M, Chavatte P, Broly F and Chevalier D.
  TITLE     Genetic polymorphism of CYP4A11 and CYP4A22 genes and in silico
            insights from comparative 3D modelling in a French population
  JOURNAL   Gene 487 (1), 10-20 (2011)
   PUBMED   21820496
  REMARK    GeneRIF: Data suggest that results could be helpful for further
            investigations of the potential role of CYP4A variants in the
            genetic susceptibility to cardiovascular diseases such as arterial
            hypertension.
REFERENCE   4  (residues 1 to 519)
  AUTHORS   Gajendrarao P, Krishnamoorthy N, Sakkiah S, Lazar P and Lee KW.
  TITLE     Molecular modeling study on orphan human protein CYP4A22 for
            identification of potential ligand binding site
  JOURNAL   J. Mol. Graph. Model. 28 (6), 524-532 (2010)
   PUBMED   20079672
  REMARK    GeneRIF: A homology model has been constructed for CYP4A22 and
            refined by molecular dynamics simulation.
REFERENCE   5  (residues 1 to 519)
  AUTHORS   Hiratsuka M, Nozawa H, Katsumoto Y, Moteki T, Sasaki T, Konno Y and
            Mizugaki M.
  TITLE     Genetic polymorphisms and haplotype structures of the CYP4A22 gene
            in a Japanese population
  JOURNAL   Mutat. Res. 599 (1-2), 98-104 (2006)
   PUBMED   16806293
REFERENCE   6  (residues 1 to 519)
  AUTHORS   Gainer JV, Bellamine A, Dawson EP, Womble KE, Grant SW, Wang Y,
            Cupples LA, Guo CY, Demissie S, O'Donnell CJ, Brown NJ, Waterman MR
            and Capdevila JH.
  TITLE     Functional variant of CYP4A11 20-hydroxyeicosatetraenoic acid
            synthase is associated with essential hypertension
  JOURNAL   Circulation 111 (1), 63-69 (2005)
   PUBMED   15611369
REFERENCE   7  (residues 1 to 519)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert
            DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   8  (residues 1 to 519)
  AUTHORS   Bellamine A, Wang Y, Waterman MR, Gainer JV 3rd, Dawson EP, Brown
            NJ and Capdevila JH.
  TITLE     Characterization of the CYP4A11 gene, a second CYP4A gene in humans
  JOURNAL   Arch. Biochem. Biophys. 409 (1), 221-227 (2003)
   PUBMED   12464262
  REMARK    Erratum:[Arch Biochem Biophys. 2003 Apr 1;412(1):153]
REFERENCE   9  (residues 1 to 519)
  AUTHORS   Kawashima H, Naganuma T, Kusunose E, Kono T, Yasumoto R, Sugimura K
            and Kishimoto T.
  TITLE     Human fatty acid omega-hydroxylase, CYP4A11: determination of
            complete genomic sequence and characterization of purified
            recombinant protein
  JOURNAL   Arch. Biochem. Biophys. 378 (2), 333-339 (2000)
   PUBMED   10860550
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC148248.1 and AL135960.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 28, 2005 this sequence version replaced NP_001010969.1.
            
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This gene is part of a cluster of cytochrome P450 genes on
            chromosome 1p33. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Apr 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY280371.1, BC148248.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145122
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371891.8/ ENSP00000360958.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..519
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p33"
     Protein         1..519
                     /product="cytochrome P450 4A22 isoform 1"
                     /EC_number="1.14.14.80"
                     /note="CYPIVA22; cytochrome P450, family 4, subfamily A,
                     polypeptide 22; cytochrome P450 4A22K; fatty acid
                     omega-hydroxylase; lauric acid omega-hydroxylase;
                     long-chain fatty acid omega-monooxygenase"
                     /calculated_mol_wt=59115
     Region          72..505
                     /region_name="CYP4B-like"
                     /note="cytochrome P450 family 4, subfamily B and similar
                     cytochrome P450s, including subfamilies A, T, X, and Z;
                     cd20678"
                     /db_xref="CDD:410771"
     Site            order(115,120,131..132,139,143,150,318,321..322,325,
                     385..386,389,449..451,455..459,462..463,467)
                     /site_type="other"
                     /note="heme binding site [chemical binding]"
                     /db_xref="CDD:410771"
     Site            order(132,320..321,325,386,388,390,495)
                     /site_type="other"
                     /note="chemical substrate binding pocket [chemical
                     binding]"
                     /db_xref="CDD:410771"
     CDS             1..519
                     /gene="CYP4A22"
                     /coded_by="NM_001010969.4:46..1605"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS30707.1"
                     /db_xref="GeneID:284541"
                     /db_xref="HGNC:HGNC:20575"
                     /db_xref="MIM:615341"
ORIGIN      
        1 msvsvlspsr rlggvsgilq vtsllillll likaaqlylh rqwllkalqq fpcppshwlf
       61 ghiqefqhdq elqriqervk tfpsacpywi wggkvrvqly dpdymkvilg rsdpkshgsy
      121 kflaprigyg llllngqtwf qhrrmltpaf hndilkpyvg lmadsvrvml dkweellgqd
      181 splevfqhvs lmtldtimks afshqgsiqv drnsqsyiqa isdlnslvfc cmrnafhend
      241 tiysltsagr wthracqlah qhtdqviqlr kaqlqkegel ekikrkrhld fldilllakm
      301 engsilsdkd lraevdtfmf eghdttasgi swilyalath pkhqercree ihgllgdgas
      361 itwnhldqmp yttmcikeal rlyppvpgig relstpvtfp dgrslpkgim vllsiyglhh
      421 npkvwpnlev fdpsrfapgs aqhshaflpf sggsrncigk qfamnqlkva raltllrfel
      481 lpdptripip marlvlkskn gihlrlrrlp npcedkdql
//
LOCUS       NP_001287764             126 aa            linear   PRI 13-DEC-2020
DEFINITION  transmembrane protein C1orf162 isoform 3 [Homo sapiens].
ACCESSION   NP_001287764 XP_005270533
VERSION     NP_001287764.1
DBSOURCE    REFSEQ: accession NM_001300835.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 126)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AA333542.1, HX785231.1 and CA439311.1.
            On Jul 15, 2014 this sequence version replaced XP_005270533.1.
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            exon, compared to variant 1. The encoded isoform (3) is shorter
            than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HX788713.1, HX785231.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..126
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     Protein         1..126
                     /product="transmembrane protein C1orf162 isoform 3"
                     /note="transmembrane protein C1orf162"
                     /calculated_mol_wt=13677
     CDS             1..126
                     /gene="C1orf162"
                     /coded_by="NM_001300835.2:51..431"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:128346"
                     /db_xref="HGNC:HGNC:28344"
ORIGIN      
        1 mtaweamaph vnptlkdkal spqqpqqlal hpvsltttnr rerlpispgp llrwvpllsg
       61 tmadhskpqa pdphsdppak lssipgeslt yasttfklse eksnhlaenh sadfdpivya
      121 qikvtn
//
LOCUS       NP_001157888             148 aa            linear   PRI 29-OCT-2022
DEFINITION  histone H2B type F-M [Homo sapiens].
ACCESSION   NP_001157888
VERSION     NP_001157888.2
DBSOURCE    REFSEQ: accession NM_001164416.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 148)
  AUTHORS   Molaro A and Drinnenberg IA.
  TITLE     Studying the Evolution of Histone Variants Using Phylogeny
  JOURNAL   Methods Mol Biol 1832, 273-291 (2018)
   PUBMED   30073533
REFERENCE   2  (residues 1 to 148)
  AUTHORS   El Kennani S, Adrait A, Shaytan AK, Khochbin S, Bruley C, Panchenko
            AR, Landsman D, Pflieger D and Govin J.
  TITLE     MS_HistoneDB, a manually curated resource for proteomic analysis of
            human and mouse histones
  JOURNAL   Epigenetics Chromatin 10, 2 (2017)
   PUBMED   28096900
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 148)
  AUTHORS   Talbert PB, Ahmad K, Almouzni G, Ausio J, Berger F, Bhalla PL,
            Bonner WM, Cande WZ, Chadwick BP, Chan SW, Cross GA, Cui L,
            Dimitrov SI, Doenecke D, Eirin-Lopez JM, Gorovsky MA, Hake SB,
            Hamkalo BA, Holec S, Jacobsen SE, Kamieniarz K, Khochbin S,
            Ladurner AG, Landsman D, Latham JA, Loppin B, Malik HS, Marzluff
            WF, Pehrson JR, Postberg J, Schneider R, Singh MB, Smith MM,
            Thompson E, Torres-Padilla ME, Tremethick DJ, Turner BM, Waterborg
            JH, Wollmann H, Yelagandula R, Zhu B and Henikoff S.
  TITLE     A unified phylogeny-based nomenclature for histone variants
  JOURNAL   Epigenetics Chromatin 5, 7 (2012)
   PUBMED   22650316
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 148)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D,
            Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL,
            Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles
            ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman
            R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P,
            Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E,
            Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA,
            Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A,
            Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM,
            Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N,
            Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford
            EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J,
            Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E,
            Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke
            G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V,
            Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis
            C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H,
            Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ,
            Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL,
            Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert
            J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock
            R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD,
            Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M,
            Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob
            L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S,
            Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A,
            Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L,
            Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD,
            Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall
            J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G,
            Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N,
            Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R,
            Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM,
            Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S,
            Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C,
            Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC,
            Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor
            PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K,
            Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana
            D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A,
            Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G,
            Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL,
            Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D,
            Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ,
            Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M,
            Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T,
            Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC234782.5.
            On Nov 5, 2020 this sequence version replaced NP_001157888.1.
            
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. Two molecules of each of the four core histones (H2A,
            H2B, H3, and H4) form an octamer, around which approximately 146 bp
            of DNA is wrapped in repeating units, called nucleosomes. The
            linker histone, H1, interacts with linker DNA between nucleosomes
            and functions in the compaction of chromatin into higher order
            structures. This gene encodes a replication-independent histone
            that is a member of the H2B histone family. [provided by RefSeq,
            Nov 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK093522.1, DB041370.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            replication-independent histone  :: PMID: 22650316
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..148
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.2"
     Protein         1..148
                     /product="histone H2B type F-M"
                     /note="H2B/s; histone H2B.s; H2B histone family member M;
                     H2B.M histone"
                     /calculated_mol_wt=16368
     Region          <52..139
                     /region_name="H2B"
                     /note="Histone H2B; cl23830"
                     /db_xref="CDD:355063"
     CDS             1..148
                     /gene="H2BW2"
                     /gene_synonym="H2BFM; H2BM"
                     /coded_by="NM_001164416.4:40..486"
                     /db_xref="CCDS:CCDS55468.2"
                     /db_xref="GeneID:286436"
                     /db_xref="HGNC:HGNC:27867"
ORIGIN      
        1 maeassetts eegqsiqepk eanstkaqkq krrgcrgsrr rhanrrgdsf gdsftpyfpr
       61 vlkqvhqgls lsqeavsvmd smihdildri ateagqlahy tkrvtitsrd iqmavrlllp
      121 gkmgklaeaq gtnaalrtsl caiwqqrk
//
LOCUS       NP_001265420             121 aa            linear   PRI 17-DEC-2022
DEFINITION  anaphase-promoting complex subunit 15 isoform b [Homo sapiens].
ACCESSION   NP_001265420
VERSION     NP_001265420.1
DBSOURCE    REFSEQ: accession NM_001278491.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 121)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 121)
  AUTHORS   Li Q, Chang L, Aibara S, Yang J, Zhang Z and Barford D.
  TITLE     WD40 domain of Apc1 is critical for the coactivator-induced
            allosteric transition that stimulates APC/C catalytic activity
  JOURNAL   Proc Natl Acad Sci U S A 113 (38), 10547-10552 (2016)
   PUBMED   27601667
  REMARK    GeneRIF: cryo-EM structure of an APC/C-Cdh1 complex with Apc1(WD40)
            deleted showed that the mutant APC/C is locked into an inactive
            conformation in which the UbcH10-binding site of the catalytic
            module is inaccessible. Additionally, an EM density for Apc15 is
            not visible
REFERENCE   3  (residues 1 to 121)
  AUTHORS   Zhang S, Chang L, Alfieri C, Zhang Z, Yang J, Maslen S, Skehel M
            and Barford D.
  TITLE     Molecular mechanism of APC/C activation by mitotic phosphorylation
  JOURNAL   Nature 533 (7602), 260-264 (2016)
   PUBMED   27120157
REFERENCE   4  (residues 1 to 121)
  AUTHORS   Uzunova K, Dye BT, Schutz H, Ladurner R, Petzold G, Toyoda Y,
            Jarvis MA, Brown NG, Poser I, Novatchkova M, Mechtler K, Hyman AA,
            Stark H, Schulman BA and Peters JM.
  TITLE     APC15 mediates CDC20 autoubiquitylation by APC/C(MCC) and
            disassembly of the mitotic checkpoint complex
  JOURNAL   Nat Struct Mol Biol 19 (11), 1116-1123 (2012)
   PUBMED   23007861
  REMARK    GeneRIF: APC15 is required for anaphase-promoting
            complex/cyclosome-bound mitotic checkpoint complex-dependent CDC20
            autoubiquitylation and degradation and for timely anaphase
            initiation.
REFERENCE   5  (residues 1 to 121)
  AUTHORS   Mansfeld J, Collin P, Collins MO, Choudhary JS and Pines J.
  TITLE     APC15 drives the turnover of MCC-CDC20 to make the spindle assembly
            checkpoint responsive to kinetochore attachment
  JOURNAL   Nat Cell Biol 13 (10), 1234-1243 (2011)
   PUBMED   21926987
  REMARK    GeneRIF: Anaphase promoting complex subunit 15(APC15) mediates the
            constant turnover of CDC20 and mitotic checkpoint protein
            complexes, allowing the spindle checkpoint assembly to respond to
            the attachment state of kinetochores.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 121)
  AUTHORS   Castro A, Bernis C, Vigneron S, Labbe JC and Lorca T.
  TITLE     The anaphase-promoting complex: a key factor in the regulation of
            cell cycle
  JOURNAL   Oncogene 24 (3), 314-325 (2005)
   PUBMED   15678131
  REMARK    Review article
REFERENCE   7  (residues 1 to 121)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BE616852.1, AP000812.4 and AF077206.1.
            
            Transcript Variant: This variant (8) differs in the 5' UTR and uses
            an alternate in-frame splice junction at the 5' end of the last
            exon compared to variant 1. The resulting isoform (b) has the same
            N- and C-termini but is shorter compared to isoform a. Variants
            3-11 and 32-44 all encode the same isoform (b).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BE616852.1, SRR1163658.372876.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..121
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..121
                     /product="anaphase-promoting complex subunit 15 isoform b"
                     /calculated_mol_wt=14150
     Region          2..>61
                     /region_name="ANAPC15"
                     /note="Anaphase-promoting complex subunit 15; pfam15243"
                     /db_xref="CDD:434565"
     Region          46..121
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P60006.1)"
     CDS             1..121
                     /gene="ANAPC15"
                     /gene_synonym="APC15; C11orf51; HSPC020"
                     /coded_by="NM_001278491.1:121..486"
                     /note="isoform b is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS8210.1"
                     /db_xref="GeneID:25906"
                     /db_xref="HGNC:HGNC:24531"
                     /db_xref="MIM:614717"
ORIGIN      
        1 mstlfpslfp rvtetlwfnl drpcveetel qqqeqqhqaw lqsiaekdnn lvpigkpase
       61 hyddeeeedd eddedseeds eddedmqdmd emndynespd dgevnevdme gneqdqdqwm
      121 i
//
LOCUS       NP_060627                520 aa            linear   PRI 18-DEC-2022
DEFINITION  synembryn-B isoform 4 [Homo sapiens].
ACCESSION   NP_060627
VERSION     NP_060627.2
DBSOURCE    REFSEQ: accession NM_018157.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 520)
  AUTHORS   Maureira A, Sanchez R, Valenzuela N, Torrejon M, Hinrichs MV, Olate
            J and Gutierrez JL.
  TITLE     The CREB Transcription Factor Controls Transcriptional Activity of
            the Human RIC8B Gene
  JOURNAL   J Cell Biochem 117 (8), 1797-1805 (2016)
   PUBMED   26729411
  REMARK    GeneRIF: these data show the existence of functional CREB and C/EBP
            binding sites in the human RIC8B gene promoter, a particular
            distribution of these sites and demonstrate a relevant role of CREB
            in stimulating transcriptional activity of this gene.
REFERENCE   2  (residues 1 to 520)
  AUTHORS   Lopez-Benito S, Lillo C, Hernandez-Hernandez A, Chao MV and Arevalo
            JC.
  TITLE     ARMS/Kidins220 and synembryn-B levels regulate NGF-mediated
            secretion
  JOURNAL   J Cell Sci 129 (9), 1866-1877 (2016)
   PUBMED   26966186
  REMARK    GeneRIF: overexpression of ARMS blocked NGF-mediated secretion,
            without affecting basal secretion, a decrease in ARMS resulted in
            potentiation. Similar effects were observed with synembryn-B, a
            protein that interacts directly with ARMS. Downstream of ARMS and
            synembryn-B are Galphaq and Trio proteins, which modulate the
            activity of Rac1 in response to NGF
REFERENCE   3  (residues 1 to 520)
  AUTHORS   Jones RM, Cadby G, Melton PE, Abraham LJ, Whitehouse AJ and Moses
            EK.
  TITLE     Genome-wide association study of autistic-like traits in a general
            population study of young adults
  JOURNAL   Front Hum Neurosci 7, 658 (2013)
   PUBMED   24133439
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 520)
  AUTHORS   Nagai Y, Nishimura A, Tago K, Mizuno N and Itoh H.
  TITLE     Ric-8B stabilizes the alpha subunit of stimulatory G protein by
            inhibiting its ubiquitination
  JOURNAL   J Biol Chem 285 (15), 11114-11120 (2010)
   PUBMED   20133939
  REMARK    GeneRIF: Ric-8B plays a critical and specific role in the control
            of G alpha(s) protein levels by modulating G alpha(s)
            ubiquitination and positively regulates G(s) signaling
REFERENCE   5  (residues 1 to 520)
  AUTHORS   Klattenhoff C, Montecino M, Soto X, Guzman L, Romo X, Garcia MA,
            Mellstrom B, Naranjo JR, Hinrichs MV and Olate J.
  TITLE     Human brain synembryn interacts with Gsalpha and Gqalpha and is
            translocated to the plasma membrane in response to isoproterenol
            and carbachol
  JOURNAL   J Cell Physiol 195 (2), 151-157 (2003)
   PUBMED   12652642
  REMARK    GeneRIF: We identified a protein member of the synembryn family as
            one of the interacting proteins in human brain. Gqalpha also
            interacts with synembryn. Synembryn translocates to the plasma
            membrane in response to carbachol and isoproterenol.
REFERENCE   6  (residues 1 to 520)
  AUTHORS   Tall GG, Krumins AM and Gilman AG.
  TITLE     Mammalian Ric-8A (synembryn) is a heterotrimeric Galpha protein
            guanine nucleotide exchange factor
  JOURNAL   J Biol Chem 278 (10), 8356-8362 (2003)
   PUBMED   12509430
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA014333.1, DA534432.1, DA118965.1, CB215722.1, AC007695.12 and
            BX105894.1.
            On May 12, 2006 this sequence version replaced NP_060627.1.
            
            Transcript Variant: This variant (4) lacks an alternate in-frame
            exon in the 3' coding region, compared to variant 1. The encoded
            isoform (4) shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.162622.1,
                                           SRR1660805.64992.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..520
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.3"
     Protein         1..520
                     /product="synembryn-B isoform 4"
                     /note="brain synembryn; synembryn-B; brain synembrin;
                     resistance to inhibitors of cholinesterase 8 homolog B"
                     /calculated_mol_wt=58694
     Region          66..483
                     /region_name="Ric8"
                     /note="Guanine nucleotide exchange factor synembryn;
                     pfam10165"
                     /db_xref="CDD:431103"
     Region          468..494
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NVN3.2)"
     Site            468
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9NVN3.2)"
     Site            473
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9NVN3.2)"
     CDS             1..520
                     /gene="RIC8B"
                     /gene_synonym="hSyn; RIC8"
                     /coded_by="NM_018157.4:65..1627"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS9109.2"
                     /db_xref="GeneID:55188"
                     /db_xref="HGNC:HGNC:25555"
                     /db_xref="MIM:609147"
ORIGIN      
        1 mdeeralyiv rageagaier vlrdysdkhr atfkfestde dkrkklcegi fkvlikdipt
       61 tcqvsclevl rilsrdkkvl vpvttkenmq illrlaklne lddslekvse fpviveslkc
      121 lcnivfnsqm aqqlslelnl aaklcnllrk ckdrkfindi kcfdlrllfl lsllhtdirs
      181 qlryelqglp lltqilesaf sikwtdeyes aidhngppls pqetdcaiea lkalfnvtvd
      241 swkvhkesds hqfrvmaavl rhcllivgpt edkteelhsn avnllsnvpv scldvlicpl
      301 theetaqeat tldelpsnkt aeketvlknn tmvyngmnme aihvllnfme kridkgssyr
      361 egltpvlsll tecsrahrni rkflkdqvlp plrdvtnrpe vgstvrnklv rlmthvdlgv
      421 kqiaaeflfv lckervdsll kytgygnaag llaargllag grgdnwysed edtdteeykn
      481 akpkeellkp mglkpdgtit pleealnqys vieetssdtd
//
LOCUS       NP_001138599             301 aa            linear   PRI 18-DEC-2022
DEFINITION  envoplakin-like protein [Homo sapiens].
ACCESSION   NP_001138599
VERSION     NP_001138599.1
DBSOURCE    REFSEQ: accession NM_001145127.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 301)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC036791.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC036791.1, AK298286.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142586, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000399134.5/ ENSP00000382086.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..301
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     Protein         1..301
                     /product="envoplakin-like protein"
                     /calculated_mol_wt=33822
     Region          18..41
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MZ36.1)"
     Region          118..166
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MZ36.1)"
     Region          194..285
                     /region_name="SPEC"
                     /note="Spectrin repeats; smart00150"
                     /db_xref="CDD:197544"
     Site            287..292
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     CDS             1..301
                     /gene="EVPLL"
                     /coded_by="NM_001145127.2:243..1148"
                     /db_xref="CCDS:CCDS45626.1"
                     /db_xref="GeneID:645027"
                     /db_xref="HGNC:HGNC:35236"
ORIGIN      
        1 mqasadqver diletqkrlq qdrlnseqsq alqhqqetgs slkeaevllk dlfldvdkar
       61 rlkhpqaeet ekdieqlher vtqecaeyca lyekmvlppr rgiqgrlgtr agaeteaglr
      121 rpvwaghgga ggtdrgaqhr aegdqrprra aaepggagcr hhpepiprpt eggvvaraep
      181 gqpvhalqgc twqlsalaeq qrrilqqdws dlmadpagvr reyehfkqhe llsqeqsvnq
      241 leedgkrmve lrhpavgpiq ahqealkmew qnflnlcicq etqlqhvedy srilcpsssp
      301 h
//
LOCUS       NP_001373953             901 aa            linear   PRI 22-DEC-2022
DEFINITION  protein Aster-B isoform 10 [Homo sapiens].
ACCESSION   NP_001373953
VERSION     NP_001373953.1
DBSOURCE    REFSEQ: accession NM_001387024.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 901)
  AUTHORS   Bandara S, Ramkumar S, Imanishi S, Thomas LD, Sawant OB, Imanishi Y
            and von Lintig J.
  TITLE     Aster proteins mediate carotenoid transport in mammalian cells
  JOURNAL   Proc Natl Acad Sci U S A 119 (15), e2200068119 (2022)
   PUBMED   35394870
  REMARK    GeneRIF: Aster proteins mediate carotenoid transport in mammalian
            cells.
REFERENCE   2  (residues 1 to 901)
  AUTHORS   Ercan B, Naito T, Koh DHZ, Dharmawan D and Saheki Y.
  TITLE     Molecular basis of accessible plasma membrane cholesterol
            recognition by the GRAM domain of GRAMD1b
  JOURNAL   EMBO J 40 (6), e106524 (2021)
   PUBMED   33604931
  REMARK    GeneRIF: Molecular basis of accessible plasma membrane cholesterol
            recognition by the GRAM domain of GRAMD1b.
REFERENCE   3  (residues 1 to 901)
  AUTHORS   Andersen JP, Zhang J, Sun H, Liu X, Liu J, Nie J and Shi Y.
  TITLE     Aster-B coordinates with Arf1 to regulate mitochondrial cholesterol
            transport
  JOURNAL   Mol Metab 42, 101055 (2020)
   PUBMED   32738348
  REMARK    GeneRIF: Aster-B coordinates with Arf1 to regulate mitochondrial
            cholesterol transport.
REFERENCE   4  (residues 1 to 901)
  AUTHORS   Dai X, Guo X, Liu J, Cheng A, Peng X, Zha L and Wang Z.
  TITLE     Circular RNA circGRAMD1B inhibits gastric cancer progression by
            sponging miR-130a-3p and regulating PTEN and p21 expression
  JOURNAL   Aging (Albany NY) 11 (21), 9689-9708 (2019)
   PUBMED   31719211
  REMARK    GeneRIF: Circular RNA circGRAMD1B inhibits gastric cancer
            progression by sponging miR-130a-3p and regulating PTEN and p21
            expression.
REFERENCE   5  (residues 1 to 901)
  AUTHORS   Sandhu J, Li S, Fairall L, Pfisterer SG, Gurnett JE, Xiao X, Weston
            TA, Vashi D, Ferrari A, Orozco JL, Hartman CL, Strugatsky D, Lee
            SD, He C, Hong C, Jiang H, Bentolila LA, Gatta AT, Levine TP, Ferng
            A, Lee R, Ford DA, Young SG, Ikonen E, Schwabe JWR and Tontonoz P.
  TITLE     Aster Proteins Facilitate Nonvesicular Plasma Membrane to ER
            Cholesterol Transport in Mammalian Cells
  JOURNAL   Cell 175 (2), 514-529 (2018)
   PUBMED   30220461
REFERENCE   6  (residues 1 to 901)
  AUTHORS   Khanna P, Lee JS, Sereemaspun A, Lee H and Baeg GH.
  TITLE     GRAMD1B regulates cell migration in breast cancer cells through
            JAK/STAT and Akt signaling
  JOURNAL   Sci Rep 8 (1), 9511 (2018)
   PUBMED   29934528
  REMARK    GeneRIF: GRAMD1B regulates cell migration in breast cancer cells
            through JAK/STAT and Akt signaling
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 901)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000783.4, AP000841.4 and AP002765.3.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968540,
                              SAMEA2145245 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..901
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.1"
     Protein         1..901
                     /product="protein Aster-B isoform 10"
                     /note="GRAM domain-containing protein 1B; long intergenic
                     non-protein coding RNA 1059; protein Aster-B"
                     /calculated_mol_wt=103351
     Region          250..343
                     /region_name="PH-GRAM_GRAMDC"
                     /note="GRAM domain-containing protein (GRAMDC) Pleckstrin
                     Homology-Glucosyltransferases, Rab-like GTPase activators
                     and Myotubularins (PH-GRAM) domain; cd13220"
                     /db_xref="CDD:275406"
     Region          518..666
                     /region_name="DUF4782"
                     /note="Domain of unknown function (DUF4782); pfam16016"
                     /db_xref="CDD:435072"
     CDS             1..901
                     /gene="GRAMD1B"
                     /gene_synonym="LINC01059"
                     /coded_by="NM_001387024.1:525..3230"
                     /note="isoform 10 is encoded by transcript variant 10"
                     /db_xref="GeneID:57476"
                     /db_xref="HGNC:HGNC:29214"
                     /db_xref="MIM:620179"
ORIGIN      
        1 mpaanmmenr plpalqvpep qgapegspvw sssstptlrr rrfkmrrmkn vqeqsleagl
       61 ardlpavlap gkeflqlpsi eitpssdedt pwsncstpsa sprrkrfllr kwlrvrerke
      121 csesssqqss qqsshdddss rflspraree stasnsnrst pacspilrkr srsptpqnqd
      181 gdtmvekgsd hssdkspstp eqgvqrscss qsgrsggkns kksqswynvl sptykqrned
      241 frklfkqlpd terlivdysc alqrdillqg rlylsenwic fysnifrwet lltvrlkdic
      301 smtkektarl ipnaiqvctd sekhfftsfg ardrtymmmf rlwqnallek plcpkelwhf
      361 vhqcygnelg ltsddedyvp pdddfntmgy ceeipveene vndssskssi etkpdaspql
      421 pkksitnstl tstgsseapv sfdglpleee alegdgslek elaidnimge kiemiapvns
      481 psldfndned iptelsdssd thdegevqaf yedlsgrqyv nevfnfsvdk lydllftnsp
      541 fqrdfmeqrr fsdiifhpwk keengnqsrv ilytitltnp lapktatvre tqtmykasqe
      601 secyvidaev lthdvpyhdy fytinrytlt rvarnksrlr vstelryrkq pwglvktfie
      661 knfwsgledy frhleselak testylaemh rqspkekask tttvrrrkrp hahlrvphle
      721 evmspvttpt dedvghrikh vagstqtrhi pedtpngfhl qsvsklllvi scvlvllvil
      781 nmmlfyklwm leyttqtlta wqglrlqerg lgaqdsslsi tpaagvplll phrlpqsqte
      841 waqllesqqk yhdtelqkwr eiikssvmll dqmkdslinl qngirsrdyt seseekrnry
      901 h
//
LOCUS       NP_001748                277 aa            linear   PRI 24-DEC-2022
DEFINITION  carbonyl reductase [NADPH] 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001748
VERSION     NP_001748.1
DBSOURCE    REFSEQ: accession NM_001757.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 277)
  AUTHORS   Wang T, Mao P, Zhang Y, Cui B, Wang MD, Li Y and Gao K.
  TITLE     LncRNA MYMLR promotes pituitary adenoma development by upregulating
            carbonyl reductase 1 via sponging miR-197-3p
  JOURNAL   Anticancer Drugs 33 (10), 1058-1068 (2022)
   PUBMED   36206098
  REMARK    GeneRIF: LncRNA MYMLR promotes pituitary adenoma development by
            upregulating carbonyl reductase 1 via sponging miR-197-3p.
REFERENCE   2  (residues 1 to 277)
  AUTHORS   Mao L, Wang K, Zhang P, Ren S, Sun J, Yang M, Zhang F and Sun B.
  TITLE     Carbonyl Reductase 1 Attenuates Ischemic Brain Injury by Reducing
            Oxidative Stress and Neuroinflammation
  JOURNAL   Transl Stroke Res 12 (5), 711-724 (2021)
   PUBMED   33964000
  REMARK    GeneRIF: Carbonyl Reductase 1 Attenuates Ischemic Brain Injury by
            Reducing Oxidative Stress and Neuroinflammation.
REFERENCE   3  (residues 1 to 277)
  AUTHORS   Khazeem MM, Cowell IG, Harkin LF, Casement JW and Austin CA.
  TITLE     Transcription of carbonyl reductase 1 is regulated by DNA
            topoisomerase II beta
  JOURNAL   FEBS Lett 594 (20), 3395-3405 (2020)
   PUBMED   32767399
  REMARK    GeneRIF: Transcription of carbonyl reductase 1 is regulated by DNA
            topoisomerase II beta.
REFERENCE   4  (residues 1 to 277)
  AUTHORS   Barracco V, Moschini R, Renzone G, Cappiello M, Balestri F, Scaloni
            A, Mura U and Del-Corso A.
  TITLE     Dehydrogenase/reductase activity of human carbonyl reductase 1 with
            NADP(H) acting as a prosthetic group
  JOURNAL   Biochem Biophys Res Commun 522 (1), 259-263 (2020)
   PUBMED   31759632
  REMARK    GeneRIF: Dehydrogenase/reductase activity of human carbonyl
            reductase 1 with NADP(H) acting as a prosthetic group.
REFERENCE   5  (residues 1 to 277)
  AUTHORS   Yun M, Choi AJ, Lee YC, Kong M, Sung JY, Kim SS and Eun YG.
  TITLE     Carbonyl reductase 1 is a new target to improve the effect of
            radiotherapy on head and neck squamous cell carcinoma
  JOURNAL   J Exp Clin Cancer Res 37 (1), 264 (2018)
   PUBMED   30376862
  REMARK    GeneRIF: Findings suggest that CBR1 has an important role in DNA
            damage response through regulation of irradiation-mediated ROS
            generation causing to regulation of radiosensitivity, and CBR1
            inhibition with IR might be a potent therapeutic strategy for head
            and neck squamous cell carcinoma treatment.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 277)
  AUTHORS   Wirth H and Wermuth B.
  TITLE     Immunohistochemical localization of carbonyl reductase in human
            tissues
  JOURNAL   J Histochem Cytochem 40 (12), 1857-1863 (1992)
   PUBMED   1453004
REFERENCE   7  (residues 1 to 277)
  AUTHORS   Inazu N, Ruepp B, Wirth H and Wermuth B.
  TITLE     Carbonyl reductase from human testis: purification and comparison
            with carbonyl reductase from human brain and rat testis
  JOURNAL   Biochim Biophys Acta 1116 (1), 50-56 (1992)
   PUBMED   1540623
REFERENCE   8  (residues 1 to 277)
  AUTHORS   Forrest GL, Akman S, Doroshow J, Rivera H and Kaplan WD.
  TITLE     Genomic sequence and expression of a cloned human carbonyl
            reductase gene with daunorubicin reductase activity
  JOURNAL   Mol Pharmacol 40 (4), 502-507 (1991)
   PUBMED   1921984
REFERENCE   9  (residues 1 to 277)
  AUTHORS   Forrest GL, Akman S, Krutzik S, Paxton RJ, Sparkes RS, Doroshow J,
            Felsted RL, Glover CJ, Mohandas T and Bachur NR.
  TITLE     Induction of a human carbonyl reductase gene located on chromosome
            21
  JOURNAL   Biochim Biophys Acta 1048 (2-3), 149-155 (1990)
   PUBMED   2182121
REFERENCE   10 (residues 1 to 277)
  AUTHORS   Wermuth,B., Platts,K.L., Seidel,A. and Oesch,F.
  TITLE     Carbonyl reductase provides the enzymatic basis of quinone
            detoxication in man
  JOURNAL   Biochem Pharmacol 35 (8), 1277-1282 (1986)
   PUBMED   3083821
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB124848.1.
            
            Summary: The protein encoded by this gene belongs to the
            short-chain dehydrogenases/reductases (SDR) family, which function
            as NADPH-dependent oxidoreductases having wide specificity for
            carbonyl compounds, such as quinones, prostaglandins, and various
            xenobiotics. Alternatively spliced transcript variants have been
            found for this gene. [provided by RefSeq, Nov 2013].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB124848.1, J04056.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000290349.11/ ENSP00000290349.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..277
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.12"
     Protein         1..277
                     /product="carbonyl reductase [NADPH] 1 isoform 1"
                     /EC_number="1.1.1.189"
                     /EC_number="1.1.1.197"
                     /EC_number="1.1.1.184"
                     /EC_number="1.1.1.196"
                     /EC_number="1.1.1.71"
                     /note="carbonyl reductase (NADPH) 1; prostaglandin-E(2)
                     9-reductase; prostaglandin 9-ketoreductase; carbonyl
                     reductase [NADPH] 1; 20-beta-hydroxysteroid dehydrogenase;
                     NADPH-dependent carbonyl reductase 1;
                     15-hydroxyprostaglandin dehydrogenase; short chain
                     dehydrogenase/reductase family 21C member 1; epididymis
                     secretory sperm binding protein; alcohol dehydrogenase
                     [NAD(P)+] CBR1"
                     /calculated_mol_wt=30244
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P16152.3)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P47727; propagated from
                     UniProtKB/Swiss-Prot (P16152.3)"
     Region          6..277
                     /region_name="carb_red_PTCR-like_SDR_c"
                     /note="Porcine testicular carbonyl reductase (PTCR)-like,
                     classical (c) SDRs; cd05324"
                     /db_xref="CDD:187585"
     Site            order(12,14..17,38,42,62..64,90..93,113,138..140,194,198,
                     227..231,233..236)
                     /site_type="other"
                     /note="NADP binding site [chemical binding]"
                     /db_xref="CDD:187585"
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48758; propagated from
                     UniProtKB/Swiss-Prot (P16152.3)"
     Site            order(94..95,140..142,145,194,227,229..230,235..236)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:187585"
     Site            order(114,140,194,198)
                     /site_type="active"
                     /db_xref="CDD:187585"
     CDS             1..277
                     /gene="CBR1"
                     /gene_synonym="CBR; hCBR1; PG-9-KR; SDR21C1"
                     /coded_by="NM_001757.4:93..926"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13641.1"
                     /db_xref="GeneID:873"
                     /db_xref="HGNC:HGNC:1548"
                     /db_xref="MIM:114830"
ORIGIN      
        1 mssgihvalv tggnkgigla ivrdlcrlfs gdvvltardv trgqaavqql qaeglsprfh
       61 qldiddlqsi ralrdflrke yggldvlvnn agiafkvadp tpfhiqaevt mktnffgtrd
      121 vctellplik pqgrvvnvss imsvralksc spelqqkfrs etiteeelvg lmnkfvedtk
      181 kgvhqkegwp ssaygvtkig vtvlsrihar klseqrkgdk illnaccpgw vrtdmagpka
      241 tkspeegaet pvylallppd aegphgqfvs ekrveqw
//
LOCUS       NP_001036148            1683 aa            linear   PRI 24-DEC-2022
DEFINITION  E3 ubiquitin-protein ligase SHPRH isoform a [Homo sapiens].
ACCESSION   NP_001036148
VERSION     NP_001036148.2
DBSOURCE    REFSEQ: accession NM_001042683.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1683)
  AUTHORS   Chen W, Zhong M, Yu J, Xie R, Zhou T, Zhang S, Xiong C and Huang D.
  TITLE     KMT2B promotes SHPRH expression to regulate 131I sensitivity in
            thyroid carcinoma cells by affecting FYN protein stability
  JOURNAL   Cell Signal 88, 110165 (2021)
   PUBMED   34606908
  REMARK    GeneRIF: KMT2B promotes SHPRH expression to regulate (131)I
            sensitivity in thyroid carcinoma cells by affecting FYN protein
            stability.
REFERENCE   2  (residues 1 to 1683)
  AUTHORS   Seelinger M, Sogaard CK and Otterlei M.
  TITLE     The Human RAD5 Homologs, HLTF and SHPRH, Have Separate Functions in
            DNA Damage Tolerance Dependent on The DNA Lesion Type
  JOURNAL   Biomolecules 10 (3), 463 (2020)
   PUBMED   32192191
  REMARK    GeneRIF: The Human RAD5 Homologs, HLTF and SHPRH, Have Separate
            Functions in DNA Damage Tolerance Dependent on The DNA Lesion Type.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1683)
  AUTHORS   Seelinger M and Otterlei M.
  TITLE     Helicase-Like Transcription Factor HLTF and E3 Ubiquitin Ligase
            SHPRH Confer DNA Damage Tolerance through Direct Interactions with
            Proliferating Cell Nuclear Antigen (PCNA)
  JOURNAL   Int J Mol Sci 21 (3), 693 (2020)
   PUBMED   31973093
  REMARK    GeneRIF: Helicase-Like Transcription Factor HLTF and E3 Ubiquitin
            Ligase SHPRH Confer DNA Damage Tolerance through Direct
            Interactions with Proliferating Cell Nuclear Antigen (PCNA).
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1683)
  AUTHORS   Su Y, Xu C, Liu Y, Hu Y and Wu H.
  TITLE     Circular RNA hsa_circ_0001649 inhibits hepatocellular carcinoma
            progression via multiple miRNAs sponge
  JOURNAL   Aging (Albany NY) 11 (10), 3362-3375 (2019)
   PUBMED   31137016
  REMARK    GeneRIF: circ-0001649 regulated behaviors of hepatocellular
            carcinoma cells by targeting SHPRH; circ-0001649 served as a ceRNA
            to sponge miR-127-5p, miR-612 and miR-4688, thus activating SHPRH
REFERENCE   5  (residues 1 to 1683)
  AUTHORS   Zhang M, Huang N, Yang X, Luo J, Yan S, Xiao F, Chen W, Gao X, Zhao
            K, Zhou H, Li Z, Ming L, Xie B and Zhang N.
  TITLE     A novel protein encoded by the circular form of the SHPRH gene
            suppresses glioma tumorigenesis
  JOURNAL   Oncogene 37 (13), 1805-1814 (2018)
   PUBMED   29343848
  REMARK    GeneRIF: A novel perspective regarding circRNA function in
            physiological and pathological processes: specifically, SHPRH-146aa
            generated from overlapping genetic codes of circ-SHPRH is a tumor
            suppressor in human glioblastoma.
REFERENCE   6  (residues 1 to 1683)
  AUTHORS   Lin JR, Zeman MK, Chen JY, Yee MC and Cimprich KA.
  TITLE     SHPRH and HLTF act in a damage-specific manner to coordinate
            different forms of postreplication repair and prevent mutagenesis
  JOURNAL   Mol Cell 42 (2), 237-249 (2011)
   PUBMED   21396873
  REMARK    GeneRIF: HLTF and SHPRH suppress mutagenesis in a damage-specific
            manner, preventing mutations induced by UV rays and methyl
            methanesulfonate.
REFERENCE   7  (residues 1 to 1683)
  AUTHORS   Motegi A, Liaw HJ, Lee KY, Roest HP, Maas A, Wu X, Moinova H,
            Markowitz SD, Ding H, Hoeijmakers JH and Myung K.
  TITLE     Polyubiquitination of proliferating cell nuclear antigen by HLTF
            and SHPRH prevents genomic instability from stalled replication
            forks
  JOURNAL   Proc Natl Acad Sci U S A 105 (34), 12411-12416 (2008)
   PUBMED   18719106
  REMARK    GeneRIF: HLTF and SHPRH are functional homologues of yeast Rad5
            that cooperatively mediate PCNA polyubiquitination and maintain
            genomic stability.
REFERENCE   8  (residues 1 to 1683)
  AUTHORS   Motegi A, Sood R, Moinova H, Markowitz SD, Liu PP and Myung K.
  TITLE     Human SHPRH suppresses genomic instability through proliferating
            cell nuclear antigen polyubiquitination
  JOURNAL   J Cell Biol 175 (5), 703-708 (2006)
   PUBMED   17130289
  REMARK    GeneRIF: We report that a putative tumor suppressor gene, SHPRH, is
            a human orthologue of yeast RAD5.The yRad5/SHPRH-dependent pathway
            is a conserved and fundamental DNA repair mechanism that protects
            the genome from genotoxic stress.
REFERENCE   9  (residues 1 to 1683)
  AUTHORS   Unk I, Hajdu I, Fatyol K, Szakal B, Blastyak A, Bermudez V, Hurwitz
            J, Prakash L, Prakash S and Haracska L.
  TITLE     Human SHPRH is a ubiquitin ligase for Mms2-Ubc13-dependent
            polyubiquitylation of proliferating cell nuclear antigen
  JOURNAL   Proc Natl Acad Sci U S A 103 (48), 18107-18112 (2006)
   PUBMED   17108083
  REMARK    GeneRIF: SHPRH function is an important deterrent to mutagenesis
            and carcinogenesis in humans
REFERENCE   10 (residues 1 to 1683)
  AUTHORS   Sood R, Makalowska I, Galdzicki M, Hu P, Eddings E, Robbins CM,
            Moses T, Namkoong J, Chen S and Trent JM.
  TITLE     Cloning and characterization of a novel gene, SHPRH, encoding a
            conserved putative protein with SNF2/helicase and PHD-finger
            domains from the 6q24 region
  JOURNAL   Genomics 82 (2), 153-161 (2003)
   PUBMED   12837266
  REMARK    GeneRIF: SHPRH maps to 6q24 and is a possible candidate for the
            tumor suppressor gene reported from that region.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL451145.15, AY163808.1, AY161136.1, BC117686.1, AK126959.1,
            AA315737.1 and BX648322.1.
            On Feb 24, 2010 this sequence version replaced NP_001036148.1.
            
            Summary: SHPRH is a ubiquitously expressed protein that contains
            motifs characteristics of several DNA repair proteins,
            transcription factors, and helicases. SHPRH is a functional homolog
            of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed
            17108083]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC117686.1, AY161136.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000275233.12/ ENSP00000275233.7
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1683
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.3"
     Protein         1..1683
                     /product="E3 ubiquitin-protein ligase SHPRH isoform a"
                     /EC_number="2.3.2.27"
                     /note="2610103K11Rik; E3 ubiquitin-protein ligase SHPRH;
                     SNF2, histone-linker, PHD and RING finger
                     domain-containing helicase; SNF2 histone linker PHD RING
                     helicase, E3 ubiquitin protein ligase; RING-type E3
                     ubiquitin transferase SHPRH"
                     /calculated_mol_wt=192949
     Region          1..43
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149N8.2)"
     Region          24..>389
                     /region_name="HepA"
                     /note="Superfamily II DNA or RNA helicase, SNF2 family
                     [Transcription, Replication, recombination and repair];
                     COG0553"
                     /db_xref="CDD:223627"
     Site            266
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q149N8.2)"
     Region          304..>409
                     /region_name="DEAD-like_helicase_N"
                     /note="N-terminal helicase domain of the DEAD-box helicase
                     superfamily; cl28899"
                     /db_xref="CDD:452890"
     Site            375..381
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:350670"
     Region          440..508
                     /region_name="Linker_histone"
                     /note="linker histone H1 and H5 family; pfam00538"
                     /db_xref="CDD:425740"
     Site            order(443,455,486,500)
                     /site_type="DNA binding"
                     /note="DNA-binding site [nucleotide binding]"
                     /db_xref="CDD:238028"
     Site            481..492
                     /site_type="DNA binding"
                     /note="DNA-binding site [nucleotide binding]"
                     /db_xref="CDD:238028"
     Region          525..607
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149N8.2)"
     Site            635
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7TPQ3; propagated from
                     UniProtKB/Swiss-Prot (Q149N8.2)"
     Region          660..706
                     /region_name="PHD_SHPRH"
                     /note="PHD finger found in E3 ubiquitin-protein ligase
                     SHPRH; cd15547"
                     /db_xref="CDD:277022"
     Site            order(660,673..677,681,701)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277022"
     Region          <702..903
                     /region_name="DEXQc_SHPRH"
                     /note="DEXQ-box helicase domain of SHPRH; cd18070"
                     /db_xref="CDD:350828"
     Region          819..822
                     /region_name="DEAQ box"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149N8.2)"
     Region          1429..1482
                     /region_name="RING-HC_SHPRH-like"
                     /note="RING finger, HC subclass, found in SNF2
                     histone-linker PHD finger RING finger helicase (SHPRH) and
                     similar proteins; cd16569"
                     /db_xref="CDD:438231"
     Region          1508..1633
                     /region_name="SF2_C_SNF"
                     /note="C-terminal helicase domain of the SNF family
                     helicases; cd18793"
                     /db_xref="CDD:350180"
     Site            order(1537..1538,1546,1585,1606..1607)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:350180"
     Site            order(1591..1592,1594,1617,1620)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350180"
     CDS             1..1683
                     /gene="SHPRH"
                     /gene_synonym="bA545I5.2; RAD5"
                     /coded_by="NM_001042683.3:661..5712"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS43513.2"
                     /db_xref="GeneID:257218"
                     /db_xref="HGNC:HGNC:19336"
                     /db_xref="MIM:608048"
ORIGIN      
        1 mssrrkrapp vrvdeekrqq lhwnmhedrr nepiiisddd eqpcpgsdts sahyiilsds
       61 lkeevahrdk krcskvvsfs kpiekeetvg ifsplsvkln ivispyhfdn swkaflgelt
      121 lqllpaqsli enfsersitl mssessnqfl iyvhskgedv ekqkkepmsi cdkgilvess
      181 fsgemledlg wlqkkrrikl yqkpegnhii kvgiylleag lakldflsda nsrmkkfnql
      241 mkkvmeklhn siipdvleed eddpesepeg qdidelyhfv kqthqqetqs iqvdvqhpal
      301 ipvlrpyqre avnwmlqqec frsspatesa lhflwreivt seglklyynp ytgciireyp
      361 nsgpqllggi lademglgkt vevlalilth trqdvkqdal tlpegkvvny fipshyfggk
      421 lkkteiqnie fepkekvqcp ptrvmiltav kemngkkgvs ilsiykyvss iyrydvqrnr
      481 sllkrmlkcl ifeglvkqik ghgfsgtftl gknykeedic dktkkqavgs prkiqketrk
      541 sgnkdtdsey lpsdtsdddd dpyyyyyksr rnrsklrkkl vpstkkgksq pfinpdsqgh
      601 cpatsdsgit dvamskstci sefnqehete dcaeslnhad sdvppsntms pfntsdyrfe
      661 cicgeldqid rkprvqclkc hlwqhakcvn ydeknlkikp fycphclvam epvstratli
      721 ispssichqw vdeinrhvrs sslrvlvyqg vkkdgflqph flaeqdivii tydvlrseln
      781 yvdiphsnse dgrrlrnqkr ymaipsplva vewwriclde aqmvecptvk aaemaqrlsg
      841 inrwcisgtp vqrgledlfg lvvflgiepy cvkhwwvrll yrpyckknpq hlysfiakil
      901 wrsakkdvid qiqippqtee ihwlhfspve rhfyhrqhev ccqdvvvklr kisdwalkls
      961 sldrrtvtsi lypllrlrqa cchpqavrge flplqkstmt meelltslqk kcgteceeah
     1021 rqlvcalngl agihiikgey alaaelyrev lrsseehkgk lktdslqrlh athnlmelli
     1081 arhpgipptl rdgrleeeak qlrehymskc ntevaeaqqa lypvqqtihe lqrkihsnsp
     1141 wwlnvihrai eftideelvq rvrneitsny kqqtgklsms ekfrdcrglq fllttqmeel
     1201 nkcqklvrea vknlegppsr nviesatvch lrparlplnc cvfckadelf teyesklfsn
     1261 tvkgqtaife emiedeeglv ddraptttrg lwaiseters mkailsfaks hrfdvefvde
     1321 gstsmdlfea wkkeykllhe ywmalrnrvs avdelamate rlrvrdprep kpnppvlhii
     1381 epheveqnri kllndkavat sqlqkklgql lyltnleksq dktsggvnpe pcpicarqlg
     1441 kqwavltcgh cfcnecisii ieqysvgshr ssikcaicrq ttshkeisyv ftsekanqee
     1501 dipvkgshst kveavvrtlm kiqlrdpgak alvfstwqdv ldiiskaltd nnmefaqisr
     1561 vktfqenlsa fkrdpqinil llplhtgsng ltiieathvl lvepilnpah elqaigrvhr
     1621 igqtkptivh rflikatiee rmqamlktae rshtnssakh seasvltvad ladlftkete
     1681 ele
//
LOCUS       NP_001350338             477 aa            linear   PRI 25-DEC-2022
DEFINITION  limb region 1 protein homolog isoform g [Homo sapiens].
ACCESSION   NP_001350338 XP_016867998
VERSION     NP_001350338.1
DBSOURCE    REFSEQ: accession NM_001363409.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 477)
  AUTHORS   Potuijt JWP, Hoogeboom J, de Graaff E, van Nieuwenhoven CA and
            Galjaard RJH.
  TITLE     Variable expression of subclinical phenotypes instead of reduced
            penetrance in families with mild triphalangeal thumb phenotypes
  JOURNAL   J Med Genet 57 (10), 660-663 (2020)
   PUBMED   32179704
  REMARK    GeneRIF: Variable expression of subclinical phenotypes instead of
            reduced penetrance in families with mild triphalangeal thumb
            phenotypes.
REFERENCE   2  (residues 1 to 477)
  AUTHORS   Xu J, Wu J, Teng X, Cai L, Yuan H, Chen X, Hu M, Wang X, Jiang N
            and Chen H.
  TITLE     Large duplication in LMBR1 gene in a large Chinese pedigree with
            triphalangeal thumb polysyndactyly syndrome
  JOURNAL   Am J Med Genet A 182 (9), 2117-2123 (2020)
   PUBMED   32662247
  REMARK    GeneRIF: Large duplication in LMBR1 gene in a large Chinese
            pedigree with triphalangeal thumb polysyndactyly syndrome.
REFERENCE   3  (residues 1 to 477)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 477)
  AUTHORS   Xu C, Yang X, Zhou H, Li Y, Xing C, Zhou T, Zhong D, Lian C, Yan M,
            Chen T, Liao Z, Gao B, Su D, Wang T, Sharma S, Mohan C, Ahituv N,
            Malik S, Li QZ and Su P.
  TITLE     A novel ZRS variant causes preaxial polydactyly type I by increased
            sonic hedgehog expression in the developing limb bud
  JOURNAL   Genet Med 22 (1), 189-198 (2020)
   PUBMED   31395945
  REMARK    GeneRIF: Results identify a novel g.101779T>A variant segregating
            with all individuals affected with preaxial polydactyly type
            1(PPDI).
REFERENCE   5  (residues 1 to 477)
  AUTHORS   Shamseldin HE, Anazi S, Wakil SM, Faqeih E, El Khashab HY, Salih
            MA, Al-Qattan MM, Hashem M, Alsedairy H and Alkuraya FS.
  TITLE     Novel copy number variants and major limb reduction malformation:
            Report of three cases
  JOURNAL   Am J Med Genet A 170A (5), 1245-1250 (2016)
   PUBMED   26749485
  REMARK    GeneRIF: These include a patient with hypoplastic phalanges and
            absent hallux bilaterally with de novo deletion of 11.9 Mb on
            7p21.1-22.1 spanning 63 genes including RAC1, another patient with
            severe Holt-Oram syndrome and a large de novo deletion 2.2 Mb on
            12q24.13-24.21 spanning 20 genes including TBX3 and TBX5, and a
            third patient with acheiropodia who had a nullizygous deletion of
            102 kb on 7q36.3 spanning LMBR1
REFERENCE   6  (residues 1 to 477)
  AUTHORS   Dundar M, Gordon TM, Ozyazgan I, Oguzkaya F, Ozkul Y, Cooke A,
            Wilkinson AG, Holloway S, Goodman FR and Tolmie JL.
  TITLE     A novel acropectoral syndrome maps to chromosome 7q36
  JOURNAL   J Med Genet 38 (5), 304-309 (2001)
   PUBMED   11333865
REFERENCE   7  (residues 1 to 477)
  AUTHORS   Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG, Neto
            JC, Silveira EL, Freire-Maia A, Heutink P, Kilpatrick MW and
            Tsipouras P.
  TITLE     Acheiropodia is caused by a genomic deletion in C7orf2, the human
            orthologue of the Lmbr1 gene
  JOURNAL   Am J Hum Genet 68 (1), 38-45 (2001)
   PUBMED   11090342
REFERENCE   8  (residues 1 to 477)
  AUTHORS   Clark RM, Marker PC and Kingsley DM.
  TITLE     A novel candidate gene for mouse and human preaxial polydactyly
            with altered expression in limbs of Hemimelic extra-toes mutant
            mice
  JOURNAL   Genomics 67 (1), 19-27 (2000)
   PUBMED   10945466
REFERENCE   9  (residues 1 to 477)
  AUTHORS   Heus HC, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC,
            Burgess A, Donnis-Keller H, Berglund C, Zguricas J, Scherer SW,
            Rommens JM, Oostra BA and Heutink P.
  TITLE     A physical and transcriptional map of the preaxial polydactyly
            locus on chromosome 7q36
  JOURNAL   Genomics 57 (3), 342-351 (1999)
   PUBMED   10329000
REFERENCE   10 (residues 1 to 477)
  AUTHORS   Hing AV, Helms C, Slaugh R, Burgess A, Wang JC, Herman T, Dowton SB
            and Donis-Keller H.
  TITLE     Linkage of preaxial polydactyly type 2 to 7q36
  JOURNAL   Am J Med Genet 58 (2), 128-135 (1995)
   PUBMED   8533803
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA238712.1, BC017663.1,
            AC007075.3, EB388873.1, AC005534.2 and H18430.1.
            On May 18, 2018 this sequence version replaced XP_016867998.1.
            
            Summary: This gene encodes a member of the LMBR1-like membrane
            protein family. Another member of this protein family has been
            shown to be a lipocalin transmembrane receptor. A highly conserved,
            cis-acting regulatory module for the sonic hedgehog gene is located
            within an intron of this gene. Consequently, disruption of this
            genic region can alter sonic hedgehog expression and affect limb
            patterning, but it is not known if this gene functions directly in
            limb development. Mutations and chromosomal deletions and
            rearrangements in this genic region are associated with acheiropody
            and preaxial polydactyly, which likely result from altered sonic
            hedgehog expression. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.176867.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..477
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.3"
     Protein         1..477
                     /product="limb region 1 protein homolog isoform g"
                     /note="limb region 1 protein homolog;
                     differentiation-related gene 14 protein; limb region 1
                     homolog"
                     /calculated_mol_wt=53082
     Region          23..451
                     /region_name="LMBR1"
                     /note="LMBR1-like membrane protein; pfam04791"
                     /db_xref="CDD:428125"
     CDS             1..477
                     /gene="LMBR1"
                     /gene_synonym="ACHP; C7orf2; DIF14; LSS; PPD2; THYP; TPT;
                     TPTPS; ZRS"
                     /coded_by="NM_001363409.2:191..1624"
                     /note="isoform g is encoded by transcript variant 10"
                     /db_xref="GeneID:64327"
                     /db_xref="HGNC:HGNC:13243"
                     /db_xref="MIM:605522"
ORIGIN      
        1 megqdevsar eqhfhsqvre sticfllfai lyvvsyfiit rykrksdeqe dedaivnris
       61 lflstftlav sagavlllpf siisneills fpqnyyiqwl ngslihglwn laslfsnlcl
      121 fvlmpfafff lesegfaglk kgirarilet lvmllllall ilgivwvasa lidndaasme
      181 slydlwefyl pylyscislm gclllllctp vglsrmftvm gqllvkptil edldeqiyii
      241 tleeealqrr lnvgmlcagn pevatgrqvp eeqagqlllg kwiqeggdmi anprlsssve
      301 ynimeleqel envktlktkl errkkasawe rnlvypavmv lllietsisv llvacnilcl
      361 lvdetampkg trgpgignas lstfgfvgaa leiilifylm vssvvgfysl rffgnftpkk
      421 ddttmtkiig ncvsilvlss alpvmsrtlg lhklhlpnts rdsetakpsv nghqkal
//
LOCUS       NP_001135921             454 aa            linear   PRI 25-DEC-2022
DEFINITION  protein spinster homolog 1 isoform 4 [Homo sapiens].
ACCESSION   NP_001135921
VERSION     NP_001135921.1
DBSOURCE    REFSEQ: accession NM_001142449.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 454)
  AUTHORS   He M, Kuk ACY, Ding M, Chin CF, Galam DLA, Nah JM, Tan BC, Yeo HL,
            Chua GL, Benke PI, Wenk MR, Ho L, Torta F and Silver DL.
  TITLE     Spns1 is a lysophospholipid transporter mediating lysosomal
            phospholipid salvage
  JOURNAL   Proc Natl Acad Sci U S A 119 (40), e2210353119 (2022)
   PUBMED   36161949
  REMARK    GeneRIF: Spns1 is a lysosomal proton-dependent
            lysophosphatidylcholine (LPC) and lysophosphatidylethanolamine
            (LPE) transporter mediating phospholipid salvage pathway
REFERENCE   2  (residues 1 to 454)
  AUTHORS   Fang Z, Cao B, Liao JM, Deng J, Plummer KD, Liao P, Liu T, Zhang W,
            Zhang K, Li L, Margolin D, Zeng SX, Xiong J and Lu H.
  TITLE     SPIN1 promotes tumorigenesis by blocking the uL18 (universal large
            ribosomal subunit protein 18)-MDM2-p53 pathway in human cancer
  JOURNAL   Elife 7, e31275 (2018)
   PUBMED   29547122
  REMARK    GeneRIF: Spindlin 1 (SPIN1) sequesters ribosomal protein uL18 in
            the nucleolus, preventing it from interacting with c-mdm2
            Proto-oncogene protein (MDM2), and alleviating uL18-mediated
            inhibition of MDM2 ubiquitin ligase activity toward p53 tumor
            suppressor protein (p53).
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 454)
  AUTHORS   Yanagisawa H, Ishii T, Endo K, Kawakami E, Nagao K, Miyashita T,
            Akiyama K, Watabe K, Komatsu M, Yamamoto D and Eto Y.
  TITLE     L-leucine and SPNS1 coordinately ameliorate dysfunction of
            autophagy in mouse and human Niemann-Pick type C disease
  JOURNAL   Sci Rep 7 (1), 15944 (2017)
   PUBMED   29162837
  REMARK    GeneRIF: SPNS1-dependent L-leucine export across the lysosomal
            membrane is a key step for triggering autophagy, and that this
            mechanism is impaired in Niemann-Pick type C disease-1.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 454)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen
            AA, Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke
            L, Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM,
            Tiemeier H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst
            FC, Ward ME, Wright MJ, Davey Smith G, Deary IJ, Johannesson M,
            Plomin R, Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   5  (residues 1 to 454)
  AUTHORS   Vastermark A, Jacobsson JA, Johansson A, Fredriksson R, Gyllensten
            U and Schioth HB.
  TITLE     Polymorphisms in sh2b1 and spns1 loci are associated with
            triglyceride levels in a healthy population in northern Sweden
  JOURNAL   J Genet 91 (2), 237-240 (2012)
   PUBMED   22942098
  REMARK    GeneRIF: A single nucleotide polymorphism located within the spns1
            gene is associated with plasma triglyceride levels.
REFERENCE   6  (residues 1 to 454)
  AUTHORS   Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H,
            Elsasser HP, Mann M and Hasilik A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
REFERENCE   7  (residues 1 to 454)
  AUTHORS   Yanagisawa H, Miyashita T, Nakano Y and Yamamoto D.
  TITLE     HSpin1, a transmembrane protein interacting with Bcl-2/Bcl-xL,
            induces a caspase-independent autophagic cell death
  JOURNAL   Cell Death Differ 10 (7), 798-807 (2003)
   PUBMED   12815463
REFERENCE   8  (residues 1 to 454)
  AUTHORS   Nakano Y, Fujitani K, Kurihara J, Ragan J, Usui-Aoki K, Shimoda L,
            Lukacsovich T, Suzuki K, Sezaki M, Sano Y, Ueda R, Awano W, Kaneda
            M, Umeda M and Yamamoto D.
  TITLE     Mutations in the novel membrane protein spinster interfere with
            programmed cell death and cause neural degeneration in Drosophila
            melanogaster
  JOURNAL   Mol Cell Biol 21 (11), 3775-3788 (2001)
   PUBMED   11340170
  REMARK    GeneRIF: Spinster protein interferes with programmed cell death in
            Drosophila melanogaster and has orthologs in nematode, mouse, and
            human.
REFERENCE   9  (residues 1 to 454)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG771918.1, AL390215.1 and CD368853.1.
            
            Transcript Variant: This variant (5) lacks two alternate in-frame
            exons compared to variant 1. The resulting isoform (4) has the same
            N- and C-termini but is shorter compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL390215.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN02400289 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..454
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     Protein         1..454
                     /product="protein spinster homolog 1 isoform 4"
                     /note="sphingolipid transporter 1 (putative); solute
                     carrier family 63 member 1; protein spinster homolog 1;
                     spinster-like protein 1; SPNS sphingolipid transporter 1
                     (putative)"
                     /calculated_mol_wt=48882
     Region          62..405
                     /region_name="MFS_spinster_like"
                     /note="Protein spinster and spinster homologs of the Major
                     Facilitator Superfamily of transporters; cd17328"
                     /db_xref="CDD:340886"
     Site            order(72..73,76..77,80,90,142..143,145..147,150,170,
                     173..174,177,259,263,316..317,321,325,345,348..349,
                     352..353,356)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:340886"
     CDS             1..454
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /coded_by="NM_001142449.2:375..1739"
                     /note="isoform 4 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS45453.1"
                     /db_xref="GeneID:83985"
                     /db_xref="HGNC:HGNC:30621"
                     /db_xref="MIM:612583"
ORIGIN      
        1 magsdtapfl sqaddpddgp vpgtpglpgs tgnpkseepe vpdqeglqri tglspgrsal
       61 ivavlcyinl lnymdrftva vfissymvla pvfgylgdry nrkylmcggi afwslvtlgs
      121 sfipgehfwl llltrglvgv geasystiap tliadlfvad qrsrmlsify faipvgsglg
      181 yiagskvkdm agdwhwalrv tpglgvvavl llflvvrepp rgaverhsdl pplnptswwa
      241 dlralarnli fglitcltgv lgvglgveis rrlrhsnpra dplvcatgll gsapflflsl
      301 acargsivat yififigetl lsmnwaivad illyvviptr rstaeafqiv lshllgdags
      361 pyliglisdr lrrnwppsfl sefralqfsl mlcafvgalg gaaflgtaif ieadrrraql
      421 hvqgllheag stddrivvpq rgrstrvpva svli
//
LOCUS       NP_001356676             150 aa            linear   PRI 25-DEC-2022
DEFINITION  integrin beta-1-binding protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001356676 XP_005246246
VERSION     NP_001356676.1
DBSOURCE    REFSEQ: accession NM_001369747.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 150)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 150)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 150)
  AUTHORS   Su VL, Simon B, Draheim KM and Calderwood DA.
  TITLE     Serine phosphorylation of the small phosphoprotein ICAP1 inhibits
            its nuclear accumulation
  JOURNAL   J Biol Chem 295 (10), 3269-3284 (2020)
   PUBMED   32005669
  REMARK    GeneRIF: Serine phosphorylation of the small phosphoprotein ICAP1
            inhibits its nuclear accumulation.
REFERENCE   4  (residues 1 to 150)
  AUTHORS   Draheim KM, Huet-Calderwood C, Simon B and Calderwood DA.
  TITLE     Nuclear Localization of Integrin Cytoplasmic Domain-associated
            Protein-1 (ICAP1) Influences beta1 Integrin Activation and Recruits
            Krev/Interaction Trapped-1 (KRIT1) to the Nucleus
  JOURNAL   J Biol Chem 292 (5), 1884-1898 (2017)
   PUBMED   28003363
  REMARK    GeneRIF: nuclear-cytoplasmic shuttling of ICAP1 influences both
            integrin activation and KRIT1 localization, presumably impacting
            nuclear functions of KRIT1.
REFERENCE   5  (residues 1 to 150)
  AUTHORS   Bouin AP, Kyumurkov A, Regent-Kloeckner M, Ribba AS, Faurobert E,
            Fournier HN, Bourrin-Reynard I, Manet-Dupe S, Oddou C, Balland M,
            Planus E and Albiges-Rizo C.
  TITLE     ICAP-1 monoubiquitylation coordinates matrix density and rigidity
            sensing for cell migration through ROCK2-MRCKalpha balance
  JOURNAL   J Cell Sci 130 (3), 626-636 (2017)
   PUBMED   28049720
  REMARK    GeneRIF: ICAP-1 monoubiquitylation helps in switching from
            ROCK2-mediated to MRCKalpha-mediated cell contractility.
            Erratum:[J Cell Sci. 2017 Mar 15;130(6):1195. PMID: 28298614]
REFERENCE   6  (residues 1 to 150)
  AUTHORS   Chang DD, Hoang BQ, Liu J and Springer TA.
  TITLE     Molecular basis for interaction between Icap1 alpha PTB domain and
            beta 1 integrin
  JOURNAL   J Biol Chem 277 (10), 8140-8145 (2002)
   PUBMED   11741908
  REMARK    GeneRIF: Site-directed mutagenesis showed that Leu(135), Ile(138),
            and Ile(139) of Icap1 alpha, and Leu(82) and Tyr(144), are required
            for the Icap1 alpha-beta(1) integrin interaction
REFERENCE   7  (residues 1 to 150)
  AUTHORS   Zhang J, Clatterbuck RE, Rigamonti D, Chang DD and Dietz HC.
  TITLE     Interaction between krit1 and icap1alpha infers perturbation of
            integrin beta1-mediated angiogenesis in the pathogenesis of
            cerebral cavernous malformation
  JOURNAL   Hum Mol Genet 10 (25), 2953-2960 (2001)
   PUBMED   11741838
REFERENCE   8  (residues 1 to 150)
  AUTHORS   Gotthardt M, Trommsdorff M, Nevitt MF, Shelton J, Richardson JA,
            Stockinger W, Nimpf J and Herz J.
  TITLE     Interactions of the low density lipoprotein receptor gene family
            with cytosolic adaptor and scaffold proteins suggest diverse
            biological functions in cellular communication and signal
            transduction
  JOURNAL   J Biol Chem 275 (33), 25616-25624 (2000)
   PUBMED   10827173
REFERENCE   9  (residues 1 to 150)
  AUTHORS   Bouvard D and Block MR.
  TITLE     Calcium/calmodulin-dependent protein kinase II controls integrin
            alpha5beta1-mediated cell adhesion through the integrin cytoplasmic
            domain associated protein-1alpha
  JOURNAL   Biochem Biophys Res Commun 252 (1), 46-50 (1998)
   PUBMED   9813144
REFERENCE   10 (residues 1 to 150)
  AUTHORS   Chang DD, Wong C, Smith H and Liu J.
  TITLE     ICAP-1, a novel beta1 integrin cytoplasmic domain-associated
            protein, binds to a conserved and functionally important NPXY
            sequence motif of beta1 integrin
  JOURNAL   J Cell Biol 138 (5), 1149-1157 (1997)
   PUBMED   9281591
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC080162.7.
            On Apr 17, 2019 this sequence version replaced XP_005246246.1.
            
            Summary: The cytoplasmic domains of integrins are essential for
            cell adhesion. The protein encoded by this gene binds to the beta1
            integrin cytoplasmic domain. The interaction between this protein
            and beta1 integrin is highly specific. Two isoforms of this protein
            are derived from alternatively spliced transcripts. The shorter
            form of this protein does not interact with the beta1 integrin
            cytoplasmic domain. The longer form is a phosphoprotein and the
            extent of its phosphorylation is regulated by the cell-matrix
            interaction, suggesting an important role of this protein during
            integrin-dependent cell adhesion. Several transcript variants, some
            protein-coding and some non-protein coding, have been found for
            this gene. [provided by RefSeq, Jan 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.333020.1,
                                           ERR3218368.189221.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..150
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.1"
     Protein         1..150
                     /product="integrin beta-1-binding protein 1 isoform 2"
                     /note="integrin cytoplasmic domain-associated protein
                     1-beta; integrin cytoplasmic domain-associated protein
                     1-alpha; bodenin; integrin beta-1-binding protein 1"
                     /calculated_mol_wt=16009
     Region          1..150
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     CDS             1..150
                     /gene="ITGB1BP1"
                     /gene_synonym="ICAP-1A; ICAP-1alpha; ICAP-1B; ICAP1;
                     ICAP1A; ICAP1B"
                     /coded_by="NM_001369747.1:329..781"
                     /note="isoform 2 is encoded by transcript variant 18"
                     /db_xref="CCDS:CCDS1663.1"
                     /db_xref="GeneID:9270"
                     /db_xref="HGNC:HGNC:23927"
                     /db_xref="MIM:607153"
ORIGIN      
        1 mfrkgkkrhs ssssqsseis tksksvdssl gglsrsstva sldtdstkss gqsnnnsdtc
       61 aefrikyvga ieklklsegk glegpldlin yidvaqqdgk lpfvppeeef imgvskygik
      121 vstsdqyeqa qaickvlsta fdsvltsekp
//
LOCUS       NP_689578                398 aa            linear   PRI 25-DEC-2022
DEFINITION  keratinocyte differentiation factor 1 [Homo sapiens].
ACCESSION   NP_689578
VERSION     NP_689578.2
DBSOURCE    REFSEQ: accession NM_152365.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 398)
  AUTHORS   Yu M, Liu H, Liu Y, Zheng J, Wu J, Sun K, Feng H, Liu H and Han D.
  TITLE     KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects
  JOURNAL   Int J Mol Sci 23 (20), 12465 (2022)
   PUBMED   36293320
  REMARK    GeneRIF: KDF1 Novel Variant Causes Unique Dental and Oral
            Epithelial Defects.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 398)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 398)
  AUTHORS   Shamseldin HE, Khalifa O, Binamer YM, Almutawa A, Arold ST, Zaidan
            H and Alkuraya FS.
  TITLE     KDF1, encoding keratinocyte differentiation factor 1, is mutated in
            a multigenerational family with ectodermal dysplasia
  JOURNAL   Hum Genet 136 (1), 99-105 (2017)
   PUBMED   27838789
  REMARK    GeneRIF: We describe a family with a novel, autosomal dominant form
            of ectodermal dysplasia that we suggest is the mild human
            equivalent of the shd mutant phenotype in mouse based on the
            finding of a novel KDF1 variant by positional mapping and exome
            sequencing.
REFERENCE   4  (residues 1 to 398)
  AUTHORS   Lee S, Kong Y and Weatherbee SD.
  TITLE     Forward genetics identifies Kdf1/1810019J16Rik as an essential
            regulator of the proliferation-differentiation decision in
            epidermal progenitor cells
  JOURNAL   Dev Biol 383 (2), 201-213 (2013)
   PUBMED   24075906
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356390.24, DA041083.1, AK091952.1 and BC033143.1.
            On Dec 30, 2009 this sequence version replaced NP_689578.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1178621.1, AK091952.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320567.6/ ENSP00000319179.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..398
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     Protein         1..398
                     /product="keratinocyte differentiation factor 1"
                     /note="RP11-344H11.3"
                     /calculated_mol_wt=43511
     Region          1..60
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAX2.2)"
     Region          123..156
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAX2.2)"
     Site            218
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A2A9F4; propagated from
                     UniProtKB/Swiss-Prot (Q8NAX2.2)"
     Region          307..340
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAX2.2)"
     Region          369..392
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAX2.2)"
     CDS             1..398
                     /gene="KDF1"
                     /gene_synonym="C1orf172; ECTD12"
                     /coded_by="NM_152365.3:152..1348"
                     /db_xref="CCDS:CCDS293.1"
                     /db_xref="GeneID:126695"
                     /db_xref="HGNC:HGNC:26624"
                     /db_xref="MIM:616758"
ORIGIN      
        1 mprpghprpa sgpprlgpwe rptelclety dkppqpppsr rtrrpdpkdp ghhgpesitf
       61 isgsaepale sptccllwrp wvwewcraaf cfrrcrdclq rcgacvrgcs pclstedste
      121 gtaeanwake hngvppspdr appsrrdgqr lkstmgssfs ypdvklkgip vypypratsp
      181 apdadsccke pladpppmrh slpstfassp rgseeyysfh esdldlpemg sgsmssreid
      241 vlifkkltel fsvhqidela kctsdtvfle ktskisdlis sitqdyhlde qdaegrlvrg
      301 iiristrksr arpqtsegrs traaaptaaa pdsghetmvg sglsqdeltv qisqettada
      361 iarklrpyga pgypashdss fqgtdtdssg apllqvyc
//
LOCUS       NP_001307519              69 aa            linear   PRI 25-DEC-2022
DEFINITION  acylphosphatase-2 isoform 6 [Homo sapiens].
ACCESSION   NP_001307519
VERSION     NP_001307519.1
DBSOURCE    REFSEQ: accession NM_001320590.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 69)
  AUTHORS   Gentiluomo M, Luddi A, Cingolani A, Fornili M, Governini L,
            Lucenteforte E, Baglietto L, Piomboni P and Campa D.
  TITLE     Telomere Length and Male Fertility
  JOURNAL   Int J Mol Sci 22 (8), 3959 (2021)
   PUBMED   33921254
  REMARK    GeneRIF: Telomere Length and Male Fertility.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 69)
  AUTHORS   AlDehaini DMB, Al-Bustan SA, Malalla ZHA, Ali ME, Sater M and Giha
            HA.
  TITLE     The influence of TERC, TERT and ACYP2 genes polymorphisms on plasma
            telomerase concentration, telomeres length and T2DM
  JOURNAL   Gene 766, 145127 (2021)
   PUBMED   32937184
  REMARK    GeneRIF: The influence of TERC, TERT and ACYP2 genes polymorphisms
            on plasma telomerase concentration, telomeres length and T2DM.
REFERENCE   3  (residues 1 to 69)
  AUTHORS   Li M, Ruan B, Wei J, Yang Q, Chen M, Ji M and Hou P.
  TITLE     ACYP2 contributes to malignant progression of glioma through
            promoting Ca2+ efflux and subsequently activating c-Myc and STAT3
            signals
  JOURNAL   J Exp Clin Cancer Res 39 (1), 106 (2020)
   PUBMED   32517717
  REMARK    GeneRIF: ACYP2 contributes to malignant progression of glioma
            through promoting Ca(2+) efflux and subsequently activating c-Myc
            and STAT3 signals.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 69)
  AUTHORS   Wang Y, Zhang Y, Sun Y, Wu J, Chang J, Xiong Z, Niu F, Gu S and Jin
            T.
  TITLE     Association between ACYP2 polymorphisms and the risk of renal cell
            cancer
  JOURNAL   Mol Genet Genomic Med 7 (11), e966 (2019)
   PUBMED   31487124
  REMARK    GeneRIF: ACYP2 polymorphisms are associated with the risk of renal
            cell cancer.
REFERENCE   5  (residues 1 to 69)
  AUTHORS   Jin G, Liang Y, Yan X, Zhang L, Li Z, Yin A, Wang X and Tian P.
  TITLE     Association between the ACYP2 Polymorphisms and IgAN Risk in the
            Chinese Han Population
  JOURNAL   Kidney Blood Press Res 44 (4), 810-822 (2019)
   PUBMED   31291640
  REMARK    GeneRIF: findings suggested that polymorphisms (rs843720 and
            rs12615793) of ACYP2 may be pivotal in the development of IgAN
REFERENCE   6  (residues 1 to 69)
  AUTHORS   Fiaschi T, Marzocchini R, Raugei G, Veggi D, Chiarugi P and Ramponi
            G.
  TITLE     The 5'-untranslated region of the human muscle acylphosphatase mRNA
            has an inhibitory effect on protein expression
  JOURNAL   FEBS Lett 417 (1), 130-134 (1997)
   PUBMED   9395090
REFERENCE   7  (residues 1 to 69)
  AUTHORS   Chiarugi P, Raugei G, Marzocchini R, Fiaschi T, Ciccarelli C, Berti
            A and Ramponi G.
  TITLE     Differential modulation of expression of the two acylphosphatase
            isoenzymes by thyroid hormone
  JOURNAL   Biochem J 311 (Pt 2) (Pt 2), 567-573 (1995)
   PUBMED   7487897
REFERENCE   8  (residues 1 to 69)
  AUTHORS   Fiaschi T, Raugei G, Marzocchini R, Chiarugi P, Cirri P and Ramponi
            G.
  TITLE     Cloning and expression of the cDNA coding for the erythrocyte
            isoenzyme of human acylphosphatase
  JOURNAL   FEBS Lett 367 (2), 145-148 (1995)
   PUBMED   7796909
REFERENCE   9  (residues 1 to 69)
  AUTHORS   Liguri,G., Camici,G., Manao,G., Cappugi,G., Nassi,P., Modesti,A.
            and Ramponi,G.
  TITLE     A new acylphosphatase isoenzyme from human erythrocytes:
            purification, characterization, and primary structure
  JOURNAL   Biochemistry 25 (24), 8089-8094 (1986)
   PUBMED   3026468
REFERENCE   10 (residues 1 to 69)
  AUTHORS   Manao,G., Camici,G., Modesti,A., Liguri,G., Berti,A., Stefani,M.,
            Cappugi,G. and Ramponi,G.
  TITLE     Human skeletal muscle acylphosphatase: the primary structure
  JOURNAL   Mol Biol Med 2 (6), 369-378 (1984)
   PUBMED   6100723
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK307096.1 and AC008280.4.
            
            Summary: Acylphosphatase can hydrolyze the phosphoenzyme
            intermediate of different membrane pumps, particularly the
            Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle.
            Two isoenzymes have been isolated, called muscle acylphosphatase
            and erythrocyte acylphosphatase on the basis of their tissue
            localization. This gene encodes the muscle-type isoform (MT). An
            increase of the MT isoform is associated with muscle
            differentiation. Several transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Feb
            2016].
            
            Transcript Variant: This variant (6) differs in the 3' UTR and
            coding sequence and represents use of an alternate promoter,
            therefore differing in the 5' UTR and 5' coding region compared to
            variant 1. The resulting isoform (6) has shorter and distinct N-
            and C-termini compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK307096.1, DA161065.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
                                                (PMID:9395090)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..69
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.2"
     Protein         1..69
                     /product="acylphosphatase-2 isoform 6"
                     /EC_number="3.6.1.7"
                     /note="acylphosphate phosphohydrolase 2; acylphosphatase,
                     muscle type isozyme; acylphosphatase 2, muscle type;
                     testicular tissue protein Li 11"
                     /calculated_mol_wt=7415
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P14621.2)"
     Region          8..>64
                     /region_name="Acylphosphatase"
                     /note="cl00551"
                     /db_xref="CDD:444972"
     CDS             1..69
                     /gene="ACYP2"
                     /gene_synonym="ACYM; ACYP"
                     /coded_by="NM_001320590.2:85..294"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS92753.1"
                     /db_xref="GeneID:98"
                     /db_xref="HGNC:HGNC:180"
                     /db_xref="MIM:102595"
ORIGIN      
        1 mstaqslksv dyevfgrvqg vcfrmytede arkigvvgwv kntskgtvtg qvqgpedkvn
       61 smlecsgli
//
LOCUS       NP_001337344            1031 aa            linear   PRI 27-DEC-2022
DEFINITION  regulating synaptic membrane exocytosis protein 1 isoform 11 [Homo
            sapiens].
ACCESSION   NP_001337344
VERSION     NP_001337344.1
DBSOURCE    REFSEQ: accession NM_001350415.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1031)
  AUTHORS   Hirano M, Takada Y, Wong CF, Yamaguchi K, Kotani H, Kurokawa T,
            Mori MX, Snutch TP, Ronjat M, De Waard M and Mori Y.
  TITLE     C-terminal splice variants of P/Q-type Ca2+ channel CaV2.1 alpha1
            subunits are differentially regulated by Rab3-interacting molecule
            proteins
  JOURNAL   J Biol Chem 292 (22), 9365-9381 (2017)
   PUBMED   28377503
  REMARK    GeneRIF: Electrophysiological characterization of VDCC currents
            revealed that the suppressive effect of RIM2alpha on
            voltage-dependent inactivation (VDI) was stronger than that of
            RIM1alpha for the CaV2.1 variant containing the region encoded by
            exons 44 and 47.
REFERENCE   2  (residues 1 to 1031)
  AUTHORS   Warwick AN, Shawkat F and Lotery AJ.
  TITLE     Retinitis pigmentosa and bilateral cystoid macular oedema in a
            patient heterozygous for the RIM1 mutation previously associated
            with cone-rod dystrophy 7
  JOURNAL   Ophthalmic Genet 38 (2), 178-182 (2017)
   PUBMED   27176872
  REMARK    GeneRIF: This is the first reported case of bilateral cystoid
            macular edema in association with the RIM1 mutation. Overall, our
            findings were more consistent with a phenotype of retinitis
            pigmentosa.
REFERENCE   3  (residues 1 to 1031)
  AUTHORS   Ruhle F, Witten A, Barysenka A, Huge A, Arning A, Heller C, Krumpel
            A, Mesters R, Franke A, Lieb W, Riemenschneider M, Hiersche M,
            Limperger V, Nowak-Gottl U and Stoll M.
  TITLE     Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to
            pediatric venous thromboembolism
  JOURNAL   Blood 129 (6), 783-790 (2017)
   PUBMED   28011674
  REMARK    GeneRIF: The study identified a region on chromosome 6 comprising
            the genes SMAP1, B3GAT2, and RIMS1 as novel susceptibility locus
            for pediatric venous thromboembolism.
REFERENCE   4  (residues 1 to 1031)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   5  (residues 1 to 1031)
  AUTHORS   Cornejo-Garcia JA, Liou LB, Blanca-Lopez N, Dona I, Chen CH, Chou
            YC, Chuang HP, Wu JY, Chen YT, Plaza-Seron Mdel C, Mayorga C,
            Gueant-Rodriguez RM, Lin SC, Torres MJ, Campo P, Rondon C, Laguna
            JJ, Fernandez J, Gueant JL, Canto G, Blanca M and Lee MT.
  TITLE     Genome-wide association study in NSAID-induced acute
            urticaria/angioedema in Spanish and Han Chinese populations
  JOURNAL   Pharmacogenomics 14 (15), 1857-1869 (2013)
   PUBMED   24236485
REFERENCE   6  (residues 1 to 1031)
  AUTHORS   Wang Y, Liu X, Biederer T and Sudhof TC.
  TITLE     A family of RIM-binding proteins regulated by alternative splicing:
            Implications for the genesis of synaptic active zones
  JOURNAL   Proc Natl Acad Sci U S A 99 (22), 14464-14469 (2002)
   PUBMED   12391317
REFERENCE   7  (residues 1 to 1031)
  AUTHORS   Ohtsuka T, Takao-Rikitsu E, Inoue E, Inoue M, Takeuchi M, Matsubara
            K, Deguchi-Tawarada M, Satoh K, Morimoto K, Nakanishi H and Takai
            Y.
  TITLE     Cast: a novel protein of the cytomatrix at the active zone of
            synapses that forms a ternary complex with RIM1 and munc13-1
  JOURNAL   J Cell Biol 158 (3), 577-590 (2002)
   PUBMED   12163476
REFERENCE   8  (residues 1 to 1031)
  AUTHORS   Schoch S, Castillo PE, Jo T, Mukherjee K, Geppert M, Wang Y,
            Schmitz F, Malenka RC and Sudhof TC.
  TITLE     RIM1alpha forms a protein scaffold for regulating neurotransmitter
            release at the active zone
  JOURNAL   Nature 415 (6869), 321-326 (2002)
   PUBMED   11797009
REFERENCE   9  (residues 1 to 1031)
  AUTHORS   Coppola T, Magnin-Luthi S, Perret-Menoud V, Gattesco S, Schiavo G
            and Regazzi R.
  TITLE     Direct interaction of the Rab3 effector RIM with Ca2+ channels,
            SNAP-25, and synaptotagmin
  JOURNAL   J Biol Chem 276 (35), 32756-32762 (2001)
   PUBMED   11438518
REFERENCE   10 (residues 1 to 1031)
  AUTHORS   Betz A, Thakur P, Junge HJ, Ashery U, Rhee JS, Scheuss V, Rosenmund
            C, Rettig J and Brose N.
  TITLE     Functional interaction of the active zone proteins Munc13-1 and
            RIM1 in synaptic vesicle priming
  JOURNAL   Neuron 30 (1), 183-196 (2001)
   PUBMED   11343654
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590011.5, AL445256.18 and
            AL035633.18.
            
            Summary: The protein encoded by this gene is a RAS gene superfamily
            member that regulates synaptic vesicle exocytosis. This gene also
            plays a role in the regulation of voltage-gated calcium channels
            during neurotransmitter and insulin release. Mutations have
            suggested a role cognition and have been identified as the cause of
            cone-rod dystrophy type 7. Multiple transcript variants encoding
            different isoforms have been described for this gene. [provided by
            RefSeq, Mar 2012].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.122718.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465402, SAMN03465403
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1031
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q13"
     Protein         1..1031
                     /product="regulating synaptic membrane exocytosis protein
                     1 isoform 11"
                     /note="RAB3-interacting protein 2; rab3-interacting
                     molecule 1; rab-3-interacting protein 2"
                     /calculated_mol_wt=115185
     Region          78..163
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(89..92,94,146..147,150..151)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          216..342
                     /region_name="C2A_RIM1alpha"
                     /note="C2 domain first repeat contained in
                     Rab3-interacting molecule (RIM) proteins; cd04031"
                     /db_xref="CDD:175997"
     Site            order(247,253,308,310,318)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:175997"
     Region          426..>633
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          862..1007
                     /region_name="C2B_RIM1alpha"
                     /note="C2 domain second repeat contained in
                     Rab3-interacting molecule (RIM) proteins; cd04028"
                     /db_xref="CDD:175994"
     Site            order(919,923..924,926,929,957,959,961,1005..1006)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:175994"
     CDS             1..1031
                     /gene="RIMS1"
                     /gene_synonym="CORD7; RAB3IP2; RIM; RIM1"
                     /coded_by="NM_001350415.2:231..3326"
                     /note="isoform 11 is encoded by transcript variant 11"
                     /db_xref="GeneID:22999"
                     /db_xref="HGNC:HGNC:17282"
                     /db_xref="MIM:606629"
ORIGIN      
        1 mcapgihvss egweevrsvd seegtiearr avagdldyyw ldpatwhsre tspisshpvt
       61 wqpskegdrl igrvilnkrt tmpkdsgall glkvvggkmt dlgrlgafit kvkkgsladv
      121 vghlragdev lewngkplpg atneevynii lesksepqve iivsrpigdi pripesshpp
      181 lesssssfes qkmerpsisv isptspgalk dapqvlpgql svklwydkvg hqlivnvlqa
      241 tdlparvdgr prnpyvkmyf lpdrsdkskr rtktvkkile pkwnqtfvys hvhrrdfrer
      301 mleitvwdqp rvqeeesefl geilieleta llddephwyk lqthdesslp lpqpspfmpr
      361 rhihgesssk klqrsqrisd sdisdyevdd gigvvppgyr ssareskstt ltvpeqqrtt
      421 hhrsrsvsph rgndqgkprs rlpnvplqrs ldeihptrrs rsptrhhdas rspvdhrtrd
      481 vdsqylseqd sellmlprak rgrsaeclht tselqpfldr arsastnclr pdtslhsper
      541 ergrwspsld rrrppspriq iqhaspendr hsrkserssi qkqtrkgtas daermhrqrs
      601 ptqsppadts fssrrgrqlp qvpvrsgsie qaslvveert rqmkmkvhrf kqttgsgssq
      661 eldreqysky nihkdqyrsc dnvsakssds dvsdvsaisr tssasrlsst sfmseqserp
      721 rgrirrmgts grsimkstsv sgemytlehn dgsqsdtavg tvgaggkkrr sslsakvvai
      781 vsrrsrstsq lsqtesghkk lkstiqrste tgmaaemrkm vrqpsrestd gsinsysseg
      841 nlifpgvrlg adsqfsdfld glgpaqlvgr qtlatpamgd iqigmedkkg qlevevirar
      901 sltqkpgsks tpapyvkvyl lengaciakk ktriarktld plyqqslvfd espqgkvlqv
      961 ivwgdygrmd hkcfmgvaqi lleeldlssm vigwyklfpp sslvdptltp ltrrasqssl
     1021 esstgppcir s
//
LOCUS       NP_001336172             553 aa            linear   PRI 27-DEC-2022
DEFINITION  cAMP-specific 3',5'-cyclic phosphodiesterase 4D isoform 12 [Homo
            sapiens].
ACCESSION   NP_001336172 XP_016865060
VERSION     NP_001336172.1
DBSOURCE    REFSEQ: accession NM_001349243.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 553)
  AUTHORS   Gao R, Guo W, Fan T, Pang J, Hou Y, Feng X, Li B, Ge W, Fan T,
            Zhang T, Lu J, Jing H, Jin M, Yan C and Wang J.
  TITLE     Phosphodiesterase 4D contributes to angiotensin II-induced
            abdominal aortic aneurysm through smooth muscle cell apoptosis
  JOURNAL   Exp Mol Med 54 (8), 1201-1213 (2022)
   PUBMED   35999453
  REMARK    GeneRIF: Phosphodiesterase 4D contributes to angiotensin II-induced
            abdominal aortic aneurysm through smooth muscle cell apoptosis.
REFERENCE   2  (residues 1 to 553)
  AUTHORS   Yan L, Li K, Zhang W, Shen C, Ma L and Sun Y.
  TITLE     The relationship between phosphodiesterase 4D gene polymorphism and
            coronary heart disease
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 67 (6), 26-32 (2022)
   PUBMED   35818218
  REMARK    GeneRIF: The relationship between phosphodiesterase 4D gene
            polymorphism and coronary heart disease.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 553)
  AUTHORS   Rosand,J., Bayley,N., Rost,N. and de Bakker,P.I.
  TITLE     Many hypotheses but no replication for the association between
            PDE4D and stroke
  JOURNAL   Nat Genet 38 (10), 1091-1093 (2006)
   PUBMED   17006457
REFERENCE   4  (residues 1 to 553)
  AUTHORS   Gretarsdottir S, Thorleifsson G, Reynisdottir ST, Manolescu A,
            Jonsdottir S, Jonsdottir T, Gudmundsdottir T, Bjarnadottir SM,
            Einarsson OB, Gudjonsdottir HM, Hawkins M, Gudmundsson G,
            Gudmundsdottir H, Andrason H, Gudmundsdottir AS, Sigurdardottir M,
            Chou TT, Nahmias J, Goss S, Sveinbjornsdottir S, Valdimarsson EM,
            Jakobsson F, Agnarsson U, Gudnason V, Thorgeirsson G, Fingerle J,
            Gurney M, Gudbjartsson D, Frigge ML, Kong A, Stefansson K and
            Gulcher JR.
  TITLE     The gene encoding phosphodiesterase 4D confers risk of ischemic
            stroke
  JOURNAL   Nat Genet 35 (2), 131-138 (2003)
   PUBMED   14517540
  REMARK    GeneRIF: fine mapping of locus and testing for association with
            stroke
            Erratum:[Nat Genet. 2005 May;37(5):555]
REFERENCE   5  (residues 1 to 553)
  AUTHORS   Dominiczak,A.F. and McBride,M.W.
  TITLE     Genetics of common polygenic stroke
  JOURNAL   Nat Genet 35 (2), 116-117 (2003)
   PUBMED   14517535
REFERENCE   6  (residues 1 to 553)
  AUTHORS   Le Jeune IR, Shepherd M, Van Heeke G, Houslay MD and Hall IP.
  TITLE     Cyclic AMP-dependent transcriptional up-regulation of
            phosphodiesterase 4D5 in human airway smooth muscle cells.
            Identification and characterization of a novel PDE4D5 promoter
  JOURNAL   J Biol Chem 277 (39), 35980-35989 (2002)
   PUBMED   12121997
  REMARK    GeneRIF: PDE4D5 is upregulated in tracheal smooth muscle cells
            because of a CRE-containing, isoform-specific promoter
REFERENCE   7  (residues 1 to 553)
  AUTHORS   Nemoz G, Zhang R, Sette C and Conti M.
  TITLE     Identification of cyclic AMP-phosphodiesterase variants from the
            PDE4D gene expressed in human peripheral mononuclear cells
  JOURNAL   FEBS Lett 384 (1), 97-102 (1996)
   PUBMED   8797812
REFERENCE   8  (residues 1 to 553)
  AUTHORS   Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and
            Morton CC.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
REFERENCE   9  (residues 1 to 553)
  AUTHORS   Milatovich A, Bolger G, Michaeli T and Francke U.
  TITLE     Chromosome localizations of genes for five cAMP-specific
            phosphodiesterases in man and mouse
  JOURNAL   Somat Cell Mol Genet 20 (2), 75-86 (1994)
   PUBMED   8009369
REFERENCE   10 (residues 1 to 553)
  AUTHORS   Swinnen JV, Joseph DR and Conti M.
  TITLE     The mRNA encoding a high-affinity cAMP phosphodiesterase is
            regulated by hormones and cAMP
  JOURNAL   Proc Natl Acad Sci U S A 86 (21), 8197-8201 (1989)
   PUBMED   2554303
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB230503.1, AY245866.1,
            AC091955.2, AC092343.3 and BI492585.1.
            On Mar 9, 2017 this sequence version replaced XP_016865060.1.
            
            Summary: This gene encodes one of four mammalian counterparts to
            the fruit fly 'dunce' gene. The encoded protein has
            3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP,
            which acts as a signal transduction molecule in multiple cell
            types. This gene uses different promoters to generate multiple
            alternatively spliced transcript variants that encode functional
            proteins.[provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (12) differs in the 5' UTR and
            coding region, compared to variant 1. Isoform 12 is shorter and has
            a distinct N-terminus, compared to isoform PDE4D4. Variants 12 and
            18 both encode the same isoform (12).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..553
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q11.2-q12.1"
     Protein         1..553
                     /product="cAMP-specific 3',5'-cyclic phosphodiesterase 4D
                     isoform 12"
                     /EC_number="3.1.4.53"
                     /note="phosphodiesterase 4D, cAMP-specific
                     (phosphodiesterase E3 dunce homolog, Drosophila);
                     cAMP-specific 3',5'-cyclic phosphodiesterase 4D;
                     cAMP-specific phosphodiesterase PDE4D6; testicular tissue
                     protein Li 136"
                     /calculated_mol_wt=62941
     Region          <1..83
                     /region_name="PDE4_UCR"
                     /note="Phosphodiesterase 4 upstream conserved regions
                     (UCR); pfam18100"
                     /db_xref="CDD:436273"
     Region          205..445
                     /region_name="PDEase_I"
                     /note="3'5'-cyclic nucleotide phosphodiesterase;
                     pfam00233"
                     /db_xref="CDD:425542"
     CDS             1..553
                     /gene="PDE4D"
                     /gene_synonym="ACRDYS2; DPDE3; HSPDE4D; PDE43; PDE4DN2;
                     STRK1"
                     /coded_by="NM_001349243.2:798..2459"
                     /note="isoform 12 is encoded by transcript variant 12"
                     /db_xref="GeneID:5144"
                     /db_xref="HGNC:HGNC:8783"
                     /db_xref="MIM:600129"
ORIGIN      
        1 mcnqpsinka titeeayqkl asetleeldw cldqletlqt rhsvsemasn kfkrmlnrel
       61 thlsemsrsg nqvsefisnt fldkqhevei psptqkekek kkrpmsqisg vkklmhsssl
      121 tnssiprfgv kteqedvlak eledvnkwgl hvfriaelsg nrpltvimht ifqerdllkt
      181 fkipvdtlit ylmtledhyh advayhnnih aadvvqsthv llstpaleav ftdleilaai
      241 fasaihdvdh pgvsnqflin tnselalmyn dssvlenhhl avgfkllqee ncdifqnltk
      301 kqrqslrkmv idivlatdms khmnlladlk tmvetkkvts sgvllldnys driqvlqnmv
      361 hcadlsnptk plqlyrqwtd rimeeffrqg drerergmei spmcdkhnas veksqvgfid
      421 yivhplwetw adlvhpdaqd ildtlednre wyqstipqsp spapddpeeg rqgqtekfqf
      481 eltleedges dtekdsgsqv eedtscsdsk tlctqdsest eipldeqvee eavgeeeesq
      541 peacviddrs pdt
//
LOCUS       NP_659428                669 aa            linear   PRI 27-DEC-2022
DEFINITION  thrombospondin-type laminin G domain and EAR repeat-containing
            protein isoform 1 precursor [Homo sapiens].
ACCESSION   NP_659428
VERSION     NP_659428.2
DBSOURCE    REFSEQ: accession NM_144991.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 669)
  AUTHORS   Rabie EA, Sayed ISM, Amr K, Ahmed HA, Mostafa MI, Hassib NF,
            El-Sayed H, Zada SK and El-Kamah G.
  TITLE     Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian
            Ectodermal Dysplasia Patients and Role of Ethnicity
  JOURNAL   Genes (Basel) 13 (6), 1056 (2022)
   PUBMED   35741818
  REMARK    GeneRIF: Confirmation of a Phenotypic Entity for TSPEAR Variants in
            Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 669)
  AUTHORS   Bowles B, Ferrer A, Nishimura CJ, Pinto E Vairo F, Rey T, Leheup B,
            Sullivan J, Schoch K, Stong N, Agolini E, Cocciadiferro D, Williams
            A, Cummings A, Loddo S, Genovese S, Roadhouse C, McWalter K,
            Wentzensen IM, Li C, Babovic-Vuksanovic D, Lanpher BC, Dentici ML,
            Ankala A, Hamm JA, Dallapiccola B, Radio FC, Shashi V, Gerard B,
            Bloch-Zupan A, Smith RJ and Klee EW.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     TSPEAR variants are primarily associated with ectodermal dysplasia
            and tooth agenesis but not hearing loss: A novel cohort study
  JOURNAL   Am J Med Genet A 185 (8), 2417-2433 (2021)
   PUBMED   34042254
  REMARK    GeneRIF: TSPEAR variants are primarily associated with ectodermal
            dysplasia and tooth agenesis but not hearing loss: A novel cohort
            study.
REFERENCE   3  (residues 1 to 669)
  AUTHORS   Song JS, Bae M and Kim JW.
  TITLE     Novel TSPEAR mutations in non-syndromic oligodontia
  JOURNAL   Oral Dis 26 (4), 847-849 (2020)
   PUBMED   32112661
  REMARK    GeneRIF: Novel TSPEAR mutations in non-syndromic oligodontia.
REFERENCE   4  (residues 1 to 669)
  AUTHORS   Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y,
            Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E,
            Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A and Uyguner ZO.
  TITLE     Identification of likely pathogenic and known variants in TSPEAR,
            LAMB3, BCOR, and WNT10A in four Turkish families with tooth
            agenesis
  JOURNAL   Hum Genet 137 (9), 689-703 (2018)
   PUBMED   30046887
  REMARK    GeneRIF: TSPEAR mutation is associated with tooth agenesis.
REFERENCE   5  (residues 1 to 669)
  AUTHORS   Wang Y and Tatakis DN.
  TITLE     Human gingiva transcriptome during wound healing
  JOURNAL   J Clin Periodontol 44 (4), 394-402 (2017)
   PUBMED   28005267
  REMARK    GeneRIF: TSPEAR expression is significantly downregulated in human
            masticatory mucosa during wound healing
REFERENCE   6  (residues 1 to 669)
  AUTHORS   Peled A, Sarig O, Samuelov L, Bertolini M, Ziv L, Weissglas-Volkov
            D, Eskin-Schwartz M, Adase CA, Malchin N, Bochner R, Fainberg G,
            Goldberg I, Sugawara K, Baniel A, Tsuruta D, Luxenburg C, Adir N,
            Duverger O, Morasso M, Shalev S, Gallo RL, Shomron N, Paus R and
            Sprecher E.
  TITLE     Mutations in TSPEAR, Encoding a Regulator of Notch Signaling,
            Affect Tooth and Hair Follicle Morphogenesis
  JOURNAL   PLoS Genet 12 (10), e1006369 (2016)
   PUBMED   27736875
  REMARK    GeneRIF: using a luciferase-based reporter assay, we showed that
            TSPEAR knock-down is associated with decreased Notch signaling. In
            addition, NOTCH1 protein expression was reduced in patient scalp
            skin. Moreover, TSPEAR silencing in mouse hair follicle organ
            cultures was found to induce apoptosis in follicular epithelial
            cells, resulting in decreased hair bulb diameter
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 669)
  AUTHORS   Delmaghani S, Aghaie A, Michalski N, Bonnet C, Weil D and Petit C.
  TITLE     Defect in the gene encoding the EAR/EPTP domain-containing protein
            TSPEAR causes DFNB98 profound deafness
  JOURNAL   Hum Mol Genet 21 (17), 3835-3844 (2012)
   PUBMED   22678063
  REMARK    GeneRIF: TSPEAR, cause disorders with auditory features: epilepsy,
            which can include auditory features in humans; audiogenic seizures
            in animals; and/or hearing impairments in humans and mice.
REFERENCE   8  (residues 1 to 669)
  AUTHORS   Scheel H, Tomiuk S and Hofmann K.
  TITLE     A common protein interaction domain links two recently identified
            epilepsy genes
  JOURNAL   Hum Mol Genet 11 (15), 1757-1762 (2002)
   PUBMED   12095917
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ487962.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 29, 2002 this sequence version replaced NP_659428.1.
            
            Summary: This gene encodes a protein that contains a N-terminal
            thrombospondin-type laminin G domain and several tandem arranged
            epilepsy-associated repeats (EARs). A mutation in this gene is the
            cause of autosomal recessive deafness-98. Alternate splicing
            results in multiple transcript variants. [provided by RefSeq, Dec
            2012].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ487962.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000323084.9/ ENSP00000321987.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..669
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..669
                     /product="thrombospondin-type laminin G domain and EAR
                     repeat-containing protein isoform 1 precursor"
                     /note="thrombospondin-type laminin G domain and EAR
                     repeats-containing protein"
                     /calculated_mol_wt=73045
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1897
     mat_peptide     20..669
                     /product="Thrombospondin-type laminin G domain and EAR
                     repeat-containing protein. /id=PRO_0000022597"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WU66.2)"
                     /calculated_mol_wt=73045
     Region          <82..222
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cl22861"
                     /db_xref="CDD:451433"
     Region          313..358
                     /region_name="EAR 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00075"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WU66.2)"
     Site            320
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WU66.2)"
     Region          360..408
                     /region_name="EAR 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00075"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WU66.2)"
     Region          360..406
                     /region_name="EPTP"
                     /note="EPTP domain; pfam03736"
                     /db_xref="CDD:427474"
     Region          412..460
                     /region_name="EAR 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00075"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WU66.2)"
     Region          412..458
                     /region_name="EPTP"
                     /note="EPTP domain; pfam03736"
                     /db_xref="CDD:427474"
     Region          464..506
                     /region_name="EAR 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00075"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WU66.2)"
     Region          465..501
                     /region_name="EPTP"
                     /note="EPTP domain; pfam03736"
                     /db_xref="CDD:427474"
     Site            468
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WU66.2)"
     Site            497
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WU66.2)"
     Region          514..570
                     /region_name="EAR 5.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00075"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WU66.2)"
     Region          514..567
                     /region_name="EPTP"
                     /note="EPTP domain; pfam03736"
                     /db_xref="CDD:427474"
     Site            556
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WU66.2)"
     Site            569
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WU66.2)"
     Region          574..622
                     /region_name="EAR 6.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00075"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WU66.2)"
     Region          575..620
                     /region_name="EPTP"
                     /note="EPTP domain; pfam03736"
                     /db_xref="CDD:427474"
     Region          625..668
                     /region_name="EAR 7.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00075"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WU66.2)"
     Region          625..665
                     /region_name="EPTP"
                     /note="EPTP domain; pfam03736"
                     /db_xref="CDD:427474"
     CDS             1..669
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /coded_by="NM_144991.3:59..2068"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS13712.1"
                     /db_xref="GeneID:54084"
                     /db_xref="HGNC:HGNC:1268"
                     /db_xref="MIM:612920"
ORIGIN      
        1 msallslcfv lplaapghgt qgwepctdlr pldilaevvp sdgatsgiri vqvhgarglq
       61 lsvaaprtms fpasrifsqc dlfpeefsiv vtlrvpnlpp krneylltvv aeesdllllg
      121 lrlspaqlhf lflredtaga wqtrvsfrsp alvdgrwhtl vlavsagvfs lttdcglpvd
      181 imadvpfpat lsvkgarffv gsrrrakglf mglvrqlvll pgsdatprlc psrnaplavl
      241 siprvlqalt gkpednevlk ypyetnirvt lgpqppctev edaqfwfdas rkglylcvgn
      301 ewvsvlaake rldyveehqn lstnsetlgi evfripqvgl fvatanrkat savykwteek
      361 fvsyqnipth qaqawrhfti gkkiflavan fepdekgqef sviykwshrk lkftpyqsia
      421 thsardweaf evdgehflav anhregdnhn idsviykwnp atrlfeanqt iatsgaydwe
      481 ffsvgpysfl vvantfngts tkvhshlyir llgsfqlfqs fptfgaadwe vfqigerifl
      541 avanshsydv emqvqndsyv insviyelnv taqafvkfqd iltcsaldwe ffsvgedyfl
      601 vvansfdgrt fsvnsiiyrw qgyegfvavh slptvgcrdw eafsttagay liyssakepl
      661 srvlrlrtr
//
LOCUS       NP_064703                526 aa            linear   PRI 27-DEC-2022
DEFINITION  cyclin-L1 isoform 1 [Homo sapiens].
ACCESSION   NP_064703
VERSION     NP_064703.1
DBSOURCE    REFSEQ: accession NM_020307.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 526)
  AUTHORS   O'Brien S, Kelso S, Steinhart Z, Orlicky S, Mis M, Kim Y, Lin S,
            Sicheri F and Angers S.
  TITLE     SCFFBXW7 regulates G2-M progression through control of CCNL1
            ubiquitination
  JOURNAL   EMBO Rep 23 (12), e55044 (2022)
   PUBMED   36278408
  REMARK    GeneRIF: SCF[FBXW7] regulates G2-M progression through control of
            CCNL1 ubiquitination.
REFERENCE   2  (residues 1 to 526)
  AUTHORS   Zeng X, Hu Z, Shen Y, Wei X, Gan J and Liu Z.
  TITLE     MiR-5195-3p functions as a tumor suppressor in prostate cancer via
            targeting CCNL1
  JOURNAL   Cell Mol Biol Lett 27 (1), 25 (2022)
   PUBMED   35260070
  REMARK    GeneRIF: MiR-5195-3p functions as a tumor suppressor in prostate
            cancer via targeting CCNL1.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 526)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 526)
  AUTHORS   Lin X, Wang J, Yun L, Jiang S, Li L, Chen X, Li Z, Lu Q, Zhang Y
            and Ma X.
  TITLE     Association between LEKR1-CCNL1 and IGSF21-KLHDC7A gene
            polymorphisms and diabetic retinopathy of type 2 diabetes mellitus
            in the Chinese Han population
  JOURNAL   J Gene Med 18 (10), 282-287 (2016)
   PUBMED   27607899
  REMARK    GeneRIF: Results suggest that LEKR1-CCNL1 and IGSF21-KLHDC7A gene
            polymorphisms influence the development of diabetic retinopathy
            (DR).
REFERENCE   5  (residues 1 to 526)
  AUTHORS   Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA,
            Weisswange I, Mansfeld J, Buchholz F, Hyman AA and Mann M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   6  (residues 1 to 526)
  AUTHORS   Hu D, Mayeda A, Trembley JH, Lahti JM and Kidd VJ.
  TITLE     CDK11 complexes promote pre-mRNA splicing
  JOURNAL   J Biol Chem 278 (10), 8623-8629 (2003)
   PUBMED   12501247
REFERENCE   7  (residues 1 to 526)
  AUTHORS   Redon R, Hussenet T, Bour G, Caulee K, Jost B, Muller D, Abecassis
            J and du Manoir S.
  TITLE     Amplicon mapping and transcriptional analysis pinpoint cyclin L as
            a candidate oncogene in head and neck cancer
  JOURNAL   Cancer Res 62 (21), 6211-6217 (2002)
   PUBMED   12414649
REFERENCE   8  (residues 1 to 526)
  AUTHORS   Dickinson LA, Edgar AJ, Ehley J and Gottesfeld JM.
  TITLE     Cyclin L is an RS domain protein involved in pre-mRNA splicing
  JOURNAL   J Biol Chem 277 (28), 25465-25473 (2002)
   PUBMED   11980906
  REMARK    GeneRIF: role in pre-mRNA splicing
            GeneRIF: Cyclin L has been shown to associate with the PITSLRE
            kinase and is involved in pre-mRNA processing.
REFERENCE   9  (residues 1 to 526)
  AUTHORS   Berke JD, Sgambato V, Zhu PP, Lavoie B, Vincent M, Krause M and
            Hyman SE.
  TITLE     Dopamine and glutamate induce distinct striatal splice forms of
            Ania-6, an RNA polymerase II-associated cyclin
  JOURNAL   Neuron 32 (2), 277-287 (2001)
   PUBMED   11683997
REFERENCE   10 (residues 1 to 526)
  AUTHORS   Bunnell BA, Heath LS, Adams DE, Lahti JM and Kidd VJ.
  TITLE     Increased expression of a 58-kDa protein kinase leads to changes in
            the CHO cell cycle
  JOURNAL   Proc Natl Acad Sci U S A 87 (19), 7467-7471 (1990)
   PUBMED   2217177
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1991 Mar 15;88(6):2612]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104411.5.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC007081.1, AK022974.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295926.8/ ENSP00000295926.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..526
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.31"
     Protein         1..526
                     /product="cyclin-L1 isoform 1"
                     /note="cyclin L ania-6a; cyclin L gamma; cyclin-L"
                     /calculated_mol_wt=59503
     Region          1..36
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UK58.1)"
     Region          40..195
                     /region_name="CYCLIN_SF"
                     /note="Cyclin box fold superfamily; cl40454"
                     /db_xref="CDD:454757"
     Region          88..190
                     /region_name="Cyclin-like 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UK58.1)"
     Region          199..321
                     /region_name="CYCLIN_SF"
                     /note="Cyclin box fold superfamily; cl40454"
                     /db_xref="CDD:454757"
     Region          203..287
                     /region_name="Cyclin-like 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UK58.1)"
     Region          318..526
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UK58.1)"
     Site            325
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9UK58.1)"
     Site            335
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (Q9UK58.1)"
     Site            338
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9UK58.1)"
     Site            352
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9UK58.1)"
     Site            355
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UK58.1)"
     Site            374
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UK58.1)"
     Region          390..432
                     /region_name="RS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UK58.1)"
     Site            445
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9UK58.1)"
     CDS             1..526
                     /gene="CCNL1"
                     /gene_synonym="ania-6a; ANIA6A; BM-001; PRO1073"
                     /coded_by="NM_020307.4:54..1634"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS3178.1"
                     /db_xref="GeneID:57018"
                     /db_xref="HGNC:HGNC:20569"
                     /db_xref="MIM:613384"
ORIGIN      
        1 masgphstat aaaaassaap saggsssgtt tttttttggi ligdrlysev sltidhslip
       61 eerlsptpsm qdgldlpset dlrilgceli qaagillrlp qvamatgqvl fhrffysksf
      121 vkhsfeivam acinlaskie eaprrirdvi nvfhhlrqlr gkrtpsplil dqnyintknq
      181 vikaerrvlk elgfcvhvkh phkiivmylq vlecernqtl vqtawnymnd slrtnvfvrf
      241 qpetiacaci ylaaralqip lptrphwfll fgtteeeiqe icietlrlyt rkkpnyelle
      301 kevekrkval qeaklkakgl npdgtpalst lggfspaskp ssprevkaee kspisinvkt
      361 vkkepedrqq askspyngvr kdskrsrnsr sasrsrsrtr srsrshtprr hynnrrsrsg
      421 tyssrsrsrs rshsesprrh hnhgsphlka khtrddlkss nrhghkrkks rsrsqsksrd
      481 hsdaakkhrh erghhrdrre rsrsfershk skhhggsrsg hgrhrr
//
LOCUS       NP_001351515             867 aa            linear   PRI 27-DEC-2022
DEFINITION  peptidyl-glycine alpha-amidating monooxygenase isoform k precursor
            [Homo sapiens].
ACCESSION   NP_001351515 XP_024301845
VERSION     NP_001351515.1
DBSOURCE    REFSEQ: accession NM_001364586.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 867)
  AUTHORS   Sheng B, Wei H, Li Z, Wei H and Zhao Q.
  TITLE     PAM variants were associated with type 2 diabetes mellitus risk in
            the Chinese population
  JOURNAL   Funct Integr Genomics 22 (4), 525-535 (2022)
   PUBMED   35394266
  REMARK    GeneRIF: PAM variants were associated with type 2 diabetes mellitus
            risk in the Chinese population.
REFERENCE   2  (residues 1 to 867)
  AUTHORS   Barchiesi A, Bazzani V, Tolotto V, Elancheliyan P, Wasilewski M,
            Chacinska A and Vascotto C.
  TITLE     Mitochondrial Oxidative Stress Induces Rapid Intermembrane
            Space/Matrix Translocation of Apurinic/Apyrimidinic Endonuclease 1
            Protein through TIM23 Complex
  JOURNAL   J Mol Biol 432 (24), 166713 (2020)
   PUBMED   33197464
  REMARK    GeneRIF: Mitochondrial Oxidative Stress Induces Rapid Intermembrane
            Space/Matrix Translocation of Apurinic/Apyrimidinic Endonuclease 1
            Protein through TIM23 Complex.
REFERENCE   3  (residues 1 to 867)
  AUTHORS   Chen YC, Mains RE, Eipper BA, Hoffman BG, Czyzyk TA, Pintar JE and
            Verchere CB.
  TITLE     PAM haploinsufficiency does not accelerate the development of diet-
            and human IAPP-induced diabetes in mice
  JOURNAL   Diabetologia 63 (3), 561-576 (2020)
   PUBMED   31984442
  REMARK    GeneRIF: PAM haploinsufficiency does not accelerate the development
            of diet- and human IAPP-induced diabetes in mice.
            Erratum:[Diabetologia. 2020 May;63(5):1090. PMID: 32172312]
REFERENCE   4  (residues 1 to 867)
  AUTHORS   Desbois M, Crawley O, Evans PR, Baker ST, Masuho I, Yasuda R and
            Grill B.
  TITLE     PAM forms an atypical SCF ubiquitin ligase complex that
            ubiquitinates and degrades NMNAT2
  JOURNAL   J Biol Chem 293 (36), 13897-13909 (2018)
   PUBMED   29997255
  REMARK    GeneRIF: PAM polyubiquitinates NMNAT2 and regulates NMNAT2 protein
            stability and degradation by the proteasome.
REFERENCE   5  (residues 1 to 867)
  AUTHORS   Thomsen SK, Raimondo A, Hastoy B, Sengupta S, Dai XQ, Bautista A,
            Censin J, Payne AJ, Umapathysivam MM, Spigelman AF, Barrett A,
            Groves CJ, Beer NL, Manning Fox JE, McCarthy MI, Clark A, Mahajan
            A, Rorsman P, MacDonald PE and Gloyn AL.
  TITLE     Type 2 diabetes risk alleles in PAM impact insulin release from
            human pancreatic beta-cells
  JOURNAL   Nat Genet 50 (8), 1122-1131 (2018)
   PUBMED   30054598
  REMARK    GeneRIF: A role for PAM in beta-cell function.
            GeneRIF: The T2D risk-associated rs35658696 (p.Asp563Gly) allele of
            PAM confers reduced amidating activity.
            GeneRIF: siRNA-mediated knockdown of PAM in EndoC-BetaH1 cells
            caused reductions in insulin secretion and content. These effects
            were also observed in primary islets from human donors heterozygous
            for the T2D risk-associated rs35658696 variant.
            GeneRIF: The T2D risk-associated rs35658696 (p.Asp563Gly) allele of
            PAM confers decreased PAM expression in human islets.
REFERENCE   6  (residues 1 to 867)
  AUTHORS   Vos MD, Jones JE and Treston AM.
  TITLE     Human peptidylglycine alpha-amidating monooxygenase transcripts
            derived by alternative mRNA splicing of an unreported exon
  JOURNAL   Gene 163 (2), 307-311 (1995)
   PUBMED   7590286
REFERENCE   7  (residues 1 to 867)
  AUTHORS   Tsukamoto T, Noguchi M, Kayama H, Watanabe T, Asoh T and Yamamoto
            T.
  TITLE     Increased peptidylglycine alpha-amidating monooxygenase activity in
            cerebrospinal fluid of patients with multiple sclerosis
  JOURNAL   Intern Med 34 (4), 229-232 (1995)
   PUBMED   7606087
REFERENCE   8  (residues 1 to 867)
  AUTHORS   Mains RE, Milgram SL, Keutmann HT and Eipper BA.
  TITLE     The NH2-terminal proregion of peptidylglycine alpha-amidating
            monooxygenase facilitates the secretion of soluble proteins
  JOURNAL   Mol Endocrinol 9 (1), 3-13 (1995)
   PUBMED   7760848
REFERENCE   9  (residues 1 to 867)
  AUTHORS   Ouafik LH, Stoffers DA, Campbell TA, Johnson RC, Bloomquist BT,
            Mains RE and Eipper BA.
  TITLE     The multifunctional peptidylglycine alpha-amidating monooxygenase
            gene: exon/intron organization of catalytic, processing, and
            routing domains
  JOURNAL   Mol Endocrinol 6 (10), 1571-1584 (1992)
   PUBMED   1448112
REFERENCE   10 (residues 1 to 867)
  AUTHORS   Glauder J, Ragg H, Rauch J and Engels JW.
  TITLE     Human peptidylglycine alpha-amidating monooxygenase: cDNA, cloning
            and functional expression of a truncated form in COS cells
  JOURNAL   Biochem Biophys Res Commun 169 (2), 551-558 (1990)
   PUBMED   2357221
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008501.5, AC008779.5,
            AC113373.2 and AC010250.7.
            On Jun 22, 2018 this sequence version replaced XP_024301845.1.
            
            Summary: This gene encodes a multifunctional protein. The encoded
            preproprotein is proteolytically processed to generate the mature
            enzyme. This enzyme includes two domains with distinct catalytic
            activities, a peptidylglycine alpha-hydroxylating monooxygenase
            (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating
            lyase (PAL) domain. These catalytic domains work sequentially to
            catalyze the conversion of neuroendocrine peptides to active
            alpha-amidated products. Alternative splicing results in multiple
            transcript variants, at least one of which encodes an isoform that
            is proteolytically processed. [provided by RefSeq, Jan 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.92354.1,
                                           SRR1660807.68789.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..867
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q21.1"
     Protein         1..867
                     /product="peptidyl-glycine alpha-amidating monooxygenase
                     isoform k precursor"
                     /EC_number="1.14.17.3"
                     /EC_number="4.3.2.5"
                     /note="peptidyl alpha-amidating enzyme; peptidylglycine
                     2-hydroxylase; peptidylglycine alpha-hydroxylating
                     monooxygenase; peptidyl-alpha-hydroxyglycine
                     alpha-amidating lyase; pancreatic peptidylglycine
                     alpha-amidating monooxygenase; peptidylamidoglycolate
                     lyase"
                     /calculated_mol_wt=94274
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2074
     Region          59..168
                     /region_name="Cu2_monooxygen"
                     /note="Copper type II ascorbate-dependent monooxygenase,
                     N-terminal domain; pfam01082"
                     /db_xref="CDD:426035"
     Region          196..342
                     /region_name="Cu2_monoox_C"
                     /note="Copper type II ascorbate-dependent monooxygenase,
                     C-terminal domain; pfam03712"
                     /db_xref="CDD:427456"
     Region          393..700
                     /region_name="NHL_PAL_like"
                     /note="Peptidyl-alpha-hydroxyglycine alpha-amidating lyase
                     (PAL, EC 4.3.2.5); cd14958"
                     /db_xref="CDD:271328"
     Region          407..468
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271328"
     Site            order(410,477,528,677)
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:271328"
     Region          474..515
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271328"
     Region          526..564
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271328"
     Region          576..614
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271328"
     Region          622..667
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271328"
     Region          673..699
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271328"
     CDS             1..867
                     /gene="PAM"
                     /gene_synonym="PAL; PHM"
                     /coded_by="NM_001364586.2:418..3021"
                     /note="isoform k precursor is encoded by transcript
                     variant 13"
                     /db_xref="CCDS:CCDS93755.1"
                     /db_xref="GeneID:5066"
                     /db_xref="HGNC:HGNC:8596"
                     /db_xref="MIM:170270"
ORIGIN      
        1 magrvpsllv llvfpsscla frsplsvfkr fkettrpfsn eclgttrpvv pidssdfald
       61 irmpgvtpkq sdtyfcmsmr ipvdeeafvi dfkprasmdt vhhmllfgcn mpsstgsywf
      121 cdegtctdka nilyawarna pptrlpkgvg frvggetgsk yfvlqvhygd isafrdnnkd
      181 csgvslhltr lpqpliagmy lmmsvdtvip agekvvnsdi schyknypmh vfayrvhthh
      241 lgkvvsgyrv rngqwtligr qspqlpqafy pvghpvdvsf gdllaarcvf tgegrteath
      301 iggtssdemc nlyimyymea khavsfmtct qnvapdmfrt ippeanipip vksdmvmmhe
      361 hhketeykdk ipllqqpkre eeevldqdfh meealdwpgv yllpgqvsgv aldpknnlvi
      421 fhrgdhvwdg nsfdskfvyq qiglgpieed tilvidpnna avlqssgknl fylphglsid
      481 kdgnywvtdv alhqvfkldp nnkegpvlil grsmqpgsdq nhfcqptdva vdpgtgaiyv
      541 sdgycnsriv qfspsgkfit qwgeessgss plpgqftvph slalvpllgq lcvadrengr
      601 iqcfktdtke fvreikhssf grnvfaisyi pgllfavngk phfgdqepvq gfvmnfsnge
      661 iidifkpvrk hfdmphdiva sedgtvyigd ahtntvwkft lteklehrsv kkagievqei
      721 keaeavvetk menkptssel qkmqekqkli kepgsgvpvv littllvipv vvllaiaifi
      781 rwkksrafga dsehkletss grvlgrfrgk gsgglnlgnf fasrkgysrk gfdrlstegs
      841 dqekeddgse seeeysaplp alapsss
//
LOCUS       NP_001358938            1190 aa            linear   PRI 27-DEC-2022
DEFINITION  phospholipid-transporting ATPase ID isoform e [Homo sapiens].
ACCESSION   NP_001358938
VERSION     NP_001358938.1
DBSOURCE    REFSEQ: accession NM_001372009.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1190)
  AUTHORS   Ansari IU, Longacre MJ, Paulusma CC, Stoker SW, Kendrick MA and
            MacDonald MJ.
  TITLE     Characterization of P4 ATPase Phospholipid Translocases (Flippases)
            in Human and Rat Pancreatic Beta Cells: THEIR GENE SILENCING
            INHIBITS INSULIN SECRETION
  JOURNAL   J Biol Chem 290 (38), 23110-23123 (2015)
   PUBMED   26240149
  REMARK    GeneRIF: the predominant P4 ATPases in pure pancreatic beta cells
            and human and rat pancreatic islets were ATP8B1, ATP8B2, and ATP9A.
            ATP8B1 and CDC50A were highly concentrated in ISG
REFERENCE   2  (residues 1 to 1190)
  AUTHORS   Takatsu H, Tanaka G, Segawa K, Suzuki J, Nagata S, Nakayama K and
            Shin HW.
  TITLE     Phospholipid flippase activities and substrate specificities of
            human type IV P-type ATPases localized to the plasma membrane
  JOURNAL   J Biol Chem 289 (48), 33543-33556 (2014)
   PUBMED   25315773
  REMARK    Erratum:[J Biol Chem. 2016 Oct 7;291(41):21421. PMID: 27825076]
REFERENCE   3  (residues 1 to 1190)
  AUTHORS   Bryde S, Hennrich H, Verhulst PM, Devaux PF, Lenoir G and Holthuis
            JC.
  TITLE     CDC50 proteins are critical components of the human class-1
            P4-ATPase transport machinery
  JOURNAL   J Biol Chem 285 (52), 40562-40572 (2010)
   PUBMED   20961850
REFERENCE   4  (residues 1 to 1190)
  AUTHORS   van der Velden LM, Wichers CG, van Breevoort AE, Coleman JA, Molday
            RS, Berger R, Klomp LW and van de Graaf SF.
  TITLE     Heteromeric interactions required for abundance and subcellular
            localization of human CDC50 proteins and class 1 P4-ATPases
  JOURNAL   J Biol Chem 285 (51), 40088-40096 (2010)
   PUBMED   20947505
REFERENCE   5  (residues 1 to 1190)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   6  (residues 1 to 1190)
  AUTHORS   Paulusma CC and Oude Elferink RP.
  TITLE     The type 4 subfamily of P-type ATPases, putative aminophospholipid
            translocases with a role in human disease
  JOURNAL   Biochim Biophys Acta 1741 (1-2), 11-24 (2005)
   PUBMED   15919184
  REMARK    Review article
REFERENCE   7  (residues 1 to 1190)
  AUTHORS   Kuhlbrandt W.
  TITLE     Biology, structure and mechanism of P-type ATPases
  JOURNAL   Nat Rev Mol Cell Biol 5 (4), 282-295 (2004)
   PUBMED   15071553
  REMARK    Review article
REFERENCE   8  (residues 1 to 1190)
  AUTHORS   Harris MJ and Arias IM.
  TITLE     FIC1, a P-type ATPase linked to cholestatic liver disease, has
            homologues (ATP8B2 and ATP8B3) expressed throughout the body
  JOURNAL   Biochim Biophys Acta 1633 (2), 127-131 (2003)
   PUBMED   12880872
REFERENCE   9  (residues 1 to 1190)
  AUTHORS   Halleck MS, Lawler JF JR, Blackshaw S, Gao L, Nagarajan P, Hacker
            C, Pyle S, Newman JT, Nakanishi Y, Ando H, Weinstock D, Williamson
            P and Schlegel RA.
  TITLE     Differential expression of putative transbilayer amphipath
            transporters
  JOURNAL   Physiol Genomics 1 (3), 139-150 (1999)
   PUBMED   11015572
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 1190)
  AUTHORS   Abbott WM, Mellor A, Edwards Y and Feizi T.
  TITLE     Soluble bovine galactose-binding lectin. cDNA cloning reveals the
            complete amino acid sequence and an antigenic relationship with the
            major encephalitogenic domain of myelin basic protein
  JOURNAL   Biochem J 259 (1), 283-290 (1989)
   PUBMED   2470348
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162591.16.
            
            Summary: The protein encoded by this gene belongs to the family of
            P-type cation transport ATPases, and to the subfamily of
            aminophospholipid-transporting ATPases. The aminophospholipid
            translocases transport phosphatidylserine and
            phosphatidylethanolamine from one side of a bilayer to another.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY302537.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1190
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..1190
                     /product="phospholipid-transporting ATPase ID isoform e"
                     /EC_number="7.6.2.1"
                     /note="phospholipid-transporting ATPase ID; probable
                     phospholipid-transporting ATPase ID; ATPase, class I, type
                     8B, member 2; P4-ATPase flippase complex alpha subunit
                     ATP8B2; 36/8-9 fusion protein with epitope for anti-lectin
                     antibody; ATPase, aminophospholipid transporter, class I,
                     type 8B, member 2"
                     /calculated_mol_wt=135041
     Region          31..972
                     /region_name="P-type_ATPase_APLT_Dnf-like"
                     /note="Aminophospholipid translocases (APLTs), similar to
                     Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2,
                     -10D, -11B, -11C; cd02073"
                     /db_xref="CDD:319770"
     Site            order(392..394,537,560..562,627,674..676,788,791,794,814,
                     817)
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:319770"
     CDS             1..1190
                     /gene="ATP8B2"
                     /gene_synonym="ATPID"
                     /coded_by="NM_001372009.1:153..3725"
                     /note="isoform e is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1066.2"
                     /db_xref="GeneID:57198"
                     /db_xref="HGNC:HGNC:13534"
                     /db_xref="MIM:605867"
ORIGIN      
        1 mavcakkrpp eeerrarand reynekfqya snciktskyn iltflpvnlf eqfqevanty
       61 flfllilqli pqisslswft tivplvlvlt itavkdatdd yfrhksdnqv nnrqsqvlin
      121 gilqqeqwmn vcvgdiikle nnqfvaadll llsssephgl cyietaeldg etnmkvrqai
      181 pvtselgdis klakfdgevi ceppnnkldk fsgtlywken kfplsnqnml lrgcvlrnte
      241 wcfglvifag pdtklmqnsg rtkfkrtsid rlmntlvlwi fgflvcmgvi laignaiweh
      301 evgmrfqvyl pwdeavdsaf fsgflsfwsy iiilntvvpi slyvsvevir lghsyfinwd
      361 kkmfcmkkrt paeartttln eelgqveyif sdktgtltqn imvfnkcsin ghsygdvfdv
      421 lghkaelger pepvdfsfnp ladkkflfwd pslleavkig dphtheffrl lslchtvmse
      481 eknegelyyk aqspdegalv taarnfgfvf rsrtpktitv hemgtaityq llaildfnni
      541 rkrmsvivrn pegkirlyck gadtilldrl hhstqellnt tmdhlneyag eglrtlvlay
      601 kdldeeyyee waerrlqasl aqdsredrla siyeevennm mllgataied klqqgvpeti
      661 alltlaniki wvltgdkqet avnigysckm ltddmtevfi vtghtvlevr eelrkarekm
      721 mdssrsvgng ftyqdklsss kltsvleava geyalvingh slahaleadm elefletaca
      781 ckaviccrvt plqkaqvvel vkkykkavtl aigdgandvs miktahigvg isgqegiqav
      841 lasdysfsqf kflqrlllvh grwsylrmck flcyffyknf aftmvhfwfg ffcgfsaqtv
      901 ydqyfitlyn ivytslpvla mgvfdqdvpe qrsmeypkly epgqlnllfn krefficiaq
      961 giytsvlmff ipygvfadat rddgtqlady qsfavtvats lvivvsvqig ldtgywtain
     1021 hffiwgslav yfailfamhs nglfdmfpnq frfvgnaqnt laqptvwlti vlttvvcimp
     1081 vvafrflrln lkpdlsdtvr ytqlvrkkqk aqhrcmrrvg rtgsrrsgya fshqegfgel
     1141 imsgknmrls slalssfttr sssswieslr rkksdsassp sggadkplkg
//
LOCUS       NP_001295006             345 aa            linear   PRI 27-DEC-2022
DEFINITION  fetuin-B isoform 2 precursor [Homo sapiens].
ACCESSION   NP_001295006
VERSION     NP_001295006.1
DBSOURCE    REFSEQ: accession NM_001308077.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 345)
  AUTHORS   Wang D, Wu M, Zhang X, Li L, Lin M, Shi X, Zhao Y, Huang C and Li
            X.
  TITLE     Hepatokine Fetuin B expression is regulated by leptin-STAT3
            signalling and associated with leptin in obesity
  JOURNAL   Sci Rep 12 (1), 12869 (2022)
   PUBMED   35896788
  REMARK    GeneRIF: Hepatokine Fetuin B expression is regulated by
            leptin-STAT3 signalling and associated with leptin in obesity.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 345)
  AUTHORS   Zhan K, Liu R, Tong H, Gao S, Yang G, Hossain A, Li T and He W.
  TITLE     Fetuin B overexpression suppresses proliferation, migration, and
            invasion in prostate cancer by inhibiting the PI3K/AKT signaling
            pathway
  JOURNAL   Biomed Pharmacother 131, 110689 (2020)
   PUBMED   32892030
  REMARK    GeneRIF: Fetuin B overexpression suppresses proliferation,
            migration, and invasion in prostate cancer by inhibiting the
            PI3K/AKT signaling pathway.
REFERENCE   3  (residues 1 to 345)
  AUTHORS   Jung SH, Lee D, Jin H, Lee HM, Ko HM, Lee KJ, Kim SJ, Ryu Y, Choi
            WS, Kim B and Won KJ.
  TITLE     Fetuin-B regulates vascular plaque rupture via TGF-beta
            receptor-mediated Smad pathway in vascular smooth muscle cells
  JOURNAL   Pflugers Arch 472 (5), 571-581 (2020)
   PUBMED   32382986
  REMARK    GeneRIF: Fetuin-B regulates vascular plaque rupture via TGF-beta
            receptor-mediated Smad pathway in vascular smooth muscle cells.
REFERENCE   4  (residues 1 to 345)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 345)
  AUTHORS   Guevara T, Korschgen H, Cuppari A, Schmitz C, Kuske M, Yiallouros
            I, Floehr J, Jahnen-Dechent W, Stocker W and Gomis-Ruth FX.
  TITLE     The C-terminal region of human plasma fetuin-B is dispensable for
            the raised-elephant-trunk mechanism of inhibition of astacin
            metallopeptidases
  JOURNAL   Sci Rep 9 (1), 14683 (2019)
   PUBMED   31604990
  REMARK    GeneRIF: The C-terminal region of human plasma fetuin-B is
            dispensable for the raised-elephant-trunk mechanism of inhibition
            of astacin metallopeptidases.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 345)
  AUTHORS   Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ and
            Smith RD.
  TITLE     Human plasma N-glycoproteome analysis by immunoaffinity
            subtraction, hydrazide chemistry, and mass spectrometry
  JOURNAL   J Proteome Res 4 (6), 2070-2080 (2005)
   PUBMED   16335952
REFERENCE   7  (residues 1 to 345)
  AUTHORS   Wajih N, Borras T, Xue W, Hutson SM and Wallin R.
  TITLE     Processing and transport of matrix gamma-carboxyglutamic acid
            protein and bone morphogenetic protein-2 in cultured human vascular
            smooth muscle cells: evidence for an uptake mechanism for serum
            fetuin
  JOURNAL   J Biol Chem 279 (41), 43052-43060 (2004)
   PUBMED   15280384
  REMARK    GeneRIF: serum fetuin has a role in processing and transport of
            matrix gamma-carboxyglutamic acid protein and bone morphogenetic
            protein-2 in cultured human vascular smooth muscle cells
REFERENCE   8  (residues 1 to 345)
  AUTHORS   Hsu SJ, Nagase H and Balmain A.
  TITLE     Identification of Fetuin-B as a member of a cystatin-like gene
            family on mouse chromosome 16 with tumor suppressor activity
  JOURNAL   Genome 47 (5), 931-946 (2004)
   PUBMED   15499407
REFERENCE   9  (residues 1 to 345)
  AUTHORS   Denecke B, Graber S, Schafer C, Heiss A, Woltje M and
            Jahnen-Dechent W.
  TITLE     Tissue distribution and activity testing suggest a similar but not
            identical function of fetuin-B and fetuin-A
  JOURNAL   Biochem J 376 (Pt 1), 135-145 (2003)
   PUBMED   12943536
REFERENCE   10 (residues 1 to 345)
  AUTHORS   Olivier E, Soury E, Ruminy P, Husson A, Parmentier F, Daveau M and
            Salier JP.
  TITLE     Fetuin-B, a second member of the fetuin family in mammals
  JOURNAL   Biochem J 350 Pt 2 (Pt 2), 589-597 (2000)
   PUBMED   10947975
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC068631.16.
            
            Summary: The protein encoded by this gene is a member of the fetuin
            family, part of the cystatin superfamily of cysteine protease
            inhibitors. Fetuins have been implicated in several diverse
            functions, including osteogenesis and bone resorption, regulation
            of the insulin and hepatocyte growth factor receptors, and response
            to systemic inflammation. This protein may be secreted by cells.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY373820.1, SRR14038193.1341584.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155590, SAMEA2156670
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..345
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.3"
     Protein         1..345
                     /product="fetuin-B isoform 2 precursor"
                     /note="fetuin-like protein IRL685"
                     /calculated_mol_wt=36025
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1816
     Region          113..218
                     /region_name="CY"
                     /note="Cystatin-like domain; smart00043"
                     /db_xref="CDD:214484"
     Site            order(116,161..163,165)
                     /site_type="active"
                     /note="putative proteinase inhibition site [active]"
                     /db_xref="CDD:238002"
     CDS             1..345
                     /gene="FETUB"
                     /gene_synonym="16G2; Gugu; IRL685"
                     /coded_by="NM_001308077.4:63..1100"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS82884.1"
                     /db_xref="GeneID:26998"
                     /db_xref="HGNC:HGNC:3658"
                     /db_xref="MIM:605954"
ORIGIN      
        1 mglllplalc ilvlccgams ppqlalnpsa llsrgcndsd vlavagfalr dinkdrkdgy
       61 vlrlnrvnda qeyrrvygqc kaifymnnps rvlylaaync tlrpvskkki ymtcpdcpss
      121 iptdssnhqv leaateslak ynnentskqy slfkvtrass qwvvgpsyfv eylikespct
      181 ksqasscslq ssdsvpvglc kgsltrthwe kfvsvtcdff esqapatgse nsavnqkptn
      241 lpkveesqqk ntpptdspsk agprgsvqyl pdlddknsqe kgpqeafpvh ldlttnpqge
      301 tldisflfle pmeeklvvlp fpkekartae cpgpaqnasp lvlpp
//
LOCUS       NP_001372230             482 aa            linear   PRI 28-DEC-2022
DEFINITION  G protein-regulated inducer of neurite outgrowth 2 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001372230
VERSION     NP_001372230.1
DBSOURCE    REFSEQ: accession NM_001385301.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 482)
  AUTHORS   Khalilipour N, Baranova A, Jebelli A, Heravi-Moussavi A, Bruskin S
            and Abbaszadegan MR.
  TITLE     Familial Esophageal Squamous Cell Carcinoma with damaging
            rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes
  JOURNAL   Cancer Genet 221, 46-52 (2018)
   PUBMED   29405996
  REMARK    GeneRIF: Four of these 16 variants were rare damaging mutations
            including novel mutations in KCNJ12/KCNJ18, and GPRIN2 genes. This
            WES study in Iranian patients with ESCC, provides insight into the
            identification of novel germline mutations in familial ESCC. Our
            data suggest an association between specific mutations and
            increased risk of ESCC
REFERENCE   2  (residues 1 to 482)
  AUTHORS   Sokolina K, Kittanakom S, Snider J, Kotlyar M, Maurice P, Gandia J,
            Benleulmi-Chaachoua A, Tadagaki K, Oishi A, Wong V, Malty RH,
            Deineko V, Aoki H, Amin S, Yao Z, Morato X, Otasek D, Kobayashi H,
            Menendez J, Auerbach D, Angers S, Przulj N, Bouvier M, Babu M,
            Ciruela F, Jockers R, Jurisica I and Stagljar I.
  TITLE     Systematic protein-protein interaction mapping for clinically
            relevant human GPCRs
  JOURNAL   Mol Syst Biol 13 (3), 918 (2017)
   PUBMED   28298427
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 482)
  AUTHORS   Benzinger A, Muster N, Koch HB, Yates JR 3rd and Hermeking H.
  TITLE     Targeted proteomic analysis of 14-3-3 sigma, a p53 effector
            commonly silenced in cancer
  JOURNAL   Mol Cell Proteomics 4 (6), 785-795 (2005)
   PUBMED   15778465
REFERENCE   4  (residues 1 to 482)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD,
            Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird
            G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson
            T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan
            S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou
            T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore
            N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J,
            Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead
            SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T,
            Doucette-Stamm L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   5  (residues 1 to 482)
  AUTHORS   Iida N and Kozasa T.
  TITLE     Identification and biochemical analysis of GRIN1 and GRIN2
  JOURNAL   Methods Enzymol 390, 475-483 (2004)
   PUBMED   15488195
REFERENCE   6  (residues 1 to 482)
  AUTHORS   Chen LT, Gilman AG and Kozasa T.
  TITLE     A candidate target for G protein action in brain
  JOURNAL   J Biol Chem 274 (38), 26931-26938 (1999)
   PUBMED   10480904
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356056.22, AL645529.4 and AL732434.21.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.898281.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..482
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     Protein         1..482
                     /product="G protein-regulated inducer of neurite outgrowth
                     2 isoform 2"
                     /calculated_mol_wt=49933
     Region          373..474
                     /region_name="GRIN_C"
                     /note="G protein-regulated inducer of neurite outgrowth
                     C-terminus; pfam15235"
                     /db_xref="CDD:434557"
     CDS             1..482
                     /gene="GPRIN2"
                     /gene_synonym="GRIN2; KIAA0514"
                     /coded_by="NM_001385301.1:484..1932"
                     /note="isoform 2 is encoded by transcript variant 22"
                     /db_xref="GeneID:9721"
                     /db_xref="HGNC:HGNC:23730"
                     /db_xref="MIM:611240"
ORIGIN      
        1 mlneslmeka dawglslple leaamsssrp epgpwaplsp rlqplsqsss sllgegreqr
       61 pelrktasst vwqaqlgeas trpqapeeeg nppesmkpar asgpkarpsa gghwwsstvg
      121 nvstmggsdl crlrapsaaa mqrshsdlvr stqmrghsga rkaslscsal gsspvhraql
      181 qpggtsgqgg qapaglerdl apedetsnsa wmlgasqlsv ppldlgdtta hsssaqaepk
      241 aaeqlatttc halppaallc gmrevraggc chalpatgil afpklvasvs esglqaqhgv
      301 kihcrlsggl pghshccahl wgpaglvpep gsrtkdvwtm tsandlapae asplsaqdag
      361 vqaapvaack avatspslea paalhvfpev tlgssleevp spvrdvrwda egmtwevyga
      421 avdlevlgva iqkhlemqfe qlqrapased slsvegrrgp lravmqslrr psccgcsgaa
      481 pe
//
LOCUS       NP_001372905             819 aa            linear   PRI 29-DEC-2022
DEFINITION  protein FAM13B isoform 4 [Homo sapiens].
ACCESSION   NP_001372905
VERSION     NP_001372905.1
DBSOURCE    REFSEQ: accession NM_001385976.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 819)
  AUTHORS   Orvedahl A, Sumpter R Jr, Xiao G, Ng A, Zou Z, Tang Y, Narimatsu M,
            Gilpin C, Sun Q, Roth M, Forst CV, Wrana JL, Zhang YE, Luby-Phelps
            K, Xavier RJ, Xie Y and Levine B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   2  (residues 1 to 819)
  AUTHORS   Lai F, Godley LA, Joslin J, Fernald AA, Liu J, Espinosa R 3rd, Zhao
            N, Pamintuan L, Till BG, Larson RA, Qian Z and Le Beau MM.
  TITLE     Transcript map and comparative analysis of the 1.5-Mb commonly
            deleted segment of human 5q31 in malignant myeloid diseases with a
            del(5q)
  JOURNAL   Genomics 71 (2), 235-245 (2001)
   PUBMED   11161817
REFERENCE   3  (residues 1 to 819)
  AUTHORS   Lai F, Godley LA, Fernald AA, Orelli BJ, Pamintuan L, Zhao N and Le
            Beau MM.
  TITLE     cDNA cloning and genomic structure of three genes localized to
            human chromosome band 5q31 encoding potential nuclear proteins
  JOURNAL   Genomics 70 (1), 123-130 (2000)
   PUBMED   11087669
REFERENCE   4  (residues 1 to 819)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC113382.2 and AC106753.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.4008825.1,
                                           SRR14372080.3727016.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..819
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     Protein         1..819
                     /product="protein FAM13B isoform 4"
                     /note="family with sequence similarity 13, member B1;
                     GAP-like protein N61; protein FAM13B"
                     /calculated_mol_wt=93745
     Region          <1..87
                     /region_name="RhoGAP"
                     /note="GTPase-activator protein (GAP) for Rho-like
                     GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases.
                     Small GTPases (G proteins) cluster into distinct families,
                     and all act as molecular switches, active in their
                     GTP-bound form but inactive when bound to...; cl02570"
                     /db_xref="CDD:445838"
     Region          761..800
                     /region_name="RecQL4_SLD2_NTD"
                     /note="N-terminal homeodomain-like domain of metazoan RecQ
                     protein-like 4 (RecQL4), fungal DNA replication regulator
                     SLD2 and similar proteins; cd22289"
                     /db_xref="CDD:412085"
     CDS             1..819
                     /gene="FAM13B"
                     /gene_synonym="ARHGAP49; C5orf5; FAM13B1; KHCHP; N61"
                     /coded_by="NM_001385976.1:760..3219"
                     /note="isoform 4 is encoded by transcript variant 12"
                     /db_xref="GeneID:51306"
                     /db_xref="HGNC:HGNC:1335"
                     /db_xref="MIM:609371"
ORIGIN      
        1 mqlsqdynne defgrklrfl lqqlppvnys llkflcrfla nvashheeiw sanslaavfg
       61 pdvfhiytdv edmkeqeivs rimaglleny yeffeneeed fssndlssit eqvnelseee
      121 eedeklehie elpeegaeks ndmpevvqlr mtenilesns vtatsthisp isilpastdi
      181 lertiraave qhlfdlqssi dhdlknlqqq svvcnneaes ihcdgegsnn qidiaddiin
      241 asesnrdcsk pvastnldne amqqdcvfen eentqsvgil lepcsdrgds edgclereey
      301 llfdsdklsh lildssskic dlnantesev pggqsvgvqg eaacvsiphl dlknvsdgdk
      361 weascpitfp lidfktmhlq rdgeepfpaf kswqedsesg eaqlspqagr mnhhpleedc
      421 ppvlshrsld fgqsqrflhd pekldssska lsftrirrss fsskdekred rtpyqlvkkl
      481 qkkirqfeeq ferernskps ysdiaanpkv lkwmteltkl rkqikdakhk nsdgefvpqt
      541 rprsntlpks fgssldhede enedepkviq kekkpskeat lelilkrlke krierclped
      601 ikkmtkdhlv eekaslqksl lyyesqhgrp vtkeerhivk plydryrlvk qmltrasitp
      661 vlgspstkrr gqmlqpiieg etahffeeik eeeedgvnls selgdmlkta vqvqsslens
      721 esdveenqek laldlrlsss raasmpelle qlwkaraekk klrktlrefe eafyqqngrn
      781 aqkedrvpvl eeyreykkik aklrllevli skqdssksi
//
LOCUS       NP_002879                228 aa            linear   PRI 29-DEC-2022
DEFINITION  retinoic acid receptor responder protein 1 isoform 2 precursor
            [Homo sapiens].
ACCESSION   NP_002879
VERSION     NP_002879.2
DBSOURCE    REFSEQ: accession NM_002888.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 228)
  AUTHORS   Geng X, Chi K, Liu C, Fu Z, Wang X, Meng L, Wang H, Cai G, Chen X
            and Hong Q.
  TITLE     Interaction of RARRES1 with ICAM1 modulates macrophages to suppress
            the progression of kidney renal clear cell carcinoma
  JOURNAL   Front Immunol 13, 982045 (2022)
   PUBMED   36353618
  REMARK    GeneRIF: Interaction of RARRES1 with ICAM1 modulates macrophages to
            suppress the progression of kidney renal clear cell carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 228)
  AUTHORS   Ma L, Ma Y and Lian A.
  TITLE     Involvement of miR-769-5p/Retinoic Acid Receptor Responder 1 Axis
            in the Progression of Osteosarcoma: Characterization of Potential
            Therapeutic Targets
  JOURNAL   Pharmacology 107 (3-4), 179-187 (2022)
   PUBMED   35152215
  REMARK    GeneRIF: Involvement of miR-769-5p/Retinoic Acid Receptor Responder
            1 Axis in the Progression of Osteosarcoma: Characterization of
            Potential Therapeutic Targets.
REFERENCE   3  (residues 1 to 228)
  AUTHORS   Wang CH, Lu TJ, Wang LK, Wu CC, Chen ML, Kuo CY, Shyu RY and Tsai
            FM.
  TITLE     Tazarotene-induced gene 1 interacts with Polo-like kinase 2 and
            inhibits cell proliferation in HCT116 colorectal cancer cells
  JOURNAL   Cell Biol Int 45 (11), 2347-2356 (2021)
   PUBMED   34314079
  REMARK    GeneRIF: Tazarotene-induced gene 1 interacts with Polo-like kinase
            2 and inhibits cell proliferation in HCT116 colorectal cancer
            cells.
REFERENCE   4  (residues 1 to 228)
  AUTHORS   Chen A, Lee K and He JC.
  TITLE     Autocrine and paracrine effects of a novel podocyte gene, RARRES1
  JOURNAL   Kidney Int 100 (4), 745-747 (2021)
   PUBMED   34556297
  REMARK    GeneRIF: Autocrine and paracrine effects of a novel podocyte gene,
            RARRES1.
REFERENCE   5  (residues 1 to 228)
  AUTHORS   Wang CH, Wang LK, Wu CC, Chen ML, Kuo CY, Shyu RY and Tsai FM.
  TITLE     Cathepsin V Mediates the Tazarotene-induced Gene 1-induced
            Reduction in Invasion in Colorectal Cancer Cells
  JOURNAL   Cell Biochem Biophys 78 (4), 483-494 (2020)
   PUBMED   32918681
  REMARK    GeneRIF: Cathepsin V Mediates the Tazarotene-induced Gene 1-induced
            Reduction in Invasion in Colorectal Cancer Cells.
REFERENCE   6  (residues 1 to 228)
  AUTHORS   Youssef EM, Chen XQ, Higuchi E, Kondo Y, Garcia-Manero G, Lotan R
            and Issa JP.
  TITLE     Hypermethylation and silencing of the putative tumor suppressor
            Tazarotene-induced gene 1 in human cancers
  JOURNAL   Cancer Res 64 (7), 2411-2417 (2004)
   PUBMED   15059893
  REMARK    GeneRIF: Silencing of TIG1 promoter by hypermethylation is common
            in human cancers and may contribute to the loss of retinoic acid
            responsiveness in some neoplastic cells.
REFERENCE   7  (residues 1 to 228)
  AUTHORS   Zhang J, Liu L and Pfeifer GP.
  TITLE     Methylation of the retinoid response gene TIG1 in prostate cancer
            correlates with methylation of the retinoic acid receptor beta gene
  JOURNAL   Oncogene 23 (12), 2241-2249 (2004)
   PUBMED   14691453
REFERENCE   8  (residues 1 to 228)
  AUTHORS   Jing C, El-Ghany MA, Beesley C, Foster CS, Rudland PS, Smith P and
            Ke Y.
  TITLE     Tazarotene-induced gene 1 (TIG1) expression in prostate carcinomas
            and its relationship to tumorigenicity
  JOURNAL   J Natl Cancer Inst 94 (7), 482-490 (2002)
   PUBMED   11929948
REFERENCE   9  (residues 1 to 228)
  AUTHORS   Duvic M, Nagpal S, Asano AT and Chandraratna RA.
  TITLE     Molecular mechanisms of tazarotene action in psoriasis
  JOURNAL   J Am Acad Dermatol 37 (2 Pt 3), S18-S24 (1997)
   PUBMED   9270552
  REMARK    Review article
REFERENCE   10 (residues 1 to 228)
  AUTHORS   Nagpal S, Patel S, Asano AT, Johnson AT, Duvic M and Chandraratna
            RA.
  TITLE     Tazarotene-induced gene 1 (TIG1), a novel retinoic acid
            receptor-responsive gene in skin
  JOURNAL   J Invest Dermatol 106 (2), 269-274 (1996)
   PUBMED   8601727
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM919188.1, BC029640.1 and
            AC080013.17.
            On Apr 7, 2004 this sequence version replaced NP_002879.1.
            
            Summary: This gene was identified as a retinoid acid (RA)
            receptor-responsive gene. It encodes a type 1 membrane protein. The
            expression of this gene is upregulated by tazarotene as well as by
            retinoic acid receptors. The expression of this gene is found to be
            downregulated in prostate cancer, which is caused by the
            methylation of its promoter and CpG island. Alternatively spliced
            transcript variant encoding distinct isoforms have been observed.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 3' end-region
            compared to variant 1. The resulting isoform (2) has a distinct and
            shorter C-terminus, as compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BG484662.1, U27185.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2142670,
                                           SAMEA2147920 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..228
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.32"
     Protein         1..228
                     /product="retinoic acid receptor responder protein 1
                     isoform 2 precursor"
                     /note="latexin-like; phorbol ester-induced gene 1 protein;
                     retinoic acid receptor responder protein 1; RAR-responsive
                     protein TIG1; retinoic acid receptor responder (tazarotene
                     induced) 1; tazarotene-induced gene 1 protein"
                     /calculated_mol_wt=21578
     sig_peptide     1..41
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=4252
     Site            21..42
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P49788.2)"
     Region          52..>227
                     /region_name="Latexin"
                     /note="pfam06907"
                     /db_xref="CDD:429186"
     CDS             1..228
                     /gene="RARRES1"
                     /gene_synonym="LXNL; PERG-1; TIG1"
                     /coded_by="NM_002888.4:43..729"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS54665.1"
                     /db_xref="GeneID:5918"
                     /db_xref="HGNC:HGNC:9867"
                     /db_xref="MIM:605090"
ORIGIN      
        1 mqprrqrlpa pwsgprgprp tapllallll lapvaapags gdpddpgqpq dagvprrllq
       61 qaaraalhff nfrsgspsal rvlaevqegr awinpkegck vhvvfstery npesllqege
      121 grlgkcsarv ffknqkprpt invtctrlie kkkrqqedyl lykqmkqlkn pleivsipdn
      181 hghidpslrl iwdlaflgss yvmwemttqv shyylaqlts vrqwvrkt
//
LOCUS       NP_001245318             158 aa            linear   PRI 29-DEC-2022
DEFINITION  ATP synthase subunit C lysine N-methyltransferase isoform 3 [Homo
            sapiens].
ACCESSION   NP_001245318
VERSION     NP_001245318.1
DBSOURCE    REFSEQ: accession NM_001258389.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 158)
  AUTHORS   Palada V, Siddiqah Ahmed A, Hugo A, Radojcic MR, Svensson CI and
            Kosek E.
  TITLE     Expression of mitochondrial TSPO and FAM173B is associated with
            inflammation and symptoms in patients with painful knee
            osteoarthritis
  JOURNAL   Rheumatology (Oxford) 60 (4), 1724-1733 (2021)
   PUBMED   33067627
  REMARK    GeneRIF: Expression of mitochondrial TSPO and FAM173B is associated
            with inflammation and symptoms in patients with painful knee
            osteoarthritis.
REFERENCE   2  (residues 1 to 158)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 158)
  AUTHORS   Malecki JM, Willemen HLDM, Pinto R, Ho AYY, Moen A, Kjonstad IF,
            Burgering BMT, Zwartkruis F, Eijkelkamp N and Falnes PO.
  TITLE     Lysine methylation by the mitochondrial methyltransferase FAM173B
            optimizes the function of mitochondrial ATP synthase
  JOURNAL   J Biol Chem 294 (4), 1128-1141 (2019)
   PUBMED   30530489
  REMARK    GeneRIF: It has been identified FAM173B as the long-sought KMT
            responsible for methylation of ATP synthase c-subunit (ATPSc), a
            key protein in cellular ATP production, and have demonstrated
            functional significance of ATPSc methylation.
REFERENCE   4  (residues 1 to 158)
  AUTHORS   Willemen HLDM, Kavelaars A, Prado J, Maas M, Versteeg S, Nellissen
            LJJ, Tromp J, Gonzalez Cano R, Zhou W, Jakobsson ME, Malecki J,
            Posthuma G, Habib AM, Heijnen CJ, Falnes PO and Eijkelkamp N.
  TITLE     Identification of FAM173B as a protein methyltransferase promoting
            chronic pain
  JOURNAL   PLoS Biol 16 (2), e2003452 (2018)
   PUBMED   29444090
  REMARK    GeneRIF: we uncover a role for methyltransferase activity of
            FAM173B in the neurobiology of pain. These results also highlight
            FAM173B methyltransferase activity as a potential therapeutic
            target to treat debilitating chronic pain conditions
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 158)
  AUTHORS   Peters MJ, Broer L, Willemen HL, Eiriksdottir G, Hocking LJ,
            Holliday KL, Horan MA, Meulenbelt I, Neogi T, Popham M, Schmidt CO,
            Soni A, Valdes AM, Amin N, Dennison EM, Eijkelkamp N, Harris TB,
            Hart DJ, Hofman A, Huygen FJ, Jameson KA, Jones GT, Launer LJ,
            Kerkhof HJ, de Kruijf M, McBeth J, Kloppenburg M, Ollier WE, Oostra
            B, Payton A, Rivadeneira F, Smith BH, Smith AV, Stolk L, Teumer A,
            Thomson W, Uitterlinden AG, Wang K, van Wingerden SH, Arden NK,
            Cooper C, Felson D, Gudnason V, Macfarlane GJ, Pendleton N,
            Slagboom PE, Spector TD, Volzke H, Kavelaars A, van Duijn CM,
            Williams FM and van Meurs JB.
  TITLE     Genome-wide association study meta-analysis of chronic widespread
            pain: evidence for involvement of the 5p15.2 region
  JOURNAL   Ann Rheum Dis 72 (3), 427-436 (2013)
   PUBMED   22956598
REFERENCE   6  (residues 1 to 158)
  AUTHORS   Lam AK, Gopalan V, Nassiri MR, Kasim K, Dissanayake J, Tang JC and
            Smith RA.
  TITLE     Altered JS-2 expression in colorectal cancers and its clinical
            pathological relevance
  JOURNAL   Mol Oncol 5 (5), 475-481 (2011)
   PUBMED   21802380
  REMARK    GeneRIF: Genetic alteration of JS-2 was found to be related to
            location, pathological subtypes and staging of colorectal cancer.
REFERENCE   7  (residues 1 to 158)
  AUTHORS   Kim YC, Wu Q, Chen J, Xuan Z, Jung YC, Zhang MQ, Rowley JD and Wang
            SM.
  TITLE     The transcriptome of human CD34+ hematopoietic stem-progenitor
            cells
  JOURNAL   Proc Natl Acad Sci U S A 106 (20), 8278-8283 (2009)
   PUBMED   19416867
REFERENCE   8  (residues 1 to 158)
  AUTHORS   Fatima S, Chui CH, Tang WK, Hui KS, Au HW, Li WY, Wong MM, Cheung
            F, Tsao SW, Lam KY, Beh PS, Wong J, Law S, Srivastava G, Ho KP,
            Chan AS and Tang JC.
  TITLE     Transforming capacity of two novel genes JS-1 and JS-2 located in
            chromosome 5p and their overexpression in human esophageal squamous
            cell carcinoma
  JOURNAL   Int J Mol Med 17 (1), 159-170 (2006)
   PUBMED   16328025
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA523490.1 and AC034229.4.
            
            Transcript Variant: This variant (3) uses an alternate splice site
            in the coding region, which results in a frameshift, compared to
            variant 1. The encoded isoform (3) is shorter and has a distinct
            C-terminus, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1432022.1,
                                           SRR14038193.2765998.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155371 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..158
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.2"
     Protein         1..158
                     /product="ATP synthase subunit C lysine
                     N-methyltransferase isoform 3"
                     /note="protein FAM173B; family with sequence similarity
                     173 member B; protein N-lysine methyltransferase FAM173B;
                     ATP synthase subunit C lysine N-methyltransferase"
                     /calculated_mol_wt=17238
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q6P4H8.2)"
     Site            38..58
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P4H8.2)"
     Region          56..90
                     /region_name="Required for mitochondrial location.
                     /evidence=ECO:0000269|PubMed:30530489"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P4H8.2)"
     Region          88..>123
                     /region_name="AdoMet_MTases"
                     /note="S-adenosylmethionine-dependent methyltransferases
                     (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes
                     that use S-adenosyl-L-methionine (SAM or AdoMet) as a
                     substrate for methyltransfer, creating the product
                     S-adenosyl-L-homocysteine (AdoHcy); cl17173"
                     /db_xref="CDD:450167"
     CDS             1..158
                     /gene="ATPSCKMT"
                     /gene_synonym="FAM173B; hFAM173B; JS-2"
                     /coded_by="NM_001258389.2:16..492"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:134145"
                     /db_xref="HGNC:HGNC:27029"
                     /db_xref="MIM:618568"
ORIGIN      
        1 meggggiple tlkeesqsrh vlpasfevns lqksnwgfll tglvggtlva vyavatpfvt
       61 palrkvclpf vpattkqien vvkmlrcrrg slvdigsgdg riviaaakkg ftavgyelnp
      121 wlvwysryra wregyffavl ercyfrcasd daavgeet
//
LOCUS       NP_001005200             312 aa            linear   PRI 29-DEC-2022
DEFINITION  olfactory receptor 8H2 [Homo sapiens].
ACCESSION   NP_001005200 XP_372390
VERSION     NP_001005200.1
DBSOURCE    REFSEQ: accession NM_001005200.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 312)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC068339.6.
            On Sep 22, 2004 this sequence version replaced XP_372390.1.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..312
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     Protein         1..312
                     /product="olfactory receptor 8H2"
                     /note="olfactory receptor OR11-171"
                     /calculated_mol_wt=35291
     Site            6
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N162.1)"
     Region          26..303
                     /region_name="7tmA_OR8H-like"
                     /note="olfactory receptor subfamily 8H and related
                     proteins, member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15411"
                     /db_xref="CDD:320533"
     Region          27..53
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320533"
     Site            27..47
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N162.1)"
     Site            56..76
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N162.1)"
     Region          60..86
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320533"
     Site            order(82,85..86,97..102,104..105,108,153,155..159,195,
                     198..200,202..204,206..207,252,255..256,258..259,262,
                     268..269,271..273,276,279..280)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320533"
     Region          97..127
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320533"
     Site            100..120
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N162.1)"
     Region          140..161
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320533"
     Site            140..160
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N162.1)"
     Region          195..225
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320533"
     Site            198..217
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N162.1)"
     Region          232..262
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320533"
     Site            238..258
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N162.1)"
     Region          269..294
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320533"
     Site            272..292
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N162.1)"
     CDS             1..312
                     /gene="OR8H2"
                     /gene_synonym="OR11-171"
                     /coded_by="NM_001005200.2:477..1415"
                     /db_xref="CCDS:CCDS31518.1"
                     /db_xref="GeneID:390151"
                     /db_xref="HGNC:HGNC:15308"
ORIGIN      
        1 mmgrrnntnv adfilmgltl seeiqmalfm lflliylitm lgnvgmilii rldlqlhtpm
       61 yfflthlsfi dlsystvvtp ktlanlltsn yisftgcfaq mfffaflgta ecyllssmah
      121 dryaaicspl hytvimskrl clalitgpyv igfidsfvnv vsmsrlhfyd snvihhffcd
      181 tspilalsct dtynteilif iivgstlmvs lftisasyvf ilftilkins tsgkqkafst
      241 cvshllgvti fystliftyl kprksyslgr dqvasvfyti vipvlnpliy slrnkevkna
      301 virvmqrrqd sr
//
LOCUS       NP_001156467              77 aa            linear   PRI 30-DEC-2022
DEFINITION  small integral membrane protein 5 [Homo sapiens].
ACCESSION   NP_001156467
VERSION     NP_001156467.1
DBSOURCE    REFSEQ: accession NM_001162995.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 77)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 77)
  AUTHORS   Zodro E, Jaroszewski M, Ida A, Wrzesinski T, Kwias Z, Bluyssen H
            and Wesoly J.
  TITLE     FUT11 as a potential biomarker of clear cell renal cell carcinoma
            progression based on meta-analysis of gene expression data
  JOURNAL   Tumour Biol 35 (3), 2607-2617 (2014)
   PUBMED   24318988
REFERENCE   3  (residues 1 to 77)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human RPE/choroid for the
            NEIBank Project: over 6000 non-redundant transcripts, novel genes
            and splice variants
  JOURNAL   Mol Vis 8, 205-220 (2002)
   PUBMED   12107410
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC027861.1, BI712658.1 and CA413024.1.
            
            Transcript Variant: This variant (1) encodes the functional
            protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC027861.1, SRR3476690.462807.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375215.3/ ENSP00000364363.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..77
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     Protein         1..77
                     /product="small integral membrane protein 5"
                     /calculated_mol_wt=8409
     Region          5..75
                     /region_name="CASIMO1_SMIM5"
                     /note="small integral membrane protein 5 (SMIM5) of
                     CASIMO1; cd20254"
                     /db_xref="CDD:380776"
     Site            32..52
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q71RC9.2)"
     CDS             1..77
                     /gene="SMIM5"
                     /gene_synonym="C17orf109; PP12104"
                     /coded_by="NM_001162995.3:806..1039"
                     /db_xref="CCDS:CCDS54165.1"
                     /db_xref="GeneID:643008"
                     /db_xref="HGNC:HGNC:40030"
ORIGIN      
        1 maatdfvqem ravgerlllk lqrlpqaepv eivafsviil ftatvlllll iacscccthc
       61 ccperrgrkv qvqptpp
//
LOCUS       NP_001353258             362 aa            linear   PRI 30-DEC-2022
DEFINITION  T-complex protein 11 homolog isoform 9 [Homo sapiens].
ACCESSION   NP_001353258 XP_011513133
VERSION     NP_001353258.1
DBSOURCE    REFSEQ: accession NM_001366329.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 362)
  AUTHORS   Liu Y, Jiang M, Li C, Yang P, Sun H, Tao D, Zhang S and Ma Y.
  TITLE     Human t-complex protein 11 (TCP11), a testis-specific gene product,
            is a potential determinant of the sperm morphology
  JOURNAL   Tohoku J Exp Med 224 (2), 111-117 (2011)
   PUBMED   21597245
  REMARK    GeneRIF: These results suggest that TCP11 may be responsible for
            sperm tail morphology and motility.
REFERENCE   2  (residues 1 to 362)
  AUTHORS   Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM,
            Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML,
            Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI,
            Hakonarson H and Grant SF.
  TITLE     The role of height-associated loci identified in genome wide
            association studies in the determination of pediatric stature
  JOURNAL   BMC Med Genet 11, 96 (2010)
   PUBMED   20546612
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 362)
  AUTHORS   Gudbjartsson DF, Walters GB, Thorleifsson G, Stefansson H,
            Halldorsson BV, Zusmanovich P, Sulem P, Thorlacius S, Gylfason A,
            Steinberg S, Helgadottir A, Ingason A, Steinthorsdottir V,
            Olafsdottir EJ, Olafsdottir GH, Jonsson T, Borch-Johnsen K, Hansen
            T, Andersen G, Jorgensen T, Pedersen O, Aben KK, Witjes JA,
            Swinkels DW, den Heijer M, Franke B, Verbeek AL, Becker DM, Yanek
            LR, Becker LC, Tryggvadottir L, Rafnar T, Gulcher J, Kiemeney LA,
            Kong A, Thorsteinsdottir U and Stefansson K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
REFERENCE   4  (residues 1 to 362)
  AUTHORS   Ma YX, Zhang SZ, Wu QQ, Sun Y, Qiu WM and Xu WM.
  TITLE     [Cloning, expression, and alternative splicing of the novel isoform
            of hTCP11 gene]
  JOURNAL   Zhongguo Yi Xue Ke Xue Yuan Xue Bao 25 (2), 122-128 (2003)
   PUBMED   12905703
REFERENCE   5  (residues 1 to 362)
  AUTHORS   Ma YX, Zhang SZ, Wu QQ and Sun Y.
  TITLE     [Cloning, expression and alternative splicing of a novel isoform of
            human TCP11b gene]
  JOURNAL   Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai) 35 (2),
            182-188 (2003)
   PUBMED   12545228
REFERENCE   6  (residues 1 to 362)
  AUTHORS   Ma Y, Zhang S, Xia Q, Zhang G, Huang X, Huang M, Xiao C, Pan A, Sun
            Y, Lebo R and Milunsky A.
  TITLE     Molecular characterization of the TCP11 gene which is the human
            homologue of the mouse gene encoding the receptor of fertilization
            promoting peptide
  JOURNAL   Mol Hum Reprod 8 (1), 24-31 (2002)
   PUBMED   11756566
  REMARK    GeneRIF: Results suggest that TCP11 gene is important in sperm
            function and fertility.
REFERENCE   7  (residues 1 to 362)
  AUTHORS   Fraser LR, Hosseini R, Hanyalogou A, Talmor A and Dudley RK.
  TITLE     TCP-11, the product of a mouse t-complex gene, plays a role in
            stimulation of capacitation and inhibition of the spontaneous
            acrosome reaction
  JOURNAL   Mol Reprod Dev 48 (3), 375-382 (1997)
   PUBMED   9322250
REFERENCE   8  (residues 1 to 362)
  AUTHORS   Ragoussis J, Senger G, Mockridge I, Sanseau P, Ruddy S, Dudley K,
            Sheer D and Trowsdale J.
  TITLE     A testis-expressed Zn finger gene (ZNF76) in human 6p21.3
            centromeric to the MHC is closely linked to the human homolog of
            the t-complex gene tcp-11
  JOURNAL   Genomics 14 (3), 673-679 (1992)
   PUBMED   1427894
REFERENCE   9  (residues 1 to 362)
  AUTHORS   Mazarakis ND, Nelki D, Lyon MF, Ruddy S, Evans EP, Freemont P and
            Dudley K.
  TITLE     Isolation and characterisation of a testis-expressed
            developmentally regulated gene from the distal inversion of the
            mouse t-complex
  JOURNAL   Development 111 (2), 561-571 (1991)
   PUBMED   1893875
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL138721.16.
            On Sep 29, 2018 this sequence version replaced XP_011513133.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.182434.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..362
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     Protein         1..362
                     /product="T-complex protein 11 homolog isoform 9"
                     /note="t-complex 11 (a murine tcp homolog); T-complex
                     protein 11 homolog; t-complex 11 homolog;
                     fertilization-promoting peptide receptor; t-complex 11,
                     testis-specific; testis secretory sperm-binding protein Li
                     222n"
                     /calculated_mol_wt=40304
     Region          <1..346
                     /region_name="Tcp11"
                     /note="T-complex protein 11; pfam05794"
                     /db_xref="CDD:428628"
     CDS             1..362
                     /gene="TCP11"
                     /gene_synonym="D6S230E; FPPR"
                     /coded_by="NM_001366329.2:340..1428"
                     /note="isoform 9 is encoded by transcript variant 14"
                     /db_xref="GeneID:6954"
                     /db_xref="HGNC:HGNC:11658"
                     /db_xref="MIM:186982"
ORIGIN      
        1 mdllkqeaeh galkvlylsk yvlnmmallc apvrdeavqk lenitdpvwl lrgifqvlgr
       61 mkmdmvnyti qslqphlqeh siqyerakfq ellnkqpsll nhttkwltqa agdltmsppt
      121 cpdtsdsssv agpspneaan npeplsptmv lcqgflnlll wdleneefpe tllmdrtrlq
      181 elksqlhqlt vmasvllvas sfsgsvlfgs pqfvdklkri tkslledfhs rpeeailtvs
      241 eqvsqeihqs lknmglvals sdntaslmgq lqniakkenc vcsvidqrih lflkcclvlg
      301 vqrslldlpg gltlieaela elgqkfvnlt hhnqqvfgpy yteilktlis paqaletkve
      361 sv
//
LOCUS       NP_001161396             261 aa            linear   PRI 30-DEC-2022
DEFINITION  protein CMSS1 isoform 2 [Homo sapiens].
ACCESSION   NP_001161396
VERSION     NP_001161396.1
DBSOURCE    REFSEQ: accession NM_001167924.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 261)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 261)
  AUTHORS   Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V,
            MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG,
            Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ,
            Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E,
            Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell
            CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R,
            Tay WT, Zheng Y, Chew M, Burdon KP, Craig JE, Iyengar SK, Igo RP
            Jr, Lass JH Jr, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja
            J, Simpson CL, Wojciechowski R, Hohn R, Mirshahi A, Zeller T,
            Pfeiffer N, Lackner KJ, Bettecken T, Meitinger T, Oexle K, Pirastu
            M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE,
            Hosseini SM, Paterson AD, Makela KM, Lehtimaki T, Kahonen M,
            Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap
            MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai
            ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A,
            Uitterlinden AG, Bencic G, Khor CC, Forward H, Parssinen O,
            Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo
            YY, Hammond CJ, Stambolian D, Mackey DA, Klaver CC, Wong TY, Saw SM
            and Baird PN.
  CONSRTM   Consortium for Refractive Error and Myopia; Fuchs' Genetics
            Multi-Center Study Group; Wellcome Trust Case Control Consortium 2;
            Diabetes Control and Complications Trial/Epidemiology of Diabetes
            Interventions, and Complications Research Group
  TITLE     Nine loci for ocular axial length identified through genome-wide
            association studies, including shared loci with refractive error
  JOURNAL   Am J Hum Genet 93 (2), 264-277 (2013)
   PUBMED   24144296
REFERENCE   3  (residues 1 to 261)
  AUTHORS   Ludwig KU, Mangold E, Herms S, Nowak S, Reutter H, Paul A, Becker
            J, Herberz R, AlChawa T, Nasser E, Bohmer AC, Mattheisen M, Alblas
            MA, Barth S, Kluck N, Lauster C, Braumann B, Reich RH, Hemprich A,
            Potzsch S, Blaumeiser B, Daratsianos N, Kreusch T, Murray JC,
            Marazita ML, Ruczinski I, Scott AF, Beaty TH, Kramer FJ, Wienker
            TF, Steegers-Theunissen RP, Rubini M, Mossey PA, Hoffmann P, Lange
            C, Cichon S, Propping P, Knapp M and Nothen MM.
  TITLE     Genome-wide meta-analyses of nonsyndromic cleft lip with or without
            cleft palate identify six new risk loci
  JOURNAL   Nat Genet 44 (9), 968-971 (2012)
   PUBMED   22863734
REFERENCE   4  (residues 1 to 261)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   5  (residues 1 to 261)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   6  (residues 1 to 261)
  AUTHORS   Jung HM, Choi SJ and Kim JK.
  TITLE     Expression profiles of SV40-immortalization-associated genes
            upregulated in various human cancers
  JOURNAL   J Cell Biochem 106 (4), 703-713 (2009)
   PUBMED   19160420
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK300704.1 and AC129803.3.
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at an
            alternate start codon, compared to variant 1. The encoded isoform
            (2) has a distinct N-terminus and is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK300704.1, SRR5189655.138538.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2149398
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..261
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q12.1"
     Protein         1..261
                     /product="protein CMSS1 isoform 2"
                     /note="protein CMSS1"
                     /calculated_mol_wt=29833
     Region          43..243
                     /region_name="DEAD-like_helicase_N"
                     /note="N-terminal helicase domain of the DEAD-box helicase
                     superfamily; cl28899"
                     /db_xref="CDD:452890"
     CDS             1..261
                     /gene="CMSS1"
                     /gene_synonym="C3orf26"
                     /coded_by="NM_001167924.2:57..842"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS54618.1"
                     /db_xref="GeneID:84319"
                     /db_xref="HGNC:HGNC:28666"
ORIGIN      
        1 mhgeasdgeg egdtevmqqe tvpvpvpsek tkqpkecfli qpkerkentt ktrkrrkkki
       61 tdvlaksepk pglpedlqkl mkdyyssrrl vieleelnlp dscflkandl thslssylke
      121 icpkwvklrk nhsekksvlm liicssavra lelirsmtaf rgdgkviklf akhikvqaqv
      181 kllekrvvhl gvgtpgrike lvkqgglnls plkflvfdwn wrdqklrrmm dipeirkevf
      241 ellemgvlsl ckseslklgl f
//
LOCUS       NP_001310523             269 aa            linear   PRI 30-DEC-2022
DEFINITION  cytosolic Fe-S cluster assembly factor NUBP1 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001310523
VERSION     NP_001310523.1
DBSOURCE    REFSEQ: accession NM_001323594.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 269)
  AUTHORS   Camponeschi F, Prusty NR, Heider SAE, Ciofi-Baffoni S and Banci L.
  TITLE     GLRX3 Acts as a [2Fe-2S] Cluster Chaperone in the Cytosolic
            Iron-Sulfur Assembly Machinery Transferring [2Fe-2S] Clusters to
            NUBP1
  JOURNAL   J Am Chem Soc 142 (24), 10794-10805 (2020)
   PUBMED   32429669
  REMARK    GeneRIF: GLRX3 Acts as a [2Fe-2S] Cluster Chaperone in the
            Cytosolic Iron-Sulfur Assembly Machinery Transferring [2Fe-2S]
            Clusters to NUBP1.
REFERENCE   2  (residues 1 to 269)
  AUTHORS   Hosgood HD 3rd, Menashe I, He X, Chanock S and Lan Q.
  TITLE     PTEN identified as important risk factor of chronic obstructive
            pulmonary disease
  JOURNAL   Respir Med 103 (12), 1866-1870 (2009)
   PUBMED   19625176
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 269)
  AUTHORS   Shen M, Vermeulen R, Rajaraman P, Menashe I, He X, Chapman RS,
            Yeager M, Thomas G, Burdett L, Hutchinson A, Yuenger J, Chanock S
            and Lan Q.
  TITLE     Polymorphisms in innate immunity genes and lung cancer risk in
            Xuanwei, China
  JOURNAL   Environ Mol Mutagen 50 (4), 285-290 (2009)
   PUBMED   19170196
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   4  (residues 1 to 269)
  AUTHORS   Hosgood HD 3rd, Menashe I, Shen M, Yeager M, Yuenger J, Rajaraman
            P, He X, Chatterjee N, Caporaso NE, Zhu Y, Chanock SJ, Zheng T and
            Lan Q.
  TITLE     Pathway-based evaluation of 380 candidate genes and lung cancer
            susceptibility suggests the importance of the cell cycle pathway
  JOURNAL   Carcinogenesis 29 (10), 1938-1943 (2008)
   PUBMED   18676680
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 269)
  AUTHORS   Stehling O, Netz DJ, Niggemeyer B, Rosser R, Eisenstein RS, Puccio
            H, Pierik AJ and Lill R.
  TITLE     Human Nbp35 is essential for both cytosolic iron-sulfur protein
            assembly and iron homeostasis
  JOURNAL   Mol Cell Biol 28 (17), 5517-5528 (2008)
   PUBMED   18573874
  REMARK    GeneRIF: The cytosolic soluble P-loop NTPase termed huNbp35 (also
            known as Nubp1) was identified as an Fe/S protein, and its role in
            the maturation of Fe/S proteins in HeLa cells, is defined.
REFERENCE   6  (residues 1 to 269)
  AUTHORS   Taniguchi N, Taniura H, Niinobe M, Takayama C, Tominaga-Yoshino K,
            Ogura A and Yoshikawa K.
  TITLE     The postmitotic growth suppressor necdin interacts with a
            calcium-binding protein (NEFA) in neuronal cytoplasm
  JOURNAL   J Biol Chem 275 (41), 31674-31681 (2000)
   PUBMED   10915798
REFERENCE   7  (residues 1 to 269)
  AUTHORS   Nakashima H, Grahovac MJ, Mazzarella R, Fujiwara H, Kitchen JR,
            Threat TA and Ko MS.
  TITLE     Two novel mouse genes--Nubp2, mapped to the t-complex on chromosome
            17, and Nubp1, mapped to chromosome 16--establish a new gene family
            of nucleotide-binding proteins in eukaryotes
  JOURNAL   Genomics 60 (2), 152-160 (1999)
   PUBMED   10486206
REFERENCE   8  (residues 1 to 269)
  AUTHORS   Shahrestanifar M, Saha DP, Scala LA, Basu A and Howells RD.
  TITLE     Cloning of a human cDNA encoding a putative nucleotide-binding
            protein related to Escherichia coli MinD
  JOURNAL   Gene 147 (2), 281-285 (1994)
   PUBMED   7926816
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC074136.4.
            
            Summary: NUBP1 is a member of the NUBP/MRP subfamily of ATP-binding
            proteins (Nakashima et al., 1999 [PubMed 10486206]).[supplied by
            OMIM, Mar 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.97983.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..269
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.13"
     Protein         1..269
                     /product="cytosolic Fe-S cluster assembly factor NUBP1
                     isoform 3"
                     /note="nucleotide binding protein 1 (MinD homolog, E.
                     coli); nucleotide binding protein 1 (E.coli MinD like);
                     cytosolic Fe-S cluster assembly factor NUBP1; nucleotide
                     binding protein (e.coli MinD like); NBP 1;
                     nucleotide-binding protein 1"
                     /calculated_mol_wt=28871
     Region          53..250
                     /region_name="ParA"
                     /note="NUBPL iron-transfer P-loop NTPase; pfam10609"
                     /db_xref="CDD:431392"
     Site            order(63..70,179,181,206..207,245..247,250..251)
                     /site_type="active"
                     /db_xref="CDD:349757"
     CDS             1..269
                     /gene="NUBP1"
                     /gene_synonym="CIAO5; NBP; NBP1; NBP35"
                     /coded_by="NM_001323594.2:23..832"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:4682"
                     /db_xref="HGNC:HGNC:8041"
                     /db_xref="MIM:600280"
ORIGIN      
        1 meevphdcpg adsaqagrga scqgcpnqrl casgagatpd taieeikekm ktvkhkilvl
       61 sgkggvgkst fsahlahgla edentqvhqs gsgwspvyve dnlgvmsvgf llsspddavi
      121 wrgpkkngmi kqflrdvdwg evdylivdtp pgtsdehlsv vrylatahid gaviittpqe
      181 vslqdvrkei nfcrkvklpi igvvenmsgf icpkckkesq ifppttggae lmcqdlevpl
      241 lgrvpldpli giqefcnlhq skeenliss
//
LOCUS       NP_001257373             229 aa            linear   PRI 30-DEC-2022
DEFINITION  retbindin isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001257373
VERSION     NP_001257373.1
DBSOURCE    REFSEQ: accession NM_001270444.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 229)
  AUTHORS   Kelley RA, Al-Ubaidi MR and Naash MI.
  TITLE     Retbindin Is Capable of Protecting Photoreceptors from
            Flavin-Sensitized Light-Mediated Cell Death In Vitro
  JOURNAL   Adv Exp Med Biol 1074, 485-490 (2018)
   PUBMED   29721980
  REMARK    GeneRIF: Retbindin is capable of flavin binding. This
            characteristic can protect photoreceptors from flavin-sensitized
            light damage. Human retbindin in the culture media of a
            riboflavin-sensitized transgenic mouse cone cell line protected it
            from a 1-hour light-box exposure at 12,000 lux.
REFERENCE   2  (residues 1 to 229)
  AUTHORS   Kelley RA, Al-Ubaidi MR and Naash MI.
  TITLE     Retbindin is an extracellular riboflavin-binding protein found at
            the photoreceptor/retinal pigment epithelium interface
  JOURNAL   J Biol Chem 290 (8), 5041-5052 (2015)
   PUBMED   25542898
  REMARK    GeneRIF: retbindin is an excellent candidate for binding retinal
            flavins and possibly participating in their transport from the
            extracellular space to the photoreceptors.
REFERENCE   3  (residues 1 to 229)
  AUTHORS   Oshikawa M, Tsutsui C, Ikegami T, Fuchida Y, Matsubara M, Toyama S,
            Usami R, Ohtoko K and Kato S.
  TITLE     Full-length transcriptome analysis of human retina-derived cell
            lines ARPE-19 and Y79 using the vector-capping method
  JOURNAL   Invest Ophthalmol Vis Sci 52 (9), 6662-6670 (2011)
   PUBMED   21697133
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 229)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   5  (residues 1 to 229)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020934.9, EL946853.1,
            BM688006.1, AB593122.1 and BU689643.1.
            
            Summary: This gene was first identified in a study of human eye
            tissues. The protein encoded by this gene is preferentially
            expressed in the retina and may play a role in binding retinoids
            and other carotenoids as it shares homology with riboflavin binding
            proteins. Alternative splicing results in multiple transcript
            variants and protein isoforms. [provided by RefSeq, Jul 2012].
            
            Transcript Variant: This variant (7) differs in the 5' UTR,
            compared to variant 1. Variants 1, 6 and 7 encode the same isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BM688006.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968540,
                                           SAMEA1968968 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..229
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13"
     Protein         1..229
                     /product="retbindin isoform 1 precursor"
                     /calculated_mol_wt=21236
     sig_peptide     1..30
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3397
     Region          29..183
                     /region_name="Folate_rec"
                     /note="Folate receptor family; pfam03024"
                     /db_xref="CDD:397250"
     mat_peptide     31..229
                     /product="retbindin isoform 1"
                     /calculated_mol_wt=21236
     Region          189..229
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BSG5.2)"
     CDS             1..229
                     /gene="RTBDN"
                     /coded_by="NM_001270444.2:75..764"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 7"
                     /db_xref="CCDS:CCDS45994.1"
                     /db_xref="GeneID:83546"
                     /db_xref="HGNC:HGNC:30310"
                     /db_xref="MIM:609553"
ORIGIN      
        1 mdcrvhmrpi gltwvlqltl awilleacgg srplqarsqq hhglaadlgk gklhlagpcc
       61 psemdttets gpgnhpercg vpspecesfl ehlqralrsr frlrllgvrq aqplceelcq
      121 awfanceddi tcgptwlpls ekrgcepscl tygqtfadgt dlcrsalgha lpvaapgarh
      181 cfnisisavp rprpgrrgre apsrrsrspr tsildaagsg sgsgsgsgp
//
LOCUS       NP_001374802             832 aa            linear   PRI 30-DEC-2022
DEFINITION  protein mono-ADP-ribosyltransferase PARP9 isoform d [Homo sapiens].
ACCESSION   NP_001374802
VERSION     NP_001374802.1
DBSOURCE    REFSEQ: accession NM_001387873.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 832)
  AUTHORS   Russo LC, Tomasin R, Matos IA, Manucci AC, Sowa ST, Dale K,
            Caldecott KW, Lehtio L, Schechtman D, Meotti FC, Bruni-Cardoso A
            and Hoch NC.
  TITLE     The SARS-CoV-2 Nsp3 macrodomain reverses PARP9/DTX3L-dependent
            ADP-ribosylation induced by interferon signaling
  JOURNAL   J Biol Chem 297 (3), 101041 (2021)
   PUBMED   34358560
  REMARK    GeneRIF: The SARS-CoV-2 Nsp3 macrodomain reverses
            PARP9/DTX3L-dependent ADP-ribosylation induced by interferon
            signaling.
REFERENCE   2  (residues 1 to 832)
  AUTHORS   Xing J, Zhang A, Du Y, Fang M, Minze LJ, Liu YJ, Li XC and Zhang Z.
  TITLE     Identification of poly(ADP-ribose) polymerase 9 (PARP9) as a
            noncanonical sensor for RNA virus in dendritic cells
  JOURNAL   Nat Commun 12 (1), 2681 (2021)
   PUBMED   33976210
  REMARK    GeneRIF: Identification of poly(ADP-ribose) polymerase 9 (PARP9) as
            a noncanonical sensor for RNA virus in dendritic cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 832)
  AUTHORS   Yang CS, Jividen K, Kamata T, Dworak N, Oostdyk L, Remlein B,
            Pourfarjam Y, Kim IK, Du KP, Abbas T, Sherman NE, Wotton D and
            Paschal BM.
  TITLE     Androgen signaling uses a writer and a reader of ADP-ribosylation
            to regulate protein complex assembly
  JOURNAL   Nat Commun 12 (1), 2705 (2021)
   PUBMED   33976187
  REMARK    GeneRIF: Androgen signaling uses a writer and a reader of
            ADP-ribosylation to regulate protein complex assembly.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 832)
  AUTHORS   Nowak K, Rosenthal F, Karlberg T, Butepage M, Thorsell AG, Dreier
            B, Grossmann J, Sobek J, Imhof R, Luscher B, Schuler H, Pluckthun
            A, Leslie Pedrioli DM and Hottiger MO.
  TITLE     Engineering Af1521 improves ADP-ribose binding and identification
            of ADP-ribosylated proteins
  JOURNAL   Nat Commun 11 (1), 5199 (2020)
   PUBMED   33060572
  REMARK    GeneRIF: Engineering Af1521 improves ADP-ribose binding and
            identification of ADP-ribosylated proteins.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 832)
  AUTHORS   Xu H, Chai S, Wang Y, Wang J, Xiao D, Li J and Xiong N.
  TITLE     Molecular and clinical characterization of PARP9 in gliomas: A
            potential immunotherapeutic target
  JOURNAL   CNS Neurosci Ther 26 (8), 804-814 (2020)
   PUBMED   32678519
  REMARK    GeneRIF: Molecular and clinical characterization of PARP9 in
            gliomas: A potential immunotherapeutic target.
REFERENCE   6  (residues 1 to 832)
  AUTHORS   Jha R, Agarwal A, Mahfouz R, Paasch U, Grunewald S, Sabanegh E,
            Yadav SP and Sharma R.
  TITLE     Determination of Poly (ADP-ribose) polymerase (PARP) homologues in
            human ejaculated sperm and its correlation with sperm maturation
  JOURNAL   Fertil Steril 91 (3), 782-790 (2009)
   PUBMED   18339380
  REMARK    GeneRIF: Determination of Poly (ADP-ribose) polymerase (PARP)
            homologues in human ejaculated sperm and its correlation with sperm
            maturation.
REFERENCE   7  (residues 1 to 832)
  AUTHORS   Juszczynski P, Kutok JL, Li C, Mitra J, Aguiar RC and Shipp MA.
  TITLE     BAL1 and BBAP are regulated by a gamma interferon-responsive
            bidirectional promoter and are overexpressed in diffuse large
            B-cell lymphomas with a prominent inflammatory infiltrate
  JOURNAL   Mol Cell Biol 26 (14), 5348-5359 (2006)
   PUBMED   16809771
  REMARK    GeneRIF: BAL1 and BBAP are located on chromosome 3q21 in a
            head-to-head orientation and are regulated by a
            IFN-gamma-responsive bidirectional promoter.
REFERENCE   8  (residues 1 to 832)
  AUTHORS   Aguiar RC, Takeyama K, He C, Kreinbrink K and Shipp MA.
  TITLE     B-aggressive lymphoma family proteins have unique domains that
            modulate transcription and exhibit poly(ADP-ribose) polymerase
            activity
  JOURNAL   J Biol Chem 280 (40), 33756-33765 (2005)
   PUBMED   16061477
REFERENCE   9  (residues 1 to 832)
  AUTHORS   Takeyama K, Aguiar RC, Gu L, He C, Freeman GJ, Kutok JL, Aster JC
            and Shipp MA.
  TITLE     The BAL-binding protein BBAP and related Deltex family members
            exhibit ubiquitin-protein isopeptide ligase activity
  JOURNAL   J Biol Chem 278 (24), 21930-21937 (2003)
   PUBMED   12670957
REFERENCE   10 (residues 1 to 832)
  AUTHORS   Aguiar RC, Yakushijin Y, Kharbanda S, Salgia R, Fletcher JA and
            Shipp MA.
  TITLE     BAL is a novel risk-related gene in diffuse large B-cell lymphomas
            that enhances cellular migration
  JOURNAL   Blood 96 (13), 4328-4334 (2000)
   PUBMED   11110709
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092908.9 and AC096861.5.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.2377008.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..832
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.1"
     Protein         1..832
                     /product="protein mono-ADP-ribosyltransferase PARP9
                     isoform d"
                     /EC_number="2.4.2.30"
                     /note="poly [ADP-ribose] polymerase 9; poly (ADP-ribose)
                     polymerase 9; PARP-9; b aggressive lymphoma protein;
                     ADP-ribosyltransferase diphtheria toxin-like 9; protein
                     mono-ADP-ribosyltransferase PARP9"
                     /calculated_mol_wt=93934
     Region          95..255
                     /region_name="Macro_Af1521_BAL-like"
                     /note="macrodomain, Af1521-like family; cd02907"
                     /db_xref="CDD:394877"
     Site            order(103..105,116..118,122..128,130,216..222)
                     /site_type="other"
                     /note="ADP-ribose binding site [chemical binding]"
                     /db_xref="CDD:394877"
     Region          288..464
                     /region_name="Macro_BAL-like"
                     /note="macrodomain, B-aggressive lymphoma (BAL)-like
                     family; cd02903"
                     /db_xref="CDD:394874"
     Site            order(303..305,315..317,323..326,329,407..413,447,453)
                     /site_type="other"
                     /note="ADP-ribose binding site [chemical binding]"
                     /db_xref="CDD:394874"
     Region          680..799
                     /region_name="TCCD_inducible_PARP_like"
                     /note="Poly(ADP-ribose) polymerases catalyse the covalent
                     attachment of ADP-ribose units from NAD+ to itself and to
                     a limited number of other DNA binding proteins, which
                     decreases their affinity for DNA. Poly(ADP-ribose)
                     polymerase is a regulatory component...; cd01439"
                     /db_xref="CDD:238719"
     Site            order(682..686,689,693,697..699,701,714..716,726,782)
                     /site_type="other"
                     /note="nad+ binding pocket [chemical binding]"
                     /db_xref="CDD:238719"
     CDS             1..832
                     /gene="PARP9"
                     /gene_synonym="ARTD9; BAL; BAL1; MGC:7868"
                     /coded_by="NM_001387873.1:146..2644"
                     /note="isoform d is encoded by transcript variant 15"
                     /db_xref="GeneID:83666"
                     /db_xref="HGNC:HGNC:24118"
                     /db_xref="MIM:612065"
ORIGIN      
        1 mdfsmkvfaq ifpqwrkgnt eeclpykcse tgalgenysw qipinhndfk ilknnerqlc
       61 evlqnkfgci stlvspvqeg nskslqvfrk mltprielsv wkddltthav davvnaaned
      121 llhggglala lvkaggfeiq eeskqfvary gkvsageiav tgagrlpckq iihavgprwm
      181 ewdkqgctgk lqraivsiln yviyknthik tvaipalssg ifqfplnlct ktivetirvs
      241 lqgkpmmsnl keihlvsned ptvaafkaas efilgkselg qettpsfnam vvnnltlqiv
      301 qghiewqtad vivnsvnphd itvgpvaksi lqqagvemks eflatkakqf qrsqlvlvtk
      361 gfnlfckyiy hvlwhsefpk pqilkhamke clekcieqni tsisfpalgt gnmeikketa
      421 aeilfdevlt fakdhvkhql tvkfvifptd leiykafsse makrskmlsl nnysvpqstr
      481 eekrenglea rspainlmgf nveemyeaha wiqrilslqn hhiiennhil ylgrkehdil
      541 sqlqktssvs iteiispgrt eleiegarad lievvmnied mlckvqeema rkkerglwrs
      601 lgqwtiqqqk tqdemkenii flkcpvpptq elldqkkqfe kcglqvlkve kidnevlmaa
      661 fqrkkkmmee klhrqpvshr lfqqvpyqfc nvvcrvgfqr mystpcdpky gagiyftknl
      721 knlaekakki saadkliyvf eaevltgffc qghplnivpp plspgaidgh dsvvdnvssp
      781 etfvifsgmq aipqylwtct qeyvqsqdys sgpmrpfaqh pwrgfasgsp vd
//
LOCUS       NP_001380456            2362 aa            linear   PRI 31-DEC-2022
DEFINITION  microtubule-associated serine/threonine-protein kinase 4 isoform 5
            [Homo sapiens].
ACCESSION   NP_001380456 XP_006714673
VERSION     NP_001380456.1
DBSOURCE    REFSEQ: accession NM_001393527.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2362)
  AUTHORS   Cui Y, Wang F, Zhang D, Huang J, Yang Y, Xu J, Gao Y, Ding H, Qu Y,
            Zhang W, Liu W, Pan L, Zhang L, Liu Z, Niu T, Liu T and Zheng Y.
  TITLE     Estrogen-Responsive Gene MAST4 Regulates Myeloma Bone Disease
  JOURNAL   J Bone Miner Res 37 (4), 711-723 (2022)
   PUBMED   35064934
  REMARK    GeneRIF: Estrogen-Responsive Gene MAST4 Regulates Myeloma Bone
            Disease.
REFERENCE   2  (residues 1 to 2362)
  AUTHORS   Lee SJ, Park J, Lee DJ, Otsu K, Kim P, Mizuno S, Lee MJ, Kim HY,
            Harada H, Takahashi S, Kim SJ and Jung HS.
  TITLE     Mast4 knockout shows the regulation of spermatogonial stem cell
            self-renewal via the FGF2/ERM pathway
  JOURNAL   Cell Death Differ 28 (5), 1441-1454 (2021)
   PUBMED   33219327
  REMARK    GeneRIF: Mast4 knockout shows the regulation of spermatogonial stem
            cell self-renewal via the FGF2/ERM pathway.
REFERENCE   3  (residues 1 to 2362)
  AUTHORS   Landoulsi Z, Laatar F, Noe E, Mrabet S, Ben Djebara M, Achaz G,
            Nava C, Baulac S, Kacem I, Gargouri-Berrechid A, Gouider R and
            Leguern E.
  TITLE     Clinical and genetic study of Tunisian families with genetic
            generalized epilepsy: contribution of CACNA1H and MAST4 genes
  JOURNAL   Neurogenetics 19 (3), 165-178 (2018)
   PUBMED   29948376
  REMARK    GeneRIF: Molecular studies incriminated different genes, mainly
            CACNA1H and MAST4. Since at least 2 susceptibility genes were
            likely shared by different populations, genetic factors involved in
            the majority of Tunisian Genetic generalized epilepsies families
            remain to be discovered.
REFERENCE   4  (residues 1 to 2362)
  AUTHORS   Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A,
            Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A,
            Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenite D, de Haan GJ,
            Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche
            H, Steinhoff BJ, Kleefuss-Lie AA, Kunz WS, Surges R, Elger CE,
            Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Moller
            RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer
            IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R,
            Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout
            R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow
            F, Morzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls
            A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin
            DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T,
            Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF,
            Hempelmann A, Schulz H, Ruschendorf F, Leber M, Pauck SM, Trucks H,
            Toliat MR, Nurnberg P, Avanzini G, Koeleman BP and Sander T.
  CONSRTM   EPICURE Consortium; EMINet Consortium
  TITLE     Genome-wide association analysis of genetic generalized epilepsies
            implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
  JOURNAL   Hum Mol Genet 21 (24), 5359-5372 (2012)
   PUBMED   22949513
REFERENCE   5  (residues 1 to 2362)
  AUTHORS   Martins-de-Souza D, Guest PC, Mann DM, Roeber S, Rahmoune H, Bauder
            C, Kretzschmar H, Volk B, Baborie A and Bahn S.
  TITLE     Proteomic analysis identifies dysfunction in cellular transport,
            energy, and protein metabolism in different brain regions of
            atypical frontotemporal lobar degeneration
  JOURNAL   J Proteome Res 11 (4), 2533-2543 (2012)
   PUBMED   22360420
  REMARK    GeneRIF: A protein encoded by this locus was found to be
            differentially expressed in postmortem brains from patients with
            atypical frontotemporal lobar degeneration.
REFERENCE   6  (residues 1 to 2362)
  AUTHORS   Shrestha S, Irvin MR, Taylor KD, Wiener HW, Pajewski NM,
            Haritunians T, Delaney JA, Schambelan M, Polak JF, Arnett DK, Chen
            YD and Grunfeld C.
  TITLE     A genome-wide association study of carotid atherosclerosis in
            HIV-infected men
  JOURNAL   AIDS 24 (4), 583-592 (2010)
   PUBMED   20009918
REFERENCE   7  (residues 1 to 2362)
  AUTHORS   Sun,L., Gu,S., Li,X., Sun,Y., Zheng,D., Yu,K., Ji,C., Tang,R.,
            Xie,Y. and Mao,Y.
  TITLE     [Identification of a novel human MAST4 gene, a new member of the
            microtubule associated serine-threonine kinase family]
  JOURNAL   Mol Biol (Mosk) 40 (5), 808-815 (2006)
   PUBMED   17086981
  REMARK    GeneRIF: high expression level of MAST4 in most normal human
            tissues, with an exception of in testis, small intestine, colon and
            peripheral blood leukocyte.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008872.6, AC008920.7 and
            AC044799.5.
            On Feb 18, 2021 this sequence version replaced XP_006714673.1.
            
            SUMMARY: This gene encodes a member of the microtubule-associated
            serine/threonine protein kinases. The proteins in this family
            contain a domain that gives the kinase the ability to determine its
            own scaffold to control the effects of their kinase activities.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Mar 2014].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853558.19387.1,
                                           SRR11853565.23114.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2362
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q12.3"
     Protein         1..2362
                     /product="microtubule-associated serine/threonine-protein
                     kinase 4 isoform 5"
                     /EC_number="2.7.11.1"
                     /note="microtubule-associated serine/threonine-protein
                     kinase 4"
                     /calculated_mol_wt=257516
     Region          64..337
                     /region_name="DUF1908"
                     /note="Domain of unknown function (DUF1908); pfam08926"
                     /db_xref="CDD:430324"
     Region          375..654
                     /region_name="STKc_MAST"
                     /note="Catalytic domain of the Protein Serine/Threonine
                     Kinase, Microtubule-associated serine/threonine kinase;
                     cd05609"
                     /db_xref="CDD:270760"
     Site            order(382..386,390,403,405,437,453..454,456,460,462,499,
                     501,503..504,506,516..517,520,549..554,581,587,590)
                     /site_type="active"
                     /db_xref="CDD:270760"
     Site            order(382..386,390,403,405,437,454..456,460,499,501,
                     503..504,506,516..517)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270760"
     Site            order(386,460,462,499,501,503,520,549..554,581,587,590)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270760"
     Site            order(516..526,546..554)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270760"
     Region          885..963
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(889..892,894,949..950,953..954)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          <1550..1928
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <1874..2173
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..2362
                     /gene="MAST4"
                     /coded_by="NM_001393527.1:340..7428"
                     /note="isoform 5 is encoded by transcript variant 11"
                     /db_xref="GeneID:375449"
                     /db_xref="HGNC:HGNC:19037"
                     /db_xref="MIM:618002"
ORIGIN      
        1 mdmsdpnfwt vlsnftlphl rsgnrlrrtq scrtsnrksl igngqspalp rphsplsaha
       61 gnspqdsprn fspsasahfs farrtdgrrw slaslpssgy gtntpsstvs sscssqeklh
      121 qlpyqptpde lhflskhfct tesiatenrc rntpmrprsr slspgrspac cdheiimmnh
      181 vykerfpkat aqmeerlkei itsyspdnvl pladgvlsft hhqiielard cldkshqgli
      241 tsryflelqh kldkllqeah drsesgelaf ikqlvrkili viarparlle clefdpeefy
      301 ylleaaegha kegqgiktdi pryiisqlgl nkdpleemah lgnydsgtae tpetdesvss
      361 snaslklrrk presdfetik lisngaygav yfvrhkesrq rfamkkinkq nlilrnqiqq
      421 afverdiltf aenpfvvsmy csfetrrhlc mvmeyveggd catlmknmgp lpvdmarmyf
      481 aetvlaleyl hnygivhrdl kpdnllvtsm ghikltdfgl skvglmsmtt nlyeghiekd
      541 arefldkqvc gtpeyiapev ilrqgygkpv dwwamgiily eflvgcvpff gdtpeelfgq
      601 visdeinwpe kdeapppdaq dlitlllrqn plerlgtgga yevkqhrffr sldwnsllrq
      661 kaefipqles eddtsyfdtr sekyhhmete eeddtndedf nveirqfssc shrfskvfss
      721 idritqnsae ekedsvdktk sttlpstetl swsseysemq qlstsnssdt esnrhklssg
      781 llpklaiste geqdeaascp gdpheepgkp alppeecaqe epevttpast issstlsdmf
      841 avsplgspms phslssdpss srdsspsrds saasasphqp ivihssgkny gftirairvy
      901 vgdsdiytvh hivwnveegs pacqaglkag dlithingep vhglvhtevi elllksgnkv
      961 sitttpfent siktgparrn syksrmvrrs kkskkkesle rrrslfkkla kqpspllhts
     1021 rsfsclnrsl ssgeslpgsp thslsprspt psyrstpdfp sgtnssqsss psssapnspa
     1081 gsghirpstl hglapklggq ryrsgrrksa gniplsplar tpsptpqpts pqrspspllg
     1141 hslgnskiaq afpskmhspp tivrhivrpk saepprspll krvqseekls psygsdkkhl
     1201 csrkhslevt qeevqreqsq reaplqslde nvcdvpplsr arpveqgclk rpvsrkvgrq
     1261 esvddldrdk lkakvvvkka dgfpekqesh qkshgpgsdl enfalfklee rekkvypkav
     1321 ersstfenka smqeapplgs llkdalhkqa svrasegams dgrvpaehrq gggdfrrapa
     1381 pgtlqdglch sldrgisgkg egtekssqak ellrceklds klanidylrk kmsledkedn
     1441 lcpvlkpkmt agsheclpgn pvrptggqqe pppasesraf vssthaaqms avsfvplkal
     1501 tgrvdsgtek pglvapespv rkspseykle grsvsclkpi egtldialls gpqasktelp
     1561 spesaqspsp sgdvrasvpp vlpsssgkkn dttsarelsp sslkmnksyl lepwflppsr
     1621 glqnspavsl pdpefkrdrk gphptarspg tvmesnpqqr egsspkhqdh ttdpklltcl
     1681 gqnlhspdla rprcplppea spsrekpglr essergppta rsersaarad tcrepsmelc
     1741 fpetaktsdn sknllsvgrt hpdfytqtqa mekawapggk tnhkdgpgea rppprdnssl
     1801 hsagipceke lgkvrrgvep kpeallarrs lqppgiesek seklssfpsl qkdgakeper
     1861 keqplqrhps sippppltak dlsspaarqh csspshasgr epgakpstae pssspqdppk
     1921 pvaahsesss hkprpgpdpg ppktkhpdrs lssqkpsvga tkgkepatqs lggssregkg
     1981 hsksgpdvfp atpgsqnkas dgigqgeggp svplhtdrap ldakpqptsg grplevlekp
     2041 vhlprpghpg psepadqkls avgekqtlsp khpkpstvkd cptlckqtdn rqtdkspsqp
     2101 aantdrraeg kkctealyap aegdkleagl sfvhsenrlk gaerpaagvg kgfpeargkg
     2161 pgpqkpptea dkpngmkrsp satgqssfrs talpekslsc sssfpetrag vreasaassd
     2221 tssakaaggm lelpapsnrd hrkaqpageg rthmtksdsl psfrvstlpl eshhpdpntm
     2281 ggashrdral svtatvgetk gkdpapaqpp parkqnvgrd vtkpspapnt drpislsnek
     2341 dfvvrqrrgk eslrssphkk al
//
LOCUS       NP_001120817             117 aa            linear   PRI 31-DEC-2022
DEFINITION  G antigen 12B/C/D/E [Homo sapiens].
ACCESSION   NP_001120817
VERSION     NP_001120817.2
DBSOURCE    REFSEQ: accession NM_001127345.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 117)
  AUTHORS   Nin DS, Wujanto C, Tan TZ, Lim D, Damen JMA, Wu KY, Dai ZM, Lee ZW,
            Idres SB, Leong YH, Jha S, Ng JS, Low JJH, Chang SC, Tan DSP, Wu W,
            Choo BA and Deng LW.
  TITLE     GAGE mediates radio resistance in cervical cancers via the
            regulation of chromatin accessibility
  JOURNAL   Cell Rep 36 (9), 109621 (2021)
   PUBMED   34469741
  REMARK    GeneRIF: GAGE mediates radio resistance in cervical cancers via the
            regulation of chromatin accessibility.
REFERENCE   2  (residues 1 to 117)
  AUTHORS   Gjerstorff MF and Ditzel HJ.
  TITLE     An overview of the GAGE cancer/testis antigen family with the
            inclusion of newly identified members
  JOURNAL   Tissue Antigens 71 (3), 187-192 (2008)
   PUBMED   18179644
  REMARK    Review article
REFERENCE   3  (residues 1 to 117)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N,
            Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar
            M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC233302.2 and AC142497.3.
            On Aug 11, 2017 this sequence version replaced NP_001120817.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BM832793.1, HY012971.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..117
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     Protein         1..117
                     /product="G antigen 12B/C/D/E"
                     /calculated_mol_wt=12847
     Region          1..117
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A1L429.1)"
     Region          1..111
                     /region_name="GAGE"
                     /note="GAGE protein; pfam05831"
                     /db_xref="CDD:428642"
     CDS             1..117
                     /gene="GAGE12B"
                     /gene_synonym="GAGE-12B"
                     /coded_by="NM_001127345.3:101..454"
                     /db_xref="GeneID:729428"
                     /db_xref="HGNC:HGNC:26779"
ORIGIN      
        1 mswrgrstyy wprprryvqp pemigpmrpe qfsdevepat peegepatqr qdpaaaqege
       61 degasagqgp kpeahsqeqg hpqtgceced gpdgqemdpp npeevktpee gekqsqc
//
LOCUS       NP_001387519             126 aa            linear   PRI 31-DEC-2022
DEFINITION  protein FAM78A isoform 6 [Homo sapiens].
ACCESSION   NP_001387519
VERSION     NP_001387519.1
DBSOURCE    REFSEQ: accession NM_001400590.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 126)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 126)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   3  (residues 1 to 126)
  AUTHORS   Hattori A, Okumura K, Nagase T, Kikuno R, Hirosawa M and Ohara O.
  TITLE     Characterization of long cDNA clones from human adult spleen
  JOURNAL   DNA Res 7 (6), 357-366 (2000)
   PUBMED   11214971
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL157938.22.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.2347568.1,
                                           SRR1163658.190375.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..126
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13"
     Protein         1..126
                     /product="protein FAM78A isoform 6"
                     /note="protein FAM78A"
                     /calculated_mol_wt=14295
     CDS             1..126
                     /gene="FAM78A"
                     /gene_synonym="C9orf59"
                     /coded_by="NM_001400590.1:245..625"
                     /note="isoform 6 is encoded by transcript variant 12"
                     /db_xref="GeneID:286336"
                     /db_xref="HGNC:HGNC:25465"
ORIGIN      
        1 mndnfypsvt wavpvsesnv akltniyrdq sfttwlvatn tstndmiilq tlhwrmqlsi
       61 evnpnrplgq rarlrepiaq dqpkilskne pippsalvkp nandaqvlmw rpkygqplvv
      121 ippkhr
//
LOCUS       NP_001386962             505 aa            linear   PRI 31-DEC-2022
DEFINITION  myocyte-specific enhancer factor 2A isoform 5 [Homo sapiens].
ACCESSION   NP_001386962
VERSION     NP_001386962.1
DBSOURCE    REFSEQ: accession NM_001400033.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 505)
  AUTHORS   Gao Y, Liu Y, Zheng D, Ho C, Wen D, Sun J, Huang L, Liu Y, Li Q and
            Zhang Y.
  TITLE     HDAC5-mediated Smad7 silencing through MEF2A is critical for
            fibroblast activation and hypertrophic scar formation
  JOURNAL   Int J Biol Sci 18 (15), 5724-5739 (2022)
   PUBMED   36263180
  REMARK    GeneRIF: HDAC5-mediated Smad7 silencing through MEF2A is critical
            for fibroblast activation and hypertrophic scar formation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 505)
  AUTHORS   Zhang D, Zhang G, Yu K, Zhang X and Jiang A.
  TITLE     MiRNA-615-3p Alleviates Oxidative Stress Injury of Human
            Cardiomyocytes Via PI3K/Akt Signaling by Targeting MEF2A
  JOURNAL   Anatol J Cardiol 26 (5), 373-381 (2022)
   PUBMED   35552173
  REMARK    GeneRIF: MiRNA-615-3p Alleviates Oxidative Stress Injury of Human
            Cardiomyocytes Via PI3K/Akt Signaling by Targeting MEF2A.
REFERENCE   3  (residues 1 to 505)
  AUTHORS   Cilenti F, Barbiera G, Caronni N, Iodice D, Montaldo E, Barresi S,
            Lusito E, Cuzzola V, Vittoria FM, Mezzanzanica L, Miotto P, Di
            Lucia P, Lazarevic D, Cirillo DM, Iannacone M, Genua M and Ostuni
            R.
  TITLE     A PGE2-MEF2A axis enables context-dependent control of inflammatory
            gene expression
  JOURNAL   Immunity 54 (8), 1665-1682 (2021)
   PUBMED   34129840
  REMARK    GeneRIF: A PGE2-MEF2A axis enables context-dependent control of
            inflammatory gene expression.
REFERENCE   4  (residues 1 to 505)
  AUTHORS   Xiao Q, Gan Y, Li Y, Fan L, Liu J, Lu P, Liu J, Chen A, Shu G and
            Yin G.
  TITLE     MEF2A transcriptionally upregulates the expression of ZEB2 and
            CTNNB1 in colorectal cancer to promote tumor progression
  JOURNAL   Oncogene 40 (19), 3364-3377 (2021)
   PUBMED   33863999
  REMARK    GeneRIF: MEF2A transcriptionally upregulates the expression of ZEB2
            and CTNNB1 in colorectal cancer to promote tumor progression.
REFERENCE   5  (residues 1 to 505)
  AUTHORS   Chen W, Zhang K, Yang Y, Guo Z, Wang X, Teng B, Zhao Q, Huang C and
            Qiu Z.
  TITLE     MEF2A-mediated lncRNA HCP5 Inhibits Gastric Cancer Progression via
            MiR-106b-5p/p21 Axis
  JOURNAL   Int J Biol Sci 17 (2), 623-634 (2021)
   PUBMED   33613117
  REMARK    GeneRIF: MEF2A-mediated lncRNA HCP5 Inhibits Gastric Cancer
            Progression via MiR-106b-5p/p21 Axis.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 505)
  AUTHORS   Han TH and Prywes R.
  TITLE     Regulatory role of MEF2D in serum induction of the c-jun promoter
  JOURNAL   Mol Cell Biol 15 (6), 2907-2915 (1995)
   PUBMED   7760790
REFERENCE   7  (residues 1 to 505)
  AUTHORS   Kaushal S, Schneider JW, Nadal-Ginard B and Mahdavi V.
  TITLE     Activation of the myogenic lineage by MEF2A, a factor that induces
            and cooperates with MyoD
  JOURNAL   Science 266 (5188), 1236-1240 (1994)
   PUBMED   7973707
REFERENCE   8  (residues 1 to 505)
  AUTHORS   Funk WD and Wright WE.
  TITLE     Cyclic amplification and selection of targets for multicomponent
            complexes: myogenin interacts with factors recognizing binding
            sites for basic helix-loop-helix, nuclear factor 1,
            myocyte-specific enhancer-binding factor 2, and COMP1 factor
  JOURNAL   Proc Natl Acad Sci U S A 89 (20), 9484-9488 (1992)
   PUBMED   1329097
REFERENCE   9  (residues 1 to 505)
  AUTHORS   Yu YT, Breitbart RE, Smoot LB, Lee Y, Mahdavi V and Nadal-Ginard B.
  TITLE     Human myocyte-specific enhancer factor 2 comprises a group of
            tissue-restricted MADS box transcription factors
  JOURNAL   Genes Dev 6 (9), 1783-1798 (1992)
   PUBMED   1516833
REFERENCE   10 (residues 1 to 505)
  AUTHORS   Pollock R and Treisman R.
  TITLE     Human SRF-related proteins: DNA-binding properties and potential
            regulatory targets
  JOURNAL   Genes Dev 5 (12A), 2327-2341 (1991)
   PUBMED   1748287
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC103967.4 and AC022692.11.
            
            Summary: The protein encoded by this gene is a DNA-binding
            transcription factor that activates many muscle-specific, growth
            factor-induced, and stress-induced genes. The encoded protein can
            act as a homodimer or as a heterodimer and is involved in several
            cellular processes, including muscle development, neuronal
            differentiation, cell growth control, and apoptosis. Defects in
            this gene could be a cause of autosomal dominant coronary artery
            disease 1 with myocardial infarction (ADCAD1). Several transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Jan 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.189326.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..505
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     Protein         1..505
                     /product="myocyte-specific enhancer factor 2A isoform 5"
                     /note="MADS box transcription enhancer factor 2,
                     polypeptide A (myocyte enhancer factor 2A);
                     myocyte-specific enhancer factor 2A; serum response
                     factor-like protein 1"
                     /calculated_mol_wt=54311
     Region          1..>235
                     /region_name="ARG80"
                     /note="Regulator of arginine metabolism and related MADS
                     box-containing transcription factors [Transcription];
                     COG5068"
                     /db_xref="CDD:227400"
     Region          2..78
                     /region_name="MADS_MEF2_like"
                     /note="MEF2 (myocyte enhancer factor 2)-like/Type II
                     subfamily of MADS (MCM1, Agamous, Deficiens, and SRF
                     (serum response factor) box family of eukaryotic
                     transcriptional regulators. Binds DNA and exists as hetero
                     and homo-dimers. Differs from SRF-like/Type I...; cd00265"
                     /db_xref="CDD:238165"
     Site            order(2..4,6,8,13,15,19..20,23..24,26..27,30..31,33..34,
                     38)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238165"
     Site            order(21,28..29,32..33,35..36,39,44,46,48,54,56,62,65..66,
                     69,72..73)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238165"
     Site            59
                     /site_type="other"
                     /note="putative phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:238165"
     CDS             1..505
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /coded_by="NM_001400033.1:369..1886"
                     /note="isoform 5 is encoded by transcript variant 33"
                     /db_xref="CCDS:CCDS81920.1"
                     /db_xref="GeneID:4205"
                     /db_xref="HGNC:HGNC:6993"
                     /db_xref="MIM:600660"
ORIGIN      
        1 mgrkkiqitr imdernrqvt ftkrkfglmk kayelsvlcd ceialiifns snklfqyast
       61 dmdkvllkyt eynephesrt nsdivetlrk kglngcespd addyfehspl sedrfsklne
      121 dsdfifkrgp pglppqnfsm svtvpvtspn alsytnpgss lvspslaass tltdssmlsp
      181 pqttlhrnvs pgapqrppst gnaggmlstt dltvpngags spvgngfvns raspnligat
      241 ganslgkvmp tksppppggg nlgmnsrkpd lrvvippssk gmmpplseee elelntqris
      301 ssqatqplat pvvsvttpsl ppqglvysam ptayntdysl tsadlsalqg fnspgmlslg
      361 qvsawqqhhl gqaalsslva ggqlsqgsnl sintnqnisi ksepispprd rmtpsgfqqq
      421 qqqqqqqqpp pppqpqpqpp qpqprqemgr spvdslssss ssydgsdred prgdfhspiv
      481 lgrppntedr espsvkrmrm dawvt
//
LOCUS       NP_001399924             894 aa            linear   PRI 01-JAN-2023
DEFINITION  protein FAN isoform 10 [Homo sapiens].
ACCESSION   NP_001399924
VERSION     NP_001399924.1
DBSOURCE    REFSEQ: accession NM_001412995.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 894)
  AUTHORS   Forsberg J, Li X, Zamaraev AV, Panaretakis T, Zhivotovsky B and
            Olsson M.
  TITLE     Caspase-2 associates with FAN through direct interaction and
            overlapping functionality
  JOURNAL   Biochem Biophys Res Commun 499 (4), 822-828 (2018)
   PUBMED   29621545
  REMARK    GeneRIF: these data identify a novel caspase-2-interacting factor,
            FAN, and expand the role for the enzyme in seemingly non-apoptotic
            cellular mechanisms.
REFERENCE   2  (residues 1 to 894)
  AUTHORS   Qrafli M, Asekkaj I, Bourkadi JE, El Aouad R and Sadki K.
  TITLE     New variant identified in major susceptibility locus to
            tuberculosis on chromosomal region 8q12-q13 in Moroccan population:
            a case control study
  JOURNAL   BMC Infect Dis 17 (1), 712 (2017)
   PUBMED   29115933
  REMARK    GeneRIF: The rs1050504 C > T genotype was observed to be
            significantly associated with an increased risk for developing
            pulmonary tuberculosis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 894)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (residues 1 to 894)
  AUTHORS   Steffens A, Brautigam A, Jakoby M and Hulskamp M.
  TITLE     The BEACH Domain Protein SPIRRIG Is Essential for Arabidopsis Salt
            Stress Tolerance and Functions as a Regulator of Transcript
            Stabilization and Localization
  JOURNAL   PLoS Biol 13 (7), e1002188 (2015)
   PUBMED   26133670
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 894)
  AUTHORS   Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A,
            Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V,
            Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I,
            Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat
            JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang
            W, Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd
            PM, Hayward C, Aulchenko Y, Campbell H and Rudan I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   6  (residues 1 to 894)
  AUTHORS   Tcherkasowa AE, Adam-Klages S, Kruse ML, Wiegmann K, Mathieu S,
            Kolanus W, Kronke M and Adam D.
  TITLE     Interaction with factor associated with neutral sphingomyelinase
            activation, a WD motif-containing protein, identifies receptor for
            activated C-kinase 1 as a novel component of the signaling pathways
            of the p55 TNF receptor
  JOURNAL   J Immunol 169 (9), 5161-5170 (2002)
   PUBMED   12391233
  REMARK    GeneRIF: The interaction of FAN with receptor for activated
            C-kinase 1 (RACK1) appears to be dependent on the folding of the WD
            repeats into a secondary structure, because no linear binding
            motifs are identified in the WD-repeat region of FAN.
REFERENCE   7  (residues 1 to 894)
  AUTHORS   Segui B, Andrieu-Abadie N, Adam-Klages S, Meilhac O, Kreder D,
            Garcia V, Bruno AP, Jaffrezou JP, Salvayre R, Kronke M and Levade
            T.
  TITLE     CD40 signals apoptosis through FAN-regulated activation of the
            sphingomyelin-ceramide pathway
  JOURNAL   J Biol Chem 274 (52), 37251-37258 (1999)
   PUBMED   10601289
REFERENCE   8  (residues 1 to 894)
  AUTHORS   Zhang Y, Kreder D, Schwandner R, Krut O, Scherer G, Adam-Klages S,
            Siebert R, Kronke M and Schlegelberger B.
  TITLE     Assignment of the human FAN protein gene (NSMAF) to human
            chromosome region 8q12-->q13 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 87 (1-2), 115-116 (1999)
   PUBMED   10640829
REFERENCE   9  (residues 1 to 894)
  AUTHORS   Adam-Klages S, Schwandner R, Adam D, Kreder D, Bernardo K and
            Kronke M.
  TITLE     Distinct adapter proteins mediate acid versus neutral
            sphingomyelinase activation through the p55 receptor for tumor
            necrosis factor
  JOURNAL   J Leukoc Biol 63 (6), 678-682 (1998)
   PUBMED   9620659
  REMARK    Review article
REFERENCE   10 (residues 1 to 894)
  AUTHORS   Adam-Klages S, Adam D, Wiegmann K, Struve S, Kolanus W,
            Schneider-Mergener J and Kronke M.
  TITLE     FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to
            neutral sphingomyelinase
  JOURNAL   Cell 86 (6), 937-947 (1996)
   PUBMED   8808629
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092700.2 and AC068522.7.
            
            Summary: This gene encodes a WD-repeat protein that binds the
            cytoplasmic sphingomyelinase activation domain of the 55kD tumor
            necrosis factor receptor. This protein is required for TNF-mediated
            activation of neutral sphingomyelinase and may play a role in
            regulating TNF-induced cellular responses such as inflammation.
            Alternative splicing results in multiple transcript
            variants.[provided by RefSeq, Jan 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.3868252.1,
                                           SRR14038192.952931.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..894
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     Protein         1..894
                     /product="protein FAN isoform 10"
                     /note="protein FAN; factor associated with N-SMase
                     activation; factor associated with neutral
                     sphingomyelinase activation; neutral sphingomyelinase
                     (N-SMase) activation associated factor"
                     /calculated_mol_wt=101547
     Region          192..285
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          304..575
                     /region_name="Beach"
                     /note="Beige/BEACH domain; pfam02138"
                     /db_xref="CDD:426617"
     Region          622..887
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Region          628..658
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92636.2)"
     Site            order(629,647,651,657..658,670..671,689,693,699..700,
                     712..713,728,733,739..740,753,779,784,790..791,803..804,
                     822,826,832..833,845..846,860,865,871..872,884..885)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          633..670
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          670..700
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92636.2)"
     Region          676..712
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          712..740
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92636.2)"
     Region          717..751
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          761..791
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92636.2)"
     Region          767..802
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          803..833
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92636.2)"
     Region          808..844
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          851..883
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..894
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /coded_by="NM_001412995.1:223..2907"
                     /note="isoform 10 is encoded by transcript variant 10"
                     /db_xref="GeneID:8439"
                     /db_xref="HGNC:HGNC:8017"
                     /db_xref="MIM:603043"
ORIGIN      
        1 mafirkkqqe qqlqlysker fsllllnlee yyfeqhranh ilhkgshher kirgslkics
       61 ksvifepdsi sqpiikiplr dcikigkhge nganrhftka ksggislifs qvyfikehnv
      121 vapykiergk meyvfeldvp gkvedvvetl lqlhrascld klgdqtamit ailqsrlart
      181 sfdknrfqni seklhmecka emvtplvtnp ghvcitdtnl yfqplngypk pvvqitlqdv
      241 rriykrrhgl mplglevfct eddlcsdiyl kfyepqdrdd lyfyiatyle hhvaehtaes
      301 ymlqwqrghl snyqyllhln nladrscndl sqypvfpwii hdyssseldl snpgtfrdls
      361 kpvgalnker lerlltryqe mpepkfmygs hysspgyvlf ylvriapeym lclqngrfdn
      421 adrmfnsiae twkncldgat dfkelipefy gddvsflvns lkldlgkrqg gqmvddvelp
      481 pwasspedfl qkskdalesn yvsehlhewi dlifgykqkg sdavgahnvf hpltyeggvd
      541 lnsiqdpdek vamltqilef gqtpkqlfvt phprritpkf kslsqtssyn asmadspgee
      601 sfedlteesk tlawnnitkl qlhehykihk eavtgitvsr ngssvfttsq dstlkmfske
      661 skmlqrsisf snmalsscll lpgdatvits swdnnvyfys iafgrrqdtl mghddavski
      721 cwhdnrlysa swdstvkvws gvpaempgtk rhhfdllael ehdvsvdtis lnaastllvs
      781 gtkegtvniw dlttatlmhq ipchsgivcd tafspdsrhv lstgtdgcln vidvqtgmli
      841 ssmtsdepqr cfvwdgnsvl sgsqsgellv wdllgakise riqghtgkql lqlp
//
LOCUS       NP_001277486             375 aa            linear   PRI 08-JAN-2023
DEFINITION  adiponectin receptor protein 1 [Homo sapiens].
ACCESSION   NP_001277486 XP_006711423
VERSION     NP_001277486.1
DBSOURCE    REFSEQ: accession NM_001290557.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 375)
  AUTHORS   Kaiyrlykyzy A, Umbayev B, Masoud AR, Baibulatova A, Tsoy A,
            Olzhayev F, Alzhanova D, Zholdasbekova G, Davletov K, Akilzhanova A
            and Askarova S.
  TITLE     Circulating adiponectin levels, expression of adiponectin
            receptors, and methylation of adiponectin gene promoter in relation
            to Alzheimer's disease
  JOURNAL   BMC Med Genomics 15 (1), 262 (2022)
   PUBMED   36527105
  REMARK    GeneRIF: Circulating adiponectin levels, expression of adiponectin
            receptors, and methylation of adiponectin gene promoter in relation
            to Alzheimer's disease.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 375)
  AUTHORS   Mihajlovic M, Ninic A, Ostojic M, Sopic M, Stefanovic A, Vekic J,
            Antonic T, Zeljkovic D, Trifunovic B, Spasojevic-Kalimanovska V,
            Bogavac Stanojevic N, Jancic I and Zeljkovic A.
  TITLE     Association of Adiponectin Receptors with Metabolic and Immune
            Homeostasis Parameters in Colorectal Cancer: In Silico Analysis and
            Observational Findings
  JOURNAL   Int J Environ Res Public Health 19 (22), 14995 (2022)
   PUBMED   36429712
  REMARK    GeneRIF: Association of Adiponectin Receptors with Metabolic and
            Immune Homeostasis Parameters in Colorectal Cancer: In Silico
            Analysis and Observational Findings.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 375)
  AUTHORS   Feng H, Liu Y, Gan Y, Li M, Liu R, Liang Z, Liu L, Li L, Chen H, Li
            G, Tian Z, Liu X and Ma S.
  TITLE     AdipoR1 Regulates Ionizing Radiation-Induced Ferroptosis in HCC
            cells through Nrf2/xCT Pathway
  JOURNAL   Oxid Med Cell Longev 2022, 8091464 (2022)
   PUBMED   35733794
  REMARK    GeneRIF: AdipoR1 Regulates Ionizing Radiation-Induced Ferroptosis
            in HCC cells through Nrf2/xCT Pathway.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 375)
  AUTHORS   Ayyildiz T, Dolar E, Ugras N, Dizdar OS, Erturk B, Adim SB and
            Yerci O.
  TITLE     The expression and relationship of AdipoR1/R2 in gastric intestinal
            metaplasia
  JOURNAL   Niger J Clin Pract 24 (4), 608-613 (2021)
   PUBMED   33851685
  REMARK    GeneRIF: The expression and relationship of AdipoR1/R2 in gastric
            intestinal metaplasia.
REFERENCE   5  (residues 1 to 375)
  AUTHORS   Ashwal R, Hemi R, Tirosh A, Gordin R, Yissachar E, Cohen-Dayag A,
            Rosenberg A, Karasik A, Bluher M and Kanety H.
  TITLE     Differential expression of novel adiponectin receptor-1 transcripts
            in skeletal muscle of subjects with normal glucose tolerance and
            type 2 diabetes
  JOURNAL   Diabetes 60 (3), 936-946 (2011)
   PUBMED   21289205
  REMARK    GeneRIF: AdipoR1 receptor expression in human skeletal muscle is
            subjected to posttranscriptional regulation, including alternative
            splicing and translational control.
REFERENCE   6  (residues 1 to 375)
  AUTHORS   Staiger H, Kaltenbach S, Staiger K, Stefan N, Fritsche A, Guirguis
            A, Peterfi C, Weisser M, Machicao F, Stumvoll M and Haring HU.
  TITLE     Expression of adiponectin receptor mRNA in human skeletal muscle
            cells is related to in vivo parameters of glucose and lipid
            metabolism
  JOURNAL   Diabetes 53 (9), 2195-2201 (2004)
   PUBMED   15331527
  REMARK    GeneRIF: myotube mRNA levels of both receptors are associated with
            distinct metabolic functions but not with insulin sensitivity;
            AdipoR1, but not AdipoR2, expression correlated with insulin
            secretion.
REFERENCE   7  (residues 1 to 375)
  AUTHORS   Wang H, Zhang H, Jia Y, Zhang Z, Craig R, Wang X and Elbein SC.
  TITLE     Adiponectin receptor 1 gene (ADIPOR1) as a candidate for type 2
            diabetes and insulin resistance
  JOURNAL   Diabetes 53 (8), 2132-2136 (2004)
   PUBMED   15277397
  REMARK    GeneRIF: ADIPOR1 mRNA levels were significantly lower among
            transformed lymphocytes from diabetic African-American individuals
            than among control cell lines.
REFERENCE   8  (residues 1 to 375)
  AUTHORS   Civitarese AE, Jenkinson CP, Richardson D, Bajaj M, Cusi K, Kashyap
            S, Berria R, Belfort R, DeFronzo RA, Mandarino LJ and Ravussin E.
  TITLE     Adiponectin receptors gene expression and insulin sensitivity in
            non-diabetic Mexican Americans with or without a family history of
            Type 2 diabetes
  JOURNAL   Diabetologia 47 (5), 816-820 (2004)
   PUBMED   15105989
  REMARK    GeneRIF: Epression levels of AdipoR1 as well as plasma adiponectin
            concentration were lower in people with a family history of Type 2.
REFERENCE   9  (residues 1 to 375)
  AUTHORS   Kharroubi I, Rasschaert J, Eizirik DL and Cnop M.
  TITLE     Expression of adiponectin receptors in pancreatic beta cells
  JOURNAL   Biochem Biophys Res Commun 312 (4), 1118-1122 (2003)
   PUBMED   14651988
  REMARK    GeneRIF: Here we report the marked expression of mRNAs for the
            adiponectin receptors AdipoR1 and AdipoR2 in human and rat
            pancreatic beta cells, at levels similar to liver and greater than
            muscle.
REFERENCE   10 (residues 1 to 375)
  AUTHORS   Yamauchi T, Kamon J, Ito Y, Tsuchida A, Yokomizo T, Kita S,
            Sugiyama T, Miyagishi M, Hara K, Tsunoda M, Murakami K, Ohteki T,
            Uchida S, Takekawa S, Waki H, Tsuno NH, Shibata Y, Terauchi Y,
            Froguel P, Tobe K, Koyasu S, Taira K, Kitamura T, Shimizu T, Nagai
            R and Kadowaki T.
  TITLE     Cloning of adiponectin receptors that mediate antidiabetic
            metabolic effects
  JOURNAL   Nature 423 (6941), 762-769 (2003)
   PUBMED   12802337
  REMARK    GeneRIF: cloning of cDNAs encoding adiponectin receptors 1 and 2
            (AdipoR1 and AdipoR2) by expression cloning [AdipoR1 & AdipoR2]
            Erratum:[Nature. 2004 Oct 28;431(7012):1123]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC096632.3, BI597715.1,
            BC010743.1 and AI251444.1.
            On Mar 18, 2014 this sequence version replaced XP_006711423.1.
            
            Summary: This gene encodes a protein which acts as a receptor for
            adiponectin, a hormone secreted by adipocytes which regulates fatty
            acid catabolism and glucose levels. Binding of adiponectin to the
            encoded protein results in activation of an AMP-activated kinase
            signaling pathway which affects levels of fatty acid oxidation and
            insulin sensitivity. A pseudogene of this gene is located on
            chromosome 14. Multiple alternatively spliced transcript variants
            have been found for this gene. [provided by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (3, also known as R1T3) has an
            additional internal exon in the 5' UTR, compared to variant 1. All
            variants encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.141372.1,
                                           SRR1803611.232868.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            regulatory uORF :: PMID: 21289205
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     Protein         1..375
                     /product="adiponectin receptor protein 1"
                     /note="progestin and adipoQ receptor family member I;
                     progestin and adipoQ receptor family member 1"
                     /calculated_mol_wt=42485
     Region          1..60
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A54.1)"
     Region          129..352
                     /region_name="HlyIII"
                     /note="Haemolysin-III related; pfam03006"
                     /db_xref="CDD:427098"
     Site            137..157
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A54.1)"
     Site            171..191
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A54.1)"
     Site            204..224
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A54.1)"
     Site            235..255
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A54.1)"
     Site            265..285
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A54.1)"
     Site            299..319
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A54.1)"
     Site            338..358
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A54.1)"
     CDS             1..375
                     /gene="ADIPOR1"
                     /gene_synonym="ACDCR1; CGI-45; CGI45; PAQR1; TESBP1A"
                     /coded_by="NM_001290557.1:374..1501"
                     /db_xref="CCDS:CCDS1430.1"
                     /db_xref="GeneID:51094"
                     /db_xref="HGNC:HGNC:24040"
                     /db_xref="MIM:607945"
ORIGIN      
        1 msshkgsvva qgngapasnr eadtvelael gplleekgkr vianppkaee eqtcpvpqee
       61 eeevrvltlp lqahhamekm eefvykvweg rwrvipydvl pdwlkdndyl lhghrppmps
      121 fracfksifr ihtetgniwt hllgfvlflf lgiltmlrpn myfmaplqek vvfgmfflga
      181 vlclsfswlf htvychsekv srtfskldys giallimgsf vpwlyysfyc spqprliyls
      241 ivcvlgisai ivaqwdrfat pkhrqtragv flglglsgvv ptmhftiaeg fvkattvgqm
      301 gwfflmavmy itgaglyaar iperffpgkf diwfqshqif hvlvvaaafv hfygvsnlqe
      361 frygleggct ddtll
//
LOCUS       NP_001333479             755 aa            linear   PRI 22-JAN-2023
DEFINITION  lethal(3)malignant brain tumor-like protein 3 isoform b [Homo
            sapiens].
ACCESSION   NP_001333479 XP_016866845
VERSION     NP_001333479.1
DBSOURCE    REFSEQ: accession NM_001346550.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 755)
  AUTHORS   Hall D, Giaimo BD, Park SS, Hemmer W, Friedrich T, Ferrante F,
            Bartkuhn M, Yuan Z, Oswald F, Borggrefe T, Rual JF and Kovall RA.
  TITLE     The structure, binding and function of a Notch transcription
            complex involving RBPJ and the epigenetic reader protein L3MBTL3
  JOURNAL   Nucleic Acids Res 50 (22), 13083-13099 (2022)
   PUBMED   36477367
  REMARK    GeneRIF: The structure, binding and function of a Notch
            transcription complex involving RBPJ and the epigenetic reader
            protein L3MBTL3.
REFERENCE   2  (residues 1 to 755)
  AUTHORS   Alcina A, Fedetz M, Vidal-Cobo I, Andres-Leon E, Garcia-Sanchez MI,
            Barroso-Del-Jesus A, Eichau S, Gil-Varea E, Luisa-Maria Villar,
            Saiz A, Leyva L, Vandenbroeck K, Otaegui D, Izquierdo G, Comabella
            M, Urcelay E and Matesanz F.
  TITLE     Identification of the genetic mechanism that associates L3MBTL3 to
            multiple sclerosis
  JOURNAL   Hum Mol Genet 31 (13), 2155-2163 (2022)
   PUBMED   35088080
  REMARK    GeneRIF: Identification of the genetic mechanism that associates
            L3MBTL3 to multiple sclerosis.
REFERENCE   3  (residues 1 to 755)
  AUTHORS   Xiong J, Niu Y, Liu W, Zeng F, Cheng JF, Chen SQ and Zeng XZ.
  TITLE     Effect of L3MBTL3/PTPN9 polymorphisms on risk to alcohol-induced
            ONFH in Chinese Han population
  JOURNAL   Neurol Sci 43 (4), 2823-2830 (2022)
   PUBMED   34373992
  REMARK    GeneRIF: Effect of L3MBTL3/PTPN9 polymorphisms on risk to
            alcohol-induced ONFH in Chinese Han population.
REFERENCE   4  (residues 1 to 755)
  AUTHORS   Stielow B, Zhou Y, Cao Y, Simon C, Pogoda HM, Jiang J, Ren Y,
            Phanor SK, Rohner I, Nist A, Stiewe T, Hammerschmidt M, Shi Y,
            Bulyk ML, Wang Z and Liefke R.
  TITLE     The SAM domain-containing protein 1 (SAMD1) acts as a repressive
            chromatin regulator at unmethylated CpG islands
  JOURNAL   Sci Adv 7 (20) (2021)
   PUBMED   33980486
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 755)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 755)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   7  (residues 1 to 755)
  AUTHORS   Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN,
            Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S,
            Ferreira T, Wood AR, Weyant RJ, Segre AV, Speliotes EK, Wheeler E,
            Soranzo N, Park JH, Yang J, Gudbjartsson D, Heard-Costa NL, Randall
            JC, Qi L, Vernon Smith A, Magi R, Pastinen T, Liang L, Heid IM,
            Luan J, Thorleifsson G, Winkler TW, Goddard ME, Sin Lo K, Palmer C,
            Workalemahu T, Aulchenko YS, Johansson A, Zillikens MC, Feitosa MF,
            Esko T, Johnson T, Ketkar S, Kraft P, Mangino M, Prokopenko I,
            Absher D, Albrecht E, Ernst F, Glazer NL, Hayward C, Hottenga JJ,
            Jacobs KB, Knowles JW, Kutalik Z, Monda KL, Polasek O, Preuss M,
            Rayner NW, Robertson NR, Steinthorsdottir V, Tyrer JP, Voight BF,
            Wiklund F, Xu J, Zhao JH, Nyholt DR, Pellikka N, Perola M, Perry
            JR, Surakka I, Tammesoo ML, Altmaier EL, Amin N, Aspelund T,
            Bhangale T, Boucher G, Chasman DI, Chen C, Coin L, Cooper MN, Dixon
            AL, Gibson Q, Grundberg E, Hao K, Juhani Junttila M, Kaplan LM,
            Kettunen J, Konig IR, Kwan T, Lawrence RW, Levinson DF, Lorentzon
            M, McKnight B, Morris AP, Muller M, Suh Ngwa J, Purcell S, Rafelt
            S, Salem RM, Salvi E, Sanna S, Shi J, Sovio U, Thompson JR, Turchin
            MC, Vandenput L, Verlaan DJ, Vitart V, White CC, Ziegler A, Almgren
            P, Balmforth AJ, Campbell H, Citterio L, De Grandi A, Dominiczak A,
            Duan J, Elliott P, Elosua R, Eriksson JG, Freimer NB, Geus EJ,
            Glorioso N, Haiqing S, Hartikainen AL, Havulinna AS, Hicks AA, Hui
            J, Igl W, Illig T, Jula A, Kajantie E, Kilpelainen TO, Koiranen M,
            Kolcic I, Koskinen S, Kovacs P, Laitinen J, Liu J, Lokki ML,
            Marusic A, Maschio A, Meitinger T, Mulas A, Pare G, Parker AN,
            Peden JF, Petersmann A, Pichler I, Pietilainen KH, Pouta A,
            Ridderstrale M, Rotter JI, Sambrook JG, Sanders AR, Schmidt CO,
            Sinisalo J, Smit JH, Stringham HM, Bragi Walters G, Widen E, Wild
            SH, Willemsen G, Zagato L, Zgaga L, Zitting P, Alavere H, Farrall
            M, McArdle WL, Nelis M, Peters MJ, Ripatti S, van Meurs JB, Aben
            KK, Ardlie KG, Beckmann JS, Beilby JP, Bergman RN, Bergmann S,
            Collins FS, Cusi D, den Heijer M, Eiriksdottir G, Gejman PV, Hall
            AS, Hamsten A, Huikuri HV, Iribarren C, Kahonen M, Kaprio J,
            Kathiresan S, Kiemeney L, Kocher T, Launer LJ, Lehtimaki T,
            Melander O, Mosley TH Jr, Musk AW, Nieminen MS, O'Donnell CJ,
            Ohlsson C, Oostra B, Palmer LJ, Raitakari O, Ridker PM, Rioux JD,
            Rissanen A, Rivolta C, Schunkert H, Shuldiner AR, Siscovick DS,
            Stumvoll M, Tonjes A, Tuomilehto J, van Ommen GJ, Viikari J, Heath
            AC, Martin NG, Montgomery GW, Province MA, Kayser M, Arnold AM,
            Atwood LD, Boerwinkle E, Chanock SJ, Deloukas P, Gieger C, Gronberg
            H, Hall P, Hattersley AT, Hengstenberg C, Hoffman W, Lathrop GM,
            Salomaa V, Schreiber S, Uda M, Waterworth D, Wright AF, Assimes TL,
            Barroso I, Hofman A, Mohlke KL, Boomsma DI, Caulfield MJ, Cupples
            LA, Erdmann J, Fox CS, Gudnason V, Gyllensten U, Harris TB, Hayes
            RB, Jarvelin MR, Mooser V, Munroe PB, Ouwehand WH, Penninx BW,
            Pramstaller PP, Quertermous T, Rudan I, Samani NJ, Spector TD,
            Volzke H, Watkins H, Wilson JF, Groop LC, Haritunians T, Hu FB,
            Kaplan RC, Metspalu A, North KE, Schlessinger D, Wareham NJ, Hunter
            DJ, O'Connell JR, Strachan DP, Wichmann HE, Borecki IB, van Duijn
            CM, Schadt EE, Thorsteinsdottir U, Peltonen L, Uitterlinden AG,
            Visscher PM, Chatterjee N, Loos RJ, Boehnke M, McCarthy MI,
            Ingelsson E, Lindgren CM, Abecasis GR, Stefansson K, Frayling TM
            and Hirschhorn JN.
  TITLE     Hundreds of variants clustered in genomic loci and biological
            pathways affect human height
  JOURNAL   Nature 467 (7317), 832-838 (2010)
   PUBMED   20881960
REFERENCE   8  (residues 1 to 755)
  AUTHORS   Gudbjartsson DF, Walters GB, Thorleifsson G, Stefansson H,
            Halldorsson BV, Zusmanovich P, Sulem P, Thorlacius S, Gylfason A,
            Steinberg S, Helgadottir A, Ingason A, Steinthorsdottir V,
            Olafsdottir EJ, Olafsdottir GH, Jonsson T, Borch-Johnsen K, Hansen
            T, Andersen G, Jorgensen T, Pedersen O, Aben KK, Witjes JA,
            Swinkels DW, den Heijer M, Franke B, Verbeek AL, Becker DM, Yanek
            LR, Becker LC, Tryggvadottir L, Rafnar T, Gulcher J, Kiemeney LA,
            Kong A, Thorsteinsdottir U and Stefansson K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
REFERENCE   9  (residues 1 to 755)
  AUTHORS   Lu J, Ruhf ML, Perrimon N and Leder P.
  TITLE     A genome-wide RNA interference screen identifies putative chromatin
            regulators essential for E2F repression
  JOURNAL   Proc Natl Acad Sci U S A 104 (22), 9381-9386 (2007)
   PUBMED   17517653
REFERENCE   10 (residues 1 to 755)
  AUTHORS   Arai S and Miyazaki T.
  TITLE     Impaired maturation of myeloid progenitors in mice lacking novel
            Polycomb group protein MBT-1
  JOURNAL   EMBO J 24 (10), 1863-1873 (2005)
   PUBMED   15889154
  REMARK    GeneRIF: The mouse MBT-1 protein influences myelopoiesis by
            transiently enhancing p57(KIP2) expression levels.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356579.24, AL583846.9 and
            AL355581.14.
            On Oct 19, 2016 this sequence version replaced XP_016866845.1.
            
            Summary: This gene encodes a member of the malignant brain tumor
            (MBT) family of chromatin interacting transcriptional repressors.
            Members of this family function as methyl-lysine readers, which
            recognize methylated lysine residues on histone protein tails, and
            are associated with the repression of gene expression. The encoded
            protein may regulate hematopoiesis. Homozygous deletion of this
            gene has been observed in human patients with medulloblastoma.
            [provided by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            lacks an alternate in-frame exon in the 5' coding region compared
            to variant 1. The resulting isoform (b) has the same N- and
            C-termini but is shorter compared to isoform a. Variants 2-4 encode
            the same isoform (b).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.3178171.1,
                                           SRR1660803.157491.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..755
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.1"
     Protein         1..755
                     /product="lethal(3)malignant brain tumor-like protein 3
                     isoform b"
                     /note="lethal(3)malignant brain tumor-like protein 3;
                     H-l(3)mbt-like protein 3; l(3)mbt-like 3; L3MBTL3, histone
                     methyl-lysine binding protein; L3mbt-like 3"
                     /calculated_mol_wt=85626
     Region          234..334
                     /region_name="MBT_L3MBTL3_rpt1"
                     /note="first malignant brain tumor (MBT) repeat found in
                     Lethal(3)malignant brain tumor-like protein 3 (L3MBTL3);
                     cd20132"
                     /db_xref="CDD:439122"
     Site            order(249,252,255,257,273,276,280)
                     /site_type="other"
                     /note="methyllysine peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:439122"
     Region          341..433
                     /region_name="MBT_L3MBTL3_rpt2"
                     /note="second malignant brain tumor (MBT) repeat found in
                     Lethal(3)malignant brain tumor-like protein 3 (L3MBTL3);
                     cd20135"
                     /db_xref="CDD:439125"
     Site            order(356,359,362,364,380,383,387)
                     /site_type="other"
                     /note="methyllysine peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:439125"
     Region          442..519
                     /region_name="MBT_L3MBTL3_rpt3"
                     /note="third malignant brain tumor (MBT) repeat found in
                     Lethal(3)malignant brain tumor-like protein 3 (L3MBTL3);
                     cd20138"
                     /db_xref="CDD:439128"
     Site            order(460,463,466,468,484,487,491)
                     /site_type="other"
                     /note="methyllysine peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:439128"
     Region          680..745
                     /region_name="SAM_Scm-like-3MBT3,4"
                     /note="SAM domain of Scm-like-3MBT3,4 proteins of Polycomb
                     group; cd09582"
                     /db_xref="CDD:188981"
     Site            order(709..711,713..714,717..718,721..722,727)
                     /site_type="other"
                     /note="putative oligomer interface ML [polypeptide
                     binding]"
                     /db_xref="CDD:188981"
     Site            order(730..733,735..736,739,742)
                     /site_type="other"
                     /note="putative oligomer interface EH [polypeptide
                     binding]"
                     /db_xref="CDD:188981"
     CDS             1..755
                     /gene="L3MBTL3"
                     /gene_synonym="MBT-1; MBT1"
                     /coded_by="NM_001346550.2:165..2432"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS34538.1"
                     /db_xref="GeneID:84456"
                     /db_xref="HGNC:HGNC:23035"
                     /db_xref="MIM:618844"
ORIGIN      
        1 mtesasstsg qefdvfsvmd wkdgvgtlpg sdlkfrvnef galevitden emenvkkata
       61 tttwmvptaq evfsektgmp frlkdpvkve glqfcenccq ygnvdeclsg gnycsqncar
      121 hikdkdqkee rdveedneee dpkcsrkkkp klslkadtke dgeerddeme nkqdvrilrg
      181 sqrarrkrrg dsavlkqglp pkgkkawcwa syleeekava vpaklfkehq sfpynkngfk
      241 vgmklegvdp ehqsvycvlt vaevcgyrik lhfdgysdcy dfwvnadald ihpvgwcekt
      301 ghklhppkgy keeefnwqty lktckaqaap kslfenqnit vipsgfrvgm kleavdkknp
      361 sficvatvtd mvdnrflvhf dnwdesydyw ceassphihp vgwckehrrt litppgypnv
      421 khfswdkyle etnslpapar afkvkpphgf qkkmklevvd krnpmfirva tvadtddhrv
      481 kvhfdgwnnc ydywidadsp dihpvgwcsk tghplqppls plelmeaseh ggcstpgckg
      541 ighfkrarhl gphsaancpy seinlnkdri fpdrlsgemp paspsfprnk rtdanessss
      601 peirdqhadd vkedfeerte semrtshear gareeptvqq aqrrsavfls fkspipclpl
      661 rweqqskllp tvagipaskv skwstdevse fiqslpgcee hgkvfkdeqi dgeafllmtq
      721 tdivkimsik lgpalkifns ilmfkaaekn shnel
//
LOCUS       NP_001278913            1439 aa            linear   PRI 07-FEB-2023
DEFINITION  receptor-type tyrosine-protein phosphatase kappa isoform f
            precursor [Homo sapiens].
ACCESSION   NP_001278913 XP_005267142 XP_006725083
VERSION     NP_001278913.1
DBSOURCE    REFSEQ: accession NM_001291984.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1439)
  AUTHORS   Hay IM, Shamin M, Caroe ER, Mohammed ASA, Svergun DI, Jeffries CM,
            Graham SC, Sharpe HJ and Deane JE.
  TITLE     Determinants of receptor tyrosine phosphatase homophilic adhesion:
            Structural comparison of PTPRK and PTPRM extracellular domains
  JOURNAL   J Biol Chem 299 (1), 102750 (2023)
   PUBMED   36436563
  REMARK    GeneRIF: Determinants of receptor tyrosine phosphatase homophilic
            adhesion: Structural comparison of PTPRK and PTPRM extracellular
            domains.
REFERENCE   2  (residues 1 to 1439)
  AUTHORS   Nanayakkara M, Bellomo C, Furone F, Maglio M, Marano A, Lania G,
            Porpora M, Nicoletti M, Auricchio S and Barone MV.
  TITLE     PTPRK, an EGFR Phosphatase, Is Decreased in CeD Biopsies and
            Intestinal Organoids
  JOURNAL   Cells 12 (1), 115 (2022)
   PUBMED   36611909
  REMARK    GeneRIF: PTPRK, an EGFR Phosphatase, Is Decreased in CeD Biopsies
            and Intestinal Organoids.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1439)
  AUTHORS   Jeong JH, Yun JW, Kim HY, Heo CY and Lee S.
  TITLE     Investigation of cell signalings and therapeutic targets in
            PTPRK-RSPO3 fusion-positive colorectal cancer
  JOURNAL   PLoS One 17 (9), e0274555 (2022)
   PUBMED   36129915
  REMARK    GeneRIF: Investigation of cell signalings and therapeutic targets
            in PTPRK-RSPO3 fusion-positive colorectal cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1439)
  AUTHORS   Kim M, Reinhard C and Niehrs C.
  TITLE     A MET-PTPRK kinase-phosphatase rheostat controls ZNRF3 and Wnt
            signaling
  JOURNAL   Elife 10, e70885 (2021)
   PUBMED   34590584
  REMARK    GeneRIF: A MET-PTPRK kinase-phosphatase rheostat controls ZNRF3 and
            Wnt signaling.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1439)
  AUTHORS   Pais RJ.
  TITLE     Simulation of multiple microenvironments shows a pivot role of
            RPTPs on the control of Epithelial-to-Mesenchymal Transition
  JOURNAL   Biosystems 198, 104268 (2020)
   PUBMED   33068671
  REMARK    GeneRIF: Simulation of multiple microenvironments shows a pivot
            role of RPTPs on the control of Epithelial-to-Mesenchymal
            Transition.
REFERENCE   6  (residues 1 to 1439)
  AUTHORS   Yang Y, Gil MC, Choi EY, Park SH, Pyun KH and Ha H.
  TITLE     Molecular cloning and chromosomal localization of a human gene
            homologous to the murine R-PTP-kappa, a receptor-type protein
            tyrosine phosphatase
  JOURNAL   Gene 186 (1), 77-82 (1997)
   PUBMED   9047348
REFERENCE   7  (residues 1 to 1439)
  AUTHORS   Yang Y, Gil M, Byun SM, Choi I, Pyun KH and Ha H.
  TITLE     Transforming growth factor-beta1 inhibits human keratinocyte
            proliferation by upregulation of a receptor-type tyrosine
            phosphatase R-PTP-kappa gene expression
  JOURNAL   Biochem Biophys Res Commun 228 (3), 807-812 (1996)
   PUBMED   8941358
REFERENCE   8  (residues 1 to 1439)
  AUTHORS   Fuchs M, Muller T, Lerch MM and Ullrich A.
  TITLE     Association of human protein-tyrosine phosphatase kappa with
            members of the armadillo family
  JOURNAL   J Biol Chem 271 (28), 16712-16719 (1996)
   PUBMED   8663237
REFERENCE   9  (residues 1 to 1439)
  AUTHORS   Zondag GC, Koningstein GM, Jiang YP, Sap J, Moolenaar WH and
            Gebbink MF.
  TITLE     Homophilic interactions mediated by receptor tyrosine phosphatases
            mu and kappa. A critical role for the novel extracellular MAM
            domain
  JOURNAL   J Biol Chem 270 (24), 14247-14250 (1995)
   PUBMED   7782276
  REMARK    Erratum:[J Biol Chem 1995 Oct 13;270(41):24621]
REFERENCE   10 (residues 1 to 1439)
  AUTHORS   Sap J, Jiang YP, Friedlander D, Grumet M and Schlessinger J.
  TITLE     Receptor tyrosine phosphatase R-PTP-kappa mediates homophilic
            binding
  JOURNAL   Mol Cell Biol 14 (1), 1-9 (1994)
   PUBMED   8264577
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB020920.1, BC144513.1, Z70660.1, AL357621.10, AL590006.4 and
            BQ018138.1.
            On or before May 14, 2014 this sequence version replaced
            XP_006725083.1, XP_005267142.1.
            
            Summary: The protein encoded by this gene is a member of the
            protein tyrosine phosphatase (PTP) family. PTPs are known to be
            signaling molecules that regulate a variety of cellular processes
            including cell growth, differentiation, mitotic cycle, and
            oncogenic transformation. This PTP possesses an extracellular
            region, a single transmembrane region, and two tandem catalytic
            domains, and thus represents a receptor-type PTP. The extracellular
            region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like
            domain and four fibronectin type III-like repeats. This PTP was
            shown to mediate homophilic intercellular interaction, possibly
            through the interaction with beta- and gamma-catenin at adherens
            junctions. Expression of this gene was found to be stimulated by
            TGF-beta 1, which may be important for the inhibition of
            keratinocyte proliferation. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (6) lacks three alternate in-frame
            exons and uses an alternate in-frame splice junction compared to
            variant 3. The resulting isoform (f) has the same N- and C-termini
            but is shorter compared to isoform c.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Z70660.1, SRR14038192.2408183.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1439
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.33"
     Protein         1..1439
                     /product="receptor-type tyrosine-protein phosphatase kappa
                     isoform f precursor"
                     /EC_number="3.1.3.48"
                     /note="protein-tyrosine phosphatase, receptor type, kappa;
                     protein-tyrosine phosphatase kappa; receptor-type
                     tyrosine-protein phosphatase kappa; dJ480J14.2.1 (protein
                     tyrosine phosphatase, receptor type, K (R-PTP-KAPPA,
                     protein tyrosine phosphatase kappa, protein tyrosine
                     phosphatase kappa"
                     /calculated_mol_wt=159410
     sig_peptide     1..27
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2711
     Region          32..192
                     /region_name="MAM"
                     /note="Domain in meprin, A5, receptor protein tyrosine
                     phosphatase mu (and others); smart00137"
                     /db_xref="CDD:214533"
     Site            101
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15262.2)"
     Site            140
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15262.2)"
     Region          202..288
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Site            211
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15262.2)"
     Region          212..216
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          226..232
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          253..257
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          267..272
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            order(292,355,372)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          294..371
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(373..374,376..377)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            416
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (Q15262.2)"
     Site            424
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15262.2)"
     Site            436
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15262.2)"
     Site            462
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15262.2)"
     Region          488..583
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            552
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15262.2)"
     Site            order(579..580,581..582)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            586
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15262.2)"
     Site            590
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15262.2)"
     Site            607
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15262.2)"
     Site            643..644
                     /site_type="cleavage"
                     /note="Cleavage. /evidence=ECO:0000305; propagated from
                     UniProtKB/Swiss-Prot (Q15262.2)"
     Site            690
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15262.2)"
     Site            753..774
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15262.2)"
     Site            856
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P35822; propagated from
                     UniProtKB/Swiss-Prot (Q15262.2)"
     Region          871..1143
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     Region          1229..1434
                     /region_name="R-PTPc-K-2"
                     /note="PTP domain of receptor-type tyrosine-protein
                     phosphatase K, repeat 2; cd14636"
                     /db_xref="CDD:350484"
     CDS             1..1439
                     /gene="PTPRK"
                     /gene_synonym="R-PTP-kappa"
                     /coded_by="NM_001291984.2:242..4561"
                     /note="isoform f precursor is encoded by transcript
                     variant 6"
                     /db_xref="CCDS:CCDS75517.1"
                     /db_xref="GeneID:5796"
                     /db_xref="HGNC:HGNC:9674"
                     /db_xref="MIM:602545"
ORIGIN      
        1 mdttaaaalp afvallllsp wpllgsaqgq fsaggctfdd gpgacdyhqd lyddfewvhv
       61 saqephylpp empqgsymiv dssdhdpgek arlqlptmke ndthcidfsy llysqkglnp
      121 gtlnilvrvn kgplanpiwn vtgftgrdwl raelavstfw pneyqvifea evsggrsgyi
      181 aiddiqvlsy pcdksphflr lgdvevnagq natfqciatg rdavhnklwl qrrngedipv
      241 aqtkninhrr faasfrlqev tktdqdlyrc vtqsergsgv snfaqlivre pprpiappql
      301 lgvgptylli qlnansiigd gpiilkevey rmtsgswtet havnaptykl whldpdteye
      361 irvlltrpge ggtglpgppl itrtkcaepm rtpktlkiae iqarriavdw eslgynitrc
      421 htfnvticyh yfrghneska dcldmdpkap qhvvnhlppy tnvslkmilt npegrkesee
      481 tiiqtdedvp gpvpvkslqg tsfenkifln wkepldpngi itqyeisyss irsfdpavpv
      541 agppqtvsnl wnsthhvfmh lhpgttyqff irastvkgfg patainvttn isaptlpdye
      601 gvdaslneta ttitvllrpa qakgapisay qivveelhph rtkreagame cyqvpvtyqn
      661 amsggapyyf aaelppgnlp epapftvgdn rtyqgfwnpp laprkgyniy fqamssveke
      721 tktqcvriat kaateepevi pdpakqtdrv vkiagisagi lvfillllvv ilivkkskla
      781 kkrkdamgnt rqemthmvna mdrsyadqst lhaedplsit fmdqhnfspr yenhsataes
      841 srlldvpryl cegtespyqt gqlhpairva dllqhinlmk tsdsygfkee yesffegqsa
      901 swdvakkdqn raknrygnii aydhsrvilq pveddpssdy inanyidgyq rpshyiatqg
      961 pvhetvydfw rmiwqeqsac ivmvtnlvev grvkcykywp ddtevygdfk vtcvemepla
     1021 eyvvrtftle rrgyneirev kqfhftgwpd hgvpyhatgl lsfirrvkls nppsagpivv
     1081 hcsagagrtg cyividimld maeregvvdi yncvkalrsr rinmvqteeq yifihdaile
     1141 aclcgetaip vcefkaayfd miridsqtns shlkdefqtl nsvtprlqae dcsiaclprn
     1201 hdknrfmdml ppdrclpfli tidgessnyi naalmdsyrq paafivtqyp lpntvkdfwr
     1261 lvydygctsi vmlnevdlsq gcpqywpeeg mlrygpiqve cmscsmdcdv inrifricnl
     1321 trpqegylmv qqfqylgwas hrevpgskrs flklilqvek wqeeceegeg rtiihclngg
     1381 grsgmfcaig ivvemvkrqn vvdvfhavkt lrnskpnmve apeqyrfcyd valeyless
//
LOCUS       NP_066286                 93 aa            linear   PRI 01-MAR-2023
DEFINITION  C-C motif chemokine 3-like 1 precursor [Homo sapiens].
ACCESSION   NP_066286 XP_351119
VERSION     NP_066286.1
DBSOURCE    REFSEQ: accession NM_021006.6
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 93)
  AUTHORS   Kim YH, Lee EE, Sim HW, Kang EK, Won YH, Lee DE, Hong KM and Song
            YW.
  TITLE     CCL3L3-null status is associated with susceptibility to systemic
            lupus erythematosus
  JOURNAL   Sci Rep 11 (1), 19172 (2021)
   PUBMED   34580371
  REMARK    GeneRIF: CCL3L3-null status is associated with susceptibility to
            systemic lupus erythematosus.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 93)
  AUTHORS   Mohamad Isa II, Jamaluddin J, Achim NH and Abubakar S.
  TITLE     Population-specific profiling of CCL3L1 copy number of the three
            major ethnic groups in Malaysia and the implication on HIV
            susceptibility
  JOURNAL   Gene 754, 144821 (2020)
   PUBMED   32497559
  REMARK    GeneRIF: CCL3L1 high copy number variation is associated with HIV
            susceptibility.
REFERENCE   3  (residues 1 to 93)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 93)
  AUTHORS   Dahmani CA, Benzaoui A, Amroun H, Zemani-Fodil F, Petit-Teixeira E
            and Boudjema A.
  TITLE     Association study of copy number variants in CCL3L1, FCGR3A and
            FCGR3B genes with risk of ankylosing spondylitis in a West Algerian
            population
  JOURNAL   Int J Immunogenet 46 (6), 437-443 (2019)
   PUBMED   31433132
  REMARK    GeneRIF: CCL3L1 and FCGR3B copy number variants may not be involved
            in susceptibility to ankylosing spondylitis risk in the Algerian
            population.
REFERENCE   5  (residues 1 to 93)
  AUTHORS   Naruse K, Ueno M, Satoh T, Nomiyama H, Tei H, Takeda M, Ledbetter
            DH, Coillie EV, Opdenakker G, Gunge N, Sakaki Y, Iio M and Miura R.
  TITLE     A YAC contig of the human CC chemokine genes clustered on
            chromosome 17q11.2
  JOURNAL   Genomics 34 (2), 236-240 (1996)
   PUBMED   8661057
REFERENCE   6  (residues 1 to 93)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   7  (residues 1 to 93)
  AUTHORS   Hirashima M, Ono T, Nakao M, Nishi H, Kimura A, Nomiyama H, Hamada
            F, Yoshida MC and Shimada K.
  TITLE     Nucleotide sequence of the third cytokine LD78 gene and mapping of
            all three LD78 gene loci to human chromosome 17
  JOURNAL   DNA Seq 3 (4), 203-212 (1992)
   PUBMED   1296815
REFERENCE   8  (residues 1 to 93)
  AUTHORS   Blum S, Forsdyke RE and Forsdyke DR.
  TITLE     Three human homologs of a murine gene encoding an inhibitor of stem
            cell proliferation
  JOURNAL   DNA Cell Biol 9 (8), 589-602 (1990)
   PUBMED   2271120
REFERENCE   9  (residues 1 to 93)
  AUTHORS   Nakao M, Nomiyama H and Shimada K.
  TITLE     Structures of human genes coding for cytokine LD78 and their
            expression
  JOURNAL   Mol Cell Biol 10 (7), 3646-3658 (1990)
   PUBMED   1694014
REFERENCE   10 (residues 1 to 93)
  AUTHORS   Irving SG, Zipfel PF, Balke J, McBride OW, Morton CC, Burd PR,
            Siebenlist U and Kelly K.
  TITLE     Two inflammatory mediator cytokine genes are closely linked and
            variably amplified on chromosome 17q
  JOURNAL   Nucleic Acids Res 18 (11), 3261-3270 (1990)
   PUBMED   1972563
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC131056.5.
            On Dec 17, 2003 this sequence version replaced XP_351119.1.
            
            Summary: This gene is one of several cytokine genes that are
            clustered on the q-arm of chromosome 17. Cytokines are a family of
            secreted proteins that function in inflammatory and
            immunoregulatory processes. The protein encoded by this gene binds
            to several chemokine receptors, including chemokine binding protein
            2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a
            co-receptor for HIV, and binding of this protein to CCR5 inhibits
            HIV entry. The copy number of this gene varies among individuals,
            where most individuals have one to six copies, and a minority of
            individuals have zero or more than six copies. There are
            conflicting reports about copy number variation of this gene and
            its correlation to disease susceptibility. This record represents
            one of two copies that are present on the ALT_REF_LOCI_2 alternate
            haplotype of the GRCh38 human reference genome assembly.
            Alternative splicing of this gene results in multiple transcript
            variants. [provided by RefSeq, Apr 2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL543270.3, BU626588.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..93
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.1"
     Protein         1..93
                     /product="C-C motif chemokine 3-like 1 precursor"
                     /note="small inducible cytokine A3-like 1; chemokine (C-C
                     motif) ligand 3-like 1; G0/G1 switch regulatory protein
                     19-2; tonsillar lymphocyte LD78 beta protein"
                     /calculated_mol_wt=7798
     sig_peptide     1..23
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2381
     mat_peptide     24..93
                     /product="C-C motif chemokine 3-like 1.
                     /id=PRO_0000005161"
                     /note="propagated from UniProtKB/Swiss-Prot (P16619.1)"
                     /calculated_mol_wt=7798
     Site            25..26
                     /site_type="cleavage"
                     /note="Cleavage, by DPP4. /evidence=ECO:0000305;
                     propagated from UniProtKB/Swiss-Prot (P16619.1)"
     mat_peptide     26..93
                     /product="LD78-beta(3-70). /id=PRO_0000005162"
                     /note="propagated from UniProtKB/Swiss-Prot (P16619.1)"
                     /calculated_mol_wt=7630
     mat_peptide     28..93
                     /product="LD78-beta(5-70). /id=PRO_0000005163"
                     /note="propagated from UniProtKB/Swiss-Prot (P16619.1)"
                     /calculated_mol_wt=7445
     Region          31..89
                     /region_name="SCY"
                     /note="Intercrine alpha family (small cytokine C-X-C)
                     (chemokine CXC); smart00199"
                     /db_xref="CDD:197570"
     Site            order(34..38,40..47,57..58,80..90)
                     /site_type="active"
                     /note="putative receptor binding site [active]"
                     /db_xref="CDD:238170"
     Site            order(36,38,51,53,58,63..65,73..75,81..82,85..86,89..90)
                     /site_type="other"
                     /note="tetramer interface [polypeptide binding]"
                     /db_xref="CDD:238170"
     Site            order(36,38,55,57..58,64,72,74)
                     /site_type="other"
                     /note="dimer interface (P form) [polypeptide binding]"
                     /db_xref="CDD:238170"
     Site            order(36,64,73)
                     /site_type="active"
                     /note="putative receptor binding cleft [active]"
                     /db_xref="CDD:238170"
     Site            order(36..38,40..47)
                     /site_type="active"
                     /note="N-loop [active]"
                     /db_xref="CDD:238170"
     Site            order(38,51,53,63,65,73,75,81..82,85..86,89..90)
                     /site_type="other"
                     /note="dimer interface (I form) [polypeptide binding]"
                     /db_xref="CDD:238170"
     Site            order(40..42,45..47,69,71)
                     /site_type="other"
                     /note="putative glycosaminoglycan (GAG) binding site
                     [chemical binding]"
                     /db_xref="CDD:238170"
     Site            order(53,60,78,80,83..84,87)
                     /site_type="other"
                     /note="putative glycosaminoglycan (GAG) binding site
                     [chemical binding]"
                     /db_xref="CDD:238170"
     Site            57..58
                     /site_type="other"
                     /note="30s-loop"
                     /db_xref="CDD:238170"
     Site            order(67,69)
                     /site_type="other"
                     /note="40s-loop"
                     /db_xref="CDD:238170"
     CDS             1..93
                     /gene="CCL3L1"
                     /gene_synonym="464.2; D17S1718; G0S19-2; LD78;
                     LD78-beta(1-70); LD78BETA; MIP1AP; SCYA3L; SCYA3L1"
                     /coded_by="NM_021006.6:86..367"
                     /db_xref="GeneID:6349"
                     /db_xref="HGNC:HGNC:10628"
                     /db_xref="MIM:601395"
ORIGIN      
        1 mqvstaalav llctmalcnq vlsaplaadt ptaccfsyts rqipqnfiad yfetssqcsk
       61 psvifltkrg rqvcadpsee wvqkyvsdle lsa
//
LOCUS       NP_001387268             398 aa            linear   PRI 11-MAR-2023
DEFINITION  spermatogenesis-defective protein 39 homolog isoform 11 [Homo
            sapiens].
ACCESSION   NP_001387268
VERSION     NP_001387268.1
DBSOURCE    REFSEQ: accession NM_001400339.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 398)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 398)
  AUTHORS   Solinger JA, Rashid HO, Prescianotto-Baschong C and Spang A.
  TITLE     FERARI is required for Rab11-dependent endocytic recycling
  JOURNAL   Nat Cell Biol 22 (2), 213-224 (2020)
   PUBMED   31988382
  REMARK    GeneRIF: The Rab-binding module of FERARI (factors for endosome
            recycling and Rab interactions) consists of Rab11FIP5 and
            rabenosyn-5, while the SNARE-interacting module comprises VPS45 and
            VIPAS39.
REFERENCE   3  (residues 1 to 398)
  AUTHORS   Ambrosio AL and Di Pietro SM.
  TITLE     Mechanism of platelet alpha-granule biogenesis: study of cargo
            transport and the VPS33B-VPS16B complex in a model system
  JOURNAL   Blood Adv 3 (17), 2617-2626 (2019)
   PUBMED   31501156
  REMARK    GeneRIF: Mechanism of platelet alpha-granule biogenesis: study of
            cargo transport and the VPS33B-VPS16B complex in a model system.
REFERENCE   4  (residues 1 to 398)
  AUTHORS   Hunter MR, Hesketh GG, Benedyk TH, Gingras AC and Graham SC.
  TITLE     Proteomic and Biochemical Comparison of the Cellular Interaction
            Partners of Human VPS33A and VPS33B
  JOURNAL   J Mol Biol 430 (14), 2153-2163 (2018)
   PUBMED   29778605
REFERENCE   5  (residues 1 to 398)
  AUTHORS   Shagrani M, Burkholder J, Broering D, Abouelhoda M, Faquih T,
            El-Kalioby M, Subhani SN, Goljan E, Albar R, Monies D, Mazhar N,
            AlAbdulaziz BS, Abdelrahman KA, Altassan N and Alkuraya FS.
  TITLE     Genetic profiling of children with advanced cholestatic liver
            disease
  JOURNAL   Clin Genet 92 (1), 52-61 (2017)
   PUBMED   28039895
  REMARK    GeneRIF: A likely causal mutation was identified in the majority
            (61%), spanning many genes including ones that have only rarely
            been reported to cause cholestatic liver disease, e.g. TJP2 and
            VIPAS39
REFERENCE   6  (residues 1 to 398)
  AUTHORS   Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y,
            Bruce CK, Luo G, Rahman F, Gurakan F, Utine E, Ozkan TB, Denecke J,
            Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG,
            Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Muller F,
            Maher ER and Gissen P.
  TITLE     Mutations in VIPAR cause an arthrogryposis, renal dysfunction and
            cholestasis syndrome phenotype with defects in epithelial
            polarization
  JOURNAL   Nat Genet 42 (4), 303-312 (2010)
   PUBMED   20190753
  REMARK    Erratum:[Nat Genet. 2011 Mar;43(3):277]
REFERENCE   7  (residues 1 to 398)
  AUTHORS   Zhu GD, Salazar G, Zlatic SA, Fiza B, Doucette MM, Heilman CJ,
            Levey AI, Faundez V and L'hernault SW.
  TITLE     SPE-39 family proteins interact with the HOPS complex and function
            in lysosomal delivery
  JOURNAL   Mol Biol Cell 20 (4), 1223-1240 (2009)
   PUBMED   19109425
  REMARK    GeneRIF: SPE-39 homologues are present in RAB5-, RAB7-, and
            RAB11-positive endosomes where they play a conserved role in
            lysosomal delivery and probably function via their interaction with
            the core HOPS complex.
REFERENCE   8  (residues 1 to 398)
  AUTHORS   Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM,
            Polakiewicz RD and Comb MJ.
  TITLE     Immunoaffinity profiling of tyrosine phosphorylation in cancer
            cells
  JOURNAL   Nat Biotechnol 23 (1), 94-101 (2005)
   PUBMED   15592455
REFERENCE   9  (residues 1 to 398)
  AUTHORS   Ballif BA, Villen J, Beausoleil SA, Schwartz D and Gygi SP.
  TITLE     Phosphoproteomic analysis of the developing mouse brain
  JOURNAL   Mol Cell Proteomics 3 (11), 1093-1101 (2004)
   PUBMED   15345747
REFERENCE   10 (residues 1 to 398)
  AUTHORS   Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C,
            Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A,
            Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H,
            Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon
            O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere
            F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R,
            Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A,
            Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S,
            Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C,
            Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S,
            Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C,
            Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P,
            Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois
            M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V,
            Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J,
            Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F,
            Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F,
            Waterston R, Hood L and Weissenbach J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF111168.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.2603952.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..398
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     Protein         1..398
                     /product="spermatogenesis-defective protein 39 homolog
                     isoform 11"
                     /note="VPS33B-interacting protein involved in polarity and
                     apical protein restriction; spermatogenesis-defective
                     protein 39 homolog"
                     /calculated_mol_wt=45675
     Site            21
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H9C1.1)"
     Region          68..99
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9C1.1)"
     Site            117
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8BGQ1; propagated from
                     UniProtKB/Swiss-Prot (Q9H9C1.1)"
     Site            121
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9H9C1.1)"
     Region          123..152
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9C1.1)"
     Site            124
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H9C1.1)"
     Site            130
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H9C1.1)"
     Site            132
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9H9C1.1)"
     CDS             1..398
                     /gene="VIPAS39"
                     /gene_synonym="C14orf133; hSPE-39; SPE-39; SPE39; VIPAR;
                     VPS16B"
                     /coded_by="NM_001400339.1:108..1304"
                     /note="isoform 11 is encoded by transcript variant 19"
                     /db_xref="GeneID:63894"
                     /db_xref="HGNC:HGNC:20347"
                     /db_xref="MIM:613401"
ORIGIN      
        1 mnrtkgdeee ywnsskfkaf tfddeddels qlkeskravn slrdfvdddd dddlervsws
       61 gepvgsisws iretagnsgs thegreqlks rnsfssyaql pkptstysls sffrgrtrpg
      121 sfqslsdals dtpaksyape lgrpkgeyrd ysndwspsdt vrrlrkgkvc slerfrslqd
      181 klqlleeavs mhdgnvitav liflkrtlsk eilfrelevr qvalrhlihf lkeigdqkll
      241 ldlfrfldrt eelagtfssp vnlkktfkip dkqyvltala araklrawnd vdalfttknw
      301 lgytkkrapi gfhrvveilh knnapvqilq eyvnlvedvd tklnlatkfk chdvvidtyr
      361 dlkdrqqlla yrskvdkgsa eeekidalls ssqirwkn
//
LOCUS       NP_000317                317 aa            linear   PRI 14-MAR-2023
DEFINITION  retinaldehyde-binding protein 1 [Homo sapiens].
ACCESSION   NP_000317
VERSION     NP_000317.1
DBSOURCE    REFSEQ: accession NM_000326.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 317)
  AUTHORS   Richard,A.J., Huckfeldt,R.M., Reichel,E. and Liang,M.C.
  TITLE     Variants of Uncertain Significance: Twins With Identical Pathogenic
            Gene Mutations in Retinitis Punctata Albescens
  JOURNAL   Ophthalmic Surg Lasers Imaging Retina 52 (8), 450-453 (2021)
   PUBMED   34410188
  REMARK    GeneRIF: Variants of Uncertain Significance: Twins With Identical
            Pathogenic Gene Mutations in Retinitis Punctata Albescens.
REFERENCE   2  (residues 1 to 317)
  AUTHORS   Sparrow JR, Parmann R, Tsang SH, Allikmets R, Chang S and Jauregui
            R.
  TITLE     Shared Features in Retinal Disorders With Involvement of Retinal
            Pigment Epithelium
  JOURNAL   Invest Ophthalmol Vis Sci 62 (7), 15 (2021)
   PUBMED   34115091
  REMARK    GeneRIF: Shared Features in Retinal Disorders With Involvement of
            Retinal Pigment Epithelium.
REFERENCE   3  (residues 1 to 317)
  AUTHORS   Al-Bdour M, Pauleck S, Dardas Z, Barham R, Ali D, Amr S, Mustafa L,
            Abu-Ameerh M, Maswadi R, Azab B and Awidi A.
  TITLE     Clinical heterogeneity in retinitis pigmentosa caused by variants
            in RP1 and RLBP1 in five extended consanguineous pedigrees
  JOURNAL   Mol Vis 26, 445-458 (2020)
   PUBMED   32587456
  REMARK    GeneRIF: Clinical heterogeneity in retinitis pigmentosa caused by
            variants in RP1 and RLBP1 in five extended consanguineous
            pedigrees.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 317)
  AUTHORS   Lima de Carvalho JR Jr, Kim HJ, Ueda K, Zhao J, Owji AP, Yang T,
            Tsang SH and Sparrow JR.
  TITLE     Effects of deficiency in the RLBP1-encoded visual cycle protein
            CRALBP on visual dysfunction in humans and mice
  JOURNAL   J Biol Chem 295 (19), 6767-6780 (2020)
   PUBMED   32188692
  REMARK    GeneRIF: Effects of deficiency in the RLBP1-encoded visual cycle
            protein CRALBP on visual dysfunction in humans and mice.
REFERENCE   5  (residues 1 to 317)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 317)
  AUTHORS   Dunn KC, Aotaki-Keen AE, Putkey FR and Hjelmeland LM.
  TITLE     ARPE-19, a human retinal pigment epithelial cell line with
            differentiated properties
  JOURNAL   Exp Eye Res 62 (2), 155-169 (1996)
   PUBMED   8698076
REFERENCE   7  (residues 1 to 317)
  AUTHORS   Intres R, Goldflam S, Cook JR and Crabb JW.
  TITLE     Molecular cloning and structural analysis of the human gene
            encoding cellular retinaldehyde-binding protein
  JOURNAL   J Biol Chem 269 (41), 25411-25418 (1994)
   PUBMED   7929238
REFERENCE   8  (residues 1 to 317)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   9  (residues 1 to 317)
  AUTHORS   Sparkes RS, Heinzmann C, Goldflam S, Kojis T, Saari JC, Mohandas T,
            Klisak I, Bateman JB and Crabb JW.
  TITLE     Assignment of the gene (RLBP1) for cellular retinaldehyde-binding
            protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7
  JOURNAL   Genomics 12 (1), 58-62 (1992)
   PUBMED   1733864
REFERENCE   10 (residues 1 to 317)
  AUTHORS   Crabb JW, Goldflam S, Harris SE and Saari JC.
  TITLE     Cloning of the cDNAs encoding the cellular retinaldehyde-binding
            protein from bovine and human retina and comparison of the protein
            structures
  JOURNAL   J Biol Chem 263 (35), 18688-18692 (1988)
   PUBMED   3198595
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124068.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a 36-kD water-soluble
            protein which carries 11-cis-retinaldehyde or 11-cis-retinal as
            physiologic ligands. It may be a functional component of the visual
            cycle. Mutations of this gene have been associated with severe
            rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal
            recessive retinitis pigmentosa) and retinitis punctata albescens.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC004199.2, SRR1803611.244325.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2157437
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000268125.10/ ENSP00000268125.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..317
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     Protein         1..317
                     /product="retinaldehyde-binding protein 1"
                     /note="cellular retinaldehyde-binding protein-1"
                     /calculated_mol_wt=36343
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0000250|UniProtKB:P10123; propagated from
                     UniProtKB/Swiss-Prot (P12271.2)"
     Region          60..117
                     /region_name="CRAL_TRIO_N"
                     /note="CRAL/TRIO, N-terminal domain; smart01100"
                     /db_xref="CDD:215024"
     Region          139..294
                     /region_name="SEC14"
                     /note="Domain in homologues of a S. cerevisiae
                     phosphatidylinositol transfer protein (Sec14p);
                     smart00516"
                     /db_xref="CDD:214706"
     Site            order(157,159,161,187,202,204,220,224,228,232,235,238,240,
                     247,254,266)
                     /site_type="other"
                     /note="phospholipid binding pocket [chemical binding]"
                     /db_xref="CDD:238099"
     Site            order(233,265)
                     /site_type="other"
                     /note="salt bridge"
                     /db_xref="CDD:238099"
     CDS             1..317
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /coded_by="NM_000326.5:269..1222"
                     /db_xref="CCDS:CCDS32324.1"
                     /db_xref="GeneID:6017"
                     /db_xref="HGNC:HGNC:10024"
                     /db_xref="MIM:180090"
ORIGIN      
        1 msegvgtfrm vpeeeqelra qleqlttkdh gpvfgpcsql prhtlqkakd elnereetre
       61 eavrelqemv qaqaasgeel avavaervqe kdsgfflrfi rarkfnvgra yellrgyvnf
      121 rlqypelfds lspeavrcti eagypgvlss rdkygrvvml fnienwqsqe itfdeilqay
      181 cfilekllen eetqingfci ienfkgftmq qaaslrtsdl rkmvdmlqds fparfkaihf
      241 ihqpwyfttt ynvvkpflks kllervfvhg ddlsgfyqei denilpsdfg gtlpkydgka
      301 vaeqlfgpqa qaentaf
//
LOCUS       NP_001243731             243 aa            linear   PRI 14-MAR-2023
DEFINITION  40S ribosomal protein S3 isoform 1 [Homo sapiens].
ACCESSION   NP_001243731
VERSION     NP_001243731.1
DBSOURCE    REFSEQ: accession NM_001256802.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 243)
  AUTHORS   Ochkasova A, Arbuzov G, Kabilov M, Tupikin A, Karpova G and Graifer
            D.
  TITLE     AP lyase activity of the human ribosomal protein uS3: The DNA
            cleavage sequence specificity and the location of the enzyme active
            center
  JOURNAL   Biochim Biophys Acta Proteins Proteom 1871 (2), 140880 (2023)
   PUBMED   36396097
  REMARK    GeneRIF: AP lyase activity of the human ribosomal protein uS3: The
            DNA cleavage sequence specificity and the location of the enzyme
            active center.
REFERENCE   2  (residues 1 to 243)
  AUTHORS   Wang T, Jin C, Yang P, Chen Z, Ji J, Sun Q, Yang S, Feng Y, Tang J
            and Sun Y.
  TITLE     UBE2J1 inhibits colorectal cancer progression by promoting
            ubiquitination and degradation of RPS3
  JOURNAL   Oncogene 42 (9), 651-664 (2023)
   PUBMED   36567344
  REMARK    GeneRIF: UBE2J1 inhibits colorectal cancer progression by promoting
            ubiquitination and degradation of RPS3.
REFERENCE   3  (residues 1 to 243)
  AUTHORS   Shi J, Zhang T, Yang ZG, Chen FL and Zhang WS.
  TITLE     RPS3 predicts poor overall survival in HBV-related hepatocellular
            carcinoma patients: a data-mining with LASSO-regression algorithm
  JOURNAL   Eur Rev Med Pharmacol Sci 26 (18), 6742-6753 (2022)
   PUBMED   36196722
  REMARK    GeneRIF: RPS3 predicts poor overall survival in HBV-related
            hepatocellular carcinoma patients: a data-mining with
            LASSO-regression algorithm.
REFERENCE   4  (residues 1 to 243)
  AUTHORS   Jirapongwattana N, Thongchot S, Chiraphapphaiboon W, Chieochansin
            T, Sa-Nguanraksa D, Warnnissorn M, Thuwajit P, Yenchitsomanus PT
            and Thuwajit C.
  TITLE     Mesothelin-specific T cell cytotoxicity against triple negative
            breast cancer is enhanced by 40s ribosomal protein subunit
            3-treated self-differentiated dendritic cells
  JOURNAL   Oncol Rep 48 (1) (2022)
   PUBMED   35616135
  REMARK    GeneRIF: Mesothelinspecific T cell cytotoxicity against triple
            negative breast cancer is enhanced by 40s ribosomal protein subunit
            3treated selfdifferentiated dendritic cells.
REFERENCE   5  (residues 1 to 243)
  AUTHORS   Liang ZX, Liu HS, Xiong L, Yang X, Wang FW, Zeng ZW, He XW, Wu XR
            and Lan P.
  TITLE     A novel NF-kappaB regulator encoded by circPLCE1 inhibits
            colorectal carcinoma progression by promoting RPS3
            ubiquitin-dependent degradation
  JOURNAL   Mol Cancer 20 (1), 103 (2021)
   PUBMED   34412652
  REMARK    GeneRIF: A novel NF-kappaB regulator encoded by circPLCE1 inhibits
            colorectal carcinoma progression by promoting RPS3
            ubiquitin-dependent degradation.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 243)
  AUTHORS   Kim J, Chubatsu LS, Admon A, Stahl J, Fellous R and Linn S.
  TITLE     Implication of mammalian ribosomal protein S3 in the processing of
            DNA damage
  JOURNAL   J Biol Chem 270 (23), 13620-13629 (1995)
   PUBMED   7775413
REFERENCE   7  (residues 1 to 243)
  AUTHORS   Polakiewicz RD, Munroe DJ, Sait SN, Tycowski KT, Nowak NJ, Shows
            TB, Housman DE and Page DC.
  TITLE     Mapping of ribosomal protein S3 and internally nested snoRNA U15A
            gene to human chromosome 11q13.3-q13.5
  JOURNAL   Genomics 25 (2), 577-580 (1995)
   PUBMED   7789996
REFERENCE   8  (residues 1 to 243)
  AUTHORS   Pogue-Geile K, Geiser JR, Shu M, Miller C, Wool IG, Meisler AI and
            Pipas JM.
  TITLE     Ribosomal protein genes are overexpressed in colorectal cancer:
            isolation of a cDNA clone encoding the human S3 ribosomal protein
  JOURNAL   Mol Cell Biol 11 (8), 3842-3849 (1991)
   PUBMED   1712897
REFERENCE   9  (residues 1 to 243)
  AUTHORS   Bommer UA, Lutsch G, Stahl J and Bielka H.
  TITLE     Eukaryotic initiation factors eIF-2 and eIF-3: interactions,
            structure and localization in ribosomal initiation complexes
  JOURNAL   Biochimie 73 (7-8), 1007-1019 (1991)
   PUBMED   1742346
  REMARK    Review article
REFERENCE   10 (residues 1 to 243)
  AUTHORS   Zhang XT, Tan YM and Tan YH.
  TITLE     Isolation of a cDNA encoding human 40S ribosomal protein s3
  JOURNAL   Nucleic Acids Res 18 (22), 6689 (1990)
   PUBMED   2129557
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC034149.1, AA976344.1 and
            AW134501.1.
            
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit, where it forms part
            of the domain where translation is initiated. The protein belongs
            to the S3P family of ribosomal proteins. Studies of the mouse and
            rat proteins have demonstrated that the protein has an
            extraribosomal role as an endonuclease involved in the repair of
            UV-induced DNA damage. The protein appears to be located in both
            the cytoplasm and nucleus but not in the nucleolus. Higher levels
            of expression of this gene in colon adenocarcinomas and adenomatous
            polyps compared to adjacent normal colonic mucosa have been
            observed. This gene is co-transcribed with the small nucleolar RNA
            genes U15A and U15B, which are located in its first and fifth
            introns, respectively. As is typical for genes encoding ribosomal
            proteins, there are multiple processed pseudogenes of this gene
            dispersed through the genome. Multiple alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (2) differs in the 3' UTR compared
            to variant 1. Variants 1 and 2 both encode the same protein
            (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.161325.1,
                                           SRR5189667.301710.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..243
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..243
                     /product="40S ribosomal protein S3 isoform 1"
                     /EC_number="4.2.99.18"
                     /note="IMR-90 ribosomal protein S3; 40S ribosomal protein
                     S3; small ribosomal subunit protein uS3"
                     /calculated_mol_wt=26557
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.10,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22814378,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Region          4..216
                     /region_name="PTZ00084"
                     /note="40S ribosomal protein S3; Provisional"
                     /db_xref="CDD:240260"
     Site            6
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKC/PRKCD.
                     /evidence=ECO:0000269|PubMed:19059439; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            35
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            42
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by MAPK.
                     /evidence=ECO:0000269|PubMed:15950189; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            62
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            64
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:19460357; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            65
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:19460357; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            67
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:19460357; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            70
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PKB.
                     /evidence=ECO:0000269|PubMed:20605787; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            104
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            209
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by IKKB.
                     /evidence=ECO:0000269|PubMed:21399639; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Region          214..243
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P23396.2)"
     Site            220
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            221
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CDK1 and PKC/PRKCD.
                     /evidence=ECO:0000269|PubMed:19059439,
                     ECO:0000269|PubMed:21871177, ECO:0000269|Ref.12,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            224
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16807684; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            242
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     CDS             1..243
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /coded_by="NM_001256802.2:31..762"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS8236.1"
                     /db_xref="GeneID:6188"
                     /db_xref="HGNC:HGNC:10420"
                     /db_xref="MIM:600454"
ORIGIN      
        1 mavqiskkrk fvadgifkae lnefltrela edgysgvevr vtptrteiii latrtqnvlg
       61 ekgrrirelt avvqkrfgfp egsvelyaek vatrglcaia qaeslrykll gglavrracy
      121 gvlrfimesg akgcevvvsg klrgqraksm kfvdglmihs gdpvnyyvdt avrhvllrqg
      181 vlgikvkiml pwdptgkigp kkplpdhvsi vepkdeilpt tpiseqkggk peppampqpv
      241 pta
//
LOCUS       NP_001364361             851 aa            linear   PRI 18-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 33 isoform 6 [Homo sapiens].
ACCESSION   NP_001364361 XP_005270706
VERSION     NP_001364361.1
DBSOURCE    REFSEQ: accession NM_001377432.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 851)
  AUTHORS   Han PP, Zhang GQ, Li L and Yue L.
  TITLE     Downregulation of USP33 inhibits Slit/Robo signaling pathway and is
            associated with poor patient survival of glioma
  JOURNAL   J Neurosurg Sci 67 (1), 113-120 (2023)
   PUBMED   32972109
  REMARK    GeneRIF: Downregulation of USP33 inhibits Slit/Robo signaling
            pathway and is associated with poor patient survival of glioma.
REFERENCE   2  (residues 1 to 851)
  AUTHORS   Zhang A, Huang Z, Tao W, Zhai K, Wu Q, Rich JN, Zhou W and Bao S.
  TITLE     USP33 deubiquitinates and stabilizes HIF-2alpha to promote hypoxia
            response in glioma stem cells
  JOURNAL   EMBO J 41 (7), e109187 (2022)
   PUBMED   35191554
  REMARK    GeneRIF: USP33 deubiquitinates and stabilizes HIF-2alpha to promote
            hypoxia response in glioma stem cells.
REFERENCE   3  (residues 1 to 851)
  AUTHORS   Wang H, Liu Z, Sun Z, Zhou D, Mao H and Deng G.
  TITLE     Ubiquitin specific peptidase 33 promotes cell proliferation and
            reduces apoptosis through regulation of the SP1/PI3K/AKT pathway in
            retinoblastoma
  JOURNAL   Cell Cycle 20 (19), 2066-2076 (2021)
   PUBMED   34470581
  REMARK    GeneRIF: Ubiquitin specific peptidase 33 promotes cell
            proliferation and reduces apoptosis through regulation of the
            SP1/PI3K/AKT pathway in retinoblastoma.
REFERENCE   4  (residues 1 to 851)
  AUTHORS   Culver JA and Mariappan M.
  TITLE     Deubiquitinases USP20/33 promote the biogenesis of tail-anchored
            membrane proteins
  JOURNAL   J Cell Biol 220 (5) (2021)
   PUBMED   33792613
  REMARK    GeneRIF: Deubiquitinases USP20/33 promote the biogenesis of
            tail-anchored membrane proteins.
REFERENCE   5  (residues 1 to 851)
  AUTHORS   Mishra R and Banerjea AC.
  TITLE     SARS-CoV-2 Spike Targets USP33-IRF9 Axis via Exosomal miR-148a to
            Activate Human Microglia
  JOURNAL   Front Immunol 12, 656700 (2021)
   PUBMED   33936086
  REMARK    GeneRIF: SARS-CoV-2 Spike Targets USP33-IRF9 Axis via Exosomal
            miR-148a to Activate Human Microglia.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 851)
  AUTHORS   Thorne C, Eccles RL, Coulson JM, Urbe S and Clague MJ.
  TITLE     Isoform-specific localization of the deubiquitinase USP33 to the
            Golgi apparatus
  JOURNAL   Traffic 12 (11), 1563-1574 (2011)
   PUBMED   21801292
REFERENCE   7  (residues 1 to 851)
  AUTHORS   Curcio-Morelli C, Zavacki AM, Christofollete M, Gereben B, de
            Freitas BC, Harney JW, Li Z, Wu G and Bianco AC.
  TITLE     Deubiquitination of type 2 iodothyronine deiodinase by von
            Hippel-Lindau protein-interacting deubiquitinating enzymes
            regulates thyroid hormone activation
  JOURNAL   J Clin Invest 112 (2), 189-196 (2003)
   PUBMED   12865408
  REMARK    GeneRIF: VDU1 has a role in amplifying the increase in type 2
            iodothyronine deiodinase activity that results from
            catecholamine-stimulated de novo synthesis
REFERENCE   8  (residues 1 to 851)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
REFERENCE   9  (residues 1 to 851)
  AUTHORS   Li Z, Wang D, Na X, Schoen SR, Messing EM and Wu G.
  TITLE     Identification of a deubiquitinating enzyme subfamily as substrates
            of the von Hippel-Lindau tumor suppressor
  JOURNAL   Biochem Biophys Res Commun 294 (3), 700-709 (2002)
   PUBMED   12056827
REFERENCE   10 (residues 1 to 851)
  AUTHORS   Li Z, Na X, Wang D, Schoen SR, Messing EM and Wu G.
  TITLE     Ubiquitination of a novel deubiquitinating enzyme requires direct
            binding to von Hippel-Lindau tumor suppressor protein
  JOURNAL   J Biol Chem 277 (7), 4656-4662 (2002)
   PUBMED   11739384
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC114487.2.
            On Jan 10, 2020 this sequence version replaced XP_005270706.1.
            
            Summary: This gene encodes a deubiquinating enzyme important in a
            variety of processes, including Slit-dependent cell migration and
            beta-2 adrenergic receptor signaling. The protein is negatively
            regulated through ubiquitination by von Hippel-Lindau tumor protein
            (VHL). Alternative splicing results in multiple transcript variants
            and protein isoforms. [provided by RefSeq, Jun 2012].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.3794349.1,
                                           SRR18074967.890535.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..851
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     Protein         1..851
                     /product="ubiquitin carboxyl-terminal hydrolase 33 isoform
                     6"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin carboxyl-terminal hydrolase 33;
                     pVHL-interacting deubiquitinating enzyme 1; ubiquitin
                     thioesterase 33; deubiquitinating enzyme 33;
                     VHL-interacting deubiquitinating enzyme 1;
                     ubiquitin-specific-processing protease 33; ubiquitin
                     thiolesterase 33"
                     /calculated_mol_wt=96408
     Region          <39..>285
                     /region_name="UBP14"
                     /note="Uncharacterized Zn-finger protein, UBP-type
                     [General function prediction only]; COG5207"
                     /db_xref="CDD:227532"
     Region          185..712
                     /region_name="UCH"
                     /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443"
                     /db_xref="CDD:425685"
     Region          294..357
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEY7.2)"
     Site            377
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8TEY7.2)"
     Region          419..469
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEY7.2)"
     Site            439
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8TEY7.2)"
     Region          734..803
                     /region_name="DUSP"
                     /note="DUSP domain; cl12116"
                     /db_xref="CDD:416436"
     CDS             1..851
                     /gene="USP33"
                     /gene_synonym="VDU1"
                     /coded_by="NM_001377432.1:348..2903"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="GeneID:23032"
                     /db_xref="HGNC:HGNC:20059"
                     /db_xref="MIM:615146"
ORIGIN      
        1 mtgsnshiti ltlkvlphfe slgkqekipn kmsafrnhcp hldsvgeitk edliqkslgt
       61 cqdckvqgpn lwaclenrcs yvgcgesqvd hstihsqetk hyltvnlttl rvwcyacske
      121 vfldrklgtq pslphvrqph qiqensvqdf kipsnttlkt plvavfddld ieadeedelr
      181 argltglkni gntcymnaal qalsncpplt qffldcggla rtdkkpaick sylklmtelw
      241 hksrpgsvvp ttlfqgiktv nptfrgysqq daqeflrclm dllheelkeq vmeveedpqt
      301 itteetmeed ksqsdvdfqs cescsnsdra enengsrcfs ednnettmli qddennsems
      361 kdwqkekmcn kinkvnsege fdkdrdsise tvdlnnqetv kvqihsrase yitdvhsndl
      421 stpqilpsne gvnprlsasp pksgnlwpgl apphkkaqsa spkrkkqhkk yrsvisdifd
      481 gtiissvqcl tcdrvsvtle tfqdlslpip gkedlaklhs sshptsivka gscgeayapq
      541 gwiaffmeyv krfvvscvps wfwgpvvtlq dclaaffard elkgdnmysc ekckklrngv
      601 kfckvqnfpe ilcihlkrfr helmfstkis thvsfplegl dlqpflakds paqivtydll
      661 svichhgtas sghyiaycrn nlnnlwyefd dqsvtevses tvqnaeayvl fyrksseeaq
      721 kerrrisnll nimepsllqf yisrqwlnkf ktfaepgpis nndflcihgg vpprkagyie
      781 dlvlmlpqni wdnlysrygg gpavnhlyic htcqieaeki ekrrktelei firilqvllt
      841 ilrlqslnvv m
//
LOCUS       NP_689798                496 aa            linear   PRI 18-MAR-2023
DEFINITION  RNA-binding motif protein, Y chromosome, family 1 member F/J
            isoform 1 [Homo sapiens].
ACCESSION   NP_689798
VERSION     NP_689798.1
DBSOURCE    REFSEQ: accession NM_152585.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 496)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 496)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 496)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam
            S, MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 496)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (residues 1 to 496)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   6  (residues 1 to 496)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   7  (residues 1 to 496)
  AUTHORS   Venables JP, Elliott DJ, Makarova OV, Makarov EM, Cooke HJ and
            Eperon IC.
  TITLE     RBMY, a probable human spermatogenesis factor, and other hnRNP G
            proteins interact with Tra2beta and affect splicing
  JOURNAL   Hum Mol Genet 9 (5), 685-694 (2000)
   PUBMED   10749975
REFERENCE   8  (residues 1 to 496)
  AUTHORS   Chai NN, Zhou H, Hernandez J, Najmabadi H, Bhasin S and Yen PH.
  TITLE     Structure and organization of the RBMY genes on the human Y
            chromosome: transposition and amplification of an ancestral
            autosomal hnRNPG gene
  JOURNAL   Genomics 49 (2), 283-289 (1998)
   PUBMED   9598316
REFERENCE   9  (residues 1 to 496)
  AUTHORS   Prosser J, Inglis JD, Condie A, Ma K, Kerr S, Thakrar R, Taylor K,
            Cameron JM and Cooke HJ.
  TITLE     Degeneracy in human multicopy RBM (YRRM), a candidate
            spermatogenesis gene
  JOURNAL   Mamm Genome 7 (11), 835-842 (1996)
   PUBMED   8875892
REFERENCE   10 (residues 1 to 496)
  AUTHORS   Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed
            RM, Thomson EJ, Jobling M, Taylor K et al.
  TITLE     A Y chromosome gene family with RNA-binding protein homology:
            candidates for the azoospermia factor AZF controlling human
            spermatogenesis
  JOURNAL   Cell 75 (7), 1287-1295 (1993)
   PUBMED   8269511
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC023342.3.
            
            Summary: This gene encodes a protein containing an RNA-binding
            motif in the N-terminus and four SRGY (serine, arginine, glycine,
            tyrosine) boxes in the C-terminus. Multiple copies of this gene are
            found in the AZFb azoospermia factor region of chromosome Y and the
            encoded protein is thought to be involved in spermatogenesis. Most
            copies of this locus are pseudogenes, although six highly similar
            copies have full-length ORFs and are considered functional. Four
            functional copies of this gene are found within inverted repeat
            IR2; two functional copies of this gene are found in palindrome P3,
            along with two copies of PTPN13-like, Y-linked. [provided by
            RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC030018.2, SRR5189667.347794.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303766.12/ ENSP00000307155.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.223"
     Protein         1..496
                     /product="RNA-binding motif protein, Y chromosome, family
                     1 member F/J isoform 1"
                     /note="RNA-binding motif protein, Y chromosome, family 1
                     member F/J; y chromosome RNA recognition motif 2"
                     /calculated_mol_wt=55597
     Region          <1..189
                     /region_name="RRM"
                     /note="RNA recognition motif (RRM) domain [Translation,
                     ribosomal structure and biogenesis]; COG0724"
                     /db_xref="CDD:223796"
     Region          7..85
                     /region_name="RRM_RBMX_like"
                     /note="RNA recognition motif (RRM) found in heterogeneous
                     nuclear ribonucleoprotein G (hnRNP G), Y chromosome RNA
                     recognition motif 1 (hRBMY), testis-specific heterogeneous
                     nuclear ribonucleoprotein G-T (hnRNP G-T) and similar
                     proteins; cd12382"
                     /db_xref="CDD:409816"
     Site            order(9,11,13..17,38,40..43,44..50,52,77,79,81..85)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:409816"
     Region          81..345
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15415.2)"
     Region          158..>316
                     /region_name="dnaA"
                     /note="chromosomal replication initiator protein DnaA;
                     cl42516"
                     /db_xref="CDD:455861"
     Region          174..218
                     /region_name="RBM1CTR"
                     /note="RBM1CTR (NUC064) family; pfam08081"
                     /db_xref="CDD:400429"
     Region          452..496
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15415.2)"
     CDS             1..496
                     /gene="RBMY1F"
                     /gene_synonym="YRRM2"
                     /coded_by="NM_152585.3:94..1584"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS35483.1"
                     /db_xref="GeneID:159163"
                     /db_xref="HGNC:HGNC:23974"
ORIGIN      
        1 mveadhpgkl figglnretn ekmlkavfgk hgpisevlli kdrtsksrgf afitfenpad
       61 aknaakdmng tslhgkaikv eqakkpsfqs ggrrrppass rnrspsgslr sargssggtr
      121 gwlpsheghl ddggytpdlk msysrglipv krgpssrsgg pppkksapsa varsnswmgs
      181 qgpmsqrren ygvpprrati sswrndrmst rhdgyatndg nhpscqetrd yappsrgyay
      241 rdnghsnrde hssrgyrnhr ssretrdyap psrghayrdy ghsrrdesys rgyrnhrssr
      301 etreyappsr ghgyrdyghs rrhesysrgy rnhpssretr dyapphrdya yrdyghsswd
      361 ehssrgysyh dgygealgrd hsehlsgssy rdalqrygts hgappargpr msyggstcha
      421 ysntrdrygr swesysscgd fhycdrehvc rkdqrnppsl grvlpdprea ygsssyvasi
      481 vdggesrsek gdssry
//
LOCUS       NP_001364158            1524 aa            linear   PRI 18-MAR-2023
DEFINITION  protein dispatched homolog 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001364158
VERSION     NP_001364158.1
DBSOURCE    REFSEQ: accession NM_001377229.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1524)
  AUTHORS   Ehring K, Manikowski D, Goretzko J, Froese J, Gude F, Jakobs P,
            Rescher U, Kirchhefer U and Grobe K.
  TITLE     Conserved cholesterol-related activities of Dispatched 1 drive
            Sonic hedgehog shedding from the cell membrane
  JOURNAL   J Cell Sci 135 (5) (2022)
   PUBMED   34308968
  REMARK    GeneRIF: Conserved cholesterol-related activities of Dispatched 1
            drive Sonic hedgehog shedding from the cell membrane.
REFERENCE   2  (residues 1 to 1524)
  AUTHORS   Li W, Wang L, Wierbowski BM, Lu M, Dong F, Liu W, Li S, Wang P,
            Salic A and Gong X.
  TITLE     Structural insights into proteolytic activation of the human
            Dispatched1 transporter for Hedgehog morphogen release
  JOURNAL   Nat Commun 12 (1), 6966 (2021)
   PUBMED   34845226
  REMARK    GeneRIF: Structural insights into proteolytic activation of the
            human Dispatched1 transporter for Hedgehog morphogen release.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1524)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 1524)
  AUTHORS   Chen H, Liu Y and Li X.
  TITLE     Structure of human Dispatched-1 provides insights into Hedgehog
            ligand biogenesis
  JOURNAL   Life Sci Alliance 3 (8), e202000776 (2020)
   PUBMED   32646883
  REMARK    GeneRIF: Structure of human Dispatched-1 provides insights into
            Hedgehog ligand biogenesis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1524)
  AUTHORS   Lisoway AJ, Zai G, Tiwari AK, Zai CC, Wigg K, Goncalves V, Zhang D,
            Freeman N, Muller DJ, Kennedy JL and Richter MA.
  TITLE     Pharmacogenetic evaluation of a DISP1 gene variant in
            antidepressant treatment of obsessive-compulsive disorder
  JOURNAL   Hum Psychopharmacol 33 (4), e2659 (2018)
   PUBMED   29953682
  REMARK    GeneRIF: Genome-wide association study does not support the role of
            DISP1 in predicting serotonin reuptake inhibitor response in
            obsessive-compulsive disorder.
REFERENCE   6  (residues 1 to 1524)
  AUTHORS   Roessler E, Ma Y, Ouspenskaia MV, Lacbawan F, Bendavid C, Dubourg
            C, Beachy PA and Muenke M.
  TITLE     Truncating loss-of-function mutations of DISP1 contribute to
            holoprosencephaly-like microform features in humans
  JOURNAL   Hum Genet 125 (4), 393-400 (2009)
   PUBMED   19184110
  REMARK    GeneRIF: describe two independent families with truncating
            mutations in DISP1 that resemble the cardinal craniofacial and
            neuro-developmental features of a recently described microdeletion
            syndrome that includes this gene
REFERENCE   7  (residues 1 to 1524)
  AUTHORS   Katoh Y and Katoh M.
  TITLE     Hedgehog signaling pathway and gastric cancer
  JOURNAL   Cancer Biol Ther 4 (10), 1050-1054 (2005)
   PUBMED   16258256
  REMARK    Review article
REFERENCE   8  (residues 1 to 1524)
  AUTHORS   Ma Y, Erkner A, Gong R, Yao S, Taipale J, Basler K and Beachy PA.
  TITLE     Hedgehog-mediated patterning of the mammalian embryo requires
            transporter-like function of dispatched
  JOURNAL   Cell 111 (1), 63-75 (2002)
   PUBMED   12372301
REFERENCE   9  (residues 1 to 1524)
  AUTHORS   Burke R, Nellen D, Bellotto M, Hafen E, Senti KA, Dickson BJ and
            Basler K.
  TITLE     Dispatched, a novel sterol-sensing domain protein dedicated to the
            release of cholesterol-modified hedgehog from signaling cells
  JOURNAL   Cell 99 (7), 803-815 (1999)
   PUBMED   10619433
REFERENCE   10 (residues 1 to 1524)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301702
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL392172.9 and AC093152.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The pattern of cellular proliferation and differentiation
            that leads to normal development of embryonic structures often
            depends upon the localized production of secreted protein signals.
            Cells surrounding the source of a particular signal respond in a
            graded manner according to the effective concentration of the
            signal, and this response produces the pattern of cell types
            constituting the mature structure. A novel segment-polarity gene
            known as dispatched has been identified in Drosophila and its
            protein product is required for normal Hedgehog (Hh) signaling.
            This gene is one of two human homologs of Drosophila dispatched
            and, based on sequence identity to its mouse counterpart, the
            encoded protein may play an essential role in Hh patterning
            activities in the early embryo. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.271518.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000675850.1/ ENSP00000502357.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1524
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q41"
     Protein         1..1524
                     /product="protein dispatched homolog 1 isoform 1"
                     /note="protein dispatched homolog 1; dispatched A"
                     /calculated_mol_wt=170804
     Site            59
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96F81.3)"
     Site            190..210
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F81.3)"
     Region          435..1131
                     /region_name="Patched"
                     /note="Patched family; pfam02460"
                     /db_xref="CDD:308203"
     Site            500..520
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F81.3)"
     Site            525..545
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F81.3)"
     Site            549..569
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F81.3)"
     Site            582
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96F81.3)"
     Site            604..624
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F81.3)"
     Site            638..658
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F81.3)"
     Site            719..739
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F81.3)"
     Site            988..1008
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F81.3)"
     Site            1010..1030
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F81.3)"
     Site            1040..1060
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F81.3)"
     Site            1079..1099
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F81.3)"
     Site            1107..1127
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96F81.3)"
     CDS             1..1524
                     /gene="DISP1"
                     /gene_synonym="DISPA"
                     /coded_by="NM_001377229.1:199..4773"
                     /note="isoform 1 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS1536.1"
                     /db_xref="GeneID:84976"
                     /db_xref="HGNC:HGNC:19711"
                     /db_xref="MIM:607502"
ORIGIN      
        1 mamsngnndf vvlsnssiat saanpspltp cdgdhaaqql tpkeatrtkv spngclqlng
       61 tvkssflpld nqrmpqmlpq cchpcpyhhp ltshsshqec hpeagpaaps alasccmqph
      121 seysaslcpn hspvyqttcc lqpspsfclh hpwpdhfqhq pvqqhianir psrpfklpks
      181 yaaliadwpv vvlgmctmfi vvcalvgvlv pelpdfsdpl lgfeprgtai gqrlvtwnnm
      241 vkntgykatl anypfkyade qakshrddrw sddhyerekr evdwnfhkds ffcdvpsdry
      301 srvvftssgg etlwnlpaik smcnvdnsri rshpqfgdlc qrttaasccp swtlgnyiai
      361 lnnrsscqki verdvshtlk llrtcakhyq ngtlgpdcwd maarrkdqlk ctnvprkctk
      421 ynavyqilhy lvdkdfmtpk tadyatpalk ysmlfsptek gesmmniyld nfenwnssdg
      481 vttitgiefg ikhslfqdyl lmdtvypaia ivivllvmcv ytksmfitlm tmfaiissli
      541 vsyflyrvvf hfeffpfmnl taliilvgig addafvlcdv wnytkfdkph aetsetvsit
      601 lqhaalsmfv tsfttaaafy anyvsnitai rcfgvyagta ilvnyvlmvt wlpavvvlhe
      661 ryllniftcf kkpqqqiydn kscwtvacqk chkvlfaise asriffekvl pcivikfryl
      721 wlfwflaltv ggayivcinp kmklpslels efqvfrsshp ferydaeykk lfmfervhhg
      781 eelhmpitvi wgvspedngn plnpkskgkl tldssfnias pasqawilhf cqklrnqtff
      841 yqtdeqdfts cfietfkqwm enqdcdepal ypccshwsfp ykqeifelci kraimelers
      901 tgyhldsktp gprfdindti ravvlefqst ylftlayekm hqfykevdsw isselssape
      961 glsngwfvsn lefydlqdsl sdgtliamgl svavafsvml lttwniiisl yaiisiagti
     1021 fvtvgslvll gwelnvlesv tisvavglsv dfavhygvay rlapdpdreg kvifslsrvg
     1081 samamaaltt fvagammmps tvlaytqlgt fmmlimcisw afatfffqcm crclgpqgtc
     1141 gqiplpkklq csafshalst spsdkgqskt htinayhldp rgpkselehe fyeleplash
     1201 sctapektty eethicseff nsqaknlgmp vhaaynsels kstesdagsa llqppleqht
     1261 vchffslnqr cscpdaykhl nygphscqqm gdclchqcsp ttssfvqiqn gvaplkathq
     1321 avegfvhpit hihhcpclqg rvkpagmqns lprnfflhpv qhiqaqekig ktnvhslqrs
     1381 ieehlpkmae pssfvcrstg sllktccdpe nkqrelcknr dvsnlessgg tenkaggkve
     1441 lslsqtdasv nsehfnqnep kvlfnhlmge agcrscpnns qscgrivrvk cnsvdcqmpn
     1501 meanvpavlt hselsgesll iktl
//
LOCUS       NP_001372449             880 aa            linear   PRI 18-MAR-2023
DEFINITION  caprin-2 isoform 19 [Homo sapiens].
ACCESSION   NP_001372449 XP_016875355
VERSION     NP_001372449.1
DBSOURCE    REFSEQ: accession NM_001385520.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 880)
  AUTHORS   Ma B, Zhang W, Wang X, Jiang H, Tang L, Yang W, Kang Q and Cao J.
  TITLE     Polymorphisms in TRIB2 and CAPRIN2 Genes Contribute to the
            Susceptibility to High Myopia-Induced Cataract in Han Chinese
            Population
  JOURNAL   Med Sci Monit 29, e937702 (2023)
   PUBMED   36710479
  REMARK    GeneRIF: Polymorphisms in TRIB2 and CAPRIN2 Genes Contribute to the
            Susceptibility to High Myopia-Induced Cataract in Han Chinese
            Population.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 880)
  AUTHORS   Zheng Y, Zeng J, Xia H, Wang X, Chen H, Huang L and Zeng C.
  TITLE     Upregulated lncRNA Cyclin-dependent kinase inhibitor 2B antisense
            RNA 1 induces the proliferation and migration of colorectal cancer
            by miR-378b/CAPRIN2 axis
  JOURNAL   Bioengineered 12 (1), 5476-5490 (2021)
   PUBMED   34511033
  REMARK    GeneRIF: Upregulated lncRNA Cyclin-dependent kinase inhibitor 2B
            antisense RNA 1 induces the proliferation and migration of
            colorectal cancer by miR-378b/CAPRIN2 axis.
REFERENCE   3  (residues 1 to 880)
  AUTHORS   Ai Y, Wu S, Zou C and Wei H.
  TITLE     LINC00941 promotes oral squamous cell carcinoma progression via
            activating CAPRIN2 and canonical WNT/beta-catenin signaling pathway
  JOURNAL   J Cell Mol Med 24 (18), 10512-10524 (2020)
   PUBMED   32691935
  REMARK    GeneRIF: LINC00941 promotes oral squamous cell carcinoma
            progression via activating CAPRIN2 and canonical WNT/beta-catenin
            signaling pathway.
REFERENCE   4  (residues 1 to 880)
  AUTHORS   Wang X, Jia Y, Fei C, Song X and Li L.
  TITLE     Activation/Proliferation-associated Protein 2 (Caprin-2) Positively
            Regulates CDK14/Cyclin Y-mediated Lipoprotein Receptor-related
            Protein 5 and 6 (LRP5/6) Constitutive Phosphorylation
  JOURNAL   J Biol Chem 291 (51), 26427-26434 (2016)
   PUBMED   27821587
  REMARK    GeneRIF: findings revealed an unrecognized role of Caprin-2 in
            facilitating LRP5/6 constitutive phosphorylation at G2/M through
            forming a quaternary complex with CDK14, Cyclin Y, and LRP5/6.
REFERENCE   5  (residues 1 to 880)
  AUTHORS   Miao H, Jia Y, Xie S, Wang X, Zhao J, Chu Y, Zhou Z, Shi Z, Song X
            and Li L.
  TITLE     Structural insights into the C1q domain of Caprin-2 in canonical
            Wnt signaling
  JOURNAL   J Biol Chem 289 (49), 34104-34113 (2014)
   PUBMED   25331957
  REMARK    GeneRIF: Caprin-2 C1q-related domain forms a flexible homotrimer
            mediated by calcium, and this trimeric assembly is required for the
            functioning of caprin-2.
REFERENCE   6  (residues 1 to 880)
  AUTHORS   Shiina N and Tokunaga M.
  TITLE     RNA granule protein 140 (RNG140), a paralog of RNG105 localized to
            distinct RNA granules in neuronal dendrites in the adult vertebrate
            brain
  JOURNAL   J Biol Chem 285 (31), 24260-24269 (2010)
   PUBMED   20516077
REFERENCE   7  (residues 1 to 880)
  AUTHORS   Ding Y, Xi Y, Chen T, Wang JY, Tao DL, Wu ZL, Li YP, Li C, Zeng R
            and Li L.
  TITLE     Caprin-2 enhances canonical Wnt signaling through regulating LRP5/6
            phosphorylation
  JOURNAL   J Cell Biol 182 (5), 865-872 (2008)
   PUBMED   18762581
  REMARK    GeneRIF: Caprin-2 promotes activation of the canonical Wnt
            signaling pathway by regulating LRP5/6 phosphorylation.
REFERENCE   8  (residues 1 to 880)
  AUTHORS   Tao WA, Wollscheid B, O'Brien R, Eng JK, Li XJ, Bodenmiller B,
            Watts JD, Hood L and Aebersold R.
  TITLE     Quantitative phosphoproteome analysis using a dendrimer conjugation
            chemistry and tandem mass spectrometry
  JOURNAL   Nat Methods 2 (8), 591-598 (2005)
   PUBMED   16094384
REFERENCE   9  (residues 1 to 880)
  AUTHORS   Grill B, Wilson GM, Zhang KX, Wang B, Doyonnas R, Quadroni M and
            Schrader JW.
  TITLE     Activation/division of lymphocytes results in increased levels of
            cytoplasmic activation/proliferation-associated protein-1:
            prototype of a new family of proteins
  JOURNAL   J Immunol 172 (4), 2389-2400 (2004)
   PUBMED   14764709
REFERENCE   10 (residues 1 to 880)
  AUTHORS   Aerbajinai W, Lee YT, Wojda U, Barr VA and Miller JL.
  TITLE     Cloning and characterization of a gene expressed during terminal
            differentiation that encodes a novel inhibitor of growth
  JOURNAL   J Biol Chem 279 (3), 1916-1921 (2004)
   PUBMED   14593112
  REMARK    GeneRIF: regulated expression of EEG-1 is involved in the
            orchestrated regulation of growth that occurs as erythroblasts
            shift from a highly proliferative state toward their terminal phase
            of differentiation.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010198.8.
            On Jul 20, 2020 this sequence version replaced XP_016875355.1.
            
            Summary: The protein encoded by this gene may regulate the
            transport of mRNA. It may play a role in the differentiation of
            erythroblasts. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Feb
            2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.1069386.1,
                                           SRR1803615.44520.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..880
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     Protein         1..880
                     /product="caprin-2 isoform 19"
                     /note="RNA granule protein 140; C1q domain-containing
                     protein 1; gastric cancer multidrug resistance-associated
                     protein; cytoplasmic activation/proliferation-associated
                     protein 2"
                     /calculated_mol_wt=98584
     Region          <7..429
                     /region_name="SCP-1"
                     /note="Synaptonemal complex protein 1 (SCP-1); pfam05483"
                     /db_xref="CDD:114219"
     Region          119..234
                     /region_name="Caprin-1_dimer"
                     /note="Caprin-1 dimerization domain; pfam18293"
                     /db_xref="CDD:436391"
     Region          539..854
                     /region_name="Caprin-1_C"
                     /note="Cytoplasmic activation/proliferation-associated
                     protein-1 C term; pfam12287"
                     /db_xref="CDD:432456"
     CDS             1..880
                     /gene="CAPRIN2"
                     /gene_synonym="C1QDC1; EEG-1; EEG1; RNG140"
                     /coded_by="NM_001385520.1:311..2953"
                     /note="isoform 19 is encoded by transcript variant 31"
                     /db_xref="GeneID:65981"
                     /db_xref="HGNC:HGNC:21259"
                     /db_xref="MIM:610375"
ORIGIN      
        1 mksakpqvnh sqhgesqral splqstlssa aspsqayety iengliclkh kirniekkkl
       61 kledykdrlk sgehlnpdql eavekyeevl hnlefakelq ktfsglsldl lkaqkkaqrr
      121 ehmlkleaek kklrtilqvq yvlqnltqeh vqkdfkggln gavylpskel dylikfsklt
      181 cperneslsv edqmeqssly fwdllegsek avvgttykhl kdllskllns gyfesipvpk
      241 nakekevple eemliqsekk tqlsktesvk eseslmefaq peiqpqefln rrymtevdys
      301 nkqgeeqpwe adyarkpnlp krwdmltepd gqekkqesfk sweasgkhqe vskpavsleq
      361 rkqdtsklrs tlpeeqkkqe iskskpspsq wkqdtpkska gyvqeeqkkq etpklwpvql
      421 qkeqdpkkqt pkswtpsmqs eqnttkswtt pmceeqdskq petpkswenn vesqkhslts
      481 qsqispkswg vataslipnd qllprklnte pkdvpkpvhq pvgssstlpk dpvlrkeklq
      541 dlmtqiqgtc nfmqesvldf dkpssaipts qppsatpgsp vaskeqnlss qsdflqeplq
      601 atsspvtcss naclvttdqa ssgsetefmt setpeaaipp gkqpsslasp nppmakgseq
      661 gfqsppasss svtintapfq amqtvfnvna plpprkeqei kespyspgyn qsfttastqt
      721 ppqcqlpsih veqtvhsqet aanyhpdgti qvsngslafy paqtnvfprp tqpfvnsrgs
      781 vrgctrggrl itnsyrspgg ykgfdtyrgl psisngnysq lqfqareysg apysqrdnfq
      841 qcykrggtsg gpransranc fimrnsllli kqqggvillr
//
LOCUS       NP_001371419            1189 aa            linear   PRI 18-MAR-2023
DEFINITION  mitogen-activated protein kinase kinase kinase kinase 4 isoform 18
            [Homo sapiens].
ACCESSION   NP_001371419 XP_006712932
VERSION     NP_001371419.1
DBSOURCE    REFSEQ: accession NM_001384490.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1189)
  AUTHORS   Cesana M, Vaccaro L, Larsen MJ, Kibaek M, Micale L, Riccardo S,
            Annunziata P, Colantuono C, Di Filippo L, De Brasi D, Castori M,
            Fagerberg C, Acquaviva F and Cacchiarelli D.
  TITLE     Integrated exome and transcriptome analysis prioritizes MAP4K4 de
            novo frameshift variants in autism spectrum disorder as a novel
            disease-gene association
  JOURNAL   Hum Genet 142 (3), 343-350 (2023)
   PUBMED   36469137
  REMARK    GeneRIF: Integrated exome and transcriptome analysis prioritizes
            MAP4K4 de novo frameshift variants in autism spectrum disorder as a
            novel disease-gene association.
REFERENCE   2  (residues 1 to 1189)
  AUTHORS   Wan C, Chen W, Cui Y and He Z.
  TITLE     MAP4K4/JNK Signaling Pathway Stimulates Proliferation and
            Suppresses Apoptosis of Human Spermatogonial Stem Cells and Lower
            Level of MAP4K4 Is Associated with Male Infertility
  JOURNAL   Cells 11 (23), 3807 (2022)
   PUBMED   36497065
  REMARK    GeneRIF: MAP4K4/JNK Signaling Pathway Stimulates Proliferation and
            Suppresses Apoptosis of Human Spermatogonial Stem Cells and Lower
            Level of MAP4K4 Is Associated with Male Infertility.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1189)
  AUTHORS   LeClaire LL, Rana M, Baumgartner M and Barber DL.
  TITLE     The Nck-interacting kinase NIK increases Arp2/3 complex activity by
            phosphorylating the Arp2 subunit
  JOURNAL   J Cell Biol 208 (2), 161-170 (2015)
   PUBMED   25601402
REFERENCE   4  (residues 1 to 1189)
  AUTHORS   Santhana Kumar K, Tripolitsioti D, Ma M, Grahlert J, Egli KB,
            Fiaschetti G, Shalaby T, Grotzer MA and Baumgartner M.
  TITLE     The Ser/Thr kinase MAP4K4 drives c-Met-induced motility and
            invasiveness in a cell-based model of SHH medulloblastoma
  JOURNAL   Springerplus 4, 19 (2015)
   PUBMED   25625039
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1189)
  AUTHORS   Ma M and Baumgartner M.
  TITLE     Intracellular Theileria annulata promote invasive cell motility
            through kinase regulation of the host actin cytoskeleton
  JOURNAL   PLoS Pathog 10 (3), e1004003 (2014)
   PUBMED   24626571
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1189)
  AUTHORS   Machida N, Umikawa M, Takei K, Sakima N, Myagmar BE, Taira K,
            Uezato H, Ogawa Y and Kariya K.
  TITLE     Mitogen-activated protein kinase kinase kinase kinase 4 as a
            putative effector of Rap2 to activate the c-Jun N-terminal kinase
  JOURNAL   J Biol Chem 279 (16), 15711-15714 (2004)
   PUBMED   14966141
  REMARK    GeneRIF: MAP4K4 is a putative effector of Rap2, a Ras family small
            GTP-binding protein, mediating the activation of JNK by Rap2
REFERENCE   7  (residues 1 to 1189)
  AUTHORS   Wright JH, Wang X, Manning G, LaMere BJ, Le P, Zhu S, Khatry D,
            Flanagan PM, Buckley SD, Whyte DB, Howlett AR, Bischoff JR, Lipson
            KE and Jallal B.
  TITLE     The STE20 kinase HGK is broadly expressed in human tumor cells and
            can modulate cellular transformation, invasion, and adhesion
  JOURNAL   Mol Cell Biol 23 (6), 2068-2082 (2003)
   PUBMED   12612079
  REMARK    GeneRIF: The STE20 kinase HGK is broadly expressed in human tumor
            cells and can modulate cellular transformation, invasion, and
            adhesion.
REFERENCE   8  (residues 1 to 1189)
  AUTHORS   Becker E, Huynh-Do U, Holland S, Pawson T, Daniel TO and Skolnik
            EY.
  TITLE     Nck-interacting Ste20 kinase couples Eph receptors to c-Jun
            N-terminal kinase and integrin activation
  JOURNAL   Mol Cell Biol 20 (5), 1537-1545 (2000)
   PUBMED   10669731
REFERENCE   9  (residues 1 to 1189)
  AUTHORS   Yao Z, Zhou G, Wang XS, Brown A, Diener K, Gan H and Tan TH.
  TITLE     A novel human STE20-related protein kinase, HGK, that specifically
            activates the c-Jun N-terminal kinase signaling pathway
  JOURNAL   J Biol Chem 274 (4), 2118-2125 (1999)
   PUBMED   9890973
REFERENCE   10 (residues 1 to 1189)
  AUTHORS   Su YC, Han J, Xu S, Cobb M and Skolnik EY.
  TITLE     NIK is a new Ste20-related kinase that binds NCK and MEKK1 and
            activates the SAPK/JNK cascade via a conserved regulatory domain
  JOURNAL   EMBO J 16 (6), 1279-1290 (1997)
   PUBMED   9135144
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007005.3 and AC005035.2.
            On Jun 18, 2020 this sequence version replaced XP_006712932.1.
            
            Summary: The protein encoded by this gene is a member of the
            serine/threonine protein kinase family. This kinase has been shown
            to specifically activate MAPK8/JNK. The activation of MAPK8 by this
            kinase is found to be inhibited by the dominant-negative mutants of
            MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this
            kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase
            cascade, and mediate the TNF-alpha signaling pathway. Alternatively
            spliced transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1189
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     Protein         1..1189
                     /product="mitogen-activated protein kinase kinase kinase
                     kinase 4 isoform 18"
                     /EC_number="2.7.11.1"
                     /note="hepatocyte progenitor kinase-like/germinal center
                     kinase-like kinase; Ste20 group protein kinase HGK;
                     epididymis secretory protein Li 31; MEK kinase kinase 4;
                     nck-interacting kinase; HPK/GCK-like kinase HGK; MAPK/ERK
                     kinase kinase kinase 4"
                     /calculated_mol_wt=136376
     Region          8..289
                     /region_name="STKc_MAP4K4_6_N"
                     /note="N-terminal Catalytic domain of the Serine/Threonine
                     Kinases, Mitogen-Activated Protein Kinase Kinase Kinase
                     Kinase 4 and 6; cd06636"
                     /db_xref="CDD:270806"
     Site            order(31..35,39,52,54,83,105..108,111..112,115,153,
                     155..158,160,170..171,174,188..191,193,225,234)
                     /site_type="active"
                     /db_xref="CDD:270806"
     Site            order(31..35,39,52,54,83,105..108,111..112,115,157..158,
                     160,171)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270806"
     Site            order(34..35,153,155..157,174,188..191,193,225,234)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270806"
     Site            170..193
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270806"
     Region          871..1169
                     /region_name="CNH"
                     /note="Domain found in NIK1-like kinases, mouse citron and
                     yeast ROM1, ROM2; smart00036"
                     /db_xref="CDD:214481"
     CDS             1..1189
                     /gene="MAP4K4"
                     /gene_synonym="FLH21957; HEL-S-31; HGK; MEKKK4; NIK"
                     /coded_by="NM_001384490.1:375..3944"
                     /note="isoform 18 is encoded by transcript variant 18"
                     /db_xref="GeneID:9448"
                     /db_xref="HGNC:HGNC:6866"
                     /db_xref="MIM:604666"
ORIGIN      
        1 mandspaksl vdidlsslrd pagifelvev vgngtygqvy kgrhvktgql aaikvmdvte
       61 deeeeiklei nmlkkyshhr niatyygafi kksppghddq lwlvmefcga gsitdlvknt
      121 kgntlkedwi ayisreilrg lahlhihhvi hrdikgqnvl ltenaevklv dfgvsaqldr
      181 tvgrrntfig tpywmapevi acdenpdaty dyrsdlwscg itaiemaega pplcdmhpmr
      241 alfliprnpp prlkskkwsk kffsfiegcl vknymqrpst eqllkhpfir dqpnerqvri
      301 qlkdhidrtr kkrgekdete yeysgseeee eevpeqegep ssivnvpges tlrrdflrlq
      361 qenkerseal rrqqllqeqq lreqeeykrq llaerqkrie qqkeqrrrle eqqrrerear
      421 rqqereqrrr eqeekrrlee lerrrkeeee rrraeeekrr vereqeyirr qleeeqrhle
      481 vlqqqllqeq amllecrwre meehrqaerl qrqlqqeqay llslqhdhrr phpqhsqqpp
      541 ppqqerskps fhapepkahy epadrarevp vrttsrspvl srrdsplqgs gqqnsqagqr
      601 nstssieprl lwerveklvp rpgsgsssgs snsgsqpgsh pgsqsgsger frvrssskse
      661 gspsqrlena vkkpedkkev frplkpagev dltalakelr avedvrpphk vtdyssssee
      721 sgttdeeddd veqegadest sgpedtraas slnlsngete svktmivhdd vesepamtps
      781 kegtlivrqt qsasstlqkh kssssftpfi dprllqisps sgttvtsvvg fscdgmrpea
      841 irqdptrkgs vvnvnptntr pqsdtpeirk ykkrfnseil caalwgvnll vgtesglmll
      901 drsgqgkvyp linrrrfqqm dvleglnvlv tisgkkdklr vyylswlrnk ilhndpevek
      961 kqgwttvgdl egcvhykvvk yerikflvia lkssvevyaw apkpyhkfma fksfgelvhk
     1021 pllvdltvee gqrlkviygs cagfhavdvd sgsvydiylp thiqcsikph aiiilpntdg
     1081 mellvcyede gvyvntygri tkdvvlqwge mptsvayirs nqtmgwgeka ieirsvetgh
     1141 ldgvfmhkra qrlkflcern dkvffasvrs ggssqvyfmt lgrtsllsw
//
LOCUS       NP_277035                905 aa            linear   PRI 19-MAR-2023
DEFINITION  hexokinase-1 isoform HKI-td [Homo sapiens].
ACCESSION   NP_277035
VERSION     NP_277035.2
DBSOURCE    REFSEQ: accession NM_033500.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 905)
  AUTHORS   Poole RL, Badonyi M, Cozens A, Foulds N, Marsh JA, Rahman S, Ross
            A, Schooley J, Straub V, Quigley AJ, FitzPatrick D and Lampe A.
  TITLE     Expanding the neurodevelopmental phenotype associated with HK1 de
            novo heterozygous missense variants
  JOURNAL   Eur J Med Genet 66 (3), 104696 (2023)
   PUBMED   36639056
  REMARK    GeneRIF: Expanding the neurodevelopmental phenotype associated with
            HK1 de novo heterozygous missense variants.
REFERENCE   2  (residues 1 to 905)
  AUTHORS   Wakeling MN, Owens NDL, Hopkinson JR, Johnson MB, Houghton JAL,
            Dastamani A, Flaxman CS, Wyatt RC, Hewat TI, Hopkins JJ, Laver TW,
            van Heugten R, Weedon MN, De Franco E, Patel KA, Ellard S, Morgan
            NG, Cheesman E, Banerjee I, Hattersley AT, Dunne MJ, Richardson SJ
            and Flanagan SE.
  CONSRTM   International Congenital Hyperinsulinism Consortium
  TITLE     Non-coding variants disrupting a tissue-specific regulatory element
            in HK1 cause congenital hyperinsulinism
  JOURNAL   Nat Genet 54 (11), 1615-1620 (2022)
   PUBMED   36333503
  REMARK    GeneRIF: Non-coding variants disrupting a tissue-specific
            regulatory element in HK1 cause congenital hyperinsulinism.
REFERENCE   3  (residues 1 to 905)
  AUTHORS   Sundaram SM, Doughty LA and Sereda MW.
  TITLE     Location matters: hexokinase 1 in glucose metabolism and
            inflammation
  JOURNAL   Trends Endocrinol Metab 33 (10), 665-667 (2022)
   PUBMED   35953432
  REMARK    GeneRIF: Location matters: hexokinase 1 in glucose metabolism and
            inflammation.
REFERENCE   4  (residues 1 to 905)
  AUTHORS   Jiao N, Ji WS, Zhang B, Shang YK, Zhang YC, Yu WQ, Jin HL, Li C,
            Zhang CY, Yan C, Yue W and Zhang Q.
  TITLE     Overexpression of Protein Phosphatase 2 Regulatory Subunit B'Alpha
            Promotes Glycolysis by Regulating Hexokinase 1 in Hepatocellular
            Carcinoma
  JOURNAL   Biomed Environ Sci 35 (7), 622-632 (2022)
   PUBMED   35945177
  REMARK    GeneRIF: Overexpression of Protein Phosphatase 2 Regulatory Subunit
            B''Alpha Promotes Glycolysis by Regulating Hexokinase 1 in
            Hepatocellular Carcinoma.
REFERENCE   5  (residues 1 to 905)
  AUTHORS   Andreoni F, Ruzzo A and Magnani M.
  TITLE     Structure of the 5' region of the human hexokinase type I (HKI)
            gene and identification of an additional testis-specific HKI mRNA
  JOURNAL   Biochim Biophys Acta 1493 (1-2), 19-26 (2000)
   PUBMED   10978502
REFERENCE   6  (residues 1 to 905)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 4 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301641
REFERENCE   7  (residues 1 to 905)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   8  (residues 1 to 905)
  AUTHORS   Magnani M, Bianchi M, Casabianca A, Stocchi V, Daniele A, Altruda
            F, Ferrone M and Silengo L.
  TITLE     A recombinant human 'mini'-hexokinase is catalytically active and
            regulated by hexose 6-phosphates
  JOURNAL   Biochem J 285 (Pt 1) (Pt 1), 193-199 (1992)
   PUBMED   1637300
REFERENCE   9  (residues 1 to 905)
  AUTHORS   Daniele A, Altruda F, Ferrone M, Silengo L, Romeo G, Archidiacono N
            and Rocchi M.
  TITLE     Mapping of human hexokinase 1 gene to 10q11----qter
  JOURNAL   Hum Hered 42 (2), 107-110 (1992)
   PUBMED   1572668
REFERENCE   10 (residues 1 to 905)
  AUTHORS   Magnani M, Serafini G, Bianchi M, Casabianca A and Stocchi V.
  TITLE     Human hexokinase type I microheterogeneity is due to different
            amino-terminal sequences
  JOURNAL   J Biol Chem 266 (1), 502-505 (1991)
   PUBMED   1985912
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U38227.1, AF073786.2,
            AK128226.1 and BC008730.2.
            This sequence is a reference standard in the RefSeqGene project.
            On May 16, 2008 this sequence version replaced NP_277035.1.
            
            Summary: Hexokinases phosphorylate glucose to produce
            glucose-6-phosphate, the first step in most glucose metabolism
            pathways. This gene encodes a ubiquitous form of hexokinase which
            localizes to the outer membrane of mitochondria. Mutations in this
            gene have been associated with hemolytic anemia due to hexokinase
            deficiency. Alternative splicing of this gene results in several
            transcript variants which encode different isoforms, some of which
            are tissue-specific. [provided by RefSeq, Apr 2016].
            
            Transcript Variant:  Variant 5 (HKI-td) has five testis-specific
            exons in the 5' end, one of which includes an additional 54 nt
            fragment unique to variants 4 and  5. Isoform HKI-td has a unique
            N-terminus and lacks the porin binding domain (PBD) required for
            association with the mitochondrial membrane.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            inferred exon combination          :: PMID: 10978502
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..905
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     Protein         1..905
                     /product="hexokinase-1 isoform HKI-td"
                     /EC_number="2.7.1.1"
                     /note="brain form hexokinase; glycolytic enzyme;
                     hexokinase type I; hexokinase IR; hexokinase-A;
                     Neuropathy, hereditary motor and sensory, Russe type"
                     /calculated_mol_wt=100955
     Region          10..448
                     /region_name="PLN02914"
                     /note="hexokinase; cl42853"
                     /db_xref="CDD:456198"
     Region          457..655
                     /region_name="Hexokinase_1"
                     /note="pfam00349"
                     /db_xref="CDD:425627"
     Site            order(520..523,525,527,645,665..668)
                     /site_type="other"
                     /note="nucleotide binding site [chemical binding]"
                     /db_xref="CDD:212657"
     Region          661..895
                     /region_name="Hexokinase_2"
                     /note="pfam03727"
                     /db_xref="CDD:427467"
     CDS             1..905
                     /gene="HK1"
                     /gene_synonym="hexokinase; HK; HK1-ta; HK1-tb; HK1-tc;
                     HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /coded_by="NM_033500.2:500..3217"
                     /note="isoform HKI-td is encoded by transcript variant 5"
                     /db_xref="GeneID:3098"
                     /db_xref="HGNC:HGNC:4922"
                     /db_xref="MIM:142600"
ORIGIN      
        1 makralhdfi dkylyamrls detlidimtr frkemkngls rdfnptatvk mlptfvrsip
       61 dgsekgdfia ldlggssfri lrvqvnhekn qnvhmesevy dtpenivhgs gsqlfdhvae
      121 clgdfmekrk ikdkklpvgf tfsfpcqqsk ideailitwt krfkasgveg advvkllnka
      181 ikkrgdydan ivavvndtvg tmmtcgyddq hcevgliigt gtnacymeel rhidlvegde
      241 grmcintewg afgddgsled irtefdreid rgslnpgkql fekmvsgmyl gelvrlilvk
      301 makegllfeg ritpelltrg kfntsdvsai eknkeglhna keiltrlgve psdddcvsvq
      361 hvctivsfrs anlvaatlga ilnrlrdnkg tprlrttvgv dgslykthpq ysrrfhktlr
      421 rlvpdsdvrf llsesgsgkg aamvtavayr laeqhrqiee tlahfhltkd mllevkkrmr
      481 aemelglrkq thnnavvkml psfvrrtpdg tengdflald lggtnfrvll vkirsgkkrt
      541 vemhnkiyai pieimqgtge elfdhivsci sdfldymgik gprmplgftf sfpcqqtsld
      601 agilitwtkg fkatdcvghd vvtllrdaik rreefdldvv avvndtvgtm mtcayeeptc
      661 evglivgtgs nacymeemkn vemvegdqgq mcinmewgaf gdngclddir thydrlvdey
      721 slnagkqrye kmisgmylge ivrnilidft kkgflfrgqi setlktrgif etkflsqies
      781 drlallqvra ilqqlglnst cddsilvktv cgvvsrraaq lcgagmaavv dkirenrgld
      841 rlnvtvgvdg tlyklhphfs rimhqtvkel spkcnvsfll sedgsgkgaa litavgvrlr
      901 teass
//
LOCUS       NP_001291301             125 aa            linear   PRI 19-MAR-2023
DEFINITION  centromere protein M isoform f [Homo sapiens].
ACCESSION   NP_001291301
VERSION     NP_001291301.1
DBSOURCE    REFSEQ: accession NM_001304372.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 125)
  AUTHORS   Zhang ZC, Liu YF, Xi P, Nie YC, Sun T and Gong BB.
  TITLE     Upregulation of CENPM is associated with poor clinical outcome and
            suppression of immune profile in clear cell renal cell carcinoma
  JOURNAL   Hereditas 160 (1), 1 (2023)
   PUBMED   36635779
  REMARK    GeneRIF: Upregulation of CENPM is associated with poor clinical
            outcome and suppression of immune profile in clear cell renal cell
            carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 125)
  AUTHORS   Liu T, Ma L, Song L, Yan B, Zhang S, Wang B, Zuo N, Sun X, Deng Y,
            Ren Q, Li Y, Zhou J, Liu Q and Wei L.
  TITLE     CENPM upregulation by E5 oncoprotein of human papillomavirus
            promotes radiosensitivity in head and neck squamous cell carcinoma
  JOURNAL   Oral Oncol 129, 105858 (2022)
   PUBMED   35462155
  REMARK    GeneRIF: CENPM upregulation by E5 oncoprotein of human
            papillomavirus promotes radiosensitivity in head and neck squamous
            cell carcinoma.
REFERENCE   3  (residues 1 to 125)
  AUTHORS   Liu C, Wang Y, Dao Y, Wang S, Hou F, Yang Z, Liu P, Lv J, Lv L, Li
            G, Zhou Y and Deng Z.
  TITLE     Upregulation of CENPM facilitates lung adenocarcinoma progression
            via PI3K/AKT/mTOR signaling pathway
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 54 (1), 99-112 (2022)
   PUBMED   35130633
  REMARK    GeneRIF: Upregulation of CENPM facilitates lung adenocarcinoma
            progression via PI3K/AKT/mTOR signaling pathway.
REFERENCE   4  (residues 1 to 125)
  AUTHORS   Duan J, Qian Y, Fu X, Chen M, Liu K, Liu H, Yang J, Liu C and Chang
            Y.
  TITLE     TMEM106C contributes to the malignant characteristics and poor
            prognosis of hepatocellular carcinoma
  JOURNAL   Aging (Albany NY) 13 (4), 5585-5606 (2021)
   PUBMED   33591950
  REMARK    GeneRIF: TMEM106C contributes to the malignant characteristics and
            poor prognosis of hepatocellular carcinoma.
REFERENCE   5  (residues 1 to 125)
  AUTHORS   Basilico F, Maffini S, Weir JR, Prumbaum D, Rojas AM, Zimniak T, De
            Antoni A, Jeganathan S, Voss B, van Gerwen S, Krenn V, Massimiliano
            L, Valencia A, Vetter IR, Herzog F, Raunser S, Pasqualato S and
            Musacchio A.
  TITLE     The pseudo GTPase CENP-M drives human kinetochore assembly
  JOURNAL   Elife 3, e02978 (2014)
   PUBMED   25006165
  REMARK    GeneRIF: CENP-M is crucially required for the assembly and
            stability of a tetramer also comprising CENP-I, CENP-H, and CENP-K,
            the HIKM complex, which we extensively characterize through a
            combination of structural, biochemical, and cell biological
            approaches.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 125)
  AUTHORS   Brickner AG, Evans AM, Mito JK, Xuereb SM, Feng X, Nishida T,
            Fairfull L, Ferrell RE, Foon KA, Hunt DF, Shabanowitz J, Engelhard
            VH, Riddell SR and Warren EH.
  TITLE     The PANE1 gene encodes a novel human minor histocompatibility
            antigen that is selectively expressed in B-lymphoid cells and B-CLL
  JOURNAL   Blood 107 (9), 3779-3786 (2006)
   PUBMED   16391015
  REMARK    GeneRIF: an alternative transcript of the proliferation-associated
            nuclear element 1 (PANE1) gene encodes a novel
            (HLA)-A(*)0301-restricted mHAg that is selectively expressed in
            B-lymphoid cells
REFERENCE   7  (residues 1 to 125)
  AUTHORS   Bierie B, Edwin M, Melenhorst JJ and Hennighausen L.
  TITLE     The proliferation associated nuclear element (PANE1) is conserved
            between mammals and fish and preferentially expressed in activated
            lymphoid cells
  JOURNAL   Gene Expr Patterns 4 (4), 389-395 (2004)
   PUBMED   15183305
  REMARK    GeneRIF: Expression of the human PANE1 gene was detected
            preferentially in immune cells
REFERENCE   8  (residues 1 to 125)
  AUTHORS   Obuse C, Yang H, Nozaki N, Goto S, Okazaki T and Yoda K.
  TITLE     Proteomics analysis of the centromere complex from HeLa interphase
            cells: UV-damaged DNA binding protein 1 (DDB-1) is a component of
            the CEN-complex, while BMI-1 is transiently co-localized with the
            centromeric region in interphase
  JOURNAL   Genes Cells 9 (2), 105-120 (2004)
   PUBMED   15009096
REFERENCE   9  (residues 1 to 125)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   10 (residues 1 to 125)
  AUTHORS   Collins JE, Goward ME, Cole CG, Smink LJ, Huckle EJ, Knowles S, Bye
            JM, Beare DM and Dunham I.
  TITLE     Reevaluating human gene annotation: a second-generation analysis of
            chromosome 22
  JOURNAL   Genome Res 13 (1), 27-36 (2003)
   PUBMED   12529303
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY095078.1, BM045658.1 and
            BC000705.2.
            
            Summary: The protein encoded by this gene is an inner protein of
            the kinetochore, the multi-protein complex that binds spindle
            microtubules to regulate chromosome segregation during cell
            division. It belongs to the constitutive centromere-associated
            network protein group, whose members interact with outer
            kinetochore proteins and help to maintain centromere identity at
            each cell division cycle. The protein is structurally related to
            GTPases but cannot bind guanosine triphosphate. A point mutation
            that affects interaction with another constitutive
            centromere-associated network protein, CENP-I, impairs kinetochore
            assembly and chromosome alignment, suggesting that it is required
            for kinetochore formation. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jan 2015].
            
            Transcript Variant: This variant (6) has a distinct 5' UTR, lacks a
            portion of the 5' coding region, and uses an alternate splice
            acceptor site in the coding region compared to variant 1. The
            resulting isoform (f) has a shorter N-terminus and a distinct
            C-terminus compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BM045658.1, ERR4643845.10627.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..125
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     Protein         1..125
                     /product="centromere protein M isoform f"
                     /note="interphase centromere complex protein 39;
                     proliferation-associated nuclear element protein 1"
                     /calculated_mol_wt=13674
     Region          1..>64
                     /region_name="CENP-M"
                     /note="Centromere protein M (CENP-M); pfam11111"
                     /db_xref="CDD:431660"
     CDS             1..125
                     /gene="CENPM"
                     /gene_synonym="C22orf18; CENP-M; PANE1"
                     /coded_by="NM_001304372.2:288..665"
                     /note="isoform f is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS77683.1"
                     /db_xref="GeneID:79019"
                     /db_xref="HGNC:HGNC:18352"
                     /db_xref="MIM:610152"
ORIGIN      
        1 mlkedcasel kvhlakslpl pssvnrprid livfvvnlhs kyrirearts afsvvkfcsl
       61 vcfltlawpp qspehrgvpa pcgcqlllge gvfprhrcwa geplqhspah rgeagphlsk
      121 ppall
//
LOCUS       NP_001180584             187 aa            linear   PRI 20-MAR-2023
DEFINITION  cytochrome b-245 chaperone 1 isoform a [Homo sapiens].
ACCESSION   NP_001180584
VERSION     NP_001180584.1
DBSOURCE    REFSEQ: accession NM_001193655.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 187)
  AUTHORS   Perez-Heras I, Tsilifis C, Slatter MA, Brynjolfsson SF, Haraldsson
            A and Gennery AR.
  TITLE     HSCT in two brothers with CGD arising from mutations in CYBC1
            corrects the defect in neutrophil function
  JOURNAL   Clin Immunol 229, 108799 (2021)
   PUBMED   34280579
  REMARK    GeneRIF: HSCT in two brothers with CGD arising from mutations in
            CYBC1 corrects the defect in neutrophil function.
REFERENCE   2  (residues 1 to 187)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 187)
  AUTHORS   Ryoden Y, Fujii T, Segawa K and Nagata S.
  TITLE     Functional Expression of the P2X7 ATP Receptor Requires Eros
  JOURNAL   J Immunol 204 (3), 559-568 (2020)
   PUBMED   31862710
  REMARK    GeneRIF: these results indicated that Eros acts as a chaperone not
            only for NADPH oxidase, but also for P2X7, and contributes to the
            innate immune reaction
REFERENCE   4  (residues 1 to 187)
  AUTHORS   Thomas DC, Charbonnier LM, Schejtman A, Aldhekri H, Coomber EL,
            Dufficy ER, Beenken AE, Lee JC, Clare S, Speak AO, Thrasher AJ,
            Santilli G, Al-Mousa H, Alkuraya FS, Chatila TA and Smith KGC.
  TITLE     EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic
            granulomatous disease
  JOURNAL   J Allergy Clin Immunol 143 (2), 782-785 (2019)
   PUBMED   30312704
  REMARK    GeneRIF: this study shows that the function of EROS is fully
            conserved between human and mouse, and that homozygous mutations in
            EROS underlie a novel sixth cause of chronic granulomatous disease
REFERENCE   5  (residues 1 to 187)
  AUTHORS   Arnadottir GA, Norddahl GL, Gudmundsdottir S, Agustsdottir AB,
            Sigurdsson S, Jensson BO, Bjarnadottir K, Theodors F, Benonisdottir
            S, Ivarsdottir EV, Oddsson A, Kristjansson RP, Sulem G,
            Alexandersson KF, Juliusdottir T, Gudmundsson KR, Saemundsdottir J,
            Jonasdottir A, Jonasdottir A, Sigurdsson A, Manzanillo P,
            Gudjonsson SA, Thorisson GA, Magnusson OT, Masson G, Orvar KB, Holm
            H, Bjornsson S, Arngrimsson R, Gudbjartsson DF, Thorsteinsdottir U,
            Jonsdottir I, Haraldsson A, Sulem P and Stefansson K.
  TITLE     A homozygous loss-of-function mutation leading to CYBC1 deficiency
            causes chronic granulomatous disease
  JOURNAL   Nat Commun 9 (1), 4447 (2018)
   PUBMED   30361506
  REMARK    GeneRIF: CYBC1 deficiency results in chronic granulomatous disease
            characterized by colitis and a distinct profile of infections
            indicative of macrophage dysfunction.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 187)
  AUTHORS   Skibola CF, Berndt SI, Vijai J, Conde L, Wang Z, Yeager M, de
            Bakker PI, Birmann BM, Vajdic CM, Foo JN, Bracci PM, Vermeulen RC,
            Slager SL, de Sanjose S, Wang SS, Linet MS, Salles G, Lan Q, Severi
            G, Hjalgrim H, Lightfoot T, Melbye M, Gu J, Ghesquieres H, Link BK,
            Morton LM, Holly EA, Smith A, Tinker LF, Teras LR, Kricker A,
            Becker N, Purdue MP, Spinelli JJ, Zhang Y, Giles GG, Vineis P,
            Monnereau A, Bertrand KA, Albanes D, Zeleniuch-Jacquotte A, Gabbas
            A, Chung CC, Burdett L, Hutchinson A, Lawrence C, Montalvan R,
            Liang L, Huang J, Ma B, Liu J, Adami HO, Glimelius B, Ye Y,
            Nowakowski GS, Dogan A, Thompson CA, Habermann TM, Novak AJ, Liebow
            M, Witzig TE, Weiner GJ, Schenk M, Hartge P, De Roos AJ, Cozen W,
            Zhi D, Akers NK, Riby J, Smith MT, Lacher M, Villano DJ, Maria A,
            Roman E, Kane E, Jackson RD, North KE, Diver WR, Turner J,
            Armstrong BK, Benavente Y, Boffetta P, Brennan P, Foretova L,
            Maynadie M, Staines A, McKay J, Brooks-Wilson AR, Zheng T, Holford
            TR, Chamosa S, Kaaks R, Kelly RS, Ohlsson B, Travis RC, Weiderpass
            E, Clavel J, Giovannucci E, Kraft P, Virtamo J, Mazza P, Cocco P,
            Ennas MG, Chiu BC, Fraumeni JF Jr, Nieters A, Offit K, Wu X, Cerhan
            JR, Smedby KE, Chanock SJ and Rothman N.
  TITLE     Genome-wide association study identifies five susceptibility loci
            for follicular lymphoma outside the HLA region
  JOURNAL   Am J Hum Genet 95 (4), 462-471 (2014)
   PUBMED   25279986
REFERENCE   7  (residues 1 to 187)
  AUTHORS   Deng X, Zhao HS, Peng Z, Deng WW, Li N, Guo S and Shi TP.
  TITLE     [Study on the mechanism of C17orf62 induced cell death]
  JOURNAL   Beijing Da Xue Xue Bao Yi Xue Ban 43 (2), 168-172 (2011)
   PUBMED   21503106
REFERENCE   8  (residues 1 to 187)
  AUTHORS   Miyamoto-Sato E, Fujimori S, Ishizaka M, Hirai N, Masuoka K, Saito
            R, Ozawa Y, Hino K, Washio T, Tomita M, Yamashita T, Oshikubo T,
            Akasaka H, Sugiyama J, Matsumoto Y and Yanagawa H.
  TITLE     A comprehensive resource of interacting protein regions for
            refining human transcription factor networks
  JOURNAL   PLoS One 5 (2), e9289 (2010)
   PUBMED   20195357
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 187)
  AUTHORS   Imabayashi H, Mori T, Gojo S, Kiyono T, Sugiyama T, Irie R, Isogai
            T, Hata J, Toyama Y and Umezawa A.
  TITLE     Redifferentiation of dedifferentiated chondrocytes and
            chondrogenesis of human bone marrow stromal cells via chondrosphere
            formation with expression profiling by large-scale cDNA analysis
  JOURNAL   Exp Cell Res 288 (1), 35-50 (2003)
   PUBMED   12878157
REFERENCE   10 (residues 1 to 187)
  AUTHORS   Leiding,J.W. and Holland,S.M.
  TITLE     Chronic Granulomatous Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22876374
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG338078.1, AC132938.9 and BU734211.1.
            
            Transcript Variant: This variant (6) contains a different segment
            for its 5' UTR, compared to variant 1. Variants 1, 4, 5, 6, and 7
            all encode isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.848618.1,
                                           SRR14038195.251707.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..187
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..187
                     /product="cytochrome b-245 chaperone 1 isoform a"
                     /note="uncharacterized protein C17orf62; essential for
                     reactive oxygen species protein"
                     /calculated_mol_wt=20643
     Region          2..183
                     /region_name="DUF4564"
                     /note="Domain of unknown function (DUF4564); pfam15169"
                     /db_xref="CDD:405793"
     Site            20..42
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQA9.1)"
     Site            168
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6AYA6; propagated from
                     UniProtKB/Swiss-Prot (Q9BQA9.1)"
     CDS             1..187
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /coded_by="NM_001193655.2:335..898"
                     /note="isoform a is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS32776.1"
                     /db_xref="GeneID:79415"
                     /db_xref="HGNC:HGNC:28672"
                     /db_xref="MIM:618334"
ORIGIN      
        1 mylqvetrts srlhlkrapg irswsllvgi lsiglaaayy sgdslgwklf yvtgclfvav
       61 qnledweeai fdkstgkvvl ktfslykkll tlfraghdqv vvllhdvrdv sveeekvryf
      121 gkgymvvlrl atgfshpltq savmghrsdv eaiaklitsf lelhclespt elsqssdsea
      181 gdpasqs
//
LOCUS       XP_047298982            3855 aa            linear   PRI 20-MAR-2023
DEFINITION  lysosomal-trafficking regulator isoform X1 [Homo sapiens].
ACCESSION   XP_047298982
VERSION     XP_047298982.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443026.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3855
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..3855
                     /product="lysosomal-trafficking regulator isoform X1"
                     /calculated_mol_wt=434671
     Region          3066..3171
                     /region_name="PH_BEACH"
                     /note="Pleckstrin homology domain in BEACH domain
                     containing proteins; cd01201"
                     /db_xref="CDD:275391"
     Region          3186..3476
                     /region_name="Beach"
                     /note="Beige/BEACH domain; smart01026"
                     /db_xref="CDD:214982"
     Region          3582..3619
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3583..3832
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          3623..3668
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3673..3709
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3716..3749
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3759..3800
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..3855
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /coded_by="XM_047443026.1:7041..18608"
                     /db_xref="GeneID:1130"
                     /db_xref="HGNC:HGNC:1968"
                     /db_xref="MIM:606897"
ORIGIN      
        1 mstdsnslar efltdvnrlc navvqrvear eeeeeethma tlgqylvhgr gfllltklns
       61 iidqaltcre elltlllsll plvwkipvqe ekatdfnlpl sadiiltkek nsssqrstqe
      121 klhlegsals sqvsakvnvf rksrrqrkit hrysvrdark tqlstsdsea nsdekgiamn
      181 khrrphllhh fltsfpkqdh pkakldrlat keqtppdama lensreiipr qgsntdilse
      241 paalsvisnm nnspfdlchv llsllekvck fdvtlnhnsp laasvvptlt eflagfgdcc
      301 slsdnlesrv vsagwteepv aliqrmlfrt vlhllsvdvs taemmpenlr knltellraa
      361 lkiriclekq pdpfaprqkk tlqevqedfv fskyrhrall lpellegvlq ilicclqsaa
      421 snpfyfsqam dlvqefiqhh gfnlfetavl qmewlvlrdg vppeasehlk alinsvmkim
      481 stvkkvkseq lhhsmctrkr hrrceyshfm hhhrdlsgll vsafknqvsk npfeetadgd
      541 vyyperccci avcahqclrl lqqaslsstc vqilsgvhni gicccmdpks viipllhafk
      601 lpalknfqqh ilnilnklil dqlggaeisp kikkaacnic tvdsdqlaql eetlqgnlcd
      661 aelssslssp syrfqgilps sgsedllwkw dalkayqnfv feedrlhsiq ianhicnliq
      721 kgnivvqwkl ynyifnpvlq rgvelahhcq hlsvtsaqsh vcshhnqclp qdvlqiyvkt
      781 lpillksrvi rdlflscngv sqiielncln girshslkaf etliislgeq qkdasvpdid
      841 gidieqkels svhvgtsfhh qqaysdspqs lskfyaglke aypkrrktvn qdvhintinl
      901 flcvaflcvs keaesdresa ndsedtsgyd staseplshm lpcisleslv lpspehmhqa
      961 adiwsmcrwi ymlssvfqkq fyrlggfrvc hklifmiiqk lfrshkeeqg kkegdtsvne
     1021 nqdlnrisqp krtmkedlls laiksdpips elgslkksad slgklelqhi ssinveevsa
     1081 teaapeeakl ftsqesetsl qsirlleall aiclhgarts qqkmelelpn qnlsvesilf
     1141 emrdhlsqsk vietqlakpl fdallrvalg nysadfehnd amtekshqsa eelssqpgdf
     1201 seeaedsqcc sfkllveeeg yeadsesnpe dgetqddgvd lksetegfsa ssspndllen
     1261 ltqgeiiype icmlelnlls askakldvla hvfesflkii rqkeknvfll mqqgtvknll
     1321 ggflsiltqd dsdfqacqrv lvdllvslms srtcseeltl llrifleksp ctkilllgil
     1381 kiiesdttms psqyltfpll hapnlsngvs sqkypgilns kamgllrrar vsrskkeadr
     1441 esfphrllss whiapvhlpl lgqncwphls egfsvslwfn veciheaest tekgkkikkr
     1501 nkslilpdss fdgtesdrpe gaeyinpger lieegcihii slgskalmiq vwadphnatl
     1561 ifrvcmdsnd dmkavllaqv esqeniflps kwqhlvltyl qqpqgkrrih gkisiwvsgq
     1621 rkpdvtldfm lprktslssd snktfcmigh clssqeeflq lagkwdlgnl llfngakvgs
     1681 qeafylyacg pnhtsvmpck ygkpvndysk yinkeilrce qirelfmtkk dvdigllies
     1741 lsvvyttycp aqytiyepvi rlkgqmktql sqrpfsskev qsillephhl knlqpteykt
     1801 iqgilheigg tgifvflfar vvelssceet qalalrvils likynqqrvh elencnglsm
     1861 ihqvlikqkc ivgfyilktl legccgedii ymnengefkl dvdsnaiiqd vklleellld
     1921 wkiwskaeqg vwetllaale vliradhhqq mfnikqllka qvvhhflltc qvlqeykegq
     1981 ltpmprevcr sfvkiiaevl gsppdlellt iifnfllavh pptntyvchn ptnfyfslhi
     2041 dgkifqekvr simylrhsss ggrslmspgf mvispsgfta spyegenssn iipqqmaahm
     2101 lrsrslpafp tsslltqsqk ltgslgcsid rlqniadtyv atqskkqnsl gssdtlkkgk
     2161 edafissces aktvcemeav lsaqvsvsdv pkgvlgfpvv kadhkqlgae prseddspgd
     2221 escprrpdyl kglasfqrsh stiaslglaf psqngsaavg rwpslvdrnt ddwenfaysl
     2281 gyepnynrta sahsvtedcl vpiccglyel lsgvllilpd vlledvmdkl iqadtllvlv
     2341 nhpspaiqqg viklldayfa raskeqkdkf lknrgfslla nqlylhrgtq ellecfiemf
     2401 fgrhigldee fdledvrnmg lfqkwsvipi lglietslyd nillhnalll llqilnscsk
     2461 vadmlldngl lyvlcntvaa lngleknipm seykllacdi qqlfiavtih acsssgsqyf
     2521 rviedlivml gylqnsknkr tqnmavalql rvlqaamefi rttanhdsen ltdslqspsa
     2581 phhavvqkrk siagsipmkg siiphlprhh fgsygqlpmp fsfgplnqds spqfspgctt
     2641 cvvppgagpr kfplaqtesl lmkmrsvand elhvmmqrrm sqenpsqate telaqrlqrl
     2701 tvlavnriiy qefnsdiidi lrtpenvtqs ktsvfqteis eenihheqss vfnpfqkeif
     2761 tylvegfkvs igsskasgsk qqwtkilwsc ketfrmqlgr llvhilspah aaqerkqife
     2821 ivhepnhqei lrdclspslq hgaklvlyls elihnhqgel teeelgtael lmnalklcgh
     2881 kcippsastk adlikmikee qkkyeteegv nkaawqktvn nnqqslfqrl dskskdiski
     2941 aaditqavsl sqgnerkkvi qhirgmykvd lsasrhwqel iqqlthdrav wydpiyypts
     3001 wqldptegpn rerrrlqrcy ltipnkyllr drqksedvvk pplsylfedk thssfsstvk
     3061 dkaasesirv nrrcisvaps retagelllg kcgmyfvedn asdtvesssl qgelepasfs
     3121 wtyeeikevh krwwqlrdna veifltngrt lllafdntkv rddvyhnilt nnlpnlleyg
     3181 nitaltnlwy tgqitnfeyl thlnkhagrs fndlmqypvf pfiladyvse tldlndlliy
     3241 rnlskpiavq ykekedryvd tykyleeeyr kgareddpmp pvqpyhygsh ysnsgtvlhf
     3301 lvrmppftkm flayqdqsfd ipdrtfhstn ttwrlssfes mtdvkelipe ffylpeflvn
     3361 regfdfgvrq ngervnhvnl ppwarndprl filihrqale sdyvsqnicq widlvfgykq
     3421 kgkasvqain vfhpatyfgm dvsavedpvq rraletmikt ygqtprqlfh mahvsrpgak
     3481 lniegelpaa vgllvqfafr etreqvkeit ypsplswikg lkwgeyvgsp sapvpvvcfs
     3541 qphgerfgsl qalptraicg lsrnfcllmt yskeqgvrsm nstdiqwsai lswgyadnil
     3601 rlkskqsepp vnfiqssqqy qvtscawvpd scqlftgskc gvitaytnrf tsstpseiem
     3661 etqihlyght eeitslfvck pysilisvsr dgtciiwdln rlcyvqslag hkspvtavsa
     3721 setsgdiatv cdsagggsdl rlwtvngdlv ghvhcreiic svafsnqpeg vsinviaggl
     3781 engivrlwst wdlkpvreit fpksnkpiis ltfscdghhl ytansdgtvi awcrkdqqrl
     3841 kqpmfysfls syaag
//
LOCUS       XP_011539051             862 aa            linear   PRI 20-MAR-2023
DEFINITION  granulocyte colony-stimulating factor receptor isoform X2 [Homo
            sapiens].
ACCESSION   XP_011539051
VERSION     XP_011539051.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011540749.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..862
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..862
                     /product="granulocyte colony-stimulating factor receptor
                     isoform X2"
                     /calculated_mol_wt=94841
     Region          24..110
                     /region_name="Lep_receptor_Ig"
                     /note="Ig-like C2-type domain; pfam06328"
                     /db_xref="CDD:428890"
     Region          249..329
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(318..319,321..322)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          345..423
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(416..417,419..420)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          430..514
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          527..607
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Site            order(527,592,607)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     CDS             1..862
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /coded_by="XM_011540749.1:585..3173"
                     /db_xref="GeneID:1441"
                     /db_xref="HGNC:HGNC:2439"
                     /db_xref="MIM:138971"
ORIGIN      
        1 marlgncslt waaliilllp gsleecghis vsapivhlgd pitasciikq ncshldpepq
       61 ilwrlgaelq pggrqqrlsd gtqesiitlp hlnhtqafls cclnwgnslq ildqvelrag
      121 yppaiphnls clmnlttssl icqwepgpet hlptsftlks fksrgncqtq gdsildcvpk
      181 dgqshccipr khlllyqnmg iwvqaenalg tsmspqlcld pmdvvklepp mlrtmdpspe
      241 aappqagclq lcwepwqpgl hinqkcelrh kpqrgeaswa lvgplpleal qyelcgllpa
      301 taytlqirci rwplpghwsd wspslelrtt eraptvrldt wwrqrqldpr tvqlfwkpvp
      361 leedsgriqg yvvswrpsgq agailplcnt telsctfhlp seaqevalva ynsagtsrpt
      421 pvvfsesrgp altrlhamar dphslwvgwe ppnpwpqgyv iewglgppsa snsnktwrme
      481 qngratgfll kenirpfqly eiivtplyqd tmgpsqhvya ysqemapsha pelhlkhigk
      541 twaqlewvpe ppelgksplt hytifwtnaq nqsfsailna ssrgfvlhgl epaslyhihl
      601 maasqagatn stvltlmtlt pegselhiil glfglllllt clcgtawlcc spkknplwps
      661 vpdpahsslg swvptimeel pgprqgqwlg qtsemsralt phpcvqdafq lpglgtppit
      721 kltvleedek kpvpweshns setcglptlv qtyvlqgdpr avstqpqsqs gtsdqvlygq
      781 llgsptspgp ghylrcdstq pllagltpsp ksyenlwfqa splgtlvtpa psqeddcvfg
      841 pllnfpllqg irvhgmealg sf
//
LOCUS       XP_047272307            1606 aa            linear   PRI 20-MAR-2023
DEFINITION  terminal uridylyltransferase 4 isoform X19 [Homo sapiens].
ACCESSION   XP_047272307
VERSION     XP_047272307.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416351.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1606
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1606
                     /product="terminal uridylyltransferase 4 isoform X19"
                     /calculated_mol_wt=180725
     Region          97..>199
                     /region_name="rplD"
                     /note="50S ribosomal protein L4; Provisional; PRK14907"
                     /db_xref="CDD:184900"
     Region          265..600
                     /region_name="TUTase"
                     /note="TUTase nucleotidyltransferase domain; pfam19088"
                     /db_xref="CDD:436954"
     Region          628..677
                     /region_name="PAP_assoc"
                     /note="Cid1 family poly A polymerase; pfam03828"
                     /db_xref="CDD:427532"
     Region          929..>1223
                     /region_name="TRF4"
                     /note="DNA polymerase sigma [Replication, recombination
                     and repair]; COG5260"
                     /db_xref="CDD:227585"
     Region          971..1089
                     /region_name="NT_PAP_TUTase"
                     /note="Nucleotidyltransferase (NT) domain of poly(A)
                     polymerases and terminal uridylyl transferases; cd05402"
                     /db_xref="CDD:143392"
     Site            order(996..998,1008..1009,1011,1054..1055,1057,1059,1070,
                     1077..1078,1081..1082)
                     /site_type="active"
                     /db_xref="CDD:143392"
     Site            order(996,1054,1057,1059,1070,1077..1078)
                     /site_type="active"
                     /note="putative primer-binding pocket [active]"
                     /db_xref="CDD:143392"
     Site            order(1009,1011,1070)
                     /site_type="metal-binding"
                     /note="metal binding triad [ion binding]"
                     /db_xref="CDD:143392"
     Region          1242..>1337
                     /region_name="PTZ00368"
                     /note="universal minicircle sequence binding protein
                     (UMSBP); Provisional"
                     /db_xref="CDD:173561"
     Region          <1367..1553
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..1606
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /coded_by="XM_047416351.1:256..5076"
                     /db_xref="GeneID:23318"
                     /db_xref="HGNC:HGNC:28981"
                     /db_xref="MIM:613692"
ORIGIN      
        1 meesktlkse nhepkknvic eeskavqvig nqtlkarndk svkeienssp nrnsskknkq
       61 ndiciektev ksckvnaanl pgpkdlglvl rdqshckakk fpnspvkaek atisqaksek
      121 atslqakaek spkspnsvka ekassyqmks ekvpsspaea ekgpslllkd mrqktelqqi
      181 gkkipssfts vdkvnieavg gekcalqnsp rsqkqqtctd ntgdsddsas giedvsddls
      241 kmkndesnke nssemdylen atvidesalt peqrlglkqa eerlerdhif rlekrspeyt
      301 ncrylcklcl ihieniqgah khikekrhkk nilekqeese lrslpppspa hlaalsvavi
      361 elakehgitd ddlrvrqeiv eemskvittf lpecslrlyg ssltrfalks sdvnidikfp
      421 pkmnhpdlli kvlgilkknv lyvdvesdfh akvpvvvcrd rksgllcrvs agndmacltt
      481 dlltalgkie pvfiplvlaf rywaklcyid sqtdggipsy cfalmvmffl qqrkppllpc
      541 llgswiegfd pkrmddfqlk giveekfvkw ecnsssatek nsiaeenkak adqpkddtkk
      601 tetdnqsnam kekhgkspla letpnrvslg qlwlellkfy tldfaleeyv icvriqdilt
      661 renknwpkrr iaiedpfsvk rnvarslnsq lvyeyvverf raayryfacp qtkggnkstv
      721 dfkkrekgki snkkpvksnn matngcillg ettekinaer eqpvqcdemd ctsqrciidn
      781 nnllvneldf adhgqdsssl stsksseiep kldkkqddla psetclkkel sqcncidlsk
      841 spdpdkstgt dcrsnletes shqsvctdts atscnckate dasdlndddn lptqelyyvf
      901 dkfiltsgkp ptivcsickk dghskndcpe dfrkidlkpl ppmtnrfrei ldlvckrcfd
      961 elsppcseqh nreqiligle kfiqkeydek arlclfgssk ngfgfrdsdl dicmtleghe
     1021 naeklnckei ienlakilkr hpglrnilpi ttakvpivkf ehrrsglegd islyntlaqh
     1081 ntrmlatyaa idprvqylgy tmkvfakifd gkqipqrmvd gwnafffdkt eelkkrlpsl
     1141 gknteslgel wlgllrfyte efdfkeyvis irqkkllttf ekqwtskcia iedpfdlnhn
     1201 lgagvsrkmt nfimkafing rklfgtpfyp ligreaeyff dsrvltdgel apndrccrvc
     1261 gkighymkdc pkrksllfrl kkkdseeeke gneeekdsrd vldprdlhdt rdfrdprdlr
     1321 cficgdaghv rrecpevkla rqrnssvaaa qlvrnlvnaq qvagsaqqqg dqsirtrqss
     1381 ecsespsysp qpqpfpqnss qsaaitqpss qpgsqpklgp pqqgaqpphq vqmplynfpq
     1441 sppaqyspmh nmgllpmhpl qipapswpih gpvihsapgs apsniglndp siifaqpaar
     1501 pvaipntshd ghwprtvapn slvnsgavgn sepgfrgltp pipwehaprp hfplvpaswp
     1561 yglhqnfmhq gnarfqpnkp fytqdrcatr rcrercphpp rgnvse
//
LOCUS       XP_011539595             251 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 25 member 34 isoform X2 [Homo sapiens].
ACCESSION   XP_011539595
VERSION     XP_011539595.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011541293.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..251
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..251
                     /product="solute carrier family 25 member 34 isoform X2"
                     /calculated_mol_wt=26278
     Region          2..91
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          <119..197
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          203..>244
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     CDS             1..251
                     /gene="SLC25A34"
                     /coded_by="XM_011541293.2:229..984"
                     /db_xref="GeneID:284723"
                     /db_xref="HGNC:HGNC:27653"
                     /db_xref="MIM:610817"
ORIGIN      
        1 metvppavdl vlgasaccla cvftnplevv ktrlqlqgel qargtyprpy hgfiasvaav
       61 aradglwglq kglaagllyq glmngvrfyc yslacqaglt qqpggtvvag avagalgafv
      121 gspayliktq lqaqtvaava vghqhnhqtv lgaletiwrq qgllglwqgv ggavprvmvg
      181 saaqlatfas akawvqkqqw lpedswlval aggmissiav vvvmtpfdvv strlynqpvd
      241 tagrlrlrqi n
//
LOCUS       XP_016856756             447 aa            linear   PRI 20-MAR-2023
DEFINITION  calpain-8 isoform X3 [Homo sapiens].
ACCESSION   XP_016856756
VERSION     XP_016856756.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001267.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..447
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..447
                     /product="calpain-8 isoform X3"
                     /calculated_mol_wt=49336
     Region          46..342
                     /region_name="Peptidase_C2"
                     /note="Calpain family cysteine protease; pfam00648"
                     /db_xref="CDD:425798"
     Site            order(105,262,286)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:238004"
     Region          354..>378
                     /region_name="Calpain_III"
                     /note="Calpain, subdomain III. Calpains are
                     calcium-activated cytoplasmic cysteine proteinases,
                     participate in cytoskeletal remodeling processes, cell
                     differentiation, apoptosis and signal transduction.
                     Catalytic domain and the two calmodulin-like domains
                     are...; cl00165"
                     /db_xref="CDD:444722"
     CDS             1..447
                     /gene="CAPN8"
                     /gene_synonym="nCL-2"
                     /coded_by="XM_017001267.3:56..1399"
                     /db_xref="GeneID:388743"
                     /db_xref="HGNC:HGNC:1485"
                     /db_xref="MIM:618777"
ORIGIN      
        1 maaqaagvsr qraatqglgs nqnalkylgq dfktlrqqcl dsgvlfkdpe fpacpsalgy
       61 kdlgpgspqt qgiiwkrpte lcpspqfivg gatrtdicqg glgdcwllaa iasltlneel
      121 lyrvvprdqd fqenyagifh fqfwqygewv evviddrlpt kngqllflhs eqgnefwsal
      181 lekayaklng cyealaggst vegfedftgg isefydlkkp panlyqiirk alcagsllgc
      241 sidvssaaea eaitsqklvk shaysvtgve evnfqghpek lirlrnpwge vewsgawsdd
      301 apewnhidpr rkeeldkkve dgefwmslsd fvrqfsrlei cnlspdslss eevhkwnlvl
      361 fnghwtrgst aggcqnypvf pqedleavlp svalgswdpe ysqsstsgll vdqmdkhtfp
      421 nampyvcvcg cvgshvldqs pvqnpfg
//
LOCUS       XP_011508183             749 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase COP1 isoform X7 [Homo sapiens].
ACCESSION   XP_011508183
VERSION     XP_011508183.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011509881.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..749
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..749
                     /product="E3 ubiquitin-protein ligase COP1 isoform X7"
                     /calculated_mol_wt=82430
     Region          132..178
                     /region_name="RING-HC_COP1"
                     /note="RING finger, HC subclass, found in constitutive
                     photomorphogenesis protein 1 (COP1) and similar proteins;
                     cd16504"
                     /db_xref="CDD:438167"
     Region          <240..749
                     /region_name="PLN00181"
                     /note="protein SPA1-RELATED; Provisional"
                     /db_xref="CDD:177776"
     Region          491..528
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          535..571
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          576..614
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          620..659
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          663..685
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..749
                     /gene="COP1"
                     /gene_synonym="CFAP78; FAP78; RFWD2; RNF200"
                     /coded_by="XM_011509881.3:309..2558"
                     /db_xref="GeneID:64326"
                     /db_xref="HGNC:HGNC:17440"
                     /db_xref="MIM:608067"
ORIGIN      
        1 msgsrqagsg sagtspgssa assvtsasss lssspsppsv avsaaalvsg gvaqaagsgg
       61 lggpvrpvlv apavsgsggg avstglsrhs caarpsagvg gsssslgsgs rkrpllaplc
      121 nglinsyedk sndfvcpicf dmieeaymtk cghsfcykci hqslednnrc pkcnyvvdni
      181 dhlypnflvn elilkqkqrf eekrfkldhs vsstnghrwq ifqdwlgtdq dnldlanvnl
      241 mlellvqkkk qleaeshaaq lqilmeflkv arrnkreqle qiqkelsvle edikrveems
      301 glyspvseds tvpqfeapsp shslefssdm hrifvngili isiidsteys qppgfsgssq
      361 tkkqpwynst lasrrkrlta hfedleqcyf strmsrisdd srtasqldef qeclskftry
      421 nsvrplatls yasdlyngss ivssiefdrd cdyfaiagvt kkikvyeydt viqdavdihy
      481 penemtcnsk isciswssyh knllassdye gtvilwdgft gqrskvyqeh ekrcwsvdfn
      541 lmdpkllasg sddakvklws tnldnsvasi eakanvccvk fspssryhla fgcadhcvhy
      601 ydlrntkqpi mvfkghrkav syakfvsgee ivsastdsql klwnvgkpyc lrsfkghine
      661 knfvglasng dyiacgsenn slylyykgls ktlltfkfdt vksvldkdrk eddtnefvsa
      721 vcwralpdge snvliaansq gtikvlelv
//
LOCUS       XP_024303638             828 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 438 isoform X2 [Homo sapiens].
ACCESSION   XP_024303638
VERSION     XP_024303638.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024447870.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..828
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..828
                     /product="zinc finger protein 438 isoform X2"
                     /calculated_mol_wt=91706
     Region          <98..364
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          507..529
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          509..529
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          535..558
                     /region_name="zf-C2H2_4"
                     /note="C2H2-type zinc finger; pfam13894"
                     /db_xref="CDD:433562"
     Region          537..557
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..828
                     /gene="ZNF438"
                     /gene_synonym="bA330O11.1"
                     /coded_by="XM_024447870.2:342..2828"
                     /db_xref="GeneID:220929"
                     /db_xref="HGNC:HGNC:21029"
ORIGIN      
        1 mqnsvsvppk degesnipsg tiqsrkglqn ksqfrtiapk ivpkvltsrm lpchspsrsd
       61 qvnlgpsins kllgmstqny almqvagqeg tfslvalphv asaqpiqkpr mslpenlklp
      121 ipryqpprns kasrkkpili fpksgcskap aqtqmcpqms pspphhpell ykpspfeevp
      181 sleqapasis taaltngsdh gdlrppvtnt hgslnppatp asstpeepak qdltalsgka
      241 hfvskitssk psavasekfk eqvdlaktmt nlsptilgna vqlissvpkg klpippysrm
      301 ktmevykiks daniagfslp gpkadcdkip sttegfnaat kvasrlpvpq vsqqsacesa
      361 fcpptkldln hktklnsgaa krkgrkrkvp deilafqgkr rkyiinkcrd gkervkndpq
      421 efrdqklgtl kkyrsimpkp imviptlasl aspttlqsqm lgglgqdvll nnsltpkylg
      481 ckqdnssspk pssvfrngfs gikkpwhrch vcnhhfqfkq hlrdhmntht nrrpyscric
      541 rksyvrpgsl sthmklhhge nrlkklmcce fcakvfghir vyfghlkevh rvvistepap
      601 selqpgdipk nrdmsvrgme gslerenksn leedfllnqa devklqikcg rcqitaqsfa
      661 eikfhlldvh geeiegrlqe gtfpgskgtq eelvqhaspd wkrhpergkp ekvhsssees
      721 hacprlkrql hlhqngveml menegpqsgt nkpretcqgp ecpglhtfll wshsgfncll
      781 caemlgrked llhhwkhqhn cedpsklwai lntvsnqgvi elsseaek
//
LOCUS       XP_047281108             291 aa            linear   PRI 20-MAR-2023
DEFINITION  BLOC-3 complex member HPS1 isoform X4 [Homo sapiens].
ACCESSION   XP_047281108
VERSION     XP_047281108.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425152.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..291
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..291
                     /product="BLOC-3 complex member HPS1 isoform X4"
                     /calculated_mol_wt=32930
     Region          2..159
                     /region_name="Fuz_longin_1"
                     /note="First Longin domain of FUZ, MON1 and HPS1;
                     pfam19036"
                     /db_xref="CDD:408806"
     Region          204..>253
                     /region_name="Fuz_longin_2"
                     /note="Second Longin domain of FUZ, MON1 and HPS1;
                     pfam19037"
                     /db_xref="CDD:408807"
     CDS             1..291
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /coded_by="XM_047425152.1:244..1119"
                     /db_xref="GeneID:3257"
                     /db_xref="HGNC:HGNC:5163"
                     /db_xref="MIM:604982"
ORIGIN      
        1 mkcvlvateg aevlfywtdq efeeslrlkf gqseneeeel paledqlstl lapviissmt
       61 mleklsdtyt cfstengnfl yvlhlfgecl fiaingdhte segdlrrkly vlkylfevhf
      121 glvtvdghli rkelrppdla qrvqlwehfq sllwtysrlr eqeqcfavea lerlihpqlc
      181 elciealerh viqavntspe rggeealhaf llvhskllaf ysshsasslr padllalill
      241 vqdlypsest aeddiqetds fslpeeyftp apspgdqssg edrrkaggnn s
//
LOCUS       XP_047281400             606 aa            linear   PRI 20-MAR-2023
DEFINITION  RUN and FYVE domain-containing protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_047281400
VERSION     XP_047281400.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425444.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..606
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..606
                     /product="RUN and FYVE domain-containing protein 2 isoform
                     X2"
                     /calculated_mol_wt=69879
     Region          10..165
                     /region_name="RUN_RUFY2"
                     /note="RUN domain found in RUN and FYVE domain-containing
                     protein 2 (RUFY2) and similar proteins; cd17695"
                     /db_xref="CDD:439057"
     Region          230..>536
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          534..604
                     /region_name="FYVE_RUFY2"
                     /note="FYVE domain found in RUN and FYVE domain-containing
                     protein 2 (RUFY2) and similar proteins; cd15759"
                     /db_xref="CDD:277298"
     Site            order(537,540,558..563,565..566,588..590)
                     /site_type="other"
                     /note="putative phosphatidylinositol 3-phosphate binding
                     site [chemical binding]"
                     /db_xref="CDD:277298"
     CDS             1..606
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /coded_by="XM_047425444.1:752..2572"
                     /db_xref="GeneID:55680"
                     /db_xref="HGNC:HGNC:19761"
                     /db_xref="MIM:610328"
ORIGIN      
        1 matkdptave ranllnmakl sikgliesal sfgrtldsdy pplqqffvvm ehclkhglkv
       61 rksflsynkt iwgplelvek lypeaeeiga svrdlpglkt plgrarawlr lalmqkkmad
      121 ylrcliiqrd llsefyeyha lmmeeegavi vgllvglnvi danlcvkged ldsqvgvidf
      181 smylkneedi gnkernvqia aildqknyve elnrqlnstv sslhsrvdsl eksntkliee
      241 laiaknniik lqeenhqlrs enklilmktq qhlevtkvdv etelqtykhs rqgldemyne
      301 arrqlrdesq lrqdvenela vqvsmkheie lamkllekdi hekqdtligl rqqleevkai
      361 niemyqklqg sedglkekne iiarleektn kitaamrqle qrlqqaekaq meaededeky
      421 lqeclsksds lqkqisqkek qlvqletdlk iekewrqtlq edlqkekdal shlrnetqqi
      481 islkkeflnl qdenqqlkki yheqeqalqe lgnklseskl kiedikeank alqglvwlkd
      541 keathcklce kefslskrkh hcrncgeifc nacsdnelpl psspkpvrvc dschalliqr
      601 cssnlp
//
LOCUS       XP_047282710             300 aa            linear   PRI 20-MAR-2023
DEFINITION  ETS homologous factor isoform X1 [Homo sapiens].
ACCESSION   XP_047282710
VERSION     XP_047282710.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426754.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..300
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..300
                     /product="ETS homologous factor isoform X1"
                     /calculated_mol_wt=34761
     Region          39..116
                     /region_name="SAM_PNT-ESE-3-like"
                     /note="Sterile alpha motif (SAM)/Pointed domain of ESE-3
                     like ETS transcriptional regulators; cd08539"
                     /db_xref="CDD:188882"
     Region          206..293
                     /region_name="ETS"
                     /note="erythroblast transformation specific domain;
                     smart00413"
                     /db_xref="CDD:197710"
     CDS             1..300
                     /gene="EHF"
                     /gene_synonym="ESE3; ESE3B; ESEJ"
                     /coded_by="XM_047426754.1:223..1125"
                     /db_xref="GeneID:26298"
                     /db_xref="HGNC:HGNC:3246"
                     /db_xref="MIM:605439"
ORIGIN      
        1 milegggvmn lnpgnnllhq ppawtdsyst cnvssgffgg qwheihpqyw tkyqvwewlq
       61 hlldtnqlda ncipfqefdi ngehlcsmsl qeftraagta gqllysnlqh lkwngqcssd
      121 lfqsthnviv kteqtepsim ntwkdenyly dtnygstvdl ldsktfcraq ismtttshlp
      181 vaespdmkke qdppakchtk khnprgthlw efirdillnp dknpglikwe drsegvfrfl
      241 kseavaqlwg kkknnssmty eklsramryy ykreilervd grrlvykfgk nargwrenen
//
LOCUS       XP_047284154             404 aa            linear   PRI 20-MAR-2023
DEFINITION  G-protein coupled receptor 182 isoform X1 [Homo sapiens].
ACCESSION   XP_047284154
VERSION     XP_047284154.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428198.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..404
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..404
                     /product="G-protein coupled receptor 182 isoform X1"
                     /calculated_mol_wt=45192
     Region          54..331
                     /region_name="7tmA_GPR182"
                     /note="G protein-coupled receptor 182, member of the class
                     A family of seven-transmembrane G protein-coupled
                     receptors; cd14988"
                     /db_xref="CDD:320119"
     Region          55..81
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320119"
     Region          88..112
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320119"
     Site            order(109,112..113,126..131,133..134,137,182,184..188,215,
                     218..220,222..224,226..227,271,274..275,277..278,281,
                     298..299,301..303,306,309..310)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320119"
     Region          126..156
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320119"
     Region          169..190
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320119"
     Region          215..240
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320119"
     Region          251..281
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320119"
     Region          299..324
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320119"
     CDS             1..404
                     /gene="GPR182"
                     /gene_synonym="7TMR; ADMR; AM-R; AMR; G10D; gamrh; hrhAMR;
                     L1-R"
                     /coded_by="XM_047428198.1:174..1388"
                     /db_xref="GeneID:11318"
                     /db_xref="HGNC:HGNC:13708"
                     /db_xref="MIM:605307"
ORIGIN      
        1 msvkpswgpg psegvtavpt sdlgeihnwt elldlfnhtl sechvelsqs tkrvvlfaly
       61 lamfvvglve nllvicvnwr gsgraglmnl yilnmaiadl givlslpvwm levtldytwl
      121 wgsfscrfth yfyfvnmyss ifflvclsvd ryvtltsasp swqryqhrvr ramcagiwvl
      181 saiiplpevv hiqlvegpep mclfmapfet ystwalaval sttilgfllp fplitvfnvl
      241 tacrlrqpgq pksrrhclll cayvavfvmc wlpyhvtlll ltlhgthisl hchlvhllyf
      301 fydvidcfsm lhcvinpily nflsphfrgr llnavvhylp kdqtkagtca sssscstqhs
      361 iiitkgdsqp aaaaphpeps lsfqahhllp ntspisptqp ltps
//
LOCUS       XP_047284886             463 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 83 kDa isoform X5 [Homo sapiens].
ACCESSION   XP_047284886
VERSION     XP_047284886.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428930.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..463
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..463
                     /product="centrosomal protein of 83 kDa isoform X5"
                     /calculated_mol_wt=54538
     Region          <37..409
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..463
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /coded_by="XM_047428930.1:466..1857"
                     /db_xref="GeneID:51134"
                     /db_xref="HGNC:HGNC:17966"
                     /db_xref="MIM:615847"
ORIGIN      
        1 mvvstftdmd tfpnnfppgg dsgltgsqse fqkmliderl rcehhkanyq tlkaehtrlq
       61 nehvklqnel khlfnekqtq qeklqlllee lrgelvektk dleemklqil tpqklellra
      121 qiqqeletpm rerfrnldee vekyravynk lryehtflks efehqkeeya rildegkiky
      181 eseiarleed keelrnqlln vdltkdskrv eqlarekvyl cqklkgleae vaelkaeken
      241 seaqvenaqr iqvrqlaemq atvrsleaek qsanlraerl ekelqssseq ntflinklhk
      301 aereintlss kvkelkhsnk leitdiklet arakselere rnkiqseldg lqsdneilka
      361 avehhkvllv ekdrelirkv qaakeegyqk lvvlqdekle lenrladlek mkvehdvwrq
      421 sekdqyeekl rasqmaeeit rkelqsvrmf cdslslslpq pwn
//
LOCUS       XP_047286060             428 aa            linear   PRI 20-MAR-2023
DEFINITION  purine nucleoside phosphorylase LACC1 isoform X2 [Homo sapiens].
ACCESSION   XP_047286060
VERSION     XP_047286060.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430104.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..428
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..428
                     /product="purine nucleoside phosphorylase LACC1 isoform
                     X2"
                     /calculated_mol_wt=47653
     Region          195..378
                     /region_name="Cu-oxidase_4"
                     /note="Multi-copper polyphenol oxidoreductase laccase;
                     pfam02578"
                     /db_xref="CDD:426846"
     CDS             1..428
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /coded_by="XM_047430104.1:592..1878"
                     /db_xref="GeneID:144811"
                     /db_xref="HGNC:HGNC:26789"
                     /db_xref="MIM:613409"
ORIGIN      
        1 maeavlidlf glklnsqknc hqtllktlna vqyhhaakak flcimccsni syerdgeqdn
       61 ceietsngls alleefeivs cpsmaatlyt ikqkideknl ssikvivprh rktlmkafid
      121 qlftdvynfe fedlqvtfrg glfkqsiein vitaqelrgi qneietflrs lpalrgklti
      181 itsslipdif ihgfttrtgg isyiptlssf nlfssskrrd pkvvvqenlr rlanaagfnv
      241 ekfyrikthh sndiwimgrk epdsydgitt nqrgvtiaal gadcipivfa dpvkkacgva
      301 hagwkgtllg vamatvnami aeygcsledi vvvlgpsvgp ccftlpresa eafhnlhpac
      361 vqlfdspnpc idirkatryl tgflyncflp pskltarekf scliylkpng lqwiihllgi
      421 flllfkak
//
LOCUS       XP_047287038             212 aa            linear   PRI 20-MAR-2023
DEFINITION  tubulinyl-Tyr carboxypeptidase 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047287038
VERSION     XP_047287038.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431082.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..212
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..212
                     /product="tubulinyl-Tyr carboxypeptidase 1 isoform X1"
                     /calculated_mol_wt=24212
     Region          <1..149
                     /region_name="Vasohibin"
                     /note="pfam14822"
                     /db_xref="CDD:434242"
     CDS             1..212
                     /gene="VASH1"
                     /gene_synonym="KIAA1036; TTCP 1"
                     /coded_by="XM_047431082.1:2083..2721"
                     /db_xref="GeneID:22846"
                     /db_xref="HGNC:HGNC:19964"
                     /db_xref="MIM:609011"
ORIGIN      
        1 mdlakemtke alpikcleav ilgiyltnsm ptlerfpisf ktyfsgnyfr hivlgvnfag
       61 rygalgmsrr edlmykppaf rtlselvldf eaaygrcwhv lkkvklgqsv shdphsveqi
      121 ewkhsvldve rlgrddfrke lerhardmrl kigkgtgpps ptkdrkkdvs spqraqssph
      181 rrnsrserrp sgdkktsepk ampdlngyqi rv
//
LOCUS       XP_047287391            2046 aa            linear   PRI 20-MAR-2023
DEFINITION  ninein isoform X7 [Homo sapiens].
ACCESSION   XP_047287391
VERSION     XP_047287391.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431435.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2046
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..2046
                     /product="ninein isoform X7"
                     /calculated_mol_wt=237497
     Region          403..1240
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          920..1648
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          1508..>1957
                     /region_name="Mplasa_alph_rch"
                     /note="helix-rich Mycoplasma protein; TIGR04523"
                     /db_xref="CDD:275316"
     CDS             1..2046
                     /gene="NIN"
                     /gene_synonym="SCKL7"
                     /coded_by="XM_047431435.1:233..6373"
                     /db_xref="GeneID:51199"
                     /db_xref="HGNC:HGNC:14906"
                     /db_xref="MIM:608684"
ORIGIN      
        1 mdeveqdqhe arlkelfdsf dttgtgslgq eeltdlchml sleevapvlq qtllqdnllg
       61 rvhfdqfkea lililsrtls neehfqepas vgvscqqvar vsgpllnghk lthcllikdc
      121 sleaqpkyvr ggkrygrrsl pefqesveef pevtviepld eearpshipa gdcsehwktq
      181 rseeyeaegq lrfwnpddln asqsgssppq dwieeklqev cedlgitrdg hlnrkklvsi
      241 ceqyglqnvd gemleevfhn ldpdgtmsve dffyglfkng ksltpsastp yrqlkrhlsm
      301 qsfdesgrrt ttssamtsti gfrvfscldd gmghasveri ldtwqeegie nsqeilkald
      361 fsldgninlt eltlalenel lvtknsihqa alasfkaeir hllervdqvv rekeklrsdl
      421 dkaeklkslm asevddhhaa ierrneynlr kldeeykeri aalknelrke reqilqqagk
      481 qrleleqeie kakteenyir drlalslken srlenellen aeklaeyenl tnklqrnlen
      541 vlaekvlqdq vdelqselee yraqgrvlrl plknspseev eansggiepe hglgseecnp
      601 lnmsieaelv ieqmkeqhhr dicclrlele dkvrhyekql detvvsckka qenmkqrhen
      661 ethtlekqis dlkneiaelq gqaavlkeah heatcrheee kkqlqvklee ekthlqeklr
      721 lqhemelkar ltqaqasfer ereglqssaw teekvrgltq eleqfhqeql tslvekhtle
      781 keelrkelle khqrelqegr ekmetecnrr tsqieaqfqs dcqkvterce salqslegry
      841 rqelkdlqeq qreeksqwef ekdeltqeca eaqellketl krekttslvl tqeremlekt
      901 ykehlnsmvv erqqllqdle dlrnvsetqq sllsdqilel ksshkrelre reevlcqaga
      961 seqlasqrle rlemehdqer qemmskllam enihkatcet adreraemst eisrlqskik
     1021 emqqatspls mlqsgcqvig eeevegdgal sllqqgeqll eengdvllsl qraheqavke
     1081 nvkmateisr lqqrlqklep glvmssclde pateffgnta eqteqflqqn rtkqvegvtr
     1141 rhvlsdledd evrdlgstgt ssvqrqevki eeseasvegf selenseetr teswelknqi
     1201 sqlqeqlmml cadcdrasek kqdllfdvsv lkkklkmler ipeaspkykl lyedvsrend
     1261 clqeelrmme trydealenn keltaevfrl qdelkkmeev tetflsleks ydevkieneg
     1321 lnvlvlrlqg kieklqesvv qrcdcclwea slenleiepd gnilqlnqtl eecvprvrsv
     1381 hhvieeckqe nqylegntql lekvkaheia wlhgtiqthq erprvqnqvi leenttllgf
     1441 qdkhfqhqat iaelelektk lqeltrklke rvtilvkqkd vlshgekeee lkammhdlqi
     1501 tcsemqqkve llryeseklq qensilrnei ttlneedsis nlklgtlngs qeemwqktet
     1561 vkqenaavqk mvenlkkqis elkiknqqld lentelsqkn sqnqeklqel nqrltemlcq
     1621 kekepgnsal eereqekfnl keelerckvq sstlvsslea elsevkiqth ivqqenhllk
     1681 delekmkqlh rcpdlsdfqq kissvlsyne kllkekeals eelnscvdkl akssllehri
     1741 atmkqeqksw ehqsaslksq lvasqekvqn ledtvqnvnl qmsrmksdlr vtqqekealk
     1801 qevmslhkql qnaggkswap eiathpsglh nqqkrlswdk ldhlmneeqq llwqenerlq
     1861 tmvqntkael thsrekvrql esnllpkhqk hlnpsgtmnp teqeklslkr ecdqfqkeqs
     1921 panrkvsqmn sleqeletih leneglkkkq vkldeqlmem qhlrstatps psphawdlql
     1981 lqqqacpmvp reqflqlqrq llqaerinqh lqeelenrts etntpqallp eqravhadsy
     2041 rrighl
//
LOCUS       XP_047287972             842 aa            linear   PRI 20-MAR-2023
DEFINITION  disks large-associated protein 5 isoform X2 [Homo sapiens].
ACCESSION   XP_047287972
VERSION     XP_047287972.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432016.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..842
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..842
                     /product="disks large-associated protein 5 isoform X2"
                     /calculated_mol_wt=94047
     Region          <24..>196
                     /region_name="PspC_subgroup_1"
                     /note="pneumococcal surface protein PspC, choline-binding
                     form; NF033838"
                     /db_xref="CDD:411407"
     Region          <414..601
                     /region_name="GKAP"
                     /note="Guanylate-kinase-associated protein (GKAP) protein;
                     pfam03359"
                     /db_xref="CDD:427260"
     CDS             1..842
                     /gene="DLGAP5"
                     /gene_synonym="DLG7; HURP"
                     /coded_by="XM_047432016.1:519..3047"
                     /db_xref="GeneID:9787"
                     /db_xref="HGNC:HGNC:16864"
                     /db_xref="MIM:617859"
ORIGIN      
        1 mssshfasrh rkdistemir tkiahrksls qkenrhkeye rnrhfglkdv niptlegril
       61 veldetsqgl vpektnvkpr amktilgdqr kqmlqkykee kqlqklkeqr ekakrgifkv
      121 gryrpdmpcf llsnqnavka epkkaipssv ritrskakdq meqtkidnes dvrairpgpr
      181 qtsekkvsdk ekkvvqpvmp tslrmtrsat qaakqvprtv ssttarkpvt raanenepeg
      241 kvpskgrpak nvetkpdkgi sckvdseent lnsqtnatsg mnpdgvlskm enlpeintak
      301 ikgknsfapk dfmfqpldgl ktyqvtpmtp rsanafltps ytwtplktev desqatkeil
      361 aqkcktystk tiqqdsnklp cplgpltvwh eehvlnknea ttknlnglpi kevpslerne
      421 griaqphhgv pyfrnilqse tekltshcfe wdrkleldip ddakdlirta vgqtrllmke
      481 rfkqfeglvd dceykrgike ttctdldgfw dmvsfqiedv ihkfnnlikl eesgwqvnnn
      541 mnhnmnknvf rkkvvsgias kpkqddagri aarnrlaaik namrerirqe ecaetavsvi
      601 pkevdkivfd agffrvespv klfsglsvss egpsqrlgtp ksvnkavsqs rnemgipqqt
      661 tspenagpqn tksehvkktl flsipesrss iedaqcpglp dlieenhvvn ktdlkvdcls
      721 sermslplla ggvaddintn kkegisdvve gmelnssits qdvlmsspek ntasqnsile
      781 egetkisqse lfdnksltte chlldsvgsc yvaraglevl gssdpttsas rvagttarsk
      841 lq
//
LOCUS       XP_011544150             690 aa            linear   PRI 20-MAR-2023
DEFINITION  integrin alpha-D isoform X15 [Homo sapiens].
ACCESSION   XP_011544150
VERSION     XP_011544150.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011545848.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..690
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..690
                     /product="integrin alpha-D isoform X15"
                     /calculated_mol_wt=74535
     Region          149..324
                     /region_name="vWA_integrins_alpha_subunit"
                     /note="Integrins are a class of adhesion receptors that
                     link the extracellular matrix to the cytoskeleton and
                     cooperate with growth factor receptors to promote celll
                     survival, cell cycle progression and cell migration.
                     Integrins consist of an alpha and a beta...; cd01469"
                     /db_xref="CDD:238746"
     Site            order(149,151,172,252,254,283,313)
                     /site_type="active"
                     /note="integrin inhibitor binding pocket [active]"
                     /db_xref="CDD:238746"
     Site            order(156,158,160,225,258)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238746"
     Site            order(158..160,162,225)
                     /site_type="active"
                     /note="integrin-collagen binding site [active]"
                     /db_xref="CDD:238746"
     Region          464..>506
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          528..583
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          593..>625
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     CDS             1..690
                     /gene="ITGAD"
                     /gene_synonym="ADB2; CD11D"
                     /coded_by="XM_011545848.4:27..2099"
                     /db_xref="GeneID:3681"
                     /db_xref="HGNC:HGNC:6146"
                     /db_xref="MIM:602453"
ORIGIN      
        1 mtfgtvllls vlasyhgfnl dveeptifqe daggfgqsvv qfggsrlvvg aplevvaanq
       61 tgrlydcaaa tgmcqpiplh irpeavnmsl gltlaastng srllacgptl hrvcgensys
      121 kgsclllgsr weiiqtvpda tpecphqemd ivflidgsgs idqndfnqmk gfvqavmgqf
      181 egtdtlfalm qysnllkihf tftqfrtsps qqslvdpivq lkgltftatg iltvvtqlfh
      241 hkngarksak kilivitdgq kykdpleysd vipqaekagi iryaigvgha fqgptarqel
      301 ntissappqd hvfkvdnfaa lgsiqkqlqe kiyavegtqs rasssfqhem sqegfstalt
      361 mslpspgils sqdglflgav gsfswsggaf lyppnmsptf inmsqenvdm rdsylgyste
      421 lalwkgvqnl vlgapryqht gkaviftqvs rqwrkkaevt gtqigsyfga slcsvdvdsd
      481 gstdliliga phyyeqtrgg qvsvcplprg qrvqwqcdav lrgeqghpwg rfgaaltvlg
      541 dvnedklidv aigapgeqen rgavylfhga sesgispshs qriassqlsp rlqyfgqals
      601 ggqdltqdgl mdlavgargq vlllrslpvl kvgvamrfsp vevakavyrc weekpsalea
      661 gdatvcltiq kssldqlapl reelwarwpl
//
LOCUS       XP_005256009             326 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C16orf86 isoform X3 [Homo sapiens].
ACCESSION   XP_005256009
VERSION     XP_005256009.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005255952.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..326
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..326
                     /product="uncharacterized protein C16orf86 isoform X3"
                     /calculated_mol_wt=34250
     Region          1..184
                     /region_name="DUF4691"
                     /note="Domain of unknown function (DUF4691); pfam15762"
                     /db_xref="CDD:434916"
     CDS             1..326
                     /gene="C16orf86"
                     /coded_by="XM_005255952.6:158..1138"
                     /db_xref="GeneID:388284"
                     /db_xref="HGNC:HGNC:33755"
ORIGIN      
        1 masagaerrp gvqeatvvgq gqlteepgsa qtsecpvagd qflvpahear gtqsedqrpa
       61 gaaseselqe egpklgeerp kphagaleer gprpvvsivr prhgpkrkpv kslslpglra
      121 hlkaeaelpp klplqeeepe dsqsepspsa kqhkkakkrk slgapvlhav asmvsaplet
      181 lrlepsalpw vfagkaqrlr plyqyvnycn pelnqagkgd geaeveaeae lapvpeeggv
      241 eqlqallpla gelgpglalp cpsplvtpth alaplgeeag eepgglpslg vsdhkaevdk
      301 stqvdidkml svctaplvpp lspqyk
//
LOCUS       XP_024306138             586 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4 [Homo
            sapiens].
ACCESSION   XP_024306138
VERSION     XP_024306138.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024450370.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..586
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..586
                     /product="acyl-coenzyme A synthetase ACSM3, mitochondrial
                     isoform X4"
                     /calculated_mol_wt=66022
     Region          54..583
                     /region_name="MACS_euk"
                     /note="Eukaryotic Medium-chain acyl-CoA synthetase (MACS
                     or ACSM); cd05928"
                     /db_xref="CDD:341251"
     Site            order(153,280..282,306,326,328,332,352..355,374..379,
                     382..383,398,461,473,476,482,484..487,516,547,552..553,
                     555,557)
                     /site_type="active"
                     /db_xref="CDD:341251"
     Site            order(232,235..240,242..243)
                     /site_type="other"
                     /note="acyl-activating enzyme (AAE) consensus motif"
                     /db_xref="CDD:341251"
     Site            order(276,328..329,332,352,484..486,547,553)
                     /site_type="other"
                     /note="putative CoA binding site [chemical binding]"
                     /db_xref="CDD:341251"
     Site            order(352..355,374..379,398,461,473,476,482,487)
                     /site_type="other"
                     /note="AMP binding site [chemical binding]"
                     /db_xref="CDD:341251"
     CDS             1..586
                     /gene="ACSM3"
                     /gene_synonym="SA; SAH"
                     /coded_by="XM_024450370.2:1172..2932"
                     /db_xref="GeneID:6296"
                     /db_xref="HGNC:HGNC:10522"
                     /db_xref="MIM:145505"
ORIGIN      
        1 mlarvtrkml rhakcfqrla ifgsvralhk dnrtatpqnf snyesmkqdf klgipeyfnf
       61 akdvldqwtd kekagkkpsn pafwwinrng eemrwsfeel gslsrkfani lseacslqrg
      121 drvililprv pewwlanvac lrtgtvlipg ttqltqkdil yrlqsskanc iitndvlapa
      181 vdavaskcen lhsklivsen sregwgnlke lmkhasdsht cvktkhneim aifftsgtsg
      241 ypkmtahths sfglglsvng rfwldltpsd vmwntsdtgw aksawssvfs pwiqgacvft
      301 hhlprfepts ilqtlskypi tvfcsaptvy rmlvqndits ykfkslkhcv sagepitpdv
      361 tekwrnktgl diyegygqte tvlicgnfkg mkikpgsmgk pspafdvkiv dvngnvlppg
      421 qegdigiqvl pnrpfglfth yvdnpsktas tlrgnfyitg drgymdkdgy fwfvaraddv
      481 ilssgyrigp fevenalneh psvaesavvs spdpirgevv kafvvlnpdy kshdqeqlik
      541 eiqehvkktt apykyprkve fiqelpktis gktkrnelrk kewkti
//
LOCUS       XP_047290724             874 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein regulatory complex subunit 7 isoform X1 [Homo sapiens].
ACCESSION   XP_047290724
VERSION     XP_047290724.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434768.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 12% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..874
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..874
                     /product="dynein regulatory complex subunit 7 isoform X1"
                     /calculated_mol_wt=103366
     Region          <173..>214
                     /region_name="Transglut_core"
                     /note="Transglutaminase-like superfamily; cl17362"
                     /db_xref="CDD:450180"
     CDS             1..874
                     /gene="DRC7"
                     /gene_synonym="C16orf50; CCDC135; CFAP50; FAP50"
                     /coded_by="XM_047434768.1:277..2901"
                     /db_xref="GeneID:84229"
                     /db_xref="HGNC:HGNC:25289"
                     /db_xref="MIM:618769"
ORIGIN      
        1 mevlrekvee eeeaereeaa ewaewarmek mmrpvevrke eitlkqetlr dlekklseiq
       61 itvsaelpaf tkdtidiskl pisyktntpk eehllqvadn fsrqyshlcp drvplflhpl
      121 necevpkfvs ttlrptlmpy pelynwdsca qfvsdfltmv plpdplkpps hlyssttvlk
      181 yqkgncfdfs tllcsmligs gydaycvngy gsldlchmdl trevcpltvk pketikkeek
      241 vlpkkytikp prdlcsrfeq eqevkkqqei raqekkrlre eeerlmeaek akpdalhglr
      301 vhswvlvlsg krevpenffi dpftghsyst qdehflgies lwnhknywin mqdcwncckd
      361 lifdlgdpvr weymllgtdk sqlslteedd sgindeddve nlgkededks fdmphswveq
      421 ieispeafet rcpngkkviq ykraklekwa pylnsnglvs rlttyedlqc tnileikewy
      481 qnredmlelk hinkttdlkt dyfkpghpqa lrvhsyksmq pemdrviefy etarvdglmk
      541 reetprtmte yyqgrpdfls yrhasfgprv kkltlssaes nprpivkite rffrnpakpa
      601 eedvaervfl vaeeriqlry hcredhitas kreflrrtev dskgnkiimt pdmcisfeve
      661 pmehtkklly qyeammhlkr eeklsrhqvw eselevleil klreeeeaah tltisiydtk
      721 rnekskeyre amermmheeh lrqvetqldy lapflaqlpp gekltcwqav rlkdeclsdf
      781 kqrlinkanl iqarfeketq elqkkqqwyq enqvtltped edlylsycsq amfririleq
      841 rlnrhkelap lkylaleekl ykdprlgelq kifa
//
LOCUS       XP_016881299            1345 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 532 isoform X2 [Homo sapiens].
ACCESSION   XP_016881299
VERSION     XP_016881299.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017025810.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1345
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..1345
                     /product="zinc finger protein 532 isoform X2"
                     /calculated_mol_wt=146723
     Region          800..822
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(800,803,816,822)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          828..863
                     /region_name="zf-RING_7"
                     /note="C4-type zinc ribbon domain; pfam02591"
                     /db_xref="CDD:426857"
     Region          829..849
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(829,832,845,849)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(834,836,838,840..841,844..845,848,863,867..868,
                     871..872,878,893,895,897,899..900,903..904)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          857..879
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          888..905
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          916..941
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          951..971
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1071..1091
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1071,1074,1087,1091)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(1076,1078,1080,1082..1083,1086..1087,1090,1106,1108,
                     1112..1113,1116..1117,1120,1139,1141,1143,1145..1146,
                     1149..1150)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          1101..1122
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1131..1151
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1220..1240
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1220,1223,1236,1240)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(1225,1227,1229,1231..1232,1235..1236,1239,1254,1256,
                     1260..1261,1264..1265,1268,1315,1317,1319,1321..1322,
                     1325..1326,1329)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          1243..1271
                     /region_name="zf-C2H2_11"
                     /note="zinc-finger C2H2-type; pfam16622"
                     /db_xref="CDD:435472"
     Region          1249..1296
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1309..1330
                     /region_name="zf-C2H2_6"
                     /note="C2H2-type zinc finger; pfam13912"
                     /db_xref="CDD:433576"
     Region          1310..1330
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..1345
                     /gene="ZNF532"
                     /coded_by="XM_017025810.2:579..4616"
                     /db_xref="GeneID:55205"
                     /db_xref="HGNC:HGNC:30940"
                     /db_xref="MIM:619066"
ORIGIN      
        1 mwkeatcqgp lkqirrkdnd tantegqsls rnthlnwleh llklmtmgdm ktpdfddlla
       61 afdipdmvdp kaaiesghdd heshmkqnah geddshapss sdvgvsvivk nvrnidsseg
      121 gekdghnptg nglhngflta ssldsyskdg akslkgdvpa sevtlkdstf sqfspissae
      181 efdddekiev ddppdkedmr ssfrsnvltg sapqqdydkl kalggenssk tglstsgnve
      241 knkavkrete assinlsvye pfkvrkaedk lkessdkvle nrvldgklss ekndtslpsv
      301 apsktksssk lssciaaiaa lsakkaasds ckepvansre ssplpkevnd spraadkspe
      361 sqnlidgtkk pslkqpdspr sissensskg spsspagstp aipkvrikti ktssgeikrt
      421 vtrvlpevdl dsgkkpseqt asvmasvtsl lsspasaavl ssppraplqs avvtnavspa
      481 eltpkqvtik pvataflpvs avktagsqvi nlklannttv katvisaasv qsassaiika
      541 anaiqqqtvv vpasslanak lvpktvhlan lnllpqgaqa tselrqvltk pqqqikqaii
      601 naaasqppkk vsrvqvvssl qssvveafnk vlssvnpvpv yipnlsppan agitlptrgy
      661 kclecgdsfa leksltqhyd rrsvrievtc nhctknlvfy nkcsllshar ghkekgvvmq
      721 cshlilkpvp adqmivspss ntstststlq spvgagthtv tkiqsgitgt visapsstpi
      781 tpampldedp sklcrhslkc lecnevfqde tslathfqqa adtsgqktct icqmllpnqc
      841 syashqrihq hkspytcpec gaicrsvhfq thvtknclhy trrvgfrcvh cnvvysdvaa
      901 lkshiqgshc evfykcpicp mafksapsth shaytqhpgi kigepkiiyk csmcdtvftl
      961 qtllyrhfdq hienqkvsvf kcpdcsllya qkqlmmdhik smhgtlksie gppnlginlp
     1021 lsikpatqns anqnkedtks mngkeklekk spspvkksme tkkvaspgwt cwecdclfmq
     1081 rdvyishvrk ehgkqmkkhp crqcdksfss shslcrhnri khkgirkvya cshcpdsrrt
     1141 ftkrlmlekh vqlmhgikdp dlkemtdatn eeeteikedt kvpspkrkle epvlefrppr
     1201 gaitqplkkl kinvfkvhkc avcgfttenl lqfhehipqh ksdgssyqcr ecglcytshv
     1261 slsrhlfivh klkepqpvsk qngagednqq enkpshedes pdgavsdrkc kvcaktfete
     1321 aalnthmrth gmafikskrm ssaek
//
LOCUS       XP_016881996            1412 aa            linear   PRI 20-MAR-2023
DEFINITION  microtubule-associated serine/threonine-protein kinase 3 isoform X3
            [Homo sapiens].
ACCESSION   XP_016881996
VERSION     XP_016881996.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017026507.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1412
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..1412
                     /product="microtubule-associated serine/threonine-protein
                     kinase 3 isoform X3"
                     /calculated_mol_wt=154108
     Region          152..425
                     /region_name="DUF1908"
                     /note="Domain of unknown function (DUF1908); pfam08926"
                     /db_xref="CDD:430324"
     Region          460..739
                     /region_name="STKc_MAST"
                     /note="Catalytic domain of the Protein Serine/Threonine
                     Kinase, Microtubule-associated serine/threonine kinase;
                     cd05609"
                     /db_xref="CDD:270760"
     Site            order(467..471,475,488,490,522,538..539,541,545,547,584,
                     586,588..589,591,601..602,605,634..639,666,672,675)
                     /site_type="active"
                     /db_xref="CDD:270760"
     Site            order(467..471,475,488,490,522,539..541,545,584,586,
                     588..589,591,601..602)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270760"
     Site            order(471,545,547,584,586,588,605,634..639,666,672,675)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270760"
     Site            order(601..611,631..639)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270760"
     Region          1045..1126
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(1053..1056,1058,1113..1114,1117..1118)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     CDS             1..1412
                     /gene="MAST3"
                     /gene_synonym="DEE108"
                     /coded_by="XM_017026507.2:58..4296"
                     /db_xref="GeneID:23031"
                     /db_xref="HGNC:HGNC:19036"
                     /db_xref="MIM:612258"
ORIGIN      
        1 miqlvgrclk apvvggcwgt gtlprepalf palaqavgrv ldresmrtae gkvldlgagq
       61 sqrlhkgcpl patfpvphwv hrglkrarvr hrhpqtvgfa lrgrkdragg awcwwgcscr
      121 sgnrkslvvg tpsptlsrpl splsvptags spldsprnfs aasalnfpfa rradgrrwsl
      181 aslpssgygt ntpsstlsss sssrerlhql pfqptpdelh flskhfrsse nvldeeggrs
      241 prlrprsrsl spgratgtfd neivmmnhvy rerfpkataq megrlqeflt ayapgarlal
      301 adgvlgfihh qivelardcl aksgenlvts ryflemqekl erllqdaher sdseevsfiv
      361 qlvrklliii srparllecl efdpeefyhl leaaeghare gqgiktdlpq yiigqlglak
      421 dpleemvpls hleeeqppap espesralvg qsrrkpcesd fetiklisng aygavylvrh
      481 rdtrqrfaik kinkqnlilr nqiqqvfver diltfaenpf vvsmfcsfet rrhlcmvmey
      541 veggdcatll knmgplpvdm arlyfaetvl aleylhnygi vhrdlkpdnl litslghikl
      601 tdfglskigl msmatnlyeg hiekdarefi dkqvcgtpey iapevifrqg ygkpvdwwam
      661 gvvlyeflvg cvpffgdtpe elfgqvvsde imwpegdeal padaqdlitr llrqspldrl
      721 gtggthevkq hpfflaldwa gllrhkaefv pqleaeddts yfdtrseryr hlgseddetn
      781 deessteipq fsscshrfsk vyssseflav qptptfaers fsedreegwe rsevdygrrl
      841 sadirlrswt ssgsscqsss sqpergpsps llntisldtm pkfafssede gvgpgpagpk
      901 rpvfilgepd pppaatpvmp kpsslsadta alsharlrsn sigarhstpr pldagrgrrl
      961 ggprdpapek srasssggsg ggsggrvpks asvsalslii taddgsggpl msplsprsls
     1021 snpssrdssp srdpspvcgs lrppivihss gkkygfslra irvymgdsdv ytvhhvvwsv
     1081 edgspaqeag lragdlithi ngesvlglvh mdvvelllks gnkislrtta lentsikvgp
     1141 arknvakgrm arrskrsrrr etqdrcaavt trerrkslfk kiskqtsvlh tsrsfssglh
     1201 hslssseslp gspthslsps pttpcrspap dvpadttasp psaspssssp aspaaaghtr
     1261 psslhglaak lgpprpktgr rkstssipps placppisap pprspsplpg hppaparspr
     1321 lrrgqsadkl gtgerldgea grrtrgpeae lvvmrrlhls errdsfkkqe avqevsfdep
     1381 qeeatglpts vpqiavegee avpvalgptg rd
//
LOCUS       XP_011526224            1815 aa            linear   PRI 20-MAR-2023
DEFINITION  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8
            isoform X7 [Homo sapiens].
ACCESSION   XP_011526224
VERSION     XP_011526224.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011527922.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1815
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..1815
                     /product="C3 and PZP-like alpha-2-macroglobulin
                     domain-containing protein 8 isoform X7"
                     /calculated_mol_wt=198931
     Region          <106..>310
                     /region_name="YfaS"
                     /note="Uncharacterized conserved protein YfaS,
                     alpha-2-macroglobulin family [General function prediction
                     only]; COG2373"
                     /db_xref="CDD:225248"
     Region          176..268
                     /region_name="A2M_N"
                     /note="MG2 domain; pfam01835"
                     /db_xref="CDD:426464"
     Region          397..>464
                     /region_name="MG4"
                     /note="Macroglobulin domain MG4; pfam17789"
                     /db_xref="CDD:436046"
     Region          502..673
                     /region_name="A2M_N_2"
                     /note="Alpha-2-macroglobulin family N-terminal region;
                     pfam07703"
                     /db_xref="CDD:429608"
     Region          797..888
                     /region_name="A2M"
                     /note="Alpha-2-macroglobulin family; pfam00207"
                     /db_xref="CDD:425525"
     Region          1032..1133
                     /region_name="Methyltransf_FA"
                     /note="Farnesoic acid 0-methyl transferase; pfam12248"
                     /db_xref="CDD:432424"
     Region          1188..1476
                     /region_name="A2M_2"
                     /note="Proteins similar to alpha2-macroglobulin (alpha
                     (2)-M). This group also contains the pregnancy zone
                     protein (PZP). Alpha(2)-M and PZP are broadly specific
                     proteinase inhibitors. Alpha (2)-M is a major carrier
                     protein in serum. The structural thioester...; cd02897"
                     /db_xref="CDD:239227"
     Site            order(1191,1193..1194,1197,1237,1247,1250,1302,1304..1305,
                     1460)
                     /site_type="other"
                     /note="surface patch"
                     /db_xref="CDD:239227"
     Site            1191..1194
                     /site_type="active"
                     /note="thioester region [active]"
                     /db_xref="CDD:239227"
     Site            order(1291,1295,1297,1305)
                     /site_type="other"
                     /note="specificity defining residues"
                     /db_xref="CDD:239227"
     Region          1614..1707
                     /region_name="A2M_recep"
                     /note="A-macroglobulin receptor; pfam07677"
                     /db_xref="CDD:429588"
     Region          1759..>1791
                     /region_name="KAZAL"
                     /note="Kazal type serine protease inhibitors; smart00280"
                     /db_xref="CDD:197624"
     CDS             1..1815
                     /gene="CPAMD8"
                     /gene_synonym="ASGD8; K-CAP; VIP"
                     /coded_by="XM_011527922.2:28..5475"
                     /db_xref="GeneID:27151"
                     /db_xref="HGNC:HGNC:23228"
                     /db_xref="MIM:608841"
ORIGIN      
        1 mapgalrggc eqrapgggar taalgpwpwp spgpapspga apprsrkmsg allwpllpll
       61 llllsardgv raaqpqapgy liaapsvfra gveevisvti fnsprevtvq aqlvaqgepv
      121 vqsqgaildk gtiklkvptg lrgqallkvw grgwqaeegp lfhnqtsvtv dgrgasvfiq
      181 tdkpvyrpqh rvlisiftvs pnlrpvnekl eayildprgs rmiewrhlkp fccgitnmsf
      241 plsdqpvlge wfifvemqgh aynksfevqk yvlpkfelli dppryiqdld acetgtvrar
      301 ytfgkpvaga lminmtvngv gyyshevgrp vlrttkilgs rdfdicvrdm ipadvpehfr
      361 grvsiwamvt svdgsqqvaf ddstpvqrql vdiryskdtr kqfkpglayv gkvelsypdg
      421 spaegvtvqi kaeltpkdni ytsevvsqrg lvgfeipsip tsaqhvwlet kvmalngkpv
      481 gaqylpsyls lgswyspsqc ylqlqppshp lqvgeeayfs vkstcpcnft lyyevaargn
      541 ivlsgqqpah ttqqrskraa palekpirlt hlsetepppa peaevdvcvt slhlavtpsm
      601 vplgrllvfy vrengegvad slqfavetff enqvsvtysa netqpgevvd lriraargsc
      661 vcvaavdksv yllrsgfrlt paqvfqeled ydvsdsfgvs redgpfwwag ltaqrrrrss
      721 vfpwpwgitk dsgfaftetg lvvmtdrvsl nhrqdgglyt deavpafqph tgslvavaps
      781 rhpprtekrk rtffpetwiw hclnisdpsg egtlsvkvpd sitswvgeav alstsqglgi
      841 aepsllktfk pffvdfmlpa liirgeqvki plsvynymgt caevymklsv pkgiqfvghp
      901 gkrhvtkkmc vapgeaepiw vvlsfsdlgl nnitakalay gdtnccrdgr sskhpeenha
      961 drrvpigvdh vrrsvmveae gvpraytysa ffcpservhi stpnkyefqy vqrplrltrf
     1021 dvavrahnda rvalssgpqd tagmieivlg ghqntrswis tskmgepvas ahtakilswd
     1081 efrtfwiswr ggliqvghgp epsnesviva wtlprppevq figfstgwgs mgefriwrkm
     1141 evdesyseaf tlgvphgaip gseratasii gdvmgptlnh lnnllrlpfg cgeqnmihfa
     1201 pnvfvlkylq ktqqlspeve rettdylvqg yqrqltykrq dgsysafger dasgsmwlta
     1261 fvlksfaqar sfifvdprel aaakswiiqq qqadgsflav grvlnkdiqg gihgtvplta
     1321 yvvvalletg taseeergst dkarhflesa aplamdpysc alttyaltll rspaapealr
     1381 klrslaimrd gvthwslsns wdvdkgtfls fsdrvsqsvv saevemtaya lltytllgdv
     1441 aaalpvvkwl sqqrnalggf sstqdtcval qalaeyails yagginltvs lastnldyqe
     1501 tfelhrtnqk vlqtaaipsl ptglfvsakg dgcclmqidv tynvpdpvak pafqllvslq
     1561 epeaqgrppp mpasaaegsr gdwppadddd paadqhhqey kvmlevctrw lhagssnmav
     1621 levpllsgfr adiesleqll ldkhmgmkry evagrrvlfy fdeipsrclt cvrfralrec
     1681 vvgrtsalpv svydyyepaf eatrfynvst hsplarelca gpacnevera pargpgwfpg
     1741 esgpavapee gaaiarcgcd hdcgaqgnpv cgsdgvvyas acrlreaacr qaaplepapp
     1801 sccalagrea ewsrp
//
LOCUS       XP_016858888             294 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclic AMP-responsive element-binding protein 1 isoform X6 [Homo
            sapiens].
ACCESSION   XP_016858888
VERSION     XP_016858888.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017003399.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..294
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..294
                     /product="cyclic AMP-responsive element-binding protein 1
                     isoform X6"
                     /calculated_mol_wt=30877
     Region          99..137
                     /region_name="pKID"
                     /note="pKID domain; pfam02173"
                     /db_xref="CDD:396650"
     CDS             1..294
                     /gene="CREB1"
                     /gene_synonym="CREB; CREB-1"
                     /coded_by="XM_017003399.3:182..1066"
                     /db_xref="GeneID:1385"
                     /db_xref="HGNC:HGNC:2345"
                     /db_xref="MIM:123810"
ORIGIN      
        1 mtmesgaenq qsgdaavtea enqqmtvqaq pqiatlaqvs mpaahatssa ptvtlvqlpn
       61 gqtvqvhgvi qaaqpsviqs pqvqtvqist iaesedsqes vdsvtdsqkr reilsrrpsy
      121 rkilndlssd apgvprieee kseeetsapa ittvtvptpi yqtssgqyia itqggaiqla
      181 nngtdgvqgl qtltmtnaaa tqpgttilqy aqttdgqqil vpsnqvvvqa asgdvqtyqi
      241 rtaptstiap gvvmasspal ptqpaeeaar krevrlmknr fmttatnklg tght
//
LOCUS       XP_016858970             428 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat, SAM and U-box domain-containing protein 1 isoform X2
            [Homo sapiens].
ACCESSION   XP_016858970
VERSION     XP_016858970.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017003481.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..428
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..428
                     /product="WD repeat, SAM and U-box domain-containing
                     protein 1 isoform X2"
                     /calculated_mol_wt=47113
     Region          4..309
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(11,27,31,37..38,52..53,71,75,81..82,94,96,113,118,
                     124..125,138,155,160,166..167,178..179,207,211,217..218,
                     237..238,255,260,266..267,279..280,298,302,308..309)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          16..52
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          57..93
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          101..135
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          142..177
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          183..236
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          242..266
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          284..326
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          328..399
                     /region_name="SAM_WDSUB1"
                     /note="SAM domain of WDSUB1 proteins; cd09505"
                     /db_xref="CDD:188904"
     Region          405..>424
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     CDS             1..428
                     /gene="WDSUB1"
                     /gene_synonym="UBOX6; WDSAM1"
                     /coded_by="XM_017003481.2:146..1432"
                     /db_xref="GeneID:151525"
                     /db_xref="HGNC:HGNC:26697"
ORIGIN      
        1 mvklihtlad hgddvnccaf sfsllatcsl dktirlyslr dftelphspl kfhtyavhcc
       61 cfspsghila scstdgttvl wntengqmla vmeqpsgspv rvcqfspdst clasgaadgt
      121 vvlwnaqsyk lyrcgsvkdg slaacafspn gsffvtgssc gdltvwddkm rclhsekahd
      181 lgitccdfss qpvsdgeqgl qffrlascgq dcqvkiwivs fthilgfelk ykstlsghca
      241 pvlacafshd gqmlvsgsvd ksvivydtnt enilhtltqh tryvttcafa pntlllatgs
      301 mdktvniwqf dletlcqarr tehqlkqfte dwseedvstw lcaqdlkdlv gifkmnnidg
      361 kellnltkes laddlkiesl glrskvlrki eelrtkvksl ssgipdefic pitrelmkdp
      421 viasayhk
//
LOCUS       XP_005246549            2240 aa            linear   PRI 20-MAR-2023
DEFINITION  bromodomain adjacent to zinc finger domain protein 2B isoform X4
            [Homo sapiens].
ACCESSION   XP_005246549
VERSION     XP_005246549.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005246492.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Mar 12, 2015 this sequence version replaced XP_005246549.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..2240
                     /product="bromodomain adjacent to zinc finger domain
                     protein 2B isoform X4"
                     /calculated_mol_wt=248108
     Region          742..814
                     /region_name="HAT_MBD"
                     /note="Methyl-CpG binding domains (MBD) present in
                     putative chromatin remodelling factor such as BAZ2A; BAZ2A
                     contains a MBD, DDT, PHD-type zinc finger and Bromo domain
                     suggesting that BAZ2A might be associated with histone
                     acetyltransferase (HAT) activity. The...; cd01397"
                     /db_xref="CDD:238691"
     Site            order(754,756,758,765,767,776,779,783)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238691"
     Region          895..>1070
                     /region_name="TPH"
                     /note="Trichohyalin-plectin-homology domain; pfam13868"
                     /db_xref="CDD:433539"
     Region          1098..1160
                     /region_name="DDT"
                     /note="domain in different transcription and chromosome
                     remodeling factors; smart00571"
                     /db_xref="CDD:214726"
     Region          1381..>1413
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          <1721..1760
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          1976..2024
                     /region_name="PHD_BAZ2B"
                     /note="PHD finger found in bromodomain adjacent to zinc
                     finger domain protein 2B (BAZ2B); cd15630"
                     /db_xref="CDD:277100"
     Site            order(1984,1990..1994,2012..2015)
                     /site_type="other"
                     /note="H3 histone binding site [polypeptide binding]"
                     /db_xref="CDD:277100"
     Region          2109..2205
                     /region_name="Bromo_BAZ2A_B_like"
                     /note="Bromodomain, BAZ2A/BAZ2B_like subfamily. Bromo
                     adjacent to zinc finger 2A (BAZ2A) and 2B (BAZ2B) were
                     identified as a novel human bromodomain gene by cDNA
                     library screening. BAZ2A is also known as Tip5
                     (Transcription termination factor I-interacting...;
                     cd05503"
                     /db_xref="CDD:99935"
     Site            order(2133,2138,2141,2180,2184,2190)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99935"
     CDS             1..2240
                     /gene="BAZ2B"
                     /gene_synonym="WALp4"
                     /coded_by="XM_005246492.5:283..7005"
                     /db_xref="GeneID:29994"
                     /db_xref="HGNC:HGNC:963"
                     /db_xref="MIM:605683"
ORIGIN      
        1 mesgerlpss aassttptss stpsvasvvs kgglstgvas lsstinpcgh lfrtagdqpf
       61 nlstvssafp mvshpvfglh sassghsefg glgtlgtpta laahpqlasf pewwrttdah
      121 trtgatffpp llgipplfap paqnhdsssf hsrtsgksnr ngpekgvngs ingsntssvi
      181 gintsvlstt asssmgqtks tssgggnrkc nqeqsknqpl darvdkikdk kprkkamess
      241 snsdsdsgts sdtssegiss sdsddleede eeedqsiees edddsdsese aqhksnnqvl
      301 lhgisdpkad gqkatekaqe krihqplpla sesqthsfqs qqkqpqvlsq qlpfifqssq
      361 akeesvnkht sviqstglvs nvkplslvnq akketymkli vpspdvlkag nkntseessl
      421 ltselrskre qykqafpsql kkqesskslk kviaalsnpk atssspahpk qtlennhpnp
      481 fltnallgnh qpngviqsvi qeaplalttk tkmqskinen iaaasstpfs spvnlstsgr
      541 rtpgnqtpvm psaspilhsq gkekavsnnv npvktqhhsh pakslveqfr gtdsdipssk
      601 dsedsnedee eddeeedeed deddesddsq sesdsnsesd tegseeeddd dkdqdesdsd
      661 tegektsmkl nkttssvksp smsltghstp rnlhiakapg sapaalcses qspaflgtss
      721 stltssphsg tskrrrvtde relripleyg wqretrirnf ggrlqgevay yapcgkklrq
      781 ypevikylsr ngimdisrdn fsfsakirvg dfyeardgpq gmqwcllkee dviprirame
      841 grrgrppnpd rqrareesrm rrrkgrppnv gnaefldnad akllrklqaq eiarqaaqik
      901 llrklqkqeq arvakeakkq qaimaaeekr kqkeqikimk qqekikriqq irmekelraq
      961 qileakkkkk eeaanaklle aekrikekem rrqqavllkh qelerhrldm vwererrrqh
     1021 mmlmkamear kkaeekerlk qekrdekrln kerkleqrrl elemakelkk pnedmcladq
     1081 kplpelprip glvlsgstfs dclmvvqflr nfgkvlgfdv nidvpnlsvl qegllnigds
     1141 mgevqdllvr llsaavcdpg litgykakta lgehllnvgv nrdnvseilq ifmeahcgqt
     1201 elteslktka fqahtpaqka svlaflinel acsksvvsei dknidymsnl rrdkwvvegk
     1261 lrklriihak ktgkrdtsgg idlgeeqhpl gtptpgrkrr rkggdsdydd dddddsddqg
     1321 deddedeedk edkkgkktdi cededegdqa asveelekqi eklskqqsqy rrklfdashs
     1381 lrsvmfgqdr yrrrywilpq cggifvegme sgegleeiak ereklkkaes vqikeemfet
     1441 sgdslncsnt dhceqkedlk ekdntnlflq kpgsfsklsk llevakmppe sevmtpkpna
     1501 gangctlsyq nsgkhslgsv qstatqsnve kadsnnlfnt gssgpgkfys plpndqllkt
     1561 lteknrqwfs llprtpcddt slthadmsta slvtpqsqpp skspsptpap lgssaqnpvg
     1621 lnpfalsplq vkggvsmmgl qfcgwptgvv tsnipftssv pslgsglgls egngnsflts
     1681 nvassksesp vpqnekatsa qpaavevakp vdfpspkpip eemqfgwwri idpedlkall
     1741 kvlhlrgire kalqkqiqkh ldyitqaclk nkdvaiieln eneenqvtrd ivenwsveeq
     1801 amemdlsvlq qvedlerrva saslqvkgwm cpepasered lvyfehksft klckehdgef
     1861 tgedessaha lerksdnpld iavtrladle rnierrylks plsttiqikl dnvgtvtvpa
     1921 papsvsgdgd gieediapgl rvwrralsea rsaaqvalci qqlqksiawe ksimkvycqi
     1981 crkgdneell llcdgcdkgc htychrpkit tipdgdwfcp aciakasgqt lkikklhvkg
     2041 kktneskkgk kvtltgdted edsastsssl krgnkdlkkr kmeentsinl skqesftsvk
     2101 kpkrddskdl alcsmiltem ethedawpfl lpvnlklvpg ykkvikkpmd fstireklss
     2161 gqypnletfa ldvrlvfdnc etfneddsdi graghnmrky fekkwtdtfk plcyedalaa
     2221 qpygaansyh qltspvpeas
//
LOCUS       XP_047300180            1242 aa            linear   PRI 20-MAR-2023
DEFINITION  insulin receptor substrate 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047300180
VERSION     XP_047300180.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444224.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1242
                     /product="insulin receptor substrate 1 isoform X1"
                     /calculated_mol_wt=131460
     Region          11..118
                     /region_name="PH_IRS"
                     /note="Insulin receptor substrate (IRS) pleckstrin
                     homology (PH) domain; cd01257"
                     /db_xref="CDD:269959"
     Region          160..263
                     /region_name="PTB_IRS"
                     /note="Insulin receptor substrate phosphotyrosine-binding
                     domain (PTBi); cd01204"
                     /db_xref="CDD:269915"
     Site            order(169,171,177)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:269915"
     Site            order(208..218,222,226..227,237,247,250,254,257..258,
                     260..261)
                     /site_type="other"
                     /note="phosphopeptide binding site [polypeptide binding]"
                     /db_xref="CDD:269915"
     CDS             1..1242
                     /gene="IRS1"
                     /gene_synonym="HIRS-1"
                     /coded_by="XM_047444224.1:1083..4811"
                     /db_xref="GeneID:3667"
                     /db_xref="HGNC:HGNC:6125"
                     /db_xref="MIM:147545"
ORIGIN      
        1 masppesdgf sdvrkvgylr kpksmhkrff vlraaseagg parleyyene kkwrhkssap
       61 krsiplescf ninkradskn khlvalytrd ehfaiaadse aeqdswyqal lqlhnrakgh
      121 hdgaaalgag ggggscsgss glgeagedls ygdvppgpaf kevwqvilkp kglgqtknli
      181 giyrlcltsk tisfvklnse aaavvlqlmn irrcghsenf ffievgrsav tgpgefwmqv
      241 ddsvvaqnmh etileamram sdefrprsks qsssncsnpi svplrrhhln npppsqvglt
      301 rrsrtesita tspasmvggk pgsfrvrass dgegtmsrpa svdgspvsps tnrthahrhr
      361 gsarlhppln hsrsipmpas rcspsatspv slsssstsgh gstsdclfpr rssasvsgsp
      421 sdggfissde ygsspcdfrs sfrsvtpdsl ghtppargee elsnyicmgg kgpstltapn
      481 ghyilsrggn ghrctpgtgl gtspalagde aasaadldnr frkrthsagt sptithqktp
      541 sqssvasiee ytemmpaypp gggsggrlpg hrhsafvptr sypeeglemh plerrgghhr
      601 pdsstlhtdd gympmspgva pvpsgrkgsg dympmspksv sapqqiinpi rrhpqrvdpn
      661 gymmmspsgg cspdigggps ssssssnavp sgtsygklwt ngvgghhshv lphpkppves
      721 sggkllpctg dymnmspvgd sntsspsdcy ygpedpqhkp vlsyyslprs fkhtqrpgep
      781 eegarhqhlr lstssgrlly aataddssss tssdslgggy cgarlepslp hphhqvlqph
      841 lprkvdtaaq tnsrlarptr lslgdpkast lprareqqqq qqpllhppep kspgeyvnie
      901 fgsdqsgyls gpvafhssps vrcpsqlqpa preeetgtee ymkmdlgpgr raawqestgv
      961 emgrlgpapp gaasicrptr avpssrgdym tmqmscprqs yvdtspaapv syadmrtgia
     1021 aeevslprat maaassssaa sasptgpqga aelaahssll ggpqgpggms aftrvnlspn
     1081 rnqsakvira dpqgcrrrhs setfsstpsa trvgntvpfg agaavggggg sssssedvkr
     1141 hssasfenvw lrpgelggap kepaklcgaa gglenglnyi dldlvkdfkq cpqectpepq
     1201 ppppppphqp lgsgessstr rssedlsaya sisfqkqped rq
//
LOCUS       XP_047301643             460 aa            linear   PRI 20-MAR-2023
DEFINITION  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_047301643
VERSION     XP_047301643.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445687.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..460
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..460
                     /product="D-2-hydroxyglutarate dehydrogenase,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=48700
     Region          69..>286
                     /region_name="GlcD"
                     /note="FAD/FMN-containing dehydrogenase [Energy production
                     and conversion]; COG0277"
                     /db_xref="CDD:223354"
     CDS             1..460
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /coded_by="XM_047445687.1:159..1541"
                     /db_xref="GeneID:728294"
                     /db_xref="HGNC:HGNC:28358"
                     /db_xref="MIM:609186"
ORIGIN      
        1 mlprrplawp awllrgapga agswgrpvgp larrgccsap gtpevpltre rypvrrlpfs
       61 tvskqdlaaf erivpggvvt dpealqapnv dwlrtlrgcs kvllrprtse evshilrhch
      121 ernlavnpqg gntgmvggsv pvfdeiilst armnrvlsfh svsgilvcqa gcvleelsry
      181 veerdfimpl dlgakgschi ggnvatnagg lrflrygslh gtvlglevvl adgtvldclt
      241 slrkdntgyd lkqlfigseg tlgiittvsi lcppkpravn vaflgflcsa liplqlqspv
      301 crppvvlgar gqpgcrillf alqvsdrshs plratptskp ggtgpvrmvl vslvlvgsvq
      361 lsrapvspgs cspaagatsd eallshflgi pahseqdaqs pppdpptppp pptpqpstrl
      421 qphpdmvlgs qalrcscvtq crclppasap vrpslwkill
//
LOCUS       XP_011510174             942 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 21B isoform X5 [Homo sapiens].
ACCESSION   XP_011510174
VERSION     XP_011510174.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011511872.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..942
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..942
                     /product="tetratricopeptide repeat protein 21B isoform X5"
                     /calculated_mol_wt=107007
     Region          48..820
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     Site            order(109,112..113,116..117,119,143,146..147,150..151,
                     153..154,179,182..183,186..187,190)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          109..136
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          141..173
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          178..205
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          212..239
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          323..353
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          358..382
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(496..497,500..501,503,527,530..531,534..535,
                     537..538,564,567..568,571..572,575)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          496..520
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          525..555
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          563..591
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          688..717
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          722..>926
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     Region          722..750
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(723,726..727,730..731,733,757,760..761,764..765,
                     767..768,790,793..794,797..798,801)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          755..785
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          790..817
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          831..859
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          884..911
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..942
                     /gene="TTC21B"
                     /gene_synonym="ATD4; CFAP60; FAP60; FLA17; IFT139;
                     IFT139B; JBTS11; Nbla10696; NPHP12; SRTD4; THM1"
                     /coded_by="XM_011511872.3:72..2900"
                     /db_xref="GeneID:79809"
                     /db_xref="HGNC:HGNC:25660"
                     /db_xref="MIM:612014"
ORIGIN      
        1 mdsqelktli nyycqeryfh hvllvasegi krygsdpvfr fyhaygtlme gktqealref
       61 eaiknkqdvs lcsllaliya hkmspnpdre ailesdarvk eqrkgageka lyhaglflwh
      121 igrhdkarey idrmikisdg skqghvlkaw lditrgkepy tkkalkyfee glqdgndtfa
      181 llgkaqclem rqnysgalet vnqiivnfps flpafvkkmk lqlalqdwdq tvetaqrlll
      241 qdsqnvealr mqalyyvcre gdiekastkl enlgntldam epqnaqlfyn itlafsrtcg
      301 rsqlilqkiq tllerafsln pqqsefatel gyqmilqgrv kealkwykta mtldetsvsa
      361 lvgfiqcqli egqlqdadqq leflneiqqs igksaeliyl havlamkknk rqeevinlln
      421 dvldthfsql eglplgiqyf eklnpdflle ivmeylsfcp mqpaspgqpl cpllrrcisv
      481 letvvrtvpg llqtvfliak vkylsgdiea afnnlqhcle hnpsyadahl llaqvylsqe
      541 kvklcsqsle lclsydfkvr dyplyhlika qsqkkmgeia daiktlhmam slpgmkriga
      601 stkskdrkte vdtshrlsif lelidvhrln geqheatkvl qdaihefsgt seevrvtian
      661 adlalaqgdi eralsilqnv taeqpyfiea rekmadiylk hrkdkmlyit cfreiaerma
      721 nprsflllgd aymnilepee aivayeqaln qnpkdgtlas kmgkalikth nysmaityye
      781 aalktgqkny lcydlaelll klkwydkaek vlqhalahep vnelsalmed grcqvllakv
      841 yskmeklgda italqqarel qarvlkrvqm eqpdavpaqk hlaaeicaei akhsvaqrdy
      901 ekaikfyrea lvhcetdnkc lmnlalcstd yvgtgtiipg tr
//
LOCUS       XP_047296288            1484 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1
            protein isoform X1 [Homo sapiens].
ACCESSION   XP_047296288
VERSION     XP_047296288.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440332.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1484
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..1484
                     /product="phosphatidylinositol
                     3,4,5-trisphosphate-dependent Rac exchanger 1 protein
                     isoform X1"
                     /calculated_mol_wt=166741
     Region          <12..63
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cl02571"
                     /db_xref="CDD:445839"
     Site            order(14..15,18..19,21..22,25..26,29..30,33,59,63)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          69..221
                     /region_name="PH_Collybistin_ASEF"
                     /note="Collybistin/APC-stimulated guanine nucleotide
                     exchange factor pleckstrin homology (PH) domain; cd01224"
                     /db_xref="CDD:269931"
     Region          239..319
                     /region_name="DEP"
                     /note="DEP domain, named after Dishevelled, Egl-10, and
                     Pleckstrin, where this domain was first discovered. The
                     function of this domain is still not clear, but it is
                     believed to be important for the membrane association of
                     the signaling proteins in which it is...; cl02442"
                     /db_xref="CDD:445785"
     Region          331..423
                     /region_name="DEP_2_P-Rex"
                     /note="DEP (Dishevelled, Egl-10, and Pleckstrin) domain 2
                     found in P-Rex-like proteins. The P-Rex family is the
                     guanine-nucleotide exchange factor (GEF) for the small
                     GTPase Rac that contains an N-terminal RhoGEF domain, two
                     DEP and PDZ domains. Rac-GEF...; cd04440"
                     /db_xref="CDD:239887"
     Region          452..528
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(459..462,464,509..510,513..514)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          546..598
                     /region_name="PDZ"
                     /note="PDZ domain, also called DHR (Dlg homologous region)
                     or GLGF (after a conserved sequence motif). Many PDZ
                     domains bind C-terminal polypeptides, though binding to
                     internal (non-C-terminal) polypeptides and even to lipids
                     has been demonstrated; cd00136"
                     /db_xref="CDD:238080"
     CDS             1..1484
                     /gene="PREX1"
                     /gene_synonym="P-REX1"
                     /coded_by="XM_047440332.1:546..5000"
                     /db_xref="GeneID:57580"
                     /db_xref="HGNC:HGNC:32594"
                     /db_xref="MIM:606905"
ORIGIN      
        1 mllggrkttd iplegyllsp iqrickypll lkelakrtpg khpdhpavqs alqamktvcs
       61 ninetkrqme klealeqlqs hiegwegsnl tdictqlllq gtllkisagn iqerafflfd
      121 nllvyckrks rvtgskkstk rtksingsly ifrgrintev mevenvedgt adyhsngytv
      181 tngwkihnta knkwfvcmak taeekqkwld aiirereqre slklgmerda yvmiaekgek
      241 lyhmmmnkkv nlikdrrrkl stvpkcflgn efvawlleig eiskteegvn lgqallengi
      301 ihhvsdkhqf kneqvmyrfr yddgtykars eledimskgv rlycrlhsly tpvikdrdyh
      361 lktyksvlpg sklvdwllaq gdcqtreeav algvglcnng fmhhvlekse frdesqyfrf
      421 hadeemegts sknkqlrndf klvenilakr llilpqeedy gfdieeknka vvvksvqrgs
      481 laevaglqvg rkiysinedl vflrpfseve silnqsfcsr rplrllvatk akeiikipdq
      541 pdtlcfqirg aappyvyavg rgseamaagl cagqcilkvn gsnvmndgap evlehfqafr
      601 srreealgly qwiyhtheda qearasqeas tedpsgeqaq eedqadsafp llslgprlsl
      661 cedspmvtlt vdnvhlehgv vyeyvstagv rchvlekive prgcfgltak ileafaands
      721 vfvencrrlm alssaivtmp hfefrnicdt klesigqria cyqefaaqlk srvsppfkqa
      781 plephplcgl dfcptnchin lmevsypktt psvgrsfsir fgrkpsligl dpeqghlnpm
      841 sytqhcittm aapswkclpa aegdpqgqgl hdgsfgpasg tlgqedrgls fllkqedrei
      901 qdaylqlftk ldvalkemkq yvtqinrlls titeptsggs cdaslaeeas slplvseese
      961 mdrsdhggik kvcfkvaeed qedsghdtms yrdsysecns nrdsvlsyts vrsnssylgs
     1021 demgsgdelp cdmripsdkq dklhgclehl fnqvdsinal lkgpvmsraf eetkhfpmnh
     1081 slqefkqkee ctirgrsliq isiqedpwnl pnsiktlvdn iqryvedgkn qlllallkct
     1141 dtelqlrrda ifcqalvaav ctfskqllaa lgyrynnnge yeessrdasr kwleqvaatg
     1201 vllhcqslls patvkeertm lediwvtlse ldnvtfsfkq ldenyvantn vfyhiegsrq
     1261 alkvifylds yhfsklpsrl eggaslrlht alftkvlenv eglpspgsqa aedlqqdina
     1321 qslekvqqyy rklrafyler snlptdastt avkidqlirp inaldelcrl mksfvhpkpg
     1381 aagsvgagli pisselcyrl gacqmvmcgt gmqrstlsvs leqaailars hgllpkcimq
     1441 atdimrkqgp rveilaknlr vkdqmpqgap rlyrlcqppv dgdl
//
LOCUS       XP_047296447             305 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-tocopherol transfer protein-like isoform X3 [Homo sapiens].
ACCESSION   XP_047296447
VERSION     XP_047296447.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440491.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..305
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..305
                     /product="alpha-tocopherol transfer protein-like isoform
                     X3"
                     /calculated_mol_wt=34126
     Region          56..102
                     /region_name="CRAL_TRIO_N"
                     /note="CRAL/TRIO, N-terminal domain; smart01100"
                     /db_xref="CDD:215024"
     Region          121..240
                     /region_name="SEC14"
                     /note="Sec14p-like lipid-binding domain. Found in
                     secretory proteins, such as S. cerevisiae
                     phosphatidylinositol transfer protein (Sec14p), and in
                     lipid regulated proteins such as RhoGAPs, RhoGEFs and
                     neurofibromin (NF1). SEC14 domain of Dbl is known to...;
                     cd00170"
                     /db_xref="CDD:238099"
     CDS             1..305
                     /gene="TTPAL"
                     /gene_synonym="C20orf121"
                     /coded_by="XM_047440491.1:571..1488"
                     /db_xref="GeneID:79183"
                     /db_xref="HGNC:HGNC:16114"
ORIGIN      
        1 mseesdslrt spsvaslsen elppppeppg yvcsltedlv tkareelqek pewrlrdvqa
       61 lrdmvrkeyp nlstslddaf llrflrarkf dydralqllv nyhscrrswp evfnnlkpsa
      121 lkdvlasgfl tvlphtdprg chvvcirpdr wipsnypite niraiyltle kliqseetqv
      181 ngiviladyk gvslskashf gpfiakkvig ilqfflhgsd lnslhtnlpr silpkeyggt
      241 ageldtatwn avllaseddf vkefcqpvpa cdsilgqtll pegltsdaqc ddslravksq
      301 lyscy
//
LOCUS       XP_016883803             423 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-secretase 2 isoform X1 [Homo sapiens].
ACCESSION   XP_016883803
VERSION     XP_016883803.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017028314.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..423
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..423
                     /product="beta-secretase 2 isoform X1"
                     /calculated_mol_wt=46435
     Region          8..355
                     /region_name="beta_secretase_like"
                     /note="Beta-secretase, aspartic-acid protease important in
                     the pathogenesis of Alzheimer's disease; cd05473"
                     /db_xref="CDD:133140"
     Site            order(15,17,54..56,93,111,178,208,210..212,287,300)
                     /site_type="active"
                     /note="inhibitor binding site [active]"
                     /db_xref="CDD:133140"
     Site            order(15..18,208..211)
                     /site_type="active"
                     /note="catalytic motif [active]"
                     /db_xref="CDD:133140"
     Site            order(15,208)
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:133140"
     Site            order(51..54,58..61)
                     /site_type="active"
                     /note="Active site flap [active]"
                     /db_xref="CDD:133140"
     CDS             1..423
                     /gene="BACE2"
                     /gene_synonym="AEPLC; ALP56; ASP1; ASP21; BAE2; CDA13;
                     CEAP1; DRAP"
                     /coded_by="XM_017028314.2:560..1831"
                     /db_xref="GeneID:25825"
                     /db_xref="HGNC:HGNC:934"
                     /db_xref="MIM:605668"
ORIGIN      
        1 maalhlykkl qilvdtgssn favagtphsy idtyfdters styrskgfdv tvkytqgswt
       61 gfvgedlvti pkgfntsflv niatifesen fflpgikwng ilglayatla kpsssletff
      121 dslvtqanip nvfsmqmcga glpvagsgtn ggslvlggie pslykgdiwy tpikeewyyq
      181 ieilkleigg qslnldcrey nadkaivdsg ttllrlpqkv fdavveavar aslipefsdg
      241 fwtgsqlacw tnsetpwsyf pkisiylrde nssrsfriti lpqlyiqpmm gaglnyecyr
      301 fgispstnal vigatvmegf yvifdraqkr vgfaaspcae iagaavseis gpfstedvas
      361 ncvpaqslse pilwivsyal msvcgaillv livllllpfr cqrrprdpev vndesslvrh
      421 rwk
//
LOCUS       XP_047303464            1069 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase Nek10 isoform X8 [Homo sapiens].
ACCESSION   XP_047303464
VERSION     XP_047303464.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447508.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1069
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1069
                     /product="serine/threonine-protein kinase Nek10 isoform
                     X8"
                     /calculated_mol_wt=121446
     Region          518..739
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(525..528,531,533,542,558..561,609,613..614,616,
                     626..627)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     CDS             1..1069
                     /gene="NEK10"
                     /gene_synonym="CILD44"
                     /coded_by="XM_047447508.1:197..3406"
                     /db_xref="GeneID:152110"
                     /db_xref="HGNC:HGNC:18592"
                     /db_xref="MIM:618726"
ORIGIN      
        1 mpdqdkkvkt tekstdkqqe itirdysdlk rlrcllnvqs skqqlpainf dsaqnsmtks
       61 epairagghr argqwheste avelenfsin yknernfskh pqrklfqeif talvknrlis
      121 rewvnrapsi hflrvliclr llmrdpcyqe ilhslggien laqymeivan eylgygeeqh
      181 tvdklvnmty ifqklaavkd qrewvttsga hktlvnllga rdtnvllgsl lalaslaesq
      241 ecrekiseln ivenllmilh eydllskrlt aellrllcae pqvkeqvkly egipvllsll
      301 hsdhlkllws ivwilvqvce dpetsveiri wggikqllhi lqgdrnfvsd hssigslssa
      361 naagriqqlh lsedlsprei qentfslqaa ccaaltelvl ndtnahqvvq engvytiakl
      421 ilpnkqknaa ksnllqcyaf ralrflfsme rnrplfkrlf ptdlfeifid ighyvrdisa
      481 yeelvsklnl lvedelkqia eniesinqnk aplkyignya ildhlgsgaf gcvyklyhpn
      541 ivryyktfle ndrlyivmel iegaplgehf sslkekhhhf teerlwkifi qlclalrylh
      601 kekrivhrdl tpnnimlgdk dkvtvtdfgl akqkqenskl tsvvgtilys cpevlksepy
      661 gekadvwavg cilyqmatls ppfystnmls latkiveavy epvpegiyse kvtdtisrcl
      721 tpdaearpdi vevssmisdv mmkyldnlst sqlslekkle rerrrtqryf meanrntvtc
      781 hhelavlshe tfekaslsss ssgaaslkse lsesadlppe gfqasygkde dracdeilsd
      841 dnfnlenaek dtysevddel disdnsssss ssplkestfn ilkrsfsasg gerqsqtrdf
      901 tggtgsrprp asagiavsqr kvrqisdpiq qiliqlhkii yitqlppalh hnlkrrvier
      961 fkkslfsqqs npcnlkseik klsqgspepi epnfftadyh llhrssggns lspndptglp
     1021 tsieleegit yeqmqtviee vleesgyynf tsnryhsypw gtknhptkr
//
LOCUS       XP_024309254             520 aa            linear   PRI 20-MAR-2023
DEFINITION  protein asteroid homolog 1 isoform X1 [Homo sapiens].
ACCESSION   XP_024309254
VERSION     XP_024309254.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453486.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..520
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..520
                     /product="protein asteroid homolog 1 isoform X1"
                     /calculated_mol_wt=58743
     Region          28..181
                     /region_name="PIN_SF"
                     /note="PIN (PilT N terminus) domain: Superfamily; cl28905"
                     /db_xref="CDD:452894"
     CDS             1..520
                     /gene="ASTE1"
                     /gene_synonym="HT001"
                     /coded_by="XM_024453486.2:241..1803"
                     /db_xref="GeneID:28990"
                     /db_xref="HGNC:HGNC:25021"
ORIGIN      
        1 mgirglmsfv edhsnefftd lklrdtkivi dgyalfhrlc fssnldlryg gdydsfadvv
       61 qkffeslfac nicpyvvldg gcdisdkklt tlkdrareki qmahslsvgg sgyvcpllir
      121 evfiqvlikl rvcfvqcfse adrdimtlan hwncpvlssd sdfcifdlkt gfcplnsfqw
      181 rnmntikgtq nyipakcfsl dafchhfsnm nkallplfav lcgndhvnlp imetflskar
      241 lplgatsskg rrhhrilgll nwlshfanpt ealdnvlkyl pkkdrenvke llccsmeeyq
      301 qsqvklqdff qcgtyvcpda lnlglpewvl valakgqlsp fisdalvlrr tilptqvenm
      361 qqpnahrisq pirqiiygll lnasphldkt swnalppqpl afseverink nirtsiidav
      421 elakdhsdls rltelslrrr qmllletlkv kqtilepipt slklpiavsc ywlqhtetka
      481 klhhlqslll tmlvgpliai inspgnvdpv prqaqclapr
//
LOCUS       XP_024309258             435 aa            linear   PRI 20-MAR-2023
DEFINITION  metabotropic glutamate receptor 2 isoform X7 [Homo sapiens].
ACCESSION   XP_024309258
VERSION     XP_024309258.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453490.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..435
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..435
                     /product="metabotropic glutamate receptor 2 isoform X7"
                     /calculated_mol_wt=47666
     Region          26..429
                     /region_name="Periplasmic_Binding_Protein_type1"
                     /note="Type 1 periplasmic binding fold superfamily;
                     cl10011"
                     /db_xref="CDD:447875"
     CDS             1..435
                     /gene="GRM2"
                     /gene_synonym="GLUR2; GPRC1B; mGlu2; MGLUR2"
                     /coded_by="XM_024453490.2:1917..3224"
                     /db_xref="GeneID:2912"
                     /db_xref="HGNC:HGNC:4594"
                     /db_xref="MIM:604099"
ORIGIN      
        1 mgsllallal lllwgavaeg pakkvltleg dlvlgglfpv hqkggpaedc gpvnehrgiq
       61 rleamlfald rinrdphllp gvrlgahild scskdthale qaldfvrasl srgadgsrhi
      121 cpdgsyathg daptaitgvi ggsysdvsiq vanllrlfqi pqisyastsa klsdksrydy
      181 fartvppdff qakamaeilr ffnwtyvstv asegdygetg ieafeleara rnicvatsek
      241 vgramsraaf egvvrallqk psarvavlft rsedarella asqrlnasft wvasdgwgal
      301 esvvagsega aegaitiela sypisdfasy fqsldpwnns rnpwfrefwe qrfrcsfrqr
      361 dcaahslrav pfeqeskimf vvnavyamah alhnmhralc pnttrlcdam rpvngrrlyk
      421 dfvlnvkfdg dlkvs
//
LOCUS       XP_047304985             465 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA-splicing endonuclease subunit Sen2 isoform X2 [Homo sapiens].
ACCESSION   XP_047304985
VERSION     XP_047304985.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449029.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..465
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..465
                     /product="tRNA-splicing endonuclease subunit Sen2 isoform
                     X2"
                     /calculated_mol_wt=53116
     Region          <283..329
                     /region_name="tRNA_int_endo_N"
                     /note="tRNA intron endonuclease, N-terminal domain;
                     pfam02778"
                     /db_xref="CDD:397071"
     Region          339..430
                     /region_name="tRNA-intron_lyase_C"
                     /note="catalytic C-terminal domain of the tRNA-intron
                     lyase; cd22363"
                     /db_xref="CDD:411767"
     Site            order(369,377,416)
                     /site_type="active"
                     /db_xref="CDD:411767"
     CDS             1..465
                     /gene="TSEN2"
                     /gene_synonym="PCH2B; SEN2; SEN2L"
                     /coded_by="XM_047449029.1:772..2169"
                     /db_xref="GeneID:80746"
                     /db_xref="HGNC:HGNC:28422"
                     /db_xref="MIM:608753"
ORIGIN      
        1 maeavfhapk rkrrvyetye splpipfgqd hgplkefkif raeminnnvi vrnaedieql
       61 ygkgyfgkgi lsrsrpsfti sdpklvakwk dmktnmpiit skryqhsvew aaelmrrqgq
      121 destvrrilk dytkplehpp vkrneeaqvh dklnsgmvsn megtaggerp svvngdsgks
      181 ggvgdprepl gclqegsgch pttesfeksv redasplphv ccckqdalil qrglhhedgs
      241 qhigllhpgd rgpdheyvlv eeaecamser eaapneelvq rnrlicrrnp yrifeylqls
      301 leeafflvya lgclsiyyek epltivklwk aftvvqptfr ttymayhyfr skgwvpkvgl
      361 kygtdlllyr kgppfyhasy sviielvddh fegslrrpls wkslaalsrv svnvskelml
      421 cylikpstmt dkemespecm krikvqevil srwvssrers dqddl
//
LOCUS       XP_005262997             247 aa            linear   PRI 20-MAR-2023
DEFINITION  RING finger protein 175 isoform X6 [Homo sapiens].
ACCESSION   XP_005262997
VERSION     XP_005262997.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005262940.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..247
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..247
                     /product="RING finger protein 175 isoform X6"
                     /calculated_mol_wt=28818
     Region          144..198
                     /region_name="RING-H2_RNF121-like"
                     /note="RING finger, H2 subclass, found in RING finger
                     proteins RNF121, RNF175 and similar proteins; cd16475"
                     /db_xref="CDD:438138"
     CDS             1..247
                     /gene="RNF175"
                     /coded_by="XM_005262940.5:13147..13890"
                     /db_xref="GeneID:285533"
                     /db_xref="HGNC:HGNC:27735"
ORIGIN      
        1 mlvtllqmwv vplyftikly wwrflsmwgm fsvitsyilf ratrkplsgr tprlvykwfl
       61 liyklsyafg vvgylaimft mcgfnlffki kardsmdfgi vslfyglyyg vmgrdfaeic
      121 sdymastigf ysvsrlptrs lsdnicavcg qkiiveldee glientyqls cnhvfhefci
      181 rgwcivgkkq tcpyckekvd lkrmisnpwe rthflygqil dwlrylvawq pvvigivqgi
      241 iyslgle
//
LOCUS       XP_011541551             780 aa            linear   PRI 20-MAR-2023
DEFINITION  A disintegrin and metalloproteinase with thrombospondin motifs 19
            isoform X10 [Homo sapiens].
ACCESSION   XP_011541551
VERSION     XP_011541551.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011543249.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..780
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..780
                     /product="A disintegrin and metalloproteinase with
                     thrombospondin motifs 19 isoform X10"
                     /calculated_mol_wt=87351
     Region          <6..100
                     /region_name="ZnMc"
                     /note="Zinc-dependent metalloprotease. This super-family
                     of metalloproteases contains two major branches, the
                     astacin-like proteases and the adamalysin/reprolysin-like
                     proteases. Both branches have wide phylogenetic
                     distribution, and contain sub-families, which...; cl00064"
                     /db_xref="CDD:444678"
     Site            order(40..41,44,50)
                     /site_type="active"
                     /db_xref="CDD:238124"
     Region          117..188
                     /region_name="ADAM_CR_2"
                     /note="ADAM cysteine-rich domain; pfam17771"
                     /db_xref="CDD:436031"
     Region          199..248
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          <285..351
                     /region_name="ADAM_CR_3"
                     /note="ADAM cysteine-rich domain; pfam19236"
                     /db_xref="CDD:437068"
     Region          353..473
                     /region_name="ADAM_spacer1"
                     /note="ADAM-TS Spacer 1; pfam05986"
                     /db_xref="CDD:428708"
     Region          492..549
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          553..609
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          613..655
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          664..716
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     CDS             1..780
                     /gene="ADAMTS19"
                     /gene_synonym="CVDP2"
                     /coded_by="XM_011543249.3:4992..7334"
                     /db_xref="GeneID:171019"
                     /db_xref="HGNC:HGNC:17111"
                     /db_xref="MIM:607513"
ORIGIN      
        1 mnlkchqtss iaylsgmcse krkciiaedn glnlaftiah emghnmginh dndhpscadg
       61 lhimsgewik gqnlgdvsws rcskedlerf lrskasncll qtnpqsvnsv mvpsklpgmt
      121 ytadeqcqil fgplasfcqe mqvkiqhvic tglwckvege kecrtkldpp mdgtdcdlgk
      181 wckagectsr tsapehlage wslwspcsrt csagissrer kcpgldsear dcngprkqyr
      241 icenppcpag lpgfrdwqcq aysvrtsspk hilqwqavld eekpcalfcs pvgkeqpill
      301 sekvmdgtsc gyqgldican grcqkvgcdg llgslaredh cgvcngngks ckiikgdfnh
      361 trgagyvevl vipagarrik vveekpahsy lgnlcyrhre dptlrdagkq sinsdwkieh
      421 sgafnlagtt vhyvrrglwe kisakgptta plhllvllfq dqnyglhyey tipsdplpen
      481 qsskapeplf mwthtswedc datcgggerk ttvsctkims knisivdnek ckyltkpepq
      541 irkcneqpcq trwmmtewtp csrtcgkgmq srqvactqql sngtlirare rdcigpkpas
      601 aqrcegqdcm tvweagvwse csvkcgkgir hrtvrctnpr kkcvlstrpr eaedcedysk
      661 cyvwrmgdws kcsitcgkgm qsrviqcmhk itgrhgnecf ssekpaayrp chlqpcneki
      721 nvntitsprl aaltfkclgd qwpvycrvir eknlcqdmrw yqrccetcrd fyaqklqqks
//
LOCUS       XP_006715666             886 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase LATS1 isoform X7 [Homo sapiens].
ACCESSION   XP_006715666
VERSION     XP_006715666.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006715603.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..886
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..886
                     /product="serine/threonine-protein kinase LATS1 isoform
                     X7"
                     /calculated_mol_wt=98541
     Region          103..143
                     /region_name="UBA_LATS1"
                     /note="UBA domain found in vertebrate
                     serine/threonine-protein kinase LATS1; cd14397"
                     /db_xref="CDD:270580"
     Region          <448..>596
                     /region_name="PRK10263"
                     /note="DNA translocase FtsK; Provisional"
                     /db_xref="CDD:236669"
     Region          629..704
                     /region_name="MobB_LATS1"
                     /note="Mob-binding domain found in large tumor suppressor
                     homolog 1 (LATS1) and similar proteins; cd21778"
                     /db_xref="CDD:439273"
     Site            order(639..640,642..644,646,651,654,657,661,686,690..691,
                     693..695,697)
                     /site_type="other"
                     /note="Mob binding site [polypeptide binding]"
                     /db_xref="CDD:439273"
     Region          703..>863
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(711..714,717,719,732,734,766,782..785,828,832..833,
                     835,845..846)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     CDS             1..886
                     /gene="LATS1"
                     /gene_synonym="WARTS; wts"
                     /coded_by="XM_006715603.4:394..3054"
                     /db_xref="GeneID:9113"
                     /db_xref="HGNC:HGNC:6514"
                     /db_xref="MIM:603473"
ORIGIN      
        1 mkrsekpegy rqmrpktfpa snytvssrqm lqeireslrn lskpsdaaka ehnmskmste
       61 dprqvrnppk fgthhkalqe irnsllpfan etnssrstse vnpqmlqdlq aagfdedmvi
      121 qalqktnnrs ieaaiefisk msyqdprreq maaaaarpin asmkpgnvqq svnrkqswkg
      181 skeslvpqrh gpplgesvay hsespnsqtd vgrplsgsgi safvqahpsn gqrvnppppp
      241 qvrsvtpppp prgqtppprg ttppppswep nsqtkrysgn meyvisrisp vppgawqegy
      301 pppplntspm nppnqgqrgi ssvpvgrqpi imqssskfnf psgrpgmqng tgqtdfmihq
      361 nvvpagtvnr qppppyplta angqspsalq tggsaapssy tngsipqsmm vpnrnshnme
      421 lynisvpglq tnwpqsssap aqsspssghe iptwqpnipv rsnsfnnplg nrashsansq
      481 psattvtait papiqqpvks mrvlkpelqt alapthpswi pqpiqtvqps pfpegtasnv
      541 tvmppvaeap nyqgppppyp khllhqnpsv ppyesiskps kedqpslpke deseksyenv
      601 dsgdkekkqi ttspitvrkn kkdeerresr iqsyspqafk ffmeqhvenv lkshqqrlhr
      661 kkqlenemmr vglsqdaqdq mrkmlcqkes nyirlkrakm dksmfvkikt lgigafgevc
      721 larkvdtkal yatktlrkkd vllrnqvahv kaerdilaea dnewvvrlyy sfqdkdnlyf
      781 vmdyipggdm msllirmgif peslarfyia eltcavesvh kmgfihrdik pdnilidrdg
      841 hikltdfglc tgfrwthdsk yyqsgpmlfl lhhtasprsl qalmev
//
LOCUS       XP_047277627             838 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF19A isoform X1 [Homo sapiens].
ACCESSION   XP_047277627
VERSION     XP_047277627.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421671.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..838
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..838
                     /product="E3 ubiquitin-protein ligase RNF19A isoform X1"
                     /calculated_mol_wt=90566
     Region          130..185
                     /region_name="RING-HC_RBR_RNF19A"
                     /note="RING finger, HC subclass, found in RING finger
                     protein 19A (RNF19A) and similar proteins; cd16775"
                     /db_xref="CDD:438431"
     Region          191..273
                     /region_name="BRcat_RBR_RNF19A"
                     /note="BRcat domain found in RING finger protein 19A
                     (RNF19A); cd20362"
                     /db_xref="CDD:439023"
     Region          295..363
                     /region_name="Rcat_RBR_RNF19"
                     /note="Rcat domain found in the RING finger protein 19
                     (RNF19) subfamily; cd20355"
                     /db_xref="CDD:439016"
     Region          <361..450
                     /region_name="AzlC"
                     /note="Predicted branched-chain amino acid permease
                     (azaleucine resistance) [Amino acid transport and
                     metabolism]; COG1296"
                     /db_xref="CDD:224215"
     CDS             1..838
                     /gene="RNF19A"
                     /gene_synonym="RNF19"
                     /coded_by="XM_047421671.1:479..2995"
                     /db_xref="GeneID:25897"
                     /db_xref="HGNC:HGNC:13432"
                     /db_xref="MIM:607119"
ORIGIN      
        1 mqeqeigfis kyneglcvnt dpvsiltsil dmslhrqmgs drdlqssass vslpsvkkap
       61 kkrrisigsl frrkkdnkrk srelnggvdg iasiesihse mctdknsifs tntssdnglt
      121 siskqigdfi ecplcllrhs kdrfpdimtc hhrscvdclr qylrieises rvniscpect
      181 erfnphdirl ilsddvlmek yeefmlrrwl vadpdcrwcp apdcgyavia fgcascpklt
      241 cgregcgtef cyhckqiwhp nqtcdaarqe raqslrlrti rsssisysqe sgaaaddikp
      301 cprcaayiik mndgscnhmt cavcgcefcw lcmkeisdlh ylspsgctfw gkkpwsrkkk
      361 ilwqlgtlvg apvgialiag iaipamiigi pvyvgrkihn ryegkdvskh krnlaiaggv
      421 tlsvivspvv aavtvgigvp imlayvygvv pislcrsggc gvsagngkgv riefddendi
      481 nvggtntavd ttsvaearhn psigegsvgg ltgslsasgs hmdrigaird nlsetastma
      541 lagasitgsl sgsamvncfn rlevqadvqk eryslsgesg tvslgtvsdn astkamagsi
      601 lnsyipldke gnsmevqvdi eskpskfrhn sgsssvddgs atrshaggss sglpegkssa
      661 tkwskeatag kksksgklrk kgnmkinetr edmdaqlleq qstnssefea pslsdsmpsv
      721 adshsshfse fscsdlesmk tscshgssdy htrfatvnil pevendrlen sphqcsisvv
      781 tqtascsevs qlnhiaeehg nngikpnvdl yfgdalketn nnhshqtmel kvaiqtei
//
LOCUS       XP_011542978             604 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-(1,3)-fucosyltransferase 10 isoform X1 [Homo sapiens].
ACCESSION   XP_011542978
VERSION     XP_011542978.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544676.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..604
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..604
                     /product="alpha-(1,3)-fucosyltransferase 10 isoform X1"
                     /calculated_mol_wt=70003
     Region          125..219
                     /region_name="Glyco_tran_10_N"
                     /note="Fucosyltransferase, N-terminal; pfam17039"
                     /db_xref="CDD:435707"
     Region          243..>396
                     /region_name="Glyco_transf_10"
                     /note="Glycosyltransferase family 10 (fucosyltransferase)
                     C-term; pfam00852"
                     /db_xref="CDD:425907"
     CDS             1..604
                     /gene="FUT10"
                     /gene_synonym="FUCTX"
                     /coded_by="XM_011544676.4:357..2171"
                     /db_xref="GeneID:84750"
                     /db_xref="HGNC:HGNC:19234"
                     /db_xref="MIM:616931"
ORIGIN      
        1 mvriqrrkll asclcvtatv fllvtlqald tvenlmkvtg ppqgvtdsmq cfndqrplsn
       61 trssehikev mvelgkferk efkssslqdg htkmeeapth lnsflkkegl tfnrkrkwel
      121 dsypimlwws pltgetgrlg qcgadacfft inrtylhhhm tkaflfygtd fnidslplpr
      181 kahhdwavfh eespknnykl fhkpvitlfn ytatfsrhsh lplttqyles ievlkslryl
      241 vplqsknklr krlaplvyvq sdcdppsdrd syvrelmtyi evdsygeclr nkdlpqqlkn
      301 pasmdadgfy riiaqykfil afenavcddy itekfwrplk lgvvpvyygs psitdwlpsn
      361 ksailvsefs hprelasyir rldsddrlye ayvewklkge isnqrlltal rerkwgvqdv
      421 nqdnyidafe cmvctkvwan irlqekglpp krweaedthl scpeptvfaf splrtpplss
      481 lremwissfe qskkeaqalr lwrihhqtrk qqpglqsqtl hspdyggfat rlgsnslgsr
      541 vrrythqtme dsppdweata wapesdttlt rlwtihhqtg kqqpglqnaq mrrglmklrw
      601 slgp
//
LOCUS       XP_047298186             242 aa            linear   PRI 20-MAR-2023
DEFINITION  gem-associated protein 8 isoform X2 [Homo sapiens].
ACCESSION   XP_047298186
VERSION     XP_047298186.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442230.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..242
                     /product="gem-associated protein 8 isoform X2"
                     /calculated_mol_wt=28506
     Region          14..242
                     /region_name="GEMIN8"
                     /note="Gemini of Cajal bodies-associated protein 8;
                     pfam15348"
                     /db_xref="CDD:405933"
     CDS             1..242
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /coded_by="XM_047442230.1:221..949"
                     /db_xref="GeneID:54960"
                     /db_xref="HGNC:HGNC:26044"
                     /db_xref="MIM:300962"
ORIGIN      
        1 maavkastsk atrpwyshpv yarywqhyhq amawmqshhn ayrkavescf nlpwylpsal
       61 lpqssydnea aypqsfydhh vawqdypcss shfrrsgqhp ryssriqast kedqalskee
      121 emetesdaev ecdlsnmeit eelrqyfaet erhreerrrq qqldaerlds yvnadhdlyc
      181 ntrrsveapt erpgerrqae mkrlygdsaa kiqameaavq lsfdkhcdrk qpkywpvipl
      241 kf
//
LOCUS       XP_054184502            2110 aa            linear   PRI 20-MAR-2023
DEFINITION  mediator of DNA damage checkpoint protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054184502
VERSION     XP_054184502.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328527.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167244.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2110
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..2110
                     /product="mediator of DNA damage checkpoint protein 1
                     isoform X1"
                     /calculated_mol_wt=228974
     CDS             1..2110
                     /gene="MDC1"
                     /gene_synonym="NFBD1"
                     /coded_by="XM_054328527.1:180..6512"
                     /db_xref="GeneID:9656"
                     /db_xref="HGNC:HGNC:21163"
                     /db_xref="MIM:607593"
ORIGIN      
        1 mghptfptcq qfpsrvayfq imedtqaidw dveeeeeteq sseslrcnve pvgrlhifsg
       61 ahgpekdfpl hlgknvvgrm pdcsvalpfp siskqhaeie ilawdkapil rdcgslngtq
      121 ilrppkvlsp gvshrlrdqe lilfadllcq yhrldvslpf vsrgpltvee tprvqgetqp
      181 qrlllaedse eevdflserr mvkksrttss svivpesdee ghspvlgglg ppfafnlnsd
      241 tdveegqqpa teeassaarr gatveakqse aevvteiqle kdqplvkerd ndtkvkrgag
      301 ngvvpagvil ersqppgeds dtdvdddsrp pgrpaevhle raqpfgfids dtdaeeerip
      361 atpvvipmkk rkifhgvgtr gpgapglahl qesqagsdtd veegkapqav pleksqasmv
      421 insdtddeee vsaaltlahl kesqpaiwnr daeedmpqrv vllqrsqttt erdsdtdvee
      481 eelpvenrea vlkdhtkira lvrahsekdq ppfgdsddsv eadksspgih lersqasttv
      541 dintqvekev ppgsaiihik khqvsvegtn qtdvkavggp akllvvslee awplhgdcet
      601 daeegtslta svvadvrksq lpaegdagae waaavlkqer ahevgaqggp pvaqveqdlp
      661 isrenltdlv vdtdtlgest qpqregaqvp tgrereqhvg gtkdsednyg dsedldlqat
      721 qcflenqgle avqsmedept qafmltppqe lgpshcsfqt tgtldepwev latqpfclre
      781 sedsetqpfd thleaygpcl sppraipgdq hpespvhtep mgiqgrgrqt vdkvmgipke
      841 taervgperg pleretekll perqtdvtge eeltkgkqdr eqkqllardt qrqesdknge
      901 sasperdres lkveietsee iqekqvqkqt lpskaferev erpvanrecd paeleekvpk
      961 vilerdtqrg epeggsqdqk gqassptpep gvgagdlpgp tsapvpsgsq sggrgspvsp
     1021 rrhqkgllnc kmppaekasr iraaekvsrg dqespdaclp ptvpeapapp qkplnsqsqk
     1081 hlapppllsp llpsikptvr ktrqdgsqea peaplssele pfhpkpkirt rkssrmtpfp
     1141 atsaapephp ststaqpvtp kptsqatrsr tnrssvktpe pvvptapelq pststdqpvt
     1201 septsqvtrg rksrssvktp etvvptalel qpststdrpv tseptsqatr grknrssvkt
     1261 pepvvptape lqpststdqp vtseptyqat rgrknrssvk tpepvvptap elrpststdr
     1321 pvtpkptsrt trsrtnmssv ktpetvvpta pelqiststd qpvtpkptsr ttrsrtnmss
     1381 vknpestvpi apelppstst eqpvtpepts ratrgrknrs sgktpetlvp tapklepsts
     1441 tdqpvtpept sqatrgrtnr ssvktpetvv ptapelqpst stdqpvtpep tsqatrgrtd
     1501 rssvktpetv vptapelqas astdqpvtse ptsrttrgrk nrssvktpet vvpaapelqp
     1561 ststdqpvtp eptsratrgr tnrssvktpe sivpiapelq pstsrnqlvt peptsratrc
     1621 rtnrssvktp epvvptapep hpttstdqpv tpkltsratr rktnrssvkt pkpvepaasd
     1681 lepftptdqs vtpeaiaqgg qsktlrsstv rampvpttpe fqspvttdqp ispepitqps
     1741 cikrqraagn pgslaapidh kpcsaplepk sqasrnqrwg avraaeslta ipepaspqll
     1801 etpihasqiq kvepagrsrf tpelqpkasq srkrslatmd spphqkqpqr gevsqktvii
     1861 keeeedtaek pgkeedvvtp kpgkrkrdqa eeepnripsr slrrtklnqe stapkvlftg
     1921 vvdargerav lalggslags aaeashlvtd rirrtvkflc algrgipils ldwlhqsrka
     1981 gfflppdeyv vtdpeqeknf gfslqdalsr arerrllegy eiyvtpgvqp pppqmgeiis
     2041 ccggtylpsm prsykpqrvv itcpqdfphc siplrvglpl lspeflltgv lkqeakpeaf
     2101 vlsplemsst
//
LOCUS       XP_054185350             776 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-XIX isoform X19 [Homo sapiens].
ACCESSION   XP_054185350
VERSION     XP_054185350.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329375.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187614.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..776
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     Protein         1..776
                     /product="unconventional myosin-XIX isoform X19"
                     /calculated_mol_wt=86916
     CDS             1..776
                     /gene="MYO19"
                     /gene_synonym="MYOHD1"
                     /coded_by="XM_054329375.1:404..2734"
                     /db_xref="GeneID:80179"
                     /db_xref="HGNC:HGNC:26234"
                     /db_xref="MIM:617379"
ORIGIN      
        1 mlqqvnghnp gsdgqareyl redlqeflgg evllyklddl trvnpvtlet vlrclqarym
       61 adtfytnagc tlvalnpfkp vpqlyspelm reyhaapqpq qcghsesasa tacpigagri
      121 lnheelttgq kklkphvftv geqtyrnvks liepvnqsiv vsgesgagkt wtsrclmkfy
      181 avvatspasw eshkiaerie qrilnsnpvm eafgnactlr nnnssrfgkf iqlqlnraqq
      241 mtgaavqtyl lektrvacqa ssernfhify qickgasede rlqwhlpega afswlpnper
      301 sleedcfevt reamlhlgid tptqnnifkt apeqqegidr mawqsrkggh frevamqwkv
      361 tltsrwgllr hcqvlagllh lgniqfaase deaqpcqpmd dakcedsvrt aasllglped
      421 vllemvqirt iragrqqqvf rkpcaraecd trrdclakli yarlfdwlvs vinssicadt
      481 dswttfigll dvygfesfpd nsleqlciny aneklqqhfv ahylraqqee yaveglewsf
      541 inyqdnqpcl dliegspisi cslineecrl nrpssaaqlq trietalags pclghnklsr
      601 epsfivvhya gpvryhtagl veknkdpipp eltrllqqsq dpllmglfpt npkektqeep
      661 pgqsrapvlt vvskfkasle qllqvlhstt phyircikpn sqgqaqtflq eevlsqleac
      721 glvetihisa agfpirvshr nfverykllr rlhpctssgp dspypakglp allapg
//
LOCUS       XP_054186083             802 aa            linear   PRI 20-MAR-2023
DEFINITION  microtubule-associated protein tau isoform X4 [Homo sapiens].
ACCESSION   XP_054186083
VERSION     XP_054186083.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330108.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187663.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..802
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31-21.32"
     Protein         1..802
                     /product="microtubule-associated protein tau isoform X4"
                     /calculated_mol_wt=83506
     CDS             1..802
                     /gene="MAPT"
                     /gene_synonym="DDPAC; FTDP-17; MAPTL; MSTD; MTBT1; MTBT2;
                     PPND; PPP1R103; TAU; tau-40; Tau-PHF6"
                     /coded_by="XM_054330108.1:151..2559"
                     /db_xref="GeneID:4137"
                     /db_xref="HGNC:HGNC:6893"
                     /db_xref="MIM:157140"
ORIGIN      
        1 maeprqefev medhagtygl gdrkdqggyt mhqdqegdtd aglkesplqt ptedgseepg
       61 setsdakstp taeaeeagig dtpsledeaa ghvtqeelrv pgrqrkaper planeisahv
      121 qpgpcgeasg vsgpclgeke peapvpltas lpqhrpvcpa ppptggpqep slewgqkggd
      181 wakkgpafpk pattaylhte pesgkvvqeg flrepgppgl shqlmsgmpg apllpegpre
      241 atrqpsgtgp edteggrhap ellkhqllgd lhqegpplkg aggkerpgsk eevdedrdvd
      301 esspqdspps kaspaqdgrp pqtaareats ipgfpaegai plpvdflskv steipasepd
      361 gpsvgrakgq dapleftfhv eitpnvqkeq ahseehlgra afpgapgegp eargpslged
      421 tkeadlpeps ekqpaaaprg kpvsrvpqlk armvskskdg tgsddkkakt strssaktlk
      481 nrpclspkhp tpgssdpliq psspavcpep psspkhvssv tsrtgssgak emklkgadgk
      541 tkiatprgaa ppgqkgqana tripaktppa pktppssgep pksgdrsgys spgspgtpgs
      601 rsrtpslptp ptrepkkvav vrtppkspss aksrlqtapv pmpdlknvks kigstenlkh
      661 qpgggkvqiv ykpvdlskvt skcgslgnih hkpgggqvev ksekldfkdr vqskigsldn
      721 ithvpgggnk kiethkltfr enakaktdhg aeivykspvv sgdtsprhls nvsstgsidm
      781 vdspqlatla devsaslakq gl
//
LOCUS       XP_054186528             699 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 311 isoform X1 [Homo sapiens].
ACCESSION   XP_054186528
VERSION     XP_054186528.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330553.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167246.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..699
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..699
                     /product="zinc finger protein 311 isoform X1"
                     /calculated_mol_wt=79938
     CDS             1..699
                     /gene="ZNF311"
                     /gene_synonym="zf31"
                     /coded_by="XM_054330553.1:569..2668"
                     /db_xref="GeneID:282890"
                     /db_xref="HGNC:HGNC:13847"
ORIGIN      
        1 mqevrrggsv ihhkeeegev sprkkessvv lldessgpps qllwtrqdtq lpqesallpa
       61 pypaftkdgs qgnlpqadit lmsqaqdsrs ilfqesvtfe dvavnftnre wqcltyaqrh
      121 lykdvmleny gnmvslgfpf pkpplishle revdpcvqdp qdreslscsy pvsadkmwpe
      181 nekassqqei fengeaywmk fnsllkvdsr dpkvrevcvq dvklenqwet sireklreek
      241 egseevtckk gknqkvlskn lnpnskhsqc nkvliaqklh ecarcgknfs whsdlilheq
      301 ihsgekphvc necgkafktr nqlsmhriih tgekpfnctq cgkafnsrsa lcrhkkthsg
      361 ekphecrdcg kafktrnrlc mhqlihtgek pykcnccgka fqfkhsltih grihtgekpy
      421 eceecgkafs gssdltkhir ihtgerpyec skcgrafsrs sdlskhkrih trekhygcpq
      481 cgkdfsikae ltkhrrihte ekryrceecg kafrhnckrr aherehtgek pyqcrdcgkt
      541 fqdkhcltih qrihtgekpy kclecgkafs gksnltnhrr ihtgekphkc evcgmafhhs
      601 svlrqhkrih tgekpytcse cgtsfrqgsa lighkrvhtg ekpyeceecg kafrvssnlt
      661 ghkkrkhqvw stheldgsrk slspvtvsqt svvsiltsa
//
LOCUS       XP_054187299             219 aa            linear   PRI 20-MAR-2023
DEFINITION  HLA class II histocompatibility antigen, DQ beta 2 chain isoform X3
            [Homo sapiens].
ACCESSION   XP_054187299
VERSION     XP_054187299.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331324.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167249.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..219
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..219
                     /product="HLA class II histocompatibility antigen, DQ beta
                     2 chain isoform X3"
                     /calculated_mol_wt=25171
     CDS             1..219
                     /gene="HLA-DQB2"
                     /gene_synonym="DQB2; HLA-DQB1; HLA-DXB"
                     /coded_by="XM_054331324.1:63..722"
                     /db_xref="GeneID:3120"
                     /db_xref="HGNC:HGNC:4945"
                     /db_xref="MIM:615161"
ORIGIN      
        1 malqipggfw aaavtvmlvm lstpvaeard fpkdflvqfk gmcyftngte rvrgvaryiy
       61 nreeygrfds dvgefqavte lgrsiedwnn ykdfleqera avdkvcrhny eaelrttlqr
      121 qveptvtisp srtealnhhn llvcsvtdfy paqikvrwfr ndqeetagvv stslirngdw
      181 tfqilvmlei tpqrgdiytc qvehpslqsp itvewrllh
//
LOCUS       XP_047299325             288 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-specific Y-encoded protein 3 isoform X3 [Homo sapiens].
ACCESSION   XP_047299325
VERSION     XP_047299325.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443369.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791821) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..288
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yp11.2"
     Protein         1..288
                     /product="testis-specific Y-encoded protein 3 isoform X3"
                     /calculated_mol_wt=31734
     Region          126..>191
                     /region_name="NAP"
                     /note="Nucleosome assembly protein (NAP); cl08298"
                     /db_xref="CDD:447601"
     CDS             1..288
                     /gene="LOC124905621"
                     /coded_by="XM_047443369.1:18..884"
                     /db_xref="GeneID:124905621"
ORIGIN      
        1 mrpegsltyr vperlrqgfc gvgraaqalv casakegtaf rmeavqegaa gveseqaalg
       61 eeavlllddi maevevvaee eglverreea qraqqavpgp gpmtpesale ellavqvele
      121 pvnaqarkaf srqrekmerr rkphldrrga viqsvpgfwa nvianhpqms alitdededm
      181 lsymvsleve eekhpvhlck imlffrsnpy fqnkvitkey lvnitgllip lqlsgirimk
      241 wrpiaadttt aaltsstgsl tttsqdltrl lrsyvrtcga ipcnttrg
//
LOCUS       XP_054190766             386 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 24 isoform X8 [Homo sapiens].
ACCESSION   XP_054190766
VERSION     XP_054190766.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334791.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 50% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..386
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..386
                     /product="tetratricopeptide repeat protein 24 isoform X8"
                     /calculated_mol_wt=42127
     CDS             1..386
                     /gene="TTC24"
                     /coded_by="XM_054334791.1:5..1165"
                     /db_xref="GeneID:164118"
                     /db_xref="HGNC:HGNC:32348"
ORIGIN      
        1 msspnpedvp rrpepepsss nkkkkkrkwl rqeasiqalt raghgalqag qnhealnnfq
       61 rafllaskap qtrdtpvlqa cafnlgaayv etgdpargle lllrahpeek aqgrrhgdqc
      121 fnvalayhal gelpqalawy hralghyqpq gdqgeawakm gacyqalgqp elaahclqea
      181 sqayaqerql raaalalgaa agcmlksgrh rvgevvqvle ksrrlaerst grrllghlyn
      241 dlglgysqlq lfplaveafl qalplcwvpg eqatvlrnlg mahnalgnyq earefhqkaa
      301 dlhgsvgqrw eqgrsfgsla falsqlgdhk aardnylhal qaardsdfgs gktpgsrwgq
      361 pgggdpskgr kqhsrcpaqi fqwvgr
//
LOCUS       XP_054191237             677 aa            linear   PRI 20-MAR-2023
DEFINITION  WD and tetratricopeptide repeats protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054191237
VERSION     XP_054191237.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335262.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..677
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..677
                     /product="WD and tetratricopeptide repeats protein 1
                     isoform X1"
                     /calculated_mol_wt=75789
     CDS             1..677
                     /gene="WDTC1"
                     /gene_synonym="ADP; DCAF9"
                     /coded_by="XM_054335262.1:173..2206"
                     /db_xref="GeneID:23038"
                     /db_xref="HGNC:HGNC:29175"
                     /db_xref="MIM:619763"
ORIGIN      
        1 makvnitrdl irrqikerga lsferryhvt dpfirrlgle aelqghsgcv nclewnekgd
       61 llasgsddqh tivwdplhhk kllsmhtght anifsvkflp hagdrilitg aadskvhvhd
      121 ltvketihmf gdhtnrvkri atapmwpntf wsaaedglir qydlrenskh sevlidltey
      181 cgqlveakcl tvnpqdnncl avgasgpfvr lydirmihnh rksmkqspsa gvhtfcdrqk
      241 plpdgaaqyy vaghlpvklp dynnrlrvlv atyvtfspng tellvnmgge qvylfdltyk
      301 qrpytfllpr kchssgevqn gkmstngvsn gvsnglhlhs ngfrlpesrg hvspqvelpp
      361 ylervkqqan eafacqqwtq aiqlyskavq raphnamlyg nraaaymkrk wdgdhydalr
      421 dclkaislnp chlkahfrla rclfelkyva ealeclddfk gkfpeqahss acdalgrdit
      481 aalfskndge ekkgpgggap vrlrstsrkd sisedemvlr ersydyqfry cghcntttdi
      541 keanffgsna qyivsgsddg sffiwekett nlvrvlqgde sivnclqphp sycflatsgi
      601 dpvvrlwnpr pesedltgrv vedmegasqa nqrrmnadpl evmllnmgyr itglssggag
      661 asddedsseg qvqcrps
//
LOCUS       XP_054192014             223 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF115 isoform X2 [Homo sapiens].
ACCESSION   XP_054192014
VERSION     XP_054192014.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336039.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..223
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..223
                     /product="E3 ubiquitin-protein ligase RNF115 isoform X2"
                     /calculated_mol_wt=24971
     CDS             1..223
                     /gene="RNF115"
                     /gene_synonym="BCA2; RABRING7; ZFP364; ZNF364"
                     /coded_by="XM_054336039.1:312..983"
                     /db_xref="GeneID:27246"
                     /db_xref="HGNC:HGNC:18154"
                     /db_xref="MIM:619535"
ORIGIN      
        1 mffqdfrpfl ssspldqdnr anerghqtht dfwgarpprl plgrryrsrg ssrpdrspai
       61 egilqhifag ffansaipgs phpfswsgml hsnpgdyawg qtgldaivtq llgqlentgp
      121 ppadkekits lptvtvtqeq vdmglecpvc kedytveeev rqlpcnhffh sscivpwlel
      181 hdtcpvcrks lngedstrqs qsteasasnr fsndsqlhdr wtf
//
LOCUS       XP_054193360            1243 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 10-like protein isoform X2
            [Homo sapiens].
ACCESSION   XP_054193360
VERSION     XP_054193360.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337385.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1243
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1243
                     /product="rho guanine nucleotide exchange factor 10-like
                     protein isoform X2"
                     /calculated_mol_wt=135938
     CDS             1..1243
                     /gene="ARHGEF10L"
                     /gene_synonym="GrinchGEF"
                     /coded_by="XM_054337385.1:297..4028"
                     /db_xref="GeneID:55160"
                     /db_xref="HGNC:HGNC:25540"
                     /db_xref="MIM:612494"
ORIGIN      
        1 massnpppqp aigdqlvpgv pgpsseaedd pgeafefdds ddeedtsaal gvpslaperd
       61 tdpplihlds ipvtdpdpaa appgtgvpaw vsngdaadaa fsgarhsswk rkssrridrf
      121 tfpaleedvi yddvpcespd ahqpgaernl lyedahraga prqaedlgws ssefesysed
      181 sgeeakpeve vepakhrvsf qpkmtqlmka aksgtkdgle ktrmavmrkv sflhrkdvld
      241 fpgdseeedm gllevsvsdi kppapelgpm peglspqqvv rrhilgsivq segsyveslk
      301 rilqdyrnpl memepkalsa rkcqvvffrv keilhchsmf qialssrvae wdstekigdl
      361 fvasfsksmv ldvysdyvnn ftsamsiikk acltkpafle flkrrqvcsp drvtlyglmv
      421 kpiqrfpqfi lllqdmlknt prghpdrlsl qlalteletl aeklneqkrl adqvaeiqql
      481 tksvsdrssl nklltsgqrq lllcetltet vygdrgqlik skerrvflln dmlvcaninf
      541 kpanhrgqle isslvplgpk yvvkwntalp qvqvvevgqd ggtydkdnvl iqhsgakkas
      601 asgqaqnkvy lgpprlfqel qdlqkdlavv eqitllistl hgtyqnlnmt vaqdwclalq
      661 rlmrvkeeei hsankcrlrl llpgkpdksg rpisfmvvfi tpnplskisw vnrlhlakig
      721 lreenqpgwl cpdedkkska pfwcpilacc ipafssrals lqlgalvhsp vncpllgfsa
      781 vstslpqgyl wvgggqegag gqveifslnr psprtvksfp laapvlcmey ipeleeeaes
      841 rdesptvadp satvhpticl glqdgsilly ssvdtgtqcl vscrspglqp vlclrhspfh
      901 llaglqdgtl aayprtsggv lwdlesppvc ltvgpgpvrt llsledavwa scgprvtvle
      961 attlqpqqsf eahqdeavsv thmvkagsgv wmafssgtsi rlfhtetleh lqeiniatrt
     1021 tfllpgqkhl cvtsllicqg llwvgtdqgv ivllpvprle gipkitgkgm vslnghcgpv
     1081 aflavatsil apdilrsdqe eaegpraeed kpdgqahepm pdshvgrelt rkkgillqyr
     1141 lrstahlpgp llsmrepapa dgaalehsee dgsiyemadd pdvwvrsrpc ardahrkeic
     1201 svaiisggqg yrnfgsalgs sgrqapcget dstlliwqvp lml
//
LOCUS       XP_054195926             757 aa            linear   PRI 20-MAR-2023
DEFINITION  mitofusin-2 isoform X1 [Homo sapiens].
ACCESSION   XP_054195926
VERSION     XP_054195926.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339951.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..757
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..757
                     /product="mitofusin-2 isoform X1"
                     /calculated_mol_wt=86271
     CDS             1..757
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF"
                     /coded_by="XM_054339951.1:259..2532"
                     /db_xref="GeneID:9927"
                     /db_xref="HGNC:HGNC:16877"
                     /db_xref="MIM:608507"
ORIGIN      
        1 msllfsrcns ivtvkknkrh maevnasplk hfvtakkkin gifeqlgayi qesatfledt
       61 yrnaeldpvt teeqvldvkg ylskvrgise vlarrhmkva ffgrtsngks tvinamlwdk
      121 vlpsgightt ncflrvegtd gheafllteg seekrsaktv nqlahalhqd kqlhagslvs
      181 vmwpnskcpl lkddlvlmds pgidvtteld swidkfclda dvfvlvanse stlmqtekhf
      241 fhkvserlsr pnifilnnrw dasasepeym eevrrqhmer ctsflvdelg vvdrsqagdr
      301 iffvsakevl nariqkaqgm pegggalaeg fqvrmfefqn ferrfeecis qsavktkfeq
      361 htvrakqiae avrlimdslh maareqqvyc eemreerqdr lkfidkqlel laqdyklrik
      421 qiteeverqv stamaeeirr lsvlvddyqm dfhpspvvlk vyknelhrhi eeglgrnmsd
      481 rcstaitnsl qtmqqdmidg lkpllpvsvr sqidmlvprq cfslnydlnc dklcadfqed
      541 iefhfslgwt mlvnrflgpk nsrralmgyn dqvqrpiplt panpsmpplp qgsltqeefm
      601 vsmvtglasl tsrtsmgilv vggvvwkavg wrlialsfgl ygllyvyerl twttkakera
      661 fkrqfvehas eklqlvisyt gsncshqvqq elsgtfahlc qqvdvtrenl eqeiaamnkk
      721 ievldslqsk akllrnkagw ldselnmfth qylqpsr
//
LOCUS       XP_054220827             150 aa            linear   PRI 20-MAR-2023
DEFINITION  cAMP-responsive element modulator isoform X14 [Homo sapiens].
ACCESSION   XP_054220827
VERSION     XP_054220827.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364852.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..150
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..150
                     /product="cAMP-responsive element modulator isoform X14"
                     /calculated_mol_wt=16297
     CDS             1..150
                     /gene="CREM"
                     /gene_synonym="CREM-2; hCREM-2; ICER"
                     /coded_by="XM_054364852.1:191..643"
                     /db_xref="GeneID:1390"
                     /db_xref="HGNC:HGNC:2352"
                     /db_xref="MIM:123812"
ORIGIN      
        1 mtnsgapppg ativqyaaqs adgtqqffvp gsqvvvqdee telapshmaa atgdmptyqi
       61 raptaalpqg vvmaaspgsl hspqqlaeea trkrelrlmk nreaakecrr rkkeyvkcle
      121 srvavlevqn kklieeletl kdicspktdy
//
LOCUS       XP_054222964             562 aa            linear   PRI 20-MAR-2023
DEFINITION  pyridine nucleotide-disulfide oxidoreductase domain-containing
            protein 2 isoform X7 [Homo sapiens].
ACCESSION   XP_054222964
VERSION     XP_054222964.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366989.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 5% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..562
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..562
                     /product="pyridine nucleotide-disulfide oxidoreductase
                     domain-containing protein 2 isoform X7"
                     /calculated_mol_wt=61402
     CDS             1..562
                     /gene="PYROXD2"
                     /gene_synonym="C10orf33; FP3420; YUEF"
                     /coded_by="XM_054366989.1:1509..3197"
                     /db_xref="GeneID:84795"
                     /db_xref="HGNC:HGNC:23517"
                     /db_xref="MIM:617889"
ORIGIN      
        1 mtstpldada amrdgtlaqq hashplllll anstvllpqt pslappkqwk pwrcsheplt
       61 paepltkpge qdfssqghng lvaaaylqrl gvntavferr hviggaavte eiipgfkfsr
      121 asyllsllrp qiytdlelkk hglrlhlrnp ysftpmleeg agskvprcll lgtdmaenqk
      181 qiaqfsqkda qvfpkyeefm hrlalaidpl ldaapvdmaa fqhgsllqrm rslstlkpll
      241 kagrilgaql pryyevltap itkvldqwfe seplkatlat davigamtsp htpgsgyvll
      301 hhvmgglegm qgawgyvqgg mgalsdaias satthgasif tektvakvqv nsegcvqgvv
      361 ledgtevrsk mvlsntspqi tflkltpqew lpeefleris qldtrspvtk invavdrlps
      421 flaapnaprg qplphhqcsi hlncedtlll hqafedamdg lpshrpviel cipssldptl
      481 appgchvvsl ftqympytla ggkawdeqer dayadrvfdc ievyapgfkd svvgrdiltp
      541 pdlerifglp ggkiswkekn ic
//
LOCUS       XP_054223130            1807 aa            linear   PRI 20-MAR-2023
DEFINITION  disks large homolog 5 isoform X6 [Homo sapiens].
ACCESSION   XP_054223130
VERSION     XP_054223130.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367155.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1807
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1807
                     /product="disks large homolog 5 isoform X6"
                     /calculated_mol_wt=201865
     CDS             1..1807
                     /gene="DLG5"
                     /gene_synonym="LP-DLG; P-DLG5; PDLG"
                     /coded_by="XM_054367155.1:98..5521"
                     /db_xref="GeneID:9231"
                     /db_xref="HGNC:HGNC:2904"
                     /db_xref="MIM:604090"
ORIGIN      
        1 mqgsrpkqsh pggttgkaps ppplltdrqv nekvenlsiq lrlmtrerne lrkrlafath
       61 gtafdkrpyh rlnpdyerlk iqcvramsdl qslqnqhtna lkrceevake tdfyhtlhsr
      121 llsdqtrlkd dvdmlrreng qllrernllq qswedmkrlh eedqkeigdl raqqqqvlkh
      181 ngsseilnkl ydtamdklev vkkdydalrk rysekvaihn adlsrleqlg eenqrllkqt
      241 emltqqrdta iqlqhqcals lrrfeaihhe lnkataqnkd lqwemellqs eltelrttqv
      301 ktakesekyr eerdavysey klimserdqv iseldklqte velaesklks stsekkaane
      361 emealrqikd tvtmdagran keveilrkqc kalcqelkea lqeadvakcr rdwafqerdk
      421 ivaerdsirt lcdnlrrerd ravselaeal rslddtrkqk ndvsrelkel keqmesqlek
      481 earfrqlmah sshdsaidtd smewetevve fqretedidl kalgfdmaeg vnepcfpgdc
      541 gifvtkvdkg siadgrlrvn dwllrindvd linkdkkqai kallngegai nmvvrrrksl
      601 ggkvvtplhi nlsgqkdsgi slengvyaaa vlpgspaake gslavgdriv aingialdnk
      661 slnecesllr scqdsltlsl lkvfpqsssw sgqnifenik dsdkmlsfra hgpevqahnk
      721 rnliqhnnst qtdifytdrl edrkepgppg gsssflhkpf pggplqvcpq acpsasersl
      781 ssfrsdasgd rgfglvdvrg rrpllpfete vgpcgvgeas ldkadsegsn sggtwpkaml
      841 sstavpekls vykkpkqrks ifdpntfkrp qtppkidyll pgpgpahspq pskragpltp
      901 pkpprrsdsi kfqhrletss eseatlvgss pstsppsalp pdvdpgepmh aspprkarvr
      961 iassyypegd gdsshlpakk scdedltsqk vdelgqkrrr pksapsfrpk lapvvipaqf
     1021 leeqkcvpas gelspelqew apyspghssr hsnpplypsr psvgtvprsl tpsttvssil
     1081 rnpiytvrsh rvgpcssppa ardagpqglh psvqhqgrls ldlshrtcsd ysemrathgs
     1141 nslpssarlg sssnlqfkae rikipstpry prsvvgserg svshsecstp pqsplnidtl
     1201 sscsqsqtsa stlpriavnp aslgerrkdr pyveeprhvk vqkgseplgi sivsgekggi
     1261 yvskvtvgsi ahqagleygd qllefnginl rsateqqarl iigqqcdtit ilaqynphvh
     1321 qlsshsrsss hldpagthst lqgsgtttpe hpsvidplme qdegpstppa kqsssriagd
     1381 ankktleprv vfikksqlel gvhlcggnlh gvfvaevedd spakgpdglv pgdlileygs
     1441 ldvrnktvee vyvemlkprd gvrlkvqyrp eeftkakglp gdsfyiraly drladveqel
     1501 sfkkddilyv ddtlpqgtfg swmawqlden aqkiqrgqip skyvmdqefs rrlsmsevkd
     1561 dnsatktlsa aarrsffrrk hkhkrsgskd gkdllaldaf ssdsiplfed svslayqrvq
     1621 kvdctalrpv lilgplldvv kemlvneapg kfcrcplevm kasqqaierg vkdclfvdyk
     1681 rrsghfdvtt vasikeitek nrhclldiap haierlhhmh iypivifihy ksakhikeqr
     1741 dpiylrdkvt qrhskeqfea aqkleqeysr yftgviqgga lssictqila mvnqeqnkvl
     1801 wipacpl
//
LOCUS       XP_054223722             313 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM76B isoform X1 [Homo sapiens].
ACCESSION   XP_054223722
VERSION     XP_054223722.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367747.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 29% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..313
                     /product="protein FAM76B isoform X1"
                     /calculated_mol_wt=35657
     CDS             1..313
                     /gene="FAM76B"
                     /coded_by="XM_054367747.1:541..1482"
                     /db_xref="GeneID:143684"
                     /db_xref="HGNC:HGNC:28492"
ORIGIN      
        1 mlsecriahp ivkctycrse fqqesktnti ckkcaqnvkq fgtpkpcqyc niiaafigtk
       61 cqrctnsekk ygppqtceqc kqqcafdrke egrrkvdgkl lcwlctlsyk rvlqktkeqr
      121 kslgsshsns ssssltekdq hhpkhhhhhh hhhhrhsssh hkisnlspee eqglwkqshk
      181 ssatiqnetp kkkpkleskp sngdsssinq sadsggtdnf vlisqlkeev mslkrllqqr
      241 dqtilekdkk ltelkadfqy qesnlrtkmn smekahketv eqlqaknrel lkqvaalskg
      301 kkfdksgsil tsp
//
LOCUS       XP_054224856            2912 aa            linear   PRI 20-MAR-2023
DEFINITION  serine-protein kinase ATM isoform X3 [Homo sapiens].
ACCESSION   XP_054224856
VERSION     XP_054224856.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368881.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2912
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2912
                     /product="serine-protein kinase ATM isoform X3"
                     /calculated_mol_wt=334294
     CDS             1..2912
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /coded_by="XM_054368881.1:151..8889"
                     /db_xref="GeneID:472"
                     /db_xref="HGNC:HGNC:795"
                     /db_xref="MIM:607585"
ORIGIN      
        1 mslvlndlli ccrqlehdra terkkevekf krlirdpeti khldrhsdsk qgkylnwdav
       61 frflqkyiqk eteclriakp nvsastqasr qkkmqeissl vkyfikcanr raprlkcqel
      121 lnyimdtvkd ssngaiygad csnillkdil svrkywceis qqqwlelfsv yfrlylkpsq
      181 dvhrvlvari ihavtkgccs qtdglnskfl dffskaiqca rqeksssgln hilaaltifl
      241 ktlavnfrir vcelgdeilp tllyiwtqhr lndslkevii elfqlqiyih hpkgaktqek
      301 gayestkwrs ilynlydllv neishigsrg kyssgfrnia vkenlielma dichqvfned
      361 trsleisqsy tttqressdy svpckrkkie lgwevikdhl qksqndfdlv pwlqiatqli
      421 skypaslpnc elspllmils qllpqqrhge rtpyvlrclt evalcqdkrs nlessqksdl
      481 lklwnkiwci tfrgisseqi qaenfgllga iiqgslvevd refwklftgs acrpscpavc
      541 cltlalttsi vpgtvkmgie qnmcevnrsf slkesimkwl lfyqlegdle nstevppilh
      601 snfphlvlek ilvsltmknc kaamnffqsv pecehhqkdk eelsfsevee lflqttfdkm
      661 dfltivrecg iekhqssigf svhqnlkesl drcllglseq llnnysseit nsetlvrcsr
      721 llvgvlgcyc ymgviaeeea ykselfqkak slmqcagesi tlfknktnee frigslrnmm
      781 qlctrclsnc tkkspnkias gfflrlltsk lmndiadick slasfikkpf drgevesmed
      841 dtngnlmeve dqssmnlfnd ypdssvsdan epgesqstig ainplaeeyl skqdllfldm
      901 lkflclcvtt aqtntvsfra adirrkllml idsstleptk slhlhmylml lkelpgeeyp
      961 lpmedvlell kplsnvcsly rrdqdvckti lnhvlhvvkn lgqsnmdsen trdaqgqflt
     1021 vigafwhltk erkyifsvrm alvnclktll eadpyskwai lnvmgkdfpv nevftqflad
     1081 nhhqvrmlaa esinrlfqdt kgdssrllka lplklqqtaf enaylkaqeg mremshsaen
     1141 petldeiynr ksvlltliav vlscspicek qalfalcksv kenglephlv kkvlekvset
     1201 fgyrrledfm ashldylvle wlnlqdteyn lssfpfilln ytniedfyrs cykvliphlv
     1261 irshfdevks ianqiqedwk slltdcfpki lvnilpyfay egtrdsgmaq qretatkvyd
     1321 mlksenllgk qidhlfisnl peivvellmt lhepanssas qstdlcdfsg dldpapnpph
     1381 fpshvikatf ayisnchktk lksileilsk spdsyqkill aiceqaaetn nvykkhrilk
     1441 iyhlfvslll kdiksglgga wafvlrdviy tlihyinqrp scimdvslrs fslccdllsq
     1501 vcqtavtyck dalenhlhvi vgtliplvye qvevqkqvld llkylvidnk dnenlyitik
     1561 lldpfpdhvv fkdlritqqk ikysrgpfsl leeinhflsv svydalpltr leglkdlrrq
     1621 lelhkdqmvd imrasqdnpq dgimvklvvn llqlskmain htgekevlea vgsclgevgp
     1681 idfstiaiqh skdasytkal klfedkelqw tfimltylnn tlvedcvkvr saavtclkni
     1741 latktghsfw eiykmttdpm laylqpfrts rkkflevprf dkenpfegld dinlwiplse
     1801 nhdiwiktlt cafldsggtk ceilqllkpm cevktdfcqt vlpylihdil lqdtneswrn
     1861 llsthvqgff tsclrhfsqt srsttpanld sesehffrcc ldkksqrtml avvdymrrqk
     1921 rpssgtifnd afwldlnyle vakvaqscaa hftallyaei yadkksmddq ekrslafeeg
     1981 sqsttissls ekskeetgis lqdllleiyr sigepdslyg cgggkmlqpi trlrtyehea
     2041 mwgkalvtyd letaipsstr qagiiqalqn lglchilsvy lkgldyenkd wcpeleelhy
     2101 qaawrnmqwd hctsvskeve gtsyheslyn alqslrdref stfyeslkya rvkeveemck
     2161 rslesvysly ptlsrlqaig elesigelfs rsvthrqlse vyikwqkhsq llkdsdfsfq
     2221 epimalrtvi leilmekemd nsqrecikdi ltkhlvelsi lartfkntql peraifqikq
     2281 ynsvscgvse wqleeaqvfw akkeqslals ilkqmikkld ascaannpsl kltyteclrv
     2341 cgnwlaetcl enpavimqty lekavevagn ydgessdelr ngkmkaflsl arfsdtqyqr
     2401 ienymkssef enkqallkra keevgllreh kiqtnrytvk vqreleldel alralkedrk
     2461 rflckaveny incllsgeeh dmwvfrlcsl wlensgvsev ngmmkrdgmk iptykflplm
     2521 yqlaarmgtk mmgglgfhev lnnlisrism dhphhtlfii lalananrde fltkpevarr
     2581 sritknvpkq ssqldedrte aanriictir srrpqmvrsv ealcdayiil anldatqwkt
     2641 qrkginipad qpitklknle dvvvptmeik vdhtgeygnl vtiqsfkaef rlaggvnlpk
     2701 iidcvgsdgk errqlvkgrd dlrqdavmqq vfqmcntllq rntetrkrkl tictykvvpl
     2761 sqrsgvlewc tgtvpigefl vnnedgahkr yrpndfsafq cqkkmmevqk ksfeekyevf
     2821 mdvcqnfqpv fryfcmekfl dpaiwfekrl aytrsvatss ivgyilglgd rhvqniline
     2881 qsaelvhidl ecrkrsvnvm teiqnlqqid fs
//
LOCUS       XP_054227789             555 aa            linear   PRI 20-MAR-2023
DEFINITION  probable C-mannosyltransferase DPY19L2 isoform X11 [Homo sapiens].
ACCESSION   XP_054227789
VERSION     XP_054227789.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371814.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..555
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..555
                     /product="probable C-mannosyltransferase DPY19L2 isoform
                     X11"
                     /calculated_mol_wt=63940
     CDS             1..555
                     /gene="DPY19L2"
                     /gene_synonym="SPATA34; SPGF9"
                     /coded_by="XM_054371814.1:101..1768"
                     /db_xref="GeneID:283417"
                     /db_xref="HGNC:HGNC:19414"
                     /db_xref="MIM:613893"
ORIGIN      
        1 mrkqgvsskr lqssgrsqsk grrgaslare peveeemeks algggklprg swrsspgriq
       61 slkerkglel evvaktfllg pfqfvrnsla qlrekvqelq arrfssrttl giavfvailh
      121 wlhlvtlfen drhfshlssl eremtfrtem glyysyfkti ieapsflegl wmimndrlte
      181 ypliinaikr fhlypeviia swyctfmgim nlfgletktc wnvtriepln evqsceglgd
      241 pacfyvgvif ilnglmmglf fmygaylsgt qlgglitvlc fffnhgeatr vmwtpplres
      301 fsypflvlqm ciltlilrts sndrrpfial clsnvafmlp wqfaqfilft qiaslfpmyv
      361 vgyiepskfq kiiymnmisv tlsfilmfgn smylssyyss sllmtwaiil krneiqklgv
      421 sklnfwliqg sawwcgtiil kfltskilgv sdhirlsdli aarilrytdf dtliytcape
      481 fdfmekatpl rytktlllpv vmvitcfifk ktvrdisyvl atniylrqme hremclgilk
      541 knewrtldtv pirst
//
LOCUS       XP_054228701             649 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase R isoform X1 [Homo
            sapiens].
ACCESSION   XP_054228701
VERSION     XP_054228701.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372726.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..649
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..649
                     /product="receptor-type tyrosine-protein phosphatase R
                     isoform X1"
                     /calculated_mol_wt=72869
     CDS             1..649
                     /gene="PTPRR"
                     /gene_synonym="EC-PTP; PCPTP1; PTP-SL; PTPBR7; PTPRQ"
                     /coded_by="XM_054372726.1:29..1978"
                     /db_xref="GeneID:5801"
                     /db_xref="HGNC:HGNC:9680"
                     /db_xref="MIM:602853"
ORIGIN      
        1 mscprnlclt lgcfsgnndh flainqkksg kpvfiykhsq dieksldiap qkiyrhsyhs
       61 sseaqvskrh qivnsafprp aydpslnlla mdgqdleven lpipaanviv vtlqmdvnkl
      121 nitllrifrq gvaaalgllp qqvhinrlig kknsielfvs pinrktgisd alpseevlrs
      181 lninvlhqsl sqfgitevsp eknvlqgqhe adkiwskegf yavviflsif viivtclmil
      241 yrlkerfqls lrqdkeknqe ihlspitlqp alseaktvhs mvqpeqapkv lnvvvdpqgr
      301 gapeiratta tsvcpspfkm kpiglqerrg snvsltldms slgniepfvs iptprekvam
      361 eylqsasril trsqlrdvva sshllqsefm eipmnfvdpk eidiprhgtk nryktilpnp
      421 lsrvclrpkn vtdslstyin anyirgysgk ekafiatqgp mintvddfwq mvwqedspvi
      481 vmitklkekn ekcvlywpek rgiygkvevl visvnecdny tirnlvlkqg shtqhvkhyw
      541 ytswpdhktp dsaqpllqlm ldveedrlas qgrgpvvvhc sagigrtgcf iatsigcqql
      601 keegvvdals ivcqlrmdrg gmvqtseqye fvhhalclye srlsaetvq
//
LOCUS       XP_054228865             538 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein Eos isoform X4 [Homo sapiens].
ACCESSION   XP_054228865
VERSION     XP_054228865.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372890.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..538
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..538
                     /product="zinc finger protein Eos isoform X4"
                     /calculated_mol_wt=58757
     CDS             1..538
                     /gene="IKZF4"
                     /gene_synonym="EOS; ZNFN1A4"
                     /coded_by="XM_054372890.1:244..1860"
                     /db_xref="GeneID:64375"
                     /db_xref="HGNC:HGNC:13179"
                     /db_xref="MIM:606239"
ORIGIN      
        1 mdiedcngrs yvsgsgdssl ekeflgapvg psvstpnsqh sspsrslsan sikvemysde
       61 essrllgpde rllekddsvi vedslseplg ycdgsgpeph spggirlpng klkcdvcgmv
      121 cigpnvlmvh krshtgerpf hcnqcgasft qkgnllrhik lhsgekpfkc pfcnyacrrr
      181 daltghlrth svssptvgkp ykcnycgrsy kqqstleehk erchnylqsl steaqalagq
      241 pgdeirdlem vpdsmlhsss erptfidrla nsltkrkrst pqkfvgekqm rfslsdlpyd
      301 vnsggyekdv elvahhslep gfgsslafvg aehlrplrlp ptnciseltp vissvytqmq
      361 plpgrlelpg sreagegped ladggpllyr prgpltdpga spsngcqdst dtesnhedrv
      421 agvvslpqgp ppqppptivv grhspayake dpkpqegllr gtpgpskevl rvvgesgepv
      481 kafkcehcri lfldhvmfti hmgchgfrdp fecnicgyhs qdryefsshi vrgehkvg
//
LOCUS       XP_054229313             478 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-coupled neutral amino acid symporter 1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054229313
VERSION     XP_054229313.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373338.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..478
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..478
                     /product="sodium-coupled neutral amino acid symporter 1
                     isoform X3"
                     /calculated_mol_wt=53326
     CDS             1..478
                     /gene="SLC38A1"
                     /gene_synonym="ATA1; NAT2; SAT1; SNAT1"
                     /coded_by="XM_054373338.1:589..2025"
                     /db_xref="GeneID:81539"
                     /db_xref="HGNC:HGNC:13447"
                     /db_xref="MIM:608490"
ORIGIN      
        1 mmhfksglel telqnmtvpe ddnisndsnd ftevengqin skfisdresr rsltnshlek
       61 kkcdeyipgt tslgmsvfnl snaimgsgil glafalantg illflvllts vtllsiysin
      121 lllicsketg cmvyeklgeq vfgttgkfvi fgatslqntg amlsylfivk nelpsaikfl
      181 mgkeetfsaw yvdgrvlvvi vtfgiilplc llknlgylgy tsgfslscmv fflivviykk
      241 fqipcivpel nstisanstn adtctpkyvt fnsktvyalp tiafafvchp svlpiyselk
      301 drsqkkmqmv snisffamfv myfltaifgy ltfydnvqsd llhkyqskdd ililtvrlav
      361 ivaviltvpv lfftvrsslf elakktkfnl crhtvvtcil lvvinllvif ipsmkdifgv
      421 vgvtsanmli filpsslylk itdqdgdkgt qriwicfgtt dldskttfly wdscfqvw
//
LOCUS       XP_054230703             155 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 10 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054230703
VERSION     XP_054230703.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374728.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..155
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..155
                     /product="ankyrin repeat domain-containing protein 10
                     isoform X4"
                     /calculated_mol_wt=16258
     CDS             1..155
                     /gene="ANKRD10"
                     /coded_by="XM_054374728.1:136..603"
                     /db_xref="GeneID:55608"
                     /db_xref="HGNC:HGNC:20265"
ORIGIN      
        1 msaagagagv eagfsseell slrfplhrac rdgdlatlcs llqqtphahl asedsfygwt
       61 pvhwaahfgk leclvqlvra gatlnvsttr yaqtpahiaa fgghpqclvw liqaganink
      121 pdcegetpih kaarsgslec isalvangah velhl
//
LOCUS       XP_054230841             406 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of nonsense transcripts 3A isoform X1 [Homo sapiens].
ACCESSION   XP_054230841
VERSION     XP_054230841.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374866.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..406
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..406
                     /product="regulator of nonsense transcripts 3A isoform X1"
                     /calculated_mol_wt=46559
     CDS             1..406
                     /gene="UPF3A"
                     /gene_synonym="HUPF3A; RENT3A; UPF3"
                     /coded_by="XM_054374866.1:40..1260"
                     /db_xref="GeneID:65110"
                     /db_xref="HGNC:HGNC:20332"
                     /db_xref="MIM:605530"
ORIGIN      
        1 mrsekegagg lraavaargp sgreklsale vqfhrdsqqq eaetpptsss gcgggagkpr
       61 eekrtalskv virrlppglt keqleeqlrp lpahdyfeff aadlslyphl ysrayinfrn
      121 pddillfrdr fdgyifldsk arrttplley iknrklekqr ireekreerr rrelekkrlr
      181 eeekrrrree erckkketdk qkkiaekevr ikllkkpekg eepttekpke rgeeidtggg
      241 kqescapgav vkarpmegsl eepqetshsg sdkehrdver sqeqeseaqr yhvddgrrhr
      301 ahheperlsr rsedeqrwgk gpgqdrgkkg sqdsgapgea merlgraqrc ddspaprker
      361 lankdrpalq lydpgarfra recggnrric kaegsgtgpe kreeae
//
LOCUS       XP_054231627             719 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Smaug homolog 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054231627
VERSION     XP_054231627.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375652.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..719
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..719
                     /product="protein Smaug homolog 1 isoform X3"
                     /calculated_mol_wt=79371
     CDS             1..719
                     /gene="SAMD4A"
                     /gene_synonym="SAMD4; SMAUG; SMAUG1; SMG; SMGA"
                     /coded_by="XM_054375652.1:742..2901"
                     /db_xref="GeneID:23034"
                     /db_xref="HGNC:HGNC:23023"
                     /db_xref="MIM:610747"
ORIGIN      
        1 mmfrdqvgvl agwfkgwnec eqtvallsll krvsqtqarf lqlclehsla dcaelhvler
       61 eanspgiinq wqqeskdkvi slllthlpll kpgnldakve ymkllpkila hsiehnqhie
      121 esrqllsyal ihpatsledr salamwlnhl edrtstssfg gqnrgrsdsv dygqthyyhq
      181 rqnsddklng wqnsrdsgic inasnwqdks mgcenghvpl yssssvptti ntigtststi
      241 lsgqahhspl krsvsltppm nvpnqplghg wmshedlrar gpqclpsdha plspqssvas
      301 sgsggsehle dqttarntfq eegsgmkdvp awlkslrlhk yaalfsqmty eemmaltecq
      361 leaqnvtkga rhkivisiqk lkerqnllks lerdiieggs lriplqelhq miltpikays
      421 spsttpearr repqaprqps lmgpesqspd ckdgaaatga tatpsagasg glqphqlssc
      481 dgelavaplp egdlpgqftr vmgkvctqll vsrpdeenis sylqlidkcl iheaftetqk
      541 krllswkqqv qklfrsfprk tlldisgyrq qrnrgfgqsn slptagsvgg gmgrrnprqy
      601 qipsrnvpsa rlgllgtsgf vssnqrntta tptimkqgrq nlwfanpggs nsmpsrthss
      661 vqrtrslpvh tspqnmlmfq qpefqlpvte pdinnrlesl clsmtehalg dgvdrtsti
//
LOCUS       XP_054232124             237 aa            linear   PRI 20-MAR-2023
DEFINITION  neural retina-specific leucine zipper protein isoform X2 [Homo
            sapiens].
ACCESSION   XP_054232124
VERSION     XP_054232124.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376149.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..237
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..237
                     /product="neural retina-specific leucine zipper protein
                     isoform X2"
                     /calculated_mol_wt=25809
     CDS             1..237
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
                     /coded_by="XM_054376149.1:335..1048"
                     /db_xref="GeneID:4901"
                     /db_xref="HGNC:HGNC:8002"
                     /db_xref="MIM:162080"
ORIGIN      
        1 malppsplam eyvndfdlmk fevkrepseg rpgpptaslg stpyssvpps ptfsepgmvg
       61 ategtrpgle elywlatlqq qlgagealgl speeamellq gqgpvpvdgp hgyypgspee
      121 tgaqhvqlae rfsdaalvsm svrelnrqlr gcgrdealrl kqrrrtlknr gyaqacrskr
      181 lqqrrgleae rarlaaqlda lraevarlar erdlykarcd rltssgpgsg dpshlfl
//
LOCUS       XP_054233736             553 aa            linear   PRI 20-MAR-2023
DEFINITION  histidine decarboxylase isoform X4 [Homo sapiens].
ACCESSION   XP_054233736
VERSION     XP_054233736.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377761.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..553
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..553
                     /product="histidine decarboxylase isoform X4"
                     /calculated_mol_wt=61203
     CDS             1..553
                     /gene="HDC"
                     /coded_by="XM_054377761.1:141..1802"
                     /db_xref="GeneID:3067"
                     /db_xref="HGNC:HGNC:4855"
                     /db_xref="MIM:142704"
ORIGIN      
        1 msastvsest liallaarkn kilemktsep dadesclnar lvayasdqah ssvekaglis
       61 lvkmkflpvd dnfslrgeal qkaieedkqr glvpvfvcat lgttgvcafd clselgpisk
      121 ahhpcsppls larcetsfpt sylpsgqvmf assgareglw lhidaayagt aflcpefrgf
      181 lkgieyadsf tfnpskwmmv hfdctgfwvk dkyklqqtfs vnpiylrhan sgvatdfmhw
      241 qiplsrrfrs vklwfvirsf gvknlqahvr hgtemakyfe slvrndpsfe ipakrhlglv
      301 vfrlkgpncl tenvlkeiak agrlflipat iqdkliirft vtsqfttrdd ilrdwnlird
      361 aatlilsqhc tsqpsprvgn lisqirgara wacgtslqsv sgagddpvqa rkiikqpqrv
      421 gagpmkreng lhletlldpv ddcfseeapd atkhklssfl fsylsvqtkk ktvrslscns
      481 vpvsaqkplp teasvknggs srvrifsrfp edmmmlkksa fkklikfysv psfpecssqc
      541 glqlpccplq amv
//
LOCUS       XP_054169622             398 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear pore complex-interacting protein family member A2 isoform
            X1 [Homo sapiens].
ACCESSION   XP_054169622
VERSION     XP_054169622.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313647.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..398
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..398
                     /product="nuclear pore complex-interacting protein family
                     member A2 isoform X1"
                     /calculated_mol_wt=45243
     CDS             1..398
                     /gene="NPIPA2"
                     /gene_synonym="NPIP; NPIPA1"
                     /coded_by="XM_054313647.1:118..1314"
                     /db_xref="GeneID:642799"
                     /db_xref="HGNC:HGNC:41979"
ORIGIN      
        1 mvklsivltp rflshdqgql tkelqqhvks vtcpceylrk vtlrnpgssg rkerpeagtg
       61 swlgrtrsqv intladhrhr gtdfggspwl liitvflrsy kfaislctsy lcvsflktif
      121 psqnghdgst dvqqrarrsn rrrqegikiv lediftlwrq vetkvrakic kmkvttkvnr
      181 hdkingkrkt akehlrklsm kerehgeker qvseaeengk ldmkeihtym emfqraqalr
      241 rraedyyrck itpsarkplc nrvrmaaveh rhssglpywp yltaetlknr mghqpppptq
      301 qhsiidnsls lktppecllt plppsalpsa ddnlktpaec llyplppsad dnlktppecl
      361 ltplppsapp saddnlktpp kcvcslpfhp qrmiisrn
//
LOCUS       XP_054170796            2055 aa            linear   PRI 20-MAR-2023
DEFINITION  chromodomain-helicase-DNA-binding protein 3 isoform X10 [Homo
            sapiens].
ACCESSION   XP_054170796
VERSION     XP_054170796.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314821.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2055
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2055
                     /product="chromodomain-helicase-DNA-binding protein 3
                     isoform X10"
                     /calculated_mol_wt=232369
     CDS             1..2055
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /coded_by="XM_054314821.1:12..6179"
                     /db_xref="GeneID:1107"
                     /db_xref="HGNC:HGNC:1918"
                     /db_xref="MIM:602120"
ORIGIN      
        1 masplrdeee eeeemvvsee eeeeeeegde eeeeeveaad eddeedddeg vlgrgpghdr
       61 grdrhsppgc hlfppppppp pplppppppp ppdkddirll psalgvkkrk rgpkkqkenk
      121 pgkprkrkkr dseeefgser deyreksesg gseygtgpgr krrrkhrekk ekktkrrkkg
      181 egdggqkqve qkssatlllt wgledvehvf seedyhtltn ykafsqfmrp liakknpkip
      241 mskmmtilga kwrefsannp fkgsaaavaa aaaaaaaava eqvsaavssa tpiapsgppa
      301 lppppaadiq pppirraktk egkgpghkrr sksprvpdgr kklrgkkmap lkiklgllgg
      361 krkkggssde gpepeaeesd ldsgsvhsas grpdgpvrtk klkrgrpgrk kkkvlgcpav
      421 ageeevdgye tdhqdycevc qqggeiilcd tcprayhlvc ldpeldrape gkwscphcek
      481 egvqweakee eeeyeeegee egekeeeddh meycrvckdg gellccdaci ssyhihclnp
      541 plpdipngew lcprctcpvl kgrvqkilhw rwgeppvavp apqqadgnpd vppprplqgr
      601 sereffvkwv glsywhcswa kelqleifhl vmyrnyqrkn dmdepppldy gsgeddgksd
      661 krkvkdphya emeekyyrfg ikpewmtvhr iinhsvdkkg nyhylvkwrd lpydqstwee
      721 demnipeyee hkqsywrhre limgedpaqp rkykkkkkel qgdgppsspt ndptvkyetq
      781 prfitatggt lhmyqlegln wlrfswaqgt dtilademgl gktiqtivfl yslykeghtk
      841 gpflvsapls tiinwerefq mwapkfyvvt ytgdkdsrai irenefsfed naikggkkaf
      901 kmkreaqvkf hvlltsyeli tidqaalgsi rwaclvvdea hrlknnqskf frvlngykid
      961 hkllltgtpl qnnleelfhl lnfltperfn nlegfleefa diskedqikk lhdllgphml
     1021 rrlkadvfkn mpaktelivr velspmqkky ykyiltrnfe alnsrgggnq vsllnimmdl
     1081 kkccnhpylf pvaamespkl psgayeggal ikssgklmll qkmlrklkeq ghrvlifsqm
     1141 tkmldlledf ldyegykyer idggitgalr qeaidrfnap gaqqfcflls tragglginl
     1201 atadtviifd sdwnphndiq afsrahrigq ankvmiyrfv trasveerit qvakrkmmlt
     1261 hlvvrpglgs kagsmskqel ddilkfgtee lfkdenegen keedssvihy dneaiarlld
     1321 rnqdatedtd vqnmneylss fkvaqyvvre edkieeiere iikqeenvdp dywekllrhh
     1381 yeqqqedlar nlgkgkrvrk qvnyndaaqe dqdnqseysv gseeededfd erpegrrqsk
     1441 rqlrnekdkp lppllarvgg nievlgfntr qrkaflnavm rwgmppqdaf ttqwlvrdlr
     1501 gktekefkay vslfmrhlce pgadgsetfa dgvpreglsr qqvltrigvm slvkkkvqef
     1561 ehingrwsmp elmpdpsads krssrasspt ktspttpeas atnspctskp atpapsekge
     1621 girtplekee aenqeekpek nsrigekmet eadapspaps lgerleprki pledevpgvp
     1681 gemepepgyr gdreksates tpgergeekp ldgqehrerp egetgdlgkr edvkgdrelr
     1741 pgprdeprsn grreektekp rfmfniadgg ftelhtlwqn eeraaissgk lneiwhrrhd
     1801 ywllagivlh gyarwqdiqn daqfaiinep fkteankgnf lemknkflar rfklleqalv
     1861 ieeqlrraay lnlsqepahp amalharfae aeclaeshqh lskeslagnk panavlhkvl
     1921 nqleellsdm kadvtrlpat lsrippiaar lqmsersils rlaskgteph ptpayppgpy
     1981 atppgygaaf saapvgalaa aganysqmpa gsfitaatng ppvlvkkeke mvgalvsdgl
     2041 drkepragev icidd
//
LOCUS       XP_054171440            2840 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleosome-remodeling factor subunit BPTF isoform X37 [Homo
            sapiens].
ACCESSION   XP_054171440
VERSION     XP_054171440.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315465.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2840
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2840
                     /product="nucleosome-remodeling factor subunit BPTF
                     isoform X37"
                     /calculated_mol_wt=315656
     CDS             1..2840
                     /gene="BPTF"
                     /gene_synonym="FAC1; FALZ; NEDDFL; NURF301"
                     /coded_by="XM_054315465.1:223..8745"
                     /db_xref="GeneID:2186"
                     /db_xref="HGNC:HGNC:3581"
                     /db_xref="MIM:601819"
ORIGIN      
        1 mrgrrgrppk qpaapaaerc apappppppp ptsgpigglr srhrgssrgr waaaqaevap
       61 ktrlssprgg sssrrkpppp ppappstsap grggrggggg rtgggggggh larttaarra
      121 vnkvvyddhe seeeeeeedm vseeeeeedg daeetqdsed deedemeedd ddsdypeeme
      181 dddddasyct essfrshsty sstpgrrkpr vhrprspile ekdipplefp kssedlmvpn
      241 ehimnviaiy evlrnfgtvl rlspfrfedf caalvsqeqc tlmaemhvvl lkavlreedt
      301 snttfgpadl kdsvnstlyf idgmtwpevl rvycesdkey hhvlpyqeae dypygpvenk
      361 ikvlqflvdq flttniaree lmsegviqyd dhcrvchklg dllccetcsa vyhlecvkpp
      421 leevpedewq cevcvahkvp gvtdcvaeiq knkpyirhep igydrsrrky wflnrrliie
      481 edtenenekk iwyystkvql aelidcldkd yweaelckil eemreeihrh mditedltnk
      541 argsnksfla aaneeilesi rakkgdidnv kspeetekdk netendskda eknreefedq
      601 slekdsddkt pdddpeqgks eeepnktces sntsatttsi qpnlensnss selnssqses
      661 akaaddpeng ereshtpvsi qeeivgdfks eksngelses pgagkgasgs triitrlrnp
      721 dsklsqlksq qvaaaahean klfkegkevl vvnsqgeisr lstkkevimk gninnyfklg
      781 qegkyrvyhn qystnsfaln khqhredhdk rrhlahkfcl tpagefkwng svhgskvlti
      841 stlrltitql ennipssflh pnwashranw ikavqmcskp refalalail ecavkpvvml
      901 piwreslght rlhrmtsier eekekvkkke kkqeeeetmq qatwvkytfp vkhqvwkqkg
      961 eeyrvtgygg wswiskthvy rfvpklpgnt nvnyrksleg tknnmdenmd esdkrkcsrs
     1021 pkkikiepds ekdevkgsda akgadqnemd iskitekkdq dvkelldsds dkpckeepme
     1081 vdddmktesh vncqessqvd vvnvsegfhl rtsykkktks skldgllerr ikqftleekq
     1141 rlekiklegg ikgigktstn ssknlsespv itkakegcqs dsmrqeqspn anndqpedli
     1201 qgcsesdssv lrmsdpshtt nklypkdrvl ddvsirspet kcpkqnsien dieekvsdla
     1261 srgqepsksk tkgndffidd sklasaddig tlicknkkpl iqeesdtivs ssksalhssv
     1321 pkstndrdat plsramdfeg klgcdsesns tlenssdtvs iqdsseedmi vqnsnesise
     1381 qfrtreqdve vleplkcelv sgestgnced rlpvkgtean gkkpsqqkkl eerpvnkcsd
     1441 qiklknttdk knnenresek kgqrtstfqi ngkdnkpkiy lkgeclkeis esrvvsgnve
     1501 pkvnninkii pendiksltv kesairpfin gdvimedfne rnssetkshl lsssdaegny
     1561 rdsletlpst kesdstqttt psascpesns vnqvedmeie tsevkkvtss pitseeesnl
     1621 sndfidengl pinknenvng eskrktvite vttmtstvat esktvikvek gdkqtvvsst
     1681 encakstvtt ttttvtklst pstggsvdii svkeqsktvv tttvtdsltt tggtlvtsmt
     1741 vskeystrdk vklmkfsrpk ktrsgtalps yrkfvtkssk ksifvlpndd lkklarkggi
     1801 revpyfnyna kpaldiwpyp sprptfgitw ryrlqtvksl agvslmlrll waslrwddma
     1861 akappgggtt rtetseteit tteiikrrdv gpygirseyc irkiicpigv petpketptp
     1921 qrkglrssal rpkrpetpkq tgpviietwv aeeelelwei rafaerveke kaqaveqqak
     1981 krleqqkptv iatsttspts sttstispaq kvmvapisgs vttgtkmvlt tkvgspatvt
     2041 fqqnknfhqt fatwvkqgqs nsgvvqvqqk vlgiipsstg tsqqtftsfq prtatvtirp
     2101 ntsgsggtts nsqvitgpqi rpgmtvirtp lqqstlgkai irtpvmvqpg apqqvmtqii
     2161 rgqpvstavs apntvsstpg qksltsatst sniqssasqp prpqqgqvkl tmaqltqltq
     2221 ghggnqgltv viqgqgqttg qlqlipqgvt vlpgpgqqlm qaampngtvq rflftplatt
     2281 attasttttt vsttaagtge qrqsklspqm qvhqdktlpp aqsssvgpae aqpqtaqpsa
     2341 qpqpqtqpqs paqpevqtqp evqtqttvss hvpseaqpth aqsskpqvaa qsqpqsnvqg
     2401 qspvrvqsps qtrirpstps qlspgqqsqv qtttsqpipi qphtslqips qgqpqsqpqv
     2461 vmkhnavieh lkqkksmtpa ereenqrmiv cnqvmkyild kidkeekqaa kkrkreesve
     2521 qkrskqnatk lsallfkhke qlraeilkkr alldkdlqie vqeelkrdlk ikkekdlmql
     2581 aqatavaapc ppvtpappap papppspppp pavqhtglls tptlpaasqk rkreeekdss
     2641 skskkkkmis ttsketkkdt klycicktpy deskfyigcd rcqnwyhgrc vgilqseael
     2701 ideyvcpqcq stedamtvlt pltekdyegl krvlrslqah kmawpflepv dpndapdyyg
     2761 vikepmdlat meervqrryy ekltefvadm tkifdncryy npsdspfyqc aevlesffvq
     2821 klkgfkasrs hnnklqstas
//
LOCUS       XP_054172192             930 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM37 isoform X20 [Homo sapiens].
ACCESSION   XP_054172192
VERSION     XP_054172192.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316217.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..930
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..930
                     /product="E3 ubiquitin-protein ligase TRIM37 isoform X20"
                     /calculated_mol_wt=104297
     CDS             1..930
                     /gene="TRIM37"
                     /gene_synonym="MUL; POB1; TEF3"
                     /coded_by="XM_054316217.1:420..3212"
                     /db_xref="GeneID:4591"
                     /db_xref="HGNC:HGNC:7523"
                     /db_xref="MIM:605073"
ORIGIN      
        1 mdeqsvesia evfrcficme klrdarlcph csklccfsci rrwlteqraq cphcraplql
       61 relvncrwae evtqqldtlq lcsltkheen ekdkcenhhe klsvfcwtck kcichqcalw
      121 ggmhgghtfk plaeiyeqhv tkvneevakl rrrlmelisl vqevernvea vrnakdervr
      181 eirnavemmi arldtqlknk litlmgqkts ltqetelles llqevehqlr scskselisk
      241 sseilmmfqq vhrkpmasfv ttpvppdfts elvpsydsat fvlenfstlr qradpvyspp
      301 lqvsglcwrl kvypdgngvv rgyylsvfle lsaglpetsk yeyrvemvhq scndptknii
      361 refasdfevg ecwgynrffr ldllanegyl npqndtvilr fqvrsptffq ksrdqhwyit
      421 qleaaqtsyi qqinnlkerl tielsrtqks rdlsppdnhl spqnddalet rakksacsdm
      481 lleggpttas vreakedeed eekiqnedyh helsdgdldl dlvyedevnq ldgssssass
      541 tatsnteend ideetmsgen dveynnmele egelmedaaa agpagsshgy vgsssrisrr
      601 thlcsaatss lldidplili hlldlkdrss ienlwglqpr ppasllqpta sysrkdkdqr
      661 kqqamwrvps dlkmlkrlkt qmaevrcmkt dvkntlseik sssaasgdmq tslfsadqaa
      721 laacgtensg rlqdlgmell akssvancyi rncspgssqs gsrhsspral ihgsigdilp
      781 ktedrqckal dsdavvvavf sglpavekrr kmvtlganak gghleglqmt dlennsetge
      841 lqpvlpegas aapeeetcsp sflpgmssds diecdtenee qeehtsvggf hdsfmvmtqp
      901 pdedthssfp dgeqigpedl sfntdensgr
//
LOCUS       XP_054172282            1358 aa            linear   PRI 20-MAR-2023
DEFINITION  misshapen-like kinase 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054172282
VERSION     XP_054172282.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316307.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1358
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1358
                     /product="misshapen-like kinase 1 isoform X3"
                     /calculated_mol_wt=153008
     CDS             1..1358
                     /gene="MINK1"
                     /gene_synonym="B55; MAP4K6; MEKKK 6; MINK; YSK2; ZC3"
                     /coded_by="XM_054316307.1:245..4321"
                     /db_xref="GeneID:50488"
                     /db_xref="HGNC:HGNC:17565"
                     /db_xref="MIM:609426"
ORIGIN      
        1 mgdpaparsl ddidlsalrd pagifelvev vgngtygqvy kgrhvktgql aaikvmdvte
       61 deeeeikqei nmlkkyshhr niatyygafi kksppgnddq lwlvmefcga gsvtdlvknt
      121 kgnalkedci ayicreilrg lahlhahkvi hrdikgqnvl ltenaevklv dfgvsaqldr
      181 tvgrrntfig tpywmapevi acdenpdaty dyrsdiwslg itaiemaega pplcdmhpmr
      241 alfliprnpp prlkskkwsk kfidfidtcl iktylsrppt eqllkfpfir dqpterqvri
      301 qlkdhidrsr kkreeteyey sgseeeddsh geegepssim nvpgestlrr eflrlqqenk
      361 snsealkqqq qlqqqqqrdp eahikhllhq rqrrieeqke errrveeqqr rereqrklqe
      421 keqqrrledm qalrreeerr qaereqeyir hrleeeqrql eilqqqllqe qallleykrk
      481 qleeqrqser lqrqlqqeha ylkslqqqqq qqqlqkqqqq qllpgdrkpl yhygrgmnpa
      541 dkpawareve ertrmnkqqn splakskpgs tgpeppipqa spgppgplsq tppmqrpvep
      601 qegphkslva hrvplkpyaa pvprsqslqd qptrnlaafp ashdpdpaip aptatpsarg
      661 avirqnsdpt segpgpspnp pawvrpdnea ppkvpqrtss iatalntsga ggsrpaqavr
      721 arprsnsawq iylqrraerg tpkppgppaq ppgppnassn pdlrrsdpgw ersdsvlpas
      781 hghlpqagsl ernrvgassk ldsspvlspg nkakpddhrs rpgrpadfvl lkertldeap
      841 rppkkamdys ssseevesse ddeeegeggp aegsrdtpgg rsdgdtdsvs tmvvhdveei
      901 tgtqppyggg tmvvqrtpee ernllhadsn gytnlpdvvq pshsptensk gqsppskdgs
      961 gdyqsrglvk apgkssftmf vdlgiyqpgg sgdsipital vggegtrldq lqydvrkgsv
     1021 vnvnptntra hsetpeirky kkrfnseilc aalwgvnllv gtenglmlld rsgqgkvygl
     1081 igrrrfqqmd vleglnllit isgkrnklrv yylswlrnki lhndpevekk qgwttvgdme
     1141 gcghyrvvky erikflvial kssvevyawa pkpyhkfmaf ksfadlphrp llvdltveeg
     1201 qrlkviygss agfhavdvds gnsydiyipv hiqsqitpha iiflpntdgm emllcyedeg
     1261 vyvntygrii kdvvlqwgem ptsvayicsn qimgwgekai eirsvetghl dgvfmhkraq
     1321 rlkflcernd kvffasvrsg gssqvyfmtl nrncimnw
//
LOCUS       XP_054173789             578 aa            linear   PRI 20-MAR-2023
DEFINITION  glucagon-like peptide 2 receptor isoform X1 [Homo sapiens].
ACCESSION   XP_054173789
VERSION     XP_054173789.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317814.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..578
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..578
                     /product="glucagon-like peptide 2 receptor isoform X1"
                     /calculated_mol_wt=65697
     CDS             1..578
                     /gene="GLP2R"
                     /coded_by="XM_054317814.1:141..1877"
                     /db_xref="GeneID:9340"
                     /db_xref="HGNC:HGNC:4325"
                     /db_xref="MIM:603659"
ORIGIN      
        1 mklgssragp grgsagllpg vhelpmgipa pwgtsplsfh rkcslwapgr pfltlvllvs
       61 ikqvtgslle ettrkwaqyk qaclrdllke psgifcngtf dqyvcwphss pgnvsvpcps
      121 ylpwwsedhq qiqgqlklfs gkisgyklqa kqessgrayr hclaqgtwqt ienatdiwqd
      181 dsecsenhsf kqnvdryall stlqlmytvg ysfslislfl altlllflrk lhctrnyihm
      241 nlfasfilrt lavlvkdvvf ynsyskrpdn engwmsylse mstscrsvqv llhyfvgany
      301 lwllveglyl htlleptvlp errlwpryll lgwafpvlfv vpwgfarahl entgcwttng
      361 nkkiwwiirg pmmlcvtvnf fiflkilkll isklkahqmc frdykyrlak stlvlipllg
      421 vheilfsfit ddqvegfakl irlfiqltls sfhgflvalq ygfangevka elrkywvrfl
      481 larhsgcrac vlgkdfrflg kcpkklsegd gaeklrklqp slnsgrllhl amrglgelga
      541 qpqqdharwp rgsslsecse gdvtmantme eileesei
//
LOCUS       XP_054174958             360 aa            linear   PRI 20-MAR-2023
DEFINITION  N(6)-adenine-specific methyltransferase METTL4 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054174958
VERSION     XP_054174958.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318983.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..360
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..360
                     /product="N(6)-adenine-specific methyltransferase METTL4
                     isoform X2"
                     /calculated_mol_wt=41400
     CDS             1..360
                     /gene="METTL4"
                     /gene_synonym="HsT661"
                     /coded_by="XM_054318983.1:796..1878"
                     /db_xref="GeneID:64863"
                     /db_xref="HGNC:HGNC:24726"
                     /db_xref="MIM:619626"
ORIGIN      
        1 msvvhqlsag wlldhlsfin kinyqlhqhh epccrkkeft tsvhfeslqm dsvsssgvca
       61 afiasdsstk penddggnye mftrkfvfrp elfdvtkpyi tpavhkecqq snekedlmng
      121 vkkeisisii gkkrkrcvvf nqgeldamey htkirelild gslqliqegl ksgflyplfe
      181 kqdkgskpit lpldacslse lcemakhlps lnemehqtlq lveedtsvte qdlflrvven
      241 nssftkvitl mgqkyllppk ssfllsdisc mqpllnyrkt fdvividppw qnksvkrsnr
      301 ysylsplqik qipipklaap ncllvtwvtn rqkhlrfike elypswsvev vaewhwvkrf
//
LOCUS       XP_054177165             331 aa            linear   PRI 20-MAR-2023
DEFINITION  NAD-dependent protein deacylase sirtuin-6 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054177165
VERSION     XP_054177165.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321190.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..331
                     /product="NAD-dependent protein deacylase sirtuin-6
                     isoform X1"
                     /calculated_mol_wt=36746
     CDS             1..331
                     /gene="SIRT6"
                     /gene_synonym="hSIRT6; SIR2L6"
                     /coded_by="XM_054321190.1:209..1204"
                     /db_xref="GeneID:51548"
                     /db_xref="HGNC:HGNC:14934"
                     /db_xref="MIM:606211"
ORIGIN      
        1 mrthpsafll dvswvlplrc vpwlgmvdhk vknsrpawpi wgphgvwtme erglapkfdt
       61 tfesarptqt hmalvqlerv gllrflvsqn vdglhvrsgf prdklaelhg nmfveecakc
      121 ktqyvrdtvv gtmglkatgr lctvakargl racrgelrdt ildwedslpd rdlaladeas
      181 rnadlsitlg tslqirpsgn lplatkrrgg rlvivnlqpt khdrhadlri hgyvdevmtr
      241 lmkhlgleip awdgprvler alpplprppt pklepkeesp tringsipag pkqepcaqhn
      301 gsepaspkre rptspaphrp pkrvkakavp s
//
LOCUS       XP_054177983             628 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 135 isoform X4 [Homo sapiens].
ACCESSION   XP_054177983
VERSION     XP_054177983.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322008.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..628
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..628
                     /product="zinc finger protein 135 isoform X4"
                     /calculated_mol_wt=71766
     CDS             1..628
                     /gene="ZNF135"
                     /gene_synonym="pHZ-17; pT3; ZNF61; ZNF78L1"
                     /coded_by="XM_054322008.1:407..2293"
                     /db_xref="GeneID:7694"
                     /db_xref="HGNC:HGNC:12919"
                     /db_xref="MIM:604077"
ORIGIN      
        1 mldtfrllvs vghwlpkpnv islleqeael wavesrlpqg vypeikghfq flllsdletr
       61 pkvklsvlkq giseeisnsv ilverflwdg lwycrgedte ghwewscesl eslavpvaft
      121 pvktpvleqw qrngfgenis lnpdlphqpm tperqsphtw gtrgkrekpd lnvlqktcvk
      181 ekpykcqecg kafshssali ehhrthtger pyecheclkg frnssaltkh qrihtgekpy
      241 kctqcgrtfn qiapliqhqr thtgekpyec secgksfsfr ssfsqherth tgekpyecse
      301 cgkafrqsih ltqhlrihtg ekpyqcgecg kafshssslt khqrihtgek pyechecgka
      361 ftqitpliqh qrthtgekpy ecgecgkafs qstlltehrr ihtgekpygc necgktfshs
      421 sslsqherth tgekpyecsq cgkafrqsth ltqhqrihtg ekpyecndcg kafshssslt
      481 khqrihtgek pyecnqcgra fsqlapliqh qrihtgekpy ecnqcgrafs qsslliehqr
      541 ihtkekpygc necgksfshs sslsqherth tgekpyechd cgksfrqsth ltqhrrihtg
      601 ekpyacrdcg kafthssslt khqrthtg
//
LOCUS       XP_054196411            1051 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-3(IV) chain isoform X6 [Homo sapiens].
ACCESSION   XP_054196411
VERSION     XP_054196411.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340436.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1051
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1051
                     /product="collagen alpha-3(IV) chain isoform X6"
                     /calculated_mol_wt=99815
     CDS             1..1051
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3"
                     /coded_by="XM_054340436.1:104..3259"
                     /db_xref="GeneID:1285"
                     /db_xref="HGNC:HGNC:2204"
                     /db_xref="MIM:120070"
ORIGIN      
        1 msartaprpq vlllplllvl laaapaaskg cvckdkgqcf cdgakgekge kgfpgppgsp
       61 gqkgftgpeg lpgpqgpkgf pglpgltgsk gvrgisglpg fsgspglpgt pgntgpyglv
      121 gvpgcsgskg eqgfpglpgt lgypgipgaa glkgqkgapa keedieldak gdpglpgapg
      181 pqglpgppgf pgpvgppgpp gffgfpgamg prgpkghmge rvighkgerg vkgltgppgp
      241 pgtvivtltg pdnrtdlkge kgdkgamgep gppgpsglpg esygsekgap gdpglqgkpg
      301 kdgvpgfpgs egvkgnrgfp glmgedgikg qkgdigppgf rgpteyydty qekgdegtpg
      361 ppgprgargp qgpsgppgvp gspgssrpgl rgapgwpglk gskgergrpg kdamgtpgsp
      421 gcagspglpg spgppgppgd ivfrkgppgd hglpgylgsp gipgvdgpkg epgllctqcp
      481 yipgppglpg lpglhgvkgi pgrqgaaglk gspgspgntg lpgfpgfpga qgdpglkgek
      541 getlqpegqv gvpgdpglrg qpgrkgldgi pgtlgvkglp gpkgelalsg ekgdqgppgd
      601 pgspgspgpa gpagppgygp qgepglqgtq gvpgapgppg eagprgelsv stpvpgppgp
      661 pgppghpgpq gppgipgslg kcgdpglpgp dgepgipgig fpgppgpkgd qgfpgtkgsl
      721 gcpgkmgepg lpgkpglpga kgepavampg gpgtpgfpge rgnsgehgei glpglpglpg
      781 tpgnegldgp rgdpgqpgpp geqgppgrci egprgaqglp glnglkgqqg rrgktgpkgd
      841 pgipgldrsg fpgetgspgi pghqgemgpl gqrgypgnpg ilgppgedgv igmmgfpgai
      901 gppgppgnpg tpgqrgspgi pgvkgqrgtp gakgeqgdkg npgpseishv igdkgepglk
      961 gfagnpgekg nrgvpgmpgl kglkglpgpa gppgprgdlg stgnpgepgl rgipgsmgnm
     1021 gmpgskgkrg tlgfpgragr pglpggsrta g
//
LOCUS       XP_054200766             795 aa            linear   PRI 20-MAR-2023
DEFINITION  glycerol-3-phosphate acyltransferase 2, mitochondrial isoform X4
            [Homo sapiens].
ACCESSION   XP_054200766
VERSION     XP_054200766.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344791.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..795
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..795
                     /product="glycerol-3-phosphate acyltransferase 2,
                     mitochondrial isoform X4"
                     /calculated_mol_wt=87705
     CDS             1..795
                     /gene="LOC128966744"
                     /coded_by="XM_054344791.1:209..2596"
                     /db_xref="GeneID:128966744"
ORIGIN      
        1 matmlegrcq tqprsspsgr easlwssgfg mkleavtpfl gkyrpfvgrc cqtctpkswe
       61 slfhrsitdl gfcnvilvke entrfrgwlv rrlcyflwsl eqhippcqdv pqkimestgv
      121 qnllsgrvpg gtgegqvpdl vkkevqrilg hiqapprpfl vrlfswallr flnclflnvq
      181 lhkgqmkmvq kaaqaglplv llsthktlld gillpfmlls qglgvlrvaw dsracspalr
      241 allrklgglf lppeaslsld ssegllarav vqavieqllv sgqpllifle eppgalgprl
      301 salgqawvgf vvqavqvgiv pdallvpvav tydlvpdapc didhasaplg lwtgalavlr
      361 slwsrwgcsh ricsrvhlaq pfslqeyivs arscwggrqt leqllqpivl gqctavpdte
      421 keqewtpitg pllalkeedq llvrrlschv lsasvgssav mstaimatll lfkhqkllge
      481 fswlteeill rgfdvgfsgq lrsllqhsls llrahvallr irqgdllvvp qpgpglthla
      541 qlsaellpvf lseavgacav rgllagrvpp qgpwelqgil llsqnelyrq illlmhllpq
      601 dllllkpcqs sycycqevld rliqcgllva eetpgsrpac dtgrqrlsrk llwkpsgdft
      661 dsdsddfgea dgryfrlsqq shcpdfflfl crllspllka faqaaaflrq gqlpdtelgy
      721 teqlfqflqa taqeegifec adpklaisav wtfrdlgvlq qtpspagprl hlsptfasld
      781 nqekleqfir qfics
//
LOCUS       XP_054180409            1010 aa            linear   PRI 20-MAR-2023
DEFINITION  trifunctional purine biosynthetic protein adenosine-3 isoform X1
            [Homo sapiens].
ACCESSION   XP_054180409
VERSION     XP_054180409.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324434.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1010
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1010
                     /product="trifunctional purine biosynthetic protein
                     adenosine-3 isoform X1"
                     /calculated_mol_wt=107637
     CDS             1..1010
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /coded_by="XM_054324434.1:242..3274"
                     /db_xref="GeneID:2618"
                     /db_xref="HGNC:HGNC:4163"
                     /db_xref="MIM:138440"
ORIGIN      
        1 maarvliigs ggrehtlawk laqshhvkqv lvapgnagta csekisntai sisdhtalaq
       61 fckekkiefv vvgpeaplaa givgnlrsag vqcfgptaea aqlesskrfa kefmdrhgip
      121 taqwkaftkp eeacsfilsa dfpalvvkas glaagkgviv akskeeacka vqeimqekaf
      181 gaagetivie elldgeevsc lcftdgktva pmppaqdhkr llegdggpnt ggmgaycpap
      241 qvsndlllki kdtvlqrtvd gmqqegtpyt gilyagimlt kngpkvlefn crfgdpecqv
      301 ilpllksdly eviqstldgl lctslpvwle nhtaltvvma skgypgdytk gveitgfpea
      361 qalglevfha gtalkngkvv thggrvlavt airenlisal eeakkglaai kfegaiyrkd
      421 vgfraiaflq qprsltykes gvdiaagnml vkkiqplaka tsrsgckvdl ggfaglfdlk
      481 aagfkdplla sgtdgvgtkl kiaqlcnkhd tigqdlvamc vndilaqgae plffldyfsc
      541 gkldlsvtea vvagiakacg kagcallgge taempdmypp geydlagfav gamerdqklp
      601 hleritegdv vvgiassglh sngfslvrki vaksslqyss papdgcgdqt lgdllltptr
      661 iyshsllpvl rsghvkafah itggglleni prvlpeklgv dldaqtwrip rvfswlqqeg
      721 hlseeemart fncgvgavlv vskeqteqil rdiqqhkeea wvigsvvara egsprvkvkn
      781 liesmqings vlkngsltnh fsfekkkarv avlisgtgsn lqalidstre pnssaqidiv
      841 isnkaavagl dkaeragipt rvinhklykn rvefdsaidl vleefsidiv clagfmrils
      901 gpfvqkwngk mlnihpsllp sfkgsnaheq aletgvtvtg ctvhfvaedv dagqiilqea
      961 vpvkrgdtva tlservklae hkifpaalql vasgtvqlge ngkicwvkee
//
LOCUS       XP_054203348             128 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C3orf14 isoform X1 [Homo sapiens].
ACCESSION   XP_054203348
VERSION     XP_054203348.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347373.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..128
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..128
                     /product="uncharacterized protein C3orf14 isoform X1"
                     /calculated_mol_wt=14876
     CDS             1..128
                     /gene="C3orf14"
                     /gene_synonym="HT021"
                     /coded_by="XM_054347373.1:251..637"
                     /db_xref="GeneID:57415"
                     /db_xref="HGNC:HGNC:25024"
ORIGIN      
        1 mtslfaqeir lskrheeivs qrlmllqqme nklgdqhtek asqlqtveta fkrnlsllkd
       61 ieaaekslqt rihplprpev vsletrywas veeyipkweq fllgrapypf avenqneaen
      121 tiqneaqr
//
LOCUS       XP_054205302            3526 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat and FYVE domain-containing protein 3 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054205302
VERSION     XP_054205302.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349327.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3526
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3526
                     /product="WD repeat and FYVE domain-containing protein 3
                     isoform X4"
                     /calculated_mol_wt=395129
     CDS             1..3526
                     /gene="WDFY3"
                     /gene_synonym="ALFY; BCHS; MCPH18; ZFYVE25"
                     /coded_by="XM_054349327.1:851..11431"
                     /db_xref="GeneID:23001"
                     /db_xref="HGNC:HGNC:20751"
                     /db_xref="MIM:617485"
ORIGIN      
        1 mnmvkrimgr prqeecspqd nalglmhlrr lftelchppr hmtqkeqeek lymmlpvfnr
       61 vfgnappntm tekfsdllqf ttqvsrlmvt eirrrasnks teaasraivq fleinqseea
      121 srgwmlltti nllassgqkt vdcmttmsvp stlvkclylf fdlphvpeav ggaqnelpla
      181 errgllqkvf vqilvklcsf vspaeelaqk ddlqllfsai tswcppynlp wrksagevlm
      241 tisrhglsvn vvkyihekec lstcvqnmqq sddlspleiv emfaglscfl kdssdvsqtl
      301 lddfriwqgy nflcdlllrl eqakeaeskd alkdlvnlit slttygvsel kpagittgap
      361 fllpgfavpq pagkghsvrn vqafavlqna flkaktsfla qiildaitni ymadnanyfi
      421 lesqhtlsqf aekisklpev qnkyfemlef vvfslnyipc kelisvsill kssssyhcsi
      481 iamktllkft rhdyifkdvf revgllevmv nllhkyaall kdptqalneq gdsrnnssve
      541 dqkhlallvm etltvllqgs ntnagifref ggarcahniv kypqcrqhal mtiqqlvlsp
      601 ngdddmgtll glmhsappte lqlktdilra llsvlreshr srtvfrkvgg fvyitsllva
      661 merslscppk ngwekvnqnq vfellhtvfc tltaamryep anshffktei qyekladavr
      721 flgcfsdlrk isamnvfpsn tqpfqrllee dvisiesvsp tlrhcsklfi ylykvatdsf
      781 dsraeqippc ltsesslpsp wgtpalsrkr hayhsvstpp vyppknvadl klhvttsslq
      841 ssdaviihpg amlamldlla svgsvtqpeh aldlqlavan ilqslvhter nqqvmceagl
      901 harllqrcsa aladedhslh pplqrmferl asqalepmvl reflrlaspl ncgawdkkll
      961 kqyrvhkpss lsyepemrss mitsleglgt dnvfslhedn hyriskslvk saegstvplt
     1021 rvkclvsmtt phdirlhgss vtpafvefdt slegfgclfl pslaphnapt nntvttglid
     1081 gavvsgigsg erffpppsgl sysswfcieh fssppnnhpv rlltvvrran sseqhyvcla
     1141 ivlsakdrsl ivstkeellq nyvddfsees sfyeilpcca rfrcgeliie gqwhhlvlvm
     1201 skgmlknsta alyidgqlvn tvklhyvhst pggsgsanpp vvstvyayig tppaqrqias
     1261 lvwrlgpthf leevlpssnv ttiyelgpny vgsfqavcmp ckdaksegvv pspvslvpee
     1321 kvsfglyals vssltvarir kvynkldska iakqlgissh enatpvklih nsaghlngsa
     1381 rtigaaligy lgvrtfvpkp vattlqyvgg aaailglvam asdveglyaa vkalvcvvks
     1441 nplaskemer ikgyqllaml lkkkrsllns hilhltfslv gtvdsghets iipnstafqd
     1501 llcdfevwlh apyelhlslf ehfielltes seasknaklm refqlipkll ltlrdmslsq
     1561 ptiaaisnvl sfllqgfpss ndllrfgqfi sstlptfavc ekfvvmeinn eekldtgtee
     1621 efgglvsanl illrnrlldi llkliytske ktsinlqace elvktlgfdw immfmeehlh
     1681 sttvtaamri lvvllsnqsi likfkeglsg ggwleqtdsv ltnkigtvlg fnvgrsaggr
     1741 stvreinrda chfpgfpvlq sflpkhtnvp alyfllmalf lqqpvselpe nlqvsvpvis
     1801 crskqgcqfd ldsiwtfifg vpassgtvvs sihnvcteav flllgmlrsm ltspwqseee
     1861 gswlreypvt lmqffrylyh nvpdlasmwm spdflcalaa tvfpfnirpy semvtdldde
     1921 vgspaeefka faadtgmnrs qseycnvgtk tyltnhpakk fvfdfmrvli idnlcltpas
     1981 kqtplidlll easperstrt qqkefqtyil dsvmdhllaa dvllgedasl pitsggsyqv
     2041 lvnnvfyftq rvvdklwqgm fnkeskllid fiiqliaqsk rrsqglslda vyhclnrtil
     2101 yqfsrahktv pqqvalldsl rvltvnrnli lgpgnhdqef isclahclin lhvgsnvdgf
     2161 gleaearmtt whimipsdie pdgsysqdis egrqllikav nrvwtelihs kkqvleelfk
     2221 vtlpvnergh vdiatarpli eeaalkcwqn hlahekkcis rgealapttq sklsrvssgf
     2281 glskltgsrr nrkesglnkh slstqeisqw mfthiavvrd lvdtqykeyq erqqnalkyv
     2341 teewcqiece llrerglwgp pigshldkwm lemtegpcrm rkkmvrndmf ynhypyvpet
     2401 eqetnvasei pskqpetpdd ipqkkparyr ravsydskey ymrlasgnpa ivqdaivess
     2461 egeaaqqepe hgedtiakvk glvkpplkrs rsapdggdee nqeqlqdqia egssieeeek
     2521 tdnatllrll eegekiqhmy rcarvqgldt seglllfgke hfyvidgftm tatreirdie
     2581 tlppnmhepi iprgarqgps qlkrtcsifa yedikevhkr ryllqpiave vfsgdgrnyl
     2641 lafqkgirnk vyqrflavvp sltdssesvs gqrpntsveq gsgllstlvg eksvtqrwer
     2701 geisnfqylm hlntlagrsy ndlmqypvfp wiladydsee vdltnpktfr nlakpmgaqt
     2761 derlaqykkr ykdwedpnge tpayhygthy ssamivasyl vrmepftqif lrlqgghfdl
     2821 adrmfhsvre awysaskhnm advkelipef fylpeflfns nnfdlgckqn gtklgdvilp
     2881 pwakgdpref irvhrealec dyvsahlhew idlifgykqq gpaaveavnv fhhlfyegqv
     2941 diynindplk etatigfinn fgqipkqlfk kphppkrvrs rlngdnagis vlpgstsdki
     3001 ffhhldnlrp sltpvkelke pvgqivctdk gilaveqnkv lipptwnktf awgyadlscr
     3061 lgtyesdkam tvyeclsewg qilcaicpnp klvitggtst vvcvwemgts kekaktvtlk
     3121 qallghtdtv tcataslayh iivsgsrdrt ciiwdlnkls fltqlrghra pvsalcinel
     3181 tgdivscagt yihvwsingn pivsvntftg rsqqiicccm semnewdtqn vivtghsdgv
     3241 vrfwrmeflq vpetpapepa evlemqedcp eaqigqeaqd edssdseade qsisqdpkdt
     3301 psqpsstshr praascrata awctdsgsdd srrwsdqlsl dekdgfifvn ysegqtrahl
     3361 qgplshphpn pievrnysrl kpgyrwerql vfrskltmht afdrkdnahp aevtalgisk
     3421 dhsrilvgds rgrvfswsvs dqpgrsaadh wvkdeggdsc sgcsvrfslt errhhcrncg
     3481 qlfcqkcsrf qseikrlkis spvrvcqncy ynlqhergse dgprnc
//
LOCUS       XP_054205435            1586 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor L3 isoform X1 [Homo sapiens].
ACCESSION   XP_054205435
VERSION     XP_054205435.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349460.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1586
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1586
                     /product="adhesion G protein-coupled receptor L3 isoform
                     X1"
                     /calculated_mol_wt=176703
     CDS             1..1586
                     /gene="ADGRL3"
                     /gene_synonym="CIRL3; CL3; LEC3; LPHN3"
                     /coded_by="XM_054349460.1:3359..8119"
                     /db_xref="GeneID:23284"
                     /db_xref="HGNC:HGNC:20974"
                     /db_xref="MIM:616417"
ORIGIN      
        1 mwpsqllifm mllapiihgg khserhpala aplrhaersp ggalpprhll qqpaaertaa
       61 hrgqgprgat rgvrgpgaqg aqiaaqafsr apipmavvrr elscesypie lrcpgtdvim
      121 iesanygrtd dkicdsdpaq menircylpd aykimsqrcn nrtqcavvag pdvfpdpcpg
      181 tykylevqye cvpykveqkv flcpgllkgv yqsehlfesd hqsgawckdp lqasdkiyym
      241 pwtpyrtdtl teysskddfi agrptttykl phrvdgtgfv vydgalffnk ertrnivkfd
      301 lrtriksgea iiananyhdt spyrwggksd idlavdengl wviyateqnn gkivisqlnp
      361 ytlriegtwd taydkrsasn afmicgilyv vksvyedddn eatgnkidyi yntdqskdsl
      421 vdvpfpnsyq yiaavdynpr dnllyvwnny hvvkysldfg pldsrsgqah hgqvsyispp
      481 ihldselerp svkdisttgp lgmgstttst tlrtttlspg rsttpsvsgr rnrststpsp
      541 avevlddmtt hlpsassqip aleesceave areimwfktr qgqiakqpcp agtigvstyl
      601 clapdgiwdp qgpdlsncss pwvnhitqkl ksgetaania relaeqtrnh lnagditysv
      661 ramdqlvgll dvqlrnltpg gkdsaarsln klqkrerscr ayvqamvetv nnllqpqaln
      721 awrdlttsdq lraatmllht veesafvlad nllktdivre ntdnikleva rlstegnled
      781 lkfpenmghg stiqlsantl kqngrngeir vafvlynnlg pylstenasm klgtealstn
      841 hsvivnspvi taainkefsn kvyladpvvf tvkhikqsee nfnpncsfws yskrtmtgyw
      901 stqgcrlltt nkthttcscn hltnfavlma hvevkhsdav hdllldvitw vgillslvcl
      961 liciftfcff rglqsdrnti hknlcislfv aellfligin rtdqpiacav faallhfffl
     1021 aaftwmfleg vqlyimlvev fesehsrrky fylvgygmpa livavsaavd yrsygtdkvc
     1081 wlrldtyfiw sfigpatlii mlnviflgia lykmfhhtai lkpesgcldn inyednrpfi
     1141 kswvigaial lcllgltwaf glmyinestv imaylftifn slqgmfifif hcvlqkkvrk
     1201 eygkclrthc csgkstessi gsgktsgsrt pgrystgsqs rirrmwndtv rkqsessfit
     1261 gdinssasln rgamanhlis nallrphgtn npyntllgep avcnnpsvsm ynaqepyret
     1321 kgllnnardt svmdtlplng nhgnsysias geylsncvqi idrgynhnet alekkilkel
     1381 tsnyipsyln nhersseqnr nlmnklvnnl gsgreddaiv lddatsfnhe eslglelihe
     1441 esdapllppr vystenhqph hytrrripqd hsesffpllt nehtedlqsp hrdslytsmp
     1501 tlagvaates vttstqtepp pakcgdaedv yyksmpnlgs rnhvhqlhty yqlgrgssdg
     1561 fivppnkdgt ppegsskgpa hlvtsl
//
LOCUS       XP_054206526             880 aa            linear   PRI 20-MAR-2023
DEFINITION  storkhead-box protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054206526
VERSION     XP_054206526.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350551.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..880
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..880
                     /product="storkhead-box protein 2 isoform X3"
                     /calculated_mol_wt=97197
     CDS             1..880
                     /gene="STOX2"
                     /coded_by="XM_054350551.1:9806..12448"
                     /db_xref="GeneID:56977"
                     /db_xref="HGNC:HGNC:25450"
                     /db_xref="MIM:617359"
ORIGIN      
        1 mfgqkkhkhg dvspismspi sqsqfiplge ilclaisamn sarkpvtqea lmehlttcfp
       61 gvptpsqeil rhtlntlvre rkiyptpdgy fivtpqtyfi tpslirtnsk wyhlderipd
      121 rsqctspqpg titpsasgcv rertlprnhc dschccredv hsthaptlqr ksakdckdpy
      181 cppslcqvpp tekskstvnf syktetlskp kdsekqskkf glklfrlsfk kdktkqlanf
      241 saqfppeewp lrdedtpati prevemeiir rinpdltven vmrhtalmkk leeekaqrsk
      301 agssahhsgr skksrthrks hgksrshskt rvskgdpsdg shldipaere ydfcdpltrv
      361 pregcfiieh kgdnfimhsn tnvleshfpm tpewdvsgel akrrtempfp epsrgsshsk
      421 vhrshshtqd rrsrnersnk akersrsmdn skgplgassl gtpedlaegc sqddqtpsqs
      481 yiddstlrpa qtvslqrahi sstsykevci peivsgskep ssacsllepg kppeslpsyg
      541 elnscptkta tddyfqcnts setvltapsp lgknkedhdt ltlaegvkkl spsdrqvphs
      601 srepvghkee spkgpgggpa asggvaegia ngrlvqhhga epssldkrke ifskdtlfkp
      661 lhstlsvnsy hksslsllks hpktpadtlp grceklepsl gtsaaqampa sqrqqesggn
      721 qeasfdyynv sddddseega nknteeeknr edvgtmqwll erekerdlqr kfeknltlla
      781 pketdsssnq rathsarlds mdsssitvds gfnsprtres lasntssive snrrqnpals
      841 pahggagpaf nfrasaeppt neaeklqkps nclqasvtsv
//
LOCUS       XP_054207620             852 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Shroom1 isoform X1 [Homo sapiens].
ACCESSION   XP_054207620
VERSION     XP_054207620.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351645.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..852
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..852
                     /product="protein Shroom1 isoform X1"
                     /calculated_mol_wt=90655
     CDS             1..852
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /coded_by="XM_054351645.1:1349..3907"
                     /db_xref="GeneID:134549"
                     /db_xref="HGNC:HGNC:24084"
                     /db_xref="MIM:611179"
ORIGIN      
        1 mealgpggdr aspasstssl dlwhlsmrad sayssfsaas ggpeprtqsp gtdllpyldw
       61 dyvrvvwggp gpappdaalc tsprprpava arsgpqptev pgtpgplnrq atpllyalaa
      121 eaeaaaqaae ppsppasraa yrqrlqgaqr rvlretsfqr kelrmslpar lrptvparpp
      181 athprsasls hpggegepar srapapgtag rgplanqqrk wcfsepgkld rvgrgggpar
      241 eclgeacsss glpgpeplef qhpalakfed hevgwlpetq pqgsmnldsg slklgdafrp
      301 asrsrsasge vlgswggsgg tipivqavpq gaetprplfq tklsrflpqk eaavmypael
      361 pqsspadseq rvsetcivpa wlpslpdevf leeaplvrmr sppdphasqg ppasvhasdq
      421 pygtglgqrt gqvtvpteyp lhecpgtaga ddcwqgvngs vgisrptsht ptgtandnip
      481 tidptglttn pptaaesdll kpvpadalgl sgndtpgpsh ntalargtgq pgsrptwpsq
      541 cleelvqela rldpslcdpl asqpspeppl glldglipla evraamrpac geageeaast
      601 fepgsyqfsf tqllpapree trlenpathp vldqpcgqgl papnnsiqgk kvelaarlqk
      661 mlqdlhteqe rlqgeaqawa rrqaaleaav rqacapqele rfsrfmadle rvlglllllg
      721 srlarvrral araasdsdpd eqasllqrlr llqrqeedak elkehvarre ravrevlvra
      781 lpveelrvyc allagkaavl aqqrnlderi rllqdqldai rddlghhaps psparppgtc
      841 ppvqppfpll lt
//
LOCUS       XP_054208090             779 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 26 isoform X2 [Homo sapiens].
ACCESSION   XP_054208090
VERSION     XP_054208090.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352115.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..779
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..779
                     /product="rho GTPase-activating protein 26 isoform X2"
                     /calculated_mol_wt=87921
     CDS             1..779
                     /gene="ARHGAP26"
                     /gene_synonym="GRAF; GRAF1; OPHN1L; OPHN1L1"
                     /coded_by="XM_054352115.1:104..2443"
                     /db_xref="GeneID:23092"
                     /db_xref="HGNC:HGNC:17073"
                     /db_xref="MIM:605370"
ORIGIN      
        1 meralprgrc lplgkdlssa krkfadslne fkfqcigdae tddemciars lqefatvlrn
       61 lederirmie nasevlitpl ekfrkeqiga akeakkkydk etekycgile khlnlsskkk
      121 esqlqeadsq vdlvrqhfye vsleyvfkvq evqerkmfef vepllaflqg lftfyhhgye
      181 lakdfgdfkt qltisiqntr nrfegtrsev eslmkkmken plehktispy tmegylyvqe
      241 krhfgtswvk hyctyqrdsk qitmvpfdqk sggkggedes vilksctrrk tdsiekrfcf
      301 dveavdrpgv itmqalseed rrlwmeamdg repvynsnkd sqsegtaqld sigfsiirkc
      361 ihavetrgin eqglyrivgv nsrvqkllsv lmdpktaset etdicaewei ktitsalkty
      421 lrmlpgplmm yqfqrsfika aklenqesrv seihslvhrl peknrqmlql lmnhlanvan
      481 nhkqnlmtva nlgvvfgptl lrpqeetvaa imdikfqniv ieilienhek ifntvpdmpl
      541 tnaqlhlsrk kssdskppsc serpltlfht vqstekqeqr nsiinssles vssnpnsiln
      601 sssslqpnmn ssdpdlavvk ptrpnslppn psptsplsps wpmfsapssp mptsstssds
      661 spvrsvagfv wfsvaavvls larsslhavf sllvnfvpch pnlhllfdrp eeavhedsst
      721 pfrkakalya ckaehdsels ftagtvfdne cpsastaift atpklrappp ltwalplaa
//
LOCUS       XP_054208475             363 aa            linear   PRI 20-MAR-2023
DEFINITION  chondroitin sulfate synthase 3 isoform X6 [Homo sapiens].
ACCESSION   XP_054208475
VERSION     XP_054208475.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352500.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..363
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..363
                     /product="chondroitin sulfate synthase 3 isoform X6"
                     /calculated_mol_wt=39770
     CDS             1..363
                     /gene="CHSY3"
                     /gene_synonym="CHSY2; CSS3"
                     /coded_by="XM_054352500.1:366..1457"
                     /db_xref="GeneID:337876"
                     /db_xref="HGNC:HGNC:24293"
                     /db_xref="MIM:609963"
ORIGIN      
        1 mavrsrrpwm svalglvlgf taaswliapr vaelserkrr gsslcsyygr saagpragaq
       61 qplpqpqsrp rqeqspppar qdlqgpplpe aapgitsfrs spwqqppplq qrrrgrepeg
      121 atglpgapaa egepeeedgg aagqrrdgrp gsshngsgdg gaaapsarpr dflyvgvmta
      181 qkylgsrala aqrtwarfip grveffssqq ppnagqpppp lpvialpgvd dsyppqkksf
      241 mmikymhdhy ldkyewfmra dddvyikgdk leeflrslns skplylgqtg lgnieelgkl
      301 glepgenfcm ggpgmifsre vlrrmvphig eclremytth edvevgrcvr rfggtqcvws
      361 yes
//
LOCUS       XP_054209503             292 aa            linear   PRI 20-MAR-2023
DEFINITION  butyrophilin-like protein 8 isoform X6 [Homo sapiens].
ACCESSION   XP_054209503
VERSION     XP_054209503.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353528.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..292
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..292
                     /product="butyrophilin-like protein 8 isoform X6"
                     /calculated_mol_wt=33355
     CDS             1..292
                     /gene="BTNL8"
                     /gene_synonym="BTN9.2"
                     /coded_by="XM_054353528.1:153..1031"
                     /db_xref="GeneID:79908"
                     /db_xref="HGNC:HGNC:26131"
                     /db_xref="MIM:615606"
ORIGIN      
        1 malmlslvls llklgsdtff episwhlatk vlgilccglf fgivglkiff skfqwkiqae
       61 ldwrrkhgqa elrdarkhav evtldpetah pklcvsdlkt vthrkapqev phsekrftrk
      121 svvasqsfqa gkhywevdgg hnkrwrvgvc rddvdrrkey vtlspdhgyw vlrlngehly
      181 ftlnprfisv fprtpptkig vfldyecgti sffnindqsl iytltcrfeg llrpyieyps
      241 yneqngtpiv icpvtqesek easwqrasai petsnsesss qattpflprg em
//
LOCUS       XP_054211506             521 aa            linear   PRI 20-MAR-2023
DEFINITION  differentially expressed in FDCP 6 homolog isoform X1 [Homo
            sapiens].
ACCESSION   XP_054211506
VERSION     XP_054211506.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355531.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..521
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..521
                     /product="differentially expressed in FDCP 6 homolog
                     isoform X1"
                     /calculated_mol_wt=60840
     CDS             1..521
                     /gene="DEF6"
                     /gene_synonym="IBP; IMD87; SLAT; SWAP70L"
                     /coded_by="XM_054355531.1:182..1747"
                     /db_xref="GeneID:50619"
                     /db_xref="HGNC:HGNC:2760"
                     /db_xref="MIM:610094"
ORIGIN      
        1 mrlwepdral pgvgagnttc csyqafllll qveyllkkvl ssmslevslg eleellaqea
       61 qvaqttggls vwqflelfns grclrgvgrd tlsmaihevy qeliqdvlkq gylwkrghlr
      121 rnwaerwfql qpsclcyfgs eeckekrgii pldahccvev lpdrdgkrcm fcvktanrty
      181 emsasdtrqr qewtaaiqma irlqaegkts lhkdlkqkrr eqreqrerrr aakeeellrl
      241 qqlqeekerk lqelellqea qrqaerllqe eeerrrsqhr elqqalegql reaeqarasm
      301 qaemelkeee aarqrqrike leemqqrlqe alqlevkarr deesvriaqt rlleeeeekl
      361 kqlmqlkeeq eryieraqqe keelqqemaq qsrslqqaqq qleevrqnrq radedveaaq
      421 rklrqastnv khwnvqmnrl mhpiepgdkr pvtsssfsgf qppllahrds slkrltrwgs
      481 qgnrtpspns neqqkslngg deapapastp qedkldpape n
//
LOCUS       XP_054212102             152 aa            linear   PRI 20-MAR-2023
DEFINITION  bcl-2 homologous antagonist/killer isoform X3 [Homo sapiens].
ACCESSION   XP_054212102
VERSION     XP_054212102.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356127.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..152
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..152
                     /product="bcl-2 homologous antagonist/killer isoform X3"
                     /calculated_mol_wt=16906
     CDS             1..152
                     /gene="BAK1"
                     /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1"
                     /coded_by="XM_054356127.1:64..522"
                     /db_xref="GeneID:578"
                     /db_xref="HGNC:HGNC:949"
                     /db_xref="MIM:600516"
ORIGIN      
        1 mvtlplqpss tmgqvgrqla iigddinrry dsefqtmlqh lqptaenaye yftkiatslf
       61 esginwgrvv allgfgyrla lhvyqhgltg flgqvtrfvv dfmlhhciar wiaqrggwva
      121 alnlgngpil nvlvvlgvvl lgqfvvrrff ks
//
LOCUS       XP_054212429             506 aa            linear   PRI 20-MAR-2023
DEFINITION  FERM domain-containing protein 1 isoform X6 [Homo sapiens].
ACCESSION   XP_054212429
VERSION     XP_054212429.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356454.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..506
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..506
                     /product="FERM domain-containing protein 1 isoform X6"
                     /calculated_mol_wt=57275
     CDS             1..506
                     /gene="FRMD1"
                     /gene_synonym="bA164L23.1"
                     /coded_by="XM_054356454.1:60..1580"
                     /db_xref="GeneID:79981"
                     /db_xref="HGNC:HGNC:21240"
ORIGIN      
        1 mqsagadpgn grdglgtqgc praaaqpgat aagrgdneyi fmdleqklsk yfskdwkker
       61 negnekprap fvaflrvqhy vengrvisdh rarhlyychl kervlrsqca hreeayflla
      121 acalqadlge hresahagry fephsyfpqw iitkrgidyi lrhmptlhre rqglspkeam
      181 lcfiqeacrl edvpvhffrl hkdkkegrpt vilglalrgv hiyqevdrap qllydlpwph
      241 vgklaflgkk leiqldglpa aqklvyytgc twrsrhllhl lrashqlhlr vrptlqqlrq
      301 reeaeekqhy resyisdele ldlasrsfpg sgvssqhcph clsrhsadsh gssytsgika
      361 nswlresrem svdvplevhg lhekepsssp rtsrshpstr gdsqatrqep ctqvrtrgqs
      421 aeavhqiqem tagvseeqhs hglddmqlhq lalhpaptsl shtfhraldc rlagpcetra
      481 tlpskrssnc laldlfgeap pqefvv
//
LOCUS       XP_054212825             197 aa            linear   PRI 20-MAR-2023
DEFINITION  autophagy protein 5 isoform X2 [Homo sapiens].
ACCESSION   XP_054212825
VERSION     XP_054212825.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356850.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..197
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..197
                     /product="autophagy protein 5 isoform X2"
                     /calculated_mol_wt=22800
     CDS             1..197
                     /gene="ATG5"
                     /gene_synonym="APG5; APG5-LIKE; APG5L; ASP; hAPG5; SCAR25"
                     /coded_by="XM_054356850.1:327..920"
                     /db_xref="GeneID:9474"
                     /db_xref="HGNC:HGNC:589"
                     /db_xref="MIM:604261"
ORIGIN      
        1 mhypigllfd llasssalpw nitvhfksfp ekdllhcpsk daieahfmsc mkeadalkhk
       61 sqvinemqkk dhkqlwmglq ndrfdqfwai nrklmeypae engfryipfr iyqttterpf
      121 iqklfrpvaa dgqlhtlgdl lkevcpsaid pedgekknqv mihgiepmle tplqwlsehl
      181 sypdnflhis iipqptd
//
LOCUS       XP_054214308             709 aa            linear   PRI 20-MAR-2023
DEFINITION  dual specificity calcium/calmodulin-dependent 3',5'-cyclic
            nucleotide phosphodiesterase 1C isoform X4 [Homo sapiens].
ACCESSION   XP_054214308
VERSION     XP_054214308.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358333.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..709
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..709
                     /product="dual specificity calcium/calmodulin-dependent
                     3',5'-cyclic nucleotide phosphodiesterase 1C isoform X4"
                     /calculated_mol_wt=80630
     CDS             1..709
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /coded_by="XM_054358333.1:428..2557"
                     /db_xref="GeneID:5137"
                     /db_xref="HGNC:HGNC:8776"
                     /db_xref="MIM:602987"
ORIGIN      
        1 mesptkeiee fesnslkylq peqiekiwlr lrglrkykkt sqrlrslvkq lergeasvvd
       61 lkknleyaat vlesvyidet rrlldtedel sdiqsdavps evrdwlastf trqmgmmlrr
      121 sdekprfksi vhavqagifv ermyrrtsnm vglsyppavi ealkdvdkws fdvfslneas
      181 gdhalkfify elltrydlis rfkipisalv sfvealevgy skhknpyhnl mhaadvtqtv
      241 hyllyktgva nwlteleifa iifsaaihdy ehtgttnnfh iqtrsdpail yndrsvlenh
      301 hlsaayrllq ddeemnilin lskddwrefr tlviemvmat dmschfqqik amktalqqpe
      361 aiekpkalsl mlhtadishp akawdlhhrw tmslleeffr qgdreaelgl pfsplcdrks
      421 tmvaqsqvgf idfiveptft vltdmtekiv splidetsqt ggtgqrrssl nsisssdakr
      481 sgvktsgseg sapinnsvis vdyksfkatw tevvhinrer wrakvpkeek akkeaeekar
      541 laaeeqqkem eaksqaeega sgkaekktsg etknqvngtr anksdnprgk nskaekssge
      601 qqqngdfkdg knktdkkdhs nigndskktd gtkqrshgsp apstsstcrl tlpvikpplr
      661 hfkrpayass syapsvskkt dehparykml dqrikmkkiq nishnwnrk
//
LOCUS       XP_054214849             798 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase B-raf isoform X1 [Homo sapiens].
ACCESSION   XP_054214849
VERSION     XP_054214849.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358874.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..798
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..798
                     /product="serine/threonine-protein kinase B-raf isoform
                     X1"
                     /calculated_mol_wt=88452
     CDS             1..798
                     /gene="BRAF"
                     /gene_synonym="B-raf; B-RAF1; BRAF-1; BRAF1; NS7; RAFB1"
                     /coded_by="XM_054358874.1:227..2623"
                     /db_xref="GeneID:673"
                     /db_xref="HGNC:HGNC:1097"
                     /db_xref="MIM:164757"
ORIGIN      
        1 maalsggggg gaepgqalfn gdmepeagag agaaassaad paipeevwni kqmikltqeh
       61 iealldkfgg ehnppsiyle ayeeytskld alqqreqqll eslgngtdfs vsssasmdtv
      121 tsssssslsv lpsslsvfqn ptdvarsnpk spqkpivrvf lpnkqrtvvp arcgvtvrds
      181 lkkalmmrgl ipeccavyri qdgekkpigw dtdiswltge elhvevlenv pltthnfvrk
      241 tfftlafcdf crkllfqgfr cqtcgykfhq rcstevplmc vnydqldllf vskffehhpi
      301 pqeeaslaet altsgsspsa pasdsigpqi ltspspsksi pipqpfrpad edhrnqfgqr
      361 drsssapnvh intiepvnid dlirdqgfrg dgaplnqlmr clrkyqsrtp spllhsvpse
      421 ivfdfepgpv frgsttglsa tppaslpgsl tnvkalqksp gpqrerksss ssedrnrmkt
      481 lgrrdssddw eipdgqitvg qrigsgsfgt vykgkwhgdv avkmlnvtap tpqqlqafkn
      541 evgvlrktrh vnillfmgys tkpqlaivtq wcegsslyhh lhiietkfem iklidiarqt
      601 aqgmdylhak siihrdlksn niflhedltv kigdfglatv ksrwsgshqf eqlsgsilwm
      661 apevirmqdk npysfqsdvy afgivlyelm tgqlpysnin nrdqiifmvg rgylspdlsk
      721 vrsncpkamk rlmaeclkkk rderplfpqe nlqpssshhh gsicsyflsl vfvqfvnikt
      781 qfcssnlflk iqnfqcis
//
LOCUS       XP_054216584             262 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of microtubule dynamics protein 1 isoform X30 [Homo
            sapiens].
ACCESSION   XP_054216584
VERSION     XP_054216584.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360609.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..262
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..262
                     /product="regulator of microtubule dynamics protein 1
                     isoform X30"
                     /calculated_mol_wt=29782
     CDS             1..262
                     /gene="RMDN1"
                     /gene_synonym="CGI-90; FAM82B; RMD-1; RMD1"
                     /coded_by="XM_054360609.1:67..855"
                     /db_xref="GeneID:51115"
                     /db_xref="HGNC:HGNC:24285"
                     /db_xref="MIM:611871"
ORIGIN      
        1 malaarlwrl lpfrrgaapg srlpagtsgs rghcgpcrfr gfevmgnpgt fkrglllsal
       61 sylgfetyqv isqaavvhat akveeileqa dylyesgete klyqlltqyk esedaellwr
      121 larasrdvaq lsrtseeekk llvyealeya kralekness fashkkaiel npkdatsihl
      181 mgiwcytfae mpwyqrriak mlfatppsst yekalgyfhr aeqgktylkl hnkklaafwl
      241 mkakdypaht eedkqvkrnr ss
//
LOCUS       XP_054216819             149 aa            linear   PRI 20-MAR-2023
DEFINITION  bridging integrator 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054216819
VERSION     XP_054216819.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360844.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..149
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..149
                     /product="bridging integrator 3 isoform X2"
                     /calculated_mol_wt=17313
     CDS             1..149
                     /gene="BIN3"
                     /coded_by="XM_054360844.1:71..520"
                     /db_xref="GeneID:55909"
                     /db_xref="HGNC:HGNC:1054"
                     /db_xref="MIM:606396"
ORIGIN      
        1 mswipfkigq pkkqivpktv erdfereygk lqqleeqtrr lqkdmkkstd adlamsksav
       61 kisldllsnp lceqdqdlln mvtaldtamk rmdafnqekv nqiqktviep lkkrnqlfws
      121 wvtsewpqsh elpglrsril dtaglwlaw
//
LOCUS       XP_054219740             584 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 189 isoform X1 [Homo sapiens].
ACCESSION   XP_054219740
VERSION     XP_054219740.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363765.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 18% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..584
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..584
                     /product="zinc finger protein 189 isoform X1"
                     /calculated_mol_wt=68057
     CDS             1..584
                     /gene="ZNF189"
                     /coded_by="XM_054363765.1:463..2217"
                     /db_xref="GeneID:7743"
                     /db_xref="HGNC:HGNC:12980"
                     /db_xref="MIM:603132"
ORIGIN      
        1 mmenygnlvs ldvlnrdkde eptvkqeiee ieeevepqgv ivtrikseid qdpmgretfe
       61 lvgrldkqrg iflweipres ltqeqrmfre ntniirkrpn seekchkcee cgkgfvrkah
      121 fiqhqrvhtg ekpfqcnecg ksfsrssfvi ehqrihtger pyecnycgkt fsvsstlirh
      181 qrihtgerpy qcnqckqsfs qrrslvkhqr ihtgekphkc sdcgkafswk shliehqrth
      241 tgekpyhctk ckksfsrnsl lvehqrihtg erphkcgecg kafrlstyli qhqkihtgek
      301 pflciecgks fsrssflieh qrihtgerpy qckecgksfs qlcnltrhqr ihtgdkphkc
      361 eecgkafsrs sgliqhqrih trektypyne tkesfdpncs lviqqevypk eksykcdecg
      421 ktfsvsahlv qhqrihtgek pylctvcgks fsrssflieh qrihtgerpy lcrqcgksfs
      481 qlcnlirhqg vhtgnkphkc decgkafsrn sgliqhqrih tgekpykcek cdksfsqqrs
      541 lvnhqkihae vktqethecd acgeafncri sliqhqklht awmq
//
LOCUS       XP_054182632            1574 aa            linear   PRI 20-MAR-2023
DEFINITION  nik-related protein kinase isoform X1 [Homo sapiens].
ACCESSION   XP_054182632
VERSION     XP_054182632.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326657.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1574
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1574
                     /product="nik-related protein kinase isoform X1"
                     /calculated_mol_wt=177445
     CDS             1..1574
                     /gene="NRK"
                     /gene_synonym="NESK"
                     /coded_by="XM_054326657.1:308..5032"
                     /db_xref="GeneID:203447"
                     /db_xref="HGNC:HGNC:25391"
                     /db_xref="MIM:300791"
ORIGIN      
        1 magpggwrdr evtdlghlpd ptgifsldkt iglgtygriy lglhektgaf tavkvmnark
       61 tplpeigrrv rvnkyqksvg wrysdeeedl rtelnllrky sfhknivsfy gaffklsppg
      121 qrhqlwmvme lcaagsvtdv vrmtsnqslk edwiayicre ilqglahlha hrvihrdikg
      181 qnvllthnae vklvdfgvsa qvsrtngrrn sfigtpywma pevidcdedp rrsydyrsdv
      241 wsvgitaiem aegapplcnl qplealfvil resaptvkss gwsrkfhnfm ekctiknflf
      301 rptsanmlqh pfvrdikner hvvesltrhl tgiikkrqkk gipliferee aikeqytvrr
      361 frgpscthel lrlptssrcr plrvlhgeps qprwlpdree pqvqalqqlq gaarvfmplq
      421 aldsapkplk gqaqapqrlq gaarvfmplq aqvkakaskp lqmqikappr lrraarvlmp
      481 lqaqvraprl lqvqsqvskk qqaqtqtsep qdldqvpeef qgqdqvpeqq rqgqapeqqq
      541 rhnqvpeqel eqnqapeqpe vqeqaaepaq aeteaeepes lrvnaqvflp llsqdhhvll
      601 plhldtqvli pvegqtegsp qaqawtlepp qaigsvqali eglsrdllra pnsnnskplg
      661 plqtlmenls snrfysqpeq arekkskvst lrqalakrls pkrfrakssw rpeklelsdl
      721 earrqrrqrr wedifnqhee elrqvdkdke dessdndevf hsiqaevqie plkpyisnpk
      781 kievqersps vpnnqdhahh vkfsssvpqr slleqaqkpi dirqrssqnr qnwlaasess
      841 seeespvtgr rsqssppyst idqkllvdih vpdgfkvgki sppvyltnew vgynalseif
      901 rndwltpapv iqppeedgdy velydasadt dgddddesnd tfedtydhan gnddldnqvd
      961 qandvckdhd ddnnkfvddv nnnyyeapsc prasygrdgs ckqdgydgsr gkeeayrgyg
     1021 shtanrshgg saasednaai gdqeehaani gserrgsegd ggkgvvrtse esgalglnge
     1081 encsetdgpg lkrpasqdfe ylqeepgggn easnaidsga apsapdhesd nkdisesstq
     1141 sdfsanhssp skgsgmsada nfasailyag fvevpeespk qpsevnvnpl yvspackkpl
     1201 ihmyekefts eiccgslwgv nlllgtrsnl ylmdrsgkad itklirrrpf rqiqvlepln
     1261 llitisghkn rlrvyhltwl rnkilnndpe skrrqeemlk teeackaidk ltgcehfsvl
     1321 qheettyiai alkssihlya wapksfdest aikvcidqsa dsegdymsyq ayirilakiq
     1381 aadpvnrfkr pdellhllkl kvfptldhkp vtvdlaigse krlkiffssa dgyhlidaes
     1441 evmsdvtlpk nniiilpdcl gigmmltfna ealsveaneq lfkkilemwk dipssiafec
     1501 tqrttgwgqk aievrslqsr vleselkrrs ikklrflctr gdklfftstl rnhhsrvyfm
     1561 tlgkleelqs nydv
//
LOCUS       NP_001374211             224 aa            linear   PRI 21-MAR-2023
DEFINITION  high affinity immunoglobulin epsilon receptor subunit alpha isoform
            2 precursor [Homo sapiens].
ACCESSION   NP_001374211
VERSION     NP_001374211.1
DBSOURCE    REFSEQ: accession NM_001387282.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 224)
  AUTHORS   Zhou C, Li M, Liu Y, Wang X, Zhang S, Guan L, Hong J, Zhou W, Wu G,
            Diao W, Huang Q and Yang P.
  TITLE     Signals from the TAFA4-PTEN-PU.1 axis alleviate nasal allergy by
            modulating the expression of FcepsilonRI in mast cells
  JOURNAL   Clin Exp Immunol 211 (1), 15-22 (2023)
   PUBMED   36368013
  REMARK    GeneRIF: Signals from the TAFA4-PTEN-PU.1 axis alleviate nasal
            allergy by modulating the expression of FcepsilonRI in mast cells.
REFERENCE   2  (residues 1 to 224)
  AUTHORS   Jo H, Shim K and Jeoung D.
  TITLE     The Crosstalk between FcepsilonRI and Sphingosine Signaling in
            Allergic Inflammation
  JOURNAL   Int J Mol Sci 23 (22), 13892 (2022)
   PUBMED   36430378
  REMARK    GeneRIF: The Crosstalk between FcepsilonRI and Sphingosine
            Signaling in Allergic Inflammation.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 224)
  AUTHORS   Sur S, Nguyen M, Boada P, Sigdel TK, Sollinger H and Sarwal MM.
  TITLE     FcER1: A Novel Molecule Implicated in the Progression of Human
            Diabetic Kidney Disease
  JOURNAL   Front Immunol 12, 769972 (2021)
   PUBMED   34925339
  REMARK    GeneRIF: FcER1: A Novel Molecule Implicated in the Progression of
            Human Diabetic Kidney Disease.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 224)
  AUTHORS   Andiappan AK, Puan KJ, Lee B, Yeow PT, Yusof N, Merid SK, Kumar D,
            Lum J, Foo S, Koh G, Poidinger M, Zolezzi F, Wang Y, Melen E and
            Rotzschke O.
  CONSRTM   eQTLGen Consortium; BIOS Consortium
  TITLE     Inverse association of FCER1A allergy variant in monocytes and
            plasmacytoid dendritic cells
  JOURNAL   J Allergy Clin Immunol 147 (4), 1510-1513 (2021)
   PUBMED   33160967
  REMARK    GeneRIF: Inverse association of FCER1A allergy variant in monocytes
            and plasmacytoid dendritic cells.
REFERENCE   5  (residues 1 to 224)
  AUTHORS   Roshanizadeh Z, Ghandil P, Khodadadi A, Tavakol H, Kambiz AA and
            Ghadiri A.
  TITLE     Genetic association study of CTLA4 and FCepsilonRIalpha
            polymorphisms in asthmatic patients in the southwestern region of
            Iran
  JOURNAL   Nucleosides Nucleotides Nucleic Acids 40 (9), 914-925 (2021)
   PUBMED   34420484
  REMARK    GeneRIF: Genetic association study of CTLA4 and FCepsilonRIalpha
            polymorphisms in asthmatic patients in the southwestern region of
            Iran.
REFERENCE   6  (residues 1 to 224)
  AUTHORS   Potaczek,D.P., Nastalek,M., Wojas-Pelc,A., Okumura,K., Undas,A. and
            Nishiyama,C.
  TITLE     Naturally occurring FCER1A N222K mutation - its ethnicity-dependent
            distribution and a role in atopic dermatitis
  JOURNAL   Mol Immunol 48 (8), 979-980 (2011)
   PUBMED   21216468
  REMARK    GeneRIF: Data indicate that although results rather show the lack
            of an association between FCER1A rs41264475 mutation and atopic
            dermatitis, they suggest that its minor allele can predispose to
            the concomitant asthma in AD patients.
REFERENCE   7  (residues 1 to 224)
  AUTHORS   Kuster H, Zhang L, Brini AT, MacGlashan DW and Kinet JP.
  TITLE     The gene and cDNA for the human high affinity immunoglobulin E
            receptor beta chain and expression of the complete human receptor
  JOURNAL   J Biol Chem 267 (18), 12782-12787 (1992)
   PUBMED   1535625
REFERENCE   8  (residues 1 to 224)
  AUTHORS   Padlan EA and Helm BA.
  TITLE     A modeling study of the alpha-subunit of human high-affinity
            receptor for immunoglobulin-E
  JOURNAL   Receptor 2 (2), 129-144 (1992)
   PUBMED   1472946
REFERENCE   9  (residues 1 to 224)
  AUTHORS   Wang B, Rieger A, Kilgus O, Ochiai K, Maurer D, Fodinger D, Kinet
            JP and Stingl G.
  TITLE     Epidermal Langerhans cells from normal human skin bind monomeric
            IgE via Fc epsilon RI
  JOURNAL   J Exp Med 175 (5), 1353-1365 (1992)
   PUBMED   1533243
REFERENCE   10 (residues 1 to 224)
  AUTHORS   Le Coniat M, Kinet JP and Berger R.
  TITLE     The human genes for the alpha and gamma subunits of the mast cell
            receptor for immunoglobulin E are located on human chromosome band
            1q23
  JOURNAL   Immunogenetics 32 (3), 183-186 (1990)
   PUBMED   2146219
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL513323.14.
            
            Summary: The immunoglobulin epsilon receptor (IgE receptor) is the
            initiator of the allergic response. When two or more high-affinity
            IgE receptors are brought together by allergen-bound IgE molecules,
            mediators such as histamine that are responsible for allergy
            symptoms are released. This receptor is comprised of an alpha
            subunit, a beta subunit, and two gamma subunits. The protein
            encoded by this gene represents the alpha subunit. [provided by
            RefSeq, Aug 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BG542157.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..224
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2"
     Protein         1..224
                     /product="high affinity immunoglobulin epsilon receptor
                     subunit alpha isoform 2 precursor"
                     /note="Fc IgE receptor, alpha polypeptide; immunoglobulin
                     E receptor, high-affinity, of mast cells, alpha
                     polypeptide; Fc-epsilon RI-alpha; Fc fragment of IgE, high
                     affinity I, receptor for; alpha polypeptide; high affinity
                     immunoglobulin epsilon receptor alpha-subunit; Fc fragment
                     of IgE receptor Ia; FcepsilonRIalpha; FcepsilonRI alpha
                     chain; high affinity immunoglobulin epsilon receptor
                     subunit alpha; Fc epsilon RI alpha-chain; igE Fc receptor
                     subunit alpha"
                     /calculated_mol_wt=23265
     sig_peptide     1..25
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2578
     Region          6..75
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          8..12
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          28..32
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          43..47
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          57..62
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          68..71
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          79..161
                     /region_name="Ig2_FcgammaR_like"
                     /note="Second immunoglobulin (Ig)-like domain of
                     Fcgamma-receptors (FcgammaRs), and similar domains;
                     cd05753"
                     /db_xref="CDD:409411"
     Site            order(79,102,108..109)
                     /site_type="other"
                     /note="Fc binding site [polypeptide binding]"
                     /db_xref="CDD:409411"
     Region          79..83
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409411"
     Region          88..90
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409411"
     Site            order(92..94,103,108,147)
                     /site_type="other"
                     /note="pentraxin binding site [polypeptide binding]"
                     /db_xref="CDD:409411"
     Region          94..101
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409411"
     Region          108..114
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409411"
     Region          117..122
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409411"
     Region          126..130
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409411"
     Region          140..145
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409411"
     Region          151..161
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409411"
     CDS             1..224
                     /gene="FCER1A"
                     /gene_synonym="FCE1A; FcERI; FCERIA"
                     /coded_by="NM_001387282.1:30..704"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS91081.1"
                     /db_xref="GeneID:2205"
                     /db_xref="HGNC:HGNC:3609"
                     /db_xref="MIM:147140"
ORIGIN      
        1 mapamesptl lcvallffap dgvlavsstk wfhngslsee tnsslnivna kfedsgeykc
       61 qhqqvnesep vylevfsdwl llqasaevvm egqplflrch gwrnwdvykv iyykdgealk
      121 ywyenhnisi tnatvedsgt yyctgkvwql dyeseplnit vikaprekyw lqffipllvv
      181 ilfavdtglf istqqqvtfl lkikrtrkgf rllnphpkpn pknn
//
LOCUS       NP_001291269             801 aa            linear   PRI 17-APR-2023
DEFINITION  lysine-specific demethylase 4C isoform 6 [Homo sapiens].
ACCESSION   NP_001291269
VERSION     NP_001291269.1
DBSOURCE    REFSEQ: accession NM_001304340.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 801)
  AUTHORS   Staehle AM, Peeken JC, Vladimirov G, Hoeness ME, Bojtine Kovacs S,
            Karantzelis N, Gruender A, Koellerer C, Jutzi JS, Pahl HL and
            Staehle HF.
  TITLE     The histone demethylase JMJD2C constitutes a novel NFE2 target gene
            that is required for the survival of JAK2V617F mutated cells
  JOURNAL   Leukemia 37 (4), 919-923 (2023)
   PUBMED   36709354
  REMARK    GeneRIF: The histone demethylase JMJD2C constitutes a novel NFE2
            target gene that is required for the survival of JAK2[V617F]
            mutated cells.
REFERENCE   2  (residues 1 to 801)
  AUTHORS   Lopez C, Schleussner N, Bernhart SH, Kleinheinz K, Sungalee S,
            Sczakiel HL, Kretzmer H, Toprak UH, Glaser S, Wagener R, Ammerpohl
            O, Bens S, Giefing M, Sanchez JCG, Apic G, Hubschmann D, Janz M,
            Kreuz M, Mottok A, Muller JM, Seufert J, Hoffmann S, Korbel JO,
            Russell RB, Schule R, Trumper L, Klapper W, Radlwimmer B, Lichter
            P, Kuppers R, Schlesner M, Mathas S and Siebert R.
  TITLE     Focal structural variants revealed by whole genome sequencing
            disrupt the histone demethylase KDM4C in B-cell lymphomas
  JOURNAL   Haematologica 108 (2), 543-554 (2023)
   PUBMED   35522148
  REMARK    GeneRIF: Focal structural variants revealed by whole genome
            sequencing disrupt the histone demethylase KDM4C in B-cell
            lymphomas.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 801)
  AUTHORS   Close K and Fitzgibbon J.
  TITLE     KDM4C in germinal center lymphoma: a new piece of the epigenetic
            puzzle
  JOURNAL   Haematologica 108 (2), 297-298 (2023)
   PUBMED   35484653
  REMARK    GeneRIF: KDM4C in germinal center lymphoma: a new piece of the
            epigenetic puzzle.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 801)
  AUTHORS   Pan HC, Chen YH, Fang WC, Wu VC and Sun CY.
  TITLE     Essential Roles of the Histone Demethylase KDM4C in Renal
            Development and Acute Kidney Injury
  JOURNAL   Int J Mol Sci 23 (16), 9318 (2022)
   PUBMED   36012577
  REMARK    GeneRIF: Essential Roles of the Histone Demethylase KDM4C in Renal
            Development and Acute Kidney Injury.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 801)
  AUTHORS   Li Q, Qu B, Shen H, Deng H and Sun L.
  TITLE     Histone Demethylase GASC1 Inhibitor Targeted GASC1 Gene to Inhibit
            the Malignant Transformation of Esophageal Cancer through the
            NOTCH-MAPK Signaling Pathway
  JOURNAL   Ann Clin Lab Sci 52 (2), 240-248 (2022)
   PUBMED   35414503
  REMARK    GeneRIF: Histone Demethylase GASC1 Inhibitor Targeted GASC1 Gene to
            Inhibit the Malignant Transformation of Esophageal Cancer through
            the NOTCH-MAPK Signaling Pathway.
REFERENCE   6  (residues 1 to 801)
  AUTHORS   Berry WL and Janknecht R.
  TITLE     KDM4/JMJD2 histone demethylases: epigenetic regulators in cancer
            cells
  JOURNAL   Cancer Res 73 (10), 2936-2942 (2013)
   PUBMED   23644528
  REMARK    Review article
REFERENCE   7  (residues 1 to 801)
  AUTHORS   Cloos PA, Christensen J, Agger K, Maiolica A, Rappsilber J, Antal
            T, Hansen KH and Helin K.
  TITLE     The putative oncogene GASC1 demethylates tri- and dimethylated
            lysine 9 on histone H3
  JOURNAL   Nature 442 (7100), 307-311 (2006)
   PUBMED   16732293
  REMARK    GeneRIF: GASC1 interacts with H3K9me3; three members of this
            subfamily of proteins demethylate H3K9me3/me2 in vitro through a
            hydroxylation reaction requiring iron and alpha-ketoglutarate as
            cofactors
REFERENCE   8  (residues 1 to 801)
  AUTHORS   Whetstine JR, Nottke A, Lan F, Huarte M, Smolikov S, Chen Z,
            Spooner E, Li E, Zhang G, Colaiacovo M and Shi Y.
  TITLE     Reversal of histone lysine trimethylation by the JMJD2 family of
            histone demethylases
  JOURNAL   Cell 125 (3), 467-481 (2006)
   PUBMED   16603238
REFERENCE   9  (residues 1 to 801)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of JMJD2 family genes in silico
  JOURNAL   Int J Oncol 24 (6), 1623-1628 (2004)
   PUBMED   15138608
REFERENCE   10 (residues 1 to 801)
  AUTHORS   Yang ZQ, Imoto I, Fukuda Y, Pimkhaokham A, Shimada Y, Imamura M,
            Sugano S, Nakamura Y and Inazawa J.
  TITLE     Identification of a novel gene, GASC1, within an amplicon at
            9p23-24 frequently detected in esophageal cancer cell lines
  JOURNAL   Cancer Res 60 (17), 4735-4739 (2000)
   PUBMED   10987278
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354707.17, AL445592.15,
            AL513412.3, AL137020.14 and AL161443.13.
            
            Summary: This gene is a member of the Jumonji domain 2 (JMJD2)
            family. The encoded protein is a trimethylation-specific
            demethylase, and converts specific trimethylated histone residues
            to the dimethylated form. This enzymatic action regulates gene
            expression and chromosome segregation. Chromosomal aberrations and
            changes in expression of this gene may be found in tumor cells.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2015].
            
            Sequence Note:.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK304095.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968540,
                                           SAMEA2142586 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..801
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.1"
     Protein         1..801
                     /product="lysine-specific demethylase 4C isoform 6"
                     /EC_number="1.14.11.66"
                     /note="lysine-specific demethylase 4C; JmjC
                     domain-containing histone demethylation protein 3C;
                     jumonji domain-containing protein 2C; [histone
                     H3]-trimethyl-L-lysine(9) demethylase 4C; gene amplified
                     in squamous cell carcinoma 1 protein; tudor domain
                     containing 14C; lysine (K)-specific demethylase 4C"
                     /calculated_mol_wt=91106
     Region          1..112
                     /region_name="JmjC"
                     /note="JmjC domain, hydroxylase; pfam02373"
                     /db_xref="CDD:396791"
     Region          389..491
                     /region_name="PHD_JMJD2C"
                     /note="PHD finger found in Jumonji domain-containing
                     protein 2C (JMJD2C); cd15577"
                     /db_xref="CDD:277052"
     Site            order(389,459..463,467,486)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277052"
     Region          500..609
                     /region_name="PHD_SF"
                     /note="PHD finger superfamily; cl22851"
                     /db_xref="CDD:451427"
     Site            order(554,569..572,578,604)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:276966"
     Region          624..677
                     /region_name="Tudor_JMJD2C_rpt1"
                     /note="first Tudor domain found in Jumonji
                     domain-containing protein 2C (JMJD2C) and similar
                     proteins; cd20465"
                     /db_xref="CDD:410536"
     Site            order(656..657,659..662,664)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410536"
     Region          681..740
                     /region_name="Tudor_JMJD2C_rpt2"
                     /note="second Tudor domain found in Jumonji
                     domain-containing protein 2C (JMJD2C) and similar
                     proteins; cd20468"
                     /db_xref="CDD:410539"
     Site            order(692..694,698)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410539"
     CDS             1..801
                     /gene="KDM4C"
                     /gene_synonym="GASC1; JHDM3C; JMJD2C; TDRD14C"
                     /coded_by="NM_001304340.4:616..3021"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="GeneID:23081"
                     /db_xref="HGNC:HGNC:17071"
                     /db_xref="MIM:605469"
ORIGIN      
        1 mwkttfawht edmdlysiny lhfgepkswy aippehgkrl erlaqgffps ssqgcdaflr
       61 hkmtlispsv lkkygipfdk itqeagefmi tfpygyhagf nhgfncaest nfatvrwidy
      121 gkvaklctcr kdmvkismdi fvrkfqpdry qlwkqgkdiy tidhtkptpa stpevkawlq
      181 rrrkvrkasr sfqcarstsk rpkadeeeev sdevdgaevp npdsvtddlk vsekseaavk
      241 lrnteassee essasrmqve qnlsdhikls gnsclstsvt edikteddka yayrsvpsis
      301 seaddsipls sgyekpeksd pselswpksp escssvaesn elpevlsiee eveeteswak
      361 plihlwqtks pnfaaeqeyn atvarmkphc aictllmpyh kpdssneend arwetkldev
      421 vtsegktkpl ipemcfiyse enieysppna fleedgtsll iscakccvrv hascygipsh
      481 eicdgwlcar ckrnawtaec clcnlrggal kqtknnkwah vmcavavpev rftnvpertq
      541 idvgriplqr lklkcifcrh rvkrvsgaci qcsygrcpas fhvtcahaag vlmepddwpy
      601 vvnitcfrhk vnpnvkskac ekvisvgqtv itkhrntryy scrvmavtsq tfyevmfddg
      661 sfsrdtfped ivsrdclklg ppaegevvqv kwpdgklyga kyfgsniahm yqvefedgsq
      721 iamkrediyt ldeelpkrvk arfstasdmr fedtfygadi iqgerkrqrv lssrfkneyv
      781 adpvyrtflk ssfqkkcqkr q
//
LOCUS       NP_009042                410 aa            linear   PRI 25-DEC-2022
DEFINITION  transcription factor Dp-1 [Homo sapiens].
ACCESSION   NP_009042
VERSION     NP_009042.1
DBSOURCE    REFSEQ: accession NM_007111.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 410)
  AUTHORS   Goos H, Kinnunen M, Salokas K, Tan Z, Liu X, Yadav L, Zhang Q, Wei
            GH and Varjosalo M.
  TITLE     Human transcription factor protein interaction networks
  JOURNAL   Nat Commun 13 (1), 766 (2022)
   PUBMED   35140242
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 410)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 410)
  AUTHORS   Morimoto Y, Mizushima T, Wu X, Okuzaki D, Yokoyama Y, Inoue A, Hata
            T, Hirose H, Qian Y, Wang J, Miyoshi N, Takahashi H, Haraguchi N,
            Matsuda C, Doki Y, Mori M and Yamamoto H.
  TITLE     miR-4711-5p regulates cancer stemness and cell cycle progression
            via KLF5, MDM2 and TFDP1 in colon cancer cells
  JOURNAL   Br J Cancer 122 (7), 1037-1049 (2020)
   PUBMED   32066912
  REMARK    GeneRIF: miR-4711-5p regulates cancer stemness and cell cycle
            progression via KLF5, MDM2 and TFDP1 in colon cancer cells.
REFERENCE   4  (residues 1 to 410)
  AUTHORS   Drucker E, Holzer K, Pusch S, Winkler J, Calvisi DF, Eiteneuer E,
            Herpel E, Goeppert B, Roessler S, Ori A, Schirmacher P, Breuhahn K
            and Singer S.
  TITLE     Karyopherin alpha2-dependent import of E2F1 and TFDP1 maintains
            protumorigenic stathmin expression in liver cancer
  JOURNAL   Cell Commun Signal 17 (1), 159 (2019)
   PUBMED   31783876
  REMARK    GeneRIF: It uncovered E2F1 and TFDP1 as transport substrates of
            KPNA2 being retained in the cytoplasm upon KPNA2 ablation, thereby
            resulting in reduced STMN1 expression.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 410)
  AUTHORS   Jibrim RLM, de Carvalho CV, Invitti AL and Schor E.
  TITLE     Expression of the TFDP1 gene in the endometrium of women with deep
            infiltrating endometriosis
  JOURNAL   Gynecol Endocrinol 35 (6), 490-493 (2019)
   PUBMED   30638096
  REMARK    GeneRIF: We observed a downregulation of TFDP1 in the endometrium
            cells of women with deep infiltrating endometriosis when compared
            to the controls
REFERENCE   6  (residues 1 to 410)
  AUTHORS   Zhang Y, Venkatraj VS, Fischer SG, Warburton D and Chellappan SP.
  TITLE     Genomic cloning and chromosomal assignment of the E2F dimerization
            partner TFDP gene family
  JOURNAL   Genomics 39 (1), 95-98 (1997)
   PUBMED   9027491
REFERENCE   7  (residues 1 to 410)
  AUTHORS   Hijmans EM, Voorhoeve PM, Beijersbergen RL, van 't Veer LJ and
            Bernards R.
  TITLE     E2F-5, a new E2F family member that interacts with p130 in vivo
  JOURNAL   Mol Cell Biol 15 (6), 3082-3089 (1995)
   PUBMED   7760804
REFERENCE   8  (residues 1 to 410)
  AUTHORS   Wu CL, Zukerberg LR, Ngwu C, Harlow E and Lees JA.
  TITLE     In vivo association of E2F and DP family proteins
  JOURNAL   Mol Cell Biol 15 (5), 2536-2546 (1995)
   PUBMED   7739537
REFERENCE   9  (residues 1 to 410)
  AUTHORS   Ginsberg D, Vairo G, Chittenden T, Xiao ZX, Xu G, Wydner KL,
            DeCaprio JA, Lawrence JB and Livingston DM.
  TITLE     E2F-4, a new member of the E2F transcription factor family,
            interacts with p107
  JOURNAL   Genes Dev 8 (22), 2665-2679 (1994)
   PUBMED   7958924
REFERENCE   10 (residues 1 to 410)
  AUTHORS   Hiebert SW, Chellappan SP, Horowitz JM and Nevins JR.
  TITLE     The interaction of RB with E2F coincides with an inhibition of the
            transcriptional activity of E2F
  JOURNAL   Genes Dev 6 (2), 177-185 (1992)
   PUBMED   1531329
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC011685.2 and AL442125.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of a family of transcription
            factors that heterodimerize with E2F proteins to enhance their
            DNA-binding activity and promote transcription from E2F target
            genes. The encoded protein functions as part of this complex to
            control the transcriptional activity of numerous genes involved in
            cell cycle progression from G1 to S phase. Alternative splicing
            results in multiple transcript variants. Pseudogenes of this gene
            are found on chromosomes 1, 15, and X.[provided by RefSeq, Jan
            2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.394999.1,
                                           SRR1163658.95258.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375370.10/ ENSP00000364519.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..410
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     Protein         1..410
                     /product="transcription factor Dp-1"
                     /note="E2F dimerization partner 1; DRTF1-polypeptide 1;
                     E2F-related transcription factor; down-regulated in liver
                     cancer stem cells"
                     /calculated_mol_wt=44939
     Site            3
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q14186.1)"
     Site            23
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14186.1)"
     Region          73..116
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14186.1)"
     Region          105..127
                     /region_name="Interaction with CEBPA.
                     /evidence=ECO:0000269|PubMed:20176812"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14186.1)"
     Region          113..193
                     /region_name="E2F_TDP"
                     /note="E2F/DP family winged-helix DNA-binding domain;
                     pfam02319"
                     /db_xref="CDD:426717"
     Region          161..195
                     /region_name="DEF box"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14186.1)"
     Site            order(198,202,205..206,208..209,212..213,215..216,
                     219..220,223,226..227,230,233..234,236..237,239..241,244,
                     255..266,268,279..287,289,291,293,299..300,302)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:271217"
     Region          198..244
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:271217"
     Region          200..338
                     /region_name="DP"
                     /note="Transcription factor DP; pfam08781"
                     /db_xref="CDD:430214"
     Region          204..277
                     /region_name="Dimerization. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14186.1)"
     Region          211..327
                     /region_name="Enhances binding of RB protein to E2F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14186.1)"
     Region          214..246
                     /region_name="DCB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14186.1)"
     Site            order(222,225..226,229,262,271,273,288..295,302)
                     /site_type="other"
                     /note="RbC binding site [polypeptide binding]"
                     /db_xref="CDD:271217"
     Region          259..315
                     /region_name="DCB2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14186.1)"
     Region          370..410
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14186.1)"
     CDS             1..410
                     /gene="TFDP1"
                     /gene_synonym="DILC; Dp-1; DP1; DRTF1"
                     /coded_by="NM_007111.5:201..1433"
                     /db_xref="CCDS:CCDS9538.1"
                     /db_xref="GeneID:7027"
                     /db_xref="HGNC:HGNC:11749"
                     /db_xref="MIM:189902"
ORIGIN      
        1 makdagliea ngelkvfidq nlspgkgvvs lvavhpstvn plgkqllpkt fgqsnvniaq
       61 qvvigtpqrp aasntlvvgs phtpsthfas qnqpsdsspw sagkrnrkge kngkglrhfs
      121 mkvcekvqrk gttsynevad elvaefsaad nhilpnesay dqknirrrvy dalnvlmamn
      181 iiskekkeik wiglptnsaq ecqnleverq rrlerikqkq sqlqelilqq iafknlvqrn
      241 rhaeqqasrp pppnsvihlp fiivntskkt vidcsisndk feylfnfdnt feihddievl
      301 krmgmacgle sgscsaedlk marslvpkal epyvtemaqg tvggvfitta gstsngtrfs
      361 asdltngadg mlatssngsq ysgsrvetpv syvgeddeed ddfnendedd
//
LOCUS       NP_001342115             349 aa            linear   PRI 27-DEC-2022
DEFINITION  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a [Homo
            sapiens].
ACCESSION   NP_001342115
VERSION     NP_001342115.1
DBSOURCE    REFSEQ: accession NM_001355186.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 349)
  AUTHORS   Gu Y, Chen Y, Wei L, Wu S, Shen K, Liu C, Dong Y, Zhao Y, Zhang Y,
            Zhang C, Zheng W, He J, Wang Y, Li Y, Zhao X, Wang H, Tan J, Wang
            L, Zhou Q, Xie G, Liang H and Ou J.
  TITLE     ABHD5 inhibits YAP-induced c-Met overexpression and colon cancer
            cell stemness via suppressing YAP methylation
  JOURNAL   Nat Commun 12 (1), 6711 (2021)
   PUBMED   34795238
  REMARK    GeneRIF: ABHD5 inhibits YAP-induced c-Met overexpression and colon
            cancer cell stemness via suppressing YAP methylation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 349)
  AUTHORS   Zhou T, Ni T, Li Y, Zhang Q, Yan J and Chen ZJ.
  TITLE     circFAM120A participates in repeated implantation failure by
            regulating decidualization via the miR-29/ABHD5 axis
  JOURNAL   FASEB J 35 (9), e21872 (2021)
   PUBMED   34449947
  REMARK    GeneRIF: circFAM120A participates in repeated implantation failure
            by regulating decidualization via the miR-29/ABHD5 axis.
REFERENCE   3  (residues 1 to 349)
  AUTHORS   Jiang X, Zhong W, Yu B, Lin Z and Wang H.
  TITLE     Two cases of Chanarin-Dorfman syndrome with novel and recurrent
            mutations in the ABHD5 gene
  JOURNAL   Int J Dermatol 60 (7), 904-906 (2021)
   PUBMED   33569812
  REMARK    GeneRIF: Two cases of Chanarin-Dorfman syndrome with novel and
            recurrent mutations in the ABHD5 gene.
REFERENCE   4  (residues 1 to 349)
  AUTHORS   Vieyres G, Reichert I, Carpentier A, Vondran FWR and Pietschmann T.
  TITLE     The ATGL lipase cooperates with ABHD5 to mobilize lipids for
            hepatitis C virus assembly
  JOURNAL   PLoS Pathog 16 (6), e1008554 (2020)
   PUBMED   32542055
  REMARK    GeneRIF: The ATGL lipase cooperates with ABHD5 to mobilize lipids
            for hepatitis C virus assembly.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 349)
  AUTHORS   Yu L, Li Y, Grise A and Wang H.
  TITLE     CGI-58: Versatile Regulator of Intracellular Lipid Droplet
            Homeostasis
  JOURNAL   Adv Exp Med Biol 1276, 197-222 (2020)
   PUBMED   32705602
  REMARK    GeneRIF: CGI-58: Versatile Regulator of Intracellular Lipid Droplet
            Homeostasis.
            Review article
REFERENCE   6  (residues 1 to 349)
  AUTHORS   Ben Selma,Z., Yilmaz,S., Schischmanoff,P.O., Blom,A., Ozogul,C.,
            Laroche,L. and Caux,F.
  TITLE     A novel S115G mutation of CGI-58 in a Turkish patient with
            Dorfman-Chanarin syndrome
  JOURNAL   J Invest Dermatol 127 (9), 2273-2276 (2007)
   PUBMED   17495960
  REMARK    GeneRIF: analysis of a novel S115G mutation of CGI-58 in a Turkish
            patient with Dorfman-Chanarin syndrome [case report]
REFERENCE   7  (residues 1 to 349)
  AUTHORS   Yamaguchi T, Omatsu N, Morimoto E, Nakashima H, Ueno K, Tanaka T,
            Satouchi K, Hirose F and Osumi T.
  TITLE     CGI-58 facilitates lipolysis on lipid droplets but is not involved
            in the vesiculation of lipid droplets caused by hormonal
            stimulation
  JOURNAL   J Lipid Res 48 (5), 1078-1089 (2007)
   PUBMED   17308334
  REMARK    GeneRIF: CGI-58 facilitates lipolysis in cooperation with perilipin
            and other factors, including lipases
REFERENCE   8  (residues 1 to 349)
  AUTHORS   Lass A, Zimmermann R, Haemmerle G, Riederer M, Schoiswohl G,
            Schweiger M, Kienesberger P, Strauss JG, Gorkiewicz G and Zechner
            R.
  TITLE     Adipose triglyceride lipase-mediated lipolysis of cellular fat
            stores is activated by CGI-58 and defective in Chanarin-Dorfman
            Syndrome
  JOURNAL   Cell Metab 3 (5), 309-319 (2006)
   PUBMED   16679289
  REMARK    GeneRIF: CGI-58 interacts with adipose triglyceride lipase,
            stimulating its TG hydrolase activity up to 20-fold
REFERENCE   9  (residues 1 to 349)
  AUTHORS   Schleinitz,N., Fischer,J., Sanchez,A., Veit,V., Harle,J.R. and
            Pelissier,J.F.
  TITLE     Two new mutations of the ABHD5 gene in a new adult case of Chanarin
            Dorfman syndrome: an uncommon lipid storage disease
  JOURNAL   Arch Dermatol 141 (6), 798-800 (2005)
   PUBMED   15967942
  REMARK    GeneRIF: ABDH5 gene mutation is found in patients diagnosed with
            Chanarin Dorfman syndrome.
REFERENCE   10 (residues 1 to 349)
  AUTHORS   Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R,
            Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozguc M, Lathrop
            M, Prud'homme JF and Fischer J.
  TITLE     Mutations in CGI-58, the gene encoding a new protein of the
            esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman
            syndrome
  JOURNAL   Am J Hum Genet 69 (5), 1002-1012 (2001)
   PUBMED   11590543
  REMARK    GeneRIF: mutational analysis in Chanarin-Dorfman syndrome
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG721387.1, AC105903.2 and
            BU622105.1.
            
            Summary: The protein encoded by this gene belongs to a large family
            of proteins defined by an alpha/beta hydrolase fold, and contains
            three sequence motifs that correspond to a catalytic triad found in
            the esterase/lipase/thioesterase subfamily. It differs from other
            members of this subfamily in that its putative catalytic triad
            contains an asparagine instead of the serine residue. Mutations in
            this gene have been associated with Chanarin-Dorfman syndrome, a
            triglyceride storage disease with impaired long-chain fatty acid
            oxidation. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2), as well as variant 1, encodes
            the longest isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.263200.1,
                                           SRR5189661.83455.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..349
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.33"
     Protein         1..349
                     /product="1-acylglycerol-3-phosphate O-acyltransferase
                     ABHD5 isoform a"
                     /EC_number="2.3.1.51"
                     /note="1-acylglycerol-3-phosphate O-acyltransferase ABHD5;
                     lipid droplet-binding protein CGI-58; abhydrolase
                     domain-containing protein 5"
                     /calculated_mol_wt=38965
     Region          1..345
                     /region_name="PLN02894"
                     /note="hydrolase, alpha/beta fold family protein"
                     /db_xref="CDD:215484"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8WTS1.1)"
     Site            122
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6QA69; propagated from
                     UniProtKB/Swiss-Prot (Q8WTS1.1)"
     Region          327..332
                     /region_name="HXXXXD motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WTS1.1)"
     CDS             1..349
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
                     /coded_by="NM_001355186.2:56..1105"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS2711.1"
                     /db_xref="GeneID:51099"
                     /db_xref="HGNC:HGNC:21396"
                     /db_xref="MIM:604780"
ORIGIN      
        1 maaeeeevds adtgersgwl tgwlptwcpt sishlkeaee kmlkcvpcty kkepvrisng
       61 nkiwtlkfsh nisnktplvl lhgfggglgl walnfgdlct nrpvyafdll gfgrssrprf
      121 dsdaeevenq fvesieewrc algldkmill ghnlggflaa ayslkypsrv nhlilvepwg
      181 fperpdladq drpipvwira lgaaltpfnp laglriagpf glslvqrlrp dfkrkyssmf
      241 eddtvteyiy hcnvqtpsge tafknmtipy gwakrpmlqr igkmhpdipv svifgarsci
      301 dgnsgtsiqs lrphsyvkti ailgaghyvy adqpeefnqk vkeicdtvd
//
LOCUS       NP_001259035             283 aa            linear   PRI 30-DEC-2022
DEFINITION  membrane progestin receptor delta isoform 4 [Homo sapiens].
ACCESSION   NP_001259035
VERSION     NP_001259035.1
DBSOURCE    REFSEQ: accession NM_001272106.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 283)
  AUTHORS   Yang M, Li JC, Tao C, Wu S, Liu B, Shu Q, Li B and Zhu R.
  TITLE     PAQR6 Upregulation Is Associated with AR Signaling and Unfavorite
            Prognosis in Prostate Cancers
  JOURNAL   Biomolecules 11 (9), 1383 (2021)
   PUBMED   34572596
  REMARK    GeneRIF: PAQR6 Upregulation Is Associated with AR Signaling and
            Unfavorite Prognosis in Prostate Cancers.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 283)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 283)
  AUTHORS   Pang Y, Dong J and Thomas P.
  TITLE     Characterization, neurosteroid binding and brain distribution of
            human membrane progesterone receptors delta and {epsilon} (mPRdelta
            and mPR{epsilon}) and mPRdelta involvement in neurosteroid
            inhibition of apoptosis
  JOURNAL   Endocrinology 154 (1), 283-295 (2013)
   PUBMED   23161870
  REMARK    GeneRIF: The results suggest that PAQR6 and PAQR9 (mPRdelta and
            mPRepsilon) function as mPRs coupled to G proteins and are
            potential intermediaries of nonclassical antiapoptotic actions of
            neurosteroids in the central nervous system.
REFERENCE   4  (residues 1 to 283)
  AUTHORS   Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura
            Y and Kamatani N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   5  (residues 1 to 283)
  AUTHORS   Smith JL, Kupchak BR, Garitaonandia I, Hoang LK, Maina AS, Regalla
            LM and Lyons TJ.
  TITLE     Heterologous expression of human mPRalpha, mPRbeta and mPRgamma in
            yeast confirms their ability to function as membrane progesterone
            receptors
  JOURNAL   Steroids 73 (11), 1160-1173 (2008)
   PUBMED   18603275
  REMARK    GeneRIF: PAQR6 is a previously uncharacterized PAQR which is also
            capable of responding to progesterone.
REFERENCE   6  (residues 1 to 283)
  AUTHORS   Kim JM, Lee KH, Jeon YJ, Oh JH, Jeong SY, Song IS, Kim JM, Lee DS
            and Kim NS.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
REFERENCE   7  (residues 1 to 283)
  AUTHORS   Tang YT, Hu T, Arterburn M, Boyle B, Bright JM, Emtage PC and Funk
            WD.
  TITLE     PAQR proteins: a novel membrane receptor family defined by an
            ancient 7-transmembrane pass motif
  JOURNAL   J Mol Evol 61 (3), 372-380 (2005)
   PUBMED   16044242
REFERENCE   8  (residues 1 to 283)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK295916.1, AA310453.1 and AL135927.14.
            
            Transcript Variant: This variant (5) has multiple differences and
            initiates translation at an alternate start codon, compared to
            variant 1. The resulting isoform (4) has a shorter and distinct
            N-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK295916.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..283
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     Protein         1..283
                     /product="membrane progestin receptor delta isoform 4"
                     /note="mPR delta; membrane progesterone receptor delta;
                     progestin and adipoQ receptor family member VI; membrane
                     progesterone P4 receptor delta; progesterone and adipoQ
                     receptor family member 6; membrane progestin receptor
                     delta"
                     /calculated_mol_wt=30621
     CDS             1..283
                     /gene="PAQR6"
                     /gene_synonym="PRdelta"
                     /coded_by="NM_001272106.2:585..1436"
                     /note="isoform 4 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS72946.1"
                     /db_xref="GeneID:79957"
                     /db_xref="HGNC:HGNC:30132"
                     /db_xref="MIM:614579"
ORIGIN      
        1 mpptpcrppg ctatctsslc lpphstpsca paspatpvsw swkalgsvrs saqepspihs
       61 csttshsfig lapgrfdyig egtpgparee agadafpehr mnwatatsys tsvqcwapts
      121 swrqcwliwd haepgwphrn lpwawqaqwp hwswlqlgty sllllsqppc fgppvhalcc
      181 rvahwrgvpr pnnseapslt lswrgqrpgp sadeeprfgp nqvgthlsle ptgaeerghr
      241 regreeegcl gglaecerdr egaldgsgrs aeglrgemha cpg
//
LOCUS       NP_002947               1427 aa            linear   PRI 30-DEC-2022
DEFINITION  CAP-Gly domain-containing linker protein 1 isoform a [Homo
            sapiens].
ACCESSION   NP_002947
VERSION     NP_002947.1
DBSOURCE    REFSEQ: accession NM_002956.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1427)
  AUTHORS   Thakkar PV, Kita K, Castillo UD, Galletti G, Madhukar N, Navarro
            EV, Barasoain I, Goodson HV, Sackett D, Diaz JF, Lu Y, RoyChoudhury
            A, Molina H, Elemento O, Shah MA and Giannakakou P.
  TITLE     CLIP-170S is a microtubule +TIP variant that confers resistance to
            taxanes by impairing drug-target engagement
  JOURNAL   Dev Cell 56 (23), 3264-3275 (2021)
   PUBMED   34672971
  REMARK    GeneRIF: CLIP-170S is a microtubule +TIP variant that confers
            resistance to taxanes by impairing drug-target engagement.
REFERENCE   2  (residues 1 to 1427)
  AUTHORS   Izumi H, Matsumoto S, Liu J, Tanaka K, Mori S, Hayashi K, Kumagai
            S, Shibata Y, Hayashida T, Watanabe K, Fukuhara T, Ikeda T, Yoh K,
            Kato T, Nishino K, Nakamura A, Nakachi I, Kuyama S, Furuya N,
            Sakakibara-Konishi J, Okamoto I, Taima K, Ebi N, Daga H, Yamasaki
            A, Kodani M, Udagawa H, Kirita K, Zenke Y, Nosaki K, Sugiyama E,
            Sakai T, Nakai T, Ishii G, Niho S, Ohtsu A, Kobayashi SS and Goto
            K.
  TITLE     The CLIP1-LTK fusion is an oncogenic driver in non-small-cell lung
            cancer
  JOURNAL   Nature 600 (7888), 319-323 (2021)
   PUBMED   34819663
  REMARK    GeneRIF: The CLIP1-LTK fusion is an oncogenic driver in
            non-small-cell lung cancer.
REFERENCE   3  (residues 1 to 1427)
  AUTHORS   Karki P, Ke Y, Zhang CO, Li Y, Tian Y, Son S, Yoshimura A, Kaibuchi
            K, Birukov KG and Birukova AA.
  TITLE     SOCS3-microtubule interaction via CLIP-170 and CLASP2 is critical
            for modulation of endothelial inflammation and lung injury
  JOURNAL   J Biol Chem 296, 100239 (2021)
   PUBMED   33372035
  REMARK    GeneRIF: SOCS3-microtubule interaction via CLIP-170 and CLASP2 is
            critical for modulation of endothelial inflammation and lung
            injury.
REFERENCE   4  (residues 1 to 1427)
  AUTHORS   Henrie H, Bakhos-Douaihy D, Cantaloube I, Pilon A, Talantikite M,
            Stoppin-Mellet V, Baillet A, Pous C and Benoit B.
  TITLE     Stress-induced phosphorylation of CLIP-170 by JNK promotes
            microtubule rescue
  JOURNAL   J Cell Biol 219 (7) (2020)
   PUBMED   32491151
  REMARK    GeneRIF: Stress-induced phosphorylation of CLIP-170 by JNK promotes
            microtubule rescue.
REFERENCE   5  (residues 1 to 1427)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 1427)
  AUTHORS   Griparic L and Keller TC.
  TITLE     Identification and expression of two novel CLIP-170/Restin isoforms
            expressed predominantly in muscle
  JOURNAL   Biochim Biophys Acta 1405 (1-3), 35-46 (1998)
   PUBMED   9784600
REFERENCE   7  (residues 1 to 1427)
  AUTHORS   Pierre P, Pepperkok R and Kreis TE.
  TITLE     Molecular characterization of two functional domains of CLIP-170 in
            vivo
  JOURNAL   J Cell Sci 107 (Pt 7), 1909-1920 (1994)
   PUBMED   7983157
REFERENCE   8  (residues 1 to 1427)
  AUTHORS   Hilliker C, Delabie J, Speleman F, Bilbe G, Bruggen J, Van Leuven F
            and Van den Berghe H.
  TITLE     Localization of the gene (RSN) coding for restin, a marker for
            Reed-Sternberg cells in Hodgkin's disease, to human chromosome band
            12q24.3 and YAC cloning of the locus
  JOURNAL   Cytogenet Cell Genet 65 (3), 172-176 (1994)
   PUBMED   8222754
REFERENCE   9  (residues 1 to 1427)
  AUTHORS   Pierre P, Scheel J, Rickard JE and Kreis TE.
  TITLE     CLIP-170 links endocytic vesicles to microtubules
  JOURNAL   Cell 70 (6), 887-900 (1992)
   PUBMED   1356075
REFERENCE   10 (residues 1 to 1427)
  AUTHORS   Bilbe G, Delabie J, Bruggen J, Richener H, Asselbergs FA, Cerletti
            N, Sorg C, Odink K, Tarcsay L, Wiesendanger W et al.
  TITLE     Restin: a novel intermediate filament-associated protein highly
            expressed in the Reed-Sternberg cells of Hodgkin's disease
  JOURNAL   EMBO J 11 (6), 2103-2113 (1992)
   PUBMED   1600942
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC127002.3, M97501.1, X64838.1
            and AK126990.1.
            
            Summary: The protein encoded by this gene links endocytic vesicles
            to microtubules. This gene is highly expressed in Reed-Sternberg
            cells of Hodgkin disease. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2011].
            
            Transcript Variant: This variant (1) lacks an alternate in-frame
            exon compared to variant 3. The resulting isoform (a) has the same
            N- and C-termini but is shorter compared to isoform c.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.342204.1,
                                           SRR14038196.1647734.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1427
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     Protein         1..1427
                     /product="CAP-Gly domain-containing linker protein 1
                     isoform a"
                     /note="restin (Reed-Steinberg cell-expressed intermediate
                     filament-associated protein); cytoplasmic linker protein
                     1; cytoplasmic linker protein 170 alpha-2; cytoplasmic
                     linker protein CLIP-170"
                     /calculated_mol_wt=160860
     Site            48
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P30622.2)"
     Site            50
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30622.2)"
     Region          60..124
                     /region_name="CAP_GLY"
                     /note="CAP-Gly domain; pfam01302"
                     /db_xref="CDD:426191"
     Region          97..101
                     /region_name="Important for tubulin binding.
                     /evidence=ECO:0000269|PubMed:17889670"
                     /note="propagated from UniProtKB/Swiss-Prot (P30622.2)"
     Region          129..188
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P30622.2)"
     Site            140
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P30622.2)"
     Site            143
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P30622.2)"
     Site            147
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P30622.2)"
     Site            182
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30622.2)"
     Site            195
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P30622.2)"
     Site            197
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P30622.2)"
     Site            200
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P30622.2)"
     Site            204
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P30622.2)"
     Region          214..278
                     /region_name="CAP_GLY"
                     /note="CAP-Gly domain; pfam01302"
                     /db_xref="CDD:426191"
     Region          302..340
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P30622.2)"
     Site            310
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JK25; propagated from
                     UniProtKB/Swiss-Prot (P30622.2)"
     Site            312
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000250|UniProtKB:Q9JK25; propagated from
                     UniProtKB/Swiss-Prot (P30622.2)"
     Site            315
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q922J3; propagated from
                     UniProtKB/Swiss-Prot (P30622.2)"
     Site            348
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JK25; propagated from
                     UniProtKB/Swiss-Prot (P30622.2)"
     Region          <352..1153
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          976..995
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P30622.2)"
     Region          1012..>1334
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Site            1225
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JK25; propagated from
                     UniProtKB/Swiss-Prot (P30622.2)"
     Region          1287..1308
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P30622.2)"
     Site            1299
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P30622.2)"
     Site            1353
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P30622.2)"
     Region          1365..1382
                     /region_name="CLIP1_ZNF"
                     /note="CLIP1 zinc knuckle; pfam16641"
                     /db_xref="CDD:435484"
     Region          1384..1403
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P30622.2)"
     Region          1405..1421
                     /region_name="CLIP1_ZNF"
                     /note="CLIP1 zinc knuckle; pfam16641"
                     /db_xref="CDD:435484"
     CDS             1..1427
                     /gene="CLIP1"
                     /gene_synonym="CLIP; CLIP-170; CLIP170; CYLN1; RSN"
                     /coded_by="NM_002956.3:256..4539"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9232.1"
                     /db_xref="GeneID:6249"
                     /db_xref="HGNC:HGNC:10461"
                     /db_xref="MIM:179838"
ORIGIN      
        1 msmlkpsglk aptkilkpgs talktptavv apvektisse kasstpsset qeefvddfrv
       61 gervwvngnk pgfiqflget qfapgqwagi vldepigknd gsvagvryfq ceplkgiftr
      121 pskltrkvqa edeanglqtt pasratsplc tstasmvsss pstpsnipqk psqpaakeps
      181 atppisnltk tasesisnls eagsikkger elkigdrvlv ggtkagvvrf lgetdfakge
      241 wcgveldepl gkndgavagt ryfqcqpkyg lfapvhkvtk igfpsttpak akanavrrvm
      301 attsaslkrs psasslssms svassvssrp srtglltets sryarkisgt talqealkek
      361 qqhieqllae rdleraevak atshvgeieq elalardghd qhvleleakm dqlrtmveaa
      421 drekvellnq leeekrkved lqfrveeesi tkgdletqtk leharikele qsllfektka
      481 dklqreledt rvatvseksr imelekdlal rvqevaelrr rlesnkpagd vdmslsllqe
      541 isslqeklev trtdhqreit slkehfgare ethqkeikal ytateklske neslkskleh
      601 ankensdvia lwkskletai ashqqameel kvsfskglgt etaefaelkt qiekmrldyq
      661 heienlqnqq dseraahake mealraklmk vikekensle airskldkae dqhlvemedt
      721 lnklqeaeik vkelevlqak cneqtkvidn ftsqlkatee klldldalrk assegksemk
      781 klrqqleaae kqikhleiek naesskassi trelqgrelk ltnlqenlse vsqvketlek
      841 elqilkekfa easeeavsvq rsmqetvnkl hqkeeqfnml ssdleklren ladmeakfre
      901 kdereeqlik akeklendia eimkmsgdns sqltkmndel rlkerdveel qlkltkanen
      961 asflqksied mtvkaeqsqq eaakkheeek kelerklsdl ekkmetshnq cqelkaryer
     1021 atsetktkhe eilqnlqktl ldtedklkga reensgllqe leelrkqadk akaaqtaeda
     1081 mqimeqmtke ktetlasled tkqtnaklqn eldtlkennl knveelnksk elltvenqkm
     1141 eefrkeietl kqaaaqksqq lsalqeenvk laeelgrsrd evtshqklee ersvlnnqll
     1201 emkkreskfi kdadeekasl qksisitsal ltekdaelek lrnevtvlrg enasakslhs
     1261 vvqtlesdkv klelkvknle lqlkenkrql ssssgntdtq adederaqes qidflnsviv
     1321 dlqrknqdlk mkvemmseaa lngngddlnn ydsddqekqs kkkprlfcdi cdcfdlhdte
     1381 dcptqaqmse dpphsthhgs rgeerpycei cemfghwatn cnddetf
//
LOCUS       XP_047280636             420 aa            linear   PRI 20-MAR-2023
DEFINITION  C-terminal-binding protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_047280636
VERSION     XP_047280636.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424680.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..420
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..420
                     /product="C-terminal-binding protein 2 isoform X2"
                     /calculated_mol_wt=45828
     Region          9..327
                     /region_name="CtBP_dh"
                     /note="C-terminal binding protein (CtBP),
                     D-isomer-specific 2-hydroxyacid dehydrogenases related
                     repressor; cd05299"
                     /db_xref="CDD:240624"
     Site            order(78,81..82,247,296,299)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:240624"
     Site            order(81,109,161..162,164..166,184..188,217..219,221,224,
                     245..247,271..272,296,298..299)
                     /site_type="other"
                     /note="NAD binding site [chemical binding]"
                     /db_xref="CDD:240624"
     Site            order(247,276,296)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:240624"
     CDS             1..420
                     /gene="CTBP2"
                     /coded_by="XM_047424680.1:94..1356"
                     /db_xref="GeneID:1488"
                     /db_xref="HGNC:HGNC:2495"
                     /db_xref="MIM:602619"
ORIGIN      
        1 mngplhprpl valldgrdct vempilkdla tvafcdaqst qeihekvlne avgammyhti
       61 tltredlekf kalrvivrig sgydnvdika agelgiavcn ipsaaveeta dstichilnl
      121 yrrntwlyqa lregtrvqsv eqirevasga arirgetlgl igfgrtgqav avrakafgfs
      181 vifydpylqd gierslgvqr vytlqdllyq sdcvslhcnl nehnhhlind ftikqmrqga
      241 flvnaarggl vdekalaqal kegrirgaal dvhesepfsf aqgplkdapn lictphtawy
      301 seqaslemre aaateirrai tgripeslrn cvnkeffvts apwsvidqqa ihpelngaty
      361 ryppgivgva pgglpaameg iipggipvth nlptvahpsq apspnqptkh gdnrehpneq
//
LOCUS       XP_047284813             147 aa            linear   PRI 20-MAR-2023
DEFINITION  microsomal glutathione S-transferase 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047284813
VERSION     XP_047284813.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428857.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..147
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..147
                     /product="microsomal glutathione S-transferase 1 isoform
                     X2"
                     /calculated_mol_wt=16466
     Region          16..>76
                     /region_name="MAPEG"
                     /note="MAPEG family; pfam01124"
                     /db_xref="CDD:426065"
     CDS             1..147
                     /gene="MGST1"
                     /gene_synonym="GST12; MGST; MGST-I; PMAN"
                     /coded_by="XM_047428857.1:144..587"
                     /db_xref="GeneID:4257"
                     /db_xref="HGNC:HGNC:7061"
                     /db_xref="MIM:138330"
ORIGIN      
        1 mvdltqvmdd evfmafasya tiilskmmlm statafyrlt rkvfanpedc vafgkgenak
       61 kylrtddrve rvrraqeilg perqiqknlh vnetgvemrm agnawkqtcn clmawssksq
      121 rmecngmisa hrnlclpdss dspasas
//
LOCUS       XP_011528311             615 aa            linear   PRI 20-MAR-2023
DEFINITION  hypermethylated in cancer 2 protein isoform X1 [Homo sapiens].
ACCESSION   XP_011528311
VERSION     XP_011528311.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011530009.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..615
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..615
                     /product="hypermethylated in cancer 2 protein isoform X1"
                     /calculated_mol_wt=66025
     Region          25..144
                     /region_name="BTB_POZ_ZBTB30_HIC2"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in hypermethylated
                     in cancer 2 protein (Hic-2); cd18334"
                     /db_xref="CDD:349643"
     Region          444..464
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          503..>552
                     /region_name="SUF4-like"
                     /note="N-terminal domain of Oryza sativa transcription
                     factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana
                     SUF4 (AtSUF4), and similar proteins; cd20908"
                     /db_xref="CDD:411020"
     Region          507..527
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          507..527
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(512,518,525,526,534,541)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411020"
     Region          533..555
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          535..555
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          535..552
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Site            order(540,542,544,546..547,550..551,554,568,570,574..575,
                     578..579,582,596,598,600,602..603,606..607,610)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          559..>613
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          563..583
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          576..600
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          591..611
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..615
                     /gene="HIC2"
                     /gene_synonym="HRG22; ZBTB30; ZNF907"
                     /coded_by="XM_011530009.2:1867..3714"
                     /db_xref="GeneID:23119"
                     /db_xref="HGNC:HGNC:18595"
                     /db_xref="MIM:607712"
ORIGIN      
        1 mvsgplalrw cawagrgdmg pdmelpshsk qlllqlnqqr tkgflcdvii mvensifrah
       61 knvlaassiy fkslvlhdnl inldtdmvss tvfqqildfi ytgkllpsdq paepnfstll
      121 taasylqlpe laalcrrklk ragkpfgsgr agstgmgrpp rsqrlstasv iqaryqglvd
      181 grkgahapqe lpqakgsdde lflggsnqds vqglgravcp aggeaglggc ssstngssgg
      241 ceqelgldls kkspplppat pgphltpdda aqlsdsqhgs ppaasappva nsasyselgg
      301 tpdepmdleg aednhlslle apggqprksl rhstrkkewg kkepvagspf erreagpkgp
      361 cpgeegegvg drvpngilas gagpsgpyge ppypckeeee ngkdasedsa qsgseggsgh
      421 asahymyrqe gyetvsygdn lyvcipcakg fpsseqlnah vethteeelf ikeegayetg
      481 sggaeeeaed lsapsaayta eprpfkcsvc ektykdpatl rqhekthwlt rpfpcnicgk
      541 mftqrgtmtr hmrshlglkp facdecgmrf trqyrltehm rvhsgekpye cqlcggkftq
      601 qrnlishlrm htsps
//
LOCUS       XP_047304252             269 aa            linear   PRI 20-MAR-2023
DEFINITION  PHD finger protein 7 isoform X3 [Homo sapiens].
ACCESSION   XP_047304252
VERSION     XP_047304252.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448296.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..269
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..269
                     /product="PHD finger protein 7 isoform X3"
                     /calculated_mol_wt=30964
     Region          33..144
                     /region_name="ePHD_PHF7_G2E3_like"
                     /note="Extended PHD finger found in PHD finger protein 7
                     (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase
                     (G2E3); cd15669"
                     /db_xref="CDD:277139"
     Site            order(97,106..110,116,139)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277139"
     CDS             1..269
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /coded_by="XM_047448296.1:750..1559"
                     /db_xref="GeneID:51533"
                     /db_xref="HGNC:HGNC:18458"
                     /db_xref="MIM:620057"
ORIGIN      
        1 mktvkekkec qrlrksaktr rvtqrkpssg pvcwlclrep gdpeklgefl qkdnisvhyf
       61 clilssklpq rgqsnrgfhg flpedikkea arasrkicfv ckkkgaainc qkdqclrnfh
      121 lpcgqergcl sqffgeyksf cdkhrptqni qhghvgeesc ilccedlsqq sveniqspcc
      181 sqaiyhrkci qkyahtsakh ffkcpqcnnr kefpqemlrm gihipdrdaa welepgafsd
      241 lyqryqhcda piclyeqgrd sfedeglht
//
LOCUS       XP_011532312             246 aa            linear   PRI 20-MAR-2023
DEFINITION  5-azacytidine-induced protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_011532312
VERSION     XP_011532312.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534010.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..246
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..246
                     /product="5-azacytidine-induced protein 2 isoform X3"
                     /calculated_mol_wt=28386
     Region          <49..>236
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..246
                     /gene="AZI2"
                     /gene_synonym="AZ2; NAP1; TILP"
                     /coded_by="XM_011534010.3:1067..1807"
                     /db_xref="GeneID:64343"
                     /db_xref="HGNC:HGNC:24002"
                     /db_xref="MIM:609916"
ORIGIN      
        1 mvvmdalved dicilnheka hkrdtvtpvs iysgdesvas hfalvtayed ikkrlkdsek
       61 ensllkkrir fleekliarf eeetssvgre qvnkayhayr evcidrdnlk skldkmnkdn
      121 seslkvlneq lqskevellq lrtevetqqv mrnlnppssn weveklscdl kihgleqele
      181 lmrkecsdlk ielqkakqtd pyqednlksr dlqklsisrq sicstawsav aqswdsmnfe
      241 dcslfa
//
LOCUS       XP_006714745             396 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor 7 isoform X8 [Homo sapiens].
ACCESSION   XP_006714745
VERSION     XP_006714745.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006714682.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..396
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..396
                     /product="transcription factor 7 isoform X8"
                     /calculated_mol_wt=42826
     Region          20..212
                     /region_name="CTNNB1_binding"
                     /note="N-terminal CTNNB1 binding; pfam08347"
                     /db_xref="CDD:429937"
     Region          300..383
                     /region_name="HMG-box_TCF7-like"
                     /note="high mobility group (HMG)-box found in the
                     transcription factor 7 (TCF-7)-like family; cd21996"
                     /db_xref="CDD:438812"
     Site            order(301..308,311..312,315,325..328,331..332,335,350,354,
                     357,368..383)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438812"
     CDS             1..396
                     /gene="TCF7"
                     /gene_synonym="TCF-1"
                     /coded_by="XM_006714682.3:227..1417"
                     /db_xref="GeneID:6932"
                     /db_xref="HGNC:HGNC:11639"
                     /db_xref="MIM:189908"
ORIGIN      
        1 mpqldsgggg agggddlgap dellafqdeg eeqddksrds aagperdlae lksslvnese
       61 gaaggagipg vpgagagarg eaealgreha aqrlfpdklp epledglkap ectsgmyket
      121 vysafnllmh ypppsgagqh pqpqpplhka nqpphgvpql slyehfnsph ptpapadisq
      181 kqvhrplqtp dlsgfyslts gsmgqlphtv swpspplypl spscgyrqhf paptaapgap
      241 yprfthpslm lgsgvpghpa aiphpaivpp sgkqelqpfd rnlktqaesk aekeakkpti
      301 kkplnafmly mkemrakvia ectlkesaai nqilgrrwha lsreeqakyy elarkerqlh
      361 mqlypgwsar dnygkkkrrs rekhqesttd nslhys
//
LOCUS       XP_054187869             600 aa            linear   PRI 20-MAR-2023
DEFINITION  CBP80/20-dependent translation initiation factor isoform X3 [Homo
            sapiens].
ACCESSION   XP_054187869
VERSION     XP_054187869.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331894.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_013171814.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..600
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     Protein         1..600
                     /product="CBP80/20-dependent translation initiation factor
                     isoform X3"
                     /calculated_mol_wt=67652
     CDS             1..600
                     /gene="CTIF"
                     /gene_synonym="Gm672; KIAA0427"
                     /coded_by="XM_054331894.1:472..2274"
                     /db_xref="GeneID:9811"
                     /db_xref="HGNC:HGNC:23925"
                     /db_xref="MIM:613178"
ORIGIN      
        1 menssaasas seagssrsqe ieelerfids yvleyqvqgl ladktegdge sertqshisq
       61 wtadcsepld sscsfsrgra ppqqngskdn sldmlgtdiw aantfdsfsg atwdlqpekl
      121 dftqfhrkvr htpkqplphi dregcgkgkl edgdginlnd iekvlpawqg yhpmphevei
      181 ahtkklfrrr rndrrrqqrp pggnkpqqhg dhqpgsakhn rdhqksyqgg saphpsgrpt
      241 hhgysqnrrw hhgnmkhppg dkgeagahrn aketmtienp kledtagdtg hssleaprsp
      301 dtlapvaser lppqqsggpe vetkrkdsil perigerpki tllqsskdrl rrrlkekvpd
      361 evavetttpq qnkmdkliei lnsmrnnssd vdtklttfme eaqnstnsee mlgeivrtiy
      421 qkavsdrsfa ftaaklcdkm alfmvegtkf rslllnmlqk dftvreelqq qdverwlgfi
      481 tflcevfgtm rsstgepfrv lvcpiytclr ellqsqdvke davlccsmel qstgrlleeq
      541 lpemmtella sardkmlcps esmltrslll evielhansw npltppitqy ynrtiqklta
//
LOCUS       XP_054179271            1102 aa            linear   PRI 20-MAR-2023
DEFINITION  activity-dependent neuroprotector homeobox protein isoform X3 [Homo
            sapiens].
ACCESSION   XP_054179271
VERSION     XP_054179271.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323296.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1102
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1102
                     /product="activity-dependent neuroprotector homeobox
                     protein isoform X3"
                     /calculated_mol_wt=123432
     CDS             1..1102
                     /gene="ADNP"
                     /gene_synonym="ADNP1; HVDAS; MRD28"
                     /coded_by="XM_054323296.1:1776..5084"
                     /db_xref="GeneID:23394"
                     /db_xref="HGNC:HGNC:15766"
                     /db_xref="MIM:611386"
ORIGIN      
        1 mfqlpvnnlg slrkarktvk kilsdigley ckehiedfkq fepndfylkn ttwedvglwd
       61 psltknqdyr tkpfccsacp fsskffsayk shfrnvhsed fenrillncp yctfnadkkt
      121 lethikifha pnasapsssl stfkdknknd glkpkqadsv eqavyyckkc tyrdplyeiv
      181 rkhiyrehfq hvaapyiaka gekslngavp lgsnareess ihckrclfmp ksyealvqhv
      241 iedherigyq vtamightnv vvprskplml iapkpqdkks mglpprigsl asgnvrslps
      301 qqmvnrlsip kpnlnstgvn mmssvhlqqn nygvksvgqg ysvgqsmrlg lggnapvsip
      361 qqsqsvkqll psgngrsygl gseqrsqapa ryslqsanas slssgqlksp slsqsqasrv
      421 lgqssskpaa aatgpppgnt sstqkwkict icnelfpenv ysvhfekehk aekvpavany
      481 imkihnftsk clycnrylpt dtllnhmlih glscpycrst fndvekmaah mrmvhideem
      541 gpktdstlsf dltlqqgsht nihllvttyn lrdapaesva yhaqnnppvp pkpqpkvqek
      601 adipvksspq aavpykkdvg ktlcplcfsi lkgpisdala hhlrerhqvi qtvhpvekkl
      661 tykcihclgv ytsnmtasti tlhlvhcrgv gktqngqdkt napsrlnqsp slapvkrtye
      721 qmefpllkkr kldddsdsps ffeekpeepv vlaldpkghe ddsyearksf ltkyfnkqpy
      781 ptrreiekla aslwlwksdi ashfsnkrkk cvrdcekykp gvllgfnmke lnkvkhemdf
      841 daewlfenhd ekdsrvnask tadkklnlgk eddsssdsfe nleeesnesg spfdpvfeve
      901 pkisndnpee hvlkvipeda seseekldqk edgskyetih lteeptklmh nasdsevdqd
      961 dvvewkdgas psesgpgsqq vsdfedntce mkpgtwsdes sqsedarssk paakkkatmq
     1021 gdreqlkwkn ssygkvegfw skdqsqwkna senderlsnp qiewqnstid sedgeqfdnm
     1081 tdgvaepmhg slagvklssq qa
//
LOCUS       XP_054208522            2422 aa            linear   PRI 20-MAR-2023
DEFINITION  microtubule-associated serine/threonine-protein kinase 4 isoform X9
            [Homo sapiens].
ACCESSION   XP_054208522
VERSION     XP_054208522.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352547.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2422
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2422
                     /product="microtubule-associated serine/threonine-protein
                     kinase 4 isoform X9"
                     /calculated_mol_wt=263743
     CDS             1..2422
                     /gene="MAST4"
                     /coded_by="XM_054352547.1:72..7340"
                     /db_xref="GeneID:375449"
                     /db_xref="HGNC:HGNC:19037"
                     /db_xref="MIM:618002"
ORIGIN      
        1 mdessilrrr glqkelslpr rgsfcrtsnr ksligngqsp alprphspls ahagnspqds
       61 prnfspsasa hfsfarrtdg rrwslaslps sgygtntpss tvssscssqe klhqlpyqpt
      121 pdelhflskh fcttesiate nrcrntpmrp rsrslspgrs paccdheiim mnhvykerfp
      181 kataqmeerl keiitsyspd nvlpladgvl sfthhqiiel ardcldkshq glitsryfle
      241 lqhkldkllq eahdrsesge lafikqlvrk iliviarpar lleclefdpe efyylleaae
      301 ghakegqgik tdipryiisq lglnkdplee mahlgnydsg taetpetdes vsssnaslkl
      361 rrkpresdfe tiklisngay gavyfvrhke srqrfamkki nkqnlilrnq iqqafverdi
      421 ltfaenpfvv smycsfetrr hlcmvmeyve ggdcatlmkn mgplpvdmar myfaetvlal
      481 eylhnygivh rdlkpdnllv tsmghikltd fglskvglms mttnlyeghi ekdarefldk
      541 qvcgtpeyia pevilrqgyg kpvdwwamgi ilyeflvgcv pffgdtpeel fgqvisdein
      601 wpekdeappp daqdlitlll rqnplerlgt ggayevkqhr ffrsldwnsl lrqkaefipq
      661 leseddtsyf dtrsekyhhm eteeeddtnd edfnveirqf sscshrfskv fssidritqn
      721 saeekedsvd ktksttlpst etlswsseys emqqlstsns sdtesnrhkl ssgllpklai
      781 stegeqdeaa scpgdpheep gkpalppeec aqeepevttp astissstls vgsfsehldq
      841 ingrsecvds tdnsskpsse pashmarqrl estekkkisg kvtkslsasa lslmipgdmf
      901 avsplgspms phslssdpss srdsspsrds saasasphqp ivihssgkny gftirairvy
      961 vgdsdiytvh hivwnveegs pacqaglkag dlithingep vhglvhtevi elllksgnkv
     1021 sitttpfent siktgparrn syksrmvrrs kkskkkesle rrrslfkkla kqpspllhts
     1081 rsfsclnrsl ssgeslpgsp thslsprspt psyrstpdfp sgtnssqsss psssapnspa
     1141 gsghirpstl hglapklggq ryrsgrrksa gniplsplar tpsptpqpts pqrspspllg
     1201 hslgnskiaq afpskmhspp tivrhivrpk saepprspll krvqseekls psygsdkkhl
     1261 csrkhslevt qeevqreqsq reaplqslde nvcdvpplsr arpveqgclk rpvsrkvgrq
     1321 esvddldrdk lkakvvvkka dgfpekqesh qkshgpgsdl enfalfklee rekkvypkav
     1381 ersstfenka smqeapplgs llkdalhkqa svrasegams dgpvpaehrq gggdfrrapa
     1441 pgtlqdglch sldrgisgkg egtekssqak ellrceklds klanidylrk kmsledkedn
     1501 lcpvlkpkmt agsheclpgn pvrptggqqe pppasesraf vssthaaqms avsfvplkal
     1561 tgrvdsgtek pglvapespv rkspseykle grsvsclkpi egtldialls gpqasktelp
     1621 spesaqspsp sgdvrasvpp vlpsssgkkn dttsarelsp sslkmnksyl lepwflppsr
     1681 glqnspavsl pdpefkrdrk gphptsrspg tvmesnpqqr egsspkhqdh ttdpklltcl
     1741 gqnlhspdla rprcplppea spsrekpglr essergppta rsersaarad tcrepsmelc
     1801 fpetaktsdn sknllsvgrt hpdfytqtqa mekawapggk tnhkdgpgea rppprdnssl
     1861 hsagipceke lgkvrrgvep kpeallarrs lqppgiesek seklssfpsl qkdgakeper
     1921 keqplqrhps sippppltak dlsspaarqh csspshasgr epgakpstae pssspqdppk
     1981 pvaahsesss hkprpgpdpg ppktkhpdrs lssqkpsvga tkgkepatqs lggssregkg
     2041 hsksgpdvfp atpgsqnkas dgigqgeggp svplhtdrap ldakpqptsg grplevlekp
     2101 vhlprpghpg psepadqkls avgekqtlsp khpkpstvkd cptlckqtdn rqtdkspsqp
     2161 aantdrraeg kkctealyap aegdkleagl sfvhsenrlk gaerpaagvg kgfpeargkg
     2221 pgpqkpptea dkpngmkrsp satgqssfrs talpekslsc sssfpetrag vreasaassd
     2281 tssakaaggm lelpapsnrd hrkaqpageg rthmtksdsl psfrvstlpl eshhpdpntm
     2341 ggashrdral svtatvgetk gkdpapaqpp parkqnvgrd vtkpspapnt drpislsnek
     2401 dfvvrqrrgk eslrssphkk al
//
LOCUS       XP_054214958             580 aa            linear   PRI 20-MAR-2023
DEFINITION  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform
            X13 [Homo sapiens].
ACCESSION   XP_054214958
VERSION     XP_054214958.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358983.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..580
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..580
                     /product="voltage-dependent calcium channel subunit
                     alpha-2/delta-1 isoform X13"
                     /calculated_mol_wt=65400
     CDS             1..580
                     /gene="CACNA2D1"
                     /gene_synonym="CACNA2; CACNL2A; CCHL2A; DEE110; LINC01112;
                     lncRNA-N3"
                     /coded_by="XM_054358983.1:896..2638"
                     /db_xref="GeneID:781"
                     /db_xref="HGNC:HGNC:1399"
                     /db_xref="MIM:114204"
ORIGIN      
        1 mpppcmlfgs ghamhyplhn pksqepvtld fldaelendi kveirnkmid gesgektfrt
       61 lvksqderyi dkgnrtytwt pvngtdysla lvlptysfyy ikakleetit qarskkgkmk
      121 dsetlkpdnf eesgytfiap rdycndlkis dnntefllnf nefidrktpn npscnadlin
      181 rvlldagftn elvqnywskq knikgvkarf vvtdggitrv ypkeagenwq enpetyedsf
      241 ykrsldndny vftapyfnks gpgayesgim vskaveiyiq gkllkpavvg ikidvnswie
      301 nftktsirdp cagpvcdckr nsdvmdcvil ddggfllman hddytnqigr ffgeidpslm
      361 rhlvnisvya fnksydyqsv cepgaapkqg aghrsayvps vadilqigww ataaawsilq
      421 qfllsltfpr lleavemedd dftaslskqs citeqtqyff dndsksfsgv ldcgncsrif
      481 hgeklmntnl ifimveskgt cpcdtrlliq aeqtsdgpnp cdmvkqpryr kgpdvcfdnn
      541 vledytdcgg vsglnpslwy iigiqflllw lvsgsthrll
//
LOCUS       XP_054182434             772 aa            linear   PRI 20-MAR-2023
DEFINITION  circadian clock protein PASD1 isoform X1 [Homo sapiens].
ACCESSION   XP_054182434
VERSION     XP_054182434.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326459.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..772
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..772
                     /product="circadian clock protein PASD1 isoform X1"
                     /calculated_mol_wt=87169
     CDS             1..772
                     /gene="PASD1"
                     /gene_synonym="CT63; CT64; OXTES1"
                     /coded_by="XM_054326459.1:193..2511"
                     /db_xref="GeneID:139135"
                     /db_xref="HGNC:HGNC:20686"
                     /db_xref="MIM:300993"
ORIGIN      
        1 mkmrgekrrd kvnpkssqrk lnwipsfpty dyfnqvtlql ldgfmitlst dgviicvaen
       61 issllghlpa eivgkkllsl lpdeekdevy qkiilkfpll nsethiefcc hlkrgnvehg
      121 dssayenvkf ivnvrdicne fpvvfsglfs shlcadfaac vpqedrlylv gnvcilrtql
      181 lqqlytskav sdeavltqds deepfvgels ssqgqrghts mkavyvepaa aaaaaaisdd
      241 qidiaeveqy gpqenvhmfv dsdstycsst vfldtmpesp alslqdfrge pevnplyrad
      301 pvdlefsvdq vdsvdqegpm dqqdpenpva pldqaglmdp vdpedsvdlg aagasaqplq
      361 psspvaydii sqelelmkkl keqleertwl lhdaiqnqqn alelmmdhlq kqpntlrhvv
      421 ipdlqsseav pkkqqkqhag qvkrplphpk dvkcfcglsl snslkntgel qepcvafnqq
      481 lvqqeqhlke qqrqlreqlq qlreqrkvqk qkkmqekkkl qeqkmqekkk lqeqrrqkkk
      541 klqerkkwqg qmlqkepeee qqkqqlqeqp lkhnvivgne rvqiclqnpr dvsvplcnhp
      601 vrflqaqpiv pvqraaeqqp sgfyqdencg qqedesqsfy peayqgppvn qlplidtsns
      661 eaissssipq fpitsdstis tletpqdyir lwqelsdslg pvvqvntwsc deqgtlhgqp
      721 tyhqvqvsev gvegppdpqa fqgpaayqpd qmrsaeqtrl mpaeqrdsnk pc
//
LOCUS       NP_542168                460 aa            linear   PRI 26-MAR-2023
DEFINITION  tyrosine-protein phosphatase non-receptor type 11 isoform 2 [Homo
            sapiens].
ACCESSION   NP_542168
VERSION     NP_542168.1
DBSOURCE    REFSEQ: accession NM_080601.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 460)
  AUTHORS   Morimoto Y, Yamashita N, Hirose H, Fushimi A, Haratake N, Daimon T,
            Bhattacharya A, Ahmad R, Suzuki Y, Takahashi H and Kufe DW.
  TITLE     MUC1-C is necessary for SHP2 activation and BRAF inhibitor
            resistance in BRAF(V600E) mutant colorectal cancer
  JOURNAL   Cancer Lett 559, 216116 (2023)
   PUBMED   36878307
  REMARK    GeneRIF: MUC1-C is necessary for SHP2 activation and BRAF inhibitor
            resistance in BRAF(V600E) mutant colorectal cancer.
REFERENCE   2  (residues 1 to 460)
  AUTHORS   Li Y, Guo Y, Liu Z, Mou Y, Fang H, Yang Y, Zhao X, Zhang H and Song
            X.
  TITLE     Long non-coding RNA FAM239A promotes tumor cell proliferation and
            migration by regulating tyrosine phosphatase Src homology 2
            domain-containing phosphatase 2 in head and neck squamous cell
            carcinoma
  JOURNAL   Arch Oral Biol 147, 105615 (2023)
   PUBMED   36630765
  REMARK    GeneRIF: Long non-coding RNA FAM239A promotes tumor cell
            proliferation and migration by regulating tyrosine phosphatase Src
            homology 2 domain-containing phosphatase 2 in head and neck
            squamous cell carcinoma.
REFERENCE   3  (residues 1 to 460)
  AUTHORS   Li Y, Zhou H, Liu P, Lv D, Shi Y, Tang B, Xu J, Zhong T, Xu W,
            Zhang J, Zhou J, Ying K, Zhao Y, Sun Y, Jiang Z, Cheng H, Zhang X
            and Ke Y.
  TITLE     SHP2 deneddylation mediates tumor immunosuppression in colon cancer
            via the CD47/SIRPalpha axis
  JOURNAL   J Clin Invest 133 (4), e162870 (2023)
   PUBMED   36626230
  REMARK    GeneRIF: SHP2 deneddylation mediates tumor immunosuppression in
            colon cancer via the CD47/SIRPalpha axis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 460)
  AUTHORS   Tabib A, Talebi T, Ghasemi S, Pourirahim M, Naderi N, Maleki M and
            Kalayinia S.
  TITLE     A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous
            pathogenic variant in PTPN11 associated with congenital heart
            defects
  JOURNAL   Eur J Med Res 27 (1), 286 (2022)
   PUBMED   36496429
  REMARK    GeneRIF: A novel stop-gain pathogenic variant in FLT4 and a
            nonsynonymous pathogenic variant in PTPN11 associated with
            congenital heart defects.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 460)
  AUTHORS   Gelb,B.D. and Tartaglia,M.
  TITLE     Noonan Syndrome with Multiple Lentigines
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301557
REFERENCE   6  (residues 1 to 460)
  AUTHORS   Roberts,A.E.
  TITLE     Noonan Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301303
REFERENCE   7  (residues 1 to 460)
  AUTHORS   Adachi M, Sekiya M, Miyachi T, Matsuno K, Hinoda Y, Imai K and
            Yachi A.
  TITLE     Molecular cloning of a novel protein-tyrosine phosphatase SH-PTP3
            with sequence similarity to the src-homology region 2
  JOURNAL   FEBS Lett 314 (3), 335-339 (1992)
   PUBMED   1281790
REFERENCE   8  (residues 1 to 460)
  AUTHORS   Freeman RM Jr, Plutzky J and Neel BG.
  TITLE     Identification of a human src homology 2-containing
            protein-tyrosine-phosphatase: a putative homolog of Drosophila
            corkscrew
  JOURNAL   Proc Natl Acad Sci U S A 89 (23), 11239-11243 (1992)
   PUBMED   1280823
REFERENCE   9  (residues 1 to 460)
  AUTHORS   Adachi M, Sekiya M, Arimura Y, Takekawa M, Itoh F, Hinoda Y, Imai K
            and Yachi A.
  TITLE     Protein-tyrosine phosphatase expression in pre-B cell NALM-6
  JOURNAL   Cancer Res 52 (3), 737-740 (1992)
   PUBMED   1370651
REFERENCE   10 (residues 1 to 460)
  AUTHORS   Arimura Y, Hinoda Y, Itoh F, Takekawa M, Tsujisaki M, Adachi M,
            Imai K and Yachi A.
  TITLE     cDNA cloning of new protein tyrosine phosphatases in the human
            colon
  JOURNAL   Tumour Biol 13 (3), 180-186 (1992)
   PUBMED   1626183
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC008692.1.
            
            Summary: The protein encoded by this gene is a member of the
            protein tyrosine phosphatase (PTP) family. PTPs are known to be
            signaling molecules that regulate a variety of cellular processes
            including cell growth, differentiation, mitotic cycle, and
            oncogenic transformation. This PTP contains two tandem Src
            homology-2 domains, which function as phospho-tyrosine binding
            domains and mediate the interaction of this PTP with its
            substrates. This PTP is widely expressed in most tissues and plays
            a regulatory role in various cell signaling events that are
            important for a diversity of cell functions, such as mitogenic
            activation, metabolic control, transcription regulation, and cell
            migration. Mutations in this gene are a cause of Noonan syndrome as
            well as acute myeloid leukemia. [provided by RefSeq, Aug 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC008692.1, SRR1660805.282591.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..460
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.13"
     Protein         1..460
                     /product="tyrosine-protein phosphatase non-receptor type
                     11 isoform 2"
                     /EC_number="3.1.3.48"
                     /note="protein-tyrosine phosphatase 2C; protein-tyrosine
                     phosphatase 1D; SH2 domain-containing protein tyrosine
                     phosphatase 2"
                     /calculated_mol_wt=52697
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylthreonine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q06124.3)"
     Region          5..103
                     /region_name="SH2_N-SH2_SHP_like"
                     /note="N-terminal Src homology 2 (N-SH2) domain found in
                     SH2 domain Phosphatases (SHP) proteins; cd10340"
                     /db_xref="CDD:198203"
     Site            order(13,32,53,55)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198203"
     Site            order(52..54,68,88..91,93)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198203"
     Site            62
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q06124.3)"
     Site            66
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P35235; propagated from
                     UniProtKB/Swiss-Prot (Q06124.3)"
     Region          111..218
                     /region_name="SH2_C-SH2_SHP_like"
                     /note="C-terminal Src homology 2 (C-SH2) domain found in
                     SH2 domain Phosphatases (SHP) proteins; cd09931"
                     /db_xref="CDD:198185"
     Site            order(139,141,146..147)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198185"
     Site            order(170,197)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198185"
     Region          272..>459
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     CDS             1..460
                     /gene="PTPN11"
                     /gene_synonym="BPTP3; CFC; JMML; METCDS; NS1; PTP-1D;
                     PTP2C; SH-PTP2; SH-PTP3; SHP2"
                     /coded_by="NM_080601.3:166..1548"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS58280.1"
                     /db_xref="GeneID:5781"
                     /db_xref="HGNC:HGNC:9644"
                     /db_xref="MIM:176876"
ORIGIN      
        1 mtsrrwfhpn itgveaenll ltrgvdgsfl arpsksnpgd ftlsvrrnga vthikiqntg
       61 dyydlyggek fatlaelvqy ymehhgqlke kngdvielky plncadptse rwfhghlsgk
      121 eaeklltekg khgsflvres qshpgdfvls vrtgddkges ndgkskvthv mircqelkyd
      181 vgggerfdsl tdlvehykkn pmvetlgtvl qlkqplnttr inaaeiesrv relsklaett
      241 dkvkqgfwee fetlqqqeck llysrkegqr qenknknryk nilpfdhtrv vlhdgdpnep
      301 vsdyinanii mpefetkcnn skpkksyiat qgclqntvnd fwrmvfqens rvivmttkev
      361 ergkskcvky wpdeyalkey gvmrvrnvke saahdytlre lklskvgqgn tertvwqyhf
      421 rtwpdhgvps dpggvldfle evhhkqesim dagpvvvhcr
//
LOCUS       NP_001340404             549 aa            linear   PRI 18-DEC-2022
DEFINITION  uridine-cytidine kinase-like 1 isoform 3 [Homo sapiens].
ACCESSION   NP_001340404 XP_016883385
VERSION     NP_001340404.1
DBSOURCE    REFSEQ: accession NM_001353475.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 549)
  AUTHORS   Matchett EC, Ambrose EC and Kornbluth J.
  TITLE     Characterization of uridine-cytidine kinase like-1 nucleoside
            kinase activity and its role in tumor growth
  JOURNAL   Biochem J 479 (11), 1149-1164 (2022)
   PUBMED   35583288
  REMARK    GeneRIF: Characterization of uridine-cytidine kinase like-1
            nucleoside kinase activity and its role in tumor growth.
REFERENCE   2  (residues 1 to 549)
  AUTHORS   Buivydiene A, Liakina V, Kashuba E, Norkuniene J, Jokubauskiene S,
            Gineikiene E and Valantinas J.
  TITLE     Impact of the UridineCytidine Kinase Like-1 Protein and IL28B
            rs12979860 and rs8099917 SNPs on the Development of Hepatocellular
            Carcinoma in Cirrhotic Chronic Hepatitis C Patients-A Pilot Study
  JOURNAL   Medicina (Kaunas) 54 (5), 67 (2018)
   PUBMED   30344298
  REMARK    GeneRIF: The presence of IL28B rs8099917 TT and rs12979860 CC SNPs,
            but not the intensity of UCKL-1 expression, is strongly associated
            with increased chances of Hepatocellular Carcinoma development in
            hepatitis C virus -positive cirrhotic patients.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 549)
  AUTHORS   Ambrose EC and Kornbluth J.
  TITLE     Downregulation of uridine-cytidine kinase like-1 decreases
            proliferation and enhances tumor susceptibility to lysis by
            apoptotic agents and natural killer cells
  JOURNAL   Apoptosis 14 (10), 1227-1236 (2009)
   PUBMED   19653100
  REMARK    GeneRIF: These results indicate a role for UCKL-1 in tumor cell
            survival.
REFERENCE   4  (residues 1 to 549)
  AUTHORS   Fortier JM and Kornbluth J.
  TITLE     NK lytic-associated molecule, involved in NK cytotoxic function, is
            an E3 ligase
  JOURNAL   J Immunol 176 (11), 6454-6463 (2006)
   PUBMED   16709802
REFERENCE   5  (residues 1 to 549)
  AUTHORS   Kashuba E, Kashuba V, Sandalova T, Klein G and Szekely L.
  TITLE     Epstein-Barr virus encoded nuclear protein EBNA-3 binds a novel
            human uridine kinase/uracil phosphoribosyltransferase
  JOURNAL   BMC Cell Biol 3, 23 (2002)
   PUBMED   12199906
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL118506.27.
            On Jul 14, 2017 this sequence version replaced XP_016883385.1.
            
            Summary: The protein encoded by this gene is a uridine kinase.
            Uridine kinases catalyze the phosphorylation of uridine to uridine
            monophosphate. This protein has been shown to bind to Epstein-Barr
            nuclear antigen 3 as well as natural killer lytic-associated
            molecule. Ubiquitination of this protein is enhanced by the
            presence of natural killer lytic-associated molecule. In addition,
            protein levels decrease in the presence of natural killer
            lytic-associated molecule, suggesting that association with natural
            killer lytic-associated molecule results in ubiquitination and
            subsequent degradation of this protein. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Nov
            2014].
            
            Transcript Variant: This variant (4) encodes the longest isoform
            (3).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.128563.1,
                                           SRR1660805.41071.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..549
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     Protein         1..549
                     /product="uridine-cytidine kinase-like 1 isoform 3"
                     /EC_number="2.7.1.48"
                     /note="uridine-cytidine kinase-like 1; UCK1-LIKE"
                     /calculated_mol_wt=61255
     Region          1..78
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NWZ5.2)"
     Site            16
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9NWZ5.2)"
     Site            56
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NWZ5.2)"
     Site            63
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q91YL3; propagated from
                     UniProtKB/Swiss-Prot (Q9NWZ5.2)"
     Region          101..299
                     /region_name="UMPK"
                     /note="Uridine monophosphate kinase (UMPK, EC 2.7.1.48),
                     also known as uridine kinase or uridine-cytidine kinase
                     (UCK), catalyzes the reversible phosphoryl transfer from
                     ATP to uridine or cytidine to yield UMP or CMP. In the
                     primidine nucleotide-salvage pathway; cd02023"
                     /db_xref="CDD:238981"
     Site            order(112,236,284)
                     /site_type="other"
                     /note="ATP-binding site [chemical binding]"
                     /db_xref="CDD:238981"
     Site            order(133,157,237)
                     /site_type="active"
                     /note="Sugar specificity [active]"
                     /db_xref="CDD:238981"
     Site            order(136,154,183,185,188,245)
                     /site_type="active"
                     /note="Pyrimidine base specificity [active]"
                     /db_xref="CDD:238981"
     Region          330..533
                     /region_name="UPRTase"
                     /note="Uracil phosphoribosyltransferase; pfam14681"
                     /db_xref="CDD:434124"
     Site            order(401,403,454..456,458..462,488)
                     /site_type="active"
                     /db_xref="CDD:206754"
     Site            540
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9NWZ5.2)"
     CDS             1..549
                     /gene="UCKL1"
                     /gene_synonym="UCK1L; URKL1"
                     /coded_by="NM_001353475.2:45..1694"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="GeneID:54963"
                     /db_xref="HGNC:HGNC:15938"
                     /db_xref="MIM:610866"
ORIGIN      
        1 maapparada dpsptsppta rdtpgrqaek setacedrsn aesldrllpp vgtgrsprkr
       61 ttsqcksepp llrtskrtiy tagrppwyne hgtqskeafa iglgggsasg kttvarmiie
      121 aldvpwvvll smdsfykvlt eqqqeqaahn nfnfdhpdaf dfdliistlk klkqgksvkv
      181 piydftthsr kkdwktlyga nviifegima fadktllell dmkifvdtds dirlvrrlrr
      241 disergrdie gvikqynkfv kpsfdqyiqp tmrladivvp rgsgntvaid livqhvhsql
      301 eerklrwdma alasahqchp lprtlsvlks tpqvrgmhti irdketsrde fifyskrlmr
      361 lliehalsfl pfqdcvvqtp qgqdyagkcy agkqitgvsi lragetmepa lravckdvri
      421 gtiliqtnql tgepelhylr lpkdisddhv ilmdctvstg aaammavrvl ldhdvpedki
      481 fllsllmaem gvhsvayafp rvriittavd krvndlfrii pgignfgdry fgtdavpdgs
      541 deeevaytg
//
LOCUS       NP_116258                583 aa            linear   PRI 24-DEC-2022
DEFINITION  nudC domain-containing protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_116258
VERSION     NP_116258.2
DBSOURCE    REFSEQ: accession NM_032869.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 583)
  AUTHORS   Feng WM, Gong H, Wang YC, Wang Y, Xue T, Zhang T and Cui G.
  TITLE     NudCD1 as a prognostic marker in colorectal cancer and its role in
            the upregulation of cellular spindle assembly checkpoint genes and
            LIS1 pathways
  JOURNAL   BMC Cancer 22 (1), 981 (2022)
   PUBMED   36104662
  REMARK    GeneRIF: NudCD1 as a prognostic marker in colorectal cancer and its
            role in the upregulation of cellular spindle assembly checkpoint
            genes and LIS1 pathways.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 583)
  AUTHORS   Liu YP, Wei W, He Y, You CJ and Lei CJ.
  TITLE     Analysis of NudCD1 and NF-kappaBeta in the early detection and
            course evaluation of renal cancer
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (23), 12109-12115 (2020)
   PUBMED   33336728
  REMARK    GeneRIF: Analysis of NudCD1 and NF-kappaBeta in the early detection
            and course evaluation of renal cancer.
REFERENCE   3  (residues 1 to 583)
  AUTHORS   He B, Xia S and Zhang Z.
  TITLE     NudCD1 Promotes the Proliferation and Metastasis of Non-Small Cell
            Lung Cancer Cells through the Activation of IGF1R-ERK1/2
  JOURNAL   Pathobiology 87 (4), 244-253 (2020)
   PUBMED   32634806
  REMARK    GeneRIF: NudCD1 Promotes the Proliferation and Metastasis of
            Non-Small Cell Lung Cancer Cells through the Activation of
            IGF1R-ERK1/2.
REFERENCE   4  (residues 1 to 583)
  AUTHORS   Song F, Chen Q, Rao W, Zhang R, Wang Y, Ge H and Wei Q.
  TITLE     OVA66 promotes tumour angiogenesis and progression through
            enhancing autocrine VEGF-VEGFR2 signalling
  JOURNAL   EBioMedicine 41, 156-166 (2019)
   PUBMED   30833190
  REMARK    GeneRIF: OVA66 overexpression in the cancer cell lines promoted
            VEGF secretion, tumour growth and angiogenesis in vitro and in vivo
REFERENCE   5  (residues 1 to 583)
  AUTHORS   Wang RJ, Wang N, Cui G, Chen Y, Zhong H and Tang J.
  TITLE     The impact of NudCD1 on renal carcinoma cell proliferation,
            migration, and invasion
  JOURNAL   Eur Rev Med Pharmacol Sci 22 (3), 671-677 (2018)
   PUBMED   29461594
  REMARK    GeneRIF: NudCD1 significantly increased in renal cell carcinoma and
            was positively correlated with cell proliferation, migration, and
            invasion
REFERENCE   6  (residues 1 to 583)
  AUTHORS   Taipale M, Tucker G, Peng J, Krykbaeva I, Lin ZY, Larsen B, Choi H,
            Berger B, Gingras AC and Lindquist S.
  TITLE     A quantitative chaperone interaction network reveals the
            architecture of cellular protein homeostasis pathways
  JOURNAL   Cell 158 (2), 434-448 (2014)
   PUBMED   25036637
REFERENCE   7  (residues 1 to 583)
  AUTHORS   Wang Q, Li M, Wang Y, Zhang Y, Jin S, Xie G, Liu Z, Wang S, Zhang
            H, Shen L and Ge H.
  TITLE     RNA interference targeting CML66, a novel tumor antigen, inhibits
            proliferation, invasion and metastasis of HeLa cells
  JOURNAL   Cancer Lett 269 (1), 127-138 (2008)
   PUBMED   18534745
  REMARK    GeneRIF: CML66 may play an oncogenic role in ways of favoring tumor
            cells proliferation, invasion and metastasis-associated with
            multiple pathways.
REFERENCE   8  (residues 1 to 583)
  AUTHORS   Jin S, Wang Y, Zhang Y, Zhang HZ, Wang SJ, Tang JQ, Chen HJ and Ge
            HL.
  TITLE     Humoral immune responses against tumor-associated antigen OVA66
            originally defined by serological analysis of recombinant cDNA
            expression libraries and its potentiality in cellular immunity
  JOURNAL   Cancer Sci 99 (8), 1670-1678 (2008)
   PUBMED   18754882
  REMARK    GeneRIF: study identified a novel gene, OVA66, which was expressed
            significantly higher in cancer patients than normal controls; IgG
            level against OVA66 was significantly elevated in the serum of
            cancer patients from different histological types of cancer [OVA66]
REFERENCE   9  (residues 1 to 583)
  AUTHORS   Yan Y, Phan L, Yang F, Talpaz M, Yang Y, Xiong Z, Ng B, Timchenko
            NA, Wu CJ, Ritz J, Wang H and Yang XF.
  TITLE     A novel mechanism of alternative promoter and splicing regulates
            the epitope generation of tumor antigen CML66-L
  JOURNAL   J Immunol 172 (1), 651-660 (2004)
   PUBMED   14688378
  REMARK    GeneRIF: An alternative promoter (CML66-S short isoform) has been
            identified in combination with alternative splicing as a novel
            mechanism for regulation of the epitope generation of a self-tumor
            antigen.
REFERENCE   10 (residues 1 to 583)
  AUTHORS   Yang XF, Wu CJ, McLaughlin S, Chillemi A, Wang KS, Canning C, Alyea
            EP, Kantoff P, Soiffer RJ, Dranoff G and Ritz J.
  TITLE     CML66, a broadly immunogenic tumor antigen, elicits a humoral
            immune response associated with remission of chronic myelogenous
            leukemia
  JOURNAL   Proc Natl Acad Sci U S A 98 (13), 7492-7497 (2001)
   PUBMED   11416219
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF283301.1, AK307663.1, AC021237.5 and BC043406.1.
            On Jun 10, 2008 this sequence version replaced NP_116258.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.42673.1,
                                           SRR1803615.106059.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000239690.9/ ENSP00000239690.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..583
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q23.1"
     Protein         1..583
                     /product="nudC domain-containing protein 1 isoform 1"
                     /EC_number="2.3.2.27"
                     /note="chronic myelogenous leukemia tumor antigen 66; nudC
                     domain-containing protein 1; tumor antigen CML66"
                     /calculated_mol_wt=66625
     Site            8
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96RS6.2)"
     Region          278..361
                     /region_name="p23_NUDCD1_like"
                     /note="p23_NUDCD1: p23-like NUD (nuclear distribution)
                     C-like domain found in human NUD (nuclear distribution) C
                     domain-containing protein 1, NUDCD1 (also known as CML66),
                     and similar proteins. NUDCD1/CML66 is a broadly
                     immunogenic tumor associated antigen; cd06493"
                     /db_xref="CDD:107242"
     Site            388
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96RS6.2)"
     CDS             1..583
                     /gene="NUDCD1"
                     /gene_synonym="CML66; OVA66"
                     /coded_by="NM_032869.4:78..1829"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS6312.1"
                     /db_xref="GeneID:84955"
                     /db_xref="HGNC:HGNC:24306"
                     /db_xref="MIM:606109"
ORIGIN      
        1 mevaancslr vkrplldprf egyklslepl pcyqleldaa vaevklrddq ytlehmhafg
       61 mynylhcdsw yqdsvyyidt lgrimnltvm ldtalgkpre vfrlptdlta cdnrlcasih
      121 fssstwvtls dgtgrlyvig tgergnsase kweimfneel gdpfiiihsi sllnaeehsi
      181 atlllrieke eldmkgsgfy vslewvtisk knqdnkkyei ikrdilrgks vphyaaiepd
      241 gnglmivsyk sltfvqagqd leenmdedis ekikeplyyw qqteddltvt irlpedstke
      301 diqiqflpdh inivlkdhqf legklyssid hesstwiike snsleislik knegltwpel
      361 vigdkqgeli rdsaqcaaia erlmhltsee lnpnpdkekp pcnaqeleec diffeesssl
      421 crfdgntlkt thvvnlgsnq ylfsvivdpk empcfclrhd vdallwqphs skqddmwehi
      481 atfnalgyvq askrdkkffa capnysyaal ceclrrvfiy rqpapmstvl ynrkegrqvg
      541 qvakqqvasl etndpilgfq atnerlfvlt tknlflikvn ten
//
LOCUS       NP_001361451             317 aa            linear   PRI 27-DEC-2022
DEFINITION  dermatan-sulfate epimerase isoform h precursor [Homo sapiens].
ACCESSION   NP_001361451
VERSION     NP_001361451.1
DBSOURCE    REFSEQ: accession NM_001374522.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 317)
  AUTHORS   Listik E, Xavier EG, Silva Pinhal MAD and Toma L.
  TITLE     Dermatan sulfate epimerase 1 expression and mislocalization may
            interfere with dermatan sulfate synthesis and breast cancer cell
            growth
  JOURNAL   Carbohydr Res 488, 107906 (2020)
   PUBMED   31972438
  REMARK    GeneRIF: Dermatan sulfate epimerase 1 expression and
            mislocalization may interfere with dermatan sulfate synthesis and
            breast cancer cell growth.
REFERENCE   2  (residues 1 to 317)
  AUTHORS   Tykesson E, Hassinen A, Zielinska K, Thelin MA, Frati G, Ellervik
            U, Westergren-Thorsson G, Malmstrom A, Kellokumpu S and Maccarana
            M.
  TITLE     Dermatan sulfate epimerase 1 and dermatan 4-O-sulfotransferase 1
            form complexes that generate long epimerized 4-O-sulfated blocks
  JOURNAL   J Biol Chem 293 (35), 13725-13735 (2018)
   PUBMED   29976758
  REMARK    GeneRIF: DS-epi1, DS-epi2, and D4ST1 form homomers and are all part
            of a hetero-oligomeric complex where D4ST1 directly interacts with
            DS-epi1, but not with DS-epi2. The cooperation of DS-epi1 with
            D4ST1 may therefore explain the processive mode of the formation of
            iduronic acid blocks.
REFERENCE   3  (residues 1 to 317)
  AUTHORS   Liao WC, Liao CK, Tsai YH, Tseng TJ, Chuang LC, Lan CT, Chang HM
            and Liu CH.
  TITLE     DSE promotes aggressive glioma cell phenotypes by enhancing
            HB-EGF/ErbB signaling
  JOURNAL   PLoS One 13 (6), e0198364 (2018)
   PUBMED   29864158
  REMARK    GeneRIF: Study showed that DSE is frequently upregulated in human
            glioma tissue and cell lines and associated with a worse tumor
            grade and poor overall survival. Its knockdown suppresses malignant
            phenotypes, whereas DSE overexpression enhances glioma cell
            malignancy, both in vitro and in vivo. Mechanically, DSE modulates
            HB-EGF-induced EGFR/ErbB2 activity and downstream signaling.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 317)
  AUTHORS   Tykesson E, Mao Y, Maccarana M, Pu Y, Gao J, Lin C, Zaia J,
            Westergren-Thorsson G, Ellervik U, Malmstrom L and Malmstrom A.
  TITLE     Deciphering the Mode of Action of the Processive Polysaccharide
            Modifying Enzyme Dermatan Sulfate Epimerase 1 by Hydrogen-Deuterium
            Exchange Mass Spectrometry
  JOURNAL   Chem Sci 7 (2), 1447-1456 (2016)
   PUBMED   26900446
REFERENCE   5  (residues 1 to 317)
  AUTHORS   Muller T, Mizumoto S, Suresh I, Komatsu Y, Vodopiutz J, Dundar M,
            Straub V, Lingenhel A, Melmer A, Lechner S, Zschocke J, Sugahara K
            and Janecke AR.
  TITLE     Loss of dermatan sulfate epimerase (DSE) function results in
            musculocontractural Ehlers-Danlos syndrome
  JOURNAL   Hum Mol Genet 22 (18), 3761-3772 (2013)
   PUBMED   23704329
  REMARK    GeneRIF: study identified a homozygous DSE missense mutation
            (c.803C>T, p.S268L) in a male child with musculocontractural type
            of Ehlers-Danlos syndrome; data indicate mutation affects the
            epimerase activity, resulting in reduced dermatan sulfate (DS)
            biosynthesis and an increased synthesis or an accumulation or
            reduced conversion of chondroitin sulfate
REFERENCE   6  (residues 1 to 317)
  AUTHORS   Pacheco B, Maccarana M, Goodlett DR, Malmstrom A and Malmstrom L.
  TITLE     Identification of the active site of DS-epimerase 1 and requirement
            of N-glycosylation for enzyme function
  JOURNAL   J Biol Chem 284 (3), 1741-1747 (2009)
   PUBMED   19004833
  REMARK    GeneRIF: Identification of the active site of DS-epimerase 1 and
            requirement of N-glycosylation for enzyme function.
REFERENCE   7  (residues 1 to 317)
  AUTHORS   Maccarana M, Olander B, Malmstrom J, Tiedemann K, Aebersold R,
            Lindahl U, Li JP and Malmstrom A.
  TITLE     Biosynthesis of dermatan sulfate: chondroitin-glucuronate
            C5-epimerase is identical to SART2
  JOURNAL   J Biol Chem 281 (17), 11560-11568 (2006)
   PUBMED   16505484
REFERENCE   8  (residues 1 to 317)
  AUTHORS   Sasatomi T, Suefuji Y, Matsunaga K, Yamana H, Miyagi Y, Araki Y,
            Ogata Y, Itoh K and Shirouzu K.
  TITLE     Expression of tumor rejection antigens in colorectal carcinomas
  JOURNAL   Cancer 94 (6), 1636-1641 (2002)
   PUBMED   11920522
REFERENCE   9  (residues 1 to 317)
  AUTHORS   Tanaka S, Tsuda N, Kawano K, Sakamoto M, Nishida T, Hashimoto T,
            Shichijo S, Kamura T and Itoh K.
  TITLE     Expression of tumor-rejection antigens in gynecologic cancers
  JOURNAL   Jpn J Cancer Res 91 (11), 1177-1184 (2000)
   PUBMED   11092984
REFERENCE   10 (residues 1 to 317)
  AUTHORS   Nakao M, Shichijo S, Imaizumi T, Inoue Y, Matsunaga K, Yamada A,
            Kikuchi M, Tsuda N, Ohta K, Takamori S, Yamana H, Fujita H and Itoh
            K.
  TITLE     Identification of a gene coding for a new squamous cell carcinoma
            antigen recognized by the CTL
  JOURNAL   J Immunol 164 (5), 2565-2574 (2000)
   PUBMED   10679095
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL050331.11 and Z84488.1.
            
            Summary: The protein encoded by this gene is a tumor-rejection
            antigen. It is localized to the endoplasmic reticulum and functions
            to convert D-glucuronic acid to L-iduronic acid during the
            biosynthesis of dermatan sulfate. This antigen possesses tumor
            epitopes capable of inducing HLA-A24-restricted and tumor-specific
            cytotoxic T lymphocytes in cancer patients and may be useful for
            specific immunotherapy. Mutations in this gene cause
            inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing
            results in multiple transcript variants. A related pseudogene has
            been identified on chromosome 9, and a paralogous gene exists on
            chromosome 18. [provided by RefSeq, Apr 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.3147249.1,
                                           SRR14038191.4413921.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..317
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.1"
     Protein         1..317
                     /product="dermatan-sulfate epimerase isoform h precursor"
                     /EC_number="5.1.3.19"
                     /note="DS epimerase; chondroitin-glucuronate 5-epimerase;
                     squamous cell carcinoma antigen recognized by T-cells 2"
                     /calculated_mol_wt=34296
     sig_peptide     1..22
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2517
     Site            183
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:19004833, ECO:0000269|Ref.7,
                     ECO:0007744|PDB:6HZN; propagated from UniProtKB/Swiss-Prot
                     (Q9UL01.1)"
     CDS             1..317
                     /gene="DSE"
                     /gene_synonym="DS-epi1; DSEP; DSEPI; EDSMC2; SART-2;
                     SART2"
                     /coded_by="NM_001374522.1:789..1742"
                     /note="isoform h precursor is encoded by transcript
                     variant 17"
                     /db_xref="GeneID:29940"
                     /db_xref="HGNC:HGNC:21144"
                     /db_xref="MIM:605942"
ORIGIN      
        1 mrthtrgaps vffiyllcfv sayitdenpe vmipftnany dshpmlyfsr aevaelqlra
       61 asshehiaar lteavhtmls spleylppwd pkdysarwne ifgnnlgala mfcvlypeni
      121 eardmakdym ermaaqpswl vkdapwdevp lahslvgfat aydflynyls ktqqekflev
      181 ianasgymye tsyrrgwgfq ylhnhqptnc malltgslvl mnqgylqeay lwtkqvltim
      241 ekslvllrev tdgslyegva ygsyttrslf qymflvqrhf ninhfghpwl kqhfafmyrt
      301 ilpgivrsqk cenikll
//
LOCUS       NP_001371399             460 aa            linear   PRI 28-DEC-2022
DEFINITION  nucleolar protein 4 isoform 16 [Homo sapiens].
ACCESSION   NP_001371399
VERSION     NP_001371399.1
DBSOURCE    REFSEQ: accession NM_001384470.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 460)
  AUTHORS   Lee JH, Shin DH, Lee SY, Park JY, Kim SY, Hwang CS, Lee HJ, Na JY
            and Kim JY.
  TITLE     NOL4 is a novel nuclear marker of small cell carcinoma and other
            neuroendocrine neoplasms
  JOURNAL   Histol Histopathol 37 (11), 1091-1098 (2022)
   PUBMED   36282054
  REMARK    GeneRIF: NOL4 is a novel nuclear marker of small cell carcinoma and
            other neuroendocrine neoplasms.
REFERENCE   2  (residues 1 to 460)
  AUTHORS   Kim YR, Kim KU, Lee JH, Kim DW, Chung JH, Kim YD, Shin DH, Lee MK,
            Shin YI and Lee SY.
  TITLE     Cancer Testis Antigen, NOL4, Is an Immunogenic Antigen Specifically
            Expressed in Small-Cell Lung Cancer
  JOURNAL   Curr Oncol 28 (3), 1927-1937 (2021)
   PUBMED   34065612
  REMARK    GeneRIF: Cancer Testis Antigen, NOL4, Is an Immunogenic Antigen
            Specifically Expressed in Small-Cell Lung Cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 460)
  AUTHORS   Kumari PK, Ali A, Singh SK, Chaurasia A and Raman R.
  TITLE     Genetic heterogeneity in Van der Woude syndrome: identification of
            NOL4 and IRF6 haplotype from the noncoding region as candidates in
            two families
  JOURNAL   J Genet 97 (1), 275-285 (2018)
   PUBMED   29666346
  REMARK    GeneRIF: the cosegregation of an intronic rare variant in NOL4 in
            one family, and a haplotype consisting of three variants in the
            noncoding region of IRF6 (introns 1, 8 and 3'UTR) in the other
            family, are reported.
REFERENCE   4  (residues 1 to 460)
  AUTHORS   Demokan S, Chuang AY, Pattani KM, Sidransky D, Koch W and Califano
            JA.
  TITLE     Validation of nucleolar protein 4 as a novel methylated tumor
            suppressor gene in head and neck cancer
  JOURNAL   Oncol Rep 31 (2), 1014-1020 (2014)
   PUBMED   24337411
  REMARK    GeneRIF: NOL4 was identified as a highly specific promoter
            methylated gene associated with head and neck squamous cell
            carcinoma
REFERENCE   5  (residues 1 to 460)
  AUTHORS   Eriksson N, Benton GM, Do CB, Kiefer AK, Mountain JL, Hinds DA,
            Francke U and Tung JY.
  TITLE     Genetic variants associated with breast size also influence breast
            cancer risk
  JOURNAL   BMC Med Genet 13, 53 (2012)
   PUBMED   22747683
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 460)
  AUTHORS   Tsang HT, Connell JW, Brown SE, Thompson A, Reid E and Sanderson
            CM.
  TITLE     A systematic analysis of human CHMP protein interactions:
            additional MIT domain-containing proteins bind to multiple
            components of the human ESCRT III complex
  JOURNAL   Genomics 88 (3), 333-346 (2006)
   PUBMED   16730941
REFERENCE   7  (residues 1 to 460)
  AUTHORS   Ueki N, Oda T, Kondo M, Yano K, Noguchi T and Muramatsu M.
  TITLE     Selection system for genes encoding nuclear-targeted proteins
  JOURNAL   Nat Biotechnol 16 (13), 1338-1342 (1998)
   PUBMED   9853615
REFERENCE   8  (residues 1 to 460)
  AUTHORS   Ueki N, Kondo M, Seki N, Yano K, Oda T, Masuho Y and Muramatsu M.
  TITLE     NOLP: identification of a novel human nucleolar protein and
            determination of sequence requirements for its nucleolar
            localization
  JOURNAL   Biochem Biophys Res Commun 252 (1), 97-102 (1998)
   PUBMED   9813152
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104985.3, AC087397.10, AC018972.6 and AC010798.9.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803617.56659.1, ERR4352443.57456.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..460
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     Protein         1..460
                     /product="nucleolar protein 4 isoform 16"
                     /note="nucleolar localized protein; cancer/testis antigen
                     125"
                     /calculated_mol_wt=50395
     Region          <15..50
                     /region_name="Integrase_H2C2"
                     /note="Integrase zinc binding domain; pfam17921"
                     /db_xref="CDD:436143"
     CDS             1..460
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /coded_by="NM_001384470.1:1086..2468"
                     /note="isoform 16 is encoded by transcript variant 16"
                     /db_xref="GeneID:8715"
                     /db_xref="HGNC:HGNC:7870"
                     /db_xref="MIM:603577"
ORIGIN      
        1 mhvetgpnge qirkhagqkr tykaisesya flpreavtrf lmscsecqkr mhlnpdgtdh
       61 kdngkpptlv tsmidynmpi tmaymkhmkl qllnsqqded essiesdefd msdstrmsav
      121 nsdlssnlee rmqspqnlhg qqdddsaaes fngnetlghs siasggthsr emgdsnsdgk
      181 tgleqdeqpl nlsdsplsaq ltseyriddh nsngknkykn llisdlkmer earengsksp
      241 ahsyssydsg knesvdrgae dlslnrgded eddhedhdds ekvnetdgve aerlkafnsr
      301 pipshltsav aesilasace sesrnaakrm rlerqqdesa padkqckpea tqatystsav
      361 pgsqdvlyin gngtysyhsy rglgggllnl ndasssgptd lsmkrqlats sgsssssnsr
      421 pqlspteina vrqlvagyre saafllrsad elenlilqqn
//
LOCUS       NP_001338398             360 aa            linear   PRI 29-DEC-2022
DEFINITION  ELAV-like protein 2 isoform i [Homo sapiens].
ACCESSION   NP_001338398 XP_016869907
VERSION     NP_001338398.1
DBSOURCE    REFSEQ: accession NM_001351469.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 360)
  AUTHORS   Xie Y, Wu H, Hu W, Zhang H, Li A, Zhang Z, Ren S and Zhang X.
  TITLE     Identification of Hub Genes of Lung Adenocarcinoma Based on
            Weighted Gene Co-Expression Network in Chinese Population
  JOURNAL   Pathol Oncol Res 28, 1610455 (2022)
   PUBMED   36032660
  REMARK    GeneRIF: Identification of Hub Genes of Lung Adenocarcinoma Based
            on Weighted Gene Co-Expression Network in Chinese Population.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 360)
  AUTHORS   Li X, Dong L, Yu H, Zhang Y and Wang S.
  TITLE     Bioinformatic Analysis Identified Hub Genes Associated with
            Heterocyclic Amines Induced Cytotoxicity of Peripheral Blood
            Mononuclear Cells
  JOURNAL   Genes (Basel) 12 (12), 1888 (2021)
   PUBMED   34946837
  REMARK    GeneRIF: Bioinformatic Analysis Identified Hub Genes Associated
            with Heterocyclic Amines Induced Cytotoxicity of Peripheral Blood
            Mononuclear Cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 360)
  AUTHORS   Cheng X, Gu X, Xia T, Ma Z, Yang Z, Feng HL, Zhao Y, Ma W, Ju Z,
            Gorospe M, Yi X, Tang H and Wang W.
  TITLE     HuB and HuD repress telomerase activity by dissociating HuR from
            TERC
  JOURNAL   Nucleic Acids Res 49 (5), 2848-2858 (2021)
   PUBMED   33589924
  REMARK    GeneRIF: HuB and HuD repress telomerase activity by dissociating
            HuR from TERC.
REFERENCE   4  (residues 1 to 360)
  AUTHORS   Prasad K, Khatoon F, Rashid S, Ali N, AlAsmari AF, Ahmed MZ,
            Alqahtani AS, Alqahtani MS and Kumar V.
  TITLE     Targeting hub genes and pathways of innate immune response in
            COVID-19: A network biology perspective
  JOURNAL   Int J Biol Macromol 163, 1-8 (2020)
   PUBMED   32599245
  REMARK    GeneRIF: Targeting hub genes and pathways of innate immune response
            in COVID-19: A network biology perspective.
REFERENCE   5  (residues 1 to 360)
  AUTHORS   Hatanaka T, Higashino F, Tei K and Yasuda M.
  TITLE     The neural ELAVL protein HuB enhances endogenous proto-oncogene
            activation
  JOURNAL   Biochem Biophys Res Commun 517 (2), 330-337 (2019)
   PUBMED   31358321
  REMARK    GeneRIF: HuB plays a major role in the activation of
            proto-oncogenes.
REFERENCE   6  (residues 1 to 360)
  AUTHORS   Han J, Knops JF, Longshore JW and King PH.
  TITLE     Localization of human elav-like neuronal protein 1 (Hel-N1) on
            chromosome 9p21 by chromosome microdissection polymerase chain
            reaction and fluorescence in situ hybridization
  JOURNAL   Genomics 36 (1), 189-191 (1996)
   PUBMED   8812435
REFERENCE   7  (residues 1 to 360)
  AUTHORS   Gao FB and Keene JD.
  TITLE     Hel-N1/Hel-N2 proteins are bound to poly(A)+ mRNA in granular RNP
            structures and are implicated in neuronal differentiation
  JOURNAL   J Cell Sci 109 (Pt 3), 579-589 (1996)
   PUBMED   8907704
REFERENCE   8  (residues 1 to 360)
  AUTHORS   King PH.
  TITLE     Hel-N2: a novel isoform of Hel-N1 which is conserved in rat neural
            tissue and produced in early embryogenesis
  JOURNAL   Gene 151 (1-2), 261-265 (1994)
   PUBMED   7828887
REFERENCE   9  (residues 1 to 360)
  AUTHORS   Gao FB, Carson CC, Levine T and Keene JD.
  TITLE     Selection of a subset of mRNAs from combinatorial 3' untranslated
            region libraries using neuronal RNA-binding protein Hel-N1
  JOURNAL   Proc Natl Acad Sci U S A 91 (23), 11207-11211 (1994)
   PUBMED   7972035
REFERENCE   10 (residues 1 to 360)
  AUTHORS   King PH, Levine TD, Fremeau RT Jr and Keene JD.
  TITLE     Mammalian homologs of Drosophila ELAV localized to a neuronal
            subset can bind in vitro to the 3' UTR of mRNA encoding the Id
            transcriptional repressor
  JOURNAL   J Neurosci 14 (4), 1943-1952 (1994)
   PUBMED   8158249
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161628.9 and AL445623.2.
            On May 12, 2017 this sequence version replaced XP_016869907.1.
            
            Summary: In humans, the ELAV like RNA binding protein gene family
            has four members (ELAVL1-4). ELAVL RNA binding proteins recognize
            AU-rich elements in the 3' UTRs of gene transcripts and thereby
            regulate gene expression post-transcriptionally. The protein
            encoded by this gene binds to several 3' UTRs, including its own
            and also that of FOS, ID, and POU5F1. This gene encodes ELAVL2 and,
            like ELAVL3 and ELAVL4, is expressed specifically in neurons and
            primarily localizes to the cytoplasm. This protein also forms a
            cytosolic complex with the normally nuclear-localized ELAVL1
            protein. Alternative splicing of this gene results in multiple
            transcript variants encoding distinct protein isoforms. [provided
            by RefSeq, Jul 2020].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.20594.1,
                                           SRR1660809.187699.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158188, SAMN03465403
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..360
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.3"
     Protein         1..360
                     /product="ELAV-like protein 2 isoform i"
                     /note="ELAV-like protein 2; nervous system-specific
                     RNA-binding protein Hel-N1; hu-antigen B; ELAV (embryonic
                     lethal, abnormal vision, Drosophila)-like 2 (Hu antigen
                     B); ELAV like neuron-specific RNA binding protein 2"
                     /calculated_mol_wt=39460
     Region          1..33
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12926.2)"
     Region          36..359
                     /region_name="ELAV_HUD_SF"
                     /note="ELAV/HuD family splicing factor; TIGR01661"
                     /db_xref="CDD:273741"
     Site            221
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q12926.2)"
     CDS             1..360
                     /gene="ELAVL2"
                     /gene_synonym="HEL-N1; HELN1; HUB"
                     /coded_by="NM_001351469.2:383..1465"
                     /note="isoform i is encoded by transcript variant 18"
                     /db_xref="GeneID:1993"
                     /db_xref="HGNC:HGNC:3313"
                     /db_xref="MIM:601673"
ORIGIN      
        1 metqlsngpt cnntangptt innncsspvd sgntedsktn livnylpqnm tqeelkslfg
       61 sigeiesckl vrdkitgqsl gygfvnyidp kdaekaintl nglrlqtkti kvsyarpssa
      121 sirdanlyvs glpktmtqke leqlfsqygr iitsrilvdq vtgisrgvgf irfdkrieae
      181 eaikglngqk ppgatepitv kfannpsqkt nqailsqlyq spnrrypgpl aqqaqrfrld
      241 nllnmaygvk srfspmtidg mtslaginip ghpgtgwcif vynlapdade silwqmfgpf
      301 gavtnvkvir dfntnkckgf gfvtmtnyde aamaiaslng yrlgdrvlqv sfktnkthka
//
LOCUS       NP_001290198            1167 aa            linear   PRI 30-DEC-2022
DEFINITION  DNA-directed RNA polymerase II subunit RPB2 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001290198
VERSION     NP_001290198.1
DBSOURCE    REFSEQ: accession NM_001303269.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1167)
  AUTHORS   Lykke-Andersen S, Rouviere JO and Jensen TH.
  TITLE     ARS2/SRRT: at the nexus of RNA polymerase II transcription,
            transcript maturation and quality control
  JOURNAL   Biochem Soc Trans 49 (3), 1325-1336 (2021)
   PUBMED   34060620
  REMARK    GeneRIF: ARS2/SRRT: at the nexus of RNA polymerase II
            transcription, transcript maturation and quality control.
            Review article
REFERENCE   2  (residues 1 to 1167)
  AUTHORS   He M, Xu M, Zhang B, Liang J, Chen P, Lee JY, Johnson TA, Li H,
            Yang X, Dai J, Liang L, Gui L, Qi Q, Huang J, Li Y, Adair LS, Aung
            T, Cai Q, Cheng CY, Cho MC, Cho YS, Chu M, Cui B, Gao YT, Go MJ, Gu
            D, Gu W, Guo H, Hao Y, Hong J, Hu Z, Hu Y, Huang J, Hwang JY, Ikram
            MK, Jin G, Kang DH, Khor CC, Kim BJ, Kim HT, Kubo M, Lee J, Lee J,
            Lee NR, Li R, Li J, Liu J, Longe J, Lu W, Lu X, Miao X, Okada Y,
            Ong RT, Qiu G, Seielstad M, Sim X, Song H, Takeuchi F, Tanaka T,
            Taylor PR, Wang L, Wang W, Wang Y, Wu C, Wu Y, Xiang YB, Yamamoto
            K, Yang H, Liao M, Yokota M, Young T, Zhang X, Kato N, Wang QK,
            Zheng W, Hu FB, Lin D, Shen H, Teo YY, Mo Z, Wong TY, Lin X, Mohlke
            KL, Ning G, Tsunoda T, Han BG, Shu XO, Tai ES, Wu T and Qi L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   3  (residues 1 to 1167)
  AUTHORS   Grolimund L, Aeby E, Hamelin R, Armand F, Chiappe D, Moniatte M and
            Lingner J.
  TITLE     A quantitative telomeric chromatin isolation protocol identifies
            different telomeric states
  JOURNAL   Nat Commun 4, 2848 (2013)
   PUBMED   24270157
REFERENCE   4  (residues 1 to 1167)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   5  (residues 1 to 1167)
  AUTHORS   Arakawa S, Takahashi A, Ashikawa K, Hosono N, Aoi T, Yasuda M,
            Oshima Y, Yoshida S, Enaida H, Tsuchihashi T, Mori K, Honda S, Negi
            A, Arakawa A, Kadonosono K, Kiyohara Y, Kamatani N, Nakamura Y,
            Ishibashi T and Kubo M.
  TITLE     Genome-wide association study identifies two susceptibility loci
            for exudative age-related macular degeneration in the Japanese
            population
  JOURNAL   Nat Genet 43 (10), 1001-1004 (2011)
   PUBMED   21909106
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1167)
  AUTHORS   Schaller S, Grandemange S, Shpakovski GV, Golemis EA, Kedinger C
            and Vigneron M.
  TITLE     Interactions between the full complement of human RNA polymerase II
            subunits
  JOURNAL   FEBS Lett 461 (3), 253-257 (1999)
   PUBMED   10567706
REFERENCE   7  (residues 1 to 1167)
  AUTHORS   Kershnar E, Wu SY and Chiang CM.
  TITLE     Immunoaffinity purification and functional characterization of
            human transcription factor IIH and RNA polymerase II from clonal
            cell lines that conditionally express epitope-tagged subunits of
            the multiprotein complexes
  JOURNAL   J Biol Chem 273 (51), 34444-34453 (1998)
   PUBMED   9852112
REFERENCE   8  (residues 1 to 1167)
  AUTHORS   Acker J, de Graaff M, Cheynel I, Khazak V, Kedinger C and Vigneron
            M.
  TITLE     Interactions between the human RNA polymerase II subunits
  JOURNAL   J Biol Chem 272 (27), 16815-16821 (1997)
   PUBMED   9201987
REFERENCE   9  (residues 1 to 1167)
  AUTHORS   Acker J, Mattei MG, Wintzerith M, Roeckel N, Depetris D, Vigneron M
            and Kedinger C.
  TITLE     Chromosomal localization of human RNA polymerase II subunit genes
  JOURNAL   Genomics 20 (3), 496-499 (1994)
   PUBMED   8034326
REFERENCE   10 (residues 1 to 1167)
  AUTHORS   Acker J, Wintzerith M, Vigneron M and Kedinger C.
  TITLE     Primary structure of the second largest subunit of human RNA
            polymerase II (or B)
  JOURNAL   J Mol Biol 226 (4), 1295-1299 (1992)
   PUBMED   1518060
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK295132.1, BC023503.2 and
            AK294901.1.
            
            Summary: This gene encodes the second largest subunit of RNA
            polymerase II (Pol II), a DNA-dependent RNA polymerase that
            catalyzes the transcription of DNA into precursors of mRNA, snRNA
            and microRNA. This subunit and the largest subunit form opposite
            sides of the center cleft of Pol II. Deletion of the flap loop
            region of this subunit results in a decrease in the rate of
            transcriptional elongation. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Dec 2014].
            
            Transcript Variant: This variant (3) contains an alternate exon in
            its 5' UTR and initiates translation at an in-frame downstream
            start codon, compared to variant 1. This results in isoform 3,
            which has a shorter N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK295132.1, SRR14038196.2946110.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145544, SAMEA2146236
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1167
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     Protein         1..1167
                     /product="DNA-directed RNA polymerase II subunit RPB2
                     isoform 3"
                     /EC_number="2.7.7.6"
                     /note="RNA polymerase II second largest subunit;
                     DNA-directed RNA polymerase II subunit RPB2; RNA
                     polymerase II subunit 2; RNA polymerase II subunit B2;
                     DNA-directed RNA polymerase II subunit B; DNA-directed RNA
                     polymerase II 140 kDa polypeptide; polymerase (RNA) II
                     (DNA directed) polypeptide B, 140kDa; polymerase (RNA) II
                     subunit B"
                     /calculated_mol_wt=132926
     Region          20..1165
                     /region_name="PRK08565"
                     /note="DNA-directed RNA polymerase subunit B; Provisional"
                     /db_xref="CDD:236291"
     CDS             1..1167
                     /gene="POLR2B"
                     /gene_synonym="hRPB140; POL2RB; RPB2"
                     /coded_by="NM_001303269.2:290..3793"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS77915.1"
                     /db_xref="GeneID:5431"
                     /db_xref="HGNC:HGNC:9188"
                     /db_xref="MIM:180661"
ORIGIN      
        1 mqydedddei tpdlwqeacw ivissyfdek glvrqqldsf defiqmsvqr ivedappidl
       61 qaeaqhasge veeppryllk feqiylskpt hwerdgapsp mmpnearlrn ltysaplyvd
      121 itktvikege eqlqtqhqkt figkipimlr stycllnglt drdlcelnec pldpggyfii
      181 ngsekvliaq ekmatntvyv fakkdskyay tgecrsclen ssrptstiwv smlarggqga
      241 kksaigqriv atlpyikqev piiivfralg fvsdrdileh iiydfedpem memvkpslde
      301 afviqeqnva lnfigsrgak pgvtkekrik yakevlqkem lphvgvsdfc etkkayflgy
      361 mvhrlllaal grrelddrdh ygnkrldlag pllaflfrgm fknllkevri yaqkfidrgk
      421 dfnlelaikt riisdglkys latgnwgdqk kahqaragvs qvlnrltfas tlshlrrlns
      481 pigrdgklak prqlhntlwg mvcpaetpeg havglvknla lmayisvgsq pspileflee
      541 wsmenleeis paaiadatki fvngcwvgih kdpeqlmntl rklrrqmdii vsevsmirdi
      601 rereiriytd agricrplli vekqklllkk rhidqlkere ynnyswqdlv asgvveyidt
      661 leeetvmlam tpddlqekev aycstythce ihpsmilgvc asiipfpdhn qsprntyqsa
      721 mgkqamgvyi tnfhvrmdtl ahvlyypqkp lvttrsmeyl rfrelpagin sivaiasytg
      781 ynqedsvimn rsavdrgffr svfyrsykeq eskkgfdqee vfekptretc qgmrhaiydk
      841 ldddgliapg vrvsgddvii gktvtlpene delestnrry tkrdcstflr tsetgivdqv
      901 mvtlnqegyk fckirvrsvr ipqigdkfas rhgqkgtcgi qyrqedmpft cegitpdiii
      961 nphaipsrmt ighlieclqg kvsankgeig datpfndavn vqkisnllsd ygyhlrgnev
     1021 lyngftgrki tsqifigpty yqrlkhmvdd kihsrargpi qilnrqpmeg rsrdgglrfg
     1081 emerdcqiah gaaqflrerl feasdpyqvh vcnlcgimai antrthtyec rgcrnktqis
     1141 lvrmpyackl lfqelmsmsi aprmmsv
//
LOCUS       NP_001353149             874 aa            linear   PRI 12-MAR-2023
DEFINITION  disks large homolog 1 isoform 13 [Homo sapiens].
ACCESSION   NP_001353149 XP_016861304
VERSION     NP_001353149.1
DBSOURCE    REFSEQ: accession NM_001366220.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 874)
  AUTHORS   Veljacic Viskovic D, Lozic M, Vukoja M, Soljic V, Vukojevic K,
            Glavina Durdov M, Filipovic N and Lozic B.
  TITLE     Spatio-Temporal Expression Pattern of CAKUT Candidate Genes DLG1
            and KIF12 during Human Kidney Development
  JOURNAL   Biomolecules 13 (2), 340 (2023)
   PUBMED   36830709
  REMARK    GeneRIF: Spatio-Temporal Expression Pattern of CAKUT Candidate
            Genes DLG1 and KIF12 during Human Kidney Development.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 874)
  AUTHORS   Moser-Katz T, Gavile CM, Barwick BG, Lee KP and Boise LH.
  TITLE     PDZ Proteins SCRIB and DLG1 Regulate Myeloma Cell Surface CD86
            Expression, Growth, and Survival
  JOURNAL   Mol Cancer Res 20 (7), 1122-1136 (2022)
   PUBMED   35380688
  REMARK    GeneRIF: PDZ Proteins SCRIB and DLG1 Regulate Myeloma Cell Surface
            CD86 Expression, Growth, and Survival.
REFERENCE   3  (residues 1 to 874)
  AUTHORS   Di Maio A, De Rosa A, Pelucchi S, Garofalo M, Marciano B, Nuzzo T,
            Gardoni F, Isidori AM, Di Luca M, Errico F, De Bartolomeis A,
            Marcello E and Usiello A.
  TITLE     Analysis of mRNA and Protein Levels of CAP2, DLG1 and ADAM10 Genes
            in Post-Mortem Brain of Schizophrenia, Parkinson's and Alzheimer's
            Disease Patients
  JOURNAL   Int J Mol Sci 23 (3), 1539 (2022)
   PUBMED   35163460
  REMARK    GeneRIF: Analysis of mRNA and Protein Levels of CAP2, DLG1 and
            ADAM10 Genes in Post-Mortem Brain of Schizophrenia, Parkinson's and
            Alzheimer's Disease Patients.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 874)
  AUTHORS   Guo J, Li C, Fang Q, Liu Y, Wang D, Chen Y, Xie W and Zhang Y.
  TITLE     The SF3B1R625H mutation promotes prolactinoma tumor progression
            through aberrant splicing of DLG1
  JOURNAL   J Exp Clin Cancer Res 41 (1), 26 (2022)
   PUBMED   35039052
  REMARK    GeneRIF: The SF3B1(R625H) mutation promotes prolactinoma tumor
            progression through aberrant splicing of DLG1.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 874)
  AUTHORS   Cavatorta AL, Facciuto F, Valdano MB, Marziali F, Giri AA, Banks L
            and Gardiol D.
  TITLE     Regulation of translational efficiency by different splice variants
            of the Disc large 1 oncosuppressor 5'-UTR
  JOURNAL   FEBS J 278 (14), 2596-2608 (2011)
   PUBMED   21595829
  REMARK    GeneRIF: Studies represent first analyses of 5'-UTR of DLG1
            transcripts; data suggest that differential expression of
            alternatively spliced 5'-UTRs with different translational
            properties result in changes in DLG1 expression.
REFERENCE   6  (residues 1 to 874)
  AUTHORS   McLaughlin M, Hale R, Ellston D, Gaudet S, Lue RA and Viel A.
  TITLE     The distribution and function of alternatively spliced insertions
            in hDlg
  JOURNAL   J Biol Chem 277 (8), 6406-6412 (2002)
   PUBMED   11723125
  REMARK    GeneRIF: We identify the functions of the two alternatively spliced
            regions. The N-terminal alternatively spliced region is capable of
            binding several SH3 domains and also moderates the level of protein
            oligomerization.
REFERENCE   7  (residues 1 to 874)
  AUTHORS   Mori K, Iwao K, Miyoshi Y, Nakagawara A, Kofu K, Akiyama T, Arita
            N, Hayakawa T and Nakamura Y.
  TITLE     Identification of brain-specific splicing variants of the hDLG1
            gene and altered splicing in neuroblastoma cell lines
  JOURNAL   J Hum Genet 43 (2), 123-127 (1998)
   PUBMED   9621517
REFERENCE   8  (residues 1 to 874)
  AUTHORS   Kim E, Niethammer M, Rothschild A, Jan YN and Sheng M.
  TITLE     Clustering of Shaker-type K+ channels by interaction with a family
            of membrane-associated guanylate kinases
  JOURNAL   Nature 378 (6552), 85-88 (1995)
   PUBMED   7477295
REFERENCE   9  (residues 1 to 874)
  AUTHORS   Lue RA, Marfatia SM, Branton D and Chishti AH.
  TITLE     Cloning and characterization of hdlg: the human homologue of the
            Drosophila discs large tumor suppressor binds to protein 4.1
  JOURNAL   Proc Natl Acad Sci U S A 91 (21), 9818-9822 (1994)
   PUBMED   7937897
REFERENCE   10 (residues 1 to 874)
  AUTHORS   Mukherjee,A., Varma,S.K. and Natarajan,K.
  TITLE     Ankle joint instability in poliomyelitis
  JOURNAL   Indian J Pediatr 39 (289), 37-38 (1972)
   PUBMED   5024025
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092937.8 and AC068302.18.
            On Sep 26, 2018 this sequence version replaced XP_016861304.1.
            
            Summary: This gene encodes a multi-domain scaffolding protein that
            is required for normal development. This protein may have a role in
            septate junction formation, signal transduction, cell
            proliferation, synaptogenesis and lymphocyte activation. A
            multitude of transcript variants deriving from alternative splicing
            and the use of multiple alternate promoter have been observed,
            including some splice variants that may be specific to brain and
            other tissues. An upstream uORF may regulate translation at some
            splice variants of this gene. [provided by RefSeq, Sep 2018].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.2191049.1,
                                           SRR14038196.2639480.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..874
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q29"
     Protein         1..874
                     /product="disks large homolog 1 isoform 13"
                     /note="presynaptic protein SAP97; synapse-associated
                     protein 97; discs large homolog 1, scribble cell polarity
                     complex component; dJ1061C18.1.1"
                     /calculated_mol_wt=97773
     Region          6..64
                     /region_name="L27_1"
                     /note="pfam09058"
                     /db_xref="CDD:430389"
     Region          107..172
                     /region_name="MAGUK_N_PEST"
                     /note="Polyubiquitination (PEST) N-terminal domain of
                     MAGUK; pfam10608"
                     /db_xref="CDD:431391"
     Region          173..257
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(182..185,187,241..242,245..246)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          266..352
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(277..280,282,336..337,340..341)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          353..414
                     /region_name="PDZ_assoc"
                     /note="PDZ-associated domain of NMDA receptors; pfam10600"
                     /db_xref="CDD:431385"
     Region          412..496
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(424..427,429,477..478,481..482)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          531..597
                     /region_name="SH3_DLG1"
                     /note="Src Homology 3 domain of Disks Large homolog 1;
                     cd12031"
                     /db_xref="CDD:212964"
     Site            order(536,558..559,580)
                     /site_type="other"
                     /note="GuK domain interface [polypeptide binding]"
                     /db_xref="CDD:212964"
     Site            order(539,541,544,553,571..572,591,593..594)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212964"
     Region          683..861
                     /region_name="Guanylate_kin"
                     /note="Guanylate kinase; pfam00625"
                     /db_xref="CDD:395500"
     CDS             1..874
                     /gene="DLG1"
                     /gene_synonym="DLGH1; hdlg; SAP-97; SAP97"
                     /coded_by="NM_001366220.1:495..3119"
                     /note="isoform 13 is encoded by transcript variant 26"
                     /db_xref="GeneID:1739"
                     /db_xref="HGNC:HGNC:2900"
                     /db_xref="MIM:601014"
ORIGIN      
        1 mpvrkqdtqr alhlleeyrs klsqtedrql rssiervini fqsnlfqali diqefyevtl
       61 ldnpkcidrs kpsepiqpvn tweisslpss tvtsetlpss lspsvekyry qdedtppqeh
      121 ispqitnevi gpelvhvsek nlseienvhg fvshshispi kvngtdadye yeeitlergn
      181 sglgfsiagg tdnphigdds sifitkiitg gaaaqdgrlr vndcilrvne vdvrdvthsk
      241 avealkeags ivrlyvkrrk pvsekimeik likgpkglgf siaggvgnqh ipgdnsiyvt
      301 kiieggaahk dgklqigdkl lavnnvclee vtheeavtal kntsdfvylk vakptsmymn
      361 dgyappditn sssqpvdnhv spssflgqtp asparyspvs kavlgddeit reprkvvlhr
      421 gstglgfniv ggedgegifi sfilaggpad lsgelrkgdr iisvnsvdlr aasheqaaaa
      481 lknagqavti vaqyrpeeys rfeakihdlr eqmmnssiss gsgslrtsqk rslyvralfd
      541 ydktkdsglp sqglnfkfgd ilhvinasdd ewwqarqvtp dgesdevgvi pskrrvekke
      601 rarlktvkfn sktrdkgsfn dkrkknlfsr kfpfyknkdq seqetsdadq hvtsnasdse
      661 ssyrgqeeyv lsyepvnqqe vnytrpviil gpmkdrindd lisefpdkfg scvphttrpk
      721 rdyevdgrdy hfvtsreqme kdiqehkfie agqynnhlyg tsvqsvreva ekgkhcildv
      781 sgnaikrlqi aqlypisifi kpksmenime mnkrlteeqa rktferamkl eqeftehfta
      841 ivqgdtledi ynqvkqiiee qsgsyiwvpa kekl
//
LOCUS       NP_001350836             436 aa            linear   PRI 15-MAR-2023
DEFINITION  interferon regulatory factor 8 isoform 1 [Homo sapiens].
ACCESSION   NP_001350836 XP_024306021
VERSION     NP_001350836.1
DBSOURCE    REFSEQ: accession NM_001363907.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 436)
  AUTHORS   Liang KL, Roels J, Lavaert M, Putteman T, Boehme L, Tilleman L,
            Velghe I, Pegoretti V, Van de Walle I, Sontag S, Vandewalle J,
            Vandekerckhove B, Leclercq G, Van Vlierberghe P, Libert C, Van
            Nieuwerburgh F, Fischer R, Kontermann RE, Pfizenmaier K, Doody G,
            Zenke M and Taghon T.
  TITLE     Intrathymic dendritic cell-biased precursors promote human T cell
            lineage specification through IRF8-driven transmembrane TNF
  JOURNAL   Nat Immunol 24 (3), 474-486 (2023)
   PUBMED   36703005
  REMARK    GeneRIF: Intrathymic dendritic cell-biased precursors promote human
            T cell lineage specification through IRF8-driven transmembrane TNF.
REFERENCE   2  (residues 1 to 436)
  AUTHORS   Poschel DB, Kehinde-Ige M, Klement JD, Yang D, Merting AD, Savage
            NM, Shi H and Liu K.
  TITLE     IRF8 Regulates Intrinsic Ferroptosis through Repressing p53
            Expression to Maintain Tumor Cell Sensitivity to Cytotoxic T
            Lymphocytes
  JOURNAL   Cells 12 (2), 310 (2023)
   PUBMED   36672246
  REMARK    GeneRIF: IRF8 Regulates Intrinsic Ferroptosis through Repressing
            p53 Expression to Maintain Tumor Cell Sensitivity to Cytotoxic T
            Lymphocytes.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 436)
  AUTHORS   Nixon BG, Kuo F, Ji L, Liu M, Capistrano K, Do M, Franklin RA, Wu
            X, Kansler ER, Srivastava RM, Purohit TA, Sanchez A, Vuong L,
            Krishna C, Wang X, Morse Iii HC, Hsieh JJ, Chan TA, Murphy KM, Moon
            JJ, Hakimi AA and Li MO.
  TITLE     Tumor-associated macrophages expressing the transcription factor
            IRF8 promote T cell exhaustion in cancer
  JOURNAL   Immunity 55 (11), 2044-2058 (2022)
   PUBMED   36288724
  REMARK    GeneRIF: Tumor-associated macrophages expressing the transcription
            factor IRF8 promote T cell exhaustion in cancer.
REFERENCE   4  (residues 1 to 436)
  AUTHORS   McQuaid DC, Katz SG and Xu ML.
  TITLE     IRF8 as a Novel Marker to Differentiate Between CD30-Positive Large
            Cell Lymphomas
  JOURNAL   Am J Clin Pathol 158 (2), 173-176 (2022)
   PUBMED   35460405
  REMARK    GeneRIF: IRF8 as a Novel Marker to Differentiate Between
            CD30-Positive Large Cell Lymphomas.
REFERENCE   5  (residues 1 to 436)
  AUTHORS   Zhou T, Zhu X, Ye Z, Wang YF, Yao C, Xu N, Zhou M, Ma J, Qin Y,
            Shen Y, Tang Y, Yin Z, Xu H, Zhang Y, Zang X, Ding H, Yang W, Guo
            Y, Harley JB, Namjou B, Kaufman KM, Kottyan LC, Weirauch MT, Hou G
            and Shen N.
  TITLE     Lupus enhancer risk variant causes dysregulation of IRF8 through
            cooperative lncRNA and DNA methylation machinery
  JOURNAL   Nat Commun 13 (1), 1855 (2022)
   PUBMED   35388006
  REMARK    GeneRIF: Lupus enhancer risk variant causes dysregulation of IRF8
            through cooperative lncRNA and DNA methylation machinery.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 436)
  AUTHORS   Li W, Nagineni CN, Ge H, Efiok B, Chepelinsky AB and Egwuagu CE.
  TITLE     Interferon consensus sequence-binding protein is constitutively
            expressed and differentially regulated in the ocular lens
  JOURNAL   J Biol Chem 274 (14), 9686-9691 (1999)
   PUBMED   10092656
REFERENCE   7  (residues 1 to 436)
  AUTHORS   Schaper F, Kirchhoff S, Posern G, Koster M, Oumard A, Sharf R, Levi
            BZ and Hauser H.
  TITLE     Functional domains of interferon regulatory factor I (IRF-1)
  JOURNAL   Biochem J 335 (Pt 1) (Pt 1), 147-157 (1998)
   PUBMED   9742224
REFERENCE   8  (residues 1 to 436)
  AUTHORS   Holtschke T, Lohler J, Kanno Y, Fehr T, Giese N, Rosenbauer F, Lou
            J, Knobeloch KP, Gabriele L, Waring JF, Bachmann MF, Zinkernagel
            RM, Morse HC 3rd, Ozato K and Horak I.
  TITLE     Immunodeficiency and chronic myelogenous leukemia-like syndrome in
            mice with a targeted mutation of the ICSBP gene
  JOURNAL   Cell 87 (2), 307-317 (1996)
   PUBMED   8861914
REFERENCE   9  (residues 1 to 436)
  AUTHORS   Sharf R, Azriel A, Lejbkowicz F, Winograd SS, Ehrlich R and Levi
            BZ.
  TITLE     Functional domain analysis of interferon consensus sequence binding
            protein (ICSBP) and its association with interferon regulatory
            factors
  JOURNAL   J Biol Chem 270 (22), 13063-13069 (1995)
   PUBMED   7768900
REFERENCE   10 (residues 1 to 436)
  AUTHORS   Weisz A, Marx P, Sharf R, Appella E, Driggers PH, Ozato K and Levi
            BZ.
  TITLE     Human interferon consensus sequence binding protein is a negative
            regulator of enhancer elements common to interferon-inducible genes
  JOURNAL   J Biol Chem 267 (35), 25589-25596 (1992)
   PUBMED   1460054
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092723.3.
            On Jun 3, 2018 this sequence version replaced XP_024306021.1.
            
            Summary: Interferon consensus sequence-binding protein (ICSBP) is a
            transcription factor of the interferon (IFN) regulatory factor
            (IRF) family. Proteins of this family are composed of a conserved
            DNA-binding domain in the N-terminal region and a divergent
            C-terminal region that serves as the regulatory domain. The IRF
            family proteins bind to the IFN-stimulated response element (ISRE)
            and regulate expression of genes stimulated by type I IFNs, namely
            IFN-alpha and IFN-beta. IRF family proteins also control expression
            of IFN-alpha and IFN-beta-regulated genes that are induced by viral
            infection. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.634009.1,
                                           SRR14038197.2397336.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..436
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.1"
     Protein         1..436
                     /product="interferon regulatory factor 8 isoform 1"
                     /note="interferon consensus sequence binding protein 1"
                     /calculated_mol_wt=49237
     Region          19..123
                     /region_name="IRF"
                     /note="Interferon regulatory factor transcription factor;
                     pfam00605"
                     /db_xref="CDD:425772"
     Site            order(52,91,93..94,97)
                     /site_type="other"
                     /note="DNA sequence recognition sites [nucleotide
                     binding]"
                     /db_xref="CDD:238051"
     Site            order(96..97,99,102)
                     /site_type="metal-binding"
                     /db_xref="CDD:238051"
     Region          212..391
                     /region_name="IRF-3"
                     /note="Interferon-regulatory factor 3; pfam10401"
                     /db_xref="CDD:431258"
     CDS             1..436
                     /gene="IRF8"
                     /gene_synonym="H-ICSBP; ICSBP; ICSBP1; IMD32A; IMD32B;
                     IRF-8"
                     /coded_by="NM_001363907.1:32..1342"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="GeneID:3394"
                     /db_xref="HGNC:HGNC:5358"
                     /db_xref="MIM:601565"
ORIGIN      
        1 magvpeslnl mcdrnggrrl rqwlieqids smypgliwen eeksmfripw khagkqdynq
       61 evdasifkaw avfkgkfkeg dkaepatwkt rlrcalnksp dfeevtdrsq ldisepykvy
      121 rivpeeeqkc klgvatagcv nevtemecgr seidelikep svddymgmik rspsppeacr
      181 sqllpdwwaq qpstgvplvt gyttydahhs afsqmvisfy yggklvgqat ttcpegcrls
      241 lsqpglpgtk lygpeglelv rfppadaips erqrqvtrkl fghlergvll hssrqgvfvk
      301 rlcqgrvfcs gnavvckgrp nklerdevvq vfdtsqffre lqqfynsqgr lpdgrvvlcf
      361 geefpdmapl rsklilvqie qlyvrqlaee agkscgagsv mqapeepppd qvfrmfpdic
      421 ashqrsffre nqqitv
//
LOCUS       XP_047294961             634 aa            linear   PRI 20-MAR-2023
DEFINITION  transcriptional repressor p66-alpha isoform X5 [Homo sapiens].
ACCESSION   XP_047294961
VERSION     XP_047294961.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439005.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..634
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..634
                     /product="transcriptional repressor p66-alpha isoform X5"
                     /calculated_mol_wt=68003
     Region          137..173
                     /region_name="P66_CC"
                     /note="Coiled-coil and interaction region of P66A and P66B
                     with MBD2; pfam16563"
                     /db_xref="CDD:406867"
     Region          418..452
                     /region_name="GATA"
                     /note="GATA zinc finger; pfam00320"
                     /db_xref="CDD:425605"
     CDS             1..634
                     /gene="GATAD2A"
                     /gene_synonym="p66alpha"
                     /coded_by="XM_047439005.1:12807..14711"
                     /db_xref="GeneID:54815"
                     /db_xref="HGNC:HGNC:29989"
                     /db_xref="MIM:614997"
ORIGIN      
        1 mteeacrtrs qkralerdpt eddveskkik mergllasdl ntdgdmrvtp epgagptqgl
       61 lrateatama mgrgeglvgd gpvdmrtshs dmkserrpps pdvivlsdne qpssprvngl
      121 ttvalketst ealmksspee rermikqlke elrleeaklv llkklrqsqi qkeataqkpt
      181 gsvgstvttp pplvrgtqni pagkpslqts sarmpgsvip pplvrggqqa ssklgpqass
      241 qvvmpplvrg aqqihsirqh sstgppplll aprasvpsvq iqgqriiqqg lirvanvpnt
      301 sllvnipqpt paslkgttat saqanstpts vasvvtsaes pasrqaaakl alrkqlektl
      361 leipppkppa pemnflpsaa nnefiylvgl eevvqnllet qagrmsaatv lsrepymcaq
      421 cktdftcrwr eeksgaimce ncmttnqkka lkvehtsrlk aafvkalqqe qeieqrllqq
      481 gtapaqakae ptaaphpvlk qvikprrkla frsgeardws ngavlqassq lsrgsattpr
      541 gvlhtfspsp klqnsasata lvsrtgrhse rtvsagkgsa tsnwkktpls tggtlafvsp
      601 slavhksssa vdrqreylld mipprsipqs atwk
//
LOCUS       XP_047275288             894 aa            linear   PRI 20-MAR-2023
DEFINITION  epithelial discoidin domain-containing receptor 1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047275288
VERSION     XP_047275288.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419332.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..894
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..894
                     /product="epithelial discoidin domain-containing receptor
                     1 isoform X3"
                     /calculated_mol_wt=98934
     Region          78..202
                     /region_name="FA58C"
                     /note="Coagulation factor 5/8 C-terminal domain, discoidin
                     domain; Cell surface-attached carbohydrate-binding domain,
                     present in eukaryotes and assumed to have horizontally
                     transferred to eubacterial genomes; cd00057"
                     /db_xref="CDD:238014"
     Site            order(92,123,131)
                     /site_type="other"
                     /note="sugar binding site [chemical binding]"
                     /db_xref="CDD:238014"
     Region          585..888
                     /region_name="PTKc_DDR1"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Discoidin Domain Receptor 1; cd05096"
                     /db_xref="CDD:133227"
     Site            order(597..601,605,634,636,682..685,688..689,747,751..752,
                     754,765,783..787,796,831)
                     /site_type="active"
                     /db_xref="CDD:133227"
     Site            order(597..598,600..601,605,634,636,682..685,688..689,
                     751..752,754,765)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133227"
     Site            order(747,751,783..787,796,831)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133227"
     Site            764..789
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133227"
     CDS             1..894
                     /gene="DDR1"
                     /gene_synonym="CAK; CD167; DDR; EDDR1; HGK2; MCK10; NEP;
                     NTRK4; PTK3; PTK3A; RTK6; TRKE"
                     /coded_by="XM_047419332.1:388..3072"
                     /db_xref="GeneID:780"
                     /db_xref="HGNC:HGNC:2730"
                     /db_xref="MIM:600408"
ORIGIN      
        1 mslprccphp lrpegsgamg pealssllll llvasgdadm kghfdpakcr yalgmqdrti
       61 pdsdisasss wsdstaarhs rlessdgdga wcpagsvfpk eeeylqvdlq rlhlvalvgt
      121 qgrhagglgk efsrsyrlry srdgrrwmgw kdrwgqevis gnedpegvvl kdlgppmvar
      181 lvrfypradr vmsvclrvel ygclwrdgll sytapvgqtm ylseavylnd stydghtvgg
      241 lqygglgqla dgvvglddfr ksqelrvwpg ydyvgwsnhs fssgyvemef efdrlrafqa
      301 mqvhcnnmht lgarlpggve crfrrgpama wegepmrhnl ggnlgdprar avsvplggrv
      361 arflqcrflf agpwllfsei sfisdvvnns spalggtfpp apwwppgppp tnfsslelep
      421 rgqqpvakae gsptailigc lvaiilllll iialmlwrlh wrrllskaer rvleeeltvh
      481 lsvpgdtili nnrpgprepp pyqeprprgn pphsapcvpn gsaysgdyme pekpgapllp
      541 pppqnsvphy aeadivtlqg vtggntyavp alppgavgdg pprvdfprsr lrfkeklgeg
      601 qfgevhlcev dspqdlvsld fplnvrkghp llvavkilrp datknarndf lkevkimsrl
      661 kdpniirllg vcvqddplcm itdymengdl nqflsahqle dkaaegapgd gqaaqgptis
      721 ypmllhvaaq iasgmrylat lnfvhrdlat rnclvgenft ikiadfgmsr nlyagdyyrv
      781 qgravlpirw mawecilmgk fttasdvwaf gvtlwevlml craqpfgqlt deqvienage
      841 ffrdqgrqvy lsrppacpqg lyelmlrcws reseqrppfs qlhrflaeda lntv
//
LOCUS       XP_016869285            2695 aa            linear   PRI 20-MAR-2023
DEFINITION  thyroglobulin isoform X6 [Homo sapiens].
ACCESSION   XP_016869285
VERSION     XP_016869285.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017013796.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2695
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..2695
                     /product="thyroglobulin isoform X6"
                     /calculated_mol_wt=296607
     Region          33..92
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cd00191"
                     /db_xref="CDD:238114"
     Site            order(38,47,65,69)
                     /site_type="active"
                     /note="protease interaction site [active]"
                     /db_xref="CDD:238114"
     Region          95..160
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cd00191"
                     /db_xref="CDD:238114"
     Site            order(100,115,133,137)
                     /site_type="active"
                     /note="protease interaction site [active]"
                     /db_xref="CDD:238114"
     Region          300..358
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cd00191"
                     /db_xref="CDD:238114"
     Site            order(305,314,332,335)
                     /site_type="active"
                     /note="protease interaction site [active]"
                     /db_xref="CDD:238114"
     Region          599..658
                     /region_name="Thyroglobulin_1"
                     /note="Thyroglobulin type-1 repeat; pfam00086"
                     /db_xref="CDD:425459"
     Region          662..724
                     /region_name="Thyroglobulin_1"
                     /note="Thyroglobulin type-1 repeat; pfam00086"
                     /db_xref="CDD:425459"
     Site            order(666,682,700,702)
                     /site_type="active"
                     /note="protease interaction site [active]"
                     /db_xref="CDD:238114"
     Region          729..>776
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cl00150"
                     /db_xref="CDD:444714"
     Region          <892..922
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cl00150"
                     /db_xref="CDD:444714"
     Region          1004..1073
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cd00191"
                     /db_xref="CDD:238114"
     Site            order(1009,1026,1044,1048)
                     /site_type="active"
                     /note="protease interaction site [active]"
                     /db_xref="CDD:238114"
     Region          1077..1145
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cd00191"
                     /db_xref="CDD:238114"
     Site            order(1081,1103,1119,1123)
                     /site_type="active"
                     /note="protease interaction site [active]"
                     /db_xref="CDD:238114"
     Region          1149..1210
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats.; The N-terminal
                     region of human thyroglobulin contains 11 type-1 repeats
                     TY repeats are proposed to be inhibitors of cysteine
                     proteases; cd00191"
                     /db_xref="CDD:238114"
     Region          1392..1437
                     /region_name="Ephrin_rec_like"
                     /note="Putative ephrin-receptor like; pfam07699"
                     /db_xref="CDD:429604"
     Region          1447..1494
                     /region_name="TY"
                     /note="Thyroglobulin type I repeats; smart00211"
                     /db_xref="CDD:214561"
     Region          2124..2645
                     /region_name="COesterase"
                     /note="Carboxylesterase family; pfam00135"
                     /db_xref="CDD:395084"
     Site            order(2238..2240,2312..2314,2319,2469,2473..2474,2507,
                     2547,2555)
                     /site_type="other"
                     /note="substrate binding pocket [chemical binding]"
                     /db_xref="CDD:238191"
     Site            order(2313,2441,2546)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:238191"
     CDS             1..2695
                     /gene="TG"
                     /gene_synonym="AITD3; TGN"
                     /coded_by="XM_017013796.2:44..8131"
                     /db_xref="GeneID:7038"
                     /db_xref="HGNC:HGNC:11764"
                     /db_xref="MIM:188450"
ORIGIN      
        1 malvleiftl lasicwvsan ifeyqvdaqp lrpcelqret aflkqadyvp qcaedgsfqt
       61 vqcqndgrsc wcvgangsev lgsrqpgrpv aclsfcqlqk qqillsgyin stdtsylpqc
      121 qdsgdyapvq cdvqqvqcwc vdaegmevyg trqlgrpkrc prsceirnrr llhgvgdksp
      181 pqcsaegefm pvqckfvntt dmmifdlvhs ynrfpdafvt fssfqrrfpe vsgychcads
      241 qgrelaetgl ellldeiydt ifagldlpst ftettlyril qrrflavqsv isgrfrcptk
      301 ceverftats fghpyvpscr rngdyqavqc qtegpcwcvd aqgkemhgtr qqgeppscae
      361 gqscaserqq alsrlyfgts gyfsqhdlfs spekrwaspr varfatscpp tikelfvdsg
      421 llrpmvegqs qqfsvsenll keairaifps rglarlalqf ttnpkrlqqn lfggkflvnv
      481 gqfnlsgalg trgtfnfsqf fqqlglasfl nggrqedlak plsvgldsns stgtpeaakk
      541 dgtmnkptvg sfgfeinlqe nqnalkflas llelpefllf lqhaisvped vardlgdvme
      601 tvlssqtceq tperlfvpsc ttegsyedvq cfsgecwcvn swgkelpgsr vrggqprcpt
      661 dcekqrarmq slmgsqpags tlfvpactse ghflpvqcfn secycvdaeg qaipgtrsai
      721 gkpkkcptpc qlqseqaflr tvqallsnss mlptlsdtyi pqcstdgqwr qvqcngppeq
      781 vfelyqrwea qnkgqdltpa kllvkimsyr eaasgnfslf iqslyeagqq dvfpvlsqyp
      841 slqdvplaal egkrpqpren illepylfwq ilngqlsqyp gsysdfstpl ahfdlrncwc
      901 vdeagqeleg mrsepsklpt cpgsceeakl rvlqfirete eivsasnssr fplgesflva
      961 kgirlrnedl glpplfppre afaeqflrgs dyairlaaqs tlsfyqrrrf spddsagasa
     1021 llrsgpympq cdafgswepv qchagtghcw cvdekggfip gsltarslqi pqcpttceks
     1081 rtsgllsswk qarsqenpsp kdlfvpacle tgeyarlqas gagtwcvdpa sgeelrpgss
     1141 ssaqcpslcn vlksgvlsrr vspgyvpacr aedggfspvq cdqaqgscwc vmdsgeevpg
     1201 trvtggqpac esprcplpfn asevvggtil cetisgptgs amqqcqllcr qgswsvfppg
     1261 plicslesgr wesqlpqpra cqrpqlwqti qtqghfqlql ppgkmcsady adllqtfqvf
     1321 ildeltargf cqiqvktfgt lvsipvcnns svqvgcltre rlgvnvtwks rledipvasl
     1381 pdlhdivkcp egsysqdeec ipcpvgfyqe qagslacvpc pvgrttisag afsqthcvtd
     1441 cqrneaglqc dqngqyrasq kdrgsgkafc vdgegrrlpw weteapleds qclmmqkfek
     1501 vpeskvifda napvavrskv pdsefpvmqc ltdctedeac sfftvsttep eiscdfyawt
     1561 sdnvacmtsd qkrdalgnsk atsfgslrcq vkvrshgqds pavylkkgqg stttlqkrfe
     1621 ptgfqnmlsg lynpivfsas ganltdahlf cllacdrdlc cdgfvltqvq ggaiicglls
     1681 spsvllcnvk dwmdpseawa natcpgvtyd qeshqvilrl gdqefikslt plegtqdtft
     1741 nfqqvylwkd sdmgsrpesm gcrkdtvprp aspteagltt elfspvdlnq vivngnqsls
     1801 sqkhwlfkhl fsaqqanlwc lsrcvqehsf cqlaeitesa slyftctlyp eaqvcddime
     1861 snaqgcrlil pqmpkalfrk kviledkvkn fytrlpfqkl mgisirnkvp mseksisngf
     1921 fecerrcdad pcctgfgfln vsqlkggevt cltlnslgiq mcseenggaw rildcgspdi
     1981 evhtypfgwy qkpiaqnnap sfcplvvlps ltekvsldsw qslalssvvv dpsirhfdva
     2041 hvstaatsnf savrdlclse csqheaclit tlqtqpgavr cmfyadtqsc thslqgqncr
     2101 lllreeathi yrkpgislls yeasvpsvpi sthgrllgrs qaiqvgtswk qvdqflgvpy
     2161 aapplaerrf qapeplnwtg swdaskpras cwqpgtrtst spgvsedcly lnvfipqnva
     2221 pnasvlvffh ntmdreeseg wpaidgsfla avgnlivvta syrvgvfgfl ssgsgevsgn
     2281 wglldqvaal twvqthirgf ggdprrvsla adrggadvas ihlltaratn sqlfrravlm
     2341 ggsalspaav isheraqqqa ialakevscp msssqevvsc lrqkpanvln daqtkllavs
     2401 gpfhywgpvi dghflreppa ralkrslwve vdlligssqd dglinrakav kqfeesrgrt
     2461 ssktafyqal qnslggedsd arveaaatwy yslehstddy asfsralena trdyfiicpi
     2521 idmasawakr argnvfmyha penyghgsle lladvqfalg lpfypayegq fsleekslsl
     2581 kimqyfshfi rsgnpnypye fsrkvptfat pwpdfvprag genykefsel lpnrqglkka
     2641 dcsfwskyis slktsadgak ggqsaeseee eltagsglre dllslqepgs ktysk
//
LOCUS       XP_054233409            2553 aa            linear   PRI 20-MAR-2023
DEFINITION  aggrecan core protein isoform X1 [Homo sapiens].
ACCESSION   XP_054233409
VERSION     XP_054233409.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377434.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2553
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2553
                     /product="aggrecan core protein isoform X1"
                     /calculated_mol_wt=263459
     CDS             1..2553
                     /gene="ACAN"
                     /gene_synonym="AGC1; AGCAN; CSPG1; CSPGCP; MSK16; SEDK;
                     SSOAOD"
                     /coded_by="XM_054377434.1:382..8043"
                     /db_xref="GeneID:176"
                     /db_xref="HGNC:HGNC:319"
                     /db_xref="MIM:155760"
ORIGIN      
        1 mttllwvfvt lrvitaavtv etsdhdnsls vsipqpsplr vllgtsltip cyfidpmhpv
       61 ttapstapla prikwsrvsk ekevvllvat egrvrvnsay qdkvslpnyp aipsdatlev
      121 qslrsndsgv yrcevmhgie dseatlevvv kgivfhyrai strytldfdr aqraclqnsa
      181 iiatpeqlqa ayedgfhqcd agwladqtvr ypihtpregc ygdkdefpgv rtygirdtne
      241 tydvycfaee megevfyats pekftfqeaa necrrlgarl attgqlylaw qagmdmcsag
      301 wladrsvryp iskarpncgg nllgvrtvyv hanqtgypdp ssrydaicyt gedfvdipen
      361 ffgvggeedi tvqtvtwpdm elplprnite geargsvilt vkpifevsps plepeepftf
      421 apeigatafa evenetgeat rpwgfptpgl gpataftsed lvvqvtavpg qphlpggvvf
      481 hyrpgptrys ltfeeaqqac lrtgaviasp eqlqaayeag yeqcdagwlr dqtvrypivs
      541 prtpcvgdkd sspgvrtygv rpstetydvy cfvdrlegev ffatrleqft fqealefces
      601 hnatlattgq lyaawsrgld kcyagwladg slrypivtpr pacggdkpgv rtvylypnqt
      661 glpdplsrhh afcfrgisav pspgeeeggt ptspsgveew ivtqvvpgva avpveeetta
      721 vpsgettail efttepenqt ewepaytpvg tsplpgilpt wpptgaatee stegpsatev
      781 psaseepsps evpfpseeps pseepfpsvr pfpsvelfps eepfpskeps pseepsasee
      841 pytpsppvps wtelpssgee sgapdvsgdf tgsgdvsghl dfsgqlsgdr asglpsgdld
      901 ssgltstvgs glpvesglps gdeeriewps tptvgelpsg aeilegsasg vgdlsglpsg
      961 evletsasgv gdlsglpsge vlettapgve disglpsgev lettapgved isglpsgevl
     1021 ettapgvedi sglpsgevle ttapgvedis glpsgevlet tapgvedisg lpsgevlett
     1081 apgvedisgl psgevletaa pgvedisglp sgevletaap gvedisglps gevletaapg
     1141 vedisglpsg evletaapgv edisglpsge vletaapgve disglpsgev letaapgved
     1201 isglpsgevl etaapgvedi sglpsgevle taapgvedis glpsgevlet aapgvedisg
     1261 lpsgevleta apgvedisgl psgevletaa pgvedisglp sgevletaap gvedisglps
     1321 gevletaapg vedisglpsg evletaapgv edisglpsge vletaapgve disglpsgev
     1381 letaapgved isglpsgevl ettapgveei sglpsgevle ttapgvdeis glpsgevlet
     1441 tapgveeisg lpsgevlets tsavgdlsgl psggevleis vsgvedisgl psgevvetsa
     1501 sgiedvselp sgegletsas gvedlsrlps geevleisas gfgdlsglps ggegletsas
     1561 evgtdlsglp sgregletsa sgaedlsglp sgkedlvgsa sgdldlgklp sgtlgsgqap
     1621 etsglpsgfs geysgvdlgs gppsglpdfs glpsgfptvs lvdstlvevv tastaseleg
     1681 rgtigisgag eisglpssel disgrasglp sgtelsgqas gspdvsgeip glfgvsgqps
     1741 gfpdtsgets gvtelsglss gqpgisgeas gvlygtsqpf gitdlsgets gvpdlsgqps
     1801 glpgfsgats gvpdlvsgtt sgsgessgit fvdtslveva pttfkeeegl gsvelsglps
     1861 geadlsgksg mvdvsgqfsg tvdssgftsq tpefsglpsg iaevsgessr aeigsslpsg
     1921 ayygsgtpss fptvslvdrt lvesvtqapt aqeagegpsg ilelsgahsg apdmsgehsg
     1981 fldlsglqsg liepsgeppg tpyfsgdfas ttnvsgessv amgtsgeasg lpevtlitse
     2041 fvegvtepti sqelgqrppv thtpqlfess gkvstagdis gatpvlpgsg vevssvpess
     2101 setsaypeag fgasaapeas redsgspdls ettsafhean lerssglgvs gstltfqege
     2161 asaapevsge stttsdvgte apglpsatpt asgdrteisg dlsghtsqlg vvistsipes
     2221 ewtqqtqrpa ethleiesss llysgeetht vetatsptda sipaspewkr esestaadid
     2281 eclsspclng atcvdaidsf tclclpsyeg dlceidqevc eegwnkyqgh cyrhfpdret
     2341 wvdaerrcre qqshlssivt peeqefvnnn aqdyqwigln drtiegdfrw sdghpmqfen
     2401 wrpnqpdnff aagedcvvmi whekgewndv pcnyhlpftc kkgtvacgep pvvehartfg
     2461 qkkdryeins lvryqctegf vqrhmptirc qpsghweepq itctdrehhp ghlaehrvrf
     2521 cqhslppvps pgdptpstgl skgrevggll shk
//
LOCUS       XP_054179735             388 aa            linear   PRI 20-MAR-2023
DEFINITION  protein NDRG3 isoform X3 [Homo sapiens].
ACCESSION   XP_054179735
VERSION     XP_054179735.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323760.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..388
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..388
                     /product="protein NDRG3 isoform X3"
                     /calculated_mol_wt=42719
     CDS             1..388
                     /gene="NDRG3"
                     /coded_by="XM_054323760.1:95..1261"
                     /db_xref="GeneID:57446"
                     /db_xref="HGNC:HGNC:14462"
                     /db_xref="MIM:605273"
ORIGIN      
        1 mdelqdvqlt eikpllndkn gtrnfqdfdc qehdietthg vvhvtirglp kgnrpvilty
       61 hdiglnhksc fnaffnfedm qeitqhfavc hvdapgqqeg apsfptgyqy ptmdelaeml
      121 ppvlthlslk siigigvgag ayilsrfaln hpelveglvl invdpcakgw idwaasklsg
      181 lttnvvdiil ahhfgqeelq anldliqtyr mhiaqdinqd nlqlflnsyn grrdleierp
      241 ilgqndnksk tlkcstllvv gdnspaveav vecnsrlnpi nttllkmadc gglpqvvqpg
      301 klteafkyfl qgmgyipyvq lshlstesvp sasmtrlars rthstssslg sgespfsrsv
      361 tsnqsdgtqe scespdvldr hqtmevsc
//
LOCUS       XP_054182034             929 aa            linear   PRI 20-MAR-2023
DEFINITION  MICAL-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054182034
VERSION     XP_054182034.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326059.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..929
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..929
                     /product="MICAL-like protein 1 isoform X1"
                     /calculated_mol_wt=100227
     CDS             1..929
                     /gene="MICALL1"
                     /gene_synonym="MICAL-L1; MIRAB13"
                     /coded_by="XM_054326059.1:127..2916"
                     /db_xref="GeneID:85377"
                     /db_xref="HGNC:HGNC:29804"
                     /db_xref="MIM:619563"
ORIGIN      
        1 magprgalla wcrrqcegyr gveirdlsss frdglafcai lhrhrpdlld fdslskdnvf
       61 ennrlafeva ekelgipall dpndmvsmsv pdclsimtyv sqyynhfcsp gqagvspprk
      121 glapcsppsv aptpvepedv aqgeelssgs lseqgtgqtp sstcaacqqh vhlvqrylad
      181 grlyhrhcfr crrcsstllp gayengpeeg tfvcaehcar lgpgtrsgtr pgpfsqpkqq
      241 hqqqlaedak dvpgggpsss apagaeadgp kaspearpqi ptkprvpgkl qelasppagr
      301 ptpaprkase sttpapptpr prsslqqenl veqagssslv ngrlhelpvp kprgtpkpse
      361 gtpaprkdpp witlvqaepk kkpaplppss spgppsqdsr qvenggteev aqpsptasle
      421 skpynpfeee eedkeeeapa apslatspal ghpestpksl hpwygitpts spktkkrpap
      481 rapsaspldn vfgsiisish eeinwcpavp vpelvaaraa cssplpphcr sgaeegpplf
      541 lwhsqalhas rlshseppsa tpspalsves lssesasqta gaelleppav pksssepavh
      601 apgtpgnpvs lstnsslass gelveprveq mpqaspglap rtrgssgpqp akpcsgatpt
      661 plllvgdrsp vpspgssspq lqvksscken pfnrkpspaa spatkkatkg skpvrppapg
      721 hgfplikrkv qadqyipeed ihgemdtier rldalehrgv lleeklrggl negreddmlv
      781 dwfklihekh llvrreseli yvfkqqnleq rqadveyelr cllnkpekdw teedrarekv
      841 lmqelvtlie qrnaiincld edrqreeeed kmleamikkk gealagdeae fqreaepegk
      901 kkgkfktmkm lkllgnkrda ksksprdks
//
LOCUS       XP_054206514             837 aa            linear   PRI 20-MAR-2023
DEFINITION  follistatin-related protein 5 isoform X3 [Homo sapiens].
ACCESSION   XP_054206514
VERSION     XP_054206514.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350539.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..837
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..837
                     /product="follistatin-related protein 5 isoform X3"
                     /calculated_mol_wt=94466
     CDS             1..837
                     /gene="FSTL5"
                     /coded_by="XM_054350539.1:1198..3711"
                     /db_xref="GeneID:56884"
                     /db_xref="HGNC:HGNC:21386"
                     /db_xref="MIM:620128"
ORIGIN      
        1 mfkcwsvvlv lgfifleseg rptkeggygl ksyqplmrlr hkeknqessr vkgfmiqdgp
       61 fgscenkycg lgrhcvtsre tgqaecacmd lckrhykpvc gsdgefyenh cevhraaclk
      121 kqkitivhne dcffkgdkck tteyskmknm lldlqnqkyi mqenenpngd disrkkllvd
      181 qmfkyfdads nglvdinelt qvikqeelgk dlfdctlyvl lkyddfnadk hlaleefyra
      241 fqviqlslpe dqklsitaat vgqsavlsca iqgtlrppii wkrnniilnn ldledindfg
      301 ddgslyitkv ttthvgnytc yadgyeqvyq thifqvnvpp virvypesqa repgvtaslr
      361 chaegipkpq lgwlkngidi tpklskqltl qangsevhis nvryedtgay tciakneagv
      421 dedisslfve dsarktrlgi gnmfyvfyed gikviqpiec efqrhikpse kllgfqdevc
      481 pkaegdevqr cvwasavnvk dkfiyvaqpt ldrvlivdvq sqkvvqavst dpvpvklhyd
      541 kshdqvwvls wgtlektspt lqvitlasgn vphhtihtqp vgkqfdrvdd ffiptttlii
      601 thmrfgfilh kdeaalqkid letmsyikti nlkdykcvpq slaythlggy yfigckpdst
      661 gavspqvmvd gvtdsvigfn sdvtgtpyvs pdghylvsin dvkglvrvqy itirgeiqea
      721 fdiytnlhis dlafqpsfte ahqyniygss stqtdvlfve lssgkvkmik slkeplkaee
      781 wpwnrknrqi qdsglfgqyl mtpskdslfi ldgrlnklnc eitevekgnt viwvgda
//
LOCUS       XP_054209555             221 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM7 isoform X1 [Homo sapiens].
ACCESSION   XP_054209555
VERSION     XP_054209555.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353580.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..221
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..221
                     /product="E3 ubiquitin-protein ligase TRIM7 isoform X1"
                     /calculated_mol_wt=23570
     CDS             1..221
                     /gene="TRIM7"
                     /gene_synonym="GNIP; RNF90"
                     /coded_by="XM_054353580.1:3409..4074"
                     /db_xref="GeneID:81786"
                     /db_xref="HGNC:HGNC:16278"
                     /db_xref="MIM:609315"
ORIGIN      
        1 maavgprtgp gtgaealala aelqgeatcs iclelfrepv svecghsfcr acigrcwerp
       61 gagsvgaatr appfplpcpq creparpsql rpnrelaava tllrrfslpa aapgehgsqa
      121 aaaraaaarc gqhgepfkly cqddgraicv vcdrarehre havlpldeav qeakellesr
      181 lrvlkkeled cevfrstekk eskellvsqa pagppwdite a
//
LOCUS       XP_054215920             281 aa            linear   PRI 20-MAR-2023
DEFINITION  elongation factor 1-delta isoform X11 [Homo sapiens].
ACCESSION   XP_054215920
VERSION     XP_054215920.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359945.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 8% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..281
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..281
                     /product="elongation factor 1-delta isoform X11"
                     /calculated_mol_wt=30991
     CDS             1..281
                     /gene="EEF1D"
                     /gene_synonym="EF-1D; EF1D; FP1047"
                     /coded_by="XM_054359945.1:542..1387"
                     /db_xref="GeneID:1936"
                     /db_xref="HGNC:HGNC:3211"
                     /db_xref="MIM:130592"
ORIGIN      
        1 matnflahek iwfdkfkydd aerrfyeqmn gpvagasrqe ngasvilrdi arareniqks
       61 lagssgpgas sgtsgdhgel vvriasleve nqslrgvvqe lqqaisklea rlnvlekssp
      121 ghratapqtq hvspmrqvep pakkpatpae ddedddidlf gsdneeedke aaqlreerlr
      181 qyaekkakkp alvakssill dvkpwddetd maqleacvrs iqldglvwga sklvpvgygi
      241 rklqiqcvve ddkvgtdlle eeitkfeehv qsvdiaafnk i
//
LOCUS       NP_001029025             354 aa            linear   PRI 22-MAR-2023
DEFINITION  60S ribosomal protein L3 isoform b [Homo sapiens].
ACCESSION   NP_001029025
VERSION     NP_001029025.1
DBSOURCE    REFSEQ: accession NM_001033853.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 354)
  AUTHORS   Deng N, Zhang X and Zhang Y.
  TITLE     BAIAP2L1 accelerates breast cancer progression and chemoresistance
            by activating AKT signaling through binding with ribosomal protein
            L3
  JOURNAL   Cancer Sci 114 (3), 764-780 (2023)
   PUBMED   36308067
  REMARK    GeneRIF: BAIAP2L1 accelerates breast cancer progression and
            chemoresistance by activating AKT signaling through binding with
            ribosomal protein L3.
REFERENCE   2  (residues 1 to 354)
  AUTHORS   Du C, Wang T, Jia J, Li J, Xiao Y, Wang J, Mao P, Wang N, Shi L and
            Wang M.
  TITLE     Suppression of RPL34 Inhibits Tumor Cell Proliferation and Promotes
            Apoptosis in Glioblastoma
  JOURNAL   Appl Biochem Biotechnol 194 (8), 3494-3506 (2022)
   PUBMED   35377127
  REMARK    GeneRIF: Suppression of RPL34 Inhibits Tumor Cell Proliferation and
            Promotes Apoptosis in Glioblastoma.
REFERENCE   3  (residues 1 to 354)
  AUTHORS   Matsuura-Suzuki E, Shimazu T, Takahashi M, Kotoshiba K, Suzuki T,
            Kashiwagi K, Sohtome Y, Akakabe M, Sodeoka M, Dohmae N, Ito T,
            Shinkai Y and Iwasaki S.
  TITLE     METTL18-mediated histidine methylation of RPL3 modulates
            translation elongation for proteostasis maintenance
  JOURNAL   Elife 11, e72780 (2022)
   PUBMED   35674491
  REMARK    GeneRIF: METTL18-mediated histidine methylation of RPL3 modulates
            translation elongation for proteostasis maintenance.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 354)
  AUTHORS   Malecki JM, Odonohue MF, Kim Y, Jakobsson ME, Gessa L, Pinto R, Wu
            J, Davydova E, Moen A, Olsen JV, Thiede B, Gleizes PE, Leidel SA
            and Falnes PO.
  TITLE     Human METTL18 is a histidine-specific methyltransferase that
            targets RPL3 and affects ribosome biogenesis and function
  JOURNAL   Nucleic Acids Res 49 (6), 3185-3203 (2021)
   PUBMED   33693809
  REMARK    GeneRIF: Human METTL18 is a histidine-specific methyltransferase
            that targets RPL3 and affects ribosome biogenesis and function.
REFERENCE   5  (residues 1 to 354)
  AUTHORS   Mosca L, Pagano M, Pecoraro A, Borzacchiello L, Mele L, Cacciapuoti
            G, Porcelli M, Russo G and Russo A.
  TITLE     S-Adenosyl-l-Methionine Overcomes uL3-Mediated Drug Resistance in
            p53 Deleted Colon Cancer Cells
  JOURNAL   Int J Mol Sci 22 (1), 103 (2020)
   PUBMED   33374288
  REMARK    GeneRIF: S-Adenosyl-l-Methionine Overcomes uL3-Mediated Drug
            Resistance in p53 Deleted Colon Cancer Cells.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 354)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   7  (residues 1 to 354)
  AUTHORS   Van Raay TJ, Connors TD, Klinger KW, Landes GM and Burn TC.
  TITLE     A novel ribosomal protein L3-like gene (RPL3L) maps to the
            autosomal dominant polycystic kidney disease gene region
  JOURNAL   Genomics 37 (2), 172-176 (1996)
   PUBMED   8921388
REFERENCE   8  (residues 1 to 354)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (residues 1 to 354)
  AUTHORS   Reddy TR, Suhasini M, Rappaport J, Looney DJ, Kraus G and
            Wong-Staal F.
  TITLE     Molecular cloning and characterization of a TAR-binding nuclear
            factor from T cells
  JOURNAL   AIDS Res Hum Retroviruses 11 (6), 663-669 (1995)
   PUBMED   7576925
REFERENCE   10 (residues 1 to 354)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK092695.1, BC008492.1 and
            BC071666.1.
            
            Summary: Ribosomes, the complexes that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L3P family of ribosomal proteins and it is located in the
            cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has
            been suggested that the protein contributes to tat-mediated
            transactivation. This gene is co-transcribed with several small
            nucleolar RNA genes, which are located in several of this gene's
            introns. Alternate transcriptional splice variants, encoding
            different isoforms, have been characterized. As is typical for
            genes encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed through the genome. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) uses alternate in-frame splice
            sites in two exons, compared to variant 1, resulting in a shorter
            protein (isoform b).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK092695.1, SRR7346977.84346.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     Protein         1..354
                     /product="60S ribosomal protein L3 isoform b"
                     /EC_number="3.6.5.3"
                     /note="60S ribosomal protein L3; HIV-1 TAR RNA-binding
                     protein B; large ribosomal subunit protein uL3"
                     /calculated_mol_wt=40021
     Region          1..351
                     /region_name="PTZ00103"
                     /note="60S ribosomal protein L3; Provisional"
                     /db_xref="CDD:240267"
     CDS             1..354
                     /gene="RPL3"
                     /gene_synonym="ASC-1; L3; TARBP-B; uL3"
                     /coded_by="NM_001033853.2:27..1091"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="GeneID:6122"
                     /db_xref="HGNC:HGNC:10332"
                     /db_xref="MIM:604163"
ORIGIN      
        1 mshrkfsapr hgslgflprk rssrhrgkvk sfpkddpskp vhltaflgyk agmthivrev
       61 drpgskvnkk evveavtive tppmvvvgiv gyvetprglr tfktvfaehi sdeckrrfyk
      121 nwhkskkkah lmeiqvnggt vaekldware rleqqvpvnq vfgqdemidv igvtkgkgyk
      181 gvtsrwhtkk lprkthrglr kvacigawhp arvafsvara gqkgyhhrte inkkiykigq
      241 gylikdgkli knnastdydl sdksinplgg fvhygevtnd fvmlkgcvvg tkkrvltlrk
      301 sllvqtkrra lekidlkfid ttskfghgrf qtmeekkafm gplkkdriak eega
//
LOCUS       NP_001336201             480 aa            linear   PRI 23-DEC-2022
DEFINITION  transmembrane and coiled-coil domains protein 1 isoform e [Homo
            sapiens].
ACCESSION   NP_001336201 XP_006713615
VERSION     NP_001336201.1
DBSOURCE    REFSEQ: accession NM_001349272.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 480)
  AUTHORS   Hoyer MJ, Chitwood PJ, Ebmeier CC, Striepen JF, Qi RZ, Old WM and
            Voeltz GK.
  TITLE     A Novel Class of ER Membrane Proteins Regulates ER-Associated
            Endosome Fission
  JOURNAL   Cell 175 (1), 254-265 (2018)
   PUBMED   30220460
REFERENCE   2  (residues 1 to 480)
  AUTHORS   Zhang C, Kho YS, Wang Z, Chiang YT, Ng GK, Shaw PC, Wang Y and Qi
            RZ.
  TITLE     Transmembrane and coiled-coil domain family 1 is a novel protein of
            the endoplasmic reticulum
  JOURNAL   PLoS One 9 (1), e85206 (2014)
   PUBMED   24454821
  REMARK    GeneRIF: roles of TMCC1 in ER organization
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 480)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human RPE/choroid for the
            NEIBank Project: over 6000 non-redundant transcripts, novel genes
            and splice variants
  JOURNAL   Mol Vis 8, 205-220 (2002)
   PUBMED   12107410
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC083799.17, AC117492.17 and AC023162.41.
            On Mar 10, 2017 this sequence version replaced XP_006713615.1.
            
            Transcript Variant: This variant (13) encodes isoform e.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.81460.1,
                                           SRR1660803.194715.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..480
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     Protein         1..480
                     /product="transmembrane and coiled-coil domains protein 1
                     isoform e"
                     /calculated_mol_wt=53436
     Region          57..465
                     /region_name="Tmemb_cc2"
                     /note="Predicted transmembrane and coiled-coil 2 protein;
                     pfam10267"
                     /db_xref="CDD:431185"
     CDS             1..480
                     /gene="TMCC1"
                     /coded_by="NM_001349272.1:202..1644"
                     /note="isoform e is encoded by transcript variant 13"
                     /db_xref="GeneID:23023"
                     /db_xref="HGNC:HGNC:29116"
                     /db_xref="MIM:616242"
ORIGIN      
        1 mwcgctclfc eshfsetvki erlevsslaq tssavasstd gsihtdsvdg tpdpqrtkaa
       61 iahlqqkilk lteqikiaqt arddnvaeyl klansadkqq aarikqvfek knqksaqtil
      121 qlqkklehyh rklreveqng iprqpkdvfr dmhqglkdvg akvtgfsegv vdsvkggfss
      181 fsqathsaag avvskpreia slirnkfgsa dnipnlkdsl eegqvddagk algvisnfqs
      241 spkygseedc ssatsgsvga nsttggiavg asssktntld mqssgfdall heiqeiretq
      301 arleesfetl kehyqrdysl imqtlqeery rcerleeqln dltelhqnei lnlkqelasm
      361 eekiayqsye rardiqeale acqtriskme lqqqqqqvvq leglenatar nllgklinil
      421 lavmavllvf vstvancvvp lmktrnrtfs tlflvvfiaf lwkhwdalfs yverffsspr
//
LOCUS       NP_001034669             647 aa            linear   PRI 25-DEC-2022
DEFINITION  microtubule-associated protein 9 [Homo sapiens].
ACCESSION   NP_001034669
VERSION     NP_001034669.1
DBSOURCE    REFSEQ: accession NM_001039580.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 647)
  AUTHORS   Xiao H, Sun J, Huang W, Liu W, Zhang Y, Wang H and Luo B.
  TITLE     Expression of MAP9 in Epstein-Barr virus-associated gastric
            carcinoma
  JOURNAL   Virus Res 293, 198253 (2021)
   PUBMED   33309912
  REMARK    GeneRIF: Expression of MAP9 in Epstein-Barr virus-associated
            gastric carcinoma.
REFERENCE   2  (residues 1 to 647)
  AUTHORS   Mok EHK, Leung CON and Lee TKW.
  TITLE     MAP9/ERCC3 signaling cascade: A new insight on understanding the
            chromosomal instability in hepatocellular carcinoma
  JOURNAL   EBioMedicine 54, 102709 (2020)
   PUBMED   32268270
  REMARK    GeneRIF: MAP9/ERCC3 signaling cascade: A new insight on
            understanding the chromosomal instability in hepatocellular
            carcinoma.
REFERENCE   3  (residues 1 to 647)
  AUTHORS   Zhang J, Huang JZ, Zhang YQ, Zhang X, Zhao LY, Li CG, Zhou YF, Wei
            H and Yu J.
  TITLE     Microtubule associated protein 9 inhibits liver tumorigenesis by
            suppressing ERCC3
  JOURNAL   EBioMedicine 53, 102701 (2020)
   PUBMED   32151798
  REMARK    GeneRIF: Microtubule associated protein 9 inhibits liver
            tumorigenesis by suppressing ERCC3.
REFERENCE   4  (residues 1 to 647)
  AUTHORS   Wang S, Huang J, Li C, Zhao L, Wong CC, Zhai J, Zhou Y, Deng W,
            Zeng Y, Gao S, Zhang Y, Wang G, Guan XY, Wei H, Wong SH, He HH,
            Shay JW and Yu J.
  TITLE     MAP9 Loss Triggers Chromosomal Instability, Initiates Colorectal
            Tumorigenesis, and Is Associated with Poor Survival of Patients
            with Colorectal Cancer
  JOURNAL   Clin Cancer Res 26 (3), 746-757 (2020)
   PUBMED   31662330
  REMARK    GeneRIF: MAP9 Loss Triggers Chromosomal Instability, Initiates
            Colorectal Tumorigenesis, and Is Associated with Poor Survival of
            Patients with Colorectal Cancer.
REFERENCE   5  (residues 1 to 647)
  AUTHORS   Kong Y, Nie ZK, Li F, Guo HM, Yang XL and Ding SF.
  TITLE     MiR-320a was highly expressed in postmenopausal osteoporosis and
            acts as a negative regulator in MC3T3E1 cells by reducing MAP9 and
            inhibiting PI3K/AKT signaling pathway
  JOURNAL   Exp Mol Pathol 110, 104282 (2019)
   PUBMED   31301305
  REMARK    GeneRIF: Data suggest miR-320a/microtubule-associated protein 9
            (MAP9) as promising targets for the treatment and prevention of
            postmenopausal osteoporosis (PMO).
REFERENCE   6  (residues 1 to 647)
  AUTHORS   Rouquier S, Pillaire MJ, Cazaux C and Giorgi D.
  TITLE     Expression of the microtubule-associated protein MAP9/ASAP and its
            partners AURKA and PLK1 in colorectal and breast cancers
  JOURNAL   Dis Markers 2014, 798170 (2014)
   PUBMED   24876664
  REMARK    GeneRIF: MAP9 downregulation is associated with colorectal
            malignancy.
REFERENCE   7  (residues 1 to 647)
  AUTHORS   Basbous J, Knani D, Bonneaud N, Giorgi D, Brondello JM and Rouquier
            S.
  TITLE     Induction of ASAP (MAP9) contributes to p53 stabilization in
            response to DNA damage
  JOURNAL   Cell Cycle 11 (12), 2380-2390 (2012)
   PUBMED   22672907
  REMARK    GeneRIF: ASAP stabilizes p53 both by alleviating MDM2-mediated p53
            ubiquitination and by enhancing its p300-dependent acetylation.
REFERENCE   8  (residues 1 to 647)
  AUTHORS   Eot-Houllier G, Venoux M, Vidal-Eychenie S, Hoang MT, Giorgi D and
            Rouquier S.
  TITLE     Plk1 regulates both ASAP localization and its role in spindle pole
            integrity
  JOURNAL   J Biol Chem 285 (38), 29556-29568 (2010)
   PUBMED   20615875
  REMARK    GeneRIF: Results highlight dual ASAP regulation by Plk1 and further
            confirm the importance of ASAP for spindle pole organization,
            bipolar spindle assembly, and mitosis.
REFERENCE   9  (residues 1 to 647)
  AUTHORS   Venoux M, Basbous J, Berthenet C, Prigent C, Fernandez A, Lamb NJ
            and Rouquier S.
  TITLE     ASAP is a novel substrate of the oncogenic mitotic kinase Aurora-A:
            phosphorylation on Ser625 is essential to spindle formation and
            mitosis
  JOURNAL   Hum Mol Genet 17 (2), 215-224 (2008)
   PUBMED   17925329
  REMARK    GeneRIF: Study demonstrates that AurA-mediated phosphorylation of
            ASAP is essential to spindle formation and mitosis.
REFERENCE   10 (residues 1 to 647)
  AUTHORS   Saffin JM, Venoux M, Prigent C, Espeut J, Poulat F, Giorgi D,
            Abrieu A and Rouquier S.
  TITLE     ASAP, a human microtubule-associated protein required for bipolar
            spindle assembly and cytokinesis
  JOURNAL   Proc Natl Acad Sci U S A 102 (32), 11302-11307 (2005)
   PUBMED   16049101
  REMARK    GeneRIF: ASAP is a human microtubule-associated protein required
            for bipolar spindle assembly and cytokinesis.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY690636.1, BC022852.1, CF144347.1 and AC097467.1.
            
            Summary: ASAP is a microtubule-associated protein required for
            spindle function, mitotic progression, and cytokinesis (Saffin et
            al., 2005 [PubMed 16049101]).[supplied by OMIM, Mar 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC146864.1, AY690636.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311277.9/ ENSP00000310593.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..647
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.1"
     Protein         1..647
                     /product="microtubule-associated protein 9"
                     /note="aster-associated protein"
                     /calculated_mol_wt=74103
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q49MG5.3)"
     Site            12
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q49MG5.3)"
     Region          127..323
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49MG5.3)"
     Region          <281..621
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          344..421
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49MG5.3)"
     Region          491..514
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49MG5.3)"
     Region          507..>592
                     /region_name="PRK12704"
                     /note="phosphodiesterase; Provisional"
                     /db_xref="CDD:237177"
     Region          530..553
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49MG5.3)"
     Region          580..600
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49MG5.3)"
     Region          613..647
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49MG5.3)"
     CDS             1..647
                     /gene="MAP9"
                     /gene_synonym="ASAP"
                     /coded_by="NM_001039580.2:260..2203"
                     /db_xref="CCDS:CCDS35493.1"
                     /db_xref="GeneID:79884"
                     /db_xref="HGNC:HGNC:26118"
                     /db_xref="MIM:610070"
ORIGIN      
        1 msdevfsttl aytkspkvtk rttfqdelir aitarsarqr sseysddfds deivslgdfs
       61 dtsadensvn kkmndfhisd deeknpskll flktnksngn itkdepvcai kneeemapdg
      121 cedivvksfs esqnkdeefe kdkikmkpkp rilsikstss aennsldtdd hfkpsprprs
      181 mlkkkshmee kdgledketa lseelelhsa psslptpngi qleaekkafs enldpedscl
      241 tslassslkq ilgdsfspgs egnasgkdpn eeitenhnsl ksdenkensf sadhvttave
      301 kskesqvtad dleeekakae limdddrtvd pllsksqsil istsatassk ktiedrnikn
      361 kkstnnrass asarlmtsef lkkssskrrt pstttsshyl gtlkvldqkp sqkqsiepdr
      421 adniraavyq ewlekknvyl hemhrikrie senlriqneq kkaakreeal asfeawkamk
      481 ekeakkiaak krleeknkkk teeenaarkg ealqafekwk ekkmeylkek nrkereyera
      541 kkqkeeetva ekkkdnltav ekwnekkeaf fkqkekekin ekrkeelkra ekkdkdkqai
      601 neyekwlenk ekqerierkq kkrhsflese alppwsppsr tvfakvf
//
LOCUS       NP_001317542             377 aa            linear   PRI 26-DEC-2022
DEFINITION  zinc finger protein 772 isoform 3 [Homo sapiens].
ACCESSION   NP_001317542 XP_005259000
VERSION     NP_001317542.1
DBSOURCE    REFSEQ: accession NM_001330613.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 377)
  AUTHORS   Li M, Li O, Sun J, Zheng X and Ma D.
  TITLE     [Correlation between DNA Methylation of ZNF772 Promoter Region and
            Cervical Cancer]
  JOURNAL   Zhongguo Yi Xue Ke Xue Yuan Xue Bao 42 (2), 164-171 (2020)
   PUBMED   32385021
  REMARK    GeneRIF: [Correlation between DNA Methylation of ZNF772 Promoter
            Region and Cervical Cancer].
REFERENCE   2  (residues 1 to 377)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB450372.2, AK294941.1, AC003005.1, AC004076.1 and BC150292.1.
            On Aug 30, 2016 this sequence version replaced XP_005259000.1.
            
            Transcript Variant: This variant differs in the 5' UTR which
            results in the use of a downstream start codon compared to variant
            1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.36213.1,
                                           SRR1660805.151264.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..377
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     Protein         1..377
                     /product="zinc finger protein 772 isoform 3"
                     /calculated_mol_wt=42910
     Region          34..54
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          46..>352
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          62..82
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          156..176
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(161,163,165,167..168,171..172,175,189,191,195..196,
                     199..200,203,217,219,221,223..224,227..228,231)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          184..204
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          212..232
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          240..260
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          268..288
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          296..316
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(301,303,305,307..308,311..312,315,329,331,335..336,
                     339..340,343,357,359,361,363..364,367..368,371)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          324..344
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          352..372
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..377
                     /gene="ZNF772"
                     /coded_by="NM_001330613.2:344..1477"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS82406.1"
                     /db_xref="GeneID:400720"
                     /db_xref="HGNC:HGNC:33106"
ORIGIN      
        1 medeeipfeq sfsigmsqir ipkggpstqk aypcgtcglv lkdilhlaeh qethpgqkpy
       61 mcvlcgkqfc fsanlhqhqk qhsgekpfrs dksrpfllnn cavqsmemsf vtgeackdfl
      121 asssifehha phnewkphsn tkceeashcg krhykcsecg ktfsrkdslv qhqrvhtger
      181 pyecgecgkt fsrkpilaqh qrihtgempy ecgicgkvfn hssnlivhqr vhtgarpykc
      241 secgkayshk stlvqhesih tgerpyecse cgkyfghkyr likhwsvhtg arpyeciacg
      301 kffsqssdli ahqrvhngek pyvcsecgka fshkhvlvqh hrihtgerpy kcsecgkafr
      361 qraslirhwk ihtgerp
//
LOCUS       NP_001129688             253 aa            linear   PRI 26-DEC-2022
DEFINITION  transmembrane protein 51 isoform 1 [Homo sapiens].
ACCESSION   NP_001129688
VERSION     NP_001129688.1
DBSOURCE    REFSEQ: accession NM_001136216.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 253)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 253)
  AUTHORS   Christians A, Poisel E, Hartmann C, von Deimling A and Pusch S.
  TITLE     Characterization of the epithelial membrane protein 3 interaction
            network reveals a potential functional link to mitogenic signal
            transduction regulation
  JOURNAL   Int J Cancer 145 (2), 461-473 (2019)
   PUBMED   30614533
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL035405.13 and AL391094.12.
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 through 4 encode the same isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.481948.1,
                                           SRR1803613.22793.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..253
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     Protein         1..253
                     /product="transmembrane protein 51 isoform 1"
                     /calculated_mol_wt=27628
     Region          7..240
                     /region_name="TMEM51"
                     /note="Transmembrane protein 51; pfam15345"
                     /db_xref="CDD:434653"
     Site            17..37
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NW97.1)"
     Site            65..85
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NW97.1)"
     Region          93..133
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NW97.1)"
     Site            115
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NW97.1)"
     Region          164..253
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NW97.1)"
     Site            182
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NW97.1)"
     Site            192
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NW97.1)"
     CDS             1..253
                     /gene="TMEM51"
                     /gene_synonym="C1orf72"
                     /coded_by="NM_001136216.2:486..1247"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS154.1"
                     /db_xref="GeneID:55092"
                     /db_xref="HGNC:HGNC:25488"
ORIGIN      
        1 mmaqskangs hyaltaiglg mlvlgvimam wnlvpgfsaa ekptaqgsnk tevgggilks
       61 ktfsvayvlv gagvmlllls iclsirdkrk qrqgedlahv qhptgagpha qeedsqeeee
      121 edeeaasryy vpsyeevmnt nyseargeeq nprlsislps yesltgldet tptstradve
      181 aspgnppdrq nsklakrlkp lkvrriksek lhlkdfrinl pdknvpppsi epltpppqyd
      241 evqekapdtr ppd
//
LOCUS       NP_620709                424 aa            linear   PRI 26-DEC-2022
DEFINITION  mitogen-activated protein kinase 9 isoform beta2 [Homo sapiens].
ACCESSION   NP_620709
VERSION     NP_620709.1
DBSOURCE    REFSEQ: accession NM_139070.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 424)
  AUTHORS   Tian X, Traub B, Shi J, Huber N, Schreiner S, Chen G, Zhou S,
            Henne-Bruns D, Knippschild U and Kornmann M.
  TITLE     c-Jun N-terminal kinase 2 suppresses pancreatic cancer growth and
            invasion and is opposed by c-Jun N-terminal kinase 1
  JOURNAL   Cancer Gene Ther 29 (1), 73-86 (2022)
   PUBMED   33526844
  REMARK    GeneRIF: c-Jun N-terminal kinase 2 suppresses pancreatic cancer
            growth and invasion and is opposed by c-Jun N-terminal kinase 1.
REFERENCE   2  (residues 1 to 424)
  AUTHORS   Smith AO, Jonassen JA, Preval KM, Davis RJ and Pazour GJ.
  TITLE     c-Jun N-terminal kinase (JNK) signaling contributes to cystic
            burden in polycystic kidney disease
  JOURNAL   PLoS Genet 17 (12), e1009711 (2021)
   PUBMED   34962918
  REMARK    GeneRIF: c-Jun N-terminal kinase (JNK) signaling contributes to
            cystic burden in polycystic kidney disease.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 424)
  AUTHORS   Yang J, Do-Umehara HC, Zhang Q, Wang H, Hou C, Dong H, Perez EA,
            Sala MA, Anekalla KR, Walter JM, Liu S, Wunderink RG, Budinger GRS
            and Liu J.
  TITLE     miR-221-5p-Mediated Downregulation of JNK2 Aggravates Acute Lung
            Injury
  JOURNAL   Front Immunol 12, 700933 (2021)
   PUBMED   34899681
  REMARK    GeneRIF: miR-221-5p-Mediated Downregulation of JNK2 Aggravates
            Acute Lung Injury.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 424)
  AUTHORS   Chen J, Ye C, Wan C, Li G, Peng L, Peng Y and Fang R.
  TITLE     The Roles of c-Jun N-Terminal Kinase (JNK) in Infectious Diseases
  JOURNAL   Int J Mol Sci 22 (17), 9640 (2021)
   PUBMED   34502556
  REMARK    GeneRIF: The Roles of c-Jun N-Terminal Kinase (JNK) in Infectious
            Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 424)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   6  (residues 1 to 424)
  AUTHORS   Livingstone C, Patel G and Jones N.
  TITLE     ATF-2 contains a phosphorylation-dependent transcriptional
            activation domain
  JOURNAL   EMBO J 14 (8), 1785-1797 (1995)
   PUBMED   7737129
REFERENCE   7  (residues 1 to 424)
  AUTHORS   Kallunki T, Su B, Tsigelny I, Sluss HK, Derijard B, Moore G, Davis
            R and Karin M.
  TITLE     JNK2 contains a specificity-determining region responsible for
            efficient c-Jun binding and phosphorylation
  JOURNAL   Genes Dev 8 (24), 2996-3007 (1994)
   PUBMED   8001819
REFERENCE   8  (residues 1 to 424)
  AUTHORS   Sluss HK, Barrett T, Derijard B and Davis RJ.
  TITLE     Signal transduction by tumor necrosis factor mediated by JNK
            protein kinases
  JOURNAL   Mol Cell Biol 14 (12), 8376-8384 (1994)
   PUBMED   7969172
REFERENCE   9  (residues 1 to 424)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   10 (residues 1 to 424)
  AUTHORS   Denys,H., Desmet,R., Stragier,M., Vergison,R. and Lemahieu,S.F.
  TITLE     Cystitis emphysematosa
  JOURNAL   Acta Urol Belg 45 (4), 327-331 (1977)
   PUBMED   602896
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008610.7, DB451562.1,
            AK289638.1 and AC104115.3.
            
            Summary: The protein encoded by this gene is a member of the MAP
            kinase family. MAP kinases act as an integration point for multiple
            biochemical signals, and are involved in a wide variety of cellular
            processes such as proliferation, differentiation, transcription
            regulation and development. This kinase targets specific
            transcription factors, and thus mediates immediate-early gene
            expression in response to various cell stimuli. It is most closely
            related to MAPK8, both of which are involved in UV radiation
            induced apoptosis, thought to be related to the cytochrome
            c-mediated cell death pathway. This gene and MAPK8 are also known
            as c-Jun N-terminal kinases. This kinase blocks the ubiquitination
            of tumor suppressor p53, and thus it increases the stability of p53
            in nonstressed cells. Studies of this gene's mouse counterpart
            suggest a key role in T-cell differentiation. Several alternatively
            spliced transcript variants encoding distinct isoforms have been
            reported. [provided by RefSeq, Sep 2008].
            
            Transcript Variant: This variant (JNK2-b2) encodes the longer of
            the two JNK2 beta isoforms (JNK2 beta2). The JNK2-b2 variant
            differs from the JNK2-a2 variant in the use of an alternate
            internal coding exon of the same length. Thus, JNK2 beta2 isoform
            is the same length as JNK2 alpha2 isoform, with a few aa
            differences in an internal protein segment. Variants JNK-b2 and 9
            both encode the same isoform (beta2).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK289638.1, SRR1803614.84257.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..424
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     Protein         1..424
                     /product="mitogen-activated protein kinase 9 isoform
                     beta2"
                     /EC_number="2.7.11.24"
                     /note="c-Jun N-terminal kinase 2; stress-activated protein
                     kinase JNK2; MAP kinase 9; c-Jun kinase 2; MAPK 9;
                     stress-activated protein kinase 1a"
                     /calculated_mol_wt=48180
     Region          25..360
                     /region_name="STKc_JNK"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     c-Jun N-terminal Kinase; cd07850"
                     /db_xref="CDD:270840"
     Site            order(32..38,40,53,55,72,86,108..114,116..117,151,153,
                     155..156,158,168..169,172,183,185..188,190,227)
                     /site_type="active"
                     /db_xref="CDD:270840"
     Site            order(32..38,40,53,55,86,108..114,158,168)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270840"
     Site            order(72,116,151,153,172,183,185..188,190,227)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270840"
     Site            order(112,118,127,130,159..163,323..324,326,329)
                     /site_type="other"
                     /note="KIM docking site [polypeptide binding]"
                     /db_xref="CDD:270840"
     Site            order(168..178,182..190)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270840"
     CDS             1..424
                     /gene="MAPK9"
                     /gene_synonym="JNK-55; JNK2; JNK2A; JNK2ALPHA; JNK2B;
                     JNK2BETA; p54a; p54aSAPK; PRKM9; SAPK; SAPK1a"
                     /coded_by="NM_139070.3:284..1558"
                     /note="isoform beta2 is encoded by transcript variant
                     JNK2-b2"
                     /db_xref="CCDS:CCDS4454.1"
                     /db_xref="GeneID:5601"
                     /db_xref="HGNC:HGNC:6886"
                     /db_xref="MIM:602896"
ORIGIN      
        1 msdskcdsqf ysvqvadstf tvlkryqqlk pigsgaqgiv caafdtvlgi nvavkklsrp
       61 fqnqthakra yrelvllkcv nhkniislln vftpqktlee fqdvylvmel mdanlcqvih
      121 meldhermsy llyqmlcgik hlhsagiihr dlkpsnivvk sdctlkildf glartactnf
      181 mmtpyvvtry yrapevilgm gykenvdiws vgcimaemvl hkvlfpgrdy idqwnkvieq
      241 lgtpsaefmk klqptvrnyv enrpkypgik feelfpdwif pseserdkik tsqardllsk
      301 mlvidpdkri svdealrhpy itvwydpaea eapppqiyda qleerehaie ewkeliykev
      361 mdweerskng vvkdqpsdaa vssnatpsqs ssindissms teqtlasdtd ssldastgpl
      421 egcr
//
LOCUS       NP_001317405             387 aa            linear   PRI 26-DEC-2022
DEFINITION  zinc transporter 6 isoform 5 [Homo sapiens].
ACCESSION   NP_001317405 XP_011531263
VERSION     NP_001317405.1
DBSOURCE    REFSEQ: accession NM_001330476.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 387)
  AUTHORS   Zhu B, Huo R, Zhi Q, Zhan M, Chen X and Hua ZC.
  TITLE     Increased expression of zinc transporter ZIP4, ZIP11, ZnT1, and
            ZnT6 predicts poor prognosis in pancreatic cancer
  JOURNAL   J Trace Elem Med Biol 65, 126734 (2021)
   PUBMED   33631610
  REMARK    GeneRIF: Increased expression of zinc transporter ZIP4, ZIP11,
            ZnT1, and ZnT6 predicts poor prognosis in pancreatic cancer.
REFERENCE   2  (residues 1 to 387)
  AUTHORS   Adelino JE, Addobbati C, Pontillo A, Fragoso TS, Duarte A, Crovella
            S, De Azevedo Silva J and Sandrin-Garcia P.
  TITLE     A genetic variant within SLC30A6 has a protective role in the
            severity of rheumatoid arthritis
  JOURNAL   Scand J Rheumatol 46 (4), 326-327 (2017)
   PUBMED   27758124
  REMARK    GeneRIF: A genetic variant within SLC30A6 has a protective role in
            the severity of Rheumatoid Arthritis.
REFERENCE   3  (residues 1 to 387)
  AUTHORS   Rafalo-Ulinska A, Piotrowska J, Kryczyk A, Opoka W, Sowa-Kucma M,
            Misztak P, Rajkowska G, Stockmeier CA, Datka W, Nowak G and
            Szewczyk B.
  TITLE     Zinc transporters protein level in postmortem brain of depressed
            subjects and suicide victims
  JOURNAL   J Psychiatr Res 83, 220-229 (2016)
   PUBMED   27661418
  REMARK    GeneRIF: There was a significant increase in protein levels of ZnT6
            in the prefrontal cortex in Major depression disorder, relative to
            control subjects.
REFERENCE   4  (residues 1 to 387)
  AUTHORS   Kaneko M, Noguchi T, Ikegami S, Sakurai T, Kakita A, Toyoshima Y,
            Kambe T, Yamada M, Inden M, Hara H, Oyanagi K, Inuzuka T, Takahashi
            H and Hozumi I.
  TITLE     Zinc transporters ZnT3 and ZnT6 are downregulated in the spinal
            cords of patients with sporadic amyotrophic lateral sclerosis
  JOURNAL   J Neurosci Res 93 (2), 370-379 (2015)
   PUBMED   25284286
  REMARK    GeneRIF: results of this study suggested that ZnT6 protein levels
            are decreased in the spinal cords of sporadic ALS patients.
REFERENCE   5  (residues 1 to 387)
  AUTHORS   Beyer N, Coulson DT, Heggarty S, Ravid R, Hellemans J, Irvine GB
            and Johnston JA.
  TITLE     Zinc transporter mRNA levels in Alzheimer's disease postmortem
            brain
  JOURNAL   J Alzheimers Dis 29 (4), 863-873 (2012)
   PUBMED   22349685
  REMARK    GeneRIF: The results of this study showed that signi fi cant
            positive correlations between ZIP1,ZnT1, and ZnT6 in most brain in
            patient with Alzheimer's disease.
REFERENCE   6  (residues 1 to 387)
  AUTHORS   Falcon-Perez JM and Dell'Angelica EC.
  TITLE     Zinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect
            of adaptor protein 3-depleted fibroblasts by promoting zinc
            accumulation in lysosomes
  JOURNAL   Exp Cell Res 313 (7), 1473-1483 (2007)
   PUBMED   17349999
REFERENCE   7  (residues 1 to 387)
  AUTHORS   Smith JL, Xiong S, Markesbery WR and Lovell MA.
  TITLE     Altered expression of zinc transporters-4 and -6 in mild cognitive
            impairment, early and late Alzheimer's disease brain
  JOURNAL   Neuroscience 140 (3), 879-888 (2006)
   PUBMED   16580781
  REMARK    GeneRIF: Our results show that Zn transporter-4 and Zn
            transporter-6 are significantly (P<0.05) increased in
            hippocampus/parahippocampal gyrus of early Alzheimer's disease and
            Alzheimer's disease subjects.
REFERENCE   8  (residues 1 to 387)
  AUTHORS   Suzuki T, Ishihara K, Migaki H, Ishihara K, Nagao M, Yamaguchi-Iwai
            Y and Kambe T.
  TITLE     Two different zinc transport complexes of cation diffusion
            facilitator proteins localized in the secretory pathway operate to
            activate alkaline phosphatases in vertebrate cells
  JOURNAL   J Biol Chem 280 (35), 30956-30962 (2005)
   PUBMED   15994300
REFERENCE   9  (residues 1 to 387)
  AUTHORS   Seve M, Chimienti F, Devergnas S and Favier A.
  TITLE     In silico identification and expression of SLC30 family genes: an
            expressed sequence tag data mining strategy for the
            characterization of zinc transporters' tissue expression
  JOURNAL   BMC Genomics 5 (1), 32 (2004)
   PUBMED   15154973
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 387)
  AUTHORS   Huang L, Kirschke CP and Gitschier J.
  TITLE     Functional characterization of a novel mammalian zinc transporter,
            ZnT6
  JOURNAL   J Biol Chem 277 (29), 26389-26395 (2002)
   PUBMED   11997387
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB469378.1, AL832755.1,
            AL121653.2 and AA594503.1.
            On Aug 29, 2016 this sequence version replaced XP_011531263.1.
            
            Summary: This gene encodes a member of a family of proteins that
            function as zinc transporters. This protein can regulate
            subcellular levels of zinc in the Golgi and vesicles. Expression of
            this gene is altered in the Alzheimer's disease brain plaques.
            [provided by RefSeq, Aug 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL832755.1, SRR1660805.3798.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2163459
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..387
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.3"
     Protein         1..387
                     /product="zinc transporter 6 isoform 5"
                     /note="zinc transporter 6; solute carrier family 30 (zinc
                     transporter), member 6"
                     /calculated_mol_wt=42378
     Region          <4..257
                     /region_name="CzcD"
                     /note="Co/Zn/Cd efflux system component [Inorganic ion
                     transport and metabolism]; COG1230"
                     /db_xref="CDD:224151"
     CDS             1..387
                     /gene="SLC30A6"
                     /gene_synonym="MST103; MSTP103; ZNT6"
                     /coded_by="NM_001330476.2:45..1208"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS82434.1"
                     /db_xref="GeneID:55676"
                     /db_xref="HGNC:HGNC:19305"
                     /db_xref="MIM:611148"
ORIGIN      
        1 mtclisywvt lrkpspvysf gferlevlav fastvlaqlg alfilkesae rfleqpeiht
       61 grllvgtfva lcfnlftmls irnkpfayvs eaastswlqe hvadlsrslc giipglssif
      121 lprmnpfvli dlagafalci tymlieinny favdtasaia ialmtfgtmy pmsvysgkvl
      181 lqttpphvig qldklirevs tldgvlevrn ehfwtlgfgs lagsvhvrir rdaneqmvla
      241 hvtnrlytlv stltvqifkd dwirpallsg pvaanvlnfs dhhvipmpll kgtddlnpvt
      301 stpakpsspp pefsfntpgk nvnpvillnt qtrpygfgln hghtpyssml nqglgvpgig
      361 atqglrtgft nipsrygtnn rigqprp
//
LOCUS       NP_001363366             483 aa            linear   PRI 27-DEC-2022
DEFINITION  CUGBP Elav-like family member 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001363366
VERSION     NP_001363366.1
DBSOURCE    REFSEQ: accession NM_001376437.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 483)
  AUTHORS   David G, Reboutier D, Deschamps S, Mereau A, Taylor W,
            Padilla-Parra S, Tramier M, Audic Y and Paillard L.
  TITLE     The RNA-binding proteins CELF1 and ELAVL1 cooperatively control the
            alternative splicing of CD44
  JOURNAL   Biochem Biophys Res Commun 626, 79-84 (2022)
   PUBMED   35973378
  REMARK    GeneRIF: The RNA-binding proteins CELF1 and ELAVL1 cooperatively
            control the alternative splicing of CD44.
REFERENCE   2  (residues 1 to 483)
  AUTHORS   Zhao X, Wang J, Zhu R, Zhang J and Zhang Y.
  TITLE     DLX6-AS1 activated by H3K4me1 enhanced secondary cisplatin
            resistance of lung squamous cell carcinoma through modulating
            miR-181a-5p/miR-382-5p/CELF1 axis
  JOURNAL   Sci Rep 11 (1), 21014 (2021)
   PUBMED   34697393
  REMARK    GeneRIF: DLX6-AS1 activated by H3K4me1 enhanced secondary cisplatin
            resistance of lung squamous cell carcinoma through modulating
            miR-181a-5p/miR-382-5p/CELF1 axis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 483)
  AUTHORS   Liu C, Wang H, Tang L, Huang H, Xu M, Lin Y, Zhou L, Ho L, Lu J and
            Ai X.
  TITLE     LncRNA BACE1-AS enhances the invasive and metastatic capacity of
            hepatocellular carcinoma cells through mediating miR-377-3p/CELF1
            axis
  JOURNAL   Life Sci 275, 119288 (2021)
   PUBMED   33667514
  REMARK    GeneRIF: LncRNA BACE1-AS enhances the invasive and metastatic
            capacity of hepatocellular carcinoma cells through mediating
            miR-377-3p/CELF1 axis.
REFERENCE   4  (residues 1 to 483)
  AUTHORS   Jin H, Liang G, Yang L, Liu L, Wang B and Yan F.
  TITLE     SP1-induced AFAP1-AS1 contributes to proliferation and invasion by
            regulating miR-497-5p/CELF1 pathway in nasopharyngeal carcinoma
  JOURNAL   Hum Cell 34 (2), 491-501 (2021)
   PUBMED   33400247
  REMARK    GeneRIF: SP1-induced AFAP1-AS1 contributes to proliferation and
            invasion by regulating miR-497-5p/CELF1 pathway in nasopharyngeal
            carcinoma.
REFERENCE   5  (residues 1 to 483)
  AUTHORS   Wang H, Huang R, Guo W, Qin X, Yang Z, Yuan Z, Wei Y, Mo C, Zeng Z,
            Luo J, Cai J and Wang H.
  TITLE     RNA-binding protein CELF1 enhances cell migration, invasion, and
            chemoresistance by targeting ETS2 in colorectal cancer
  JOURNAL   Clin Sci (Lond) 134 (14), 1973-1990 (2020)
   PUBMED   32677671
  REMARK    GeneRIF: RNA-binding protein CELF1 enhances cell migration,
            invasion, and chemoresistance by targeting ETS2 in colorectal
            cancer.
REFERENCE   6  (residues 1 to 483)
  AUTHORS   Michalowski S, Miller JW, Urbinati CR, Paliouras M, Swanson MS and
            Griffith J.
  TITLE     Visualization of double-stranded RNAs from the myotonic dystrophy
            protein kinase gene and interactions with CUG-binding protein
  JOURNAL   Nucleic Acids Res 27 (17), 3534-3542 (1999)
   PUBMED   10446244
REFERENCE   7  (residues 1 to 483)
  AUTHORS   Roberts R, Timchenko NA, Miller JW, Reddy S, Caskey CT, Swanson MS
            and Timchenko LT.
  TITLE     Altered phosphorylation and intracellular distribution of a (CUG)n
            triplet repeat RNA-binding protein in patients with myotonic
            dystrophy and in myotonin protein kinase knockout mice
  JOURNAL   Proc Natl Acad Sci U S A 94 (24), 13221-13226 (1997)
   PUBMED   9371827
REFERENCE   8  (residues 1 to 483)
  AUTHORS   Timchenko LT, Miller JW, Timchenko NA, DeVore DR, Datar KV, Lin L,
            Roberts R, Caskey CT and Swanson MS.
  TITLE     Identification of a (CUG)n triplet repeat RNA-binding protein and
            its expression in myotonic dystrophy
  JOURNAL   Nucleic Acids Res 24 (22), 4407-4414 (1996)
   PUBMED   8948631
REFERENCE   9  (residues 1 to 483)
  AUTHORS   Bhagavati S, Ghatpande A and Leung B.
  TITLE     Identification of two nuclear proteins which bind to RNA CUG
            repeats: significance for myotonic dystrophy
  JOURNAL   Biochem Biophys Res Commun 228 (1), 55-62 (1996)
   PUBMED   8912635
  REMARK    Erratum:[Biochem Biophys Res Commun. 2008 Jun;370(3):530. Bhagwati,
            S [corrected to Bhagavati, S]]
REFERENCE   10 (residues 1 to 483)
  AUTHORS   Timchenko LT, Timchenko NA, Caskey CT and Roberts R.
  TITLE     Novel proteins with binding specificity for DNA CTG repeats and RNA
            CUG repeats: implications for myotonic dystrophy
  JOURNAL   Hum Mol Genet 5 (1), 115-121 (1996)
   PUBMED   8789448
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090559.7.
            
            Summary: Members of the CELF/BRUNOL protein family contain two
            N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM
            domain, and a divergent segment of 160-230 aa between the second
            and third RRM domains. Members of this protein family regulate
            pre-mRNA alternative splicing and may also be involved in mRNA
            editing, and translation. This gene may play a role in myotonic
            dystrophy type 1 (DM1) via interactions with the dystrophia
            myotonica-protein kinase (DMPK) gene. Alternative splicing results
            in multiple transcript variants encoding different isoforms.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2767380.1,
                                           SRR11853567.5318.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..483
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..483
                     /product="CUGBP Elav-like family member 1 isoform 2"
                     /note="CUG RNA-binding protein; embryo deadenylation
                     element binding protein; nuclear polyadenylated
                     RNA-binding protein, 50-kD; bruno-like 2; CUG-BP- and
                     ETR-3-like factor 1; EDEN-BP homolog; bruno-like protein
                     2; deadenylation factor CUG-BP; RNA-binding protein
                     BRUNOL-2; CUG triplet repeat RNA-binding protein 1; 50 kDa
                     nuclear polyadenylated RNA-binding protein; embryo
                     deadenylation element-binding protein homolog"
                     /calculated_mol_wt=51486
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q92879.2)"
     Site            4
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92879.2)"
     Region          15..98
                     /region_name="RRM1_CELF1_2_Bruno"
                     /note="RNA recognition motif 1 (RRM1) found in CUGBP
                     Elav-like family member CELF-1, CELF-2, Drosophila
                     melanogaster Bruno protein and similar proteins; cd12631"
                     /db_xref="CDD:410040"
     Site            order(19,21..22,25,46..49,51..52,59..61,63,93,95,97..98)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410040"
     Region          107..187
                     /region_name="RRM2_CELF1_2"
                     /note="RNA recognition motif 2 (RRM2) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12634"
                     /db_xref="CDD:410042"
     Site            order(109,111,113..114,117,136,138,140,148..150,152,
                     178..179,182,184,186..187)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410042"
     Site            179
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92879.2)"
     Site            299
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P28659; propagated from
                     UniProtKB/Swiss-Prot (Q92879.2)"
     Region          391..482
                     /region_name="RRM3_CELF1_2"
                     /note="RNA recognition motif 3 (RRM3) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12638"
                     /db_xref="CDD:241082"
     CDS             1..483
                     /gene="CELF1"
                     /gene_synonym="BRUNOL2; CUG-BP; CUGBP; CUGBP1; EDEN-BP;
                     hNab50; NAB50; NAPOR"
                     /coded_by="NM_001376437.1:152..1603"
                     /note="isoform 2 is encoded by transcript variant 65"
                     /db_xref="CCDS:CCDS7939.1"
                     /db_xref="GeneID:10658"
                     /db_xref="HGNC:HGNC:2549"
                     /db_xref="MIM:601074"
ORIGIN      
        1 mngtldhpdq pdldaikmfv gqvprtwsek dlrelfeqyg avyeinvlrd rsqnppqskg
       61 ccfvtfytrk aaleaqnalh nmkvlpgmhh piqmkpadse knnavedrkl figmiskkct
      121 endirvmfss fgqieecril rgpdglsrgc afvtfttram aqtaikamhq aqtmegcssp
      181 mvvkfadtqk dkeqkrmaqq lqqqmqqisa asvwgnlagl ntlgpqylal lqqtassgnl
      241 ntlsslhpmg glnamqlqnl aalaaaasaa qntpsgtnal ttsssplsvl tssagsspss
      301 sssnsvnpia slgalqtlag ataglnvgsl agmaalnggl gssglsngtg stmealtqay
      361 sgiqqyaaaa lptlynqnll tqqsigaags qkegpeganl fiyhlpqefg dqdllqmfmp
      421 fgnvvsakvf idkqtnlskc fgfvsydnpv saqaaiqsmn gfqigmkrlk vqlkrsknds
      481 kpy
//
LOCUS       NP_001338161             753 aa            linear   PRI 28-DEC-2022
DEFINITION  RIMS-binding protein 2 isoform f [Homo sapiens].
ACCESSION   NP_001338161 XP_016874601
VERSION     NP_001338161.1
DBSOURCE    REFSEQ: accession NM_001351232.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 753)
  AUTHORS   Hollingworth P, Sweet R, Sims R, Harold D, Russo G, Abraham R,
            Stretton A, Jones N, Gerrish A, Chapman J, Ivanov D, Moskvina V,
            Lovestone S, Priotsi P, Lupton M, Brayne C, Gill M, Lawlor B, Lynch
            A, Craig D, McGuinness B, Johnston J, Holmes C, Livingston G, Bass
            NJ, Gurling H, McQuillin A, Holmans P, Jones L, Devlin B, Klei L,
            Barmada MM, Demirci FY, DeKosky ST, Lopez OL, Passmore P, Owen MJ,
            O'Donovan MC, Mayeux R, Kamboh MI and Williams J.
  CONSRTM   GERAD Consortium; National Institute on Aging Late-Onset
            Alzheimer's Disease Family Study Group
  TITLE     Genome-wide association study of Alzheimer's disease with psychotic
            symptoms
  JOURNAL   Mol Psychiatry 17 (12), 1316-1327 (2012)
   PUBMED   22005930
REFERENCE   2  (residues 1 to 753)
  AUTHORS   Hendrickx A, Beullens M, Ceulemans H, Den Abt T, Van Eynde A,
            Nicolaescu E, Lesage B and Bollen M.
  TITLE     Docking motif-guided mapping of the interactome of protein
            phosphatase-1
  JOURNAL   Chem Biol 16 (4), 365-371 (2009)
   PUBMED   19389623
REFERENCE   3  (residues 1 to 753)
  AUTHORS   Mittelstaedt T and Schoch S.
  TITLE     Structure and evolution of RIM-BP genes: identification of a novel
            family member
  JOURNAL   Gene 403 (1-2), 70-79 (2007)
   PUBMED   17855024
  REMARK    GeneRIF: RIMBP2 is identified in humans
REFERENCE   4  (residues 1 to 753)
  AUTHORS   Guinn BA, Bland EA, Lodi U, Liggins AP, Tobal K, Petters S, Wells
            JW, Banham AH and Mufti GJ.
  TITLE     Humoral detection of leukaemia-associated antigens in presentation
            acute myeloid leukaemia
  JOURNAL   Biochem Biophys Res Commun 335 (4), 1293-1304 (2005)
   PUBMED   16112646
REFERENCE   5  (residues 1 to 753)
  AUTHORS   Wang Y, Sugita S and Sudhof TC.
  TITLE     The RIM/NIM family of neuronal C2 domain proteins. Interactions
            with Rab3 and a new class of Src homology 3 domain proteins
  JOURNAL   J Biol Chem 275 (26), 20033-20044 (2000)
   PUBMED   10748113
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC095350.8 and AC063926.36.
            On May 4, 2017 this sequence version replaced XP_016874601.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.164557.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..753
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     Protein         1..753
                     /product="RIMS-binding protein 2 isoform f"
                     /note="RIM binding protein 2; protein phosphatase 1,
                     regulatory subunit 133"
                     /calculated_mol_wt=82188
     Region          24..>85
                     /region_name="DUF4200"
                     /note="Domain of unknown function (DUF4200); pfam13863"
                     /db_xref="CDD:433535"
     Region          188..248
                     /region_name="SH3_RIM-BP_1"
                     /note="First Src homology 3 domain of Rab3-interacting
                     molecules (RIMs) binding proteins; cd12014"
                     /db_xref="CDD:212947"
     Site            order(193,195,198,208,227..228,242,244..245)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212947"
     Region          317..394
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Site            order(393..394,396..397)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          410..473
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          504..590
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(504,573,588)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     CDS             1..753
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /coded_by="NM_001351232.2:468..2729"
                     /note="isoform f is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS91777.1"
                     /db_xref="GeneID:23504"
                     /db_xref="HGNC:HGNC:30339"
                     /db_xref="MIM:611602"
ORIGIN      
        1 mreaaerrqq lqlehdqala vlsakqqeid llqkaqveak kehegavrll eskvreleek
       61 crtqseqfnl lsrdlekfrq hagkidllgg savapldist apskpfpqfm nglatslgkg
      121 qesaiggssa igeyirplpq pgdrpeplsa kptflsrsgs arcrsesdme nernsntskq
      181 rysgkvhlcv arysynpfdg pnenpeaelp ltagkylyvy gdmdedgfye gelldgqrgl
      241 vpsnfvdfvq dnesrlastl gneqdqnfin hsgiglegeh ildlhspthi dagitdnsag
      301 tldvniddig edivpyprki tlikqlaksv ivgweppavp pgwgtvssyn vlvdketrmn
      361 ltlgsrtkal ieklnmaact yrisvqcvts rgssdelqct llvgkdvvva pshlrvdnit
      421 qisaqlswlp tnsnyshvif lneeefdivk aarykyqffn lrpnmaykvk vlakphqmpw
      481 qlpleqrekk eafvefstlp agppappqdv tvqagvtpat irvswrppvl tptglsngan
      541 vtgygvyakg qrvaevifpt adstavelvr lrsleakgvt vrtlsaqges vdsavaavpp
      601 ellvpptphp rpapqskpla ssgvpetkde hlgpharmde aweqsrapgp vhghmleppv
      661 gpgrrspsps rilpqpqgtp vsttvakama reaaqrvaes srlekrsvfl erssagqyaa
      721 sdeedaydsp dfkrrgasvd dflkgselgk qgn
//
LOCUS       NP_003444               1377 aa            linear   PRI 29-DEC-2022
DEFINITION  zinc finger MYM-type protein 2 isoform 1 [Homo sapiens].
ACCESSION   NP_003444
VERSION     NP_003444.1
DBSOURCE    REFSEQ: accession NM_003453.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1377)
  AUTHORS   Zeng X, Zheng W, Sheng Y and Ma H.
  TITLE     UBE2B promotes ovarian cancer growth via promoting RAD18 mediated
            ZMYM2 monoubiquitination and stabilization
  JOURNAL   Bioengineered 13 (4), 8000-8012 (2022)
   PUBMED   35313791
  REMARK    GeneRIF: UBE2B promotes ovarian cancer growth via promoting RAD18
            mediated ZMYM2 monoubiquitination and stabilization.
REFERENCE   2  (residues 1 to 1377)
  AUTHORS   Ludtke TH, Kleppa MJ, Rivera-Reyes R, Qasrawi F, Connaughton DM,
            Shril S, Hildebrandt F and Kispert A.
  TITLE     Proteomic analysis identifies ZMYM2 as endogenous binding partner
            of TBX18 protein in 293 and A549 cells
  JOURNAL   Biochem J 479 (1), 91-109 (2022)
   PUBMED   34935912
  REMARK    GeneRIF: Proteomic analysis identifies ZMYM2 as endogenous binding
            partner of TBX18 protein in 293 and A549 cells.
REFERENCE   3  (residues 1 to 1377)
  AUTHORS   Lezmi E, Weissbein U, Golan-Lev T, Nissim-Rafinia M, Meshorer E and
            Benvenisty N.
  TITLE     The Chromatin Regulator ZMYM2 Restricts Human Pluripotent Stem Cell
            Growth and Is Essential for Teratoma Formation
  JOURNAL   Stem Cell Reports 15 (6), 1275-1286 (2020)
   PUBMED   32559458
  REMARK    GeneRIF: The Chromatin Regulator ZMYM2 Restricts Human Pluripotent
            Stem Cell Growth and Is Essential for Teratoma Formation.
REFERENCE   4  (residues 1 to 1377)
  AUTHORS   Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin
            AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino
            A, Klambt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I,
            Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford
            AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao
            J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl
            S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum
            MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM,
            Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick
            PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM,
            Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV,
            Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers
            MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA,
            van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF,
            Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM,
            Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B,
            Fisher SE, Bouchard M, Khokha MK, Shril S and Hildebrandt F.
  TITLE     Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic
            Urinary Tract Malformations
  JOURNAL   Am J Hum Genet 107 (4), 727-742 (2020)
   PUBMED   32891193
  REMARK    GeneRIF: Mutations of the Transcriptional Corepressor ZMYM2 Cause
            Syndromic Urinary Tract Malformations.
REFERENCE   5  (residues 1 to 1377)
  AUTHORS   Cibis H, Biyanee A, Dorner W, Mootz HD and Klempnauer KH.
  TITLE     Characterization of the zinc finger proteins ZMYM2 and ZMYM4 as
            novel B-MYB binding proteins
  JOURNAL   Sci Rep 10 (1), 8390 (2020)
   PUBMED   32439918
  REMARK    GeneRIF: Characterization of the zinc finger proteins ZMYM2 and
            ZMYM4 as novel B-MYB binding proteins.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1377)
  AUTHORS   Reiter A, Sohal J, Kulkarni S, Chase A, Macdonald DH, Aguiar RC,
            Goncalves C, Hernandez JM, Jennings BA, Goldman JM and Cross NC.
  TITLE     Consistent fusion of ZNF198 to the fibroblast growth factor
            receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome
  JOURNAL   Blood 92 (5), 1735-1742 (1998)
   PUBMED   9716603
REFERENCE   7  (residues 1 to 1377)
  AUTHORS   Still,I.H. and Cowell,J.K.
  TITLE     The t(8;13) atypical myeloproliferative disorder: further analysis
            of the ZNF198 gene and lack of evidence for multiple genes
            disrupted on chromosome 13
  JOURNAL   Blood 92 (4), 1456-1458 (1998)
   PUBMED   9694738
REFERENCE   8  (residues 1 to 1377)
  AUTHORS   Popovici C, Adelaide J, Ollendorff V, Chaffanet M, Guasch G, Jacrot
            M, Leroux D, Birnbaum D and Pebusque MJ.
  TITLE     Fibroblast growth factor receptor 1 is fused to FIM in stem-cell
            myeloproliferative disorder with t(8;13)
  JOURNAL   Proc Natl Acad Sci U S A 95 (10), 5712-5717 (1998)
   PUBMED   9576949
REFERENCE   9  (residues 1 to 1377)
  AUTHORS   Smedley D, Hamoudi R, Clark J, Warren W, Abdul-Rauf M, Somers G,
            Venter D, Fagan K, Cooper C and Shipley J.
  TITLE     The t(8;13)(p11;q11-12) rearrangement associated with an atypical
            myeloproliferative disorder fuses the fibroblast growth factor
            receptor 1 gene to a novel gene RAMP
  JOURNAL   Hum Mol Genet 7 (4), 637-642 (1998)
   PUBMED   9499416
REFERENCE   10 (residues 1 to 1377)
  AUTHORS   Xiao S, Nalabolu SR, Aster JC, Ma J, Abruzzo L, Jaffe ES, Stone R,
            Weissman SM, Hudson TJ and Fletcher JA.
  TITLE     FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the
            t(8;13) leukaemia/lymphoma syndrome
  JOURNAL   Nat Genet 18 (1), 84-87 (1998)
   PUBMED   9425908
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL137119.26 and AL138688.27.
            
            Summary: The protein encoded by this gene is a zinc finger protein
            that may act as a transcription factor. The encoded protein may be
            part of a BHC histone deacetylase complex. Translocation of this
            gene with the fibroblast growth factor receptor-1 gene (FGFR1)
            results in a fusion gene, which may be a cause of stem cell
            leukemia lymphoma syndrome (SCLL). Several transcript variants
            encoding the same protein have been found for this gene. [provided
            by RefSeq, Jul 2010].
            
            Sequence Note:.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ224901.1, SRR14372079.1692051.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1377
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.11"
     Protein         1..1377
                     /product="zinc finger MYM-type protein 2 isoform 1"
                     /note="zinc finger protein 198; rearranged in an atypical
                     myeloproliferative disorder; fused in myeloproliferative
                     disorders protein; zinc finger, MYM-type 2"
                     /calculated_mol_wt=154781
     Region          85..177
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Site            159
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Region          273..305
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Site            305
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Region          327..363
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          368..409
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          420..456
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          462..502
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          531..570
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          634..671
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          722..758
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          764..799
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Site            838
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Site            913..914
                     /site_type="other"
                     /note="Breakpoint for translocation to form ZMYM2-FGFR1;
                     propagated from UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Site            958
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Region          983..1002
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Region          1028..1064
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Site            1064
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CU65; propagated from
                     UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Region          1192..1360
                     /region_name="DUF3504"
                     /note="Domain of unknown function (DUF3504); pfam12012"
                     /db_xref="CDD:432262"
     Site            1376
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9UBW7.1)"
     CDS             1..1377
                     /gene="ZMYM2"
                     /gene_synonym="FIM; MYM; NECRC; RAMP; SCLL; ZNF198"
                     /coded_by="NM_003453.6:242..4375"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS45016.1"
                     /db_xref="GeneID:7750"
                     /db_xref="HGNC:HGNC:12989"
                     /db_xref="MIM:602221"
ORIGIN      
        1 mdtssvggle ltdqtpvllg stamatsltn vgnsfsgpan plvsrsnkfq nssveddddv
       61 vfiepvqppp psvpvvadqr titftsskne elqgndskit psskelasqk gsvsetivid
      121 deedmetnqg qeknssnfie rrppetknrt ndvdfstssf srskvnagmg nsgittepds
      181 eiqianvttl etgvssvndg qlentdgrdm nlmithvtsl qntnlgdvsn glqssnfgvn
      241 iqtytpslts qtktgvgpfn pgrmnvagdv fqngesathh npdswisqsa sfprnqkqpg
      301 vdslspvasl pkqifqpsvq qqptkpvkvt canckkplqk gqtayqrkgs ahlfcsttcl
      361 ssfshkpapk klcvmckkdi ttmkgtivaq vdssesfqef cstsclslye dkqnptkgal
      421 nksrcticgk lteirhevsf knmthklcsd hcfnryrman glimncceqc geylpskgag
      481 nnvlvidgqq krfccqscvs eykqvgshps flkevrdhmq dsflmqpeky gklttctgcr
      541 tqcrffdmtq cigpngymep ycstacmnsh ktkyaksqsl giichfckrn slpqyqatmp
      601 dgklynfcns scvakfqals mqsspngqfv apsdiqlkcn ycknsfcskp eilewenkvh
      661 qfcsktcsdd ykklhcivty ceycqeektl hetvnfsgvk rpfcsegckl lykqdfarrl
      721 glrcvtcnyc sqlckkgatk eldgvvrdfc sedcckkfqd wyykaarcdc cksqgtlker
      781 vqwrgemkhf cdqhcllrfy cqqnepnmtt qkgpenlhyd qgcqtsrtkm tgsapppspt
      841 pnkemknkav lckpltmtka tyckphmqtk scqtddtwrt eyvpvpipvp vyipvpmhmy
      901 sqnipvpttv pvpvpvpvfl papldsseki paaieelksk vssdaldtel ltmtdmmsed
      961 egktettnin sviietdiig sdllknsdpe tqssmpdvpy epdldieidf praaeeldme
     1021 nefllppvfg eeyeeqprpr skkkgakrka vsgyqshdds sdnsecsfpf kytygvnawk
     1081 hwvktrqlde dllvldelks sksvklkedl lshttaelny glahfvneir rpngenyapd
     1141 siyylclgiq eylcgsnrkd nifidpgyqt feqelnkilr swqpsilpdg sifsrveedy
     1201 lwrikqlgsh spvallntlf yfntkyfglk tveqhlrlsf gtvfrhwkkn pltmenkacl
     1261 ryqvsslcgt dnedkittgk rkheddepvf eqientanps rcpvkmfecy lskspqnlnq
     1321 rmdvfylqpe cssstdspvw ytstsldrnt lenmlvrvll vkdiydkdny eldedtd
//
LOCUS       NP_001028678              44 aa            linear   PRI 31-DEC-2022
DEFINITION  cleavage stimulation factor subunit 3 isoform 3 [Homo sapiens].
ACCESSION   NP_001028678
VERSION     NP_001028678.1
DBSOURCE    REFSEQ: accession NM_001033506.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 44)
  AUTHORS   Grozdanov PN, Masoumzadeh E, Latham MP and MacDonald CC.
  TITLE     The structural basis of CstF-77 modulation of cleavage and
            polyadenylation through stimulation of CstF-64 activity
  JOURNAL   Nucleic Acids Res 46 (22), 12022-12039 (2018)
   PUBMED   30257008
  REMARK    GeneRIF: Reverse genetics and nuclear magnetic resonance studies of
            recombinant CstF-64 (RRM-Hinge) and CstF-77
            (monkeytail-carboxy-terminal domain) indicate that the last 30
            amino acids of CstF-77 increases the stability of the RRM, thus
            altering the affinity of the complex for RNA. These results provide
            new insights into the mechanism by which CstF regulates the
            location of the RNA cleavage site during Cleavage/polyadenylation.
REFERENCE   2  (residues 1 to 44)
  AUTHORS   Yang W, Hsu PL, Yang F, Song JE and Varani G.
  TITLE     Reconstitution of the CstF complex unveils a regulatory role for
            CstF-50 in recognition of 3'-end processing signals
  JOURNAL   Nucleic Acids Res 46 (2), 493-503 (2018)
   PUBMED   29186539
  REMARK    GeneRIF: Data show that the recruitment of CstF subunit CstF-50 to
            CstF via interaction with cleavage stimulation factor, 3' pre-RNA,
            subunit 3, 77kDa protein (CstF-77) and establish that the hexameric
            assembly of CstF.
REFERENCE   3  (residues 1 to 44)
  AUTHORS   Hasegawa Y, Taylor D, Ovchinnikov DA, Wolvetang EJ, de Torrente L
            and Mar JC.
  TITLE     Variability of Gene Expression Identifies Transcriptional
            Regulators of Early Human Embryonic Development
  JOURNAL   PLoS Genet 11 (8), e1005428 (2015)
   PUBMED   26288249
  REMARK    GeneRIF: Results from a study on gene variability markers in
            early-stage human embryos shows that CSTF3 is a putative
            variability marker for the 3-day, 8-cell embryo stage.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 44)
  AUTHORS   Mick E, McGough J, Deutsch CK, Frazier JA, Kennedy D and Goldberg
            RJ.
  TITLE     Genome-wide association study of proneness to anger
  JOURNAL   PLoS One 9 (1), e87257 (2014)
   PUBMED   24489884
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 44)
  AUTHORS   Luo W, Ji Z, Pan Z, You B, Hoque M, Li W, Gunderson SI and Tian B.
  TITLE     The conserved intronic cleavage and polyadenylation site of CstF-77
            gene imparts control of 3' end processing activity through feedback
            autoregulation and by U1 snRNP
  JOURNAL   PLoS Genet 9 (7), e1003613 (2013)
   PUBMED   23874216
  REMARK    GeneRIF: Thus, the conserved intronic pA of the CstF-77 gene may
            function as a sensor for cellular C/P and splicing activities,
            controlling the homeostasis of CstF-77 and C/P activity and
            impacting cell proliferation and differentiation.
REFERENCE   6  (residues 1 to 44)
  AUTHORS   Takagaki Y and Manley JL.
  TITLE     Complex protein interactions within the human polyadenylation
            machinery identify a novel component
  JOURNAL   Mol Cell Biol 20 (5), 1515-1525 (2000)
   PUBMED   10669729
REFERENCE   7  (residues 1 to 44)
  AUTHORS   Murthy KG and Manley JL.
  TITLE     The 160-kD subunit of human cleavage-polyadenylation specificity
            factor coordinates pre-mRNA 3'-end formation
  JOURNAL   Genes Dev 9 (21), 2672-2683 (1995)
   PUBMED   7590244
REFERENCE   8  (residues 1 to 44)
  AUTHORS   Takagaki Y and Manley JL.
  TITLE     A polyadenylation factor subunit is the human homologue of the
            Drosophila suppressor of forked protein
  JOURNAL   Nature 372 (6505), 471-474 (1994)
   PUBMED   7984242
REFERENCE   9  (residues 1 to 44)
  AUTHORS   Takagaki Y and Manley JL.
  TITLE     A human polyadenylation factor is a G protein beta-subunit
            homologue
  JOURNAL   J Biol Chem 267 (33), 23471-23474 (1992)
   PUBMED   1358884
REFERENCE   10 (residues 1 to 44)
  AUTHORS   Takagaki Y, MacDonald CC, Shenk T and Manley JL.
  TITLE     The human 64-kDa polyadenylylation factor contains a
            ribonucleoprotein-type RNA binding domain and unusual auxiliary
            motifs
  JOURNAL   Proc Natl Acad Sci U S A 89 (4), 1403-1407 (1992)
   PUBMED   1741396
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG435786.1 and BC009792.1.
            
            Summary: The protein encoded by this gene is one of three
            (including CSTF1 and CSTF2) cleavage stimulation factors that
            combine to form the cleavage stimulation factor complex (CSTF).
            This complex is involved in the polyadenylation and 3' end cleavage
            of pre-mRNAs. The encoded protein functions as a homodimer and
            interacts directly with both CSTF1 and CSTF2 in the CSTF complex.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) uses an alternate splice site
            in the 5' coding region, compared to variant 1. The encoded protein
            (isoform 3) is shorter and has a unique C-terminus, compared to
            isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BU685495.1, CA841871.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..44
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     Protein         1..44
                     /product="cleavage stimulation factor subunit 3 isoform 3"
                     /note="CSTF 77 kDa subunit; CF-1 77 kDa subunit; cleavage
                     stimulation factor 77 kDa subunit; cleavage stimulation
                     factor, 3' pre-RNA, subunit 3, 77kD; cleavage stimulation
                     factor, 3' pre-RNA, subunit 3, 77kDa"
                     /calculated_mol_wt=4820
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (Q12996.1)"
     CDS             1..44
                     /gene="CSTF3"
                     /gene_synonym="CSTF-77"
                     /coded_by="NM_001033506.2:156..290"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS44564.1"
                     /db_xref="GeneID:1479"
                     /db_xref="HGNC:HGNC:2485"
                     /db_xref="MIM:600367"
ORIGIN      
        1 msgdgateqa aeyvpekvkk aekkleenpy dldawsilir eaqv
//
LOCUS       NP_001005275             314 aa            linear   PRI 31-DEC-2022
DEFINITION  olfactory receptor 4A15 [Homo sapiens].
ACCESSION   NP_001005275
VERSION     NP_001005275.2
DBSOURCE    REFSEQ: accession NM_001005275.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 314)
  AUTHORS   Chung SA, Taylor KE, Graham RR, Nititham J, Lee AT, Ortmann WA,
            Jacob CO, Alarcon-Riquelme ME, Tsao BP, Harley JB, Gaffney PM,
            Moser KL, Petri M, Demirci FY, Kamboh MI, Manzi S, Gregersen PK,
            Langefeld CD, Behrens TW and Criswell LA.
  CONSRTM   SLEGEN
  TITLE     Differential genetic associations for systemic lupus erythematosus
            based on anti-dsDNA autoantibody production
  JOURNAL   PLoS Genet 7 (3), e1001323 (2011)
   PUBMED   21408207
REFERENCE   2  (residues 1 to 314)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (residues 1 to 314)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP005639.2.
            On Jun 16, 2021 this sequence version replaced NP_001005275.1.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641526.1/ ENSP00000493060.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..314
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q11"
     Protein         1..314
                     /product="olfactory receptor 4A15"
                     /note="olfactory receptor OR11-118"
                     /calculated_mol_wt=35176
     Region          23..289
                     /region_name="7tmA_OR4A-like"
                     /note="olfactory receptor 4A and related proteins, member
                     of the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15939"
                     /db_xref="CDD:320605"
     Region          24..50
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320605"
     Region          57..83
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320605"
     Site            order(79,82..83,95..100,102..103,106,151,153..157,193,
                     196..198,200..202,204..205,249,252..253,255..256,259,
                     263..264,266..268,271,274..275)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320605"
     Region          95..125
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320605"
     Region          138..159
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320605"
     Region          193..223
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320605"
     Region          229..259
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320605"
     Region          264..289
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320605"
     CDS             1..314
                     /gene="OR4A15"
                     /gene_synonym="OR11-118"
                     /coded_by="NM_001005275.2:1..945"
                     /db_xref="CCDS:CCDS31500.2"
                     /db_xref="GeneID:81328"
                     /db_xref="HGNC:HGNC:15152"
ORIGIN      
        1 mknknnvtef illgltqnpe gqkvlfvtfl liymvtimgn lliivtimas qslgspmyff
       61 laslsfidtv ystafapkmi vdllsekkti sfqgcmaqlf mdhlfagaev illvvmaydr
      121 ymaickplhe litmnrrvcv lmllaawigg flhslvqflf iyqlpfcgpn vidnflcdly
      181 pllklactnt yvtglsmian ggaicavtff tillsygvil hslktqsleg krkafytcas
      241 hvtvvilffv pciflyarpn stfpidksmt vvltfitpml npliytlkna emksamrklw
      301 skkvslagkw lyhs
//
LOCUS       NP_066934                971 aa            linear   PRI 22-JAN-2023
DEFINITION  reversion-inducing cysteine-rich protein with Kazal motifs isoform
            1 precursor [Homo sapiens].
ACCESSION   NP_066934
VERSION     NP_066934.1
DBSOURCE    REFSEQ: accession NM_021111.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 971)
  AUTHORS   Liu C, Zhao F, Sun P, Han W, Hong M, Wu J and Zhang X.
  TITLE     [miR-181c promotes the migration and angiogenesis of human A549
            cells via targeting inhibition of reversion-inducing cysteine-rich
            protein with Kazal motifs (RECK)]
  JOURNAL   Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 38 (12), 1084-1090 (2022)
   PUBMED   36585230
  REMARK    GeneRIF: [miR-181c promotes the migration and angiogenesis of human
            A549 cells via targeting inhibition of reversion-inducing
            cysteine-rich protein with Kazal motifs (RECK)].
REFERENCE   2  (residues 1 to 971)
  AUTHORS   Qin L, Liu L, Wu Y, Chen Y, Wu Y, Luo H, Xi Y, Xiu F, Hu J, Chen L,
            Wu N, He J, Zeng Y, Zhu C and You X.
  TITLE     Mycoplasma pneumoniae downregulates RECK to promote matrix
            metalloproteinase-9 secretion by bronchial epithelial cells
  JOURNAL   Virulence 13 (1), 1270-1284 (2022)
   PUBMED   35892136
  REMARK    GeneRIF: Mycoplasma pneumoniae downregulates RECK to promote matrix
            metalloproteinase-9 secretion by bronchial epithelial cells.
REFERENCE   3  (residues 1 to 971)
  AUTHORS   Said EM, Salem AA, Shousha HI, Ahmad ES, Alazzouny MA, Ahmed IA,
            Elfeky HM and Abdelsalam FM.
  TITLE     RECK gene polymorphisms in hepatitis B-related hepatocellular
            carcinoma: A case-control study
  JOURNAL   Arab J Gastroenterol 23 (3), 201-205 (2022)
   PUBMED   35941073
  REMARK    GeneRIF: RECK gene polymorphisms in hepatitis B-related
            hepatocellular carcinoma: A case-control study.
REFERENCE   4  (residues 1 to 971)
  AUTHORS   Maria Marquez-Gonzalez R, Margarita Saucedo-Sarinana A,
            Barros-Nunez P, Patricia Gallegos-Arreola M, Ibet Juarez-Vazquez C,
            Daniel Pineda-Razo T, Eugenia Marin-Contreras M, Esperanza
            Flores-Martinez S and Alejandra Rosales-Reynoso M.
  TITLE     RECK Variants are Associated with Clinicopathological Features and
            Decreased Susceptibility in Mexican Patients with Colorectal Cancer
  JOURNAL   Tohoku J Exp Med 257 (2), 163-169 (2022)
   PUBMED   35444107
  REMARK    GeneRIF: RECK Variants are Associated with Clinicopathological
            Features and Decreased Susceptibility in Mexican Patients with
            Colorectal Cancer.
REFERENCE   5  (residues 1 to 971)
  AUTHORS   Abo El-Khair SM, Elalfy H, Diasty M, Ebrahim EE and Elsamanoudy AZ.
  TITLE     Methylation degree of metalloproteinase inhibitor RECK gene: Links
            to RECK protein level and hepatocellular carcinoma in chronic HCV
            infection patients
  JOURNAL   J Biochem Mol Toxicol 35 (10), e22886 (2021)
   PUBMED   34392581
  REMARK    GeneRIF: Methylation degree of metalloproteinase inhibitor RECK
            gene: Links to RECK protein level and hepatocellular carcinoma in
            chronic HCV infection patients.
REFERENCE   6  (residues 1 to 971)
  AUTHORS   Masui T, Doi R, Koshiba T, Fujimoto K, Tsuji S, Nakajima S, Koizumi
            M, Toyoda E, Tulachan S, Ito D, Kami K, Mori T, Wada M, Noda M and
            Imamura M.
  TITLE     RECK expression in pancreatic cancer: its correlation with lower
            invasiveness and better prognosis
  JOURNAL   Clin Cancer Res 9 (5), 1779-1784 (2003)
   PUBMED   12738734
  REMARK    GeneRIF: High RECK protein is associated with invasiveness of
            pancreatic cancer by MMP-2 activation
REFERENCE   7  (residues 1 to 971)
  AUTHORS   Eisenberg I, Hochner H, Sadeh M, Argov Z and Mitrani-Rosenbaum S.
  TITLE     Establishment of the genomic structure and identification of
            thirteen single-nucleotide polymorphisms in the human RECK gene
  JOURNAL   Cytogenet Genome Res 97 (1-2), 58-61 (2002)
   PUBMED   12438739
  REMARK    GeneRIF: Four SNPs were identified in the coding region of the gene
            (exons 1, 9, 13 and 15), and the remaining nine in introns 5, 8,
            10, 12, 15 and 17.
REFERENCE   8  (residues 1 to 971)
  AUTHORS   Oh J, Takahashi R, Kondo S, Mizoguchi A, Adachi E, Sasahara RM,
            Nishimura S, Imamura Y, Kitayama H, Alexander DB, Ide C, Horan TP,
            Arakawa T, Yoshida H, Nishikawa S, Itoh Y, Seiki M, Itohara S,
            Takahashi C and Noda M.
  TITLE     The membrane-anchored MMP inhibitor RECK is a key regulator of
            extracellular matrix integrity and angiogenesis
  JOURNAL   Cell 107 (6), 789-800 (2001)
   PUBMED   11747814
REFERENCE   9  (residues 1 to 971)
  AUTHORS   Takahashi C, Sheng Z, Horan TP, Kitayama H, Maki M, Hitomi K,
            Kitaura Y, Takai S, Sasahara RM, Horimoto A, Ikawa Y, Ratzkin BJ,
            Arakawa T and Noda M.
  TITLE     Regulation of matrix metalloproteinase-9 and inhibition of tumor
            invasion by the membrane-anchored glycoprotein RECK
  JOURNAL   Proc Natl Acad Sci U S A 95 (22), 13221-13226 (1998)
   PUBMED   9789069
REFERENCE   10 (residues 1 to 971)
  AUTHORS   Gerstein M.
  TITLE     Measurement of the effectiveness of transitive sequence comparison,
            through a third 'intermediate' sequence
  JOURNAL   Bioinformatics 14 (8), 707-714 (1998)
   PUBMED   9789096
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292653.1, D50406.1 and
            BC050306.1.
            
            Summary: The protein encoded by this gene is a cysteine-rich,
            extracellular protein with protease inhibitor-like domains whose
            expression is suppressed strongly in many tumors and cells
            transformed by various kinds of oncogenes. In normal cells, this
            membrane-anchored glycoprotein may serve as a negative regulator
            for matrix metalloproteinase-9, a key enzyme involved in tumor
            invasion and metastasis. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2015].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.68219.1, D50406.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377966.4/ ENSP00000367202.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..971
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     Protein         1..971
                     /product="reversion-inducing cysteine-rich protein with
                     Kazal motifs isoform 1 precursor"
                     /note="suppression of tumorigenicity 5
                     (reversion-inducing-cysteine-rich protein with kazal
                     motifs); membrane-anchored glycoprotein (metastasis and
                     invasion); suppression of tumorigenicity 15
                     (reversion-inducing-cysteine-rich protein with kazal
                     motifs); reversion-inducing cysteine-rich protein with
                     Kazal motifs; suppressor of tumorigenicity 15 protein"
                     /calculated_mol_wt=103953
     sig_peptide     1..26
                     /calculated_mol_wt=2523
     mat_peptide     27..971
                     /product="reversion-inducing cysteine-rich protein with
                     Kazal motifs isoform 1"
                     /calculated_mol_wt=103953
     Region          <633..699
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     Region          <802..>886
                     /region_name="Amnionless"
                     /note="pfam14828"
                     /db_xref="CDD:434248"
     CDS             1..971
                     /gene="RECK"
                     /gene_synonym="ST15"
                     /coded_by="NM_021111.3:87..3002"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS6597.1"
                     /db_xref="GeneID:8434"
                     /db_xref="HGNC:HGNC:11345"
                     /db_xref="MIM:605227"
ORIGIN      
        1 matvraslrg alllllavag vaevagglap gsagalccnh skdnqmcrdv ceqifsskse
       61 srlkhllqra pdycpetmve iwncmnsslp gvfkksdgwv glgccelaia lecrqackqa
      121 sskndiskvc rkeyenalfs cisrnemgsv ccsyaghhtn creycqaifr tdsspgpsqi
      181 kavenycasi spqlihcvnn ytqsypmrnp tdslyccdra edhacqnack rilmskktem
      241 eivdgliegc ktqplpqdpl wqcflessqs vhpgvtvhpp pstgldgakl hccskantst
      301 crelctklys mswgntqswq efdrfceynp vevsmltcla dvrepcqlgc rnltyctnfn
      361 nrptelfrsc naqsdqgamn dmklwekgsi kmpfinipvl dikkcqpemw kaiacslqik
      421 pchsksrgsi icksdcveil kkcgdqnkfp edhtaesice llsptddlkn cipldtylrp
      481 stlgniveev thpcnpnpcp anelcevnrk gcpsgdpclp yfcvqgcklg easdfivrqg
      541 tliqvpssag evgcykicsc gqsgllencm emhcidlqks civggkrksh gtsfsidcnv
      601 cscfagnlvc strlclsehs seddrrtftg lpcncadqfv pvcgqngrty psaciarcvg
      661 lqdhqfefgs cmskdpcnpn pcqknqrcip kpqvclttfd kfgcsqyecv prqlacdqvq
      721 dpvcdtdhme hnnlctlyqr gkslsykgpc qpfcratepv cghngetyss vcaaysdrva
      781 vdyygdcqav gvlsehssva ecasvkcpsl laagckpiip pgaccplcag mlrvlfdkek
      841 ldtiakvtnk kpitvleilq kirmhvsvpq cdvfgyfsie seiviliipv dhypkalqie
      901 acnkeaekie slinsdsptl ashvplsali isqvqvsssv psagvrarps chslllplsl
      961 glalhllwty n
//
LOCUS       NP_001387624             240 aa            linear   PRI 12-FEB-2023
DEFINITION  small nuclear ribonucleoprotein-associated protein N isoform b
            [Homo sapiens].
ACCESSION   NP_001387624
VERSION     NP_001387624.1
DBSOURCE    REFSEQ: accession NM_001400695.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 240)
  AUTHORS   Song Y, Guo F, Zhao YY, Ma XJ, Wu LN, Yu JF, Ji HF, Shao MW, Huang
            FJ, Zhao L, Fan XJ, Xu YN, Wang QZ and Qin GJ.
  TITLE     Novel lncRNA-prader willi/angelman region RNA, SNRPN neighbour
            (PWARSN) aggravates tubular epithelial cell pyroptosis by
            regulating TXNIP via dual way in diabetic kidney disease
  JOURNAL   Cell Prolif 56 (2), e13349 (2023)
   PUBMED   36316968
  REMARK    GeneRIF: Novel lncRNA-prader willi/angelman region RNA, SNRPN
            neighbour (PWARSN) aggravates tubular epithelial cell pyroptosis by
            regulating TXNIP via dual way in diabetic kidney disease.
REFERENCE   2  (residues 1 to 240)
  AUTHORS   Zhao X, Chang S, Liu X, Wang S, Zhang Y, Lu X, Zhang T, Zhang H and
            Wang L.
  TITLE     Imprinting aberrations of SNRPN, ZAC1 and INPP5F genes involved in
            the pathogenesis of congenital heart disease with extracardiac
            malformations
  JOURNAL   J Cell Mol Med 24 (17), 9898-9907 (2020)
   PUBMED   32693431
  REMARK    GeneRIF: Imprinting aberrations of SNRPN, ZAC1 and INPP5F genes
            involved in the pathogenesis of congenital heart disease with
            extracardiac malformations.
REFERENCE   3  (residues 1 to 240)
  AUTHORS   Lorgen-Ritchie M, Murray AD, Ferguson-Smith AC, Richards M, Horgan
            GW, Phillips LH, Hoad G, Gall I, Harrison K, McNeill G, Ito M and
            Haggarty P.
  TITLE     Imprinting methylation in SNRPN and MEST1 in adult blood predicts
            cognitive ability
  JOURNAL   PLoS One 14 (2), e0211799 (2019)
   PUBMED   30707743
  REMARK    GeneRIF: Imprinting methylation in SNRPN and MEST1 in adult blood
            predicts cognitive ability.
            Erratum:[PLoS One. 2019 Apr 10;14(4):e0215422. PMID: 30969998]
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 240)
  AUTHORS   Gray TA, Saitoh S and Nicholls RD.
  TITLE     An imprinted, mammalian bicistronic transcript encodes two
            independent proteins
  JOURNAL   Proc Natl Acad Sci U S A 96 (10), 5616-5621 (1999)
   PUBMED   10318933
REFERENCE   5  (residues 1 to 240)
  AUTHORS   Kuslich CD, Kobori JA, Mohapatra G, Gregorio-King C and Donlon TA.
  TITLE     Prader-Willi syndrome is caused by disruption of the SNRPN gene
  JOURNAL   Am J Hum Genet 64 (1), 70-76 (1999)
   PUBMED   9915945
REFERENCE   6  (residues 1 to 240)
  AUTHORS   Reed ML and Leff SE.
  TITLE     Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi
            syndrome
  JOURNAL   Nat Genet 6 (2), 163-167 (1994)
   PUBMED   7512861
  REMARK    GeneRIF: SNRPN gene is imprinted, with monoallelic expression from
            the paternal allele in fetal brain and heart, and in adult brain.
REFERENCE   7  (residues 1 to 240)
  AUTHORS   Glenn CC, Porter KA, Jong MT, Nicholls RD and Driscoll DJ.
  TITLE     Functional imprinting and epigenetic modification of the human
            SNRPN gene
  JOURNAL   Hum Mol Genet 2 (12), 2001-2005 (1993)
   PUBMED   8111367
REFERENCE   8  (residues 1 to 240)
  AUTHORS   Ozcelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E,
            Schinzel A and Francke U.
  TITLE     Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed
            gene in the Prader-Willi syndrome critical region
  JOURNAL   Nat Genet 2 (4), 265-269 (1992)
   PUBMED   1303277
REFERENCE   9  (residues 1 to 240)
  AUTHORS   Leff SE, Brannan CI, Reed ML, Ozcelik T, Francke U, Copeland NG and
            Jenkins NA.
  TITLE     Maternal imprinting of the mouse Snrpn gene and conserved linkage
            homology with the human Prader-Willi syndrome region
  JOURNAL   Nat Genet 2 (4), 259-264 (1992)
   PUBMED   1303276
REFERENCE   10 (residues 1 to 240)
  AUTHORS   Schmauss C, Brines ML and Lerner MR.
  TITLE     The gene encoding the small nuclear ribonucleoprotein-associated
            protein N is expressed at high levels in neurons
  JOURNAL   J Biol Chem 267 (12), 8521-8529 (1992)
   PUBMED   1533223
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090983.13, AC090602.16 and
            AC124312.5.
            
            Summary: This gene is located within the Prader-Willi Syndrome
            critical region on chromosome 15 and is imprinted and expressed
            from the paternal allele. It encodes a component of the small
            nuclear ribonucleoprotein complex, which functions in pre-mRNA
            processing and may contribute to tissue-specific alternative
            splicing. Alternative promoter use and alternative splicing result
            in a multitude of transcript variants encoding the same protein.
            Transcript variants that initiate at the CpG island-associated
            imprinting center may be bicistronic and also encode the SNRPN
            upstream reading frame protein (SNURF) from an upstream open
            reading frame. In addition, long spliced transcripts for small
            nucleolar RNA host gene 14 (SNHG14) may originate from the
            promoters at this locus and share exons with this gene. Alterations
            in this region are associated with parental imprint switch failure,
            which may cause Angelman syndrome or Prader-Willi syndrome.
            [provided by RefSeq, Mar 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.3250221.1,
                                           SRR1660803.111615.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene :: PMID: 7512861
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.2"
     Protein         1..240
                     /product="small nuclear ribonucleoprotein-associated
                     protein N isoform b"
                     /note="tissue-specific splicing protein; SM protein N;
                     small nuclear ribonucleoprotein-associated protein N; sm
                     protein D"
                     /calculated_mol_wt=24483
     Region          5..83
                     /region_name="Sm_B"
                     /note="Sm protein B; cd01717"
                     /db_xref="CDD:212464"
     Site            order(8,14,22..23,32,36,43..44,69..82)
                     /site_type="other"
                     /note="heptamer interface [polypeptide binding]"
                     /db_xref="CDD:212464"
     Site            order(17..23,25..37,39..43)
                     /site_type="other"
                     /note="Sm1 motif"
                     /db_xref="CDD:212464"
     Site            order(20..25,27,33..34,37,39,41,60,65,67,69..79)
                     /site_type="other"
                     /note="putative hexamer interface [polypeptide binding]"
                     /db_xref="CDD:212464"
     Site            order(36..39,49,59..61,73,75)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:212464"
     Site            69..80
                     /site_type="other"
                     /note="Sm2 motif"
                     /db_xref="CDD:212464"
     Site            108
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P14678; Dimethylated
                     arginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P14678;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P63163; propagated from
                     UniProtKB/Swiss-Prot (P63162.1)"
     Site            112
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P14678; Dimethylated
                     arginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P14678;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P14678; propagated from
                     UniProtKB/Swiss-Prot (P63162.1)"
     Site            147
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P14678; propagated from
                     UniProtKB/Swiss-Prot (P63162.1)"
     Region          163..240
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P63162.1)"
     Site            172
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P63162.1)"
     Region          175..236
                     /region_name="Repeat-rich region"
                     /note="propagated from UniProtKB/Swiss-Prot (P63162.1)"
     CDS             1..240
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /coded_by="NM_001400695.1:940..1662"
                     /note="isoform b is encoded by transcript variant 53"
                     /db_xref="CCDS:CCDS10017.1"
                     /db_xref="GeneID:6638"
                     /db_xref="HGNC:HGNC:11164"
                     /db_xref="MIM:182279"
ORIGIN      
        1 mtvgksskml qhidyrmrci lqdgrifigt fkafdkhmnl ilcdcdefrk ikpknakqpe
       61 reekrvlglv llrgenlvsm tvegpppkdt giarvplaga aggpgvgraa grgvpagvpi
      121 pqapaglagp vrgvggpsqq vmtpqgrgtv aaaavaatas iagaptqypp grgtppppvg
      181 ratpppgima pppgmrppmg ppiglpparg tpigmpppgm rppppgirgp pppgmrpprp
//
LOCUS       NP_001310529            1820 aa            linear   PRI 11-MAR-2023
DEFINITION  supervillin isoform 4 [Homo sapiens].
ACCESSION   NP_001310529
VERSION     NP_001310529.1
DBSOURCE    REFSEQ: accession NM_001323600.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1820)
  AUTHORS   Zhou J, Que Y, Pan L, Li X, Zhu C, Jin L and Li S.
  TITLE     Supervillin Contributes to LPS-induced Inflammatory Response in
            THP-1 Cell-derived Macrophages
  JOURNAL   Inflammation 45 (1), 356-371 (2022)
   PUBMED   34480249
  REMARK    GeneRIF: Supervillin Contributes to LPS-induced Inflammatory
            Response in THP-1 Cell-derived Macrophages.
REFERENCE   2  (residues 1 to 1820)
  AUTHORS   Yang G, Hiruma S, Kitamura A, Kinjo M, Mishra M and Uehara R.
  TITLE     Molecular basis of functional exchangeability between ezrin and
            other actin-membrane associated proteins during cytokinesis
  JOURNAL   Exp Cell Res 403 (2), 112600 (2021)
   PUBMED   33862101
  REMARK    GeneRIF: Molecular basis of functional exchangeability between
            ezrin and other actin-membrane associated proteins during
            cytokinesis.
REFERENCE   3  (residues 1 to 1820)
  AUTHORS   Zhang Z, Chen Y, Wu Y, Hao Y, Zhao X, Wang X, Wang Y, Xi Y and
            Zhang X.
  TITLE     A twin-pair analysis indicates congenital scoliosis is associated
            with allele-specific methylation in the SVIL gene
  JOURNAL   Mol Med Rep 22 (3), 2093-2100 (2020)
   PUBMED   32582973
  REMARK    GeneRIF: A twinpair analysis indicates congenital scoliosis is
            associated with allelespecific methylation in the SVIL gene.
REFERENCE   4  (residues 1 to 1820)
  AUTHORS   Hedberg-Oldfors C, Meyer R, Nolte K, Abdul Rahim Y, Lindberg C,
            Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft
            F, Lausberg E, Hitpass L, Gotzl R, Luna EJ, Lochmuller H,
            Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I,
            Oldfors A and Knopp C.
  TITLE     Loss of supervillin causes myopathy with myofibrillar
            disorganization and autophagic vacuoles
  JOURNAL   Brain 143 (8), 2406-2420 (2020)
   PUBMED   32779703
  REMARK    GeneRIF: Loss of supervillin causes myopathy with myofibrillar
            disorganization and autophagic vacuoles.
            Erratum:[Brain. 2021 Apr 12;144(3):e34. PMID: 33313686]
REFERENCE   5  (residues 1 to 1820)
  AUTHORS   Zhao C, Zhao Z, Wang Z, Hu L, Wang H and Fang Z.
  TITLE     Supervillin promotes tumor angiogenesis in liver cancer
  JOURNAL   Oncol Rep 44 (2), 674-684 (2020)
   PUBMED   32468064
  REMARK    GeneRIF: Supervillin promotes tumor angiogenesis in liver cancer.
REFERENCE   6  (residues 1 to 1820)
  AUTHORS   Ting HJ, Yeh S, Nishimura K and Chang C.
  TITLE     Supervillin associates with androgen receptor and modulates its
            transcriptional activity
  JOURNAL   Proc Natl Acad Sci U S A 99 (2), 661-666 (2002)
   PUBMED   11792840
  REMARK    GeneRIF: Supervillin associates with androgen receptor and
            modulates its transcriptional activity.
REFERENCE   7  (residues 1 to 1820)
  AUTHORS   Kim M, Jiang LH, Wilson HL, North RA and Surprenant A.
  TITLE     Proteomic and functional evidence for a P2X7 receptor signalling
            complex
  JOURNAL   EMBO J 20 (22), 6347-6358 (2001)
   PUBMED   11707406
REFERENCE   8  (residues 1 to 1820)
  AUTHORS   Wulfkuhle JD, Donina IE, Stark NH, Pope RK, Pestonjamasp KN,
            Niswonger ML and Luna EJ.
  TITLE     Domain analysis of supervillin, an F-actin bundling plasma membrane
            protein with functional nuclear localization signals
  JOURNAL   J Cell Sci 112 (Pt 13), 2125-2136 (1999)
   PUBMED   10362542
REFERENCE   9  (residues 1 to 1820)
  AUTHORS   Pope RK, Pestonjamasp KN, Smith KP, Wulfkuhle JD, Strassel CP,
            Lawrence JB and Luna EJ.
  TITLE     Cloning, characterization, and chromosomal localization of human
            superillin (SVIL)
  JOURNAL   Genomics 52 (3), 342-351 (1998)
   PUBMED   9867483
REFERENCE   10 (residues 1 to 1820)
  AUTHORS   Pestonjamasp KN, Pope RK, Wulfkuhle JD and Luna EJ.
  TITLE     Supervillin (p205): A novel membrane-associated, F-actin-binding
            protein in the villin/gelsolin superfamily
  JOURNAL   J Cell Biol 139 (5), 1255-1269 (1997)
   PUBMED   9382871
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL159170.14, AL160060.11 and
            AL158167.15.
            
            Summary: This gene encodes a bipartite protein with distinct amino-
            and carboxy-terminal domains. The amino-terminus contains nuclear
            localization signals and the carboxy-terminus contains numerous
            consecutive sequences with extensive similarity to proteins in the
            gelsolin family of actin-binding proteins, which cap, nucleate,
            and/or sever actin filaments. The gene product is tightly
            associated with both actin filaments and plasma membranes,
            suggesting a role as a high-affinity link between the actin
            cytoskeleton and the membrane. The encoded protein appears to aid
            in both myosin II assembly during cell spreading and disassembly of
            focal adhesions. Several transcript variants encoding different
            isoforms of supervillin have been described. [provided by RefSeq,
            Apr 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.193697.1,
                                           SRR14038192.717404.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1820
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p11.23"
     Protein         1..1820
                     /product="supervillin isoform 4"
                     /note="membrane-associated F-actin binding protein p205;
                     archvillin; p205/p250"
                     /calculated_mol_wt=203941
     Region          1..174
                     /region_name="Interaction with MYLK.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (O95425.2)"
     Region          36..100
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95425.2)"
     Site            50
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O95425.2)"
     Site            221
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95425.2)"
     Site            238
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K4L3; propagated from
                     UniProtKB/Swiss-Prot (O95425.2)"
     Site            240
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O95425.2)"
     Site            245
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O95425.2)"
     Site            253
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O95425.2)"
     Site            259
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K4L3; propagated from
                     UniProtKB/Swiss-Prot (O95425.2)"
     Site            261
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (O95425.2)"
     Site            270
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     Phosphoserine. /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O95425.2)"
     Region          1048..1144
                     /region_name="gelsolin_S2_like"
                     /note="Gelsolin sub-domain 2-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11289"
                     /db_xref="CDD:200445"
     Region          1169..1269
                     /region_name="gelsolin_like"
                     /note="Tandemly repeated domains found in gelsolin,
                     severin, villin, and related proteins; cd11280"
                     /db_xref="CDD:200436"
     Region          1352..1465
                     /region_name="gelsolin_S4_like"
                     /note="Gelsolin sub-domain 4-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11293"
                     /db_xref="CDD:200449"
     Site            order(1368..1369,1423,1429..1430,1432..1434,1436..1438,
                     1440..1441,1449,1451)
                     /site_type="other"
                     /note="putative actin binding interface [polypeptide
                     binding]"
                     /db_xref="CDD:200449"
     Site            1456
                     /site_type="other"
                     /note="putative nucleotide binding residue [chemical
                     binding]"
                     /db_xref="CDD:200449"
     Region          1485..1590
                     /region_name="gelsolin_S5_like"
                     /note="Gelsolin sub-domain 5-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11288"
                     /db_xref="CDD:200444"
     Site            1493
                     /site_type="other"
                     /note="putative nucleotide binding residue [chemical
                     binding]"
                     /db_xref="CDD:200444"
     Region          1606..1725
                     /region_name="gelsolin_like"
                     /note="Tandemly repeated domains found in gelsolin,
                     severin, villin, and related proteins; cd11280"
                     /db_xref="CDD:200436"
     Region          1785..1820
                     /region_name="VHP"
                     /note="Villin headpiece domain; pfam02209"
                     /db_xref="CDD:426660"
     CDS             1..1820
                     /gene="SVIL"
                     /gene_synonym="MFM10"
                     /coded_by="NM_001323600.1:570..6032"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:6840"
                     /db_xref="HGNC:HGNC:11480"
                     /db_xref="MIM:604126"
ORIGIN      
        1 mkrkeriarr legiendtqp illqsctglv thrlleedtp rymrasdpas phigrsneee
       61 etsdsslekq trskyctets gvhgdspygs gtmdthsles kaeriaryka errrqlaeky
      121 gltldpeads eylsrytksr kepdavekrg gksdkqeess rdasslypgt etmglrtcag
      181 eskdyalhvg dgssdpevll nienqrrgqe lsatrqahdl spaaessstf sfsgrdssft
      241 evprspkhah ssslqqaasr spsfgdpqls pearprctsh setptvddee kvderaklsv
      301 aakrllfrem eksfdeqnvp krrsrntave qrlrrlqdrs ltqpitteev viaatepipa
      361 scsggthpvm arlpsptvar savqparlqa sahqkalakd qtnegkelae qgepdsstls
      421 laeklalfnk lsqpvskais trnridtrqr rmnaryqtqp vtlgeveqvq sgklipfspa
      481 vntsvstvas tvapmyagdl rtkppldhna satdykfsss iensdspvrs ilksqawqpl
      541 vegsenkgml reygeteskr altgrdsgme kygsfeeaea sypilnrare gdshkeskya
      601 vprrgslera nppithlgde pkefsmakmn aqgnldlrdr lpfeekveve nvmkrkfslr
      661 aaefgeptse qtgtaagkti aqttapvswk pqdsseqpqe klcknpcamf aageiktptg
      721 eglldspskt msikerlall kksgeedwrn rlsrrqeggk apasslhtqe agrslikkrv
      781 tesresqmti eerkqlitvr eeawktrgrg aandstqftv agrmvkkgla sptaitpvas
      841 picgktrgtt pvskpledie arpdmqlesd lkldrletfl rrlnnkvggm hetvltvtgk
      901 svkevmkpdd detfakfyrs vdynmprspv emdedfdvif dpyapkltss vaehkravrp
      961 krrvqasknp lkmlaaredl lqeyteqrln vafmeskrmk vekmssnsnf sevtlaglas
     1021 kenfsnvslr svnlteqnsn nsavpykrlm llqikgrrhv qtrlvepras alnsgdcfll
     1081 lsphccflwv gefanvieka kaselatliq tkrelgcrat yiqtieegin ththaakdfw
     1141 kllggqtsyq sagdpkedel yeaaiietnc iyrlmddklv pdddywgkip kcsllqpkev
     1201 lvfdfgsevy vwhgkevtla qrkiafqlak hlwngtfdye ncdinpldpg ecnpliprkg
     1261 qgrpdwaifg rltehnetil fkekfldwte lkrsneknpg elaqhkedpr tdvkaydvtr
     1321 mvsmpqttag tildgvnvgr gyglveghdr rqfeitsvsv dvwhilefdy srlpkqsigq
     1381 fhegdayvvk wkfmvstavg srqkgehsvr aagkekcvyf fwqgrhstvs ekgtsalmtv
     1441 eldeergaqv qvlqgkeppc flqcfqggmv vhsgrreeee envqsewrly cvrgevpveg
     1501 nllevachcs slrsrtsmvv lnvnkaliyl whgckaqaht kevgrtaank ikeqcpleag
     1561 lhssskvtih ecdegseplg fwdalgrrdr kaydcmlqdp gsfnfaprlf ilssssgdfa
     1621 atefvypara psvvssmpfl qedlysapqp alflvdnhhe vylwqgwwpi enkitgsari
     1681 rwasdrksam etvlqyckgk nlkkpapksy lihagleplt ftnmfpsweh rediaeitem
     1741 dtevsnqitl vedvlaklck tiypladlla rplpegvdpl kleiyltded fefaldmtrd
     1801 eynalpawkq vnlkkakglf
//
LOCUS       NP_000365                367 aa            linear   PRI 12-MAR-2023
DEFINITION  uroporphyrinogen decarboxylase [Homo sapiens].
ACCESSION   NP_000365
VERSION     NP_000365.3
DBSOURCE    REFSEQ: accession NM_000374.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 367)
  AUTHORS   Cunha L, Kuti M, Bishop DF, Mezei M, Zeng L, Zhou MM and Desnick
            RJ.
  TITLE     Human uroporphyrinogen III synthase: NMR-based mapping of the
            active site
  JOURNAL   Proteins 71 (2), 855-873 (2008)
   PUBMED   18004775
REFERENCE   2  (residues 1 to 367)
  AUTHORS   Whitby FG, Phillips JD, Kushner JP and Hill CP.
  TITLE     Crystal structure of human uroporphyrinogen decarboxylase
  JOURNAL   EMBO J 17 (9), 2463-2471 (1998)
   PUBMED   9564029
REFERENCE   3  (residues 1 to 367)
  AUTHORS   Rudnick S, Phillips J and Bonkovsky H.
  CONSRTM   Porphyrias Consortium of the Rare Diseases Clinical Research
            Network
  TITLE     Hepatoerythropoietic Porphyria
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24175354
REFERENCE   4  (residues 1 to 367)
  AUTHORS   Rudnick S, Phillips J and Bonkovsky H.
  CONSRTM   Porphyrias Consortium of the Rare Diseases Clinical Research
            Network
  TITLE     Familial Porphyria Cutanea Tarda
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23741761
REFERENCE   5  (residues 1 to 367)
  AUTHORS   de Verneuil H, Bourgeois F, de Rooij F, Siersema PD, Wilson JH,
            Grandchamp B and Nordmann Y.
  TITLE     Characterization of a new mutation (R292G) and a deletion at the
            human uroporphyrinogen decarboxylase locus in two patients with
            hepatoerythropoietic porphyria
  JOURNAL   Hum Genet 89 (5), 548-552 (1992)
   PUBMED   1634232
REFERENCE   6  (residues 1 to 367)
  AUTHORS   Garey JR, Hansen JL, Harrison LM, Kennedy JB and Kushner JP.
  TITLE     A point mutation in the coding region of uroporphyrinogen
            decarboxylase associated with familial porphyria cutanea tarda
  JOURNAL   Blood 73 (4), 892-895 (1989)
   PUBMED   2920211
REFERENCE   7  (residues 1 to 367)
  AUTHORS   Romana M, Dubart A, Beaupain D, Chabret C, Goossens M and Romeo PH.
  TITLE     Structure of the gene for human uroporphyrinogen decarboxylase
  JOURNAL   Nucleic Acids Res 15 (18), 7343-7356 (1987)
   PUBMED   3658695
REFERENCE   8  (residues 1 to 367)
  AUTHORS   Romeo,P.H., Raich,N., Dubart,A., Beaupain,D., Pryor,M., Kushner,J.,
            Cohen-Solal,M. and Goossens,M.
  TITLE     Molecular cloning and nucleotide sequence of a complete human
            uroporphyrinogen decarboxylase cDNA
  JOURNAL   J Biol Chem 261 (21), 9825-9831 (1986)
   PUBMED   3015909
REFERENCE   9  (residues 1 to 367)
  AUTHORS   Dubart,A., Mattei,M.G., Raich,N., Beaupain,D., Romeo,P.H.,
            Mattei,J.F. and Goossens,M.
  TITLE     Assignment of human uroporphyrinogen decarboxylase (URO-D) to the
            p34 band of chromosome 1
  JOURNAL   Hum Genet 73 (3), 277-279 (1986)
   PUBMED   3460962
REFERENCE   10 (residues 1 to 367)
  AUTHORS   Elder,G.H., Lee,G.B. and Tovey,J.A.
  TITLE     Decreased activity of hepatic uroporphyrinogen decarboxylase in
            sporadic porphyria cutanea tarda
  JOURNAL   N Engl J Med 299 (6), 274-278 (1978)
   PUBMED   661926
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291877.1 and AL359473.22.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 21, 2005 this sequence version replaced NP_000365.2.
            
            Summary: This gene encodes an enzyme in the heme biosynthetic
            pathway. This enzyme is responsible for catalyzing the conversion
            of uroporphyrinogen to coproporphyrinogen through the removal of
            four carboxymethyl side chains. Mutations and deficiency in this
            enzyme are known to cause familial porphyria cutanea tarda and
            hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the functional protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.6910.1,
                                           SRR5189658.54891.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000246337.9/ ENSP00000246337.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     Protein         1..367
                     /product="uroporphyrinogen decarboxylase"
                     /EC_number="4.1.1.37"
                     /note="uroporphyrinogen III decarboxylase"
                     /calculated_mol_wt=40656
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (P06132.2)"
     Region          20..359
                     /region_name="URO-D"
                     /note="Uroporphyrinogen decarboxylase (URO-D) is a dimeric
                     cytosolic enzyme that decarboxylates the four acetate side
                     chains of uroporphyrinogen III (uro-III) to create
                     coproporphyrinogen III, without requiring any prosthetic
                     groups or cofactors. This reaction...; cd00717"
                     /db_xref="CDD:238368"
     Site            order(36..41,46,50,55,82..88,100,105,154,164,170,217,
                     219..220,261,339)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:238368"
     Site            order(37,41,86,164,219,339)
                     /site_type="active"
                     /db_xref="CDD:238368"
     Site            86
                     /site_type="other"
                     /note="Transition state stabilizer; propagated from
                     UniProtKB/Swiss-Prot (P06132.2)"
     CDS             1..367
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /coded_by="NM_000374.5:13..1116"
                     /db_xref="CCDS:CCDS518.1"
                     /db_xref="GeneID:7389"
                     /db_xref="HGNC:HGNC:12591"
                     /db_xref="MIM:613521"
ORIGIN      
        1 meanglgpqg fpelkndtfl raawgeetdy tpvwcmrqag rylpefretr aaqdffstcr
       61 speacceltl qplrrfplda aiifsdilvv pqalgmevtm vpgkgpsfpe plreeqdler
      121 lrdpevvase lgyvfqaitl trqrlagrvp ligfagapwt lmtymveggg sstmaqakrw
      181 lyqrpqashq llriltdalv pylvgqvvag aqalqlfesh aghlgpqlfn kfalpyirdv
      241 akqvkarlre aglapvpmii fakdghfale elaqagyevv gldwtvapkk arecvgktvt
      301 lqgnldpcal yaseeeigql vkqmlddfgp hryianlghg lypdmdpehv gafvdavhkh
      361 srllrqn
//
LOCUS       NP_001356738             181 aa            linear   PRI 14-MAR-2023
DEFINITION  hematopoietic SH2 domain-containing protein isoform 6 [Homo
            sapiens].
ACCESSION   NP_001356738
VERSION     NP_001356738.1
DBSOURCE    REFSEQ: accession NM_001369809.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 181)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (residues 1 to 181)
  AUTHORS   Wang J and Xiong Y.
  TITLE     HSH2D contributes to methotrexate resistance in human T-cell acute
            lymphoblastic leukaemia
  JOURNAL   Oncol Rep 44 (5), 2121-2129 (2020)
   PUBMED   33000278
  REMARK    GeneRIF: HSH2D contributes to methotrexate resistance in human
            Tcell acute lymphoblastic leukaemia.
REFERENCE   3  (residues 1 to 181)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 181)
  AUTHORS   Huang J, Burston JJ, Li L, Ashraf S, Mapp PI, Bennett AJ, Ravipati
            S, Pousinis P, Barrett DA, Scammell BE and Chapman V.
  TITLE     Targeting the D Series Resolvin Receptor System for the Treatment
            of Osteoarthritis Pain
  JOURNAL   Arthritis Rheumatol 69 (5), 996-1008 (2017)
   PUBMED   27860453
  REMARK    GeneRIF: Both ALX and ChemR23 were present in human synovium and
            medial tibial plateau bone obtained following total knee
            replacement surgery for osteoarthritis.
REFERENCE   5  (residues 1 to 181)
  AUTHORS   Petri MH, Thul S, Ovchinnikova O and Back M.
  TITLE     Differential regulation of monocytic expression of leukotriene and
            lipoxin receptors
  JOURNAL   Prostaglandins Other Lipid Mediat 121 (Pt A), 138-143 (2015)
   PUBMED   26248046
  REMARK    GeneRIF: pro-inflammatory stimuli lead to FPR2/ALX expression while
            LXA4 induces an anti-inflammatory response
REFERENCE   6  (residues 1 to 181)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 181)
  AUTHORS   Shapiro MJ, Chen YY and Shapiro VS.
  TITLE     The carboxyl-terminal segment of the adaptor protein ALX directs
            its nuclear export during T cell activation
  JOURNAL   J Biol Chem 280 (46), 38242-38246 (2005)
   PUBMED   16169852
  REMARK    GeneRIF: ALX exerts its effect on IL-2 up-regulation in the
            cytoplasm and responds to TCR and CD28 signaling
REFERENCE   8  (residues 1 to 181)
  AUTHORS   Shapiro MJ, Powell P, Ndubuizu A, Nzerem C and Shapiro VS.
  TITLE     The ALX Src homology 2 domain is both necessary and sufficient to
            inhibit T cell receptor/CD28-mediated up-regulation of RE/AP
  JOURNAL   J Biol Chem 279 (39), 40647-40652 (2004)
   PUBMED   15284240
  REMARK    GeneRIF: the ALX SH2 domain plays a critical role in ALX function
            downstream of CD28
REFERENCE   9  (residues 1 to 181)
  AUTHORS   Greene TA, Powell P, Nzerem C, Shapiro MJ and Shapiro VS.
  TITLE     Cloning and characterization of ALX, an adaptor downstream of CD28
  JOURNAL   J Biol Chem 278 (46), 45128-45134 (2003)
   PUBMED   12960172
  REMARK    GeneRIF: ALX is an adaptor involved in T cell activation and
            interleukin-2 (IL-2) promoter activation
REFERENCE   10 (residues 1 to 181)
  AUTHORS   Oda T, Muramatsu MA, Isogai T, Masuho Y, Asano S and Yamashita T.
  TITLE     HSH2: a novel SH2 domain-containing adapter protein involved in
            tyrosine kinase signaling in hematopoietic cells
  JOURNAL   Biochem Biophys Res Commun 288 (5), 1078-1086 (2001)
   PUBMED   11700021
  REMARK    GeneRIF: involved in tyrosine kinase signaling in hematopoietic
            cells
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008894.9 and AC020911.9.
            
            Summary: T-cell activation requires 2 signals: recognition of
            antigen by the T-cell receptor (see TCR; MIM 186880) and a
            costimulatory signal provided primarily by CD28 (MIM 186760) in
            naive T cells. HSH2 is a target of both of these signaling pathways
            (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM, Mar
            2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.210949.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142363, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..181
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     Protein         1..181
                     /product="hematopoietic SH2 domain-containing protein
                     isoform 6"
                     /note="adaptor in lymphocytes of unknown function X;
                     hematopoietic SH2 domain-containing protein"
                     /calculated_mol_wt=20583
     Region          26..127
                     /region_name="SH2_HSH2_like"
                     /note="Src homology 2 domain found in hematopoietic SH2
                     (HSH2) protein; cd09946"
                     /db_xref="CDD:198199"
     Site            order(41,59,79,81)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198199"
     Site            order(80,109)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198199"
     CDS             1..181
                     /gene="HSH2D"
                     /gene_synonym="ALX; HSH2"
                     /coded_by="NM_001369809.1:118..663"
                     /note="isoform 6 is encoded by transcript variant 8"
                     /db_xref="GeneID:84941"
                     /db_xref="HGNC:HGNC:24920"
                     /db_xref="MIM:608349"
ORIGIN      
        1 mteagklplp lpprldwfvh tqmgqlaqdg vpewfhgais redaenlles qplgsflirv
       61 shshvgytls ykaqsscchf mvkllddgtf mipgekvaht sldalvtfhq qkpieprrel
      121 ltqpcrqwpr klparclplr ryvydrrlap ptwlrgrsgg gqqlpeeaps rmrmrsyslv
      181 l
//
LOCUS       NP_001317276             707 aa            linear   PRI 17-MAR-2023
DEFINITION  double-strand break repair protein MRE11 isoform 3 [Homo sapiens].
ACCESSION   NP_001317276 XP_016873262
VERSION     NP_001317276.1
DBSOURCE    REFSEQ: accession NM_001330347.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 707)
  AUTHORS   Jhan JH, Ke HL, Liang PI, Hsu WC, Lee YC, Lin HH, Wu YR, Huang AM,
            Lee HY, Yeh HC, Wu WJ, Li CC and Li WM.
  TITLE     High MRE11 Expression Level Predicts Poor Survival in Upper Tract
            Urothelial Carcinomas
  JOURNAL   Appl Immunohistochem Mol Morphol 31 (2), 94-100 (2023)
   PUBMED   36688483
  REMARK    GeneRIF: High MRE11 Expression Level Predicts Poor Survival in
            Upper Tract Urothelial Carcinomas.
REFERENCE   2  (residues 1 to 707)
  AUTHORS   Liu W, Zheng M, Zhang R, Jiang Q, Du G, Wu Y, Yang C, Li F, Li W,
            Wang L, Wu J, Shi L, Li W, Zhang K, Zhou Z, Liu R, Gao Y, Huang X,
            Fan S, Zhi X, Jiang D and Chen C.
  TITLE     RNF126-Mediated MRE11 Ubiquitination Activates the DNA Damage
            Response and Confers Resistance of Triple-Negative Breast Cancer to
            Radiotherapy
  JOURNAL   Adv Sci (Weinh) 10 (5), e2203884 (2023)
   PUBMED   36563124
  REMARK    GeneRIF: RNF126-Mediated MRE11 Ubiquitination Activates the DNA
            Damage Response and Confers Resistance of Triple-Negative Breast
            Cancer to Radiotherapy.
REFERENCE   3  (residues 1 to 707)
  AUTHORS   Gut F, Kashammer L, Lammens K, Bartho JD, Boggusch AM, van de Logt
            E, Kessler B and Hopfner KP.
  TITLE     Structural mechanism of endonucleolytic processing of blocked DNA
            ends and hairpins by Mre11-Rad50
  JOURNAL   Mol Cell 82 (18), 3513-3522 (2022)
   PUBMED   35987200
  REMARK    GeneRIF: Structural mechanism of endonucleolytic processing of
            blocked DNA ends and hairpins by Mre11-Rad50.
REFERENCE   4  (residues 1 to 707)
  AUTHORS   Zhang T, Yang H, Zhou Z, Bai Y, Wang J and Wang W.
  TITLE     Crosstalk between SUMOylation and ubiquitylation controls DNA end
            resection by maintaining MRE11 homeostasis on chromatin
  JOURNAL   Nat Commun 13 (1), 5133 (2022)
   PUBMED   36050397
  REMARK    GeneRIF: Crosstalk between SUMOylation and ubiquitylation controls
            DNA end resection by maintaining MRE11 homeostasis on chromatin.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 707)
  AUTHORS   Zeng X, Zhao F, Cui G, Zhang Y, Deshpande RA, Chen Y, Deng M,
            Kloeber JA, Shi Y, Zhou Q, Zhang C, Hou J, Kim W, Tu X, Yan Y, Xu
            Z, Chen L, Gao H, Guo G, Liu J, Zhu Q, Cao Y, Huang J, Wu Z, Zhu S,
            Yin P, Luo K, Mer G, Paull TT, Yuan J, Tao K and Lou Z.
  TITLE     METTL16 antagonizes MRE11-mediated DNA end resection and confers
            synthetic lethality to PARP inhibition in pancreatic ductal
            adenocarcinoma
  JOURNAL   Nat Cancer 3 (9), 1088-1104 (2022)
   PUBMED   36138131
  REMARK    GeneRIF: METTL16 antagonizes MRE11-mediated DNA end resection and
            confers synthetic lethality to PARP inhibition in pancreatic ductal
            adenocarcinoma.
REFERENCE   6  (residues 1 to 707)
  AUTHORS   Trujillo KM, Yuan SS, Lee EY and Sung P.
  TITLE     Nuclease activities in a complex of human recombination and DNA
            repair factors Rad50, Mre11, and p95
  JOURNAL   J Biol Chem 273 (34), 21447-21450 (1998)
   PUBMED   9705271
REFERENCE   7  (residues 1 to 707)
  AUTHORS   Paull TT and Gellert M.
  TITLE     The 3' to 5' exonuclease activity of Mre 11 facilitates repair of
            DNA double-strand breaks
  JOURNAL   Mol Cell 1 (7), 969-979 (1998)
   PUBMED   9651580
REFERENCE   8  (residues 1 to 707)
  AUTHORS   Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR 3rd,
            Hays L, Morgan WF and Petrini JH.
  TITLE     The hMre11/hRad50 protein complex and Nijmegen breakage syndrome:
            linkage of double-strand break repair to the cellular DNA damage
            response
  JOURNAL   Cell 93 (3), 477-486 (1998)
   PUBMED   9590181
REFERENCE   9  (residues 1 to 707)
  AUTHORS   Dolganov GM, Maser RS, Novikov A, Tosto L, Chong S, Bressan DA and
            Petrini JH.
  TITLE     Human Rad50 is physically associated with human Mre11:
            identification of a conserved multiprotein complex implicated in
            recombinational DNA repair
  JOURNAL   Mol Cell Biol 16 (9), 4832-4841 (1996)
   PUBMED   8756642
REFERENCE   10 (residues 1 to 707)
  AUTHORS   Petrini JH, Walsh ME, DiMare C, Chen XN, Korenberg JR and Weaver
            DT.
  TITLE     Isolation and characterization of the human MRE11 homologue
  JOURNAL   Genomics 29 (1), 80-86 (1995)
   PUBMED   8530104
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK308318.1, AP000786.4 and
            AP000765.5.
            On Aug 23, 2016 this sequence version replaced XP_016873262.1.
            
            Summary: This gene encodes a nuclear protein involved in homologous
            recombination, telomere length maintenance, and DNA double-strand
            break repair. By itself, the protein has 3' to 5' exonuclease
            activity and endonuclease activity. The protein forms a complex
            with the RAD50 homolog; this complex is required for nonhomologous
            joining of DNA ends and possesses increased single-stranded DNA
            endonuclease and 3' to 5' exonuclease activities. In conjunction
            with a DNA ligase, this protein promotes the joining of
            noncomplementary ends in vitro using short homologies near the ends
            of the DNA fragments. This gene has a pseudogene on chromosome 3.
            Alternative splicing of this gene results in two transcript
            variants encoding different isoforms. [provided by RefSeq, Jul
            2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.3023463.1,
                                           SRR14038195.295197.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..707
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q21"
     Protein         1..707
                     /product="double-strand break repair protein MRE11 isoform
                     3"
                     /note="meiotic recombination 11 homolog A; AT-like
                     disease; double-strand break repair protein MRE11A; DNA
                     recombination and repair protein; endo/exonuclease Mre11;
                     MRE11 homolog 1; MRE11 homolog A, double strand break
                     repair nuclease; meiotic recombination 11 homolog 1; MRE11
                     meiotic recombination 11 homolog A; MRE11 double strand
                     break repair nuclease A; MRE11 homolog, double strand
                     break repair nuclease A; MRE11 meiotic recombination
                     11-like protein A"
                     /calculated_mol_wt=80391
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (P49959.3)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61216; propagated from
                     UniProtKB/Swiss-Prot (P49959.3)"
     Region          10..402
                     /region_name="mre11"
                     /note="DNA repair protein (mre11); TIGR00583"
                     /db_xref="CDD:273153"
     Site            275
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49959.3)"
     Region          507..540
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P49959.3)"
     Site            618
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49959.3)"
     Site            640
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61216; propagated from
                     UniProtKB/Swiss-Prot (P49959.3)"
     Site            648
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P49959.3)"
     Region          650..707
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P49959.3)"
     Site            677
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49959.3)"
     Site            687
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P49959.3)"
     Site            688
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P49959.3)"
     Site            700
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P49959.3)"
     CDS             1..707
                     /gene="MRE11"
                     /gene_synonym="ATLD; HNGS1; MRE11A; MRE11B"
                     /coded_by="NM_001330347.2:160..2283"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS81617.1"
                     /db_xref="GeneID:4361"
                     /db_xref="HGNC:HGNC:7230"
                     /db_xref="MIM:600814"
ORIGIN      
        1 mstadaldde ntfkilvatd ihlgfmekda vrgndtfvtl deilrlaqen evdfillggd
       61 lfhenkpsrk tlhtclellr kycmgdrpvq feilsdqsvn fgfskfpwvn yqdgnlnisi
      121 pvfsihgnhd dptgadalca ldilscagfv nhfgrsmsve kidispvllq kgstkialyg
      181 lgsipderly rmfvnkkvtm lrpkedensw fnlfvihqnr skhgstnfip eqflddfidl
      241 viwgheheck iaptkneqql fyisqpgssv vtslspgeav kkhvgllrik grkmnmhkip
      301 lhtvrqffme divlanhpdi fnpdnpkvtq aiqsfcleki eemlenaere rlgnshqpek
      361 plvrlrvdys ggfepfsvlr fsqkfvdrva npkdiihffr hreqkektge einfgklitk
      421 psegttlrve dlvkqyfqta eknvqlsllt ergmgeavqe fvdkeekdai eelvkyqlek
      481 tqrflkerhi daledkidee vrrfretrqk ntneeddevr eamtraralr sqseesasaf
      541 saddlmsidl aeqmandsdd sisaatnkgr grgrgrrggr gqnsasrggs qrgrdtglet
      601 strsrnskta vsasrnmsii dafkstrqqp srnvttknys evievdesdv eedifpttsk
      661 tdqrwsstss skimsqsqvs kgvdfessed ddddpfmnts slrrnrr
//
LOCUS       NP_001293084             448 aa            linear   PRI 19-MAR-2023
DEFINITION  T-complex protein 1 subunit epsilon isoform d [Homo sapiens].
ACCESSION   NP_001293084
VERSION     NP_001293084.1
DBSOURCE    REFSEQ: accession NM_001306155.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 448)
  AUTHORS   Scalia F, Lo Bosco G, Paladino L, Vitale AM, Noori L, Conway de
            Macario E, Macario AJL, Bucchieri F, Cappello F and Lo Celso F.
  TITLE     Structural and Dynamic Disturbances Revealed by Molecular Dynamics
            Simulations Predict the Impact on Function of CCT5 Chaperonin
            Mutations Associated with Rare Severe Distal Neuropathies
  JOURNAL   Int J Mol Sci 24 (3), 2018 (2023)
   PUBMED   36768350
  REMARK    GeneRIF: Structural and Dynamic Disturbances Revealed by Molecular
            Dynamics Simulations Predict the Impact on Function of CCT5
            Chaperonin Mutations Associated with Rare Severe Distal
            Neuropathies.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 448)
  AUTHORS   Li Y, Liu C, Zhang X, Huang X, Liang S, Xing F and Tian H.
  TITLE     CCT5 induces epithelial-mesenchymal transition to promote gastric
            cancer lymph node metastasis by activating the Wnt/beta-catenin
            signalling pathway
  JOURNAL   Br J Cancer 126 (12), 1684-1694 (2022)
   PUBMED   35194191
  REMARK    GeneRIF: CCT5 induces epithelial-mesenchymal transition to promote
            gastric cancer lymph node metastasis by activating the
            Wnt/beta-catenin signalling pathway.
REFERENCE   3  (residues 1 to 448)
  AUTHORS   Goos H, Kinnunen M, Salokas K, Tan Z, Liu X, Yadav L, Zhang Q, Wei
            GH and Varjosalo M.
  TITLE     Human transcription factor protein interaction networks
  JOURNAL   Nat Commun 13 (1), 766 (2022)
   PUBMED   35140242
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 448)
  AUTHORS   Meng Y, Yang L, Wei X, Luo H, Hu Y, Tao X, He J, Zheng X, Xu Q, Luo
            K, Yu G and Luo Q.
  TITLE     CCT5 interacts with cyclin D1 promoting lung adenocarcinoma cell
            migration and invasion
  JOURNAL   Biochem Biophys Res Commun 567, 222-229 (2021)
   PUBMED   34217974
  REMARK    GeneRIF: CCT5 interacts with cyclin D1 promoting lung
            adenocarcinoma cell migration and invasion.
REFERENCE   5  (residues 1 to 448)
  AUTHORS   Sergeeva OA, Tran MT, Haase-Pettingell C and King JA.
  TITLE     Biochemical characterization of mutants in chaperonin proteins CCT4
            and CCT5 associated with hereditary sensory neuropathy
  JOURNAL   J Biol Chem 289 (40), 27470-27480 (2014)
   PUBMED   25124038
  REMARK    GeneRIF: H147R CCT5 was not as efficient in chaperoning these
            substrates as wild type CCT5.
REFERENCE   6  (residues 1 to 448)
  AUTHORS   Bouhouche A, Benomar A, Bouslam N, Chkili T and Yahyaoui M.
  TITLE     Mutation in the epsilon subunit of the cytosolic
            chaperonin-containing t-complex peptide-1 (Cct5) gene causes
            autosomal recessive mutilating sensory neuropathy with spastic
            paraplegia
  JOURNAL   J Med Genet 43 (5), 441-443 (2006)
   PUBMED   16399879
  REMARK    GeneRIF: A missense mutation within the CCT5 gene is associated
            with autosomal recessive mutilating sensory neuropathy with spastic
            paraplegia.
REFERENCE   7  (residues 1 to 448)
  AUTHORS   Roperch JP, Lethrone F, Prieur S, Piouffre L, Israeli D, Tuynder M,
            Nemani M, Pasturaud P, Gendron MC, Dausset J, Oren M, Amson RB and
            Telerman A.
  TITLE     SIAH-1 promotes apoptosis and tumor suppression through a network
            involving the regulation of protein folding, unfolding, and
            trafficking: identification of common effectors with p53 and
            p21(Waf1)
  JOURNAL   Proc Natl Acad Sci U S A 96 (14), 8070-8073 (1999)
   PUBMED   10393949
REFERENCE   8  (residues 1 to 448)
  AUTHORS   Liou AK and Willison KR.
  TITLE     Elucidation of the subunit orientation in CCT (chaperonin
            containing TCP1) from the subunit composition of CCT
            micro-complexes
  JOURNAL   EMBO J 16 (14), 4311-4316 (1997)
   PUBMED   9250675
REFERENCE   9  (residues 1 to 448)
  AUTHORS   Roobol A, Holmes FE, Hayes NV, Baines AJ and Carden MJ.
  TITLE     Cytoplasmic chaperonin complexes enter neurites developing in vitro
            and differ in subunit composition within single cells
  JOURNAL   J Cell Sci 108 (Pt 4), 1477-1488 (1995)
   PUBMED   7615668
REFERENCE   10 (residues 1 to 448)
  AUTHORS   Kubota H, Hynes G, Carne A, Ashworth A and Willison K.
  TITLE     Identification of six Tcp-1-related genes encoding divergent
            subunits of the TCP-1-containing chaperonin
  JOURNAL   Curr Biol 4 (2), 89-99 (1994)
   PUBMED   7953530
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB449481.1, AC012640.12,
            AK302383.1 and FJ224303.1.
            
            Summary: The protein encoded by this gene is a molecular chaperone
            that is a member of the chaperonin containing TCP1 complex (CCT),
            also known as the TCP1 ring complex (TRiC). This complex consists
            of two identical stacked rings, each containing eight different
            proteins. Unfolded polypeptides enter the central cavity of the
            complex and are folded in an ATP-dependent manner. The complex
            folds various proteins, including actin and tubulin. Mutations in
            this gene cause hereditary sensory and autonomic neuropathy with
            spastic paraplegia (HSNSP). Alternative splicing results in
            multiple transcript variants. Related pseudogenes have been
            identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015].
            
            Transcript Variant: This variant (4) contains an alternate 5'
            terminal exon, resulting in an alternate 5' UTR and translation
            initiation at a downstream in-frame start codon, and it also lacks
            an in-frame exon in the 5' coding region, compared to variant 1.
            The encoded isoform (d) is shorter at the N-terminus, compared to
            isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302383.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..448
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.2"
     Protein         1..448
                     /product="T-complex protein 1 subunit epsilon isoform d"
                     /note="T-complex protein 1 subunit epsilon; epididymis
                     secretory protein Li 69; chaperonin containing TCP1,
                     subunit 5 (epsilon)"
                     /calculated_mol_wt=49395
     Region          1..442
                     /region_name="TCP1_epsilon"
                     /note="TCP-1 (CTT or eukaryotic type II) chaperonin
                     family, epsilon subunit. Chaperonins are involved in
                     productive folding of proteins. They share a common
                     general morphology, a double toroid of 2 stacked rings. In
                     contrast to bacterial group I chaperonins...; cd03339"
                     /db_xref="CDD:239455"
     Site            order(14..16,78,311,329,369,413,415)
                     /site_type="other"
                     /note="ATP/Mg binding site [chemical binding]"
                     /db_xref="CDD:239455"
     Site            order(349,367,376,378..379,382)
                     /site_type="active"
                     /note="stacking interactions [active]"
                     /db_xref="CDD:239455"
     CDS             1..448
                     /gene="CCT5"
                     /gene_synonym="CCT-epsilon; CCTE; HEL-S-69; PNAS-102;
                     TCP-1-epsilon"
                     /coded_by="NM_001306155.2:367..1713"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS82990.1"
                     /db_xref="GeneID:22948"
                     /db_xref="HGNC:HGNC:1618"
                     /db_xref="MIM:610150"
ORIGIN      
        1 maakavantm rtslgpnvla galleeaeql ldrgihpiri adgyeqaarv aiehldkisd
       61 svlvdikdte pliqtakttl gskvvnschr qmaeiavnav ltvadmerrd vdfelikveg
      121 kvggrledtk likgvivdkd fshpqmpkkv edakiailtc pfeppkpktk hkldvtsved
      181 ykalqkyeke kfeemiqqik etganlaicq wgfddeanhl llqnnlpavr wvggpeieli
      241 aiatggrivp rfseltaekl gfaglvqeis fgttkdkmlv ieqcknsrav tifirggnkm
      301 iieeakrslh dalcvirnli rdnrvvyggg aaeiscalav sqeadkcptl eqyamrafad
      361 alevipmals ensgmnpiqt mtevrarqvk emnpalgidc lhkgtndmkq qhvietligk
      421 kqqislatqm vrmilkiddi rkpgesee
//
LOCUS       XP_016856832            1058 aa            linear   PRI 20-MAR-2023
DEFINITION  protein phosphatase 1 regulatory subunit 12B isoform X2 [Homo
            sapiens].
ACCESSION   XP_016856832
VERSION     XP_016856832.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001343.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1058
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1058
                     /product="protein phosphatase 1 regulatory subunit 12B
                     isoform X2"
                     /calculated_mol_wt=118170
     Region          61..>290
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          65..154
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Site            order(67..69,71..72,76,79,88,90,92,96..97,100..102,
                     104..105,109,112,121,123,125,129..130,133..135,137..138,
                     142,145,154)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          90..121
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          123..154
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          156..247
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          249..280
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          <565..812
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          669..725
                     /region_name="IPD_MYPT1"
                     /note="inhibitory phosphorylation domain of myosin
                     phosphatase targeting subunit 1(MYPT1); cd21944"
                     /db_xref="CDD:412019"
     Region          942..1047
                     /region_name="PRKG1_interact"
                     /note="cGMP-dependent protein kinase interacting domain;
                     pfam15898"
                     /db_xref="CDD:435003"
     CDS             1..1058
                     /gene="PPP1R12B"
                     /gene_synonym="MYPT2; PP1bp55"
                     /coded_by="XM_017001343.2:154..3330"
                     /db_xref="GeneID:4660"
                     /db_xref="HGNC:HGNC:7619"
                     /db_xref="MIM:603768"
ORIGIN      
        1 maelehlggk raesarmrra eqlrrwrgsl teqepaerrg agrqpltrrg sprvrfedga
       61 vflaacssgd tdevrkllar gadintvnvd gltalhqaci denldmvkfl venranvnqq
      121 dnegwtplha aascgylnia eyfinhgasv givnsegevp sdlaeepamk dllleqvkkq
      181 gvdleqsrke eeqqmlqdar qwlnsgkied vrqarsgata lhvaaakgys evlrlliqag
      241 yelnvqdydg wtplhaaahw gvkeacsila ealcdmdirn klgqtpfdva deglvehlel
      301 lqkkqnvlrs eketrnklie sdlnskiqsg ffknkekmly eeetpksqem eeenkessss
      361 sseeeegede asesetekea dkkpeafvnh snseskssit eqipapaqnt fsassarrfs
      421 sglfnkpeep kdespsswrl glrktgshnm lsevansrep irdrgssiyr ssssprisal
      481 ldnkdkeren ksyisslapr klnstsdiee kenresavnl vrsgsytrql wrdeakgnei
      541 pqtiapstyv stylksasfg rssdptspyi sanrnsspat spitigssts rgsqwqpass
      601 cpapisantt asvhhgrtph ksqadttaek tadnvssstp lcvitnrplp stangvtatp
      661 vlsitgtdss vearekrrsy ltpvrdeeae slrkarsrqa rqtrrstqgv tltdlqeaer
      721 tfsrsraerq aqeqprekpt dteglegspe khepsavpat eagegqqpwg rsldeepich
      781 rlrcpaqpdk pttpaspsts rpslytsshl lwtnrfsvpd sessetttnt ttakemdkne
      841 neeadldeqs skrlsirerr rpkerrrgtg infwtkdede tdgseevket wherlsrles
      901 ggsnpttsds ygdrasarar rearearlat ltsrveedsn rdykklyesa ltenqklktk
      961 lqeaqlelad iksklekvaq kqektsdrss vlemekrerr alerkmseme eemknlhqlk
     1021 qiqtlkqmne qlqaenralt rvvarlsesi essdtqel
//
LOCUS       XP_047284341            1240 aa            linear   PRI 20-MAR-2023
DEFINITION  SCL-interrupting locus protein isoform X5 [Homo sapiens].
ACCESSION   XP_047284341
VERSION     XP_047284341.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428385.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1240
                     /product="SCL-interrupting locus protein isoform X5"
                     /calculated_mol_wt=137613
     Region          33..388
                     /region_name="STIL_N"
                     /note="SCL-interrupting locus protein N-terminus;
                     pfam15253"
                     /db_xref="CDD:434575"
     CDS             1..1240
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /coded_by="XM_047428385.1:230..3952"
                     /db_xref="GeneID:6491"
                     /db_xref="HGNC:HGNC:10879"
                     /db_xref="MIM:181590"
ORIGIN      
        1 mepiypfarp qmntrfpssr mvpfhfppsk calwnptptg dfiylhlsyy rnpklvvtek
       61 tirlayrhak qnkknsscfl lgsltadede egvtltvdrf dpgrevpecl eitptaslpg
      121 dflipckvht qelcsremiv hsvddfssal kalqchicsk dsldcalarn lssnlnisqv
      181 qgtykygylt mdetrkllll lesdpkvysl plvgiwlsgi thiyspqvwa cclryifnss
      241 vqervfsesg nfiivlysmt hkepefyecf pcdgkipdfr fqlltsketl hlfknveppd
      301 knpircelsa esqnaeteff skasknfsik rssqklssgk mpihdhdsgv ededfsprpi
      361 psphpvsqki skiqpsvpel slvldgnfie snplptplem vnnenpplin hlehlkplqp
      421 qlydekhspe veagepslrg ipnqlnqdkp allrhckvrq ppaykkgnph trnsikpssh
      481 ngpshdifek lqtvsagnvq neeypirpst lnsrqsslap qsqphdfvfs phnsgrpmel
      541 qiptpplpsy cstnvcrccq hhshiqyspl nswqgantvg siqdvqseal qkhslfhpsg
      601 cpalycnafc sssspialrp qgdmgscsph sniepspvar ppshmdlcnp qpctvcmhtp
      661 ktesdngmmg lspdayrflt eqdrqlrllq aqiqrlleaq slmpcspktt avedtvqagr
      721 qmelvsveaq sspglhmrkg vsiavstgas lfwnaagedq epdsqmkqdd tkissedmnf
      781 svdinnevts lpgsasslka vdipsfeesn iaveeefnqp lsvsnsslvv rkepdvpvff
      841 psgqlaesvs mclqtgptgg asnnsetsee pkiehvmqpl lhqpsdnqki yqdllgqvnh
      901 llnssskete qpstkaviis hectrtqnvy htkkkthhsr lvdkdcvlna tlkqlrslgv
      961 kidsptkvkk nahnvdhasv lacispeavi sglncmsfan vgmsglspng vdlsmeanai
     1021 alkylnenql sqlsvtrsnq nncdpfsllh intdrstvgl slispnnmsf atkkymkryg
     1081 llqssdnsed eeeppdnads kseyllnqnl rsipeqlggq kepskndhei incsncesvg
     1141 tnadtpvlrn itnevlqtka kqqltekpaf lvknlkpspa vnlrtgkaef tqhpekeneg
     1201 ditifpeslq psetlkqmns mnsvgtfldv krlrqlpklf
//
LOCUS       XP_047282428             264 aa            linear   PRI 20-MAR-2023
DEFINITION  protein MFI isoform X13 [Homo sapiens].
ACCESSION   XP_047282428
VERSION     XP_047282428.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426472.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..264
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..264
                     /product="protein MFI isoform X13"
                     /calculated_mol_wt=31021
     Region          9..214
                     /region_name="C11orf65"
                     /note="chromosome 11 open reading frame 65 and homologs;
                     cd21090"
                     /db_xref="CDD:411042"
     CDS             1..264
                     /gene="C11orf65"
                     /gene_synonym="MFI"
                     /coded_by="XM_047426472.1:162..956"
                     /db_xref="GeneID:160140"
                     /db_xref="HGNC:HGNC:28519"
ORIGIN      
        1 mpwkeeseft kqdkaarviq qawksflvkf ppdiyykift hrpiedlcan sprnyaklpa
       61 khtshnkndh lqeedhsgwy hrienngwrp vsdtfwlstd gmvvedkkes efhfsklkrr
      121 qdlekkrklr kiewmrqmyy sgsleaksth hetlglihta tkglirafed ggidsvmewe
      181 vdevlnwtnt lnfdeyiasw keiatsnssa nfkgfrfnqa qkniynyggd iskmqmgipd
      241 dtyyenvyqe pnvtrltpds tygl
//
LOCUS       XP_011519406             533 aa            linear   PRI 20-MAR-2023
DEFINITION  dnaJ homolog subfamily C member 3 isoform X1 [Homo sapiens].
ACCESSION   XP_011519406
VERSION     XP_011519406.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521104.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..533
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..533
                     /product="dnaJ homolog subfamily C member 3 isoform X1"
                     /calculated_mol_wt=60932
     Region          37..65
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(38,41..42,45..46,48,72,75..76,79..80,82..83,106,
                     109..110,113..114,117)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          41..>456
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     Region          70..100
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          105..132
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          186..211
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(187..188,191..192,194,218,221..222,225..226,
                     228..229,252,255..256,259..260,263)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          216..246
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          251..279
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          285..309
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          330..364
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          369..397
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          403..426
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          421..>527
                     /region_name="DnaJ"
                     /note="DnaJ-class molecular chaperone with C-terminal Zn
                     finger domain [Posttranslational modification, protein
                     turnover, chaperones]; COG0484"
                     /db_xref="CDD:223560"
     CDS             1..533
                     /gene="DNAJC3"
                     /gene_synonym="ACPHD; ERdj6; HP58; P58; p58(IPK); P58IPK;
                     PRKRI"
                     /coded_by="XM_011521104.3:118..1719"
                     /db_xref="GeneID:5611"
                     /db_xref="HGNC:HGNC:9439"
                     /db_xref="MIM:601184"
ORIGIN      
        1 mvapgsvtsr lgsvfpfllv lvdlqyegae cgvnadvekh lelgkkllaa gqladalsqf
       61 haavdgdpdn yiayyrratv flamgkskaa lpdltkviql kmdftaarlq rghlllkqgk
      121 ldeaeddfkk vvfpvpsllg lqrsllddly llfwfflmkk lksnpsenee keaqsqliks
      181 demqrlrsqa lnafgsgdyt aaiafldkil evcvwdaelr elraecfike geprkaisdl
      241 kaasklkndn teafykistl yyqlgdhels lsevreclkl dqdhkrcfah ykqvkklnkl
      301 iesaeelird grytdatsky esvmktepsi aeytvrsker ichcfskdek pveairvcse
      361 vlqmepdnvn alkdraeayl ieemydeaiq dyetaqehne ndqqiregle kaqrllkqsq
      421 krdyykilgv krnakkqeii kayrklalqw hpdnfqneee kkkaekkfid iaaakevlsd
      481 pemrkkfddg edpldaesqq ggggnpfhrs wnswqgfnpf ssggpfrfkf hfn
//
LOCUS       XP_024305544             453 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of G-protein signaling 6 isoform X16 [Homo sapiens].
ACCESSION   XP_024305544
VERSION     XP_024305544.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024449776.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..453
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..453
                     /product="regulator of G-protein signaling 6 isoform X16"
                     /calculated_mol_wt=52114
     Region          31..119
                     /region_name="DEP_RGS7-like"
                     /note="DEP (Dishevelled, Egl-10, and Pleckstrin) domain
                     found in RGS (regulator of G-protein signaling) proteins
                     of the subfamily R7. This subgroup contains RGS7, RGS6,
                     RGS9 and RGS11. They share a common domain architecture,
                     containing, beside the RGS domain; cd04450"
                     /db_xref="CDD:239897"
     Region          116..217
                     /region_name="RGS_DHEX"
                     /note="Regulator of G-protein signalling DHEX domain;
                     pfam18148"
                     /db_xref="CDD:375589"
     Region          258..>285
                     /region_name="GGL"
                     /note="G protein gamma subunit-like motifs, the
                     alpha-helical G-gamma chain dimerizes with the G-beta
                     propeller subunit as part of the heterotrimeric G-protein
                     complex; involved in signal transduction via
                     G-protein-coupled receptors; cl00069"
                     /db_xref="CDD:444679"
     Region          291..415
                     /region_name="RGS_RGS6"
                     /note="Regulator of G protein signaling (RGS) domain found
                     in the RGS6 protein; cd08737"
                     /db_xref="CDD:188691"
     Site            order(305,336..340,381..383,386,393,397)
                     /site_type="other"
                     /note="G-beta-5 interaction site"
                     /db_xref="CDD:188691"
     Site            order(320..322,324..325,358..360,362..364,366..368,391,
                     394..395,397..399,403)
                     /site_type="other"
                     /note="G-alpha interaction site"
                     /db_xref="CDD:188691"
     CDS             1..453
                     /gene="RGS6"
                     /gene_synonym="GAP; HA117; S914"
                     /coded_by="XM_024449776.2:534..1895"
                     /db_xref="GeneID:9628"
                     /db_xref="HGNC:HGNC:10002"
                     /db_xref="MIM:603894"
ORIGIN      
        1 maqgsgdqra vgvadpeess pnmivyckie diitkmqddk tggvpirtvk sflskipsvv
       61 tgtdivqwlm knlsiedpve aihlgsliaa qgyifpisdh vltmkddgtf yrfqapyfwp
      121 sncwepentd yaiylckrtm qnkarlelad yeaenlarlq rafarkwefi fmqaeaqvki
      181 drkkdkterk ildsqerafw dvhrpvpgcv nttemdirkc rrlknpqkvk ksvygvtees
      241 qaqspvhvls qpirkttked irkqitflna qidrhclkms kvaeskepsq qrvkrwgfsf
      301 deilkdqvgr dqflrflese fssenlrfwl avqdlkkqpl qdvakrveei wqeflapgap
      361 sainldshsy eitsqnvkdg grytfedaqe hiyklmksds yarflrsnay qdlllakkkp
      421 eseqgrrtsl ekftrsvgks lagkrltglm qss
//
LOCUS       XP_011520823             590 aa            linear   PRI 20-MAR-2023
DEFINITION  3-phosphoinositide-dependent protein kinase 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011520823
VERSION     XP_011520823.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011522521.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..590
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..590
                     /product="3-phosphoinositide-dependent protein kinase 1
                     isoform X1"
                     /calculated_mol_wt=67084
     Region          114..376
                     /region_name="STKc_PDK1"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Phosphoinositide-dependent kinase 1; cd05581"
                     /db_xref="CDD:270733"
     Site            order(122..126,130,143,145,177,193..194,196,200,202,239,
                     241,243..244,246,256..257,260,276..281,308,314,317)
                     /site_type="active"
                     /db_xref="CDD:270733"
     Site            order(122..125,128,130,143,145,164,177,193..196,199..200,
                     243..244,246,256..257)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270733"
     Site            order(126,200,202,239,241,243,260,276..281,308,314,317)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270733"
     Site            order(256..266,273..281)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270733"
     Region          475..581
                     /region_name="PH_PDK1"
                     /note="3-Phosphoinositide dependent protein kinase 1
                     (PDK1) pleckstrin homology (PH) domain; cd01262"
                     /db_xref="CDD:241293"
     Site            order(499,501,506,508,520,529,555)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:241293"
     CDS             1..590
                     /gene="PDPK1"
                     /gene_synonym="PDK1; PDPK2; PDPK2P; PRO0461"
                     /coded_by="XM_011522521.4:3743..5515"
                     /db_xref="GeneID:5170"
                     /db_xref="HGNC:HGNC:8816"
                     /db_xref="MIM:605213"
ORIGIN      
        1 mlkmwvseie twrflrlaar lslrtrleav gsprlvalcl pwydavpiqs svvlcscpsp
       61 smvrtqtess tppgipggsr qgpamdgtaa eprpgagslq haqpppqprk krpedfkfgk
      121 ilgegsfstv vlarelatsr eyaikilekr hiikenkvpy vtrerdvmsr ldhpffvkly
      181 ftfqddekly fglsyaknge llkyirkigs fdetctrfyt aeivsaleyl hgkgiihrdl
      241 kpenillned mhiqitdfgt akvlspeskq aransfvgta qyvspellte ksackssdlw
      301 algciiyqlv aglppfragn eylifqkiik leydfpekff pkardlvekl lvldatkrlg
      361 ceemegygpl kahpffesvt wenlhqqtpp kltaylpams eddedcygny dnllsqfgcm
      421 qvsssssshs lsasdtglpq rsgsnieqyi hdldsnsfel dlqfsedekr lllekqaggn
      481 pwhqfvennl ilkmgpvdkr kglfarrrql lltegphlyy vdpvnkvlkg eipwsqelrp
      541 eaknfktffv htpnrtyylm dpsgnahkwc rkiqevwrqr yqshpdaavq
//
LOCUS       XP_024306659             271 aa            linear   PRI 20-MAR-2023
DEFINITION  galectin-9C isoform X8 [Homo sapiens].
ACCESSION   XP_024306659
VERSION     XP_024306659.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024450891.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..271
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..271
                     /product="galectin-9C isoform X8"
                     /calculated_mol_wt=29293
     Region          16..146
                     /region_name="GLECT"
                     /note="Galectin/galactose-binding lectin. This domain
                     exclusively binds beta-galactosides, such as lactose, and
                     does not require metal ions for activity. GLECT domains
                     occur as homodimers or tandemly repeated domains. They are
                     developmentally regulated and may...; cd00070"
                     /db_xref="CDD:238025"
     Site            order(17..21,141..146)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238025"
     Site            17..21
                     /site_type="active"
                     /note="dimerization swap strand [active]"
                     /db_xref="CDD:238025"
     Site            order(26..28,31,34,104..106,111,113,116)
                     /site_type="other"
                     /note="putative alternate dimerization interface
                     [polypeptide binding]"
                     /db_xref="CDD:238025"
     Site            order(61,63,65,73,75,82,85,87)
                     /site_type="other"
                     /note="sugar binding pocket [chemical binding]"
                     /db_xref="CDD:238025"
     Region          194..>221
                     /region_name="GLECT"
                     /note="Galectin/galactose-binding lectin. This domain
                     exclusively binds beta-galactosides, such as lactose, and
                     does not require metal ions for activity. GLECT domains
                     occur as homodimers or tandemly repeated domains. They are
                     developmentally regulated and may...; cl00071"
                     /db_xref="CDD:444680"
     CDS             1..271
                     /gene="LGALS9C"
                     /gene_synonym="Gal-9B; LGALS9B"
                     /coded_by="XM_024450891.2:67..882"
                     /db_xref="GeneID:654346"
                     /db_xref="HGNC:HGNC:33874"
ORIGIN      
        1 mafsgcqapy lspavpfsgt iqgglqdgfq itvngavlsc sgtrfavdfq tgfsgndiaf
       61 hfnprfedgg yvvcntrqkg twgpeerkmh mpfqkgmpfd lcflvqssdf kvmvngslfv
      121 qyfhrvpfhr vdtisvngsv qlsyisfqpp svrpanpapi tqtvihtvqs asgqmfstpa
      181 ippmmyphpa ypmpfittip gglypsksii lsgtvlpsaq rsttlgglrs evcpekcpss
      241 earasrcgsc vkltasrwpw mvstclntti a
//
LOCUS       XP_016882868            2851 aa            linear   PRI 20-MAR-2023
DEFINITION  fibrillin-3 isoform X8 [Homo sapiens].
ACCESSION   XP_016882868
VERSION     XP_016882868.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027379.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2851
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..2851
                     /product="fibrillin-3 isoform X8"
                     /calculated_mol_wt=304414
     Region          47..83
                     /region_name="Fibrillin_U_N"
                     /note="Fibrillin 1 unique N-terminal domain; pfam18193"
                     /db_xref="CDD:436338"
     Region          196..>228
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          289..329
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          344..388
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          491..521
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          531..572
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(531,534,549)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          614..654
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(614,617,631)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          669..712
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          724..760
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          766..798
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(766,769,784)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          862..>891
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          911..941
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(911,914,929)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          966..1008
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          1070..1104
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1070,1073,1088)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1113..1154
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1113,1116,1131)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1201..1236
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Site            order(1322,1325,1341)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1326..1361
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Site            order(1363,1366,1382)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1367..1402
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          1446..1486
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1446,1449,1463)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1487..1518
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1487,1490,1504)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1547..1588
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          1605..1641
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1605,1608,1623)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1701..1745
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          1763..1793
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(1763,1766,1781)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          <1803..1841
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Region          <1842..1884
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Region          1889..1923
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          1951..1974
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          2011..2051
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(2011,2014,2029)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          2066..2110
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          2126..2156
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(2126,2129,2144)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          2168..2207
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(2168,2171,2185)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          2208..2247
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          2249..2281
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Region          2405..2441
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          <2445..2485
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Region          2488..2517
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Region          2527..2561
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(2527,2530,2546)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          2570..2600
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(2570,2573,2586)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     CDS             1..2851
                     /gene="FBN3"
                     /coded_by="XM_017027379.2:141..8696"
                     /db_xref="GeneID:84467"
                     /db_xref="HGNC:HGNC:18794"
                     /db_xref="MIM:608529"
ORIGIN      
        1 mtleglylar gplarlllaw sallcmaggq grwdgaleaa gpgrvrrrgs pgilqgpnvc
       61 gsrfhayccp gwrtfpgrsq cvvpicrrac gegfcsqpnl ctcadgtlap scgvsrgsgc
      121 svscmnggtc rgasclcqkg ytgtvcgqpi cdrgchnggr cigpnrcacv ygfmgpqcer
      181 dyrtgpcfgq vgpegcqhql tglvctkalc catvgrawgl pcelcpaqph pcrrgfipni
      241 htgacqdvde cqavpglcqg gscvnmvgsf hcrcpvghrl sdssaacedv neclslsglc
      301 sggdctntvg syvctcsqgf assldgthcl nyragacfsv lfggrcagdl aghytrrqcc
      361 cdrgrcwaag pvpelcpprg snefqqlcaq rlpllpghpg lfpgllgfgs ngmgpplgpa
      421 rlnphgsdar gipslgpgns nigtatlnqt idicrhftnl clngrclptp ssyrcecnvg
      481 ytqdvrgeci dvdectsspc hhgdcvnipg tyhcrcypgf qatptrqacv dvdecivsgg
      541 lchlgrcvnt egsfqcvcna gfelspdgkn cvdhnecats tmcvngvcln edgsfsclck
      601 pgfllapggh ycmdidecqt pgicvnghct ntegsfrcqc lgglavgtdg rvcvdthvrs
      661 tcygaiekgs carpfpgtvt ksecccanpd hgfgepcqlc pakdsaefqa lcssglgitt
      721 dgrdinecal dpevcangvc enlrgsyrcv cnlgyeagas gkdctdvdec alnsllcdng
      781 wcqnspgsys cscppgfhfw qdteickdvd eclsspcvsg vcrnlagsyt ckcgpgsrld
      841 psgtfcldst kgtcwlkiqe srcevnlqga slrseccatl gaawgspcer ceidpacarg
      901 farmtgvtcd dvnecesfpg vcpngrcvnt agsfrcecpe glmldasgrl cvdvrlepcf
      961 lrwdedecgv tlpgkyrmdv cccsigavwg veceacpdpe slefaslcpr glgfasrdfl
     1021 sgrpfykdvn eckvfpglct hgtcrntvgs fhcacaggfa ldaqernctd idecrispdl
     1081 cgqgtcvntp gsfececfpg yesgfmlmkn cmdvdecard pllcrggtct ntdgsykcqc
     1141 ppgheltakg tacedidecs lsdglcphgq cvnvigafqc schagfqstp drqgcvdine
     1201 crvqnggcdv hcintegsyr cscgqgyslm pdgracadvd eceenprvcd qghctnmpgg
     1261 hrclcydgfm atpdmrtcvd vdecdlnphi clhgdcentk gsfvchcqlg ymvrkgatgc
     1321 sdvdecevgg hncdshascl nipgsfscrc lpgwvgdgfe chdldecvsq ehrcsprgdc
     1381 lnvpgsyrct crqgfagdgf fcedrdecae nvdlcdngqc lnapggyrce cemgfdpted
     1441 hracqdvdec aqgnlcafgs cenlpgmfrc icnggyeldr gggnctdine cadpvncing
     1501 vcintpgsyl cscpqdfeln psgvgcvdtr agncflethd rgdsgiscsa eigvgvtras
     1561 cccslgrawg npcelcpman tteyrtlcpg gegfqpnrit viledidecq elpglcqggd
     1621 cvntfgsfqc ecppgyhlse htricedide csthsgicgp gtcyntlgny tcvcpaeylq
     1681 vnggnncmdm rksvcfrhyn gtcqnelafn vtrkmcccsy nigqawnrpc eacptpispd
     1741 yqilcgnqap gfltdihtgk pldidecgei paicangici nqigsfrcec pagfnynsil
     1801 lacedvdecg srespcqqna dcinipgsyr ckctrgykls pggacvgrne creipnvcsh
     1861 gdcmdtegsy mclchrgfqa sadqtlcmdi decdrqpcgn gtckniigsy nclcfpgfvv
     1921 thngdcvdfd ecttlvgqvc rfghclntag sfhclcqdgf eltadgkncv dtneclslag
     1981 tclpgtcqnl egsfrcicpp gfqvqsdhci didecseepn lclfgtctns pgsfqclcpp
     2041 gfvlsdnghr cfdtrqsfcf trfeagkcsv pkafnttktr cccskrpgeg wgdpcelcpq
     2101 egsaafqelc pfghgavpgp ddsredvnec aenpgvctng vcvntdgsfr cecpfgysld
     2161 ftgincvdtd ecsvghpcgq gtctnviggf ecacadgfep glmmtcedid ecslnpllca
     2221 frchntegsy lctcpagytl redgamcrdv decadgqqdc hargmecknl igtfacvcpp
     2281 gmrplpgsge gctddnecha qpdlcvngrc vntagsfrcd cdegfqpspt ltechdirqg
     2341 pcfaevlqtm crslssssea vtraecccgg grgwgprcel cplpgtsayr klcphgsgyt
     2401 aegrdvdecr mlahlcahge cinslgsfrc hcqagytpda tattcldmde csqvpkpctf
     2461 lckntkgsfl cscprgylle edgrtckdld ectsrqhncq flcvntvgaf tcrcppgftq
     2521 hhqacfdnde csaqpgpcga hghchntpgs frcechqgft lvssghgced vnecdgphrc
     2581 qhgcqnqlgg yrcscpqgft qhsqwaqcvd enecalsppt cgsascrntl ggfrcvcpsg
     2641 fdfdqalggc qevdecagrr gpcsyscant pggflcgcpq gyfragqghc vsglgfspgp
     2701 qdtpdkeell sseacyecki nglsprdrpr rsahrdhqvn latldseall tlglnlshlg
     2761 raerilelrp aleglegrir yvivrgneqg ffrmhhlrgv sslqlgrrrp gpgtyrlevv
     2821 shmagpwgvq pegqpgpwgq alrlkvqlql l
//
LOCUS       XP_047297019             343 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124905050 [Homo sapiens].
ACCESSION   XP_047297019
VERSION     XP_047297019.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441063.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 15% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..343
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..343
                     /product="uncharacterized protein LOC124905050"
                     /calculated_mol_wt=37930
     CDS             1..343
                     /gene="LOC124905050"
                     /coded_by="XM_047441063.1:1..1032"
                     /db_xref="GeneID:124905050"
ORIGIN      
        1 mtptswvgdn yidqeatvsi sllareqrkf qwagskgqiv dpderrages wepavrtqsc
       61 gvpkrrafsp rgtaarqeap walwlssrsa ggreklvtrs pnpasvkasr gwrmgreetg
      121 crdggeeakg trwlgdarea eklwlvdgva rsarpertgv qrgktcgrnf pprarkagkk
      181 eagrdlkrln nfnqntrsgd ersrcsrrsq lptgddggqe etaaegtqtr rftsspqaap
      241 lhfcfnfygf fpslsslppg psrakethki rkevgpgawn lhsrlvqrsa gaggcahqlp
      301 arcavpfltf letaivpafg gflvfvfflf pyllnlhypt fff
//
LOCUS       XP_011528694             343 aa            linear   PRI 20-MAR-2023
DEFINITION  apolipoprotein L6 isoform X1 [Homo sapiens].
ACCESSION   XP_011528694
VERSION     XP_011528694.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011530392.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..343
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..343
                     /product="apolipoprotein L6 isoform X1"
                     /calculated_mol_wt=37997
     Region          2..287
                     /region_name="ApoL"
                     /note="Apolipoprotein L; pfam05461"
                     /db_xref="CDD:428480"
     CDS             1..343
                     /gene="APOL6"
                     /gene_synonym="APOL-VI; APOLVI"
                     /coded_by="XM_011530392.4:343..1374"
                     /db_xref="GeneID:80830"
                     /db_xref="HGNC:HGNC:14870"
                     /db_xref="MIM:607256"
ORIGIN      
        1 mdnqaerese agvglqrded daplcedvel qdgdlspeek iflrefprlk edlkgnidkl
       61 raladdidkt hkkftkanmv atstavisgv msllglalap atgggsllls tagqglataa
      121 gvtsivsgtl ersknkeaqa raedilptyd qedredeeek adyvtaagki iynlrntlky
      181 akknvrafwk lranprlana tkrllttgqv ssrsrvqvqk afagttlamt knarvlggvm
      241 safslgydla tlskewkhlk egartkfaee lrakaleler klteltqlyk slqqkvrsra
      301 rgvgkdltgt ceteaywkel rehvwmwlwl cvclcvcvyv qft
//
LOCUS       XP_047272393             846 aa            linear   PRI 20-MAR-2023
DEFINITION  circadian locomoter output cycles protein kaput isoform X1 [Homo
            sapiens].
ACCESSION   XP_047272393
VERSION     XP_047272393.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416437.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..846
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..846
                     /product="circadian locomoter output cycles protein kaput
                     isoform X1"
                     /calculated_mol_wt=95173
     Region          29..89
                     /region_name="bHLH-PAS_CLOCK"
                     /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS)
                     domain found in Circadian locomotor output cycles protein
                     kaput (CLOCK) and similar proteins; cd19734"
                     /db_xref="CDD:381577"
     Site            order(36,39..40,43..44,46..47,51,69..70)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381577"
     Site            order(49..50,53..54,56..57,60..61,70..71,74..75,78,81..82,
                     84)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:381577"
     Region          109..>175
                     /region_name="PAS"
                     /note="PAS fold; pfam00989"
                     /db_xref="CDD:395786"
     Region          274..377
                     /region_name="PAS_11"
                     /note="PAS domain; pfam14598"
                     /db_xref="CDD:434060"
     Region          550..>694
                     /region_name="SP1-4_N"
                     /note="N-terminal domain of transcription factor
                     Specificity Proteins (SP) 1-4; cl41773"
                     /db_xref="CDD:425404"
     CDS             1..846
                     /gene="CLOCK"
                     /gene_synonym="bHLHe8; KAT13D"
                     /coded_by="XM_047416437.1:3079..5619"
                     /db_xref="GeneID:9575"
                     /db_xref="HGNC:HGNC:2082"
                     /db_xref="MIM:601851"
ORIGIN      
        1 mlftvscskm ssivdrddss ifdglveedd kdkakrvsrn ksekkrrdqf nvlikelgsm
       61 lpgnarkmdk stvlqksidf lrkhkeitaq sdaseirqdw kptflsneef tqlmlealdg
      121 fflaimtdgs iiyvsesvts llehlpsdlv dqsifnfipe gehsevykil sthllesdsl
      181 tpeylksknq lefcchmlrg tidpkepsty eyvkfignfk slnsvsssah ngfegtiqrt
      241 hrpsyedrvc fvatvrlatp qfikemctve epneeftsrh slewkflfld hrappiigyl
      301 pfevlgtsgy dyyhvddlen lakchehlmq ygkgkscyyr fltkgqqwiw lqthyyityh
      361 qwnsrpefiv cthtvvsyae vraerrrelg ieeslpetaa dksqdsgsdn rintvslkea
      421 lerfdhsptp sassrssrks shtavsdpss tptkiptdts tpprqhlpah ekmvqrrssf
      481 ssqsinsqsv gssltqpvms qatnlpipqg msqfqfsaql gamqhlkdql eqrtrmiean
      541 ihrqqeelrk iqeqlqmvhg qglqmflqqs npglnfgsvq lssgnssniq qlapinmqgq
      601 vvptnqiqsg mntghigttq hmiqqqtlqs tstqsqqnvl sghsqqtslp sqtqstltap
      661 lyntmvisqp aagsmvqips smpqnstqsa avttftqdrq irfsqgqqlv tklvtapvac
      721 gavmvpstml mgqvvtaypt fatqqqqsqt lsvtqqqqqq ssqeqqltsv qqpsqaqltq
      781 ppqqflqtsr llhgnpstql ilsaafplqq stfpqshhqq hqsqqqqqls rhrtdslpdp
      841 skvqpq
//
LOCUS       XP_011512926             388 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase MAK isoform X4 [Homo sapiens].
ACCESSION   XP_011512926
VERSION     XP_011512926.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514624.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..388
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..388
                     /product="serine/threonine-protein kinase MAK isoform X4"
                     /calculated_mol_wt=43028
     Region          <1..24
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..388
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /coded_by="XM_011514624.3:105..1271"
                     /db_xref="GeneID:4117"
                     /db_xref="HGNC:HGNC:6816"
                     /db_xref="MIM:154235"
ORIGIN      
        1 mtemlnwdpk krptasqalk hpyfqvgqvl gpssnhlesk qslnkqlqpl eskpslveve
       61 pkplpdiidq vvgqpqpkts qqplqpiqpp qnlsvqqppk qqsqekppqt lfpsivknmp
      121 tkpngtlshk sgrrrwgqti fksgdsweel edydfgashs kkpsmgvfke krkkdspfrl
      181 pepvpsgsnh stgenkslpa vtslksdsel staptskqyy lkqsrylpgv npkkvslias
      241 gkeinphtws nqlfpkslgp vgaelafkrs naeesiikpi eklscnetfp ekledpqgnl
      301 gsyatynqsg yipsflkkev qsagqrihla plnataseyt wntktgrgqf sgrtynptak
      361 nlnivnraqp ipsvhgrtdw vakygghr
//
LOCUS       XP_024302432             604 aa            linear   PRI 20-MAR-2023
DEFINITION  scavenger receptor cysteine-rich domain-containing group B protein
            isoform X1 [Homo sapiens].
ACCESSION   XP_024302432
VERSION     XP_024302432.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024446664.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..604
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..604
                     /product="scavenger receptor cysteine-rich
                     domain-containing group B protein isoform X1"
                     /calculated_mol_wt=63726
     Region          87..186
                     /region_name="SR"
                     /note="Scavenger receptor Cys-rich; smart00202"
                     /db_xref="CDD:214555"
     Region          218..317
                     /region_name="SR"
                     /note="Scavenger receptor Cys-rich; smart00202"
                     /db_xref="CDD:214555"
     Region          373..472
                     /region_name="SR"
                     /note="Scavenger receptor Cys-rich; smart00202"
                     /db_xref="CDD:214555"
     Region          502..602
                     /region_name="SR"
                     /note="Scavenger receptor Cys-rich; smart00202"
                     /db_xref="CDD:214555"
     CDS             1..604
                     /gene="SSC4D"
                     /gene_synonym="S4D-SRCRB; SRCRB-S4D; SRCRB4D"
                     /coded_by="XM_024446664.2:351..2165"
                     /db_xref="GeneID:136853"
                     /db_xref="HGNC:HGNC:14461"
                     /db_xref="MIM:607639"
ORIGIN      
        1 mhkeaemlig pqldekrwgw rlgdgsaapp flpqalsfll llplascsel hdeeecgclg
       61 slsalplicy valtsalqpt plpfqelrlv ggpsrcrgrl evmhggswgs vcdddwdvvd
      121 anvvcrqlgc glalpvprpl afgqgrgpil ldnvecrgqe aalsecgsrg wgvhncfhye
      181 dvavlcdefl ptqpptrkml tsrappttlp ngksegsvrl vgganlcqgr veilhsglwg
      241 tvcdddwglp daavvcrqlg cgaamaattn affgygtghi lldnvhcegg eprlaacqsl
      301 gwgvhncghh edagalcagl gpptltalps satredwawq tdpsatgvgp qpsretallt
      361 taawaagkks grlrlvggpg pcrgrvevlh aggwgtvcdd dwdfadarva creagcgpal
      421 gatglghfgy grgpvlldnv gcagtearls dcfhlgwgqh ncghhedaga lcagpeelgl
      481 qvqqdgsett rvptprprdg hlrlvngahr cegrvelylg qrwgtvcdda wdlraagvlc
      541 rqlgcgqala apgeahfgpg rgpilldnvk crgeesalll cshirwdahn cdhsedasvl
      601 cqps
//
LOCUS       XP_016868124             812 aa            linear   PRI 20-MAR-2023
DEFINITION  cilia- and flagella-associated protein 69 isoform X11 [Homo
            sapiens].
ACCESSION   XP_016868124
VERSION     XP_016868124.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017012635.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..812
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..812
                     /product="cilia- and flagella-associated protein 69
                     isoform X11"
                     /calculated_mol_wt=91598
     CDS             1..812
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /coded_by="XM_017012635.3:83..2521"
                     /db_xref="GeneID:79846"
                     /db_xref="HGNC:HGNC:26107"
                     /db_xref="MIM:617949"
ORIGIN      
        1 mkipsselri qickcivdfy haeppkkhip gyqqasssyk iqmaevggla ktmvqsmtll
       61 enqlveklwv lkvlqhlsts evnctimmka qaasgicthl ndpdpsgqll frsseilwnl
      121 leksskeevi qqlsnlecll alkevfknlf mrgfshydrq lrndilvitt iiaqnpeapm
      181 iecgftkdli lfatfnevks qnllvkglkl snsyedfelk kllfnvivil ckdlptvqll
      241 idgkvilalf tyvkkpekqk iidwsaaqhe elqlhaiatl ssvaplliee ymscqgnarv
      301 laflewcese dpffshgnsf hgtggrgnkf aqmryslrll ravvyledet vnkdlcekgt
      361 iqqmigifkn iiskpnekee aivleiqsdi llilsglcen hiqrkeifgt egvdivlhvm
      421 ktdprklqsg lgynvllfst ldsiwccilg cypsedyfle kegifllldl lalnqkkfcn
      481 lilgimvefc dnpktaahvn awqgkkdqta aslliklwrk eekelgvkrd kngkiidtkk
      541 plftsfqeeq kiiplpancp siavmdvsen irakiyailg kldfenlpgl saedfvtlci
      601 ihryldfkig eiwneiyeei kleklrpvtt dkkaleaitt asenigkmva slqsdiiesq
      661 acqdmqneqk vyakiqathk qrelankswe dflartsnak tlkkakslqe kaieasryhk
      721 rpqnaifhqt hikglnttvp sggvvtvest parlvggplv dtdialkklp irggalqrvk
      781 avkivdapkk siptswlekm nvdihevark qr
//
LOCUS       XP_047278781             518 aa            linear   PRI 20-MAR-2023
DEFINITION  tubulin polyglutamylase TTLL11 isoform X2 [Homo sapiens].
ACCESSION   XP_047278781
VERSION     XP_047278781.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422825.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..518
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..518
                     /product="tubulin polyglutamylase TTLL11 isoform X2"
                     /calculated_mol_wt=57404
     Region          181..>254
                     /region_name="CPSase_L_D2"
                     /note="Carbamoyl-phosphate synthase L chain, ATP binding
                     domain; cl17255"
                     /db_xref="CDD:450176"
     Region          <225..290
                     /region_name="CPSase_L_D2"
                     /note="Carbamoyl-phosphate synthase L chain, ATP binding
                     domain; cl17255"
                     /db_xref="CDD:450176"
     CDS             1..518
                     /gene="TTLL11"
                     /gene_synonym="bA244O19.1; C9orf148; C9orf20; TTLL11-IT1"
                     /coded_by="XM_047422825.1:161..1717"
                     /db_xref="GeneID:158135"
                     /db_xref="HGNC:HGNC:18113"
ORIGIN      
        1 mrrgssesel aarweaeava aakaaakaea eataetvaeq vrvdagaage peckageeqp
       61 kvlapapaqp saaeegntqv lqrppptlpp skpkpvqglc phgkprdkgr sckrssghgs
      121 gengsqrpvt vdsskartsl dalkisirql kwkefpfgrr lpcdiywhgv sfhdndifsg
      181 qvnkfpgmte mvrkitlsra vrtmqnlfpe eynfyprswi lpdefqlfva qilgfdillm
      241 knlkpillev nanpsmrieh ehelspgvfe nvpslvdeev kvavirdtlr lmdplkkkre
      301 nqsqqlekpf agkedaldge ltsapdcnan peahlpsicl kqvfpkyakq fnylrlvdrm
      361 anlfirflgi kgtmklgptg frtfirsckl sssslsmaav dilyiditrr wnsmtldqrd
      421 sgmclqafve affflaqrkf kmlplheqva slidlceyhl slldekrlvc grgvpsggrp
      481 phrgppqeps psaqpagdnp pprtscankl shprhtls
//
LOCUS       XP_024303203             699 aa            linear   PRI 20-MAR-2023
DEFINITION  extracellular matrix protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_024303203
VERSION     XP_024303203.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024447435.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..699
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..699
                     /product="extracellular matrix protein 2 isoform X1"
                     /calculated_mol_wt=79659
     Region          103..157
                     /region_name="VWC"
                     /note="von Willebrand factor type C domain; pfam00093"
                     /db_xref="CDD:278520"
     Region          <116..>211
                     /region_name="Amnionless"
                     /note="pfam14828"
                     /db_xref="CDD:434248"
     Region          <320..>572
                     /region_name="PRK15370"
                     /note="type III secretion system effector E3 ubiquitin
                     transferase SlrP"
                     /db_xref="CDD:185268"
     Region          321..344
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          345..368
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          369..394
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          395..415
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          416..439
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          440..465
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          466..486
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          487..510
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          491..>673
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:227223"
     Region          511..536
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          583..606
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          610..632
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          633..653
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          662..687
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..699
                     /gene="ECM2"
                     /coded_by="XM_024447435.2:182..2281"
                     /db_xref="GeneID:1842"
                     /db_xref="HGNC:HGNC:3154"
                     /db_xref="MIM:603479"
ORIGIN      
        1 mkiavlfcff lliifqtdfg kneeiprkqr rkiyhrrlrk sstshkhrsn rqlgiqqttv
       61 ftpvarlpiv nfdysmeekf esfssfpgve ssynvlpgkk ghclvkgitm ynkavwspep
      121 cttclcsdgr vlcdetmchp qrcpqtvipe geccpvcsat vsysllsgia lndrnefsgd
      181 sseqreptnl lhkqlpppqv gmdrivrkea lqseedeevk eedteqkret pesrnqgqly
      241 segdsrggdr kqrpgeerrl ahqqqrqgre eeedeeeege egeedeedee dpvrgdmfrm
      301 psrsplpapp rgtlrlpsgc slsyrtisci namltqippl tapqitslel tgnsiasipd
      361 eafnglpnle rldlsknnit ssgigpkafk llkklmrlnm dgnnliqips qlpstleelk
      421 vnennlqaid eeslsdlnql vtlelegnnl seanvnplaf kplkslaylr lgknkfriip
      481 qglpgsieel ylennqieei teicfnhtrk invivlrynk ieenriapla winqenlesi
      541 dlsynklyhv psylpksllh lvllgnqier ipgyvfghme pgleylylsf nkladdgmdr
      601 vsfygayhsl relfldhndl ksippgiqem kalhflrlnn nkirnilpee icnaeeddds
      661 nlehlhlenn yikireipsy tfscirsyss ivlkpqnik
//
LOCUS       XP_016884884             713 aa            linear   PRI 20-MAR-2023
DEFINITION  MAP7 domain-containing protein 2 isoform X11 [Homo sapiens].
ACCESSION   XP_016884884
VERSION     XP_016884884.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029395.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..713
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..713
                     /product="MAP7 domain-containing protein 2 isoform X11"
                     /calculated_mol_wt=79605
     Region          <9..>102
                     /region_name="DUF5401"
                     /note="Family of unknown function (DUF5401); pfam17380"
                     /db_xref="CDD:375164"
     Region          <123..336
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          370..536
                     /region_name="MAP7"
                     /note="MAP7 (E-MAP-115) family; pfam05672"
                     /db_xref="CDD:428577"
     CDS             1..713
                     /gene="MAP7D2"
                     /coded_by="XM_017029395.3:113..2254"
                     /db_xref="GeneID:256714"
                     /db_xref="HGNC:HGNC:25899"
ORIGIN      
        1 megflksder qrlakerree rekclaareq qilekqkrar lqyekqmeer wrkleeqrqr
       61 edqkraavee krkqklreee erleammrrs lertqqlelk kkyswgapla igpgghdges
      121 entpppplgl aastlppdag ttaaaaestn acdklststm slpkpteppm nkrlssstva
      181 isyspdrapl gplnpsykss ptrniekkka tststsgagd vgkealsgge aslvekvkrg
      241 qrtatslpvv nfgsplrrce fsggipkrps spvisktatk aypqspkttk ppypgspvky
      301 rlpalsgqdm pkrkaekeks nkeregtlaq qaagpqgeea lekhvvdkha sekhaaaagg
      361 kaensaalgk ptagttdage aakilaekrr qarlqkeqee qerlekeeqd rlereelkrk
      421 aeeerlrlee earkqeeerk rqeeekkkqe geekrkagee akrkaeeell lkekqeqekq
      481 ekamiekqke aaetkareva eqmrlereqi mlqieqerle rkkrideimk rtrksdvspq
      541 vkkedpkvgv qpavcvekkt klvvpnkmei nglntcqevn gvdhaapety pqdifsnglk
      601 pagglihlda ldgksnsldd steevqsmdv spvskeelis ipefspvsem ipgvsldqng
      661 tgnaralqdl ldftgpptfp krssenlsld dcnknliegf nspgqetpln tfc
//
LOCUS       XP_016885138             927 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-expressed protein 11 isoform X1 [Homo sapiens].
ACCESSION   XP_016885138
VERSION     XP_016885138.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029649.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..927
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..927
                     /product="testis-expressed protein 11 isoform X1"
                     /calculated_mol_wt=106564
     Region          175..429
                     /region_name="SPO22"
                     /note="Meiosis protein SPO22/ZIP4 like; pfam08631"
                     /db_xref="CDD:430117"
     Region          402..436
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(403,406..407,410..411,413,443,446..447,450..451,
                     453..454,477,480..481,484..485,488)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          441..471
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..927
                     /gene="TEX11"
                     /gene_synonym="MZIP4; SPGFX2; Spo22; TGC1; TSGA3; ZIP4;
                     ZIP4H"
                     /coded_by="XM_017029649.1:80..2863"
                     /db_xref="GeneID:56159"
                     /db_xref="HGNC:HGNC:11733"
                     /db_xref="MIM:300311"
ORIGIN      
        1 mdnddffsmd fkevvenlvt ndnspnipea idrlfsdian inresmaeit diqieemavn
       61 lwnwaltigg gwlvneeqki rlhyvackll smceasfase qsiqrlimmn mrigkewlda
      121 gnfliadecf qaavasleql yvkliqrssp eadltmekit vesdhfrvls yqaesavaqg
      181 dfqrasmcvl qckdmlmrlp qmtsslhhlc ynfgvetqkn nkyeessfwl sqsydigkmd
      241 kkstgpemla kvlrllatny ldwddtkyyd kalnavnlan kehlsspglf lkmkillkge
      301 tsneelleav meilhldmpl dfclniakll mdheresvgf hfltiiherf kssenigkvl
      361 ilhtdmllqr keellakeki eeiflahqtg rqltaesmnw lhnilwrqaa ssfevqnytd
      421 alqwyyyslr fystdemdld ftklqrnmac cylnlqqldk akeavaeaer hdprnvftqf
      481 yifkiavieg nseralqaii tleniltdee sedndlvaer gsptmllsla aqfalengqq
      541 ivaekaleyl aqhsedqeqv ltavkcllrf llpkiaempe sedkkkemdr lltclnrafv
      601 klsqpfgeea lslesranea qwfrktawnl avqcdkdpvm mreffilsyk msqfcpsdqv
      661 iliarktcll mavavdleqg rkastafeqt mflsraleei qtcndihnfl kqtgtfsnds
      721 cekllllyef evraklndpl lesflesvwe lphletktfe tiaiiamekp ahyplialka
      781 lkkalllykk eepidisqys kcmhnlvnls vpdgasnvel cpleevwgyf edalshisrt
      841 kdypemeilw lmvkswntgv lmfsrskyas aekwcglalr flnhltsfke syetqmplgd
      901 asedrsqayl cppgffsfeg lthgenn
//
LOCUS       XP_054189633             771 aa            linear   PRI 20-MAR-2023
DEFINITION  CCR4-NOT transcription complex subunit 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054189633
VERSION     XP_054189633.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333658.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187693.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..771
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..771
                     /product="CCR4-NOT transcription complex subunit 3 isoform
                     X1"
                     /calculated_mol_wt=83683
     CDS             1..771
                     /gene="CNOT3"
                     /gene_synonym="IDDSADF; LENG2; NOT3; NOT3H"
                     /coded_by="XM_054333658.1:766..3081"
                     /db_xref="GeneID:4849"
                     /db_xref="HGNC:HGNC:7879"
                     /db_xref="MIM:604910"
ORIGIN      
        1 madkrklqge idrclkkvse gveqfediwq klhnaananq kekyeadlkk eikklqrlrd
       61 qiktwvasne ikdkrqlidn rklietqmer fkvveretkt kayskeglgl aqkvdpaqke
      121 keevgqwltn tidtlnmqvd qfesevesls vqtrkkkgdk dqkqdriegl krhiekhryh
      181 vrmletilrm ldndsilvda irkikddvey yvdssqdpdf eeneflyddl dledipqalv
      241 atsppshshm edeifnqsss tptsttsssp ippspanctt enseddkkrg rstdsevsqs
      301 pakngskpvh snqhpqspav pptypsgppp aasalsttpg nngvpapaap psalgpkasp
      361 apshnsgtpa pyaqavappa psgpsttqpr ppsvqpsggg gggsggggss sssnssaggg
      421 agkqngatsy ssvvadspae valsssggnn assqalgpps gphnpppsts kepsaaaptg
      481 aggvapgsgn nsggpsllvp lpvnppsspt psfsdakaag allngppqfs tapeikapep
      541 lsslksmaer aaissgiedp vptlhlterd iilsstsapp asaqpplqls evniplslgv
      601 cplgpvpltk eqlyqqamee aawhhmphps dserirqylp rnpcptppyh hqmppphsdt
      661 vefyqrlste tlffifyyle gtkaqylaak alkkqswrfh tkymmwfqrh eepktitdef
      721 eqipdhllvh sltafspgqg tyiyfdyekw gqrkkegftf eyryledrdl q
//
LOCUS       XP_054189947             642 aa            linear   PRI 20-MAR-2023
DEFINITION  FAS-associated factor 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054189947
VERSION     XP_054189947.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054333972.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..642
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..642
                     /product="FAS-associated factor 1 isoform X1"
                     /calculated_mol_wt=72749
     CDS             1..642
                     /gene="FAF1"
                     /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A"
                     /coded_by="XM_054333972.1:16..1944"
                     /db_xref="GeneID:11124"
                     /db_xref="HGNC:HGNC:3578"
                     /db_xref="MIM:604460"
ORIGIN      
        1 mgapvfsact gienideait lleqnnwdlv aaingvipqe ngilqseygg etipgpafnp
       61 ashpasapts ssssafrpvm psrqiverqp rmldfrveyr drnvdvvled tctvgeikqi
      121 lenelqipvs kmllkgwktg dvedstvlks lhlpknnsly vltpdlppss ssshagalqe
      181 slnqnfmlii threvqreyn lnfsgsstiq evkrnvydlt sipvrhqlwe gwptsatdds
      241 mclaesglsy pchrltvgrr sspaqtreqs eeqitdvhmv sdsdgddfed atefgvddge
      301 vfgmassalr kspmmpenae negdallqft aefssrygdc hpvffigsle aafqeafyvk
      361 ardrkllaiy lhhdesvltn vfcsqmlcae sivsylsqnf itwawdltkd snrarfltmc
      421 nrhfgsvvaq tirtqktdqf plfliimgkr ssnevlnviq gnttvdelmm rlmaameift
      481 aqqqedikde derearenvk reqdeayrls leadrakrea heremaeqfr leqirkeqee
      541 ereairlsle qalppepkee naepvsklri rtpsgefler rflasnklqi vfdfvaskgf
      601 pwdeykllst fprrdvtqld pnksllevkl fpqetlflea ke
//
LOCUS       XP_054192223             266 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 45 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054192223
VERSION     XP_054192223.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336248.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..266
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..266
                     /product="ankyrin repeat domain-containing protein 45
                     isoform X2"
                     /calculated_mol_wt=29846
     CDS             1..266
                     /gene="ANKRD45"
                     /gene_synonym="CT117"
                     /coded_by="XM_054336248.1:717..1517"
                     /db_xref="GeneID:339416"
                     /db_xref="HGNC:HGNC:24786"
                     /db_xref="MIM:618712"
ORIGIN      
        1 mesegppese sseffsqqee eneeeeaqep eetgpknpll qpaltgdveg lqkifedpen
       61 phheqamqll leedivgrnl lyaacmagqs dviralakyg vnlnekttrg ytllhcaaaw
      121 grletlkalv eldvdiealn freerardva arysqtecve fldwadarlt lkkyiakvsl
      181 avtdtekgsg kllkedknti lsacraknew lethteasin elfeqrqqle divtpiftkm
      241 ttpcqvksak svtshdqkrs qddtsn
//
LOCUS       XP_054193017            1044 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit
            delta isoform isoform X1 [Homo sapiens].
ACCESSION   XP_054193017
VERSION     XP_054193017.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337042.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1044
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1044
                     /product="phosphatidylinositol 4,5-bisphosphate 3-kinase
                     catalytic subunit delta isoform isoform X1"
                     /calculated_mol_wt=119365
     CDS             1..1044
                     /gene="PIK3CD"
                     /gene_synonym="APDS; IMD14; IMD14A; IMD14B; p110D;
                     P110DELTA; PI3K; ROCHIS"
                     /coded_by="XM_054337042.1:299..3433"
                     /db_xref="GeneID:5293"
                     /db_xref="HGNC:HGNC:8977"
                     /db_xref="MIM:602839"
ORIGIN      
        1 mppgvdcpme fwtkeenqsv vvdfllptgv ylnfpvsrna nlstikqllw hraqyeplfh
       61 mlsgpeayvf tcinqtaeqq eledeqrrlc dvqpflpvlr lvaregdrvk klinsqisll
      121 igkglhefds lcdpevndfr akmcqfceea aarrqqlgwe awlqysfplq lepsaqtwgp
      181 gtlrlpnral lvnvkfegse esftfqvstk dvplalmaca lrkkatvfrq plveqpedyt
      241 lqvngrheyl ygsyplcqfq yicsclhsgl tphltmvhss silamrdeqs npapqvqkpr
      301 akpppipakk pcsvslwsle qpfrieliqg skvnadermk lvvqaglfhg nemlcktvss
      361 sevsvcsepv wkqrlefdin icdlprmarl cfalyaviek akkarstkkk skkadcpiaw
      421 anlmlfdykd qlktgercly mwpsvpdekg ellnptgtvr snpntdsaaa lliclpevap
      481 hpvyypalek ilelgrhsec vhvteeeqlq lreilerrgs gelyehekdl vwklrhevqe
      541 hfpealarll lvtkwnkhed vaqmlyllcs wpelpvlsal elldfsfpdc hvgsfaiksl
      601 rkltddelfq yllqlvqvlk yesyldcelt kflldralan rkighflfwh lrsemhvpsv
      661 alrfglilea ycrgsthhmk vlmkqgeals klkalndfvk lssqktpkpq tkelmhlcmr
      721 qeaylealsh lqspldpstl laevcveqct fmdskmkplw imysneeags ggsvgiifkn
      781 gddlrqdmlt lqmiqlmdvl wkqegldlrm tpygclptgd rtglievvlr sdtianiqln
      841 ksnmaataaf nkdallnwlk sknpgealdr aieeftlsca gycvatyvlg igdrhsdnim
      901 iresgqlfhi dfghflgnfk tkfginrerv pfiltydfvh viqqgktnns ekferfrgyc
      961 eraytilrrh gllflhlfal mraaglpels cskdiqylkd slalgkteee alkhfrvkfn
     1021 ealreswktk vnwlahnvsk dnrq
//
LOCUS       XP_054221300             773 aa            linear   PRI 20-MAR-2023
DEFINITION  la-related protein 4B isoform X4 [Homo sapiens].
ACCESSION   XP_054221300
VERSION     XP_054221300.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365325.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..773
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..773
                     /product="la-related protein 4B isoform X4"
                     /calculated_mol_wt=84254
     CDS             1..773
                     /gene="LARP4B"
                     /gene_synonym="KIAA0217; LARP5"
                     /coded_by="XM_054365325.1:121..2442"
                     /db_xref="GeneID:23185"
                     /db_xref="HGNC:HGNC:28987"
                     /db_xref="MIM:616513"
ORIGIN      
        1 mtsdqdakvv aepqtqrvqe gkdsahlmng pisqttsqts sipplsqvpa tkvselnpna
       61 evwgapvlhl eassaadgvs aaweevaghh adrgpqgsda ngdgdqghen aalpdpqesd
      121 padmnalalg pseydslpen setggnesqp dsqedprevl kktlefclsr enlasdmyli
      181 sqmdsdqyvp ittvanldhi kklstdvdli vevlrslplv qvdekgekvr pnqnrcivil
      241 reisestpve evealfkgdn lpkfincefa yndnwfitfe teadaqqayk ylreevktfq
      301 gkpikarika kaiaintflp kngfrpldvs lyaqqryats fyfppmyspq qqfplyslit
      361 pqtwsathsy ldpplvtpfp ntgfingfts pafkpaaspl tslrqypprs rnpskshlrh
      421 aipsaergpg llespsifnf tadrlingvr spqtrqagqt rtriqnpsay akreagpgrv
      481 epgslesspg lgrgrknsfg yrkkreekft ssqtqsptpp kppspsfelg lssfpplpga
      541 agnlktedlf enrlssliig pskertlsad asvntlpvav srepsvpasc avsatyersp
      601 spahlpddpk vaekqreths vdrlpsalta tacksvqvng aatvrtsclp scttaarlwc
      661 eqtlrtpapa rflitsnlel rkpsyaeicq rtskeppssp lqpqkeqkpn tvgcgkeekk
      721 laepaeryre ppalkstpga prdqrrpagg rpspsamgkr lsreqstppk spq
//
LOCUS       XP_054228682             369 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-dependent RNA helicase DDX55 isoform X14 [Homo sapiens].
ACCESSION   XP_054228682
VERSION     XP_054228682.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372707.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..369
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..369
                     /product="ATP-dependent RNA helicase DDX55 isoform X14"
                     /calculated_mol_wt=41495
     CDS             1..369
                     /gene="DDX55"
                     /coded_by="XM_054372707.1:51..1160"
                     /db_xref="GeneID:57696"
                     /db_xref="HGNC:HGNC:20085"
                     /db_xref="MIM:620176"
ORIGIN      
        1 mehvtegswe slpvplhpqv lgalrelgfp ymtpvqsati plfmrnkdva aeavtgsgkt
       61 lafvipilei llrreeklkk sqvgaiiitp trelaiqide vlshftkhfp efsqilwigg
      121 rnpgedverf kqqggniiva tpgrledmfr rkaegldlas cvrsldvlvl deadrlldmg
      181 feasintile flpkqrrtgl fsatqtqeve nlvraglrnp vrvsvkekgv aassaqktps
      241 rlenyymvck adekfnqlvh flrnhkqekh lvffryssgl cgrgirdsar mcstcacvey
      301 ygkalevlvk gvkimcihgk mkykrnkifm efrklqsgil vctdvmargi dipevnwvlq
      361 ydppsnars
//
LOCUS       XP_054232548             446 aa            linear   PRI 20-MAR-2023
DEFINITION  SPARC-related modular calcium-binding protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054232548
VERSION     XP_054232548.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376573.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..446
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..446
                     /product="SPARC-related modular calcium-binding protein 1
                     isoform X1"
                     /calculated_mol_wt=49443
     CDS             1..446
                     /gene="SMOC1"
                     /gene_synonym="OAS"
                     /coded_by="XM_054376573.1:264..1604"
                     /db_xref="GeneID:64093"
                     /db_xref="HGNC:HGNC:20318"
                     /db_xref="MIM:608488"
ORIGIN      
        1 mlparcarll tphlllvlvq lsparghrtt gprflisdrd pqcnlhcsrt qpkpicasdg
       61 rsyesmceyq rakcrdptlg vvhrgrckda gqskcrlera qaleqakkpq eavfvpecge
      121 dgsftqvqch tytgycwcvt pdgkpisgss vqnktpvcsg svtdkplsqg nsgrkvsfrf
      181 fltlnsddgs kptptmetqp vfdgdeitap tlwikhlvik dsklnntnir nsekvyscdq
      241 erqsaleeaq qnpregivip ecapgglykp vqchqstgyc wcvlvdtgrp lpgtstryvm
      301 pscesdarak tteaddpfkd relpgcpegk kmefitslld alttdmvqai nsaaptgggr
      361 fsepdpshtl eervvhwyfs qldsnssndi nkremkpfkr yvkkkakpkk carrftdycd
      421 lnkdkvislp elkgclgvsk evgrlv
//
LOCUS       XP_054233382             369 aa            linear   PRI 20-MAR-2023
DEFINITION  piRNA biogenesis protein EXD1 isoform X6 [Homo sapiens].
ACCESSION   XP_054233382
VERSION     XP_054233382.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377407.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..369
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..369
                     /product="piRNA biogenesis protein EXD1 isoform X6"
                     /calculated_mol_wt=41987
     CDS             1..369
                     /gene="EXD1"
                     /gene_synonym="EXDL1"
                     /coded_by="XM_054377407.1:246..1355"
                     /db_xref="GeneID:161829"
                     /db_xref="HGNC:HGNC:28507"
ORIGIN      
        1 miledkrilk vihdcrwlsd clshqygill nnvfdtqvad vlqfsmetgg ylpncittlq
       61 eslikhlqva pkylsflekr qkliqenpev wfirpvspsl lkilaleaty llplrlalld
      121 emmsdlttlv dgylntyreg sadrlggtep tcmelpeell qlkdfqkqrr ekaareyrvn
      181 aqgllirtvl qpkklvteta gkeekvkgfl fgknfridka psftsqdfhg dvnllkeesl
      241 nkqatnpqhl ppteegetse dssnklictk skgsedqrit qkehfmtpkh efqaslslke
      301 eteqllmven kedlkctkqa vsmssfpqet rvspsdtfyp irkavvstlp pcpalekids
      361 wispflnlp
//
LOCUS       XP_054175163            1409 aa            linear   PRI 20-MAR-2023
DEFINITION  FH1/FH2 domain-containing protein 3 isoform X25 [Homo sapiens].
ACCESSION   XP_054175163
VERSION     XP_054175163.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319188.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1409
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1409
                     /product="FH1/FH2 domain-containing protein 3 isoform X25"
                     /calculated_mol_wt=157569
     CDS             1..1409
                     /gene="FHOD3"
                     /gene_synonym="CMH28; FHOS2; Formactin2"
                     /coded_by="XM_054319188.1:124..4353"
                     /db_xref="GeneID:80206"
                     /db_xref="HGNC:HGNC:26178"
                     /db_xref="MIM:609691"
ORIGIN      
        1 matlacrvqf lddtdpfnst nfpepsrppl ftfredlalg tqlagvhrll qaphklddct
       61 lqlshngayl dleatlaeqr delegfqdda grgkkhsiil rtqlsvrvha cieklynssg
      121 rdlrralfsl kqifqddkdl vhefvvaegl tclikvgaea dqnyqnyilr algqimlyvd
      181 gmngvinrne tiqwlytlig skfrlvvkta lklllvfvey sesnaplliq avtavdtkrg
      241 vkpwsnimei leekdgvdte llvyamtlvn ktlsglpdqd tfydvvdcle elgiaavsqr
      301 hlnkkgtdld lveqlniyev alrhedgdet tepppsgcrd rrrasvcssg ggehrgldrr
      361 rsrrhsvqsi kstlsaptsp csqsapsfkp nqvrdlreks spsglltssf rqhqeslaae
      421 rerrrqeree rlqriereer nkfsrdyldk reeqrqaree rykyleqlaa eehekelrsr
      481 svsrgradls ldltspgapa claplshsps ssdsqealtv sasspgtphh pqasagdpep
      541 eseaepeaea gagqvadeag qdiasahega eteveqaleq epeeraslse kerqnegvne
      601 rdncsassvs sssstleree kedklsrdrt tglwpagvqd agvngqcgdi ltnkrfmldm
      661 lyahnrkspd deekgdgeag rtqqeaeava slatristlq ansqtqdesv rrvdvgcldn
      721 rgsvkafaek fnsgdlgrgs ispdaepndk vpetapvqpk tesdyiwdql manprelriq
      781 dmdftdlgee ddidvldvdl ghreapgppp pppptflglp ppppppllds ippppvpgnl
      841 lvppppvfna pqglgwsqvp rgqptftkkk ktirlfwnev rpfdwpcknn rrcreflwsk
      901 lepikvdtsr lehlfesksk elsvskktaa dgkrqeiivl dskrsnaini gltvlppprt
      961 ikiailnfde yalnkegiek iltmiptdee kqkiqeaqla npeiplgsae qflltlssis
     1021 elsarlhlwa fkmdyettek evaeplldlk egidqlennk tlgfilstll aignflngtn
     1081 akafelsyle kvpevkdtvh kqsllhhvct mvvenfpdss dlyseigait rsakvdfdql
     1141 qdnlcqmerr ckaswdhlka iakhemkpvl kqrmseflkd caeriiilki vhrriinrfh
     1201 sfllfmghpp yairevnink fcriisefal eyrttrervl qqkqkranhr ernktrgkmi
     1261 tdtdeeeeve sgkfsgsspa ppsqpqglsy aedaaehenm kavlktssps vedatpalgv
     1321 rtrsrasrgs tsswtmgtdd spnvtddaad eimdrivksa tqvpsqrvvp rerkrsranr
     1381 kslrrtlksg ltpeearalg lvgtselql
//
LOCUS       XP_054177045              99 aa            linear   PRI 20-MAR-2023
DEFINITION  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 isoform
            X1 [Homo sapiens].
ACCESSION   XP_054177045
VERSION     XP_054177045.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321070.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..99
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..99
                     /product="NADH dehydrogenase [ubiquinone] 1 beta
                     subcomplex subunit 7 isoform X1"
                     /calculated_mol_wt=11886
     CDS             1..99
                     /gene="NDUFB7"
                     /gene_synonym="B18; CI-B18; MC1DN39"
                     /coded_by="XM_054321070.1:79..378"
                     /db_xref="GeneID:4713"
                     /db_xref="HGNC:HGNC:7702"
                     /db_xref="MIM:603842"
ORIGIN      
        1 mvatqqemmd aqlrlqlrdy cahhlirllk ckrdsfpnfl ackqerhdwd ycehrdyvmr
       61 mkefererrl lqrkkrrekk aaelakgqgp gevdpkval
//
LOCUS       XP_054177572             928 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase H isoform X16 [Homo
            sapiens].
ACCESSION   XP_054177572
VERSION     XP_054177572.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321597.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..928
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..928
                     /product="receptor-type tyrosine-protein phosphatase H
                     isoform X16"
                     /calculated_mol_wt=102940
     CDS             1..928
                     /gene="PTPRH"
                     /gene_synonym="R-PTP-H; SAP1"
                     /coded_by="XM_054321597.1:544..3330"
                     /db_xref="GeneID:5794"
                     /db_xref="HGNC:HGNC:9672"
                     /db_xref="MIM:602510"
ORIGIN      
        1 mwvgkngins sretrnatta hnpvrnlrve aqttssisls wevpdgtdpq nstycvqctg
       61 dggrtetrnt tdtrvtvdgl gpgslytcsv wvekdgvnss veivtsatap npvrnltvea
      121 qtnssialtw evpdgpdpqn stygveytgd ggragtrsta htnitvdrle pgclyvfsvw
      181 vgknginssr etrnattapn pvrnlhmetq tnssialcwe vpdgpypqdy tywveytgdg
      241 ggtetrnttn tsvtaerlep gtlytfsvwa ekngargsrq nvsistvpna vtslskqdwt
      301 nstialrwta pqgpgqssys ywvswvregm tdprtqstsg tditlkelea gslyhltvwa
      361 ernevrgyns tltaatapne vtdlqnetqt knsvmlwwka pgdphsqlyv ywvqwaskgh
      421 prrgqdpqan wvnqtsrtne twykvealep gtlynftvwa erndvasstq slcastypdt
      481 vtitscvsts agygvnliws cpqggyeafe levggqrgsq drsscgeavs vlglgparsy
      541 patittiwdg mkvvshsvvc htesagviag afvgillfli lvgllifflk rrnkkkqqkp
      601 elrdlvfssp gdipaedfad hvrknerdsn cgfadeyqql slvghsqsqm vasasennak
      661 nryrnvlpyd wsrvplkpih eepgsdyina sfmpglwspq efiatqgplp qtvgdfwrlv
      721 weqqshtlvm ltncmeagrv kcehywplds qpcthghlrv tlvgeevmen wtvrellllq
      781 veeqktlsvr qfhyqawpdh gvpsspdtll afwrmlrqwl dqtmeggppi vhcsagvgrt
      841 gtlialdvll rqlqsegllg pfsfvrkmre srplmvqtea qyvflhqcil rflqqsaqap
      901 aekevpyedv enliyenvaa iqahklev
//
LOCUS       XP_054198662             468 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial isoform X1
            [Homo sapiens].
ACCESSION   XP_054198662
VERSION     XP_054198662.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342687.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..468
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..468
                     /product="tRNA (adenine(58)-N(1))-methyltransferase,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=51763
     CDS             1..468
                     /gene="TRMT61B"
                     /coded_by="XM_054342687.1:33..1439"
                     /db_xref="GeneID:55006"
                     /db_xref="HGNC:HGNC:26070"
                     /db_xref="MIM:619404"
ORIGIN      
        1 mlmawcrgpv llclrqglgt nsflhglgqe pfegarslcc rssprdlrdg ereheaaqrk
       61 apgaescpsl plsisdigtg clsslenlrl ptlreesspr eledssgdqg rcgpthqgse
      121 dpsmlsqaqs ateveerhvs pscstsrerp fqagelilae tgegetkfkk lfrlnnfgll
      181 nsnwgavpfg kivgkfpgqi lrssfgkqym lrrpaledyv vlmkrgtait fpkdinmils
      241 mmdinpgdtv leagsgsggm slflskavgs qgrvisfevr kdhhdlakkn ykhwrdswkl
      301 shveewpdnv dfihkdisga tediksltfd avaldmlnph vtlpvfyphl khggvcavyv
      361 vnitqviell dgirtcelal scekiseviv rdwlvclakq kngilaqkve skintdvqld
      421 sqekigvkee shsdfpygsf pyvarpvhwq pghtaflvkl rkvkpqln
//
LOCUS       XP_054179167             456 aa            linear   PRI 20-MAR-2023
DEFINITION  eyes absent homolog 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054179167
VERSION     XP_054179167.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323192.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..456
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..456
                     /product="eyes absent homolog 2 isoform X3"
                     /calculated_mol_wt=50490
     CDS             1..456
                     /gene="EYA2"
                     /gene_synonym="EAB1"
                     /coded_by="XM_054323192.1:156..1526"
                     /db_xref="GeneID:2139"
                     /db_xref="HGNC:HGNC:3520"
                     /db_xref="MIM:601654"
ORIGIN      
        1 mvelvispsl tvnsdcldkl kfnradaavw tlsdrqgitk saplrvsqlf srscprvlpr
       61 qpstamaayg qtqysagiqq atpytayppp aqaygipsys iktedslnhs pgqsgflsyg
      121 ssfstsptgq spytyqmhge ynthngpstp akegdtdrph rasdgklrgr skrssdpspa
      181 gdneiervfv wdldetiiif hslltgtfas rygkdtttsv riglmmeemi fnladthlff
      241 ndledcdqih vddvssddng qdlstynfsa dgfhssapga nlclgsgvhg gvdwmrklaf
      301 ryrrvkemyn tyknnvggli gtpkretwlq lraelealtd lwlthslkal nlinsrpncv
      361 nvlvtttqli palakvllyg lgsvfpieni ysatktgkes cferimqrfg rkavyvvigd
      421 gveeeqgakk hnmpfwrisc hadlealrha leleyl
//
LOCUS       XP_054180065             533 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 2, facilitated glucose transporter member 10
            isoform X4 [Homo sapiens].
ACCESSION   XP_054180065
VERSION     XP_054180065.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324090.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..533
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..533
                     /product="solute carrier family 2, facilitated glucose
                     transporter member 10 isoform X4"
                     /calculated_mol_wt=55604
     CDS             1..533
                     /gene="SLC2A10"
                     /gene_synonym="ATORS; ATS; GLUT10"
                     /coded_by="XM_054324090.1:171..1772"
                     /db_xref="GeneID:81031"
                     /db_xref="HGNC:HGNC:13444"
                     /db_xref="MIM:606145"
ORIGIN      
        1 mshsqdrtld llsqpqaapl pvchsppvlp lcasvsllgg ltfgyelavi sgallplqld
       61 fglscleqef lvgslllgal laslvggfli dcygrkqail gsnlvllags ltlglagsla
      121 wlvlgravvg faislssmac ciyvselvgp rqrgvlvsly eagitvgill syalnyalag
      181 tpwgwrhmfg watapavlqs lsllflpagt detathkdli plqggeapkl gpgrprysfl
      241 dlfrardnmr grttvglglv lfqqltgqpn vlcyastifs svgfhggssa vlasvglgav
      301 kvaatltamg lvdragrral llagcalmal svsgiglvsf avpmdsgpsc lavpnatgqt
      361 glpgdsgllq dsslppiprt nedqrepils takktkphpr sgdpsapprl alssalpgpp
      421 lparghallr wtallclmvf vsafsfgfgp gprshhspga lllshpsdla cpqrdlpcgd
      481 trkslrllqq lqlggqplhq pllprshwft lsfghrqnst gipysrieis aas
//
LOCUS       XP_054182044             339 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein KIAA1671 isoform X2 [Homo sapiens].
ACCESSION   XP_054182044
VERSION     XP_054182044.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326069.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..339
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..339
                     /product="uncharacterized protein KIAA1671 isoform X2"
                     /calculated_mol_wt=37126
     CDS             1..339
                     /gene="KIAA1671"
                     /coded_by="XM_054326069.1:1353..2372"
                     /db_xref="GeneID:85379"
                     /db_xref="HGNC:HGNC:29345"
ORIGIN      
        1 mssraaqpgd pgalvaasgs elaacrptgl espargqktc mgqdqlkqcf srqptepkdt
       61 dtlvheagsq ygtwteqcqs geslatespd ssatstrkqp pssrlsslss qteptsagdq
      121 ydcsrdqrst svdhsstdle stdgmegppp pdacpekrvd dfsfidqtsv ldssalktrv
      181 qlskrsrrra pishslrrsr fsesesrspl edetdntwmf kdsteekspr keesdeeeta
      241 skaertpvsh pqrmpafpgm dpavlkaqlh krpevdspge tpswapqpks pkspfqpgvl
      301 gsrvlpssmd kdersdepsp qwlkelkskk rqslyenqv
//
LOCUS       XP_047300094             560 aa            linear   PRI 20-MAR-2023
DEFINITION  keratinocyte proline-rich protein isoform X2 [Homo sapiens].
ACCESSION   XP_047300094
VERSION     XP_047300094.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047444138.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 44% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..560
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..560
                     /product="keratinocyte proline-rich protein isoform X2"
                     /calculated_mol_wt=58576
     CDS             1..560
                     /gene="LOC112268458"
                     /coded_by="XM_047444138.1:1..1683"
                     /db_xref="GeneID:112268458"
ORIGIN      
        1 mpslrlshmh tdapssptrp patpgrpgsp iwglpprglp svrvprhrgl qppqtarpvc
       61 eadsvlgtvl tlqgwvtggs pgpvalvgll arlllgwagl rppaslggap llpstsqvht
      121 appwgcaltq gqevghplgg lktlsegkag paqglagrvg lggkggpwge ptrmlprrpe
      181 pltaaepagt asgrlhclga virsrdglhg apgltgvadl pqmgrqrrgr vghrwlrree
      241 ipsaneipap slpvpgrgag hflqapsrpr aqvacaggsr ttriscapgs ggnawpcprq
      301 rrkhsrseva rgrrclspaa rlgpwpptpt apalggpgpa agaalpdqsf lwnvfqschl
      361 apprhlpppp qlprtrvptp aanpvpcrlp rglprhlpgp qrpppspapt savspapart
      421 pagapepypd rrgrphplpr pprpppspsg spavspvrcp vswgrpcllp gpcpvrralp
      481 kvqraplqtr grghrllgqa lflassrrgr vsrvlvwgkr kqtvwaavkm saakeeaatw
      541 rllgpgdlyg gafcpwslfh
//
LOCUS       XP_054206853             252 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 156 isoform X9 [Homo sapiens].
ACCESSION   XP_054206853
VERSION     XP_054206853.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350878.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..252
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..252
                     /product="transmembrane protein 156 isoform X9"
                     /calculated_mol_wt=29297
     CDS             1..252
                     /gene="TMEM156"
                     /coded_by="XM_054350878.1:408..1166"
                     /db_xref="GeneID:80008"
                     /db_xref="HGNC:HGNC:26260"
ORIGIN      
        1 mtktallklf vaivitfili lpeyfktpke rtlelsclev clqsnftysl sslnfsfvtf
       61 lqpvretqii mriflnpsnf rnftrtcqdi tvlirrgsme vkandfhspc qhfnfsvapl
      121 vdhleeyntt chlknhtgrs timedepske ksinytcrim eypndcihis lhlemdikni
      181 tcsmkitwyi lvllvfifli iltirkileg qrrvqkwqsh rdkptsvllr gsdseklral
      241 nvqvlsgrns qm
//
LOCUS       XP_054211095             223 aa            linear   PRI 20-MAR-2023
DEFINITION  natural cytotoxicity triggering receptor 3 isoform X11 [Homo
            sapiens].
ACCESSION   XP_054211095
VERSION     XP_054211095.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355120.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..223
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..223
                     /product="natural cytotoxicity triggering receptor 3
                     isoform X11"
                     /calculated_mol_wt=23883
     CDS             1..223
                     /gene="NCR3"
                     /gene_synonym="1C7; CD337; LY117; MALS; NKp30"
                     /coded_by="XM_054355120.1:669..1340"
                     /db_xref="GeneID:259197"
                     /db_xref="HGNC:HGNC:19077"
                     /db_xref="MIM:611550"
ORIGIN      
        1 mhpmpgeswd vllqallsfl fgitgevflw vfllppgsca lwvsqppeir tlegssaflp
       61 csfnasqgrl aigsvtwfrd evvpgkevrn gtpefrgrla plassrflhd hqaelhirdv
      121 rghdasiyvc rvevlglgvg tgngtrlvve kehpqlgagt vlllragfya vsflsvavgs
      181 tvyyqgkclt wkgprrqlpa vvpaplpppc gssahllppv pgg
//
LOCUS       XP_054212397             476 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor EB isoform X1 [Homo sapiens].
ACCESSION   XP_054212397
VERSION     XP_054212397.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356422.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..476
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..476
                     /product="transcription factor EB isoform X1"
                     /calculated_mol_wt=52734
     CDS             1..476
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /coded_by="XM_054356422.1:561..1991"
                     /db_xref="GeneID:7942"
                     /db_xref="HGNC:HGNC:11753"
                     /db_xref="MIM:600744"
ORIGIN      
        1 masriglrmq lmreqaqqee qrermqqqav mhymqqqqqq qqqqlggppt paintpvhfq
       61 spppvpgevl kvqsylenpt syhlqqsqhq kvreylsety gnkfaahisp aqgspkpppa
      121 aspgvraghv lsssagnsap nspmamlhig snperelddv idnimrlddv lgyinpemqm
      181 pntlplsssh lnvyssdpqv taslvgvtss scpadltqkr eltdaesral akerqkkdnh
      241 nlierrrrfn indrikelgm lipkandldv rwnkgtilka svdyirrmqk dlqksrelen
      301 hsrrlemtnk qlwlriqele mqarvhglpt tspsgmnmae laqqvvkqel pseegpgeal
      361 mlgaevpdpe plpalppqap lplptqppsp fhhldfshsl sfggredegp pgypeplapg
      421 hgspfpslsk kdldlmlldd sllplasdpl lstmspeask assrrssfsm eegdvl
//
LOCUS       XP_054182470             343 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium/calmodulin-dependent protein kinase type 1B isoform X2
            [Homo sapiens].
ACCESSION   XP_054182470
VERSION     XP_054182470.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326495.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..343
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..343
                     /product="calcium/calmodulin-dependent protein kinase type
                     1B isoform X2"
                     /calculated_mol_wt=38369
     CDS             1..343
                     /gene="PNCK"
                     /gene_synonym="BSTK3; CaMK1b"
                     /coded_by="XM_054326495.1:76..1107"
                     /db_xref="GeneID:139728"
                     /db_xref="HGNC:HGNC:13415"
                     /db_xref="MIM:300680"
ORIGIN      
        1 mlllkkhted issvyeirer lgsgafsevv laqergsahl valkcipkka lrgkealven
       61 eiavlrrish pnivaledvh espshlylam elvtggelfd rimergsyte kdashlvgqv
      121 lgavsylhsl givhrdlkpe nllyatpfed skimvsdfgl skiqagnmlg tacgtpgyva
      181 pelleqkpyg kavdvwalgv isyillcgyp pfydesdpel fsqilrasye fdspfwddis
      241 esakdfirhl lerdpqkrft cqqalrhlwi sgdtafdrdi lgsvseqirk nfarthwkra
      301 fnatsflrhi rklgqipege gaseqgmarh shsglragqp pkw
//
LOCUS       XP_054183082             156 aa            linear   PRI 20-MAR-2023
DEFINITION  sperm protein associated with the nucleus on the X chromosome N4
            isoform X2 [Homo sapiens].
ACCESSION   XP_054183082
VERSION     XP_054183082.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327107.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..156
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..156
                     /product="sperm protein associated with the nucleus on the
                     X chromosome N4 isoform X2"
                     /calculated_mol_wt=17226
     CDS             1..156
                     /gene="SPANXN4"
                     /gene_synonym="CT11.9"
                     /coded_by="XM_054327107.1:88..558"
                     /db_xref="GeneID:441525"
                     /db_xref="HGNC:HGNC:33177"
                     /db_xref="MIM:300667"
ORIGIN      
        1 meeptsstne nkmkspcesn krkvdkkknl hrasapeqsl ketekakypt lvfycrknkk
       61 rnsnqlennq ptesstdpik ekgdldisag spqdgeeekd lvflgaracl eehirrsvly
      121 vgdsdtlskm ktsesppsgh ipqsgvfcns pnavsn
//
LOCUS       NP_001387154            3114 aa            linear   PRI 24-MAR-2023
DEFINITION  MAX gene-associated protein isoform 3 [Homo sapiens].
ACCESSION   NP_001387154 XP_005254305
VERSION     NP_001387154.1
DBSOURCE    REFSEQ: accession NM_001400225.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 3114)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (residues 1 to 3114)
  AUTHORS   Llabata P, Mitsuishi Y, Choi PS, Cai D, Francis JM, Torres-Diz M,
            Udeshi ND, Golomb L, Wu Z, Zhou J, Svinkina T, Aguilera-Jimenez E,
            Liu Y, Carr SA, Sanchez-Cespedes M, Meyerson M and Zhang X.
  TITLE     Multi-Omics Analysis Identifies MGA as a Negative Regulator of the
            MYC Pathway in Lung Adenocarcinoma
  JOURNAL   Mol Cancer Res 18 (4), 574-584 (2020)
   PUBMED   31862696
  REMARK    GeneRIF: Multi-Omics Analysis Identifies MGA as a Negative
            Regulator of the MYC Pathway in Lung Adenocarcinoma.
REFERENCE   3  (residues 1 to 3114)
  AUTHORS   Zhao K, Du J, Peng Y, Li P, Wang S, Wang Y, Hou J, Kang J, Zheng W,
            Hua S and Yu XF.
  TITLE     LINE1 contributes to autoimmunity through both RIG-I- and
            MDA5-mediated RNA sensing pathways
  JOURNAL   J Autoimmun 90, 105-115 (2018)
   PUBMED   29525183
  REMARK    GeneRIF: this study shows that LINE1 contributes to autoimmunity
            through both RIG-I- and MDA5-mediated RNA sensing pathways
REFERENCE   4  (residues 1 to 3114)
  AUTHORS   Hauri S, Comoglio F, Seimiya M, Gerstung M, Glatter T, Hansen K,
            Aebersold R, Paro R, Gstaiger M and Beisel C.
  TITLE     A High-Density Map for Navigating the Human Polycomb Complexome
  JOURNAL   Cell Rep 17 (2), 583-595 (2016)
   PUBMED   27705803
REFERENCE   5  (residues 1 to 3114)
  AUTHORS   Jo YS, Kim MS, Yoo NJ and Lee SH.
  TITLE     Somatic mutation of a candidate tumour suppressor MGA gene and its
            mutational heterogeneity in colorectal cancers
  JOURNAL   Pathology 48 (5), 525-527 (2016)
   PUBMED   27306572
  REMARK    GeneRIF: we suggest that MGA loss-of-function mutations are present
            in colorectal cancers
REFERENCE   6  (residues 1 to 3114)
  AUTHORS   Wang J, Huo K, Ma L, Tang L, Li D, Huang X, Yuan Y, Li C, Wang W,
            Guan W, Chen H, Jin C, Wei J, Zhang W, Yang Y, Liu Q, Zhou Y, Zhang
            C, Wu Z, Xu W, Zhang Y, Liu T, Yu D, Zhang Y, Chen L, Zhu D, Zhong
            X, Kang L, Gan X, Yu X, Ma Q, Yan J, Zhou L, Liu Z, Zhu Y, Zhou T,
            He F and Yang X.
  TITLE     Toward an understanding of the protein interaction network of the
            human liver
  JOURNAL   Mol Syst Biol 7, 536 (2011)
   PUBMED   21988832
  REMARK    Erratum:[Mol Syst Biol. 2017 Dec 18;13(12 ):965. PMID: 29254952]
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 3114)
  AUTHORS   Bandyopadhyay S, Chiang CY, Srivastava J, Gersten M, White S, Bell
            R, Kurschner C, Martin C, Smoot M, Sahasrabudhe S, Barber DL,
            Chanda SK and Ideker T.
  TITLE     A human MAP kinase interactome
  JOURNAL   Nat Methods 7 (10), 801-805 (2010)
   PUBMED   20936779
REFERENCE   8  (residues 1 to 3114)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   9  (residues 1 to 3114)
  AUTHORS   Dou Y, Milne TA, Tackett AJ, Smith ER, Fukuda A, Wysocka J, Allis
            CD, Chait BT, Hess JL and Roeder RG.
  TITLE     Physical association and coordinate function of the H3 K4
            methyltransferase MLL1 and the H4 K16 acetyltransferase MOF
  JOURNAL   Cell 121 (6), 873-885 (2005)
   PUBMED   15960975
REFERENCE   10 (residues 1 to 3114)
  AUTHORS   Hurlin PJ, Steingrimsson E, Copeland NG, Jenkins NA and Eisenman
            RN.
  TITLE     Mga, a dual-specificity transcription factor that interacts with
            Max and contains a T-domain DNA-binding motif
  JOURNAL   EMBO J 18 (24), 7019-7028 (1999)
   PUBMED   10601024
  REMARK    Erratum:[EMBO J 2000 Jul 17;19(14):3841]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC016134.7 and AC073657.5.
            On Jan 20, 2022 this sequence version replaced XP_005254305.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.705638.1,
                                           SRR14038196.1330397.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000703841.1/ ENSP00000515495.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..3114
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     Protein         1..3114
                     /product="MAX gene-associated protein isoform 3"
                     /note="MAX dimerization protein 5; MAX gene-associated
                     protein; MGA, MAX dimerization protein"
                     /calculated_mol_wt=341233
     Region          75..260
                     /region_name="T-box_MGA-like"
                     /note="DNA-binding domain of MAX gene-associated protein
                     and related T-box proteins; cd20195"
                     /db_xref="CDD:410321"
     Site            order(102..103,136,180,183,196..197,237..240,245,248..249,
                     252..258)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410321"
     Region          259..322
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            534
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          604..653
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            607
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            645
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            851
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          881..911
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            924
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          971..990
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          1041..1082
                     /region_name="DUF4801"
                     /note="Domain of unknown function (DUF4801); pfam16059"
                     /db_xref="CDD:435106"
     Site            1208
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          1246..1332
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          1380..1429
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            1430
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            1457
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          1536..>1854
                     /region_name="DUF5585"
                     /note="Family of unknown function (DUF5585); pfam17823"
                     /db_xref="CDD:436069"
     Region          1537..1566
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          1954..1976
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          2016..2078
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          2307..2365
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            2314
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          2474..2538
                     /region_name="bHLHzip_MGA"
                     /note="basic Helix-Loop-Helix-zipper (bHLHzip) domain
                     found in MAX gene-associated protein (MGA) and similar
                     proteins; cd18911"
                     /db_xref="CDD:381481"
     Site            order(2474,2476..2478,2480..2482,2484..2485,2489,
                     2508..2509)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381481"
     Site            order(2488,2491..2492,2494..2495,2498..2500,2510,
                     2513..2514,2517,2519..2521,2523..2524,2526..2527,2530,
                     2533..2534,2537..2538)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381481"
     Site            2590
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          2625..2644
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          2717..2758
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            2959
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            2970
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Region          2993..3017
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWI9.4)"
     Site            3027
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IWI9.4)"
     CDS             1..3114
                     /gene="MGA"
                     /gene_synonym="MAD5; MXD5"
                     /coded_by="NM_001400225.1:189..9533"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS91982.1"
                     /db_xref="GeneID:23269"
                     /db_xref="HGNC:HGNC:14010"
                     /db_xref="MIM:616061"
ORIGIN      
        1 meekqqiila nqdggtvaga aptffvilkq pgngktdqgi lvtnqdacal assvsspvks
       61 kgkiclpadc tvggitvtld nnsmwnefyh rstemiltkq grrmfpycry witgldsnlk
      121 yilvmdispv dnhrykwngr wwepsgkaep hvlgrvfihp espstghywm hqpvsfyklk
      181 ltnntldqeg hiilhsmhry lprlhlvpae kaveviqlng pgvhtftfpq teffavtayq
      241 niqitqlkid ynpfakgfrd dglnnkpqrd gkqknssdqe gnnissssgh rvrltegqgs
      301 eiqpgdldpl srghetsgkg lektslnikr dflgfmdtds alsevpqlkq eisecliass
      361 feddsrvasp ldqngsfnvv ikeeplddyd yelgecpegv tvkqeetdee tdvysnsddd
      421 pilekqlkrh nkvdnpeadh lsskwlpssp sgvakakmfk ldtgkmpvvy lepcavtrst
      481 vkiselpdnm lstsrkdkss mlaeleylpt yiensnetaf clgkesengl rkhspdlrvv
      541 qkypllkepq wkypdisdsi sterilddsk dsvgdslsgk edlgrkrttm lkiataakvv
      601 nanqnaspnv pgkrgrprkl klckagrppk ntgkslistk ntpvspgstf pdvkpdledv
      661 dgvlfvsfes kealdihavd gtteessslq asttndsgyr arisqlekel iedlktlrhk
      721 qvihpglqev glklnsvdpt msidlkylgv qlplapatsf pfwnltgtnp aspdagfpfv
      781 srtgktndft kikgwrgkfh sasasrnegg nsesslknrs afcsdkldey lenegklmet
      841 smgfssnapt spvvyqlptk stsyvrtlds vlkkqstisp stsyslkphs vppvsrkaks
      901 qnrqatfsgr tkssyksilp ypvspkqkys hvilgdkvtk nssgiisenq annfvvptld
      961 enifpkqisl rqaqqqqqqq qgsrppglsk sqvklmdled calwegkprt yiteeradvs
     1021 lttlltaqas lktkpihtii rkrappcnnd fcrlgcvcss lalekrqpah crrpdcmfgc
     1081 tclkrkvvlv kggsktkhfq rkaahrdpvf ydtlgeeare eeegireeee qlkekkkrkk
     1141 leyticetep eqpvrhyplw vkvegevdpe pvyiptpsvi epmkplllpq pevlsptvkg
     1201 klltgikspr sytpkpnpvi reedkdpvyl yfesmmtcar vrvyerkked qrqpsssssp
     1261 spsfqqqtsc hsspenhnna kepdseqqpl kqltcdledd sdklqekswk sscnegesss
     1321 tsymhqrspg gptklieiis dcnweedrnk ilsilsqhin snmpqslkvg sfiielasqr
     1381 ksrgeknppv yssrvkismp scqdqddmae ksgsetpdgp lspgkmedis pvqtdaldsv
     1441 rerlhggkgl pfyaglspag klvaykrkps sstsgliqvn gksypqakll lgqmgalhpa
     1501 nrlaayitgr lrpsvldlst lstviskvas nakvaasrkp rtllpstsns kmasssgtat
     1561 nrpgknlkaf vpakrpiaar pspggvftqf vmskvgalqq kipgvstpqt lagtqkfsir
     1621 pspvmvvtpv vssepvqvcs pvtaavtttt pqvflentta vtpmtaisdv etkettyssg
     1681 atttgvvevs etntstsvts tqstatvnlt kttgittpva svafpkslva spstitlpva
     1741 stastslvvv taaasssmvt tptsslgsvp iilsgingsp pvsqrpenaa qipvatpqvs
     1801 pntvkragpr lllipvqqgs ptlrpvsntq lqghrmvlqp vrspsgmnlf rhpngqivql
     1861 lplhqlrgsn tqpnlqpvmf rnpgsvmgir lpapskpset ppsstsssaf svmnpviqav
     1921 gsssavnvit qapsllssga sfvsqagtlt lrisppepqs fasktgsetk ityssggqpv
     1981 gtasliplqs gsfallqlpg qkpvpssilq hvaslqmkre sqnpdqkdet nsikreqetk
     2041 kvlqsegeav dpeanvikqn sgaatseetl ndsledrgdh ldeeclpeeg catvkpsehs
     2101 citgshtdqd ykdvneeyga rnrksskekv avlevrtise kasnktvqnl skvqhqklgd
     2161 vkveqqkgfd npeenssefp vtfkeeskfe lsgskvmeqq snlqpeakek ecgdslekdr
     2221 erwrkhlkgp ltrkcvgasq eckkeadeql iketktcqen sdvfqqeqgi sdllgksgit
     2281 edarvlktec dswsrisnps afsivprraa kssrgnghfq ghlllpgeqi qpkqekkggr
     2341 ssadftvldl eeddeddnek tddsideivd vvsdyqseev ddveknncve yieddeehvd
     2401 ietveelsee invahlktta ahtqsfkqps cthisadeka aersrkappi plklkpdyws
     2461 dklqkeaeaf ayyrrthtan errrrgemrd lfeklkitlg llhsskvsks liltrafsei
     2521 qgltdqadkl igqknlltrk rnilirkvss lsgkteevvl kkleyiyakq qaleaqkrkk
     2581 kmgsdefdis priskqqegs sassvdlgqm finnrrgkpl ilsrkkdqat entsplntph
     2641 tsanlvmtpq gqlltlkgpl fsgpvvavsp dllesdlkpq vagsavalpe nddlfmmpri
     2701 vnvtslateg glvdmggsky phevpdskps dhlkdtvrne dnsledkgri ssrgnrdgrv
     2761 tlgptqvfla nkdsgypqiv dvsnmqkaqe flpkkisgdm rgiqykwkes esrgervksk
     2821 dssfhklkmk dlkdssieme lrkvtsaiee aaldssellt nmededdtde tltsllneia
     2881 flnqqlndds vglaelpssm dtefpgdarr afiskvppgs ratfqvehlg tglkelpdvq
     2941 gesdsispll lhledddfse nekqlaepas epdvlkivid seikdsllsn kkaidggknt
     3001 sglpaepesv sspptlhmkt glensnstdt lwrpmpklap lglkvanpss dadgqslkvm
     3061 pclapiaakv gsvghkmnlt gndqegresk vmptlapvva klgnsgasps sagk
//
LOCUS       NP_004346                232 aa            linear   PRI 26-MAR-2023
DEFINITION  HLA class II histocompatibility antigen gamma chain isoform b [Homo
            sapiens].
ACCESSION   NP_004346
VERSION     NP_004346.1
DBSOURCE    REFSEQ: accession NM_004355.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 232)
  AUTHORS   Cao L, Wang X, Liu X, Meng W, Guo W, Duan C, Liang X, Kang L, Lv P,
            Lin Q, Zhang R, Zhang X and Shen H.
  TITLE     Tumor Necrosis Factor alpha-Dependent Lung Inflammation Promotes
            the Progression of Lung Adenocarcinoma Originating From Alveolar
            Type II Cells by Upregulating MIF-CD74
  JOURNAL   Lab Invest 103 (3), 100034 (2023)
   PUBMED   36925198
  REMARK    GeneRIF: Tumor Necrosis Factor alpha-Dependent Lung Inflammation
            Promotes the Progression of Lung Adenocarcinoma Originating From
            Alveolar Type II Cells by Upregulating MIF-CD74.
REFERENCE   2  (residues 1 to 232)
  AUTHORS   Ibanez LI, Martinez VP, Iglesias AA, Bellomo CM, Alonso DO, Coelho
            RM, Martinez Peralta L and Periolo N.
  TITLE     Decreased expression of surfactant Protein-C and CD74 in alveolar
            epithelial cells during influenza virus A(H1N1)pdm09 and H3N2
            infection
  JOURNAL   Microb Pathog 176, 106017 (2023)
   PUBMED   36736545
  REMARK    GeneRIF: Decreased expression of surfactant Protein-C and CD74 in
            alveolar epithelial cells during influenza virus A(H1N1)pdm09 and
            H3N2 infection.
REFERENCE   3  (residues 1 to 232)
  AUTHORS   Thavayogarajah T, Sinitski D, El Bounkari O, Torres-Garcia L,
            Lewinsky H, Harjung A, Chen HR, Panse J, Vankann L, Shachar I,
            Bernhagen J and Koschmieder S.
  TITLE     CXCR4 and CD74 together enhance cell survival in response to
            macrophage migration-inhibitory factor in chronic lymphocytic
            leukemia
  JOURNAL   Exp Hematol 115, 30-43 (2022)
   PUBMED   36096455
  REMARK    GeneRIF: CXCR4 and CD74 together enhance cell survival in response
            to macrophage migration-inhibitory factor in chronic lymphocytic
            leukemia.
REFERENCE   4  (residues 1 to 232)
  AUTHORS   Trifone C, Baquero L, Czernikier A, Benencio P, Leng L, Laufer N,
            Quiroga MF, Bucala R, Ghiglione Y and Turk G.
  TITLE     Macrophage Migration Inhibitory Factor (MIF) Promotes Increased
            Proportions of the Highly Permissive Th17-like Cell Profile during
            HIV Infection
  JOURNAL   Viruses 14 (10), 2218 (2022)
   PUBMED   36298774
  REMARK    GeneRIF: Macrophage Migration Inhibitory Factor (MIF) Promotes
            Increased Proportions of the Highly Permissive Th17-like Cell
            Profile during HIV Infection.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 232)
  AUTHORS   Peng F, Yan S, Liu H, Liu Z, Jiang F, Cao P and Fu R.
  TITLE     Roles of LINC01473 and CD74 in osteoblasts in multiple myeloma bone
            disease
  JOURNAL   J Investig Med 70 (5), 1301-1307 (2022)
   PUBMED   35145037
  REMARK    GeneRIF: Roles of LINC01473 and CD74 in osteoblasts in multiple
            myeloma bone disease.
REFERENCE   6  (residues 1 to 232)
  AUTHORS   Riberdy JM, Newcomb JR, Surman MJ, Barbosa JA and Cresswell P.
  TITLE     HLA-DR molecules from an antigen-processing mutant cell line are
            associated with invariant chain peptides
  JOURNAL   Nature 360 (6403), 474-477 (1992)
   PUBMED   1448172
REFERENCE   7  (residues 1 to 232)
  AUTHORS   Bakke O and Dobberstein B.
  TITLE     MHC class II-associated invariant chain contains a sorting signal
            for endosomal compartments
  JOURNAL   Cell 63 (4), 707-716 (1990)
   PUBMED   2121367
REFERENCE   8  (residues 1 to 232)
  AUTHORS   Marks MS, Blum JS and Cresswell P.
  TITLE     Invariant chain trimers are sequestered in the rough endoplasmic
            reticulum in the absence of association with HLA class II antigens
  JOURNAL   J Cell Biol 111 (3), 839-855 (1990)
   PUBMED   2391366
REFERENCE   9  (residues 1 to 232)
  AUTHORS   Spiro RC and Quaranta V.
  TITLE     The invariant chain is a phosphorylated subunit of class II
            molecules
  JOURNAL   J Immunol 143 (8), 2589-2594 (1989)
   PUBMED   2507633
REFERENCE   10 (residues 1 to 232)
  AUTHORS   Kudo,J., Chao,L.Y., Narni,F. and Saunders,G.F.
  TITLE     Structure of the human gene encoding the invariant gamma-chain of
            class II histocompatibility antigens
  JOURNAL   Nucleic Acids Res 13 (24), 8827-8841 (1985)
   PUBMED   3001652
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011388.7 and AC011372.7.
            
            Summary: The protein encoded by this gene associates with class II
            major histocompatibility complex (MHC) and is an important
            chaperone that regulates antigen presentation for immune response.
            It also serves as cell surface receptor for the cytokine macrophage
            migration inhibitory factor (MIF) which, when bound to the encoded
            protein, initiates survival pathways and cell proliferation. This
            protein also interacts with amyloid precursor protein (APP) and
            suppresses the production of amyloid beta (Abeta). Multiple
            alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Aug 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC018726.1, SRR14038197.135847.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..232
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.1"
     Protein         1..232
                     /product="HLA class II histocompatibility antigen gamma
                     chain isoform b"
                     /note="Ia-associated invariant chain; CD74 molecule, major
                     histocompatibility complex, class II invariant chain; CD74
                     antigen (invariant polypeptide of major histocompatibility
                     complex, class II antigen-associated); gamma chain of
                     class II antigens; HLA-DR-gamma; HLA class II
                     histocompatibility antigen gamma chain; MHC HLA-DR gamma
                     chain; HLA-DR antigens-associated invariant chain; class
                     II MHC-associated invariant chain peptide"
                     /calculated_mol_wt=26268
     Region          1..40
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P04233.3)"
     Region          17..129
                     /region_name="MHC2-interact"
                     /note="CLIP, MHC2 interacting; pfam09307"
                     /db_xref="CDD:401300"
     Site            25
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04441; propagated from
                     UniProtKB/Swiss-Prot (P04233.3)"
     Site            47..72
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P04233.3)"
     mat_peptide     97..120
                     /product="Class-II-associated invariant chain peptide.
                     /evidence=ECO:0000269|PubMed:1448172. /id=PRO_0000448886"
                     /note="propagated from UniProtKB/Swiss-Prot (P04233.3)"
                     /calculated_mol_wt=2676
     Site            130
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P04233.3)"
     Region          136..203
                     /region_name="MHCassoc_trimer"
                     /note="Class II MHC-associated invariant chain
                     trimerisation domain; pfam08831"
                     /db_xref="CDD:430246"
     Site            136
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04233.3)"
     Site            203
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:22171320,
                     ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (P04233.3)"
     CDS             1..232
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /coded_by="NM_004355.4:162..860"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS47308.1"
                     /db_xref="GeneID:972"
                     /db_xref="HGNC:HGNC:1697"
                     /db_xref="MIM:142790"
ORIGIN      
        1 mhrrrsrscr edqkpvmddq rdlisnneql pmlgrrpgap eskcsrgaly tgfsilvtll
       61 lagqattayf lyqqqgrldk ltvtsqnlql enlrmklpkp pkpvskmrma tpllmqalpm
      121 galpqgpmqn atkygnmted hvmhllqnad plkvypplkg sfpenlrhlk ntmetidwkv
      181 feswmhhwll femsrhsleq kptdappkes leledpssgl gvtkqdlgpv pm
//
LOCUS       NP_001278766             477 aa            linear   PRI 28-MAR-2023
DEFINITION  DNA-binding protein Ikaros isoform 2 [Homo sapiens].
ACCESSION   NP_001278766
VERSION     NP_001278766.1
DBSOURCE    REFSEQ: accession NM_001291837.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 477)
  AUTHORS   Liu X, Xiao M, Xing Z, Jiang H, Zhu C, Zhang X, Li W, Wang Z, Wu F
            and Chen Y.
  TITLE     Contributions of ARID5B, IKZF1, PIP4K2A, and GATA3 Gene
            Polymorphisms to Childhood Acute Lymphoblastic Leukemia in a
            Chinese Population
  JOURNAL   J Pediatr Hematol Oncol 45 (3), 123-129 (2023)
   PUBMED   36952466
  REMARK    GeneRIF: Contributions of ARID5B, IKZF1, PIP4K2A, and GATA3 Gene
            Polymorphisms to Childhood Acute Lymphoblastic Leukemia in a
            Chinese Population.
REFERENCE   2  (residues 1 to 477)
  AUTHORS   Wagener R, Elitzur S, Brozou T and Borkhardt A.
  TITLE     Functional damaging germline variants in ETV6, IKZF1, PAX5 and
            RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia
  JOURNAL   Eur J Med Genet 66 (4), 104725 (2023)
   PUBMED   36764385
  REMARK    GeneRIF: Functional damaging germline variants in ETV6, IKZF1, PAX5
            and RUNX1 predisposing to B-cell precursor acute lymphoblastic
            leukemia.
            Review article
REFERENCE   3  (residues 1 to 477)
  AUTHORS   Conserva MR, Redavid I, Anelli L, Zagaria A, Tarantini F, Cumbo C,
            Tota G, Parciante E, Coccaro N, Minervini CF, Minervini A, Specchia
            G, Musto P and Albano F.
  TITLE     IKAROS in Acute Leukemia: A Positive Influencer or a Mean Hater?
  JOURNAL   Int J Mol Sci 24 (4), 3282 (2023)
   PUBMED   36834692
  REMARK    GeneRIF: IKAROS in Acute Leukemia: A Positive Influencer or a Mean
            Hater?
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 477)
  AUTHORS   Ezzat S, Yu S and Asa SL.
  TITLE     Ikaros isoforms in human pituitary tumors: distinct localization,
            histone acetylation, and activation of the 5' fibroblast growth
            factor receptor-4 promoter
  JOURNAL   Am J Pathol 163 (3), 1177-1184 (2003)
   PUBMED   12937159
REFERENCE   5  (residues 1 to 477)
  AUTHORS   Payne KJ, Nicolas JH, Zhu JY, Barsky LW and Crooks GM.
  TITLE     Cutting edge: predominant expression of a novel Ikaros isoform in
            normal human hemopoiesis
  JOURNAL   J Immunol 167 (4), 1867-1870 (2001)
   PUBMED   11489963
  REMARK    GeneRIF: A novel Ikaros isoform 'Ikx' is the predominant Ikaros
            protein present in normal cord blood and bone marrow cells, but not
            in leukemia cell lines.
REFERENCE   6  (residues 1 to 477)
  AUTHORS   Nakayama H, Ishimaru F, Avitahl N, Sezaki N, Fujii N, Nakase K,
            Ninomiya Y, Harashima A, Minowada J, Tsuchiyama J, Imajoh K,
            Tsubota T, Fukuda S, Sezaki T, Kojima K, Hara M, Takimoto H,
            Yorimitsu S, Takahashi I, Miyata A, Taniguchi S, Tokunaga Y, Gondo
            H, Niho Y, Harada M et al.
  TITLE     Decreases in Ikaros activity correlate with blast crisis in
            patients with chronic myelogenous leukemia
  JOURNAL   Cancer Res 59 (16), 3931-3934 (1999)
   PUBMED   10463586
REFERENCE   7  (residues 1 to 477)
  AUTHORS   Sun L, Heerema N, Crotty L, Wu X, Navara C, Vassilev A, Sensel M,
            Reaman GH and Uckun FM.
  TITLE     Expression of dominant-negative and mutant isoforms of the
            antileukemic transcription factor Ikaros in infant acute
            lymphoblastic leukemia
  JOURNAL   Proc Natl Acad Sci U S A 96 (2), 680-685 (1999)
   PUBMED   9892693
REFERENCE   8  (residues 1 to 477)
  AUTHORS   Molnar A, Wu P, Largespada DA, Vortkamp A, Scherer S, Copeland NG,
            Jenkins NA, Bruns G and Georgopoulos K.
  TITLE     The Ikaros gene encodes a family of lymphocyte-restricted zinc
            finger DNA binding proteins, highly conserved in human and mouse
  JOURNAL   J Immunol 156 (2), 585-592 (1996)
   PUBMED   8543809
REFERENCE   9  (residues 1 to 477)
  AUTHORS   Hahm K, Ernst P, Lo K, Kim GS, Turck C and Smale ST.
  TITLE     The lymphoid transcription factor LyF-1 is encoded by specific,
            alternatively spliced mRNAs derived from the Ikaros gene
  JOURNAL   Mol Cell Biol 14 (11), 7111-7123 (1994)
   PUBMED   7935426
REFERENCE   10 (residues 1 to 477)
  AUTHORS   Georgopoulos K, Moore DD and Derfler B.
  TITLE     Ikaros, an early lymphoid-specific transcription factor and a
            putative mediator for T cell commitment
  JOURNAL   Science 258 (5083), 808-812 (1992)
   PUBMED   1439790
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB122945.1, BC018349.1 and
            JX459579.1.
            
            Summary: This gene encodes a transcription factor that belongs to
            the family of zinc-finger DNA-binding proteins associated with
            chromatin remodeling. The expression of this protein is restricted
            to the fetal and adult hemo-lymphopoietic system, and it functions
            as a regulator of lymphocyte differentiation. Several alternatively
            spliced transcript variants encoding different isoforms have been
            described for this gene. Most isoforms share a common C-terminal
            domain, which contains two zinc finger motifs that are required for
            hetero- or homo-dimerization, and for interactions with other
            proteins. The isoforms, however, differ in the number of N-terminal
            zinc finger motifs that bind DNA and in nuclear localization signal
            presence, resulting in members with and without DNA-binding
            properties. Only a few isoforms contain the requisite three or more
            N-terminal zinc motifs that confer high affinity binding to a
            specific core DNA sequence element in the promoters of target
            genes. The non-DNA-binding isoforms are largely found in the
            cytoplasm, and are thought to function as dominant-negative
            factors. Overexpression of some dominant-negative isoforms have
            been associated with B-cell malignancies, such as acute
            lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014].
            
            Transcript Variant: This variant (14) differs in the 5' UTR, and
            lacks an alternate in-frame exon in the central coding region,
            compared to variant 1. The encoded isoform (2, also known as Ikx)
            is shorter than isoform 1, and it contains three N-terminal zinc
            finger motifs for high affinity DNA binding (PMID:11489963). Both
            variants 2 and 14 encode isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC018349.1, AK308411.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..477
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p12.2"
     Protein         1..477
                     /product="DNA-binding protein Ikaros isoform 2"
                     /note="zinc finger protein, subfamily 1A, 1 (Ikaros);
                     DNA-binding protein Ikaros; CLL-associated antigen KW-6;
                     ikaros family zinc finger protein 1; protein phosphatase
                     1, regulatory subunit 92; lymphoid transcription factor
                     LyF-1"
                     /calculated_mol_wt=52575
     Region          119..139
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(124,126,128,130..131,134..135,138,152,154,158..159,
                     162..163,166,180,182,184,186..187,190..191,194)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          132..156
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          147..167
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          159..184
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          175..195
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..477
                     /gene="IKZF1"
                     /gene_synonym="CVID13; Hs.54452; IK1; IKAROS; LyF-1; LYF1;
                     PPP1R92; PRO0758; ZNFN1A1"
                     /coded_by="NM_001291837.2:222..1655"
                     /note="isoform 2 is encoded by transcript variant 14"
                     /db_xref="CCDS:CCDS59055.1"
                     /db_xref="GeneID:10320"
                     /db_xref="HGNC:HGNC:13176"
                     /db_xref="MIM:603023"
ORIGIN      
        1 mdadegqdms qvsgkesppv sdtpdegdep mpipedlstt sggqqssksd rvvasnvkve
       61 tqsdeengra cemngeecae dlrmldasge kmngshrdqg ssalsgvggi rlpngklkcd
      121 icgiicigpn vlmvhkrsht gerpfqcnqc gasftqkgnl lrhiklhsge kpfkchlcny
      181 acrrrdaltg hlrthsvike etnhsemaed lckigsersl vldrlasnva krkssmpqkf
      241 lgdkglsdtp ydssasyeke nemmkshvmd qainnainyl gaeslrplvq tppggsevvp
      301 vispmyqlhk plaegtprsn hsaqdsaven llllskaklv psereaspsn scqdstdtes
      361 nneeqrsgli yltnhiapha rnglslkeeh raydllraas ensqdalrvv stsgeqmkvy
      421 kcehcrvlfl dhvmytihmg chgfrdpfec nmcgyhsqdr yefsshitrg ehrfhms
//
LOCUS       NP_001310923             536 aa            linear   PRI 10-APR-2023
DEFINITION  catenin alpha-1 isoform 5 [Homo sapiens].
ACCESSION   NP_001310923
VERSION     NP_001310923.1
DBSOURCE    REFSEQ: accession NM_001323994.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 536)
  AUTHORS   Rangarajan ES, Smith EW and Izard T.
  TITLE     Distinct inter-domain interactions of dimeric versus monomeric
            alpha-catenin link cell junctions to filaments
  JOURNAL   Commun Biol 6 (1), 276 (2023)
   PUBMED   36928388
  REMARK    GeneRIF: Distinct inter-domain interactions of dimeric versus
            monomeric alpha-catenin link cell junctions to filaments.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 536)
  AUTHORS   Coudert M, Drouet Y, Delhomelle H, Svrcek M, Benusiglio PR, Coulet
            F, Clark DF, Katona BW, van Hest LP, van der Kolk LE, Cats A, van
            Dieren JM, Nehoray B, Slavin T, Spier I, Huneburg R, Lobo S,
            Oliveira C, Boussemart L, Masson L, Chiesa J, Schwartz M, Buecher
            B, Golmard L, Bouvier AM, Bonadona V, Stoppa-Lyonnet D, Lasset C
            and Colas C.
  TITLE     First estimates of diffuse gastric cancer risks for carriers of
            CTNNA1 germline pathogenic variants
  JOURNAL   J Med Genet 59 (12), 1189-1195 (2022)
   PUBMED   36038258
  REMARK    GeneRIF: First estimates of diffuse gastric cancer risks for
            carriers of CTNNA1 germline pathogenic variants.
REFERENCE   3  (residues 1 to 536)
  AUTHORS   Carneiro F.
  TITLE     Familial and hereditary gastric cancer, an overview
  JOURNAL   Best Pract Res Clin Gastroenterol 58-59, 101800 (2022)
   PUBMED   35988963
  REMARK    GeneRIF: Familial and hereditary gastric cancer, an overview.
            Review article
REFERENCE   4  (residues 1 to 536)
  AUTHORS   Kim M, Park J, Bouhaddou M, Kim K, Rojc A, Modak M, Soucheray M,
            McGregor MJ, O'Leary P, Wolf D, Stevenson E, Foo TK, Mitchell D,
            Herrington KA, Munoz DP, Tutuncuoglu B, Chen KH, Zheng F, Kreisberg
            JF, Diolaiti ME, Gordan JD, Coppe JP, Swaney DL, Xia B, van 't Veer
            L, Ashworth A, Ideker T and Krogan NJ.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   5  (residues 1 to 536)
  AUTHORS   Lobo S, Benusiglio PR, Coulet F, Boussemart L, Golmard L, Spier I,
            Huneburg R, Aretz S, Colas C and Oliveira C.
  TITLE     Cancer predisposition and germline CTNNA1 variants
  JOURNAL   Eur J Med Genet 64 (10), 104316 (2021)
   PUBMED   34425242
  REMARK    GeneRIF: Cancer predisposition and germline CTNNA1 variants.
REFERENCE   6  (residues 1 to 536)
  AUTHORS   Sacco PA, McGranahan TM, Wheelock MJ and Johnson KR.
  TITLE     Identification of plakoglobin domains required for association with
            N-cadherin and alpha-catenin
  JOURNAL   J Biol Chem 270 (34), 20201-20206 (1995)
   PUBMED   7650039
REFERENCE   7  (residues 1 to 536)
  AUTHORS   Knudsen KA, Soler AP, Johnson KR and Wheelock MJ.
  TITLE     Interaction of alpha-actinin with the cadherin/catenin cell-cell
            adhesion complex via alpha-catenin
  JOURNAL   J Cell Biol 130 (1), 67-77 (1995)
   PUBMED   7790378
REFERENCE   8  (residues 1 to 536)
  AUTHORS   Aberle H, Butz S, Stappert J, Weissig H, Kemler R and Hoschuetzky
            H.
  TITLE     Assembly of the cadherin-catenin complex in vitro with recombinant
            proteins
  JOURNAL   J Cell Sci 107 (Pt 12), 3655-3663 (1994)
   PUBMED   7706414
REFERENCE   9  (residues 1 to 536)
  AUTHORS   Herrenknecht K, Ozawa M, Eckerskorn C, Lottspeich F, Lenter M and
            Kemler R.
  TITLE     The uvomorulin-anchorage protein alpha catenin is a vinculin
            homologue
  JOURNAL   Proc Natl Acad Sci U S A 88 (20), 9156-9160 (1991)
   PUBMED   1924379
REFERENCE   10 (residues 1 to 536)
  AUTHORS   Nagafuchi A, Takeichi M and Tsukita S.
  TITLE     The 102 kd cadherin-associated protein: similarity to vinculin and
            posttranscriptional regulation of expression
  JOURNAL   Cell 65 (5), 849-857 (1991)
   PUBMED   1904011
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011405.6.
            
            Summary: This gene encodes a member of the catenin family of
            proteins that play an important role in cell adhesion process by
            connecting cadherins located on the plasma membrane to the actin
            filaments inside the cell. The encoded mechanosensing protein
            contains three vinculin homology domains and undergoes
            conformational changes in response to cytoskeletal tension,
            resulting in the reconfiguration of cadherin-actin filament
            connections. Certain mutations in this gene cause butterfly-shaped
            pigment dystrophy. [provided by RefSeq, May 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.39917.1,
                                           SRR1660809.38767.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267782, SAMN03465402
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..536
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     Protein         1..536
                     /product="catenin alpha-1 isoform 5"
                     /note="alpha-E-catenin; renal carcinoma antigen NY-REN-13;
                     catenin (cadherin-associated protein), alpha 1, 102kDa;
                     epididymis secretory sperm binding protein"
                     /calculated_mol_wt=59419
     Region          <1..497
                     /region_name="Vinculin"
                     /note="Vinculin family; pfam01044"
                     /db_xref="CDD:395830"
     CDS             1..536
                     /gene="CTNNA1"
                     /gene_synonym="CAP102; MDBS2; MDPT2"
                     /coded_by="NM_001323994.1:256..1866"
                     /note="isoform 5 is encoded by transcript variant 18"
                     /db_xref="CCDS:CCDS75315.1"
                     /db_xref="GeneID:1495"
                     /db_xref="HGNC:HGNC:2509"
                     /db_xref="MIM:116805"
ORIGIN      
        1 mtkktrdlrr qlrkavmdhv sdsfletnvp llvlieaakn gnekevkeya qvfrehankl
       61 ievanlacsi snneegvklv rmsasqleal cpqvinaala laakpqskla qenmdlfkeq
      121 wekqvrvltd avdditsidd flavsenhil edvnkcvial qekdvdgldr tagairgraa
      181 rvihvvtsem dnyepgvyte kvleatklls ntvmprfteq veaavealss dpaqpmdene
      241 fidasrlvyd girdirkavl mirtpeeldd sdfetedfdv rsrtsvqted dqliagqsar
      301 aimaqlpqeq kakiaeqvas fqeeksklda evskwddsgn diivlakqmc mimmemtdft
      361 rgkgplknts dvisaakkia eagsrmdklg rtiadhcpds ackqdllayl qrialychql
      421 nicskvkaev qnlggelvvs gvdsamsliq aaknlmnavv qtvkasyvas tkyqksqgma
      481 slnlpavswk mkapekkplv krekqdetqt kikrasqkkh vnpvqalsef kamdsi
//
LOCUS       NP_001005201             312 aa            linear   PRI 22-DEC-2022
DEFINITION  olfactory receptor 8H3 [Homo sapiens].
ACCESSION   NP_001005201 XP_372391
VERSION     NP_001005201.1
DBSOURCE    REFSEQ: accession NM_001005201.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 312)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC068339.6.
            On Sep 22, 2004 this sequence version replaced XP_372391.1.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313472.3/ ENSP00000323928.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..312
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     Protein         1..312
                     /product="olfactory receptor 8H3"
                     /note="olfactory receptor OR11-172"
                     /calculated_mol_wt=35088
     Site            6
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N146.1)"
     Region          26..303
                     /region_name="7tmA_OR8H-like"
                     /note="olfactory receptor subfamily 8H and related
                     proteins, member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15411"
                     /db_xref="CDD:320533"
     Region          27..53
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320533"
     Site            27..47
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N146.1)"
     Site            56..76
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N146.1)"
     Region          60..86
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320533"
     Site            order(82,85..86,97..102,104..105,108,153,155..159,195,
                     198..200,202..204,206..207,252,255..256,258..259,262,
                     268..269,271..273,276,279..280)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320533"
     Region          97..127
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320533"
     Site            100..120
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N146.1)"
     Region          140..161
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320533"
     Site            140..160
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N146.1)"
     Region          195..225
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320533"
     Site            198..217
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N146.1)"
     Region          232..262
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320533"
     Site            238..258
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N146.1)"
     Region          269..294
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320533"
     Site            272..292
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N146.1)"
     CDS             1..312
                     /gene="OR8H3"
                     /gene_synonym="OR11-172"
                     /coded_by="NM_001005201.1:1..939"
                     /db_xref="CCDS:CCDS31519.1"
                     /db_xref="GeneID:390152"
                     /db_xref="HGNC:HGNC:15309"
ORIGIN      
        1 mmgrrndtnv adfiltglsd seevqmalfm lflliylitm lgnvgmllii rldlqlhtpm
       61 yfflthlsfi dlsystvvtp ktlanlltsn yisftgcfaq mfcfvflgta ecyllssmay
      121 dryaaicspl hytvimpkrl clalitgpyv igfmdsfvnv vsmsrlhfcd sniihhffcd
      181 tspilalsct dtdntemlif iiagstlmvs litisasyvs ilstilkins tsgkqkafst
      241 cvshllgvti fygtmiftyl kprksyslgr dqvapvfyti vipmlnpliy slrnrevkna
      301 lirvmqrrqd sr
//
LOCUS       NP_006744                361 aa            linear   PRI 24-DEC-2022
DEFINITION  surfeit locus protein 6 isoform 1 [Homo sapiens].
ACCESSION   NP_006744
VERSION     NP_006744.2
DBSOURCE    REFSEQ: accession NM_006753.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 361)
  AUTHORS   Moraleva AA, Malysheva MA, Khajdukov SV and Zatsepina OV.
  TITLE     A Higher Level of Expression of the Nucleolar Protein SURF6 in
            Human Normal Activated Lymphocytes and in Lymphocytes of Patients
            with Lymphoproliferative Disorders
  JOURNAL   Dokl Biochem Biophys 494 (1), 261-265 (2020)
   PUBMED   33119830
  REMARK    GeneRIF: A Higher Level of Expression of the Nucleolar Protein
            SURF6 in Human Normal Activated Lymphocytes and in Lymphocytes of
            Patients with Lymphoproliferative Disorders.
REFERENCE   2  (residues 1 to 361)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 361)
  AUTHORS   Mitrea DM, Cika JA, Stanley CB, Nourse A, Onuchic PL, Banerjee PR,
            Phillips AH, Park CG, Deniz AA and Kriwacki RW.
  TITLE     Self-interaction of NPM1 modulates multiple mechanisms of
            liquid-liquid phase separation
  JOURNAL   Nat Commun 9 (1), 842 (2018)
   PUBMED   29483575
  REMARK    GeneRIF: NPM1 and SURF6 form heterotypic liquid-like droplets in
            the nucleolus.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 361)
  AUTHORS   Hauri S, Comoglio F, Seimiya M, Gerstung M, Glatter T, Hansen K,
            Aebersold R, Paro R, Gstaiger M and Beisel C.
  TITLE     A High-Density Map for Navigating the Human Polycomb Complexome
  JOURNAL   Cell Rep 17 (2), 583-595 (2016)
   PUBMED   27705803
REFERENCE   5  (residues 1 to 361)
  AUTHORS   Kordiukova,M.Iu., Polzikov,M.A., Shishova,K.V. and Zatsepina,O.V.
  TITLE     [Identification of the protein partners of the human nucleolar
            protein SURF6 in HeLa cells by GST pull-down assay]
  JOURNAL   Bioorg Khim 40 (4), 421-432 (2014)
   PUBMED   25898752
  REMARK    GeneRIF: the panel of the GST-Surf6-dom protein partners, which
            were identified by mass-spectrometry, points to putative
            interactions of human SURF6 with a number of nuclear and nucleolar
            proteins of other functional groups
REFERENCE   6  (residues 1 to 361)
  AUTHORS   Magoulas C and Fried M.
  TITLE     Isolation and genomic analysis of the human surf-6 gene: a member
            of the Surfeit locus
  JOURNAL   Gene 243 (1-2), 115-123 (2000)
   PUBMED   10675619
REFERENCE   7  (residues 1 to 361)
  AUTHORS   Duhig T, Ruhrberg C, Mor O and Fried M.
  TITLE     The human Surfeit locus
  JOURNAL   Genomics 52 (1), 72-78 (1998)
   PUBMED   9740673
REFERENCE   8  (residues 1 to 361)
  AUTHORS   Magoulas C, Zatsepina OV, Jordan PW, Jordan EG and Fried M.
  TITLE     The SURF-6 protein is a component of the nucleolar matrix and has a
            high binding capacity for nucleic acids in vitro
  JOURNAL   Eur J Cell Biol 75 (2), 174-183 (1998)
   PUBMED   9548374
REFERENCE   9  (residues 1 to 361)
  AUTHORS   Magoulas C and Fried M.
  TITLE     The Surf-6 gene of the mouse surfeit locus encodes a novel
            nucleolar protein
  JOURNAL   DNA Cell Biol 15 (4), 305-316 (1996)
   PUBMED   8639267
REFERENCE   10 (residues 1 to 361)
  AUTHORS   Yon J, Jones T, Garson K, Sheer D and Fried M.
  TITLE     The organization and conservation of the human Surfeit gene cluster
            and its localization telomeric to the c-abl and can proto-oncogenes
            at chromosome band 9q34.1
  JOURNAL   Hum Mol Genet 2 (3), 237-240 (1993)
   PUBMED   8499913
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD104374.1, BC003001.1,
            CB158198.1 and AL772161.10.
            On Mar 20, 2002 this sequence version replaced NP_006744.1.
            
            Summary: This gene encodes a conserved protein that is localized to
            the nucleolus. The encoded protein may function as a
            nucleolar-matrix protein with nucleic acid-binding properties.
            There is a pseudogene for this gene on chromosome Y. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.101935.1,
                                           SRR1803614.251090.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2151119
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372022.6/ ENSP00000361092.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..361
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.2"
     Protein         1..361
                     /product="surfeit locus protein 6 isoform 1"
                     /note="surfeit locus protein 6"
                     /calculated_mol_wt=41319
     Region          20..106
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75683.3)"
     Region          45..49
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O75683.3)"
     Site            74
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17924679,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75683.3)"
     Region          125..230
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75683.3)"
     Site            138
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75683.3)"
     Region          154..158
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O75683.3)"
     Region          166..318
                     /region_name="SURF6"
                     /note="Surfeit locus protein 6; pfam04935"
                     /db_xref="CDD:428207"
     Site            229
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75683.3)"
     Region          299..334
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75683.3)"
     CDS             1..361
                     /gene="SURF6"
                     /gene_synonym="RRP14"
                     /coded_by="NM_006753.6:57..1142"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS6962.1"
                     /db_xref="GeneID:6838"
                     /db_xref="HGNC:HGNC:11478"
                     /db_xref="MIM:185642"
ORIGIN      
        1 masllakday lqslakkics hsapeqqart ragktqgset agppkkkrkk tqkkfrkree
       61 kaaehkaksl gekspaasga rrpeaakeea awasssagnp adglatepes vfaldvlrqr
      121 lhekiqearg qgsakelspa alekrrrrkq erdrkkrkrk elrakekark aeeateaqev
      181 veatpegact epreppglif nkvevsedep askaqrrkek rqrvkgnltp ltgrnyrqll
      241 erlqarqsrl delrgqdegk aqeleakmkw tnllykaegv kirdderllq ealkrkekrr
      301 aqrqrrwekr tagvvekmqq rqdrrrqnlr rkkaaraerr llrarkkgri lpqdleragl
      361 v
//
LOCUS       NP_001352644             777 aa            linear   PRI 24-DEC-2022
DEFINITION  DISP complex protein LRCH3 isoform 3 [Homo sapiens].
ACCESSION   NP_001352644 XP_006713854
VERSION     NP_001352644.1
DBSOURCE    REFSEQ: accession NM_001365715.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 777)
  AUTHORS   O'Loughlin T, Masters TA and Buss F.
  TITLE     The MYO6 interactome reveals adaptor complexes coordinating early
            endosome and cytoskeletal dynamics
  JOURNAL   EMBO Rep 19 (4) (2018)
   PUBMED   29467281
REFERENCE   2  (residues 1 to 777)
  AUTHORS   Foussard H, Ferrer P, Valenti P, Polesello C, Carreno S and Payre
            F.
  TITLE     LRCH proteins: a novel family of cytoskeletal regulators
  JOURNAL   PLoS One 5 (8), e12257 (2010)
   PUBMED   20805893
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 777)
  AUTHORS   Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S,
            Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett
            JR, Langeberg LK, Scott JD and Pawson T.
  TITLE     Proteomic, functional, and domain-based analysis of in vivo 14-3-3
            binding proteins involved in cytoskeletal regulation and cellular
            organization
  JOURNAL   Curr Biol 14 (16), 1436-1450 (2004)
   PUBMED   15324660
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC055764.23, AC144530.11 and AC135893.2.
            On Sep 13, 2018 this sequence version replaced XP_006713854.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.270987.1,
                                           DRR138517.141128.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000425562.7/ ENSP00000393579.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..777
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q29"
     Protein         1..777
                     /product="DISP complex protein LRCH3 isoform 3"
                     /note="leucine-rich repeat and calponin homology
                     domain-containing protein 3; leucine-rich repeats and
                     calponin homology (CH) domain containing 3; DISP complex
                     protein LRCH3"
                     /calculated_mol_wt=85953
     Region          56..290
                     /region_name="Mediates interaction with DOCK7.
                     /evidence=ECO:0000269|PubMed:29467281"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96II8.2)"
     Region          61..83
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <77..>285
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:227223"
     Region          84..106
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          107..129
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          130..145
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          152..174
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          175..197
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          198..218
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          220..242
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          243..261
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Site            324
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96II8.2)"
     Region          382..648
                     /region_name="Mediates direct interaction with MYO6.
                     /evidence=ECO:0000269|PubMed:29467281"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96II8.2)"
     Site            415
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19367720,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q96II8.2)"
     Site            419
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96II8.2)"
     Region          568..590
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96II8.2)"
     Site            611
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96II8.2)"
     Region          621..653
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96II8.2)"
     Site            628
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96II8.2)"
     Region          657..765
                     /region_name="CH_LRCH3"
                     /note="calponin homology (CH) domain found in leucine-rich
                     repeat and calponin homology domain-containing protein 3;
                     cd21272"
                     /db_xref="CDD:409121"
     Site            order(658,662,717,719..720,723..724,726,736..744,750,
                     752..753,755..756,759..760,763)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409121"
     CDS             1..777
                     /gene="LRCH3"
                     /coded_by="NM_001365715.1:26..2359"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS93456.1"
                     /db_xref="GeneID:84859"
                     /db_xref="HGNC:HGNC:28637"
ORIGIN      
        1 maaaglvava aaaeysgtva sggnlpgvhc gpssgagpgf gpgswsrsld raleeaavtg
       61 vlslsgrklr efprgaanhd ltdttradls rnrlseipie achfvslenl nlyqnciryi
      121 peailnlqal tflnisrnql stlpvhlcnl plkvliasnn klvslpeeig hlrhlmeldv
      181 scneiqtips qignlealrd lnvrrnhlvh lpeelaelpl irldfscnki ttipvcyrnl
      241 rhlqtitldn nplqsppaqi cikgkvhifk ylniqackia pdlpdydrrp lgfgscheel
      301 yssrpygald sgfnsvdsgd krwsgneptd efsdlplrva eitkeqrlrr esqyqenrgs
      361 lvvtnggveh dldqidyids ctaeeeeaev rqpkgpdpds lssqfmayie qrrishegsp
      421 vkpvairefq ktedmrrylh qnrvpaepss llslsashnq lshtdlelhq rreqlvertr
      481 reaqlaalqy eeekirtkqi qrdavldfvk qkasqspqkq hplldgvdge cpfpsrrsqh
      541 tddsalcmsl sglnqvgcaa tlphssaftp lksddrpnal lsspatetvh hspaysfpaa
      601 iqrnqpqrpe sflfragvra etnkghaspl ppsaapttds tdsitgqnsr qreeelelid
      661 qlrkhieyrl kvslpcdlga altdgvvlch lanhvrprsv psihvpspav pkltmakcrr
      721 nvenfleacr kigvpqeqlc lplhileekg lsqvavtvqa llelappkqq qhqlsav
//
LOCUS       NP_004934                674 aa            linear   PRI 24-DEC-2022
DEFINITION  dystrophia myotonica WD repeat-containing protein [Homo sapiens].
ACCESSION   NP_004934 XP_496318
VERSION     NP_004934.1
DBSOURCE    REFSEQ: accession NM_004943.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 674)
  AUTHORS   Santoro M, Masciullo M, Silvestri G, Novelli G and Botta A.
  TITLE     Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions
            within DMPK alleles in the pathogenesis and molecular diagnosis
  JOURNAL   Clin Genet 92 (4), 355-364 (2017)
   PUBMED   27991661
  REMARK    Review article
REFERENCE   2  (residues 1 to 674)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   3  (residues 1 to 674)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   4  (residues 1 to 674)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A,
            Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel
            S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA,
            Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J,
            Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M,
            Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W,
            Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V,
            Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready
            P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S,
            Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer
            J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D,
            Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo
            N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS,
            DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA,
            Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM and Lucas
            SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
REFERENCE   5  (residues 1 to 674)
  AUTHORS   Wansink DG and Wieringa B.
  TITLE     Transgenic mouse models for myotonic dystrophy type 1 (DM1)
  JOURNAL   Cytogenet Genome Res 100 (1-4), 230-242 (2003)
   PUBMED   14526185
  REMARK    Review article
REFERENCE   6  (residues 1 to 674)
  AUTHORS   Groenen P and Wieringa B.
  TITLE     Expanding complexity in myotonic dystrophy
  JOURNAL   Bioessays 20 (11), 901-912 (1998)
   PUBMED   9872056
  REMARK    Review article
REFERENCE   7  (residues 1 to 674)
  AUTHORS   Jansen G, Bachner D, Coerwinkel M, Wormskamp N, Hameister H and
            Wieringa B.
  TITLE     Structural organization and developmental expression pattern of the
            mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic
            dystrophy locus
  JOURNAL   Hum Mol Genet 4 (5), 843-852 (1995)
   PUBMED   7633444
REFERENCE   8  (residues 1 to 674)
  AUTHORS   Shaw DJ, McCurrach M, Rundle SA, Harley HG, Crow SR, Sohn R,
            Thirion JP, Hamshere MG, Buckler AJ, Harper PS et al.
  TITLE     Genomic organization and transcriptional units at the myotonic
            dystrophy locus
  JOURNAL   Genomics 18 (3), 673-679 (1993)
   PUBMED   7905855
REFERENCE   9  (residues 1 to 674)
  AUTHORS   Mahadevan MS, Amemiya C, Jansen G, Sabourin L, Baird S, Neville CE,
            Wormskamp N, Segers B, Batzer M, Lamerdin J et al.
  TITLE     Structure and genomic sequence of the myotonic dystrophy (DM
            kinase) gene
  JOURNAL   Hum Mol Genet 2 (3), 299-304 (1993)
   PUBMED   8499920
REFERENCE   10 (residues 1 to 674)
  AUTHORS   Jansen G, Mahadevan M, Amemiya C, Wormskamp N, Segers B, Hendriks
            W, O'Hoy K, Baird S, Sabourin L, Lennon G et al.
  TITLE     Characterization of the myotonic dystrophy region predicts multiple
            protein isoform-encoding mRNAs
  JOURNAL   Nat Genet 1 (4), 261-266 (1992)
   PUBMED   1302022
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011530.6, BM922103.1, L19267.1, BG106514.1, BC019266.1,
            CD106470.1, BX283745.1, BC041034.1 and BQ189202.1.
            On Apr 29, 2005 this sequence version replaced XP_496318.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: L19267.1, ERR3218378.45696.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000270223.7/ ENSP00000270223.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..674
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     Protein         1..674
                     /product="dystrophia myotonica WD repeat-containing
                     protein"
                     /note="protein 59; dystrophia myotonica-containing WD
                     repeat motif protein; dystrophia myotonica, WD repeat
                     containing"
                     /calculated_mol_wt=70307
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q09019.3)"
     Region          31..92
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09019.3)"
     Region          86..156
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09019.3)"
     Region          103..122
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09019.3)"
     Region          <139..379
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          157..202
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09019.3)"
     Region          203..274
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09019.3)"
     Region          217..282
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          275..316
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09019.3)"
     Region          <284..>378
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          287..322
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          317..394
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09019.3)"
     Region          330..363
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          384..419
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09019.3)"
     Region          395..444
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09019.3)"
     Region          456..516
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09019.3)"
     Site            495
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q09019.3)"
     Region          532..573
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09019.3)"
     Site            551
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q08274; propagated from
                     UniProtKB/Swiss-Prot (Q09019.3)"
     Region          637..674
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09019.3)"
     CDS             1..674
                     /gene="DMWD"
                     /gene_synonym="D19S593E; DMR-N9; DMRN9; gene59"
                     /coded_by="NM_004943.2:90..2114"
                     /db_xref="CCDS:CCDS33054.1"
                     /db_xref="GeneID:1762"
                     /db_xref="HGNC:HGNC:2936"
                     /db_xref="MIM:609857"
ORIGIN      
        1 maaggaeggs gpgaamgdca eiksqfrtre gfykllpgdg aarrsgpasa qtpvppqppq
       61 pppgpasasg pgaagpassp ppagpgpgpa lpavrlslvr lgepdsagag eppatpaglg
      121 sggdrvcfnl grelyfypgc crrgsqrsid lnkpidkriy kgtqptchdf nqftaateti
      181 sllvgfsagq vqyldlikkd tsklfneerl idktkvtylk wlpeseslfl ashasghlyl
      241 ynvshpcasa ppqysllkqg egfsvyaaks kaprnplakw avgegplnef afspdgrhla
      301 cvsqdgclrv fhfdsmllrg lmksyfggll cvcwspdgry vvtggeddlv tvwsftegrv
      361 varghghksw vnavafdpyt traeeaataa gadgersgee eeeepeaagt gsaggaplsp
      421 lpkagsityr fgsagqdtqf clwdltedvl yphpplartr tlpgtpgttp paasssrgge
      481 pgpgplprsl srsnslphpa gggkaggpgv aaepgtpfsi grfatltlqe rrdrgaekeh
      541 kryhslgnis rggsggsgsg gekpsgpvpr srldpakvlg talcprihev plleplvckk
      601 iaqerltvll fledciitac qeglictwar pgkaftdeet eaqtgegswp rspsksvveg
      661 issqpgnsps gtvv
//
LOCUS       NP_776170                142 aa            linear   PRI 25-DEC-2022
DEFINITION  biogenesis of lysosome-related organelles complex 1 subunit 2
            isoform 1 [Homo sapiens].
ACCESSION   NP_776170
VERSION     NP_776170.2
DBSOURCE    REFSEQ: accession NM_173809.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 142)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 142)
  AUTHORS   Yordanov TE, Hipolito VEB, Liebscher G, Vogel GF, Stasyk T,
            Herrmann C, Geley S, Teis D, Botelho RJ, Hess MW and Huber LA.
  TITLE     Biogenesis of lysosome-related organelles complex-1 (BORC)
            regulates late endosomal/lysosomal size through PIKfyve-dependent
            phosphatidylinositol-3,5-bisphosphate
  JOURNAL   Traffic 20 (9), 674-696 (2019)
   PUBMED   31314175
REFERENCE   3  (residues 1 to 142)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (residues 1 to 142)
  AUTHORS   Pu J, Schindler C, Jia R, Jarnik M, Backlund P and Bonifacino JS.
  TITLE     BORC, a multisubunit complex that regulates lysosome positioning
  JOURNAL   Dev Cell 33 (2), 176-188 (2015)
   PUBMED   25898167
REFERENCE   5  (residues 1 to 142)
  AUTHORS   Blandin G, Marchand S, Charton K, Daniele N, Gicquel E, Boucheteil
            JB, Bentaib A, Barrault L, Stockholm D, Bartoli M and Richard I.
  TITLE     A human skeletal muscle interactome centered on proteins involved
            in muscular dystrophies: LGMD interactome
  JOURNAL   Skelet Muscle 3 (1), 3 (2013)
   PUBMED   23414517
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 142)
  AUTHORS   Wang Z, Wei H, Yu Y, Sun J, Yang Y, Xing G, Wu S, Zhou Y, Zhu Y,
            Zhang C, Zhou T, Zhao X, Sun Q and He F.
  TITLE     Characterization of Ceap-11 and Ceap-16, two novel
            splicing-variant-proteins, associated with centrosome, microtubule
            aggregation and cell proliferation
  JOURNAL   J Mol Biol 343 (1), 71-82 (2004)
   PUBMED   15381421
REFERENCE   7  (residues 1 to 142)
  AUTHORS   Starcevic M and Dell'Angelica EC.
  TITLE     Identification of snapin and three novel proteins (BLOS1, BLOS2,
            and BLOS3/reduced pigmentation) as subunits of biogenesis of
            lysosome-related organelles complex-1 (BLOC-1)
  JOURNAL   J Biol Chem 279 (27), 28393-28401 (2004)
   PUBMED   15102850
  REMARK    GeneRIF: Biogenesis of lysosome-related organelles complex-1
            (BLOC-1) subunit 2 (BLOS2).BLOC-1 is required for the biogenesis of
            melanosomes and platelet dense granules.
REFERENCE   8  (residues 1 to 142)
  AUTHORS   Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL,
            Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA,
            Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF,
            Paylor RE and Swank RT.
  TITLE     Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant
            dysbindin, a member of the biogenesis of lysosome-related
            organelles complex 1 (BLOC-1)
  JOURNAL   Nat Genet 35 (1), 84-89 (2003)
   PUBMED   12923531
REFERENCE   9  (residues 1 to 142)
  AUTHORS   Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS
            and Peters LL.
  TITLE     Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a
            novel protein that is part of the pallidin-muted complex (BLOC-1)
  JOURNAL   Blood 101 (11), 4402-4407 (2003)
   PUBMED   12576321
REFERENCE   10 (residues 1 to 142)
  AUTHORS   Moriyama K and Bonifacino JS.
  TITLE     Pallidin is a component of a multi-protein complex involved in the
            biogenesis of lysosome-related organelles
  JOURNAL   Traffic 3 (9), 666-677 (2002)
   PUBMED   12191018
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB118026.1, AK298969.1, AL138921.14 and BX112121.1.
            On Apr 29, 2004 this sequence version replaced NP_776170.1.
            
            Summary: This gene encodes a protein with multiple functions. The
            encoded protein has been found in association with the centrosome,
            shown to co-localize with gamma-tubulin, and also found to be one
            of the proteins in the BLOC-1 complex which functions in the
            formation of lysosome-related organelles. A pseudogene of this gene
            is located on the X chromosome. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Feb 2012].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3580307.1,
                                           SRR1803615.185866.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2142348,
                                           SAMEA2148093 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370372.7/ ENSP00000359398.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..142
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     Protein         1..142
                     /product="biogenesis of lysosome-related organelles
                     complex 1 subunit 2 isoform 1"
                     /note="centrosome protein oncogene; biogenesis of
                     lysosome-related organelles complex 1 subunit 2;
                     centrosomal 10 kDa protein; BLOC-1 subunit 2; 11 kDa
                     centrosome associated protein"
                     /calculated_mol_wt=15830
     Region          1..33
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6QNY1.1)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (Q6QNY1.1)"
     Region          46..137
                     /region_name="BLOC1_2"
                     /note="Biogenesis of lysosome-related organelles complex-1
                     subunit 2; pfam10046"
                     /db_xref="CDD:431013"
     CDS             1..142
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; BORCS2; CEAP; CEAP11"
                     /coded_by="NM_173809.5:22..450"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7490.1"
                     /db_xref="GeneID:282991"
                     /db_xref="HGNC:HGNC:20984"
                     /db_xref="MIM:609768"
ORIGIN      
        1 maaaaegvla trsdepardd aavetaeeak epaeaditel crdmfskmat yltgeltats
       61 edykllenmn kltslkylem kdiainisrn lkdlnqkyag lqpyldqinv ieeqvaaleq
      121 aaykldaysk kleakykkle kr
//
LOCUS       NP_001739                700 aa            linear   PRI 25-DEC-2022
DEFINITION  calpain-2 catalytic subunit isoform 1 [Homo sapiens].
ACCESSION   NP_001739
VERSION     NP_001739.3
DBSOURCE    REFSEQ: accession NM_001748.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 700)
  AUTHORS   Martins AC, Rieck M, Leotti VB, Saraiva-Pereira ML and Jardim LB.
  TITLE     Variants in Genes of Calpain System as Modifiers of Spinocerebellar
            Ataxia Type 3 Phenotype
  JOURNAL   J Mol Neurosci 71 (9), 1906-1913 (2021)
   PUBMED   34191270
  REMARK    GeneRIF: Variants in Genes of Calpain System as Modifiers of
            Spinocerebellar Ataxia Type 3 Phenotype.
REFERENCE   2  (residues 1 to 700)
  AUTHORS   Rodriguez-Fernandez L, Company S, Zaragoza R, Vina JR and
            Garcia-Trevijano ER.
  TITLE     Cleavage and activation of LIM kinase 1 as a novel mechanism for
            calpain 2-mediated regulation of nuclear dynamics
  JOURNAL   Sci Rep 11 (1), 16339 (2021)
   PUBMED   34381117
  REMARK    GeneRIF: Cleavage and activation of LIM kinase 1 as a novel
            mechanism for calpain 2-mediated regulation of nuclear dynamics.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 700)
  AUTHORS   Shinkai-Ouchi F, Shindo M, Doi N, Hata S and Ono Y.
  TITLE     Calpain-2 participates in the process of calpain-1 inactivation
  JOURNAL   Biosci Rep 40 (11) (2020)
   PUBMED   33078830
  REMARK    GeneRIF: Calpain-2 participates in the process of calpain-1
            inactivation.
REFERENCE   4  (residues 1 to 700)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 700)
  AUTHORS   Feng R, Du W, Lui P, Zhang J and Liu Y.
  TITLE     CAPN2 acts as an indicator of hepatitis B virus to induce hepatic
            fibrosis
  JOURNAL   J Cell Biochem 121 (3), 2428-2436 (2020)
   PUBMED   31680308
  REMARK    GeneRIF: CAPN2 acts as an indicator of hepatitis B virus to induce
            hepatic fibrosis.
REFERENCE   6  (residues 1 to 700)
  AUTHORS   Adachi Y, Kitahara-Ozawa A, Sugamura K, Lee WJ, Yodoi J, Maki M,
            Murachi T and Hatanaka M.
  TITLE     Expression of calpain II gene in human hematopoietic system cells
            infected with human T-cell leukemia virus type I
  JOURNAL   J Biol Chem 267 (27), 19373-19378 (1992)
   PUBMED   1527057
REFERENCE   7  (residues 1 to 700)
  AUTHORS   Ohno S, Minoshima S, Kudoh J, Fukuyama R, Shimizu Y, Ohmi-Imajoh S,
            Shimizu N and Suzuki K.
  TITLE     Four genes for the calpain family locate on four distinct human
            chromosomes
  JOURNAL   Cytogenet Cell Genet 53 (4), 225-229 (1990)
   PUBMED   2209092
REFERENCE   8  (residues 1 to 700)
  AUTHORS   Hata A, Ohno S, Akita Y and Suzuki K.
  TITLE     Tandemly reiterated negative enhancer-like elements regulate
            transcription of a human gene for the large subunit of
            calcium-dependent protease
  JOURNAL   J Biol Chem 264 (11), 6404-6411 (1989)
   PUBMED   2539381
REFERENCE   9  (residues 1 to 700)
  AUTHORS   Imajoh S, Aoki K, Ohno S, Emori Y, Kawasaki H, Sugihara H and
            Suzuki K.
  TITLE     Molecular cloning of the cDNA for the large subunit of the
            high-Ca2+-requiring form of human Ca2+-activated neutral protease
  JOURNAL   Biochemistry 27 (21), 8122-8128 (1988)
   PUBMED   2852952
REFERENCE   10 (residues 1 to 700)
  AUTHORS   Kopp,S.
  TITLE     Reproducibility of response to a questionnaire on symptoms of
            masticatory dysfunction
  JOURNAL   Community Dent Oral Epidemiol 4 (5), 205-209 (1976)
   PUBMED   1067155
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099065.2 and AC096542.2.
            On Nov 22, 2018 this sequence version replaced NP_001739.2.
            
            Summary: The calpains, calcium-activated neutral proteases, are
            nonlysosomal, intracellular cysteine proteases. The mammalian
            calpains include ubiquitous, stomach-specific, and muscle-specific
            proteins. The ubiquitous enzymes consist of heterodimers with
            distinct large, catalytic subunits associated with a common small,
            regulatory subunit. This gene encodes the large subunit of the
            ubiquitous enzyme, calpain 2. Multiple heterogeneous
            transcriptional start sites in the 5' UTR have been reported. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Mar 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF261089.1, SRR1660805.157304.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295006.6/ ENSP00000295006.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..700
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q41"
     Protein         1..700
                     /product="calpain-2 catalytic subunit isoform 1"
                     /EC_number="3.4.22.53"
                     /note="calpain, large polypeptide L2; calpain 2, large
                     subunit; calpain 2, large [catalytic] subunit; calpain-2
                     catalytic subunit; calpain M-type; M-calpain;
                     millimolar-calpain; CANP 2; calcium-activated neutral
                     proteinase 2; calpain 2, (m/II) large subunit"
                     /calculated_mol_wt=79865
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P17655.6)"
     Region          46..342
                     /region_name="Peptidase_C2"
                     /note="Calpain family cysteine protease; pfam00648"
                     /db_xref="CDD:425798"
     Site            order(105,262,286)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:238004"
     Region          345..514
                     /region_name="Domain III"
                     /note="propagated from UniProtKB/Swiss-Prot (P17655.6)"
     Region          354..512
                     /region_name="Calpain_III"
                     /note="Calpain, subdomain III. Calpains are
                     calcium-activated cytoplasmic cysteine proteinases,
                     participate in cytoskeletal remodeling processes, cell
                     differentiation, apoptosis and signal transduction.
                     Catalytic domain and the two calmodulin-like domains
                     are...; cd00214"
                     /db_xref="CDD:238132"
     Site            order(392..394,405)
                     /site_type="other"
                     /note="acidic loop"
                     /db_xref="CDD:238132"
     Region          515..529
                     /region_name="Linker"
                     /note="propagated from UniProtKB/Swiss-Prot (P17655.6)"
     Region          530..700
                     /region_name="Domain IV"
                     /note="propagated from UniProtKB/Swiss-Prot (P17655.6)"
     Region          533..700
                     /region_name="EFh_PEF_CAPN2"
                     /note="Penta-EF hand, calcium binding motifs, found in
                     m-type calpain (CAPN2); cd16199"
                     /db_xref="CDD:320074"
     Site            order(533..561,566..573,576..636,642..670,672..700)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:320074"
     Region          533..561
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320074"
     Site            order(545,547,552,570,585,587,589,596,615,617,619,626,658,
                     660..661)
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:320074"
     Region          576..605
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320074"
     Region          606..636
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320074"
     Region          642..670
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320074"
     Region          672..700
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320074"
     CDS             1..700
                     /gene="CAPN2"
                     /gene_synonym="CANP2; CANPL2; CANPml; mCANP"
                     /coded_by="NM_001748.5:103..2205"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS31035.1"
                     /db_xref="GeneID:824"
                     /db_xref="HGNC:HGNC:1479"
                     /db_xref="MIM:114230"
ORIGIN      
        1 magiaaklak dreaaeglgs hdraikylnq dyealrnecl eagtlfqdps fpaipsalgf
       61 kelgpysskt rgiewkrpte icadpqfiig gatrtdicqg algdcwllaa iasltlneei
      121 larvvplnqs fqenyagifh fqfwqygewv evvvddrlpt kdgellfvhs aegsefwsal
      181 lekayaking cyealsggat tegfedftgg iaewyelkkp ppnlfkiiqk alqkgsllgc
      241 siditsaads eaitfqklvk ghaysvtgae evesngslqk lirirnpwge vewtgrwndn
      301 cpswntidpe ererltrrhe dgefwmsfsd flrhysrlei cnltpdtlts dtykkwkltk
      361 mdgnwrrgst aggcrnypnt fwmnpqylik leeededeed gesgctflvg liqkhrrrqr
      421 kmgedmhtig fgiyevpeel sgqtnihlsk nffltnrare rsdtfinlre vlnrfklppg
      481 eyilvpstfe pnkdgdfcir vfsekkadyq avddeieanl eefdiseddi ddgfrrlfaq
      541 lagedaeisa felqtilrrv lakrqdiksd gfsietckim vdmldsdgsg klglkefyil
      601 wtkiqkyqki yreidvdrsg tmnsyemrka leeagfkmpc qlhqvivarf addqliidfd
      661 nfvrclvrle tlfkifkqld pentgtield liswlcfsvl
//
LOCUS       NP_060867                594 aa            linear   PRI 25-DEC-2022
DEFINITION  choline dehydrogenase, mitochondrial [Homo sapiens].
ACCESSION   NP_060867
VERSION     NP_060867.2
DBSOURCE    REFSEQ: accession NM_018397.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 594)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 594)
  AUTHORS   Chang H, Li L, Peng T, Grigoroiu-Serbanescu M, Bergen SE, Landen M,
            Hultman CM, Forstner AJ, Strohmaier J, Hecker J, Schulze TG,
            Muller-Myhsok B, Reif A, Mitchell PB, Martin NG, Cichon S, Nothen
            MM, Jamain S, Leboyer M, Bellivier F, Etain B, Kahn JP, Henry C,
            Rietschel M, Xiao X and Li M.
  CONSRTM   Swedish Bipolar Study Group; MooDS Consortium
  TITLE     Identification of a Bipolar Disorder Vulnerable Gene CHDH at 3p21.1
  JOURNAL   Mol Neurobiol 54 (7), 5166-5176 (2017)
   PUBMED   27562178
  REMARK    GeneRIF: CHDH gene is located at chromosome 3p21.1, a risk region
            implicated in previous brains of bipolar disorder genome-wide
            association studies
REFERENCE   3  (residues 1 to 594)
  AUTHORS   Jaiswal SK, Sukla KK, Chauhan A, Lakhotia AR, Kumar A and Rai AK.
  TITLE     Choline metabolic pathway gene polymorphisms and risk for Down
            syndrome: An association study in a population with
            folate-homocysteine metabolic impairment
  JOURNAL   Eur J Clin Nutr 71 (1), 45-50 (2017)
   PUBMED   27677362
  REMARK    GeneRIF: In genotypic combination analysis considering PEMT
            -744GG/CHDH +432GG/BHMT +742GG as the reference combination, PEMT
            -744GC/CHDH +432GG/BHMT +742GG genotypic combination was
            significantly higher in mothers of a down syndrome child compared
            with that in control mothers with an odds ratio of 2.061 (95% CI:
            1.10-3.86, P=0.0342).
REFERENCE   4  (residues 1 to 594)
  AUTHORS   Drews K, Rozycka A, Barlik M, Klejewski A, Kurzawinska G, Wolski H,
            Majchrzycki M, Gryszczynska A, Kaminski A and Seremak-Mrozikiewicz
            A.
  TITLE     Polymorphic variants of genes involved in choline pathway and the
            risk of intrauterine fetal death
  JOURNAL   Ginekol Pol 88 (4), 205-211 (2017)
   PUBMED   28509322
  REMARK    GeneRIF: There is no correlation between single CHDH rs893363 and
            CHDH rs2289205 polymorphisms and the incidence of intrauterine
            fetal death.
REFERENCE   5  (residues 1 to 594)
  AUTHORS   Park S, Choi SG, Yoo SM, Son JH and Jung YK.
  TITLE     Choline dehydrogenase interacts with SQSTM1/p62 to recruit LC3 and
            stimulate mitophagy
  JOURNAL   Autophagy 10 (11), 1906-1920 (2014)
   PUBMED   25483962
  REMARK    GeneRIF: CHDH is not a substrate of PARK2 but interacts with SQSTM1
            independently of PARK2 to recruit SQSTM1 into depolarized
            mitochondria
REFERENCE   6  (residues 1 to 594)
  AUTHORS   Mostowska A, Hozyasz KK, Wojcicki P, Dziegelewska M and Jagodzinski
            PP.
  TITLE     Associations of folate and choline metabolism gene polymorphisms
            with orofacial clefts
  JOURNAL   J Med Genet 47 (12), 809-815 (2010)
   PUBMED   19737740
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   7  (residues 1 to 594)
  AUTHORS   Kumar J, Garg G, Kumar A, Sundaramoorthy E, Sanapala KR, Ghosh S,
            Karthikeyan G, Ramakrishnan L and Sengupta S.
  CONSRTM   Indian Genome Variation Consortium
  TITLE     Single nucleotide polymorphisms in homocysteine metabolism pathway
            genes: association of CHDH A119C and MTHFR C677T with
            hyperhomocysteinemia
  JOURNAL   Circ Cardiovasc Genet 2 (6), 599-606 (2009)
   PUBMED   20031640
  REMARK    GeneRIF: CHDH A119C and MTHFR C677T play an important role in
            modulating the homocysteine levels in Indian population.
REFERENCE   8  (residues 1 to 594)
  AUTHORS   Xu X, Gammon MD, Zeisel SH, Lee YL, Wetmur JG, Teitelbaum SL,
            Bradshaw PT, Neugut AI, Santella RM and Chen J.
  TITLE     Choline metabolism and risk of breast cancer in a population-based
            study
  JOURNAL   FASEB J 22 (6), 2045-2052 (2008)
   PUBMED   18230680
  REMARK    GeneRIF: single nucleotide polymorphisms of choline-metabolizing
            genes, PEMT -774G>C (rs12325817) and CHDH +432G>T (rs12676), were
            found be related to breast cancer risk
            GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   9  (residues 1 to 594)
  AUTHORS   Wang Z, Dahiya S, Provencher H, Muir B, Carney E, Coser K, Shioda
            T, Ma XJ and Sgroi DC.
  TITLE     The prognostic biomarkers HOXB13, IL17BR, and CHDH are regulated by
            estrogen in breast cancer
  JOURNAL   Clin Cancer Res 13 (21), 6327-6334 (2007)
   PUBMED   17975144
  REMARK    GeneRIF: HOXB13, IL17BR, and CHDH are regulated by estrogen in
            breast cancer
REFERENCE   10 (residues 1 to 594)
  AUTHORS   da Costa KA, Kozyreva OG, Song J, Galanko JA, Fischer LM and Zeisel
            SH.
  TITLE     Common genetic polymorphisms affect the human requirement for the
            nutrient choline
  JOURNAL   FASEB J 20 (9), 1336-1344 (2006)
   PUBMED   16816108
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012467.9, CN285856.1,
            BC034502.1, AJ272267.1 and BE856786.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 11, 2008 this sequence version replaced NP_060867.1.
            
            Summary: The protein encoded by this gene is a choline
            dehydrogenase that localizes to the mitochondrion. Variations in
            this gene can affect susceptibility to choline deficiency. A few
            transcript variants have been found for this gene, but the
            full-length nature of only one has been characterized to date.
            [provided by RefSeq, Dec 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.179502.1,
                                           SRR1803611.232946.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000315251.11/
                                                  ENSP00000319851.5
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..594
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.1"
     Protein         1..594
                     /product="choline dehydrogenase, mitochondrial"
                     /EC_number="1.1.99.1"
                     /note="CDH; CHD"
                     /calculated_mol_wt=65228
     Region          40..594
                     /region_name="PRK02106"
                     /note="choline dehydrogenase; Validated"
                     /db_xref="CDD:235000"
     Site            484
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BJ64; propagated from
                     UniProtKB/Swiss-Prot (Q8NE62.2)"
     Site            496
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BJ64; propagated from
                     UniProtKB/Swiss-Prot (Q8NE62.2)"
     Site            580
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8BJ64; propagated from
                     UniProtKB/Swiss-Prot (Q8NE62.2)"
     CDS             1..594
                     /gene="CHDH"
                     /coded_by="NM_018397.5:468..2252"
                     /db_xref="CCDS:CCDS2873.1"
                     /db_xref="GeneID:55349"
                     /db_xref="HGNC:HGNC:24288"
ORIGIN      
        1 mwcllrglgr pgalargalg qqqslgaral asagsesrde ysyvvvgags agcvlagrlt
       61 edpaervlll eagpkdvlag skrlswkihm paalvanlcd drynwcyhte vqrgldgrvl
      121 ywprgrvwgg ssslnamvyv rghaedyerw qrqgargwdy ahclpyfrka qghelgasry
      181 rgadgplrvs rgktnhplhc afleatqqag ypltedmngf qqegfgwmdm tihegkrwsa
      241 acaylhpals rtnlkaeaet lvsrvlfegt ravgveyvkn gqshrayask evilsggain
      301 spqllmlsgi gnaddlkklg ipvvchlpgv gqnlqdhlei yiqqactrpi tlhsaqkplr
      361 kvciglewlw kftgegatah letggfirsq pgvphpdiqf hflpsqvidh grvptqqeay
      421 qvhvgpmrgt svgwlklrsa npqdhpviqp nylstetdie dfrlcvkltr eifaqealap
      481 frgkelqpgs hiqsdkeida fvrakadsay hpsctckmgq psdptavvdp qtrvlgvenl
      541 rvvdasimps mvsgnlnapt imiaekaadi ikgqpalwdk dvpvykprtl atqr
//
LOCUS       NP_863656                329 aa            linear   PRI 26-DEC-2022
DEFINITION  cytosolic acyl coenzyme A thioester hydrolase isoform hBACHd [Homo
            sapiens].
ACCESSION   NP_863656
VERSION     NP_863656.1
DBSOURCE    REFSEQ: accession NM_181866.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 329)
  AUTHORS   St Clair LA, Mills SA, Lian E, Soma PS, Nag A, Montgomery C,
            Ramirez G, Chotiwan N, Gullberg RC and Perera R.
  TITLE     Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty
            Acids Modulates Dengue Virus Serotype 2 Replication
  JOURNAL   Viruses 14 (2), 240 (2022)
   PUBMED   35215835
  REMARK    GeneRIF: Acyl-Coa Thioesterases: A Rheostat That Controls Activated
            Fatty Acids Modulates Dengue Virus Serotype 2 Replication.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 329)
  AUTHORS   Feng H and Liu X.
  TITLE     Interaction between ACOT7 and LncRNA NMRAL2P via Methylation
            Regulates Gastric Cancer Progression
  JOURNAL   Yonsei Med J 61 (6), 471-481 (2020)
   PUBMED   32469171
  REMARK    GeneRIF: NMRAL2P activation suppresses ACOT7 expression in gastric
            cancer.
REFERENCE   3  (residues 1 to 329)
  AUTHORS   Zhang X, Liu B, Zhang J, Yang X, Zhang G, Yang S, Wang J, Shi J, Hu
            K, Wang J, Jing H, Ke X and Fu L.
  TITLE     Expression level of ACOT7 influences the prognosis in acute myeloid
            leukemia patients
  JOURNAL   Cancer Biomark 26 (4), 441-449 (2019)
   PUBMED   31640082
  REMARK    GeneRIF: Patients in high ACOT7 group had a significant lower EFS
            and OS, while patients in high versus low expression levels of
            other types of ACOT showed no significant difference on the outcome
REFERENCE   4  (residues 1 to 329)
  AUTHORS   Lee HC, Jung SH, Hwang HJ, Kang D, De S, Dudekula DB, Martindale
            JL, Park B, Park SK, Lee EK, Lee JH, Jeong S, Han K, Park HJ, Ko
            YG, Gorospe M and Lee JS.
  TITLE     WIG1 is crucial for AGO2-mediated ACOT7 mRNA silencing via
            miRNA-dependent and -independent mechanisms
  JOURNAL   Nucleic Acids Res 45 (11), 6894-6910 (2017)
   PUBMED   28472401
  REMARK    GeneRIF: WIG1 governs the miRNA-dependent and the miRNA-independent
            recruitment of AGO2 to lower the stability of and suppress the
            translation of ACOT7 mRNA.
REFERENCE   5  (residues 1 to 329)
  AUTHORS   Jung SH, Lee HC, Hwang HJ, Park HA, Moon YA, Kim BC, Lee HM, Kim
            KP, Kim YN, Lee BL, Lee JC, Ko YG, Park HJ and Lee JS.
  TITLE     Acyl-CoA thioesterase 7 is involved in cell cycle progression via
            regulation of PKCzeta-p53-p21 signaling pathway
  JOURNAL   Cell Death Dis 8 (5), e2793 (2017)
   PUBMED   28518146
  REMARK    GeneRIF: PKCzeta was specifically involved in ACOT7
            depletion-mediated cell cycle arrest as an upstream molecule of the
            p53-p21 signaling pathway in MCF7 human breast carcinoma and A549
            human lung carcinoma cells.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 329)
  AUTHORS   Hunt MC, Yamada J, Maltais LJ, Wright MW, Podesta EJ and Alexson
            SE.
  TITLE     A revised nomenclature for mammalian acyl-CoA
            thioesterases/hydrolases
  JOURNAL   J Lipid Res 46 (9), 2029-2032 (2005)
   PUBMED   16103133
REFERENCE   7  (residues 1 to 329)
  AUTHORS   Yamada J.
  TITLE     Long-chain acyl-CoA hydrolase in the brain
  JOURNAL   Amino Acids 28 (3), 273-278 (2005)
   PUBMED   15731883
  REMARK    Review article
REFERENCE   8  (residues 1 to 329)
  AUTHORS   Yang JW, Czech T, Yamada J, Csaszar E, Baumgartner C, Slavc I and
            Lubec G.
  TITLE     Aberrant cytosolic acyl-CoA thioester hydrolase in hippocampus of
            patients with mesial temporal lobe epilepsy
  JOURNAL   Amino Acids 27 (3-4), 269-275 (2004)
   PUBMED   15592755
  REMARK    GeneRIF: BACH was deranged in hippocampus of mesial temporal lobe
            epilepsy patients.
REFERENCE   9  (residues 1 to 329)
  AUTHORS   Yamada J, Kuramochi Y, Takagi M, Watanabe T and Suga T.
  TITLE     Human brain acyl-CoA hydrolase isoforms encoded by a single gene
  JOURNAL   Biochem Biophys Res Commun 299 (1), 49-56 (2002)
   PUBMED   12435388
  REMARK    GeneRIF: the human BACH gene can express long-chain acyl-CoA
            hydrolase activity in multiple intracellular compartments by
            generating BACH isoforms with differential localization signals to
            affect various cellular functions that involve acyl-CoAs
REFERENCE   10 (residues 1 to 329)
  AUTHORS   Yamada J, Kurata A, Hirata M, Taniguchi T, Takama H, Furihata T,
            Shiratori K, Iida N, Takagi-Sakuma M, Watanabe T, Kurosaki K, Endo
            T and Suga T.
  TITLE     Purification, molecular cloning, and genomic organization of human
            brain long-chain acyl-CoA hydrolase
  JOURNAL   J Biochem 126 (6), 1013-1019 (1999)
   PUBMED   10578051
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ067921.1, AB074419.1 and
            BC017365.2.
            
            Summary: This gene encodes a member of the acyl coenzyme family.
            The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA
            and other long-chain fatty acids. Decreased expression of this gene
            may be associated with mesial temporal lobe epilepsy. Alternatively
            spliced transcript variants encoding distinct isoforms with
            different subcellular locations have been characterized. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (hBACHd) differs in the 5' UTR and
            5' coding region, compared to variant hBACHb. It encodes isoform
            hBACHd that has a shorter and distinct N-terminus lacking a
            mitochondrial targetting sequence, compared to isoform hBACHb.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK291583.1, AB074419.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..329
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.31"
     Protein         1..329
                     /product="cytosolic acyl coenzyme A thioester hydrolase
                     isoform hBACHd"
                     /EC_number="3.1.2.2"
                     /note="cytosolic acyl coenzyme A thioester hydrolase;
                     brain acyl-CoA hydrolase; long chain acyl-CoA thioester
                     hydrolase; acyl-CoA thioesterase, long chain; acyl-CoA
                     thioesterase 2; CTE-IIa"
                     /calculated_mol_wt=36437
     Region          3..112
                     /region_name="BFIT_BACH"
                     /note="Brown fat-inducible thioesterase (BFIT). Brain
                     acyl-CoA hydrolase (BACH). These enzymes deacylate
                     long-chain fatty acids by hydrolyzing acyl-CoA thioesters
                     to free fatty acids and CoA-SH. Eukaryotic members of this
                     family are expressed in brain, testis; cd03442"
                     /db_xref="CDD:239526"
     Region          171..294
                     /region_name="BFIT_BACH"
                     /note="Brown fat-inducible thioesterase (BFIT). Brain
                     acyl-CoA hydrolase (BACH). These enzymes deacylate
                     long-chain fatty acids by hydrolyzing acyl-CoA thioesters
                     to free fatty acids and CoA-SH. Eukaryotic members of this
                     family are expressed in brain, testis; cd03442"
                     /db_xref="CDD:239526"
     CDS             1..329
                     /gene="ACOT7"
                     /gene_synonym="ACH1; ACT; BACH; CTE-II; hBACH; LACH;
                     LACH1"
                     /coded_by="NM_181866.3:85..1074"
                     /note="isoform hBACHd is encoded by transcript variant
                     hBACHd"
                     /db_xref="CCDS:CCDS67.1"
                     /db_xref="GeneID:11332"
                     /db_xref="HGNC:HGNC:24157"
                     /db_xref="MIM:602587"
ORIGIN      
        1 mafqlsrimr pddanvagnv hggtilkmie eagaiistrh cnsqngercv aalarvertd
       61 flspmcigev ahvsaeityt skhsvevqvn vmseniltga kkltnkatlw yvplslknvd
      121 kvlevppvvy srqeqeeegr kryeaqkler metkwrngdi vqpvlnpepn tvsysqssli
      181 hlvgpsdctl hgfvhggvtm klmdevagiv aarhcktniv tasvdainfh dkirkgcvit
      241 isgrmtftsn ksmeievlvd adpvvdssqk ryraasafft yvslsqegrs lpvpqlvpet
      301 edekkrfeeg kgrylqmkak rqghaepqp
//
LOCUS       NP_001313507             261 aa            linear   PRI 26-DEC-2022
DEFINITION  syntaxin-7 isoform a [Homo sapiens].
ACCESSION   NP_001313507
VERSION     NP_001313507.1
DBSOURCE    REFSEQ: accession NM_001326578.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 261)
  AUTHORS   Parveen S, Khamari A, Raju J, Coppolino MG and Datta S.
  TITLE     Syntaxin 7 contributes to breast cancer cell invasion by promoting
            invadopodia formation
  JOURNAL   J Cell Sci 135 (12) (2022)
   PUBMED   35762511
  REMARK    GeneRIF: Syntaxin 7 contributes to breast cancer cell invasion by
            promoting invadopodia formation.
REFERENCE   2  (residues 1 to 261)
  AUTHORS   Miao G, Zhao H, Li Y, Ji M, Chen Y, Shi Y, Bi Y, Wang P and Zhang
            H.
  TITLE     ORF3a of the COVID-19 virus SARS-CoV-2 blocks HOPS complex-mediated
            assembly of the SNARE complex required for autolysosome formation
  JOURNAL   Dev Cell 56 (4), 427-442 (2021)
   PUBMED   33422265
REFERENCE   3  (residues 1 to 261)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 261)
  AUTHORS   Inoue H, Matsuzaki Y, Tanaka A, Hosoi K, Ichimura K, Arasaki K,
            Wakana Y, Asano K, Tanaka M, Okuzaki D, Yamamoto A, Tani K and
            Tagaya M.
  TITLE     gamma-SNAP stimulates disassembly of endosomal SNARE complexes and
            regulates endocytic trafficking pathways
  JOURNAL   J Cell Sci 128 (15), 2781-2794 (2015)
   PUBMED   26101353
REFERENCE   5  (residues 1 to 261)
  AUTHORS   Pirooz SD, He S, Zhang T, Zhang X, Zhao Z, Oh S, O'Connell D,
            Khalilzadeh P, Amini-Bavil-Olyaee S, Farzan M and Liang C.
  TITLE     UVRAG is required for virus entry through combinatorial interaction
            with the class C-Vps complex and SNAREs
  JOURNAL   Proc Natl Acad Sci U S A 111 (7), 2716-2721 (2014)
   PUBMED   24550300
REFERENCE   6  (residues 1 to 261)
  AUTHORS   Nakamura N, Yamamoto A, Wada Y and Futai M.
  TITLE     Syntaxin 7 mediates endocytic trafficking to late endosomes
  JOURNAL   J Biol Chem 275 (9), 6523-6529 (2000)
   PUBMED   10692457
REFERENCE   7  (residues 1 to 261)
  AUTHORS   Prekeris R, Yang B, Oorschot V, Klumperman J and Scheller RH.
  TITLE     Differential roles of syntaxin 7 and syntaxin 8 in endosomal
            trafficking
  JOURNAL   Mol Biol Cell 10 (11), 3891-3908 (1999)
   PUBMED   10564279
REFERENCE   8  (residues 1 to 261)
  AUTHORS   Steegmaier M, Yang B, Yoo JS, Huang B, Shen M, Yu S, Luo Y and
            Scheller RH.
  TITLE     Three novel proteins of the syntaxin/SNAP-25 family
  JOURNAL   J Biol Chem 273 (51), 34171-34179 (1998)
   PUBMED   9852078
REFERENCE   9  (residues 1 to 261)
  AUTHORS   Wong SH, Xu Y, Zhang T and Hong W.
  TITLE     Syntaxin 7, a novel syntaxin member associated with the early
            endosomal compartment
  JOURNAL   J Biol Chem 273 (1), 375-380 (1998)
   PUBMED   9417091
REFERENCE   10 (residues 1 to 261)
  AUTHORS   Wang H, Frelin L and Pevsner J.
  TITLE     Human syntaxin 7: a Pep12p/Vps6p homologue implicated in vesicle
            trafficking to lysosomes
  JOURNAL   Gene 199 (1-2), 39-48 (1997)
   PUBMED   9358037
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL589691.4 and AL357034.18.
            
            Summary: The protein encoded by this gene is a syntaxin family
            membrane receptor involved in vesicle transport. The encoded
            protein binds alpha-SNAP, an important regulator of transport
            vesicle fusion. Along with syntaxin 13, this protein plays a role
            in the ordered fusion of endosomes and lysosomes with the
            phagosome. [provided by RefSeq, May 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Variants 1, 2, and 3
            all encode the same isoform (a).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2223292.1,
                                           SRR14038197.2056109.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..261
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.2"
     Protein         1..261
                     /product="syntaxin-7 isoform a"
                     /calculated_mol_wt=29684
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:12665801,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378, ECO:0007744|PubMed:25944712;
                     propagated from UniProtKB/Swiss-Prot (O15400.4)"
     Site            4
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O15400.4)"
     Site            order(12,19,84..85,88..89,92,95..96,102,105,136)
                     /site_type="active"
                     /note="nSec1 interaction sites [active]"
                     /db_xref="CDD:238105"
     Region          18..119
                     /region_name="Syntaxin_2"
                     /note="Syntaxin-like protein; pfam14523"
                     /db_xref="CDD:434013"
     Site            order(39,49,52..53,60,64,67,74,90,95,98,104,111..112,
                     115..116,118..119,122,146)
                     /site_type="active"
                     /note="interdomain interaction site [active]"
                     /db_xref="CDD:238105"
     Site            45
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O15400.4)"
     Site            75
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O15400.4)"
     Site            79
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:O70439; propagated from
                     UniProtKB/Swiss-Prot (O15400.4)"
     Site            125
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O70439; propagated from
                     UniProtKB/Swiss-Prot (O15400.4)"
     Site            126
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O15400.4)"
     Site            order(128..138,145..148)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238105"
     Region          129..148
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15400.4)"
     Site            129
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O15400.4)"
     Region          168..227
                     /region_name="SNARE_syntaxin7"
                     /note="SNARE motif of syntaxin 7; cd15875"
                     /db_xref="CDD:277228"
     Site            order(171..172,174..176,178..179,181..183,185..186,
                     188..193,195..197,199..200,202..204,206..207,209..214,
                     216..221,223..225)
                     /site_type="other"
                     /note="heterotetramer interface [polypeptide binding]"
                     /db_xref="CDD:277228"
     Site            199
                     /site_type="other"
                     /note="zero layer"
                     /db_xref="CDD:277228"
     Site            205
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O15400.4)"
     Site            239..259
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O15400.4)"
     CDS             1..261
                     /gene="STX7"
                     /coded_by="NM_001326578.2:316..1101"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5153.1"
                     /db_xref="GeneID:8417"
                     /db_xref="HGNC:HGNC:11442"
                     /db_xref="MIM:603217"
ORIGIN      
        1 msytpgvggd paqlaqriss niqkitqcsv eiqrtlnqlg tpqdspelrq qlqqkqqytn
       61 qlaketdkyi kefgslpttp seqrqrkiqk drlvaeftts ltnfqkvqrq aaerekefva
      121 rvrassrvsg sfpedssker nlvswesqtq pqvqvqdeei teddlrlihe ressirqlea
      181 dimdineifk dlgmmiheqg dvidsieanv enaevhvqqa nqqlsraady qrksrktlci
      241 iililvigva iisliiwgln h
//
LOCUS       NP_009089                767 aa            linear   PRI 27-DEC-2022
DEFINITION  cold shock domain-containing protein E1 isoform 2 [Homo sapiens].
ACCESSION   NP_009089
VERSION     NP_009089.4
DBSOURCE    REFSEQ: accession NM_007158.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 767)
  AUTHORS   Smith GA, Padmanabhan A, Lau BH, Pampana A, Li L, Lee CY, Pelonero
            A, Nishino T, Sadagopan N, Xia VQ, Jain R, Natarajan P, Wu RS,
            Black BL, Srivastava D, Shokat KM and Chorba JS.
  TITLE     Cold shock domain-containing protein E1 is a posttranscriptional
            regulator of the LDL receptor
  JOURNAL   Sci Transl Med 14 (662), eabj8670 (2022)
   PUBMED   36103516
  REMARK    GeneRIF: Cold shock domain-containing protein E1 is a
            posttranscriptional regulator of the LDL receptor.
REFERENCE   2  (residues 1 to 767)
  AUTHORS   Kim Y, Ko JY, Lee SB, Oh S, Park JW, Kang HG, Kim DH, Chung D, Lim
            S, Kong H, Kim J, Yoo KH, Han W, Chun KH and Park JH.
  TITLE     Reduced miR-371b-5p expression drives tumor progression via
            CSDE1/RAC1 regulation in triple-negative breast cancer
  JOURNAL   Oncogene 41 (22), 3151-3161 (2022)
   PUBMED   35490208
  REMARK    GeneRIF: Reduced miR-371b-5p expression drives tumor progression
            via CSDE1/RAC1 regulation in triple-negative breast cancer.
REFERENCE   3  (residues 1 to 767)
  AUTHORS   Avolio R, Ingles-Ferrandiz M, Ciocia A, Coll O, Bonnin S, Guitart
            T, Ribo A and Gebauer F.
  TITLE     Coordinated post-transcriptional control of oncogene-induced
            senescence by UNR/CSDE1
  JOURNAL   Cell Rep 38 (2), 110211 (2022)
   PUBMED   35021076
  REMARK    GeneRIF: Coordinated post-transcriptional control of
            oncogene-induced senescence by UNR/CSDE1.
REFERENCE   4  (residues 1 to 767)
  AUTHORS   Kottke T, Tonne J, Evgin L, Driscoll CB, van Vloten J, Jennings VA,
            Huff AL, Zell B, Thompson JM, Wongthida P, Pulido J, Schuelke MR,
            Samson A, Selby P, Ilett E, McNiven M, Roberts LR, Borad MJ, Pandha
            H, Harrington K, Melcher A and Vile RG.
  TITLE     Oncolytic virotherapy induced CSDE1 neo-antigenesis restricts VSV
            replication but can be targeted by immunotherapy
  JOURNAL   Nat Commun 12 (1), 1930 (2021)
   PUBMED   33772027
  REMARK    GeneRIF: Oncolytic virotherapy induced CSDE1 neo-antigenesis
            restricts VSV replication but can be targeted by immunotherapy.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 767)
  AUTHORS   He W, Azzi-Martin L, Velasco V, Lehours P, Dubus P,
            Djavaheri-Mergny M and Menard A.
  TITLE     The CDT of Helicobacter hepaticus induces pro-survival autophagy
            and nucleoplasmic reticulum formation concentrating the RNA binding
            proteins UNR/CSDE1 and P62/SQSTM1
  JOURNAL   PLoS Pathog 17 (3), e1009320 (2021)
   PUBMED   33662035
  REMARK    GeneRIF: The CDT of Helicobacter hepaticus induces pro-survival
            autophagy and nucleoplasmic reticulum formation concentrating the
            RNA binding proteins UNR/CSDE1 and P62/SQSTM1.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 767)
  AUTHORS   Grosset C, Chen CY, Xu N, Sonenberg N, Jacquemin-Sablon H and Shyu
            AB.
  TITLE     A mechanism for translationally coupled mRNA turnover: interaction
            between the poly(A) tail and a c-fos RNA coding determinant via a
            protein complex
  JOURNAL   Cell 103 (1), 29-40 (2000)
   PUBMED   11051545
REFERENCE   7  (residues 1 to 767)
  AUTHORS   Hunt SL, Hsuan JJ, Totty N and Jackson RJ.
  TITLE     unr, a cellular cytoplasmic RNA-binding protein with five
            cold-shock domains, is required for internal initiation of
            translation of human rhinovirus RNA
  JOURNAL   Genes Dev 13 (4), 437-448 (1999)
   PUBMED   10049359
REFERENCE   8  (residues 1 to 767)
  AUTHORS   Boussadia O, Jacquemin-Sablon H and Dautry F.
  TITLE     Exon skipping in the expression of the gene immediately upstream of
            N-ras (unr/NRU)
  JOURNAL   Biochim Biophys Acta 1172 (1-2), 64-72 (1993)
   PUBMED   8439573
REFERENCE   9  (residues 1 to 767)
  AUTHORS   Nicolaiew N, Triqueneaux G and Dautry F.
  TITLE     Organization of the human N-ras locus: characterization of a gene
            located immediately upstream of N-ras
  JOURNAL   Oncogene 6 (5), 721-730 (1991)
   PUBMED   2052355
REFERENCE   10 (residues 1 to 767)
  AUTHORS   Jeffers M, Paciucci R and Pellicer A.
  TITLE     Characterization of unr; a gene closely linked to N-ras
  JOURNAL   Nucleic Acids Res 18 (16), 4891-4899 (1990)
   PUBMED   2204029
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP202324.1, BC032446.1, AB020692.1 and BU681634.1.
            On Nov 29, 2004 this sequence version replaced NP_009089.3.
            
            Transcript Variant: This variant (2) lacks two alternate coding
            exons compared to variant 4. The resulting isoform (2) is shorter
            at the N-terminus and lacks an internal segment compared to isoform
            4. Variants 2 and 6 both encode isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.36186.1,
                                           SRR1803616.262647.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..767
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     Protein         1..767
                     /product="cold shock domain-containing protein E1 isoform
                     2"
                     /note="upstream of NRAS; NRAS-related; cold shock
                     domain-containing protein E1; cold shock domain containing
                     E1, RNA binding; N-ras upstream gene protein"
                     /calculated_mol_wt=85616
     Region          26..90
                     /region_name="S1_like"
                     /note="Ribosomal protein S1-like RNA-binding domain. Found
                     in a wide variety of RNA-associated proteins. Originally
                     identified in S1 ribosomal protein. This superfamily also
                     contains the Cold Shock Domain (CSD), which is a homolog
                     of the S1 domain. Both domains...; cl09927"
                     /db_xref="CDD:447859"
     Region          155..217
                     /region_name="CSD"
                     /note="'Cold-shock' DNA-binding domain; pfam00313"
                     /db_xref="CDD:278729"
     Site            order(161,168,179,207)
                     /site_type="DNA binding"
                     /note="DNA-binding site [nucleotide binding]"
                     /db_xref="CDD:239905"
     Site            order(166..171,178..181)
                     /site_type="active"
                     /note="RNA-binding motif [active]"
                     /db_xref="CDD:239905"
     Region          319..382
                     /region_name="CSP"
                     /note="Cold shock protein domain; smart00357"
                     /db_xref="CDD:214633"
     Region          490..551
                     /region_name="S1_like"
                     /note="Ribosomal protein S1-like RNA-binding domain. Found
                     in a wide variety of RNA-associated proteins. Originally
                     identified in S1 ribosomal protein. This superfamily also
                     contains the Cold Shock Domain (CSD), which is a homolog
                     of the S1 domain. Both domains...; cl09927"
                     /db_xref="CDD:447859"
     Site            order(499..504,511..514)
                     /site_type="active"
                     /note="RNA-binding motif [active]"
                     /db_xref="CDD:239905"
     Region          643..707
                     /region_name="CSD"
                     /note="'Cold-shock' DNA-binding domain; pfam00313"
                     /db_xref="CDD:278729"
     Region          725..757
                     /region_name="SUZ-C"
                     /note="SUZ-C motif; pfam12901"
                     /db_xref="CDD:432865"
     CDS             1..767
                     /gene="CSDE1"
                     /gene_synonym="D1S155E; UNR"
                     /coded_by="NM_007158.6:448..2751"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS30811.1"
                     /db_xref="GeneID:7812"
                     /db_xref="HGNC:HGNC:29905"
                     /db_xref="MIM:191510"
ORIGIN      
        1 msfdpnllhn nghngypngt saalretgvi eklltsygfi qcserqarlf fhcsqyngnl
       61 qdlkvgddve fevssdrrtg kpiavklvki kqeilpeerm ngqevfylty tpedvegnvq
      121 letgdkinfv idnnkhtgav sarnimllkk kqarcqgvvc amkeafgfie rgdvvkeiff
      181 hysefkgdle tlqpgddvef tikdrngkev atdvrllpqg tvifedisie hfegtvtkvi
      241 pkvpsknqnd plpgrikvdf vipkelpfgd kdtkskvtll egdhvrfnis tdrrdklera
      301 tnievlsntf qftnearemg viaamrdgfg fikcvdrdvr mffhfseild gnqlhiadev
      361 eftvvpdmls aqrnhairik klpkgtvsfh shsdhrflgt vekeatfsnp kttspnkgke
      421 keaedgiiay ddcgvkltia fqakdvegst spqigdkvef sisdkqrpgq qvatcvrllg
      481 rnsnskrllg yvatlkdnfg fietanhdke iffhysefsg dvdslelgdm veyslskgkg
      541 nkvsaekvnk thsvngitee adptiysgkv irplrsvdpt qteyqgmiei veegdmkgev
      601 ypfgivgman kgdclqkges vkfqlcvlgq naqtmaynit plrratvecv kdqfgfinye
      661 vgdskklffh vkevqdgiel qagdevefsv ilnqrtgkcs acnvwrvceg pkavaaprpd
      721 rlvnrlknit lddasaprlm vlrqprgpdn smgfgaerki rqagvid
//
LOCUS       NP_001365220             250 aa            linear   PRI 29-DEC-2022
DEFINITION  E3 ubiquitin-protein ligase RNF13 isoform 4 [Homo sapiens].
ACCESSION   NP_001365220 XP_016861149
VERSION     NP_001365220.1
DBSOURCE    REFSEQ: accession NM_001378291.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 250)
  AUTHORS   Huang D, Liu Y, Gao L, Wei X, Xu Y, Cai R and Su Q.
  TITLE     MiR-32-3p Regulates Myocardial Injury Induced by Microembolism and
            Microvascular Obstruction by Targeting RNF13 to Regulate the
            Stability of Atherosclerotic Plaques
  JOURNAL   J Cardiovasc Transl Res 15 (1), 143-166 (2022)
   PUBMED   34185281
  REMARK    GeneRIF: MiR-32-3p Regulates Myocardial Injury Induced by
            Microembolism and Microvascular Obstruction by Targeting RNF13 to
            Regulate the Stability of Atherosclerotic Plaques.
REFERENCE   2  (residues 1 to 250)
  AUTHORS   Cabana VC, Bouchard AY, Senecal AM, Ghilarducci K, Kourrich S,
            Cappadocia L and Lussier MP.
  TITLE     RNF13 Dileucine Motif Variants L311S and L312P Interfere with
            Endosomal Localization and AP-3 Complex Association
  JOURNAL   Cells 10 (11), 3063 (2021)
   PUBMED   34831286
  REMARK    GeneRIF: RNF13 Dileucine Motif Variants L311S and L312P Interfere
            with Endosomal Localization and AP-3 Complex Association.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 250)
  AUTHORS   Mo Y, Wang Y, Zhang S, Xiong F, Yan Q, Jiang X, Deng X, Wang Y, Fan
            C, Tang L, Zhang S, Gong Z, Wang F, Liao Q, Guo C, Li Y, Li X, Li
            G, Zeng Z and Xiong W.
  TITLE     Circular RNA circRNF13 inhibits proliferation and metastasis of
            nasopharyngeal carcinoma via SUMO2
  JOURNAL   Mol Cancer 20 (1), 112 (2021)
   PUBMED   34465340
  REMARK    GeneRIF: Circular RNA circRNF13 inhibits proliferation and
            metastasis of nasopharyngeal carcinoma via SUMO2.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 250)
  AUTHORS   Zhang R, Li Y, Wang H, Zhu K and Zhang G.
  TITLE     The Regulation of circRNA RNF13/miRNA-1224-5p Axis Promotes the
            Malignant Evolution in Acute Myeloid Leukemia
  JOURNAL   Biomed Res Int 2020, 5654380 (2020)
   PUBMED   33083473
  REMARK    GeneRIF: The Regulation of circRNA RNF13/miRNA-1224-5p Axis
            Promotes the Malignant Evolution in Acute Myeloid Leukemia.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 250)
  AUTHORS   Edvardson S, Nicolae CM, Noh GJ, Burton JE, Punzi G, Shaag A,
            Bischetsrieder J, De Grassi A, Pierri CL, Elpeleg O and Moldovan
            GL.
  TITLE     Heterozygous RNF13 Gain-of-Function Variants Are Associated with
            Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and
            Failure to Thrive
  JOURNAL   Am J Hum Genet 104 (1), 179-185 (2019)
   PUBMED   30595371
  REMARK    GeneRIF: results indicate that the RNF13 variants confer gain of
            function to the encoded protein and thereby lead to altered
            signaling of the ER stress response associated with severe
            neurodegeneration in infancy
REFERENCE   6  (residues 1 to 250)
  AUTHORS   Zhang Q, Meng Y, Zhang L, Chen J and Zhu D.
  TITLE     RNF13: a novel RING-type ubiquitin ligase over-expressed in
            pancreatic cancer
  JOURNAL   Cell Res 19 (3), 348-357 (2009)
   PUBMED   18794910
  REMARK    GeneRIF: RNF13 is a novel E3 ubiquitin ligase involved in
            pancreatic carcinogenesis.
REFERENCE   7  (residues 1 to 250)
  AUTHORS   Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H,
            Elsasser HP, Mann M and Hasilik A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
REFERENCE   8  (residues 1 to 250)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (residues 1 to 250)
  AUTHORS   Wesselkamper SC, McDowell SA, Medvedovic M, Dalton TP, Deshmukh HS,
            Sartor MA, Case LM, Henning LN, Borchers MT, Tomlinson CR, Prows DR
            and Leikauf GD.
  TITLE     The role of metallothionein in the pathogenesis of acute lung
            injury
  JOURNAL   Am J Respir Cell Mol Biol 34 (1), 73-82 (2006)
   PUBMED   16166738
  REMARK    GeneRIF: Mice lacking Mt1/2 have a rapid decrease in Rnf13 during
            acute lung injury
REFERENCE   10 (residues 1 to 250)
  AUTHORS   Tranque P, Crossin KL, Cirelli C, Edelman GM and Mauro VP.
  TITLE     Identification and characterization of a RING zinc finger gene
            (C-RZF) expressed in chicken embryo cells
  JOURNAL   Proc Natl Acad Sci U S A 93 (7), 3105-3109 (1996)
   PUBMED   8610176
  REMARK    GeneRIF: Cloning report of the chicken homolog
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC069216.13 and AC117395.5.
            On Feb 6, 2020 this sequence version replaced XP_016861149.1.
            
            Summary: The protein encoded by this gene contains a RING zinc
            finger, a motif known to be involved in protein-protein
            interactions. The specific function of this gene has not yet been
            determined. Alternatively spliced transcript variants that encode
            the same protein have been reported. A pseudogene, which is also
            located on chromosome 3, has been defined for this gene. [provided
            by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.1587408.1,
                                           SRR18074969.1296215.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..250
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.1"
     Protein         1..250
                     /product="E3 ubiquitin-protein ligase RNF13 isoform 4"
                     /EC_number="2.3.2.27"
                     /note="RING zinc finger protein; E3 ubiquitin-protein
                     ligase RNF13; RING-type E3 ubiquitin transferase RNF13"
                     /calculated_mol_wt=28238
     Region          <1..49
                     /region_name="PA"
                     /note="Protease-associated (PA) domain. The PA domain is
                     an insert domain in a diverse fraction of proteases. The
                     significance of the PA domain to many of the proteins in
                     which it is inserted is undetermined. It may be a
                     protein-protein interaction domain. At...; cl28883"
                     /db_xref="CDD:333703"
     Region          99..157
                     /region_name="RING-H2_RNF13"
                     /note="RING finger, H2 subclass, found in RING finger
                     protein 13 (RNF13) and similar proteins; cd16796"
                     /db_xref="CDD:438450"
     Site            order(109,112,127,129,132,135,147,150)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:438450"
     CDS             1..250
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
                     /coded_by="NM_001378291.1:419..1171"
                     /note="isoform 4 is encoded by transcript variant 11"
                     /db_xref="GeneID:11342"
                     /db_xref="HGNC:HGNC:10057"
                     /db_xref="MIM:609247"
ORIGIN      
        1 mgsndievlk kidipsvfig essanslkde ftyekgghli lvpefslple yylipfliiv
       61 giclilivif mitkfvqdrh rarrnrlrkd qlkklpvhkf kkgdeydvca icldeyedgd
      121 klrilpcsha yhckcvdpwl tktkktcpvc kqkvvpsqgd sdsdtdssqe enevtehtpl
      181 lrplasvsaq sfgalsesrs hqnmtessdy eeddnedtds sdaeneineh dvvvqlqpng
      241 erdyniantv
//
LOCUS       NP_001035720             193 aa            linear   PRI 29-DEC-2022
DEFINITION  neurocalcin-delta [Homo sapiens].
ACCESSION   NP_001035720
VERSION     NP_001035720.1
DBSOURCE    REFSEQ: accession NM_001040630.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 193)
  AUTHORS   Dong C, Yin F, Zhu D, Cai X, Chen C and Liu X.
  TITLE     NCALD affects drug resistance and prognosis by acting as a ceRNA of
            CX3CL1 in ovarian cancer
  JOURNAL   J Cell Biochem 121 (11), 4470-4483 (2020)
   PUBMED   32030795
  REMARK    GeneRIF: NCALD affects drug resistance and prognosis by acting as a
            ceRNA of CX3CL1 in ovarian cancer.
REFERENCE   2  (residues 1 to 193)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 193)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 193)
  AUTHORS   Feng LY and Li L.
  TITLE     Low expression of NCALD is associated with chemotherapy resistance
            and poor prognosis in epithelial ovarian cancer
  JOURNAL   J Ovarian Res 13 (1), 35 (2020)
   PUBMED   32228639
  REMARK    GeneRIF: Low expression of NCALD is associated with chemotherapy
            resistance and poor prognosis in epithelial ovarian cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 193)
  AUTHORS   Song Y, Zhang W, He X, Liu X, Yang P, Wang J, Hu K, Liu W, Zhang X,
            Jing H and Yuan X.
  TITLE     High NCALD expression predicts poor prognosis of cytogenetic normal
            acute myeloid leukemia
  JOURNAL   J Transl Med 17 (1), 166 (2019)
   PUBMED   31109331
  REMARK    GeneRIF: high expression of NCALD gene is a poor prognostic factor
            for cytogenetic normal acute myeloid leukemia.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 193)
  AUTHORS   O'Callaghan DW, Ivings L, Weiss JL, Ashby MC, Tepikin AV and
            Burgoyne RD.
  TITLE     Differential use of myristoyl groups on neuronal calcium sensor
            proteins as a determinant of spatio-temporal aspects of Ca2+ signal
            transduction
  JOURNAL   J Biol Chem 277 (16), 14227-14237 (2002)
   PUBMED   11836243
REFERENCE   7  (residues 1 to 193)
  AUTHORS   Wang W, Zhou Z, Zhao W, Huang Y, Tang R, Ying K, Xie Y and Mao Y.
  TITLE     Molecular cloning, mapping and characterization of the human
            neurocalcin delta gene (NCALD)
  JOURNAL   Biochim Biophys Acta 1518 (1-2), 162-167 (2001)
   PUBMED   11267673
REFERENCE   8  (residues 1 to 193)
  AUTHORS   Burgoyne RD and Weiss JL.
  TITLE     The neuronal calcium sensor family of Ca2+-binding proteins
  JOURNAL   Biochem J 353 (Pt 1), 1-12 (2001)
   PUBMED   11115393
  REMARK    Review article
            Erratum:[Biochem J 2001 Mar 15;354(Pt 3):727]
REFERENCE   9  (residues 1 to 193)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (residues 1 to 193)
  AUTHORS   Ladant D.
  TITLE     Calcium and membrane binding properties of bovine neurocalcin delta
            expressed in Escherichia coli
  JOURNAL   J Biol Chem 270 (7), 3179-3185 (1995)
   PUBMED   7852401
  REMARK    GeneRIF: The author characterizes the biochemical properties of
            recombinant bovine neurocalcin delta, whose protein sequence is
            identical to the human ortholog
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB284042.1, DA215759.1,
            BC063428.1, AP000426.3 and BM681731.1.
            
            Summary: This gene encodes a member of the neuronal calcium sensor
            (NCS) family of calcium-binding proteins. The protein contains an
            N-terminal myristoylation signal and four EF-hand calcium binding
            loops. The protein is cytosolic at resting calcium levels; however,
            elevated intracellular calcium levels induce a conformational
            change that exposes the myristoyl group, resulting in protein
            association with membranes and partial co-localization with the
            perinuclear trans-golgi network. The protein is thought to be a
            regulator of G protein-coupled receptor signal transduction.
            Several alternatively spliced variants of this gene have been
            determined, all of which encode the same protein; additional
            variants may exist but their biological validity has not been
            determined. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (7) differs in the 5' UTR compared
            to variant 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.216926.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..193
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.3"
     Protein         1..193
                     /product="neurocalcin-delta"
                     /calculated_mol_wt=22114
     Region          14..179
                     /region_name="FRQ1"
                     /note="Ca2+-binding protein, EF-hand superfamily [Signal
                     transduction mechanisms]; COG5126"
                     /db_xref="CDD:227455"
     CDS             1..193
                     /gene="NCALD"
                     /coded_by="NM_001040630.2:461..1042"
                     /db_xref="CCDS:CCDS6292.1"
                     /db_xref="GeneID:83988"
                     /db_xref="HGNC:HGNC:7655"
                     /db_xref="MIM:606722"
ORIGIN      
        1 mgkqnsklrp evmqdllest dfteheiqew ykgflrdcps ghlsmeefkk iygnffpygd
       61 askfaehvfr tfdangdgti dfrefiials vtsrgkleqk lkwafsmydl dgngyiskae
      121 mleivqaiyk mvssvmkmpe destpekrte kifrqmdtnr dgklsleefi rgaksdpsiv
      181 rllqcdpssa gqf
//
LOCUS       NP_542432                236 aa            linear   PRI 30-DEC-2022
DEFINITION  three prime repair exonuclease 2 [Homo sapiens].
ACCESSION   NP_542432 NP_009136
VERSION     NP_542432.2
DBSOURCE    REFSEQ: accession NM_080701.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 236)
  AUTHORS   Ko JH, Son MY, Zhou Q, Molnarova L, Song L, Mlcouskova J, Jekabsons
            A, Montagna C, Krejci L and Hasty P.
  TITLE     TREX2 Exonuclease Causes Spontaneous Mutations and Stress-Induced
            Replication Fork Defects in Cells Expressing RAD51K133A
  JOURNAL   Cell Rep 33 (12), 108543 (2020)
   PUBMED   33357432
  REMARK    GeneRIF: TREX2 Exonuclease Causes Spontaneous Mutations and
            Stress-Induced Replication Fork Defects in Cells Expressing
            RAD51(K133A).
REFERENCE   2  (residues 1 to 236)
  AUTHORS   Aksenova V, Smith A, Lee H, Bhat P, Esnault C, Chen S, Iben J,
            Kaufhold R, Yau KC, Echeverria C, Fontoura B, Arnaoutov A and Dasso
            M.
  TITLE     Nucleoporin TPR is an integral component of the TREX-2 mRNA export
            pathway
  JOURNAL   Nat Commun 11 (1), 4577 (2020)
   PUBMED   32917881
  REMARK    GeneRIF: Nucleoporin TPR is an integral component of the TREX-2
            mRNA export pathway.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 236)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 236)
  AUTHORS   Weigel C, Chaisaingmongkol J, Assenov Y, Kuhmann C, Winkler V,
            Santi I, Bogatyrova O, Kaucher S, Bermejo JL, Leung SY, Chan TL,
            Lasitschka F, Bohrer MH, Marx A, Haussen RH, Herold-Mende C,
            Dyckhoff G, Boukamp P, Delank KW, Hormann K, Lippert BM, Baier G,
            Dietz A, Oakes CC, Plass C, Becher H, Schmezer P, Ramroth H and
            Popanda O.
  TITLE     DNA methylation at an enhancer of the three prime repair
            exonuclease 2 gene (TREX2) is linked to gene expression and
            survival in laryngeal cancer
  JOURNAL   Clin Epigenetics 11 (1), 67 (2019)
   PUBMED   31053176
  REMARK    GeneRIF: Significant methylation loss at an intragenic site of
            TREX2 was a frequent trait in a cohort of patients with laryngeal
            cancer. Methylation loss correlated with increased expression of
            TREX2 in laryngeal tumors and improved overall survival. These data
            highlight a regulatory role of TREX2 DNA methylation for gene
            expression which might affect incidence and survival of laryngeal
            cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 236)
  AUTHORS   Chen MJ, Ma SM, Dumitrache LC and Hasty P.
  TITLE     Biochemical and cellular characteristics of the 3' -> 5'
            exonuclease TREX2
  JOURNAL   Nucleic Acids Res 35 (8), 2682-2694 (2007)
   PUBMED   17426129
  REMARK    GeneRIF: Results suggest that TREX2 plays an important function
            during DNA metabolism and cellular proliferation.
REFERENCE   6  (residues 1 to 236)
  AUTHORS   Perrino FW, Krol A, Harvey S, Zheng SL, Horita DA, Hollis T, Meyers
            DA, Isaacs WB and Xu J.
  TITLE     Sequence variants in the 3'-->5' deoxyribonuclease TREX2:
            identification in a genetic screen and effects on catalysis by the
            recombinant proteins
  JOURNAL   Adv Enzyme Regul 44, 37-49 (2004)
   PUBMED   15581481
  REMARK    GeneRIF: Polymorphisms exist in prostatic cancer patients.
REFERENCE   7  (residues 1 to 236)
  AUTHORS   Shevelev IV, Ramadan K and Hubscher U.
  TITLE     The TREX2 3'-->5' exonuclease physically interacts with DNA
            polymerase delta and increases its accuracy
  JOURNAL   ScientificWorldJournal 2, 275-281 (2002)
   PUBMED   12806015
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 236)
  AUTHORS   Mazur DJ and Perrino FW.
  TITLE     Excision of 3' termini by the Trex1 and TREX2 3'-->5' exonucleases.
            Characterization of the recombinant proteins
  JOURNAL   J Biol Chem 276 (20), 17022-17029 (2001)
   PUBMED   11279105
REFERENCE   9  (residues 1 to 236)
  AUTHORS   Mazur DJ and Perrino FW.
  TITLE     Structure and expression of the TREX1 and TREX2 3' --> 5'
            exonuclease genes
  JOURNAL   J Biol Chem 276 (18), 14718-14727 (2001)
   PUBMED   11278605
REFERENCE   10 (residues 1 to 236)
  AUTHORS   Mazur DJ and Perrino FW.
  TITLE     Identification and expression of the TREX1 and TREX2 cDNA sequences
            encoding mammalian 3'-->5' exonucleases
  JOURNAL   J Biol Chem 274 (28), 19655-19660 (1999)
   PUBMED   10391904
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U82695.3.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Sep 13, 2012 this sequence version replaced
            NP_009136.1, NP_542432.1.
            
            Summary: This gene encodes a nuclear protein with 3' to 5'
            exonuclease activity. The encoded protein participates in
            double-stranded DNA break repair, and may interact with DNA
            polymerase delta. [provided by RefSeq, Nov 2012].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF319570.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158800 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370231.3/ ENSP00000359251.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..236
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..236
                     /product="three prime repair exonuclease 2"
                     /EC_number="3.1.11.2"
                     /note="3'-5' exonuclease TREX2 long form"
                     /calculated_mol_wt=25790
     Region          10..204
                     /region_name="TREX1_2"
                     /note="DEDDh 3'-5' exonuclease domain of three prime
                     repair exonuclease (TREX)1, TREX2, and similar proteins;
                     cd06136"
                     /db_xref="CDD:99839"
     Site            order(14..17,20,74,78,117..118,121..123,172,188,193)
                     /site_type="active"
                     /db_xref="CDD:99839"
     Site            order(14..17,20,74,78,117..118,121..122,172,188,193)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:99839"
     Site            order(14,16,123,188,193)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:99839"
     Site            order(16..17,78,188)
                     /site_type="active"
                     /note="nucleotide product binding site [active]"
                     /db_xref="CDD:99839"
     Site            order(29,36,55,58..63,78,91..92,94,96,100,103..104,
                     106..109,191)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:99839"
     CDS             1..236
                     /gene="TREX2"
                     /coded_by="NM_080701.4:114..824"
                     /db_xref="CCDS:CCDS35437.1"
                     /db_xref="GeneID:11219"
                     /db_xref="HGNC:HGNC:12270"
                     /db_xref="MIM:300370"
ORIGIN      
        1 mseapraetf vfldleatgl psvepeiael slfavhrssl enpehdesga lvlprvldkl
       61 tlcmcperpf takaseitgl sseglarcrk agfdgavvrt lqaflsrqag piclvahngf
      121 dydfpllcae lrrlgarlpr dtvcldtlpa lrgldrahsh gtrargrqgy slgslfhryf
      181 raepsaahsa egdvhtllli flhraaella wadeqargwa hiepmylppd dpslea
//
LOCUS       NP_001374247             591 aa            linear   PRI 31-DEC-2022
DEFINITION  zinc finger protein 133 isoform e [Homo sapiens].
ACCESSION   NP_001374247
VERSION     NP_001374247.1
DBSOURCE    REFSEQ: accession NM_001387318.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 591)
  AUTHORS   Jung ES, Choi KW, Kim SW, Hubenthal M, Mucha S, Park J, Park Z,
            Ellinghaus D, Schreiber S, Franke A, Oh WY and Cheon JH.
  TITLE     ZNF133 is associated with infliximab responsiveness in patients
            with inflammatory bowel diseases
  JOURNAL   J Gastroenterol Hepatol 34 (10), 1727-1735 (2019)
   PUBMED   30851117
  REMARK    GeneRIF: ZNF133 SNPs are associated with infliximab responsiveness
            in patients crohn's disease and ulcerative colitis.
REFERENCE   2  (residues 1 to 591)
  AUTHORS   Miyamoto-Sato E, Fujimori S, Ishizaka M, Hirai N, Masuoka K, Saito
            R, Ozawa Y, Hino K, Washio T, Tomita M, Yamashita T, Oshikubo T,
            Akasaka H, Sugiyama J, Matsumoto Y and Yanagawa H.
  TITLE     A comprehensive resource of interacting protein regions for
            refining human transcription factor networks
  JOURNAL   PLoS One 5 (2), e9289 (2010)
   PUBMED   20195357
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 591)
  AUTHORS   Lee SJ, Lee JR, Hahn HS, Kim YH, Ahn JH, Bae CD, Yang JM and Hahn
            MJ.
  TITLE     PIAS1 interacts with the KRAB zinc finger protein, ZNF133, via zinc
            finger motifs and regulates its transcriptional activity
  JOURNAL   Exp Mol Med 39 (4), 450-457 (2007)
   PUBMED   17934332
  REMARK    GeneRIF: the transcriptional repressor activity of ZNF133 is
            regulated by both the KRAB domain and the zinc finger motifs, and
            that the repressive effect by zinc finger motifs is mediated by
            PIAS1
REFERENCE   4  (residues 1 to 591)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   5  (residues 1 to 591)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   6  (residues 1 to 591)
  AUTHORS   Moosmann P, Georgiev O, Thiesen HJ, Hagmann M and Schaffner W.
  TITLE     Silencing of RNA polymerases II and III-dependent transcription by
            the KRAB protein domain of KOX1, a Kruppel-type zinc finger factor
  JOURNAL   Biol Chem 378 (7), 669-677 (1997)
   PUBMED   9278146
REFERENCE   7  (residues 1 to 591)
  AUTHORS   Vissing H, Meyer WK, Aagaard L, Tommerup N and Thiesen HJ.
  TITLE     Repression of transcriptional activity by heterologous KRAB domains
            present in zinc finger proteins
  JOURNAL   FEBS Lett 369 (2-3), 153-157 (1995)
   PUBMED   7649249
REFERENCE   8  (residues 1 to 591)
  AUTHORS   Tommerup N and Vissing H.
  TITLE     Isolation and fine mapping of 16 novel human zinc finger-encoding
            cDNAs identify putative candidate genes for developmental and
            malignant disorders
  JOURNAL   Genomics 27 (2), 259-264 (1995)
   PUBMED   7557990
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL049646.19.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..591
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.23"
     Protein         1..591
                     /product="zinc finger protein 133 isoform e"
                     /note="zinc finger protein 133 (clone pHZ-13); zinc finger
                     protein 150 (pHZ-66)"
                     /calculated_mol_wt=65896
     Region          152..561
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          153..173
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          181..201
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          209..229
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(214,216,218,220..221,224..225,228,242,244,248..249,
                     252..253,256,270,272,274,276..277,280..281,284)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          237..257
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          265..285
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          293..313
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          321..341
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          349..369
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(354,356,358,360..361,364..365,368,382,384,388..389,
                     392..393,396,410,412,414,416..417,420..421,424)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          377..397
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          405..425
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          433..453
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          461..481
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          489..509
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          517..537
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          545..564
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..591
                     /gene="ZNF133"
                     /gene_synonym="pHZ-13; pHZ-66; ZNF150"
                     /coded_by="NM_001387318.1:666..2441"
                     /note="isoform e is encoded by transcript variant 55"
                     /db_xref="GeneID:7692"
                     /db_xref="HGNC:HGNC:12917"
                     /db_xref="MIM:604075"
ORIGIN      
        1 mcngrktvla dpepelyldp fcppgfssqk fpmqhvlcnh ppwiftclca egniqpgdpg
       61 pgdqekqqqa segrpwsdqa egpegegamp lfgrtkkrtl gafsrppqrq pvssrnglrg
      121 veleaspaqs gnpeetdkll krievlgfgt vncgecglsf skmtnllshq rihsgekpyv
      181 cgvcekgfsl kkslarhqka hsgekpivcr ecgrgfnrks tliiherths gekpymcsec
      241 grgfsqksnl iihqrthsge kpyvcrecgk gfsqksavvr hqrthleekt ivcsdcglgf
      301 sdrsnlishq rthsgekpya ckecgrcfrq rttlvnhqrt hskekpyvcg vcghsfsqns
      361 tlishrrtht gekpyvcgvc grgfslkshl nrhqnihsge kpivckdcgr gfsqqsnlir
      421 hqrthsgekp mvcgecgrgf sqksnlvahq rthsgerpyv crecgrgfsh qaglirhkrk
      481 hsrekpymcr qcglgfgnks alithkrahs eekpcvcrec gqgflqkshl tlhqmthtge
      541 kpyvcktcgr gfslkshlsr hrkttsvhhr lpvqpdpepc agqpsdslys l
//
LOCUS       NP_001382932             940 aa            linear   PRI 31-DEC-2022
DEFINITION  rho guanine nucleotide exchange factor 1 isoform 6 [Homo sapiens].
ACCESSION   NP_001382932
VERSION     NP_001382932.1
DBSOURCE    REFSEQ: accession NM_001396003.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 940)
  AUTHORS   Jha P, Singh P, Arora S, Sultan A, Nayek A, Ponnusamy K, Syed MA,
            Dohare R and Chopra M.
  TITLE     Integrative multiomics and in silico analysis revealed the role of
            ARHGEF1 and its screened antagonist in mild and severe COVID-19
            patients
  JOURNAL   J Cell Biochem 123 (3), 673-690 (2022)
   PUBMED   35037717
  REMARK    GeneRIF: Integrative multiomics and in silico analysis revealed the
            role of ARHGEF1 and its screened antagonist in mild and severe
            COVID-19 patients.
REFERENCE   2  (residues 1 to 940)
  AUTHORS   Sajib MS, Zahra FT, Akwii RG and Mikelis CM.
  TITLE     Identification of Rho GEF and RhoA Activation by Pull-Down Assays
  JOURNAL   Methods Mol Biol 2193, 97-109 (2021)
   PUBMED   32808262
  REMARK    GeneRIF: Identification of Rho GEF and RhoA Activation by Pull-Down
            Assays.
REFERENCE   3  (residues 1 to 940)
  AUTHORS   Shaifta Y, MacKay CE, Irechukwu N, O'Brien KA, Wright DB, Ward JPT
            and Knock GA.
  TITLE     Transforming growth factor-beta enhances Rho-kinase activity and
            contraction in airway smooth muscle via the nucleotide exchange
            factor ARHGEF1
  JOURNAL   J Physiol 596 (1), 47-66 (2018)
   PUBMED   29071730
  REMARK    GeneRIF: High ARHGEF1 expression is associated with asthmatic
            airway hyper-responsiveness.
REFERENCE   4  (residues 1 to 940)
  AUTHORS   Singh NK, Janjanam J and Rao GN.
  TITLE     p115 RhoGEF activates the Rac1 GTPase signaling cascade in MCP1
            chemokine-induced vascular smooth muscle cell migration and
            proliferation
  JOURNAL   J Biol Chem 292 (34), 14080-14091 (2017)
   PUBMED   28655771
  REMARK    GeneRIF: Data suggest that MCP1/CCL2 induces activation/tyrosine
            phosphorylation of ARHGEF1/p115-RhoGEF and up-regulates RAC1
            signaling in vascular smooth muscle cells (VSMCs); ARHGEF1
            inhibition suppresses MCP1-induced VSMC migration and
            proliferation. (ARHGEF1 = Rho guanine nucleotide exchange factor 1;
            RAC1 = Rac family small GTPase 1; CCL2 = C-C motif chemokine ligand
            2)
REFERENCE   5  (residues 1 to 940)
  AUTHORS   Spellmon N, Holcomb J, Niu A, Choudhary V, Sun X, Zhang Y, Wan J,
            Doughan M, Hayden S, Hachem F, Brunzelle J, Li C and Yang Z.
  TITLE     Structural basis of PDZ-mediated chemokine receptor CXCR2
            scaffolding by guanine nucleotide exchange factor PDZ-RhoGEF
  JOURNAL   Biochem Biophys Res Commun 485 (2), 529-534 (2017)
   PUBMED   28179147
  REMARK    GeneRIF: Data indicate that the crystal structure of PDZ-RhoGEF PDZ
            domain in complex with the CXC chemokine receptor 2 (CXCR2)
            C-terminal PDZ binding motif.
REFERENCE   6  (residues 1 to 940)
  AUTHORS   Azim AC, Barkalow K, Chou J and Hartwig JH.
  TITLE     Activation of the small GTPases, rac and cdc42, after ligation of
            the platelet PAR-1 receptor
  JOURNAL   Blood 95 (3), 959-964 (2000)
   PUBMED   10648409
REFERENCE   7  (residues 1 to 940)
  AUTHORS   Hart MJ, Jiang X, Kozasa T, Roscoe W, Singer WD, Gilman AG,
            Sternweis PC and Bollag G.
  TITLE     Direct stimulation of the guanine nucleotide exchange activity of
            p115 RhoGEF by Galpha13
  JOURNAL   Science 280 (5372), 2112-2114 (1998)
   PUBMED   9641916
REFERENCE   8  (residues 1 to 940)
  AUTHORS   Kozasa T, Jiang X, Hart MJ, Sternweis PM, Singer WD, Gilman AG,
            Bollag G and Sternweis PC.
  TITLE     p115 RhoGEF, a GTPase activating protein for Galpha12 and Galpha13
  JOURNAL   Science 280 (5372), 2109-2111 (1998)
   PUBMED   9641915
REFERENCE   9  (residues 1 to 940)
  AUTHORS   Aasheim HC, Pedeutour F and Smeland EB.
  TITLE     Characterization, expression and chromosomal localization of a
            human gene homologous to the mouse Lsc oncogene, with strongest
            expression in hematopoetic tissues
  JOURNAL   Oncogene 14 (14), 1747-1752 (1997)
   PUBMED   9135076
REFERENCE   10 (residues 1 to 940)
  AUTHORS   Hart MJ, Sharma S, elMasry N, Qiu RG, McCabe P, Polakis P and
            Bollag G.
  TITLE     Identification of a novel guanine nucleotide exchange factor for
            the Rho GTPase
  JOURNAL   J Biol Chem 271 (41), 25452-25458 (1996)
   PUBMED   8810315
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC243967.3 and AC010616.5.
            
            Summary: Rho GTPases play a fundamental role in numerous cellular
            processes that are initiated by extracellular stimuli that work
            through G protein coupled receptors. The encoded protein may form
            complex with G proteins and stimulate Rho-dependent signals.
            Multiple alternatively spliced transcript variants have been found
            for this gene, but the full-length nature of some variants has not
            been defined. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1455301.1,
                                           SRR14038191.1663053.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..940
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     Protein         1..940
                     /product="rho guanine nucleotide exchange factor 1 isoform
                     6"
                     /note="Lsc homolog; 115-kD protein; Rho guanine nucleotide
                     exchange factor (GEF) 1; p115RhoGEF; 115 kDa guanine
                     nucleotide exchange factor"
                     /calculated_mol_wt=105425
     Region          52..244
                     /region_name="RGS_p115RhoGEF"
                     /note="Regulator of G protein signaling (RGS) domain found
                     in the Rho guanine nucleotide exchange factor (GEF), p115
                     RhoGEF; cd08755"
                     /db_xref="CDD:188709"
     Site            order(66..70,160,162..165,167..169,172)
                     /site_type="other"
                     /note="putative G-alpha-13 interaction site"
                     /db_xref="CDD:188709"
     Region          248..413
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92888.2)"
     Region          <251..>415
                     /region_name="PHA03169"
                     /note="hypothetical protein; Provisional"
                     /db_xref="CDD:223003"
     Site            374
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92888.2)"
     Site            409
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92888.2)"
     Region          420..604
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; smart00325"
                     /db_xref="CDD:214619"
     Site            order(423,427,527,555..556,559..560,562..563,566..567,
                     570..571,574,599,603)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          638..762
                     /region_name="PH_p115RhoGEF"
                     /note="Rho guanine nucleotide exchange factor Pleckstrin
                     homology domain; cd14679"
                     /db_xref="CDD:275429"
     Site            695
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92888.2)"
     Site            738
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by JAK2.
                     /evidence=ECO:0000269|PubMed:20098430; propagated from
                     UniProtKB/Swiss-Prot (Q92888.2)"
     Region          763..802
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92888.2)"
     CDS             1..940
                     /gene="ARHGEF1"
                     /gene_synonym="GEF1; IMD62; LBCL2; LSC; P115-RHOGEF;
                     SUB1.5"
                     /coded_by="NM_001396003.1:126..2948"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="GeneID:9138"
                     /db_xref="HGNC:HGNC:681"
                     /db_xref="MIM:601855"
ORIGIN      
        1 medfargaas pgpsrpglvp vsiigaeded feneletnse eqnsqfqsle qvkrrpahlm
       61 allqhvalqf epgpllcclh admlgslgpk eakkafldfy hsflektavl rvpvppnvaf
      121 eldrtradli sedvqrrfvq evvqsqqvav grqledfrsk rlmgmtpweq elaqleawvg
      181 rdrasyeare rhvaerllmh leemqhtist deeksaavvn aiglymrhlg vrtksgdkks
      241 grnffrkkvm gnrrsdepak tkkglssild aarwnrgepq vpdfrhlkae vdaekpgatd
      301 rkggvgmpsr drnigapgqd tpgvslhpls ldspdrepga daplelgdss pqgpmslesl
      361 appestdega etespepgde gepgrsglel epeeppgwre lvppdtlhsl pksqvkrqev
      421 isellvteaa hvrmlrvlhd lffqpmaecl ffpleelqni fpsldeliev hslfldrlmk
      481 rrqesgylie eigdvllarf dgaegswfqk issrfcsrqs faleqlkakq rkdprfcafv
      541 qeaesrprcr rlqlkdmipt emqrltkypl llqsigqnte epterekvel aaeccreilh
      601 hvnqavrdme dllrlkdyqr rldlshlrqs sdpmlsefkn lditkkklvh egpltwrvtk
      661 dkavevhvll lddlllllqr qderlllksh srtltptpdg ktmlrpvlrl tsamtrevat
      721 dhkafyvlft wdqeaqiyel vaqtvserkn wcalitetag slkvpapasr pkprpspsst
      781 repllsssen gnggretspa darterilsd llpfcrpgpe gqlaatalrk gvgggilppe
      841 tppvsawgel cppawlhlrf pprkhpiltt tcevgtammd ahftdvetev ltgkvtwpks
      901 hrdevsldln agqapprqvp hhllwgkaal twaapggfyp
//
LOCUS       NP_001382845             321 aa            linear   PRI 31-DEC-2022
DEFINITION  olfactory receptor 52P1 [Homo sapiens].
ACCESSION   NP_001382845
VERSION     NP_001382845.2
DBSOURCE    REFSEQ: accession NM_001395916.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 321)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BK004746.1.
            On Dec 6, 2021 this sequence version replaced NP_001382845.1.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript is intronless :: SRR7346977.2913101.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            polymorphic pseudogene :: based on alignments, homology
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..321
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..321
                     /product="olfactory receptor 52P1"
                     /note="olfactory receptor OR11-66 pseudogene; putative
                     olfactory receptor 52P1; olfactory receptor family 52
                     subfamily P member 1 pseudogene"
                     /calculated_mol_wt=34759
     Site            5
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NH57.2)"
     Region          27..301
                     /region_name="7tmA_OR52P-like"
                     /note="olfactory receptor subfamily 52P and related
                     proteins, member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15953"
                     /db_xref="CDD:341354"
     Region          28..54
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:341354"
     Site            28..48
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH57.2)"
     Site            57..77
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH57.2)"
     Region          61..87
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:341354"
     Site            order(83,86..87,99..104,106..107,110,155,157..161,197,
                     200..202,204..206,208..209,254,257..258,260..261,264,
                     272..273,275..277,280,283..284)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:341354"
     Region          99..129
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:341354"
     Site            102..122
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH57.2)"
     Region          142..163
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:341354"
     Site            142..162
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH57.2)"
     Region          197..227
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:341354"
     Site            199..219
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH57.2)"
     Region          234..264
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:341354"
     Site            240..260
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH57.2)"
     Region          273..298
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:341354"
     Site            276..296
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH57.2)"
     CDS             1..321
                     /gene="OR52P1"
                     /gene_synonym="OR11-66; OR52P1P"
                     /coded_by="NM_001395916.2:1..966"
                     /db_xref="GeneID:81248"
                     /db_xref="HGNC:HGNC:15232"
ORIGIN      
        1 mespnhtdvd psvffllgip gleqfhlwls lpvcglgtat ivgnitilvv vatepvlhkp
       61 vylflcmlst idlaasvstv pkllaifwcg aghisasacl aqmffihafc mmestvllam
      121 afdryvaich plryatiltd tiiahigvaa vvrgsllmlp cpfligrlnf cqshvilhty
      181 cehmavvkla cgdtrpnrvy gltaallvig vdlfciglsy alsaqavlrl sshearskal
      241 gtcgshvcvi lisytpalfs ffthrfghhv pvhihillan vylllppaln pvvygvktkq
      301 irkrvvrvfq sgqgmgikas e
//
LOCUS       NP_001381235             638 aa            linear   PRI 31-DEC-2022
DEFINITION  polycomb protein SCMH1 isoform i [Homo sapiens].
ACCESSION   NP_001381235
VERSION     NP_001381235.1
DBSOURCE    REFSEQ: accession NM_001394306.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 638)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 638)
  AUTHORS   Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM,
            Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML,
            Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI,
            Hakonarson H and Grant SF.
  TITLE     The role of height-associated loci identified in genome wide
            association studies in the determination of pediatric stature
  JOURNAL   BMC Med Genet 11, 96 (2010)
   PUBMED   20546612
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 638)
  AUTHORS   Sovio U, Bennett AJ, Millwood IY, Molitor J, O'Reilly PF, Timpson
            NJ, Kaakinen M, Laitinen J, Haukka J, Pillas D, Tzoulaki I, Molitor
            J, Hoggart C, Coin LJ, Whittaker J, Pouta A, Hartikainen AL,
            Freimer NB, Widen E, Peltonen L, Elliott P, McCarthy MI and
            Jarvelin MR.
  TITLE     Genetic determinants of height growth assessed longitudinally from
            infancy to adulthood in the northern Finland birth cohort 1966
  JOURNAL   PLoS Genet 5 (3), e1000409 (2009)
   PUBMED   19266077
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 638)
  AUTHORS   Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M,
            Freathy RM, Perry JR, Stevens S, Hall AS, Samani NJ, Shields B,
            Prokopenko I, Farrall M, Dominiczak A, Johnson T, Bergmann S,
            Beckmann JS, Vollenweider P, Waterworth DM, Mooser V, Palmer CN,
            Morris AD, Ouwehand WH, Zhao JH, Li S, Loos RJ, Barroso I, Deloukas
            P, Sandhu MS, Wheeler E, Soranzo N, Inouye M, Wareham NJ, Caulfield
            M, Munroe PB, Hattersley AT, McCarthy MI and Frayling TM.
  CONSRTM   Diabetes Genetics Initiative; Wellcome Trust Case Control
            Consortium; Cambridge GEM Consortium
  TITLE     Genome-wide association analysis identifies 20 loci that influence
            adult height
  JOURNAL   Nat Genet 40 (5), 575-583 (2008)
   PUBMED   18391952
REFERENCE   5  (residues 1 to 638)
  AUTHORS   Luo L, Yang X, Takihara Y, Knoetgen H and Kessel M.
  TITLE     The cell-cycle regulator geminin inhibits Hox function through
            direct and polycomb-mediated interactions
  JOURNAL   Nature 427 (6976), 749-753 (2004)
   PUBMED   14973489
REFERENCE   6  (residues 1 to 638)
  AUTHORS   Levine SS, Weiss A, Erdjument-Bromage H, Shao Z, Tempst P and
            Kingston RE.
  TITLE     The core of the polycomb repressive complex is compositionally and
            functionally conserved in flies and humans
  JOURNAL   Mol Cell Biol 22 (17), 6070-6078 (2002)
   PUBMED   12167701
REFERENCE   7  (residues 1 to 638)
  AUTHORS   Tomotsune D, Takihara Y, Berger J, Duhl D, Joo S, Kyba M, Shirai M,
            Ohta H, Matsuda Y, Honda BM, Simon J, Shimada K, Brock HW and
            Randazzo F.
  TITLE     A novel member of murine Polycomb-group proteins, Sex comb on
            midleg homolog protein, is highly conserved, and interacts with
            RAE28/mph1 in vitro
  JOURNAL   Differentiation 65 (4), 229-239 (1999)
   PUBMED   10653359
REFERENCE   8  (residues 1 to 638)
  AUTHORS   Berger J, Kurahashi H, Takihara Y, Shimada K, Brock HW and Randazzo
            F.
  TITLE     The human homolog of Sex comb on midleg (SCMH1) maps to chromosome
            1p34
  JOURNAL   Gene 237 (1), 185-191 (1999)
   PUBMED   10524249
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL606484.9, AL110502.1 and AL391730.13.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.208897.1,
                                           SRR14038192.1953504.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..638
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..638
                     /product="polycomb protein SCMH1 isoform i"
                     /note="polycomb protein SCMH1; sex comb on midleg homolog
                     1"
                     /calculated_mol_wt=70634
     Region          27..157
                     /region_name="MBT_SCMH1_rpt1"
                     /note="first malignant brain tumor (MBT) repeat found in
                     Polycomb protein sex comb on midleg homolog 1; cd20105"
                     /db_xref="CDD:439095"
     Region          162..236
                     /region_name="MBT_SCMH1_rpt2"
                     /note="second malignant brain tumor (MBT) repeat found in
                     Polycomb protein sex comb on midleg homolog 1 (SCMH1) and
                     similar proteins; cd20108"
                     /db_xref="CDD:439098"
     Site            order(177,180,182..183,185,201,204,208,234..236)
                     /site_type="other"
                     /note="methyllysine peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:439098"
     Region          <233..357
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          271..324
                     /region_name="RBR"
                     /note="RNA binding Region; pfam17208"
                     /db_xref="CDD:435787"
     Region          358..466
                     /region_name="SLED"
                     /note="SLED domain; pfam12140"
                     /db_xref="CDD:432357"
     Region          565..635
                     /region_name="SAM_Scm"
                     /note="SAM domain of Scm proteins of Polycomb group;
                     cd09578"
                     /db_xref="CDD:188977"
     Site            order(584,619..622,624..625,628,631)
                     /site_type="other"
                     /note="oligomer interface EH [polypeptide binding]"
                     /db_xref="CDD:188977"
     Site            order(596..600,602..603,606..607,610..611,613..616)
                     /site_type="other"
                     /note="oligomer interface ML [polypeptide binding]"
                     /db_xref="CDD:188977"
     CDS             1..638
                     /gene="SCMH1"
                     /gene_synonym="Scml3"
                     /coded_by="NM_001394306.1:748..2664"
                     /note="isoform i is encoded by transcript variant 18"
                     /db_xref="GeneID:22955"
                     /db_xref="HGNC:HGNC:19003"
                     /db_xref="MIM:616396"
ORIGIN      
        1 mlvcysvlac eilwdlpcsi mgsplghftw dkylketcsv papvhcfkqs ytppsnefki
       61 smkleaqdpr nttstciatv vgltgarlrl rldgsdnknd fwrlvdsaei qpigncekng
      121 gmlqpplgfr lnasswpmfl lktlngaema pirifhkepp spshnffkmg mkleavdrkn
      181 phficpatig evrgsevlvt fdgwrgafdy wcrfdsrdif pvgwcsltgd nlqppgtkvv
      241 ipknpypasd vntekpsihs stktvlehqp gqrgrkpgkk rgrtpktlis hpisapskta
      301 eplkfpkkrg pkpgskrkpr tllnpppasp ttstpepdts tvpqdaatip ssamqaptvc
      361 iylnkngstg phldkkkvqq lpdhfgpara svvlqqavqa cidcayhqkt vfsflkqghg
      421 gevisavfdr eqhtlnlpav nsityvlrfl eklchnlrsd nlfgnqpftq thlsltaiey
      481 shshdrylpg etfvlgnsla rslephsdsm dsasnptnlv stsqrhrpll sscglppsta
      541 savrrlcsrg sdrylesrda srlsgrdpss wtvedvmqfv readpqlgph adlfrkheid
      601 gkallllrsd mmmkymglkl gpalklsyhi drlkqgkf
//
LOCUS       NP_001386856             573 aa            linear   PRI 31-DEC-2022
DEFINITION  methyl-CpG-binding domain protein 1 isoform 82 [Homo sapiens].
ACCESSION   NP_001386856
VERSION     NP_001386856.1
DBSOURCE    REFSEQ: accession NM_001399927.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 573)
  AUTHORS   Xu WY, Hu QS, Qin Y, Zhang B, Liu WS, Ni QX, Xu J and Yu XJ.
  TITLE     Zinc finger E-box-binding homeobox 1 mediates aerobic glycolysis
            via suppression of sirtuin 3 in pancreatic cancer
  JOURNAL   World J Gastroenterol 24 (43), 4893-4905 (2018)
   PUBMED   30487699
  REMARK    GeneRIF: ZEB1 silenced SIRT3 expression via interaction with MBD1
            to promote aerobic glycolysis in pancreatic cancer.
REFERENCE   2  (residues 1 to 573)
  AUTHORS   Xu C, Liu K, Lei M, Yang A, Li Y, Hughes TR and Min J.
  TITLE     DNA Sequence Recognition of Human CXXC Domains and Their Structural
            Determinants
  JOURNAL   Structure 26 (1), 85-95 (2018)
   PUBMED   29276034
REFERENCE   3  (residues 1 to 573)
  AUTHORS   Zhang P, Rausch C, Hastert FD, Boneva B, Filatova A, Patil SJ,
            Nuber UA, Gao Y, Zhao X and Cardoso MC.
  TITLE     Methyl-CpG binding domain protein 1 regulates localization and
            activity of Tet1 in a CXXC3 domain-dependent manner
  JOURNAL   Nucleic Acids Res 45 (12), 7118-7136 (2017)
   PUBMED   28449087
  REMARK    GeneRIF: MBD1 regulates localization and activity of Tet1 in a
            CXXC3 domain-dependent manner.
REFERENCE   4  (residues 1 to 573)
  AUTHORS   Qi L and Ding Y.
  TITLE     Screening of Tumor Suppressor Genes in Metastatic Colorectal Cancer
  JOURNAL   Biomed Res Int 2017, 2769140 (2017)
   PUBMED   28473981
  REMARK    GeneRIF: MBD1 may be a tumor suppressor gene in advanced colorectal
            cancer (CRC)and affect the development and metastasis of CRC by
            regulating 8 tumor suppressor genes through binding with SP1.
REFERENCE   5  (residues 1 to 573)
  AUTHORS   Ohki I, Shimotake N, Fujita N, Nakao M and Shirakawa M.
  TITLE     Solution structure of the methyl-CpG-binding domain of the
            methylation-dependent transcriptional repressor MBD1
  JOURNAL   EMBO J 18 (23), 6653-6661 (1999)
   PUBMED   10581239
REFERENCE   6  (residues 1 to 573)
  AUTHORS   Fujita N, Takebayashi S, Okumura K, Kudo S, Chiba T, Saya H and
            Nakao M.
  TITLE     Methylation-mediated transcriptional silencing in euchromatin by
            methyl-CpG binding protein MBD1 isoforms
  JOURNAL   Mol Cell Biol 19 (9), 6415-6426 (1999)
   PUBMED   10454587
REFERENCE   7  (residues 1 to 573)
  AUTHORS   Hendrich B, Abbott C, McQueen H, Chambers D, Cross S and Bird A.
  TITLE     Genomic structure and chromosomal mapping of the murine and human
            Mbd1, Mbd2, Mbd3, and Mbd4 genes
  JOURNAL   Mamm Genome 10 (9), 906-912 (1999)
   PUBMED   10441743
REFERENCE   8  (residues 1 to 573)
  AUTHORS   Ueba T, Kaspar B, Zhao X and Gage FH.
  TITLE     Repression of human fibroblast growth factor 2 by a novel
            transcription factor
  JOURNAL   J Biol Chem 274 (15), 10382-10387 (1999)
   PUBMED   10187827
REFERENCE   9  (residues 1 to 573)
  AUTHORS   Hendrich B and Bird A.
  TITLE     Identification and characterization of a family of mammalian
            methyl-CpG binding proteins
  JOURNAL   Mol Cell Biol 18 (11), 6538-6547 (1998)
   PUBMED   9774669
REFERENCE   10 (residues 1 to 573)
  AUTHORS   Cross SH, Meehan RR, Nan X and Bird A.
  TITLE     A component of the transcriptional repressor MeCP1 shares a motif
            with DNA methyltransferase and HRX proteins
  JOURNAL   Nat Genet 16 (3), 256-259 (1997)
   PUBMED   9207790
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090246.9.
            
            Summary: The protein encoded by this gene is a member of a family
            of nuclear proteins related by the presence of a methyl-CpG binding
            domain (MBD). These proteins are capable of binding specifically to
            methylated DNA, and some members can also repress transcription
            from methylated gene promoters. This protein contains multiple
            domains: MBD at the N-terminus that functions both in binding to
            methylated DNA and in protein interactions; several CXXC-type zinc
            finger domains that mediate binding to non-methylated CpG
            dinucleotides; transcriptional repression domain (TRD) at the
            C-terminus that is involved in transcription repression and in
            protein interactions. Numerous alternatively spliced transcript
            variants encoding different isoforms have been noted for this
            gene.[provided by RefSeq, Feb 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..573
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     Protein         1..573
                     /product="methyl-CpG-binding domain protein 1 isoform 82"
                     /note="the regulator of fibroblast growth factor 2 (FGF-2)
                     transcription; CXXC-type zinc finger protein 3; protein
                     containing methyl-CpG-binding domain 1"
                     /calculated_mol_wt=63538
     Region          3..76
                     /region_name="MBD"
                     /note="Methyl-CpG binding domain; smart00391"
                     /db_xref="CDD:128673"
     Site            order(18,20,22,30,32,41,44,48)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238690"
     Region          168..215
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     Region          217..262
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     Region          333..379
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     CDS             1..573
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /coded_by="NM_001399927.1:187..1908"
                     /note="isoform 82 is encoded by transcript variant 105"
                     /db_xref="GeneID:4152"
                     /db_xref="HGNC:HGNC:6916"
                     /db_xref="MIM:156535"
ORIGIN      
        1 maedwldcpa lgpgwkrrev frksgatcgr sdtyyqsptg drirskvelt rylgpacdlt
       61 lfdfkqgilc ypapkahpva vaskkrkkps rpaktrkrqv gpqsgevrke aprdetkadt
      121 dtapasfpap gccencgisf sgdgtqrqrl ktlckdcraq riafnreqrm fkrvgcgeca
      181 acqvtedcga cstcllqlph dvasglfckc errrclrive rsrgcgvcrg cqtqedcghc
      241 piclrpprpg lrrqwkcvqr rclrhlahrl rrrhqrcqrr tplavapptg kharrkggcd
      301 skmaarrrpg aqplppppps qspeptepqp ytnrrqnrkc gacaaclrrm dcgrcdfccd
      361 kpkfggsnqk rqkcrwrqcl qfamkrllps vwsesedgag spppyrrrkr pssarrhhlg
      421 ptlkptlatr taqpdhtqap tkqeagggfv lpppgtdlvf lregasspvq vpgpvaaste
      481 allqavdpgl psvkqeppdp eedkeenkdd sasklapeee aggagtpvit eifslggtrf
      541 rdtavwlpry yhlaldwkcn cgyhlccrsv lvp
//
LOCUS       NP_001397917             860 aa            linear   PRI 01-JAN-2023
DEFINITION  TBC1 domain family member 2A isoform 4 [Homo sapiens].
ACCESSION   NP_001397917 XP_047279520
VERSION     NP_001397917.1
DBSOURCE    REFSEQ: accession NM_001410988.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 860)
  AUTHORS   Carroll B, Mohd-Naim N, Maximiano F, Frasa MA, McCormack J, Finelli
            M, Thoresen SB, Perdios L, Daigaku R, Francis RE, Futter C, Dikic I
            and Braga VM.
  TITLE     The TBC/RabGAP Armus coordinates Rac1 and Rab7 functions during
            autophagy
  JOURNAL   Dev Cell 25 (1), 15-28 (2013)
   PUBMED   23562278
  REMARK    GeneRIF: Armus expression induces autophagosome accumulation in
            keratinocytes.
REFERENCE   2  (residues 1 to 860)
  AUTHORS   Popovic D, Akutsu M, Novak I, Harper JW, Behrends C and Dikic I.
  TITLE     Rab GTPase-activating proteins in autophagy: regulation of
            endocytic and autophagy pathways by direct binding to human ATG8
            modifiers
  JOURNAL   Mol Cell Biol 32 (9), 1733-1744 (2012)
   PUBMED   22354992
REFERENCE   3  (residues 1 to 860)
  AUTHORS   Serva A, Knapp B, Tsai YT, Claas C, Lisauskas T, Matula P, Harder
            N, Kaderali L, Rohr K, Erfle H, Eils R, Braga V and Starkuviene V.
  TITLE     miR-17-5p regulates endocytic trafficking through targeting
            TBC1D2/Armus
  JOURNAL   PLoS One 7 (12), e52555 (2012)
   PUBMED   23285084
  REMARK    GeneRIF: TBC1D2/Armus, a GAP of Rab7 GTPase, is reported as a novel
            target of miR-17.
REFERENCE   4  (residues 1 to 860)
  AUTHORS   Cavanillas ML, Fernandez O, Comabella M, Alcina A, Fedetz M,
            Izquierdo G, Lucas M, Cenit MC, Arroyo R, Vandenbroeck K, Alloza I,
            Garcia-Barcina M, Antiguedad A, Leyva L, Gomez CL, Olascoaga J,
            Otaegui D, Blanco Y, Saiz A, Montalban X, Matesanz F and Urcelay E.
  TITLE     Replication of top markers of a genome-wide association study in
            multiple sclerosis in Spain
  JOURNAL   Genes Immun 12 (2), 110-115 (2011)
   PUBMED   20944657
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 860)
  AUTHORS   Letra A, Menezes R, Govil M, Fonseca RF, McHenry T, Granjeiro JM,
            Castilla EE, Orioli IM, Marazita ML and Vieira AR.
  TITLE     Follow-up association studies of chromosome region 9q and
            nonsyndromic cleft lip/palate
  JOURNAL   Am J Med Genet A 152A (7), 1701-1710 (2010)
   PUBMED   20583170
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 860)
  AUTHORS   Frasa MA, Maximiano FC, Smolarczyk K, Francis RE, Betson ME, Lozano
            E, Goldenring J, Seabra MC, Rak A, Ahmadian MR and Braga VM.
  TITLE     Armus is a Rac1 effector that inactivates Rab7 and regulates
            E-cadherin degradation
  JOURNAL   Curr Biol 20 (3), 198-208 (2010)
   PUBMED   20116244
  REMARK    GeneRIF: integration of Rac1 and Rab7 activities by Armus provides
            an important regulatory node for E-cadherin turnover and stability
            of cell-cell contacts
REFERENCE   7  (residues 1 to 860)
  AUTHORS   Ishibashi K, Kanno E, Itoh T and Fukuda M.
  TITLE     Identification and characterization of a novel Tre-2/Bub2/Cdc16
            (TBC) protein that possesses Rab3A-GAP activity
  JOURNAL   Genes Cells 14 (1), 41-52 (2009)
   PUBMED   19077034
REFERENCE   8  (residues 1 to 860)
  AUTHORS   Yoshimura S, Egerer J, Fuchs E, Haas AK and Barr FA.
  TITLE     Functional dissection of Rab GTPases involved in primary cilium
            formation
  JOURNAL   J Cell Biol 178 (3), 363-369 (2007)
   PUBMED   17646400
REFERENCE   9  (residues 1 to 860)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   10 (residues 1 to 860)
  AUTHORS   Zhou Y, Toth M, Hamman MS, Monahan SJ, Lodge PA, Boynton AL and
            Salgaller ML.
  TITLE     Serological cloning of PARIS-1: a new TBC domain-containing,
            immunogenic tumor antigen from a prostate cancer cell line
  JOURNAL   Biochem Biophys Res Commun 290 (2), 830-838 (2002)
   PUBMED   11785977
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL591502.10, AL360081.6 and AL137073.13.
            On Aug 18, 2022 this sequence version replaced XP_047279520.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF318370.1, SRR14038197.1523505.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..860
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.33"
     Protein         1..860
                     /product="TBC1 domain family member 2A isoform 4"
                     /note="TBC1 domain family, member 2A; prostate antigen
                     recognized and identified by SEREX 1; armus"
                     /calculated_mol_wt=97166
     Region          1..169
                     /region_name="Interaction with CADH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYX2.3)"
     Region          1..39
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYX2.3)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9BYX2.3)"
     Region          47..147
                     /region_name="PH_TBC1D2A"
                     /note="TBC1 domain family member 2A pleckstrin homology
                     (PH) domain; cd01265"
                     /db_xref="CDD:269966"
     Region          225..275
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYX2.3)"
     Region          <276..480
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          295..433
                     /region_name="Interaction with RAC1.
                     /evidence=ECO:0000269|PubMed:20116244"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYX2.3)"
     Site            436
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BYX2.3)"
     Region          629..837
                     /region_name="RabGAP-TBC"
                     /note="Rab-GTPase-TBC domain; pfam00566"
                     /db_xref="CDD:425753"
     CDS             1..860
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /coded_by="NM_001410988.1:109..2691"
                     /note="isoform 4 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS94445.1"
                     /db_xref="GeneID:55357"
                     /db_xref="HGNC:HGNC:18026"
                     /db_xref="MIM:609871"
ORIGIN      
        1 megagenape ssssapgsee sardpqvppp eeesgdcars leavpkklcg ylskfggkgp
       61 irgwksrwff yderkcqlyy srtaqdanpl dsidlssavf dckadaeegi feiktpsrvi
      121 tlkaatkqam lywlqqlqmk rwefhnsppa ppatpdaala gngpvlhlel gqeeaeleef
      181 lcpvktppgl vgvaaalqpf palqnislkh lgteiqntmh nirgnkqaqg tgheppgeds
      241 pqsgepqree qplasdastp grepedspkp apkpsltisf aqkakrqnnt fpffsegitr
      301 nrtaqekvaa leqqvlmltk elksqkelvk ilhkaleaaq qekrassayl aaaedkdrle
      361 lvrhkvrqia elgrrveale qereslahta slreqqvqel qqhvqllmdk nhakqqvick
      421 lsekvtqdft hppdqsplrp daanrdflsq qgkiehlkdd meayrtqncf lnseihqvtk
      481 iwrkvaekek alltkcaylq arncqvesky laglrrlqea lgdeasecse llrqlvqeal
      541 qweageassd sielspisky deygfltvpd yevedlklla kiqalesrsh hllgleavdr
      601 plrerwaalg dlvpsaelkq llragvpreh rprvwrwlvh lrvqhlhtpg cyqellsrgq
      661 arehpaarqi eldlnrtfpn nkhftcptss fpdklrrvll afswqnptig ycqglnrlaa
      721 iallvleeee safwclvaiv etimpadyyc ntltasqvdq rvlqdllsek lprlmahlgq
      781 hhvdlslvtf nwflvvfads lisnillrvw daflyegtkv vfryalaifk ynekeilrlq
      841 ngleiyqylr fftktisnsr
//
LOCUS       NP_001381512             928 aa            linear   PRI 29-JAN-2023
DEFINITION  kinase suppressor of Ras 1 isoform 3 [Homo sapiens].
ACCESSION   NP_001381512
VERSION     NP_001381512.1
DBSOURCE    REFSEQ: accession NM_001394583.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 928)
  AUTHORS   Zheng W, Yang Z, Song P, Sun Y, Liu P, Yue L, Lv K, Wang X, Shen Y,
            Si J, Zhang X, Ke Y, Cheng H and Hu W.
  TITLE     SHP2 inhibition mitigates adaptive resistance to MEK inhibitors in
            KRAS-mutant gastric cancer through the suppression of KSR1 activity
  JOURNAL   Cancer Lett 555, 216029 (2023)
   PUBMED   36493900
  REMARK    GeneRIF: SHP2 inhibition mitigates adaptive resistance to MEK
            inhibitors in KRAS-mutant gastric cancer through the suppression of
            KSR1 activity.
REFERENCE   2  (residues 1 to 928)
  AUTHORS   Zhao Z, Zhu L, Xing Y and Zhang Z.
  TITLE     Praja2 suppresses the growth of gastric cancer by ubiquitylation of
            KSR1 and inhibiting MEK-ERK signal pathways
  JOURNAL   Aging (Albany NY) 13 (3), 3886-3897 (2021)
   PUBMED   33461174
  REMARK    GeneRIF: Praja2 suppresses the growth of gastric cancer by
            ubiquitylation of KSR1 and inhibiting MEK-ERK signal pathways.
REFERENCE   3  (residues 1 to 928)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   4  (residues 1 to 928)
  AUTHORS   Kennedy SA, Jarboui MA, Srihari S, Raso C, Bryan K, Dernayka L,
            Charitou T, Bernal-Llinares M, Herrera-Montavez C, Krstic A,
            Matallanas D, Kotlyar M, Jurisica I, Curak J, Wong V, Stagljar I,
            LeBihan T, Imrie L, Pillai P, Lynn MA, Fasterius E, Al-Khalili
            Szigyarto C, Breen J, Kiel C, Serrano L, Rauch N, Rukhlenko O,
            Kholodenko BN, Iglesias-Martinez LF, Ryan CJ, Pilkington R,
            Cammareri P, Sansom O, Shave S, Auer M, Horn N, Klose F, Ueffing M,
            Boldt K, Lynn DJ and Kolch W.
  TITLE     Extensive rewiring of the EGFR network in colorectal cancer cells
            expressing transforming levels of KRASG13D
  JOURNAL   Nat Commun 11 (1), 499 (2020)
   PUBMED   31980649
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 928)
  AUTHORS   Rock S, Li X, Song J, Townsend CM Jr, Weiss HL, Rychahou P, Gao T,
            Li J and Evers BM.
  TITLE     Kinase suppressor of Ras 1 and Exo70 promote fatty acid-stimulated
            neurotensin secretion through ERK1/2 signaling
  JOURNAL   PLoS One 14 (3), e0211134 (2019)
   PUBMED   30917119
  REMARK    GeneRIF: Findings demonstrate a role for kinase suppressor of Ras 1
            as a positive regulator of neurotensin secretion from human
            endocrine cells and indicate that this effect is mediated by the
            extracellular signal-regulated kinase 1 and 2 signaling pathway.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 928)
  AUTHORS   Matheny SA, Chen C, Kortum RL, Razidlo GL, Lewis RE and White MA.
  TITLE     Ras regulates assembly of mitogenic signalling complexes through
            the effector protein IMP
  JOURNAL   Nature 427 (6971), 256-260 (2004)
   PUBMED   14724641
REFERENCE   7  (residues 1 to 928)
  AUTHORS   Roy F and Therrien M.
  TITLE     MAP kinase module: the Ksr connection
  JOURNAL   Curr Biol 12 (9), R325-R327 (2002)
   PUBMED   12007434
REFERENCE   8  (residues 1 to 928)
  AUTHORS   Yin XL, Chen S, Yan J, Hu Y and Gu JX.
  TITLE     Identification of interaction between MEK2 and A-Raf-1
  JOURNAL   Biochim Biophys Acta 1589 (1), 71-76 (2002)
   PUBMED   11909642
REFERENCE   9  (residues 1 to 928)
  AUTHORS   Xing HR, Lozano J and Kolesnick R.
  TITLE     Epidermal growth factor treatment enhances the kinase activity of
            kinase suppressor of Ras
  JOURNAL   J Biol Chem 275 (23), 17276-17280 (2000)
   PUBMED   10764733
REFERENCE   10 (residues 1 to 928)
  AUTHORS   Therrien M, Chang HC, Solomon NM, Karim FD, Wassarman DA and Rubin
            GM.
  TITLE     KSR, a novel protein kinase required for RAS signal transduction
  JOURNAL   Cell 83 (6), 879-888 (1995)
   PUBMED   8521512
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC069366.8 and AC015688.11.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2145743,
                              SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000644974.2/ ENSP00000494552.1
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..928
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     Protein         1..928
                     /product="kinase suppressor of Ras 1 isoform 3"
                     /EC_number="2.7.11.1"
                     /calculated_mol_wt=102965
     Region          41..168
                     /region_name="KSR1-SAM"
                     /note="SAM like domain present in kinase suppressor RAS 1;
                     pfam13543"
                     /db_xref="CDD:404435"
     Region          346..392
                     /region_name="C1_KSR1"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in kinase suppressor of Ras 1 (KSR1) and similar
                     proteins; cd20872"
                     /db_xref="CDD:410422"
     Region          590..868
                     /region_name="STKc_KSR1"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Kinase Suppressor of Ras 1; cd14152"
                     /db_xref="CDD:271054"
     Site            order(597..601,605,615,617,648,664..667,671,673,711,713,
                     715..716,718,728,731,752..755)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:271054"
     Site            order(597,599..601,605,615,617,664..667,713,715..716,718,
                     727..728)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271054"
     Site            order(601,671,673,711,713,715,731,752..755)
                     /site_type="other"
                     /note="putative polypeptide substrate binding site
                     [polypeptide binding]"
                     /db_xref="CDD:271054"
     Site            727..755
                     /site_type="other"
                     /note="putative activation loop (A-loop)"
                     /db_xref="CDD:271054"
     Site            order(747,749..751,763..764,766,802..805,808..810,
                     812..813)
                     /site_type="other"
                     /note="MEK interface [polypeptide binding]"
                     /db_xref="CDD:271054"
     CDS             1..928
                     /gene="KSR1"
                     /gene_synonym="KSR; RSU2"
                     /coded_by="NM_001394583.1:197..2983"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS92281.1"
                     /db_xref="GeneID:8844"
                     /db_xref="HGNC:HGNC:6465"
                     /db_xref="MIM:601132"
ORIGIN      
        1 mdraalraaa mgekkegggg gdaaaaegga gaaasralqq cgqlqklidi sigslrglrt
       61 kcavsndltq qeirtleakl vryickqrqc klsvapgert pelnsyprfs dwlytfnvrp
      121 evvqeiprdl tldallemne akvketlrrc gasgdecgrl qyaltclrkv tglggehked
      181 sswssldarr esgsgpstdt lsaaslpwpp gssqlgragn saqgprsisv salpasdspt
      241 psfseglsdt ciplhasgrl tpralhsfit ppttpqlrrh tklkpprtpp ppsrkvfqll
      301 psfptltrsk shesqlgnri ddvssmrfdl shgspqmvrr diglsvthrf stkswlsqvc
      361 hvcqksmifg vkckhcrlkc hnkctkeapa crisflpltr lrrtesvpsd innpvdraae
      421 phfgtlpkal tkkehppamn hldsssnpss ttsstpsspa pfptssnpss attppnpspg
      481 qrdsrfnfpa ayfihhrqqf ifpdisafah aaplpeaadg trlddqpkad vleaheaeae
      541 epeagkseae ddedevddlp ssrrpwrgpi srkasqtsvy lqewdipfeq velgepigqg
      601 rwgrvhrgrw hgevairlle mdghnqdhlk lfkkevmnyr qtrhenvvlf mgacmnpphl
      661 aiitsfckgr tlhsfvrdpk tsldinktrq iaqeiikgmg ylhakgivhk dlksknvfyd
      721 ngkvvitdfg lfgisgvvre grrenqlkls hdwlcylape ivremtpgkd edqlpfskaa
      781 dvyafgtvwy elqardwplk nqaaeasiwq igsgegmkrv ltsvslgkev seilsacwaf
      841 dlqerpsfsl lmdmleklpk lnrrlshpgh fwksadrwrs ryygkgrygh pdfksscpil
      901 eeyinsskvv prferfglgv lessnpkm
//
LOCUS       NP_065139                437 aa            linear   PRI 07-FEB-2023
DEFINITION  CD177 antigen precursor [Homo sapiens].
ACCESSION   NP_065139 XP_001133374 XP_001134248
VERSION     NP_065139.2
DBSOURCE    REFSEQ: accession NM_020406.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 437)
  AUTHORS   Liao W, Li W, Li Y, Liu T, Wang Y, Feng D and Shen F.
  TITLE     Diagnostic, prognostic, and immunological roles of CD177 in
            cervical cancer
  JOURNAL   J Cancer Res Clin Oncol 149 (1), 173-189 (2023)
   PUBMED   36352147
  REMARK    GeneRIF: Diagnostic, prognostic, and immunological roles of CD177
            in cervical cancer.
REFERENCE   2  (residues 1 to 437)
  AUTHORS   Marino SF, Jerke U, Rolle S, Daumke O and Kettritz R.
  TITLE     Competitively disrupting the neutrophil-specific
            receptor-autoantigen CD177:proteinase 3 membrane complex reduces
            anti-PR3 antibody-induced neutrophil activation
  JOURNAL   J Biol Chem 298 (3), 101598 (2022)
   PUBMED   35063507
  REMARK    GeneRIF: Competitively disrupting the neutrophil-specific
            receptor-autoantigen CD177:proteinase 3 membrane complex reduces
            anti-PR3 antibody-induced neutrophil activation.
REFERENCE   3  (residues 1 to 437)
  AUTHORS   Astarita JL, Keerthivasan S, Husain B, Senbabaoglu Y, Verschueren
            E, Gierke S, Pham VC, Peterson SM, Chalouni C, Pierce AA, Lill JR,
            Gonzalez LC, Martinez-Martin N and Turley SJ.
  TITLE     The neutrophil protein CD177 is a novel PDPN receptor that
            regulates human cancer-associated fibroblast physiology
  JOURNAL   PLoS One 16 (12), e0260800 (2021)
   PUBMED   34879110
  REMARK    GeneRIF: The neutrophil protein CD177 is a novel PDPN receptor that
            regulates human cancer-associated fibroblast physiology.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 437)
  AUTHORS   Kim MC, Borcherding N, Ahmed KK, Voigt AP, Vishwakarma A, Kolb R,
            Kluz PN, Pandey G, De U, Drashansky T, Helm EY, Zhang X,
            Gibson-Corley KN, Klesney-Tait J, Zhu Y, Lu J, Lu J, Huang X, Xiang
            H, Cheng J, Wang D, Wang Z, Tang J, Hu J, Wang Z, Liu H, Li M,
            Zhuang H, Avram D, Zhou D, Bacher R, Zheng SG, Wu X, Zakharia Y and
            Zhang W.
  TITLE     CD177 modulates the function and homeostasis of tumor-infiltrating
            regulatory T cells
  JOURNAL   Nat Commun 12 (1), 5764 (2021)
   PUBMED   34599187
  REMARK    GeneRIF: CD177 modulates the function and homeostasis of
            tumor-infiltrating regulatory T cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 437)
  AUTHORS   Stroncek DF.
  TITLE     Neutrophil-specific antigen HNA-2a, NB1 glycoprotein, and CD177
  JOURNAL   Curr Opin Hematol 14 (6), 688-693 (2007)
   PUBMED   17898576
  REMARK    Review article
REFERENCE   6  (residues 1 to 437)
  AUTHORS   Kissel K, Scheffler S, Kerowgan M and Bux J.
  TITLE     Molecular basis of NB1 (HNA-2a, CD177) deficiency
  JOURNAL   Blood 99 (11), 4231-4233 (2002)
   PUBMED   12010833
REFERENCE   7  (residues 1 to 437)
  AUTHORS   Temerinac S, Klippel S, Strunck E, Roder S, Lubbert M, Lange W,
            Azemar M, Meinhardt G, Schaefer HE and Pahl HL.
  TITLE     Cloning of PRV-1, a novel member of the uPAR receptor superfamily,
            which is overexpressed in polycythemia rubra vera
  JOURNAL   Blood 95 (8), 2569-2576 (2000)
   PUBMED   10753836
REFERENCE   8  (residues 1 to 437)
  AUTHORS   Stroncek DF, Herr GP, Maguire RB, Eiber G and Clement LT.
  TITLE     Characterization of the neutrophil molecules identified by
            quinine-dependent antibodies from two patients
  JOURNAL   Transfusion 34 (11), 980-985 (1994)
   PUBMED   7974707
REFERENCE   9  (residues 1 to 437)
  AUTHORS   Goldschmeding R, van Dalen CM, Faber N, Calafat J, Huizinga TW, van
            der Schoot CE, Clement LT and von dem Borne AE.
  TITLE     Further characterization of the NB 1 antigen as a variably
            expressed 56-62 kD GPI-linked glycoprotein of plasma membranes and
            specific granules of neutrophils
  JOURNAL   Br J Haematol 81 (3), 336-345 (1992)
   PUBMED   1382544
REFERENCE   10 (residues 1 to 437)
  AUTHORS   Lalezari,P., Murphy,G.B. and Allen,F.H. Jr.
  TITLE     NB1, a new neutrophil-specific antigen involved in the pathogenesis
            of neonatal neutropenia
  JOURNAL   J Clin Invest 50 (5), 1108-1115 (1971)
   PUBMED   5552408
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA728784.1, CD514938.1,
            BC029167.1, AY358932.1, AK225226.1, DB323632.1 and BU688145.1.
            On or before Sep 20, 2006 this sequence version replaced
            XP_001133374.1, XP_001134248.1, NP_065139.1.
            
            Summary: This gene encodes a glycosyl-phosphatidylinositol
            (GPI)-linked cell surface glycoprotein that plays a role in
            neutrophil activation. The protein can bind platelet endothelial
            cell adhesion molecule-1 and function in neutrophil transmigration.
            Mutations in this gene are associated with myeloproliferative
            diseases. Over-expression of this gene has been found in patients
            with polycythemia rubra vera. Autoantibodies against the protein
            may result in pulmonary transfusion reactions, and it may be
            involved in Wegener's granulomatosis. A related pseudogene, which
            is adjacent to this gene on chromosome 19, has been identified.
            [provided by RefSeq, Apr 2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.936123.1,
                                           SRR1803617.216737.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000618265.5/ ENSP00000479536.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..437
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.31"
     Protein         1..437
                     /product="CD177 antigen precursor"
                     /note="CD177 antigen; cell surface receptor; NB1
                     glycoprotein; human neutrophil alloantigen 2a;
                     polycythemia rubra vera protein 1"
                     /calculated_mol_wt=44263
     sig_peptide     1..21
                     /note="/evidence=ECO:0000269|PubMed:15340161; propagated
                     from UniProtKB/Swiss-Prot (Q8N6Q3.2)"
                     /calculated_mol_wt=2137
     mat_peptide     22..408
                     /product="CD177 antigen. /id=PRO_0000231643"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6Q3.2)"
                     /calculated_mol_wt=41337
     Region          133..203
                     /region_name="LU"
                     /note="Ly-6 antigen / uPA receptor -like domain; occurs
                     singly in GPI-linked cell-surface glycoproteins (Ly-6
                     family,CD59, thymocyte B cell antigen, Sgp-2) or as
                     three-fold repeated domain in urokinase-type plasminogen
                     activator receptor. Topology of these...; cl10471"
                     /db_xref="CDD:447906"
     Site            189
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6Q3.2)"
     Region          325..394
                     /region_name="LU"
                     /note="Ly-6 antigen / uPA receptor -like domain; occurs
                     singly in GPI-linked cell-surface glycoproteins (Ly-6
                     family,CD59, thymocyte B cell antigen, Sgp-2) or as
                     three-fold repeated domain in urokinase-type plasminogen
                     activator receptor. Topology of these...; cl10471"
                     /db_xref="CDD:447906"
     CDS             1..437
                     /gene="CD177"
                     /gene_synonym="HNA-2a; HNA2A; NB1; NB1 GP; PRV-1; PRV1"
                     /coded_by="NM_020406.4:30..1343"
                     /db_xref="CCDS:CCDS62700.1"
                     /db_xref="GeneID:57126"
                     /db_xref="HGNC:HGNC:30072"
                     /db_xref="MIM:162860"
ORIGIN      
        1 msavlllall gfilplpgvq allcqfgtvq hvwkvsdlpr qwtpkntscd sglgcqdtlm
       61 liesgpqvsl vlskgcteak dqeprvtehr mgpglslisy tfvcrqedfc nnlvnslplw
      121 apqppadpgs lrcpvclsme gclegtteei cpkgtthcyd gllrlrgggi fsnlrvqgcm
      181 pqpvcnllng tqeigpvgmt encdmkdflt chrgttimth gnlaqeptdw ttsntemcev
      241 gqvcqetlll ldvgltstlv gtkgcstvga qnsqkttihs appgvlvasy thfcssdlcn
      301 sassssvlln slppqaapvp gdrqcptcvq plgtcssgsp rmtcprgath cydgyihlsg
      361 gglstkmsiq gcvaqpssfl lnhtrqigif sarekrdvqp pasqheggga eglesltwgv
      421 glalapalww gvvcpsc
//
LOCUS       NP_001245197            1263 aa            linear   PRI 05-MAR-2023
DEFINITION  histone demethylase UTY isoform 23 [Homo sapiens].
ACCESSION   NP_001245197
VERSION     NP_001245197.1
DBSOURCE    REFSEQ: accession NM_001258268.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1263)
  AUTHORS   Cunningham CM, Li M, Ruffenach G, Doshi M, Aryan L, Hong J, Park J,
            Hrncir H, Medzikovic L, Umar S, Arnold AP and Eghbali M.
  TITLE     Y-Chromosome Gene, Uty, Protects Against Pulmonary Hypertension by
            Reducing Proinflammatory Chemokines
  JOURNAL   Am J Respir Crit Care Med 206 (2), 186-196 (2022)
   PUBMED   35504005
  REMARK    GeneRIF: Y-Chromosome Gene, Uty, Protects Against Pulmonary
            Hypertension by Reducing Proinflammatory Chemokines.
REFERENCE   2  (residues 1 to 1263)
  AUTHORS   Pottmeier P, Doszyn O, Peuckert C and Jazin E.
  TITLE     Increased Expression of Y-Encoded Demethylases During
            Differentiation of Human Male Neural Stem Cells
  JOURNAL   Stem Cells Dev 29 (23), 1497-1509 (2020)
   PUBMED   33040644
  REMARK    GeneRIF: Increased Expression of Y-Encoded Demethylases During
            Differentiation of Human Male Neural Stem Cells.
REFERENCE   3  (residues 1 to 1263)
  AUTHORS   Tricarico R, Nicolas E, Hall MJ and Golemis EA.
  TITLE     X- and Y-Linked Chromatin-Modifying Genes as Regulators of
            Sex-Specific Cancer Incidence and Prognosis
  JOURNAL   Clin Cancer Res 26 (21), 5567-5578 (2020)
   PUBMED   32732223
  REMARK    GeneRIF: X- and Y-Linked Chromatin-Modifying Genes as Regulators of
            Sex-Specific Cancer Incidence and Prognosis.
            Review article
REFERENCE   4  (residues 1 to 1263)
  AUTHORS   Fan Z, Zhao W, Fan S, Li C, Qiao J and Xu Y.
  TITLE     Identification of Potential Biomarkers for Intervertebral Disc
            Degeneration Using the Genome-Wide Expression Analysis
  JOURNAL   J Comput Biol 27 (9), 1341-1349 (2020)
   PUBMED   31904996
  REMARK    GeneRIF: Identification of Potential Biomarkers for Intervertebral
            Disc Degeneration Using the Genome-Wide Expression Analysis.
REFERENCE   5  (residues 1 to 1263)
  AUTHORS   Gazova I, Lengeling A and Summers KM.
  TITLE     Lysine demethylases KDM6A and UTY: The X and Y of histone
            demethylation
  JOURNAL   Mol Genet Metab 127 (1), 31-44 (2019)
   PUBMED   31097364
  REMARK    GeneRIF: UTY is co-regulated with KDM6A. UTY compensates for KDM6A
            in eutherian males and is responsible for the association between
            the loss of the Y chromosome and poor prognosis in a range of
            cancers. [review]
            Review article
REFERENCE   6  (residues 1 to 1263)
  AUTHORS   Laaser I, Theis FJ, de Angelis MH, Kolb HJ and Adamski J.
  TITLE     Huge splicing frequency in human Y chromosomal UTY gene
  JOURNAL   OMICS 15 (3), 141-154 (2011)
   PUBMED   21329462
REFERENCE   7  (residues 1 to 1263)
  AUTHORS   Warren EH, Gavin MA, Simpson E, Chandler P, Page DC, Disteche C,
            Stankey KA, Greenberg PD and Riddell SR.
  TITLE     The human UTY gene encodes a novel HLA-B8-restricted H-Y antigen
  JOURNAL   J Immunol 164 (5), 2807-2814 (2000)
   PUBMED   10679124
REFERENCE   8  (residues 1 to 1263)
  AUTHORS   Grbavec D, Lo R, Liu Y, Greenfield A and Stifani S.
  TITLE     Groucho/transducin-like enhancer of split (TLE) family members
            interact with the yeast transcriptional co-repressor SSN6 and
            mammalian SSN6-related proteins: implications for evolutionary
            conservation of transcription repression mechanisms
  JOURNAL   Biochem J 337 (Pt 1) (Pt 1), 13-17 (1999)
   PUBMED   9854018
REFERENCE   9  (residues 1 to 1263)
  AUTHORS   Greenfield A, Carrel L, Pennisi D, Philippe C, Quaderi N, Siggers
            P, Steiner K, Tam PP, Monaco AP, Willard HF and Koopman P.
  TITLE     The UTX gene escapes X inactivation in mice and humans
  JOURNAL   Hum Mol Genet 7 (4), 737-742 (1998)
   PUBMED   9499428
REFERENCE   10 (residues 1 to 1263)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Functional coherence of the human Y chromosome
  JOURNAL   Science 278 (5338), 675-680 (1997)
   PUBMED   9381176
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006376.2, EF612662.1 and
            AC010877.3.
            
            Summary: This gene encodes a protein containing tetratricopeptide
            repeats which are thought to be involved in protein-protein
            interactions. The encoded protein is also a minor
            histocompatibility antigen which may induce graft rejection of male
            stem cell grafts. A large number of alternatively spliced
            transcripts have been observed for this gene, but the full length
            nature of some of these variants has not been determined. [provided
            by RefSeq, Apr 2012].
            
            Transcript Variant: This variant (23) has multiple differences in
            the coding region, one of which results in a frameshift, compared
            to variant 4. The encoded isoform (23) is shorter and has a
            distinct C-terminus, compared to isoform 4.
            
            Sequence Note: This RefSeq record was created based on a transcript
            variant reported in PMID: 21329462, and assembled from transcript
            and genomic sequence data to make the sequence consistent with the
            reference genome assembly.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EF612662.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1263
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.221"
     Protein         1..1263
                     /product="histone demethylase UTY isoform 23"
                     /EC_number="1.14.11.68"
                     /note="ubiquitously transcribed tetratricopeptide repeat
                     gene, Y chromosome; ubiquitously transcribed TPR gene on Y
                     chromosome; histone demethylase UTY; [histone
                     H3]-trimethyl-L-lysine(27) demethylase UTY; ubiquitous TPR
                     motif protein UTY; ubiquitously-transcribed TPR protein on
                     the Y chromosome; ubiquitously-transcribed Y chromosome
                     tetratricopeptide repeat protein; ubiquitously transcribed
                     tetratricopeptide repeat gene, Y-linked"
                     /calculated_mol_wt=140978
     Region          90..118
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(91,94..95,98..99,101,128,131..132,135..136,138..139,
                     162,168..169,172..173,176)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          103..375
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          126..156
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          161..191
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          202..230
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          240..275
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(282,285..286,289..290,292,316,319..320,323..324,
                     326..327,350,353..354,357..358,361)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          282..309
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          314..344
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          349..377
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          967..1031
                     /region_name="JmjC"
                     /note="A domain family that is part of the cupin
                     metalloenzyme superfamily; smart00558"
                     /db_xref="CDD:214721"
     Region          1001..1109
                     /region_name="JmjC"
                     /note="JmjC domain, hydroxylase; pfam02373"
                     /db_xref="CDD:396791"
     CDS             1..1263
                     /gene="UTY"
                     /gene_synonym="KDM6AL; KDM6C; UTY1"
                     /coded_by="NM_001258268.1:1006..4797"
                     /note="isoform 23 is encoded by transcript variant 23"
                     /db_xref="GeneID:7404"
                     /db_xref="HGNC:HGNC:12638"
                     /db_xref="MIM:400009"
ORIGIN      
        1 mkscavsltt aavafgdeak kmaegkasre seeesvsltv eerealggmd srlfgfvrlh
       61 edgartktll gkavrcyesl ilkaegkves dffcqlghfn llledyskal sayqryyslq
      121 adywknaafl yglglvyfyy nafhwaikaf qdvlyvdpsf crakeihlrl glmfkvntdy
      181 ksslkhfqla lidcnpctls naeiqfhiah lyetqrkyhs akeayeqllq tenlpaqvka
      241 tvlqqlgwmh hnmdlvgdka tkesyaiqyl qksleadpns gqswyflgrc yssigkvqda
      301 fisyrqsidk seasadtwcs igvlyqqqnq pmdalqayic avqldhghaa awmdlgtlye
      361 scnqpqdaik cylnaarskr csntstlaar ikflqaqlcn lpqsslqnkt kllpsieeaw
      421 slpipaelts rqgamntaqq ngsdnwnggq slshhpvqqv yslcltpqkl qhleqlranr
      481 dnlnpaqkhq leqlesqfvl mqqmrhkeva qglhksqssc lsgpneeqpl fstgsaqyhq
      541 atstgikkan ehltlpsnsv pqgdadshls chtatsggqq gimftkeskp sknrslvpet
      601 srhtgdtsng cadvkglsnh vhqliadavs spnhgdspnl liadnpqlsa lligkangnv
      661 gtgtcdkvnn ihpavhtktd hsvasspssa istatpspks teqrsinsvt slnsphsglh
      721 tvngeglgks qsstkvdlpl ashrstsqil psmsvsicps stevlkacrn pgknglsnsc
      781 illdkcpppr pptspypplp kdklnpptps iylenkrdaf fpplhqfctn pknpvtvirg
      841 lagalkldlg lfstktlvea nnehmvevrt qllqpadenw dptgtkkiwr cesnrshtti
      901 akyaqyqass fqeslreene krtqhkdhsd nestssensg rrrkgpfkti kfgtnidlsd
      961 nkkwklqlhe ltklpafarv vsagnllthv ghtilgmntv qlymkvpgsr tpghqennnf
     1021 csvninigpg dcewfvvped ywgvlndfce knnlnflmss wwpnledlye anvpvyrfiq
     1081 rpgdlvwina gtvhwvqavg wcnniawnvg pltacqykla veryewnklk svkspvpmvh
     1141 lswnmarnik vsdpklfemi kycllkilkq yqtlrealva agkeviwhgr tndepahycs
     1201 icevevfnll fvtnesntqk tyivhchdca rktskslenf vvleqykmed liqvydqftl
     1261 vsh
//
LOCUS       NP_003065               1105 aa            linear   PRI 12-MAR-2023
DEFINITION  SWI/SNF complex subunit SMARCC1 [Homo sapiens].
ACCESSION   NP_003065
VERSION     NP_003065.3
DBSOURCE    REFSEQ: accession NM_003074.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1105)
  AUTHORS   Dong C, Zhang R, Xu L, Liu B and Chu X.
  TITLE     Assembly and interaction of core subunits of BAF complexes and
            crystal study of the SMARCC1/SMARCE1 binary complex
  JOURNAL   Biochem Biophys Res Commun 599, 9-16 (2022)
   PUBMED   35158202
  REMARK    GeneRIF: Assembly and interaction of core subunits of BAF complexes
            and crystal study of the SMARCC1/SMARCE1 binary complex.
REFERENCE   2  (residues 1 to 1105)
  AUTHORS   Gonzalez-Teran B, Pittman M, Felix F, Thomas R, Richmond-Buccola D,
            Huttenhain R, Choudhary K, Moroni E, Costa MW, Huang Y, Padmanabhan
            A, Alexanian M, Lee CY, Maven BEJ, Samse-Knapp K, Morton SU,
            McGregor M, Gifford CA, Seidman JG, Seidman CE, Gelb BD, Colombo G,
            Conklin BR, Black BL, Bruneau BG, Krogan NJ, Pollard KS and
            Srivastava D.
  TITLE     Transcription factor protein interactomes reveal genetic
            determinants in heart disease
  JOURNAL   Cell 185 (5), 794-814 (2022)
   PUBMED   35182466
REFERENCE   3  (residues 1 to 1105)
  AUTHORS   Kim M, Park J, Bouhaddou M, Kim K, Rojc A, Modak M, Soucheray M,
            McGregor MJ, O'Leary P, Wolf D, Stevenson E, Foo TK, Mitchell D,
            Herrington KA, Munoz DP, Tutuncuoglu B, Chen KH, Zheng F, Kreisberg
            JF, Diolaiti ME, Gordan JD, Coppe JP, Swaney DL, Xia B, van 't Veer
            L, Ashworth A, Ideker T and Krogan NJ.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   4  (residues 1 to 1105)
  AUTHORS   Allen MD, Freund SMV, Bycroft M and Zinzalla G.
  TITLE     SWI/SNF subunit BAF155 N-terminus structure informs the impact of
            cancer-associated mutations and reveals a potential drug binding
            site
  JOURNAL   Commun Biol 4 (1), 528 (2021)
   PUBMED   33953332
  REMARK    GeneRIF: SWI/SNF subunit BAF155 N-terminus structure informs the
            impact of cancer-associated mutations and reveals a potential drug
            binding site.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1105)
  AUTHORS   Woodley CM, Romer AS, Wang J, Guarnaccia AD, Elion DL, Maxwell JN,
            Guerrazzi K, McCann TS, Popay TM, Matlock BK, Flaherty DK, Lorey
            SL, Liu Q, Tansey WP and Weissmiller AM.
  TITLE     Multiple interactions of the oncoprotein transcription factor MYC
            with the SWI/SNF chromatin remodeler
  JOURNAL   Oncogene 40 (20), 3593-3609 (2021)
   PUBMED   33931740
  REMARK    GeneRIF: Multiple interactions of the oncoprotein transcription
            factor MYC with the SWI/SNF chromatin remodeler.
REFERENCE   6  (residues 1 to 1105)
  AUTHORS   Ring HZ, Vameghi-Meyers V, Wang W, Crabtree GR and Francke U.
  TITLE     Five SWI/SNF-related, matrix-associated, actin-dependent regulator
            of chromatin (SMARC) genes are dispersed in the human genome
  JOURNAL   Genomics 51 (1), 140-143 (1998)
   PUBMED   9693044
REFERENCE   7  (residues 1 to 1105)
  AUTHORS   Fryer CJ and Archer TK.
  TITLE     Chromatin remodelling by the glucocorticoid receptor requires the
            BRG1 complex
  JOURNAL   Nature 393 (6680), 88-91 (1998)
   PUBMED   9590696
REFERENCE   8  (residues 1 to 1105)
  AUTHORS   Reyes JC, Muchardt C and Yaniv M.
  TITLE     Components of the human SWI/SNF complex are enriched in active
            chromatin and are associated with the nuclear matrix
  JOURNAL   J Cell Biol 137 (2), 263-274 (1997)
   PUBMED   9128241
REFERENCE   9  (residues 1 to 1105)
  AUTHORS   Wang W, Cote J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C,
            Kalpana GV, Goff SP, Yaniv M, Workman JL and Crabtree GR.
  TITLE     Purification and biochemical heterogeneity of the mammalian SWI-SNF
            complex
  JOURNAL   EMBO J 15 (19), 5370-5382 (1996)
   PUBMED   8895581
REFERENCE   10 (residues 1 to 1105)
  AUTHORS   Wang W, Xue Y, Zhou S, Kuo A, Cairns BR and Crabtree GR.
  TITLE     Diversity and specialization of mammalian SWI/SNF complexes
  JOURNAL   Genes Dev 10 (17), 2117-2130 (1996)
   PUBMED   8804307
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC012101.1, BC050564.1, BC040242.1 and AC112512.6.
            On May 20, 2008 this sequence version replaced NP_003065.2.
            
            Summary: The protein encoded by this gene is a member of the
            SWI/SNF family of proteins, whose members display helicase and
            ATPase activities and which are thought to regulate transcription
            of certain genes by altering the chromatin structure around those
            genes. The encoded protein is part of the large ATP-dependent
            chromatin remodeling complex SNF/SWI and contains a predicted
            leucine zipper motif typical of many transcription factors.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U66615.1, BC050564.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000254480.10/ ENSP00000254480.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1105
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..1105
                     /product="SWI/SNF complex subunit SMARCC1"
                     /note="chromatin remodeling complex BAF155 subunit;
                     SWI/SNF complex 155 kDa subunit; mammalian chromatin
                     remodeling complex BRG1-associated factor 155;
                     SWI/SNF-related matrix-associated actin-dependent
                     regulator of chromatin subfamily C member 1"
                     /calculated_mol_wt=122736
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.3,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     Region          35..445
                     /region_name="SWIRM-assoc_2"
                     /note="SWIRM-associated domain at the N-terminal;
                     pfam16496"
                     /db_xref="CDD:435378"
     Region          296..439
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92922.3)"
     Site            310
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q92922.3)"
     Site            328
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     Site            330
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     Site            335
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     Site            345
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     Site            346
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     Site            350
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     Site            354
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     Site            357
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     Site            359
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     Site            398
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     Region          444..>710
                     /region_name="RSC8"
                     /note="RSC chromatin remodeling complex subunit RSC8
                     [Chromatin structure and dynamics / Transcription];
                     COG5259"
                     /db_xref="CDD:227584"
     Site            573
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     Region          706..770
                     /region_name="SWIRM-assoc_3"
                     /note="SWIRM-associated domain at the C-terminal;
                     pfam16498"
                     /db_xref="CDD:435380"
     Region          745..860
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92922.3)"
     Site            822
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     Site            825
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     Region          883..954
                     /region_name="SWIRM-assoc_1"
                     /note="SWIRM-associated region 1; pfam16495"
                     /db_xref="CDD:435377"
     Site            948
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     Region          956..1028
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92922.3)"
     Region          1041..1105
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92922.3)"
     Site            1064
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:P97496; propagated from
                     UniProtKB/Swiss-Prot (Q92922.3)"
     CDS             1..1105
                     /gene="SMARCC1"
                     /gene_synonym="BAF155; CRACC1; HYC5; Rsc8; SRG3; SWI3"
                     /coded_by="NM_003074.4:97..3414"
                     /db_xref="CCDS:CCDS2758.1"
                     /db_xref="GeneID:6599"
                     /db_xref="HGNC:HGNC:11104"
                     /db_xref="MIM:601732"
ORIGIN      
        1 maaaaggggp gtavgatgsg iaaaaaglav yrrkdggpat kfwespetvs qldsvrvwlg
       61 khykkyvhad aptnktlagl vvqllqfqed afgkhvtnpa ftklpakcfm dfkaggalch
      121 ilgaaykykn eqgwrrfdlq npsrmdrnve mfmniektlv qnncltrpni ylipdidlkl
      181 anklkdiikr hqgtftdeks kashhiypys ssqddeewlr pvmrkekqvl vhwgfypdsy
      241 dtwvhsndvd aeiedppipe kpwkvhvkwi ldtdifnewm needyevden rkpvsfrqri
      301 stkneepvrs perrdrkasa narkrkhsps pppptptesr kksgkkgqas lygkrrsqke
      361 edeqedltkd medptpvpni eevvlpknvn lkkdsentpv kggtvadlde qdeetvtagg
      421 kededpakgd qsrsvdlged nvteqtnhii ipsyaswfdy ncihvierra lpeffngknk
      481 sktpeiylay rnfmidtyrl npqeyltsta crrnltgdvc avmrvhafle qwglvnyqvd
      541 pesrpmamgp pptphfnvla dtpsglvplh lrspqvpaaq qmlnfpeknk ekpvdlqnfg
      601 lrtdiyskkt lakskgasag rewteqetll llealemykd dwnkvsehvg srtqdecilh
      661 flrlpiedpy lensdaslgp layqpvpfsq sgnpvmstva flasvvdprv asaaakaale
      721 efsrvreevp lelveahvkk vqeaarasgk vdptygless ciagtgpdep eklegaeeek
      781 meadpdgqqp ekaenkvene tdegdkaqdg eneknsekeq dsevsedtks eeketeenke
      841 ltdtckeres dtgkkkvehe isegnvataa aaalasaatk akhlaaveer kikslvallv
      901 etqmkkleik lrhfeeleti mdrekealeq qrqqllterq nfhmeqlkya elrarqqmeq
      961 qqhgqnpqqa hqhsggpgla plgaaghpgm mphqqpppyp lmhhqmppph ppqpgqipgp
     1021 gsmmpgqhmp grmiptvaan ihpsgsgptp pgmppmpgni lgprvpltap ngmyppppqq
     1081 qppppppadg vppppapgpp asaap
//
LOCUS       NP_001339580            2063 aa            linear   PRI 16-MAR-2023
DEFINITION  pericentriolar material 1 protein isoform 19 [Homo sapiens].
ACCESSION   NP_001339580 XP_016868965
VERSION     NP_001339580.2
DBSOURCE    REFSEQ: accession NM_001352651.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2063)
  AUTHORS   Wang L, Paudyal SC, Kang Y, Owa M, Liang FX, Spektor A, Knaut H,
            Sanchez I and Dynlacht BD.
  TITLE     Regulators of tubulin polyglutamylation control nuclear shape and
            cilium disassembly by balancing microtubule and actin assembly
  JOURNAL   Cell Res 32 (2), 190-209 (2022)
   PUBMED   34782749
REFERENCE   2  (residues 1 to 2063)
  AUTHORS   Liu WN, Wu KX, Wang XT, Lin LR, Tong ML and Liu LL.
  TITLE     LncRNA-ENST00000421645 promotes T cells to secrete IFN-gamma by
            sponging PCM1 in neurosyphilis
  JOURNAL   Epigenomics 13 (15), 1187-1203 (2021)
   PUBMED   34382410
  REMARK    GeneRIF: LncRNA-ENST00000421645 promotes T cells to secrete
            IFN-gamma by sponging PCM1 in neurosyphilis.
REFERENCE   3  (residues 1 to 2063)
  AUTHORS   Monroe TO, Garrett ME, Kousi M, Rodriguiz RM, Moon S, Bai Y, Brodar
            SC, Soldano KL, Savage J, Hansen TF, Muzny DM, Gibbs RA, Barak L,
            Sullivan PF, Ashley-Koch AE, Sawa A, Wetsel WC, Werge T and
            Katsanis N.
  TITLE     PCM1 is necessary for focal ciliary integrity and is a candidate
            for severe schizophrenia
  JOURNAL   Nat Commun 11 (1), 5903 (2020)
   PUBMED   33214552
  REMARK    GeneRIF: PCM1 is necessary for focal ciliary integrity and is a
            candidate for severe schizophrenia.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 2063)
  AUTHORS   Wang P, Xia J, Zhang L, Zhao S, Li S, Wang H, Cheng S, Li H, Yin W,
            Pei D and Shu X.
  TITLE     SNX17 Recruits USP9X to Antagonize MIB1-Mediated Ubiquitination and
            Degradation of PCM1 during Serum-Starvation-Induced Ciliogenesis
  JOURNAL   Cells 8 (11), 1335 (2019)
   PUBMED   31671755
  REMARK    GeneRIF: SNX17 Recruits USP9X to Antagonize MIB1-Mediated
            Ubiquitination and Degradation of PCM1 during
            Serum-Starvation-Induced Ciliogenesis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 2063)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 2063)
  AUTHORS   Corvi R, Berger N, Balczon R and Romeo G.
  TITLE     RET/PCM-1: a novel fusion gene in papillary thyroid carcinoma
  JOURNAL   Oncogene 19 (37), 4236-4242 (2000)
   PUBMED   10980597
REFERENCE   7  (residues 1 to 2063)
  AUTHORS   Engelender S, Sharp AH, Colomer V, Tokito MK, Lanahan A, Worley P,
            Holzbaur EL and Ross CA.
  TITLE     Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued
            subunit of dynactin
  JOURNAL   Hum Mol Genet 6 (13), 2205-2212 (1997)
   PUBMED   9361024
REFERENCE   8  (residues 1 to 2063)
  AUTHORS   Golsteyn RM, Mundt KE, Fry AM and Nigg EA.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
REFERENCE   9  (residues 1 to 2063)
  AUTHORS   Ohata H, Fujiwara Y, Koyama K and Nakamura Y.
  TITLE     Mapping of the human autoantigen pericentriolar material 1 (PCM1)
            gene to chromosome 8p21.3-p22
  JOURNAL   Genomics 24 (2), 404-406 (1994)
   PUBMED   7698772
REFERENCE   10 (residues 1 to 2063)
  AUTHORS   Balczon R, Bao L and Zimmer WE.
  TITLE     PCM-1, A 228-kD centrosome autoantigen with a distinct cell cycle
            distribution
  JOURNAL   J Cell Biol 124 (5), 783-793 (1994)
   PUBMED   8120099
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087273.5 and AC087625.12.
            On Jun 3, 2019 this sequence version replaced NP_001339580.1.
            
            Summary: The protein encoded by this gene is a component of
            centriolar satellites, which are electron dense granules scattered
            around centrosomes. Inhibition studies show that this protein is
            essential for the correct localization of several centrosomal
            proteins, and for anchoring microtubules to the centrosome.
            Chromosomal aberrations involving this gene are associated with
            papillary thyroid carcinomas and a variety of hematological
            malignancies, including atypical chronic myeloid leukemia and
            T-cell lymphoma. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Oct
            2015].
            
            Transcript Variant: This variant (23), as well as variant 22,
            encodes isoform 19.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.4229015.1,
                                           SRR14038196.1859079.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2063
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22"
     Protein         1..2063
                     /product="pericentriolar material 1 protein isoform 19"
                     /note="pericentriolar material 1 protein; pericentriolar
                     material 1, PCM1; PCM-1; hPCM-1"
                     /calculated_mol_wt=232482
     Region          1..92
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            65
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            68
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            69
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            93
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            110
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Region          111..163
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            116
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            119
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            159
                     /site_type="phosphorylation"
                     /note="Phosphoserine, in variant Ser-159.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Region          226..>463
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          393..431
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            409
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            411
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PLK4.
                     /evidence=ECO:0000269|PubMed:30804208,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            423
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            438
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Region          461..531
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Region          562..587
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            627
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Region          653..691
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            682
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0L6; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Region          738..765
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            898
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            900
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            905
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0L6; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            908
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0L6; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            911
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0L6; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            916
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0L6; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Region          954..986
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            999
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1016
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1027
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1030
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Region          1124..1148
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Region          1191..1250
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1224
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1227
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0L6; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1268
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1270
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Region          1271..1381
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1296
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1299
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1301
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0L6; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1302
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Region          1318..1838
                     /region_name="Interaction with HAP1.
                     /evidence=ECO:0000269|PubMed:9361024"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1353..1354
                     /site_type="other"
                     /note="Breakpoint for translocation to form PCM1-JAK2
                     fusion protein; propagated from UniProtKB/Swiss-Prot
                     (Q15154.5)"
     Site            1357
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0L6; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1359
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0L6; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1408..1409
                     /site_type="other"
                     /note="Breakpoint for translocation to form PCM1-JAK2
                     fusion protein; propagated from UniProtKB/Swiss-Prot
                     (Q15154.5)"
     Region          1411..2037
                     /region_name="PCM1_C"
                     /note="Pericentriolar material 1 C-terminus; pfam15717"
                     /db_xref="CDD:434880"
     Site            1507
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1509..1510
                     /site_type="other"
                     /note="Breakpoint for translocation to form PCM1-JAK2
                     fusion protein; propagated from UniProtKB/Swiss-Prot
                     (Q15154.5)"
     Site            1612
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0L6; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1648..1649
                     /site_type="other"
                     /note="Breakpoint for translocation to form PCM1-RET
                     fusion protein; propagated from UniProtKB/Swiss-Prot
                     (Q15154.5)"
     Site            1736
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Region          1764..1907
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1769
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1804
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1807
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1815
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1821
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0L6; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Region          1919..1983
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Region          1952..2063
                     /region_name="Interaction with BBS4.
                     /evidence=ECO:0000269|PubMed:15107855"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     Site            1986..1987
                     /site_type="other"
                     /note="Breakpoint for translocation to form PCM1-JAK2
                     fusion protein; propagated from UniProtKB/Swiss-Prot
                     (Q15154.5)"
     Site            1997
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Site            2016
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15154.5)"
     Region          2044..2063
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15154.5)"
     CDS             1..2063
                     /gene="PCM1"
                     /gene_synonym="PTC4; RET/PCM-1"
                     /coded_by="NM_001352651.2:224..6415"
                     /note="isoform 19 is encoded by transcript variant 23"
                     /db_xref="GeneID:5108"
                     /db_xref="HGNC:HGNC:8727"
                     /db_xref="MIM:600299"
ORIGIN      
        1 matgggpfed gmndqdlpnw snenvddrln nmdwgaqqkk anrsseknkk kfgvesdkrv
       61 tndispessp gvgrrrtktp htfphsryms qmsvpeqael eklkqrinfs dldqrsigsd
      121 sqgrataann krqlsenrkp fnflpmqint nkskdastnp pnretigsaq ckelfasals
      181 ndllqncqvs eedgrgepam essqivsrlv qirdyitkas smredlvekn ersanverlt
      241 hlidhlkeqe ksymkflkki lareneeedv rtidsavgsg svaestslni dvqseasdtt
      301 ardpqqepme eienlkkqhd llkrmlqqqe qlralqgrqa allalqhkae qaiavmddsv
      361 vaetagslsg vsitselnee lndliqrfhn qlrdsqppav pdnrrqaesl sltrevsqsr
      421 kpsaserlpd ekvelfskmr vlqekkqkmd kllgelhtlr dqhlnnssss pqrsvdqrst
      481 sapsasvgla pvvngesnsl tssvpyptas lvsqnesene ghlnpseklq klnevrkrln
      541 elrelvhyye qtsdmmtdav nenrkdeete eseydsehen sepvtnirnp qvastwnevn
      601 shsnaqcvsn nrdgrtvnsn ceinnrsaan iralnmppsl dcrynregeq eihvaqgedd
      661 eeeeeeaeee gvsgaslssh rsslvdehpe daefeqkinr lmaakqklrq lqdlvamvqd
      721 ddaaqgvisa sasnlddfyp aeedtkqnsn ntrgnanktq kdtgvnekar ekfyeaklqq
      781 qqrelkqlqe erkklidiqe kiqalqtacp dlqlsaasvg ncptkkympa vtstptvnqh
      841 etstsksvfe pedssivdne lwsemrrhem lreelrqrrk qlealmaehq rrqglaetas
      901 pvavslrsdg senlctpqqs rtektmatwg gstqcaldee gdedgylseg ivrtdeeeee
      961 eqdassndnf svcpsnsvnh nsyngketkn rwknncpfsa denyrplakt rqqnismqrq
     1021 enlrwvsels yveekeqwqe qinqlkkqld fsvsicqtlm qdqqtlscll qtlltgpysv
     1081 mpsnvaspqv hfimhqlnqc ytqltwqqnn vqrlkqmlne lmrqqnqhpe kpggkergss
     1141 ashppspslf cpfsfptqpv nlfnipgftn fssfapgmnf splfpsnfgd fsqnistpse
     1201 qqqplaqnss gkteymafpk pfessssiga ekprnkklpe eevessrtpw lyeqegevek
     1261 pfiktgfsvs vekstssnrk nqldtngrrr qfdeeslesf ssmpdpvdpt tvtktfktrk
     1321 asaqaslask dktpkskskk rnstqlksrv kniryesasm sstcepcksr nrhsaqteep
     1381 vqakvfsrkn heqlekiikc nrsteisset gsdfsmfeal rdtiysevat lisqnesrph
     1441 flielfhelq llntdylrqr alyalqdivs rhiseshekg envksvnsgt wiasnseltp
     1501 seslattdde tfeknferet hkiseqndad nasvlsvssn fepfatddlg ntvihldqal
     1561 armreyermk teaesnsnmr ctcriiedgd gagagttvnn leetpvienr ssqqpvsevs
     1621 tipcpridtq qldrqikaim kevipflkeh mdevcssqll tsvrrmvltl tqqndeskef
     1681 vkffhkqlgs ilqdslakfa grklkdcged llveisevlf nelaffklmq dldnnsitvk
     1741 qrckrkieat gviqscakea kriledhgsp ageiddedkd kdetetvkqt qtsevydgpk
     1801 nvrsdisdqe edeesegcpv sinlskaetq altnygsged enedeemeef eegpvdvqts
     1861 lqanteatee nehdeqvlqr dfkktaeskn vplereatsk ndqnncpvkp cylniledeq
     1921 plnsaahkes pptvdstqqp nplplrlpem eplvprvkev ksaqetpess lagspdtesp
     1981 vlvndyeaes gnisqksdee dfvkvedlpl kltiyseadl rkkmveeeqk nhlsgeicem
     2041 qteelagnse tlkepetvga qsi
//
LOCUS       NP_000162                449 aa            linear   PRI 16-MAR-2023
DEFINITION  glycine receptor subunit alpha-1 isoform 2 precursor [Homo
            sapiens].
ACCESSION   NP_000162
VERSION     NP_000162.2
DBSOURCE    REFSEQ: accession NM_000171.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 449)
  AUTHORS   Tezen D, Simsir G, Cokar O, Demirbilek V, Basak AN and Yapici Z.
  TITLE     Four Turkish families with hyperekplexia: A missense mutation and
            the exon 1-7 deletion in the GLRA1 gene
  JOURNAL   Parkinsonism Relat Disord 105, 128-131 (2022)
   PUBMED   36434917
  REMARK    GeneRIF: Four Turkish families with hyperekplexia: A missense
            mutation and the exon 1-7 deletion in the GLRA1 gene.
REFERENCE   2  (residues 1 to 449)
  AUTHORS   Wu Z, Lape R, Jopp-Saile L, O'Callaghan BJ, Greiner T and Sivilotti
            LG.
  TITLE     The startle disease mutation alpha1S270T predicts shortening of
            glycinergic synaptic currents
  JOURNAL   J Physiol 598 (16), 3417-3438 (2020)
   PUBMED   32445491
  REMARK    GeneRIF: The startle disease mutation alpha1S270T predicts
            shortening of glycinergic synaptic currents.
REFERENCE   3  (residues 1 to 449)
  AUTHORS   Langlhofer G, Schaefer N, Maric HM, Keramidas A, Zhang Y, Baumann
            P, Blum R, Breitinger U, Stromgaard K, Schlosser A, Kessels MM,
            Koch D, Qualmann B, Breitinger HG, Lynch JW and Villmann C.
  TITLE     A Novel Glycine Receptor Variant with Startle Disease Affects
            Syndapin I and Glycinergic Inhibition
  JOURNAL   J Neurosci 40 (25), 4954-4969 (2020)
   PUBMED   32354853
  REMARK    GeneRIF: A Novel Glycine Receptor Variant with Startle Disease
            Affects Syndapin I and Glycinergic Inhibition.
REFERENCE   4  (residues 1 to 449)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 449)
  AUTHORS   Zou G, Xia J, Han Q, Liu D and Xiong W.
  TITLE     The synthetic cannabinoid dehydroxylcannabidiol restores the
            function of a major GABAA receptor isoform in a cell model of
            hyperekplexia
  JOURNAL   J Biol Chem 295 (1), 138-145 (2020)
   PUBMED   31757808
  REMARK    GeneRIF: The synthetic cannabinoid dehydroxylcannabidiol restores
            the function of a major GABAA receptor isoform in a cell model of
            hyperekplexia.
REFERENCE   6  (residues 1 to 449)
  AUTHORS   Balint,B. and Thomas,R.
  TITLE     Hereditary Hyperekplexia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301437
REFERENCE   7  (residues 1 to 449)
  AUTHORS   Ryan SG, Dixon MJ, Nigro MA, Kelts KA, Markand ON, Terry JC, Shiang
            R, Wasmuth JJ and O'Connell P.
  TITLE     Genetic and radiation hybrid mapping of the hyperekplexia region on
            chromosome 5q
  JOURNAL   Am J Hum Genet 51 (6), 1334-1343 (1992)
   PUBMED   1334371
REFERENCE   8  (residues 1 to 449)
  AUTHORS   Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC and Mackey RW.
  TITLE     Startle disease, or hyperekplexia: response to clonazepam and
            assignment of the gene (STHE) to chromosome 5q by linkage analysis
  JOURNAL   Ann Neurol 31 (6), 663-668 (1992)
   PUBMED   1355335
REFERENCE   9  (residues 1 to 449)
  AUTHORS   Ruiz-Gomez A, Vaello ML, Valdivieso F and Mayor F Jr.
  TITLE     Phosphorylation of the 48-kDa subunit of the glycine receptor by
            protein kinase C
  JOURNAL   J Biol Chem 266 (1), 559-566 (1991)
   PUBMED   1845981
REFERENCE   10 (residues 1 to 449)
  AUTHORS   Grenningloh G, Schmieden V, Schofield PR, Seeburg PH, Siddique T,
            Mohandas TK, Becker CM and Betz H.
  TITLE     Alpha subunit variants of the human glycine receptor: primary
            structures, functional expression and chromosomal localization of
            the corresponding genes
  JOURNAL   EMBO J 9 (3), 771-776 (1990)
   PUBMED   2155780
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010312.5, X52009.1,
            AK312702.1, BC074980.2 and AK226046.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 13, 2006 this sequence version replaced NP_000162.1.
            
            Summary: The protein encoded by this gene is a subunit of a
            pentameric inhibitory glycine receptor, which mediates postsynaptic
            inhibition in the central nervous system. Defects in this gene are
            a cause of startle disease (STHE), also known as hereditary
            hyperekplexia or congenital stiff-person syndrome. Multiple
            transcript variants encoding different isoforms have been found.
            [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site at the 5' end of the last exon compared to variant 1.
            The resulting isoform (2) has the same N- and C-termini but is
            shorter compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK312702.1, BC074980.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2142670 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274576.9/ ENSP00000274576.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.1"
     Protein         1..449
                     /product="glycine receptor subunit alpha-1 isoform 2
                     precursor"
                     /note="glycine receptor subunit alpha-1; glycine receptor
                     48 kDa subunit; glycine receptor strychnine-binding
                     subunit"
                     /calculated_mol_wt=48409
     sig_peptide     1..28
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3302
     Region          7..438
                     /region_name="LIC"
                     /note="Cation transporter family protein; TIGR00860"
                     /db_xref="CDD:273305"
     Site            66
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from
                     UniProtKB/Swiss-Prot (P23415.2)"
     Site            251..272
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P23415.2)"
     Site            278..298
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P23415.2)"
     Site            289
                     /site_type="other"
                     /note="Important for obstruction of the ion pore in the
                     closed conformation.
                     /evidence=ECO:0000269|PubMed:25730860; propagated from
                     UniProtKB/Swiss-Prot (P23415.2)"
     Site            310..330
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P23415.2)"
     Region          383..402
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P23415.2)"
     Site            418..438
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P23415.2)"
     CDS             1..449
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /coded_by="NM_000171.4:303..1652"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS4320.1"
                     /db_xref="GeneID:2741"
                     /db_xref="HGNC:HGNC:4326"
                     /db_xref="MIM:138491"
ORIGIN      
        1 mysfntlrly lwetivffsl aaskeaeaar sapkpmspsd fldklmgrts gydarirpnf
       61 kgppvnvscn ifinsfgsia ettmdyrvni flrqqwndpr layneypdds ldldpsmlds
      121 iwkpdlffan ekgahfheit tdnkllrisr ngnvlysiri tltlacpmdl knfpmdvqtc
      181 imqlesfgyt mndlifewqe qgavqvadgl tlpqfilkee kdlryctkhy ntgkftciea
      241 rfhlerqmgy yliqmyipsl livilswisf winmdaapar vglgittvlt mttqssgsra
      301 slpkvsyvka idiwmavcll fvfsalleya avnfvsrqhk ellrfrrkrr hhkedeageg
      361 rfnfsaygmg paclqakdgi svkgannsnt tnpppapsks peemrklfiq rakkidkisr
      421 igfpmaflif nmfywiiyki vrredvhnq
//
LOCUS       NP_116759                522 aa            linear   PRI 16-MAR-2023
DEFINITION  caspase-10 isoform 1 preproprotein [Homo sapiens].
ACCESSION   NP_116759
VERSION     NP_116759.2
DBSOURCE    REFSEQ: accession NM_032977.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 522)
  AUTHORS   Cho M, Dho SH, Shin S, Lee Y, Kim Y, Lee J, Yu SJ, Park SH, Lee KA
            and Kim LK.
  TITLE     Caspase-10 affects the pathogenesis of primary biliary cholangitis
            by regulating inflammatory cell death
  JOURNAL   J Autoimmun 133, 102940 (2022)
   PUBMED   36323068
  REMARK    GeneRIF: Caspase-10 affects the pathogenesis of primary biliary
            cholangitis by regulating inflammatory cell death.
REFERENCE   2  (residues 1 to 522)
  AUTHORS   Sargazi S, Abghari AZ, Sarani H, Sheervalilou R, Mirinejad S,
            Saravani R and Eskandari E.
  TITLE     Relationship Between CASP9 and CASP10 Gene Polymorphisms and Cancer
            Susceptibility: Evidence from an Updated Meta-analysis
  JOURNAL   Appl Biochem Biotechnol 193 (12), 4172-4196 (2021)
   PUBMED   34463927
  REMARK    GeneRIF: Relationship Between CASP9 and CASP10 Gene Polymorphisms
            and Cancer Susceptibility: Evidence from an Updated Meta-analysis.
            Erratum:[Appl Biochem Biotechnol. 2021 Sep 16;:. PMID: 34529231]
REFERENCE   3  (residues 1 to 522)
  AUTHORS   Matas Perez E, Valdivieso Shephard JL, Bravo Garcia-Morato M,
            Robles Marhuenda A, Martinez-Ojinaga Nodal E, Prieto Bozano G,
            Gonzalez Casado I, Salamanca Fresno L, Mendez Echevarria A, Del
            Rosal Rabes T, Allende Martinez L, Lopez-Granados E and Rodriguez
            Pena R.
  TITLE     Variants in CASP10, a diagnostic challenge: Single center
            experience and review of the literature
  JOURNAL   Clin Immunol 230, 108812 (2021)
   PUBMED   34329798
  REMARK    GeneRIF: Variants in CASP10, a diagnostic challenge: Single center
            experience and review of the literature.
            Review article
REFERENCE   4  (residues 1 to 522)
  AUTHORS   Yu FR, Xia YW, Wang SB and Xiao LH.
  TITLE     Long noncoding RNA PVT1 facilitates high glucose-induced
            cardiomyocyte death through the miR-23a-3p/CASP10 axis
  JOURNAL   Cell Biol Int 45 (1), 154-163 (2021)
   PUBMED   33049089
  REMARK    GeneRIF: Long noncoding RNA PVT1 facilitates high glucose-induced
            cardiomyocyte death through the miR-23a-3p/CASP10 axis.
            Erratum:[Cell Biol Int. 2021 Jun;45(6):1349. PMID: 33998141]
REFERENCE   5  (residues 1 to 522)
  AUTHORS   Ng PW, Porter AG and Janicke RU.
  TITLE     Molecular cloning and characterization of two novel pro-apoptotic
            isoforms of caspase-10
  JOURNAL   J Biol Chem 274 (15), 10301-10308 (1999)
   PUBMED   10187817
REFERENCE   6  (residues 1 to 522)
  AUTHORS   Fernandes-Alnemri T, Takahashi A, Armstrong R, Krebs J, Fritz L,
            Tomaselli KJ, Wang L, Yu Z, Croce CM, Salveson G et al.
  TITLE     Mch3, a novel human apoptotic cysteine protease highly related to
            CPP32
  JOURNAL   Cancer Res 55 (24), 6045-6052 (1995)
   PUBMED   8521391
REFERENCE   7  (residues 1 to 522)
  AUTHORS   Bleesing,J.J.H., Nagaraj,C.B. and Zhang,K.
  TITLE     Autoimmune Lymphoproliferative Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301287
REFERENCE   8  (residues 1 to 522)
  AUTHORS   DuBridge,R.B., Tang,P., Hsia,H.C., Leong,P.M., Miller,J.H. and
            Calos,M.P.
  TITLE     Analysis of mutation in human cells by using an Epstein-Barr virus
            shuttle system
  JOURNAL   Mol Cell Biol 7 (1), 379-387 (1987)
   PUBMED   3031469
REFERENCE   9  (residues 1 to 522)
  AUTHORS   Clements,G.B., Klein,G. and Povey,S.
  TITLE     Production by EBV infection of an EBNA-positive subline from an
            EBNA-negative human lymphoma cell line without detectable EBV DNA
  JOURNAL   Int J Cancer 16 (1), 125-133 (1975)
   PUBMED   170210
REFERENCE   10 (residues 1 to 522)
  AUTHORS   Baumann,K., de Rouffignac,C., Roinel,N., Rumrich,G. and
            Ullrich,K.J.
  TITLE     Renal phosphate transport: inhomogeneity of local proximal
            transport rates and sodium dependence
  JOURNAL   Pflugers Arch 356 (4), 287-298 (1975)
   PUBMED   1171445
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA456072.1, BC042844.1,
            AC007283.3 and U60519.1.
            On May 7, 2004 this sequence version replaced NP_116759.1.
            
            Summary: This gene encodes a protein which is a member of the
            cysteine-aspartic acid protease (caspase) family. Sequential
            activation of caspases plays a central role in the execution-phase
            of cell apoptosis. Caspases exist as inactive proenzymes which
            undergo proteolytic processing at conserved aspartic residues to
            produce two subunits, large and small, that dimerize to form the
            active enzyme. This protein cleaves and activates caspases 3 and 7,
            and the protein itself is processed by caspase 8. Mutations in this
            gene are associated with type IIA autoimmune lymphoproliferative
            syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively
            spliced transcript variants encoding different isoforms have been
            described for this gene. [provided by RefSeq, Apr 2011].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1, also known as caspase-10/d).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3335267.1,
                                           SRR18074969.102996.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000286186.11/ ENSP00000286186.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..522
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     Protein         1..522
                     /product="caspase-10 isoform 1 preproprotein"
                     /EC_number="3.4.22.63"
                     /note="caspase 10, apoptosis-related cysteine protease;
                     FADD-like ICE2; apoptotic protease MCH-4; ICE-like
                     apoptotic protease 4; interleukin-1B-converting enzyme 2;
                     CASP-10; FAS-associated death domain protein
                     interleukin-1B-converting enzyme 2; caspase 10
                     apoptosis-related cysteine peptidase"
                     /calculated_mol_wt=58863
     Region          18..99
                     /region_name="DD"
                     /note="Death Domain Superfamily of protein-protein
                     interaction domains; cl14633"
                     /db_xref="CDD:449339"
     Region          112..190
                     /region_name="DED_Caspase_10_r2"
                     /note="Death Effector Domain, repeat 2, of Caspase-10;
                     cd08814"
                     /db_xref="CDD:260074"
     Site            order(113,116..117,119..120,124,150,154)
                     /site_type="other"
                     /note="putative DED1/DED2 interface [polypeptide binding]"
                     /db_xref="CDD:260074"
     mat_peptide     220..415
                     /product="caspase-10 isoform 1 large subunit"
                     /calculated_mol_wt=21807
     Region          231..269
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92851.3)"
     Region          276..514
                     /region_name="CASc"
                     /note="Caspase, interleukin-1 beta converting enzyme (ICE)
                     homologues; smart00115"
                     /db_xref="CDD:214521"
     Site            order(300,359,399,406,447..452,456..457)
                     /site_type="other"
                     /note="substrate pocket [chemical binding]"
                     /db_xref="CDD:237997"
     Site            order(358,401)
                     /site_type="active"
                     /db_xref="CDD:237997"
     Site            order(407,432..433,440,443,446,469,478,484,498,503..504,
                     506,509..510)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:237997"
     Site            order(408,431)
                     /site_type="active"
                     /note="proteolytic cleavage site [active]"
                     /db_xref="CDD:237997"
     mat_peptide     416..522
                     /product="caspase-10 isoform 1 small subunit"
                     /calculated_mol_wt=11921
     CDS             1..522
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /coded_by="NM_032977.4:176..1744"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS2340.1"
                     /db_xref="GeneID:843"
                     /db_xref="HGNC:HGNC:1500"
                     /db_xref="MIM:601762"
ORIGIN      
        1 mksqgqhwys ssdknckvsf reklliidsn lgvqdvenlk flciglvpnk kleksssasd
       61 vfehllaedl lseedpffla ellyiirqkk llqhlnctke everllptrq rvslfrnlly
      121 elsegidsen lkdmifllkd slpktemtsl sflaflekqg kidednltcl edlcktvvpk
      181 llrniekykr ekaiqivtpp vdkeaesyqg eeelvsqtdv ktflealpqe swqnkhagsn
      241 gnratngaps lvsrgmqgas antlnsetst kraavyrmnr nhrglcvivn nhsftslkdr
      301 qgthkdaeil shvfqwlgft vhihnnvtkv ememvlqkqk cnpahadgdc fvfcilthgr
      361 fgavyssdea lipireimsh ftalqcprla ekpklffiqa cqgeeiqpsv sieadalnpe
      421 qaptslqdsi paeadfllgl atvpgyvsfr hveegswyiq slcnhlkklv prhedilsil
      481 tavnddvsrr vdkqgtkkqm pqpaftlrkk lvfpvpldal sl
//
LOCUS       NP_001361244             567 aa            linear   PRI 18-MAR-2023
DEFINITION  syntaxin-binding protein 1 isoform h [Homo sapiens].
ACCESSION   NP_001361244
VERSION     NP_001361244.1
DBSOURCE    REFSEQ: accession NM_001374315.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 567)
  AUTHORS   Kessi M, Chen B, Shan LD, Wang Y, Yang L, Yin F, He F, Peng J and
            Wang G.
  TITLE     Genotype-phenotype correlations of STXBP1 pathogenic variants and
            the treatment choices for STXBP1-related disorders in China
  JOURNAL   BMC Med Genomics 16 (1), 46 (2023)
   PUBMED   36882827
  REMARK    GeneRIF: Genotype-phenotype correlations of STXBP1 pathogenic
            variants and the treatment choices for STXBP1-related disorders in
            China.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 567)
  AUTHORS   McLeod F, Dimtsi A, Marshall AC, Lewis-Smith D, Thomas R, Clowry GJ
            and Trevelyan AJ.
  TITLE     Altered synaptic connectivity in an in vitro human model of STXBP1
            encephalopathy
  JOURNAL   Brain 146 (3), 850-857 (2023)
   PUBMED   36315647
  REMARK    GeneRIF: Altered synaptic connectivity in an in vitro human model
            of STXBP1 encephalopathy.
REFERENCE   3  (residues 1 to 567)
  AUTHORS   Feringa FM, van Berkel AA, Nair A and Verhage M.
  TITLE     An Atypical, Staged Cell Death Pathway Induced by Depletion of
            SNARE-Proteins MUNC18-1 or Syntaxin-1
  JOURNAL   J Neurosci 43 (3), 347-358 (2023)
   PUBMED   36517239
  REMARK    GeneRIF: An Atypical, Staged Cell Death Pathway Induced by
            Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1.
REFERENCE   4  (residues 1 to 567)
  AUTHORS   Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo
            G, Chiesa V, Christensen J, Dalla Bernardina B, Ellis CA, Furia F,
            Gardiner F, Giron C, Guerrini R, Klein KM, Korff C, Krijtova H,
            Leffler M, Lerche H, Lesca G, Lewis-Smith D, Marini C, Marjanovic
            D, Mazzola L, McKeown Ruggiero S, Mochel F, Ramond F, Reif PS,
            Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber
            Y, Palmer E, Helbig I, Scheffer IE, Striano P, Moller RS, Gardella
            E and Weckhuysen S.
  TITLE     Natural History Study of STXBP1-Developmental and Epileptic
            Encephalopathy Into Adulthood
  JOURNAL   Neurology 99 (3), e221-e233 (2022)
   PUBMED   35851549
  REMARK    GeneRIF: Natural History Study of STXBP1-Developmental and
            Epileptic Encephalopathy Into Adulthood.
            Erratum:[Neurology. 2023 Jan 24;:. PMID: 36693729]
REFERENCE   5  (residues 1 to 567)
  AUTHORS   Tellam JT, Macaulay SL, McIntosh S, Hewish DR, Ward CW and James
            DE.
  TITLE     Characterization of Munc-18c and syntaxin-4 in 3T3-L1 adipocytes.
            Putative role in insulin-dependent movement of GLUT-4
  JOURNAL   J Biol Chem 272 (10), 6179-6186 (1997)
   PUBMED   9045631
REFERENCE   6  (residues 1 to 567)
  AUTHORS   Gengyo-Ando K, Kitayama H, Mukaida M and Ikawa Y.
  TITLE     A murine neural-specific homolog corrects cholinergic defects in
            Caenorhabditis elegans unc-18 mutants
  JOURNAL   J Neurosci 16 (21), 6695-6702 (1996)
   PUBMED   8824310
  REMARK    GeneRIF: Describes cloning of mouse and human homologs of C.
            elegans UNC-18.
REFERENCE   7  (residues 1 to 567)
  AUTHORS   Fujita Y, Sasaki T, Fukui K, Kotani H, Kimura T, Hata Y, Sudhof TC,
            Scheller RH and Takai Y.
  TITLE     Phosphorylation of Munc-18/n-Sec1/rbSec1 by protein kinase C: its
            implication in regulating the interaction of Munc-18/n-Sec1/rbSec1
            with syntaxin
  JOURNAL   J Biol Chem 271 (13), 7265-7268 (1996)
   PUBMED   8631738
REFERENCE   8  (residues 1 to 567)
  AUTHORS   Garcia EP, McPherson PS, Chilcote TJ, Takei K and De Camilli P.
  TITLE     rbSec1A and B colocalize with syntaxin 1 and SNAP-25 throughout the
            axon, but are not in a stable complex with syntaxin
  JOURNAL   J Cell Biol 129 (1), 105-120 (1995)
   PUBMED   7698978
REFERENCE   9  (residues 1 to 567)
  AUTHORS   Pevsner J, Hsu SC and Scheller RH.
  TITLE     n-Sec1: a neural-specific syntaxin-binding protein
  JOURNAL   Proc Natl Acad Sci U S A 91 (4), 1445-1449 (1994)
   PUBMED   8108429
REFERENCE   10 (residues 1 to 567)
  AUTHORS   Khaikin,Y. and Mercimek-Andrews,S.
  TITLE     STXBP1 Encephalopathy with Epilepsy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27905812
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162426.20.
            
            Summary: This gene encodes a syntaxin-binding protein. The encoded
            protein appears to play a role in release of neurotransmitters via
            regulation of syntaxin, a transmembrane attachment protein
            receptor. Mutations in this gene have been associated with
            infantile epileptic encephalopathy-4. Alternatively spliced
            transcript variants have been described. [provided by RefSeq, Feb
            2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.126298.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665, SAMEA2163459
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..567
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     Protein         1..567
                     /product="syntaxin-binding protein 1 isoform h"
                     /note="neuronal SEC1; protein unc-18 homolog 1; protein
                     unc-18 homolog A"
                     /calculated_mol_wt=64487
     Region          29..543
                     /region_name="Sec1"
                     /note="Sec1 family; pfam00995"
                     /db_xref="CDD:425980"
     CDS             1..567
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /coded_by="NM_001374315.2:128..1831"
                     /note="isoform h is encoded by transcript variant 12"
                     /db_xref="GeneID:6812"
                     /db_xref="HGNC:HGNC:11444"
                     /db_xref="MIM:602926"
ORIGIN      
        1 mapiglkavv gekimhdvik kvkkkgewkv lvvdqlsmrm lsscckmtdi mtegitived
       61 inkrreplps leavylitps eksvhslisd fkdpptakyr aahvfftdsc pdalfnelvk
      121 sraakviktl teiniaflpy esqvysldsa dsfqsfysph kaqmknpile rlaeqiatlc
      181 atlkeypavr yrgeykdnal laqliqdkld aykaddptmg egpdkarsql lildrgfdps
      241 spvlheltfq amsydllpie ndvykevtrs lkdfssskrm ntgekttmrd lsqmlkkmpq
      301 yqkelskyst hlhlaedcmk hyqgtvdklc rveqdlamgt daegekikdp mraivpilld
      361 anvstydkir iillyiflkn giteenlnkl iqhaqipped seiitnmahl gvpivtdstl
      421 rrrskperke riseqtyqls rwtpiikdim edtiedkldt khypyistrs sasfsttavs
      481 aryghwhknk apgeyrsgpr liifilggvs lnemrcayev tqangkwevl igsthiltpt
      541 kflmdlrhpd fressrvsfe dqaptme
//
LOCUS       NP_001366039             679 aa            linear   PRI 19-MAR-2023
DEFINITION  sodium/hydrogen exchanger 6 isoform 5 [Homo sapiens].
ACCESSION   NP_001366039
VERSION     NP_001366039.1
DBSOURCE    REFSEQ: accession NM_001379110.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 679)
  AUTHORS   Lee U, Choi C, Ryu SH, Park D, Lee SE, Kim K, Kim Y and Chang S.
  TITLE     SCAMP5 plays a critical role in axonal trafficking and synaptic
            localization of NHE6 to adjust quantal size at glutamatergic
            synapses
  JOURNAL   Proc Natl Acad Sci U S A 118 (2) (2021)
   PUBMED   33372133
  REMARK    GeneRIF: SCAMP5 plays a critical role in axonal trafficking and
            synaptic localization of NHE6 to adjust quantal size at
            glutamatergic synapses.
REFERENCE   2  (residues 1 to 679)
  AUTHORS   Ilie A, Boucher A, Park J, Berghuis AM, McKinney RA and Orlowski J.
  TITLE     Assorted dysfunctions of endosomal alkali cation/proton exchanger
            SLC9A6 variants linked to Christianson syndrome
  JOURNAL   J Biol Chem 295 (20), 7075-7095 (2020)
   PUBMED   32277048
  REMARK    GeneRIF: Assorted dysfunctions of endosomal alkali cation/proton
            exchanger SLC9A6 variants linked to Christianson syndrome.
REFERENCE   3  (residues 1 to 679)
  AUTHORS   Ilie A, Gao AYL, Boucher A, Park J, Berghuis AM, Hoffer MJV,
            Hilhorst-Hofstee Y, McKinney RA and Orlowski J.
  TITLE     A potential gain-of-function variant of SLC9A6 leads to endosomal
            alkalinization and neuronal atrophy associated with Christianson
            Syndrome
  JOURNAL   Neurobiol Dis 121, 187-204 (2019)
   PUBMED   30296617
REFERENCE   4  (residues 1 to 679)
  AUTHORS   Lucien F, Pelletier PP, Lavoie RR, Lacroix JM, Roy S, Parent JL,
            Arsenault D, Harper K and Dubois CM.
  TITLE     Hypoxia-induced mobilization of NHE6 to the plasma membrane
            triggers endosome hyperacidification and chemoresistance
  JOURNAL   Nat Commun 8, 15884 (2017)
   PUBMED   28635961
  REMARK    GeneRIF: NHE6 role in the neoplasm chemoresistance.NHE6 transport
            from endosomes to the plasma membrane triggers endosome
            hyperacidification.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 679)
  AUTHORS   Ohgaki R, Matsushita M, Kanazawa H, Ogihara S, Hoekstra D and van
            Ijzendoorn SC.
  TITLE     The Na+/H+ exchanger NHE6 in the endosomal recycling system is
            involved in the development of apical bile canalicular surface
            domains in HepG2 cells
  JOURNAL   Mol Biol Cell 21 (7), 1293-1304 (2010)
   PUBMED   20130086
  REMARK    GeneRIF: NHE6 in the endosomal recycling system is involved in the
            development of apical bile canalicular surface domains in HepG2
            cells
REFERENCE   6  (residues 1 to 679)
  AUTHORS   Numata M and Orlowski J.
  TITLE     Molecular cloning and characterization of a novel (Na+,K+)/H+
            exchanger localized to the trans-Golgi network
  JOURNAL   J Biol Chem 276 (20), 17387-17394 (2001)
   PUBMED   11279194
REFERENCE   7  (residues 1 to 679)
  AUTHORS   Christianson AL, Stevenson RE, van der Meyden CH, Pelser J, Theron
            FW, van Rensburg PL, Chandler M and Schwartz CE.
  TITLE     X linked severe mental retardation, craniofacial dysmorphology,
            epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South
            African kindred is localised to Xq24-q27
  JOURNAL   J Med Genet 36 (10), 759-766 (1999)
   PUBMED   10528855
REFERENCE   8  (residues 1 to 679)
  AUTHORS   Numata M, Petrecca K, Lake N and Orlowski J.
  TITLE     Identification of a mitochondrial Na+/H+ exchanger
  JOURNAL   J Biol Chem 273 (12), 6951-6959 (1998)
   PUBMED   9507001
REFERENCE   9  (residues 1 to 679)
  AUTHORS   Morrow,E.M. and Pescosolido,M.F.
  TITLE     Christianson Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29334451
REFERENCE   10 (residues 1 to 679)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL732579.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a sodium-hydrogen exchanger that is
            amember of the solute carrier family 9. The encoded protein
            localizes to early and recycling endosomes and may be involved in
            regulating endosomal pH and volume. Defects in this gene are
            associated with X-linked syndromic cognitive disability,
            Christianson type. Alternate splicing results in multiple
            transcript variants.[provided by RefSeq, Apr 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMN03465403
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000630721.3/ ENSP00000487486.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..679
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     Protein         1..679
                     /product="sodium/hydrogen exchanger 6 isoform 5"
                     /note="solute carrier family 9, subfamily A (NHE6, cation
                     proton antiporter 6), member 6; Na(+)/H(+) exchanger 6;
                     solute carrier family 9 (sodium/hydrogen exchanger),
                     member 6"
                     /calculated_mol_wt=75709
     Region          41..>487
                     /region_name="b_cpa1"
                     /note="sodium/hydrogen exchanger 3; TIGR00840"
                     /db_xref="CDD:273294"
     CDS             1..679
                     /gene="SLC9A6"
                     /gene_synonym="MRSA; MRXSCH; NHE6"
                     /coded_by="NM_001379110.1:100..2139"
                     /note="isoform 5 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS94676.1"
                     /db_xref="GeneID:10479"
                     /db_xref="HGNC:HGNC:11079"
                     /db_xref="MIM:300231"
ORIGIN      
        1 mdeeivsekq aeeshrqdsa nllifilllt ltiltiwlfk hrrarflhet glamiygllv
       61 glvlrygihv psdvnnvtls cevqsspttl lvnvsgkfye ymlkgeissh elnnvqdnem
      121 lrkvtfdpev ffnillppii fyagyslkrr hffrnlgsil ayaflgtais cfvigsimyg
      181 cvtlmkvtgq lagdfyftdc llfgaivsat dpvtvlaifh elqvdvelya llfgesvlnd
      241 avaivlsssi vayqpagdns htfdvtamfk sigiflgifs gsfamgaatg vvtalvtkft
      301 klrefqllet glfflmswst fllaeawgft gvvavlfcgi tqahytynnl stesqhrtkq
      361 lfellnflae nfifsymglt lftfqnhvfn ptfvvgafva iflgraaniy plslllnlgr
      421 rskigsnfqh mmmfaglrga mafalairdt atyarqmmfs ttllivfftv wvfgggttam
      481 lsclhiryca rlwgyrdelr hglypqgths lfgetdrvgv dsdqehlgvp enerrttkae
      541 sawlfrmwyn fdhnylkpll thsgpplttt lpaccgpiar cltspqayen qeqlkdddsd
      601 lilndgdisl tygdstvnte patssaprrf mgnssedald relafgdhel virgtrlvlp
      661 mddsepplnl ldntrhgpa
//
LOCUS       NP_001337475             798 aa            linear   PRI 19-MAR-2023
DEFINITION  sorting nexin-14 isoform r [Homo sapiens].
ACCESSION   NP_001337475
VERSION     NP_001337475.1
DBSOURCE    REFSEQ: accession NM_001350546.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 798)
  AUTHORS   Datta S, Liu Y, Hariri H, Bowerman J and Henne WM.
  TITLE     Cerebellar ataxia disease-associated Snx14 promotes lipid droplet
            growth at ER-droplet contacts
  JOURNAL   J Cell Biol 218 (4), 1335-1351 (2019)
   PUBMED   30765438
  REMARK    GeneRIF: Snx14, an endoplasmic reticulum-resident protein
            associated with the cerebellar ataxia SCAR20, localizes to ER-LD
            contacts following fatty acid treatment, where it promotes lipid
            droplet maturation.
REFERENCE   2  (residues 1 to 798)
  AUTHORS   Bryant D, Liu Y, Datta S, Hariri H, Seda M, Anderson G, Peskett E,
            Demetriou C, Sousa S, Jenkins D, Clayton P, Bitner-Glindzicz M,
            Moore GE, Henne WM and Stanier P.
  TITLE     SNX14 mutations affect endoplasmic reticulum-associated neutral
            lipid metabolism in autosomal recessive spinocerebellar ataxia 20
  JOURNAL   Hum Mol Genet 27 (11), 1927-1940 (2018)
   PUBMED   29635513
  REMARK    GeneRIF: We therefore identify an important role for SNX14 in
            neutral lipid homeostasis between the endoplasmic reticulum ,
            lysosomes and lipid droplets that may provide an early intervention
            target to alleviate the clinical symptoms of autosomal recessive
            cerebellar ataxia 20 (SCAR20).
REFERENCE   3  (residues 1 to 798)
  AUTHORS   Shukla A, Upadhyai P, Shah J, Neethukrishna K, Bielas S and Girisha
            KM.
  TITLE     Autosomal recessive spinocerebellar ataxia 20: Report of a new
            patient and review of literature
  JOURNAL   Eur J Med Genet 60 (2), 118-123 (2017)
   PUBMED   27913285
  REMARK    GeneRIF: Here we report on a child with a novel missense mutation
            in the SNX14 gene that appears to be debilitating for protein
            conformation, function and review the previously reported cases
            from 15 families
REFERENCE   4  (residues 1 to 798)
  AUTHORS   Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO,
            Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL,
            Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman
            MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagiroglu MS,
            Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S,
            Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L,
            Temtamy S, Muller U, Desguerre I, Casanova JL, Dursun A, Gunel M,
            Gabriel SB, de Lonlay P and Gleeson JG.
  TITLE     Biallelic mutations in SNX14 cause a syndromic form of cerebellar
            atrophy and lysosome-autophagosome dysfunction
  JOURNAL   Nat Genet 47 (5), 528-534 (2015)
   PUBMED   25848753
  REMARK    GeneRIF: A unique ataxia syndrome due to biallelic SNX14 mutations
            leading to lysosome-autophagosome dysfunction.
REFERENCE   5  (residues 1 to 798)
  AUTHORS   Thomas AC, Williams H, Seto-Salvia N, Bacchelli C, Jenkins D,
            O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C,
            Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ,
            Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P,
            Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H,
            Hurst J, Scott R, Bitner-Glindzicz M, Moore GE, Sousa SB and
            Stanier P.
  TITLE     Mutations in SNX14 cause a distinctive autosomal-recessive
            cerebellar ataxia and intellectual disability syndrome
  JOURNAL   Am J Hum Genet 95 (5), 611-621 (2014)
   PUBMED   25439728
  REMARK    GeneRIF: Mutations in SNX14 cause a distinctive autosomal-recessive
            cerebellar ataxia and intellectual disability syndrome.
            Erratum:[Am J Hum Genet. 2015 Jun 4;96(6):1008-9]
REFERENCE   6  (residues 1 to 798)
  AUTHORS   Worby CA and Dixon JE.
  TITLE     Sorting out the cellular functions of sorting nexins
  JOURNAL   Nat Rev Mol Cell Biol 3 (12), 919-931 (2002)
   PUBMED   12461558
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol. 2003 Feb;4(2):156.]
REFERENCE   7  (residues 1 to 798)
  AUTHORS   Xu Y, Seet LF, Hanson B and Hong W.
  TITLE     The Phox homology (PX) domain, a new player in phosphoinositide
            signalling
  JOURNAL   Biochem J 360 (Pt 3), 513-530 (2001)
   PUBMED   11736640
  REMARK    Review article
REFERENCE   8  (residues 1 to 798)
  AUTHORS   Teasdale RD, Loci D, Houghton F, Karlsson L and Gleeson PA.
  TITLE     A large family of endosome-localized proteins related to sorting
            nexin 1
  JOURNAL   Biochem J 358 (Pt 1), 7-16 (2001)
   PUBMED   11485546
REFERENCE   9  (residues 1 to 798)
  AUTHORS   Carroll P, Renoncourt Y, Gayet O, De Bovis B and Alonso S.
  TITLE     Sorting nexin-14, a gene expressed in motoneurons trapped by an in
            vitro preselection method
  JOURNAL   Dev Dyn 221 (4), 431-442 (2001)
   PUBMED   11500980
REFERENCE   10 (residues 1 to 798)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136082.22 and AL589666.5.
            
            Summary: This gene encodes a member of the sorting nexin family.
            Members of this family have a phox (PX) phosphoinositide binding
            domain and are involved in intracellular trafficking. The encoded
            protein also contains a regulator of G protein signaling (RGS)
            domain. Regulator of G protein signaling family members are
            regulatory molecules that act as GTPase activating proteins for G
            alpha subunits of heterotrimeric G proteins. Alternate splicing
            results in transcript variants encoding distinct isoforms.
            [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (19), as well as variant 18,
            encodes isoform r.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.41788.1,
                                           SRR1803612.104740.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..798
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.3"
     Protein         1..798
                     /product="sorting nexin-14 isoform r"
                     /calculated_mol_wt=92862
     Region          6..151
                     /region_name="PXA"
                     /note="PXA domain; pfam02194"
                     /db_xref="CDD:426650"
     Region          192..318
                     /region_name="RGS_SNX14"
                     /note="Regulator of G protein signaling (RGS) domain found
                     in the Sorting Nexin14 (SNX14) protein; cd08722"
                     /db_xref="CDD:188677"
     Region          416..538
                     /region_name="PX_SNX14"
                     /note="The phosphoinositide binding Phox Homology domain
                     of Sorting Nexin 14; cd06877"
                     /db_xref="CDD:132787"
     Site            order(468..470,494..495,508)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:132787"
     Region          659..763
                     /region_name="Nexin_C"
                     /note="Sorting nexin C terminal; pfam08628"
                     /db_xref="CDD:430115"
     CDS             1..798
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /coded_by="NM_001350546.2:286..2682"
                     /note="isoform r is encoded by transcript variant 19"
                     /db_xref="GeneID:57231"
                     /db_xref="HGNC:HGNC:14977"
                     /db_xref="MIM:616105"
ORIGIN      
        1 mhlsqrdvtd desfvdelri tlrffasvli rrihkvdips iitkkllkaa mkhievivka
       61 rqkvkntefl qqaaleeygp elhvalrsrr delhylrklt ellfpyilpp katdcrsltl
      121 lireilsgsv flpsldflad pdtvnhllii fiddsppeka tepasplvpf lqkfaeprnk
      181 kpsvlklelk qireqqdllf rfmnflkqeg avhvlqfclt veefndrilr pelsndemls
      241 lheelqkiyk tycldesidk irfdpfivee iqriaegpyi dvvklqtmrc lfeayehvls
      301 llenvftpmf chsdeyfrql lrgaesptrn sklnrgslsl ddfrntqkrg esfgisrigs
      361 kikgvfkstt megamlpnyg vaegeddfie egivvmedds pveavstpnt prnlaawkis
      421 ipyvdffedp sserkekker ipvfcidver ndrravghep ehwsvyrryl efyvlesklt
      481 efhgafpdaq lpskriigpk nyeflkskre efqeylqkll qhpelsnsql ladflspngg
      541 etqfldkilp dvnlgkiiks vpgklmkekg qhlepfimnf inscespkpk psrpeltils
      601 ptsennkklf ndlfknnanr aenterkqnq nyfmevmtve gvydylmyvg rvvfqvpdwl
      661 hhllmgtril fkntlemytd yylqckleql fqehrlvsli tllrdaifce nteprslqdk
      721 qkgakqtfee mmnyipdllv kcigeetkye sirllfdglq qpvlnkqlty vlldiviqel
      781 fpelnkvqke vtsvtswm
//
LOCUS       XP_024304139             804 aa            linear   PRI 20-MAR-2023
DEFINITION  DDB1- and CUL4-associated factor 6 isoform X1 [Homo sapiens].
ACCESSION   XP_024304139
VERSION     XP_024304139.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024448371.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..804
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..804
                     /product="DDB1- and CUL4-associated factor 6 isoform X1"
                     /calculated_mol_wt=89642
     Region          <5..>145
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          48..99
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <247..596
                     /region_name="PRK14949"
                     /note="DNA polymerase III subunits gamma and tau;
                     Provisional"
                     /db_xref="CDD:237863"
     Region          <674..733
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     CDS             1..804
                     /gene="DCAF6"
                     /gene_synonym="1200006M05Rik; ARCAP; IQWD1; MSTP055; NRIP;
                     PC326"
                     /coded_by="XM_024448371.2:519..2933"
                     /db_xref="GeneID:55827"
                     /db_xref="HGNC:HGNC:30002"
                     /db_xref="MIM:610494"
ORIGIN      
        1 mtvpndpytf lscgedgtvr wfdtriktsc tkedckddil incrraatsv aicppipyyl
       61 avgcsdssvr iydrrmlgtr atgnyagrgt tgmvarfips hlnnkscrvt slcysedgqe
      121 ilvsyssdyi ylfdpkddta relktpsaee rreelrqppv krlrlrgdws dtgprarpes
      181 ererdgeqsp nvslmqrmsd mlsrwfeeas evaqsnrgrg rsrprggtsq sdistlptvp
      241 sspdlevset amevdtpaeq flqpstsstm saqahstssp tesphstpll sspdseqrqs
      301 veasghhthh qseflrgpei allrkrlqql rlkkaeqqrq qelaahtqqq pstsdqsshe
      361 gssqdphasd spssvvnkql gsmsldeqqd nnneklspkp gtgepvlslh ystegtttst
      421 iklnftdews siasssrgig shcksegqee sfvpqssvqp pegdsetkap eessedvtky
      481 qegvsaenpv enhinitqsd kftakpldsn sgerndlnld rscgvpeesa ssekakepet
      541 sdqtstesat nenntnpepq fqteatgpsa heetstrdsa lqdtddsddd pvlipgaryr
      601 agpgdrfnir gttigdrimr rsavariqef frrrkerkem eeldtlnirr plvkmvykgh
      661 rnsrtmikea nfwganfvms gsdcghifiw drhtaehlml leadnhvvnc lqphpfdpil
      721 assgidydik iwspleesri fnrkladevi trnelmleet rntitvpasf mlrmlaslnh
      781 iradrlegdr segsgqenen edee
//
LOCUS       XP_011508248             229 aa            linear   PRI 20-MAR-2023
DEFINITION  troponin T, cardiac muscle isoform X7 [Homo sapiens].
ACCESSION   XP_011508248
VERSION     XP_011508248.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011509946.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..229
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..229
                     /product="troponin T, cardiac muscle isoform X7"
                     /calculated_mol_wt=27726
     Region          34..172
                     /region_name="Troponin"
                     /note="pfam00992"
                     /db_xref="CDD:425977"
     CDS             1..229
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /coded_by="XM_011509946.2:286..975"
                     /db_xref="GeneID:7139"
                     /db_xref="HGNC:HGNC:11949"
                     /db_xref="MIM:191045"
ORIGIN      
        1 meeskpkprs fmpnlvppki pdgervdfdd ihrkrmekdl nelqalieah fenrkkeeee
       61 lvslkdrier rraeraeqqr irnerekerq nrlaeerarr eeeenrrkae dearkkkals
      121 nmmhfggyiq kqaqterksg krqterekkk kilaerrkvl aidhlnedql rekakelwqs
      181 iynleaekfd lqekfkqqky einvlrnrin dnqkvsktrg kakvtgrwk
//
LOCUS       XP_016871520             441 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C10orf67, mitochondrial isoform X3 [Homo
            sapiens].
ACCESSION   XP_016871520
VERSION     XP_016871520.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017016031.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 12% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..441
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..441
                     /product="uncharacterized protein C10orf67, mitochondrial
                     isoform X3"
                     /calculated_mol_wt=50903
     Region          <1..69
                     /region_name="DUF4709"
                     /note="Domain of unknown function (DUF4709); pfam15821"
                     /db_xref="CDD:434961"
     Region          55..>328
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          348..436
                     /region_name="DUF4724"
                     /note="Domain of unknown function (DUF4724); pfam15852"
                     /db_xref="CDD:406316"
     CDS             1..441
                     /gene="C10orf67"
                     /gene_synonym="C10orf115; LINC01552"
                     /coded_by="XM_017016031.2:230..1555"
                     /db_xref="GeneID:256815"
                     /db_xref="HGNC:HGNC:28716"
ORIGIN      
        1 mmkslqvdfg flkqllqlkf edrlkeesls lftilhdril eiekhyqqne dkmrksfnqq
       61 ladaiavikg myqqffevee envslqdast vktnillrkl kekeevikel keeldqykdf
      121 gfhkmesfak etsspksnle kenleykven erllqiisel eeeiqinlke nsgledelis
      181 mkemaekdhk tiqklmdsrd rlreelhyek slvqdvinkq kedkemrkky gslsvkvars
      241 akgreaslsp wpksppstta lrphsatmsv ssagaqkakm pkkalkedqa vvedkhgles
      301 qiealkanle nekkkverfr keadrlnksw ekrffilrns fhvlknemft rhtlfrqfav
      361 ladtsfnyik vkpllvqsrt tmtaissssh ctssidgkhv dvvsdqaalq lspkgklses
      421 pkeesleeps mrqsspaetv d
//
LOCUS       XP_016872265             256 aa            linear   PRI 20-MAR-2023
DEFINITION  polycomb group RING finger protein 5 isoform X1 [Homo sapiens].
ACCESSION   XP_016872265
VERSION     XP_016872265.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017016776.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..256
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..256
                     /product="polycomb group RING finger protein 5 isoform X1"
                     /calculated_mol_wt=29583
     Region          6..100
                     /region_name="RING-HC_PCGF5"
                     /note="RING finger found in polycomb group RING finger
                     protein 5 (PCGF5) and similar proteins; cd16737"
                     /db_xref="CDD:438395"
     Site            order(7..13,15,21,23..24,26..27,29..30,32..35,39..41,
                     44..45,64,66..67,69..72,74..75,77..78,81..82,84,86,89..90,
                     93..94,97..98)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:438395"
     Region          136..256
                     /region_name="RAWUL_PCGF5"
                     /note="RING finger- and WD40-associated ubiquitin-like
                     (RAWUL) domain found in polycomb group RING finger protein
                     5 (PCGF5) and similar proteins; cd17084"
                     /db_xref="CDD:340604"
     CDS             1..256
                     /gene="PCGF5"
                     /gene_synonym="RNF159"
                     /coded_by="XM_017016776.3:6550..7320"
                     /db_xref="GeneID:84333"
                     /db_xref="HGNC:HGNC:28264"
                     /db_xref="MIM:617407"
ORIGIN      
        1 matqrkhlvk dfnpyitcyi ckgylikptt vteclhtfck tcivqhfeds ndcprcgnqv
       61 hetnplemlr ldntleeiif klvpglreqe leresefwkk nkpqengqdd tskadkpkvd
      121 eegdeneddk dyhrsdpqia icldclrnng qsgdnvvkgl mkkfircstr vtvgtikkfl
      181 slklklpssy eldvlcngei mgkdhtmefi ymtrwrlrge nfrclncsas qvcsqdgply
      241 qsypmvlqyr pridfg
//
LOCUS       XP_047281877             697 aa            linear   PRI 20-MAR-2023
DEFINITION  poly(ADP-ribose) glycohydrolase isoform X2 [Homo sapiens].
ACCESSION   XP_047281877
VERSION     XP_047281877.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425921.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..697
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..697
                     /product="poly(ADP-ribose) glycohydrolase isoform X2"
                     /calculated_mol_wt=79185
     Region          581..>689
                     /region_name="PARG_cat"
                     /note="Poly (ADP-ribose) glycohydrolase (PARG); pfam05028"
                     /db_xref="CDD:428266"
     CDS             1..697
                     /gene="PARG"
                     /gene_synonym="PARG99"
                     /coded_by="XM_047425921.1:303..2396"
                     /db_xref="GeneID:8505"
                     /db_xref="HGNC:HGNC:8605"
                     /db_xref="MIM:603501"
ORIGIN      
        1 mnagpgcepc tkrprwgaat tspaasdars fpsrqrrvld pkdahvqfrv ppsspacvpg
       61 ragqhrgsat slvfkqktit swmdtkgikt aesesldske nnntriesmm ssvqkdnfyq
      121 hnveklenvs qlsldkspte kstqylnqhq taamckwqne gkhteqlles epqtvtlvpe
      181 qfsnanidrs pqnddhsdtd seenrdnqqf lttvklanak qttedeqare akshqkcsks
      241 cdpgedcasc qqdeidvvpe splsdvgsed vgtgpkndnk ltrqesclgn sppfekesep
      301 espmdvdnsk nscqdseade etspgfdeqe dgsssqtank psrfqardad iefrkrystk
      361 ggevrlhfqf eggesrtgmn dlnaklpgni sslnvecrns kqhgkkdski tdhfmrlpka
      421 edrrkeqwet khqrterkip kyvpphlspd kkwlgtpiee mrrmprcgir lpllrpsanh
      481 tvtirvdllr agevpkpfpt hykdlwdnkh vkmpcseqnl ypvedenger tagsrweliq
      541 tallnkftrp qnlkdailky nvayskkwdf talidfwdkv leeaeaqhly qsilpdmvki
      601 alclpnictq pipllkqkmn hsitmsqeqi asllanaffc tfprrnakmk seyssypdin
      661 fnrlfegrss rkpeklktlf cyfrrvteks kflsfll
//
LOCUS       XP_011518222             430 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-coupled monocarboxylate transporter 2 isoform X3 [Homo
            sapiens].
ACCESSION   XP_011518222
VERSION     XP_011518222.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011519920.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..430
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..430
                     /product="sodium-coupled monocarboxylate transporter 2
                     isoform X3"
                     /calculated_mol_wt=46648
     Region          <1..339
                     /region_name="SLC5-6-like_sbd"
                     /note="Solute carrier families 5 and 6-like; solute
                     binding domain; cl00456"
                     /db_xref="CDD:444915"
     CDS             1..430
                     /gene="SLC5A12"
                     /gene_synonym="SMCT2"
                     /coded_by="XM_011519920.3:391..1683"
                     /db_xref="GeneID:159963"
                     /db_xref="HGNC:HGNC:28750"
                     /db_xref="MIM:612455"
ORIGIN      
        1 mvvmivgflt vliqgsthag gfhnvleqst ngsrlhifdf dvdplrrhtf wtitvggtft
       61 wlgiygvnqs tiqrcisckt ekhaklalyf nllglwiilv cavfsglimy shfkdcdpwt
      121 sgiisapdql mpyfvmeifa tmpglpglfv acafsgtlst vassinalat vtfedfvksc
      181 fphlsdklst wiskglcllf gvmctsmava asvmggvvqa slsihgmcgg pmlglfslgi
      241 vfpfvnwkga lgglltgitl sfwvaigafi ypapasktwp lplstdqcik snvtatgppv
      301 lssrpgiadt wysisylyys avgclgciva gviislitgr qrgediqpll irpvcnlfcf
      361 wskkyktlcw cgvqhdsgte qenlengsar kqgaesvlqn glrreslvhv pgydpkdksy
      421 nnmafetthf
//
LOCUS       XP_016872746            1025 aa            linear   PRI 20-MAR-2023
DEFINITION  disks large homolog 2 isoform X4 [Homo sapiens].
ACCESSION   XP_016872746
VERSION     XP_016872746.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017257.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1025
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1025
                     /product="disks large homolog 2 isoform X4"
                     /calculated_mol_wt=114918
     Region          6..64
                     /region_name="L27_1"
                     /note="pfam09058"
                     /db_xref="CDD:430389"
     Region          157..238
                     /region_name="MAGUK_N_PEST"
                     /note="Polyubiquitination (PEST) N-terminal domain of
                     MAGUK; pfam10608"
                     /db_xref="CDD:431391"
     Region          239..323
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(248..251,253,307..308,311..312)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          332..417
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(343..346,348,402..403,406..407)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          419..486
                     /region_name="PDZ_assoc"
                     /note="PDZ-associated domain of NMDA receptors; pfam10600"
                     /db_xref="CDD:431385"
     Region          560..638
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(571..574,576,624..625,628..629)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          675..748
                     /region_name="SH3_DLG2"
                     /note="Src Homology 3 domain of Disks Large homolog 2;
                     cd12032"
                     /db_xref="CDD:212965"
     Site            order(683,705..706)
                     /site_type="other"
                     /note="GuK domain interface [polypeptide binding]"
                     /db_xref="CDD:212965"
     Site            order(686,688,691,700,718..719,738,740..741)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212965"
     Region          834..1012
                     /region_name="Guanylate_kin"
                     /note="Guanylate kinase; pfam00625"
                     /db_xref="CDD:395500"
     CDS             1..1025
                     /gene="DLG2"
                     /gene_synonym="chapsyn-110; PPP1R58; PSD-93; PSD93"
                     /coded_by="XM_017017257.3:1757..4834"
                     /db_xref="GeneID:1740"
                     /db_xref="HGNC:HGNC:2901"
                     /db_xref="MIM:603583"
ORIGIN      
        1 mpvkktdtdr alslleeyck klrkpeeqll knavkkvmgi fksslfqall diqefyevtl
       61 lnsqksceqk ieeanqvlqk wektsllapc hdrlqkssel tdcsgskena scieqnkenq
      121 sfenetdett tqnqgrcpaq ncsveapawm pvhhctyryq dedaphdhsl prlthevrgp
      181 elvhvseknl sqienvhgyv lqshisplka spapiivntd tldtipyvng teieyefeei
      241 tlergnsglg fsiaggtdnp higddpgifi tkiipggaaa edgrlrvndc ilrvnevdvs
      301 evshskavea lkeagsivrl yvrrrrpile tvveiklfkg pkglgfsiag gvgnqhipgd
      361 nsiyvtkiid ggaaqkdgrl qvgdrllmvn nysleevthe eavailknts evvylkvgkp
      421 ttiymtdpyg ppdithsysp pmenhllsgn ngtleyktsl ppispgrysp ipkhmlvddd
      481 ytrppepvys tvnklcdkpa sprhyspvec dksfllsapy shyhlgllpd semtshsqhs
      541 tatrqpsmtl qravslegep rkvvlhkgst glgfnivgge dgegifvsfi laggpadlsg
      601 elqrgdqils vngidlrgas heqaaaalkg agqtvtiiaq yqpedyarfe akihdlreqm
      661 mnhsmssgsg slrtnqkrsl yvramfdydk skdsglpsqg lsfkygdilh vinasddeww
      721 qarrvmlegd seemgvipsk rrverkerar lktvkfnakp gvidskgsfn dkrkksfifs
      781 rkfpfyknke qseqetsdpe qhvssnasds essyrgqedl ilsyepvtrq einytrpvii
      841 lgpmkdrind dlisefpdkf gscvphttrp krdyevdgrd yhfvisreqm ekdiqehkfi
      901 eagqyndnly gtsvqsvrfv aergkhcild vsgnaikrlq vaqlypiaif ikprsleplm
      961 emnkrlteeq akktydraik leqefgeyft aivqgdtled iynqcklvie eqsgpfiwip
     1021 skekl
//
LOCUS       XP_016872988             459 aa            linear   PRI 20-MAR-2023
DEFINITION  histone H4 transcription factor isoform X2 [Homo sapiens].
ACCESSION   XP_016872988
VERSION     XP_016872988.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017499.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..459
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..459
                     /product="histone H4 transcription factor isoform X2"
                     /calculated_mol_wt=53541
     Region          <185..>317
                     /region_name="COG5236"
                     /note="Uncharacterized conserved protein, contains RING
                     Zn-finger [General function prediction only]"
                     /db_xref="CDD:227561"
     Region          188..207
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          215..237
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          245..265
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          271..292
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          300..320
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(305,307,309,311..312,315..316,319,333,335,339,342,
                     345..346,350,366,368,370,372..373,376..377)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          328..351
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          361..379
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..459
                     /gene="HINFP"
                     /gene_synonym="HiNF-P; MIZF; ZNF743"
                     /coded_by="XM_017017499.2:478..1857"
                     /db_xref="GeneID:25988"
                     /db_xref="HGNC:HGNC:17850"
                     /db_xref="MIM:607099"
ORIGIN      
        1 mfkwnlhfnr rvkampppgk vprkenlwlq cewgscsfvc stmekffehv tqhlqqhlhg
       61 sgeeeeeeee ddpleeefsc lwqecgfcsl dssadlirhv yfhcyhtklk qwglqalqsq
      121 adlgpcildf qsrnvipdip dhflclwehc ensfdnpewf yrhveahslc ceyeavgkdn
      181 pvvlcgwkgc tctfkdrskl rehlrshtqe kvvacptcgg mfanntkfld hirrqtsldq
      241 qhfqcshcsk rfaterllrd hmrnhvnhyk cplcdmtcpl psslrnhmrf rhsedrpfkc
      301 dccdyscknl idlqkhldth seepayrcdf enctfsarsl csikshyrkv hegdsepryk
      361 chvcdkcftr gnnltvhlrk khqfkwpsgh prfrpflsst pvtwipgllp slmfvpyfas
      421 lghfciplpg faalyaptsp gtrnmkmaic gcswfatrv
//
LOCUS       XP_047284150             492 aa            linear   PRI 20-MAR-2023
DEFINITION  exportin-T isoform X2 [Homo sapiens].
ACCESSION   XP_047284150
VERSION     XP_047284150.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428194.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..492
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..492
                     /product="exportin-T isoform X2"
                     /calculated_mol_wt=56546
     Region          21..88
                     /region_name="IBN_N"
                     /note="Importin-beta N-terminal domain; smart00913"
                     /db_xref="CDD:197981"
     Region          100..247
                     /region_name="Xpo1"
                     /note="Exportin 1-like protein; pfam08389"
                     /db_xref="CDD:429967"
     Region          313..>468
                     /region_name="Exportin-T"
                     /note="pfam19282"
                     /db_xref="CDD:437114"
     CDS             1..492
                     /gene="XPOT"
                     /gene_synonym="XPO3"
                     /coded_by="XM_047428194.1:488..1966"
                     /db_xref="GeneID:11260"
                     /db_xref="HGNC:HGNC:12826"
                     /db_xref="MIM:603180"
ORIGIN      
        1 mdeqallgln pnadsdfrqr alayfeqlki spdawqvcae alaqrtysdd hvkffcfqvl
       61 ehqvkykyse lttvqqqlir etliswlqaq mlnpqpektf irnkaaqvfa llfvteyltk
      121 wpkfffdils vvdlnprgvd lylrilmaid selvdrdvvh tseearrntl ikdtmreqci
      181 pnlveswyqi lqnyqftnse vtcqclevvg ayvswidlsl iandrfinml lghmsievlr
      241 eeacdclfev vnkgmdpvdk mklveslcqv lqsagffsid qeedvdflar fsklvngmgq
      301 slivswskli kngdiknaqe alqaietkva lmlqllihed ddissniigf cydylhilkq
      361 ltvlsdqqka nveaimlavm kkltydeeyn fenegedeam fveyrkqlkl lldrlaqvsp
      421 elllasvrrv fsstlqnwqt trfmevevai rllymlaeal pvshgahfsa gnirsqflsa
      481 yicdigvlrn cc
//
LOCUS       XP_011535593            1278 aa            linear   PRI 20-MAR-2023
DEFINITION  papilin isoform X2 [Homo sapiens].
ACCESSION   XP_011535593
VERSION     XP_011535593.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011537291.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1278
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1278
                     /product="papilin isoform X2"
                     /calculated_mol_wt=137570
     Region          29..80
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          85..182
                     /region_name="ADAM_CR_3"
                     /note="ADAM cysteine-rich domain; pfam19236"
                     /db_xref="CDD:437068"
     Region          184..298
                     /region_name="ADAM_spacer1"
                     /note="ADAM-TS Spacer 1; pfam05986"
                     /db_xref="CDD:428708"
     Region          308..360
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          366..424
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          427..480
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          488..538
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          754..804
                     /region_name="Kunitz_papilin"
                     /note="Kunitz domain of papilin, and similar proteins;
                     cd22635"
                     /db_xref="CDD:438678"
     Region          814..905
                     /region_name="Papilin_u7"
                     /note="Linking region between Kunitz_BPTI and I-set on
                     papilin; pfam16626"
                     /db_xref="CDD:374683"
     Region          914..>978
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          927..931
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          940..944
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          961..965
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1049..1119
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1061..1065
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1074..1078
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1095..1099
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1109..1114
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1122..1125
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1139..1219
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          1150..1154
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1162..1166
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1185..1189
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1199..1204
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1212..1215
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1235..1267
                     /region_name="PLAC"
                     /note="PLAC (protease and lacunin) domain; pfam08686"
                     /db_xref="CDD:430154"
     CDS             1..1278
                     /gene="PAPLN"
                     /gene_synonym="PPN"
                     /coded_by="XM_011537291.4:159..3995"
                     /db_xref="GeneID:89932"
                     /db_xref="HGNC:HGNC:19262"
                     /db_xref="MIM:617785"
ORIGIN      
        1 mrllllvpll lapapgssap kvrrqsdtwg pwsqwspcsr tcgggvsfre rpcysqrrdg
       61 gsscvgpars hrscrtescp dgardfraeq caefdgaefq grryrwlpyy sapnkcelnc
      121 ipkgenfyyk hreavvdgtp cepgkrdvcv dgscrvvgcd heldsskqed kclrcggdgt
      181 tcypvagtfd andlsrgynq ilivpmgats ilideaaasr nflavknvrg eyylnghwti
      241 eaaralpaas tilhyergae gdlaperlha rgptseplvi elisqepnpg vhyeyhlplr
      301 rpspgfswsh gswsdcsaec ggghqsrlvf ctidheaypd hmcqrqprpa drrscnlhpc
      361 petkrwkagp wapcsascgg gsqsrsvyci ssdgagiqea veeaecaglp gkppaiqacn
      421 lqrcaawspe pwgecsvscg vgvrkrsvtc rgergsllht aacsledrpp ltepcvhedc
      481 pllsdqawhv gtwglcsksc ssgtrrrqvi caigppshcg slqhskpvdv epcntqpchl
      541 pqevpsmqdv htpasnpwmp lgpqespasd srgqwwaaqe hpsargdhrg ergdprgdqg
      601 thlsalgpap slqqppyqqp lrsgsgphdc rhsphgccpd ghtaslgpqw qgcpgapcqq
      661 srygccpdrv svaegphhag ctksyggdst ggmprsrava stvhnthqpq aqqnepsecr
      721 gsqfgccydn vataagplge gcvgqpshay pvrcllpsah gscadwaarw yfvasvgqcn
      781 rfwyggchgn annfaseqec msscqgslhg prrpqpgasg rsthtdgggs spageqepsq
      841 hrtgaavqrk pwpsgglwrq dqqpgpgeap htqafgewpw gqelgsrapg lggdagspap
      901 pfhsssyris lagvepslvq aalgqlvrls csddtapesq aawqkdgqpi ssdrhrlqfd
      961 gsliihplqa edagtyscgs trpgrdsqki qlriiggdma vlseaelsrf pqprdpaqdf
     1021 gqagaagplg aipsshpqpa nrlrldqnqp rvvdaspgqr irmtcraegf pppaiewqrd
     1081 gqpvssprhq lqpdgslvis rvavedggfy tcvafngqdr dqrwvqlrvl geltisglpp
     1141 tvtvpegdta rllcvvages vnirwsrngl pvqadghrvh qspdgtlliy nlrardegsy
     1201 tcsayqgsqa vsrstevkvv spaptaqprd pgrdcvdqpe lancdlilqa qlcgneyyss
     1261 fccascsrfq phaqpiwq
//
LOCUS       XP_047287871             620 aa            linear   PRI 20-MAR-2023
DEFINITION  mitotic deacetylase-associated SANT domain protein isoform X2 [Homo
            sapiens].
ACCESSION   XP_047287871
VERSION     XP_047287871.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431915.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..620
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..620
                     /product="mitotic deacetylase-associated SANT domain
                     protein isoform X2"
                     /calculated_mol_wt=67222
     CDS             1..620
                     /gene="MIDEAS"
                     /gene_synonym="C14orf117; C14orf43; c14_5541; ELMSAN1;
                     LSR68"
                     /coded_by="XM_047431915.1:789..2651"
                     /db_xref="GeneID:91748"
                     /db_xref="HGNC:HGNC:19853"
ORIGIN      
        1 mnlqaqpkaq nkrkrclfgg qepapkeqpp plqppqqsir vkeeqylghe gpggavstsq
       61 pvelpppssl allnsvvygp ertsaamlsq qvasvkwpns vmapgrgper gggggvsdss
      121 wqqqpgqppp hstwnchsls lysatkgsph pgvgvptyyn hpealkreka ggpqldryvr
      181 pmmpqkvqle vgrpqaplns fhaakkppnq slplqpfqla fghqvnrqvf rqgppppnpv
      241 aafppqkqqq qqqpqqqqqq qqaalpqmpl fenfysmpqq psqqpqdfgl qpagplgqsh
      301 lahhsmapyp fppnpdmnpe lrkallqdsa pqpalpqvqi pfprrsrrls kegilppsal
      361 dgagtqpgqe atgnlflhhw plqqpppgsl gqphpealgf plelresqll pdgerlapng
      421 rereapamgs eegmravstg dcgqvlrggv iqstrrrrra sqeanlltla qkavelaslq
      481 nakdgsgsee krksvlastt kcgvefseps latkrareds gmvpliipvs vpvrtvdpte
      541 aaqagglded gkgpeqnpae hkpsvivtrr rstripgtda qaqkkfadfc prgddkkgfw
      601 tcsffqaclg gcgrqtkfqr
//
LOCUS       XP_016877822             539 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase MINDY-2 isoform X9 [Homo
            sapiens].
ACCESSION   XP_016877822
VERSION     XP_016877822.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017022333.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..539
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..539
                     /product="ubiquitin carboxyl-terminal hydrolase MINDY-2
                     isoform X9"
                     /calculated_mol_wt=57749
     Region          <19..>209
                     /region_name="PRK07003"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:235906"
     Region          279..374
                     /region_name="MINDY_DUB"
                     /note="MINDY deubiquitinase; pfam04424"
                     /db_xref="CDD:427941"
     CDS             1..539
                     /gene="MINDY2"
                     /gene_synonym="FAM63B"
                     /coded_by="XM_017022333.3:95..1714"
                     /db_xref="GeneID:54629"
                     /db_xref="HGNC:HGNC:26954"
                     /db_xref="MIM:618408"
ORIGIN      
        1 messpeslqp lehgvaagpa sgtgssqegl qetrlaagdg pgvwaaetsg gnglgaaaar
       61 rslpdsaspa gspevpgpcs ssagldlkds glespaaaea plrgqykvta spetavagvg
      121 helgtagdag arpdlagtcq aeltaagsee pssagglsss csdpsppges psldslesfs
      181 nlhsfpssce fnseegaenr vpeeeegaav lpgavplcke eegeetaqvl aaskerfpgq
      241 svyhikwiqw keentpiitq nengpcplla ilnvlllawk vklppmmeii taeqlmeylg
      301 dymldakpke iseiqrlnye qnmsdamail hklqtgldvn vrftgvrvfe ytpecivfdl
      361 ldiplyhgwl vdpqgqlyll vtdqgfltee kvvweslhnv dgdgnfcdse fhlrppsdpe
      421 tvykgqqdqi dqdylmalsl qqeqqsqein weqipegisd lelakklqee edrrasqyyq
      481 eqeqaaaaaa aastqaqqgq paqaspssgr qsgnserkrk eprekdkeke keknscvil
//
LOCUS       XP_016878626             161 aa            linear   PRI 20-MAR-2023
DEFINITION  glycine cleavage system H protein, mitochondrial isoform X2 [Homo
            sapiens].
ACCESSION   XP_016878626
VERSION     XP_016878626.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017023137.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..161
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..161
                     /product="glycine cleavage system H protein, mitochondrial
                     isoform X2"
                     /calculated_mol_wt=17579
     Region          31..158
                     /region_name="PRK01202"
                     /note="glycine cleavage system protein GcvH"
                     /db_xref="CDD:234918"
     Site            89
                     /site_type="other"
                     /note="lipoyl attachment site [posttranslational
                     modification]"
                     /db_xref="CDD:133457"
     CDS             1..161
                     /gene="GCSH"
                     /gene_synonym="GCE; NKH"
                     /coded_by="XM_017023137.2:95..580"
                     /db_xref="GeneID:2653"
                     /db_xref="HGNC:HGNC:4208"
                     /db_xref="MIM:238330"
ORIGIN      
        1 mshlyaasln litpnlssea qiffsarqts nmrkftekhe wvttengigt vgisnfaqea
       61 lgdvvycslp evgtklnkqd efgalesvka aselysplsg evteineala enpglvnksc
      121 yedgcllvag wlikmtlsnp seldelmsee ayekyiksie e
//
LOCUS       XP_011544171             413 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptotagmin-17 isoform X7 [Homo sapiens].
ACCESSION   XP_011544171
VERSION     XP_011544171.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011545869.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..413
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..413
                     /product="synaptotagmin-17 isoform X7"
                     /calculated_mol_wt=46754
     Region          125..253
                     /region_name="C2A_Synaptotagmin-15-17"
                     /note="C2A domain first repeat present in Synaptotagmins
                     15 and 17; cd08390"
                     /db_xref="CDD:176036"
     Region          262..396
                     /region_name="C2B_Synaptotagmin-17"
                     /note="C2 domain second repeat present in Synaptotagmin
                     17; cd08410"
                     /db_xref="CDD:176055"
     CDS             1..413
                     /gene="SYT17"
                     /gene_synonym="Syt-17; sytXVII"
                     /coded_by="XM_011545869.3:596..1837"
                     /db_xref="GeneID:51760"
                     /db_xref="HGNC:HGNC:24119"
ORIGIN      
        1 masrssdkdg dsvhtasevp ltprtnspdg rrsssdtsks tysltrriss lesrrpsspl
       61 idikpiefgv lsakkepiqp svlrrtynpd dyfrkfephl ysldsnsddv dsltdeeils
      121 kyqlgmlhfs tqydllhnhl tvrvieardl pppishdgsr qdmahsnpyv kicllpdqkn
      181 skqtgvkrkt qkpvfeeryt feipfleaqr rtllltvvdf dkfsrhcvig kvsvplcevd
      241 lvkgghwwka lipssqneve lgelllslny lpsagrlnvd virakqllqt dvsqgsdpfv
      301 kiqlvhglkl vktkktsflr gtidpfynes fsfkvpqeel enaslvftvf ghnmkssndf
      361 igrivigqys sgpsetnhwr rmlnthrtav eqwhslrsra ecdrvspasl evt
//
LOCUS       XP_005256079             774 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RFWD3 isoform X1 [Homo sapiens].
ACCESSION   XP_005256079
VERSION     XP_005256079.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005256022.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..774
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..774
                     /product="E3 ubiquitin-protein ligase RFWD3 isoform X1"
                     /calculated_mol_wt=84963
     Region          283..343
                     /region_name="mRING-C3HGC3_RFWD3"
                     /note="Modified RING finger, C3HGC3-type, found in RING
                     finger and WD repeat domain-containing protein 3 (RFWD3)
                     and similar proteins; cd16450"
                     /db_xref="CDD:438114"
     Region          <486..774
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          500..537
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          543..580
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          588..655
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..774
                     /gene="RFWD3"
                     /gene_synonym="FANCW; RNF201"
                     /coded_by="XM_005256022.5:2548..4872"
                     /db_xref="GeneID:55159"
                     /db_xref="HGNC:HGNC:25539"
                     /db_xref="MIM:614151"
ORIGIN      
        1 maheameydv qvqlnhaeqq papagmassq ggpallqpvp advvssqgvp silqpapaev
       61 issqatppll qpapqlsvdl tevevlgedt veninprtse qhrqgsdgnh tipasslhsm
      121 tnfisglqrl hgmleflrps ssnhsvgpmr trrrvsasrr araggsqrtd sarlraplda
      181 yfqvsrtqpd lpattydset rnpvseelqv ssssdsdsds saeyggvvdq aeesgavile
      241 eqlagvsaeq evtcidggkt lpkqpspqks epllpsasmd eeegdtctic leqwtnagdh
      301 rlsalrcghl fgyrcistwl kgqvrkcpqc nkkarhsdiv vlyartlral dtseqermks
      361 sllkeqmlrk qaelesaqcr lqlqvltdkc trlqrrvqdl qkltshqsqn lqqprgsqaw
      421 vlscspssqg qhkhkyhfqk tftvsqagnc rimaycdals clvisqpspq asflpgfgvk
      481 mlstanmkss qyipmhgkqi rglafssylr glllsasldn tikltsletn tvvqtynagr
      541 pvwsccwcld eanyiyagla ngsilvydvr ntsshvqelv aqkarcplvs lsympraasa
      601 afpyggvlag tledasfweq kmdfshwphv lplepggcid fqtenssrhc lvtyrpdknh
      661 ttirsvlmem syrlddtgnp icscqpvhtf fggptckllt knaifqspen dgnilvctgd
      721 eaansallwd aasgsllqdl qtdqpvldic pfevnrnsyl atltekmvhi ykwe
//
LOCUS       XP_011521649            2898 aa            linear   PRI 20-MAR-2023
DEFINITION  chromodomain-helicase-DNA-binding protein 9 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011521649
VERSION     XP_011521649.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523347.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2898
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..2898
                     /product="chromodomain-helicase-DNA-binding protein 9
                     isoform X1"
                     /calculated_mol_wt=325963
     Region          161..558
                     /region_name="GAT1"
                     /note="GATA Zn-finger-containing transcription factor
                     [Transcription]; COG5641"
                     /db_xref="CDD:227928"
     Region          176..>362
                     /region_name="ROM1"
                     /note="RhoGEF, Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases [Signal transduction
                     mechanisms]; COG5422"
                     /db_xref="CDD:227709"
     Region          686..750
                     /region_name="CD1_tandem_CHD5-9_like"
                     /note="repeat 1 of the paired tandem chromodomains of
                     chromodomain helicase DNA-binding protein 5-9, and similar
                     proteins; cd18668"
                     /db_xref="CDD:349315"
     Site            order(690,720,722..723,727)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:349315"
     Region          770..828
                     /region_name="CD2_tandem_CHD5-9_like"
                     /note="repeat 2 of the paired tandem chromodomains of
                     chromodomain helicase DNA-binding protein 5-9, and similar
                     proteins; cd18663"
                     /db_xref="CDD:349310"
     Site            order(795,812)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:349310"
     Region          811..>1480
                     /region_name="PLN03142"
                     /note="Probable chromatin-remodeling complex ATPase chain;
                     Provisional"
                     /db_xref="CDD:215601"
     Region          2483..2532
                     /region_name="BRK"
                     /note="domain in transcription and CHROMO domain
                     helicases; smart00592"
                     /db_xref="CDD:197800"
     Region          2557..2601
                     /region_name="BRK"
                     /note="domain in transcription and CHROMO domain
                     helicases; smart00592"
                     /db_xref="CDD:197800"
     CDS             1..2898
                     /gene="CHD9"
                     /gene_synonym="AD013; CHD-9; CReMM; KISH2; PRIC320"
                     /coded_by="XM_011523347.3:308..9004"
                     /db_xref="GeneID:80205"
                     /db_xref="HGNC:HGNC:25701"
                     /db_xref="MIM:616936"
ORIGIN      
        1 mtdpmmdffd danlfgetle glsddafvqp gpvslvdeln lgaefeplhi dslnhvqgtp
       61 thqkmtdfeq lnqfdsikfh hvnqsfgspa ehvlsphsqf ncspihpqnq pnglfpdvsd
      121 gspmwghqta ttisnqngsp fhqqghshsm hqnksfvahh dfalfqaneq qtqctslrsq
      181 qnrnnlnpgq nslsqsknfm nvsgphrvnv nhppqmtnas nsqqsismqq fsqtsnpsah
      241 fhkcsshqeg nfngpspnmt scsvsnsqqf sshysfssnh ispnsllqss avlasnhtnq
      301 tlsdftgsns fsphrgikqe stqhilnpnt slnsnnfqil hsshpqgnys nsklspvhmn
      361 fpdpvdsgtq mghfndhvet ngfssleenl lhqvesqtep ftgldpedll qegllphfde
      421 stfgqdnssh ildhdldrqf tshlvtrpsd maqtqlqsqa rswhssfsnh qhlhdrnhlc
      481 lqrqppsskk sdgsgtytkl qntqvrvmse kkqrkkvese skqekanrii seaiakaker
      541 gerniprvms penfptasve gkeekkgrrm kskpkdkdsk ktktcsklke ktkigkliit
      601 lgkkqkrkne ssdeisdaeq mpqhtlkdqd sqkrrsnrqi krkkyaedie gkqseeevkg
      661 smkikknsap lpgeqplqlf venpseedaa ivdkilssrt vkkeispgvm idteeffvky
      721 knysylhcew ateeqllkdk riqqkikrfk lrqaqrahff admeeepfnp dyvevdrvle
      781 vsfcedkdtg epviyylvkw cslpyedstw elkedvdlak ieefeqlqas rpdtrrldrp
      841 psniwkkidq srdykngnql reyqleglnw llfnwynrrn cilademglg ktiqsitfly
      901 eilltgirgp fliiaplsti anwerefrtw tdinvvvyhg slisrqmiqq yemyfrdsqg
      961 riirgayrfq aiittfemil ggcgelnaie wrcviideah rlknknckll eglklmnleh
     1021 kvlltgtplq ntveelfsll hfleplrfps estfmqefgd lkteeqvqkl qailkpmmlr
     1081 rlkedvekkl apkeetiiev eltniqkkyy raileknfsf lskgagqtnv pnlvntmmel
     1141 rkccnhpyli kgaeekilge frdtynpaas dfhlqamiqs agklvlidkl lpkmkagghk
     1201 vlifsqmvrc ldiledylih krylyeridg rvrgnlrqaa idrfskpdsd rfvfllctra
     1261 gglginltaa dtciifdsdw npqndlqaqa rchrigqnka vkvyrlvtrn syeremfdra
     1321 slklgldkav lqsmsgresn vggiqqlskk eiedllrrga ygaimeeede gskfceedid
     1381 qillrrtkti tiesegrgst fakasfvasg nrtdislddp nfwqkwakka eidieaisgr
     1441 nslvidtpri rkqtrpfsat kdelaelsea esegdekpkl rrpcdrsngy grtecfrvek
     1501 nllvygwgrw reilshgrfk rqlnehdvei icrallaycl vhyrgdekik gfiwdlitpt
     1561 edgqtrelqn hlglsapvpr grkgkkvktq tssfdiqkae wlrkynpeql lqdegykkhi
     1621 khhcnkvllr vrmlyylkqe vignecqkvf dgvdasdidv wvpepdhsev paewwdfdad
     1681 kslligvfkh gyekyntira dpalcflerv gkpdekavaa eqrandymdg dvedpeykpa
     1741 paifkddied dvsspgdlvi adgdgqlmeg dkvywptqsa lttrlrrlit ayqrtnknrq
     1801 iqqiqptfsv ptsvmqpiye eatlnpkmaa kierqqrwtr reeadfyrvv stfgvvfdpd
     1861 rgqfdwtkfr amarlhkktd dslekylyaf msmcrrvcrl pskeelvdpn ifiqpiteer
     1921 asrtlyriel lrkvreqalr hpqlferlkl chpnpdlpvw wecgphdrdl ligaakhgvs
     1981 rtdyhilrdp elsfmaaqrn ysqskmahsr tstpllqqyq valsasplts lprlldakgi
     2041 ileemkvkse nlkeepqsse eesmssvetr tliksepvsp kngvlpqatg dqksggkcet
     2101 drrmvaarte pltpnpaskk prvhkrgses ssdsdsdser sscssrssss ssssscshsr
     2161 sgssssssss cssassssss stssssssss ssseesdsde eeaqkraest thmkaydees
     2221 vaslsttqde tqdsfqmnng tpesayilqg gymlaasywp kdrvminrld sicqtvlkgk
     2281 wpsarrsyda ntvasfyttk lldspgaate ysdpsvptpp gagvkeehdq stqmskvkkh
     2341 vrekeftvki kdegglkltf qkqglaqkrp fdgedgalgq qqyltrlrel qsasetslvn
     2401 fpksipvsgt siqptlgang vildnqpivk krrgrrknve gvdifffnrn kppnhvslgl
     2461 tssqistgin palsytqpqg ipdtespvpv inlkdgtrla gddapkrkdl ekwlkehpgy
     2521 vedlgafipr mqlhegrpkq krhrcrnpnk ldvnsltgee rvqlinrrna rkvggafapp
     2581 lkdlcrflke nseygvapew gdvvkqsgfl pesmyerilt gpvvreevsr rgrrpksgia
     2641 kataaaaaas atsvsgnpll angllpgvdl ttlqalqqnl qnlqslqvta glmgmptglp
     2701 sggeaknmaa mfpmllsgma glpnllgmgg lltkptesgt edkkgsdske segktertes
     2761 qssenggens vssspstsst aalntaaaan plalnpllls nilypgmllt pglnlhiptl
     2821 sqsntfdvqn knsdlgssks vevkeedsri kdqedkggte psplnenstd egsekadass
     2881 gsdstsssse dsdssned
//
LOCUS       XP_016880829             483 aa            linear   PRI 20-MAR-2023
DEFINITION  glucagon-like peptide 2 receptor isoform X3 [Homo sapiens].
ACCESSION   XP_016880829
VERSION     XP_016880829.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017025340.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..483
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..483
                     /product="glucagon-like peptide 2 receptor isoform X3"
                     /calculated_mol_wt=54631
     Region          105..383
                     /region_name="7tmB1_GLP2R"
                     /note="glucagon-like peptide-2 receptor, member of the
                     class B family of seven-transmembrane G protein-coupled
                     receptors; cd15266"
                     /db_xref="CDD:320394"
     Site            order(106,112,116,154,158,161..162,165,191,197..198,201,
                     205,261..262,269..270,272..274,328,331,348..349,352)
                     /site_type="other"
                     /note="putative polypeptide ligand binding pocket
                     [polypeptide binding]"
                     /db_xref="CDD:320394"
     Region          107..132
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320394"
     Site            order(135,144,215,218..220,295,298,316..317,320,323,
                     365..366,369..370,372,376,379,383)
                     /site_type="other"
                     /note="putative G protein interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:320394"
     Region          141..163
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320394"
     Region          191..218
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320394"
     Region          230..250
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320394"
     Region          266..295
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320394"
     Site            order(295,311..312,314..316,318..319,361,365,369..371)
                     /site_type="other"
                     /note="putative allosteric modulator binding site
                     [chemical binding]"
                     /db_xref="CDD:320394"
     Region          309..336
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320394"
     Region          345..370
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320394"
     CDS             1..483
                     /gene="GLP2R"
                     /coded_by="XM_017025340.2:141..1592"
                     /db_xref="GeneID:9340"
                     /db_xref="HGNC:HGNC:4325"
                     /db_xref="MIM:603659"
ORIGIN      
        1 mklgssragp grgsagllpg vhelpmgipa pwgtsplsfh rkcslwapgr pfltlvllvs
       61 ikqayfvtgh listcvglil llemslypal htylggvkvd ryallstlql mytvgysfsl
      121 islflaltll lflrklhctr nyihmnlfas filrtlavlv kdvvfynsys krpdnengwm
      181 sylsemstsc rsvqvllhyf vganylwllv eglylhtlle ptvlperrlw prylllgwaf
      241 pvlfvvpwgf arahlentgc wttngnkkiw wiirgpmmlc vtvnffiflk ilkllisklk
      301 ahqmcfrdyk yrlakstlvl ipllgvheil fsfitddqve gfaklirlfi qltlssfhgf
      361 lvalqygfan gevkaelrky wvrfllarhs gcracvlgkd frflgkcpkk lsegdgaekl
      421 rklqpslnsg rllhlamrgl gelgaqpqqd harwprgssl secsegdvtm antmeeilee
      481 sei
//
LOCUS       XP_047293154            1649 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing protein 37A isoform X3 [Homo
            sapiens].
ACCESSION   XP_047293154
VERSION     XP_047293154.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437198.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1649
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1649
                     /product="leucine-rich repeat-containing protein 37A
                     isoform X3"
                     /calculated_mol_wt=182165
     Region          <206..>704
                     /region_name="PRK10263"
                     /note="DNA translocase FtsK; Provisional"
                     /db_xref="CDD:236669"
     Region          251..319
                     /region_name="LRRC37"
                     /note="Leucine-rich repeat-containing protein 37 family;
                     pfam15779"
                     /db_xref="CDD:434930"
     Region          560..629
                     /region_name="LRRC37"
                     /note="Leucine-rich repeat-containing protein 37 family;
                     pfam15779"
                     /db_xref="CDD:434930"
     Region          <689..739
                     /region_name="LRRC37"
                     /note="Leucine-rich repeat-containing protein 37 family;
                     pfam15779"
                     /db_xref="CDD:434930"
     Region          734..>799
                     /region_name="LRRC37"
                     /note="Leucine-rich repeat-containing protein 37 family;
                     pfam15779"
                     /db_xref="CDD:434930"
     Region          868..890
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          891..914
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          892..944
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          915..938
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          1417..1562
                     /region_name="LRRC37AB_C"
                     /note="LRRC37A/B like protein 1 C-terminal domain;
                     pfam14914"
                     /db_xref="CDD:434309"
     CDS             1..1649
                     /gene="LRRC37A"
                     /gene_synonym="LRRC37"
                     /coded_by="XM_047437198.1:4..4953"
                     /db_xref="GeneID:9884"
                     /db_xref="HGNC:HGNC:29069"
                     /db_xref="MIM:616555"
ORIGIN      
        1 mssaqcpalv cvmsrlrfwg pwpllmwqll wllvkeaqpl ewvkdplqlt snplgppesw
       61 sshsshfpre sphaptlpad pwdfdhlgps assempappq estenlvpfl dtwdsageqp
      121 lepeqflasq qdlkdklspq erlpvspkkl kkdpaqrwsl aeiigitrql stpqsqkqtl
      181 qneysstdtp ypgslppelr vksdeppgps eqvgpsqfhl epetqnpetl ediqssslqq
      241 eapaqlpqll eeepssmqqe apalppessm esltlpnhev svqppgedqa yyhlpnitvk
      301 padvevtits eptnetessq aqqetpiqfp eevepsatqq eapieppvpp mehelsiseq
      361 qqpvqpsesp revessptqq etpgqppehh evtvsppghh qthhlaspsv svkppdvqlt
      421 iaaepsaevg tslvhqeatt rlsgsgndve ppaiqhggpp llpesseeag plavqqetsf
      481 qspepinnen psptqqeaaa ehpqtaeege sslthqeapa qtpefpnvvv aqppehshlt
      541 qatvqpldlg ftitpeskte velsptmket ptqppkkvvp qlrvyqgvtn ptpgqdqaqh
      601 pvspsvtvql ldlgltitpe pttevghstp pkrtivspkh pevtlphpdq vqtqhshltr
      661 atvqpldlgf titpksmtev epstalmtta pppghpevtl ppsdkgqaqh shltqatvqp
      721 ldleltittk pttevkpspt teetstqppd lglaiipept tetghstale kttaprpdrv
      781 qtlhrsltev tgpptelepa qdslvqsesy tqnkaltape ehkaststni celctcgdem
      841 lscidlnpeq rlrqvpvpep nthngtftil nfqgnyisyi dgnvwkaysw teklilrenn
      901 ltelhkdsfe gllslqylil nhnplttved pylfklpalk yldmgttlvp lttlknilmm
      961 tveleklilp shmacclcqf knsieavckt vklhcnsacl tntthcpeea svgnpegafm
     1021 kvlqarknyt stelivepee psdssginls gfgseqldtn desdfistls yilpyfsavn
     1081 ldvkslllpf iklpttgnsl akiqtvgqnr qrvkrvlmgp rsiqkrhfke vgrqsirreq
     1141 gaqasvenaa eekrltspap reveqphtqq gpeklagnav ytkpsftqeh kaavsvlkpf
     1201 skgtpstssp akalpqvrdr skdlthaisi lesakarvtn tktskpivha rkkyrfhktr
     1261 shvthrttkv kkspkvrkks ylsrlmlanr lpfsaaksli nspsqgafss lgdlspqenp
     1321 flevsalseh fieknntkht tarnafeend fmentnmpeg tisentnynh ppeadsagta
     1381 fnlgptvkqt etkweynnvg tdlspepksf nypllsspgd qfeiqltqql qslipnnnvr
     1441 rliahvirtl kmdcsgahvq vtcaklisrt ghlmkllsgq qevkaskiew dtdqwkieny
     1501 inesteaqse qkekslelkk evpgygytdk lilalivtgi ltiliilfcl ivicchrrsl
     1561 qedeegfsrg ifrflpwrgc ssrresqdgl ssfgqplwfk dlykplsatr innhawklhk
     1621 kssnedkiln rdpgdseapt eeeesealp
//
LOCUS       XP_047293190             327 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124900389 isoform X1 [Homo sapiens].
ACCESSION   XP_047293190
VERSION     XP_047293190.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437234.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..327
                     /product="uncharacterized protein LOC124900389 isoform X1"
                     /calculated_mol_wt=35531
     Region          <155..187
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:450141"
     CDS             1..327
                     /gene="LOC124900389"
                     /coded_by="XM_047437234.1:2490..3473"
                     /db_xref="GeneID:124900389"
ORIGIN      
        1 mtqmkvrsvv stslpglpql wppvhswtpg wprrtthhpv gggpggngvq alippqgnpp
       61 glipalslec lmklswstiw efqerlfqsw apednvvlrn lqtsvkeltr khwdlpppgg
      121 qghcrspgdh aghqgtaspd avrihirepg qarpetlspc sdedvegwlk gvnscehccl
      181 fpasllqcrq saprslaqqr pecpsplcqh gtrrlrgpac cttrllealf cslapaaata
      241 gttakclpag lprgqrhpav iasaahtvki vsstfpcshq reslqrvlli lrwgkqhtrw
      301 tqllslatmi agwahkaair qacwgra
//
LOCUS       XP_047293444             440 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of MON1-CCZ1 complex isoform X2 [Homo sapiens].
ACCESSION   XP_047293444
VERSION     XP_047293444.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437488.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..440
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..440
                     /product="regulator of MON1-CCZ1 complex isoform X2"
                     /calculated_mol_wt=48882
     CDS             1..440
                     /gene="RMC1"
                     /gene_synonym="C18orf8; HsT2591; Mic-1; MIC1; WDR98"
                     /coded_by="XM_047437488.1:150..1472"
                     /db_xref="GeneID:29919"
                     /db_xref="HGNC:HGNC:24326"
                     /db_xref="MIM:620267"
ORIGIN      
        1 mgeedyylel cerpvqfeka npvncvffde ankqvfavrs ggatgvvvkg pddrnpisfr
       61 mddkgevkci kfslenkila vqrtsktvdf cnfipdnsql eytqecktkn anilgfcwts
      121 steivfitdq giefyqvlpe krslkllksh nlnvnwymyc pesavillst tvlenvlqpf
      181 hfragtmskl pkfeielpaa pkstkpslse rdiamatiyg qlyvlflrhh srtsnstgae
      241 vvlyhlpreg ackkmhilkl nrtgkfalnv vdnlvvvhhq dtetsvifdi klrgefdgsv
      301 tfhhpvlpar siqpyqipit gpaavtsqsp vpcklysssw ivfqpdiiis asqgylwnlq
      361 vklepivnll pdkgrlmdfl lqrkeckmvi lsvcsqsggs raepkqpapq eagadpggag
      421 pvrcvhpcpv slcgkegdas
//
LOCUS       XP_047293597             485 aa            linear   PRI 20-MAR-2023
DEFINITION  CUGBP Elav-like family member 4 isoform X14 [Homo sapiens].
ACCESSION   XP_047293597
VERSION     XP_047293597.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437641.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..485
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..485
                     /product="CUGBP Elav-like family member 4 isoform X14"
                     /calculated_mol_wt=51764
     Region          49..135
                     /region_name="RRM1_CELF3_4_5_6"
                     /note="RNA recognition motif 1 (RRM1) found in CUGBP
                     Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and
                     similar proteins; cd12632"
                     /db_xref="CDD:410041"
     Site            order(55,57,59..60,63,82,84,86,95..97,99,129,131)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410041"
     Region          <56..378
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     Region          151..231
                     /region_name="RRM2_CELF3_4_5_6"
                     /note="RNA recognition motif 2 (RRM2) found in CUGBP
                     Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and
                     similar proteins; cd12635"
                     /db_xref="CDD:410043"
     Site            order(153,155,157..158,161,180,182,184,192..194,196,226,
                     228)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410043"
     Region          414..484
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     CDS             1..485
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /coded_by="XM_047437641.1:158..1615"
                     /db_xref="GeneID:56853"
                     /db_xref="HGNC:HGNC:14015"
                     /db_xref="MIM:612679"
ORIGIN      
        1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq
       61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt
      121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee
      181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr
      241 mqqmagqmgm fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma
      301 alnmnglaaa pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan
      361 gihpypaqsp taadplqqay agvqqyagpa ypaaygqisq afpqpppmip qqqregpegc
      421 nlfiyhlpqe fgdaelmqmf lpfgfvsfdn pasaqtaiqa mngfqigmkr lkvqlkrpkd
      481 anrpy
//
LOCUS       XP_011527302             907 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidate phosphatase LPIN3 isoform X2 [Homo sapiens].
ACCESSION   XP_011527302
VERSION     XP_011527302.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011529000.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..907
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..907
                     /product="phosphatidate phosphatase LPIN3 isoform X2"
                     /calculated_mol_wt=99204
     Region          1..107
                     /region_name="Lipin_N"
                     /note="lipin, N-terminal conserved region; pfam04571"
                     /db_xref="CDD:428016"
     Region          438..529
                     /region_name="Lipin_mid"
                     /note="Lipin/Ned1/Smp2 multi-domain protein middle domain;
                     pfam16876"
                     /db_xref="CDD:435622"
     Region          592..873
                     /region_name="LNS2"
                     /note="LNS2 (Lipin/Ned1/Smp2); pfam08235"
                     /db_xref="CDD:429879"
     CDS             1..907
                     /gene="LPIN3"
                     /gene_synonym="dJ620E11.2; LIPN3L; SMP2"
                     /coded_by="XM_011529000.3:191..2914"
                     /db_xref="GeneID:64900"
                     /db_xref="HGNC:HGNC:14451"
                     /db_xref="MIM:605520"
ORIGIN      
        1 mnyvgqlaet vfgtvkelyr glnpatlsgg idvlvvkqvd gsfrcspfhv rfgklgvlrs
       61 rekvvdieln gepvdlhmkl gdsgeaffvq elesddehvp pglctspipw gglsgfpsds
      121 qlgtasepeg lvmagtastg rrkrrrrrkp kqkedavatd sspeeleaga eselslpekl
      181 rpeppgvqle eksslqpkdi ypysdgewpp qaslsagelt spksdselev rtpepsplra
      241 eshmqwawgr lpkvaraerp essvvlegra gatspprggp stpstsvagg vdplglpiqq
      301 teagadlqpd tedptlvgpp lhtpeteesk tqssgdmglp paskswswat levpvptgqp
      361 ervsrgkgsp krsqhlgpsd iylddlpsld senaalyfpq sdsglgarrw sepssqkslr
      421 dpnpehepep tldtvdtial slcggladsr dislekfnqh svsyqdltkn pgllddpnlv
      481 vkingkhynw avaapmilsl qafqknlpks tmdklerekm prkggrwwfs wrrrdflaee
      541 rsaqkektaa keqqgektev lssdddapds pvileipslp pstppstpty kkslrlssdq
      601 irrlnlqega ndvvfsvttq yqgtcrckat iylwkwddkv visdidgtit ksdalghilp
      661 qlgkdwthqg itslyhkiql irahllacsr rggplhpgpp rpqdsvhrpa estawpfsss
      721 plpakvgtse shswagqaka retdggwlvs dgsmppcppl semgtsscta rrgplawrts
      781 prgtcsgevi ekkpevfkva clsdiqqlfl phgqpfyaaf gnrpndvfay rqvglpesri
      841 ftvnprgeli qeliknhkst yerlgevvel lfppvargps tdlanpeysn fcywreplpa
      901 vdldtld
//
LOCUS       XP_011527660             206 aa            linear   PRI 20-MAR-2023
DEFINITION  synapse differentiation-inducing gene protein 1 isoform X5 [Homo
            sapiens].
ACCESSION   XP_011527660
VERSION     XP_011527660.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011529358.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..206
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..206
                     /product="synapse differentiation-inducing gene protein 1
                     isoform X5"
                     /calculated_mol_wt=23027
     Region          177..>206
                     /region_name="CD225"
                     /note="Interferon-induced transmembrane protein;
                     pfam04505"
                     /db_xref="CDD:427986"
     CDS             1..206
                     /gene="SYNDIG1"
                     /gene_synonym="C20orf39; DSPC2; IFITMD5; TMEM90B"
                     /coded_by="XM_011529358.3:204..824"
                     /db_xref="GeneID:79953"
                     /db_xref="HGNC:HGNC:15885"
                     /db_xref="MIM:614311"
ORIGIN      
        1 mdgiieqksm lvhskisdag krnglintrn lmaesrdglv svypapqyqs hrvgastvpa
       61 sldssrsepm qqlldpntlq qsvesryrpn iilysegvlr swgdgvaadc cettfiedrs
      121 ptkdsleypd gkfidlsadd ikihtlsydv eeeeefqele sdyssdtese dnflmmpprd
      181 hlglsvfsml ccfwplgiaa fylshe
//
LOCUS       XP_011528287             485 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 116 isoform X4 [Homo
            sapiens].
ACCESSION   XP_011528287
VERSION     XP_011528287.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011529985.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..485
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..485
                     /product="coiled-coil domain-containing protein 116
                     isoform X4"
                     /calculated_mol_wt=53485
     Region          84..>274
                     /region_name="DUF4702"
                     /note="Domain of unknown function (DUF4702); pfam15774"
                     /db_xref="CDD:434927"
     CDS             1..485
                     /gene="CCDC116"
                     /coded_by="XM_011529985.2:73..1530"
                     /db_xref="GeneID:164592"
                     /db_xref="HGNC:HGNC:26688"
ORIGIN      
        1 mgameqrkgw mhegggvrga rdpqtpgpqm rgpigdpqvv spphaernaq lkrevgsrpg
       61 hlpgdhmarc rhhsgyladd eashsmcsar vqlpkkplvp emrpackpgr vphppstcgs
      121 salqgqrrnk rhpqpfghfl dfltesqvld sletvvekat ermaamktea gvplvevqdp
      181 vevpsggrra harpslstvh rhrvrptlct ghpnnypsss ssmsnchssl magclgshsr
      241 dsdlgaqgsl ppvrdkllle knlkrllqle regspcsssr ftkkkplpsi sskssmshfs
      301 nrlyeeladf ltqqaaslvi rkyefekdls kqlgffsfpi thvlrdlslg lkkvkgsrih
      361 lssethrscl lrkleeskra rqasrlstsh cstetpsvqq epathtaqdq atepcrslyt
      421 nlpasrqlsp lepklymsac tgmgssppks kdmdnegrdk aeiededede fkdedqdedk
      481 dedgv
//
LOCUS       XP_047303504             895 aa            linear   PRI 20-MAR-2023
DEFINITION  dystroglycan 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047303504
VERSION     XP_047303504.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447548.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..895
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..895
                     /product="dystroglycan 1 isoform X1"
                     /calculated_mol_wt=97311
     Region          62..163
                     /region_name="Dystroglycan_repeat"
                     /note="Cadherin-like repeat domain of alpha dystroglycan;
                     cd11303"
                     /db_xref="CDD:206636"
     Region          182..304
                     /region_name="a_DG1_N2"
                     /note="Alpha-Dystroglycan N-terminal domain 2; pfam18424"
                     /db_xref="CDD:436491"
     Site            order(199..200,204..205,207..208,211,222..228)
                     /site_type="other"
                     /note="CA-like domain interface [polypeptide binding]"
                     /db_xref="CDD:206765"
     Region          <303..>404
                     /region_name="PRK14971"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237874"
     Region          498..602
                     /region_name="Dystroglycan_repeat"
                     /note="Cadherin-like repeat domain of alpha dystroglycan;
                     cd11303"
                     /db_xref="CDD:206636"
     Region          606..895
                     /region_name="DAG1"
                     /note="Dystroglycan (Dystrophin-associated glycoprotein
                     1); pfam05454"
                     /db_xref="CDD:428478"
     CDS             1..895
                     /gene="DAG1"
                     /gene_synonym="156DAG; A3a; AGRNR; DAG; LGMDR16; MDDGA9;
                     MDDGC7; MDDGC9"
                     /coded_by="XM_047447548.1:577..3264"
                     /db_xref="GeneID:1605"
                     /db_xref="HGNC:HGNC:2666"
                     /db_xref="MIM:128239"
ORIGIN      
        1 mrmsvglsll lplsgrtfll llsvvmaqsh wpsepseavr dwenqleasm hsvlsdlhea
       61 vptvvgipdg tavvgrsfrv tiptdliass gdiikvsaag kealpswlhw dsqshtlegl
      121 pldtdkgvhy isvsatrlga ngshipqtss vfsievyped hselqsvrta spdpgevvss
      181 acaadepvtv ltvildadlt kmtpkqridl lhrmrsfsev elhnmklvpv vnnrlfdmsa
      241 fmagpgnakk vvengallsw klgcslnqns vpdihgveap aregamsaql gypvvgwhia
      301 nkkpplpkrv rrqihatptp vtaigpptta iqeppsrivp tptspaiapp tetmappvrd
      361 pvpgkptvti rtrgaiiqtp tlgpiqptrv seagttvpgq irptmtipgy veptavatpp
      421 ttttkkprvs tpkpatpstd stttttrrpt kkprtprpvp rvttkvsitr letaspptri
      481 rtttsgvprg gepnqrpelk nhidrvdawv gtyfevkips dtfydhedtt tdklkltlkl
      541 reqqlvgeks wvqfnsnsql myglpdsshv gkheyfmhat dkgglsavda feihvhrrpq
      601 gdraparfka kfvgdpalvl ndihkkialv kklafafgdr ncstitlqni trgsivvewt
      661 nntlplepcp keqiaglsrr iaeddgkprp afsnalepdf katsitvtgs gscrhlqfip
      721 vvpprrvpse apptevpdrd peksseddvy lhtvipavvv aailliagii amicyrkkrk
      781 gkltledqat fikkgvpiif adelddskpp psssmplilq eekaplpppe ypnqsvpett
      841 plnqdtmgey tplrdedpna ppyqppppft apmegkgsrp knmtpyrspp pyvpp
//
LOCUS       XP_047303712            1523 aa            linear   PRI 20-MAR-2023
DEFINITION  CLIP-associating protein 2 isoform X12 [Homo sapiens].
ACCESSION   XP_047303712
VERSION     XP_047303712.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447756.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1523
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1523
                     /product="CLIP-associating protein 2 isoform X12"
                     /calculated_mol_wt=166739
     Region          131..157
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          167..201
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          168..198
                     /region_name="HEAT"
                     /note="HEAT repeat; pfam02985"
                     /db_xref="CDD:427093"
     Region          326..538
                     /region_name="CLASP_N"
                     /note="CLASP N terminal; pfam12348"
                     /db_xref="CDD:432496"
     Region          <671..>759
                     /region_name="CoV_N-NTD"
                     /note="N-terminal domain of nucleocapsid (N) protein of
                     coronavirus; cl41918"
                     /db_xref="CDD:455263"
     CDS             1..1523
                     /gene="CLASP2"
                     /coded_by="XM_047447756.1:253..4824"
                     /db_xref="GeneID:23122"
                     /db_xref="HGNC:HGNC:17078"
                     /db_xref="MIM:605853"
ORIGIN      
        1 meprsmeyfc aqvqqkdvgg rlqvgqelll ylgapgaisd leedlgrlgk tvdaltgwvg
       61 ssnyrvslmg leilsafvdr lstrfksyva mvivalidrm gdakdkvrde aqtlilklmd
      121 qvappmyiwe qlasgfkhkn frsregvclc lietlnifga qplvisklip hlcilfgdsn
      181 sqvrdaaila iveiyrhvge kvrmdlykrg ipparlemif akfdevqssg gmilsvckdk
      241 sfddeesvdg nrpssaasaf kvpapktsgn pansarkpgs aggpkvggas keggagavde
      301 ddfikaftdv psiqiyssre leetlnkire ilsddkhdwd qranalkkir sllvagaaqy
      361 dcffqhlrll dgalklsakd lrsqvvreac itvahlstvl gnkfdhgaea ivptlfnlvp
      421 nsakvmatsg caairfiirh thvprlipli tsnctsksvp vrrrsfefld lllqewqths
      481 lerhaavlve tikkgihdad aearvearkt ymglrnhfpg eaetlynsle psyqkslqty
      541 lkssgsvasl pqsdrsssss qeslnrpfss kwstanpstv agrvsagssk asslpgslqr
      601 srsdidvnaa agakahhaag qsvrsgrlga galnagsyas ledtsdkldg tasedgrvra
      661 klsaplagmg nakadsrgrs rtkmvsqsqp gsrsgspgrv ltttalstvs sgvqrvlvns
      721 asaqkrskip rsqgcsreas psrlsvarss riprpsvsqg csreasress rdtspvrsfq
      781 plgpgygisq ssrlsssvsa mrvlntgsdv eeavadalkk parrryesyg mhsdddansd
      841 assacsersy ssrngsipty mrqtedvaev lnrcassnws erkegllglq nllknqrtls
      901 rvelkrlcei ftrmfadphg krvfsmflet lvdfiqvhkd dlqdwlfvll tqllkkmgad
      961 llgsvqakvq kaldvtresf pndlqfnilm rftvdqtqtp slktvkpalr dqlhsfwssk
     1021 vkvailkyie tlakqmdpgd finssetrla vsrvitwtte pkssdvrkaa qsvlislfel
     1081 ntpeftmllg alpktfqdga tkllhnhlrn tgngtqssmg spltrptprs panwssplts
     1141 ptntsqntls psafdydten mnsediyssl rgvteaiqnf sfrsqedmne plkrdskkdd
     1201 gdsmcggpgm sdpraggdat dssqtaldnk asllhsmpth ssprsrdynp ynysdsispf
     1261 nksalkeamf dddadqfpdd lsldhsdlva ellkelsnhn erveerkial yelmkltqee
     1321 sfsvwdehfk tillllletl gdkeptiral alkvlreilr hqparfknya eltvmktlea
     1381 hkdphkevvr saeeaasvla tsispeqcik vlcpiiqtad ypinlaaikm qtkviervsk
     1441 etlnlllpei mpgliqgydn sessvrkacv fclvavhavi gdelkphlsq ltgskmklln
     1501 lyikraqtgs ggadpttdvs gqs
//
LOCUS       XP_047272862             433 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 125 isoform X14 [Homo
            sapiens].
ACCESSION   XP_047272862
VERSION     XP_047272862.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416906.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..433
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..433
                     /product="coiled-coil domain-containing protein 125
                     isoform X14"
                     /calculated_mol_wt=49657
     CDS             1..433
                     /gene="CCDC125"
                     /gene_synonym="KENAE"
                     /coded_by="XM_047416906.1:235..1536"
                     /db_xref="GeneID:202243"
                     /db_xref="HGNC:HGNC:28924"
                     /db_xref="MIM:613781"
ORIGIN      
        1 mertlallhf rerekkemkr vfsipsiras kihslkcpef pitddkvale vemlktelea
       61 sqrqlrgkee alkilqsmai lgkatshtqa vlqktmeqnr slekeinalq weiefdhnrf
      121 knieeswiqk ydrlncenav lkenlkvkte eikmlksdna vlnqryleal amldikqqkm
      181 aqenmccdks gfaeasglel avlgaclchg pggnpcscar maastrklll qlkqekskee
      241 ayvmadafri afeqqlmrkn dqalqltqmd kmhkkatkwm nwkhlkedgf psprskktfg
      301 qrllgmlpse nsskrmedqd spqevlkmli dllndkeeal ahqrkvsyml araledkdta
      361 snenkeknpi kenfpfnnpw rktsefsvlg dpihssvcil nsvgcicsiq hsqidpnyrt
      421 lkrshslpss iif
//
LOCUS       XP_011542051             609 aa            linear   PRI 20-MAR-2023
DEFINITION  synphilin-1 isoform X9 [Homo sapiens].
ACCESSION   XP_011542051
VERSION     XP_011542051.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011543749.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..609
                     /product="synphilin-1 isoform X9"
                     /calculated_mol_wt=67201
     Region          34..127
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          62..94
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(65..66,69..71,73..74,78,85,94,96,98,102..103,
                     106..108,110..111,115,118,127,129,131,135..136,139..141,
                     143..144,148)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          96..127
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          152..195
                     /region_name="SNCAIP_SNCA_bd"
                     /note="Synphilin-1 alpha-Synuclein-binding domain;
                     pfam16700"
                     /db_xref="CDD:435527"
     CDS             1..609
                     /gene="SNCAIP"
                     /gene_synonym="Sph1; SYPH1"
                     /coded_by="XM_011543749.3:759..2588"
                     /db_xref="GeneID:9627"
                     /db_xref="HGNC:HGNC:11139"
                     /db_xref="MIM:603779"
ORIGIN      
        1 mkltlvmtyl iqshhsrrsq ncaedvirkt ktdqngqlec vrwmvsetea iaelscskdf
       61 pslihyagcy gqekillwll qfmqeqgisl devdqdgnsa vhvasqhgyl gciqtlveyg
      121 anvtmqnhag ekpsqsaerq ghtlcsrylv vvetcmslas qvvkltkqlk eqtvervtlq
      181 nqlqqfleaq ksegkslpss psspsspasr ksqwkspdad ddsvakskpg vqegiqvlgs
      241 lsassrarpk akdedsdkil rqllgkeise nvctqeklsl efqdaqassr nskkiplekr
      301 elklarlrql mqrslsesdt dsnnsedpkt tpvrkadrpr pqpivesves mdsaeslhlm
      361 ikkhtlasgg rrfpfsikas ksldghspsp tsessepdle sqypgsgsip pnqpsgdpqq
      421 pspdstaaqk vatspksalk spsskrrtsq nlklrvtfee pvvqmeqpsl elngekdkdk
      481 grtlqrtsts nesgdqlkrp fgafrsimet lsgnqnnnnn yqaanqlkts tlpltslgrk
      541 tdakgnpass askgknkaem ysscinlssn mlieehlcnd trhndinrkm kksysikhia
      601 epeskelfl
//
LOCUS       XP_047274038             604 aa            linear   PRI 20-MAR-2023
DEFINITION  heterogeneous nuclear ribonucleoprotein Q isoform X3 [Homo
            sapiens].
ACCESSION   XP_047274038
VERSION     XP_047274038.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418082.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..604
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..604
                     /product="heterogeneous nuclear ribonucleoprotein Q
                     isoform X3"
                     /calculated_mol_wt=67173
     Region          23..107
                     /region_name="NURR_hnRNPQ"
                     /note="NURR (N-terminal unit for RNA recognition) domain
                     found in heterogeneous nuclear ribonucleoprotein Q
                     (hnRNPQ) and similar proteins; cd21066"
                     /db_xref="CDD:410954"
     Region          103..592
                     /region_name="hnRNP-R-Q"
                     /note="heterogeneous nuclear ribonucleoprotein R, Q
                     family; TIGR01648"
                     /db_xref="CDD:273732"
     CDS             1..604
                     /gene="SYNCRIP"
                     /gene_synonym="GRY-RBP; GRYRBP; hnRNP-Q; HNRNPQ; HNRPQ1;
                     NSAP1; PP68"
                     /coded_by="XM_047418082.1:134..1948"
                     /db_xref="GeneID:10492"
                     /db_xref="HGNC:HGNC:16918"
                     /db_xref="MIM:616686"
ORIGIN      
        1 matehvngng teepmdttsa vihsenfqtl ldaglpqkva ekldeiyvag lvahsdlder
       61 aiealkefne dgalavlqqf kdsdlshvqn ksaflcgvmk tyrqrekqgt kvadsskgpd
      121 eakikaller tgytldvttg qrkyggpppd svysgqqpsv gteifvgkip rdlfedelvp
      181 lfekagpiwd lrlmmdpltg lnrgyafvtf ctkeaaqeav klynnheirs gkhigvcisv
      241 annrlfvgsi pksktkeqil eefskvtegl tdvilyhqpd dkkknrgfcf leyedhktaa
      301 qarrrlmsgk vkvwgnvgtv ewadpiedpd pevmakvkvl fvrnlantvt eeilekafsq
      361 fgklervkkl kdyafihfde rdgavkamee mngkdlegen ieivfakppd qkrkerkaqr
      421 qaaknqmydd yyyygpphmp pptrgrgrgg rggygyppdy ygyedyydyy gydyhnyrgg
      481 yedpyygyed fqvgargrgg rgargaapsr grgaapprgr agysqrggpg sargvrgarg
      541 gaqqqrgrgv rgarggrggn vggkrkadgy nqpdskrrqt nnqnwgsqpi aqqplqgkrg
      601 rgrs
//
LOCUS       XP_016866519             565 aa            linear   PRI 20-MAR-2023
DEFINITION  endoplasmic reticulum membrane-associated RNA degradation protein
            isoform X4 [Homo sapiens].
ACCESSION   XP_016866519
VERSION     XP_016866519.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017011030.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..565
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..565
                     /product="endoplasmic reticulum membrane-associated RNA
                     degradation protein isoform X4"
                     /calculated_mol_wt=64875
     Region          20..101
                     /region_name="DUF4209"
                     /note="Domain of unknown function (DUF4209); pfam13910"
                     /db_xref="CDD:433574"
     CDS             1..565
                     /gene="ERMARD"
                     /gene_synonym="C6orf70; dJ266L20.3; PVNH6"
                     /coded_by="XM_017011030.2:148..1845"
                     /db_xref="GeneID:55780"
                     /db_xref="HGNC:HGNC:21056"
                     /db_xref="MIM:615532"
ORIGIN      
        1 mhrgssgqvf qslmkltscl eralgdvfll igkecpfllr dllsseelaq vfsqsvmnvl
       61 kvfvgspcgl nlrnvlwhgf aspeeippky csmmilltag lgqllksylq ntkltlahrs
      121 fisltnledl ivfpdvtyev lsvleevmmk safilkimlp ywevalvkfk shrfadcail
      181 lltqletglr nvfatlnrcp krlltaesta lyttfdqila khlndgkinq lplflgepam
      241 eflwdflnhq egprirdhls hgeinlhefs kettnqllaf slvlllrfvd dcllsvfkek
      301 savellisla egyssrchpv fqlkkqvlsc eesirvwall pfpeeltrqa vrlednsetn
      361 achslitkmt delyhhmpen rcvlkdldrl ptetwpqllr elcstpvptl fcprivlevl
      421 vvlrsiseqc rrvssqvtva selrhrqwve rtlrsrqrqn ylrmwssirl lspvlslill
      481 lialelvnih avcgknahey qqylkfvksi lqytenlvay tsyeknkwne tinlthtall
      541 kmwtfsekkq mlihlakkst skvll
//
LOCUS       XP_047275257             549 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 76 isoform X3 [Homo sapiens].
ACCESSION   XP_047275257
VERSION     XP_047275257.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419301.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..549
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..549
                     /product="zinc finger protein 76 isoform X3"
                     /calculated_mol_wt=59472
     Region          <106..220
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          167..189
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <179..338
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          197..219
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          227..249
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(234,236,238,240..241,244..245,248,264,266,270..271,
                     274..275,278,294,296,298,300..301,304..305,308)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          257..279
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          287..309
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          317..335
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..549
                     /gene="ZNF76"
                     /gene_synonym="D6S229E; Zfp523; ZNF523"
                     /coded_by="XM_047419301.1:204..1853"
                     /db_xref="GeneID:7629"
                     /db_xref="HGNC:HGNC:13149"
                     /db_xref="MIM:194549"
ORIGIN      
        1 meslglhtvt lsdgttayvq qavkgeklle gqviqledgt tayihqvtvq kealsfedgq
       61 pvqledgsma yihrtpregy dpstleavql edgstayihh pvavpsesti lavqtevgle
      121 dlaaeddegf sadavvaleq yaskvlhdsq iprngkgqqv gdrafrcgyk gcgrlyttah
      181 hlkvheraht gdrpyrcdfp scgkafatgy glkshvrtht gerpfqcpfe gcgrsfttsn
      241 irkvhvrtht gerpytcpep hcgrgftsat nyknhvriht gekpyvctvp gcgkrfteys
      301 slykhhvvht hckpytcstc gktyrqtstl amhkrsahge leateeseqa lyeqqqleaa
      361 saaeespppk rpriaylsev keerddipaq vamvteedga pqvalitqdg aqqvslsped
      421 lqalgsaism vtqhgsttlt ipspdadlat sgthtvtmvs adgtqtqpvt iitsgavvae
      481 dssvaslrhq qvallatang thiavqdnsd gsppvvqalh hfvslflhle mkeadvddhh
      541 gslqpvlpp
//
LOCUS       XP_024302390             236 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 225B isoform X2 [Homo sapiens].
ACCESSION   XP_024302390
VERSION     XP_024302390.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024446622.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..236
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..236
                     /product="transmembrane protein 225B isoform X2"
                     /calculated_mol_wt=26609
     CDS             1..236
                     /gene="TMEM225B"
                     /gene_synonym="GS1-259H13.2"
                     /coded_by="XM_024446622.2:231..941"
                     /db_xref="GeneID:100289187"
                     /db_xref="HGNC:HGNC:53075"
ORIGIN      
        1 mklrqdqpal thhgvmltle dkdmkgfswa ivpaltslgy liilvvsifp fwvrltnees
       61 hevffsglfe ncfnakcwkp rplsiyiilg rvfllsavfl afvttfimmp faseffprtw
      121 kqnfvlacis fftgacafla lvlhaleika lrmklgplqf svlwpyyvlg fgiflfivag
      181 ticliqemvc pcwhllstsq smeedhgsly ldnleslgge pssvqketqv taetvi
//
LOCUS       XP_047278271             193 aa            linear   PRI 20-MAR-2023
DEFINITION  neurocalcin-delta isoform X1 [Homo sapiens].
ACCESSION   XP_047278271
VERSION     XP_047278271.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422315.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..193
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..193
                     /product="neurocalcin-delta isoform X1"
                     /calculated_mol_wt=22114
     Region          14..179
                     /region_name="FRQ1"
                     /note="Ca2+-binding protein, EF-hand superfamily [Signal
                     transduction mechanisms]; COG5126"
                     /db_xref="CDD:227455"
     CDS             1..193
                     /gene="NCALD"
                     /coded_by="XM_047422315.1:548..1129"
                     /db_xref="GeneID:83988"
                     /db_xref="HGNC:HGNC:7655"
                     /db_xref="MIM:606722"
ORIGIN      
        1 mgkqnsklrp evmqdllest dfteheiqew ykgflrdcps ghlsmeefkk iygnffpygd
       61 askfaehvfr tfdangdgti dfrefiials vtsrgkleqk lkwafsmydl dgngyiskae
      121 mleivqaiyk mvssvmkmpe destpekrte kifrqmdtnr dgklsleefi rgaksdpsiv
      181 rllqcdpssa gqf
//
LOCUS       XP_016870328            1405 aa            linear   PRI 20-MAR-2023
DEFINITION  centlein isoform X1 [Homo sapiens].
ACCESSION   XP_016870328
VERSION     XP_016870328.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014839.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 29% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1405
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1405
                     /product="centlein isoform X1"
                     /calculated_mol_wt=161411
     Region          <148..>792
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          <529..1312
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1405
                     /gene="CNTLN"
                     /gene_synonym="bA340N12.1; C9orf101; C9orf39"
                     /coded_by="XM_017014839.2:27..4244"
                     /db_xref="GeneID:54875"
                     /db_xref="HGNC:HGNC:23432"
                     /db_xref="MIM:611870"
ORIGIN      
        1 maarsppsph pspparqlgp rsprvgrgae vhamrseasg fagaarevva desdkiwvge
       61 egsggrrgpg gaapahapll sapmgsrrle gisveeamvt rtqlleeels slkeelalcq
      121 adkefvwslw krlqvtnpdl tqvvslvver ekqkseakdr kvleilqvkd akiqefeqre
      181 svlkqeindl vkrkiavdee naflrkefsd lekkfkdksq eikdtkecvq nkeeqnrlvi
      241 knleeenkkl strctdllnd leklrkqeah lrkekystda kiktfednli earkevevsq
      301 skynalslql snkqteliqk dmditlvrke lqelqnlykq nsthtaqqae liqqlqvlnm
      361 dtqkvlrnqe dvhtaesisy qklynelhic fettksneam lrqsvtnlqd qllqkeqena
      421 klkeklqesq gaplplpqes dpdysaqvph rpslssletl mvsqkseiey lqeklkiane
      481 klsenisank gfsrksimts aegkhkeppv krsrslspks sftdseelqk lrkaerkien
      541 lekalqlksq endelrdahe krkerlqmlq tnyravkeql kqweegsgmt eirkikradp
      601 qqlrqedsda vwnelayfkr enqelmiqkm nleeeldelk vhisidkaai qelnrcvaer
      661 reeqlfrsge ddevkrstpe kngkemleqt lqkvtelenr lksfekrsrk lkegnkklmk
      721 endflksllk qqqedtetre keleqiikgs kdvekentel qvkiselete vtslrrqvae
      781 analrnenee linpmekshq sadraksema tmkvrsgryd ckttmtkvkf kaakkncsvg
      841 rhhtvlnhsi kvmsnvfenl skdgwedvse sssdseaqts qtlgtiivet sqkisptedg
      901 kdqkesdpte dsqtqgkeiv qtylnidgkt pkdyfhdkna kkptfqkknc kmqksshtav
      961 ptrvnrekyk nitaqksssn iillreriis lqqqnsvlqn akktaelsvk eykevnekll
     1021 hqqqvsdqrf qtsrqtikkl nldlaglrke kedllkkles sseitslaee nsqvtfpriq
     1081 vtslspsrsm dlemkqlqyk lknatneltk qssnvktlkf ellakeehik emhekisrme
     1141 rditmkrhli edlkfrqkvn lesnksfsem lqnldkkvkt lteecsnkkv sidslkqrln
     1201 vavkeksqye qmyqkskeel ekkdlkltll vsrisetesa maeietaask qlqelalqse
     1261 qvlegaqktl llanekveef ttfvkalake lqndvhvvrr qirelkkmkk nrdacktsth
     1321 kaqtlaasil nisrsdleei ldtedqveie ktkidaendk ewmlyiqkll egqslalspr
     1381 lkcngaivah qnlrlpdsss sasas
//
LOCUS       XP_054185053            1485 aa            linear   PRI 20-MAR-2023
DEFINITION  multidrug resistance-associated protein 1 isoform X11 [Homo
            sapiens].
ACCESSION   XP_054185053
VERSION     XP_054185053.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329078.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187607.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1485
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.12-12.3"
     Protein         1..1485
                     /product="multidrug resistance-associated protein 1
                     isoform X11"
                     /calculated_mol_wt=166332
     CDS             1..1485
                     /gene="ABCC1"
                     /gene_synonym="ABC29; ABCC; DFNA77; GS-X; MRP; MRP1"
                     /coded_by="XM_054329078.1:137..4594"
                     /db_xref="GeneID:4363"
                     /db_xref="HGNC:HGNC:51"
                     /db_xref="MIM:158343"
ORIGIN      
        1 malrgfcsad gsdplwdwnv twntsnpdft kcfqntvlvw vpcfylwacf pfyflylsrh
       61 drgyiqmtpl nktktalgfl lwivcwadlf ysfwersrgi flapvflvsp tllgitmdaq
      121 vdlfrditfy vyfsllliql vlscfsdrsp lfsetihdpn pcpessasfl sritfwwitg
      181 livrgyrqpl egsdlwslnk edtseqvvpv lvknwkkeca ktrkqpvkvv ysskdpaqpk
      241 esskvdanee vealivkspq kewnpslfkv lyktfgpyfl msfffkaihd lmmfsgpqil
      301 kllikfvndt kapdwqgyfy tvllfvtacl qtlvlhqyfh icfvsgmrik tavigavyrk
      361 alvitnsark sstvgeivnl msvdaqrfmd latyinmiws aplqvilaly llwlnlgpsv
      421 lagvavmvlm vpvnavmamk tktyqvahmk skdnriklmn eilngikvlk lyawelafkd
      481 kvlairqeel kvlkksayls avgtftwvct pflvalctfa vyvtidenni ldaqtafvsl
      541 alfnilrfpl nilpmvissi vqasvslkrl riflsheele pdsierrpvk dgggtnsitv
      601 rnatftwars dpptlngitf sipegalvav vgqvgcgkss llsallaemd kveghvaikg
      661 svayvpqqaw iqndslreni lfgcqleepy yrsviqacal lpdleilpsg drteigekgv
      721 nlsggqkqrv slaravysna diylfddpls avdahvgkhi fenvigpkgm lknktrilvt
      781 hsmsylpqvd viivmsggki semgsyqell ardgafaefl rtyasteqeq daeengvtgv
      841 sgpgkeakqm engmlvtdsa gkqlqrqlss sssysgdisr hhnstaelqk aeakkeetwk
      901 lmeadkaqtg qvklsvywdy mkaiglfisf lsiflfmcnh vsalasnywl slwtddpivn
      961 gtqehtkvrl svygalgisq giavfgysma vsiggilasr clhvdllhsi lrspmsffer
     1021 tpsgnlvnrf skeldtvdsm ipevikmfmg slfnvigaci villatpiaa iiipplgliy
     1081 ffvqrfyvas srqlkrlesv srspvyshfn etllgvsvir afeeqerfih qsdlkvdenq
     1141 kayypsivan rwlavrlecv gncivlfaal favisrhsls aglvglsvsy slqvttylnw
     1201 lvrmssemet nivaverlke ysetekeapw qiqetappss wpqvgrvefr nyclryredl
     1261 dfvlrhinvt inggekvgiv grtgagkssl tlglfrines aegeiiidgi niakiglhdl
     1321 rfkitiipqd pvlfsgslrm nldpfsqysd eevwtslela hlkdfvsalp dkldhecaeg
     1381 genlsvgqrq lvclarallr ktkilvldea taavdletdd liqstirtqf edctvltiah
     1441 rlntimdytr vivldkgeiq eygapsdllq qrglfysmak daglv
//
LOCUS       XP_054186070             700 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 27 isoform X6 [Homo sapiens].
ACCESSION   XP_054186070
VERSION     XP_054186070.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330095.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187663.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..700
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31-21.32"
     Protein         1..700
                     /product="rho GTPase-activating protein 27 isoform X6"
                     /calculated_mol_wt=78291
     CDS             1..700
                     /gene="ARHGAP27"
                     /gene_synonym="CAMGAP1; PP905; SH3D20; SH3P20"
                     /coded_by="XM_054330095.1:99..2201"
                     /db_xref="GeneID:201176"
                     /db_xref="HGNC:HGNC:31813"
                     /db_xref="MIM:610591"
ORIGIN      
        1 mvdiiakvtr rqsralpaqv ddppepvyan ierqpratsp gaaaaplpsp vwethtdagt
       61 grpyyynpdt gvttwespfe aaegaaspat spasvdshvs letewgqywd eesrrvffyn
      121 pltgetawed eaenepeeel emqpglspgs pgdprpptpe tdypesltsy peedyspvgs
      181 fgepgptspl ttppgwschv sqdkqmlytn hftqeqwvrl edphgkpyfy npedssvrwe
      241 lpqvpvpapr sihkssqdgd tpaqasppee ktktldkagv lhrtktadkg krlrkkhwsa
      301 swtvleggvl tffkdsktsa agglrqpskf stpeytvelr gatlswapkd kssrknvlel
      361 rsrdgseyli qhdseaiist whkaiaqgiq elgsmqlrev nvlrltgggp aagsrprlse
      421 amgiqsaelp peesessrvd fgsserlgsw qekeedarpn aaapalgpvg lesdlskvrh
      481 klrkflqrrp tlqslrekgy ikdqvfgcal aalcerersr vprfvqqcir aveargldid
      541 glyrisgnla tiqklrykvd hderldlddg rwedvhvitg alklffrelp eplfpfshfr
      601 qfiaaiklqd qarrsrcvrd lvrslpapnh dtlrmlfqhl crviehgeqn rmsvqsvaiv
      661 fgptllrpev eetsmpmtmv fqnqvvelil qqcadifpph
//
LOCUS       XP_054186318             126 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase PPP1R11 isoform X1 [Homo sapiens].
ACCESSION   XP_054186318
VERSION     XP_054186318.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330343.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167245.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..126
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..126
                     /product="E3 ubiquitin-protein ligase PPP1R11 isoform X1"
                     /calculated_mol_wt=13821
     CDS             1..126
                     /gene="PPP1R11"
                     /gene_synonym="CFAP255; HCG-V; HCGV; IPP3; TCTE5; TCTEX5"
                     /coded_by="XM_054330343.1:403..783"
                     /db_xref="GeneID:6992"
                     /db_xref="HGNC:HGNC:9285"
                     /db_xref="MIM:606670"
ORIGIN      
        1 maeagaglse tvtettvtvt tepenrslti klrkrkpekk vewtsdtvdn ehmgrrsskc
       61 cciyekpraf gesstesdee eeegcghthc vrghrkgrrr atlgptpttp pqppdpsqpp
      121 pgpmqh
//
LOCUS       XP_054186968            1395 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase EHMT2 isoform X1 [Homo sapiens].
ACCESSION   XP_054186968
VERSION     XP_054186968.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330993.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 10% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1395
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1395
                     /product="histone-lysine N-methyltransferase EHMT2 isoform
                     X1"
                     /calculated_mol_wt=151143
     CDS             1..1395
                     /gene="EHMT2"
                     /gene_synonym="BAT8; C6orf30; G9A; GAT8; KMT1C; NG36"
                     /coded_by="XM_054330993.1:134..4321"
                     /db_xref="GeneID:10919"
                     /db_xref="HGNC:HGNC:14129"
                     /db_xref="MIM:604599"
ORIGIN      
        1 mlrgcngagg pgrdlqqsrg papgadegtr vwevggvgte arvqppaape watgagapga
       61 rvrgtrgrpp gwgaagaggv gargprglgd kggaaraagr rgrgrgaeap pppppllsap
      121 emrglprgrg lmrargrgra appgsrgrgr ggphrgrgrp rsllslpraq aswtpqlstg
      181 ltsppvpclp sqgeapaemg allleketrg atervhgslg dtprseetlp katpdslepa
      241 gpsspasvtv tvgdegadtp vgatpligde senlegdgdl rggrillgha tksfpsspsk
      301 ggscpsrakm smtgagkspp svqslamrll smpgaqgaaa agsepppatt spegqpkvhr
      361 arktmskpgn gqppvpekrp peiqhfrmsd dvhslgkvts dlakrrklns ggglseelgs
      421 arrsgevtlt kgdpgsleew etvvgddfsl yydsysvder vdsdskseve alteqlseee
      481 eeeeeeeeee eeeeeeeeee edeesgnqsd rsgssgrrka kkkwrkdspw vkpsrkrrkr
      541 epprakeprg vngvgssgps eymevplgsl elpsegtlsp nhagvsndts sletergfee
      601 lplcscrmea pkidrisera ghkcmatesv dgelsgcnaa ilkretmrps srvalmvlce
      661 thrarmvkhh ccpgcgyfct agtflechpd frvahrfhka cvsqlngmvf cphcgedase
      721 aqevtiprgd gvtppagtaa pappplsqdv pgradtsqps armrghgepr rppcdpladt
      781 idssgpsltl pnggclsavg lplgpgreal ekalviqese rrkklrfhpr qlylsvkqge
      841 lqkvilmlld nldpnfqsdq qskrtplhaa aqkgsveich vllqaganin avdkqqrtpl
      901 meavvnnhle varymvqrgg cvyskeedgs tclhhaakig nlemvsllls tgqvdvnaqd
      961 sggwtpiiwa aehkhievir mlltrgadvt ltdnvserlv eeeniclhwa sftgsaaiae
     1021 vllnarcdlh avnyhgdtpl hiaaresyhd cvllflsrga npelrnkegd tawdltpers
     1081 dvwfalqlnr klrlgvgnra irtekiicrd vargyenvpi pcvngvdgep cpedykyise
     1141 ncetstmnid rnithlqhct cvddcsssnc lcgqlsircw ydkdgrllqe fnkiepplif
     1201 ecnqacscwr ncknrvvqsg ikvrlqlyrt akmgwgvral qtipqgtfic eyvgelisda
     1261 eadvreddsy lfdldnkdge vycidaryyg nisrfinhlc dpniipvrvf mlhqdlrfpr
     1321 iaffssrdir tgeelgfdyg drfwdiksky ftcqcgsekc khsaeaiale qsrlarldph
     1381 pellpelgsl ppvnt
//
LOCUS       XP_054188534             862 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 33 isoform X9 [Homo sapiens].
ACCESSION   XP_054188534
VERSION     XP_054188534.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332559.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_021160016.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..862
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     Protein         1..862
                     /product="coiled-coil domain-containing protein 33 isoform
                     X9"
                     /calculated_mol_wt=96443
     CDS             1..862
                     /gene="CCDC33"
                     /gene_synonym="CT61; HP11097"
                     /coded_by="XM_054332559.1:623..3211"
                     /db_xref="GeneID:80125"
                     /db_xref="HGNC:HGNC:26552"
                     /db_xref="MIM:618525"
ORIGIN      
        1 mafrgpepwv sasllrqrlk aeektldlef evlsvgfnea gryalrlsae nplqvgsgag
       61 vqlqvndgdp fpacsaitdv ieqqepgqsl tltrskfift lpkgfckndg qhdaqlhvea
      121 lrldeplgra aqrvgeaifp iyprpdqprm npkaqdhedl yrycgnlall rastdptarh
      181 cgslaysvaf hvhrgpqppv sdsppragqp elmspcpepq lpilqntedp eepliasqst
      241 epeighlsps kketimvtlh gatnlpackd gsepwpyvvv kstseeknnq sskavtsvts
      301 eptrapiwgd tvnveiqaed agqedvilkv vdnrkkqell sykipikylr vfhpyhfelv
      361 kptesgkade ataktqlyat vvrkssfipr yigcnhmale iflrgvnepl annpnpivvi
      421 arvvpnykef kvsqanrdla svglpitpls fpipsmmnfd vprvsqngcp qlskpggppe
      481 qplwnqsflf qgrdgatsfs edtalvleyy sstsmkgsqp wtlnqplgis vlplksrlyq
      541 kmltgkgldg lhverlpimd tslktindea ptvalsfqll sserpenflt pnnskalptl
      601 dpkildkklr tiqeswskdt vsstmdlsts tpreaeeepl vpemshdtem nnyrramqkm
      661 aedilslrrq asilegenri lrsrlaqqee eegqgkasea qntvsmkqkl llseldmkkl
      721 rdrvqhlqne lirkndreke llllyqaqqp qaallkqyqg klqkmkalee tvrhqekasl
      781 csqplafpwv lwertcrlnf trccwqktrs cgrswirtat srppsfcsnr pcrisslvlq
      841 tsstswpswn tlragscpwk as
//
LOCUS       XP_054193327             858 aa            linear   PRI 20-MAR-2023
DEFINITION  volume-regulated anion channel subunit LRRC8D isoform X1 [Homo
            sapiens].
ACCESSION   XP_054193327
VERSION     XP_054193327.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337352.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..858
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..858
                     /product="volume-regulated anion channel subunit LRRC8D
                     isoform X1"
                     /calculated_mol_wt=98071
     CDS             1..858
                     /gene="LRRC8D"
                     /gene_synonym="HsLRRC8D; LRRC5"
                     /coded_by="XM_054337352.1:608..3184"
                     /db_xref="GeneID:55144"
                     /db_xref="HGNC:HGNC:16992"
                     /db_xref="MIM:612890"
ORIGIN      
        1 mftlaevasl ndiqptyril kpwwdvfmdy lavvmlmvai fagtmqltkd qvvclpvlps
       61 pvnskahtpp gnaevttnip kmeaatnqdq dgrttndisf gtsavtpdip lratyprtdf
      121 alpnqeakke kkdptgrktn ldfqqyvfin qmcyhlalpw yskyfpylal ihtiilmvss
      181 nfwfkypktc skvehfvsil gkcfespwtt kalsetaced seenkqritg aqtlpkhvst
      241 ssdegspsas tpminktgfk fsaekpviev psmtildkkd geqakalfek vrkfrahved
      301 sdliyklyvv qtviktakfi filcytanfv naisfehvck pkvehligye vfecthnmay
      361 mlkkllisyi siicvygfic lytlfwlfri plkeysfekv reessfsdip dvkndfafll
      421 hmvdqydqly skrfgvflse vsenklreis lnhewtfekl rqhisrnaqd kqelhlfmls
      481 gvpdavfdlt dldvlkleli peakipakis qmtnlqelhl chcpakveqt afsflrdhlr
      541 clhvkftdva eipawvyllk nlrelylign lnsennkmig leslrelrhl kilhvksnlt
      601 kvpsnitdva phltklvihn dgtkllvlns lkkmmnvael elqnceleri phaifslsnl
      661 qeldlksnni rtieeiisfq hlkrltclkl whnkivtipp sithvknles lyfsnnkles
      721 lpvavfslqk lrcldvsynn ismipieigl lqnlqhlhit gnkvdilpkq lfkciklrtl
      781 nlgqncitsl pekvgqlsql tqlelkgncl drlpaqlgqc rmlkksglvv edhlfdtlpl
      841 evkealnqdi nipfangi
//
LOCUS       XP_054195226            1741 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase MRCK alpha isoform X11 [Homo
            sapiens].
ACCESSION   XP_054195226
VERSION     XP_054195226.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339251.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 27% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1741
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1741
                     /product="serine/threonine-protein kinase MRCK alpha
                     isoform X11"
                     /calculated_mol_wt=197703
     CDS             1..1741
                     /gene="CDC42BPA"
                     /gene_synonym="MRCK; MRCKA; PK428"
                     /coded_by="XM_054339251.1:1533..6758"
                     /db_xref="GeneID:8476"
                     /db_xref="HGNC:HGNC:1737"
                     /db_xref="MIM:603412"
ORIGIN      
        1 mkilnkweml kraetacfre erdvlvngdn kwittlhyaf qddnnlylvm dyyvggdllt
       61 llskfedrlp edmarfylae mviaidsvhq lhyvhrdikp dnilmdmngh irladfgscl
      121 klmedgtvqs svavgtpdyi speilqamed gkgrygpecd wwslgvcmye mlygetpfya
      181 eslvetygki mnhkerfqfp aqvtdvsena kdlirrlics rehrlgqngi edfkkhpffs
      241 gidwdnirnc eapyipevss ptdtsnfdvd ddclknsetm pppthtafsg hhlpfvgfty
      301 tsscvlsdrs clrvtagpts ldldvnvqrt ldnnlateay errikrleqe klelsrklqe
      361 stqtvqalqy stvdgpltas kdleiknlke eieklrkqvt esshleqqle eanavrqeld
      421 dafrqikaye kqiktlqqer edlnkelvqa serlknqske lkdahcqrkl amqefmeine
      481 rltelhtqkq klarhvrdke eevdlvmqkv eslrqelrrt erakkelevh tealaaeask
      541 drklreqseh yskqlenele glkqkqisys pgvcsiehqq eitklktdle kksifyeeel
      601 skregihane iknlkkelhd segqqlalnk eimilkdkle ktrresqser eefesefkqq
      661 yerekvllte enkkltseld klttlyenls ihnqqleeev kdladkkesv ahweaqitei
      721 iqwvsdekda rgylqalask mteelealrn sslgtratdm pwkmrrfakl dmsarlelqs
      781 aldaeirakq aiqeelnkvk asniiteckl kdsekknlel lseieqlikd teelrsekgi
      841 ehqdsqhsfl aflntptdal dqfedsfsss ssslidfldd rspsctpask grrtdpvent
      901 yvwnpsvkfh iqsrstspst sseaepvktv dstplsvhtp tlrkkgcpgs tgfppkrkth
      961 qffvksfttp tkchqctslm vglirqgcsc evcgfschit cvnkapttcp vppeqtkgpl
     1021 gidpqkgigt ayeghvripk pagvkkgwqr alaivcdfkl flydiaegka sqpsvvisqv
     1081 idmrdeefsv ssvlasdvih asrkdipcif rvtasqlsas nnkcsilmla dteneknkwv
     1141 gvlselhkil kknkfrdrsv yvpkeaydst lplikttqaa aiidherial gneeglfvvh
     1201 vtkdeiirvg dnkkihqiel ipndqlvavi sgrnrhvrlf pmsaldgret dfyklsetkg
     1261 cqtvtsgkvr hgaltclcva mkrqvlcyel fqsktrhrkf keiqvpynvq wmaifseqlc
     1321 vgfqsgflry plngegnpys mlhsndhtls fiahqpmdai caveisskey llcfnsigiy
     1381 tdcqgrrsrq qelmwpanps sccynapyls vysenavdif dvnsmewiqt lplkkvrpln
     1441 negslnllgl etirliyfkn kmaegdelvv petsdnsrkq mvrninnkrr ysfrvpeeer
     1501 mqqrremlrd pemrnklisn ptnfnhiahm gpgdgiqilk dlpmpgfpyp sphhhsglis
     1561 spinfehiyh mtvnsaekfl spdsinpeys pslrsvpgtp sfmtlrnprp qesrtvfsgs
     1621 vsipsitksr pepgrsmsas sglsarssaq ngsalkrefs ggsysakrqp mpspsegsls
     1681 sggmdqgsda pardfdgeds dsprhstasn ssnlssppsp asprktksls lestdrgswd
     1741 p
//
LOCUS       XP_054195837            1558 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 170 kDa isoform X9 [Homo sapiens].
ACCESSION   XP_054195837
VERSION     XP_054195837.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339862.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1558
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1558
                     /product="centrosomal protein of 170 kDa isoform X9"
                     /calculated_mol_wt=172029
     CDS             1..1558
                     /gene="CEP170"
                     /gene_synonym="FAM68A; KAB; KIAA0470"
                     /coded_by="XM_054339862.1:284..4960"
                     /db_xref="GeneID:9859"
                     /db_xref="HGNC:HGNC:28920"
                     /db_xref="MIM:613023"
ORIGIN      
        1 msltswflvs sggtrhrlpr emifvgrddc elmlqsrsvd kqhavinyda stdehlvkdl
       61 gslngtfvnd vripeqtyit lkledklrfg ydtnlftvvq gemrvpeeal khekftiqlq
      121 lsqkssesel sksasaksid skvadaatev qhkttealks eekamdisam prgtplygqp
      181 swwgddevde krafktngkp eeknheagts gcsidakqve eqsaaaneev lfpfcrepsy
      241 feiptkefqq psqitestih eiptkdtpss hitgaghasf tiefddstpg kvtirdhvtk
      301 ftsdqrhksk ksspgtqdll giqtgmmape nkvadwlaqn nppqmlwert eedsksiksd
      361 vpvylkrlkg nkhddgtqsd senagahrrc skratleehl rrhhsehkkl qkvqatekhq
      421 dqavtssahh rgghgvphgk llkqkseeps vsipflqtal lrssgslghr psqemdkmlk
      481 nqatsatsek dndddqsdkg tytielenpn seevearkmi dkvfgvddnq dynrpvinek
      541 hkdlikdwal ssaaavmeer kplttsgfhh seegtsssgs krwvsqwasl aanhtrhdqe
      601 erimefsapl pleneteise sgmtvrstgs atslasqger rrrtlpqlpn eeksleshra
      661 kvvtqrseig ekqdtelqek etptqvyqkd kqdadrplsk mnravngetl ktggdnktll
      721 hlgssapgke ksetdketsl vkqtlaklqq qeqreeaqwt ptklssknvs gqtdkcreet
      781 fkqesqppek nsghstskgd rvaqseskrr kaeeilksqt pkggdkkess kslvrqgsft
      841 iekpspnipi eliphinkqt sstpsslalt sasrirerse sldpdssmdt tlilkdteav
      901 mafleaklre dnktdegpdt psynrdnsis pesdvdtast islvtgeter kstqkrksft
      961 slykdrcstg spskdvtkss ssgarekmek ktksrstdvg sradgrkfvq ssgrirqpsv
     1021 dltdddqtss vphsaisdim ssdqetysck phgrtpltsa dehvhskleg skvtksktsp
     1081 vvsgssskst tlprprptrt sllrrarlge asdseladad kasvasevst tsstskpptg
     1141 rrnisridll aqprrtrlgs lsarsdseat isrssassrt aeaiirsgar lvpsdkfspr
     1201 iransisrls dskvksmtsa hgsasalktt rlqsagsavp tsssfkhrik eqedyirdwt
     1261 ahreeiaris qdlaliarei ndvageidsv tssgtapstt vstaattpgs aidtreevgd
     1321 lhgemhklvd rvfdeslnfr kipplvhskt pegnngrsgd prpqaaeppd hltitrrrtw
     1381 srdevmgdnl llssvfqfsk kirqsidkta gkirilfkdk drnwddiesk lraesevpiv
     1441 ktssmeissi lqelkrvekq lqainamidp dgtlealnnm gfpsamlpsp pkqksspvnn
     1501 hhspgqtptl gqpearalhp aavsaaaefe naeseadfsi hfnrfnpdge eedvtvqe
//
LOCUS       XP_054222325            1199 aa            linear   PRI 20-MAR-2023
DEFINITION  sickle tail protein homolog isoform X29 [Homo sapiens].
ACCESSION   XP_054222325
VERSION     XP_054222325.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366350.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1199
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1199
                     /product="sickle tail protein homolog isoform X29"
                     /calculated_mol_wt=130389
     CDS             1..1199
                     /gene="KIAA1217"
                     /gene_synonym="ETL4; SKT"
                     /coded_by="XM_054366350.1:12790..16389"
                     /db_xref="GeneID:56243"
                     /db_xref="HGNC:HGNC:25428"
                     /db_xref="MIM:617367"
ORIGIN      
        1 msegdaptpf srgsrtrasl pvvrstnqtk erslgvlylq ygdetkqlrm pneitsadti
       61 ralfvsafpq qltmkmlesp svaiyikdes rnvyyelndv rniqdrsllk vynkdpahaf
      121 nhtpktmngd mrmqrelvya rgdgpgaprp gstahpphai pnsppstpvp hsmppspsri
      181 pyggtrsmvv pgnatiprdr isslpvsrpi spspsailer rdvkpdedms gkniamyrne
      241 gfyadpylyh egrmsiassh gghpldvpdh iiayhrtair sasaycnpsm qaemhmeqsl
      301 yrqksrkypd shlptlgskt ppasphrvsd lrmidmhahy nahgpphtmq pdraspsrqa
      361 fkkepgtlvy iekprsaagl sslvdlgppl mekqvfayst atipkdrets ekmmkttanr
      421 nhtdsagtph vsggkmlsal estvppsqpp pvgtsaihms llemrrsvae lrlqlqqmrq
      481 lqlqnqellr ammkkaelei sgkvmetmkr ledpvqrqrv lveqerqkyl heeekivkkl
      541 celedfvedl kkdstaasrl vtlkdvedga fllrqvgeav atlkgefptl qnkmrailri
      601 eveavrflke ephkldsllk rvrsmtdvlt mlrrhvtdgl lkgtdaaqaa qymamekata
      661 aevlksqeea ahtsgqpfhs tgapgdakse vvplsgmmvr htqsspvviq psqhsvalln
      721 paqnlphvas spavpqeats tlqmsqapqs pqipmngsam qslfieeihs vsaknravsi
      781 ekaekkweek rqnldhyngk efeklleeaq animksipnl emppatgplp rgdapvdkve
      841 lsedspnseq dleklggksp ppppppprrs ylpgsglttt rsgdvvytgr kenitakass
      901 edagpspqtr atkypaeepa sawtpspppv ttssskdeee eeeegdkima elqafqkcsf
      961 mdvnsnshae psradshvkd trsgatvppk ekkgssgapq tsrmpvpmsa knrpgtldkp
     1021 gkqsklqdpr qyrqangsak ksggdfkpts pslpaskipa lspssgksss lpsssgdssn
     1081 lpnppatkps iasnplspqt gppahsasli psvsngslkf qslthtgkgh hlsfspqsqn
     1141 grappplsfs ssppspassv slnqgakgtr tihtpsltsy kaqngssska tpstakets
//
LOCUS       XP_054223255            1483 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 518A isoform X1 [Homo sapiens].
ACCESSION   XP_054223255
VERSION     XP_054223255.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367280.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1483
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1483
                     /product="zinc finger protein 518A isoform X1"
                     /calculated_mol_wt=166651
     CDS             1..1483
                     /gene="ZNF518A"
                     /gene_synonym="ZNF518"
                     /coded_by="XM_054367280.1:676..5127"
                     /db_xref="GeneID:9849"
                     /db_xref="HGNC:HGNC:29009"
                     /db_xref="MIM:617733"
ORIGIN      
        1 mpseqkqlfc dekqttlkkd ydvkneivdr sapkpkisgs ihyalknvki dlpkinipne
       61 vllkhevdky rklfqskqqt arksisiktv scveectllh kseraeeegv kmsakilnfs
      121 clkcrdntry spndlqkhfq mwhhgelpsy pcemcnfsan dfqvfkqhrr thrstlvkcd
      181 icnnesvytl lnltkhftst hcvngnfqce kckfstqdvg tfvqhihrhn eihykcgkch
      241 hvcftkgelq khlhihsgtf pftcqycsyg atrrehlvrh vitlhkehly akeklekdky
      301 ekrmaktsag lklilkryki gasrktfwkr kkinsgsdrs iekntqvlkk mnktqtksed
      361 qshvvqehls eekderlhce nndkapeses ekptplstgq gnraeegpna ssgfmktavl
      421 gptlknvmmk nnklavspny natfmgfkmm dgkqhivlkl vpikqnvcsp gsqsgaakdg
      481 tanlqpqtld tngfltgvtt elndtvymka atpfscsssi lsgkasseke mtlisqrnnm
      541 lqtmdyeksv sslsatselv tasvnlttkf etrdnvdfwg nhltqshpev lgttikspdk
      601 vncvakpnay nsgdmhnyci nygncelpve ssnqgslpfh nyskvnnsnk rrrfsgtavy
      661 enpqressss ktvvqqpise sflslvrqes skpdsllasi sllndkdgtl kakseieeqy
      721 vlekgqnidg qnlysnenqn lecatekskw edfsnvdspm mpritsvfsl qsqqaseflp
      781 pevnqllqdv lkikpdvkqd ssntpnkglp lhcdqsfqkh eregkivess kdfkvqgifp
      841 vppgsvginv ptndlnlkfg kekqvssipq dvrdsekmpr isgfgtllkt qsdaiitqql
      901 vkdklrattq nlgsfymqsp llnseqkkti ivqtskgfli plnitnkpgl pvipgnalpl
      961 vnsqgipasl fvnkkpgmvl tlnngklegv savktegapa rgtvtkepck tpilkvepnn
     1021 ncltpglcss igsclsmkss sentlplkgp yilkptssvk avlipnmlse qqstklnisd
     1081 svkqqneifp kpplytflpd gkqavflkcv mpnktellkp klvqnstyqn iqpkkpegtp
     1141 qrillkifnp vlnvtaannl svsnsasslq kdnvpsnqii ggeqkepesr dalpfllddl
     1201 mpaneivits tatcpessee picvsdcses rvlrcktncr iernfnrkkt skkifsktkt
     1261 hgskdsetaf vsrnrnckrk crdsyqeppr rkatlhrkck ekakpedvre tfgfsrprls
     1321 kdsirtlrlf pfsskqlvkc prrnqpvvvl nhpdadapev vsvmktiakf nghvlkvsls
     1381 krtinallkp vcynppktty ddfskrhktf kpvssvkerf vlkltlkkts knnyqivktt
     1441 senilkakfn cwfcgrvfdn qdtwaghgqr hlmeatrdwn mle
//
LOCUS       XP_054225245             854 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 6 regulatory subunit 3 isoform
            X7 [Homo sapiens].
ACCESSION   XP_054225245
VERSION     XP_054225245.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369270.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..854
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..854
                     /product="serine/threonine-protein phosphatase 6
                     regulatory subunit 3 isoform X7"
                     /calculated_mol_wt=95301
     CDS             1..854
                     /gene="PPP6R3"
                     /gene_synonym="C11orf23; PP6R3; SAP190; SAPL; SAPLa;
                     SAPS3"
                     /coded_by="XM_054369270.1:361..2925"
                     /db_xref="GeneID:55291"
                     /db_xref="HGNC:HGNC:1173"
                     /db_xref="MIM:610879"
ORIGIN      
        1 mfwkfdlhss shidtllere dvtlkelmde edvlqeckaq nrkliefllk aecledlvsf
       61 iieeppqdmd ekirykypni scelltsdvs qmndrlgede sllmklysfl lndsplnpll
      121 asffskvlsi lisrkpeqiv dflkkkhdfv dliikhigts aimdlllrll tcieppqprq
      181 dvlnwlneek iiqrlveivh psqeedrhsn asqslceivr lsrdqmlqiq nstepdplla
      241 tlekqeiieq llsnifhkek nesaivsaiq illtlletrr ptfeghieic ppgmshsacs
      301 vnksvleair grlgsfhell leppkksvmk ttwgvldppv gntrlnvirl issllqtnts
      361 singdlmeln sigvilnmff kytwnnflht qveicialil aspfentena titdqdstgd
      421 nlllkhlfqk cqlierilea wemnekkqae ggrrhgymgh ltriancivh stdkgpnsal
      481 vqqlikdlpd evrerwetfc tsslgetnkr ntvdlafsdy qmqqmtsnfi dqfgfndekf
      541 adqddignvs fdrvsdinft lntnesgnia lfeacckeri qqfddggsde ediweekhia
      601 ftpesqrrss sgstdseest dseeedgakq dlfepssant edkmevdlse ppnwsanfdv
      661 pmetthgapl dsvgsdvwst eepmptketg wasfseftss lstkdslrsn spvemetste
      721 pmdpltpsaa alavqpeaag svameassdg eedaestdkv tetvmnggmk etlsltvdak
      781 tetavfksee gklstsqdaa ckdaeecpet aeakcaaprp pssspeqsas dacllllrtg
      841 qpsapgdtsv ngpv
//
LOCUS       XP_054226807             508 aa            linear   PRI 20-MAR-2023
DEFINITION  fibroblast growth factor receptor substrate 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054226807
VERSION     XP_054226807.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370832.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..508
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..508
                     /product="fibroblast growth factor receptor substrate 2
                     isoform X1"
                     /calculated_mol_wt=56898
     CDS             1..508
                     /gene="FRS2"
                     /gene_synonym="FRS1A; FRS2A; FRS2alpha; SNT; SNT-1; SNT1"
                     /coded_by="XM_054370832.1:644..2170"
                     /db_xref="GeneID:10818"
                     /db_xref="HGNC:HGNC:16971"
                     /db_xref="MIM:607743"
ORIGIN      
        1 mgsccscpdk dtvpdnhrnk fkvinvdddg nelgsgimel tdtelilytr krdsvkwhyl
       61 clrrygydsn lfsfesgrrc qtgqgifafk caraeelfnm lqeimqnnsi nvveepvver
      121 nnhqtelevp rtprtpttpg faaqnlpngy prypsfgdas shpssrhpsv gsarlpsvge
      181 esthpllvae eqvhtyvntt gvqeerknrt svhvplearv snaesstpke epssiedrdp
      241 qillepegvk fvlgptpvqk qlmekekleq lgrdqvsgsg anntewdtgy dsderrdaps
      301 vnklvyenin glsipsasgv rrgrltstst sdtqninnsa qrrtallnye nlpslppvwe
      361 arklsrdedd nlgpktpsln gyhnnldpmh nyvntenvtv pasahkieys rrrdctptvf
      421 nfdirrpsle hrqlnyiqvd leggsdsdnp qtpktpttpl pqtptrrtel yavidierta
      481 amsnlqkalp rddgtsrktr hnstdlpm
//
LOCUS       XP_054228667             618 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-dependent RNA helicase DDX55 isoform X1 [Homo sapiens].
ACCESSION   XP_054228667
VERSION     XP_054228667.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372692.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..618
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..618
                     /product="ATP-dependent RNA helicase DDX55 isoform X1"
                     /calculated_mol_wt=70386
     CDS             1..618
                     /gene="DDX55"
                     /coded_by="XM_054372692.1:51..1907"
                     /db_xref="GeneID:57696"
                     /db_xref="HGNC:HGNC:20085"
                     /db_xref="MIM:620176"
ORIGIN      
        1 mehvtegswe slpvplhpqv lgalrelgfp ymtpvqsati plfmrnkdva aeavtgsgkt
       61 lafvipilei llrreeklkk sqvgaiiitp trelaiqide vlshftkhfp efsqilwigg
      121 rnpgedverf kqqggniiva tpgrledmfr rkaegldlas cvrsldvlvl deadrlldmg
      181 feasintile flpkqrrtgl fsatqtqeve nlvraglrnp vrvsvkekgv aassaqktps
      241 rlenyymvck adekfnqlvh flrnhkqekh lvffryssgl cgrgirdsar mcstcacvey
      301 ygkalevlvk gvkimcihgk mkykrnkifm efrklqsgil vctdvmargi dipevnwvlq
      361 ydppsnasaf vhrcgrtari ghggsalvfl lpmeesyinf lainqkcplq emkpqrntad
      421 llpklksmal adravfekgm kafvsyvqay akhecnlifr lkdldfasla rgfallrmpk
      481 mpelrgkqfp dfvpvdvntd tipfkdkire kqrqklleqq rrektenegr rkfiknkaws
      541 kqkakkekkk kmnekrkree gsdiededme ellndtrllk klkkgkitee efekgllttg
      601 krtiktvdlg isdleddc
//
LOCUS       XP_054229795             166 aa            linear   PRI 20-MAR-2023
DEFINITION  mitochondrial translation release factor in rescue isoform X1 [Homo
            sapiens].
ACCESSION   XP_054229795
VERSION     XP_054229795.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373820.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..166
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..166
                     /product="mitochondrial translation release factor in
                     rescue isoform X1"
                     /calculated_mol_wt=18697
     CDS             1..166
                     /gene="MTRFR"
                     /gene_synonym="C12orf65; COXPD7; mtRF-R; SPG55"
                     /coded_by="XM_054373820.1:2007..2507"
                     /db_xref="GeneID:91574"
                     /db_xref="HGNC:HGNC:26784"
                     /db_xref="MIM:613541"
ORIGIN      
        1 mstvglfhfp tpltricpap wglrlweklt llspgiavtp vqmagkkdyp allsldenel
       61 eeqfvkghgp ggqatnktsn cvvlkhipsg ivvkchqtrs vdqnrklark ilqekvdvfy
      121 ngenspvhke kreaakkkqe rkkraketle kkkllkelwe sskkvh
//
LOCUS       XP_054232975             596 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 20 isoform X9 [Homo sapiens].
ACCESSION   XP_054232975
VERSION     XP_054232975.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377000.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..596
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..596
                     /product="WD repeat-containing protein 20 isoform X9"
                     /calculated_mol_wt=65751
     CDS             1..596
                     /gene="WDR20"
                     /gene_synonym="Bun107; DMR"
                     /coded_by="XM_054377000.1:28..1818"
                     /db_xref="GeneID:91833"
                     /db_xref="HGNC:HGNC:19667"
                     /db_xref="MIM:617741"
ORIGIN      
        1 mategggkem neiktqfttr eglykllphs eysrpnrvpf nsqgsnpvrv sfvnlndqsg
       61 ngdrlcfnvg relyfyiykg vrkvptrasp epasgaadls kpidkriykg tqptchdfnh
      121 ltataesvsl lvgfsagqvq lidpikkets klfneerlid ksrvtcvkwv pgseslflva
      181 hssgnmylyn vehtcgttap hyqllkqges favhtcksks trnpllkwtv gegalnefaf
      241 spdgkflacv sqdgflrvfn fdsvelhgtm ksyfggllcv cwspdgkyiv tggeddlvtv
      301 wsfvdcrvia rghghkswvs vvafdpytts veegdpmefs gsdedfqdll hfgrdranst
      361 qsrlskrnst dsrpvsvtyr fgsvgqdtql clwdltedil fphqplsrar thtnvmnats
      421 ppagsngnsv ttpgnsvppp lprsnslphs avsnagskss vmdgaiasgv skfatlslhd
      481 rkerhhekdh krnhsmghis skssdklnlv tktktdpakt lgtplcprme dvplleplic
      541 kkiaherltv lifledcivt acqegfictw grpgkvpaeh fcrqedrmqg vlqdqn
//
LOCUS       XP_054171007             505 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 13B isoform X5 [Homo
            sapiens].
ACCESSION   XP_054171007
VERSION     XP_054171007.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315032.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..505
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..505
                     /product="ankyrin repeat domain-containing protein 13B
                     isoform X5"
                     /calculated_mol_wt=55952
     CDS             1..505
                     /gene="ANKRD13B"
                     /coded_by="XM_054315032.1:596..2113"
                     /db_xref="GeneID:124930"
                     /db_xref="HGNC:HGNC:26363"
                     /db_xref="MIM:615124"
ORIGIN      
        1 mkweftswvp lvskicpsdt ykvwksgqnl rvdttllgfd hmtwqrgnrs fvfrgqdtsa
       61 vvmeidhdrr vvytetlala gqdrelllaa aqpteeqvls rltapvvttq ldtknisfer
      121 nktgilgwrs ektemvngye akvygasnve litrtrtehl seqhkgkvkg cktplqsflg
      181 iaeqhggpqn gtlitqtlsq anptaitaee yfnpnfelgn rdmgrpmelt tktqnvpypl
      241 gsgggrfkak lwlceehpls lceqvapiid lmavsnalfa klrdfitlrl ppgfpvkiei
      301 pifhilnari tfgnlngcde pvpsvrgsps setpspgsds ssvssssstt scrgceispa
      361 lfeaprgysm mggqreaatr dddddllqfa iqqslleags eydqvtiwea ltnskpgthp
      421 msyegrrqdr sapptpqrqp appasvpspr pssgpgsggh vfrsydeqlr lamelsaqeq
      481 eerrrrarqe eeelerilrl slteq
//
LOCUS       XP_054173715             632 aa            linear   PRI 20-MAR-2023
DEFINITION  monocarboxylate transporter 6 isoform X1 [Homo sapiens].
ACCESSION   XP_054173715
VERSION     XP_054173715.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317740.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..632
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..632
                     /product="monocarboxylate transporter 6 isoform X1"
                     /calculated_mol_wt=68888
     CDS             1..632
                     /gene="SLC16A5"
                     /gene_synonym="MCT5; MCT6"
                     /coded_by="XM_054317740.1:130..2028"
                     /db_xref="GeneID:9121"
                     /db_xref="HGNC:HGNC:10926"
                     /db_xref="MIM:603879"
ORIGIN      
        1 mprptrgpla tsqgwcpsvt pgtwaaatla vrpwqrrqqr mpqaleradg swawvvllat
       61 mvtqgltlgf ptcigiffte lqwefqasns etswfpsilt avlhmagplc silvgrfgcr
      121 vtvmlggvla slgmvassfs hnlsqlyfta gfitglgmcf sfqssitvlg fyfvrrrvla
      181 nalasmgvsl gitlwpllsr yllenlgwrg tflvfggifl hccicgaiir pvatsvapet
      241 kecpppppet palgclaacg rtiqrhlafd ilrhntgycv yilgvmwsvl gfplpqvflv
      301 pyamwhsvde qqaallisii gfsniflrpl aglmagrpaf ashrkylfsl alllngltnl
      361 vcaasgdfwv lvgyclaysv smsgigalif qvlmdivpmd qfpralglft vldglaflis
      421 pplaglllda tnnfsyvfym ssfflisaal fmggsfyalq kkeqgkqava adalerdlfl
      481 eakdgpgkqr speiifcsnl hldmgygrpg cssqythprl hlpqrsrspl vpaqakelrh
      541 penqkraaha rqgvrrrprp fggrdsaasa gspepspgag dgapvpppra ptsrrfpvsr
      601 apisifkrns yrilrprpis hipfpaanyc ri
//
LOCUS       XP_054178229             459 aa            linear   PRI 20-MAR-2023
DEFINITION  long-chain-fatty-acid--CoA ligase ACSBG2 isoform X6 [Homo sapiens].
ACCESSION   XP_054178229
VERSION     XP_054178229.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322254.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..459
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..459
                     /product="long-chain-fatty-acid--CoA ligase ACSBG2 isoform
                     X6"
                     /calculated_mol_wt=51554
     CDS             1..459
                     /gene="ACSBG2"
                     /gene_synonym="BGR; BRGL; PRTD-NY3; PRTDNY3"
                     /coded_by="XM_054322254.1:113..1492"
                     /db_xref="GeneID:81616"
                     /db_xref="HGNC:HGNC:24174"
                     /db_xref="MIM:614363"
ORIGIN      
        1 mywgifqeqg kqqqtrqtqs gpweqirneq mktfslcdmi twiagavtkd fkltdkhetv
       61 vsylplshia aqmmdiwvpi kigaltyfaq adalkgtlvs tlkevkptvf igvpqiweki
      121 hemvkknsak smglkkkafv warnigfkvn skkmlgkynt pvsyrmaktl vfskvktslg
      181 ldhchsfisg taplnqetae fflsldipig elyglsessg phtisnqnny rllscgkilt
      241 gcknmlfqqn kdgigeiclw grhifmgyle setetteaid degwlhsgdl gqldglgfly
      301 vtghikeili taggenvppi pvetlvkkki piisnamlvg dklkflsmll tlkcemnqms
      361 gepldklnfe ainfcrglgs qastvteivk qqdplvykai qqginavnqe amnnaqriek
      421 wvilekdfsi yggelgpmmk lkrhfvaqky kkqidhmyh
//
LOCUS       XP_054197270             690 aa            linear   PRI 20-MAR-2023
DEFINITION  ras guanyl-releasing protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054197270
VERSION     XP_054197270.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341295.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..690
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..690
                     /product="ras guanyl-releasing protein 3 isoform X1"
                     /calculated_mol_wt=78201
     CDS             1..690
                     /gene="RASGRP3"
                     /gene_synonym="GRP3"
                     /coded_by="XM_054341295.1:684..2756"
                     /db_xref="GeneID:25780"
                     /db_xref="HGNC:HGNC:14545"
                     /db_xref="MIM:609531"
ORIGIN      
        1 mgssglgkaa tldellctci emfddngeld nsylprivll mhrwylsste laekllcmyr
       61 natgescnef rlkicyfmry wilkfpaefn ldlglirmte efrevasqlg yekhvslidi
      121 ssipsydwmr rvtqrkkvsk kgkacllfdh lepielaehl tflehksfrr isftdyqsyv
      181 ihgclennpt lersialfng iskwvqlmvl skptpqqrae vitkfinvak kllqlknfnt
      241 lmavvgglsh ssisrlketh shlssevtkn wnemtelvss ngnycnyrka fadcdgfkip
      301 ilgvhlkdli avhvifpdwt eenkvnivkm hqlsvtlsel vslqnashhl epnmdlinll
      361 tlsldlyhte ddiyklslvl eprnsksqpt spttpnkpvv plewalgvmp kpdptvinkh
      421 irklvesvfr nydhdhdgyi sqedfesiaa nfpfldsfcv ldkdqdglis kdemmayflr
      481 aksqlhckmg pgfihnfqem tylkptfceh cagflwgiik qgykckdcga nchkqckdll
      541 vlacrrfara pslssghgsl pgspslppaq devfefpgvt aghrdldsra itlvtgssrk
      601 isvrlqratt sqatqtepvw seagwgdsgs htfpkmkskf hdkaakdkgf akwenekprv
      661 hagvdvvdrg tefeldqdeg eetrqdgedg
//
LOCUS       XP_054197762             145 aa            linear   PRI 20-MAR-2023
DEFINITION  formiminotransferase N-terminal subdomain-containing protein
            isoform X5 [Homo sapiens].
ACCESSION   XP_054197762
VERSION     XP_054197762.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341787.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..145
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..145
                     /product="formiminotransferase N-terminal
                     subdomain-containing protein isoform X5"
                     /calculated_mol_wt=15844
     CDS             1..145
                     /gene="FTCDNL1"
                     /gene_synonym="FONG"
                     /coded_by="XM_054341787.1:461..898"
                     /db_xref="GeneID:348751"
                     /db_xref="HGNC:HGNC:48661"
                     /db_xref="MIM:614308"
ORIGIN      
        1 msssrvglrl aacllnvsea grkyivenia kaalldkngk khpqvsvlni fsdqdykrsv
       61 itiatsvdkl glaedlvlhv pgcsvflfge adlpekrslv qrrkqlgwft rrdfsalqpd
      121 lgaapsqrcg ltawrsaqra pllle
//
LOCUS       XP_054197890             272 aa            linear   PRI 20-MAR-2023
DEFINITION  ciliogenesis-associated TTC17-interacting protein isoform X4 [Homo
            sapiens].
ACCESSION   XP_054197890
VERSION     XP_054197890.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341915.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..272
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..272
                     /product="ciliogenesis-associated TTC17-interacting
                     protein isoform X4"
                     /calculated_mol_wt=31037
     CDS             1..272
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /coded_by="XM_054341915.1:170..988"
                     /db_xref="GeneID:375307"
                     /db_xref="HGNC:HGNC:25062"
                     /db_xref="MIM:619387"
ORIGIN      
        1 meqhsqdfik flilpmerkm sllkqddqla vtrsikegee vktgvtsfpw ssikgfisea
       61 anlvllrvma wrrmvpsnar fltldtegkl cyltyqnlgf qtiqvdhqqa evfiveqtvh
      121 aeegipmscq yyllsdghla kriqvgspgc ciitkmpilr eedeieprpv fekkplvwee
      181 dmelyskfld rkeelrlgha sylrqhpeah alisdfllfl llrqpedvvt faaeffgpfd
      241 pwrpsspalg sshrpnpfrs lepegdarsg aa
//
LOCUS       XP_054197944             657 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family M member 3 isoform X3
            [Homo sapiens].
ACCESSION   XP_054197944
VERSION     XP_054197944.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341969.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..657
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..657
                     /product="pleckstrin homology domain-containing family M
                     member 3 isoform X3"
                     /calculated_mol_wt=75357
     CDS             1..657
                     /gene="PLEKHM3"
                     /gene_synonym="DAPR; PLEKHM1L"
                     /coded_by="XM_054341969.1:678..2651"
                     /db_xref="GeneID:389072"
                     /db_xref="HGNC:HGNC:34006"
                     /db_xref="MIM:619186"
ORIGIN      
        1 mealevddis palevteeff stldsnleka vqqaevygiq evpelvghev lsnitdngam
       61 rnvtslgkgg miwdhcksrl letkaqnvfp akeqfmvqrg ttpdnlswme qkeastfnff
      121 nicqrrrdrp rsvndlldet stfkpghars rsditqvdwr vvlkttplqq qqqqqpllqg
      181 phvtrpsfll pspnkiedaq gntehkqtfp nilkkgylei rkdhdsywqs cyaelspynl
      241 yfysldssgn qnlyatyqls hfqsisvlgn learmvdtvl ydntqlqlka espwealdwg
      301 qklwevvhaa vpgymgrqne ltispglghh ddytqnhsfq kktsgllpps pvldsskqyq
      361 nilksgtlyr ltvqnnwkaf tfvlsraylm afqpgklded pllsynvdvc lavqmdnldg
      421 cdscfqvifp qdvlrlraet rqraqewmea lkiaanvars seqnlqvtlr nkpkdqmggh
      481 elrknkrqsv ttsflsiltt lslergltaq sfkcagcqrs iglsngkakv cnysgwyycs
      541 schvddsfli parivhnwdt skykvskqak efleyvyeep lidiqqenam lyhhaeplaa
      601 vlrlrqrlks lraylfscra avaedlrrri fpreyllqqi hlysladlqq qyqkkwm
//
LOCUS       XP_054198639             481 aa            linear   PRI 20-MAR-2023
DEFINITION  all-trans-retinol 13,14-reductase isoform X1 [Homo sapiens].
ACCESSION   XP_054198639
VERSION     XP_054198639.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342664.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..481
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..481
                     /product="all-trans-retinol 13,14-reductase isoform X1"
                     /calculated_mol_wt=52308
     CDS             1..481
                     /gene="RETSAT"
                     /coded_by="XM_054342664.1:22..1467"
                     /db_xref="GeneID:54884"
                     /db_xref="HGNC:HGNC:25991"
                     /db_xref="MIM:617597"
ORIGIN      
        1 mwlplvllla vlllavlckv ylglfsgssp npfsedvkrp paplvtdkea rkkvlkqafs
       61 anqvpekldv vvigsgfggl aaaailakag krvlvleqht kaggcchtfg knglefdtgi
      121 hyigrmeegs igrfildqit egqldwapls spfdimvleg pngrkeypmy sgekayiqgl
      181 kekfpqeeai idkyiklvkv vssgaphail lkflplpvvq lldrcglltr fspflqastq
      241 slaevlqqlg asselqavls yifptygvtp nhsafsmhal lvnhymkggf yprggsseia
      301 fhtipviqra ggavltkatv qsvlldsagk acgvsvkkgh elvniycpiv vsnaglfnty
      361 ehllpgnarc lpgvkqqlgt vrpglgmtsv ficlrgtked lhlpstnyyv yydtdmdqam
      421 eryvsmpree aaehipllff afpsakdptw edrfpggecd cripthqpvl sgcsprcllr
      481 g
//
LOCUS       XP_054198760             431 aa            linear   PRI 20-MAR-2023
DEFINITION  threonine synthase-like 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054198760
VERSION     XP_054198760.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342785.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..431
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..431
                     /product="threonine synthase-like 2 isoform X2"
                     /calculated_mol_wt=47944
     CDS             1..431
                     /gene="THNSL2"
                     /gene_synonym="SOFAT; THS2; TSH2"
                     /coded_by="XM_054342785.1:2827..4122"
                     /db_xref="GeneID:55258"
                     /db_xref="HGNC:HGNC:25602"
                     /db_xref="MIM:611261"
ORIGIN      
        1 mwyvstrgva prvnfegalf sgyapdgglf mpeelpqldr etlcqwstls ypglvkelca
       61 lfigsellpk delndlidra fsrfrhrevv hlsrlrngln vlelwhgvty afkdlslsct
      121 tqflqyflek rekhvtvvvg tsgdtgsaai esvqgaknmd iivllpkghc tkiqelqmtt
      181 vlkqnvhvfg vegnsdelde piktvfadva fvkkhnlmsl nsinwsrvlv qmahhffayf
      241 qctpsldthp lplvevvvpt gaagnlaagy iaqkiglpir lvvavnrndi ihrtvqqgdf
      301 slseavkstl asamdiqvpy nmervfwlls gsdsqvtral meqfertqsv nlpkelhskl
      361 seavtsvsvs deaitqtmgr cwdenqyllc phsavavnyh yqqidrqqpr gplllqavge
      421 tglrkngcng v
//
LOCUS       XP_054202791             269 aa            linear   PRI 20-MAR-2023
DEFINITION  PHD finger protein 7 isoform X3 [Homo sapiens].
ACCESSION   XP_054202791
VERSION     XP_054202791.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346816.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..269
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..269
                     /product="PHD finger protein 7 isoform X3"
                     /calculated_mol_wt=30964
     CDS             1..269
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /coded_by="XM_054346816.1:658..1467"
                     /db_xref="GeneID:51533"
                     /db_xref="HGNC:HGNC:18458"
                     /db_xref="MIM:620057"
ORIGIN      
        1 mktvkekkec qrlrksaktr rvtqrkpssg pvcwlclrep gdpeklgefl qkdnisvhyf
       61 clilssklpq rgqsnrgfhg flpedikkea arasrkicfv ckkkgaainc qkdqclrnfh
      121 lpcgqergcl sqffgeyksf cdkhrptqni qhghvgeesc ilccedlsqq sveniqspcc
      181 sqaiyhrkci qkyahtsakh ffkcpqcnnr kefpqemlrm gihipdrdaa welepgafsd
      241 lyqryqhcda piclyeqgrd sfedeglht
//
LOCUS       XP_054205993             496 aa            linear   PRI 20-MAR-2023
DEFINITION  serine-rich coiled-coil domain-containing protein 1 isoform X23
            [Homo sapiens].
ACCESSION   XP_054205993
VERSION     XP_054205993.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350018.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..496
                     /product="serine-rich coiled-coil domain-containing
                     protein 1 isoform X23"
                     /calculated_mol_wt=54241
     CDS             1..496
                     /gene="CCSER1"
                     /gene_synonym="FAM190A"
                     /coded_by="XM_054350018.1:480..1970"
                     /db_xref="GeneID:401145"
                     /db_xref="HGNC:HGNC:29349"
                     /db_xref="MIM:618934"
ORIGIN      
        1 mgdsgsrrst lvsrlpifrr sinrrhdslp sspsssntvg vhssspsstn sssgstgkrr
       61 sifrtpsisf hhkkgsepkq eptnqnlsis ngaqpghsnm qklsleehik trgrhsvgfs
      121 ssrnkkitrs ltedfereke hstnknvfin clssgksegd dsgftedqtr rsvkqstrkl
      181 lpksfsshyk fskpvlqsqs islvqqsefs levtqyqere pvlvraspsc svdvterags
      241 slqspllsad lttaqtpsef laltedsvse mdafsksgsm ashcdnfghn dstsqmslns
      301 aavtktttel tgtvpcaims pgkyrlegqc stesnslpet saanqkevll qiaelpatsv
      361 shsesnlpad sereeniglq nsetmlgtns prklgfyeqh kaiaehvkgi hpisdskiip
      421 tsgdhhifnk tshgyeanpa kgkkmgakin cvstitklii hllgyksyer misylgdyyy
      481 vdwdpicnti tlilli
//
LOCUS       XP_054206907             532 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium/calmodulin-dependent protein kinase type II subunit delta
            isoform X2 [Homo sapiens].
ACCESSION   XP_054206907
VERSION     XP_054206907.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350932.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..532
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..532
                     /product="calcium/calmodulin-dependent protein kinase type
                     II subunit delta isoform X2"
                     /calculated_mol_wt=59803
     CDS             1..532
                     /gene="CAMK2D"
                     /gene_synonym="CAMKD"
                     /coded_by="XM_054350932.1:671..2269"
                     /db_xref="GeneID:817"
                     /db_xref="HGNC:HGNC:1462"
                     /db_xref="MIM:607708"
ORIGIN      
        1 mastttctrf tdeyqlfeel gkgafsvvrr cmkiptgqey aakiintkkl sardhqkler
       61 earicrllkh pnivrlhdsi seegfhylvf dlvtggelfe divareyyse adashciqqi
      121 leavlhchqm gvvhrdlkpe nlllaskskg aavkladfgl aievqgdqqa wfgfagtpgy
      181 lspevlrkdp ygkpvdmwac gvilyillvg yppfwdedqh rlyqqikaga ydfpspewdt
      241 vtpeakdlin kmltinpakr itasealkhp wicqrstvas mmhrqetvdc lkkfnarrkl
      301 kgailttmla trnfsaksll kkpdgvkinn kanvvtspke niptpalepq ttvihnpdgn
      361 kestessntt iededvkark qeiikvteql ieainngdfe aytkicdpgl tafepealgn
      421 lvegmdfhrf yfenalsksn kpihtiilnp hvhlvgddaa ciayirltqy mdgsgmpktm
      481 qseetrvwhr rdgkwqnvhf hrsgsptvpi kppcipngke nfsggtslwq ni
//
LOCUS       XP_054208593             465 aa            linear   PRI 20-MAR-2023
DEFINITION  myocyte-specific enhancer factor 2C isoform X3 [Homo sapiens].
ACCESSION   XP_054208593
VERSION     XP_054208593.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352618.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..465
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..465
                     /product="myocyte-specific enhancer factor 2C isoform X3"
                     /calculated_mol_wt=50205
     CDS             1..465
                     /gene="MEF2C"
                     /gene_synonym="C5DELq14.3; DEL5q14.3; NEDHSIL"
                     /coded_by="XM_054352618.1:1903..3300"
                     /db_xref="GeneID:4208"
                     /db_xref="HGNC:HGNC:6996"
                     /db_xref="MIM:600662"
ORIGIN      
        1 mgrkkiqitr imdernrqvt ftkrkfglmk kayelsvlcd ceialiifns tnklfqyast
       61 dmdkvllkyt eynephesrt nsdivetlrk kglngcdspd pdaddsvghs pesedkyrki
      121 nedidlmisr qrlcavpppn fempvsipvs shnslvysnp vsslgnpnll plahpslqrn
      181 smspgvthrp psagntgglm ggdltsgagt sagngygnpr nspgllvspg nlnknmqaks
      241 pppmnlgmnn rkpdlrvlip pgskntmpsv nqrinnsqsa qslatpvvsv atptlpgqgm
      301 ggypsaistt ygteyslssa dlsslsgfnt asalhlgsvt gwqqqhlhnm ppsalsqlga
      361 ctsthlsqss nlslpstqsl niksepvspp rdrtttpsry pqhtrheagr spvdslsscs
      421 ssydgsdred hrnefhspig ltrpspdere spsvkrmrls egwat
//
LOCUS       XP_054209902             444 aa            linear   PRI 20-MAR-2023
DEFINITION  M-phase inducer phosphatase 3 isoform X7 [Homo sapiens].
ACCESSION   XP_054209902
VERSION     XP_054209902.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353927.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..444
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..444
                     /product="M-phase inducer phosphatase 3 isoform X7"
                     /calculated_mol_wt=50277
     CDS             1..444
                     /gene="CDC25C"
                     /gene_synonym="CDC25; PPP1R60"
                     /coded_by="XM_054353927.1:187..1521"
                     /db_xref="GeneID:995"
                     /db_xref="HGNC:HGNC:1727"
                     /db_xref="MIM:157680"
ORIGIN      
        1 megaapcrvs lkvslgqrcw erawrfdlgm gvvssltshp lqniaesgrp qleahletrg
       61 gghvgrrfcf spgensktms telfsstree gssgsgpsfr snqrkmlnll lerdtsftvc
      121 pdvprtpvgk flgdsanlsi lsgspgffrt sgsafswddn gnlvdsemky lgspittvpk
      181 ldknpnlged qaeeisdelm efslkdqeak vsrsglyrsp smpenlnrpr lkqvekfkdn
      241 tipdkvkkky fsgqgklrkv calptvsgkh qdlkyvnpet vaallsgkfq gliekfyvid
      301 crypyeylgg hiqgalnlys qeelfnfflk kpivpldtqk riiivfhcef ssergprmcr
      361 clreedrsln qypalyypel yilkggyrdf fpeymelcep qsycpmhhqd hktellrcrs
      421 qskvqegerq lreqiallvk dmsp
//
LOCUS       XP_054210440             600 aa            linear   PRI 20-MAR-2023
DEFINITION  eyes absent homolog 4 isoform X21 [Homo sapiens].
ACCESSION   XP_054210440
VERSION     XP_054210440.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354465.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..600
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..600
                     /product="eyes absent homolog 4 isoform X21"
                     /calculated_mol_wt=64764
     CDS             1..600
                     /gene="EYA4"
                     /gene_synonym="CMD1J; DFNA10"
                     /coded_by="XM_054354465.1:459..2261"
                     /db_xref="GeneID:2070"
                     /db_xref="HGNC:HGNC:3522"
                     /db_xref="MIM:603550"
ORIGIN      
        1 medsqdlneq svkktctesd vsqsqnsrsm emqdlaspht lvgggdtpgs skleksnlss
       61 tsvttngtgv sllavktepl nssettattg dgaldtftgs vitssgyspr sahqyspqly
      121 pskpyphils tpaaqtmsay agqtqysgmq qpavytaysq tgqpyslpty dlgvmlpaik
      181 tesglsqtqs plqsgclsys pgfstpqpgq tpysyqmpgs sfapsstiya nnsvsnstnf
      241 sgsqqdypsy tafgqnqyaq yysastygay mtsnntadgt psststyqlq eslpgltnqp
      301 gtdlhpgefd tmqspstpik dldertcrss gsksrgrgrk nnpspppdsd lervfvwdld
      361 etiivfhsll tgsyaqkygk dppmavtlgl rmeemifnla dthlffndle ecdqvhiddv
      421 ssddngqdls tysfatdgfh aaassanlcl ptgvrggvdw mrklafryrr vkelyntykn
      481 nvggllgpak rdawlqlrae iegltdswlt nalkslsiis trsncinvlv tttqlipala
      541 kvllyslgga fpieniysat kigkescfer ivsrfgtnit yvvigdgrde ehaanqvtsl
//
LOCUS       XP_054211423             186 aa            linear   PRI 20-MAR-2023
DEFINITION  myoD family inhibitor isoform X3 [Homo sapiens].
ACCESSION   XP_054211423
VERSION     XP_054211423.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355448.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..186
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..186
                     /product="myoD family inhibitor isoform X3"
                     /calculated_mol_wt=18996
     CDS             1..186
                     /gene="MDFI"
                     /gene_synonym="I-MF; I-mfa"
                     /coded_by="XM_054355448.1:1045..1605"
                     /db_xref="GeneID:4188"
                     /db_xref="HGNC:HGNC:6967"
                     /db_xref="MIM:604971"
ORIGIN      
        1 mpqgngpgip qgldstdldv pteavtcqpq gnplgctpll pndsghpsel ggtrragnga
       61 lggpkahrkl qthpslasqg skksksssks ttsqiplqaq edccvhcils clfcefltlc
      121 nivldcatcg scssedsclc ccccgsgeca dcdlpcdldc gildaccesa dcleicmecc
      181 glcfss
//
LOCUS       XP_054212628            1342 aa            linear   PRI 20-MAR-2023
DEFINITION  ras/Rap GTPase-activating protein SynGAP isoform X1 [Homo sapiens].
ACCESSION   XP_054212628
VERSION     XP_054212628.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356653.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1342
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1342
                     /product="ras/Rap GTPase-activating protein SynGAP isoform
                     X1"
                     /calculated_mol_wt=148025
     CDS             1..1342
                     /gene="SYNGAP1"
                     /gene_synonym="MRD5; RASA1; RASA5; SYNGAP"
                     /coded_by="XM_054356653.1:201..4229"
                     /db_xref="GeneID:8831"
                     /db_xref="HGNC:HGNC:11497"
                     /db_xref="MIM:603384"
ORIGIN      
        1 msrsrasihr gsipamsyap frdvrgpsmh rtqyvhspyd rpgwnprfci isgnqllmld
       61 edeihpllir drrsessrnk llrrtvsvpv egrphgehey hlgrsrrksv pggkqysmeg
      121 apaapfrpsq gflsrrlkss ikrtksqpkl drtssfrqil prfrsadhdr arlmqsfkes
      181 hshesllsps saaealelnl dedsiikpvh ssilgqefcf evttssgtkc facrsaaerd
      241 kwienlqrav kpnkdnsrrv dnvlklwiie arelppkkry ycelclddml yarttskprs
      301 asgdtvfwge hfefnnlpav ralrlhlyrd sdkkrkkdka gyvglvtvpv atlagrhfte
      361 qwypvtlptg sggsggmgsg ggggsgggsg gkgkggcpav rlkaryqtms ilpmelykef
      421 aeyvtnhyrm lcavlepaln vkgkeevasa lvhilqstgk akdflsdmam sevdrfmere
      481 hlifrentla tkaieeymrl igqkylkdai gefiralyes eencevdpik ctasslaehq
      541 anlrmccela lckvvnshcv fprelkevfa swrlrcaerg rediadrlis aslflrflcp
      601 aimspslfgl mqeypdeqts rtltliakvi qnlanfskft skedflgfmn eflelewgsm
      661 qqflyeisnl dtltnsssfe gyidlgrels tlhallwevl pqlskeallk lgplprllnd
      721 istalrnpni qrqpsrqser prpqpvvlrg psaemqgymm rdlnssidlq sfmarglnss
      781 mdmarlpspt kekppppppg ggkdlfyvsr pplarsspay ctsssditep eqkmlsvnks
      841 vsmldlqgdg pggrlnsssv snlaavgdll hssqasltaa lglrpapagr lsqgsgssit
      901 aagmrlsqmg vttdgvpaqq lriplsfqnp lfhmaadgpg ppgghggggg hgppsshhhh
      961 hhhhhhrgge ppgdtfapfh gysksedlss gvpkppaasi lhshsysdef gpsgtdftrr
     1021 qlslqdnlqh mlsppqitig pqrpapsgpg ggsgggsggg gggqppplqr gksqqltvsa
     1081 aqkprpssgn llqspepsyg parprqqsls kegsiggsgg sggggggglk psitkqhsqt
     1141 pstlnptmpa sertvawvsn mphlsadies ahiereeykl keysksmdes rldreyeeei
     1201 hslkerlhms nrkleeyerr llsqeeqtsk ilmqyqarle qsekrlrqqq aekdsqiksi
     1261 igrlmlveee lrrdhpamae plpepkkrll daqverqlpp lgptnprvtl appwnglapp
     1321 appppprlqi tengefrnta dh
//
LOCUS       XP_054217522            1306 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 10 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054217522
VERSION     XP_054217522.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361547.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1306
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1306
                     /product="rho guanine nucleotide exchange factor 10
                     isoform X3"
                     /calculated_mol_wt=144139
     CDS             1..1306
                     /gene="ARHGEF10"
                     /gene_synonym="GEF10; SNCV"
                     /coded_by="XM_054361547.1:197..4117"
                     /db_xref="GeneID:9639"
                     /db_xref="HGNC:HGNC:14103"
                     /db_xref="MIM:608136"
ORIGIN      
        1 mdqreplppa paenemkydt nnneeeegeq fdfdsgdeip eadrqapsap etggagasea
       61 paptggedga gaettpvaep tklvlpmkvn pysviditpf qedqpptpvp saeeenvglh
      121 vpcgylvpvp cgyavpsnlp lllpaysspv iicatsldee aetpevtedr qpnslsseep
      181 ptsedqvgre dsalarwaad pantawmenp eeaiyddvpr ensdsepdem iyddvengde
      241 ggnssleygw sssefesyee qsdseckngi prsflrsnhk kqmqklvkaa kdgtkdgler
      301 traavkrgrs firtksliaq dhrssleeeq nlfidvdckh peailtpmpe glsqqqvvrr
      361 yilgsvvdse knyvdalkri leqyekplse mepkvlserk lktvfyrvke ilqchslfqi
      421 alasrvsewd svemigdvfv asfsksmvld ayseyvnnfs tavavlkktc atkpaflefl
      481 kqeqeaspdr ttlyslmmkp iqrfpqfill lqdmlkntsk ghpdrlplqm alteletlae
      541 klnerkrdad qrcevkqiak ainerylnkl lssgsrylir sddmietvyn drgeivktke
      601 rrvfmlndvl mcatvssrps hdsrvmssqr yllkwsvplg hvdaieygss agtgehsrhl
      661 avhppeslav vanakpnkvy mgpgqlyqdl qnllhdlnvi gqitqlignl kgnyqnlnqs
      721 vahdwtsglq rlilkkedei raadccriql qlpgkqdksg rptfftavfn tftpaikesw
      781 vnslqmakla leeenhmgwf cveddgnhik kekhpllvgh mpvmvakqqe fkiecaaynp
      841 epylnnesqp dsfstahgfl wigscthqmg qiaivsfqns tpkviecfnv esrilcmlyv
      901 pveekrrepg appdpetpav rasdvpticv gteegsisiy kssqgskkvr lqhfftpeks
      961 tvmslactsq slyaglvnga vasyarapdg swdsepqkvi klgvlpvrsl lmmedtlwaa
     1021 sggqvfiisv ethavegqle ahqeegmvis hmavsgvgiw iaftsgstlr lfhtetlkhl
     1081 qdiniatpvh nmlpghqrls vtsllvchgl lmvgtslgvl valpvprlqg ipkvtgrgmv
     1141 syhahnspvk fivlatalhe kdkdksrdsl apgpepqded qkdalpsgga gsslsqgdpd
     1201 aaiwlgdslg smtqksdlss ssgslslshg ssslehrsed stiydllkdp vslrskarra
     1261 kkakassalv vcggqghrrv hrkarqphqe elaptvmvwq ipllni
//
LOCUS       XP_054218114             588 aa            linear   PRI 20-MAR-2023
DEFINITION  FRAS1-related extracellular matrix protein 1 isoform X20 [Homo
            sapiens].
ACCESSION   XP_054218114
VERSION     XP_054218114.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362139.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..588
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..588
                     /product="FRAS1-related extracellular matrix protein 1
                     isoform X20"
                     /calculated_mol_wt=65759
     CDS             1..588
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /coded_by="XM_054362139.1:949..2715"
                     /db_xref="GeneID:158326"
                     /db_xref="HGNC:HGNC:23399"
                     /db_xref="MIM:608944"
ORIGIN      
        1 meslaltqac iwmvtqesml kaalplftrf iisnglrteh gvfeitletv dralpvvtrn
       61 kglrlaqgav gllspdllql tdpdtpaenl tfllvqlpqh gqlylwgtgl lqhnftqqdv
      121 dsknvayrhs ggdsqtdcft fmatdgtnqg fivngrvwee pvlftiqvdq ldktapritl
      181 lhspsqvgll kngcygiyit srvlkasdpd teddqiifki lqgpkhghle ntttgefihe
      241 kfsqkdlnsk tilyiinpsl evnsdtvefq imdptgnsat pqilelkwsh iewsqteyev
      301 cenvgllple iirrgysmds afvgikvnqv saavgkdftv ipskliqfdp gqchpsyssn
      361 qskhstwekg iwhllppgss ssttsgsfhl errplpssmq lavirgdtlr gfdstdlsqr
      421 klrtrgngkt vrpssvyrng tdiiynyhgi vslkleddsf pthkrkakvs iisqpqktik
      481 vaelpqadkv esttdshfpr qdqlpsfpkn ctlelkglfh feegiqklyq cngiawkaws
      541 pqtkipgqpc ncilqaahav alghwwekvl ldrferpsac wplgvdrw
//
LOCUS       XP_054218218             389 aa            linear   PRI 20-MAR-2023
DEFINITION  ELAV-like protein 2 isoform X7 [Homo sapiens].
ACCESSION   XP_054218218
VERSION     XP_054218218.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362243.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..389
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..389
                     /product="ELAV-like protein 2 isoform X7"
                     /calculated_mol_wt=42502
     CDS             1..389
                     /gene="ELAVL2"
                     /gene_synonym="HEL-N1; HELN1; HUB"
                     /coded_by="XM_054362243.1:90..1259"
                     /db_xref="GeneID:1993"
                     /db_xref="HGNC:HGNC:3313"
                     /db_xref="MIM:601673"
ORIGIN      
        1 mavrlcdvas llrsgswaae pwtgqviaam etqlsngptc nntangptti nnncsspvds
       61 gntedsktnl ivnylpqnmt qeelkslfgs igeiescklv rdkitgqslg ygfvnyidpk
      121 daekaintln glrlqtktik vsyarpssas irdanlyvsg lpktmtqkel eqlfsqygri
      181 itsrilvdqv tgisrgvgfi rfdkrieaee aikglngqkp pgatepitvk fannpsqktn
      241 qailsqlyqs pnrrypgpla qqaqrfrldn llnmaygvks rfspmtidgm tslaginipg
      301 hpgtgwcifv ynlapdades ilwqmfgpfg avtnvkvird fntnkckgfg fvtmtnydea
      361 amaiaslngy rlgdrvlqvs fktnkthka
//
LOCUS       NP_001374746             290 aa            linear   PRI 22-MAR-2023
DEFINITION  muscleblind-like protein 1 isoform 17 [Homo sapiens].
ACCESSION   NP_001374746
VERSION     NP_001374746.1
DBSOURCE    REFSEQ: accession NM_001387817.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 290)
  AUTHORS   Tahraoui-Bories J, Merien A, Gonzalez-Barriga A, Laine J, Leteur C,
            Polveche H, Carteron A, De Lamotte JD, Nicoleau C, Polentes J,
            Jarrige M, Gomes-Pereira M, Ventre E, Poydenot P, Furling D,
            Schaeffer L, Legay C and Martinat C.
  TITLE     MBNL-dependent impaired development within the neuromuscular system
            in myotonic dystrophy type 1
  JOURNAL   Neuropathol Appl Neurobiol 49 (1), e12876 (2023)
   PUBMED   36575942
  REMARK    GeneRIF: MBNL-dependent impaired development within the
            neuromuscular system in myotonic dystrophy type 1.
REFERENCE   2  (residues 1 to 290)
  AUTHORS   Gonzalez AL, Fernandez-Remacha D, Borrell JI, Teixido J and
            Estrada-Tejedor R.
  TITLE     Cognate RNA-Binding Modes by the Alternative-Splicing Regulator
            MBNL1 Inferred from Molecular Dynamics
  JOURNAL   Int J Mol Sci 23 (24), 16147 (2022)
   PUBMED   36555788
  REMARK    GeneRIF: Cognate RNA-Binding Modes by the Alternative-Splicing
            Regulator MBNL1 Inferred from Molecular Dynamics.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 290)
  AUTHORS   Li H, Liu P, Li D, Wang Z, Ding Z, Zhou M, Chen X, Miao M, Ding J,
            Lin W, Liu Y and Zha X.
  TITLE     STAT3/miR-130b-3p/MBNL1 feedback loop regulated by mTORC1 signaling
            promotes angiogenesis and tumor growth
  JOURNAL   J Exp Clin Cancer Res 41 (1), 297 (2022)
   PUBMED   36217202
  REMARK    GeneRIF: STAT3/miR-130b-3p/MBNL1 feedback loop regulated by mTORC1
            signaling promotes angiogenesis and tumor growth.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 290)
  AUTHORS   Zhao Y, Song J, Dong W, Liu X, Yang C, Wang D, Xue Y, Ruan X, Liu
            L, Wang P, Zhang M and Liu Y.
  TITLE     The MBNL1/circNTRK2/PAX5 pathway regulates aerobic glycolysis in
            glioblastoma cells by encoding a novel protein NTRK2-243aa
  JOURNAL   Cell Death Dis 13 (9), 767 (2022)
   PUBMED   36064939
  REMARK    GeneRIF: The MBNL1/circNTRK2/PAX5 pathway regulates aerobic
            glycolysis in glioblastoma cells by encoding a novel protein
            NTRK2-243aa.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 290)
  AUTHORS   Liang C, Chang Z, Luo Y, Xu Y, Chen A and Zhang T.
  TITLE     MBNL1 and MRTF-A form a positive feedback loop in regulating the
            migration of esophageal cancer cells
  JOURNAL   J Cancer Res Ther 18 (5), 1312-1319 (2022)
   PUBMED   36204878
  REMARK    GeneRIF: MBNL1 and MRTF-A form a positive feedback loop in
            regulating the migration of esophageal cancer cells.
REFERENCE   6  (residues 1 to 290)
  AUTHORS   Kino Y, Mori D, Oma Y, Takeshita Y, Sasagawa N and Ishiura S.
  TITLE     Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats
  JOURNAL   Hum Mol Genet 13 (5), 495-507 (2004)
   PUBMED   14722159
REFERENCE   7  (residues 1 to 290)
  AUTHORS   Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS
            and Brook JD.
  TITLE     Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with
            nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
  JOURNAL   Hum Mol Genet 11 (7), 805-814 (2002)
   PUBMED   11929853
REFERENCE   8  (residues 1 to 290)
  AUTHORS   Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M,
            Henderson D, Schalling M, Swanson MS and Thornton CA.
  TITLE     Muscleblind localizes to nuclear foci of aberrant RNA in myotonic
            dystrophy types 1 and 2
  JOURNAL   Hum Mol Genet 10 (19), 2165-2170 (2001)
   PUBMED   11590133
REFERENCE   9  (residues 1 to 290)
  AUTHORS   Fardaei M, Larkin K, Brook JD and Hamshere MG.
  TITLE     In vivo co-localisation of MBNL protein with DMPK expanded-repeat
            transcripts
  JOURNAL   Nucleic Acids Res 29 (13), 2766-2771 (2001)
   PUBMED   11433021
REFERENCE   10 (residues 1 to 290)
  AUTHORS   Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ,
            Thornton CA and Swanson MS.
  TITLE     Recruitment of human muscleblind proteins to (CUG)(n) expansions
            associated with myotonic dystrophy
  JOURNAL   EMBO J 19 (17), 4439-4448 (2000)
   PUBMED   10970838
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC106722.5 and AC026347.17.
            
            Summary: This gene encodes a member of the muscleblind protein
            family which was initially described in Drosophila melanogaster.
            The encoded protein is a C3H-type zinc finger protein that
            modulates alternative splicing of pre-mRNAs. Muscleblind proteins
            bind specifically to expanded dsCUG RNA but not to normal size CUG
            repeats and may thereby play a role in the pathophysiology of
            myotonic dystrophy. Mice lacking this gene exhibited muscle
            abnormalities and cataracts. Several alternatively spliced
            transcript variants have been described but the full-length natures
            of only some have been determined. The different isoforms are
            thought to have different binding specificities and/or splicing
            activities. [provided by RefSeq, Sep 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR18074968.260569.1, SRR14038197.1328603.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1965299, SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..290
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.1-q25.2"
     Protein         1..290
                     /product="muscleblind-like protein 1 isoform 17"
                     /note="triplet-expansion RNA-binding protein;
                     muscleblind-like"
                     /calculated_mol_wt=30320
     Region          89..113
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     Region          126..148
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     CDS             1..290
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /coded_by="NM_001387817.1:1078..1950"
                     /note="isoform 17 is encoded by transcript variant 87"
                     /db_xref="GeneID:4154"
                     /db_xref="HGNC:HGNC:6923"
                     /db_xref="MIM:606516"
ORIGIN      
        1 mamlaqqmql anammpgapl qpvpmfsvap slatnasaaa fnpylgpvsp slvpaeilpt
       61 apmlvtgnpg vpvpaaaaaa aqklmrtdrl evcreyqrgn cnrgendcrf ahpadstmid
      121 tndntvtvcm dyikgrcsre kckyfhppah lqakikaaqy qvnqaaaaqa aataaamgip
      181 qavlpplpkr palektngat avfntgifqy qqalanmqlq qhtaflppgs ilcmtpatsv
      241 vpmvhgatpa tvsaattsat svpfaatata nqipiisaeh ltshkyvtqm
//
LOCUS       NP_000524                277 aa            linear   PRI 22-MAR-2023
DEFINITION  myelin proteolipid protein isoform 1 [Homo sapiens].
ACCESSION   NP_000524
VERSION     NP_000524.3
DBSOURCE    REFSEQ: accession NM_000533.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 277)
  AUTHORS   Yao L, Zhu Z, Zhang C, Tian W and Cao L.
  TITLE     PLP1 gene mutations cause spastic paraplegia type 2 in three
            families
  JOURNAL   Ann Clin Transl Neurol 10 (3), 328-338 (2023)
   PUBMED   36622199
  REMARK    GeneRIF: PLP1 gene mutations cause spastic paraplegia type 2 in
            three families.
REFERENCE   2  (residues 1 to 277)
  AUTHORS   Sarret C, Combes P, Micheau P, Gelot A, Boespflug-Tanguy O and
            Vaurs-Barriere C.
  TITLE     Novel neuronal proteolipid protein isoforms encoded by the human
            myelin proteolipid protein 1 gene
  JOURNAL   Neuroscience 166 (2), 522-538 (2010)
   PUBMED   20036320
  REMARK    GeneRIF: These results suggest for the first time that PLP may have
            functions in humans not only in oligodendrocytes but also in
            neurons and could be implicated in axono-glial communication
REFERENCE   3  (residues 1 to 277)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   4  (residues 1 to 277)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   5  (residues 1 to 277)
  AUTHORS   Wolf,N.I., van Spaendonk,R.M.L., Hobson,G.M. and Kamholz,J.
  TITLE     PLP1 Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301361
REFERENCE   6  (residues 1 to 277)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   7  (residues 1 to 277)
  AUTHORS   Pratt VM, Trofatter JA, Larsen MB, Hodes ME and Dlouhy SR.
  TITLE     New variant in exon 3 of the proteolipid protein (PLP) gene in a
            family with Pelizaeus-Merzbacher disease
  JOURNAL   Am J Med Genet 43 (3), 642-646 (1992)
   PUBMED   1376553
REFERENCE   8  (residues 1 to 277)
  AUTHORS   Simons,R., Alon,N. and Riordan,J.R.
  TITLE     Human myelin DM-20 proteolipid protein deletion defined by cDNA
            sequence
  JOURNAL   Biochem Biophys Res Commun 146 (2), 666-671 (1987)
   PUBMED   2441695
REFERENCE   9  (residues 1 to 277)
  AUTHORS   Kronquist KE, Crandall BF, Macklin WB and Campagnoni AT.
  TITLE     Expression of myelin proteins in the developing human spinal cord:
            cloning and sequencing of human proteolipid protein cDNA
  JOURNAL   J Neurosci Res 18 (3), 395-401 (1987)
   PUBMED   2449536
REFERENCE   10 (residues 1 to 277)
  AUTHORS   Diehl,H.J., Schaich,M., Budzinski,R.M. and Stoffel,W.
  TITLE     Individual exons encode the integral membrane domains of human
            myelin proteolipid protein
  JOURNAL   Proc Natl Acad Sci U S A 83 (24), 9807-9811 (1986)
   PUBMED   3467339
  REMARK    Erratum:[Hum Genet. 1991 Apr;86(6):617-8. PMID: 1709135]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA299940.1, AK292728.1 and
            BC095452.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 26, 2004 this sequence version replaced NP_000524.2.
            
            Summary: This gene encodes a transmembrane proteolipid protein that
            is the predominant component of myelin. The encoded protein may
            play a role in the compaction, stabilization, and maintenance of
            myelin sheaths, as well as in oligodendrocyte development and
            axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher
            disease and spastic paraplegia type 2. Alternatively splicing
            results in multiple transcript variants, including the DM20 splice
            variant. [provided by RefSeq, Feb 2015].
            
            Transcript Variant: This variant (1, also known as PLP) encodes the
            longest isoform (1). Variants 1 and 3 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1043899.1,
                                           SRR3476690.844864.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000621218.5/ ENSP00000484450.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..277
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.2"
     Protein         1..277
                     /product="myelin proteolipid protein isoform 1"
                     /note="lipophilin; myelin proteolipid protein; major
                     myelin proteolipid protein"
                     /calculated_mol_wt=29946
     Region          5..273
                     /region_name="Myelin_PLP"
                     /note="Myelin proteolipid protein (PLP or lipophilin);
                     pfam01275"
                     /db_xref="CDD:426173"
     Site            10..36
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P60201.2)"
     Site            64..88
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P60201.2)"
     Site            114
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P60203; propagated from
                     UniProtKB/Swiss-Prot (P60201.2)"
     Site            116
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P60203; propagated from
                     UniProtKB/Swiss-Prot (P60201.2)"
     Site            118
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P60203; propagated from
                     UniProtKB/Swiss-Prot (P60201.2)"
     Site            152..177
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P60201.2)"
     Site            234..260
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P60201.2)"
     CDS             1..277
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD;
                     SPG2"
                     /coded_by="NM_000533.5:157..990"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS14513.1"
                     /db_xref="GeneID:5354"
                     /db_xref="HGNC:HGNC:9086"
                     /db_xref="MIM:300401"
ORIGIN      
        1 mglleccarc lvgapfaslv atglcffgva lfcgcgheal tgtekliety fsknyqdyey
       61 linvihafqy viygtasfff lygalllaeg fyttgavrqi fgdyktticg kglsatvtgg
      121 qkgrgsrgqh qahslervch clgkwlghpd kfvgityalt vvwllvfacs avpvyiyfnt
      181 wttcqsiafp sktsasigsl cadarmygvl pwnafpgkvc gsnllsickt aefqmtfhlf
      241 iaafvgaaat lvslltfmia atynfavlkl mgrgtkf
//
LOCUS       NP_060758                498 aa            linear   PRI 25-MAR-2023
DEFINITION  PHD finger protein 10 isoform a [Homo sapiens].
ACCESSION   NP_060758
VERSION     NP_060758.2
DBSOURCE    REFSEQ: accession NM_018288.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 498)
  AUTHORS   Huang C, Zhou S, Zhang C, Jin Y, Xu G, Zhou L, Ding G, Pang T, Jia
            S and Cao L.
  TITLE     ZC3H13-mediated N6-methyladenosine modification of PHF10 is
            impaired by fisetin which inhibits the DNA damage response in
            pancreatic cancer
  JOURNAL   Cancer Lett 530, 16-28 (2022)
   PUBMED   35033590
  REMARK    GeneRIF: ZC3H13-mediated N6-methyladenosine modification of PHF10
            is impaired by fisetin which inhibits the DNA damage response in
            pancreatic cancer.
REFERENCE   2  (residues 1 to 498)
  AUTHORS   Soshnikova NV, Tatarskiy EV, Tatarskiy VV, Klimenko NS, Shtil AA,
            Nikiforov MA and Georgieva SG.
  TITLE     PHF10 subunit of PBAF complex mediates transcriptional activation
            by MYC
  JOURNAL   Oncogene 40 (42), 6071-6080 (2021)
   PUBMED   34465901
  REMARK    GeneRIF: PHF10 subunit of PBAF complex mediates transcriptional
            activation by MYC.
REFERENCE   3  (residues 1 to 498)
  AUTHORS   Sheynov AA, Tatarskiy VV Jr, Tatarskiy EV, Nabirochkina EN,
            Georgieva SG and Soshnikova NV.
  TITLE     The sequential phosphorylation of PHF10 subunit of the PBAF
            chromatin-remodeling complex determines different properties of the
            PHF10 isoforms
  JOURNAL   Biol Open 9 (1) (2020)
   PUBMED   31911482
  REMARK    GeneRIF: The sequential phosphorylation of PHF10 subunit of the
            PBAF chromatin-remodeling complex determines different properties
            of the PHF10 isoforms.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 498)
  AUTHORS   Tatarskiy EV, Georgiev GP and Soshnikova NV.
  TITLE     Oncogene c-MYC Controls the Expression of PHF10 Subunit of PBAF
            Chromatin Remodeling Complex in SW620 Cell Line
  JOURNAL   Dokl Biochem Biophys 484 (1), 66-68 (2019)
   PUBMED   31012017
  REMARK    GeneRIF: PHF10 expression in cells of different lines is activated
            by the c-MYC oncogene. Since PHF10 stimulates cell proliferation,
            its c-MYC-dependent activation in cancer cells should lead to an
            increase in their proliferation rate.
REFERENCE   5  (residues 1 to 498)
  AUTHORS   Tatarskiy VV, Simonov YP, Shcherbinin DS, Brechalov AV, Georgieva
            SG and Soshnikova NV.
  TITLE     Stability of the PHF10 subunit of PBAF signature module is
            regulated by phosphorylation: role of beta-TrCP
  JOURNAL   Sci Rep 7 (1), 5645 (2017)
   PUBMED   28717195
  REMARK    GeneRIF: Data show that PHF10 subunit of the PBAF signature module
            is the most unstable PBAF subunit, and demonstrate an important
            role of beta-TrCP ubiquitin ligase in regulation of PHF10 level and
            PBAF in general. Also, PHF10 isoforms contained two non-canonical
            beta-TrCP degrons and are degraded by beta-TrCP in a
            phospho-dependent manner.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 498)
  AUTHORS   Zhang HS, Gavin M, Dahiya A, Postigo AA, Ma D, Luo RX, Harbour JW
            and Dean DC.
  TITLE     Exit from G1 and S phase of the cell cycle is regulated by
            repressor complexes containing HDAC-Rb-hSWI/SNF and Rb-hSWI/SNF
  JOURNAL   Cell 101 (1), 79-89 (2000)
   PUBMED   10778858
REFERENCE   7  (residues 1 to 498)
  AUTHORS   Phelan ML, Sif S, Narlikar GJ and Kingston RE.
  TITLE     Reconstitution of a core chromatin remodeling complex from SWI/SNF
            subunits
  JOURNAL   Mol Cell 3 (2), 247-253 (1999)
   PUBMED   10078207
REFERENCE   8  (residues 1 to 498)
  AUTHORS   Reyes JC, Muchardt C and Yaniv M.
  TITLE     Components of the human SWI/SNF complex are enriched in active
            chromatin and are associated with the nuclear matrix
  JOURNAL   J Cell Biol 137 (2), 263-274 (1997)
   PUBMED   9128241
REFERENCE   9  (residues 1 to 498)
  AUTHORS   Rogner UC, Heiss NS, Kioschis P, Wiemann S, Korn B and Poustka A.
  TITLE     Transcriptional analysis of the candidate region for incontinentia
            pigmenti (IP2) in Xq28
  JOURNAL   Genome Res 6 (10), 922-934 (1996)
   PUBMED   8908511
REFERENCE   10 (residues 1 to 498)
  AUTHORS   Wang W, Xue Y, Zhou S, Kuo A, Cairns BR and Crabtree GR.
  TITLE     Diversity and specialization of mammalian SWI/SNF complexes
  JOURNAL   Genes Dev 10 (17), 2117-2130 (1996)
   PUBMED   8804307
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL513547.16, DB460742.1 and
            BC110323.1.
            On Jul 19, 2008 this sequence version replaced NP_060758.1.
            
            Summary: This gene contains a predicted ORF that encodes a protein
            with two zinc finger domains. The function of the encoded protein
            is not known. Sequence analysis suggests that multiple
            alternatively spliced transcript variants are derived from this
            gene but the full-length nature of only two of them is known. These
            two splice variants encode different isoforms. A pseudogene for
            this gene is located on Xq28. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC110323.1, SRR14038194.1711174.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000339209.9/
                                                ENSP00000341805.4
            RefSeq Select criteria           :: based on conservation,
                                                expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..498
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q27"
     Protein         1..498
                     /product="PHD finger protein 10 isoform a"
                     /note="PHD zinc finger protein XAP135; BRG1-associated
                     factor, 45-KD, A; BRG1-associated factor 45a"
                     /calculated_mol_wt=55920
     Region          1..62
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUB8.3)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8WUB8.3)"
     Site            12
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8WUB8.3)"
     Site            36
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8WUB8.3)"
     Site            50
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8WUB8.3)"
     Region          73..161
                     /region_name="WH_NTD_PHF10"
                     /note="N-terminal winged helix DNA-binding domain found in
                     PHD finger protein 10 (PHF10) and similar proteins;
                     cd21085"
                     /db_xref="CDD:411035"
     Region          89..295
                     /region_name="SAY"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUB8.3)"
     Region          89..185
                     /region_name="Essential to induce neural progenitor
                     proliferation. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUB8.3)"
     Site            270
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8WUB8.3)"
     Region          285..368
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUB8.3)"
     Region          292..334
                     /region_name="Essential to induce neural progenitor
                     proliferation. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUB8.3)"
     Site            297
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8WUB8.3)"
     Site            301
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8WUB8.3)"
     Site            327
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8WUB8.3)"
     Site            331
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D8M7; propagated from
                     UniProtKB/Swiss-Prot (Q8WUB8.3)"
     Region          379..433
                     /region_name="PHD1_PHF10"
                     /note="PHD finger 1 found in PHD finger protein 10 (PHF10)
                     and similar proteins; cd15528"
                     /db_xref="CDD:277003"
     Site            order(379,397..401,405,428)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277003"
     Region          435..478
                     /region_name="PHD2_PHF10"
                     /note="PHD finger 2 found in PHD finger protein 10 (PHF10)
                     and similar proteins; cd15529"
                     /db_xref="CDD:277004"
     Site            order(435,447..451,455,473)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277004"
     CDS             1..498
                     /gene="PHF10"
                     /gene_synonym="BAF45A; SMARCG4; XAP135"
                     /coded_by="NM_018288.4:570..2066"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5308.2"
                     /db_xref="GeneID:55274"
                     /db_xref="HGNC:HGNC:18250"
                     /db_xref="MIM:613069"
ORIGIN      
        1 maaaagpgaa lsprpcdsdp atpgaqspkd dnednsndgt qpskrrrmgs gdssrscets
       61 sqdlgfsyyp aenlieykwp pdetgeyyml qeqvseylgv tsfkrkypdl errdlshkek
      121 lylrelnvit etqctlglta lrsdevidlm ikeypakhae ysvilqeker qritdhykey
      181 sqmqqqntqk veaskvpeyi kkaakkaaef nsnlnrerme errayfdlqt hviqvpqgky
      241 kvlptertkv ssypvalipg qfqeyykrys pdelrylpln talyeppldp elpaldsdgd
      301 sddgedgrgd ekrknkgtsd sssgnvsege sppdsqedsf qgrqkskdka atprkdgpkr
      361 svlsksvpgy kpkvipnaic giclkgkesn kkgkaeslih csqcensghp scldmtmelv
      421 smiktypwqc mecktciicg qphheeemmf cdmcdrgyht fcvglgaips grwicdccqr
      481 apptprkvgr rgknskeg
//
LOCUS       NP_003322               1187 aa            linear   PRI 03-APR-2023
DEFINITION  non-receptor tyrosine-protein kinase TYK2 isoform 2 [Homo sapiens].
ACCESSION   NP_003322
VERSION     NP_003322.3
DBSOURCE    REFSEQ: accession NM_003331.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1187)
  AUTHORS   Zabihi Rizi F, Ghorbani A, Zahtab P, Darbaghshahi NN, Ataee N,
            Pourhamzeh P, Hamzei B, Dolatabadi NF, Zamani A and Hooshmand M.
  TITLE     TYK2 single-nucleotide variants associated with the severity of
            COVID-19 disease
  JOURNAL   Arch Virol 168 (4), 119 (2023)
   PUBMED   36959416
  REMARK    GeneRIF: TYK2 single-nucleotide variants associated with the
            severity of COVID-19 disease.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1187)
  AUTHORS   Rusinol L and Puig L.
  TITLE     Tyk2 Targeting in Immune-Mediated Inflammatory Diseases
  JOURNAL   Int J Mol Sci 24 (4), 3391 (2023)
   PUBMED   36834806
  REMARK    GeneRIF: Tyk2 Targeting in Immune-Mediated Inflammatory Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1187)
  AUTHORS   Loo WJ, Turchin I, Prajapati VH, Gooderham MJ, Grewal P, Hong CH,
            Sauder M, Vender RB, Maari C and Papp KA.
  TITLE     Clinical Implications of Targeting the JAK-STAT Pathway in
            Psoriatic Disease: Emphasis on the TYK2 Pathway
  JOURNAL   J Cutan Med Surg 27 (1_suppl), 3S-24S (2023)
   PUBMED   36519621
  REMARK    GeneRIF: Clinical Implications of Targeting the JAK-STAT Pathway in
            Psoriatic Disease: Emphasis on the TYK2 Pathway.
            Review article
REFERENCE   4  (residues 1 to 1187)
  AUTHORS   Dieter C, de Almeida Brondani L, Lemos NE, Schaeffer AF, Zanotto C,
            Ramos DT, Girardi E, Pellenz FM, Camargo JL, Moresco KS, da Silva
            LL, Aubin MR, de Oliveira MS, Rech TH, Canani LH, Gerchman F,
            Leitao CB and Crispim D.
  TITLE     Polymorphisms in ACE1, TMPRSS2, IFIH1, IFNAR2, and TYK2 Genes Are
            Associated with Worse Clinical Outcomes in COVID-19
  JOURNAL   Genes (Basel) 14 (1), 29 (2022)
   PUBMED   36672770
  REMARK    GeneRIF: Polymorphisms in ACE1, TMPRSS2, IFIH1, IFNAR2, and TYK2
            Genes Are Associated with Worse Clinical Outcomes in COVID-19.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1187)
  AUTHORS   Chandra V, Ibrahim H, Halliez C, Prasad RB, Vecchio F, Dwivedi OP,
            Kvist J, Balboa D, Saarimaki-Vire J, Montaser H, Barsby T,
            Lithovius V, Artner I, Gopalakrishnan S, Groop L, Mallone R,
            Eizirik DL and Otonkoski T.
  TITLE     The type 1 diabetes gene TYK2 regulates beta-cell development and
            its responses to interferon-alpha
  JOURNAL   Nat Commun 13 (1), 6363 (2022)
   PUBMED   36289205
  REMARK    GeneRIF: The type 1 diabetes gene TYK2 regulates beta-cell
            development and its responses to interferon-alpha.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1187)
  AUTHORS   Shuai K, Horvath CM, Huang LH, Qureshi SA, Cowburn D and Darnell JE
            Jr.
  TITLE     Interferon activation of the transcription factor Stat91 involves
            dimerization through SH2-phosphotyrosyl peptide interactions
  JOURNAL   Cell 76 (5), 821-828 (1994)
   PUBMED   7510216
REFERENCE   7  (residues 1 to 1187)
  AUTHORS   Velazquez L, Fellous M, Stark GR and Pellegrini S.
  TITLE     A protein tyrosine kinase in the interferon alpha/beta signaling
            pathway
  JOURNAL   Cell 70 (2), 313-322 (1992)
   PUBMED   1386289
REFERENCE   8  (residues 1 to 1187)
  AUTHORS   Partanen J, Makela TP, Alitalo R, Lehvaslaiho H and Alitalo K.
  TITLE     Putative tyrosine kinases expressed in K-562 human leukemia cells
  JOURNAL   Proc Natl Acad Sci U S A 87 (22), 8913-8917 (1990)
   PUBMED   2247464
REFERENCE   9  (residues 1 to 1187)
  AUTHORS   Firmbach-Kraft I, Byers M, Shows T, Dalla-Favera R and Krolewski
            JJ.
  TITLE     tyk2, prototype of a novel class of non-receptor tyrosine kinase
            genes
  JOURNAL   Oncogene 5 (9), 1329-1336 (1990)
   PUBMED   2216457
REFERENCE   10 (residues 1 to 1187)
  AUTHORS   Krolewski JJ, Lee R, Eddy R, Shows TB and Dalla-Favera R.
  TITLE     Identification and chromosomal mapping of new human tyrosine kinase
            genes
  JOURNAL   Oncogene 5 (3), 277-282 (1990)
   PUBMED   2156206
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA864169.1, BC014243.2 and
            AK308360.1.
            On May 7, 2008 this sequence version replaced NP_003322.2.
            
            Summary: This gene encodes a member of the tyrosine kinase and,
            more specifically, the Janus kinases (JAKs) protein families. This
            protein associates with the cytoplasmic domain of type I and type
            II cytokine receptors and promulgate cytokine signals by
            phosphorylating receptor subunits. It is also a component of both
            the type I and type III interferon signaling pathways. As such, it
            may play a role in anti-viral immunity. A mutation in this gene has
            been associated with Immunodeficiency 35. [provided by RefSeq, Sep
            2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: MN842724.1, BC014243.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: involved in immune response or antiviral
                                      activity
            MANE Ensembl match     :: ENST00000525621.6/ ENSP00000431885.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1187
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     Protein         1..1187
                     /product="non-receptor tyrosine-protein kinase TYK2
                     isoform 2"
                     /EC_number="2.7.10.2"
                     /note="non-receptor tyrosine-protein kinase TYK2"
                     /calculated_mol_wt=133519
     Region          28..125
                     /region_name="FERM_F1"
                     /note="FERM F1 ubiquitin-like domain; pfam18379"
                     /db_xref="CDD:436452"
     Region          143..266
                     /region_name="FERM_F2"
                     /note="FERM F2 acyl-CoA binding protein-like domain;
                     pfam18377"
                     /db_xref="CDD:436450"
     Region          285..432
                     /region_name="Jak1_Phl"
                     /note="Jak1 pleckstrin homology-like domain; pfam17887"
                     /db_xref="CDD:436118"
     Site            292
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P29597.3)"
     Region          335..366
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P29597.3)"
     Region          437..534
                     /region_name="SH2"
                     /note="Src homology 2 (SH2) domain; cl15255"
                     /db_xref="CDD:449520"
     Site            order(457,474,504,506)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198173"
     Site            499
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P29597.3)"
     Site            order(505,532)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198173"
     Site            525
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R117; propagated from
                     UniProtKB/Swiss-Prot (P29597.3)"
     Region          589..867
                     /region_name="PTK_Tyk2_rpt1"
                     /note="Pseudokinase (repeat 1) domain of the Protein
                     Tyrosine Kinase, Tyrosine kinase 2; cd05076"
                     /db_xref="CDD:270661"
     Site            604
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q9R117; propagated from
                     UniProtKB/Swiss-Prot (P29597.3)"
     Region          610..629
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P29597.3)"
     Site            884
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P29597.3)"
     Region          892..1174
                     /region_name="PTKc_Tyk2_rpt2"
                     /note="Catalytic (repeat 2) domain of the Protein Tyrosine
                     Kinase, Tyrosine kinase 2; cd05080"
                     /db_xref="CDD:270664"
     Site            order(903..904,906,911,928,930,960,978..982,984,1023,
                     1027..1028,1030,1040..1041,1060..1064,1073,1121)
                     /site_type="active"
                     /db_xref="CDD:270664"
     Site            order(903..904,906,911,928,930,960,978..982,984,
                     1027..1028,1030,1040..1041)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270664"
     Site            order(1023,1027,1060..1064,1073,1121)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270664"
     Site            1040..1066
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270664"
     Site            1054
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:20478313,
                     ECO:0000269|PubMed:8702790; propagated from
                     UniProtKB/Swiss-Prot (P29597.3)"
     Site            1055
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:8702790; propagated from
                     UniProtKB/Swiss-Prot (P29597.3)"
     CDS             1..1187
                     /gene="TYK2"
                     /gene_synonym="IMD35; JTK1"
                     /coded_by="NM_003331.5:379..3942"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS12236.1"
                     /db_xref="GeneID:7297"
                     /db_xref="HGNC:HGNC:12440"
                     /db_xref="MIM:176941"
ORIGIN      
        1 mplrhwgmar gskpvgdgaq pmaamgglkv llhwagpggg epwvtfsess ltaeevcihi
       61 ahkvgitppc fnlfalfdaq aqvwlppnhi leiprdaslm lyfrirfyfr nwhgmnprep
      121 avyrcgppgt eassdqtaqg mqlldpasfe ylfeqgkhef vndvaslwel steeeihhfk
      181 neslgmaflh lchlalrhgi pleevakkts fkdciprsfr rhirqhsalt rlrlrnvfrr
      241 flrdfqpgrl sqqmvmvkyl atlerlaprf gtervpvchl rllaqaegep cyirdsgvap
      301 tdpgpesaag ppthevlvtg tggiqwwpve eevnkeegss gssgrnpqas lfgkkakahk
      361 avgqpadrpr eplwayfcdf rdithvvlke hcvsihrqdn kclelslpsr aaalsfvslv
      421 dgyfrltads shylchevap prlvmsirdg ihgpllepfv qaklrpedgl ylihwstshp
      481 yrliltvaqr sqapdgmqsl rlrkfpieqq dgafvlegwg rsfpsvrelg aalqgcllra
      541 gddcfslrrc clpqpgetsn liimrgaras prtlnlsqls fhrvdqkeit qlshlgqgtr
      601 tnvyegrlrv egsgdpeegk mddedplvpg rdrgqelrvv lkvldpshhd ialafyetas
      661 lmsqvshthl afvhgvcvrg penimvteyv ehgpldvwlr rerghvpmaw kmvvaqqlas
      721 alsylenknl vhgnvcgrni llarlglaeg tspfiklsdp gvglgalsre erveripwla
      781 peclpggans lstamdkwgf gatlleicfd geaplqsrsp sekehfyqrq hrlpepscpq
      841 latltsqclt yeptqrpsfr tilrdltrlq phnladvltv npdspasdpt vfhkrylkki
      901 rdlgeghfgk vslycydptn dgtgemvavk alkadcgpqh rsgwkqeidi lrtlyhehii
      961 kykgccedqg ekslqlvmey vplgslrdyl prhsiglaql llfaqqiceg maylhaqhyi
     1021 hrdlaarnvl ldndrlvkig dfglakavpe gheyyrvred gdspvfwyap eclkeykfyy
     1081 asdvwsfgvt lyellthcds sqspptkfle ligiaqgqmt vlrlteller gerlprpdkc
     1141 pcevyhlmkn cweteasfrp tfenlipilk tvhekyqgqa psvfsvc
//
LOCUS       NP_001018077             408 aa            linear   PRI 05-APR-2023
DEFINITION  plasminogen activator inhibitor 1 RNA-binding protein isoform 1
            [Homo sapiens].
ACCESSION   NP_001018077
VERSION     NP_001018077.1
DBSOURCE    REFSEQ: accession NM_001018067.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 408)
  AUTHORS   Shetty S, Hofstetter J, Battaglioni S, Ritz D and Hall MN.
  TITLE     TORC1 phosphorylates and inhibits the ribosome preservation factor
            Stm1 to activate dormant ribosomes
  JOURNAL   EMBO J 42 (5), e112344 (2023)
   PUBMED   36691768
REFERENCE   2  (residues 1 to 408)
  AUTHORS   Shan B, Qu S, Lv S, Fan D and Wang S.
  TITLE     YY1-induced long non-coding RNA small nucleolar RNA host gene 8
            promotes the tumorigenesis of melanoma via the
            microRNA-656-3p/SERPINE1 mRNA binding protein 1 axis
  JOURNAL   Bioengineered 13 (3), 4832-4843 (2022)
   PUBMED   35156513
  REMARK    GeneRIF: YY1-induced long non-coding RNA small nucleolar RNA host
            gene 8 promotes the tumorigenesis of melanoma via the
            microRNA-656-3p/SERPINE1 mRNA binding protein 1 axis.
REFERENCE   3  (residues 1 to 408)
  AUTHORS   Zhang D, Zhang Y, Zhang X, Zhai H, Sun X and Li Y.
  TITLE     Circ_0046600 promotes hepatocellular carcinoma progression via
            up-regulating SERBP1 through sequestering miR-1258
  JOURNAL   Pathol Res Pract 228, 153681 (2021)
   PUBMED   34784519
  REMARK    GeneRIF: Circ_0046600 promotes hepatocellular carcinoma progression
            via up-regulating SERBP1 through sequestering miR-1258.
REFERENCE   4  (residues 1 to 408)
  AUTHORS   Martini S, Davis K, Faraway R, Elze L, Lockwood N, Jones A, Xie X,
            McDonald NQ, Mann DJ, Armstrong A, Ule J and Parker PJ.
  TITLE     A genetically-encoded crosslinker screen identifies SERBP1 as a
            PKCepsilon substrate influencing translation and cell division
  JOURNAL   Nat Commun 12 (1), 6934 (2021)
   PUBMED   34836941
  REMARK    GeneRIF: A genetically-encoded crosslinker screen identifies SERBP1
            as a PKCepsilon substrate influencing translation and cell
            division.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 408)
  AUTHORS   Liu X, Xiong Y, Zhang C, Lai R, Liu H, Peng R, Fu T, Liu Q, Fang X,
            Mann S and Tan W.
  TITLE     G-Quadruplex-Induced Liquid-Liquid Phase Separation in Biomimetic
            Protocells
  JOURNAL   J Am Chem Soc 143 (29), 11036-11043 (2021)
   PUBMED   34270902
  REMARK    GeneRIF: G-Quadruplex-Induced Liquid-Liquid Phase Separation in
            Biomimetic Protocells.
REFERENCE   6  (residues 1 to 408)
  AUTHORS   Lemos TA and Kobarg J.
  TITLE     CGI-55 interacts with nuclear proteins and co-localizes to
            p80-coilin positive-coiled bodies in the nucleus
  JOURNAL   Cell Biochem Biophys 44 (3), 463-474 (2006)
   PUBMED   16679534
  REMARK    GeneRIF: We observed that CGI-55 localizes to the nucleolus and
            co-localizes with p80-coilin positive nuclear-coiled bodies.
REFERENCE   7  (residues 1 to 408)
  AUTHORS   Lemos TA, Passos DO, Nery FC and Kobarg J.
  TITLE     Characterization of a new family of proteins that interact with the
            C-terminal region of the chromatin-remodeling factor CHD-3
  JOURNAL   FEBS Lett 533 (1-3), 14-20 (2003)
   PUBMED   12505151
  REMARK    GeneRIF: interacts with the C-terminal region of the human
            chromatin-remodeling factor CHD-3
REFERENCE   8  (residues 1 to 408)
  AUTHORS   Jones K, Powell J, Brown L, Greenhalgh R, Jormsjo S and Eriksson P.
  TITLE     The influence of 4G/5G polymorphism in the plasminogen activator
            inhibitor-1 gene promoter on the incidence, growth and operative
            risk of abdominal aortic aneurysm
  JOURNAL   Eur J Vasc Endovasc Surg 23 (5), 421-425 (2002)
   PUBMED   12027469
  REMARK    GeneRIF: Polymorphism of the PAI-1 gene promoter does not influence
            the development of AAA. However, the effect of PAI-1 genotype
            (5G5G) appears protective on survival following open aneurysm
            repair.
REFERENCE   9  (residues 1 to 408)
  AUTHORS   Buckova D, Izakovicova Holla L and Vacha J.
  TITLE     Polymorphism 4G/5G in the plasminogen activator inhibitor-1 (PAI-1)
            gene is associated with IgE-mediated allergic diseases and asthma
            in the Czech population
  JOURNAL   Allergy 57 (5), 446-448 (2002)
   PUBMED   11972486
  REMARK    GeneRIF: The 4G allele of the 4G/5G polymorphism in the PAI-1 gene
            may be a risk factor for IgE-mediated asthma and allergic diseases.
REFERENCE   10 (residues 1 to 408)
  AUTHORS   Heaton JH, Dlakic WM, Dlakic M and Gelehrter TD.
  TITLE     Identification and cDNA cloning of a novel RNA-binding protein that
            interacts with the cyclic nucleotide-responsive sequence in the
            Type-1 plasminogen activator inhibitor mRNA
  JOURNAL   J Biol Chem 276 (5), 3341-3347 (2001)
   PUBMED   11001948
  REMARK    GeneRIF: This gene encodes a protein, PAI-RBP1, that binds to an
            RNA sequence (cyclic nucleotide responsive sequence, CRS) in the
            plasminogen activator-inhibitor (PAI-1) mRNA that confers cAMP
            regulation of mRNA stability.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590559.3, AK074970.1, BC008045.2 and AL358512.9.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.242761.1,
                                           SRR1803616.37654.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..408
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     Protein         1..408
                     /product="plasminogen activator inhibitor 1 RNA-binding
                     protein isoform 1"
                     /note="chromodomain helicase DNA binding protein 3
                     interacting protein; PAI-1 mRNA binding protein;
                     plasminogen activator inhibitor 1 RNA-binding protein;
                     PAI1 RNA-binding protein 1"
                     /calculated_mol_wt=44834
     Region          5..151
                     /region_name="IHABP4_N"
                     /note="Intracellular hyaluronan-binding protein 4
                     N-terminal; pfam16174"
                     /db_xref="CDD:435189"
     Site            25
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8NC51.2)"
     Region          33..292
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            52
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9CY58; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            68
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            122
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            140
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            165
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9CY58; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            188
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9CY58; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Region          189..313
                     /region_name="HABP4_PAI-RBP1"
                     /note="Hyaluronan / mRNA binding family; pfam04774"
                     /db_xref="CDD:428114"
     Site            197
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6AXS5; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            203
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            205
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            208
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            211
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            216
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            221
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            231
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            234
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     Phosphothreonine. /evidence=ECO:0007744|PubMed:18669648;
                     propagated from UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            237
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            240
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Region          328..408
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            329
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9CY58; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            330
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            364
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            367
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            370
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            392
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NC51.2)"
     Site            394
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8NC51.2)"
     CDS             1..408
                     /gene="SERBP1"
                     /gene_synonym="CGI-55; CHD3IP; HABP4L; PAI-RBP1; PAIRBP1"
                     /coded_by="NM_001018067.2:103..1329"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS30746.1"
                     /db_xref="GeneID:26135"
                     /db_xref="HGNC:HGNC:17860"
                     /db_xref="MIM:607378"
ORIGIN      
        1 mpghlqegfg cvvtnrfdql fddesdpfev lkaaenkkke aggggvggpg aksaaqaaaq
       61 tnsnaagkql rkesqkdrkn plppsvgvvd kkeetqppva lkkegirrvg rrpdqqlqge
      121 gkiidrrper rpprerrfek pleekgegge fsvdrpiidr pirgrgglgr grggrgrgmg
      181 rgdgfdsrgk refdrhsgsd rssfshysgl khedkrggsg shnwgtvkde ltespkyiqk
      241 qisynysdld qsnvteetpe geehhpvadt enkeneveev keegpkemtl dewkaiqnkd
      301 rakvefnirk pnegadgqwk kgfvlhksks eeahaedsvm dhhfrkpand itsqleinfg
      361 dlgrpgrggr ggrggrgrgg rpnrgsrtdk ssasapdvdd peafpala
//
LOCUS       NP_001269138             110 aa            linear   PRI 17-APR-2023
DEFINITION  sigma non-opioid intracellular receptor 1 isoform 10 [Homo
            sapiens].
ACCESSION   NP_001269138
VERSION     NP_001269138.1
DBSOURCE    REFSEQ: accession NM_001282209.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 110)
  AUTHORS   Pascarella G, Antonelli L, Narzi D, Battista T, Fiorillo A, Colotti
            G, Guidoni L, Morea V and Ilari A.
  TITLE     Investigation of the Entry Pathway and Molecular Nature of sigma1
            Receptor Ligands
  JOURNAL   Int J Mol Sci 24 (7), 6367 (2023)
   PUBMED   37047338
  REMARK    GeneRIF: Investigation of the Entry Pathway and Molecular Nature of
            sigma1 Receptor Ligands.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 110)
  AUTHORS   Borde P, Cosgrove N, Charmsaz S, Safrany ST and Young L.
  TITLE     An investigation of Sigma-1 receptor expression and ligand-induced
            endoplasmic reticulum stress in breast cancer
  JOURNAL   Cancer Gene Ther 30 (2), 368-374 (2023)
   PUBMED   36352093
  REMARK    GeneRIF: An investigation of Sigma-1 receptor expression and
            ligand-induced endoplasmic reticulum stress in breast cancer.
            Erratum:[Cancer Gene Ther. 2022 Dec 21;:. PMID: 36539529]
REFERENCE   3  (residues 1 to 110)
  AUTHORS   Munguia-Galaviz FJ, Miranda-Diaz AG, Cardenas-Sosa MA and
            Echavarria R.
  TITLE     Sigma-1 Receptor Signaling: In Search of New Therapeutic
            Alternatives for Cardiovascular and Renal Diseases
  JOURNAL   Int J Mol Sci 24 (3), 1997 (2023)
   PUBMED   36768323
  REMARK    GeneRIF: Sigma-1 Receptor Signaling: In Search of New Therapeutic
            Alternatives for Cardiovascular and Renal Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 110)
  AUTHORS   Lachance V, Belanger SM, Hay C, Le Corvec V, Banouvong V, Lapalme
            M, Tarmoun K, Beaucaire G, Lussier MP and Kourrich S.
  TITLE     Overview of Sigma-1R Subcellular Specific Biological Functions and
            Role in Neuroprotection
  JOURNAL   Int J Mol Sci 24 (3), 1971 (2023)
   PUBMED   36768299
  REMARK    GeneRIF: Overview of Sigma-1R Subcellular Specific Biological
            Functions and Role in Neuroprotection.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 110)
  AUTHORS   Xu Z, Lei Y, Qin H, Zhang S, Li P and Yao K.
  TITLE     Sigma-1 Receptor in Retina: Neuroprotective Effects and Potential
            Mechanisms
  JOURNAL   Int J Mol Sci 23 (14), 7572 (2022)
   PUBMED   35886921
  REMARK    GeneRIF: Sigma-1 Receptor in Retina: Neuroprotective Effects and
            Potential Mechanisms.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 110)
  AUTHORS   Dussossoy D, Carayon P, Belugou S, Feraut D, Bord A, Goubet C,
            Roque C, Vidal H, Combes T, Loison G and Casellas P.
  TITLE     Colocalization of sterol isomerase and sigma(1) receptor at
            endoplasmic reticulum and nuclear envelope level
  JOURNAL   Eur J Biochem 263 (2), 377-386 (1999)
   PUBMED   10406945
REFERENCE   7  (residues 1 to 110)
  AUTHORS   Ganapathy ME, Prasad PD, Huang W, Seth P, Leibach FH and Ganapathy
            V.
  TITLE     Molecular and ligand-binding characterization of the sigma-receptor
            in the Jurkat human T lymphocyte cell line
  JOURNAL   J Pharmacol Exp Ther 289 (1), 251-260 (1999)
   PUBMED   10087012
REFERENCE   8  (residues 1 to 110)
  AUTHORS   Prasad PD, Li HW, Fei YJ, Ganapathy ME, Fujita T, Plumley LH,
            Yang-Feng TL, Leibach FH and Ganapathy V.
  TITLE     Exon-intron structure, analysis of promoter region, and chromosomal
            localization of the human type 1 sigma receptor gene
  JOURNAL   J Neurochem 70 (2), 443-451 (1998)
   PUBMED   9453537
REFERENCE   9  (residues 1 to 110)
  AUTHORS   Jbilo O, Vidal H, Paul R, De Nys N, Bensaid M, Silve S, Carayon P,
            Davi D, Galiegue S, Bourrie B, Guillemot JC, Ferrara P, Loison G,
            Maffrand JP, Le Fur G and Casellas P.
  TITLE     Purification and characterization of the human SR 31747A-binding
            protein. A nuclear membrane protein related to yeast sterol
            isomerase
  JOURNAL   J Biol Chem 272 (43), 27107-27115 (1997)
   PUBMED   9341151
REFERENCE   10 (residues 1 to 110)
  AUTHORS   Kekuda R, Prasad PD, Fei YJ, Leibach FH and Ganapathy V.
  TITLE     Cloning and functional expression of the human type 1 sigma
            receptor (hSigmaR1)
  JOURNAL   Biochem Biophys Res Commun 229 (2), 553-558 (1996)
   PUBMED   8954936
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BE018138.1, AK291092.1,
            AL450283.16 and BC007839.2.
            
            Summary: This gene encodes a receptor protein that interacts with a
            variety of psychotomimetic drugs, including cocaine and
            amphetamines. The receptor is believed to play an important role in
            the cellular functions of various tissues associated with the
            endocrine, immune, and nervous systems. As indicated by its
            previous name, opioid receptor sigma 1 (OPRS1), the product of this
            gene was erroneously thought to function as an opioid receptor; it
            is now thought to be a non-opioid receptor. Mutations in this gene
            has been associated with juvenile amyotrophic lateral sclerosis 16.
            Alternative splicing of this gene results in transcript variants
            encoding distinct isoforms. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (10) uses an alternate splice site
            and lacks an alternate exon in the central coding region, which
            results in a frameshift and an early stop codon, compared to
            variant 1. The encoded isoform (10) has a shorter and distinct
            C-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2488295.1,
                                           SRR14038195.1223224.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..110
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     Protein         1..110
                     /product="sigma non-opioid intracellular receptor 1
                     isoform 10"
                     /note="SR31747 binding protein 1; sigma 1-type opioid
                     receptor; aging-associated gene 8 protein"
                     /calculated_mol_wt=12337
     Region          2..8
                     /region_name="Targeting to endoplasmic
                     reticulum-associated lipid droplets.
                     /evidence=ECO:0000250|UniProtKB:O55242"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99720.1)"
     Site            10..30
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99720.1)"
     Region          25..>102
                     /region_name="ERG2_Sigma1R"
                     /note="ERG2 and Sigma1 receptor like protein; pfam04622"
                     /db_xref="CDD:428041"
     CDS             1..110
                     /gene="SIGMAR1"
                     /gene_synonym="ALS16; DSMA2; hSigmaR1; OPRS1; SIG-1R;
                     sigma1R; SR-BP; SR-BP1; SRBP"
                     /coded_by="NM_001282209.2:91..423"
                     /note="isoform 10 is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS94401.1"
                     /db_xref="GeneID:10280"
                     /db_xref="HGNC:HGNC:8157"
                     /db_xref="MIM:601978"
ORIGIN      
        1 mqwavgrrwa waalllavaa vltqvvwlwl gtqsfvfqre eiaqlarqya gldhelafsr
       61 livelrrlhp ghvlpdeelq wvfvnaggwm gamcllhasl segdgstraw
//
LOCUS       NP_001374520             918 aa            linear   PRI 17-APR-2023
DEFINITION  focal adhesion kinase 1 isoform 54 [Homo sapiens].
ACCESSION   NP_001374520
VERSION     NP_001374520.1
DBSOURCE    REFSEQ: accession NM_001387591.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 918)
  AUTHORS   Zhang J, Li W, Wang W, Chen Q, Xu Z, Deng M, Zhou L and He G.
  TITLE     Dual roles of FAK in tumor angiogenesis: A review focused on
            pericyte FAK
  JOURNAL   Eur J Pharmacol 947, 175694 (2023)
   PUBMED   36967077
  REMARK    GeneRIF: Dual roles of FAK in tumor angiogenesis: A review focused
            on pericyte FAK.
            Review article
REFERENCE   2  (residues 1 to 918)
  AUTHORS   Akhade VS, Liu T, Docking TR, Jiang J, Gopal A and Karsan A.
  TITLE     Control of focal adhesion kinase activation by RUNX1-regulated
            miRNAs in high-risk AML
  JOURNAL   Leukemia 37 (4), 776-787 (2023)
   PUBMED   36788336
  REMARK    GeneRIF: Control of focal adhesion kinase activation by
            RUNX1-regulated miRNAs in high-risk AML.
REFERENCE   3  (residues 1 to 918)
  AUTHORS   Zhang Y, He B, Zhang D, Zhang Y, Chen C, Zhang W, Yang S, Yao M,
            Cui G, Gu J, Wang T, Lin Z, Fan Y, Xiong Z and Hao Y.
  TITLE     FAK-mediated phosphorylation at Y464 regulates p85beta nuclear
            translocation to promote tumorigenesis of ccRCC by repressing RB1
            expression
  JOURNAL   Cell Rep 42 (3), 112188 (2023)
   PUBMED   36857183
  REMARK    GeneRIF: FAK-mediated phosphorylation at Y464 regulates p85beta
            nuclear translocation to promote tumorigenesis of ccRCC by
            repressing RB1 expression.
REFERENCE   4  (residues 1 to 918)
  AUTHORS   Zhang J, Gelman IH, Qu J and Hochwald SN.
  TITLE     Phosphohistidine signaling promotes FAK-RB1 interaction and growth
            factor-independent proliferation of esophageal squamous cell
            carcinoma
  JOURNAL   Oncogene 42 (6), 449-460 (2023)
   PUBMED   36513743
  REMARK    GeneRIF: Phosphohistidine signaling promotes FAK-RB1 interaction
            and growth factor-independent proliferation of esophageal squamous
            cell carcinoma.
REFERENCE   5  (residues 1 to 918)
  AUTHORS   Rizza S, Di Leo L, Pecorari C, Giglio P, Faienza F, Montagna C,
            Maiani E, Puglia M, Bosisio FM, Petersen TS, Lin L, Rissler V,
            Viloria JS, Luo Y, Papaleo E, De Zio D, Blagoev B and Filomeni G.
  TITLE     GSNOR deficiency promotes tumor growth via FAK1 S-nitrosylation
  JOURNAL   Cell Rep 42 (1), 111997 (2023)
   PUBMED   36656716
  REMARK    GeneRIF: GSNOR deficiency promotes tumor growth via FAK1
            S-nitrosylation.
REFERENCE   6  (residues 1 to 918)
  AUTHORS   Polte TR and Hanks SK.
  TITLE     Interaction between focal adhesion kinase and Crk-associated
            tyrosine kinase substrate p130Cas
  JOURNAL   Proc Natl Acad Sci U S A 92 (23), 10678-10682 (1995)
   PUBMED   7479864
REFERENCE   7  (residues 1 to 918)
  AUTHORS   Guinebault C, Payrastre B, Racaud-Sultan C, Mazarguil H, Breton M,
            Mauco G, Plantavid M and Chap H.
  TITLE     Integrin-dependent translocation of phosphoinositide 3-kinase to
            the cytoskeleton of thrombin-activated platelets involves specific
            interactions of p85 alpha with actin filaments and focal adhesion
            kinase
  JOURNAL   J Cell Biol 129 (3), 831-842 (1995)
   PUBMED   7537275
REFERENCE   8  (residues 1 to 918)
  AUTHORS   Calalb MB, Polte TR and Hanks SK.
  TITLE     Tyrosine phosphorylation of focal adhesion kinase at sites in the
            catalytic domain regulates kinase activity: a role for Src family
            kinases
  JOURNAL   Mol Cell Biol 15 (2), 954-963 (1995)
   PUBMED   7529876
REFERENCE   9  (residues 1 to 918)
  AUTHORS   Bergman M, Joukov V, Virtanen I and Alitalo K.
  TITLE     Overexpressed Csk tyrosine kinase is localized in focal adhesions,
            causes reorganization of alpha v beta 5 integrin, and interferes
            with HeLa cell spreading
  JOURNAL   Mol Cell Biol 15 (2), 711-722 (1995)
   PUBMED   7529872
REFERENCE   10 (residues 1 to 918)
  AUTHORS   Schaller MD, Hildebrand JD, Shannon JD, Fox JW, Vines RR and
            Parsons JT.
  TITLE     Autophosphorylation of the focal adhesion kinase, pp125FAK, directs
            SH2-dependent binding of pp60src
  JOURNAL   Mol Cell Biol 14 (3), 1680-1688 (1994)
   PUBMED   7509446
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC100860.2, AC105009.13,
            AC105235.7 and AC067931.16.
            
            Summary: This gene encodes a cytoplasmic protein tyrosine kinase
            which is found concentrated in the focal adhesions that form
            between cells growing in the presence of extracellular matrix
            constituents. The encoded protein is a member of the FAK subfamily
            of protein tyrosine kinases but lacks significant sequence
            similarity to kinases from other subfamilies. Activation of this
            gene may be an important early step in cell growth and
            intracellular signal transduction pathways triggered in response to
            certain neural peptides or to cell interactions with the
            extracellular matrix. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jun 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2688146.1,
                                           SRR14038191.4102247.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..918
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..918
                     /product="focal adhesion kinase 1 isoform 54"
                     /EC_number="2.7.10.2"
                     /note="focal adhesion kinase 1; FAK-related non-kinase
                     polypeptide; focal adhesion kinase-related nonkinase;
                     protein phosphatase 1 regulatory subunit 71; PTK2 protein
                     tyrosine kinase 2"
                     /calculated_mol_wt=103958
     Region          <9..145
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          141..251
                     /region_name="FERM_C_FAK1"
                     /note="FERM domain C-lobe of Focal Adhesion Kinase 1 and
                     2; cd13190"
                     /db_xref="CDD:270011"
     Site            order(149,169,171,178)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270011"
     Site            order(183,188..191,228,232,235..236)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Site            228..239
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Region          302..571
                     /region_name="PTKc_FAK"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Focal Adhesion Kinase; cd05056"
                     /db_xref="CDD:133187"
     Site            order(315..319,323,339,341,358,371,386..389,392..393,433,
                     437..438,440,451,468..472,481,515)
                     /site_type="active"
                     /db_xref="CDD:133187"
     Site            order(315..319,323,339,341,358,371,386..389,392..393,
                     437..438,440,451)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133187"
     Site            order(433,437,468..472,481,515)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133187"
     Site            450..474
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133187"
     Site            order(481..485,519,523,548)
                     /site_type="other"
                     /note="FERM domain interface [polypeptide binding]"
                     /db_xref="CDD:133187"
     Region          782..911
                     /region_name="Focal_AT"
                     /note="Focal adhesion targeting region; pfam03623"
                     /db_xref="CDD:427406"
     CDS             1..918
                     /gene="PTK2"
                     /gene_synonym="FADK; FADK 1; FAK; FAK1; FRNK; p125FAK;
                     pp125FAK; PPP1R71"
                     /coded_by="NM_001387591.1:363..3119"
                     /note="isoform 54 is encoded by transcript variant 75"
                     /db_xref="GeneID:5747"
                     /db_xref="HGNC:HGNC:9611"
                     /db_xref="MIM:600758"
ORIGIN      
        1 memllmsgye lrirylpkgf lnqftedkpt lnffyqqvks dymleiadqv dqeialklgc
       61 leirrsywem rgnalekksn yevlekdvgl krffpkslld svkaktlrkl iqqtfrqfan
      121 lnreesilkf feilspvyrf dkecfkcalg sswiisvela igpeegisyl tdkgcnpthl
      181 adftqvqtiq ysnsedkdrk gmlqlkiaga pepltvtaps ltiaenmadl idgycrlvng
      241 tsqsfiirpq kegeralpsi pklansekqg mrthavsvse tddyaeiide edtytmpstr
      301 dyeiqrerie lgrcigegqf gdvhqgiyms penpalavai ktcknctsds vrekflqeal
      361 tmrqfdhphi vkligviten pvwiimelct lgelrsflqv rkysldlasl ilyayqlsta
      421 layleskrfv hrdiaarnvl vssndcvklg dfglsrymed styykaskgk lpikwmapes
      481 infrrftsas dvwmfgvcmw eilmhgvkpf qgvknndvig riengerlpm ppncpptlys
      541 lmtkcwaydp srrprftelk aqlstileee kaqqeermrm esrrqatvsw dsggsdeapp
      601 kpsrpgypsp rssegfypsp qhmvqtnhyq vsgypgshgi tamagsiypg qaslldqtds
      661 wnhrpqeiam wqpnvedstv ldlrgigqvl pthlmeerli rqqqemeedq rwlekeerfl
      721 ignqhiyqpv gkpdpaappk kpprpgapgh lgslaslssp adsynegvkl qpqeispppt
      781 anldrsndkv yenvtglvka viemsskiqp appeeyvpmv kevglalrtl latvdetipl
      841 lpasthreie maqkllnsdl gelinkmkla qqyvmtslqq eykkqmltaa halavdaknl
      901 ldvidqarlk mlgqtrph
//
LOCUS       NP_001242955             608 aa            linear   PRI 14-DEC-2022
DEFINITION  rho GTPase-activating protein 22 isoform 4 [Homo sapiens].
ACCESSION   NP_001242955
VERSION     NP_001242955.1
DBSOURCE    REFSEQ: accession NM_001256026.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 608)
  AUTHORS   Mori M, Saito K, Sekine A, Hasebe R and Ohta Y.
  TITLE     Endosomal Localization of RacGAP Protein ARHGAP22 Regulates its GAP
            Activity in Human Melanoma Cells
  JOURNAL   Anticancer Res 42 (12), 5763-5771 (2022)
   PUBMED   36456117
  REMARK    GeneRIF: Endosomal Localization of RacGAP Protein ARHGAP22
            Regulates its GAP Activity in Human Melanoma Cells.
REFERENCE   2  (residues 1 to 608)
  AUTHORS   Han M, Dong Z, Duan H, Sun X, Zhang T and Ying M.
  TITLE     Associations of rs2300782 CAMK4, rs2292239 ERBB3 and rs10491034
            ARHGAP22 with Diabetic Retinopathy Among Chinese Hui Population
  JOURNAL   DNA Cell Biol 39 (3), 398-403 (2020)
   PUBMED   31976761
  REMARK    GeneRIF: rs10491034 of gene ARHGAP22 is associated with diabetic
            retinopathy incidence and severity among Chinese Hui population.
REFERENCE   3  (residues 1 to 608)
  AUTHORS   Koroknai V, Szasz I, Hernandez-Vargas H, Fernandez-Jimenez N,
            Cuenin C, Herceg Z, Vizkeleti L, Adany R, Ecsedi S and Balazs M.
  TITLE     DNA hypermethylation is associated with invasive phenotype of
            malignant melanoma
  JOURNAL   Exp Dermatol 29 (1), 39-50 (2020)
   PUBMED   31602702
  REMARK    GeneRIF: DNA hypermethylation is associated with invasive phenotype
            of malignant melanoma.
REFERENCE   4  (residues 1 to 608)
  AUTHORS   Li R, Chen P, Li J, Yan M, Li J, Li S and Zhu H.
  TITLE     Association of ARHGAP22 gene polymorphisms with the risk of type 2
            diabetic retinopathy
  JOURNAL   J Gene Med 19 (6-7) (2017)
   PUBMED   28544509
  REMARK    GeneRIF: There is a significant association between single
            nucleotide polymorphism in the ARHGAP22 gene and diabetic
            retinopathy risk in a Han Chinese population
REFERENCE   5  (residues 1 to 608)
  AUTHORS   van der Loos MJ, Rietveld CA, Eklund N, Koellinger PD, Rivadeneira
            F, Abecasis GR, Ankra-Badu GA, Baumeister SE, Benjamin DJ, Biffar
            R, Blankenberg S, Boomsma DI, Cesarini D, Cucca F, de Geus EJ,
            Dedoussis G, Deloukas P, Dimitriou M, Eiriksdottir G, Eriksson J,
            Gieger C, Gudnason V, Hohne B, Holle R, Hottenga JJ, Isaacs A,
            Jarvelin MR, Johannesson M, Kaakinen M, Kahonen M, Kanoni S,
            Laaksonen MA, Lahti J, Launer LJ, Lehtimaki T, Loitfelder M,
            Magnusson PK, Naitza S, Oostra BA, Perola M, Petrovic K, Quaye L,
            Raitakari O, Ripatti S, Scheet P, Schlessinger D, Schmidt CO,
            Schmidt H, Schmidt R, Senft A, Smith AV, Spector TD, Surakka I,
            Svento R, Terracciano A, Tikkanen E, van Duijn CM, Viikari J,
            Volzke H, Wichmann HE, Wild PS, Willems SM, Willemsen G, van Rooij
            FJ, Groenen PJ, Uitterlinden AG, Hofman A and Thurik AR.
  TITLE     The molecular genetic architecture of self-employment
  JOURNAL   PLoS One 8 (4), e60542 (2013)
   PUBMED   23593239
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 608)
  AUTHORS   Valnegri P, Montrasio C, Brambilla D, Ko J, Passafaro M and Sala C.
  TITLE     The X-linked intellectual disability protein IL1RAPL1 regulates
            excitatory synapse formation by binding PTPdelta and RhoGAP2
  JOURNAL   Hum Mol Genet 20 (24), 4797-4809 (2011)
   PUBMED   21926414
  REMARK    GeneRIF: The interaction of the IL1RAPL1 family of proteins with
            PTPdelta and RhoGAP2 reveals a pathophysiological mechanism of
            cognitive impairment associated with a novel type of trans-synaptic
            signaling.
REFERENCE   7  (residues 1 to 608)
  AUTHORS   Dick DM, Aliev F, Krueger RF, Edwards A, Agrawal A, Lynskey M, Lin
            P, Schuckit M, Hesselbrock V, Nurnberger J Jr, Almasy L, Porjesz B,
            Edenberg HJ, Bucholz K, Kramer J, Kuperman S and Bierut L.
  TITLE     Genome-wide association study of conduct disorder symptomatology
  JOURNAL   Mol Psychiatry 16 (8), 800-808 (2011)
   PUBMED   20585324
REFERENCE   8  (residues 1 to 608)
  AUTHORS   Huang YC, Lin JM, Lin HJ, Chen CC, Chen SY, Tsai CH and Tsai FJ.
  TITLE     Genome-wide association study of diabetic retinopathy in a
            Taiwanese population
  JOURNAL   Ophthalmology 118 (4), 642-648 (2011)
   PUBMED   21310492
  REMARK    GeneRIF: We identified a genetic association for susceptibility to
            retinopathy in 5 novel chromosomal regions and PLXDC2 and ARHGAP22,
            the latter 2 of which are genes implicated in endothelial cell
            angiogenesis and increased capillary permeability.
REFERENCE   9  (residues 1 to 608)
  AUTHORS   Kahle JJ, Gulbahce N, Shaw CA, Lim J, Hill DE, Barabasi AL and
            Zoghbi HY.
  TITLE     Comparison of an expanded ataxia interactome with patient medical
            records reveals a relationship between macular degeneration and
            ataxia
  JOURNAL   Hum Mol Genet 20 (3), 510-527 (2011)
   PUBMED   21078624
REFERENCE   10 (residues 1 to 608)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of ARHGAP24 and ARHGAP25 genes
            in silico
  JOURNAL   Int J Mol Med 14 (2), 333-338 (2004)
   PUBMED   15254788
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016397.6, AK127586.1 and
            DB338179.1.
            
            Summary: This gene encodes a member of the GTPase activating
            protein family which activates a GTPase belonging to the RAS
            superfamily of small GTP-binding proteins. The encoded protein is
            insulin-responsive, is dependent on the kinase Akt and requires the
            Akt-dependent 14-3-3 binding protein which binds sequentially to
            two serine residues. The result of these interactions is regulation
            of cell motility. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Dec
            2011].
            
            Transcript Variant: This variant (4) differs in the 5' UTR and
            lacks a portion of the 5' coding region, uses an alternate in-frame
            splice site in a 5' exon, and initiates translation at an alternate
            start codon compared to variant 1. The resulting protein (isoform
            4) is shorter and has a distinct N-terminus compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK127586.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..608
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22-q11.23"
     Protein         1..608
                     /product="rho GTPase-activating protein 22 isoform 4"
                     /note="rho GTPase-activating protein 22; rho-type
                     GTPase-activating protein 22"
                     /calculated_mol_wt=66480
     Region          <18..61
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          61..259
                     /region_name="RhoGAP_ARHGAP22_24_25"
                     /note="GTPase-activator protein (GAP) domain for Rho-like
                     GTPases found in ARHGAP22, 24 and 25-like proteins; longer
                     isoforms of these proteins contain an additional
                     N-terminal pleckstrin homology (PH) domain. ARHGAP25
                     (KIA0053) has been identified as a GAP for...; cd04390"
                     /db_xref="CDD:239855"
     Site            order(105,142,146,217,220..221,245)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239855"
     Site            105
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239855"
     Region          <500..>588
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..608
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /coded_by="NM_001256026.2:161..1987"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS58079.1"
                     /db_xref="GeneID:58504"
                     /db_xref="HGNC:HGNC:30320"
                     /db_xref="MIM:610585"
ORIGIN      
        1 mpfwpirclk rsrrmprgga gerekvpanp ealllmassq rdmedwvqai rrviwaplgg
       61 gifgqrleet vhherkygpr lapllveqcv dfirerglte eglfrmpgqa nlvrdlqdsf
      121 dcgekplfds ttdvhtvasl lklylrelpe pvvpfaryed flscaqlltk degegtlela
      181 kqvsnlpqan ynllryickf ldevqaysnv nkmsvqnlat vfgpnilrpq vedpvtimeg
      241 tslvqhlmtv lirkhsqlft apvpegptsp rgglqcavgw gseevtrdsq gepggpglpa
      301 hrtssldgaa vavlsrtapt gpgsrcspgk kvqtlpswks sfrqprslsg spkgggssle
      361 vpiissggnw lmnglsslrg hrrassgdrl kdsgsvqrls tydnvpapgl vpgipsvasm
      421 awsgassses svggslssct acrasdssar sslhtdwale psplpsssed pksldldhsm
      481 deagagasns epsepdsptr eharrsealq glvtelrael crqrteyers vkrieegsad
      541 lrkrmsrlee eldqekkkyi mleiklrnse raredaerrn qllqremeef fstlgsltvg
      601 akgarapk
//
LOCUS       NP_001180432             391 aa            linear   PRI 17-DEC-2022
DEFINITION  beta-enolase isoform 2 [Homo sapiens].
ACCESSION   NP_001180432
VERSION     NP_001180432.1
DBSOURCE    REFSEQ: accession NM_001193503.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 391)
  AUTHORS   Chen J, Zhang Z, Ni J, Sun J, Ju F, Wang Z, Wang L and Xue M.
  TITLE     ENO3 promotes colorectal cancer progression by enhancing cell
            glycolysis
  JOURNAL   Med Oncol 39 (5), 80 (2022)
   PUBMED   35477821
  REMARK    GeneRIF: ENO3 promotes colorectal cancer progression by enhancing
            cell glycolysis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 391)
  AUTHORS   Park C, Lee Y, Je S, Chang S, Kim N, Jeong E and Yoon S.
  TITLE     Overexpression and Selective Anticancer Efficacy of ENO3 in STK11
            Mutant Lung Cancers
  JOURNAL   Mol Cells 42 (11), 804-809 (2019)
   PUBMED   31697874
  REMARK    GeneRIF: Enolase 3 (ENO3) overexpression under serine/threonine
            kinase 11 (STK11) loss-of-function mutations implies that ENO3
            might be a selective anticancer target in STK11-mutant cancer.
REFERENCE   3  (residues 1 to 391)
  AUTHORS   Baleva M, Gowher A, Kamenski P, Tarassov I, Entelis N and Masquida
            B.
  TITLE     A Moonlighting Human Protein Is Involved in Mitochondrial Import of
            tRNA
  JOURNAL   Int J Mol Sci 16 (5), 9354-9367 (2015)
   PUBMED   25918939
  REMARK    GeneRIF: tRK1 forms a complex with human enolases and interacts
            with tRK1 and human pre-lysyl-tRNA synthetase (preKARS2)
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 391)
  AUTHORS   Musumeci O, Brady S, Rodolico C, Ciranni A, Montagnese F, Aguennouz
            M, Kirk R, Allen E, Godfrey R, Romeo S, Murphy E, Rahman S,
            Quinlivan R and Toscano A.
  TITLE     Recurrent rhabdomyolysis due to muscle beta-enolase deficiency:
            very rare or underestimated?
  JOURNAL   J Neurol 261 (12), 2424-2428 (2014)
   PUBMED   25267339
  REMARK    GeneRIF: Molecular genetic analysis of ENO3 gene revealed two novel
            homozygous missense mutations, (p.Asn151Ser and p.Glu187Lys)in
            patients presenting with recurrent rhabdomyolysis.
REFERENCE   5  (residues 1 to 391)
  AUTHORS   Bohm D, Keller K, Pieter J, Boehm N, Wolters D, Siggelkow W,
            Lebrecht A, Schmidt M, Kolbl H, Pfeiffer N and Grus FH.
  TITLE     Comparison of tear protein levels in breast cancer patients and
            healthy controls using a de novo proteomic approach
  JOURNAL   Oncol Rep 28 (2), 429-438 (2012)
   PUBMED   22664934
REFERENCE   6  (residues 1 to 391)
  AUTHORS   Lanfranchi,G., Muraro,T., Caldara,F., Pacchioni,B., Pallavicini,A.,
            Pandolfo,D., Toppo,S., Trevisan,S., Scarso,S. and Valle,G.
  TITLE     Identification of 4370 expressed sequence tags from a
            3'-end-specific cDNA library of human skeletal muscle by DNA
            sequencing and filter hybridization
  JOURNAL   Genome Res 6 (1), 35-42 (1996)
   PUBMED   8681137
REFERENCE   7  (residues 1 to 391)
  AUTHORS   Giallongo A, Venturella S, Oliva D, Barbieri G, Rubino P and Feo S.
  TITLE     Structural features of the human gene for muscle-specific enolase.
            Differential splicing in the 5'-untranslated sequence generates two
            forms of mRNA
  JOURNAL   Eur J Biochem 214 (2), 367-374 (1993)
   PUBMED   8513787
  REMARK    Erratum:[Eur J Biochem 1993 Dec 15;218(3):1095]
REFERENCE   8  (residues 1 to 391)
  AUTHORS   Peshavaria M and Day IN.
  TITLE     Molecular structure of the human muscle-specific enolase gene
            (ENO3)
  JOURNAL   Biochem J 275 (Pt 2) (Pt 2), 427-433 (1991)
   PUBMED   1840492
REFERENCE   9  (residues 1 to 391)
  AUTHORS   Cali L, Feo S, Oliva D and Giallongo A.
  TITLE     Nucleotide sequence of a cDNA encoding the human muscle-specific
            enolase (MSE)
  JOURNAL   Nucleic Acids Res 18 (7), 1893 (1990)
   PUBMED   2336366
REFERENCE   10 (residues 1 to 391)
  AUTHORS   Peshavaria M, Hinks LJ and Day IN.
  TITLE     Structure of human muscle (beta) enolase mRNA and protein deduced
            from a genomic clone
  JOURNAL   Nucleic Acids Res 17 (21), 8862 (1989)
   PUBMED   2587223
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK300709.1 and F26358.1.
            
            Summary: This gene encodes one of the three enolase isoenzymes
            found in mammals. This isoenzyme is found in skeletal muscle cells
            in the adult where it may play a role in muscle development and
            regeneration. A switch from alpha enolase to beta enolase occurs in
            muscle tissue during development in rodents. Mutations in this gene
            have be associated glycogen storage disease. Alternatively spliced
            transcript variants encoding different isoforms have been
            described.[provided by RefSeq, Jul 2010].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            lacks two exons in the 5' coding region compared to variant 1. The
            resulting protein (isoform 2) is shorter but has the same N- and
            C-termini compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK300709.1, DRR138527.60435.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151741, SAMEA2154361
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..391
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     Protein         1..391
                     /product="beta-enolase isoform 2"
                     /EC_number="4.2.1.11"
                     /note="skeletal muscle enolase; 2-phospho-D-glycerate
                     hydrolyase; enolase 3 (beta, muscle); muscle enriched
                     enolase; muscle-specific enolase"
                     /calculated_mol_wt=42117
     Region          2..388
                     /region_name="PLN00191"
                     /note="enolase"
                     /db_xref="CDD:215095"
     CDS             1..391
                     /gene="ENO3"
                     /gene_synonym="GSD13; MSE"
                     /coded_by="NM_001193503.2:67..1242"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS54070.1"
                     /db_xref="GeneID:2027"
                     /db_xref="HGNC:HGNC:3354"
                     /db_xref="MIM:131370"
ORIGIN      
        1 mamqkifare ildsrgnptv evdlhtakgr fraavpsgas tgiyealelr dgdkgrylgk
       61 akfganailg vslavckaga aekgvplyrh iadlagnpdl ilpvpafnvi nggshagnkl
      121 amqefmilpv gassfkeamr igaevyhhlk gvikakygkd atnvgdeggf apnilennea
      181 lellktaiqa agypdkvvig mdvaasefyr ngkydldfks pddparhitg eklgelyksf
      241 iknypvvsie dpfdqddwat wtsflsgvni qivgddltvt npkriaqave kkacnclllk
      301 vnqigsvtes iqacklaqsn gwgvmvshrs getedtfiad lvvglctgqi ktgapcrser
      361 lakynqlmri eealgdkaif agrkfrnpka k
//
LOCUS       NP_653209                286 aa            linear   PRI 22-DEC-2022
DEFINITION  protein HEXIM2 isoform 1 [Homo sapiens].
ACCESSION   NP_653209
VERSION     NP_653209.1
DBSOURCE    REFSEQ: accession NM_144608.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 286)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 286)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (residues 1 to 286)
  AUTHORS   Liu P, Xiang Y, Fujinaga K, Bartholomeeusen K, Nilson KA, Price DH
            and Peterlin BM.
  TITLE     Release of positive transcription elongation factor b (P-TEFb) from
            7SK small nuclear ribonucleoprotein (snRNP) activates hexamethylene
            bisacetamide-inducible protein (HEXIM1) transcription
  JOURNAL   J Biol Chem 289 (14), 9918-9925 (2014)
   PUBMED   24515107
REFERENCE   4  (residues 1 to 286)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   5  (residues 1 to 286)
  AUTHORS   Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
            Safari A, Liu D and Songyang Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   6  (residues 1 to 286)
  AUTHORS   Li Q, Price JP, Byers SA, Cheng D, Peng J and Price DH.
  TITLE     Analysis of the large inactive P-TEFb complex indicates that it
            contains one 7SK molecule, a dimer of HEXIM1 or HEXIM2, and two
            P-TEFb molecules containing Cdk9 phosphorylated at threonine 186
  JOURNAL   J Biol Chem 280 (31), 28819-28826 (2005)
   PUBMED   15965233
  REMARK    GeneRIF: Positive transcription elongation factor b regulates
            eukaryotic gene expression at the level of elongation and is
            controlled by the reversible association with HEXIM2.
REFERENCE   7  (residues 1 to 286)
  AUTHORS   Fraldi A, Varrone F, Napolitano G, Michels AA, Majello B, Bensaude
            O and Lania L.
  TITLE     Inhibition of Tat activity by the HEXIM1 protein
  JOURNAL   Retrovirology 2, 42 (2005)
   PUBMED   15992410
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 286)
  AUTHORS   Byers SA, Price JP, Cooper JJ, Li Q and Price DH.
  TITLE     HEXIM2, a HEXIM1-related protein, regulates positive transcription
            elongation factor b through association with 7SK
  JOURNAL   J Biol Chem 280 (16), 16360-16367 (2005)
   PUBMED   15713662
  REMARK    GeneRIF: utilization of HEXIM1 or HEXIM2 to bind and inhibit P-TEFb
            can be differentially regulated in vivo.
REFERENCE   9  (residues 1 to 286)
  AUTHORS   Yik JH, Chen R, Pezda AC and Zhou Q.
  TITLE     Compensatory contributions of HEXIM1 and HEXIM2 in maintaining the
            balance of active and inactive positive transcription elongation
            factor b complexes for control of transcription
  JOURNAL   J Biol Chem 280 (16), 16368-16376 (2005)
   PUBMED   15713661
  REMARK    GeneRIF: HEXIM2 can functionally and quantitatively compensate for
            the loss of HEXIM1
REFERENCE   10 (residues 1 to 286)
  AUTHORS   Michels AA, Nguyen VT, Fraldi A, Labas V, Edwards M, Bonnet F,
            Lania L and Bensaude O.
  TITLE     MAQ1 and 7SK RNA interact with CDK9/cyclin T complexes in a
            transcription-dependent manner
  JOURNAL   Mol Cell Biol 23 (14), 4859-4869 (2003)
   PUBMED   12832472
  REMARK    Erratum:[Mol Cell Biol. 2003 Dec;23(24):9405]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP398345.1, AW340131.1,
            BU501076.1, AK056946.1 and CA312679.1.
            
            Summary: This gene encodes a member of the HEXIM family of
            proteins. This protein is a component of the 7SK small nuclear
            ribonucleoprotein. This protein has been found to negatively
            regulate the kinase activity of the cyclin-dependent kinase P-TEFb,
            which phosphorylates multiple target proteins to promote
            transcriptional elongation. This gene is located approximately 7 kb
            downstream from related family member HEXIM1 on chromosome 17.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2015].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1-9 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056946.1, SRR1163657.170363.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..286
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..286
                     /product="protein HEXIM2 isoform 1"
                     /note="hexamethylene-bis-acetamide-inducible transcript 2;
                     hexamethylene bis-acetamide inducible 2; MAQ1 paralog;
                     protein HEXIM2; hexamethylene bis-acetamide-inducible
                     protein 2; hexamethylene bisacetamide inducible 2"
                     /calculated_mol_wt=32287
     Region          1..195
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MH2.1)"
     Site            29
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q96MH2.1)"
     Site            32
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96MH2.1)"
     Site            39
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96MH2.1)"
     Site            46
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96MH2.1)"
     Site            51
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96MH2.1)"
     Site            53
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96MH2.1)"
     Site            71
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96MH2.1)"
     Site            76
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q96MH2.1)"
     Site            81
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96MH2.1)"
     Region          102..227
                     /region_name="HEXIM"
                     /note="Hexamethylene bis-acetamide-inducible protein;
                     pfam15313"
                     /db_xref="CDD:434623"
     Region          140..143
                     /region_name="Interaction with P-TEFb"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MH2.1)"
     Region          226..286
                     /region_name="Interaction with CCNT1, HEXIM1 and HEXIM2.
                     /evidence=ECO:0000269|PubMed:15713661,
                     ECO:0000269|PubMed:15994294"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MH2.1)"
     CDS             1..286
                     /gene="HEXIM2"
                     /gene_synonym="L3"
                     /coded_by="NM_144608.2:963..1823"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS11496.1"
                     /db_xref="GeneID:124790"
                     /db_xref="HGNC:HGNC:28591"
                     /db_xref="MIM:615695"
ORIGIN      
        1 mmatpnqtac naespvalee aktsgapgsp qtpperhdsg gslpltprme shsededlag
       61 avgglgwnsr sprtqspggc saeavlarkk hrrrpskrkr hwrpylelsw aekqqrderq
      121 sqrasrvree mfakgqpvap ynttqflmnd rdpeepnldv phgishpgss geseagdsdg
      181 rgrahgefqr kdfsetyerf hteslqgrsk qelvrdylel ekrlsqaeee trrlqqlqac
      241 tgqqscrqve elaaevqrlr tenqrlrqen qmwnregcrc deepgt
//
LOCUS       NP_114067                810 aa            linear   PRI 23-DEC-2022
DEFINITION  protocadherin alpha-11 isoform 2 precursor [Homo sapiens].
ACCESSION   NP_114067
VERSION     NP_114067.1
DBSOURCE    REFSEQ: accession NM_031861.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 810)
  AUTHORS   Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Heard-Costa N, Lohman
            K, Johnson AD, Foster MC, Greenawalt DM, Griffin P, Ding J, Newman
            AB, Tylavsky F, Miljkovic I, Kritchevsky SB, Launer L, Garcia M,
            Eiriksdottir G, Carr JJ, Gudnason V, Harris TB, Cupples LA and
            Borecki IB.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
REFERENCE   2  (residues 1 to 810)
  AUTHORS   Wu C, Ma MH, Brown KR, Geisler M, Li L, Tzeng E, Jia CY, Jurisica I
            and Li SS.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
REFERENCE   3  (residues 1 to 810)
  AUTHORS   Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S,
            Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She
            X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb
            E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar
            J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E,
            Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L,
            Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y,
            Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck
            S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez
            A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M,
            Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF,
            Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas
            SM, Myers RM and Rubin EM.
  TITLE     The DNA sequence and comparative analysis of human chromosome 5
  JOURNAL   Nature 431 (7006), 268-274 (2004)
   PUBMED   15372022
REFERENCE   4  (residues 1 to 810)
  AUTHORS   Wu Q, Zhang T, Cheng JF, Kim Y, Grimwood J, Schmutz J, Dickson M,
            Noonan JP, Zhang MQ, Myers RM and Maniatis T.
  TITLE     Comparative DNA sequence analysis of mouse and human protocadherin
            gene clusters
  JOURNAL   Genome Res 11 (3), 389-404 (2001)
   PUBMED   11230163
REFERENCE   5  (residues 1 to 810)
  AUTHORS   Nollet F, Kools P and van Roy F.
  TITLE     Phylogenetic analysis of the cadherin superfamily allows
            identification of six major subfamilies besides several solitary
            members
  JOURNAL   J Mol Biol 299 (3), 551-572 (2000)
   PUBMED   10835267
  REMARK    Review article
REFERENCE   6  (residues 1 to 810)
  AUTHORS   Yagi T and Takeichi M.
  TITLE     Cadherin superfamily genes: functions, genomic organization, and
            neurologic diversity
  JOURNAL   Genes Dev 14 (10), 1169-1180 (2000)
   PUBMED   10817752
  REMARK    Review article
REFERENCE   7  (residues 1 to 810)
  AUTHORS   Wu Q and Maniatis T.
  TITLE     Large exons encoding multiple ectodomains are a characteristic
            feature of protocadherin genes
  JOURNAL   Proc Natl Acad Sci U S A 97 (7), 3124-3129 (2000)
   PUBMED   10716726
REFERENCE   8  (residues 1 to 810)
  AUTHORS   Sugino H, Hamada S, Yasuda R, Tuji A, Matsuda Y, Fujita M and Yagi
            T.
  TITLE     Genomic organization of the family of CNR cadherin genes in mice
            and humans
  JOURNAL   Genomics 63 (1), 75-87 (2000)
   PUBMED   10662547
REFERENCE   9  (residues 1 to 810)
  AUTHORS   Wu Q and Maniatis T.
  TITLE     A striking organization of a large family of human neural
            cadherin-like cell adhesion genes
  JOURNAL   Cell 97 (6), 779-790 (1999)
   PUBMED   10380929
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX111117.1, DB349483.1,
            BC136706.1 and AC005609.1.
            
            Summary: This gene is a member of the protocadherin alpha gene
            cluster, one of three related gene clusters tandemly linked on
            chromosome five that demonstrate an unusual genomic organization
            similar to that of B-cell and T-cell receptor gene clusters. The
            alpha gene cluster is composed of 15 cadherin superfamily genes
            related to the mouse CNR genes and consists of 13 highly similar
            and 2 more distantly related coding sequences. The tandem array of
            15 N-terminal exons, or variable exons, are followed by downstream
            C-terminal exons, or constant exons, which are shared by all genes
            in the cluster. The large, uninterrupted N-terminal exons each
            encode six cadherin ectodomains while the C-terminal exons encode
            the cytoplasmic domain. These neural cadherin-like cell adhesion
            proteins are integral plasma membrane proteins that most likely
            play a critical role in the establishment and function of specific
            cell-cell connections in the brain. Alternative splicing has been
            observed and additional variants have been suggested but their
            full-length nature has yet to be determined. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (2) utilizes the large, first exon
            then continues into the downstream intron 1 sequence before
            terminating. This one-exon transcript encodes a shorter isoform
            (2).
FEATURES             Location/Qualifiers
     source          1..810
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     Protein         1..810
                     /product="protocadherin alpha-11 isoform 2 precursor"
                     /note="KIAA0345-like 3"
                     /calculated_mol_wt=85002
     sig_peptide     1..29
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3408
     mat_peptide     30..810
                     /product="protocadherin alpha-11 isoform 2"
                     /calculated_mol_wt=85002
     Region          30..111
                     /region_name="Cadherin_2"
                     /note="Cadherin-like; pfam08266"
                     /db_xref="CDD:400525"
     Region          142..238
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(144..145,201,203,234,236..237)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          246..345
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(253..254,308,310,341,343..344)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            265
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5I1.1)"
     Site            304
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5I1.1)"
     Region          353..450
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(360..361,413,415,446,448..449)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          458..560
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(465..466,523,525,556,558..559)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            547
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5I1.1)"
     Region          580..669
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            697..717
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5I1.1)"
     CDS             1..810
                     /gene="PCDHA11"
                     /gene_synonym="CNR7; CNRN7; CNRS7; CRNR7; PCDH-ALPHA11"
                     /coded_by="NM_031861.2:1592..4024"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS75326.1"
                     /db_xref="GeneID:56138"
                     /db_xref="HGNC:HGNC:8665"
                     /db_xref="MIM:606317"
ORIGIN      
        1 mfgfqrrglg tprlqlwlll lefwevgsgq lhysvseeak hgtfvgriaq dlglelaelv
       61 qrlfrvaskt hgdllevnlq ngilfvnsri dreelcgqsa ecsihleviv drplqvfhvn
      121 vevkdindnp pvfslreqkl liaeskqsds rfplegasda dieenallty rlskneyfsl
      181 dsptngkqik rlslilkksl drektpelnl lltatdggkp eltgtvrllv qvldvndndp
      241 efdkseykvs lmenaaketl vlklnatdrd egvngevtys lmsikpngrh lftldqnnge
      301 vrvngtldye enkfykievq atdkgtppma ghctvwveil dtndnspeva vtslslpvre
      361 daqpstvial isvsdrdsgv ngqvtcsltp hvpfklvstf knyyslvlds aldrenvway
      421 elvvtardgg spslwatarv svevadvndn apafaqpeyt vfvkennppg chiftvsard
      481 adaqenalvs yslverrlgd ralssyvsvh aesgkvyalq pldheelell qfqvsardag
      541 vpplssnvtl qvfvldendn apallatqag saggavnklv prsvgaghvv akvravdads
      601 gynawlsyel qpaaggsrip frvglytgei sttraldead sprhrllvlv kdhgepalta
      661 tatvlvslve sgqapkassr tlagaaspea alvdvnvyli iaicvvssll vltlllytal
      721 wwsatptega capgkptlvc sravgswsys qqrrqrvcse egppktdlma fspslplgln
      781 keeegerqep gsnhpgqvsf lqippirkcm
//
LOCUS       NP_003599                337 aa            linear   PRI 24-DEC-2022
DEFINITION  psychosine receptor [Homo sapiens].
ACCESSION   NP_003599
VERSION     NP_003599.2
DBSOURCE    REFSEQ: accession NM_003608.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 337)
  AUTHORS   Xu X, Bu B, Tian H, Wu R and Yang J.
  TITLE     MicroRNAs combined with the TLR4/TDAG8 mRNAs and proinflammatory
            cytokines are biomarkers for the rapid diagnosis of sepsis
  JOURNAL   Mol Med Rep 26 (5) (2022)
   PUBMED   36102304
  REMARK    GeneRIF: MicroRNAs combined with the TLR4/TDAG8 mRNAs and
            proinflammatory cytokines are biomarkers for the rapid diagnosis of
            sepsis.
REFERENCE   2  (residues 1 to 337)
  AUTHORS   Mercier V, Boucher G, Devost D, Bourque K, Alikashani A, Beauchamp
            C, Bitton A, Foisy S, Goyette P, Charron G, Hebert TE and Rioux JD.
  TITLE     IBD-associated G protein-coupled receptor 65 variant compromises
            signalling and impairs key functions involved in inflammation
  JOURNAL   Cell Signal 93, 110294 (2022)
   PUBMED   35218908
  REMARK    GeneRIF: IBD-associated G protein-coupled receptor 65 variant
            compromises signalling and impairs key functions involved in
            inflammation.
REFERENCE   3  (residues 1 to 337)
  AUTHORS   Lin R, Wu W, Chen H, Gao H, Wu X, Li G, He Q, Lu H, Sun M and Liu
            Z.
  TITLE     GPR65 promotes intestinal mucosal Th1 and Th17 cell differentiation
            and gut inflammation through downregulating NUAK2
  JOURNAL   Clin Transl Med 12 (3), e771 (2022)
   PUBMED   35343079
  REMARK    GeneRIF: GPR65 promotes intestinal mucosal Th1 and Th17 cell
            differentiation and gut inflammation through downregulating NUAK2.
REFERENCE   4  (residues 1 to 337)
  AUTHORS   Timasheva Y, Nasibullin TR, Tuktarova IA, Erdman VV, Galiullin TR,
            Zaplakhova OV and Bakhtiiarova KZ.
  TITLE     Multilocus evaluation of genetic predictors of multiple sclerosis
  JOURNAL   Gene 809, 146008 (2022)
   PUBMED   34656742
  REMARK    GeneRIF: Multilocus evaluation of genetic predictors of multiple
            sclerosis.
REFERENCE   5  (residues 1 to 337)
  AUTHORS   Rowe JB, Kapolka NJ, Taghon GJ, Morgan WM and Isom DG.
  TITLE     The evolution and mechanism of GPCR proton sensing
  JOURNAL   J Biol Chem 296, 100167 (2021)
   PUBMED   33478938
  REMARK    GeneRIF: The evolution and mechanism of GPCR proton sensing.
REFERENCE   6  (residues 1 to 337)
  AUTHORS   Ishii S, Kihara Y and Shimizu T.
  TITLE     Identification of T cell death-associated gene 8 (TDAG8) as a novel
            acid sensing G-protein-coupled receptor
  JOURNAL   J Biol Chem 280 (10), 9083-9087 (2005)
   PUBMED   15618224
  REMARK    GeneRIF: TDAG8 may play biological roles in immune response and
            cellular transformation under conditions accompanying tissue
            acidosis.
REFERENCE   7  (residues 1 to 337)
  AUTHORS   Wang JQ, Kon J, Mogi C, Tobo M, Damirin A, Sato K, Komachi M,
            Malchinkhuu E, Murata N, Kimura T, Kuwabara A, Wakamatsu K, Koizumi
            H, Uede T, Tsujimoto G, Kurose H, Sato T, Harada A, Misawa N,
            Tomura H and Okajima F.
  TITLE     TDAG8 is a proton-sensing and psychosine-sensitive
            G-protein-coupled receptor
  JOURNAL   J Biol Chem 279 (44), 45626-45633 (2004)
   PUBMED   15326175
  REMARK    GeneRIF: TDAG8 is one of the proton-sensing GPCRs coupling to
            adenylyl cyclase and psychosine, and its related lysosphingolipids
            behave as if they were antagonists against protein-sensing
            receptors, including TDAG8, GPR4, and OGR1.
REFERENCE   8  (residues 1 to 337)
  AUTHORS   Sin WC, Zhang Y, Zhong W, Adhikarakunnathu S, Powers S, Hoey T, An
            S and Yang J.
  TITLE     G protein-coupled receptors GPR4 and TDAG8 are oncogenic and
            overexpressed in human cancers
  JOURNAL   Oncogene 23 (37), 6299-6303 (2004)
   PUBMED   15221007
  REMARK    GeneRIF: GPR4 and TDAG8 overexpression in human tumors plays a role
            in driving or maintaining tumor formation
REFERENCE   9  (residues 1 to 337)
  AUTHORS   Im DS, Heise CE, Nguyen T, O'Dowd BF and Lynch KR.
  TITLE     Identification of a molecular target of psychosine and its role in
            globoid cell formation
  JOURNAL   J Cell Biol 153 (2), 429-434 (2001)
   PUBMED   11309421
REFERENCE   10 (residues 1 to 337)
  AUTHORS   Kyaw H, Zeng Z, Su K, Fan P, Shell BK, Carter KC and Li Y.
  TITLE     Cloning, characterization, and mapping of human homolog of mouse
            T-cell death-associated gene
  JOURNAL   DNA Cell Biol 17 (6), 493-500 (1998)
   PUBMED   9655242
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL157955.5.
            On Aug 16, 2003 this sequence version replaced NP_003599.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA950973.1, SRR1803615.13159.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000267549.5/ ENSP00000267549.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..337
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q31.3"
     Protein         1..337
                     /product="psychosine receptor"
                     /note="T-cell death-associated gene 8 protein"
                     /calculated_mol_wt=39202
     Site            2
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8IYL9.1)"
     Region          15..301
                     /region_name="7tmA_GPR65_TDAG8"
                     /note="proton-sensing G protein-coupled receptor 65,
                     member of the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15365"
                     /db_xref="CDD:320487"
     Region          15..42
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320487"
     Site            16..36
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYL9.1)"
     Region          49..74
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320487"
     Site            51..71
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYL9.1)"
     Site            order(70,73..74,87..92,94..95,98,143,145..149,180,
                     183..185,187..189,191..192,239,242..243,245..246,249,
                     268..269,271..273,276,279..280)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320487"
     Site            79
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8IYL9.1)"
     Region          87..117
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320487"
     Site            90..110
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYL9.1)"
     Region          129..151
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320487"
     Site            130..150
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYL9.1)"
     Site            166
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8IYL9.1)"
     Region          180..209
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320487"
     Site            181..201
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYL9.1)"
     Region          219..249
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320487"
     Site            228..248
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYL9.1)"
     Region          269..294
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320487"
     Site            274..294
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYL9.1)"
     CDS             1..337
                     /gene="GPR65"
                     /gene_synonym="hTDAG8; TDAG8"
                     /coded_by="NM_003608.4:548..1561"
                     /db_xref="CCDS:CCDS9879.1"
                     /db_xref="GeneID:8477"
                     /db_xref="HGNC:HGNC:4517"
                     /db_xref="MIM:604620"
ORIGIN      
        1 mnstcieeqh dldhylfpiv yifviivsip anigslcvsf lqakkeselg iylfslslsd
       61 llyaltlplw idytwnkdnw tfspalckgs aflmymnfys stafltciav drylavvypl
      121 kffflrtrrf almvslsiwi letifnavml wedetvveyc daeksnftlc ydkyplekwq
      181 inlnlfrtct gyaiplvtil icnrkvyqav rhnkatenke kkriikllvs itvtfvlcft
      241 pfhvmllirc ilehavnfed hsnsgkrtyt myritvalts lncvadpily cfvtetgryd
      301 mwnilkfctg rcntsqrqrk rilsvstkdt melevle
//
LOCUS       NP_001026891             617 aa            linear   PRI 24-DEC-2022
DEFINITION  zinc finger protein 613 isoform 1 [Homo sapiens].
ACCESSION   NP_001026891
VERSION     NP_001026891.2
DBSOURCE    REFSEQ: accession NM_001031721.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 617)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK027565.1, BC057776.1, CA427456.1 and AC011460.3.
            On Feb 24, 2010 this sequence version replaced NP_001026891.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.82402.1,
                                           SRR1803614.63328.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000293471.11/ ENSP00000293471.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..617
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     Protein         1..617
                     /product="zinc finger protein 613 isoform 1"
                     /calculated_mol_wt=70013
     Region          8..67
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          176..531
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          206..226
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(211,213,215,217..218,221..222,225,239,241,245..246,
                     249..250,253,267,269,271,273..274,277..278,281)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          234..254
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          262..282
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          290..310
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          318..338
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          346..366
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          374..394
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(379,381,383,385..386,389..390,393,407,409,413..414,
                     417..418,421,435,437,439,441..442,445..446,449)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          402..422
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          430..450
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          458..478
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          486..506
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          514..530
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..617
                     /gene="ZNF613"
                     /coded_by="NM_001031721.4:428..2281"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS33089.1"
                     /db_xref="GeneID:79898"
                     /db_xref="HGNC:HGNC:25827"
ORIGIN      
        1 miksqesltl edvaveftwe ewqllgpaqk dlyrdvmlen ysnlvsvgyq askpdalfkl
       61 eqgepwtven eihsqicpei kkvdnhlqmh sqkqrclkrv eqchkhnafg niihqrksdf
      121 plrqnhdtfd lhgkilksnl slvnqnkrye iknsvgvngd gksflhakhe qfhnemnfpe
      181 ggnsvntnsq fikhqrtqni dkphvctecg kaflkksrli yhqrvhtgek phgcsicgka
      241 fsrksglteh qrnhtgekpy ectecdkafr wksqlnahqk ihtgeksyic sdcgkgfikk
      301 srlinhqrvh tgekphgcsl cgkafskrsr ltehqrthtg ekpyectecd kafrwksqln
      361 ahqkahtgek syicrdcgkg fiqkgnlivh qrihtgekpy icnecgkgfi qkgnllihrr
      421 thtgekpyvc necgkgfsqk tclishqrfh tgktpfvcte cgkscshksg linhqrihtg
      481 ekpytcsdcg kafrdkscln rhrrthtger pygcsdcgka fshlsclvyh kgmlharekc
      541 vgsvklenpc seshslshtr dliqdkdsvn mvtlqmpsva aqtsltnsaf qaeskvaivs
      601 qpvarssvsa dsricte
//
LOCUS       NP_653233                229 aa            linear   PRI 25-DEC-2022
DEFINITION  transmembrane protein 182 isoform a precursor [Homo sapiens].
ACCESSION   NP_653233
VERSION     NP_653233.5
DBSOURCE    REFSEQ: accession NM_144632.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 229)
  AUTHORS   Ma M, Lee JH and Kim M.
  TITLE     Identification of a TMEM182 rs141764639 polymorphism associated
            with central obesity by regulating tumor necrosis factor-alpha in a
            Korean population
  JOURNAL   J Diabetes Complications 34 (12), 107732 (2020)
   PUBMED   32938560
  REMARK    GeneRIF: Identification of a TMEM182 rs141764639 polymorphism
            associated with central obesity by regulating tumor necrosis
            factor-alpha in a Korean population.
REFERENCE   2  (residues 1 to 229)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 229)
  AUTHORS   Hsing EW, Shiah SG, Peng HY, Chen YW, Chuu CP, Hsiao JR, Lyu PC and
            Chang JY.
  TITLE     TNF-alpha-induced miR-450a mediates TMEM182 expression to promote
            oral squamous cell carcinoma motility
  JOURNAL   PLoS One 14 (3), e0213463 (2019)
   PUBMED   30893332
  REMARK    GeneRIF: Tumor necrosis factor alpha (TNF-alpha)-mediated
            expression of TMEM182 was regulated by miR-450a induction in oral
            squamous cell carcinoma. MiR-450a-reduced cellular adhesion was
            abolished by TMEM182 restoration.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 229)
  AUTHORS   Kim YK, Kim Y, Hwang MY, Shimokawa K, Won S, Kato N, Tabara Y,
            Yokota M, Han BG, Lee JH and Kim BJ.
  TITLE     Identification of a genetic variant at 2q12.1 associated with blood
            pressure in East Asians by genome-wide scan including
            gene-environment interactions
  JOURNAL   BMC Med Genet 15, 65 (2014)
   PUBMED   24903457
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 229)
  AUTHORS   Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A,
            Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V,
            Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I,
            Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat
            JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang
            W, Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd
            PM, Hayward C, Aulchenko Y, Campbell H and Rudan I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   6  (residues 1 to 229)
  AUTHORS   Wu Y and Smas CM.
  TITLE     Expression and regulation of transcript for the novel transmembrane
            protein Tmem182 in the adipocyte and muscle lineage
  JOURNAL   BMC Res Notes 1, 85 (2008)
   PUBMED   18803820
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 229)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007251.4.
            On Nov 23, 2018 this sequence version replaced NP_653233.4.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR936735.1, AK129862.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000412401.3/ ENSP00000394178.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..229
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q12.1"
     Protein         1..229
                     /product="transmembrane protein 182 isoform a precursor"
                     /calculated_mol_wt=23126
     sig_peptide     1..26
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6ZP80.2)"
                     /calculated_mol_wt=2771
     Region          15..220
                     /region_name="Claudin_2"
                     /note="PMP-22/EMP/MP20/Claudin tight junction; pfam13903"
                     /db_xref="CDD:372799"
     Site            47
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6ZP80.2)"
     Region          49..59
                     /region_name="Interaction with ITGB1.
                     /evidence=ECO:0000250|UniProtKB:A0A1D5NY17"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZP80.2)"
     Site            102
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6ZP80.2)"
     Site            115..135
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZP80.2)"
     Site            154..174
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZP80.2)"
     Site            201..221
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZP80.2)"
     CDS             1..229
                     /gene="TMEM182"
                     /coded_by="NM_144632.5:188..877"
                     /note="isoform a precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS2064.1"
                     /db_xref="GeneID:130827"
                     /db_xref="HGNC:HGNC:26391"
ORIGIN      
        1 mrlniaiffg alfgalgvll flvafgsdyw llatevgrcs geknienvtf hhegffwrcw
       61 fngiveends niwkfwytnq ppskncthay lspypfmrge hnstsydsav iyrgfwavlm
      121 llgvvavvia sfliicaapf ashflykagg gsyiaagilf slvvmlyviw vqavadmesy
      181 rnmkmkdcld ftpsvlygws fflapagiff sllagllflv vgwhiqihh
//
LOCUS       NP_001171928            1739 aa            linear   PRI 26-DEC-2022
DEFINITION  meiosis regulator and mRNA stability factor 1 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001171928
VERSION     NP_001171928.1
DBSOURCE    REFSEQ: accession NM_001184999.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1739)
  AUTHORS   Brothers WR, Fakim H, Kajjo S and Fabian MR.
  TITLE     P-bodies directly regulate MARF1-mediated mRNA decay in human cells
  JOURNAL   Nucleic Acids Res 50 (13), 7623-7636 (2022)
   PUBMED   35801873
  REMARK    GeneRIF: P-bodies directly regulate MARF1-mediated mRNA decay in
            human cells.
REFERENCE   2  (residues 1 to 1739)
  AUTHORS   Brothers WR, Hebert S, Kleinman CL and Fabian MR.
  TITLE     A non-canonical role for the EDC4 decapping factor in regulating
            MARF1-mediated mRNA decay
  JOURNAL   Elife 9, e54995 (2020)
   PUBMED   32510323
  REMARK    GeneRIF: A non-canonical role for the EDC4 decapping factor in
            regulating MARF1-mediated mRNA decay.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1739)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 1739)
  AUTHORS   Nishimura T, Fakim H, Brandmann T, Youn JY, Gingras AC, Jinek M and
            Fabian MR.
  TITLE     Human MARF1 is an endoribonuclease that interacts with the DCP1:2
            decapping complex and degrades target mRNAs
  JOURNAL   Nucleic Acids Res 46 (22), 12008-12021 (2018)
   PUBMED   30364987
  REMARK    GeneRIF: Human MARF1 is an endoribonuclease that interacts with the
            DCP1:DCP2 decapping complex and degrades target mRNAs.
REFERENCE   5  (residues 1 to 1739)
  AUTHORS   Guan W, Steffen BT, Lemaitre RN, Wu JHY, Tanaka T, Manichaikul A,
            Foy M, Rich SS, Wang L, Nettleton JA, Tang W, Gu X, Bandinelli S,
            King IB, McKnight B, Psaty BM, Siscovick D, Djousse L, Chen YI,
            Ferrucci L, Fornage M, Mozafarrian D, Tsai MY and Steffen LM.
  TITLE     Genome-wide association study of plasma N6 polyunsaturated fatty
            acids within the cohorts for heart and aging research in genomic
            epidemiology consortium
  JOURNAL   Circ Cardiovasc Genet 7 (3), 321-331 (2014)
   PUBMED   24823311
REFERENCE   6  (residues 1 to 1739)
  AUTHORS   Su YQ, Sun F, Handel MA, Schimenti JC and Eppig JJ.
  TITLE     Meiosis arrest female 1 (MARF1) has nuage-like function in
            mammalian oocytes
  JOURNAL   Proc Natl Acad Sci U S A 109 (46), 18653-18660 (2012)
   PUBMED   23090997
REFERENCE   7  (residues 1 to 1739)
  AUTHORS   Su YQ, Sugiura K, Sun F, Pendola JK, Cox GA, Handel MA, Schimenti
            JC and Eppig JJ.
  TITLE     MARF1 regulates essential oogenic processes in mice
  JOURNAL   Science 335 (6075), 1496-1499 (2012)
   PUBMED   22442484
REFERENCE   8  (residues 1 to 1739)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   9  (residues 1 to 1739)
  AUTHORS   Hendrickx A, Beullens M, Ceulemans H, Den Abt T, Van Eynde A,
            Nicolaescu E, Lesage B and Bollen M.
  TITLE     Docking motif-guided mapping of the interactome of protein
            phosphatase-1
  JOURNAL   Chem Biol 16 (4), 365-371 (2009)
   PUBMED   19389623
REFERENCE   10 (residues 1 to 1739)
  AUTHORS   Dunster K, Lai FP and Sentry JW.
  TITLE     Limkain b1, a novel human autoantigen localized to a subset of
            ABCD3 and PXF marked peroxisomes
  JOURNAL   Clin Exp Immunol 140 (3), 556-563 (2005)
   PUBMED   15932519
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC064914.1, BC144515.1, AC026401.7, AB007890.3 and DB360504.1.
            
            Summary: This gene encodes a putative peroxisomal protein that
            appears to be conserved across Euteleostomi. In humans, it may be
            autoantigenic. [provided by RefSeq, Jul 2010].
            
            Transcript Variant: This variant (3) uses an alternate in-frame
            splice site in the coding region, compared to variant 1. This
            results in a shorter isoform (3), compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC144515.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1739
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.11"
     Protein         1..1739
                     /product="meiosis regulator and mRNA stability factor 1
                     isoform 3"
                     /note="limkain-b1; protein phosphatase 1, regulatory
                     subunit 34; meiosis arrest female protein 1; meiosis
                     arrest female 1"
                     /calculated_mol_wt=192488
     Site            66
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4F3.6)"
     Region          349..471
                     /region_name="PIN_limkain_b1_N_like"
                     /note="N-terminal LabA-like PIN domain of limkain b1 and
                     similar proteins; cd10910"
                     /db_xref="CDD:350234"
     Region          507..579
                     /region_name="RRM1_LKAP"
                     /note="RNA recognition motif 1 (RRM1) found in Limkain-b1
                     (LKAP) and similar proteins; cd12255"
                     /db_xref="CDD:409700"
     Region          616..643
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4F3.6)"
     Region          678..714
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4F3.6)"
     Site            696
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q8BJ34; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4F3.6)"
     Site            757
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4F3.6)"
     Region          784..872
                     /region_name="RRM2_LKAP"
                     /note="RNA recognition motif 2 (RRM2) found in Limkain-b1
                     (LKAP) and similar proteins; cd12256"
                     /db_xref="CDD:409701"
     Region          875..1085
                     /region_name="MARF1_LOTUS"
                     /note="MARF1 LOTUS domain; pfam19687"
                     /db_xref="CDD:437519"
     Site            1088
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4F3.6)"
     Site            1090
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4F3.6)"
     Region          1097..1168
                     /region_name="LOTUS_3_Limkain_b1"
                     /note="The third LOTUS domain on Limkain b1(LKAP);
                     cd09979"
                     /db_xref="CDD:193593"
     Region          1173..1244
                     /region_name="LOTUS_4_Limkain_b1"
                     /note="The fourth LOTUS domain on Limkain b1(LKAP);
                     cd09980"
                     /db_xref="CDD:193594"
     Region          1257..1327
                     /region_name="LOTUS_5_Limkain_b1"
                     /note="The fifth LOTUS domain on Limkain b1(LKAP);
                     cd09981"
                     /db_xref="CDD:193595"
     Region          1333..1403
                     /region_name="LOTUS_6_Limkain_b1"
                     /note="The sixth LOTUS domain on Limkain b1(LKAP);
                     cd09982"
                     /db_xref="CDD:193596"
     Region          1409..1481
                     /region_name="LOTUS_7_Limkain_b1"
                     /note="The seventh LOTUS domain on Limkain b1(LKAP);
                     cd09983"
                     /db_xref="CDD:193597"
     Region          1484..1559
                     /region_name="LOTUS_8_Limkain_b1"
                     /note="The eighth LOTUS domain on Limkain b1(LKAP);
                     cd09984"
                     /db_xref="CDD:193598"
     Site            1568
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4F3.6)"
     Region          1674..1723
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4F3.6)"
     CDS             1..1739
                     /gene="MARF1"
                     /gene_synonym="KIAA0430; LKAP; LMKB; PPP1R34"
                     /coded_by="NM_001184999.2:196..5415"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS55991.1"
                     /db_xref="GeneID:9665"
                     /db_xref="HGNC:HGNC:29562"
                     /db_xref="MIM:614593"
ORIGIN      
        1 mmegngtens csrtrgwlqq dndakpwlwk fsncfsrpeq tlphspqtke ymenkkvave
       61 lkdvpsplha gsklfpavpl pdirslqqpk iqlssvpkvs ccahcpneps tspmrfgggg
      121 ggsggtssli hpgalldsqs trtitcqvgs gfafqsassl qnasarnnla giasdfpsmc
      181 lesnlssckh lpccgklhfq schgnvhklh qfpslqgcts agyfpcsdft sgapghleeh
      241 isqseltphl ctnslhlnvv ppvclkgsly cedclnkpar nsiidaakvw pnipppntqp
      301 aplavplcng cgtkgtgket tlllatslgk aaskfevava gqvlenlppi gvfwdiencs
      361 vpsgrsatav vqrirekffk ghreaeficv cdiskenkev iqelnncqvt vahinatakn
      421 aaddklrqsl rrfanthtap atvvlvstdv nfalelsdlr hrhgfhiilv hknqaseall
      481 hhanelirfe efisdlpprl plkmpqchtl lyvynlpank dgksvsnrlr rlsdncggkv
      541 lsitgcsail rfinqdsaer aqkrmenedv fgnriivsft pknrelcetk ssnaiadkvk
      601 spkklknpkl clikdaseqs ssakatpgkg sqansgsatk ntnvkslqel crmesktghr
      661 nsehqqghlr lvvpthgnss aavstpknsg vaepvyktsq kkenlsarsv tsspvekkdk
      721 eetvfqvsyp safsklvasr qvspllasqs wssrsmspnl lnrasplafn ianssseadc
      781 pdpfangadv qvsnidyrls rkelqqllqe afarhgkvks velsphtdyq lkavvqmenl
      841 qdaigavnsl hrykigskki lvslatgaas kslsllsaet msvlqdapac clplfkftdi
      901 yekkfghkln vsdlykltdt vaireqgngr lvcllpssqa rqsplgssqs hdgsstncsp
      961 iifeeleyhe pvcrqhcsnk dfsehefdpd sykipfvils lktfapqvhs llqthegtvp
     1021 llsfpdcyia efgdlevvqe nqggvplehf itcvpgvnia taqngikvvk wihnkppppn
     1081 tdpwllrsks pvgnpqliqf srevidllks qpscvipish fipsyhhhfa kqcrvsdygy
     1141 sklielleav phvlqilgmg skrlltlthr aqvkrftqdl lkllksqask qvivrefsqa
     1201 yhwcfskdwd vteygvceli divseipdtt iclsqqdnem vicipkrert qdeiertkqf
     1261 skdvvdllrh qphfrmpfnk fipsyhhhfg rqcklayygf tkllelfeai pdtlqvlecg
     1321 eekiltltev erfkalaaqf vkllrsqkdn clmmtdllte yaktfgytfr lqdydvssis
     1381 altqklchvv kvadiesgrq iqlinrkslr sltaqllvll mswegtthls veelkrhyes
     1441 thntplnpce ygfmtltell kslpylvevf tndkmeecvk ltslylfakn vrsllhtyhy
     1501 qqiflhefsm aytkyvgetl qpktyghssv eellgaipqv vwikghghkr ivvlkndmks
     1561 rlsslslspa nhenqpsege rilevpesht aselklgadg sgpshteqel lrltddspvd
     1621 llcapvpscl pspqlrpdpv ilqsadliqf eerpqepsei milnqeekme ipipgksktl
     1681 tsdsssscis aavpvppcps setsesllsk dpvespakkq pknrvklaan fslapitkl
//
LOCUS       NP_057268                237 aa            linear   PRI 28-DEC-2022
DEFINITION  C-type lectin domain family 4 member A isoform 1 [Homo sapiens].
ACCESSION   NP_057268
VERSION     NP_057268.1
DBSOURCE    REFSEQ: accession NM_016184.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 237)
  AUTHORS   Pakvisal N, Kongkavitoon P, Sathitruangsak C, Pornpattanarak N,
            Boonsirikamchai P, Ouwongprayoon P, Aporntewan C, Chantranuwatana
            P, Mutirangura A and Vinayanuwattikun C.
  TITLE     Differential expression of immune-regulatory proteins C5AR1, CLEC4A
            and NLRP3 on peripheral blood mononuclear cells in early-stage
            non-small cell lung cancer patients
  JOURNAL   Sci Rep 12 (1), 18439 (2022)
   PUBMED   36323738
  REMARK    GeneRIF: Differential expression of immune-regulatory proteins
            C5AR1, CLEC4A and NLRP3 on peripheral blood mononuclear cells in
            early-stage non-small cell lung cancer patients.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 237)
  AUTHORS   Kaifu T, Yabe R, Maruhashi T, Chung SH, Tateno H, Fujikado N,
            Hirabayashi J and Iwakura Y.
  TITLE     DCIR and its ligand asialo-biantennary N-glycan regulate DC
            function and osteoclastogenesis
  JOURNAL   J Exp Med 218 (12) (2021)
   PUBMED   34817551
  REMARK    GeneRIF: DCIR and its ligand asialo-biantennary N-glycan regulate
            DC function and osteoclastogenesis.
REFERENCE   3  (residues 1 to 237)
  AUTHORS   Nasu J, Uto T, Fukaya T, Takagi H, Fukui T, Miyanaga N, Nishikawa
            Y, Yamasaki S, Yamashita Y and Sato K.
  TITLE     Pivotal role of the carbohydrate recognition domain in
            self-interaction of CLEC4A to elicit the ITIM-mediated inhibitory
            function in murine conventional dendritic cells in vitro
  JOURNAL   Int Immunol 32 (10), 673-682 (2020)
   PUBMED   32415968
  REMARK    GeneRIF: Pivotal role of the carbohydrate recognition domain in
            self-interaction of CLEC4A to elicit the ITIM-mediated inhibitory
            function in murine conventional dendritic cells in vitro.
REFERENCE   4  (residues 1 to 237)
  AUTHORS   Lau D, Elezagic D, Hermes G, Morgelin M, Wohl AP, Koch M, Hartmann
            U, Hollriegl S, Wagener R, Paulsson M, Streichert T and Klatt AR.
  TITLE     The cartilage-specific lectin C-type lectin domain family 3 member
            A (CLEC3A) enhances tissue plasminogen activator-mediated
            plasminogen activation
  JOURNAL   J Biol Chem 293 (1), 203-214 (2018)
   PUBMED   29146595
  REMARK    GeneRIF: Authors have determined the structure, tissue
            distribution, and molecular function of the cartilage-specific
            lectin CLEC3A and show that CLEC3A binds to plasminogen and
            participates in tPA-mediated plasminogen activation.
REFERENCE   5  (residues 1 to 237)
  AUTHORS   Nagae M, Ikeda A, Hanashima S, Kojima T, Matsumoto N, Yamamoto K
            and Yamaguchi Y.
  TITLE     Crystal structure of human dendritic cell inhibitory receptor
            C-type lectin domain reveals the binding mode with N-glycan
  JOURNAL   FEBS Lett 590 (8), 1280-1288 (2016)
   PUBMED   27015765
  REMARK    Erratum:[FEBS Lett. 2016 May;590(10 ):1552. PMID: 27218798]
REFERENCE   6  (residues 1 to 237)
  AUTHORS   Ebner S, Sharon N and Ben-Tal N.
  TITLE     Evolutionary analysis reveals collective properties and specificity
            in the C-type lectin and lectin-like domain superfamily
  JOURNAL   Proteins 53 (1), 44-55 (2003)
   PUBMED   12945048
REFERENCE   7  (residues 1 to 237)
  AUTHORS   Richard M, Veilleux P, Rouleau M, Paquin R and Beaulieu AD.
  TITLE     The expression pattern of the ITIM-bearing lectin CLECSF6 in
            neutrophils suggests a key role in the control of inflammation
  JOURNAL   J Leukoc Biol 71 (5), 871-880 (2002)
   PUBMED   11994513
REFERENCE   8  (residues 1 to 237)
  AUTHORS   Huang X, Yuan Z, Chen G, Zhang M, Zhang W, Yu Y and Cao X.
  TITLE     Cloning and characterization of a novel ITIM containing lectin-like
            immunoreceptor LLIR and its two transmembrane region deletion
            variants
  JOURNAL   Biochem Biophys Res Commun 281 (1), 131-140 (2001)
   PUBMED   11178971
REFERENCE   9  (residues 1 to 237)
  AUTHORS   Drickamer K.
  TITLE     C-type lectin-like domains
  JOURNAL   Curr Opin Struct Biol 9 (5), 585-590 (1999)
   PUBMED   10508765
  REMARK    Review article
REFERENCE   10 (residues 1 to 237)
  AUTHORS   Bates EE, Fournier N, Garcia E, Valladeau J, Durand I, Pin JJ,
            Zurawski SM, Patel S, Abrams JS, Lebecque S, Garrone P and Saeland
            S.
  TITLE     APCs express DCIR, a novel C-type lectin surface receptor
            containing an immunoreceptor tyrosine-based inhibitory motif
  JOURNAL   J Immunol 163 (4), 1973-1983 (1999)
   PUBMED   10438934
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006511.5, AF067800.1,
            AJ133532.1 and AI400631.1.
            
            Summary: This gene encodes a member of the C-type lectin/C-type
            lectin-like domain (CTL/CTLD) superfamily. Members of this family
            share a common protein fold and have diverse functions, such as
            cell adhesion, cell-cell signalling, glycoprotein turnover, and
            roles in inflammation and immune response. The encoded type 2
            transmembrane protein may play a role in inflammatory and immune
            response. Multiple transcript variants encoding distinct isoforms
            have been identified for this gene. This gene is closely linked to
            other CTL/CTLD superfamily members on chromosome 12p13 in the
            natural killer gene complex region. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript, and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF067800.1, AF328684.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000229332.12/ ENSP00000229332.5
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..237
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     Protein         1..237
                     /product="C-type lectin domain family 4 member A isoform
                     1"
                     /note="C-type (calcium dependent, carbohydrate-recognition
                     domain) lectin, superfamily member 6; lectin-like
                     immunoreceptor; dendritic cell immunoreceptor; C-type
                     lectin DDB27; C-type lectin superfamily member 6"
                     /calculated_mol_wt=27381
     Region          5..10
                     /region_name="ITIM motif.
                     /evidence=ECO:0000269|PubMed:20530286"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMR7.1)"
     Site            49..69
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMR7.1)"
     Region          106..232
                     /region_name="CLECT_DC-SIGN_like"
                     /note="C-type lectin-like domain (CTLD) of the type found
                     in human dendritic cell (DC)-specific intercellular
                     adhesion molecule 3-grabbing non-integrin (DC-SIGN) and
                     the related receptor, DC-SIGN receptor (DC-SIGNR);
                     cd03590"
                     /db_xref="CDD:153060"
     Site            order(162,195,197,201,207..208,218..221)
                     /site_type="other"
                     /note="carbohydrate binding site"
                     /db_xref="CDD:153060"
     Site            order(169,173,198,201..202)
                     /site_type="other"
                     /note="calcium binding site 1 [ion binding]"
                     /db_xref="CDD:153060"
     Site            order(173,202)
                     /site_type="other"
                     /note="calcium binding site 3 [ion binding]"
                     /db_xref="CDD:153060"
     Site            185
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UMR7.1)"
     CDS             1..237
                     /gene="CLEC4A"
                     /gene_synonym="CD367; CLECSF6; DCIR; DDB27; HDCGC13P;
                     hDCIR; LLIR"
                     /coded_by="NM_016184.4:263..976"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS8590.1"
                     /db_xref="GeneID:50856"
                     /db_xref="HGNC:HGNC:13257"
                     /db_xref="MIM:605306"
ORIGIN      
        1 mtseityaev rfknefkssg intassaask ertaphksnt gfpkllcasl lifflllais
       61 ffiafviffq kysqllekkt tkelvhttle cvkknmpvee tawsccpknw ksfssncyfi
      121 stesaswqds ekdcarmeah llvintqeeq dfifqnlqee sayfvglsdp egqrhwqwvd
      181 qtpynesstf whprepsdpn ercvvlnfrk spkrwgwndv nclgpqrsvc emmkihl
//
LOCUS       NP_653228                125 aa            linear   PRI 29-DEC-2022
DEFINITION  TSSK6-activating co-chaperone protein isoform a [Homo sapiens].
ACCESSION   NP_653228
VERSION     NP_653228.1
DBSOURCE    REFSEQ: accession NM_144627.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 125)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 125)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 125)
  AUTHORS   Jha KN, Wong L, Zerfas PM, De Silva RS, Fan YX, Spiridonov NA and
            Johnson GR.
  TITLE     Identification of a novel HSP70-binding cochaperone critical to
            HSP90-mediated activation of small serine/threonine kinase
  JOURNAL   J Biol Chem 285 (45), 35180-35187 (2010)
   PUBMED   20829357
REFERENCE   4  (residues 1 to 125)
  AUTHORS   Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura
            Y and Kamatani N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   5  (residues 1 to 125)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL589685.17 and BC014605.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 3, 4, 5, and 6 all encode the same
            isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC014605.1, BI826537.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..125
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     Protein         1..125
                     /product="TSSK6-activating co-chaperone protein isoform a"
                     /note="SSTK-interacting protein (SSTK-IP);
                     TSSK6-activating co-chaperone protein; TSSK6 activating
                     co-chaperone"
                     /calculated_mol_wt=13539
     Region          1..125
                     /region_name="SSTK-IP"
                     /note="SSTK-interacting protein, TSSK6-activating
                     co-chaperone protein; pfam15836"
                     /db_xref="CDD:406308"
     Region          1..23
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A04.1)"
     Region          97..125
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A04.1)"
     CDS             1..125
                     /gene="TSACC"
                     /gene_synonym="C1orf182; SIP; SSTK-IP"
                     /coded_by="NM_144627.5:361..738"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS1141.1"
                     /db_xref="GeneID:128229"
                     /db_xref="HGNC:HGNC:30636"
                     /db_xref="MIM:619679"
ORIGIN      
        1 merhtshpnr kvpakeeana vplcrakpsp syinlqassp patflniqtt klpsvdhkpk
       61 eclgllecmy anlqlqtqla qqqmavlehl qasvtqlapg rgsnnsslpa lspnpllnhl
      121 pqfsk
//
LOCUS       NP_001009984            1177 aa            linear   PRI 29-DEC-2022
DEFINITION  dynein axonemal assembly factor 9 [Homo sapiens].
ACCESSION   NP_001009984
VERSION     NP_001009984.1
DBSOURCE    REFSEQ: accession NM_001009984.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1177)
  AUTHORS   Mali GR, Ali FA, Lau CK, Begum F, Boulanger J, Howe JD, Chen ZA,
            Rappsilber J, Skehel M and Carter AP.
  TITLE     Shulin packages axonemal outer dynein arms for ciliary targeting
  JOURNAL   Science 371 (6532), 910-916 (2021)
   PUBMED   33632841
REFERENCE   2  (residues 1 to 1177)
  AUTHORS   Thompson AJ, Clark PJ, Singh A, Ge D, Fellay J, Zhu M, Zhu Q, Urban
            TJ, Patel K, Tillmann HL, Naggie S, Afdhal NH, Jacobson IM, Esteban
            R, Poordad F, Lawitz EJ, McCone J, Shiffman ML, Galler GW, King JW,
            Kwo PY, Shianna KV, Noviello S, Pedicone LD, Brass CA, Albrecht JK,
            Sulkowski MS, Goldstein DB, McHutchison JG and Muir AJ.
  TITLE     Genome-wide association study of interferon-related cytopenia in
            chronic hepatitis C patients
  JOURNAL   J Hepatol 56 (2), 313-319 (2012)
   PUBMED   21703177
REFERENCE   3  (residues 1 to 1177)
  AUTHORS   Wright KJ, Baye LM, Olivier-Mason A, Mukhopadhyay S, Sang L, Kwong
            M, Wang W, Pretorius PR, Sheffield VC, Sengupta P, Slusarski DC and
            Jackson PK.
  TITLE     An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the
            primary cilium
  JOURNAL   Genes Dev 25 (22), 2347-2360 (2011)
   PUBMED   22085962
REFERENCE   4  (residues 1 to 1177)
  AUTHORS   Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu
            T, Liu W, Okuda H and Koizumi A.
  TITLE     Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes
            SCA36, a type of spinocerebellar ataxia accompanied by motor neuron
            involvement
  JOURNAL   Am J Hum Genet 89 (1), 121-130 (2011)
   PUBMED   21683323
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL117334.29, DB504338.1, CN285135.1, BC122529.1, AL109976.23 and
            AI214589.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes an uncharacterized protein with a
            C-terminal coiled-coil region. The gene is located on chromosome
            20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia
            phenotype, but this gene does not appear to be a disease candidate.
            [provided by RefSeq, Dec 2011].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. There are no human full-length
            transcripts representing this exon combination; it is predicted
            based on aligning partial transcripts and on full-length transcript
            support from mouse GeneID:228602.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2153805.1,
                                           SRR18074969.886737.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252032.10/ ENSP00000252032.9
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1177
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     Protein         1..1177
                     /product="dynein axonemal assembly factor 9"
                     /note="uncharacterized protein C20orf194; shulin"
                     /calculated_mol_wt=132156
     Region          1..27
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TEA3.1)"
     Region          29..1164
                     /region_name="shulin_C20orf194-like"
                     /note="Tetrahymena thermophila shulin, human
                     uncharacterized protein C20orf194, and similar proteins;
                     cd22936"
                     /db_xref="CDD:438574"
     CDS             1..1177
                     /gene="DNAAF9"
                     /gene_synonym="C20orf194"
                     /coded_by="NM_001009984.3:113..3646"
                     /db_xref="CCDS:CCDS42851.1"
                     /db_xref="GeneID:25943"
                     /db_xref="HGNC:HGNC:17721"
                     /db_xref="MIM:614146"
ORIGIN      
        1 mdvypprrqg lprarspggs srgspsvscs rlrqvqsilt qssksrpdgi lcilgidsry
       61 negcrelany llfglynqnt sdfektgfse evlddviili ksdsvhlycn pvnfryllpy
      121 vahwrnlhfh cmteneyede eaaeefkits fvdmvrdcsr igipyssqgh lqifdmfvve
      181 kwpivqafal egiggdgfft mkyelqdvsl nlwnvyskmd pmslesllsd dlvafehqwt
      241 sffanfdtei pfllelsesq agepfrsyfs hgmisshite nspnrqpfvl fgnhstrenl
      301 nagnfnfpse ghlvrstgpg gsfakhmvaq cvspkgplac srtyffgath vpylggdskl
      361 pkkteqirll sqiyaaviea vlagiacyak tssltkakev aeqtlgsgld sfelipfkaa
      421 lrskmtfhih avnnqgrivp ldsedslsfv ktacmavydi pdllggngcl gsvvfsesfl
      481 tsqilvkekd gtvttetssv vltaavprfc swlvednevk lsektqqavr gdesflgtyl
      541 tggegaylys snlqswpeeg nvhffssgll fshcrhrsii iskdhmnsis fydgdststv
      601 aallidfkss llphlpvhfh gssnflmial fpkskiyqaf ysevfslwkq qdnsgislkv
      661 iqedglsveq krlhssaqkl fsalsqpage krsslkllsa klpeldwflq hfaissisqe
      721 pvmrthlpvl lqqaeintth riesdkviis ivtglpgcha selcaflvtl hkecgrwmvy
      781 rqimdssecf haahfqryls saleaqqnrs arqsayirkk trllvvlqgy tdvidvvqal
      841 qthpdsnvka sftigaitac vepmscymeh rflfpkcldq csqglvsnvv ftshtteqrh
      901 pllvqlqsli raanpaaafi laengivtrn edielilsen sfsspemlrs rylmypgwye
      961 gklnagsvyp lmvqicvwfg rplektrfva kckaiqssik pspfsgniyh ilgkvkfsds
     1021 ertmevcynt lanslsimpv legptpppds ksvsqdssgq qecylvfigc slkedsikdw
     1081 lrqsakqkpq rkalktrgml tqqeirsihv krhleplpag yfyngtqfvn ffgdktdfhp
     1141 lmdqfmndyv eeanreieky nqeleqqeyh dlfelkp
//
LOCUS       NP_689664                438 aa            linear   PRI 29-DEC-2022
DEFINITION  myocardial zonula adherens protein isoform 2 [Homo sapiens].
ACCESSION   NP_689664 NP_001018111
VERSION     NP_689664.3
DBSOURCE    REFSEQ: accession NM_152451.8
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 438)
  AUTHORS   Pieperhoff S, Rickelt S, Heid H, Claycomb WC, Zimbelmann R, Kuhn C,
            Winter-Simanowski S, Kuhn C, Frey N and Franke WW.
  TITLE     The plaque protein myozap identified as a novel major component of
            adhering junctions in endothelia of the blood and the lymph
            vascular systems
  JOURNAL   J Cell Mol Med 16 (8), 1709-1719 (2012)
   PUBMED   21992629
REFERENCE   2  (residues 1 to 438)
  AUTHORS   Rickelt S, Kuhn C, Winter-Simanowski S, Zimbelmann R, Frey N and
            Franke WW.
  TITLE     Protein myozap--a late addition to the molecular ensembles of
            various kinds of adherens junctions
  JOURNAL   Cell Tissue Res 346 (3), 347-359 (2011)
   PUBMED   22160502
REFERENCE   3  (residues 1 to 438)
  AUTHORS   Huo L, Wen W, Wang R, Kam C, Xia J, Feng W and Zhang M.
  TITLE     Cdc42-dependent formation of the ZO-1/MRCKbeta complex at the
            leading edge controls cell migration
  JOURNAL   EMBO J 30 (4), 665-678 (2011)
   PUBMED   21240187
REFERENCE   4  (residues 1 to 438)
  AUTHORS   Garcia-Mayoral MF, Martinez-Moreno M, Albar JP, Rodriguez-Crespo I
            and Bruix M.
  TITLE     Structural basis for the interaction between dynein light chain 1
            and the glutamate channel homolog GRINL1A
  JOURNAL   FEBS J 277 (10), 2340-2350 (2010)
   PUBMED   20412299
REFERENCE   5  (residues 1 to 438)
  AUTHORS   Seeger TS, Frank D, Rohr C, Will R, Just S, Grund C, Lyon R, Luedde
            M, Koegl M, Sheikh F, Rottbauer W, Franke WW, Katus HA, Olson EN
            and Frey N.
  TITLE     Myozap, a novel intercalated disc protein, activates serum response
            factor-dependent signaling and is required to maintain cardiac
            function in vivo
  JOURNAL   Circ Res 106 (5), 880-890 (2010)
   PUBMED   20093627
REFERENCE   6  (residues 1 to 438)
  AUTHORS   Roginski RS, Goubaeva F, Mikami M, Fried-Cassorla E, Nair MR and
            Yang J.
  TITLE     GRINL1A colocalizes with N-methyl D-aspartate receptor NR1 subunit
            and reduces N-methyl D-aspartate toxicity
  JOURNAL   Neuroreport 19 (17), 1721-1726 (2008)
   PUBMED   18849881
REFERENCE   7  (residues 1 to 438)
  AUTHORS   Roginski RS, Mohan Raj BK, Birditt B and Rowen L.
  TITLE     The human GRINL1A gene defines a complex transcription unit, an
            unusual form of gene organization in eukaryotes
  JOURNAL   Genomics 84 (2), 265-276 (2004)
   PUBMED   15233991
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025271.7, AC090651.3 and
            KF456061.1.
            On or before Aug 8, 2006 this sequence version replaced
            NP_001018111.1, NP_689664.2.
            
            Summary: This gene encodes a protein that is abundantly expressed
            in cardiac tissue. The encoded protein localizes to intercalated
            discs in cardiomyocytes and functions as an activator of
            Rho-dependent serum-response factor signaling. Alternative splicing
            results in multiple transcript variants. Readthrough transcription
            also exists between this gene and the neighboring downstream gene
            POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is
            represented with GeneID: 145781. [provided by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (2, also known as Gup2) lacks an
            in-frame exon in the 3' coding region compared to variant 1. The
            encoded isoform (2) is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.210265.1,
                                           SRR14038191.1992549.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142363
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..438
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     Protein         1..438
                     /product="myocardial zonula adherens protein isoform 2"
                     /note="myocardium-enriched zonula adherens protein;
                     GRINL1A upstream protein; myocardial intercalated disc
                     protein; myocardium-enriched zonula occludens-1-associated
                     protein; myocardium-enriched ZO1-associated protein;
                     GRINL1A complex locus upstream"
                     /calculated_mol_wt=50782
     Region          105..>398
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..438
                     /gene="MYZAP"
                     /gene_synonym="GCOM1; Gup; MYOZAP"
                     /coded_by="NM_152451.8:132..1448"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS42044.1"
                     /db_xref="GeneID:100820829"
                     /db_xref="HGNC:HGNC:43444"
                     /db_xref="MIM:614071"
ORIGIN      
        1 mlrststvtl lsggaartpg apsrranvcr lrltvppesp vpeqcekkie rkeqlldlsn
       61 geptrklpqg vvygvvrrsd qnqqkemvvy gwstsqlkee mnyikdvrat lekvrkrmyg
      121 dydemrqkir qltqelsvsh aqqeylenhi qtqssaldrf namnsalasd siglqktlvd
      181 vtlensnikd qirnlqqtye asmdklrekq rqlevaqven qllkmkvess qeanaevmre
      241 mtkklysqye eklqeeqrkh saekeallee tnsflkaiee ankkmqaaei sleekdqrig
      301 eldrlierme kerhqlqlql lehetemsge ltdsdkeryq qleeasaslr erirhlddmv
      361 hcqqkkvkqm veennelqsr ldyltetqak tevetreigv gcdllpsqtg rtreivmpsr
      421 nytpytrvle ltmkktlt
//
LOCUS       NP_001274448             468 aa            linear   PRI 29-DEC-2022
DEFINITION  M-phase inducer phosphatase 2 isoform 7 [Homo sapiens].
ACCESSION   NP_001274448
VERSION     NP_001274448.1
DBSOURCE    REFSEQ: accession NM_001287519.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 468)
  AUTHORS   Xu J, Li D, Lu Y and Zheng TY.
  TITLE     Abeta monomers protect lens epithelial cells against oxidative
            stress by upregulating CDC25B
  JOURNAL   Free Radic Biol Med 175, 161-170 (2021)
   PUBMED   34478836
  REMARK    GeneRIF: Abeta monomers protect lens epithelial cells against
            oxidative stress by upregulating CDC25B.
REFERENCE   2  (residues 1 to 468)
  AUTHORS   Chen YC, Hsieh HH, Chang HC, Wang HC, Lin WJ and Lin JJ.
  TITLE     CDC25B induces cellular senescence and correlates with tumor
            suppression in a p53-dependent manner
  JOURNAL   J Biol Chem 296, 100564 (2021)
   PUBMED   33745968
  REMARK    GeneRIF: CDC25B induces cellular senescence and correlates with
            tumor suppression in a p53-dependent manner.
REFERENCE   3  (residues 1 to 468)
  AUTHORS   Wang P, Peng J, Gong Y and Shen N.
  TITLE     CDC25B is associated with the risk of hepatocellular carcinoma, but
            not related to persistent infection of hepatitis B virus in a
            Chinese population
  JOURNAL   Mol Biol Rep 47 (5), 3361-3368 (2020)
   PUBMED   32248384
  REMARK    GeneRIF: CDC25B is associated with the risk of hepatocellular
            carcinoma, but not related to persistent infection of hepatitis B
            virus in a Chinese population.
REFERENCE   4  (residues 1 to 468)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 468)
  AUTHORS   Liu J, Yu X, Yu H, Liu B, Zhang Z, Kong C and Li Z.
  TITLE     Knockdown of MAPK14 inhibits the proliferation and migration of
            clear cell renal cell carcinoma by downregulating the expression of
            CDC25B
  JOURNAL   Cancer Med 9 (3), 1183-1195 (2020)
   PUBMED   31856414
  REMARK    GeneRIF: Knockdown of MAPK14 inhibits the proliferation and
            migration of clear cell renal cell carcinoma by downregulating the
            expression of CDC25B.
REFERENCE   6  (residues 1 to 468)
  AUTHORS   Baldin V, Cans C, Superti-Furga G and Ducommun B.
  TITLE     Alternative splicing of the human CDC25B tyrosine phosphatase.
            Possible implications for growth control?
  JOURNAL   Oncogene 14 (20), 2485-2495 (1997)
   PUBMED   9188863
REFERENCE   7  (residues 1 to 468)
  AUTHORS   Conklin DS, Galaktionov K and Beach D.
  TITLE     14-3-3 proteins associate with cdc25 phosphatases
  JOURNAL   Proc Natl Acad Sci U S A 92 (17), 7892-7896 (1995)
   PUBMED   7644510
REFERENCE   8  (residues 1 to 468)
  AUTHORS   Galaktionov K and Beach D.
  TITLE     Specific activation of cdc25 tyrosine phosphatases by B-type
            cyclins: evidence for multiple roles of mitotic cyclins
  JOURNAL   Cell 67 (6), 1181-1194 (1991)
   PUBMED   1836978
REFERENCE   9  (residues 1 to 468)
  AUTHORS   Nagata A, Igarashi M, Jinno S, Suto K and Okayama H.
  TITLE     An additional homolog of the fission yeast cdc25+ gene occurs in
            humans and is highly expressed in some cancer cells
  JOURNAL   New Biol 3 (10), 959-968 (1991)
   PUBMED   1662986
REFERENCE   10 (residues 1 to 468)
  AUTHORS   Strausfeld U, Labbe JC, Fesquet D, Cavadore JC, Picard A, Sadhu K,
            Russell P and Doree M.
  TITLE     Dephosphorylation and activation of a p34cdc2/cyclin B complex in
            vitro by human CDC25 protein
  JOURNAL   Nature 351 (6323), 242-245 (1991)
   PUBMED   1828290
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX647988.1, BC051711.1,
            BM793120.1 and AL561439.3.
            
            Summary: CDC25B is a member of the CDC25 family of phosphatases.
            CDC25B activates the cyclin dependent kinase CDC2 by removing two
            phosphate groups and it is required for entry into mitosis. CDC25B
            shuttles between the nucleus and the cytoplasm due to nuclear
            localization and nuclear export signals. The protein is nuclear in
            the M and G1 phases of the cell cycle and moves to the cytoplasm
            during S and G2. CDC25B has oncogenic properties, although its role
            in tumor formation has not been determined. Multiple transcript
            variants for this gene exist. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (7) uses an alternate splice site
            in the 5' UTR which results in initiation of translation at a
            downstream start codon, compared to variant 1. The encoded protein
            (isoform 7) has a shorter N-terminus compared to isoform 1.
            Variants 7 and 8 encode the same isoform.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2705223.1, BX647988.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..468
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     Protein         1..468
                     /product="M-phase inducer phosphatase 2 isoform 7"
                     /EC_number="3.1.3.48"
                     /note="M-phase inducer phosphatase 2; dual specificity
                     phosphatase Cdc25B; CDC25 homolog B"
                     /calculated_mol_wt=53574
     Region          1..271
                     /region_name="M-inducer_phosp"
                     /note="M-phase inducer phosphatase; pfam06617"
                     /db_xref="CDD:429035"
     Region          300..419
                     /region_name="Cdc25"
                     /note="Cdc25 phosphatases are members of the Rhodanese
                     Homology Domain superfamily. They activate the cell
                     division kinases throughout the cell cycle progression.
                     Cdc25 phosphatases dephosphorylate phosphotyrosine and
                     phosphothreonine residues, in order to...; cd01530"
                     /db_xref="CDD:238788"
     Site            375..381
                     /site_type="active"
                     /note="oxyanion binding site [active]"
                     /db_xref="CDD:238788"
     Site            375
                     /site_type="active"
                     /note="active site residue [active]"
                     /db_xref="CDD:238788"
     CDS             1..468
                     /gene="CDC25B"
                     /coded_by="NM_001287519.2:186..1592"
                     /note="isoform 7 is encoded by transcript variant 7"
                     /db_xref="GeneID:994"
                     /db_xref="HGNC:HGNC:1726"
                     /db_xref="MIM:116949"
ORIGIN      
        1 mdspspmdph maeqtfeqai qaasriirne qfairrfqsm pvrllghspv lrnitnsqap
       61 dgrrkseags gaasssgedk endgfvfkmp wkpthpssth alaewasrre afaqrpssap
      121 dlmclspdrk meveelspla lgrfsltpae gdteeddgfv dilesdlkdd davppgmesl
      181 isaplvktle keeekdlvmy skcqrlfrsp smpcsvirpi lkrlerpqdr dtpvqnkrrr
      241 svtppeeqqe aeepkarvlr skslchdeie nlldsdhrel igdyskafll qtvdgkhqdl
      301 kyispetmva lltgkfsniv dkfvivdcry pyeyegghik tavnlplerd aesfllkspi
      361 apcsldkrvi lifhcefsse rgprmcrfir erdravndyp slyypemyil kggykeffpq
      421 hpnfcepqdy rpmnheafkd elktfrlktr swagersrre lcsrlqdq
//
LOCUS       NP_001339468             125 aa            linear   PRI 30-DEC-2022
DEFINITION  tyrosine-protein phosphatase non-receptor type 20 isoform 20 [Homo
            sapiens].
ACCESSION   NP_001339468
VERSION     NP_001339468.1
DBSOURCE    REFSEQ: accession NM_001352539.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 125)
  AUTHORS   van Eekelen M, Runtuwene V, Masselink W and den Hertog J.
  TITLE     Pair-wise regulation of convergence and extension cell movements by
            four phosphatases via RhoA
  JOURNAL   PLoS One 7 (4), e35913 (2012)
   PUBMED   22545146
REFERENCE   2  (residues 1 to 125)
  AUTHORS   Fodero-Tavoletti MT, Hardy MP, Cornell B, Katsis F, Sadek CM,
            Mitchell CA, Kemp BE and Tiganis T.
  TITLE     Protein tyrosine phosphatase hPTPN20a is targeted to sites of actin
            polymerization
  JOURNAL   Biochem J 389 (Pt 2), 343-354 (2005)
   PUBMED   15790311
  REMARK    GeneRIF: identification of hPTPN20a as a novel and widely expressed
            phosphatase with a dynamic subcellular distribution that is
            targeted to sites of actin polymerization
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX005072.20 and AL358791.24.
            
            Summary: The product of this gene belongs to the family of
            classical tyrosine-specific protein tyrosine phosphatases. Many
            protein tyrosine phosphatases have been shown to regulate
            fundamental cellular processes. The encoded protein appears to be
            targeted to sites of actin polymerization. A pseudogene of this
            gene has been defined on chromosome 10. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Apr
            2014].
            
            Transcript Variant: This variant (39), as well as variants 36-38,
            encodes isoform 20.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.1626213.1,
                                           SRR7410570.460049.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..125
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     Protein         1..125
                     /product="tyrosine-protein phosphatase non-receptor type
                     20 isoform 20"
                     /EC_number="3.1.3.48"
                     /note="protein tyrosine phosphatase, non-receptor type
                     20A; tyrosine-protein phosphatase non-receptor type 20;
                     protein tyrosine phosphatase, non-receptor type 20B"
                     /calculated_mol_wt=14499
     Region          <78..119
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     CDS             1..125
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /coded_by="NM_001352539.2:236..613"
                     /note="isoform 20 is encoded by transcript variant 39"
                     /db_xref="GeneID:26095"
                     /db_xref="HGNC:HGNC:23423"
                     /db_xref="MIM:610630"
ORIGIN      
        1 mwtargpfrr drwssedeea agpsqalspl lsdtrkivse geldqlaqir plifnfheqt
       61 aikdclkile ektaaydimq efmfnimdiv aqmreqrsgm vqtkeqyhfc ydivlevlrk
      121 lltld
//
LOCUS       NP_068802                110 aa            linear   PRI 30-DEC-2022
DEFINITION  small EDRK-rich factor 1 isoform 1 [Homo sapiens].
ACCESSION   NP_068802 XP_376398
VERSION     NP_068802.1
DBSOURCE    REFSEQ: accession NM_021967.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 110)
  AUTHORS   Pras A, Houben B, Aprile FA, Seinstra R, Gallardo R, Janssen L,
            Hogewerf W, Gallrein C, De Vleeschouwer M, Mata-Cabana A, Koopman
            M, Stroo E, de Vries M, Louise Edwards S, Kirstein J, Vendruscolo
            M, Falsone SF, Rousseau F, Schymkowitz J and Nollen EAA.
  TITLE     The cellular modifier MOAG-4/SERF drives amyloid formation through
            charge complementation
  JOURNAL   EMBO J 40 (21), e107568 (2021)
   PUBMED   34617299
  REMARK    GeneRIF: The cellular modifier MOAG-4/SERF drives amyloid formation
            through charge complementation.
REFERENCE   2  (residues 1 to 110)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 110)
  AUTHORS   Merle DA, Witternigg A, Tam-Amersdorfer C, Hartlmuller C, Spreitzer
            E, Schrank E, Wagner-Lichtenegger S, Werzer O, Zangger K, Kungl AJ,
            Madl T, Meyer NH and Falsone SF.
  TITLE     Increased Aggregation Tendency of Alpha-Synuclein in a Fully
            Disordered Protein Complex
  JOURNAL   J Mol Biol 431 (14), 2581-2598 (2019)
   PUBMED   31034892
REFERENCE   4  (residues 1 to 110)
  AUTHORS   Brkusanin M, Kosac A, Jovanovic V, Pesovic J, Brajuskovic G,
            Dimitrijevic N, Todorovic S, Romac S, Milic Rasic V and
            Savic-Pavicevic D.
  TITLE     Joint effect of the SMN2 and SERF1A genes on childhood-onset types
            of spinal muscular atrophy in Serbian patients
  JOURNAL   J Hum Genet 60 (11), 723-728 (2015)
   PUBMED   26311540
  REMARK    GeneRIF: Inverse correlation was observed between SMN2, SERF1A and
            NAIP copy number polymorphism and spinal muscular atrophy type.
REFERENCE   5  (residues 1 to 110)
  AUTHORS   Falsone SF, Meyer NH, Schrank E, Leitinger G, Pham CL,
            Fodero-Tavoletti MT, Holmberg M, Dulle M, Scicluna B, Gesslbauer B,
            Ruckert HM, Wagner GE, Merle DA, Nollen EA, Kungl AJ, Hill AF,
            Cappai R and Zangger K.
  TITLE     SERF protein is a direct modifier of amyloid fiber assembly
  JOURNAL   Cell Rep 2 (2), 358-371 (2012)
   PUBMED   22854022
  REMARK    GeneRIF: the autonomous amyloid-modifying activity of SERF1a
            observed in living organisms relies on a direct and dedicated
            manipulation of the early stages in the amyloid aggregation
            pathway.
REFERENCE   6  (residues 1 to 110)
  AUTHORS   van Ham TJ, Holmberg MA, van der Goot AT, Teuling E,
            Garcia-Arencibia M, Kim HE, Du D, Thijssen KL, Wiersma M,
            Burggraaff R, van Bergeijk P, van Rheenen J, Jerre van Veluw G,
            Hofstra RM, Rubinsztein DC and Nollen EA.
  TITLE     Identification of MOAG-4/SERF as a regulator of age-related
            proteotoxicity
  JOURNAL   Cell 142 (4), 601-612 (2010)
   PUBMED   20723760
  REMARK    GeneRIF: The human orthologs of MOAG-4, SERF2 and SERF1A, are
            ubiquitously expressed, consistent with a role in a general
            cellular pathway.
REFERENCE   7  (residues 1 to 110)
  AUTHORS   Arkblad E, Tulinius M, Kroksmark AK, Henricsson M and Darin N.
  TITLE     A population-based study of genotypic and phenotypic variability in
            children with spinal muscular atrophy
  JOURNAL   Acta Paediatr 98 (5), 865-872 (2009)
   PUBMED   19154529
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 110)
  AUTHORS   Endrizzi M, Huang S, Scharf JM, Kelter AR, Wirth B, Kunkel LM,
            Miller W and Dietrich WF.
  TITLE     Comparative sequence analysis of the mouse and human Lgn1/SMA
            interval
  JOURNAL   Genomics 60 (2), 137-151 (1999)
   PUBMED   10486205
REFERENCE   9  (residues 1 to 110)
  AUTHORS   Scharf JM, Endrizzi MG, Wetter A, Huang S, Thompson TG, Zerres K,
            Dietrich WF, Wirth B and Kunkel LM.
  TITLE     Identification of a candidate modifying gene for spinal muscular
            atrophy by comparative genomics
  JOURNAL   Nat Genet 20 (1), 83-86 (1998)
   PUBMED   9731538
REFERENCE   10 (residues 1 to 110)
  AUTHORS   Chen Q, Baird SD, Mahadevan M, Besner-Johnston A, Farahani R, Xuan
            J, Kang X, Lefebvre C, Ikeda JE, Korneluk RG and MacKenzie AE.
  TITLE     Sequence of a 131-kb region of 5q13.1 containing the spinal
            muscular atrophy candidate genes SMN and NAIP
  JOURNAL   Genomics 48 (1), 121-127 (1998)
   PUBMED   9503025
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139834.2.
            On Mar 8, 2004 this sequence version replaced XP_376398.1.
            
            Summary: This gene is part of a 500 kb inverted duplication on
            chromosome 5q13. This duplicated region contains at least four
            genes and repetitive elements which make it prone to rearrangements
            and deletions. The repetitiveness and complexity of the sequence
            have also caused difficulty in determining the organization of this
            genomic region. The duplication region includes both a telomeric
            and a centromeric copy of this gene. Deletions of this gene, the
            telomeric copy, often accompany deletions of the neighboring SMN1
            gene in spinal muscular atrophy (SMA) patients, and so it is
            thought that this gene may be a modifier of the SMA phenotype. The
            function of this protein is not known; however, it bears low-level
            homology with the RNA-binding domain of matrin-cyclophilin, a
            protein which colocalizes with small nuclear ribonucleoproteins
            (snRNPs) and the SMN1 gene product. Alternatively spliced
            transcripts have been documented but it is unclear whether
            alternative splicing occurs for both the centromeric and telomeric
            copies of the gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC035932.1, SRR14038197.92860.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..110
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     Protein         1..110
                     /product="small EDRK-rich factor 1 isoform 1"
                     /note="SMA modifier 1; spinal muscular atrophy-related
                     gene H4F5; small EDRK-rich factor 1; protein 4F5; small
                     EDRK-rich factor 1A (telomeric)"
                     /calculated_mol_wt=12218
     Region          1..61
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75920.1)"
     Region          1..37
                     /region_name="4F5"
                     /note="4F5 protein family; pfam04419"
                     /db_xref="CDD:398223"
     Region          11..17
                     /region_name="Required for SNCA binding.
                     /evidence=ECO:0000269|PubMed:31034892"
                     /note="propagated from UniProtKB/Swiss-Prot (O75920.1)"
     CDS             1..110
                     /gene="SERF1A"
                     /gene_synonym="4F5; FAM2A; H4F5; SERF1; SMAM1"
                     /coded_by="NM_021967.4:202..534"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS47228.1"
                     /db_xref="GeneID:8293"
                     /db_xref="HGNC:HGNC:10755"
                     /db_xref="MIM:603011"
ORIGIN      
        1 margnqrela rqknmkktqe iskgkrkeds ltasqrkqss ggqkseskms agphlplkap
       61 renpcfplpa aggsryylay gsitpisafv fvvffsvffp sfyedfccwi
//
LOCUS       NP_001186457            1246 aa            linear   PRI 30-DEC-2022
DEFINITION  uromodulin-like 1 isoform 4 [Homo sapiens].
ACCESSION   NP_001186457
VERSION     NP_001186457.3
DBSOURCE    REFSEQ: accession NM_001199528.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1246)
  AUTHORS   Zhu MM, Yap MK, Ho DW, Fung WY, Ng PW, Gu YS and Yip SP.
  TITLE     Investigating the relationship between UMODL1 gene polymorphisms
            and high myopia: a case-control study in Chinese
  JOURNAL   BMC Med Genet 13, 64 (2012)
   PUBMED   22857148
  REMARK    GeneRIF: It was shown that common UMODL1 polymorphisms are unlikely
            to be important in the genetic susceptibility to high myopia in Han
            Chinese.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1246)
  AUTHORS   Nishizaki R, Ota M, Inoko H, Meguro A, Shiota T, Okada E, Mok J,
            Oka A, Ohno S and Mizuki N.
  TITLE     New susceptibility locus for high myopia is linked to the
            uromodulin-like 1 (UMODL1) gene region on chromosome 21q22.3
  JOURNAL   Eye (Lond) 23 (1), 222-229 (2009)
   PUBMED   18535602
  REMARK    GeneRIF: result suggests that rs283971 is located in the frequent
            recombinant region on the UMODL1, and that this region might play a
            critical role in disease susceptibility to high myopia.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 1246)
  AUTHORS   Di Schiavi E, Riano E, Heye B, Bazzicalupo P and Rugarli EI.
  TITLE     UMODL1/Olfactorin is an extracellular membrane-bound molecule with
            a restricted spatial expression in olfactory and vomeronasal
            neurons
  JOURNAL   Eur J Neurosci 21 (12), 3291-3300 (2005)
   PUBMED   16026467
REFERENCE   4  (residues 1 to 1246)
  AUTHORS   Shibuya K, Nagamine K, Okui M, Ohsawa Y, Asakawa S, Minoshima S,
            Hase T, Kudoh J and Shimizu N.
  TITLE     Initial characterization of an uromodulin-like 1 gene on human
            chromosome 21q22.3
  JOURNAL   Biochem Biophys Res Commun 319 (4), 1181-1189 (2004)
   PUBMED   15194491
  REMARK    GeneRIF: Data report the isolation of a novel gene, designated
            UMODL1, similar to uromodulin (UMOD)/Tamm-Horsfall glycoprotein, on
            human chromosome 21q22.3.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001620.1, AP001621.1 and AP001622.1.
            On Jun 2, 2019 this sequence version replaced NP_001186457.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB051811.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1246
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..1246
                     /product="uromodulin-like 1 isoform 4"
                     /note="olfactorin"
                     /calculated_mol_wt=136397
     Region          45..85
                     /region_name="WAP"
                     /note="WAP-type (Whey Acidic Protein) 'four-disulfide
                     core'; pfam00095"
                     /db_xref="CDD:425463"
     Site            46..51
                     /site_type="inhibition"
                     /note="inhibitory loop"
                     /db_xref="CDD:238120"
     Region          192..>222
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          326..>402
                     /region_name="SEA"
                     /note="SEA domain; pfam01390"
                     /db_xref="CDD:426237"
     Region          435..465
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Region          631..700
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Region          724..811
                     /region_name="SEA"
                     /note="SEA domain; cl02507"
                     /db_xref="CDD:445803"
     Region          825..>856
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(825,828,844)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          921..1161
                     /region_name="Zona_pellucida"
                     /note="Zona pellucida-like domain; pfam00100"
                     /db_xref="CDD:425464"
     CDS             1..1246
                     /gene="UMODL1"
                     /coded_by="NM_001199528.4:479..4219"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS56214.1"
                     /db_xref="GeneID:89766"
                     /db_xref="HGNC:HGNC:12560"
                     /db_xref="MIM:613859"
ORIGIN      
        1 mvyrtqylvv evpesrnvtd ccegyeqlgl ycvlplnqsg qftsrpgacp aegpepstsp
       61 csldidcpgl ekccpwsggr ycmapapqap erdpvgswyn vtilvkmdfk elqqvdprll
      121 nhmrllhslv tsalqpmast vhhlhsapgn asttvsrlll glprplpvad vstllgdiak
      181 rvyevisvqv qdvnecfyee lnacsgrelc anlegsywcv chqeapatsp rklnlewedc
      241 ppvsdyvvln vtsdsfqvsw rlnstqnhtf hvrvyrgmel lrsartqsqa lavagleagv
      301 lyrvktsyqg cgadvsttlt iktnaqvfev tikivnhnlt ekllnrssve yqdfsrqllh
      361 evessfppvv sdlyrsgklr mqivslqags vvvrlkltvq dpgfpmgist lapilqplla
      421 stvfqidrqg trvqdwdecv dsaehdcspa awcinlegsy tcqcrttrda tpsragrace
      481 gdlvspmggg lsaatgvtvp glgtgtaalg lenftlspsp gypqgtpaag qawtpepspr
      541 rggsnvvgyd rnntgkgveq elqgnsimep pswpsptedp tghflwhatr stretllnpt
      601 wlrnedsgps gsvdlpltst ltalktpacv pvsigrimvs nvtstgfhla weadlamdst
      661 fqltltsmws pavvletwnt svtlsglepg vlhlveimak acgkegarah lkvrtaarkl
      721 igkvriknvr ysesfrnass qeyrdflelf frmvrgslpa tmcqhmdagg vrmevvsvtn
      781 gsivvefhll iiadvdvqev saafltafqt vpllevirgd tfiqdydece rkeddcvpgt
      841 scrntlgsft csceggapdf pveyserpce gdspgnetwa tsperpltta gtkaafvqgt
      901 sptpqglpqr lnltgavrvl ceiekvvvai qkrflqqesi pesslylshp scnvshsngt
      961 hvlleagwse cgtlmqsnmt ntvvrttlrn dlsqegiihh lkilspiyca fqndlltssg
     1021 ftlewgvyti iedlhgagnf vtemqlfigd spipqnysvs asddvrievg lyrqksnlkv
     1081 vltecwatps snardpitfs finnscpvpn tytnviengn snkaqfklri fsfindsivy
     1141 lhcklrvcme spgatckinc nnfrllqnse tsathqmswg plirsegepp haeaglgagy
     1201 vvlivvaifv lvagtatlli vryqrmngry nfkiqsnnfs yqvfye
//
LOCUS       NP_001288338             357 aa            linear   PRI 31-DEC-2022
DEFINITION  neutral alpha-glucosidase C isoform 2 [Homo sapiens].
ACCESSION   NP_001288338
VERSION     NP_001288338.1
DBSOURCE    REFSEQ: accession NM_001301409.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 357)
  AUTHORS   Qiu Z, Chu Q, Zhang W, Luo C and Quan S.
  TITLE     Level of neutral alpha-1,4-glucosidase in seminal plasma of Chinese
            men
  JOURNAL   Andrologia 50 (3) (2018)
   PUBMED   29282757
  REMARK    GeneRIF: Results showed that the level of NAG in normal men was
            significantly higher than that in subfertile and infertile men.
            Meanwhile, the level of NAG in subfertile men was significantly
            greater than that in infertile men
REFERENCE   2  (residues 1 to 357)
  AUTHORS   Lei B, Xing R, Zhou X, Lv D, Wan B, Shu F, Zhong L, Wu H and Mao X.
  TITLE     Neutral alpha-1,4-glucosidase and fructose levels contribute to
            discriminating obstructive and nonobstructive azoospermia in
            Chinese men with azoospermia
  JOURNAL   Andrologia 48 (6), 670-675 (2016)
   PUBMED   26610429
  REMARK    GeneRIF: our results indicated that neutral alpha glucosidase and
            fructose levels are contributed to discriminating obstructive and
            nonobstructive azoospermia in Chinese patients based on the
            histological types of testes.
REFERENCE   3  (residues 1 to 357)
  AUTHORS   Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanche H,
            Schreiber S and Nebel A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 357)
  AUTHORS   Oba-Shinjo SM, da Silva R, Andrade FG, Palmer RE, Pomponio RJ,
            Ciociola KM, S Carvalho M, Gutierrez PS, Porta G, Marrone CD, Munoz
            V, Grzesiuk AK, Llerena JC Jr, Berditchevsky CR, Sobreira C,
            Horovitz D, Hatem TP, Frota ER, Pecchini R, Kouyoumdjian JA,
            Werneck L, Amado VM, Camelo JS Jr, Mattaliano RJ and Marie SK.
  TITLE     Pompe disease in a Brazilian series: clinical and molecular
            analyses with identification of nine new mutations
  JOURNAL   J Neurol 256 (11), 1881-1890 (2009)
   PUBMED   19588081
  REMARK    GeneRIF: Analysis of Brazilian Pompe patients showed that sometimes
            the nature of the mutation (alpha-Glucosidases )matched the
            phenotype within this group.
REFERENCE   5  (residues 1 to 357)
  AUTHORS   Hirschhorn R, Huie ML and Kasper JS.
  TITLE     Computer assisted cloning of human neutral alpha-glucosidase C
            (GANC): a new paralog in the glycosyl hydrolase gene family 31
  JOURNAL   Proc Natl Acad Sci U S A 99 (21), 13642-13646 (2002)
   PUBMED   12370436
  REMARK    GeneRIF: in silico and physical cloning of two alleles of human
            neutral alpha-glucosidase (designated GANC on the human gene map)
REFERENCE   6  (residues 1 to 357)
  AUTHORS   Usuki F, Ishiura S, Nonaka I and Sugita H.
  TITLE     alpha-Glucosidase isoenzymes in normal and acid maltase-deficient
            human skeletal muscles
  JOURNAL   Muscle Nerve 11 (4), 365-371 (1988)
   PUBMED   3135493
REFERENCE   7  (residues 1 to 357)
  AUTHORS   Preobrazhenskaia,M.E. and Minakova,A.L.
  TITLE     [Comparative study of the alpha-glucosidase activity of lymphocytes
            and granulocytes of human peripheral blood]
  JOURNAL   Vopr Med Khim 30 (1), 77-82 (1984)
   PUBMED   6369775
REFERENCE   8  (residues 1 to 357)
  AUTHORS   Lukomskaia,I.S., Ushakova,N.A. and Kazlas,E.V.
  TITLE     [Soluble and membrane-bound neutral alpha-glucosidase from the
            human kidney]
  JOURNAL   Biokhimiia 48 (11), 1810-1819 (1983)
   PUBMED   6362728
REFERENCE   9  (residues 1 to 357)
  AUTHORS   Martiniuk,F. and Hirschhorn,R.
  TITLE     Human neutral alpha-glucosidase C: genetic polymorphism including a
            'null' allele
  JOURNAL   Am J Hum Genet 32 (4), 497-507 (1980)
   PUBMED   6994494
REFERENCE   10 (residues 1 to 357)
  AUTHORS   Martiniuk,F., Hirschhorn,R. and Smith,M.
  TITLE     Assignment of the gene for human neutral alpha-glucosidase C to
            chromosome 15
  JOURNAL   Cytogenet Cell Genet 27 (2-3), 168-175 (1980)
   PUBMED   6995030
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022468.5 and AK074330.1.
            
            Summary: Glycosyl hydrolase enzymes hydrolyse the glycosidic bond
            between two or more carbohydrates, or between a carbohydrate and a
            non-carbohydrate moiety. This gene encodes a member of glycosyl
            hydrolases family 31. This enzyme hydrolyses terminal, non-reducing
            1,4-linked alpha-D-glucose residues and releases alpha-D-glucose.
            This is a key enzyme in glycogen metabolism and its gene localizes
            to a chromosomal region (15q15) that is associated with
            susceptibility to diabetes. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, Aug 2014].
            
            Transcript Variant: This variant (2) lacks several exons in the 3'
            coding region, and contains an alternate 3' terminal exon, compared
            to variant 1. It encodes isoform 2 which is shorter, and has a
            distinct C-terminus, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074330.1, SRR14372080.2364777.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..357
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     Protein         1..357
                     /product="neutral alpha-glucosidase C isoform 2"
                     /EC_number="3.2.1.20"
                     /note="neutral alpha-glucosidase C"
                     /calculated_mol_wt=40121
     Region          213..352
                     /region_name="GH31_N"
                     /note="N-terminal domain of glycosyl hydrolase family 31
                     (GH31); cd14752"
                     /db_xref="CDD:270212"
     Site            252
                     /site_type="active"
                     /db_xref="CDD:270212"
     CDS             1..357
                     /gene="GANC"
                     /coded_by="NM_001301409.2:873..1946"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS76738.1"
                     /db_xref="GeneID:2595"
                     /db_xref="HGNC:HGNC:4139"
                     /db_xref="MIM:104180"
ORIGIN      
        1 meaavkeeis ledeavdkni frdcnkiafy rrqkqwlskk styqalldsv ttdedstrfq
       61 iineaskvpl laeiygiegn ifrlkineet plkprfevpd vltskpstvr liscsgdtgs
      121 liladgkgdl kchitanpfk vdlvseeevv isinslgqly fehlqilhkq raakeneeet
      181 svdtsqenqe dlglweekfg kfvdikangp ssigldfslh gfehlygipq haeshqlknt
      241 gdgdayrlyn ldvygyqiyd kmgiygsvpy llahklgrti gifwlnaset lveintepav
      301 eytltqmgpv aakqkvrsrt hvhwmsesgi idvflltgpt psdvfkqysh ltdigek
//
LOCUS       NP_001381240             670 aa            linear   PRI 31-DEC-2022
DEFINITION  polycomb protein SCMH1 isoform m [Homo sapiens].
ACCESSION   NP_001381240 XP_006710525
VERSION     NP_001381240.1
DBSOURCE    REFSEQ: accession NM_001394311.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 670)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 670)
  AUTHORS   Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM,
            Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML,
            Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI,
            Hakonarson H and Grant SF.
  TITLE     The role of height-associated loci identified in genome wide
            association studies in the determination of pediatric stature
  JOURNAL   BMC Med Genet 11, 96 (2010)
   PUBMED   20546612
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 670)
  AUTHORS   Sovio U, Bennett AJ, Millwood IY, Molitor J, O'Reilly PF, Timpson
            NJ, Kaakinen M, Laitinen J, Haukka J, Pillas D, Tzoulaki I, Molitor
            J, Hoggart C, Coin LJ, Whittaker J, Pouta A, Hartikainen AL,
            Freimer NB, Widen E, Peltonen L, Elliott P, McCarthy MI and
            Jarvelin MR.
  TITLE     Genetic determinants of height growth assessed longitudinally from
            infancy to adulthood in the northern Finland birth cohort 1966
  JOURNAL   PLoS Genet 5 (3), e1000409 (2009)
   PUBMED   19266077
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 670)
  AUTHORS   Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M,
            Freathy RM, Perry JR, Stevens S, Hall AS, Samani NJ, Shields B,
            Prokopenko I, Farrall M, Dominiczak A, Johnson T, Bergmann S,
            Beckmann JS, Vollenweider P, Waterworth DM, Mooser V, Palmer CN,
            Morris AD, Ouwehand WH, Zhao JH, Li S, Loos RJ, Barroso I, Deloukas
            P, Sandhu MS, Wheeler E, Soranzo N, Inouye M, Wareham NJ, Caulfield
            M, Munroe PB, Hattersley AT, McCarthy MI and Frayling TM.
  CONSRTM   Diabetes Genetics Initiative; Wellcome Trust Case Control
            Consortium; Cambridge GEM Consortium
  TITLE     Genome-wide association analysis identifies 20 loci that influence
            adult height
  JOURNAL   Nat Genet 40 (5), 575-583 (2008)
   PUBMED   18391952
REFERENCE   5  (residues 1 to 670)
  AUTHORS   Luo L, Yang X, Takihara Y, Knoetgen H and Kessel M.
  TITLE     The cell-cycle regulator geminin inhibits Hox function through
            direct and polycomb-mediated interactions
  JOURNAL   Nature 427 (6976), 749-753 (2004)
   PUBMED   14973489
REFERENCE   6  (residues 1 to 670)
  AUTHORS   Levine SS, Weiss A, Erdjument-Bromage H, Shao Z, Tempst P and
            Kingston RE.
  TITLE     The core of the polycomb repressive complex is compositionally and
            functionally conserved in flies and humans
  JOURNAL   Mol Cell Biol 22 (17), 6070-6078 (2002)
   PUBMED   12167701
REFERENCE   7  (residues 1 to 670)
  AUTHORS   Tomotsune D, Takihara Y, Berger J, Duhl D, Joo S, Kyba M, Shirai M,
            Ohta H, Matsuda Y, Honda BM, Simon J, Shimada K, Brock HW and
            Randazzo F.
  TITLE     A novel member of murine Polycomb-group proteins, Sex comb on
            midleg homolog protein, is highly conserved, and interacts with
            RAE28/mph1 in vitro
  JOURNAL   Differentiation 65 (4), 229-239 (1999)
   PUBMED   10653359
REFERENCE   8  (residues 1 to 670)
  AUTHORS   Berger J, Kurahashi H, Takihara Y, Shimada K, Brock HW and Randazzo
            F.
  TITLE     The human homolog of Sex comb on midleg (SCMH1) maps to chromosome
            1p34
  JOURNAL   Gene 237 (1), 185-191 (1999)
   PUBMED   10524249
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL606484.9, AL110502.1 and AL391730.13.
            On Apr 10, 2021 this sequence version replaced XP_006710525.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.4071583.1,
                                           SRR14038196.3328081.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000695335.1/ ENSP00000511813.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..670
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..670
                     /product="polycomb protein SCMH1 isoform m"
                     /note="polycomb protein SCMH1; sex comb on midleg homolog
                     1"
                     /calculated_mol_wt=74511
     Region          37..167
                     /region_name="MBT_SCMH1_rpt1"
                     /note="first malignant brain tumor (MBT) repeat found in
                     Polycomb protein sex comb on midleg homolog 1; cd20105"
                     /db_xref="CDD:439095"
     Region          172..246
                     /region_name="MBT_SCMH1_rpt2"
                     /note="second malignant brain tumor (MBT) repeat found in
                     Polycomb protein sex comb on midleg homolog 1 (SCMH1) and
                     similar proteins; cd20108"
                     /db_xref="CDD:439098"
     Site            order(187,190,192..193,195,211,214,218,244..246)
                     /site_type="other"
                     /note="methyllysine peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:439098"
     Region          <243..367
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          281..334
                     /region_name="RBR"
                     /note="RNA binding Region; pfam17208"
                     /db_xref="CDD:435787"
     Region          368..476
                     /region_name="SLED"
                     /note="SLED domain; pfam12140"
                     /db_xref="CDD:432357"
     Region          597..667
                     /region_name="SAM_Scm"
                     /note="SAM domain of Scm proteins of Polycomb group;
                     cd09578"
                     /db_xref="CDD:188977"
     Site            order(616,651..654,656..657,660,663)
                     /site_type="other"
                     /note="oligomer interface EH [polypeptide binding]"
                     /db_xref="CDD:188977"
     Site            order(628..632,634..635,638..639,642..643,645..648)
                     /site_type="other"
                     /note="oligomer interface ML [polypeptide binding]"
                     /db_xref="CDD:188977"
     CDS             1..670
                     /gene="SCMH1"
                     /gene_synonym="Scml3"
                     /coded_by="NM_001394311.1:366..2378"
                     /note="isoform m is encoded by transcript variant 22"
                     /db_xref="CCDS:CCDS90928.1"
                     /db_xref="GeneID:22955"
                     /db_xref="HGNC:HGNC:19003"
                     /db_xref="MIM:616396"
ORIGIN      
        1 mqpnvidwsd vrkhkyghls esasqyqeaa dildlghftw dkylketcsv papvhcfkqs
       61 ytppsnefki smkleaqdpr nttstciatv vgltgarlrl rldgsdnknd fwrlvdsaei
      121 qpigncekng gmlqpplgfr lnasswpmfl lktlngaema pirifhkepp spshnffkmg
      181 mkleavdrkn phficpatig evrgsevlvt fdgwrgafdy wcrfdsrdif pvgwcsltgd
      241 nlqppgtkvv ipknpypasd vntekpsihs stktvlehqp gqrgrkpgkk rgrtpktlis
      301 hpisapskta eplkfpkkrg pkpgskrkpr tllnpppasp ttstpepdts tvpqdaatip
      361 ssamqaptvc iylnkngstg phldkkkvqq lpdhfgpara svvlqqavqa cidcayhqkt
      421 vfsflkqghg gevisavfdr eqhtlnlpav nsityvlrfl eklchnlrsd nlfgnqpftq
      481 thlsltaiey shshdrylpg etfvlgnsla rslephsdsm dsasnptnlv stsqrhrpll
      541 sscglppsta savrrlcsrg vlkgsnerrd mesfwklnrs pgsdrylesr dasrlsgrdp
      601 sswtvedvmq fvreadpqlg phadlfrkhe idgkallllr sdmmmkymgl klgpalklsy
      661 hidrlkqgkf
//
LOCUS       NP_001392818             234 aa            linear   PRI 01-JAN-2023
DEFINITION  fas apoptotic inhibitory molecule 3 isoform k precursor [Homo
            sapiens].
ACCESSION   NP_001392818
VERSION     NP_001392818.1
DBSOURCE    REFSEQ: accession NM_001405889.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 234)
  AUTHORS   Kubagawa H, Skopnik CM, Al-Qaisi K, Calvert RA, Honjo K, Kubagawa
            Y, Teuber R, Aliabadi PM, Enghard P, Radbruch A and Sutton BJ.
  TITLE     Differences between Human and Mouse IgM Fc Receptor (FcmicroR)
  JOURNAL   Int J Mol Sci 22 (13), 7024 (2021)
   PUBMED   34209905
  REMARK    GeneRIF: Differences between Human and Mouse IgM Fc Receptor
            (FcmicroR).
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 234)
  AUTHORS   Zhang YR, Yu Z, Xiong WJ, Liu XX, Liu HM, Cui R, Wang Q, Chen WM,
            Qiu LG and Yi SH.
  TITLE     TOSO interacts with SYK and enhances BCR pathway activation in
            chronic lymphocytic leukemia
  JOURNAL   Chin Med J (Engl) 133 (17), 2090-2097 (2020)
   PUBMED   32784334
  REMARK    GeneRIF: TOSO interacts with SYK and enhances BCR pathway
            activation in chronic lymphocytic leukemia.
REFERENCE   3  (residues 1 to 234)
  AUTHORS   Jiang J, Wu RH, Zhou HL, Li ZM, Kou D, Deng Z, Dong M and Chen LH.
  TITLE     TGIF2 promotes cervical cancer metastasis by negatively regulating
            FCMR
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (11), 5953-5962 (2020)
   PUBMED   32572908
  REMARK    GeneRIF: TGIF2 promotes cervical cancer metastasis by negatively
            regulating FCMR.
REFERENCE   4  (residues 1 to 234)
  AUTHORS   Nyamboya RA, Sutton BJ and Calvert RA.
  TITLE     Mapping of the binding site for FcmuR in human IgM-Fc
  JOURNAL   Biochim Biophys Acta Proteins Proteom 1868 (1), 140266 (2020)
   PUBMED   31449905
  REMARK    GeneRIF: We conclude that glutamine at position 510 in Cmu4 is
            critical for IgM binding to FcmuR. This will facilitate
            discrimination between the distinct effects of FcmuR interactions
            with soluble IgM and with the IgM BCR.
REFERENCE   5  (residues 1 to 234)
  AUTHORS   Kubagawa H, Carroll MC, Jacob CO, Lang KS, Lee KH, Mak T, McAndrews
            M, Morse HC 3rd, Nolan GP, Ohno H, Richter GH, Seal R, Wang JY,
            Wiestner A and Coligan JE.
  TITLE     Nomenclature of Toso, Fas apoptosis inhibitory molecule 3, and IgM
            FcR
  JOURNAL   J Immunol 194 (9), 4055-4057 (2015)
   PUBMED   25888699
REFERENCE   6  (residues 1 to 234)
  AUTHORS   Pallasch CP, Schulz A, Kutsch N, Schwamb J, Hagist S, Kashkar H,
            Ultsch A, Wickenhauser C, Hallek M and Wendtner CM.
  TITLE     Overexpression of TOSO in CLL is triggered by B-cell receptor
            signaling and associated with progressive disease
  JOURNAL   Blood 112 (10), 4213-4219 (2008)
   PUBMED   18708628
  REMARK    GeneRIF: association with unmutated IgV(H) and the specific
            induction of TOSO via the BCR suggest autoreactive BCR signaling as
            a key mediator of apoptosis resistance in CLL.
            Erratum:[Blood. 2018 May 17;131(20):2272. PMID: 29773545]
REFERENCE   7  (residues 1 to 234)
  AUTHORS   Proto-Siqueira R, Panepucci RA, Careta FP, Lee A, Clear A, Morris
            K, Owen C, Rizzatti EG, Silva WA Jr, Falcao RP, Zago MA and Gribben
            JG.
  TITLE     SAGE analysis demonstrates increased expression of TOSO
            contributing to Fas-mediated resistance in CLL
  JOURNAL   Blood 112 (2), 394-397 (2008)
   PUBMED   18434611
  REMARK    GeneRIF: demonstrated a 5.6-fold increase of TOSO protein in
            circulating CLL cells and lymph nodes
REFERENCE   8  (residues 1 to 234)
  AUTHORS   Sigruener A, Buechler C, Bared SM, Grandl M, Aslanidis C, Ugocsai
            P, Gehrmann M and Schmitz G.
  TITLE     E-LDL upregulates TOSO expression and enhances the survival of
            human macrophages
  JOURNAL   Biochem Biophys Res Commun 359 (3), 723-728 (2007)
   PUBMED   17553462
  REMARK    GeneRIF: enzymatically modified-LDL-generated foam cells are
            protected from cell death most likely through the expression of
            TOSO by a FLIP(L) independent mechanism
REFERENCE   9  (residues 1 to 234)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   10 (residues 1 to 234)
  AUTHORS   Hitoshi Y, Lorens J, Kitada SI, Fisher J, LaBarge M, Ring HZ,
            Francke U, Reed JC, Kinoshita S and Nolan GP.
  TITLE     Toso, a cell surface, specific regulator of Fas-induced apoptosis
            in T cells
  JOURNAL   Immunity 8 (4), 461-471 (1998)
   PUBMED   9586636
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC098935.2.
            
            Summary: Fc receptors specifically bind to the Fc region of
            immunoglobulins (Igs) to mediate the unique functions of each Ig
            class. FAIM3 encodes an Fc receptor for IgM (see MIM 147020)
            (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010
            [PubMed 20042454]).[supplied by OMIM, Jul 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..234
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     Protein         1..234
                     /product="fas apoptotic inhibitory molecule 3 isoform k
                     precursor"
                     /note="Fc fragment of IgM receptor; IgM Fc receptor;
                     immunoglobulin mu Fc receptor; regulator of Fas-induced
                     apoptosis Toso; Fas apoptotic inhibitory molecule 3; IgM
                     Fc fragment receptor"
                     /calculated_mol_wt=23666
     sig_peptide     1..16
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1942
     Region          24..121
                     /region_name="IgV_pIgR_like"
                     /note="Immunoglobulin (Ig)-like domain in the polymeric Ig
                     receptor (pIgR) and similar proteins; cd05716"
                     /db_xref="CDD:409381"
     Region          24..37
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409381"
     Region          24..29
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409381"
     Region          31..38
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409381"
     Region          38..44
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409381"
     Region          44..49
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409381"
     Site            44..46
                     /site_type="other"
                     /note="CDR1-dIgA binding residues [polypeptide binding]"
                     /db_xref="CDD:409381"
     Region          45..49
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409381"
     Region          50..69
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409381"
     Region          59..63
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409381"
     Region          67..69
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409381"
     Region          75..106
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409381"
     Region          75..81
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409381"
     Region          85..93
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409381"
     Site            92
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q5M871; propagated from
                     UniProtKB/Swiss-Prot (O60667.1)"
     Region          99..106
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409381"
     Region          107..115
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409381"
     Region          115..121
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409381"
     Region          115..121
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409381"
     CDS             1..234
                     /gene="FCMR"
                     /gene_synonym="FAIM3; FcmuR; TOSO"
                     /coded_by="NM_001405889.1:88..792"
                     /note="isoform k precursor is encoded by transcript
                     variant 15"
                     /db_xref="GeneID:9214"
                     /db_xref="HGNC:HGNC:14315"
                     /db_xref="MIM:606015"
ORIGIN      
        1 mdfwlwplyf lpvsgalril pevkvegelg gsvtikcplp emhvriylcr emagsgtcgt
       61 vvsttnfika eykgrvtlkq yprknlflve vtqltesdsg vyacgagmnt drgktqkvtl
      121 nvhsalsrra rrlavrmral essqrprgsp rprsqnniys acprrargad aagtgeapvp
      181 gpgaplppap lqvsespwlh apslktscey vslyhqpaam medsdsddyi nvpa
//
LOCUS       NP_001399111             294 aa            linear   PRI 01-JAN-2023
DEFINITION  S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase
            TYW1B isoform 5 [Homo sapiens].
ACCESSION   NP_001399111
VERSION     NP_001399111.1
DBSOURCE    REFSEQ: accession NM_001412182.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 294)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 294)
  AUTHORS   Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni
            S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS,
            Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R,
            Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K,
            Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K,
            Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen
            M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson
            PKE, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte
            IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena
            R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ,
            Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik
            EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher
            D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL,
            Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney ASF, Doring
            A, Elliott P, Epstein SE, Ingi Eyjolfsson G, Gigante B, Goodarzi
            MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL,
            Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones
            MR, Kaleebu P, Kastelein JJP, Khaw KT, Kim E, Klopp N, Komulainen
            P, Kumari M, Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos
            RJF, Mach F, McArdle WL, Meisinger C, Mitchell BD, Muller G,
            Nagaraja R, Narisu N, Nieminen TVM, Nsubuga RN, Olafsson I, Ong KK,
            Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP,
            Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl
            H, Seeley J, Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret
            L, Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga
            C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH,
            Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud
            M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier
            M, Campbell H, Chakravarti A, Chambers JC, Chen YI, Collins FS,
            Cooper RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrieres
            J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V,
            Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN,
            Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K,
            Iribarren C, Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A,
            Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J,
            Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz
            W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L,
            Morris AD, Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller
            PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D,
            Salomaa V, Sanghera DK, Saramies J, Schwarz PEH, Sheu WH, Shuldiner
            AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO,
            Tremoli E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P,
            Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BHR, Ordovas
            JM, Boerwinkle E, Palmer CNA, Thorsteinsdottir U, Chasman DI,
            Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS,
            Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E and
            Abecasis GR.
  CONSRTM   Global Lipids Genetics Consortium
  TITLE     Discovery and refinement of loci associated with lipid levels
  JOURNAL   Nat Genet 45 (11), 1274-1283 (2013)
   PUBMED   24097068
REFERENCE   3  (residues 1 to 294)
  AUTHORS   Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM,
            Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ,
            Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts
            SL, Bis JC, Aulchenko YS, Thorleifsson G, Feitosa MF, Chambers J,
            Orho-Melander M, Melander O, Johnson T, Li X, Guo X, Li M, Shin Cho
            Y, Jin Go M, Jin Kim Y, Lee JY, Park T, Kim K, Sim X, Twee-Hee Ong
            R, Croteau-Chonka DC, Lange LA, Smith JD, Song K, Hua Zhao J, Yuan
            X, Luan J, Lamina C, Ziegler A, Zhang W, Zee RY, Wright AF,
            Witteman JC, Wilson JF, Willemsen G, Wichmann HE, Whitfield JB,
            Waterworth DM, Wareham NJ, Waeber G, Vollenweider P, Voight BF,
            Vitart V, Uitterlinden AG, Uda M, Tuomilehto J, Thompson JR, Tanaka
            T, Surakka I, Stringham HM, Spector TD, Soranzo N, Smit JH,
            Sinisalo J, Silander K, Sijbrands EJ, Scuteri A, Scott J,
            Schlessinger D, Sanna S, Salomaa V, Saharinen J, Sabatti C,
            Ruokonen A, Rudan I, Rose LM, Roberts R, Rieder M, Psaty BM,
            Pramstaller PP, Pichler I, Perola M, Penninx BW, Pedersen NL,
            Pattaro C, Parker AN, Pare G, Oostra BA, O'Donnell CJ, Nieminen MS,
            Nickerson DA, Montgomery GW, Meitinger T, McPherson R, McCarthy MI,
            McArdle W, Masson D, Martin NG, Marroni F, Mangino M, Magnusson PK,
            Lucas G, Luben R, Loos RJ, Lokki ML, Lettre G, Langenberg C, Launer
            LJ, Lakatta EG, Laaksonen R, Kyvik KO, Kronenberg F, Konig IR, Khaw
            KT, Kaprio J, Kaplan LM, Johansson A, Jarvelin MR, Janssens AC,
            Ingelsson E, Igl W, Kees Hovingh G, Hottenga JJ, Hofman A, Hicks
            AA, Hengstenberg C, Heid IM, Hayward C, Havulinna AS, Hastie ND,
            Harris TB, Haritunians T, Hall AS, Gyllensten U, Guiducci C, Groop
            LC, Gonzalez E, Gieger C, Freimer NB, Ferrucci L, Erdmann J,
            Elliott P, Ejebe KG, Doring A, Dominiczak AF, Demissie S, Deloukas
            P, de Geus EJ, de Faire U, Crawford G, Collins FS, Chen YD,
            Caulfield MJ, Campbell H, Burtt NP, Bonnycastle LL, Boomsma DI,
            Boekholdt SM, Bergman RN, Barroso I, Bandinelli S, Ballantyne CM,
            Assimes TL, Quertermous T, Altshuler D, Seielstad M, Wong TY, Tai
            ES, Feranil AB, Kuzawa CW, Adair LS, Taylor HA Jr, Borecki IB,
            Gabriel SB, Wilson JG, Holm H, Thorsteinsdottir U, Gudnason V,
            Krauss RM, Mohlke KL, Ordovas JM, Munroe PB, Kooner JS, Tall AR,
            Hegele RA, Kastelein JJ, Schadt EE, Rotter JI, Boerwinkle E,
            Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ,
            Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn
            CM, Peltonen L, Abecasis GR, Boehnke M and Kathiresan S.
  TITLE     Biological, clinical and population relevance of 95 loci for blood
            lipids
  JOURNAL   Nature 466 (7307), 707-713 (2010)
   PUBMED   20686565
REFERENCE   4  (residues 1 to 294)
  AUTHORS   Noma A and Suzuki T.
  TITLE     Ribonucleome analysis identified enzyme genes responsible for
            wybutosine synthesis
  JOURNAL   Nucleic Acids Symp Ser (Oxf) (50), 65-66 (2006)
   PUBMED   17150819
REFERENCE   5  (residues 1 to 294)
  AUTHORS   Waas WF, de Crecy-Lagard V and Schimmel P.
  TITLE     Discovery of a gene family critical to wyosine base formation in a
            subset of phenylalanine-specific transfer RNAs
  JOURNAL   J Biol Chem 280 (45), 37616-37622 (2005)
   PUBMED   16162496
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC211469.4, AC091738.4 and
            AC092536.3.
            
            Summary: Wybutosine is a hypermodified guanosine found in
            phenylalanine tRNA. Wybutosine functions to stabilize
            codon-anticodon interactions during ribosome decoding and therefore
            supports the maintenance of the reading frame. In yeast, the
            homolog of this gene is essential for the synthesis of wybutosine.
            The human genome contains two closely related genes that putatively
            function in wybutosine synthesis. The open reading frame of this
            locus is disrupted in some individuals. Thus, this locus appears to
            be an evolving pseudogene, but may still be functional in some
            members of the population. [provided by RefSeq, Apr 2014].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.3498091.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMN03267769
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..294
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.22-q11.23"
     Protein         1..294
                     /product="S-adenosyl-L-methionine-dependent tRNA
                     4-demethylwyosine synthase TYW1B isoform 5"
                     /EC_number="4.1.3.44"
                     /note="radical S-adenosyl methionine and flavodoxin
                     domains 1; tRNA-yW synthesizing protein 1 homolog B
                     (non-protein coding); tRNA wybutosine-synthesizing protein
                     1 homolog B; radical S-adenosyl methionine and flavodoxin
                     domain-containing protein 2; long intergenic non-protein
                     coding RNA 69; S-adenosyl-L-methionine-dependent tRNA
                     4-demethylwyosine synthase TYW1B"
                     /calculated_mol_wt=33959
     Region          2..228
                     /region_name="Tyw1"
                     /note="Wyosine [tRNA(Phe)-imidazoG37] synthetase, radical
                     SAM superfamily [Translation, ribosomal structure and
                     biogenesis]; COG0731"
                     /db_xref="CDD:223803"
     CDS             1..294
                     /gene="TYW1B"
                     /gene_synonym="LINC00069; NCRNA00069; RSAFD2"
                     /coded_by="NM_001412182.1:184..1068"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:441250"
                     /db_xref="HGNC:HGNC:33908"
ORIGIN      
        1 mdqpemilke aienhqnmik qfkgvpgvka erfeegmtvk hcalslvgep imypeinrfl
       61 kllhqckiss flvtnaqfpa eirnlepvtq lyvsvdastk dslkkidrpl fkdfwqqfld
      121 slkalavkqq rtvyrlmlvk awnvdelqay aqlvslgnpd fievkgvtyc ressassltm
      181 ahvpwheevv qfvrelvdli peyeiacehe hsnclliahr kfkiggewwt widynrfqel
      241 iqeyedsggs ktfsakdyma rtphwalfga nersfdpkdt rhqrknkska isgc
//
LOCUS       NP_001401288             155 aa            linear   PRI 01-JAN-2023
DEFINITION  microsomal glutathione S-transferase 1 isoform a [Homo sapiens].
ACCESSION   NP_001401288
VERSION     NP_001401288.1
DBSOURCE    REFSEQ: accession NM_001414359.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 155)
  AUTHORS   Yang B, Xia S, Ye X, Jing W and Wu B.
  TITLE     MiR-379-5p targets microsomal glutathione transferase 1 (MGST1) to
            regulate human glioma in cell proliferation, migration and invasion
            and epithelial-mesenchymal transition (EMT)
  JOURNAL   Biochem Biophys Res Commun 568, 8-14 (2021)
   PUBMED   34171541
  REMARK    GeneRIF: MiR-379-5p targets microsomal glutathione transferase 1
            (MGST1) to regulate human glioma in cell proliferation, migration
            and invasion and epithelial-mesenchymal transition (EMT).
REFERENCE   2  (residues 1 to 155)
  AUTHORS   Kuang F, Liu J, Xie Y, Tang D and Kang R.
  TITLE     MGST1 is a redox-sensitive repressor of ferroptosis in pancreatic
            cancer cells
  JOURNAL   Cell Chem Biol 28 (6), 765-775 (2021)
   PUBMED   33539732
  REMARK    GeneRIF: MGST1 is a redox-sensitive repressor of ferroptosis in
            pancreatic cancer cells.
REFERENCE   3  (residues 1 to 155)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 155)
  AUTHORS   Zeng B, Ge C, Li R, Zhang Z, Fu Q, Li Z, Lin Z, Liu L, Xue Y, Xu Y,
            He J, Guo H, Li C, Huang W, Song X and Huang Y.
  TITLE     Knockdown of microsomal glutathione S-transferase 1 inhibits lung
            adenocarcinoma cell proliferation and induces apoptosis
  JOURNAL   Biomed Pharmacother 121, 109562 (2020)
   PUBMED   31707341
  REMARK    GeneRIF: MGST1 plays an important role in lung adenocarcinoma
            (LUAD)tumorigenesis and might serve as a potential prognostic
            factor and therapeutic target in LUAD.
REFERENCE   5  (residues 1 to 155)
  AUTHORS   Konda VJA and Souza RF.
  TITLE     Biomarkers of Barrett's Esophagus: From the Laboratory to Clinical
            Practice
  JOURNAL   Dig Dis Sci 63 (8), 2070-2080 (2018)
   PUBMED   29713984
  REMARK    GeneRIF: Significant association for germline variations only in
            the COX pathway (specifically in the antioxidant microsomal
            glutathione S-transferase 1 [MGST1] gene), with risk for Barrett's
            esophagus and the combined outcome of Barrett's esophagus and
            esophageal adenocarcinoma was found.
            Review article
REFERENCE   6  (residues 1 to 155)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   7  (residues 1 to 155)
  AUTHORS   Soderstrom M, Morgenstern R and Hammarstrom S.
  TITLE     Protein-protein interaction affinity chromatography of leukotriene
            C4 synthase
  JOURNAL   Protein Expr Purif 6 (3), 352-356 (1995)
   PUBMED   7663172
REFERENCE   8  (residues 1 to 155)
  AUTHORS   Cholon A, Giaccia AJ, Lewis AD, Hickson I and Brown JM.
  TITLE     What role do glutathione S-transferases play in the cellular
            response to ionizing radiation?
  JOURNAL   Int J Radiat Oncol Biol Phys 22 (4), 759-763 (1992)
   PUBMED   1544849
REFERENCE   9  (residues 1 to 155)
  AUTHORS   DeJong JL, Mohandas T and Tu CP.
  TITLE     The gene for the microsomal glutathione S-transferase is on human
            chromosome 12
  JOURNAL   Genomics 6 (2), 379-382 (1990)
   PUBMED   2307478
REFERENCE   10 (residues 1 to 155)
  AUTHORS   DeJong JL, Morgenstern R, Jornvall H, DePierre JW and Tu CP.
  TITLE     Gene expression of rat and human microsomal glutathione
            S-transferases
  JOURNAL   J Biol Chem 263 (17), 8430-8436 (1988)
   PUBMED   3372534
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007528.5.
            
            Summary: The MAPEG (Membrane Associated Proteins in Eicosanoid and
            Glutathione metabolism) family consists of six human proteins, two
            of which are involved in the production of leukotrienes and
            prostaglandin E, important mediators of inflammation. Other family
            members, demonstrating glutathione S-transferase and peroxidase
            activities, are involved in cellular defense against toxic,
            carcinogenic, and pharmacologically active electrophilic compounds.
            This gene encodes a protein that catalyzes the conjugation of
            glutathione to electrophiles and the reduction of lipid
            hydroperoxides. This protein is localized to the endoplasmic
            reticulum and outer mitochondrial membrane where it is thought to
            protect these membranes from oxidative stress. Several transcript
            variants, some non-protein coding and some protein coding, have
            been found for this gene. [provided by RefSeq, May 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR12514508.631157.1,
                                           DRR138522.464085.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..155
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.3"
     Protein         1..155
                     /product="microsomal glutathione S-transferase 1 isoform
                     a"
                     /EC_number="2.5.1.18"
                     /note="glutathione S-transferase 12; microsomal GST-1;
                     microsomal GST-I; peritoneal metastasis associated long
                     noncoding RNA"
                     /calculated_mol_wt=17468
     Site            10..33
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P10620.1)"
     Region          16..149
                     /region_name="MAPEG"
                     /note="MAPEG family; pfam01124"
                     /db_xref="CDD:426065"
     Site            42
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q91VS7; propagated from
                     UniProtKB/Swiss-Prot (P10620.1)"
     Site            55
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q91VS7; propagated from
                     UniProtKB/Swiss-Prot (P10620.1)"
     Site            60
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q91VS7; propagated from
                     UniProtKB/Swiss-Prot (P10620.1)"
     Site            63..96
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P10620.1)"
     Site            100..123
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P10620.1)"
     Site            129..148
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P10620.1)"
     CDS             1..155
                     /gene="MGST1"
                     /gene_synonym="GST12; MGST; MGST-I; PMAN"
                     /coded_by="NM_001414359.1:93..560"
                     /note="isoform a is encoded by transcript variant 14"
                     /db_xref="GeneID:4257"
                     /db_xref="HGNC:HGNC:7061"
                     /db_xref="MIM:138330"
ORIGIN      
        1 mvdltqvmdd evfmafasya tiilskmmlm statafyrlt rkvfanpedc vafgkgenak
       61 kylrtddrve rvrrahlndl eniipflgig llyslsgpdp stailhfrlf vgariyhtia
      121 yltplpqpnr alsffvgygv tlsmayrllk sklyl
//
LOCUS       NP_001353336              64 aa            linear   PRI 22-JAN-2023
DEFINITION  protein S100-A2 isoform 3 [Homo sapiens].
ACCESSION   NP_001353336
VERSION     NP_001353336.1
DBSOURCE    REFSEQ: accession NM_001366407.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 64)
  AUTHORS   Zhang J, Wang Z, Liang Z, Jin C, Shi Y, Fan M, Hu X and Wan Y.
  TITLE     NFIC1 inhibits the migration and invasion of MDA-MB-231 cells
            through S100A2-mediated inactivation of MEK/ERK pathway
  JOURNAL   Arch Biochem Biophys 734, 109497 (2023)
   PUBMED   36574914
  REMARK    GeneRIF: NFIC1 inhibits the migration and invasion of MDA-MB-231
            cells through S100A2-mediated inactivation of MEK/ERK pathway.
REFERENCE   2  (residues 1 to 64)
  AUTHORS   Yan J, Huang YJ, Huang QY, Liu PX and Wang CS.
  TITLE     Transcriptional activation of S100A2 expression by HIF-1alpha via
            binding to the hypomethylated hypoxia response elements in HCC
            cells
  JOURNAL   Mol Carcinog 61 (5), 494-507 (2022)
   PUBMED   35107180
  REMARK    GeneRIF: Transcriptional activation of S100A2 expression by
            HIF-1alpha via binding to the hypomethylated hypoxia response
            elements in HCC cells.
REFERENCE   3  (residues 1 to 64)
  AUTHORS   Zhang Q, Xia T, Qi C, Du J and Ye C.
  TITLE     High expression of S100A2 predicts poor prognosis in patients with
            endometrial carcinoma
  JOURNAL   BMC Cancer 22 (1), 77 (2022)
   PUBMED   35042454
  REMARK    GeneRIF: High expression of S100A2 predicts poor prognosis in
            patients with endometrial carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 64)
  AUTHORS   Wang T, Wang N, Zhang L, Liu Y and Thakur A.
  TITLE     S100A2: A potential biomarker to differentiate malignant from
            tuberculous pleural effusion
  JOURNAL   Indian J Cancer 58 (2), 241-247 (2021)
   PUBMED   33402562
  REMARK    GeneRIF: S100A2: A potential biomarker to differentiate malignant
            from tuberculous pleural effusion.
REFERENCE   5  (residues 1 to 64)
  AUTHORS   Yoshioka M, Sawada Y, Saito-Sasaki N, Yoshioka H, Hama K, Omoto D,
            Ohmori S, Okada E and Nakamura M.
  TITLE     High S100A2 expression in keratinocytes in patients with drug
            eruption
  JOURNAL   Sci Rep 11 (1), 5493 (2021)
   PUBMED   33750880
  REMARK    GeneRIF: High S100A2 expression in keratinocytes in patients with
            drug eruption.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 64)
  AUTHORS   Schafer BW and Heizmann CW.
  TITLE     The S100 family of EF-hand calcium-binding proteins: functions and
            pathology
  JOURNAL   Trends Biochem Sci 21 (4), 134-140 (1996)
   PUBMED   8701470
  REMARK    Review article
REFERENCE   7  (residues 1 to 64)
  AUTHORS   Schafer BW, Wicki R, Engelkamp D, Mattei MG and Heizmann CW.
  TITLE     Isolation of a YAC clone covering a cluster of nine S100 genes on
            human chromosome 1q21: rationale for a new nomenclature of the S100
            calcium-binding protein family
  JOURNAL   Genomics 25 (3), 638-643 (1995)
   PUBMED   7759097
REFERENCE   8  (residues 1 to 64)
  AUTHORS   Engelkamp D, Schafer BW, Mattei MG, Erne P and Heizmann CW.
  TITLE     Six S100 genes are clustered on human chromosome 1q21:
            identification of two genes coding for the two previously
            unreported calcium-binding proteins S100D and S100E
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6547-6551 (1993)
   PUBMED   8341667
REFERENCE   9  (residues 1 to 64)
  AUTHORS   Rasmussen HH, van Damme J, Puype M, Gesser B, Celis JE and
            Vandekerckhove J.
  TITLE     Microsequences of 145 proteins recorded in the two-dimensional gel
            protein database of normal human epidermal keratinocytes
  JOURNAL   Electrophoresis 13 (12), 960-969 (1992)
   PUBMED   1286667
REFERENCE   10 (residues 1 to 64)
  AUTHORS   Lee SW, Tomasetto C, Swisshelm K, Keyomarsi K and Sager R.
  TITLE     Down-regulation of a member of the S100 gene family in mammary
            carcinoma cells and reexpression by azadeoxycytidine treatment
  JOURNAL   Proc Natl Acad Sci U S A 89 (6), 2504-2508 (1992)
   PUBMED   1372446
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX470102.12.
            
            Summary: The protein encoded by this gene is a member of the S100
            family of proteins containing 2 EF-hand calcium-binding motifs.
            S100 proteins are localized in the cytoplasm and/or nucleus of a
            wide range of cells, and involved in the regulation of a number of
            cellular processes such as cell cycle progression and
            differentiation. S100 genes include at least 13 members which are
            located as a cluster on chromosome 1q21. This protein may have a
            tumor suppressor function. Chromosomal rearrangements and altered
            expression of this gene have been implicated in breast cancer.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CD365047.1, CD364373.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..64
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..64
                     /product="protein S100-A2 isoform 3"
                     /note="protein S100-A2"
                     /calculated_mol_wt=7193
     Region          <1..57
                     /region_name="S-100"
                     /note="S-100 domain, which represents the largest family
                     within the superfamily of proteins carrying the Ca-binding
                     EF-hand motif. Note that this S-100 hierarchy contains
                     only S-100 EF-hand domains, other EF-hands have been
                     modeled separately. S100 proteins are...; cd00213"
                     /db_xref="CDD:238131"
     CDS             1..64
                     /gene="S100A2"
                     /gene_synonym="CAN19; S100L"
                     /coded_by="NM_001366407.1:418..612"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS91058.1"
                     /db_xref="GeneID:6273"
                     /db_xref="HGNC:HGNC:10492"
                     /db_xref="MIM:176993"
ORIGIN      
        1 mkellhkelp sfvgekvdee glkklmgsld ensdqqvdfq eyavflalit vmcndffqgc
       61 pdrp
//
LOCUS       NP_001017423             793 aa            linear   PRI 16-MAR-2023
DEFINITION  delta-1-pyrroline-5-carboxylate synthase isoform 2 [Homo sapiens].
ACCESSION   NP_001017423
VERSION     NP_001017423.1
DBSOURCE    REFSEQ: accession NM_001017423.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 793)
  AUTHORS   Koh K, Takaki R, Ishiura H, Tsuji S and Takiyama Y.
  TITLE     SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A
            family with PMP22 duplication: case report
  JOURNAL   BMC Neurol 21 (1), 64 (2021)
   PUBMED   33573605
  REMARK    GeneRIF: SPG9A with the new occurrence of an ALDH18A1 mutation in a
            CMT1A family with PMP22 duplication: case report.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 793)
  AUTHORS   Marco-Marin C, Escamilla-Honrubia JM, Llacer JL, Seri M, Panza E
            and Rubio V.
  TITLE     Delta1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent
            multifaceted urea cycle-related disorder
  JOURNAL   J Inherit Metab Dis 43 (4), 657-670 (2020)
   PUBMED   32017139
  REMARK    GeneRIF: Delta(1) -Pyrroline-5-carboxylate synthetase deficiency:
            An emergent multifaceted urea cycle-related disorder.
            Review article
REFERENCE   3  (residues 1 to 793)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 793)
  AUTHORS   Guo YF, Duan JJ, Wang J, Li L, Wang D, Liu XZ, Yang J, Zhang HR, Lv
            J, Yang YJ, Yang ZY, Cai J, Liao XM, Tang T, Huang TT, Wu F, Yang
            XY, Wen Q, Bian XW and Yu SC.
  TITLE     Inhibition of the ALDH18A1-MYCN positive feedback loop attenuates
            MYCN-amplified neuroblastoma growth
  JOURNAL   Sci Transl Med 12 (531) (2020)
   PUBMED   32075946
  REMARK    GeneRIF: Inhibition of the ALDH18A1-MYCN positive feedback loop
            attenuates MYCN-amplified neuroblastoma growth.
REFERENCE   5  (residues 1 to 793)
  AUTHORS   Koh K, Ishiura H, Beppu M, Shimazaki H, Ichinose Y, Mitsui J,
            Kuwabara S, Tsuji S and Takiyama Y.
  CONSRTM   Japan Spastic Paraplegia Research Consortium
  TITLE     Novel mutations in the ALDH18A1 gene in complicated hereditary
            spastic paraplegia with cerebellar ataxia and cognitive impairment
  JOURNAL   J Hum Genet 63 (9), 1009-1013 (2018)
   PUBMED   29915212
  REMARK    GeneRIF: Novel mutations in the ALDH18A1 gene in complicated
            hereditary spastic paraplegia with cerebellar ataxia and cognitive
            impairment.
REFERENCE   6  (residues 1 to 793)
  AUTHORS   Hu CA, Lin WW, Obie C and Valle D.
  TITLE     Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate
            synthase. Alternative splice donor utilization generates isoforms
            with different sensitivity to ornithine inhibition
  JOURNAL   J Biol Chem 274 (10), 6754-6762 (1999)
   PUBMED   10037775
REFERENCE   7  (residues 1 to 793)
  AUTHORS   Seri M, Cusano R, Forabosco P, Cinti R, Caroli F, Picco P, Bini R,
            Morra VB, De Michele G, Lerone M, Silengo M, Pela I, Borrone C,
            Romeo G and Devoto M.
  TITLE     Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a
            new syndrome showing bilateral cataracts, gastroesophageal reflux,
            and spastic paraparesis with amyotrophy
  JOURNAL   Am J Hum Genet 64 (2), 586-593 (1999)
   PUBMED   9973297
REFERENCE   8  (residues 1 to 793)
  AUTHORS   Liu G, Maunoury C, Kamoun P and Aral B.
  TITLE     Assignment of the human gene encoding the delta
            1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ
            hybridization
  JOURNAL   Genomics 37 (1), 145-146 (1996)
   PUBMED   8921385
REFERENCE   9  (residues 1 to 793)
  AUTHORS   Aral B, Schlenzig JS, Liu G and Kamoun P.
  TITLE     Database cloning human delta 1-pyrroline-5-carboxylate synthetase
            (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in
            proline biosynthesis
  JOURNAL   C R Acad Sci III 319 (3), 171-178 (1996)
   PUBMED   8761662
REFERENCE   10 (residues 1 to 793)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD642171.1, U68758.1, X94453.1,
            BU170321.1 and AW467503.1.
            
            Summary: This gene is a member of the aldehyde dehydrogenase family
            and encodes a bifunctional ATP- and NADPH-dependent mitochondrial
            enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate
            reductase activities. The encoded protein catalyzes the reduction
            of glutamate to delta1-pyrroline-5-carboxylate, a critical step in
            the de novo biosynthesis of proline, ornithine and arginine.
            Mutations in this gene lead to hyperammonemia, hypoornithinemia,
            hypocitrullinemia, hypoargininemia and hypoprolinemia and may be
            associated with neurodegeneration, cataracts and connective tissue
            diseases. Alternatively spliced transcript variants, encoding
            different isoforms, have been described for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2), also known as P5Cs, uses an
            alternate in-frame splice site, compared to variant 1, resulting in
            a shorter isoform (2). Variants 2 and 6 both encode the same
            isoform (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.56603.1,
                                           SRR1803612.33021.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..793
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.1"
     Protein         1..793
                     /product="delta-1-pyrroline-5-carboxylate synthase isoform
                     2"
                     /EC_number="1.2.1.41"
                     /EC_number="2.7.2.11"
                     /note="pyrroline-5-carboxylate synthetase (glutamate
                     gamma-semialdehyde synthetase);
                     delta1-pyrroline-5-carboxlate synthetase;
                     delta-1-pyrroline-5-carboxylate synthetase;
                     delta-1-pyrroline-5-carboxylate synthase; aldehyde
                     dehydrogenase family 18 member A1; spastic paraplegia 9
                     (autosomal dominant); Spastic paraplegia-9 (spastic
                     paraparesis with amyotrophy, cataracts and
                     gastroesophageal reflux)"
                     /calculated_mol_wt=86958
     Region          64..792
                     /region_name="P5CS"
                     /note="delta l-pyrroline-5-carboxylate synthetase;
                     TIGR01092"
                     /db_xref="CDD:130164"
     Region          360..793
                     /region_name="Gamma-glutamyl phosphate reductase"
                     /note="propagated from UniProtKB/Swiss-Prot (P54886.2)"
     CDS             1..793
                     /gene="ALDH18A1"
                     /gene_synonym="ADCL3; ARCL3A; GSAS; P5CS; PYCS; SPG9;
                     SPG9A; SPG9B"
                     /coded_by="NM_001017423.2:144..2525"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS31257.1"
                     /db_xref="GeneID:5832"
                     /db_xref="HGNC:HGNC:9722"
                     /db_xref="MIM:138250"
ORIGIN      
        1 mlsqvyrcgf qpfnqhllpw vkcttvfrsh ciqpsvirhv rswsnipfit vplsrthgks
       61 fahrselkha krivvklgsa vvtrgdecgl algrlasive qvsvlqnqgr emmlvtsgav
      121 afgkqrlrhe illsqsvrqa lhsgqnqlke maipvleara caaagqsglm alyeamftqy
      181 sicaaqilvt nldfhdeqkr rnlngtlhel lrmnivpivn tndavvppae pnsdlqgvis
      241 vkdndslaar lavemktdll ivlsdveglf dsppgsddak lidifypgdq qsvtfgtksr
      301 vgmggmeakv kaalwalqgg tsvviangth pkvsghvitd ivegkkvgtf fsevkpagpt
      361 veqqgemars ggrmlatlep eqraeiihhl adlltdqrde illankkdle eaegrlaapl
      421 lkrlslstsk lnslaiglrq iaassqdsvg rvlrrtriak nleleqvtvp igvllvifes
      481 rpdclpqvaa laiasgngll lkggkeaahs nrilhlltqe alsihgvkea vqlvntreev
      541 edlcrldkmi dliiprgssq lvrdiqkaak gipvmghseg ichmyvdsea svdkvtrlvr
      601 dskceypaac naletllihr dllrtplfdq iidmlrveqv kihagpkfas yltfspsevk
      661 slrteygdle lcievvdnvq daidhihkyg sshtdvivte dentaefflq hvdsacvfwn
      721 astrfsdgyr fglgaevgis tsrihargpv glegllttkw llrgkdhvvs dfsehgslky
      781 lhenlpipqr ntn
//
LOCUS       NP_001356987             576 aa            linear   PRI 19-MAR-2023
DEFINITION  FRAS1-related extracellular matrix protein 1 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001356987
VERSION     NP_001356987.1
DBSOURCE    REFSEQ: accession NM_001370058.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 576)
  AUTHORS   Kashem MA, Lischynski J, Stojak B, Li L, Yuan XY, Liang B, Kimani
            J, Plummer FA and Luo M.
  TITLE     High level of plasma TILRR protein is associated with faster HIV
            seroconversion
  JOURNAL   EBioMedicine 78, 103955 (2022)
   PUBMED   35339895
  REMARK    GeneRIF: High level of plasma TILRR protein is associated with
            faster HIV seroconversion.
REFERENCE   2  (residues 1 to 576)
  AUTHORS   Dawson AJ, Hovanes K, Liu J, Marles S, Greenberg C, Mhanni A,
            Chudley A, Frosk P, Sahoo T, Schanze D and Zenker M.
  TITLE     Heterozygous intragenic deletions of FREM1 are not associated with
            trigonocephaly
  JOURNAL   Clin Dysmorphol 30 (2), 83-88 (2021)
   PUBMED   33038106
  REMARK    GeneRIF: Heterozygous intragenic deletions of FREM1 are not
            associated with trigonocephaly.
REFERENCE   3  (residues 1 to 576)
  AUTHORS   Li HN, Li XR, Lv ZT, Cai MM, Wang G and Yang ZF.
  TITLE     Elevated expression of FREM1 in breast cancer indicates favorable
            prognosis and high-level immune infiltration status
  JOURNAL   Cancer Med 9 (24), 9554-9570 (2020)
   PUBMED   33058542
  REMARK    GeneRIF: Elevated expression of FREM1 in breast cancer indicates
            favorable prognosis and high-level immune infiltration status.
REFERENCE   4  (residues 1 to 576)
  AUTHORS   Brischoux-Boucher E, Dahlen E, Gronier C, Nobili F, Marcoux E,
            Alkuraya FS and Van Maldergem L.
  TITLE     Bifid nose as the sole manifestation of BNAR syndrome, a
            FREM1-related condition
  JOURNAL   Clin Genet 98 (5), 515-516 (2020)
   PUBMED   32926405
  REMARK    GeneRIF: Bifid nose as the sole manifestation of BNAR syndrome, a
            FREM1-related condition.
REFERENCE   5  (residues 1 to 576)
  AUTHORS   Kashem MA, Li H, Toledo NP, Omange RW, Liang B, Liu LR, Li L, Yang
            X, Yuan XY, Kindrachuk J, Plummer FA and Luo M.
  TITLE     Toll-like Interleukin 1 Receptor Regulator Is an Important
            Modulator of Inflammation Responsive Genes
  JOURNAL   Front Immunol 10, 272 (2019)
   PUBMED   30873160
  REMARK    GeneRIF: Toll-like Interleukin 1 Receptor Regulator Is an Important
            Modulator of Inflammation Responsive Genes.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 576)
  AUTHORS   Zhang X, Shephard F, Kim HB, Palmer IR, McHarg S, Fowler GJ,
            O'Neill LA, Kiss-Toth E and Qwarnstrom EE.
  TITLE     TILRR, a novel IL-1RI co-receptor, potentiates MyD88 recruitment to
            control Ras-dependent amplification of NF-kappaB
  JOURNAL   J Biol Chem 285 (10), 7222-7232 (2010)
   PUBMED   19940113
  REMARK    GeneRIF: TILRR, an isoform encoded by an alternatively spliced
            FREM1 mRNA, is an IL-1RI co-receptor that associates with the
            signaling receptor complex to enhance recruitment of MyD88 and
            control Ras-dependent amplification of NF-kappaB and inflammatory
            responses.
            Erratum:[J Biol Chem. 2010 Jun 4;285(23):18122]
REFERENCE   7  (residues 1 to 576)
  AUTHORS   Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B,
            Bavi P, Al-Gazali LI and Alkuraya FS.
  TITLE     FREM1 mutations cause bifid nose, renal agenesis, and anorectal
            malformations syndrome
  JOURNAL   Am J Hum Genet 85 (3), 414-418 (2009)
   PUBMED   19732862
  REMARK    GeneRIF: The phenotypic variability reported for different Frem1
            mouse mutants suggests that the apparently distinct phenotype of
            bifid nose and anorectal and renal anomalies syndrome in humans may
            represent a previously unrecognized variant of Fraser syndrome.
            Erratum:[Am J Hum Genet. 2009 Nov;85(5):756]
REFERENCE   8  (residues 1 to 576)
  AUTHORS   Kiyozumi D, Osada A, Sugimoto N, Weber CN, Ono Y, Imai T, Okada A
            and Sekiguchi K.
  TITLE     Identification of a novel cell-adhesive protein spatiotemporally
            expressed in the basement membrane of mouse developing hair
            follicle
  JOURNAL   Exp Cell Res 306 (1), 9-23 (2005)
   PUBMED   15878328
REFERENCE   9  (residues 1 to 576)
  AUTHORS   Smyth I, Du X, Taylor MS, Justice MJ, Beutler B and Jackson IJ.
  TITLE     The extracellular matrix gene Frem1 is essential for the normal
            adhesion of the embryonic epidermis
  JOURNAL   Proc Natl Acad Sci U S A 101 (37), 13560-13565 (2004)
   PUBMED   15345741
REFERENCE   10 (residues 1 to 576)
  AUTHORS   Li,C. and Slavotinek,A.
  TITLE     FREM1 Autosomal Recessive Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301721
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL512643.9 and AL390732.10.
            
            Summary: This gene encodes a basement membrane protein that may
            play a role in craniofacial and renal development. Mutations in
            this gene have been associated with bifid nose with or without
            anorectal and renal anomalies. Alternatively spliced transcript
            variants encoding different isoforms have been described. PubMed ID
            19940113 describes one such variant that initiates transcription
            within a distinct, internal exon; the resulting shorter isoform
            (named Toll-like/interleukin-1 receptor regulator, TILRR) is
            suggested to be a co-receptor of the interleukin 1 receptor family
            and may regulate receptor function and Toll-like
            receptor/interleukin 1 receptor signal transduction, contributing
            to the control of inflammatory response activation. [provided by
            RefSeq, Apr 2011].
            
            Sequence Note:.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968189
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..576
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p22.3"
     Protein         1..576
                     /product="FRAS1-related extracellular matrix protein 1
                     isoform 3"
                     /note="FRAS1-related extracellular matrix protein 1;
                     extracellular matrix protein QBRICK"
                     /calculated_mol_wt=64411
     Region          25..134
                     /region_name="Cadherin_3"
                     /note="Cadherin-like; pfam16184"
                     /db_xref="CDD:435196"
     Region          149..261
                     /region_name="Cadherin_3"
                     /note="Cadherin-like; pfam16184"
                     /db_xref="CDD:435196"
     Region          282..>340
                     /region_name="Calx-beta"
                     /note="Calx-beta domain; cl02522"
                     /db_xref="CDD:413355"
     CDS             1..576
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /coded_by="NM_001370058.2:988..2718"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:158326"
                     /db_xref="HGNC:HGNC:23399"
                     /db_xref="MIM:608944"
ORIGIN      
        1 mvtqesmlka alplftrfii snglrtehgv feitletvdr alpvvtrnkg lrlaqgavgl
       61 lspdllqltd pdtpaenltf llvqlpqhgq lylwgtgllq hnftqqdvds knvayrhsgg
      121 dsqtdcftfm atdgtnqgfi vngrvweepv lftiqvdqld ktapritllh spsqvgllkn
      181 gcygiyitsr vlkasdpdte ddqiifkilq gpkhghlent ttgefihekf sqkdlnskti
      241 lyiinpslev nsdtvefqim dptgnsatpq ilelkwshie wsqteyevce nvgllpleii
      301 rrgysmdsaf vgikvnqvsa avgkdftvip skliqfdpgq chpsyssnqs khstwekgiw
      361 hllppgssss ttsgsfhler rplpssmqla virgdtlrgf dstdlsqrkl rtrgngktvr
      421 pssvyrngtd iiynyhgivs lkleddsfpt hkrkakvsii sqpqktikva elpqadkves
      481 ttdshfprqd qlpsfpknct lelkglfhfe egiqklyqcn giawkawspq tkipgqpcnc
      541 ilqaahaval ghwwekvlld rferpsacwp lgvdrw
//
LOCUS       NP_001269836             529 aa            linear   PRI 19-MAR-2023
DEFINITION  T-complex protein 1 subunit theta isoform 2 [Homo sapiens].
ACCESSION   NP_001269836 XP_005260972
VERSION     NP_001269836.1
DBSOURCE    REFSEQ: accession NM_001282907.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 529)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 529)
  AUTHORS   Gestaut D, Roh SH, Ma B, Pintilie G, Joachimiak LA, Leitner A,
            Walzthoeni T, Aebersold R, Chiu W and Frydman J.
  TITLE     The Chaperonin TRiC/CCT Associates with Prefoldin through a
            Conserved Electrostatic Interface Essential for Cellular
            Proteostasis
  JOURNAL   Cell 177 (3), 751-765 (2019)
   PUBMED   30955883
REFERENCE   3  (residues 1 to 529)
  AUTHORS   Fasci D, van Ingen H, Scheltema RA and Heck AJR.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   4  (residues 1 to 529)
  AUTHORS   Yang X, Ren H, Shao Y, Sun Y, Zhang L, Li H, Zhang X, Yang X, Yu W
            and Fu J.
  TITLE     Chaperonin-containing T-complex protein 1 subunit 8 promotes cell
            migration and invasion in human esophageal squamous cell carcinoma
            by regulating alpha-actin and beta-tubulin expression
  JOURNAL   Int J Oncol 52 (6), 2021-2030 (2018)
   PUBMED   29620162
  REMARK    GeneRIF: Study demonstrated that CCT8 expression is widely
            upregulated in esophageal squamous cell carcinoma (ESCC), and
            enhanced the migration and invasion of ESCC cells, indicating that
            ectopic CCT8 expression contributes to the highly aggressive nature
            of ESCC probably by increasing alpha-actin and beta-tubulin
            expression.
REFERENCE   5  (residues 1 to 529)
  AUTHORS   Noormohammadi A, Khodakarami A, Gutierrez-Garcia R, Lee HJ, Koyuncu
            S, Konig T, Schindler C, Saez I, Fatima A, Dieterich C and Vilchez
            D.
  TITLE     Somatic increase of CCT8 mimics proteostasis of human pluripotent
            stem cells and extends C. elegans lifespan
  JOURNAL   Nat Commun 7, 13649 (2016)
   PUBMED   27892468
  REMARK    GeneRIF: Ectopic expression of CCT8 also ameliorates the
            age-associated demise of proteostasis and corrects proteostatic
            deficiencies in worm models of Huntington's disease.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 529)
  AUTHORS   Yokota S, Yanagi H, Yura T and Kubota H.
  TITLE     Cytosolic chaperonin-containing t-complex polypeptide 1 changes the
            content of a particular subunit species concomitant with substrate
            binding and folding activities during the cell cycle
  JOURNAL   Eur J Biochem 268 (17), 4664-4673 (2001)
   PUBMED   11532003
REFERENCE   7  (residues 1 to 529)
  AUTHORS   Hynes GM and Willison KR.
  TITLE     Individual subunits of the eukaryotic cytosolic chaperonin mediate
            interactions with binding sites located on subdomains of beta-actin
  JOURNAL   J Biol Chem 275 (25), 18985-18994 (2000)
   PUBMED   10748209
REFERENCE   8  (residues 1 to 529)
  AUTHORS   Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH,
            Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT and Old
            LJ.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
REFERENCE   9  (residues 1 to 529)
  AUTHORS   Yamazaki M, Ono A, Watanabe K, Sasaki K, Tashiro H and Nomura T.
  TITLE     Nucleotide sequence surrounding the locus marker D21S246 on human
            chromosome 21
  JOURNAL   DNA Res 2 (4), 187-189 (1995)
   PUBMED   8590283
REFERENCE   10 (residues 1 to 529)
  AUTHORS   Kubota H, Hynes G and Willison K.
  TITLE     The eighth Cct gene, Cctq, encoding the theta subunit of the
            cytosolic chaperonin containing TCP-1
  JOURNAL   Gene 154 (2), 231-236 (1995)
   PUBMED   7890169
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP248736.1, DC298601.1, AK293705.1, BC072001.1 and DB301557.1.
            On Nov 5, 2013 this sequence version replaced XP_005260972.1.
            
            Summary: This gene encodes the theta subunit of the CCT chaperonin,
            which is abundant in the eukaryotic cytosol and may be involved in
            the transport and assembly of newly synthesized proteins.
            Alternative splicing results in multiple transcript variants of
            this gene. A pseudogene related to this gene is located on
            chromosome 1. [provided by RefSeq, Sep 2013].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            and contains an alternate exon in the 5' coding region, and
            initiates translation at an alternate start codon, compared to
            variant 1. It encodes isoform 2 which has a shorter and distinct
            N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK293705.1, SRR14038196.1168563.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..529
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q21.3"
     Protein         1..529
                     /product="T-complex protein 1 subunit theta isoform 2"
                     /note="T-complex protein 1 subunit theta; CCT-theta;
                     TCP-1-theta; renal carcinoma antigen NY-REN-15; chaperonin
                     containing TCP1, subunit 8 (theta); chaperonin containing
                     T-complex polypeptide 1 subunit 8"
                     /calculated_mol_wt=57514
     Region          2..520
                     /region_name="chap_CCT_theta"
                     /note="T-complex protein 1, theta subunit; TIGR02346"
                     /db_xref="CDD:274087"
     Site            order(5,33..36,38,56,58,62,66,69,363,501..507)
                     /site_type="other"
                     /note="ring oligomerisation interface [polypeptide
                     binding]"
                     /db_xref="CDD:239457"
     Site            order(28..30,80,84,147,375,393,433,478,480)
                     /site_type="other"
                     /note="ATP/Mg binding site [chemical binding]"
                     /db_xref="CDD:239457"
     Site            order(413,431,440,442..443,446)
                     /site_type="active"
                     /note="stacking interactions [active]"
                     /db_xref="CDD:239457"
     CDS             1..529
                     /gene="CCT8"
                     /gene_synonym="C21orf112; Cctq; D21S246; PRED71"
                     /coded_by="NM_001282907.2:424..2013"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS68181.1"
                     /db_xref="GeneID:10694"
                     /db_xref="HGNC:HGNC:1623"
                     /db_xref="MIM:617786"
ORIGIN      
        1 mhfsgleeav yrniqackel aqttrtaygp ngmnkmvinh leklfvtnda atilrelevq
       61 hpaakmivma shmqeqevgd gtnfvlvfag allelaeell riglsvsevi egyeiacrka
      121 heilpnlvcc saknlrdide vssllrtsim skqygnevfl akliaqacvs ifpdsghfnv
      181 dnirvckilg sgissssvlh gmvfkketeg dvtsvkdaki avyscpfdgm itetkgtvli
      241 ktaeelmnfs kgeenlmdaq vkaiadtgan vvvtggkvad malhyankyn imlvrlnskw
      301 dlrrlcktvg atalprltpp vleemghcds vylsevgdtq vvvfkheked gaistivlrg
      361 stdnlmddie ravddgvntf kvltrdkrlv pgggateiel akqitsyget cpgleqyaik
      421 kfaeafeaip ralaensgvk anevisklya vhqegnknvg ldieaevpav kdmleagild
      481 tylgkywaik latnaavtvl rvdqiimakp aggpkppsgk kdwdddqnd
//
LOCUS       XP_047272520            1132 aa            linear   PRI 20-MAR-2023
DEFINITION  polyamine-transporting ATPase 13A2 isoform X32 [Homo sapiens].
ACCESSION   XP_047272520
VERSION     XP_047272520.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416564.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1132
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1132
                     /product="polyamine-transporting ATPase 13A2 isoform X32"
                     /calculated_mol_wt=123110
     Region          39..1008
                     /region_name="P-ATPase-V"
                     /note="P-type ATPase of unknown pump specificity (type V);
                     TIGR01657"
                     /db_xref="CDD:273738"
     CDS             1..1132
                     /gene="ATP13A2"
                     /gene_synonym="CLN12; HSA9947; KRPPD; PARK9; SPG78"
                     /coded_by="XM_047416564.1:191..3589"
                     /db_xref="GeneID:23400"
                     /db_xref="HGNC:HGNC:30213"
                     /db_xref="MIM:610513"
ORIGIN      
        1 msadssplvg stptgygtlt igtsidplss svssvrlsgy cgspwrvigy hvvvwmmagi
       61 plllfrwkpl wgvrlrlrpc nlahaetlvi eirdkedssw qlftvqvqte aigegsleps
      121 pqsqaedgrs qaavgavpeg awkdtaqlhk seeavsvgqr vlryylfqgq ryiwietqqa
      181 fyqvslldhg rscddvhrsr hglslqdqmv rkaiygpnvi sipvksypql lvdealnpyy
      241 gfqafsialw ladhyywyal ciflissisi clslyktrkq sqtlrdmvkl smrvcvcrpg
      301 geeewvdsse lvpgdclvlp qegglmpcda alvagecmvn essltgesip vlktalpegl
      361 gpycaethrr htlfcgtlil qarayvgphv lavvtrtgfc takgglvssi lhprpinfkf
      421 ykhsmkfvaa lsvlallgti ysifilyrnr vplneivira ldlvtvvvpp alpaamtvct
      481 lyaqsrlrrq gifcihplri nlggklqlvc fdkvleeepa adsafgtqvl avmrpplwep
      541 qlqameeppv pvsvlhrfpf ssalqrmsvv vawpgatqpe ayvkgspelv aglcnpetvp
      601 tdfaqmlqsy taagyrvval askplptvps leaaqqltrd tvegdlsllg llvmrnllkp
      661 qttpviqalr rtriravmvt gdnlqtavtv argcgmvapq ehliivhath pergqpasle
      721 flpmesptav ngvkdpdqaa sytvepdprs rhlalsgptf giivkhfpkl lpkvlvqgtv
      781 farmapeqkt elvcelqklq ycvgmcgdga ndcgalkaad vgislsqaea svvspftssm
      841 asiecvpmvi regrcsldts fsvfkymaly sltqfisvli lytintnlgd lqflaidlvi
      901 tttvavlmsr tgpalvlgrv rppgallsvp vlsslllqmv lvtgvqlggy fltlaqpwfv
      961 plnrtvaapd nlpnyentvv fslssfqyli laaavskgap frrplytner arpvpprlpa
     1021 pppaqaglqe alqaagtrag raalaaaarr ppevvqahgh prhwnslpls hqldpspatp
     1081 ppppptslrl atvytppprp pppwgsvdyc plpwtiprrg gspqlpsvll sv
//
LOCUS       XP_005270807             333 aa            linear   PRI 20-MAR-2023
DEFINITION  gap junction alpha-4 protein isoform X1 [Homo sapiens].
ACCESSION   XP_005270807
VERSION     XP_005270807.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005270750.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..333
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..333
                     /product="gap junction alpha-4 protein isoform X1"
                     /calculated_mol_wt=37283
     Region          3..220
                     /region_name="Connexin"
                     /note="pfam00029"
                     /db_xref="CDD:425429"
     CDS             1..333
                     /gene="GJA4"
                     /gene_synonym="CX37"
                     /coded_by="XM_005270750.3:183..1184"
                     /db_xref="GeneID:2701"
                     /db_xref="HGNC:HGNC:4278"
                     /db_xref="MIM:121012"
ORIGIN      
        1 mgdwgflekl ldqvqehstv vgkiwltvlf ifrililgla gesvwgdeqs dfecntaqpg
       61 ctnvcydqaf pishirywvl qflfvstptl vylghviyls rreerlrqke gelralpakd
      121 pqveralaav erqmakisva edgrlrirga lmgtyvasvl cksvleagfl ygqwrlygwt
      181 mepvfvcqra pcpylvdcfv srptektifi ifmlvvglis lvlnllelvh llcrclsrgm
      241 rarqgqdapp tqgtssdpyt dqvffylpvg qgpssppcpt ynglssseqn wanltteerl
      301 assrpplfld pppqngqkpp srpsssaskk qyv
//
LOCUS       XP_047277187             296 aa            linear   PRI 20-MAR-2023
DEFINITION  neutrophil cytosol factor 2 isoform X3 [Homo sapiens].
ACCESSION   XP_047277187
VERSION     XP_047277187.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421231.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..296
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..296
                     /product="neutrophil cytosol factor 2 isoform X3"
                     /calculated_mol_wt=33468
     Region          6..32
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(7,10..11,14..15,17,38,41..42,45..46,48..49,72,
                     75..76,79..80,83)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          36..66
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          42..98
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     Region          71..>98
                     /region_name="TPR_1"
                     /note="Tetratricopeptide repeat; pfam00515"
                     /db_xref="CDD:425728"
     Region          71..98
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..296
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /coded_by="XM_047421231.1:131..1021"
                     /db_xref="GeneID:4688"
                     /db_xref="HGNC:HGNC:7661"
                     /db_xref="MIM:608515"
ORIGIN      
        1 mslveaislw negvlaadkk dwkgaldafs avqdphsric fnigcmytil knmteaekaf
       61 trsinrdkhl avayfqrgml yyqtekydla ikdlkealiq lrgnqlidyk ilglqfklfa
      121 cevlyniafm yakkeewkka eeqlalatsm kseprhskid kamecvwkqk lyepvvipvg
      181 klfrpnerqv aqlakkdylg katvvasvvd qdsfsgfapl qpqaaepppr pktpeifrrg
      241 lfpattlnql scgstlsssp rrkalrspts qlllvpkple dpschqarnk kkslrk
//
LOCUS       XP_016856997             381 aa            linear   PRI 20-MAR-2023
DEFINITION  POU domain, class 2, transcription factor 1 isoform X5 [Homo
            sapiens].
ACCESSION   XP_016856997
VERSION     XP_016856997.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001508.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..381
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..381
                     /product="POU domain, class 2, transcription factor 1
                     isoform X5"
                     /calculated_mol_wt=40461
     Region          306..380
                     /region_name="POU"
                     /note="Found in Pit-Oct-Unc transcription factors;
                     smart00352"
                     /db_xref="CDD:197673"
     CDS             1..381
                     /gene="POU2F1"
                     /gene_synonym="oct-1B; OCT1; Oct1Z; OTF1"
                     /coded_by="XM_017001508.3:13..1158"
                     /db_xref="GeneID:5451"
                     /db_xref="HGNC:HGNC:9212"
                     /db_xref="MIM:164175"
ORIGIN      
        1 madggaasqd essaaaaaaa dwknsrmnnp setskpsmes gdgntgtqtn gldfqkqpvp
       61 vggaistaqa qaflghlhqv qlagtslqaa aqslnvqsks neesgdsqqp sqpsqqpsvq
      121 aaipqtqlml aggqitgltl tpaqqqlllq qaqaqaqlla aavqqhsasq qhsaagatis
      181 asaatpmtqi plsqpiqiaq dlqqlqqlqq qnlnlqqfvl vhpttnlqpa qfiisqtpqg
      241 qqgllqaqnl ltqlpqqsqa nllqsqpsit ltsqpatptr tiaatpiqtl pqsqstpkri
      301 dtpsleepsd leeleqfakt fkqrriklgf tqgdvglamg klygndfsqt tisrfealnl
      361 sfknmcklkp llekwlndae p
//
LOCUS       XP_047283124             883 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptotagmin-like protein 2 isoform X16 [Homo sapiens].
ACCESSION   XP_047283124
VERSION     XP_047283124.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427168.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..883
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..883
                     /product="synaptotagmin-like protein 2 isoform X16"
                     /calculated_mol_wt=99390
     Region          5..>51
                     /region_name="PHD_SF"
                     /note="PHD finger superfamily; cl22851"
                     /db_xref="CDD:451427"
     Region          578..705
                     /region_name="C2"
                     /note="C2 domain; cl14603"
                     /db_xref="CDD:449331"
     Region          718..874
                     /region_name="C2B_SLP_1-2-3-4"
                     /note="C2 domain second repeat present in
                     Synaptotagmin-like proteins 1-4; cd04020"
                     /db_xref="CDD:175987"
     CDS             1..883
                     /gene="SYTL2"
                     /gene_synonym="CHR11SYT; EXO4; PPP1R151; SGA72M; SLP2;
                     SLP2A"
                     /coded_by="XM_047427168.1:578..3229"
                     /db_xref="GeneID:54843"
                     /db_xref="HGNC:HGNC:15585"
                     /db_xref="MIM:612880"
ORIGIN      
        1 midlsfltee eqeaimkvlq rdaalkraee ervrhlpeki kddqqlknms gqwfyeakak
       61 rhrdkihgad iirasmrkkr pqiaelagvv eepeedaapa spsssvvnpa ssvidmsqen
      121 trkpnvspek rknpfnsskl peghssqqtk neqskngrtg lfqtskedel seskekstva
      181 dtsiqkleks kqtlpglsng sqikapipka rkmiykstdl nkddnqsfpr qrtdslkarg
      241 aprgilkrns sssstdsetl rynhnfepks kivspgltih erisekehsl ednsspnsle
      301 plkhvrfsav kdelpqspgl ihgrevgefs vlesdrlkng medagdteef qsdpkpsqyr
      361 kpslfhqsts spyvskseth qpmtsgsfpi nglhshsevl tarpqsmens ptinepkdks
      421 seltrlesvl prspadelsh cvepepsqvp ggssrdrqqg seeepspvlk tlersaarkm
      481 pskslediss dssnqakvdn qpeelvrsae ddekpdqkpv tnecvprist vptqpdnpfs
      541 hpdklkrmsk svpaflqdev sgsvmsvysg dfgnlevkgn iqfaieyves lkelhvfvaq
      601 ckdlaaadvk kqrsdpyvka yllpdkgkmg kkktlvvkkt lnpvyneilr ykiekqilkt
      661 qklnlsiwhr dtfkrnsflg eveldletwd wdnkqnkqlr wyplkrktap valeaenrge
      721 mklalqyvpe pvpgkklptt gevhiwvkec ldlpllrgsh lnsfvkctil pdtsrksrqk
      781 travgkttnp ifnhtmvydg frpedlmeac veltvwdhyk ltnqflgglr igfgtgksyg
      841 tevdwmdsts eevalwekmv nspntwieat lplrmlliak isk
//
LOCUS       XP_047284194            1003 aa            linear   PRI 20-MAR-2023
DEFINITION  methyl-CpG-binding domain protein 6 isoform X2 [Homo sapiens].
ACCESSION   XP_047284194
VERSION     XP_047284194.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428238.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1003
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1003
                     /product="methyl-CpG-binding domain protein 6 isoform X2"
                     /calculated_mol_wt=101070
     Region          16..84
                     /region_name="MBD"
                     /note="MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and
                     BAZ2A-like proteins constitute a family of proteins that
                     share the methyl-CpG-binding domain (MBD). The MBD
                     consists of about 70 residues and is defined as the
                     minimal region required for binding to...; cl00110"
                     /db_xref="CDD:444698"
     Site            order(28,30,31,33,42,45,49)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238069"
     Region          <129..563
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <688..>848
                     /region_name="PRK07994"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236138"
     CDS             1..1003
                     /gene="MBD6"
                     /coded_by="XM_047428238.1:174..3185"
                     /db_xref="GeneID:114785"
                     /db_xref="HGNC:HGNC:20445"
                     /db_xref="MIM:619458"
ORIGIN      
        1 mnggnessga draggpvats vpigwqrcvr egavlyisps gtelssleqt rsyllsdgtc
       61 kcglecplnv pkvfnfdpla pvtpggagvg paseedmtkl cnhrrkavam atlyrsmett
      121 cshsspgega spqmfhtvsp gppsarppcr vppttplngg pgslppepps vsqafptlag
      181 pgglfpprla dpvpsggsss prflprgnap spapppppai slnapsynwg aalrsslvps
      241 dlgsppapha sssppsdppl fhcsdaltpp plppsnnlpa hpgpasqppv ssatmhlplv
      301 lgplggaptv egpgappfla ssllsaaaka qhpplpppst lqgrrpraqa psashssslr
      361 psqrrprrpp tvfrllegrg pqtprrsrpr apapvpqpfs lpepsqpilp svlsllglpt
      421 pgpshsdgsf nllgsdahlp ppptlssgsp pqprhpiqps lpgttsgsls svpgapappa
      481 askapvvpsp vlqspseglg mgagpacplp plaggeafpf pspeqglals gagfpgmlga
      541 lplplslgqp ppspllnhsl fgvltggggq pppepllppp ggpgpplapg epegpsllva
      601 sllppppsdl lpppsappsn llasflplla lgptagdgeg saegaggpsg epfsglgdls
      661 pllfpplsap ptlialnsal laatldppsg tppqpcvlsa pqpgpptssv ttattdpgas
      721 slgkapsnsg rppqllspll gasllgdlss ltsspgalps llqppgplls gqlglqllpg
      781 ggappplsea ssplacllqs lqippeqpea pclppespas alepeparpp lsalapphgs
      841 pdppvpellt grgsgkrgrr gggglrging earpargrkp gsrrepgrla lkwgtrggfn
      901 gqmersprrt hhwqhngela eggaepkdpp ppgphsedlk vppgvvrksr rgrrrkynpt
      961 rnsnssrqdi tlepsptara avplpprarp grpaknkrrk lap
//
LOCUS       XP_011533090             648 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and LEM domain-containing protein 2 isoform X3 [Homo
            sapiens].
ACCESSION   XP_011533090
VERSION     XP_011533090.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534788.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..648
                     /product="ankyrin repeat and LEM domain-containing protein
                     2 isoform X3"
                     /calculated_mol_wt=72511
     Region          71..113
                     /region_name="LEM_ANKL2"
                     /note="LEM (Lap2/Emerin/Man1) domain found in ankyrin
                     repeat and LEM domain-containing protein 2 (ANKL2);
                     cd12944"
                     /db_xref="CDD:240591"
     Site            order(77..78,90..95,97..98,101..102,104..105)
                     /site_type="other"
                     /note="putative polypeptide substrate binding site
                     [polypeptide binding]"
                     /db_xref="CDD:240591"
     Region          199..249
                     /region_name="Cauli_VI"
                     /note="Caulimovirus viroplasmin; pfam01693"
                     /db_xref="CDD:426383"
     Region          355..434
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          355..386
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          410..443
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..648
                     /gene="ANKLE2"
                     /gene_synonym="KIAA0692; Lem4; LEMD7; MCPH16"
                     /coded_by="XM_011534788.2:35..1981"
                     /db_xref="GeneID:23141"
                     /db_xref="HGNC:HGNC:29101"
                     /db_xref="MIM:616062"
ORIGIN      
        1 mlwprlaaae waalawellg asvlliavrw lvrrlgprpg glgrsgtpvp ppsaaaapas
       61 gemtmdalla rlkllnpddl reeivkaglk cgpitsttrf ifekklaqal leqggrlssf
      121 yhheagvtal sqdpqrilkp aegnptdqag fsedrdfgys vglnppeeea vtsktcsvpp
      181 sdtdtyraga taskepplyy gvcpvyedvp arneriyvye nkkealqavk mikgsrfkaf
      241 stredaekfa rgicdyfpsp sktslplspv ktaplfsndr lkdglclses etvnkerans
      301 yknprtqdlt aklrkavekg eedtfsdliw snpryligsg dnptivqegc rynvmhvaak
      361 enqasicqlt ldvlenpdfm rlmypdddea mlqkriryvv dlylntpdkm gydtplhfac
      421 kfgnadvvnv lsshhlivkn srnkydktpe dvicersknk svelkerire ylkghyyvpl
      481 lraeetsspv igelwspdqt aeashvsryg gsprdpvltl rafagplspa kaedfrklwk
      541 tpprekagfl hhvkksdper gfervgrela helgypwvey weflgcfvdl ssqeglqrle
      601 eyltqqeigk kaqqetgere ascrdkatts vemrfhridq aglellts
//
LOCUS       XP_016874712             558 aa            linear   PRI 20-MAR-2023
DEFINITION  rac GTPase-activating protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_016874712
VERSION     XP_016874712.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019223.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..558
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..558
                     /product="rac GTPase-activating protein 1 isoform X4"
                     /calculated_mol_wt=61768
     Region          211..264
                     /region_name="C1_MgcRacGAP"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in male germ cell RacGap (MgcRacGAP) and similar
                     proteins; cd20821"
                     /db_xref="CDD:410371"
     Region          272..465
                     /region_name="RhoGAP_MgcRacGAP"
                     /note="RhoGAP (GTPase-activator protein [GAP] for Rho-like
                     small GTPases) domain present in MgcRacGAP proteins.
                     MgcRacGAP plays an important dual role in cytokinesis: i)
                     it is part of centralspindlin-complex, together with the
                     mitotic kinesin MKLP1, which is...; cd04382"
                     /db_xref="CDD:239847"
     Site            order(311,349,353,421,424..425,451)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239847"
     Site            311
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239847"
     Site            313
                     /site_type="active"
                     /note="activation site [active]"
                     /db_xref="CDD:239847"
     CDS             1..558
                     /gene="RACGAP1"
                     /gene_synonym="CDAN3B; CYK4; HsCYK-4; ID-GAP; MgcRacGAP"
                     /coded_by="XM_017019223.3:187..1863"
                     /db_xref="GeneID:29127"
                     /db_xref="HGNC:HGNC:9804"
                     /db_xref="MIM:604980"
ORIGIN      
        1 mcgiclsslc agwrfsvkem kserqiqlir emlmcdtsgs iqlseeqksa laflnrgqps
       61 ssnagnkrls tidesgsils disfdktdes ldwdsslvkt fklkkrekrr stsrqfvdgp
      121 pgpvkktrsi gsavdqgnes ivakttvtvp ndggpieavs tietvpywtr srrktgtlqp
      181 wnsdstlnsr qleprtetds vgtpqsnggm rlhdfvsktv ikpescvpcg krikfgklsl
      241 kcrdcrvvsh pecrdrcplp ciptligtpv kigegmladf vsqtspmips ivvhcvneie
      301 qrgltetgly risgcdrtvk elkekflrvk tvpllskvdd ihaicsllkd flrnlkepll
      361 tfrlnrafme aaeitdedns iaamyqavge lpqanrdtla flmihlqrva qsphtkmdva
      421 nlakvfgpti vahavpnpdp vtmlqdikrq pkvverllsl pleywsqfmm veqenidplh
      481 viensnafst pqtpdikvsl lgpvttpehq llktpssssl sqrvrstltk ntprfgsksk
      541 satnlgrqgn ffaspmlk
//
LOCUS       XP_047284982             737 aa            linear   PRI 20-MAR-2023
DEFINITION  protein phosphatase Slingshot homolog 1 isoform X10 [Homo sapiens].
ACCESSION   XP_047284982
VERSION     XP_047284982.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429026.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..737
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..737
                     /product="protein phosphatase Slingshot homolog 1 isoform
                     X10"
                     /calculated_mol_wt=80553
     Region          10..137
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     CDS             1..737
                     /gene="SSH1"
                     /gene_synonym="SSH1L"
                     /coded_by="XM_047429026.1:159..2372"
                     /db_xref="GeneID:54434"
                     /db_xref="HGNC:HGNC:30579"
                     /db_xref="MIM:606778"
ORIGIN      
        1 mrcylswdrw tspplssiif isvdyilnvt reidnffpgl fayhnirvyd eettdllahw
       61 neayhfinka krnhskclvh ckmgvsrsas tviayamkef gwplekayny vkqkrsitrp
      121 nagfmrqlse yegildaskq rhnklwrqqt dsslqqpvdd pagpgdflpe tpdgtpesql
      181 pflddaaqpg lgpplpccfr rlsdpllpsp edetgslvhl edperealle eaappaevhr
      241 parqpqqgsg lcekdvkkkl efgspkgrsg sllqveeter eeglgagrwg qlptqldqnl
      301 lnsenlnnns krscpngmed daifgilnkv kpsykscadc myptasgape asrercedpn
      361 apaictqpaf lphitsspva hlasrsrvpe kpasgptepp pflppagsrr adtsgpgaga
      421 aleppaslle psretpkvlp kslllknshc dknppstevv ikeesspkkd mkpakdlrll
      481 fsnesekptt nsylmqhqes iiqlqkaglv rkhtkelerl ksvpadpapp srdgpasrle
      541 asipeesqdp aalhelgplv mpsqagsdek seaapasleg gslkspppff yrldhtssfs
      601 kdflkticyt ptsssmssnl trssssdsih svrgkpglvk qrtqeietrl rlagltvssp
      661 lkrshslakl gsltfstedl sseadpstva dsqdttlses sflhepqgtp rdpaatskps
      721 gkpapenlks pswmsks
//
LOCUS       XP_016875443            2168 aa            linear   PRI 20-MAR-2023
DEFINITION  voltage-dependent L-type calcium channel subunit alpha-1C isoform
            X31 [Homo sapiens].
ACCESSION   XP_016875443
VERSION     XP_016875443.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019954.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2168
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..2168
                     /product="voltage-dependent L-type calcium channel subunit
                     alpha-1C isoform X31"
                     /calculated_mol_wt=242689
     Region          153..446
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          553..794
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          929..1206
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1248..1517
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1526..1579
                     /region_name="GPHH"
                     /note="Voltage-dependent L-type calcium channel,
                     IQ-associated; pfam16905"
                     /db_xref="CDD:435642"
     Region          1589..1663
                     /region_name="Ca_chan_IQ"
                     /note="Voltage gated calcium channel IQ domain; pfam08763"
                     /db_xref="CDD:430200"
     Region          1683..2118
                     /region_name="CAC1F_C"
                     /note="Voltage-gated calcium channel subunit alpha,
                     C-term; pfam16885"
                     /db_xref="CDD:435629"
     CDS             1..2168
                     /gene="CACNA1C"
                     /gene_synonym="CACH2; CACN2; CACNA1C-IT2; CACNL1A1;
                     CaV1.2; CCHL1A1; LQT8; NEDHLSS; TS; TS. LQT8"
                     /coded_by="XM_017019954.2:284..6790"
                     /db_xref="GeneID:775"
                     /db_xref="HGNC:HGNC:1390"
                     /db_xref="MIM:114205"
ORIGIN      
        1 mlrafvqpgt payqplpshl santevkfkg tlvheaqlny fyispggsny gsprpahanm
       61 nanaaaglap ehiptpgaal swqaaidaar qaklmgsagn atistvsstq rkrqqygkpk
      121 kqgsttatrp prallcltlk npirracisi vewkpfeiii lltifancva laiyipfped
      181 dsnatnsnle rveylfliif tveaflkvia ygllfhpnay lrngwnlldf iivvvglfsa
      241 ileqatkadg analggkgag fdvkalrafr vlrplrlvsg vpslqvvlns iikamvpllh
      301 iallvlfvii iyaiiglelf mgkmhktcyn qegiadvpae ddpspcalet ghgrqcqngt
      361 vckpgwdgpk hgitnfdnfa famltvfqci tmegwtdvly wmqdamgyel pwvyfvslvi
      421 fgsffvlnlv lgvlsgefsk erekakargd fqklrekqql eedlkgyldw itqaedidpe
      481 nedegmdeek prnmsmptse tesvntenva ggdiegencg arlahrisks kfsrywrrwn
      541 rfcrrkcraa vksnvfywlv iflvflntlt iasehynqpn wltevqdtan kallalftae
      601 mllkmyslgl qayfvslfnr fdcfvvcggi letilvetki msplgisvlr cvrllrifki
      661 trywnslsnl vasllnsvrs iaslllllfl fiiifsllgm qlfggkfnfd emqtrrstfd
      721 nfpqslltvf qiltgedwns vmydgimayg gpsfpgmlvc iyfiilficg nyillnvfla
      781 iavdnladae sltsaqkeee eekerkklar taspekkqel vekpavgesk eekielksit
      841 adgesppatk inmddlqpne nedkspypnp ettgeedeee pempvgprpr plselhlkek
      901 avpmpeasaf fifssnnrfr lqchrivndt iftnlilffi llssislaae dpvqhtsfrn
      961 hilfyfdivf ttiftieial kmtaygaflh kgsfcrnyfn ildllvvsvs lisfgiqssa
     1021 invvkilrvl rvlrplrain rakglkhvvq cvfvairtig nivivttllq fmfacigvql
     1081 fkgklytcsd sskqteaeck gnyitykdge vdhpiiqprs wenskfdfdn vlaammalft
     1141 vstfegwpel lyrsidshte dkgpiynyrv eisiffiiyi iiiaffmmni fvgfvivtfq
     1201 eqgeqeyknc eldknqrqcv eyalkarplr ryipknqhqy kvwyvvnsty feylmfvlil
     1261 lnticlamqh ygqsclfkia mnilnmlftg lftvemilkl iafkpkgyfs dpwnvfdfli
     1321 vigsiidvil setnpaehtq cspsmnaeen srisitffrl frvmrlvkll srgegirtll
     1381 wtfiksfqal pyvallivml ffiyavigmq vfgkialndt teinrnnnfq tfpqavlllf
     1441 rcatgeawqd imlacmpgkk capesepsns tegetpcgss favfyfisfy mlcafliinl
     1501 fvavimdnfd yltrdwsilg phhldefkri waeydpeakg rikhldvvtl lrriqpplgf
     1561 gklcphrvac krlvsmnmpl nsdgtvmfna tlfalvrtal riktegnleq aneelraiik
     1621 kiwkrtsmkl ldqvvppagd devtvgkfya tfliqeyfrk fkkrkeqglv gkpsqrnals
     1681 lqaglrtlhd igpeirrais gdltaeeeld kamkeavsaa seddifrrag glfgnhvsyy
     1741 qsdgrsafpq tfttqrplhi nkagssqgdt espsheklvd stftpssyss tgsnaninna
     1801 nntalgrlpr pagypstvst veghgpplsp airvqevawk lssnrchsre sqaamagqee
     1861 tsqdetyevk mnhdteacse psllstemls yqddenrqlt lpeedkrdir qspkrgflrs
     1921 aslgrrasfh leclkrqkdr ggdisqktvl plhlvhhqal avaglspllq rshspasfpr
     1981 pfatppatpg srgwppqpvp tlrlegvess eklnssfpsi hcgswaettp ggggssaarr
     2041 vrpvslmvps qagapgrqfh gsasslveav liseglgqfa qdpkfievtt qeladacdmt
     2101 ieemesaadn ilsggapqsp ngallpfvnc rdagqdragg eedagcvrar grpseeelqd
     2161 srvyvssl
//
LOCUS       XP_047287091            1068 aa            linear   PRI 20-MAR-2023
DEFINITION  disheveled-associated activator of morphogenesis 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047287091
VERSION     XP_047287091.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431135.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1068
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1068
                     /product="disheveled-associated activator of morphogenesis
                     1 isoform X2"
                     /calculated_mol_wt=122176
     Region          45..232
                     /region_name="Drf_GBD"
                     /note="Diaphanous GTPase-binding Domain; pfam06371"
                     /db_xref="CDD:428906"
     Region          235..439
                     /region_name="Drf_FH3"
                     /note="Diaphanous FH3 Domain; pfam06367"
                     /db_xref="CDD:428904"
     Region          444..>513
                     /region_name="PRK12704"
                     /note="phosphodiesterase; Provisional"
                     /db_xref="CDD:237177"
     Region          600..974
                     /region_name="FH2"
                     /note="Formin Homology 2 Domain; pfam02181"
                     /db_xref="CDD:396655"
     CDS             1..1068
                     /gene="DAAM1"
                     /coded_by="XM_047431135.1:286..3492"
                     /db_xref="GeneID:23002"
                     /db_xref="HGNC:HGNC:18142"
                     /db_xref="MIM:606626"
ORIGIN      
        1 maprkrggrg isfifccfrn ndhpeityrl rndsnfalqt mepalpmppv eeldvmfsel
       61 vdeldltdkh reamfalpae kkwqiycskk kdqeenkgat swpefyidql nsmaarksll
      121 alekeeeeer sktieslkta lrtkpmrfvt rfidldglsc ilnflktmdy etsesrihts
      181 ligcikalmn nsqgrahvla hsesinviaq slsteniktk vavleilgav clvpgghkkv
      241 lqamlhyqky asertrfqtl indldkstgr yrdevslkta imsfinavls qgagvesldf
      301 rlhlryeflm lgiqpvidkl rehenstldr hldffemlrn edelefakrf elvhidtksa
      361 tqmfeltrkr lthseayphf msilhhclqm pykrsgntvq ywllldriiq qiviqndkgq
      421 dpdstplenf niknvvrmlv nenevkqwke qaekmrkehn elqqklekke recdaktqek
      481 eemmqtlnkm keklekette hkqvkqqvad ltaqlhelsr ravcasipgg pspgapggpf
      541 pssvpgsllp pppppplpgg mlpppppplp pggpppppgp pplgaimppp gapmglalkk
      601 ksipqptnal ksfnwsklpe nklegtvwte iddtkvfkil dledlertfs ayqrqqkead
      661 aiddtlsskl kvkelsvidg rraqncnill srlklsndei krailtmdeq edlpkdmleq
      721 llkfvpeksd idlleehkhe ldrmakadrf lfemsrinhy qqrlqslyfk kkfaervaev
      781 kpkveairsg seevfrsgal kqllevvlaf gnymnkgqrg naygfkissl nkiadtkssi
      841 dknitllhyl itivenkyps vlnlneelrd ipqaakvnmt eldkeistlr sglkavetel
      901 eyqksqppqp gdkfvsvvsq fitvasfsfs dvedllaeak dlftkavkhf geeagkiqpd
      961 effgifdqfl qavseakqen enmrkkkeee errarmeaql keqrererkm rkakensees
     1021 gefddlvsal rsgevfdkdl sklkrnrkri tnqmtdssre rpitklnf
//
LOCUS       XP_016877008            2348 aa            linear   PRI 20-MAR-2023
DEFINITION  protein unc-79 homolog isoform X27 [Homo sapiens].
ACCESSION   XP_016877008
VERSION     XP_016877008.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017021519.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2348
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..2348
                     /product="protein unc-79 homolog isoform X27"
                     /calculated_mol_wt=262916
     Region          <16..286
                     /region_name="UNC-79"
                     /note="Cation-channel complex subunit UNC-79; pfam14776"
                     /db_xref="CDD:434201"
     CDS             1..2348
                     /gene="UNC79"
                     /gene_synonym="KIAA1409"
                     /coded_by="XM_017021519.2:635..7681"
                     /db_xref="GeneID:57578"
                     /db_xref="HGNC:HGNC:19966"
                     /db_xref="MIM:616884"
ORIGIN      
        1 mwtlhtsfkl fgmlincssh vrravvtcfs agccgrhgnr pvryckrchs nhhsnevgaa
       61 aethlyqtsp ppintrecga eelvcaveav isllkeaefh aeqrehelnr rrqlglsssh
      121 hsldnadfdn kdddkhdqrl lsqfgiwflv slctpsentp teslarlvam vfqwfhstay
      181 mmddevgslv eklkpqfvtk wlktvcdvrf dvmvmcllpk pmefarvggy wdkscstvtq
      241 lkeglnrilc lipynvinqs vwecimpewl eairtevpdn qlkefrevls kmfdielcpl
      301 pfsmeemfgf iscrftgyps svqeqallwl hvlseldimv plqllismfs dgvnsvkela
      361 nqrksrvsel agnlasrrvs vasdpgrrvq hnmlspfhsp fqspfrsplr spfrspfknf
      421 ghpggrtidf dceddemnln cfilmfdlll kqmelqddgi tmglehslsk diisiinnvf
      481 qapwggshtc qkdekaiecn lcqssilcyq lacellerla pkeesrlvep tdsledslls
      541 srpefiigpe geeeenpask hgenpgncte pvehaavknd terkfcyqql pvtlrliyti
      601 fqemakfeep dilfnmlncl kilclhgecl yiarkdhpqf layiqdhmli aslwrvvkse
      661 fsqlsslavp lllhalslph gadifwtiin gnfnskdwkm rfeavekvav icrfldihsv
      721 tknhllkysl ahafccflta vedvnpavat ragllldtik rpalqglclc ldfqfdtvvk
      781 drptilskll llhflkqdip alsweffvnr fetlsleaql hldcnkefpf pttitavrtn
      841 vanlsdaalw kikrarfarn rqksvrslrd svkgpveskr alslpetlts kipmrltrhe
      901 qsapalggtp eqtpgqqspe ndntikdllp edagidhqtv hqlitvlmkf makdessaes
      961 dissakafnt vkrhlyvllg ydqqegcfmi apqkmrlstc fnafiagiaq vmdyninlgk
     1021 hllplvvqvl kycscpqlrh yfqqpprcsl wslkphirqm wlkallvily kypyrdcdis
     1081 killhlihit vntlnaqyhs ckphatagpl ysdnsnisry sekekeedsv fdesdihdtp
     1141 tgpcnkesqt ffarlkrigg skmvkyqpve mnvqrseiel aeyretgalq dsllhcvree
     1201 sipkkklrsf kqksldigna dsllftldeh rrkscidrcd iekpptqaay iaqrpndpgr
     1261 srqnsatrpd nseipenpam egfpdarrpv ipevrlncme tfevkvdspv kpapkedldl
     1321 idlssdstsg pekhsilsts dsdslvfepl pplrivesde eeetmnqgdd gpsgknaass
     1381 psvpshpsvl slstaplvqv svedcskdfs skdsgnnqsa gntdsalitl edpmdaegss
     1441 kpeelpefsc gspltlkqkr dllqksfalp emslddhpdp gtegekpgel mpssgaktvl
     1501 lkvpedaenp tesekpdtsa esdteqnper kveedgaees efkiqivprq rkqrkiavsa
     1561 iqreyldisf nildklgeqk dpdpstkgls tlempresss aptldagvpe tsshssistq
     1621 yrqmkrgslg vltmsqlmkr qlehqssaph nisnwdteqi qpgkrqcnvp tclnpdlegq
     1681 plrmrgatks sllsapsivs mfvpapeeft deqptvmtdk chdcgailee ydeetlglai
     1741 vvlstfihls pdlaapllld imqsvgrlas sttfsnqaes mmvpgnaagv akqflrcifh
     1801 qlapngifpq lfqstikdgt flrtlasslm dfnelssiaa lsqlleglnn kknlpaggam
     1861 ircleniatf mealpmdsps slwttisnqf qtffaklpcv lplkcsldss lrimicllki
     1921 pstnatrsll epfskllsfv iqnavftlay lvelcglcyr aftkerdkfy lsrsvvlell
     1981 qalklksplp dtnllllvqf icadagtkla estilskqmi asvpgcgtaa mecvrqyine
     2041 vldfmadmht ltklkshmkt csqplhedtf gghlkvglaq iaamdisrgn hrdnkaviry
     2101 lpwlyhppsa mqqgpkefie cvshirllsw lllgslthna vcpnasspcl pipldagshv
     2161 adhlivilig fpeqsktsvl hmcslfhafi faqlwtvyce qsavatnlqn qnefsftail
     2221 talefwsrvt psilqlmahn kvmvemvclh vislmealqe cnstifvkli pmwlpmiqsn
     2281 ikhlsaglql rlqaiqnhvn hhslrtlpgs gqssaglaal rkwlqctqfk maqveiqsse
     2341 aasqfypl
//
LOCUS       XP_047287653             472 aa            linear   PRI 20-MAR-2023
DEFINITION  cadherin-24 isoform X2 [Homo sapiens].
ACCESSION   XP_047287653
VERSION     XP_047287653.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431697.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..472
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..472
                     /product="cadherin-24 isoform X2"
                     /calculated_mol_wt=51237
     Region          70..148
                     /region_name="CA"
                     /note="Cadherin repeats; smart00112"
                     /db_xref="CDD:214520"
     Region          154..255
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(161..162,216,218,251,253..254)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          264..368
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Region          379..469
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     CDS             1..472
                     /gene="CDH24"
                     /gene_synonym="CDH11L"
                     /coded_by="XM_047431697.1:243..1661"
                     /db_xref="GeneID:64403"
                     /db_xref="HGNC:HGNC:14265"
                     /db_xref="MIM:618599"
ORIGIN      
        1 mwglvrllla wlggwgcmgr laaparawag srehpgpall rtrrswvwnq ffvieeyagp
       61 epvligklhs dvdrgegrtk ylltgegagt vfvideatgn ihvtksldre ekaqyvllaq
      121 avdrasnrpl eppsefiikv qdindnppif plgpyhatvp emsnvgtsvi qvtahdaddp
      181 sygnsaklvy tvldglpffs vdpqtgvvrt aipnmdretq eeflvviqak dmgghmggls
      241 gsttvtvtls dvndnppkfp qslyqfsvve tagpgtlvgr lraqdpdlgd nalmaysild
      301 gegseafsis tdlqgrdgll tvrkpldfes qrsysfrvea tntlidpayl rrgpfkdvas
      361 vrvavqdape ppaftqaayh ltvpenkapg tlvgqisaad ldspaspiry silphsdper
      421 cfsiqpeegt ihtaapldre arawhnltvl atelgtihlq ngfihliitt tl
//
LOCUS       XP_011519959             436 aa            linear   PRI 20-MAR-2023
DEFINITION  myelin expression factor 2 isoform X8 [Homo sapiens].
ACCESSION   XP_011519959
VERSION     XP_011519959.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521657.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..436
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..436
                     /product="myelin expression factor 2 isoform X8"
                     /calculated_mol_wt=45990
     Region          69..144
                     /region_name="RRM2_MYEF2"
                     /note="RNA recognition motif 2 (RRM2) found in vertebrate
                     myelin expression factor 2 (MEF-2); cd12660"
                     /db_xref="CDD:410061"
     Region          360..436
                     /region_name="RRM3_MYEF2"
                     /note="RNA recognition motif 3 (RRM3) found in vertebrate
                     myelin expression factor 2 (MEF-2); cd12662"
                     /db_xref="CDD:410063"
     CDS             1..436
                     /gene="MYEF2"
                     /gene_synonym="HsT18564; MEF-2; MST156; MSTP156; myEF-2"
                     /coded_by="XM_011521657.3:105..1415"
                     /db_xref="GeneID:50804"
                     /db_xref="HGNC:HGNC:17940"
                     /db_xref="MIM:619395"
ORIGIN      
        1 mnyqnvirrh kdpdgenarr alqrtggsfp gghvpdmgsg lmnlppsiln npnippevis
       61 nlqagrlgst ifvanldfkv gwkklkevfs iagtvkradi kedkdgksrg mgtvtfeqai
      121 eavqaismfn gqflfdrpmh vkmddksvph eeyrshdgkt pqlprglggi gmglgpggqp
      181 isasqlnigg vmgnlgpggm gmdgpgfggm nrigggigfg gleamnsmgg fggvgrmgel
      241 yrgamtssme rdfgrgdigi nrgfgdsfgr lgsamiggfa grigssnmgp vgsgisggmg
      301 smnsvtggmg mgldrmsssf drmgpgigai lersidmdrg flsgpmgsgm rerigskgnq
      361 ifvrnlpfdl twqklkekfs qcghvmfaei kmengkskgc gtvrfdspes aekacrimng
      421 ikisgreidv rldrna
//
LOCUS       XP_047288734             241 aa            linear   PRI 20-MAR-2023
DEFINITION  protein mono-ADP-ribosyltransferase PARP16 isoform X13 [Homo
            sapiens].
ACCESSION   XP_047288734
VERSION     XP_047288734.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432778.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..241
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..241
                     /product="protein mono-ADP-ribosyltransferase PARP16
                     isoform X13"
                     /calculated_mol_wt=26753
     Region          11..90
                     /region_name="ARTD15_N"
                     /note="ARTD15 N-terminal domain; pfam18084"
                     /db_xref="CDD:436259"
     Region          <107..204
                     /region_name="PARP"
                     /note="Poly(ADP-ribose) polymerase catalytic domain;
                     pfam00644"
                     /db_xref="CDD:395519"
     CDS             1..241
                     /gene="PARP16"
                     /gene_synonym="ARTD15; C15orf30; pART15"
                     /coded_by="XM_047432778.1:458..1183"
                     /db_xref="GeneID:54956"
                     /db_xref="HGNC:HGNC:26040"
ORIGIN      
        1 mqpsgwaaar eaagrdmlaa dlrcslfasa lqsykrdsvl rpfpasyarg dckdfealla
       61 dasklpnlke llqssgdnhk rawdlvswil sskvltihsa gkaetslfge gtyltsdlsl
      121 aliysphghg wqhsllgpil scvavcevid hpdvkcqtkk kdskeidrrr arikhseggd
      181 ippkyfvvtn nqllrvkyll vysqkppkra ssqlswfssh wftvmislyl llllidppam
      241 l
//
LOCUS       XP_005256295             698 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G-protein coupled receptor G1 isoform X1 [Homo sapiens].
ACCESSION   XP_005256295
VERSION     XP_005256295.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005256238.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..698
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..698
                     /product="adhesion G-protein coupled receptor G1 isoform
                     X1"
                     /calculated_mol_wt=78011
     Region          34..167
                     /region_name="PLL"
                     /note="PTX/LNS-Like (PLL) domain; pfam18587"
                     /db_xref="CDD:436599"
     Region          178..225
                     /region_name="GAIN_A"
                     /note="GPCR-Autoproteolysis-INducing (GAIN) subdomain A;
                     pfam18619"
                     /db_xref="CDD:436625"
     Region          350..393
                     /region_name="GPS"
                     /note="GPCR proteolysis site, GPS, motif; pfam01825"
                     /db_xref="CDD:426458"
     Region          405..679
                     /region_name="7tm_GPCRs"
                     /note="seven-transmembrane G protein-coupled receptor
                     superfamily; cl28897"
                     /db_xref="CDD:452889"
     Region          408..432
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:410628"
     Region          448..469
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:410628"
     Region          481..503
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:410628"
     Region          523..539
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:410628"
     Region          572..595
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:410628"
     Region          614..636
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:410628"
     Region          642..667
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:410628"
     CDS             1..698
                     /gene="ADGRG1"
                     /gene_synonym="BFPP; BPPR; GPR56; TM7LN4; TM7XN1"
                     /coded_by="XM_005256238.3:327..2423"
                     /db_xref="GeneID:9289"
                     /db_xref="HGNC:HGNC:4512"
                     /db_xref="MIM:604110"
ORIGIN      
        1 mtpqsllqtt lfllsllflv qasassgahg rghredfrfc sqrnqthrss lhykptpdlr
       61 isienseeal tvhapfpaah pasrsfpdpr glyhfclywn rhagrlhlly gkrdfllsdk
      121 assllcfqhq eeslaqgppl latsvtswws pqnislpsaa sftfsfhspp htaahnasvd
      181 mcelkrdlql lsqflkhpqk asrrpsaapa sqqlqslesk ltsvrfmgdm vsfeedrina
      241 tvwklqptag lqdlhihsrq eeeqseimey svllprtlfq rtkgrsgeae krlllvdfss
      301 qalfqdknss qvlgekvlgi vvqntkvanl tepvvltfqh qlqpknvtlq cvfwvedptl
      361 sspghwssag cetvrretqt scfcnhltyf avlmvssvev davhkhylsl lsyvgcvvsa
      421 laclvtiaay lcsrvplpcr rkprdytikv hmnlllavfl ldtsfllsep valtgseagc
      481 rasaiflhfs lltclswmgl egynlyrlvv evfgtyvpgy llklsamgwg fpiflvtlva
      541 lvdvdnygpi ilavhrtpeg viypsmcwir dslvsyitnl glfslvflfn mamlatmvvq
      601 ilrlrphtqk wshvltllgl slvlglpwal iffsfasgtf qlvvlylfsi itsfqgflif
      661 iwywsmrlqa rggpsplksn sdsarlpiss gstsssri
//
LOCUS       XP_047292673            1004 aa            linear   PRI 20-MAR-2023
DEFINITION  caspase recruitment domain-containing protein 14 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047292673
VERSION     XP_047292673.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436717.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 6% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1004
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1004
                     /product="caspase recruitment domain-containing protein 14
                     isoform X1"
                     /calculated_mol_wt=113139
     Region          19..104
                     /region_name="CARD_CARD14_CARMA2"
                     /note="Caspase activation and recruitment domain of
                     CARD14-like proteins; cd08806"
                     /db_xref="CDD:260068"
     Region          <151..448
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          583..655
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Region          680..742
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:450141"
     Site            order(685,687,690,694,714..715,736,738..739)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212690"
     Region          <858..961
                     /region_name="NK"
                     /note="Nucleoside/nucleotide kinase (NK) is a protein
                     superfamily consisting of multiple families of enzymes
                     that share structural similarity and are functionally
                     related to the catalysis of the reversible phosphate group
                     transfer from nucleoside triphosphates...; cl17190"
                     /db_xref="CDD:450170"
     CDS             1..1004
                     /gene="CARD14"
                     /gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
                     /coded_by="XM_047436717.1:672..3686"
                     /db_xref="GeneID:79092"
                     /db_xref="HGNC:HGNC:16446"
                     /db_xref="MIM:607211"
ORIGIN      
        1 mgelcrrdsa ltaldeetlw emmeshrhri vrcicpsrlt pylrqakvlc qldeeevlhs
       61 prltnsamra ghlldllktr gkngaiafle slkfhnpdvy tlvtglqpdv dfsnfsglme
      121 tsklteclag aigslqeeln qekgqkevll rrcqqlqehl glaetraegl hqleadhsrm
      181 krevsahfhe vlrlkdemls lslhysnalq ekelaasrcr slqeelyllk qelqranmvs
      241 scelelqeqs lrtasdqesg deelnrlkee neklrsltfs laekdileqs ldeargsrqe
      301 lverihslre ravaaerqre qyweekeqtl lqfqkskmac qlyrekvnal qaqvcelqke
      361 rdqaysards aqreisqslv ekdslrrqvf eltdqvcelr tqlrqlqaep pgvlkqeart
      421 repcprekqr lvrmhaicpr ddsdcslvss tesqllsdls atssrelvds frssspapps
      481 qqslykrvae dfgeepwsfs scleipegdp galpgakagd phldyelldt adlpqlessl
      541 qpvspgrldv sesgvlmrrr parrilsqvt mlafqgdall eqisviggnl tgifihrvtp
      601 gsaadqmalr pgtqivmvdy easeplfkav ledttleeav gllrrvdgfc clsvkvntdg
      661 ykrllqdlea kvatsgdsfy irvnlamegr akgelqvhcn evlhvtdtmf qgcgcwhahr
      721 vnsytmkdta ahgtipnysr aqqqlialiq dmtqqctvtr kpssggpqkl vrivsmdkak
      781 asplrlsfdr gqldpsrmeg sstcfwaesc ltlvpytlvr phrparprpv llvpravgki
      841 lseklcllqg fkkclaeyls qeeyeawsqr gdiiqegevs ggrcwvtrha veslmeknth
      901 alldvqldsv ctlhrmdifp ivihvsvnek makklkkglq rlgtseeqll eaarqeegdl
      961 drapclyssl apdgwsdldg llscvrqaia deqkkvvwte qspr
//
LOCUS       XP_047294200             594 aa            linear   PRI 20-MAR-2023
DEFINITION  calpain-12 isoform X10 [Homo sapiens].
ACCESSION   XP_047294200
VERSION     XP_047294200.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438244.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..594
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..594
                     /product="calpain-12 isoform X10"
                     /calculated_mol_wt=66065
     Region          46..339
                     /region_name="Peptidase_C2"
                     /note="Calpain family cysteine protease; pfam00648"
                     /db_xref="CDD:425798"
     Site            order(105,259,283)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:238004"
     Region          352..527
                     /region_name="Calpain_III"
                     /note="Calpain, subdomain III. Calpains are
                     calcium-activated cytoplasmic cysteine proteinases,
                     participate in cytoskeletal remodeling processes, cell
                     differentiation, apoptosis and signal transduction.
                     Catalytic domain and the two calmodulin-like domains
                     are...; cd00214"
                     /db_xref="CDD:238132"
     Site            order(390..392,424)
                     /site_type="other"
                     /note="acidic loop"
                     /db_xref="CDD:238132"
     CDS             1..594
                     /gene="CAPN12"
                     /coded_by="XM_047438244.1:310..2094"
                     /db_xref="GeneID:147968"
                     /db_xref="HGNC:HGNC:13249"
                     /db_xref="MIM:608839"
ORIGIN      
        1 masssgrvti qlvdeeagvg agrlqlfrgq syeairaacl dsgilfrdpy fpagpdalgy
       61 dqlgpdseka kgvkwmrphe fcaepkfice dmsrtdvcqg slgncwflaa aasltlyprl
      121 lrrvvppgqd fqhgyagvfh fqlwqfgrwm dvvvddrlpv regklmfvrs eqrnefwapl
      181 lekayaklhg syevmrgghm neafvdftgg vgevlylrqn smglfsalrh alakeslvga
      241 talsdrgeyr teeglvkgha ysitgthkvf lgftkvrllr lrnpwgcvew tgawsdscpr
      301 wdtlptecrd allvkkedge fwmelrdfll hfdtvqicsl spevlgpspe gggwhvhtfq
      361 grwvrgfnsg gsqpnaetfw tnpqfrltll epdeeddede egpwggwgaa gargparggr
      421 tpkctvllsl iqrnrrrlra kgltyltvgf hvfqipeell glwdsprsha llprllradr
      481 splsarrdvt rrcclrpghy lvvpstahag deadftlrvf serrhtagdr rrdqrrpavs
      541 pggdcswrgg mgrgswpaln frhaagplpa pgagvgaavs gagwrdwete vpsg
//
LOCUS       XP_016882707             682 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 45 isoform X1 [Homo sapiens].
ACCESSION   XP_016882707
VERSION     XP_016882707.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027218.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..682
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..682
                     /product="zinc finger protein 45 isoform X1"
                     /calculated_mol_wt=78111
     Region          8..67
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Site            order(148,150..151,154..155,157,171,173,177..178,181..182,
                     185,199,201,203,205..206,209..210,213)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          166..186
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          169..542
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          194..214
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          251..270
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          278..298
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          306..326
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(311,313,315,317..318,321..322,325,339,341,345..346,
                     349..350,353,367,369,371,373..374,377..378,381)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          334..354
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          362..382
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          390..410
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          418..438
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          446..466
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(451,453,455,457..458,461..462,465,479,481,485..486,
                     489..490,493,507,509,511,513..514,517..518,521)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          474..494
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <496..607
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          502..522
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          530..550
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          558..578
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          586..606
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(591,593,595,597..598,601..602,605,619,621,625..626,
                     629..630,633,647,649,651,653..654,657..658,661)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          598..622
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          614..634
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          626..650
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          642..662
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..682
                     /gene="ZNF45"
                     /gene_synonym="KOX5; ZNF13"
                     /coded_by="XM_017027218.2:1313..3361"
                     /db_xref="GeneID:7596"
                     /db_xref="HGNC:HGNC:13111"
                     /db_xref="MIM:194554"
ORIGIN      
        1 mtkskeavtf kdvavvfsee elqlldlaqr klyrdvmlen frnvvsvghq stpdglpqle
       61 reeklwmmkm atqrdnssga knlkemetlq evglrylphe elfcsqiwqq itrelikyqd
      121 svvniqrtgc qlekrddlhy kdegfsnqss hlqvhrvhtg ekpykgehcv ksfswsshlq
      181 inqrahagek pykcekcdna frrfsslqah qrvhsraksy tndasyrsfs qrshlphhqr
      241 vptgenpyky eecgrnvgks shcqaplivh tgekpykcee cgvgfsqrsy lqvhlkvhtg
      301 kkpykceecg ksfswrsrlq aherihtgek pykcnacgks fsysshlnih crihtgekpy
      361 kceecgkgfs vgshlqahqi shtgekpykc eecgkgfcra snlldhqrgh tgekpyqcda
      421 cgkgfsrssd fnihfrvhtg ekpykceecg kgfsqasnll ahqrghtgek pykcgtcgkg
      481 fsrssdlnvh crihtgekpy kcercgkafs qfsslqvhqr vhtgekpyqc aecgkgfsvg
      541 sqlqahqrch tgekpyqcee cgkgfcrasn flahrgvhtg ekpyrcdvcg krfrqrsylq
      601 ahqrvhtger pykceecgkv fswssylqah qrvhtgekpy kceecgkgfs wsssliihqr
      661 vhaddegdkd fpssedshrk tr
//
LOCUS       XP_011526653             383 aa            linear   PRI 20-MAR-2023
DEFINITION  harmonin-binding protein USHBP1 isoform X1 [Homo sapiens].
ACCESSION   XP_011526653
VERSION     XP_011526653.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011528351.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..383
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..383
                     /product="harmonin-binding protein USHBP1 isoform X1"
                     /calculated_mol_wt=40962
     Region          299..>348
                     /region_name="MCC-bdg_PDZ"
                     /note="PDZ domain of MCC-2 bdg protein for Usher syndrome;
                     pfam10506"
                     /db_xref="CDD:431325"
     CDS             1..383
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /coded_by="XM_011528351.4:124..1275"
                     /db_xref="GeneID:83878"
                     /db_xref="HGNC:HGNC:24058"
                     /db_xref="MIM:611810"
ORIGIN      
        1 msaratrprs rrgrhappge ldpvaessee veaasgsskp sfapppvssg leqlgpmeev
       61 sgqglgsrtd kkmdggsgre lasapevphk paveahqape aalqyketvp pgngapdvfq
      121 tlqhtlssle aaaaawrhqp pshsgpmefe gtseggagsl gkqegagscq reaarlaern
      181 awlrlalssr edelvrtqas leairaeket lqkevqelqd sllrlepcph lshnqaggsg
      241 sgsssseadr epwetqdsfs lahpllrrlr shsstqilgs lpnqplspem himeaqmeql
      301 rgsieklkcf nrllsavlqg ykgrceglsm qlgqreaeat alhlalqyrv llchpgwsav
      361 vpswltatsa spvqvillpq ppe
//
LOCUS       XP_016859805             859 aa            linear   PRI 20-MAR-2023
DEFINITION  vacuolar protein sorting-associated protein 54 isoform X3 [Homo
            sapiens].
ACCESSION   XP_016859805
VERSION     XP_016859805.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004316.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..859
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..859
                     /product="vacuolar protein sorting-associated protein 54
                     isoform X3"
                     /calculated_mol_wt=97218
     Region          618..749
                     /region_name="Vps54"
                     /note="Vps54-like protein; pfam07928"
                     /db_xref="CDD:429741"
     CDS             1..859
                     /gene="VPS54"
                     /gene_synonym="HCC8; hVps54L; PPP1R164; SLP-8p; VPS54L;
                     WR"
                     /coded_by="XM_017004316.2:624..3203"
                     /db_xref="GeneID:51542"
                     /db_xref="HGNC:HGNC:18652"
                     /db_xref="MIM:614633"
ORIGIN      
        1 mcvprnpqre kihercknic ppkdtfertl lhthdksrtd leqvpkifmk pdfalddslt
       61 fnsvlpwshf ntaggkgnrd aasskllqek lshyldivev niahqislrs eaffhamtsq
      121 helqdylrkt sqavkmlrdk iaqidkvmce gslhilrlal trnncvkvyn klklmatvhq
      181 tqptvqvlls tsefvgaldl iattqevlqq elqgihsfrh lgsqlcelek lidkmmiaef
      241 styshsdlnr pleddcqvle eerlislvfg llkqrklnfl eiygekmvit akniikqcvi
      301 nkvsqteeid tdvvvkladq mrmlnfpqwf dllkdifskf tiflqrvkat lniihsvvls
      361 vldknqrtre leeisqqkna akdnsldtev aylihegmfi sdafgegelt piavdttsqr
      421 naspnsepcs sdsvsepect tdsssskeht sssaipggvd imvsedmklt dselgklann
      481 iqellysasd ichdravkfl msrakdgfle klnsmefitl srlmetfild teqicgrkst
      541 sllgalqsqa ikfvnrfhee rktklsllld nerwkqadvp aefqdlvdsl sdgkialpek
      601 ksgateerkp aevlivegqq yavvgtvlll iriileycqc vdnipsvttd mltrlsdllk
      661 yfnsrscqlv lgagalqvvg lktittknla lssrclqliv hyipvirahf earlppkqys
      721 mlrhfdhitk dyhdhiaeis aklvaimdsl fdkllskyev kapvpsacfr nickqmtkmh
      781 eaifdllpee qtqmlflrin asyklhlkkq lshlnvindg gpqnglvtad vafytgnlqa
      841 lkglkdldln maeiweqkr
//
LOCUS       XP_011531244             388 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase FANCL isoform X3 [Homo sapiens].
ACCESSION   XP_011531244
VERSION     XP_011531244.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011532942.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..388
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..388
                     /product="E3 ubiquitin-protein ligase FANCL isoform X3"
                     /calculated_mol_wt=44202
     Region          5..93
                     /region_name="WD-3"
                     /note="WD-repeat region; pfam09765"
                     /db_xref="CDD:430808"
     Region          108..202
                     /region_name="FANCL_d2"
                     /note="FANCL UBC-like domain 2; pfam18890"
                     /db_xref="CDD:436810"
     Region          205..300
                     /region_name="FANCL_d3"
                     /note="FANCL UBC-like domain 3; pfam18891"
                     /db_xref="CDD:436811"
     Region          308..369
                     /region_name="FANCL_C"
                     /note="FANCL C-terminal domain; pfam11793"
                     /db_xref="CDD:432077"
     Site            order(313..317,320..321,341..342,345..346,365..366,368)
                     /site_type="other"
                     /note="E2 binding site [polypeptide binding]"
                     /db_xref="CDD:438153"
     CDS             1..388
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /coded_by="XM_011532942.4:68..1234"
                     /db_xref="GeneID:55120"
                     /db_xref="HGNC:HGNC:20748"
                     /db_xref="MIM:608111"
ORIGIN      
        1 mavteasllr qcplllpqnr sktvyegfis aqgrdfhlri vlpedlqlkn arllcswqlr
       61 tilsgyhriv qqrmqhspdl msfmmelkml levalknrqe lyalppppqf ysslieeigt
      121 lgwdklvyad tcfstiklka edasgrehli tlklkakypa espdyfvdfp vpfcaswtpq
      181 vnspqsslis iysqflaaie slkafwdvmd eidektwvle pekpprsata rrialgnnvs
      241 inievdprhp tmlpecfflg adhvvkplgi klsrnihlwd pensvlqnlk dvleidfpar
      301 aileksdftm dcgicyayql dgtipdqvcd nsqcgqpfhq iclyewlrgl ltsrqsfnii
      361 fgecpycskv skllitshkm clafsnmf
//
LOCUS       XP_047295791             289 aa            linear   PRI 20-MAR-2023
DEFINITION  ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform
            X7 [Homo sapiens].
ACCESSION   XP_047295791
VERSION     XP_047295791.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439835.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..289
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..289
                     /product="ranBP-type and C3HC4-type zinc finger-containing
                     protein 1 isoform X7"
                     /calculated_mol_wt=32159
     Region          70..150
                     /region_name="Ubl_HOIL1"
                     /note="ubiquitin-like (Ubl) domain found in heme-oxidized
                     IRP2 ubiquitin ligase 1 (HOIL-1) and similar proteins;
                     cd01799"
                     /db_xref="CDD:340497"
     Site            order(73,78..80,82..84,86..89,108..109,111..112,148..150)
                     /site_type="other"
                     /note="UBA interaction site [polypeptide binding]"
                     /db_xref="CDD:340497"
     Region          214..234
                     /region_name="ZnF_RBZ"
                     /note="Zinc finger domain; smart00547"
                     /db_xref="CDD:197784"
     Region          214..233
                     /region_name="RanBP2-type Zn finger"
                     /note="RanBP2-type Zn finger [structural motif]"
                     /db_xref="CDD:275376"
     CDS             1..289
                     /gene="RBCK1"
                     /gene_synonym="C20orf18; HOIL-1; HOIL1; PBMEI; PGBM1;
                     RBCK2; RNF54; UBCE7IP3; XAP3; XAP4; ZRANB4"
                     /coded_by="XM_047439835.1:460..1329"
                     /db_xref="GeneID:10616"
                     /db_xref="HGNC:HGNC:15864"
                     /db_xref="MIM:610924"
ORIGIN      
        1 mdektkkape nkpcanwlll ywlsaeemal sltravaggd eqvamkcaiw laeqrvplsv
       61 qlkpevsptq dirlwvsved aqmhtvtiwl tvrpdmtvas lkdmvfldyg fppvlqqwvi
      121 gqrlardqet lhshgvrqng dsaylyllsa rntslnpqel qrerqlrmle dlgfkdltlq
      181 prgplepgpp kpgvpqepgr gqpdavpepp pvgwqcpgct finkptrpgc emccrarpea
      241 yqvpasyqpd eeerarlage eealrqyqqg vpaghhpqqp ggggllplh
//
LOCUS       XP_011527307             692 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidate phosphatase LPIN3 isoform X11 [Homo sapiens].
ACCESSION   XP_011527307
VERSION     XP_011527307.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011529005.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..692
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..692
                     /product="phosphatidate phosphatase LPIN3 isoform X11"
                     /calculated_mol_wt=75355
     Region          1..107
                     /region_name="Lipin_N"
                     /note="lipin, N-terminal conserved region; pfam04571"
                     /db_xref="CDD:428016"
     Region          439..530
                     /region_name="Lipin_mid"
                     /note="Lipin/Ned1/Smp2 multi-domain protein middle domain;
                     pfam16876"
                     /db_xref="CDD:435622"
     Region          593..>683
                     /region_name="HAD_like"
                     /note="Haloacid Dehalogenase-like Hydrolases; cl21460"
                     /db_xref="CDD:451251"
     CDS             1..692
                     /gene="LPIN3"
                     /gene_synonym="dJ620E11.2; LIPN3L; SMP2"
                     /coded_by="XM_011529005.3:191..2269"
                     /db_xref="GeneID:64900"
                     /db_xref="HGNC:HGNC:14451"
                     /db_xref="MIM:605520"
ORIGIN      
        1 mnyvgqlaet vfgtvkelyr glnpatlsgg idvlvvkqvd gsfrcspfhv rfgklgvlrs
       61 rekvvdieln gepvdlhmkl gdsgeaffvq elesddehvp pglctspipw gglsgfpsds
      121 qlgtasepeg lvmagtastg rrkrrrrrkp kqkedavatd sspeeleaga eselslpekl
      181 rpeppgsvql eeksslqpkd iypysdgewp pqaslsagel tspksdsele vrtpepsplr
      241 aeshmqwawg rlpkvaraer pessvvlegr agatspprgg pstpstsvag gvdplglpiq
      301 qteagadlqp dtedptlvgp plhtpetees ktqssgdmgl ppaskswswa tlevpvptgq
      361 pervsrgkgs pkrsqhlgps diylddlpsl dsenaalyfp qsdsglgarr wsepssqksl
      421 rdpnpehepe ptldtvdtia lslcgglads rdislekfnq hsvsyqdltk npgllddpnl
      481 vvkingkhyn wavaapmils lqafqknlpk stmdklerek mprkggrwwf swrrrdflae
      541 ersaqkekta akeqqgekte vlssdddapd spvileipsl ppstppstpt ykkslrlssd
      601 qirrlnlqeg andvvfsvtt qyqgtcrcka tiylwkwddk vvisdidgti tksdalghil
      661 pqlgkdwthq gitslyhkiq lsgkgsspga vf
//
LOCUS       XP_047304858            1478 aa            linear   PRI 20-MAR-2023
DEFINITION  FYVE and coiled-coil domain-containing protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047304858
VERSION     XP_047304858.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448902.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1478
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1478
                     /product="FYVE and coiled-coil domain-containing protein 1
                     isoform X1"
                     /calculated_mol_wt=166852
     Region          7..164
                     /region_name="RUN_FYCO1"
                     /note="RUN domain found in FYVE and coiled-coil
                     domain-containing protein 1 (FYCO1) and similar proteins;
                     cd17698"
                     /db_xref="CDD:439060"
     Region          243..1050
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          978..>1164
                     /region_name="PRK11281"
                     /note="mechanosensitive channel MscK"
                     /db_xref="CDD:236892"
     Region          1170..1227
                     /region_name="FYVE_FYCO1"
                     /note="FYVE domain found in FYVE and coiled-coil
                     domain-containing protein 1 (FYCO1) and similar proteins;
                     cd15726"
                     /db_xref="CDD:277265"
     Site            order(1170,1173,1191..1196,1198..1199,1221..1223)
                     /site_type="other"
                     /note="putative phosphatidylinositol 3-phosphate binding
                     site [chemical binding]"
                     /db_xref="CDD:277265"
     Region          <1419..1464
                     /region_name="GOLD_2"
                     /note="Golgi-dynamics membrane-trafficking; pfam13897"
                     /db_xref="CDD:433565"
     CDS             1..1478
                     /gene="FYCO1"
                     /gene_synonym="CATC2; CTRCT18; RUFY3; ZFYVE7"
                     /coded_by="XM_047448902.1:300..4736"
                     /db_xref="GeneID:79443"
                     /db_xref="HGNC:HGNC:14673"
                     /db_xref="MIM:607182"
ORIGIN      
        1 mastnaesql qriirdlqda vtelskefqe agepitddst slhkfsykle yllqfdqkek
       61 atllgnkkdy wdyfcaclak vkgandgirf vksiselrts lgkgrafiry slvhqrladt
      121 lqqcfmntkv tsdwyyarsp flqpklssdi vgqlyeltev qfdlasrgfd ldaawptfar
      181 rtlttgssay lwkppsrsss msslvssylq tqemvsnfdl nsplnneale gfdemrleld
      241 qlevrekqlr ermqqldren qelraavsqq geqlqterer grtaaednvr ltclvaelqk
      301 qwevtqatqn tvkelqtclq glelgaaeke edyhtalrrl esmlqplaqe leatrdsldk
      361 knqhlasfpg wlamaqqkad tasdtkgrqe pipsdaaqem qelgeklqal erertkveev
      421 nrqqsaqleq lvkelqlked araslerlvk emaplqeels gkgqeadqlw rrlqellaht
      481 ssweeelael rrekkqqqee kelleqevrs ltrqlqflet qlaqvsqhvs dleeqkkqli
      541 qdkdhlsqqv gmlerlagpp gpelpvagek nealvpvnss lqeawgkpee eqrglqeaql
      601 ddtkvqegsq eeelrqanre lekelqnvvg rnqllegklq alqadyqalq qresaiqgsl
      661 asleaeqasi rhlgdqmeas llavrkakea mkaqmaekea ilqskegecq qlreeveqcq
      721 qlaearhrel ralesqcqqq tqlievltae kgqqgvgppt dnearelaaq lalsqaqlev
      781 hqgevqrlqa qvvdlqakmr aalddqdkvq sqlsmaeavl rehktlvqql keqnealnra
      841 hvqellqcse regalqeera deaqqreeel ralqeelsqa kcsseeaqle haelqeqlhr
      901 antdtaelgi qvcaltveke rveealacav qelqdakeaa srereglerq vaglqqekes
      961 lqeklkaaka aagslpglqa qlaqaeqraq slqeaahqel ntlkfqlsae imdyqsrlkn
     1021 ageeckslrg qleeqgrqlq aaeeaveklk atqadmgekl sctsnhlaec qaamlrkdke
     1081 gaalredler tqkelekatt kiqeyynklc qevtnrernd qkmladlddl nrtkkyleer
     1141 liellrdkda lwqksdalef qqklsaeerw lgdteanhcl dckrefswmv rrhhcricgr
     1201 ifcyyccnny vlskhggkke rccracfqkl segpgspdss gsgtsqgeps palspaspgp
     1261 qatggqgant dyrppddavf diitdeelcq iqesgsslpe tptetdsldp naaeqdttst
     1321 sltpedtedm pvgqdseicl lksgelmikv pltvdeiasf gegsrelfvr sstyslipit
     1381 vaeagltisw vfssdpksis fsvvfqeaed tpldqckvli pttrcnshke niqgqlkvrt
     1441 pgiymlifdn tfsrfvskkv fyhltvdrpv iydgsdfl
//
LOCUS       XP_011512079            1029 aa            linear   PRI 20-MAR-2023
DEFINITION  cytoplasmic polyadenylation element-binding protein 2 isoform X2
            [Homo sapiens].
ACCESSION   XP_011512079
VERSION     XP_011512079.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011513777.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1029
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1029
                     /product="cytoplasmic polyadenylation element-binding
                     protein 2 isoform X2"
                     /calculated_mol_wt=109057
     Region          772..863
                     /region_name="RRM1_CPEB2_like"
                     /note="RNA recognition motif 1 (RRM1) found in cytoplasmic
                     polyadenylation element-binding protein CPEB-2, CPEB-3,
                     CPEB-4 and similar protiens; cd12724"
                     /db_xref="CDD:410123"
     Region          880..960
                     /region_name="RRM2_CPEB2_like"
                     /note="RNA recognition motif 2 (RRM2) found in cytoplasmic
                     polyadenylation element-binding protein CPEB-2, CPEB-3,
                     CPEB-4 and similar protiens; cd12726"
                     /db_xref="CDD:410125"
     Region          955..1016
                     /region_name="CEBP_ZZ"
                     /note="Cytoplasmic polyadenylation element-binding protein
                     ZZ domain; pfam16366"
                     /db_xref="CDD:406704"
     CDS             1..1029
                     /gene="CPEB2"
                     /gene_synonym="CPE-BP2; CPEB-2; hCPEB-2"
                     /coded_by="XM_011513777.4:194..3283"
                     /db_xref="GeneID:132864"
                     /db_xref="HGNC:HGNC:21745"
                     /db_xref="MIM:610605"
ORIGIN      
        1 mrdfgfgvlq taplrssspg plfcgeaygp yavgsvnplp satpfgplsp pplpvtgfle
       61 aaspfsvplg ggagspaaaa sssspflahq qtmqdelllg ltqqparpls gaaateklpd
      121 hhpgggtiag vthllpsqdf kpslhhpsss sassccccrt sspqdfskrq qqqlssqkrk
      181 efspphlphp pdskpppppp plhcpgrfsp ppppagpllq paqlaqrqqq qppqqfsllh
      241 qqhlspqdfa prqrpadlpp lpqlppsppa aprrrhggag sprktpaage gsaaespnag
      301 lasstpvnpa pgsmespnhp llnspsnllp ggalgagafs slqspdlphp gggggggggg
      361 ppgggggggs asppplpgfg tpwsvqtasp ppqpqqpppt qpqqqppppq qppqpqpqpp
      421 gssattpggg sggslsampp pspdsengfy pglpssmnpa ffpsfspvsp hgctglsvpt
      481 sggggggfgg pfsatavppp pppamnipqq qppppaapqq pqsrrspvsp qlqqqhqaaa
      541 aaflqqrnsy nhhqpllkqs pwsnhqssgw gtgsmswgam hgrdhrrtgn mgipgtmnqi
      601 splkkpfsgn viappkftrs tpsltpkswi ednvfrtdnn sntllplqvr mvrsslqlpa
      661 wgsdslqdsw ctaagtsrid qdrsrmydsl nmhslensli dimraehdpl kgrlsyphpg
      721 tdnllmlngr sslfpiddgl lddghsdqvg vlnsptcysa hqngerierf srkvfvgglp
      781 pdidedeita sfrrfgplvv dwphkaesks yfppkgyafl lfqeessvqa lidacieedg
      841 klylcvsspt ikdkpvqirp wnlsdsdfvm dgsqpldprk tifvggvprp lravelamim
      901 drlyggvcya gidtdpelky pkgagrvafs nqqsyiaais arfvqlqhgd idkrvevkpy
      961 vlddqmcdec qgarcggkfa pffcanvtcl qyycefcwan ihsragrefh kplvkegadr
     1021 prqihfrwn
//
LOCUS       XP_011529980             916 aa            linear   PRI 20-MAR-2023
DEFINITION  ribosome biogenesis protein SPATA5 isoform X2 [Homo sapiens].
ACCESSION   XP_011529980
VERSION     XP_011529980.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011531678.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..916
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..916
                     /product="ribosome biogenesis protein SPATA5 isoform X2"
                     /calculated_mol_wt=100220
     Region          46..132
                     /region_name="CDC48_N"
                     /note="Cell division protein 48 (CDC48) N-terminal domain;
                     smart01073"
                     /db_xref="CDD:215012"
     Region          <322..912
                     /region_name="CDC48"
                     /note="AAA family ATPase, CDC48 subfamily; TIGR01243"
                     /db_xref="CDD:273521"
     CDS             1..916
                     /gene="SPATA5"
                     /gene_synonym="AFG2; EHLMRS; NEDHSB; SPAF"
                     /coded_by="XM_011531678.3:66..2816"
                     /db_xref="GeneID:166378"
                     /db_xref="HGNC:HGNC:18119"
                     /db_xref="MIM:613940"
ORIGIN      
        1 msskknrkrl nqsaengssl psaasscaea rapsagsdfa atsgtltvtn llekddkipk
       61 tfqnslihlg lntmksanic igrpvlltsl ngkqevytaw pmagfpggkv glsemaqknv
      121 gvrpgdaiqv qplvgavlqa eemdvalsdk dmeineeelt gcilrkldgk ivlpgnflyc
      181 tfygrpyklq vlrvkgadgm ilggpqsdsd tdaqrmafeq ssmetsslel slqlsqldle
      241 dtqiptsrst pykpiddrit nkasdvlldv tqspgdgsgl mleevtglkc nfesaregne
      301 qlteeerllk fsigakcntd tfyfissttr vnfteidkns keqdnqfkvt ydmigglssq
      361 lkaireiiel plkqpelfks ygipaprgvl lygppgtgkt miaravanev gayvsvingp
      421 eiiskfyget eaklrqifae atlrhpsiif ideldalcpk regaqnevek rvvaslltlm
      481 dgigsevseg qvlvlgatnr phaldaalrr pgrfdkeiei gvpnaqdrld ilqkllrrvp
      541 hllteaellq lansahgyvg adlkvlcnea agtrilkahm yvsafatglt qtpqglcalr
      601 rilkkqpnlp dvkvaglvki tlkdflqamn dirpsamrei aidvpnvsws digglesikl
      661 kleqavewpl khpesfirmg iqppkgvlly gppgcsktmi akalanesgl nflaikgpel
      721 mnkyvgeser avretfrkar avapsiiffd eldalaverg sslgagnvad rvlaqlltem
      781 dgieqlkdvt ilaatnrpdr idkalmrpgr idriiyvplp daatrreifk lqfhsmpvsn
      841 evdldelilq tdaysgaeiv avcreaalla leediqanli mkrhftqals tvtpripesl
      901 rrfyedyqek sglhtl
//
LOCUS       XP_005262915            3544 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat and FYVE domain-containing protein 3 isoform X1 [Homo
            sapiens].
ACCESSION   XP_005262915
VERSION     XP_005262915.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005262858.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3544
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..3544
                     /product="WD repeat and FYVE domain-containing protein 3
                     isoform X1"
                     /calculated_mol_wt=397076
     Region          2552..2675
                     /region_name="PH_BEACH"
                     /note="Pleckstrin homology domain in BEACH domain
                     containing proteins; cd01201"
                     /db_xref="CDD:275391"
     Region          2713..2994
                     /region_name="Beach"
                     /note="Beige/BEACH domain; smart01026"
                     /db_xref="CDD:214982"
     Region          3102..>3264
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          3102..3143
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3149..3185
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3190..3227
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3234..3273
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3467..3531
                     /region_name="FYVE_WDFY3"
                     /note="FYVE domain found in WD40 repeat and FYVE
                     domain-containing protein 3 (WDFY3) and similar proteins;
                     cd15719"
                     /db_xref="CDD:277259"
     Site            order(3469,3472,3490..3495,3497..3498,3522..3524)
                     /site_type="other"
                     /note="putative phosphatidylinositol 3-phosphate binding
                     site [chemical binding]"
                     /db_xref="CDD:277259"
     CDS             1..3544
                     /gene="WDFY3"
                     /gene_synonym="ALFY; BCHS; MCPH18; ZFYVE25"
                     /coded_by="XM_005262858.6:797..11431"
                     /db_xref="GeneID:23001"
                     /db_xref="HGNC:HGNC:20751"
                     /db_xref="MIM:617485"
ORIGIN      
        1 mnmvkrimgr prqeecspqd nalglmhlrr lftelchppr hmtqkeqeek lymmlpvfnr
       61 vfgnappntm tekfsdllqf ttqvsrlmvt eirrrasnks tekqcallsp kdfkattpse
      121 aasraivqfl einqseeasr gwmllttinl lassgqktvd cmttmsvpst lvkclylffd
      181 lphvpeavgg aqnelplaer rgllqkvfvq ilvklcsfvs paeelaqkdd lqllfsaits
      241 wcppynlpwr ksagevlmti srhglsvnvv kyihekecls tcvqnmqqsd dlspleivem
      301 faglscflkd ssdvsqtlld dfriwqgynf lcdlllrleq akeaeskdal kdlvnlitsl
      361 ttygvselkp agittgapfl lpgfavpqpa gkghsvrnvq afavlqnafl kaktsflaqi
      421 ildaitniym adnanyfile sqhtlsqfae kisklpevqn kyfemlefvv fslnyipcke
      481 lisvsillks sssyhcsiia mktllkftrh dyifkdvfre vgllevmvnl lhkyaallkd
      541 ptqalneqgd srnnssvedq khlallvmet ltvllqgsnt nagifrefgg arcahnivky
      601 pqcrqhalmt iqqlvlspng dddmgtllgl mhsapptelq lktdilrall svlreshrsr
      661 tvfrkvggfv yitsllvame rslscppkng wekvnqnqvf ellhtvfctl taamryepan
      721 shffkteiqy ekladavrfl gcfsdlrkis amnvfpsntq pfqrlleedv isiesvsptl
      781 rhcsklfiyl ykvatdsfds raeqippclt sesslpspwg tpalsrkrha yhsvstppvy
      841 ppknvadlkl hvttsslqss daviihpgam lamldllasv gsvtqpehal dlqlavanil
      901 qslvhternq qvmceaglha rllqrcsaal adedhslhpp lqrmferlas qalepmvlre
      961 flrlasplnc gawdkkllkq yrvhkpssls yepemrssmi tsleglgtdn vfslhednhy
     1021 riskslvksa egstvpltrv kclvsmttph dirlhgssvt pafvefdtsl egfgclflps
     1081 laphnaptnn tvttglidga vvsgigsger ffpppsglsy sswfciehfs sppnnhpvrl
     1141 ltvvrranss eqhyvclaiv lsakdrsliv stkeellqny vddfseessf yeilpccarf
     1201 rcgeliiegq whhlvlvmsk gmlknstaal yidgqlvntv klhyvhstpg gsgsanppvv
     1261 stvyayigtp paqrqiaslv wrlgpthfle evlpssnvtt iyelgpnyvg sfqavcmpck
     1321 daksegvvps pvslvpeekv sfglyalsvs sltvarirkv ynkldskaia kqlgisshen
     1381 atpvklihns aghlngsart igaaligylg vrtfvpkpva ttlqyvggaa ailglvamas
     1441 dveglyaavk alvcvvksnp laskemerik gyqllamllk kkrsllnshi lhltfslvgt
     1501 vdsghetsii pnstafqdll cdfevwlhap yelhlslfeh fielltesse asknaklmre
     1561 fqlipklllt lrdmslsqpt iaaisnvlsf llqgfpssnd llrfgqfiss tlptfavcek
     1621 fvvmeinnee kldtgteeef gglvsanlil lrnrlldill kliytskekt sinlqaceel
     1681 vktlgfdwim mfmeehlhst tvtaamrilv vllsnqsili kfkeglsggg wleqtdsvlt
     1741 nkigtvlgfn vgrsaggrst vreinrdach fpgfpvlqsf lpkhtnvpal yfllmalflq
     1801 qpvselpenl qvsvpviscr skqgcqfdld siwtfifgvp assgtvvssi hnvcteavfl
     1861 llgmlrsmlt spwqseeegs wlreypvtlm qffrylyhnv pdlasmwmsp dflcalaatv
     1921 fpfnirpyse mvtdlddevg spaeefkafa adtgmnrsqs eycnvgtkty ltnhpakkfv
     1981 fdfmrvliid nlcltpaskq tplidlllea sperstrtqq kefqtyilds vmdhllaadv
     2041 llgedaslpi tsggsyqvlv nnvfyftqrv vdklwqgmfn keskllidfi iqliaqskrr
     2101 sqglsldavy hclnrtilyq fsrahktvpq qvalldslrv ltvnrnlilg pgnhdqefis
     2161 clahclinlh vgsnvdgfgl eaearmttwh imipsdiepd gsysqdiseg rqllikavnr
     2221 vwtelihskk qvleelfkvt lpvnerghvd iatarpliee aalkcwqnhl ahekkcisrg
     2281 ealapttqsk lsrvssgfgl skltgsrrnr kesglnkhsl stqeisqwmf thiavvrdlv
     2341 dtqykeyqer qqnalkyvte ewcqiecell rerglwgppi gshldkwmle mtegpcrmrk
     2401 kmvrndmfyn hypyvpeteq etnvaseips kqpetpddip qkkparyrra vsydskeyym
     2461 rlasgnpaiv qdaivesseg eaaqqepehg edtiakvkgl vkpplkrsrs apdggdeenq
     2521 eqlqdqiaeg ssieeeektd natllrllee gekiqhmyrc arvqgldtse glllfgkehf
     2581 yvidgftmta treirdietl ppnmhepiip rgarqgpsql krtcsifaye dikevhkrry
     2641 llqpiavevf sgdgrnylla fqkgirnkvy qrflavvpsl tdssesvsgq rpntsveqgs
     2701 gllstlvgek svtqrwerge isnfqylmhl ntlagrsynd lmqypvfpwi ladydseevd
     2761 ltnpktfrnl akpmgaqtde rlaqykkryk dwedpngetp ayhygthyss amivasylvr
     2821 mepftqiflr lqgghfdlad rmfhsvreaw ysaskhnmad vkelipeffy lpeflfnsnn
     2881 fdlgckqngt klgdvilppw akgdprefir vhrealecdy vsahlhewid lifgykqqgp
     2941 aaveavnvfh hlfyegqvdi ynindplket atigfinnfg qipkqlfkkp hppkrvrsrl
     3001 ngdnagisvl pgstsdkiff hhldnlrpsl tpvkelkepv gqivctdkgi laveqnkvli
     3061 pptwnktfaw gyadlscrlg tyesdkamtv yeclsewgqi lcaicpnpkl vitggtstvv
     3121 cvwemgtske kaktvtlkqa llghtdtvtc ataslayhii vsgsrdrtci iwdlnklsfl
     3181 tqlrghrapv salcineltg divscagtyi hvwsingnpi vsvntftgrs qqiicccmse
     3241 mnewdtqnvi vtghsdgvvr fwrmeflqvp etpapepaev lemqedcpea qigqeaqded
     3301 ssdseadeqs isqdpkdtps qpsstshrpr aascrataaw ctdsgsddsr rwsdqlslde
     3361 kdgfifvnys egqtrahlqg plshphpnpi evrnysrlkp gyrwerqlvf rskltmhtaf
     3421 drkdnahpae vtalgiskdh srilvgdsrg rvfswsvsdq pgrsaadhwv kdeggdscsg
     3481 csvrfslter rhhcrncgql fcqkcsrfqs eikrlkissp vrvcqncyyn lqhergsedg
     3541 prnc
//
LOCUS       XP_047306065             657 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM200B isoform X1 [Homo sapiens].
ACCESSION   XP_047306065
VERSION     XP_047306065.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047450109.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..657
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..657
                     /product="protein FAM200B isoform X1"
                     /calculated_mol_wt=75903
     Region          <184..304
                     /region_name="DUF4371"
                     /note="Domain of unknown function (DUF4371); pfam14291"
                     /db_xref="CDD:405048"
     CDS             1..657
                     /gene="FAM200B"
                     /gene_synonym="C4orf53"
                     /coded_by="XM_047450109.1:416..2389"
                     /db_xref="GeneID:285550"
                     /db_xref="HGNC:HGNC:27740"
ORIGIN      
        1 mdhffikrkr nsevkyteac ssssvesgiv nsdniekntd snlqtstsfe phfkkkkvsa
       61 rrynedylky gfikcekpfe ndrpqcvicn nilaneslkp sklkrhletq haelidkple
      121 yfqrkkkdik lstqflscst avsekallss ylvayrvake kiantaaeki ilpacldmvr
      181 tifddksadk lktipndntv slrictiaeh letmlitrlq sgidfaiqld estdigsctt
      241 llvyvryawq ddfledflcf lnltshlsgl diftelerri vgqyklnwkn ckgitsdgta
      301 tmtgkhsrvi kkllevtnng avwnhcfihr eglasreipq nlmevlknav kvvnfikgss
      361 lnsrlletfc seigtnhthl lyhtkirwls qgkilsrvye lrneihffli ekkshlasif
      421 eddtwvtkla yltdifsiln elslklqgkn sdvfqhveri qgfrktlllw qvrlksnrps
      481 yymfprflqh ieeniineni lkeikleill hltslsqtfn hffpeekfet lrenswvkdp
      541 fafrhpesii elnlvpeeen ellqlsssyt lkndyetlsl safwmkvked fpllsrksvl
      601 lllpftttsl celgfsiltq lktkerngln caavmrvals scvpdwnelm nrqahps
//
LOCUS       XP_005265921             257 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 346 isoform X11 [Homo sapiens].
ACCESSION   XP_005265921
VERSION     XP_005265921.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005265864.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..257
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..257
                     /product="zinc finger protein 346 isoform X11"
                     /calculated_mol_wt=28460
     Region          96..129
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     Region          100..122
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Region          160..189
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     Region          161..183
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Site            order(168..170,172..173,177,182,209,212..216,218..219)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275371"
     Region          204..226
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     CDS             1..257
                     /gene="ZNF346"
                     /gene_synonym="JAZ; Zfp346"
                     /coded_by="XM_005265864.4:44..817"
                     /db_xref="GeneID:23567"
                     /db_xref="HGNC:HGNC:16403"
                     /db_xref="MIM:605308"
ORIGIN      
        1 meypapatvq aadggaagpy sssellegqe pdgvrfdrer arrlweavsg aqpvgreeaq
       61 ffphsrtvip ilvlsetysl chpvehmiqk nqclftntqc kvccallise sqklahyqsk
      121 khankvkryl aihgmetlkg etkkldsdqk ssrskdknqc cpicnmtfss pvvaqshylg
      181 kthaknlklk qqstkveagk gypcktckiv lnsieqyqah vsgfkhknqs pktvasslgq
      241 ipmqrqpiqk dsttled
//
LOCUS       XP_047273323             597 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 72 kDa isoform X2 [Homo sapiens].
ACCESSION   XP_047273323
VERSION     XP_047273323.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417367.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..597
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..597
                     /product="centrosomal protein of 72 kDa isoform X2"
                     /calculated_mol_wt=66213
     Region          <6..95
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          6..27
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          28..49
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          50..80
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          <394..>540
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..597
                     /gene="CEP72"
                     /coded_by="XM_047417367.1:90..1883"
                     /db_xref="GeneID:55722"
                     /db_xref="HGNC:HGNC:25547"
                     /db_xref="MIM:616475"
ORIGIN      
        1 msltglksld lsrnslvsle giqyltales lnlyynciss laevfrlhal telvdvdfrl
       61 npvvkvepdy rlfvvhllpk lqqlddrpvr aserkasrlh fasedsldsk esvpaslkeg
      121 rphhprakct ealakqslvm daddeavlnl iaecewdlgr ppgstsfsqk greadsrgsq
      181 esrhllspql vqyqcgdsgk qgretrrssc rgcclekmpw sqlcgelppl ygaepeasra
      241 prphtyftph pdsmdtedsa ssqkldlsge mvpgplpapg kcrkrrmpvg rfqtfsdqeg
      301 lgcperthgs svpkeslsrq dssesrngrt lsqpeasete eqrsrgvtdt repspgshsa
      361 lpgkktalqa alletlldlv drswggcrsl hsneaflaqa rhilssveef taaqdssamv
      421 gedvgslale skslqsrlae qqqqharems evtaelhhth kelddlrqhl dksleensrl
      481 kslllsmkke vksadtaatl nlqiaglqts vkrlcgeive lkqhlehydk iqeltqmlqe
      541 shsslvstne hllqelsqvr aqhraeveqm hwsyqelkkt malfphssas hggcqac
//
LOCUS       XP_047298589            1358 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger MYM-type protein 3 isoform X2 [Homo sapiens].
ACCESSION   XP_047298589
VERSION     XP_047298589.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442633.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1358
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1358
                     /product="zinc finger MYM-type protein 3 isoform X2"
                     /calculated_mol_wt=150953
     Region          2..>305
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          311..347
                     /region_name="TRASH"
                     /note="metallochaperone-like domain; smart00746"
                     /db_xref="CDD:214799"
     Region          348..389
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          404..440
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          446..488
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          493..532
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          541..578
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          586..623
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          628..664
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          674..710
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          715..751
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          1173..1341
                     /region_name="DUF3504"
                     /note="Domain of unknown function (DUF3504); pfam12012"
                     /db_xref="CDD:432262"
     CDS             1..1358
                     /gene="ZMYM3"
                     /gene_synonym="DXS6673E; MYM; XFIM; ZNF198L2; ZNF261"
                     /coded_by="XM_047442633.1:652..4728"
                     /db_xref="GeneID:9203"
                     /db_xref="HGNC:HGNC:13054"
                     /db_xref="MIM:300061"
ORIGIN      
        1 mdpsdfpspf dpltlpekpl agdlpvdmef gedllesqta ptrgwappgp spssgaldll
       61 dtpaglekdp gvldgatell glggllykap sppevdhgpe gtlawdagdq tlepgpggqt
      121 pevvppdpga ganscspegl leplapdspi tlqsphieee ettsiatarr gspgqeeelp
      181 qgqpqspnap pspsvgetlg dginssqtkp ggssppahps lpgdgltaka sekpperkrs
      241 ervrraeppk pevvdstesi pvsdedsdam vddpndedfv pfrprrsprm slrssvsqra
      301 grsavgtkmt cahcrtplqk gqtayqrkgl pqlfcssscl ttfskkpsgk ktctfckkei
      361 wntkdsvvaq tgsggsfhef ctsvclslye aqqqrpipqs gdpadatrcs icqktgevlh
      421 evsngsvvhr lcsdscfskf rankglktnc cdqcgayiyt ktgspgpell fhegqqkrfc
      481 nttclgaykk kntrvypcvw cktlcknfem lshvdrngkt slfcslcctt sykvkqaglt
      541 gpprpcsfcr rslsdpcyyn kvdrtvyqfc spscwtkfqr tspeggihls chychslfsg
      601 kpevldwqdq vfqfccrdcc edfkrlrgvv sqcehcrqek llheklrfsg veksfcsegc
      661 vllykqdftk klglccitct ycsqtcqrgv teqldgstwd fcsedcksky llwyckaarc
      721 hackrqgkll etihwrgqir hfcnqqcllr fysqqnqpnl dtqsgpesll nsqspeskpq
      781 tpsqtkvens ntipvktrsa ptaptppppp ppatprknka amckplmqnr gvsckvemks
      841 kgsqteewkp qvivlpipvp ifvpvpmhly cqkvpvpfsm pipvpvpmfl pttlestdki
      901 vetieelkvk ipsnpleadi lamaemiaea eeldkassdl cdlvsnqsae glledcdlfg
      961 parddvlama vkmanvldep gqdleadfpk npldinpsvd flfdcglvgp edvsteqdlp
     1021 rtmrkgqkrl vlsescsrds mssqpsctgl nysygvnawk cwvqskyang etskgdelrf
     1081 gpkpmriked ilacsaaeln yglaqfvrei trpngeryep dsiyylclgi qqyllennrm
     1141 vniftdlyyl tfvqelnksl stwqptllpn ntvfsrveee hlweckqlgv yspfvllntl
     1201 mffntkffgl qtaeehmqls ftnvvrqsrk cttprgttkv vsiryyapvr qrkgrdtgpg
     1261 krkredeapi leqrenrmnp lrcpvkfyef ylskcpeslr trndvfylqp ersciaespl
     1321 wysvipmdrs mlesmlnril avreiyeelg rpgeedld
//
LOCUS       XP_054185539             192 aa            linear   PRI 20-MAR-2023
DEFINITION  mitochondrial inner membrane protease ATP23 homolog isoform X1
            [Homo sapiens].
ACCESSION   XP_054185539
VERSION     XP_054185539.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329564.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003315939.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..192
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.1"
     Protein         1..192
                     /product="mitochondrial inner membrane protease ATP23
                     homolog isoform X1"
                     /calculated_mol_wt=22120
     CDS             1..192
                     /gene="ATP23"
                     /gene_synonym="KUB3; XRCC6BP1"
                     /coded_by="XM_054329564.1:36..614"
                     /db_xref="GeneID:91419"
                     /db_xref="HGNC:HGNC:29452"
                     /db_xref="MIM:619760"
ORIGIN      
        1 mfygiisief elewilctts lfysavnkdr hfscedcngn vsggfdasts qivlcqnnih
       61 nqahmnrvvt helihafdhc rahvdwftni rhlacsevra anlsgdcslv neifrlhfgl
      121 kqhhqtcvrd ratlsilavr niskevakka vdevfescfn dhepfgriph nktyaryahr
      181 dfenrdryys ni
//
LOCUS       XP_054185086             347 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear distribution protein nudE homolog 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054185086
VERSION     XP_054185086.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329111.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187607.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..347
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.12-12.3"
     Protein         1..347
                     /product="nuclear distribution protein nudE homolog 1
                     isoform X1"
                     /calculated_mol_wt=38642
     CDS             1..347
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /coded_by="XM_054329111.1:79..1122"
                     /db_xref="GeneID:54820"
                     /db_xref="HGNC:HGNC:17619"
                     /db_xref="MIM:609449"
ORIGIN      
        1 medsgktfss eeeeanywkd lamtykqrae ntqeelrefq egsreyeael etqlqqietr
       61 nrdllsennr lrmeletike kfevqhsegy rqisaleddl aqtkaikdql qkyireleqa
      121 nddlerakra timsledfeq rlnqaierna fleseldeke nllesvqrlk deardlrqel
      181 avqqkqekpr tpmpssveae rtdtavqatg svpstpiahr gpssslntpg sfrrglddst
      241 ggtpltpaar isalnivgdl lrkvgalesk lascrnlvyd qspnrtggpa sgrssknrdg
      301 gerrpsstsv plgdkgsvps nkplaggenp papgkrhspp ahshvsf
//
LOCUS       XP_054186818             496 aa            linear   PRI 20-MAR-2023
DEFINITION  ral guanine nucleotide dissociation stimulator-like 2 isoform X14
            [Homo sapiens].
ACCESSION   XP_054186818
VERSION     XP_054186818.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330843.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167247.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..496
                     /product="ral guanine nucleotide dissociation
                     stimulator-like 2 isoform X14"
                     /calculated_mol_wt=54005
     CDS             1..496
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /coded_by="XM_054330843.1:221..1711"
                     /db_xref="GeneID:5863"
                     /db_xref="HGNC:HGNC:9769"
                     /db_xref="MIM:602306"
ORIGIN      
        1 mppprssrrl ragtlealvr hlldtrtsgt dvsfmsafla thraftstpa llglmadrle
       61 aleshptdel erttevaisv lstwlashpe dfgseakgql drlesfllqt gyaagkgvgg
      121 gsadlirnlr srvdpqapdl pkplalpgdp padptdvlvf ladhlaeqlt lldaelflnl
      181 ipsqclgglw ghrdrpghsh lcpsvratvt qfnkvagavv ssvlgatstg egpgevtirp
      241 lrppqrarll ekwirvaeec rllrnfssvy avvsalqssp ihrlraawge atrdslrvfs
      301 slcqifseed nysqsrellv qevklqsple phskkaprsg srgggvvpyl gtflkdlvml
      361 daaskdelen gyinfdkrrk efavlselrr lqnecrgynl qpdhdiqrwl qglrplteaq
      421 shrvscevep pgssdppapr vlrptlvisq wtevlgsvgv ptplvscdrp stggdeaptt
      481 paplltrlaq shvvcs
//
LOCUS       XP_054191714             533 aa            linear   PRI 20-MAR-2023
DEFINITION  importin subunit alpha-7 isoform X2 [Homo sapiens].
ACCESSION   XP_054191714
VERSION     XP_054191714.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335739.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..533
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..533
                     /product="importin subunit alpha-7 isoform X2"
                     /calculated_mol_wt=59537
     CDS             1..533
                     /gene="KPNA6"
                     /gene_synonym="IPOA7"
                     /coded_by="XM_054335739.1:30..1631"
                     /db_xref="GeneID:23633"
                     /db_xref="HGNC:HGNC:6399"
                     /db_xref="MIM:610563"
ORIGIN      
        1 maspgkdnyr mksyknnaln peemrrrree egiqlrkqkr eqqlfkrrnv elineeaamf
       61 dsllmdsyvs sttgesvitr emvemlfsdd sdlqlattqk frkllskeps ppidevintp
      121 rvvdrfvefl krnenctlqf eaawaltnia sgtsqqtkiv ieagavpifi ellnsdfedv
      181 qeqavwalgn iagdssvcrd yvlncsilnp lltlltkstr ltmtrnavwa lsnlcrgknp
      241 ppefakvspc lpvlsrllfs sdsdlladac walsylsdgp nekiqavids gvcrrlvell
      301 mhndykvasp alravgnivt gddiqtqvil ncsalpcllh llsspkesir keacwtisni
      361 tagnraqiqa vidanifpvl ieilqkaefr trkeaawait natsggtpeq irylvslgci
      421 kplcdlltvm dskivqvaln glenilrlge qegkrsgsgv npycglieea ygldkieflq
      481 shenqeiyqk afdliehyfg vedddsslap qvdetqqqfi fqqpeapmeg fql
//
LOCUS       XP_054195732            1945 aa            linear   PRI 20-MAR-2023
DEFINITION  rootletin isoform X4 [Homo sapiens].
ACCESSION   XP_054195732
VERSION     XP_054195732.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339757.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1945
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1945
                     /product="rootletin isoform X4"
                     /calculated_mol_wt=220654
     CDS             1..1945
                     /gene="CROCC"
                     /gene_synonym="CROCC1; ROLT; TAX1BP2"
                     /coded_by="XM_054339757.1:201..6038"
                     /db_xref="GeneID:9696"
                     /db_xref="HGNC:HGNC:21299"
                     /db_xref="MIM:615776"
ORIGIN      
        1 masllslqee nqllqqelsr vedllaqsra erdelaikyn avserleqal rlepgeletq
       61 eprglvrqsv elrrqlqeeq asyrrklqay qegqqrqaql vqrlqgkilq ykkrcseleq
      121 qllersgele qqrlrdtehs qdlesalirl eeeqqrsasl aqvnamlreq ldqagsanqa
      181 lsedirkvtn dwtrcrkele hreaawrree esfnayfsne hsrllllwrq vvgfrrlvse
      241 vkmfterdll qlggelarts ravqeaglgl stglrlaesr aeaalekqal lqaqleeqlr
      301 dkvlrekdla qqqmqsdldk adlsarvtel glavkrlekq nlekdqvnkd ltekleales
      361 lrlqeqaale tedgeglqqt lrdlaqavls dsesgvqlsg sertadasng slrglsgqrt
      421 pspprrsspg rgrsprrgps pacsdsstla lihsalhkrq lqvqdmrgry easqdllgtl
      481 rkqlsdsese rraleeqlqr lrdktdgamq ahedaqrevq rlrsanells reksnlahsl
      541 qvaqqqaeel rqereklqaa qeelrrqrdr leeeqedavq dgarvrrele rshrqleqle
      601 gkrsvlakel vevrealsra tlqrdmlqae kaevaealtk aeagrvelel smtklraeea
      661 slqdslskls alneslaqdk ldlnrlvaql eeeksalqgr qrqaeqeatv areeqerlee
      721 lrleqevarq glegslrvae qaqealeqql ptlrhersql qeqlaqlsrq lsgreqeleq
      781 arreaqrqve aleraareke alakehagla vqlvaaereg rtlseeatrl rlekealegs
      841 lfevqrqlaq learreqlea egqalllake tltgelaglr qqiiatqeka sldkelmaqk
      901 lvqaereaqa slreqraahe edlqrlqrek eaawreleae raqlqsqlqr eqeellarle
      961 aekeelseei aalqqerdeg lllaesekqq alslkesekt alseklmgtr hslatislem
     1021 erqkrdaqsr qeqdrstvna ltselrdlra qreeaaaaha qevrrlqeqa rdlgkqrdsc
     1081 lreaeelrtq lrlledardg lrrelleaqr klresqegre vqrqeagelr rslgegaker
     1141 ealrrsneel rsavkkaese rislklaned keqklallee artavgkeag elrtglqeve
     1201 rsrlearrel qelrrqmkml dsentrlgre laelqgrlal geraekesrr etlglrqrll
     1261 kgeaslevmr qelqvaqrkl qeqegefrtr errllgslee argtekqqld harglelkle
     1321 aaraeaaelg lrlsaaegra qgleaelarv evqrraaeaq lgglrsalrr glglgrapsp
     1381 aprpvpgspa rdapaegsge glnspstlec spgsqppspg patspaspdl dpeavrgalr
     1441 eflqelrsaq rerdelrtqt salnrqlaem eaerdsatsr arqlqkavae seearrsvdg
     1501 rlsgvqaela lqeesvrrse rerratldqv atlerslqat eselrasqek iskmkanetk
     1561 legdkrrlke vldasesrtv klelqrrsle gelqrsrlgl sdreaqaqal qdrvdslqrq
     1621 vadsevkagt lqltverlng alakveeseg alrdkvrglt ealaqssasl nstrdknlhl
     1681 qkaltacehd rqvlqerlda arqalseark qssslgeqvq tlrgevadle lqrveaegql
     1741 qqlrevlrqr qegeaaalnt vqklqderrl lqerlgslqr alaqleaekr eversalrle
     1801 kdrvalrrtl dkvereklrs hedtvrlsae kgrldrtltg aelelaeaqr qiqqleaqvv
     1861 vleqshspaq levdaqqqql elqqeverlr saqaqtertl earerahrqr vrgleeqvst
     1921 lkgqlqqelr rssapfspps gppek
//
LOCUS       XP_054225176             895 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptotagmin-like protein 2 isoform X11 [Homo sapiens].
ACCESSION   XP_054225176
VERSION     XP_054225176.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369201.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..895
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..895
                     /product="synaptotagmin-like protein 2 isoform X11"
                     /calculated_mol_wt=100693
     CDS             1..895
                     /gene="SYTL2"
                     /gene_synonym="CHR11SYT; EXO4; PPP1R151; SGA72M; SLP2;
                     SLP2A"
                     /coded_by="XM_054369201.1:578..3265"
                     /db_xref="GeneID:54843"
                     /db_xref="HGNC:HGNC:15585"
                     /db_xref="MIM:612880"
ORIGIN      
        1 midlsfltee eqeaimkvlq rdaalkraee ervrhlpeki kddqqlknms gqwfyeakak
       61 rhrdkihgad iirasmrkkr pqiaaeqskd rengakeswv nnvnkdaflp pelagvveep
      121 eedaapasps ssvvnpassv idmsqentrk pnvspekqrk npfnssklpe ghssqqtkne
      181 qskngrtglf qtskedelse skekstvadt siqklekskq tlpglsngsq ikapipkark
      241 miykstdlnk ddnqsfprqr tdslkargap rgilkrnsss sstdsetlry nhnfepkski
      301 vspgltiher isekehsled nsspnslepl khvrfsavkd elpqspglih grevgefsvl
      361 esdrlkngme dagdteefqs dpkpsqyrkp slfhqstssp yvsksethqp mtsgsfping
      421 lhshsevlta rpqsmenspt inepkdksse ltrlesvlpr spadelshcv epepsqvpgg
      481 ssrdrqqgse eepspvlktl ersaarkmps ksledissds snqakvdnqp eelvrsaedv
      541 stvptqpdnp fshpdklkrm sksvpaflqd evsgsvmsvy sgdfgnlevk gniqfaieyv
      601 eslkelhvfv aqckdlaaad vkkqrsdpyv kayllpdkgk mgkkktlvvk ktlnpvynei
      661 lrykiekqil ktqklnlsiw hrdtfkrnsf lgeveldlet wdwdnkqnkq lrwyplkrkt
      721 apvaleaenr gemklalqyv pepvpgkklp ttgevhiwvk ecldlpllrg shlnsfvkct
      781 ilpdtsrksr qktravgktt npifnhtmvy dgfrpedlme acveltvwdh ykltnqflgg
      841 lrigfgtgks ygtevdwmds tseevalwek mvnspntwie atlplrmlli akisk
//
LOCUS       XP_054225730             634 aa            linear   PRI 20-MAR-2023
DEFINITION  signal recognition particle receptor subunit alpha isoform X2 [Homo
            sapiens].
ACCESSION   XP_054225730
VERSION     XP_054225730.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369755.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..634
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..634
                     /product="signal recognition particle receptor subunit
                     alpha isoform X2"
                     /calculated_mol_wt=69688
     CDS             1..634
                     /gene="SRPRA"
                     /gene_synonym="DP; Sralpha; SRPR"
                     /coded_by="XM_054369755.1:92..1996"
                     /db_xref="GeneID:6734"
                     /db_xref="HGNC:HGNC:11307"
                     /db_xref="MIM:182180"
ORIGIN      
        1 mldfftifsk gglvlwcfqg vsdsctgpvn alirsvllqe rggnnsfthe altlkykldn
       61 qfelvfvvgf qkiltltyvd kliddvhrlf rdkyrteiqq qsalsllngt fdfqndflrl
      121 lreaeesski rapttmkkfe dsekakkpvr smietrgekp kekaknskkk gakkegsdgp
      181 latskpvpae ksglpvgpen gvelskeeli rrkreefiqk hgrgmeksnk stksdapkek
      241 gkkaprvwel ggcankevld ystpttngtp eaalsedinl irgtgsggql qdldcsssdd
      301 egaaqnstkp satkgtlggm fgmlkglvgs kslsredmes vldkmrdhli aknvaadiav
      361 qlcesvankl egkvmgtfst vtstvkqalq eslvqilqpq rrvdmlrdim daqrrqrpyv
      421 vtfcgvngvg kstnlakisf wllengfsvl iaacdtfrag aveqlrthtr rlsalhppek
      481 hggrtmvqlf ekgygkdaag iameaiafar nqgfdvvlvd tagrmqdnap lmtalaklit
      541 vntpdlvlfv gealvgneav dqlvkfnral adhsmaqtpr lidgivltkf dtiddkvnvr
      601 leagmgvlhk gaeaarkswl qrflflrgfk mhlt
//
LOCUS       XP_054226823            2084 aa            linear   PRI 20-MAR-2023
DEFINITION  citron Rho-interacting kinase isoform X1 [Homo sapiens].
ACCESSION   XP_054226823
VERSION     XP_054226823.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370848.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2084
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2084
                     /product="citron Rho-interacting kinase isoform X1"
                     /calculated_mol_wt=238209
     CDS             1..2084
                     /gene="CIT"
                     /gene_synonym="CITK; CRIK; MCPH17; STK21"
                     /coded_by="XM_054370848.1:86..6340"
                     /db_xref="GeneID:11113"
                     /db_xref="HGNC:HGNC:1985"
                     /db_xref="MIM:605629"
ORIGIN      
        1 mlkfkygarn pldagaaepi asrasrlnlf fqgkppfmtq qqmsplsreg ildalfvlfe
       61 ecsqpalmki khvsnfvrky sdtiaelqel qpsakdfevr slvgcghfae vqvvrekatg
      121 diyamkvmkk kallaqeqvs ffeeernils rstspwipql qyafqdknhl ylvmeyqpgg
      181 dllsllnrye dqldenliqf ylaelilavh svhlmgyvhr dikpenilvd rtghiklvdf
      241 gsaakmnsnk mvnaklpigt pdymapevlt vmngdgkgty gldcdwwsvg viayemiygr
      301 spfaegtsar tfnnimnfqr flkfpddpkv ssdfldliqs llcgqkerlk feglcchpff
      361 skidwnnirn spppfvptlk sdddtsnfde peknswvsss pcqlspsgfs geelpfvgfs
      421 yskalgilgr sesvvsglds paktssmekk llikskelqd sqdkchkmeq emtrlhrrvs
      481 eveavlsqke velkasetqr slleqdlaty itecsslkrs leqarmevsq eddkalqllh
      541 direqsrklq eikeqeyqaq veemrlmmnq leedlvsarr rsdlyeselr esrlaaeefk
      601 rkatecqhkl lkakdqgkpe vgeyakleki naeqqlkiqe lqeklekavk asteatellq
      661 nirqakerae releklqnre dssegirkkl veaeerrhsl enkvkrletm errenrlkdd
      721 iqtksqqiqq madkilelee khreaqvsaq hlevhlkqke qhyeekikvl dnqikkdlad
      781 ketlenmmqr heeeahekgk ilseqkamin amdskirsle qrivelsean klaansslft
      841 qrnmkaqeem iselrqqkfy letqagklea qnrkleeqle kishqdhsdk nrlleletrl
      901 revsleheeq klelkrqlte lqlslqeres qltalqaara alesqlrqak teleettaea
      961 eeeiqaltah rdeiqrkfda lrnsctvitd leeqlnqlte dnaelnnqnf ylskqldeas
     1021 gandeivqlr sevdhlrrei teremqltsq kqtmealktt ctmleeqvmd lealndelle
     1081 kerqweawrs vlgdeksqfe crvrelqrml dtekqsrara dqritesrqv velavkehka
     1141 eilalqqalk eqklkaesls dklndlekkh amlemnarsl qqkleterel kqrlleeqak
     1201 lqqqmdlqkn hifrltqglq ealdradllk tersdleyql eniqvlyshe kvkmegtisq
     1261 qtklidflqa kmdqpakkkk glfsrrkedp alptqvplqy nelklaleke karcaeleea
     1321 lqktrielrs areeaahrka tdhphpstpa tarqqiamsa ivrspehqps amsllappss
     1381 rrkesstpee fsrrlkermh hniphrfnvg lnmratkcav cldtvhfgrq askclecqvm
     1441 chpkcstclp atcglpaeya thfteafcrd kmnspglqtk epssslhleg wmkvprnnkr
     1501 gqqgwdrkyi vlegskvliy dneareagqr pveefelclp dgdvsihgav gaselantak
     1561 advpyilkme shphttcwpg rtlyllapsf pdkqrwvtal esvvaggrvs rekaeadaar
     1621 dcvsyellpa wvqkllgnsl lklegddrld mnctlpfsdq vvlvgteegl yalnvlknsl
     1681 thvpgigavf qiyiikdlek llmiageera lclvdvkkvk qslaqshlpa qpdispnife
     1741 avkgchlfga gkienglcic aampskvvil rynenlskyc irkeietsep cscihftnys
     1801 iligtnkfye idmkqytlee fldkndhsla pavfaassns fpvsivqvns agqreeyllc
     1861 fhefgvfvds ygrrsrtddl kwsrlplafa yrepylfvth fnslevieiq arssagtpar
     1921 ayldipnpry lgpaissgai ylassyqdkl rvicckgnlv kesgtehhrg pstsrsspnk
     1981 rgpptynehi tkrvasspap pegpshprep stphryregr telrrdkspg rplerekspg
     2041 rmlstrrers pgrlfedssr grlpagavrt plsqvnkvwd qssv
//
LOCUS       XP_054227684             651 aa            linear   PRI 20-MAR-2023
DEFINITION  non-homologous end joining factor IFFO1 isoform X3 [Homo sapiens].
ACCESSION   XP_054227684
VERSION     XP_054227684.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371709.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..651
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..651
                     /product="non-homologous end joining factor IFFO1 isoform
                     X3"
                     /calculated_mol_wt=71937
     CDS             1..651
                     /gene="IFFO1"
                     /gene_synonym="HOM-TES-103; IFFO"
                     /coded_by="XM_054371709.1:14..1969"
                     /db_xref="GeneID:25900"
                     /db_xref="HGNC:HGNC:24970"
                     /db_xref="MIM:610495"
ORIGIN      
        1 mnplfgpnlf llqqeqqgla gplgdslggd hfagggdlpp aplspagpaa ysppgpgpap
       61 paamalrndl gsninvlktl nlrfrcflak vhelerrnrl lekqlqqale egkqgrrglg
      121 rrdqavqtgf vspirplglq lgarpaavcs psarvlgspa rspagplaps aaslssssts
      181 tsttysssar fmpgtiwsfs harrlgpgle ptlvqgpgls wvhpdgvgvq idtitpeira
      241 lynvlakvkr erdeykrrwe eeytvriqlq drvnelqeea qeadacqeel alkveqlkae
      301 lvvfkglmsn nlseldtkiq ekamkvdmdi crriditakl cdvaqqrnce dmiqmfqkkl
      361 vpsmggrkre rkaaveedts lsesegprqp dgdeeestal sineemqrml nqlreydfed
      421 dcdsltweet eetlllwedf sgyamaaaea qgevtsapgl ralwlclssl kptppllsll
      481 cppmwlssst cvsplplsfc fsfssffnqt sslslsltwp fgmrpipsll gwppplpfll
      541 qqqedslekv ikdteslfkt rekeyqetid qielelatak ndmnrhlhey memcsmkrgl
      601 dvqmetcrrl itqsgdrksp aftavplsdp ppppseaeds drdvssdssm r
//
LOCUS       XP_054227784             597 aa            linear   PRI 20-MAR-2023
DEFINITION  probable C-mannosyltransferase DPY19L2 isoform X7 [Homo sapiens].
ACCESSION   XP_054227784
VERSION     XP_054227784.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371809.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..597
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..597
                     /product="probable C-mannosyltransferase DPY19L2 isoform
                     X7"
                     /calculated_mol_wt=68593
     CDS             1..597
                     /gene="DPY19L2"
                     /gene_synonym="SPATA34; SPGF9"
                     /coded_by="XM_054371809.1:101..1894"
                     /db_xref="GeneID:283417"
                     /db_xref="HGNC:HGNC:19414"
                     /db_xref="MIM:613893"
ORIGIN      
        1 mrkqgvsskr lqssgrsqsk grrgaslare peveeemeks algggklprg swrsspgriq
       61 slkerkglel evvaktfllg pfqfvrnsla qlrekvqelq arrfssrttl giavfvailh
      121 wlhlvtlfen drhfshlssl eremtfrtem glyysyfkti ieapsflegl wmimndrlte
      181 ypliinaikr fhlypeviia swyctfmgim nlfgletktc wnvtriepln evqsceglgd
      241 pacfyvgvif ilnglmmglf fmygaylsgt qlgglitvlc fffnhgeatr vmwtpplres
      301 fsypflvlqm ciltlilrts sndrrpfial clsnvafmlp wqfaqfilft qiaslfpmyv
      361 vgyiepskfq kiiymnmisv tlsfilmfgn smylssyyss sllmtwaiil krneiqklgv
      421 sklnfwliqg sawwcgtiil kfltskilgv sdhirlsdli aarilrytdf dtliytcape
      481 fdfmekatpl rytktlllpv vmvitcfifk ktvrdisyvl atniylrkql lehselafht
      541 lqllvftala ilimrlkmfl tphmcvmasl icsrqmlslq vpclqwqass clhfipl
//
LOCUS       XP_054228691             558 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein phosphatase non-receptor type 6 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054228691
VERSION     XP_054228691.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372716.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..558
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..558
                     /product="tyrosine-protein phosphatase non-receptor type 6
                     isoform X3"
                     /calculated_mol_wt=63314
     CDS             1..558
                     /gene="PTPN6"
                     /gene_synonym="HCP; HCPH; HPTP1C; PTP-1C; SH-PTP1; SHP-1;
                     SHP-1L; SHP1"
                     /coded_by="XM_054372716.1:150..1826"
                     /db_xref="GeneID:5777"
                     /db_xref="HGNC:HGNC:9658"
                     /db_xref="MIM:176883"
ORIGIN      
        1 mlsrgwfhrd lsgldaetll kgrgvhgsfl arpsrknqgd fslsvrvgdq vthiriqnsg
       61 dfydlyggek fatltelvey ytqqqgvlqd rdgtiihlky plncsdptse rwyhghmsgg
      121 qaetllqakg epwtflvres lsqpgdfvls vlsdqpkagp gsplrvthik vmcepyyatr
      181 vnaadienrv lelnkkqese dtakagfwee feslqkqevk nlhqrlegqr penkgknryk
      241 nilpfdhsrv ilqgrdsnip gsdyinanyi knqllgpden aktyiasqgc leatvndfwq
      301 mawqensrvi vmttrevekg rnkcvpywpe vgmqraygpy svtncgehdt teyklrtlqv
      361 spldngdlir eiwhyqylsw pdhgvpsepg gvlsfldqin qrqeslphag piivhcsagi
      421 grtgtiivid mlmenistkg ldcdidiqkt iqmvraqrsg mvqteaqykf iyvaiaqfie
      481 ttkkklevlq sqkgqeseyg nityppamkn ahakasrtss khkedvyenl htknkreekv
      541 kkqrsadkek skgslkrk
//
LOCUS       XP_054232245             382 aa            linear   PRI 20-MAR-2023
DEFINITION  protein phosphatase 1A isoform X3 [Homo sapiens].
ACCESSION   XP_054232245
VERSION     XP_054232245.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376270.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..382
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..382
                     /product="protein phosphatase 1A isoform X3"
                     /calculated_mol_wt=42317
     CDS             1..382
                     /gene="PPM1A"
                     /gene_synonym="PP2C-ALPHA; PP2CA; PP2Calpha"
                     /coded_by="XM_054376270.1:791..1939"
                     /db_xref="GeneID:5494"
                     /db_xref="HGNC:HGNC:9275"
                     /db_xref="MIM:606108"
ORIGIN      
        1 mgafldkpkm ekhnaqgqgn glryglssmq gwrvemedah taviglpsgl eswsffavyd
       61 ghagsqvaky ccehlldhit nnqdfkgsag apsvenvkng irtgfleide hmrvmsekkh
      121 gadrsgstav gvlispqhty fincgdsrgl lcrnrkvhff tqdhkpsnpl ekeriqnagg
      181 svmiqrvngs lavsralgdf dykcvhgkgp teqlvspepe vhdierseed dqfiilacdg
      241 iwdvmgneel cdfvrsrlev tddlekvcne vvdtclykgs rdnmsvilic fpnapkvspe
      301 avkkeaeldk ylecrveeii kkqgegvpdl vhvmrtlase nipslppgge laskrnviea
      361 vynrlnpykn ddtdststdd mw
//
LOCUS       XP_054234482            1396 aa            linear   PRI 20-MAR-2023
DEFINITION  cell migration-inducing and hyaluronan-binding protein isoform X1
            [Homo sapiens].
ACCESSION   XP_054234482
VERSION     XP_054234482.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378507.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1396
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1396
                     /product="cell migration-inducing and hyaluronan-binding
                     protein isoform X1"
                     /calculated_mol_wt=156812
     CDS             1..1396
                     /gene="CEMIP"
                     /gene_synonym="CCSP1; HYBID; KIAA1199; TMEM2L"
                     /coded_by="XM_054378507.1:6289..10479"
                     /db_xref="GeneID:57214"
                     /db_xref="HGNC:HGNC:29213"
                     /db_xref="MIM:608366"
ORIGIN      
        1 mwlclspcrp cilipacqgc msdsvcfsfr ehtarmgaag rqdflfkaml tiswltltcf
       61 pgatstvaag cpdqspelqp wnpghdqdhh vhigqgktll ltssatvysi hiseggklvi
      121 kdhdepivlr trhilidngg elhagsalcp fqgnftiily gradegiqpd pyyglkyigv
      181 gkggalelhg qkklswtfln ktlhpggmae ggyfferswg hrgvivhvid pksgtvihsd
      241 rfdtyrskke serlvqylna vpdgrilsva vndegsrnld dmarkamtkl gskhflhlgf
      301 rhpwsfltvk gnpsssvedh ieyhghrgsa aarvfklfqt ehgeyfnvsl ssewvqdvew
      361 tewfdhdkvs qtkggekisd lwkahpgkic nrpidiqatt mdgvnlstev vykkgqdyrf
      421 acydrgracr syrvrflcgk pvrpkltvti dtnvnstiln lednvqswkp gdtlviastd
      481 ysmyqaeefq vlpcrscapn qvkvagkpmy lhigeeidgv dmraevglls rniivmgeme
      541 dkcypyrnhi cnffdfdtfg ghikfalgfk aahlegtelk hmgqqlvgqy pihfhlagdv
      601 derggydppt yirdlsihht fsrcvtvhgs ngllikdvvg ynslghcfft edgpeerntf
      661 dhclgllvks gtllpsdrds kmckmiteds ypgyipkprq dcnavstfwm anpnnnlinc
      721 aaagseetgf wfifhhvptg psvgmyspgy sehiplgkfy nnrahsnyra gmiidngvkt
      781 teasakdkrp flsiisarys phqdadplkp repaiirhfi ayknqdhgaw lrggdvwlds
      841 crfadngigl tlasggtfpy ddgskqeikn slfvgesgnv gtemmdnriw gpggldhsgr
      901 tlpigqnfpi rgiqlydgpi niqnctfrkf valegrhtsa lafrlnnawq scphnnvtgi
      961 afedvpitsr vffgepgpwf nqldmdgdkt svfhdvdgsv seypgsyltk ndnwlvrhpd
     1021 cinvpdwrga icsgcyaqmy iqayktsnlr mkiikndfps hplylegalt rsthyqqyqp
     1081 vvtlqkgyti hwdqtapael aiwlinfnkg dwirvglcyp rgttfsilsd vhnrllkqts
     1141 ktgvfvrtlq mdkveqsypg rshyywdeds gllflklkaq nerekfafcs mkgcerikik
     1201 alipknagvs dctataypkf teravvdvpm pkklfgsqlk tkdhflevkm esskqhffhl
     1261 wndfayievd gkkypssedg iqvvvidgnq grvvshtsfr nsilqgipwq lfnyvatipd
     1321 nsivlmaskg ryvsrgpwtr vleklgadrg lklkeqmafv gfkgsfrpiw vtldtedhka
     1381 kifqvvpipv vkkkkl
//
LOCUS       XP_047302715             201 aa            linear   PRI 20-MAR-2023
DEFINITION  puromycin-sensitive aminopeptidase-like protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_047302715
VERSION     XP_047302715.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047446759.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..201
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..201
                     /product="puromycin-sensitive aminopeptidase-like protein
                     isoform X1"
                     /calculated_mol_wt=22172
     Region          1..>190
                     /region_name="GluZincin"
                     /note="Gluzincin Peptidase family (thermolysin-like
                     proteinases, TLPs) which includes peptidases M1, M2, M3,
                     M4, M13, M32 and M36 (fungalysins); cl14813"
                     /db_xref="CDD:449360"
     CDS             1..201
                     /gene="LOC101060212"
                     /coded_by="XM_047446759.1:125..730"
                     /db_xref="GeneID:101060212"
ORIGIN      
        1 mncadidiit asyapegdee ihatgfnyqn edekvtlsfp stlqtgtgtl kidfvgelnd
       61 kmkgfyrsky ttpsgevrya avtqfeatda rrafpcwdep aikatfdisl vvpkdrvals
      121 nmnvidrkpy pddenlvevk fartpvtsty lvafvvgeyd fvetrskdgv cvcvytpvgk
      181 aeqgkfalev nvleedcsss p
//
LOCUS       XP_054174498             493 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium-binding tyrosine phosphorylation-regulated protein isoform
            X1 [Homo sapiens].
ACCESSION   XP_054174498
VERSION     XP_054174498.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318523.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..493
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..493
                     /product="calcium-binding tyrosine
                     phosphorylation-regulated protein isoform X1"
                     /calculated_mol_wt=52627
     CDS             1..493
                     /gene="CABYR"
                     /gene_synonym="CABYRa; CABYRc; CABYRc/d; CABYRe; CBP86;
                     CT88; FSP-2; FSP2"
                     /coded_by="XM_054318523.1:321..1802"
                     /db_xref="GeneID:26256"
                     /db_xref="HGNC:HGNC:15569"
                     /db_xref="MIM:612135"
ORIGIN      
        1 misskprlvv pyglktlleg isravlktnp sninqfaaay fqeltmyrgn ttmdikdlvk
       61 qfhqikvekw segttpqkkl eclkepgkts veskvptqme kstdtdednv trteysdktt
      121 qfpsvyavpg teqteavggl sskpatpktt tppsspppta vspefayvpa dpaqlaaqml
      181 gkvssihsdq sdvlmvdvat smpvvikevp sseaaedvmv aaplvcsgkv levqvvnqts
      241 vhvdlgsqpk eneaepstas svplqdeqep paydqapevt lqadievmst vhissvyndv
      301 pvtegvvyie qlpeqivipf tdqvaclken eqskeneqsp rvspksvvek ttsgmskksv
      361 esvklaqlee nakyssvyme aeatallsdt slkgqpevpa qlldaegaik igsekslhle
      421 veitsivsdn tgqeesgens vpqemegkpv lsgeaaeavh sgtsvksssg pfppapeglt
      481 apeiepegea tae
//
LOCUS       XP_054174794             505 aa            linear   PRI 20-MAR-2023
DEFINITION  CUGBP Elav-like family member 4 isoform X6 [Homo sapiens].
ACCESSION   XP_054174794
VERSION     XP_054174794.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318819.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..505
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..505
                     /product="CUGBP Elav-like family member 4 isoform X6"
                     /calculated_mol_wt=53947
     CDS             1..505
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /coded_by="XM_054318819.1:162..1679"
                     /db_xref="GeneID:56853"
                     /db_xref="HGNC:HGNC:14015"
                     /db_xref="MIM:612679"
ORIGIN      
        1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq
       61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt
      121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee
      181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr
      241 mqqmagqmgm fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma
      301 alnmnglaaa pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan
      361 gihpypaqsp taadplqqay agvqqyagpa ypaaygqisq afpqpppmip qqqregpegc
      421 nlfiyhlpqe fgdaelmqmf lpfgnvissk vfvdratnqs kcfgfvsfdn pasaqtaiqa
      481 mngfqigmkr lkvqlkrpkd anrpy
//
LOCUS       XP_054198344             178 aa            linear   PRI 20-MAR-2023
DEFINITION  fumarylacetoacetate hydrolase domain-containing protein 2A isoform
            X4 [Homo sapiens].
ACCESSION   XP_054198344
VERSION     XP_054198344.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342369.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..178
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..178
                     /product="fumarylacetoacetate hydrolase domain-containing
                     protein 2A isoform X4"
                     /calculated_mol_wt=19561
     CDS             1..178
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /coded_by="XM_054342369.1:295..831"
                     /db_xref="GeneID:51011"
                     /db_xref="HGNC:HGNC:24252"
ORIGIN      
        1 mlvsgrrrll tvllqaqkwp fqpsrdmrlv qfraphlvgp hlgletgngg gvinlnafdp
       61 tlpktmtqfl eqgeatlsva rralaaqlpv lprsevtfla pvtrpdkvvc vgmnyvdhck
      121 eqnvpvpkep iifskfassi vgpydevvlp pqsqevdwev elavvigkkg khikihtt
//
LOCUS       XP_054180923            1303 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptojanin-1 isoform X18 [Homo sapiens].
ACCESSION   XP_054180923
VERSION     XP_054180923.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324948.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1303
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1303
                     /product="synaptojanin-1 isoform X18"
                     /calculated_mol_wt=144230
     CDS             1..1303
                     /gene="SYNJ1"
                     /gene_synonym="DEE53; EIEE53; INPP5G; PARK20"
                     /coded_by="XM_054324948.1:1..3912"
                     /db_xref="GeneID:8867"
                     /db_xref="HGNC:HGNC:11503"
                     /db_xref="MIM:604297"
ORIGIN      
        1 mrkrwacwsg sdapggcggg cgrrrrrsrr kraaseerrm afskgfriyh kldpppfsli
       61 vetrhkeecl mfesgavavl ssaekeaikg tyskvldayg llgvlrlnlg dtmlhylvlv
      121 tgcmsvgkiq esevfrvtst efislridss dedrisevrk vlnsgnfyfa wsasgisldl
      181 slnahrsmqe qttdnrffwn qslhlhlkhy gvncddwllr lmcggveirt iyaahkqaka
      241 clisrlscer agtrfnvrgt nddghvanfv eteqvvyldd svssfiqirg svplfweqpg
      301 lqvgshrvrm srgfeanapa fdrhfrtlkn lygkqiivnl lgskegehml skafqshlka
      361 sehaadiqmv nfdyhqmvkg gkaeklhsvl kpqvqkfldy gffyfngsev qrcqsgtvrt
      421 ncldcldrtn svqaflglem lakqlealgl aekpqlvtrf qevfrsmwsv ngdsiskiya
      481 gtgalegkak agklkdgars vtrtiqnnff dsskqeaidv lllgntlnsd ladkarallt
      541 tgslrasskv lksmcenfyk yskpkkirvc vgtwnvnggk qfrsiafknq tltdwlldap
      601 klagiqefqd krskptdifa igfeemveln agnivsastt nqklwavelq ktisrdnkyv
      661 llaseqlvgv clfvfirpqh apfirdvavd tvktgmggat gnkgavairm lfhttslcfv
      721 cshfaagqsq vkernedfie iarklsfpmg rmlfshdyvf wcgdfnyrid lpneevkeli
      781 rqqnwdslia gdqlinqkna gqvfrgfleg kvtfaptyky dlfsddydts ekcrtpawtd
      841 rvlwrrrkwp fdrsaedldl lnasfqdesk ilytwtpgtl lhygraelkt sdhrpvvali
      901 didifeveae erqniykevi avqgppdgtv lvsiksslpe nnffddalid ellqqfasfg
      961 evilirfved kmwvtflegs salnvlslng kellnrtiti alkspdwikn leeemsleki
     1021 sialpsstss tllgedaeva adfdmegdvd dysaeveell pqhlqpssss glgtspsssp
     1081 rtspcqspti segpvpslpi rpsrapsrtp gppsaqsspi daqpatplpq kdpaqplepk
     1141 rpppprpvap ptrpappqrp pppsgrsqps pqaglagpgp agystarpti ppragvisap
     1201 qsharasagr ltpesqskts etskgstflp eplkpqaafp pqsslpppaq rlqeplvpva
     1261 apmpqsgpqp nletppqppp rsrsshslps eassqpqqeq psg
//
LOCUS       XP_054208959            2577 aa            linear   PRI 20-MAR-2023
DEFINITION  teneurin-2 isoform X20 [Homo sapiens].
ACCESSION   XP_054208959
VERSION     XP_054208959.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352984.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2577
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2577
                     /product="teneurin-2 isoform X20"
                     /calculated_mol_wt=285958
     CDS             1..2577
                     /gene="TENM2"
                     /gene_synonym="ODZ2; ten-2; TEN-M2; TEN2; TNM2"
                     /coded_by="XM_054352984.1:5710..13443"
                     /db_xref="GeneID:57451"
                     /db_xref="HGNC:HGNC:29943"
                     /db_xref="MIM:610119"
ORIGIN      
        1 mplldsntsh qimdtnpdee fspnsyllra csgpqqasss gppnhhsqst lrpplppphn
       61 htlshhhssa nslnrnsltn rrsqihapap apndlattpe svqlqdswvl nsnvpletrh
      121 flfktssgst plfsssspgy pltsgtvytp pprllprntf srkafklkkp skycswkcaa
      181 lsaiaaalll aillayfiam hllglnwqlq padghtfnng irtglpgndd vatmpsggkv
      241 pwslknssid sgeaevgrrv tqevppgvfw rsqihisqpq flkfnislgk dalfgvyirr
      301 glppshaqyd fmerldgkek wsvvesprer rsiqtlvqne avfvqyldvg lwhlafyndg
      361 kdkemvsfnt vvldsvqdcp rnchgngecv sgvchcfpgf lgadcakaac pvlcsgngqy
      421 skgtcqcysg wkgaecdvpm nqcidpscgg hgscidgncv csagykgehc eevdcldptc
      481 sshgvcvnge clcspgwggl ncelarvqcp dqcsghgtyl pdtglcscdp nwmgpdcsve
      541 vcsvdcgthg vciggacrce egwtgaacdq rvchprcieh gtckdgkcec regwngehct
      601 igrqtagtet dgcpdlcngn grctlgqnsw qcvcqtgwrg pgcnvamets cadnkdnegd
      661 glvdcldpdc clqsacqnsl lcrgsrdpld iiqqgqtdwp avksfydrik llagkdsthi
      721 ipgenpfnss lvslirgqvv ttdgtplvgv nvsfvkypky gytitrqdgt fdlianggas
      781 ltlhferapf msqertvwlp wnsfyamdtl vmkteensip scdlsgfvrp dpiiisspls
      841 tffsaapgqn pivpetqvlh eeielpgsnv klrylssrta gyksllkitm tqstvplnli
      901 rvhlmvaveg hlfqksfqas pnlaytfiwd ktdaygqrvy glsdavvsvg feyetcpsli
      961 lwekrtallq gfeldpsnlg gwsldkhhil nvksgilhkg tgenqfltqq paiitsimgn
     1021 grrrsiscps cnglaegnkl lapvalavgi dgslyvgdfn yirrifpsrn vtsilelrnk
     1081 efkhsnnpah kyylavdpvs gslyvsdtns rriyrvksls gtkdlagnse vvagtgeqcl
     1141 pfdearcgdg gkaidatlms prgiavdkng lmyfvdatmi rkvdqngiis tllgsndlta
     1201 vrplscdssm dvaqvrlewp tdlavnpmdn slyvlennvi lritenhqvs iiagrpmhcq
     1261 vpgidyslsk laihsalesa saiaishtgv lyitetdekk inrlrqvttn geicllagaa
     1321 sdcdckndvn cncysgdday atdailnsps slavapdgti yiadlgniri ravsknkpvl
     1381 nafnqyeaas pgeqelyvfn adgihqytvs lvtgeylynf tystdndvte lidnngnslk
     1441 irrdssgmpr hllmpdnqii tltvgtnggl kvvstqnlel glmtydgntg llatksdetg
     1501 wttfydydhe grltnvtrpt gvvtslhrem eksitidien snrdddvtvi tnlssveasy
     1561 tvvqdqvrns yqlcnngtlr vmyangmgis fhsephvlag titptigrcn islpmengln
     1621 siewrlrkeq ikgkvtifgr klrvhgrnll sidydrnirt ekiyddhrkf tlriiydqvg
     1681 rpflwlpssg laavnvsyff ngrlaglqrg amsertdidk qgrivsrmfa dgkvwsysyl
     1741 dksmvlllqs qrqyifeyds sdrllavtmp svarhsmsth tsigyirniy nppesnasvi
     1801 fdysddgril ktsflgtgrq vfykygklsk lseivydsta vtfgydettg vlkmvnlqsg
     1861 gfsctiryrk igplvdkqiy rfseegmvna rfdytyhdns friasikpvi setplpvdly
     1921 rydeisgkve hfgkfgviyy dinqiittav mtlskhfdth grikevqyem frslmywmtv
     1981 qydsmgrvik relklgpyan ttkytydydg dgqlqsvavn drptwrysyd lngnlhllnp
     2041 gnsvrlmplr ydlrdritrl gdvqykiddd gylcqrgsdi feynskgllt raynkasgws
     2101 vqyrydgvgr rasyktnlgh hlqyfysdlh nptrithvyn hsnseitsly ydlqghlfam
     2161 esssgeeyyv asdntgtpla vfsinglmik qlqytaygei yydsnpdfqm vigfhgglyd
     2221 pltklvhftq rdydvlagrw tspdytmwkn vgkepapfnl ymfksnnpls seldlknyvt
     2281 dvkswlvmfg fqlsniipgf prakmyfvpp pyelsesqas engqlitgvq qtterhnqaf
     2341 malegqvitk klhasireka ghwfatttpi igkgimfaik egrvttgvss iasedsrkva
     2401 svlnnayyld kmhysiegkd thyfvkigsa dgdlvtlgtt igrkvlesgv nvtvsqptll
     2461 vngrtrrftn iefqystlll sirygltpdt ldeekarvld qarqralgta wakeqqkard
     2521 gregsrlwte gekqqllstg rvqgyegyyv lpveqypela dsssniqflr qnemgkr
//
LOCUS       XP_054210906             298 aa            linear   PRI 20-MAR-2023
DEFINITION  NAD-dependent protein deacylase sirtuin-5, mitochondrial isoform X3
            [Homo sapiens].
ACCESSION   XP_054210906
VERSION     XP_054210906.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354931.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..298
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..298
                     /product="NAD-dependent protein deacylase sirtuin-5,
                     mitochondrial isoform X3"
                     /calculated_mol_wt=32516
     CDS             1..298
                     /gene="SIRT5"
                     /gene_synonym="SIR2L5"
                     /coded_by="XM_054354931.1:339..1235"
                     /db_xref="GeneID:23408"
                     /db_xref="HGNC:HGNC:14933"
                     /db_xref="MIM:604483"
ORIGIN      
        1 mrplqivpsr lisqlycglk ppastrnqic lkmarpsssm adfrkffaka khiviisgag
       61 vsaesgvptf rgaggywrkw qaqdlatpla fahnpsrvwe fyhyrrevmg skepnaghra
      121 iaecetrlgk qgrrvvvitq nidelhrkag tknlleihgs lfktrctscg vvaenykspi
      181 cpalsgkgap epgtqdasip veklprceea gcggllrphv vwfgenldpa ileevdrela
      241 hcdlclvvgt ssvvypaamf apqvaargvp vaefntettp atnrfscfyg rtksftvd
//
LOCUS       XP_054211152            1131 aa            linear   PRI 20-MAR-2023
DEFINITION  bromodomain and PHD finger-containing protein 3 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054211152
VERSION     XP_054211152.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355177.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1131
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1131
                     /product="bromodomain and PHD finger-containing protein 3
                     isoform X2"
                     /calculated_mol_wt=126608
     CDS             1..1131
                     /gene="BRPF3"
                     /coded_by="XM_054355177.1:80..3475"
                     /db_xref="GeneID:27154"
                     /db_xref="HGNC:HGNC:14256"
                     /db_xref="MIM:616856"
ORIGIN      
        1 mrkprrksrq naegrrspsp yslkcsptre tltyaqaqri vevdidgrlh risiydplki
       61 itedeltaqd itecnsnken seqpqfpgks kkpsskgkkk escskhasgt sfhlpqpsfr
      121 mvdsgiqpea pplpaayyry iekppedlda eveydmdeed lawldmvnek rrvdghslvs
      181 adtfellvdr lekesylesr ssgaqqslid edafccvcld dechnsnvil fcdicnlavh
      241 qecygvpyip egqwlcrccl qspsrpvdci lcpnkggafk qtsdghwahv vcaiwipevc
      301 fantvflepi egidnippar wkltcyickq kglgaaiqch kvncytafhv tcaqraglfm
      361 kiepmretsl ngtiftvrkt ayceahsppg aatarrkgds prsisetgde eglkegdgee
      421 eeeeeveeee qeaqggvsgs lkgvpkkskm slkqkikkep eeagqdtpst lpmlavpqip
      481 syrlnkicsg lsfqrknqfm qrlhnywllk rqarngvpli rrlhshlqsq rnaeqreqde
      541 ktsavkeelk ywqklrhdle rarllielir kreklkreqv kvqqaamele lmpfnvllrt
      601 tldllqekdp ahifaepvnl sevpdylefi skpmdfstmr rkleshlyrt leefeedfnl
      661 ivtncmkyna kdtifhraav rlrdlggail rharrqaeni gydpergthl pespkledfy
      721 rfswedvdni lipenrahls pevqlkelle kldlvsamrs sgartrrvrl lrreinalrq
      781 klaqppppqp pslnktvsng elpagpqgda avleqalqee peddgdrdds klpppptlep
      841 tgpapslseq esppepptlk pindskppsr flkprkveed elleksplql gneplqrlls
      901 dnginrlslm apdtpagtpl sgvgrrtsvl fkkakngvkl qrspdrvlen gedhgvagsp
      961 aspasieeer hsrkrprsrs csesegersp qqeeetgmtn gfgkhtesgs dsecslglsg
     1021 glafeacsgl tppkrsrgkp alsrvpfleg vngdsdyngs grslllpfed rgdleplelv
     1081 wakcrgypsy palavaskgq spalgcgrhr gqaqdagrpq dqhpqvsagg l
//
LOCUS       XP_054217305            1119 aa            linear   PRI 20-MAR-2023
DEFINITION  trafficking protein particle complex subunit 9 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054217305
VERSION     XP_054217305.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361330.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1119
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1119
                     /product="trafficking protein particle complex subunit 9
                     isoform X3"
                     /calculated_mol_wt=125323
     CDS             1..1119
                     /gene="TRAPPC9"
                     /gene_synonym="IBP; IKBKBBP; MRT13; NIBP; T1; TRS120"
                     /coded_by="XM_054361330.1:16..3375"
                     /db_xref="GeneID:83696"
                     /db_xref="HGNC:HGNC:30832"
                     /db_xref="MIM:611966"
ORIGIN      
        1 mvpagdqdra phrgkpaqag artsrasral rswrrsqaar atvthprggh drgshggyre
       61 ghrgcrrdpq wasagpppls fteevkfelr alkdwdfkms vpdymqcaed hqtllvvvqp
      121 vgivseenff riykricsvs qisvrdsqrv lyiryrhhyp pennewgdfq thrkvvglit
      181 itdcfsakdw pqtfekfhvq keiygstlyd srlfvfglqg eiveqprtdv afypnyedcq
      241 tvekriedfi eslfivlesk rldratdksg dkipllcvpf ekkdfvgldt dsrhykkrcq
      301 grmrkhvgdl clqagmlqds lvhyhmsvel lrsvndflwl gaaleglcsa sviyhypggt
      361 ggksgarrfq gstlpaeaan rhrpgalttn ginpdtstei graknclspe diidkykeai
      421 syyskyknag vieleacika vrvlaiqkrs measeflqna vyinlrqlse eekiqrysil
      481 selyeligfh rksaffkrva amqcvapsia epgwracykl lletlpgysl sldpkdfsrg
      541 thrgwaavqm rllhelvyas rrmgnpalsv rhlsfllqtm ldflsdqekk dvaqslenyt
      601 skcpgtmepi alpggltlpp vpftklpivr hvkllnlpas lrphkmksll gqnvstkspf
      661 iyspiiahnr geernkkidf qwvqgdvcev qlmvynpmpf elrvenmgll tsgvefeslp
      721 aalslpaesg lypvtlvgvp qttgtitvng yhttvfgvfs dclldnlpgi ktsgstvevi
      781 palprlqist slprsahslq pssgdeistn vsvqlynges qqliikleni gmepleklev
      841 tskvlttkek lygdflswkl eetlaqfplq pgkvatftin ikvkldfscq enllqdlsdd
      901 gisvsgfpls spfrqvvrpr vegkpvnppe snkagdyshv ktleavlnfk ysggpghteg
      961 yyrnlslglh vevepsvfft rvstlpatst rqchllldvf nsteheltvs trssealilh
     1021 agecqrmaiq vdkfnfesfp espgekgqfa npkqleeerr eargleihsk lgicwripsl
     1081 krsgeasveg llnqlvlehl qlaplqwggq lstpvtvqt
//
LOCUS       XP_054183399            1620 aa            linear   PRI 20-MAR-2023
DEFINITION  THO complex subunit 2 isoform X5 [Homo sapiens].
ACCESSION   XP_054183399
VERSION     XP_054183399.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327424.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1620
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1620
                     /product="THO complex subunit 2 isoform X5"
                     /calculated_mol_wt=185508
     CDS             1..1620
                     /gene="THOC2"
                     /gene_synonym="CXorf3; dJ506G2.1; hTREX120; MRX12; MRX35;
                     THO2; XLID12"
                     /coded_by="XM_054327424.1:31..4893"
                     /db_xref="GeneID:57187"
                     /db_xref="HGNC:HGNC:19073"
                     /db_xref="MIM:300395"
ORIGIN      
        1 maaaavvvpa ewiknweksg rgeflhlcri lsenkshdss tyrdfqqaly elsyhvikgn
       61 lkheqasnvl sdisefredm psiladvfci ldietnclee kskrdyftql vlaclylvsd
      121 tvlkerldpe tleslglikq sqqfnqksvk iktklfykqq kfnllreene gyakliaelg
      181 qdlsgsitsd lileniksli gcfnldpnrv ldvilevfec rpehddffis llesymsmce
      241 pqtlchilgf kfkfyqepng etpsslyrva avllqfnlid lddlyvhllp adncimdehk
      301 reiaeakqiv rkltmvvlss ekmderekek ekeeekvekp pdnqklglle allkigdwqh
      361 aqnimdqmpp yyaashklia laicklihit ieplyrrvgv pkgakgspvn alqnkrapkq
      421 aesfedlrrd vfnmfcylgp hlshdpilfa kvvrigksfm kefqsdgskq edkektevil
      481 scllsitdqv llpslslmdc nacmseelwg mfktfpyqhr yrlygqwkne tynshpllvk
      541 vkaqtidrak yimkrltken vkpsgrqigk lshsnptilf dyilsqiqky dnlitpvvds
      601 lkyltslnyd vlayciieal anpekermkh ddttisswlq slasfcgavf rkypidlagl
      661 lqyvanqlka gksfdllilk evvqkmagie iteemtmeql eamtggeqlk aeggyfgqir
      721 ntkkssqrlk dalldhdlal plcllmaqqr ngvifqegge khlklvgkly dqchdtlvqf
      781 ggflasnlst edyikrvpsi dvlcnefhtp hdaafflsrp myahhissky delkksekgs
      841 kqqhkvhkyi tscemvmapv heavvslhvs kvwddispqf yatfwsltmy dlavphtsye
      901 revnklkvqm kaiddnqemp pnkkkkeker ctalqdklle eekkqmehvq rvlqrlklek
      961 dnwllakstk netitkflql cifprcifsa idavycarfv elvhqqktpn fstllcydrv
     1021 fsdiiytvas cteneasryg rflccmletv trwhsdraty ekecgnypgf ltilratgfd
     1081 ggnkadqldy enfrhvvhkw hykltkasvh cletgeythi rnilivltki lpwypkvlnl
     1141 gqalerrvhk icqeekekrp dlyalamgys gqlksrksym ipenefhhkd ppprnavasv
     1201 qngpgggpss ssigsasksd essteetdks rersqcgvka vnkassttpk gnssngnsgs
     1261 nsnkavkend kekgkekeke kkektpattp earvlgkdgk ekpkeerpnk dekaretker
     1321 tpksdkekek fkkeekakde kfkttvpnae skstqerere kepsrerdia kemkskenvk
     1381 ggektpvsgs lkspvprsdi pepereqkrr kidthpspsh sstvkvtail pkvplgseny
     1441 asspvisihf lqdslielke ssaklyinht ppplsksker emdkkdldks rersrerekk
     1501 dekdrkerkr dhsnndrevp pdltkrrkee ngtmgvskhk sespcespyp nekdkeknks
     1561 kssgkekgsd sfksekmdki ssggkkesrh dkekiekkek rdssggkeek khhkssdkhr
//
LOCUS       NP_001397893             898 aa            linear   PRI 24-MAR-2023
DEFINITION  anoctamin-5 isoform d [Homo sapiens].
ACCESSION   NP_001397893 XP_005252878
VERSION     NP_001397893.1
DBSOURCE    REFSEQ: accession NM_001410964.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 898)
  AUTHORS   Fukami T, Shiozaki A, Kosuga T, Kudou M, Shimizu H, Ohashi T, Arita
            T, Konishi H, Komatsu S, Kubota T, Fujiwara H, Okamoto K, Kishimoto
            M, Morinaga Y, Konishi E and Otsuji E.
  TITLE     Anoctamin 5 regulates the cell cycle and affects prognosis in
            gastric cancer
  JOURNAL   World J Gastroenterol 28 (32), 4649-4667 (2022)
   PUBMED   36157935
  REMARK    GeneRIF: Anoctamin 5 regulates the cell cycle and affects prognosis
            in gastric cancer.
REFERENCE   2  (residues 1 to 898)
  AUTHORS   Holm-Yildiz S, Witting N, de Stricker Borch J, Kass K, Khawajazada
            T, Krag T and Vissing J.
  TITLE     Muscle biopsy and MRI findings in ANO5-related myopathy
  JOURNAL   Muscle Nerve 64 (6), 743-748 (2021)
   PUBMED   34550615
  REMARK    GeneRIF: Muscle biopsy and MRI findings in ANO5-related myopathy.
REFERENCE   3  (residues 1 to 898)
  AUTHORS   Pan R, Lu Q, Ren C, Li H, Zeng F, Tian X and Chen H.
  TITLE     Anoctamin 5 promotes osteosarcoma development by increasing
            degradation of Nel-like proteins 1 and 2
  JOURNAL   Aging (Albany NY) 13 (13), 17316-17327 (2021)
   PUBMED   34238763
  REMARK    GeneRIF: Anoctamin 5 promotes osteosarcoma development by
            increasing degradation of Nel-like proteins 1 and 2.
REFERENCE   4  (residues 1 to 898)
  AUTHORS   Hartzell HC, Yu K, Xiao Q, Chien LT and Qu Z.
  TITLE     Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels
  JOURNAL   J Physiol 587 (Pt 10), 2127-2139 (2009)
   PUBMED   19015192
  REMARK    Review article
REFERENCE   5  (residues 1 to 898)
  AUTHORS   Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I,
            Tetreault M, Loisel L, Bouchard JP and Brais B.
  TITLE     A novel autosomal recessive limb-girdle muscular dystrophy with
            quadriceps atrophy maps to 11p13-p12
  JOURNAL   Brain 130 (Pt 2), 368-380 (2007)
   PUBMED   17008331
REFERENCE   6  (residues 1 to 898)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     GDD1 is identical to TMEM16E, a member of the TMEM16 family
  JOURNAL   Am J Hum Genet 75 (5), 927-929 (2004)
   PUBMED   15457408
REFERENCE   7  (residues 1 to 898)
  AUTHORS   Tsutsumi S, Kamata N, Vokes TJ, Maruoka Y, Nakakuki K, Enomoto S,
            Omura K, Amagasa T, Nagayama M, Saito-Ohara F, Inazawa J, Moritani
            M, Yamaoka T, Inoue H and Itakura M.
  TITLE     The novel gene encoding a putative transmembrane protein is mutated
            in gnathodiaphyseal dysplasia (GDD)
  JOURNAL   Am J Hum Genet 74 (6), 1255-1261 (2004)
   PUBMED   15124103
REFERENCE   8  (residues 1 to 898)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of TMEM16E and TMEM16F genes in
            silico
  JOURNAL   Int J Oncol 24 (5), 1345-1349 (2004)
   PUBMED   15067359
REFERENCE   9  (residues 1 to 898)
  AUTHORS   Penttila,S., Vihola,A., Palmio,J. and Udd,B.
  TITLE     ANO5 Muscle Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23193613
REFERENCE   10 (residues 1 to 898)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC107886.2 and AC104009.7.
            On Aug 18, 2022 this sequence version replaced XP_005252878.2.
            
            Summary: This gene encodes a member of the anoctamin family of
            transmembrane proteins. The encoded protein is likely a calcium
            activated chloride channel. Mutations in this gene have been
            associated with gnathodiaphyseal dysplasia. Alternatively spliced
            transcript variants have been described. [provided by RefSeq, Nov
            2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.2155095.1,
                                           SRR1803612.54585.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..898
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p14.3"
     Protein         1..898
                     /product="anoctamin-5 isoform d"
                     /note="transmembrane protein 16E; integral membrane
                     protein GDD1; gnathodiaphyseal dysplasia 1 protein"
                     /calculated_mol_wt=105129
     Region          57..274
                     /region_name="Anoct_dimer"
                     /note="dimerization domain of Ca+-activated
                     chloride-channel, anoctamin; pfam16178"
                     /db_xref="CDD:435192"
     Region          277..853
                     /region_name="Anoctamin"
                     /note="Calcium-activated chloride channel; pfam04547"
                     /db_xref="CDD:428001"
     Site            285..305
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            320
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            351
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            365
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            366..386
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            448..468
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            497..517
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            543..563
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            665..685
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            718..738
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            753
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            763
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            776
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            820..840
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     CDS             1..898
                     /gene="ANO5"
                     /gene_synonym="GDD1; LGMD2L; LGMDR12; TMEM16E"
                     /coded_by="NM_001410964.1:409..3105"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS91451.1"
                     /db_xref="GeneID:203859"
                     /db_xref="HGNC:HGNC:27337"
                     /db_xref="MIM:608662"
ORIGIN      
        1 mgdpdllevl aeegekvnkh idysfqmses lssretsfli neetmfqknq qskdsiffrd
       61 girqidfvls yvddvkkdae lkaerrkefe tnlrktglel eiedkrdsed grtyfvkiha
      121 pwevlvtyae vlgikmpike sdiprpkhtp isyvlgpvrl plsvkyphpe yftaqfsrhr
      181 qelfliedqa tffpsssrnr ivyyilsrcp fgiedgkkrf gierllnsnt yssayplhdg
      241 qywkpseppn ptnerytlhq nwarfsyfyk eqpldlikny ygekigiyfv flgfytemlf
      301 faavvglacf iygllsmehn tssteicdpe iggqmimcpl cdqvcdywrl nstclaskfs
      361 hlfdnestvf faifmgiwvt lflefwkqrq arleyewdlv dfeeeqqqlq lrpefeamck
      421 hrklnavtke mepymplytr ipwyflsgat vtlwmslvvt smvavivyrl svfatfasfm
      481 esdaslkqvk sfltpqitts ltgsclnfiv ililnffyek isawitkmei prtyqeyess
      541 ltlkmflfqf vnfysscfyv affkgkfvgy pgkytylfne wrseecdpgg clielttqlt
      601 iimtgkqifg nikeaiypla lnwwrrrkar tnseklysrw eqdhdlesfg plglfyeyle
      661 tvtqfgfvtl fvasfplapl lalinnivei rvdawklttq yrrtvaskah sigvwqdily
      721 gmavlsvatn afivaftsdi iprlvyyyay stnatqpmtg yvnnslsvfl iadfpnhtap
      781 sekrdfitcr yrdyryppdd enkyfhnmqf whvlaakmtf iivmehvvfl vkfllawmip
      841 dvpkdvveri kreklmtiki lhdfelnklk enlginsnef akhvmieenk aqlakstl
//
LOCUS       NP_001394583            1837 aa            linear   PRI 25-MAR-2023
DEFINITION  breast cancer type 1 susceptibility protein isoform 22 [Homo
            sapiens].
ACCESSION   NP_001394583
VERSION     NP_001394583.1
DBSOURCE    REFSEQ: accession NM_001407654.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1837)
  AUTHORS   Orban TI and Olah E.
  TITLE     Emerging roles of BRCA1 alternative splicing
  JOURNAL   Mol Pathol 56 (4), 191-197 (2003)
   PUBMED   12890739
  REMARK    Review article
REFERENCE   2  (residues 1 to 1837)
  AUTHORS   Orban TI and Olah E.
  TITLE     Expression profiles of BRCA1 splice variants in asynchronous and in
            G1/S synchronized tumor cell lines
  JOURNAL   Biochem Biophys Res Commun 280 (1), 32-38 (2001)
   PUBMED   11162473
REFERENCE   3  (residues 1 to 1837)
  AUTHORS   Paterson JW.
  TITLE     BRCA1: a review of structure and putative functions
  JOURNAL   Dis Markers 13 (4), 261-274 (1998)
   PUBMED   9553742
  REMARK    Review article
REFERENCE   4  (residues 1 to 1837)
  AUTHORS   Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S,
            Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E.
  TITLE     Mutations and alternative splicing of the BRCA1 gene in UK
            breast/ovarian cancer families
  JOURNAL   Genes Chromosomes Cancer 18 (2), 102-110 (1997)
   PUBMED   9115959
REFERENCE   5  (residues 1 to 1837)
  AUTHORS   Wilson CA, Payton MN, Elliott GS, Buaas FW, Cajulis EE, Grosshans
            D, Ramos L, Reese DM, Slamon DJ and Calzone FJ.
  TITLE     Differential subcellular localization, expression and biological
            toxicity of BRCA1 and the splice variant BRCA1-delta11b
  JOURNAL   Oncogene 14 (1), 1-16 (1997)
   PUBMED   9010228
REFERENCE   6  (residues 1 to 1837)
  AUTHORS   Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, Yao J, Farid
            LM, Couch FJ, Wilson RB and Weber BL.
  TITLE     Localization of BRCA1 and a splice variant identifies the nuclear
            localization signal
  JOURNAL   Mol Cell Biol 17 (1), 444-452 (1997)
   PUBMED   8972225
REFERENCE   7  (residues 1 to 1837)
  AUTHORS   Lu M, Conzen SD, Cole CN and Arrick BA.
  TITLE     Characterization of functional messenger RNA splice variants of
            BRCA1 expressed in nonmalignant and tumor-derived breast cells
  JOURNAL   Cancer Res 56 (20), 4578-4581 (1996)
   PUBMED   8840964
REFERENCE   8  (residues 1 to 1837)
  AUTHORS   Holt JT, Thompson ME, Szabo C, Robinson-Benion C, Arteaga CL, King
            MC and Jensen RA.
  TITLE     Growth retardation and tumour inhibition by BRCA1
  JOURNAL   Nat Genet 12 (3), 298-302 (1996)
   PUBMED   8589721
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
REFERENCE   9  (residues 1 to 1837)
  AUTHORS   Xu CF, Brown MA, Chambers JA, Griffiths B, Nicolai H and Solomon E.
  TITLE     Distinct transcription start sites generate two forms of BRCA1 mRNA
  JOURNAL   Hum Mol Genet 4 (12), 2259-2264 (1995)
   PUBMED   8634696
REFERENCE   10 (residues 1 to 1837)
  AUTHORS   Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K,
            Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al.
  TITLE     A strong candidate for the breast and ovarian cancer susceptibility
            gene BRCA1
  JOURNAL   Science 266 (5182), 66-71 (1994)
   PUBMED   7545954
REFERENCE   11 (residues 1 to 1837)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
REFERENCE   12 (residues 1 to 1837)
  AUTHORS   Petrucelli,N., Daly,M.B. and Pal,T.
  TITLE     BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135721.4.
            
            Summary: This gene encodes a 190 kD nuclear phosphoprotein that
            plays a role in maintaining genomic stability, and it also acts as
            a tumor suppressor. The BRCA1 gene contains 22 exons spanning about
            110 kb of DNA. The encoded protein combines with other tumor
            suppressors, DNA damage sensors, and signal transducers to form a
            large multi-subunit protein complex known as the BRCA1-associated
            genome surveillance complex (BASC). This gene product associates
            with RNA polymerase II, and through the C-terminal domain, also
            interacts with histone deacetylase complexes. This protein thus
            plays a role in transcription, DNA repair of double-stranded
            breaks, and recombination. Mutations in this gene are responsible
            for approximately 40% of inherited breast cancers and more than 80%
            of inherited breast and ovarian cancers. Alternative splicing plays
            a role in modulating the subcellular localization and physiological
            function of this gene. Many alternatively spliced transcript
            variants, some of which are disease-associated mutations, have been
            described for this gene, but the full-length natures of only some
            of these variants has been described. A related pseudogene, which
            is also located on chromosome 17, has been identified. [provided by
            RefSeq, May 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3636188.1,
                                           SRR18074967.2534397.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1837
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..1837
                     /product="breast cancer type 1 susceptibility protein
                     isoform 22"
                     /EC_number="2.3.2.27"
                     /note="BRCA1/BRCA2-containing complex, subunit 1; RING
                     finger protein 53; breast cancer type 1 susceptibility
                     protein; breast and ovarian cancer susceptibility protein
                     1; protein phosphatase 1, regulatory subunit 53; Fanconi
                     anemia, complementation group S; early onset breast cancer
                     1; breast cancer 1, early onset"
                     /calculated_mol_wt=204601
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          7..73
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Site            88
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          204..244
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          280..312
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          319..481
                     /region_name="BRCT_assoc"
                     /note="Serine-rich domain associated with BRCT; pfam12820"
                     /db_xref="CDD:432806"
     Site            369
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            372
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            397
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            408
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          508..544
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            525
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          628..683
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            668
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            682
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            699
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48754; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            727
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            814
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48754; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            962
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CHEK2.
                     /evidence=ECO:0000269|PubMed:10724175,
                     ECO:0000269|PubMed:20364141; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            983
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1117
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1155..1190
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1163
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1165
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1185
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1191
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1192
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1254
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1296..1361
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1302
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1310
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1316
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1361
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM and ATR.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1368
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1371..1398
                     /region_name="Interaction with PALB2.
                     /evidence=ECO:0000269|PubMed:19369211"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1397
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM and ATR.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1414..1479
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1431
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1498
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM.
                     /evidence=ECO:0000269|PubMed:21144835; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1516
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1539..1570
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          1624..1720
                     /region_name="BRCT_BRCA1_rpt1"
                     /note="first BRCT domain of breast cancer type 1
                     susceptibility protein (BRCA1) and similar proteins;
                     cd17735"
                     /db_xref="CDD:349367"
     Site            order(1628..1630,1632,1672..1676,1678,1714)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349367"
     Region          1732..1829
                     /region_name="BRCT_BRCA1_rpt2"
                     /note="second (C-terminal) BRCT domain of breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd17721"
                     /db_xref="CDD:349353"
     Site            order(1748..1749,1809..1810,1814,1826..1827)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349353"
     CDS             1..1837
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /coded_by="NM_001407654.1:108..5621"
                     /note="isoform 22 is encoded by transcript variant 63"
                     /db_xref="GeneID:672"
                     /db_xref="HGNC:HGNC:1100"
                     /db_xref="MIM:113705"
ORIGIN      
        1 mdlsalrvee vqnvinamqk ilecpiclel ikepvstkcd hifckslqes trfsqlveel
       61 lkiicafqld tgleyansyn fakkennspe hlkdevsiiq smgyrnrakr llqsepenps
      121 lqetslsvql snlgtvrtlr tkqriqpqkt svyielgsds sedtvnkaty csvgdqellq
      181 itpqgtrdei sldsakkaac efsetdvtnt ehhqpsnndl nttekraaer hpekyqgssv
      241 snlhvepcgt nthasslqhe nssllltkdr mnvekaefcn kskqpglars qhnrwagske
      301 tcndrrtpst ekkvdlnadp lcerkewnkq klpcsenprd tedvpwitln ssiqkvnewf
      361 srsdellgsd dshdgesesn akvadvldvl nevdeysgss ekidllasdp healickser
      421 vhsksvesni edkifgktyr kkaslpnlsh vtenliigaf vtepqiiqer pltnklkrkr
      481 rptsglhped fikkadlavq ktpeminqgt nqteqngqvm nitnsghenk tkgdsiqnek
      541 npnpieslek esafktkaep isssisnmel elnihnskap kknrlrrkss trhihalelv
      601 vsrnlsppnc telqidscss seeikkkkyn qmpvrhsrnl qlmegkepat gakksnkpne
      661 qtskrhdsdt fpelkltnap gsftkcsnts elkefvnpsl preekeekle tvkvsnnaed
      721 pkdlmlsger vlqtersves ssislvpgtd ygtqesisll evstlgkakt epnkcvsqca
      781 afenpkglih gcskdnrndt egfkyplghe vnhsretsie meeseldaqy lqntfkvskr
      841 qsfapfsnpg naeeecatfs ahsgslkkqs pkvtfeceqk eenqgknesn ikpvqtvnit
      901 agfpvvgqkd kpvdnakcsi kggsrfclss qfrgnetgli tpnkhgllqn pyripplfpi
      961 ksfvktkckk nlleenfeeh smsperemgn enipstvsti srnnirenvf keasssnine
     1021 vgsstnevgs sineigssde niqaelgrnr gpklnamlrl gvlqpevykq slpgsnckhp
     1081 eikkqeyeev vqtvntdfsp ylisdnleqp mgsshasqvc setpddlldd geikedtsfa
     1141 endikessav fsksvqkgel srspspftht hlaqgyrrga kklesseenl ssedeelpcf
     1201 qhllfgkvnn ipsqstrhst vateclsknt eenllslkns lndcsnqvil akasqehhls
     1261 eetkcsaslf ssqcseledl tantntqdpf ligsskqmrh qsesqgvgls dkelvsddee
     1321 rgtgleennq eeqsmdsnlg eaasgceset svsedcsgls sqsdilttqq rdtmqhnlik
     1381 lqqemaelea vleqhgsqps nsypsiisds saledlrnpe qstsekavlt sqksseypis
     1441 qnpeglsadk fevsadssts knkepgvers spskcpsldd rwymhscsgs lqnrnypsqe
     1501 elikvvdvee qqleesgphd ltetsylprq dlegtpyles gislfsddpe sdpsedrape
     1561 sarvgnipss tsalkvpqlk vaesaqspaa ahttdtagyn ameesvsrek peltasterv
     1621 nkrmsmvvsg ltpeefmlvy kfarkhhitl tnliteetth vvmktdaefv certlkyflg
     1681 iaggkwvvsy fwvtqsiker kmlnehdfev rgdvvngrnh qgpkraresq drkifrglei
     1741 ccygpftnmp tdqlewmvql cgasvvkels sftlgtgvhp ivvvqpdawt edngfhaigq
     1801 mceapvvtre wvldsvalyq cqeldtylip qiphshy
//
LOCUS       NP_001123552             122 aa            linear   PRI 05-APR-2023
DEFINITION  interferon alpha-inducible protein 27, mitochondrial isoform 1
            [Homo sapiens].
ACCESSION   NP_001123552
VERSION     NP_001123552.1
DBSOURCE    REFSEQ: accession NM_001130080.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 122)
  AUTHORS   Shojaei M, Shamshirian A, Monkman J, Grice L, Tran M, Tan CW, Teo
            SM, Rodrigues Rossi G, McCulloch TR, Nalos M, Raei M, Razavi A,
            Ghasemian R, Gheibi M, Roozbeh F, Sly PD, Spann KM, Chew KY, Zhu Y,
            Xia Y, Wells TJ, Senegaglia AC, Kuniyoshi CL, Franck CL, Dos Santos
            AFR, de Noronha L, Motamen S, Valadan R, Amjadi O, Gogna R, Madan
            E, Alizadeh-Navaei R, Lamperti L, Zuniga F, Nova-Lamperti E,
            Labarca G, Knippenberg B, Herwanto V, Wang Y, Phu A, Chew T, Kwan
            T, Kim K, Teoh S, Pelaia TM, Kuan WS, Jee Y, Iredell J, O'Byrne K,
            Fraser JF, Davis MJ, Belz GT, Warkiani ME, Gallo CS,
            Souza-Fonseca-Guimaraes F, Nguyen Q, Mclean A, Kulasinghe A, Short
            KR and Tang B.
  TITLE     IFI27 transcription is an early predictor for COVID-19 outcomes, a
            multi-cohort observational study
  JOURNAL   Front Immunol 13, 1060438 (2023)
   PUBMED   36685600
  REMARK    GeneRIF: IFI27 transcription is an early predictor for COVID-19
            outcomes, a multi-cohort observational study.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 122)
  AUTHORS   Saini J, Thapa U, Bandyopadhyay B, Vrati S and Banerjee A.
  TITLE     Knockdown of NEAT1 restricts dengue virus replication by augmenting
            interferon alpha-inducible protein 27 via the RIG-I pathway
  JOURNAL   J Gen Virol 104 (1) (2023)
   PUBMED   36748518
  REMARK    GeneRIF: Knockdown of NEAT1 restricts dengue virus replication by
            augmenting interferon alpha-inducible protein 27 via the RIG-I
            pathway.
REFERENCE   3  (residues 1 to 122)
  AUTHORS   Guo M, Cao W, Chen S, Tian R, Xue B, Wang L, Liu Q, Deng R, Wang X,
            Wang Z, Zhang Y, Yang D, Zuo C, Li G, Tang S and Zhu H.
  TITLE     TRIM21 Regulates Virus-Induced Cell Pyroptosis through
            Polyubiquitination of ISG12a
  JOURNAL   J Immunol 209 (10), 1987-1998 (2022)
   PUBMED   36426955
REFERENCE   4  (residues 1 to 122)
  AUTHORS   Xie F, Zhang Y, Li J, Sun L, Zhang L, Qi M, Zhang S, Jian F, Li X,
            Li J, Ning C and Wang R.
  TITLE     MiR-942-5p targeting the IFI27 gene regulates HCT-8 cell apoptosis
            via a TRAIL-dependent pathway during the early phase of
            Cryptosporidium parvum infection
  JOURNAL   Parasit Vectors 15 (1), 291 (2022)
   PUBMED   35974384
  REMARK    GeneRIF: MiR-942-5p targeting the IFI27 gene regulates HCT-8 cell
            apoptosis via a TRAIL-dependent pathway during the early phase of
            Cryptosporidium parvum infection.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 122)
  AUTHORS   Li X, Kolling FW, Aridgides D, Mellinger D, Ashare A and Jakubzick
            CV.
  TITLE     ScRNA-seq expression of IFI27 and APOC2 identifies four alveolar
            macrophage superclusters in healthy BALF
  JOURNAL   Life Sci Alliance 5 (11), e202201458 (2022)
   PUBMED   35820705
  REMARK    GeneRIF: ScRNA-seq expression of IFI27 and APOC2 identifies four
            alveolar macrophage superclusters in healthy BALF.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 122)
  AUTHORS   Izmailova E, Bertley FM, Huang Q, Makori N, Miller CJ, Young RA and
            Aldovini A.
  TITLE     HIV-1 Tat reprograms immature dendritic cells to express
            chemoattractants for activated T cells and macrophages
  JOURNAL   Nat Med 9 (2), 191-197 (2003)
   PUBMED   12539042
REFERENCE   7  (residues 1 to 122)
  AUTHORS   Martensen PM, Sogaard TM, Gjermandsen IM, Buttenschon HN, Rossing
            AB, Bonnevie-Nielsen V, Rosada C, Simonsen JL and Justesen J.
  TITLE     The interferon alpha induced protein ISG12 is localized to the
            nuclear membrane
  JOURNAL   Eur J Biochem 268 (22), 5947-5954 (2001)
   PUBMED   11722583
REFERENCE   8  (residues 1 to 122)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   9  (residues 1 to 122)
  AUTHORS   Taules M, Rius E, Talaya D, Lopez-Girona A, Bachs O and Agell N.
  TITLE     Calmodulin is essential for cyclin-dependent kinase 4 (Cdk4)
            activity and nuclear accumulation of cyclin D1-Cdk4 during G1
  JOURNAL   J Biol Chem 273 (50), 33279-33286 (1998)
   PUBMED   9837900
REFERENCE   10 (residues 1 to 122)
  AUTHORS   Rasmussen UB, Wolf C, Mattei MG, Chenard MP, Bellocq JP, Chambon P,
            Rio MC and Basset P.
  TITLE     Identification of a new interferon-alpha-inducible gene (p27) on
            human chromosome 14q32 and its expression in breast carcinoma
  JOURNAL   Cancer Res 53 (17), 4096-4101 (1993)
   PUBMED   8358738
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BN000227.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1). This variant represents an allele commonly found in the human
            population and corresponds to the allele present in the GRC
            reference assembly. Variants 1, 3, 5, 11 and 12 encode the same
            isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CB113159.1, BX647330.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..122
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12"
     Protein         1..122
                     /product="interferon alpha-inducible protein 27,
                     mitochondrial isoform 1"
                     /note="2310061N23Rik; interferon alpha-inducible protein
                     27, mitochondrial; ISG12(a); interferon-stimulated gene
                     12a protein; interferon alpha-induced 11.5 kDa protein"
                     /calculated_mol_wt=8318
     transit_peptide 1..33
                     /note="Mitochondrion.
                     /evidence=ECO:0000305|PubMed:18330707; propagated from
                     UniProtKB/Swiss-Prot (P40305.4)"
                     /calculated_mol_wt=3242
     Site            34..57
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P40305.4)"
     Region          37..115
                     /region_name="Ifi-6-16"
                     /note="Interferon-induced 6-16 family; pfam06140"
                     /db_xref="CDD:428787"
     Site            71..91
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P40305.4)"
     Region          76..122
                     /region_name="Mediates interaction with SKP2 and hepatitis
                     C virus non-structural protein NS5A.
                     /evidence=ECO:0000269|PubMed:27194766"
                     /note="propagated from UniProtKB/Swiss-Prot (P40305.4)"
     Site            99..119
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P40305.4)"
     Region          103..112
                     /region_name="Required for hepatitis C virus
                     non-structural protein NS5A degradation.
                     /evidence=ECO:0000269|PubMed:27194766"
                     /note="propagated from UniProtKB/Swiss-Prot (P40305.4)"
     CDS             1..122
                     /gene="IFI27"
                     /gene_synonym="FAM14D; ISG12; ISG12A; P27"
                     /coded_by="NM_001130080.3:121..489"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="GeneID:3429"
                     /db_xref="HGNC:HGNC:5397"
                     /db_xref="MIM:600009"
ORIGIN      
        1 measaltssa vtsvakvvrv asgsavvlpl ariatvvigg vvamaavpmv lsamgftaag
       61 iasssiaakm msaaaiangg gvasgslvat lqslgatgls gltkfilgsi gsaiaaviar
      121 fy
//
LOCUS       NP_001254537             650 aa            linear   PRI 18-DEC-2022
DEFINITION  protein ENTREP3 isoform c [Homo sapiens].
ACCESSION   NP_001254537
VERSION     NP_001254537.1
DBSOURCE    REFSEQ: accession NM_001267608.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 650)
  AUTHORS   Wu CL, Tan QX, Liu D, Jiang JE, Lu T, Huang ZM and Su YJ.
  TITLE     High FAM189B Expression and Its Prognostic Value in Patients with
            Gastric Cancer
  JOURNAL   Biomed Res Int 2021, 8875971 (2021)
   PUBMED   34124264
  REMARK    GeneRIF: High FAM189B Expression and Its Prognostic Value in
            Patients with Gastric Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 650)
  AUTHORS   Zhang H, Tian Y, Shen J, Wang Y, Xu Y, Wang Y, Han Z and Li X.
  TITLE     Upregulation of the putative oncogene COTE1 contributes to human
            hepatocarcinogenesis through modulation of WWOX signaling
  JOURNAL   Int J Oncol 45 (2), 719-731 (2014)
   PUBMED   24899407
  REMARK    GeneRIF: our findings suggest that the cytoplasmic protein COTE1
            contributes to hepatocellular carcinoma tumorigenesis by regulating
            cell proliferation through the modulation of WWOX signaling
REFERENCE   3  (residues 1 to 650)
  AUTHORS   Zhang H, Huang CJ, Tian Y, Wang YP, Han ZG and Li XC.
  TITLE     Ectopic overexpression of COTE1 promotes cellular invasion of
            hepatocellular carcinoma
  JOURNAL   Asian Pac J Cancer Prev 13 (11), 5799-5804 (2012)
   PUBMED   23317259
  REMARK    GeneRIF: Overexpression of COTE1 promotes cellular invasion of
            hepatocellular carcinoma.
REFERENCE   4  (residues 1 to 650)
  AUTHORS   Kallin A, Johannessen LE, Cani PD, Marbehant CY, Essaghir A,
            Foufelle F, Ferre P, Heldin CH, Delzenne NM and Demoulin JB.
  TITLE     SREBP-1 regulates the expression of heme oxygenase 1 and the
            phosphatidylinositol-3 kinase regulatory subunit p55 gamma
  JOURNAL   J Lipid Res 48 (7), 1628-1636 (2007)
   PUBMED   17452746
REFERENCE   5  (residues 1 to 650)
  AUTHORS   Ludes-Meyers JH, Kil H, Bednarek AK, Drake J, Bedford MT and Aldaz
            CM.
  TITLE     WWOX binds the specific proline-rich ligand PPXY: identification of
            candidate interacting proteins
  JOURNAL   Oncogene 23 (29), 5049-5055 (2004)
   PUBMED   15064722
REFERENCE   6  (residues 1 to 650)
  AUTHORS   Winfield SL, Tayebi N, Martin BM, Ginns EI and Sidransky E.
  TITLE     Identification of three additional genes contiguous to the
            glucocerebrosidase locus on chromosome 1q21: implications for
            Gaucher disease
  JOURNAL   Genome Res 7 (10), 1020-1026 (1997)
   PUBMED   9331372
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL713999.28, BC033707.2 and AF070550.1.
            
            Summary: This gene is located near the gene for the lysosomal
            enzyme glucosylceramidase; a deficiency in this enzyme is
            associated with Gaucher disease. The encoded protein has been
            identified as a potential binding partner of a WW domain-containing
            protein which is involved in apoptosis and tumor suppression.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (3) lacks an in-frame exon in the
            5' coding region, compared to variant 1. It encodes isoform c which
            is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC033707.2 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..650
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     Protein         1..650
                     /product="protein ENTREP3 isoform c"
                     /note="protein FAM189B; family with sequence similarity
                     189 member B; protein ENTREP3"
                     /calculated_mol_wt=69294
     Region          36..177
                     /region_name="CD20"
                     /note="CD20-like family; pfam04103"
                     /db_xref="CDD:427713"
     CDS             1..650
                     /gene="ENTREP3"
                     /gene_synonym="C1orf2; COTE1; FAM189B"
                     /coded_by="NM_001267608.2:607..2559"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS58035.1"
                     /db_xref="GeneID:10712"
                     /db_xref="HGNC:HGNC:1233"
                     /db_xref="MIM:619447"
ORIGIN      
        1 mmpspsdssr sltsrpstrg lthlrlhrpw lqalltlglv qvllgilvvt fsmvassvtt
       61 tesikrscps wagfsisffs llsvlcvmls magsvlsckn aqlardfqqc slegkvcvcc
      121 psvpllrpcp esgqelkvap nstcdearga lknllfsvcg lticaaiict lsaivcciqi
      181 fsldlvhtql apersvsgpl gplgctsppp apllhtmldl eefvppvppp pyyppeytcs
      241 setdaqsity ngsmdspvpl yptdcppsye avmglrgdsq atlfdpqlhd gscicervas
      301 ivdvsmdsgs lvlsaigdlp ggsspsedsc llelqgsvrs vdyvlfrsiq rsragyclsl
      361 dcglrgpfee splprrppra arsyscsape appplgapta arschrlegw ppwvgpcfpe
      421 lrrrvprggg rpaaapptra ptrrfsdssg sltppghrpp hpasppplll prshsdpgit
      481 tssdtadfrd lytkvleeea asvssadtgl cseaclfrla rcpspkllra rsaekrrpvp
      541 tfqkvplpsg papahslgdl kgswpgrglv trflqisrka pdpsgtgahg hkqvprslwg
      601 rpgreslhlr scgdlsssss lrrllsgrrl ergtrphsls lnggsretgl
//
LOCUS       NP_115752                257 aa            linear   PRI 25-DEC-2022
DEFINITION  transmembrane protein 101 isoform a [Homo sapiens].
ACCESSION   NP_115752
VERSION     NP_115752.1
DBSOURCE    REFSEQ: accession NM_032376.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 257)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 257)
  AUTHORS   Naukkarinen J, Surakka I, Pietilainen KH, Rissanen A, Salomaa V,
            Ripatti S, Yki-Jarvinen H, van Duijn CM, Wichmann HE, Kaprio J,
            Taskinen MR and Peltonen L.
  CONSRTM   ENGAGE Consortium
  TITLE     Use of genome-wide expression data to mine the 'Gray Zone' of GWA
            studies leads to novel candidate obesity genes
  JOURNAL   PLoS Genet 6 (6), e1000976 (2010)
   PUBMED   20532202
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 257)
  AUTHORS   Matsuda A, Suzuki Y, Honda G, Muramatsu S, Matsuzaki O, Nagano Y,
            Doi T, Shimotohno K, Harada T, Nishida E, Hayashi H and Sugano S.
  TITLE     Large-scale identification and characterization of human genes that
            activate NF-kappaB and MAPK signaling pathways
  JOURNAL   Oncogene 22 (21), 3307-3318 (2003)
   PUBMED   12761501
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC007438.2 and AI420766.1.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC007438.2, SRR3476690.171367.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000206380.8/ ENSP00000206380.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..257
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..257
                     /product="transmembrane protein 101 isoform a"
                     /note="putative NF-kappa-B-activating protein 130"
                     /calculated_mol_wt=28664
     Region          8..256
                     /region_name="TMEM101"
                     /note="TMEM101 protein family; pfam15111"
                     /db_xref="CDD:405750"
     Site            21..40
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96IK0.1)"
     Site            52..72
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96IK0.1)"
     Site            77..97
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96IK0.1)"
     Site            110..130
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96IK0.1)"
     Site            139..159
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96IK0.1)"
     Site            182..202
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96IK0.1)"
     Site            206..226
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96IK0.1)"
     Site            233..253
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96IK0.1)"
     CDS             1..257
                     /gene="TMEM101"
                     /coded_by="NM_032376.4:12..785"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS11474.1"
                     /db_xref="GeneID:84336"
                     /db_xref="HGNC:HGNC:28653"
ORIGIN      
        1 maskigsrrw mlqlimqlgs vlltrcpfwg cfsqlmlyae raearrkpdi pvpylyfdmg
       61 aavlcasfms fgvkrrwfal gaalqlaist yaayiggyvh ygdwlkvrmy srtvaiiggf
      121 lvlasgagel yrrkprsrsl qstgqvflgi ylicvayslq hskedrlayl nhlpggelmi
      181 qlffvlygil alaflsgyyv tlaaqilavl lppvmllidg nvaywhntrr vefwnqmkll
      241 gesvgifgta vilatdg
//
LOCUS       NP_001244288             417 aa            linear   PRI 26-DEC-2022
DEFINITION  sterile alpha motif domain-containing protein 14 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001244288
VERSION     NP_001244288.1
DBSOURCE    REFSEQ: accession NM_001257359.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 417)
  AUTHORS   Xu X, Chang X, Xu Y, Deng P, Wang J, Zhang C, Zhu X, Chen S and Dai
            D.
  TITLE     SAMD14 promoter methylation is strongly associated with gene
            expression and poor prognosis in gastric cancer
  JOURNAL   Int J Clin Oncol 25 (6), 1105-1114 (2020)
   PUBMED   32206938
  REMARK    GeneRIF: SAMD14 promoter hyper-methylation was significantly
            associated with a poor prognosis in gastric cancer.
REFERENCE   2  (residues 1 to 417)
  AUTHORS   Thurner L, Preuss KD, Bewarder M, Kemele M, Fadle N, Regitz E,
            Altmeyer S, Schormann C, Poeschel V, Ziepert M, Walter S, Roth P,
            Weller M, Szczepanowski M, Klapper W, Monoranu C, Rosenwald A,
            Moller P, Hartmann S, Hansmann ML, Mackensen A, Schafer H, Schorb
            E, Illerhaus G, Buslei R, Bohle RM, Stilgenbauer S, Kim YJ and
            Pfreundschuh M.
  TITLE     Hyper-N-glycosylated SAMD14 and neurabin-I as driver autoantigens
            of primary central nervous system lymphoma
  JOURNAL   Blood 132 (26), 2744-2753 (2018)
   PUBMED   30249786
  REMARK    GeneRIF: Hyper-N-glycosylated SAMD14 and neurabin-I as driver
            autoantigens of primary central nervous system lymphoma.
REFERENCE   3  (residues 1 to 417)
  AUTHORS   Shen Y, Takahashi M, Byun HM, Link A, Sharma N, Balaguer F, Leung
            HC, Boland CR and Goel A.
  TITLE     Boswellic acid induces epigenetic alterations by modulating DNA
            methylation in colorectal cancer cells
  JOURNAL   Cancer Biol Ther 13 (7), 542-552 (2012)
   PUBMED   22415137
REFERENCE   4  (residues 1 to 417)
  AUTHORS   Fehrmann RS, Jansen RC, Veldink JH, Westra HJ, Arends D, Bonder MJ,
            Fu J, Deelen P, Groen HJ, Smolonska A, Weersma RK, Hofstra RM,
            Buurman WA, Rensen S, Wolfs MG, Platteel M, Zhernakova A, Elbers
            CC, Festen EM, Trynka G, Hofker MH, Saris CG, Ophoff RA, van den
            Berg LH, van Heel DA, Wijmenga C, Te Meerman GJ and Franke L.
  TITLE     Trans-eQTLs reveal that independent genetic variants associated
            with a complex phenotype converge on intermediate genes, with a
            major role for the HLA
  JOURNAL   PLoS Genet 7 (8), e1002197 (2011)
   PUBMED   21829388
REFERENCE   5  (residues 1 to 417)
  AUTHORS   Sun W, Iijima T, Kano J, Kobayashi H, Li D, Morishita Y, Okubo C,
            Anami Y and Noguchi M.
  TITLE     Frequent aberrant methylation of the promoter region of sterile
            alpha motif domain 14 in pulmonary adenocarcinoma
  JOURNAL   Cancer Sci 99 (11), 2177-2184 (2008)
   PUBMED   18823374
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC002401.2, CN369613.1, AK094209.1, AF035306.1 and BM973393.1.
            
            Transcript Variant: This variant (2) lacks an exon in the coding
            region, but maintains the reading frame, compared to variant 1. The
            encoded isoform (2) is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK094209.1, BC141822.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000330175.9/ ENSP00000329144.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..417
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     Protein         1..417
                     /product="sterile alpha motif domain-containing protein 14
                     isoform 2"
                     /note="sterile alpha motif domain-containing protein 14;
                     SAM domain-containing protein 14"
                     /calculated_mol_wt=44925
     Region          37..299
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZD0.2)"
     Site            84
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K070; propagated from
                     UniProtKB/Swiss-Prot (Q8IZD0.2)"
     Site            108
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K070; propagated from
                     UniProtKB/Swiss-Prot (Q8IZD0.2)"
     Site            173
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K070; propagated from
                     UniProtKB/Swiss-Prot (Q8IZD0.2)"
     Site            179
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5BJU3; propagated from
                     UniProtKB/Swiss-Prot (Q8IZD0.2)"
     Site            279
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K070; propagated from
                     UniProtKB/Swiss-Prot (Q8IZD0.2)"
     Site            283
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8K070; propagated from
                     UniProtKB/Swiss-Prot (Q8IZD0.2)"
     Region          321..386
                     /region_name="SAM_Neurabin-like"
                     /note="SAM domain of SAM_Neurabin-like subfamily; cd09512"
                     /db_xref="CDD:188911"
     Region          388..417
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZD0.2)"
     CDS             1..417
                     /gene="SAMD14"
                     /coded_by="NM_001257359.2:657..1910"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS58562.1"
                     /db_xref="GeneID:201191"
                     /db_xref="HGNC:HGNC:27312"
                     /db_xref="MIM:619233"
ORIGIN      
        1 massklrepv devfdldlav petarldssl hkaraqllak grrhrpsrsr lrdsassaed
       61 gegsdgpggk vtdgcgsplh rlrsplhsgp gspaggsfcl dppglrrsld edepppsplt
      121 ryrplhnaas heglaaascs pprsapssds spsfvrrhpr aephseddsr dasppepasp
      181 tigldkktrr kfldlgvtlr rastgksrke kgsnrlsmgs resvegsgrs ggspflpfsw
      241 ftdsgkgsas sgsttsptcs pkhegfspkk sasqestlsd dstppssspk ipsgpwqeak
      301 csypyhtlsq ssdefldepl ppvhhwtsqq vgqwlqslnl eqyaaefaar qvdgpqllql
      361 dgsklkslgl snshdralvk rklkemaaaa ekerkaqeka arqreklrrr eqeakks
//
LOCUS       NP_631960                185 aa            linear   PRI 27-DEC-2022
DEFINITION  homeobox protein TGIF2LY [Homo sapiens].
ACCESSION   NP_631960
VERSION     NP_631960.1
DBSOURCE    REFSEQ: accession NM_139214.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 185)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 185)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   3  (residues 1 to 185)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   4  (residues 1 to 185)
  AUTHORS   Ousati Ashtiani Z, Ayati M, Modarresi MH, Raoofian R, Sabah Goulian
            B, Greene WK and Heidari M.
  TITLE     Association of TGIFLX/Y mRNA expression with prostate cancer
  JOURNAL   Med Oncol 26 (1), 73-77 (2009)
   PUBMED   18663611
  REMARK    GeneRIF: most prostate tumors (73.5%) express at least one of these
            genes (TGIFLX and TGIFLY), although different patterns of mRNA
            expression were observed. These results suggest an association of
            TGIFLX/Y expression with the progression of prostate cancer.
REFERENCE   5  (residues 1 to 185)
  AUTHORS   Aarabi M, Ousati-Ashtiani Z, Nazarian A, Modarressi MH and Heidari
            M.
  TITLE     Association of TGIFLX/Y mRNA expression with azoospermia in
            infertile men
  JOURNAL   Mol Reprod Dev 75 (12), 1761-1766 (2008)
   PUBMED   18384077
  REMARK    GeneRIF: Association of TGIFLX/Y mRNA expression with azoospermia
            in infertile men.(
REFERENCE   6  (residues 1 to 185)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   7  (residues 1 to 185)
  AUTHORS   Blanco-Arias P, Sargent CA and Affara NA.
  TITLE     The human-specific Yp11.2/Xq21.3 homology block encodes a
            potentially functional testis-specific TGIF-like retroposon
  JOURNAL   Mamm Genome 13 (8), 463-468 (2002)
   PUBMED   12226713
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC019058.4 and AF332223.1.
            
            Summary: This gene encodes a member of the TALE/TGIF homeobox
            family of transcription factors. This gene lies within the male
            specific region of chromosome Y, in a block of sequence that is
            thought to be the result of a large X-to-Y transposition. The
            C-terminus of this protein is divergent from that of its chromosome
            X homolog (TGIF2LX), suggesting that this protein may act as a
            regulator of TGIF2LX. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF332223.1, AK292609.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000321217.5/ ENSP00000318502.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..185
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yp11.2"
     Protein         1..185
                     /product="homeobox protein TGIF2LY"
                     /note="TGFB-induced factor 2-like, Y-linked; TGIF-like on
                     the Y; TGFB-induced factor 2-like protein, Y-linked;
                     TGF-beta-induced transcription factor 2-like protein"
                     /calculated_mol_wt=20683
     Region          1..58
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUE0.1)"
     Site            order(51..55,57,77,83,96,98..99,102..103,105..107)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Site            order(53,56,99,102..103,106)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          69..107
                     /region_name="Homeobox_KN"
                     /note="Homeobox KN domain; pfam05920"
                     /db_xref="CDD:428673"
     Region          166..185
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUE0.1)"
     CDS             1..185
                     /gene="TGIF2LY"
                     /gene_synonym="TGIFLY"
                     /coded_by="NM_139214.3:83..640"
                     /db_xref="CCDS:CCDS14775.1"
                     /db_xref="GeneID:90655"
                     /db_xref="HGNC:HGNC:18569"
                     /db_xref="MIM:400025"
ORIGIN      
        1 meaaadgpae tqspvekdsp aktqspaqdt simsrnnadt grvlalpehk kkrkgnlpae
       61 svkilrdwmy khrfkaypse eekqmlsekt nlsllrisnw finarrrilp dmlqqrrndp
      121 iighktgkda hathlqstea svpaksgpvv qtmykacpcg pcqrarcqer snqirsrpla
      181 rsspe
//
LOCUS       NP_001364153            1189 aa            linear   PRI 28-DEC-2022
DEFINITION  plakophilin-4 isoform g [Homo sapiens].
ACCESSION   NP_001364153 XP_011510321
VERSION     NP_001364153.1
DBSOURCE    REFSEQ: accession NM_001377224.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1189)
  AUTHORS   Park SS, Ponce-Balbuena D, Kuick R, Guerrero-Serna G, Yoon J,
            Mellacheruvu D, Conlon KP, Basrur V, Nesvizhskii AI, Jalife J and
            Rual JF.
  TITLE     Kir2.1 Interactome Mapping Uncovers PKP4 as a Modulator of the
            Kir2.1-Regulated Inward Rectifier Potassium Currents
  JOURNAL   Mol Cell Proteomics 19 (9), 1436-1449 (2020)
   PUBMED   32541000
  REMARK    GeneRIF: Kir2.1 Interactome Mapping Uncovers PKP4 as a Modulator of
            the Kir2.1-Regulated Inward Rectifier Potassium Currents.
REFERENCE   2  (residues 1 to 1189)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1189)
  AUTHORS   Sundell GN, Arnold R, Ali M, Naksukpaiboon P, Orts J, Guntert P,
            Chi CN and Ivarsson Y.
  TITLE     Proteome-wide analysis of phospho-regulated PDZ domain interactions
  JOURNAL   Mol Syst Biol 14 (8), e8129 (2018)
   PUBMED   30126976
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1189)
  AUTHORS   Zhao H, Zhang D, Yang L and Wang E.
  TITLE     p0071 interacts with E-cadherin in the cytoplasm so as to promote
            the invasion and metastasis of non-small cell lung cancer
  JOURNAL   Mol Carcinog 57 (1), 89-96 (2018)
   PUBMED   28898462
  REMARK    GeneRIF: Data show that patients with both abnormal expression of
            p0071 and E-cadherin had a statistically significant shorter
            survival than the patients without both abnormal expression.
REFERENCE   5  (residues 1 to 1189)
  AUTHORS   Becher A, Eiseler T, Porzner M, Walther P, Keil R, Bobrovich S,
            Hatzfeld M and Seufferlein T.
  TITLE     The armadillo protein p0071 controls KIF3 motor transport
  JOURNAL   J Cell Sci 130 (19), 3374-3387 (2017)
   PUBMED   28808088
  REMARK    GeneRIF: p0071 is required for directional vesicle movement and
            secretion of different KIF3-transported carriers, thereby
            regulating the transport of intracellular membrane vesicles along
            microtubules.
REFERENCE   6  (residues 1 to 1189)
  AUTHORS   Stahl B, Diehlmann A and Sudhof TC.
  TITLE     Direct interaction of Alzheimer's disease-related presenilin 1 with
            armadillo protein p0071
  JOURNAL   J Biol Chem 274 (14), 9141-9148 (1999)
   PUBMED   10092585
REFERENCE   7  (residues 1 to 1189)
  AUTHORS   Levesque G, Yu G, Nishimura M, Zhang DM, Levesque L, Yu H, Xu D,
            Liang Y, Rogaeva E, Ikeda M, Duthie M, Murgolo N, Wang L,
            VanderVere P, Bayne ML, Strader CD, Rommens JM, Fraser PE and St
            George-Hyslop P.
  TITLE     Presenilins interact with armadillo proteins including
            neural-specific plakophilin-related protein and beta-catenin
  JOURNAL   J Neurochem 72 (3), 999-1008 (1999)
   PUBMED   10037471
REFERENCE   8  (residues 1 to 1189)
  AUTHORS   Bonne S, van Hengel J and van Roy F.
  TITLE     Chromosomal mapping of human armadillo genes belonging to the
            p120(ctn)/plakophilin subfamily
  JOURNAL   Genomics 51 (3), 452-454 (1998)
   PUBMED   9721216
REFERENCE   9  (residues 1 to 1189)
  AUTHORS   Paffenholz R and Franke WW.
  TITLE     Identification and localization of a neurally expressed member of
            the plakoglobin/armadillo multigene family
  JOURNAL   Differentiation 61 (5), 293-304 (1997)
   PUBMED   9342840
REFERENCE   10 (residues 1 to 1189)
  AUTHORS   Hatzfeld M and Nachtsheim C.
  TITLE     Cloning and characterization of a new armadillo family member,
            p0071, associated with the junctional plaque: evidence for a
            subfamily of closely related proteins
  JOURNAL   J Cell Sci 109 (Pt 11), 2767-2778 (1996)
   PUBMED   8937994
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008070.4 and AC005042.2.
            On Dec 18, 2019 this sequence version replaced XP_011510321.1.
            
            Summary: Armadillo-like proteins are characterized by a series of
            armadillo repeats, first defined in the Drosophila 'armadillo' gene
            product, that are typically 42 to 45 amino acids in length. These
            proteins can be divided into subfamilies based on their number of
            repeats, their overall sequence similarity, and the dispersion of
            the repeats throughout their sequences. Members of the
            p120(ctn)/plakophilin subfamily of Armadillo-like proteins,
            including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be
            a component of desmosomal plaque and other adhesion plaques and is
            thought to be involved in regulating junctional plaque organization
            and cadherin function. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Feb 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.213260.1,
                                           SRR14372079.3012322.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1189
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.1"
     Protein         1..1189
                     /product="plakophilin-4 isoform g"
                     /note="catenin 4"
                     /calculated_mol_wt=131522
     Region          1..31
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Site            75
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            84
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            106
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            132
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            136
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            137
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Region          <192..345
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            219
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Site            229
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            234
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            252
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            268
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            271
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            279
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Region          288..308
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Site            312
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Region          321..346
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Site            325
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            335
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            370
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            390
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            401
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            404
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Site            410
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            413
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            420
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            425
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            436
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            475
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            507
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            509
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            512
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Region          515..554
                     /region_name="ARM 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Region          527..552
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Site            order(543,547,551,585,589,593,630,634,638)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          556..595
                     /region_name="Arm"
                     /note="Armadillo/beta-catenin-like repeat; pfam00514"
                     /db_xref="CDD:425727"
     Region          557..596
                     /region_name="ARM 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Region          560..596
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          600..641
                     /region_name="ARM"
                     /note="Armadillo/beta-catenin-like repeats; smart00185"
                     /db_xref="CDD:214547"
     Region          601..641
                     /region_name="ARM 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Region          604..639
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          646..697
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          657..699
                     /region_name="ARM 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Region          703..748
                     /region_name="ARM 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Region          705..746
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          770..807
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Site            773
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Region          812..852
                     /region_name="ARM 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Region          822..852
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          845..>966
                     /region_name="PLN03200"
                     /note="cellulose synthase-interactive protein;
                     Provisional"
                     /db_xref="CDD:215629"
     Region          859..898
                     /region_name="ARM 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Region          862..897
                     /region_name="ARM"
                     /note="Armadillo/beta-catenin-like repeats; smart00185"
                     /db_xref="CDD:214547"
     Region          864..896
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Site            order(887,891,895,933,937,941,979,983)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          903..944
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          946..990
                     /region_name="ARM"
                     /note="Armadillo/beta-catenin-like repeats; smart00185"
                     /db_xref="CDD:214547"
     Region          947..990
                     /region_name="ARM 9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Region          950..985
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Site            1010
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            1014
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            1042
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Region          1055..1083
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99569.2)"
     Site            1088
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            1097
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     Site            1132
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FH0; propagated from
                     UniProtKB/Swiss-Prot (Q99569.2)"
     CDS             1..1189
                     /gene="PKP4"
                     /gene_synonym="p0071"
                     /coded_by="NM_001377224.1:273..3842"
                     /note="isoform g is encoded by transcript variant 12"
                     /db_xref="GeneID:8502"
                     /db_xref="HGNC:HGNC:9026"
                     /db_xref="MIM:604276"
ORIGIN      
        1 mpapeqaslv eegqpqtrqe aastgpgmep ettattilas vkeqelqfqr ltreleverq
       61 ivasqlercr lgaespsias tssteksfpw rstdvpntgv skprvsdavq pnnylirtep
      121 eqgtlyspeq tslherslgn srsstqmnsy sdsgyqeags fhnsqnvska dnrqqhsfig
      181 stnnhvvrns raegqtlvqp svanramrrv ssvpsraqsp syvistgvsp srgslrtslg
      241 sgfgspsvtd prplnpsays sttlpaaraa spysqrpasp tairrigsvt srqtsnpngp
      301 tpqyqttarv gspltltdaq trvaspsqgq vgssspkrsg mtavpqhlgp slqrtvhdme
      361 qfgqqqydiy ermvpprpds ltglrssyas qhsqlgqdlr savspdlhit piyegrtyys
      421 pvyrspnhgt velqgsqtal yrtgsgignl qrtssqrstl tyqrnnyaln ttatyaepyr
      481 piqyrvqecn ynrlqhavpa ddgttrspsi dsiqkdpref awrdpelpev ihmlqhqfps
      541 vqanaaaylq hlcfgdnkvk mevcrlggik hlvdlldhrv levqknacga lrnlvfgkst
      601 denkiamknv ggipallrll rksidaevre lvtgvlwnls scdavkmtii rdalstltnt
      661 vivphsgwnn ssfdddhkik fqtslvlrnt tgclrnlssa geearkqmrs ceglvdslly
      721 vihtcvntsd ydsktvencv ctlrnlsyrl elevpqarll glnelddllg kespskdsep
      781 scwgkkkkkk krtpqedqwd gvgpipglsk spkgvemlwh psvvkpyltl laessnpatl
      841 egsagslqnl sagnwkfaay iraavrkekg lpilvellrm dndrvvssva talrnmaldv
      901 rnkeligkya mrdlvnrlpg gngpsvlsde tmaaiccalh evtsknmena kaladsggie
      961 klvnitkgrg drsslkvvka aaqvlntlwq yrdlrsiykk dgwnqnhfit pvstlerdrf
     1021 kshpslsttn qqmspiiqsv gstssspall girdprseyd rtqppmqyyn sqgdathkgl
     1081 ypgsskpspi yissysspar eqnrrlqhqq lyysqddsnr knfdayrlyl qsphsyedpy
     1141 fddrvhfpas tdystqyglk sttnyvdfys tkrpsyraeq ypgspdswv
//
LOCUS       NP_001116244            1192 aa            linear   PRI 30-DEC-2022
DEFINITION  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2
            isoform PIKE-L [Homo sapiens].
ACCESSION   NP_001116244
VERSION     NP_001116244.1
DBSOURCE    REFSEQ: accession NM_001122772.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1192)
  AUTHORS   Sun M, Sheng H, Wu T, Song J, Sun H, Wang Y, Wang J, Li Z, Zhao H,
            Tan J, Li Y, Chen G, Huang Q, Zhang Y, Lan B, Liu S, Shan C and
            Zhang S.
  TITLE     PIKE-A promotes glioblastoma growth by driving PPP flux through
            increasing G6PD expression mediated by phosphorylation of STAT3
  JOURNAL   Biochem Pharmacol 192, 114736 (2021)
   PUBMED   34411567
  REMARK    GeneRIF: PIKE-A promotes glioblastoma growth by driving PPP flux
            through increasing G6PD expression mediated by phosphorylation of
            STAT3.
REFERENCE   2  (residues 1 to 1192)
  AUTHORS   Yu L, Gui S, Liu Y, Qiu X, Zhang G, Zhang X, Pan J, Fan J, Qi S and
            Qiu B.
  TITLE     Exosomes derived from microRNA-199a-overexpressing mesenchymal stem
            cells inhibit glioma progression by down-regulating AGAP2
  JOURNAL   Aging (Albany NY) 11 (15), 5300-5318 (2019)
   PUBMED   31386624
  REMARK    GeneRIF: Exosomes derived from microRNA-199a-overexpressing
            mesenchymal stem cells inhibit glioma progression by
            down-regulating AGAP2.
REFERENCE   3  (residues 1 to 1192)
  AUTHORS   Navarro-Corcuera A, Lopez-Zabalza MJ, Martinez-Irujo JJ,
            Alvarez-Sola G, Avila MA, Iraburu MJ, Ansorena E and Montiel-Duarte
            C.
  TITLE     Role of AGAP2 in the profibrogenic effects induced by TGFbeta in
            LX-2 hepatic stellate cells
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1866 (4), 673-685 (2019)
   PUBMED   30660615
  REMARK    GeneRIF: The role of AGAP2 in the pro-fibrogenic phenotype of
            hepatic stellate cells in response to TGFbeta.
REFERENCE   4  (residues 1 to 1192)
  AUTHORS   Doush Y, Surani AA, Navarro-Corcuera A, McArdle S, Billett EE and
            Montiel-Duarte C.
  TITLE     SP1 and RARalpha regulate AGAP2 expression in cancer
  JOURNAL   Sci Rep 9 (1), 390 (2019)
   PUBMED   30674964
  REMARK    GeneRIF: chromatin immunoprecipitation studies revealed the
            presence of RARalpha, RXRalpha and the lysine acetyl transferase
            PCAF in AGAP2 promoter.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1192)
  AUTHORS   Qi Q, Kang SS, Zhang S, Pham C, Fu H, Brat DJ and Ye K.
  TITLE     Co-amplification of phosphoinositide 3-kinase enhancer A and
            cyclin-dependent kinase 4 triggers glioblastoma progression
  JOURNAL   Oncogene 36 (32), 4562-4572 (2017)
   PUBMED   28368413
  REMARK    GeneRIF: these findings support that PIKE amplification or
            overexpression coordinately acts with CDK4 to drive glioblastoma
            tumorigenesis.
REFERENCE   6  (residues 1 to 1192)
  AUTHORS   Nie Z, Stanley KT, Stauffer S, Jacques KM, Hirsch DS, Takei J and
            Randazzo PA.
  TITLE     AGAP1, an endosome-associated, phosphoinositide-dependent
            ADP-ribosylation factor GTPase-activating protein that affects
            actin cytoskeleton
  JOURNAL   J Biol Chem 277 (50), 48965-48975 (2002)
   PUBMED   12388557
REFERENCE   7  (residues 1 to 1192)
  AUTHORS   Ye K, Aghdasi B, Luo HR, Moriarity JL, Wu FY, Hong JJ, Hurt KJ, Bae
            SS, Suh PG and Snyder SH.
  TITLE     Phospholipase C gamma 1 is a physiological guanine nucleotide
            exchange factor for the nuclear GTPase PIKE
  JOURNAL   Nature 415 (6871), 541-544 (2002)
   PUBMED   11823862
REFERENCE   8  (residues 1 to 1192)
  AUTHORS   Ye K, Hurt KJ, Wu FY, Fang M, Luo HR, Hong JJ, Blackshaw S, Ferris
            CD and Snyder SH.
  TITLE     Pike. A nuclear gtpase that enhances PI3kinase activity and is
            regulated by protein 4.1N
  JOURNAL   Cell 103 (6), 919-930 (2000)
   PUBMED   11136977
REFERENCE   9  (residues 1 to 1192)
  AUTHORS   Elkahloun AG, Krizman DB, Wang Z, Hofmann TA, Roe B and Meltzer PS.
  TITLE     Transcript mapping in a 46-kb sequenced region at the core of
            12q13.3 amplification in human cancers
  JOURNAL   Genomics 42 (2), 295-301 (1997)
   PUBMED   9192850
REFERENCE   10 (residues 1 to 1192)
  AUTHORS   Yamane,O., Hayashi,T., Sako,S., Kihara,T. and Koyama,M.
  TITLE     Studies on hemorrhagic diathesis of experimental bovine bracken
            poisoning. I. Detection of circulating anticoagulants
  JOURNAL   Nihon Juigaku Zasshi 37 (4), 335-340 (1975)
   PUBMED   1238857
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025165.27.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene belongs to the centaurin
            gamma-like family. It mediates anti-apoptotic effects of nerve
            growth factor by activating nuclear phosphoinositide 3-kinase. It
            is overexpressed in cancer cells, and promotes cancer cell
            invasion. Alternatively spliced transcript variants encoding
            different isoforms have been described for this gene. [provided by
            RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (PIKE-L). This isoform is thought to participate in the prevention
            of neuronal apoptosis by enhancing nuclear phosphoinositide
            3-kinase activity (PMID:14528310).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY128689.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000547588.6/ ENSP00000449241.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1192
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.1"
     Protein         1..1192
                     /product="arf-GAP with GTPase, ANK repeat and PH
                     domain-containing protein 2 isoform PIKE-L"
                     /note="Arf GAP with GTP-binding protein-like, ANK repeat
                     and PH domains 2; centaurin, gamma 1; phosphoinositide
                     3-kinase enhancer; GTP-binding and GTPase activating
                     protein 2; arf-GAP with GTPase, ANK repeat and PH
                     domain-containing protein 2; phosphatidylinositol 3-kinase
                     enhancer"
                     /calculated_mol_wt=124460
     Region          1..23
                     /region_name="Interaction with EPB41L1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99490.2)"
     Region          24..377
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99490.2)"
     Region          78..>172
                     /region_name="Drf_FH1"
                     /note="Formin Homology Region 1; pfam06346"
                     /db_xref="CDD:428897"
     Site            113
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UHD9; propagated from
                     UniProtKB/Swiss-Prot (Q99490.2)"
     Site            128
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UHD9; propagated from
                     UniProtKB/Swiss-Prot (Q99490.2)"
     Site            149
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UHD9; propagated from
                     UniProtKB/Swiss-Prot (Q99490.2)"
     Region          180..225
                     /region_name="Interactions with HOMER1 and NF2.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99490.2)"
     Region          267..390
                     /region_name="Interaction with PLCG1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99490.2)"
     Region          405..572
                     /region_name="G domain"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99490.2)"
     Region          407..566
                     /region_name="Centaurin_gamma"
                     /note="Centaurin gamma (CENTG) GTPase; cd04103"
                     /db_xref="CDD:133303"
     Site            413..420
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:133303"
     Site            order(415..421,459,462,515..516,518,548..549)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:133303"
     Site            434..442
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:133303"
     Site            437
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:133303"
     Site            459..462
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:133303"
     Site            461..474
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:133303"
     Site            515..518
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:133303"
     Site            548..550
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:133303"
     Region          582..619
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99490.2)"
     Region          634..673
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99490.2)"
     Site            638
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q99490.2)"
     Region          674..914
                     /region_name="PH_AGAP"
                     /note="Arf-GAP with GTPase, ANK repeat and PH
                     domain-containing protein Pleckstrin homology (PH) domain;
                     cd01250"
                     /db_xref="CDD:241281"
     Site            682
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:16841086; propagated from
                     UniProtKB/Swiss-Prot (Q99490.2)"
     Site            750
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UHD9; propagated from
                     UniProtKB/Swiss-Prot (Q99490.2)"
     Site            752
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UHD9; propagated from
                     UniProtKB/Swiss-Prot (Q99490.2)"
     Region          769..854
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99490.2)"
     Site            774
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:16841086; propagated from
                     UniProtKB/Swiss-Prot (Q99490.2)"
     Site            808
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UHD9; propagated from
                     UniProtKB/Swiss-Prot (Q99490.2)"
     Site            927
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UHD9; propagated from
                     UniProtKB/Swiss-Prot (Q99490.2)"
     Region          932..1039
                     /region_name="ArfGap_AGAP"
                     /note="ArfGAP with GTPase domain, ANK repeat and PH
                     domains; cd08836"
                     /db_xref="CDD:350065"
     Site            order(946,949,966,969,974)
                     /site_type="other"
                     /note="arginine finger"
                     /db_xref="CDD:350065"
     Site            order(946,949,966,969)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:350065"
     Site            985
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UHD9; propagated from
                     UniProtKB/Swiss-Prot (Q99490.2)"
     Region          1058..1148
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          1058..1088
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(1059..1060,1063..1065,1067..1068,1072,1075,1088,
                     1090,1092,1096..1097,1100..1102,1104..1105,1109,1112,1121,
                     1123,1125,1129..1130,1133..1135,1137..1138,1142,1145)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          1090..1121
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1090..1119
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99490.2)"
     Region          1123..1152
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99490.2)"
     Region          1123..1148
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1153..1192
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99490.2)"
     Site            1178
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8CGU4; propagated from
                     UniProtKB/Swiss-Prot (Q99490.2)"
     CDS             1..1192
                     /gene="AGAP2"
                     /gene_synonym="CENTG1; GGAP2; PIKE"
                     /coded_by="NM_001122772.3:497..4075"
                     /note="isoform PIKE-L is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS44932.1"
                     /db_xref="GeneID:116986"
                     /db_xref="HGNC:HGNC:16921"
                     /db_xref="MIM:605476"
ORIGIN      
        1 msrgagalqr rtttylislt lvklesvppp ppspsaaaag aagargsetg dpgsprgaee
       61 pgkkrherlf hrqdalwist ssagtggaep palspapasp arpvspapgr rlslwavppg
      121 pplsgglspd pkpggaptss rrpllsspsw ggpepegrag ggipgsssph pgtgsrrlkv
      181 appppapkpc ktvttsgaka gggkgagsrl swpesegkpr vkgskssagt gasvsaaata
      241 aaaggggsta stsggvgaga gargklsprk gksktldnsd lhpgppagsp ppltlpptps
      301 patavtaasa qppgpappit leppapglkr greggrastr drkmlkfisg iftkstggpp
      361 gsgplpgpps lssgsgsrel lgaelraspk avinsqewtl srsipelrlg vlgdarsgks
      421 slihrfltgs yqvlektese qykkemlvdg qthlvliree agapdakfsg wadavifvfs
      481 ledensfqav srlhgqlssl rgegrgglal alvgtqdris assprvvgda raralcadmk
      541 rcsyyetcat yglnvdrvfq evaqkvvtlr kqqqllaack slpsspshsa astpvagqas
      601 ngghtsdyss slpsspnvgh relraeaaav aglstpgslh raakrrtslf anrrgsdsek
      661 rsldsrgett gsgraipikq sfllkrsgns lnkewkkkyv tlssngflly hpsindyihs
      721 thgkemdllr ttvkvpgkrp praisafgps asinglvkdm stvqmgegle attpmpspsp
      781 spsslqpppd qtskhllkpd rnlaralstd ctpsgdlspl srepppspmv kkqrrkkltt
      841 psktegsagq aeakrkmwkl ksfgslrniy kaeenfefli vsstgqtwhf eaasfeerda
      901 wvqaiesqil aslqccessk vklrtdsqse avaiqairna kgnsicvdcg apnptwasln
      961 lgaliciecs gihrnlgthl srvrsldldd wpreltlvlt aigndtanrv wesdtrgrak
     1021 psrdssreer eswirakyeq llflaplsts eeplgrqlwa avqaqdvatv llllaharhg
     1081 pldtsvedpq lrsplhlaae lahvvitqll lwygadvaar daqgrtalfy arqagsqlca
     1141 dillqhgcpg eggsaattps aattpsitat psprrrssaa svgradapva lv
//
LOCUS       NP_001269657             442 aa            linear   PRI 30-DEC-2022
DEFINITION  2-phosphoxylose phosphatase 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001269657 XP_005247961
VERSION     NP_001269657.1
DBSOURCE    REFSEQ: accession NM_001282728.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 442)
  AUTHORS   Koike T, Izumikawa T, Sato B and Kitagawa H.
  TITLE     Identification of phosphatase that dephosphorylates xylose in the
            glycosaminoglycan-protein linkage region of proteoglycans
  JOURNAL   J Biol Chem 289 (10), 6695-6708 (2014)
   PUBMED   24425863
  REMARK    GeneRIF: this study describes the cloning of a human cDNA encoding
            a novel protein designated 2-phosphoxylose phosphatase capable of
            dephosphorylating this Xyl residue.
REFERENCE   2  (residues 1 to 442)
  AUTHORS   Need AC, Attix DK, McEvoy JM, Cirulli ET, Linney KL, Hunt P, Ge D,
            Heinzen EL, Maia JM, Shianna KV, Weale ME, Cherkas LF, Clement G,
            Spector TD, Gibson G and Goldstein DB.
  TITLE     A genome-wide study of common SNPs and CNVs in cognitive
            performance in the CANTAB
  JOURNAL   Hum Mol Genet 18 (23), 4650-4661 (2009)
   PUBMED   19734545
REFERENCE   3  (residues 1 to 442)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CX762355.1, AK297790.1, AK074331.1, AL137529.1, BX647621.1 and
            AC117383.4.
            On Sep 18, 2013 this sequence version replaced XP_005247961.1.
            
            Transcript Variant: This variant (3) differs in its 5' UTR and
            initiates translation at a downstream start codon, compared to
            variant 1. The encoded isoform (2) has a shorter N-terminus,
            compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK297790.1, SRR14372080.2567971.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..442
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q23"
     Protein         1..442
                     /product="2-phosphoxylose phosphatase 1 isoform 2"
                     /EC_number="3.1.3.2"
                     /note="acid phosphatase-like protein 2; epididymis luminal
                     protein 124; xylosyl phosphatase; acid phosphatase-like 2"
                     /calculated_mol_wt=50854
     Region          49..386
                     /region_name="HP"
                     /note="Histidine phosphatase domain found in a
                     functionally diverse set of proteins, mostly phosphatases;
                     contains a His residue which is phosphorylated during the
                     reaction; cl11399"
                     /db_xref="CDD:448243"
     Site            order(58..59,62,171,340..341)
                     /site_type="active"
                     /note="catalytic core [active]"
                     /db_xref="CDD:132717"
     CDS             1..442
                     /gene="PXYLP1"
                     /gene_synonym="ACPL2; HEL124; XYLP"
                     /coded_by="NM_001282728.2:353..1681"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS63797.1"
                     /db_xref="GeneID:92370"
                     /db_xref="HGNC:HGNC:26303"
                     /db_xref="MIM:619732"
ORIGIN      
        1 mssksrkrim pdpvteppvt dpvyeallyc nipsvaersm eghaphhfkl vsvhvfirhg
       61 dryplyvipk tkrpeidctl vanrkpyhpk leafishmsk gsgasfespl nslplypnhp
      121 lcemgeltqt gvvqhlqngq llrdiylkkh kllpndwsad qlylettgks rtlqsglall
      181 ygflpdfdwk kiyfrhqpsa lfcsgscycp vrnqylekeq rrqyllrlkn sqlektygem
      241 akivdvptkq lraanpidsm lchfchnvsf pctrngcvdm ehfkvikthq iedererrek
      301 klyfgysllg ahpilnqtig rmqrategrk eelfalysah dvtlspvlsa lglsearfpr
      361 faarlifelw qdrekpsehs vrilyngvdv tfhtsfcqdh hkrspkpmcp lenlvrfvkr
      421 dmfvalggsg tnyydachre gf
//
LOCUS       NP_001340198             178 aa            linear   PRI 22-JAN-2023
DEFINITION  CYFIP-related Rac1 interactor B isoform 2 [Homo sapiens].
ACCESSION   NP_001340198
VERSION     NP_001340198.1
DBSOURCE    REFSEQ: accession NM_001353269.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 178)
  AUTHORS   Xi Y, Zhang T, Sun W, Liang R, Ganesh S and Chen H.
  TITLE     GOLM1 and FAM49B: Potential Biomarkers in HNSCC Based on
            Bioinformatics and Immunohistochemical Analysis
  JOURNAL   Int J Mol Sci 23 (23), 15433 (2022)
   PUBMED   36499755
  REMARK    GeneRIF: GOLM1 and FAM49B: Potential Biomarkers in HNSCC Based on
            Bioinformatics and Immunohistochemical Analysis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 178)
  AUTHORS   Yelland T, Le AH, Nikolaou S, Insall R, Machesky L and Ismail S.
  TITLE     Structural Basis of CYRI-B Direct Competition with Scar/WAVE
            Complex for Rac1
  JOURNAL   Structure 29 (3), 226-237 (2021)
   PUBMED   33217330
  REMARK    GeneRIF: Structural Basis of CYRI-B Direct Competition with
            Scar/WAVE Complex for Rac1.
REFERENCE   3  (residues 1 to 178)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 178)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 178)
  AUTHORS   Zhang Y, Du P, Li Y, Zhu Q, Song X, Liu S, Hao J, Liu L, Liu F, Hu
            Y, Jiang L, Ma Q, Lu W and Liu Y.
  TITLE     TASP1 Promotes Gallbladder Cancer Cell Proliferation and Metastasis
            by Up-regulating FAM49B via PI3K/AKT Pathway
  JOURNAL   Int J Biol Sci 16 (5), 739-751 (2020)
   PUBMED   32071545
  REMARK    GeneRIF: TASP1 Promotes Gallbladder Cancer Cell Proliferation and
            Metastasis by Up-regulating FAM49B via PI3K/AKT Pathway.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 178)
  AUTHORS   Nalls MA, Couper DJ, Tanaka T, van Rooij FJ, Chen MH, Smith AV,
            Toniolo D, Zakai NA, Yang Q, Greinacher A, Wood AR, Garcia M,
            Gasparini P, Liu Y, Lumley T, Folsom AR, Reiner AP, Gieger C, Lagou
            V, Felix JF, Volzke H, Gouskova NA, Biffi A, Doring A, Volker U,
            Chong S, Wiggins KL, Rendon A, Dehghan A, Moore M, Taylor K, Wilson
            JG, Lettre G, Hofman A, Bis JC, Pirastu N, Fox CS, Meisinger C,
            Sambrook J, Arepalli S, Nauck M, Prokisch H, Stephens J, Glazer NL,
            Cupples LA, Okada Y, Takahashi A, Kamatani Y, Matsuda K, Tsunoda T,
            Tanaka T, Kubo M, Nakamura Y, Yamamoto K, Kamatani N, Stumvoll M,
            Tonjes A, Prokopenko I, Illig T, Patel KV, Garner SF, Kuhnel B,
            Mangino M, Oostra BA, Thein SL, Coresh J, Wichmann HE, Menzel S,
            Lin J, Pistis G, Uitterlinden AG, Spector TD, Teumer A,
            Eiriksdottir G, Gudnason V, Bandinelli S, Frayling TM, Chakravarti
            A, van Duijn CM, Melzer D, Ouwehand WH, Levy D, Boerwinkle E,
            Singleton AB, Hernandez DG, Longo DL, Soranzo N, Witteman JC, Psaty
            BM, Ferrucci L, Harris TB, O'Donnell CJ and Ganesh SK.
  TITLE     Multiple loci are associated with white blood cell phenotypes
  JOURNAL   PLoS Genet 7 (6), e1002113 (2011)
   PUBMED   21738480
REFERENCE   7  (residues 1 to 178)
  AUTHORS   Buschow SI, van Balkom BW, Aalberts M, Heck AJ, Wauben M and
            Stoorvogel W.
  TITLE     MHC class II-associated proteins in B-cell exosomes and potential
            functional implications for exosome biogenesis
  JOURNAL   Immunol Cell Biol 88 (8), 851-856 (2010)
   PUBMED   20458337
REFERENCE   8  (residues 1 to 178)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   9  (residues 1 to 178)
  AUTHORS   Melzer D, Perry JR, Hernandez D, Corsi AM, Stevens K, Rafferty I,
            Lauretani F, Murray A, Gibbs JR, Paolisso G, Rafiq S, Simon-Sanchez
            J, Lango H, Scholz S, Weedon MN, Arepalli S, Rice N, Washecka N,
            Hurst A, Britton A, Henley W, van de Leemput J, Li R, Newman AB,
            Tranah G, Harris T, Panicker V, Dayan C, Bennett A, McCarthy MI,
            Ruokonen A, Jarvelin MR, Guralnik J, Bandinelli S, Frayling TM,
            Singleton A and Ferrucci L.
  TITLE     A genome-wide association study identifies protein quantitative
            trait loci (pQTLs)
  JOURNAL   PLoS Genet 4 (5), e1000072 (2008)
   PUBMED   18464913
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 178)
  AUTHORS   Petroziello J, Yamane A, Westendorf L, Thompson M, McDonagh C,
            Cerveny C, Law CL, Wahl A and Carter P.
  TITLE     Suppression subtractive hybridization and expression profiling
            identifies a unique set of genes overexpressed in non-small-cell
            lung cancer
  JOURNAL   Oncogene 23 (46), 7734-7745 (2004)
   PUBMED   15334068
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131568.5 and AC022973.5.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.125411.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..178
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.21"
     Protein         1..178
                     /product="CYFIP-related Rac1 interactor B isoform 2"
                     /note="protein FAM49B; FAM49B/JPH1 fusion; MTSS1/FAM49B
                     fusion; family with sequence similarity 49 member B"
                     /calculated_mol_wt=20062
     Region          <1..174
                     /region_name="DUF1394"
                     /note="Protein of unknown function (DUF1394); pfam07159"
                     /db_xref="CDD:429323"
     CDS             1..178
                     /gene="CYRIB"
                     /gene_synonym="BM-009; CYRI; CYRI-B; FAM49B; L1"
                     /coded_by="NM_001353269.1:464..1000"
                     /note="isoform 2 is encoded by transcript variant 31"
                     /db_xref="CCDS:CCDS83327.1"
                     /db_xref="GeneID:51571"
                     /db_xref="HGNC:HGNC:25216"
                     /db_xref="MIM:617978"
ORIGIN      
        1 mtnpaiqndf syyrrtlsrm rinnvpaege nevnnelanr mslfyaeatp mlktlsdatt
       61 kfvsenknlp ienttdclst masvcrvmle tpeyrsrftn eetvsfclrv mvgviilydh
      121 vhpvgafakt skidmkgcik vlkdqppnsv egllnalryt tkhlndetts kqiksmlq
//
LOCUS       NP_001381741             894 aa            linear   PRI 07-FEB-2023
DEFINITION  interleukin enhancer-binding factor 3 isoform a [Homo sapiens].
ACCESSION   NP_001381741
VERSION     NP_001381741.1
DBSOURCE    REFSEQ: accession NM_001394812.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 894)
  AUTHORS   Qiu J, Wu X, Luo Y, Yao Y, Zhang X, Pan B, Wang X and Tang N.
  TITLE     Prognostic and immunotherapeutic predictive value of interleukin
            enhancer-binding factor 3 in hepatocellular carcinoma: Integrated
            bioinformatics and experimental analysis
  JOURNAL   Gene 856, 147132 (2023)
   PUBMED   36566982
  REMARK    GeneRIF: Prognostic and immunotherapeutic predictive value of
            interleukin enhancer-binding factor 3 in hepatocellular carcinoma:
            Integrated bioinformatics and experimental analysis.
REFERENCE   2  (residues 1 to 894)
  AUTHORS   Tan J, Sun M, Yin J, Zhou Q, Zhao R, Chen Q, Sun H, Jiang C, Li S
            and He Y.
  TITLE     Hsa_circ_0005050 interacts with ILF3 and affects cell apoptosis and
            proliferation by disrupting the balance between p53 and p65
  JOURNAL   Chem Biol Interact 368, 110208 (2022)
   PUBMED   36208777
  REMARK    GeneRIF: Hsa_circ_0005050 interacts with ILF3 and affects cell
            apoptosis and proliferation by disrupting the balance between p53
            and p65.
REFERENCE   3  (residues 1 to 894)
  AUTHORS   Huang Y, Zheng Y, Yao L, Qiao F, Hou Y, Hu X, Li D and Shao Z.
  TITLE     RNA binding protein POP7 regulates ILF3 mRNA stability and
            expression to promote breast cancer progression
  JOURNAL   Cancer Sci 113 (11), 3801-3813 (2022)
   PUBMED   35579257
  REMARK    GeneRIF: RNA binding protein POP7 regulates ILF3 mRNA stability and
            expression to promote breast cancer progression.
REFERENCE   4  (residues 1 to 894)
  AUTHORS   Grasso G, Akkawi C, Franckhauser C, Nait-Saidi R, Bello M, Barbier
            J and Kiernan R.
  TITLE     NF90 interacts with components of RISC and modulates association of
            Ago2 with mRNA
  JOURNAL   BMC Biol 20 (1), 194 (2022)
   PUBMED   36050755
  REMARK    GeneRIF: NF90 interacts with components of RISC and modulates
            association of Ago2 with mRNA.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 894)
  AUTHORS   Chen G, Yang Y, Wu QJ, Cao L, Ruan W, Shao C, Jiang L, Tang P, Ma
            S, Jiang A, Wang Z, Wu K, Zhang QC, Fu XD and Zhou Y.
  TITLE     ILF3 represses repeat-derived microRNAs targeting RIG-I mediated
            type I interferon response
  JOURNAL   J Mol Biol 434 (7), 167469 (2022)
   PUBMED   35120969
  REMARK    GeneRIF: ILF3 represses repeat-derived microRNAs targeting RIG-I
            mediated type I interferon response.
REFERENCE   6  (residues 1 to 894)
  AUTHORS   Marcoulatos P, Avgerinos E, Tsantzalos DV and Vamvakopoulos NC.
  TITLE     Mapping interleukin enhancer binding factor 3 gene (ILF3) to human
            chromosome 19 (19q11-qter and 19p11-p13.1) by polymerase chain
            reaction amplification of human-rodent somatic cell hybrid DNA
            templates
  JOURNAL   J Interferon Cytokine Res 18 (5), 351-355 (1998)
   PUBMED   9620363
REFERENCE   7  (residues 1 to 894)
  AUTHORS   Ting NS, Kao PN, Chan DW, Lintott LG and Lees-Miller SP.
  TITLE     DNA-dependent protein kinase interacts with antigen receptor
            response element binding proteins NF90 and NF45
  JOURNAL   J Biol Chem 273 (4), 2136-2145 (1998)
   PUBMED   9442054
REFERENCE   8  (residues 1 to 894)
  AUTHORS   Matsumoto-Taniura N, Pirollet F, Monroe R, Gerace L and Westendorf
            JM.
  TITLE     Identification of novel M phase phosphoproteins by expression
            cloning
  JOURNAL   Mol Biol Cell 7 (9), 1455-1469 (1996)
   PUBMED   8885239
REFERENCE   9  (residues 1 to 894)
  AUTHORS   Kao PN, Chen L, Brock G, Ng J, Kenny J, Smith AJ and Corthesy B.
  TITLE     Cloning and expression of cyclosporin A- and FK506-sensitive
            nuclear factor of activated T-cells: NF45 and NF90
  JOURNAL   J Biol Chem 269 (32), 20691-20699 (1994)
   PUBMED   7519613
REFERENCE   10 (residues 1 to 894)
  AUTHORS   St Johnston D, Brown NH, Gall JG and Jantsch M.
  TITLE     A conserved double-stranded RNA-binding domain
  JOURNAL   Proc Natl Acad Sci U S A 89 (22), 10979-10983 (1992)
   PUBMED   1438302
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011475.6.
            
            Summary: This gene encodes a double-stranded RNA (dsRNA) binding
            protein that complexes with other proteins, dsRNAs, small noncoding
            RNAs, and mRNAs to regulate gene expression and stabilize mRNAs.
            This protein (NF90, ILF3) forms a heterodimer with a 45 kDa
            transcription factor (NF45, ILF2) required for T-cell expression of
            interleukin 2. This complex has been shown to affect the
            redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45
            or NF90 protein retards cell growth, possibly by inhibition of mRNA
            stabilization. In contrast, an isoform (NF110) of this gene that is
            predominantly restricted to the nucleus has only minor effects on
            cell growth when its levels are reduced. Alternative splicing
            results in multiple transcript variants encoding distinct
            isoforms.[provided by RefSeq, Dec 2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.3685806.1,
                                           SRR14038192.1041504.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..894
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     Protein         1..894
                     /product="interleukin enhancer-binding factor 3 isoform a"
                     /note="M-phase phosphoprotein 4; nuclear factor of
                     activated T-cells, 90 kD; translational control protein
                     80; double-stranded RNA-binding protein, 76 kD; nuclear
                     factor associated with dsRNA; dsRNA binding protein
                     NFAR-2/MPP4; nuclear factor of activated T-cells 90 kDa;
                     interleukin enhancer binding factor 3, 90kD; nuclear
                     factor of activated T-cells 110 kDa; M phase
                     phosphoprotein 4, nuclear factor associated with DS RNA;
                     interleukin enhancer binding factor 3, 90kDa"
                     /calculated_mol_wt=95208
     Region          50..86
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12906.3)"
     Site            62
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q12906.3)"
     Region          88..342
                     /region_name="DZF"
                     /note="domain in DSRM or ZnF_C2H2 domain containing
                     proteins; smart00572"
                     /db_xref="CDD:128842"
     Site            100
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q12906.3)"
     Site            188
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PKR.
                     /evidence=ECO:0000269|PubMed:21123651; propagated from
                     UniProtKB/Swiss-Prot (Q12906.3)"
     Site            190
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q12906.3)"
     Site            315
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PKR.
                     /evidence=ECO:0000269|PubMed:21123651; propagated from
                     UniProtKB/Swiss-Prot (Q12906.3)"
     Region          363..401
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12906.3)"
     Region          371..389
                     /region_name="Bipartite nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12906.3)"
     Site            382
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q12906.3)"
     Site            384
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q12906.3)"
     Region          399..470
                     /region_name="DSRM_ILF3_rpt1"
                     /note="first double-stranded RNA binding motif of
                     interleukin enhancer-binding factor 3 (ILF3) and similar
                     proteins; cd19910"
                     /db_xref="CDD:380739"
     Site            order(403,406..407,410..411,413,427..428,430,432,449..451,
                     454)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:380739"
     Site            460
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q12906.3)"
     Region          466..524
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12906.3)"
     Site            476
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q12906.3)"
     Site            477
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q12906.3)"
     Site            482
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q12906.3)"
     Region          520..591
                     /region_name="DSRM_ILF3_rpt2"
                     /note="second double-stranded RNA binding motif of
                     interleukin enhancer-binding factor 3 (ILF3) and similar
                     proteins; cd19912"
                     /db_xref="CDD:380741"
     Site            order(527,529..530,533,546,549..551,555,571..574)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:380741"
     Site            592
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q12906.3)"
     Region          609..894
                     /region_name="Interaction with PRMT1.
                     /evidence=ECO:0000269|PubMed:10749851"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12906.3)"
     Region          625..660
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12906.3)"
     Region          718..894
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12906.3)"
     Site            792
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q12906.3)"
     Site            810
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q12906.3)"
     Site            812
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q12906.3)"
     Site            816
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q12906.3)"
     CDS             1..894
                     /gene="ILF3"
                     /gene_synonym="CBTF; DRBF; DRBP76; MMP4; MPHOSPH4; MPP4;
                     MPP4110; NF-AT-90; NF110; NF110b; NF90; NF90a; NF90b;
                     NF90c; NF90ctv; NFAR; NFAR-1; NFAR-2; NFAR110; NFAR2;
                     NFAR90; TCP110; TCP80"
                     /coded_by="NM_001394812.1:174..2858"
                     /note="isoform a is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS12246.1"
                     /db_xref="GeneID:3609"
                     /db_xref="HGNC:HGNC:6038"
                     /db_xref="MIM:603182"
ORIGIN      
        1 mrpmrifvnd drhvmakhss vyptqeelea vqnmvshter alkavsdwid eqekgsseqa
       61 esdnmdvppe ddskegageq ktehmtrtlr gvmrvglvak glllkgdldl elvllckekp
      121 ttalldkvad nlaiqlaavt edkyeilqsv ddaaiviknt kepplsltih ltspvvreem
      181 ekvlagetls vndppdvldr qkclaalasl rhakwfqara nglkscvivi rvlrdlctrv
      241 ptwgplrgwp lellceksig tanrpmgage alrrvlecla sgivmpdgsg iydpcekeat
      301 daighldrqq reditqsaqh alrlaafgql hkvlgmdplp skmpkkpkne npvdytvqip
      361 psttyaitpm krpmeedgee kspskkkkki qkkeekaepp qamnalmrln qlkpglqykl
      421 vsqtgpvhap iftmsvevdg nsfeasgpsk ktaklhvavk vlqdmglptg aegrdsskge
      481 dsaeeteakp avvapapvve avstpsaafp sdataeqgpi ltkhgknpvm elnekrrglk
      541 yelisetggs hdkrfvmeve vdgqkfqgag snkkvakaya alaaleklfp dtplaldank
      601 kkrapvpvrg gpkfaakphn pgfgmggpmh nevppppnlr grgrggsirg rgrgrgfgga
      661 nhggymnaga gygsygyggn satagysqfy sngghsgnas gggggggggs sgygsyyqgd
      721 nynspvppkh agkkqphggq qkpsygsgyq shqgqqqsyn qspysnygpp qgkqkgynhg
      781 qgsysysnsy nspgggggsd ynyeskfnys gsggrsggns ygsggasynp gshggygggs
      841 gggssyqgkq ggysqsnyns pgsgqnysgp pssyqssqgg ygrnadhsmn yqyr
//
LOCUS       NP_001358981             553 aa            linear   PRI 19-FEB-2023
DEFINITION  heterochromatin protein 1-binding protein 3 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001358981
VERSION     NP_001358981.1
DBSOURCE    REFSEQ: accession NM_001372052.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 553)
  AUTHORS   Yu T, Zhou F, Tian W, Xu R, Wang B, Zeng A, Zhou Z, Li M, Wang Y
            and Zhang J.
  TITLE     EZH2 interacts with HP1BP3 to epigenetically activate WNT7B that
            promotes temozolomide resistance in glioblastoma
  JOURNAL   Oncogene 42 (6), 461-470 (2023)
   PUBMED   36517590
  REMARK    GeneRIF: EZH2 interacts with HP1BP3 to epigenetically activate
            WNT7B that promotes temozolomide resistance in glioblastoma.
REFERENCE   2  (residues 1 to 553)
  AUTHORS   Oshikawa K, Matsumoto M, Kodama M, Shimizu H and Nakayama KI.
  TITLE     A fail-safe system to prevent oncogenesis by senescence is targeted
            by SV40 small T antigen
  JOURNAL   Oncogene 39 (10), 2170-2186 (2020)
   PUBMED   31819167
  REMARK    GeneRIF: A fail-safe system to prevent oncogenesis by senescence is
            targeted by SV40 small T antigen.
REFERENCE   3  (residues 1 to 553)
  AUTHORS   Liu H, Liang C, Kollipara RK, Matsui M, Ke X, Jeong BC, Wang Z, Yoo
            KS, Yadav GP, Kinch LN, Grishin NV, Nam Y, Corey DR, Kittler R and
            Liu Q.
  TITLE     HP1BP3, a Chromatin Retention Factor for Co-transcriptional
            MicroRNA Processing
  JOURNAL   Mol Cell 63 (3), 420-432 (2016)
   PUBMED   27425409
  REMARK    GeneRIF: HP1BP3 promotes co-transcriptional miRNA processing via
            chromatin retention of nascent pri-miRNA transcripts.
REFERENCE   4  (residues 1 to 553)
  AUTHORS   Osborne L, Clive M, Kimmel M, Gispen F, Guintivano J, Brown T, Cox
            O, Judy J, Meilman S, Braier A, Beckmann MW, Kornhuber J, Fasching
            PA, Goes F, Payne JL, Binder EB and Kaminsky Z.
  TITLE     Replication of Epigenetic Postpartum Depression Biomarkers and
            Variation with Hormone Levels
  JOURNAL   Neuropsychopharmacology 41 (6), 1648-1658 (2016)
   PUBMED   26503311
  REMARK    GeneRIF: DNA methylation at early antenatal time points associated
            with changes in estradiol and allopregnanolone and postpartum
            depression
REFERENCE   5  (residues 1 to 553)
  AUTHORS   Garfinkel BP, Arad S, Le PT, Bustin M, Rosen CJ, Gabet Y and Orly
            J.
  TITLE     Proportionate Dwarfism in Mice Lacking Heterochromatin Protein 1
            Binding Protein 3 (HP1BP3) Is Associated With Alterations in the
            Endocrine IGF-1 Pathway
  JOURNAL   Endocrinology 156 (12), 4558-4570 (2015)
   PUBMED   26402843
  REMARK    GeneRIF: HP1BP3 regulates hepatic expression of IGF1 and its
            binding proteins in mice, thus modulating the endocrine IGF1
            pathway.
REFERENCE   6  (residues 1 to 553)
  AUTHORS   Dutta B, Ren Y, Hao P, Sim KH, Cheow E, Adav S, Tam JP and Sze SK.
  TITLE     Profiling of the Chromatin-associated Proteome Identifies HP1BP3 as
            a Novel Regulator of Cell Cycle Progression
  JOURNAL   Mol Cell Proteomics 13 (9), 2183-2197 (2014)
   PUBMED   24830416
  REMARK    GeneRIF: HP1BP3 protein maintains heterochromatin integrity during
            G1-S progression and regulates the duration of G1 phase to
            critically influence cell proliferative capacity.
REFERENCE   7  (residues 1 to 553)
  AUTHORS   Kaminsky Z and Payne J.
  TITLE     Seeing the future: epigenetic biomarkers of postpartum depression
  JOURNAL   Neuropsychopharmacology 39 (1), 233-234 (2014)
   PUBMED   24317310
  REMARK    GeneRIF: found two biomarker loci at HP1BP3 and TTC9B, which
            predicted postpartum depression
REFERENCE   8  (residues 1 to 553)
  AUTHORS   Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanche H,
            Schreiber S and Nebel A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 553)
  AUTHORS   Hayashihara K, Uchiyama S, Shimamoto S, Kobayashi S, Tomschik M,
            Wakamatsu H, No D, Sugahara H, Hori N, Noda M, Ohkubo T, Zlatanova
            J, Matsunaga S and Fukui K.
  TITLE     The middle region of an HP1-binding protein, HP1-BP74, associates
            with linker DNA at the entry/exit site of nucleosomal DNA
  JOURNAL   J Biol Chem 285 (9), 6498-6507 (2010)
   PUBMED   20042602
  REMARK    GeneRIF: HP1-BP74 directly binds to HP1, and its middle region
            associates with linker DNA at the entry/exit site of nucleosomal
            DNA in vitro
REFERENCE   10 (residues 1 to 553)
  AUTHORS   Martins-de-Souza D, Gattaz WF, Schmitt A, Rewerts C, Maccarrone G,
            Dias-Neto E and Turck CW.
  TITLE     Prefrontal cortex shotgun proteome analysis reveals altered calcium
            homeostasis and immune system imbalance in schizophrenia
  JOURNAL   Eur Arch Psychiatry Clin Neurosci 259 (3), 151-163 (2009)
   PUBMED   19165527
  REMARK    GeneRIF: Using shotgun mass spectrometry, we found this protein
            differentially expressed in the dorsolateral prefrontal cortex from
            patients with schizophrenia.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL606477.11 and AL663074.13.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.178027.1,
                                           SRR1660803.212741.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000438032.6/ ENSP00000403039.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..553
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     Protein         1..553
                     /product="heterochromatin protein 1-binding protein 3
                     isoform 1"
                     /calculated_mol_wt=61076
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Site            6
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Region          29..134
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Site            51
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Site            85
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q6P747; propagated from
                     UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Region          140..159
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Site            142
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Region          155..245
                     /region_name="H15"
                     /note="linker histone 1 and histone 5 domains; the basic
                     subunit of chromatin is the nucleosome, consisting of an
                     octamer of core histones, two full turns of DNA, a linker
                     histone (H1 or H5) and a variable length of linker DNA;
                     H1/H5 are chromatin-associated...; cd00073"
                     /db_xref="CDD:238028"
     Site            155
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Site            156
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Site            order(162,174,206,220)
                     /site_type="DNA binding"
                     /note="DNA-binding site [nucleotide binding]"
                     /db_xref="CDD:238028"
     Site            190
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q3TEA8; propagated from
                     UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Site            201..212
                     /site_type="DNA binding"
                     /note="DNA-binding site [nucleotide binding]"
                     /db_xref="CDD:238028"
     Region          230..255
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Site            order(232..233,236..245)
                     /site_type="active"
                     /note="AKP helix motif (fragment) [active]"
                     /db_xref="CDD:238028"
     Site            248
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Site            249
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Region          253..319
                     /region_name="H15"
                     /note="Domain in histone families 1 and 5; smart00526"
                     /db_xref="CDD:197772"
     Region          255..259
                     /region_name="PxVxL motif.
                     /evidence=ECO:0000303|PubMed:20042602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Region          346..411
                     /region_name="Linker_histone"
                     /note="linker histone H1 and H5 family; pfam00538"
                     /db_xref="CDD:395429"
     Site            order(381..382,384..393)
                     /site_type="DNA binding"
                     /note="DNA-binding site [nucleotide binding]"
                     /db_xref="CDD:238028"
     Region          422..553
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Site            441
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Site            442
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Site            446
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q5SSJ5.1)"
     Region          <455..531
                     /region_name="valS"
                     /note="valyl-tRNA synthetase; Provisional; PRK14900"
                     /db_xref="CDD:237855"
     CDS             1..553
                     /gene="HP1BP3"
                     /gene_synonym="HP1-BP74; HP1BP74"
                     /coded_by="NM_001372052.1:214..1875"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS30621.1"
                     /db_xref="GeneID:50809"
                     /db_xref="HGNC:HGNC:24973"
                     /db_xref="MIM:616072"
ORIGIN      
        1 matdtsqgel vhpkalpliv gaqlihadkl gekvedstmp irrtvnstre tppksklaeg
       61 eeekpepdis seesvstvee qenetppats seaeqpkgep eneekeenks seetkkdekd
      121 qskekekkvk ktipswatls asqlaraqkq tpmassprpk mdailteaik acfqksgasv
      181 vairkyiihk ypslelerrg yllkqalkre lnrgvikqvk gkgasgsfvv vqksrktpqk
      241 srnrknrssa vdpepqvkle dvlplaftrl cepkeasysl irkyvsqyyp klrvdirpql
      301 lknalqrave rgqleqitgk gasgtfqlkk sgekpllggs lmeyailsai aamnepktcs
      361 ttalkkyvle nhpgtnsnyq mhllkktlqk cekngwmeqi sgkgfsgtfq lcfpyypspg
      421 vlfpkkepdd srdededede sseedsedee pppkrrlqkk tpakspgkaa svkqrgskpa
      481 pkvsaaqrgk arplpkkapp kaktpakktr psstvikkps ggsskkpats arkevklpgk
      541 gkstmkksfr vkk
//
LOCUS       NP_001274064             469 aa            linear   PRI 11-MAR-2023
DEFINITION  cyclin-dependent kinase 14 isoform a [Homo sapiens].
ACCESSION   NP_001274064 XP_005250491
VERSION     NP_001274064.1
DBSOURCE    REFSEQ: accession NM_001287135.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 469)
  AUTHORS   Wang C, Wu D, He M, Guan L, Bai D and Liang B.
  TITLE     LncRNA NORAD accelerates the progression of non-small cell lung
            cancer via targeting miRNA-455/CDK14 axis
  JOURNAL   Minerva Med 113 (5), 817-824 (2022)
   PUBMED   33764714
  REMARK    GeneRIF: LncRNA NORAD accelerates the progression of non-small cell
            lung cancer via targeting miRNA-455/CDK14 axis.
REFERENCE   2  (residues 1 to 469)
  AUTHORS   Chen S, Zhang Z, Zhang B, Huang Q, Liu Y, Qiu Y, Long X, Wu M and
            Zhang Z.
  TITLE     CircCDK14 Promotes Tumor Progression and Resists Ferroptosis in
            Glioma by Regulating PDGFRA
  JOURNAL   Int J Biol Sci 18 (2), 841-857 (2022)
   PUBMED   35002529
  REMARK    GeneRIF: CircCDK14 Promotes Tumor Progression and Resists
            Ferroptosis in Glioma by Regulating PDGFRA.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 469)
  AUTHORS   Yang Y, Yuan G, Xie H, Wei T, Zhu D, Zhu Y and Zheng S.
  TITLE     CDK14 expression is elevated in patients with non-small cell lung
            cancer and correlated with poor prognosis
  JOURNAL   J Int Med Res 49 (10), 3000605211013199 (2021)
   PUBMED   34637340
  REMARK    GeneRIF: CDK14 expression is elevated in patients with non-small
            cell lung cancer and correlated with poor prognosis.
REFERENCE   4  (residues 1 to 469)
  AUTHORS   Wu PF, Tang XM, Sun HL, Jiang HT, Ma J and Kong YH.
  TITLE     Depletion of circRNA circ_CDK14 inhibits osteosarcoma progression
            by regulating the miR-520a-3p/GAB1 axis
  JOURNAL   Neoplasma 68 (4), 798-809 (2021)
   PUBMED   34348465
  REMARK    GeneRIF: Depletion of circRNA circ_CDK14 inhibits osteosarcoma
            progression by regulating the miR-520a-3p/GAB1 axis.
REFERENCE   5  (residues 1 to 469)
  AUTHORS   Yin X, Huo Z, Yan S, Wang Z, Yang T, Wu H and Zhang Z.
  TITLE     MiR-205 Inhibits Sporadic Vestibular Schwannoma Cell Proliferation
            by Targeting Cyclin-Dependent Kinase 14
  JOURNAL   World Neurosurg 147, e25-e31 (2021)
   PUBMED   33217595
  REMARK    GeneRIF: MiR-205 Inhibits Sporadic Vestibular Schwannoma Cell
            Proliferation by Targeting Cyclin-Dependent Kinase 14.
REFERENCE   6  (residues 1 to 469)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   7  (residues 1 to 469)
  AUTHORS   Barrios-Rodiles M, Brown KR, Ozdamar B, Bose R, Liu Z, Donovan RS,
            Shinjo F, Liu Y, Dembowy J, Taylor IW, Luga V, Przulj N, Robinson
            M, Suzuki H, Hayashizaki Y, Jurisica I and Wrana JL.
  TITLE     High-throughput mapping of a dynamic signaling network in mammalian
            cells
  JOURNAL   Science 307 (5715), 1621-1625 (2005)
   PUBMED   15761153
REFERENCE   8  (residues 1 to 469)
  AUTHORS   Yang T, Gao YK and Chen JY.
  TITLE     KIAA0202, a human septin family member, interacting with hPFTAIRE1
  JOURNAL   Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai) 34 (4),
            520-525 (2002)
   PUBMED   12098780
REFERENCE   9  (residues 1 to 469)
  AUTHORS   Yang T and Chen JY.
  TITLE     Identification and cellular localization of human PFTAIRE1
  JOURNAL   Gene 267 (2), 165-172 (2001)
   PUBMED   11313143
REFERENCE   10 (residues 1 to 469)
  AUTHORS   Lazzaro MA, Albert PR and Julien JP.
  TITLE     A novel cdc2-related protein kinase expressed in the nervous system
  JOURNAL   J Neurochem 69 (1), 348-364 (1997)
   PUBMED   9202329
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC002456.2, HY179664.1, DC420282.1, AF119833.1, AK297974.1,
            BC136477.1, BP336072.1, DB476188.1, AB020641.1, BM740394.1 and
            BC152436.1.
            On Nov 27, 2013 this sequence version replaced XP_005250491.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.197386.1,
                                           SRR1660809.234153.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380050.8/ ENSP00000369390.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..469
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.13"
     Protein         1..469
                     /product="cyclin-dependent kinase 14 isoform a"
                     /EC_number="2.7.11.22"
                     /note="PFTAIRE protein kinase 1; cell division protein
                     kinase 14; serine/threonine-protein kinase PFTAIRE-1"
                     /calculated_mol_wt=52926
     Site            24
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94921.3)"
     Site            78
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94921.3)"
     Site            95
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (O94921.3)"
     Region          103..133
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94921.3)"
     Region          129..431
                     /region_name="STKc_PFTAIRE1"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     PFTAIRE-1 kinase; cd07869"
                     /db_xref="CDD:143374"
     Site            134
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94921.3)"
     Site            order(141..144,149,162,164,180,194,210..213,216,218..219,
                     256,258,260..261,263,274,277,289,291..294,296,334..335)
                     /site_type="active"
                     /db_xref="CDD:143374"
     Site            order(141..144,149,162,164,194,210..213,216,219,260..261,
                     263,274)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:143374"
     Site            order(172..174,176,179..180,182..183,186..187,199,201,206,
                     245,248..251,279,281..284,288..289,405,409..411)
                     /site_type="other"
                     /note="putative CDK/cyclin interface [polypeptide
                     binding]"
                     /db_xref="CDD:143374"
     Site            order(180,218,256,258,277,289,291..294,296,334..335)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:143374"
     Site            273..296
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:143374"
     Region          449..469
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94921.3)"
     CDS             1..469
                     /gene="CDK14"
                     /gene_synonym="PFTAIRE1; PFTK1"
                     /coded_by="NM_001287135.2:308..1717"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS75626.1"
                     /db_xref="GeneID:5218"
                     /db_xref="HGNC:HGNC:8883"
                     /db_xref="MIM:610679"
ORIGIN      
        1 mcdliepqpa ekigkmkklr rtlsesfsri alkkddttfd eicvtkmstr ncqgmdsvik
       61 pldtipedkk vrvqrtqstf dpfekpanqv krvhsennac infktsstgk espkvrrhss
      121 pssptspkfg kadsyeklek lgegsyatvy kgkskvngkl valkvirlqe eegtpftair
      181 easllkglkh anivllhdii htketltlvf eyvhtdlcqy mdkhpgglhp dnvklflfql
      241 lrglsyihqr yilhrdlkpq nllisdtgel kladfglara ksvpshtysn evvtlwyrpp
      301 dvllgsteys tcldmwgvgc ifvemiqgva afpgmkdiqd qleriflvlg tpnedtwpgv
      361 hslphfkper ftlyssknlr qawnklsyvn haedlaskll qcspknrlsa qaalsheyfs
      421 dlpprlwelt dmssiftvpn vrlqpeages mrafgknnsy gkslsnskh
//
LOCUS       NP_060033                739 aa            linear   PRI 12-MAR-2023
DEFINITION  interleukin-17 receptor D isoform a precursor [Homo sapiens].
ACCESSION   NP_060033 NP_001074442
VERSION     NP_060033.3
DBSOURCE    REFSEQ: accession NM_017563.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 739)
  AUTHORS   Men M, Wang X, Wu J, Zeng W, Jiang F, Zheng R and Li JD.
  TITLE     Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4
            variants in a large Chinese cohort with isolated hypogonadotropic
            hypogonadism
  JOURNAL   J Med Genet 58 (1), 66-72 (2021)
   PUBMED   32389901
  REMARK    GeneRIF: Prevalence and associated phenotypes of DUSP6, IL17RD and
            SPRY4 variants in a large Chinese cohort with isolated
            hypogonadotropic hypogonadism.
REFERENCE   2  (residues 1 to 739)
  AUTHORS   Zhan L, Mu Z, Yang M, Zhang T, Li H and Qian L.
  TITLE     Elevation of circ-PITX1 upregulates interleukin 17 receptor D
            expression via sponging miR-518a-5p and facilitates cell
            progression in glioma
  JOURNAL   J Cell Biochem 120 (10), 16495-16502 (2019)
   PUBMED   31069865
  REMARK    GeneRIF: Elevation of circ-PITX1 upregulates interleukin 17
            receptor D expression via sponging miR-518a-5p and facilitates cell
            progression in glioma.
REFERENCE   3  (residues 1 to 739)
  AUTHORS   Su Y, Huang J, Zhao X, Lu H, Wang W, Yang XO, Shi Y, Wang X, Lai Y
            and Dong C.
  TITLE     Interleukin-17 receptor D constitutes an alternative receptor for
            interleukin-17A important in psoriasis-like skin inflammation
  JOURNAL   Sci Immunol 4 (36) (2019)
   PUBMED   31175175
  REMARK    GeneRIF: IL-17RD is a functional receptor for IL-17A in vitro and
            in vivo and mediates the proinflammatory gene expression downstream
            of IL-17A..
REFERENCE   4  (residues 1 to 739)
  AUTHORS   Peng DH, Kundu ST, Fradette JJ, Diao L, Tong P, Byers LA, Wang J,
            Canales JR, Villalobos PA, Mino B, Yang Y, Minelli R, Peoples MD,
            Bristow CA, Heffernan TP, Carugo A, Wistuba II and Gibbons DL.
  TITLE     ZEB1 suppression sensitizes KRAS mutant cancers to MEK inhibition
            by an IL17RD-dependent mechanism
  JOURNAL   Sci Transl Med 11 (483) (2019)
   PUBMED   30867319
  REMARK    GeneRIF: MAPK signaling dependency in epithelial lung cancer cells
            is due to the scaffold protein interleukin-17 receptor D (IL17RD),
            which is directly repressed by ZEB1.
REFERENCE   5  (residues 1 to 739)
  AUTHORS   Preger E, Ziv I, Shabtay A, Sher I, Tsang M, Dawid IB, Altuvia Y
            and Ron D.
  TITLE     Alternative splicing generates an isoform of the human Sef gene
            with altered subcellular localization and specificity
  JOURNAL   Proc Natl Acad Sci U S A 101 (5), 1229-1234 (2004)
   PUBMED   14742870
  REMARK    GeneRIF: CUG codon functions as a major translation initiation site
            in the alternatively spliced transcript variant hSef-b.
REFERENCE   6  (residues 1 to 739)
  AUTHORS   Yang RB, Ng CK, Wasserman SM, Komuves LG, Gerritsen ME and Topper
            JN.
  TITLE     A novel interleukin-17 receptor-like protein identified in human
            umbilical vein endothelial cells antagonizes basic fibroblast
            growth factor-induced signaling
  JOURNAL   J Biol Chem 278 (35), 33232-33238 (2003)
   PUBMED   12807873
  REMARK    GeneRIF: human SEF is likely to play critical roles in endothelial
            or epithelial functions such as proliferation, migration, and
            angiogenesis
REFERENCE   7  (residues 1 to 739)
  AUTHORS   Kovalenko D, Yang X, Nadeau RJ, Harkins LK and Friesel R.
  TITLE     Sef inhibits fibroblast growth factor signaling by inhibiting FGFR1
            tyrosine phosphorylation and subsequent ERK activation
  JOURNAL   J Biol Chem 278 (16), 14087-14091 (2003)
   PUBMED   12604616
  REMARK    GeneRIF: Sef exerts its inhibitory effects at the level of FGFR and
            upstream of Ras providing an additional level of negative
            regulation of FGF signaling
REFERENCE   8  (residues 1 to 739)
  AUTHORS   Furthauer M, Lin W, Ang SL, Thisse B and Thisse C.
  TITLE     Sef is a feedback-induced antagonist of Ras/MAPK-mediated FGF
            signalling
  JOURNAL   Nat Cell Biol 4 (2), 170-174 (2002)
   PUBMED   11802165
REFERENCE   9  (residues 1 to 739)
  AUTHORS   Tsang M, Friesel R, Kudoh T and Dawid IB.
  TITLE     Identification of Sef, a novel modulator of FGF signalling
  JOURNAL   Nat Cell Biol 4 (2), 165-169 (2002)
   PUBMED   11802164
REFERENCE   10 (residues 1 to 739)
  AUTHORS   Balasubramanian,R. and Crowley,W.F. Jr.
  TITLE     Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301509
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY024286.1, AF458067.1,
            AK302045.1, AC097358.2 and BQ017683.1.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Jan 24, 2008 this sequence version replaced
            NP_001074442.1, NP_060033.2.
            
            Summary: This gene encodes a membrane protein belonging to the
            interleukin-17 receptor (IL-17R) protein family. The encoded
            protein is a component of the interleukin-17 receptor signaling
            complex, and the interaction between this protein and IL-17R does
            not require the interleukin. The gene product also affects
            fibroblast growth factor signaling, inhibiting or stimulating
            growth through MAPK/ERK signaling. Alternate splicing generates
            multiple transcript variants encoding distinct isoforms. [provided
            by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (2) represents the shorter
            transcript and encodes the longer isoform a (also known as hSef-a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF494208.1, SRR1803615.154012.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296318.12/ ENSP00000296318.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..739
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.3"
     Protein         1..739
                     /product="interleukin-17 receptor D isoform a precursor"
                     /note="IL17Rhom; sef homolog; IL-17 receptor D;
                     interleukin-17 receptor-like protein; similar expression
                     to fgf genes"
                     /calculated_mol_wt=80602
     sig_peptide     1..16
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1827
     mat_peptide     17..739
                     /product="Interleukin-17 receptor D. /id=PRO_0000041871"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFM7.3)"
                     /calculated_mol_wt=80602
     Site            19
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFM7.3)"
     Region          48..169
                     /region_name="IL17R_D_N"
                     /note="N-terminus of interleukin 17 receptor D; pfam16742"
                     /db_xref="CDD:435553"
     Site            55
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFM7.3)"
     Site            62
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFM7.3)"
     Site            80
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFM7.3)"
     Site            137
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFM7.3)"
     Site            171
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFM7.3)"
     Site            206
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFM7.3)"
     Site            277
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFM7.3)"
     Site            300..320
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFM7.3)"
     Region          356..511
                     /region_name="SEFIR"
                     /note="SEFIR domain; pfam08357"
                     /db_xref="CDD:254756"
     Region          614..635
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFM7.3)"
     Region          650..719
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFM7.3)"
     CDS             1..739
                     /gene="IL17RD"
                     /gene_synonym="HH18; IL-17RD; IL17RLM; SEF"
                     /coded_by="NM_017563.5:68..2287"
                     /note="isoform a precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS2880.2"
                     /db_xref="GeneID:54756"
                     /db_xref="HGNC:HGNC:17616"
                     /db_xref="MIM:606807"
ORIGIN      
        1 mapwlqlcsv fftvnaclng sqlavaaggs grargadtcg wrgvgpasrn sglynitfky
       61 dncttylnpv gkhviadaqn itisqyachd qvavtilwsp galgieflkg frvileelks
      121 egrqcqqlil kdpkqlnssf krtgmesqpf lnmkfetdyf vkvvpfpsik nesnyhpfff
      181 rtracdlllq pdnlackpfw kprnlnisqh gsdmqvsfdh aphnfgfrff ylhyklkheg
      241 pfkrktckqe qttettscll qnvspgdyii elvddtnttr kvmhyalkpv hspwagpira
      301 vaitvplvvi safatlftvm crkkqqeniy shldeesses stytaalpre rlrprpkvfl
      361 cysskdgqnh mnvvqcfayf lqdfcgceva ldlwedfslc regqrewviq kihesqfiiv
      421 vcskgmkyfv dkknykhkgg grgsgkgelf lvavsaiaek lrqakqsssa alskfiavyf
      481 dyscegdvpg ildlstkyrl mdnlpqlcsh lhsrdhglqe pgqhtrqgsr rnyfrsksgr
      541 slyvaicnmh qfideepdwf ekqfvpfhpp plryrepvle kfdsglvlnd vmckpgpesd
      601 fclkveaavl gatgpadsqh esqhggldqd gearpaldgs aalqpllhtv kagspsdmpr
      661 dsgiydssvp sselslplme glstdqtets sltesvssss glgeeeppal pskllssgsc
      721 kadlgcrsyt delhavapl
//
LOCUS       NP_001334789             348 aa            linear   PRI 15-MAR-2023
DEFINITION  erlin-1 isoform a [Homo sapiens].
ACCESSION   NP_001334789
VERSION     NP_001334789.1
DBSOURCE    REFSEQ: accession NM_001347860.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 348)
  AUTHORS   Manganelli V, Longo A, Mattei V, Recalchi S, Riitano G, Caissutti
            D, Capozzi A, Sorice M, Misasi R and Garofalo T.
  TITLE     Role of ERLINs in the Control of Cell Fate through Lipid Rafts
  JOURNAL   Cells 10 (9), 2408 (2021)
   PUBMED   34572057
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 348)
  AUTHORS   Li BT, Sun M, Li YF, Wang JQ, Zhou ZM, Song BL and Luo J.
  TITLE     Disruption of the ERLIN-TM6SF2-APOB complex destabilizes APOB and
            contributes to non-alcoholic fatty liver disease
  JOURNAL   PLoS Genet 16 (8), e1008955 (2020)
   PUBMED   32776921
  REMARK    GeneRIF: Disruption of the ERLIN-TM6SF2-APOB complex destabilizes
            APOB and contributes to non-alcoholic fatty liver disease.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 348)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 348)
  AUTHORS   Whitten-Bauer C, Chung J, Gomez-Moreno A, Gomollon-Zueco P, Huber
            MD, Gerace L and Garaigorta U.
  TITLE     The Host Factor Erlin-1 is Required for Efficient Hepatitis C Virus
            Infection
  JOURNAL   Cells 8 (12), 1555 (2019)
   PUBMED   31810281
  REMARK    GeneRIF: erlin-1 protein is required early in the infection,
            downstream of cell entry and primary translation, specifically to
            initiate RNA replication, and later in the infection to support
            infectious virus production. This study identifies erlin-1 protein
            as an important cellular factor regulating HCV infection.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 348)
  AUTHORS   Fasci D, van Ingen H, Scheltema RA and Heck AJR.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   6  (residues 1 to 348)
  AUTHORS   Yuan X, Waterworth D, Perry JR, Lim N, Song K, Chambers JC, Zhang
            W, Vollenweider P, Stirnadel H, Johnson T, Bergmann S, Beckmann ND,
            Li Y, Ferrucci L, Melzer D, Hernandez D, Singleton A, Scott J,
            Elliott P, Waeber G, Cardon L, Frayling TM, Kooner JS and Mooser V.
  TITLE     Population-based genome-wide association studies reveal six loci
            influencing plasma levels of liver enzymes
  JOURNAL   Am J Hum Genet 83 (4), 520-528 (2008)
   PUBMED   18940312
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   7  (residues 1 to 348)
  AUTHORS   Lyssand JS, DeFino MC, Tang XB, Hertz AL, Feller DB, Wacker JL,
            Adams ME and Hague C.
  TITLE     Blood pressure is regulated by an alpha1D-adrenergic
            receptor/dystrophin signalosome
  JOURNAL   J Biol Chem 283 (27), 18792-18800 (2008)
   PUBMED   18468998
REFERENCE   8  (residues 1 to 348)
  AUTHORS   Browman DT, Resek ME, Zajchowski LD and Robbins SM.
  TITLE     Erlin-1 and erlin-2 are novel members of the prohibitin family of
            proteins that define lipid-raft-like domains of the ER
  JOURNAL   J Cell Sci 119 (Pt 15), 3149-3160 (2006)
   PUBMED   16835267
  REMARK    GeneRIF: Erlin-1 and erlin-2 are novel members of the prohibitin
            family of proteins that define lipid-raft-like domains of the ER.
REFERENCE   9  (residues 1 to 348)
  AUTHORS   Li N, Huang X, Zhao Z, Chen G, Zhang W and Cao X.
  TITLE     Identification and characterization of a novel gene KE04
            differentially expressed by activated human dendritic cells
  JOURNAL   Biochem Biophys Res Commun 279 (2), 487-493 (2000)
   PUBMED   11118313
REFERENCE   10 (residues 1 to 348)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138921.14.
            
            Summary: The protein encoded by this gene is part of a protein
            complex that mediates degradation of inositol 1,4,5-trisphosphate
            receptors in the endoplasmic reticulum. The encoded protein also
            binds cholesterol and regulates the SREBP signaling pathway, which
            promotes cellular cholesterol homeostasis. Defects in this gene
            have been associated with spastic paraplegia 62. [provided by
            RefSeq, Dec 2016].
            
            Transcript Variant: This variant (5), as well as variants 1, 2, 3,
            4, and 6, encodes isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1483559.1,
                                           SRR14038193.2222761.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..348
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     Protein         1..348
                     /product="erlin-1 isoform a"
                     /note="Band_7 23-211 Keo4 (Interim) similar to C.elegans
                     protein C42C1.9; SPFH domain family, member 1; SPFH
                     domain-containing protein 1; endoplasmic reticulum lipid
                     raft-associated protein 1;
                     stomatin-prohibitin-flotillin-HflC/K domain-containing
                     protein 1"
                     /calculated_mol_wt=39040
     Site            8..28
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75477.2)"
     Region          23..310
                     /region_name="SPFH_like_u3"
                     /note="Uncharacterized family; SPFH (stomatin, prohibitin,
                     flotillin, and HflK/C) superfamily; cd03406"
                     /db_xref="CDD:259804"
     Site            108
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (O75477.2)"
     Site            269
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O75477.2)"
     Region          325..348
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75477.2)"
     CDS             1..348
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /coded_by="NM_001347860.2:135..1181"
                     /note="isoform a is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS7487.2"
                     /db_xref="GeneID:10613"
                     /db_xref="HGNC:HGNC:16947"
                     /db_xref="MIM:611604"
ORIGIN      
        1 mnmtqarvlv aavvglvavl lyasihkiee ghlavyyrgg alltspsgpg yhimlpfitt
       61 frsvqttlqt devknvpcgt sggvmiyidr ievvnmlapy avfdivrnyt adydktlifn
      121 kihhelnqfc sahtlqevyi elfdqidenl kqalqkdlnl mapgltiqav rvtkpkipea
      181 irrnfelmea ektklliaaq kqkvvekeae terkkaviea ekiaqvakir fqqkvmeket
      241 ekriseieda aflarekaka daeyyaahky atsnkhkltp eylelkkyqa iasnskiyfg
      301 snipnmfvds scalkysdir tgresslpsk ealepsgenv iqnkestg
//
LOCUS       NP_054703                114 aa            linear   PRI 15-MAR-2023
DEFINITION  protachykinin-1 isoform gamma precursor [Homo sapiens].
ACCESSION   NP_054703
VERSION     NP_054703.1
DBSOURCE    REFSEQ: accession NM_013997.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 114)
  AUTHORS   Wei XL, Luo L, Chen MZ, Zhou J, Lan BY, Ma XM and Chen WX.
  TITLE     Temporospatial Expression of Neuropeptide Substance P in Dental
            Pulp Stem Cells During Odontoblastic Differentiation in Vitro and
            Reparative Dentinogenesis in Vivo
  JOURNAL   J Endod 49 (3), 276-285 (2023)
   PUBMED   36549466
  REMARK    GeneRIF: Temporospatial Expression of Neuropeptide Substance P in
            Dental Pulp Stem Cells During Odontoblastic Differentiation in
            Vitro and Reparative Dentinogenesis in Vivo.
REFERENCE   2  (residues 1 to 114)
  AUTHORS   Schirinzi T, Lattanzi R, Maftei D, Grillo P, Zenuni H, Boffa L,
            Albanese M, Simonetta C, Bovenzi R, Maurizi R, Loccisano L,
            Vincenzi M, Greco A, Di Girolamo S, Mercuri NB, Passali FM and
            Severini C.
  TITLE     Substance P and Prokineticin-2 are overexpressed in olfactory
            neurons and play differential roles in persons with persistent
            post-COVID-19 olfactory dysfunction
  JOURNAL   Brain Behav Immun 108, 302-308 (2023)
   PUBMED   36549578
  REMARK    GeneRIF: Substance P and Prokineticin-2 are overexpressed in
            olfactory neurons and play differential roles in persons with
            persistent post-COVID-19 olfactory dysfunction.
REFERENCE   3  (residues 1 to 114)
  AUTHORS   Li M, Zhong X and Xu WT.
  TITLE     Substance P promotes the progression of bronchial asthma through
            activating the PI3K/AKT/NF-kappaB pathway mediated cellular
            inflammation and pyroptotic cell death in bronchial epithelial
            cells
  JOURNAL   Cell Cycle 21 (20), 2179-2191 (2022)
   PUBMED   35726575
  REMARK    GeneRIF: Substance P promotes the progression of bronchial asthma
            through activating the PI3K/AKT/NF-kappaB pathway mediated cellular
            inflammation and pyroptotic cell death in bronchial epithelial
            cells.
REFERENCE   4  (residues 1 to 114)
  AUTHORS   Avcil M, Yolcubal A, Ozluer YE and Yetis C.
  TITLE     Matrix metalloproteinase-9 and substance-P as predictors for
            early-stage diagnosis of acute mountain sickness
  JOURNAL   Am J Emerg Med 59, 100-105 (2022)
   PUBMED   35820276
  REMARK    GeneRIF: Matrix metalloproteinase-9 and substance-P as predictors
            for early-stage diagnosis of acute mountain sickness.
REFERENCE   5  (residues 1 to 114)
  AUTHORS   Zaarour RF, Saha D, Dey R, Dutta A, Kumar P, Rana I, Pulianmackal
            A, Rizvi A, Misra N, Breton L and Jamora C.
  TITLE     The neuropeptide Substance P facilitates the transition from an
            inflammatory to proliferation phase-associated responses in dermal
            fibroblasts
  JOURNAL   Exp Dermatol 31 (8), 1188-1201 (2022)
   PUBMED   35353932
  REMARK    GeneRIF: The neuropeptide Substance P facilitates the transition
            from an inflammatory to proliferation phase-associated responses in
            dermal fibroblasts.
REFERENCE   6  (residues 1 to 114)
  AUTHORS   Bannon MJ, Poosch MS, Haverstick DM, Mandal A, Xue IC, Shibata K
            and Dragovic LJ.
  TITLE     Preprotachykinin gene expression in the human basal ganglia:
            characterization of mRNAs and pre-mRNAs produced by alternate RNA
            splicing
  JOURNAL   Brain Res Mol Brain Res 12 (1-3), 225-231 (1992)
   PUBMED   1312203
REFERENCE   7  (residues 1 to 114)
  AUTHORS   Chiwakata C, Brackmann B, Hunt N, Davidoff M, Schulze W and Ivell
            R.
  TITLE     Tachykinin (substance-P) gene expression in Leydig cells of the
            human and mouse testis
  JOURNAL   Endocrinology 128 (5), 2441-2448 (1991)
   PUBMED   1708336
REFERENCE   8  (residues 1 to 114)
  AUTHORS   McGregor GP and Conlon JM.
  TITLE     Characterization of the C-terminal flanking peptide of human
            beta-preprotachykinin
  JOURNAL   Peptides 11 (5), 907-910 (1990)
   PUBMED   2284201
REFERENCE   9  (residues 1 to 114)
  AUTHORS   Theodorsson-Norheim,E., Jornvall,H., Andersson,M., Norheim,I.,
            Oberg,K. and Jacobsson,G.
  TITLE     Isolation and characterization of neurokinin A, neurokinin A(3-10)
            and neurokinin A(4-10) from a neutral water extract of a metastatic
            ileal carcinoid tumour
  JOURNAL   Eur J Biochem 166 (3), 693-697 (1987)
   PUBMED   3038549
REFERENCE   10 (residues 1 to 114)
  AUTHORS   Harmar,A.J., Armstrong,A., Pascall,J.C., Chapman,K., Rosie,R.,
            Curtis,A., Going,J., Edwards,C.R. and Fink,G.
  TITLE     cDNA sequence of human beta-preprotachykinin, the common precursor
            to substance P and neurokinin A
  JOURNAL   FEBS Lett 208 (1), 67-72 (1986)
   PUBMED   3770210
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DN992454.1, AF050657.1 and
            U37529.1.
            
            Summary: This gene encodes four products of the tachykinin peptide
            hormone family, substance P and neurokinin A, as well as the
            related peptides, neuropeptide K and neuropeptide gamma. These
            hormones are thought to function as neurotransmitters which
            interact with nerve receptors and smooth muscle cells. They are
            known to induce behavioral responses and function as vasodilators
            and secretagogues. Substance P is an antimicrobial peptide with
            antibacterial and antifungal properties. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Nov 2014].
            
            Transcript Variant: As compared to the full-length transcript
            variant beta, variant gamma lacks exon 4, and therefore does not
            encode neuropeptide K. This transcript does encode substance P,
            neurokinin A, and is the only variant that encodes neuropeptide
            gamma.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.105117.1,
                                           SRR1660803.384633.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            Protein has antimicrobial activity :: PMID: 12074933
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..114
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.3"
     Protein         1..114
                     /product="protachykinin-1 isoform gamma precursor"
                     /note="neuropeptide gamma; neuropeptide K; tachykinin,
                     precursor 1 (substance K, substance P, neurokinin 1,
                     neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide
                     K, neuropeptide gamma); tachykinin 2; protachykinin;
                     preprotachykinin; neurokinin A; protachykinin-1; PPT"
                     /calculated_mol_wt=11250
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2112
     proprotein      20..114
                     /product="protachykinin-1 isoform gamma"
                     /calculated_mol_wt=11250
     mat_peptide     58..68
                     /product="substance P"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     12074933]"
                     /calculated_mol_wt=1349
     mat_peptide     72..92
                     /product="neuropeptide gamma"
                     /calculated_mol_wt=2322
     mat_peptide     83..92
                     /product="neurokinin A"
                     /calculated_mol_wt=1134
     CDS             1..114
                     /gene="TAC1"
                     /gene_synonym="Hs.2563; NK2; NKNA; NPK; TAC2"
                     /coded_by="NM_013997.3:120..464"
                     /note="isoform gamma precursor is encoded by transcript
                     variant gamma"
                     /db_xref="CCDS:CCDS5651.1"
                     /db_xref="GeneID:6863"
                     /db_xref="HGNC:HGNC:11517"
                     /db_xref="MIM:162320"
ORIGIN      
        1 mkilvalavf flvstqlfae eiganddlny wsdwydsdqi keelpepfeh llqriarrpk
       61 pqqffglmgk rdaghgqish krhktdsfvg lmgkralnsv ayersamqny errr
//
LOCUS       NP_001189333             475 aa            linear   PRI 18-MAR-2023
DEFINITION  alpha-aminoadipic semialdehyde dehydrogenase isoform 3 [Homo
            sapiens].
ACCESSION   NP_001189333
VERSION     NP_001189333.2
DBSOURCE    REFSEQ: accession NM_001202404.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 475)
  AUTHORS   Lu HJ, Chuang CY, Chen MK, Su CW, Yang WE, Yeh CM, Lai KM, Tang CH,
            Lin CW and Yang SF.
  TITLE     The impact of ALDH7A1 variants in oral cancer development and
            prognosis
  JOURNAL   Aging (Albany NY) 14 (10), 4556-4571 (2022)
   PUBMED   35613852
  REMARK    GeneRIF: The impact of ALDH7A1 variants in oral cancer development
            and prognosis.
REFERENCE   2  (residues 1 to 475)
  AUTHORS   Tan M, Meng J, Sun X, Fu X and Wang R.
  TITLE     EPS8 supports pancreatic cancer growth by inhibiting BMI1 mediated
            proteasomal degradation of ALDH7A1
  JOURNAL   Exp Cell Res 407 (1), 112782 (2021)
   PUBMED   34391775
  REMARK    GeneRIF: EPS8 supports pancreatic cancer growth by inhibiting BMI1
            mediated proteasomal degradation of ALDH7A1.
REFERENCE   3  (residues 1 to 475)
  AUTHORS   Korasick DA and Tanner JJ.
  TITLE     Impact of missense mutations in the ALDH7A1 gene on enzyme
            structure and catalytic function
  JOURNAL   Biochimie 183, 49-54 (2021)
   PUBMED   32956737
  REMARK    GeneRIF: Impact of missense mutations in the ALDH7A1 gene on enzyme
            structure and catalytic function.
            Review article
REFERENCE   4  (residues 1 to 475)
  AUTHORS   Boehm T, Hubmann H, Petroczi K, Mathis D, Klavins K, Fauler G,
            Plecko B, Struys E and Jilma B.
  TITLE     Condensation of delta-1-piperideine-6-carboxylate with
            ortho-aminobenzaldehyde allows its simple, fast, and inexpensive
            quantification in the urine of patients with antiquitin deficiency
  JOURNAL   J Inherit Metab Dis 43 (4), 891-900 (2020)
   PUBMED   31930735
  REMARK    GeneRIF: Condensation of delta-1-piperideine-6-carboxylate with
            ortho-aminobenzaldehyde allows its simple, fast, and inexpensive
            quantification in the urine of patients with antiquitin deficiency.
REFERENCE   5  (residues 1 to 475)
  AUTHORS   Brocker C, Lassen N, Estey T, Pappa A, Cantore M, Orlova VV,
            Chavakis T, Kavanagh KL, Oppermann U and Vasiliou V.
  TITLE     Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in
            cellular defense against hyperosmotic stress
  JOURNAL   J Biol Chem 285 (24), 18452-18463 (2010)
   PUBMED   20207735
  REMARK    GeneRIF: ALDH7A1 is a novel aldehyde dehydrogenase expressed in
            multiple subcellular compartments that protects against
            hyperosmotic stress by generating osmolytes and metabolizing toxic
            aldehydes
REFERENCE   6  (residues 1 to 475)
  AUTHORS   Wong JW, Chan CL, Tang WK, Cheng CH and Fong WP.
  TITLE     Is antiquitin a mitochondrial Enzyme?
  JOURNAL   J Cell Biochem 109 (1), 74-81 (2010)
   PUBMED   19885858
  REMARK    GeneRIF: antiquitin was present not only in the cytosol but also in
            the mitochondria.
REFERENCE   7  (residues 1 to 475)
  AUTHORS   Cormier-Daire V, Dagoneau N, Nabbout R, Burglen L, Penet C,
            Soufflet C, Desguerre I, Munnich A and Dulac O.
  TITLE     A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31
  JOURNAL   Am J Hum Genet 67 (4), 991-993 (2000)
   PUBMED   10978228
REFERENCE   8  (residues 1 to 475)
  AUTHORS   Skvorak AB, Robertson NG, Yin Y, Weremowicz S, Her H, Bieber FR,
            Beisel KW, Lynch ED, Beier DR and Morton CC.
  TITLE     An ancient conserved gene expressed in the human inner ear:
            identification, expression analysis, and chromosomal mapping of
            human and mouse antiquitin (ATQ1)
  JOURNAL   Genomics 46 (2), 191-199 (1997)
   PUBMED   9417906
REFERENCE   9  (residues 1 to 475)
  AUTHORS   Lee P, Kuhl W, Gelbart T, Kamimura T, West C and Beutler E.
  TITLE     Homology between a human protein and a protein of the green garden
            pea
  JOURNAL   Genomics 21 (2), 371-378 (1994)
   PUBMED   8088832
REFERENCE   10 (residues 1 to 475)
  AUTHORS   Gospe,S.M. Jr.
  TITLE     Pyridoxine-Dependent Epilepsy - ALDH7A1
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301659
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099513.3 and AC093535.2.
            On Jan 26, 2016 this sequence version replaced NP_001189333.1.
            
            Summary: The protein encoded by this gene is a member of subfamily
            7 in the aldehyde dehydrogenase gene family. These enzymes are
            thought to play a major role in the detoxification of aldehydes
            generated by alcohol metabolism and lipid peroxidation. This
            particular member has homology to a previously described protein
            from the green garden pea, the 26g pea turgor protein. It is also
            involved in lysine catabolism that is known to occur in the
            mitochondrial matrix. Recent reports show that this protein is
            found both in the cytosol and the mitochondria, and the two forms
            likely arise from the use of alternative translation initiation
            sites. An additional variant encoding a different isoform has also
            been found for this gene. Mutations in this gene are associated
            with pyridoxine-dependent epilepsy. Several related pseudogenes
            have also been identified. [provided by RefSeq, Jan 2011].
            
            Transcript Variant: This variant (2) is missing two in-frame coding
            exons compared to variant 1, resulting in a shorter isoform (3)
            lacking an internal protein segment compared to isoform 1.
            
            Sequence Note: This Refseq, containing three potential in-frame
            translation initiation codons (all with weak Kozak signals), is
            annotated with a CDS starting from a downstream start codon (at nt
            193-195) based on better conservation, N-terminal consistency with
            homologous proteins, and the presence of a transit peptide, which
            is essential for the localization of this isoform in the
            mitochondria (PMIDs: 20207735 and 19885858), and is consistent with
            the function of this gene in lysine catabolism (which is known to
            occur in the mitochondria). The use of an upstream start codon (at
            nt 112-114) that is present in only a subset of higher mammals,
            would increase the protein length by 27 aa. This RefSeq record was
            created from transcript and genomic sequence data to make the
            sequence consistent with the reference genome assembly. The genomic
            coordinates used for the transcript record were based on transcript
            alignments.
            
            CCDS Note: The coding region has been updated to shorten the
            N-terminus based on the use of a downstream in-frame start codon,
            which is more supported by the available transcript and
            conservation data. There is a higher probability of an N-terminal
            transit peptide being present in the updated protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK297365.1, SRR14038194.1130632.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..475
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.2"
     Protein         1..475
                     /product="alpha-aminoadipic semialdehyde dehydrogenase
                     isoform 3"
                     /EC_number="1.2.1.3"
                     /EC_number="1.2.1.8"
                     /EC_number="1.2.1.31"
                     /note="26g turgor protein homolog; alpha-aminoadipic
                     semialdehyde dehydrogenase; alpha-AASA dehydrogenase; P6c
                     dehydrogenase; antiquitin-1; betaine aldehyde
                     dehydrogenase; delta1-piperideine-6-carboxylate
                     dehydrogenase; epididymis secretory sperm binding protein"
                     /calculated_mol_wt=51280
     Region          53..463
                     /region_name="ALDH_F7_AASADH"
                     /note="NAD+-dependent alpha-aminoadipic semialdehyde
                     dehydrogenase, ALDH family members 7A1 and 7B; cd07130"
                     /db_xref="CDD:143448"
     Site            order(100,106,109,115,122,161..162,164,166,168,170..173,
                     180..181,183,280,283..284,287,292..293,320,378,401,
                     407..408,412,415,417..420,426..427,431,435,442,446..447,
                     450,454..459,461..462)
                     /site_type="other"
                     /note="tetrameric interface [polypeptide binding]"
                     /db_xref="CDD:143448"
     Site            order(192..195,218,220..221,258..259,272..275,278,281,
                     296..298,330,363,432)
                     /site_type="other"
                     /note="NAD binding site [chemical binding]"
                     /db_xref="CDD:143448"
     Site            order(195,296,327,330)
                     /site_type="active"
                     /note="catalytic residues [active]"
                     /db_xref="CDD:143448"
     CDS             1..475
                     /gene="ALDH7A1"
                     /gene_synonym="ATQ1; EPD; PDE"
                     /coded_by="NM_001202404.2:22..1449"
                     /note="isoform 3 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS56380.2"
                     /db_xref="GeneID:501"
                     /db_xref="HGNC:HGNC:877"
                     /db_xref="MIM:107323"
ORIGIN      
        1 mwrlpralcv haaktsklsg pwsrpaafms tllinqpqya wlkelglree negvyngswg
       61 grgevittyc pannepiarv rqasvadyee tvkkareawk iwadipapkr geivrqigda
      121 lrekiqvlgs lvslemgkil vegvgevqey vdicdyavgl srmiggpilp sersghalie
      181 qwnpvglvgi itafnfpvav ygwnnaiami cgnvclwkga pttslisvav tkiiakvled
      241 nklpgaicsl tcggadigta makdervnll sftgstqvgk qvglmvqerf grsllelggn
      301 naiiafedad lslvvpsalf aavgtagqrc ttarrlvmdr pgnyveptiv tglghdasia
      361 htetfapily vfkfkneeev fawnnevkqg lsssiftkdl grifrwlgpk gsdcgivnvn
      421 iptsgaeigg afggekhtgg gresgsdawk qymrrstcti nyskdlplaq gikfq
//
LOCUS       NP_001338432             115 aa            linear   PRI 19-MAR-2023
DEFINITION  kinesin-like protein KIF6 isoform 6 [Homo sapiens].
ACCESSION   NP_001338432
VERSION     NP_001338432.1
DBSOURCE    REFSEQ: accession NM_001351503.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 115)
  AUTHORS   Velasco JJ, Li Y, Ziganshin BA, Zafar MA, Rizzo JA, Ma D, Zang H,
            Kalyanasundaram A and Elefteriades JA.
  TITLE     KIF6 Trp719Arg Genetic Variant Increases Risk for Thoracic Aortic
            Dissection
  JOURNAL   Genes (Basel) 14 (2), 252 (2023)
   PUBMED   36833179
  REMARK    GeneRIF: KIF6 Trp719Arg Genetic Variant Increases Risk for Thoracic
            Aortic Dissection.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 115)
  AUTHORS   Barbieri L, Verdoia M, Suryapranata H, Carugo S and De Luca G.
  TITLE     Impact of 719Trp>Arg Polymorphism of KIF 6 Gene on Contrast Induced
            Nephropathy in Patients Undergoing Coronary Angiography or
            Percutaneous Coronary Intervention
  JOURNAL   Glob Heart 17 (1), 16 (2022)
   PUBMED   35342690
  REMARK    GeneRIF: Impact of 719Trp>Arg Polymorphism of KIF 6 Gene on
            Contrast Induced Nephropathy in Patients Undergoing Coronary
            Angiography or Percutaneous Coronary Intervention.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 115)
  AUTHORS   Wojciechowicz B, Laguette MN, Sawczuk M, Huminska-Lisowska K,
            Maciejewska-Skrendo A, Ficek K, Michalowska-Sawczyn M,
            Leonska-Duniec A, Kaczmarczyk M, Chycki J, Trybek G, September AV
            and Cieszczyk P.
  TITLE     Are KIF6 and APOE polymorphisms associated with power and endurance
            athletes?
  JOURNAL   Eur J Sport Sci 21 (9), 1283-1289 (2021)
   PUBMED   32867607
  REMARK    GeneRIF: Are KIF6 and APOE polymorphisms associated with power and
            endurance athletes?
REFERENCE   4  (residues 1 to 115)
  AUTHORS   Konjikusic MJ, Yeetong P, Boswell CW, Lee C, Roberson EC, Ittiwut
            R, Suphapeetiporn K, Ciruna B, Gurnett CA, Wallingford JB,
            Shotelersuk V and Gray RS.
  TITLE     Mutations in Kinesin family member 6 reveal specific role in
            ependymal cell ciliogenesis and human neurological development
  JOURNAL   PLoS Genet 14 (11), e1007817 (2018)
   PUBMED   30475797
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 115)
  AUTHORS   Li Y, Chen Z and Song H.
  TITLE     Association between KIF6 rs20455 polymorphism and the risk of
            coronary heart disease (CHD): a pooled analysis of 50 individual
            studies including 40,059 cases and 64,032 controls
  JOURNAL   Lipids Health Dis 17 (1), 4 (2018)
   PUBMED   29304815
  REMARK    GeneRIF: The result suggests that KIF6 rs20455 polymorphism may not
            be associated with coronary heart disease susceptibility.
            (Meta-analysis)
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 115)
  AUTHORS   Shiffman D, Chasman DI, Zee RY, Iakoubova OA, Louie JZ, Devlin JJ
            and Ridker PM.
  TITLE     A kinesin family member 6 variant is associated with coronary heart
            disease in the Women's Health Study
  JOURNAL   J Am Coll Cardiol 51 (4), 444-448 (2008)
   PUBMED   18222354
  REMARK    GeneRIF: Confirming and extending previous reports, carriers of the
            719Arg allele of KIF6 have 34% higher risk of myocardial infarction
            and 24% higher risk of CHD compared with noncarriers among 25,283
            women from the WHS.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[J Am Coll Cardiol. 2008 Mar 4;51(9):977]
REFERENCE   7  (residues 1 to 115)
  AUTHORS   Iakoubova OA, Tong CH, Rowland CM, Kirchgessner TG, Young BA,
            Arellano AR, Shiffman D, Sabatine MS, Campos H, Packard CJ, Pfeffer
            MA, White TJ, Braunwald E, Shepherd J, Devlin JJ and Sacks FM.
  TITLE     Association of the Trp719Arg polymorphism in kinesin-like protein 6
            with myocardial infarction and coronary heart disease in 2
            prospective trials: the CARE and WOSCOPS trials
  JOURNAL   J Am Coll Cardiol 51 (4), 435-443 (2008)
   PUBMED   18222353
  REMARK    GeneRIF: In both the CARE and the WOSCOPS trials, carriers of the
            KIF6 719Arg allele had an increased risk of coronary events, and
            pravastatin treatment substantially reduced that risk.
            GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   8  (residues 1 to 115)
  AUTHORS   Shiffman D, O'Meara ES, Bare LA, Rowland CM, Louie JZ, Arellano AR,
            Lumley T, Rice K, Iakoubova O, Luke MM, Young BA, Malloy MJ, Kane
            JP, Ellis SG, Tracy RP, Devlin JJ and Psaty BM.
  TITLE     Association of gene variants with incident myocardial infarction in
            the Cardiovascular Health Study
  JOURNAL   Arterioscler Thromb Vasc Biol 28 (1), 173-179 (2008)
   PUBMED   17975119
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 115)
  AUTHORS   Bare LA, Morrison AC, Rowland CM, Shiffman D, Luke MM, Iakoubova
            OA, Kane JP, Malloy MJ, Ellis SG, Pankow JS, Willerson JT, Devlin
            JJ and Boerwinkle E.
  TITLE     Five common gene variants identify elevated genetic risk for
            coronary heart disease
  JOURNAL   Genet Med 9 (10), 682-689 (2007)
   PUBMED   18073581
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   10 (residues 1 to 115)
  AUTHORS   Miki H, Setou M, Kaneshiro K and Hirokawa N.
  TITLE     All kinesin superfamily protein, KIF, genes in mouse and human
  JOURNAL   Proc Natl Acad Sci U S A 98 (13), 7004-7011 (2001)
   PUBMED   11416179
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161439.15.
            
            Summary: This gene encodes a member of a family of molecular motors
            which are involved in intracellular transport of protein complexes,
            membrane organelles, and messenger ribonucleic acid along
            microtubules. Kinesins function as homodimeric molecules with two
            N-terminal head domains that move along microtubules and two
            C-terminal tail domains that interact with the transported cargo,
            either directly or indirectly, through adapter molecules. This gene
            is ubiquitously expressed in coronary arteries and other vascular
            tissue. A naturally occurring mutation in this gene is associated
            with coronary heart disease. [provided by RefSeq, May 2017].
            
            Transcript Variant: This variant (6) lacks a portion of the 3'
            coding region, contains an alternate 3' terminal exon, and differs
            in the 3' UTR, compared to variant 1. It encodes isoform 6 which
            has a shorter and distinct C-terminus, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1424314.1,
                                           SRR14038193.2555166.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..115
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.2"
     Protein         1..115
                     /product="kinesin-like protein KIF6 isoform 6"
                     /note="kinesin-like protein KIF6"
                     /calculated_mol_wt=12805
     Region          5..>84
                     /region_name="Motor_domain"
                     /note="Myosin and Kinesin motor domain; cl22853"
                     /db_xref="CDD:451428"
     CDS             1..115
                     /gene="KIF6"
                     /gene_synonym="C6orf102; dJ1043E3.1; dJ137F1.4; dJ188D3.1"
                     /coded_by="NM_001351503.2:99..446"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="GeneID:221458"
                     /db_xref="HGNC:HGNC:21202"
                     /db_xref="MIM:613919"
ORIGIN      
        1 mvkqtiqifa rvkppvrkhq qgiysidede klipsleiil prdladgfvn nkresykfkf
       61 qrifdqdanq etvfeniakp vagsptgtgs tqqvcssqgl qdeapvqlcs ifppk
//
LOCUS       XP_011542426             161 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C1orf100 isoform X2 [Homo sapiens].
ACCESSION   XP_011542426
VERSION     XP_011542426.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544124.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..161
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..161
                     /product="uncharacterized protein C1orf100 isoform X2"
                     /calculated_mol_wt=19036
     Region          15..155
                     /region_name="DUF5530"
                     /note="Family of unknown function (DUF5530); pfam17670"
                     /db_xref="CDD:435962"
     CDS             1..161
                     /gene="C1orf100"
                     /coded_by="XM_011544124.3:349..834"
                     /db_xref="GeneID:200159"
                     /db_xref="HGNC:HGNC:30435"
ORIGIN      
        1 msclacklvr fpsimtairl refierrpvi ppsifiahqg rdvqgyypgq larlhfdhsa
       61 kraprplidl tippktkyhy qpqldqqtli ryiclrrhsk paepwykett yrrdyslpfy
      121 eidwnqklat vslnprplns lpelycceer ssfernafkl k
//
LOCUS       XP_047285548             487 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-coupled neutral amino acid symporter 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047285548
VERSION     XP_047285548.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429592.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..487
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..487
                     /product="sodium-coupled neutral amino acid symporter 1
                     isoform X2"
                     /calculated_mol_wt=53917
     Region          69..474
                     /region_name="SLC5-6-like_sbd"
                     /note="Solute carrier families 5 and 6-like; solute
                     binding domain; cl00456"
                     /db_xref="CDD:444915"
     CDS             1..487
                     /gene="SLC38A1"
                     /gene_synonym="ATA1; NAT2; SAT1; SNAT1"
                     /coded_by="XM_047429592.1:928..2391"
                     /db_xref="GeneID:81539"
                     /db_xref="HGNC:HGNC:13447"
                     /db_xref="MIM:608490"
ORIGIN      
        1 mmhfksglel telqnmtvpe ddnisndsnd ftevengqin skfisdresr rsltnshlek
       61 kkcdeyipgt tslgmsvfnl snaimgsgil glafalantg illflvllts vtllsiysin
      121 lllicsketg cmvyeklgeq vfgttgkfvi fgatslqntg amlsylfivk nelpsaikfl
      181 mgkeetfsaw yvdgrvlvvi vtfgiilplc llknlgylgy tsgfslscmv fflivviykk
      241 fqipcivpel nstisanstn adtctpkyvt fnsktvyalp tiafafvchp svlpiyselk
      301 drsqkkmqmv snisffamfv myfltaifgy ltfydnvqsd llhkyqskdd ililtvrlav
      361 ivaviltvpv lfftvrsslf elakktkfnl crhtvvtcil lvvinllvif ipsmkdifgv
      421 vgvtsanmli filpsslylk itdqdgdkgt qriwaalflg lgvlfslvsi plviydwacs
      481 sssdegh
//
LOCUS       XP_047286581             323 aa            linear   PRI 20-MAR-2023
DEFINITION  dehydrogenase/reductase SDR family member 12 isoform X7 [Homo
            sapiens].
ACCESSION   XP_047286581
VERSION     XP_047286581.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430625.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..323
                     /product="dehydrogenase/reductase SDR family member 12
                     isoform X7"
                     /calculated_mol_wt=36038
     Region          40..>238
                     /region_name="NADB_Rossmann"
                     /note="Rossmann-fold NAD(P)(+)-binding proteins; cl21454"
                     /db_xref="CDD:451247"
     Site            order(47,49..50,52,71..73,125..127,179..181,201,205,
                     232..235)
                     /site_type="other"
                     /note="NAD(P) binding site [chemical binding]"
                     /db_xref="CDD:187535"
     Site            order(147,181,201,205)
                     /site_type="active"
                     /db_xref="CDD:187535"
     CDS             1..323
                     /gene="DHRS12"
                     /gene_synonym="SDR40C1"
                     /coded_by="XM_047430625.1:55..1026"
                     /db_xref="GeneID:79758"
                     /db_xref="HGNC:HGNC:25832"
                     /db_xref="MIM:616163"
ORIGIN      
        1 mslyrsvvwf akglreytks gyesackdfv phdlevqipg rvflvtggns gigkatalei
       61 akrggtvhlv crdqapaeda rgeiiresgn qniflhivdl sdpkqiwkfv enfkqehklh
      121 vlinnagcmv nkreltedgl eknfaantlg vyilttglip vlekehdprv itvssggmlv
      181 qklntndlqs ertpfdgtmv yaqnkvserq qvvlterwaq ghpaihfssm hpgwadtpdr
      241 neqelrkvvg eaqtasplpr fleimmhegk cqpqghssnd leacwssggg eqnslpdwph
      301 qlhdlrqltw alcssfllyk qgn
//
LOCUS       XP_047288324             481 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase ULK3 isoform X2 [Homo sapiens].
ACCESSION   XP_047288324
VERSION     XP_047288324.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432368.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..481
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..481
                     /product="serine/threonine-protein kinase ULK3 isoform X2"
                     /calculated_mol_wt=54639
     Region          46..280
                     /region_name="STKc_ULK3"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Unc-51-like kinase 3; cd14121"
                     /db_xref="CDD:271023"
     Site            order(109,111,148,150,152,171,186..189)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271023"
     Site            order(167..177,179..189)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271023"
     Region          290..364
                     /region_name="MIT_2"
                     /note="MIT: domain contained within Microtubule
                     Interacting and Trafficking molecules. This sub-family of
                     MIT domains is found in proteins with an n-terminal
                     serine/threonine kinase domain. The molecular function of
                     the MIT domain is unclear; cd02684"
                     /db_xref="CDD:239147"
     Region          385..453
                     /region_name="MIT"
                     /note="domain contained within Microtubule Interacting and
                     Trafficking molecules. The MIT domain is found in sorting
                     nexins, the nuclear thiol protease PalBH, the AAA protein
                     spastin and archaebacterial proteins with similar domain
                     architecture, vacuolar...; cl00299"
                     /db_xref="CDD:444817"
     CDS             1..481
                     /gene="ULK3"
                     /coded_by="XM_047432368.1:4..1449"
                     /db_xref="GeneID:25989"
                     /db_xref="HGNC:HGNC:19703"
                     /db_xref="MIM:613472"
ORIGIN      
        1 mqrngsasrg lektrlrlcr earipesafl tgltreswea rcwcakdtre vvaikcvakk
       61 slnkasvenl lteieilkgi rhphivqlkd fqwdsdniyl imefcaggdl srfihtrril
      121 pekvarvfmq qlasalqflh ernishldlk pqnillssle kphlkladfg faqhmspwde
      181 khvlrgsply mapemvcqrq ydarvdlwsm gvilyealfg qppfasrsfs eleekirsnr
      241 vielplrpll srdcrdllqr llerdpsrri sfqdffahpw vdlehmpsge slgratalvv
      301 qavkkdqegd saaalslyck aldffvpalh yevdaqrkea ikakvgqyvs raeelkaivs
      361 ssnqallrqg tsardllrem ardkprllaa levasaamak eeaaggeqda ldlyqhslge
      421 lllllaaepp grrrellhte vqnlmaraey lkeqmresrw eadtldkegl sesvrssctl
      481 q
//
LOCUS       XP_047289033            1366 aa            linear   PRI 20-MAR-2023
DEFINITION  inactive tyrosine-protein kinase PEAK1 isoform X2 [Homo sapiens].
ACCESSION   XP_047289033
VERSION     XP_047289033.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433077.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1366
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1366
                     /product="inactive tyrosine-protein kinase PEAK1 isoform
                     X2"
                     /calculated_mol_wt=149708
     CDS             1..1366
                     /gene="PEAK1"
                     /gene_synonym="SGK269"
                     /coded_by="XM_047433077.1:1055..5155"
                     /db_xref="GeneID:79834"
                     /db_xref="HGNC:HGNC:29431"
                     /db_xref="MIM:614248"
ORIGIN      
        1 msacntfteh vwkpgecknc fkpkslhqlp pdpekapith gnvktnanhs nnhrirntgn
       61 frppvakkpt iavkptmiva dgqsicgels iqehcenkpv iigwnrnraa lsqkplnnnn
      121 eddegishvp kpygnndsak kmsdnnnglt evlkeiagld tapqirgnet nsretflgri
      181 ndcykrsler klppscmigg iketqgkhvi lsgstevisn eggrfcypef ssgeeseedv
      241 lfsnmeeehe swdesdeell ameirmrgqp rfanfrantl spvrffvdkk wntiplrnks
      301 lqricavdyd dsydeilngy eensvvsygq gsiqsmvssd stspdsslte esrsetassl
      361 sqkicnggls pgnpgdskdm keiepnyesp ssnnqdkdss qaskssikvp ethkavlalr
      421 leekdgkiav qtekeeskas tdvagqavti nlvpteeqak pyrvvnleqp lckpytvvdv
      481 saamasehle gpvnspktks ssstpnspvt sssltpgqis ahfqkssair yqevwtssts
      541 prqkipkvel itsgtgpnvp prknchksap tsptatniss ktipvkspnl seikfnsynn
      601 agmppfpiii hdeptyarss knaikvpivi npnaydnlai yksflgtsge lsvkekttsv
      661 ishtyeeiet eskvpdntts kttdclqtkg fsnstehkrg svaqkvqefn nclnrgqssp
      721 qrsyssshss pakiqratqe pvakiegtqe sqmvgssstr ekastvlsqi vasiqppqsp
      781 petpqsgpka csveelyaip pdadvakstp kstpvrpksl ftsqpsgeae apqttdsptt
      841 kvqkdpsikp vtpspsklvt spqseppapf ppprstsspy hagnllqrhf tnwtkptspt
      901 rsteaesvlh segsrraada kpkrwisfks ffrrrktdee ddkekerekg klvgldgtvi
      961 hmlppppvqr hhwfteakge ssekpaivfm yrcdpaqgql svdqskartd qaavmekgra
     1021 enallqdsek krshsspsqi pkkilshmth evtedfsprd prtvvgkqdg rgctsvttal
     1081 slpeleredg kedisdpmdp npcsatysnl gqsraamipp kqprqpkgav ddaiafggkt
     1141 dqeapnasqp tppplpkkmi irantepisk dlqksmessl cvmanptydi dpnwdassag
     1201 ssisyelkgl diesydsler plrkerpvps aansissltt lsikdrfsns meslssrrgp
     1261 scrqgrgiqk pqrqalyrgl enreevvgki rslhtdalkk lavkcedlfm agqkdqlrfg
     1321 vdswsdfrlt sdkpcceagd avyytasyak dplnnyavkd ssgdfc
//
LOCUS       XP_047289334            1479 aa            linear   PRI 20-MAR-2023
DEFINITION  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate
            kinase 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047289334
VERSION     XP_047289334.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433378.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1479
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1479
                     /product="inositol hexakisphosphate and
                     diphosphoinositol-pentakisphosphate kinase 1 isoform X1"
                     /calculated_mol_wt=164271
     Region          55..144
                     /region_name="PPIP5K2_N"
                     /note="Diphosphoinositol pentakisphosphate kinase 2
                     N-terminal domain; pfam18086"
                     /db_xref="CDD:436261"
     Region          390..906
                     /region_name="His_Phos_2"
                     /note="Histidine phosphatase superfamily (branch 2);
                     pfam00328"
                     /db_xref="CDD:395259"
     CDS             1..1479
                     /gene="PPIP5K1"
                     /gene_synonym="HISPPD2A; hsVIP1; IP6K; IPS1; VIP1"
                     /coded_by="XM_047433378.1:516..4955"
                     /db_xref="GeneID:9677"
                     /db_xref="HGNC:HGNC:29023"
                     /db_xref="MIM:610979"
ORIGIN      
        1 mwsltasege sttahfflga gdeglgtrgi gmrpeesdse lledeedevp pepqiivgic
       61 amtkkskskp mtqilerlcr fdyltvvilg edvilnepve nwpschclis fhskgfpldk
      121 avaysklrnp flindlamqy yiqdrrevyr ilqeegidlp ryavlnrdpa rpeecnlieg
      181 edqvevngav fpkpfvekpv saedhnvyiy ypssagggsq rlfrkigsrs svyspessvr
      241 ktgsyiyeef mptdgtdvkv ytvgpdyaha earkspaldg kverdsegke irypvmltam
      301 eklvarkvcv afkqtvcgfd llranghsfv cdvngfsfvk nsmkyyddca kilgntimre
      361 lapqfqipws ipteaedipi vpttsgtmme lrcviaiirh gdrtpkqkmk mevkhprffa
      421 lfekhggykt gklklkrpeq lqevlditrl llaelekepg geieektgkl eqlksvlemy
      481 ghfsginrkv qltyyphgvk asnegqdpqr etlapslllv lkwggeltpa grvqaeelgr
      541 afrcmypggq gdyagfpgcg llrlhstfrh dlkiyasdeg rvqmtaaafa kgllalegel
      601 tpilvqmvks anmnglldsd gdslsscqhr vkarlhhilq qdapfgpedy dqlaptrsts
      661 llnsmtiiqn pvkvcdqvfa lienlthqir ermqdprsvd lqlyhsetle lmlqrwskle
      721 rdfrqksgry diskipdiyd cvkydvqhng slglqgtael lrlskaladv vipqeygisr
      781 eekleiavgf clpllrkill dlqrthedes vnklhplysr gvlspgrhvr trlyftsesh
      841 vhsllsvfry gglldetqda qwqraldyls aiselnymtq ivimlyednt qdplseerfh
      901 velhfspgvk gveeegsapa gcgfrpasse neemktnqgs menlcpgkas depdralqts
      961 pqppegpglp rrsplirnrk agsmevmnmq ctgnldlipl rgrrcrrsgd lpqpslaigl
     1021 qpravstthl asctqvlset sssrpggyrl fsssrpptem kqsglgsqct glfsttvlgg
     1081 sssapnlqdy arshgkklpp aslkhrdell fvpavkrfsv sfakhptngf egcsmvptiy
     1141 pletlhnals lrqvseflsr vcqrhtdaqa qasaalfdsm hssqasdnpf spprtlhspp
     1201 lqlqqrsekp pwyssgpsst vssagpsspt tvdgnsqfgf sdqpslnshv aeehqglgll
     1261 qetpgsgaqe lsiegeqelf epnqspqvpp metsqpyeev sqpcqevpdi sqpcqdisea
     1321 lsqpcqkvpd isqqcqenhd ngnhtcqevp hisqpcqkss qlcqkvseev cqlclensee
     1381 vsqpcqgvsv evgklvhkfh vgvgslvqet lvevgspaee ipeeviqpyq efsvevgrla
     1441 qetsainlls qgipeidkps qefpeeidlq aqevpeein
//
LOCUS       XP_011521350             633 aa            linear   PRI 20-MAR-2023
DEFINITION  bromodomain-containing protein 7 isoform X3 [Homo sapiens].
ACCESSION   XP_011521350
VERSION     XP_011521350.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523048.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..633
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..633
                     /product="bromodomain-containing protein 7 isoform X3"
                     /calculated_mol_wt=72173
     Region          152..249
                     /region_name="Bromo_brd7_like"
                     /note="Bromodomain, brd7_like subgroup. The BRD7 gene
                     encodes a nuclear protein that has been shown to inhibit
                     cell growth and the progression of the cell cycle by
                     regulating cell-cycle genes at the transcriptional level.
                     BRD7 has been identified as a gene...; cd05513"
                     /db_xref="CDD:99945"
     Site            order(177,182,185,224,228,234)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99945"
     Region          315..466
                     /region_name="DUF3512"
                     /note="Domain of unknown function (DUF3512); pfam12024"
                     /db_xref="CDD:432270"
     CDS             1..633
                     /gene="BRD7"
                     /gene_synonym="BP75; CELTIX1; NAG4; SMARCI1"
                     /coded_by="XM_011523048.3:215..2116"
                     /db_xref="GeneID:29117"
                     /db_xref="HGNC:HGNC:14310"
                     /db_xref="MIM:618489"
ORIGIN      
        1 mgkkhkkhks dkhlyeeyve kplklvlkvg gnevtelstg ssghdsslfe dkndhdkhkd
       61 rkrkkrkkge kqipgeekgr krrrvkvqvv tllwlcgrhc lfqedkkkrd rdrveneaek
      121 dlqchapvrl dlppekplts slakqeeveq tplqealnql mrqlqrkdps affsfpvtdf
      181 iapgysmiik hpmdfstmke kiknndyqsi eelkdnfklm ctnamiynkp etiyykaakk
      241 llhsgmkils qeriqslkqs idfmadlqkt rkqkdgtdts qsgedggcwq reredsgdae
      301 ahafkspske nkkkdkdmle dkfksnnler eqeqldrivk esggkltrrl vnsqceferr
      361 kpdgtttlgl lhpvdpivgv lylnygpyss yaphydstfa niskddsdli ystygedsdl
      421 psdfsihefl atcqdypyvm adslldvltk gghsrtlqem emslpedegh trtldtakem
      481 eqiteveppg rldsstqdrl ialkavtnfg vpvevfdsee aeifqkklde ttrllrelqe
      541 aqnerlstrp ppnmicllgp syremhlaeq vtnnlkelaq qvtpgdivst ygvrkamgis
      601 ipspvmennf vdltedteep kktdvaecgp ggs
//
LOCUS       XP_016879860             721 aa            linear   PRI 20-MAR-2023
DEFINITION  rap1 GTPase-activating protein 2 isoform X4 [Homo sapiens].
ACCESSION   XP_016879860
VERSION     XP_016879860.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017024371.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..721
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..721
                     /product="rap1 GTPase-activating protein 2 isoform X4"
                     /calculated_mol_wt=79021
     Region          269..448
                     /region_name="Rap_GAP"
                     /note="Rap/ran-GAP; pfam02145"
                     /db_xref="CDD:426620"
     CDS             1..721
                     /gene="RAP1GAP2"
                     /gene_synonym="GARNL4; RAP1GA3"
                     /coded_by="XM_017024371.2:144..2309"
                     /db_xref="GeneID:23108"
                     /db_xref="HGNC:HGNC:29176"
                     /db_xref="MIM:618714"
ORIGIN      
        1 mcswpsswpv pamprkpwkq elanssdatl pdrplspplt apptmkssef femlekmqgi
       61 kleeqkpgpq knkddyipyp sidevvekgg pypqvilpqf ggywiedpen vgtptslgss
      121 iceeeeednl spntfgykle ckgearayrr hflgkdhlnf yctgsslgnl ilsvkceeae
      181 gieylrvilr sklktvheri plaglsklps vpqiakafcd davglrfnpv lypkasqmiv
      241 sydehevnnt fkfgviyqka rqtleeelfg nneespafke fldllgdtit lqdfkgfrgg
      301 ldvthgqtgv esvyttfrdr eimfhvstkl pftdgdaqql qrkrhigndi vaiifqeent
      361 pfvpdmiasn flhayivvqv etpgtetpsy kvsvtaredv ptfgpplpsp pvfqkgpefr
      421 eflltkltna enaccksdkf akledrtraa lldnlhdelh ahtqamlglg peedkfengg
      481 hggflesfkr airvrshsme tmvggqkksh sggipgslsg gishnsmevt kttfsppvva
      541 atvknqsrsp ikrrsglfpr lhtgsegqgd srarcdstss tpktpdgghs sqeiksetss
      601 npsspeicpn kekpfmklke ngraisrsss stssvsstag egeameegds ggsqpsttsp
      661 fkqevfvysp spssespslg aaatpiimsr sptdaksrns prsnlkfrfd klshassgag
      721 h
//
LOCUS       XP_016859597            1681 aa            linear   PRI 20-MAR-2023
DEFINITION  latent-transforming growth factor beta-binding protein 1 isoform X4
            [Homo sapiens].
ACCESSION   XP_016859597
VERSION     XP_016859597.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004108.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1681
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1681
                     /product="latent-transforming growth factor beta-binding
                     protein 1 isoform X4"
                     /calculated_mol_wt=182317
     Region          567..602
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          626..>656
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(626,629,643)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          688..729
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          896..918
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          915..956
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(915,918,933)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          957..997
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(957,960,974)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          998..1037
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(998,1001,1015)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1039..1070
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1039,1042,1056)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1080..1120
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1080,1083,1097)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1121..1151
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(1121,1124,1139)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1162..1203
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1162,1165,1180)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1204..1245
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1204,1207,1222)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1319..1361
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          1427..>1453
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          1495..1537
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          1602..1625
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          1622..>1656
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1622,1625,1643)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     CDS             1..1681
                     /gene="LTBP1"
                     /gene_synonym="ARCL2E"
                     /coded_by="XM_017004108.2:373..5418"
                     /db_xref="GeneID:4052"
                     /db_xref="HGNC:HGNC:6714"
                     /db_xref="MIM:150390"
ORIGIN      
        1 magawlrwgl llwagllass ahgrlrrity vvhpgpglaa galplsgppr srtfnvalna
       61 rysrssaaag apsraspgvp sertrrtskp ggaalqglrp ppppppepar pavpggqlhp
      121 npgghpaaap ftkqgrqvvr skvpqetqsg ggsrlqvhqk qqlqgvnvcg grcchgwska
      181 pgsqrctkps cvppcqnggm clrpqlcvck pgtkgkacet iaaqdtsspv fggqspgaas
      241 swgppeqaak htsskkadtl prvspvaqmt ltlkpkpsvg lpqqihsqvt plssqsvvih
      301 hgqtqeyvlk pkyfpaqkgi sgeqstegsf plryvqdqva apfqlsnhtg rikvvftpsi
      361 ckvtctkgsc qnscekgntt tlisenghaa dtltatnfrv vichlpcmng gqcssrdkcq
      421 cppnftgklc qipvhgasvp klyqhsqqpg kalgthvihs thtlpltvts qqgvkvkfpp
      481 nivnihvkhp peasvqihqv sridgptgqk tkeaqpgqsq vsyqglpvqk tqtihstysh
      541 qqviphvypv aaktqlgrcf qetigsqcgk alpglskqed ccgtvgtswg fnkcqkcpkk
      601 psyhgynqmm eclpgykrvn ntfcqdinec qlqgvcpnge clntmgsyrc tckigfgpdp
      661 tfsscvpdpp viseekgpcy rlvssgrqcm hplsvhltkq lcccsvgkaw gphcekcplp
      721 gtaafkeicp ggmgytvsgv hrrrpihhhv gkgpvfvkpk ntqpvaksth ppplpakeep
      781 vealtfsreh gpgvaepeva tappekeips ldqektklep gqpqlspgis tihlhpqfpv
      841 viektsppvp vevapeasts sasqviaptq vteinectvn pdicgaghci nlpvrytcic
      901 yegyrfseqq rkcvdidect qvqhlcsqgr centegsflc icpagfmase egtncidvde
      961 clrpdvcgeg hcvntvgafr ceycdsgyrm tqrgrcedvd eclepnvcan gdcsnlegsy
     1021 mcschkgytr tpdhkhcrdi decqqgnlcv ngqckntegs frctcgqgyq lsaakdqced
     1081 idecqhrhlc ahgqcrnteg sfqcvcdqgy rasglgdhce dinecledks vcqrgdcint
     1141 agsydctcpd gfqlddnktc qdinecehpg lcgpqgecln tegsfhcvcq qgfsisadgr
     1201 tcedidecvn ntvcdshgfc dntagsfrcl cyqgfqapqd gqgcvdvnec ellsgvcgea
     1261 fcenvegsfl cvcadenqey spmtgqcrsr tstdldvdvd qpkeekkecy ynlndaslcd
     1321 nvlapnvtkq eccctsgvgw gdnceifpcp vlgtaeftem cpkgkgfvpa gessseagge
     1381 nykdadecll fgqeickngf clntrpgyec yckqgtyydp vklqcfdmde cqdpsscidg
     1441 qcvntegsyn cfcthpmvld asekrcirpa esneqieetd vyqdlcwehl sdeyvcsrpl
     1501 vgkqttytec cclygeawgm qcalcplkds ddyaqlcnip vtgrrqpygr dalvdfseqy
     1561 tpeadpyfiq drflnsfeel qaeecgilng cengrcvrvq egytcdcfdg yhldtakmtc
     1621 vdvnecdeln nrmslcknak cintdgsykc lclpgyvpsd kpnyctplnt alnlekdsdl
     1681 e
//
LOCUS       XP_024307916             553 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase Chk2 isoform X6 [Homo sapiens].
ACCESSION   XP_024307916
VERSION     XP_024307916.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024452148.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..553
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..553
                     /product="serine/threonine-protein kinase Chk2 isoform X6"
                     /calculated_mol_wt=61928
     Region          103..214
                     /region_name="FHA_CHK2"
                     /note="forkhead associated (FHA) domain found in
                     checkpoint kinase 2 (Chk2) and similar proteins; cd22666"
                     /db_xref="CDD:438718"
     Site            order(127..129,146..151,176,202)
                     /site_type="other"
                     /note="phosphopeptide binding site [polypeptide binding]"
                     /db_xref="CDD:438718"
     Region          223..496
                     /region_name="STKc_Chk2"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Cell cycle Checkpoint Kinase 2; cd14084"
                     /db_xref="CDD:270986"
     Site            order(231..232,234,236,238,246,248,253,255,264,267..269,
                     279,313,320,324..325,400,435,438)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:270986"
     Site            order(236..242,244,257,259,296,311..314,318,320,356..357,
                     359,361..362,364,377..378,381,395..399,401)
                     /site_type="active"
                     /db_xref="CDD:270986"
     Site            order(236..242,244,257,259,296,311..314,318,361..362,364,
                     378)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270986"
     Site            order(240,318,320,356..357,359,361,381,395..399,401)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270986"
     Site            order(377..387,391..399)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270986"
     CDS             1..553
                     /gene="CHEK2"
                     /gene_synonym="CDS1; CHK2; hCds1; HuCds1; LFS2; PP1425;
                     RAD53"
                     /coded_by="XM_024452148.2:1542..3203"
                     /db_xref="GeneID:11200"
                     /db_xref="HGNC:HGNC:16627"
                     /db_xref="MIM:604373"
ORIGIN      
        1 mlrlltsmvv msresdveaq qshgssacsq phgsvtqsqg sssqsqgiss sststmpnss
       61 qsshsssgtl ssletvstqe lysipedqep edqepeeptp apwarlwalq dgfanlecvn
      121 dnywfgrdks ceycfdepll krtdkyrtys kkhfrifrev gpknsyiayi edhsgngtfv
      181 ntelvgkgkr rplnnnseia lslsrnkvfv ffdltvddqs vypkalrdey imsktlgsga
      241 cgevklafer ktckkvaiki iskrkfaigs areadpalnv eteieilkkl nhpciikikn
      301 ffdaedyyiv lelmeggelf dkvvgnkrlk eatcklyfyq mllavqylhe ngiihrdlkp
      361 envllssqee dclikitdfg hskilgetsl mrtlcgtpty lapevlvsvg tagynravdc
      421 wslgvilfic lsgyppfseh rtqvslkdqi tsgkynfipe vwaevsekal dlvkkllvvd
      481 pkarftteea lrhpwlqded mkrkfqdlls eenestalpq vlaqpstsrk rpregeaega
      541 ettkrpavca avl
//
LOCUS       XP_047274273            1063 aa            linear   PRI 20-MAR-2023
DEFINITION  protein broad-minded isoform X11 [Homo sapiens].
ACCESSION   XP_047274273
VERSION     XP_047274273.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418317.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1063
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1063
                     /product="protein broad-minded isoform X11"
                     /calculated_mol_wt=121779
     Region          12..1040
                     /region_name="BROMI"
                     /note="Broad-minded protein; pfam14961"
                     /db_xref="CDD:434350"
     CDS             1..1063
                     /gene="TBC1D32"
                     /gene_synonym="BROMI; C6orf170; C6orf171"
                     /coded_by="XM_047418317.1:114..3305"
                     /db_xref="GeneID:221322"
                     /db_xref="HGNC:HGNC:21485"
                     /db_xref="MIM:615867"
ORIGIN      
        1 mahfssedqa mlqamlrrlf qsvkekitga pslecaeeil lhleetdenf hnyefvkylr
       61 qhigntlgsm ieeemekcts drnqgeecgy dtvvqqvtkr tqeskeykem mhylknimia
      121 vvesminkfe edetrnqerq kkiqkekshs yrtdncsdsd sslnqsykfc qgklqlildq
      181 ldpgqpkevr yealqtlcsa ppsdvlncen wttlcekltv slsdpdpvfs drilkfcaqt
      241 fllsplhmtk eiytslakyl esyflsrenh iptlsagvdi tnpnmtrllk kvrllneyqk
      301 eapsfwirhp ekymeeives tlslltvkhn qshvvsqkil dpiyffalvd tkavwfkkwm
      361 hahysrttvl rlletkyksl vttaiqqcvq yfemcktrka detlghskhc rnkqktfyyl
      421 gqelqyiyfi hslcllgrll iykqgrklfp iklknkkglv slidllvlft qliyyspscp
      481 kmtsaahsen yspasmvtev lwilsdqkec aveclynniv ietllqpihn lmkgneaspn
      541 csetalihia gilariasve eglilllyga nmnsseespt gahiiaqfsk klldedisif
      601 sgsemlpvvk gafisvcrhi ystceglqvl itynlhesia kawkktslls eriptpvegs
      661 dsvssvsqes qnimawednl lddllhfaat pkgllllqrt gainecvtfi fnryakklqv
      721 srhkkfgygv lvtrvastaa ggialkksgf inelitelws nleygrddvr vthprttpvd
      781 pidrscqksf lalvnllsyp aiyelvrnqd lpnkteyslr evptcvidii drliilnsea
      841 kirslfnyeq shifglrlls viccdldtll lleaqyqvse mllnaqeeni leiseshrdf
      901 iidglsvern hvlvrinlvg gplerilppr lleksdnpyp wpmfssyplp ncylsditrn
      961 agikqdndld klllclkisd kqtewiencq rqfckmmkak pdiisgeali ellekfvlhl
     1021 tespsecyfp sveytddynn yfakktwpag rnsfilpsyv tih
//
LOCUS       XP_047277265             596 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine zipper putative tumor suppressor 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047277265
VERSION     XP_047277265.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421309.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..596
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..596
                     /product="leucine zipper putative tumor suppressor 1
                     isoform X1"
                     /calculated_mol_wt=66482
     Region          <263..>486
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          380..565
                     /region_name="Fez1"
                     /note="pfam06818"
                     /db_xref="CDD:429136"
     CDS             1..596
                     /gene="LZTS1"
                     /gene_synonym="F37; FEZ1"
                     /coded_by="XM_047421309.1:213..2003"
                     /db_xref="GeneID:11178"
                     /db_xref="HGNC:HGNC:13861"
                     /db_xref="MIM:606551"
ORIGIN      
        1 mgsvsslisg hsfhskhcra sqyklrkssh lkklnrysdg llrfgfsqds ghgkssskmg
       61 ksedffyikv sqkargshhp dytalssgdl ggqagvdfdp stppklmpfs nqlemgsekg
      121 avrptafkpv lprsgailhs spesashqlh pappdkpkeq elkpglcsga lsdsgrnsms
      181 slpthstsss yqldplvtpv gptsrfggsa hnitqgivlq dsnmmslkal sfsdggsklg
      241 hsnkadkgps cvrspistde csiqeleqkl leregalqkl qrsfeekela sslayeerpr
      301 rcrdelegpe pkggnklkqa sqksqraqqv lhlqvlqlqq ekrqlrqele slmkeqdlle
      361 tklrsyerek tsfgpaleet qwevcqksge isllkqqlke sqtevnakas eilglkaqlk
      421 dtrgklegle lrtqdlegal rtkglelevc enelqrkkne aellrekvnl leqelqelra
      481 qaalardmgp ptfpedvpal qrelerlrae lreerqghdq mssgfqherl vwkeekekvi
      541 qyqkqlqqsy vamyqrnqrl ekalqqlarg dsageplevd legadipyed iiatei
//
LOCUS       XP_006724571             329 aa            linear   PRI 20-MAR-2023
DEFINITION  sex comb on midleg-like protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_006724571
VERSION     XP_006724571.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006724508.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..329
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..329
                     /product="sex comb on midleg-like protein 1 isoform X2"
                     /calculated_mol_wt=37316
     Region          252..323
                     /region_name="SAM_Scm"
                     /note="SAM domain of Scm proteins of Polycomb group;
                     cd09578"
                     /db_xref="CDD:188977"
     Site            order(271,307..310,312..313,316,319)
                     /site_type="other"
                     /note="oligomer interface EH [polypeptide binding]"
                     /db_xref="CDD:188977"
     Site            order(284..288,290..291,294..295,298..299,301..304)
                     /site_type="other"
                     /note="oligomer interface ML [polypeptide binding]"
                     /db_xref="CDD:188977"
     CDS             1..329
                     /gene="SCML1"
                     /coded_by="XM_006724508.5:6695..7684"
                     /db_xref="GeneID:6322"
                     /db_xref="HGNC:HGNC:10580"
                     /db_xref="MIM:300227"
ORIGIN      
        1 mmsnssseid viktriptyd eddntilyay etkpefvnke pnivsdascn teeqlktvdd
       61 vlihcqviyd alqnldkkid virrkvskiq rfharslwtn hkrygykkhs yrlvkklklq
      121 kmkknevyet fsypesyspt lpvsrrenns psnlprpsfc meeyqraele edpilsrtps
      181 pvhpsdfseh ncqpyyasdg atygsssglc lgnpradsih ntystdhasa appsvtrspv
      241 endgyieegs itkhpstwsv eavvlflkqt dplalcplvd lfrsheidgk alllltsdvl
      301 lkhlgvklgt avklcyyidr lkqgkcfen
//
LOCUS       XP_054188298             240 aa            linear   PRI 20-MAR-2023
DEFINITION  adiponectin receptor protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054188298
VERSION     XP_054188298.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332323.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_018654718.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.33"
     Protein         1..240
                     /product="adiponectin receptor protein 2 isoform X2"
                     /calculated_mol_wt=27504
     CDS             1..240
                     /gene="ADIPOR2"
                     /gene_synonym="ACDCR2; PAQR2"
                     /coded_by="XM_054332323.1:231..953"
                     /db_xref="GeneID:79602"
                     /db_xref="HGNC:HGNC:24041"
                     /db_xref="MIM:607946"
ORIGIN      
        1 mneptenrlg csrtpepdir lrkghqldgt rrgdndshqg dlepileasv lsshhkksse
       61 eheysdeapq edegfmgmsp llqahhamek meefvckvwe grwrviphdv lpdwlkdndf
      121 llhghrppmp sfracfksif rihtetgniw thllgcvffl clgifymfrp nisfvaplqe
      181 kvvfglfflg ailclsfswl fhtvychseg vsrlfsksvf gprpewnhsy lalchlggvp
//
LOCUS       XP_054189810             208 aa            linear   PRI 20-MAR-2023
DEFINITION  peptidyl-prolyl cis-trans isomerase E isoform X6 [Homo sapiens].
ACCESSION   XP_054189810
VERSION     XP_054189810.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054333835.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..208
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..208
                     /product="peptidyl-prolyl cis-trans isomerase E isoform
                     X6"
                     /calculated_mol_wt=22657
     CDS             1..208
                     /gene="PPIE"
                     /gene_synonym="CYP-33; CYP33"
                     /coded_by="XM_054333835.1:20..646"
                     /db_xref="GeneID:10450"
                     /db_xref="HGNC:HGNC:9258"
                     /db_xref="MIM:602435"
ORIGIN      
        1 mattkrvlyv gglaeevddk vlhaafipfg ditdiqipld yetekhrgfa fvefelaeda
       61 aaaidnmnes elfgrtirvn lakpmrikeg ssrpvwsddd wlkkfsgktl eenkeeegse
      121 ppkaetqeri saacalmkra lalreaasta sspsscarav isqttmalga spsmgrssmm
      181 ktlsssirdq vyypwptlaq tpmalsss
//
LOCUS       XP_054189913             453 aa            linear   PRI 20-MAR-2023
DEFINITION  S-adenosylhomocysteine hydrolase-like protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054189913
VERSION     XP_054189913.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054333938.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..453
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..453
                     /product="S-adenosylhomocysteine hydrolase-like protein 1
                     isoform X2"
                     /calculated_mol_wt=50069
     CDS             1..453
                     /gene="AHCYL1"
                     /gene_synonym="DCAL; IRBIT; PPP1R78; PRO0233; XPVKONA"
                     /coded_by="XM_054333938.1:290..1651"
                     /db_xref="GeneID:10768"
                     /db_xref="HGNC:HGNC:344"
                     /db_xref="MIM:607826"
ORIGIN      
        1 msmpdamplp gvgeelkqak eiedaekysf matvtkapkk qiqfaddmqe ftkfptktgr
       61 rslsrsisqs stdsyssaas ytdssddevs prekqqtnsk gssnfcvkni kqaefgrrei
      121 eiaeqdmsal islrkraqge kplagakivg cthitaqtav lietlcalga qcrwsacniy
      181 stqnevaaal aeagvavfaw kgeseddfww cidrcvnmdg wqanmilddg gdlthwvykk
      241 ypnvfkkirg iveesvtgvh rlyqlskagk lcvpamnvnd svtkqkfdnl yccresildg
      301 lkrttdvmfg gkqvvvcgyg evgkgccaal kalgaivyit eidpicalqa cmdgfrvvkl
      361 nevirqvdvv itctgnknvv trehldrmkn scivcnmghs nteidvtslr tpeltwervr
      421 sqvdhviwpd gkrvvllaet qmdlqkigks les
//
LOCUS       XP_054223739             418 aa            linear   PRI 20-MAR-2023
DEFINITION  CWF19-like protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054223739
VERSION     XP_054223739.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367764.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..418
                     /product="CWF19-like protein 2 isoform X2"
                     /calculated_mol_wt=48587
     CDS             1..418
                     /gene="CWF19L2"
                     /coded_by="XM_054367764.1:104..1360"
                     /db_xref="GeneID:143884"
                     /db_xref="HGNC:HGNC:26508"
ORIGIN      
        1 mgsperesih ilsvdeknkl gakiikaemm gnmelaeqlk vqlekankfk etitqipkks
       61 gvenedqqev ilvrtdqsgr vwpvntpgks lesqggrrkr qmvstheere rvryfhdddn
      121 lslndlvkne kmgtaenqnk lfmrmaskfm gktdgdyytl ddmfvskaae rerlgeeeen
      181 qrkkaiaehr slaaqmekcl ycfdssqfpk hlivaigvkv ylclpnvrsl teghclivpl
      241 qhhraatlld ediweeiqmf rkslvkmfed kgldciflet nmsmkkqyhm vyeciplpke
      301 vgdmapiyfk kaimesdeew smnkklidls skdirksvpr glpyfsvdfg lhggfahvie
      361 dqhkfphyfg keiiggmldi eprlwrkgir esfedqrkka lqfaqwwkpy dftkskny
//
LOCUS       XP_047302152             243 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124907020 [Homo sapiens].
ACCESSION   XP_047302152
VERSION     XP_047302152.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047446196.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..243
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..243
                     /product="uncharacterized protein LOC124907020"
                     /calculated_mol_wt=25290
     CDS             1..243
                     /gene="LOC124907020"
                     /coded_by="XM_047446196.1:1398..2129"
                     /db_xref="GeneID:124907020"
ORIGIN      
        1 mlmqqveksg eaqeeegvip rtplpfrqll rparrvlesl astqgaclph grhpkvarsp
       61 lghgyrtpgl qgevevaggk sgeaeeagii pqrpvpslqp lrgaqgvves paspcvsphr
      121 gpskaarspp ghgdgmpglr gyveaaqgkq qrgrgggcgc stdgsafpea paqgregcgv
      181 pdlhpgcvsp praapqsgkk fpmgqgqdar laggrwgiwg kkrrgprrrl gfsrrgqcls
      241 gnp
//
LOCUS       XP_054176859             500 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-12 receptor subunit beta-1 isoform X17 [Homo sapiens].
ACCESSION   XP_054176859
VERSION     XP_054176859.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320884.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..500
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..500
                     /product="interleukin-12 receptor subunit beta-1 isoform
                     X17"
                     /calculated_mol_wt=54986
     CDS             1..500
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /coded_by="XM_054320884.1:138..1640"
                     /db_xref="GeneID:3594"
                     /db_xref="HGNC:HGNC:5971"
                     /db_xref="MIM:601604"
ORIGIN      
        1 mnvaqefqlr rrqlgsqgss wskwsspvcv ppvglvliae nppqpqvrfs veqlgqdgrr
       61 rltlkeqptq lelpegcqgl apgtevtyrl qlhmlscpck akatrtlhlg kmpylsgaay
      121 nvavissnqf gpglnqtwhi padthtepva lnisvgtngt tmywparaqs mtyciewqpv
      181 gqdgglatcs ltapqdpdpa gmatyswsre sgamgqekcy yitifasahp ekltlwstvl
      241 styhfggnas aagtphhvsv knhsldsvsv dwapsllstc pgvlkeyvvr crdedskqvs
      301 ehpvqptetq vtlsglragv aytvqvradt awlrgvwsqp qrfsievqvs dwliffaslg
      361 sflsillvgv lgylglnraa rhlcpplptp cassaiefpg gketwqwinp vdfqeeaslq
      421 ealvvemswd kgerteplek telpegapel aldtelsled gdrheerlsq sqrlvikhlw
      481 htqpipsthm ipyqiptttp
//
LOCUS       XP_054177961             617 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 221 isoform X1 [Homo sapiens].
ACCESSION   XP_054177961
VERSION     XP_054177961.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321986.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..617
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..617
                     /product="zinc finger protein 221 isoform X1"
                     /calculated_mol_wt=71198
     CDS             1..617
                     /gene="ZNF221"
                     /coded_by="XM_054321986.1:1599..3452"
                     /db_xref="GeneID:7638"
                     /db_xref="HGNC:HGNC:13014"
ORIGIN      
        1 mispslellh sglckfpeve gkmttfkeav tfkdvavvft eeelglldpa qrklyrdvml
       61 enfrnllsvg nqpfhqdtfh flgkekfwkm kttsqregns ggkiqiemet vpeagpheew
      121 scqqiweqia sdltrsqnsi rnssqffkeg dvpcqiearl sishvqqkpy rcneckqsis
      181 dvsvfdlhqq shsgekshtc gecgksfcys palhihqrvh mgekcykcdv cgkefnqssh
      241 lqthqrvhtg ekpfkrgqcg kgfhsrsaln vhcklhtgek pynceecgka fihdsqlqeh
      301 qrihtgekpf kcdicgksfr vrsrlnrhsm vhtgekpfrc dtcgknfrqr salnshsmvh
      361 ieekpykceq cgkgficrrd fckhqmvhtg ekpynckecg ktfrwsscll nhqqvhsgqk
      421 sfkceecgkg fytnsrrssh qrshngekpy nceecgkdyk rrldlefhqr vhtgerpync
      481 kecgksfgwa scllkhqrlh sgekpfkcee cgkrftqstq lhshqtchtg eklykceqce
      541 kgynskfnld mhqrvhrger pynckecgks fgwascllkh qrlhsgekpl ksgvweeiys
      601 eftasftsvs lcgrkai
//
LOCUS       XP_054178369             261 aa            linear   PRI 20-MAR-2023
DEFINITION  transcriptional enhancer factor TEF-4 isoform X11 [Homo sapiens].
ACCESSION   XP_054178369
VERSION     XP_054178369.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322394.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..261
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..261
                     /product="transcriptional enhancer factor TEF-4 isoform
                     X11"
                     /calculated_mol_wt=29326
     CDS             1..261
                     /gene="TEAD2"
                     /gene_synonym="ETF; TEAD-2; TEF-4; TEF4"
                     /coded_by="XM_054322394.1:135..920"
                     /db_xref="GeneID:8463"
                     /db_xref="HGNC:HGNC:11715"
                     /db_xref="MIM:601729"
ORIGIN      
        1 matsnckggw eryeppqals plppptpspp awqarglgta rlqlvefsaf veppdavdsy
       61 qrhlfvhisq hcpspgappl esvdvrqiyd kfpekkgglr elydrgppha fflvkfwadl
      121 nwgpsgeeag aggsissggf ygvssqyesl ehmtltcssk vcsfgkqvve kveteraqle
      181 dgrfvyrllr spmceylvnf lhklrqlper ymmnsvlenf tilqvvtnrd tqelllctay
      241 vfevstserg aqhhiyrlvr d
//
LOCUS       XP_054200529             669 aa            linear   PRI 20-MAR-2023
DEFINITION  calpain-13 isoform X1 [Homo sapiens].
ACCESSION   XP_054200529
VERSION     XP_054200529.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344554.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..669
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..669
                     /product="calpain-13 isoform X1"
                     /calculated_mol_wt=76596
     CDS             1..669
                     /gene="CAPN13"
                     /coded_by="XM_054344554.1:264..2273"
                     /db_xref="GeneID:92291"
                     /db_xref="HGNC:HGNC:16663"
                     /db_xref="MIM:610228"
ORIGIN      
        1 mayyqepsve tsiikfkdqd fttlrdhcls mgrtfkdetf paadssigqk llqekrlsnv
       61 iwkrpqdlpg gpphfilddi srfdiqqgga adcwflaalg sltqnpqyrq kilmvqsfsh
      121 qyagifrfrf wqcgqwvevv iddrlpvqgd kclfvrprhq nqefwpclle kayakllgsy
      181 sdlhygfled alvdltggvi tnihlhsspv dlvkavktat kagslitcat psgptdtaqa
      241 menglvslha ytvtgaeqiq yrrgweeiis lwnpwgwget ewrgrwsdgs qeweetcdpr
      301 ksqlhkkred gefwmscqdf qqkfiamfic seipitldhg ntlhegwsqi mfrkqvilgn
      361 taggprndaq fnfsvqepme gtnvvvcvtv avtpsnlkae dakfpldfqv ilagsqrfre
      421 kfppvffssf rntvqssnnk frrnftmtyh lspgnyvvva qtrrksaefl lriflkmpds
      481 drhlsshfnl rmkgspsehg sqqsifnrya qqrldidatq lqgllnqell tgppgdmfsl
      541 decrslvalm elkvngrldq eefarlwkrl vhyqhvfqkv qtspgvllss dlwkaientd
      601 flrgifisre llhlvtlrys dsvgrvsfps lvcflmrlea maktfrnlsk dgkglyltem
      661 ewmslvmyn
//
LOCUS       XP_054179228            2058 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor coactivator 6 isoform X8 [Homo sapiens].
ACCESSION   XP_054179228
VERSION     XP_054179228.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323253.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2058
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2058
                     /product="nuclear receptor coactivator 6 isoform X8"
                     /calculated_mol_wt=218817
     CDS             1..2058
                     /gene="NCOA6"
                     /gene_synonym="AIB3; ASC2; NRC; PRIP; RAP250; TRBP"
                     /coded_by="XM_054323253.1:344..6520"
                     /db_xref="GeneID:23054"
                     /db_xref="HGNC:HGNC:15936"
                     /db_xref="MIM:605299"
ORIGIN      
        1 mvlddlpnle diytslcsst medsemdfds gledddtksd siledstifv afkgniddkd
       61 fkwkldailk nvpnllhmes sklkvqkvep wnsvrvtfni preaaerlri laqsnnqqlr
      121 dlgilsvqie gegainlala qnrsqdvrmn gpmgagnsvr meagfpmasg pgifflgiir
      181 mnnpatvmip pggnvsssmm apgpnpelqp rtprpasqsd amdpllsglh iqqqshpsgs
      241 lapphhpmqp vsvnrqmnpa nfpqlqqqqq qqqqqqqqqq qqqqqqqqqq lqarppqqhq
      301 qqqpqgirpq ftaptqvpvp pgwnqlpsga lqpppaqgsl gtmtanqgwk kaplpgpmqq
      361 qlqarpslat vqtpshpppp ypfgsqqasq ahtnfpqmsn pgqftapqmk slqggpsrvp
      421 tplqqphltn kspasspssf qqgspasspt vnqtqqqmgp rppqnnplpq gfqqpvsspg
      481 rnpmvqqgnv ppnfmvmqqq ppnqgpqslh pglgekseps nlavawpqit freqiaifsl
      541 acsksgqanp nfmqgqvpst tattpgnsga pqlqanqnvq haggqgagpp qnqmqvshgp
      601 pnmmqpslmg ihgnmnnqqa gtsgvpqvnl snmqgqpqqg ppsqlmgmhq qivpsqgqmv
      661 qqqgtlnpqn pmilsraqlm pqgqmmvnpp sqnlgpspqr mtppkqmlsq qgpqmmaphn
      721 qmmgpqgqvl lqqnpmieqi mtnqmqgnkq qfntqnqsnv mpgpaqimrg ptpnmqgnmv
      781 qftgqmsgqm lpqqgpvnns psqvmgiqgq vlrppgpsph maqqhgdpat tanndvslsq
      841 mmpdvsiqqt nmvpphvqam qgnsasgnhf sghgmsfnap fsgapngnqm scgqnpgfpv
      901 nkdvtltspl lvnllqsdis aghfgvnnkq nntnankpkk kkpprkkkns qqdlntpdtr
      961 pagleeadqp plpgeqginl dnsgpklpef snrppgypsq pveqrplqqm ppqlmqhvap
     1021 ppqppqqqpq pqlpqqqqpp ppsqpqsqqq qqqqqqmmmm lmmqqdpksv rlpvsqnvhp
     1081 prgplnpdsq rmpmqqsgsv pvmvslqgpa svppspdkqr mpmpvntplg snsrkmvyqe
     1141 spqnpssspl aemaslpeas gseapsvpgg pnnmpshvvl pqnqlmmtgp kpgpsplsat
     1201 qgatpqqppv nslpsshghh fpnvaaptqt srpktpnras prpyypqtpn nrppstepse
     1261 islsperlna siaglfppqi niplpprpnl nrgfdqqgln pttlkaigqa psnltmnpsn
     1321 fatpqthkld svvvnsgkqs nsgatkrasp snsrrsspgs srkttpspgr qnskapkltl
     1381 asqtnaallq nvelprnvlv sptplanppv pgsfpnnsgl npqnstvsva avggvvednk
     1441 eslnvpqdsd cqnsqsrkeq vnielkavpa qevkmvvped qskkdgqpsd pnklpsveen
     1501 knlvspamre aptslsqlld nsgapnvtik ppgltdlevt ppvvsgedlk kasviptlqd
     1561 lssskepsns lnlphsnelc sslvhpelse vssnvapsip pvmsrpvsss sistplppnq
     1621 itvfvtsnpi ttsantsaal pthlqsalms tvvtmpnags kvmvsegqsa aqsnarpqfi
     1681 tpvfinsssi iqvmkgsqps tipaaplttn sglmppsvav vgplhipqni kfssapvppn
     1741 alssspapni qtgrplvlss ratpvqlpsp pctsspvvps hppvqqvkel npdeaspqvn
     1801 tsadqntlps sqsttmvspl ltnspgssgn rrspvssskg kgkvdkigqi lltkackkvt
     1861 gslekgeeqy gadgetegqg ldttapglmg teqlstelds ktptppaptl lkmtsspvgp
     1921 gtasagpslp ggalptsvrs ivttlvpsel isavpttksn hggiasesla gglveekvgs
     1981 hpellpsiap sqnlvskets ttalqasvar pelevnaaiv sgqrhnqcga iqakkiqvnk
     2041 qdcdlilgnv cdfykeqf
//
LOCUS       XP_054179293             384 aa            linear   PRI 20-MAR-2023
DEFINITION  protein AAR2 homolog isoform X1 [Homo sapiens].
ACCESSION   XP_054179293
VERSION     XP_054179293.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323318.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..384
                     /product="protein AAR2 homolog isoform X1"
                     /calculated_mol_wt=43341
     CDS             1..384
                     /gene="AAR2"
                     /gene_synonym="C20orf4; CGI-23"
                     /coded_by="XM_054323318.1:439..1593"
                     /db_xref="GeneID:25980"
                     /db_xref="HGNC:HGNC:15886"
                     /db_xref="MIM:617365"
ORIGIN      
        1 maavqmdpel akrlffegat vvilnmpkgt efgidynswe vgpkfrgvkm ippgihflhy
       61 ssvdkanpke vgprmgffls lhqrgltvlr wstlreevdl spapesevea mranlqeldq
      121 flgpypyatl kkwisltnfi seatveklqp enrqicafsd vlpvlsmkht kdrvgqnlpr
      181 cgiecksyqe glarlpemkp ragteirfse lptqmfpega tpaeitkhsm dlsyaletvl
      241 nkqfpsspqd vlgelqfafv cfllgnvyea fehwkrllnl lcrseaammk hhtlyinlis
      301 ilyhqlgeip adffvdivsq dnfltstlqv ffssacsiav datlrkkaek fqahltkkfr
      361 wdfaaepedc apvvvelpeg iemg
//
LOCUS       XP_054179376             301 aa            linear   PRI 20-MAR-2023
DEFINITION  visual system homeobox 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054179376
VERSION     XP_054179376.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323401.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..301
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..301
                     /product="visual system homeobox 1 isoform X3"
                     /calculated_mol_wt=31923
     CDS             1..301
                     /gene="VSX1"
                     /gene_synonym="CAASDS; KTCN; KTCN1; PPCD; PPCD1; PPD;
                     RINX"
                     /coded_by="XM_054323401.1:46..951"
                     /db_xref="GeneID:30813"
                     /db_xref="HGNC:HGNC:12723"
                     /db_xref="MIM:605020"
ORIGIN      
        1 mtgrdslsdg rtssralvpg gsprgsrprg faitdllgle aelpapagpg qgsgcegpav
       61 apcpgpgldg sslargalpl glgllcgfgt qppaaarapc llladvpflp prgpepaapl
      121 apsrpppalg rqkrsdsvst sdedsqsedr ndlkasptlg krkkrrhrtv ftahqleele
      181 kafseahypd vyaremlavk telpedriqv wfqnrrakwr krekrwggss vmaeyglyga
      241 mvrhciplpd svlnsaeggl lgscapwllv qtsapggsrs ldfagdtqap qtpwwclmtf
      301 s
//
LOCUS       XP_054179533             558 aa            linear   PRI 20-MAR-2023
DEFINITION  uridine-cytidine kinase-like 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054179533
VERSION     XP_054179533.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323558.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..558
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..558
                     /product="uridine-cytidine kinase-like 1 isoform X2"
                     /calculated_mol_wt=61236
     CDS             1..558
                     /gene="UCKL1"
                     /gene_synonym="UCK1L; URKL1"
                     /coded_by="XM_054323558.1:45..1721"
                     /db_xref="GeneID:54963"
                     /db_xref="HGNC:HGNC:15938"
                     /db_xref="MIM:610866"
ORIGIN      
        1 maapparada dpsptsppta rdtpgrqaek setacedrsn aesldrllpp vgtgrsprkr
       61 ttsqcksepp llrtskrtiy tagrppwyne hgtqskeafa iglgggsasg kttvarmiie
      121 aldvpwvvll smdsfykllh slphqvlteq qqeqaahnnf nfdhpdafdf dliistlkkl
      181 kqgksvkvpi ydftthsrkk dwktlyganv iifegimafa dktllelldm kifvdtdsdi
      241 rlvrrlrrdi sergrdiegv ikqynkfvkp sfdqyiqptm rladivvprg sgntvaidli
      301 vqhvhsqlee relsvsrgsy vgiceqcapw cccvtrlpva pcpaaparps flllprpfpc
      361 rchasflpch tpfpapplsl plsrlfsalp hpipgpapfp aavtplfcpa tphsrprpfp
      421 crchasflpc htpfpappls lplsrlfsal phpipgpapf paavtplfcp atphsrprpf
      481 pcrchasflp chtqfralpl sfpchtqfcg lslssscpci tpfpapphsl plscpfpalp
      541 ppcptsflpp prpfpars
//
LOCUS       XP_054180413            1115 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 25 isoform X9 [Homo sapiens].
ACCESSION   XP_054180413
VERSION     XP_054180413.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324438.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1115
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1115
                     /product="ubiquitin carboxyl-terminal hydrolase 25 isoform
                     X9"
                     /calculated_mol_wt=128273
     CDS             1..1115
                     /gene="USP25"
                     /gene_synonym="USP21"
                     /coded_by="XM_054324438.1:73..3420"
                     /db_xref="GeneID:29761"
                     /db_xref="HGNC:HGNC:12624"
                     /db_xref="MIM:604736"
ORIGIN      
        1 mimtdsifes ggafetasll llsltattgi gdsngnlela vafltaknak tpqqeettyy
       61 qtalpgndry isvgsqadtn vidltgddkd dlqraialsl aesnrafret gitdeeqais
      121 rvleasiaen kaclkrtpte vwrdsrnpyd rkrqdkapvg lknvgntcwf saviqslfnl
      181 lefrrlvlny kppsnaqdlp rnqkehrnlp fmrelrylfa llvgtkrkyv dpsraveilk
      241 dafksndsqq qdvsefthkl ldwledafqm kaeeetdeek pknpmvelfy grflavgvle
      301 gkkfentemf gqyplqvngf kdlhecleaa miegeieslh sensgksgqe hwftelppvl
      361 tfelsrfefn qalgrpekih nklefpqvly ldrymhrnre itrikreeik rlkdyltvlq
      421 qrlerylsyg sgpkrfplvd vlqyalefas skpvctspvd didassppsg sipsqtlpst
      481 teqqgalsse lpstspssva aissrsvihk pftqsrippd lpmhpaprhi teeelsvles
      541 clhrwrteie ndtrdlqesi srihrtielm ysdksmiqvp yrlhavlvhe gqanaghywa
      601 yifdhresrw mkyndiavtk ssweelvrds fggyrnasay clmyindkaq fliqeefnke
      661 tgqplvgiet lppdlrdfve ednqrfekel eewdaqlaqk alqekllasq klresetsvt
      721 taqaagdpey leqpsrsdfs khlkeetiqi itkashehed kspetvlqsk penttsqpls
      781 nqrvvevaip hvgkfmiesk eggyddeimm tpnmqgiima igksrsvydr cgpeagffka
      841 ikleyarlvk laqedtppet dyrlhhvvvy fiqnqapkki iektlleqfg drnlsfderc
      901 hnimkvaqak lemikpeevn leeyeewhqd yrkfrettmy liiglenfqr esyidsllfl
      961 icayqnnkel lskglyrghd eelishyrre cllklneqaa elfesgedre vnngliimne
     1021 fivpflplll vdemeekdil avedmrnrwc sylgqemeph lqekltdflp klldcsmeik
     1081 sfheppklps ysthelcerf arimlslsrt padgr
//
LOCUS       XP_054205324            1018 aa            linear   PRI 20-MAR-2023
DEFINITION  palladin isoform X10 [Homo sapiens].
ACCESSION   XP_054205324
VERSION     XP_054205324.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349349.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1018
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1018
                     /product="palladin isoform X10"
                     /calculated_mol_wt=110148
     CDS             1..1018
                     /gene="PALLD"
                     /gene_synonym="CGI-151; CGI151; MYN; PNCA1; SIH002"
                     /coded_by="XM_054349349.1:675..3731"
                     /db_xref="GeneID:23022"
                     /db_xref="HGNC:HGNC:17068"
                     /db_xref="MIM:608092"
ORIGIN      
        1 mpqaqkktts vsltigsssp ktgvttaviq plsvpvqqvh sptsylcrpd gtttayfppv
       61 ftkelqntav aegqvvvlec rvrgapplqv qwfrqgseiq dspdfrilqk kprstaepee
      121 ictlviaetf pedagiftcs arndygsats taqlvvtsan tencsyesmg esnndhfqhf
      181 pppppilets slelaskkps eiqqvnnpel glsraalqmq fnaaeretng vhpsrgvngl
      241 ingkansnks lptpavllsp tkepppllak pkldplklqq lqnqirleqe agarqpppap
      301 rsappsppfp pppafpelaa ctppaspepm salasrsapa mqssgsfnya rpkqfiaaqn
      361 lgpasghgtp asspsssslp spmsptprqf grapvppfaq pfgaepeapw gssspspppp
      421 pppvfsptaa fpvpdvfplp ppppplpspg qashcsspat rfghsqtpaa flsallpsqp
      481 ppaavnalgl pkgvtpagfp kkasrtaria sdeeiqgtkd aviqdlerkl rfkedllnng
      541 qprltyeerm arrllgadsa tvfniqepee etanqdigsp hasvgspldg qkeykvssce
      601 qrliseieyr lerspvdesg devqygdvpv engmapffem klkhykifeg mpvtftcrva
      661 gnpkpkiywf kdgkqispks dhytiqrdld gtcslhttas tldddgnyti maanpqgris
      721 ctgrlmvqav nqrgrsprsp sghphvrrpr srsrdsgden epiqerffrp hflqapgdlt
      781 vqegklcrmd ckvsglptpd lswqldgkpv rpdsahkmlv rengvhslii epvtsrdagi
      841 ytciatnrag qnsfslelvv aakeahkppv fieklqntgv adgypvrlec rvlgvpppqi
      901 fwkkeneslt hstdrvsmhq dnhgyiclli qgatkedagw ytvsakneag ivsctarldv
      961 ytqwhqqsqs tkpkkvrpsa sryaalsdqg ldikaafqpe anpshltlnt alvesedl
//
LOCUS       XP_054205927             190 aa            linear   PRI 20-MAR-2023
DEFINITION  immunoglobulin J chain isoform X1 [Homo sapiens].
ACCESSION   XP_054205927
VERSION     XP_054205927.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349952.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..190
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..190
                     /product="immunoglobulin J chain isoform X1"
                     /calculated_mol_wt=21853
     CDS             1..190
                     /gene="JCHAIN"
                     /gene_synonym="IGCJ; IGJ; JCH"
                     /coded_by="XM_054349952.1:75..647"
                     /db_xref="GeneID:3512"
                     /db_xref="HGNC:HGNC:5713"
                     /db_xref="MIM:147790"
ORIGIN      
        1 mqnkndcikl wflfgcfark ylnffrrsev kmknhllfwg vlavfikavh vkaqederiv
       61 lvdnkckcar itsriirsse dpnedivern iriivplnnr enisdptspl rtrfvyhlsd
      121 lckkcdptev eldnqivtat qsnicdedsa tetcytydrn kcytavvplv yggetkmvet
      181 altpdacypd
//
LOCUS       XP_054212416             368 aa            linear   PRI 20-MAR-2023
DEFINITION  palmitoyltransferase ZDHHC14 isoform X5 [Homo sapiens].
ACCESSION   XP_054212416
VERSION     XP_054212416.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356441.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..368
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..368
                     /product="palmitoyltransferase ZDHHC14 isoform X5"
                     /calculated_mol_wt=39875
     CDS             1..368
                     /gene="ZDHHC14"
                     /gene_synonym="NEW1CP"
                     /coded_by="XM_054356441.1:2318..3424"
                     /db_xref="GeneID:79683"
                     /db_xref="HGNC:HGNC:20341"
                     /db_xref="MIM:619295"
ORIGIN      
        1 mgtllrtsfs dpgvlpratp deaadlerqi diangtssgg yrppprtkev iingqtvklk
       61 ycftckifrp prashcslcd ncverfdhhc pwvgncvgkr nyrffymfil slsfltvfif
      121 afvithvilr sqqtgflnal kdspasvlea vvcffsvwsi vglsgfhtyl issnqttned
      181 ikgswsnkrg kenynpysyg niftnccval cgpispslid rrgyiqpdtp qpaapsngit
      241 mygatqsqsd maaatpllqs epsltsdelh lpgkpglgtp casltlgppt ppasmpnlae
      301 atladvmprk dehmghqflt pdeapspprl laagsplahs rtmhvlglas qdslhedsvr
      361 glvklssv
//
LOCUS       XP_054216008             919 aa            linear   PRI 20-MAR-2023
DEFINITION  exostosin-like 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054216008
VERSION     XP_054216008.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360033.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..919
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..919
                     /product="exostosin-like 3 isoform X1"
                     /calculated_mol_wt=104619
     CDS             1..919
                     /gene="EXTL3"
                     /gene_synonym="BOTV; EXTL1L; EXTR1; ISDNA; REGR; RPR"
                     /coded_by="XM_054360033.1:755..3514"
                     /db_xref="GeneID:2137"
                     /db_xref="HGNC:HGNC:3518"
                     /db_xref="MIM:605744"
ORIGIN      
        1 mtgytmlrng gagnggqtcm lrwsnrirlt wlsftlfvil vffpliahyy lttldeadea
       61 gkrifgprvg nelcevkhvl dlcriresvs eellqleakr qelnseiakl nlkieackks
      121 ienakqdllq lknvisqteh sykelmaqnq pklslpirll pekddaglpp pkatrgcrlh
      181 ncfdysrcpl tsgfpvyvyd sdqfvfgsyl dplvkqafqa taranvyvte nadiaclyvi
      241 lvgemqepvv lrpaelekql yslphwrtdg hnhviinlsr ksdtqnllyn vstgramvaq
      301 stfytvqyrp gfdlvvsplv hamsepnfme ippqvpvkrk ylftfqgeki eslrsslqea
      361 rsfeeemegd ppadyddrii atlkavqdsk ldqvlveftc knqpkpslpt ewalcgered
      421 rlellklstf aliitpgdpr lvissgcatr lfealevgav pvvlgeqvql pyqdmlqwne
      481 aalvvpkprv tevhfllrsl sdsdllamrr qgrflwetyf stadsifntv lamirtriqi
      541 paapireeaa aeiphrsgka agtdpnmadn gdldlgpvet eppyaspryl rnftltvtdf
      601 yrswncapgp fhlfphtpfd pvlpseakfl gsgtgfrpig ggaggsgkef qaalggnvpr
      661 eqftvvmlty ereevlmnsl erlnglpyln kvvvvwnspk lpsedllwpd igvpimvvrt
      721 eknslnnrfl pwneieteai lsidddahlr hdeimfgfrv wreardrivg fpgryhawdi
      781 phqswlynsn yscelsmvlt gaaffhkyya ylysyvmpqa irdmvdeyin cediamnflv
      841 shitrkppik vtsrwtfrcp gcpqalshdd shfherhkci nffvkvygym pllytqfrvd
      901 svlfktrlph dktkcfkfi
//
LOCUS       XP_054219102             841 aa            linear   PRI 20-MAR-2023
DEFINITION  band 4.1-like protein 4B isoform X5 [Homo sapiens].
ACCESSION   XP_054219102
VERSION     XP_054219102.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363127.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..841
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..841
                     /product="band 4.1-like protein 4B isoform X5"
                     /calculated_mol_wt=93121
     CDS             1..841
                     /gene="EPB41L4B"
                     /gene_synonym="CG1; EHM2; LULU2"
                     /coded_by="XM_054363127.1:614..3139"
                     /db_xref="GeneID:54566"
                     /db_xref="HGNC:HGNC:19818"
                     /db_xref="MIM:610340"
ORIGIN      
        1 mlrflrrtfg rrsmqryarg aagrgaaglg derdggprgg paaaasssal paapggsvfp
       61 agggplltgg aavhisaaga akatlycrvf lldgtevsvd lpkhakgqdl fdqivyhldl
      121 vetdyfglqf ldsaqvahwl dhakpikkqm kigpayalhf rvkyyssepn nlreeftryl
      181 fvlqlrhdil sgklkcpyet avelaalclq aelgecelpe htpelvsefr fipnqteame
      241 fdifqrwkec rgkspaqael sylnkakwle mygvdmhvvr grdgceyslg ltptgilife
      301 gankiglffw pkitkmdfkk skltlvvved ddqgreqeht fvfrldsart ckhlwkcave
      361 hhaffrlrtp gnsksnrsdf irlgsrfrfs grteyqathg srlrrtstfe rkpskrypsr
      421 rhstfkasnp viaaqlcskt npevhnyqpq yhpnihpsqp rwhphspnvs yplpspvlss
      481 sdrlpfgiee nggtpfltaa sgrhhhqhqh qhqhqhhsny slsltlenke gplrspnsss
      541 ksltklspgt palfseaaah lkkleletvk aagpwpplhi ninkaeekkv sektlqtpll
      601 pspvadhvkc nilkaqlena srvniqggke espfvninkk sslqdasvrs pipirvetaq
      661 pavekpeikp prvrkltrqy sfnrsdeddl ppdlaeavgv ttstttnttt aatqvsvplp
      721 spkvqnvssp hksegkglls pgakspsdrg gaftlepgdl lmdfteatpl adfrdsklqc
      781 cpgptsplip aatlrpltet vstvqtiytt rkpvslaasa etlrqelere kmmkrllmte
      841 l
//
LOCUS       XP_054220378            2142 aa            linear   PRI 20-MAR-2023
DEFINITION  protein transport protein Sec16A isoform X19 [Homo sapiens].
ACCESSION   XP_054220378
VERSION     XP_054220378.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364403.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2142
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2142
                     /product="protein transport protein Sec16A isoform X19"
                     /calculated_mol_wt=229306
     CDS             1..2142
                     /gene="SEC16A"
                     /gene_synonym="KIAA0310; p250; SEC16L"
                     /coded_by="XM_054364403.1:198..6626"
                     /db_xref="GeneID:9919"
                     /db_xref="HGNC:HGNC:29006"
                     /db_xref="MIM:612854"
ORIGIN      
        1 mqpppqtvps gmagpppagn prsvfwassp yrrrannnaa vapttcplqp vtdpfafsrq
       61 alqstplgss skssppvlqg papagfsqhp gllvphthar dssqgpcepl pgpltqprah
      121 aspfsgaltp sappgpemnr saevgpssep evqtlpylph yipgvdpets hgghphgnmp
      181 gldrplsrqn phdgvvtpaa spslpqpglq mpgqwgpvqg gpqpsgqhrs pcpegpvpsg
      241 vpcatsvphf ptpsilhqgp gheqhsplva ppaalpsdgr devshlqsgs hlannsdpes
      301 tfrqnprivn hwaspelrqn pgvknehrpa salvnplarg dspenrthhp lgagagsgca
      361 pleadsgasg alamffqgge teneenlsse kaglsgqadf ddfcsspglg rppapthvga
      421 gslcqallpg psneaagdvw gdtastgvpd asgsqyenve nlefvqnqev lpseplnldp
      481 sspsdqfryg plpgpavprh gavchtgapd atlhtvhpds vsssyssrsh grlsgsarpq
      541 elvgtfiqqe vgkpedeasg sffkqidssp vggetdettv sqnyrgsvsq pstpsppkpt
      601 gifqtsanss fepvkshlvg vkpfeadran vvgevretcv rqkqcrpaaa lpdaspgnle
      661 qppdnmetlc apqvcplpln stteavhmlp hagappldtv ypapekrpsa rtqgpvkces
      721 pattlwaqse lpdfggnvll apaapalyvc akpqppvvqp peeamsgqqs rnpssaapvq
      781 srggigasen lenppkmgee ealqsqvtkd aqgqpglera qqelvppqqq asppqlpkam
      841 fselsnpesl paqgqaqnsa qspaslvlvd agqqlpprpp qsssvslvss gsgqaavpse
      901 qpwpqpvpal apgpppqdla ayyyyrplyd ayqpqyslpy ppepgaasly yqdvyslyep
      961 ryrpydgaas ayaqnyrype perpssrash sserppprqg ypegyyssks gwssqsdyya
     1021 syyssqydyg dpghwdryhy sarvrdprty drrywcdaey dayrrehsaf gdrpekrdnn
     1081 wrydprftgs fdddpdphrd pygeevdrrs vhsehsarsl hsahslasrr sslsshshqs
     1141 qiyrshnvaa gsyeaplppg sfhgdfaygt yrsnfssgpg fpeygypadt vwpameqvss
     1201 rptspekfsv phvcarfgpg gqlikvipnl psegqpalve vhsmeallqh tseqeemraf
     1261 pgplakddth kvdvinfaqn kamkclqnen lidkesasll wnfivllcrq ngtvvgtdia
     1321 elllrdhrtv wlpgkspnea nlidftneav eqveeeesge aqlsfltggp aaaasslere
     1381 terfrellly grkkdalesa mknglwghal llaskmdsrt harvmtrfan slpindplqt
     1441 vyqlmsgrmp aastccgdek wgdwrphlam vlsnlnnnmd vesrtmatmg dtlasrglld
     1501 aahfcylmaq agfgvytkkt tklvligsnh slpflkfatn eaiqrteaye yaqslgaetc
     1561 plpsfqvfkf iyscrlaemg latqafhyce aiaksiltqp hlyspvlisq lvqmasqlrl
     1621 fdpqlkekpe eeslaaptwl vhlqqverqi kegagvwhqd galpqqcpgt pssemeqldr
     1681 pglsqpgalg ianpllavpa pspehsspsv rllpsapqtl pdgplaspar vpmfpvplpp
     1741 gplepgpgcv tpgpalgfle psgpglppgv pplqerrhll qearspdpgi vpqeapvgns
     1801 lselseenfd gkfanltpsr tvpdseappg wdradsgptq pplslspape tkrpgqaakk
     1861 etkepkkges wffrwlpgkk kteaylpddk nksivwdekk nqwvnlnepe eekkappppp
     1921 tsmpktvqaa ppalpgppga pvnmysrraa gtraryvdvl npsgtqrsep alapadfvap
     1981 laplpipsnl fvptpvssvr pqgrsgrndg llalsspdae epqlpdgtgr egpaaargla
     2041 npepapepkv lssaaslpgs elpssrpegs qggelsrcss msslsrevsq hfnqapgdlp
     2101 aaggppsgam pfynpaqlaq acatsgssrl grigqrkhlv ln
//
LOCUS       XP_054182588             366 aa            linear   PRI 20-MAR-2023
DEFINITION  disks large homolog 3 isoform X8 [Homo sapiens].
ACCESSION   XP_054182588
VERSION     XP_054182588.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326613.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..366
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..366
                     /product="disks large homolog 3 isoform X8"
                     /calculated_mol_wt=41981
     CDS             1..366
                     /gene="DLG3"
                     /gene_synonym="MRX; MRX90; NEDLG; PPP1R82; SAP102; XLID90;
                     XLMR"
                     /coded_by="XM_054326613.1:333..1433"
                     /db_xref="GeneID:1741"
                     /db_xref="HGNC:HGNC:2902"
                     /db_xref="MIM:300189"
ORIGIN      
        1 mmnssmssgs gslrtsekrs lyvralfdyd rtrdsclpsq glsfsygdil hvinasddew
       61 wqarlvtphg eseqigvips kkrvekkera rlktvkfhar tgmiesnrsi ktkrkksfrl
      121 srkfpfyksk enmaqessiq eqgvtsntsd sessskgqed ailsyepvtr qeihyarpvi
      181 ilgpmkdrvn ddlisefphk fgscvphttr prrdnevdgq dyhfvvsreq mekdiqdnkf
      241 ieagqfndnl ygtsiqsvra vaergkhcil dvsgnaikrl qqaqlypiai fikpksieal
      301 memnrrqtye qankiydkam kleqefgeyf taivqgdsle eiynkikqii edqsghyiwv
      361 pspekl
//
LOCUS       XP_054182974             632 aa            linear   PRI 20-MAR-2023
DEFINITION  DDB1- and CUL4-associated factor 8-like protein 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054182974
VERSION     XP_054182974.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326999.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..632
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..632
                     /product="DDB1- and CUL4-associated factor 8-like protein
                     2 isoform X1"
                     /calculated_mol_wt=71189
     CDS             1..632
                     /gene="DCAF8L2"
                     /gene_synonym="WDR42C"
                     /coded_by="XM_054326999.1:852..2750"
                     /db_xref="GeneID:347442"
                     /db_xref="HGNC:HGNC:31811"
ORIGIN      
        1 mshqegstdg lpdlgteslf sspeeqsgav aateassdid iatselsvtv tgdgsdsrdg
       61 gfpndasten rssdqesase dielesledf ehflmsgesl fhyplvgeee tereeedeei
      121 qeeggeeeee eeeeeeeeee eeeeeeeeqp ragpqgsggn heqysleedq aleewvsset
      181 salprprwqv vtalhqrqlg srprfvyeac garafvqrfr lqyrladhvg cvntvhfnqr
      241 gtrlassgdd lkvivwdwvr qrpvlnfesg htnnvfqakf lpncgdstla mcardgqvrv
      301 aelinasyfn ntkcvaqhrg pahklalepd spykfltsge davvftidlr qdrpaskvvv
      361 trendkkvgl ytitvnpant yqfavggqdq fvriydqrki dkkenngvlk kftphhlvnc
      421 dfptnitcvv yshdgtella syndddiylf nsshsdgaqy skrfkghrnn ttvkgvnfyg
      481 prsefvvsgs dcghiffwek sscqiiqflk gsregtincl ephpylpvla csgldhdvki
      541 wtptakaate ltglkkvikk nkwerdedsl hhgslfdqym lwfllrhvtq rgrhqdwrsg
      601 eaefpdeesd essstsetse eevqdrvqcm ps
//
LOCUS       NP_001295207             284 aa            linear   PRI 18-DEC-2022
DEFINITION  urea transporter 1 isoform 3 [Homo sapiens].
ACCESSION   NP_001295207
VERSION     NP_001295207.1
DBSOURCE    REFSEQ: accession NM_001308278.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 284)
  AUTHORS   Ye B, Ding K, Li K and Zhu Q.
  TITLE     Study on the role of SLC14A1 gene in biochemical recurrence of
            prostate cancer
  JOURNAL   Sci Rep 12 (1), 17064 (2022)
   PUBMED   36257969
  REMARK    GeneRIF: Study on the role of SLC14A1 gene in biochemical
            recurrence of prostate cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 284)
  AUTHORS   Zwiech R, Bruzda-Zwiech A, Balcerczak E, Szczepanska J, Krygier A,
            Malachowska B, Michalek D and Szmajda-Krygier D.
  TITLE     A potential link between AQP3 and SLC14A1 gene expression level and
            clinical parameters of maintenance hemodialysis patients
  JOURNAL   BMC Nephrol 23 (1), 297 (2022)
   PUBMED   36038817
  REMARK    GeneRIF: A potential link between AQP3 and SLC14A1 gene expression
            level and clinical parameters of maintenance hemodialysis patients.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 284)
  AUTHORS   Dinardo CL, Oliveira TGM, Kelly S, Ashley-Koch A, Telen M, Schmidt
            LC, Castilho S, Melo K, Dezan MR, Wheeler MM, Johnsen JM, Nickerson
            DA, Jain D, Custer B, Pereira AC and Sabino EC.
  CONSRTM   NHLBI Recipient Epidemiology Donor Evaluation Study (REDS-III)
            International Component-Brazil, the Outcome Modifying Genes in SCD
            (OMG) study and the NHLBI Trans-Omics for Precision Medicine
            (TOPMed) Program Sickle Cell Disease Working Group
  TITLE     Diversity of variant alleles encoding Kidd, Duffy, and Kell
            antigens in individuals with sickle cell disease using whole genome
            sequencing data from the NHLBI TOPMed Program
  JOURNAL   Transfusion 61 (2), 603-616 (2021)
   PUBMED   33231305
  REMARK    GeneRIF: Diversity of variant alleles encoding Kidd, Duffy, and
            Kell antigens in individuals with sickle cell disease using whole
            genome sequencing data from the NHLBI TOPMed Program.
REFERENCE   4  (residues 1 to 284)
  AUTHORS   Chan TC, Wu WJ, Li WM, Shiao MS, Shiue YL and Li CF.
  TITLE     SLC14A1 prevents oncometabolite accumulation and recruits HDAC1 to
            transrepress oncometabolite genes in urothelial carcinoma
  JOURNAL   Theranostics 10 (25), 11775-11793 (2020)
   PUBMED   33052246
  REMARK    GeneRIF: SLC14A1 prevents oncometabolite accumulation and recruits
            HDAC1 to transrepress oncometabolite genes in urothelial carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 284)
  AUTHORS   Komrakova M, Blaschke M, Ponce ML, Kluver A, Kopp R, Hufner M,
            Schieker M, Miosge N and Siggelkow H.
  TITLE     Decreased Expression of the Human Urea Transporter SLC14A1 in Bone
            is Induced by Cytokines and Stimulates Adipogenesis of Mesenchymal
            Progenitor Cells
  JOURNAL   Exp Clin Endocrinol Diabetes 128 (9), 582-595 (2020)
   PUBMED   31958845
  REMARK    GeneRIF: Decreased Expression of the Human Urea Transporter SLC14A1
            in Bone is Induced by Cytokines and Stimulates Adipogenesis of
            Mesenchymal Progenitor Cells.
REFERENCE   6  (residues 1 to 284)
  AUTHORS   Olives B, Martial S, Mattei MG, Matassi G, Rousselet G, Ripoche P,
            Cartron JP and Bailly P.
  TITLE     Molecular characterization of a new urea transporter in the human
            kidney
  JOURNAL   FEBS Lett 386 (2-3), 156-160 (1996)
   PUBMED   8647271
REFERENCE   7  (residues 1 to 284)
  AUTHORS   Davey S and Beach D.
  TITLE     RACH2, a novel human gene that complements a fission yeast cell
            cycle checkpoint mutation
  JOURNAL   Mol Biol Cell 6 (10), 1411-1421 (1995)
   PUBMED   8573795
REFERENCE   8  (residues 1 to 284)
  AUTHORS   Olives B, Mattei MG, Huet M, Neau P, Martial S, Cartron JP and
            Bailly P.
  TITLE     Kidd blood group and urea transport function of human erythrocytes
            are carried by the same protein
  JOURNAL   J Biol Chem 270 (26), 15607-15610 (1995)
   PUBMED   7797558
REFERENCE   9  (residues 1 to 284)
  AUTHORS   Olives B, Neau P, Bailly P, Hediger MA, Rousselet G, Cartron JP and
            Ripoche P.
  TITLE     Cloning and functional expression of a urea transporter from human
            bone marrow cells
  JOURNAL   J Biol Chem 269 (50), 31649-31652 (1994)
   PUBMED   7989337
REFERENCE   10 (residues 1 to 284)
  AUTHORS   Geitvik GA, Hoyheim B, Gedde-Dahl T, Grzeschik KH, Lothe R, Tomter
            H and Olaisen B.
  TITLE     The Kidd (JK) blood group locus assigned to chromosome 18 by close
            linkage to a DNA-RFLP
  JOURNAL   Hum Genet 77 (3), 205-209 (1987)
   PUBMED   2890568
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA156178.1, AK294129.1 and
            AC023421.7.
            
            Summary: The protein encoded by this gene is a membrane transporter
            that mediates urea transport in erythrocytes. This gene forms the
            basis for the Kidd blood group system. [provided by RefSeq, Mar
            2009].
            
            Transcript Variant: This variant (5) differs in the 5' UTR and
            lacks an in-frame portion of the 5' coding sequence compared to
            variant 4. The resulting isoform (3) has a shorter N-terminus
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK294129.1, SRR14038195.725523.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144335, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..284
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.3"
     Protein         1..284
                     /product="urea transporter 1 isoform 3"
                     /note="Kidd blood group antigen; SLC14A1 JK; urea
                     transporter JK glycoprotein; urea transporter-B1; urea
                     transporter, erythrocyte; solute carrier family 14 (urea
                     transporter), member 1 (Kidd blood group); mutant KIDD
                     blood group antigen"
                     /calculated_mol_wt=30775
     Region          2..249
                     /region_name="UT"
                     /note="Urea transporter; pfam03253"
                     /db_xref="CDD:427219"
     CDS             1..284
                     /gene="SLC14A1"
                     /gene_synonym="HsT1341; HUT11; HUT11A; JK; Jk(a); Jk(b);
                     RACH1; RACH2; UT-B1; UT1; UTE"
                     /coded_by="NM_001308278.2:322..1176"
                     /note="isoform 3 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS82252.1"
                     /db_xref="GeneID:6563"
                     /db_xref="HGNC:HGNC:10918"
                     /db_xref="MIM:613868"
ORIGIN      
        1 malllsqdrs liasglygyn atlvgvlmav fsdkgdyfww lllpvcamsm tcpifssaln
       61 smlskwdlpv ftlpfnmals mylsatghyn pffpaklvip ittapnisws dlsalellks
      121 ipvgvgqiyg cdnpwtggif lgaillsspl mclhaaigsl lgiaaglsls apfediyfgl
      181 wgfnsslaci amggmfmalt wqthllalgc alftaylgvg manfmaevgl pactwpfcla
      241 tllflimttk nsniykmpls kvtypeenri fylqakkrmv espl
//
LOCUS       NP_056200                816 aa            linear   PRI 26-DEC-2022
DEFINITION  sorbin and SH3 domain-containing protein 1 isoform 2 [Homo
            sapiens].
ACCESSION   NP_056200
VERSION     NP_056200.2
DBSOURCE    REFSEQ: accession NM_015385.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 816)
  AUTHORS   Gong S, Huo S, Luo Y, Li Y, Ma Y, Huang X, Hu M, Liu W, Zhang R,
            Cai X, Zhou L, Chen L, Ren Q, Zhang S, Zhu Y, Zhang X, Chen J, Wu
            J, Zhou X, Lin X, Han X and Ji L.
  TITLE     A variation in SORBS1 is associated with type 2 diabetes and
            high-density lipoprotein cholesterol in Chinese population
  JOURNAL   Diabetes Metab Res Rev 38 (5), e3524 (2022)
   PUBMED   35107206
  REMARK    GeneRIF: A variation in SORBS1 is associated with type 2 diabetes
            and high-density lipoprotein cholesterol in Chinese population.
REFERENCE   2  (residues 1 to 816)
  AUTHORS   Wang C and Cheng B.
  TITLE     MicroRNA miR-3646 promotes malignancy of lung adenocarcinoma cells
            by suppressing sorbin and SH3 domain-containing protein 1 via the
            c-Jun NH2-terminal kinase signaling pathway
  JOURNAL   Bioengineered 13 (3), 4869-4884 (2022)
   PUBMED   35196185
  REMARK    GeneRIF: MicroRNA miR-3646 promotes malignancy of lung
            adenocarcinoma cells by suppressing sorbin and SH3
            domain-containing protein 1 via the c-Jun NH2-terminal kinase
            signaling pathway.
REFERENCE   3  (residues 1 to 816)
  AUTHORS   Lu Z and Gao Y.
  TITLE     Screening differentially expressed genes between endometriosis and
            ovarian cancer to find new biomarkers for endometriosis
  JOURNAL   Ann Med 53 (1), 1377-1389 (2021)
   PUBMED   34409913
  REMARK    GeneRIF: Screening differentially expressed genes between
            endometriosis and ovarian cancer to find new biomarkers for
            endometriosis.
REFERENCE   4  (residues 1 to 816)
  AUTHORS   Cho WC, Jang JE, Kim KH, Yoo BC and Ku JL.
  TITLE     SORBS1 serves a metastatic role via suppression of AHNAK in
            colorectal cancer cell lines
  JOURNAL   Int J Oncol 56 (5), 1140-1151 (2020)
   PUBMED   32319594
  REMARK    GeneRIF: SORBS1 serves a metastatic role via suppression of AHNAK
            in colorectal cancer cell lines.
REFERENCE   5  (residues 1 to 816)
  AUTHORS   Sugis E, Dauvillier J, Leontjeva A, Adler P, Hindie V, Moncion T,
            Collura V, Daudin R, Loe-Mie Y, Herault Y, Lambert JC, Hermjakob H,
            Pupko T, Rain JC, Xenarios I, Vilo J, Simonneau M and Peterson H.
  TITLE     HENA, heterogeneous network-based data set for Alzheimer's disease
  JOURNAL   Sci Data 6 (1), 151 (2019)
   PUBMED   31413325
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 816)
  AUTHORS   Baumann CA, Ribon V, Kanzaki M, Thurmond DC, Mora S, Shigematsu S,
            Bickel PE, Pessin JE and Saltiel AR.
  TITLE     CAP defines a second signalling pathway required for
            insulin-stimulated glucose transport
  JOURNAL   Nature 407 (6801), 202-207 (2000)
   PUBMED   11001060
REFERENCE   7  (residues 1 to 816)
  AUTHORS   Asakura T, Nakanishi H, Sakisaka T, Takahashi K, Mandai K,
            Nishimura M, Sasaki T and Takai Y.
  TITLE     Similar and differential behaviour between the nectin-afadin-ponsin
            and cadherin-catenin systems during the formation and disruption of
            the polarized junctional alignment in epithelial cells
  JOURNAL   Genes Cells 4 (10), 573-581 (1999)
   PUBMED   10583506
REFERENCE   8  (residues 1 to 816)
  AUTHORS   Mandai K, Nakanishi H, Satoh A, Takahashi K, Satoh K, Nishioka H,
            Mizoguchi A and Takai Y.
  TITLE     Ponsin/SH3P12: an l-afadin- and vinculin-binding protein localized
            at cell-cell and cell-matrix adherens junctions
  JOURNAL   J Cell Biol 144 (5), 1001-1017 (1999)
   PUBMED   10085297
REFERENCE   9  (residues 1 to 816)
  AUTHORS   Ribon V, Herrera R, Kay BK and Saltiel AR.
  TITLE     A role for CAP, a novel, multifunctional Src homology 3
            domain-containing protein in formation of actin stress fibers and
            focal adhesions
  JOURNAL   J Biol Chem 273 (7), 4073-4080 (1998)
   PUBMED   9461600
REFERENCE   10 (residues 1 to 816)
  AUTHORS   Ribon V, Printen JA, Hoffman NG, Kay BK and Saltiel AR.
  TITLE     A novel, multifuntional c-Cbl binding protein in insulin receptor
            signaling in 3T3-L1 adipocytes
  JOURNAL   Mol Cell Biol 18 (2), 872-879 (1998)
   PUBMED   9447983
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157890.11 and AL158165.15.
            On Jun 2, 2019 this sequence version replaced NP_056200.1.
            
            Summary: This gene encodes a CBL-associated protein which functions
            in the signaling and stimulation of insulin. Mutations in this gene
            may be associated with human disorders of insulin resistance.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.3693653.1,
                                           SRR14038191.3777641.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..816
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.1"
     Protein         1..816
                     /product="sorbin and SH3 domain-containing protein 1
                     isoform 2"
                     /note="ponsin; c-Cbl associated protein; Fas-ligand
                     associated factor 2; SH3 domain protein 5"
                     /calculated_mol_wt=90088
     Region          338..379
                     /region_name="Sorb"
                     /note="Sorbin homologous domain; cl02617"
                     /db_xref="CDD:445856"
     Region          578..632
                     /region_name="SH3_Sorbs1_1"
                     /note="First Src Homology 3 domain of Sorbin and SH3
                     domain containing 1 (Sorbs1), also called ponsin; cd11919"
                     /db_xref="CDD:212852"
     Site            order(584,586,589,593,611..612,625,627..628)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212852"
     Region          652..709
                     /region_name="SH3_Sorbs1_2"
                     /note="Second Src Homology 3 domain of Sorbin and SH3
                     domain containing 1 (Sorbs1), also called ponsin; cd11922"
                     /db_xref="CDD:212855"
     Site            order(658,660,663,667,685..686,701,703..704)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212855"
     Region          757..815
                     /region_name="SH3_Sorbs1_3"
                     /note="Third (or C-terminal) Src Homology 3 domain of
                     Sorbin and SH3 domain containing 1 (Sorbs1), also called
                     ponsin; cd11916"
                     /db_xref="CDD:212849"
     Site            order(764,766,769,773,791..792,807,809..810)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212849"
     CDS             1..816
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /coded_by="NM_015385.4:184..2634"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS7442.1"
                     /db_xref="GeneID:10580"
                     /db_xref="HGNC:HGNC:14565"
                     /db_xref="MIM:605264"
ORIGIN      
        1 mssecdggsk avmnglapgs ngqdkdmdlt kictgkgavt lrasssyret pssspaspqe
       61 trqheskpgl epepssadew rlsssadang naqpsslaak gyrsvhpnlp sdksqdatss
      121 saaqpevivv plylvntdrg qegtarpptp lgplgcvpti patasaaspl tfptlddfip
      181 phlqrwphhs qparasgsfa pisqtppsfs pppplvppap edlrrvsepd ltgavsstds
      241 spllnevsss ligtdsqafp svskpssayp sttivnptiv llqhnreqqk rlsslsdpvs
      301 errvgeqdsa ptqekptspg kaiekrakdd srrvvkstqd lsdvsmdevg iplrntersk
      361 dwyktmfkqi hklnrdddsd lysprysfse dtksplsvpr sksemsyidg ekvvkrsatl
      421 plparssslk ssserndwep pdkkvdtrky raepksiyey qpgkssvltn ekmssaispt
      481 peissetpgy iyssnfhavk resdgapgdl tslenerqiy ksvleggdip lqglsglkrp
      541 sssastkdse sprhfipady lesteefirr rhddkemrpa rakfdfkaqt lkelplqkgd
      601 ivyiykqidq nwyegehhgr vgifprtyie llppaekaqp kkltpvqvle ygeaiakfnf
      661 ngdtqvemsf rkgeritllr qvdenwyegr ipgtsrqgif pityvdvikr plvknpvdym
      721 dlpfssspsr sataspqqpq aqqrrvtpdr sqtsqdlfsy qalysyipqn ddelelrdgd
      781 ivdvmekcdd gwfvgtsrrt kqfgtfpgny vkplyl
//
LOCUS       NP_001303853             154 aa            linear   PRI 26-DEC-2022
DEFINITION  Golgi apparatus membrane protein TVP23 homolog B isoform d [Homo
            sapiens].
ACCESSION   NP_001303853
VERSION     NP_001303853.1
DBSOURCE    REFSEQ: accession NM_001316924.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 154)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 154)
  AUTHORS   Wang AL, Rao VR, Chen JJ, Lussier YA, Rehman J, Huang Y, Jager RD
            and Grassi MA.
  TITLE     Role of FAM18B in diabetic retinopathy
  JOURNAL   Mol Vis 20, 1146-1159 (2014)
   PUBMED   25221423
  REMARK    GeneRIF: The role of FAM18B in regulating retinal microvascular
            endothelial cell viability, migration, and endothelial tube
            formation was determined following RNAi-mediated knockdown of
            FAM18B.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB143840.1, AC107982.6 and DA551966.1.
            
            Transcript Variant: This variant (7) uses an exon in place of the
            last two exons compared to variant 1. The resulting isoform (d) is
            shorter at the C-terminus compared to isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA551966.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145122
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..154
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     Protein         1..154
                     /product="Golgi apparatus membrane protein TVP23 homolog B
                     isoform d"
                     /note="family with sequence similarity 18, member B;
                     protein FAM18B1; family with sequence similarity 18,
                     member B1; Golgi apparatus membrane protein TVP23 homolog
                     B"
                     /calculated_mol_wt=17753
     Region          1..21
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYZ1.2)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q9NYZ1.2)"
     Region          32..154
                     /region_name="DUF846"
                     /note="Eukaryotic protein of unknown function (DUF846);
                     pfam05832"
                     /db_xref="CDD:428643"
     Site            34..53
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYZ1.2)"
     Site            54..72
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYZ1.2)"
     Site            126..146
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYZ1.2)"
     CDS             1..154
                     /gene="TVP23B"
                     /gene_synonym="CGI-148; FAM18B; FAM18B1; NPD008; YDR084C"
                     /coded_by="NM_001316924.2:112..576"
                     /note="isoform d is encoded by transcript variant 7"
                     /db_xref="GeneID:51030"
                     /db_xref="HGNC:HGNC:20399"
ORIGIN      
        1 mlqqdsnddt edvslfdaee ettnrprkak irhpvasffh lffrvsaiiv yllcgllsss
       61 fitcmvtiil llscdfwavk nvtgrlmvgl rwwnhidedg kshwvfesrk essqenktvs
      121 eaesrifwlg liacpvlwvi fafsalfsfr vkwl
//
LOCUS       NP_001073866             748 aa            linear   PRI 28-DEC-2022
DEFINITION  proton-associated sugar transporter A isoform 2 [Homo sapiens].
ACCESSION   NP_001073866 XP_001129279 XP_005263524
VERSION     NP_001073866.3
DBSOURCE    REFSEQ: accession NM_001080397.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 748)
  AUTHORS   Srour M, Shimokawa N, Hamdan FF, Nassif C, Poulin C, Al Gazali L,
            Rosenfeld JA, Koibuchi N, Rouleau GA, Al Shamsi A and Michaud JL.
  TITLE     Dysfunction of the Cerebral Glucose Transporter SLC45A1 in
            Individuals with Intellectual Disability and Epilepsy
  JOURNAL   Am J Hum Genet 100 (5), 824-830 (2017)
   PUBMED   28434495
  REMARK    GeneRIF: Our data strongly suggest that recessive mutations in
            SLC45A1 cause intellectual disability and epilepsy. SLC45A1 thus
            represents the second cerebral glucose transporter, in addition to
            GLUT1, to be involved in neurodevelopmental disability.
REFERENCE   2  (residues 1 to 748)
  AUTHORS   Guan W, Steffen BT, Lemaitre RN, Wu JHY, Tanaka T, Manichaikul A,
            Foy M, Rich SS, Wang L, Nettleton JA, Tang W, Gu X, Bandinelli S,
            King IB, McKnight B, Psaty BM, Siscovick D, Djousse L, Chen YI,
            Ferrucci L, Fornage M, Mozafarrian D, Tsai MY and Steffen LM.
  TITLE     Genome-wide association study of plasma N6 polyunsaturated fatty
            acids within the cohorts for heart and aging research in genomic
            epidemiology consortium
  JOURNAL   Circ Cardiovasc Genet 7 (3), 321-331 (2014)
   PUBMED   24823311
REFERENCE   3  (residues 1 to 748)
  CONSRTM   Cross-Disorder Group of the Psychiatric Genomics Consortium
  TITLE     Identification of risk loci with shared effects on five major
            psychiatric disorders: a genome-wide analysis
  JOURNAL   Lancet 381 (9875), 1371-1379 (2013)
   PUBMED   23453885
  REMARK    Erratum:[Lancet. 2013 Apr 20;381(9875):1360]
REFERENCE   4  (residues 1 to 748)
  AUTHORS   Song C, Chen GK, Millikan RC, Ambrosone CB, John EM, Bernstein L,
            Zheng W, Hu JJ, Ziegler RG, Nyante S, Bandera EV, Ingles SA, Press
            MF, Deming SL, Rodriguez-Gil JL, Chanock SJ, Wan P, Sheng X, Pooler
            LC, Van Den Berg DJ, Le Marchand L, Kolonel LN, Henderson BE,
            Haiman CA and Stram DO.
  TITLE     A genome-wide scan for breast cancer risk haplotypes among African
            American women
  JOURNAL   PLoS One 8 (2), e57298 (2013)
   PUBMED   23468962
REFERENCE   5  (residues 1 to 748)
  AUTHORS   Choy KW, Wang CC, Ogura A, Lau TK, Rogers MS, Ikeo K, Gojobori T,
            Lam DS and Pang CP.
  TITLE     Genomic annotation of 15,809 ESTs identified from pooled early
            gestation human eyes
  JOURNAL   Physiol Genomics 25 (1), 9-15 (2006)
   PUBMED   16368877
REFERENCE   6  (residues 1 to 748)
  AUTHORS   Amler LC, Bauer A, Corvi R, Dihlmann S, Praml C, Cavenee WK, Schwab
            M and Hampton GM.
  TITLE     Identification and characterization of novel genes located at the
            t(1;15)(p36.2;q24) translocation breakpoint in the neuroblastoma
            cell line NGP
  JOURNAL   Genomics 64 (2), 195-202 (2000)
   PUBMED   10729226
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY013542.1, BU527858.1,
            AL356072.21, BY798065.2 and HY328991.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 19, 2019 this sequence version replaced NP_001073866.2.
            
            Summary: This gene was isolated initially from a region on
            chromosome 1p that is frequently deleted in human neuroblastoma,
            although no causal relationship has since been demonstrated. The
            encoded protein belongs to the glycoside-pentoside-hexuronide
            cation symporter transporter family and may play a role in glucose
            uptake. [provided by RefSeq, Mar 2014].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2243324.1,
                                           SRR11853559.202.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000471889.7/ ENSP00000418096.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..748
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.23"
     Protein         1..748
                     /product="proton-associated sugar transporter A isoform 2"
                     /note="proton-associated sugar transporter A; deleted in
                     neuroblastoma 5 protein; H+/sugar symporter"
                     /calculated_mol_wt=80712
     Region          87..722
                     /region_name="MFS_SLC45_SUC"
                     /note="Solute carrier family 45 and similar sugar
                     transporters of the Major Facilitator Superfamily of
                     transporters; cd17313"
                     /db_xref="CDD:340871"
     Site            order(97..98,101..102,105,137,207..208,210..212,215,235,
                     238..239,242,516,533..534,537..539,542,587,591,640..641,
                     645,649,677,680..681,684..685,688)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:340871"
     CDS             1..748
                     /gene="SLC45A1"
                     /gene_synonym="DNB5; IDDNPF; PAST-A"
                     /coded_by="NM_001080397.3:98..2344"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS30577.3"
                     /db_xref="GeneID:50651"
                     /db_xref="HGNC:HGNC:17939"
                     /db_xref="MIM:605763"
ORIGIN      
        1 mipaasstpp gdalfpsvap qdfwrsqvtg ysgsvtrhls hrannfkrhp krrkcirpsp
       61 ppppntpcpl elvdfgdlhp qrsfrellfn gcilfgiefs yametayvtp vllqmglpdq
      121 lyslvwfisp ilgfllqpll gawsdrctsr fgrrrpfilv laigallgls lllngrdigi
      181 aladvtgnhk wgllltvcgv vlmdfsadsa dnpshaymmd vcspadqdrg lnihallagl
      241 gggfgyvvgg ihwdktgfgr alggqlrviy lftavtlsvt tvltlvsipe rplrppsekr
      301 aamkspslpl ppsppvlpee gpgdslpsht atnfsspisp pspltpkygs fisrdssltg
      361 isefassfgt anidsvlidc ftgghdsyla ipgsvprppi svsfprapdg fyrqdrglle
      421 gregaltsgc dgdilrvgsl dtskprssgi lkrpqtlaip daaggggpet srrrnvtfsq
      481 qvanillngv kyeseltgss eraeqplsvg rlcsticnmp kalrtlcvnh flgwlsfegm
      541 llfytdfmge vvfqgdpkap htseayqkyn sgvtmgcwgm ciyafsaafy sailekleef
      601 lsvrtlyfia ylafglgtgl atlsrnlyvv lslcitygil fstlctlpys llcdyyqskk
      661 fagssadgtr rgmgvdisll scqyflaqil vslvlgplts avgsangvmy fsslvsflgc
      721 lysslfviye ippsdaadee hrplllnv
//
LOCUS       NP_001364301             160 aa            linear   PRI 30-DEC-2022
DEFINITION  NF-kappa-B inhibitor-interacting Ras-like protein 1 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001364301
VERSION     NP_001364301.1
DBSOURCE    REFSEQ: accession NM_001377372.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 160)
  AUTHORS   Braga EA, Loginov VI, Pronina IV, Khodyrev DS, Rykov SV, Burdennyy
            AM, Friedman MV, Kazubskaya TP, Kubatiev AA and Kushlinskii NE.
  TITLE     Upregulation of RHOA and NKIRAS1 genes in lung tumors is associated
            with loss of their methylation as well as with methylation of
            regulatory miRNA genes
  JOURNAL   Biochemistry (Mosc) 80 (4), 483-494 (2015)
   PUBMED   25869366
  REMARK    GeneRIF: It was demonstrated that elevated levels of mRNA for
            NKIRAS1 was significantly associated both with loss of methylation
            in NKIRAS1 CpG-islands and methylation in a number of miRNA genes.
REFERENCE   2  (residues 1 to 160)
  AUTHORS   Navarini AA, Simpson MA, Weale M, Knight J, Carlavan I, Reiniche P,
            Burden DA, Layton A, Bataille V, Allen M, Pleass R, Pink A, Creamer
            D, English J, Munn S, Walton S, Willis C, Deret S, Voegel JJ,
            Spector T, Smith CH, Trembath RC and Barker JN.
  CONSRTM   Acne Genetic Study Group
  TITLE     Genome-wide association study identifies three novel susceptibility
            loci for severe Acne vulgaris
  JOURNAL   Nat Commun 5, 4020 (2014)
   PUBMED   24927181
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 160)
  AUTHORS   Khodyrev,D.S., Pronina,I.V., Rykov,S.V., Beresneva,E.V.,
            Fridman,M.V., Kazubskaia,T.P., Loginov,V.I. and Braga,E.A.
  TITLE     [Methylation of some miRNA genes is involved in the regulation of
            their target genes RAR-beta2 and NKIRAS1 expression in lung cancer]
  JOURNAL   Mol Biol (Mosk) 46 (5), 773-785 (2012)
   PUBMED   23156677
  REMARK    GeneRIF: Significant correlation was found between alterations of
            methylation status of miR-34b/c, miR-193a and the expression level
            of NKIRAS1 target gene in the primary lung tumors.
REFERENCE   4  (residues 1 to 160)
  AUTHORS   Lin H, Wang Y, Zhang X, Liu B, Zhang W and Cheng J.
  TITLE     Prognostic significance of kappaB-Ras1 expression in gliomas
  JOURNAL   Med Oncol 29 (2), 1272-1279 (2012)
   PUBMED   21302000
  REMARK    GeneRIF: Low kappaB-Ras1 expression is associated with gliomas.
REFERENCE   5  (residues 1 to 160)
  AUTHORS   Gerashchenko GV, Bogatyrova OO, Rudenko EE, Kondratov AG, Gordiyuk
            VV, Zgonnyk YM, Vozianov OF, Pavlova TV, Zabarovsky ER, Rynditch AV
            and Kashuba VI.
  TITLE     Genetic and epigenetic changes of NKIRAS1 gene in human renal cell
            carcinomas
  JOURNAL   Exp Oncol 32 (2), 71-75 (2010)
   PUBMED   20693965
  REMARK    GeneRIF: It was shown the decreased expression level of NKIRAS1 in
            Renal cell carcinoma
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 160)
  AUTHORS   Dieguez-Gonzalez R, Akar S, Calaza M, Perez-Pampin E, Costas J,
            Torres M, Vicario JL, Velloso ML, Navarro F, Narvaez J, Joven B,
            Herrero-Beaumont G, Gonzalez-Alvaro I, Fernandez-Gutierrez B, de la
            Serna AR, Carreno L, Lopez-Longo J, Caliz R, Collado-Escobar MD,
            Blanco FJ, Fernandez-Lopez C, Balsa A, Pascual-Salcedo D,
            Gomez-Reino JJ and Gonzalez A.
  TITLE     Genetic variation in the nuclear factor kappaB pathway in relation
            to susceptibility to rheumatoid arthritis
  JOURNAL   Ann Rheum Dis 68 (4), 579-583 (2009)
   PUBMED   18434448
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 160)
  AUTHORS   Barrios-Rodiles M, Brown KR, Ozdamar B, Bose R, Liu Z, Donovan RS,
            Shinjo F, Liu Y, Dembowy J, Taylor IW, Luga V, Przulj N, Robinson
            M, Suzuki H, Hayashizaki Y, Jurisica I and Wrana JL.
  TITLE     High-throughput mapping of a dynamic signaling network in mammalian
            cells
  JOURNAL   Science 307 (5715), 1621-1625 (2005)
   PUBMED   15761153
REFERENCE   8  (residues 1 to 160)
  AUTHORS   Chen Y, Vallee S, Wu J, Vu D, Sondek J and Ghosh G.
  TITLE     Inhibition of NF-kappaB activity by IkappaBbeta in association with
            kappaB-Ras
  JOURNAL   Mol Cell Biol 24 (7), 3048-3056 (2004)
   PUBMED   15024091
REFERENCE   9  (residues 1 to 160)
  AUTHORS   Chen Y, Wu J and Ghosh G.
  TITLE     KappaB-Ras binds to the unique insert within the ankyrin repeat
            domain of IkappaBbeta and regulates cytoplasmic retention of
            IkappaBbeta x NF-kappaB complexes
  JOURNAL   J Biol Chem 278 (25), 23101-23106 (2003)
   PUBMED   12672800
REFERENCE   10 (residues 1 to 160)
  AUTHORS   Fenwick C, Na SY, Voll RE, Zhong H, Im SY, Lee JW and Ghosh S.
  TITLE     A subclass of Ras proteins that regulate the degradation of IkappaB
  JOURNAL   Science 287 (5454), 869-873 (2000)
   PUBMED   10657303
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC124914.3.
            
            ##Evidence-Data-START##
            CDS exon combination :: BQ223093.1, AA551591.1 [ECO:0000331]
            RNAseq introns       :: partial sample support SAMN03267781,
                                    SAMN03465403 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..160
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.2"
     Protein         1..160
                     /product="NF-kappa-B inhibitor-interacting Ras-like
                     protein 1 isoform 2"
                     /note="NFKB inhibitor interacting Ras-like protein 1;
                     I-kappa-B-interacting Ras-like protein 1; kappa B-ras 1;
                     NF-kappa-B inhibitor-interacting Ras-like protein 1; kappa
                     B-Ras protein 1"
                     /calculated_mol_wt=18227
     Region          6..136
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            6
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206648"
     Site            9..11
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206648"
     Site            29..32
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206648"
     Site            order(31..32,48..49)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206648"
     Site            88..91
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206648"
     Site            118..120
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206648"
     CDS             1..160
                     /gene="NKIRAS1"
                     /gene_synonym="kappaB-Ras1; KBRAS1"
                     /coded_by="NM_001377372.1:775..1257"
                     /note="isoform 2 is encoded by transcript variant 23"
                     /db_xref="GeneID:28512"
                     /db_xref="HGNC:HGNC:17899"
                     /db_xref="MIM:604496"
ORIGIN      
        1 medcetmedv ymasvetdrg vkeqlhlydt rglqegvelp khyfsfadgf vlvysvnnle
       61 sfqrvellkk eidkfkdkke vaivvlgnki dlseqrqvda evaqqwakse kvrlwevtvt
      121 drktliepft llasklsqpq skssfplpgr knkgnsnsen
//
LOCUS       NP_001380369             125 aa            linear   PRI 31-DEC-2022
DEFINITION  anaphase-promoting complex subunit 15 isoform a [Homo sapiens].
ACCESSION   NP_001380369
VERSION     NP_001380369.1
DBSOURCE    REFSEQ: accession NM_001393440.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 125)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 125)
  AUTHORS   Li Q, Chang L, Aibara S, Yang J, Zhang Z and Barford D.
  TITLE     WD40 domain of Apc1 is critical for the coactivator-induced
            allosteric transition that stimulates APC/C catalytic activity
  JOURNAL   Proc Natl Acad Sci U S A 113 (38), 10547-10552 (2016)
   PUBMED   27601667
  REMARK    GeneRIF: cryo-EM structure of an APC/C-Cdh1 complex with Apc1(WD40)
            deleted showed that the mutant APC/C is locked into an inactive
            conformation in which the UbcH10-binding site of the catalytic
            module is inaccessible. Additionally, an EM density for Apc15 is
            not visible
REFERENCE   3  (residues 1 to 125)
  AUTHORS   Zhang S, Chang L, Alfieri C, Zhang Z, Yang J, Maslen S, Skehel M
            and Barford D.
  TITLE     Molecular mechanism of APC/C activation by mitotic phosphorylation
  JOURNAL   Nature 533 (7602), 260-264 (2016)
   PUBMED   27120157
REFERENCE   4  (residues 1 to 125)
  AUTHORS   Uzunova K, Dye BT, Schutz H, Ladurner R, Petzold G, Toyoda Y,
            Jarvis MA, Brown NG, Poser I, Novatchkova M, Mechtler K, Hyman AA,
            Stark H, Schulman BA and Peters JM.
  TITLE     APC15 mediates CDC20 autoubiquitylation by APC/C(MCC) and
            disassembly of the mitotic checkpoint complex
  JOURNAL   Nat Struct Mol Biol 19 (11), 1116-1123 (2012)
   PUBMED   23007861
  REMARK    GeneRIF: APC15 is required for anaphase-promoting
            complex/cyclosome-bound mitotic checkpoint complex-dependent CDC20
            autoubiquitylation and degradation and for timely anaphase
            initiation.
REFERENCE   5  (residues 1 to 125)
  AUTHORS   Mansfeld J, Collin P, Collins MO, Choudhary JS and Pines J.
  TITLE     APC15 drives the turnover of MCC-CDC20 to make the spindle assembly
            checkpoint responsive to kinetochore attachment
  JOURNAL   Nat Cell Biol 13 (10), 1234-1243 (2011)
   PUBMED   21926987
  REMARK    GeneRIF: Anaphase promoting complex subunit 15(APC15) mediates the
            constant turnover of CDC20 and mitotic checkpoint protein
            complexes, allowing the spindle checkpoint assembly to respond to
            the attachment state of kinetochores.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 125)
  AUTHORS   Castro A, Bernis C, Vigneron S, Labbe JC and Lorca T.
  TITLE     The anaphase-promoting complex: a key factor in the regulation of
            cell cycle
  JOURNAL   Oncogene 24 (3), 314-325 (2005)
   PUBMED   15678131
  REMARK    Review article
REFERENCE   7  (residues 1 to 125)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000812.4.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR14478891.1281192.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..125
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..125
                     /product="anaphase-promoting complex subunit 15 isoform a"
                     /calculated_mol_wt=14585
     Region          2..>61
                     /region_name="ANAPC15"
                     /note="Anaphase-promoting complex subunit 15; pfam15243"
                     /db_xref="CDD:434565"
     CDS             1..125
                     /gene="ANAPC15"
                     /gene_synonym="APC15; C11orf51; HSPC020"
                     /coded_by="NM_001393440.1:121..498"
                     /note="isoform a is encoded by transcript variant 26"
                     /db_xref="CCDS:CCDS60880.1"
                     /db_xref="GeneID:25906"
                     /db_xref="HGNC:HGNC:24531"
                     /db_xref="MIM:614717"
ORIGIN      
        1 mstlfpslfp rvtetlwfnl drpcveetel qqqeqqhqaw lqsiaekdnn lvpigkpase
       61 hyddeeeedd eddedseeds eddedmqdmd emndynespd dgevnepplq vdmegneqdq
      121 dqwmi
//
LOCUS       NP_001397776            1176 aa            linear   PRI 01-JAN-2023
DEFINITION  homeodomain-interacting protein kinase 1 isoform 6 [Homo sapiens].
ACCESSION   NP_001397776 XP_047305097
VERSION     NP_001397776.1
DBSOURCE    REFSEQ: accession NM_001410847.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1176)
  AUTHORS   Gong J, Zhao S, Luo S, Yin S, Li X and Feng Y.
  TITLE     Downregulation of circ-ZNF644 alleviates LPS-induced HK2 cell
            injury via miR-335-5p/HIPK1 axis
  JOURNAL   Environ Toxicol 37 (12), 2855-2864 (2022)
   PUBMED   36052886
  REMARK    GeneRIF: Downregulation of circ-ZNF644 alleviates LPS-induced HK2
            cell injury via miR-335-5p/HIPK1 axis.
REFERENCE   2  (residues 1 to 1176)
  AUTHORS   Zhu Q, Li Y, Li L, Guo M, Zou C, Xu Y and Yang Z.
  TITLE     MicroRNA-889-3p restrains the proliferation and
            epithelial-mesenchymal transformation of lung cancer cells via
            down-regulation of Homeodomain-interacting protein kinase 1
  JOURNAL   Bioengineered 12 (2), 10945-10958 (2021)
   PUBMED   34723781
  REMARK    GeneRIF: MicroRNA-889-3p restrains the proliferation and
            epithelial-mesenchymal transformation of lung cancer cells via
            down-regulation of Homeodomain-interacting protein kinase 1.
REFERENCE   3  (residues 1 to 1176)
  AUTHORS   Kaltheuner IH, Anand K, Moecking J, Duster R, Wang J, Gray NS and
            Geyer M.
  TITLE     Abemaciclib is a potent inhibitor of DYRK1A and HIP kinases
            involved in transcriptional regulation
  JOURNAL   Nat Commun 12 (1), 6607 (2021)
   PUBMED   34785661
  REMARK    GeneRIF: Abemaciclib is a potent inhibitor of DYRK1A and HIP
            kinases involved in transcriptional regulation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1176)
  AUTHORS   Inwood S, Buehler E, Betenbaugh M, Lal M and Shiloach J.
  TITLE     Identifying HIPK1 as Target of miR-22-3p Enhancing Recombinant
            Protein Production From HEK 293 Cell by Using Microarray and HTP
            siRNA Screen
  JOURNAL   Biotechnol J 13 (2) (2018)
   PUBMED   28987030
  REMARK    GeneRIF: The data presented here con fi rmed that HIPK1 is involved
            in the increased expression of recombinant luciferase and the
            secreted recombinant GPC3-hFc from HEK 293 cells following
            transfection with miR-22-3p.
REFERENCE   5  (residues 1 to 1176)
  AUTHORS   Conte A and Pierantoni GM.
  TITLE     Update on the Regulation of HIPK1, HIPK2 and HIPK3 Protein Kinases
            by microRNAs
  JOURNAL   Microrna 7 (3), 178-186 (2018)
   PUBMED   29793420
  REMARK    GeneRIF: HIPK1, HIPK2 and HIPK3 interact with the components of the
            carbon catabolite repressor 4 (CCR4)-negative on TATA (NOT)
            complex, an important regulator of all the major steps in the mRNA
            metabolism. it has emerged that HIPKs and their related miRNAs are
            involved in diabetic nephropathy, gastric cancer chemoresistance,
            cervical cancer progression, and recombinant protein expression in
            cultured cells. [Review]
            Review article
REFERENCE   6  (residues 1 to 1176)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   7  (residues 1 to 1176)
  AUTHORS   Song JJ and Lee YJ.
  TITLE     Role of the ASK1-SEK1-JNK1-HIPK1 signal in Daxx trafficking and
            ASK1 oligomerization
  JOURNAL   J Biol Chem 278 (47), 47245-47252 (2003)
   PUBMED   12968034
REFERENCE   8  (residues 1 to 1176)
  AUTHORS   Kondo S, Lu Y, Debbas M, Lin AW, Sarosi I, Itie A, Wakeham A, Tuan
            J, Saris C, Elliott G, Ma W, Benchimol S, Lowe SW, Mak TW and
            Thukral SK.
  TITLE     Characterization of cells and gene-targeted mice deficient for the
            p53-binding kinase homeodomain-interacting protein kinase 1 (HIPK1)
  JOURNAL   Proc Natl Acad Sci U S A 100 (9), 5431-5436 (2003)
   PUBMED   12702766
REFERENCE   9  (residues 1 to 1176)
  AUTHORS   Ecsedy JA, Michaelson JS and Leder P.
  TITLE     Homeodomain-interacting protein kinase 1 modulates Daxx
            localization, phosphorylation, and transcriptional activity
  JOURNAL   Mol Cell Biol 23 (3), 950-960 (2003)
   PUBMED   12529400
REFERENCE   10 (residues 1 to 1176)
  AUTHORS   Kim YH, Choi CY, Lee SJ, Conti MA and Kim Y.
  TITLE     Homeodomain-interacting protein kinases, a novel family of
            co-repressors for homeodomain transcription factors
  JOURNAL   J Biol Chem 273 (40), 25875-25879 (1998)
   PUBMED   9748262
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL137856.24 and AL731797.9.
            On Aug 16, 2022 this sequence version replaced XP_047305097.1.
            
            Summary: The protein encoded by this gene belongs to the Ser/Thr
            family of protein kinases and HIPK subfamily. It phosphorylates
            homeodomain transcription factors and may also function as a
            co-repressor for homeodomain transcription factors. Alternative
            splicing results in four transcript variants encoding four distinct
            isoforms. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1332064.1,
                                           SRR14038196.2131646.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1176
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     Protein         1..1176
                     /product="homeodomain-interacting protein kinase 1 isoform
                     6"
                     /EC_number="2.7.11.1"
                     /note="homeodomain interacting protein kinase 1-like
                     protein; nuclear body associated kinase 2b; nuclear
                     body-associated kinase 2"
                     /calculated_mol_wt=126985
     Region          174..528
                     /region_name="STKc_HIPK1"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Homeodomain-Interacting Protein Kinase 1; cd14228"
                     /db_xref="CDD:271130"
     Site            order(196..200,204,217,219,233,252,268..271,274,276..277,
                     315,317,319..320,322,337,340,350,352..355,357,394)
                     /site_type="active"
                     /db_xref="CDD:271130"
     Site            order(196..200,204,217,219,252,268..271,274,315,317,
                     319..320,322,337)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271130"
     Site            order(233,276,315,317,340,350,352..355,357,394)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271130"
     Site            336..357
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271130"
     Region          1016..>1174
                     /region_name="PHA03269"
                     /note="envelope glycoprotein C; Provisional"
                     /db_xref="CDD:165527"
     CDS             1..1176
                     /gene="HIPK1"
                     /gene_synonym="Myak; Nbak2"
                     /coded_by="NM_001410847.1:99..3629"
                     /note="isoform 6 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS91025.1"
                     /db_xref="GeneID:204851"
                     /db_xref="HGNC:HGNC:19006"
                     /db_xref="MIM:608003"
ORIGIN      
        1 masqlqvfsp psvsssafcs akklkiepsg wdvsgqssnd kyythsktlp atqgqanssh
       61 qvanfnipay dqglllpapa vehivvtaad ssgsaatstf qssqtlthrs nvsllepyqk
      121 cglkrkseev dsngsvqiie ehpplmlqnr tvvgaaattt tvttksssss gegdyqlvqh
      181 eilcsmtnsy evleflgrgt fgqvakcwkr stkeivaiki lknhpsyarq gqievsilsr
      241 lssenadeyn fvrsyecfqh knhtclvfem leqnlydflk qnkfsplplk yirpilqqva
      301 talmklkslg lihadlkpen imlvdpvrqp yrvkvidfgs ashvskavcs tylqsryyra
      361 peiilglpfc eaidmwslgc viaelflgwp lypgaseydq iryisqtqgl paeyllsagt
      421 kttrffnrdp nlgyplwrlk tpeeheletg ikskearkyi fnclddmaqv nmstdlegtd
      481 mlaekadrre yidllkkmlt idadkritpl ktlnhqfvtm thlldfphsn hvkscfqnme
      541 ickrrvhmyd tasvlassst aaaatlslan sdvsllnyqs alypssaapv pgvaqqgvsl
      601 qpgttqictq tdpfqqtfiv cppafqtglq attkhsgfpv rmdnavpivp qapaaqplqi
      661 qsgvltqgsc tplmvatlhp qvatitpqya vpftlscaag rpalveqtaa vlqawpggtq
      721 qillpstwqq lpgvalhnsv qptamipeam gsgqqladwr nahshgnqys timqqpsllt
      781 nhvtlataqp lnvgvahvvr qqqssslpsk knkqsapvss kssldvlpsq vyslvgsspl
      841 rttssynslv pvqdqhqpii ipdtpsppvs vitirsdtde eednkykpss sglkprsnvi
      901 syvtvndspd sdsslsspys tdtlsalrgn sgsvlegpgr vvadgtgtrt iivpplktql
      961 gdctvatqas gllsnktkpv asvsgqssgc citptgyraq rggtsaaqpl nlsqnqqssa
     1021 aptsqerssn paprrqqafv aplsqapytf qhgsplhstg hphlapapah lpsqahlyty
     1081 aaptsaaalg stssiahlfs pqgssrhaaa ytthpstlvh qvpvsvgpsl ltsasvapaq
     1141 yqhqfatqsy igssrgstiy tgyplsptki sqysyl
//
LOCUS       NP_001381820             742 aa            linear   PRI 01-JAN-2023
DEFINITION  LIM domain and actin-binding protein 1 isoform 7 [Homo sapiens].
ACCESSION   NP_001381820
VERSION     NP_001381820.1
DBSOURCE    REFSEQ: accession NM_001394891.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 742)
  AUTHORS   Qi Y, Wang H, Zhang Q, Liu Z, Wang T, Wu Z and Wu W.
  TITLE     CAF-Released Exosomal miR-20a-5p Facilitates HCC Progression via
            the LIMA1-Mediated beta-Catenin Pathway
  JOURNAL   Cells 11 (23), 3857 (2022)
   PUBMED   36497115
  REMARK    GeneRIF: CAF-Released Exosomal miR-20a-5p Facilitates HCC
            Progression via the LIMA1-Mediated beta-Catenin Pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 742)
  AUTHORS   Zeng J, Jiang WG and Sanders AJ.
  TITLE     Epithelial Protein Lost in Neoplasm, EPLIN, the Cellular and
            Molecular Prospects in Cancers
  JOURNAL   Biomolecules 11 (7), 1038 (2021)
   PUBMED   34356662
  REMARK    GeneRIF: Epithelial Protein Lost in Neoplasm, EPLIN, the Cellular
            and Molecular Prospects in Cancers.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 742)
  AUTHORS   Linklater ES, Duncan ED, Han KJ, Kaupinis A, Valius M, Lyons TR and
            Prekeris R.
  TITLE     Rab40-Cullin5 complex regulates EPLIN and actin cytoskeleton
            dynamics during cell migration
  JOURNAL   J Cell Biol 220 (7) (2021)
   PUBMED   33999101
  REMARK    GeneRIF: Rab40-Cullin5 complex regulates EPLIN and actin
            cytoskeleton dynamics during cell migration.
REFERENCE   4  (residues 1 to 742)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   5  (residues 1 to 742)
  AUTHORS   Goncalves J, Sharma A, Coyaud E, Laurent EMN, Raught B and
            Pelletier L.
  TITLE     LUZP1 and the tumor suppressor EPLIN modulate actin stability to
            restrict primary cilia formation
  JOURNAL   J Cell Biol 219 (7) (2020)
   PUBMED   32496561
  REMARK    GeneRIF: LUZP1 and the tumor suppressor EPLIN modulate actin
            stability to restrict primary cilia formation.
REFERENCE   6  (residues 1 to 742)
  AUTHORS   Maul RS, Song Y, Amann KJ, Gerbin SC, Pollard TD and Chang DD.
  TITLE     EPLIN regulates actin dynamics by cross-linking and stabilizing
            filaments
  JOURNAL   J Cell Biol 160 (3), 399-407 (2003)
   PUBMED   12566430
REFERENCE   7  (residues 1 to 742)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   8  (residues 1 to 742)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   9  (residues 1 to 742)
  AUTHORS   Chen S, Maul RS, Kim HR and Chang DD.
  TITLE     Characterization of the human EPLIN (Epithelial Protein Lost in
            Neoplasm) gene reveals distinct promoters for the two EPLIN
            isoforms
  JOURNAL   Gene 248 (1-2), 69-76 (2000)
   PUBMED   10806352
REFERENCE   10 (residues 1 to 742)
  AUTHORS   Maul RS and Chang DD.
  TITLE     EPLIN, epithelial protein lost in neoplasm
  JOURNAL   Oncogene 18 (54), 7838-7841 (1999)
   PUBMED   10618726
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008147.31 and AC139016.12.
            
            Summary: This gene encodes a cytoskeleton-associated protein that
            inhibits actin filament depolymerization and cross-links filaments
            in bundles. It is downregulated in some cancer cell lines.
            Alternatively spliced transcript variants encoding different
            isoforms have been described for this gene, and expression of some
            of the variants maybe independently regulated. [provided by RefSeq,
            Aug 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.223971.1,
                                           SRR1803613.231315.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..742
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     Protein         1..742
                     /product="LIM domain and actin-binding protein 1 isoform
                     7"
                     /note="sterol regulatory element binding protein 3;
                     epithelial protein lost in neoplasm beta"
                     /calculated_mol_wt=83271
     Region          373..425
                     /region_name="LIM_Eplin_alpha_beta"
                     /note="The Lim domain of Epithelial Protein Lost in
                     Neoplasm (Eplin); cd09485"
                     /db_xref="CDD:188869"
     Site            order(373,376,394,397,400,403,421,424)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188869"
     CDS             1..742
                     /gene="LIMA1"
                     /gene_synonym="EPLIN; LDLCQ8; SREBP3"
                     /coded_by="NM_001394891.1:125..2353"
                     /note="isoform 7 is encoded by transcript variant 10"
                     /db_xref="GeneID:51474"
                     /db_xref="HGNC:HGNC:24636"
                     /db_xref="MIM:608364"
ORIGIN      
        1 messpfnrrq wtslslrvta kelslvnknk ssaiveifsk yqkaaeetnm ekkrsntenl
       61 sqhfrkgtlt vlkkkwenpg lgaeshtdsl rnssteirhr adhppaevts haasgakadq
      121 eeqihprsrl rsppealvqg ryphikdged lkdhsteskk menclgesrh evekseisen
      181 tdasgkieky nvplnrlkmm fekgeptqtk ilraqsrsas grkisensys lddleigpgq
      241 lssstfdsek nesrrnlelp rlsetsikdr makyqaavsk qssstnytne lkasggeiki
      301 hkmeqkenvp pgpevcithq egekisanen slavrstpae ddspsascsw ylisapafhf
      361 ppnkfqapar etcvecqktv ypmerllanq qvfhiscfrc sycnnklslg tyaslhgriy
      421 ckphfnqlfk skgnydegfg hrphkdlwas kneneeiler paqlanaret phspgvedap
      481 iakvgvlaas meakassqqe kedkpaetkk lriawpppte lgssgsalee gikmskpkwp
      541 pedeiskpev pedvdldlkk lrrssslker srpftvaasf qstsvkspkt vsppirkgws
      601 mseqseesvg grvaerkqve nakaskkngn vgkttwqnke skgetgkrsk eghslemene
      661 nlvengadsd eddnsflkqq spqepkslnw ssfvdntfae efttqnqksq dvelwegevv
      721 kelsveeqik rnryydeded ee
//
LOCUS       NP_003719                931 aa            linear   PRI 12-MAR-2023
DEFINITION  netrin receptor UNC5C precursor [Homo sapiens].
ACCESSION   NP_003719
VERSION     NP_003719.3
DBSOURCE    REFSEQ: accession NM_003728.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 931)
  AUTHORS   Wang H, Zhou Z, Liu Y, Wang P, Chen L, Qi S, Xie J and Tang J.
  TITLE     Identification and validation of HOXD3 and UNC5C as molecular
            signatures in keloid based on weighted gene co-expression network
            analysis
  JOURNAL   Genomics 114 (4), 110403 (2022)
   PUBMED   35709926
  REMARK    GeneRIF: Identification and validation of HOXD3 and UNC5C as
            molecular signatures in keloid based on weighted gene co-expression
            network analysis.
REFERENCE   2  (residues 1 to 931)
  AUTHORS   Xing H, Wang P, Liu S, Jing S, Lin J, Yang J, Zhu Y and Yu M.
  TITLE     A global integrated analysis of UNC5C down-regulation in cancers:
            insights from mechanism and combined treatment strategy
  JOURNAL   Biomed Pharmacother 138, 111355 (2021)
   PUBMED   33706130
  REMARK    GeneRIF: A global integrated analysis of UNC5C down-regulation in
            cancers: insights from mechanism and combined treatment strategy.
REFERENCE   3  (residues 1 to 931)
  AUTHORS   Yuan M, Xie F, Xia X, Zhong K, Lian L, Zhang S, Yuan L and Ye J.
  TITLE     UNC5C-knockdown enhances the growth and metastasis of breast cancer
            cells by potentiating the integrin alpha6/beta4 signaling pathway
  JOURNAL   Int J Oncol 56 (1), 139-150 (2020)
   PUBMED   31789389
  REMARK    GeneRIF: UNC5Cknockdown enhances the growth and metastasis of
            breast cancer cells by potentiating the integrin alpha6/beta4
            signaling pathway.
REFERENCE   4  (residues 1 to 931)
  AUTHORS   Yang HS, Chhatwal JP, Xu J, White CC, Hanseeuw B, Rabin JS, Papp
            KV, Buckley RF, Schultz AP, Properzi MJ, Gatchel JR, Amariglio RE,
            Donovan NJ, Mormino EC, Hedden T, Marshall GA, Rentz DM, Johnson
            KA, De Jager PL and Sperling RA.
  TITLE     An UNC5C Allele Predicts Cognitive Decline and Hippocampal Atrophy
            in Clinically Normal Older Adults
  JOURNAL   J Alzheimers Dis 68 (3), 1161-1170 (2019)
   PUBMED   30883345
  REMARK    GeneRIF: An UNC5C Allele Predicts Cognitive Decline and Hippocampal
            Atrophy in Clinically Normal Older Adults.
REFERENCE   5  (residues 1 to 931)
  AUTHORS   Guroo SA, Malik AA, Afroze D, Ali S, Pandith AA and Yusuf A.
  TITLE     Significant Pattern of Promoter Hypermethylation of UNC5C Gene in
            Colorectal Cancer and Its Implication in Late Stage Disease
  JOURNAL   Asian Pac J Cancer Prev 19 (5), 1185-1188 (2018)
   PUBMED   29801399
  REMARK    GeneRIF: Promoter Hypermethylation of UNC5C Gene is associated with
            Colorectal Cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 931)
  AUTHORS   Geisbrecht BV, Dowd KA, Barfield RW, Longo PA and Leahy DJ.
  TITLE     Netrin binds discrete subdomains of DCC and UNC5 and mediates
            interactions between DCC and heparin
  JOURNAL   J Biol Chem 278 (35), 32561-32568 (2003)
   PUBMED   12810718
REFERENCE   7  (residues 1 to 931)
  AUTHORS   Thiebault K, Mazelin L, Pays L, Llambi F, Joly MO, Scoazec JY,
            Saurin JC, Romeo G and Mehlen P.
  TITLE     The netrin-1 receptors UNC5H are putative tumor suppressors
            controlling cell death commitment
  JOURNAL   Proc Natl Acad Sci U S A 100 (7), 4173-4178 (2003)
   PUBMED   12655055
  REMARK    GeneRIF: may represent tumor suppressor that inhibit tumor
            extension outside the region of netrin-1 availability by inducing
            apoptosis
REFERENCE   8  (residues 1 to 931)
  AUTHORS   Kennedy TE.
  TITLE     Cellular mechanisms of netrin function: long-range and short-range
            actions
  JOURNAL   Biochem Cell Biol 78 (5), 569-575 (2000)
   PUBMED   11103947
  REMARK    Review article
REFERENCE   9  (residues 1 to 931)
  AUTHORS   Livesey FJ.
  TITLE     Netrins and netrin receptors
  JOURNAL   Cell Mol Life Sci 56 (1-2), 62-68 (1999)
   PUBMED   11213262
  REMARK    Review article
REFERENCE   10 (residues 1 to 931)
  AUTHORS   Ackerman SL and Knowles BB.
  TITLE     Cloning and mapping of the UNC5C gene to human chromosome 4q21-q23
  JOURNAL   Genomics 52 (2), 205-208 (1998)
   PUBMED   9782087
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC106881.9, AC098584.2 and
            AC105395.1.
            On Jul 31, 2010 this sequence version replaced NP_003719.2.
            
            Summary: This gene product belongs to the UNC-5 family of netrin
            receptors. Netrins are secreted proteins that direct axon extension
            and cell migration during neural development. They are bifunctional
            proteins that act as attractants for some cell types and as
            repellents for others, and these opposite actions are thought to be
            mediated by two classes of receptors. The UNC-5 family of receptors
            mediate the repellent response to netrin; they are transmembrane
            proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I
            thrombospondin motifs in the extracellular region. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.228788.1,
                                           SRR1660803.132071.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000453304.6/ ENSP00000406022.1
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..931
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q22.3"
     Protein         1..931
                     /product="netrin receptor UNC5C precursor"
                     /note="unc5 (C.elegans homolog) c; unc-5 homolog 3;
                     protein unc-5 homolog C; protein unc-5 homolog 3"
                     /calculated_mol_wt=99262
     sig_peptide     1..39
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3903
     Region          171..257
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          184..188
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          198..202
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          222..226
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          236..241
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            236
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95185.2)"
     Region          250..253
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          263..314
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          319..367
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Site            361
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95185.2)"
     Site            381..401
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95185.2)"
     Region          402..931
                     /region_name="Required for netrin-mediated axon repulsion
                     of neuronal growth cones.
                     /evidence=ECO:0000250|UniProtKB:O08747"
                     /note="propagated from UniProtKB/Swiss-Prot (O95185.2)"
     Site            415..416
                     /site_type="cleavage"
                     /note="Cleavage, by caspase-3.
                     /evidence=ECO:0000250|UniProtKB:Q761X5; propagated from
                     UniProtKB/Swiss-Prot (O95185.2)"
     Site            502
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O08747; propagated from
                     UniProtKB/Swiss-Prot (O95185.2)"
     Region          528..631
                     /region_name="ZU5"
                     /note="Domain present in ZO-1 and Unc5-like netrin
                     receptors; smart00218"
                     /db_xref="CDD:128514"
     Site            568
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:O08747; propagated from
                     UniProtKB/Swiss-Prot (O95185.2)"
     Region          678..817
                     /region_name="UPA"
                     /note="UPA domain; pfam17217"
                     /db_xref="CDD:435793"
     Region          694..712
                     /region_name="Interaction with DCC.
                     /evidence=ECO:0000250|UniProtKB:O08747"
                     /note="propagated from UniProtKB/Swiss-Prot (O95185.2)"
     Region          844..926
                     /region_name="Death_UNC5C"
                     /note="Death domain found in Uncoordinated-5C; cd08799"
                     /db_xref="CDD:260064"
     Site            order(877..878,880..881,891,894..895,898..899)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:260064"
     CDS             1..931
                     /gene="UNC5C"
                     /gene_synonym="UNC5H3"
                     /coded_by="NM_003728.4:117..2912"
                     /db_xref="CCDS:CCDS3643.1"
                     /db_xref="GeneID:8633"
                     /db_xref="HGNC:HGNC:12569"
                     /db_xref="MIM:603610"
ORIGIN      
        1 mrkglrataa rcglglgyll qmlvlpalal lsasgtgsaa qdddffhelp etfpsdppep
       61 lphfliepee ayivknkpvn lyckaspatq iyfkcnsewv hqkdhivder vdetsglivr
      121 evsieisrqq veelfgpedy wcqcvawssa gttksrkayv riaylrktfe qeplgkevsl
      181 eqevllqcrp pegipvaeve wlknediidp vedrnfyiti dhnliikqar lsdtanytcv
      241 aknivakrks ttatvivyvn ggwstwtews vcnsrcgrgy qkrtrtctnp aplnggafce
      301 gqsvqkiact tlcpvdgrwt pwskwstcgt ecthwrrrec tapapknggk dcdglvlqsk
      361 nctdglcmqt apdsddvaly vgiviavivc laisvvvalf vyrknhrdfe sdiidssaln
      421 ggfqpvnika arqdllavpp dltsaaamyr gpvyalhdvs dkipmtnspi ldplpnlkik
      481 vyntsgavtp qddlseftsk lspqmtqsll enealslknq slarqtdpsc tafgsfnslg
      541 ghlivpnsgv sllipagaip qgrvyemyvt vhrketmrpp mddsqtlltp vvscgppgal
      601 ltrpvvltmh hcadpntedw killknqaaq gqwedvvvvg eenfttpcyi qldaeachil
      661 tenlstyalv ghsttkaaak rlklaifgpl ccssleysir vyclddtqda lkeilhlerq
      721 mggqlleepk alhfkgsthn lrlsihdiah slwkskllak yqeipfyhvw sgsqrnlhct
      781 ftlerfslnt velvcklcvr qvegegqifq lnctvseept gidlplldpa ntittvtgps
      841 afsiplpirq klcssldapq trghdwrmla hklnldryln yfatkssptg vildlweaqn
      901 fpdgnlsmla avleemgrhe tvvslaaegq y
//
LOCUS       XP_016872337             331 aa            linear   PRI 20-MAR-2023
DEFINITION  outer mitochondrial transmembrane helix translocase isoform X1
            [Homo sapiens].
ACCESSION   XP_016872337
VERSION     XP_016872337.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017016848.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..331
                     /product="outer mitochondrial transmembrane helix
                     translocase isoform X1"
                     /calculated_mol_wt=37165
     Region          92..232
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            order(138..140,156,158..159,192..193)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:410865"
     Region          252..291
                     /region_name="AAA_lid_3"
                     /note="AAA+ lid domain; pfam17862"
                     /db_xref="CDD:436099"
     CDS             1..331
                     /gene="ATAD1"
                     /gene_synonym="AFDC1; FNP001; hATAD1; HKPX4; Msp1;
                     THORASE"
                     /coded_by="XM_017016848.2:446..1441"
                     /db_xref="GeneID:84896"
                     /db_xref="HGNC:HGNC:25903"
                     /db_xref="MIM:614452"
ORIGIN      
        1 mvhaeafsrp lsrnevvgli frltifgavt yftikwmvda idptrkqkve aqkqaeklmk
       61 qigvknvkls eyemsiaahl vdplnmhvtw sdiaglddvi tdlkdtvilp ikkkhlfens
      121 rllqppkgvl lygppgcgkt liakatakea gcrfinlqps tltdkwyges qklaaavfsl
      181 aiklqpsiif ideidsflrn rsssdheata mmkaqfmslw dgldtdhscq alkqreailk
      241 lilknenvdr hvdllevaqe tdgfsgsdlk emcrdaallc vreyvnstse eshdedeirp
      301 vqqqdlhrai ekmkkskdaa fqnvlthvcl d
//
LOCUS       XP_047284655             417 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box/WD repeat-containing protein 8 isoform X4 [Homo sapiens].
ACCESSION   XP_047284655
VERSION     XP_047284655.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428699.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..417
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..417
                     /product="F-box/WD repeat-containing protein 8 isoform X4"
                     /calculated_mol_wt=46266
     Region          79..116
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          82..>383
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          255..291
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          297..332
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..417
                     /gene="FBXW8"
                     /gene_synonym="FBW6; FBW8; FBX29; FBXO29; FBXW6"
                     /coded_by="XM_047428699.1:28..1281"
                     /db_xref="GeneID:26259"
                     /db_xref="HGNC:HGNC:13597"
                     /db_xref="MIM:609073"
ORIGIN      
        1 mrccgtgcas rkgtfriaas ltilagssss ksaeprntcy eptgrytsgd vrvwdtrtwd
       61 yvapflesed eedepgmqpn vsfvrinssl avaayedgfl niwdlrtgky pvhrfehdar
      121 iqalalsqdd atvatasafd vvmlspneeg ywqiaaefev pklvqyleiv petrrypvav
      181 aaagdlmyll kaedsartll yahgppvtcl dvsanqvafg vqglgwvyeg skilvyslea
      241 grrllklgnv lrdftcvnls dsppnlmvsg nmdgrvrihd lrsgnialsl sahqlrvsav
      301 qmddwkivsg geeglvsvwd yrmnqklwev ysghpvqhis fsshslitan vpyqtvmrna
      361 dldsftthrr hrglirayef avdqlafqsp lpvcrsscda mathyydlal afpynhv
//
LOCUS       XP_047289197            4875 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase HERC1 isoform X23 [Homo
            sapiens].
ACCESSION   XP_047289197
VERSION     XP_047289197.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433241.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4875
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..4875
                     /product="probable E3 ubiquitin-protein ligase HERC1
                     isoform X23"
                     /calculated_mol_wt=533513
     Region          374..731
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          2032..2189
                     /region_name="SPRY_HERC1"
                     /note="SPRY domain in HERC1; cd12881"
                     /db_xref="CDD:293939"
     Region          2745..2788
                     /region_name="UBA_HERC1"
                     /note="UBA domain found in probable E3 ubiquitin-protein
                     ligase HERC1 and similar proteins; cd14401"
                     /db_xref="CDD:270584"
     Region          3438..3789
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(3441,3459,3463,3469..3470,3497..3498,3520,
                     3526..3527,3539..3540,3565,3570,3576..3577,3595,3612,3617,
                     3638..3639,3657,3661,3667..3668,3681..3682,3706,3711,
                     3717..3718,3759..3760,3778,3782,3788..3789)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          3446..3489
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3503..3538
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3543..3590
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3599..3634
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3643..3679
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3686..3717
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3764..3800
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          4012..4360
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          4487..4855
                     /region_name="HECTc"
                     /note="HECT domain; C-terminal catalytic domain of a
                     subclass of Ubiquitin-protein ligase (E3). It binds
                     specific ubiquitin-conjugating enzymes (E2), accepts
                     ubiquitin from E2, transfers ubiquitin to substrate lysine
                     side chains, and transfers additional...; cd00078"
                     /db_xref="CDD:238033"
     Site            order(4492,4533,4544,4611,4789,4819..4820,4823..4827,4847,
                     4854)
                     /site_type="active"
                     /note="catalytic cleft [active]"
                     /db_xref="CDD:238033"
     Site            order(4639,4642..4643,4645..4646,4649,4657,4659,
                     4663..4664,4666,4675,4680,4697,4701)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..4875
                     /gene="HERC1"
                     /gene_synonym="MDFPMR; p532; p619"
                     /coded_by="XM_047433241.1:149..14776"
                     /db_xref="GeneID:8925"
                     /db_xref="HGNC:HGNC:4867"
                     /db_xref="MIM:605109"
ORIGIN      
        1 matmippvkl kwlehlnssw itedsesiat regvavlysk lvsnkevvpl pqqvlclkgp
       61 qlpdferesl ssdeqdhyld allssqlala kmvcsdspfa galrkrllvl qrvfyalsnk
      121 yhdkgkvkqq qhspesssgs advhsvserp rsstdaliem gvrtglsllf allrqswmmp
      181 vsgpglslcn dvihtaievv sslpplslan eskippmgld clsqvttflk gvtipnsgad
      241 tlgrrlasel llglaaqrgs lryllewiem algasavvht mekgkllssq egmisfdcfm
      301 tilmqmrrsl gssadrsqwr eptrtsdglc slyeaalclf eevcrmasdy srtcaspdsi
      361 qtgdapivse tcevyvwgsn sshqlvegtq ekilqpklap sfsdaqtiea gqyctfvist
      421 dgsvracgkg sygrlglgds nnqstlkklt fephrsikkv ssskgsdght lafttegevf
      481 swgdgdygkl ghgnsstqky pkliqgplqg kvvvcvsagy rhsaavtedg elytwgegdf
      541 grlghgdsns rniptlvkdi snvgevscgs shtialskdg rtvwsfgggd ngklghgdtn
      601 rvykpkviea lqgmfirkvc agsqsslalt stgqvyawgc gaclgcgsse atalrpklie
      661 elaatrivdv sigdshclal shdnevyawg nnsmgqcgqg nstgpitkpk kvsgldgiai
      721 qqisagtshs lawtalprdr qvvawhrpyc vdleestfsh lrsflerycd kinseipplp
      781 fpssrehhsf lklclkllsn hlalalaggv atsilgrqag plrnllfrlm dstvpdeiqe
      841 vvietlsvga tmllpplrer mellhsllpq gpdrweslsk gqrmqldiil tslqdhthva
      901 sllgysspsd aadlssvctg ygnlsdqpyg tqschpdthl aeilmktllr nlgfytdqaf
      961 geleknsdkf llgtsssens qpahlhellc slqkqllafc hinnisenss svallhkhlq
     1021 lllphatdiy srsanllkes pwngsvgekl rdviyvsaag smlcqivnsl lllpvsvarp
     1081 llsylldllp pldclnrllp aadlledqel qwplhggpel idpaglplpq paqswvwlvd
     1141 lertiallig rclggmlqgs pvspeeqdta ywmktplfsd gvemdtpqld kcmsclleva
     1201 lsgneeqkpf dyklrpeiav yvdlalgcsk eparslwism qdyavskdwd satlsnesll
     1261 dtvsrfvlaa llkhtnllsq acgesryqpg khlsevyrcv ykvrsrllac knleliqtrs
     1321 ssrdrwisen qdsadvdpqe hsftrtidee aemeeqaerd reeghpeped eeeerehevm
     1381 tagkifqcfl sarevarsrd rdrmnsgags garaddpppq sqqerrvstd lpegqdvyta
     1441 acnsvihrca llilgvspvi delqkrreeg qlqqpstsas eggglmtrse sltaesrlvh
     1501 tspnyrliks rsesdlsqpe sdeegyalsg rrnvdldlaa shrkrgpmhs qleslsdswa
     1561 rlkhsrdwlc nssysfesdf dltkslgvht lienvvsfvs gdvgnapgfk epeesmstsp
     1621 qasiiameqq qlraelrlea lhqilvllsg meekgsisla gsrlssgfqs stlltsvrlq
     1681 flagcfglgt vghtggkges grlhhyqdgi raakrniqie iqvavhkiyq qlsatleral
     1741 qankhhieaq qrlllvtvfa lsvhyqpvdv slaistglln vlsqlcgtdt mlgqplqllp
     1801 ktgvsqlsta lkvastrllq ilaittgtya dklspkvvqs lldllcsqlk nllsqtgvlh
     1861 masfgegeqe dgeeeekkvd ssgetekkdf raalrkqhaa elhlgdflvf lrrvvsskai
     1921 qskmaspkwt evllniasqk cssgiplvgn lrtrllalhv leavlpaces gveddqmaqi
     1981 verlfsllsd cmwetpiaqa khaiqikeke qeiklqkqge leeedenlpi qevsfdpeka
     2041 qcclvengqi lthgsggkgy glastgvtsg cyqwkfyivk enrgnegtcv gvsrwpvhdf
     2101 nhrttsdmwl yraysgnlyh ngeqtltlss ftqgdfitcv ldmeartisf gkngeepkla
     2161 fedvdaaely pcvmfyssnp gekvkicdmq mrgtprdllp gdpicspvaa vlaeatiqli
     2221 rilhrtdrwt ycinkkmmer lhkikicike sgqklkksrs vqsreenemr eekeskeeek
     2281 gkhtrhglad lselqlrtlc ievwpvlavi ggvdaglrvg grcvhkqtgr hatllgvvke
     2341 gstsakvqwd eaeitisdtp lynlepcepl pfdvarfrgl tasvlldlty ltgvhedmgk
     2401 qstkrhekkh rheseekgdv eqkpesesal dmrtgltsdd vksqsttssk seneiasfsl
     2461 dptlpsvesq hqitegkrkn hehmsknhdv aqseiravql sylylgamks lsallgcsky
     2521 aelllipkvl aenghnsdca sspvvhedve mraalqflmr hmvkravmrs pikralglad
     2581 leraqamiyk lvvhglledq fggkikqeid qqaeesdpaq qaqtpvttsp sassttsfms
     2641 ssledtttat tpvtdtetvp asespgvmpl sllrqmfssy ptttvlptrr aqtppisslp
     2701 tspsdevgrr qsltspdsqs arpanrtals dpssrlstsp pppaiavpll emgfslrqia
     2761 kameatgarg eadaqnitvl amwmiehpgh edeeepqsgs tadsrpgaav lgsggksndp
     2821 cylqspgdip sadaaemeeg fsespdnldh tenaasgsgp sargrsavtr rhkfdlaart
     2881 llaraaglyr svqahrnqsr regislqqdp galydfnlde eleidlddea meamfgqdlt
     2941 sdndilgmwi pevldwptwh vcesedreev vvcelcecsv vsfnqhmkrn hpgcgrsanr
     3001 qgyrsngsyv dgwfggecgs gnpyyllcgt crekylamkt kskstssery kgqapdligk
     3061 qdsvyeedwd mldvdedekl tgeeefella gplglndrri vpepvqfpds dplgasvamv
     3121 tatnsmeetl mqielcfsgc hgsveksssg ritlgeqaaa lanphdrvva lrrvtaaaqv
     3181 llartmvmra lsllsvsgss cslaaglesl gltdirtlvr lmclaaagra glstspsama
     3241 stsersrggh skankpiscl aylstavgcl asnapsaakl lvqlctqnli saatgvnltt
     3301 vddsiqrkfl psflrgiaee nklvtspnfv vtqalvalla dkgaklrpny dksevekkgl
     3361 iaqlyahpsy dpsavgplel analaaccls srlssqhrqw aaqqlvrtla ahdrdnqttl
     3421 qtladmggdl rkcsfiklea hqnrvmtcvw cnkkgllats gndgtirvwn vtkkqyslqq
     3481 tcvfnrlegd aeeslgspsd psfspvswsi sgkylagale kmvniwqvng gkglvdiqph
     3541 wvsalawpee gpatawsges pelllvgrmd gslglievvd vstmhrrele hcyrkdvsvt
     3601 ciawfsedrp favgyfdgkl llgtkeplek ggivlidahk dtlismkwdp tghilmtcak
     3661 edsvklwgsi sgcwcclhsl chpsivngia wcrlpgkgsk lqllmatgcq sglvcvwrip
     3721 qdttqtnvts aegwweqesn cqdgyrkssg akcvyqlrgh itpvrtvafs sdglalvsgg
     3781 lgglmniwsl rdgsvlqtvv igsgaiqttv wipevgvaac snrskdvlvv nctaewaaan
     3841 hvlatcrtal kqqgvlglnm apcmrafler lpmmlqeqya yekphvvcgd qlvhspymqc
     3901 laslavglhl dqllcnppvp phhqnclpdp aswnpnewaw lecfsttika aealtngaqf
     3961 pesftvpdle pvpedelvfl mdnskwingm deqimswats rpedwhlggk cdvylwgagr
     4021 hgqlaeagrn vmvpaaapsf sqaqqvicgq nctfviqang tvlacgegsy grlgqgnsdd
     4081 lhvltvisal qgfvvtqlvt scgsdghsma ltesgevfsw gdgdygklgh gnsdrqrrpr
     4141 qiealqgeev vqmscgfkhs avvtsdgklf tfgngdygrl glgntsnkkl pervtalegy
     4201 qigqvacgln htlavsadgs mvwafgdgdy gklglgnsta ksspqkidvl cgigikkvac
     4261 gtqfsvaltk dghvytfgqd rliglpegra rnhnrpqqip vlagviiedv avgaehtlal
     4321 asngdvyawg snsegqlglg htnhvreptl vtglqgknvr qisagrchsa awtappvppr
     4381 apgvsvplql glpdtvppqy galrevsiht vrarlrllyh fsdlmysswr llnlspnnqn
     4441 stshynagtw givqgqlrpl laprvytlpm vrsigktmvq gknygpqitv kristrgrkc
     4501 kpifvqiarq vvklnasdlr lpsrawkvkl vgegaddagg vfddtitemc qeletgivdl
     4561 lipspnatae vgynrdrflf npsacldehl mqfkflgilm gvairtkkpl dlhlaplvwk
     4621 qlccvpltle dleevdllyv qtlnsilhie dsgiteesfh emipldsfvg qsadgkmvpi
     4681 ipggnsiplt fsnrkeyver aieyrlhemd rqvaavregm swivpvplls lltakqleqm
     4741 vcgmpeisve vlkkvvryre vdeqhqlvqw fwhtleefsn eervlfmrfv sgrsrlpant
     4801 adisqrfqim kvdrpydslp tsqtcffqlr lppyssqlvm aerlryainn crsidmdnym
     4861 lsrnvdnaeg sdtdy
//
LOCUS       XP_011520490             607 aa            linear   PRI 20-MAR-2023
DEFINITION  protein regulator of cytokinesis 1 isoform X2 [Homo sapiens].
ACCESSION   XP_011520490
VERSION     XP_011520490.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011522188.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..607
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..607
                     /product="protein regulator of cytokinesis 1 isoform X2"
                     /calculated_mol_wt=70458
     Region          16..477
                     /region_name="MAP65_ASE1"
                     /note="Microtubule associated protein (MAP65/ASE1 family);
                     pfam03999"
                     /db_xref="CDD:427641"
     CDS             1..607
                     /gene="PRC1"
                     /gene_synonym="ASE1"
                     /coded_by="XM_011522188.4:119..1942"
                     /db_xref="GeneID:9055"
                     /db_xref="HGNC:HGNC:9341"
                     /db_xref="MIM:603484"
ORIGIN      
        1 mrrsevlaee sivclqkaln hlreiwelig ipedqrlqrt evvkkhikel ldmmiaeees
       61 lkerliksis vcqkelntlc selhvepfqe egettilqle kdlrtqvelm rkqkkerkqe
      121 lkllqeqdqe lceilcmphy didsasvpsl eelnqfrqhv ttlretkasr reefvsikrq
      181 iilcmealdh tpdtsferdv vcededafcl sleniatlqk llrqlemqks qneavceglr
      241 tqirelwdrl qipeeereav atimsgskak vrkalqlevd rleelkmqnm kkvieairve
      301 lvqywdqcfy sqeqrqafap fcaedytesl lqlhdaeivr lknyyevhke lfegvqkwee
      361 twrlflefer kasdpnrftn rggnllkeek qraklqkmlp kleeelkari elweqehska
      421 fmvngqkfme yvaeqwemhr lekerakqer qlknkkqtet emlygsaprt pskrrglapn
      481 tpgkarklnt ttmsnatans sirpifggtv yhspvsrlpp sgskpvaast csgkktprtg
      541 rhgankenle lngsilsggy pgsaplqrnf sinsvastys efadslppee nvfvcpklrw
      601 pallpkr
//
LOCUS       XP_016878371             419 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase PRDM7 isoform X1 [Homo sapiens].
ACCESSION   XP_016878371
VERSION     XP_016878371.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017022882.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..419
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..419
                     /product="histone-lysine N-methyltransferase PRDM7 isoform
                     X1"
                     /calculated_mol_wt=47001
     Region          98..128
                     /region_name="SSXRD"
                     /note="SSXRD motif; pfam09514"
                     /db_xref="CDD:430657"
     Region          167..294
                     /region_name="PR-SET_PRDM7_9"
                     /note="PR-SET domain found in PR domain zinc finger
                     protein 7 (PRDM7) and 9 (PRDM9) and similar proteins;
                     cd19193"
                     /db_xref="CDD:380970"
     Site            order(180,183..185,203,214..215,217..221,231,244..248,250,
                     259..260,284..285,287..288,291..292)
                     /site_type="active"
                     /db_xref="CDD:380970"
     Site            order(180,183..185,217..218,244..248,250,284,288,292)
                     /site_type="other"
                     /note="SAM binding site"
                     /db_xref="CDD:380970"
     CDS             1..419
                     /gene="PRDM7"
                     /gene_synonym="PFM4; ZNF910"
                     /coded_by="XM_017022882.2:774..2033"
                     /db_xref="GeneID:11105"
                     /db_xref="HGNC:HGNC:9351"
                     /db_xref="MIM:609759"
ORIGIN      
        1 mchrrqaikl qvddtedsde ewtprqqvkp pwmafrgeqs khqkgmpkas fnnesslrel
       61 sgtpnllnts dseqaqkpvs ppgeastsgq hsrlklelrr ketegkmysl rerkghayke
      121 isepqdddyl ycemcqnffi dscaahgppt fvkdsavdkg hpnrsalslp pglrigpsgi
      181 pqaglgvwne asdlplglhf gpyegrited eeaansgysw litkgrncye yvdgkdkssa
      241 nwmryvncar ddeeqnlvaf qyhrqifyrt crvirpgcel lvwsgdeygq elgirssiep
      301 aeslgqavnc wsgmgmsmar nwassgaasg rksswqgenq sqrsihvpha vwpfqvknfs
      361 vnmwnaitpl rtsqdhlqen fsnqripaqg irirsgnili haavmtkpkv krskkgpns
//
LOCUS       XP_047303748            1793 aa            linear   PRI 20-MAR-2023
DEFINITION  neurobeachin-like protein 2 isoform X10 [Homo sapiens].
ACCESSION   XP_047303748
VERSION     XP_047303748.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447792.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1793
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1793
                     /product="neurobeachin-like protein 2 isoform X10"
                     /calculated_mol_wt=195828
     Region          877..1128
                     /region_name="DUF4704"
                     /note="Domain of unknown function (DUF4704); pfam15787"
                     /db_xref="CDD:406270"
     Region          1587..>1767
                     /region_name="DUF4800"
                     /note="Domain of unknown function (DUF4800); pfam16057"
                     /db_xref="CDD:435104"
     CDS             1..1793
                     /gene="NBEAL2"
                     /gene_synonym="BDPLT4; GPS"
                     /coded_by="XM_047447792.1:197..5578"
                     /db_xref="GeneID:23218"
                     /db_xref="HGNC:HGNC:31928"
                     /db_xref="MIM:614169"
ORIGIN      
        1 maaserlyel wllyyaqkdl gylqqwlkaf vgafkksisl ssleprrpee agaevpllpl
       61 delhvlaeql hqadleqall llklfiilcr nlenieagrg qvlvprvlal ltklvaelkg
      121 cpppqgrgtq lenvalhall lceglfdpyq twrrqrsgev isskekskyk fppaalpqef
      181 saffqeslqn adhlppilll rlihlfcavl aggkengqma vsdgsvkgll svvrgwsrgp
      241 apdpclvpla lealvgavhv lhasrapprg pelrallesy fhvlnadwpa glssgpeeal
      301 vtlrvsmlda ipmmlacedr pvlqatflsn ncfehltrli qnsklylqsr appegdsdla
      361 trlltepdvq kvldqdtdai avhvvrvltc imsdspsake vfkerigyph lqevlqshgp
      421 pthrllqell nmavegdhsm cppppirneq pvlvlaqwlp slptaelrlf laqrlrwlcd
      481 scpasratcv qaglvgclle tlstglalea rcqeqllall qalgrvsirp melrhllrpr
      541 pgldsepgga eagkarhaga virtlsgmar hqgparalry fdltpsmagi mvppvqrwpg
      601 pgftfhawlc lhpmdtaptp aptrplqrkq lysfftssgs gfeafftaag tlvvavctrk
      661 eyltmslpev sfadsawhcv aivhvpgrrp fsqnlvhvyk dghlvktapl rcpslsepfs
      721 sccigsagyr ttttttglpt ppvpatlayt hpaltrsqsv pastglgwgs glvaplqegs
      781 idstlagtqd trwgsptsle gelgavaifh ealqatalrt lctlgpneta pfkpegelhe
      841 lstrlllhys pqacknnicl dlspshgldg rltghrvetw dvkdvvncvg gmgallplle
      901 rvaaqpkeae agpaethdlv gpeltsghnt qglvlplgks seermernav aafllmlrnf
      961 lqghmvnqes lvqcqgpaii gallrkvpsw amdmnvlmsa qllmeqvaae gsgpllylly
     1021 qhllfnfhlw tlsdfavrlg hiqymssivr ehrqklrkky gvqfildalr thyspqrerp
     1081 laaddlrtvq tsllglaref lvrslsaddv qvtqtmlsfl aatgddgqav galdlllall
     1141 hgslvqesla vfllepgnle vllallvrpg slpllpdrvc kilrrlqqne rlpersrqrl
     1201 rlrecglqgl vaclpegtvs pqlcqglykl flgadclnls dllavvqlsl qadlsvrldi
     1261 crqlfhliyg qpdvvrllar qagwqdvltr lyvleaatag spppsspesp tspkpappkp
     1321 ptespaepsd vflpseapcp dpdgfyhals pfctpfdlgl erssvgsgnt aggggssgtl
     1381 tpasqpgtps pldgprpfpa apgrhsssls nvledgslpe ptisgddtsn tsnpqqtsee
     1441 elcnlltnvl fsvtwrgveg sdeaawrerg qvfsvltqlg asatlvrppd cikrsllemm
     1501 lesaltdike apvgvlaslt qqalwllrll qdflcaeghg nqelwseklf egvcslldrl
     1561 gawphlangt adlremaqig lrlvlgyill edpqlhaqay vrlhmllqta vparreeacy
     1621 vlskleaalg rvlntssles atdeagspla aaaaaaaaer cswlvplvrt lldrayeplg
     1681 lqwglpslpp tngsptffed fqafcatpew rhfidkqvqp tmsqfemdty akshdlmsgf
     1741 wnacydmlms sgqrrqwera qsrrafqvch pgswcwnlrr ggrawrgyat rqc
//
LOCUS       XP_016865299             198 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 192 isoform X5 [Homo
            sapiens].
ACCESSION   XP_016865299
VERSION     XP_016865299.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009810.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_016865299.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..198
                     /product="coiled-coil domain-containing protein 192
                     isoform X5"
                     /calculated_mol_wt=21780
     CDS             1..198
                     /gene="CCDC192"
                     /gene_synonym="LINC01183"
                     /coded_by="XM_017009810.3:2..598"
                     /db_xref="GeneID:728586"
                     /db_xref="HGNC:HGNC:49566"
ORIGIN      
        1 mpvdvcprdr gsqwvwlemg qcyskksvvp esdtserssm tsgssesdip qenkvskasl
       61 dtgqmaftla qlesleiclk eaeekakals eqlsvsegtk sklleqvsrl eekleavdhk
      121 easggpyekm vlvkdqciqk lqaevkasqe qliaqklkhe kkvkklqtdl atanaitvle
      181 lnekiktlye gkpaprgs
//
LOCUS       XP_047276152             189 aa            linear   PRI 20-MAR-2023
DEFINITION  thiamin pyrophosphokinase 1 isoform X3 [Homo sapiens].
ACCESSION   XP_047276152
VERSION     XP_047276152.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420196.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..189
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..189
                     /product="thiamin pyrophosphokinase 1 isoform X3"
                     /calculated_mol_wt=20867
     Region          <58..187
                     /region_name="PLN02714"
                     /note="thiamin pyrophosphokinase"
                     /db_xref="CDD:178316"
     CDS             1..189
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /coded_by="XM_047420196.1:85..654"
                     /db_xref="GeneID:27010"
                     /db_xref="HGNC:HGNC:17358"
                     /db_xref="MIM:606370"
ORIGIN      
        1 mevptaymis pkerekasnl klssrppats hlirtpkdth ycgaskglgn sfignesflp
       61 efingdfdsi rpevreyyat kgcelistpd qdhtdftkcl kmlqkkieek dlkgkhrlhv
      121 dtgmegdwcg lipvgqpcmq vtttglkwnl tndvlafgtl vstsntydgs gvvtvetdhp
      181 llwtmaiks
//
LOCUS       XP_054227870            1016 aa            linear   PRI 20-MAR-2023
DEFINITION  thyrotropin-releasing hormone-degrading ectoenzyme isoform X1 [Homo
            sapiens].
ACCESSION   XP_054227870
VERSION     XP_054227870.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371895.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1016
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1016
                     /product="thyrotropin-releasing hormone-degrading
                     ectoenzyme isoform X1"
                     /calculated_mol_wt=115738
     CDS             1..1016
                     /gene="TRHDE"
                     /gene_synonym="PAP-II; PGPEP2; TRH-DE"
                     /coded_by="XM_054371895.1:275..3325"
                     /db_xref="GeneID:29953"
                     /db_xref="HGNC:HGNC:30748"
                     /db_xref="MIM:606950"
ORIGIN      
        1 maldgelgeq eeekkkkkkk rkkkkeeeee eeegaeksss pfaaamgedd aalragsrgl
       61 sdpwadsvgv rprtterhia vhkrlvlafa vslvallavt mlavllslrf decgasatpg
      121 adggpsgfpe rggngslpgs arrnhhaggd swqpeaggva spgttsaqpp seeerepwep
      181 wtqlrlsghl kplhynlmlt afmenftfsg evnveiacrn atryvvlhas rvavekvqla
      241 edrafgavpv agfflypqtq vlvvvlnrtl daqrnynlki iynalienel lgffrssyvl
      301 hgerrflgvt qfsptharka fpcfdepiyk atfkisikhq atylslsnmp vetsvfeedg
      361 wvtdhfsqtp lmstyylawa icnftyrett tksgvvvrly arpdairrgs gdyalhitkr
      421 liefyedyfk vpyslpkldl lavpkhpyaa menwglsifv eqrilldpsv ssisylldvt
      481 mvivheichq wfgdlvtpvw wedvwlkegf ahyfefvgtd ylypgwnmek qrfltdvlhe
      541 vmlldglass hpvsqevlqa tdidrvfdwi aykkgaalir mlanfmghsv fqrglqdylt
      601 ihkygnaarn dlwntlseal krngkyvniq evmdqwtlqm gypvitilgn ttaenriiit
      661 qqhfiydisa ktkalklqnn sylwqiplti vvgnrshvss eaiiwvsnks ehhrityldk
      721 gswllgninq tgyfrvnydl rnwrllidql irnhevlsvs nragliddaf slaragylpq
      781 nipleiiryl seekdflpwh aasralypld klldrmenyn ifneyilkqv attyiklgwp
      841 knnfngslvq asyqheelrr evimlacsfg nkhchqqast lisdwissnr nriplnvrdi
      901 vyctgvslld edvwefiwmk fhsttavsek killealtcs ddrnllnrll nlslnsevvl
      961 dqdaidviih varnphgrdl awkffrdkwk ilntscskiy sqdilfhgen slasil
//
LOCUS       XP_054228549            1284 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and sterile alpha motif domain-containing protein 1B
            isoform X2 [Homo sapiens].
ACCESSION   XP_054228549
VERSION     XP_054228549.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372574.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1284
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1284
                     /product="ankyrin repeat and sterile alpha motif
                     domain-containing protein 1B isoform X2"
                     /calculated_mol_wt=141948
     CDS             1..1284
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /coded_by="XM_054372574.1:700..4554"
                     /db_xref="GeneID:56899"
                     /db_xref="HGNC:HGNC:24600"
                     /db_xref="MIM:607815"
ORIGIN      
        1 mgkdqellea artgnvalve kllsgrkggi lgggsgplpl snllsiwrgp nvnctdssgy
       61 talhhaalng hkdivlkllq yeastnvadn kgyfpihlaa wkgdveivki lihhgpshsr
      121 vneqnnenet alhcaaqygh sevvavllee ltdptirnsk letpldlaal ygrlrvvkmi
      181 isahpnlmsc ntrkhtplhl aarnghkavv qvlleagmdv scqtekgsal heaalfgkvd
      241 vvrvlletgi danikdslgr tvldilkehp sqkslqiatl lqeylegvgr stvleepvqe
      301 datqethiss pvespsqktk setvtgelsk lldeiklcqe kdysfedlch tisdhyldnl
      361 skiseeelgk ngsqsvrtss tinlspgeve eedddentcg psglwealtp cngcrnlgfp
      421 mlaqesypkk rnytmeivps asldtfpsen enflcdlmdt avtkkpcsle iarapsprtd
      481 nasevavttp gtsnhrnsst gptpdcspps pdtalknivk virpqpkqrt sivssldfhr
      541 mnhnqeyfei ntstgctsft asppasppts svgttevkne gtnhtddlsr qddndppkey
      601 dpgqfagllh gsspacespe npfhlygkre qcekgqdevs lansplpfkq spiennsepl
      661 vkkikpkvvs rtifhkksnq lenhtivgtr strsgsrngd qwvmnaggfv eractlgrir
      721 slpkalidmh lsksvsksds dliaypcnek tsrvnwsess taehsskgns ertpsftsew
      781 eeidkimssi dvginnelke mngettrprc pvqtvgqwle siglpqyenh lmangfdnvq
      841 fmgsnvmedq dlleigilns ghrqrilqai qllpkmrpig hdgyhptsva ewldsielgd
      901 ytkaflingy tsmdllkkiw evelinvlki nlighrkril aslgdrlhdd ppqkpprsit
      961 lrepsgnhtp pqlspslsqs tyttggsldv phiimqgdar rrrnenyfdd iprsklerqm
     1021 aqqssvceiw tnqnagfpfs aihqvhntgd wgepsitlrp pneatastpv qywqhhpekl
     1081 ifqscdykaf ylgsmlikel rgtestqdac akmrancqks teqmkkvpti ilsvsykgvk
     1141 fidatnknii aeheirnisc aaqdpedlst fayitkdlks nhhychvfta fdvnlayeii
     1201 ltlgqafeva yqlalqarkg ghsstlpesf enkpskpipk prvsirksvi dpseqktlan
     1261 lpwivepgqe akrgintkye ttif
//
LOCUS       XP_054235222             890 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF23 isoform X2 [Homo sapiens].
ACCESSION   XP_054235222
VERSION     XP_054235222.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379247.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..890
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..890
                     /product="kinesin-like protein KIF23 isoform X2"
                     /calculated_mol_wt=102018
     CDS             1..890
                     /gene="KIF23"
                     /gene_synonym="CDAN3A; CHO1; KNSL5; MKLP-1; MKLP1"
                     /coded_by="XM_054379247.1:118..2790"
                     /db_xref="GeneID:9493"
                     /db_xref="HGNC:HGNC:6392"
                     /db_xref="MIM:605064"
ORIGIN      
        1 mksaraktpr kptvkkgsqt nlkdpvgvyc rvrplgfpdq eccievinnt tvqlhtpegy
       61 rlnrngdyke tqysfkqvfg thttqkelfd vvanplvndl ihgkngllft ygvtgsgkth
      121 tmtgspgegg llprcldmif nsigsfqakr yvfksndrns mdiqcevdal lerqkreamp
      181 npktssskrq vdpefadmit vqefckaeev dedsvygvfv syieiynnyi ydlleevpfd
      241 pikpkwnscs tpmrntdfvp pqskllredk nhnmyvagct evevksteea fevfwrgqkk
      301 rrianthlnr essrshsvfn iklvqaplda dgdnvlqeke qitisqlslv dlagsertnr
      361 traegnrlre agninqslmt lrtcmdvlre nqmygtnkmv pyrdsklthl fknyfdgegk
      421 vrmivcvnpk aedyeenlqv mrfaevtqev evarpvdkai cgltpgrryr nqprgpvgne
      481 plvtdvvlqs fpplpsceil dindeqtlpr liealekrhn lrqmmidefn kqsnafkall
      541 qefdnavlsk enhmqgklne kekmisgqkl eierlekknk tleykieile ktttiyeedk
      601 rnlqqeletq nqklqrqfsd krrlearlqg mvtettmkwe kecerrvaak qlemqnklwv
      661 kdeklkqlka ivtepktekp erpsrerdre kvtqrsvsps pvplssnyia qisngqqlms
      721 qpqlhrrsns cssisvasci seweqkipty ntplkvtsia rrrqqepgqs ktcivsdrrr
      781 gmywtegrev vptfrneiei eedhcgrgdi yktrgggqsv qftdietlkq espngsrkrr
      841 sstvapaqpd gaesewtdve trcsvavemr agsqlgpgyq hhaqpkrkkp
//
LOCUS       XP_054236276             694 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIFC3 isoform X16 [Homo sapiens].
ACCESSION   XP_054236276
VERSION     XP_054236276.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380301.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..694
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..694
                     /product="kinesin-like protein KIFC3 isoform X16"
                     /calculated_mol_wt=77722
     CDS             1..694
                     /gene="KIFC3"
                     /coded_by="XM_054380301.1:1008..3092"
                     /db_xref="GeneID:3801"
                     /db_xref="HGNC:HGNC:6326"
                     /db_xref="MIM:604535"
ORIGIN      
        1 mvenerlrqe mrrceaelqe lrtkpagpcp gcehsqesaq lrdklsqlql emaeskgmls
       61 elnlevqqkt drlaevelrl kdclaekaqe eerlsrrlrd shetiaslra qsppvkyvik
      121 tvevessktk qalsesqarn qhlqeqvamq rqvlkemeqq lqsshqltar lraqiamyes
      181 elerahgqml eemqsleedk nraieeafar aqvemkavhe nlagvrtnll tlqpalrtlt
      241 ndynglkrqv rgfplllqea lrsvkaeigq aieevnsnnq ellrkyrrel qlrkkchnel
      301 vrlkgnirvi arvrpvtked gegpeatnav tfdadddsii hllhkgkpvs feldkvfspq
      361 asqqdvfqev qalvtscidg fnvcifaygq tgagktytme gtaenpginq ralqllfsev
      421 qekasdweyt itvsaaeiyn evlrdllgke pqekleirlc pdgsgqlyvp gltefqvqsv
      481 ddinkvfefg htnrtteftn lnehssrsha llivtvrgvd cstglrttgk lnlvdlagse
      541 rvgksgaegs rlreaqhink slsalgdvia alrsrqghvp frnskltyll qdslsgdskt
      601 lmvvqvspve kntsetlysl kfaervrsve lgpglrrael gswssqehle wepacqtpqp
      661 sarahsapss gtssrpgsir rklqpsgksr plpv
//
LOCUS       XP_054171088             404 aa            linear   PRI 20-MAR-2023
DEFINITION  TOM1-like protein 2 isoform X8 [Homo sapiens].
ACCESSION   XP_054171088
VERSION     XP_054171088.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315113.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..404
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..404
                     /product="TOM1-like protein 2 isoform X8"
                     /calculated_mol_wt=44482
     CDS             1..404
                     /gene="TOM1L2"
                     /coded_by="XM_054315113.1:88..1302"
                     /db_xref="GeneID:146691"
                     /db_xref="HGNC:HGNC:11984"
                     /db_xref="MIM:615519"
ORIGIN      
        1 mefllgnpfs tpvgqcleka tdgslqsedw tlnmeicdii neteegpkda iralkkrlng
       61 nrnyrevmla ltawadafrs spdltgvvhi yeelkrkgve fpmadldals pihtpqriar
      121 lrseldvvrg ntkvmsemlt emvpgqedss dlellqelnr tcramqqriv elisrvsnee
      181 vteellhvnd dlnnvflrye rferyrsgrs vqnasngvln evtednlidl gpgspavvsp
      241 mvgntappss lssqlagldl gtesvsgtls slqqcnprdg fdmfaqtrgn slaeqrktvt
      301 yedpqavggl asaldnrkqs segipvaqps vmddievwlr tdlkgddlee gvtseefdkf
      361 leerakaaem vpdlpsppme apapasnpsg rkkperseda lfal
//
LOCUS       XP_054176208             537 aa            linear   PRI 20-MAR-2023
DEFINITION  caspase recruitment domain-containing protein 8 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054176208
VERSION     XP_054176208.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320233.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..537
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..537
                     /product="caspase recruitment domain-containing protein 8
                     isoform X1"
                     /calculated_mol_wt=60487
     CDS             1..537
                     /gene="CARD8"
                     /gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
                     /coded_by="XM_054320233.1:819..2432"
                     /db_xref="GeneID:22900"
                     /db_xref="HGNC:HGNC:17057"
                     /db_xref="MIM:609051"
ORIGIN      
        1 mekkecpeks ssseeelprr dsgssrnida sklirlqgsr kllvdnsire lqytktgiff
       61 qaeacvtndt vyrelpcvse tlcdishffq eddeteaepl liravpecql sggdipsvse
      121 eqessegqds gdicseenqi vssyaskvcf eieedyknrq flgpegnvdv elidkstnry
      181 svwfptagwy lwsatglgfl vrdevtvtia fgswsqhlal dlqhheqwlv ggplfdvtae
      241 peeavaeihl phfislqage vdvswflvah fknegmvleh parvepfyav lespsfslmg
      301 illriasgtr lsipitsntl iyyhphpedi kfhlylvpsd alltkaidde edrfhgvrlq
      361 tsppmeplnf gssyivsnsa nlkvmpkelk lsyrspgeiq hfskfyagqm kepiqleite
      421 krhgtlvwdt evkpvdlqlv aasapppfsg aafvkenhrq lqarmgdlkg vlddlqdnev
      481 ltenekelve qektrqskne allsmvekkg dlaldvlfrs iserdpylvs ylrqqnl
//
LOCUS       XP_054176511             246 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and BTB domain-containing protein 32 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054176511
VERSION     XP_054176511.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320536.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..246
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..246
                     /product="zinc finger and BTB domain-containing protein 32
                     isoform X1"
                     /calculated_mol_wt=26367
     CDS             1..246
                     /gene="ZBTB32"
                     /gene_synonym="FAXF; FAZF; Rog; TZFP; ZNF538"
                     /coded_by="XM_054320536.1:179..919"
                     /db_xref="GeneID:27033"
                     /db_xref="HGNC:HGNC:16763"
                     /db_xref="MIM:605859"
ORIGIN      
        1 mstpttgawq evwreqripl slnapkglws qnqlassspt pgkplavlht pvtwcllwag
       61 argvqpeqgp ylplflpgsl pqgpaqlspg emeesdqght galatcaghe dkagcpprph
      121 pppapparsr pyacsvcgkr fslkhqmeth yrvhtgekpf scslcpqrsr dfsamtkhlr
      181 thgaapyrcs lcgagcpsla smqahmrghs psqlppgwti rstflysssr psrpstspcc
      241 pssstt
//
LOCUS       XP_054197634             255 aa            linear   PRI 20-MAR-2023
DEFINITION  homeobox protein Hox-D4 isoform X1 [Homo sapiens].
ACCESSION   XP_054197634
VERSION     XP_054197634.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341659.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..255
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..255
                     /product="homeobox protein Hox-D4 isoform X1"
                     /calculated_mol_wt=27754
     CDS             1..255
                     /gene="HOXD4"
                     /gene_synonym="HHO.C13; Hox-4.2; HOX-5.1; HOX4; HOX4B"
                     /coded_by="XM_054341659.1:1676..2443"
                     /db_xref="GeneID:3233"
                     /db_xref="HGNC:HGNC:5138"
                     /db_xref="MIM:142981"
ORIGIN      
        1 mvmssymvns kyvdpkfppc eeylqggylg eqgadyyggg aqgadfqppg lyprpdfgeq
       61 pfggsgpgpg salparghgq epggpgghya apgepcpapp apppaplpga raysqsdpkq
      121 ppsgtalkqp avvypwmkkv hvnsvnpnyt ggepkrsrta ytrqqvlele kefhfnrylt
      181 rrrrieiaht lclserqiki wfqnrrmkwk kdhklpntkg rsssssssss csssvapsqh
      241 lqpmakdhht dlttl
//
LOCUS       XP_054198026            1679 aa            linear   PRI 20-MAR-2023
DEFINITION  latent-transforming growth factor beta-binding protein 1 isoform X7
            [Homo sapiens].
ACCESSION   XP_054198026
VERSION     XP_054198026.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342051.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1679
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1679
                     /product="latent-transforming growth factor beta-binding
                     protein 1 isoform X7"
                     /calculated_mol_wt=182137
     CDS             1..1679
                     /gene="LTBP1"
                     /gene_synonym="ARCL2E"
                     /coded_by="XM_054342051.1:373..5412"
                     /db_xref="GeneID:4052"
                     /db_xref="HGNC:HGNC:6714"
                     /db_xref="MIM:150390"
ORIGIN      
        1 magawlrwgl llwagllass ahgrlrrity vvhpgpglaa galplsgppr srtfnvalna
       61 rysrssaaag apsraspgvp sertrrtskp ggaalqglrp ppppppepar pavpggqlhp
      121 npgghpaaap ftkqgrqvvr skvpqetqsg ggsrlqvhqk qqlqgvnvcg grcchgwska
      181 pgsqrctkps cvppcqnggm clrpqlcvck pgtkgkacet iaaqdtsspv fggqspgaas
      241 swgppeqaak htsskkadtl prvspvaqmt ltlkpkpsvg lpqqihsqvt plssqsvvih
      301 hgqtqeyvlk pkyfpaqkgi sgeqstegsf plryvqdqva apfqlsnhtg rikvvftpsi
      361 ckvtctkgsc qnscekgntt tlisenghaa dtltatnfrv vichlpcmng gqcssrdkcq
      421 cppnftgklc qipvhgasvp klyqhsqqpg kalgthvihs thtlpltvts qqgvkvkfpp
      481 nivnihvkhp peasvqihqv sridgptgqk tkeaqpgqsq vsyqglpvqk tqtihstysh
      541 qqviphvypv aaktqlgrcf qetigsqcgk alpglskqed ccgtvgtswg fnkcqkcpkk
      601 psyhgynqmm eclpgykrvn ntfcqdinec qlqgvcpnge clntmgsyrc tckigfgpdp
      661 tfsscvpdpp viseekgpcy rlvssgrqcm hplsvhltkq lcccsvgkaw gphcekcplp
      721 gtaafkeicp ggmgytvsgv hrrrpihhhv gkgpvfvkpk ntqpvaksth ppplpakeep
      781 vealtfsreh gpgvaepeva tappekeips ldqektklep gqpqlspgis tihlhpqfpv
      841 viektsppvp vevapeasts sasqviaptq vteinectvn pdicgaghci nlpvrytcic
      901 yegyrfseqq rkcvdidect qvqhlcsqgr centegsflc icpagfmase egtncidvde
      961 clrpdvcgeg hcvntvgafr ceycdsgyrm tqrgrcedid eclnpstcpd eqcvnspgsy
     1021 qcvpctegfr gwngqcldvd eclepnvcan gdcsnlegsy mcschkgytr tpdhkhcrdi
     1081 decqqgnlcv ngqckntegs frctcgqgyq lsaakdqced idecqhrhlc ahgqcrnteg
     1141 sfqcvcdqgy rasglgdhce dinecledks vcqrgdcint agsydctcpd gfqlddnktc
     1201 qdinecehpg lcgpqgecln tegsfhcvcq qgfsisadgr tcedvnecel lsgvcgeafc
     1261 envegsflcv cadenqeysp mtgqcrsrts tdldvdvdqp keekkecyyn lndaslcdnv
     1321 lapnvtkqec cctsgagwgd nceifpcpvl gtaeftemcp kgkgfvpage ssseaggeny
     1381 kdadecllfg qeickngfcl ntrpgyecyc kqgtyydpvk lqcfdmdecq dpsscidgqc
     1441 vntegsyncf cthpmvldas ekrcirpaes neqieetdvy qdlcwehlsd eyvcsrplvg
     1501 kqttyteccc lygeawgmqc alcplkdsdd yaqlcnipvt grrqpygrda lvdfseqytp
     1561 eadpyfiqdr flnsfeelqa eecgilngce ngrcvrvqeg ytcdcfdgyh ldtakmtcvd
     1621 vnecdelnnr mslcknakci ntdgsykclc lpgyvpsdkp nyctplntal nlekdsdle
//
LOCUS       XP_054180129             368 aa            linear   PRI 20-MAR-2023
DEFINITION  mRNA export factor RAE1 isoform X1 [Homo sapiens].
ACCESSION   XP_054180129
VERSION     XP_054180129.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324154.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..368
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..368
                     /product="mRNA export factor RAE1 isoform X1"
                     /calculated_mol_wt=40837
     CDS             1..368
                     /gene="RAE1"
                     /gene_synonym="dJ481F12.3; dJ800J21.1; Gle2; MIG14;
                     Mnrp41; MRNP41"
                     /coded_by="XM_054324154.1:1086..2192"
                     /db_xref="GeneID:8480"
                     /db_xref="HGNC:HGNC:9828"
                     /db_xref="MIM:603343"
ORIGIN      
        1 mslfgttsgf gtsgtsmfgs attdnhnpmk dievtsspdd sigclsfspp tlpgnfliag
       61 swandvrcwe vqdsgqtipk aqqmhtgpvl dvcwsddgsk vftascdkta kmwdlssnqa
      121 iqiaqhdapv ktihwikapn yscvmtgswd ktlkfwdtrs snpmmvlqlp ercycadviy
      181 pmavvataer glivyqlenq psefrriesp lkhqhrcvai fkdkqnkptg falgsiegrv
      241 aihyinppnp akdnftfkch rsngtntsap qdiyavngia fhpvhgtlat vgsdgrfsfw
      301 dkdartklkt seqldqpisa ccfnhngnif ayassydwsk ghefynpqkk nyiflrnaae
      361 elkprnkk
//
LOCUS       XP_054205093             533 aa            linear   PRI 20-MAR-2023
DEFINITION  probable RNA-binding protein 46 isoform X1 [Homo sapiens].
ACCESSION   XP_054205093
VERSION     XP_054205093.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349118.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..533
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..533
                     /product="probable RNA-binding protein 46 isoform X1"
                     /calculated_mol_wt=59892
     CDS             1..533
                     /gene="RBM46"
                     /gene_synonym="CT68"
                     /coded_by="XM_054349118.1:180..1781"
                     /db_xref="GeneID:166863"
                     /db_xref="HGNC:HGNC:28401"
                     /db_xref="MIM:620147"
ORIGIN      
        1 mneenidgtn gcskvrtgiq neaallalme ktgynmvqen gqrkfggppp gwegpppprg
       61 cevfvgkipr dmyedelvpv feragkiyef rlmmefsgen rgyafvmytt keeaqlairi
      121 lnnyeirpgk figvcvsldn crlfigaipk ekkkeeilde mkkvtegvvd vivypsatdk
      181 tknrgfafve yeshraaama rrklipgtfq lwghtiqvdw adpekevdee tmqrvkvlyv
      241 rnlmisttee tikaefnkfk pgavervkkl rdyafvhffn redavaamsv mngkcidgas
      301 ievtlakpvn kentwrqhln gqispnsenl ivfankeesh pktlgklptl parlngqhsp
      361 sppevercty pfypgtkltp ismyslksnh fnsavmhldy ycnknnwapp eyylysttsq
      421 dgkvllvyki vipaiangsq syfmpdklct tledakelaa qftllhldyn fhrssinsls
      481 pvsatlssgt psvlpytsrp ysypgyplsp tislangshv gqrlcisnqa sff
//
LOCUS       XP_054210704            1650 aa            linear   PRI 20-MAR-2023
DEFINITION  regulating synaptic membrane exocytosis protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054210704
VERSION     XP_054210704.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354729.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 7% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1650
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1650
                     /product="regulating synaptic membrane exocytosis protein
                     1 isoform X1"
                     /calculated_mol_wt=184152
     CDS             1..1650
                     /gene="RIMS1"
                     /gene_synonym="CORD7; RAB3IP2; RIM; RIM1"
                     /coded_by="XM_054354729.1:475..5427"
                     /db_xref="GeneID:22999"
                     /db_xref="HGNC:HGNC:17282"
                     /db_xref="MIM:606629"
ORIGIN      
        1 mssavgprgp rpptvpppmq elpdlshlte eerniimavm drqkeeeeke eamlkcvvrd
       61 makpaacktp rnaenqphqp sprlhqqfes ykeqvrkige earryqgehk ddaptcgich
      121 ktkfadgcgh lcsycrtkfc arcggrvslr snnedkvvmw vcnlcrkqqe iltksgawff
      181 gsgpqqtsqd gtlsdtatga gsevprekka rlqersrsqt plstaaassq daappsappd
      241 rskgaepsqq algpeqkqas srsrseppre rkktpglseq ngkgalkser krvpktsaqp
      301 vegaveerer kerresrrle kgrsqdypdt pekrdegkaa deekqrkeed yqtryrsdpn
      361 larypvkppp eeqqmrmhar vsrarherrh sdvalprtea gaalpegkag krapaaaras
      421 ppdspraysa ertaetrapg akqltnhspp aprhgpvpae apelkaqepl rkqsrldpss
      481 avlmrkakre kvetmlrnds lssdqsesvr psppkphrsk rggkkrqmsv ssseeegvst
      541 peytscedve lesesvsekg dldyywldpa twhsretspi sshpvtwqps kegdrligrv
      601 ilnkrttmpk dsgallglkv vggkmtdlgr lgafitkvkk gsladvvghl ragdevlewn
      661 gkplpgatne evyniilesk sepqveiivs rpigdiprip esshppless sssfesqkme
      721 rpsisvispt spgalkdapq vlpgqlsvkl wydkvghqli vnvlqatdlp arvdgrprnp
      781 yvkmyflpdr sdkskrrtkt vkkilepkwn qtfvyshvhr rdfrermlei tvwdqprvqe
      841 eeseflgeil ieletalldd ephwyklqth desslplpqp spfmprrhih gessskklqr
      901 sqrisdsdis dyevddgigv vppgyrssar esksttltvp eqqrtthhrs rsvsphrgnd
      961 qgkprsrlpn vplqrsldei hptrrsrspt rhhdasrspv dhrtrdvdsq ylseqdsell
     1021 mlprakrgrs aeclhttsel qpfldrarsa stnclrpdts lhspererhs rkserssiqk
     1081 qtrkgtasda ervlptclsr rghaapratd qpvirgkhpa rsrssehssi rtlcsmhhlv
     1141 pggsappspl ltrmhrqrsp tqsppadtsf ssrrgrqlpq vpvrsgsieq eqekynsstk
     1201 girtqvqrdy dicpnclsvv dykprsfyfr pfplhvgvsy ftslvveert rqmkmkvhrf
     1261 kqttgsgssq eldreqysky nihkdqyrsc dnvsakssds dvsdvsaisr tssasrlsst
     1321 sfmseqserp rgrissftpk mqgrrmgtsg rsimkstsvs gemytlehnd gsqsdtavgt
     1381 vgaggkkrrs slsakvvaiv srrsrstsql sqtesghkkl kstiqrstet gmaaemrkmv
     1441 rqpsrestdg sinsyssegn lifpgvrlga dsqfsdfldg lgpaqlvgrq tlatpamgdi
     1501 qigmedkkgq levevirars ltqkpgskst papyvkvyll engaciakkk triarktldp
     1561 lyqqslvfde spqgkvlqvi vwgdygrmdh kcfmgvaqil leeldlssmv igwyklfpps
     1621 slvdptltpl trrasqssle sstgppcirs
//
LOCUS       XP_054212073             501 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 181 isoform X3 [Homo sapiens].
ACCESSION   XP_054212073
VERSION     XP_054212073.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356098.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..501
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..501
                     /product="transmembrane protein 181 isoform X3"
                     /calculated_mol_wt=58141
     CDS             1..501
                     /gene="TMEM181"
                     /gene_synonym="GPR178; KIAA1423"
                     /coded_by="XM_054356098.1:541..2046"
                     /db_xref="GeneID:57583"
                     /db_xref="HGNC:HGNC:20958"
                     /db_xref="MIM:613209"
ORIGIN      
        1 mrgqqrtqkr eqnrqrrtsl wlapmrlytl skrhfvlvfv vfficfglti fvgirgpkvi
       61 qtsaanfsln nskklkpiqi lsnplstynq qlwltcvvel dqsketsikt sfpmtvkvdg
      121 vaqdgttmyi hnkvhnrtrt ltcaganlsv ylqkcaeiiv ahlgylnytq ytvivgfehl
      181 klpikgmnft wktynpafsr leiwfrfffv vltfivtclf ahslrkfsmr dwgieqkwms
      241 vllpllllyn dpffplsflv nswlpgmldd lfqsmflcal llfwlcvyhg irvqgerkcl
      301 tfylpkffiv gllwlasvtl giwqtvnelh dpmyqyrvdt gnfqgmkvff mvvaavyily
      361 llflivracs elrhmpyvdl rlkfltaltf vvlvisiail ylrfgaqvlq dnfvaelsth
      421 yqnsaeflsf ygllnfylyt lafvyspskn alyesqlkdn pafsmlndsd ddviygsdye
      481 emplqngqai rakykeesds d
//
LOCUS       XP_047300942             692 aa            linear   PRI 20-MAR-2023
DEFINITION  ras GTPase-activating protein 4 isoform X11 [Homo sapiens].
ACCESSION   XP_047300942
VERSION     XP_047300942.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047444986.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..692
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..692
                     /product="ras GTPase-activating protein 4 isoform X11"
                     /calculated_mol_wt=76566
     Region          6..126
                     /region_name="C2A_Rasal1_RasA4"
                     /note="C2 domain first repeat present in RasA1 and RasA4;
                     cd04054"
                     /db_xref="CDD:176018"
     Site            order(21,27,74,76,82)
                     /site_type="other"
                     /note="Ca2+ binding pocket [ion binding]"
                     /db_xref="CDD:176018"
     Region          134..257
                     /region_name="C2B_RasA1_RasA4"
                     /note="C2 domain second repeat present in RasA1 and RasA4;
                     cd04025"
                     /db_xref="CDD:175991"
     Site            order(149,155,202,204,210)
                     /site_type="other"
                     /note="Ca2+ binding pocket [ion binding]"
                     /db_xref="CDD:175991"
     Region          265..>459
                     /region_name="RasGAP"
                     /note="Ras GTPase Activating Domain; cl02569"
                     /db_xref="CDD:445837"
     CDS             1..692
                     /gene="RASA4"
                     /gene_synonym="CAPRI; GAPL"
                     /coded_by="XM_047444986.1:69..2147"
                     /db_xref="GeneID:10156"
                     /db_xref="HGNC:HGNC:23181"
                     /db_xref="MIM:607943"
ORIGIN      
        1 makrsslyir ivegknlpak ditgssdpyc ivkvdnepii rtatvwktlc pfwgeeyqvh
       61 lpptfhavaf yvmdedalsr ddvigkvclt rdtiashpkg fsgwahltev dpdeevqgei
      121 hlrlevwpga racrlrcsvl eardlapkdr ngtsdpfvrv rykgrtrets ivkkscyprw
      181 netfefelqe gamealcvea wdwdlvsrnd flgkvvidvq rlrvvqqeeg wfrlqpdqsk
      241 srrhdegnlg slqlevrlrd etvlpssyyq plvhllchev klgmqgpgql iplieettst
      301 ecrqdvatnl lklflgqgla kdfldllfql elsrtsetnt lfrsnslask svesflkvag
      361 mqylhgvlgp iinkvfeekk yveldpskve vkdvgcsglh rpqteaevle qsaqtlrahl
      421 gallsalsrs vracpavvra tfrqlfrrvr erfpgaqhev rpppaglgwa gldwagarge
      481 erwgtrerwg gpgrlcpseg qgrslrgggc qepwsgglqp alfrtppect vhrrhqlpvp
      541 alllsrhhva qalppagapr grphqphpap vgqgspergq hghagfqgqg gldgaaaahr
      601 apgrgaaegl hhqarghrge gragpaadae fagatcegga tlhpqdqgqg pphvlllqea
      661 lllphyrgpq lredaqlqgv pfcvrvqshw ek
//
LOCUS       XP_054214780             235 aa            linear   PRI 20-MAR-2023
DEFINITION  motile sperm domain-containing protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054214780
VERSION     XP_054214780.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358805.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..235
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..235
                     /product="motile sperm domain-containing protein 3 isoform
                     X1"
                     /calculated_mol_wt=25388
     CDS             1..235
                     /gene="MOSPD3"
                     /gene_synonym="CDS3; NET30"
                     /coded_by="XM_054358805.1:99..806"
                     /db_xref="GeneID:64598"
                     /db_xref="HGNC:HGNC:25078"
                     /db_xref="MIM:609125"
ORIGIN      
        1 mrrgapqdqe lvgpgppgrg srgappplgp vvpvlvfppd lvfradqrsg prqlltlynp
       61 tgtalrfrvl ctapakytvf daegyvkpqs cidivirhva pipshydvqd rfrielseeg
      121 aegrvvgrkd itsilrapay plelqgqpdp aprpgppagt ppptarhfqe hprqqlatss
      181 fllflltgiv svaflllplp delgsqlpqv lhvslgqklv aayvlglltm vflrt
//
LOCUS       NP_001278872              97 aa            linear   PRI 28-MAR-2023
DEFINITION  uncharacterized protein C3orf14 isoform b [Homo sapiens].
ACCESSION   NP_001278872
VERSION     NP_001278872.1
DBSOURCE    REFSEQ: accession NM_001291943.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 97)
  AUTHORS   Etcheverry A, Aubry M, de Tayrac M, Vauleon E, Boniface R, Guenot
            F, Saikali S, Hamlat A, Riffaud L, Menei P, Quillien V and Mosser
            J.
  TITLE     DNA methylation in glioblastoma: impact on gene expression and
            clinical outcome
  JOURNAL   BMC Genomics 11, 701 (2010)
   PUBMED   21156036
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 97)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA615061.1.
            
            Transcript Variant: This variant (4) differs in the 5' UTR, the 3'
            UTR, and the 3' coding sequence compared to variant 1. The
            resulting isoform (b) has a shorter and distinct C-terminus
            compared to isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA615061.1, SRR14038192.3188590.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..97
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.2"
     Protein         1..97
                     /product="uncharacterized protein C3orf14 isoform b"
                     /note="uncharacterized protein C3orf14"
                     /calculated_mol_wt=11126
     Region          1..>59
                     /region_name="DUF4570"
                     /note="Domain of unknown function (DUF4570); pfam15134"
                     /db_xref="CDD:434487"
     CDS             1..97
                     /gene="CEP15"
                     /gene_synonym="C3orf14; HT021"
                     /coded_by="NM_001291943.2:159..452"
                     /note="isoform b is encoded by transcript variant 4"
                     /db_xref="GeneID:57415"
                     /db_xref="HGNC:HGNC:25024"
ORIGIN      
        1 mtslfaqeir lskrheeivs qrlmllqqme nklgdqhtek asqlqtveta fkrnlsllky
       61 fnkhllsiyy itntvlaard aasslflhsl shcicnf
//
LOCUS       NP_001116867             211 aa            linear   PRI 18-DEC-2022
DEFINITION  claudin-19 isoform b [Homo sapiens].
ACCESSION   NP_001116867
VERSION     NP_001116867.1
DBSOURCE    REFSEQ: accession NM_001123395.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 211)
  AUTHORS   Vall-Palomar M, Burballa C, Claverie-Martin F, Meseguer A and
            Ariceta G.
  TITLE     Heterogeneity is a common ground in familial hypomagnesemia with
            hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations
  JOURNAL   J Nephrol 34 (6), 2053-2062 (2021)
   PUBMED   33929692
  REMARK    GeneRIF: Heterogeneity is a common ground in familial
            hypomagnesemia with hypercalciuria and nephrocalcinosis caused by
            CLDN19 gene mutations.
REFERENCE   2  (residues 1 to 211)
  AUTHORS   Liu F, Peng S, Adelman RA and Rizzolo LJ.
  TITLE     Knockdown of Claudin-19 in the Retinal Pigment Epithelium Is
            Accompanied by Slowed Phagocytosis and Increased Expression of
            SQSTM1
  JOURNAL   Invest Ophthalmol Vis Sci 62 (2), 14 (2021)
   PUBMED   33591357
  REMARK    GeneRIF: Knockdown of Claudin-19 in the Retinal Pigment Epithelium
            Is Accompanied by Slowed Phagocytosis and Increased Expression of
            SQSTM1.
REFERENCE   3  (residues 1 to 211)
  AUTHORS   Wang SB, Xu T, Peng S, Singh D, Ghiassi-Nejad M, Adelman RA and
            Rizzolo LJ.
  TITLE     Disease-associated mutations of claudin-19 disrupt retinal
            neurogenesis and visual function
  JOURNAL   Commun Biol 2, 113 (2019)
   PUBMED   30937396
  REMARK    GeneRIF: Mutated claudin-19 affects multiple stages of RPE and
            retinal differentiation through its effects on multiple functions
            of the RPE.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 211)
  AUTHORS   Perdomo-Ramirez A, Aguirre M, Davitaia T, Ariceta G, Ramos-Trujillo
            E and Claverie-Martin F.
  CONSRTM   RenalTube Group
  TITLE     Characterization of two novel mutations in the claudin-16 and
            claudin-19 genes that cause familial hypomagnesemia with
            hypercalciuria and nephrocalcinosis
  JOURNAL   Gene 689, 227-234 (2019)
   PUBMED   30576809
  REMARK    GeneRIF: Results show that CLDN16 mutation c.602G>A had no effect
            on pre-mRNA splicing in familial hypomagnesemia with hypercalciuria
            and nephrocalcinosis. This study expands the genotypic
            classification of this rare disease and provides the first report
            of a CLDN19 mutation affecting splicing.
REFERENCE   5  (residues 1 to 211)
  AUTHORS   Arcidiacono T, Simonini M, Lanzani C, Citterio L, Salvi E,
            Barlassina C, Spotti D, Cusi D, Manunta P and Vezzoli G.
  TITLE     Claudin-14 Gene Polymorphisms and Urine Calcium Excretion
  JOURNAL   Clin J Am Soc Nephrol 13 (10), 1542-1549 (2018)
   PUBMED   30232134
  REMARK    GeneRIF: No significant associations were found among claudin-16
            and claudin-19 single-nucleotide polymorphisms and calcium
            excretion and between claudin-14, claudin-16, and claudin-19
            single-nucleotide polymorphisms and stones.
REFERENCE   6  (residues 1 to 211)
  AUTHORS   Gonzalez-Mariscal L, Betanzos A, Nava P and Jaramillo BE.
  TITLE     Tight junction proteins
  JOURNAL   Prog Biophys Mol Biol 81 (1), 1-44 (2003)
   PUBMED   12475568
  REMARK    Review article
REFERENCE   7  (residues 1 to 211)
  AUTHORS   Tsukita S and Furuse M.
  TITLE     Claudin-based barrier in simple and stratified cellular sheets
  JOURNAL   Curr Opin Cell Biol 14 (5), 531-536 (2002)
   PUBMED   12231346
  REMARK    Review article
REFERENCE   8  (residues 1 to 211)
  AUTHORS   Tsukita S, Furuse M and Itoh M.
  TITLE     Multifunctional strands in tight junctions
  JOURNAL   Nat Rev Mol Cell Biol 2 (4), 285-293 (2001)
   PUBMED   11283726
  REMARK    Review article
REFERENCE   9  (residues 1 to 211)
  AUTHORS   Heiskala M, Peterson PA and Yang Y.
  TITLE     The roles of claudin superfamily proteins in paracellular transport
  JOURNAL   Traffic 2 (2), 93-98 (2001)
   PUBMED   11247307
  REMARK    Review article
REFERENCE   10 (residues 1 to 211)
  AUTHORS   Kniesel U and Wolburg H.
  TITLE     Tight junctions of the blood-brain barrier
  JOURNAL   Cell Mol Neurobiol 20 (1), 57-76 (2000)
   PUBMED   10690502
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK096063.1, BC030524.1,
            AC098484.2 and BM681600.1.
            
            Summary: The product of this gene belongs to the claudin family. It
            plays a major role in tight junction-specific obliteration of the
            intercellular space, through calcium-independent cell-adhesion
            activity. Defects in this gene are the cause of hypomagnesemia
            renal with ocular involvement (HOMGO). HOMGO is a progressive renal
            disease characterized by primary renal magnesium wasting with
            hypomagnesemia, hypercalciuria and nephrocalcinosis associated with
            severe ocular abnormalities such as bilateral chorioretinal scars,
            macular colobomata, significant myopia and nystagmus. Alternatively
            spliced transcript variants encoding distinct isoforms have been
            identified for this gene. [provided by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (2) contains an additional segment
            in the coding region compared to variant 1. The resulting isoform
            (b) contains a shorter and distinct C-terminus compared to isoform
            a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC030524.1, AK291197.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..211
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..211
                     /product="claudin-19 isoform b"
                     /calculated_mol_wt=21946
     Region          4..182
                     /region_name="PMP22_Claudin"
                     /note="PMP-22/EMP/MP20/Claudin family; cl21598"
                     /db_xref="CDD:451326"
     Site            8..28
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6F1.2)"
     Site            82..102
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6F1.2)"
     Site            118..138
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6F1.2)"
     Site            161..181
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6F1.2)"
     CDS             1..211
                     /gene="CLDN19"
                     /gene_synonym="HOMG5"
                     /coded_by="NM_001123395.2:174..809"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS44125.1"
                     /db_xref="GeneID:149461"
                     /db_xref="HGNC:HGNC:2040"
                     /db_xref="MIM:610036"
ORIGIN      
        1 mansglqllg yflalggwvg iiastalpqw kqssyagdai itavglyegl wmscasqstg
       61 qvqcklydsl laldghiqsa ralmvvavll gfvamvlsvv gmkctrvgds npiakgrvai
      121 aggalfilag lctltavswy atlvtqeffn pstpvnarye fgpalfvgwa saglavlggs
      181 flcctcpepe rpnsspqpyr pgpsaaarey v
//
LOCUS       NP_001316563             603 aa            linear   PRI 23-DEC-2022
DEFINITION  F-box only protein 46 [Homo sapiens].
ACCESSION   NP_001316563
VERSION     NP_001316563.1
DBSOURCE    REFSEQ: accession NM_001329634.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 603)
  AUTHORS   Choppara S, Ganga S, Manne R, Dutta P, Singh S and Santra MK.
  TITLE     The SCFFBXO46 ubiquitin ligase complex mediates degradation of the
            tumor suppressor FBXO31 and thereby prevents premature cellular
            senescence
  JOURNAL   J Biol Chem 293 (42), 16291-16306 (2018)
   PUBMED   30171069
  REMARK    GeneRIF: reveal that FBXO46 is a crucial proteasomal regulator of
            FBXO31 and thereby prevents senescence in normal growth conditions
REFERENCE   2  (residues 1 to 603)
  AUTHORS   Hauri S, Comoglio F, Seimiya M, Gerstung M, Glatter T, Hansen K,
            Aebersold R, Paro R, Gstaiger M and Beisel C.
  TITLE     A High-Density Map for Navigating the Human Polycomb Complexome
  JOURNAL   Cell Rep 17 (2), 583-595 (2016)
   PUBMED   27705803
REFERENCE   3  (residues 1 to 603)
  AUTHORS   Jin,J., Cardozo,T., Lovering,R.C., Elledge,S.J., Pagano,M. and
            Harper,J.W.
  TITLE     Systematic analysis and nomenclature of mammalian F-box proteins
  JOURNAL   Genes Dev 18 (21), 2573-2580 (2004)
   PUBMED   15520277
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007774.1 and AC007191.1.
            
            Summary: Members of the F-box protein family, such as FBXO46, are
            characterized by an approximately 40-amino acid F-box motif. SCF
            complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM
            603134), and F-box proteins, act as protein-ubiquitin ligases.
            F-box proteins interact with SKP1 through the F box, and they
            interact with ubiquitination targets through other protein
            interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied
            by OMIM, Mar 2008].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. All four variants encode the same protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BE386402.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..603
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     Protein         1..603
                     /product="F-box only protein 46"
                     /calculated_mol_wt=64500
     Region          20..63
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJ61.3)"
     Region          <110..>300
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     Region          111..163
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJ61.3)"
     Region          235..301
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJ61.3)"
     Region          326..360
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJ61.3)"
     Site            338
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6PJ61.3)"
     Site            347
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6PJ61.3)"
     Region          396..440
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJ61.3)"
     Region          473..519
                     /region_name="F-box_FBXO46"
                     /note="F-box domain found in F-box only protein 46
                     (FBXO46) and similar proteins; cd22177"
                     /db_xref="CDD:438948"
     Site            order(476,480,483..484,487..488,492,494..495,499..501,503)
                     /site_type="other"
                     /note="putative Skp1 binding site [polypeptide binding]"
                     /db_xref="CDD:438948"
     CDS             1..603
                     /gene="FBXO46"
                     /gene_synonym="20D7-FC4; Fbx46; FBXO34L"
                     /coded_by="NM_001329634.1:103..1914"
                     /db_xref="CCDS:CCDS46116.1"
                     /db_xref="GeneID:23403"
                     /db_xref="HGNC:HGNC:25069"
                     /db_xref="MIM:609117"
ORIGIN      
        1 mdrgsllpfq lwcprpfgty sqnqprppsa alkpsacpep gggaepdhgp ahsentppal
       61 atevpasqpa pllsaaaagd egrvlldtwy vikpgntkek vaffvahqcg ggsrassmkv
      121 kghwgsdssk akrrrrcldp tkappdpggr egppaaeegp asagedvdll svaemvalve
      181 qraalalqsy prpttpapvv fvsaeqggpa kgvgserrsg ggdcsrvaea vahfeaqrds
      241 pptkglrkee rpgpgpgevr iafrisngre prapdsglps ggggrpgcay pgspgpgara
      301 kdkitcdlyq lispsrdalp snvefllara deasegdspa parpedtppa pppppardcg
      361 asgfhvdvvv tgvvdeciff gkdgtknvke etvcltvspe eppppgqlff lqnrgpdgpp
      421 epppadspat apgpddaegt adtslcrlyr hvshdfleir fkiqrllepr qymlllpehv
      481 lvkifsflpt ralaalkctc hhfkgiieaf gvratdsrws rdplyrddpc kqcrkryekg
      541 dvslcrwhpk pyhhdlpygr sywmccrrad retpgcrlgl hdnnwvlpcn gpgggragre
      601 egr
//
LOCUS       NP_001271181             295 aa            linear   PRI 26-DEC-2022
DEFINITION  protein GUCD1 isoform b [Homo sapiens].
ACCESSION   NP_001271181 XP_005261813
VERSION     NP_001271181.1
DBSOURCE    REFSEQ: accession NM_001284252.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 295)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 295)
  AUTHORS   He Y and He X.
  TITLE     MicroRNA-370 Regulates Cellepithelial-Mesenchymal Transition,
            Migration, Invasion, and Prognosis of Hepatocellular Carcinoma by
            Targeting GUCD1
  JOURNAL   Yonsei Med J 60 (3), 267-276 (2019)
   PUBMED   30799589
  REMARK    GeneRIF: miR-370 suppressed Hepatocellular carcinoma cell
            metastasis and epithelial-mesenchymal transition via regulating
            GUCD1.
            Erratum:[Yonsei Med J. 2019 Apr;60(4):402. PMID: 30900430]
REFERENCE   3  (residues 1 to 295)
  AUTHORS   Navarini AA, Simpson MA, Weale M, Knight J, Carlavan I, Reiniche P,
            Burden DA, Layton A, Bataille V, Allen M, Pleass R, Pink A, Creamer
            D, English J, Munn S, Walton S, Willis C, Deret S, Voegel JJ,
            Spector T, Smith CH, Trembath RC and Barker JN.
  CONSRTM   Acne Genetic Study Group
  TITLE     Genome-wide association study identifies three novel susceptibility
            loci for severe Acne vulgaris
  JOURNAL   Nat Commun 5, 4020 (2014)
   PUBMED   24927181
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 295)
  AUTHORS   Bellet MM, Piobbico D, Bartoli D, Castelli M, Pieroni S, Brunacci
            C, Chiacchiaretta M, Del Sordo R, Fallarino F, Sidoni A, Puccetti
            P, Romani L, Servillo G and Della Fazia MA.
  TITLE     NEDD4 controls the expression of GUCD1, a protein upregulated in
            proliferating liver cells
  JOURNAL   Cell Cycle 13 (12), 1902-1911 (2014)
   PUBMED   24743017
  REMARK    GeneRIF: The expression and function of a ubiquitous protein,
            GUCD1, were characterized, it might have a role in regulating
            normal and abnormal cell growth in the liver.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK098754.1 and AK025242.1.
            On Sep 26, 2013 this sequence version replaced XP_005261813.1.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1,
            resulting in an isoform (b) that is 1 aa shorter than isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR4643916.2220.1,
                                           SRR14038193.3949687.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..295
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     Protein         1..295
                     /product="protein GUCD1 isoform b"
                     /note="CG13760 gene product [Drosophila melanogaster]
                     homolog; guanylyl cyclase domain-containing protein 1;
                     protein GUCD1"
                     /calculated_mol_wt=33345
     Region          78..291
                     /region_name="Guanylate_cyc_2"
                     /note="Guanylylate cyclase; pfam09778"
                     /db_xref="CDD:430818"
     CDS             1..295
                     /gene="GUCD1"
                     /gene_synonym="C22orf13; LLN4"
                     /coded_by="NM_001284252.2:70..957"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS63427.1"
                     /db_xref="GeneID:83606"
                     /db_xref="HGNC:HGNC:14237"
                     /db_xref="MIM:619171"
ORIGIN      
        1 mtgpggrrnd pwgrqrareg ahtskhptpr tgwtarrrrg awalrpgtag gwakgqdfps
       61 qfhllipapp gdfvqlpvpv iqqlyhwdcg lacsrmvlry lgqlddsefe ralqklqltr
      121 siwtidlayl mhhfgvrhrf ctqtlgvdkg yknqsfyrkh fdteetrvnq lfaqakackv
      181 lvekctvsvk diqahlaqgh vaivlvnsgv lhcdlcsspv kyccftpsgh hcfcrtpdyq
      241 ghfivlrgyn ratgcifynn payadrmcst sisnfeeart sygtdedilf vylds
//
LOCUS       NP_001369664             183 aa            linear   PRI 29-DEC-2022
DEFINITION  PCNA-interacting partner isoform 16 [Homo sapiens].
ACCESSION   NP_001369664
VERSION     NP_001369664.1
DBSOURCE    REFSEQ: accession NM_001382735.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 183)
  AUTHORS   Chen S, Li QH, Chen X, Bao HJ, Wu W, Shen F, Lu BF, Jiang RQ, Zong
            ZH and Zhao Y.
  TITLE     SNORA70E promotes the occurrence and development of ovarian cancer
            through pseudouridylation modification of RAP1B and alternative
            splicing of PARPBP
  JOURNAL   J Cell Mol Med 26 (20), 5150-5164 (2022)
   PUBMED   36056690
  REMARK    GeneRIF: SNORA70E promotes the occurrence and development of
            ovarian cancer through pseudouridylation modification of RAP1B and
            alternative splicing of PARPBP.
REFERENCE   2  (residues 1 to 183)
  AUTHORS   Yu B, Ding Y, Liao X, Wang C, Wang B and Chen X.
  TITLE     Overexpression of PARPBP Correlates with Tumor Progression and Poor
            Prognosis in Hepatocellular Carcinoma
  JOURNAL   Dig Dis Sci 64 (10), 2878-2892 (2019)
   PUBMED   30949905
  REMARK    GeneRIF: PARP1-binding protein was significantly upregulated in
            Hepatocellular Carcinoma tissues compared with normal liver. High
            PARPBP expression was associated with elevated serum AFP level,
            vascular invasion, poor tumor differentiation, and advanced TNM
            stage.
REFERENCE   3  (residues 1 to 183)
  AUTHORS   Xu D, Tao Z, Tang X and He JK.
  TITLE     Poly (ADP-ribose) polymerase-1 Binding Protein Facilitates Lung
            Adenocarcinoma Cell Proliferation and Correlates with Poor
            Prognosis
  JOURNAL   Ann Clin Lab Sci 49 (5), 574-580 (2019)
   PUBMED   31611199
  REMARK    GeneRIF: PARPBP expression is enhanced in lung adenocarcinoma
            tissues and is a potential factor in the progression of lung
            adenocarcinoma.
REFERENCE   4  (residues 1 to 183)
  AUTHORS   Nicolae CM, O'Connor MJ, Schleicher EM, Song C, Gowda R, Robertson
            G, Dovat S and Moldovan GL.
  TITLE     PARI (PARPBP) suppresses replication stress-induced myeloid
            differentiation in leukemia cells
  JOURNAL   Oncogene 38 (27), 5530-5540 (2019)
   PUBMED   30967629
  REMARK    GeneRIF: show that PARI expression negatively correlates with
            expression of differentiation markers in clinical myeloid leukemia
            samples, suggesting that targeting PARI may restore differentiation
            ability of leukemia cells and antagonize their proliferation
REFERENCE   5  (residues 1 to 183)
  AUTHORS   Zhang Y, Ye X, Chen L, Wu Q, Gao Y and Li Y.
  TITLE     PARI functions as a new transcriptional target of FOXM1 involved in
            gastric cancer development
  JOURNAL   Int J Biol Sci 14 (5), 531-541 (2018)
   PUBMED   29805304
  REMARK    GeneRIF: PARI plays potential oncogenic roles and functions as a
            transcriptional target and effector of FOXM1 in gastric cancer
            development
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 183)
  AUTHORS   Burkovics P, Dome L, Juhasz S, Altmannova V, Sebesta M, Pacesa M,
            Fugger K, Sorensen CS, Lee MY, Haracska L and Krejci L.
  TITLE     The PCNA-associated protein PARI negatively regulates homologous
            recombination via the inhibition of DNA repair synthesis
  JOURNAL   Nucleic Acids Res 44 (7), 3176-3189 (2016)
   PUBMED   26792895
  REMARK    GeneRIF: PARI inhibits homologous recombination in vivo, and its
            knockdown suppresses the UV sensitivity of RAD18-depleted cells
REFERENCE   7  (residues 1 to 183)
  AUTHORS   O'Connor KW, Dejsuphong D, Park E, Nicolae CM, Kimmelman AC,
            D'Andrea AD and Moldovan GL.
  TITLE     PARI overexpression promotes genomic instability and pancreatic
            tumorigenesis
  JOURNAL   Cancer Res 73 (8), 2529-2539 (2013)
   PUBMED   23436799
  REMARK    GeneRIF: PARI overexpression promotes genomic instability and
            pancreatic tumorigenesis.
REFERENCE   8  (residues 1 to 183)
  AUTHORS   Varisli L.
  TITLE     Meta-analysis of the cell cycle related C12orf48
  JOURNAL   Biocell 37 (1), 11-16 (2013)
   PUBMED   24396997
REFERENCE   9  (residues 1 to 183)
  AUTHORS   Moldovan GL, Dejsuphong D, Petalcorin MI, Hofmann K, Takeda S,
            Boulton SJ and D'Andrea AD.
  TITLE     Inhibition of homologous recombination by the PCNA-interacting
            protein PARI
  JOURNAL   Mol Cell 45 (1), 75-86 (2012)
   PUBMED   22153967
  REMARK    GeneRIF: PARI suppresses inappropriate recombination events at
            mammalian replication forks.
REFERENCE   10 (residues 1 to 183)
  AUTHORS   Piao L, Nakagawa H, Ueda K, Chung S, Kashiwaya K, Eguchi H,
            Ohigashi H, Ishikawa O, Daigo Y, Matsuda K and Nakamura Y.
  TITLE     C12orf48, termed PARP-1 binding protein, enhances poly(ADP-ribose)
            polymerase-1 (PARP-1) activity and protects pancreatic cancer cells
            from DNA damage
  JOURNAL   Genes Chromosomes Cancer 50 (1), 13-24 (2011)
   PUBMED   20931645
  REMARK    GeneRIF: Demonstrated that C12orf48 protein could directly interact
            with Poly(ADP-ribose) Polymerase-1 (PARP-1). Knockdown of C12orf48
            by siRNA in PDAC cells significantly suppressed their growth.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC079907.25 and AC087882.17.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.4025937.1,
                                           SRR18074967.3887572.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154405 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..183
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.2"
     Protein         1..183
                     /product="PCNA-interacting partner isoform 16"
                     /note="PCNA-interacting partner"
                     /calculated_mol_wt=20594
     CDS             1..183
                     /gene="PARPBP"
                     /gene_synonym="AROM; C12orf48; PARI"
                     /coded_by="NM_001382735.1:108..659"
                     /note="isoform 16 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS91743.1"
                     /db_xref="GeneID:55010"
                     /db_xref="HGNC:HGNC:26074"
                     /db_xref="MIM:613687"
ORIGIN      
        1 mavfnqksvs dmikefrknw ralcnsertt lcgadsmlla lqlsmaennk qvqllarkii
       61 fsylnllvns kndlavayil nipdrglgre aftdlkhaar ekqmsiflva tsfirtielg
      121 gkgyapppsd plrthvkgls nfinfidkld eilgeipnpr gcksicwkin nwnefwkcss
      181 gqk
//
LOCUS       NP_061939               1249 aa            linear   PRI 12-MAR-2023
DEFINITION  MAGE-like protein 2 [Homo sapiens].
ACCESSION   NP_061939
VERSION     NP_061939.3
DBSOURCE    REFSEQ: accession NM_019066.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1249)
  AUTHORS   Reznik DL, Yang MV, Albelda de la Haza P, Jain A, Spanjaard M,
            Theiss S, Schaaf CP, Malovannaya A, Strong TV, Veeraragavan S and
            Samaco RC.
  TITLE     Magel2 truncation alters select behavioral and physiological
            outcomes in a rat model of Schaaf-Yang syndrome
  JOURNAL   Dis Model Mech 16 (2) (2023)
   PUBMED   36637363
  REMARK    GeneRIF: Magel2 truncation alters select behavioral and
            physiological outcomes in a rat model of Schaaf-Yang syndrome.
REFERENCE   2  (residues 1 to 1249)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (residues 1 to 1249)
  AUTHORS   Chen H, Victor AK, Klein J, Tacer KF, Tai DJ, de Esch C, Nuttle A,
            Temirov J, Burnett LC, Rosenbaum M, Zhang Y, Ding L, Moresco JJ,
            Diedrich JK, Yates JR 3rd, Tillman HS, Leibel RL, Talkowski ME,
            Billadeau DD, Reiter LT and Potts PR.
  TITLE     Loss of MAGEL2 in Prader-Willi syndrome leads to decreased
            secretory granule and neuropeptide production
  JOURNAL   JCI Insight 5 (17), 138576 (2020)
   PUBMED   32879135
  REMARK    GeneRIF: Loss of MAGEL2 in Prader-Willi syndrome leads to decreased
            secretory granule and neuropeptide production.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1249)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 1249)
  AUTHORS   Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B,
            Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT and Yang
            Y.
  TITLE     Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and
            autism
  JOURNAL   Nat Genet 45 (11), 1405-1408 (2013)
   PUBMED   24076603
  REMARK    GeneRIF: MAGEL2 is a new gene causing complex autism spectrum
            disorder and MAGEL2 loss of function can contribute to several
            aspects of the Prader-Willi syndrome phenotype.
REFERENCE   6  (residues 1 to 1249)
  AUTHORS   Hao YH, Doyle JM, Ramanathan S, Gomez TS, Jia D, Xu M, Chen ZJ,
            Billadeau DD, Rosen MK and Potts PR.
  TITLE     Regulation of WASH-dependent actin polymerization and protein
            trafficking by ubiquitination
  JOURNAL   Cell 152 (5), 1051-1064 (2013)
   PUBMED   23452853
  REMARK    GeneRIF: These findings provide a cellular and molecular function
            for MAGE-L2-TRIM27 in retrograde transport, including an
            unappreciated role of K63-linked ubiquitination and identification
            of an activating signal of the WASH regulatory complex.
REFERENCE   7  (residues 1 to 1249)
  AUTHORS   Fukuo Y, Kishi T, Okochi T, Kitajima T, Tsunoka T, Okumukura T,
            Kinoshita Y, Kawashima K, Yamanouchi Y, Umene-Nakano W, Naitoh H,
            Inada T, Yoshimura R, Nakamura J, Ozaki N and Iwata N.
  TITLE     Lack of association between MAGEL2 and schizophrenia and mood
            disorders in the Japanese population
  JOURNAL   Neuromolecular Med 12 (3), 285-291 (2010)
   PUBMED   20467835
  REMARK    GeneRIF: Results suggest that MAGEL2 may not play a role in the
            pathophysiology of schizophrenia and mood disorders in the Japanese
            population.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 1249)
  AUTHORS   Lee S, Kozlov S, Hernandez L, Chamberlain SJ, Brannan CI, Stewart
            CL and Wevrick R.
  TITLE     Expression and imprinting of MAGEL2 suggest a role in Prader-willi
            syndrome and the homologous murine imprinting phenotype
  JOURNAL   Hum Mol Genet 9 (12), 1813-1819 (2000)
   PUBMED   10915770
REFERENCE   9  (residues 1 to 1249)
  AUTHORS   Boccaccio I, Glatt-Deeley H, Watrin F, Roeckel N, Lalande M and
            Muscatelli F.
  TITLE     The human MAGEL2 gene and its mouse homologue are paternally
            expressed and mapped to the Prader-Willi region
  JOURNAL   Hum Mol Genet 8 (13), 2497-2505 (1999)
   PUBMED   10556298
  REMARK    GeneRIF: MAGEL2 gene is imprinted, with preferential expression
            from the paternal allele.
REFERENCE   10 (residues 1 to 1249)
  AUTHORS   Schaaf,C.P. and Marbach,F.
  TITLE     Schaaf-Yang Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   33570896
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124309.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 12, 2009 this sequence version replaced NP_061939.2.
            
            Summary: Prader-Willi syndrome (PWS) is caused by the loss of
            expression of imprinted genes in chromosome 15q11-q13 region.
            Affected individuals exhibit neonatal hypotonia, developmental
            delay, and childhood-onset obesity. Necdin (NDN), a gene involved
            in the terminal differentiation of neurons, localizes to this
            region of the genome and has been implicated as one of the genes
            responsible for the etiology of PWS. This gene is structurally
            similar to NDN, is also localized to the PWS chromosomal region,
            and is paternally imprinted, suggesting a possible role for it in
            PWS. [provided by RefSeq, Oct 2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 10556298, 10915770
            MANE Ensembl match     :: ENST00000650528.1/ ENSP00000497810.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1249
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.2"
     Protein         1..1249
                     /product="MAGE-like protein 2"
                     /note="protein nM15; necdin-like protein 1; melanoma
                     antigen family L2"
                     /calculated_mol_wt=132692
     Region          1..50
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJ55.2)"
     Region          <9..576
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          134..233
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJ55.2)"
     Region          300..327
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJ55.2)"
     Region          349..378
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJ55.2)"
     Region          410..433
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJ55.2)"
     Region          <434..913
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          515..569
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJ55.2)"
     Region          647..679
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJ55.2)"
     Region          714..746
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJ55.2)"
     Region          862..910
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJ55.2)"
     Region          930..957
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJ55.2)"
     Region          1027..1195
                     /region_name="MAGE"
                     /note="MAGE family; pfam01454"
                     /db_xref="CDD:426270"
     Region          1226..1249
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJ55.2)"
     CDS             1..1249
                     /gene="MAGEL2"
                     /gene_synonym="NDNL1; nM15; PWLS; SHFYNG"
                     /coded_by="NM_019066.5:126..3875"
                     /db_xref="CCDS:CCDS73700.1"
                     /db_xref="GeneID:54551"
                     /db_xref="HGNC:HGNC:6814"
                     /db_xref="MIM:605283"
ORIGIN      
        1 msqlsknlgd ssppaeapkp pvysrptvlm rappassrap pvpwdpppid lqaslaawqa
       61 pqpaweapqg qlpapvvpmt qppalggpiv papplggpmg kpptpgvlmv hppppgapma
      121 qpptpgvlmv hpsapgapma hppppgtpms hppppgtpma hppppgtpma hppppgtpmv
      181 hppppgtpma hppppgtpma hppppgtpma hppppgtpma hppppgtpma qppapgvlma
      241 qpltpgvlmv qpaapgapmv qpppaammtq pqpsgapmak ppgpgvlmih ppgarapmtq
      301 ppasgapmaq paappaqpma ppaqpmaswa pqaqplilqi qsqvirappq vpqgpqappa
      361 qlatppgwqa tspgwqatqq gwqatpltwq ttqvtwqapa vtwqvpppmr qgpppirpgp
      421 ppirpgpppv rqapplirqa ppvirqappv irqappvirq apavirqapp virqappvir
      481 qappvirqap plirqapppi rpapqvlatq pplwqalppp pplrqapqar lpapqvqaap
      541 qvptappatq vpaappagpq vpqpvlpapl saplsapqav hcpsiiwqap kgqppvphei
      601 ptsmefqevq qtqalawqaq kapthiwqpl paqeaqrqap plvqleqpfq gappsqkavq
      661 iqlppqqaqa sgpqaevptl plqpswqapp avlqaqpgpp vaaanfplgs akslmtpsge
      721 crassidrrg sskerrtssk errapskdrm ifaatfcapk avsaarahlp aawknlpatp
      781 etfapsssvf patsqfqpas lnafkgpsaa setpkslpya lqdpfacvea lpavpwvpqp
      841 nmnaskasqa vptflmataa apqatattqe asktsveppr rsgkatrkkk hleaqedsrg
      901 htlafhdwqg prpwenlnls dwevqspiqv sgdwehpntp rglsgwegps tsrilsgweg
      961 psaswalsaw egpstsralg lsespgsslp vvvsevasvs pgssatqdns kveaqplspl
     1021 deranalvqf llvkdqakvp vqrsemvkvi lreykdecld iinrannkle cafgyqlkei
     1081 dtknhayiii nklgyhtgnl vasyldrpkf gllmvvlsli fmkgncvred lifnflfklg
     1141 ldvretnglf gntkklitev fvrqkyleyr ripytepaey eflwgprafl etskmlvlrf
     1201 laklhkkdpq swpfhyleal aecewedtde depdtgdsah gptsrpppr
//
LOCUS       NP_001244292             605 aa            linear   PRI 15-MAR-2023
DEFINITION  carnitine O-acetyltransferase isoform 2 [Homo sapiens].
ACCESSION   NP_001244292
VERSION     NP_001244292.2
DBSOURCE    REFSEQ: accession NM_001257363.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 605)
  AUTHORS   Mancilla RF, Lindeboom L, Grevendonk L, Hoeks J, Koves TR, Muoio
            DM, Schrauwen P, Schrauwen-Hinderling V and Hesselink MK.
  TITLE     Skeletal muscle mitochondrial inertia is associated with carnitine
            acetyltransferase activity and physical function in humans
  JOURNAL   JCI Insight 8 (1), e163855 (2023)
   PUBMED   36413408
  REMARK    GeneRIF: Skeletal muscle mitochondrial inertia is associated with
            carnitine acetyltransferase activity and physical function in
            humans.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 605)
  AUTHORS   Laera L, Punzi G, Porcelli V, Gambacorta N, Trisolini L, Pierri CL
            and De Grassi A.
  TITLE     CRAT missense variants cause abnormal carnitine acetyltransferase
            function in an early-onset case of Leigh syndrome
  JOURNAL   Hum Mutat 41 (1), 110-114 (2020)
   PUBMED   31448845
  REMARK    GeneRIF: CRAT missense variants cause abnormal carnitine
            acetyltransferase function in an early-onset case of Leigh
            syndrome.
REFERENCE   3  (residues 1 to 605)
  AUTHORS   Valentino A, Calarco A, Di Salle A, Finicelli M, Crispi S, Calogero
            RA, Riccardo F, Sciarra A, Gentilucci A, Galderisi U, Margarucci S
            and Peluso G.
  TITLE     Deregulation of MicroRNAs mediated control of carnitine cycle in
            prostate cancer: molecular basis and pathophysiological
            consequences
  JOURNAL   Oncogene 36 (43), 6030-6040 (2017)
   PUBMED   28671672
  REMARK    GeneRIF: We provide evidence that the downregulation of
            hsa-miR-124-3p, hsa-miR-129-5p and hsa-miR-378 induced an increase
            in both expression and activity of CPT1A, CACT and CrAT in
            malignant prostate cells.
REFERENCE   4  (residues 1 to 605)
  AUTHORS   Seiler SE, Koves TR, Gooding JR, Wong KE, Stevens RD, Ilkayeva OR,
            Wittmann AH, DeBalsi KL, Davies MN, Lindeboom L, Schrauwen P,
            Schrauwen-Hinderling VB and Muoio DM.
  TITLE     Carnitine Acetyltransferase Mitigates Metabolic Inertia and Muscle
            Fatigue during Exercise
  JOURNAL   Cell Metab 22 (1), 65-76 (2015)
   PUBMED   26154055
REFERENCE   5  (residues 1 to 605)
  AUTHORS   Zammit VA, Ramsay RR, Bonomini M and Arduini A.
  TITLE     Carnitine, mitochondrial function and therapy
  JOURNAL   Adv Drug Deliv Rev 61 (14), 1353-1362 (2009)
   PUBMED   19716391
  REMARK    Review article
REFERENCE   6  (residues 1 to 605)
  AUTHORS   Corti O, DiDonato S and Finocchiaro G.
  TITLE     Divergent sequences in the 5' region of cDNA suggest alternative
            splicing as a mechanism for the generation of carnitine
            acetyltransferases with different subcellular localizations
  JOURNAL   Biochem J 303 (Pt 1) (Pt 1), 37-41 (1994)
   PUBMED   7945262
REFERENCE   7  (residues 1 to 605)
  AUTHORS   Corti O, Finocchiaro G, Rossi E, Zuffardi O and DiDonato S.
  TITLE     Molecular cloning of cDNAs encoding human carnitine
            acetyltransferase and mapping of the corresponding gene to
            chromosome 9q34.1
  JOURNAL   Genomics 23 (1), 94-99 (1994)
   PUBMED   7829107
REFERENCE   8  (residues 1 to 605)
  AUTHORS   Ramsay RR and Arduini A.
  TITLE     The carnitine acyltransferases and their role in modulating
            acyl-CoA pools
  JOURNAL   Arch Biochem Biophys 302 (2), 307-314 (1993)
   PUBMED   8489235
  REMARK    Review article
REFERENCE   9  (residues 1 to 605)
  AUTHORS   Kalaria RN and Harik SI.
  TITLE     Carnitine acetyltransferase activity in the human brain and its
            microvessels is decreased in Alzheimer's disease
  JOURNAL   Ann Neurol 32 (4), 583-586 (1992)
   PUBMED   1456745
REFERENCE   10 (residues 1 to 605)
  AUTHORS   Bloisi W, Colombo I, Garavaglia B, Giardini R, Finocchiaro G and
            Didonato S.
  TITLE     Purification and properties of carnitine acetyltransferase from
            human liver
  JOURNAL   Eur J Biochem 189 (3), 539-546 (1990)
   PUBMED   2351134
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL158151.16.
            On May 31, 2019 this sequence version replaced NP_001244292.1.
            
            Summary: This gene encodes carnitine O-acetyltransferase, a member
            of the carnitine acyltransferase family and a key metabolic pathway
            enzyme which plays an important role in energy homeostasis and fat
            metabolism. This enzyme catalyzes the reversible transfer of acyl
            groups from an acyl-CoA thioester to carnitine and regulates the
            ratio of acyl-CoA/CoA. It is found in both the mitochondria and the
            peroxisome. Alternative splicing results in transcript variants
            encoding different isoforms that may localize to different
            subcellular compartments. [provided by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (2) contains an alternate exon in
            the 5' region and initiates translation at a downstream start
            codon, compared to variant 1. The encoded isoform (2) is shorter at
            the N-terminus, compared to isoform 1. Variants 2 and 6 encode the
            same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.62967.1,
                                           SRR1803614.251364.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..605
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     Protein         1..605
                     /product="carnitine O-acetyltransferase isoform 2"
                     /EC_number="2.3.1.7"
                     /EC_number="2.3.1.137"
                     /note="carnitine acetylase"
                     /calculated_mol_wt=68438
     Region          17..588
                     /region_name="Carn_acyltransf"
                     /note="Choline/Carnitine o-acyltransferase; pfam00755"
                     /db_xref="CDD:425853"
     CDS             1..605
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /coded_by="NM_001257363.3:447..2264"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:1384"
                     /db_xref="HGNC:HGNC:2342"
                     /db_xref="MIM:600184"
ORIGIN      
        1 mkassrfkah qdalprlpvp plqqsldhyl kalqpivsee ewahtkqlvd efqasggvge
       61 rlqkglerra rktenwlsew wlktaylqyr qpvviysspg vmlpkqdfvd lqgqlrfaak
      121 liegvldfkv midnetlpve ylggkplcmn qyyqilsscr vpgpkqdtvs nfsktkkppt
      181 hitvvhnyqf feldvyhsdg tpltadqifv qlekiwnssl qtnkepvgil tsnhrnswak
      241 ayntlikdkv nrdsvrsiqk siftvcldat mprvsedvyr shvagqmlhg ggsrlnsgnr
      301 wfdktlqfiv aedgscglvy ehaaaegppi vtlldyviey tkkpelvrsp lvplpmpkkl
      361 rfnitpeiks diekakqnls imiqdlditv mvfhhfgkdf pkseklspda fiqmalqlay
      421 yriygqacat yesaslrmfh lgrtdtirsa smdsltfvka mddssvtehq kvellrkavq
      481 ahrgytdrai rgeafdrhll glklqaiedl vsmpdifmdt syaiamhfhl stsqvpaktd
      541 cvmffgpvvp dgygvcynpm eahinfslsa ynscaetnaa rlahylekal ldmrallqsh
      601 prakl
//
LOCUS       XP_016857484             471 aa            linear   PRI 20-MAR-2023
DEFINITION  kelch-like protein 12 isoform X4 [Homo sapiens].
ACCESSION   XP_016857484
VERSION     XP_016857484.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001995.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..471
                     /product="kelch-like protein 12 isoform X4"
                     /calculated_mol_wt=52771
     Region          12..135
                     /region_name="BTB_POZ_KLHL12_C3IP1_DKIR"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in Kelch-like
                     protein 12 (KLHL12); cd18242"
                     /db_xref="CDD:349551"
     Region          130..265
                     /region_name="BACK_KLHL12"
                     /note="BACK (BTB and C-terminal Kelch) domain found in
                     Kelch-like protein 12 (KLHL12); cd18452"
                     /db_xref="CDD:350527"
     Region          <269..>468
                     /region_name="PLN02193"
                     /note="nitrile-specifier protein"
                     /db_xref="CDD:177844"
     Region          274..315
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          319..365
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          330..379
                     /region_name="Kelch"
                     /note="Kelch domain; smart00612"
                     /db_xref="CDD:128874"
     Region          369..413
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          381..426
                     /region_name="Kelch"
                     /note="Kelch domain; smart00612"
                     /db_xref="CDD:128874"
     Region          416..461
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     CDS             1..471
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /coded_by="XM_017001995.3:192..1607"
                     /db_xref="GeneID:59349"
                     /db_xref="HGNC:HGNC:19360"
                     /db_xref="MIM:614522"
ORIGIN      
        1 mggimapkdi mtnthaksil nsmnslrksn tlcdvtlrve qkdfpahriv laacsdyfca
       61 mftselsekg kpyvdiqglt astmeilldf vytetvhvtv envqellpaa cllqlkgvkq
      121 acceflesql dpsnclgird faethncvdl mqaaevfsqk hfpevvqhee fillsqgeve
      181 klikcdeiqv dseepvfeav inwvkhakke reeslpnllq yvrmplltpr yitdvidaep
      241 fircslqcrd lvdeakkfhl rpelrsqmqg prtrarlgan evllvvggfg sqqspidvve
      301 kydpktqews flpsitrkrr yvasvslhdr iyviggydgr srlssvecld ytadedgvwy
      361 svapmnvrrg lagattlgdm iyvsggfdgs rrhtsmeryd pnidqwsmlg dmqtaregag
      421 lvvasgviyc lggydglnil nsvekydpht ghwtnvtpma tkrsdmmvip c
//
LOCUS       XP_005269814             700 aa            linear   PRI 20-MAR-2023
DEFINITION  BLOC-3 complex member HPS1 isoform X1 [Homo sapiens].
ACCESSION   XP_005269814
VERSION     XP_005269814.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005269757.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..700
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..700
                     /product="BLOC-3 complex member HPS1 isoform X1"
                     /calculated_mol_wt=79161
     Region          2..159
                     /region_name="Fuz_longin_1"
                     /note="First Longin domain of FUZ, MON1 and HPS1;
                     pfam19036"
                     /db_xref="CDD:408806"
     Region          204..>253
                     /region_name="Fuz_longin_2"
                     /note="Second Longin domain of FUZ, MON1 and HPS1;
                     pfam19037"
                     /db_xref="CDD:408807"
     Region          540..695
                     /region_name="Fuz_longin_3"
                     /note="Third Longin domain of FUZ, MON1 and HPS1;
                     pfam19038"
                     /db_xref="CDD:408808"
     CDS             1..700
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /coded_by="XM_005269757.5:244..2346"
                     /db_xref="GeneID:3257"
                     /db_xref="HGNC:HGNC:5163"
                     /db_xref="MIM:604982"
ORIGIN      
        1 mkcvlvateg aevlfywtdq efeeslrlkf gqseneeeel paledqlstl lapviissmt
       61 mleklsdtyt cfstengnfl yvlhlfgecl fiaingdhte segdlrrkly vlkylfevhf
      121 glvtvdghli rkelrppdla qrvqlwehfq sllwtysrlr eqeqcfavea lerlihpqlc
      181 elciealerh viqavntspe rggeealhaf llvhskllaf ysshsasslr padllalill
      241 vqdlypsest aeddiqpspr rarssqnipv qqawsphstg ptggssaete tdsfslpeey
      301 ftpapspgdq ssgstiwleg gtppmdalqi aedtlqtlvp hcpvpsgprr ifldanvkes
      361 ycplvphtmy clplwqginl vlltrspsap lalvlsqlmd gfsmlekklk egpepgaslr
      421 sqplvgdlrq rmdkfvknrg aqeiqstwle fkakafskse pgsswellqa cgklkrqlca
      481 iyrlnfltta psrggphlpq hlqdqvqrlm rekltdwkdf llvksrrnit mvsyledfpg
      541 lvhfiyvdrt tgqmvapsln csqktsselg kgplaafvkt kvwsliqlar rylqkgyttl
      601 lfqegdfycs yflwfendmg yklqmievpv lsddsvpigm lggdyyrkll ryysknrpte
      661 avrcyellal hlsviptdll vqqagqlarr lweasripll
//
LOCUS       XP_047283330            1104 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase eta isoform X2 [Homo
            sapiens].
ACCESSION   XP_047283330
VERSION     XP_047283330.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427374.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1104
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1104
                     /product="receptor-type tyrosine-protein phosphatase eta
                     isoform X2"
                     /calculated_mol_wt=117896
     Region          233..319
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(233,292,308)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(309..310,312..313)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          485..559
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Region          568..640
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Site            order(568,625,640)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(641..642,644..645)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          654..729
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Site            order(654,712,727)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(728..729,731..732)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          740..819
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Site            order(740,803,818)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          949..1079
                     /region_name="PTP_tm"
                     /note="Transmembrane domain of protein tyrosine
                     phosphatase, receptor type J; pfam18861"
                     /db_xref="CDD:436790"
     CDS             1..1104
                     /gene="PTPRJ"
                     /gene_synonym="CD148; DEP1; HPTP eta; HPTPeta; R-PTP-ETA;
                     R-PTP-J; SCC1"
                     /coded_by="XM_047427374.1:13..3327"
                     /db_xref="GeneID:5795"
                     /db_xref="HGNC:HGNC:9673"
                     /db_xref="MIM:600925"
ORIGIN      
        1 mtrgggsgss rgsrdrvaar wgwaplappr eaparsgtrp prgsrarlrr vaaaaaaaam
       61 spgkpgagga gtrrtgwrrr rrrrrqeaat tvpglgrtag pdsrvrgtfq gargmkpaar
      121 earlpprspg lrwalpllll llrlgqilca ggtpspipdp svatvatgen gitqisstae
      181 sfhkqngtgt pqvetntsed gessgandsl rtpeqgsngt dgasqktpss tgpspvfdik
      241 avsisptnvi ltwksndtaa seykyvvkhk menektitvv hqpwcnitgl rpatsyvfsi
      301 tpgignetwg dprvikvite pipvsdlrva ltgvrkaals wsngngtasc rvllesigsh
      361 eeltqdsrlq vnisglkpgv qyninpyllq snktkgdplg teggldasnt ersragspta
      421 pvhdeslvgp vdpssgqqsr dtevllvgle pgtrynatvy sqaangtegq pqaiefrtna
      481 iqvfdvtavn isatsltliw kvsdnesssn ytykihvage tdssnlnvse pravipglrs
      541 stfynitvcp vlgdiegtpg flqvhtppvp vsdfrvtvvs tteiglawss hdaesfqmhi
      601 tqegagnsrv eittnqsiii gglfpgtkyc feivpkgpng tegasrtvcn rtvpsavfdi
      661 hvvyvtttem wldwkspdga seyvyhlvie skhgsnhtst ydkaitlqgl ipgtlyniti
      721 spevdhvwgd pnstaqytrp snvsnidvst nttaatlswq nfddasptys yclliekagn
      781 ssnatqvvtd igitdatvte lipgssytve ifaqvgdgik slepgrksfc tdpasmasfd
      841 cevvpkepal vlkwtcppga nagfelevss gawnnathle scssengtey rtevtylnfs
      901 tsynisittv scgkmaaptr ntcttgitdp pppdgspnit svshnsvkvk fsgfeashgp
      961 ikayaviltt geaghpsadv lkytyedfkk gasdtyvtyl irteekgrsq slsevlkyei
     1021 dvgnesttlg yyngkleplg syracvagft nitfhpqnkg lidgaesyvs fsrysdavsl
     1081 pqdpgkmqri mkcpflklnl knls
//
LOCUS       XP_006719704             806 aa            linear   PRI 20-MAR-2023
DEFINITION  rasGAP-activating-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_006719704
VERSION     XP_006719704.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006719641.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..806
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..806
                     /product="rasGAP-activating-like protein 1 isoform X1"
                     /calculated_mol_wt=90143
     Region          6..126
                     /region_name="C2"
                     /note="C2 domain; cl14603"
                     /db_xref="CDD:449331"
     Region          134..255
                     /region_name="C2"
                     /note="C2 domain; cl14603"
                     /db_xref="CDD:449331"
     Region          263..550
                     /region_name="RasGAP_RASAL"
                     /note="Ras-GTPase Activating Domain of RASAL1 and similar
                     proteins; cd05135"
                     /db_xref="CDD:213337"
     Site            order(302,338,340,342..343,345,348,352,464,472..473,
                     476..477,480,501,504..505,508,512,514,521..522)
                     /site_type="other"
                     /note="putative RAS interface [polypeptide binding]"
                     /db_xref="CDD:213337"
     Region          554..691
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          683..711
                     /region_name="BTK"
                     /note="BTK motif; pfam00779"
                     /db_xref="CDD:425866"
     CDS             1..806
                     /gene="RASAL1"
                     /gene_synonym="RASAL"
                     /coded_by="XM_006719641.4:213..2633"
                     /db_xref="GeneID:8437"
                     /db_xref="HGNC:HGNC:9873"
                     /db_xref="MIM:604118"
ORIGIN      
        1 makssslnvr vvegralpak dvsgssdpyc lvkvddevva rtatvwrslg pfwgeeytvh
       61 lpldfhqlaf yvldedtvgh ddiigkisls reaitadprg idswinlsrv dpdaevqgei
      121 clsvqmledg qgrclrchvl qardlaprdi sgtsdpfarv fwgsqslets tikktrfphw
      181 devlelremp gapsplrvel wdwdmvgknd flgmvefspk tlqqkppkgw frllpfprae
      241 edsggnlgal rvkvrliedr vlpsqcyqpl mellmesvqg paeedtaspl alleeltlgd
      301 crqdlatklv klflgrglag rfldyltrre vartmdpntl frsnslasks meqfmklvgm
      361 pylhevlkpv isrvfeekky meldpckmdl grtrrisfkg alseeqmret slglltgylg
      421 pivdaivgsv grcppamrla fkqlhrrvee rfpqaehqqd vkylaisgfl flrffapail
      481 tpklfdlrdq hadpqtsrsl lllakavqsi gnlgqqlgqg kelwmaplhp fllqcvsrvr
      541 dfldrlvdvd gdeeagvpar alfppsaivr egyllkrkee paglatrfaf kkryvwlsge
      601 tlsfskspew qmchsipvsh iravervdeg afqlphvmqv vtqdgtgalh ttylqcknvn
      661 elnqwlsalr kasapnpnkl aachpgafrs arwtcclqae rsaagcsrth savtlgdwsd
      721 pldpdaeaqt vyrqlllgrd qlrlklleds nmdttleadt gacpevlarq raatarllev
      781 ladldrahee fqqqergkaa lgplgp
//
LOCUS       XP_047286691             717 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 7 isoform X13 [Homo
            sapiens].
ACCESSION   XP_047286691
VERSION     XP_047286691.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430735.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..717
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..717
                     /product="rho guanine nucleotide exchange factor 7 isoform
                     X13"
                     /calculated_mol_wt=81058
     Region          10..63
                     /region_name="SH3_betaPIX"
                     /note="Src Homology 3 domain of beta-Pak Interactive
                     eXchange factor; cd12061"
                     /db_xref="CDD:212994"
     Site            order(15,17,20,23..24,39,41..43,54,56,58..59)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212994"
     Region          94..271
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(100,104,198,222..223,226..227,229..230,233..234,
                     237..238,241,267,271)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          302..400
                     /region_name="PH_Cool_Pix"
                     /note="Cloned out of library/PAK-interactive exchange
                     factor pleckstrin homology (PH) domain; cd01225"
                     /db_xref="CDD:269932"
     Region          <407..490
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          460..562
                     /region_name="RhoGEF67_u2"
                     /note="Unstructured region two on RhoGEF 6 and 7;
                     pfam16614"
                     /db_xref="CDD:435464"
     Region          632..716
                     /region_name="betaPIX_CC"
                     /note="betaPIX coiled coil; pfam16523"
                     /db_xref="CDD:435396"
     CDS             1..717
                     /gene="ARHGEF7"
                     /gene_synonym="BETA-PIX; COOL-1; COOL1; Nbla10314; P50;
                     P50BP; P85; P85COOL1; P85SPR; PAK3; PIXB"
                     /coded_by="XM_047430735.1:278..2431"
                     /db_xref="GeneID:8874"
                     /db_xref="HGNC:HGNC:15607"
                     /db_xref="MIM:605477"
ORIGIN      
        1 mtdnsnnqlv vrakfnfqqt nedelsfskg dvihvtrvee ggwwegtlng rtgwfpsnyv
       61 revkasekpv spksgtlksp pkgfdttain ksyynvvlqn ileteneysk elqtvlstyl
      121 rplqtsekls sanisylmgn leeicsfqqm lvqsleectk lpeaqqrvgg cflnlmpqmk
      181 tlyltycanh psavnvlteh seelgefmet kgasspgilv lttglskpfm rldkyptllk
      241 elerhmedyh tdrqdiqksm aafknlsaqc qevrkrkele lqilteairn wegddiktlg
      301 nvtymsqvli qcagseekne rylllfpnvl lmlsasprms gfiyqgklpt tgmtitkled
      361 senhrnafei sgsmierilv scnnqqdlqe wvehlqkqtk vtsvgnptik phsvpshtlp
      421 shpvtpsskh adskpapltp ayhtlphpsh hgtphttinw gpleppktpk pwslsclrpa
      481 pplrpsaalc ykevrsldhs nsqmtdlsks pktmkkllpk rkperkpsde efasrkstaa
      541 leedaqilkv ieayctsakt rqtlnstwqg tdlmhnhvla dddqpsldsl grrsslsrle
      601 psdlsedsdy dsiwtahsyr mgstsrsrke sapqvllpee ekiiveetks ngqtvieeks
      661 lvdtvyalkd evqelrqdnk kmkksleeeq rarkdleklv rkvlknmndp awdetnl
//
LOCUS       XP_047288740             721 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Lines homolog 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047288740
VERSION     XP_047288740.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432784.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..721
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..721
                     /product="protein Lines homolog 1 isoform X2"
                     /calculated_mol_wt=81408
     Region          193..506
                     /region_name="LINES_N"
                     /note="Lines N-terminus; pfam14694"
                     /db_xref="CDD:434134"
     Region          676..711
                     /region_name="LINES_C"
                     /note="Lines C-terminus; pfam14695"
                     /db_xref="CDD:434135"
     CDS             1..721
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /coded_by="XM_047432784.1:172..2337"
                     /db_xref="GeneID:55180"
                     /db_xref="HGNC:HGNC:30922"
                     /db_xref="MIM:610350"
ORIGIN      
        1 mkvfcevlee lykkvllgat lendshdyif ylnpavsdqd cstatslewa ntcgiqgrhq
       61 pisvgvapia vapvclktns qmsgsrevml lqltvikvmt trilsvktef hakeqyrdvi
      121 killesakvd sklicmfqns dkllshmaaq clalllyfql rekitlsnsw iafcqknlse
      181 ysesnkaiyc lwtltaiike ifkdscsqkt eilkqflthf dtifevfyns lfsqhfencr
      241 dtskivnilm cfldllelli asrihlklhf tcqrilflkp scmlevitwp iqafvkrkvi
      301 iflkkcllck vgedlcrgsv palmppdhhv avdmlalana vlqavnsgll ktlsvyekhs
      361 ffggdevqpe celitspdhv ilraaslvim ksleikfqny ssasevkeqd ddmleaakas
      421 lgiyltltrg ceatesltqg kemwdhhthe ngynphcifl fflknigfds tvlldfliss
      481 etcfleyfvr ylkllqkdwd nffticnnfd ateskydisi cgcvpslvqd qssnqtiphr
      541 ltaphshrdv carhswasda pseplkavms kgahtmcass lssprasqsl vdydssddsd
      601 vesteqclan skqtslhqqa tkeiqdaagt srdkkefsle ppsrplvlke fdtafsfdce
      661 vapndvvsev gifyrivkcf qelqdaicrl qkknlfpynp tallkllkyi evisnktmnt
      721 l
//
LOCUS       XP_005255098             256 aa            linear   PRI 20-MAR-2023
DEFINITION  39S ribosomal protein L28, mitochondrial isoform X1 [Homo sapiens].
ACCESSION   XP_005255098
VERSION     XP_005255098.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005255041.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..256
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..256
                     /product="39S ribosomal protein L28, mitochondrial isoform
                     X1"
                     /calculated_mol_wt=30026
     Region          88..136
                     /region_name="Ribosomal_L28"
                     /note="Ribosomal L28 family; pfam00830"
                     /db_xref="CDD:425892"
     CDS             1..256
                     /gene="MRPL28"
                     /gene_synonym="MAAT1; p15"
                     /coded_by="XM_005255041.3:103..873"
                     /db_xref="GeneID:10573"
                     /db_xref="HGNC:HGNC:14484"
                     /db_xref="MIM:604853"
ORIGIN      
        1 mplhkypvwl wkrlqlregi csrlpghylr sleeertptp vhyrphgakf kinpkngqre
       61 rvedvpipiy fppesqrglw ggegwilgqi yanndklskr lkkvwkpqlf erefyseild
      121 kkftvtvtmr tldlideayg ldfyilktpk edlcskfgmd lkrgmllrla rqdpqlhped
      181 perraaiydk ykefaipeee aewvgltlee aiekqrllee kdpvplfkiy vaeliqqlqq
      241 qalsepavvq krasgq
//
LOCUS       XP_047289642             500 aa            linear   PRI 20-MAR-2023
DEFINITION  4-aminobutyrate aminotransferase, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_047289642
VERSION     XP_047289642.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433686.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..500
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..500
                     /product="4-aminobutyrate aminotransferase, mitochondrial
                     isoform X1"
                     /calculated_mol_wt=56308
     Region          34..496
                     /region_name="GABAtrns_euk"
                     /note="4-aminobutyrate aminotransferase, eukaryotic type;
                     TIGR00699"
                     /db_xref="CDD:129782"
     Site            order(163..165,217..218,220,293,326,328..329,357)
                     /site_type="active"
                     /note="inhibitor-cofactor binding pocket [active]"
                     /db_xref="CDD:99735"
     Site            order(164..165,217..218,293,326,329,357)
                     /site_type="other"
                     /note="pyridoxal 5'-phosphate binding site [chemical
                     binding]"
                     /db_xref="CDD:99735"
     Site            357
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:99735"
     CDS             1..500
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /coded_by="XM_047433686.1:6339..7841"
                     /db_xref="GeneID:18"
                     /db_xref="HGNC:HGNC:23"
                     /db_xref="MIM:137150"
ORIGIN      
        1 masmllaqrl acsfqhsyrl lvpgsrhisq aaakvdvefd ydgplmktev pgprsqelmk
       61 qlniiqnaea vhffcnyees rgnylvdvdg nrmldlysqi ssvpigyshp allkliqqpq
      121 nasmfvnrpa lgilppenfv eklrqsllsv apkgmsqlit macgscsnen alktifmwyr
      181 skergqrgfs qeeletcmin qapgcpdysi lsfmgafhgr tmgclatths kaihkidips
      241 fdwpiapfpr lkypleefvk enqqeearcl eevedlivky rkkkktvagi ivepiqsegg
      301 dnhasddffr klrdiarkhg caflvdevqt gggctgkfwa hehwglddpa dvmtfskkmm
      361 tggffhkeef rpnapyrifn twlgdpsknl llaeviniik redllnnaah agkalltgll
      421 dlqarypqfi srvrgrgtfc sfdtpddsir nkliliarnk gvvlggcgdk sirfrptlvf
      481 rdhhahlfln ifsdiladfk
//
LOCUS       XP_047290612             199 aa            linear   PRI 20-MAR-2023
DEFINITION  bifunctional peptidase and arginyl-hydroxylase JMJD5 isoform X4
            [Homo sapiens].
ACCESSION   XP_047290612
VERSION     XP_047290612.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434656.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..199
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..199
                     /product="bifunctional peptidase and arginyl-hydroxylase
                     JMJD5 isoform X4"
                     /calculated_mol_wt=22946
     Region          1..199
                     /region_name="Cupin_8"
                     /note="Cupin-like domain; pfam13621"
                     /db_xref="CDD:433355"
     CDS             1..199
                     /gene="KDM8"
                     /gene_synonym="JMJD5"
                     /coded_by="XM_047434656.1:230..829"
                     /db_xref="GeneID:79831"
                     /db_xref="HGNC:HGNC:25840"
                     /db_xref="MIM:611917"
ORIGIN      
        1 mqkwsleyiq eiagcrtvpv evgsrytdee wsqtlmtvne fiskyivnep rdvgylaqhq
       61 lfdqipelkq disipdycsl gdgeeeeiti nawfgpqgti splhqdpqqn flvqvmgrky
      121 irlyspqesg alyphdthll hntsqvdven pdlekfpkfa kapflscils pgeilfipvk
      181 ywhyvraldl sfsvsfwws
//
LOCUS       XP_047300089             590 aa            linear   PRI 20-MAR-2023
DEFINITION  nck-associated protein 5 isoform X8 [Homo sapiens].
ACCESSION   XP_047300089
VERSION     XP_047300089.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444133.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..590
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..590
                     /product="nck-associated protein 5 isoform X8"
                     /calculated_mol_wt=66231
     Region          2..>248
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          <365..457
                     /region_name="NCKAP5"
                     /note="Nck-associated protein 5, Peripheral clock protein;
                     pfam15246"
                     /db_xref="CDD:434568"
     CDS             1..590
                     /gene="NCKAP5"
                     /gene_synonym="ERIH1; ERIH2; NAP5"
                     /coded_by="XM_047444133.1:351..2123"
                     /db_xref="GeneID:344148"
                     /db_xref="HGNC:HGNC:29847"
                     /db_xref="MIM:608789"
ORIGIN      
        1 megkrqlekr dfgkrlslds slveymdsnk yiehlltqle eqhrslwrek lavarlqrev
       61 aqrtsegamh ekliheleee rhlrlqsekr lqevtleser nriqmrslqq qfsrmeetvr
      121 nllqsqgspe qkkeetvnim vyqeklseee rkhkealedl hmvvdedsrs essstdegke
      181 ktklllerlk aleaensala lenenqreqy ercldevanq vvqalltqkd lreecvklkt
      241 rvfdleqqnr tlsilfqqrv rptsdlllqk lhsrlldlss gdllsevern rsltqsrtda
      301 evhehqlntk salkcpglga vipghlcprn sysssselsl sstcseyssg ssytwhdgkn
      361 lrkrvkeane nlqededdav adsvfqshii esncqmrtld sgigtfplpd sgnrstgryl
      421 cqpdspedae pllplqsals avssmraqtl erevpsstdg qrpadsaivh stsdpimtar
      481 gmrplqsrlp kpassgkvss qkqneaeprp qtcssfgyae dpmasqplpd wgsevaatgt
      541 qdkaprmcty sasggsnsds dldygdngfg agrgqlvkal ksaapeiett
//
LOCUS       XP_047300565             817 aa            linear   PRI 20-MAR-2023
DEFINITION  anoctamin-7 isoform X15 [Homo sapiens].
ACCESSION   XP_047300565
VERSION     XP_047300565.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444609.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..817
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..817
                     /product="anoctamin-7 isoform X15"
                     /calculated_mol_wt=90736
     Region          69..315
                     /region_name="Anoct_dimer"
                     /note="dimerization domain of Ca+-activated
                     chloride-channel, anoctamin; pfam16178"
                     /db_xref="CDD:435192"
     Region          318..>666
                     /region_name="Anoctamin"
                     /note="Calcium-activated chloride channel; pfam04547"
                     /db_xref="CDD:428001"
     CDS             1..817
                     /gene="ANO7"
                     /gene_synonym="D-TMPP; DTMPP; IPCA-5; IPCA5; NGEP;
                     PCANAP5; PCANAP5L; TMEM16G"
                     /coded_by="XM_047444609.1:53..2506"
                     /db_xref="GeneID:50636"
                     /db_xref="HGNC:HGNC:31677"
                     /db_xref="MIM:605096"
ORIGIN      
        1 mtsetssgsh carsrmlrrr aqeedstvli dvsppeaekr gsygstahas epggqqaaac
       61 ragspakpri adfvlvweed lkldrqqdsa ardrtdmhrt wretfldnlr aaglcvdqal
      121 tepwvptagr pgrehhsalr ppqrllgcal llrrrpapea alagvtqpgl qlvgrpagma
      181 ghpqrpaggc arrtprvlll pvqseqaatl ppnllhcsha hsflgsdnqd tfftstkrhq
      241 ilfeilaktp yghekknllg ihqllaegvl saafplhdgp fktppegpqa prlnqrqvlf
      301 qhwarwgkwn kyqpldhvrr yfgekvalyf awlgfytgwl lpaavvgtlv flvgcflvfs
      361 diptqelcgs kdsfemcplc ldcpfwllss acalaqvree agrlfdhggt vffslfmalw
      421 avllleywkr ksatlayrwd csdyedteer prpqfaasap mtapnpitge depyfpersr
      481 arrmlagsvv ivvmvavvvm clvsiilyra imaivvsrsg ntllaawasr iasltgsvvn
      541 lvfililski yvslahvltr wemhrtqtkf edaftlkvfi fqfvnfyssp vyiaffkgrf
      601 vgypgnyhtl fgvrneecaa ggclielaqe llvimvgkqv innmqevlip aavrlrhhlr
      661 grlsaraalr paqqlggdpl graqvrlrvp apggrarpgh rhlvphpggp hapgghqqrl
      721 ppgllvrlpa arllpvdprp rparlpqlha gaspvllrrr aqphvqcsrt srrqnssdtg
      781 lkkeevflfg rgrrqtrvfr aelaekeils plkglql
//
LOCUS       XP_016884101             205 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C22orf15 isoform X4 [Homo sapiens].
ACCESSION   XP_016884101
VERSION     XP_016884101.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017028612.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..205
                     /product="uncharacterized protein C22orf15 isoform X4"
                     /calculated_mol_wt=22824
     Region          7..101
                     /region_name="Il2rg"
                     /note="Putative Interleukin 2 receptor, gamma chain;
                     pfam15874"
                     /db_xref="CDD:434986"
     Region          78..>146
                     /region_name="Ferritin_like"
                     /note="Ferritin-like superfamily of diiron-containing
                     four-helix-bundle proteins; cl00264"
                     /db_xref="CDD:444798"
     CDS             1..205
                     /gene="C22orf15"
                     /gene_synonym="N27C7-3"
                     /coded_by="XM_017028612.2:318..935"
                     /db_xref="GeneID:150248"
                     /db_xref="HGNC:HGNC:15558"
ORIGIN      
        1 mfikvmfgag csvlvntscr lvnltahlrq kaglppdati allaedgnlv sleedlkega
       61 sraqtmgnsl lkeraiyvlv riikgedmas tryesllenl ddhypelaee lrrlsglssv
      121 ghnwrkrmgt rrgrheqspt srprkvqtdn npaglllqnl ellrsciskr gkvrqdlrpp
      181 gapklwvqrm gcrgrdkkgr ggryp
//
LOCUS       XP_047297542             252 aa            linear   PRI 20-MAR-2023
DEFINITION  glutathione hydrolase light chain 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047297542
VERSION     XP_047297542.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441586.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..252
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..252
                     /product="glutathione hydrolase light chain 2 isoform X1"
                     /calculated_mol_wt=26918
     Region          <1..247
                     /region_name="G_glu_transpept"
                     /note="Gamma-glutamyltranspeptidase; cl19223"
                     /db_xref="CDD:450276"
     CDS             1..252
                     /gene="GGTLC2"
                     /gene_synonym="GGTL4"
                     /coded_by="XM_047441586.1:47..805"
                     /db_xref="GeneID:91227"
                     /db_xref="HGNC:HGNC:18596"
                     /db_xref="MIM:612339"
ORIGIN      
        1 mtseffaaql raqisddtth pisyykpefy tpvdggtahl svvaedgsav satstinlyf
       61 gskvrspvse ilfndemddf sspnitnefg vppspanfiq pgkqplssmc ptimvgqdgq
      121 vrmvvgaagg tqittatali cvtpflpgra hpaqppshad htpmpqaiiy nlwfgydvkr
      181 aveeprlhnq llpnvttver nidqavtaal etrhhhtqia stfiavvqai vrtaggwaaa
      241 sdsrkggepa gy
//
LOCUS       XP_005247620             507 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 41 member 3 isoform X2 [Homo sapiens].
ACCESSION   XP_005247620
VERSION     XP_005247620.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005247563.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..507
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..507
                     /product="solute carrier family 41 member 3 isoform X2"
                     /calculated_mol_wt=54636
     Region          106..238
                     /region_name="MgtE"
                     /note="Divalent cation transporter; pfam01769"
                     /db_xref="CDD:426419"
     Region          319..456
                     /region_name="MgtE"
                     /note="Divalent cation transporter; pfam01769"
                     /db_xref="CDD:426419"
     CDS             1..507
                     /gene="SLC41A3"
                     /gene_synonym="SLC41A1-L2"
                     /coded_by="XM_005247563.3:120..1643"
                     /db_xref="GeneID:54946"
                     /db_xref="HGNC:HGNC:31046"
                     /db_xref="MIM:610803"
ORIGIN      
        1 mdgtetrqrr ldscgkpgel glphplstgg lpvasedgal rapesqsvtp kpletepsre
       61 ttwsiglqvt vpfmfaglgl swagmlldyf qhwpvfvevk dlltlvpplv glkgnlemtl
      121 asrlstaant gqiddpqeqh rvissnlali qvqatvvgll aavaalllgv vsreevdvak
      181 vellcassvl taflaafalg vlmvciviga rklgvnpdni atpiaaslgd litlsilalv
      241 ssffyrhkds ryltplvcls faaltpvwvl iakqsppivk ilkfgwfpii lamvissfgg
      301 lilsktvskq qykgmaiftp vicgvggnlv aiqtsristy lhmwsapgvl plqmkkfwpn
      361 pcstfctsei nsmsarvlll lvvpghliff yiiylvegqs vinsqtfvvl yllagliqvt
      421 illylaevmv rltwhqaldp dnhcipyltg lgdllgsssv ghtaavprrc taspgwgliq
      481 pfictqhliv sllsfyfpfc llaktsi
//
LOCUS       XP_047305566            1228 aa            linear   PRI 20-MAR-2023
DEFINITION  limbin isoform X1 [Homo sapiens].
ACCESSION   XP_047305566
VERSION     XP_047305566.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449610.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1228
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1228
                     /product="limbin isoform X1"
                     /calculated_mol_wt=139730
     Region          157..580
                     /region_name="EVC2_like"
                     /note="Ellis van Creveld protein 2 like protein;
                     pfam12297"
                     /db_xref="CDD:432462"
     Region          555..>714
                     /region_name="PRK12704"
                     /note="phosphodiesterase; Provisional"
                     /db_xref="CDD:237177"
     Region          <573..887
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     CDS             1..1228
                     /gene="EVC2"
                     /gene_synonym="LBN; WAD"
                     /coded_by="XM_047449610.1:234..3920"
                     /db_xref="GeneID:132884"
                     /db_xref="HGNC:HGNC:19747"
                     /db_xref="MIM:607261"
ORIGIN      
        1 miwpkvecch fktaveaplg mkldkkmevf iplstsaass gpwahslfaf ipswpkknlf
       61 krespithrl ygdisrevqg tsengvifqk calvsgssea qtariwllvn ntkttssanl
      121 selllldsia gltiwdsvgn rtsegfqafs kkflqvgdaf avsyaatlqa gdlgngeslk
      181 lpaqltfqss srnrtqlkvl fsitaeenvt vlphhglhaa gffiafllsl vltwaalflm
      241 vryqclkgnm ltrhrvwqye skleplpfts adgvnedlsl ndqmidilss edpgsmlqal
      301 eeleiatlnr adadleacrt qiskdiiall lknltssghl spqverkmsa vfkkqfllle
      361 neiqeeydrk mvaltaecdl etrkkmenqy qremmameea eellkrager savecsnllr
      421 tlhgleqehl rkslalqqee dfakahrqla vfqrnelhsi fftqiksaif kgelkpeaak
      481 mllqnyskiq enveelmdff qaskryhlsk rfghreylvq nlqssetrvq gllstaaaql
      541 thliqkhera gyldedqmem lleraqtevf sikqkldndl kqekkklhqk litkrrrell
      601 qkhreqrreq asvgeafrtv edagqylhqk rslmeehgat leelqerldq aalddlrtlt
      661 lslfekatde lrrlqnsamt qellkrgvpw lflqqileeh gkemaaraeq legeerdrdq
      721 egvqsvrqrl kddapeavte eqaelrrweh lifmklcssv fslseeellr mrqevhgcfa
      781 qmdrslalpk irarvllqqf qtawreaefv kldqavaape lqqqskvrks rskskskgel
      841 lkkciedkih lceeqasedl vekvrgellr ervqrmeaqe ggfaqslval qfqkasrvte
      901 tlsaytalls iqdllleels asemltksac tqileshsre lqelerkled qlvqqeaaqq
      961 qqalaswqqw vadgpgilne pgevdserqv stvlhqalsk sqtlleqhqq clreeqqnsv
     1021 vledllenme adtfatlcsq elrlasylar mamvpgatlr rllsvvlpta sqpqllalld
     1081 saterhvdha aesdggaeqa dvgrrrkhqs wwqaldgklr gdlisrglek mlwarkrkqs
     1141 ilkktclplr ermifsgkgs wphlslepig elapvpivga etidllntge klfifrnpke
     1201 peislhvppr kkknflnakk amralgmd
//
LOCUS       XP_011513249            1330 aa            linear   PRI 20-MAR-2023
DEFINITION  tau-tubulin kinase 1 isoform X3 [Homo sapiens].
ACCESSION   XP_011513249
VERSION     XP_011513249.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514947.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1330
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1330
                     /product="tau-tubulin kinase 1 isoform X3"
                     /calculated_mol_wt=143449
     Region          33..294
                     /region_name="STKc_TTBK1"
                     /note="Catalytic domain of the Serine/Threonine protein
                     kinase, Tau-Tubulin Kinase 1; cd14130"
                     /db_xref="CDD:271032"
     Site            order(40..44,48,61,63,91,107..110,113,115,154,156,
                     158..159,161,176,179,201..204)
                     /site_type="active"
                     /db_xref="CDD:271032"
     Site            order(40..44,48,61,63,91,107..110,113,154,156,158..159,
                     161,176)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271032"
     Site            order(44,113,115,154,156,158,179,201..204)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271032"
     Site            order(175..181,201..204)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271032"
     Region          324..>690
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          1004..>1297
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     CDS             1..1330
                     /gene="TTBK1"
                     /gene_synonym="BDTK"
                     /coded_by="XM_011514947.3:283..4275"
                     /db_xref="GeneID:84630"
                     /db_xref="HGNC:HGNC:19140"
                     /db_xref="MIM:619415"
ORIGIN      
        1 mqclaaalkd etnmsgggeq adilpanyvv kdrwkvlkki ggggfgeiye amdlltrenv
       61 alkvesaqqp kqvlkmevav lkklqgkdhv crfigcgrne kfnyvvmqlq grnladlrrs
      121 qprgtftlst tlrlgkqile sieaihsvgf lhrdikpsnf amgrlpstyr kcymldfgla
      181 rqytnttgdv rpprnvagfr gtvryasvna hknremgrhd dlwslfymlv efavgqlpwr
      241 kikdkeqvgm ikekyehrml lkhmpsefhl fldhiasldy ftkpdyqlim svfensmker
      301 giaeneafdw ekagtdalls tststppqqn trqtaamfgv vnvtpvpgdl lrentedvlq
      361 gehlsdqena ppilpgrpse glgpsphlvp hpggpeaevw eetdvnrnkl rinigkvtaa
      421 rakgspcvee eqsrgmgvps spvrappdsp ttpvrslryr rvnspeserl stadgrvelp
      481 errsrmdlpg spsrqacssq paqmlsvdtg hadrqasgrm dvsasveqea lsnafrsvpl
      541 aeeedfdske wviidketel kdfppgaeps tsgttdeepe elrplpeege errrlgaept
      601 vrprgrsmqa laeedlqhlp pqplppqlsq gdgrsetsqp ptpgspshsp lhsgprprrr
      661 esdptgpqrq vfsvappfev nglpravpls lpyqdfkrdl sdyrerarll nrvrrvgfsh
      721 mllttpqvpl apvqpqangk eeeeeeeede eeeeedeeee eeeeeeeeee eeeeeeeeea
      781 aaavalgevl gprsgssseg serstdrsqe gapstlladd qkesrgrasm adgdlepeeg
      841 sktlvlvspg dmkkspvtae lapdpdlgtl aaltpqherp qptgsqldvs epgtlssvlk
      901 sepkppgpga glgagtvttg vggvavtssp ftkvertfvh iaekthlnvm ssggqalrse
      961 efsaggelgl elasdggave egarapleng lalsglngae iegsalsgap retpsematn
     1021 slpngpalad gpapvsplep spekvatisp rrhampgsrp rsripvllse edtgsepsgs
     1081 lsakerwskr arpqqdlarl vmekrqgrll lrlasgasss sseeqrrase tlsgtgseed
     1141 tpasepaaal prksgraaat rsriprpigl rmpmpvaaqq pasrshgaap aldtaitssr
     1201 lqlqtppgsa taadlrpkqp pgrglgpgra qagarppapr sprlpastsa arnasasprs
     1261 qslsrresps pshqarpgvp pprgvppara qpdgtpspgg skkgprgklq aqrattkgra
     1321 ggaegragar
//
LOCUS       XP_011516173            1355 aa            linear   PRI 20-MAR-2023
DEFINITION  spermatogenesis-associated protein 31A6 isoform X1 [Homo sapiens].
ACCESSION   XP_011516173
VERSION     XP_011516173.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011517871.4
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1355
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1355
                     /product="spermatogenesis-associated protein 31A6 isoform
                     X1"
                     /calculated_mol_wt=149124
     Region          88..169
                     /region_name="DUF4599"
                     /note="Domain of unknown function (DUF4599); pfam15371"
                     /db_xref="CDD:434672"
     Region          99..>286
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          408..762
                     /region_name="FAM75"
                     /note="FAM75 family; pfam14650"
                     /db_xref="CDD:434097"
     CDS             1..1355
                     /gene="SPATA31A6"
                     /gene_synonym="FAM75A6"
                     /coded_by="XM_011517871.4:1..4068"
                     /db_xref="GeneID:389730"
                     /db_xref="HGNC:HGNC:32006"
ORIGIN      
        1 menlpfplkl lsasslnaps stpwvldifl tlvfalgfff lllpylsyfh cddppspspg
       61 krkrhlvsvr hhvsqcpvgr rrrprgrmkn hslragrecp rgleetsdll sqlqsllgph
      121 ldkgdfgqls gpdppgevge rapdgasqss hepmedaapi lsplaspdpq akhpqdlast
      181 pspgpmttsv sslsasqppe pslplehpsp eppalfphpp htpdplacsp pppkgftapp
      241 lrdstlitps hcdsvalplg tvpqslsphe dlvasvpais glggsnshvs assrwqetar
      301 tscafnssvq qdplsrhppe tcqmeagslf llssdgqnvv giqvtetakv niweekenvg
      361 sftnqmtpek hlnslgnlak sldaeqdttn pkpfwnmgen skqlpgpqkc sdprllqesf
      421 wknysqlfwg lpslhseslv anawvtdrsy tlqsppflfn emsnvcpiqr ettmspllfq
      481 aqplshrqpf isstpqflpt pmaqaeaqah lqssfpvlsp afpslikntg vacpasqnkv
      541 qalslpetqh pewpllrkql egrlalpsrv qksqdvfsvs tpnlpqeslt silpenfpvs
      601 pelrrqleqh ikkwiiqhwg nlgriqesld lmqlrdespg tsqakgkpsp wqsststges
      661 skeaqkvkfq lerdlcphlg qilgetpqnl srdmksfprk vlgvtseese rnlrkplrsd
      721 sgsdllrcte rthienilka hmgrnlgqtn eglipvrvrr swlavnqalp vsnthvktsn
      781 laapksgkac vntaqvlsfl epctqqglga hivrfwakhr wglplrvlkp iqcfklekvs
      841 slsltqlagp ssatcesgag sevevdmflr kppmaslrkq vltkasdhmp esllasspaw
      901 kqfqraprgi pswndhgplk pppagqegrw pskpltyslt gstqqsrslg aqsskagetr
      961 eavpqcrvpl etcmlanlqa tsedvhgfea pgtsksslhp rvsvsqdprk lclmeevvse
     1021 fepgmatkse tqpqvcaavv llpdgqasvv phasenlvsq vpqghlqsmp tgnmrasqel
     1081 hdlmaarrsk lvqeeprnpn cqgscksqrp mfppihksek srkpnlekhe erleglrtpq
     1141 ltpvrktedt hqdegvqllp skkqppsvsh fgenikqffq wifskkkskp apvtaesqkt
     1201 vknrscvyss saeaqglmta vgqmldkkms lchahhaskv nqhkqkfqap vcgfpcnhrh
     1261 lfysehgril syaassqqat lksqgcpnrd rqirnqqplk svrcnneqwg lrhpqilhpk
     1321 kavspvsppq hwpktsgass hhhhcprhcl lwegi
//
LOCUS       XP_005252374             471 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine deaminase isoform X5 [Homo sapiens].
ACCESSION   XP_005252374
VERSION     XP_005252374.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005252317.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..471
                     /product="guanine deaminase isoform X5"
                     /calculated_mol_wt=52706
     Region          13..444
                     /region_name="GDEase"
                     /note="Guanine deaminase (GDEase). Guanine deaminase is an
                     aminohydrolase responsible for the conversion of guanine
                     to xanthine and ammonia, the first step to utilize guanine
                     as a nitrogen source. This reaction also removes the
                     guanine base from the pool and...; cd01303"
                     /db_xref="CDD:238628"
     Site            order(82,84,240,243,279,330)
                     /site_type="active"
                     /db_xref="CDD:238628"
     CDS             1..471
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /coded_by="XM_005252317.3:121..1536"
                     /db_xref="GeneID:9615"
                     /db_xref="HGNC:HGNC:4212"
                     /db_xref="MIM:139260"
ORIGIN      
        1 mcaaqmppla hifrgtfvhs twtcpmevlr dhllgvsdsg kivfleeasq qeklakewcf
       61 kpceirelsh heffmpglvd thihasqysf agssidlpll ewltkytfpa ehrfqnidfa
      121 eevytrvvrr tlkngtttac yfatihtdss llladitdkf gqrafvgkvc mdlndtfpey
      181 ketteesike terfvsemlq knysrvkpiv tprfslscse tlmgelgnia ktrdlhiqsh
      241 isenrdevea vknlypsykn ytsvydknnl ltnktvmahg cylsaeelnv fhergasiah
      301 cpnsnlslss gflnvlevlk hevkiglgtd vaggysysml dairravmvs nillinkvne
      361 ksltlkevfr latlggsqal gldgeignfe vgkefdaili npkasdspid lfygdffgdi
      421 seaviqkfly lgddrnieev yvggkqvvpf sssvketihl passphpppf p
//
LOCUS       XP_054185932            2622 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor TFIIIB component B'' homolog isoform X2 [Homo
            sapiens].
ACCESSION   XP_054185932
VERSION     XP_054185932.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329957.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187651.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2622
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     Protein         1..2622
                     /product="transcription factor TFIIIB component B''
                     homolog isoform X2"
                     /calculated_mol_wt=293539
     CDS             1..2622
                     /gene="BDP1"
                     /gene_synonym="DFNB112; HSA238520; TAF3B1; TFC5; TFIIIB'';
                     TFIIIB150; TFIIIB90; TFNR"
                     /coded_by="XM_054329957.1:228..8096"
                     /db_xref="GeneID:55814"
                     /db_xref="HGNC:HGNC:13652"
                     /db_xref="MIM:607012"
ORIGIN      
        1 mfrrarlsvk pnvrpgvgar gstasnpqrg resprppepa tdsaskpaep tdvptvdfgg
       61 aepqekaprs stektggdnd veessrssst vsqrrkriss tsslvkssvs vpseshplst
      121 inqeapqpta tstkekqpcs dryriykaqk lremlkeelr kekkqwknky ainesqrppd
      181 rskmtmrdfi yylpdnnpmt ssleqekkte kpstpvqtre qegkstpnae dnemeeetdd
      241 gpllvprvkv aedgsiilde esltvevlrt kgpcvveend pifergsttt yssfrknyys
      301 kpwsnketdm fflaismvgt dfsmigqlfp hrarieiknk fkreektngw ridkafqekr
      361 pfdfdffahl lqkvlaeeek rkqksvknhs lkekkstkpr knvkvkkvac egvnndpdes
      421 mssrisdter sqkdaqtvee esltlsreda eqvalevdln qkkrrrkkqd ganelgvnnl
      481 lenatvqagp skgekhknkc qairpelkeg ecskeqmlsc tqnidgivgf astekvekrt
      541 dpilslsnqq datsvatess esstsdlpsf evgiralcev nnaegsciee rnvdlknnsl
      601 eidqtenvkp mlrgrfqrpk pnlsragkks vlsqgktese sknshsktsv eknhvekdkm
      661 ntldilrmet terenpeaet vsvlgekncl qegsqlkalr pvqvrgrlqk pkpnagkaae
      721 rkeilisqee iganveknen escadrdtpq hmedqsrkdf eeedvilqpe kndsfqnvqp
      781 depkvlnecl svqennkank lnqvpilrtr fqkpkpnigr gtgrreissk eevlekilvs
      841 gemaaalret vrldtspkem vpaeintkem qsdlketgrr aisprekild viddtiemet
      901 glkamgreic lrektpevid ateeidkdle eagrreispq kngpeevkpl gevetdlkat
      961 gnessprekt pevtdateei dknleetgrr kisprengpe evkpvdemet dlnatgress
     1021 prektpevid ateeidleet erevspqeng leevkplgem etdlkatgrd sfprgktpev
     1081 idaieeieid leetereisp qengleevkp lgemqtdlka tgreisprek tpevidatee
     1141 idkdleetgr reispeengp eevkpvdeme tdlkttgreg ssrektrevi daaevietdl
     1201 eetereispq engpeevkpv gkmetdlkei reeisqrekv laefsairek eidlketgkr
     1261 dipimekvsg kmavveemea dlketgkenf rergseeicv teekvaelkq tgktdispre
     1321 neleetstsr qtdthlmqsg sndfsavpsl diqnissevl smmhtpveek rnsekevssh
     1381 fshfkissqt hesdktevqg iqspdvpeqf sdinlskslp qeqkpleikp apfvrsrfkr
     1441 pkpnlaraal kretteseky iyekksetkk metivmqenn eqtdtlpsqh deaslmisre
     1501 kdtlghrnee avilpctqte rnlspsnsce pkeesqsapv qkndsvvsvg tnnvntfqqe
     1561 mkesviqtar qvrgrlqrpr pnirktgqrq ivdkgeakgi ikegrtilpk detekkvltv
     1621 snsqieteie vpssavpehr myenqsqvvl venlhvnktn etirhenkpy vpssaqmtrr
     1681 kfqkakpnlg rahskkeepv lekvttdqsk egkpedhllq kgasntqlll kekaelltsl
     1741 evsarkdcvg skesalakid aeleevgpsr rvgeetvgdn spssvveeqy lnkltscpqp
     1801 lnetsyskia ldgkttisst seyernrger rshkkfkpnv trgrgskrvr gktskkepra
     1861 skamlvtlra sqeedddadd fesdyeeesy hlapeevnka pvfvpvglrs pepvsaqiee
     1921 tmeeleitvn vpdvgciavv ehelpntdvt teemkqeenl svpfemttse hiqdepgtnd
     1981 gsteaaitll tmgdlvlqse isseqgdvgv ciiphvhskd kshipssldn vnhkivhecq
     2041 elsspvitts pasfeenkiv leeqssreei slmekvkena tptrntiskv tsnlrirsrl
     2101 akpkpnlekt lgtnrlddyq evsslcvtkg aemetqrekn askatelenk nlgpvttaen
     2161 kdqsklacvh gikgtsisse vnlternenq eessqevhml svapvasset gpctlgldrg
     2221 lgensveepq ikdskgdsvl tlpvpeytpt sipevqqeni inpqdltvnl vanvpqdged
     2281 eqafiltlve ipanaveeft dataqfmpnp llpapilvks vnteergdms iclpatsvgq
     2341 damglsisgr dnskkppdnl dlvsrkrfqc rldkndhipp akkrsltlrd dcqeyttevh
     2401 skeltnvfee tgeshkgqdi fltsgstltt pepqrqqvea afqsrgsrsp dacmdknvpq
     2461 lpqdemivsd keertdaapk sqqmdsrtss skaslsrpgr rplgflslic sknslesdep
     2521 mqvhskkrlk plipglrkkl krsnpfnesq eknressdll pspsvittqs enisssatqv
     2581 scdqpllkeg yksaqkrapq geattvseyf fndifievde te
//
LOCUS       XP_054193621            1562 aa            linear   PRI 20-MAR-2023
DEFINITION  adenylate cyclase type 10 isoform X2 [Homo sapiens].
ACCESSION   XP_054193621
VERSION     XP_054193621.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337646.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1562
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1562
                     /product="adenylate cyclase type 10 isoform X2"
                     /calculated_mol_wt=181405
     CDS             1..1562
                     /gene="ADCY10"
                     /gene_synonym="HCA2; HEL-S-7a; hsAC; SAC; SACI; Sacy"
                     /coded_by="XM_054337646.1:218..4906"
                     /db_xref="GeneID:55811"
                     /db_xref="HGNC:HGNC:21285"
                     /db_xref="MIM:605205"
ORIGIN      
        1 mntpkeefqd wpivriaahl pdlivyghfs perpfmdyfd gvlmfvdisg ftamtekfss
       61 amymdrgaeq lveilnyhis aivekvlifg gdilkfagla aghismlvfg dethshflvi
      121 gqavddvrla qnmaqmndvi lspncwqlcd rsmieiesvp dqravkvnfl kpppnfnfde
      181 fftkcttfmh yypsgehknl lrlactlkpd pelemslqky vmesilkqid nkqlqgylse
      241 lrpvtivfvn lmfedqdkae eigpaiqday mhitsvlkif qgqinkvfmf dkgcsflcvf
      301 gfpgekvpde lthalecamd ifdfcsqvhk iqtvsigvas givfcgivgh tvrheytvig
      361 qkvnlaarmm myypgivtcd svtyngsnlp ayffkelpkk vmkgvadsgp lyqywgrtek
      421 vmfgmaclic nrkedypllg rnkeinyfmy tmkkflisns sqvlmyeglp gygksqilmk
      481 ieylaqgknh riiaislnki sfhqtfytiq mfmanvlgld tckhykerqt nlrnkvmtll
      541 dekfycllnd ifhvqfpisr eisrmstlkk qkqleilfmk ilklivkeer iifiideaqf
      601 vdstswrfme klirtlpifi imslcpfvni pcaaaravik nrnttyivig avqpndisnk
      661 icldlnvsci skeldsylge gscgipfyce ellknlehhe vlvfqqtese ektnrtwnnl
      721 fkysikltek lnmvtlhsdk eseevchlts gvrlknlspp tslkeisliq ldsmrlshqm
      781 lvrcaaiigl tfttellfei lpcwnmkmmi ktlatlvesn ifycfrngke lqkalkqndp
      841 sfevhyrsls lkpsegmdhg eeeqlrelen eviechrirf cnpmmqktay elwlkdqrka
      901 mhlkcarfle edahrcdhcr grdfipyhhf tvnirlnald mdaikkmams hgfkteekli
      961 lsnseipets affpenrspe eirekilnff dhvltkmkts dediiplesc qceeileivi
     1021 lplahhflal gendkalyyf leiasaylif cdnymaymyl negqkllktl kkdkswsqtf
     1081 esatfyslkg evcfnmgqiv lakkmlrkal kllnrifpyn lislflhihv eknrhfhyvn
     1141 rqaqespppg kkrlaqlyrq tvclsllwri ysysylfhck yyahlavmmq mntaletqnc
     1201 fqiikayldy slyhhlagyk gvwfkyevma mehifnlplk gegieivayv aetlvfnkli
     1261 mghldlaiel gsralqmwal lqnpnrhyqs lcrlsrclll nsrypqliqv lgrlwelsvt
     1321 qehifskaff yfvcldilly sgfvyrtfee clefihqyen nrilkfhsgl llglyssvai
     1381 wyarlqewds fykfsnrakn llprrtmtlt yydgisryme gqvlhlqkqi keqsenaqas
     1441 geellknlen lvaqnttgpv fcprlyhlma yvcilmgdgq kcglflntal rlsetqgnil
     1501 ekcwlnmnke swystselke dqwlqtilsl pswekivagr vniqdlqknk flmrantvdn
     1561 hf
//
LOCUS       XP_054221729             215 aa            linear   PRI 20-MAR-2023
DEFINITION  isopentenyl-diphosphate Delta-isomerase 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054221729
VERSION     XP_054221729.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365754.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..215
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..215
                     /product="isopentenyl-diphosphate Delta-isomerase 1
                     isoform X2"
                     /calculated_mol_wt=24843
     CDS             1..215
                     /gene="IDI1"
                     /gene_synonym="IPP1; IPPI1"
                     /coded_by="XM_054365754.1:1..648"
                     /db_xref="GeneID:3422"
                     /db_xref="HGNC:HGNC:5387"
                     /db_xref="MIM:604055"
ORIGIN      
        1 mcitllhftg iicflqsggl wqpcmeqvcq hhlsnrllhr afsvflfnte nklllqqrsd
       61 akitfpgcft ntccshplsn paeleesdal gvrraaqrrl kaelgiplee vppeeinylt
      121 rihykaqsdg iwgeheidyi llvrknvtln pdpneiksyc yvskeelkel lkkaasgeik
      181 itpwfkiiaa tflfkwwdnl nhlnqfvdhe kiyrm
//
LOCUS       XP_054226903             419 aa            linear   PRI 20-MAR-2023
DEFINITION  ras association domain-containing protein 8 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054226903
VERSION     XP_054226903.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370928.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..419
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..419
                     /product="ras association domain-containing protein 8
                     isoform X1"
                     /calculated_mol_wt=48196
     CDS             1..419
                     /gene="RASSF8"
                     /gene_synonym="C12orf2; HOJ1"
                     /coded_by="XM_054370928.1:95..1354"
                     /db_xref="GeneID:11228"
                     /db_xref="HGNC:HGNC:13232"
                     /db_xref="MIM:608231"
ORIGIN      
        1 melkvwvdgv qrivcgvtev ttcqevvial aqaigrtgry tliekwrdte rhlaphenpi
       61 islnkwgqya sdvqlilrrt gpslserpts dsvaripert lyrqslppla klrpqidksi
      121 krrepkrksl tftggakglm difgkgkete fkqkvlnnck ttadelkkli rlqteklqsi
      181 ekqlesneie irfweqkyns nleeeivrle qkikrndvei eeeefwenel qieqenekql
      241 kdqlqeirqk itecenklkd ylaqirtmes gleaeklqre vqeaqvneee vkgkigkvkg
      301 eidiqgqqsl rlengikave rslgqatkrl qdkeqeleql tkelrqvnlq qfiqqtgtkv
      361 tvlpaepiei eashadiere apfqsgslkr pgssrqlpsn lrilqnpiss gfnpegiyv
//
LOCUS       XP_054229508            1277 aa            linear   PRI 20-MAR-2023
DEFINITION  lysine-specific demethylase 2B isoform X31 [Homo sapiens].
ACCESSION   XP_054229508
VERSION     XP_054229508.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373533.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1277
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1277
                     /product="lysine-specific demethylase 2B isoform X31"
                     /calculated_mol_wt=145791
     CDS             1..1277
                     /gene="KDM2B"
                     /gene_synonym="CXXC2; Fbl10; FBXL10; JHDM1B; PCCX2"
                     /coded_by="XM_054373533.1:92..3925"
                     /db_xref="GeneID:84678"
                     /db_xref="HGNC:HGNC:13610"
                     /db_xref="MIM:609078"
ORIGIN      
        1 mkgnvfrsaa dckgsglavf prpidrqryd enedlsdvee ivsvrgfsle eklrsqlyqg
       61 dfvhamegkd fnyeyvqrea lrvplifrek dglgikmpdp dftvrdvkll vgsrrlvdvm
      121 dvntqkgtem smsqfvryye tpeaqrdkly nvislefsht klehlvkrpt vvdlvdwvdn
      181 mwpqhlkekq teatnaiaem kypkvkkycl msvkgcftdf hidfggtsvw yhvfrggkif
      241 wlipptlhnl alyeewvlsg kqsdiflgdr vercqrielk qgytffipsg wihavytpvd
      301 slvfggnilh sfnvpmqlri yeiedrtrvq pkfrypfyye mcwyvleryv ycvtqrshlt
      361 qeyqresmli daprkpsidg fssdswleme eeacdqqpqe eeekdeegeg rdrapkpptd
      421 gstsptstps edqealgkkp kapalrflkr tlsneseesv ksttlavdyp ktptgspate
      481 vsakwthlte felkglkalv ekleslpenk kcvpegiedp qallegvknv lkehadddps
      541 laitgvpvvt wpkktpknra vgrpkgklgp asavklaanr ttagarrrrt rcrkceaclr
      601 tecgechfck dmkkfggpgr mkqscimrqc iapvlphtav clvcgeagke dtveeeegkf
      661 nlmlmecsic neiihpgclk ikesegvvnd elpncwecpk cnhagktgkq krgpgfkyas
      721 nlpgsllkeq kmnrdnkegq epakrrsece eaprrrsdeh skkvppdgll rrksddvhlr
      781 kkrkyekpqe lsgrkrlkpg kedklfrkkr rswknaedrm alankplrrf kqepedelpe
      841 appktresdh srsssptagp stegaegpee kkkvkmrrkr rlpnkelsre lskelnheiq
      901 rtenslanen qqpiksepes egeepkrppg icerphrfsk glngtprelr hqlgpslrsp
      961 prvisrppps vsppkciqme rhvirpppis pppdslpldd gaahvmhrev wmavfsylsh
     1021 qdlcvcmrvc rtwnrwccdk rlwtridlnh cksitplmls giirrqpvsl dlswtniskk
     1081 qlswlinrlp glrdlvlsgc swiavsalcs sscpllrtld vqwveglkda qmrdllsppt
     1141 dnrpgqmdnr sklrnivelr laglditdas lrliirhmpl lsklhlsycn hvtdqsinll
     1201 tavgtttrds lteinlsdcn kvtdqclsff krcgnichid lryckqvtke gceqfiaems
     1261 vsvqfgqvee kllqkls
//
LOCUS       XP_054234982             614 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat and immunoglobulin-like domain-containing nogo
            receptor-interacting protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054234982
VERSION     XP_054234982.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379007.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..614
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..614
                     /product="leucine-rich repeat and immunoglobulin-like
                     domain-containing nogo receptor-interacting protein 1
                     isoform X1"
                     /calculated_mol_wt=69015
     CDS             1..614
                     /gene="LINGO1"
                     /gene_synonym="LERN1; LRRN6A; MRT64; UNQ201"
                     /coded_by="XM_054379007.1:146..1990"
                     /db_xref="GeneID:84894"
                     /db_xref="HGNC:HGNC:21205"
                     /db_xref="MIM:609791"
ORIGIN      
        1 mlaggvrsmp spllacwqpi lllvlgsvls gsatgcpprc ecsaqdravl chrkrfvavp
       61 egiptetrll dlgknriktl nqdefasfph leelelneni vsavepgafn nlfnlrtlgl
      121 rsnrlklipl gvftglsnlt kldisenkiv illdymfqdl ynlkslevgd ndlvyishra
      181 fsglnsleql tlekcnltsi ptealshlhg livlrlrhln inairdysfk rlyrlkvlei
      241 shwpyldtmt pnclyglnlt slsithcnlt avpylavrhl vylrflnlsy npistiegsm
      301 lhellrlqei qlvggqlavv epyafrglny lrvlnvsgnq lttleesvfh svgnletlil
      361 dsnplacdcr llwvfrrrwr lnfnrqqptc atpefvqgke fkdfpdvllp nyftcrrari
      421 rdrkaqqvfv deghtvqfvc radgdpppai lwlsprkhlv saksngrltv fpdgtlevry
      481 aqvqdngtyl ciaanaggnd smpahlhvrs yspdwphqpn ktfafisnqp gegeanstra
      541 tvpfpfdikt liiattmgfi sflgvvlfcl vllflwsrgk gntkhnieie yvprksdagi
      601 ssadaprkfn mkmi
//
LOCUS       XP_054235032            4902 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase HERC1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054235032
VERSION     XP_054235032.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379057.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4902
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..4902
                     /product="probable E3 ubiquitin-protein ligase HERC1
                     isoform X3"
                     /calculated_mol_wt=536596
     CDS             1..4902
                     /gene="HERC1"
                     /gene_synonym="MDFPMR; p532; p619"
                     /coded_by="XM_054379057.1:190..14898"
                     /db_xref="GeneID:8925"
                     /db_xref="HGNC:HGNC:4867"
                     /db_xref="MIM:605109"
ORIGIN      
        1 matmippvkl kwlehlnssw itedsesiat regvavlysk lvsnkevvpl pqqvlclkgp
       61 qlpdferesl ssdeqdhyld allssqlala kmvcsdspfa galrkrllvl qrvfyalsnk
      121 yhdkgkvkqq qhspesssgs advhsvserp rsstdaliem gvrtglsllf allrqswmmp
      181 vsgpglslcn dvihtaievv sslpplslan eskippmgld clsqvttflk gvtipnsgad
      241 tlgrrlasel llglaaqrgs lryllewiem algasavvht mekgkllssq egmisfdcfm
      301 tilmqmrrsl gssadrsqwr eptrtsdglc slyeaalclf eevcrmasdy srtcaspdsi
      361 qtgdapivse tcevyvwgsn sshqlvegtq ekilqpklap sfsdaqtiea gqyctfvist
      421 dgsvracgkg sygrlglgds nnqstlkklt fephrsikkv ssskgsdght lafttegevf
      481 swgdgdygkl ghgnsstqky pkliqgplqg kvvvcvsagy rhsaavtedg elytwgegdf
      541 grlghgdsns rniptlvkdi snvgevscgs shtialskdg rtvwsfgggd ngklghgdtn
      601 rvykpkviea lqgmfirkvc agsqsslalt stgqvyawgc gaclgcgsse atalrpklie
      661 elaatrivdv sigdshclal shdnevyawg nnsmgqcgqg nstgpitkpk kvsgldgiai
      721 qqisagtshs lawtalprdr qvvawhrpyc vdleestfsh lrsflerycd kinseipplp
      781 fpssrehhsf lklclkllsn hlalalaggv atsilgrqag plrnllfrlm dstvpdeiqe
      841 vvietlsvga tmllpplrer mellhsllpq gpdrweslsk gqrmqldiil tslqdhthva
      901 sllgysspsd aadlssvctg ygnlsdqpyg tqschpdthl aeilmktllr nlgfytdqaf
      961 geleknsdkf llgtsssens qpahlhellc slqkqllafc hinnisenss svallhkhlq
     1021 lllphatdiy srsanllkes pwngsvgekl rdviyvsaag smlcqivnsl lllpvsvarp
     1081 llsylldllp pldclnrllp aadlledqel qwplhggpel idpaglplpq paqswvwlvd
     1141 lertiallig rclggmlqgs pvspeeqdta ywmktplfsd gvemdtpqld kcmsclleva
     1201 lsgneeqkpf dyklrpeiav yvdlalgcsk eparslwism qdyavskdwd satlsnesll
     1261 dtvsrfvlaa llkhtnllsq acgesryqpg khlsevyrcv ykvrsrllac knleliqtrs
     1321 ssrdrwisen qdsadvdpqe hsftrtidee aemeeqaerd reeghpeped eeeerehevm
     1381 tagnlvfvlh vteifqcfls arevarsrdr drmnsgagsg araddpppqs qqerrvstdl
     1441 pegqdvytaa cnsvihrcal lilgvspvid elqkrreegq lqqpstsase ggglmtrses
     1501 ltaesrlvht spnyrliksr sesdlsqpes deegyalsgr rnvdldlaas hrkrvylllf
     1561 gqlsprkkks fkqvhdgpmh sqleslsdsw arlkhsrdwl cnssysfesd fdltkslgvh
     1621 tlienvvsfv sgdvgnapgf kepeesmsts pqasiiameq qqlraelrle alhqilvlls
     1681 gmeekgsisl agsrlssgfq sstlltsvrl qfvagcfglg tvghtgakge sgrlhhyqdg
     1741 iraakrniqi eiqvavhkiy qqlsatlera lqankhhiea qqrlllvtvf alsvhyqpvd
     1801 vslaistgll nvlsqlcgtd tmlgqplqll pktgvsqlst alkvastrll qilaittgty
     1861 adklspkvvq slldllcsql knllsqtgvl hmasfgegeq edgeeeekkv dssgetekkd
     1921 fraalrkqha aelhlgdflv flrrvvsska iqskmaspkw tevllniasq kcssgiplvg
     1981 nlrtrllalh vleavlpace sgveddqmaq iverlfslls dcmwetpiaq akhaiqikek
     2041 eqeiklqkqg eleeedenlp iqevsfdpek aqcclvengq ilthgsggkg yglastgvts
     2101 gcyqwkfyiv kenrgnegtc vgvsrwpvhd fnhrttsdmw lyraysgnly hngeqtltls
     2161 sftqgdfitc vldmeartis fgkngeepkl afedvdaael ypcvmfyssn pgekvkicdm
     2221 qmrgtprdll pgdpicspva avlaeatiql vrilhrtdrw tycinkkmme rlhkikicik
     2281 esgqklkksr svqsreenem reekeskeee kgkhtrhgla dlselqlrtl cievwpvlav
     2341 iggvdaglrv ggrcvhkqtg rhatllgvvk egstsakvqw deaeitisfp tfwspsdtpl
     2401 ynlepceplp fdvarfrglt asvlldltyl tgvhedmgkq stkrhekkhr heseekgdve
     2461 qkpesesald mrtgltsddv ksqsttssks eneiasfsld ptlpsvesqh qitegkrknh
     2521 ehmsknhdva qseiravqls ylylgamksl sallgcskya elllipkvla enghnsdcas
     2581 spvvhedvem raalqflmrh mvkravmrsp ikralgladl eraqamiykl vvhglledqf
     2641 ggkikqeidq qaeesdpaqq aqtpvttsps assttsfmss sledtttatt pvtdtetvpa
     2701 sespgvmpls llrqmfssyp tttvlptrra qtppisslpt spsdevgrrq sltspdsqsa
     2761 rpanrtalsd pssrlstspp ppaiavplle mgfslrqiak ameatgarge adaqnitvla
     2821 mwmiehpghe deeepqsgst adsrpgaavl gsggksndpc ylqspgdips adaaemeegf
     2881 sespdnldht enaasgsgps argrsavtrr hkfdlaartl laraaglyrs vqahrnqsrr
     2941 egislqqdpg alydfnldee leidlddeam eamfgqdlts dndilgmwip ehvcesedre
     3001 evvvcelcec svvsfnqhmk rnhpgcgrsa nrqgyrsngs yvdgwfggec gsgnpyyllc
     3061 gtcrekylam ktkskstsse rykgqapdli gkqdsvyeed wdmldvdede kltgeeefel
     3121 lagplglndr rivpepvqfp dsdplgasva mvtatnsmee tlmqigchgs veksssgrit
     3181 lgeqaaalan phdrvvalrr vtaaaqvlla rtmvmralsl lsvsgsscsl aagleslglt
     3241 dirtlvrlmc laaagragls tspsamasts ersrgghska nkpisclayl stavgclasn
     3301 apsaakllvq lctqnlisaa tgvnlttvdd siqrkflpsf lrgiaeenkl vtspnfvvtq
     3361 alvalladkg aklrpnydks evekkgliaq lyahpsydps avgplelana laacclssrl
     3421 ssqhrqwaaq qlvrtlaahd rdnqttlqtl admggdlrkc sfikleahqn rvmtcvwcnk
     3481 kgllatsgnd gtirvwnvtk kqyslqqtcv fnrlegdaee slgspsdpsf spvswsisgk
     3541 ylagalekmv niwqvnggkg lvdiqphwvs alawpeegpa tawsgespel llvgrmdgsl
     3601 glievvdvst mhrrelehcy rkdvsvtcia wfsedrpfav gyfdgklllg tkeplekggi
     3661 vlidahkdtl ismkwdptgh ilmtcakeds vklwgsisgc wcclhslchp sivngiawcr
     3721 lpgkgsklql lmatgcqsgl vcvwripqdt tqtnvtsaeg wwdqesncqd gyrkssgakc
     3781 vyqlrghitp vrtvafssdg lalvsgglgg lmniwslrdg svlqtvvigs gaiqttvwip
     3841 evgvaacsnr skdvlvvnct aewaaanhvl atcrtalkqq gvlglnmapc mraflerlpm
     3901 mlqeqyayek phvvcgdqlv hspymqclas lavglhldql lcnppvpphh qnclpdpasw
     3961 npnewawlec fsttikaaea ltngaqfpes ftvpdlepvp edelvflmdn skwingmdeq
     4021 imswatsrpe dwhlggkcdv ylwgagrhgq laeagrnvmv paaapsfsqa qqvicgqnct
     4081 fviqangtvl acgegsygrl gqgnsddlhv ltvisalqgf vvtqlvtscg sdghsmalte
     4141 sgevfswgdg dygklghgns drqrrprqie alqgeevvqm scgfkhsavv tsdgklftfg
     4201 ngdygrlglg ntsnkklper vtalegyqig qvacglnhtl avsadgsmvw afgdgdygkl
     4261 glgnstakss pqkidvlcgi gikkvacgtq fsvaltkdgh vytfgqdrli glpegrarnh
     4321 nrpqqipvla gviiedvavg aehtlalasn gdvyawgsns egqlglghtn hvreptlvtg
     4381 lqgknvrqis agrchsaawt appvpprapg vsvplqlglp dtvppqygal revsihtvra
     4441 rlrllyhfsd lmysswrlln lspnnqnsts hynagtwgiv qgqlrpllap rvytlpmvrs
     4501 igktmvqgkn ygpqitvkri strgrkckpi fvqiarqvvk lnasdlrlps rawkvklvge
     4561 gaddaggvfd dtitemcqel etgivdllip spnataevgy nrdrflfnps acldehlmqf
     4621 kflgilmgva irtkkpldlh laplvwkqlc cvpltledle evdllyvqtl nsilhiedsg
     4681 iteesfhemi pldsfvgqsa dgkmvpiipg gnsipltfsn rkeyveraie yrlhemdrqv
     4741 aavregmswi vpvpllsllt akqleqmvcg mpeisvevlk kvvryrevde qhqlvqwfwh
     4801 tleefsneer vlfmrfvsgr srlpantadi sqrfqimkvd rpydslptsq tcffqlrlpp
     4861 yssqlvmaer lryainncrs idmdnymlsr nvdnaegsdt dy
//
LOCUS       XP_054172635            1132 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-expressed protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054172635
VERSION     XP_054172635.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316660.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1132
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1132
                     /product="testis-expressed protein 2 isoform X2"
                     /calculated_mol_wt=125609
     CDS             1..1132
                     /gene="TEX2"
                     /gene_synonym="HT008; TMEM96"
                     /coded_by="XM_054316660.1:119..3517"
                     /db_xref="GeneID:55852"
                     /db_xref="HGNC:HGNC:30884"
                     /db_xref="MIM:619929"
ORIGIN      
        1 mtslygrhae kttdmpkpsa pkvhvqrsvs rdtiaihfsa sgeeeeeeee efreyfeegl
       61 ddqsivtgle akedlylepq vghdpagpaa spvladglsv sqapailpvs kntvkllesp
      121 vpaaqvlstv plavspgsss sgplasspsv sslseqktss ssplsspsks pilsssasts
      181 tlssakpfms lvkslsteve pkesphparh rhlmktlvks lstdtsrqes dtvsykppds
      241 klnlhlfkqf tqprntggds ktapssplts psdtrsffkv pemeakiedt krrlseviye
      301 pfqllskiig eesgshrpka lsssaselsn lsslnghles nnnysikeee cdsegdgygs
      361 dsniprsdhp kstgeptrei elkssqgssl kdlglktssl vlekcslsal vskedeefce
      421 lytedfdlet egeskvdkls diplkpevla edgvvldsed evdsavqhpe lpvktlgffi
      481 mcvyvylilp lphyvsglfl giglgfmtav cviwfftpps ahkyhklhkn lrhwntrsld
      541 ikepeilkgw mneiynydpe tyhatlthsv fvrleggtlr lskpnknisr rasynepkpe
      601 vtyisqkiyd lsdskiylvp ktlarkriwn kkypicielg qqddfmskaq tdketseekp
      661 paegsedpkk pprpqegtrs sqrdqilylf grtgrekeew frrfilaskl kseikkssgv
      721 sggkpapvfl apgllpahsr hnspsghlth srssskgsve eimsqpkqke lagsvrqkml
      781 ldysvymgrc vpqesrspqr splqsaessp tagkklpevp pseeeeqeaw vnallgrifw
      841 dflgekywsd lvskkiqmkl skiklpyfmn eltlteldmg vavpkilqaf kpyvdhqglw
      901 idlemsyngs flmtletkmn ltklgkeplv ealkvgeigk egprafclad sdeesssags
      961 seeddapeps ggdkqllpga egyvgghrts kimrfvdkit kskyfqkate tefikkkiee
     1021 vsntpllltv evqecrgtla vnipppptdr vwygfrkpph velkarpklg erevtlvhvt
     1081 dwiekkleqe fqkvfvmpnm ddvyitimhs amdprstscl lkdppveaad qp
//
LOCUS       XP_054173245             132 aa            linear   PRI 20-MAR-2023
DEFINITION  dephospho-CoA kinase domain-containing protein isoform X2 [Homo
            sapiens].
ACCESSION   XP_054173245
VERSION     XP_054173245.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317270.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..132
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..132
                     /product="dephospho-CoA kinase domain-containing protein
                     isoform X2"
                     /calculated_mol_wt=14796
     CDS             1..132
                     /gene="DCAKD"
                     /coded_by="XM_054317270.1:359..757"
                     /db_xref="GeneID:79877"
                     /db_xref="HGNC:HGNC:26238"
ORIGIN      
        1 mflvgltggi asgkssviqv fqqlgcavid vdvmarhvvq pgypahrriv evfgtevlle
       61 ngdinrkvlg dlifnqpdrr qllnaithpe irkemmketf kyflreprts prgkkhvpsa
      121 lkeadslmrr dt
//
LOCUS       XP_054177686             351 aa            linear   PRI 20-MAR-2023
DEFINITION  carcinoembryonic antigen-related cell adhesion molecule 1 isoform
            X1 [Homo sapiens].
ACCESSION   XP_054177686
VERSION     XP_054177686.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321711.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..351
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..351
                     /product="carcinoembryonic antigen-related cell adhesion
                     molecule 1 isoform X1"
                     /calculated_mol_wt=38447
     CDS             1..351
                     /gene="CEACAM1"
                     /gene_synonym="BGP; BGP1; BGPI"
                     /coded_by="XM_054321711.1:108..1163"
                     /db_xref="GeneID:634"
                     /db_xref="HGNC:HGNC:1814"
                     /db_xref="MIM:109770"
ORIGIN      
        1 mghlsaplhr vrvpwqglll taslltfwnp pttaqlttes mpfnvaegke vlllvhnlpq
       61 qlfgyswykg ervdgnrqiv gyaigtqqat pgpansgret iypnaslliq nvtqndtgfy
      121 tlqviksdlv neeatgqfhv ypelpkpsis snnsnpvedk davaftcepe tqdttylwwi
      181 nnqslpvspr lqlsngnrtl tllsvtrndt gpyeceiqnp vsanrsdpvt lnvtygpdtp
      241 tispsdtyyr pganlslscy aasnppaqys wlingtfqqs tqelfipnit vnnsgsytch
      301 annsvtgcnr ttvktiivte spvlgedeav pgqhhpqhkp cqeggcwdvl v
//
LOCUS       XP_054197133            1493 aa            linear   PRI 20-MAR-2023
DEFINITION  obscurin-like protein 1 isoform X8 [Homo sapiens].
ACCESSION   XP_054197133
VERSION     XP_054197133.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341158.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1493
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1493
                     /product="obscurin-like protein 1 isoform X8"
                     /calculated_mol_wt=162705
     CDS             1..1493
                     /gene="OBSL1"
                     /coded_by="XM_054341158.1:308..4789"
                     /db_xref="GeneID:23363"
                     /db_xref="HGNC:HGNC:29092"
                     /db_xref="MIM:610991"
ORIGIN      
        1 mkassgdqgs ppcflrfprp vrvvsgaeae lkcvvlgepp pvvvwekggq qlaaserlsf
       61 padgaehgll ltaalptdag vyvcrarnaa geayaaaavt vleppasdpe lqpaerplps
      121 pgsgegapvf ltgprsqwvl rgaevvltcr agglpeptly wekdgmalde vwdsshfalq
      181 pgraedgpga slalrilaar lpdsgvyvch arnahghaqa gallqvhqpp esppadpdea
      241 papvveplkc apktfwvneg khakfrcyvm gkpepeiewh wegrpllpdr rrlmyrdrdg
      301 gfvlkvlycq akdrglyvca arnsagqtls avqlhvkepr lrftrplqdv egrehgiavl
      361 eckvpnsrip tawfredqrl lpcrkyeqie egtvrrliih rlkadddgiy lcemrgrvrt
      421 vanvtvkgpi lkrlprkldv legenavllv etleagvegr wsrdgeelpv icqsssghmh
      481 alvlpgvtre dagevtfslg nsrtttllrv kcvkhsppgp pilaemfkgh kntvlltwkp
      541 pepapetpfi yrlerqevgs edwiqcfsie kagavevpgd cvpsegdyrf rictvsghgr
      601 sphvvfhgsa hlvptarlva gledvqvydg edavfsldls tiiqgtwfln geelksnepe
      661 gqvepgalry rieqkglqhr lilhavkhqd sgalvgfscp gvqdsaalti qespvhilsp
      721 qdkvsltftt servvltcel srvdfpatwy kdgqkveese llvvkmdgrk hrlilpeakv
      781 qdsgefecrt egvsaffgvt vqdppvhivd prehvfvhai tsecvmlace vdredapvrw
      841 ykdgqevees dfvvlenegp hrrlvlpatq psdggefqcv agdecayftv titdvsswiv
      901 ypsgkvyvaa vrlervvltc elcrpwaevr wtkdgeevve spalllqked tvrrlvlpav
      961 qledsgeylc eiddesasft vtvteppvri iyprdevtli avtlecvvlm celsredapv
     1021 rwykdgleve esealvlerd gprcrlvlpa aqpedggefv cdagddsaff tvtvtapper
     1081 ivhpaarsld lhfgapgrve lrcevapags qvrwykdgle veasdalqlg aegptrtltl
     1141 phaqpedage yvcetrheai tfnvilaepp vqflalettp splcvapgep vvlscelsra
     1201 gapvvwshng rpvqegegle lhaegprrvl ciqaagpaha glytcqsgaa pgapslsftv
     1261 qvaeppvrvv apeaaqtrvr stpggdlelv vhlsgpggpv rwykdgerla sqgrvqleqa
     1321 garqvlrvqg arsgdageyl cdapqdsrif lvsveepllv klvsdltplt vhegddatfr
     1381 cevsppdadv twlrngavvt pgpqrqsccs yggcrmcgqr kartcvskwr qaewvqrgpc
     1441 agcevgspcp ttlacpwprm gtstasssmv sywptrapta arattiapwp gsa
//
LOCUS       XP_054197689             235 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM166C isoform X1 [Homo sapiens].
ACCESSION   XP_054197689
VERSION     XP_054197689.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341714.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..235
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..235
                     /product="protein FAM166C isoform X1"
                     /calculated_mol_wt=26207
     CDS             1..235
                     /gene="FAM166C"
                     /gene_synonym="C2orf70"
                     /coded_by="XM_054341714.1:101..808"
                     /db_xref="GeneID:339778"
                     /db_xref="HGNC:HGNC:27938"
ORIGIN      
        1 mpwvdsdlkr flaapvllvr rprpkaqgkt peevpgprph cglllwrslr hhhpqvlpgp
       61 pqqshgeeph slqprrpfph hllhqpqppa dgarqhpgpl aaqaqlhslq pgqpslhray
      121 eflpdgpaas evlsrqdghs asspllcdar egagtvppph rpvawplall ltvsqrtqra
      181 nqvvgrrgpp lcpkkkwhll rlapenlkty qtfpsgkrvs pqerkkrdcy fefra
//
LOCUS       XP_054200032             299 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Wnt-10a isoform X2 [Homo sapiens].
ACCESSION   XP_054200032
VERSION     XP_054200032.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344057.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..299
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..299
                     /product="protein Wnt-10a isoform X2"
                     /calculated_mol_wt=32602
     CDS             1..299
                     /gene="WNT10A"
                     /gene_synonym="OODD; SSPS; STHAG4"
                     /coded_by="XM_054344057.1:145..1044"
                     /db_xref="GeneID:80326"
                     /db_xref="HGNC:HGNC:13829"
                     /db_xref="MIM:606268"
ORIGIN      
        1 mgsahprpwl rlrpqpqprp alwvllffll llaaamprsa pndildlrlp pepvlnantv
       61 cltlpglsrr qmevcvrhpd vaasaiqgiq iaihecqhqf rdqrwncssl etrnkipyes
      121 pifsrgsdge haaevqvprh vrqlpaqdvl agdarvphrg gaaaqplppr hahpaaqpqr
      181 rpagagpsgg tlagsgrsra aptgqprrpg llrkvsrllr araapglggh rgppvqqeqr
      241 rlgwlrqhvl rprpqhpapd aqralplplp lvlfrglrrv phhrvgqrlq vsgpgspgp
//
LOCUS       XP_054202795             638 aa            linear   PRI 20-MAR-2023
DEFINITION  PEX5-related protein isoform X3 [Homo sapiens].
ACCESSION   XP_054202795
VERSION     XP_054202795.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346820.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..638
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..638
                     /product="PEX5-related protein isoform X3"
                     /calculated_mol_wt=70884
     CDS             1..638
                     /gene="PEX5L"
                     /gene_synonym="PEX5R; PEX5RP; PXR2; PXR2B; TRIP8b"
                     /coded_by="XM_054346820.1:189..2105"
                     /db_xref="GeneID:51555"
                     /db_xref="HGNC:HGNC:30024"
                     /db_xref="MIM:611058"
ORIGIN      
        1 mlaleissks vvlwsassgk eatasgikns gmsdsemdgr thipsllnal lsrnrvmqms
       61 ylkskeqgyg klssdedlei ivdqkqvvgv tlkkkwhclq ksdltlalgk gsraadkava
      121 mvmkeipree saeekplltm tsqlvneqqe srpllspsid dflcetksea iarpvtsnta
      181 diqtqlekwd dvkfhgdrnt kghpmaerks sssrtgskel lwssehrsqp elsggksaln
      241 sesaselelv aptqarltke hrwgsallsr nhsleeefer akaavesdte fwdkmqaewe
      301 emarrnwise nqeaqnqvti sasekgyyfh tenpfkdwpg afeeglkrlk egdlpvtilf
      361 meaailqdpg daeawqflgi tqaeneneqa aivalqrcle lqpnnlkalm alavsytntg
      421 hqqdacdalk nwikqnpkyk ylvkskkgsp gltrrmsksp vdssvlegvk elyleaahqn
      481 gdmidpdlqt glgvlfhlsg efnraidafn aaltvrpedy slwnrlgatl angdrseeav
      541 eaytraleiq pgfirsrynl giscinlgay reavsnflta lslqrksrnq qqvphpaisg
      601 niwaalrial slmdqpelfq aanlgdldvl lrafnldp
//
LOCUS       XP_054219978             564 aa            linear   PRI 20-MAR-2023
DEFINITION  netrin-G2 isoform X3 [Homo sapiens].
ACCESSION   XP_054219978
VERSION     XP_054219978.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364003.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..564
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..564
                     /product="netrin-G2 isoform X3"
                     /calculated_mol_wt=63262
     CDS             1..564
                     /gene="NTNG2"
                     /gene_synonym="bA479K20.1; LHLL9381; Lmnt2; NEDBASH;
                     NTNG1"
                     /coded_by="XM_054364003.1:891..2585"
                     /db_xref="GeneID:84628"
                     /db_xref="HGNC:HGNC:14288"
                     /db_xref="MIM:618689"
ORIGIN      
        1 mlhllalflh clplasgdyd ickswvttde gptwefyacq pkvmrlkdyv kvkvepsgit
       61 cgdpperfcs henpylcsne cdasnpdlah pprlmfdkee eglatywqsi twsrypsple
      121 anitlswnkt veltddvvmt feygrptvmv leksldngrt wqpyqfyaed cmeafgmsar
      181 rardmssssa hrvlcteeys rwagskkekh vrfevrdrfa ifagpdlrnm dnlytrlesa
      241 kglkefftlt dlrmrllrpa lggtyvqren lykyfyaisn ievigrckcn lhanlcsmre
      301 gslqcecehn ttgpdcgkck knfrtrswra gsylplphgs pnacaaagsf gtvgtpaaap
      361 apakgyklfq lkpkspqvmp ieefqdcecy ghsnrcsyid flnvvtcvsc khntrgqhcq
      421 hcrlgyyrng saelddenvc iecncnqigs vhdrcnetgf cecregaagp kcddclpthy
      481 wrqgcypnvc dddqllcqng gtclqnqrca cprgytgvrc eqprcdpadd dggldcdrap
      541 gaaprpatll gcllllglaa rlgr
//
LOCUS       NP_004184               1859 aa            linear   PRI 22-MAR-2023
DEFINITION  Golgi-specific brefeldin A-resistance guanine nucleotide exchange
            factor 1 isoform 1 [Homo sapiens].
ACCESSION   NP_004184
VERSION     NP_004184.1
DBSOURCE    REFSEQ: accession NM_004193.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1859)
  AUTHORS   Navare AT, Mast FD, Olivier JP, Bertomeu T, Neal ML, Carpp LN,
            Kaushansky A, Coulombe-Huntington J, Tyers M and Aitchison JD.
  TITLE     Viral protein engagement of GBF1 induces host cell vulnerability
            through synthetic lethality
  JOURNAL   J Cell Biol 221 (11) (2022)
   PUBMED   36305789
  REMARK    GeneRIF: Viral protein engagement of GBF1 induces host cell
            vulnerability through synthetic lethality.
REFERENCE   2  (residues 1 to 1859)
  AUTHORS   Chia J, Wang SC, Wee S, Gill DJ, Tay F, Kannan S, Verma CS,
            Gunaratne J and Bard FA.
  TITLE     Src activates retrograde membrane traffic through phosphorylation
            of GBF1
  JOURNAL   Elife 10, e68678 (2021)
   PUBMED   34870592
  REMARK    GeneRIF: Src activates retrograde membrane traffic through
            phosphorylation of GBF1.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1859)
  AUTHORS   Sager G, Szul T, Lee E, Kawai R, Presley JF and Sztul E.
  TITLE     Modeling the dynamic behaviors of the COPI vesicle formation
            regulators, the small GTPase Arf1 and its activating Sec7 guanine
            nucleotide exchange factor GBF1 on Golgi membranes
  JOURNAL   Mol Biol Cell 32 (5), 446-459 (2021)
   PUBMED   33405949
  REMARK    GeneRIF: Modeling the dynamic behaviors of the COPI vesicle
            formation regulators, the small GTPase Arf1 and its activating Sec7
            guanine nucleotide exchange factor GBF1 on Golgi membranes.
REFERENCE   4  (residues 1 to 1859)
  AUTHORS   Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW,
            Gonzaga-Jauregui C, Fuhrmann N, Holker I, Thelen MP, Zetzsche S,
            Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S,
            Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J and Wirth B.
  TITLE     De Novo and Inherited Variants in GBF1 are Associated with Axonal
            Neuropathy Caused by Golgi Fragmentation
  JOURNAL   Am J Hum Genet 107 (4), 763-777 (2020)
   PUBMED   32937143
  REMARK    GeneRIF: De Novo and Inherited Variants in GBF1 are Associated with
            Axonal Neuropathy Caused by Golgi Fragmentation.
REFERENCE   5  (residues 1 to 1859)
  AUTHORS   Dejgaard SY and Presley JF.
  TITLE     Class II Arfs require a brefeldin-A-sensitive factor for Golgi
            association
  JOURNAL   Biochem Biophys Res Commun 530 (1), 301-306 (2020)
   PUBMED   32828303
  REMARK    GeneRIF: Class II Arfs require a brefeldin-A-sensitive factor for
            Golgi association.
REFERENCE   6  (residues 1 to 1859)
  AUTHORS   Garcia-Mata R and Sztul E.
  TITLE     The membrane-tethering protein p115 interacts with GBF1, an ARF
            guanine-nucleotide-exchange factor
  JOURNAL   EMBO Rep 4 (3), 320-325 (2003)
   PUBMED   12634853
  REMARK    GeneRIF: novel interaction between p115 and Golgi-specific
            brefeldin-A-resistant factor 1 (GBF1)
REFERENCE   7  (residues 1 to 1859)
  AUTHORS   Kawamoto K, Yoshida Y, Tamaki H, Torii S, Shinotsuka C, Yamashina S
            and Nakayama K.
  TITLE     GBF1, a guanine nucleotide exchange factor for ADP-ribosylation
            factors, is localized to the cis-Golgi and involved in membrane
            association of the COPI coat
  JOURNAL   Traffic 3 (7), 483-495 (2002)
   PUBMED   12047556
  REMARK    GeneRIF: detailed subcellular localization to the cis-Golgi
REFERENCE   8  (residues 1 to 1859)
  AUTHORS   Verhoeven K, Villanova M, Rossi A, Malandrini A, De Jonghe P and
            Timmerman V.
  TITLE     Localization of the gene for the intermediate form of
            Charcot-Marie-Tooth to chromosome 10q24.1-q25.1
  JOURNAL   Am J Hum Genet 69 (4), 889-894 (2001)
   PUBMED   11533914
REFERENCE   9  (residues 1 to 1859)
  AUTHORS   Kirchhausen T.
  TITLE     Three ways to make a vesicle
  JOURNAL   Nat Rev Mol Cell Biol 1 (3), 187-198 (2000)
   PUBMED   11252894
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol 2001 Mar;2(3):216]
REFERENCE   10 (residues 1 to 1859)
  AUTHORS   Mansour SJ, Herbrick JA, Scherer SW and Melancon P.
  TITLE     Human GBF1 is a ubiquitously expressed gene of the sec7 domain
            family mapping to 10q24
  JOURNAL   Genomics 54 (2), 323-327 (1998)
   PUBMED   9828135
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL160011.35, AL356420.14 and
            AL121928.13.
            
            Summary: This gene encodes a member of the Sec7 domain family. The
            encoded protein is a guanine nucleotide exchange factor that
            regulates the recruitment of proteins to membranes by mediating GDP
            to GTP exchange. The encoded protein is localized to the Golgi
            apparatus and plays a role in vesicular trafficking by activating
            ADP ribosylation factor 1. The encoded protein has also been
            identified as an important host factor for viral replication.
            Multiple transcript variants have been observed for this gene.
            [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.201996.1, AF068755.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1859
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.32"
     Protein         1..1859
                     /product="Golgi-specific brefeldin A-resistance guanine
                     nucleotide exchange factor 1 isoform 1"
                     /note="golgi-specific brefeldin A-resistance guanine
                     nucleotide exchange factor 1; BFA-resistant GEF 1"
                     /calculated_mol_wt=206316
     Region          1..380
                     /region_name="Interaction with RAB1B.
                     /evidence=ECO:0000269|PubMed:17429068"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92538.2)"
     Region          1..211
                     /region_name="DCB, DCB:DCB domain and DCB:HUS domain
                     interaction. /evidence=ECO:0000250|UniProtKB:Q9R1D7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92538.2)"
     Region          215..266
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92538.2)"
     Region          281..373
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92538.2)"
     Site            349
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92538.2)"
     Site            352
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92538.2)"
     Region          399..>1002
                     /region_name="COG5307"
                     /note="Guanine-nucleotide exchange factor, contains Sec7
                     domain [General function prediction only]"
                     /db_xref="CDD:227623"
     Site            507
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18088087; propagated from
                     UniProtKB/Swiss-Prot (Q92538.2)"
     Region          530..550
                     /region_name="HUS, DCB:HUS domain interaction.
                     /evidence=ECO:0000250|UniProtKB:Q9R1D7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92538.2)"
     Region          619..665
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92538.2)"
     Site            662
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92538.2)"
     Region          699..884
                     /region_name="Sec7"
                     /note="Sec7 domain; pfam01369"
                     /db_xref="CDD:426226"
     Site            order(789..796,825..838)
                     /site_type="active"
                     /note="active site/putative ARF binding site [active]"
                     /db_xref="CDD:238100"
     Region          886..1370
                     /region_name="Phosphatidylinositol-phosphate binding,
                     required for translocation to the leading edge and for
                     ARF1 activation upon GPCR signaling.
                     /evidence=ECO:0000269|PubMed:22573891"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92538.2)"
     Region          1284..1335
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92538.2)"
     Site            1298
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92538.2)"
     Site            1316
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q92538.2)"
     Site            1318
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92538.2)"
     Site            1320
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q92538.2)"
     Site            1335
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q92538.2)"
     Site            1337
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by AMPK.
                     /evidence=ECO:0000269|PubMed:18063581; propagated from
                     UniProtKB/Swiss-Prot (Q92538.2)"
     Region          1350..1370
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92538.2)"
     Region          1430..1483
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92538.2)"
     Site            1475
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q92538.2)"
     Region          1725..1808
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92538.2)"
     Site            1773
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92538.2)"
     Site            1784
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92538.2)"
     Region          <1794..1857
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..1859
                     /gene="GBF1"
                     /gene_synonym="ARF1GEF; CMT2GG; CMTDI2; CMTDIA"
                     /coded_by="NM_004193.3:261..5840"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7533.1"
                     /db_xref="GeneID:8729"
                     /db_xref="HGNC:HGNC:4181"
                     /db_xref="MIM:603698"
ORIGIN      
        1 mvdkniyiiq geinivvgai krnarwstht pldeerdpll hsfghlkevl nsitelseie
       61 pnvflrpfle virsedttgp itglaltsvn kflsyalidp thegtaegme nmadavthar
      121 fvgtdpasde vvlmkilqvl rtllltpvga hltnesvcei mqscfricfe mrlsellrks
      181 aehtlvdmvq llftrlpqfk eepknyvgtn mkklkmragg msdsskwkkq krsprpprhm
      241 tkvtpgselp tpngttlssn ltggmpfidv ptpissasse aasavvspst dsglefssqt
      301 tskedltdle qpgspgysta tepgsselgv peqpdlqegt hveksqsasv esipevleec
      361 tspadhsdsa svhdmdyvnp rgvrftqssq kegtalvpyg lpcirelfrf lisltnphdr
      421 hnsevmihmg lhlltvales apvaqcqtll glikdemcrh lfqllsierl nlyaaslrvc
      481 fllfesmreh lkfqmemyik klmeiitven pkmpyemkem aleaivqlwr ipsfvtelyi
      541 nydcdyycsn lfeeltklls knafpvsgql ytthllslda lltvidstea hcqakvlnsl
      601 tqqekketar psceivdgtr easntertas dgkavgmasd ipglhlpggg rlppehgksg
      661 csdleeavds gadkkfarkp prfscllpdp relieiknkk kllitgteqf nqkpkkgiqf
      721 lqekglltip mdntevaqwl renprldkkm igefvsdrkn idllesfvst fsfqglrlde
      781 alrlyleafr lpgeapviqr lleafterwm ncngspfans dacfslayav imlntdqhnh
      841 nvrkqnapmt leefrknlkg vnggkdfeqd iledmyhaik neeivmpeeq tglvrenyvw
      901 nvllhrgatp egiflrvpta sydldlftmt wgptiaalsy vfdksleeti iqkaisgfrk
      961 camisahygl sdvfdnliis lckftalsse sienlpsvfg snpkahiaak tvfhlahrhg
     1021 dilregwkni meamlqlfra qllpkamiev edfvdpngki slqreetpsn rgestvlsfv
     1081 swltlsgpeq ssvrgpsten qeakrvalec ikqcdpekmi teskflqles lqelmkalvs
     1141 vtpdeetyde edaafcleml lrivlenrdr vgcvwqtvrd hlyhlcvqaq dfcflverav
     1201 vgllrlairl lrreeisaqv llslrilllm kpsvlsrvsh qvayglhell ktnaanihsg
     1261 ddwatlftll ecigsgvkpp aalqatarad apdagaqsds elpsyhqndv sldrgytsds
     1321 evytdhgrpg kihrsatdad vvnsgwlvvg kddvdnskpg psrpgpspli nqysltvgld
     1381 lgphdtksll kcveslsfiv rdaahitpdn felcvktlri fveaslnggc ksqekrgksh
     1441 kydskgnrfk kkskegsmlr rprtssqhas rggqsddded egvpasyhtv slqvsqdlld
     1501 lmhtlhtraa siysswaeeq rhletggqki eadsrtlwah cwcpllqgia clccdarrqv
     1561 rmqaltylqr allvhdlqkl dalewescfn kvlfplltkl lenispadvg gmeetrmras
     1621 tllskvflqh lspllslstf aalwltildf mdkymhagss dllseaipes lknmllvmdt
     1681 aeifhsadar gggpsalwei tweridcflp hlrdelfkqt viqdpmpmep qgqkplasah
     1741 ltsaagdtrt pghppppeip selgacdfek pespraasss spgspvassp srlsptpdgp
     1801 pplaqpplil qplasplqvg vppmtlpiil npalieatsp vpllatprpt dpiptsevn
//
LOCUS       NP_001349106            1043 aa            linear   PRI 10-APR-2023
DEFINITION  hamartin isoform 5 [Homo sapiens].
ACCESSION   NP_001349106 XP_016870588
VERSION     NP_001349106.1
DBSOURCE    REFSEQ: accession NM_001362177.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1043)
  AUTHORS   Trpkov K.
  TITLE     TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a
            Heterogeneous Clinicopathologic Spectrum : Several Distinct
            Entities or a Tumor Family?
  JOURNAL   Am J Surg Pathol 47 (4), 518-519 (2023)
   PUBMED   36727758
  REMARK    GeneRIF: TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a
            Heterogeneous Clinicopathologic Spectrum : Several Distinct
            Entities or a Tumor Family?
REFERENCE   2  (residues 1 to 1043)
  AUTHORS   Tjota MY, Sharma A, Wanjari P, Fitzpatrick C, Segal J and Antic T.
  TITLE     TSC/MTOR mutated renal cell carcinoma with leiomyomatous stroma is
            a distinct entity: a comprehensive study of 12 cases
  JOURNAL   Hum Pathol 134, 124-133 (2023)
   PUBMED   36592877
  REMARK    GeneRIF: TSC/MTOR mutated renal cell carcinoma with leiomyomatous
            stroma is a distinct entity: a comprehensive study of 12 cases.
            Review article
REFERENCE   3  (residues 1 to 1043)
  AUTHORS   Ryu S, Kang HC, Lee SC, Byeon SH, Kim SS and Lee CS.
  TITLE     Refractive Errors, Retinal Findings, and Genotype of Tuberous
            Sclerosis Complex: A Retrospective Cohort Study
  JOURNAL   Yonsei Med J 64 (2), 133-138 (2023)
   PUBMED   36719021
  REMARK    GeneRIF: Refractive Errors, Retinal Findings, and Genotype of
            Tuberous Sclerosis Complex: A Retrospective Cohort Study.
REFERENCE   4  (residues 1 to 1043)
  AUTHORS   Huang J and Manning BD.
  TITLE     The TSC1-TSC2 complex: a molecular switchboard controlling cell
            growth
  JOURNAL   Biochem J 412 (2), 179-190 (2008)
   PUBMED   18466115
  REMARK    Review article
REFERENCE   5  (residues 1 to 1043)
  AUTHORS   Huang J, Dibble CC, Matsuzaki M and Manning BD.
  TITLE     The TSC1-TSC2 complex is required for proper activation of mTOR
            complex 2
  JOURNAL   Mol Cell Biol 28 (12), 4104-4115 (2008)
   PUBMED   18411301
  REMARK    GeneRIF: the TSC1-TSC2 complex inhibits mTORC1 and activates
            mTORC2, which through different mechanisms promotes Akt activation
REFERENCE   6  (residues 1 to 1043)
  AUTHORS   Plank TL, Yeung RS and Henske EP.
  TITLE     Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene,
            interacts with tuberin and appears to be localized to cytoplasmic
            vesicles
  JOURNAL   Cancer Res 58 (21), 4766-4770 (1998)
   PUBMED   9809973
REFERENCE   7  (residues 1 to 1043)
  AUTHORS   van Slegtenhorst M, Nellist M, Nagelkerken B, Cheadle J, Snell R,
            van den Ouweland A, Reuser A, Sampson J, Halley D and van der
            Sluijs P.
  TITLE     Interaction between hamartin and tuberin, the TSC1 and TSC2 gene
            products
  JOURNAL   Hum Mol Genet 7 (6), 1053-1057 (1998)
   PUBMED   9580671
REFERENCE   8  (residues 1 to 1043)
  AUTHORS   Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA,
            Krawczak M, Sampson JR and Cheadle JP.
  TITLE     Molecular genetic and phenotypic analysis reveals differences
            between TSC1 and TSC2 associated familial and sporadic tuberous
            sclerosis
  JOURNAL   Hum Mol Genet 6 (12), 2155-2161 (1997)
   PUBMED   9328481
REFERENCE   9  (residues 1 to 1043)
  AUTHORS   van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B,
            Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J,
            Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R,
            Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC,
            Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer
            F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR,
            Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S and
            Kwiatkowski DJ.
  TITLE     Identification of the tuberous sclerosis gene TSC1 on chromosome
            9q34
  JOURNAL   Science 277 (5327), 805-808 (1997)
   PUBMED   9242607
REFERENCE   10 (residues 1 to 1043)
  AUTHORS   Northrup,H., Koenig,M.K., Pearson,D.A. and Au,K.S.
  TITLE     Tuberous Sclerosis Complex
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301399
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL445645.10 and N63914.1.
            On Apr 6, 2018 this sequence version replaced XP_016870588.1.
            
            Summary: This gene is a tumor suppressor gene that encodes the
            growth inhibitory protein hamartin. The encoded protein interacts
            with and stabilizes the GTPase activating protein tuberin. This
            hamartin-tuberin complex negatively regulates mammalian target of
            rapamycin complex 1 (mTORC1) signaling which is a major regulator
            of anabolic cell growth. This protein also functions as a
            co-chaperone for Hsp90 that inhibits its ATPase activity. This
            protein functions as a facilitator of Hsp90-mediated folding of
            kinase and non-kinase clients, including TSC2 and thereby
            preventing their ubiquitination and proteasomal degradation.
            Mutations in this gene have been associated with tuberous sclerosis
            and lymphangioleiomyomatosis. [provided by RefSeq, May 2022].
            
            Transcript Variant: This variant (5) lacks a 5' exon which results
            in the use of a downstream AUG compared to variant 1. The encoded
            isoform (5) is shorter and has a distinct N-terminus compared to
            isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.933319.1,
                                           SRR18074967.2440099.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1043
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13"
     Protein         1..1043
                     /product="hamartin isoform 5"
                     /note="hamartin; tuberous sclerosis 1 protein"
                     /calculated_mol_wt=116145
     Region          16..598
                     /region_name="Hamartin"
                     /note="Hamartin protein; pfam04388"
                     /db_xref="CDD:427915"
     Region          <630..>850
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1043
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /coded_by="NM_001362177.2:477..3608"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:7248"
                     /db_xref="HGNC:HGNC:12362"
                     /db_xref="MIM:605284"
ORIGIN      
        1 mdtdvvvltt gvlvlitmlp mipqsgkqhl ldffdifgrl sswclkkpgh vaevylvhlh
       61 asvyalfhrl ygmypcnfvs flrshysmke nletfeevvk pmmehvrihp elvtgskdhe
      121 ldprrwkrle thdvviecak isldpteasy edgysvshqi sarfphrsad vttspyadtq
      181 nsygcatstp ystsrlmlln mpgqlpqtls spstrlitep pqatlwspsm vcgmttppts
      241 pgnvppdlsh pyskvfgtta ggkgtplgtp atspppaplc hsddyvhisl pqatvtpprk
      301 eermdsarpc lhrqhhllnd rgseeppgsk gsvtlsdlpg flgdlaseed siekdkeeaa
      361 isrelseitt aeaepvvprg gfdspfyrds lpgsqrkths aasssqgasv npeplhssld
      421 klgpdtpkqa ftpidlpcgs adespagdre cqtsletsif tpspckippp trvgfgsgqp
      481 ppydhlfeva lpktahhfvi rkteellkka kgnteedgvp stspmevldr liqqgadahs
      541 kelnklplps ksvdwthfgg sppsdeirtl rdqllllhnq llyerfkrqq halrnrrllr
      601 kvikaaalee hnaamkdqlk lqekdiqmwk vslqkeqary nqlqeqrdtm vtklhsqirq
      661 lqhdreefyn qsqelqtkle dcrnmiaelr ielkkannkv chtelllsqv sqklsnsesv
      721 qqqmeflnrq llvlgevnel yleqlqnkhs dttkevemmk aayrkelekn rshvlqqtqr
      781 ldtsqkrile leshlakkdh llleqkkyle dvklqargql qaaesryeaq kritqvfele
      841 ildlygrlek dgllkkleee kaeaaeaaee rldccndgcs dsmvghneea sghngetktp
      901 rpssargssg srggggssss sselstpekp phqragpfss rwettmgeas asipttvgsl
      961 pssksflgmk arelfrnkse sqcdedgmts slseslktel gkdlgveaki plnldgphps
     1021 pptpdsvgql himdynethh ehs
//
LOCUS       NP_001186673             208 aa            linear   PRI 29-OCT-2022
DEFINITION  SAA2-SAA4 protein precursor [Homo sapiens].
ACCESSION   NP_001186673
VERSION     NP_001186673.1
DBSOURCE    REFSEQ: accession NM_001199744.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 208)
  AUTHORS   Wang KS, Liu XF and Aragam N.
  TITLE     A genome-wide meta-analysis identifies novel loci associated with
            schizophrenia and bipolar disorder
  JOURNAL   Schizophr Res 124 (1-3), 192-199 (2010)
   PUBMED   20889312
REFERENCE   2  (residues 1 to 208)
  AUTHORS   Prakash T, Sharma VK, Adati N, Ozawa R, Kumar N, Nishida Y,
            Fujikake T, Takeda T and Taylor TD.
  TITLE     Expression of conjoined genes: another mechanism for gene
            regulation in eukaryotes
  JOURNAL   PLoS One 5 (10), e13284 (2010)
   PUBMED   20967262
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090099.14 and BG616641.1.
            
            Summary: This locus represents naturally occurring read-through
            transcription between the neighboring serum amyloid A2 and serum
            amyloid A4 genes on chromosome 11. The read-through transcript
            produces a fusion protein that shares sequence identity with each
            individual gene product. [provided by RefSeq, Dec 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR279830.9405.1,
                                           SRR5189664.119046.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            readthrough transcript :: includes exons from GeneID 6289, 6291
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..208
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     Protein         1..208
                     /product="SAA2-SAA4 protein precursor"
                     /note="SAA2-SAA4 read-through transcript"
                     /calculated_mol_wt=21474
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1897
     Region          99..208
                     /region_name="SAA"
                     /note="Serum amyloid A proteins; smart00197"
                     /db_xref="CDD:214552"
     CDS             1..208
                     /gene="SAA2-SAA4"
                     /coded_by="NM_001199744.2:71..697"
                     /db_xref="GeneID:100528017"
                     /db_xref="HGNC:HGNC:39550"
ORIGIN      
        1 mklltglvfc slvlsvssrs ffsflgeafd gardmwrays dmreanyigs dkyfhargny
       61 daakrgpgga waaevistmr lftgivfcsl vmgvtseswr sffkealqgv gdmgraywdi
      121 misnhqnsnr ylyargnyda aqrgpggvwa aklisrsrvy lqglidcylf gnsstvleds
      181 ksnekaeewg rsgkdpdrfr pdglpkky
//
LOCUS       NP_001366295             624 aa            linear   PRI 02-DEC-2022
DEFINITION  keratin, type I cytoskeletal 10 isoform 2 [Homo sapiens].
ACCESSION   NP_001366295 XP_005257400
VERSION     NP_001366295.1
DBSOURCE    REFSEQ: accession NM_001379366.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 624)
  AUTHORS   Huang TL and Chou CC.
  TITLE     Effect of mutations on the hydrophobic interactions of the
            hierarchical molecular structure and mechanical properties of
            epithelial keratin 1/10
  JOURNAL   Int J Biol Macromol 212, 442-450 (2022)
   PUBMED   35623459
  REMARK    GeneRIF: Effect of mutations on the hydrophobic interactions of the
            hierarchical molecular structure and mechanical properties of
            epithelial keratin 1/10.
REFERENCE   2  (residues 1 to 624)
  AUTHORS   Caporali S, Didona B, Paradisi M, Mauriello A, Campione E, Falconi
            M, Iacovelli F, Minieri M, Pieri M, Bernardini S and Terrinoni A.
  TITLE     Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates
            Structural Alteration of the K1/K10 Dimer, Producing a Monolateral
            Palmar Epidermolytic Nevus
  JOURNAL   Int J Mol Sci 22 (13), 6901 (2021)
   PUBMED   34199056
  REMARK    GeneRIF: Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain
            Generates Structural Alteration of the K1/K10 Dimer, Producing a
            Monolateral Palmar Epidermolytic Nevus.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 624)
  AUTHORS   Burger B, Ghosh A, Ng CKY, Piscuoglio S, Spoerri I, Itin PH, Greer
            K and Elbaum D.
  TITLE     Discovery of heterozygous KRT10 alterations in MAUIE cases
            underlines the importance of regular skin cancer screening in
            ichthyosis with confetti
  JOURNAL   Br J Dermatol 183 (5), 954-955 (2020)
   PUBMED   32407542
  REMARK    GeneRIF: Discovery of heterozygous KRT10 alterations in MAUIE cases
            underlines the importance of regular skin cancer screening in
            ichthyosis with confetti.
REFERENCE   4  (residues 1 to 624)
  AUTHORS   Kim J and Villadsen R.
  TITLE     The Expression Pattern of Epidermal Differentiation Marker Keratin
            10 in the Normal Human Breast and Breast Cancer Cells
  JOURNAL   J Histochem Cytochem 68 (8), 561-570 (2020)
   PUBMED   32618487
  REMARK    GeneRIF: The Expression Pattern of Epidermal Differentiation Marker
            Keratin 10 in the Normal Human Breast and Breast Cancer Cells.
REFERENCE   5  (residues 1 to 624)
  AUTHORS   Takeichi T, Suga Y, Mizuno T, Okuno Y, Ichikawa D, Kono M, Lee JYW,
            McGrath JA and Akiyama M.
  TITLE     Recurrent KRT10 Variant in Ichthyosis with Confetti
  JOURNAL   Acta Derm Venereol 100 (14), adv00209 (2020)
   PUBMED   32556352
  REMARK    GeneRIF: Recurrent KRT10 Variant in Ichthyosis with Confetti.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 624)
  AUTHORS   Rasmussen HH, van Damme J, Puype M, Gesser B, Celis JE and
            Vandekerckhove J.
  TITLE     Microsequences of 145 proteins recorded in the two-dimensional gel
            protein database of normal human epidermal keratinocytes
  JOURNAL   Electrophoresis 13 (12), 960-969 (1992)
   PUBMED   1286667
REFERENCE   7  (residues 1 to 624)
  AUTHORS   Cheng J, Syder AJ, Yu QC, Letai A, Paller AS and Fuchs E.
  TITLE     The genetic basis of epidermolytic hyperkeratosis: a disorder of
            differentiation-specific epidermal keratin genes
  JOURNAL   Cell 70 (5), 811-819 (1992)
   PUBMED   1381287
REFERENCE   8  (residues 1 to 624)
  AUTHORS   Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA,
            Gagne TA, Huber M, Frenk E, Hohl D and Roop DR.
  TITLE     Mutations in the rod domains of keratins 1 and 10 in epidermolytic
            hyperkeratosis
  JOURNAL   Science 257 (5073), 1128-1130 (1992)
   PUBMED   1380725
REFERENCE   9  (residues 1 to 624)
  AUTHORS   Tkachenko AV, Buchman VL, Bliskovsky VV, Shvets YuP and Kisselev
            LL.
  TITLE     Exons I and VII of the gene (Ker10) encoding human keratin 10
            undergo structural rearrangements within repeats
  JOURNAL   Gene 116 (2), 245-251 (1992)
   PUBMED   1378806
REFERENCE   10 (residues 1 to 624)
  AUTHORS   Korge BP, Gan SQ, McBride OW, Mischke D and Steinert PM.
  TITLE     Extensive size polymorphism of the human keratin 10 chain resides
            in the C-terminal V2 subdomain due to variable numbers and sizes of
            glycine loops
  JOURNAL   Proc Natl Acad Sci U S A 89 (3), 910-914 (1992)
   PUBMED   1371013
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090283.7.
            On Mar 31, 2020 this sequence version replaced XP_005257400.1.
            
            Summary: This gene encodes a member of the type I (acidic)
            cytokeratin family, which belongs to the superfamily of
            intermediate filament (IF) proteins. Keratins are heteropolymeric
            structural proteins which form the intermediate filament. These
            filaments, along with actin microfilaments and microtubules,
            compose the cytoskeleton of epithelial cells. Mutations in this
            gene are associated with epidermolytic hyperkeratosis. This gene is
            located within a cluster of keratin family members on chromosome
            17q21. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1604711.1,
                                           SRR14038193.4378798.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..624
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     Protein         1..624
                     /product="keratin, type I cytoskeletal 10 isoform 2"
                     /note="cytokeratin 10; keratin, type I cytoskeletal 10;
                     CK-10; keratin 10, type I"
                     /calculated_mol_wt=63215
     Region          1..145
                     /region_name="Head"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6)"
     Region          1..24
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6)"
     Site            14
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P13645.6)"
     Site            16
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P13645.6)"
     Site            42
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P13645.6)"
     Site            53
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P13645.6)"
     Site            56
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P13645.6)"
     Region          145..454
                     /region_name="Filament"
                     /note="Intermediate filament protein; pfam00038"
                     /db_xref="CDD:425436"
     Region          146..181
                     /region_name="Coil 1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6)"
     Site            170
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P13645.6)"
     Region          182..202
                     /region_name="Linker 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6)"
     Region          203..294
                     /region_name="Coil 1B"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6)"
     Region          295..317
                     /region_name="Linker 12"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6)"
     Region          318..456
                     /region_name="Coil 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6)"
     CDS             1..624
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; IHL; K10; KPP"
                     /coded_by="NM_001379366.1:30..1904"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS92302.1"
                     /db_xref="GeneID:3858"
                     /db_xref="HGNC:HGNC:6413"
                     /db_xref="MIM:148080"
ORIGIN      
        1 msvryssskh ysssrsgggg ggggcggggg vsslrisssk gslgggfssg gfsggsfsrg
       61 ssgggcfggs sggygglggf gggsfrgsyg sssfggsygg ifgggsfggg sfgggsfggg
      121 gfggggfggg fgggfggdgg llsgnekvtm qnlndrlasy ldkvralees nyelegkike
      181 wyekhgnshq geprdyskyy ktiddlknqi lnlttdnani llqidnarla addfrlkyen
      241 evalrqsvea dinglrrvld eltltkadle mqieslteel aylkknheee mkdlrnvstg
      301 dvnvemnaap gvdltqllnn mrsqyeqlae qnrkdaeawf nekskeltte idnnieqiss
      361 ykseitelrr nvqaleielq sqlalkqsle aslaetegry cvqlsqiqaq isaleeqlqq
      421 iraetecqnt eyqqlldiki rleneiqtyr sllegegssg gggrgggsfg ggygggssgg
      481 gssggghggg hggssgggyg ggssgggssg ggygggsssg ghggsssggy gggssggggg
      541 gygggssggg sssgggyggg sssgghksss sgsvgesssk gprsaetswd tnktrvikti
      601 ieevapdgrv lssmvesetk khyy
//
LOCUS       NP_065939               1094 aa            linear   PRI 14-DEC-2022
DEFINITION  uncharacterized protein KIAA1522 isoform 1 [Homo sapiens].
ACCESSION   NP_065939 XP_036299
VERSION     NP_065939.2
DBSOURCE    REFSEQ: accession NM_020888.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1094)
  AUTHORS   Ou M, Chu Y, Zhang Q, Zhao H and Song Q.
  TITLE     HOXA cluster antisense RNA 2 elevates KIAA1522 expression through
            microRNA-520d-3p and insulin like growth factor 2 mRNA binding
            protein 3 to promote the growth of vascular smooth muscle cells in
            thoracic aortic aneurysm
  JOURNAL   ESC Heart Fail 9 (5), 2955-2966 (2022)
   PUBMED   35730141
  REMARK    GeneRIF: HOXA cluster antisense RNA 2 elevates KIAA1522 expression
            through microRNA-520d-3p and insulin like growth factor 2 mRNA
            binding protein 3 to promote the growth of vascular smooth muscle
            cells in thoracic aortic aneurysm.
REFERENCE   2  (residues 1 to 1094)
  AUTHORS   Wang B, Jing T, Jin W, Chen J, Wu C, Wang M and Liu Y.
  TITLE     KIAA1522 potentiates TNFalpha-NFkappaB signaling to antagonize
            platinum-based chemotherapy in lung adenocarcinoma
  JOURNAL   J Exp Clin Cancer Res 39 (1), 170 (2020)
   PUBMED   32854746
  REMARK    GeneRIF: KIAA1522 potentiates TNFalpha-NFkappaB signaling to
            antagonize platinum-based chemotherapy in lung adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1094)
  AUTHORS   Li Y, Wang Y, Fan H, Zhang Z and Li N.
  TITLE     miR-125b-5p inhibits breast cancer cell proliferation, migration
            and invasion by targeting KIAA1522
  JOURNAL   Biochem Biophys Res Commun 504 (1), 277-282 (2018)
   PUBMED   30177391
  REMARK    GeneRIF: miR-125b-5p functions as a tumor suppressor and regulates
            breast cancer cell progression through targeting KIAA1522
REFERENCE   4  (residues 1 to 1094)
  AUTHORS   Liu YZ, Yang H, Cao J, Jiang YY, Hao JJ, Xu X, Cai Y and Wang MR.
  TITLE     KIAA1522 is a novel prognostic biomarker in patients with non-small
            cell lung cancer
  JOURNAL   Sci Rep 6, 24786 (2016)
   PUBMED   27098511
  REMARK    GeneRIF: high expression of KIAA1522 can be used as an independent
            biomarker for predication of poor survival and platinum-resistance
            of NSCLC patients, and aberrant KIAA1522 might be a new target for
            the therapy of the disease.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC114489.2, AI587184.1, AB040955.1 and AL713671.1.
            On Aug 18, 2006 this sequence version replaced NP_065939.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1966682,
                              SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000401073.7/ ENSP00000383851.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1094
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.1"
     Protein         1..1094
                     /product="uncharacterized protein KIAA1522 isoform 1"
                     /calculated_mol_wt=112931
     Region          <783..1059
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..1094
                     /gene="KIAA1522"
                     /coded_by="NM_020888.3:126..3410"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS41298.1"
                     /db_xref="GeneID:57648"
                     /db_xref="HGNC:HGNC:29301"
ORIGIN      
        1 maarappaap aaeepgnpgg pprrkksrsg asglrrafsw lrgkrrkkka agaegaepaa
       61 prakkaedka krakgkgrgs akaendkhls vgpgqgpgsa vdehqdnvff psgrpphlee
      121 lhtqaqeglr slqhqekqkl nkggwdhgdt qsiqssrtgp dednisfcsq ttsyvaesst
      181 aedalsirse miqrkgstfr phdsfpksgk sgrrrrerrs tvlglpqhvq kelglrnere
      241 apgtprapga rdavriptvd grprgtsgmg arvslqalea eaeagaetea mlqrhidrvy
      301 rddtfvgrst gtrappltrp mslavpgltg gagpaeplsp amsispqaty lskliphavl
      361 pptvdvvalg rcslrtlsrc slhsaspasv rslgrfssvs spqprsrhps sssdtwshsq
      421 ssdtivsdgs tlsskggseg qpesstasns vvpppqggsg rgspsggsta easdtlsirs
      481 sgqlsgrsvs lrklkrpppp prrthslhqr glavpdgplg lppkperkqq pqlprppttg
      541 gsegagaapc ppnpanswvp glspggsrrp prspertlsp ssgyssqsgt ptlppkglag
      601 ppaspgkaqp pkpervtslr spgasvsssl tslcssssdp apsdrsgpqi ltplgdrfvi
      661 pphpkvpapf spppskprsp npaapalaap avvpgpvstt daspqspptp qttltplqes
      721 pviskdqspp pspppsyhpp ppptkkpevv veapsaseta eeplqdpnwp pppppapeeq
      781 dlsmadfppp eeaffsvasp epagpsgspe lvsspaasss satalqiqpp gspdpppapp
      841 apapassapg hvaklpqkep vgcskgggpp redvgaplvt psllqmvrlr svgapggapt
      901 palgpsapqk plrralsgra spvpapssgl haavrlkacs laaseglssa qpngppeaep
      961 rppqspasta sfifskgsrk lqlerpvspe tqadlqrnlv aelrsiseqr ppqapkkspk
     1021 apppvarkps vgvpppasps ypraepltap ptnglphtqd rtkrelaeng gvlqlvgpee
     1081 kmglpgsdsq kela
//
LOCUS       NP_660315                174 aa            linear   PRI 17-DEC-2022
DEFINITION  uncharacterized protein C17orf50 [Homo sapiens].
ACCESSION   NP_660315
VERSION     NP_660315.2
DBSOURCE    REFSEQ: accession NM_145272.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 174)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 174)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   3  (residues 1 to 174)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006237.1, DB452451.1, AY557347.1 and AI004987.1.
            On Oct 19, 2006 this sequence version replaced NP_660315.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC021727.2, BI562070.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000605587.2/ ENSP00000475146.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..174
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     Protein         1..174
                     /product="uncharacterized protein C17orf50"
                     /calculated_mol_wt=19214
     Region          1..69
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WW18.2)"
     Region          7..172
                     /region_name="DUF4637"
                     /note="Domain of unknown function (DUF4637); pfam15470"
                     /db_xref="CDD:406033"
     CDS             1..174
                     /gene="C17orf50"
                     /coded_by="NM_145272.4:56..580"
                     /db_xref="CCDS:CCDS42298.1"
                     /db_xref="GeneID:146853"
                     /db_xref="HGNC:HGNC:29581"
ORIGIN      
        1 mdkhgvktpl wkketeelra edaeqeegke gsededednq rpledsateg eepprvaeeg
       61 egrerrsvsy cplrqesstq qvallrrads gfwgwlgpla llggltaptd rkrslpeepc
      121 vleirrrppr rggcaccell fckkcrslhs hpayvahcvl dhpdlgkaga agns
//
LOCUS       NP_932327                543 aa            linear   PRI 17-DEC-2022
DEFINITION  cocaine esterase isoform 2 precursor [Homo sapiens].
ACCESSION   NP_932327
VERSION     NP_932327.2
DBSOURCE    REFSEQ: accession NM_198061.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 543)
  AUTHORS   Chen X, Liu Q, Chen Y, Wang L, Yang R, Zhang W, Pan X, Zhang S,
            Chen C, Wu T, Xia J, Cheng B, Chen X and Ren X.
  TITLE     Carboxylesterase 2 induces mitochondrial dysfunction via disrupting
            lipid homeostasis in oral squamous cell carcinoma
  JOURNAL   Mol Metab 65, 101600 (2022)
   PUBMED   36113774
  REMARK    GeneRIF: Carboxylesterase 2 induces mitochondrial dysfunction via
            disrupting lipid homeostasis in oral squamous cell carcinoma.
REFERENCE   2  (residues 1 to 543)
  AUTHORS   Shen Y, Eades W, Liu W and Yan B.
  TITLE     The COVID-19 Oral Drug Molnupiravir Is a CES2 Substrate: Potential
            Drug-Drug Interactions and Impact of CES2 Genetic Polymorphism In
            Vitro
  JOURNAL   Drug Metab Dispos 50 (9), 1151-1160 (2022)
   PUBMED   35790245
  REMARK    GeneRIF: The COVID-19 Oral Drug Molnupiravir Is a CES2 Substrate:
            Potential Drug-Drug Interactions and Impact of CES2 Genetic
            Polymorphism In Vitro.
REFERENCE   3  (residues 1 to 543)
  AUTHORS   Song YQ, Guan XQ, Weng ZM, Liu JL, Chen J, Wang L, Cui LT, Fang SQ,
            Hou J and Ge GB.
  TITLE     Discovery of hCES2A inhibitors from Glycyrrhiza inflata via
            combination of docking-based virtual screening and
            fluorescence-based inhibition assays
  JOURNAL   Food Funct 12 (1), 162-176 (2021)
   PUBMED   33291124
  REMARK    GeneRIF: Discovery of hCES2A inhibitors from Glycyrrhiza inflata
            via combination of docking-based virtual screening and
            fluorescence-based inhibition assays.
REFERENCE   4  (residues 1 to 543)
  AUTHORS   Pei J, Sun X, Yang G and Zhang S.
  TITLE     LncRNA KCNQ1OT1 ameliorates the liver injury induced by
            acetaminophen through the regulation of miR-122-5p/CES2 axis
  JOURNAL   Mol Cell Biochem 475 (1-2), 107-118 (2020)
   PUBMED   32779042
  REMARK    GeneRIF: LncRNA KCNQ1OT1 ameliorates the liver injury induced by
            acetaminophen through the regulation of miR-122-5p/CES2 axis.
REFERENCE   5  (residues 1 to 543)
  AUTHORS   Zhang Y, Sun L, Sun Y, Chen Y, Wang X, Xu M, Chi P, Xu Z and Lu X.
  TITLE     Overexpressed CES2 has prognostic value in CRC and knockdown CES2
            reverses L-OHP-resistance in CRC cells by inhibition of the PI3K
            signaling pathway
  JOURNAL   Exp Cell Res 389 (1), 111856 (2020)
   PUBMED   31981591
  REMARK    GeneRIF: Overexpressed CES2 has prognostic value in CRC and
            knockdown CES2 reverses L-OHP-resistance in CRC cells by inhibition
            of the PI3K signaling pathway.
REFERENCE   6  (residues 1 to 543)
  AUTHORS   Saito S, Iida A, Sekine A, Kawauchi S, Higuchi S, Ogawa C and
            Nakamura Y.
  TITLE     Catalog of 680 variations among eight cytochrome p450 (CYP) genes,
            nine esterase genes, and two other genes in the Japanese population
  JOURNAL   J Hum Genet 48 (5), 249-270 (2003)
   PUBMED   12721789
REFERENCE   7  (residues 1 to 543)
  AUTHORS   Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E,
            Rasquin-Weber A, Hudson TJ and Richter A.
  TITLE     A missense mutation (R565W) in cirhin (FLJ14728) in North American
            Indian childhood cirrhosis
  JOURNAL   Am J Hum Genet 71 (6), 1443-1449 (2002)
   PUBMED   12417987
REFERENCE   8  (residues 1 to 543)
  AUTHORS   Yan B, Matoney L and Yang D.
  TITLE     Human carboxylesterases in term placentae: enzymatic
            characterization, molecular cloning and evidence for the existence
            of multiple forms
  JOURNAL   Placenta 20 (7), 599-607 (1999)
   PUBMED   10452915
REFERENCE   9  (residues 1 to 543)
  AUTHORS   Pindel EV, Kedishvili NY, Abraham TL, Brzezinski MR, Zhang J, Dean
            RA and Bosron WF.
  TITLE     Purification and cloning of a broad substrate specificity human
            liver carboxylesterase that catalyzes the hydrolysis of cocaine and
            heroin
  JOURNAL   J Biol Chem 272 (23), 14769-14775 (1997)
   PUBMED   9169443
REFERENCE   10 (residues 1 to 543)
  AUTHORS   Schwer H, Langmann T, Daig R, Becker A, Aslanidis C and Schmitz G.
  TITLE     Molecular cloning and characterization of a novel putative
            carboxylesterase, present in human intestine and liver
  JOURNAL   Biochem Biophys Res Commun 233 (1), 117-120 (1997)
   PUBMED   9144407
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC032095.2 and BX538086.1.
            On Aug 23, 2018 this sequence version replaced NP_932327.1.
            
            Summary: This gene encodes a member of the carboxylesterase large
            family. The family members are responsible for the hydrolysis or
            transesterification of various xenobiotics, such as cocaine and
            heroin, and endogenous substrates with ester, thioester, or amide
            bonds. They may participate in fatty acyl and cholesterol ester
            metabolism, and may play a role in the blood-brain barrier system.
            The protein encoded by this gene is the major intestinal enzyme and
            functions in intestine drug clearance. Alternatively spliced
            transcript variants have been found for this gene.[provided by
            RefSeq, Oct 2010].
            
            Transcript Variant: This variant (2) has a shorter 5' UTR and lacks
            an internal in-frame segment in the coding region, as compared to
            variant 1. The encoded isoform (2) is thus shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX538086.1, BC098417.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..543
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     Protein         1..543
                     /product="cocaine esterase isoform 2 precursor"
                     /EC_number="3.1.1.1"
                     /EC_number="3.1.1.84"
                     /EC_number="3.1.1.56"
                     /note="intestinal carboxylesterase; liver
                     carboxylesterase-2; carboxylesterase 2 (intestine, liver);
                     cocaine esterase; methylumbelliferyl-acetate deacetylase
                     2"
                     /calculated_mol_wt=57104
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2874
     Region          30..522
                     /region_name="COesterase"
                     /note="Carboxylesterase family; pfam00135"
                     /db_xref="CDD:395084"
     Site            order(148..150,227..229,232,374,378..379,411)
                     /site_type="other"
                     /note="substrate binding pocket [chemical binding]"
                     /db_xref="CDD:238191"
     Site            order(228,345,457)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:238191"
     CDS             1..543
                     /gene="CES2"
                     /gene_synonym="CE-2; CES2A1; iCE; PCE-2"
                     /coded_by="NM_198061.3:121..1752"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS45507.2"
                     /db_xref="GeneID:8824"
                     /db_xref="HGNC:HGNC:1864"
                     /db_xref="MIM:605278"
ORIGIN      
        1 mrlhrlrarl savacgllll lvrgqgqdsa spirtthtgq vlgslvhvkg anagvqtflg
       61 ipfakpplgp lrfappeppe swsgvrdgtt hpamclqdlt aveseflsqf nmtfpsdsms
      121 edclylsiyt pahshegsnl pvmvwihgga lvfgmaslyd gsmlaalenv vvviiqyrlg
      181 vlgffstgdk hatgnwgyld qvaalrwvqq niahfggnpd rvtifgesag gtsvsslvvs
      241 pisqglfhga imesgvallp gliassadvi stvvanlsac dqvdsealvg clrgkskeei
      301 lainkpfkmi pgvvdgvflp rhpqellasa dfqpvpsivg vnnnefgwli pkvmriydtq
      361 kemdreasqa alqkmltllm lpptfgdllr eeyigdngdp qtlqaqfqem madsmfvipa
      421 lqvahfqcsr apvyfyefqh qpswlknirp phmkadhvkf teeeeqlsrk mmkywanfar
      481 ngnpngeglp hwplfdqeeq ylqlnlqpav gralkahrlq fwkkalpqki qeleepeerh
      541 tel
//
LOCUS       NP_001317959             272 aa            linear   PRI 17-DEC-2022
DEFINITION  pyridoxal kinase isoform 2 [Homo sapiens].
ACCESSION   NP_001317959 XP_005261255
VERSION     NP_001317959.1
DBSOURCE    REFSEQ: accession NM_001331030.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 272)
  AUTHORS   Tan W, Liu B and Ling H.
  TITLE     [Pyridoxal kinase (PDXK) promotes the proliferation of serous
            ovarian cancer cells and is associated with poor prognosis]
  JOURNAL   Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 36 (6), 542-548 (2020)
   PUBMED   32696745
  REMARK    GeneRIF: [Pyridoxal kinase (PDXK) promotes the proliferation of
            serous ovarian cancer cells and is associated with poor prognosis].
REFERENCE   2  (residues 1 to 272)
  AUTHORS   Mascolo E, Barile A, Mecarelli LS, Amoroso N, Merigliano C, Massimi
            A, Saggio I, Hansen T, Tramonti A, Di Salvo ML, Barbetti F,
            Contestabile R and Verni F.
  TITLE     The expression of four pyridoxal kinase (PDXK) human variants in
            Drosophila impacts on genome integrity
  JOURNAL   Sci Rep 9 (1), 14188 (2019)
   PUBMED   31578392
  REMARK    GeneRIF: The expression of four pyridoxal kinase (PDXK) human
            variants in Drosophila impacts on genome integrity.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 272)
  AUTHORS   Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN,
            Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu
            YT, Tribollet E, Haridy NA, Botia JA, Ryten M, Nicolaou P, Minaidou
            A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque
            P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani
            M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE,
            Boycott KM, Mills PB, Clayton PT and Houlden H.
  CONSRTM   Care4Rare Canada Consortium and the SYNaPS Study Group
  TITLE     PDXK mutations cause polyneuropathy responsive to pyridoxal
            5'-phosphate supplementation
  JOURNAL   Ann Neurol 86 (2), 225-240 (2019)
   PUBMED   31187503
REFERENCE   4  (residues 1 to 272)
  AUTHORS   Dolina S, Margalit D, Malitsky S, Pressman E and Rabinkov A.
  TITLE     Epilepsy as a pyridoxine-dependent condition: quantified urinary
            biomarkers for status evaluation and monitoring antiepileptic
            treatment
  JOURNAL   Med Hypotheses 79 (2), 157-164 (2012)
   PUBMED   22647618
  REMARK    GeneRIF: The affected pyridoxine metabolism is discussed as an
            inborn genetic trait in epilepsy in general, rather than a specific
            sign of pyridoxine-dependent epilepsy solely.
REFERENCE   5  (residues 1 to 272)
  AUTHORS   Oshikawa M, Tsutsui C, Ikegami T, Fuchida Y, Matsubara M, Toyama S,
            Usami R, Ohtoko K and Kato S.
  TITLE     Full-length transcriptome analysis of human retina-derived cell
            lines ARPE-19 and Y79 using the vector-capping method
  JOURNAL   Invest Ophthalmol Vis Sci 52 (9), 6662-6670 (2011)
   PUBMED   21697133
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 272)
  AUTHORS   Hanna MC, Turner AJ and Kirkness EF.
  TITLE     Human pyridoxal kinase. cDNA cloning, expression, and modulation by
            ligands of the benzodiazepine receptor
  JOURNAL   J Biol Chem 272 (16), 10756-10760 (1997)
   PUBMED   9099727
REFERENCE   7  (residues 1 to 272)
  AUTHORS   Laine-Cessac P and Allain P.
  TITLE     Kinetic studies of the effects of K+, Na+ and Li+ on the catalytic
            activity of human erythrocyte pyridoxal kinase
  JOURNAL   Enzyme Protein 49 (5-6), 291-304 (1996)
   PUBMED   9252787
REFERENCE   8  (residues 1 to 272)
  AUTHORS   Zhang Z, Smith E, Surowiec SM, Merrill AH Jr and McCormick DB.
  TITLE     Synthesis of N-(4'-pyridoxyl)sphingosine and its uptake and
            metabolism by isolated cells
  JOURNAL   Membr Biochem 10 (1), 53-59 (1993)
   PUBMED   8510562
REFERENCE   9  (residues 1 to 272)
  AUTHORS   Merrill,A.H. Jr., Henderson,J.M., Wang,E., McDonald,B.W. and
            Millikan,W.J.
  TITLE     Metabolism of vitamin B-6 by human liver
  JOURNAL   J Nutr 114 (9), 1664-1674 (1984)
   PUBMED   6088736
REFERENCE   10 (residues 1 to 272)
  AUTHORS   Chern,C.J. and Beutler,E.
  TITLE     Biochemical and electrophoretic studies of erythrocyte pyridoxine
            kinase in white and black Americans
  JOURNAL   Am J Hum Genet 28 (1), 9-17 (1976)
   PUBMED   2009
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001052.1 and AP001053.1.
            On Sep 3, 2016 this sequence version replaced XP_005261255.1.
            
            Summary: The protein encoded by this gene phosphorylates vitamin
            B6, a step required for the conversion of vitamin B6 to
            pyridoxal-5-phosphate, an important cofactor in intermediary
            metabolism. The encoded protein is cytoplasmic and probably acts as
            a homodimer. Alternatively spliced transcript variants have been
            described, but their biological validity has not been determined.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.116121.1,
                                           SRR5189667.253930.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142363
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..272
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..272
                     /product="pyridoxal kinase isoform 2"
                     /EC_number="2.7.1.35"
                     /note="pyridoxine kinase; pyridoxal (pyridoxine, vitamin
                     B6) kinase; pyridoxamine kinase; vitamin B6 kinase;
                     epididymis secretory sperm binding protein Li 1a"
                     /calculated_mol_wt=30507
     Region          8..264
                     /region_name="ribokinase_pfkB_like"
                     /note="ribokinase/pfkB superfamily: Kinases that accept a
                     wide variety of substrates, including carbohydrates and
                     aromatic small molecules, all are phosphorylated at a
                     hydroxyl group. The superfamily includes ribokinase,
                     fructokinase, ketohexokinase; cl00192"
                     /db_xref="CDD:444735"
     Site            order(73,78,108,110,113,146..147,168,183,185..186,190,
                     193..195,197,223,227)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:238578"
     CDS             1..272
                     /gene="PDXK"
                     /gene_synonym="C21orf124; C21orf97; HEL-S-1a; HMSN6C; PKH;
                     PNK; PRED79"
                     /coded_by="NM_001331030.2:66..884"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS82679.1"
                     /db_xref="GeneID:8566"
                     /db_xref="HGNC:HGNC:8819"
                     /db_xref="MIM:179020"
ORIGIN      
        1 mgrsrppgya hwkgqvlnsd elqelyeglr lnnmnkydyv ltgytrdksf lamvvdivqe
       61 lkqqnprlvy vcdpvlgdkw dgegsmyvpe dllpvykekv vpladiitpn qfeaellsgr
      121 kihsqeealr vmdmlhsmgp dtvvitssdl pspqgsnyli vlgsqrrrnp agsvvmerir
      181 mdirkvdavf vgtgdlfaam llawthkhpn nlkvacektv stlhhvlqrt iqcakaqage
      241 gvrpspmqle lrmvqskrdi edpeivvqat vl
//
LOCUS       NP_001340571             359 aa            linear   PRI 17-DEC-2022
DEFINITION  NAD kinase isoform 4 [Homo sapiens].
ACCESSION   NP_001340571 XP_006710901
VERSION     NP_001340571.1
DBSOURCE    REFSEQ: accession NM_001353642.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 359)
  AUTHORS   Schild T, McReynolds MR, Shea C, Low V, Schaffer BE, Asara JM,
            Piskounova E, Dephoure N, Rabinowitz JD, Gomes AP and Blenis J.
  TITLE     NADK is activated by oncogenic signaling to sustain pancreatic
            ductal adenocarcinoma
  JOURNAL   Cell Rep 35 (11), 109238 (2021)
   PUBMED   34133937
  REMARK    GeneRIF: NADK is activated by oncogenic signaling to sustain
            pancreatic ductal adenocarcinoma.
REFERENCE   2  (residues 1 to 359)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 359)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 359)
  AUTHORS   Hoxhaj G, Ben-Sahra I, Lockwood SE, Timson RC, Byles V, Henning GT,
            Gao P, Selfors LM, Asara JM and Manning BD.
  TITLE     Direct stimulation of NADP+ synthesis through Akt-mediated
            phosphorylation of NAD kinase
  JOURNAL   Science 363 (6431), 1088-1092 (2019)
   PUBMED   30846598
  REMARK    GeneRIF: These data indicate that Akt-mediated phosphorylation of
            NADK stimulates its activity to increase NADP(+) production through
            relief of an autoinhibitory function inherent to its amino
            terminus.
REFERENCE   5  (residues 1 to 359)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (residues 1 to 359)
  AUTHORS   Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H,
            Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff
            S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksoz E, Droege A,
            Krobitsch S, Korn B, Birchmeier W, Lehrach H and Wanker EE.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
REFERENCE   7  (residues 1 to 359)
  AUTHORS   Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S,
            Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett
            JR, Langeberg LK, Scott JD and Pawson T.
  TITLE     Proteomic, functional, and domain-based analysis of in vivo 14-3-3
            binding proteins involved in cytoskeletal regulation and cellular
            organization
  JOURNAL   Curr Biol 14 (16), 1436-1450 (2004)
   PUBMED   15324660
REFERENCE   8  (residues 1 to 359)
  AUTHORS   Meek SE, Lane WS and Piwnica-Worms H.
  TITLE     Comprehensive proteomic analysis of interphase and mitotic
            14-3-3-binding proteins
  JOURNAL   J Biol Chem 279 (31), 32046-32054 (2004)
   PUBMED   15161933
REFERENCE   9  (residues 1 to 359)
  AUTHORS   Magni G, Amici A, Emanuelli M, Orsomando G, Raffaelli N and
            Ruggieri S.
  TITLE     Enzymology of NAD+ homeostasis in man
  JOURNAL   Cell Mol Life Sci 61 (1), 19-34 (2004)
   PUBMED   14704851
  REMARK    Review article
REFERENCE   10 (residues 1 to 359)
  AUTHORS   Lerner F, Niere M, Ludwig A and Ziegler M.
  TITLE     Structural and functional characterization of human NAD kinase
  JOURNAL   Biochem Biophys Res Commun 288 (1), 69-74 (2001)
   PUBMED   11594753
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL031282.1.
            On Jul 20, 2017 this sequence version replaced XP_006710901.1.
            
            Summary: NADK catalyzes the transfer of a phosphate group from ATP
            to NAD to generate NADP, which in its reduced form acts as an
            electron donor for biosynthetic reactions (Lerner et al., 2001
            [PubMed 11594753]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (6) uses and alternate splice site
            which results in the use of an alternate start codon compared to
            variant 1. The encoded isoform (4) has a shorter and distinct
            N-terminus compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.1330970.1,
                                           SRR14038193.4029091.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..359
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     Protein         1..359
                     /product="NAD kinase isoform 4"
                     /EC_number="2.7.1.23"
                     /note="poly(P)/ATP NAD kinase"
                     /calculated_mol_wt=39513
     Region          <9..346
                     /region_name="pnk"
                     /note="bifunctional NADP phosphatase/NAD kinase; cl28462"
                     /db_xref="CDD:333282"
     CDS             1..359
                     /gene="NADK"
                     /gene_synonym="dJ283E3.1"
                     /coded_by="NM_001353642.2:545..1624"
                     /note="isoform 4 is encoded by transcript variant 6"
                     /db_xref="GeneID:65220"
                     /db_xref="HGNC:HGNC:29831"
                     /db_xref="MIM:611616"
ORIGIN      
        1 mhiqdpasqr ltwnkspksv lvikkmrdas llqpfkelct hlmeenmivy vekkvledpa
       61 iasdesfgav kkkfctfred yddisnqidf iiclggdgtl lyasslfqgs vppvmafhlg
      121 slgfltpfsf enfqsqvtqv iegnaavvlr srlkvrvvke lrgkktavhn glgengsqaa
      181 gldmdvgkqa mqyqvlnevv idrgpssyls nvdvyldghl ittvqgdgvi vstptgstay
      241 aaaagasmih pnvpaimitp icphslsfrp ivvpagvelk imlspearnt awvsfdgrkr
      301 qeirhgdsis ittscyplps icvrdpvsdw feslaqclhw nvrkkqahfe eeeeeeeeg
//
LOCUS       NP_079422                169 aa            linear   PRI 18-DEC-2022
DEFINITION  N-alpha-acetyltransferase 50 isoform 1 [Homo sapiens].
ACCESSION   NP_079422
VERSION     NP_079422.1
DBSOURCE    REFSEQ: accession NM_025146.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 169)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 169)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (residues 1 to 169)
  AUTHORS   Reddi R, Saddanapu V, Chinthapalli DK, Sankoju P, Sripadi P and
            Addlagatta A.
  TITLE     Human Naa50 Protein Displays Broad Substrate Specificity for
            Amino-terminal Acetylation: DETAILED STRUCTURAL AND BIOCHEMICAL
            ANALYSIS USING TETRAPEPTIDE LIBRARY
  JOURNAL   J Biol Chem 291 (39), 20530-20538 (2016)
   PUBMED   27484799
  REMARK    GeneRIF: Because Naa10 is reported to acetylate all amino termini
            that are devoid of methionine and Naa50 acetylates all other
            peptides that are followed by methionine
REFERENCE   4  (residues 1 to 169)
  AUTHORS   Rong Z, Ouyang Z, Magin RS, Marmorstein R and Yu H.
  TITLE     Opposing Functions of the N-terminal Acetyltransferases Naa50 and
            NatA in Sister-chromatid Cohesion
  JOURNAL   J Biol Chem 291 (36), 19079-19091 (2016)
   PUBMED   27422821
  REMARK    GeneRIF: co-depletion of NatA, a heterodimeric NAT complex that
            physically interacts with Naa50, rescues the sister-chromatid
            cohesion defects and the resulting mitotic arrest caused by Naa50
            depletion, indicating that NatA and Naa50 play antagonistic roles
            in cohesion.
REFERENCE   5  (residues 1 to 169)
  AUTHORS   Van Damme P, Hole K, Gevaert K and Arnesen T.
  TITLE     N-terminal acetylome analysis reveals the specificity of Naa50
            (Nat5) and suggests a kinetic competition between N-terminal
            acetyltransferases and methionine aminopeptidases
  JOURNAL   Proteomics 15 (14), 2436-2446 (2015)
   PUBMED   25886145
  REMARK    GeneRIF: The study quantitatively compared the Nt-acetylomes of
            wild-type yeast S. cerevisiae expressing the endogenous yeast Naa50
            (yNaa50), the congenic strain lacking yNaa50, and an otherwise
            identical strain expressing human Naa50 (hNaa50).
REFERENCE   6  (residues 1 to 169)
  AUTHORS   Starheim KK, Gromyko D, Evjenth R, Ryningen A, Varhaug JE,
            Lillehaug JR and Arnesen T.
  TITLE     Knockdown of human N alpha-terminal acetyltransferase complex C
            leads to p53-dependent apoptosis and aberrant human Arl8b
            localization
  JOURNAL   Mol Cell Biol 29 (13), 3569-3581 (2009)
   PUBMED   19398576
  REMARK    GeneRIF: Data show that with MAK3 knockdown, p53 is stabilized and
            phosphorylated and there is a significant transcriptional
            activation of proapoptotic genes downstream of p53, and that
            localization of Arl8b is altered, suggesting that Arl8b is a Mak3
            substrate.
REFERENCE   7  (residues 1 to 169)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   8  (residues 1 to 169)
  AUTHORS   Hou F, Chu CW, Kong X, Yokomori K and Zou H.
  TITLE     The acetyltransferase activity of San stabilizes the mitotic
            cohesin at the centromeres in a shugoshin-independent manner
  JOURNAL   J Cell Biol 177 (4), 587-597 (2007)
   PUBMED   17502424
  REMARK    GeneRIF: May be specifically required for the maintenance of
            centromeric cohesion in mitosis.
REFERENCE   9  (residues 1 to 169)
  AUTHORS   Arnesen T, Anderson D, Torsvik J, Halseth HB, Varhaug JE and
            Lillehaug JR.
  TITLE     Cloning and characterization of hNAT5/hSAN: an evolutionarily
            conserved component of the NatA protein N-alpha-acetyltransferase
            complex
  JOURNAL   Gene 371 (2), 291-295 (2006)
   PUBMED   16507339
  REMARK    GeneRIF: The first description of the human homologue of Nat5p/San,
            hNAT5, the third component of the human NatA
            N-alpha-acetyltransferase complex
REFERENCE   10 (residues 1 to 169)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM831426.1, BC012731.2, DB198553.1, DB096143.1, DA408894.1,
            DA599265.1, HX784836.1, AW954963.1, H15889.1, H39948.1, BX102492.1
            and AC108693.5.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK023256.1, SRR1803612.19842.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000240922.8/ ENSP00000240922.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..169
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.31"
     Protein         1..169
                     /product="N-alpha-acetyltransferase 50 isoform 1"
                     /EC_number="2.3.1.258"
                     /note="N-acetyltransferase 5; N-acetyltransferase 13
                     (GCN5-related); N-acetyltransferase san homolog; natE
                     catalytic subunit; N-epsilon-acetyltransferase 50"
                     /calculated_mol_wt=19267
     Region          10..145
                     /region_name="RimI"
                     /note="Ribosomal protein S18 acetylase RimI and related
                     acetyltransferases [Translation, ribosomal structure and
                     biogenesis]; COG0456"
                     /db_xref="CDD:223532"
     Site            12
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9GZZ1.1)"
     Site            34
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; N6-acetyllysine, by
                     autocatalysis. /evidence=ECO:0000269|PubMed:19744929,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9GZZ1.1)"
     Site            37
                     /site_type="acetylation"
                     /note="N6-acetyllysine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:19744929,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9GZZ1.1)"
     Site            110
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (Q9GZZ1.1)"
     Site            140
                     /site_type="acetylation"
                     /note="N6-acetyllysine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:19744929; propagated from
                     UniProtKB/Swiss-Prot (Q9GZZ1.1)"
     CDS             1..169
                     /gene="NAA50"
                     /gene_synonym="hNaa50p; MAK3; NAT13; NAT13P; NAT5; NAT5P;
                     SAN"
                     /coded_by="NM_025146.4:301..810"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2975.1"
                     /db_xref="GeneID:80218"
                     /db_xref="HGNC:HGNC:29533"
                     /db_xref="MIM:610834"
ORIGIN      
        1 mkgsrielgd vtphnikqlk rlnqvifpvs yndkfykdvl evgelaklay fndiavgavc
       61 crvdhsqnqk rlyimtlgcl apyrrlgigt kmlnhvlnic ekdgtfdniy lhvqisnesa
      121 idfyrkfgfe iietkknyyk riepadahvl qknlkvpsgq nadvqktdn
//
LOCUS       NP_569059                318 aa            linear   PRI 18-DEC-2022
DEFINITION  ankyrin repeat and SOCS box protein 12 [Homo sapiens].
ACCESSION   NP_569059
VERSION     NP_569059.3
DBSOURCE    REFSEQ: accession NM_130388.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 318)
  AUTHORS   Kohroki J, Nishiyama T, Nakamura T and Masuho Y.
  TITLE     ASB proteins interact with Cullin5 and Rbx2 to form E3 ubiquitin
            ligase complexes
  JOURNAL   FEBS Lett 579 (30), 6796-6802 (2005)
   PUBMED   16325183
REFERENCE   2  (residues 1 to 318)
  AUTHORS   Kile BT, Schulman BA, Alexander WS, Nicola NA, Martin HM and Hilton
            DJ.
  TITLE     The SOCS box: a tale of destruction and degradation
  JOURNAL   Trends Biochem Sci 27 (5), 235-241 (2002)
   PUBMED   12076535
  REMARK    Review article
REFERENCE   3  (residues 1 to 318)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK096896.1, BC069555.1 and
            AA349954.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 29, 2011 this sequence version replaced NP_569059.2.
            
            Summary: The protein encoded by this gene is a member of the
            ankyrin repeat and SOCS box-containing (ASB) family of proteins.
            They contain ankyrin repeat sequence and a SOCS box domain. The
            SOCS box serves to couple suppressor of cytokine signalling (SOCS)
            proteins and their binding partners with the elongin B and C
            complex, possibly targeting them for degradation. [provided by
            RefSeq, Jan 2011].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK096896.1, SRR5189655.143303.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151741, SAMEA2154361
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000362002.3/ ENSP00000355195.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..318
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq11.2"
     Protein         1..318
                     /product="ankyrin repeat and SOCS box protein 12"
                     /note="ankyrin repeat domain-containing SOCS box protein
                     Asb-12"
                     /calculated_mol_wt=34865
     Region          39..>258
                     /region_name="PHA02875"
                     /note="ankyrin repeat protein; Provisional"
                     /db_xref="CDD:165206"
     Region          75..103
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          77..168
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Site            order(78..79,82..84,86..87,91,94,103,105,107,111..112,
                     115..117,119..120,124,127,136,138,140,144..145,148..150,
                     152..153,157,160)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          105..136
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          138..168
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          182..208
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          276..315
                     /region_name="SOCS_box"
                     /note="SOCS box; pfam07525"
                     /db_xref="CDD:429513"
     Site            order(276..281,287,298,304)
                     /site_type="active"
                     /note="elongin B/C interaction [active]"
                     /db_xref="CDD:239641"
     CDS             1..318
                     /gene="ASB12"
                     /coded_by="NM_130388.4:170..1126"
                     /db_xref="CCDS:CCDS14378.2"
                     /db_xref="GeneID:142689"
                     /db_xref="HGNC:HGNC:19763"
                     /db_xref="MIM:300891"
ORIGIN      
        1 mrivlqlakm nlmditkifs llqpdkeeed tdteekqaln qavydndsyt ldqllrqery
       61 krfinsrsgw gvpgtplrla asyghlsclq vllahgadvd sldvkaqtpl ftavshghld
      121 cvrvlleaga spggsiynnc spvltaardg availqelld hgaeanvkak lpvwasnias
      181 csgplylaav yghldcfrll llhgadpdyn ctdqgllarv prprtlleic lhhncepeyi
      241 qllidfgani ylpslsldlt sqddkgiall lqaratprsl lsqvrlvvrr alcqagqpqa
      301 inqldippml isylkhql
//
LOCUS       NP_001336339             434 aa            linear   PRI 18-DEC-2022
DEFINITION  PEX5-related protein isoform 8 [Homo sapiens].
ACCESSION   NP_001336339 XP_016862100
VERSION     NP_001336339.1
DBSOURCE    REFSEQ: accession NM_001349410.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 434)
  AUTHORS   Chen AS, Liu H, Wu Y, Luo S, Patz EF Jr, Glass C, Su L, Du M,
            Christiani DC and Wei Q.
  TITLE     Genetic variants in DDO and PEX5L in peroxisome-related pathways
            predict non-small cell lung cancer survival
  JOURNAL   Mol Carcinog 61 (7), 619-628 (2022)
   PUBMED   35502931
  REMARK    GeneRIF: Genetic variants in DDO and PEX5L in peroxisome-related
            pathways predict non-small cell lung cancer survival.
REFERENCE   2  (residues 1 to 434)
  AUTHORS   Lyman KA, Han Y, Heuermann RJ, Cheng X, Kurz JE, Lyman RE, Van
            Veldhoven PP and Chetkovich DM.
  TITLE     Allostery between two binding sites in the ion channel subunit
            TRIP8b confers binding specificity to HCN channels
  JOURNAL   J Biol Chem 292 (43), 17718-17730 (2017)
   PUBMED   28887304
  REMARK    GeneRIF: allosteric coupling of the TRIP8b TPR domains both
            promotes binding to HCN channels and limits binding to type 1
            peroxisomal targeting signal substrates.
REFERENCE   3  (residues 1 to 434)
  AUTHORS   Bankston JR, DeBerg HA, Stoll S and Zagotta WN.
  TITLE     Mechanism for the inhibition of the cAMP dependence of HCN ion
            channels by the auxiliary subunit TRIP8b
  JOURNAL   J Biol Chem 292 (43), 17794-17803 (2017)
   PUBMED   28864772
  REMARK    GeneRIF: TRIP8b competes with a portion of the cAMP-binding site or
            distorts the binding site by making interactions with the binding
            pocket, thus acting predominantly as a competitive antagonist that
            inhibits the cyclic-nucleotide dependence of HCN channels.
REFERENCE   4  (residues 1 to 434)
  AUTHORS   Kunze M, Malkani N, Maurer-Stroh S, Wiesinger C, Schmid JA and
            Berger J.
  TITLE     Mechanistic insights into PTS2-mediated peroxisomal protein import:
            the co-receptor PEX5L drastically increases the interaction
            strength between the cargo protein and the receptor PEX7
  JOURNAL   J Biol Chem 290 (8), 4928-4940 (2015)
   PUBMED   25538232
  REMARK    GeneRIF: the sequential formation of a highly stable trimeric
            complex involving cargo protein, PEX7 and PEX5L stabilizes cargo
            binding and is a prerequisite for PTS2-mediated peroxisomal import.
REFERENCE   5  (residues 1 to 434)
  AUTHORS   Saponaro A, Pauleta SR, Cantini F, Matzapetakis M, Hammann C,
            Donadoni C, Hu L, Thiel G, Banci L, Santoro B and Moroni A.
  TITLE     Structural basis for the mutual antagonism of cAMP and TRIP8b in
            regulating HCN channel function
  JOURNAL   Proc Natl Acad Sci U S A 111 (40), 14577-14582 (2014)
   PUBMED   25197093
  REMARK    GeneRIF: Data show that Rab8b-interacting protein TRIP8b does not
            compete with cyclic AMP for the same binding region of
            hyperpolarization activated cyclic nucleotide gated potassium
            channel 2 (HCN2).
REFERENCE   6  (residues 1 to 434)
  AUTHORS   Han Y, Noam Y, Lewis AS, Gallagher JJ, Wadman WJ, Baram TZ and
            Chetkovich DM.
  TITLE     Trafficking and gating of hyperpolarization-activated cyclic
            nucleotide-gated channels are regulated by interaction with
            tetratricopeptide repeat-containing Rab8b-interacting protein
            (TRIP8b) and cyclic AMP at distinct sites
  JOURNAL   J Biol Chem 286 (23), 20823-20834 (2011)
   PUBMED   21504900
  REMARK    GeneRIF: increasing cAMP levels in cells antagonized the
            up-regulation of HCN1 channels mediated by a TRIP8b construct
            binding the CNBD exclusively.
REFERENCE   7  (residues 1 to 434)
  AUTHORS   Sim X, Ong RT, Suo C, Tay WT, Liu J, Ng DP, Boehnke M, Chia KS,
            Wong TY, Seielstad M, Teo YY and Tai ES.
  TITLE     Transferability of type 2 diabetes implicated loci in multi-ethnic
            cohorts from Southeast Asia
  JOURNAL   PLoS Genet 7 (4), e1001363 (2011)
   PUBMED   21490949
REFERENCE   8  (residues 1 to 434)
  AUTHORS   Zolles G, Wenzel D, Bildl W, Schulte U, Hofmann A, Muller CS,
            Thumfart JO, Vlachos A, Deller T, Pfeifer A, Fleischmann BK, Roeper
            J, Fakler B and Klocker N.
  TITLE     Association with the auxiliary subunit PEX5R/Trip8b controls
            responsiveness of HCN channels to cAMP and adrenergic stimulation
  JOURNAL   Neuron 62 (6), 814-825 (2009)
   PUBMED   19555650
REFERENCE   9  (residues 1 to 434)
  AUTHORS   Fransen M, Amery L, Hartig A, Brees C, Rabijns A, Mannaerts GP and
            Van Veldhoven PP.
  TITLE     Comparison of the PTS1- and Rab8b-binding properties of Pex5p and
            Pex5Rp/TRIP8b
  JOURNAL   Biochim Biophys Acta 1783 (5), 864-873 (2008)
   PUBMED   18346465
REFERENCE   10 (residues 1 to 434)
  AUTHORS   Amery L, Sano H, Mannaerts GP, Snider J, Van Looy J, Fransen M and
            Van Veldhoven PP.
  TITLE     Identification of PEX5p-related novel peroxisome-targeting signal 1
            (PTS1)-binding proteins in mammals
  JOURNAL   Biochem J 357 (Pt 3), 635-646 (2001)
   PUBMED   11463335
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092939.8 and AC007687.17.
            On Mar 15, 2017 this sequence version replaced XP_016862100.1.
            
            Transcript Variant: This variant (28), as well as variants 8 and
            22-27, encodes isoform 8.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.245209.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2157437
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.33"
     Protein         1..434
                     /product="PEX5-related protein isoform 8"
                     /note="Pex5p-related protein; PEX5-related protein;
                     PEX5-like protein; PEX2-related protein; peroxin-5-related
                     protein; peroxisome biogenesis factor 5-like;
                     tetratricopeptide repeat-containing Rab8b-interacting
                     protein; HCN channel auxiliary subunit"
                     /calculated_mol_wt=48398
     Site            order(138..139,142..143,145,169,172..173,176..177,
                     179..180,203,206..207,210..211,214)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          138..162
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          139..>369
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     Region          167..197
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          202..230
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          282..310
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(283,286..287,290..291,293,317,320..321,324..325,
                     327..328,351,354..355,358..359,362)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          315..345
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          350..378
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..434
                     /gene="PEX5L"
                     /gene_synonym="PEX5R; PEX5RP; PXR2; PXR2B; TRIP8b"
                     /coded_by="NM_001349410.2:466..1770"
                     /note="isoform 8 is encoded by transcript variant 28"
                     /db_xref="CCDS:CCDS58861.1"
                     /db_xref="GeneID:51555"
                     /db_xref="HGNC:HGNC:30024"
                     /db_xref="MIM:611058"
ORIGIN      
        1 maerkssssr tgskellwss ehrsqpelsg gksalnsesa selelvaptq arltkehrwg
       61 sallsrnhsl eeeferakaa vesdtefwdk mqaeweemar rnwisenqea qnqvtisase
      121 kgyyfhtenp fkdwpgafee glkrlkegdl pvtilfmeaa ilqdpgdaea wqflgitqae
      181 neneqaaiva lqrclelqpn nlkalmalav sytntghqqd acdalknwik qnpkykylvk
      241 skkgspgltr rmskspvdss vlegvkelyl eaahqngdmi dpdlqtglgv lfhlsgefnr
      301 aidafnaalt vrpedyslwn rlgatlangd rseeaveayt raleiqpgfi rsrynlgisc
      361 inlgayreav snfltalslq rksrnqqqvp hpaisgniwa alrialslmd qpelfqaanl
      421 gdldvllraf nldp
//
LOCUS       NP_001311332             258 aa            linear   PRI 18-DEC-2022
DEFINITION  peptidase inhibitor 15 preproprotein [Homo sapiens].
ACCESSION   NP_001311332 XP_006716516
VERSION     NP_001311332.1
DBSOURCE    REFSEQ: accession NM_001324403.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 258)
  AUTHORS   Jiang Y, Zheng X, Jiao D, Chen P, Xu Y, Wei H and Qian Y.
  TITLE     Peptidase inhibitor 15 as a novel blood diagnostic marker for
            cholangiocarcinoma
  JOURNAL   EBioMedicine 40, 422-431 (2019)
   PUBMED   30638862
  REMARK    GeneRIF: PI15 as a novel marker for predicting the diagnosis and
            follow-up of cholangiocarcinoma patients.
REFERENCE   2  (residues 1 to 258)
  AUTHORS   Prusty BK, Chowdhury SR, Gulve N and Rudel T.
  TITLE     Peptidase Inhibitor 15 (PI15) Regulates Chlamydial CPAF Activity
  JOURNAL   Front Cell Infect Microbiol 8, 183 (2018)
   PUBMED   29900129
  REMARK    GeneRIF: Human serine peptidase inhibitor PI15 as a potential host
            factor involved in the regulation of CPAF activation. Silencing
            expression as well as over expression of PI15 affected normal
            development of Chlamydia.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 258)
  AUTHORS   Melzer D, Perry JR, Hernandez D, Corsi AM, Stevens K, Rafferty I,
            Lauretani F, Murray A, Gibbs JR, Paolisso G, Rafiq S, Simon-Sanchez
            J, Lango H, Scholz S, Weedon MN, Arepalli S, Rice N, Washecka N,
            Hurst A, Britton A, Henley W, van de Leemput J, Li R, Newman AB,
            Tranah G, Harris T, Panicker V, Dayan C, Bennett A, McCarthy MI,
            Ruokonen A, Jarvelin MR, Guralnik J, Bandinelli S, Frayling TM,
            Singleton A and Ferrucci L.
  TITLE     A genome-wide association study identifies protein quantitative
            trait loci (pQTLs)
  JOURNAL   PLoS Genet 4 (5), e1000072 (2008)
   PUBMED   18464913
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 258)
  AUTHORS   Kaplan F, Ledoux P, Kassamali FQ, Gagnon S, Post M, Koehler D,
            Deimling J and Sweezey NB.
  TITLE     A novel developmentally regulated gene in lung mesenchyme: homology
            to a tumor-derived trypsin inhibitor
  JOURNAL   Am J Physiol 276 (6), L1027-L1036 (1999)
   PUBMED   10362728
REFERENCE   5  (residues 1 to 258)
  AUTHORS   Yamakawa T, Miyata S, Ogawa N, Koshikawa N, Yasumitsu H, Kanamori T
            and Miyazaki K.
  TITLE     cDNA cloning of a novel trypsin inhibitor with similarity to
            pathogenesis-related proteins, and its frequent expression in human
            brain cancer cells
  JOURNAL   Biochim Biophys Acta 1395 (2), 202-208 (1998)
   PUBMED   9473672
REFERENCE   6  (residues 1 to 258)
  AUTHORS   Koshikawa N, Nakamura T, Tsuchiya N, Isaji M, Yasumitsu H, Umeda M
            and Miyazaki K.
  TITLE     Purification and identification of a novel and four known serine
            proteinase inhibitors secreted by human glioblastoma cells
  JOURNAL   J Biochem 119 (2), 334-339 (1996)
   PUBMED   8882727
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026616.10 and AC011632.7.
            On May 3, 2016 this sequence version replaced XP_006716516.1.
            
            Summary: This gene encodes a trypsin inhibitor. The protein shares
            similarity to insect venom allergens, mammalian testis-specific
            proteins and plant pathogenesis-related proteins. It is frequently
            expressed in human neuroblastoma and glioblastoma cell lines, and
            thus may play a role in the central nervous system. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853559.31171.1,
                                           SRR14038194.1512937.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..258
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.13"
     Protein         1..258
                     /product="peptidase inhibitor 15 preproprotein"
                     /note="25 kDa trypsin inhibitor; protease inhibitor 15;
                     PI-15; CRISP-8; sugarCrisp; cysteine-rich secretory
                     protein 8"
                     /calculated_mol_wt=27144
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1939
     Site            26
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O43692.1)"
     Site            36
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O43692.1)"
     mat_peptide     61..258
                     /product="Peptidase inhibitor 15. /id=PRO_0000287623"
                     /note="propagated from UniProtKB/Swiss-Prot (O43692.1)"
                     /calculated_mol_wt=22720
     Region          67..212
                     /region_name="CAP_PI15"
                     /note="CAP (cysteine-rich secretory proteins, antigen 5,
                     and pathogenesis-related 1 proteins) domain of peptidase
                     inhibitor 15; cd18814"
                     /db_xref="CDD:349408"
     Site            124
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O43692.1)"
     CDS             1..258
                     /gene="PI15"
                     /gene_synonym="CRISP8; P24TI; P25TI"
                     /coded_by="NM_001324403.2:211..987"
                     /db_xref="CCDS:CCDS6218.1"
                     /db_xref="GeneID:51050"
                     /db_xref="HGNC:HGNC:8946"
                     /db_xref="MIM:607076"
ORIGIN      
        1 miaisavssa llfsllceas tvvllnstds spptnnftdi eaalkaqlds adipkarrkr
       61 yisqndmiai ldyhnqvrgk vfppaanmey mvwdenlaks aeawaatciw dhgpsyllrf
      121 lgqnlsvrtg ryrsilqlvk pwydevkdya fpypqdcnpr cpmrcfgpmc thytqmvwat
      181 snrigcaiht cqnmnvwgsv wrravylvcn yapkgnwige apykvgvpcs scppsyggsc
      241 tdnlcfpgvt snylywfk
//
LOCUS       NP_001265525            1003 aa            linear   PRI 18-DEC-2022
DEFINITION  anoctamin-2 isoform 1 [Homo sapiens].
ACCESSION   NP_001265525
VERSION     NP_001265525.1
DBSOURCE    REFSEQ: accession NM_001278596.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1003)
  AUTHORS   Auer F, Franco Taveras E, Klein U, Kesenheimer C, Fleischhauer D,
            Mohrlen F and Frings S.
  TITLE     Anoctamin 2-chloride channels reduce simple spike activity and
            mediate inhibition at elevated calcium concentration in cerebellar
            Purkinje cells
  JOURNAL   PLoS One 16 (3), e0247801 (2021)
   PUBMED   33651839
  REMARK    GeneRIF: Anoctamin 2-chloride channels reduce simple spike activity
            and mediate inhibition at elevated calcium concentration in
            cerebellar Purkinje cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1003)
  AUTHORS   Tengvall K, Huang J, Hellstrom C, Kammer P, Bistrom M, Ayoglu B,
            Lima Bomfim I, Stridh P, Butt J, Brenner N, Michel A, Lundberg K,
            Padyukov L, Lundberg IE, Svenungsson E, Ernberg I, Olafsson S,
            Dilthey AT, Hillert J, Alfredsson L, Sundstrom P, Nilsson P,
            Waterboer T, Olsson T and Kockum I.
  TITLE     Molecular mimicry between Anoctamin 2 and Epstein-Barr virus
            nuclear antigen 1 associates with multiple sclerosis risk
  JOURNAL   Proc Natl Acad Sci U S A 116 (34), 16955-16960 (2019)
   PUBMED   31375628
  REMARK    GeneRIF: a hypothesis where immune reactivity toward EBNA1 through
            molecular mimicry with ANO2 contributes to the etiopathogenesis of
            Multiple sclerosis.
REFERENCE   3  (residues 1 to 1003)
  AUTHORS   Sundell GN, Arnold R, Ali M, Naksukpaiboon P, Orts J, Guntert P,
            Chi CN and Ivarsson Y.
  TITLE     Proteome-wide analysis of phospho-regulated PDZ domain interactions
  JOURNAL   Mol Syst Biol 14 (8), e8129 (2018)
   PUBMED   30126976
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1003)
  AUTHORS   Pifferi S.
  TITLE     Permeation Mechanisms in the TMEM16B Calcium-Activated Chloride
            Channels
  JOURNAL   PLoS One 12 (1), e0169572 (2017)
   PUBMED   28046119
  REMARK    GeneRIF: residues facing the putative channel pore are responsible
            both for controlling the ion selectivity and the gating of the
            channel, providing an initial understanding of molecular mechanism
            of ion permeation in TMEM16B
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1003)
  AUTHORS   Ayoglu B, Mitsios N, Kockum I, Khademi M, Zandian A, Sjoberg R,
            Forsstrom B, Bredenberg J, Lima Bomfim I, Holmgren E, Gronlund H,
            Guerreiro-Cacais AO, Abdelmagid N, Uhlen M, Waterboer T, Alfredsson
            L, Mulder J, Schwenk JM, Olsson T and Nilsson P.
  TITLE     Anoctamin 2 identified as an autoimmune target in multiple
            sclerosis
  JOURNAL   Proc Natl Acad Sci U S A 113 (8), 2188-2193 (2016)
   PUBMED   26862169
  REMARK    GeneRIF: data revealed prominently increased autoantibody
            reactivity against the chloride-channel protein anoctamin 2 (ANO2)
            in multiple sclerosis cases compared with controls
REFERENCE   6  (residues 1 to 1003)
  AUTHORS   Stohr H, Heisig JB, Benz PM, Schoberl S, Milenkovic VM, Strauss O,
            Aartsen WM, Wijnholds J, Weber BH and Schulz HL.
  TITLE     TMEM16B, a novel protein with calcium-dependent chloride channel
            activity, associates with a presynaptic protein complex in
            photoreceptor terminals
  JOURNAL   J Neurosci 29 (21), 6809-6818 (2009)
   PUBMED   19474308
  REMARK    GeneRIF: This study suggested that TMEM16B to be a strong candidate
            for the long sought-after Ca(2+)-dependent chloride channel in the
            photoreceptor synapse.
REFERENCE   7  (residues 1 to 1003)
  AUTHORS   Hartzell HC, Yu K, Xiao Q, Chien LT and Qu Z.
  TITLE     Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels
  JOURNAL   J Physiol 587 (Pt 10), 2127-2139 (2009)
   PUBMED   19015192
  REMARK    Review article
REFERENCE   8  (residues 1 to 1003)
  AUTHORS   Schneppenheim R, Castaman G, Federici AB, Kreuz W, Marschalek R,
            Oldenburg J, Oyen F and Budde U.
  TITLE     A common 253-kb deletion involving VWF and TMEM16B in German and
            Italian patients with severe von Willebrand disease type 3
  JOURNAL   J Thromb Haemost 5 (4), 722-728 (2007)
   PUBMED   17371490
  REMARK    GeneRIF: VWF and TMEM16B deletions may have a role in severe von
            Willebrand disease type 3
REFERENCE   9  (residues 1 to 1003)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of TMEM16E and TMEM16F genes in
            silico
  JOURNAL   Int J Oncol 24 (5), 1345-1349 (2004)
   PUBMED   15067359
REFERENCE   10 (residues 1 to 1003)
  AUTHORS   Katoh M and Katoh M.
  TITLE     FLJ10261 gene, located within the CCND1-EMS1 locus on human
            chromosome 11q13, encodes the eight-transmembrane protein
            homologous to C12orf3, C11orf25 and FLJ34272 gene products
  JOURNAL   Int J Oncol 22 (6), 1375-1381 (2003)
   PUBMED   12739008
  REMARK    GeneRIF: C12orf3, FLJ10261 (ORAOV2), C11orf25 and FLJ34272
            constitute a family of eight-transmembrane proteins with N- and
            C-terminal tails facing the cytoplasm.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB593159.1, AC006431.9, FJ384095.1, AK024010.1 and BE645295.1.
            
            Summary: ANO2 belongs to a family of calcium-activated chloride
            channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed
            19015192]).[supplied by OMIM, Jan 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: FJ384095.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1003
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     Protein         1..1003
                     /product="anoctamin-2 isoform 1"
                     /note="transmembrane protein 16B (eight membrane-spanning
                     domains); anoctamin 2, calcium activated chloride channel"
                     /calculated_mol_wt=113839
     Region          1..68
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ90.2)"
     Region          91..349
                     /region_name="Anoct_dimer"
                     /note="dimerization domain of Ca+-activated
                     chloride-channel, anoctamin; pfam16178"
                     /db_xref="CDD:435192"
     Region          352..942
                     /region_name="Anoctamin"
                     /note="Calcium-activated chloride channel; pfam04547"
                     /db_xref="CDD:428001"
     Site            366..386
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ90.2)"
     Site            422
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NQ90.2)"
     Site            435..455
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ90.2)"
     Site            539..559
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ90.2)"
     Site            583..603
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ90.2)"
     Site            624..644
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ90.2)"
     Site            749..769
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ90.2)"
     Site            802..822
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ90.2)"
     Site            841
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NQ90.2)"
     Site            849
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NQ90.2)"
     Site            856
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NQ90.2)"
     Site            908..928
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ90.2)"
     Region          961..1003
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ90.2)"
     Region          1001..1003
                     /region_name="DLG4 binding (PDZ)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ90.2)"
     CDS             1..1003
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /coded_by="NM_001278596.3:43..3054"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS91643.1"
                     /db_xref="GeneID:57101"
                     /db_xref="HGNC:HGNC:1183"
                     /db_xref="MIM:610109"
ORIGIN      
        1 matpgprdip llpgsprrls pqagsrggqg pkhgqqclkm pgprapglqg gsnrdpgqpc
       61 ggestrsssv innyldanep vslearlsrm hfhdsqrkvd yvlayhyrkr gvhlaqgfpg
      121 hslaivsnge tgkephaggp gdielgplda leeerkeqre efehnlmeag lelekdlenk
      181 sqgsifvrih apwqvlarea eflkikvptk kemyeikagg siakkfsaal qklsshlqpr
      241 vpehsnnkmk nlsypfsrek mylyniqekd tffdnatrsr ivheilkrta csranntmgi
      301 nslianniye aayplhdgey dspeddmndr kllyqewary gvfykfqpid lirkyfgeki
      361 glyfawlgly tsflipssvi gvivflygca tieedipsre mcdqqnaftm cplcdkscdy
      421 wnlssacgta qashlfdnpa tvffsifmal watmflenwk rlqmrlgyfw dltgieeeee
      481 raqehsrpey etkvrekmlk esnqsavqkl etnttecgde ddedkltwkd rfpgylmnfa
      541 silfmialtf sivfgvivyr ittaaalsln katrsnvrvt vtataviinl vvilildeiy
      601 gavakwltki evpkteqtfe erlilkafll kfvnayspif yvaffkgrfv grpgsyvyvf
      661 dgyrmeecap ggclmelciq lsiimlgkql iqnnifeigv pklkklfrkl kdeteagetd
      721 sahskhpeqw dldyslepyt gltpeymemi iqfgfvtlfv asfplapvfa llnnvievrl
      781 dakkfvtelr rpdavrtkdi giwfdilsgi gkfsvisnaf viaitsdfip rlvyqysysh
      841 ngtlhgfvnh tlsffnvsql kegtqpensq fdqevqfcrf kdyreppwap npyefskqyw
      901 filsarlafv iifqnlvmfl svlvdwmipd iptdisdqik keksllvdff lkeeheklkl
      961 mdepalrspg ggdrsrsraa ssapsgqsql gsmmssgsqh tnv
//
LOCUS       NP_001362544            1103 aa            linear   PRI 18-DEC-2022
DEFINITION  ubiquitin-associated protein 2-like isoform h [Homo sapiens].
ACCESSION   NP_001362544 XP_016858462
VERSION     NP_001362544.1
DBSOURCE    REFSEQ: accession NM_001375615.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1103)
  AUTHORS   Herlihy AE, Boeing S, Weems JC, Walker J, Dirac-Svejstrup AB,
            Lehner MH, Conaway RC, Conaway JW and Svejstrup JQ.
  TITLE     UBAP2/UBAP2L regulate UV-induced ubiquitylation of RNA polymerase
            II and are the human orthologues of yeast Def1
  JOURNAL   DNA Repair (Amst) 115, 103343 (2022)
   PUBMED   35633597
  REMARK    GeneRIF: UBAP2/UBAP2L regulate UV-induced ubiquitylation of RNA
            polymerase II and are the human orthologues of yeast Def1.
REFERENCE   2  (residues 1 to 1103)
  AUTHORS   Lin S, Yan Z, Tang Q and Zhang S.
  TITLE     Ubiquitin-associated protein 2 like (UBAP2L) enhances growth and
            metastasis of gastric cancer cells
  JOURNAL   Bioengineered 12 (2), 10232-10245 (2021)
   PUBMED   34823423
  REMARK    GeneRIF: Ubiquitin-associated protein 2 like (UBAP2L) enhances
            growth and metastasis of gastric cancer cells.
REFERENCE   3  (residues 1 to 1103)
  AUTHORS   Kruse T, Benz C, Garvanska DH, Lindqvist R, Mihalic F, Coscia F,
            Inturi R, Sayadi A, Simonetti L, Nilsson E, Ali M, Kliche J,
            Moliner Morro A, Mund A, Andersson E, McInerney G, Mann M, Jemth P,
            Davey NE, Overby AK, Nilsson J and Ivarsson Y.
  TITLE     Large scale discovery of coronavirus-host factor protein
            interaction motifs reveals SARS-CoV-2 specific mechanisms and
            vulnerabilities
  JOURNAL   Nat Commun 12 (1), 6761 (2021)
   PUBMED   34799561
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1103)
  AUTHORS   Yang Z, Li G, Zhao Y, Zhang L, Yuan X, Meng L, Liu H, Han Y, Jia L
            and Zhang S.
  TITLE     Molecular Insights into the Recruiting Between UCP2 and DDX5/UBAP2L
            in the Metabolic Plasticity of Non-Small-Cell Lung Cancer
  JOURNAL   J Chem Inf Model 61 (8), 3978-3987 (2021)
   PUBMED   34308648
  REMARK    GeneRIF: Molecular Insights into the Recruiting Between UCP2 and
            DDX5/UBAP2L in the Metabolic Plasticity of Non-Small-Cell Lung
            Cancer.
REFERENCE   5  (residues 1 to 1103)
  AUTHORS   Luo EC, Nathanson JL, Tan FE, Schwartz JL, Schmok JC, Shankar A,
            Markmiller S, Yee BA, Sathe S, Pratt GA, Scaletta DB, Ha Y, Hill
            DE, Aigner S and Yeo GW.
  TITLE     Large-scale tethered function assays identify factors that regulate
            mRNA stability and translation
  JOURNAL   Nat Struct Mol Biol 27 (10), 989-1000 (2020)
   PUBMED   32807991
  REMARK    GeneRIF: Large-scale tethered function assays identify factors that
            regulate mRNA stability and translation.
REFERENCE   6  (residues 1 to 1103)
  AUTHORS   Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM,
            Polakiewicz RD and Comb MJ.
  TITLE     Immunoaffinity profiling of tyrosine phosphorylation in cancer
            cells
  JOURNAL   Nat Biotechnol 23 (1), 94-101 (2005)
   PUBMED   15592455
REFERENCE   7  (residues 1 to 1103)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   8  (residues 1 to 1103)
  AUTHORS   Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M and
            Peters EC.
  TITLE     Robust phosphoproteomic profiling of tyrosine phosphorylation sites
            from human T cells using immobilized metal affinity chromatography
            and tandem mass spectrometry
  JOURNAL   Anal Chem 76 (10), 2763-2772 (2004)
   PUBMED   15144186
REFERENCE   9  (residues 1 to 1103)
  AUTHORS   Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD and
            Sanderson CM.
  TITLE     Analysis of a high-throughput yeast two-hybrid system and its use
            to predict the function of intracellular proteins encoded within
            the human MHC class III region
  JOURNAL   Genomics 83 (1), 153-167 (2004)
   PUBMED   14667819
REFERENCE   10 (residues 1 to 1103)
  AUTHORS   Marenholz I, Zirra M, Fischer DF, Backendorf C, Ziegler A and
            Mischke D.
  TITLE     Identification of human epidermal differentiation complex
            (EDC)-encoded genes by subtractive hybridization of entire YACs to
            a gridded keratinocyte cDNA library
  JOURNAL   Genome Res 11 (3), 341-355 (2001)
   PUBMED   11230159
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590431.11.
            On Oct 30, 2019 this sequence version replaced XP_016858462.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.211681.1,
                                           SRR1660807.125462.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1103
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..1103
                     /product="ubiquitin-associated protein 2-like isoform h"
                     /note="protein NICE-4; RNA polymerase II degradation
                     factor UBAP2L"
                     /calculated_mol_wt=116381
     Region          1..33
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Region          50..87
                     /region_name="UBA_UBP2_like"
                     /note="UBA domain found in ubiquitin-associated protein 2
                     (UBAP-2) like proteins; cd14277"
                     /db_xref="CDD:270463"
     Region          92..234
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            187
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            190
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            356
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            360
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Region          377..420
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            410
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            416
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:17924679, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            425
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            439
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Region          440..493
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            454
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            467
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            470
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            471
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            477
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Region          496..523
                     /region_name="DUF3697"
                     /note="Ubiquitin-associated protein 2; pfam12478"
                     /db_xref="CDD:372135"
     Region          530..656
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            604
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            605
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            608
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            609
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Region          669..794
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            852
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            859
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Region          865..901
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14157.2)"
     Site            962
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            969
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            969
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     Site            976
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q14157.2)"
     CDS             1..1103
                     /gene="UBAP2L"
                     /gene_synonym="NICE-4; NICE4"
                     /coded_by="NM_001375615.1:62..3373"
                     /note="isoform h is encoded by transcript variant 8"
                     /db_xref="GeneID:9898"
                     /db_xref="HGNC:HGNC:29877"
                     /db_xref="MIM:616472"
ORIGIN      
        1 mmtsvgtnra rgnweqpqnq nqtqhkqrpq ataeqirlaq misdhndadf eekvkqlidi
       61 tgknqdecvi alhdcngdvn rainvllegn pdthswemvg kkkgvsgqkd ggqtesneeg
      121 kenrdrdrdy srrrggpprr grgasrgref rgqengldgt ksggpsgrgt ergrrgrgrg
      181 rggsgrrggr fsaqgmgtfn padyaepant ddnygnssgn twnntghfep ddgtsawrta
      241 teewgtedwn edlsetkift asnvssvplp aenvtitagq ridlavllgk tpstmendss
      301 nldpsqapsl aqplvfsnsk qtaisqpasg ntfshhsmvs mlgkgfgdvg eakggsttgs
      361 qfleqfktaq alaqlaaqhs qsgstttssw dmgsttqsps lvqydlknps dsavhspftk
      421 rqaftpsstm mevflqeksp avatstaapp ppssplpsks tsapqmspgs sdnqssspqp
      481 aqqklkqqkk kasltskipa lavempgsad isglnlqfga lqfgsepvls dyestpttsa
      541 sssqapssly tstasessst issnqsqesg yqsgpiqstt ytsqnnaqgp lyeqrstqtr
      601 rypssisssp qkdltqakng fssvqatqlq ttqsvegatg savksdspst ssipplnetv
      661 saaslltttn qhssslggls hseeipnttt tqhsstlstq qntlssstss grtststllh
      721 tsveseanlh sssstfstts stvsapppvv svssslnsgs slglslgsns tvtastrssv
      781 attsgkappn lppgvppllp npyimapgll hayppqvygy ddlqmlqtrf pldyysipfp
      841 tpttpltgrd gslasnpysg dltkfgrgda sspapattla qpqqnqtqth httqqtflnp
      901 alppgysyts lpyytgvpgl pstfqygpav fpvaptsskq hgvnvsvnas atpfqqpsgy
      961 gshgyntgvs vtssntgvpd isgsvysktq sfekqgfhsg tpaasfnlps algsggpinp
     1021 ataaayppap fmhiltphqq phsqilhhhl qqdgqlpylq milccqrqqe eqtgsgqrsq
     1081 tssipqkpqt nksaynsysw gan
//
LOCUS       NP_001139571             489 aa            linear   PRI 18-DEC-2022
DEFINITION  serine/threonine-protein kinase Nek3 isoform b [Homo sapiens].
ACCESSION   NP_001139571
VERSION     NP_001139571.1
DBSOURCE    REFSEQ: accession NM_001146099.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 489)
  AUTHORS   Melo-Hanchuk TD, Martins MB, Cunha LL, Soares FA, Ward LS, Vassallo
            J and Kobarg J.
  TITLE     Expression of the NEK family in normal and cancer tissue: an
            immunohistochemical study
  JOURNAL   BMC Cancer 20 (1), 23 (2020)
   PUBMED   31906878
  REMARK    GeneRIF: the NEK protein kinases emerge as important proteins in
            thyroid cancer development and may help to identify malignancy and
            aggressiveness features during diagnosis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 489)
  AUTHORS   Rapaport D, Fichtman B, Weidberg H, Sprecher E and Horowitz M.
  TITLE     NEK3-mediated SNAP29 phosphorylation modulates its membrane
            association and SNARE fusion dependent processes
  JOURNAL   Biochem Biophys Res Commun 497 (2), 605-611 (2018)
   PUBMED   29454964
  REMARK    GeneRIF: NEK3 kinase phosphorylates SNAP29 on its serine 105.
            NEK3-mediated phosphorylation determines membrane localization of
            SNAP29. Membrane-associated SNAP29 regulates Golgi and focal
            adhesion structures.
REFERENCE   3  (residues 1 to 489)
  AUTHORS   Cao Y, Song J, Chen J, Xiao J, Ni J and Wu C.
  TITLE     Overexpression of NEK3 is associated with poor prognosis in
            patients with gastric cancer
  JOURNAL   Medicine (Baltimore) 97 (3), e9630 (2018)
   PUBMED   29504992
  REMARK    GeneRIF: The data demonstrate that NEK3 is overexpressed in gastric
            cancer, which promotes the malignancy of gastric cancer
REFERENCE   4  (residues 1 to 489)
  AUTHORS   Harrington KM and Clevenger CV.
  TITLE     Identification of NEK3 Kinase Threonine 165 as a Novel Regulatory
            Phosphorylation Site That Modulates Focal Adhesion Remodeling
            Necessary for Breast Cancer Cell Migration
  JOURNAL   J Biol Chem 291 (41), 21388-21406 (2016)
   PUBMED   27489110
  REMARK    GeneRIF: these data support a modulatory role for phosphorylation
            at NEK3 Thr-165 in focal adhesion maturation and/or turnover to
            promote breast cancer cell migration.
REFERENCE   5  (residues 1 to 489)
  AUTHORS   Benjamin S, Weidberg H, Rapaport D, Pekar O, Nudelman M, Segal D,
            Hirschberg K, Katzav S, Ehrlich M and Horowitz M.
  TITLE     EHD2 mediates trafficking from the plasma membrane by modulating
            Rac1 activity
  JOURNAL   Biochem J 439 (3), 433-442 (2011)
   PUBMED   21756249
  REMARK    GeneRIF: EHD2 interacts with Nek3 [NIMA (never in mitosis in
            Aspergillus nidulans)-related kinase 3], a serine/threonine kinase.
REFERENCE   6  (residues 1 to 489)
  AUTHORS   Ballif BA, Villen J, Beausoleil SA, Schwartz D and Gygi SP.
  TITLE     Phosphoproteomic analysis of the developing mouse brain
  JOURNAL   Mol Cell Proteomics 3 (11), 1093-1101 (2004)
   PUBMED   15345747
REFERENCE   7  (residues 1 to 489)
  AUTHORS   Kimura M and Okano Y.
  TITLE     Molecular cloning and characterization of the human NIMA-related
            protein kinase 3 gene (NEK3)
  JOURNAL   Cytogenet Cell Genet 95 (3-4), 177-182 (2001)
   PUBMED   12063396
  REMARK    GeneRIF: Molecular cloning and characterization of the human
            NIMA-related protein kinase 3 gene (NEK3).
REFERENCE   8  (residues 1 to 489)
  AUTHORS   Tanaka K and Nigg EA.
  TITLE     Cloning and characterization of the murine Nek3 protein kinase, a
            novel member of the NIMA family of putative cell cycle regulators
  JOURNAL   J Biol Chem 274 (19), 13491-13497 (1999)
   PUBMED   10224116
REFERENCE   9  (residues 1 to 489)
  AUTHORS   Schultz SJ, Fry AM, Sutterlin C, Ried T and Nigg EA.
  TITLE     Cell cycle-dependent expression of Nek2, a novel human protein
            kinase related to the NIMA mitotic regulator of Aspergillus
            nidulans
  JOURNAL   Cell Growth Differ 5 (6), 625-635 (1994)
   PUBMED   7522034
REFERENCE   10 (residues 1 to 489)
  AUTHORS   Schultz SJ and Nigg EA.
  TITLE     Identification of 21 novel human protein kinases, including 3
            members of a family related to the cell cycle regulator nimA of
            Aspergillus nidulans
  JOURNAL   Cell Growth Differ 4 (10), 821-830 (1993)
   PUBMED   8274451
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA733733.1, DB185803.1,
            AB072828.1 and AI026881.1.
            
            Summary: This gene encodes a member of the NimA (never in mitosis
            A) family of serine/threonine protein kinases. The encoded protein
            differs from other NimA family members in that it is not cell cycle
            regulated and is found primarily in the cytoplasm. The kinase is
            activated by prolactin stimulation, leading to phosphorylation of
            VAV2 guanine nucleotide exchange factor, paxillin, and activation
            of the RAC1 GTPase. Two functional alleles for this gene have been
            identified in humans. The reference genome assembly (GRCh38)
            represents a functional allele that is associated with the
            inclusion of an additional coding exon in protein-coding
            transcripts, compared to an alternate functional allele that lacks
            the exon. [provided by RefSeq, Sep 2019].
            
            Transcript Variant: This variant (3) lacks an alternate exon in the
            central coding region, compared to variant 1. The resulting isoform
            (b) lacks an internal segment, compared to isoform a. This variant
            represents an alternate haplotype that lacks an 'A' at position
            1253. This haplotype is not encoded by the reference assembly.
            
            Sequence Note: This sequence lacks an extra 'A' at the end of exon
            10, representing an alternate haplotype not present in the GRCh38
            reference assembly (NC_000013.11). It encodes a full-length protein
            through skipping of exon 11.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803615.46983.1, AK131359.1
                                    [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..489
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.3"
     Protein         1..489
                     /product="serine/threonine-protein kinase Nek3 isoform b"
                     /EC_number="2.7.11.1"
                     /note="serine/threonine-protein kinase NEK3; phosphorylase
                     B kinase kinase; glycogen synthase A kinase;
                     hydroxyalkyl-protein kinase; HSPK 36; nimA-related protein
                     kinase 3; never in mitosis A-related kinase 3; NIMA (never
                     in mitosis gene a)-related kinase 3"
                     /calculated_mol_wt=55793
     Region          3..257
                     /region_name="STKc_Nek3"
                     /note="Catalytic domain of the Protein Serine/Threonine
                     Kinase, Never In Mitosis gene A (NIMA)-related kinase 3;
                     cd08219"
                     /db_xref="CDD:173759"
     Site            order(10..14,18,31,33,63,79..82,86,88,127,129,131..132,
                     134,145,148,150,164..167)
                     /site_type="active"
                     /db_xref="CDD:173759"
     Site            order(10..11,13..14,18,31,33,63,80..82,86,132,134,150)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:173759"
     Site            order(14,86,88,127,129,131,148,164..167)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:173759"
     Site            144..167
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:173759"
     CDS             1..489
                     /gene="NEK3"
                     /gene_synonym="HSPK36"
                     /coded_by="NM_001146099.1:377..1846"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="GeneID:4752"
                     /db_xref="HGNC:HGNC:7746"
                     /db_xref="MIM:604044"
ORIGIN      
        1 mddymvlrmi gegsfgrall vqhessnqmf amkeirlpks fsntqnsrke avllakmkhp
       61 nivafkesfe aeghlyivme ycdggdlmqk ikqqkgklfp edmilnwftq mclgvnhihk
      121 krvlhrdiks knifltqngk vklgdfgsar llsnpmafac tyvgtpyyvp peiwenlpyn
      181 nksdiwslgc ilyelctlkh pfqanswknl ilkvcqgcis plpshysyel qflvkqmfkr
      241 npshrpsatt llsrgivarl vqkclppeii meygeevlee iknskhntpr kkqeeeqdrk
      301 gshtdlesin enlvesalrr vnreekgnks vhlrkasspn lhrrqweknv pntaltalen
      361 asiltsslta eddrggsvik ysknttrkqw lketpdtlln ilknadlsla fqtytiyrpg
      421 segflkgpls eeteasdsvd gghdsvildp erlepgldee dtdfeeeddn pdwvselkkr
      481 agwqglcdr
//
LOCUS       NP_057185                180 aa            linear   PRI 24-DEC-2022
DEFINITION  60S ribosome subunit biogenesis protein NIP7 homolog isoform 1
            [Homo sapiens].
ACCESSION   NP_057185
VERSION     NP_057185.1
DBSOURCE    REFSEQ: accession NM_016101.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 180)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 180)
  AUTHORS   Liu J, Li R, Liao X and Jiang W.
  TITLE     Comprehensive Bioinformatic Analysis Genes Associated to the
            Prognosis of Liposarcoma
  JOURNAL   Med Sci Monit 24, 7329-7339 (2018)
   PUBMED   30317246
  REMARK    GeneRIF: The Cox regression model revealed that only NIP7, RPL10L,
            and MCM2 exhibited significant correlation with distant
            recurrence-free survival in liposarcoma in the GSE30929 dataset,
            and the regression coefficients were -0.676, -0.703, and 0.868,
            respectively
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 180)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   4  (residues 1 to 180)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   5  (residues 1 to 180)
  AUTHORS   Morello LG, Coltri PP, Quaresma AJ, Simabuco FM, Silva TC, Singh G,
            Nickerson JA, Oliveira CC, Moore MJ and Zanchin NI.
  TITLE     The human nucleolar protein FTSJ3 associates with NIP7 and
            functions in pre-rRNA processing
  JOURNAL   PLoS One 6 (12), e29174 (2011)
   PUBMED   22195017
  REMARK    GeneRIF: The results presented in this work indicate a close
            functional interaction between NIP7 and FTSJ3 during pre-rRNA
            processing and show that FTSJ3 participates in ribosome synthesis
            in human cells.
REFERENCE   6  (residues 1 to 180)
  AUTHORS   Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI and Mann
            M.
  TITLE     Nucleolar proteome dynamics
  JOURNAL   Nature 433 (7021), 77-83 (2005)
   PUBMED   15635413
REFERENCE   7  (residues 1 to 180)
  AUTHORS   Liu JF, Wang XQ, Wang ZX, Chen JR, Jiang T, An XM, Chang WR and
            Liang DC.
  TITLE     Crystal structure of KD93, a novel protein expressed in human
            hematopoietic stem/progenitor cells
  JOURNAL   J Struct Biol 148 (3), 370-374 (2004)
   PUBMED   15522784
  REMARK    GeneRIF: KD93 is a novel protein expressed in human hematopoietic
            stem/progenitor cells
REFERENCE   8  (residues 1 to 180)
  AUTHORS   Sekiguchi T, Todaka Y, Wang Y, Hirose E, Nakashima N and Nishimoto
            T.
  TITLE     A novel human nucleolar protein, Nop132, binds to the G proteins,
            RRAG A/C/D
  JOURNAL   J Biol Chem 279 (9), 8343-8350 (2004)
   PUBMED   14660641
REFERENCE   9  (residues 1 to 180)
  AUTHORS   Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E,
            Rasquin-Weber A, Hudson TJ and Richter A.
  TITLE     A missense mutation (R565W) in cirhin (FLJ14728) in North American
            Indian childhood cirrhosis
  JOURNAL   Am J Hum Genet 71 (6), 1443-1449 (2002)
   PUBMED   12417987
REFERENCE   10 (residues 1 to 180)
  AUTHORS   Scherl A, Coute Y, Deon C, Calle A, Kindbeiter K, Sanchez JC, Greco
            A, Hochstrasser D and Diaz JJ.
  TITLE     Functional proteomic analysis of human nucleolus
  JOURNAL   Mol Biol Cell 13 (11), 4100-4109 (2002)
   PUBMED   12429849
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB453898.1, BC015941.1, DR423435.1 and AW001672.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.126114.1,
                                           SRR1660809.153249.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000254940.10/ ENSP00000254940.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..180
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     Protein         1..180
                     /product="60S ribosome subunit biogenesis protein NIP7
                     homolog isoform 1"
                     /note="60S ribosome subunit biogenesis protein NIP7
                     homolog; nuclear import 7 homolog; NIP7, nucleolar
                     pre-rRNA processing protein"
                     /calculated_mol_wt=20332
     Region          1..92
                     /region_name="N-terminal domain"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y221.1)"
     Region          2..88
                     /region_name="Nip7_N_euk"
                     /note="N-terminal domain of eukaryotic 60S ribosome
                     subunit biogenesis protein Nip7 and similar proteins;
                     cd21146"
                     /db_xref="CDD:409283"
     Site            order(18..19,83..84,86)
                     /site_type="other"
                     /note="PUA domain interface [polypeptide binding]"
                     /db_xref="CDD:409283"
     Region          93..180
                     /region_name="C-terminal domain"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y221.1)"
     Region          95..172
                     /region_name="PUA_Nip7-like"
                     /note="PUA RNA binding domain of ribosome assembly factor
                     Nip7 and similar proteins; cd21151"
                     /db_xref="CDD:409293"
     Site            order(100,106,108..110,112..114,163..166)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:409293"
     CDS             1..180
                     /gene="NIP7"
                     /gene_synonym="CGI-37; HSPC031; KD93"
                     /coded_by="NM_016101.5:59..601"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS10877.1"
                     /db_xref="GeneID:51388"
                     /db_xref="HGNC:HGNC:24328"
                     /db_xref="MIM:619204"
ORIGIN      
        1 mrplteeetr vmfekiakyi genlqllvdr pdgtycfrlh ndrvyyvsek imklaanisg
       61 dklvslgtcf gkftkthkfr lhvtaldyla pyakykvwik pgaeqsflyg nhvlksglgr
      121 itentsqyqg vvvysmadip lgfgvaakst qdcrkvdpma ivvfhqadig eyvrheetlt
//
LOCUS       NP_068749                792 aa            linear   PRI 25-DEC-2022
DEFINITION  RAD50-interacting protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_068749
VERSION     NP_068749.3
DBSOURCE    REFSEQ: accession NM_021930.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 792)
  AUTHORS   Arnold F, Gout J, Wiese H, Weissinger SE, Roger E, Perkhofer L,
            Walter K, Scheible J, Prelli Bozzo C, Lechel A, Ettrich TJ, Azoitei
            N, Hao L, Furstberger A, Kaminska EK, Sparrer KMJ, Rasche V, Wiese
            S, Kestler HA, Moller P, Seufferlein T, Frappart PO and Kleger A.
  TITLE     RINT1 Regulates SUMOylation and the DNA Damage Response to Preserve
            Cellular Homeostasis in Pancreatic Cancer
  JOURNAL   Cancer Res 81 (7), 1758-1774 (2021)
   PUBMED   33531371
  REMARK    GeneRIF: RINT1 Regulates SUMOylation and the DNA Damage Response to
            Preserve Cellular Homeostasis in Pancreatic Cancer.
REFERENCE   2  (residues 1 to 792)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 792)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 792)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 792)
  AUTHORS   Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M,
            Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez
            LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R,
            Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H,
            Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC and
            Klee EW.
  TITLE     RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute
            Liver Failure and Skeletal Abnormalities
  JOURNAL   Am J Hum Genet 105 (1), 108-121 (2019)
   PUBMED   31204009
  REMARK    GeneRIF: RINT1 Bi-allelic Variations Cause Infantile-Onset
            Recurrent Acute Liver Failure and Skeletal Abnormalities.
REFERENCE   6  (residues 1 to 792)
  AUTHORS   Arasaki K, Taniguchi M, Tani K and Tagaya M.
  TITLE     RINT-1 regulates the localization and entry of ZW10 to the syntaxin
            18 complex
  JOURNAL   Mol Biol Cell 17 (6), 2780-2788 (2006)
   PUBMED   16571679
  REMARK    GeneRIF: RINT-1 coordinates the localization and function of ZW10
            by serving as a link between ZW10 and the SNARE complex comprising
            syntaxin 18.
REFERENCE   7  (residues 1 to 792)
  AUTHORS   Kops GJ, Kim Y, Weaver BA, Mao Y, McLeod I, Yates JR 3rd, Tagaya M
            and Cleveland DW.
  TITLE     ZW10 links mitotic checkpoint signaling to the structural
            kinetochore
  JOURNAL   J Cell Biol 169 (1), 49-60 (2005)
   PUBMED   15824131
REFERENCE   8  (residues 1 to 792)
  AUTHORS   Nakajima K, Hirose H, Taniguchi M, Kurashina H, Arasaki K, Nagahama
            M, Tani K, Yamamoto A and Tagaya M.
  TITLE     Involvement of BNIP1 in apoptosis and endoplasmic reticulum
            membrane fusion
  JOURNAL   EMBO J 23 (16), 3216-3226 (2004)
   PUBMED   15272311
REFERENCE   9  (residues 1 to 792)
  AUTHORS   Hirose H, Arasaki K, Dohmae N, Takio K, Hatsuzawa K, Nagahama M,
            Tani K, Yamamoto A, Tohyama M and Tagaya M.
  TITLE     Implication of ZW10 in membrane trafficking between the endoplasmic
            reticulum and Golgi
  JOURNAL   EMBO J 23 (6), 1267-1278 (2004)
   PUBMED   15029241
REFERENCE   10 (residues 1 to 792)
  AUTHORS   Xiao J, Liu CC, Chen PL and Lee WH.
  TITLE     RINT-1, a novel Rad50-interacting protein, participates in
            radiation-induced G(2)/M checkpoint control
  JOURNAL   J Biol Chem 276 (9), 6105-6111 (2001)
   PUBMED   11096100
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC068483.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 26, 2005 this sequence version replaced NP_068749.2.
            
            Summary: This gene encodes a protein first identified for its
            ability to interact with the RAD50 double strand break repair
            protein, with the resulting interaction implicated in the
            regulation of cell cycle progression and telomere length. The
            encoded protein may also play a role in trafficking of cellular
            cargo from the endosome to the trans-Golgi network. Mutations in
            this gene may be associated with breast cancer in human patients.
            [provided by RefSeq, Oct 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC068483.1, SRR1660803.231427.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000257700.7/ ENSP00000257700.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..792
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.3"
     Protein         1..792
                     /product="RAD50-interacting protein 1 isoform 1"
                     /note="Rad50-interacting protein 1"
                     /calculated_mol_wt=90501
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NUQ1.1)"
     Region          304..784
                     /region_name="RINT1_TIP1"
                     /note="RINT-1 / TIP-1 family; pfam04437"
                     /db_xref="CDD:427947"
     CDS             1..792
                     /gene="RINT1"
                     /gene_synonym="ILFS3; RINT-1"
                     /coded_by="NM_021930.6:116..2494"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS34726.1"
                     /db_xref="GeneID:60561"
                     /db_xref="HGNC:HGNC:21876"
                     /db_xref="MIM:610089"
ORIGIN      
        1 mlpageigas paapccsesg derknleeks dinvtvligs kqvsegtdng dlpsyvsafi
       61 ekevgndlks lkkldklieq rtvskmqlee qvltisseip krirsalkna eeskqflnqf
      121 leqethlfsa inshlltaqp wmddlgtmis qieeierhla ylkwisqiee lsdniqqylm
      181 tnnvpeaast lvsmaeldik lqesscthll gfmratvkfw hkilkdklts dfeeilaqlh
      241 wpfiappqsq tvglsrpasa peiysyletl fcqllklqts delltepkql pekyslpasp
      301 svilpiqvml tplqkrfryh frgnrqtnvl skpewylaqv lmwignhtef ldekiqpild
      361 kvgslvnarl efsrglmmlv leklatdipc llyddnlfch lvdevllfer elhsvhgypg
      421 tfascmhils eetcfqrwlt verkfalqkm dsmlsseaaw vsqykditdv demkvpdcae
      481 tfmtlllvit dryknlptas rklqflelqk dlvddfrirl tqvmkeetra slgfrycail
      541 navnyistvl adwadnvffl qlqqaalevf aenntlsklq lgqlasmess vfddminlle
      601 rlkhdmltrq vdhvfrevkd aaklykkerw lslpsqseqa vmslsssacp llltlrdhll
      661 qleqqlcfsl fkifwqmlve kldvyiyqei ilanhfnegg aaqlqfdmtr nlfplfshyc
      721 krpenyfkhi keacivlnln vgsalllkdv lqsasgqlpa taalnevgiy klaqqdveil
      781 lnlrtnwpnt gk
//
LOCUS       NP_001355055             522 aa            linear   PRI 25-DEC-2022
DEFINITION  chromodomain Y-like protein isoform f [Homo sapiens].
ACCESSION   NP_001355055 XP_011513299
VERSION     NP_001355055.1
DBSOURCE    REFSEQ: accession NM_001368126.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 522)
  AUTHORS   Wang S, Liu F, Ma H, Cui X, Yang S and Qin R.
  TITLE     circCDYL Acts as a Tumor Suppressor in Triple Negative Breast
            Cancer by Sponging miR-190a-3p and Upregulating TP53INP1
  JOURNAL   Clin Breast Cancer 20 (5), 422-430 (2020)
   PUBMED   32741666
  REMARK    GeneRIF: circCDYL Acts as a Tumor Suppressor in Triple Negative
            Breast Cancer by Sponging miR-190a-3p and Upregulating TP53INP1.
REFERENCE   2  (residues 1 to 522)
  AUTHORS   Cui W, Dai J, Ma J and Gu H.
  TITLE     circCDYL/microRNA-105-5p participates in modulating growth and
            migration of colon cancer cells
  JOURNAL   Gen Physiol Biophys 38 (6), 485-495 (2019)
   PUBMED   31829306
  REMARK    GeneRIF: circCDYL overexpression repressed cellular growth and
            migration via repressing miR-150-5p in colon cancer cells
REFERENCE   3  (residues 1 to 522)
  AUTHORS   Qiu Z, Zhu W, Meng H, Tong L, Li X, Luo P, Yi L, Zhang X, Guo L,
            Wei T and Zhang J.
  TITLE     CDYL promotes the chemoresistance of small cell lung cancer by
            regulating H3K27 trimethylation at the CDKN1C promoter
  JOURNAL   Theranostics 9 (16), 4717-4729 (2019)
   PUBMED   31367252
  REMARK    GeneRIF: CDYL promotes the chemoresistance of small cell lung
            cancer by regulating H3K27 trimethylation at the CDKN1C promoter.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 522)
  AUTHORS   Abu-Zhayia ER, Awwad SW, Ben-Oz BM, Khoury-Haddad H and Ayoub N.
  TITLE     CDYL1 fosters double-strand break-induced transcription silencing
            and promotes homology-directed repair
  JOURNAL   J Mol Cell Biol 10 (4), 341-357 (2018)
   PUBMED   29177481
  REMARK    GeneRIF: CDYL1 promotes the recruitment of enhancer of zeste
            homolog 2 (EZH2), stimulates local increase of the repressive
            methyl mark H3K27me3, and promotes transcription silencing at
            double-strand break sites.
REFERENCE   5  (residues 1 to 522)
  AUTHORS   Schoeler NE, Leu C, Balestrini S, Mudge JM, Steward CA, Frankish A,
            Leung MA, Mackay M, Scheffer I, Williams R, Sander JW, Cross JH and
            Sisodiya SM.
  TITLE     Genome-wide association study: Exploring the genetic basis for
            responsiveness to ketogenic dietary therapies for drug-resistant
            epilepsy
  JOURNAL   Epilepsia 59 (8), 1557-1566 (2018)
   PUBMED   30009487
  REMARK    GeneRIF: This study demonstrated that CDYL is the most likely
            candidate gene for responsiveness to ketogenic dietary therapies
            for drug-resistant epilepsy.
REFERENCE   6  (residues 1 to 522)
  AUTHORS   Caron C, Pivot-Pajot C, van Grunsven LA, Col E, Lestrat C,
            Rousseaux S and Khochbin S.
  TITLE     Cdyl: a new transcriptional co-repressor
  JOURNAL   EMBO Rep 4 (9), 877-882 (2003)
   PUBMED   12947414
REFERENCE   7  (residues 1 to 522)
  AUTHORS   Shi Y, Sawada J, Sui G, Affar el B, Whetstine JR, Lan F, Ogawa H,
            Luke MP, Nakatani Y and Shi Y.
  TITLE     Coordinated histone modifications mediated by a CtBP co-repressor
            complex
  JOURNAL   Nature 422 (6933), 735-738 (2003)
   PUBMED   12700765
REFERENCE   8  (residues 1 to 522)
  AUTHORS   Lahn BT, Tang ZL, Zhou J, Barndt RJ, Parvinen M, Allis CD and Page
            DC.
  TITLE     Previously uncharacterized histone acetyltransferases implicated in
            mammalian spermatogenesis
  JOURNAL   Proc Natl Acad Sci U S A 99 (13), 8707-8712 (2002)
   PUBMED   12072557
REFERENCE   9  (residues 1 to 522)
  AUTHORS   Jones DO, Cowell IG and Singh PB.
  TITLE     Mammalian chromodomain proteins: their role in genome organisation
            and expression
  JOURNAL   Bioessays 22 (2), 124-137 (2000)
   PUBMED   10655032
  REMARK    Review article
REFERENCE   10 (residues 1 to 522)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Retroposition of autosomal mRNA yielded testis-specific gene family
            on human Y chromosome
  JOURNAL   Nat Genet 21 (4), 429-433 (1999)
   PUBMED   10192397
  REMARK    Erratum:[Nat Genet 1999 Jun;22(2):209]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL022725.8 and AL359643.27.
            On Jan 15, 2019 this sequence version replaced XP_011513299.1.
            
            Summary: Chromodomain Y is a primate-specific Y-chromosomal gene
            family expressed exclusively in the testis and implicated in
            infertility. Although the Y-linked genes are testis-specific, this
            autosomal gene is ubiquitously expressed. The Y-linked genes arose
            by retrotransposition of an mRNA from this gene, followed by
            amplification of the retroposed gene. Proteins encoded by this gene
            superfamily possess a chromodomain, a motif implicated in chromatin
            binding and gene suppression, and a catalytic domain believed to be
            involved in histone acetylation. Multiple proteins are encoded by
            transcript variants of this gene. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..522
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.1"
     Protein         1..522
                     /product="chromodomain Y-like protein isoform f"
                     /EC_number="2.3.1.48"
                     /note="CDY-like, autosomal; testis-specific chromodomain
                     Y-like protein; chromodomain protein, Y-like; crotonyl-CoA
                     hydratase"
                     /calculated_mol_wt=58269
     Region          6..57
                     /region_name="CD_CDY"
                     /note="chromodomain of the Chromodomain Y-like protein
                     family; cd18634"
                     /db_xref="CDD:349284"
     Site            order(7..11,27,29..32,36,38..41,43..44,51,54..55)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:349284"
     Region          268..464
                     /region_name="crotonase-like"
                     /note="Crotonase/Enoyl-Coenzyme A (CoA) hydratase
                     superfamily. This superfamily contains a diverse set of
                     enzymes including enoyl-CoA hydratase, napthoate synthase,
                     methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA
                     dehydratase, and dienoyl-CoA isomerase; cd06558"
                     /db_xref="CDD:119339"
     Site            order(288,290,321,325..329,372,374..376,398..399,402)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:119339"
     Site            order(327,376)
                     /site_type="active"
                     /note="oxyanion hole (OAH) forming residues [active]"
                     /db_xref="CDD:119339"
     Site            order(356,364,385..388,400..403,409,411..413,415..416,
                     421..422,424..425,427..428,431,442,445,460,463..464)
                     /site_type="other"
                     /note="trimer interface [polypeptide binding]"
                     /db_xref="CDD:119339"
     CDS             1..522
                     /gene="CDYL"
                     /gene_synonym="CDYL1"
                     /coded_by="NM_001368126.1:381..1949"
                     /note="isoform f is encoded by transcript variant 8"
                     /db_xref="GeneID:9425"
                     /db_xref="HGNC:HGNC:1811"
                     /db_xref="MIM:603778"
ORIGIN      
        1 maseelyeve rivdkrknkk gkteylvrwk gydseddtwe peqhlvncee yihdfnrrht
       61 ekqkestltr tnrtspnnar kqisrstnsn fsktspkalv igkdheskns qlfaasqkfr
      121 kntapslssr knmdlaksgi kilvpkspvk srtavdgfqs espekldpve qgqedtvape
      181 vaaekpvgal lgpgaerarm gsrprihplv pqvpgpvtaa matglavngk gvtaskrkfi
      241 ddrrdqpfdk rlrfsvrqte sayryrdivv rkqdgfthil lstkssenns lnpevmrevq
      301 salstaaadd sklvllsavg svfccgldfi yfirrltddr krestkmaea irnfvntfiq
      361 fkkpiivavn gpaiglgasi lplcdvvwan ekawfqtpyt tfgqspdgcs tvmfpkimgg
      421 asanemllsg rkltaqeacg kglvsqvfwp gtftqevmvr ikelascnpv vleeskalvr
      481 cnmkmeleqa nerecevlkk iwgsaqgmds mlkylqrkid ef
//
LOCUS       NP_001354546             777 aa            linear   PRI 25-DEC-2022
DEFINITION  double zinc ribbon and ankyrin repeat-containing protein 1 isoform
            7 [Homo sapiens].
ACCESSION   NP_001354546
VERSION     NP_001354546.1
DBSOURCE    REFSEQ: accession NM_001367617.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 777)
  AUTHORS   Sedgwick SG and Smerdon SJ.
  TITLE     The ankyrin repeat: a diversity of interactions on a common
            structural framework
  JOURNAL   Trends Biochem Sci 24 (8), 311-316 (1999)
   PUBMED   10431175
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121893.21 and AL049646.19.
            
            Summary: This gene contains two ankyrin repeat-encoding regions.
            Ankyrin repeats are tandemly repeated modules of about 33 amino
            acids described as L-shaped structures consisting of a beta-hairpin
            and two alpha-helices. Ankyrin repeats occur in a large number of
            functionally diverse proteins, mainly from eukaryotes, and are
            known to function as protein-protein interaction domains. [provided
            by RefSeq, Dec 2018].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK295073.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..777
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.23"
     Protein         1..777
                     /product="double zinc ribbon and ankyrin repeat-containing
                     protein 1 isoform 7"
                     /note="ankyrin repeat-containing protein C20orf12; ankyrin
                     repeat domain 64; double zinc ribbon and ankyrin
                     repeat-containing protein 1"
                     /calculated_mol_wt=84970
     Region          32..100
                     /region_name="Fn3_assoc"
                     /note="Fn3 associated; pfam13287"
                     /db_xref="CDD:433088"
     Region          230..289
                     /region_name="DZR"
                     /note="Double zinc ribbon; pfam12773"
                     /db_xref="CDD:432773"
     Region          358..406
                     /region_name="DZR"
                     /note="Double zinc ribbon; pfam12773"
                     /db_xref="CDD:432773"
     Region          644..732
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Site            order(644,646..647,651,654,663,665,667,671..672,675..677,
                     679..680,684,687,697,699,701,705..706,709..710,714,
                     716..717,723,732)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          665..697
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          699..732
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..777
                     /gene="DZANK1"
                     /gene_synonym="ANKRD64; C20orf12; C20orf84"
                     /coded_by="NM_001367617.1:45..2378"
                     /note="isoform 7 is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS93014.1"
                     /db_xref="GeneID:55184"
                     /db_xref="HGNC:HGNC:15858"
ORIGIN      
        1 mtagsvcvpq iiplrvpqpg kanheidnnt llemksdtpd vniyytldgs kpeflkrigy
       61 genntfkyik pitlpdgkiq vkaiavskdc rqsgivtkvf hvdyeppniv spednvenvl
      121 kdssrqefkn gfvgsklkkk yknsenqrsw nvnlrkfpdv qvgertdpkt lkdlhfsesp
      181 leipaygggs gsrpptrqsq spgfahvsgq kcltsteimr iqretdflkc ahclaprpsd
      241 pfarfcqecg spvppifgcr lpppegaqmg lcaecrslvp mntpicvvce aplalqlqpq
      301 aslhlkekvi cracgtgnpa hlrycvtceg alpssqesmc sgdkappppt qkggtiscyr
      361 cgrwnlweas fcgwcgamlg ipagcsvcpk cgasnhlsar fcgscgicvk slvklsldrs
      421 lalaaeeprp fseprcawqs lniplprsdv gtkrdigtqt vglfypsgkl lakkeqelas
      481 qkqrqekmsd hkplltaisp grgywrrqld hisahlrcya qnnpefrali aeprmgklis
      541 atvhedgcev sirlnysqvs nknlylnkav nfsdhllssa aegdgglcgs rsswvsdysq
      601 stsdtiekik riknfktktf qekkeqlipe nrlllkevgp tgegrvsvie qlldegadpn
      661 ccdednrpvi tvavmnkhhe aipvlvqrga didqqwgplr ntalheatll glagrestat
      721 llgcnasiqk knaggqtayd lalntgddlv tslfaakfgq gledqlaqtr slslddc
//
LOCUS       NP_001357005             875 aa            linear   PRI 25-DEC-2022
DEFINITION  GATOR complex protein MIOS isoform 1 [Homo sapiens].
ACCESSION   NP_001357005 XP_005249837
VERSION     NP_001357005.1
DBSOURCE    REFSEQ: accession NM_001370076.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 875)
  AUTHORS   Peng M, Yin N and Li MO.
  TITLE     SZT2 dictates GATOR control of mTORC1 signalling
  JOURNAL   Nature 543 (7645), 433-437 (2017)
   PUBMED   28199315
  REMARK    Erratum:[Nature. 2018 May 16;:. PMID: 29769712]
REFERENCE   2  (residues 1 to 875)
  AUTHORS   Wolfson RL, Chantranupong L, Wyant GA, Gu X, Orozco JM, Shen K,
            Condon KJ, Petri S, Kedir J, Scaria SM, Abu-Remaileh M, Frankel WN
            and Sabatini DM.
  TITLE     KICSTOR recruits GATOR1 to the lysosome and is necessary for
            nutrients to regulate mTORC1
  JOURNAL   Nature 543 (7645), 438-442 (2017)
   PUBMED   28199306
REFERENCE   3  (residues 1 to 875)
  AUTHORS   Chantranupong L, Scaria SM, Saxton RA, Gygi MP, Shen K, Wyant GA,
            Wang T, Harper JW, Gygi SP and Sabatini DM.
  TITLE     The CASTOR Proteins Are Arginine Sensors for the mTORC1 Pathway
  JOURNAL   Cell 165 (1), 153-164 (2016)
   PUBMED   26972053
REFERENCE   4  (residues 1 to 875)
  AUTHORS   Saxton RA, Knockenhauer KE, Wolfson RL, Chantranupong L, Pacold ME,
            Wang T, Schwartz TU and Sabatini DM.
  TITLE     Structural basis for leucine sensing by the Sestrin2-mTORC1 pathway
  JOURNAL   Science 351 (6268), 53-58 (2016)
   PUBMED   26586190
REFERENCE   5  (residues 1 to 875)
  AUTHORS   Wolfson RL, Chantranupong L, Saxton RA, Shen K, Scaria SM, Cantor
            JR and Sabatini DM.
  TITLE     Sestrin2 is a leucine sensor for the mTORC1 pathway
  JOURNAL   Science 351 (6268), 43-48 (2016)
   PUBMED   26449471
REFERENCE   6  (residues 1 to 875)
  AUTHORS   Wei Y, Reveal B, Reich J, Laursen WJ, Senger S, Akbar T, Iida-Jones
            T, Cai W, Jarnik M and Lilly MA.
  TITLE     TORC1 regulators Iml1/GATOR1 and GATOR2 control meiotic entry and
            oocyte development in Drosophila
  JOURNAL   Proc Natl Acad Sci U S A 111 (52), E5670-E5677 (2014)
   PUBMED   25512509
REFERENCE   7  (residues 1 to 875)
  AUTHORS   Chantranupong L, Wolfson RL, Orozco JM, Saxton RA, Scaria SM,
            Bar-Peled L, Spooner E, Isasa M, Gygi SP and Sabatini DM.
  TITLE     The Sestrins interact with GATOR2 to negatively regulate the
            amino-acid-sensing pathway upstream of mTORC1
  JOURNAL   Cell Rep 9 (1), 1-8 (2014)
   PUBMED   25263562
REFERENCE   8  (residues 1 to 875)
  AUTHORS   Bar-Peled L, Chantranupong L, Cherniack AD, Chen WW, Ottina KA,
            Grabiner BC, Spear ED, Carter SL, Meyerson M and Sabatini DM.
  TITLE     A Tumor suppressor complex with GAP activity for the Rag GTPases
            that signal amino acid sufficiency to mTORC1
  JOURNAL   Science 340 (6136), 1100-1106 (2013)
   PUBMED   23723238
REFERENCE   9  (residues 1 to 875)
  AUTHORS   Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H,
            Elsasser HP, Mann M and Hasilik A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
REFERENCE   10 (residues 1 to 875)
  AUTHORS   Iida T and Lilly MA.
  TITLE     missing oocyte encodes a highly conserved nuclear protein required
            for the maintenance of the meiotic cycle and oocyte identity in
            Drosophila
  JOURNAL   Development 131 (5), 1029-1039 (2004)
   PUBMED   14973288
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004982.1.
            On Apr 25, 2019 this sequence version replaced XP_005249837.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.178776.1,
                                           SRR1803611.138367.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..875
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.3"
     Protein         1..875
                     /product="GATOR complex protein MIOS isoform 1"
                     /note="WD repeat-containing protein mio; H_DJ1159O04.1;
                     WUGSC:H_DJ1159O04.1; missing oocyte, meiosis regulator,
                     homolog; GATOR complex protein MIOS"
                     /calculated_mol_wt=98454
     Region          58..100
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXC5.2)"
     Region          64..105
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          111..155
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXC5.2)"
     Region          112..>299
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          116..176
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          182..221
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXC5.2)"
     Region          188..220
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          223..261
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXC5.2)"
     Region          227..264
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          265..306
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXC5.2)"
     Region          270..318
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          325..347
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          395..437
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXC5.2)"
     Site            759
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NXC5.2)"
     Site            766
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9NXC5.2)"
     Region          782..858
                     /region_name="mRING-H2-C3H3C2_Mio"
                     /note="Modified RING finger, H2 subclass (C3H3C2-type),
                     found in WD repeat-containing protein mio and simialr
                     proteins; cd16691"
                     /db_xref="CDD:438352"
     CDS             1..875
                     /gene="MIOS"
                     /gene_synonym="MIO; Sea4; Yulink"
                     /coded_by="NM_001370076.1:328..2955"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS43554.1"
                     /db_xref="GeneID:54468"
                     /db_xref="HGNC:HGNC:21905"
                     /db_xref="MIM:615359"
ORIGIN      
        1 msgtkpdilw aphhvdrfvv cdselslyhv estvnselka gslrlsedsa atllsinsdt
       61 pymkcvawyl nydpecllav gqangrvvlt slgqdhnskf kdligkefvp kharqcntla
      121 wnpldsnwla agldkhradf svliwdicsk ytpdivpmek vklsagetet tllvtkplye
      181 lgqndaclsl cwlprdqkll lagmhrnlai fdlrntsqkm fvntkavqgv tvdpyfhdrv
      241 asfyegqvai wdlrkfekpv ltlteqpkpl tkvawcptrt gllatltrds niirlydmqh
      301 tptpigdete ptiiersvqp cdnyiasfaw hptsqnrmiv vtpnrtmsdf tvferislaw
      361 spitslmwac grhlyectee endnslekdi atkmrlrals rygldteqvw rnhilagned
      421 pqlkslwytl hfmkqytedm dqkspgnkgs lvyagiksiv ksslgmvess rhnwsgldkq
      481 sdiqnlneer ilalqlcgwi kkgtdvdvgp flnslvqege weraaavalf nldirraiqi
      541 lnegassekg dlnlnvvama lsgytdekns lwremcstlr lqlnnpylcv mfafltsetg
      601 sydgvlyenk vavrdrvafa ckflsdtqln ryiekltnem keagnlegil ltgltkdgvd
      661 lmesyvdrtg dvqtasycml qgspldvlkd ervqywieny rnlldawrfw hkraefdihr
      721 skldpsskpl aqvfvscnfc gksisyscsa vphqgrgfsq ygvsgsptks kvtscpgcrk
      781 plprcalcli nmgtpvsscp ggtksdekvd lskdkklaqf nnwftwchnc rhgghaghml
      841 swfrdhaecp vsactckcmq ldttgnlvpa etvqp
//
LOCUS       NP_002524                856 aa            linear   PRI 25-DEC-2022
DEFINITION  nuclear valosin-containing protein-like isoform 1 [Homo sapiens].
ACCESSION   NP_002524
VERSION     NP_002524.2
DBSOURCE    REFSEQ: accession NM_002533.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 856)
  AUTHORS   Ishida YI, Miyao S, Saito M, Hiraishi N and Nagahama M.
  TITLE     Interactome analysis of the Tudor domain-containing protein SPF30
            which associates with the MTR4-exosome RNA-decay machinery under
            the regulation of AAA-ATPase NVL2
  JOURNAL   Int J Biochem Cell Biol 132, 105919 (2021)
   PUBMED   33422691
  REMARK    GeneRIF: Interactome analysis of the Tudor domain-containing
            protein SPF30 which associates with the MTR4-exosome RNA-decay
            machinery under the regulation of AAA-ATPase NVL2.
REFERENCE   2  (residues 1 to 856)
  AUTHORS   Lingaraju M, Johnsen D, Schlundt A, Langer LM, Basquin J, Sattler
            M, Heick Jensen T, Falk S and Conti E.
  TITLE     The MTR4 helicase recruits nuclear adaptors of the human RNA
            exosome using distinct arch-interacting motifs
  JOURNAL   Nat Commun 10 (1), 3393 (2019)
   PUBMED   31358741
  REMARK    GeneRIF: Data show that the nuclear exosome adaptors nuclear
            valosin-containing protein-like (NVL) and zinc finger, CCHC domain
            containing 8 protein (ZCCHC8) bind the Mtr4 exosome RNA helicase
            (MTR4) KOW domain on a surface.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 856)
  AUTHORS   Hiraishi N, Ishida YI, Sudo H and Nagahama M.
  TITLE     WDR74 participates in an early cleavage of the pre-rRNA processing
            pathway in cooperation with the nucleolar AAA-ATPase NVL2
  JOURNAL   Biochem Biophys Res Commun 495 (1), 116-123 (2018)
   PUBMED   29107693
  REMARK    GeneRIF: knockdown of WDR74 leads to significant defects in the
            pre-rRNA cleavage within the internal transcribed spacer 1,
            occurring in an early stage of the processing pathway. When the
            dissociation of WDR74 from the MTR4-containing exonuclease complex
            was impaired upon expression of mutant NVL2, the same processing
            defect, with partial migration of WDR74 from the nucleolus towards
            the nucleoplasm, was observed.
REFERENCE   4  (residues 1 to 856)
  AUTHORS   Lo YH, Romes EM, Pillon MC, Sobhany M and Stanley RE.
  TITLE     Structural Analysis Reveals Features of Ribosome Assembly Factor
            Nsa1/WDR74 Important for Localization and Interaction with
            Rix7/NVL2
  JOURNAL   Structure 25 (5), 762-772 (2017)
   PUBMED   28416111
REFERENCE   5  (residues 1 to 856)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   6  (residues 1 to 856)
  AUTHORS   Oguri M, Kato K, Yokoi K, Yoshida T, Watanabe S, Metoki N, Yoshida
            H, Satoh K, Aoyagi Y, Nozawa Y and Yamada Y.
  TITLE     Assessment of a polymorphism of SDK1 with hypertension in Japanese
            Individuals
  JOURNAL   Am J Hypertens 23 (1), 70-77 (2010)
   PUBMED   19851296
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 856)
  AUTHORS   Nagahama M, Yamazoe T, Hara Y, Tani K, Tsuji A and Tagaya M.
  TITLE     The AAA-ATPase NVL2 is a component of pre-ribosomal particles that
            interacts with the DExD/H-box RNA helicase DOB1
  JOURNAL   Biochem Biophys Res Commun 346 (3), 1075-1082 (2006)
   PUBMED   16782053
  REMARK    GeneRIF: Nuclear VCP/p97-like protein 2 might regulate the
            association/dissociation reaction of DOB1 with pre-ribosomal
            particles by acting as a molecular chaperone.
REFERENCE   8  (residues 1 to 856)
  AUTHORS   Nagahama M, Hara Y, Seki A, Yamazoe T, Kawate Y, Shinohara T,
            Hatsuzawa K, Tani K and Tagaya M.
  TITLE     NVL2 is a nucleolar AAA-ATPase that interacts with ribosomal
            protein L5 through its nucleolar localization sequence
  JOURNAL   Mol Biol Cell 15 (12), 5712-5723 (2004)
   PUBMED   15469983
  REMARK    GeneRIF: interaction of NVL2 with ribosomal protein L5 is
            ATP-dependent and likely contributes to the nucleolar translocation
            of NVL2
REFERENCE   9  (residues 1 to 856)
  AUTHORS   Scherl A, Coute Y, Deon C, Calle A, Kindbeiter K, Sanchez JC, Greco
            A, Hochstrasser D and Diaz JJ.
  TITLE     Functional proteomic analysis of human nucleolus
  JOURNAL   Mol Biol Cell 13 (11), 4100-4109 (2002)
   PUBMED   12429849
REFERENCE   10 (residues 1 to 856)
  AUTHORS   Germain-Lee EL, Obie C and Valle D.
  TITLE     NVL: a new member of the AAA family of ATPases localized to the
            nucleus
  JOURNAL   Genomics 44 (1), 22-34 (1997)
   PUBMED   9286697
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP284587.1, AK293923.1,
            U68140.1, AC092809.2 and BU683548.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 23, 2004 this sequence version replaced NP_002524.1.
            
            Summary: This gene encodes a member of the AAA (ATPases associated
            with diverse cellular activities) superfamily. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            Two encoded proteins, described as major and minor isoforms, have
            been localized to distinct regions of the nucleus. The largest
            encoded protein (major isoform) has been localized to the nucleolus
            and shown to participate in ribosome biosynthesis (PMID: 15469983,
            16782053), while the minor isoform has been localized to the
            nucleoplasmin. [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (isoform 1, also known
            as NVL.2 or the major isoform).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U68140.1, SRR1660809.25222.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000281701.11/ ENSP00000281701.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..856
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.11"
     Protein         1..856
                     /product="nuclear valosin-containing protein-like isoform
                     1"
                     /note="NVLp; nuclear valosin-containing protein-like"
                     /calculated_mol_wt=94920
     Region          1..220
                     /region_name="Interaction with RPL5.
                     /evidence=ECO:0000269|PubMed:15469983"
                     /note="propagated from UniProtKB/Swiss-Prot (O15381.1)"
     Region          2..72
                     /region_name="Nucleolin_bd"
                     /note="Nucleolin binding domain; pfam16725"
                     /db_xref="CDD:435539"
     Region          49..52
                     /region_name="Nucleolar localization signal.
                     /evidence=ECO:0000269|PubMed:15469983"
                     /note="propagated from UniProtKB/Swiss-Prot (O15381.1)"
     Site            70
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9DBY8; propagated from
                     UniProtKB/Swiss-Prot (O15381.1)"
     Region          84..175
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15381.1)"
     Region          85..88
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000269|PubMed:15469983"
                     /note="propagated from UniProtKB/Swiss-Prot (O15381.1)"
     Site            134
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O15381.1)"
     Site            138
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O15381.1)"
     Site            156
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9DBY8; propagated from
                     UniProtKB/Swiss-Prot (O15381.1)"
     Site            191
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9DBY8; propagated from
                     UniProtKB/Swiss-Prot (O15381.1)"
     Region          197..236
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15381.1)"
     Site            211
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O15381.1)"
     Site            215
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O15381.1)"
     Region          218..232
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000269|PubMed:15469983"
                     /note="propagated from UniProtKB/Swiss-Prot (O15381.1)"
     Region          <243..856
                     /region_name="CDC48"
                     /note="AAA family ATPase, CDC48 subfamily; TIGR01243"
                     /db_xref="CDD:273521"
     Region          267..474
                     /region_name="Interaction with WDR74.
                     /evidence=ECO:0000269|PubMed:28416111"
                     /note="propagated from UniProtKB/Swiss-Prot (O15381.1)"
     Region          496..523
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15381.1)"
     CDS             1..856
                     /gene="NVL"
                     /gene_synonym="NVL2"
                     /coded_by="NM_002533.4:46..2616"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1541.1"
                     /db_xref="GeneID:4931"
                     /db_xref="HGNC:HGNC:8070"
                     /db_xref="MIM:602426"
ORIGIN      
        1 mkprpagfvd nklkqrviqy ltsnkcgkyv digvlasdlq rvysidygrr krnafriqve
       61 kvfsiissek elknlteled ehlakrarqg eedneytesy sdddssmedy pdpqsanhmn
      121 ssllslyrkg npdsvsntpe meqrettsst prissktgsi plktpakdse ggwfidktps
      181 vkkdsffldl sceksnpkkp iteiqdskds sllesdmkrk gklknkgskr kkedlqevdg
      241 eieavlqkka karglefqis nvkfedvggn dmtlkevckm lihmrhpevy hhlgvvpprg
      301 vllhgppgcg ktllahaiag eldlpilkva apeivsgvsg eseqklrelf eqavsnapci
      361 ifideidait pkrevaskdm errivaqllt cmddlnnvaa tarvlvigat nrpdsldpal
      421 rragrfdrei clgipdeasr erilqtlcrk lrlpqafdfc hlahltpgfv gadlmalcre
      481 aamcavnrvl mklqeqqkkn pemedlpskg vqeerlgtep tsetqdelqr llgllrdqdp
      541 lseeqmqglc ielndfival ssvqpsakre gfvtvpnvtw adigaledir eeltmailap
      601 vrnpdqfkal glvtpagvll agppgcgktl lakavanesg lnfisvkgpe llnmyvgese
      661 ravrqvfqra knsapcviff devdalcprr sdretgasvr vvnqlltemd glearqqvfi
      721 maatnrpdii dpailrpgrl dktlfvglpp padrlailkt itkngtkppl dadvnleaia
      781 gdlrcdcytg adlsalvrea sicalrqema rqksgnekge lkvshkhfee afkkvrssis
      841 kkdqimyerl qeslsr
//
LOCUS       NP_001357435             225 aa            linear   PRI 25-DEC-2022
DEFINITION  phosphoserine phosphatase [Homo sapiens].
ACCESSION   NP_001357435 XP_005271833
VERSION     NP_001357435.1
DBSOURCE    REFSEQ: accession NM_001370506.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 225)
  AUTHORS   Rawat V, Malvi P, Della Manna D, Yang ES, Bugide S, Zhang X, Gupta
            R and Wajapeyee N.
  TITLE     PSPH promotes melanoma growth and metastasis by metabolic
            deregulation-mediated transcriptional activation of NR4A1
  JOURNAL   Oncogene 40 (13), 2448-2462 (2021)
   PUBMED   33674745
  REMARK    GeneRIF: PSPH promotes melanoma growth and metastasis by metabolic
            deregulation-mediated transcriptional activation of NR4A1.
REFERENCE   2  (residues 1 to 225)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 225)
  AUTHORS   Park SM, Seo EH, Bae DH, Kim SS, Kim J, Lin W, Kim KH, Park JB, Kim
            YS, Yin J and Kim SY.
  TITLE     Phosphoserine Phosphatase Promotes Lung Cancer Progression through
            the Dephosphorylation of IRS-1 and a Noncanonical
            L-Serine-Independent Pathway
  JOURNAL   Mol Cells 42 (8), 604-616 (2019)
   PUBMED   31446747
  REMARK    GeneRIF: a specific interaction between PSPH and IRS1 and the
            dephosphorylation of phospho-IRS-1 by PSPH in lung cancer cells,
            was identified.
REFERENCE   4  (residues 1 to 225)
  AUTHORS   Haufroid M, Mirgaux M, Leherte L and Wouters J.
  TITLE     Crystal structures and snapshots along the reaction pathway of
            human phosphoserine phosphatase
  JOURNAL   Acta Crystallogr D Struct Biol 75 (Pt 6), 592-604 (2019)
   PUBMED   31205021
  REMARK    GeneRIF: three new high-resolution crystal structures of hPSP
            (1.5-2.0 A) in complexes with phosphoserine and with serine, which
            are the substrate and the product of the reaction, respectively,
            and in complex with a noncleavable substrate analogue (homocysteic
            acid) are presented.
REFERENCE   5  (residues 1 to 225)
  AUTHORS   Liao L, Ge M, Zhan Q, Huang R, Ji X, Liang X and Zhou X.
  TITLE     PSPH Mediates the Metastasis and Proliferation of Non-small Cell
            Lung Cancer through MAPK Signaling Pathways
  JOURNAL   Int J Biol Sci 15 (1), 183-194 (2019)
   PUBMED   30662358
  REMARK    GeneRIF: The results suggest that PSPH may act as a putative
            oncogene and a potential therapeutic target in NSCLC.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 225)
  AUTHORS   Veeranna and Shetty KT.
  TITLE     Phosphoserine phosphatase of human brain: partial purification,
            characterization, regional distribution, and effect of certain
            modulators including psychoactive drugs
  JOURNAL   Neurochem Res 15 (12), 1203-1210 (1990)
   PUBMED   1965857
REFERENCE   7  (residues 1 to 225)
  AUTHORS   Minelli A, Piantanida M, Maserati E, Campagnoli E, Pasquali F and
            Danesino C.
  TITLE     Gene dosage effect in acquired monosomy 7: distinct behaviour of
            beta-glucuronidase and phosphoserine phosphatase
  JOURNAL   Genes Chromosomes Cancer 1 (3), 216-220 (1990)
   PUBMED   1964582
REFERENCE   8  (residues 1 to 225)
  AUTHORS   Novelli G and Dallapiccola B.
  TITLE     Gene dosage studies regionally assign the phosphoserine phosphatase
            gene to 7p15.1 or 2
  JOURNAL   Ann Genet 31 (3), 195-196 (1988)
   PUBMED   2851960
REFERENCE   9  (residues 1 to 225)
  AUTHORS   Koch,G.A., Eddy,R.L., Haley,L.L., Byers,M.G., McAvoy,M. and
            Shows,T.B.
  TITLE     Assignment of the human phosphoserine phosphatase gene (PSP) to the
            pter leads to q22 region of chromosome 7
  JOURNAL   Cytogenet Cell Genet 35 (1), 67-69 (1983)
   PUBMED   6297854
REFERENCE   10 (residues 1 to 225)
  AUTHORS   Moro-Furlani,A.M., Turner,V.S. and Hopkinson,D.A.
  TITLE     Genetical and biochemical studies on human phosphoserine
            phosphatase
  JOURNAL   Ann Hum Genet 43 (4), 323-333 (1980)
   PUBMED   6249179
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092579.3.
            On May 9, 2019 this sequence version replaced XP_005271833.1.
            
            Summary: The protein encoded by this gene belongs to a subfamily of
            the phosphotransferases. This encoded enzyme is responsible for the
            third and last step in L-serine formation. It catalyzes
            magnesium-dependent hydrolysis of L-phosphoserine and is also
            involved in an exchange reaction between L-serine and
            L-phosphoserine. Deficiency of this protein is thought to be linked
            to Williams syndrome. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.88901.1,
                                           SRR3476690.855589.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..225
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p11.2"
     Protein         1..225
                     /product="phosphoserine phosphatase"
                     /EC_number="3.1.3.3"
                     /note="L-3-phosphoserine phosphatase; O-phosphoserine
                     phosphohydrolase; PSPase"
                     /calculated_mol_wt=24877
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P78330.2)"
     Region          15..216
                     /region_name="HAD_PSP_eu"
                     /note="phosphoserine phosphatase eukaryotic-like, similar
                     to human phosphoserine phosphatase; cd04309"
                     /db_xref="CDD:319801"
     Site            order(20..24,29,109..110,158,178..179,182..183)
                     /site_type="active"
                     /db_xref="CDD:319801"
     CDS             1..225
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /coded_by="NM_001370506.1:713..1390"
                     /db_xref="CCDS:CCDS5522.1"
                     /db_xref="GeneID:5723"
                     /db_xref="HGNC:HGNC:9577"
                     /db_xref="MIM:172480"
ORIGIN      
        1 mvshselrkl fysadavcfd vdstvireeg idelakicgv edavsemtrr amggavpfka
       61 alterlaliq psreqvqrli aeqpphltpg irelvsrlqe rnvqvflisg gfrsivehva
      121 sklnipatnv fanrlkfyfn geyagfdetq ptaesggkgk vikllkekfh fkkiimigdg
      181 atdmeacppa dafigfggnv irqqvkdnak wyitdfvell gelee
//
LOCUS       NP_001337444             313 aa            linear   PRI 26-DEC-2022
DEFINITION  protein disulfide-isomerase TMX3 isoform 5 [Homo sapiens].
ACCESSION   NP_001337444 XP_005266771
VERSION     NP_001337444.1
DBSOURCE    REFSEQ: accession NM_001350515.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 313)
  AUTHORS   Zhang X, Gibhardt CS, Will T, Stanisz H, Korbel C, Mitkovski M,
            Stejerean I, Cappello S, Pacheu-Grau D, Dudek J, Tahbaz N, Mina L,
            Simmen T, Laschke MW, Menger MD, Schon MP, Helms V, Niemeyer BA,
            Rehling P, Vultur A and Bogeski I.
  TITLE     Redox signals at the ER-mitochondria interface control melanoma
            progression
  JOURNAL   EMBO J 38 (15), e100871 (2019)
   PUBMED   31304984
  REMARK    GeneRIF: Data show that TMX3 expression is upregulated in melanoma
            cell lines and patient samples. TMX knockdown altered mitochondrial
            organization, enhanced bioenergetics, and elevated mitochondrial-
            and NOX4-derived ROS. The TMX-knockdown-induced oxidative stress
            suppressed melanoma proliferation, migration, and xenograft tumor
            growth by inhibiting NFAT1. TMX1 is associated with poor disease
            outcome.
REFERENCE   2  (residues 1 to 313)
  AUTHORS   Yang L, Neale BM, Liu L, Lee SH, Wray NR, Ji N, Li H, Qian Q, Wang
            D, Li J, Faraone SV and Wang Y.
  CONSRTM   Psychiatric GWAS Consortium: ADHD Subgroup
  TITLE     Polygenic transmission and complex neuro developmental network for
            attention deficit hyperactivity disorder: genome-wide association
            study of both common and rare variants
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 162B (5), 419-430 (2013)
   PUBMED   23728934
REFERENCE   3  (residues 1 to 313)
  AUTHORS   Galligan JJ and Petersen DR.
  TITLE     The human protein disulfide isomerase gene family
  JOURNAL   Hum Genomics 6 (1), 6 (2012)
   PUBMED   23245351
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 313)
  AUTHORS   Chao R, Nevin L, Agarwal P, Riemer J, Bai X, Delaney A, Akana M,
            JimenezLopez N, Bardakjian T, Schneider A, Chassaing N, Schorderet
            DF, FitzPatrick D, Kwok PY, Ellgaard L, Gould DB, Zhang Y, Malicki
            J, Baier H and Slavotinek A.
  TITLE     A male with unilateral microphthalmia reveals a role for TMX3 in
            eye development
  JOURNAL   PLoS One 5 (5), e10565 (2010)
   PUBMED   20485507
  REMARK    GeneRIF: Haploinsufficiency for TMX3 results in a small eye
            phenotype and represents a novel genetic cause of microphthalmia
            and coloboma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 313)
  AUTHORS   Holbrook LM, Watkins NA, Simmonds AD, Jones CI, Ouwehand WH and
            Gibbins JM.
  TITLE     Platelets release novel thiol isomerase enzymes which are recruited
            to the cell surface following activation
  JOURNAL   Br J Haematol 148 (4), 627-637 (2010)
   PUBMED   19995400
REFERENCE   6  (residues 1 to 313)
  AUTHORS   Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G,
            Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK,
            Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek
            WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT,
            McManus R, van Heel DA and Wijmenga C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 313)
  AUTHORS   Haugstetter J, Maurer MA, Blicher T, Pagac M, Wider G and Ellgaard
            L.
  TITLE     Structure-function analysis of the endoplasmic reticulum
            oxidoreductase TMX3 reveals interdomain stabilization of the
            N-terminal redox-active domain
  JOURNAL   J Biol Chem 282 (46), 33859-33867 (2007)
   PUBMED   17881353
  REMARK    GeneRIF: analysis of TMX3 interdomain stabilization of the
            N-terminal redox-active domain
REFERENCE   8  (residues 1 to 313)
  AUTHORS   Haugstetter J, Blicher T and Ellgaard L.
  TITLE     Identification and characterization of a novel thioredoxin-related
            transmembrane protein of the endoplasmic reticulum
  JOURNAL   J Biol Chem 280 (9), 8371-8380 (2005)
   PUBMED   15623505
  REMARK    GeneRIF: TMX3 is a thioredoxin-related transmembrane protein of the
            endoplasmic reticulum
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK310389.1, BC143400.1,
            AL832341.1 and BX647846.1.
            On Apr 15, 2017 this sequence version replaced XP_005266771.1.
            
            Summary: This gene encodes a member of the disulfide isomerase
            (PDI) family of endoplasmic reticulum (ER) proteins that catalyze
            protein folding and thiol-disulfide interchange reactions. The
            canonical protein encoded by this gene has an N-terminal ER-signal
            sequence, a catalytically active thioredoxin domain, one
            transmembrane domain and a C-terminal ER-retention sequence. This
            gene is expressed in many tissues but has its highest expression in
            heart and skeletal muscle. It is expressed in the retinal
            neuroepithelium and lens epithelium in the developing murine eye
            and haploinsufficiency of this gene in humans and zebrafish is
            associated with microphthalmia. Alternative splicing results in
            multiple transcript variants encoding distinct isoforms. [provided
            by RefSeq, Apr 2017].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.251809.1,
                                           SRR1660803.155546.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q22.1"
     Protein         1..313
                     /product="protein disulfide-isomerase TMX3 isoform 5"
                     /EC_number="5.3.4.1"
                     /note="protein disulfide isomerase family A, member 13;
                     thioredoxin domain containing 10; protein
                     disulfide-isomerase TMX3; thioredoxin domain-containing
                     protein 10"
                     /calculated_mol_wt=35857
     Region          19..197
                     /region_name="Thioredoxin_6"
                     /note="Thioredoxin-like domain; pfam13848"
                     /db_xref="CDD:404691"
     CDS             1..313
                     /gene="TMX3"
                     /gene_synonym="PDIA13; TXNDC10"
                     /coded_by="NM_001350515.2:505..1446"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:54495"
                     /db_xref="HGNC:HGNC:24718"
                     /db_xref="MIM:616102"
ORIGIN      
        1 mfehmqkrhr vffvyvgges plkekyidaa selivytyff saseevvpey vtlkempavl
       61 vfkdetyfvy deyedgdlss winrerfqny lamdgfllye lgdtgklval avidekntsv
      121 ehtrlksiiq evardyrdlf hrdfqfghmd gndyintllm deltvptvvv lntsnqqyfl
      181 ldrqiknved mvqfinnild gtveaqggds ilqrlkrivf dakstivsif kssplmgcfl
      241 fglplgvisi mcygiytadt dggyieerye vsksenenqe qieeskeqqe pssggsvvpt
      301 vqepkdvlek kkd
//
LOCUS       NP_001188301             434 aa            linear   PRI 26-DEC-2022
DEFINITION  coiled-coil domain-containing protein 136 isoform 2 [Homo sapiens].
ACCESSION   NP_001188301
VERSION     NP_001188301.1
DBSOURCE    REFSEQ: accession NM_001201372.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 434)
  AUTHORS   Adams AK, Smith SD, Truong DT, Willcutt EG, Olson RK, DeFries JC,
            Pennington BF and Gruen JR.
  TITLE     Enrichment of putatively damaging rare variants in the DYX2 locus
            and the reading-related genes CCDC136 and FLNC
  JOURNAL   Hum Genet 136 (11-12), 1395-1405 (2017)
   PUBMED   28866788
  REMARK    GeneRIF: Missense variant in CCDC136 gene is associated with
            reading disability.
REFERENCE   2  (residues 1 to 434)
  AUTHORS   Gialluisi A, Newbury DF, Wilcutt EG, Olson RK, DeFries JC, Brandler
            WM, Pennington BF, Smith SD, Scerri TS, Simpson NH, Luciano M,
            Evans DM, Bates TC, Stein JF, Talcott JB, Monaco AP, Paracchini S,
            Francks C and Fisher SE.
  CONSRTM   SLI Consortium
  TITLE     Genome-wide screening for DNA variants associated with reading and
            language traits
  JOURNAL   Genes Brain Behav 13 (7), 686-701 (2014)
   PUBMED   25065397
  REMARK    GeneRIF: CCDC136 locus showed association with a comparable
            reading/language measure.
REFERENCE   3  (residues 1 to 434)
  AUTHORS   Zhang XM, Sheng SR, Wang XY, Bin LH, Wang JR and Li GY.
  TITLE     Expression of tumor related gene NAG6 in gastric cancer and
            restriction fragment length polymorphism analysis
  JOURNAL   World J Gastroenterol 10 (9), 1361-1364 (2004)
   PUBMED   15112360
  REMARK    GeneRIF: Data suggest that NAG6 may represent a candidate tumor
            suppressor gene at 7q31-32 loci associated with gastric carcinoma.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DR003042.1, AK124447.1 and AI611323.1.
            
            Transcript Variant: This variant (2) contains an alternate in-frame
            exon in the 5' coding region, uses an upstream start codon, and
            lacks nine exons in the 3' coding region, compared to variant 1.
            The resulting protein (isoform 2) is shorter and has a distinct
            N-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1078775.1,
                                           SRR3476690.507682.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.1"
     Protein         1..434
                     /product="coiled-coil domain-containing protein 136
                     isoform 2"
                     /note="coiled-coil domain-containing protein 136;
                     nasopharyngeal carcinoma-associated gene 6 protein"
                     /calculated_mol_wt=49319
     Region          103..>394
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..434
                     /gene="CCDC136"
                     /gene_synonym="NAG6"
                     /coded_by="NM_001201372.2:57..1361"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS56510.1"
                     /db_xref="GeneID:64753"
                     /db_xref="HGNC:HGNC:22225"
                     /db_xref="MIM:611902"
ORIGIN      
        1 meagagagag aagwscpgpg ptvttlgsye asegcerkkg qrwgslerrg mqamegevll
       61 palyeeeeee eeeeeeveee eeqvqkggsv gslsvnkhrg lsltetelee lraqvlqlva
      121 eleetrelag qheddslelq gllederlas aqqaevftkq iqqlqgelrs lreeislleh
      181 ekeselkeie qelhlaqaei qslrqaaeds atehesdias lqedlcrmqn eledmerirg
      241 dyemeiaslr aememkssep seelqelrer yhflneeyra lqesnssltg qladlesert
      301 qraterwlqs qtlsmtsaes qtsemdflep dpemqllrqq lrdaeeqmhg mknkcqelcc
      361 eleelqhhrq vseeeqrrlq relkcaqnev lrfqtshsvt qssptpnppi fslplvglvv
      421 isallwcwwa etss
//
LOCUS       NP_001337253             319 aa            linear   PRI 26-DEC-2022
DEFINITION  transcription initiation protein SPT3 homolog isoform 4 [Homo
            sapiens].
ACCESSION   NP_001337253 XP_011513252
VERSION     NP_001337253.1
DBSOURCE    REFSEQ: accession NM_001350324.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 319)
  AUTHORS   Rice SJ, Aubourg G, Sorial AK, Almarza D, Tselepi M, Deehan DJ,
            Reynard LN and Loughlin J.
  TITLE     Identification of a novel, methylation-dependent, RUNX2 regulatory
            region associated with osteoarthritis risk
  JOURNAL   Hum Mol Genet 27 (19), 3464-3474 (2018)
   PUBMED   30010910
  REMARK    GeneRIF: Here, genotype at an Osteoarthritis (OA) risk locus
            correlates with differential DNA methylation, with altered gene
            expression of both a transcriptional regulator (RUNX2), and a
            chromatin remodelling protein (SUPT3H).
REFERENCE   2  (residues 1 to 319)
  AUTHORS   de Vries PS, Boender J, Sonneveld MA, Rivadeneira F, Ikram MA,
            Rottensteiner H, Hofman A, Uitterlinden AG, Leebeek FW, Franco OH,
            Dehghan A and de Maat MP.
  TITLE     Genetic variants in the ADAMTS13 and SUPT3H genes are associated
            with ADAMTS13 activity
  JOURNAL   Blood 125 (25), 3949-3955 (2015)
   PUBMED   25934476
  REMARK    GeneRIF: we identified rs41314453 as the main genetic determinant
            of ADAMTS13 activity, and we present preliminary findings for
            further associations at the ADAMTS13 and SUPT3H loci.
REFERENCE   3  (residues 1 to 319)
  AUTHORS   Nakamura Y, Kayano H, Kakegawa E, Miyazaki H, Nagai T, Uchida Y,
            Ito Y, Wakimoto N, Mori S and Bessho M.
  TITLE     Identification of SUPT3H as a novel 8q24/MYC partner in blastic
            plasmacytoid dendritic cell neoplasm with t(6;8)(p21;q24)
            translocation
  JOURNAL   Blood Cancer J 5 (4), e301 (2015)
   PUBMED   25860292
  REMARK    GeneRIF: significance of the formation PVT1- SUPT3H chimeric gene
            remains unknown and the overexpression of MYC by ectopic promoter
            on chromosome 6 may be essential to tumor genesis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 319)
  AUTHORS   He M, Xu M, Zhang B, Liang J, Chen P, Lee JY, Johnson TA, Li H,
            Yang X, Dai J, Liang L, Gui L, Qi Q, Huang J, Li Y, Adair LS, Aung
            T, Cai Q, Cheng CY, Cho MC, Cho YS, Chu M, Cui B, Gao YT, Go MJ, Gu
            D, Gu W, Guo H, Hao Y, Hong J, Hu Z, Hu Y, Huang J, Hwang JY, Ikram
            MK, Jin G, Kang DH, Khor CC, Kim BJ, Kim HT, Kubo M, Lee J, Lee J,
            Lee NR, Li R, Li J, Liu J, Longe J, Lu W, Lu X, Miao X, Okada Y,
            Ong RT, Qiu G, Seielstad M, Sim X, Song H, Takeuchi F, Tanaka T,
            Taylor PR, Wang L, Wang W, Wang Y, Wu C, Wu Y, Xiang YB, Yamamoto
            K, Yang H, Liao M, Yokota M, Young T, Zhang X, Kato N, Wang QK,
            Zheng W, Hu FB, Lin D, Shen H, Teo YY, Mo Z, Wong TY, Lin X, Mohlke
            KL, Ning G, Tsunoda T, Han BG, Shu XO, Tai ES, Wu T and Qi L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   5  (residues 1 to 319)
  AUTHORS   Nakajima M, Takahashi A, Tsuji T, Karasugi T, Baba H, Uchida K,
            Kawabata S, Okawa A, Shindo S, Takeuchi K, Taniguchi Y, Maeda S,
            Kashii M, Seichi A, Nakajima H, Kawaguchi Y, Fujibayashi S,
            Takahata M, Tanaka T, Watanabe K, Kida K, Kanchiku T, Ito Z, Mori
            K, Kaito T, Kobayashi S, Yamada K, Takahashi M, Chiba K, Matsumoto
            M, Furukawa K, Kubo M, Toyama Y and Ikegawa S.
  CONSRTM   Genetic Study Group of Investigation Committee on Ossification of
            the Spinal Ligaments
  TITLE     A genome-wide association study identifies susceptibility loci for
            ossification of the posterior longitudinal ligament of the spine
  JOURNAL   Nat Genet 46 (9), 1012-1016 (2014)
   PUBMED   25064007
REFERENCE   6  (residues 1 to 319)
  AUTHORS   Schiltz RL, Mizzen CA, Vassilev A, Cook RG, Allis CD and Nakatani
            Y.
  TITLE     Overlapping but distinct patterns of histone acetylation by the
            human coactivators p300 and PCAF within nucleosomal substrates
  JOURNAL   J Biol Chem 274 (3), 1189-1192 (1999)
   PUBMED   9880483
REFERENCE   7  (residues 1 to 319)
  AUTHORS   Yu J, Madison JM, Mundlos S, Winston F and Olsen BR.
  TITLE     Characterization of a human homologue of the Saccharomyces
            cerevisiae transcription factor spt3 (SUPT3H)
  JOURNAL   Genomics 53 (1), 90-96 (1998)
   PUBMED   9787080
REFERENCE   8  (residues 1 to 319)
  AUTHORS   Martinez E, Kundu TK, Fu J and Roeder RG.
  TITLE     A human SPT3-TAFII31-GCN5-L acetylase complex distinct from
            transcription factor IID
  JOURNAL   J Biol Chem 273 (37), 23781-23785 (1998)
   PUBMED   9726987
  REMARK    Erratum:[J Biol Chem 1998 Oct 16;273(42):27755]
REFERENCE   9  (residues 1 to 319)
  AUTHORS   Ogryzko VV, Kotani T, Zhang X, Schiltz RL, Howard T, Yang XJ,
            Howard BH, Qin J and Nakatani Y.
  TITLE     Histone-like TAFs within the PCAF histone acetylase complex
  JOURNAL   Cell 94 (1), 35-44 (1998)
   PUBMED   9674425
REFERENCE   10 (residues 1 to 319)
  AUTHORS   Wieczorek E, Brand M, Jacq X and Tora L.
  TITLE     Function of TAF(II)-containing complex without TBP in transcription
            by RNA polymerase II
  JOURNAL   Nature 393 (6681), 187-191 (1998)
   PUBMED   9603525
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL096865.28, AL138880.14, AL161905.15 and AL360272.23.
            On Apr 13, 2017 this sequence version replaced XP_011513252.1.
            
            Transcript Variant: This variant (4) encodes isoform 4.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.24060.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     Protein         1..319
                     /product="transcription initiation protein SPT3 homolog
                     isoform 4"
                     /note="transcription initiation protein SPT3 homolog;
                     SPT3-like protein; suppressor of Ty 3 homolog"
                     /calculated_mol_wt=35929
     Region          1..20
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75486.3)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O75486.3)"
     Region          24..116
                     /region_name="TFIID-18kDa"
                     /note="Transcription initiation factor IID, 18kD subunit;
                     pfam02269"
                     /db_xref="CDD:190265"
     CDS             1..319
                     /gene="SUPT3H"
                     /gene_synonym="SPT3; SPT3L"
                     /coded_by="NM_001350324.2:168..1127"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:8464"
                     /db_xref="HGNC:HGNC:11466"
                     /db_xref="MIM:602947"
ORIGIN      
        1 mnntaaspms tatsssgrst gksisfatel qsmmyslgda rrplhetavl vedvvhtqli
       61 nllqqaaevs qlrgarvitp edllflmrkd kkklrrllky mfirdykski vkgideddll
      121 edklsgsnna nkrqkiaqdf lnsidqtgel lamfeddeid evkqermera erqtrimdsa
      181 qyaefcesrq lsfskkaskf rdwldcssme ikpnvvamei laylayetva qlvdlallvr
      241 qdmvtkagdp fshaisatfi qyhnsaesta acgveahsda iqpchireai rryshrigpl
      301 spftetaaef hevlwivlp
//
LOCUS       NP_006191                913 aa            linear   PRI 27-DEC-2022
DEFINITION  proprotein convertase subtilisin/kexin type 5 isoform PC6A
            preproprotein [Homo sapiens].
ACCESSION   NP_006191 XP_002342982 XP_002346208 XP_002347099
VERSION     NP_006191.2
DBSOURCE    REFSEQ: accession NM_006200.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 913)
  AUTHORS   Petra E, Siwy J, Vlahou A and Jankowski J.
  TITLE     Urine peptidome in combination with transcriptomics analysis
            highlights MMP7, MMP14 and PCSK5 for further investigation in
            chronic kidney disease
  JOURNAL   PLoS One 17 (1), e0262667 (2022)
   PUBMED   35045102
  REMARK    GeneRIF: Urine peptidome in combination with transcriptomics
            analysis highlights MMP7, MMP14 and PCSK5 for further investigation
            in chronic kidney disease.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 913)
  AUTHORS   Hoac B, Susan-Resiga D, Essalmani R, Marcinkiweicz E, Seidah NG and
            McKee MD.
  TITLE     Osteopontin as a novel substrate for the proprotein convertase 5/6
            (PCSK5) in bone
  JOURNAL   Bone 107, 45-55 (2018)
   PUBMED   29126984
  REMARK    GeneRIF: this study demonstrates that Pcsk5 is expressed in
            bone-forming cells, and that OPN is a novel substrate for PC5/6
REFERENCE   3  (residues 1 to 913)
  AUTHORS   Essalmani R, Susan-Resiga D, Guillemot J, Kim W, Sachan V, Awan Z,
            Chamberland A, Asselin MC, Ly K, Desjardins R, Day R, Prat A and
            Seidah NG.
  TITLE     Thrombin activation of protein C requires prior processing by a
            liver proprotein convertase
  JOURNAL   J Biol Chem 292 (25), 10564-10573 (2017)
   PUBMED   28468828
  REMARK    GeneRIF: loss of the convertase furin or PC5/6 in hepatocytes
            results in a approximately 30% decrease in APC levels, with no
            significant contribution from PACE4. We conclude that prior
            convertase cleavage of protein C in hepatocytes is critical for its
            thrombin activation.
            Erratum:[J Biol Chem. 2017 Aug 18;292(33):13565. PMID: 28821605]
REFERENCE   4  (residues 1 to 913)
  AUTHORS   Heng S, Paule SG, Li Y, Rombauts LJ, Vollenhoven B, Salamonsen LA
            and Nie G.
  TITLE     Posttranslational removal of alpha-dystroglycan N terminus by PC5/6
            cleavage is important for uterine preparation for embryo
            implantation in women
  JOURNAL   FASEB J 29 (9), 4011-4022 (2015)
   PUBMED   26077903
  REMARK    GeneRIF: full-length alpha-DG in the human endometrial epithelium
            is a barrier for embryo attachment and that removal of alpha-DG-N
            by proprotein convertase 5/6 (PC6; a protease critical for
            implantation
REFERENCE   5  (residues 1 to 913)
  AUTHORS   Mercure C, Jutras I, Day R, Seidah NG and Reudelhuber TL.
  TITLE     Prohormone convertase PC5 is a candidate processing enzyme for
            prorenin in the human adrenal cortex
  JOURNAL   Hypertension 28 (5), 840-846 (1996)
   PUBMED   8901832
REFERENCE   6  (residues 1 to 913)
  AUTHORS   Nachtigal MW and Ingraham HA.
  TITLE     Bioactivation of Mullerian inhibiting substance during gonadal
            development by a kex2/subtilisin-like endoprotease
  JOURNAL   Proc Natl Acad Sci U S A 93 (15), 7711-7716 (1996)
   PUBMED   8755541
REFERENCE   7  (residues 1 to 913)
  AUTHORS   Miranda L, Wolf J, Pichuantes S, Duke R and Franzusoff A.
  TITLE     Isolation of the human PC6 gene encoding the putative host protease
            for HIV-1 gp160 processing in CD4+ T lymphocytes
  JOURNAL   Proc Natl Acad Sci U S A 93 (15), 7695-7700 (1996)
   PUBMED   8755538
REFERENCE   8  (residues 1 to 913)
  AUTHORS   Campan M, Yoshizumi M, Seidah NG, Lee ME, Bianchi C and Haber E.
  TITLE     Increased proteolytic processing of protein tyrosine phosphatase mu
            in confluent vascular endothelial cells: the role of PC5, a member
            of the subtilisin family
  JOURNAL   Biochemistry 35 (12), 3797-3802 (1996)
   PUBMED   8620001
REFERENCE   9  (residues 1 to 913)
  AUTHORS   Seidah NG, Benjannet S, Pareek S, Savaria D, Hamelin J, Goulet B,
            Laliberte J, Lazure C, Chretien M and Murphy RA.
  TITLE     Cellular processing of the nerve growth factor precursor by the
            mammalian pro-protein convertases
  JOURNAL   Biochem J 314 (Pt 3) (Pt 3), 951-960 (1996)
   PUBMED   8615794
REFERENCE   10 (residues 1 to 913)
  AUTHORS   Mbikay M, Seidah NG, Chretien M and Simpson EM.
  TITLE     Chromosomal assignment of the genes for proprotein convertases PC4,
            PC5, and PACE 4 in mouse and human
  JOURNAL   Genomics 26 (1), 123-129 (1995)
   PUBMED   7782070
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA992221.1, BC012064.1,
            HY155058.1, AK023096.1, CK023649.1, CN360310.1, AI379031.1 and
            BM719207.1.
            On or before Jun 25, 2010 this sequence version replaced
            XP_002346208.1, XP_002342982.1, XP_002347099.1, NP_006191.1.
            
            Summary: This gene encodes a member of the subtilisin-like
            proprotein convertase family, which includes proteases that process
            protein and peptide precursors trafficking through regulated or
            constitutive branches of the secretory pathway. The encoded protein
            undergoes an initial autocatalytic processing event in the ER to
            generate a heterodimer which exits the ER. It then sorts to the
            trans-Golgi network where a second autocatalytic event takes place
            and the catalytic activity is acquired. This encoded protein is
            widely expressed and one of the seven basic amino acid-specific
            members which cleave their substrates at single or paired basic
            residues. It mediates posttranslational endoproteolytic processing
            for several integrin alpha subunits and is thought to process
            prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1
            glycoprotein gp160. Alternative splicing results in multiple
            transcript variants, some of which encode distinct isoforms,
            including a protease packaged into dense core granules (PC5A) and a
            type 1 membrane bound protease (PC5B). [provided by RefSeq, May
            2014].
            
            Transcript Variant: This variant (2) lacks several 3' exons but
            contains an alternate 3' terminal exon, and it thus differs in the
            3' coding region and 3' UTR, compared to variant 1. The resulting
            isoform (PC5A, alternatively referred to as the short form) has a
            substantially shorter and distinct C-terminus, compared to isoform
            PC5B.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.31137.1, BC012064.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..913
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.13"
     Protein         1..913
                     /product="proprotein convertase subtilisin/kexin type 5
                     isoform PC6A preproprotein"
                     /EC_number="3.4.21.-"
                     /note="protease PC6; prohormone convertase 5;
                     subtilisin/kexin-like protease PC5; proprotein convertase
                     6; subtilase"
                     /calculated_mol_wt=98288
     sig_peptide     1..32
                     /note="/evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (Q92824.4)"
                     /calculated_mol_wt=3380
     Region          38..114
                     /region_name="S8_pro-domain"
                     /note="Peptidase S8 pro-domain; pfam16470"
                     /db_xref="CDD:435357"
     Site            114..115
                     /site_type="cleavage"
                     /note="Cleavage, by autolysis. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q92824.4)"
     Region          126..420
                     /region_name="Peptidases_S8_Protein_convertases_Kexins_Fur
                     in-lik"
                     /note="Peptidase S8 family domain in Protein convertases;
                     cd04059"
                     /db_xref="CDD:173789"
     Site            order(128,180,226)
                     /site_type="other"
                     /note="calcium binding site 1 [ion binding]"
                     /db_xref="CDD:173789"
     Site            order(171..172,209,212,254,272,282,313,324,386)
                     /site_type="active"
                     /db_xref="CDD:173789"
     Site            order(171,212,386)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:173789"
     Site            225
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92824.4)"
     Site            order(319,349)
                     /site_type="other"
                     /note="calcium binding site 2 [ion binding]"
                     /db_xref="CDD:173789"
     Site            order(327,329,332,334)
                     /site_type="other"
                     /note="calcium binding site 3 [ion binding]"
                     /db_xref="CDD:173789"
     Site            381
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92824.4)"
     Region          505..595
                     /region_name="P_proprotein"
                     /note="Proprotein convertase P-domain; pfam01483"
                     /db_xref="CDD:426283"
     Region          519..521
                     /region_name="Cell attachment site. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92824.4)"
     Region          630..680
                     /region_name="FU 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92824.4)"
     Region          635..744
                     /region_name="GF_recep_IV"
                     /note="Growth factor receptor domain IV; pfam14843"
                     /db_xref="CDD:434259"
     Site            665
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92824.4)"
     Region          734..776
                     /region_name="FU"
                     /note="Furin-like repeats; smart00261"
                     /db_xref="CDD:214589"
     Site            752
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92824.4)"
     Region          782..823
                     /region_name="FU"
                     /note="Furin-like repeats; smart00261"
                     /db_xref="CDD:214589"
     Site            802
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92824.4)"
     Region          833..>867
                     /region_name="FU"
                     /note="Furin-like repeats; smart00261"
                     /db_xref="CDD:214589"
     Site            852
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92824.4)"
     Region          873..910
                     /region_name="PLAC"
                     /note="PLAC (protease and lacunin) domain; pfam08686"
                     /db_xref="CDD:430154"
     CDS             1..913
                     /gene="PCSK5"
                     /gene_synonym="PC5; PC6; PC6A; SPC6"
                     /coded_by="NM_006200.6:510..3251"
                     /note="isoform PC6A preproprotein is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS6652.1"
                     /db_xref="GeneID:5125"
                     /db_xref="HGNC:HGNC:8747"
                     /db_xref="MIM:600488"
ORIGIN      
        1 mgwgsrcccp grldllcvla llggcllpvc rtrvytnhwa vkiaggfpea nriaskygfi
       61 nigqigalkd yyhfyhsrti krsvissrgt hsfismepkv ewiqqqvvkk rtkrdydfsr
      121 aqstyfndpk wpsmwymhcs dnthpcqsdm niegawkrgy tgknivvtil ddgierthpd
      181 lmqnydalas cdvngndldp mprydasnen khgtrcagev aaaannshct vgiafnakig
      241 gvrmldgdvt dmveaksvsf npqhvhiysa swgpdddgkt vdgpapltrq afengvrmgr
      301 rglgsvfvwa sgnggrskdh cscdgytnsi ytisisstae sgkkpwylee csstlattys
      361 sgesydkkii ttdlrqrctd nhtgtsasap maagiialal eanpfltwrd vqhvivrtsr
      421 aghlnandwk tnaagfkvsh lygfglmdae amvmeaekwt tvprqhvcve stdrqiktir
      481 pnsavrsiyk asgcsdnpnr hvnylehvvv ritithprrg dlaiyltsps gtrsqllanr
      541 lfdhsmegfk nwefmtihcw geraagdwvl evydtpsqlr nfktpgklke wslvlygtsv
      601 qpysptnefp kverfrysrv edptddygte dyagpcdpec sevgcdgpgp dhcndclhyy
      661 yklknntric vsscppghyh adkkrcrkca pncescfgsh gdqcmsckyg yflneetnsc
      721 vthcpdgsyq dtkknlcrkc sencktctef hnctecrdgl slqgsrcsvs cedgryfngq
      781 dcqpchrfca tcagagadgc inctegyfme dgrcvqscsi syyfdhssen gyksckkcdi
      841 scltcngpgf knctscpsgy lldlgmcqmg aickdatees waeggfcmlv kknnlcqrkv
      901 lqqlccktct fqg
//
LOCUS       NP_001333304             276 aa            linear   PRI 27-DEC-2022
DEFINITION  diphthine methyltransferase isoform g [Homo sapiens].
ACCESSION   NP_001333304 XP_005266183
VERSION     NP_001333304.1
DBSOURCE    REFSEQ: accession NM_001346375.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 276)
  AUTHORS   Wei H, Bera TK, Wayne AS, Xiang L, Colantonio S, Chertov O and
            Pastan I.
  TITLE     A modified form of diphthamide causes immunotoxin resistance in a
            lymphoma cell line with a deletion of the WDR85 gene
  JOURNAL   J Biol Chem 288 (17), 12305-12312 (2013)
   PUBMED   23486472
REFERENCE   2  (residues 1 to 276)
  AUTHORS   Zhang F, Baumer N, Rode M, Ji P, Zhang T, Berdel WE and
            Muller-Tidow C.
  TITLE     The inhibitor of growth protein 5 (ING5) depends on INCA1 as a
            co-factor for its antiproliferative effects
  JOURNAL   PLoS One 6 (7), e21505 (2011)
   PUBMED   21750715
REFERENCE   3  (residues 1 to 276)
  AUTHORS   Carette JE, Guimaraes CP, Varadarajan M, Park AS, Wuethrich I,
            Godarova A, Kotecki M, Cochran BH, Spooner E, Ploegh HL and
            Brummelkamp TR.
  TITLE     Haploid genetic screens in human cells identify host factors used
            by pathogens
  JOURNAL   Science 326 (5957), 1231-1235 (2009)
   PUBMED   19965467
REFERENCE   4  (residues 1 to 276)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL365502.57 and AA252248.1.
            On Oct 7, 2016 this sequence version replaced XP_005266183.1.
            
            Summary: Diphthamide is a post-translationally modified histidine
            residue present in elongation factor 2, and is the target of
            diphtheria toxin. This gene encodes a protein that contains a WD-40
            domain, and is thought to be involved in diphthamide biosynthesis.
            A similar protein in yeast functions as a methylesterase,
            converting methylated diphthine to diphthine, which can then
            undergo amidation to produce diphthamide. [provided by RefSeq, Oct
            2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.230588.1,
                                           SRR1803613.48932.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..276
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     Protein         1..276
                     /product="diphthine methyltransferase isoform g"
                     /EC_number="3.1.1.97"
                     /note="WD repeat-containing protein 85; diphthine
                     methyltransferase"
                     /calculated_mol_wt=31159
     Region          22..61
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <23..>138
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          66..103
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          110..150
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          155..192
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..276
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /coded_by="NM_001346375.2:917..1747"
                     /note="isoform g is encoded by transcript variant 7"
                     /db_xref="GeneID:92715"
                     /db_xref="HGNC:HGNC:25199"
                     /db_xref="MIM:613210"
ORIGIN      
        1 mvnetrprlq kvaswqahqf eawiaafnyw hpeivysggd dgllrgwdtr vpgkflftsk
       61 rhtmgvcsiq ssphrehila tgsydehill wdtrnmkqpl adtpvqggvw rikwhpfhhh
      121 lllaacmhsg fkilncqkam eerqeatvlt shtlpdslvy gadwswllfr slqrapswsf
      181 psnlgtktad lkgaselptp checredndg egharpqsgm kpltegmrkn gtwlqataat
      241 trdcgvnpee adsafsllat csfydhalhl wewegn
//
LOCUS       NP_001229417            1892 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger SWIM domain-containing protein 8 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001229417
VERSION     NP_001229417.1
DBSOURCE    REFSEQ: accession NM_001242488.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1892)
  AUTHORS   Molina-Pelayo C, Olguin P, Mlodzik M and Glavic A.
  TITLE     The conserved Pelado/ZSWIM8 protein regulates actin dynamics by
            promoting linear actin filament polymerization
  JOURNAL   Life Sci Alliance 5 (12), e202201484 (2022)
   PUBMED   35940847
  REMARK    GeneRIF: The conserved Pelado/ZSWIM8 protein regulates actin
            dynamics by promoting linear actin filament polymerization.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1892)
  AUTHORS   Okumura F, Oki N, Fujiki Y, Ikuta R, Osaki K, Hamada S, Nakatsukasa
            K, Hisamoto N, Hara T and Kamura T.
  TITLE     ZSWIM8 is a myogenic protein that partly prevents C2C12
            differentiation
  JOURNAL   Sci Rep 11 (1), 20880 (2021)
   PUBMED   34686700
  REMARK    GeneRIF: ZSWIM8 is a myogenic protein that partly prevents C2C12
            differentiation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1892)
  AUTHORS   Shi CY, Kingston ER, Kleaveland B, Lin DH, Stubna MW and Bartel DP.
  TITLE     The ZSWIM8 ubiquitin ligase mediates target-directed microRNA
            degradation
  JOURNAL   Science 370 (6523) (2020)
   PUBMED   33184237
  REMARK    GeneRIF: The ZSWIM8 ubiquitin ligase mediates target-directed
            microRNA degradation.
REFERENCE   4  (residues 1 to 1892)
  AUTHORS   Han J, LaVigne CA, Jones BT, Zhang H, Gillett F and Mendell JT.
  TITLE     A ubiquitin ligase mediates target-directed microRNA decay
            independently of tailing and trimming
  JOURNAL   Science 370 (6523) (2020)
   PUBMED   33184234
  REMARK    GeneRIF: A ubiquitin ligase mediates target-directed microRNA decay
            independently of tailing and trimming.
REFERENCE   5  (residues 1 to 1892)
  AUTHORS   Sogayar MC, Camargo AA, Bettoni F, Carraro DM, Pires LC, Parmigiani
            RB, Ferreira EN, de Sa Moreira E, do Rosario D de O Latorre M,
            Simpson AJ, Cruz LO, Degaki TL, Festa F, Massirer KB, Sogayar MC,
            Filho FC, Camargo LP, Cunha MA, De Souza SJ, Faria M Jr, Giuliatti
            S, Kopp L, de Oliveira PS, Paiva PB, Pereira AA, Pinheiro DG, Puga
            RD, S de Souza JE, Albuquerque DM, Andrade LE, Baia GS, Briones MR,
            Cavaleiro-Luna AM, Cerutti JM, Costa FF, Costanzi-Strauss E,
            Espreafico EM, Ferrasi AC, Ferro ES, Fortes MA, Furchi JR,
            Giannella-Neto D, Goldman GH, Goldman MH, Gruber A, Guimaraes GS,
            Hackel C, Henrique-Silva F, Kimura ET, Leoni SG, Macedo C, Malnic
            B, Manzini B CV, Marie SK, Martinez-Rossi NM, Menossi M, Miracca
            EC, Nagai MA, Nobrega FG, Nobrega MP, Oba-Shinjo SM, Oliveira MK,
            Orabona GM, Otsuka AY, Paco-Larson ML, Paixao BM, Pandolfi JR,
            Pardini MI, Passos Bueno MR, Passos GA, Pesquero JB, Pessoa JG,
            Rahal P, Rainho CA, Reis CP, Ricca TI, Rodrigues V, Rogatto SR,
            Romano CM, Romeiro JG, Rossi A, Sa RG, Sales MM, Sant'Anna SC,
            Santarosa PL, Segato F, Silva WA Jr, Silva ID, Silva NP,
            Soares-Costa A, Sonati MF, Strauss BE, Tajara EH, Valentini SR,
            Villanova FE, Ward LS and Zanette DL.
  CONSRTM   Ludwig-FAPESP Transcript Finishing Initiative
  TITLE     A transcript finishing initiative for closing gaps in the human
            transcriptome
  JOURNAL   Genome Res 14 (7), 1413-1423 (2004)
   PUBMED   15197164
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022400.9, AB020720.2, BC151206.1, BC111006.1 and BC040726.1.
            
            Transcript Variant: This variant (3) uses two alternate splice
            sites in the 3' coding region with the latter resulting in a
            frameshift, compared to variant 1. It encodes isoform 3, which has
            a longer and distinct C-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1892
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.2"
     Protein         1..1892
                     /product="zinc finger SWIM domain-containing protein 8
                     isoform 3"
                     /note="zinc finger SWIM domain-containing protein 8"
                     /calculated_mol_wt=201391
     Site            36
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (A7E2V4.1)"
     Region          45..65
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A7E2V4.1)"
     Site            48
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (A7E2V4.1)"
     Site            53
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UHH1; propagated from
                     UniProtKB/Swiss-Prot (A7E2V4.1)"
     Site            437
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (A7E2V4.1)"
     Region          514..727
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A7E2V4.1)"
     Site            567
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (A7E2V4.1)"
     Region          803..823
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A7E2V4.1)"
     Region          <1015..>1156
                     /region_name="Treacle"
                     /note="Treacher Collins syndrome protein Treacle;
                     pfam03546"
                     /db_xref="CDD:427362"
     Region          1016..1232
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A7E2V4.1)"
     Site            1139
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (A7E2V4.1)"
     Site            1153
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UHH1; propagated from
                     UniProtKB/Swiss-Prot (A7E2V4.1)"
     Site            1156
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UHH1; propagated from
                     UniProtKB/Swiss-Prot (A7E2V4.1)"
     Site            1160
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (A7E2V4.1)"
     Site            1267
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (A7E2V4.1)"
     Region          1442..1464
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A7E2V4.1)"
     Region          <1502..>1786
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     Region          1627..1648
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A7E2V4.1)"
     CDS             1..1892
                     /gene="ZSWIM8"
                     /gene_synonym="KIAA0913"
                     /coded_by="NM_001242488.2:274..5952"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:23053"
                     /db_xref="HGNC:HGNC:23528"
                     /db_xref="MIM:619213"
ORIGIN      
        1 melmfaewed gerfsfedsd rfeedslcsf iseaeslcqn wrgwrkqsag pnsptggggg
       61 ggsggtrmrd glviplvels akqvafhipf evvekvyppv peqlqlriaf wsfpeneedi
      121 rlysclangs adefqrgdql frmravkdpl qigfhlsatv vppqmvppkg aynvavmfdr
      181 crvtscsctc gagakwcthv valclfrihn asavclrapv seslsrlqrd qlqkfaqyli
      241 selpqqilpt aqrlldells sqstaintvc gapdptagps asdqstwyld estltdnikk
      301 tlhkfcgpsp vvfsdvnsmy lssteppaaa ewacllrplr grepegvwnl lsivremfkr
      361 rdsnaaplle iltdqcltye qitgwwysvr tsashssasg htgrsngqse vaahacasmc
      421 demvtlwrla vldpalspqr rrelctqlrq wqlkvienvk rgqhkktler lfpgfrpave
      481 acyfnweeay plpgvtysgt drklalcwar alpsrpgasr sggleesrdr prplptepav
      541 rpkepgtkrk glgegvpssq rgprrlsaeg gdkalhkmgp gggkakalgg agsgskgsag
      601 ggskrrlsse dsslepdlae mslddsslal gaeastfggf pespppcplh ggsrgpstfl
      661 peppdtyeed ggvyfsegpe pptasvgppg llpgdvctqd dlpstdesgn glpktkeaap
      721 avgeedddyq ayylnaqdga ggeeekaegg ageehdlfag lkpleqesrm evlfacaeal
      781 hahgysseas rltvelaqdl lanppdlkve pppakgkknk vstsrqtwva tntlskaafl
      841 ltvlserpeh hnlafrvgmf alelqrppas tkalevklay qesevaallk kiplgpsems
      901 tmrcraeelr egtlcdyrpv lplmlasfif dvlcapgsrp psrnwnsetp gdeelgfeaa
      961 vaalgmkttv seaehpllce gtrrekgdla lalmitykdd qaklkkildk lldresqthk
     1021 pqtlssfyss srpttasqrs pskhggpsap galqpltsgs agpaqpgsva gagpgptegf
     1081 teknvpessp hspceglpse aaltprpegk vpsrlalgsr ggyngrgwgs pgrpkkkhtg
     1141 masidssape ttsdssptls rrplrggwap tswgrgqdsd sisssssdsl gsssssgsrr
     1201 asasggarak tvevgrykgr rpeshaphvp nqpseaaahf yfelaktvli kaggnsstsi
     1261 fthpsssggh qgphrnlhlc afeiglyalg lhnfvspnwl srtysshvsw itgqameigs
     1321 aaltilvecw dghltppeva sladrasrar dsnmvraaae lalsclphah alnpneiqra
     1381 lvqckeqdnl mlekacmave eaakgggvyp evlfevahqw fwlyeqtagg sstaregats
     1441 csasgiragg eagrgmpegr ggpgtepvtv aaaavtaaat vvpvisvgss lypgpglghg
     1501 hspglhpyta lqphlpcspq ylthpahpah pmphmprpav fpvpssaypq gvhpaflgaq
     1561 ypysvtppsl aatavsfpvp smapitvhpy htepglplpt svalssvhpa stfpaiqgas
     1621 lpalttqpsp lvsggfpppe eethsqpvnp hslhhlhaay rvgmlaleml grrahndhpn
     1681 nfsrsppytd dvkwllglaa klgdrhgdaa aaesrscpqp pacpglpptg aalpagihav
     1741 hpppldspds cglrrlcecd pecpqrllpd ahghdavqrh ptepqaqqtd qgavaagltr
     1801 dghllplsls plgsytgtqa cgyggpshrg setwldrsss lsslvaqtds cswaiawgqd
     1861 vshprslglg etalsgrgrw vasgiylafi ni
//
LOCUS       NP_001129119             392 aa            linear   PRI 27-DEC-2022
DEFINITION  protein FAM53C isoform 1 [Homo sapiens].
ACCESSION   NP_001129119
VERSION     NP_001129119.1
DBSOURCE    REFSEQ: accession NM_001135647.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 392)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 392)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (residues 1 to 392)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   4  (residues 1 to 392)
  AUTHORS   Bandyopadhyay S, Chiang CY, Srivastava J, Gersten M, White S, Bell
            R, Kurschner C, Martin C, Smoot M, Sahasrabudhe S, Barber DL,
            Chanda SK and Ideker T.
  TITLE     A human MAP kinase interactome
  JOURNAL   Nat Methods 7 (10), 801-805 (2010)
   PUBMED   20936779
REFERENCE   5  (residues 1 to 392)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   6  (residues 1 to 392)
  AUTHORS   Lai F, Godley LA, Joslin J, Fernald AA, Liu J, Espinosa R 3rd, Zhao
            N, Pamintuan L, Till BG, Larson RA, Qian Z and Le Beau MM.
  TITLE     Transcript map and comparative analysis of the 1.5-Mb commonly
            deleted segment of human 5q31 in malignant myeloid diseases with a
            del(5q)
  JOURNAL   Genomics 71 (2), 235-245 (2001)
   PUBMED   11161817
REFERENCE   7  (residues 1 to 392)
  AUTHORS   Lai F, Godley LA, Fernald AA, Orelli BJ, Pamintuan L, Zhao N and Le
            Beau MM.
  TITLE     cDNA cloning and genomic structure of three genes localized to
            human chromosome band 5q31 encoding potential nuclear proteins
  JOURNAL   Genomics 70 (1), 123-130 (2000)
   PUBMED   11087669
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB035183.1, BC052993.1 and
            AC104116.3.
            
            Summary: The protein encoded by this gene belongs to the FAM53
            protein family. FAM53 protein family members bind to a
            transcriptional regulator that modulates cell proliferation.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 and 2 both encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.218979.1, BC052993.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..392
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     Protein         1..392
                     /product="protein FAM53C isoform 1"
                     /note="putative nuclear protein; protein FAM53C"
                     /calculated_mol_wt=42961
     Region          1..307
                     /region_name="FAM53"
                     /note="Family of FAM53; pfam15242"
                     /db_xref="CDD:434564"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (Q9NYF3.1)"
     Region          78..119
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYF3.1)"
     Site            122
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NYF3.1)"
     Region          141..167
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYF3.1)"
     Site            162
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NYF3.1)"
     Region          204..294
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYF3.1)"
     Site            232
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9NYF3.1)"
     Site            234
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NYF3.1)"
     Site            255
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NYF3.1)"
     Site            273
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NYF3.1)"
     Site            299
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NYF3.1)"
     Region          341..364
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYF3.1)"
     CDS             1..392
                     /gene="FAM53C"
                     /gene_synonym="C5orf6"
                     /coded_by="NM_001135647.2:449..1627"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS4204.1"
                     /db_xref="GeneID:51307"
                     /db_xref="HGNC:HGNC:1336"
                     /db_xref="MIM:609372"
ORIGIN      
        1 mitliteqlq kqtldelkct rfsislplpd hadisncgns fqlvsegasw rglphcscae
       61 fqdslnfsyh psglslhlrp psrgnspkeq pfsqvlrpep pdpeklpvpp appskrhcrs
      121 lsvpvdlsrw qpvwrpapsk lwtpikhrgs gggggpqvph qsppkrvssl rflqapsass
      181 qcapahrpys ppffslalaq dssrpcaasp qsgswesdae slspcppqrr fslspslgpq
      241 asrflpsars spasspelpw rprglrnlpr srsqpcdlda rktgvkrrhe edprrlrpsl
      301 dfdkmnqkpy sgglclqeta regssisppw fmacspppls ascsptggss qvlseseeee
      361 egavrwgrqa lskrtlcqrd fgdldlnlie en
//
LOCUS       NP_001336946             235 aa            linear   PRI 27-DEC-2022
DEFINITION  rab-like protein 2B isoform 5 [Homo sapiens].
ACCESSION   NP_001336946 XP_011528975
VERSION     NP_001336946.1
DBSOURCE    REFSEQ: accession NM_001350017.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 235)
  AUTHORS   Dateyama I, Sugihara Y, Chiba S, Ota R, Nakagawa R, Kobayashi T and
            Itoh H.
  TITLE     RABL2 positively controls localization of GPCRs in mammalian
            primary cilia
  JOURNAL   J Cell Sci 132 (2) (2019)
   PUBMED   30578315
  REMARK    GeneRIF: RABL2 controls localization of GPR161 independently of
            TULP3, which promotes entry of ciliary GPCRs.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 235)
  AUTHORS   Kanie T, Abbott KL, Mooney NA, Plowey ED, Demeter J and Jackson PK.
  TITLE     The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate
            Intraflagellar Transport at the Ciliary Base
  JOURNAL   Dev Cell 42 (1), 22-36 (2017)
   PUBMED   28625565
  REMARK    GeneRIF: CEP19 is recruited to the ciliary base by the centriolar
            CEP350/FOP complex and then specifically captures GTP-bound RABL2B,
            which is activated via its intrinsic nucleotide exchange.
REFERENCE   3  (residues 1 to 235)
  AUTHORS   Nishijima Y, Hagiya Y, Kubo T, Takei R, Katoh Y and Nakayama K.
  TITLE     RABL2 interacts with the intraflagellar transport-B complex and
            CEP19 and participates in ciliary assembly
  JOURNAL   Mol Biol Cell 28 (12), 1652-1666 (2017)
   PUBMED   28428259
REFERENCE   4  (residues 1 to 235)
  AUTHORS   Hosseini SH, Sadighi Gilani MA, Meybodi AM and Sabbaghian M.
  TITLE     The impact of RABL2B gene (rs144944885) on human male infertility
            in patients with oligoasthenoteratozoospermia and immotile short
            tail sperm defects
  JOURNAL   J Assist Reprod Genet 34 (4), 505-510 (2017)
   PUBMED   28138870
  REMARK    GeneRIF: According to the present study, 50776482 delC allele in
            the RABL2B gene could be a risk factor in Iranian infertile men
            with oligoasthenoteratozoospermia defect, but more genetic studies
            are required to understand the accurate role of this variant in
            pathogenesis of human male infertility.
REFERENCE   5  (residues 1 to 235)
  AUTHORS   Kramer M, Backhaus O, Rosenstiel P, Horn D, Klopocki E, Birkenmeier
            G, Schreiber S, Platzer M, Hampe J and Huse K.
  TITLE     Analysis of relative gene dosage and expression differences of the
            paralogs RABL2A and RABL2B by Pyrosequencing
  JOURNAL   Gene 455 (1-2), 1-7 (2010)
   PUBMED   20138207
  REMARK    GeneRIF: In human samples no deviations of the euploid genomic
            state could be detected indicating that 22q13 microdeletions
            involving RABL2B are rare.
REFERENCE   6  (residues 1 to 235)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   7  (residues 1 to 235)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   8  (residues 1 to 235)
  AUTHORS   Wong AC, Shkolny D, Dorman A, Willingham D, Roe BA and McDermid HE.
  TITLE     Two novel human RAB genes with near identical sequence each map to
            a telomere-associated region: the subtelomeric region of 22q13.3
            and the ancestral telomere band 2q13
  JOURNAL   Genomics 59 (3), 326-334 (1999)
   PUBMED   10444334
REFERENCE   9  (residues 1 to 235)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313442.1, DB443254.2,
            DA156379.1, AA312189.1, BC075856.1, BG677109.1 and BC024281.1.
            On Apr 1, 2017 this sequence version replaced XP_011528975.1.
            
            Summary: The RABL2B protein is a member of the RAB gene family
            which belongs to the RAS GTPase superfamily. RABL2B is located
            within a subtelomeric region of 22q13.3. Multiple alternatively
            spliced transcript variants encoding several different isoforms
            have been found for this gene. [provided by RefSeq, Aug 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.3739347.1,
                                           SRR14038195.802140.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..235
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     Protein         1..235
                     /product="rab-like protein 2B isoform 5"
                     /note="RAB-like protein 2B"
                     /calculated_mol_wt=26741
     Region          22..188
                     /region_name="RabL2"
                     /note="Rab GTPase-like family 2 (Rab-like2); cd04124"
                     /db_xref="CDD:133324"
     Site            22..23
                     /site_type="other"
                     /note="Rab subfamily motif 1 (RabSF1)"
                     /db_xref="CDD:133324"
     Site            28..35
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:133324"
     Site            order(30..36,46,52..53,79,133..134,136,160..162)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:133324"
     Site            order(36..46,51..52)
                     /site_type="other"
                     /note="Rab subfamily motif 2 (RabSF2)"
                     /db_xref="CDD:133324"
     Site            order(46,51..59)
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:133324"
     Site            order(51,55..62,69,71)
                     /site_type="other"
                     /note="putative GEF interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:133324"
     Site            53
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:133324"
     Site            order(54,56..58,73,75,82..83,86,90,92..95)
                     /site_type="active"
                     /note="putative effector interaction site [active]"
                     /db_xref="CDD:133324"
     Site            order(54..55,57,75..76,83,85,87..89)
                     /site_type="other"
                     /note="putative GDI interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:133324"
     Site            54..58
                     /site_type="other"
                     /note="Rab family motif 1 (RabF1)"
                     /db_xref="CDD:133324"
     Site            71..75
                     /site_type="other"
                     /note="Rab family motif 2 (RabF2)"
                     /db_xref="CDD:133324"
     Site            76..79
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:133324"
     Site            order(79,81..91)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:133324"
     Site            82..87
                     /site_type="other"
                     /note="Rab family motif 3 (RabF3)"
                     /db_xref="CDD:133324"
     Site            90..94
                     /site_type="other"
                     /note="Rab family motif 4 (RabF4)"
                     /db_xref="CDD:133324"
     Site            99..104
                     /site_type="other"
                     /note="Rab family motif 5 (RabF5)"
                     /db_xref="CDD:133324"
     Site            122..130
                     /site_type="other"
                     /note="Rab subfamily motif 3 (RabSF3)"
                     /db_xref="CDD:133324"
     Site            133..136
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:133324"
     Site            160..162
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:133324"
     Site            182..188
                     /site_type="other"
                     /note="Rab subfamily motif 4 (RabSF4)"
                     /db_xref="CDD:133324"
     CDS             1..235
                     /gene="RABL2B"
                     /coded_by="NM_001350017.2:442..1149"
                     /note="isoform 5 is encoded by transcript variant 22"
                     /db_xref="GeneID:11158"
                     /db_xref="HGNC:HGNC:9800"
                     /db_xref="MIM:605413"
ORIGIN      
        1 maedktkpse ldqgkydadd nvkiiclgds avgksklmer flmdgfqpqq lstyaltlyk
       61 htatvdgrti lvdfwdtagq erfqsmhasy yhkahacimv fdvqrkvtyr nlstwytelr
      121 efrpeipciv vankidadin vtqksfnfak kfslplyfvs aadgtnvvkv wltaelfnda
      181 irlavsykqn sqdfmdeifq elenfsleqe eedvpdqeqs ssietpseea asphs
//
LOCUS       NP_569074                270 aa            linear   PRI 27-DEC-2022
DEFINITION  E3 ubiquitin-protein ligase TRIM34 isoform 3 [Homo sapiens].
ACCESSION   NP_569074
VERSION     NP_569074.2
DBSOURCE    REFSEQ: accession NM_130390.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 270)
  AUTHORS   Wang X, Xiong J, Zhou D, Zhang S, Wang L, Tian Q, Li C, Liu J, Wu
            Y, Li J and Wang J.
  TITLE     TRIM34 modulates influenza virus-activated programmed cell death by
            targeting Z-DNA-binding protein 1 for K63-linked polyubiquitination
  JOURNAL   J Biol Chem 298 (3), 101611 (2022)
   PUBMED   35065966
  REMARK    GeneRIF: TRIM34 modulates influenza virus-activated programmed cell
            death by targeting Z-DNA-binding protein 1 for K63-linked
            polyubiquitination.
REFERENCE   2  (residues 1 to 270)
  AUTHORS   Ohainle M, Kim K, Komurlu Keceli S, Felton A, Campbell E, Luban J
            and Emerman M.
  TITLE     TRIM34 restricts HIV-1 and SIV capsids in a TRIM5alpha-dependent
            manner
  JOURNAL   PLoS Pathog 16 (4), e1008507 (2020)
   PUBMED   32282853
  REMARK    GeneRIF: TRIM34 restricts HIV-1 and SIV capsids in a
            TRIM5alpha-dependent manner.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 270)
  AUTHORS   Sun D, An X and Ji B.
  TITLE     TRIM34 facilitates the formation of multinucleated giant cells by
            enhancing cell fusion and phagocytosis in epithelial cells
  JOURNAL   Exp Cell Res 384 (1), 111594 (2019)
   PUBMED   31487507
  REMARK    GeneRIF: TRIM34 proteins contribute to the formation of MGCs.
REFERENCE   4  (residues 1 to 270)
  AUTHORS   Sun D, An X, Ji B, Cheng Y, Gao H and Tian M.
  TITLE     [Tripartite motif-containing protein 34 (TRIM34) colocalized with
            micronuclei chromosome and hampers its movement to equatorial plate
            during the metaphase stage of mitosis]
  JOURNAL   Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 32 (6), 755-759 (2016)
   PUBMED   27371841
  REMARK    GeneRIF: Data show there was no distinguished colocalization
            relationship between the complex of tripartite motif-containing
            protein 34 (TRIM34)-micronulei and mitochondria.
REFERENCE   5  (residues 1 to 270)
  AUTHORS   Uchil PD, Hinz A, Siegel S, Coenen-Stass A, Pertel T, Luban J and
            Mothes W.
  TITLE     TRIM protein-mediated regulation of inflammatory and innate immune
            signaling and its association with antiretroviral activity
  JOURNAL   J Virol 87 (1), 257-272 (2013)
   PUBMED   23077300
REFERENCE   6  (residues 1 to 270)
  AUTHORS   Li X, Gold B, O'hUigin C, Diaz-Griffero F, Song B, Si Z, Li Y, Yuan
            W, Stremlau M, Mische C, Javanbakht H, Scally M, Winkler C, Dean M
            and Sodroski J.
  TITLE     Unique features of TRIM5alpha among closely related human TRIM
            family members
  JOURNAL   Virology 360 (2), 419-433 (2007)
   PUBMED   17156811
REFERENCE   7  (residues 1 to 270)
  AUTHORS   Zhang F, Hatziioannou T, Perez-Caballero D, Derse D and Bieniasz
            PD.
  TITLE     Antiretroviral potential of human tripartite motif-5 and related
            proteins
  JOURNAL   Virology 353 (2), 396-409 (2006)
   PUBMED   16828831
REFERENCE   8  (residues 1 to 270)
  AUTHORS   Li X, Li Y, Stremlau M, Yuan W, Song B, Perron M and Sodroski J.
  TITLE     Functional replacement of the RING, B-box 2, and coiled-coil
            domains of tripartite motif 5alpha (TRIM5alpha) by heterologous
            TRIM domains
  JOURNAL   J Virol 80 (13), 6198-6206 (2006)
   PUBMED   16775307
REFERENCE   9  (residues 1 to 270)
  AUTHORS   Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L,
            Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci
            S, Pelicci PG and Ballabio A.
  TITLE     The tripartite motif family identifies cell compartments
  JOURNAL   EMBO J 20 (9), 2140-2151 (2001)
   PUBMED   11331580
REFERENCE   10 (residues 1 to 270)
  AUTHORS   Orimo A, Tominaga N, Yoshimura K, Yamauchi Y, Nomura M, Sato M,
            Nogi Y, Suzuki M, Suzuki H, Ikeda K, Inoue S and Muramatsu M.
  TITLE     Molecular cloning of ring finger protein 21
            (RNF21)/interferon-responsive finger protein (ifp1), which
            possesses two RING-B box-coiled coil domains in tandem
  JOURNAL   Genomics 69 (1), 143-149 (2000)
   PUBMED   11013086
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB039902.1 and DA847894.1.
            On Apr 13, 2007 this sequence version replaced NP_569074.1.
            
            Summary: The protein encoded by this gene is a member of the
            tripartite motif (TRIM) family. The TRIM motif includes three
            zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain,
            and a coiled-coil region. Expression of this gene is up-regulated
            by interferon. This gene is mapped to chromosome 11p15, where it
            resides within a TRIM gene cluster. Alternative splicing results in
            multiple transcript variants. A read-through transcript from the
            upstream TRIM6 gene has also been observed, which results in a
            fusion product from these neighboring family members. [provided by
            RefSeq, Oct 2010].
            
            Transcript Variant: This variant (3) lacks several 3' exons but
            includes a unique segment at its 3' end, compared to variant 1. The
            encoded isoform (3, also known as the short form) has a distinct
            and shorter C-terminus, compared to isoform 1. The 5' UTR is
            incomplete due to a lack of 5'-complete transcripts representing
            this variant and the presence of splicing ambiguity in the 5'
            region.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB039904.1, SRR7346977.1512619.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..270
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..270
                     /product="E3 ubiquitin-protein ligase TRIM34 isoform 3"
                     /EC_number="2.3.2.27"
                     /note="ring finger protein 21, interferon-responsive;
                     interferon-responsive finger protein 1; E3
                     ubiquitin-protein ligase TRIM34"
                     /calculated_mol_wt=31262
     Region          7..79
                     /region_name="RING-HC_TRIM5-like_C-IV"
                     /note="RING finger, HC subclass, found in tripartite
                     motif-containing proteins TRIM5, TRIM6, TRIM22, TRIM34 and
                     similar proteins; cd16591"
                     /db_xref="CDD:438253"
     Site            order(16..17,19..20,57..58,60)
                     /site_type="other"
                     /note="E2 binding site [polypeptide binding]"
                     /db_xref="CDD:438253"
     Region          95..134
                     /region_name="Bbox2_TRIM5-like"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing proteins, TRIM5, TRIM6, TRIM22, TRIM34,
                     TRIM38 and similar proteins; cd19761"
                     /db_xref="CDD:380819"
     CDS             1..270
                     /gene="TRIM34"
                     /gene_synonym="IFP1; RNF21"
                     /coded_by="NM_130390.2:78..890"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:53840"
                     /db_xref="HGNC:HGNC:10063"
                     /db_xref="MIM:605684"
ORIGIN      
        1 maskillnvq eevtcpicle llteplsldc ghslcracit vsnkeavtsm ggksscpvcg
       61 isysfehlqa nqhlaniver lkevklspdn gkkrdlcdhh geklllfcke drkvicwlce
      121 rsqehrghht vlteevfkec qeklqavlkr lkkeeeeaek leadireekt swkyqvqter
      181 qriqtefdql rsilnneeqr elqrleeeek ktldkfaeae delvqqkqlv relisdvecr
      241 sqwstmellq dmsgimkwcv wvarsgacel
//
LOCUS       NP_005953                228 aa            linear   PRI 27-DEC-2022
DEFINITION  max-interacting protein 1 isoform a [Homo sapiens].
ACCESSION   NP_005953
VERSION     NP_005953.4
DBSOURCE    REFSEQ: accession NM_005962.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 228)
  AUTHORS   Lei Y, Huang Y, Lin J, Sun S, Che K, Shen J, Liao J, Chen Y, Chen
            K, Lin Z and Lin X.
  TITLE     Mxi1 participates in the progression of lung cancer via the
            microRNA-300/KLF9/GADD34 Axis
  JOURNAL   Cell Death Dis 13 (5), 425 (2022)
   PUBMED   35501353
  REMARK    GeneRIF: Mxi1 participates in the progression of lung cancer via
            the microRNA-300/KLF9/GADD34 Axis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 228)
  AUTHORS   Huang Y, Yang X, Lu Y, Zhao Y, Meng R, Zhang S, Dong X, Xu S and Wu
            G.
  TITLE     UBE2O targets Mxi1 for ubiquitination and degradation to promote
            lung cancer progression and radioresistance
  JOURNAL   Cell Death Differ 28 (2), 671-684 (2021)
   PUBMED   32901121
  REMARK    GeneRIF: UBE2O targets Mxi1 for ubiquitination and degradation to
            promote lung cancer progression and radioresistance.
REFERENCE   3  (residues 1 to 228)
  AUTHORS   Hu Z, Wang F, Wu Z, Gu H, Dong N, Jiang X, Xu J, Wu Z, Wechsler DS
            and Zheng D.
  TITLE     FOXO3a-dependent up-regulation of Mxi1-0 promotes hypoxia-induced
            apoptosis in endothelial cells
  JOURNAL   Cell Signal 51, 233-242 (2018)
   PUBMED   30118760
  REMARK    GeneRIF: HIF-1alpha-induced FOXO3a promotes apoptosis of hypoxic
            endothelial cells by directly inducing Mxi1- 0, which leads to the
            activation of caspase-8 apoptotic pathway.
REFERENCE   4  (residues 1 to 228)
  AUTHORS   Huang Y, Hu K, Zhang S, Dong X, Yin Z, Meng R, Zhao Y, Dai X, Zhang
            T, Yang K, Liu L, Huang K, Shi S, Zhang Y, Chen J, Wu G and Xu S.
  TITLE     S6K1 phosphorylation-dependent degradation of Mxi1 by beta-Trcp
            ubiquitin ligase promotes Myc activation and radioresistance in
            lung cancer
  JOURNAL   Theranostics 8 (5), 1286-1300 (2018)
   PUBMED   29507620
  REMARK    GeneRIF: a phosphorylation mutant form of Mxi1 (Mxi1-S160A), which
            cannot be degraded by S6K1 and beta-Trcp, is much more stable and
            efficient in suppressing the transcriptional activity of Myc and
            radioresistance in lung cancer cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 228)
  AUTHORS   Wu W, Hu Z, Wang F, Gu H, Jiang X, Xu J, Zhan X, Zheng D and Zhang
            Z.
  TITLE     Mxi1-0 regulates the growth of human umbilical vein endothelial
            cells through extracellular signal-regulated kinase 1/2 (ERK1/2)
            and interleukin-8 (IL-8)-dependent pathways
  JOURNAL   PLoS One 12 (6), e0178831 (2017)
   PUBMED   28575053
  REMARK    GeneRIF: results suggest that Mxi1-0 regulates the growth of HUVECs
            via the IL-8 and ERK1/2 pathways, which apparently reciprocally
            activate each other
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 228)
  AUTHORS   Albarosa R, DiDonato S and Finocchiaro G.
  TITLE     Redefinition of the coding sequence of the MXI1 gene and
            identification of a polymorphic repeat in the 3' non-coding region
            that allows the detection of loss of heterozygosity of chromosome
            10q25 in glioblastomas
  JOURNAL   Hum Genet 95 (6), 709-711 (1995)
   PUBMED   7789959
REFERENCE   7  (residues 1 to 228)
  AUTHORS   Zervos,A.S., Gyuris,J. and Brent,R.
  TITLE     Mxi1, a protein that specifically interacts with Max to bind
            Myc-Max recognition sites
  JOURNAL   Cell 79 (2), following388 (1994)
   PUBMED   7954804
  REMARK    Correction to:[Cell. 1993 Jan 29;72(2):223-32. PMID: 8425219]
REFERENCE   8  (residues 1 to 228)
  AUTHORS   Wechsler DS, Hawkins AL, Li X, Jabs EW, Griffin CA and Dang CV.
  TITLE     Localization of the human Mxi1 transcription factor gene (MXI1) to
            chromosome 10q24-q25
  JOURNAL   Genomics 21 (3), 669-672 (1994)
   PUBMED   7959753
REFERENCE   9  (residues 1 to 228)
  AUTHORS   Edelhoff S, Ayer DE, Zervos AS, Steingrimsson E, Jenkins NA,
            Copeland NG, Eisenman RN, Brent R and Disteche CM.
  TITLE     Mapping of two genes encoding members of a distinct subfamily of
            MAX interacting proteins: MAD to human chromosome 2 and mouse
            chromosome 6, and MXI1 to human chromosome 10 and mouse chromosome
            19
  JOURNAL   Oncogene 9 (2), 665-668 (1994)
   PUBMED   8290278
REFERENCE   10 (residues 1 to 228)
  AUTHORS   Zervos AS, Gyuris J and Brent R.
  TITLE     Mxi1, a protein that specifically interacts with Max to bind
            Myc-Max recognition sites
  JOURNAL   Cell 72 (2), 223-232 (1993)
   PUBMED   8425219
  REMARK    Erratum:[Cell. 1994 Oct 21;79(2):following 388. PMID: 7954804]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL360182.15, CB960506.1,
            CF594363.1, AL538051.3, BX417051.2, BC016678.1, AA640393.1,
            AA854855.1, BM668806.1 and AW291670.1.
            On Jan 7, 2005 this sequence version replaced NP_005953.3.
            
            Summary: Expression of the c-myc gene, which produces an oncogenic
            transcription factor, is tightly regulated in normal cells but is
            frequently deregulated in human cancers. The protein encoded by
            this gene is a transcriptional repressor thought to negatively
            regulate MYC function, and is therefore a potential tumor
            suppressor. This protein inhibits the transcriptional activity of
            MYC by competing for MAX, another basic helix-loop-helix protein
            that binds to MYC and is required for its function. Defects in this
            gene are frequently found in patients with prostate tumors. Three
            alternatively spliced transcripts encoding different isoforms have
            been described. Additional alternatively spliced transcripts may
            exist but the products of these transcripts have not been verified
            experimentally. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1), also referred to as SRbeta,
            encodes the predominant isoform (a).
            
            CCDS Note: The coding region has been updated to include an
            alternative exon that is more supported by the available transcript
            and protein data. The update completes the helix-loop-helix
            dimerization domain, which was previously truncated.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.2769378.1,
                                           SRR14038196.973341.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..228
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.2"
     Protein         1..228
                     /product="max-interacting protein 1 isoform a"
                     /note="MAX dimerization protein 2; MAX-interacting protein
                     1; Max-related transcription factor; class C basic
                     helix-loop-helix protein 11"
                     /calculated_mol_wt=25931
     Region          29..76
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P50539.2)"
     Region          68..147
                     /region_name="bHLHzip_MXI1"
                     /note="basic Helix-Loop-Helix-zipper (bHLHzip) domain
                     found in Max-interacting protein 1 (MXI1) and similar
                     proteins; cd18930"
                     /db_xref="CDD:381500"
     Site            order(72..73,76..77,79..80,84,103..105)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381500"
     Site            order(83..84,86..91,93..94,106,109,113,115..117,119..120,
                     122..123,126,130,133..134,136..137,140..141,143..144)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381500"
     Site            order(83,86..87,89..90,93..94,106,109,113,115..117,
                     119..120,122..123,126,130,133..134,136..137,140..141,
                     143..144)
                     /site_type="other"
                     /note="putative tetramer interface [polypeptide binding]"
                     /db_xref="CDD:381500"
     Region          161..228
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P50539.2)"
     CDS             1..228
                     /gene="MXI1"
                     /gene_synonym="bHLHc11; MAD2; MXD2; MXI"
                     /coded_by="NM_005962.5:216..902"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7564.2"
                     /db_xref="GeneID:4601"
                     /db_xref="HGNC:HGNC:7534"
                     /db_xref="MIM:600020"
ORIGIN      
        1 mervkminvq rlleaaefle rrerecehgy assfpsmpsp rlqhskpprr lsraqkhssg
       61 ssntstanrs thneleknrr ahlrlclerl kvliplgpdc trhttlglln kakahikkle
      121 eaerksqhql enlereqrfl kwrleqlqgp qemerirmds igstissdrs dsereeievd
      181 vestefshge vdnisttsis diddhsslps igsdegyssa svklsfts
//
LOCUS       NP_001363010             414 aa            linear   PRI 27-DEC-2022
DEFINITION  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial
            isoform 1 [Homo sapiens].
ACCESSION   NP_001363010 XP_016860168
VERSION     NP_001363010.1
DBSOURCE    REFSEQ: accession NM_001376081.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 414)
  AUTHORS   Zhou JB, Wang Y, Zeng QY, Meng SX, Wang ED and Zhou XL.
  TITLE     Molecular basis for t6A modification in human mitochondria
  JOURNAL   Nucleic Acids Res 48 (6), 3181-3194 (2020)
   PUBMED   32047918
REFERENCE   2  (residues 1 to 414)
  AUTHORS   Lin H, Miyauchi K, Harada T, Okita R, Takeshita E, Komaki H,
            Fujioka K, Yagasaki H, Goto YI, Yanaka K, Nakagawa S, Sakaguchi Y
            and Suzuki T.
  TITLE     CO2-sensitive tRNA modification associated with human mitochondrial
            disease
  JOURNAL   Nat Commun 9 (1), 1875 (2018)
   PUBMED   29760464
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 414)
  AUTHORS   Liao M, Shi J, Huang L, Gao Y, Tan A, Wu C, Lu Z, Yang X, Zhang S,
            Hu Y, Qin X, Li J, Chen G, Xu J, Mo Z and Zhang H.
  TITLE     Genome-wide association study identifies variants in PMS1
            associated with serum ferritin in a Chinese population
  JOURNAL   PLoS One 9 (8), e105844 (2014)
   PUBMED   25162662
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 414)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 414)
  AUTHORS   Oberto J, Breuil N, Hecker A, Farina F, Brochier-Armanet C, Culetto
            E and Forterre P.
  TITLE     Qri7/OSGEPL, the mitochondrial version of the universal Kae1/YgjD
            protein, is essential for mitochondrial genome maintenance
  JOURNAL   Nucleic Acids Res 37 (16), 5343-5352 (2009)
   PUBMED   19578062
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC013468.12.
            On Nov 8, 2019 this sequence version replaced XP_016860168.1.
            
            Transcript Variant: This variant (8), as well as variants 1, 2,
            4-7, 9, and 10, encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2554303.1,
                                           SRR18074969.753552.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..414
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     Protein         1..414
                     /product="tRNA N6-adenosine threonylcarbamoyltransferase,
                     mitochondrial isoform 1"
                     /EC_number="2.3.1.234"
                     /note="putative sialoglycoprotease type 2; OSGEP-like
                     protein 1; probable O-sialoglycoprotein endopeptidase 2;
                     tRNA threonylcarbamoyladenosine biosynthesis protein
                     OSGEPL1; probable tRNA threonylcarbamoyladenosine
                     biosynthesis protein OSGEPL1; O-sialoglycoprotein
                     endopeptidase-like protein 1; tRNA N6-adenosine
                     threonylcarbamoyltransferase, mitochondrial; t(6)A37
                     threonylcarbamoyladenosine biosynthesis protein OSGEPL1;
                     probable tRNA N6-adenosine threonylcarbamoyltransferase,
                     mitochondrial; t(6)A synthase;
                     N6-L-threonylcarbamoyladenine synthase"
                     /calculated_mol_wt=41635
     transit_peptide 1..29
                     /note="Mitochondrion.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03179; propagated from
                     UniProtKB/Swiss-Prot (Q9H4B0.2)"
                     /calculated_mol_wt=3506
     mat_peptide     30..414
                     /product="tRNA N6-adenosine threonylcarbamoyltransferase,
                     mitochondrial. /id=PRO_0000307778"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H4B0.2)"
                     /calculated_mol_wt=41635
     Region          38..377
                     /region_name="TsaD"
                     /note="tRNA A37 threonylcarbamoyltransferase TsaD
                     [Translation, ribosomal structure and biogenesis];
                     COG0533"
                     /db_xref="CDD:223607"
     Site            74
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:32047918; propagated from
                     UniProtKB/Swiss-Prot (Q9H4B0.2)"
     Site            140
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:32047918; propagated from
                     UniProtKB/Swiss-Prot (Q9H4B0.2)"
     Site            203
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:32047918; propagated from
                     UniProtKB/Swiss-Prot (Q9H4B0.2)"
     Site            230
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:32047918; propagated from
                     UniProtKB/Swiss-Prot (Q9H4B0.2)"
     Site            240
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:32047918; propagated from
                     UniProtKB/Swiss-Prot (Q9H4B0.2)"
     Site            299
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:32047918; propagated from
                     UniProtKB/Swiss-Prot (Q9H4B0.2)"
     CDS             1..414
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /coded_by="NM_001376081.1:282..1526"
                     /note="isoform 1 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS46472.1"
                     /db_xref="GeneID:64172"
                     /db_xref="HGNC:HGNC:23075"
                     /db_xref="MIM:619634"
ORIGIN      
        1 mliltktagv ffkpskrkvy eflrsfnfhp gtlflhkivl gietscddta aavvdetgnv
       61 lgeaihsqte vhlktggivp paaqqlhren iqrivqeals asgvspsdls aiattikpgl
      121 alslgvglsf slqlvgqlkk pfipihhmea haltirltnk vefpflvlli sgghcllalv
      181 qgvsdflllg ksldiapgdm ldkvarrlsl ikhpecstms ggkaiehlak qgnrfhfdik
      241 pplhhakncd fsftglqhvt dkiimkkeke egiekgqils saadiaatvq htmachlvkr
      301 thrailfckq rdllpqnnav lvasggvasn fyirraleil tnatqctllc ppprlctdng
      361 imiawngier lraglgilhd iegiryepkc plgvdiskev geasikvpql kmei
//
LOCUS       NP_001234930             266 aa            linear   PRI 27-DEC-2022
DEFINITION  protein SET isoform 4 [Homo sapiens].
ACCESSION   NP_001234930
VERSION     NP_001234930.1
DBSOURCE    REFSEQ: accession NM_001248001.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 266)
  AUTHORS   Wu Y, Duan Y, Li X, Zhao R, Lan B, Zhang X, Wang X, Chen H, Feng S,
            Liu Z, Cheng Y, Xi L, Wang Y, Xue F and Xuan C.
  TITLE     CBX8 Together with SET Facilitates Ovarian Carcinoma Growth and
            Metastasis by Suppressing the Transcription of SUSD2
  JOURNAL   Mol Cancer Res 20 (11), 1611-1622 (2022)
   PUBMED   35894945
  REMARK    GeneRIF: CBX8 Together with SET Facilitates Ovarian Carcinoma
            Growth and Metastasis by Suppressing the Transcription of SUSD2.
REFERENCE   2  (residues 1 to 266)
  AUTHORS   Feng H, Zhou BR, Schwieters CD and Bai Y.
  TITLE     Structural Mechanism of TAF-Ibeta Chaperone Function on Linker
            Histone H1.10
  JOURNAL   J Mol Biol 434 (19), 167755 (2022)
   PUBMED   35870650
  REMARK    GeneRIF: Structural Mechanism of TAF-Ibeta Chaperone Function on
            Linker Histone H1.10.
REFERENCE   3  (residues 1 to 266)
  AUTHORS   Han D, Wang L, Long L, Su P, Luo D, Zhang H, Li Z, Chen B, Zhao W,
            Zhang N, Wang X, Liang Y, Li Y, Hu G and Yang Q.
  TITLE     The E3 Ligase TRIM4 Facilitates SET Ubiquitin-Mediated Degradation
            to Enhance ER-alpha Action in Breast Cancer
  JOURNAL   Adv Sci (Weinh) 9 (25), e2201701 (2022)
   PUBMED   35843886
  REMARK    GeneRIF: The E3 Ligase TRIM4 Facilitates SET Ubiquitin-Mediated
            Degradation to Enhance ER-alpha Action in Breast Cancer.
REFERENCE   4  (residues 1 to 266)
  AUTHORS   Wang J, Zhan QR, Lu XX, Zhang LJ, Wang XX and Zhang HY.
  TITLE     The characteristics and prognostic significance of the
            SET-CAN/NUP214 fusion gene in hematological malignancies: A
            systematic review
  JOURNAL   Medicine (Baltimore) 101 (30), e29294 (2022)
   PUBMED   35905214
  REMARK    GeneRIF: The characteristics and prognostic significance of the
            SET-CAN/NUP214 fusion gene in hematological malignancies: A
            systematic review.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 266)
  AUTHORS   Gadallah M, Asaad NY, Shabaan M, Elkholy SS, Samara MY and Taie D.
  TITLE     Role of SET oncoprotein in hepatocellular carcinoma: An
            immunohistochemical study
  JOURNAL   J Immunoassay Immunochem 43 (4), 420-434 (2022)
   PUBMED   35156535
  REMARK    GeneRIF: Role of SET oncoprotein in hepatocellular carcinoma: An
            immunohistochemical study.
REFERENCE   6  (residues 1 to 266)
  AUTHORS   Nagata K, Kawase H, Handa H, Yano K, Yamasaki M, Ishimi Y, Okuda A,
            Kikuchi A and Matsumoto K.
  TITLE     Replication factor encoded by a putative oncogene, set, associated
            with myeloid leukemogenesis
  JOURNAL   Proc Natl Acad Sci U S A 92 (10), 4279-4283 (1995)
   PUBMED   7753797
REFERENCE   7  (residues 1 to 266)
  AUTHORS   Adachi Y, Pavlakis GN and Copeland TD.
  TITLE     Identification of in vivo phosphorylation sites of SET, a nuclear
            phosphoprotein encoded by the translocation breakpoint in acute
            undifferentiated leukemia
  JOURNAL   FEBS Lett 340 (3), 231-235 (1994)
   PUBMED   8131851
REFERENCE   8  (residues 1 to 266)
  AUTHORS   Vaesen M, Barnikol-Watanabe S, Gotz H, Awni LA, Cole T, Zimmermann
            B, Kratzin HD and Hilschmann N.
  TITLE     Purification and characterization of two putative HLA class II
            associated proteins: PHAPI and PHAPII
  JOURNAL   Biol Chem Hoppe Seyler 375 (2), 113-126 (1994)
   PUBMED   8192856
REFERENCE   9  (residues 1 to 266)
  AUTHORS   Adachi Y, Pavlakis GN and Copeland TD.
  TITLE     Identification and characterization of SET, a nuclear
            phosphoprotein encoded by the translocation break point in acute
            undifferentiated leukemia
  JOURNAL   J Biol Chem 269 (3), 2258-2262 (1994)
   PUBMED   8294483
REFERENCE   10 (residues 1 to 266)
  AUTHORS   von Lindern M, van Baal S, Wiegant J, Raap A, Hagemeijer A and
            Grosveld G.
  TITLE     Can, a putative oncogene associated with myeloid leukemogenesis,
            may be activated by fusion of its 3' half to different genes:
            characterization of the set gene
  JOURNAL   Mol Cell Biol 12 (8), 3346-3355 (1992)
   PUBMED   1630450
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356481.16 and AL359678.15.
            
            Summary: The protein encoded by this gene inhibits acetylation of
            nucleosomes, especially histone H4, by histone acetylases (HAT).
            This inhibition is most likely accomplished by masking histone
            lysines from being acetylated, and the consequence is to silence
            HAT-dependent transcription. The encoded protein is part of a
            complex localized to the endoplasmic reticulum but is found in the
            nucleus and inhibits apoptosis following attack by cytotoxic T
            lymphocytes. This protein can also enhance DNA replication of the
            adenovirus genome. Several transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Oct
            2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.204293.1,
                                           SRR14038193.4143429.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..266
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     Protein         1..266
                     /product="protein SET isoform 4"
                     /note="SET translocation (myeloid leukemia-associated);
                     protein phosphatase type 2A inhibitor; Template-Activating
                     Factor-I, chromatin remodelling factor; inhibitor of
                     granzyme A-activated DNase; HLA-DR-associated protein II;
                     inhibitor-2 of protein phosphatase-2A; phosphatase 2A
                     inhibitor I2PP2A; SET nuclear oncogene"
                     /calculated_mol_wt=30993
     Region          21..210
                     /region_name="NAP"
                     /note="Nucleosome assembly protein (NAP); pfam00956"
                     /db_xref="CDD:425962"
     CDS             1..266
                     /gene="SET"
                     /gene_synonym="2PP2A; I2PP2A; IGAAD; IPP2A2; MRD58;
                     PHAPII; TAF-I; TAF-IBETA"
                     /coded_by="NM_001248001.2:14..814"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS59150.1"
                     /db_xref="GeneID:6418"
                     /db_xref="HGNC:HGNC:10760"
                     /db_xref="MIM:600960"
ORIGIN      
        1 mmprshqppp pphekeqqea iehidevqne idrlneqase eilkveqkyn klrqpffqkr
       61 seliakipnf wvttfvnhpq vsallgeede ealhyltrve vtefediksg yridfyfden
      121 pyfenkvlsk efhlnesgdp ssksteikwk sgkdltkrss qtqnkasrkr qheepesfft
      181 wftdhsdaga delgevikdd iwpnplqyyl vpdmddeege geedddddee eegledidee
      241 gdedegeede dddegeegee degedd
//
LOCUS       NP_001363289             810 aa            linear   PRI 28-DEC-2022
DEFINITION  zinc finger CCCH domain-containing protein 11A isoform 1 [Homo
            sapiens].
ACCESSION   NP_001363289
VERSION     NP_001363289.1
DBSOURCE    REFSEQ: accession NM_001376360.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 810)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 810)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   3  (residues 1 to 810)
  AUTHORS   Younis S, Kamel W, Falkeborn T, Wang H, Yu D, Daniels R, Essand M,
            Hinkula J, Akusjarvi G and Andersson L.
  TITLE     Multiple nuclear-replicating viruses require the stress-induced
            protein ZC3H11A for efficient growth
  JOURNAL   Proc Natl Acad Sci U S A 115 (16), E3808-E3816 (2018)
   PUBMED   29610341
  REMARK    GeneRIF: Knockout of ZC3H11A in HeLa cells demonstrated that
            several nuclear-replicating viruses are dependent on ZC3H11A for
            efficient growth whereas cytoplasmic replicating viruses are not.
            ZC3H11A binds to short purine-rich ribonucleotide stretches in
            cellular and adenoviral transcripts. ZC3H11A is important for
            maintaining nuclear export of mRNAs during stress. Several
            nuclear-replicating viruses take advantage of this.
REFERENCE   4  (residues 1 to 810)
  AUTHORS   Daakour S, Hajingabo LJ, Kerselidou D, Devresse A, Kettmann R,
            Simonis N, Dequiedt F and Twizere JC.
  TITLE     Systematic interactome mapping of acute lymphoblastic leukemia
            cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and
            FBWX7 common interactor
  JOURNAL   BMC Cancer 16, 335 (2016)
   PUBMED   27229929
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 810)
  AUTHORS   Li X, Wang W, Wang J, Malovannaya A, Xi Y, Li W, Guerra R, Hawke
            DH, Qin J and Chen J.
  TITLE     Proteomic analyses reveal distinct chromatin-associated and soluble
            transcription factor complexes
  JOURNAL   Mol Syst Biol 11 (1), 775 (2015)
   PUBMED   25609649
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 810)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (residues 1 to 810)
  AUTHORS   Venkatesan K, Rual JF, Vazquez A, Stelzl U, Lemmens I,
            Hirozane-Kishikawa T, Hao T, Zenkner M, Xin X, Goh KI, Yildirim MA,
            Simonis N, Heinzmann K, Gebreab F, Sahalie JM, Cevik S, Simon C, de
            Smet AS, Dann E, Smolyar A, Vinayagam A, Yu H, Szeto D, Borick H,
            Dricot A, Klitgord N, Murray RR, Lin C, Lalowski M, Timm J, Rau K,
            Boone C, Braun P, Cusick ME, Roth FP, Hill DE, Tavernier J, Wanker
            EE, Barabasi AL and Vidal M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
REFERENCE   8  (residues 1 to 810)
  AUTHORS   Beausoleil SA, Villen J, Gerber SA, Rush J and Gygi SP.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
REFERENCE   9  (residues 1 to 810)
  AUTHORS   Nousiainen M, Sillje HH, Sauer G, Nigg EA and Korner R.
  TITLE     Phosphoproteome analysis of the human mitotic spindle
  JOURNAL   Proc Natl Acad Sci U S A 103 (14), 5391-5396 (2006)
   PUBMED   16565220
REFERENCE   10 (residues 1 to 810)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC114402.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.65586.1,
                                           SRR1803613.133734.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..810
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     Protein         1..810
                     /product="zinc finger CCCH domain-containing protein 11A
                     isoform 1"
                     /note="zinc finger CCCH-type domain containing 11A; zinc
                     finger CCCH domain-containing protein 11A"
                     /calculated_mol_wt=89000
     Region          1..110
                     /region_name="zf-CCCH_3"
                     /note="Zinc-finger containing family; pfam15663"
                     /db_xref="CDD:434838"
     Site            108
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75152.3)"
     Site            132
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O75152.3)"
     Region          139..194
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75152.3)"
     Site            149
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75152.3)"
     Site            171
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75152.3)"
     Region          223..258
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75152.3)"
     Region          285..351
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75152.3)"
     Site            290
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O75152.3)"
     Site            321
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75152.3)"
     Region          367..432
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75152.3)"
     Site            370
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75152.3)"
     Region          482..549
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75152.3)"
     Region          715..768
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75152.3)"
     CDS             1..810
                     /gene="ZC3H11A"
                     /gene_synonym="ZC3HDC11A"
                     /coded_by="NM_001376360.1:1741..4173"
                     /note="isoform 1 is encoded by transcript variant 36"
                     /db_xref="CCDS:CCDS30978.1"
                     /db_xref="GeneID:9877"
                     /db_xref="HGNC:HGNC:29093"
                     /db_xref="MIM:613513"
ORIGIN      
        1 mpnqgedcyf ffystctkgd scpfrhceaa ignetvctlw qegrcfrqvc rfrhmeidkk
       61 rseipcywen qptgcqklnc afhhnrgryv dglflppskt vlptvpespe eevkasqlsv
      121 qqnklsvqsn pspqlrsvmk vessenvpsp thppvvinaa dddeddddqf seegdetktp
      181 tlqptpevhn glrvtsvrkp avnikqgecl nfgiktleei kskkmkeksk kqgegssgvs
      241 slllhpepvp gpekenvrtv vrtvtlstkq geeplvrlsl terlgkrkfs aggdsdpplk
      301 rslaqrlgkk veapetnidk tpkkaqvsks lkerlgmsad pdnedatdkv nkvgeihvkt
      361 leeilleras qkrgelqtkl ktegpsktdd stsgarssst iriktfsevl aekkhrqqea
      421 erqkskkdtt ciklkidsei kktvvlppiv asrgqseepa gktksmqevh iktleeikle
      481 kalrvqqsse sstsspsqhe atpgarrllr itkrtgmkee knlqegnevd sqssirteak
      541 easgettgvd itkiqvkrce tmrekhmqkq qereksvltp lrgdvascnt qvaekpvlta
      601 vpgitrhltk rlptkssqkv evetsgigds llnvkcaaqt lekrgkakpk vnvkpsvvkv
      661 vsspklapkr kavemhaavi aavkplssss vlqeppakka avavvplvse dksvtvpeae
      721 nprdslvlpp tqsssdsspp evsgpsssqm smktrrlssa stgkpplsve ddfekliwei
      781 sggkleaeid ldpgkdeddl llelsemids
//
LOCUS       NP_003503                130 aa            linear   PRI 28-DEC-2022
DEFINITION  histone H2A type 1-C [Homo sapiens].
ACCESSION   NP_003503
VERSION     NP_003503.1
DBSOURCE    REFSEQ: accession NM_003512.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 130)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 130)
  AUTHORS   Singh R, Mortazavi A, Telu KH, Nagarajan P, Lucas DM, Thomas-Ahner
            JM, Clinton SK, Byrd JC, Freitas MA and Parthun MR.
  TITLE     Increasing the complexity of chromatin: functionally distinct roles
            for replication-dependent histone H2A isoforms in cell
            proliferation and carcinogenesis
  JOURNAL   Nucleic Acids Res 41 (20), 9284-9295 (2013)
   PUBMED   23956221
REFERENCE   3  (residues 1 to 130)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   4  (residues 1 to 130)
  AUTHORS   Bergink S, Salomons FA, Hoogstraten D, Groothuis TA, de Waard H, Wu
            J, Yuan L, Citterio E, Houtsmuller AB, Neefjes J, Hoeijmakers JH,
            Vermeulen W and Dantuma NP.
  TITLE     DNA damage triggers nucleotide excision repair-dependent
            monoubiquitylation of histone H2A
  JOURNAL   Genes Dev 20 (10), 1343-1352 (2006)
   PUBMED   16702407
REFERENCE   5  (residues 1 to 130)
  AUTHORS   Boyne MT 2nd, Pesavento JJ, Mizzen CA and Kelleher NL.
  TITLE     Precise characterization of human histones in the H2A gene family
            by top down mass spectrometry
  JOURNAL   J Proteome Res 5 (2), 248-253 (2006)
   PUBMED   16457589
REFERENCE   6  (residues 1 to 130)
  AUTHORS   Marzluff WF, Gongidi P, Woods KR, Jin J and Maltais LJ.
  TITLE     The human and mouse replication-dependent histone genes
  JOURNAL   Genomics 80 (5), 487-498 (2002)
   PUBMED   12408966
REFERENCE   7  (residues 1 to 130)
  AUTHORS   El Kharroubi A, Piras G, Zensen R and Martin MA.
  TITLE     Transcriptional activation of the integrated chromatin-associated
            human immunodeficiency virus type 1 promoter
  JOURNAL   Mol Cell Biol 18 (5), 2535-2544 (1998)
   PUBMED   9566873
REFERENCE   8  (residues 1 to 130)
  AUTHORS   Albig W and Doenecke D.
  TITLE     The human histone gene cluster at the D6S105 locus
  JOURNAL   Hum Genet 101 (3), 284-294 (1997)
   PUBMED   9439656
REFERENCE   9  (residues 1 to 130)
  AUTHORS   Ruddy DA, Kronmal GS, Lee VK, Mintier GA, Quintana L, Domingo R Jr,
            Meyer NC, Irrinki A, McClelland EE, Fullan A, Mapa FA, Moore T,
            Thomas W, Loeb DB, Harmon C, Tsuchihashi Z, Wolff RK, Schatzman RC
            and Feder JN.
  TITLE     A 1.1-Mb transcript map of the hereditary hemochromatosis locus
  JOURNAL   Genome Res 7 (5), 441-456 (1997)
   PUBMED   9149941
REFERENCE   10 (residues 1 to 130)
  AUTHORS   Albig W, Kioschis P, Poustka A, Meergans K and Doenecke D.
  TITLE     Human histone gene organization: nonregular arrangement within a
            large cluster
  JOURNAL   Genomics 40 (2), 314-322 (1997)
   PUBMED   9119399
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U91328.1.
            
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. Two molecules of each of the four core histones (H2A,
            H2B, H3, and H4) form an octamer, around which approximately 146 bp
            of DNA is wrapped in repeating units, called nucleosomes. The
            linker histone, H1, interacts with linker DNA between nucleosomes
            and functions in the compaction of chromatin into higher order
            structures. This gene is intronless and encodes a
            replication-dependent histone that is a member of the histone H2A
            family. Transcripts from this gene lack polyA tails but instead
            contain a palindromic termination element. This gene is found in
            the large histone gene cluster on chromosome 6. [provided by
            RefSeq, Aug 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: DA458476.1, BP330501.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match            :: ENST00000377791.4/
                                             ENSP00000367022.2
            RefSeq Select criteria        :: based on single protein-coding
                                             transcript
            replication-dependent histone :: PMID: 12408966
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..130
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.2"
     Protein         1..130
                     /product="histone H2A type 1-C"
                     /note="histone H2AC; histone cluster 1, H2ac; H2A histone
                     family, member L; histone 1, H2ac; histone H2A/l; histone
                     cluster 1 H2A family member c"
                     /calculated_mol_wt=13974
     Region          1..130
                     /region_name="PTZ00017"
                     /note="histone H2A; Provisional"
                     /db_xref="CDD:185399"
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q93077.3)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:15823041,
                     ECO:0000269|PubMed:16457589; propagated from
                     UniProtKB/Swiss-Prot (Q93077.3)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by RPS6KA5.
                     /evidence=ECO:0000269|PubMed:15010469; propagated from
                     UniProtKB/Swiss-Prot (Q93077.3)"
     Site            4
                     /site_type="methylation"
                     /note="Symmetric dimethylarginine, by PRMT5, alternate.
                     /evidence=ECO:0000250|UniProtKB:C0HKE2; propagated from
                     UniProtKB/Swiss-Prot (Q93077.3)"
     Site            6
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:C0HKE2; propagated from
                     UniProtKB/Swiss-Prot (Q93077.3)"
     Site            105
                     /site_type="methylation"
                     /note="N5-methylglutamine.
                     /evidence=ECO:0000269|PubMed:24352239; propagated from
                     UniProtKB/Swiss-Prot (Q93077.3)"
     Site            121
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by DCAF1.
                     /evidence=ECO:0000269|PubMed:15078818,
                     ECO:0000269|PubMed:24140421; propagated from
                     UniProtKB/Swiss-Prot (Q93077.3)"
     CDS             1..130
                     /gene="H2AC6"
                     /gene_synonym="dJ221C16.4; H2A/l; H2AFL; HIST1H2AC"
                     /coded_by="NM_003512.4:62..454"
                     /db_xref="CCDS:CCDS4585.1"
                     /db_xref="GeneID:8334"
                     /db_xref="HGNC:HGNC:4733"
                     /db_xref="MIM:602794"
ORIGIN      
        1 msgrgkqggk arakaksrss raglqfpvgr vhrllrkgny aervgagapv ylaavleylt
       61 aeilelagna ardnkktrii prhlqlairn deelnkllgr vtiaqggvlp niqavllpkk
      121 teshhkakgk
//
LOCUS       NP_001190994             290 aa            linear   PRI 28-DEC-2022
DEFINITION  ankyrin repeat and sterile alpha motif domain-containing protein 1B
            isoform d [Homo sapiens].
ACCESSION   NP_001190994
VERSION     NP_001190994.1
DBSOURCE    REFSEQ: accession NM_001204065.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 290)
  AUTHORS   Yan J and Xu H.
  TITLE     Regulation of transforming growth factor-beta1 by
            circANKS1B/miR-515-5p affects the metastatic potential and
            cisplatin resistance in oral squamous cell carcinoma
  JOURNAL   Bioengineered 12 (2), 12420-12430 (2021)
   PUBMED   34781814
  REMARK    GeneRIF: Regulation of transforming growth factor-beta1 by
            circANKS1B/miR-515-5p affects the metastatic potential and
            cisplatin resistance in oral squamous cell carcinoma.
REFERENCE   2  (residues 1 to 290)
  AUTHORS   Tao LJ, Pan XY, Wang JW, Zhang L, Tao LS and Liang CZ.
  TITLE     Circular RNA circANKS1B acts as a sponge for miR-152-3p and
            promotes prostate cancer progression by upregulating TGF-alpha
            expression
  JOURNAL   Prostate 81 (5), 271-278 (2021)
   PUBMED   33556191
  REMARK    GeneRIF: Circular RNA circANKS1B acts as a sponge for miR-152-3p
            and promotes prostate cancer progression by upregulating TGF-alpha
            expression.
REFERENCE   3  (residues 1 to 290)
  AUTHORS   Carbonell AU, Cho CH, Tindi JO, Counts PA, Bates JC,
            Erdjument-Bromage H, Cvejic S, Iaboni A, Kvint I, Rosensaft J,
            Banne E, Anagnostou E, Neubert TA, Scherer SW, Molholm S and Jordan
            BA.
  TITLE     Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a
            neurodevelopmental syndrome
  JOURNAL   Nat Commun 10 (1), 3529 (2019)
   PUBMED   31388001
  REMARK    GeneRIF: Study describe monogenic copy-number variations in ANKS1B
            in individuals that display a previously undefined spectrum of
            neurodevelopmental phenotypes that authors term ANKS1B
            haploinsufficiency syndrome.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 290)
  AUTHORS   Zeng K, He B, Yang BB, Xu T, Chen X, Xu M, Liu X, Sun H, Pan Y and
            Wang S.
  TITLE     The pro-metastasis effect of circANKS1B in breast cancer
  JOURNAL   Mol Cancer 17 (1), 160 (2018)
   PUBMED   30454010
  REMARK    GeneRIF: Our data uncover an essential role of the novel circular
            RNA circANKS1B in the metastasis of breast cancer, which
            demonstrate that therapeutic targeting of circANKS1B may better
            prevent breast cancer metastasis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 290)
  AUTHORS   Ghersi E, Noviello C and D'Adamio L.
  TITLE     Amyloid-beta protein precursor (AbetaPP) intracellular
            domain-associated protein-1 proteins bind to AbetaPP and modulate
            its processing in an isoform-specific manner
  JOURNAL   J Biol Chem 279 (47), 49105-49112 (2004)
   PUBMED   15347684
  REMARK    GeneRIF: the interaction between AbetaPP and AIDA-1 is regulated by
            alternative splicing of the AIDA-1 protein
REFERENCE   6  (residues 1 to 290)
  AUTHORS   Ghersi E, Vito P, Lopez P, Abdallah M and D'Adamio L.
  TITLE     The intracellular localization of amyloid beta protein precursor
            (AbetaPP) intracellular domain associated protein-1 (AIDA-1) is
            regulated by AbetaPP and alternative splicing
  JOURNAL   J Alzheimers Dis 6 (1), 67-78 (2004)
   PUBMED   15004329
  REMARK    GeneRIF: AbetaPP and the AIDA-1 proteins interact in vitro, in
            living cells and, endogenously, in leukemia cell lines;AIDA-1
            proteins are expressed at high levels in the brain
REFERENCE   7  (residues 1 to 290)
  AUTHORS   LeBrun DP.
  TITLE     E2A basic helix-loop-helix transcription factors in human leukemia
  JOURNAL   Front Biosci 8, s206-s222 (2003)
   PUBMED   12700034
  REMARK    GeneRIF: Evidence pertaining to leukemogenesis by the
            well-characterized E2A-fusion protein E2A-PBX1 is reviewed and its
            mechanistic implications are considered.
            Review article
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 290)
  AUTHORS   Petersen HH, Hilpert J, Militz D, Zandler V, Jacobsen C, Roebroek
            AJ and Willnow TE.
  TITLE     Functional interaction of megalin with the megalinbinding protein
            (MegBP), a novel tetratrico peptide repeat-containing adaptor
            molecule
  JOURNAL   J Cell Sci 116 (Pt 3), 453-461 (2003)
   PUBMED   12508107
REFERENCE   9  (residues 1 to 290)
  AUTHORS   Wiemels JL, Leonard BC, Wang Y, Segal MR, Hunger SP, Smith MT,
            Crouse V, Ma X, Buffler PA and Pine SR.
  TITLE     Site-specific translocation and evidence of postnatal origin of the
            t(1;19) E2A-PBX1 fusion in childhood acute lymphoblastic leukemia
  JOURNAL   Proc Natl Acad Sci U S A 99 (23), 15101-15106 (2002)
   PUBMED   12415113
  REMARK    GeneRIF: site-specific translocation and evidence of postnatal
            origin of the t(1;19) fusion in childhood acute lymphoblastic
            leukemia
REFERENCE   10 (residues 1 to 290)
  AUTHORS   Fu X, McGrath S, Pasillas M, Nakazawa S and Kamps MP.
  TITLE     EB-1, a tyrosine kinase signal transduction gene, is
            transcriptionally activated in the t(1;19) subset of pre-B ALL,
            which express oncoprotein E2a-Pbx1
  JOURNAL   Oncogene 18 (35), 4920-4929 (1999)
   PUBMED   10490826
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP193713.1, AK315954.1 and
            BC150204.1.
            
            Summary: This gene encodes a multi-domain protein that is
            predominantly expressed in brain and testis. This protein interacts
            with amyloid beta protein precursor (AbetaPP) and may have a role
            in normal brain development, and in the pathogenesis of Alzheimer's
            disease. Expression of this gene has been shown to be elevated in
            patients with pre-B cell acute lymphocytic leukemia associated with
            t(1;19) translocation. Alternatively spliced transcript variants
            encoding different isoforms (some with different subcellular
            localization, PMID:15004329) have been described for this gene.
            [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (4) differs in the 5' UTR and
            coding region, in the 3' UTR and coding region, and contains an
            alternate in-frame exon compared to variant 1. The resulting
            isoform (d) has a shorter N-terminus, a longer and distinct
            C-terminus, and an additional segment compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK315954.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..290
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     Protein         1..290
                     /product="ankyrin repeat and sterile alpha motif
                     domain-containing protein 1B isoform d"
                     /note="E2a-Pbx1-associated protein; amyloid-beta precursor
                     protein intracellular domain associated protein 1; cajalin
                     2"
                     /calculated_mol_wt=32808
     Region          76..225
                     /region_name="PTB_Anks"
                     /note="Ankyrin repeat and sterile alpha motif (SAM)
                     domain-containing (Anks) protein family
                     Phosphotyrosine-binding (PTB) domain; cd01274"
                     /db_xref="CDD:269972"
     Site            order(95,174,194)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269972"
     Site            order(163..168,181,205,209)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269972"
     CDS             1..290
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /coded_by="NM_001204065.2:350..1222"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="GeneID:56899"
                     /db_xref="HGNC:HGNC:24600"
                     /db_xref="MIM:607815"
ORIGIN      
        1 mqgdarrrrn enyfddiprs klerqmaqss vceiwtnqna gfpfsaihqv hntgdwgeps
       61 itlrppneat astpvqywqh hpeklifqsc dykafylgsm likelrgtes tqdacakmra
      121 ncqksteqmk kvptiilsvs ykgvkfidat nkniiaehei rniscaaqdp edlstfayit
      181 kdlksnhhyc hvftafdvnl ayeiiltlgq afevayqlal qarkgghsst lpesfenkps
      241 kpipkprvsi rksvqidpse qktlanlpwi vepgqeakrg intkyettif
//
LOCUS       NP_001123918             176 aa            linear   PRI 28-DEC-2022
DEFINITION  protein CC2D2B isoform 4 [Homo sapiens].
ACCESSION   NP_001123918 XP_001718693 XP_001724785 XP_001725156
VERSION     NP_001123918.2
DBSOURCE    REFSEQ: accession NM_001130446.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 176)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe
            JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C,
            Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J,
            White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L,
            Morris JC, Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL365273.25 and AL513355.16.
            On Sep 13, 2008 this sequence version replaced NP_001123918.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK294399.1, SRR1660803.222338.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..176
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.1"
     Protein         1..176
                     /product="protein CC2D2B isoform 4"
                     /note="protein CC2D2B; uncharacterized protein C10orf131"
                     /calculated_mol_wt=19677
     Region          14..>170
                     /region_name="DUF5523"
                     /note="Family of unknown function (DUF5523); pfam17661"
                     /db_xref="CDD:435954"
     CDS             1..176
                     /gene="CC2D2B"
                     /gene_synonym="C10orf130; C10orf131"
                     /coded_by="NM_001130446.3:187..717"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS58090.1"
                     /db_xref="GeneID:387707"
                     /db_xref="HGNC:HGNC:31666"
ORIGIN      
        1 mgvqmseemd nitaeeiidk hlqkdldaee nqnvaktlrg kvreklkisk inkgeksste
       61 qlidseihqr sklspqtevs ldeslsffil sgeegsalgk sseqrpvnrs ypkcfslgvn
      121 lqnvaeseee efmkefiltd ilkvkaadye ddqeqikkqk anifvpsssp gnilsq
//
LOCUS       NP_001364319             209 aa            linear   PRI 28-DEC-2022
DEFINITION  solute carrier family 25 member 44 isoform 3 [Homo sapiens].
ACCESSION   NP_001364319
VERSION     NP_001364319.1
DBSOURCE    REFSEQ: accession NM_001377390.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 209)
  AUTHORS   Darbani B.
  TITLE     Genome Evolutionary Dynamics Meets Functional Genomics: A Case
            Story on the Identification of SLC25A44
  JOURNAL   Int J Mol Sci 22 (11), 5669 (2021)
   PUBMED   34073512
  REMARK    GeneRIF: Genome Evolutionary Dynamics Meets Functional Genomics: A
            Case Story on the Identification of SLC25A44.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 209)
  AUTHORS   Goldstein O, Gana-Weisz M, Attar R, Bar-Shira A, Lederkremer M,
            Shiner T, Thaler A, Mirelman A, Giladi N and Orr-Urtreger A.
  TITLE     The GBA-370Rec Parkinson's disease risk haplotype harbors a
            potentially pathogenic variant in the mitochondrial gene SLC25A44
  JOURNAL   Mol Genet Metab 133 (1), 109-112 (2021)
   PUBMED   33762134
  REMARK    GeneRIF: The GBA-370Rec Parkinson's disease risk haplotype harbors
            a potentially pathogenic variant in the mitochondrial gene
            SLC25A44.
REFERENCE   3  (residues 1 to 209)
  AUTHORS   Yoneshiro T, Wang Q, Tajima K, Matsushita M, Maki H, Igarashi K,
            Dai Z, White PJ, McGarrah RW, Ilkayeva OR, Deleye Y, Oguri Y,
            Kuroda M, Ikeda K, Li H, Ueno A, Ohishi M, Ishikawa T, Kim K, Chen
            Y, Sponton CH, Pradhan RN, Majd H, Greiner VJ, Yoneshiro M, Brown
            Z, Chondronikola M, Takahashi H, Goto T, Kawada T, Sidossis L,
            Szoka FC, McManus MT, Saito M, Soga T and Kajimura S.
  TITLE     BCAA catabolism in brown fat controls energy homeostasis through
            SLC25A44
  JOURNAL   Nature 572 (7771), 614-619 (2019)
   PUBMED   31435015
REFERENCE   4  (residues 1 to 209)
  AUTHORS   Woo D, Falcone GJ, Devan WJ, Brown WM, Biffi A, Howard TD, Anderson
            CD, Brouwers HB, Valant V, Battey TW, Radmanesh F, Raffeld MR,
            Baedorf-Kassis S, Deka R, Woo JG, Martin LJ, Haverbusch M, Moomaw
            CJ, Sun G, Broderick JP, Flaherty ML, Martini SR, Kleindorfer DO,
            Kissela B, Comeau ME, Jagiella JM, Schmidt H, Freudenberger P,
            Pichler A, Enzinger C, Hansen BM, Norrving B, Jimenez-Conde J,
            Giralt-Steinhauer E, Elosua R, Cuadrado-Godia E, Soriano C, Roquer
            J, Kraft P, Ayres AM, Schwab K, McCauley JL, Pera J, Urbanik A,
            Rost NS, Goldstein JN, Viswanathan A, Stogerer EM, Tirschwell DL,
            Selim M, Brown DL, Silliman SL, Worrall BB, Meschia JF, Kidwell CS,
            Montaner J, Fernandez-Cadenas I, Delgado P, Malik R, Dichgans M,
            Greenberg SM, Rothwell PM, Lindgren A, Slowik A, Schmidt R,
            Langefeld CD and Rosand J.
  CONSRTM   International Stroke Genetics Consortium
  TITLE     Meta-analysis of genome-wide association studies identifies 1q22 as
            a susceptibility locus for intracerebral hemorrhage
  JOURNAL   Am J Hum Genet 94 (4), 511-521 (2014)
   PUBMED   24656865
REFERENCE   5  (residues 1 to 209)
  AUTHORS   Ruark E, Seal S, McDonald H, Zhang F, Elliot A, Lau K, Perdeaux E,
            Rapley E, Eeles R, Peto J, Kote-Jarai Z, Muir K, Nsengimana J,
            Shipley J, Bishop DT, Stratton MR, Easton DF, Huddart RA, Rahman N
            and Turnbull C.
  CONSRTM   UK Testicular Cancer Collaboration (UKTCC)
  TITLE     Identification of nine new susceptibility loci for testicular
            cancer, including variants near DAZL and PRDM14
  JOURNAL   Nat Genet 45 (6), 686-689 (2013)
   PUBMED   23666240
REFERENCE   6  (residues 1 to 209)
  AUTHORS   Palmieri F.
  TITLE     The mitochondrial transporter family SLC25: identification,
            properties and physiopathology
  JOURNAL   Mol Aspects Med 34 (2-3), 465-484 (2013)
   PUBMED   23266187
  REMARK    GeneRIF: Compares and contrasts all the known human SLC25A* genes
            and includes functional information.
            Review article
REFERENCE   7  (residues 1 to 209)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 209)
  AUTHORS   Haitina T, Lindblom J, Renstrom T and Fredriksson R.
  TITLE     Fourteen novel human members of mitochondrial solute carrier family
            25 (SLC25) widely expressed in the central nervous system
  JOURNAL   Genomics 88 (6), 779-790 (2006)
   PUBMED   16949250
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL135927.14.
            
            Summary: SLC25A44 belongs to the SLC25 family of mitochondrial
            carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied
            by OMIM, Mar 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.62890.1,
                                           SRR14372079.2610677.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..209
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     Protein         1..209
                     /product="solute carrier family 25 member 44 isoform 3"
                     /calculated_mol_wt=23662
     Region          18..100
                     /region_name="Solcar 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00282"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96H78.1)"
     Site            20..42
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96H78.1)"
     Region          <35..105
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Site            71..90
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96H78.1)"
     Region          105..204
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Site            113..133
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96H78.1)"
     Site            185..201
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96H78.1)"
     CDS             1..209
                     /gene="SLC25A44"
                     /coded_by="NM_001377390.1:887..1516"
                     /note="isoform 3 is encoded by transcript variant 11"
                     /db_xref="GeneID:9673"
                     /db_xref="HGNC:HGNC:29036"
                     /db_xref="MIM:610824"
ORIGIN      
        1 medkrniqii ewehldkkkf yvfgvamtmm irvsvypftl irtrlqvqkg kslyhgtfda
       61 fikilradgi tglyrgflvn tftlisgqcy vttyeltrkf vadysqsntv kslvaggsas
      121 lvaqsitvpi dvvsqhlmmq rkgekmgrfq vrgnpegqgv vafgqtkdii rqilqadglr
      181 gfyrgyvasl ltyipnsavw wpfyhfyag
//
LOCUS       NP_001372149             189 aa            linear   PRI 28-DEC-2022
DEFINITION  cancer/testis antigen family 45 member A10 [Homo sapiens].
ACCESSION   NP_001372149
VERSION     NP_001372149.1
DBSOURCE    REFSEQ: accession NM_001385220.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 189)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 189)
  AUTHORS   Chen YT, Scanlan MJ, Venditti CA, Chua R, Theiler G, Stevenson BJ,
            Iseli C, Gure AO, Vasicek T, Strausberg RL, Jongeneel CV, Old LJ
            and Simpson AJ.
  TITLE     Identification of cancer/testis-antigen genes by massively parallel
            signature sequencing
  JOURNAL   Proc Natl Acad Sci U S A 102 (22), 7940-7945 (2005)
   PUBMED   15905330
REFERENCE   3  (residues 1 to 189)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D,
            Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL,
            Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles
            ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman
            R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P,
            Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E,
            Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA,
            Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A,
            Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM,
            Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N,
            Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford
            EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J,
            Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E,
            Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke
            G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V,
            Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis
            C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H,
            Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ,
            Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL,
            Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert
            J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock
            R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD,
            Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M,
            Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob
            L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S,
            Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A,
            Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L,
            Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD,
            Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall
            J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G,
            Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N,
            Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R,
            Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM,
            Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S,
            Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C,
            Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC,
            Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor
            PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K,
            Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana
            D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A,
            Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G,
            Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL,
            Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D,
            Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ,
            Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M,
            Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T,
            Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC240441.2.
            
            ##Evidence-Data-START##
            CDS exon combination :: CA419320.1, BI768969.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1968968,
                                    SAMEA2148874 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..189
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     Protein         1..189
                     /product="cancer/testis antigen family 45 member A10"
                     /note="cancer/testis antigen family 45 member A-like;
                     Cancer/testis antigen 45A10; Cancer/testis antigen family
                     45 member A5; Cancer/testis antigen 45-5; Cancer/testis
                     antigen 45A5"
                     /calculated_mol_wt=21014
     Region          121..183
                     /region_name="INT_SG_DDX_CT_C"
                     /note="INTS6/SAGE1/DDX26B/CT45 C-terminus; pfam15300"
                     /db_xref="CDD:434610"
     CDS             1..189
                     /gene="CT45A10"
                     /gene_synonym="CT45-5; CT45A5"
                     /coded_by="NM_001385220.1:119..688"
                     /db_xref="CCDS:CCDS76035.1"
                     /db_xref="GeneID:102723631"
                     /db_xref="HGNC:HGNC:51263"
ORIGIN      
        1 mtdktekvav dpetvfkrpr ecdspsyqkr qrmallarkq gagdsliags amskekklmt
       61 ghaippsqld sqiddftgfs kdgmmqkpgs napvggnvts nfsgddlecr giasspksqq
      121 einadikcqv vkeirclgrk yekifemleg vqgptavrkr ffesiikeaa rcmrrdfvkh
      181 lkkklkrmi
//
LOCUS       NP_001275698             495 aa            linear   PRI 29-DEC-2022
DEFINITION  dual specificity calcium/calmodulin-dependent 3',5'-cyclic
            nucleotide phosphodiesterase 1B isoform 4 [Homo sapiens].
ACCESSION   NP_001275698 XP_005269017
VERSION     NP_001275698.1
DBSOURCE    REFSEQ: accession NM_001288769.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 495)
  AUTHORS   Gootwine E, Abu-Siam M, Obolensky A, Rosov A, Honig H, Nitzan T,
            Shirak A, Ezra-Elia R, Yamin E, Banin E, Averbukh E, Hauswirth WW,
            Ofri R and Seroussi E.
  TITLE     Gene Augmentation Therapy for a Missense Substitution in the
            cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in
            Day-Blind Sheep
  JOURNAL   Invest Ophthalmol Vis Sci 58 (3), 1577-1584 (2017)
   PUBMED   28282490
  REMARK    GeneRIF: The c.1618G>A, p.Gly540Ser substitution in CNGA3 was
            identified as the causative mutation for a novel form of ACHM in
            Awassi sheep. Gene augmentation therapy restored vision in the
            affected sheep. This novel mutation provides a large-animal model
            that is valid for most human CNGA3 ACHM patients; the majority of
            them carry missense rather than premature-termination mutations.
REFERENCE   2  (residues 1 to 495)
  AUTHORS   Bollen E and Prickaerts J.
  TITLE     Phosphodiesterases in neurodegenerative disorders
  JOURNAL   IUBMB Life 64 (12), 965-970 (2012)
   PUBMED   23129425
  REMARK    Review article
REFERENCE   3  (residues 1 to 495)
  AUTHORS   Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
            Safari A, Liu D and Songyang Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   4  (residues 1 to 495)
  AUTHORS   Lakics V, Karran EH and Boess FG.
  TITLE     Quantitative comparison of phosphodiesterase mRNA distribution in
            human brain and peripheral tissues
  JOURNAL   Neuropharmacology 59 (6), 367-374 (2010)
   PUBMED   20493887
  REMARK    Erratum:[Neuropharmacology. 2013 Apr;67:532]
REFERENCE   5  (residues 1 to 495)
  AUTHORS   Vandeput F, Wolda SL, Krall J, Hambleton R, Uher L, McCaw KN,
            Radwanski PB, Florio V and Movsesian MA.
  TITLE     Cyclic nucleotide phosphodiesterase PDE1C1 in human cardiac
            myocytes
  JOURNAL   J Biol Chem 282 (45), 32749-32757 (2007)
   PUBMED   17726023
REFERENCE   6  (residues 1 to 495)
  AUTHORS   Yu J, Wolda SL, Frazier AL, Florio VA, Martins TJ, Snyder PB,
            Harris EA, McCaw KN, Farrell CA, Steiner B, Bentley JK, Beavo JA,
            Ferguson K and Gelinas R.
  TITLE     Identification and characterisation of a human
            calmodulin-stimulated phosphodiesterase PDE1B1
  JOURNAL   Cell Signal 9 (7), 519-529 (1997)
   PUBMED   9419816
REFERENCE   7  (residues 1 to 495)
  AUTHORS   Spence S, Rena G, Sullivan M, Erdogan S and Houslay MD.
  TITLE     Receptor-mediated stimulation of lipid signalling pathways in CHO
            cells elicits the rapid transient induction of the PDE1B isoform of
            Ca2+/calmodulin-stimulated cAMP phosphodiesterase
  JOURNAL   Biochem J 321 (Pt 1) (Pt 1), 157-163 (1997)
   PUBMED   9003415
REFERENCE   8  (residues 1 to 495)
  AUTHORS   Jiang X, Li J, Paskind M and Epstein PM.
  TITLE     Inhibition of calmodulin-dependent phosphodiesterase induces
            apoptosis in human leukemic cells
  JOURNAL   Proc Natl Acad Sci U S A 93 (20), 11236-11241 (1996)
   PUBMED   8855339
REFERENCE   9  (residues 1 to 495)
  AUTHORS   Loughney K, Martins TJ, Harris EA, Sadhu K, Hicks JB, Sonnenburg
            WK, Beavo JA and Ferguson K.
  TITLE     Isolation and characterization of cDNAs corresponding to two human
            calcium, calmodulin-regulated, 3',5'-cyclic nucleotide
            phosphodiesterases
  JOURNAL   J Biol Chem 271 (2), 796-806 (1996)
   PUBMED   8557689
REFERENCE   10 (residues 1 to 495)
  AUTHORS   Repaske DR, Swinnen JV, Jin SL, Van Wyk JJ and Conti M.
  TITLE     A polymerase chain reaction strategy to identify and clone cyclic
            nucleotide phosphodiesterase cDNAs. Molecular cloning of the cDNA
            encoding the 63-kDa calmodulin-dependent phosphodiesterase
  JOURNAL   J Biol Chem 267 (26), 18683-18688 (1992)
   PUBMED   1326532
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK296422.1, BC032226.1 and
            BX538092.1.
            On Jan 4, 2014 this sequence version replaced XP_005269017.1.
            
            Summary: The protein encoded by this gene belongs to the cyclic
            nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily.
            Members of the PDE1 family are calmodulin-dependent PDEs that are
            stimulated by a calcium-calmodulin complex. This PDE has
            dual-specificity for the second messengers, cAMP and cGMP, with a
            preference for cGMP as a substrate. cAMP and cGMP function as key
            regulators of many important physiological processes. Alternatively
            spliced transcript variants encoding different isoforms have been
            described for this gene.[provided by RefSeq, Jul 2011].
            
            Transcript Variant: This variant (4) contains a distinct 5' UTR,
            lacks part of the 5' coding region, and uses an alternate start
            codon, compared to variant 1. The encoded isoform (4) has a shorter
            and distinct N-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296422.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..495
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     Protein         1..495
                     /product="dual specificity calcium/calmodulin-dependent
                     3',5'-cyclic nucleotide phosphodiesterase 1B isoform 4"
                     /EC_number="3.1.4.17"
                     /note="dual specificity calcium/calmodulin-dependent
                     3',5'-cyclic nucleotide phosphodiesterase 1B;
                     calcium/calmodulin-stimulated cyclic nucleotide
                     phosphodiesterase; presumed 63kDa form of the type 1
                     cyclic nucleotide phosphodiesterase family known as PDE1B;
                     calmodulin-stimulated phosphodiesterase PDE1B1; cam-PDE
                     1B; 63 kDa Cam-PDE; phosphodiesterase 1B,
                     calmodulin-dependent; epididymis secretory sperm binding
                     protein Li 79p"
                     /calculated_mol_wt=56492
     Region          36..96
                     /region_name="PDEase_I_N"
                     /note="3'5'-cyclic nucleotide phosphodiesterase
                     N-terminal; pfam08499"
                     /db_xref="CDD:430035"
     Region          181..408
                     /region_name="PDEase_I"
                     /note="3'5'-cyclic nucleotide phosphodiesterase;
                     pfam00233"
                     /db_xref="CDD:425542"
     Site            order(186,222..223,329)
                     /site_type="other"
                     /note="Zn2+ binding site [ion binding]"
                     /db_xref="CDD:238032"
     Site            223
                     /site_type="other"
                     /note="Mg2+ binding site [ion binding]"
                     /db_xref="CDD:238032"
     CDS             1..495
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /coded_by="NM_001288769.2:137..1624"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS73477.1"
                     /db_xref="GeneID:5153"
                     /db_xref="HGNC:HGNC:8775"
                     /db_xref="MIM:171891"
ORIGIN      
        1 mvkqlengei nieelkknle ytaslleavy idetrqildt edelqelrsd avpsevrdwl
       61 astftqqara kgrraeekpk frsivhavqa gifvermfrr tytsvgptys tavlnclknl
      121 dlwcfdvfsl nqaaddhalr tivfelltrh nlisrfkipt vflmsfldal etgygkyknp
      181 yhnqihaadv tqtvhcfllr tgmvhclsei ellaiifaaa ihdyehtgtt nsfhiqtkse
      241 caivyndrsv lenhhissvf rlmqddemni finltkdefv elralviemv latdmschfq
      301 qvktmktalq qleridkpka lslllhaadi shptkqwlvh srwtkalmee ffrqgdkeae
      361 lglpfsplcd rtstlvaqsq igfidfivep tfsvltdvae ksvqpladed sksknqpsfq
      421 wrqpsldvev gdpnpdvvsf rstwvkriqe nkqkwkeraa sgitnqmsid elspceeeap
      481 pspaedehnq ngnld
//
LOCUS       NP_001001674             312 aa            linear   PRI 29-DEC-2022
DEFINITION  olfactory receptor 4F15 [Homo sapiens].
ACCESSION   NP_001001674
VERSION     NP_001001674.1
DBSOURCE    REFSEQ: accession NM_001001674.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 312)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (residues 1 to 312)
  AUTHORS   Gilad Y, Bustamante CD, Lancet D and Paabo S.
  TITLE     Natural selection on the olfactory receptor gene family in humans
            and chimpanzees
  JOURNAL   Am J Hum Genet 73 (3), 489-501 (2003)
   PUBMED   12908129
REFERENCE   3  (residues 1 to 312)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC107977.13.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332238.5/ ENSP00000333184.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..312
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     Protein         1..312
                     /product="olfactory receptor 4F15"
                     /note="olfactory receptor OR15-14"
                     /calculated_mol_wt=35238
     Site            5
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NGB8.1)"
     Site            26..49
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB8.1)"
     Region          37..291
                     /region_name="7tmA_OR4-like"
                     /note="olfactory receptor family 4 and related proteins,
                     member of the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15226"
                     /db_xref="CDD:320354"
     Site            58..79
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB8.1)"
     Region          59..85
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320354"
     Site            order(81,84..85,97..102,104..105,108,153,155..159,195,
                     198..200,202..204,206..207,251,254..255,257..258,261,
                     265..266,268..270,273,276..277)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320354"
     Region          97..127
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320354"
     Site            101..120
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB8.1)"
     Region          140..161
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320354"
     Site            140..158
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB8.1)"
     Region          195..225
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320354"
     Site            196..219
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB8.1)"
     Region          231..261
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320354"
     Site            236..258
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB8.1)"
     Region          266..291
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320354"
     Site            270..289
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB8.1)"
     CDS             1..312
                     /gene="OR4F15"
                     /coded_by="NM_001001674.2:109..1047"
                     /db_xref="CCDS:CCDS32342.1"
                     /db_xref="GeneID:390649"
                     /db_xref="HGNC:HGNC:15078"
ORIGIN      
        1 mngmnhsvvs efvfmgltns reiqlllfvf sllfyfasmm gnlvivftvt mdahlhspmy
       61 fllanlsiid mafcsitapk micdifkkhk aisfrgcitq iffshalggt emvlliamaf
      121 drymaickpl hyltimsprm clyflatssi iglihslvql vfvvdlpfcg pnifdsfycd
      181 lprllrlact ntqelefmvt vnsglisvgs fvllvisyif ilftvwkhss gglakalstl
      241 sahvtvvilf fgplmffytw psptshldky laifdafitp flnpviytfr nkdmkvamrr
      301 lcsrlahftk il
//
LOCUS       NP_001372000             736 aa            linear   PRI 29-DEC-2022
DEFINITION  zinc finger protein 839 isoform 6 [Homo sapiens].
ACCESSION   NP_001372000
VERSION     NP_001372000.1
DBSOURCE    REFSEQ: accession NM_001385071.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 736)
  AUTHORS   Yang YP, Ting WC, Chen LM, Lu TL and Bao BY.
  TITLE     Polymorphisms in MicroRNA Binding Sites Predict Colorectal Cancer
            Survival
  JOURNAL   Int J Med Sci 14 (1), 53-57 (2017)
   PUBMED   28138309
  REMARK    GeneRIF: ZNF839 single nucleotide polymorphism association with
            colorectal cancer patients survival
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 736)
  AUTHORS   Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH,
            Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT and Old
            LJ.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL352978.6 and AL137229.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1313260.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145774, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..736
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.31"
     Protein         1..736
                     /product="zinc finger protein 839 isoform 6"
                     /note="renal carcinoma antigen NY-REN-50"
                     /calculated_mol_wt=79285
     Region          7..729
                     /region_name="DUF4764"
                     /note="Domain of unknown function (DUF4764); pfam15961"
                     /db_xref="CDD:435038"
     CDS             1..736
                     /gene="ZNF839"
                     /gene_synonym="C14orf131"
                     /coded_by="NM_001385071.1:222..2432"
                     /note="isoform 6 is encoded by transcript variant 7"
                     /db_xref="GeneID:55778"
                     /db_xref="HGNC:HGNC:20345"
ORIGIN      
        1 mllpttiqpq tarksqlprg nsclvglhia spqllrvqpl vrtepqscfl sdlcqppaqg
       61 fvqrplpalq vvpakrvpap kapdeqgsml tplsasdpla vtslssssah pfisnlhtrh
      121 teklkkslkv ktrsgrvsrp pkykakdykf iktedladgh lsdsddysel cveededqre
      181 rhalfdlssc slrpksfkcq tceksyigkg glarhfklnp ghgqldpemv lsekasgstl
      241 rgcteertls ltslglsmpa dpceggarsc lvtesarggl qflqqcdred lvelalpqla
      301 qvvtvyefll mkvekdhlak pffpaiykef eelhkmvkkm cqdylsssgl csqetleinn
      361 dkvaeslgit eflrkkeihp dnlgpkhlsr dmdgeqlega ssekrereaa eeglasvkrp
      421 rrealsndtt eslaansrgr ekprplhala agfsppvnvt vsprseesht ttvsggngsv
      481 fqagpqlqal anlearrgsi gaalssrdvs glpvyaqsge prrltqaqva afpgenaleh
      541 ssdqdtwdsl rspgfcspls sgggaeslpp ggpghaeagh lgkvcdfhln hqqpsptsvl
      601 ptevaapple kilsvdsvav dcayrtvpkp gpqpgphgsl ltegclrsls gdlnrfpcgm
      661 evhsgqrele svvavgeama feisngshel lsqgqkqifi qtsdglilsp pgtivsqeed
      721 ivtvtdaegr acgwar
//
LOCUS       NP_001009934             302 aa            linear   PRI 29-DEC-2022
DEFINITION  deoxyribonuclease-1-like 1 precursor [Homo sapiens].
ACCESSION   NP_001009934
VERSION     NP_001009934.1
DBSOURCE    REFSEQ: accession NM_001009934.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 302)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 302)
  AUTHORS   Ueki M, Kimura-Kataoka K, Fujihara J, Takeshita H, Iida R and
            Yasuda T.
  TITLE     Evaluation of all nonsynonymous single-nucleotide polymorphisms in
            the gene encoding human deoxyribonuclease I-like 1, possibly
            implicated in the blocking of endocytosis-mediated foreign gene
            transfer
  JOURNAL   DNA Cell Biol 33 (2), 79-87 (2014)
   PUBMED   24329527
  REMARK    GeneRIF: genotyping of all 21 nonsynonymous DNase 1L1 SNPs was
            performed in 16 populations representing 3 ethnic groups; 2
            activity-abolishing and 4 activity-reducing SNPs were confirmed to
            be functional; may be plausible that a minor allele of 6 SNPs
            producing a loss-of-function or low-activity variant could serve as
            a risk factor for disease
REFERENCE   3  (residues 1 to 302)
  AUTHORS   Grimm M, Schmitt S, Teriete P, Biegner T, Stenzl A, Hennenlotter J,
            Muhs HJ, Munz A, Nadtotschi T, Konig K, Sanger J, Feyen O, Hofmann
            H, Reinert S and Coy JF.
  TITLE     A biomarker based detection and characterization of carcinomas
            exploiting two fundamental biophysical mechanisms in mammalian
            cells
  JOURNAL   BMC Cancer 13, 569 (2013)
   PUBMED   24304513
  REMARK    GeneRIF: DNASEX and TKTL1 detection in patient blood is associated
            with poor disease-free survival rate in oral squamous cell
            carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 302)
  AUTHORS   Mohan Kumar D, Yamaguchi M, Miura K, Lin M, Los M, Coy JF and
            Rikihisa Y.
  TITLE     Ehrlichia chaffeensis uses its surface protein EtpE to bind
            GPI-anchored protein DNase X and trigger entry into mammalian cells
  JOURNAL   PLoS Pathog 9 (10), e1003666 (2013)
   PUBMED   24098122
  REMARK    GeneRIF: Yeast two-hybrid screening revealed that DNase X, a
            glycosylphosphatidyl inositol-anchored mammalian cell-surface
            protein binds EtpE-C.
REFERENCE   5  (residues 1 to 302)
  AUTHORS   Appierto V, Bardella L, Vijayasarathy C, Avadhani N, Sgaramella V
            and Biunno I.
  TITLE     Functional characterization of a human DNase-like protein encoded
            by a gene positioned in Xq28
  JOURNAL   Gene 188 (1), 119-122 (1997)
   PUBMED   9099869
REFERENCE   6  (residues 1 to 302)
  AUTHORS   Chen EY, Zollo M, Mazzarella R, Ciccodicola A, Chen CN, Zuo L,
            Heiner C, Burough F, Repetto M, Schlessinger D and D'Urso M.
  TITLE     Long-range sequence analysis in Xq28: thirteen known and six
            candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and
            G6PD loci
  JOURNAL   Hum Mol Genet 5 (5), 659-668 (1996)
   PUBMED   8733135
REFERENCE   7  (residues 1 to 302)
  AUTHORS   Coy JF, Velhagen I, Himmele R, Delius H, Poustka A and Zentgraf H.
  TITLE     Isolation, differential splicing and protein expression of a DNase
            on the human X chromosome
  JOURNAL   Cell Death Differ 3 (2), 199-206 (1996)
   PUBMED   17180083
REFERENCE   8  (residues 1 to 302)
  AUTHORS   Pergolizzi R, Appierto V, Bosetti A, DeBellis GL, Rovida E and
            Biunno I.
  TITLE     Cloning of a gene encoding a DNase I-like endonuclease in the human
            Xq28 region
  JOURNAL   Gene 168 (2), 267-270 (1996)
   PUBMED   8654957
REFERENCE   9  (residues 1 to 302)
  AUTHORS   Parrish JE, Ciccodicola A, Wehhert M, Cox GF, Chen E and Nelson DL.
  TITLE     A muscle-specific DNase I-like gene in human Xq28
  JOURNAL   Hum Mol Genet 4 (9), 1557-1564 (1995)
   PUBMED   8541839
REFERENCE   10 (residues 1 to 302)
  AUTHORS   Bione S, Tamanini F, Maestrini E, Tribioli C, Poustka A, Torri G,
            Rivella S and Toniolo D.
  TITLE     Transcriptional organization of a 450-kb region of the human X
            chromosome in Xq28
  JOURNAL   Proc Natl Acad Sci U S A 90 (23), 10977-10981 (1993)
   PUBMED   8248200
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC245140.2, AL079680.1,
            BG468580.1, BC028092.1, BE900752.1 and AW445150.1.
            
            Summary: This gene encodes a deoxyribonuclease protein that shows
            high sequence similarity to DNase I. The encoded protein is
            localized to the endoplasmic reticulum and modified by N-linked
            glycosylation. Alternate transcriptional splice variants encoding
            the same protein have been observed. [provided by RefSeq, Jan
            2015].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1417091.1,
                                           SRR14038192.2657382.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..302
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..302
                     /product="deoxyribonuclease-1-like 1 precursor"
                     /EC_number="3.1.21.-"
                     /note="DNase I-like, muscle-specific; DNase I,
                     lysosomal-like; DNase I-like 1; deoxyribonuclease I-like
                     1"
                     /calculated_mol_wt=31967
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1944
     Region          2..273
                     /region_name="EEP"
                     /note="Exonuclease-Endonuclease-Phosphatase (EEP) domain
                     superfamily; cl00490"
                     /db_xref="CDD:444936"
     mat_peptide     19..302
                     /product="Deoxyribonuclease-1-like 1. /id=PRO_0000007284"
                     /note="propagated from UniProtKB/Swiss-Prot (P49184.1)"
                     /calculated_mol_wt=31967
     Site            order(25..26,28,32,57,59..61,94..95,97,125,148,151,182,
                     184,189,222,226..227,264..265)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:197337"
     Site            order(25,57,97,148,182,184,227,264..265)
                     /site_type="active"
                     /note="putative catalytic site [active]"
                     /db_xref="CDD:197337"
     Site            order(25,57,264)
                     /site_type="other"
                     /note="putative Mg binding site IVb [ion binding]"
                     /db_xref="CDD:197337"
     Site            order(27,148,182,184,265)
                     /site_type="other"
                     /note="putative phosphate binding site [ion binding]"
                     /db_xref="CDD:197337"
     Site            27
                     /site_type="other"
                     /note="actin binding site [polypeptide binding]"
                     /db_xref="CDD:197337"
     Site            order(28,32,59..61,94..95,97,125,148,151,182,184,189,226,
                     265)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:197337"
     Site            order(118,126)
                     /site_type="other"
                     /note="Ca binding site II [ion binding]"
                     /db_xref="CDD:197337"
     Site            order(182,227,265)
                     /site_type="other"
                     /note="putative Mg binding site IVa [ion binding]"
                     /db_xref="CDD:197337"
     Site            order(186,212)
                     /site_type="metal-binding"
                     /note="metal binding site III [ion binding]"
                     /db_xref="CDD:197337"
     Site            order(215,217)
                     /site_type="other"
                     /note="Ca binding site I [ion binding]"
                     /db_xref="CDD:197337"
     Site            261
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16107205; propagated from
                     UniProtKB/Swiss-Prot (P49184.1)"
     CDS             1..302
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /coded_by="NM_001009934.3:299..1207"
                     /db_xref="CCDS:CCDS14747.1"
                     /db_xref="GeneID:1774"
                     /db_xref="HGNC:HGNC:2957"
                     /db_xref="MIM:300081"
ORIGIN      
        1 mhyptallfl ilangaqafr icafnaqrlt lakvareqvm dtlvrilarc dimvlqevvd
       61 ssgsaiplll relnrfdgsg pystlsspql grstymetyv yfyrshktqv lssyvynded
      121 dvfarepfva qfslpsnvlp slvlvplhtt pkavekelna lydvflevsq hwqskdvill
      181 gdfnadcasl tkkrldklel rtepgfhwvi adgedttvra sthctydrvv lhgercrsll
      241 htaaafdfpt sfqlteeeal nisdhypvev elklsqahsv qplsltvlll lsllspqlcp
      301 aa
//
LOCUS       NP_001364464             221 aa            linear   PRI 29-DEC-2022
DEFINITION  dynein light chain Tctex-type 4 [Homo sapiens].
ACCESSION   NP_001364464 XP_011539677
VERSION     NP_001364464.1
DBSOURCE    REFSEQ: accession NM_001377535.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 221)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 221)
  AUTHORS   Freitas MJ, Korrodi-Gregorio L, Morais-Santos F, Cruz e Silva Ed
            and Fardilha M.
  TITLE     TCTEX1D4 interactome in human testis: unraveling the function of
            dynein light chain in spermatozoa
  JOURNAL   OMICS 18 (4), 242-253 (2014)
   PUBMED   24606217
  REMARK    GeneRIF: 40 novel TCTEX1D4 interactors in human spermatozoa have
            been identified.
REFERENCE   3  (residues 1 to 221)
  AUTHORS   Korrodi-Gregorio L, Vieira SI, Esteves SL, Silva JV, Freitas MJ,
            Brauns AK, Luers G, Abrantes J, Esteves PJ, da Cruz E Silva OA,
            Fardilha M and da Cruz E Silva EF.
  TITLE     TCTEX1D4, a novel protein phosphatase 1 interactor: connecting the
            phosphatase to the microtubule network
  JOURNAL   Biol Open 2 (5), 453-465 (2013)
   PUBMED   23789093
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 221)
  AUTHORS   Fardilha M, Esteves SL, Korrodi-Gregorio L, Vintem AP, Domingues
            SC, Rebelo S, Morrice N, Cohen PT, da Cruz e Silva OA and da Cruz e
            Silva EF.
  TITLE     Identification of the human testis protein phosphatase 1
            interactome
  JOURNAL   Biochem Pharmacol 82 (10), 1403-1415 (2011)
   PUBMED   21382349
REFERENCE   5  (residues 1 to 221)
  AUTHORS   Meng Q, Lux A, Holloschi A, Li J, Hughes JM, Foerg T, McCarthy JE,
            Heagerty AM, Kioschis P, Hafner M and Garland JM.
  TITLE     Identification of Tctex2beta, a novel dynein light chain family
            member that interacts with different transforming growth
            factor-beta receptors
  JOURNAL   J Biol Chem 281 (48), 37069-37080 (2006)
   PUBMED   16982625
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL592166.16.
            On Jan 21, 2020 this sequence version replaced XP_011539677.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138524.280332.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2147920
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..221
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     Protein         1..221
                     /product="dynein light chain Tctex-type 4"
                     /note="tctex1 domain-containing protein 4; Tctex2 beta;
                     novel Tctex-1 family domain-containing protein;
                     tctex-2-beta; Tctex1 domain containing 4; protein N22.1"
                     /calculated_mol_wt=23222
     Region          1..52
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JR98.1)"
     Region          65..87
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JR98.1)"
     Site            66
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8CDY7; propagated from
                     UniProtKB/Swiss-Prot (Q5JR98.1)"
     Region          108..221
                     /region_name="DLC-like_TCTEX1D4"
                     /note="dynein light chain (DLC)-like domain found in
                     Tctex1 domain-containing protein 4 (TCTEX1D4) and similar
                     proteins; cd21461"
                     /db_xref="CDD:412009"
     CDS             1..221
                     /gene="DYNLT4"
                     /gene_synonym="TCTEX1D4"
                     /coded_by="NM_001377535.1:178..843"
                     /db_xref="CCDS:CCDS30699.1"
                     /db_xref="GeneID:343521"
                     /db_xref="HGNC:HGNC:32315"
                     /db_xref="MIM:611713"
ORIGIN      
        1 masrplppgr qeeenakdsg rkpspvrprg clpsidearp agpgpapasr rgsmlglaas
       61 fsrrnslvgp gagpggqrps lgpvpplgsr vsfsglplap arwvapsyrt epvpgerwea
      121 araqraleaa laaglhdacy ssdeaarlvr elceqvhvrl relspprykl vcsvvlgpra
      181 gqgvhvvsra lwdvardgla svsytntslf avatvhglyc e
//
LOCUS       NP_001317486             918 aa            linear   PRI 29-DEC-2022
DEFINITION  band 4.1-like protein 3 isoform 5 [Homo sapiens].
ACCESSION   NP_001317486 XP_011523930
VERSION     NP_001317486.1
DBSOURCE    REFSEQ: accession NM_001330557.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 918)
  AUTHORS   Dickey BL, Nedjai B, Preece MD, Schell MJ, Boulware D, Whiting J,
            Sirak B, Abrahamsen M, Isaacs-Soriano KA, Kennedy K, Chung CH and
            Giuliano AR.
  TITLE     Methylation of HPV16 and EPB41L3 in oral gargles and the detection
            of early and late oropharyngeal cancer
  JOURNAL   Cancer Med 11 (20), 3735-3742 (2022)
   PUBMED   35619332
  REMARK    GeneRIF: Methylation of HPV16 and EPB41L3 in oral gargles and the
            detection of early and late oropharyngeal cancer.
REFERENCE   2  (residues 1 to 918)
  AUTHORS   Tuerxun G, Abulimiti T, Abudurexiti G, Abuduxikuer G, Zhang Y and
            Abulizi G.
  TITLE     Over-expression of EPB41L3 promotes apoptosis of human cervical
            carcinoma cells through PI3K/AKT signaling
  JOURNAL   Acta Biochim Pol 69 (2), 283-289 (2022)
   PUBMED   35569139
  REMARK    GeneRIF: Over-expression of EPB41L3 promotes apoptosis of human
            cervical carcinoma cells through PI3K/AKT signaling.
REFERENCE   3  (residues 1 to 918)
  AUTHORS   Zhang S, Guo M, Guo T, Yang M, Cheng J, Cui C, Kang J, Wang J, Nian
            Y, Ma W, Weng H and Weng H.
  TITLE     DAL-1/4.1B promotes the uptake of exosomes in lung cancer cells via
            Heparan Sulfate Proteoglycan 2 (HSPG2)
  JOURNAL   Mol Cell Biochem 477 (1), 241-254 (2022)
   PUBMED   34657240
  REMARK    GeneRIF: DAL-1/4.1B promotes the uptake of exosomes in lung cancer
            cells via Heparan Sulfate Proteoglycan 2 (HSPG2).
REFERENCE   4  (residues 1 to 918)
  AUTHORS   Wang H, Jiang Y, Yu L, Xu L, Guan R, Cai M, Dong K, Liang X, Bai J
            and Yu J.
  TITLE     The rs9953490 polymorphism of DAL-1 gene is associated with gastric
            cancer risk in the Han population in Northeast China
  JOURNAL   BMC Gastroenterol 21 (1), 354 (2021)
   PUBMED   34579655
  REMARK    GeneRIF: The rs9953490 polymorphism of DAL-1 gene is associated
            with gastric cancer risk in the Han population in Northeast China.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 918)
  AUTHORS   Yuan X, Piao L, Wang L, Han X, Tong L, Shao S, Xu X, Zhuang M and
            Liu Z.
  TITLE     Erythrocyte membrane protein band 4.1-like 3 inhibits osteosarcoma
            cell invasion through regulation of Snai1-induced
            epithelial-to-mesenchymal transition
  JOURNAL   Aging (Albany NY) 13 (2), 1947-1961 (2020)
   PUBMED   33323539
  REMARK    GeneRIF: Erythrocyte membrane protein band 4.1-like 3 inhibits
            osteosarcoma cell invasion through regulation of Snai1-induced
            epithelial-to-mesenchymal transition.
REFERENCE   6  (residues 1 to 918)
  AUTHORS   Tan JS, Mohandas N and Conboy JG.
  TITLE     Evolutionarily conserved coupling of transcription and alternative
            splicing in the EPB41 (protein 4.1R) and EPB41L3 (protein 4.1B)
            genes
  JOURNAL   Genomics 86 (6), 701-707 (2005)
   PUBMED   16242908
REFERENCE   7  (residues 1 to 918)
  AUTHORS   Tran YK, Bogler O, Gorse KM, Wieland I, Green MR and Newsham IF.
  TITLE     A novel member of the NF2/ERM/4.1 superfamily with growth
            suppressing properties in lung cancer
  JOURNAL   Cancer Res 59 (1), 35-43 (1999)
   PUBMED   9892180
REFERENCE   8  (residues 1 to 918)
  AUTHORS   Peters LL, Weier HU, Walensky LD, Snyder SH, Parra M, Mohandas N
            and Conboy JG.
  TITLE     Four paralogous protein 4.1 genes map to distinct chromosomes in
            mouse and human
  JOURNAL   Genomics 54 (2), 348-350 (1998)
   PUBMED   9828140
REFERENCE   9  (residues 1 to 918)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   10 (residues 1 to 918)
  AUTHORS   Adams MD, Soares MB, Kerlavage AR, Fields C and Venter JC.
  TITLE     Rapid cDNA sequencing (expressed sequence tags) from a
            directionally cloned human infant brain cDNA library
  JOURNAL   Nat Genet 4 (4), 373-380 (1993)
   PUBMED   8401585
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP005059.2 and AP005671.2.
            On Aug 29, 2016 this sequence version replaced XP_011523930.1.
            
            Transcript Variant: This variant (5), as well as variant 8, encodes
            isoform 5.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.194047.1,
                                           SRR1803617.233348.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..918
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.31"
     Protein         1..918
                     /product="band 4.1-like protein 3 isoform 5"
                     /note="band 4.1-like protein 3; differentially expressed
                     in adenocarcinoma of the lung protein 1"
                     /calculated_mol_wt=102157
     Region          112..301
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          296..389
                     /region_name="FERM_C_4_1_family"
                     /note="FERM domain C-lobe of Protein 4.1 family; cd13184"
                     /db_xref="CDD:270005"
     Site            order(305,322,324,330)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270005"
     Site            order(334,339..342,377,381,384..385)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Site            377..388
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Region          398..441
                     /region_name="FA"
                     /note="FERM adjacent (FA); pfam08736"
                     /db_xref="CDD:430180"
     Region          548..596
                     /region_name="SAB"
                     /note="SAB domain; pfam04382"
                     /db_xref="CDD:427911"
     Region          804..910
                     /region_name="4_1_CTD"
                     /note="4.1 protein C-terminal domain (CTD); pfam05902"
                     /db_xref="CDD:428665"
     CDS             1..918
                     /gene="EPB41L3"
                     /gene_synonym="4.1B; DAL-1; DAL1"
                     /coded_by="NM_001330557.2:97..2853"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS82237.1"
                     /db_xref="GeneID:23136"
                     /db_xref="HGNC:HGNC:3380"
                     /db_xref="MIM:605331"
ORIGIN      
        1 mttesgsdse skpdqeaepq eaagaqgrag apvpeppkee qqqaleqfaa aaahstpvrr
       61 evtdkeqefa araakqleyq qleddklsqk ssssklsrsp lkivkkpksm qckvilldgs
      121 eytcdvekrs rgqvlfdkvc ehlnllekdy fgltyrdaen qknwldpake ikkqvrsgaw
      181 hfsfnvkfyp pdpaqlsedi tryylclqlr ddivsgrlpc sfvtlallgs ytvqselgdy
      241 dpdecgsdyi sefrfapnht keledkviel hkshrgmtpa eaemhflena kklsmygvdl
      301 hhakdsegve imlgvcasgl liyrdrlrin rfawpkvlki sykrnnfyik irpgefeqfe
      361 stigfklpnh raakrlwkvc vehhtffrll lpeappkkfl tlgskfrysg rtqaqtrras
      421 alidrpapyf erssskrytm srsldgasvn enheiymkds msaaevgtgq yattkgisqt
      481 nlittvtpek kaeeerdeee dkrrkgeevt pisairhegk tdsertdtaa dgettatesd
      541 qeedaelkaq elektqddlm khqtniselk rtfletstdt avtnewekrl stspvrlaar
      601 qedapmiepl vpeetkqssg eklmdgseif sllesarkpt efiggvtsts qswvqkmetk
      661 tessgietep tvhhlplste kvvqetvlve errvvhasgd asysagdsgd aaaqpaftgi
      721 kgkegsalte gakeeggeev akavleqeet aaasrerqee qsaaihiset leqkphfess
      781 tvktetisfg svspggvkle istkevpvvh tetktityes sqvdpgtdle pgvlmsaqti
      841 tsettstttt thitktvkgg isetriekri vitgdadidh dqalaqaike akeqhpdmsv
      901 tkvvvhkete itpedged
//
LOCUS       NP_005539                597 aa            linear   PRI 30-DEC-2022
DEFINITION  lysine--tRNA ligase isoform 2 [Homo sapiens].
ACCESSION   NP_005539
VERSION     NP_005539.1
DBSOURCE    REFSEQ: accession NM_005548.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 597)
  AUTHORS   Lee DH, Paik ES, Cho YJ, Lee YY, Lee B, Lee EJ, Choi JJ, Choi CH,
            Lee S, Choi JW and Lee JW.
  TITLE     Changes in subcellular localization of Lysyl-tRNA synthetase and
            the 67-kDa laminin receptor in epithelial ovarian cancer metastases
  JOURNAL   Cancer Biomark 35 (1), 99-109 (2022)
   PUBMED   35912727
  REMARK    GeneRIF: Changes in subcellular localization of Lysyl-tRNA
            synthetase and the 67-kDa laminin receptor in epithelial ovarian
            cancer metastases.
REFERENCE   2  (residues 1 to 597)
  AUTHORS   Lin SJ, Vona B, Barbalho PG, Kaiyrzhanov R, Maroofian R, Petree C,
            Severino M, Stanley V, Varshney P, Bahena P, Alzahrani F, Alhashem
            A, Pagnamenta AT, Aubertin G, Estrada-Veras JI, Hernandez HAD,
            Mazaheri N, Oza A, Thies J, Renaud DL, Dugad S, McEvoy J, Sultan T,
            Pais LS, Tabarki B, Villalobos-Ramirez D, Rad A, Galehdari H,
            Ashrafzadeh F, Sahebzamani A, Saeidi K, Torti E, Elloumi HZ, Mora
            S, Palculict TB, Yang H, Wren JD, Ben Fowler, Joshi M, Behra M,
            Burgess SM, Nath SK, Hanna MG, Kenna M, Merritt JL 2nd, Houlden H,
            Karimiani EG, Zaki MS, Haaf T, Alkuraya FS, Gleeson JG and Varshney
            GK.
  CONSRTM   Genomics England Research Consortium
  TITLE     Biallelic variants in KARS1 are associated with neurodevelopmental
            disorders and hearing loss recapitulated by the knockout zebrafish
  JOURNAL   Genet Med 23 (10), 1933-1943 (2021)
   PUBMED   34172899
  REMARK    GeneRIF: Biallelic variants in KARS1 are associated with
            neurodevelopmental disorders and hearing loss recapitulated by the
            knockout zebrafish.
REFERENCE   3  (residues 1 to 597)
  AUTHORS   Cappuccio G, Ceccatelli Berti C, Baruffini E, Sullivan J, Shashi V,
            Jewett T, Stamper T, Maitz S, Canonico F, Revah-Politi A, Kupchik
            GS, Anyane-Yeboa K, Aggarwal V, Benneche A, Bratland E, Berland S,
            D'Arco F, Alves CA, Vanderver A, Longo D, Bertini E, Torella A,
            Nigro V, D'Amico A, van der Knaap MS, Goffrini P and
            Brunetti-Pierri N.
  CONSRTM   Telethon Undiagnosed Diseases Program
  TITLE     Bi-allelic KARS1 pathogenic variants affecting functions of
            cytosolic and mitochondrial isoforms are associated with a
            progressive and multisystem disease
  JOURNAL   Hum Mutat 42 (6), 745-761 (2021)
   PUBMED   33942428
  REMARK    GeneRIF: Bi-allelic KARS1 pathogenic variants affecting functions
            of cytosolic and mitochondrial isoforms are associated with a
            progressive and multisystem disease.
REFERENCE   4  (residues 1 to 597)
  AUTHORS   Wu S, Hei Z, Zheng L, Zhou J, Liu Z, Wang J and Fang P.
  TITLE     Structural analyses of a human lysyl-tRNA synthetase mutant
            associated with autosomal recessive nonsyndromic hearing impairment
  JOURNAL   Biochem Biophys Res Commun 554, 83-88 (2021)
   PUBMED   33784510
  REMARK    GeneRIF: Structural analyses of a human lysyl-tRNA synthetase
            mutant associated with autosomal recessive nonsyndromic hearing
            impairment.
REFERENCE   5  (residues 1 to 597)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (residues 1 to 597)
  AUTHORS   Lamour V, Quevillon S, Diriong S, N'Guyen VC, Lipinski M and
            Mirande M.
  TITLE     Evolution of the Glx-tRNA synthetase family: the glutaminyl enzyme
            as a case of horizontal gene transfer
  JOURNAL   Proc Natl Acad Sci U S A 91 (18), 8670-8674 (1994)
   PUBMED   8078941
REFERENCE   7  (residues 1 to 597)
  AUTHORS   Shiba K, Suzuki N, Shigesada K, Namba Y, Schimmel P and Noda T.
  TITLE     Human cytoplasmic isoleucyl-tRNA synthetase: selective divergence
            of the anticodon-binding domain and acquisition of a new structural
            unit
  JOURNAL   Proc Natl Acad Sci U S A 91 (16), 7435-7439 (1994)
   PUBMED   8052601
REFERENCE   8  (residues 1 to 597)
  AUTHORS   Kaiser E, Hu B, Becher S, Eberhard D, Schray B, Baack M, Hameister
            H and Knippers R.
  TITLE     The human EPRS locus (formerly the QARS locus): a gene encoding a
            class I and a class II aminoacyl-tRNA synthetase
  JOURNAL   Genomics 19 (2), 280-290 (1994)
   PUBMED   8188258
REFERENCE   9  (residues 1 to 597)
  AUTHORS   Escalante C and Yang DC.
  TITLE     Expression of human aspartyl-tRNA synthetase in Escherichia coli.
            Functional analysis of the N-terminal putative amphiphilic helix
  JOURNAL   J Biol Chem 268 (8), 6014-6023 (1993)
   PUBMED   8449960
REFERENCE   10 (residues 1 to 597)
  AUTHORS   Norcum MT.
  TITLE     Structural analysis of the high molecular mass aminoacyl-tRNA
            synthetase complex. Effects of neutral salts and detergents
  JOURNAL   J Biol Chem 266 (23), 15398-15405 (1991)
   PUBMED   1651330
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315687.1, AF285758.1 and
            AA503390.1.
            
            Summary: Aminoacyl-tRNA synthetases are a class of enzymes that
            charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase
            is a homodimer localized to the cytoplasm which belongs to the
            class II family of tRNA synthetases. It has been shown to be a
            target of autoantibodies in the human autoimmune diseases,
            polymyositis or dermatomyositis. Alternatively spliced transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: D32053.1, BC004132.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302445.8/ ENSP00000303043.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..597
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q23.1"
     Protein         1..597
                     /product="lysine--tRNA ligase isoform 2"
                     /EC_number="6.1.1.6"
                     /note="lysine tRNA ligase; lysRS"
                     /calculated_mol_wt=67917
     Region          1..71
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15046.3)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q15046.3)"
     Region          12..577
                     /region_name="PLN02502"
                     /note="lysyl-tRNA synthetase"
                     /db_xref="CDD:215278"
     Site            88
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q15046.3)"
     Site            141
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q15046.3)"
     Site            207
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19524539; propagated from
                     UniProtKB/Swiss-Prot (Q15046.3)"
     Site            269..273
                     /site_type="other"
                     /note="motif 1"
                     /db_xref="CDD:238398"
     Site            order(301,323,325,331,335,487,494,497,501,553)
                     /site_type="active"
                     /db_xref="CDD:238398"
     Site            322..325
                     /site_type="other"
                     /note="motif 2"
                     /db_xref="CDD:238398"
     Site            550..553
                     /site_type="other"
                     /note="motif 3"
                     /db_xref="CDD:238398"
     Site            590
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q99MN1; propagated from
                     UniProtKB/Swiss-Prot (Q15046.3)"
     Site            591
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q99MN1; propagated from
                     UniProtKB/Swiss-Prot (Q15046.3)"
     Site            596
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q99MN1; propagated from
                     UniProtKB/Swiss-Prot (Q15046.3)"
     CDS             1..597
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /coded_by="NM_005548.3:27..1820"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS10923.1"
                     /db_xref="GeneID:3735"
                     /db_xref="HGNC:HGNC:6215"
                     /db_xref="MIM:601421"
ORIGIN      
        1 maavqaaevk vdgsepklsk nelkrrlkae kkvaekeakq kelsekqlsq ataaatnhtt
       61 dngvgpeees vdpnqyykir sqaihqlkvn gedpyphkfh vdisltdfiq kyshlqpgdh
      121 ltditlkvag rihakrasgg klifydlrge gvklqvmans rnykseeefi hinnklrrgd
      181 iigvqgnpgk tkkgelsiip yeitllspcl hmlphlhfgl kdketryrqr yldlilndfv
      241 rqkfiirski ityirsflde lgfleietpm mniipggava kpfityhnel dmnlymriap
      301 elyhkmlvvg gidrvyeigr qfrnegidlt hnpefttcef ymayadyhdl meitekmvsg
      361 mvkhitgsyk vtyhpdgpeg qaydvdftpp frrinmveel ekalgmklpe tnlfeteetr
      421 kilddicvak avecppprtt arlldklvge flevtcinpt ficdhpqims plakwhrske
      481 glterfelfv mkkeicnayt elndpmrqrq lfeeqakaka agddeamfid enfctaleyg
      541 lpptagwgmg idrvamfltd snnikevllf pamkpedkke nvattdtles ttvgtsv
//
LOCUS       NP_001374370             322 aa            linear   PRI 30-DEC-2022
DEFINITION  ceramide synthase 1 isoform 5 [Homo sapiens].
ACCESSION   NP_001374370
VERSION     NP_001374370.1
DBSOURCE    REFSEQ: accession NM_001387441.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 322)
  AUTHORS   Wang J, Zhang J, Ma D and Li X.
  TITLE     The Potential Role of CERS1 in Autophagy Through PI3K/AKT Signaling
            Pathway in Hypophysoma
  JOURNAL   Technol Cancer Res Treat 19, 1533033820977536 (2020)
   PUBMED   33267708
  REMARK    GeneRIF: The Potential Role of CERS1 in Autophagy Through PI3K/AKT
            Signaling Pathway in Hypophysoma.
REFERENCE   2  (residues 1 to 322)
  AUTHORS   Kim S, Simon E, Myers L, Hamm LL and Jazwinski SM.
  TITLE     Programmed Cell Death Genes Are Linked to Elevated Creatine Kinase
            Levels in Unhealthy Male Nonagenarians
  JOURNAL   Gerontology 62 (5), 519-529 (2016)
   PUBMED   26913518
  REMARK    GeneRIF: Single nucleotide polymorphisms in the gene LASS1
            associated with programmed cell death, providing a potential
            cellular mechanism for the effects on tissue damage and circulating
            Creatine kinase.
REFERENCE   3  (residues 1 to 322)
  AUTHORS   Vanni N, Fruscione F, Ferlazzo E, Striano P, Robbiano A, Traverso
            M, Sander T, Falace A, Gazzerro E, Bramanti P, Bielawski J, Fassio
            A, Minetti C, Genton P and Zara F.
  TITLE     Impairment of ceramide synthesis causes a novel progressive
            myoclonus epilepsy
  JOURNAL   Ann Neurol 76 (2), 206-212 (2014)
   PUBMED   24782409
REFERENCE   4  (residues 1 to 322)
  AUTHORS   Haddad SE, Khoury M, Daoud M, Kantar R, Harati H, Mousallem T,
            Alzate O, Meyer B and Boustany RM.
  TITLE     CLN5 and CLN8 protein association with ceramide synthase:
            biochemical and proteomic approaches
  JOURNAL   Electrophoresis 33 (24), 3798-3809 (2012)
   PUBMED   23160995
  REMARK    GeneRIF: This study highlights a close interaction between
            CLN5/CLN8 proteins, and their role in sphingolipid metabolism. Our
            findings suggest that CLN5p/CLN8p most likely are positive
            modulators of CerS1 and/or CerS2.
REFERENCE   5  (residues 1 to 322)
  AUTHORS   Sentelle RD, Senkal CE, Jiang W, Ponnusamy S, Gencer S, Selvam SP,
            Ramshesh VK, Peterson YK, Lemasters JJ, Szulc ZM, Bielawski J and
            Ogretmen B.
  TITLE     Ceramide targets autophagosomes to mitochondria and induces lethal
            mitophagy
  JOURNAL   Nat Chem Biol 8 (10), 831-838 (2012)
   PUBMED   22922758
  REMARK    Erratum:[Nat Chem Biol. 2012 Dec;8(12):1008]
REFERENCE   6  (residues 1 to 322)
  AUTHORS   Koybasi S, Senkal CE, Sundararaj K, Spassieva S, Bielawski J, Osta
            W, Day TA, Jiang JC, Jazwinski SM, Hannun YA, Obeid LM and Ogretmen
            B.
  TITLE     Defects in cell growth regulation by C18:0-ceramide and longevity
            assurance gene 1 in human head and neck squamous cell carcinomas
  JOURNAL   J Biol Chem 279 (43), 44311-44319 (2004)
   PUBMED   15317812
  REMARK    GeneRIF: LAG1 and C18-ceramide have roles in the regulation of
            growth of HNSCC
REFERENCE   7  (residues 1 to 322)
  AUTHORS   Guillas I, Jiang JC, Vionnet C, Roubaty C, Uldry D, Chuard R, Wang
            J, Jazwinski SM and Conzelmann A.
  TITLE     Human homologues of LAG1 reconstitute Acyl-CoA-dependent ceramide
            synthesis in yeast
  JOURNAL   J Biol Chem 278 (39), 37083-37091 (2003)
   PUBMED   12869556
REFERENCE   8  (residues 1 to 322)
  AUTHORS   Venkataraman K, Riebeling C, Bodennec J, Riezman H, Allegood JC,
            Sullards MC, Merrill AH Jr and Futerman AH.
  TITLE     Upstream of growth and differentiation factor 1 (uog1), a mammalian
            homolog of the yeast longevity assurance gene 1 (LAG1), regulates
            N-stearoyl-sphinganine (C18-(dihydro)ceramide) synthesis in a
            fumonisin B1-independent manner in mammalian cells
  JOURNAL   J Biol Chem 277 (38), 35642-35649 (2002)
   PUBMED   12105227
  REMARK    GeneRIF: regulates N-stearoyl-sphinganine (C18-(dihydro)ceramide)
            synthesis in a fumonisin B1-independent manner in mammalian cel
REFERENCE   9  (residues 1 to 322)
  AUTHORS   Jiang JC, Kirchman PA, Zagulski M, Hunt J and Jazwinski SM.
  TITLE     Homologs of the yeast longevity gene LAG1 in Caenorhabditis elegans
            and human
  JOURNAL   Genome Res 8 (12), 1259-1272 (1998)
   PUBMED   9872981
REFERENCE   10 (residues 1 to 322)
  AUTHORS   Lee SJ.
  TITLE     Expression of growth/differentiation factor 1 in the nervous
            system: conservation of a bicistronic structure
  JOURNAL   Proc Natl Acad Sci U S A 88 (10), 4250-4254 (1991)
   PUBMED   2034669
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005197.1.
            
            Summary: This gene encodes a ceramide synthase enzyme, which
            catalyzes the synthesis of ceramide, the hydrophobic moiety of
            sphingolipids. The encoded enzyme synthesizes 18-carbon (C18)
            ceramide in brain neurons. Elevated expression of this gene may be
            associated with increased longevity, while decreased expression of
            this gene may be associated with myoclonus epilepsy with dementia
            in human patients. This protein is transcribed from a monocistronic
            mRNA as well as a bicistronic mRNA, which also encodes growth
            differentiation factor 1. [provided by RefSeq, Jul 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968189
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..322
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     Protein         1..322
                     /product="ceramide synthase 1 isoform 5"
                     /EC_number="2.3.1.299"
                     /note="longevity assurance (LAG1, S. cerevisiae) homolog
                     1; upstream of GDF1; protein UOG-1; sphingoid base
                     N-stearoyltransferase CERS1; longevity assurance gene 1
                     protein homolog 1; Embryonic growth/differentiation factor
                     1"
                     /calculated_mol_wt=36130
     Region          98..296
                     /region_name="TLC"
                     /note="TRAM, LAG1 and CLN8 homology domains; smart00724"
                     /db_xref="CDD:214789"
     CDS             1..322
                     /gene="CERS1"
                     /gene_synonym="EPM8; GDF-1; GDF1; LAG1; LASS1; UOG1"
                     /coded_by="NM_001387441.1:87..1055"
                     /note="isoform 5 is encoded by transcript variant 6"
                     /db_xref="GeneID:10715"
                     /db_xref="HGNC:HGNC:14253"
                     /db_xref="MIM:606919"
ORIGIN      
        1 maaagpaagp tgpepmpsya qlvqrgwgsa laaargctdc gwglarrgla ehahlappel
       61 lllalgalgw talrsaatar lfrplakrcc lqprdaakmp esawkflfyl gswsysayll
      121 fgtdypffhd ppsvfydwtp gmavprdiaa ayllqgsfyg hsiyatlymd twrkdsvvml
      181 lhhvvtlili vssyafrdvq leftklniyf ksrggsyhrl halaadlgcl sfgfswfwfr
      241 lywfplkvly atshcslrtv pdipfyfffn allllltlmn lywflyivaf aakvltgqvh
      301 elkdlreydt aeaqslkpsk ae
//
LOCUS       NP_001317917             515 aa            linear   PRI 30-DEC-2022
DEFINITION  calcium-binding mitochondrial carrier protein SCaMC-2 isoform e
            [Homo sapiens].
ACCESSION   NP_001317917 XP_005251745
VERSION     NP_001317917.1
DBSOURCE    REFSEQ: accession NM_001330988.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 515)
  AUTHORS   Jabalameli MR, Fitzpatrick FM, Colombo R, Howles SA, Leggatt G,
            Walker V, Wiberg A, Kunji ERS and Ennis S.
  TITLE     Exome sequencing identifies a disease variant of the mitochondrial
            ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones
  JOURNAL   Mol Genet Genomic Med 9 (12), e1749 (2021)
   PUBMED   34346195
  REMARK    GeneRIF: Exome sequencing identifies a disease variant of the
            mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with
            kidney stones.
REFERENCE   2  (residues 1 to 515)
  AUTHORS   Cianciulli A, Menga A, Ferdinando P and Iacobazzi V.
  TITLE     FOXD3 acts as a repressor of the mitochondrial S-adenosylmethionine
            carrier (SLC25A26) gene expression in cancer cells
  JOURNAL   Biochimie 154, 25-34 (2018)
   PUBMED   30076902
  REMARK    GeneRIF: FOXD3 acts as a repressor of the mitochondrial
            S-adenosylmethionine carrier (SLC25A26) gene expression in cancer
            cells.
REFERENCE   3  (residues 1 to 515)
  AUTHORS   Palmieri F.
  TITLE     The mitochondrial transporter family SLC25: identification,
            properties and physiopathology
  JOURNAL   Mol Aspects Med 34 (2-3), 465-484 (2013)
   PUBMED   23266187
  REMARK    GeneRIF: Compares and contrasts all the known human SLC25A* genes
            and includes functional information.
            Review article
REFERENCE   4  (residues 1 to 515)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 515)
  AUTHORS   Letra A, Menezes R, Govil M, Fonseca RF, McHenry T, Granjeiro JM,
            Castilla EE, Orioli IM, Marazita ML and Vieira AR.
  TITLE     Follow-up association studies of chromosome region 9q and
            nonsyndromic cleft lip/palate
  JOURNAL   Am J Med Genet A 152A (7), 1701-1710 (2010)
   PUBMED   20583170
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 515)
  AUTHORS   Fiermonte G, De Leonardis F, Todisco S, Palmieri L, Lasorsa FM and
            Palmieri F.
  TITLE     Identification of the mitochondrial ATP-Mg/Pi transporter.
            Bacterial expression, reconstitution, functional characterization,
            and tissue distribution
  JOURNAL   J Biol Chem 279 (29), 30722-30730 (2004)
   PUBMED   15123600
  REMARK    GeneRIF: identification of three isoforms of the mitochondrial
            ATP-Mg/Pi carrier APC1, APC2 and APC3; they are most likely
            responsible for the net uptake or efflux of adenine nucleotides
            into or from the mitochondria [APC3]
REFERENCE   7  (residues 1 to 515)
  AUTHORS   del Arco A and Satrustegui J.
  TITLE     Identification of a novel human subfamily of mitochondrial carriers
            with calcium-binding domains
  JOURNAL   J Biol Chem 279 (23), 24701-24713 (2004)
   PUBMED   15054102
  REMARK    GeneRIF: SCaMC-2, has four variants generated by alternative
            splicing, resulting in proteins with a common C terminus but with
            variations in their N-terminal halves, including the loss of one to
            three EF-hand motifs
REFERENCE   8  (residues 1 to 515)
  AUTHORS   Mashima H, Ueda N, Ohno H, Suzuki J, Ohnishi H, Yasuda H, Tsuchida
            T, Kanamaru C, Makita N, Iiri T, Omata M and Kojima I.
  TITLE     A novel mitochondrial Ca2+-dependent solute carrier in the liver
            identified by mRNA differential display
  JOURNAL   J Biol Chem 278 (11), 9520-9527 (2003)
   PUBMED   12645546
  REMARK    GeneRIF: may play an important role in regulating the function of
            hepatocytes rather than in differentiation in vivo
REFERENCE   9  (residues 1 to 515)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL360268.14 and AL590708.18.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 3, 2016 this sequence version replaced XP_005251745.1.
            
            Summary: The protein encoded by this gene belongs to the family of
            calcium-binding mitochondrial carriers, with a characteristic
            mitochondrial carrier domain at the C-terminus. These proteins are
            found in the inner membranes of mitochondria, and function as
            transport proteins. They shuttle metabolites, nucleotides and
            cofactors through the mitochondrial membrane and thereby connect
            and/or regulate cytoplasm and matrix functions. This protein may
            function as an ATP-Mg/Pi carrier that mediates the transport of
            Mg-ATP in exchange for phosphate, and likely responsible for the
            net uptake or efflux of adenine nucleotides into or from the
            mitochondria. Alternatively spliced transcript variants encoding
            different isoforms with a common C-terminus but variable N-termini
            have been described for this gene. [provided by RefSeq, Jul 2012].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.127716.1,
                                           SRR11853563.33997.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000373069.10/
                                                  ENSP00000362160.5
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..515
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     Protein         1..515
                     /product="calcium-binding mitochondrial carrier protein
                     SCaMC-2 isoform e"
                     /note="short calcium-binding mitochondrial carrier 2;
                     small calcium-binding mitochondrial carrier 2;
                     calcium-binding mitochondrial carrier protein SCaMC-2;
                     mitochondrial ATP-Mg/Pi carrier protein 3; mitochondrial
                     Ca(2+)-dependent solute carrier protein 3; solute carrier
                     family 25 (mitochondrial carrier; phosphate carrier),
                     member 25"
                     /calculated_mol_wt=56752
     Region          48..>159
                     /region_name="EFh_PEF"
                     /note="The penta-EF hand (PEF) family; cl25352"
                     /db_xref="CDD:355382"
     Region          48..78
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320054"
     Site            order(62,69,94,96,98,105,125,127,129,136)
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:320054"
     Region          85..111
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320054"
     Region          112..145
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320054"
     Region          116..>205
                     /region_name="EFh_PI-PLC"
                     /note="EF-hand motif found in eukaryotic
                     phosphoinositide-specific phospholipase C (PI-PLC, EC
                     3.1.4.11) isozymes; cl28895"
                     /db_xref="CDD:333715"
     Region          116..145
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320029"
     Region          152..191
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320029"
     Region          237..491
                     /region_name="PTZ00169"
                     /note="ADP/ATP transporter on adenylate translocase;
                     Provisional"
                     /db_xref="CDD:240302"
     CDS             1..515
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /coded_by="NM_001330988.2:89..1636"
                     /note="isoform e is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS83420.1"
                     /db_xref="GeneID:114789"
                     /db_xref="HGNC:HGNC:20663"
                     /db_xref="MIM:608745"
ORIGIN      
        1 mvssvlcrcv aspppdaaat aasssasspa svgdpcggai cggpdhrlrl wrlfqtldvn
       61 rdgglcvndl avglrrlglh rtegelqkiv qagdkdldgq ldfeefvhyl qdhekklrlv
      121 fksldkkndg ridaqeimqs lrdlgvkise qqaekilkri rtghfwgpvt ymdkngtmti
      181 dwnewrdyhl lhpvenipei ilywkhstif dvgenltvpd eftveerqtg mwwrhlvagg
      241 gagavsrtct apldrlkvlm qvhasrsnnm givggftqmi reggarslwr gnginvlkia
      301 pesaikfmay eqikrlvgsd qetlriherl vagslagaia qssiypmevl ktrmalrktg
      361 qysgmldcar rilaregvaa fykgyvpnml giipyagidl avyetlknaw lqhyavnsad
      421 pgvfvllacg tmsstcgqla syplalvrtr mqaqasiega pevtmsslfk hilrtegafg
      481 lyrglapnfm kvipavsisy vvyenlkitl gvqsr
//
LOCUS       NP_001306071             190 aa            linear   PRI 30-DEC-2022
DEFINITION  adenylate kinase 2, mitochondrial isoform g [Homo sapiens].
ACCESSION   NP_001306071
VERSION     NP_001306071.1
DBSOURCE    REFSEQ: accession NM_001319142.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 190)
  AUTHORS   Kim H, Jeong M, Na DH, Ryu SH, Jeong EI, Jung K, Kang J, Lee HJ,
            Sim T, Yu DY, Yu HC, Cho BH and Jung YK.
  TITLE     AK2 is an AMP-sensing negative regulator of BRAF in tumorigenesis
  JOURNAL   Cell Death Dis 13 (5), 469 (2022)
   PUBMED   35585049
  REMARK    GeneRIF: AK2 is an AMP-sensing negative regulator of BRAF in
            tumorigenesis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 190)
  AUTHORS   Maslah N, Latiri M, Asnafi V, Feroul M, Bedjaoui N, Steimle T, Six
            E, Verhoyen E, Macintyre E, Lagresle-Peyrou C, Lhermitte L and
            Andrieu GP.
  TITLE     Adenylate kinase 2 expression and addiction in T-ALL
  JOURNAL   Blood Adv 5 (3), 700-710 (2021)
   PUBMED   33560378
  REMARK    GeneRIF: Adenylate kinase 2 expression and addiction in T-ALL.
REFERENCE   3  (residues 1 to 190)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 190)
  AUTHORS   Ichikawa S, Prockop S, Cunningham-Rundles C, Sifers T, Conner BR,
            Wu S, Karam R, Walsh MF and Fiala E.
  TITLE     Reticular dysgenesis caused by an intronic pathogenic variant in
            AK2
  JOURNAL   Cold Spring Harb Mol Case Stud 6 (3), a005017 (2020)
   PUBMED   32532877
  REMARK    GeneRIF: Reticular dysgenesis caused by an intronic pathogenic
            variant in AK2.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 190)
  AUTHORS   Noma T, Song S, Yoon YS, Tanaka S and Nakazawa A.
  TITLE     cDNA cloning and tissue-specific expression of the gene encoding
            human adenylate kinase isozyme 2
  JOURNAL   Biochim Biophys Acta 1395 (1), 34-39 (1998)
   PUBMED   9434148
REFERENCE   6  (residues 1 to 190)
  AUTHORS   Lee Y, Kim JW, Lee SM, Kim HJ, Lee KS, Park C and Choe IS.
  TITLE     Cloning and expression of human adenylate kinase 2 isozymes:
            differential expression of adenylate kinase 1 and 2 in human muscle
            tissues
  JOURNAL   J Biochem 123 (1), 47-54 (1998)
   PUBMED   9504408
REFERENCE   7  (residues 1 to 190)
  AUTHORS   Lee Y, Kim JW, Lee IA, Kang HB, Choe YK, Lee HG, Lim JS, Kim HJ,
            Park C and Choe IS.
  TITLE     Cloning and characterization of cDNA for human adenylate kinase 2A
  JOURNAL   Biochem Mol Biol Int 39 (4), 833-842 (1996)
   PUBMED   8843353
REFERENCE   8  (residues 1 to 190)
  AUTHORS   Hamada,M., Sumida,M., Okuda,H., Watanabe,T., Nojima,M. and
            Kuby,S.A.
  TITLE     Adenosine triphosphate-adenosine-5'-monophosphate
            phosphotransferase from normal human liver mitochondria. Isolation,
            chemical properties, and immunochemical comparison with Duchenne
            dystrophic serum aberrant adenylate kinase
  JOURNAL   J Biol Chem 257 (21), 13120-13128 (1982)
   PUBMED   6182143
REFERENCE   9  (residues 1 to 190)
  AUTHORS   Carritt,B., King,J. and Welch,H.M.
  TITLE     Gene order and localization of enzyme loci on the short arm of
            chromosome 1
  JOURNAL   Ann Hum Genet 46 (4), 329-335 (1982)
   PUBMED   6961883
REFERENCE   10 (residues 1 to 190)
  AUTHORS   Bruns,G.A. and Regina,V.M.
  TITLE     Adenylate kinase 2, a mitochondrial enzyme
  JOURNAL   Biochem Genet 15 (5-6), 477-486 (1977)
   PUBMED   195572
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC422465.1, AK307731.1 and
            AL020995.14.
            
            Summary: Adenylate kinases are involved in regulating the adenine
            nucleotide composition within a cell by catalyzing the reversible
            transfer of phosphate groups among adenine nucleotides. Three
            isozymes of adenylate kinase, namely 1, 2, and 3, have been
            identified in vertebrates; this gene encodes isozyme 2. Expression
            of these isozymes is tissue-specific and developmentally regulated.
            Isozyme 2 is localized in the mitochondrial intermembrane space and
            may play a role in apoptosis. Mutations in this gene are the cause
            of reticular dysgenesis. Alternate splicing results in multiple
            transcript variants. Pseudogenes of this gene are found on
            chromosomes 1 and 2.[provided by RefSeq, Nov 2010].
            
            Transcript Variant: This variant (7) lacks an alternate in-frame
            exon and differs in the 3' UTR and coding sequence compared to
            variant 1. The resulting isoform (g) lacks an alternate internal
            segment and has a shorter and distinct C-terminus compared to
            isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2955626.1,
                                           SRR14038192.3867834.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..190
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.1"
     Protein         1..190
                     /product="adenylate kinase 2, mitochondrial isoform g"
                     /EC_number="2.7.4.3"
                     /note="adenylate kinase isoenzyme 2, mitochondrial;
                     ATP-AMP transphosphorylase 2; ATP:AMP phosphotransferase;
                     adenylate monophosphate kinase; testis secretory
                     sperm-binding protein Li 220n"
                     /calculated_mol_wt=21095
     Region          17..187
                     /region_name="adk"
                     /note="adenylate kinase; Reviewed; PRK00279"
                     /db_xref="CDD:234711"
     CDS             1..190
                     /gene="AK2"
                     /gene_synonym="ADK2"
                     /coded_by="NM_001319142.3:56..628"
                     /note="isoform g is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS81294.1"
                     /db_xref="GeneID:204"
                     /db_xref="HGNC:HGNC:362"
                     /db_xref="MIM:103020"
ORIGIN      
        1 mapsvpaaep eypkgiravl lgppgagkgt qvsdemvvel ieknletplc kngflldgfp
       61 rtvrqaemld dlmekrkekl dsviefsipd sllirritgr lihpksgrsy heefnppkep
      121 mkdditgepl irrsddneka lkirlqayht qttplieyyr krgihsaida sqtpdvvfas
      181 ilaafskats
//
LOCUS       NP_001094810             153 aa            linear   PRI 30-DEC-2022
DEFINITION  putative adrenomedullin-5-like protein precursor [Homo sapiens].
ACCESSION   NP_001094810 XP_001134053 XP_001134289
VERSION     NP_001094810.1
DBSOURCE    REFSEQ: accession NM_001101340.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 153)
  AUTHORS   Takei Y, Hashimoto H, Inoue K, Osaki T, Yoshizawa-Kumagaye K,
            Tsunemi M, Watanabe TX, Ogoshi M, Minamino N and Ueta Y.
  TITLE     Central and peripheral cardiovascular actions of adrenomedullin 5,
            a novel member of the calcitonin gene-related peptide family, in
            mammals
  JOURNAL   J Endocrinol 197 (2), 391-400 (2008)
   PUBMED   18434369
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011495.8.
            On or before Sep 22, 2007 this sequence version replaced
            XP_001134053.1, XP_001134289.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC032764.1, AL359598.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000420022.4/ ENSP00000393631.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..153
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..153
                     /product="putative adrenomedullin-5-like protein
                     precursor"
                     /note="putative adrenomedullin-5-like protein;
                     adrenomedullin 5 homolog (pig)"
                     /calculated_mol_wt=14583
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1967
     mat_peptide     19..153
                     /product="Putative adrenomedullin-5-like protein.
                     /id=PRO_0000392551"
                     /note="propagated from UniProtKB/Swiss-Prot (C9JUS6.1)"
                     /calculated_mol_wt=14583
     CDS             1..153
                     /gene="ADM5"
                     /gene_synonym="AM5; C19orf76"
                     /coded_by="NM_001101340.2:245..706"
                     /db_xref="CCDS:CCDS46146.1"
                     /db_xref="GeneID:199800"
                     /db_xref="HGNC:HGNC:27293"
ORIGIN      
        1 mtihililll llafsaqgdl dtaarrgqhq vpqhrghvcy lgvcrthrla eiiywirclh
       61 qgalgegqpr apgplqlwap pvarggspar fpgfrpaarg laqcparwvt sgtarpllgf
      121 slpicmlell lhisspltpa petvfpspsp gcd
//
LOCUS       NP_001006685             117 aa            linear   PRI 30-DEC-2022
DEFINITION  transcription elongation factor A protein-like 8 [Homo sapiens].
ACCESSION   NP_001006685
VERSION     NP_001006685.1
DBSOURCE    REFSEQ: accession NM_001006684.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 117)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 117)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 117)
  AUTHORS   Winter EE and Ponting CP.
  TITLE     Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism
            sustained by gene conversion events
  JOURNAL   BMC Evol Biol 5, 54 (2005)
   PUBMED   16221301
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 117)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D,
            Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL,
            Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles
            ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman
            R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P,
            Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E,
            Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA,
            Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A,
            Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM,
            Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N,
            Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford
            EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J,
            Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E,
            Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke
            G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V,
            Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis
            C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H,
            Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ,
            Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL,
            Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert
            J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock
            R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD,
            Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M,
            Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob
            L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S,
            Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A,
            Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L,
            Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD,
            Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall
            J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G,
            Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N,
            Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R,
            Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM,
            Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S,
            Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C,
            Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC,
            Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor
            PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K,
            Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana
            D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A,
            Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G,
            Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL,
            Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D,
            Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ,
            Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M,
            Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T,
            Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   5  (residues 1 to 117)
  AUTHORS   Pillutla RC, Shimamoto A, Furuichi Y and Shatkin AJ.
  TITLE     Genomic structure and chromosomal localization of TCEAL1, a human
            gene encoding the nuclear phosphoprotein p21/SIIR
  JOURNAL   Genomics 56 (2), 217-220 (1999)
   PUBMED   10051408
  REMARK    GeneRIF: Characterizes TCEAL1, another member of the human TCEAL
            gene family.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU932815.1, BC035573.1 and
            AK026349.1.
            
            Summary: This gene encodes a member of the transcription elongation
            factor A (SII)-like (TCEAL) gene family. Members of this family
            contain TFA domains and may function as nuclear phosphoproteins
            that modulate transcription in a promoter context-dependent manner.
            Multiple family members are located on the X chromosome.
            Alternative splicing results in multiple transcript variants
            encoding a single isoform. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1 and 2 encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL833632.1, CD249613.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..117
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     Protein         1..117
                     /product="transcription elongation factor A protein-like
                     8"
                     /note="TCEA-like protein 8; transcription elongation
                     factor S-II protein-like 8; transcription elongation
                     factor A (SII)-like 8"
                     /calculated_mol_wt=13485
     Region          1..113
                     /region_name="BEX"
                     /note="Brain expressed X-linked like family; pfam04538"
                     /db_xref="CDD:398300"
     Region          1..75
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYN2.1)"
     CDS             1..117
                     /gene="TCEAL8"
                     /gene_synonym="WEX3"
                     /coded_by="NM_001006684.2:117..470"
                     /db_xref="CCDS:CCDS14504.1"
                     /db_xref="GeneID:90843"
                     /db_xref="HGNC:HGNC:28683"
ORIGIN      
        1 mqksceeneg kpqnmpkaee drpledvpqe aegnpqpsee gvsqeaegnp rggpnqpgqg
       61 fkedtpvrhl dpeemirgvd elerlreeir rvrnkfvmmh wkqrhsrsrp ypvcfrp
//
LOCUS       NP_001311179             561 aa            linear   PRI 31-DEC-2022
DEFINITION  zinc finger protein 37A isoform a [Homo sapiens].
ACCESSION   NP_001311179 XP_005252638
VERSION     NP_001311179.1
DBSOURCE    REFSEQ: accession NM_001324250.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 561)
  AUTHORS   Liu J, Huang Z, Chen HN, Qin S, Chen Y, Jiang J, Zhang Z, Luo M, Ye
            Q, Xie N, Zhou ZG, Wei Y, Xie K and Huang C.
  TITLE     ZNF37A promotes tumor metastasis through transcriptional control of
            THSD4/TGF-beta axis in colorectal cancer
  JOURNAL   Oncogene 40 (19), 3394-3407 (2021)
   PUBMED   33875786
  REMARK    GeneRIF: ZNF37A promotes tumor metastasis through transcriptional
            control of THSD4/TGF-beta axis in colorectal cancer.
REFERENCE   2  (residues 1 to 561)
  AUTHORS   Gauthier M, Marteyn A, Denis JA, Cailleret M, Giraud-Triboult K,
            Aubert S, Lecuyer C, Marie J, Furling D, Vernet R, Yanguas C,
            Baldeschi C, Pietu G, Peschanski M and Martinat C.
  TITLE     A defective Krab-domain zinc-finger transcription factor
            contributes to altered myogenesis in myotonic dystrophy type 1
  JOURNAL   Hum Mol Genet 22 (25), 5188-5198 (2013)
   PUBMED   23922231
  REMARK    GeneRIF: This suggests that the pathological molecular mechanisms
            linking ZNF37A and myogenesis may involve the signaling pathway
            that is known to promote myoblast recruitment during development
            and regeneration
REFERENCE   3  (residues 1 to 561)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   4  (residues 1 to 561)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD,
            Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird
            G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson
            T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan
            S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou
            T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore
            N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J,
            Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead
            SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T,
            Doucette-Stamm L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   5  (residues 1 to 561)
  AUTHORS   Guy J, Hearn T, Crosier M, Mudge J, Viggiano L, Koczan D, Thiesen
            HJ, Bailey JA, Horvath JE, Eichler EE, Earthrowl ME, Deloukas P,
            French L, Rogers J, Bentley D and Jackson MS.
  TITLE     Genomic sequence and transcriptional profile of the boundary
            between pericentromeric satellites and genes on human chromosome
            arm 10p
  JOURNAL   Genome Res 13 (2), 159-172 (2003)
   PUBMED   12566394
REFERENCE   6  (residues 1 to 561)
  AUTHORS   Tunnacliffe A, Liu L, Moore JK, Leversha MA, Jackson MS, Papi L,
            Ferguson-Smith MA, Thiesen HJ and Ponder BA.
  TITLE     Duplicated KOX zinc finger gene clusters flank the centromere of
            human chromosome 10: evidence for a pericentric inversion during
            primate evolution
  JOURNAL   Nucleic Acids Res 21 (6), 1409-1417 (1993)
   PUBMED   8464732
REFERENCE   7  (residues 1 to 561)
  AUTHORS   Huebner K, Druck T, Croce CM and Thiesen HJ.
  TITLE     Twenty-seven nonoverlapping zinc finger cDNAs from human T cells
            map to nine different chromosomes with apparent clustering
  JOURNAL   Am J Hum Genet 48 (4), 726-740 (1991)
   PUBMED   2014798
REFERENCE   8  (residues 1 to 561)
  AUTHORS   Thiesen HJ.
  TITLE     Multiple genes encoding zinc finger domains are expressed in human
            T cells
  JOURNAL   New Biol 2 (4), 363-374 (1990)
   PUBMED   2288909
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL117339.10.
            On Apr 28, 2016 this sequence version replaced XP_005252638.1.
            
            Sequence Note:.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.184553.1,
                                           SRR14038191.3180126.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000685332.1/ ENSP00000508865.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..561
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p11.1"
     Protein         1..561
                     /product="zinc finger protein 37A isoform a"
                     /note="zinc finger protein 37a (KOX 21); zinc finger
                     protein KOX21"
                     /calculated_mol_wt=65287
     Region          8..68
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          148..164
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          246..265
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <269..421
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          273..293
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          301..321
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(306,308,310,312..313,316..317,320,334,336,340..341,
                     344..345,348,362,364,366,368..369,372..373,376)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          329..349
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          357..377
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          385..405
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          413..433
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          426..448
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          441..461
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          469..489
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(474,476,478,480..481,484..485,488,502,504,508..509,
                     512..513,516,530,532,534,536..537,540..541,544)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          492..>552
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          497..517
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          525..545
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..561
                     /gene="ZNF37A"
                     /gene_synonym="KOX21; ZNF37"
                     /coded_by="NM_001324250.3:646..2331"
                     /note="isoform a is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS31183.1"
                     /db_xref="GeneID:7587"
                     /db_xref="HGNC:HGNC:13102"
                     /db_xref="MIM:616085"
ORIGIN      
        1 mitsqgsvsf rdvtvgftqe ewqhldpaqr tlyrdvmlen yshlvsvgyc ipkpevilkl
       61 ekgeepwile ekfpsqshle lintsrnysi mkfnefnkgg kcfcdekhei ihseeepsey
      121 nkngnsfwln edliwhqkik nweqsfeyne cgkafpensl flvhkrgytg qktckytehg
      181 ktcdmsffit hqqthprenh ygnecgenif eesillehqs vypfsqklnl tpiqrthsin
      241 niieynecgt ffseklvlhl qqrthtgekp yechecgktf tqksahtrhq rthtggkpye
      301 checgktfyk nsdlikhqri htgerpygch ecgksfseks tltqhqrtht gekpyechec
      361 gktfsfksvl tvhqkthtge kpyecyacgk aflrksdlik hqrihtgekp yecnecgksf
      421 sekstltkhl rthtgekpye ciqcgkffcy ysgftehlrr htgekpfgcn ecgktfrqks
      481 alivhqrthi rqkpygcnqc gksfcvkskl iahhrthtge kpyecnvcgk sfyvkskltv
      541 hqrihlgrnp invvnegnys g
//
LOCUS       NP_001376657             289 aa            linear   PRI 31-DEC-2022
DEFINITION  glyoxalase domain-containing protein 4 isoform 4 [Homo sapiens].
ACCESSION   NP_001376657
VERSION     NP_001376657.1
DBSOURCE    REFSEQ: accession NM_001389728.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 289)
  AUTHORS   Guo Z, Neilson LJ, Zhong H, Murray PS, Zanivan S and Zaidel-Bar R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 289)
  AUTHORS   Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA,
            Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J,
            Jugurnauth-Little S, Dadaev T, Neal DE, Hamdy FC, Donovan JL, Muir
            K, Giles GG, Severi G, Wiklund F, Gronberg H, Haiman CA, Schumacher
            F, Henderson BE, Le Marchand L, Lindstrom S, Kraft P, Hunter DJ,
            Gapstur S, Chanock SJ, Berndt SI, Albanes D, Andriole G, Schleutker
            J, Weischer M, Canzian F, Riboli E, Key TJ, Travis RC, Campa D,
            Ingles SA, John EM, Hayes RB, Pharoah PD, Pashayan N, Khaw KT,
            Stanford JL, Ostrander EA, Signorello LB, Thibodeau SN, Schaid D,
            Maier C, Vogel W, Kibel AS, Cybulski C, Lubinski J, Cannon-Albright
            L, Brenner H, Park JY, Kaneva R, Batra J, Spurdle AB, Clements JA,
            Teixeira MR, Dicks E, Lee A, Dunning AM, Baynes C, Conroy D,
            Maranian MJ, Ahmed S, Govindasami K, Guy M, Wilkinson RA, Sawyer
            EJ, Morgan A, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker
            CC, Van As NJ, Woodhouse CJ, Thompson A, Dudderidge T, Ogden C,
            Cooper CS, Lophatananon A, Cox A, Southey MC, Hopper JL, English
            DR, Aly M, Adolfsson J, Xu J, Zheng SL, Yeager M, Kaaks R, Diver
            WR, Gaudet MM, Stern MC, Corral R, Joshi AD, Shahabi A, Wahlfors T,
            Tammela TL, Auvinen A, Virtamo J, Klarskov P, Nordestgaard BG,
            Roder MA, Nielsen SF, Bojesen SE, Siddiq A, Fitzgerald LM, Kolb S,
            Kwon EM, Karyadi DM, Blot WJ, Zheng W, Cai Q, McDonnell SK,
            Rinckleb AE, Drake B, Colditz G, Wokolorczyk D, Stephenson RA,
            Teerlink C, Muller H, Rothenbacher D, Sellers TA, Lin HY, Slavov C,
            Mitev V, Lose F, Srinivasan S, Maia S, Paulo P, Lange E, Cooney KA,
            Antoniou AC, Vincent D, Bacot F, Tessier DC, Kote-Jarai Z and
            Easton DF.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391e3912 (2013)
   PUBMED   23535732
REFERENCE   3  (residues 1 to 289)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 289)
  AUTHORS   Zhang HT, Yan ZQ, Hu XB, Yang SL and Gong Y.
  TITLE     Interaction of C17orf25 with ADP-ribose pyrophosphatase NUDT9
            detected via yeast two-hybrid method
  JOURNAL   Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai) 35 (8),
            747-751 (2003)
   PUBMED   12897971
REFERENCE   5  (residues 1 to 289)
  AUTHORS   Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A,
            Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune
            S, Wynshaw-Boris A, Dobyns WB and Ledbetter DH.
  TITLE     Refinement of a 400-kb critical region allows genotypic
            differentiation between isolated lissencephaly, Miller-Dieker
            syndrome, and other phenotypes secondary to deletions of 17p13.3
  JOURNAL   Am J Hum Genet 72 (4), 918-930 (2003)
   PUBMED   12621583
REFERENCE   6  (residues 1 to 289)
  AUTHORS   Guo JY, Xu J, Mao Q, Fu LL, Gu JR and De Zhu J.
  TITLE     The promoter analysis of the human C17orf25 gene, a novel
            chromosome 17p13.3 gene
  JOURNAL   Cell Res 12 (5-6), 339-352 (2002)
   PUBMED   12528892
REFERENCE   7  (residues 1 to 289)
  AUTHORS   Qin WX, Wan F, Sun FY, Zhang PP, Han LW, Huang Y, Jiang HQ, Zhao
            XT, He M, Ye Y, Cong WM, Wu MC, Zhang LS, Yang NW and Gu JR.
  TITLE     Cloning and characterization of a novel gene (C17orf25) from the
            deletion region on chromosome 17p13.3 in hepatocelular carcinoma
  JOURNAL   Cell Res 11 (3), 209-216 (2001)
   PUBMED   11642406
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087392.10.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296584.1, SRR14038195.1390441.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..289
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     Protein         1..289
                     /product="glyoxalase domain-containing protein 4 isoform
                     4"
                     /note="glyoxalase domain-containing protein 4"
                     /calculated_mol_wt=31916
     Region          <39..121
                     /region_name="VOC"
                     /note="vicinal oxygen chelate (VOC) family; cl14632"
                     /db_xref="CDD:449338"
     Region          131..246
                     /region_name="GLOD4_C"
                     /note="C-terminal domain of human glyoxalase
                     domain-containing protein 4 and similar proteins; cd16357"
                     /db_xref="CDD:319964"
     Site            order(131,135,164,176,178,192,235,243,245)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:319964"
     CDS             1..289
                     /gene="GLOD4"
                     /gene_synonym="C17orf25; CGI-150; HC6; HC71"
                     /coded_by="NM_001389728.1:307..1176"
                     /note="isoform 4 is encoded by transcript variant 9"
                     /db_xref="GeneID:51031"
                     /db_xref="HGNC:HGNC:14111"
ORIGIN      
        1 mrnlkkaakl pvmgmipcfl ksplgsdytr itedsfskpy dgkwsktmvg fgpeddhfva
       61 eltynygvgd yklgndfmgi tlassqavsn arklewplte vaegvfetea pggykfylqn
      121 rslpqsdpvl kvtlavsdlq kslnywcnll gmkiyekdee kqrallgyad nqcklelqgv
      181 kggvdhaaaf griafscpqk elpdledlmk renqkiltpl vsldtpgkat vqvviladpd
      241 gheicfvgde afrelskmdp egskllddam aadksdewfa khnkpkasg
//
LOCUS       NP_443092                604 aa            linear   PRI 31-DEC-2022
DEFINITION  zinc finger protein 300 isoform 2 [Homo sapiens].
ACCESSION   NP_443092
VERSION     NP_443092.1
DBSOURCE    REFSEQ: accession NM_052860.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 604)
  AUTHORS   Ding L, Li L and Tang Z.
  TITLE     Cisplatin resistance and malignant behaviors of lung cancer cells
            are promoted by circ_0002360 via targeting miR-6751-3p to regulate
            the expression of ZNF300
  JOURNAL   Thorac Cancer 13 (7), 986-996 (2022)
   PUBMED   35166026
  REMARK    GeneRIF: Cisplatin resistance and malignant behaviors of lung
            cancer cells are promoted by circ_0002360 via targeting miR-6751-3p
            to regulate the expression of ZNF300.
REFERENCE   2  (residues 1 to 604)
  AUTHORS   Yu S, Ao Z, Wu Y, Song L, Zhang P, Li X, Liu M, Qian P, Zhang R, Li
            X, Chen Y, Wang X, Wang X, Ruan X, Qian G and Ji F.
  TITLE     ZNF300 promotes chemoresistance and aggressive behaviour in
            non-small-cell lung cancer
  JOURNAL   Cell Prolif 53 (11), e12924 (2020)
   PUBMED   33078469
  REMARK    GeneRIF: ZNF300 promotes chemoresistance and aggressive behaviour
            in non-small-cell lung cancer.
REFERENCE   3  (residues 1 to 604)
  AUTHORS   Yan FJ, Wang YJ, Yan SR, Lu J and Zheng YL.
  TITLE     ZNF300 stimulates fatty acid oxidation and alleviates
            hepatosteatosis through regulating PPARalpha
  JOURNAL   Biochem J 476 (2), 385-404 (2019)
   PUBMED   30568000
  REMARK    GeneRIF: These results suggested that ZNF300 plays an important
            role in hepatic lipid metabolism via PPARalpha promoting fatty acid
            oxidation and this effect might be blocked by DNMT3a-mediated
            methylation of ZNF300.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 604)
  AUTHORS   Gloss B, Moran-Jones K, Lin V, Gonzalez M, Scurry J, Hacker NF,
            Sutherland RL, Clark SJ and Samimi G.
  TITLE     ZNF300P1 encodes a lincRNA that regulates cell polarity and is
            epigenetically silenced in type II epithelial ovarian cancer
  JOURNAL   Mol Cancer 13, 3 (2014)
   PUBMED   24393131
  REMARK    GeneRIF: Our findings further support ZNF300P1 as frequently
            methylated in ovarian cancer and reveal a novel function for
            ZNF300P1 lincRNA expression
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 604)
  AUTHORS   Wang W, Cai J, Wu Y, Hu L, Chen Z, Hu J, Chen Z, Li W, Guo M and
            Huang Z.
  TITLE     Novel activity of KRAB domain that functions to reinforce nuclear
            localization of KRAB-containing zinc finger proteins by interacting
            with KAP1
  JOURNAL   Cell Mol Life Sci 70 (20), 3947-3958 (2013)
   PUBMED   23665872
REFERENCE   6  (residues 1 to 604)
  AUTHORS   Qiu H, Xue L, Gao L, Shao H, Wang D, Guo M and Li W.
  TITLE     Identification of the DNA binding element of the human ZNF300
            protein
  JOURNAL   Cell Mol Biol Lett 13 (3), 391-403 (2008)
   PUBMED   18350257
  REMARK    GeneRIF: Results show that the ZNF300 gene encodes a 68-kDa nuclear
            protein that binds DNA in a sequence-specific manner.
REFERENCE   7  (residues 1 to 604)
  AUTHORS   Cao Y, Li JX, Ji CN, Xu XW and Wu M.
  TITLE     Molecular cloning and characterization of a novel splice variant of
            human ZNF300 gene, which expressed highly in testis
  JOURNAL   DNA Seq 18 (4), 312-315 (2007)
   PUBMED   17541838
  REMARK    GeneRIF: ZNF-300 and novel splice variant ZNF300-B are both
            expressed highly in human testis.
REFERENCE   8  (residues 1 to 604)
  CONSRTM   Wellcome Trust Case Control Consortium
  TITLE     Genome-wide association study of 14,000 cases of seven common
            diseases and 3,000 shared controls
  JOURNAL   Nature 447 (7145), 661-678 (2007)
   PUBMED   17554300
REFERENCE   9  (residues 1 to 604)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   10 (residues 1 to 604)
  AUTHORS   Gou D, Wang J, Gao L, Sun Y, Peng X, Huang J and Li W.
  TITLE     Identification and functional analysis of a novel human KRAB/C2H2
            zinc finger gene ZNF300
  JOURNAL   Biochim Biophys Acta 1676 (2), 203-209 (2004)
   PUBMED   14746915
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010441.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a C2H2-type zinc
            finger DNA binding protein and likely transcriptional regulator.
            The function of this protein is not yet known. Three transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Mar 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK096465.1, AF395541.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161674, SAMEA2467146
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274599.10/ ENSP00000274599.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..604
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.1"
     Protein         1..604
                     /product="zinc finger protein 300 isoform 2"
                     /note="kruppel-like zinc finger protein"
                     /calculated_mol_wt=68612
     Region          8..68
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          203..234
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RE9.1)"
     Region          244..263
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          271..291
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          294..>590
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          299..319
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(304,306,308,310..311,314..315,318,332,334,338..339,
                     342..343,346,360,362,364,366..367,370..371,374)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          327..347
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          355..375
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          383..403
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          411..431
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          439..459
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          467..487
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(472,474,476,478..479,482..483,486,500,502,506..507,
                     510..511,514,528,530,532,534..535,538..539,542)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          495..515
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          523..543
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          551..571
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          579..599
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..604
                     /gene="ZNF300"
                     /coded_by="NM_052860.4:419..2233"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS4311.2"
                     /db_xref="GeneID:91975"
                     /db_xref="HGNC:HGNC:13091"
                     /db_xref="MIM:612429"
ORIGIN      
        1 mmksqglvsf kdvavdftqe ewqqldpsqr tlyrdvmlen yshlvsmgyp vskpdviskl
       61 eqgeepwiik gdisnwiypd eyqadgrqdr ksnlhnsqsc ilgtvsfhhk ilkgvtrdgs
      121 lcsilkvcqg dgqlqrflen qdklfrqvtf vnsktvteas ghkynplgki fqecietdis
      181 iqrfhkydaf kknlkpnidl pscyksnsrk kpdqsfgggk sssqsepnsn lekihngvip
      241 fddnqcgnvf rntqsliqyq nvetkekscv cvtcgkafak ksqlivhqri htgkkpydcg
      301 acgkafsekf hlvvhqrtht gekpydcsec gkafsqkssl iihqrvhtge kpyecsecgk
      361 afsqksplii hqrihtgekp yecrecgkaf sqksqliihh rahtgekpye ctecgkafce
      421 kshliihkri htgekpykca qceeafsrkt elithqlvht gekpyectec gktfsrksql
      481 iihqrthtge kpykcsecgk afcqkshlig hqrihtgekp yictecgkaf sqkshlpghq
      541 rihtgekpyi caecgkafsq ksdlvlhqri htgerpyqca icgkafiqks qltvhqriht
      601 vvks
//
LOCUS       NP_001374989             567 aa            linear   PRI 31-DEC-2022
DEFINITION  replication initiator 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001374989 XP_016867570
VERSION     NP_001374989.1
DBSOURCE    REFSEQ: accession NM_001388060.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 567)
  AUTHORS   Sun Y, Sun W, Hua H, Zhang J, Yu Q, Wang J, Liu X and Dong A.
  TITLE     Overexpression of miR-127 Predicts Poor Prognosis and Contributes
            to the Progression of Papillary Thyroid Cancer by Targeting REPIN1
  JOURNAL   Horm Metab Res 53 (3), 197-203 (2021)
   PUBMED   33339069
  REMARK    GeneRIF: Overexpression of miR-127 Predicts Poor Prognosis and
            Contributes to the Progression of Papillary Thyroid Cancer by
            Targeting REPIN1.
REFERENCE   2  (residues 1 to 567)
  AUTHORS   Abshagen K, Berger C, Dietrich A, Schutz T, Wittekind C, Stumvoll
            M, Bluher M and Kloting N.
  TITLE     A Human REPIN1 Gene Variant: Genetic Risk Factor for the
            Development of Nonalcoholic Fatty Liver Disease
  JOURNAL   Clin Transl Gastroenterol 11 (1), e00114 (2020)
   PUBMED   31922994
  REMARK    GeneRIF: A Human REPIN1 Gene Variant: Genetic Risk Factor for the
            Development of Nonalcoholic Fatty Liver Disease.
REFERENCE   3  (residues 1 to 567)
  AUTHORS   Kruger J, Berger C, Weidle K, Schleinitz D, Tonjes A, Stumvoll M,
            Bluher M, Kovacs P and Kloting N.
  TITLE     Metabolic effects of genetic variation in the human REPIN1 gene
  JOURNAL   Int J Obes (Lond) 43 (4), 821-831 (2019)
   PUBMED   29915365
  REMARK    GeneRIF: data suggest that genetic variation in human REPIN1 plays
            a role in glucose and lipid metabolism by differentially affecting
            the expression of REPIN1 target genes including glucose and fatty
            acid transporters
REFERENCE   4  (residues 1 to 567)
  AUTHORS   Wang Y and Lin Y.
  TITLE     Hsa-mir-127 impairs survival of patients with glioma and promotes
            proliferation, migration and invasion of cancerous cells by
            modulating replication initiator 1
  JOURNAL   Neuroreport 29 (14), 1166-1173 (2018)
   PUBMED   29979259
  REMARK    GeneRIF: Increased expression of hsa-mir-127 and decreased
            expression of REPIN1 were both associated with poor overall
            survival
REFERENCE   5  (residues 1 to 567)
  AUTHORS   Meng Y, Wang L, Xu J and Zhang Q.
  TITLE     AP4 positively regulates LAPTM4B to promote hepatocellular
            carcinoma growth and metastasis, while reducing chemotherapy
            sensitivity
  JOURNAL   Mol Oncol 12 (3), 373-390 (2018)
   PUBMED   29337428
  REMARK    GeneRIF: AP4 and LAPTM4B are highly coexpressed in hepatocellular
            carcinoma tissues, and their coexpression may be a marker of poor
            prognosis.
REFERENCE   6  (residues 1 to 567)
  AUTHORS   Montigny WJ, Houchens CR, Illenye S, Gilbert J, Coonrod E, Chang YC
            and Heintz NH.
  TITLE     Condensation by DNA looping facilitates transfer of large DNA
            molecules into mammalian cells
  JOURNAL   Nucleic Acids Res 29 (9), 1982-1988 (2001)
   PUBMED   11328883
REFERENCE   7  (residues 1 to 567)
  AUTHORS   Houchens CR, Montigny W, Zeltser L, Dailey L, Gilbert JM and Heintz
            NH.
  TITLE     The dhfr oribeta-binding protein RIP60 contains 15 zinc fingers:
            DNA binding and looping by the central three fingers and an
            associated proline-rich region
  JOURNAL   Nucleic Acids Res 28 (2), 570-581 (2000)
   PUBMED   10606657
REFERENCE   8  (residues 1 to 567)
  AUTHORS   Mastrangelo IA, Held PG, Dailey L, Wall JS, Hough PV, Heintz N and
            Heintz NH.
  TITLE     RIP60 dimers and multiples of dimers assemble link structures at an
            origin of bidirectional replication in the dihydrofolate reductase
            amplicon of Chinese hamster ovary cells
  JOURNAL   J Mol Biol 232 (3), 766-778 (1993)
   PUBMED   8355269
REFERENCE   9  (residues 1 to 567)
  AUTHORS   Caddle MS, Dailey L and Heintz NH.
  TITLE     RIP60, a mammalian origin-binding protein, enhances DNA bending
            near the dihydrofolate reductase origin of replication
  JOURNAL   Mol Cell Biol 10 (12), 6236-6243 (1990)
   PUBMED   2247056
REFERENCE   10 (residues 1 to 567)
  AUTHORS   Dailey L, Caddle MS, Heintz N and Heintz NH.
  TITLE     Purification of RIP60 and RIP100, mammalian proteins with
            origin-specific DNA-binding and ATP-dependent DNA helicase
            activities
  JOURNAL   Mol Cell Biol 10 (12), 6225-6235 (1990)
   PUBMED   2174103
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005586.2.
            On Oct 19, 2020 this sequence version replaced XP_016867570.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.1995044.1,
                                           SRR11853558.22689.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..567
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     Protein         1..567
                     /product="replication initiator 1 isoform 1"
                     /note="replication initiation region protein (60kD); zinc
                     finger protein 464 (RIP60); H_DJ0584D14.12; zinc finger
                     protein AP4; ATT-binding protein; DHFR oribeta-binding
                     protein RIP60; 60 kDa origin-specific DNA-binding protein;
                     60 kDa replication initiation region protein"
                     /calculated_mol_wt=63444
     Region          17..52
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Site            27
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Site            33
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Region          59..79
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          87..107
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          118..138
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <138..312
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          147..168
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          179..199
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          233..540
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          238..258
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(243,245,247,249..250,253..254,257,271,273,277..278,
                     281..282,285,299,301,303,305..306,309..310,313)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          266..286
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            276
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Region          294..314
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          305..372
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Region          377..397
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          405..425
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          433..453
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          461..481
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(466,468,470,472..473,476..477,480,494,496,500..501,
                     504..505,508,522,524,526,528..529,532..533,536)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          489..509
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          517..537
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          545..565
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..567
                     /gene="REPIN1"
                     /gene_synonym="AP4; RIP60; Zfp464; ZNF464"
                     /coded_by="NM_001388060.1:919..2622"
                     /note="isoform 1 is encoded by transcript variant 31"
                     /db_xref="CCDS:CCDS43677.1"
                     /db_xref="GeneID:29803"
                     /db_xref="HGNC:HGNC:17922"
                     /db_xref="MIM:619039"
ORIGIN      
        1 mlerrcrgpl amglaqprll sgpsqespqt lgkesrglrq qgtsvaqsga qapgrahrca
       61 hcrrhfpgwv alwlhtrrcq arlplpcpec grrfrhapfl alhrqvhaaa tpdlgfachl
      121 cgqsfrgwva lvlhlrahsa akrpiacpkc errfwrrkql rahlrrchpp apearpficg
      181 ncgrsfaqwd qlvahkrvhv aealeeaaak algprprgrp avtaprpggd avdrpfqcac
      241 cgkrfrhkpn liahrrvhtg erphqcpecg krftnkpylt shrrihtgek pypckecgrr
      301 frhkpnllsh skihkrsegs aqaapgpgsp qlpagpqesa aeptpavplk paqepppgap
      361 pehpqdpiea ppslyscddc grsfrlerfl rahqrqhtge rpftcaecgk nfgkkthlva
      421 hsrvhsgerp faceecgrrf sqgshlaahr rdhapdrpfv cpdcgkafrh kpylaahrri
      481 htgekpyvcp dcgkafsqks nlvshrriht gerpyacpdc drsfsqksnl ithrkshird
      541 gafccaicgq tfddeerlla hqkkhdv
//
LOCUS       NP_001381148             212 aa            linear   PRI 31-DEC-2022
DEFINITION  ropporin-1A isoform a [Homo sapiens].
ACCESSION   NP_001381148
VERSION     NP_001381148.1
DBSOURCE    REFSEQ: accession NM_001394219.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 212)
  AUTHORS   Liu Q, Huang X, Li Q, He L, Li S, Chen X, Ouyang Y, Wang X and Lin
            C.
  TITLE     Rhophilin-associated tail protein 1 promotes migration and
            metastasis in triple negative breast cancer via activation of RhoA
  JOURNAL   FASEB J 34 (8), 9959-9971 (2020)
   PUBMED   32427399
  REMARK    GeneRIF: Rhophilin-associated tail protein 1 promotes migration and
            metastasis in triple negative breast cancer via activation of RhoA.
REFERENCE   2  (residues 1 to 212)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 212)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 212)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (residues 1 to 212)
  AUTHORS   Pelloni M, Paoli D, Majoli M, Pallotti F, Carlini T, Lenzi A and
            Lombardo F.
  TITLE     Molecular study of human sperm RNA: Ropporin and CABYR in
            asthenozoospermia
  JOURNAL   J Endocrinol Invest 41 (7), 781-787 (2018)
   PUBMED   29247344
  REMARK    GeneRIF: There is downregulation of both ROPN1 and CABYR in
            asthenozoospermic samples and importantly, a positive correlation
            between the expression of the two genes, suggesting that ROPN1 and
            CABYR co-expression is a prerequisite for normal flagellar function
            and sperm motility.
REFERENCE   6  (residues 1 to 212)
  AUTHORS   Newell AE, Fiedler SE, Ruan JM, Pan J, Wang PJ, Deininger J,
            Corless CL and Carr DW.
  TITLE     Protein kinase A RII-like (R2D2) proteins exhibit differential
            localization and AKAP interaction
  JOURNAL   Cell Motil Cytoskeleton 65 (7), 539-552 (2008)
   PUBMED   18421703
REFERENCE   7  (residues 1 to 212)
  AUTHORS   Li Z, Li W, Meklat F, Wang Z, Zhang J, Zhang Y and Lim SH.
  TITLE     A yeast two-hybrid system using Sp17 identified Ropporin as a novel
            cancer-testis antigen in hematologic malignancies
  JOURNAL   Int J Cancer 121 (7), 1507-1511 (2007)
   PUBMED   17551920
  REMARK    GeneRIF: Ropporin gene expression in tumor cells is associated with
            the presence of high titer IgG antibodies against Ropporin,
            suggesting the in vivo translation of the mRNA into protein and the
            immunogenicity of the protein to the autologous hosts.
REFERENCE   8  (residues 1 to 212)
  AUTHORS   Carr DW, Fujita A, Stentz CL, Liberty GA, Olson GE and Narumiya S.
  TITLE     Identification of sperm-specific proteins that interact with
            A-kinase anchoring proteins in a manner similar to the type II
            regulatory subunit of PKA
  JOURNAL   J Biol Chem 276 (20), 17332-17338 (2001)
   PUBMED   11278869
REFERENCE   9  (residues 1 to 212)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N,
            Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar
            M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   10 (residues 1 to 212)
  AUTHORS   Fujita A, Nakamura K, Kato T, Watanabe N, Ishizaki T, Kimura K,
            Mizoguchi A and Narumiya S.
  TITLE     Ropporin, a sperm-specific binding protein of rhophilin, that is
            localized in the fibrous sheath of sperm flagella
  JOURNAL   J Cell Sci 113 (Pt 1), 103-112 (2000)
   PUBMED   10591629
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC117381.5.
            
            Summary: The protein encoded by this gene is found in the fibrous
            sheath of spermatazoa, where it interacts with rhophilin, a Rho
            GTPase binding protein. The encoded protein also can bind an
            A-kinase anchoring protein (AKAP110) and a calcium-binding tyrosine
            phosphorylation-regulated protein (CABYR). This protein may be
            involved in sperm motility and has been shown to be a cancer-testis
            antigen in hematologic malignancies. Several transcript variants,
            some protein-coding and some non-protein coding, have been found
            for this gene. [provided by RefSeq, Dec 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.65481.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA1968832 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..212
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.1"
     Protein         1..212
                     /product="ropporin-1A isoform a"
                     /note="ropporin, rhophilin associated protein 1;
                     cancer/testis antigen 91; outer dense fiber of sperm tails
                     6; ropporin-1A; rhophilin-associated protein 1A; testis
                     secretory sperm-binding protein Li 239w"
                     /calculated_mol_wt=23762
     Region          5..47
                     /region_name="DD_ROP"
                     /note="dimerization/docking (D/D) domain found in
                     ropporins; cd23019"
                     /db_xref="CDD:438555"
     Site            order(8..9,11,13..14,17..18,21..22,25..26,29,33..35,
                     37..38,41..42,44..45)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:438555"
     Site            order(10,14..15,18..19,22..23,26..27)
                     /site_type="other"
                     /note="putative AKAP interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:438555"
     Site            56
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q4KLL5; propagated from
                     UniProtKB/Swiss-Prot (Q9HAT0.2)"
     Region          209..212
                     /region_name="Interaction with RHPN1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HAT0.2)"
     CDS             1..212
                     /gene="ROPN1"
                     /gene_synonym="CT91; ODF6; RHPNAP1; ROPN1A; ropporin"
                     /coded_by="NM_001394219.1:375..1013"
                     /note="isoform a is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS3026.1"
                     /db_xref="GeneID:54763"
                     /db_xref="HGNC:HGNC:17692"
                     /db_xref="MIM:611757"
ORIGIN      
        1 maqtdkptci ppelpkmlke fakaairvqp qdliqwaady fealsrgetp pvrerserva
       61 lcnraeltpe llkilhsqva grliiraeel aqmwkvvnlp tdlfnsvmnv grfteeiewl
      121 kflalacsal gvtitktlki vcevlscdhn ggspripfst fqflytyiak vdgeisashv
      181 srmlnymeqe vigpdgiitv ndftqnprvq le
//
LOCUS       NP_001400114            1843 aa            linear   PRI 01-JAN-2023
DEFINITION  brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform
            2 [Homo sapiens].
ACCESSION   NP_001400114 XP_005251192
VERSION     NP_001400114.1
DBSOURCE    REFSEQ: accession NM_001413185.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1843)
  AUTHORS   Jiang L and Wang X.
  TITLE     The miR-133b/brefeldin A-inhibited guanine nucleotide-exchange
            protein 1 (ARFGEF1) axis represses proliferation, invasion, and
            migration in cervical cancer cells
  JOURNAL   Bioengineered 13 (2), 3323-3332 (2022)
   PUBMED   35048795
  REMARK    GeneRIF: The miR-133b/brefeldin A-inhibited guanine
            nucleotide-exchange protein 1 (ARFGEF1) axis represses
            proliferation, invasion, and migration in cervical cancer cells.
REFERENCE   2  (residues 1 to 1843)
  AUTHORS   Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S,
            Isidor B, Cogne B, Conrad S, Tenconi R, Iascone M, Sorlin A,
            Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi
            NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA,
            Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them
            FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N,
            Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin
            J, Faivre L and Vitobello A.
  TITLE     Haploinsufficiency of ARFGEF1 is associated with developmental
            delay, intellectual disability, and epilepsy with variable
            expressivity
  JOURNAL   Genet Med 23 (10), 1901-1911 (2021)
   PUBMED   34113008
  REMARK    GeneRIF: Haploinsufficiency of ARFGEF1 is associated with
            developmental delay, intellectual disability, and epilepsy with
            variable expressivity.
REFERENCE   3  (residues 1 to 1843)
  AUTHORS   Liu L, Zhang S, Wang Y, Bao W, Zhou Y, Dang W, Wang X, Li H, Cao X,
            You Y, Fang H and Shen X.
  TITLE     BIG1 controls macrophage pro-inflammatory responses through
            ARF3-mediated PI(4,5)P2 synthesis
  JOURNAL   Cell Death Dis 11 (5), 374 (2020)
   PUBMED   32415087
  REMARK    GeneRIF: BIG1 controls macrophage pro-inflammatory responses
            through ARF3-mediated PI(4,5)P2 synthesis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1843)
  AUTHORS   Lu FI, Wang YT, Wang YS, Wu CY and Li CC.
  TITLE     Involvement of BIG1 and BIG2 in regulating VEGF expression and
            angiogenesis
  JOURNAL   FASEB J 33 (9), 9959-9973 (2019)
   PUBMED   31199673
  REMARK    GeneRIF: BIG1 and BIG2 knockdown significantly decreased the levels
            of VEGF mRNA and protein in glioblastoma U251 cells and HUVECs.
            Furthermore, depletion of BIG1 and BIG2 inhibited HUVEC
            angiogenesis by diminishing cell migration.
REFERENCE   5  (residues 1 to 1843)
  AUTHORS   Noguchi T, Tsuchida M, Kogue Y, Spadini C, Hirata Y and Matsuzawa
            A.
  TITLE     Brefeldin A-Inhibited Guanine Nucleotide-Exchange Factor 1 (BIG1)
            Governs the Recruitment of Tumor Necrosis Factor
            Receptor-Associated Factor 2 (TRAF2) to Tumor Necrosis Factor
            Receptor 1 (TNFR1) Signaling Complexes
  JOURNAL   Int J Mol Sci 17 (11), 1869 (2016)
   PUBMED   27834853
  REMARK    GeneRIF: The data demonstrate a novel and unexpected function of
            BIG1 that regulates TNFR1 signaling by targeting TRAF2.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1843)
  AUTHORS   Kamei Y, Takeda Y, Teramoto K, Tsutsumi O, Taketani Y and Watanabe
            K.
  TITLE     Human NB-2 of the contactin subgroup molecules: chromosomal
            localization of the gene (CNTN5) and distinct expression pattern
            from other subgroup members
  JOURNAL   Genomics 69 (1), 113-119 (2000)
   PUBMED   11013081
REFERENCE   7  (residues 1 to 1843)
  AUTHORS   Yamaji R, Adamik R, Takeda K, Togawa A, Pacheco-Rodriguez G,
            Ferrans VJ, Moss J and Vaughan M.
  TITLE     Identification and localization of two brefeldin A-inhibited
            guanine nucleotide-exchange proteins for ADP-ribosylation factors
            in a macromolecular complex
  JOURNAL   Proc Natl Acad Sci U S A 97 (6), 2567-2572 (2000)
   PUBMED   10716990
REFERENCE   8  (residues 1 to 1843)
  AUTHORS   Mansour SJ, Skaug J, Zhao XH, Giordano J, Scherer SW and Melancon
            P.
  TITLE     p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange
            protein whose Sec7 domain is targeted by the drug brefeldin A
  JOURNAL   Proc Natl Acad Sci U S A 96 (14), 7968-7973 (1999)
   PUBMED   10393931
REFERENCE   9  (residues 1 to 1843)
  AUTHORS   Togawa A, Morinaga N, Ogasawara M, Moss J and Vaughan M.
  TITLE     Purification and cloning of a brefeldin A-inhibited guanine
            nucleotide-exchange protein for ADP-ribosylation factors
  JOURNAL   J Biol Chem 274 (18), 12308-12315 (1999)
   PUBMED   10212200
REFERENCE   10 (residues 1 to 1843)
  AUTHORS   Morinaga N, Tsai SC, Moss J and Vaughan M.
  TITLE     Isolation of a brefeldin A-inhibited guanine nucleotide-exchange
            protein for ADP ribosylation factor (ARF) 1 and ARF3 that contains
            a Sec7-like domain
  JOURNAL   Proc Natl Acad Sci U S A 93 (23), 12856-12860 (1996)
   PUBMED   8917509
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021321.11 and AC087359.13.
            On Oct 27, 2022 this sequence version replaced XP_005251192.1.
            
            Summary: ADP-ribosylation factors (ARFs) play an important role in
            intracellular vesicular trafficking. The protein encoded by this
            gene is involved in the activation of ARFs by accelerating
            replacement of bound GDP with GTP. It contains a Sec7 domain, which
            may be responsible for guanine-nucleotide exchange activity and
            also brefeldin A inhibition. [provided by RefSeq, Aug 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.29095.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1843
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.2"
     Protein         1..1843
                     /product="brefeldin A-inhibited guanine
                     nucleotide-exchange protein 1 isoform 2"
                     /note="brefeldin A-inhibited guanine nucleotide-exchange
                     protein 1; p200 ARF guanine nucleotide exchange factor;
                     ADP-ribosylation factor guanine nucleotide-exchange factor
                     1 (brefeldin A-inhibited)"
                     /calculated_mol_wt=207983
     Region          2..224
                     /region_name="DCB, DCB:DCB domain and DCB:HUS domain
                     interaction"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Region          15..1760
                     /region_name="PLN03076"
                     /note="ARF guanine nucleotide exchange factor (ARF-GEF);
                     Provisional"
                     /db_xref="CDD:215560"
     Region          46..65
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            52
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Region          216..248
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Region          264..302
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            286
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:G3X9K3; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            289
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:G3X9K3; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            290
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:D4A631; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Region          378..413
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            397
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            410
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Region          557..577
                     /region_name="HUS, DCB:HUS domain interaction"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Region          711..715
                     /region_name="Nuclear localization signal (NLS)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            1079
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            1560
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:D4A631; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     Site            1563
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9Y6D6.2)"
     CDS             1..1843
                     /gene="ARFGEF1"
                     /gene_synonym="ARFGEP1; BIG1; DEDISB; P200"
                     /coded_by="NM_001413185.1:322..5853"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="GeneID:10565"
                     /db_xref="HGNC:HGNC:15772"
                     /db_xref="MIM:604141"
ORIGIN      
        1 myegkktknm fltralekil adkevkkahh sqlrkaceva leeikaetek qspphgeaka
       61 gsstlppvks ktnfieadky flpfelacqs kcprivstsl dclqkliayg hltgnapdst
      121 tpgkklidri ieticgcfqg pqtdegvqlq iikalltavt sqhieihegt vlqavrtcyn
      181 iylasknlin qttakatltq mlnvifarme nqalqeakqm ekerhrqhhh llqspvshhe
      241 pespqlrylp pqtvdhisqe hegdldlhtn dvdkslqddt epengsdiss aeneqteadq
      301 ataaetlskn evlydgenhd ceekpqdivq niveemvniv vgdmgegtti nasadgnigt
      361 iedgsdseni qangipgtpi svaytpslpd drlsvssndt qesgnssgps pgakfshilq
      421 kdaflvfrsl cklsmkplsd gppdpkshel rskilslqll lsilqnagpi frtnemfina
      481 ikqylcvals kngvssvpev felslsiflt llsnfkthlk mqievffkei flyiletsts
      541 sfdhkwmviq tltricadaq svvdiyvnyd cdlnaanife rlvndlskia qgrgsqelgm
      601 snvqelslrk kgleclvsil kcmvewskdq yvnpnsqttl gqekpseqem seikhpetin
      661 rygslnsles tsssgigsys tqmsgtdnpe qfevlkqqke iieqgidlfn kkpkrgiqyl
      721 qeqgmlgttp ediaqflhqe erldstqvge flgdndkfnk evmyayvdqh dfsgkdfvsa
      781 lrmflegfrl pgeaqkidrl mekfaaryle cnqgqtlfas adtayvlays iimlttdlhs
      841 pqvknkmtke qyikmnrgin dskdlpeeyl saiyneiagk kismketkel tiptksskqn
      901 vasekqrrll ynlemeqmak takalmeavs hvqapftsat hlehvrpmfk lawtpflaaf
      961 svglqdcddt evaslclegi rcairiacif siqlerdayv qalarftllt vssgitemkq
     1021 knidtiktli tvahtdgnyl gnswheilkc isqlelaqli gtgvkpryis gtvrgregsl
     1081 tgtkdqapde fvglglvggn vdwkqiasiq esigetssqs vvvavdrift gstrldgnai
     1141 vdfvrwlcav smdellstth prmfslqkiv eisyynmgri rlqwsriwev igdhfnkvgc
     1201 npnedvaifa vdslrqlsmk flekgelanf rfqkdflrpf ehimkrnrsp tirdmvvrci
     1261 aqmvnsqaan irsgwknifs vfhlaasdqd esivelafqt tghivtlvfe khfpatidsf
     1321 qdavkclsef acnaafpdts meairlirhc akyvsdrpqa fkeytsddmn vapedrvwvr
     1381 gwfpilfels ciinrckldv rtrgltvmfe imktyghtye khwwqdlfri vfrifdnmkl
     1441 peqqtekaew mtttcnhaly aicdvftqyl evlsdvlldd ifaqlywcvq qdneqlarsg
     1501 tnclenvvil ngekftleiw dktcnctldi fkttiphall twrpnsgeta ppppspdtis
     1561 qksvdihdsi qprsvdnrpq aplvsasavn eevskiksta kfpeqklfaa llikcvvqle
     1621 liqtidnivf fpatskkeda enlaaaqrda vdfdvrvdtq dqgmyrflts qqlfklldcl
     1681 leshrfakaf nsnneqrtal wkagfkgksk pnllkqetss lacglrilfr mymdesrvsa
     1741 weevqqrlln vcsealsyfl tltseshrea wtnllllflt kvlkisdnrf kahasfyypl
     1801 lceimqfdli pelravlrrf flrigvvfqi sqppeqelgi nkq
//
LOCUS       NP_001371545             518 aa            linear   PRI 22-JAN-2023
DEFINITION  dipeptidyl peptidase 9 isoform 2 [Homo sapiens].
ACCESSION   NP_001371545
VERSION     NP_001371545.1
DBSOURCE    REFSEQ: accession NM_001384616.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 518)
  AUTHORS   Moecking J, Laohamonthonkul P, Mese K, Hagelueken G, Steiner A,
            Harapas CR, Sandow JJ, Graves JD, Masters SL and Geyer M.
  TITLE     Inflammasome sensor NLRP1 disease variant M1184V promotes
            autoproteolysis and DPP9 complex formation by stabilizing the FIIND
            domain
  JOURNAL   J Biol Chem 298 (12), 102645 (2022)
   PUBMED   36309085
  REMARK    GeneRIF: Inflammasome sensor NLRP1 disease variant M1184V promotes
            autoproteolysis and DPP9 complex formation by stabilizing the FIIND
            domain.
REFERENCE   2  (residues 1 to 518)
  AUTHORS   Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA,
            Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X,
            Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang
            B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P,
            Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe
            F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch
            C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras
            A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M,
            Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers
            C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM,
            Elliott P, Walsh T, Tenesa A, Fawkes A, Murphy L, Rowan K, Ponting
            CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry
            SC, Moutsianas L, Law A, Caulfield MJ and Baillie JK.
  CONSRTM   GenOMICC investigators; 23andMe investigators; COVID-19 Human
            Genetics Initiative
  TITLE     Whole-genome sequencing reveals host factors underlying critical
            COVID-19
  JOURNAL   Nature 607 (7917), 97-103 (2022)
   PUBMED   35255492
REFERENCE   3  (residues 1 to 518)
  AUTHORS   Sharif-Zak M, Abbasi-Jorjandi M, Asadikaram G, Ghoreshi ZA,
            Rezazadeh-Jabalbarzi M, Afsharipur A, Rashidinejad H, Khajepour F,
            Jafarzadeh A, Arefinia N, Kheyrkhah A and Abolhassani M.
  TITLE     CCR2 and DPP9 expression in the peripheral blood of COVID-19
            patients: Influences of the disease severity and gender
  JOURNAL   Immunobiology 227 (2), 152184 (2022)
   PUBMED   35131543
  REMARK    GeneRIF: CCR2 and DPP9 expression in the peripheral blood of
            COVID-19 patients: Influences of the disease severity and gender.
REFERENCE   4  (residues 1 to 518)
  AUTHORS   Sharif H, Hollingsworth LR, Griswold AR, Hsiao JC, Wang Q,
            Bachovchin DA and Wu H.
  TITLE     Dipeptidyl peptidase 9 sets a threshold for CARD8 inflammasome
            formation by sequestering its active C-terminal fragment
  JOURNAL   Immunity 54 (7), 1392-1404 (2021)
   PUBMED   34019797
  REMARK    GeneRIF: Dipeptidyl peptidase 9 sets a threshold for CARD8
            inflammasome formation by sequestering its active C-terminal
            fragment.
REFERENCE   5  (residues 1 to 518)
  AUTHORS   Zhang Y, Li K, Li Y, Zhao W, Wang L, Chen Z, Ma X, Yao T, Wang J,
            Dong W, Li X, Tian X and Fu R.
  TITLE     Profibrotic mechanisms of DPP8 and DPP9 highly expressed in the
            proximal renal tubule epithelial cells
  JOURNAL   Pharmacol Res 169, 105630 (2021)
   PUBMED   33932609
  REMARK    GeneRIF: Profibrotic mechanisms of DPP8 and DPP9 highly expressed
            in the proximal renal tubule epithelial cells.
REFERENCE   6  (residues 1 to 518)
  AUTHORS   Ogasawara W, Tanaka C, Suzuki M, Kobayashi G, Ogawa Y, Okada H and
            Morikawa Y.
  TITLE     Isoforms of dipeptidyl aminopeptidase IV from Pseudomonas sp. WO24:
            role of the signal sequence and overexpression in Escherichia coli
  JOURNAL   Protein Expr Purif 41 (2), 241-251 (2005)
   PUBMED   15866709
REFERENCE   7  (residues 1 to 518)
  AUTHORS   Ajami K, Abbott CA, McCaughan GW and Gorrell MD.
  TITLE     Dipeptidyl peptidase 9 has two forms, a broad tissue distribution,
            cytoplasmic localization and DPIV-like peptidase activity
  JOURNAL   Biochim Biophys Acta 1679 (1), 18-28 (2004)
   PUBMED   15245913
  REMARK    GeneRIF: identification of two forms, their tissue distribution,
            cytoplasmic localization
REFERENCE   8  (residues 1 to 518)
  AUTHORS   Qi SY, Riviere PJ, Trojnar J, Junien JL and Akinsanya KO.
  TITLE     Cloning and characterization of dipeptidyl peptidase 10, a new
            member of an emerging subgroup of serine proteases
  JOURNAL   Biochem J 373 (Pt 1), 179-189 (2003)
   PUBMED   12662155
REFERENCE   9  (residues 1 to 518)
  AUTHORS   Ajami K, Abbott CA, Obradovic M, Gysbers V, Kahne T, McCaughan GW
            and Gorrell MD.
  TITLE     Structural requirements for catalysis, expression, and dimerization
            in the CD26/DPIV gene family
  JOURNAL   Biochemistry 42 (3), 694-701 (2003)
   PUBMED   12534281
REFERENCE   10 (residues 1 to 518)
  AUTHORS   Olsen C and Wagtmann N.
  TITLE     Identification and characterization of human DPP9, a novel
            homologue of dipeptidyl peptidase IV
  JOURNAL   Gene 299 (1-2), 185-193 (2002)
   PUBMED   12459266
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005783.1 and AC005594.1.
            
            Summary: This gene encodes a protein that is a member of the S9B
            family in clan SC of the serine proteases. The protein has been
            shown to have post-proline dipeptidyl aminopeptidase activity,
            cleaving Xaa-Pro dipeptides from the N-termini of proteins.
            Although the activity of this protein is similar to that of
            dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane
            bound. In general, dipeptidyl peptidases appear to be involved in
            the regulation of the activity of their substrates and have been
            linked to a variety of diseases including type 2 diabetes, obesity
            and cancer. Several transcript variants of this gene have been
            described but not fully characterized. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (9), as well as variant 2, encodes
            isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.68875.1,
                                           SRR14038194.3192961.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
                                   variant(s)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..518
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..518
                     /product="dipeptidyl peptidase 9 isoform 2"
                     /EC_number="3.4.14.5"
                     /note="dipeptidyl peptidase IV-related protein-2;
                     dipeptidyl peptidase IX; dipeptidyl peptidase-like protein
                     9"
                     /calculated_mol_wt=58939
     Region          <53..164
                     /region_name="Dpp_8_9_N"
                     /note="Dipeptidyl peptidase 8 and 9 N-terminal; pfam19520"
                     /db_xref="CDD:437352"
     Region          175..>495
                     /region_name="DPPIV_N"
                     /note="Dipeptidyl peptidase IV (DPP IV) N-terminal region;
                     pfam00930"
                     /db_xref="CDD:395744"
     CDS             1..518
                     /gene="DPP9"
                     /gene_synonym="DP9; DPLP9; DPP IX; DPRP-2; DPRP2"
                     /coded_by="NM_001384616.1:368..1924"
                     /note="isoform 2 is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS92492.1"
                     /db_xref="GeneID:91039"
                     /db_xref="HGNC:HGNC:18648"
                     /db_xref="MIM:608258"
ORIGIN      
        1 mrkvkklrld kentgswrsf slnsegaerm attgtptadr gdaaatddpa arfqvqkhsw
       61 dglrsiihgs rkysglivnk aphdfqfvqk tdesgphshr lyylgmpygs rensllysei
      121 pkkvrkeall llswkqmldh fqatphhgvy sreeellrer krlgvfgits ydfhsesglf
      181 lfqasnslfh crdggkngfm vspmkpleik tqcsgprmdp kicpadpaff sfinnsdlwv
      241 anietgeerr ltfchqglsn vlddpksagv atfviqeefd rftgywwcpt aswegseglk
      301 tlrilyeevd esevevihvp spaleerktd syryprtgsk npkialklae fqtdsqgkiv
      361 stqekelvqp fsslfpkvey iaragwtrdg kyawamfldr pqqwlqlvll ppalfipste
      421 neeqrlasar avprnvqpyv vyeevtnvwi nvhdifypfp qsegedelcf lranecktgf
      481 chlykvtavl ksqgydwsep fspgegeqsl tnavdssr
//
LOCUS       NP_055037                172 aa            linear   PRI 29-JAN-2023
DEFINITION  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8
            isoform 1 [Homo sapiens].
ACCESSION   NP_055037
VERSION     NP_055037.1
DBSOURCE    REFSEQ: accession NM_014222.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 172)
  AUTHORS   Qiu L, Sheng P and Wang X.
  TITLE     Identification of Metabolic Syndrome-Related miRNA-mRNA Regulatory
            Networks and Key Genes Based on Bioinformatics Analysis
  JOURNAL   Biochem Genet 61 (1), 428-447 (2023)
   PUBMED   35877019
  REMARK    GeneRIF: Identification of Metabolic Syndrome-Related miRNA-mRNA
            Regulatory Networks and Key Genes Based on Bioinformatics Analysis.
REFERENCE   2  (residues 1 to 172)
  AUTHORS   Tort F, Barredo E, Parthasarathy R, Ugarteburu O, Ferrer-Cortes X,
            Garcia-Villoria J, Gort L, Gonzalez-Quintana A, Martin MA,
            Fernandez-Vizarra E, Zeviani M and Ribes A.
  TITLE     Biallelic mutations in NDUFA8 cause complex I deficiency in two
            siblings with favorable clinical evolution
  JOURNAL   Mol Genet Metab 131 (3), 349-357 (2020)
   PUBMED   33153867
  REMARK    GeneRIF: Biallelic mutations in NDUFA8 cause complex I deficiency
            in two siblings with favorable clinical evolution.
REFERENCE   3  (residues 1 to 172)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 172)
  AUTHORS   Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T,
            Nitta KR, Ohtake A, Murayama K, Ryan MT and Okazaki Y.
  TITLE     A homozygous variant in NDUFA8 is associated with developmental
            delay, microcephaly, and epilepsy due to mitochondrial complex I
            deficiency
  JOURNAL   Clin Genet 98 (2), 155-165 (2020)
   PUBMED   32385911
  REMARK    GeneRIF: A homozygous variant in NDUFA8 is associated with
            developmental delay, microcephaly, and epilepsy due to
            mitochondrial complex I deficiency.
REFERENCE   5  (residues 1 to 172)
  AUTHORS   Signes A and Fernandez-Vizarra E.
  TITLE     Assembly of mammalian oxidative phosphorylation complexes I-V and
            supercomplexes
  JOURNAL   Essays Biochem 62 (3), 255-270 (2018)
   PUBMED   30030361
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 172)
  AUTHORS   Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA,
            Smeets RJ, Trijbels JM and Smeitink JA.
  TITLE     cDNA of eight nuclear encoded subunits of NADH:ubiquinone
            oxidoreductase: human complex I cDNA characterization completed
  JOURNAL   Biochem Biophys Res Commun 253 (2), 415-422 (1998)
   PUBMED   9878551
REFERENCE   7  (residues 1 to 172)
  AUTHORS   Triepels R, van den Heuvel L, Loeffen J, Smeets R, Trijbels F and
            Smeitink J.
  TITLE     The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8
            subunit: cDNA cloning, chromosomal localization, tissue
            distribution, and mutation detection in complex-I-deficient
            patients
  JOURNAL   Hum Genet 103 (5), 557-563 (1998)
   PUBMED   9860297
REFERENCE   8  (residues 1 to 172)
  AUTHORS   Smeitink J, Loeffen J, Smeets R, Triepels R, Ruitenbeek W, Trijbels
            F and van den Heuvel L.
  TITLE     Molecular characterization and mutational analysis of the human B17
            subunit of the mitochondrial respiratory chain complex I
  JOURNAL   Hum Genet 103 (2), 245-250 (1998)
   PUBMED   9760212
REFERENCE   9  (residues 1 to 172)
  AUTHORS   Emahazion T, Beskow A, Gyllensten U and Brookes AJ.
  TITLE     Intron based radiation hybrid mapping of 15 complex I genes of the
            human electron transport chain
  JOURNAL   Cytogenet Cell Genet 82 (1-2), 115-119 (1998)
   PUBMED   9763677
REFERENCE   10 (residues 1 to 172)
  AUTHORS   Sarto C, Marocchi A, Sanchez JC, Giannone D, Frutiger S, Golaz O,
            Wilkins MR, Doro G, Cappellano F, Hughes G, Hochstrasser DF and
            Mocarelli P.
  TITLE     Renal cell carcinoma and normal kidney protein expression
  JOURNAL   Electrophoresis 18 (3-4), 599-604 (1997)
   PUBMED   9150947
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK314135.1 and BC001016.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene belongs to the complex I
            19 kDa subunit family. Mammalian complex I is composed of 45
            different subunits. This protein has NADH dehydrogenase activity
            and oxidoreductase activity. It plays an important role in
            transfering electrons from NADH to the respiratory chain. The
            immediate electron acceptor for the enzyme is believed to be
            ubiquinone. Alternative splicing of this gene results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189661.4286.1,
                                           SRR5189664.130104.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000373768.4/
                                                  ENSP00000362873.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..172
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     Protein         1..172
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex subunit 8 isoform 1"
                     /EC_number="7.1.1.2"
                     /EC_number="1.6.99.3"
                     /note="NADH-ubiquinone oxidoreductase 19 kDa subunit;
                     NADH:ubiquinone oxidoreductase PGIV subunit; NADH
                     dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8;
                     complex I-19kD; complex I-PGIV; NADH dehydrogenase
                     (ubiquinone) 1 alpha subcomplex, 8, 19kDa"
                     /calculated_mol_wt=19974
     Region          36..46
                     /region_name="Cx9C motif 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01150"
                     /note="propagated from UniProtKB/Swiss-Prot (P51970.3)"
     Region          56..66
                     /region_name="Cx9C motif 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01150"
                     /note="propagated from UniProtKB/Swiss-Prot (P51970.3)"
     Region          78..111
                     /region_name="CHCH"
                     /note="CHCH domain; pfam06747"
                     /db_xref="CDD:429096"
     Region          78..88
                     /region_name="Cx9C motif 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01150"
                     /note="propagated from UniProtKB/Swiss-Prot (P51970.3)"
     Region          100..110
                     /region_name="Cx9C motif 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01150"
                     /note="propagated from UniProtKB/Swiss-Prot (P51970.3)"
     Region          133..164
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P51970.3)"
     CDS             1..172
                     /gene="NDUFA8"
                     /gene_synonym="CI-19KD; CI-PGIV; MC1DN37; PGIV"
                     /coded_by="NM_014222.3:103..621"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS6835.1"
                     /db_xref="GeneID:4702"
                     /db_xref="HGNC:HGNC:7692"
                     /db_xref="MIM:603359"
ORIGIN      
        1 mpgivelptl eelkvdevki ssavlkaaah hygaqcdkpn kefmlcrwee kdprrcleeg
       61 klvnkcaldf frqikrhcae pfteywtcid ytgqqlfrhc rkqqakfdec vldklgwvrp
      121 dlgelskvtk vktdrplpen pyhsrprpdp speiegdlqp athgsrfyfw tk
//
LOCUS       NP_659465                367 aa            linear   PRI 29-JAN-2023
DEFINITION  armadillo repeat-containing protein 12 isoform a [Homo sapiens].
ACCESSION   NP_659465
VERSION     NP_659465.2
DBSOURCE    REFSEQ: accession NM_145028.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 367)
  AUTHORS   Liu W, Wei X, Liu X, Chen G, Zhang X, Liang X, Isachenko V, Sha Y
            and Wang Y.
  TITLE     Biallelic mutations in ARMC12 cause asthenozoospermia and multiple
            midpiece defects in humans and mice
  JOURNAL   J Med Genet 60 (2), 154-162 (2023)
   PUBMED   35534203
  REMARK    GeneRIF: Biallelic mutations in ARMC12 cause asthenozoospermia and
            multiple midpiece defects in humans and mice.
REFERENCE   2  (residues 1 to 367)
  AUTHORS   Shimada K, Park S, Miyata H, Yu Z, Morohoshi A, Oura S, Matzuk MM
            and Ikawa M.
  TITLE     ARMC12 regulates spatiotemporal mitochondrial dynamics during
            spermiogenesis and is required for male fertility
  JOURNAL   Proc Natl Acad Sci U S A 118 (6) (2021)
   PUBMED   33536340
  REMARK    GeneRIF: ARMC12 regulates spatiotemporal mitochondrial dynamics
            during spermiogenesis and is required for male fertility.
REFERENCE   3  (residues 1 to 367)
  AUTHORS   Li D, Song H, Mei H, Fang E, Wang X, Yang F, Li H, Chen Y, Huang K,
            Zheng L and Tong Q.
  TITLE     Armadillo repeat containing 12 promotes neuroblastoma progression
            through interaction with retinoblastoma binding protein 4
  JOURNAL   Nat Commun 9 (1), 2829 (2018)
   PUBMED   30026490
  REMARK    GeneRIF: ARMC12 promotes neuroblastoma progression through
            interaction with RBBP4.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB070109.1, BC033033.2, AL157823.9 and AA625684.1.
            On Jun 9, 2003 this sequence version replaced NP_659465.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC033033.2, BI826655.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     Protein         1..367
                     /product="armadillo repeat-containing protein 12 isoform
                     a"
                     /note="armadillo repeat-containing protein 12"
                     /calculated_mol_wt=41056
     Region          93..315
                     /region_name="Arm_2"
                     /note="Armadillo-like; pfam04826"
                     /db_xref="CDD:428145"
     CDS             1..367
                     /gene="ARMC12"
                     /gene_synonym="C6orf81"
                     /coded_by="NM_145028.5:78..1181"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS4809.1"
                     /db_xref="GeneID:221481"
                     /db_xref="HGNC:HGNC:21099"
ORIGIN      
        1 mgksipqylg qldirksvvs latgagaiyl lykaikagik ckpplcsnsp iciarecpgp
       61 geralpqeap apeasavggp kglavererh grdsgelrrl lnsleckqde yaksmilhsi
      121 trcvylleae asacttddiv llgymlddkd nsvktqalnt lkafsgirkf rlkiqehsik
      181 vlelistiwd telhiaglrl lnnlplpdyv hpqlrrvmpa lmeilqsdyi laqvqavrll
      241 sylaqkndll ydilncqvhs nflnlfqptq sgsllyevlv faerlsegrn aphyhvvkwh
      301 yneqslhesl fgeesrladr llalvihpee dvqiqackvi vslqypqdlr arpsscqpsr
      361 syfknte
//
LOCUS       NP_001291968             666 aa            linear   PRI 29-JAN-2023
DEFINITION  zinc finger protein 33B isoform 3 [Homo sapiens].
ACCESSION   NP_001291968 XP_006718030
VERSION     NP_001291968.1
DBSOURCE    REFSEQ: accession NM_001305039.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 666)
  AUTHORS   Lee S, Prokopenko D, Kelly RS, Lutz S, Ann Lasky-Su J, Cho MH,
            Laurie C, Celedon JC, Lange C, Weiss ST, Hecker J and DeMeo DL.
  TITLE     Zinc finger protein 33B demonstrates sex interaction with
            atopy-related markers in childhood asthma
  JOURNAL   Eur Respir J 61 (1), 2200479 (2023)
   PUBMED   35953101
  REMARK    GeneRIF: Zinc finger protein 33B demonstrates sex interaction with
            atopy-related markers in childhood asthma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 666)
  AUTHORS   de los Santos MJ, Garcia-Laez V, Beltran-Torregrosa D, Horcajadas
            JA, Martinez-Conejero JA, Esteban FJ, Pellicer A and Labarta E.
  TITLE     Hormonal and molecular characterization of follicular fluid,
            cumulus cells and oocytes from pre-ovulatory follicles in
            stimulated and unstimulated cycles
  JOURNAL   Hum Reprod 27 (6), 1596-1605 (2012)
   PUBMED   22451503
REFERENCE   3  (residues 1 to 666)
  AUTHORS   Tunnacliffe A, Liu L, Moore JK, Leversha MA, Jackson MS, Papi L,
            Ferguson-Smith MA, Thiesen HJ and Ponder BA.
  TITLE     Duplicated KOX zinc finger gene clusters flank the centromere of
            human chromosome 10: evidence for a pericentric inversion during
            primate evolution
  JOURNAL   Nucleic Acids Res 21 (6), 1409-1417 (1993)
   PUBMED   8464732
REFERENCE   4  (residues 1 to 666)
  AUTHORS   Rousseau-Merck MF, Tunnacliffe A, Berger R, Ponder BA and Thiesen
            HJ.
  TITLE     A cluster of expressed zinc finger protein genes in the
            pericentromeric region of human chromosome 10
  JOURNAL   Genomics 13 (3), 845-848 (1992)
   PUBMED   1639412
REFERENCE   5  (residues 1 to 666)
  AUTHORS   Huebner K, Druck T, Croce CM and Thiesen HJ.
  TITLE     Twenty-seven nonoverlapping zinc finger cDNAs from human T cells
            map to nine different chromosomes with apparent clustering
  JOURNAL   Am J Hum Genet 48 (4), 726-740 (1991)
   PUBMED   2014798
REFERENCE   6  (residues 1 to 666)
  AUTHORS   Thiesen HJ.
  TITLE     Multiple genes encoding zinc finger domains are expressed in human
            T cells
  JOURNAL   New Biol 2 (4), 363-374 (1990)
   PUBMED   2288909
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK310073.1, DA493121.1 and
            AJ491697.1.
            On Mar 22, 2015 this sequence version replaced XP_006718030.1.
            
            Summary: This gene encodes a member of the zinc finger family of
            proteins. This gene shows decreased expression in cumulus cells
            derived from patients undergoing controlled ovarian stimulation.
            This gene is present in a gene cluster with several related zinc
            finger genes in the pericentromeric region of chromosome 10.
            Pseudogenes have been identified on chromosomes 7 and 10.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Feb 2015].
            
            Transcript Variant: This variant (7) differs in the 5' UTR and
            initiates translation at an in-frame downstream start codon,
            compared to variant 1. The encoded isoform (3) has a shorter
            N-terminus compared to isoform 1. Variants 3-8 encode the same
            isoform (3).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.82679.1, DA485572.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..666
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.21"
     Protein         1..666
                     /product="zinc finger protein 33B isoform 3"
                     /note="zinc finger protein 33b (KOX 31); zinc finger
                     protein 11b (KOX 2)"
                     /calculated_mol_wt=77237
     Region          191..211
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          219..239
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          247..267
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(252,254,256,258..259,262..263,266,280,282,286..287,
                     290..291,294,308,310,312,314..315,318..319,322)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          271..660
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          275..295
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          303..323
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          331..351
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          359..379
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          387..407
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          415..435
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          443..463
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          471..491
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(476,478,480,482..483,486..487,490,504,506,510..511,
                     514..515,518,532,534,536,538..539,542..543,546)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          499..519
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          527..547
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          555..575
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          583..603
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          611..631
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          639..659
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..666
                     /gene="ZNF33B"
                     /gene_synonym="KOX2; KOX31; ZNF11B"
                     /coded_by="NM_001305039.2:560..2560"
                     /note="isoform 3 is encoded by transcript variant 7"
                     /db_xref="GeneID:7582"
                     /db_xref="HGNC:HGNC:13097"
                     /db_xref="MIM:194522"
ORIGIN      
        1 mltkeqgnvi gipfnmdvss fpsrkmfcqy dsrgmsfntv selviskiny lgkksdefna
       61 cgklllnikh dethtrekne vlknrntlsh rentlqheki qtldhnfeys icqetlleka
      121 vfntrkrena eenncdynef grtfcdsssl lfhqippskd shyefsdcek flcvkstlsk
      181 hdgvpvkhyd cgesgnnfrr klclsqlqkg dkgekhfecn ecgkafweks hltrhqrvht
      241 gekhfqcnqc gktfweksnl tkhqrshtge kpfecnecgk afshksaltl hqrthtgekp
      301 yqcnacgktf yqksdltkhq rthtgqkpye cyecgksfcm nshltvhqrt htgekpfecl
      361 ecgksfcqks hltqhqrthi gdkpyecnac gktfyhksvl trhqiihtgl kpyecyecgk
      421 tfclksdlti hqrthtgekp facpecgkff shkstlsqhy rthtgekpye checgkifyn
      481 ksyltkhnrt htgekpyecn ecgktfcqks qltqhqrihi gekpyecnec gkafchksal
      541 ivhqrthtqe kpykcnecgk sfcvksglil herkhtgekp yecnecgksf shkssltvhh
      601 rahtgekscq cnecgkifyr ksdlakhqrs htgekpyecn tcrktfsqks nlivhqrthi
      661 gekpye
//
LOCUS       NP_001291311              65 aa            linear   PRI 13-FEB-2023
DEFINITION  glycophorin-B isoform 2 [Homo sapiens].
ACCESSION   NP_001291311
VERSION     NP_001291311.1
DBSOURCE    REFSEQ: accession NM_001304382.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 65)
  AUTHORS   Liang Y, Ren J, Zhong F, Hong W, Su Y, Wu F, Liang S, Liu J, Fang
            S, Liang Y, Fan X, Lin J, Liu Y, Feng B and Xu Y.
  TITLE     Characterization of alternatively spliced transcript variants of
            glycophorin A and glycophorin B genes in Chinese blood donors
  JOURNAL   Vox Sang 117 (5), 715-723 (2022)
   PUBMED   35138639
  REMARK    GeneRIF: Characterization of alternatively spliced transcript
            variants of glycophorin A and glycophorin B genes in Chinese blood
            donors.
REFERENCE   2  (residues 1 to 65)
  AUTHORS   Wang X, Meng X, Meng L, Guo Y, Li Y, Yang C, Pei Z, Li J and Wang
            F.
  TITLE     Joint efficacy of the three biomarkers SNCA, GYPB and HBG1 for
            atrial fibrillation and stroke: Analysis via the support vector
            machine neural network
  JOURNAL   J Cell Mol Med 26 (7), 2010-2022 (2022)
   PUBMED   35138035
  REMARK    GeneRIF: Joint efficacy of the three biomarkers SNCA, GYPB and HBG1
            for atrial fibrillation and stroke: Analysis via the support vector
            machine neural network.
REFERENCE   3  (residues 1 to 65)
  AUTHORS   Wei L, Sun A, Wen J, Wang Z, Li Q, Liao Y, Luo G and Ji Y.
  TITLE     Molecular genetic analysis of Mia -positive hybrid glycophorins
            revealed two novel alleles of GP.Vw and multiple variant
            transcripts of GYPB existing in both the homozygous GP.Mur and
            wild-type GPB individuals
  JOURNAL   Transfusion 61 (8), 2477-2486 (2021)
   PUBMED   34117642
  REMARK    GeneRIF: Molecular genetic analysis of Mi(a) -positive hybrid
            glycophorins revealed two novel alleles of GP.Vw and multiple
            variant transcripts of GYPB existing in both the homozygous GP.Mur
            and wild-type GPB individuals.
REFERENCE   4  (residues 1 to 65)
  AUTHORS   Lapadat R, Anani WQ, Bensing KM, Aeschlimann J, Vege S,
            Lomas-Francis C, Westhoff CM, Fadeyi EA and Denomme GA.
  TITLE     A pair of S-silencing single nucleotide variants cis-linked on GYPB
  JOURNAL   Transfusion 61 (4), E34-E36 (2021)
   PUBMED   33733475
  REMARK    GeneRIF: A pair of S-silencing single nucleotide variants
            cis-linked on GYPB.
REFERENCE   5  (residues 1 to 65)
  AUTHORS   Amuzu DS, Rockett KA, Leffler EM, Ansah F, Amoako N, Morang'a CM,
            Hubbart C, Rowlands K, Jeffreys AE, Amenga-Etego LN, Kwiatkowski DP
            and Awandare GA.
  TITLE     High-throughput genotyping assays for identification of glycophorin
            B deletion variants in population studies
  JOURNAL   Exp Biol Med (Maywood) 246 (8), 916-928 (2021)
   PUBMED   33325748
  REMARK    GeneRIF: High-throughput genotyping assays for identification of
            glycophorin B deletion variants in population studies.
REFERENCE   6  (residues 1 to 65)
  AUTHORS   Blumenfeld OO and Huang CH.
  TITLE     Molecular genetics of the glycophorin gene family, the antigens for
            MNSs blood groups: multiple gene rearrangements and modulation of
            splice site usage result in extensive diversification
  JOURNAL   Hum Mutat 6 (3), 199-209 (1995)
   PUBMED   8535438
  REMARK    Review article
REFERENCE   7  (residues 1 to 65)
  AUTHORS   Huang CH, Spruell P, Moulds JJ and Blumenfeld OO.
  TITLE     Molecular basis for the human erythrocyte glycophorin specifying
            the Miltenberger class I (MiI) phenotype
  JOURNAL   Blood 80 (1), 257-263 (1992)
   PUBMED   1611092
REFERENCE   8  (residues 1 to 65)
  AUTHORS   Huang CH, Kikuchi M, McCreary J and Blumenfeld OO.
  TITLE     Gene conversion confined to a direct repeat of the acceptor splice
            site generates allelic diversity at human glycophorin (GYP) locus
  JOURNAL   J Biol Chem 267 (5), 3336-3342 (1992)
   PUBMED   1737789
REFERENCE   9  (residues 1 to 65)
  AUTHORS   Huang CH and Blumenfeld OO.
  TITLE     Identification of recombination events resulting in three hybrid
            genes encoding human MiV, MiV(J.L.), and Sta glycophorins
  JOURNAL   Blood 77 (8), 1813-1820 (1991)
   PUBMED   2015404
REFERENCE   10 (residues 1 to 65)
  AUTHORS   Rearden A, Phan H, Dubnicoff T, Kudo S and Fukuda M.
  TITLE     Identification of the crossing-over point of a hybrid gene encoding
            human glycophorin variant Sta. Similarity to the crossing-over
            point in haptoglobin-related genes
  JOURNAL   J Biol Chem 265 (16), 9259-9263 (1990)
   PUBMED   1971625
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093890.3, X08055.1 and
            BC069310.1.
            
            Summary: Glycophorins A (GYPA) and B (GYPB) are major
            sialoglycoproteins of the human erythrocyte membrane which bear the
            antigenic determinants for the MN and Ss blood groups. GYPB gene
            consists of 5 exons and has 97% sequence homology with GYPA from
            the 5' UTR to the coding sequence encoding the first 45 amino
            acids. In addition to the M or N and S or s antigens, that commonly
            occur in all populations, about 40 related variant phenotypes have
            been identified. These variants include all the variants of the
            Miltenberger complex and several isoforms of Sta; also, Dantu, Sat,
            He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the
            variants are the result of gene recombinations between GYPA and
            GYPB. Alternate splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2015].
            
            Transcript Variant: This variant (2) contains an alternate exon in
            its 5' UTR and initiates translation at an in-frame downstream
            start codon, compared to variant 1. The encoded isoform (2) has a
            shorter N-terminus than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed/partial sample support SAMEA2144333,
                              SAMEA2144335 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..65
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.21"
     Protein         1..65
                     /product="glycophorin-B isoform 2"
                     /note="Ss blood group; glycophorin-B; GYPB/GYPA fusion;
                     glycophorin Hop; glycophorin B transcript; hybrid
                     glycophorin Kip; glycophorin A; glycophorin B blood group
                     antigen; sialoglycoprotein delta; SS-active
                     sialoglycoprotein; glycophorin B/glycophorin A fusion
                     protein; GYPB-A fusion; blood group system MNSs, St(a)
                     type E; blood group system MNSs, St(a) type F; GYPB-A-B
                     fusion; blood group system MNSs, Mur-like; glycophorin B,
                     blood group system Ss, S, Mit+; Ss sialoglycoprotein"
                     /calculated_mol_wt=6884
     Region          <17..>64
                     /region_name="Glycophorin_A"
                     /note="Glycophorin A; pfam01102"
                     /db_xref="CDD:426050"
     CDS             1..65
                     /gene="GYPB"
                     /gene_synonym="CD235b; GPB; GYP; GYPA; MNS; PAS-3; SS"
                     /coded_by="NM_001304382.1:217..414"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS87264.1"
                     /db_xref="GeneID:2994"
                     /db_xref="HGNC:HGNC:4703"
                     /db_xref="MIM:617923"
ORIGIN      
        1 mhtstsssvt ksyissqtng etgqlvhrft vpapvviili ilcvmagiig tillisytir
       61 rlika
//
LOCUS       NP_660357                138 aa            linear   PRI 12-MAR-2023
DEFINITION  unique cartilage matrix-associated protein isoform 1 preproprotein
            [Homo sapiens].
ACCESSION   NP_660357
VERSION     NP_660357.2
DBSOURCE    REFSEQ: accession NM_145314.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 138)
  AUTHORS   Xiao H, Chen J, Duan L and Li S.
  TITLE     Role of emerging vitamin K-dependent proteins: Growth
            arrest-specific protein 6, Gla-rich protein and periostin (Review)
  JOURNAL   Int J Mol Med 47 (3) (2021)
   PUBMED   33448308
  REMARK    GeneRIF: Role of emerging vitamin Kdependent proteins: Growth
            arrestspecific protein 6, Glarich protein and periostin (Review).
            Review article
REFERENCE   2  (residues 1 to 138)
  AUTHORS   Lee SH, Lee YJ, Park SI and Kim JE.
  TITLE     Unique cartilage matrix-associated protein inhibits the migratory
            and invasive potential of triple-negative breast cancer
  JOURNAL   Biochem Biophys Res Commun 530 (4), 680-685 (2020)
   PUBMED   32768190
  REMARK    GeneRIF: Unique cartilage matrix-associated protein inhibits the
            migratory and invasive potential of triple-negative breast cancer.
REFERENCE   3  (residues 1 to 138)
  AUTHORS   Seuffert F, Weidner D, Baum W, Schett G and Stock M.
  TITLE     Upper zone of growth plate and cartilage matrix associated protein
            protects cartilage during inflammatory arthritis
  JOURNAL   Arthritis Res Ther 20 (1), 88 (2018)
   PUBMED   29720262
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 138)
  AUTHORS   Willems BA, Furmanik M, Caron MMJ, Chatrou MLL, Kusters DHM,
            Welting TJM, Stock M, Rafael MS, Viegas CSB, Simes DC, Vermeer C,
            Reutelingsperger CPM and Schurgers LJ.
  TITLE     Ucma/GRP inhibits phosphate-induced vascular smooth muscle cell
            calcification via SMAD-dependent BMP signalling
  JOURNAL   Sci Rep 8 (1), 4961 (2018)
   PUBMED   29563538
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 138)
  AUTHORS   Rafael MS, Cavaco S, Viegas CS, Santos S, Ramos A, Willems BA,
            Herfs M, Theuwissen E, Vermeer C and Simes DC.
  TITLE     Insights into the association of Gla-rich protein and
            osteoarthritis, novel splice variants and gamma-carboxylation
            status
  JOURNAL   Mol Nutr Food Res 58 (8), 1636-1646 (2014)
   PUBMED   24867294
  REMARK    GeneRIF: Data suggest that novel splice variants of GRP are
            expressed in cartilage and other tissues (i.e. GRP-F5, GRP-F6);
            GRP-F1 is predominant splice variant expressed in adult tissues
            particularly in cartilage of patients with osteoarthritis.
REFERENCE   6  (residues 1 to 138)
  AUTHORS   Osman A, Uhlin F, Franlund E, Fernstrom A and Magnusson P.
  TITLE     Exon resequencing of the gene encoding UCma/GRP reveals a common
            carboxy-terminal 138Thr > Ser polymorphism
  JOURNAL   Clin Lab 59 (11-12), 1397-1401 (2013)
   PUBMED   24409676
  REMARK    GeneRIF: full exon resequencing of DNA samples from 17 chronic
            kidney disease patients (stage 5) and 121 healthy controls in a
            Swsedish population; the 138Thr > Ser polymorphism seems to be the
            only non-synonymous SNP found in the UCMA gene in a Swedish
            population
REFERENCE   7  (residues 1 to 138)
  AUTHORS   Le Jeune M, Tomavo N, Tian TV, Flourens A, Marchand N, Camuzeaux B,
            Mallein-Gerin F and Duterque-Coquillaud M.
  TITLE     Identification of four alternatively spliced transcripts of the
            Ucma/GRP gene, encoding a new Gla-containing protein
  JOURNAL   Exp Cell Res 316 (2), 203-215 (2010)
   PUBMED   19819238
REFERENCE   8  (residues 1 to 138)
  AUTHORS   Viegas CS, Simes DC, Laize V, Williamson MK, Price PA and Cancela
            ML.
  TITLE     Gla-rich protein (GRP), a new vitamin K-dependent protein
            identified from sturgeon cartilage and highly conserved in
            vertebrates
  JOURNAL   J Biol Chem 283 (52), 36655-36664 (2008)
   PUBMED   18836183
  REMARK    GeneRIF: Gla-rich protein (GRP) is a new vitamin K-dependent
            protein that can bind calcium through Gla residues.
REFERENCE   9  (residues 1 to 138)
  AUTHORS   Surmann-Schmitt C, Dietz U, Kireva T, Adam N, Park J, Tagariello A,
            Onnerfjord P, Heinegard D, Schlotzer-Schrehardt U, Deutzmann R, von
            der Mark K and Stock M.
  TITLE     Ucma, a novel secreted cartilage-specific protein with implications
            in osteogenesis
  JOURNAL   J Biol Chem 283 (11), 7082-7093 (2008)
   PUBMED   18156182
  REMARK    GeneRIF: Ucma may be involved in the negative control of osteogenic
            differentiation of osteochondrogenic precursor cells
REFERENCE   10 (residues 1 to 138)
  AUTHORS   Tagariello A, Luther J, Streiter M, Didt-Koziel L, Wuelling M,
            Surmann-Schmitt C, Stock M, Adam N, Vortkamp A and Winterpacht A.
  TITLE     Ucma--A novel secreted factor represents a highly specific marker
            for distal chondrocytes
  JOURNAL   Matrix Biol 27 (1), 3-11 (2008)
   PUBMED   17707622
  REMARK    GeneRIF: The present data strongly suggest an important function of
            Ucma in the early phase of chondrocyte differentiation.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138764.21, BC018068.1 and
            AA628504.1.
            On Jul 20, 2004 this sequence version replaced NP_660357.1.
            
            Summary: This gene encodes a chondrocyte-specific, highly charged
            protein that is abundantly expressed in the upper immature zone of
            fetal and juvenile epiphyseal cartilage. The encoded protein
            undergoes proteolytic processing to generate a mature protein that
            is secreted into the extracellular matrix. The glutamic acid
            residues in the encoded protein undergo gamma carboxylation in a
            vitamin K-dependent manner. Undercarboxylation of the encoded
            protein is associated with osteoarthritis in humans. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Jul 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC018068.1, BG709040.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151741, SAMN03267763
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378681.8/ ENSP00000367952.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..138
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p13"
     Protein         1..138
                     /product="unique cartilage matrix-associated protein
                     isoform 1 preproprotein"
                     /note="unique cartilage matrix-associated protein;
                     Gla-rich protein"
                     /calculated_mol_wt=13682
     Region          1..134
                     /region_name="UCMA"
                     /note="Unique cartilage matrix associated protein;
                     pfam17085"
                     /db_xref="CDD:293690"
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2900
     mat_peptide     27..138
                     /product="Unique cartilage matrix-associated protein.
                     /id=PRO_0000019549"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WVF2.2)"
                     /calculated_mol_wt=13682
     mat_peptide     65..138
                     /product="Unique cartilage matrix-associated protein
                     C-terminal fragment. /id=PRO_0000347064"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WVF2.2)"
                     /calculated_mol_wt=9438
     CDS             1..138
                     /gene="UCMA"
                     /gene_synonym="C10orf49; GRP; GRP/UCMA"
                     /coded_by="NM_145314.3:117..533"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS31147.1"
                     /db_xref="GeneID:221044"
                     /db_xref="HGNC:HGNC:25205"
ORIGIN      
        1 mtwrqavlls cfsavvllsm lregtsvsvg tmqmageeas edakqkifmq esdasnflkr
       61 rgkrspksrd evnvenrqkl rvdelrreyy eeqrnefenf veeqndeqee rsreaveqwr
      121 qwhydglhps ylynrhht
//
LOCUS       NP_005404                332 aa            linear   PRI 12-MAR-2023
DEFINITION  homeobox protein SIX3 [Homo sapiens].
ACCESSION   NP_005404
VERSION     NP_005404.1
DBSOURCE    REFSEQ: accession NM_005413.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 332)
  AUTHORS   Bando H, Brinkmeier ML, Castinetti F, Fang Q, Lee MS, Saveanu A,
            Albarel F, Dupuis C, Brue T and Camper SA.
  TITLE     Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone
            deficiency in mouse and man
  JOURNAL   Hum Mol Genet 32 (3), 367-385 (2023)
   PUBMED   35951005
  REMARK    GeneRIF: Heterozygous variants in SIX3 and POU1F1 cause pituitary
            hormone deficiency in mouse and man.
REFERENCE   2  (residues 1 to 332)
  AUTHORS   Liu S, Tian Y, Zheng Y, Cheng Y, Zhang D, Jiang J and Li S.
  TITLE     TRIM27 acts as an oncogene and regulates cell proliferation and
            metastasis in non-small cell lung cancer through SIX3-beta-catenin
            signaling
  JOURNAL   Aging (Albany NY) 12 (24), 25564-25580 (2020)
   PUBMED   33264103
  REMARK    GeneRIF: TRIM27 acts as an oncogene and regulates cell
            proliferation and metastasis in non-small cell lung cancer through
            SIX3-beta-catenin signaling.
REFERENCE   3  (residues 1 to 332)
  AUTHORS   Yu Z, Feng J, Wang W, Deng Z, Zhang Y, Xiao L, Wang Z, Liu C, Liu
            Q, Chen S and Wu M.
  TITLE     The EGFR-ZNF263 signaling axis silences SIX3 in glioblastoma
            epigenetically
  JOURNAL   Oncogene 39 (15), 3163-3178 (2020)
   PUBMED   32051553
  REMARK    GeneRIF: The EGFR-ZNF263 signaling axis silences SIX3 in
            glioblastoma epigenetically.
REFERENCE   4  (residues 1 to 332)
  AUTHORS   Mikkola I, Bruun JA, Holm T and Johansen T.
  TITLE     Superactivation of Pax6-mediated transactivation from paired
            domain-binding sites by dna-independent recruitment of different
            homeodomain proteins
  JOURNAL   J Biol Chem 276 (6), 4109-4118 (2001)
   PUBMED   11069920
REFERENCE   5  (residues 1 to 332)
  AUTHORS   Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa
            A, Gillessen-Kaesbach G, Zackai EH, Rommens J and Muenke M.
  TITLE     Mutations in the homeodomain of the human SIX3 gene cause
            holoprosencephaly
  JOURNAL   Nat Genet 22 (2), 196-198 (1999)
   PUBMED   10369266
REFERENCE   6  (residues 1 to 332)
  AUTHORS   Leppert GS, Yang JM and Sundin OH.
  TITLE     Sequence and location of SIX3, a homeobox gene expressed in the
            human eye
  JOURNAL   Ophthalmic Genet 20 (1), 7-21 (1999)
   PUBMED   10415461
REFERENCE   7  (residues 1 to 332)
  AUTHORS   Granadino B, Gallardo ME, Lopez-Rios J, Sanz R, Ramos C, Ayuso C,
            Bovolenta P and Rodriguez de Cordoba S.
  TITLE     Genomic cloning, structure, expression pattern, and chromosomal
            location of the human SIX3 gene
  JOURNAL   Genomics 55 (1), 100-105 (1999)
   PUBMED   9889003
REFERENCE   8  (residues 1 to 332)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301702
REFERENCE   9  (residues 1 to 332)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   10 (residues 1 to 332)
  AUTHORS   Hecht,B.K., Hecht,F. and Munke,M.
  TITLE     Forebrain cleavage gene causing holoprosencephaly: deletion mapping
            to chromosome band 2p21
  JOURNAL   Am J Med Genet 40 (1), 130 (1991)
   PUBMED   1887845
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012354.11, AJ012611.1,
            BF570321.1, EL952320.1 and CD673488.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the sine oculis homeobox
            transcription factor family. The encoded protein plays a role in
            eye development. Mutations in this gene have been associated with
            holoprosencephaly type 2. [provided by RefSeq, Oct 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ012611.1, BF570321.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000260653.5/ ENSP00000260653.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..332
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     Protein         1..332
                     /product="homeobox protein SIX3"
                     /note="sine oculis homeobox homolog 3; sine oculis
                     homeobox-like protein 3"
                     /calculated_mol_wt=35356
     Region          72..119
                     /region_name="Interaction with TLE5.
                     /evidence=ECO:0000250|UniProtKB:Q62233"
                     /note="propagated from UniProtKB/Swiss-Prot (O95343.1)"
     Region          87..200
                     /region_name="SIX1_SD"
                     /note="Transcriptional regulator, SIX1, N-terminal SD
                     domain; pfam16878"
                     /db_xref="CDD:435624"
     Region          208..256
                     /region_name="homeodomain"
                     /note="Homeodomain; DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; cd00086"
                     /db_xref="CDD:238039"
     Site            order(209,212,252,255..256)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          232..251
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95343.1)"
     Region          232..234
                     /region_name="Bind to RHO promoter.
                     /evidence=ECO:0000250|UniProtKB:Q62233"
                     /note="propagated from UniProtKB/Swiss-Prot (O95343.1)"
     Region          258..332
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95343.1)"
     CDS             1..332
                     /gene="SIX3"
                     /gene_synonym="HPE2"
                     /coded_by="NM_005413.4:404..1402"
                     /db_xref="CCDS:CCDS1821.1"
                     /db_xref="GeneID:6496"
                     /db_xref="HGNC:HGNC:10889"
                     /db_xref="MIM:603714"
ORIGIN      
        1 mvfrspldly sshfllpnfa dshhrsilla ssgggngagg gggagggsgg gngaggggag
       61 gagggggggs rappeelsmf qlptlnfspe qvasvcetle etgdierlgr flwslpvapg
      121 aceainkhes ilraravvaf htgnfrdlyh ilenhkftke shgklqamwl eahyqeaekl
      181 rgrplgpvdk yrvrkkfplp rtiwdgeqkt hcfkertrsl lrewylqdpy pnpskkrela
      241 qatgltptqv gnwfknrrqr draaaaknrl qhqaigpsgm rslaepgcpt hgsaespsta
      301 aspttsvssl teradtgtsi lsvtssdsec dv
//
LOCUS       NP_001274119             461 aa            linear   PRI 15-MAR-2023
DEFINITION  ornithine decarboxylase isoform 1 [Homo sapiens].
ACCESSION   NP_001274119 XP_005246222
VERSION     NP_001274119.1
DBSOURCE    REFSEQ: accession NM_001287190.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 461)
  AUTHORS   Keller T, Koepsell H and Groll J.
  TITLE     Evaluation of the Influence of Biosurface Design on the Interaction
            between the Regulatory Peptide RS1-reg and ODC1 Reveals a
            Membrane-Dependent Affinity Increase
  JOURNAL   Adv Biol (Weinh) 6 (10), e2101108 (2022)
   PUBMED   35735188
  REMARK    GeneRIF: Evaluation of the Influence of Biosurface Design on the
            Interaction between the Regulatory Peptide RS1-reg and ODC1 Reveals
            a Membrane-Dependent Affinity Increase.
REFERENCE   2  (residues 1 to 461)
  AUTHORS   Zhou XE, Suino-Powell K, Schultz CR, Aleiwi B, Brunzelle JS, Lamp
            J, Vega IE, Ellsworth E, Bachmann AS and Melcher K.
  TITLE     Structural basis of binding and inhibition of ornithine
            decarboxylase by 1-amino-oxy-3-aminopropane
  JOURNAL   Biochem J 478 (23), 4137-4149 (2021)
   PUBMED   34796899
  REMARK    GeneRIF: Structural basis of binding and inhibition of ornithine
            decarboxylase by 1-amino-oxy-3-aminopropane.
REFERENCE   3  (residues 1 to 461)
  AUTHORS   VanSickle EA, Michael J, Bachmann AS, Rajasekaran S, Prokop JW,
            Kuzniecky R, Hofstede FC, Steindl K, Rauch A, Lipson MH and Bupp
            CP.
  TITLE     Expanding the phenotype: Four new cases and hope for treatment in
            Bachmann-Bupp syndrome
  JOURNAL   Am J Med Genet A 185 (11), 3485-3493 (2021)
   PUBMED   34477286
  REMARK    GeneRIF: Expanding the phenotype: Four new cases and hope for
            treatment in Bachmann-Bupp syndrome.
REFERENCE   4  (residues 1 to 461)
  AUTHORS   Miller AK, Tavera G, Dominguez RL, Camargo MC, Waterboer T, Wilson
            KT, Williams SM and Morgan DR.
  TITLE     Ornithine decarboxylase (ODC1) gene variant (rs2302615) is
            associated with gastric cancer independently of Helicobacter pylori
            CagA serostatus
  JOURNAL   Oncogene 40 (40), 5963-5969 (2021)
   PUBMED   34376808
  REMARK    GeneRIF: Ornithine decarboxylase (ODC1) gene variant (rs2302615) is
            associated with gastric cancer independently of Helicobacter pylori
            CagA serostatus.
REFERENCE   5  (residues 1 to 461)
  AUTHORS   Rajasekaran S, Bupp CP, Leimanis-Laurens M, Shukla A, Russell C,
            Junewick J, Gleason E, VanSickle EA, Edgerly Y, Wittmann BM, Prokop
            JW and Bachmann AS.
  TITLE     Repurposing eflornithine to treat a patient with a rare ODC1
            gain-of-function variant disease
  JOURNAL   Elife 10, e67097 (2021)
   PUBMED   34282722
  REMARK    GeneRIF: Repurposing eflornithine to treat a patient with a rare
            ODC1 gain-of-function variant disease.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 461)
  AUTHORS   Bupp,C., Michael,J., VanSickle,E., Rajasekaran,S. and Bachmann,A.S.
  TITLE     Bachmann-Bupp Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36007106
REFERENCE   7  (residues 1 to 461)
  AUTHORS   Yoshida M, Hayashi H, Taira M and Isono K.
  TITLE     Elevated expression of the ornithine decarboxylase gene in human
            esophageal cancer
  JOURNAL   Cancer Res 52 (23), 6671-6675 (1992)
   PUBMED   1423312
REFERENCE   8  (residues 1 to 461)
  AUTHORS   Moshier JA, Osborne DL, Skunca M, Dosescu J, Gilbert JD, Fitzgerald
            MC, Polidori G, Wagner RL, Friezner Degen SJ, Luk GD et al.
  TITLE     Multiple promoter elements govern expression of the human ornithine
            decarboxylase gene in colon carcinoma cells
  JOURNAL   Nucleic Acids Res 20 (10), 2581-2590 (1992)
   PUBMED   1598217
REFERENCE   9  (residues 1 to 461)
  AUTHORS   Hickok NJ, Wahlfors J, Crozat A, Halmekyto M, Alhonen L, Janne J
            and Janne OA.
  TITLE     Human ornithine decarboxylase-encoding loci: nucleotide sequence of
            the expressed gene and characterization of a pseudogene
  JOURNAL   Gene 93 (2), 257-263 (1990)
   PUBMED   2227439
REFERENCE   10 (residues 1 to 461)
  AUTHORS   Hsieh JT, Denning MF, Heidel SM and Verma AK.
  TITLE     Expression of human chromosome 2 ornithine decarboxylase gene in
            ornithine decarboxylase-deficient Chinese hamster ovary cells
  JOURNAL   Cancer Res 50 (8), 2239-2244 (1990)
   PUBMED   2317811
  REMARK    Erratum:[Cancer Res 1990 Jul 1;50(13):4174]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007249.5, HY044065.1,
            BI463057.1, BC014562.2 and AI277727.1.
            On Dec 6, 2013 this sequence version replaced XP_005246222.1.
            
            Summary: This gene encodes the rate-limiting enzyme of the
            polyamine biosynthesis pathway which catalyzes ornithine to
            putrescine. The activity level for the enzyme varies in response to
            growth-promoting stimuli and exhibits a high turnover rate in
            comparison to other mammalian proteins. Originally localized to
            both chromosomes 2 and 7, the gene encoding this enzyme has been
            determined to be located on 2p25, with a pseudogene located on
            7q31-qter. Multiple alternatively spliced transcript variants
            encoding distinct isoforms have been identified. [provided by
            RefSeq, Dec 2013].
            
            Transcript Variant: This variant (4) has an alternate 5' UTR exon,
            compared to variant 1. Variants 1, 3 and 4 encode the same isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.138048.1,
                                           SRR1803615.144145.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..461
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.1"
     Protein         1..461
                     /product="ornithine decarboxylase isoform 1"
                     /EC_number="4.1.1.17"
                     /calculated_mol_wt=51017
     Region          37..408
                     /region_name="PLPDE_III_ODC"
                     /note="Type III Pyridoxal 5-phosphate (PLP)-Dependent
                     Enzyme Ornithine Decarboxylase; cd00622"
                     /db_xref="CDD:143482"
     Site            order(38,69,90..91,93..94,116,121,134,137,141,168..170,
                     291,293..294,315,317,319,322..323,331,333,357,359,361,364,
                     393,395,397..399,401)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143482"
     Site            order(67,69,88,154,197,200,236..237,274..277,332,360,389)
                     /site_type="active"
                     /db_xref="CDD:143482"
     Site            order(67,69,88,154,197,200,236..237,274..277,360,389)
                     /site_type="other"
                     /note="pyridoxal 5'-phosphate (PLP) binding site [chemical
                     binding]"
                     /db_xref="CDD:143482"
     Site            order(69,360)
                     /site_type="active"
                     /note="catalytic residues [active]"
                     /db_xref="CDD:143482"
     Site            197
                     /site_type="other"
                     /note="Stacks against the aromatic ring of pyridoxal
                     phosphate and stabilizes reaction intermediates.
                     /evidence=ECO:0000250|UniProtKB:P00860; propagated from
                     UniProtKB/Swiss-Prot (P11926.2)"
     Site            303
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000250|UniProtKB:P00860; propagated from
                     UniProtKB/Swiss-Prot (P11926.2)"
     Site            order(331..332,360..361,389,397)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:143482"
     CDS             1..461
                     /gene="ODC1"
                     /gene_synonym="BABS; NEDBA; NEDBIA; ODC"
                     /coded_by="NM_001287190.2:513..1898"
                     /note="isoform 1 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS1672.1"
                     /db_xref="GeneID:4953"
                     /db_xref="HGNC:HGNC:8109"
                     /db_xref="MIM:165640"
ORIGIN      
        1 mnnfgneefd chfldegfta kdildqkine vsssddkdaf yvadlgdilk khlrwlkalp
       61 rvtpfyavkc ndskaivktl aatgtgfdca skteiqlvqs lgvpperiiy anpckqvsqi
      121 kyaanngvqm mtfdsevelm kvarahpkak lvlriatdds kavcrlsvkf gatlrtsrll
      181 lerakelnid vvgvsfhvgs gctdpetfvq aisdarcvfd mgaevgfsmy lldigggfpg
      241 sedvklkfee itgvinpald kyfpsdsgvr iiaepgryyv asaftlavni iakkivlkeq
      301 tgsddedess eqtfmyyvnd gvygsfncil ydhahvkpll qkrpkpdeky ysssiwgptc
      361 dgldriverc dlpemhvgdw mlfenmgayt vaaastfngf qrptiyyvms gpawqlmqqf
      421 qnpdfppeve eqdastlpvs cawesgmkrh raacasasin v
//
LOCUS       NP_001157289             475 aa            linear   PRI 15-MAR-2023
DEFINITION  7-dehydrocholesterol reductase [Homo sapiens].
ACCESSION   NP_001157289
VERSION     NP_001157289.1
DBSOURCE    REFSEQ: accession NM_001163817.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 475)
  AUTHORS   Chen W, Li Y, Yu X, Wang Z, Wang W, Rao M, Li Y, Luo Z, Zhang Q,
            Liu J and Wu J.
  TITLE     Zika virus non-structural protein 4B interacts with DHCR7 to
            facilitate viral infection
  JOURNAL   Virol Sin 38 (1), 23-33 (2023)
   PUBMED   36182074
  REMARK    GeneRIF: Zika virus non-structural protein 4B interacts with DHCR7
            to facilitate viral infection.
REFERENCE   2  (residues 1 to 475)
  AUTHORS   Chen Y, Yan W, Yang K, Qian Y, Chen Y, Wang R, Zhu J, He Y, Wu H,
            Zhang G, Shi T and Chen W.
  TITLE     Integrated multi-dimensional analysis highlights DHCR7 mutations
            involving in cholesterol biosynthesis and contributing therapy of
            gastric cancer
  JOURNAL   J Exp Clin Cancer Res 42 (1), 36 (2023)
   PUBMED   36710342
  REMARK    GeneRIF: Integrated multi-dimensional analysis highlights DHCR7
            mutations involving in cholesterol biosynthesis and contributing
            therapy of gastric cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 475)
  AUTHORS   Zou J, Liu S, Long J and Yan B.
  TITLE     High DHCR7 Expression Predicts Poor Prognosis for Cervical Cancer
  JOURNAL   Comput Math Methods Med 2022, 8383885 (2022)
   PUBMED   36164611
  REMARK    GeneRIF: High DHCR7 Expression Predicts Poor Prognosis for Cervical
            Cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 475)
  AUTHORS   Wen J, Li J, Liang X and Wang A.
  TITLE     Association of Polymorphisms in Vitamin D-Metabolizing Enzymes
            DHCR7 and CYP2R1 with Cancer Susceptibility: A Systematic Review
            and Meta-Analysis
  JOURNAL   Dis Markers 2021, 6615001 (2021)
   PUBMED   34093899
  REMARK    GeneRIF: Association of Polymorphisms in Vitamin D-Metabolizing
            Enzymes DHCR7 and CYP2R1 with Cancer Susceptibility: A Systematic
            Review and Meta-Analysis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 475)
  AUTHORS   Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK,
            Glossmann H, Utermann G and Moebius FF.
  TITLE     Mutations in the Delta7-sterol reductase gene in patients with the
            Smith-Lemli-Opitz syndrome
  JOURNAL   Proc Natl Acad Sci U S A 95 (14), 8181-8186 (1998)
   PUBMED   9653161
REFERENCE   6  (residues 1 to 475)
  AUTHORS   Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor
            WE, Steiner RD and Porter FD.
  TITLE     Mutations in the human sterol delta7-reductase gene at 11q12-13
            cause Smith-Lemli-Opitz syndrome
  JOURNAL   Am J Hum Genet 63 (1), 55-62 (1998)
   PUBMED   9634533
REFERENCE   7  (residues 1 to 475)
  AUTHORS   Moebius FF, Fitzky BU, Lee JN, Paik YK and Glossmann H.
  TITLE     Molecular cloning and expression of the human delta7-sterol
            reductase
  JOURNAL   Proc Natl Acad Sci U S A 95 (4), 1899-1902 (1998)
   PUBMED   9465114
REFERENCE   8  (residues 1 to 475)
  AUTHORS   Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER,
            Chen TC and Holick MF.
  TITLE     Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity
            in liver microsomes from Smith-Lemli-Opitz homozygotes
  JOURNAL   J Clin Invest 96 (4), 1779-1785 (1995)
   PUBMED   7560069
REFERENCE   9  (residues 1 to 475)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301612
REFERENCE   10 (residues 1 to 475)
  AUTHORS   Nowaczyk,M.J.M. and Wassif,C.A.
  TITLE     Smith-Lemli-Opitz Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301322
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA502590.1, AP002387.4 and
            AI888720.1.
            
            Summary: This gene encodes an enzyme that removes the C(7-8) double
            bond in the B ring of sterols and catalyzes the conversion of
            7-dehydrocholesterol to cholesterol. This gene is ubiquitously
            expressed and its transmembrane protein localizes to the
            endoplasmic reticulum membrane and nuclear outer membrane.
            Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a
            syndrome that is metabolically characterized by reduced serum
            cholesterol levels and elevated serum 7-dehydrocholesterol levels
            and phenotypically characterized by cognitive disability, facial
            dysmorphism, syndactyly of second and third toes, and
            holoprosencephaly in severe cases to minimal physical abnormalities
            and near-normal intelligence in mild cases. Alternative splicing
            results in multiple transcript variants that encode the same
            protein.[provided by RefSeq, Aug 2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.236162.1,
                                           SRR1803615.119978.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145544
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..475
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..475
                     /product="7-dehydrocholesterol reductase"
                     /EC_number="1.3.1.21"
                     /note="sterol delta-7-reductase;
                     delta-7-dehydrocholesterol reductase; 7-DHC reductase;
                     putative sterol reductase SR-2; delta7-sterol reductase"
                     /calculated_mol_wt=54359
     Region          1..21
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBM7.1)"
     Site            14
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9UBM7.1)"
     Site            40..60
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBM7.1)"
     Region          93..475
                     /region_name="PEMT"
                     /note="Phospholipid methyltransferase; cl21511"
                     /db_xref="CDD:451282"
     Site            154..174
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBM7.1)"
     Site            177..197
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBM7.1)"
     Site            266..286
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBM7.1)"
     Site            306..326
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBM7.1)"
     Site            331..351
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBM7.1)"
     Site            420..440
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBM7.1)"
     CDS             1..475
                     /gene="DHCR7"
                     /gene_synonym="SLOS"
                     /coded_by="NM_001163817.2:213..1640"
                     /db_xref="CCDS:CCDS8200.1"
                     /db_xref="GeneID:1717"
                     /db_xref="HGNC:HGNC:2860"
                     /db_xref="MIM:602858"
ORIGIN      
        1 maaksqpnip kaksldgvtn drtasqgqwg rawevdwfsl asviflllfa pfivyyfima
       61 cdqyscaltg pvvdivtgha rlsdiwaktp pitrkaaqly tlwvtfqvll ytslpdfchk
      121 flpgyvggiq egavtpagvv nkyqinglqa wllthllwfa nahllswfsp tiifdnwipl
      181 lwcanilgya vstfamvkgy ffptsardck ftgnffynym mgiefnprig kwfdfklffn
      241 grpgivawtl inlsfaakqr elhshvtnam vlvnvlqaiy vidffwnetw ylktidichd
      301 hfgwylgwgd cvwlpylytl qglylvyhpv qlstphavgv lllglvgyyi frvanhqkdl
      361 frrtdgrcli wgrkpkviec sytsadgqrh hskllvsgfw gvarhfnyvg dlmgslaycl
      421 acggghllpy fyiiymaill thrclrdehr caskygrdwe rytaavpyrl lpgif
//
LOCUS       NP_001005463             551 aa            linear   PRI 15-MAR-2023
DEFINITION  transcription factor COE3 isoform 6 [Homo sapiens].
ACCESSION   NP_001005463 XP_171410
VERSION     NP_001005463.1
DBSOURCE    REFSEQ: accession NM_001005463.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 551)
  AUTHORS   Deisseroth CA, Lerma VC, Magyar CL, Pfliger JM, Nayak A, Bliss ND,
            LeMaire AW, Narayanan V, Balak C, Zanni G, Valente EM, Bertini E,
            Benke PJ, Wangler MF and Chao HT.
  TITLE     An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk
            Subtype Association for EBF3 Missense Variants Affecting the Zinc
            Finger Domain
  JOURNAL   Ann Neurol 92 (1), 138-153 (2022)
   PUBMED   35340043
  REMARK    GeneRIF: An Integrated Phenotypic and Genotypic Approach Reveals a
            High-Risk Subtype Association for EBF3 Missense Variants Affecting
            the Zinc Finger Domain.
REFERENCE   2  (residues 1 to 551)
  AUTHORS   Ignatius E, Puosi R, Palomaki M, Forsbom N, Pohjanpelto M, Alitalo
            T, Anttonen AK, Avela K, Haataja L, Carroll CJ, Lonnqvist T and
            Isohanni P.
  TITLE     Duplication/triplication mosaicism of EBF3 and expansion of the
            EBF3 neurodevelopmental disorder phenotype
  JOURNAL   Eur J Paediatr Neurol 37, 1-7 (2022)
   PUBMED   34999443
  REMARK    GeneRIF: Duplication/triplication mosaicism of EBF3 and expansion
            of the EBF3 neurodevelopmental disorder phenotype.
REFERENCE   3  (residues 1 to 551)
  AUTHORS   Padhi EM, Hayeck TJ, Cheng Z, Chatterjee S, Mannion BJ,
            Byrska-Bishop M, Willems M, Pinson L, Redon S, Benech C, Uguen K,
            Audebert-Bellanger S, Le Marechal C, Ferec C, Efthymiou S, Rahman
            F, Maqbool S, Maroofian R, Houlden H, Musunuri R, Narzisi G,
            Abhyankar A, Hunter RD, Akiyama J, Fries LE, Ng JK, Mehinovic E,
            Stong N, Allen AS, Dickel DE, Bernier RA, Gorkin DU, Pennacchio LA,
            Zody MC and Turner TN.
  TITLE     Coding and noncoding variants in EBF3 are involved in HADDS and
            simplex autism
  JOURNAL   Hum Genomics 15 (1), 44 (2021)
   PUBMED   34256850
  REMARK    GeneRIF: Coding and noncoding variants in EBF3 are involved in
            HADDS and simplex autism.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 551)
  AUTHORS   Kim J, Min SY, Lee HE and Kim WH.
  TITLE     Aberrant DNA methylation and tumor suppressive activity of the EBF3
            gene in gastric carcinoma
  JOURNAL   Int J Cancer 130 (4), 817-826 (2012)
   PUBMED   21387304
  REMARK    GeneRIF: EBF3 tumor suppressor is epigenetically silenced and that
            it serves as an independent prognostic marker in gastric carcinoma.
REFERENCE   5  (residues 1 to 551)
  AUTHORS   Liao D.
  TITLE     Emerging roles of the EBF family of transcription factors in tumor
            suppression
  JOURNAL   Mol Cancer Res 7 (12), 1893-1901 (2009)
   PUBMED   19996307
  REMARK    Review article
REFERENCE   6  (residues 1 to 551)
  AUTHORS   Mao LP, Wang HM, Wang YG and Wang XY.
  TITLE     [Construction of eukaryotic expression vector for EBF3 and EGFP
            fusion protein and its expression in HepG2 cells]
  JOURNAL   Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 24 (10), 954-957 (2008)
   PUBMED   18845077
  REMARK    GeneRIF: Findings suggested that the transfection of EBF3 gene into
            HepG2 induced the cell proliferation from G1 phase to G2 phase by
            increasing the number of cells.
REFERENCE   7  (residues 1 to 551)
  AUTHORS   Bennett KL, Karpenko M, Lin MT, Claus R, Arab K, Dyckhoff G,
            Plinkert P, Herpel E, Smiraglia D and Plass C.
  TITLE     Frequently methylated tumor suppressor genes in head and neck
            squamous cell carcinoma
  JOURNAL   Cancer Res 68 (12), 4494-4499 (2008)
   PUBMED   18559491
  REMARK    GeneRIF: Frequent methylation of EBF3 gene is associated with head
            and neck squamous cell carcinoma
REFERENCE   8  (residues 1 to 551)
  AUTHORS   Zhao LY, Niu Y, Santiago A, Liu J, Albert SH, Robertson KD and Liao
            D.
  TITLE     An EBF3-mediated transcriptional program that induces cell cycle
            arrest and apoptosis
  JOURNAL   Cancer Res 66 (19), 9445-9452 (2006)
   PUBMED   17018599
  REMARK    GeneRIF: Expression of EBF3 resulted in cell cycle arrest and
            apoptosis. EBF3 regulates a transcriptional program underlying a
            putative tumor suppression pathway.
REFERENCE   9  (residues 1 to 551)
  AUTHORS   Zardo G, Tiirikainen MI, Hong C, Misra A, Feuerstein BG, Volik S,
            Collins CC, Lamborn KR, Bollen A, Pinkel D, Albertson DG and
            Costello JF.
  TITLE     Integrated genomic and epigenomic analyses pinpoint biallelic gene
            inactivation in tumors
  JOURNAL   Nat Genet 32 (3), 453-458 (2002)
   PUBMED   12355068
REFERENCE   10 (residues 1 to 551)
  AUTHORS   Narayanan,D.L., Kutsche,K. and Girisha,K.M.
  TITLE     EBF3 Neurodevelopmental Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   33956416
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354950.8, AK097335.1,
            BC130479.1, AL713797.1, AK098025.1, AK055710.1 and AA330620.1.
            On Oct 7, 2004 this sequence version replaced XP_171410.3.
            
            Summary: This gene encodes a member of the early B-cell factor
            (EBF) family of DNA binding transcription factors. EBF proteins are
            involved in B-cell differentiation, bone development and
            neurogenesis, and may also function as tumor suppressors. The
            encoded protein inhibits cell survival through the regulation of
            genes involved in cell cycle arrest and apoptosis, and aberrant
            methylation or deletion of this gene may play a role in multiple
            malignancies including glioblastoma multiforme and gastric
            carcinoma. [provided by RefSeq, Sep 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL832828.1, BC130479.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.3"
     Protein         1..551
                     /product="transcription factor COE3 isoform 6"
                     /note="transcription factor COE3; olf-1/EBF-like 2; early
                     B cell factor 3"
                     /calculated_mol_wt=60284
     Region          21..247
                     /region_name="COE1_DBD"
                     /note="Transcription factor COE1 DNA-binding domain;
                     pfam16422"
                     /db_xref="CDD:435333"
     Site            order(63..67,157,160..163,169..172,174,197,199,201..205,
                     233,235..240)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:212156"
     Site            order(157,161,164,170)
                     /site_type="other"
                     /note="Zinc binding site [ion binding]"
                     /db_xref="CDD:212156"
     Region          254..338
                     /region_name="IPT_COE"
                     /note="IPT domain of the COE family (Col/Olf-1/EBF) of
                     non-basic, helix-loop-helix (HLH)-containing transcription
                     factors. COE family proteins are all transcription factors
                     and play an important role in variety of developmental
                     processes. Mouse EBF is involved...; cd01175"
                     /db_xref="CDD:238580"
     Region          339..382
                     /region_name="COE1_HLH"
                     /note="Transcription factor COE1 helix-loop-helix domain;
                     pfam16423"
                     /db_xref="CDD:406751"
     CDS             1..551
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /coded_by="NM_001005463.3:507..2162"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS31314.1"
                     /db_xref="GeneID:253738"
                     /db_xref="HGNC:HGNC:19087"
                     /db_xref="MIM:607407"
ORIGIN      
        1 mfgiqenipr ggttmkeepl gsgmnpvrsw mhtagvvdan taaqsgvgla rahfekqpps
       61 nlrksnffhf vlalydrqgq pveiertafv dfvekekepn nektnngihy klqllysngv
      121 rteqdlyvrl idsmtkqaiv yegqdknpem crvlltheim csrccdkksc gnrnetpsdp
      181 viidrfflkf flkcnqnclk nagnprdmrr fqvvvsttvn vdghvlavsd nmfvhnnskh
      241 grrarrldps eatpcikais psegwttgga tviiigdnff dglqvvfgtm lvwselitph
      301 airvqtpprh ipgvvevtls ykskqfckga pgrfvytaln eptidygfqr lqkviprhpg
      361 dperlpkevl lkraadlvea lygmphnnqe iilkraadia ealysvprnh nqiptlgnnp
      421 ahtgmmgvns fssqlavnvs etsqandqvg ysrntssvsp rgyvpsstpq qsnyntvsts
      481 mngygsgama slgvpgspgf lngssanspy gmkqksafap vvrpqasppp sctsangngl
      541 qamsglvvpp m
//
LOCUS       NP_116141                587 aa            linear   PRI 16-MAR-2023
DEFINITION  zinc finger protein 496 isoform 1 [Homo sapiens].
ACCESSION   NP_116141 XP_005273387
VERSION     NP_116141.1
DBSOURCE    REFSEQ: accession NM_032752.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 587)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 587)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 587)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 587)
  AUTHORS   Wang J, Zhang X, Ling J, Wang Y, Xu X, Liu Y, Jin C, Ju J, Yuan Y,
            He F, Zhao C, Wang J and Tian C.
  TITLE     KRAB-containing zinc finger protein ZNF496 inhibits breast cancer
            cell proliferation by selectively repressing ERalpha activity
  JOURNAL   Biochim Biophys Acta Gene Regul Mech (2018) In press
   PUBMED   30012466
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   5  (residues 1 to 587)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (residues 1 to 587)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   7  (residues 1 to 587)
  AUTHORS   Losson R and Nielsen AL.
  TITLE     The NIZP1 KRAB and C2HR domains cross-talk for transcriptional
            regulation
  JOURNAL   Biochim Biophys Acta 1799 (5-6), 463-468 (2010)
   PUBMED   20176155
  REMARK    GeneRIF: the Nizp1 KRAB-domain was identified to possess an
            intrinsic transcriptional activation capacity suppressed in cis by
            the presence of the C2HR domain
REFERENCE   8  (residues 1 to 587)
  AUTHORS   Nielsen AL, Jorgensen P, Lerouge T, Cervino M, Chambon P and Losson
            R.
  TITLE     Nizp1, a novel multitype zinc finger protein that interacts with
            the NSD1 histone lysine methyltransferase through a unique C2HR
            motif
  JOURNAL   Mol Cell Biol 24 (12), 5184-5196 (2004)
   PUBMED   15169884
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY023128.1, BC007263.1, BC025794.1, AC104335.2 and BU740940.1.
            On Jul 27, 2016 this sequence version replaced XP_005273387.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.612427.1,
                                           SRR14038193.2446725.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000682384.1/ ENSP00000507236.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..587
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     Protein         1..587
                     /product="zinc finger protein 496 isoform 1"
                     /note="NSD1 (nuclear receptor binding SET-domain
                     containing 1)-interacting zinc finger protein 1; zinc
                     finger protein with KRAB and SCAN domains 17"
                     /calculated_mol_wt=66777
     Region          1..40
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96IT1.1)"
     Region          50..148
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Site            185
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336; propagated from
                     UniProtKB/Swiss-Prot (Q96IT1.1)"
     Region          222..259
                     /region_name="KRAB_A-box"
                     /note="KRAB (Kruppel-associated box) domain -A box;
                     cd07765"
                     /db_xref="CDD:143639"
     Region          260..282
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96IT1.1)"
     Site            299
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q96IT1.1)"
     Region          358..399
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96IT1.1)"
     Region          408..428
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(413,415,417,419..420,423..424,427,442,444,448..449,
                     452..453,456,470,472,474,476..477,480..481,484)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          437..457
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          463..485
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          465..485
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          488..513
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96IT1.1)"
     Region          522..543
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          524..543
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          553..575
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          555..575
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..587
                     /gene="ZNF496"
                     /gene_synonym="NIZP1; ZFP496; ZKSCAN17; ZSCAN49"
                     /coded_by="NM_032752.3:448..2211"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1631.1"
                     /db_xref="GeneID:84838"
                     /db_xref="HGNC:HGNC:23713"
                     /db_xref="MIM:613911"
ORIGIN      
        1 mptalcprvl apkeseeprk mrsppgenps pqgelpspes srrlfrrfry qeaagpreal
       61 qrlwdlcggw lrperhtkeq ilellvleqf lailpreiqs wvraqepesg eqavaaveal
      121 erepgrpwqw lkhcedpvvi ddgdspldqe qeqlpvephs dlaknqdaqp itlaqclglp
      181 srppsqlsgd pvlqdafllq eenvrdtqqv ttlqlppsrv spfkdmilcf seedwslldp
      241 aqtgfygefi igedygvsmp pndlaaqpdl sqgeeneprv pelqdlqgke vpqvsyldsp
      301 slqpfqveer rkreelqvpe fqacpqtvvp qntypaggnp rslensldee vtieivlsss
      361 gdedsqhgpy cteelgspte kqrslpashr ssteaggevq tskksyvcpn cgkifrwrvn
      421 firhlrsrre qekphecsvc gelfsdsedl dghlesheaq kpyrcgacgk sfrlnshlls
      481 hrrihlqpdr lqpvekreqa asedadkgpk eplengkakl sfqccecgka fqrhdhlarh
      541 rshfhlkdka rpfqcrycvk sftqnydllr herlhmkrrs kqalnsy
//
LOCUS       NP_001303241             195 aa            linear   PRI 19-MAR-2023
DEFINITION  integrin alpha-4 isoform 2 precursor [Homo sapiens].
ACCESSION   NP_001303241
VERSION     NP_001303241.1
DBSOURCE    REFSEQ: accession NM_001316312.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 195)
  AUTHORS   Elizabeth S, Aidan K, David OB, Deirdre W, Sarah B, Emer A, Kanthi
            P, Crotty GM, Aileen W, Michelle C, Ruth C, Hilary O, Ashique K,
            Bacon CL, Emily S, McElligott AM, Fiona Q, Elisabeth V and Carmel
            W.
  TITLE     Low CD49d expression in newly diagnosed chronic lymphocytic
            leukaemia may be associated with high-risk features and reduced
            treatment-free-intervals
  JOURNAL   Eur J Haematol 109 (5), 441-446 (2022)
   PUBMED   35776688
  REMARK    GeneRIF: Low CD49d expression in newly diagnosed chronic
            lymphocytic leukaemia may be associated with high-risk features and
            reduced treatment-free-intervals.
REFERENCE   2  (residues 1 to 195)
  AUTHORS   Zhu J, Liu L, Chen X, Liu F, Zhao SS, Jin HM, Qiu HR, Qiao C, Li JY
            and Wu YJ.
  TITLE     [The correlation of CD49d expression pattern with molecular
            genetics and hotspot gene mutants in patients with chronic
            lymphocytic leukemia]
  JOURNAL   Zhonghua Xue Ye Xue Za Zhi 43 (6), 463-468 (2022)
   PUBMED   35968588
  REMARK    GeneRIF: [The correlation of CD49d expression pattern with
            molecular genetics and hotspot gene mutants in patients with
            chronic lymphocytic leukemia].
REFERENCE   3  (residues 1 to 195)
  AUTHORS   Tissino E, Pivetta E, Capuano A, Capasso G, Bomben R, Caldana C,
            Rossi FM, Pozzo F, Benedetti D, Boldorini R, Gaidano G, Rossi D,
            Zamo A, Hartmann TN, Doliana R, Colombatti A, Gattei V, Spessotto P
            and Zucchetto A.
  TITLE     Elastin MIcrofibriL INterfacer1 (EMILIN-1) is an alternative
            prosurvival VLA-4 ligand in chronic lymphocytic leukemia
  JOURNAL   Hematol Oncol 40 (2), 181-190 (2022)
   PUBMED   34783040
  REMARK    GeneRIF: Elastin MIcrofibriL INterfacer1 (EMILIN-1) is an
            alternative prosurvival VLA-4 ligand in chronic lymphocytic
            leukemia.
REFERENCE   4  (residues 1 to 195)
  AUTHORS   Berbert LR, Gonzalez FB, Villar SR, Vigliano C, Lioi S, Beloscar J,
            Bottasso OA, Silva-Barbosa SD, Savino W and Perez AR.
  TITLE     Enhanced Migratory Capacity of T Lymphocytes in Severe Chagasic
            Patients Is Correlated With VLA-4 and TNF-alpha Expression
  JOURNAL   Front Cell Infect Microbiol 11, 713150 (2021)
   PUBMED   34796122
  REMARK    GeneRIF: Enhanced Migratory Capacity of T Lymphocytes in Severe
            Chagasic Patients Is Correlated With VLA-4 and TNF-alpha
            Expression.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 195)
  AUTHORS   Shishido S, Bonig H and Kim YM.
  TITLE     Role of integrin alpha4 in drug resistance of leukemia
  JOURNAL   Front Oncol 4, 99 (2014)
   PUBMED   24904821
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 195)
  AUTHORS   Rubio M, Nueda A, Vara A and Corbi Lopez AL.
  TITLE     A single mRNA encodes the alpha 150 and alpha 80/70 forms of the
            alpha subunit of VLA4
  JOURNAL   Eur J Immunol 22 (4), 1099-1102 (1992)
   PUBMED   1551405
REFERENCE   7  (residues 1 to 195)
  AUTHORS   Parker CM, Cepek KL, Russell GJ, Shaw SK, Posnett DN, Schwarting R
            and Brenner MB.
  TITLE     A family of beta 7 integrins on human mucosal lymphocytes
  JOURNAL   Proc Natl Acad Sci U S A 89 (5), 1924-1928 (1992)
   PUBMED   1542691
REFERENCE   8  (residues 1 to 195)
  AUTHORS   Fernandez-Ruiz E, Pardo-Manuel de Villena F, Rubio MA, Corbi AL,
            Rodriguez de Cordoba S and Sanchez-Madrid F.
  TITLE     Mapping of the human VLA-alpha 4 gene to chromosome 2q31-q32
  JOURNAL   Eur J Immunol 22 (2), 587-590 (1992)
   PUBMED   1537388
REFERENCE   9  (residues 1 to 195)
  AUTHORS   Ryan DH, Nuccie BL, Abboud CN and Winslow JM.
  TITLE     Vascular cell adhesion molecule-1 and the integrin VLA-4 mediate
            adhesion of human B cell precursors to cultured bone marrow
            adherent cells
  JOURNAL   J Clin Invest 88 (3), 995-1004 (1991)
   PUBMED   1715889
REFERENCE   10 (residues 1 to 195)
  AUTHORS   Takada Y, Elices MJ, Crouse C and Hemler ME.
  TITLE     The primary structure of the alpha 4 subunit of VLA-4: homology to
            other integrins and a possible cell-cell adhesion function
  JOURNAL   EMBO J 8 (5), 1361-1368 (1989)
   PUBMED   2788572
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB114726.1, BC055419.1 and
            AC020595.7.
            
            Summary: The gene encodes a member of the integrin alpha chain
            family of proteins. Integrins are heterodimeric integral membrane
            proteins composed of an alpha chain and a beta chain that function
            in cell surface adhesion and signaling. The encoded preproprotein
            is proteolytically processed to generate light and heavy chains
            that comprise the alpha 4 subunit. This subunit associates with a
            beta 1 or beta 7 subunit to form an integrin that may play a role
            in cell motility and migration. This integrin is a therapeutic
            target for the treatment of multiple sclerosis, Crohn's disease and
            inflammatory bowel disease. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Oct 2015].
            
            Transcript Variant: This variant (2) contains an alternate 3'
            terminal exon, which results in a frameshift and an early stop
            codon, compared to variant 1. The encoded isoform (2) is shorter
            and has a distinct C-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.2434122.1, BC055419.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162823, SAMEA2163105
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..195
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.3"
     Protein         1..195
                     /product="integrin alpha-4 isoform 2 precursor"
                     /note="antigen CD49D, alpha-4 subunit of VLA-4 receptor;
                     very late activation protein 4 receptor, alpha 4 subunit;
                     269C wild type; integrin alpha-IV; VLA-4 subunit alpha;
                     CD49 antigen-like family member D; alpha 4 subunit of
                     VLA-4 receptor"
                     /calculated_mol_wt=17863
     sig_peptide     1..33
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3690
     Region          48..105
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     CDS             1..195
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /coded_by="NM_001316312.2:451..1038"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS82540.1"
                     /db_xref="GeneID:3676"
                     /db_xref="HGNC:HGNC:6140"
                     /db_xref="MIM:192975"
ORIGIN      
        1 mawearrepg prraavretv mlllclgvpt grpynvdtes allyqgphnt lfgysvvlhs
       61 hganrwllvg aptanwlana svinpgaiyr crigknpgqt ceqlqlgspn gepcgktcle
      121 erdnqwlgvt lsrqpgengs ivtcghrwkn ifyiknenkl ptggcygvpp dlrtelskri
      181 apcyqgsisk yrart
//
LOCUS       NP_001287656             513 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase DTX4 isoform 2 [Homo sapiens].
ACCESSION   NP_001287656
VERSION     NP_001287656.1
DBSOURCE    REFSEQ: accession NM_001300727.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 513)
  AUTHORS   Kodani A, Knopp KA, Di Lullo E, Retallack H, Kriegstein AR, DeRisi
            JL and Reiter JF.
  TITLE     Zika virus alters centrosome organization to suppress the innate
            immune response
  JOURNAL   EMBO Rep 23 (9), e52211 (2022)
   PUBMED   35793002
REFERENCE   2  (residues 1 to 513)
  AUTHORS   Chastagner P, Rubinstein E and Brou C.
  TITLE     Ligand-activated Notch undergoes DTX4-mediated ubiquitylation and
            bilateral endocytosis before ADAM10 processing
  JOURNAL   Sci Signal 10 (483) (2017)
   PUBMED   28611181
  REMARK    GeneRIF: Notch is ligand activated and undergoes DTX4-mediated
            ubiquitylation and bilateral endocytosis before ADAM10 processing
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 513)
  AUTHORS   Cui J, Li Y, Zhu L, Liu D, Songyang Z, Wang HY and Wang RF.
  TITLE     NLRP4 negatively regulates type I interferon signaling by targeting
            the kinase TBK1 for degradation via the ubiquitin ligase DTX4
  JOURNAL   Nat Immunol 13 (4), 387-395 (2012)
   PUBMED   22388039
  REMARK    GeneRIF: Our results provide molecular insight into the mechanisms
            by which NLRP4-DTX4 targets TBK1 for degradation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 513)
  AUTHORS   Storck S, Delbos F, Stadler N, Thirion-Delalande C, Bernex F,
            Verthuy C, Ferrier P, Weill JC and Reynaud CA.
  TITLE     Normal immune system development in mice lacking the Deltex-1 RING
            finger domain
  JOURNAL   Mol Cell Biol 25 (4), 1437-1445 (2005)
   PUBMED   15684394
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC119011.1 and AP002358.3.
            
            Transcript Variant: This variant (2) has an alternate exon in place
            of the first exon compared to variant 1. The resulting isoform (2)
            is shorter at the N-terminus compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC122861.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..513
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     Protein         1..513
                     /product="E3 ubiquitin-protein ligase DTX4 isoform 2"
                     /EC_number="2.3.2.27"
                     /note="protein deltex-4; deltex4; RING finger protein 155;
                     deltex 4 homolog; deltex 4, E3 ubiquitin ligase; E3
                     ubiquitin-protein ligase DTX4; deltex homolog 4; RING-type
                     E3 ubiquitin transferase DTX4"
                     /calculated_mol_wt=55153
     Region          <1..38
                     /region_name="WWE"
                     /note="WWE domain; pfam02825"
                     /db_xref="CDD:427006"
     Region          <63..259
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          300..366
                     /region_name="RING-H2_DTX1_4"
                     /note="RING finger, H2 subclass, found in E3
                     ubiquitin-protein ligase deltex1 (DTX1), deltex4 (DTX4),
                     and similar proteins; cd16671"
                     /db_xref="CDD:438333"
     Region          369..503
                     /region_name="DTC"
                     /note="Deltex C-terminal domain; pfam18102"
                     /db_xref="CDD:436275"
     Site            order(378..382,384,396,398,400..402,423..425,427,461,
                     474..475,483)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:193607"
     CDS             1..513
                     /gene="DTX4"
                     /gene_synonym="RNF155"
                     /coded_by="NM_001300727.2:167..1708"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS76408.1"
                     /db_xref="GeneID:23220"
                     /db_xref="HGNC:HGNC:29151"
                     /db_xref="MIM:616110"
ORIGIN      
        1 mevgitiqha yekqhpwidl tsigfsyvid fntmgqinrq tqrqrrvrrr ldliypmvtg
       61 tlpkaqswpv spgpatsppm spcscpqcvl vmsvkaavvn gstgplqlpv trknmpppgv
      121 vklpplpgsg akpldstgti rgplktapsq virrqassmp tgttmgspas ppgpnsktgr
      181 valatlnrtn lqrlaiaqsr vliasgvptv pvknlngssp vnpalagitg ilmsaaglpv
      241 cltrppklvl hpppvsksei ksipgvsnts rkttkkqakk gktpeevlkk ylqkvrhppd
      301 edcticmerl tapsgykgpq ptvkpdlvgk lsrcghvyhi yclvamynng nkdgslqcpt
      361 cktiygvktg tqppgkmeyh liphslpghp dcktiriiys ippgiqgpeh pnpgksfsar
      421 gfprhcylpd sekgrkvlkl llvawdrrli faigtssttg esdtviwnev hhktefgsnl
      481 tghgypdany ldnvlaelaa qgisedstaq ekd
//
LOCUS       XP_011540818             284 aa            linear   PRI 20-MAR-2023
DEFINITION  spermatogenesis-associated protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_011540818
VERSION     XP_011540818.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011542516.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..284
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..284
                     /product="spermatogenesis-associated protein 1 isoform X4"
                     /calculated_mol_wt=31912
     CDS             1..284
                     /gene="SPATA1"
                     /gene_synonym="SP-2; SPAP1"
                     /coded_by="XM_011542516.2:105..959"
                     /db_xref="GeneID:100505741"
                     /db_xref="HGNC:HGNC:14682"
ORIGIN      
        1 mkkdkkrnki pidnypiqtl vnmslnpsrp ssselvelhv fyvpegswny klntistevv
       61 nkfisagflr vspqltlral rerlgeflge daiaekflfl kcignnlavv kekqeselkl
      121 ksfappyalq pelyllpvmd hlgnvyspst vilderqtnn gvneadgtih rpisvtlfke
      181 elgrdpslle ntlkelpnkn qeeaggkata eksqiaknqi gnselpgsle dsnndcfgtk
      241 ksvfgkmkmi qlsvedrtir qlkkstspyq itlhflvnlf flqe
//
LOCUS       XP_047304160            1500 aa            linear   PRI 20-MAR-2023
DEFINITION  multiple epidermal growth factor-like domains protein 6 isoform X3
            [Homo sapiens].
ACCESSION   XP_047304160
VERSION     XP_047304160.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448204.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1500
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1500
                     /product="multiple epidermal growth factor-like domains
                     protein 6 isoform X3"
                     /calculated_mol_wt=156463
     Region          45..116
                     /region_name="EMI"
                     /note="EMI domain; pfam07546"
                     /db_xref="CDD:429530"
     Region          165..201
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          226..247
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          <239..281
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Region          294..329
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          <369..408
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     CDS             1..1500
                     /gene="MEGF6"
                     /gene_synonym="EGFL3"
                     /coded_by="XM_047448204.1:241..4743"
                     /db_xref="GeneID:1953"
                     /db_xref="HGNC:HGNC:3232"
                     /db_xref="MIM:604266"
ORIGIN      
        1 msfleearaa gravvlalvl lllpavpvga svpprpllpl qpgmphvcae qeltlvgrrq
       61 pcvqalshtv pvwkagcgwq awcvgherrt vyymgyrqvy tteartvlrc crgwmqqpde
      121 egclsaecsa slcfhggrcv pgsaqpchcp pgfqgprcqy ainscalgng gcqhhcvqlt
      181 itrhrcqcrp gfqlqedgrh cvrrspcanr ngscmhrcqv vrglarcech vgyqlaadgk
      241 acedvdecaa glaqcahgcl ntqgsfkcvc hagyelgadg rqcyriemei vnsceanngg
      301 cshgcshtsa gplctcprgy eldtdqrtci dvddcadspc cqqvctnnpg gyecgcyagy
      361 rlsadgcgce dvdecassrg gcehhctnla gsfqcsceag yrlhedrrgc spleepmvdl
      421 dgelpfvrpl phiavlqdel pqlfqdddvg adeeeaelrg ehtltekfvc lddsfghdcs
      481 ltcddcrngg tcllgldgcd cpegwtglic netcppdtfg kncsfscscq nggtcdsvtg
      541 acrcppgvsg tncedgcpkg yygkhcrkkc ncanrgrchr lygaclcdpg lygrfchltc
      601 ppwafgpgcs eecqcvqpht qscdkrdgsc sckagfrger cqaecelgyf gpgcwqactc
      661 pvgvacdsvs gecgkrcpag fqgedcgqec pvgtfgvncs sscscggapc hgvtgqcrcp
      721 pgrtgedcea dcpegrwglg cqeicpacqh aarcdpetga clclpgfvgs rcqdvcpagw
      781 ygpscqtrcs candghchpa tghcscapgw tgfscqracd tghwgpdcsh pcncsaghgs
      841 cdaisglclc eagyvgprce qqcpqghfgp gceqrcqcqh gaacdhvsga ctcpagwrgt
      901 fcehacpagf fgldcrsacn ctagaacdav ngsclcpagr rgprcaetcp ahtyghncsq
      961 acacfngasc dpvhgqchca pgwmgpsclq acpaglygdn crhsclcqng gtcdpvsghc
     1021 acpegwagla cekeclprdv ragcrhsggc lngglcdpht grclcpagwt gdkcqspclr
     1081 gwfgeacaqr cscppgaach hvtgacrcpp gftgsgceqa cppgsfgedc aqmcqcpgen
     1141 pachpatgtc scaagyhgps cqqrcppgry gpgceqlcgc lnggscdaat gacrcptgfl
     1201 gtdcnltcpq grfgpncthv cgcgqgaacd pvtgtclcpp gragvrcerg cpqnrfgvgc
     1261 ehtcscrngg lchasngscs cglgwtgrhc elacppgryg aachlecsch nnstcepatg
     1321 tcrcgpgfyg qacehpcppg fhgagcqglc wcqhgapcdp isgrclcpag fhghfcergc
     1381 epgsfgegch qrcdcdggap cdpvtglclc ppgrsgatcn ldcrrgqfgp sctlhcdcgg
     1441 gadcdpvsgq chcvdgymgp tcreggplrl penpslaqgs agtlpassrp tsrsggparh
//
LOCUS       XP_047275630            1154 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein kinase JAK1 isoform X1 [Homo sapiens].
ACCESSION   XP_047275630
VERSION     XP_047275630.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419674.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1154
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1154
                     /product="tyrosine-protein kinase JAK1 isoform X1"
                     /calculated_mol_wt=133147
     Region          36..129
                     /region_name="FERM_F1"
                     /note="FERM F1 ubiquitin-like domain; pfam18379"
                     /db_xref="CDD:436452"
     Region          147..277
                     /region_name="FERM_F2"
                     /note="FERM F2 acyl-CoA binding protein-like domain;
                     pfam18377"
                     /db_xref="CDD:436450"
     Region          282..426
                     /region_name="FERM_C_JAK1"
                     /note="FERM domain C-lobe of Janus kinase 1; cd13332"
                     /db_xref="CDD:275412"
     Site            order(290,322,324,365)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:275412"
     Site            order(369,374..377,406,410,413..414)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:275412"
     Site            406..417
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:275412"
     Region          426..527
                     /region_name="SH2"
                     /note="Src homology 2 (SH2) domain; cl15255"
                     /db_xref="CDD:449520"
     Site            order(446,466,497,499)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198173"
     Site            order(498,525)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198173"
     Region          583..846
                     /region_name="PTK_Jak1_rpt1"
                     /note="Pseudokinase (repeat 1) domain of the Protein
                     Tyrosine Kinase, Janus kinase 1; cd05077"
                     /db_xref="CDD:270662"
     Region          870..1153
                     /region_name="PTKc_Jak1_rpt2"
                     /note="Catalytic (repeat 2) domain of the Protein Tyrosine
                     Kinase, Janus kinase 1; cd05079"
                     /db_xref="CDD:173644"
     Site            order(881..884,887..889,906,908,956..959,963,1003,
                     1007..1008,1010,1020..1021,1040..1044,1053,1101)
                     /site_type="active"
                     /db_xref="CDD:173644"
     Site            order(881..884,887..889,906,908,956..959,963,1007..1008,
                     1010,1020..1021)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:173644"
     Site            order(1003,1007,1040..1044,1053,1101)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:173644"
     Site            1020..1046
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:173644"
     CDS             1..1154
                     /gene="JAK1"
                     /gene_synonym="AIIDE; JAK1A; JAK1B; JTK3"
                     /coded_by="XM_047419674.1:122..3586"
                     /db_xref="GeneID:3716"
                     /db_xref="HGNC:HGNC:6190"
                     /db_xref="MIM:147795"
ORIGIN      
        1 mqylnikedc namafcakmr sskktevnle apepgvevif ylsdreplrl gsgeytaeel
       61 ciraaqacri splchnlfal ydentklwya pnrtitvddk mslrlhyrmr fyftnwhgtn
      121 dneqsvwrhs pkkqkngyek kkipdatpll dassleylfa qgqydlvkcl apirdpkteq
      181 dghdienecl gmavlaishy ammkkmqlpe lpkdisykry ipetlnksir qrnlltrmri
      241 nnvfkdflke fnnkticdss vsthdlkvky latletltkh ygaeifetsm llissenemn
      301 wfhsndggnv lyyevmvtgn lgiqwrhkpn vvsvekeknk lkrkklenkh kkdeeknkir
      361 eewnnfsyfp eithivikes vvsinkqdnk kmelklsshe ealsfvslvd gyfrltadah
      421 hylctdvapp livhniqngc hgpicteyai nklrqegsee gmyvlrwsct dfdnilmtvt
      481 cfekseqvqg aqkqfknfqi evqkgryslh gsdrsfpslg dlmshlkkqi lrtdnisfml
      541 krccqpkpre isnllvatkk aqewqpvypm sqlsfdrilk kdlvqgehlg rgtrthiysg
      601 tlmdykddeg tseekkikvi lkvldpshrd islaffeaas mmrqvshkhi vylygvcvrd
      661 venimveefv eggpldlfmh rksdvlttpw kfkvakqlas alsyledkdl vhgnvctknl
      721 llaregidse cgpfiklsdp gipitvlsrq ecieripwia pecvedsknl svaadkwsfg
      781 ttlweicyng eiplkdktli ekerfyesrc rpvtpsckel adlmtrcmny dpnqrpffra
      841 imrdinklee qnpdivsekk patevdpthf ekrflkrird lgeghfgkve lcrydpegdn
      901 tgeqvavksl kpesggnhia dlkkeieilr nlyhenivky kgictedggn giklimeflp
      961 sgslkeylpk nknkinlkqq lkyavqickg mdylgsrqyv hrdlaarnvl vesehqvkig
     1021 dfgltkaiet dkeyytvkdd rdspvfwyap eclmqskfyi asdvwsfgvt lhelltycds
     1081 dsspmalflk migpthgqmt vtrlvntlke gkrlpcppnc pdevyqlmrk cwefqpsnrt
     1141 sfqnliegfe allk
//
LOCUS       XP_005273308             597 aa            linear   PRI 20-MAR-2023
DEFINITION  C4b-binding protein alpha chain isoform X1 [Homo sapiens].
ACCESSION   XP_005273308
VERSION     XP_005273308.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005273251.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..597
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..597
                     /product="C4b-binding protein alpha chain isoform X1"
                     /calculated_mol_wt=66902
     Region          65..294
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     Region          298..538
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     Region          541..589
                     /region_name="C4bp_oligo"
                     /note="Oligomerization domain of C4b-binding protein
                     alpha; pfam18453"
                     /db_xref="CDD:436513"
     CDS             1..597
                     /gene="C4BPA"
                     /gene_synonym="C4BP; PRP"
                     /coded_by="XM_005273251.3:227..2020"
                     /db_xref="GeneID:722"
                     /db_xref="HGNC:HGNC:1325"
                     /db_xref="MIM:120830"
ORIGIN      
        1 mhppktpsga lhrkrkmaaw pfsrlwkvsd pilfqmtlia allpavlgnc gppptlsfaa
       61 pmditltetr fktgttlkyt clpgyvrshs tqtltcnsdg ewvyntfciy krcrhpgelr
      121 ngqveiktdl sfgsqiefsc segffligst tsrcevqdrg vgwshplpqc eivkckpppd
      181 irngrhsgee nfyaygfsvt yscdprfsll ghasisctve netigvwrps pptcekitcr
      241 kpdvshgemv sgfgpiynyk dtivfkcqkg fvlrgssvih cdadskwnps ppacepnsci
      301 nlpdiphasw etyprptked vyvvgtvlry rchpgykptt depttvicqk nlrwtpyqgc
      361 ealccpepkl nngeitqhrk srpanhcvyf ygdeisfsch etsrfsaicq gdgtwsprtp
      421 scgdicnfpp kiahghykqs ssysffkeei iyecdkgyil vgqaklscsy shwsapapqc
      481 kalcrkpelv ngrlsvdkdq yvepenvtiq cdsgygvvgp qsitcsgnrt wypevpkcew
      541 etpegceqvl tgkrlmqclp npedvkmale vyklsleieq lelqrdsarq stldkel
//
LOCUS       XP_016857739            2396 aa            linear   PRI 20-MAR-2023
DEFINITION  voltage-dependent R-type calcium channel subunit alpha-1E isoform
            X9 [Homo sapiens].
ACCESSION   XP_016857739
VERSION     XP_016857739.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002250.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2396
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..2396
                     /product="voltage-dependent R-type calcium channel subunit
                     alpha-1E isoform X9"
                     /calculated_mol_wt=270475
     Region          233..507
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          620..859
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1279..1513
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1603..1860
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1869..1922
                     /region_name="GPHH"
                     /note="Voltage-dependent L-type calcium channel,
                     IQ-associated; pfam16905"
                     /db_xref="CDD:435642"
     Region          1932..2008
                     /region_name="Ca_chan_IQ"
                     /note="Voltage gated calcium channel IQ domain; pfam08763"
                     /db_xref="CDD:430200"
     Region          2051..>2281
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     CDS             1..2396
                     /gene="CACNA1E"
                     /gene_synonym="BII; CACH6; CACNL1A6; Cav2.3; DEE69;
                     EIEE69; gm139"
                     /coded_by="XM_017002250.2:440..7630"
                     /db_xref="GeneID:777"
                     /db_xref="HGNC:HGNC:1392"
                     /db_xref="MIM:601013"
ORIGIN      
        1 mvpemrglsp drrlpepapc paagspeprs agrrqrhvla lpeeeawrpq qcalleadas
       61 devgmlpasp raasgfdnff qvqegegqgw egamaleags spflpvspev mkrrrgglie
      121 qrdiikahea hkmqstpqar rkewemarfg eavvarpgsg dgdsdqsrnr qgtpvpasgq
      181 aaaykqtkaq rartmalynp ipvrqncftv nrslfifged nivrkyakkl idwppfeymi
      241 latiianciv laleqhlped dktpmsrrle ktepyfigif cfeagikiva lgfifhkgsy
      301 lrngwnvmdf ivvlsgilat agthfnthvd lrtlravrvl rplklvsgip slqivlksim
      361 kamvpllqig lllffailmf aiiglefysg klhracfmnn sgilegfdpp hpcgvqgcpa
      421 gyeckdwigp ndgitqfdni lfavltvfqc itmegwttvl yntndalgat wnwlyfipli
      481 iigsffvlnl vlgvlsgefa kerervenrr afmklrrqqq ierelngyra widkaeevml
      541 aeenknagts alevlrrati krsrteamtr dssdehcvdi ssvgtplara siksakvdgv
      601 syfrhkerll risirhmvks qvfywivlsl valntacvai vhhnqpqwlt hllyyaeflf
      661 lglfllemsl kmygmgprly fhssfncfdf gvtvgsifev vwaifrpgts fgisvlralr
      721 llrifkitky waslrnlvvs lmssmksiis llfllflfiv vfallgmqlf ggrfnfndgt
      781 psanfdtfpa aimtvfqilt gedwnevmyn girsqggvss gmwsaiyfiv ltlfgnytll
      841 nvflaiavdn lanaqeltkd eqeeeeafnq khalqkakev spmsapnmps iererrrrhh
      901 msvweqrtsq lrkhmqmssq ealnreeapt mnplnplnpl sslnplnahp slyrrpraie
      961 glalglalek feeerisrgg slkgdggdrs saldnqrtpl slgqreppwl arpchgncdp
     1021 tqqeagggea vvtfedrarh rqsqrrsrhr rvrtegkess sasrsrsasq ersldeampt
     1081 egekdhelrg nhgakeptiq eeraqdlrrt nslmvsrgsg laggldeadt plvlphpele
     1141 vgkhvvlteq epegsseqal lgnvqldmgr visqsepdls citantdkat testsvtvai
     1201 pdvdplvdst vvhisnktdg easplkeaei redeeevekk kqkkekretg kamvphssmf
     1261 ifsttnpirr achyivnlry femcillvia assialaaed pvltnsernk vlryfdyvft
     1321 gvftfemvik midqglilqd gsyfrdlwni ldfvvvvgal vafalanalg tnkgrdikti
     1381 kslrvlrvlr plktikrlpk lkavfdcvvt slknvfnili vyklfmfifa viavqlfkgk
     1441 ffyctdsskd tekecignyv dheknkmevk grewkrhefh ydniiwallt lftvstgegw
     1501 pqvlqhsvdv teedrgpsrs nrmemsifyv vyfvvfpfff vnifvaliii tfqeqgdkmm
     1561 eecslekner acidfaisak pltrympqnr htfqyrvwhf vvspsfeyti mamialntvv
     1621 lmmkyysapc tyelalkyln iaftmvfsle cvlkviafgf lnyfrdtwni fdfitvigsi
     1681 teiiltdskl vntsgfnmsf lklfraarli kllrqgytir illwtfvqsf kalpyvclli
     1741 amlffiyaii gmqvfgnikl deeshinrhn nfrsffgslm llfrsatgea wqeimlsclg
     1801 ekgcepdtta psgqnenerc gtdlayvyfv sfiffcsflm lnlfvavimd nfeyltrdss
     1861 ilgphhldef vrvwaeydra acgrihytem yemltlmspp lglgkrcpsk vaykrlvlmn
     1921 mpvaedmtvh ftstlmalir taldikiakg gadrqqldse lqketlaiwp hlsqkmldll
     1981 vpmpkasdlt vgkiyaammi mdyykqskvk kqrqqleeqk napmfqrmep sslpqeiian
     2041 akalpylqqd pvsglsgrsg ypsmsplspq difqlacmdp addgqfqerq slvvtdpssm
     2101 rrsfstirdk rsnsswleef smerssenty ksrrrsyhss lrlsahrlns dsghksdthr
     2161 sggrergrsk erkhllspdv srcnseergt qadwesperr qsrspsegrs qtpnrqgtgs
     2221 lsessipsvs dtstprrsrr qlppvppkpr pllsysslir hagsisppad gseegsplts
     2281 qalesnnacl tessnsphpq qsqhaspqry isepylalhe dshasdcgee etltfeaava
     2341 tslgrsntig sapplrhswq mpnghyrrrr rggpgpgmmc gavnnllsdt eeddkc
//
LOCUS       XP_047287564            4243 aa            linear   PRI 20-MAR-2023
DEFINITION  hemicentin-1 isoform X3 [Homo sapiens].
ACCESSION   XP_047287564
VERSION     XP_047287564.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431608.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4243
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..4243
                     /product="hemicentin-1 isoform X3"
                     /calculated_mol_wt=461373
     Region          <2..50
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          22..26
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          36..41
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          49..52
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          59..137
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          79..83
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          92..96
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          115..120
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          130..135
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          164..243
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          173..177
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          186..190
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          209..213
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          223..228
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          236..239
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          256..333
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          267..271
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          280..284
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          303..307
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          317..322
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          354..430
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          360..364
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          373..377
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          396..400
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          410..415
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          436..513
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          452..456
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          465..469
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          489..493
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          503..508
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          536..608
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          546..550
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          559..563
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          581..586
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          596..601
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          639..700
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          650..654
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          673..678
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          688..693
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          711..786
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          729..733
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          742..746
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          764..769
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          779..784
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          811..894
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          835..839
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          859..864
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          874..879
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          898..975
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          918..922
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          931..935
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          953..958
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          968..973
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          981..984
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          999..1082
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1012..1016
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1025..1029
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1048..1052
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1062..1067
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1086..1175
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1105..1109
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1118..1122
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1141..1145
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1155..1160
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1190..1271
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1201..1205
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1214..1218
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1237..1241
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1251..1256
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1264..1267
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1289..1370
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1300..1304
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1313..1317
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1335..1340
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1350..1355
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1397..1466
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1403..1407
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1416..1420
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1439..1443
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1453..1458
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1487..1568
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1498..1502
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1511..1515
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1534..1538
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1548..1553
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1578..1660
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1590..1594
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1603..1607
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1626..1630
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1640..1645
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1653..1656
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1674..1755
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1685..1689
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1698..1702
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1719..1725
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1735..1740
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1748..1751
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1758..1836
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          1777..1781
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1790..1794
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1815..1819
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1829..1834
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1860..1944
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1872..1876
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1885..1889
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1910..1914
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1924..1929
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1937..1940
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1964..2038
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1968..1972
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1981..1985
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2004..2008
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2018..2023
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2031..2034
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2053..2131
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          2061..2065
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2074..2078
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2096..2101
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2111..2116
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2124..2127
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2134..2210
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          2154..2158
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2167..2171
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2190..2194
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2204..2209
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2236..2317
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          2247..2251
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2260..2264
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2282..2287
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2297..2302
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2310..2313
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2323..2399
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          2338..2342
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2351..2355
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2374..2378
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2388..2393
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2411..2488
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          2429..2433
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2442..2446
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2467..2471
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2481..2486
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2494..2497
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2507..2592
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          2522..2526
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2535..2539
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2558..2562
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2572..2577
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2585..2588
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2595..2670
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          2613..2617
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2626..2630
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2649..2653
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2663..2668
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2686..2760
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          2704..2708
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2717..2721
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2739..2743
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2753..2758
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2766..2769
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2776..2851
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          2794..2798
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2807..2811
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2830..2834
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2844..2849
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2857..2860
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2868..2953
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          2885..2889
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2898..2902
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2919..2923
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2933..2938
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2972..3043
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          2975..2979
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2988..2992
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          3010..3014
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          3024..3029
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          3037..3040
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          3049..3134
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          3065..3069
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          3078..3082
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          3100..3104
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          3114..3119
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          3127..3130
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          3141..3192
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          3197..3249
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          3254..3306
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          3311..3363
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          3368..3420
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          3425..3477
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          3476..3700
                     /region_name="G2F"
                     /note="G2 nidogen domain and fibulin; smart00682"
                     /db_xref="CDD:214774"
     Site            order(3482,3502,3504,3514,3516,3518,3675,3680,3684,3686)
                     /site_type="other"
                     /note="collagen/perlecan interaction surface [polypeptide
                     binding]"
                     /db_xref="CDD:238158"
     Region          3715..3754
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(3715,3718,3731)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          3755..3788
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(3755,3758,3774)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          3800..3836
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(3800,3803,3816)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          3838..3871
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(3838,3841,3855)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          3880..3911
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(3880,3883,3899)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          3923..3962
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(3923,3926,3940)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          4040..4079
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(4040,4043,4056)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          4080..4116
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(4080,4083,4099)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     CDS             1..4243
                     /gene="HMCN1"
                     /gene_synonym="ARMD1; FBLN6; FIBL-6; FIBL6"
                     /coded_by="XM_047431608.1:2317..15048"
                     /db_xref="GeneID:83872"
                     /db_xref="HGNC:HGNC:19194"
                     /db_xref="MIM:608548"
ORIGIN      
        1 mwykdnvqvt esstiqtvnn gkilklfrat pedagrysck ainiagtsqk yfnidvlvpp
       61 tiigtnfpne vsvvlnrdva lecqvkgtpf pdihwfkdgk plflgdpnve lldrgqvlhl
      121 knarrndkgr yqctvsnaag kqakdiklti yippsikggn vttdisvlin sliklecetr
      181 glpmpaitwy kdgqpimsss qalyidkgqy lhipraqvsd satytchvan vagtaeksfh
      241 vdvyvppmie gnlatplnkq vviahsltle ckaagnpspi ltwlkdgvpv kandniriea
      301 ggkkleimsa qeidrgqyic vatsvageke ikyevdvlvp paieggdets yfivmvnnll
      361 eldchvtgsp pptimwlkdg qliderdgfk illngrklvi aqaqvsntgl yrcmaantag
      421 dhkkefevtv hvpptikssg lservvvkyk pvalqciang ipnpsitwlk ddqpvntaqg
      481 nlkiqssgrv lqiaktlled agrytcvatn aagetqqhiq lhvheppsle dagkmlnetv
      541 lvsnpvqlec kaagnpvpvi twykdnrlls gstsmtflnr gqiidiesaq isdagiykcv
      601 ainsagatel fyslqvhvap sisgsnnmva vvvnnpvrle ceargipaps ltwlkdgspv
      661 ssfsnglqvl sggrilalts aqisdtgryt cvavnaagek qrdidlrvyv ppnimgeeqn
      721 vsvlisqave llcqsdaipp ptltwlkdgh pllkkpglsi senrsvlkie daqvqdtgry
      781 tceatnvagk teknynvniw vppniggsde ltqltviegn lisllcessg ipppnliwkk
      841 kgspvltdsm grvrilsggr qlqisiaeks daalyscvas nvagtakkey nlqvyirpti
      901 tnsgshptei ivtrgksisl ecevqgippp tvtwmkdghp likakgveil deghilqlkn
      961 ihvsdtgryv cvavnvagmt dkkydlsvha ppsiignhrs penisvvekn svsltceasg
     1021 iplpsitwfk dgwpvslsns vrilsggrml rlmqttmeda gqytcvvrna ageerkifgl
     1081 svlvpphivg entledvkvk ekqsvtltce vtgnpvpeit whkdgqplqe deahhiisgg
     1141 rflqitnvqv phtgrytcla sspaghksrs fslnvfvspt iagvgsdgnp edvtvilnsp
     1201 tslvceaysy ppatitwfkd gtplesnrni rilpggrtlq ilnaqednag ryscvatnea
     1261 gemikhyevk vyippiinkg dlwgpglspk evkikvnntl tleceayaip saslswykdg
     1321 qplksddhvn iaanghtlqi keaqisdtgr ytcvasniag edeldfdvni qvppsfqklw
     1381 eignmldtgr ngeakdviin npislycetn aappptltwy kdghpltssd kvlilpggrv
     1441 lqiprakved agrytcvavn eagedslqyd vrvlvppiik gansdlpeev tvlvnksali
     1501 eclssgspap rnswqkdgqp lleddhhkfl sngrilqiln tqitdigryv cvaentagsa
     1561 kkyfnlnvhv ppsvigpkse nltvvvnnfi sltcevsgfp ppdlswlkne qpiklntntl
     1621 ivpggrtlqi irakvsdgge ytciainqag eskkkfsltv yvppsikdhd seslsvvnvr
     1681 egtsvslece snavpppvit wykngrmite sthveiladg qmlhikkaev sdtgqyvcra
     1741 invagrddkn fhlnvyvpps iegpereviv etisnpvtlt cdatgipppt iawlknhkri
     1801 ensdslevri lsggsklqia rsqhsdsgny tciasnmegk aqkyyflsiq vppsvagaei
     1861 psdvsvllge nvelvcnang iptpliqwlk dgkpiasget erirvsangs tlniygalts
     1921 dtgkytcvat npageedrif nlnvyvtpti rgnkdeaekl mtlvdtsini ecratgtppp
     1981 qinwlknglp lplsshirll aagqvirivr aqvsdvavyt cvasnragvd nkhynlqvfa
     2041 ppnmdnsmgt eeitvlkgss tsmacitdgt papsmawlrd gqplgldahl tvsthgmvlq
     2101 llkaetedsg kytciasnea gevskhfilk vlepphings eeheeisviv nnpleltcia
     2161 sgipapkmtw mkdgrplpqt dqvqtlggge vlristaqve dtgrytclas spagdddkey
     2221 lvrvhvppni agtdeprdit vlrnrqvtle cksdavpppv itwlrngerl qatprvrils
     2281 ggrylqinna dlgdtanytc vasniagktt refiltvnvp pnikggpqsl villnkstvl
     2341 eciaegvptp ritwrkdgav lagnharysi lengflhiqs ahvtdtgryl cmatnaagtd
     2401 rrridlqvhv ppsiapgptn mtvivnvqtt laceatgipk psinwrkngh llnvdqnqns
     2461 yrllssgslv iispsvddta tyectvtnga gddkrtvdlt vqvppsiade ptdflvtkha
     2521 pavitctasg vpfpsihwtk ngirllprgd gyrilssgai eilatqlnha grytcvarna
     2581 agsahrhvtl hvheppviqp qpselhviln npillpceat gtpspfitwq keginvntsg
     2641 rnhavlpsgg lqisravred agtymcvaqn pagtalgkik lnvqvppvis phlkeyviav
     2701 dkpitlscea dglpppditw hkdgraives irqrvlssgs lqiafvqpgd aghytcmaan
     2761 vagssststk ltvhvpprir steghytvne nsqailpcva dgiptpainw kkdnvllanl
     2821 lgkytaepyg elilenvvle dsgfytcvan naagedthtv sltvhvlptf telpgdvsln
     2881 kgeqlrlsck atgiplpklt wtfnnniipa hfdsvnghse lviervsked sgtyvctaen
     2941 svgfvkaigf vyvkeppvfk gdypsnwiep lggnailnce vkgdptptiq wnrkgvdiei
     3001 shrirqlgng slaiygtvne dagdytcvat neagvversm sltlqsppii tlepvetvin
     3061 aggkiilncq atgepqptit wsrqghsisw ddrvnvlsnn slyiadaqke dtsefecvar
     3121 nlmgsvlvrv pvivqvhggf sqwsawracs vtcgkgiqkr srlcnqplpa nggkpcqgsd
     3181 lemrncqnkp cpvdgswsew slweectrsc grgnqtrtrt cnnpsvqhgg rpcegnavei
     3241 imcnirpcpv hgawsawqpw gtcsescgkg tqtrarlcnn pppafggsyc dgaetqmqvc
     3301 nerncpihgk watwaswsac svscgggarq rtrgcsdpvp qyggrkcegs dvqsdfcnsd
     3361 pcpthgnwsp wsgwgtcsrt cnggqmrryr tcdnpppsng gracggpdsq iqrcntdmcp
     3421 vdgswgswhs wsqcsascgg gektrkrlcd hpvpvkggrp cpgdttqvtr cnvqacpggp
     3481 qrargsvign indvefgiaf lnatitdspn sdtriiraki tnvprslgsa mrkivsilnp
     3541 iywttakeig eavngftltn avfkretqve fatgeilqms hiargldsdg sllldivvsg
     3601 yvlqlqspae vtvkdytedy iqtgpgqlya ystrlftidg isipytwnht vfydqaqgrm
     3661 pflvetlhas svesdynqie etlgfkihas iskgdrsnqc psgftldsvg pfcadedeca
     3721 agnpcshsch namgtyycsc pkgltiaadg rtcqdideca lgrhtchagq dcdntigsyr
     3781 cvvrcgsgfr rtsdglscqd inecqesspc hqrcfnaigs fhcgcepgyq lkgrkcmdvn
     3841 ecrqnvcrpd qhckntrggy kcidlcpngm tkaengtcid ideckdgthq crynqicent
     3901 rgsyrcvcpr gyrsqgvgrp cmdineceqv pkpcahqcsn tpgsfkcicp pgqhllgdgk
     3961 scaglerlpn ygtqyssynl arfspvrnny qpqqhyrqys hlyssyseyr nsrtslsrtr
     4021 rtirktcpeg seashdtcvd idecentdac qheckntfgs yqcicppgyq lthngktcqd
     4081 idecleqnvh cgpnrmcfnm rgsyqcidtp cppnyqrdpv sgfclkncpp ndlecalspy
     4141 aleyklvslp fgiatnqdli rlvaytqdgv mhprttflmv deeqtvpfal rdenlkgvvy
     4201 ttrplreaet yrmrvrassy sangtieyqt tfivyiavsa ypy
//
LOCUS       XP_006711023             808 aa            linear   PRI 20-MAR-2023
DEFINITION  volume-regulated anion channel subunit LRRC8C isoform X1 [Homo
            sapiens].
ACCESSION   XP_006711023
VERSION     XP_006711023.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006710960.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..808
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..808
                     /product="volume-regulated anion channel subunit LRRC8C
                     isoform X1"
                     /calculated_mol_wt=92963
     Region          6..343
                     /region_name="Pannexin_like"
                     /note="Pannexin-like TM region of LRRC8; pfam12534"
                     /db_xref="CDD:432617"
     Region          451..473
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          474..497
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          498..520
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          521..548
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          533..>780
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:227223"
     Region          549..571
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          572..595
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          596..618
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          619..643
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          644..666
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          667..689
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          713..735
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          736..757
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..808
                     /gene="LRRC8C"
                     /gene_synonym="AD158; FAD158"
                     /coded_by="XM_006710960.5:6977..9403"
                     /db_xref="GeneID:84230"
                     /db_xref="HGNC:HGNC:25075"
                     /db_xref="MIM:612889"
ORIGIN      
        1 mknrnmipvt efrqfseqqp afrvlkpwwd vftdylsvam lmigvfgctl qvmqdkiicl
       61 pkrvqpaqnh sslsnvsqav asttplpppk pspanpitve mkglktdldl qqysfinqmc
      121 yeralhwyak yfpylvliht lvfmlcsnfw fkfpgssski ehfisilgkc fdspwttral
      181 sevsgedsee kdnrknnmnr sntiqsgped slvnsqslks ipekfvvdks tagaldkkeg
      241 eqakalfekv kkfrlhveeg dilyamyvrq tvlkvikfli iiaynsalvs kvqftvdcnv
      301 diqdmtgykn fscnhtmahl fsklsfcylc fvsiygltcl ytlywlfyrs lreysfeyvr
      361 qetgiddipd vkndfafmlh midqydplys krfavflsev senklkqlnl nnewtpdklr
      421 qklqtnahnr lelplimlsg lpdtvfeite lqslkleiik nvmipatiaq ldnlqelslh
      481 qcsvkihsaa lsflkenlkv lsvkfddmre lppwmyglrn leelylvgsl shdisrnvtl
      541 eslrdlkslk ilsiksnvsk ipqavvdvss hlqkmcihnd gtklvmlnnl kkmtnltele
      601 lvhcdlerip havfsllslq eldlkennlk sieeivsfqh lrkltvlklw hnsityipeh
      661 ikkltslerl sfshnkievl pshlflcnki ryldlsyndi rfippeigvl qslqyfsitc
      721 nkveslpdel yfckklktlk igknslsvls pkignllfls yldvkgnhfe ilppelgdcr
      781 alkraglvve dalfetlpsd vreqmkte
//
LOCUS       XP_047280569             663 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-1(XIII) chain isoform X19 [Homo sapiens].
ACCESSION   XP_047280569
VERSION     XP_047280569.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424613.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..663
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..663
                     /product="collagen alpha-1(XIII) chain isoform X19"
                     /calculated_mol_wt=64745
     Region          <301..>491
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <405..>656
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     CDS             1..663
                     /gene="COL13A1"
                     /gene_synonym="CMS19; COLXIIIA1"
                     /coded_by="XM_047424613.1:519..2510"
                     /db_xref="GeneID:1305"
                     /db_xref="HGNC:HGNC:2190"
                     /db_xref="MIM:120350"
ORIGIN      
        1 mvaerthkaa atgargpgel gapgtvalva araergarlp spgscglltl alcslalsll
       61 ahfrtaelqa rvlrleaerg eqqmetailg rvnqlldekw klhsrrrrea pktspgcncp
      121 pgppgptgrp glpgdkgaig mpgrvgvkgq pgekgspgda glsiigprgp pgqpgtrgfp
      181 gfpgpigldg kpghpgpkgd mgltgppgqp gpqgqkgekg qcgeyphrll pllnsvrlap
      241 ppvikrrtfq geqsqasiqg ppgppgppgp sgplghpglp gpmgppglpg ppgpkgdpgi
      301 qgyhgrkger gmpgmpgkhg akgapgiava gmkgepgipg tkgekgaegs pglpgllgqk
      361 gekgdagnsi gggrgepgpp glpgppgpkg eagvdgqvgp pgqpgdkger gaageqgpdg
      421 pkgskgepgk gemvdyngni nealqeirtl almgppglpg qigppgapgi pgqkgeiglp
      481 gppghdgekg prgkpgdmgp pgpqgppgkd gppgvkgeng hpgspgekge kgetgqagsp
      541 glqgvpgpkg eagldgakge kgfqgekgdr gplglpgtpg pigvpgpagp kgergskgdp
      601 gmtgptgaag lpglhgppgd kgnrghrgfk gekgepglpg ldgldapcpl gedglpvqgc
      661 wnk
//
LOCUS       XP_047280753             428 aa            linear   PRI 20-MAR-2023
DEFINITION  BEN domain-containing protein 7 isoform X17 [Homo sapiens].
ACCESSION   XP_047280753
VERSION     XP_047280753.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424797.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..428
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..428
                     /product="BEN domain-containing protein 7 isoform X17"
                     /calculated_mol_wt=47600
     Region          323..404
                     /region_name="BEN"
                     /note="BEN domain; pfam10523"
                     /db_xref="CDD:431337"
     CDS             1..428
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /coded_by="XM_047424797.1:482..1768"
                     /db_xref="GeneID:222389"
                     /db_xref="HGNC:HGNC:23514"
ORIGIN      
        1 mefserkrsr ksqsfklvsr dyhhevykip efsndvngea ketqpiflgd esmeikkqit
       61 gmrrllndst griyqrvgke geklkeepqd ldlvwpprln ssaeapqslh pssrgvwnel
      121 ppqsgqfsgq ygtrsrtfqs qphpttssng mvvnkhsegs hggelpvvns sagsncctcn
      181 cqstlqailq elktmrklmq iqavgtqnrq qppislicsq rtavsrkrnk kkkvppktve
      241 pltvkqkpsg semekksvva selsalqaae htspeesrvl gfgivlesps sdpevqlaeg
      301 fdvfmpksql dsilsnytrs gsllfrklvc affddktlan slpngkrkrg lndnrkgldq
      361 nivgaikvft ekyctanhvd klpgprdwvq ilqdqiklar rrlkrgsaei adsderldgi
      421 alpptgly
//
LOCUS       XP_047281114             398 aa            linear   PRI 20-MAR-2023
DEFINITION  putative aldo-keto reductase family 1 member C8 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047281114
VERSION     XP_047281114.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425158.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..398
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..398
                     /product="putative aldo-keto reductase family 1 member C8
                     isoform X1"
                     /calculated_mol_wt=45468
     Region          9..356
                     /region_name="AKR_AKR1C1-35"
                     /note="AKR1C family of aldo-keto reductase (AKR); cd19108"
                     /db_xref="CDD:381334"
     Site            order(25..27,53,57..58,87,89,120..121,123,179..180,
                     217..218,241,267..273,275,278,287,304,319..324,327,
                     330..331)
                     /site_type="active"
                     /db_xref="CDD:381334"
     Site            order(53,58,87,120)
                     /site_type="active"
                     /note="catalytic tetrad [active]"
                     /db_xref="CDD:381334"
     CDS             1..398
                     /gene="AKR1C8"
                     /gene_synonym="AKR1C8P; AKR1CL1"
                     /coded_by="XM_047425158.1:47..1243"
                     /db_xref="GeneID:340811"
                     /db_xref="HGNC:HGNC:23469"
ORIGIN      
        1 mmtdlkqshs vrlndgpfmp vlgfgtyapd htpksqaaea tkvaidvgfr hidsaylyqn
       61 eeevgqaiwe kiadgtvkre eifytiklwa tffraelvhp alerslkklg pdyvdlfiih
      121 vpfamkvsfc fsllcprlfh hgykhlnyli lawfpgfflr eadlsevhri aktfpgkell
      181 pkdasgeiil etvelcdtwe alekckeagl trsigvsnfn hkllelilnk pglkykptcn
      241 qvechpylnq skllefcksk divlvaysal gsqrdpqwvd pdcphlleep ilksiakkhs
      301 gspgqvalry qlqrgvvvla ksfsqerike nfqifdfelt pedmkaidgl nrnlrydklq
      361 llwyqddagl cllhqsrwel qmgavhiqps wnglpvre
//
LOCUS       XP_047282724             434 aa            linear   PRI 20-MAR-2023
DEFINITION  isobutyryl-CoA dehydrogenase, mitochondrial isoform X2 [Homo
            sapiens].
ACCESSION   XP_047282724
VERSION     XP_047282724.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426768.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..434
                     /product="isobutyryl-CoA dehydrogenase, mitochondrial
                     isoform X2"
                     /calculated_mol_wt=46884
     Region          41..398
                     /region_name="IBD"
                     /note="Isobutyryl-CoA dehydrogenase; cd01162"
                     /db_xref="CDD:173851"
     Site            order(124,128,167,266,273..274,277,346,348,397..398)
                     /site_type="other"
                     /note="substrate binding pocket [chemical binding]"
                     /db_xref="CDD:173851"
     Site            order(158,160..161,166..167,191,193,235,393)
                     /site_type="other"
                     /note="FAD binding site [chemical binding]"
                     /db_xref="CDD:173851"
     Site            398
                     /site_type="active"
                     /note="catalytic base [active]"
                     /db_xref="CDD:173851"
     CDS             1..434
                     /gene="ACAD8"
                     /gene_synonym="ACAD-8; ARC42; IBDH"
                     /coded_by="XM_047426768.1:34..1338"
                     /db_xref="GeneID:27034"
                     /db_xref="HGNC:HGNC:87"
                     /db_xref="MIM:604773"
ORIGIN      
        1 mlwsgcrrfg arlgclpggl rvlvqtghrs ltscidpsmg lneeqkefqk vafdfaarem
       61 apnmaewdqk elfpvdvmrk aaqlgfggvy iqtdvggsgl srldtsvife alatgctstt
      121 ayisihnmca wmidsfgnee qrhkfcpplc tmekfasycl tepgsgsdaa slltsakkqg
      181 dhyilngska fisgagesdi yvvmcrtggp gpkgiscivv ekgtpglsfg kkekkvgwns
      241 qptravifed cavpvanrig segqgfliav rglnggrini ascslgaaha sviltrdhln
      301 vrkqfgepla snqylqftla dmatrlvaar lmvrnaaval qeerkdaval csmaklfatd
      361 ecfaicnqal qmhggygylk dyavqqyvrd srvhqileel fwqgpgvqsr sfvpfggpqi
      421 alllpfssgd lreg
//
LOCUS       XP_005253166             548 aa            linear   PRI 20-MAR-2023
DEFINITION  tubby protein homolog isoform X1 [Homo sapiens].
ACCESSION   XP_005253166
VERSION     XP_005253166.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005253109.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..548
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..548
                     /product="tubby protein homolog isoform X1"
                     /calculated_mol_wt=59669
     Region          71..279
                     /region_name="Tub_N"
                     /note="Tubby N-terminal; pfam16322"
                     /db_xref="CDD:435276"
     Region          298..543
                     /region_name="Tub"
                     /note="Tub family; pfam01167"
                     /db_xref="CDD:426094"
     CDS             1..548
                     /gene="TUB"
                     /gene_synonym="rd5; RDOB"
                     /coded_by="XM_005253109.4:137..1783"
                     /db_xref="GeneID:7275"
                     /db_xref="HGNC:HGNC:12406"
                     /db_xref="MIM:601197"
ORIGIN      
        1 mvqssarasa gpaacepaps pappppaepr aepeaamegv sshrtlsysr wsydsvldde
       61 grnlrqqkld rqralleqkq kkkrqeplmv qanadgrprs rrarqseeqa plvesylsss
      121 gstsyqvqea dslasvqlga trptapasak rtkaaatagg qggaarkekk gkhkgtsgpa
      181 alaedkseaq gpvqiltvgq sdhaqdaget aagggerpsg qdlratmqrk gisssmsfde
      241 deedeeenss sssqlnsntr pssatsrksv reaasapspt apeqpvdvev qdleefalrp
      301 apqgitikcr itrdkkgmdr gmyptyflhl dredgkkvfl lagrkrkksk tsnylisvdp
      361 tdlsrggdsy igklrsnlmg tkftvydngv npqkassstl esgtlrqela avcyetnvlg
      421 fkgprkmsvi vpgmnmvher vsirprnehe tllarwqnkn tesiielqnk tpvwnddtqs
      481 yvlnfhgrvt qasvknfqii hgndpdyivm qfgrvaedvf tmdynyplca lqafaialss
      541 fdsklace
//
LOCUS       XP_047284117            1903 aa            linear   PRI 20-MAR-2023
DEFINITION  bromodomain adjacent to zinc finger domain protein 2A isoform X5
            [Homo sapiens].
ACCESSION   XP_047284117
VERSION     XP_047284117.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428161.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1903
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1903
                     /product="bromodomain adjacent to zinc finger domain
                     protein 2A isoform X5"
                     /calculated_mol_wt=210807
     Region          <390..>522
                     /region_name="PRK10856"
                     /note="cytoskeleton protein RodZ"
                     /db_xref="CDD:236776"
     Region          549..621
                     /region_name="HAT_MBD"
                     /note="Methyl-CpG binding domains (MBD) present in
                     putative chromatin remodelling factor such as BAZ2A; BAZ2A
                     contains a MBD, DDT, PHD-type zinc finger and Bromo domain
                     suggesting that BAZ2A might be associated with histone
                     acetyltransferase (HAT) activity. The...; cd01397"
                     /db_xref="CDD:238691"
     Site            order(561,563,565,572,574,583,586,590)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238691"
     Region          846..911
                     /region_name="DDT"
                     /note="domain in different transcription and chromosome
                     remodeling factors; smart00571"
                     /db_xref="CDD:214726"
     Region          1109..>1164
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          <1325..1428
                     /region_name="PHA03378"
                     /note="EBNA-3B; Provisional"
                     /db_xref="CDD:223065"
     Region          <1437..1471
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          1676..1722
                     /region_name="PHD_BAZ2A"
                     /note="PHD finger found in bromodomain adjacent to zinc
                     finger domain protein 2A (BAZ2A); cd15629"
                     /db_xref="CDD:277099"
     Site            order(1683,1686..1687,1689..1693,1711..1714)
                     /site_type="other"
                     /note="H3 histone binding site [polypeptide binding]"
                     /db_xref="CDD:277099"
     Region          1796..1892
                     /region_name="Bromo_BAZ2A_B_like"
                     /note="Bromodomain, BAZ2A/BAZ2B_like subfamily. Bromo
                     adjacent to zinc finger 2A (BAZ2A) and 2B (BAZ2B) were
                     identified as a novel human bromodomain gene by cDNA
                     library screening. BAZ2A is also known as Tip5
                     (Transcription termination factor I-interacting...;
                     cd05503"
                     /db_xref="CDD:99935"
     Site            order(1820,1825,1828,1867,1871,1877)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99935"
     CDS             1..1903
                     /gene="BAZ2A"
                     /gene_synonym="TIP5; WALp3"
                     /coded_by="XM_047428161.1:54..5765"
                     /db_xref="GeneID:11176"
                     /db_xref="HGNC:HGNC:962"
                     /db_xref="MIM:605682"
ORIGIN      
        1 meandhfnft glppapaasg lkpspssgeg lytngspmnf pqqgkslngd vnvnglstvs
       61 htttsgilns aphssstshl hhpsvaydcl wnysqypsan pgsnlkdppl lsqfsggqyp
      121 lngilggsrq psspshntnl ragsqefwan gtqspmglnf dsqelydsfp dqnfevmpng
      181 ppsfftspqt spmlgssiqt fapsqevgsg ihpdeaaeke mtsvvaengt glvgslelee
      241 eqpelkmcgy ngsvpsvesl hqevsvlvpd ptvsclddps hlpdqledtp ilsedslepf
      301 nslapepvsg glygiddtel mgaedklple dspvisaldc pslnnatafs lladdsqtst
      361 sifasptspp vlgesvlqdn sfdlnngsda eqeemetqss dfppsltqpa pdqsstiqlh
      421 patspavspt tspavslvvs paaspeispe vcpaastvvs pavfsvvspa ssavlpavsl
      481 evpltasvts pkaspvtspa aafptaspan kdvssflett adveeitgeg ltasgsgdvm
      541 rrriatpeev rlplqhgwrr evrikkgshr wqgetwyygp cgkrmkqfpe vikylsrnvv
      601 hsvrrehfsf sprmpvgdff eerdtpeglq wvqlsaeeip sriqaitgkr grprntekak
      661 tkevpkvkrg rgrppkvkit ellnktdnrp lkkleaqetl needkakiak skkkmrqkvq
      721 rgecqttiqg qarnkrkqet kslkqkeakk kskaekekgk tkqeklkekv krekkekvkm
      781 kekeevtkak packadktla tqrrleerqr qqmileemkk ptedmcltdh qplpdfsrvp
      841 gltlpsgafs dcltiveflh sfgkvlgfdp akdvpslgvl qegllcqgds lgevqdllvr
      901 llkaalhdpg fpsycqslki lgekvseipl trdnvseilr cflmaygvep alcdrlrtqp
      961 fqaqppqqka avlaflvhel ngstliinei dktlesmssy rknkwivegr lrrlktvlak
     1021 rtgrseveme gpeeclgrrr ssrimeetsg meeeeeeesi aavpgrrgrr dgevdatass
     1081 ipelerqiek lskrqlffrk kllhssqmlr avslgqdryr rrywvlpyla gifvegtegn
     1141 lvpeevikke tdslkvaaha slnpalfsmk melagsntta ssparargrp rktkpgsmqp
     1201 rhlkspvrgq dseqpqaqlq peaqlhapaq pqpqlqlqlq shkgfleqeg splslgqsqh
     1261 dlsqsaflsw lsqtqshssl lsssvltpds spgkldpaps qppeepepde aesspdpqal
     1321 wfnisaqmpc naaptpppav sedqptpspq qlasskpmnr psaanpcspv qfsstplagl
     1381 apkrragdpg empqsptglg qpkrrgrpps kffkqmeqry ltqltaqpvp pemcsgwwwi
     1441 rdpemldaml kalhprgire kalhkhlnkh rdflqevclr psadpifepr qlpafqegim
     1501 swspkektye tdlavlqwve eleqrvimsd lqirgwtcps pdstredlay cehlsdsqed
     1561 itwrgrgreg lapqrkttnp ldlavmrlaa leqnverryl replwpthev vlekallstp
     1621 ngapegttte isyeitprir vwrqtlercr saaqvclclg qlersiawek svnkvtclvc
     1681 rkgdndefll lcdgcdrgch iychrpkmea vpegdwfctv claqqvegef tqkpgfpkrg
     1741 qkrksgysln fsegdgrrrr vllrgrespa agpryseegl spskrrrlsm rnhhsdltfc
     1801 eiilmemesh daawpflepv nprlvsgyrr iiknpmdfst mrerllrggy tsseefaada
     1861 llvfdncqtf neddsevgka ghimrrffes rweefyqgkq anl
//
LOCUS       XP_047285612            1112 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat and IQ domain-containing protein 1 isoform X13
            [Homo sapiens].
ACCESSION   XP_047285612
VERSION     XP_047285612.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429656.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1112
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1112
                     /product="leucine-rich repeat and IQ domain-containing
                     protein 1 isoform X13"
                     /calculated_mol_wt=127464
     Region          <265..>331
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          274..295
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          296..316
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          317..338
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          322..531
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          339..360
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          361..404
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          405..426
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          427..450
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          451..472
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          473..498
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          728..744
                     /region_name="IQ"
                     /note="Calmodulin-binding motif; smart00015"
                     /db_xref="CDD:197470"
     Region          784..805
                     /region_name="IQ"
                     /note="Calmodulin-binding motif; smart00015"
                     /db_xref="CDD:197470"
     CDS             1..1112
                     /gene="LRRIQ1"
                     /coded_by="XM_047429656.1:82..3420"
                     /db_xref="GeneID:84125"
                     /db_xref="HGNC:HGNC:25708"
ORIGIN      
        1 mddddaklka eieaeldkls isslekedie sdaksetqsd dsdtdsvelp esvlhcinii
       61 knrskaveel ilqdledtdi lscsygavsn nhmhlrtgls teyeesseql ikilseieke
      121 efmrsktdca tpdfvpepsp hdlpmdehvl pddadinfgy ceveekcrqs feawqekqke
      181 ledkekqtlk aqrdreekqf qeeeekrhcw mkqfkvekkk leniqkqeqd kmndelykee
      241 kiwkekfkqh evttvtfqdl pgcvlstlae ctnlqflslr rcgltslhsl snckklkyid
      301 aqenhieaie cenlenlcvv llnknqltsl hgldgctniq clelsynkit riggleslkn
      361 lqqlildhnq lintkglcdt ptivyldcsh nhltdvegve ncgllqilkl qgnylselps
      421 lenlvllrel hlddnsistv eafssywlpl lqnitisqns ltkivplfhf vslekldvsh
      481 nclsdlksai kwfdacyslh elsltgnpll qetnwrdsll kvlpalriln gnilnsnses
      541 rteehnqlgs agflalcqsq irefnllien yitgkgdvft ldtaenlchy fkklmilste
      601 yrhahergdv titkkdesea qknhlaptns dstlqngvfy scaregepds pdipekwmds
      661 vsshsplsks atcenmegrh qeilvcqkre dskassipti ripfkevvmt nsllrnhqni
      721 epsekimaav viqsywrgyl mrrqthfstr lhtaateglp nssiknqtil kkgkrenivn
      781 irkqrekaai liqavwkgfi lrkklttale aikneesdee yreidledfi fdeaaleeew
      841 laldstrfps qtlllsnqlh wpkipgnlkw ddtsfnlpsn paqawlcndk enlsssehtq
      901 fnsrsenkts swtpesktsr ksllksekek kiseewgfkd istaqqmlkr aqkmkskklk
      961 kkidstvrla lfknnenkvs lpkspkmvqp rrdgyfegie edpihkdtta neklernrey
     1021 tyqwlhtqvg vhettssrnm kcnhflpeld pdvlnggrvq lvarlvsred tdldlfsmtn
     1081 gsalsvnrek knqahrhsag sssklwfpsk li
//
LOCUS       XP_011533217             311 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat and FYVE domain-containing protein 2 isoform X3 [Homo
            sapiens].
ACCESSION   XP_011533217
VERSION     XP_011533217.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534915.3
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 35% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..311
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..311
                     /product="WD repeat and FYVE domain-containing protein 2
                     isoform X3"
                     /calculated_mol_wt=35072
     Region          <11..183
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          28..61
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          70..108
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          114..151
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          156..194
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          190..259
                     /region_name="FYVE_WDFY1_like"
                     /note="FYVE domain found in WD40 repeat and FYVE
                     domain-containing protein WDFY1 and WDFY2, and similar
                     proteins; cd15718"
                     /db_xref="CDD:277258"
     Site            order(192,196,221..226,228..229,253..255)
                     /site_type="other"
                     /note="putative phosphatidylinositol 3-phosphate binding
                     site [chemical binding]"
                     /db_xref="CDD:277258"
     Region          232..274
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          280..306
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..311
                     /gene="WDFY2"
                     /gene_synonym="PROF; WDF2; ZFYVE22"
                     /coded_by="XM_011534915.3:420..1355"
                     /db_xref="GeneID:115825"
                     /db_xref="HGNC:HGNC:20482"
                     /db_xref="MIM:610418"
ORIGIN      
        1 mqclefilse dynkmtpvkn yqahqsrvtm ilfvlelewv lstgqdkqfa whcsesgqrl
       61 ggyrtsavas glqfdvetrh vfigdhsgqv tilkleqenc tlvttfrght ggvtalcwdp
      121 vqrvlfsgss dhsvimwdig grkgtaielq ghndrvqals yaqhtrqlis cggdggivvw
      181 nmdverqetp ewldsdscqk cdqpffwnfk qmwdskkigl rqhhcrkcgk avcgkcsskr
      241 ssiplmgfef evrvcdsche aitdeerapt atfhdskhni vhvhfdatrg wlltsgtdkv
      301 iklwdmtpvv s
//
LOCUS       XP_047286080             619 aa            linear   PRI 20-MAR-2023
DEFINITION  ETS-related transcription factor Elf-1 isoform X1 [Homo sapiens].
ACCESSION   XP_047286080
VERSION     XP_047286080.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430124.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..619
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..619
                     /product="ETS-related transcription factor Elf-1 isoform
                     X1"
                     /calculated_mol_wt=67367
     Region          2..111
                     /region_name="Elf-1_N"
                     /note="Transcription factor protein N terminal; pfam12310"
                     /db_xref="CDD:432470"
     Region          207..289
                     /region_name="ETS"
                     /note="erythroblast transformation specific domain;
                     smart00413"
                     /db_xref="CDD:197710"
     CDS             1..619
                     /gene="ELF1"
                     /gene_synonym="EFTUD1; RIA1"
                     /coded_by="XM_047430124.1:457..2316"
                     /db_xref="GeneID:1997"
                     /db_xref="HGNC:HGNC:3316"
                     /db_xref="MIM:189973"
ORIGIN      
        1 maavvqqndl vfefasnvme derqlgdpai fpavivehvp gadilnsyag lacveepndm
       61 itessldvae eeiidddddd itltveasch dgdetietie aaeallnmds pgpmldekri
      121 nnnifssped dmvvapvthv svtldgipev metqqvqeky adspgasspe qpkrkkgrkt
      181 kpprpdspat tpnisvkkkn kdgkgntiyl wefllallqd katcpkyikw tqrekgifkl
      241 vdskavsrlw gkhknkpdmn yetmgralry yyqrgilakv egqrlvyqfk empkdliyin
      301 dedpsssies sdpslsssat snrnqtsrsr vssspgvkgg attvlkpgns kaakpkdpve
      361 vaqpsevlrt vqptqspypt qlfrtvhvvq pvqavpegea artstmqdet lnssvqsirt
      421 iqaptqvpvv vsprnqqlht vtlqtvpltt viastdpsag tgsqkfilqa ipssqpmtvl
      481 kenvmlqsqk agsppsivlg paqvqqvlts nvqticngtv svasspsfsa tapvvtfspr
      541 ssqlvahppg tvitsviktq etktltqeve kkesedhlke ntekteqqpq pyvmvvsssn
      601 gftsqvamkq nellepnsf
//
LOCUS       XP_016876040             149 aa            linear   PRI 20-MAR-2023
DEFINITION  general transcription factor IIF subunit 2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_016876040
VERSION     XP_016876040.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017020551.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..149
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..149
                     /product="general transcription factor IIF subunit 2
                     isoform X2"
                     /calculated_mol_wt=17532
     Region          76..140
                     /region_name="TFIIF_beta"
                     /note="Transcription initiation factor IIF, beta subunit;
                     pfam02270"
                     /db_xref="CDD:426691"
     CDS             1..149
                     /gene="GTF2F2"
                     /gene_synonym="BTF4; RAP30; TF2F2; TFIIF"
                     /coded_by="XM_017020551.2:156..605"
                     /db_xref="GeneID:2963"
                     /db_xref="HGNC:HGNC:4653"
                     /db_xref="MIM:189969"
ORIGIN      
        1 mdklslegiv vqraecrpaa senymrlkrl qieesskpvr lsqqldkvvt tnykpvanhq
       61 ynieyerkkk edgkraradk qhvldmlfsa fekhqyynlk dlvditkqpv vylkeilkei
      121 gvqnvkgihk ntwelkpeyr hyqgeeksd
//
LOCUS       XP_047286241             158 aa            linear   PRI 20-MAR-2023
DEFINITION  high mobility group protein B1 isoform X2 [Homo sapiens].
ACCESSION   XP_047286241
VERSION     XP_047286241.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430285.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..158
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..158
                     /product="high mobility group protein B1 isoform X2"
                     /calculated_mol_wt=18180
     Region          8..76
                     /region_name="HMG-box_HMGB_rpt1"
                     /note="first high mobility group (HMG)-box found in the
                     high mobility group protein B (HMGB) family; cd21978"
                     /db_xref="CDD:438794"
     Site            order(8..10,13,16..17,19..21,25,28,35..36,38..39,41..43,
                     45..46,50)
                     /site_type="other"
                     /note="p53 binding site [polypeptide binding]"
                     /db_xref="CDD:438794"
     Site            order(8,10..11,13..17,20..21,36,38..39,41..43,46,49)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438794"
     Region          93..157
                     /region_name="HMG-box_HMGB_rpt2"
                     /note="second high mobility group (HMG)-box found in the
                     high mobility group protein B (HMGB) family; cd21979"
                     /db_xref="CDD:438795"
     Site            order(94..100,102..104,106..107,110,122..123,125..127,130,
                     133,152,155..156)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438795"
     CDS             1..158
                     /gene="HMGB1"
                     /gene_synonym="HMG-1; HMG1; HMG3; SBP-1"
                     /coded_by="XM_047430285.1:738..1214"
                     /db_xref="GeneID:3146"
                     /db_xref="HGNC:HGNC:4983"
                     /db_xref="MIM:163905"
ORIGIN      
        1 mgkgdpkkpr gkmssyaffv qtcreehkkk hpdasvnfse fskkcserwk tmsakekgkf
       61 edmakadkar yeremktyip pkgetkkkfk dpnapkrpps afflfcseyr pkikgehpgl
      121 sigdvakklg emwnntaadd kqpyekkaak lkekyekf
//
LOCUS       XP_005267331             355 aa            linear   PRI 20-MAR-2023
DEFINITION  cholesterol 24-hydroxylase isoform X3 [Homo sapiens].
ACCESSION   XP_005267331
VERSION     XP_005267331.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005267274.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..355
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..355
                     /product="cholesterol 24-hydroxylase isoform X3"
                     /calculated_mol_wt=40048
     Region          <5..339
                     /region_name="CYP46A1-like"
                     /note="cytochrome P450 family 46, subfamily A, polypeptide
                     1, also called cholesterol 24-hydroxylase, and similar
                     cytochrome P450s; cd20613"
                     /db_xref="CDD:410706"
     CDS             1..355
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /coded_by="XM_005267274.6:100..1167"
                     /db_xref="GeneID:10858"
                     /db_xref="HGNC:HGNC:2641"
                     /db_xref="MIM:604087"
ORIGIN      
        1 mnaslvslme tfnekaeqlv eileakadgq tpvsmqdmlt ytamdilaka afgmetsmll
       61 gaqkplsqav klmlegitas rntlakflpg krkqlrevre sirflrqvgr dwvqrrreal
      121 krgeevpadi ltqilkaeeg aqddeglldn fvtffiaghe tsanhlaftv melsrqpeiv
      181 arlqaevdev igskryldfe dlgrlqylsq vlkeslrlyp pawgtfrlle eetlidgvrv
      241 pgntpllfst yvmgrmdtyf edpltfnpdr fgpgapkprf tyfpfslghr scigqqfaqm
      301 evkvvmakll qrlefrlvpg qrfglqeqat lkpldpvlct lrprgwqpap ppppc
//
LOCUS       XP_047286971             268 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing protein 74A isoform X6 [Homo
            sapiens].
ACCESSION   XP_047286971
VERSION     XP_047286971.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431015.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..268
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..268
                     /product="leucine-rich repeat-containing protein 74A
                     isoform X6"
                     /calculated_mol_wt=29630
     Region          66..91
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <69..232
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          93..119
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          120..148
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          149..176
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          177..200
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          205..225
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..268
                     /gene="LRRC74A"
                     /gene_synonym="C14orf166B; LRRC74"
                     /coded_by="XM_047431015.1:131..937"
                     /db_xref="GeneID:145497"
                     /db_xref="HGNC:HGNC:23346"
ORIGIN      
        1 mlyceaespp tvekvkpare nsetdleied dekffttgqk elyleacklm gvvpvsyfir
       61 nmeesyvnln hhglgprgtk aiaialvsnm avtkleledn cimeegvlsl vemlqenyyl
      121 qemnisnnhl glegariisd ffernsssiw slelsgndfk edsaallcqa lstnyqikkl
      181 dlshnqfsdv ggehlgqmla invgltsldl swnnfhtrga valcnglrgk ssdstaawst
      241 wisvamtsam kgppksakdw npmkasef
//
LOCUS       XP_006720184             130 aa            linear   PRI 20-MAR-2023
DEFINITION  syntaxin-binding protein 6 isoform X3 [Homo sapiens].
ACCESSION   XP_006720184
VERSION     XP_006720184.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006720121.5
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 27% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..130
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..130
                     /product="syntaxin-binding protein 6 isoform X3"
                     /calculated_mol_wt=14472
     Region          <1..51
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          69..130
                     /region_name="SNARE"
                     /note="SNARE motif; cl22856"
                     /db_xref="CDD:451431"
     Site            order(93,100,103)
                     /site_type="other"
                     /note="flanking leucine-zipper layers"
                     /db_xref="CDD:277192"
     Site            96
                     /site_type="active"
                     /note="zero layer [active]"
                     /db_xref="CDD:277192"
     CDS             1..130
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /coded_by="XM_006720121.5:505..897"
                     /db_xref="GeneID:29091"
                     /db_xref="HGNC:HGNC:19666"
                     /db_xref="MIM:607958"
ORIGIN      
        1 mleqlrqvng idpngdsaef dllfenafdq wvastasekc tffqilhhtc qryltdrkpe
       61 fincqskimg gnsilhsaad svtsavqkas qalnergerl graeektedl knsaqqfaet
      121 ahklamkhkc
//
LOCUS       XP_011535213             702 aa            linear   PRI 20-MAR-2023
DEFINITION  vertnin isoform X1 [Homo sapiens].
ACCESSION   XP_011535213
VERSION     XP_011535213.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011536911.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..702
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..702
                     /product="vertnin isoform X1"
                     /calculated_mol_wt=78129
     Region          273..>352
                     /region_name="transpos_IS3"
                     /note="IS3 family transposase; NF033516"
                     /db_xref="CDD:411153"
     CDS             1..702
                     /gene="VRTN"
                     /gene_synonym="C14orf115; vertnin"
                     /coded_by="XM_011536911.3:322..2430"
                     /db_xref="GeneID:55237"
                     /db_xref="HGNC:HGNC:20223"
ORIGIN      
        1 mtsrnqlvqk vlqelqeave ceglegliga sleakqvlss ftlptcregg pglqvlevds
       61 valslypeda prnmlplvck gegsllfeaa smllwgdagl slelrartvv emllhrhyyl
      121 qgmidskvml qavryslcse espemtslpp atleaifdad vkascfpssf snvwhlyala
      181 svlqrniysi ypmrnlkirp yfnrvirprr cdhvpstlhi mwagqpltsh ffrhqyfapv
      241 vgleeveaeg apgvapalpa laplsspakt lellnrepgl syshlcerys vtkstfyrwr
      301 rqsqehrqkv aarfsakhfl qdsfhrggvv plqqflqrfp eisrstyyaw khellgsgtc
      361 palpprevlg meeleklpee qvaeeelecs alavsspgmv lmqraklyle hcislntlvp
      421 yrcfkrrfpg isrstyynwr rkalrrnpsf kpapalsaag tpqlasvgeg avipwkseae
      481 egagnatged ppapgellpl rmplsrwqrr lrraarrqvl sghlpfcrfr lrypslspsa
      541 fwvwkslarg wprglsklqv pvptlgkggq eaeekqekea grdvtavmap pvgassedve
      601 ggpsregalq egataqgqph sgpllsqpvv aaaggrdgrm lvmdmiattk fkaqaklflq
      661 krfqsksfps ykefsalfpl tarstyymwk ralydgltlv dg
//
LOCUS       XP_047287960            1528 aa            linear   PRI 20-MAR-2023
DEFINITION  protein TALPID3 isoform X8 [Homo sapiens].
ACCESSION   XP_047287960
VERSION     XP_047287960.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432004.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1528
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1528
                     /product="protein TALPID3 isoform X8"
                     /calculated_mol_wt=169167
     Region          116..1398
                     /region_name="TALPID3"
                     /note="Hedgehog signalling target; pfam15324"
                     /db_xref="CDD:434634"
     CDS             1..1528
                     /gene="KIAA0586"
                     /gene_synonym="JBTS23; SRTD14; Talpid3"
                     /coded_by="XM_047432004.1:547..5133"
                     /db_xref="GeneID:9786"
                     /db_xref="HGNC:HGNC:19960"
                     /db_xref="MIM:610178"
ORIGIN      
        1 mkgsevslek kkkikmpvkr lrevvsqnhg dhlvllkdel pcvppalsan krlpvgtgts
       61 lngtsrgssd ltsarncyqp llenpmvses dfskdvavqv lpldkieenn kqkandifis
      121 qytmgqkdal rtvlkqnvsl cltgwsdhsg vitthcslyl lrlmrsshls lpsswdyraq
      181 smpvfkevkv hlledagiek davtqetris psgidsattv aaataaaiat aaplikvqsd
      241 leakvnsvte llsklqetdk hlqrvteqqt siqrkqeklh chdhekqmnv fmeqhirhle
      301 klqqqqidiq thfisaalkt ssfqpvsmps sravekysvk pehpnlgscn pslyntfask
      361 qaplkevedt sfdkqksple tpaprrfapv pvsrddelsk renlleeken mevschrgnv
      421 rlleqilnnn dsltrksess nttsltrski gwtpektnrf psceelettk vtmqksddvl
      481 hdlgqkeket nsmvqpkesl smlklpdlpq nsvklqttnt trsvlkdaek ilrgvqnnkk
      541 vleenleaii rakdgaamys linalstnre msekirirkt vdewiktisa eiqdelsrtd
      601 yeqkrfdqkn qrtkkgqnmt kdirtntqdk tvnksviprk hsqkqieehf rnlpmrgmpa
      661 sslqkerkeg llkattviqd edymlqvygk pvyqghrstl kkgpylrfns pspksrpqrp
      721 kviervkgtk vksirtqtdf yatkpkkmds kmkhsvpvlp hgdqqylfsp sremptfsgt
      781 leghlipmai llgqtqsnsd tmppagvivs kphpvtvtts ippssrkvet gvkkpniaiv
      841 emksekkdpp qltvqvlpsv didsisnssa dvlsplsspk easlppvqtw iktpeimkvd
      901 eeevkfpgtn fdeiidviqe eekcdeipds epilefnrsv kadstkyngp pfppvastfq
      961 ptadildkvi erketlensl iqwveqeims riisglfpvq qqiapsisvs vsetseplts
     1021 divegtssga lqlfvdagvp vnsnvikhfv nealaetiav mlgdreakkq gpvatgvsgd
     1081 astnetylpa rvctplptpq ptppcspssp akecvlvktp dsspcdsdhd mafpvkeica
     1141 ekgddmpaim lvntptvtpt ttpppaaavf tptlsdisid klkvsspelp kpwgdgdlpl
     1201 eeenpnspqe elhpraivms vakdeepesm dfpaqppppe pvpfmpfpag tkapspsqmp
     1261 gsdsstlest lsvtvtetet ldkpisegei lfscgqklap kilediglyl tnlndslsst
     1321 lhdavemedd ppsegqvirm shkkfhadai lsfakqnqes avsqqavyhs edlensvgel
     1381 segqrpqlta aaenilmghs lymqppvtnt qsldqqcdpk plsrqfdtvs gsiyedscas
     1441 hgpmslgele lepnsklvlp ttlltaqend vnlpvaaedf sqyqlkqnqd vkqvehkpsq
     1501 sylrvrnksd iapsqqqvli sriknckn
//
LOCUS       XP_016877669             337 aa            linear   PRI 20-MAR-2023
DEFINITION  dual oxidase maturation factor 2 isoform X1 [Homo sapiens].
ACCESSION   XP_016877669
VERSION     XP_016877669.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017022180.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..337
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..337
                     /product="dual oxidase maturation factor 2 isoform X1"
                     /calculated_mol_wt=36327
     Region          10..302
                     /region_name="DuoxA"
                     /note="Dual oxidase maturation factor; pfam10204"
                     /db_xref="CDD:431132"
     CDS             1..337
                     /gene="DUOXA2"
                     /gene_synonym="SIMNIPHOM; TDH5"
                     /coded_by="XM_017022180.2:281..1294"
                     /db_xref="GeneID:405753"
                     /db_xref="HGNC:HGNC:32698"
                     /db_xref="MIM:612772"
ORIGIN      
        1 mtlwngvlpf ypqprhaagf svpllivilv flalaasfll ilpgirghsr wfwlvrvlls
       61 lfigaeivav hfsaewfvgt vntntsykaf saarvtarvr llvglegini tltvarspta
      121 gspmspphpt gtpvhqlnet idyneqftwr lkenyaaeya nalekglpdp vlylaekftp
      181 sspcglyhqy hlaghyasat lwvafcfwll snvllstpap lygglalltt gafalfgvfa
      241 lasissvplc plrlgssalt tqygaafwvt latgvlclfl ggavvslqyv rpsalrtlld
      301 qsakdcsqer ggsplilgdp lhkqaalpdl kcittnl
//
LOCUS       XP_047289054             981 aa            linear   PRI 20-MAR-2023
DEFINITION  probable phospholipid-transporting ATPase IM isoform X23 [Homo
            sapiens].
ACCESSION   XP_047289054
VERSION     XP_047289054.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433098.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..981
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..981
                     /product="probable phospholipid-transporting ATPase IM
                     isoform X23"
                     /calculated_mol_wt=111565
     Region          <1..762
                     /region_name="HAD_like"
                     /note="Haloacid Dehalogenase-like Hydrolases; cl21460"
                     /db_xref="CDD:451251"
     Site            order(181..185,463..464,584,603..604,607..608)
                     /site_type="active"
                     /db_xref="CDD:319763"
     Site            181..185
                     /site_type="other"
                     /note="HAD signature motif I"
                     /db_xref="CDD:319763"
     CDS             1..981
                     /gene="ATP8B4"
                     /gene_synonym="ATPIM"
                     /coded_by="XM_047433098.1:4794..7739"
                     /db_xref="GeneID:79895"
                     /db_xref="HGNC:HGNC:13536"
                     /db_xref="MIM:609123"
ORIGIN      
        1 mgilswkdsk hslnnekiil rgcilrntsw cfgmvifagp dtklmqnsgk tkfkrtsidr
       61 lmntlvlwif gfliclgiil aignsiwesq tgdqfrtflf wnegekssvf sgfltfwsyi
      121 iilntvvpis lyvsvevirl ghsyfinwdr kmyysrkaip avartttlne elgqieyifs
      181 dktgtltqni mtfkrcsing riygevhddl dqkteitqek epvdfsvksq adrefqffdh
      241 hlmesikmgd pkvheflrll alchtvmsee nsageliyqv qspdegalvt aarnfgfifk
      301 srtpetitie elgtlvtyql lafldfnntr krmsvivrnp egqiklyskg adtilfeklh
      361 psnevllslt sdhlsefage glrtlaiayr dlddkyfkew hkmledanaa teerderiag
      421 lyeeierdlm llgatavedk lqegvietvt slslanikiw vltgdkqeta inigyacnml
      481 tddmndvfvi agnnavevre elrkakqnlf gqnrnfsngh vvcekkqqle ldsiveetit
      541 gdyaliingh slahalesdv kndllelacm cktviccrvt plqkaqvvel vkkyrnavtl
      601 aigdgandvs miksahigvg isgqeglqav lasdysfaqf rylqrlllvh grwsyfrmck
      661 flcyffyknf aftlvhfwfg ffcgfsaqtv ydqwfitlfn ivytslpvla mgifdqdvsd
      721 qnsvdcpqly kpgqlnllfn krkfficvlh giytslvlff ipygafynva gedgqhiady
      781 qsfavtmats lvivvsvqia ldtsywtfin hvfiwgsiai yfsilftmhs ngifgifpnq
      841 fpfvgnarhs ltqkciwlvi llttvasvmp vvafrflkvd lyptlsdqir rwqkaqkkar
      901 ppssrrprtr rsssrrsgya fahqegygel itsgknmrak nppptsglek thynstswie
      961 nlckkttdtv ssfsqdktvk l
//
LOCUS       XP_016878443             221 aa            linear   PRI 20-MAR-2023
DEFINITION  CKLF-like MARVEL transmembrane domain-containing protein 4 isoform
            X1 [Homo sapiens].
ACCESSION   XP_016878443
VERSION     XP_016878443.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017022954.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..221
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..221
                     /product="CKLF-like MARVEL transmembrane domain-containing
                     protein 4 isoform X1"
                     /calculated_mol_wt=24197
     Region          49..170
                     /region_name="MARVEL"
                     /note="Membrane-associating domain; pfam01284"
                     /db_xref="CDD:366555"
     CDS             1..221
                     /gene="CMTM4"
                     /gene_synonym="CKLFSF4"
                     /coded_by="XM_017022954.2:219..884"
                     /db_xref="GeneID:146223"
                     /db_xref="HGNC:HGNC:19175"
                     /db_xref="MIM:607887"
ORIGIN      
        1 mrsgeeldgf egeasstsmi sgasspyqpt tepvsqrrgl aglrcdpdyl rgalgrlkva
       61 qvilaliafi cietimacsp ceglyffefv scsafvvtgv llimfslnlh mripqinwnl
      121 tdlvntglsa flffiasivl aalnhragae iaavifgfla taayavntfl avqkwrvsvr
      181 qqstndyira rtesrdvdsr peiqrldtln wkpnghqqvk g
//
LOCUS       XP_016878700             304 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-4 receptor subunit alpha isoform X7 [Homo sapiens].
ACCESSION   XP_016878700
VERSION     XP_016878700.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017023211.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..304
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..304
                     /product="interleukin-4 receptor subunit alpha isoform X7"
                     /calculated_mol_wt=34130
     Region          32..121
                     /region_name="IL4Ra_N"
                     /note="Interleukin-4 receptor alpha chain, N-terminal;
                     pfam09238"
                     /db_xref="CDD:430477"
     Region          123..219
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(123,193,211)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(212..213,215..216)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..304
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /coded_by="XM_017023211.2:81..995"
                     /db_xref="GeneID:3566"
                     /db_xref="HGNC:HGNC:6015"
                     /db_xref="MIM:147781"
ORIGIN      
        1 mgwlcsgllf pvsclvllqv assgnmkvlq eptcvsdyms istcewkmng ptncstelrl
       61 lyqlvfllse ahtcipenng gagcvchllm ddvvsadnyt ldlwagqqll wkgsfkpseh
      121 vkprapgnlt vhtnvsdtll ltwsnpyppd nylynhltya vniwsendpa dfriynvtyl
      181 epslriaast lksgisyrar vrawaqcynt twsewspstk whnsyrepfe qhlllgvsvs
      241 civilavcll cyvsitkikk ewwdqipnpa rsrlvaiiiq daqtleelsy qalalfsgaq
      301 hekg
//
LOCUS       XP_047291126             280 aa            linear   PRI 20-MAR-2023
DEFINITION  stAR-related lipid transfer protein 3 isoform X7 [Homo sapiens].
ACCESSION   XP_047291126
VERSION     XP_047291126.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435170.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..280
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..280
                     /product="stAR-related lipid transfer protein 3 isoform
                     X7"
                     /calculated_mol_wt=31686
     Region          47..>121
                     /region_name="MENTAL"
                     /note="Cholesterol-capturing domain; pfam10457"
                     /db_xref="CDD:431295"
     CDS             1..280
                     /gene="STARD3"
                     /gene_synonym="CAB1; es64; MLN64"
                     /coded_by="XM_047435170.1:140..982"
                     /db_xref="GeneID:10948"
                     /db_xref="HGNC:HGNC:17579"
                     /db_xref="MIM:607048"
ORIGIN      
        1 msklpreltr dlerslpava slgsslshsq slsshllppp ekrraisdvr rtfclfvtfd
       61 llfisllwii elntntgirk nleqeiiqyn fktsffdifv laffrfsgll lgyavlrlrh
      121 wsrrwcpvhs slsrssslsc sakghlatcs pssllsspgw rpgsltsksy prklkrsdgi
      181 lpprlllpvd pccspvlcpr dssihpqnpl qgltmnqmkk llgrkvsllr sgstsargrr
      241 prqwwtrswp rkrtgslrri mnmgtpctpl kfpftarrls
//
LOCUS       XP_016880445             249 aa            linear   PRI 20-MAR-2023
DEFINITION  tektin-3 isoform X3 [Homo sapiens].
ACCESSION   XP_016880445
VERSION     XP_016880445.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017024956.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..249
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..249
                     /product="tektin-3 isoform X3"
                     /calculated_mol_wt=28546
     Region          99..>220
                     /region_name="Tektin"
                     /note="Tektin family; pfam03148"
                     /db_xref="CDD:427167"
     CDS             1..249
                     /gene="TEKT3"
                     /gene_synonym="SPGF81"
                     /coded_by="XM_017024956.2:144..893"
                     /db_xref="GeneID:64518"
                     /db_xref="HGNC:HGNC:14293"
                     /db_xref="MIM:612683"
ORIGIN      
        1 mervgctltt tyahprptpt nflpaistma ssyrdrfphs nlthslslpw rpstyykvas
       61 nspsvapyct rsqrvsentm lpfvsnrttf ftrytpddwy rsnltnyqes ntsrhnsekl
      121 rvdtsrliqd kyqqtrktqa dttqnlgerv ndigfwksei iheldemige tnaltdvkkr
      181 leralmetea plqvareclf hrekrmgidl vhdeveaqll tdgfcwggnh gtiflalpdr
      241 tdsldfgak
//
LOCUS       XP_047293258             406 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen and calcium-binding EGF domain-containing protein 1
            isoform X2 [Homo sapiens].
ACCESSION   XP_047293258
VERSION     XP_047293258.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437302.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..406
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..406
                     /product="collagen and calcium-binding EGF
                     domain-containing protein 1 isoform X2"
                     /calculated_mol_wt=43972
     Region          134..175
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(134,137,152)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     CDS             1..406
                     /gene="CCBE1"
                     /gene_synonym="HKLLS1"
                     /coded_by="XM_047437302.1:308..1528"
                     /db_xref="GeneID:147372"
                     /db_xref="HGNC:HGNC:29426"
                     /db_xref="MIM:612753"
ORIGIN      
        1 mvppppsrgg aargqlgrsl gplllllalg htwtyreepe dgdreicses kiattkypcl
       61 kssgelttcy rkkcckgykf vlgqcipedy dvcaeapceq qctdnfgrvl ctcypgyryd
      121 rerhrkrekp ycldidecas sngtlcahic intlgsyrce cregyiredd gktctrgdky
      181 pndtghekse nmvkagtcca tckefyqmkq tvlqlkqkia llpnnaadlg kyitgdkvla
      241 sntylpgppg lpggqgppgs pgpkgspgfp gmpgppgqpg prgsmgpmgp spdlshikqg
      301 rrgpvgppga pgrdgskger gapgprgspg ppgsfdflll mladirndit elqekvfghr
      361 thssaeefpl pqefpsypea mdlgsgddhp rrtetrdlra prdfyp
//
LOCUS       XP_047293725             336 aa            linear   PRI 20-MAR-2023
DEFINITION  protein SSXT isoform X4 [Homo sapiens].
ACCESSION   XP_047293725
VERSION     XP_047293725.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437769.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..336
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..336
                     /product="protein SSXT isoform X4"
                     /calculated_mol_wt=36755
     CDS             1..336
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /coded_by="XM_047437769.1:60..1070"
                     /db_xref="GeneID:6760"
                     /db_xref="HGNC:HGNC:11340"
                     /db_xref="MIM:600192"
ORIGIN      
        1 mpmgpggmnq sgppppprsh nmpsdgmvgg gppaphmqnq mngqmpgpnh mpmqgpgpnq
       61 lnmtnssmnm pssshgsmgg ynhsvpssqs mpvqnqmtms qgqpmgnygp rpnmsmqpnq
      121 gpmmhqqpps qqynmpqggg qhyqgqqppm gmmgqvnqgn hmmgqrqipp yrppqqgppq
      181 qysgqedyyg dqyshggqgp pegmnqqyyp dghndygyqq psypeqgydr pyedssqhyy
      241 eggnsqygqq qdayqgpppq qgyppqqqqy pgqqgypgqq qgygpsqggp gpqypnypqg
      301 qgqqyggyrp tqpgppqppq qrpygydqgq ygnyqq
//
LOCUS       XP_005258940             364 aa            linear   PRI 20-MAR-2023
DEFINITION  intermediate conductance calcium-activated potassium channel
            protein 4 isoform X2 [Homo sapiens].
ACCESSION   XP_005258940
VERSION     XP_005258940.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005258883.3
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 16% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..364
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..364
                     /product="intermediate conductance calcium-activated
                     potassium channel protein 4 isoform X2"
                     /calculated_mol_wt=39567
     Region          <65..158
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     Region          <174..227
                     /region_name="Ion_trans_2"
                     /note="Ion channel; pfam07885"
                     /db_xref="CDD:429715"
     Region          241..312
                     /region_name="CaMBD"
                     /note="Calmodulin binding domain; pfam02888"
                     /db_xref="CDD:427040"
     CDS             1..364
                     /gene="KCNN4"
                     /gene_synonym="DHS2; hIKCa1; hKCa4; hSK4; IK; IK1; IKCA1;
                     KCa3.1; KCA4; SK4"
                     /coded_by="XM_005258883.3:298..1392"
                     /db_xref="GeneID:3783"
                     /db_xref="HGNC:HGNC:6293"
                     /db_xref="MIM:602754"
ORIGIN      
        1 mhdqhfhllt plphrglscq rgpavhdrqr aaglargadr aaggadraga ggvwaapgar
       61 agpavragfr gaadlpaala gipgprgsaa vpghaaaslp gaprrapaqr rpaqrflpqh
      121 rrsqssplpp lvrgqalheh apwppaarph awpladhrlg avrgreavna tghlsdtlwl
      181 ipitfltigy gdvvpgtmwg kivclctgvm gvcctallva vvarklefnk aekhvhnfmm
      241 diqytkemke saarvlqeaw mfykhtrrke shaarrhqrk llaainafrq vrlkhrklre
      301 qvnsmvdisk mhmilydlqq nlssshrale kqidtlagkl daltellsta lgprqlpeps
      361 qqsk
//
LOCUS       XP_011526452            2093 aa            linear   PRI 20-MAR-2023
DEFINITION  dedicator of cytokinesis protein 6 isoform X1 [Homo sapiens].
ACCESSION   XP_011526452
VERSION     XP_011526452.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011528150.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2093
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..2093
                     /product="dedicator of cytokinesis protein 6 isoform X1"
                     /calculated_mol_wt=234260
     Region          48..157
                     /region_name="DUF3398"
                     /note="Domain of unknown function (DUF3398); pfam11878"
                     /db_xref="CDD:432155"
     Region          558..735
                     /region_name="C2_Dock-C"
                     /note="C2 domains found in Dedicator Of CytoKinesis (Dock)
                     class C proteins; cd08696"
                     /db_xref="CDD:176078"
     Region          1638..2060
                     /region_name="DHR2_DOCK6"
                     /note="Dock Homology Region 2, a GEF domain, of Class C
                     Dedicator of Cytokinesis 6; cd11702"
                     /db_xref="CDD:212575"
     Site            order(1754,1764,1766..1767,1769..1770,1773..1774,
                     1776..1777,1780..1781)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:212575"
     Site            order(1796,1798,1821,1824..1827,1829..1830,1849..1851,
                     1868..1870,1898..1901,1911..1912,1915,1917,1954..1955,
                     1958,1974..1975,1977..1978,1981..1983,1986..1988,
                     1991..1992,1995,2023,2045,2048)
                     /site_type="other"
                     /note="Rac/Cdc42 binding site [polypeptide binding]"
                     /db_xref="CDD:212575"
     Site            1986..1991
                     /site_type="other"
                     /note="nucleotide sensor"
                     /db_xref="CDD:212575"
     CDS             1..2093
                     /gene="DOCK6"
                     /gene_synonym="AOS2; ZIR1"
                     /coded_by="XM_011528150.2:85..6366"
                     /db_xref="GeneID:57572"
                     /db_xref="HGNC:HGNC:19189"
                     /db_xref="MIM:614194"
ORIGIN      
        1 maaserrafa hkinrtvaae vrkqvsrers gsphssrrcs sslgvpltev vepldfedvl
       61 lsrppdaepg plrdlvefpa ddlelllqpr ecrttepgip kdekldaqvr aavemyiedw
      121 vivhrryqyl saayspvttd tqrerqkglp rqvfeqdasg dersgpedsv rkplagvteg
      181 ndsrrgsgsp edtprssgas sifdlrnlaa dsllpsller aapedvdrrn etlrrqhrpp
      241 alltlypapd edeavercsr pepprehfgq rilvkclslk feieiepifg ilalydvrek
      301 kkisenfyfd lnsdsmkgll rahgthpais tlarsaifsv typspdiflv iklekvlqqg
      361 diseccepym vlkevdtakn kekleklrla aeqfctrlgr yrmpfawtav hlanivssag
      421 qldrdsdseg errpawtdrr rrgpqdrass gddacsfsgf rpatltvtnf fkqeaerlsd
      481 edlfkfladm rrpssllrrl rpvtaqlkid ispapenphf clspellhik pypdprgrpt
      541 keilefpare vyaphtsyrn llyvyphsln fssrqgsvrn lavrvqymtg edpsqalpvi
      601 fgksscseft reaftpvvyh nkspefyeef klhlpacvte nhhllftfyh vscqprpgta
      661 letpvgftwi pllqhgrlrt gpfclpvsvd qpppsysvlt pdvalpgmrw vdghkgvfsv
      721 eltavssvhp qdpyldkfft lvhvleegaf pfrlkdtvls egnveqelra slaalrlasp
      781 eplvafshhv ldklvrlvir ppiisgqivn lgrgafeama hvvslvhrsl eaaqdarghc
      841 pqlaayvhya frlpgtepsl pdgappvtvq aatlargsgr paslylarsk sisssnpdla
      901 vapgsvddev srilaskgid rshswvnsay apggskavlr rappycgadp rqllheelal
      961 qwvvsssavr eailqhawff fqlmvksmal hlllgqrldt prklrfpgrf ldditalvgs
     1021 vglevitrvh kdvelaehln aslafflsdl lslvdrgfvf slvrahykqv atrlqsspnp
     1081 aalltlrmef trilcshehy vtlnlpccpl sppaspspsv ssttsqsstf ssqapdpkvt
     1141 smfelsgpfr qqhflaglll telalalepe aegafllhkk aisavhsllc ghdtdpryae
     1201 atvkarvael ylpllsiard tlprlhdfae gpgqrsrlas mldsdtegeg diagtinpsv
     1261 amaiaggpla pgsrasisqg pptasragca lsaessrtll acvlwvlknt epallqrwat
     1321 dltlpqlgrl ldllylclaa feykgkkafe rinsltfkks ldmkarleea ilgtigarqe
     1381 mvrrsrersp fgnpenvrwr ksvthwkqts drvdktkdem ehealvegnl ateaslvvld
     1441 tleiivqtvm lsearesvlg avlkvvlysl gsaqsalflq hglatqralv skfpellfee
     1501 dtelcadlcl rllrhcgsri stirthasas lyllmrqnfe ighnfarvkm qvtmslsslv
     1561 gttqnfseeh lrrslktilt yaeedmglrd stfaeqvqdl mfnlhmiltd tvkmkehqed
     1621 pemlidlmyr iargyqgspd lrltwlqnma gkhaelgnha eaaqcmvhaa alvaeylall
     1681 edhrhlpvgc vsfqnissnv leesaisddi lspdeegfcs gkhftelglv glleqaagyf
     1741 tmgglyeavn evyknlipil eahrdykkla avhgklqeaf tkimhqssgw ervfgtyfrv
     1801 gfygahfgdl deqefvykep sitklaeish rleefyterf gddvveiikd snpvdkskld
     1861 sqkayiqity vepyfdtyel kdrvtyfdrn yglrtflfct pftpdgrahg elpeqhkrkt
     1921 llstdhafpy iktrirvchr eetvltpvev aiedmqkktr elafateqdp pdakmlqmvl
     1981 qgsvgptvnq gplevaqvfl aeipedpklf rhhnklrlcf kdfckkceda lrknkaligp
     2041 dqkeyhrele rnycrlreal qplltqrlpq lmaptppglr nslnrasfrk adl
//
LOCUS       XP_047295369             330 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium-binding mitochondrial carrier protein SCaMC-3 isoform X30
            [Homo sapiens].
ACCESSION   XP_047295369
VERSION     XP_047295369.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439413.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..330
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..330
                     /product="calcium-binding mitochondrial carrier protein
                     SCaMC-3 isoform X30"
                     /calculated_mol_wt=36917
     Region          7..143
                     /region_name="FRQ1"
                     /note="Ca2+-binding protein, EF-hand superfamily [Signal
                     transduction mechanisms]; COG5126"
                     /db_xref="CDD:227455"
     Region          185..272
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          281..>319
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     CDS             1..330
                     /gene="SLC25A23"
                     /gene_synonym="APC2; MCSC2; SCaMC-3; SCAMC3"
                     /coded_by="XM_047439413.1:165..1157"
                     /db_xref="GeneID:79085"
                     /db_xref="HGNC:HGNC:19375"
                     /db_xref="MIM:608746"
ORIGIN      
        1 mrgspgdaer rqrwgrlfee ldsnkdgrvd vhelrqglar lgggnpdpga qqgissegda
       61 dpdggldlee fsrylqereq rlllmfhsld rnqdghidvs eiqqsfralg isisleqaek
      121 ilhsmdrdgt mtidwqewrd hfllhslenv edvlyfwkhs tvldigeclt vpdefskqek
      181 ltgmwwkqlv agavagavsr tgtapldrlk vfmqvhaskt nrlnilgglr smvleggirs
      241 lwrgnginvl kiapesaikf mayeqtlknw wlqqyshdsa dpgilvllac gtisstcgqi
      301 asyplalvrt rmqaqaggha msslmertmw
//
LOCUS       XP_047295404             671 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 665 isoform X4 [Homo sapiens].
ACCESSION   XP_047295404
VERSION     XP_047295404.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439448.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 41% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..671
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..671
                     /product="zinc finger protein 665 isoform X4"
                     /calculated_mol_wt=76169
     Region          157..545
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          173..193
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          201..221
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          229..249
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          257..277
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          285..305
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(290,292,294,296..297,300..301,304,318,320,324..325,
                     328..329,332,346,348,350,352..353,356..357,360)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          313..333
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          341..361
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          369..389
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          397..417
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          425..445
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          453..473
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          481..501
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          509..529
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          537..557
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(542,544,546,548..549,552..553,556,570,572,576..577,
                     580..581,584,598,600,602,604..605,608..609,612)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          549..573
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          565..585
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          577..602
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          593..613
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          605..629
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          621..641
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          634..658
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          647..669
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          649..669
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..671
                     /gene="ZNF665"
                     /gene_synonym="ZFP160L"
                     /coded_by="XM_047439448.1:122..2137"
                     /db_xref="GeneID:79788"
                     /db_xref="HGNC:HGNC:25885"
ORIGIN      
        1 mvcpcsglll avggmpprcq grtleeeeee gkgvrdgsss disckcvntd lppkgknnmg
       61 eafytvkler lescdtvgls fqevqkntyd fecqwkddeg nyktvlmlqk enlpgrraqr
      121 drraagnrhi enqlgvsfqs hlpelqqfqh egkiyeynqv ekspnnrgkh ykcdecgkvf
      181 sqnsrltshk rihtgekpyq cnkcgkaftv rsnltihqvi htgekpykcn ecgkvfsqps
      241 nlaghqriht gekpykcnec gkafrahskl tthqvihtge kpykckecgk cftqnshlas
      301 hrrihtgekp ykcnecgkaf svrssltthq tihtgekpyk cnecgkvfrh nsylakhrri
      361 htgekpykcn ecgkafsmhs nltkhqiiht gekpfkcnec vkvftqyshl anhrrihtge
      421 kpyrcdecgk afsvrssltt hqaihtgekp ykcndcgkvf tqnshlashr gihsgekpyk
      481 cdecgkafsq tsqlarhwrv htgekpykcn ecgkafsvhs sltihqtiht gqkpykcndc
      541 gkvfrhnsyl aihqrihtge kpykcnecgk afsvhsnlat hqvihtgekp ykcnecgkvf
      601 tqnshlanhr rihtgekpyr cnecgkafsv rstltthmav htgdkpykcn qcgkvftqns
      661 nlakhrrihs g
//
LOCUS       XP_011525788             436 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 461 isoform X1 [Homo sapiens].
ACCESSION   XP_011525788
VERSION     XP_011525788.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011527486.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..436
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..436
                     /product="zinc finger protein 461 isoform X1"
                     /calculated_mol_wt=51385
     Region          121..140
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          148..168
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          160..185
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          176..196
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(181,183,185,187..188,191..192,195,209,211,215..216,
                     219..220,223,237,239,241,243..244,247..248,251)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          <200..388
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          204..224
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          232..252
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          260..280
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          288..308
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          316..336
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(321,323,325,327..328,331..332,335,349,351,355..356,
                     359..360,363,377,379,381,383..384,387..388,391)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          344..364
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          372..392
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          400..417
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..436
                     /gene="ZNF461"
                     /gene_synonym="GIOT-1; GIOT1; HZF28"
                     /coded_by="XM_011527486.3:268..1578"
                     /db_xref="GeneID:92283"
                     /db_xref="HGNC:HGNC:21629"
                     /db_xref="MIM:608640"
ORIGIN      
        1 meefkshspe rsifsaiweg nchfeqhqgq eegyfrqlmi nhenmpifsq htlltqefyd
       61 rekiseckkc rkifsyhlff shhkrthske lseckectei vntpclfkqq tiqngdkcne
      121 ckecwkafvh csqlkhlrih ngekryecne cgkafnygse ltlhqrihtg ekpyeckecg
      181 kafrqrsqlt qhqrlhtgek pyeckqcgka firgfqlteh lrlhtgekpy eckecgktfr
      241 hrshltihqr ihtgekpyec recgkafsyh ssfshhqkih sgkkpyeche cgkafcdglq
      301 ltlhqrihtg ekpyeckecg ktfrqcshlk rhqrihtgek phecmicgka frlhshliqh
      361 qrihtgekpy eckecgkafs yhssfshhqr ihsgkkpyqc gkafnhrlql nlhqtlhtge
      421 kpvrfpllpp hpslas
//
LOCUS       XP_047299008             171 aa            linear   PRI 20-MAR-2023
DEFINITION  rab-like protein 2A isoform X7 [Homo sapiens].
ACCESSION   XP_047299008
VERSION     XP_047299008.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443052.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..171
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..171
                     /product="rab-like protein 2A isoform X7"
                     /calculated_mol_wt=19045
     Region          22..124
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            28..35
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206648"
     Site            53
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206648"
     Site            57..59
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206648"
     Site            96..98
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206648"
     CDS             1..171
                     /gene="RABL2A"
                     /coded_by="XM_047443052.1:189..704"
                     /db_xref="GeneID:11159"
                     /db_xref="HGNC:HGNC:9799"
                     /db_xref="MIM:605412"
ORIGIN      
        1 maedktkpse ldqgkydadd nvkiiclgds avgksklmer flmdgfqpqq lstyaltlyk
       61 htatvdgkti lvadinvtqk sfnfakkfsl plyfvsaadg tnvvkvwlta elfndairla
      121 vsykqnsqdf mdeifqelen fsleqeeedv pdqeqsssie tpseevasph s
//
LOCUS       XP_011508984            1294 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin and armadillo repeat-containing protein isoform X6 [Homo
            sapiens].
ACCESSION   XP_011508984
VERSION     XP_011508984.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011510682.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1294
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1294
                     /product="ankyrin and armadillo repeat-containing protein
                     isoform X6"
                     /calculated_mol_wt=146423
     Region          <526..598
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          533..567
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          570..600
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(571,575..576,579..581,583..584,588,591,600,602,604,
                     608..609,612..614,616..617,621,624,636,638,640,644..645,
                     648..650,652..653,657,660)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          574..669
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          602..636
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          638..663
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          703..727
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          737..769
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          744..>949
                     /region_name="PLN03200"
                     /note="cellulose synthase-interactive protein;
                     Provisional"
                     /db_xref="CDD:215629"
     Site            order(760,764,768,801,805,809,841,845,849)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          776..812
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          816..850
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          858..898
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          1005..1029
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Site            order(1020,1024,1028,1064,1068,1072,1112,1116,1120)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          1037..1075
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          1086..1121
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     CDS             1..1294
                     /gene="ANKAR"
                     /coded_by="XM_011510682.3:197..4081"
                     /db_xref="GeneID:150709"
                     /db_xref="HGNC:HGNC:26350"
                     /db_xref="MIM:609803"
ORIGIN      
        1 mlrlpkkglp rfeqvqdedt ylenlaiqrn asaffekydr seiqelltta lvswlsaked
       61 vrsqvdlpcg imsqmnnvgf stailltpvd ptalldyrev hqmirelaig iyclnqipsi
      121 sleanydqss scqlppayyd trigqilini dymlkalwhg iympkekrar fselwraimd
      181 idpdgkpqtn kdifsefssa gltditkdpd fneiydedvn edptydpnsp eetavfmkya
      241 enimlkltfs ttqiqqyenv fifetgywlt naikynqdyl dictyqrlqq rlylqkkiiq
      301 khfekkkdir rgigylklic flipfllslk kkmkvpylss llqpfsddkv kterelppfi
      361 ygrdfkcqnf hykenqyfhv hggiefdist psienaledf qknlekirdc aantfiedsg
      421 ykeyysipvm efhgksyyvi yfeletfyqq lyktqwwgai neivnnlrlk rlpltdaqlh
      481 eqfkkklgfk ramkcksipf gmksavergl savfhtfsrk tssstinvsd eagytifhha
      541 alhnrvsiic qlcnanfkvn qrrfvtfsqg ptplhlaaqa cslettvcll cskadytlse
      601 krgwmpihfa afydnvciii alcrkdpsll eaeataenqc tplllaatsg aldtiqylfs
      661 iganwrktdi kgnniihlsv ltfhtevlky iiklnipelp vwktlvemlq cesykrrmma
      721 vmslevicla ndqywrcild agtipalinl lksskiklqc ktvgllsnis thksavhalv
      781 eaggipslin llvcdepevh srcavilydi aqcenkdvia kyngipslin llnlnienvl
      841 vnvmncirvl cignennqra vrehkglpyl irflssdsgl fnlflnsfed vlkavssaai
      901 aevgrdnkei qdaiamegai pplvalfkgk qisvqmkgam aveslashna liqkafleks
      961 ltkyllkllk afqidvkeqg avalwalagq tlkqqkymae qigysfiinm llspsakmqy
     1021 vggeavials kdsrmhqnqi cegngiaplv rllristiae gtllsvirav gsicigvaht
     1081 snpvsqqlvv denafpvliq llrnhpspni kvevafslac ivlgndvlqk dlhenegfey
     1141 advlyllhst ekdiclragy altlfafnnr fqqylilesg imtisiferf lestveteka
     1201 maafqivvla kvirdmdhit lsargvtilv dslysvqtst ivltgnlias lahsragipe
     1261 afttlgtiqr lcyhlysgie esgeewrtih nsyl
//
LOCUS       XP_047300468             667 aa            linear   PRI 20-MAR-2023
DEFINITION  neuronal PAS domain-containing protein 2 isoform X10 [Homo
            sapiens].
ACCESSION   XP_047300468
VERSION     XP_047300468.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444512.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..667
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..667
                     /product="neuronal PAS domain-containing protein 2 isoform
                     X10"
                     /calculated_mol_wt=73933
     Region          1..77
                     /region_name="bHLH-PAS_NPAS2_PASD4"
                     /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS)
                     domain found in neuronal PAS domain-containing protein 2
                     (NPAS2) and similar proteins; cd19737"
                     /db_xref="CDD:381580"
     Site            order(11,14..15,18..19,21..22,26,44..45)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381580"
     Site            order(24..25,28..29,31..32,35..36,45..46,49..50,53,56..57,
                     59)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381580"
     Region          84..195
                     /region_name="PAS"
                     /note="PAS fold; pfam00989"
                     /db_xref="CDD:395786"
     Region          <194..245
                     /region_name="PAS_3"
                     /note="PAS fold; pfam08447"
                     /db_xref="CDD:430001"
     CDS             1..667
                     /gene="NPAS2"
                     /gene_synonym="bHLHe9; MOP4; PASD4"
                     /coded_by="XM_047444512.1:164..2167"
                     /db_xref="GeneID:4862"
                     /db_xref="HGNC:HGNC:7895"
                     /db_xref="MIM:603347"
ORIGIN      
        1 mdedekdrak rasrnksekk rrdqfnvlik elssmlpgnt rkmdkttvle kvigflqkhn
       61 evsaqteicd iqqdwkpsfl sneeftqlml ealdgfiiav ttdgsiiyvs dsitpllghl
      121 psdvmdqnll nflpeqehse vykilsshml vtdspspeyl ksdsdlefyc hllrgslnpk
      181 efptyeyikf vgnfrsynnv mqfgkgkscc yrfltkgqqw iwlqthyyit yhqwnskpef
      241 ivcthsvvsy advrverrqe laledppsea lhssalkdkg ssleprqhfn tldvgasgln
      301 tshspsassr sshksshtam septstptkl maeastpalp rsatlpqelp vpglsqaatm
      361 paplpspssc dltqqllpqt vlqstpapma qfsaqfsmfq tikdqleqrt rilqanirwq
      421 qeelhkiqeq lclvqdsnvq mflqqpavsl sfsstqrpea qqqlqqrsaa vtqpqlgagp
      481 qlpgqissaq vtsqhllres svistqgpkp mrssqlmqss grsgsslvsp fssataalpp
      541 slnlttpast sqdasqcqps pdfshdrqlr lllsqpiqpm mpgscdarqp sevsrtgrqv
      601 kyaqsqtvfq npdahpanss sapmpvllmg qavlhpsfpa sqpsplqpaq arqqppqhyl
      661 qvlghtl
//
LOCUS       XP_016860229             905 aa            linear   PRI 20-MAR-2023
DEFINITION  ranBP2-like and GRIP domain-containing protein 3 isoform X4 [Homo
            sapiens].
ACCESSION   XP_016860229
VERSION     XP_016860229.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004740.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..905
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..905
                     /product="ranBP2-like and GRIP domain-containing protein 3
                     isoform X4"
                     /calculated_mol_wt=103040
     Region          <30..>205
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     Site            order(34..35,37,61,64..65,68..69,71..72,95,98..99,
                     102..103,106)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          59..89
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          60..92
                     /region_name="TPR_1"
                     /note="Tetratricopeptide repeat; pfam00515"
                     /db_xref="CDD:425728"
     CDS             1..905
                     /gene="RGPD3"
                     /gene_synonym="RGP3"
                     /coded_by="XM_017004740.3:126..2843"
                     /db_xref="GeneID:653489"
                     /db_xref="HGNC:HGNC:32416"
                     /db_xref="MIM:612706"
ORIGIN      
        1 mscskayger yvasvqgsap sprkkstrgf yfaklyyeak eydlakkyic tyinvremdp
       61 rahrflglly eleentekav ecyrrsveln ptqkdlvlki aellckndvt dgraeywver
      121 aaklfpgspa iyklkeqlld cegedgwnkl fdliqselyv rpddvhvnir lvelyrstkr
      181 lkdavarche aernialrss lewnscvvqt lkeyleslqc lesdksdwra tntdlllaya
      241 nlmlltlstr dvqesrelle sfdsalqsak sslggndels atflemkghf ymhagslllk
      301 mgqhgnnvqw ralselaalc yliafqvprp kiklikgeag qnllemmacd rlsqsghmll
      361 nlsrgkqdfl kvvvetfank sgqsalydal fssqspkdts flgsddigni dvqepeledl
      421 arydvgaira hngslqhltw lglqwnslpa lpgirkwlkq lfhhlpqets rletnapesi
      481 cildlevfll gvvytshlql kekcnshhss yqplclplpv ckqlcterqk swwdavctli
      541 hrkavpgnsa klrllvqhei ntlraqekhg lqpallvhwa kclqkmgsgl nsfydqreyi
      601 grsvhywkkv lpllkiikkk nsipepidpl fkhfhsvdiq aseiveyeed ahvtfailda
      661 vngniedamt afesiksvvs ywnlalifhr kaediandal speeqeeckn ylrktrgyli
      721 kilddsdsnl svvkklpvpl esvkemlksv mqelenyseg gplykngslr nadseikhst
      781 psptkyslsp sksykyspkt pprwaedqns llkmirqevk aikeemqelk lnssksashh
      841 rwptenygpd svpdgyqgsq tfhgapltea ahrhftiekh gdskwiiyrf tkqlcgtera
      901 rakis
//
LOCUS       XP_047301974             380 aa            linear   PRI 20-MAR-2023
DEFINITION  cytoplasmic protein NCK2 isoform X1 [Homo sapiens].
ACCESSION   XP_047301974
VERSION     XP_047301974.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446018.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..380
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..380
                     /product="cytoplasmic protein NCK2 isoform X1"
                     /calculated_mol_wt=42784
     Region          2..59
                     /region_name="SH3_Nck2_1"
                     /note="First Src Homology 3 domain of Nck2 adaptor
                     protein; cd11899"
                     /db_xref="CDD:212832"
     Site            order(13,16..17,19..20,36..38,50,52..55)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212832"
     Region          114..168
                     /region_name="SH3_Nck2_2"
                     /note="Second Src Homology 3 domain of Nck2 adaptor
                     protein; cd11902"
                     /db_xref="CDD:212835"
     Site            order(120,122,125,129,147..148,161,163..164)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212835"
     Region          198..256
                     /region_name="SH3_Nck2_3"
                     /note="Third Src Homology 3 domain of Nck2 adaptor
                     protein; cd11903"
                     /db_xref="CDD:212836"
     Site            order(204,206,209,213,233..234,248,250..251)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212836"
     Site            order(235,249..250,252..254)
                     /site_type="other"
                     /note="Lim4 domain interface [polypeptide binding]"
                     /db_xref="CDD:212836"
     Region          283..380
                     /region_name="SH2_Nck2"
                     /note="Src homology 2 (SH2) domain found in Nck; cd10409"
                     /db_xref="CDD:198272"
     Site            order(292,311,313..315,321,334)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198272"
     Site            order(333,344,347,364..366)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198272"
     CDS             1..380
                     /gene="NCK2"
                     /gene_synonym="GRB4; NCKbeta"
                     /coded_by="XM_047446018.1:1070..2212"
                     /db_xref="GeneID:8440"
                     /db_xref="HGNC:HGNC:7665"
                     /db_xref="MIM:604930"
ORIGIN      
        1 mteeviviak wdytaqqdqe ldikknerlw llddsktwwr vrnaanrtgy vpsnyverkn
       61 slkkgslvkn lkdtlglgkt rrktsardas ptpstdaeyp angsgadriy dlnipafvkf
      121 ayvaeredel slvkgsrvtv mekcsdgwwr gsyngqigwf psnyvleevd eaaaespsfl
      181 slrkgaslsn gqgsrvlhvv qtlypfssvt eeelnfekge tmeviekpen dpewwkckna
      241 rgqvglvpkn yvvvlsdgpa lhpahapqis ytgpsssgrf agrewyygnv trhqaecaln
      301 ergvegdfli rdsesspsdf svslkasgkn khfkvqlvdn vycigqrrfh tmdelvehyk
      361 kapiftsehg eklylvralq
//
LOCUS       XP_016860877            1226 aa            linear   PRI 20-MAR-2023
DEFINITION  tubulin monoglutamylase TTLL4 isoform X1 [Homo sapiens].
ACCESSION   XP_016860877
VERSION     XP_016860877.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017005388.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1226
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1226
                     /product="tubulin monoglutamylase TTLL4 isoform X1"
                     /calculated_mol_wt=135786
     Region          654..946
                     /region_name="TTL"
                     /note="Tubulin-tyrosine ligase family; pfam03133"
                     /db_xref="CDD:397308"
     CDS             1..1226
                     /gene="TTLL4"
                     /coded_by="XM_017005388.2:424..4104"
                     /db_xref="GeneID:9654"
                     /db_xref="HGNC:HGNC:28976"
                     /db_xref="MIM:618738"
ORIGIN      
        1 masagtqhys iglrqknsfk qsgpsgtvpa tppekpsegr vwpqahqqvk piwklekkqv
       61 etlsaglgpg llgvppqpay ffcpstlcss gttaviaghs sscylhslpd lfnstllyrr
      121 ssyrqkpyqq lesfclrssp sekspfslpq kslpvsltan katssmvfsm aqpmassste
      181 pylclaaage npsgkslasa isgkipspls ssykpmlnnn sfmwpnstpv pllqttqglk
      241 pvsppkiqpv swhhsggtgd capqpvdhkv pksigtvpad asahialsta sshdtsttsv
      301 asswynrnnl amraeplsca lddssdsqdp tkeirfteav rkltargfek mprqgcqleq
      361 ssflnpsfqw nvlnrsrrwk ppavnqqfpq edagsvrrvl pgasdtlgld ntvfctkris
      421 ihllashasg lnhnpacesv idssafgegk apgppfpqtl gianvatrls siqlgqseke
      481 rpeearelds sdrdissatd lqpdqaeted teeelvdgle dccsrdenee eegdsecssl
      541 savspsesva misrscmeil tkplsnhekv vrpaliyslf pnvpptiyfg trderveklp
      601 weqrkllrwk mstvtpnivk qtigrshfki skrnddwlgc wghhmkspsf rsirehqkln
      661 hfpgsfqigr kdrlwrnlsr mqsrfgkkef sffpqsfilp qdakllrkaw esssrqkwiv
      721 kppasargig iqvihkwsql pkrrpllvqr ylhkpylisg skfdlriyvy vtsydplriy
      781 lfsdglvrfa sckyspsmks lgnkfmhltn ysvnkknaey qanademacq ghkwalkalw
      841 nylsqkgvns daiwekikdv vvktiissep yvtsllkmyv rrpyschelf gfdimldenl
      901 kpwvlevnis pslhssspld isikgqmird llnlagfvlp naediissps scsssttslp
      961 tspgdkcrma pehvtaqkmk kayyltqkip dqdfyasvld vltpddvril vemedefsrr
     1021 gqferifpsh issrylrffe qpryfniltt qweqkyhgnk lkgvdllrsw cykgfhmgvv
     1081 sdsapvvsaa svedssfsgp sllclmsaag vglwslptsl ltiskddvil nafsksetsk
     1141 lgkqsscevs lllsedgttp kskktqagls pypqkpsssk dsedtskeps lstqtlpvik
     1201 csgqtsrlsa sstfqsisds llavsp
//
LOCUS       XP_047302839             238 aa            linear   PRI 20-MAR-2023
DEFINITION  translation initiation factor IF-2-like [Homo sapiens].
ACCESSION   XP_047302839
VERSION     XP_047302839.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446883.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 17% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..238
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..238
                     /product="translation initiation factor IF-2-like"
                     /calculated_mol_wt=23701
     CDS             1..238
                     /gene="LOC124908047"
                     /coded_by="XM_047446883.1:1..717"
                     /db_xref="GeneID:124908047"
ORIGIN      
        1 midakddkll vyqnqpadak tgspgrlpgg ggpqldrrrp ggaggggggg egeggwrsge
       61 svkrrtrpgp gpfqaggpng stqpatppsw grrvplqagv grvwpsggpg qqdwesrgll
      121 pvpcsrqtrv sralsftrgg rppmpslcea taprsagvta prrarslqga paagwtlpgg
      181 ttagpappip rhaptsagtv asspaasppa pghppaaspg sapaaesacc nllyeehl
//
LOCUS       XP_005260359             424 aa            linear   PRI 20-MAR-2023
DEFINITION  protein LSM14 homolog B isoform X5 [Homo sapiens].
ACCESSION   XP_005260359
VERSION     XP_005260359.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005260302.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..424
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..424
                     /product="protein LSM14 homolog B isoform X5"
                     /calculated_mol_wt=45828
     Region          6..79
                     /region_name="LSm14_N"
                     /note="Like-Sm protein 14, N-terminal domain; cd01736"
                     /db_xref="CDD:212483"
     Site            order(14..20,22..34,37..41)
                     /site_type="other"
                     /note="Sm1 motif"
                     /db_xref="CDD:212483"
     Site            order(32,34,70)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:212483"
     Site            66..77
                     /site_type="other"
                     /note="Sm2 motif"
                     /db_xref="CDD:212483"
     Region          286..388
                     /region_name="FDF"
                     /note="FDF domain; pfam09532"
                     /db_xref="CDD:430668"
     CDS             1..424
                     /gene="LSM14B"
                     /gene_synonym="bA11M20.3; C20orf40; FAM61B; FT005; LSM13;
                     RAP55B"
                     /coded_by="XM_005260302.4:193..1467"
                     /db_xref="GeneID:149986"
                     /db_xref="HGNC:HGNC:15887"
ORIGIN      
        1 msgssgtpyl gskisliska qiryegilyt idtdnstval akvrsfgted rptdrpappr
       61 eeiyeyiifr gsdikditvc eppkaqhtlp qdpaivqssl gsasaspfqp hvpyspfrgm
      121 apygplaass llsqqyaasl gleklvsppa saaasspsss pspqpvseld lssepqqlta
      181 kgagfpsipv gkspmveqav qtgsadnlna kkllpgkgtt gtqlngrqaq pssktasdvv
      241 qpaavqaqgq vndenrrpqr rrsgnrrtrn rsrgqnrptn vkentikfeg dfdfesanaq
      301 fnreeldkef kkklnfkddk aekgeekdla vvtqsaeapa eedllgpncy ydksksffdn
      361 isselktssr rttwaeerkl ntetfgvsgr flrgrssrgg frggrgngtt rrnptshrag
      421 tgrv
//
LOCUS       XP_047295951             704 aa            linear   PRI 20-MAR-2023
DEFINITION  band 4.1-like protein 1 isoform X28 [Homo sapiens].
ACCESSION   XP_047295951
VERSION     XP_047295951.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439995.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..704
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..704
                     /product="band 4.1-like protein 1 isoform X28"
                     /calculated_mol_wt=78990
     Region          99..288
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          283..376
                     /region_name="FERM_C_4_1_family"
                     /note="FERM domain C-lobe of Protein 4.1 family; cd13184"
                     /db_xref="CDD:270005"
     Site            order(292,309,311,317)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270005"
     Site            order(321,326..329,364,368,371..372)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Site            364..375
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Region          385..428
                     /region_name="FA"
                     /note="FERM adjacent (FA); pfam08736"
                     /db_xref="CDD:430180"
     Region          481..>512
                     /region_name="SAB"
                     /note="SAB domain; pfam04382"
                     /db_xref="CDD:427911"
     Region          <611..690
                     /region_name="4_1_CTD"
                     /note="4.1 protein C-terminal domain (CTD); pfam05902"
                     /db_xref="CDD:428665"
     CDS             1..704
                     /gene="EPB41L1"
                     /gene_synonym="4.1N; MRD11"
                     /coded_by="XM_047439995.1:172..2286"
                     /db_xref="GeneID:2036"
                     /db_xref="HGNC:HGNC:3378"
                     /db_xref="MIM:602879"
ORIGIN      
        1 mttetgpdse vkkaqeeapq qpeaaaavtt pvtpaghghp eansnekhps qqdtrpaeqs
       61 ldmeekdyse adglserttp skaqkspqki akkyksaicr vtlldaseye cevekhgrgq
      121 vlfdlvcehl nllekdyfgl tfcdadsqkn wldpskeikk qirsspwnfa ftvkfyppdp
      181 aqlteditry ylclqlradi itgrlpcsfv thallgsyav qaelgdydae ehvgnyvsel
      241 rfapnqtrel eerimelhkt yrgmtpgeae ihflenakkl smygvdlhha kdsegidiml
      301 gvcanglliy rdrlrinrfa wpkilkisyk rsnfyikirp geyeqfesti gfklpnhrsa
      361 krlwkvcieh htffrlvspe pppkgflvmg skfrysgrtq aqtrqasali drpapffers
      421 sskrytmsrs ldgaefsrpa svsenhdagp dgdkrdedge sggqrseaee gevrtptkik
      481 elkfldkped vllkhqasin elkrtlkepn sklihrdrdw ererrlpssp aspspkgtpe
      541 kanepvktet mtvsslairk kiepeavlqt rvsamdntqe nslksgkgaa amipgpqtva
      601 teirslspii gkdvltstyg ataetlstst tthvtktvkg gfsetriekr iiitgdedvd
      661 qdqalalaik eaklqhpdml vtkavvyret dpspeerdkk pqes
//
LOCUS       XP_011527877             874 aa            linear   PRI 20-MAR-2023
DEFINITION  neural cell adhesion molecule 2 isoform X1 [Homo sapiens].
ACCESSION   XP_011527877
VERSION     XP_011527877.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011529575.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..874
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..874
                     /product="neural cell adhesion molecule 2 isoform X1"
                     /calculated_mol_wt=97456
     Region          46..138
                     /region_name="IgI_1_NCAM-2"
                     /note="First immunoglobulin (Ig)-like domain of neural
                     cell adhesion molecule NCAM-2; member of the I-set of Ig
                     superfamily (IgSF) domains; cd05866"
                     /db_xref="CDD:409452"
     Region          46..51
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409452"
     Region          54..58
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409452"
     Region          60..70
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409452"
     Site            order(61,63..64)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:409452"
     Region          74..80
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409452"
     Region          83..85
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409452"
     Region          91..97
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409452"
     Region          99..107
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409452"
     Region          114..121
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409452"
     Region          126..137
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409452"
     Region          142..218
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          170..174
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          193..197
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          234..323
                     /region_name="IgI_1_MuSK"
                     /note="agrin-responsive first immunoglobulin-like domains
                     (Ig1) of the MuSK ectodomain; a member of the I-set of
                     IgSF domains; cd20970"
                     /db_xref="CDD:409562"
     Region          234..237
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409562"
     Region          242..247
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409562"
     Region          253..260
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409562"
     Region          266..271
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409562"
     Region          273..275
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409562"
     Region          282..285
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409562"
     Region          289..295
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409562"
     Region          302..309
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409562"
     Region          315..323
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409562"
     Region          325..422
                     /region_name="IgI_NCAM-2"
                     /note="Immunoglobulin (Ig)-like I-set domain of Neural
                     Cell Adhesion Molecule 2 (NCAM-2); cd05870"
                     /db_xref="CDD:143278"
     Region          325..330
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:143278"
     Region          334..338
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:143278"
     Region          342..350
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:143278"
     Region          356..362
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:143278"
     Region          365..368
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:143278"
     Region          378..384
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:143278"
     Region          387..393
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:143278"
     Region          401..409
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:143278"
     Region          412..422
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:143278"
     Region          426..504
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          443..447
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          456..460
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          483..487
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          497..502
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          511..514
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          521..613
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(521,586,601)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(602..603,605..606)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          619..703
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(619,683,698)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(699..700,702..703)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..874
                     /gene="NCAM2"
                     /gene_synonym="NCAM21"
                     /coded_by="XM_011529575.4:112..2736"
                     /db_xref="GeneID:4685"
                     /db_xref="HGNC:HGNC:7657"
                     /db_xref="MIM:602040"
ORIGIN      
        1 mvrsdsggqv yldyhnrqgl fvdwkyneal yleegqpety yrtallqvti slskvelsvg
       61 eskfftctai gepesidwyn pqgekiistq rvvvqkegvr srltiynani edagiyrcqa
      121 tdakgqtqea tvvleiyqkl tfrevvspqe fkqgedaevv crvssspapa vswlyhneev
      181 ttisdnrfam lannnlqiln inksdegiyr cegrvearge idfrdiiviv nvppaismpq
      241 ksfnataerg eemtfscras gspepaiswf rngklieene kyilkgsnte ltvrniinsd
      301 ggpyvcratn kagedekqaf lqvfvqphii qlknettyen gqvtlvcdae gepipeitwk
      361 ravdgftfte gdksldgrie vkgqhgsssl hikdvklsds grydceaasr igghqksmyl
      421 dieyapkfis nqtiyysweg npiniscdvk snppasihwr rdklvlpakn ttnlktystg
      481 rkmileiapt sdndfgrync tatnhigtrf qeyilaladv psspygvkii elsqttakvs
      541 fnkpdshggv pihhyqvdvk evaseiwkiv rshgvqtmvv lnnlepntty eirvaavngk
      601 gqgdyskiei fqtlpvreps ppsihgqpss gksfklsitk qddggapile yivkyrskdk
      661 edqwlekkvq gnkdhiileh lqwtmgyevq itaanrlgys eptvyefsmp pkpniikdtl
      721 fnglglgavi glgvaallli lvvtdvscff irqcgllmci trrmcgkksg ssgkskelee
      781 gkaaylkdgs kepivemrte dervtnhedg spvnepnett pltepeyvaw sahlcsngkl
      841 plkeedgkea lnpetieikv sndiiqsked dska
//
LOCUS       XP_047296864             321 aa            linear   PRI 20-MAR-2023
DEFINITION  SET domain-containing protein 4 isoform X3 [Homo sapiens].
ACCESSION   XP_047296864
VERSION     XP_047296864.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440908.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..321
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..321
                     /product="SET domain-containing protein 4 isoform X3"
                     /calculated_mol_wt=36434
     Region          46..287
                     /region_name="SET_SETD4"
                     /note="SET domain found in SET domain-containing protein 4
                     (SETD4) and similar proteins; cd19177"
                     /db_xref="CDD:380954"
     Site            order(59..60,206..207,233..238,272,284,286)
                     /site_type="other"
                     /note="putative SAM binding site"
                     /db_xref="CDD:380954"
     Site            order(59..60,77,204..209,233..237,245,270..273)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:380954"
     CDS             1..321
                     /gene="SETD4"
                     /gene_synonym="C21orf18; C21orf27"
                     /coded_by="XM_047440908.1:266..1231"
                     /db_xref="GeneID:54093"
                     /db_xref="HGNC:HGNC:1258"
ORIGIN      
        1 mqkgkgrtsr irrrklcgss esrgvneshk sefielrkwl karkfqdsnl apacfpgtgr
       61 glmsqtslqe gqmiislpes cllttdtvir sylgayitkw kpppspllal ctflvsekha
      121 ghrslwkpyl eilpkaytcp vclepevvnl lpkslkakae eqrahvqeff assrdffssl
      181 qplfaeavds ifsysallwa wctvntravy lrprqrecls aepdtcalap yldllnhsph
      241 vqvkaafnee thsyeirtts rwrkheevfi cygphdnqrl fleygfvsvh nphacvyvsr
      301 grpsltltgc nfsvevkttk f
//
LOCUS       XP_047297092             403 aa            linear   PRI 20-MAR-2023
DEFINITION  EMI domain-containing protein 1 isoform X11 [Homo sapiens].
ACCESSION   XP_047297092
VERSION     XP_047297092.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441136.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..403
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..403
                     /product="EMI domain-containing protein 1 isoform X11"
                     /calculated_mol_wt=41191
     Region          34..101
                     /region_name="EMI"
                     /note="EMI domain; pfam07546"
                     /db_xref="CDD:429530"
     Region          <164..>368
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     CDS             1..403
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /coded_by="XM_047441136.1:144..1355"
                     /db_xref="GeneID:129080"
                     /db_xref="HGNC:HGNC:18036"
                     /db_xref="MIM:608926"
ORIGIN      
        1 mggprawall clglllpggg aawsigaapf sgrrnwcsyv vtrtischvq ngtylqrvlq
       61 ncpwpmscpg ssyrtvvrpt ykvmykivta rewrccpghs gvsceevaas saslepmwsg
      121 stmrrmalrp tafsgclncs kvselterlk vleakmtmlt vieqpvpptp atpedpaplw
      181 gpppaqgspg dgglqdqvga wglpgptgpk gdagsrgpmg mrgppgpqgp pgspgragav
      241 gtpgergppg ppgppgppgp papvgpphar isqhgdplls ntftetnnhw pqgptgppgp
      301 pgpmgppgpp gptgvpgspg higppgptgp kgisghpgek gerglrgepg pqgsagqrge
      361 pgpkgdpgek shwgeglhql realkilaer vliletmigl ygs
//
LOCUS       XP_047297512            1806 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein KIAA1671 isoform X1 [Homo sapiens].
ACCESSION   XP_047297512
VERSION     XP_047297512.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441556.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1806
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..1806
                     /product="uncharacterized protein KIAA1671 isoform X1"
                     /calculated_mol_wt=196581
     Region          <36..271
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1628..1797
                     /region_name="Tankyrase_bdg_C"
                     /note="Tankyrase binding protein C terminal domain;
                     pfam15327"
                     /db_xref="CDD:434637"
     CDS             1..1806
                     /gene="KIAA1671"
                     /coded_by="XM_047441556.1:318..5738"
                     /db_xref="GeneID:85379"
                     /db_xref="HGNC:HGNC:29345"
ORIGIN      
        1 matrvevgsi tpltavpglg emgkeetltr tyflqageas gapparilea ksplrsparl
       61 lplprlapkp fskeqdvksp vpslrpsstg pspsgglsee paakdldnrm pglvgqevgs
      121 gegprtsspl fnkavflrps sstmilfett ksgpalgkav segaeeaklg vsgsrpevaa
      181 kpalptqkpa gtlprsapls qdtkppvpqe eagqdhppsk assvedtarp lveprprlkr
      241 rpvsaiftes iqpqkpgpga aatvgkvppt ppektwvrkp rplsmdltar fenkeallrk
      301 vadegsgpta gdmaglerpr aaskldrdcl vkaeaplhdp dldflevakk irerkekmls
      361 kpemgspral vggssgvtps ndqspweeka kldpepekaa espsprlgrg lelaevksrv
      421 adgeaaagge wasrrsvrkc islfredstl alavgsespl atpaspsaap epekgvvsvq
      481 erirgwtaes seakpevrrr tfqarplsad ltklfsssas snevkyeksa elsgefpkep
      541 rekqkeghsl dgaciprspw kpgtlrdksr qteqkvssnq dpdscrggss veapcpsdvt
      601 peddrsfqtv watvfehhve rhtvadqsgr clsttppgdm aharvseprp rpemgswlgr
      661 dppdmtklkk ensrgfdnpe teklgpttll ngelrpyhtp lrdkyplsen hnnntflkhl
      721 enpptsqrie prydivhavg ervhseaisp apeekavtlr slrswlslkd rqlsqevtpa
      781 dlecglegqa gsvqrasliw eargmpeasg pkfggncpfp kwtggavvss hkatvavsee
      841 hcapgatsvr aikaaiwesq hegpegarsk pgvgargppq gcpldplsra tngpsdsqar
      901 thpdafavqk gpfivaareg dpgpaqvpqp avrmrkagam dqrmdrwrrr tlppnvkfdt
      961 fsslvpedsp hvghrrtdyv sptasalrkp qlshyrvetq evnpgasrdq tspavkqgsp
     1021 vepkatffav tyqipntqka kgvvlsgaes llehsrkitp pssphsltst lvslgheeal
     1081 emagsknwmk grehenasil ktlkptdrps slgawsldpf ngriidvdal wshrgsedgp
     1141 rpqsnwkesa nkmspsggap qttptlrsrp kdlpvrrktd visdtfpgki rdgyrssvld
     1201 idalmaeyqe lslkvpgeaq errsptveps tlprerpvql ggveqrrrsl kempdtgglw
     1261 kpassaeinh sftpglgkql aetletamgt kssppfwalp psapserypg gspipadprk
     1321 ktgfaeddrk afaskhhvak cqnylaeskp sgredpgsgv rvspkspptd qkkgtprkst
     1381 grgeedsvaq wgdhprdcgr vpldikrays ekgppanire glsimheare rrreqpkgrp
     1441 sltgenleak mgpcwwesgt gdshkvlprd lekedapqek erplqqvspv asvpwrshsf
     1501 ckdrrsgpfv dqlkqcfsrq ptepkdtdtl vheagsqygt wteqcqsges latespdssa
     1561 tstrkqppss rlsslssqte ptsagdqydc srdqrstsvd hsstdlestd gmegppppda
     1621 cpekrvddfs fidqtsvlds salktrvqls krsrrrapis hslrrsrfse sesrsplede
     1681 tdntwmfkds teeksprkee sdeeetaska ertpvshpqr mpafpgmdpa vlkaqlhkrp
     1741 evdspgetps wapqpkspks pfqpgvlgsr vlpssmdkde rsdepspqwl kelkskkrqs
     1801 lyenqv
//
LOCUS       XP_047304674             392 aa            linear   PRI 20-MAR-2023
DEFINITION  5-azacytidine-induced protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_047304674
VERSION     XP_047304674.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448718.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..392
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..392
                     /product="5-azacytidine-induced protein 2 isoform X2"
                     /calculated_mol_wt=44804
     Region          <13..>242
                     /region_name="SCP-1"
                     /note="Synaptonemal complex protein 1 (SCP-1); pfam05483"
                     /db_xref="CDD:114219"
     Region          213..264
                     /region_name="TBD"
                     /note="TBD domain; pfam12845"
                     /db_xref="CDD:432828"
     CDS             1..392
                     /gene="AZI2"
                     /gene_synonym="AZ2; NAP1; TILP"
                     /coded_by="XM_047448718.1:585..1763"
                     /db_xref="GeneID:64343"
                     /db_xref="HGNC:HGNC:24002"
                     /db_xref="MIM:609916"
ORIGIN      
        1 mdalveddic ilnhekahkr dtvtpvsiys gdesvashfa lvtayedikk rlkdsekens
       61 llkkrirfle ekliarfeee tssvgreqvn kayhayrevc idrdnlkskl dkmnkdnses
      121 lkvlneqlqs kevellqlrt evetqqvmrn lnppssnwev eklscdlkih gleqelelmr
      181 kecsdlkiel qkakqtdpyq ednlksrdlq klsissdnmq haywelkrem snlhlvtqvq
      241 aellrklkts taikkacapv gcsedlgrds tklhlmnfta tytrhppllp ngkalchtts
      301 splpgdvkvl sekailqswt dnersipndg tcfqehssyg rnslednswv fpsppksset
      361 afgetktktl plpnlpplhy ldqhnqncly kn
//
LOCUS       XP_047304712            1110 aa            linear   PRI 20-MAR-2023
DEFINITION  fibronectin type III domain-containing protein 3B isoform X2 [Homo
            sapiens].
ACCESSION   XP_047304712
VERSION     XP_047304712.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448756.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1110
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1110
                     /product="fibronectin type III domain-containing protein
                     3B isoform X2"
                     /calculated_mol_wt=122522
     Region          186..280
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(269..270,272..273)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          285..376
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(285,349,364)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(365..366,368..369)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          384..473
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(384,446,461)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(462..463,465..466)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          478..572
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(478,545,560)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(561..562,564..565)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          577..668
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(577,641,656)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(657..658,660..661)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          673..762
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(673,735,750)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(751..752,754..755)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          792..853
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(849..850,852..853)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          876..955
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(944..945,947..948)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          960..1033
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     CDS             1..1110
                     /gene="FNDC3B"
                     /gene_synonym="FAD104; PRO4979; YVTM2421"
                     /coded_by="XM_047448756.1:160..3492"
                     /db_xref="GeneID:64778"
                     /db_xref="HGNC:HGNC:24670"
                     /db_xref="MIM:611909"
ORIGIN      
        1 myvtmmmtdq iplelpplln gevammphlv ngdaaqqvil vqvnpgetft iraedgtlqc
       61 iqgpaevpmm spngsippih vppgyisqvi edstgvrrvv vtpqspecyp psypsamspt
      121 hhlppylthh phfihnshta yyppvtgpgd mppqffpqhh lphtiygeqe yelevkrvqd
      181 ilsgiekpqv sniqaravvl swappvglsc gphsglsfpy syevalsdkg rdgkykiiys
      241 geelecnlkd lrpatdyhvr vyamynsvkg scsepvsftt hscapecpfp pklahrskss
      301 ltlqwkapid ngskitnyll ewdegkrnsg frqcffgsqk hckltklcpa mgytfrlaar
      361 ndigtsgysq evvcytlgni pqmpsaprlv ragitwvtlq wskpegcspe evitytleiq
      421 edendnlfhp kytgedltct vknlkrstqy kfrltasnte gkscpsevlv cttspdrpgp
      481 ptrplvkgpv tshgfsvkwd ppkdnggsei lkylleitdg nseanqweva ysgsateytf
      541 thlkpgtlyk lraccistgg hsqcseslpv rtlsiapgqc rpprvlgrpk hkevhlewdv
      601 pasesgcevs eysvemtepe dvasevyhgp electvgnll pgtvyrfrvr alndggygpy
      661 sdvseittaa gppgqckapc isctpdgcvl vgwespdssg adiseyrlew gedeesleli
      721 yhgtdtrfei rdllpaaqyc crlqafnqag agpyselvlc qtpasapdpv stlcvleeep
      781 ldaypdspsa clvlnweepc nngseilayt idlgdtsitv gnttmhvmkd llpettyrir
      841 iqaineigag pfsqfikakt rplpplpprl ecaaagpqsl klkwgdsnsk thaaedivyt
      901 lqledrnkrf isiyrgpsht ykvqrlteft cysfriqaas eagegpfset ytfsttksvp
      961 ptikaprvtq legnsceilw etvpsmkgdp vnyilqvlvg reseykqvyk geeatfqisg
     1021 lqtntdyrfr vcacrrcldt sqelsgafsp saafvlqrse vmltgdmgsl ddpkmksmmp
     1081 tdeqfaaiiv lgfatlsilf afilqyflmk
//
LOCUS       XP_047305750             992 aa            linear   PRI 20-MAR-2023
DEFINITION  evC complex member EVC isoform X1 [Homo sapiens].
ACCESSION   XP_047305750
VERSION     XP_047305750.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449794.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..992
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..992
                     /product="evC complex member EVC isoform X1"
                     /calculated_mol_wt=111860
     CDS             1..992
                     /gene="EVC"
                     /gene_synonym="DWF-1; EVC1; EVCL"
                     /coded_by="XM_047449794.1:181..3159"
                     /db_xref="GeneID:2121"
                     /db_xref="HGNC:HGNC:3497"
                     /db_xref="MIM:604831"
ORIGIN      
        1 marggaacks darlllgrda lrpapallap avllgaalgl glglwlgcra grqrtrhqkd
       61 dtqnllknle snaqtpsetg spsrrrkrev qmskdkeavd eceppsnsni tafalkakvi
      121 ypinqkfrpl adgssnpslh enlkqavlph qpveaspsss lgslsqgekd dcsssssvhs
      181 atsddrflsr tflrvnafpe vlacesvdvd lciyslhlkd llhldtalrq ekhmmfiqif
      241 kmclldllpk kksddelyqk ilskqekdle elekglqvkl sntemsgagd seyitladve
      301 kkereyseql idnmeafwkq maniqhflvd qfkcssskar qlmmtlterm iaaegllcds
      361 qelqaldale rtmgrahmak vieflklqvq eetrcrlaai shglellage gklsgrqkee
      421 lltqqhkafw qeaerfsref vqrgkdlvta slahqvegta kltlaqeeeq rsflaeaqpt
      481 adpekfleaf hevlerqrlm qcdleeeenv rateavvalc qelyfstvdt fqkfvdalfl
      541 qtlpgmtglp peecdylrqe vqenaawqlg ksnrfrrqqw klfqelleqd qqvwmeecal
      601 ssvlqthlre dhegtirgvl grlggltees trcvlqghdl llrsalrrla lrgnalatlt
      661 qmrlsgkkhl lqelreqral eqgssqclde hqwqllrale arvleeasrl eeeaqqtrlq
      721 lqqrllaeaq evgqllqqhm ecaigqallv harnaatksr akdrddfkrt lmeaavesvy
      781 vtsagvsrlv qayyqqigri medheerklq hlktlqgerm enyklrkkqe lsnpssgsrt
      841 aggahetsqa vhqrmlsqqk rflaqfpvhq qmrlhaqqqq agvmdlleaq letqlqeaeq
      901 nfiselaala rvplaeskll pakrgllekp lrtkrkkplp qergdlgvpn nedlasgdqt
      961 sgslsskrls qqeseagdsg nskkmlkrrs nl
//
LOCUS       XP_047271752             593 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein 47 isoform X1 [Homo sapiens].
ACCESSION   XP_047271752
VERSION     XP_047271752.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047415796.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..593
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..593
                     /product="RNA-binding protein 47 isoform X1"
                     /calculated_mol_wt=63968
     Region          21..593
                     /region_name="hnRNP-R-Q"
                     /note="heterogeneous nuclear ribonucleoprotein R, Q
                     family; TIGR01648"
                     /db_xref="CDD:273732"
     CDS             1..593
                     /gene="RBM47"
                     /gene_synonym="NET18"
                     /coded_by="XM_047415796.1:630..2411"
                     /db_xref="GeneID:54502"
                     /db_xref="HGNC:HGNC:30358"
                     /db_xref="MIM:619104"
ORIGIN      
        1 mtaedstaam ssdsaagssa kvpegvagap neaallalme rtgysmvqen gqrkyggppp
       61 gwegphpqrg cevfvgkipr dvyedelvpv feavgriyel rlmmdfdgkn rgyafvmych
      121 kheakravre lnnyeirpgr llgvccsvdn crlfiggipk mkkreeilee iakvtegvld
      181 vivyasaadk mknrgfafve yeshraaama rrklmpgriq lwghqiavdw aepeidvded
      241 vmetvkilyv rnlmietted tikksfgqfn pgcvervkki rdyafvhfts redavhamnn
      301 lngtelegsc levtlakpvd keqysryqka argggaaeaa qqpsyvyscd pytlayygyp
      361 ynaligpnrd yfvkagsirg rgrgaagnra pgprgsylgg ysagrgiysr yhegkgkqqe
      421 kgyelvpnle iptvnpvaik pgtvaipaig aqysmfpaap apkmiedgki htvehmispi
      481 avqpdpasaa aaaaaaaaaa aaviptvstp ppfqgrpitp vytvapnvqr iptagiygas
      541 yvpfaapata tiatlqknaa aaaamyggya gyipqafpaa aiqvpipdvy qty
//
LOCUS       XP_047272029             786 aa            linear   PRI 20-MAR-2023
DEFINITION  condensin complex subunit 3 isoform X3 [Homo sapiens].
ACCESSION   XP_047272029
VERSION     XP_047272029.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416073.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..786
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..786
                     /product="condensin complex subunit 3 isoform X3"
                     /calculated_mol_wt=87864
     Region          <32..596
                     /region_name="YCG1"
                     /note="Chromosome condensation complex Condensin, subunit
                     G [Chromatin structure and dynamics / Cell division and
                     chromosome partitioning]; COG5218"
                     /db_xref="CDD:227543"
     Region          330..624
                     /region_name="Cnd3"
                     /note="Nuclear condensing complex subunits, C-term domain;
                     pfam12719"
                     /db_xref="CDD:432739"
     CDS             1..786
                     /gene="NCAPG"
                     /gene_synonym="CAPG; CHCG; NY-MEL-3; YCG1"
                     /coded_by="XM_047416073.1:57..2417"
                     /db_xref="GeneID:64151"
                     /db_xref="HGNC:HGNC:24304"
                     /db_xref="MIM:606280"
ORIGIN      
        1 myctiskdfa kncrahqgce rgcqkaglsd avkqamqkhl lqgwlrfseg nilellhrld
       61 venssevavs vlnalfsitp lselvglckn ndgrklipve tltpeialyw calceylksk
      121 gdegeefleq ilpepvvyad yllsyiqsip vvneehrgdf syignlmtke figqqlilii
      181 ksldtseegg rkkllavlqe ililptipis lvsflverll hiiiddnkrt qivteiisei
      241 rapivtvgvn ndpadvrkke lkmaeikvkl ieakealenc itlqdfnras elkeeikale
      301 darinllket eqleikevhi ekndaetlqk clilcyellk qmsistglsa tmngiiesli
      361 lpgiisihpv vrnlavlclg ccglqnqdfa rkhfvlllqv lqiddvtiki salkaifdql
      421 mtfgiepfkt kkiktlhceg teinsddeqe skeveetata knvlkllsdf ldsevselrt
      481 gaaeglaklm fsgllvssri lsrlillwyn pvteedvqlr hclgvffpvf ayasrtnqec
      541 feeaflptlq tlanapassp laeiditnva ellvdltrps glnpqaktsq dyqaltvhdn
      601 lamkicneil tspcspeirv ytkalsslel sshlakdllv llneileqvk drtclralek
      661 ikiqlekgnk efgdqaeaaq datlttttfq nedeknkevy mtplrgvkat qaskstqlkt
      721 nrgqrkvtvs artnrrcqta eadsesdhev pepesemkmr lprraktaal eksklnlaqf
      781 lnedls
//
LOCUS       XP_011530636             696 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-1(XXV) chain isoform X1 [Homo sapiens].
ACCESSION   XP_011530636
VERSION     XP_011530636.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011532334.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..696
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..696
                     /product="collagen alpha-1(XXV) chain isoform X1"
                     /calculated_mol_wt=68569
     Region          216..272
                     /region_name="Collagen"
                     /note="Collagen triple helix repeat (20 copies);
                     pfam01391"
                     /db_xref="CDD:396114"
     Region          <258..>495
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <371..>646
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     CDS             1..696
                     /gene="COL25A1"
                     /gene_synonym="AMY; CFEOM5; CLAC; CLAC-P; CLACP"
                     /coded_by="XM_011532334.3:413..2503"
                     /db_xref="GeneID:84570"
                     /db_xref="HGNC:HGNC:18603"
                     /db_xref="MIM:610004"
ORIGIN      
        1 mllkkhagkg ggreprsedp tpaeqhcart mppcavlaal lsvvavvscl ylgvktndlq
       61 ariaalesak gapsihllpd tldhlktmvq ekverllaqk syehmakiri areapsecnc
      121 pagppgkrgk rgrrgesgpp gqpgpqgppg pkgdkgeqgd qgprmvfpki nhgflsadqq
      181 likrrlikgd qgqagppgpp gppgprgppg dtgkdgprgm pgvpgepgkp geqglmgplg
      241 ppgqkgsiga pgipgmngqk gepglpgavg qngipgpkge pgeqgekgda gengpkgdtg
      301 ekgdpgssaa gikgepgesg rpgqkgepgl pglpglpgik gepgfigpqg epglpglpgt
      361 kgergeagpp grgergepga pgpkgkqges gtrgpkgskg drgekgdsga qgprgppgqk
      421 gdqgateiid yngnlhealq rittltvtgp pgppgpqglq gpkgeqgspg ipgmdgeqgl
      481 kgskgdmgdp gmtgekggig lpglpgangm kgekgdsgmp gpqgpsiigp pgppgphgpp
      541 gpmgphglpg pkgepglngv kglkgepgqk gdrgplglpg asgldgkpgs rgtdgpmgph
      601 gpagpkgerg ekgamgepgp rgpyglpgkd gepgldgfpg prgekgdlge kgekgekgkk
      661 gkkgpkgekg eqgapgldap cplgpdglpm pgcwqk
//
LOCUS       XP_047272338             582 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-dependent kinase-like 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047272338
VERSION     XP_047272338.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416382.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..582
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..582
                     /product="cyclin-dependent kinase-like 2 isoform X1"
                     /calculated_mol_wt=65857
     Region          2..287
                     /region_name="STKc_CDKL2_3"
                     /note="Catalytic domain of the Serine/Threonine Kinases,
                     Cyclin-Dependent protein Kinase Like 2 and 3; cd07846"
                     /db_xref="CDD:270836"
     Site            order(10..14,18,31,33,50,64,80..83,86,88..89,126,128,
                     130..131,133,144,147,159,161..164,166,204)
                     /site_type="active"
                     /db_xref="CDD:270836"
     Site            order(10..14,18,31,33,64,80..83,86,126,128,130..131,133,
                     144)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270836"
     Site            order(50,88,126,128,147,159,161..164,166,204)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270836"
     Site            143..166
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270836"
     CDS             1..582
                     /gene="CDKL2"
                     /gene_synonym="KKIAMRE; P56"
                     /coded_by="XM_047416382.1:517..2265"
                     /db_xref="GeneID:8999"
                     /db_xref="HGNC:HGNC:1782"
                     /db_xref="MIM:603442"
ORIGIN      
        1 mekyenlglv gegsygmvmk crnkdtgriv aikkflesdd dkmvkkiamr eikllkqlrh
       61 enlvnllevc kkkkrwylvf efvdhtildd lelfpngldy qvvqkylfqi ingigfchsh
      121 niihrdikpe nilvsqsgvv klcdfgfart laapgevytd yvatrwyrap ellvgdvkyg
      181 kavdvwaigc lvtemfmgep lfpgdsdidq lyhimmclgn liprhqelfn knpvfagvrl
      241 peikereple rrypklsevv idlakkclhi dpdkrpfcae llhhdffqmd gfaerfsqel
      301 qlkvqkdarn vslskksqnr kkekekddsl veerktlvvq dtnadpkikd yklfkikgsk
      361 idgekaekgn rasnasclhd srtshnkivp stslkdcsnv svdhtrnpsv aipplthnls
      421 avapsinsgm gtetipiqgy rvdektkkcs ipfvkpnrhs psgiyninvt tlvsseknlf
      481 waskkrreys rtdvrlpeln ynhlpelral ggiarnsrlt kkeskilses ripslaaidl
      541 htpsitlhqg favssrlecs gnimahysld plglgnlpts as
//
LOCUS       XP_047273506            3215 aa            linear   PRI 20-MAR-2023
DEFINITION  ciliogenesis and planar polarity effector 1 isoform X8 [Homo
            sapiens].
ACCESSION   XP_047273506
VERSION     XP_047273506.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417550.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3215
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..3215
                     /product="ciliogenesis and planar polarity effector 1
                     isoform X8"
                     /calculated_mol_wt=363626
     Region          2878..3208
                     /region_name="Joubert"
                     /note="Joubert syndrome-associated; pfam15392"
                     /db_xref="CDD:434690"
     CDS             1..3215
                     /gene="CPLANE1"
                     /gene_synonym="C5orf42; Hug; JBTS17; OFD6"
                     /coded_by="XM_047417550.1:579..10226"
                     /db_xref="GeneID:65250"
                     /db_xref="HGNC:HGNC:25801"
                     /db_xref="MIM:614571"
ORIGIN      
        1 meirleilts tgikqkkpwp rvswlgkeke avfllddkfi neinllsgki kkkipslqpf
       61 lkdvivltts sndawlagvl ttgelflwnk dqdclktipi tekpkemika tvasslrlyl
      121 yvsgngkriv litpsgcifl weylelknil sskslslagr wsqvipeeav llpstedkea
      181 vvnavfikne lfgdcclcsf tfysgeclkl tflairwhen vftsvrslpy hvhwaqqdch
      241 lcslipkces vksrgalisa fsrdgltlav tlnqkdpkat qvlfintlnf vtlcgslkgc
      301 snkspvvpat lirsywvgdi swthdslfla cmlkrgslvl ltcqgelltl itfgcsiefg
      361 paefiplhpl ityrpqqftf qdsnnsvdss asdsdpmrqr fsikahsrlp ylvisdgymv
      421 ttlrfldsls psvhmrslll dstqrlekiy qsvilskpkg kglnlrslns lrssllehqg
      481 nessadftvp kflqaeetin enaadfqdfe aeetnegrhf pdnlcpfwnk rddvlcssmk
      541 egrlefasmf dtihakddse etdrtitelh siqksllaaw tigisktvte knlmlnyivv
      601 cithffyilq fikcpfpkld lvlskssrhn awilcifqlf hqclsihywd irykqdvghl
      661 ikltsntvkl lltqqqkgql fsekllacfy llkmvadnln gvyilqpevi sasadgskit
      721 aqdslvvpif qmfqdsgfqk nwswnsffki hpqvvnpvqq pghrllilwr ilykktlwyq
      781 aqlnrrvpea dsqltekmth eastvksllc hlqanlqstg dclnqtlelk singeecfll
      841 gsyeksvqlw kkalqeieek ggrrtyflqi ryylsllych lysynlndaq glcdqlarei
      901 lrwsqlpvke nkdfsgaaks hfecgmvggv hpeaavrvvq smarfmaayf tnqqlcilpp
      961 hhvnvlpplh ikteqsfrli plqhskvasv vrdqnlsnvw tveyalellf igglvpeavw
     1021 layklgdwkt svsigvafql fckrdsnfmr skkkslnlpl rmtpaqifqe klqcvlgqpa
     1081 sleaknemgs kykqftdpie eedanllfgs vqevlkasvm adadilsetf qllidsakdf
     1141 skrlwglvpf glylpapply cpqpailsee dgddlllkae knnrqkvsgi lqrvlllfra
     1201 aqcsfpvaqw yilqlrwark vmqkirmkgs lpslspfpqs llnyckggia ffrpgaagdh
     1261 kldevsirai gcfrelcalc wmlhvrdkls yscrqyqkar envkgekdle vefdscmieh
     1321 clsavewayr mlpfsrffnm eeliqdiils ligelppirk vaeifvkafp ypedvrvplr
     1381 dkyhslhqrl rhcvvkgpqt eemmsvvmhs iqkvrvkalk rvqrnigsfe vniwepieee
     1441 kpdeapgvdr yslgtslsrs tltelgdsvv hsdadtfsea lsveeksrin iyqrnapnhm
     1501 eltsihkptd krkmcnqken ptkkedhekl sqntlpvigv weferdddey ikfldlflsy
     1561 ilerdlpysr dadipfltsf sgklreheln sllfdvhttl krhqsktksq nvfragscfv
     1621 vapesyesek ssslndeygm hlenqklsss vlvnqgikpf lqypsnevnk negmsglfgl
     1681 kqrsiykiqd dtrekcliqr ssnhifwtpk siktrrcifk aiqcndinpq edlplalntf
     1741 gsigrllewm irwsnrrllc dsgitessse yspvirvkts taailtslwl leqpyfatyk
     1801 aknaiikmve nrdtgcqigp nieresksda ggsvavatpg gteerngqnk scqnilnrmp
     1861 teaknpdike inddiisith ntkkefidid enlleveaft eeemdmhisd yeedieesvg
     1921 gfrspslaic mmtlpqqlee efteevqcqr eepletimee ksteqkgmie afshpghttp
     1981 qsmqvdtsse issaqistyk eksssvplli sngvnvasqp paptpqktqr neftaqlpdc
     2041 sesvrqmlqd emfklvqlqq infmslmqiv gssfanlpdt qqlvqqsqsv hlgesqesnl
     2101 rgcgdvedsn knlkerffik pqsmgenare prknsphche gtipsgqnst gnvqnvphgs
     2161 iplcqlngqp rkkgpipssq nlpstsfypa pagnthlyll stpsvvqkap rliphaktfs
     2221 pgdgfpllqf kskqefqplf lhtgsipqvp frplpqprea wglsdsfqpa lpqraaqttp
     2281 ashlnvsqyn tearkkeveq ktwaetvite ipnhvnldqy vgqenltpqq dssvfikpek
     2341 lfdvkpgtle isphhsfglp llylplkppn mfpstsrasi tvpstpiqpi aeerkyprls
     2401 llhshlspen rckktqlipl enliafkqsq qklthnlfeq gdaghlqllk vkieppevrq
     2461 gkdskkrqrr raekelqekr ceklrrkpnv tfrpensiin nddseiikkp keqqehcgsh
     2521 plddfdvpfe mlqddntsag lhfmasvkkk aigsqdastn tdpeheplta pqllvpdvyl
     2581 nlklssemse kpwspsipht vtnlvghtyi nvidieandl lqelpvreep sndnvikqqs
     2641 dhlavpssae lhymaasvtn avpphnfksq glpkpefrfk gqstksdsae dyllwkrlqg
     2701 vsaacpapss aahqlehlsa klqkideqll aiqniaenie qdfpkpemld lhcdkigpvd
     2761 hiefssgpef kktlasktis iseevrflth mdeedqsdkk etsepefsit enysgqktcv
     2821 fptadsavsl ssssdqntts pgmnssdelc esvsvhplqm tgltdiadii ddliikdgvs
     2881 seelglteqa mgtsriqhys grhsqrtdke rreiqawmkr krkermakyl nelaekrgqe
     2941 hdpfcprsnp lymtsreirl rqkmkhekdr lllsehysrr isqayglmne llsesvqlpt
     3001 lpqkplpnkp sptqssscqh cpsprgenqh ghsflinrpg kvkymskpsy ihkrksfgqp
     3061 qgspwphgta tftiqkkagg akaavrkatq spvtfqkgsn apchslqhtk khgsaglapq
     3121 tkqvcveyer eetvvspwti pseihkilhe shnsllqdls pteeeepehp fgvggvdsvs
     3181 estgsilskl dwnaiedmva svedqglsvh waldl
//
LOCUS       XP_005248407            3208 aa            linear   PRI 20-MAR-2023
DEFINITION  ciliogenesis and planar polarity effector 1 isoform X12 [Homo
            sapiens].
ACCESSION   XP_005248407
VERSION     XP_005248407.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005248350.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3208
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..3208
                     /product="ciliogenesis and planar polarity effector 1
                     isoform X12"
                     /calculated_mol_wt=362555
     Region          2871..3201
                     /region_name="Joubert"
                     /note="Joubert syndrome-associated; pfam15392"
                     /db_xref="CDD:434690"
     CDS             1..3208
                     /gene="CPLANE1"
                     /gene_synonym="C5orf42; Hug; JBTS17; OFD6"
                     /coded_by="XM_005248350.5:180..9806"
                     /db_xref="GeneID:65250"
                     /db_xref="HGNC:HGNC:25801"
                     /db_xref="MIM:614571"
ORIGIN      
        1 meirleilts tgikqkkpwp rvswlgkeke avfllddkfi neinllsgki kkkipslqpf
       61 lkdvivltts sndawlagvl ttgelflwnk dqdclktipi tekpkemika tvasslrlyl
      121 yvsgngkriv litpsgcifl weylelknil sskslslagr wsqvipeeav llpstedkea
      181 vvnavfikne lfgdcclcsf tfysgeclkl tflairwhen vftsvrslpy hvhwaqqdch
      241 lcslipkces vksrgalisa fsrdgltlav tlnqkdpkat qvlfintlnf vtlcgslkgc
      301 snkspvvpat lirsywvgdi swthdslfla cmlkrgslvl ltcqgelltl itfgcsiefg
      361 paefiplhpl ityrpqqftf qdsnnsvdss asdsdpmrqr fsikahsrlp ylvisdgymv
      421 ttlrfldsls psvhmrslll dstqrlekiy qsvilskpkg kglnlrslns lrssllehqg
      481 nessadftvp kflqaeetin enaadfqdfe aeetnegrhf pdnlcpfwnk rddvlcssmk
      541 egrlefasmf dtihakddse etdrtitelh siqksllaaw tigisktvte knlmlnyivv
      601 cithffyilq fikcpfpkld lvlskssrhn awilcifqlf hqclsihywd irykqdvghl
      661 ikltsntvkl lltqqqkgql fsekllacfy llkmvadnln gvyilqpevi sasadgskit
      721 aqdslvvpif qmfqdsgfqk nwswnsffki hpqvvnpvqq pghrllilwr ilykktlwyq
      781 aqlnrrvpea dsqltekmth eastvksllc hlqanlqstg dclnqtlelk singeecfll
      841 gsyeksvqlw kkalqeieek ggrrtyflqi ryylsllych lysynlndaq glcdqlarei
      901 lrwsqlpvke nkdfsgaaks hfecgmvggv hpeaavrvvq smarfmaayf tnqqlcilpp
      961 hhvnvlpplh ikteavwlay klgdwktsvs igvafqlfck rdsnfmrskk kslnlplrmt
     1021 paqifqeklq cvlgqpasle aknemgskyk qftdpieeed anllfgsvqe vlkasvmada
     1081 dilsetfqll idsakdfskr lwglvpfgly lpapplycpq pailseedgd dlllkaeknn
     1141 rqkvsgilqr vlllfraaqc sfpvaqwyil qlrwarkvmq kirmkgslps lspfpqslln
     1201 yckggiaffr pgaagdhkld evsiraigcf relcalcwml hvrdklsysc rqyqkarenv
     1261 kgekdlevef dscmiehcls avewayrmlp fsrffnmeel iqdiilslig elppirkvae
     1321 ifvkafpype dvrvplrdky hslhqrlrhc vvkgpqteem msvvmhsiqk vrvkalkrvq
     1381 rnigsfevni wepieeekpd eapgvdrysl gtslsrstlt elgdsvvhsd adtfsealsv
     1441 eeksriniyq rnapnhmelt sihkptdkrk mcnqkenptk kedheklsqn tlpvigvwef
     1501 erdddeyikf ldlflsyile rdlpysrdad ipfltsfsgk lrehelnsll fdvhttlkrh
     1561 qsktksqnvf ragscfvvap esyeseksss lndeygmhle nqklsssvlv nqgikpflqy
     1621 psnevnkneg msglfglkqr siykiqddtr ekcliqrssn hifwtpksik trrcifkaiq
     1681 cndinpqedl plalntfgsi grllewmirw snrrllcdsg itessseysp virvktstaa
     1741 iltslwlleq pyfatykakn aiikmvenrd tgcqigpnie resksdaggs vavatpggte
     1801 erngqnkscq nilnrmptea knpdikeind diisithntk kefididenl leveafteee
     1861 mdmhisdyee dieesvggfr spslaicmmt lpqqleeeft eevqcqreep letimeekst
     1921 eqkgmieafs hpghttpqsm qvdtsseiss aqistykeks ssvpllisng vnvasqppap
     1981 tpqktqrnef taqlpdcses vrqmlqdemf klvqlqqinf mslmqivgss fanlpdtqql
     2041 vqqsqsvhlg esqesnlrgc gdvedsnknl kerffikpqs mgenareprk nsphchegti
     2101 psgqnstgnv qnvphgsipl cqlngqprkk gpipssqnlp stsfypapag nthlyllstp
     2161 svvqkaprli phaktfspgd gfpllqfksk qefqplflht gsipqvpfrp lpqpreawgl
     2221 sdsfqpalpq raaqttpash lnvsqyntea rkkeveqktw aetviteipn hvnldqyvgq
     2281 enltpqqdss vfikpeklfd vkpgtleisp hhsfglplly lplkppnmfp stsrasitvp
     2341 stpiqpiaee rkyprlsllh shlspenrck ktqliplenl iafkqsqqkl thnlfeqgda
     2401 ghlqllkvki eppevrqgkd skkrqrrrae kelqekrcek lrrkpnvtfr pensiinndd
     2461 seiikkpkeq qehcgshpld dfdvpfemlq ddntsaglhf masvkkkaig sqdastntdp
     2521 ehepltapql lvpdvylnlk lssemsekpw spsiphtvtn lvghtyinvi dieandllqe
     2581 lpvreepsnd nvikqqsdhl avpssaelhy maasvtnavp phnfksqevt pacldgkslr
     2641 agitevkeps vtsptpsdiq qnkglpkpef rfkgqstksd saedyllwkr lqgvsaacpa
     2701 pssaahqleh lsaklqkide qllaiqniae nieqdfpkpe mldlhcdkig pvdhiefssg
     2761 pefkktlask tisiseevrf lthmdeedqs dkketsepef sitenysgqk tcvfptadsa
     2821 vslssssdqn ttspgmnssd elcesvsvhp lqmtgltdia diiddliikd gvsseelglt
     2881 eqamgtsriq hysgrhsqrt dkerreiqaw mkrkrkerma kylnelaekr gqehdpfcpr
     2941 snplymtsre irlrqkmkhe kdrlllsehy srrisqaygl mnellsesvq lptlpqkplp
     3001 nkpsptqsss cqhcpsprge nqhghsflin rpgkvkymsk psyihkrksf gqpqgspwph
     3061 gtatftiqkk aggakaavrk atqspvtfqk gsnapchslq htkkhgsagl apqtkqvcve
     3121 yereetvvsp wtipseihki lheshnsllq dlspteeeep ehpfgvggvd svsestgsil
     3181 skldwnaied mvasvedqgl svhwaldl
//
LOCUS       XP_016866130             476 aa            linear   PRI 20-MAR-2023
DEFINITION  CD2-associated protein isoform X3 [Homo sapiens].
ACCESSION   XP_016866130
VERSION     XP_016866130.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017010641.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..476
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..476
                     /product="CD2-associated protein isoform X3"
                     /calculated_mol_wt=53080
     Region          3..58
                     /region_name="SH3_CD2AP_1"
                     /note="First Src Homology 3 domain (SH3A) of
                     CD2-associated protein; cd12053"
                     /db_xref="CDD:212986"
     Site            order(8,10,14,16..17,34..37,48,50,52..53)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212986"
     Region          111..165
                     /region_name="SH3_CD2AP_2"
                     /note="Second Src Homology 3 domain (SH3B) of
                     CD2-associated protein; cd12054"
                     /db_xref="CDD:212987"
     Site            order(117,119,122..126,141..145,147,154,156,158,160..161)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212987"
     Region          271..327
                     /region_name="SH3_CD2AP_3"
                     /note="Third Src Homology 3 domain (SH3C) of
                     CD2-associated protein; cd12056"
                     /db_xref="CDD:212989"
     Site            order(277..284,286..287,291..292,305..308,318..319,321,
                     323..324,326)
                     /site_type="other"
                     /note="putative ubiquitin interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:212989"
     Site            order(278,280,283,287,306..308,319,321,323..324)
                     /site_type="other"
                     /note="putative peptide ligand binding site [polypeptide
                     binding]"
                     /db_xref="CDD:212989"
     CDS             1..476
                     /gene="CD2AP"
                     /gene_synonym="CMS"
                     /coded_by="XM_017010641.2:457..1887"
                     /db_xref="GeneID:23607"
                     /db_xref="HGNC:HGNC:14258"
                     /db_xref="MIM:604241"
ORIGIN      
        1 mvdyiveydy davhddelti rvgeiirnvk klqeegwleg elngrrgmfp dnfvkeikre
       61 tefkddslpi krerhgnvas lvqristygl paggiqphpq tknikkktkk rqckvlfeyi
      121 pqnedelelk vgdiidinee veegwwsgtl nnklglfpsn fvkelevtdd getheaqdds
      181 etvlagptsp ipslgnvset asgsvtqpkk irgigfgdif kegsvklrtr tssseteekk
      241 pekplilqsl gpktqsveit ktdtegkika keycrtlfay egtnedeltf kegeiihlis
      301 ketgeagwwr gelngkegvf pdnfavqine ldkdfpkpkk ppppakapap kpeliaaekk
      361 yfslkpeekd ekstleqkps kpaapqvppk kptpptkasn llrssgtvyp krpekpvppp
      421 ppiakingev ssisskfete pvsklkldse qlplrpksvd fdsltvrtsk etdfvs
//
LOCUS       XP_047274590             225 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of G-protein signaling 17 isoform X1 [Homo sapiens].
ACCESSION   XP_047274590
VERSION     XP_047274590.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418634.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..225
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..225
                     /product="regulator of G-protein signaling 17 isoform X1"
                     /calculated_mol_wt=25824
     Region          56..212
                     /region_name="RGS"
                     /note="Regulator of G protein signaling (RGS) domain
                     superfamily; cl02565"
                     /db_xref="CDD:445834"
     CDS             1..225
                     /gene="RGS17"
                     /gene_synonym="hRGS17; RGS-17; RGSZ2"
                     /coded_by="XM_047418634.1:225..902"
                     /db_xref="GeneID:26575"
                     /db_xref="HGNC:HGNC:14088"
                     /db_xref="MIM:607191"
ORIGIN      
        1 mdgffssqlg pevaemrkrq qsqnegtpav sqapgnqrpn ntccfcwccc cscscltvrn
       61 eergenagrp thttkmesiq vleecqnpta eevlswsqnf dkmmkapagr nlfreflrte
      121 yseenllfwl acedlkkeqn kkvieekarm iyedyisils pkevsldsrv revinrnlld
      181 pnphmyedaq lqiytlmhrd sfprflnsqi yksfvestag ssses
//
LOCUS       XP_047274604             929 aa            linear   PRI 20-MAR-2023
DEFINITION  filamin-A-interacting protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_047274604
VERSION     XP_047274604.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418648.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..929
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..929
                     /product="filamin-A-interacting protein 1 isoform X4"
                     /calculated_mol_wt=105920
     Region          <3..498
                     /region_name="PRK03918"
                     /note="DNA double-strand break repair ATPase Rad50"
                     /db_xref="CDD:235175"
     Region          <551..908
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     CDS             1..929
                     /gene="FILIP1"
                     /gene_synonym="FILIP"
                     /coded_by="XM_047418648.1:264..3053"
                     /db_xref="GeneID:27145"
                     /db_xref="HGNC:HGNC:21015"
                     /db_xref="MIM:607307"
ORIGIN      
        1 mlvderqmhi eqlglqsqkv qdltqklree eeklkaitsk skedrqkllk levdfehkas
       61 rfsqeheemn aklanqeshn rqlrlklvgl tqrieeleet nknlqkaeee lqelrdkiak
      121 gecgnsslma evenlrkrvl emegkdeeit ktesqcrelr kklqeeehhs kelrlevekl
      181 qkrmselekl eeafskskse ctqlhlnlek eknltkdlln elevvksrvk elecsesrle
      241 kaelslkddl tklksftvml vderknmmek ikqeerkvdg lnknfkveqg kvmdvtekli
      301 eeskkllklk semeekvynl trerdeligk lkseeeksse lscsvdllkk rldgieever
      361 eitrgrsrkg seltcpednk ikeltleier lkkrlqqlev vegdlmkted eydqleqkfr
      421 teqdkanfls qqleeikhqi aknkaiekge vvsqeaelrh rfrleeaksr dlkaevqalk
      481 ekihelmnke dqlsqlqvdy svlqqrfmee enknknmgqe vlnltkelel skrysralrp
      541 svngrrmvdv pvtstgvqtd avsgeaaeee tpavfirksf qeenhimsnl rqvglkkpve
      601 rssvldrypp aaneltmrks wipwmrkren gpsitqekgp rtnsspghpg evvlspkqgq
      661 plhirvtpdh enstatleit sptseeffss ttviptlgnq kpritiipsp nvmpqkqksg
      721 dttlgperam spvtittfsr ektpesgrga fadrptspiq imtvstsaap aeiavspesq
      781 empmgrtilk vtpekqtvpt pvrkynsnan iittednkih ihlgsqfkrs pgtsgegvsp
      841 vitvrpvnvt aekevstgtv lrsprnhlss rpgaskvtst ititpvttss argtqsvsgq
      901 dgssqrptpt ripmskesii ihqlrmnsr
//
LOCUS       XP_047275188            1443 aa            linear   PRI 20-MAR-2023
DEFINITION  proto-oncogene tyrosine-protein kinase ROS isoform X14 [Homo
            sapiens].
ACCESSION   XP_047275188
VERSION     XP_047275188.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419232.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1443
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1443
                     /product="proto-oncogene tyrosine-protein kinase ROS
                     isoform X14"
                     /calculated_mol_wt=161967
     Region          111..194
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(188..189,191..192)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          211..290
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(280..281,283..284)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          567..663
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(567,636,651)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(652..653,655..656)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          956..1023
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Region          1036..1142
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(1036,1115,1130)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(1131..1132,1134..1135)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..1443
                     /gene="ROS1"
                     /gene_synonym="c-ros-1; MCF3; ROS"
                     /coded_by="XM_047419232.1:287..4618"
                     /db_xref="GeneID:6098"
                     /db_xref="HGNC:HGNC:10261"
                     /db_xref="MIM:165020"
ORIGIN      
        1 mkniyclipk lvnfatlgcl wisvvqctvl nsclkscvtn lgqqldlgtp hnlsepciqg
       61 chfwnsvdqk ncalkcndty atvceresce vgcssaegay eeevlenadl ptapfassig
      121 shnmtlrwks anfsgvkyii qwkyaqllgs wtytktvsrp syvvkplhpf teyifrvvwi
      181 ftaqlqlysp pspsyrthph gvpetaplir niessspdtv evswdppqfp ggpilgynlr
      241 lisknqklda gtqrtsfqfy stlpntiyrf siaavnevge gpeaessitt sssavqqeeq
      301 wlflsrktsl rkrslkhlvd eahclrldai yhnitgisvd vhqqivyfse gtliwakkaa
      361 nmsdvsdlri fyrgsgliss isidwlyqrm yfimdelvcv cdlencsnie eitppsisap
      421 qkivadsyng yvfyllrdgi yradlpvpsg rcaeavrive sctlkdfaik pqakriiyfn
      481 dtaqvfmstf ldgsashlil pripfadvks facenndflv tdgkvifqqd alsfnefivg
      541 cdlshieefg fgnlvifgss sqlhplpgrp qelsvlfgsh qalvqwkppa laigaspsaw
      601 qnwtyevkvs tqdppevthi flnisgtmln vpelqsamky kvsvrasspk rpgpwsepsv
      661 gttlvpasep pfimavkedg lwskplnsfg pgeflssdig nvsdmdwynn slyysdtkgd
      721 vfvwllngtd isenyhlpsi agagalafew lghflywagk tyviqrqsvl tghtdivthv
      781 kllvndmvvd svggylywtt lysvestrln gesslvlqtq pwfsgkkvia ltldlsdgll
      841 ywlvqdsqci hlytavlrgq stgdttitef aawstseisq nalmyysgrl fwingfriit
      901 tqeigqktsv svleparfnq ftiiqtslkp lpgnfsftpk vipdsvqess friegnassf
      961 qilwngppav dwgvvfysve fsahskflas eqhslpvftv eglepyalfn lsvtpytywg
     1021 kgpktslslr apetvpsape nprifilpsg kccnknevvv efrwnkpkhe ngvltkfeif
     1081 ynisnqsitn ktcedwiavn vtpsvmsfql egmsprcfia fqvraftskg pgpyadvvks
     1141 ttseinpfph litllgnkiv fldmdqnqvv wtfsaervis avcytadnem gyyaegdslf
     1201 llhlhnrsss elfqdslvfd itvitidwis rhlyfalkes qngmqvfdvd lehkvkypre
     1261 vkihnrnsti isfsvyplls rlywtevsnf gyqmfyysii shtlhrilqp tatnqqnkrn
     1321 qcscnvtefe lsgamaidts nlekpliyfa kaqeiwamdl egcqcwrvit vpamlagktl
     1381 vsltvdgdli ywiitakdst qiyqakkgng aivsqvkalr srhilayssv mqpfperrek
     1441 ekf
//
LOCUS       XP_047275659             744 aa            linear   PRI 20-MAR-2023
DEFINITION  ras GTPase-activating protein 4 isoform X3 [Homo sapiens].
ACCESSION   XP_047275659
VERSION     XP_047275659.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419703.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..744
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..744
                     /product="ras GTPase-activating protein 4 isoform X3"
                     /calculated_mol_wt=83890
     Region          6..126
                     /region_name="C2A_Rasal1_RasA4"
                     /note="C2 domain first repeat present in RasA1 and RasA4;
                     cd04054"
                     /db_xref="CDD:176018"
     Site            order(21,27,74,76,82)
                     /site_type="other"
                     /note="Ca2+ binding pocket [ion binding]"
                     /db_xref="CDD:176018"
     Region          134..257
                     /region_name="C2B_RasA1_RasA4"
                     /note="C2 domain second repeat present in RasA1 and RasA4;
                     cd04025"
                     /db_xref="CDD:175991"
     Site            order(149,155,202,204,210)
                     /site_type="other"
                     /note="Ca2+ binding pocket [ion binding]"
                     /db_xref="CDD:175991"
     Region          265..550
                     /region_name="RasGAP_RASA4"
                     /note="Ras-GTPase Activating Domain of RASA4; cd05395"
                     /db_xref="CDD:213343"
     Site            order(303,339,341,343..344,346,349,353,464,472..473,
                     476..477,480,501,504..505,508,512,514,521..522)
                     /site_type="other"
                     /note="putative RAS interface [polypeptide binding]"
                     /db_xref="CDD:213343"
     Region          542..681
                     /region_name="PH_CAPRI"
                     /note="Ca2+ promoted Ras inactivator pleckstrin homology
                     (PH) domain; cd13372"
                     /db_xref="CDD:241523"
     Region          681..>701
                     /region_name="BTK"
                     /note="BTK motif; pfam00779"
                     /db_xref="CDD:425866"
     CDS             1..744
                     /gene="RASA4"
                     /gene_synonym="CAPRI; GAPL"
                     /coded_by="XM_047419703.1:70..2304"
                     /db_xref="GeneID:10156"
                     /db_xref="HGNC:HGNC:23181"
                     /db_xref="MIM:607943"
ORIGIN      
        1 makrsslyir ivegknlpak ditgssdpyc ivkvdnepii rtatvwktlc pfwgeeyqvh
       61 lpptfhavaf yvmdedalsr ddvigkvclt rdtiashpkg fsgwahltev dpdeevqgei
      121 hlrlevwpga racrlrcsvl eardlapkdr ngtsdpfvrv rykgrtrets ivkkscyprw
      181 netfefelqe gamealcvea wdwdlvsrnd flgkvvidvq rlrvvqqeeg wfrlqpdqsk
      241 srrhdegnlg slqlevrlrd etvlpssyyq plvhllchev klgmqgpgql iplieettst
      301 ecrqdvatnl lklflgqgla kdfldllfql elsrtsetnt lfrsnslask smesflkvag
      361 mqylhgvlgp iinkvfeekk yveldpskve vkdvgcsglh rpqteaevle qsaqtlrahl
      421 gallsalsrs vracpavvra tfrqlfrrvr erfpgaqhen vpfiavtsfl clrffspaim
      481 spklfhlrer hadartsrtl lllakavqnv gnmdtpasra keawmeplqp tvrqgvaqlk
      541 dfitklvdie ekdeldlqrt lslqappvke gplfihrtkg kgplmsssfk klyfslttea
      601 lsfaktpssk ksaliklani raaekveeks fggshvmqvi ytddagrpqt aylqckcvne
      661 lnqwlsalrk vsinntgllg syhpgvfrgd kwscchqkek tgwsavvqsr ltaisvsqaq
      721 villpqppky yrrkplhpak sglr
//
LOCUS       XP_011514290             509 aa            linear   PRI 20-MAR-2023
DEFINITION  adenosylhomocysteinase 3 isoform X2 [Homo sapiens].
ACCESSION   XP_011514290
VERSION     XP_011514290.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011515988.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..509
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..509
                     /product="adenosylhomocysteinase 3 isoform X2"
                     /calculated_mol_wt=56941
     Region          85..508
                     /region_name="AdoHcyase"
                     /note="S-adenosyl-L-homocysteine hydrolase; smart00996"
                     /db_xref="CDD:214963"
     Site            order(94,97,101,104..105,239,242..243,259,261,265..266,
                     270,273..274,278,281..282,285..291,299..300,303,312..313,
                     315,320..328,330..333,335..338,341,354..358,368..370,381,
                     398..399,404,428,430,432..433,436,462,468..469,472..473,
                     476,479..480,482..484,486,489..490,493..494)
                     /site_type="other"
                     /note="homotetramer interface [polypeptide binding]"
                     /db_xref="CDD:240619"
     Site            order(132,134,136..137,208,233..234,263,267,424,429,434,
                     438)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:240619"
     Site            order(234..236,268,272,297,299..301,319..322,325,352..355,
                     358,376..378,421,423,429)
                     /site_type="other"
                     /note="NAD binding site [chemical binding]"
                     /db_xref="CDD:240619"
     CDS             1..509
                     /gene="AHCYL2"
                     /gene_synonym="ADOHCYASE3; IRBIT2"
                     /coded_by="XM_011515988.3:54..1583"
                     /db_xref="GeneID:23382"
                     /db_xref="HGNC:HGNC:22204"
                     /db_xref="MIM:616520"
ORIGIN      
        1 mekwdgnegt safhmpewmq iqfadqkqef nkrptkigrr slsrsisqss tdsyssaasy
       61 tdssddetsp rdkqqknskg ssdfcvknik qaefgrreie iaeqempalm alrkraqgek
      121 plagakivgc thitaqtavl metlgalgaq crwaacniys tlnevaaala esgfpvfawk
      181 geseddfwwc idrcvnvegw qpnmilddgg dlthwiykky pnmfkkikgi veesvtgvhr
      241 lyqlskagkl cvpamnvnds vtkqkfdnly ccresildgl krttdmmfgg kqvvvcgyge
      301 vgkgccaalk amgsivyvte idpicalqac mdgfrlvkln evirqvdivi tctgnknvvt
      361 rehldrmkns civcnmghsn teidvaslrt peltwervrs qvdhviwpdg krivllaegr
      421 llnlscstvp tfvlsitatt qalalielyn apegrykqdv yllpkkmdey vaslhlptfd
      481 ahlteltdeq akylglnkng pfkpnyyry
//
LOCUS       XP_016867476             607 aa            linear   PRI 20-MAR-2023
DEFINITION  staphylococcal nuclease domain-containing protein 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_016867476
VERSION     XP_016867476.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017011987.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..607
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..607
                     /product="staphylococcal nuclease domain-containing
                     protein 1 isoform X1"
                     /calculated_mol_wt=67590
     Region          21..166
                     /region_name="SNc"
                     /note="Staphylococcal nuclease homologues; smart00318"
                     /db_xref="CDD:214615"
     Region          193..328
                     /region_name="SNc"
                     /note="Staphylococcal nuclease homologues; smart00318"
                     /db_xref="CDD:214615"
     Region          341..495
                     /region_name="SNc"
                     /note="Staphylococcal nuclease homologues; smart00318"
                     /db_xref="CDD:214615"
     Region          525..>593
                     /region_name="SNc"
                     /note="Staphylococcal nuclease homologues; smart00318"
                     /db_xref="CDD:214615"
     CDS             1..607
                     /gene="SND1"
                     /gene_synonym="p100; TDRD11; Tudor-SN"
                     /coded_by="XM_017011987.3:181..2004"
                     /db_xref="GeneID:27044"
                     /db_xref="HGNC:HGNC:30646"
                     /db_xref="MIM:602181"
ORIGIN      
        1 massaqsggs sggpavptvq rgiikmvlsg caiivrgqpr ggppperqin lsniragnla
       61 rraaatqpda kdtpdepwaf pareflrkkl igkevcftie nktpqgreyg miylgkdtng
      121 eniaeslvae glatrregmr annpeqnrls eceeqakaak kgmwsegngs htirdlkyti
      181 enprhfvdsh hqkpvnaiie hvrdgsvvra lllpdyylvt vmlsgikcpt frreadgset
      241 pepfaaeakf ftesrllqrd vqiileschn qnilgtilhp ngnitelllk egfarcvdws
      301 iavytrgaek lraaerfake rrlriwrdyv aptanldqkd kqfvakvmqv lnadaivvkl
      361 nsgdyktihl ssirpprleg entqdknkkl rplydipymf eareflrkkl igkkvnvtvd
      421 yirpaspate tvpafsertc atvtiggini aealvskgla tviryrqddd qrsshydell
      481 aaearaikng kglhskkevp ihrvadisgd tqkakqflpf lqragrseav veyvfsgsrl
      541 klylpketcl itfllagiec prgarnlpgl vqegepfsee atlftkelvl qreclpdnsl
      601 iihlkyk
//
LOCUS       XP_047276932            2979 aa            linear   PRI 20-MAR-2023
DEFINITION  trinucleotide repeat-containing gene 18 protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_047276932
VERSION     XP_047276932.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420976.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2979
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..2979
                     /product="trinucleotide repeat-containing gene 18 protein
                     isoform X1"
                     /calculated_mol_wt=315609
     Region          2231..2297
                     /region_name="Tudor_TNRC18"
                     /note="Tudor domain found in trinucleotide
                     repeat-containing gene 18 protein (TNRC18) and similar
                     proteins; cd20469"
                     /db_xref="CDD:410540"
     Site            order(2245,2251,2253,2275,2277,2279)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410540"
     Region          <2302..2542
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          2827..2971
                     /region_name="BAH_BAHCC1"
                     /note="BAH, or Bromo Adjacent Homology domain, as present
                     in mammalian BAHCC1 and similar proteins. BAHCC1 stands
                     for BAH domain and coiled-coil containing 1. BAH domains
                     are found in a variety of proteins playing roles in
                     transcriptional silencing and the...; cd04714"
                     /db_xref="CDD:240065"
     CDS             1..2979
                     /gene="TNRC18"
                     /gene_synonym="CAGL79; TNRC18A"
                     /coded_by="XM_047420976.1:345..9284"
                     /db_xref="GeneID:84629"
                     /db_xref="HGNC:HGNC:11962"
ORIGIN      
        1 mdgrdfgpqr svhgppppll sglamdshrv gaatagrlpa sglpgplppg kymaglnlhp
       61 hpgeaflgsf vasgmgpsas shgspvplps dlsfrsptps nlpmvqlwaa hahegfshlp
      121 sglypsylhl nhleppssgs pllsqlgqps ifdtqkgqgp ggdgfylpta gapgslhsha
      181 psartpgggh ssgapakgss srdgpakera grggeppplf gkkdprarge easgprgvvd
      241 ltqearaegr qdrgpprlae rlspflaesk tknaalqpsv ltmcnggagd vglpalvaea
      301 grggakeaar qdegarllrr tetllpgprp cpsplppppa ppkgppappa atpagvytvf
      361 reqgrehrvv aptfvpsvea fderpgpiqi asqardarar ereagrpgvl qappgsprpl
      421 drpeglrekn svirslkrpp padaptvrat raspdprayv pakellkpea dprpcerapr
      481 gpagpaaqqa aklfglepgr ppptgpehkw kpfelgnfaa tqmavlaaqh hhsraeeeaa
      541 vvaassskka yldpgavlpr saatcgrpva dmhsaahgsg easamqslik ysgsfardav
      601 avrpggcgkk spfgglgtmk pepaptsaga sraqarlphs ggpaagggrq lkrdperpes
      661 akafgregsg aqgeaevrhp pvgiavavar qkdsggsgrl gpglvdqers lslsnvkghg
      721 radedcvddr arhreerllg arldrdqekl lreskeladl arlhptscap nglnpnlmvt
      781 ggpalagsgr wsadpaahla thpwlprsgn asmwlaghpy glgppslhqg mapafppglg
      841 gslpsayqfv rdpqsgqlvv ipsdhlphfa elmeratvpp lwpalyppgr splhhaqqlq
      901 lfsqqhflrq qeflylqqqa aqalelqrsa qlvqerlkaq ehraemeekg skrgleaagk
      961 aglatagpgl lprkppglaa gpagtygkav spppsprasp vaalkakviq kledvskppa
     1021 yaypatpssh ptspppaspp ptpgitrkee apenvvekkd lelekeapsp fqalfsdipp
     1081 rypfqalpph ygrpypfllq ptaaadadgl apdvplpadg perlalsped kpirlspski
     1141 teplregpee eplaerevka evedmdegpt elpplesplp lpaaeamatp spaggcgggl
     1201 leaqalsatg qscaepsecp dfvegpeprv dspgrtepct aaldlgvqlt petlveakee
     1261 pvevpvavpv veavpeegla qvapsesqpt lemsdcdvpa gegqcpslep qeavpvlgst
     1321 cfleeassdq flpsledpla gmnalaaaae lpqarplpsp gaagaqalek leaaeslvle
     1381 qsflhgitll seiaeleler rsqemggaer alvarpsles llaagshmlr evldgpvvdp
     1441 lknlrlprel kpnkkyswmr kkeermyamk ssledmdale ldfrmrlaev qrqykekqre
     1501 lvklqrrrds edrreephrs larrgpgrpr krthapsals pprkrgksgh ssgklssksl
     1561 ltsddyelga girkrhkgse eehdaligmg kargrnqtwd eheassdfis qlkikkkkma
     1621 sdqeqlaskl dkalsltkqd klkspfkfsd saggksktsg gcgryltpyd sllgknrkal
     1681 akglglslks sregkhkraa ktrkmevgfk argqpksahs pfasevssys yntdseedee
     1741 flkdewpaqg pssskltpsl lcsmvaknsk aaggpkltkr glaaprtlkp kpatsrkqpf
     1801 clllreaear ssfsdssees fdqdesseee deeeeleeed easgggyrlg areralspgl
     1861 eesglgllar faasalpspt vgpslsvvql eakqkarkke erqsllgtef eytdsesevk
     1921 vrkrspagll rpkkglgepg pslaaptpga rgpdpsspdk aklavekgrk arklrgpkep
     1981 gfeagpeasd ddlwtrrrse riflhdasaa apapvstapa tktsrcakgg plsprkdagr
     2041 akdrkdprkv patvskgrhw kkkgkeagpg aglppprapa lpsearapha ssltaakrsk
     2101 akakgkevkk enrgkggavs klmesmaaee dfepnqdssf sedehlprgg averpltpap
     2161 rsciidkdel kdglrvlipm ddkllyaghv qtvhspdiyr vvvegergnr phiycleqll
     2221 qeaiidvrpa strflpqgtr iaaywsqqyr clypgtvvrg lldleddgdl itvefddgdt
     2281 griplshirl lppdykiqca epspallvps akrrsrktsk dtgegkdggt agseepgaka
     2341 rgrgrkpsak akgdraatle egnptdevps tplalepsst pgskksppep vdkrakapka
     2401 rpappqpspa ppaftscpap epfaelpapa tslapaplit mpatrpkpkk araaeesgak
     2461 gprrpgeeae llvkldhegv tspkskkake alllredpga ggwqepksll slgsyppaag
     2521 ssepkapwpk atdgdlaqep gpgltfedsg npkspdkaqa eqdgaeeses ssssssgsss
     2581 ssssssssgs etegeeegdk ngdggcgtgg rncsaassra aspassssss ssssssssss
     2641 ssssssssss ssssssssss ssssssssss ssssssssss ssttdedssc ssddeaapap
     2701 tagpsaqaal ptkatkqagk arpsahspgk ktpapqpqap ppqptqplqp kaqagaksrp
     2761 kkregvhlpt tkelakrqrl psvenrpkia aflparqlwk wfgkptqrrg mkgkarklfy
     2821 kaivrgkemi rigdcavfls agrpnlpyig riqsmweswg nnmvvrvkwf yhpeetspgk
     2881 qfhqgqhwdq kssrslpaal rvssqrkdfm eralyqsshv dendvqtvsh kclvvgleqy
     2941 eqmlktkkyq dseglyylag tyepttgmif stdgvpvlc
//
LOCUS       XP_016868427             290 aa            linear   PRI 20-MAR-2023
DEFINITION  arylamine N-acetyltransferase 2 isoform X1 [Homo sapiens].
ACCESSION   XP_016868427
VERSION     XP_016868427.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017012938.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..290
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..290
                     /product="arylamine N-acetyltransferase 2 isoform X1"
                     /calculated_mol_wt=33439
     Region          20..280
                     /region_name="Acetyltransf_2"
                     /note="N-acetyltransferase; pfam00797"
                     /db_xref="CDD:395644"
     CDS             1..290
                     /gene="NAT2"
                     /gene_synonym="AAC2; NAT-2; PNAT"
                     /coded_by="XM_017012938.2:307..1179"
                     /db_xref="GeneID:10"
                     /db_xref="HGNC:HGNC:7646"
                     /db_xref="MIM:612182"
ORIGIN      
        1 mdieayferi gyknsrnkld letltdileh qiravpfenl nmhcgqamel gleaifdhiv
       61 rrnrggwclq vnqllywalt tigfqttmlg gyfyippvnk ystgmvhlll qvtidgrnyi
      121 vdagsgsssq mwqplelisg kdqpqvpcif clteergiwy ldqirreqyi tnkeflnshl
      181 lpkkkhqkiy lftleprtie dfesmntylq tsptssfitt sfcslqtpeg vyclvgfilt
      241 yrkfnykdnt dlvefktlte eeveevlrni fkislgrnlv pkpgdgslti
//
LOCUS       XP_047277495            1009 aa            linear   PRI 20-MAR-2023
DEFINITION  protein-tyrosine kinase 2-beta isoform X1 [Homo sapiens].
ACCESSION   XP_047277495
VERSION     XP_047277495.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421539.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1009
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1009
                     /product="protein-tyrosine kinase 2-beta isoform X1"
                     /calculated_mol_wt=115744
     Region          39..137
                     /region_name="FERM_N_2"
                     /note="FERM N-terminal domain; pfam18038"
                     /db_xref="CDD:436229"
     Region          41..254
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          261..368
                     /region_name="FERM_C_FAK1"
                     /note="FERM domain C-lobe of Focal Adhesion Kinase 1 and
                     2; cd13190"
                     /db_xref="CDD:270011"
     Site            order(269,288,290,297)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270011"
     Site            order(302,307..310,345,349,352..353)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Site            345..356
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Region          418..687
                     /region_name="PTKc_FAK"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Focal Adhesion Kinase; cd05056"
                     /db_xref="CDD:133187"
     Site            order(431..435,439,455,457,474,487,502..505,508..509,549,
                     553..554,556,567,584..588,597,631)
                     /site_type="active"
                     /db_xref="CDD:133187"
     Site            order(431..435,439,455,457,474,487,502..505,508..509,
                     553..554,556,567)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133187"
     Site            order(549,553,584..588,597,631)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133187"
     Site            566..590
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133187"
     Site            order(597..601,635,639,664)
                     /site_type="other"
                     /note="FERM domain interface [polypeptide binding]"
                     /db_xref="CDD:133187"
     Region          872..1001
                     /region_name="Focal_AT"
                     /note="Focal adhesion targeting region; pfam03623"
                     /db_xref="CDD:427406"
     CDS             1..1009
                     /gene="PTK2B"
                     /gene_synonym="CADTK; CAKB; FADK2; FAK2; PKB; PTK; PYK2;
                     RAFTK"
                     /coded_by="XM_047421539.1:721..3750"
                     /db_xref="GeneID:2185"
                     /db_xref="HGNC:HGNC:9612"
                     /db_xref="MIM:601212"
ORIGIN      
        1 msgvseplsr vklgtlrrpe gpaepmvvvp vdvekedvri lkvcfysnsf npgknfklvk
       61 ctvqteirei itsillsgri gpnirlaecy glrlkhmksd eihwlhpqmt vgevqdkyec
      121 lhveaewryd lqirylpedf meslkedrtt llyfyqqlrn dymqryaskv segmalqlgc
      181 lelrrffkdm phnaldkksn fellekevgl dlffpkqmqe nlkpkqfrkm iqqtfqqyas
      241 lreeecvmkf fntlagfani dqetyrceli qgwnitvdlv igpkgirqlt sqdakptcla
      301 efkqirsirc lpleegqavl qlgiegapqa lsiktsslae aenmadlidg ycrlqgehqg
      361 sliihprkdg ekrnslpqip mlnlearrsh lsescsiesd iyaeipdetl rrpggpqygi
      421 aredvvlnri lgegffgevy egvytnhkge kinvavktck kdctldnkek fmseavimkn
      481 ldhphivkli giieeeptwi imelypygel ghylernkns lkvltlvlys lqickamayl
      541 esincvhrdi avrnilvasp ecvklgdfgl sryiededyy kasvtrlpik wmspesinfr
      601 rfttasdvwm favcmweils fgkqpffwle nkdvigvlek gdrlpkpdlc ppvlytlmtr
      661 cwdydpsdrp rftelvcsls dvyqmekdia meqernaryr tpkileptaf qepppkpsrp
      721 kyrpppqtnl lapklqfqvp eglcassptl tspmeypspv nslhtpplhr hnvfkrhsmr
      781 eedfiqpssr eeaqqlweae kvkmrqildk qqkqmvedyq wlrqeeksld pmvymndksp
      841 ltpekevgyl eftgppqkpp rlgaqsiqpt anldrtddlv ylnvmelvra vlelknelcq
      901 lppegyvvvv knvgltlrkl igsvddllps lpsssrteie gtqkllnkdl aelinkmrla
      961 qqnavtslse eckrqmltas htlavdaknl ldavdqakvl anlahppae
//
LOCUS       XP_047278176             443 aa            linear   PRI 20-MAR-2023
DEFINITION  homeobox-containing protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047278176
VERSION     XP_047278176.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422220.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..443
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..443
                     /product="homeobox-containing protein 1 isoform X2"
                     /calculated_mol_wt=49736
     Region          25..227
                     /region_name="HNF-1_N"
                     /note="Hepatocyte nuclear factor 1 (HNF-1), N-terminus;
                     pfam04814"
                     /db_xref="CDD:428137"
     Region          268..340
                     /region_name="homeodomain"
                     /note="Homeodomain; DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; cd00086"
                     /db_xref="CDD:238039"
     Site            order(268..272,274,291,297,325,327..328,331..332,334..336,
                     338..339)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Site            order(270,273,328,331..332,335)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     CDS             1..443
                     /gene="HMBOX1"
                     /gene_synonym="HNF1LA; HOT1; PBHNF; TAH1"
                     /coded_by="XM_047422220.1:401..1732"
                     /db_xref="GeneID:79618"
                     /db_xref="HGNC:HGNC:26137"
                     /db_xref="MIM:618610"
ORIGIN      
        1 mlssfpvvll etmshytdep rftieqidll qrlrrtgmtk heilhaletl drldqehsdk
       61 fgrrssyggs sygnstnnvp assstatast qtqhsgmsps psnsydtspq pcttnqngre
      121 nnerlstsng kmsptryhan smgqrsysfe aseedldvdd kveelmrrds svikeeikaf
      181 lanrrisqav vaqvtgisqs rishwllqqg sdlseqkkra fyrwyqlekt npgatlsmrp
      241 apipiedpew rqtpppvsat sgtfrlrrgs rftwrkecla vmesyfnenq ypdeakreei
      301 anacnaviqk pgkklsdler vtslkvynwf anrrkeikrr aniaailesh gidvqspggh
      361 snsddvdgnd yseqdtwqvr ngeeeegrss eggreaekdd stshsdhqdp islavemaav
      421 nhtilalarq ganeikteal ddd
//
LOCUS       XP_047278219             305 aa            linear   PRI 20-MAR-2023
DEFINITION  tumor suppressor candidate 3 isoform X1 [Homo sapiens].
ACCESSION   XP_047278219
VERSION     XP_047278219.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422263.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..305
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..305
                     /product="tumor suppressor candidate 3 isoform X1"
                     /calculated_mol_wt=34852
     Region          1..286
                     /region_name="OST3_OST6"
                     /note="OST3 / OST6 family, transporter family; pfam04756"
                     /db_xref="CDD:428108"
     CDS             1..305
                     /gene="TUSC3"
                     /gene_synonym="D8S1992; M33; MagT2; MRT22; MRT7; N33;
                     OST3A; SLC58A2"
                     /coded_by="XM_047422263.1:53..970"
                     /db_xref="GeneID:7991"
                     /db_xref="HGNC:HGNC:30242"
                     /db_xref="MIM:601385"
ORIGIN      
        1 mewssrrsif rmngdkfrkf ikapprnysm ivmftalqpq rqcsvcrqan eeyqilansw
       61 ryssafcnkl ffsmvdydeg tdvfqqlnmn saptfmhfpp kgrpkradtf dlqrigfaae
      121 qlakwiadrt dvhirvfrpp nysgtialal lvslvgglly lrrnnlefiy nktgwamvsl
      181 civfamtsgq mwnhirgppy ahknphngqv syihgssqaq fvaeshiilv lnaaitmgmv
      241 llneaatskg dvgkrriicl vglglvvfff sfllsifrsk yhgypyrhav vltvkssvwr
      301 kyihp
//
LOCUS       XP_047278646            2213 aa            linear   PRI 20-MAR-2023
DEFINITION  centriolin isoform X22 [Homo sapiens].
ACCESSION   XP_047278646
VERSION     XP_047278646.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422690.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2213
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..2213
                     /product="centriolin isoform X22"
                     /calculated_mol_wt=255312
     Region          89..261
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          100..119
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          127..148
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          149..170
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          171..194
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          195..219
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          220..246
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <395..1054
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          <1120..>1234
                     /region_name="Pro-rich"
                     /note="Proline-rich; pfam15240"
                     /db_xref="CDD:434562"
     Region          1281..2095
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..2213
                     /gene="CNTRL"
                     /gene_synonym="bA165P4.1; CEP1; CEP110; FAN"
                     /coded_by="XM_047422690.1:318..6959"
                     /db_xref="GeneID:11064"
                     /db_xref="HGNC:HGNC:1858"
                     /db_xref="MIM:605496"
ORIGIN      
        1 mkkgsqqkif skakipsssh spipssmsnm rsrslsplig setlpfhsgg qwceqveiad
       61 ennmlldyqd hkgadshagv ryitealikk ltkqdnlali kslnlslskd ggkkfkyien
      121 lekcvklevl nlsynligki ekldkllklr elnlsynkis kiegienmcn lqklnlagne
      181 iehipvwlgk klkslrvlnl kgnkisslqd isklkplqdl islilvenpv vtlphylqft
      241 ifhlrslesl egqpvttqdr qeaferfsle everlerdle kkmieteelk skqtrfleei
      301 knqdklnksl keeamlqkqs ceelksdlnt knelyaeidk apdespyigk srykrnmfat
      361 esyiidsaqa vqikkmepde qlrndhmnlr ghtpldtqle dkekkisaaq trlselhdei
      421 ekaeqqilra teefkqleea iqlkkealdl elqmekqkqe iagkqkeikd lqiaidslds
      481 kdpkhshmka qksgkeqqld imnkqyqqle srldeilsri aketeeikdl eeqltegqia
      541 anealkkdle gvisglqeyl gtikgqatqa qnecrklrde ketllqrlte veqerdqlei
      601 vamdaenmrk elaelesalq eqhevnaslq qtqgdlsaye aelearlnlr daeanqlkee
      661 lekvtrltql eqsalqaele kerqalknal gkaqfseeke qenselhakl khlqddnnll
      721 kqqlkdfqnh lnhvvdglvr peevaarvde lrrklklgtg emnihspsdv lgksladlqk
      781 qfseilarsk werdeaqvre rklqeemalq qeklatgqee frqacerale armnfdkrqh
      841 eariqqmene ihylqenlks meeiqgltdl qlqeadeeke rilaqlrele kkkkledaks
      901 qeqvfgldke lkklkkavat sdklataelt iakdqlkslh gtvmkinqer aeelqeaerf
      961 srkaaqaard ltraeaeiel lqnllrqkge qfrlemektg vgtgansqvl eieklnetme
     1021 rqrteiarlq nvldltgsdn kggfenvlee iaelrrevsy qndyissmad pfkrrgywyf
     1081 mppppsskvs shssqatkds gvglkysast pvrkprpgqq dgkegsqppp asgywvyspi
     1141 rsglhklfps rdadsggdsq eeselddqee ppfvpppgym mytvlpdgsp vpqgmalyap
     1201 ppplpnnsrp ltpgtvvygp ppagapmvyg ppppnfsipf ipmgvlhcnv pehhnlenev
     1261 srledimqhl kskkreerwm raskrqseke meelhhnidd llqekkslec eveelhrtvq
     1321 krqqqkdfid gnveslmtel eiekslkhhe divdeiecie ktllkrrsel readrllaea
     1381 eselsctkek tknavekftd akrsllqtes daeelerraq etavnlvkad qqlrslqada
     1441 kdleqhkikq eeilkeinki vaakdsdfqc lskkkeklte elqklqkdie maernedhhl
     1501 qvlkesevll qakraelekl ksqvtsqqqe mavldrqlgh kkeelhllqg smvqakadlq
     1561 ealrlgetev tekcnhirev kslleelsfq kgelnvqise rktqltlikq eiekeeenlq
     1621 vvlrqmskhk telknildml qlenhelqgl klqhdqrvse lektqvavle eklelenlqq
     1681 isqqqkgeie wqkqllerdk reiermtaes ralqscvecl skekedlqek cdiwekklaq
     1741 tkrvlaaaee nskmeqsnle klelnvrklq qeldqlnrdk lslhndisam qqqlqekrea
     1801 vnslqeelan vqdhlnlakq dllhttkhqd vllseqtrlq kdisewanrf edcqkeeetk
     1861 qqqlqvlqne ieenklklvq qemmfqrlqk ereseeskle tskvtlkeqq hqlekeltdq
     1921 kskldqvlsk vlaaeervrt lqeeerwces lektlsqtkr qlsereqqlv eksgellalq
     1981 keadsmradf sllrnqflte rkkaekqvas lkealkiqrs qleknllman qkdlerrqme
     2041 isdamrtlks evkdeirtsl knlnqflpel padleailer nenlegeles lkenlpftmn
     2101 egpfeeklnf sqvhimdehw rgealreklr hredrlkaql rhcmskqaev likgkrqteg
     2161 tlhslrrqvd algelvtsts adsasspsls qlesslteds qlgqnqekna sar
//
LOCUS       XP_047279239             599 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 2, facilitated glucose transporter member 8
            isoform X1 [Homo sapiens].
ACCESSION   XP_047279239
VERSION     XP_047279239.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423283.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..599
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..599
                     /product="solute carrier family 2, facilitated glucose
                     transporter member 8 isoform X1"
                     /calculated_mol_wt=62681
     Region          3..>196
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          36..591
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     Site            order(40..41,44..45,48,206,256..257,259..261,264,284,
                     287..288,291,386,389..390,393..395,398,424,428,507..508,
                     512,516,532,535..536,539..540,543)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:349949"
     CDS             1..599
                     /gene="SLC2A8"
                     /gene_synonym="GLUT8; GLUTX1"
                     /coded_by="XM_047423283.1:63..1862"
                     /db_xref="GeneID:29988"
                     /db_xref="HGNC:HGNC:13812"
                     /db_xref="MIM:605245"
ORIGIN      
        1 mtpedpeetq pllgppggsa prgrrvflaa faaalgplsf gfalgysspa ipslqraapp
       61 aprlddaaas wfgvrprars srpgtprppl gtgigtlrpp pfpsgqasgp aattfphetg
      121 igplcppslp sgrasspsap tpplgtstgp lsplplpsgr argpgsftse pagsgwrgrm
      181 gcgfgapssa aarlqavvtl gaaaggvlgg wlvdragrkl slllcsvpfv agfavitaaq
      241 dvwmllggrl ltglacgvas lvapvyisei aypavrgllg scvqlmvvvg illaylagwv
      301 lewrwlavlg cvppslmlll mcfmpetprf lltqhrrqea maalrflwgs eqgwedppig
      361 aeqsfhlall rqpgiykpfi igvslmafqq lsgvnavmfy aetifeeakf kdsslasvvv
      421 gviqvlftav aalimdragr rlllvlsgvv mvfstsafga yfkltqggpg nsshvaisap
      481 vsaqpvdasv glawlavgsm clfiagfavg wgpipwllms eifplhvkgv atgicvltnw
      541 lmaflvtkef sslmevlrpy gafwlasafc ifsvlftlfc vpetkgktle qitahfegr
//
LOCUS       XP_016870348            1628 aa            linear   PRI 20-MAR-2023
DEFINITION  focadhesin isoform X7 [Homo sapiens].
ACCESSION   XP_016870348
VERSION     XP_016870348.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014859.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1628
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1628
                     /product="focadhesin isoform X7"
                     /calculated_mol_wt=180433
     Region          317..541
                     /region_name="DUF3730"
                     /note="Protein of unknown function (DUF3730); pfam12530"
                     /db_xref="CDD:432613"
     Region          1040..1628
                     /region_name="Focadhesin"
                     /note="pfam11229"
                     /db_xref="CDD:431744"
     CDS             1..1628
                     /gene="FOCAD"
                     /gene_synonym="KIAA1797; SCOLIV"
                     /coded_by="XM_017014859.2:305..5191"
                     /db_xref="GeneID:54914"
                     /db_xref="HGNC:HGNC:23377"
                     /db_xref="MIM:614606"
ORIGIN      
        1 mapflwylyc epsqlqeyak lrlallkvll qpqvlcdkdq psileqqilq lccdivpclq
       61 vkdliqttea mmfieevcls llrhpvfwki qltqmslqll cvsevslkit gecsssihll
      121 ehsvellked fpvelviigi allllqtpas qqkpilnlal kllsvtedqk ipksslllvm
      181 pilqilssta ledcisvdee gpsrqqlaln llemiqqecy rddhqklsyk lvcpvtsmyg
      241 tiftawrile vmtdssaasd wlasvesllp itavipapaf lllahllved kgqnlhqilk
      301 vttelaqads sqvpnlipvl mfklgrplep ilyndilytl pklgvhkvci gqilriiqll
      361 gttprlravt lrlltslwek qdrvypelqr fmavsdvpsl svgkevqwek liakaasird
      421 ickqrpyqhg admlaaisqv lnectkpdqa tpaalvlqgl halcqaevvc irstwnalsp
      481 klscdtrpli lktlselfsl vpsltvntte yenfkvqvls flwthtqnkd pivanaayrs
      541 lanfsageht ilhlpekirp eipipeeldd dedvedvdls vpgscylkll sltpplvlpa
      601 leefftslvk qemvnmprgi yhsalkggar sdqgktvagi pnfilkmyet nkqpglkpgl
      661 aggmlfcydv smyqskdgkp lnrlmasrgr sfkqtslalv hevhiqlsew hraiflpqaw
      721 laymnrayha ilqgrlgele lqlkhgkeep eevqykksta wlwvrdmltd eitkaaakes
      781 pvvkgnalla lsslavvvsr heaslssdsd gllevqpnfl smkewvsmvl dtllvivdsh
      841 yqprgqllsw fyyksysgen tasaiarsaa atalsllvpv fiisckekve eilnmltarl
      901 pgkpsadesq avqihmglal gmflsrlcee klsdisgqem nlllmkslda lenccfdtsl
      961 eyntgcilgv glvlslmshs sqmqsrvhva allrklsahv ddsgsqsrtf qevlaytlsc
     1021 vctsafsagi ieateaedvm nklrllvens qqtsgfalal gnivhglsvc ghgkaedlgs
     1081 kllpawiriv ltegtptmlc laalhgmval vgsegdvmql kseaiqtshf qgrlnevirt
     1141 ltqvisvsgv iglqsnavwl lghlhlstls ssqsrasvpt dysylpessf igaaigffit
     1201 ggkkgpesvp psllkvvmkp iatvgesyqy ppvnwaalls plmrlnfgee iqqlcleimv
     1261 tqaqssqnaa allglwvtpp lihslslntk ryllisaplw ikhisdeqil gfvenlmvav
     1321 fkaasplgsp elcpsalhgl sqamklpspa hhlwsllsea tgkifdllpn kirrkdlely
     1381 isiakcllem tdddanriaq vtksniekaa fvklylvsqg rfplvnltdm lsvavqhrek
     1441 evlawmilhs lyqarivsha ntgvlkrmew llelmgyirn vayqstsfhn taldkaldff
     1501 llifatavva wadhtaplll glsaswlpwh qengpagpvp sflgrspmhr vtlqevltll
     1561 pnsmalllqk epwkeqtqkf idwlfsimes pkealsaqsr dllkatllsl rvlpefkkka
     1621 vwtraygw
//
LOCUS       XP_006724572             301 aa            linear   PRI 20-MAR-2023
DEFINITION  sex comb on midleg-like protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_006724572
VERSION     XP_006724572.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006724509.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..301
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..301
                     /product="sex comb on midleg-like protein 1 isoform X4"
                     /calculated_mol_wt=33957
     Region          224..295
                     /region_name="SAM_Scm"
                     /note="SAM domain of Scm proteins of Polycomb group;
                     cd09578"
                     /db_xref="CDD:188977"
     Site            order(243,279..282,284..285,288,291)
                     /site_type="other"
                     /note="oligomer interface EH [polypeptide binding]"
                     /db_xref="CDD:188977"
     Site            order(256..260,262..263,266..267,270..271,273..276)
                     /site_type="other"
                     /note="oligomer interface ML [polypeptide binding]"
                     /db_xref="CDD:188977"
     CDS             1..301
                     /gene="SCML1"
                     /coded_by="XM_006724509.5:6695..7600"
                     /db_xref="GeneID:6322"
                     /db_xref="HGNC:HGNC:10580"
                     /db_xref="MIM:300227"
ORIGIN      
        1 mmsnssseid vepnivsdas cnteeqlktv ddvlihcqvi ydalqnldkk idvirrkvsk
       61 iqrfharslw tnhkrygykk hsyrlvkklk lqkmkknevy etfsypesys ptlpvsrren
      121 nspsnlprps fcmeeyqrae leedpilsrt pspvhpsdfs ehncqpyyas dgatygsssg
      181 lclgnprads ihntystdha saappsvtrs pvendgyiee gsitkhpstw sveavvlflk
      241 qtdplalcpl vdlfrsheid gkalllltsd vllkhlgvkl gtavklcyyi drlkqgkcfe
      301 n
//
LOCUS       XP_054184637            1074 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 12 member 7 isoform X4 [Homo sapiens].
ACCESSION   XP_054184637
VERSION     XP_054184637.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328662.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187548.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1074
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     Protein         1..1074
                     /product="solute carrier family 12 member 7 isoform X4"
                     /calculated_mol_wt=118270
     CDS             1..1074
                     /gene="SLC12A7"
                     /gene_synonym="KCC4"
                     /coded_by="XM_054328662.1:54..3278"
                     /db_xref="GeneID:10723"
                     /db_xref="HGNC:HGNC:10915"
                     /db_xref="MIM:604879"
ORIGIN      
        1 maqtslwllr eeagpgpans hvtegsgrdg nprenspfln nveveqesff egknmalfee
       61 emdsnpmvss llnklanytn lsqgvvehee deesrrreak aprmgtfigv ylpclqnilg
      121 vilflrltwi vgvagvlesf livamcctct mltaismsai atngvvpagg syymisrslg
      181 pefggavglc fylgttfaga myilgtieif ltyispgaai fqaeaaggea aamlhnmrvy
      241 gtctlvlmal vvfvgvkyvn klalvflacv vlsilaiyag viksafdppd ipvcllgnrt
      301 lsrrsfdacv kaygihnnsa tsalwglfcn gsqpsaacde yfiqnnvtei qgipgaasgv
      361 flenlwstya hagafvekkg vpsvpvaees rastlpyvlt diaasftllv giyfpsvtgi
      421 magsnrsgdl kdaqksiptg tilaivttsf iylscivlfg aciegvvlrd kfgealqgnl
      481 vigmlawpsp wvivigsffs tcgaglqslt gaprllqaia rdgivpflqv fghgkangep
      541 twallltvli cetgiliasl dsvapilsmf flmcylfvnl acavqtllrt pnwrprfkfy
      601 hwtlsflgms lclalmfics wyyalsamli agciykyiey rgaekewgdg irglslnaar
      661 yallrvehgp phtknwrpqv lvmlnldaeq avkhprllsf tsqlkagkgl tivgsvlegt
      721 yldkhmeaqr aeenirslms tektkgfcql vvssslrdgm shliqsaglg glkhntvlma
      781 wpaswkqedn pfswknfvdt vrdttaahqa llvaknvdsf pqnqerfggg hidvwwivhd
      841 ggmlmllpfl lrqhkvwrkc rmriftvaqv ddnsiqmkkd lqmflyhlri saevevvemv
      901 endisaftye rtlmmeqrsq mlkqmqlskn eqereaqlih drntashtaa aartqapptp
      961 dkvqmtwtre kliaekyrsr dtslsgfkdl fsmkpewgnl dqsnvrrmht avklngvvln
     1021 ksqdaqlvll nmpgppknrq gdenymefle vlteglnrvl lvrgggrevi tiys
//
LOCUS       XP_054186123            1037 aa            linear   PRI 20-MAR-2023
DEFINITION  NACHT, LRR and PYD domains-containing protein 7 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054186123
VERSION     XP_054186123.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330148.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571055.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1037
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..1037
                     /product="NACHT, LRR and PYD domains-containing protein 7
                     isoform X5"
                     /calculated_mol_wt=118173
     CDS             1..1037
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /coded_by="XM_054330148.1:288..3401"
                     /db_xref="GeneID:199713"
                     /db_xref="HGNC:HGNC:22947"
                     /db_xref="MIM:609661"
ORIGIN      
        1 mtspqlewtl qtlleqlned elksfksllw afpledvlqk tpwseveead gkklaeilvn
       61 tssenwirna tvnileemnl telckmakae mmedgqvqei dnpelgdaee dselakpgek
      121 egwrnsmekq slvwkntfwq gdidnfhddv tlrnqrfipf lnprtprklt pytvvlhgpa
      181 gvgkttlakk cmldwtdcnl sptlryafyl sckelsrmgp csfaeliskd wpelqddips
      241 ilaqaqrilf vvdgldelkv ppgaliqdic gdwekkkpvp vllgsllkrk mlpraallvt
      301 trpralrdlq llaqqpiyvr vegfleedrr ayflrhfgde dqamrafelm rsnaalfqlg
      361 sapavcwivc ttlklqmekg edpvptcltr tglflrflcs rfpqgaqlrg alrtlsllaa
      421 qglwaqmsvf hredlerlgv qesdlrlfld gdilrqdrvs kgcysfihls fqqfltalfy
      481 alekeegedr dghawdigdv qkllsgeerl knpdliqvgh flfglanekr akeleatfgc
      541 rmspdikqel lqckahlhan kplsvtdlke vlgclyesqe eelakvvvap fkeisihltn
      601 tsevmhcsfs lkhcqdlqkl slqvakgvfl enymdfeldi eferctylti pnwarqdlrs
      661 lrlwtdfcsl fssnsnlkfl evkqsflsds svrilcdhvt rstchlqkve iknvtpdtay
      721 rdfclafigk ktlthltlag hiewertmml mlcdllrnhk cnlqylrlgg hcatpeqwae
      781 ffyvlkanqs lkhlrlsanv lldegamlly ktmtrpkhfl qmlslencrl teasckdlaa
      841 vlvvskklth lclaknpigd tgvkflcegl sypdcklqtl vlqqcsitkl gcrylsealq
      901 eacsltnldl sinqiarglw ilcqalenpn cnlkhlrlws cslmpfycqh lgsallsnqk
      961 letldlgqnh lwksgiiklf gvlrqrtgsl kilrlktyet nleikkllee vkeknpklti
     1021 dcnasgatap pccdffc
//
LOCUS       XP_054187017             699 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 311 isoform X1 [Homo sapiens].
ACCESSION   XP_054187017
VERSION     XP_054187017.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331042.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 9% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..699
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..699
                     /product="zinc finger protein 311 isoform X1"
                     /calculated_mol_wt=79938
     CDS             1..699
                     /gene="ZNF311"
                     /gene_synonym="zf31"
                     /coded_by="XM_054331042.1:420..2519"
                     /db_xref="GeneID:282890"
                     /db_xref="HGNC:HGNC:13847"
ORIGIN      
        1 mqevrrggsv ihhkeeegev sprkkessvv lldessgpps qllwtrqdtq lpqesallpa
       61 pypaftkdgs qgnlpqadit lmsqaqdsrs ilfqesvtfe dvavnftnre wqcltyaqrh
      121 lykdvmleny gnmvslgfpf pkpplishle revdpcvqdp qdreslscsy pvsadkmwpe
      181 nekassqqei fengeaywmk fnsllkvdsr dpkvrevcvq dvklenqwet sireklreek
      241 egseevtckk gknqkvlskn lnpnskhsqc nkvliaqklh ecarcgknfs whsdlilheq
      301 ihsgekphvc necgkafktr nqlsmhriih tgekpfnctq cgkafnsrsa lcrhkkthsg
      361 ekphecrdcg kafktrnrlc mhqlihtgek pykcnccgka fqfkhsltih grihtgekpy
      421 eceecgkafs gssdltkhir ihtgerpyec skcgrafsrs sdlskhkrih trekhygcpq
      481 cgkdfsikae ltkhrrihte ekryrceecg kafrhnckrr aherehtgek pyqcrdcgkt
      541 fqdkhcltih qrihtgekpy kclecgkafs gksnltnhrr ihtgekphkc evcgmafhhs
      601 svlrqhkrih tgekpytcse cgtsfrqgsa lighkrvhtg ekpyeceecg kafrvssnlt
      661 ghkkrkhqvw stheldgsrk slspvtvsqt svvsiltsa
//
LOCUS       XP_054188740            1197 aa            linear   PRI 20-MAR-2023
DEFINITION  polyamine-transporting ATPase 13A2 isoform X2 [Homo sapiens].
ACCESSION   XP_054188740
VERSION     XP_054188740.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332765.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791756) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1197
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     Protein         1..1197
                     /product="polyamine-transporting ATPase 13A2 isoform X2"
                     /calculated_mol_wt=130128
     CDS             1..1197
                     /gene="ATP13A2"
                     /gene_synonym="CLN12; HSA9947; KRPPD; PARK9; SPG78"
                     /coded_by="XM_054332765.1:191..3784"
                     /db_xref="GeneID:23400"
                     /db_xref="HGNC:HGNC:30213"
                     /db_xref="MIM:610513"
ORIGIN      
        1 msadssplvg stptgygtlt igtsidplss svssvrlsgy cgspwrvigy hvvvwmmagi
       61 plllfrwkpl wgvrlrlrpc nlahaetlvi eirdkedssw qlftvqvqte aigegsleps
      121 pqsqaedgrs qaavgavpeg awkdtaqlhk seeakrvlry ylfqgqryiw ietqqafyqv
      181 slldhgrscd dvhrsrhgls lqdqmvrkai ygpnvisipv ksypqllvde alnpyygfqa
      241 fsialwladh yywyalcifl issisiclsl yktrkqsqtl rdmvklsmrv cvcrpggeee
      301 wvdsselvpg dclvlpqegg lmpcdaalva gecmvnessl tgesipvlkt alpeglgpyc
      361 aethrrhtlf cgtlilqara yvgphvlavv trtgfctakg glvssilhpr pinfkfykhs
      421 mkfvaalsvl allgtiysif ilyrnrvpln eiviraldlv tvvvppalpa amtvctlyaq
      481 srlrrqgifc ihplrinlgg klqlvcfdkt gtltedgldv mgvvplkgqa flplvpeprr
      541 lpvgpllral atchalsrlq dtpvgdpmdl kmvestgwvl eeepaadsaf gtqvlavmrp
      601 plwepqlqam eeppvpvsvl hrfpfssalq rmsvvvawpg atqpeayvkg spelvaglcn
      661 petvptdfaq mlqsytaagy rvvalaskpl ptvpsleaaq qltrdtvegd lsllgllvmr
      721 nllkpqttpv iqalrrtrir avmvtgdnlq tavtvargcg mvapqehlii vhathpergq
      781 pasleflpme sptavngvkd pdqaasytve pdprsrhlal sgptfgiivk hfpkllpkvl
      841 vqgtvfarma peqktelvce lqklqycvgm cgdgandcga lkaadvgisl sqaeasvvsp
      901 ftssmasiec vpmviregrc sldtsfsvfk ymalysltqf isvlilytin tnlgdlqfla
      961 idlvitttva vlmsrtgpal vlgrvrppga llsvpvlssl llqmvlvtgv qlggyfltla
     1021 qpwfvplnrt vaapdnlpny entvvfslss fqylilaaav skgapfrrpl ytnerarpvp
     1081 prlpapppaq aglqealqaa gtragraala aaarrppevv qahghprhwn slplshqldp
     1141 spatpppppp tslrlatvyt ppprppppwg svdycplpwt iprrggspql psvllsv
//
LOCUS       XP_054188858             607 aa            linear   PRI 20-MAR-2023
DEFINITION  sphingomyelin phosphodiesterase 4 isoform X4 [Homo sapiens].
ACCESSION   XP_054188858
VERSION     XP_054188858.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332883.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791762) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..607
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.1"
     Protein         1..607
                     /product="sphingomyelin phosphodiesterase 4 isoform X4"
                     /calculated_mol_wt=68123
     CDS             1..607
                     /gene="SMPD4"
                     /gene_synonym="NEDMABA; NEDMEBA; NET13; NSMASE-3; NSMASE3;
                     SKNY"
                     /coded_by="XM_054332883.1:191..2014"
                     /db_xref="GeneID:55627"
                     /db_xref="HGNC:HGNC:32949"
                     /db_xref="MIM:610457"
ORIGIN      
        1 mqtppptrsg gqklcsrfll kcgfitipwr cikkcsplmp swrfcttdsv spapstappn
       61 pasrpstptk slgnrgsdar gfywaefssg cvqdeeqesf tpteehvlvv rlllkhlhaf
      121 anslkpeqas psahshatsp leefkraavp rfvqqklylf lqhcfghwpl dasfravlem
      181 wlsylqpwry apdkqapgsd sqprcvsekw apfvqenllm ytklfvgfln ralrtdlvsp
      241 khalmvfrva kvfaqpnlae miqkgeqlfl epelviphrq hrlftaptft gsflspwppa
      301 vtdasfkvks hvyslegqdc kytpmfgpea rtlvlrlaql itqakhtaks isdqcaespa
      361 ghsflswlgf ssmdtngsyt andldemgqd svrktdeyle kaleylrqif rlseaqlrqf
      421 tlalgttqde ngkkqlpdci vgedgliltp lgryqiingl rrfeieyqgd pelqpirsye
      481 iaslvrtlfr lssainhrfa gqmaalcsrd dflgsfcryh ltepglasrh llspvgrrqv
      541 aghtrgprls lrflgsyrtl vslllaffva slfcvgplpc tllltlgyvl yasamtllte
      601 rgklhqp
//
LOCUS       XP_054189535             770 aa            linear   PRI 20-MAR-2023
DEFINITION  CCR4-NOT transcription complex subunit 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054189535
VERSION     XP_054189535.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333560.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571061.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..770
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..770
                     /product="CCR4-NOT transcription complex subunit 3 isoform
                     X2"
                     /calculated_mol_wt=83555
     CDS             1..770
                     /gene="CNOT3"
                     /gene_synonym="IDDSADF; LENG2; NOT3; NOT3H"
                     /coded_by="XM_054333560.1:3235..5547"
                     /db_xref="GeneID:4849"
                     /db_xref="HGNC:HGNC:7879"
                     /db_xref="MIM:604910"
ORIGIN      
        1 madkrklqge idrclkkvse gveqfediwq klhnaananq kekyeadlkk eikklqrlrd
       61 qiktwvasne ikdkrqlidn rklietqmer fkvveretkt kayskeglgl aqkvdpaqke
      121 keevgqwltn tidtlnmqvd qfesevesls vqtrkkkgdk dkqdrieglk rhiekhryhv
      181 rmletilrml dndsilvdai rkikddveyy vdssqdpdfe eneflyddld ledipqalva
      241 tsppshshme deifnqssst ptsttssspi ppspanctte nseddkkrgr stdsevsqsp
      301 akngskpvhs nqhpqspavp ptypsgpppa asalsttpgn ngvpapaapp salgpkaspa
      361 pshnsgtpap yaqavappap sgpsttqprp psvqpsgggg ggsggggsss ssnssaggga
      421 gkqngatsys svvadspaev alsssggnna ssqalgppsg phnpppstsk epsaaaptga
      481 ggvapgsgnn sggpsllvpl pvnppssptp sfsdakaaga llngppqfst apeikapepl
      541 sslksmaera aissgiedpv ptlhlterdi ilsstsappa saqpplqlse vniplslgvc
      601 plgpvpltke qlyqqameea awhhmphpsd serirqylpr npcptppyhh qmppphsdtv
      661 efyqrlstet lffifyyleg tkaqylaaka lkkqswrfht kymmwfqrhe epktitdefe
      721 qipdhllvhs ltafspgqgt yiyfdyekwg qrkkegftfe yryledrdlq
//
LOCUS       XP_054189893             453 aa            linear   PRI 20-MAR-2023
DEFINITION  AP-4 complex subunit beta-1 isoform X10 [Homo sapiens].
ACCESSION   XP_054189893
VERSION     XP_054189893.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054333918.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..453
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..453
                     /product="AP-4 complex subunit beta-1 isoform X10"
                     /calculated_mol_wt=50955
     CDS             1..453
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /coded_by="XM_054333918.1:83..1444"
                     /db_xref="GeneID:10717"
                     /db_xref="HGNC:HGNC:572"
                     /db_xref="MIM:607245"
ORIGIN      
        1 mpylgsedvv kelkkalcnp hiqadrlryr nviqrvirym tqgldmsgvf memvkasatv
       61 divqkklvyl ymctyaplkp dlallaintl ckdcsdpnpm vrglalrsmc slrmpgvqey
      121 iqqpilnglr dkasyvrrva vlgcakmhnl hgdsevdgal vnelysllrd qdpivvvncl
      181 rsleeilkqe ggvvinkpia hhllnrmskl dqwgqaevln fllryqprse eelfdilnll
      241 dsflkssspg vvmgatklfl ilakmfphvq tdvlvrvkgp llaacssesr elcfvalchv
      301 rqilhslpgh fsshykkffc sysephyikl qkvevlcelv ndenvqqvle elrgyctdvs
      361 adfaqaaifa iggiartytd qcvqiltell glrqehittv vvqtfrdlvw lcpqcteavc
      421 qalpgceeni qdserkkkiw lygtevssii ass
//
LOCUS       XP_054193277             549 aa            linear   PRI 20-MAR-2023
DEFINITION  sushi domain-containing protein 4 isoform X2 [Homo sapiens].
ACCESSION   XP_054193277
VERSION     XP_054193277.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337302.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..549
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..549
                     /product="sushi domain-containing protein 4 isoform X2"
                     /calculated_mol_wt=59954
     CDS             1..549
                     /gene="SUSD4"
                     /gene_synonym="PRO222"
                     /coded_by="XM_054337302.1:241..1890"
                     /db_xref="GeneID:55061"
                     /db_xref="HGNC:HGNC:25470"
                     /db_xref="MIM:615827"
ORIGIN      
        1 mkdvswnepe qwrwisraaa aaaatsvppe tlgrdpvvsa gavlrpctah grtgvasrns
       61 qswqkgkqth psshggskek crerrkslik psdlmrthsl sqeqhggfdd lqvcadpgip
      121 engfrtpsgg vffegsvarf hcqdgfklkg atkrlclkhf ngtlgwipsd nsicvqedcr
      181 ipqiedaeih nktyrhgekl iitchegfki rypdlhnmvs lcrddgtwnn lpicqgclrp
      241 lassngyvni selqtsfpvg tvisyrcfpg fkldgsayle clqnliwsss pprclaleaq
      301 vcplppmvsh gdfvchprpc erynhgtvve fycdpgyslt sdykyitcqy gewfpsyqvy
      361 cikseqtwps thetllttwk ivaftatsvl lvlllvilar mfqtkfkahf pprgpprsss
      421 sdpdfvvvdg vpvmlpsyde avsgglsalg pgymasvgqg cplpvddqsp paypgsgdtd
      481 tgpgesetcd svsgssellq slyspprcqe sthpasdnpd iiastaeeva stspgidiad
      541 eiplmeedp
//
LOCUS       XP_054193372            1235 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 10-like protein isoform X7
            [Homo sapiens].
ACCESSION   XP_054193372
VERSION     XP_054193372.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337397.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1235
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1235
                     /product="rho guanine nucleotide exchange factor 10-like
                     protein isoform X7"
                     /calculated_mol_wt=135003
     CDS             1..1235
                     /gene="ARHGEF10L"
                     /gene_synonym="GrinchGEF"
                     /coded_by="XM_054337397.1:154..3861"
                     /db_xref="GeneID:55160"
                     /db_xref="HGNC:HGNC:25540"
                     /db_xref="MIM:612494"
ORIGIN      
        1 massnpppqp aigdqlvpgv pgpsseaedd pgeafefdds ddeedtsaal gvpslaperd
       61 tdpplihlds ipvtdpdpaa appgtgvpaw vsngdaadaa fsgarhsswk rkssrridrf
      121 tfpaleedvi yddvpcespd ahqpgaernl lyedahraga prqaedlgws ssefesysed
      181 sgeeakpeve vepakhrvsf qpkmtqlmka aksgtkdgle ktrmavmrkv sflhrkdvlg
      241 dseeedmgll evsvsdikpp apelgpmpeg lspqqvvrrh ilgsivqseg syveslkril
      301 qdyrnplmem epkalsarkc qvvffrvkei lhchsmfqia lssrvaewds tekigdlfva
      361 sfsksmvldv ysdyvnnfts amsiikkacl tkpafleflk rrqvcspdrv tlyglmvkpi
      421 qrfpqfilll qdmlkntprg hpdrlslqla lteletlaek lneqkrladq vaeiqqltks
      481 vsdrsslnkl ltsgqrqlll cetltetvyg drgqlikske rrvfllndml vcaninfkgq
      541 leisslvplg pkyvvkwnta lpqvqvvevg qdggtydkdn vliqhsgakk asasgqaqnk
      601 vylgpprlfq elqdlqkdla vveqitllis tlhgtyqnln mtvaqdwcla lqrlmrvkee
      661 eihsankcrl rlllpgkpdk sgrpisfmvv fitpnplski swvnrlhlak iglreenqpg
      721 wlcpdedkks kapfwcpila ccipafssra lslqlgalvh spvncpllgf savstslpqg
      781 ylwvgggqeg aggqveifsl nrpsprtvks fplaapvlcm eyipeleeea esrdesptva
      841 dpsatvhpti clglqdgsil lyssvdtgtq clvscrspgl qpvlclrhsp fhllaglqdg
      901 tlaayprtsg gvlwdlespp vcltvgpgpv rtllsledav wascgprvtv leattlqpqq
      961 sfeahqdeav svthmvkags gvwmafssgt sirlfhtetl ehlqeiniat rttfllpgqk
     1021 hlcvtsllic qgllwvgtdq gvivllpvpr legipkitgk gmvslnghcg pvaflavats
     1081 ilapdilrsd qeeaegprae edkpdgqahe pmpdshvgre ltrkkgillq yrlrstahlp
     1141 gpllsmrepa padgaalehs eedgsiyema ddpdvwvrsr pcardahrke icsvaiisgg
     1201 qgyrnfgsal gssgrqapcg etdstlliwq vplml
//
LOCUS       XP_054194923             425 aa            linear   PRI 20-MAR-2023
DEFINITION  cell division cycle 7-related protein kinase isoform X4 [Homo
            sapiens].
ACCESSION   XP_054194923
VERSION     XP_054194923.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338948.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..425
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..425
                     /product="cell division cycle 7-related protein kinase
                     isoform X4"
                     /calculated_mol_wt=47452
     CDS             1..425
                     /gene="CDC7"
                     /gene_synonym="CDC7L1; HsCDC7; Hsk1; huCDC7"
                     /coded_by="XM_054338948.1:335..1612"
                     /db_xref="GeneID:8317"
                     /db_xref="HGNC:HGNC:1745"
                     /db_xref="MIM:603311"
ORIGIN      
        1 mgvkycfrkn dhvviampyl ehesfldiln slsfqevrey mlnlfkalkr ihqfgivhrd
       61 vkpsnflynr rlkkyalvdf glaqgthdtk iellkfvqse aqqercsqnk shiitgnkip
      121 lsgpvpkeld qqsttkasvk rpytnaqiqi kqgkdgklmk qsktvdvlsr klatkkkais
      181 tkvmnsavmr ktasscpasl tcdcyatdkv csiclsrrqq vapragtpgf rapevltkcp
      241 nqttaidmws agviflslls grypfykasd dltalaqimt irgsretiqa aktfgksilc
      301 skevpaqdlr klcerlrgmd sstpkltsdi qghashqpai sektdhkasc lvqtppgqys
      361 gnsfkkgdsn scehcfdeyn tnlegwnevp deaydlldkl ldlnpasrit aeeallhpff
      421 kdmsl
//
LOCUS       XP_054220574             490 aa            linear   PRI 20-MAR-2023
DEFINITION  CUGBP Elav-like family member 2 isoform X9 [Homo sapiens].
ACCESSION   XP_054220574
VERSION     XP_054220574.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364599.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..490
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..490
                     /product="CUGBP Elav-like family member 2 isoform X9"
                     /calculated_mol_wt=52138
     CDS             1..490
                     /gene="CELF2"
                     /gene_synonym="BRUNOL3; CELF-2; CUG-BP2; CUGBP2; DEE97;
                     ETR-3; ETR3; NAPOR"
                     /coded_by="XM_054364599.1:108..1580"
                     /db_xref="GeneID:10659"
                     /db_xref="HGNC:HGNC:2550"
                     /db_xref="MIM:602538"
ORIGIN      
        1 mngaldhsdq pdpdaikmfv gqiprswsek elkelfepyg avyqinvlrd rsqnppqskg
       61 ccfvtfytrk aaleaqnalh niktlpgmhh piqmkpadse ksnavedrkl figmvskkcn
      121 endirvmfsp fgqieecril rgpdglsrgc afvtfstram aqnaikamhq sqtmegcssp
      181 ivvkfadtqk dkeqrrlqqq laqqmqqlnt atwgnltglg gltpqylall qqatsssnlg
      241 afsgiqqmag mnalqlqnla tlaaaaaaaq tsatstnanp lsttssalga ltspvaastp
      301 nstagaamns ltslgtlqgl agatvglnni nalavaqmls gmaalngglg atgltngtag
      361 tmdaltqays giqqyaaaal ptlysqsllq qqsaagsqke gpeganlfiy hlpqefgdqd
      421 ilqmfmpfgn visakvfidk qtnlskcfgf vsydnpvsaq aaiqamngfq igmkrlkvql
      481 krskndskpy
//
LOCUS       XP_054221968             196 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium homeostasis modulator protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054221968
VERSION     XP_054221968.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365993.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..196
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..196
                     /product="calcium homeostasis modulator protein 2 isoform
                     X2"
                     /calculated_mol_wt=21411
     CDS             1..196
                     /gene="CALHM2"
                     /gene_synonym="FAM26B"
                     /coded_by="XM_054365993.1:1278..1868"
                     /db_xref="GeneID:51063"
                     /db_xref="HGNC:HGNC:23493"
                     /db_xref="MIM:612235"
ORIGIN      
        1 maaliaenfr flslffkskd vmifnglval gtvgsqelfs vvafhcpcsp arnylyglaa
       61 igvpalvlfi igiilnnhtw nlvaecqhrr tkncsaaptf lllssilgra avapvtwsvi
      121 sllrgeayvc alsefvdpss ltareehfps ahateilarf pckenpdnls dfreevsrrl
      181 ssldgcssaw wpswcs
//
LOCUS       XP_054222062             769 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-dependent 6-phosphofructokinase, platelet type isoform X3 [Homo
            sapiens].
ACCESSION   XP_054222062
VERSION     XP_054222062.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366087.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..769
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..769
                     /product="ATP-dependent 6-phosphofructokinase, platelet
                     type isoform X3"
                     /calculated_mol_wt=83844
     CDS             1..769
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /coded_by="XM_054366087.1:8707..11016"
                     /db_xref="GeneID:5214"
                     /db_xref="HGNC:HGNC:8878"
                     /db_xref="MIM:171840"
ORIGIN      
        1 mvdggsniae adwesvssil qvggtiigsa rcqafrtreg rlkaacnllq rgitnlcvig
       61 gdgsltganl frkewsglle elarngqidk eavqkyayln vvgmvgsidn dfcgtdmtig
      121 tdsalhriie vvdaimttaq shqrtfvlev mgrhcgylal vsalacgadw vflpesppee
      181 gweeqmcvkl senrarkkrl niiivaegai dtqnkpitse kikelvvtql gydtrvtilg
      241 hvqrggtpsa fdrilasrmg veaviallea tpdtpacvvs lngnhavrlp lmecvqmtqd
      301 vqkamderrf qdavrlrgrs fagnlntykr laiklpddqi pktncnvavi nvgapaagmn
      361 aavrsavrvg iadghrmlai ydgfdgfakg qikeigwtdv ggwtgqggsi lgtkrvlpgk
      421 yleeiatqmr thsinallii ggfeaylgll elsaarekhe efcvpmvmvp atvsnnvpgs
      481 dfsigadtal ntitdayksa cdmaeargrh qelciplcvv patisnnvpg teislgsdtg
      541 lnavvetcdr ikqsasgtkr rvfiietmgg ycgylanmgg laagadaayi feepfdirdl
      601 qsnvehltek mkttiqrglv lrnescseny ttdfiyqlys eegkgvfdcr knvlghmqqg
      661 gapspfdrnf gtkisarame witaklkear grgkkfttdd sicvlgiskr nvifqpvael
      721 kkqtdfehri pkeqwwlklr plmkilakyk asydvsdsgq lehvqpwsv
//
LOCUS       XP_054222945             762 aa            linear   PRI 20-MAR-2023
DEFINITION  actin filament-associated protein 1-like 2 isoform X37 [Homo
            sapiens].
ACCESSION   XP_054222945
VERSION     XP_054222945.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366970.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..762
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..762
                     /product="actin filament-associated protein 1-like 2
                     isoform X37"
                     /calculated_mol_wt=84637
     CDS             1..762
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /coded_by="XM_054366970.1:240..2528"
                     /db_xref="GeneID:84632"
                     /db_xref="HGNC:HGNC:25901"
                     /db_xref="MIM:612420"
ORIGIN      
        1 mnkvtinkqq naesqgkape eqgllpngep sqhssapqks lpdlpppkmi perkqlaipk
       61 tespegyyee aepydtslne dgeavsssye sydeedgskg ksapyqwpsp eagielmrda
      121 ricaflwrkk wlgqwakqlc vikdnrllcy ksskdhspql dvnllgssvi hkekqvrkke
      181 hklkitpmna dvivlglqsk dqaeqwlrvi qevsglpseg asegnqytpd aqrfncqkpd
      241 iaekylsase ygssvdghpe vpetkdvkkk csaglklsnl mnlgrkksts lepverslet
      301 ssylnvlvns qwksrwcsvr dnhlhfyqdr nrskvaqqpl slvgcevvpd pspdhlysfr
      361 ilhkgeelak leaksseemg hwlglllses gsktdpeeft ydyvdadrvs civsaaknsl
      421 llmqrkfsep ntyidglpsq drqeelyddv dlseltaave pteeatpvad dpneresdrv
      481 yldltpvksf lhgpssaqaq assptlscld natealpads gpgptpdepc ikcpenlgeq
      541 qleslepedp slrittvkiq teqqrisfpp scpdavvatp pgasppvkdr lrvtsaeikl
      601 gknrteaevk ryteekerle kkkeeirghl aqlrkekrel ketllkctdk evlasleqkl
      661 keideecrge esrrvdlels imevkdnlkk aeagpvtlgt tvdtthlenv sprpkavtpa
      721 sapdctpvns attlknrpls vvvtgkgtvl qkakewekkg as
//
LOCUS       XP_054223887             871 aa            linear   PRI 20-MAR-2023
DEFINITION  disks large homolog 2 isoform X21 [Homo sapiens].
ACCESSION   XP_054223887
VERSION     XP_054223887.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367912.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..871
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..871
                     /product="disks large homolog 2 isoform X21"
                     /calculated_mol_wt=96473
     CDS             1..871
                     /gene="DLG2"
                     /gene_synonym="chapsyn-110; PPP1R58; PSD-93; PSD93"
                     /coded_by="XM_054367912.1:193..2808"
                     /db_xref="GeneID:1740"
                     /db_xref="HGNC:HGNC:2901"
                     /db_xref="MIM:603583"
ORIGIN      
        1 mnayltkqhs csrgsdgmda vrsaptlird ahcacgwqrn cqglgyssqt mpssgpggpa
       61 snrtggssfn rtlwdsvrks phktstkgkg tcgehctcph gwfspaqasp apiivntdtl
      121 dtipyvngte ieyefeeitl ergnsglgfs iaggtdnphi gddpgifitk iipggaaaed
      181 grlrvndcil rvnevdvsev shskavealk eagsivrlyv rrrrpiletv veiklfkgpk
      241 glgfsiaggv gnqhipgdns iyvtkiidgg aaqkdgrlqv gdrllmvnny sleevtheea
      301 vailkntsev vylkvgkptt iymtdpygpp dithsysppm enhllsgnng tleyktslpp
      361 ispgryspip khmlvdddyt shsqhstatr qpsmtlqrav slegeprkvv lhkgstglgf
      421 nivggedgeg ifvsfilagg padlsgelqr gdqilsvngi dlrgasheqa aaalkgagqt
      481 vtiiaqyqpe dyarfeakih dlreqmmnhs mssgsgslrt nqkrslyvra mfdydkskds
      541 glpsqglsfk ygdilhvina sddewwqarr vmlegdseem gvipskrrve rkerarlktv
      601 kfnakpgvid skgsfndkrk ksfifsrkfp fyknkeqseq etsdpeqhvs snasdsessy
      661 rgqedlilsy epvtrqeiny trpviilgpm kdrinddlis efpdkfgscv phttrpkrdy
      721 evdgrdyhfv isreqmekdi qehkfieagq yndnlygtsv qsvrfvaerg khcildvsgn
      781 aikrlqvaql ypiaifikpr sleplmemnk rlteeqakkt ydraikleqe fgeyftaivq
      841 gdtlediynq cklvieeqsg pfiwipskek l
//
LOCUS       XP_054224070            1385 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 164 kDa isoform X40 [Homo sapiens].
ACCESSION   XP_054224070
VERSION     XP_054224070.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368095.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1385
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1385
                     /product="centrosomal protein of 164 kDa isoform X40"
                     /calculated_mol_wt=156255
     CDS             1..1385
                     /gene="CEP164"
                     /gene_synonym="NPHP15"
                     /coded_by="XM_054368095.1:391..4548"
                     /db_xref="GeneID:22897"
                     /db_xref="HGNC:HGNC:29182"
                     /db_xref="MIM:614848"
ORIGIN      
        1 magrplrigd qlvleedyde tyipseqeil efareigidp ikepelmwla regivaplpg
       61 ewkpcqditg diyyfnfang qsmwdhpcde hyrslviqer aklstsgaik kkkkkkekkd
      121 kkdrdppkss lalgsslapv hvplgglapl rglvdtppsa lrgsqsvslg ssvesgrqlg
      181 elmlpsqglk tsaytkgllg siyedktals llglgeetne edeeesdnqe slrtsqpeek
      241 kdvsldsdaa gpptpckpss pgadsslssa vgkgrqgsga rpglpekeen eksepkicrn
      301 lvtpkadptg sepakaseke apedtvdage egsrreeaak epkkkasale egssdasqel
      361 eisehmkepq lsdsiasdpk sfhgldfgfr srisehlldv dvlspvlgga crqaqqplgi
      421 edkddsqssq delqskqskg leerlspplp heeraqsppr slateeeppq gpegqpewke
      481 aeelgedsaa slslqlslqr rstepvappe qlseaalkam eeavaqvleq dqrhlleskq
      541 ekmqqlrekl cqeeeeeilr lhqqkeqsls slrerlqkai eeeearmree esqrlswlra
      601 qvqsstqade dqiraeqeas lqklreeles qqkaerasle qknrqmleql keeieaseks
      661 eqaalnaake kalqqlreql egerkeavat lekehsaele rlcssleakh revvsslqkk
      721 iqeaqqkeea qlqkclgqve hrvhqksyhv agyehelssl lrekrqeveg eherrldkmk
      781 eehqqvmaka reqyeaeerk qraellghlt gelerlqrah ereletvrqe qhkrledlrr
      841 rhreqerklq dleldletra kdvkarlall evqeetarre kqqlldvqrq valkseeata
      901 thqqleeaqk ehthllqsnq qlreildelq arklklesqv dllqaqsqql qkhfssleae
      961 aqkkqhllre vtveennasp hfepdlhied lrkslgtnqt kevssslsqs kedlyldsls
     1021 shnvwhllsa egvalrsake flvqqtrsmr rrqtalkaaq qhwrhelasa qevakdppgi
     1081 kaledmrknl eketrhldem ksamrkghnl lkkkeeklnq lesslweeas degtlggspt
     1141 kkavtfdlsd mdslssesse sfspphreww rqqridstps ltsrkihgls hslrqissql
     1201 ssvlsildsl npqsppplla smpaqlpprd pkstptptyy gslarfsals satptstqwa
     1261 wdsgqgprlp ssvaqtvddf llekwrkyfp sgipllsnsp tplesrlgym saseqlrllq
     1321 hshsqvpeag sttfqgiiea nrrwlervkn dprlplfsst pkpkatlsll qlgldehnrv
     1381 kvyrf
//
LOCUS       XP_054224124            1540 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology-like domain family B member 1 isoform X8 [Homo
            sapiens].
ACCESSION   XP_054224124
VERSION     XP_054224124.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368149.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1540
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1540
                     /product="pleckstrin homology-like domain family B member
                     1 isoform X8"
                     /calculated_mol_wt=168344
     CDS             1..1540
                     /gene="PHLDB1"
                     /gene_synonym="LL5A; LL5alpha"
                     /coded_by="XM_054368149.1:259..4881"
                     /db_xref="GeneID:23187"
                     /db_xref="HGNC:HGNC:23697"
                     /db_xref="MIM:612834"
ORIGIN      
        1 mdalnrnqig pgcqtqtmvq kgpldlietg kglkvqtdkp hlvslgsgrl staitllple
       61 egrtvigsaa rdislqgpgl apehcyienl rgtltlypcg nactidglpv rqptrltqgc
      121 mlclgqstfl rfnhpaeakw mksmipaggr apgppyspvp aeseslvngn htpqtatrgp
      181 sacashsslv ssiekdlqei mdslvleepg aagkkpaats plspmanggr yllspptspg
      241 amsvgssyen tspafsplss passgscash spsgqepgps vpplvparss syhlalqppq
      301 srpsgarses prlsrkgghe rppspglrgl ltdspaatvl aearratesp rlggqlpvva
      361 islseypasg alsqptsipg spkfqppvpa prnkigtlqd rppspfrepp gservlttsp
      421 srqlvgrtfs dglatrtlqp pesprlgrrg ldsmrelppl spslsrrals plptrttpdp
      481 klnrevaesp rprrwaahga spedfsltlg argrrtrsps ptlgeslaph kgsfsgrlsp
      541 ayslgsltga spcqspcvqr klssgdlrvp vtrerknsit eisdneddll eyhrrqrqer
      601 lreqemerle rqrletilnl caeysradgg peagelpsig eataalalag rrpsrglaga
      661 sgrsseepgv atqrlwesme rsdeenlkee csstestqqe hedapstklq gevlaleeer
      721 aqvlghveql kvrvkeleqq lqesareaem erallqgere aerallqkeq kavdqlqekl
      781 valetgiqke rdkeraelaa grrhlearqa lyaelqtqld ncpesvreql qeqlrreaea
      841 letetklfed lefqqleres rveeerelag qgllrskael lrsiakrker laildsqagq
      901 iraqavqese rlardknasl qllqkekekl tvlerryhsl tggrpfpktt stlkeaelli
      961 sessemglgt kalglfpgss qagassvslt ppastllcpk aqeyvmleql kvmrgtspmp
     1021 papvpglspw asasrdlvpt tclppmlpss sfasitpspk meklllpavd leqwyqelma
     1081 glgtgpaaas phssppplpa kasrqlqvyr skmdgeatsp lprtrsgplp sssgssssss
     1141 qlsvatlgrs pspksalltq ngtgslprnl aatlqdietk rqlalqqkve slpaeplptd
     1201 dpagqqviee qrrrlaelkq kaaaeaqcqw dalhgaapfp agpsgfpplm hhsilhhlpa
     1261 grergeegeh aydtlsless dsmetsistg gnsacspdnm ssasgldmgk ieemekmlke
     1321 ahaeknrlme sreremelrr qaleeerrrr eqverrlqse sarrqqlvek evkmrekqfs
     1381 qarpltrylp irkedfdlkt hiessghgvd tclhvvlssk vcrgylvkmg gkikswkkrw
     1441 fvfdrlkrtl syyvdkhetk lkgviyfqai eevyydhlrs aakkrffrft mvtespnpal
     1501 tfcvkthdrl yymvapsaea mriwmdvivt gaegytqfmn
//
LOCUS       XP_054225257             816 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 6 regulatory subunit 3 isoform
            X12 [Homo sapiens].
ACCESSION   XP_054225257
VERSION     XP_054225257.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369282.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..816
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..816
                     /product="serine/threonine-protein phosphatase 6
                     regulatory subunit 3 isoform X12"
                     /calculated_mol_wt=91334
     CDS             1..816
                     /gene="PPP6R3"
                     /gene_synonym="C11orf23; PP6R3; SAP190; SAPL; SAPLa;
                     SAPS3"
                     /coded_by="XM_054369282.1:361..2811"
                     /db_xref="GeneID:55291"
                     /db_xref="HGNC:HGNC:1173"
                     /db_xref="MIM:610879"
ORIGIN      
        1 mfwkfdlhss shidtllere dvtlkelmde edvlqeckaq nrkliefllk aecledlvsf
       61 iieeppqdmd ekirykypni scelltsdvs qmndrlgede sllmklysfl lndsplnpll
      121 asffskvlsi lisrkpeqiv dflkkkhdfv dliikhigts aimdlllrll tcieppqprq
      181 dvlnwlneek iiqrlveivh psqeedrhsn asqslceivr lsrdqmlqiq nstepdplla
      241 tlekqeiieq llsnifhkek nesaivsaiq illtlletrr ptfeghieic ppgmshsacs
      301 vnksvleair grlgsfhell leppknmffk ytwnnflhtq veicialila spfentenat
      361 itdqdstgdn lllkhlfqkc qlierileaw emnekkqaeg grrhgymghl triancivhs
      421 tdkgpnsalv qqlikdlpde vrerwetfct sslgetnkrn tvdlvttchi hsssddeidf
      481 ketgfsqdss lqqmqqmtsn fidqfgfnde kfadqddign vsfdrvsdin ftlntnesgn
      541 ialfeaccke riqqfddggs deediweekh iaftpesqrr sssgstdsee stdseeedga
      601 kqdlfepssa ntedkmevdl seppnwsanf dvpmetthga pldsvgsdvw steepmptke
      661 tgwasfseft sslstkdslr snspvemets tepmdpltps aaalavqpea agsvameass
      721 dgeedaestd kvtetvmngg mketlsltvd aktetavfks eegklstsqd aackdaeecp
      781 etaeakcaap rppssspeqr tgqpsapgdt svngpv
//
LOCUS       XP_054225315             316 aa            linear   PRI 20-MAR-2023
DEFINITION  FAD-dependent oxidoreductase domain-containing protein 1 isoform X3
            [Homo sapiens].
ACCESSION   XP_054225315
VERSION     XP_054225315.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369340.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 18% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..316
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..316
                     /product="FAD-dependent oxidoreductase domain-containing
                     protein 1 isoform X3"
                     /calculated_mol_wt=35090
     CDS             1..316
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /coded_by="XM_054369340.1:909..1859"
                     /db_xref="GeneID:55572"
                     /db_xref="HGNC:HGNC:26927"
                     /db_xref="MIM:613622"
ORIGIN      
        1 mesnvkvqrq egakvslmsp dqlrnkfpwi ntegvalasy gmedegwfdp wcllqglrrk
       61 vqslgvlfcq gevtrfvsss qrmlttddka vvlkrihevh vkmdrsleyq pvecaivina
      121 agawsaqiaa lagvgegppg tlqgtklpve prkryvyvwh cpqgpgletp lvadtsgayf
      181 rreglgsnyl ggrspteqee pdpanlevdh dffqdkvwph lalrvpafet lkvqsawagy
      241 ydyntfdqng vvgphplvvn myfatgfsgh glqqapgigr avaemvlkgr fqtidlspfl
      301 ftrfylgeki qennii
//
LOCUS       XP_054225388            1217 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA2-interacting transcriptional repressor EMSY isoform X27 [Homo
            sapiens].
ACCESSION   XP_054225388
VERSION     XP_054225388.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369413.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1217
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1217
                     /product="BRCA2-interacting transcriptional repressor EMSY
                     isoform X27"
                     /calculated_mol_wt=130170
     CDS             1..1217
                     /gene="EMSY"
                     /gene_synonym="C11orf30; GL002"
                     /coded_by="XM_054369413.1:151..3804"
                     /db_xref="GeneID:56946"
                     /db_xref="HGNC:HGNC:18071"
                     /db_xref="MIM:608574"
ORIGIN      
        1 mpvvwptlld lsrdeckril rkleleayag visalraqgd ltkekkdllg elskvlsist
       61 erhraevrra vnderlttia hnmsgpnsss ewsiegrrlv plmprlvpqt aftvtanava
      121 naaiqhnasl pvpaetgske gvscsdedek prkrrrtnss ssspvvlkev pkavvpvskt
      181 itvpvsgspk msnimqsian slpphmspvk itftkpstqt tntttqkvii vttspsstfv
      241 pnilskshny aavtklvpts viasttqkpp vvitasqssl vsnsssgsss stpspipntv
      301 avtavvsstp svvmstvaqg vstsaikmas trlpspkslv saptqilaqf pkqhqqspkq
      361 qlyqvqqqtq qqvaqpspvs hqqqpqqspl ppgikptiqi kqesgvkiit qqvqpskilp
      421 kpvtatlpts snspimvvss ngaimttklv ttptgtqaty trptvspsig rmaatpgaat
      481 yvkttsgsii tvvpkslatl ggkiissniv sgtttkitti pmtskpnviv vqkttgkgtt
      541 iqglpgknvv ttllnaggek tiqtvptgak pailtatrpi tkmivtqpkg igstvqpaak
      601 iiptkivygq qgktqvlikp kpvtfqatvv seqtrqlvte tlqqasrvae agnssiqegk
      661 eepqnytdss ssstessqss qvkekleskp rqptidlsqm avpiqmtqek rhspespsia
      721 vveselvaey ittertdegt evafpllvsh rsqpqqpsqp qrtllqhvaq sqtatqtsvv
      781 vksipasspg aithimqqal sshtaftkhs eelgteegev eemdtldpqt glfyrsaltq
      841 sqsakqqkls qppleqtqlq vktlqcfqtk qkqtihlqad qlqhklpqmp qlsirhqklt
      901 plqqeqaqpk pdvqhtqhpm vakdrqlptl maqppqtvvq vlavkttqql pklqqapnqp
      961 kiyvqpqtpq sqmslpasse kqtasqveqp iitqgssvtk itfegrqppt vtkitggssv
     1021 pkltspvtsi spiqasekta vsdilkmslm eaqidtnveh mivdppkkal atsmltgeag
     1081 slpsthmvva gmanstpqqq kcrescssps tvgsslttrk idppavpatg qfmriqnvgq
     1141 kkaeespaei iiqaipqyai pchsssnvvv epsgllelnn ftsqqlddee tameqdidss
     1201 tedgtepsps qssaers
//
LOCUS       XP_054227248            1132 aa            linear   PRI 20-MAR-2023
DEFINITION  DENN domain-containing protein 5B isoform X13 [Homo sapiens].
ACCESSION   XP_054227248
VERSION     XP_054227248.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371273.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1132
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1132
                     /product="DENN domain-containing protein 5B isoform X13"
                     /calculated_mol_wt=129146
     CDS             1..1132
                     /gene="DENND5B"
                     /coded_by="XM_054371273.1:95..3493"
                     /db_xref="GeneID:160518"
                     /db_xref="HGNC:HGNC:28338"
                     /db_xref="MIM:617279"
ORIGIN      
        1 mgthhhaqli fvflvemrfh hvdqaglell tssnspasas rsaeitvvsq haqpgflyqw
       61 leadrhgksq gaanttsgen fdqsplkrtf kskvlahypq niewnpfdqd avnmlcmpkg
      121 lsfrtqtdnk dpqfhsfiit redgsrtygf vltfyeevtn yqrlmtvaeg ittllfpfqw
      181 qhvyvpilpa sllhfldapv pylmglqske gtdrsklelp qeanlcfvdi dnhfielpee
      241 fpqfpnkvdf iqelsevlvq fgippegslh csestsklkn mvlkdlvndk kngnvctnni
      301 smyellkgne tiarlqalak rtgvavekmd lsaslgekdk dlklhceeae lrdyqlnvql
      361 revfanrftq mfadyeafvi qtaqdmeswl tnreqmqnfd kasflsdqpe pylpflsrfi
      421 etqmfatfid nkimsqweek dpllrvfdtr idkirlynvr aptlrtsiyq kcstlkeaaq
      481 sieqrlmkmd htaihphlld mkigqgkyeq gffpklqsdv latgptsnnr wvsrsataqr
      541 rkerlrqhse hvgldndlre kymqearslg knlrqpklsd lspaviaqtn ckfvegllke
      601 crmktkrmlv ekmgheavel ghgeanitgl eentliaslc dlleriwshg lqvkqgksal
      661 wshliqfqdr eekqehlaes pvalgperrk sdsgvmlptl rvsliqdmrh iqnmseiktd
      721 vgrarawirl slekkllsqh lkqllsnqpl tkklykryaf lrceeereqf lyhllslnav
      781 dyfcftsvft timipyrsvi ipikklsnai itsnpwicvs gelgdtgvmq ipknllemtf
      841 ecqnlgkltt vqighdnsgl lakwlvdcvm vrneitghty rfpcgrwlgk giddgsleri
      901 ligelmtsas dedlvkqcrt ppqqksptta rrlsitsltg knnkpnagqi qegigeavnn
      961 ivkhfhkpek ergsltvllc genglvaale qvfhhgfksa rifhknvfiw dfiekvvayf
     1021 ettdqildne ddvliqkssc ktfchyvnai ntaprnigkd gkfqilvclg trdrllpqwi
     1081 pllaecpait rmyeesallr drmtvnslir ilqtiqdfti vlegslikgv dv
//
LOCUS       XP_054230228             893 aa            linear   PRI 20-MAR-2023
DEFINITION  cilium assembly protein DZIP1 isoform X7 [Homo sapiens].
ACCESSION   XP_054230228
VERSION     XP_054230228.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374253.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..893
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..893
                     /product="cilium assembly protein DZIP1 isoform X7"
                     /calculated_mol_wt=100923
     CDS             1..893
                     /gene="DZIP1"
                     /gene_synonym="DZIP; DZIPt1; MVP3; SPGF47"
                     /coded_by="XM_054374253.1:856..3537"
                     /db_xref="GeneID:22873"
                     /db_xref="HGNC:HGNC:20908"
                     /db_xref="MIM:608671"
ORIGIN      
        1 mqaeaadwfs smvrggrpgr prrgcragen rgfpgppapq parppspppa alslcppqpf
       61 qkhvyyplas gpegpdvava aaaagaasma cappsaasgp lpffqfrprl esvdwrrlsa
      121 idvdkvagav dvltlqenim nitfcklede kcphcqsgvd pvllklirla qftieyllhs
      181 qefltsqlht leerlrlshc dgeqskkllt kqageiktlk eeckrrkkmi stqqlmieak
      241 anyyqchfcd kafmnqaflq shiqrrhtee nshfeyqkna qieklrseiv vlkeelqltr
      301 seleaahhas avrfskeyem qktkeedflk lfdrwkeeek eklvdemekv kemfmkefke
      361 ltsknsaley qlseiqksnm qiksnigtlk dahefkedrs pypqdfhnvm qlldsqeskw
      421 tarvqaihqe hkkekgrlls hieklrtsmi ddlnasnvfy kkrieelgqr lqeqneliit
      481 qrqqikdftc nplnsisepk gnplawqafe sqpaapavpm napalhtlet ksslpmvhgr
      541 eneqklnnnk mhlrkalksn ssltkglrtm veqnlmekle tlginadirg issdqlhrvl
      601 ksveserhkq ereipnfhqi reflehqvsc kieekallss dqcsvsqmdt lstgevpkmi
      661 qlpsknrqli rqkavstdrt svpkikknvm edpfprksst ittppfssee eqedddlira
      721 yaspgplpvp ppqnkgsfgk ntvksdadgt egseiedtdd spkpagvavk tptekvekmf
      781 phrknvnkpv ggtnvpemfi kkeelqelkc advededwdi ssleeeislg kksgkeqkep
      841 ppaknephfa hvlnawgafn pkgpkgeglq enesstlkss lvtvtdwsdt sdv
//
LOCUS       XP_054230235             862 aa            linear   PRI 20-MAR-2023
DEFINITION  cilium assembly protein DZIP1 isoform X13 [Homo sapiens].
ACCESSION   XP_054230235
VERSION     XP_054230235.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374260.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..862
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..862
                     /product="cilium assembly protein DZIP1 isoform X13"
                     /calculated_mol_wt=98003
     CDS             1..862
                     /gene="DZIP1"
                     /gene_synonym="DZIP; DZIPt1; MVP3; SPGF47"
                     /coded_by="XM_054374260.1:856..3444"
                     /db_xref="GeneID:22873"
                     /db_xref="HGNC:HGNC:20908"
                     /db_xref="MIM:608671"
ORIGIN      
        1 mqaeaadwfs smpfqkhvyy plasgpegpd vavaaaaaga asmacappsa asgplpffqf
       61 rprlesvdwr rlsaidvdkv agavdvltlq enimnitfck ledekcphcq sgvdpvllkl
      121 irlaqftiey llhsqeflts qlhtleerlr lshcdgeqsk klltkqagei ktlkeeckrr
      181 kkmistqqlm ieakanyyqc hfcdkafmnq aflqshiqrr hteenshfey qknaqieklr
      241 seivvlkeel qltrseleaa hhasavrfsk eyemqktkee dflklfdrwk eeekeklvde
      301 mekvkemfmk efkeltskns aleyqlseiq ksnmqiksni gtlkdahefk edrspypqdf
      361 hnvmqlldsq eskwtarvqa ihqehkkekg rllshieklr tsmiddlnas nvfykkriee
      421 lgqrlqeqne liitqrqqik dftcnplnsi sepkgnplaw qafesqpaap avpmnapalh
      481 tletksslpm vheqafsshi lepieelsee ekgreneqkl nnnkmhlrka lksnssltkg
      541 lrtmveqnlm ekletlgina dirgissdql hrvlksvese rhkqereipn fhqirefleh
      601 qvsckieeka llssdqcsvs qmdtlstgev pkmiqlpskn rqlirqkavs tdrtsvpkik
      661 knvmedpfpr ksstitseee qedddliray aspgplpvpp pqnkgsfgkn tvksdadgte
      721 gseiedtdds pkpagvavkt ptekvekmfp hrknvnkpvg gtnvpemfik keelqelkca
      781 dvededwdis sleeeislgk ksgkeqkepp paknephfah vlnawgafnp kgpkgeglqe
      841 nesstlkssl vtvtdwsdts dv
//
LOCUS       XP_054231107             658 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 7 isoform X15 [Homo
            sapiens].
ACCESSION   XP_054231107
VERSION     XP_054231107.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375132.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..658
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..658
                     /product="rho guanine nucleotide exchange factor 7 isoform
                     X15"
                     /calculated_mol_wt=74366
     CDS             1..658
                     /gene="ARHGEF7"
                     /gene_synonym="BETA-PIX; COOL-1; COOL1; Nbla10314; P50;
                     P50BP; P85; P85COOL1; P85SPR; PAK3; PIXB"
                     /coded_by="XM_054375132.1:388..2364"
                     /db_xref="GeneID:8874"
                     /db_xref="HGNC:HGNC:15607"
                     /db_xref="MIM:605477"
ORIGIN      
        1 mtdnsnnqlv vrakfnfqqt nedelsfskg dvihvtrvee ggwwegtlng rtgwfpsnyv
       61 revkasekpv spksgtlksp pkgfdttain ksyynvvlqn ileteneysk elqtvlstyl
      121 rplqtsekls sanisylmgn leeicsfqqm lvqsleectk lpeaqqrvgg cflnlmpqmk
      181 tlyltycanh psavnvlteh seelgefmet kgasspgilv lttglskpfm rldkyptllk
      241 elerhmedyh tdrqdiqksm aafknlsaqc qevrkrkele lqilteairn wegddiktlg
      301 nvtymsqvli qcagseekne rylllfpnvl lmlsasprms gfiyqgklpt tgmtitkled
      361 senhrnafei sgsmierilv scnnqqdlqe wvehlqkqtk vtsvgnptik phsvpshtlp
      421 shpvtpsskh adskpapltp ayhtlphpsh hgtphttinw gpleppktpk pwslsclrpa
      481 pplrpsaalc ykevrsldhs nsqmtdlsks pktmkkllpk rkperkpsde efasrkstaa
      541 leedaqilkv ieayctsakt rqtlnsssrk esapqvllpe eekiiveetk sngqtvieek
      601 slvdtvyalk devqelrqdn kkmkksleee qrarkdlekl vrkvlknmnd pawdetnl
//
LOCUS       XP_054231475             343 aa            linear   PRI 20-MAR-2023
DEFINITION  GTP-binding protein REM 2 isoform X4 [Homo sapiens].
ACCESSION   XP_054231475
VERSION     XP_054231475.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375500.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..343
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..343
                     /product="GTP-binding protein REM 2 isoform X4"
                     /calculated_mol_wt=36861
     CDS             1..343
                     /gene="REM2"
                     /coded_by="XM_054375500.1:1067..2098"
                     /db_xref="GeneID:161253"
                     /db_xref="HGNC:HGNC:20248"
                     /db_xref="MIM:616955"
ORIGIN      
        1 mstpvqasgd fsvrgqarhs qfllgnghqv gvagplileq pglsllhmve hipliasfsl
       61 pshfileada tllkksekll aeldrsglps apgaprrrgs mpvpykhqlr raqavdeldw
      121 ppqasssgss dslgsgeaap aqkdgifkvm lvgesgvgks tlagtfgglq gdsahepenp
      181 ggcrrvaagp lpsdrgrlsh rllshrptef lqssrdptsa pgweaaprpt ryprwkqerl
      241 gplpgegrhl agtlsckhie tsaalhhntr elfegavrqi rlrrgrnhag gqrpdpgspe
      301 gpapparres ltkkakrfla nlvprnakff kqrsrschdl svl
//
LOCUS       XP_054233169            1863 aa            linear   PRI 20-MAR-2023
DEFINITION  C-myc promoter-binding protein isoform X6 [Homo sapiens].
ACCESSION   XP_054233169
VERSION     XP_054233169.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377194.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1863
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1863
                     /product="C-myc promoter-binding protein isoform X6"
                     /calculated_mol_wt=209114
     CDS             1..1863
                     /gene="DENND4A"
                     /gene_synonym="IRLB; MYCPBP"
                     /coded_by="XM_054377194.1:442..6033"
                     /db_xref="GeneID:10260"
                     /db_xref="HGNC:HGNC:24321"
                     /db_xref="MIM:600382"
ORIGIN      
        1 miedkgprva dyfvvagltd vskpleeeih fndachkvak pkepitdvsv iikslgeevp
       61 qdyicidvtp tglsadlnng slvgpqiylc yrrgrdkppl tdlgvlydwk erlkqgceii
      121 qstpygrpan isgstssqri yityrrasen mtqntlavtd iciiipskge spphtfckvd
      181 knlnnsmwgs avylcykksv aktntvsyka glicrypqed yesfslpesv plfclpmgat
      241 iecwpsnsky plpvfstfvl tgasaekvyg aaiqfyepys eenltekqrl llgltsadgk
      301 sdssktihtn kcicllshwp ffdafrkflt flyrysisgp hvlpiekhis hfmhkvpfps
      361 pqrprilvql sphdnlilsq pvssplplsg gkfstllqnl gpenavtllv favtehkili
      421 hslrpsvlts vtealvsmif pfhwpcpyvp lcplaladvl sapcpfivgi dsryfdlydp
      481 ppdvscvdvd tntisqigdk knvawkilpk kpcknlmntl nnlhqqlakl qqrprddglm
      541 dlaindydfn sgkrlhmidl eiqeaflffm asilkgyrsy lrpitqapse tatdaaslfa
      601 lqaflrsrdr shqkfynmmt ktqmfirfie ecsfvsdkda slaffddcvd kvdmdksgev
      661 rlieldesfk sehtvfvtpp eiphlpngee pplqysyngf pvlrnnlfer pegflqakkn
      721 klpskssspn splpmfrrtk qeiksahkia kryssipqmw srcllrhcyg lwficlpayv
      781 kvchskvral ktaydvlkkm qskkmdppde vcyrilmqlc gqydqpvlav rvlfemqkag
      841 idpnaitygy ynkavlestw psrsrsgyfl wtkvrnvvlg vtqfkralkk hahlsqttls
      901 ggqsdlgyns lskdevrrgd tstediqeek dkkgsdcssl sesestkgsa dclpklsyqn
      961 sssivrltgt snnsagkisg esmestpell lissledtne trniqsrcfr krhksdnetn
     1021 lqqqvvwgnr nrnlsggvlm gfmlnrinqe atpgdivekl gadakilsnv iskstrpntl
     1081 digkpplrsk rdslekessd ddtpfdgsny ladkvdspvi fdledldset dvskagcvat
     1141 qnpkriqrmn ssfsvkpfek tdvatgfdpl sllvaeteqq qkeeeeeded dsksistpsa
     1201 rrdlaeeivm ymnnmssplt srtpsidlqr acddklnkks pplvkacrrs slppnspkpv
     1261 rltksksytk seekprdrlw sspafsptcp freesqdtlt hsspsfnldt llvpkldvlr
     1321 nsmftagkgv aekaskwysr ftmyttsskd qssdrtslss vgaqdsests ltdedvchel
     1381 egpissqets atsgtkridl srislessas legslskfal pgksevtssf nasntnifqn
     1441 yamevlissc srcrtcdclv hdeeimagwt addsnlnttc pfcgniflpf lnieirdlrr
     1501 pgryflkssp stenmhfpss issqtrqsci stsasgldts alsvqgnfdl nsksklqenf
     1561 ctrsiqipan rsktamskcp ifpmarsist sgpldkedtg rqklistgsl patlqgatds
     1621 lglewhlpsp dpvtvpylsp lvvwkelesl lenegdhait vadfvdhhpi vfwnlvwyfr
     1681 rldlpsnlpg lilssehcnk yskiprhcms edskyvliqm lwdnmklhqd pgqplyilwn
     1741 ahtqkypmvh llqksdnsfn qellksmvks ikmndvygpm sqiletlnkc phfkrqrsly
     1801 reilflslva lgrenidida fdkeykmayd rltpsqvkst hncdrppstg vmecrktfge
     1861 pyl
//
LOCUS       XP_054233847             176 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-expressed protein 9 isoform X5 [Homo sapiens].
ACCESSION   XP_054233847
VERSION     XP_054233847.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377872.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..176
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..176
                     /product="testis-expressed protein 9 isoform X5"
                     /calculated_mol_wt=19981
     CDS             1..176
                     /gene="TEX9"
                     /coded_by="XM_054377872.1:26..556"
                     /db_xref="GeneID:374618"
                     /db_xref="HGNC:HGNC:29585"
ORIGIN      
        1 magrslcltr ssvpgtpfpp pvqqpstpgp dllaleeeyk rlnaelqakt advvqqakei
       61 ielenkrrlq kqaassqsat evrlnralee aekyklelsk lrqnnkdian eehkkievlk
      121 senkklekqk gelmigfkkq lklidvlkrq kmhieaakml sfteeefmka lewgns
//
LOCUS       XP_054234548            1294 aa            linear   PRI 20-MAR-2023
DEFINITION  ras-specific guanine nucleotide-releasing factor 1 isoform X8 [Homo
            sapiens].
ACCESSION   XP_054234548
VERSION     XP_054234548.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378573.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1294
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1294
                     /product="ras-specific guanine nucleotide-releasing factor
                     1 isoform X8"
                     /calculated_mol_wt=146065
     CDS             1..1294
                     /gene="RASGRF1"
                     /gene_synonym="CDC25; CDC25L; GNRP; GRF1; GRF55; H-GRF55;
                     PP13187; ras-GRF1"
                     /coded_by="XM_054378573.1:283..4167"
                     /db_xref="GeneID:5923"
                     /db_xref="HGNC:HGNC:9875"
                     /db_xref="MIM:606600"
ORIGIN      
        1 mqkgirlndg hvaslgllar kdgtrkgyls krssdntkwq tkwfallqnl lfyfesdsss
       61 rpsglylleg cvcdrapspk palsakeple kqhyftvnfs henqkalelr tedakdcdew
      121 vaaiahasyr tlatehealm qkylhllqiv etektvakql rqqiedgeie ierlkaeits
      181 llkdneriqs tqtvapnded sdikkikkvq sflrgwlcrr kwktiiqdyi rsphadsmrk
      241 rnqvvfsmle aeaeyvqqlh ilvnnflrpl rmaasskkpp ithddvssif lnsetimflh
      301 qifyqglkar isswptlvla dlfdillpml niyqefvrnh qyslqilahc kqnrdfdkll
      361 khyeakpdce ertletflty pmfqipryil tlhellahtp hehvernsld yakskleels
      421 rimhdevset enirknlaie rmiiegceil ldtsqtfvrq gsliqvpmse kgkitrgrlg
      481 slslkkeger qcflfskhli ictrgsggkl hltkngvisl idctlleepe steeeakgsg
      541 qdidhldfki gvepkdsppf tvilvassrq ekaawtsdis qcvdnircng lmmnafeens
      601 kvtvpqmikr tregtreaem srsdaslycd dvdirfsktm nsckvlqiry asverllerl
      661 tdlrflsidf lntflhsyrv fttaivvldk litiykkpis aiparslell fasgqnnkll
      721 ygeppkspra trkfsspppl sitktsspsr rrklslnipi itggkaldla alscnsngyt
      781 smysamspfs katldtskly vsssftnkip degdttpekp edpsalskqs sevsmreesd
      841 idqnqsddgd tetsptkspt tpksvknkns sefplfsynn gvvmtscrel dnnrsalsaa
      901 safaiataga negtpnkeky rrmslasagf ppdqrngdke fvirraatnr vlnvlrhwvs
      961 khsqdfetnd elkckvigfl eevmhdpell tqerkaaani irtltqedpg dnqitleeit
     1021 qmaegvkaep fenhsaleia eqltlldhlv fkkipyeeff gqgwmklekn ertpyimktt
     1081 khfndisnli aseiirnedi narvsaiekw vavadicrcl hnynavleit ssmnrsaifr
     1141 lkktwlkvsk qtkalidklq klvssegrfk nlrealkkqm lhpsvlssrl ssawapespc
     1201 glclwgaaps vhsptcpsvr prgttpstss hgwlprlppp pplpplplgp pfclsphpdr
     1261 lpsfrwpvgp ckclshipll paaqgrgglr asgs
//
LOCUS       XP_054235098             433 aa            linear   PRI 20-MAR-2023
DEFINITION  SH2 domain-containing adapter protein F isoform X1 [Homo sapiens].
ACCESSION   XP_054235098
VERSION     XP_054235098.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379123.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..433
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..433
                     /product="SH2 domain-containing adapter protein F isoform
                     X1"
                     /calculated_mol_wt=45230
     CDS             1..433
                     /gene="SHF"
                     /coded_by="XM_054379123.1:16..1317"
                     /db_xref="GeneID:90525"
                     /db_xref="HGNC:HGNC:25116"
                     /db_xref="MIM:617313"
ORIGIN      
        1 mllsgappag srpgprtqgs agggpggsrr gaggagagpg gggsggvakw lrehlgfrgg
       61 ggggggskpa ppepdyrppa pspaappapp pdilaayrlq rerdfedpys ggssgsaala
      121 tpvapgptpp prhgspphrl irvetpgppa ppaderisgp passdrlail edyadpfdvq
      181 etgegsagas gapekvpend gymepyeaqk mmaeirgske tatqplplyd tpyepeedga
      241 tpegegapwp resrlpedde rppeeydqpw ewkkeriska favdikvikd lpwpppvgql
      301 dsspslpdgd rdisgpaspl pepsledssa qfegpekscl spgreekgrl pprlsagnpk
      361 sakplsmeps splgewtdpa lplenqvwyh gaisrtdaen llrlckeasy lvrnsetskn
      421 dfslslncht lgv
//
LOCUS       XP_054235210             343 aa            linear   PRI 20-MAR-2023
DEFINITION  homer protein homolog 2 isoform X7 [Homo sapiens].
ACCESSION   XP_054235210
VERSION     XP_054235210.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379235.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..343
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..343
                     /product="homer protein homolog 2 isoform X7"
                     /calculated_mol_wt=39336
     CDS             1..343
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /coded_by="XM_054379235.1:186..1217"
                     /db_xref="GeneID:9455"
                     /db_xref="HGNC:HGNC:17513"
                     /db_xref="MIM:604799"
ORIGIN      
        1 mgeqpifttr ahvfqidpnt kknwmpaskq avtvsyfydv trnsyriisv dgakviinst
       61 itpnmtftkt sqkfgqwads rantvfglgf sseqqltkfa ekfqevkeaa kiakdktqek
      121 ietssnhsqa ssvngtddek ashagpanth lksendklki altqsaanvk kweielqtlr
      181 esnarlttal qesaasveqw krqfsicrde ndrlrnkide leeqcseinr ekekntqlkr
      241 rieeleaelr eketelkdlr kqseiipqlm seceyvsekl eaaerdnqnl edkvrslktd
      301 ieeskyrqrh lkvelksfle vldgkiddlh dfrrglsklg tdn
//
LOCUS       XP_054235449            1018 aa            linear   PRI 20-MAR-2023
DEFINITION  ataxin-2-like protein isoform X42 [Homo sapiens].
ACCESSION   XP_054235449
VERSION     XP_054235449.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379474.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1018
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1018
                     /product="ataxin-2-like protein isoform X42"
                     /calculated_mol_wt=108683
     CDS             1..1018
                     /gene="ATXN2L"
                     /gene_synonym="A2D; A2LG; A2LP; A2RP"
                     /coded_by="XM_054379474.1:245..3301"
                     /db_xref="GeneID:11273"
                     /db_xref="HGNC:HGNC:31326"
                     /db_xref="MIM:607931"
ORIGIN      
        1 melrvaahag avgsdrwrwg vrkvpwvlvr rrrpgeasrw mafaaalsps pasgplfaln
       61 rrlhqpatsr vtwrlvipae gqstgkgppq spvfegvynn srmlhfltav vgstcdvkvk
      121 ngttyegifk tlsskfelav davhrkasep aggprrediv dtmvfkpsdv mlvhfrnvdf
      181 nyatkdkftd saiamnskvn gehkekvlqr weggdsnsdd ydlesdmsng wdpnemfkfn
      241 eenygvktty dsslssytvp lekdnseefr qrelraaqla reiesspqyr lriamenddg
      301 rteeekhsav qrqgsgresp slasregkyi plpqrvregp rggvrcsssr ggrpglsslp
      361 prgphhldns spgpgsearg inggpsrmsp kaqrplrgak tlsspsnrps getsvppppa
      421 vgrmypprsp ksaapapisa scpeppigsa vptssasipv tssvsdpgvg sispaspkis
      481 laptdvkels tkepgrtlep qelariagkv pglqneqkrf qleelrkfga qfklqpsssp
      541 ensldpfppr ilkeepkgke kevdglltse pmgspvsskt esvsdkedkp plapsggteg
      601 peqppppcps qtgsppvgli kgedkdegpv aeqvkkstln pnakefnptk pllsvnksts
      661 tptspgprth stpsipvlta gqsglyspqy isyipqihmg pavqapqmyp ypvsnsvpgq
      721 qgkyrgakgs lppqrsdqhq pasappmmqa aaaagpplva atpyssyipy npqqfpgqpa
      781 mmqpmahyps qpvfapmlqs nprmltsgsh pqaivssstp qypsaeqptp qalyatvhqs
      841 yphhatqlha hqpqpattpt gsqpqsqhaa pspvqhqagq aphlgsgqpq qnlyhpgalt
      901 gtppslppgp saqspqssfp qpaavyaihh qqlphgftnm ahvtqahvqt gitaappphp
      961 gaphppqvml lhppqshggp pqgavpqsgv palsastpsp ypyighpqal sdpdcllt
//
LOCUS       XP_054236149             615 aa            linear   PRI 20-MAR-2023
DEFINITION  bromodomain-containing protein 7 isoform X6 [Homo sapiens].
ACCESSION   XP_054236149
VERSION     XP_054236149.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380174.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..615
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..615
                     /product="bromodomain-containing protein 7 isoform X6"
                     /calculated_mol_wt=70047
     CDS             1..615
                     /gene="BRD7"
                     /gene_synonym="BP75; CELTIX1; NAG4; SMARCI1"
                     /coded_by="XM_054380174.1:213..2060"
                     /db_xref="GeneID:29117"
                     /db_xref="HGNC:HGNC:14310"
                     /db_xref="MIM:618489"
ORIGIN      
        1 mgkkhkkhks dkhlyeeyve kplklvlkvg gnevtelstg ssghdsslfe dkndhdkhkd
       61 rkrkkrkkge kqipgeekgr krrrvkedkk krdrdrvene aekdlqchap vrldlppekp
      121 ltsslakqee veqtplqeal nqlmrqlqrk dpsaffsfpv tdfiapgysm iikhpmdfst
      181 mkekiknndy qsieelkdnf klmctnamiy nkpetiyyka akkllhsgmk ilsqeriqsl
      241 kqsidfmadl qktrkqkdgt dtsqsgedgg cwqreredsg daeahafksp skenkkkdkd
      301 mledkfksnn lereqeqldr ivkesggklt rrlvnsqcef errkpdgttt lgllhpvdpi
      361 vgvlylnygp yssyaphyds tfaniskdds dliystyged sdlpsdfsih eflatcqdyp
      421 yvmadslldv ltkgghsrtl qememslped eghtrtldta kemeitevep pgrldsstqd
      481 rlialkavtn fgvpvevfds eeaeifqkkl dettrllrel qeaqnerlst rpppnmicll
      541 gpsyremhla eqvtnnlkel aqqvtpgdiv stygvrkamg isipspvmen nfvdltedte
      601 epkktdvaec gpggs
//
LOCUS       XP_054170082             906 aa            linear   PRI 20-MAR-2023
DEFINITION  lon protease homolog 2, peroxisomal isoform X3 [Homo sapiens].
ACCESSION   XP_054170082
VERSION     XP_054170082.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314107.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..906
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..906
                     /product="lon protease homolog 2, peroxisomal isoform X3"
                     /calculated_mol_wt=100801
     CDS             1..906
                     /gene="LONP2"
                     /gene_synonym="LONP; LONPL; PLON; PSLON"
                     /coded_by="XM_054314107.1:90..2810"
                     /db_xref="GeneID:83752"
                     /db_xref="HGNC:HGNC:20598"
                     /db_xref="MIM:617774"
ORIGIN      
        1 mssvspiqip srlplllthe gvllpgstmr tsvdsarnlq lvrsrllkgt slqstilgvi
       61 pntpdpasda qdlpplhrig taalavqvvg snwpkphytl litglcrfqi vqvlkekpyp
      121 iaeveqldrl eefpntckmr eelgelseqf ykyavqlvem ldmsvpavak lrrlldslpr
      181 ealpdiltsi irtsnkeklq ildavsleer fkmtipllvr qieglkllqk trkpkqdddk
      241 rviairpirr ithisgtled ededednddi vmlekkirts smpeqahkvc vkeikrlkkm
      301 pqsmpeyalt rnylelmvel pwnksttdrl diraarilld ndhyameklk krvleylavr
      361 qlknnlkgpi lcfvgppgvg ktsvgrsvak tlgrefhria lggvcdqsdi rghrrtyvgs
      421 mpgriinglk tvgvnnpvfl ldevdklgks lqgdpaaall evldpeqnhn ftdhylnvaf
      481 dlsqvlfiat anttatipaa lldrmeiiqv pgytqeekie iahrhlipkq leqhgltpqq
      541 iqipqvttld iitrytreag vrsldrklga icravavkva egqhkeakld rsdvteregc
      601 rehiledekp esisdttdla lppempilid fhalkdilgp pmyemevsqr lsqpgvaigl
      661 awtplggeim fveasrmdge gqltltgqlg dvmkesahla iswlrsnakk yqltnafgsf
      721 dlldntdihl hfpagavtkd gpsagvtivt claslfsgrl vrsdvamtge itlrglvlpv
      781 ggikdkvlaa hraglkqvii prrnekdleg ipgnvrqdls fvtascldev lnaafdggft
      841 vktrpgllns klgrkyqkgl nrqqanmlpp tervlgwqtd gclifcetev lntgqkmfdc
      901 hfntwk
//
LOCUS       XP_054171163             708 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphoinositide 3-kinase regulatory subunit 6 isoform X12 [Homo
            sapiens].
ACCESSION   XP_054171163
VERSION     XP_054171163.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315188.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..708
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..708
                     /product="phosphoinositide 3-kinase regulatory subunit 6
                     isoform X12"
                     /calculated_mol_wt=78906
     CDS             1..708
                     /gene="PIK3R6"
                     /gene_synonym="C17orf38; HsT41028; p84 PIKAP; p87(PIKAP);
                     p87PIKAP"
                     /coded_by="XM_054315188.1:241..2367"
                     /db_xref="GeneID:146850"
                     /db_xref="HGNC:HGNC:27101"
                     /db_xref="MIM:611462"
ORIGIN      
        1 messdveldl qrsvqavlre lstqapalqs nqgmwrwslh kkverdpgks pvlvrillre
       61 lekaesqdlr hviipllhtv myvltkatgi teelyqriya fctrlltlpt pyctvaldca
      121 irlktemavp gtlyqrmvia eqnltnelyp yqervflfvd pelvsasvcs allleieaaq
      181 aqqtpetcmr hvvshalqaa lgeachagal hrklqasprr tlehyfhavv aaleqmasea
      241 spsreghver leeiycsllg paagrcggdl vqerppsipl pspyitfhlw tgkelvlflr
      301 prsqlrlsad levldlqglr pdrelarvsv lstdsgierd lptgadelpa pgspemerag
      361 lqrkggikkr awpldflmpg swdgppglhr rtgrpsgdge mlpgvsrlht arvlvlgddr
      421 mlgrlaqayh rlrkretqkf cltprlslql yyipvlapep psldtsrtvd pfildvityy
      481 irmgtqpiyf qiytvkiffs dlsqdptedi flielkvkiq dskfpkdgfs prrrgvaegp
      541 gaelslcyqk allshrprev tvslratgli lkaipasdte vsgsshcplp aapvtdhtcl
      601 nvnvtevvks snlagksfst vtntfrtnni qiqsrdqrll tlsldkddqr tfrdvvrfev
      661 apcpepcsga qkskapwlnl hgqqeveaik akpkpllmpi ntfsgivq
//
LOCUS       XP_054173664             435 aa            linear   PRI 20-MAR-2023
DEFINITION  tumor protein p53-inducible protein 13 isoform X2 [Homo sapiens].
ACCESSION   XP_054173664
VERSION     XP_054173664.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317689.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..435
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..435
                     /product="tumor protein p53-inducible protein 13 isoform
                     X2"
                     /calculated_mol_wt=46149
     CDS             1..435
                     /gene="TP53I13"
                     /gene_synonym="DSCP1"
                     /coded_by="XM_054317689.1:838..2145"
                     /db_xref="GeneID:90313"
                     /db_xref="HGNC:HGNC:25102"
ORIGIN      
        1 magpaeeaga hcpeslwplp pqvsprvtyt rvspgqaedv tflyhpcahp wlklqlalla
       61 yacmanpslt pdfsltqdrp lvltawglal emawvepawa ahwlmrrrrr kqrkkkawiy
      121 ceslsgpaps eptpgrgrlc rrgcvqalal afalrswrpp gtevtsqgpr qpsssgakrr
      181 rlraalgpqp trsalrfpsa spgslkakqs magipgresn apsvptvsll pgapggnass
      241 rteaqvpngq gspggcvcss qaspapraaa ppraargptp rteeaawaam altfllvllt
      301 latlctrlhr nfrrgesiyw gptadsqdtv adavisisrr dnqgsersss lqvtqpvssr
      361 ddftllclel salgmvtapa dalgaahspa rlypslacrv pclpccapar glppfpcsis
      421 tlhasaslaa lphed
//
LOCUS       XP_047302732             323 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124905373 isoform X2 [Homo sapiens].
ACCESSION   XP_047302732
VERSION     XP_047302732.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047446776.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 34% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..323
                     /product="uncharacterized protein LOC124905373 isoform X2"
                     /calculated_mol_wt=34817
     Region          <98..262
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     CDS             1..323
                     /gene="LOC124905373"
                     /coded_by="XM_047446776.1:1..972"
                     /db_xref="GeneID:124905373"
ORIGIN      
        1 malhlsrvsr rrgwgpylrs lriqhrsspv qppakppede pdaegyewti avsfqladfa
       61 plhwlrlddp gfgvlstgpe rwevwghplw vsrfrgwapg srrgarslpa splgaqaraa
      121 acvpgkggaa srgdtpcsrq psrsplagrs vrapqrrvga gagwrggpgl gpvrppgwra
      181 grrtrrtagp grlsfgktla vpplvsvdpa vafsraadlc ppvapavleq kgppssrtep
      241 rapspmeqas agvprlrpgr ralwhlfppp rvpvrpgrdw lgnrgrkrsq sskesgqlfr
      301 gslqtpgqar khlygpslcp ttr
//
LOCUS       XP_054174629             270 aa            linear   PRI 20-MAR-2023
DEFINITION  Golli-MBP isoform X7 [Homo sapiens].
ACCESSION   XP_054174629
VERSION     XP_054174629.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318654.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..270
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..270
                     /product="Golli-MBP isoform X7"
                     /calculated_mol_wt=29849
     CDS             1..270
                     /gene="MBP"
                     /coded_by="XM_054318654.1:230..1042"
                     /db_xref="GeneID:4155"
                     /db_xref="HGNC:HGNC:6925"
                     /db_xref="MIM:159430"
ORIGIN      
        1 mgnhagkrel naekastnse tnrgesekkr nlgelsrtts ednevfgead anqnngtssq
       61 dtavtdskrt adpknawqda hpadpgsrph lirlfsrdap gredntfkdr psesdelqti
      121 qedsaatses ldvmasqkrp sqrhgskyla tastmdharh gflprhrdtg ildsigrffg
      181 gdrgapkrgs gkdshhpart ahygslpqks hgrtqdenpv vhffknivtp rtpppsqgkg
      241 rglslsrfsw reggrrpetr iwlrrqsvrl
//
LOCUS       XP_054174735            1311 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 532 isoform X5 [Homo sapiens].
ACCESSION   XP_054174735
VERSION     XP_054174735.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318760.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1311
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1311
                     /product="zinc finger protein 532 isoform X5"
                     /calculated_mol_wt=142758
     CDS             1..1311
                     /gene="ZNF532"
                     /coded_by="XM_054318760.1:825..4760"
                     /db_xref="GeneID:55205"
                     /db_xref="HGNC:HGNC:30940"
                     /db_xref="MIM:619066"
ORIGIN      
        1 mcpqkhllkl mtmgdmktpd fddllaafdi pdmvdpkaai esghddhesh mkqnahgedd
       61 shapsssdvg vsvivknvrn idsseggekd ghnptgnglh ngfltassld syskdgaksl
      121 kgdvpasevt lkdstfsqfs pissaeefdd dekievddpp dkedmrssfr snvltgsapq
      181 qdydklkalg genssktgls tsgnveknka vkreteassi nlsvyepfkv rkaedklkes
      241 sdkvlenrvl dgklsseknd tslpsvapsk tksssklssc iaaiaalsak kaasdsckep
      301 vansresspl pkevndspra adkspesqnl idgtkkpslk qpdsprsiss ensskgspss
      361 pagstpaipk vriktiktss geikrtvtrv lpevdldsgk kpseqtasvm asvtsllssp
      421 asaavlsspp raplqsavvt navspaeltp kqvtikpvat aflpvsavkt agsqvinlkl
      481 annttvkatv isaasvqsas saiikaanai qqqtvvvpas slanaklvpk tvhlanlnll
      541 pqgaqatsel rqvltkpqqq ikqaiinaaa sqppkkvsrv qvvsslqssv veafnkvlss
      601 vnpvpvyipn lsppanagit lptrgykcle cgdsfaleks ltqhydrrsv rievtcnhct
      661 knlvfynkcs llsharghke kgvvmqcshl ilkpvpadqm ivspssntst ststlqspvg
      721 agthtvtkiq sgitgtvisa psstpitpam pldedpsklc rhslkclecn evfqdetsla
      781 thfqqaadts gqktcticqm llpnqcsyas hqrihqhksp ytcpecgaic rsvhfqthvt
      841 knclhytrrv gfrcvhcnvv ysdvaalksh iqgshcevfy kcpicpmafk sapsthshay
      901 tqhpgikige pkiiykcsmc dtvftlqtll yrhfdqhien qkvsvfkcpd csllyaqkql
      961 mmdhiksmhg tlksiegppn lginlplsik patqnsanqn kedtksmngk eklekkspsp
     1021 vkksmetkkv aspgwtcwec dclfmqrdvy ishvrkehgk qmkkhpcrqc dksfssshsl
     1081 crhnrikhkg irkvyacshc pdsrrtftkr lmlekhvqlm hgikdpdlke mtdatneeet
     1141 eikedtkvps pkrkleepvl efrpprgait qplkklkinv fkvhkcavcg fttenllqfh
     1201 ehipqhksdg ssyqcrecgl cytshvslsr hlfivhklke pqpvskqnga gednqqenkp
     1261 shedespdga vsdrkckvca ktfeteaaln thmrthgmaf ikskrmssae k
//
LOCUS       XP_054176066             211 aa            linear   PRI 20-MAR-2023
DEFINITION  nesprin-4 isoform X7 [Homo sapiens].
ACCESSION   XP_054176066
VERSION     XP_054176066.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320091.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 5% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..211
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..211
                     /product="nesprin-4 isoform X7"
                     /calculated_mol_wt=22922
     CDS             1..211
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /coded_by="XM_054320091.1:222..857"
                     /db_xref="GeneID:163183"
                     /db_xref="HGNC:HGNC:26703"
                     /db_xref="MIM:615535"
ORIGIN      
        1 mhrlprvrrg ehevfeeant ldqdlevegd sdwpgpggvw gpwapsslpt stelewdpag
       61 digglgplgq ktartlgvpc elcghrgpqg rgqgleeadt shsrqdmles glghqkrlar
      121 hqrhsllrkp qdkkrqasph lqdvrlegnp gapdpasrqp ltfllilfll flllvgamfl
      181 lpasggpccs hariprtpyl vlsyvnglpp v
//
LOCUS       XP_054176262             429 aa            linear   PRI 20-MAR-2023
DEFINITION  lysine-specific demethylase 4B isoform X10 [Homo sapiens].
ACCESSION   XP_054176262
VERSION     XP_054176262.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320287.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..429
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..429
                     /product="lysine-specific demethylase 4B isoform X10"
                     /calculated_mol_wt=49124
     CDS             1..429
                     /gene="KDM4B"
                     /gene_synonym="JMJD2B; MRD65; TDRD14B"
                     /coded_by="XM_054320287.1:687..1976"
                     /db_xref="GeneID:23030"
                     /db_xref="HGNC:HGNC:29136"
                     /db_xref="MIM:609765"
ORIGIN      
        1 mgsedhgaqn psckimtfrp tmeefkdfnk yvayiesqga hraglakiip pkewkprqty
       61 ddiddvvipa piqqvvtgqs glftqyniqk kamtvgeyrr lansekyctp rhqdfddler
      121 kywknltfvs piygadisgs lydddvaqwn igslrtildm verecgtiie gvntpylyfg
      181 mwkttfawht edmdlysiny lhfgepkswy aippehgkrl erlaigffpg ssqgcdaflr
      241 hkmtlispii lkkygipfsr itqeagefmi tfpygyhagf nhgfncaest nfatlrwidy
      301 gkvatqctcr kdmvkismdv fvrilqpery elwkqgkdlt vldhtrptal tspelsswsa
      361 sraslkakll rrpgllcldv stphgnsrpl qmidseemrv avsvklclqt lksrshdfym
      421 lpntiiflf
//
LOCUS       XP_054176779             471 aa            linear   PRI 20-MAR-2023
DEFINITION  heterogeneous nuclear ribonucleoprotein L isoform X3 [Homo
            sapiens].
ACCESSION   XP_054176779
VERSION     XP_054176779.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320804.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..471
                     /product="heterogeneous nuclear ribonucleoprotein L
                     isoform X3"
                     /calculated_mol_wt=52565
     CDS             1..471
                     /gene="HNRNPL"
                     /gene_synonym="hnRNP-L; HNRPL; P/OKcl.14"
                     /coded_by="XM_054320804.1:19..1434"
                     /db_xref="GeneID:3191"
                     /db_xref="HGNC:HGNC:5045"
                     /db_xref="MIM:603083"
ORIGIN      
        1 msrrllprae krrrrleqrq qpdeqrrrsg amenyddphk tpaspvvhir glidgvvead
       61 lvealqefgp isyvvvmpkk rqalvefedv lgacnavnya adnqiyiagh pafvnystsq
      121 kisrpgdsdd srsvnsvllf tilnpiysit tptrlnvfkn dqdtwdytnp nlsgqgdpgs
      181 npnkrqrqpp llgdhpaeyg gphggyhshy hdegygpppp hyegrrmgpp vgghrrgpsr
      241 ygpqyghppp pppppeygph adspvlmvyg ldqskmncdr vfnvfclygn vekvkfmksk
      301 pgaamvemad gyavdraith lnnnfmfgqk lnvcvskqpa impgqsygle dgscsykdfs
      361 esrnnrfstp eqaaknriqh psnvlhffna plevteenff eicdelgvkr pssvkvfsgk
      421 sersssglle wesksdalet lgflnhyqmk npngpypytl klcfstaqha s
//
LOCUS       XP_054176879             399 aa            linear   PRI 20-MAR-2023
DEFINITION  interferon regulatory factor 3 isoform X4 [Homo sapiens].
ACCESSION   XP_054176879
VERSION     XP_054176879.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320904.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..399
                     /product="interferon regulatory factor 3 isoform X4"
                     /calculated_mol_wt=42821
     CDS             1..399
                     /gene="IRF3"
                     /gene_synonym="IIAE7"
                     /coded_by="XM_054320904.1:20..1219"
                     /db_xref="GeneID:3661"
                     /db_xref="HGNC:HGNC:6118"
                     /db_xref="MIM:603734"
ORIGIN      
        1 meawaeatga yvpgrdkpdl ptwkrnfrsa lnrkeglrla edrskdphdp hkiyefvnsg
       61 vgdfsqpdts pdtngggsts dtqedildel lgnmvlaplp dpgppslava pepcpqplrs
      121 psldnptpfp nlgpsenplk rllvpgeewe fevtafyrgr qvfqqtiscp eglrlvgsev
      181 gdrtlpgwpv tlpdpgmslt drgvmsyvrh vlsclgggla lwragqwlwa qrlghchtyw
      241 avseellpns ghgpdgevpk dkeggvfdlg pfivgswapr sdylhgrkrt lttlcplvlc
      301 ggvmapgpav dqeardgqgc ahvpqglgrn gpgrgcllpg eycgpahfqq pptlphlrpv
      361 qglpaglggg hgfpgpwgdl sprsswcasn ppvphhlnq
//
LOCUS       XP_054198522             121 aa            linear   PRI 20-MAR-2023
DEFINITION  protein yippee-like 5 isoform X1 [Homo sapiens].
ACCESSION   XP_054198522
VERSION     XP_054198522.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342547.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..121
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..121
                     /product="protein yippee-like 5 isoform X1"
                     /calculated_mol_wt=13711
     CDS             1..121
                     /gene="YPEL5"
                     /gene_synonym="CGI-127"
                     /coded_by="XM_054342547.1:203..568"
                     /db_xref="GeneID:51646"
                     /db_xref="HGNC:HGNC:18329"
                     /db_xref="MIM:609726"
ORIGIN      
        1 mgrifldhig gtrlfscanc dtiltnrsel istrftgatg raflfnkvvn lqysevqdrv
       61 mltgrhmvrd vsckncnskl gwiyefated sqrykegrvi leralvrese gfeehvpsdn
      121 s
//
LOCUS       XP_054199310             334 aa            linear   PRI 20-MAR-2023
DEFINITION  syndecan-1 isoform X1 [Homo sapiens].
ACCESSION   XP_054199310
VERSION     XP_054199310.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343335.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..334
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..334
                     /product="syndecan-1 isoform X1"
                     /calculated_mol_wt=34547
     CDS             1..334
                     /gene="SDC1"
                     /gene_synonym="CD138; SDC; SYND1; syndecan"
                     /coded_by="XM_054343335.1:227..1231"
                     /db_xref="GeneID:6382"
                     /db_xref="HGNC:HGNC:10658"
                     /db_xref="MIM:186355"
ORIGIN      
        1 mqqrlvgskc qclapslphl elslggggaa gegraeslde seamipqiva tnlppedqdg
       61 sgddsdnfsg sgagalqdit lsqqtpstwk dtqlltaipt speptgleat aaststlpag
      121 egpkegeavv lpevepglta reqeatprpr ettqlptthq astttattaq epatshphrd
      181 mqpghhetst pagpsqadlh tphtedggps ateraaedga ssqlpaaegs geqdftfets
      241 gentavvave pdrrnqspvd qgatgasqgl ldrkevlggv iagglvglif avclvgfmly
      301 rmkkkdegsy sleepkqang gayqkptkqe efya
//
LOCUS       XP_054200488             902 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat flightless-interacting protein 1 isoform X6
            [Homo sapiens].
ACCESSION   XP_054200488
VERSION     XP_054200488.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344513.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..902
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..902
                     /product="leucine-rich repeat flightless-interacting
                     protein 1 isoform X6"
                     /calculated_mol_wt=100669
     CDS             1..902
                     /gene="LRRFIP1"
                     /gene_synonym="FLAP-1; FLAP1; FLIIAP1; GCF-2; GCF2;
                     HUFI-1; TRIP"
                     /coded_by="XM_054344513.1:59..2767"
                     /db_xref="GeneID:9208"
                     /db_xref="HGNC:HGNC:6702"
                     /db_xref="MIM:603256"
ORIGIN      
        1 mdmgtqgsgr krlpnrerlt aeddalnqia reaearlaak raaraearei rmkelerqqk
       61 eiyqvqkkyy gldtkwgdie qwmedserys rrsrrntsas dedermsvgs rgslrveerp
      121 ekdftekgsr nmpglsaatl aslggtssrr gsgdtsisid teasireike lnelkdqiqd
      181 vegkymqglk emkdslaeve ekykkamvsn aqldnektnf myqvdtlkdm lleleeqlae
      241 srrqyeeknk eferekhahs ilqfqfaevk ealkqreeml eeirqlqqkq assireisdl
      301 qetiewkdkk igalerqkef fdsvrserdd lreevvmlke elkkhgiiln seiatngets
      361 dtlnnvgyqg ptkmtkeeln alkstgdgtl grasevevkn eivanvgkre ilhntekeqh
      421 tedtvkdcvd ievfpagent edqkssedta pflgtlagat yeeqvqsqil essslpentv
      481 qvesnevmga pddrtrtple psncwsdldg gnhtenvgea avtqveeqag tvascplghs
      541 ddtvyhddkc mvevpqelet stghslekef tnqeaaepke vpahstevgr dhneeegeet
      601 glrdekpikt evpgspagte gncqeatgps tvdtqnepld mkepdeeksd qqgealdssq
      661 kktknkkkkn kkkkspvpve tlkdvkkelt yqntdlseik eeeqvkstdr ksaveaqnev
      721 tenpkqkiaa essenvdcpe npkikldgkl dqegddvqta aeevladgdt ldfeddtvqs
      781 sgpraggeel degvakdnak idgatqsspa epksedadrc tlpehespsq disdaceaes
      841 tercemsehp sqtvrkalds nslenddlsa pgrepghfnp esredtrggn ekgkskedct
      901 ms
//
LOCUS       XP_047299906             219 aa            linear   PRI 20-MAR-2023
DEFINITION  fumarylacetoacetate hydrolase domain-containing protein 2B-like
            isoform X2 [Homo sapiens].
ACCESSION   XP_047299906
VERSION     XP_047299906.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047443950.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..219
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..219
                     /product="fumarylacetoacetate hydrolase domain-containing
                     protein 2B-like isoform X2"
                     /calculated_mol_wt=24269
     Region          84..>210
                     /region_name="MhpD"
                     /note="2-keto-4-pentenoate
                     hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase
                     (catechol pathway) [Secondary metabolites biosynthesis,
                     transport and catabolism]; COG0179"
                     /db_xref="CDD:223257"
     CDS             1..219
                     /gene="LOC124900512"
                     /coded_by="XM_047443950.1:2754..3413"
                     /db_xref="GeneID:124900512"
ORIGIN      
        1 mgqralgyia lgiseilmma lgssvswilh fslqalmvvs grrlltallq aqkwpfqpsr
       61 dmrlvqfwap hlvgphlgle tgngrgiinl nafdptlpkt mtqfleqgea tlsvarrala
      121 aqlpvlprse vtflapvtwp dkvvcvgmny vdhckeqnvp vpkepiifsk fassivgpyd
      181 evvlppqsqe vdwevelavv igkkgkhikv kwkrcwchp
//
LOCUS       XP_054179649             523 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 64 isoform X5 [Homo sapiens].
ACCESSION   XP_054179649
VERSION     XP_054179649.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323674.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..523
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..523
                     /product="zinc finger protein 64 isoform X5"
                     /calculated_mol_wt=57633
     CDS             1..523
                     /gene="ZFP64"
                     /gene_synonym="ZNF338"
                     /coded_by="XM_054323674.1:601..2172"
                     /db_xref="GeneID:55734"
                     /db_xref="HGNC:HGNC:15940"
                     /db_xref="MIM:618111"
ORIGIN      
        1 mkdmerhlki htgdkphkce vcgkcfsrkd klkthmrcht gvkpykcktc dyaaadsssl
       61 nkhlrihsde rpfkcqicpy asrnssqltv hlrshtgdap fqcwlcsakf kissdlkrhm
      121 rvhsgekpfk cefcnvrctm kgnlkshiri khsgnnfkcp hcdflgdska tlrkhsrvhq
      181 sehpekcsec syscsskaal riherihctd rpfkcnycsf dtkqpsnlsk hmkkfhgdmv
      241 ktealerkdt grqssrqvak ldakksfhcd icdasfmred slrshkrqhs eysesknsdv
      301 tvlqfqidps kqpatpltvg hlqvplqpsq vpqfsegrvk iivghqvpqa ntivqaaaaa
      361 vnivppalva qnpeelpgns rlqilrqvsl iappqssrcp seagamtqpa vllttheqtd
      421 gatlhqtlip tasggpqegs gnqtfitssg itctdfegln aliqegtaev tvvsdggqni
      481 avattappvf ssssqqelpk qtysiiqgaa hpallcpads ipd
//
LOCUS       XP_054180099            2715 aa            linear   PRI 20-MAR-2023
DEFINITION  chromodomain-helicase-DNA-binding protein 6 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054180099
VERSION     XP_054180099.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324124.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2715
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2715
                     /product="chromodomain-helicase-DNA-binding protein 6
                     isoform X2"
                     /calculated_mol_wt=305283
     CDS             1..2715
                     /gene="CHD6"
                     /gene_synonym="CHD-6; CHD5; RIGB"
                     /coded_by="XM_054324124.1:7203..15350"
                     /db_xref="GeneID:84181"
                     /db_xref="HGNC:HGNC:19057"
                     /db_xref="MIM:616114"
ORIGIN      
        1 mkmkiqkkek qlsnlkvlnh spmsdasvnf dykspspfdc stdqeekied vashclpqkd
       61 lytaeeeaat lfprkmtshn gmedsggggt gvkkkrkkke pgdqegaakg skdrepkpkr
      121 krepkepkep rkakepkkak ehkepkqkdg akkarkprea sgtkeakekr sctdsaartk
      181 srkaskeqgp tpvekkkkgk rksettvesl eldqgltnps lrspeestes tdsqkrrsgr
      241 qvkrrkyned ldfkvvdddg etiavlgagr tsalsastla wqaeeppedd aniiekilas
      301 ktvqevhpge ppfdlelfyv kyrnfsylhc kwatmeelek dpriaqkikr frnkqaqmkh
      361 iftepdedlf npdyvevdri levahtkdae tgeevthylv kwcslpyees tweleedvdp
      421 akvkefeslq vlpeikhver pasdswqkle ksreyknsnq lreyqlegmn wllfnwynrk
      481 ncilademgl gktiqsitfl seiflrgihg pfliiaplst itnwerefrt wtemnaivyh
      541 gsqisrqmiq qyemvyrdaq gnplsgvfkf hvvittfemi ladcpelkki hwscviidea
      601 hrlknrnckl leglklmale hkvlltgtpl qnsveelfsl lnflepsqfp setafleefg
      661 dlkteeqvkk lqsilkpmml rrlkddvekn lapkqetiie veltniqkky yraileknfs
      721 fltkganqhn mpnlintmme lrkccnhpyl ingaeekile dfrkthspda pdfqlqamiq
      781 aagklvlidk llpkliaggh kvlifsqmvr cldiledyli qrrytyerid grvrgnlrqa
      841 aidrfckpds drfvfllctr agglginlta adtciifdsd wnpqndlqaq archrigqsk
      901 avkvyrlitr nsyeremfdk aslklgldka vlqdinrkgg tngvqqlskm evedllrkga
      961 ygalmdeede gskfceedid qilqrrthti tiqsegkgst fakasfvasg nrtdislddp
     1021 nfwqkwakia eldteaknek eslvidrprv rkqtkhynsf eedelmefse ldsdsderpt
     1081 rsrrlndkar rylraecfrv eknllifgwg rwkdilthgr fkwhlnekdm emicrallvy
     1141 cvkhykgdek iksfiwelit ptkdgqaqtl qnhsglsapv prgrkgkktk nqllipelkd
     1201 adwlatcnpe vvlhddgykk hlkqhcnkvl lrvrmlyylk aeilgeaaek afegsparel
     1261 dvplpdidym eipvdwwdae adkslligvf khgyerynam radpalcfle kvgmpdeksl
     1321 saeqgvtdgt sdipergntd kednaedkvd glqkqtesss dggdgvfsek kddsraaqdg
     1381 sdpdkspwpv ssaltarlrr lvtvyqrcnr kelcrpeilg pgnqgywvqe emfrrtsemd
     1441 linkeaqkrw trreqadfyr tvssfgvvyd qekktfdwtq friisrldkk sdesleqyfy
     1501 sfvamcrnvc rlptwkdggp pdttiyvepi teeraartly riellrkvre qvlkcpqlhe
     1561 rlqlcrpsly lpvwwecgkh drdlligtak hglnrtdcyi mndpqlsfld ayrnyaqhkr
     1621 sgtqapgnlc clyqtnskly esltysqmsr tseslenepe nlvrvesrdd hlslpdvtce
     1681 nfiskvqdvi sinhdesllp eslesmmygk kvlsqepssf qespstntes rkdvitisis
     1741 kdgncqsggp eaeiasgptf mgsleaggva qanikngkhl lmsiskegel ccseagqrpe
     1801 nigqleakcl aspslnpgne sgfvdmcsls vcdskrnlss dqqlidllen kslesklils
     1861 qnhsdeeeee eeneeenlam avgmgerpev lhltepttni sreknqgfqd etkkgsleva
     1921 nqtpglqraf papaacqchc khmerwmhgl endefeiekp kayipdlfks ktntiamege
     1981 ptaipsqpfk vkhellkepw kesaegqnvf ptyplegsel ksedmdfenk ddydrdgnch
     2041 sqdypgkyse eesksstsgi tgdigdelqe araptiaqll qektlysfse wpkdrviinr
     2101 ldnichvvlk gkwpssqqye psgtlptpvl tssagsrtsl sepeaaehsf sngaalaaqi
     2161 hkesflapvf tkdeqkhrrp yefeverdak argleqfsat hghtpiilng whgesamdls
     2221 cssegspgat spfpvsastp kigaisslqg algmdlsgil qaglihpvtg qivngslrrd
     2281 daatrrrrgr rkhveggmdl iflkeqtlqa gilevhedpg qatlstthpe gpgpatsape
     2341 pataassqae ksipskslld wlrqqadysl evpgfganfs dkpkqrrprc kepgkldvss
     2401 lsgeervpai pkepglrgfl penkfnhtla epilrdtgpr rrgrrprsel lkapsivads
     2461 psgmgplfmn gliagmdlvg lqnmrnmpgi pltglvgfpa gfatmptgee vkstlsmlpm
     2521 mlpgmaavpq mfgvggllsp pmattctsta paslssttks gtavtektae dkpsshdvkt
     2581 dtlaedkpgp gpfsdqsepa ittsspvafn pflipgvspg liypsmflsp gmgmalpamq
     2641 qarhseivgl esqkrkkkkt kgdnpnshpe papscereps gdencaepsa plpaerehga
     2701 qagegalkds nndtn
//
LOCUS       XP_054180934             757 aa            linear   PRI 20-MAR-2023
DEFINITION  PAX3- and PAX7-binding protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054180934
VERSION     XP_054180934.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324959.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..757
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..757
                     /product="PAX3- and PAX7-binding protein 1 isoform X2"
                     /calculated_mol_wt=86103
     CDS             1..757
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /coded_by="XM_054324959.1:88..2361"
                     /db_xref="GeneID:94104"
                     /db_xref="HGNC:HGNC:13579"
                     /db_xref="MIM:617621"
ORIGIN      
        1 mfrkarrvnv rkrndseeee rerdeeqepp pllpppgtge eagpgggdra pggesllgpg
       61 psppsaltpg lgaeagggfp ggaepgnglk prkrprenke vprasllsfq deeeeneevf
      121 kvkkssyskk ivkllkkeyk edlekskikt elnssaeseq pldktghvkd tnqedgviis
      181 ehgedemdme sekeeekpkt ggafsnalss lnvlrpgeip daafihaark krqmarelgd
      241 ftphdnepgk grlvredend asddedddek rrivfsvkek sqrqkiaeei giegsdddal
      301 vtgeqdeels rweqeqirkg inipqvqasq paevnmyyqn tyqtmpygss ygipysytay
      361 gssdaksqkt dntvpfktps nemtpvtidl vkkqlkdrld smkelhktnr qqhekhlqsr
      421 vdstraierl egssggiger ykflqemrgy vqdllecfse kvplineles aihqlykqra
      481 srlvqrrqdd ikdessefss hsnkalmapn ldsfgrdral yqehakrria erearrtrrr
      541 qareqtgkma dhleglssdd eetstditnf nlekdriske sgkvfedvle sfysidciks
      601 qfeawrskyy tsykdayigl clpklfnpli rlqlltwtpl eakcrdfenm lwfesllfyg
      661 ceereqekdd vdvallptiv ekvilpkltv iaenmwdpfs ttqtsrmvgi tlklingyps
      721 vvnaenkntq vylkalllrm rrtldddvfm plypknc
//
LOCUS       XP_054181850             418 aa            linear   PRI 20-MAR-2023
DEFINITION  somatostatin receptor type 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054181850
VERSION     XP_054181850.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325875.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..418
                     /product="somatostatin receptor type 3 isoform X1"
                     /calculated_mol_wt=45716
     CDS             1..418
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /coded_by="XM_054325875.1:833..2089"
                     /db_xref="GeneID:6753"
                     /db_xref="HGNC:HGNC:11332"
                     /db_xref="MIM:182453"
ORIGIN      
        1 mdmlhpssvs ttsepenass awppdatlgn vsagpspagl avsgvliplv ylvvcvvgll
       61 gnslviyvvl rhtaspsvtn vyilnlalad elfmlglpfl aaqnalsywp fgslmcrlvm
      121 avdginqfts ifcltvmsvd rylavvhptr sarwrtapva rtvsaavwva savvvlpvvv
      181 fsgvprgmst chmqwpepaa awragfiiyt aalgffgpll viclcylliv vkvrsagrrv
      241 wapscqrrrr serrvtrmvv avvalfvlcw mpfyvlnivn vvcplpeepa ffglyflvva
      301 lpyanscanp ilygflsyrf kqgfrrvllr psrrvrsqep tvgppektee edeeeedgee
      361 sreggkgkem ngrvsqitqp gtsgqerpps rvaskeqqll pqeastgeks stmrisyl
//
LOCUS       XP_054181944            1234 aa            linear   PRI 20-MAR-2023
DEFINITION  clathrin heavy chain 2 isoform X16 [Homo sapiens].
ACCESSION   XP_054181944
VERSION     XP_054181944.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325969.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1234
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1234
                     /product="clathrin heavy chain 2 isoform X16"
                     /calculated_mol_wt=139112
     CDS             1..1234
                     /gene="CLTCL1"
                     /gene_synonym="CHC22; CLH22; CLTCL; CLTD"
                     /coded_by="XM_054325969.1:79..3783"
                     /db_xref="GeneID:8218"
                     /db_xref="HGNC:HGNC:2093"
                     /db_xref="MIM:601273"
ORIGIN      
        1 maqilpvrfq ehfqlqnlgi npanigfstl tmesdkfici rekvgeqaqv tiidmsdpma
       61 pirrpisaes aimnpaskvi alkagktlqi fniemkskmk ahtmaeevif wkwvsvntva
      121 lvtetavyhw smegdsqpmk mfdrhtslvg cqvihyrtde yqkwlllvgi saqqnrvvga
      181 mqlysvdrkv sqpieghaaa faefkmegna kpatlfcfav rnptggklhi ievgqpaagn
      241 qpfvkkavdv ffppeaqndf pvamqigakh gviylitkyg ylhlydlesg vcicmnrisa
      301 dtifvtaphk ptsgiigvnk kgqvlsvcve ednivnyatn vlqnpdlglr lavrsnlaga
      361 eklfvrkfnt lfaqgsyaea akvaasapkg ilrtretvqk fqsipaqsgq aspllqyfgi
      421 lldqgqlnkl eslelchlvl qqgrkqllek wlkedklecs eelgdlvktt dpmlalsvyl
      481 ranvpskviq cfaetgqfqk ivlyakkvgy tpdwifllrg vmkispeqgl qfsrmlvqde
      541 eplanisqiv difmensliq qctsflldal knnrpaegll qtwllemnlv hapqvadail
      601 gnkmfthydr ahiaqlceka gllqqalehy tdlydikrav vhthllnpew lvnffgslsv
      661 edsveclham lsanirqnlq lcvqvaskyh eqlgtqalve lfesfksykg lfyflgsivn
      721 fsqdpdvhlk yiqaacktgq ikevericre sscynpervk nflkeakltd qlpliivcdr
      781 fgfvhdlvly lyrnnlqryi eiyvqkvnps rtpaviggll dvdcseevik hlimavrgqf
      841 stdelvaeve krnrlklllp wlesqiqegc eepathnala kiyidsnnsp ecflrenayy
      901 dssvvgryce krdphlacva yergqcdlel ikvcnenslf ksearylvcr kdpelwahvl
      961 eetnpsrrql idqvvqtals etrdpeeisv tvkafmtadl pneliellek ivldnsvfse
     1021 hrnlqnllil taikadrtrv meyisrldny daldiasiav ssalyeeaft vfhkfdmnas
     1081 aiqvliehig nldrayefae rcnepavwsq laqaqlqkdl vkeainsyir gddpssylev
     1141 vqsasrsskl etavtrrect rlpscsiamf ltlpawlppw ftsvsirqqw ttaarpaapg
     1201 rgrrcalpaw mdkssashsc vvftssfmqm swrs
//
LOCUS       XP_054182189             990 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform
            X1 [Homo sapiens].
ACCESSION   XP_054182189
VERSION     XP_054182189.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326214.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..990
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..990
                     /product="serine/threonine-protein phosphatase 6
                     regulatory subunit 2 isoform X1"
                     /calculated_mol_wt=107384
     CDS             1..990
                     /gene="PPP6R2"
                     /gene_synonym="KIAA0685; PP6R2; SAP190; SAPS2"
                     /coded_by="XM_054326214.1:505..3477"
                     /db_xref="GeneID:9701"
                     /db_xref="HGNC:HGNC:19253"
                     /db_xref="MIM:610877"
ORIGIN      
        1 mdfqdlglvl lrvdlqssaa vtmfwkfdln ttshvdklld kehvtlqelm deddilqeck
       61 aqnqklldfl crqqcmeelv slitqdppld meekvrfkyp ntacelltcd vpqisdrlgg
      121 desllsllyd fldhepplnp llasffskti gnliarkteq vitflkkkdk fislvlkhig
      181 tsalmdlllr lvscvepagl rqdvlhwlne ekviqrlvel ihpsqdedrq snasqtlcdi
      241 vrlgrdqgsq lqealepdpl ltalesrqdc veqllknmfd gdrtesclvs gtqvlltlle
      301 trrvgteglv dsfsqglers yavsssvlhg ieprlkdfhq lllnppkkka ilttigvlee
      361 plgnarlhga rlmaallhtn tpsinqelcr lntmdllldl ffkytwnnfl hfqvelciaa
      421 ilshaareer teasgsesrv epphengnrs letpqpaasl pdntmvthlf qkcclvqril
      481 eaweandhtq aaggmrrgnm ghltrianav vqnlergpvq thisevirgl padcrgrwes
      541 fveetltetn rrntvdlvst hhlhsssede diegafpnel slqqafsdyq iqqmtanfvd
      601 qfgfndeefa dqddninapf driaeinfni dadedspsaa lfeaccsdri qpfdddeded
      661 iwedsdtrca arvmarprfg aphasescsk ngperggqdg kasleahrda pgagappapg
      721 kkeappvegd seagamwtav fdepanstpt apgvvkdvgs svwaagtsap eekgwakftd
      781 fqpfccsesg prcsspvdte cshaegsrsq gpekasqasy favspaspca wnvcvtrkap
      841 llasdssssg gshsedgdqk aasamdavsr gpgreapplp tvarteeavg rvgcadsrll
      901 spacpapkev taapavavpp eatvaittal skagpaiptp avssalavav plgpimavta
      961 apamvatlgt vtkdgktdap pegaalngpv
//
LOCUS       XP_054201360             179 aa            linear   PRI 20-MAR-2023
DEFINITION  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform
            X2 [Homo sapiens].
ACCESSION   XP_054201360
VERSION     XP_054201360.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345385.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..179
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..179
                     /product="CKLF-like MARVEL transmembrane domain-containing
                     protein 8 isoform X2"
                     /calculated_mol_wt=20613
     CDS             1..179
                     /gene="CMTM8"
                     /gene_synonym="CKLFSF8; CKLFSF8-V2"
                     /coded_by="XM_054345385.1:87..626"
                     /db_xref="GeneID:152189"
                     /db_xref="HGNC:HGNC:19179"
                     /db_xref="MIM:607891"
ORIGIN      
        1 mslmarlekl lyriesyftd kyvqcmrywv fqenevldpa fkagyitavd nhktmvlgll
       61 vwtliagtey frvpafgwvm fvavfywvlt vffliiyitm tytripqvpw ttvglcfngs
      121 afvlylsaav vdassvsper dshnfnswaa ssffaflvti cyagntyfsf iawrsrtiq
//
LOCUS       XP_054201471             904 aa            linear   PRI 20-MAR-2023
DEFINITION  disks large homolog 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054201471
VERSION     XP_054201471.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345496.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 13% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..904
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..904
                     /product="disks large homolog 1 isoform X2"
                     /calculated_mol_wt=100277
     CDS             1..904
                     /gene="DLG1"
                     /gene_synonym="DLGH1; hdlg; SAP-97; SAP97"
                     /coded_by="XM_054345496.1:495..3209"
                     /db_xref="GeneID:1739"
                     /db_xref="HGNC:HGNC:2900"
                     /db_xref="MIM:601014"
ORIGIN      
        1 mpvrkqdtqr alhlleeyrs klsqtedrql rssiervini fqsnlfqali diqefyevtl
       61 ldnpkcidrs kpsepiqpvn tweisslpss tvtsetlpss lspsvekyry qdedtppqeh
      121 ispqitnevi gpelvhvsek nlseienvhg fvshshispi kpteavlpsp ptvpvipvlp
      181 vpaentvilp tipqanpppv lvntdsletp tyvngtdady eyeeitlerg nsglgfsiag
      241 gtdnphigdd ssifitkiit ggaaaqdgrl rvndcilqvn evdvrdvths kavealkeag
      301 sivrlyvkrr kpvsekimei klikgpkglg fsiaggvgnq hipgdnsiyv tkiieggaah
      361 kdgklqigdk llavnnvcle evtheeavta lkntsdfvyl kvakptsmym ndgyappdit
      421 nsssqpvdnh vspssflgqt pasparyspv skavlgddei treprkvvlh rgstglgfni
      481 vggedgegif isfilaggpa dlsgelrkgd riisvnsvdl raasheqaaa alknagqavt
      541 ivaqyrpeey shfeakihdl reqmmnssis sgsgslrtsq krslyvralf dydktkdsgl
      601 psqglnfkfg dilhvinasd dewwqarqvt pdgesdevgv ipskrrvekk erarlktvkf
      661 nsktrdkgei pddmgskglk hvtsnasdse ssyrgqeeyv lsyepvnqqe vnytrpviil
      721 gpmkdrindd lisefpdkfg scvphttrpk rdyevdgrdy hfvtsreqme kdiqehkfie
      781 agqynnhlyg tsvqsvreva ekgkhcildv sgnaikrlqi aqlypisifi kpksmenime
      841 mnkrlteeqa rktferamkl eqeftehfta ivqgdtledi ynqvkqiiee qsgsyiwvpa
      901 kekl
//
LOCUS       XP_054202062             791 aa            linear   PRI 20-MAR-2023
DEFINITION  CCR4-NOT transcription complex subunit 10 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054202062
VERSION     XP_054202062.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346087.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..791
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..791
                     /product="CCR4-NOT transcription complex subunit 10
                     isoform X3"
                     /calculated_mol_wt=87672
     CDS             1..791
                     /gene="CNOT10"
                     /coded_by="XM_054346087.1:86..2461"
                     /db_xref="GeneID:25904"
                     /db_xref="HGNC:HGNC:23817"
ORIGIN      
        1 mksigvktvk vcgskssvri egqpcslgqs rrkvklmger sytlsigngd yfwankemlw
       61 dyvqtlsdqg aekhegtgqs sgitdqekel stnafqafts gnydaclqhl aclqdinkdd
      121 ykiilntava effksnqttt dnlrqtlnql knqvhsavee mdglddvens mlyynqavil
      181 yhlrqyteai svgeklyqfi epfeekfaqa vcfllvdlyi ltyqaekalh llavlekmis
      241 qgnnnkngkn etgnnnnkdg snhkaesgal ieaakskihq ykvrayiqmk slkackreik
      301 svmntagnsa pslflksnfe ylrgnyrkav kllnssniae hpgfmktgec lrcmfwnnlg
      361 cihfamskhn lgifyfkkal qendnvcaql sagstdpgkk fsgrpmctll tnkryellyn
      421 cgiqllhigr plaafeclie avqvyhanpr lwlrlaecci aankgtseqe tkglpskkgi
      481 vqsivgqgyh rkivlasqsi qntvyndgqs saipvasmef aaiclrnall llpeeqqdpk
      541 qengaknsnq lggntesses setcskshdg dkfipappss plrkqelenl kcsilacsay
      601 valalgdnlm alnhadkllq qpklsgslkf lghlyaaeal isldrisdai thlnpenvtd
      661 vslgissneq dqagkrapqc ypssvnsart vmlfnlgsay clrseydkar kclhqaasmi
      721 hpkevppeai llavylelqn gntqlalqii krnqllpavk thsevrkkpv fqpvhpiqpi
      781 qmpafttvqr k
//
LOCUS       XP_054202156            1028 aa            linear   PRI 20-MAR-2023
DEFINITION  contactin-6 isoform X1 [Homo sapiens].
ACCESSION   XP_054202156
VERSION     XP_054202156.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346181.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1028
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1028
                     /product="contactin-6 isoform X1"
                     /calculated_mol_wt=113826
     CDS             1..1028
                     /gene="CNTN6"
                     /gene_synonym="NB3"
                     /coded_by="XM_054346181.1:679..3765"
                     /db_xref="GeneID:27255"
                     /db_xref="HGNC:HGNC:2176"
                     /db_xref="MIM:607220"
ORIGIN      
        1 mrllwklvil lplinssagd gllsrpiftq ephdvifpld lsksevilnc aangypsphy
       61 rwkqngtdid ftmsyhyrld ggslainsph tdqdigmyqc latnllgtil srkaklqfay
      121 iedfetktrs tvsvregqgv vllcgppphf gdlsyawtfn dnplyvqedn rrfvsqetgn
      181 lyiakvepsd vgnytcfitn keaqrsvqgp ptplvqrtdg vmgeyepkie vrfpetiqaa
      241 kdssvklecf algnpvpdis wrrldgsplp gkvkysksqa ileipnfqqe degfyecias
      301 nlrgrnlakg qlifyappew eqkiqnthls iydnllweck asgkpnpwyt wlkngerlnp
      361 eeriqiengt liitmlnvsd sgvyqcaaen kyqiiyanae lrvlasapdf skspvkkksf
      421 vqvggdivig ckpnafpraa iswkrgtetl rqskriflle dgslkiynit rsdagsytci
      481 atnqfgtakn tgslivkert vitvppskmd vtvgesivlp cqvshdpsie vvfvwffngd
      541 vidlkkgvah feriggesvg dlmirniqlh hsgkylctvq ttleslsava diivrgppgp
      601 pedvqvedis sttsqlswra gpdnnspiqi ftiqtrtpfs vgwqavatvp eilngktyna
      661 tvvglspwve yefrvvagns igigepseps ellrtkasvp vvapvnihgg ggsrselvit
      721 wesipeelqn gegfgyiimf rpvgsttwsk ekvssvessr fvyrnesiip lspfevkvgv
      781 ynnegegsls tvtivysged epqlaprgts lqsfsaseme vswnaiawnr ntgrvlgyev
      841 lywtddskes migkirvsgn vttknitglk antiyfasvr ayntagtgps sppvnvttkk
      901 sppsqppani awkltnsklc lnwehvktme nesevlgyki lyrqnrqskt hiletnntsa
      961 ellvpfeedy lieirtvsdg gdgssseeir ipkmsslssr giqflepsth flsivivifh
     1021 cfaiqpli
//
LOCUS       XP_054203486             516 aa            linear   PRI 20-MAR-2023
DEFINITION  semaphorin-3F isoform X4 [Homo sapiens].
ACCESSION   XP_054203486
VERSION     XP_054203486.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347511.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..516
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..516
                     /product="semaphorin-3F isoform X4"
                     /calculated_mol_wt=58626
     CDS             1..516
                     /gene="SEMA3F"
                     /gene_synonym="SEMA-IV; SEMA4; SEMAK"
                     /coded_by="XM_054347511.1:290..1840"
                     /db_xref="GeneID:6405"
                     /db_xref="HGNC:HGNC:10728"
                     /db_xref="MIM:601124"
ORIGIN      
        1 mlvaglllwa slltgawpsf ptqdhlpatp rvrlsfkelk atgtahffnf llnttdyril
       61 lkdedhdrmy vgskdyvlsl dlhdinrepl iihwaaspqr ieecvlsgkd vngecgnfvr
      121 liqpwnrthl yvcgtgaynp mctyvnrgrr aqatpwtqtq avrgrgsrat dgalrpmpta
      181 prqdyifyle perlesgkgk cpydpkldta salineelya gvyidfmgtd aaifrtlgkq
      241 tamrtdqyns rwlndpsfih aelipdsaer nddklyfffr ersaeapqsp avyarigric
      301 lnddgghccl vnkwstflka rlvcsvpged giethfdelq dvfvqqtqdv rnpviyavft
      361 ssgsvfrgsa vcvysmadir mvfngpfahk egpnyqwmpf sgkmpyprpg tcpggtftps
      421 mkstkdypde vinfmrshpl myqavyplqr rplvvrtgap yrlttiavdq vdaadgryet
      481 agqcrrslcc prmtrrwrss cwrrwrssri qhpsrp
//
LOCUS       XP_054203688             648 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor subfamily 2 group C member 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054203688
VERSION     XP_054203688.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347713.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..648
                     /product="nuclear receptor subfamily 2 group C member 2
                     isoform X1"
                     /calculated_mol_wt=70793
     CDS             1..648
                     /gene="NR2C2"
                     /gene_synonym="TAK1; TR4"
                     /coded_by="XM_054347713.1:349..2295"
                     /db_xref="GeneID:7182"
                     /db_xref="HGNC:HGNC:7972"
                     /db_xref="MIM:601426"
ORIGIN      
        1 matnmeglvq hrvgtqqvae vtrtqtsrpe spgmtspspr iqiistdsav aspqriqgse
       61 pasgplsvft slnkekivtd qqtgqkiqiv tavdasgspk qqfiltspdg agtgkvilas
      121 petssakqli fttsdnlvpg riqivtdsas verllgktdv qrpqvveycv vcgdkasgrh
      181 ygavscegck gffkrsvrkn ltyscrsnqd ciinkhhrnr cqfcrlkkcl emgmkmesvq
      241 serkpfdvqr ekpsncaast ekiyirkdlr spliatptfv adkdgarqtg lldpgmlvni
      301 qqpliredgt vllatdskae tsqgalgtla nvvtslanls eslnngdtse iqpedqsase
      361 itrafdtlak alnttdssss psladgidts gggsihvisr dqstpiieve gpllsdthvt
      421 fkltmpspmp eylnvhyice sasrllflsm hwarsipafq algqdcntsl vracwnelft
      481 lglaqcaqvm slstilaaiv nhlqnsiqed klsgdrikqv mehiwklqef cnsmakldid
      541 gyeyaylkai vlfspdhpgl tstsqiekfq ekaqmelqdy vqktysedty rlarilvrlp
      601 alrlmssnit eelfftglig nvsidsiipy ilkmetaeyn gqitgasl
//
LOCUS       XP_054205114              81 aa            linear   PRI 20-MAR-2023
DEFINITION  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_054205114
VERSION     XP_054205114.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349139.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..81
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..81
                     /product="cytochrome c oxidase subunit 7B2, mitochondrial
                     isoform X1"
                     /calculated_mol_wt=8946
     CDS             1..81
                     /gene="COX7B2"
                     /coded_by="XM_054349139.1:386..631"
                     /db_xref="GeneID:170712"
                     /db_xref="HGNC:HGNC:24381"
                     /db_xref="MIM:609811"
ORIGIN      
        1 mmfplarnal sslkiqsilq smarhshvkh spdfhdkygn avlasgtafc vatwvftatq
       61 igiewnlspv grvtpkewkh q
//
LOCUS       XP_054205331             545 aa            linear   PRI 20-MAR-2023
DEFINITION  palladin isoform X16 [Homo sapiens].
ACCESSION   XP_054205331
VERSION     XP_054205331.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349356.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..545
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..545
                     /product="palladin isoform X16"
                     /calculated_mol_wt=58898
     CDS             1..545
                     /gene="PALLD"
                     /gene_synonym="CGI-151; CGI151; MYN; PNCA1; SIH002"
                     /coded_by="XM_054349356.1:247..1884"
                     /db_xref="GeneID:23022"
                     /db_xref="HGNC:HGNC:17068"
                     /db_xref="MIM:608092"
ORIGIN      
        1 msalasrsap amqssgsfny arpkqfiaaq nlgpasghgt passpssssl pspmsptprq
       61 fgrapvppfa qpfgaepeap wgssspsppp ppppvfspta afpvpdvfpl pppppplpsp
      121 gqashcsspa trfghsqtpa aflsallpsq pppaavnalg lpkgvtpagf pkkasrtari
      181 asdeeiqgtk daviqdlerk lrfkedllnn gqprltyeer marrllgads atvfniqepe
      241 eetanqiywf kdgkqispks dhytiqrdld gtcslhttas tldddgnyti maanpqgris
      301 ctgrlmvqav nqrgrsprsp sghphvrrpr srsrdsgden epiqerffrp hflqapgdlt
      361 vqegklcrmd ckvsglptpd lswqldgkpv rpdsahkmlv rengvhslii epvtsrdagi
      421 ytciatnrag qnsfslelvv aakeahkppv fieklqntgv adgypvrlec rvlgvpppqi
      481 fwkkeneslt hstdrvsmhq dnhgyiclli qgatkedagw ytvsakneag ivsctarldv
      541 yisrh
//
LOCUS       XP_054205917             543 aa            linear   PRI 20-MAR-2023
DEFINITION  complement factor I isoform X2 [Homo sapiens].
ACCESSION   XP_054205917
VERSION     XP_054205917.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349942.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..543
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..543
                     /product="complement factor I isoform X2"
                     /calculated_mol_wt=61098
     CDS             1..543
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF;
                     KAF"
                     /coded_by="XM_054349942.1:29..1660"
                     /db_xref="GeneID:3426"
                     /db_xref="HGNC:HGNC:5394"
                     /db_xref="MIM:217030"
ORIGIN      
        1 mkllhvfllf lcfhlrfckv tytsqedlve kkclakkyth lscdkvfcqp wqrciegtcv
       61 cklpyqcpkn gtavcatnrr sfptycqqks leclhpgtkf lnngtctaeg kfsvslkhgn
      121 tdsegivevk lvdqdktmfi cksswsmrea nvacldlgfq qgadtqrrfk lsdlsinste
      181 clhvhcrgle tslaectftk rrtmgyqdfa dvvcytqkad spmddffqcv ngkyisqmka
      241 cdgindcgdq sdelcckacq gkgfhcksgv cipsqyqcng evdcitgede vgcaaarhpt
      301 iqgfasvaqe eteiltadmd aerrriksll pklscgvknr mhirrkrivg gkraqlgdlp
      361 wqvaikdasg itcggiyigg cwiltaahcl raskthryqi wttvvdwihp dlkrivieyv
      421 driifhenyn agtyqndial iemkkdgnkk dcelprsipa cvpwspylfq pndtcivsgw
      481 grekdnervf slqwgevkli sncskfygnr fyekemecad rlllccpgws avarsqltat
      541 sts
//
LOCUS       XP_054206044             450 aa            linear   PRI 20-MAR-2023
DEFINITION  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase
            2, mitochondrial isoform X12 [Homo sapiens].
ACCESSION   XP_054206044
VERSION     XP_054206044.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350069.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..450
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..450
                     /product="bifunctional methylenetetrahydrofolate
                     dehydrogenase/cyclohydrolase 2, mitochondrial isoform X12"
                     /calculated_mol_wt=47808
     CDS             1..450
                     /gene="MTHFD2L"
                     /coded_by="XM_054350069.1:4272..5624"
                     /db_xref="GeneID:441024"
                     /db_xref="HGNC:HGNC:31865"
                     /db_xref="MIM:614047"
ORIGIN      
        1 mgmpaicwlg agpsrqatlh astssegpgl gswprplrtr hsvssvpgpg nrslshsacl
       61 pepgwealla alparvraep glqprglesr evepqsgsrg saamtvpvrg fsllrgrlgr
      121 apalgrstap svrapgepgs afrgfrssgv rheaiiisgt emakhiqkei qrgveswvsl
      181 gnrrphlsii lvgdnpasht yvrnkiraas avgicselil kpkdvsqeel ldvtdqlnmd
      241 prvsgilvql plpdhvdert icngiapekd vdgfhiinig rlcldqhsli patasavwei
      301 ikrtgiqtfg knvvvagrsk nvgmpiamll htdgeherpg gdatvtiahr ytpkeqlkih
      361 tqladiiiva agipklitsd mvkegaavid vginyvhdpv tgktklvgdv dfeavkkkag
      421 fitpvpggvg pmtvamllkn tllaakkiiy
//
LOCUS       XP_054206429             701 aa            linear   PRI 20-MAR-2023
DEFINITION  BMP-2-inducible protein kinase isoform X7 [Homo sapiens].
ACCESSION   XP_054206429
VERSION     XP_054206429.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350454.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..701
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..701
                     /product="BMP-2-inducible protein kinase isoform X7"
                     /calculated_mol_wt=77765
     CDS             1..701
                     /gene="BMP2K"
                     /gene_synonym="BIKE; HRIHFB2017"
                     /coded_by="XM_054350454.1:170..2275"
                     /db_xref="GeneID:55589"
                     /db_xref="HGNC:HGNC:18041"
                     /db_xref="MIM:617648"
ORIGIN      
        1 mkkfsrmpks eggsgggaag ggaggagaga gcgsggssvg vrvfavgrhq vtleeslaeg
       61 tgarggqagg fstvflvrth ggircalkrm yvnnmpdlnv ckreitimke lsghknivgy
      121 ldcavnsisd nvwevlilme ycragqvvnq mnkklqtgft epevlqifcd tceavarlhq
      181 cktpiihrdl kvenillndg gnyvlcdfgs atnkflnpqk dgvnvveeei kkyttlsyra
      241 peminlyggk pittkadiwa lgcllyklcf ftlpfgesqv aicdgnftip dnsrysrnih
      301 clirfmlepd pehrpdifqv syfafkfakk dcpvsninns sipsalpepm taseaaarks
      361 qikaritdti gptetsiapr qrpkansatt atpsvltiqs satpvkvlap gefgnhrpkg
      421 alrpgngpei llgqgppqqp pqqhrvlqql qqgdwrlqql hlqhrhphqq qqqqqqqqqq
      481 qqqqqqqqqq qqqqqhhhhh hhhllqdaym qqyqhatqqq qmlqqqflmh svyqpqpsas
      541 qyptmmpqyq qaffqqqmla qhqpsqqqas peyltspqef spalvsytss lpaqvgtimd
      601 ssysanrsva dkeaianftn qknisnppdm sgwnpfgedn fsklteeell drefdllrsn
      661 rleerassdk nvdslsaphn hppedpfgsv pfishsgklh m
//
LOCUS       XP_054207052             592 aa            linear   PRI 20-MAR-2023
DEFINITION  actin-binding LIM protein 2 isoform X31 [Homo sapiens].
ACCESSION   XP_054207052
VERSION     XP_054207052.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351077.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..592
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..592
                     /product="actin-binding LIM protein 2 isoform X31"
                     /calculated_mol_wt=65346
     CDS             1..592
                     /gene="ABLIM2"
                     /coded_by="XM_054351077.1:99..1877"
                     /db_xref="GeneID:84448"
                     /db_xref="HGNC:HGNC:19195"
                     /db_xref="MIM:612544"
ORIGIN      
        1 mgvpggdtvs qpqaapsple kspstailcn tcgnvckgev lrvqdkyfhi kcfvckacgc
       61 dlaeggffvr qgeyictldy qrlygtrcfs cdqfiegevv salgktyhpd cfvcavcrlp
      121 fppgdrvtfn gkecmcqkcs lpvsvgssah lsqglrscgg cgteikngqa lvaldkhwhl
      181 gcfkckscgk llnaeyiskd glpyceadyh akfgircdsc ekyitgrvle agekhyhpsc
      241 alcvrcgqmf aegeemylqg ssiwhpacrq aartedrnke trtssesiis vpasstsgsp
      301 srviyaklgg eildyrdlaa lpkskaiydi drpdmisysp yishsagdrq sygegdqddr
      361 sykqcrtssp sstgsvslgr ytptsrspqh ysrpagtvsv gtssclslsq hpsptsvfrh
      421 hyipyfrgse sgrstpslsv lsdskpppst yqqaprhfhv paarrsdged gsldqdnrkk
      481 sswlmlkgda dtrtnspdld tqslshssgt drdplqrmag dsfhsqykiy pydslivtnr
      541 irvklpkdvd rtrlerhlsp eefqevfgms ieefdrlalw krndlkkkal lf
//
LOCUS       XP_054207542             162 aa            linear   PRI 20-MAR-2023
DEFINITION  clathrin light chain B isoform X1 [Homo sapiens].
ACCESSION   XP_054207542
VERSION     XP_054207542.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351567.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..162
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..162
                     /product="clathrin light chain B isoform X1"
                     /calculated_mol_wt=18520
     CDS             1..162
                     /gene="CLTB"
                     /gene_synonym="LCB"
                     /coded_by="XM_054351567.1:152..640"
                     /db_xref="GeneID:1212"
                     /db_xref="HGNC:HGNC:2091"
                     /db_xref="MIM:118970"
ORIGIN      
        1 mgttvngdvf qeangpadgy aaiaqadrlt qepesirkwr eeqrkrlqel daaskvteqe
       61 wrekakkdle ewnqrqseqv eknkinnria dkafyqqpda diigyvasee afvkeskeet
      121 pgtewekvaq lcdfnpkssk qckdvsrlrs vlmslkqtpl sr
//
LOCUS       XP_054210518            1009 aa            linear   PRI 20-MAR-2023
DEFINITION  protein broad-minded isoform X12 [Homo sapiens].
ACCESSION   XP_054210518
VERSION     XP_054210518.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354543.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1009
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1009
                     /product="protein broad-minded isoform X12"
                     /calculated_mol_wt=115266
     CDS             1..1009
                     /gene="TBC1D32"
                     /gene_synonym="BROMI; C6orf170; C6orf171"
                     /coded_by="XM_054354543.1:51..3080"
                     /db_xref="GeneID:221322"
                     /db_xref="HGNC:HGNC:21485"
                     /db_xref="MIM:615867"
ORIGIN      
        1 mahfssedqa mlqamlrrlf qsvkekitga pslecaeeil lhleetdenf hnyefvkylr
       61 qhigntlgsm ieeemekcts drnqgeecgy dtvvqqvtkr tqeskeykem mhylknimia
      121 vvesminkfe edetrnqerq kkiqkekshs yrtdncsdsd sslnqsykfc qgklqlildq
      181 ldpgqpkevr yealqtlcsa ppsdvlncen wttlcekltv slsdpdpvfs drilkfcaqt
      241 fllsplhmtk eiytslakyl esyflsrenh iptlsagvdi tnpnmtrllk kvrllneyqk
      301 eapsfwirhp ekymeeives tlslltvkhn qshvvsqkil dpiyffalvd tkavwfkkwm
      361 hahysrttvl rllekkyksl vttaiqqcvq yfemcktrka detlghskhc rnkqktfyyl
      421 gqelqyiyfi hslcllgrll iykqgrklfp iklknkkglv slidllvlft qliyyspscp
      481 kmtsaahsen yspasmvtev lwilsdqkec aveclynniv ietllqpihn lmkgneaspn
      541 csetalihia gilariasve eglilllyga nmnsseespt gahiiaqfsk klldedisvf
      601 sgsemlpvvk gafisvcrhi ystceglqvl itynlhesia kawkktslls eriptpvegs
      661 dsvssvsqes qnimawednl lddllhfaat pkgllllqrt gainecvtfi fnryakklqv
      721 srhkkfgygv lvtrvastaa ggialkksgf inelitelws nleygrddvr vthprttpvd
      781 pidrscqksf lalvnllsyp aiyelvrnqd lpnkteyslr evptcvidii drliilnsea
      841 kirslfnyeq shifglrlls viccdldtll lleaqyqvse mllnaqeeni leiseshrdf
      901 iidglsvern hvlvrinlvg gplerilppr lleksdnpyp wpmfssyplp ncylsditrn
      961 agikqemgpk nkntifcvsg amqrsviyvq kistsilfgs qqnlriklk
//
LOCUS       XP_054212146             171 aa            linear   PRI 20-MAR-2023
DEFINITION  AN1-type zinc finger protein 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054212146
VERSION     XP_054212146.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356171.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..171
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..171
                     /product="AN1-type zinc finger protein 3 isoform X2"
                     /calculated_mol_wt=18500
     CDS             1..171
                     /gene="ZFAND3"
                     /gene_synonym="TEX27"
                     /coded_by="XM_054356171.1:220..735"
                     /db_xref="GeneID:60685"
                     /db_xref="HGNC:HGNC:18019"
                     /db_xref="MIM:607455"
ORIGIN      
        1 mgdagsersk apslpprcpc gfwgssktmn lcskcfadfq kkqpdddsap stsnsqsdlf
       61 seettsdnnn tsittptlsp sqqplpteln vtspskeecg pctdtahvsl itptkrscgt
      121 gyvfcmlhrl peqhdctfdh mgrgreeaim kmvkldrkvg rscqrigegc s
//
LOCUS       XP_054213405             701 aa            linear   PRI 20-MAR-2023
DEFINITION  elastin isoform X12 [Homo sapiens].
ACCESSION   XP_054213405
VERSION     XP_054213405.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357430.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..701
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..701
                     /product="elastin isoform X12"
                     /calculated_mol_wt=60763
     CDS             1..701
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /coded_by="XM_054357430.1:16..2121"
                     /db_xref="GeneID:2006"
                     /db_xref="HGNC:HGNC:3327"
                     /db_xref="MIM:130160"
ORIGIN      
        1 magltaaapr pgvlllllsi lhpsrpggvp gaipggvpgg vfypalgpgg kplkpvpggl
       61 agaglgaglg afpavtfpga lvpggvadaa aaykaakaga glggvpgvgg lgvsaapsvp
      121 gavvpqpgag vkpgkvpgvg lpgvypggvl pgarfpgvgv lpgvptgagv kpkapgvgga
      181 fagipgvgpf ggpqpgvplg ypikapklpg gyglpyttgk lpygygpggv agaagkagyp
      241 tgtgvgpqaa aaaaakaaak fgagaagvlp gvggagvpgv pgaipgiggi agvgtpaaaa
      301 aaaaaakaak ygaaaglvpg gpgfgpgvvg vpgagvpgvg vpgagipvvp gagipgaavp
      361 gvvspeaaak aaakaakyga rpgvgvggip tygvgaggfp gfgvgvggip gvagvpgvgg
      421 vpgvggvpgv gispeaqaaa aakaakygvg tpaaaaakaa akaaqfglvp gvgvapgvgv
      481 apgvgvapgv glapgvgvap gvgvapgvgv apgigpggva aaaksaakva akaqlraaag
      541 lgagipglgv gvgvpglgvg agvpglgvga gvpgfgavpg alaaakaaky gaavpgvlgg
      601 lgalggvgip ggvvgagpaa aaaaakaaak aaqfglvgaa glgglgvggl gvpgvgglgg
      661 ippaaaakaa kygvaarpgf glspifpgga clgkacgrkr k
//
LOCUS       XP_054214870             159 aa            linear   PRI 20-MAR-2023
DEFINITION  single-stranded DNA-binding protein, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_054214870
VERSION     XP_054214870.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358895.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..159
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..159
                     /product="single-stranded DNA-binding protein,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=18427
     CDS             1..159
                     /gene="SSBP1"
                     /gene_synonym="Mt-SSB; mtSSB; OPA13; SOSS-B1; SSBP"
                     /coded_by="XM_054358895.1:317..796"
                     /db_xref="GeneID:6742"
                     /db_xref="HGNC:HGNC:11317"
                     /db_xref="MIM:600439"
ORIGIN      
        1 mfrrpvlqvl rqfvrheset ttslvlersl nrvhllgrvg qdpvlrqveg knpvtifsla
       61 tnemwrsgds evyqlgdvsq kttwhrisvf rpglrdvayq yvkkgsriyl egkidygeym
      121 dknnvrrqat tiiagkklvk iavffffsfs flkawlhcn
//
LOCUS       XP_054215512             253 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-protein thioesterase 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054215512
VERSION     XP_054215512.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359537.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..253
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..253
                     /product="acyl-protein thioesterase 1 isoform X2"
                     /calculated_mol_wt=27715
     CDS             1..253
                     /gene="LYPLA1"
                     /gene_synonym="APT-1; APT1; hAPT1; LPL-I; LPL1"
                     /coded_by="XM_054359537.1:158..919"
                     /db_xref="GeneID:10434"
                     /db_xref="HGNC:HGNC:6737"
                     /db_xref="MIM:605599"
ORIGIN      
        1 mrwlmpvisa lweveaggsp evrssgpawp twrnpistkn tkisqagvqw hstlvaqyns
       61 hlslpssldy rhgwaeafag irsshikyic phapvrpvtl nmnvampswf diiglspdsq
      121 edesgikqaa enikalidqe vkngipsnri ilggfsqgga lslytalttq qklagvtals
      181 cwlplrasfp qchgdcdplv plmfgsltve klktlvnpan vtfktyegmm hsscqqemmd
      241 vkqfidkllp pid
//
LOCUS       XP_054216686             181 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA polymerase beta isoform X5 [Homo sapiens].
ACCESSION   XP_054216686
VERSION     XP_054216686.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360711.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..181
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..181
                     /product="DNA polymerase beta isoform X5"
                     /calculated_mol_wt=20695
     CDS             1..181
                     /gene="POLB"
                     /coded_by="XM_054360711.1:536..1081"
                     /db_xref="GeneID:5423"
                     /db_xref="HGNC:HGNC:9174"
                     /db_xref="MIM:174760"
ORIGIN      
        1 mlqmqdivln evkkvdseyi atvcgsfrrg aessgdmdvl lthpsftses tkqpkllhqv
       61 veqlqkvhfi tdtlskgetk fmgvcqlpsk ndekeyphrr idirlipkdq yycgvlyftg
      121 sdifnknmra halekgftin eytirplgvt gvageplpvd sekdifdyiq wkyrepkdrs
      181 e
//
LOCUS       XP_054216990             753 aa            linear   PRI 20-MAR-2023
DEFINITION  FHF complex subunit HOOK interacting protein 2B isoform X1 [Homo
            sapiens].
ACCESSION   XP_054216990
VERSION     XP_054216990.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361015.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..753
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..753
                     /product="FHF complex subunit HOOK interacting protein 2B
                     isoform X1"
                     /calculated_mol_wt=83286
     CDS             1..753
                     /gene="FHIP2B"
                     /gene_synonym="FAI16; FAM160B2; RAI16; RAM160B2"
                     /coded_by="XM_054361015.1:105..2366"
                     /db_xref="GeneID:64760"
                     /db_xref="HGNC:HGNC:16492"
                     /db_xref="MIM:620230"
ORIGIN      
        1 mlsrlgallq eavgarepsi dllqafvehw kgithyyies tdestpakkt dipwrlkqml
       61 dilvyeeqqq aaageagpcl eyllqhkile tlctlgkaey ppgmrqqvfq ffskvlaqvq
      121 hpllhylsvh rpvqkllrlg gtasgsvtek eevqfttvlc skiqqdpell ayilegkkiv
      181 grkkacgept alpkdttshg dkdcshdgap arpqldgesc gaqalnshmp aeteeldggt
      241 tesnlitsll glcqskksrv alkaqenlll lvsmaspaaa tylvqssacc paivrhlcql
      301 yrsmpvfldp adiatlegis wrlpsapsde asfpgkeala aflgwfdycd hliteahtvv
      361 adalakavae nffvetlqpq llhvseqsil tstalltaml rqlrspallr eavafllgtd
      421 rqpeapgdnp htlyahligh cdhlsdeisi ttlrlfeell qkphegiihs lvlrnlegrp
      481 yvawgspepe syedtldlee dpyftdsfld sgfqtpakpr lapatsydgk tavteivnsf
      541 lclvpeeakt safleetgyd tyvhdayglf qecssrvasw gwpltptpld pheperpffe
      601 ghflrvlfdr msrildqpsa lstmflqpys lnlqvtsvls rlalfphphi heylldpyis
      661 lapgcrslfs vlvrvigdlm qriqrvpqfp gklllvrkql tgqapgeqld hqtllqgvvv
      721 leefckelaa iafvkfpphd prqnvspape gqv
//
LOCUS       XP_054217051             475 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase 3 isoform X6 [Homo sapiens].
ACCESSION   XP_054217051
VERSION     XP_054217051.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361076.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..475
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..475
                     /product="serine/threonine-protein kinase 3 isoform X6"
                     /calculated_mol_wt=53856
     CDS             1..475
                     /gene="STK3"
                     /gene_synonym="KRS1; MST2"
                     /coded_by="XM_054361076.1:149..1576"
                     /db_xref="GeneID:6788"
                     /db_xref="HGNC:HGNC:11406"
                     /db_xref="MIM:605030"
ORIGIN      
        1 meqppapksk lkklsedslt kqpeevfdvl eklgegsygs vfkaihkesg qvvaikqvpv
       61 esdlqeiike isimqqcdsp yvvkyygsyf kntdlwivme ycgagsvsdi irlrnktlie
      121 deiatilkst lkgleylhfm rkihrdikag nillntegha kladfgvagq ltdtmakrnt
      181 vigtpfwmap eviqeigync vadiwslgit siemaegkpp yadihpmrai fmiptnpppt
      241 frkpelwsdd ftdfvkkclv knpeqratat qllqhpfikn akpvsilrdl iteameikak
      301 rheeqqrele eeeensdede ldshtmvkts vesvgtmrat stmsegaqtm iehnstmles
      361 dlgtmvinse deeeedgtmk rnatspqvqr psfmdyfdkq dfknkshenc nqnmhepfpm
      421 sknvfpdnwk vpqdgdfdfi epywaradfp lprlwplasa vifnrstngg qevts
//
LOCUS       XP_054218004            1403 aa            linear   PRI 20-MAR-2023
DEFINITION  calmodulin-regulated spectrin-associated protein 1 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054218004
VERSION     XP_054218004.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362029.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1403
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1403
                     /product="calmodulin-regulated spectrin-associated protein
                     1 isoform X5"
                     /calculated_mol_wt=155658
     CDS             1..1403
                     /gene="CAMSAP1"
                     /coded_by="XM_054362029.1:560..4771"
                     /db_xref="GeneID:157922"
                     /db_xref="HGNC:HGNC:19946"
                     /db_xref="MIM:613774"
ORIGIN      
        1 mreitekevk lkqqllespa hqkvryrreh lsarqspyfp lledlmrdgs dgaallavih
       61 yycpeqmkld diclkevtsm adslynirll refsneylnk cfyltledml yaplvlkpnv
      121 mvfiaelfww fenvkpdfvq prdvqelkda ktvlhqkssr ppvpisnatk rsflgspaag
      181 tlaelqppvq lpaegchrhy lhpeepeylg kgtaafspsh pllplrqkqq ksiqgedipd
      241 qrhrsnsltr vdgqprgaai awpekktrpa sqptpfalhh aascevdpss gdsislarsi
      301 skdslasniv nltpqnqphp tatkshgksl lsnvsiedee eelvaivrad vvpqqadpef
      361 praspralgl tanarspqgq ldtseskpds ffleplmpav lkpakekqvi tkedergegr
      421 prsivsrrps egpqplvrrk mtgsrdlnrt ftpipcsefp mgidptetgp lsvetagevc
      481 ggplalggfd pfpqgpstdg fflhvgrade dtegrlyvsc skspnshdse pwtllrqdsd
      541 sdvvdieeae hdfmgeahpv vfsryigeee saklqedmkv kehedkddas grsspclsta
      601 sqmssvsmas gsvkmtsfae rklqrlnsce tksstsssqk ttpdasescp aplttwrqkr
      661 eqspsqhgkd pasllaselv qlhmqleekr raieaqkkkm ealsarqrlk lgkaaflhvv
      721 kkgkaeaapp lrpehfakey sqhngedcgd avsktedflv keeqreellh epqdvdkesl
      781 afaqqhkakd pvalhelern kvisaalled tvgevvdvne cdlsieklne tistlqqail
      841 kisqqqeqll mksptvpvpg sknnsqdhkv kapvhfvepl sptgvaghrk aprlgqgrns
      901 rsgrpaelkv pkdrpqgssr sktptpsvet lphlrpfpas shprtptdpg ldsalepsgd
      961 phgkclfdsy rlhdesnqrt ltlssskdan ilseqmslke vldasvkevg ssssdvsgke
     1021 svpveeplrs raslievdls dlkapdedge lvsldgsadl vsegdqkpgv gfffkdeqka
     1081 edelakkraa fllkqqrkae earvrkqqle aevelkrdea rrkaeedrvr keeekarrel
     1141 ikqeylrrkq qqileeqglg kpkskpkkpr pksvhreesc sdsgtkcsst pdnlsrtqsg
     1201 sslslasaat tepesvhsgg tpsqrvesme alpilsrnps rstdrdweta saasslasva
     1261 eytgpklfke pssksnkpii hnaishccla gkvnephkns ileelekcda nhyiilfrda
     1321 gcqfralycy ypdteeiykl tgtgpknitk kmidklykys sdrkqfnlip aktmsvsvda
     1381 ltihnhlwqp krpavpkkaq trk
//
LOCUS       XP_054218873            1564 aa            linear   PRI 20-MAR-2023
DEFINITION  tenascin isoform X22 [Homo sapiens].
ACCESSION   XP_054218873
VERSION     XP_054218873.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362898.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1564
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1564
                     /product="tenascin isoform X22"
                     /calculated_mol_wt=171258
     CDS             1..1564
                     /gene="TNC"
                     /gene_synonym="150-225; DFNA56; GMEM; GP; HXB; JI; TN;
                     TN-C"
                     /coded_by="XM_054362898.1:417..5111"
                     /db_xref="GeneID:3371"
                     /db_xref="HGNC:HGNC:5318"
                     /db_xref="MIM:187380"
ORIGIN      
        1 mgamtqllag vflaflalat eggvlkkvir hkrqsgvnat lpeenqpvvf nhvyniklpv
       61 gsqcsvdles asgekdlapp sepsesfqeh tvdgenqivf thriniprra cgcaaapdvk
      121 ellsrleele nlvsslreqc tagagcclqp atgrldtrpf csgrgnfste gcgcvcepgw
      181 kgpncsepec pgnchlrgrc idgqcicddg ftgedcsqla cpsdcndqgk cvngvcicfe
      241 gyagadcsre icpvpcseeh gtcvdglcvc hdgfagddcn kplclnncyn rgrcvenecv
      301 cdegftgedc selicpndcf drgrcingtc yceegftged cgkptcphac htqgrceegq
      361 cvcdegfagv dcsekrcpad chnrgrcvdg rcecddgftg adcgelkcpn gcsghgrcvn
      421 gqcvcdegyt gedcsqlrcp ndchsrgrcv egkcvceqgf kgydcsdmsc pndchqhgrc
      481 vngmcvcddg ytgedcrdrq cprdcsnrgl cvdgqcvced gftgpdcael scpndchgqg
      541 rcvngqcvch egfmgkdcke qrcpsdchgq grcvdgqcic hegftgldcg qhscpsdcnn
      601 lgqcvsgrci cnegysgedc sevsppkdlv vtevteetvn lawdnemrvt eylvvytpth
      661 egglemqfrv pgdqtstiir elepgveyfi rvfailenkk sipvsarvat ylpapeglkf
      721 ksiketsvev ewdpldiafe tweiifrnmn kedegeitks lrrpetsyrq tglapgqeye
      781 islhivknnt rgpglkrvtt trldapsqie vkdvtdttal itwfkplaei dgieltygik
      841 dvpgdrttid ltedenqysi gnlkpdteye vslisrrgdm ssnpaketft tgldaprnlr
      901 rvsqtdnsit lewrngkaai dsyrikyapi sggdhaevdv pksqqattkt tltglrpgte
      961 ygigvsavke dkesnpatin aateldtpkd lqvsetaets ltllwktpla kfdryrlnys
     1021 lptgqwvgvq lprnttsyvl rglepgqeyn vlltaekgrh kskparvkas tamgspkevi
     1081 fsditensat vswraptaqv esfrityvpi tggtpsmvtv dgtktqtrlv klipgveylv
     1141 siiamkgfee sepvsgsftt aldgpsglvt anitdseala rwqpaiatvd syvisytgek
     1201 vpeitrtvsg ntveyaltdl epateytlri faekgpqkss titakfttdl dsprdltate
     1261 vqsetalltw rpprasvtgy llvyesvdgt vkevivgpdt tsysladlsp sthytakiqa
     1321 lngplrsnmi qtifttigll ypfpkdcsqa mlngdttsgl ytiylngdka ealevfcdmt
     1381 sdgggwivfl rrkngrenfy qnwkayaagf gdrreefwlg ldnlnkitaq gqyelrvdlr
     1441 dhgetafavy dkfsvgdakt ryklkvegys gtagdsmayh ngrsfstfdk dtdsaitnca
     1501 lsykgafwyr nchrvnlmgr ygdnnhsqgv nwfhwkgheh siqfaemklr psnfrnlegr
     1561 rkra
//
LOCUS       XP_054182713             329 aa            linear   PRI 20-MAR-2023
DEFINITION  putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase
            isoform X3 [Homo sapiens].
ACCESSION   XP_054182713
VERSION     XP_054182713.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326738.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..329
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..329
                     /product="putative tRNA
                     (cytidine(32)/guanosine(34)-2'-O)-methyltransferase
                     isoform X3"
                     /calculated_mol_wt=35948
     CDS             1..329
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /coded_by="XM_054326738.1:392..1381"
                     /db_xref="GeneID:24140"
                     /db_xref="HGNC:HGNC:13254"
                     /db_xref="MIM:300499"
ORIGIN      
        1 mgrtskdkrd vyyrlakeng wrarsafkll qldkefqlfq gvtravdlca apgswsqvls
       61 qkiggqgsgh vvavdlqama plpgvvqiqg ditqlstake iiqhfkgcpa dlvvcdgapd
      121 vtglhdvdey mqaqlllaal niathvlkpg gcfvakifrg rdvtllysql qvffssvlca
      181 kprssrnssi eafavcqgyd ppegfipdls kplldhsydp dfnqldgptr iivpfvtcgd
      241 lssydsdrsy pldleggsey kytpptqppi sppyqeactl krkgqlakei rpqdcpisrv
      301 dtfpqplaap qchtllapem ednemscsp
//
LOCUS       NP_001354451             571 aa            linear   PRI 23-MAR-2023
DEFINITION  calcium/calmodulin-dependent protein kinase type II subunit gamma
            isoform 15 [Homo sapiens].
ACCESSION   NP_001354451 XP_016872214
VERSION     NP_001354451.1
DBSOURCE    REFSEQ: accession NM_001367522.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 571)
  AUTHORS   Gurd BJ, Menezes ES, Arhen BB and Islam H.
  TITLE     Impacts of altered exercise volume, intensity, and duration on the
            activation of AMPK and CaMKII and increases in PGC-1alpha mRNA
  JOURNAL   Semin Cell Dev Biol 143, 17-27 (2023)
   PUBMED   35680515
  REMARK    GeneRIF: Impacts of altered exercise volume, intensity, and
            duration on the activation of AMPK and CaMKII and increases in
            PGC-1alpha mRNA.
            Review article
REFERENCE   2  (residues 1 to 571)
  AUTHORS   Miyauchi M, Sasaki K, Kagoya Y, Taoka K, Masamoto Y, Yamazaki S,
            Arai S, Mizuno H and Kurokawa M.
  TITLE     CAMK2G is identified as a novel therapeutic target for
            myelofibrosis
  JOURNAL   Blood Adv 6 (5), 1585-1597 (2022)
   PUBMED   34521112
  REMARK    GeneRIF: CAMK2G is identified as a novel therapeutic target for
            myelofibrosis.
REFERENCE   3  (residues 1 to 571)
  AUTHORS   Lopez X, Palacios-Prado N, Guiza J, Escamilla R, Fernandez P, Vega
            JL, Rojas M, Marquez-Miranda V, Chamorro E, Cardenas AM, Maldifassi
            MC, Martinez AD, Duarte Y, Gonzalez-Nilo FD and Saez JC.
  TITLE     A physiologic rise in cytoplasmic calcium ion signal increases
            pannexin1 channel activity via a C-terminus phosphorylation by
            CaMKII
  JOURNAL   Proc Natl Acad Sci U S A 118 (32) (2021)
   PUBMED   34301850
  REMARK    GeneRIF: A physiologic rise in cytoplasmic calcium ion signal
            increases pannexin1 channel activity via a C-terminus
            phosphorylation by CaMKII.
REFERENCE   4  (residues 1 to 571)
  AUTHORS   Gu J, Wang X, Zhang L, Xiang J, Li J, Chen Z, Zhang Y, Chen J and
            Shen J.
  TITLE     Matrine suppresses cell growth of diffuse large B-cell lymphoma via
            inhibiting CaMKIIgamma/c-Myc/CDK6 signaling pathway
  JOURNAL   BMC Complement Med Ther 21 (1), 163 (2021)
   PUBMED   34088288
  REMARK    GeneRIF: Matrine suppresses cell growth of diffuse large B-cell
            lymphoma via inhibiting CaMKIIgamma/c-Myc/CDK6 signaling pathway.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 571)
  AUTHORS   Jeong J, Li Y and Roche KW.
  TITLE     CaMKII Phosphorylation Regulates Synaptic Enrichment of Shank3
  JOURNAL   eNeuro 8 (3) (2021)
   PUBMED   33568460
  REMARK    GeneRIF: CaMKII Phosphorylation Regulates Synaptic Enrichment of
            Shank3.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 571)
  AUTHORS   Wen Z, Zhong Z and Darnell JE Jr.
  TITLE     Maximal activation of transcription by Stat1 and Stat3 requires
            both tyrosine and serine phosphorylation
  JOURNAL   Cell 82 (2), 241-250 (1995)
   PUBMED   7543024
REFERENCE   7  (residues 1 to 571)
  AUTHORS   Countaway JL, Nairn AC and Davis RJ.
  TITLE     Mechanism of desensitization of the epidermal growth factor
            receptor protein-tyrosine kinase
  JOURNAL   J Biol Chem 267 (2), 1129-1140 (1992)
   PUBMED   1309762
REFERENCE   8  (residues 1 to 571)
  AUTHORS   Ikebe M and Reardon S.
  TITLE     Phosphorylation of smooth myosin light chain kinase by smooth
            muscle Ca2+/calmodulin-dependent multifunctional protein kinase
  JOURNAL   J Biol Chem 265 (16), 8975-8978 (1990)
   PUBMED   2160950
REFERENCE   9  (residues 1 to 571)
  AUTHORS   Czernik AJ, Pang DT and Greengard P.
  TITLE     Amino acid sequences surrounding the cAMP-dependent and
            calcium/calmodulin-dependent phosphorylation sites in rat and
            bovine synapsin I
  JOURNAL   Proc Natl Acad Sci U S A 84 (21), 7518-7522 (1987)
   PUBMED   3118371
REFERENCE   10 (residues 1 to 571)
  AUTHORS   Vulliet,P.R., Woodgett,J.R. and Cohen,P.
  TITLE     Phosphorylation of tyrosine hydroxylase by calmodulin-dependent
            multiprotein kinase
  JOURNAL   J Biol Chem 259 (22), 13680-13683 (1984)
   PUBMED   6150037
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL596247.22, AL713896.9 and
            AC022400.9.
            On Dec 5, 2018 this sequence version replaced XP_016872214.1.
            
            Summary: The product of this gene is one of the four subunits of an
            enzyme which belongs to the serine/threonine protein kinase family,
            and to the Ca(2+)/calmodulin-dependent protein kinase subfamily.
            Calcium signaling is crucial for several aspects of plasticity at
            glutamatergic synapses. In mammalian cells the enzyme is composed
            of four different chains: alpha, beta, gamma, and delta. The
            product of this gene is a gamma chain. Many alternatively spliced
            transcripts encoding different isoforms have been described but the
            full-length nature of all the variants has not been
            determined.[provided by RefSeq, Mar 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.227357.1,
                                           SRR1803614.265811.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..571
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.2"
     Protein         1..571
                     /product="calcium/calmodulin-dependent protein kinase type
                     II subunit gamma isoform 15"
                     /EC_number="2.7.11.17"
                     /note="calcium/calmodulin-dependent protein kinase (CaM
                     kinase) II gamma; calcium/calmodulin-dependent protein
                     kinase type II subunit gamma; caMK-II subunit gamma"
                     /calculated_mol_wt=63369
     Region          12..303
                     /region_name="STKc_CaMKII"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Calcium/calmodulin-dependent protein kinase Type II;
                     cd14086"
                     /db_xref="CDD:270988"
     Site            order(20..24,28,41,43,74,90..93,97,99,135..136,138,
                     140..141,143,156..157,160,175..179,181)
                     /site_type="active"
                     /db_xref="CDD:270988"
     Site            order(20..23,28,41,43,74,90..93,97,140..141,143,156..157)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270988"
     Site            order(24,97,99,135..136,138,140,160,175..179,181)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270988"
     Site            order(156..166,169..179)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270988"
     Site            order(294,296..303)
                     /site_type="other"
                     /note="CaM binding site [polypeptide binding]"
                     /db_xref="CDD:270988"
     Region          412..>467
                     /region_name="NTF2_like"
                     /note="Nuclear transport factor 2 (NTF2-like) superfamily.
                     This family includes members of the NTF2 family,
                     Delta-5-3-ketosteroid isomerases, Scytalone Dehydratases,
                     and the beta subunit of Ring hydroxylating dioxygenases.
                     This family is a classic example of...; cl09109"
                     /db_xref="CDD:447678"
     CDS             1..571
                     /gene="CAMK2G"
                     /gene_synonym="CAMK; CAMK-II; CAMKG; MRD59"
                     /coded_by="NM_001367522.1:95..1810"
                     /note="isoform 15 is encoded by transcript variant 15"
                     /db_xref="GeneID:818"
                     /db_xref="HGNC:HGNC:1463"
                     /db_xref="MIM:602123"
ORIGIN      
        1 mattatctrf tddyqlfeel gkgafsvvrr cvkktstqey aakiintkkl sardhqkler
       61 earicrllkh pnivrlhdsi seegfhylvf dlvtggelfe divareyyse adashcihqi
      121 lesvnhihqh divhrdlkpe nlllaskckg aavkladfgl aievqgeqqa wfgfagtpgy
      181 lspevlrkdp ygkpvdiwac gvilyillvg yppfwdedqh klyqqikaga ydfpspewdt
      241 vtpeaknlin qmltinpakr itadqalkhp wvcqrstvas mmhrqetvec lrkfnarrkl
      301 kgailttmlv srnfsaaksl lnkksdggvk krkssssvhl mepqttvvhn atdgikgste
      361 scnttteded lkaaplrtgn gssvpegrss rdrtapsagm qpqpslcssa mrkqeiikit
      421 eqlieainng dfeaytkicd pgltsfepea lgnlvegmdf hkfyfenrew vraadillpa
      481 plplclclll tfssqlptfp lfdlraalll cmlvplcpdg crqaplkall lsskchsfcs
      541 cfvavpvtti kltyflpgav ayacnpntlg g
//
LOCUS       NP_001138528             704 aa            linear   PRI 23-MAR-2023
DEFINITION  choline transporter-like protein 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001138528
VERSION     NP_001138528.1
DBSOURCE    REFSEQ: accession NM_001145056.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 704)
  AUTHORS   Koehl B, Vrignaud C, Mikdar M, Nair TS, Yang L, Landry S,
            Laiguillon G, Giroux-Lathuile C, Anselme-Martin S, El Kenz H,
            Hermine O, Mohandas N, Cartron JP, Colin Y, Detante O, Marlu R, Le
            Van Kim C, Carey TE, Azouzi S and Peyrard T.
  TITLE     Lack of the human choline transporter-like protein SLC44A2 causes
            hearing impairment and a rare red blood phenotype
  JOURNAL   EMBO Mol Med 15 (3), e16320 (2023)
   PUBMED   36695047
  REMARK    GeneRIF: Lack of the human choline transporter-like protein SLC44A2
            causes hearing impairment and a rare red blood phenotype.
REFERENCE   2  (residues 1 to 704)
  AUTHORS   Zirka G, Robert P, Tilburg J, Tishkova V, Maracle CX, Legendre P,
            van Vlijmen BJM, Alessi MC, Lenting PJ, Morange PE and Thomas GM.
  TITLE     Impaired adhesion of neutrophils expressing Slc44a2/HNA-3b to VWF
            protects against NETosis under venous shear rates
  JOURNAL   Blood 137 (16), 2256-2266 (2021)
   PUBMED   33556175
  REMARK    GeneRIF: Impaired adhesion of neutrophils expressing Slc44a2/HNA-3b
            to VWF protects against NETosis under venous shear rates.
REFERENCE   3  (residues 1 to 704)
  AUTHORS   Zhi L, Feng W, Liang J, Zhong Q, Ren L, Ma J and Yao S.
  CONSRTM   Liqiang Zhi, Weilou Feng and Jingqi Liang contributed equally to
            this work
  TITLE     The Effect of Common Variants in SLC44A2 on the Contribution to the
            Risk of Deep Cein Thrombosis after Orthopedic Surgery
  JOURNAL   J Atheroscler Thromb 28 (3), 293-303 (2021)
   PUBMED   32581188
  REMARK    GeneRIF: The Effect of Common Variants in SLC44A2 on the
            Contribution to the Risk of Deep Cein Thrombosis after Orthopedic
            Surgery.
REFERENCE   4  (residues 1 to 704)
  AUTHORS   Fujita Y, Nagakura T, Uchino H, Inazu M and Yamanaka T.
  TITLE     Functional Expression of Choline Transporters in Human Neural Stem
            Cells and Its Link to Cell Proliferation, Cell Viability, and
            Neurite Outgrowth
  JOURNAL   Cells 10 (2), 453 (2021)
   PUBMED   33672580
  REMARK    GeneRIF: Functional Expression of Choline Transporters in Human
            Neural Stem Cells and Its Link to Cell Proliferation, Cell
            Viability, and Neurite Outgrowth.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 704)
  AUTHORS   Taylor A, Grapentine S, Ichhpuniani J and Bakovic M.
  TITLE     Choline transporter-like proteins 1 and 2 are newly identified
            plasma membrane and mitochondrial ethanolamine transporters
  JOURNAL   J Biol Chem 296, 100604 (2021)
   PUBMED   33789160
  REMARK    GeneRIF: Choline transporter-like proteins 1 and 2 are newly
            identified plasma membrane and mitochondrial ethanolamine
            transporters.
REFERENCE   6  (residues 1 to 704)
  AUTHORS   Kommareddi PK, Nair TS, Raphael Y, Telian SA, Kim AH, Arts HA,
            El-Kashlan HK and Carey TE.
  TITLE     Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the
            inner ear
  JOURNAL   J Assoc Res Otolaryngol 8 (4), 435-446 (2007)
   PUBMED   17926100
  REMARK    GeneRIF: CTL2 is more widely distributed than previously described,
            and its prominent expression on cells facing the scala media
            suggests a possible role in homeostasis.
REFERENCE   7  (residues 1 to 704)
  AUTHORS   Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H,
            Elsasser HP, Mann M and Hasilik A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
REFERENCE   8  (residues 1 to 704)
  AUTHORS   Traiffort E, Ruat M, O'Regan S and Meunier FM.
  TITLE     Molecular characterization of the family of choline
            transporter-like proteins and their splice variants
  JOURNAL   J Neurochem 92 (5), 1116-1125 (2005)
   PUBMED   15715662
REFERENCE   9  (residues 1 to 704)
  AUTHORS   Nair TS, Kozma KE, Hoefling NL, Kommareddi PK, Ueda Y, Gong TW,
            Lomax MI, Lansford CD, Telian SA, Satar B, Arts HA, El-Kashlan HK,
            Berryhill WE, Raphael Y and Carey TE.
  TITLE     Identification and characterization of choline transporter-like
            protein 2, an inner ear glycoprotein of 68 and 72 kDa that is the
            target of antibody-induced hearing loss
  JOURNAL   J Neurosci 24 (7), 1772-1779 (2004)
   PUBMED   14973250
REFERENCE   10 (residues 1 to 704)
  AUTHORS   O'Regan S, Traiffort E, Ruat M, Cha N, Compaore D and Meunier FM.
  TITLE     An electric lobe suppressor for a yeast choline transport mutation
            belongs to a new family of transporter-like proteins
  JOURNAL   Proc Natl Acad Sci U S A 97 (4), 1835-1840 (2000)
   PUBMED   10677542
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA628435.1, BI602883.1, AK027519.1 and AC011475.6.
            
            Transcript Variant: This variant (2) differs in the 5' UTR and 5'
            coding region compared to variant 1. The encoded isoform (2) has a
            shorter, distinct N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.98574.1,
                                           SRR1660809.88876.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..704
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     Protein         1..704
                     /product="choline transporter-like protein 2 isoform 2"
                     /note="choline transporter-like protein 2; solute carrier
                     family 44 (choline transporter), member 2; testicular
                     tissue protein Li 47"
                     /calculated_mol_wt=79716
     Site            12
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IWA5.3)"
     Site            32..52
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA5.3)"
     Site            185
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (Q8IWA5.3)"
     Site            198
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (Q8IWA5.3)"
     Site            231..251
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA5.3)"
     Site            255..275
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA5.3)"
     Site            314..334
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA5.3)"
     Region          335..674
                     /region_name="Choline_transpo"
                     /note="Plasma-membrane choline transporter; pfam04515"
                     /db_xref="CDD:427989"
     Site            363..383
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA5.3)"
     Site            415
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8IWA5.3)"
     Site            456..478
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA5.3)"
     Site            503..523
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA5.3)"
     Site            562..582
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA5.3)"
     Site            598..618
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA5.3)"
     Site            637..657
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWA5.3)"
     CDS             1..704
                     /gene="SLC44A2"
                     /gene_synonym="CTL2; PP1292"
                     /coded_by="NM_001145056.2:77..2191"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS54216.1"
                     /db_xref="GeneID:57153"
                     /db_xref="HGNC:HGNC:17292"
                     /db_xref="MIM:606106"
ORIGIN      
        1 mederkngay gtpqkydptf kgpiynrgct diiccvflll aivgyvavgi iawthgdprk
       61 viyptdsrge fcgqkgtkne nkpylfyfni vkcasplvll efqcptpqic vekcpdrylt
      121 ylnarssrdf eyykqfcvpg fknnkgvaev lqdgdcpavl ipskplarrc fpaihaykgv
      181 lmvgnettye dghgsrknit dlvegakkan gvlearqlam rifedytvsw ywiiiglvia
      241 mamsllfiil lrflagimvw vmiimvilvl gygifhcyme ysrlrgeags dvslvdlgfq
      301 tdfrvylhlr qtwlafmiil sileviiill liflrkrili aialikeasr avgyvmcsll
      361 yplvtffllc lciaywasta vflstsneav ykifddspcp ftaktcnpet fpssnesrqc
      421 pnarcqfafy ggesgyhral lglqifnafm ffwlanfvla lgqvtlagaf asyywalrkp
      481 ddlpafplfs afgralryht gslafgalil aivqiirvil eyldqrlkaa enkfakclmt
      541 clkccfwcle kfikflnrna yimiaiygtn fctsarnaff llmrniirva vldkvtdflf
      601 llgkllivgs vgilafffft hririvqdta pplnyywvpi ltvivgsyli ahgffsvygm
      661 cvdtlflcfl edlerndgsa erpyfmsstl kkllnktnkk aaes
//
LOCUS       NP_001394792            1795 aa            linear   PRI 25-MAR-2023
DEFINITION  breast cancer type 1 susceptibility protein isoform 48 [Homo
            sapiens].
ACCESSION   NP_001394792
VERSION     NP_001394792.1
DBSOURCE    REFSEQ: accession NM_001407863.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1795)
  AUTHORS   Orban TI and Olah E.
  TITLE     Emerging roles of BRCA1 alternative splicing
  JOURNAL   Mol Pathol 56 (4), 191-197 (2003)
   PUBMED   12890739
  REMARK    Review article
REFERENCE   2  (residues 1 to 1795)
  AUTHORS   Orban TI and Olah E.
  TITLE     Expression profiles of BRCA1 splice variants in asynchronous and in
            G1/S synchronized tumor cell lines
  JOURNAL   Biochem Biophys Res Commun 280 (1), 32-38 (2001)
   PUBMED   11162473
REFERENCE   3  (residues 1 to 1795)
  AUTHORS   Paterson JW.
  TITLE     BRCA1: a review of structure and putative functions
  JOURNAL   Dis Markers 13 (4), 261-274 (1998)
   PUBMED   9553742
  REMARK    Review article
REFERENCE   4  (residues 1 to 1795)
  AUTHORS   Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S,
            Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E.
  TITLE     Mutations and alternative splicing of the BRCA1 gene in UK
            breast/ovarian cancer families
  JOURNAL   Genes Chromosomes Cancer 18 (2), 102-110 (1997)
   PUBMED   9115959
REFERENCE   5  (residues 1 to 1795)
  AUTHORS   Wilson CA, Payton MN, Elliott GS, Buaas FW, Cajulis EE, Grosshans
            D, Ramos L, Reese DM, Slamon DJ and Calzone FJ.
  TITLE     Differential subcellular localization, expression and biological
            toxicity of BRCA1 and the splice variant BRCA1-delta11b
  JOURNAL   Oncogene 14 (1), 1-16 (1997)
   PUBMED   9010228
REFERENCE   6  (residues 1 to 1795)
  AUTHORS   Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, Yao J, Farid
            LM, Couch FJ, Wilson RB and Weber BL.
  TITLE     Localization of BRCA1 and a splice variant identifies the nuclear
            localization signal
  JOURNAL   Mol Cell Biol 17 (1), 444-452 (1997)
   PUBMED   8972225
REFERENCE   7  (residues 1 to 1795)
  AUTHORS   Lu M, Conzen SD, Cole CN and Arrick BA.
  TITLE     Characterization of functional messenger RNA splice variants of
            BRCA1 expressed in nonmalignant and tumor-derived breast cells
  JOURNAL   Cancer Res 56 (20), 4578-4581 (1996)
   PUBMED   8840964
REFERENCE   8  (residues 1 to 1795)
  AUTHORS   Holt JT, Thompson ME, Szabo C, Robinson-Benion C, Arteaga CL, King
            MC and Jensen RA.
  TITLE     Growth retardation and tumour inhibition by BRCA1
  JOURNAL   Nat Genet 12 (3), 298-302 (1996)
   PUBMED   8589721
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
REFERENCE   9  (residues 1 to 1795)
  AUTHORS   Xu CF, Brown MA, Chambers JA, Griffiths B, Nicolai H and Solomon E.
  TITLE     Distinct transcription start sites generate two forms of BRCA1 mRNA
  JOURNAL   Hum Mol Genet 4 (12), 2259-2264 (1995)
   PUBMED   8634696
REFERENCE   10 (residues 1 to 1795)
  AUTHORS   Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K,
            Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al.
  TITLE     A strong candidate for the breast and ovarian cancer susceptibility
            gene BRCA1
  JOURNAL   Science 266 (5182), 66-71 (1994)
   PUBMED   7545954
REFERENCE   11 (residues 1 to 1795)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
REFERENCE   12 (residues 1 to 1795)
  AUTHORS   Petrucelli,N., Daly,M.B. and Pal,T.
  TITLE     BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135721.4.
            
            Summary: This gene encodes a 190 kD nuclear phosphoprotein that
            plays a role in maintaining genomic stability, and it also acts as
            a tumor suppressor. The BRCA1 gene contains 22 exons spanning about
            110 kb of DNA. The encoded protein combines with other tumor
            suppressors, DNA damage sensors, and signal transducers to form a
            large multi-subunit protein complex known as the BRCA1-associated
            genome surveillance complex (BASC). This gene product associates
            with RNA polymerase II, and through the C-terminal domain, also
            interacts with histone deacetylase complexes. This protein thus
            plays a role in transcription, DNA repair of double-stranded
            breaks, and recombination. Mutations in this gene are responsible
            for approximately 40% of inherited breast cancers and more than 80%
            of inherited breast and ovarian cancers. Alternative splicing plays
            a role in modulating the subcellular localization and physiological
            function of this gene. Many alternatively spliced transcript
            variants, some of which are disease-associated mutations, have been
            described for this gene, but the full-length natures of only some
            of these variants has been described. A related pseudogene, which
            is also located on chromosome 17, has been identified. [provided by
            RefSeq, May 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1898223.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1795
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..1795
                     /product="breast cancer type 1 susceptibility protein
                     isoform 48"
                     /EC_number="2.3.2.27"
                     /note="BRCA1/BRCA2-containing complex, subunit 1; RING
                     finger protein 53; breast cancer type 1 susceptibility
                     protein; breast and ovarian cancer susceptibility protein
                     1; protein phosphatase 1, regulatory subunit 53; Fanconi
                     anemia, complementation group S; early onset breast cancer
                     1; breast cancer 1, early onset"
                     /calculated_mol_wt=200039
     Region          7..99
                     /region_name="RING-HC_BRCA1"
                     /note="RING finger, HC subclass, found in breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd16498"
                     /db_xref="CDD:438161"
     Site            order(7..8,10..11,13..15,17..18,20,22..23,38,40,42,72,74,
                     76..79,81..82,85..86,88..89,92..93,95..97)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:438161"
     Region          22..>227
                     /region_name="rad18"
                     /note="DNA repair protein rad18; TIGR00599"
                     /db_xref="CDD:273165"
     Region          304..466
                     /region_name="BRCT_assoc"
                     /note="Serine-rich domain associated with BRCT; pfam12820"
                     /db_xref="CDD:432806"
     Region          1608..1678
                     /region_name="BRCT"
                     /note="C-terminal domain of the breast cancer suppressor
                     protein (BRCA1) and related domains; cl00038"
                     /db_xref="CDD:444666"
     Region          1690..1787
                     /region_name="BRCT_BRCA1_rpt2"
                     /note="second (C-terminal) BRCT domain of breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd17721"
                     /db_xref="CDD:349353"
     Site            order(1706..1707,1767..1768,1772,1784..1785)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349353"
     CDS             1..1795
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /coded_by="NM_001407863.1:108..5495"
                     /note="isoform 48 is encoded by transcript variant 157"
                     /db_xref="GeneID:672"
                     /db_xref="HGNC:HGNC:1100"
                     /db_xref="MIM:113705"
ORIGIN      
        1 mdlsalrvee vqnvinamqk ilecpiclel ikepvstkcd hifckfcmlk llnqkkgpsq
       61 cplcknditk rslqestrfs qlveellkii cafqldtgle yansynfakk ennspehlkd
      121 evsiiqsmgy rnrakrllqs epenpslqet slsvqlsnlg tvrtlrtkqr iqpqktsvyi
      181 elaacefset dvtntehhqp snndlnttek raaerhpeky qgssvsnlhv epcgtnthas
      241 slqhenssll ltkdrmnvek aefcnkskqp glarsqhnrw agsketcndr rtpstekkvd
      301 lnadplcerk ewnkqklpcs enprdtedvp witlnssiqk vnewfsrsde llgsddshdg
      361 esesnakvad vldvlnevde ysgssekidl lasdpheali ckservhsks vesniedkif
      421 gktyrkkasl pnlshvtenl iigafvtepq iiqerpltnk lkrkrrptsg lhpedfikka
      481 dlavqktpem inqgtnqteq ngqvmnitns ghenktkgds iqneknpnpi eslekesafk
      541 tkaepisssi snmelelnih nskapkknrl rrksstrhih alelvvsrnl sppnctelqi
      601 dscssseeik kkkynqmpvr hsrnlqlmeg kepatgakks nkpneqtskr hdsdtfpelk
      661 ltnapgsftk csntselkef vnpslpreek eekletvkvs nnaedpkdlm lsgervlqte
      721 rsvesssisl vpgtdygtqe sisllevstl gkaktepnkc vsqcaafenp kglihgcskd
      781 nrndtegfky plghevnhsr etsiemeese ldaqylqntf kvskrqsfap fsnpgnaeee
      841 catfsahsgs lkkqspkvtf eceqkeenqg knesnikpvq tvnitagfpv vgqkdkpvdn
      901 akcsikggsr fclssqfrgn etglitpnkh gllqnpyrip plfpiksfvk tkckknllee
      961 nfeehsmspe remgnenips tvstisrnni renvfkeass sninevgsst nevgssinei
     1021 gssdeniqae lgrnrgpkln amlrlgvlqp evykqslpgs nckhpeikkq eyeevvqtvn
     1081 tdfspylisd nleqpmgssh asqvcsetpd dllddgeike dtsfaendik essavfsksv
     1141 qkgelsrsps pfththlaqg yrrgakkles seenlssede elpcfqhllf gkvnnipsqs
     1201 trhstvatec lsknteenll slknslndcs nqvilakasq ehhlseetkc saslfssqcs
     1261 eledltantn tqdpfligss kqmrhqsesq gvglsdkelv sddeergtgl eennqeeqsm
     1321 dsnlgeaasg cesetsvsed csglssqsdi lttqqrdtmq hnliklqqem aeleavleqh
     1381 gsqpsnsyps iisdssaled lrnpeqstse kvltsqksse ypisqnpegl sadkfevsad
     1441 sstsknkepg versspskcp slddrwymhs csgslqnrny psqeelikvv dveeqqlees
     1501 gphdltetsy lprqdlegtp ylesgislfs ddpesdpsed rapesarvgn ipsstsalkv
     1561 pqlkvaesaq spaaahttdt agynameesv srekpeltas tervnkrmsm vvsgltpeef
     1621 mlvykfarkh hitltnlite etthvvmktg vtqsikerkm lnehdfevrg dvvngrnhqg
     1681 pkraresqdr kifrgleicc ygpftnmptd qlewmvqlcg asvvkelssf tlgtgvhpiv
     1741 vvqpdawted ngfhaigqmc eapvvtrewv ldsvalyqcq eldtylipqi phshy
//
LOCUS       NP_001310232             403 aa            linear   PRI 03-APR-2023
DEFINITION  aurora kinase A [Homo sapiens].
ACCESSION   NP_001310232 XP_005260591
VERSION     NP_001310232.1
DBSOURCE    REFSEQ: accession NM_001323303.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 403)
  AUTHORS   Bai T, Li M, Liu Y, Qiao Z, Zhang X, Wang Y and Wang Z.
  TITLE     The promotion action of AURKA on post-ischemic angiogenesis in
            diabetes-related limb ischemia
  JOURNAL   Mol Med 29 (1), 39 (2023)
   PUBMED   36977984
  REMARK    GeneRIF: The promotion action of AURKA on post-ischemic
            angiogenesis in diabetes-related limb ischemia.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 403)
  AUTHORS   Asteriti IA, Polverino F, Stagni V, Sterbini V, Ascanelli C, Naso
            FD, Mastrangelo A, Rosa A, Paiardini A, Lindon C and Guarguaglini
            G.
  TITLE     AurkA nuclear localization is promoted by TPX2 and counteracted by
            protein degradation
  JOURNAL   Life Sci Alliance 6 (5), e202201726 (2023)
   PUBMED   36797043
  REMARK    GeneRIF: AurkA nuclear localization is promoted by TPX2 and
            counteracted by protein degradation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 403)
  AUTHORS   Chen X, Ma J, Wang X, Zi T, Qian D, Li C and Xu C.
  TITLE     CCNB1 and AURKA are critical genes for prostate cancer progression
            and castration-resistant prostate cancer resistant to vinblastine
  JOURNAL   Front Endocrinol (Lausanne) 13, 1106175 (2022)
   PUBMED   36601001
  REMARK    GeneRIF: CCNB1 and AURKA are critical genes for prostate cancer
            progression and castration-resistant prostate cancer resistant to
            vinblastine.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 403)
  AUTHORS   Li G, Tian Y and Gao Z.
  TITLE     The role of AURKA/miR-199b-3p in hepatocellular carcinoma cells
  JOURNAL   J Clin Lab Anal 36 (12), e24758 (2022)
   PUBMED   36377304
  REMARK    GeneRIF: The role of AURKA/miR-199b-3p in hepatocellular carcinoma
            cells.
REFERENCE   5  (residues 1 to 403)
  AUTHORS   Abdelbaki A, Ascanelli C, Okoye CN, Akman HB, Janson G, Min M,
            Marcozzi C, Hagting A, Grant R, De Luca M, Asteriti IA,
            Guarguaglini G, Paiardini A and Lindon C.
  TITLE     Revisiting degron motifs in human AURKA required for its targeting
            by APC/CFZR1
  JOURNAL   Life Sci Alliance 6 (2), e202201372 (2022)
   PUBMED   36450448
  REMARK    GeneRIF: Revisiting degron motifs in human AURKA required for its
            targeting by APC/C[FZR1].
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 403)
  AUTHORS   Zhou H, Kuang J, Zhong L, Kuo WL, Gray JW, Sahin A, Brinkley BR and
            Sen S.
  TITLE     Tumour amplified kinase STK15/BTAK induces centrosome
            amplification, aneuploidy and transformation
  JOURNAL   Nat Genet 20 (2), 189-193 (1998)
   PUBMED   9771714
REFERENCE   7  (residues 1 to 403)
  AUTHORS   Shindo M, Nakano H, Kuroyanagi H, Shirasawa T, Mihara M, Gilbert
            DJ, Jenkins NA, Copeland NG, Yagita H and Okumura K.
  TITLE     cDNA cloning, expression, subcellular localization, and chromosomal
            assignment of mammalian aurora homologues, aurora-related kinase
            (ARK) 1 and 2
  JOURNAL   Biochem Biophys Res Commun 244 (1), 285-292 (1998)
   PUBMED   9514916
REFERENCE   8  (residues 1 to 403)
  AUTHORS   Kimura M, Kotani S, Hattori T, Sumi N, Yoshioka T, Todokoro K and
            Okano Y.
  TITLE     Cell cycle-dependent expression and spindle pole localization of a
            novel human protein kinase, Aik, related to Aurora of Drosophila
            and yeast Ipl1
  JOURNAL   J Biol Chem 272 (21), 13766-13771 (1997)
   PUBMED   9153231
REFERENCE   9  (residues 1 to 403)
  AUTHORS   Sen S, Zhou H and White RA.
  TITLE     A putative serine/threonine kinase encoding gene BTAK on chromosome
            20q13 is amplified and overexpressed in human breast cancer cell
            lines
  JOURNAL   Oncogene 14 (18), 2195-2200 (1997)
   PUBMED   9174055
REFERENCE   10 (residues 1 to 403)
  AUTHORS   Kimura M, Matsuda Y, Eki T, Yoshioka T, Okumura K, Hanaoka F and
            Okano Y.
  TITLE     Assignment of STK6 to human chromosome 20q13.2-->q13.3 and a
            pseudogene STK6P to 1q41-->q42
  JOURNAL   Cytogenet Cell Genet 79 (3-4), 201-203 (1997)
   PUBMED   9605851
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP224535.1, AL121914.31 and
            AF011468.1.
            On Apr 19, 2016 this sequence version replaced XP_005260591.1.
            
            Summary: The protein encoded by this gene is a cell cycle-regulated
            kinase that appears to be involved in microtubule formation and/or
            stabilization at the spindle pole during chromosome segregation.
            The encoded protein is found at the centrosome in interphase cells
            and at the spindle poles in mitosis. This gene may play a role in
            tumor development and progression. A processed pseudogene of this
            gene has been found on chromosome 1, and an unprocessed pseudogene
            has been found on chromosome 10. Multiple transcript variants
            encoding the same protein have been found for this gene. [provided
            by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853560.18743.1,
                                           SRR14038195.2701296.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..403
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.2"
     Protein         1..403
                     /product="aurora kinase A"
                     /EC_number="2.7.11.1"
                     /note="aurora/IPL1-like kinase; serine/threonine-protein
                     kinase 6; serine/threonine protein kinase 15;
                     aurora/IPL1-related kinase 1; breast tumor-amplified
                     kinase; serine/threonine-protein kinase aurora-A; protein
                     phosphatase 1, regulatory subunit 47; aurora 2"
                     /calculated_mol_wt=45692
     Region          1..125
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14965.3)"
     Site            41
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (O14965.3)"
     Site            51
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:17229885; propagated from
                     UniProtKB/Swiss-Prot (O14965.3)"
     Region          127..384
                     /region_name="STKc_Aurora-A"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Aurora-A kinase; cd14116"
                     /db_xref="CDD:271018"
     Site            order(127..128,132,152,154..155,157,159,166,170,175,
                     178..179,182..184,186..189,197..199,201,206,246,250,252,
                     280,282)
                     /site_type="other"
                     /note="TPX2 binding site [polypeptide binding]"
                     /db_xref="CDD:271018"
     Site            order(139..143,147,160,162,194,210..213,217,219,256,258,
                     260..261,263,274,277,291..294)
                     /site_type="active"
                     /db_xref="CDD:271018"
     Site            order(139..143,147,160,162,194,211,213,217,260..261,263,
                     274)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271018"
     Site            order(143,217,219,256,258,260,277,291..294)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271018"
     Site            273..294
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271018"
     Region          280..293
                     /region_name="Activation segment.
                     /evidence=ECO:0000269|PubMed:14580337"
                     /note="propagated from UniProtKB/Swiss-Prot (O14965.3)"
     Site            287
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:14580337,
                     ECO:0000269|PubMed:19668197; propagated from
                     UniProtKB/Swiss-Prot (O14965.3)"
     Site            288
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:11039908,
                     ECO:0000269|PubMed:13678582, ECO:0000269|PubMed:14580337,
                     ECO:0000269|PubMed:16246726, ECO:0000269|PubMed:18662907,
                     ECO:0000269|PubMed:19668197, ECO:0000269|PubMed:26246606;
                     propagated from UniProtKB/Swiss-Prot (O14965.3)"
     Site            342
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKA and PAK.
                     /evidence=ECO:0000269|PubMed:16246726; propagated from
                     UniProtKB/Swiss-Prot (O14965.3)"
     CDS             1..403
                     /gene="AURKA"
                     /gene_synonym="AIK; ARK1; AURA; BTAK; PPP1R47; STK15;
                     STK6; STK7"
                     /coded_by="NM_001323303.2:389..1600"
                     /db_xref="CCDS:CCDS13451.1"
                     /db_xref="GeneID:6790"
                     /db_xref="HGNC:HGNC:11393"
                     /db_xref="MIM:603072"
ORIGIN      
        1 mdrskencis gpvkatapvg gpkrvlvtqq fpcqnplpvn sgqaqrvlcp snssqriplq
       61 aqklvsshkp vqnqkqkqlq atsvphpvsr plnntqkskq plpsapennp eeelaskqkn
      121 eeskkrqwal edfeigrplg kgkfgnvyla rekqskfila lkvlfkaqle kagvehqlrr
      181 eveiqshlrh pnilrlygyf hdatrvylil eyaplgtvyr elqklskfde qrtatyitel
      241 analsychsk rvihrdikpe nlllgsagel kiadfgwsvh apssrrttlc gtldylppem
      301 iegrmhdekv dlwslgvlcy eflvgkppfe antyqetykr isrveftfpd fvtegardli
      361 srllkhnpsq rpmlrevleh pwitansskp sncqnkesas kqs
//
LOCUS       NP_001313252             504 aa            linear   PRI 10-APR-2023
DEFINITION  CUGBP Elav-like family member 2 isoform 7 [Homo sapiens].
ACCESSION   NP_001313252
VERSION     NP_001313252.1
DBSOURCE    REFSEQ: accession NM_001326323.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 504)
  AUTHORS   Wang J, Lai X and Peng X.
  TITLE     CircLIFR Inhibits Non-small Cell Lung Cancer Progression by Acting
            as a miR-429 Sponge to Enhance CELF2 Expression
  JOURNAL   Biochem Genet 61 (2), 725-741 (2023)
   PUBMED   36104590
  REMARK    GeneRIF: CircLIFR Inhibits Non-small Cell Lung Cancer Progression
            by Acting as a miR-429 Sponge to Enhance CELF2 Expression.
REFERENCE   2  (residues 1 to 504)
  AUTHORS   Tuo H, Liu R, Wang Y, Yang W and Liu Q.
  TITLE     Hypoxia-induced lncRNA MRVI1-AS1 accelerates hepatocellular
            carcinoma progression by recruiting RNA-binding protein CELF2 to
            stabilize SKA1 mRNA
  JOURNAL   World J Surg Oncol 21 (1), 111 (2023)
   PUBMED   36973749
  REMARK    GeneRIF: Hypoxia-induced lncRNA MRVI1-AS1 accelerates
            hepatocellular carcinoma progression by recruiting RNA-binding
            protein CELF2 to stabilize SKA1 mRNA.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 504)
  AUTHORS   Zhang Q and Wang Y.
  TITLE     MiR-210-3p targets CELF2 to facilitate progression of lung squamous
            carcinoma through PI3K/AKT pathway
  JOURNAL   Med Oncol 39 (11), 161 (2022)
   PUBMED   35972577
  REMARK    GeneRIF: MiR-210-3p targets CELF2 to facilitate progression of lung
            squamous carcinoma through PI3K/AKT pathway.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 504)
  AUTHORS   Yang Y, Cheng Y, Mou Y, Tang X and Mu X.
  TITLE     Natural Antisense Long Noncoding RNA HHIP-AS1 Suppresses
            Non-Small-Cell Lung Cancer Progression by Increasing HHIP Stability
            via Interaction with CELF2
  JOURNAL   Crit Rev Eukaryot Gene Expr 33 (1), 67-77 (2022)
   PUBMED   36374812
  REMARK    GeneRIF: Natural Antisense Long Noncoding RNA HHIP-AS1 Suppresses
            Non-Small-Cell Lung Cancer Progression by Increasing HHIP Stability
            via Interaction with CELF2.
REFERENCE   5  (residues 1 to 504)
  AUTHORS   Ramalingam S, Natarajan G, Schafer C, Subramaniam D, May R,
            Ramachandran I, Queimado L, Houchen CW and Anant S.
  TITLE     Novel intestinal splice variants of RNA-binding protein CUGBP2:
            isoform-specific effects on mitotic catastrophe
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 294 (4), G971-G981 (2008)
   PUBMED   18258790
  REMARK    GeneRIF: Data demonstrate that cells expressing CUGBP2 variant 1
            undergo apoptosis during mitosis, suggesting mitotic catastrophe.
REFERENCE   6  (residues 1 to 504)
  AUTHORS   Li D, Bachinski LL and Roberts R.
  TITLE     Genomic organization and isoform-specific tissue expression of
            human NAPOR (CUGBP2) as a candidate gene for familial
            arrhythmogenic right ventricular dysplasia
  JOURNAL   Genomics 74 (3), 396-401 (2001)
   PUBMED   11414768
REFERENCE   7  (residues 1 to 504)
  AUTHORS   Good PJ, Chen Q, Warner SJ and Herring DC.
  TITLE     A family of human RNA-binding proteins related to the Drosophila
            Bruno translational regulator
  JOURNAL   J Biol Chem 275 (37), 28583-28592 (2000)
   PUBMED   10893231
REFERENCE   8  (residues 1 to 504)
  AUTHORS   Choi DK, Ito T, Tsukahara F, Hirai M and Sakaki Y.
  TITLE     Developmentally-regulated expression of mNapor encoding an
            apoptosis-induced ELAV-type RNA binding protein
  JOURNAL   Gene 237 (1), 135-142 (1999)
   PUBMED   10524244
REFERENCE   9  (residues 1 to 504)
  AUTHORS   Lu X, Timchenko NA and Timchenko LT.
  TITLE     Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG
            repeats expanded in myotonic dystrophy
  JOURNAL   Hum Mol Genet 8 (1), 53-60 (1999)
   PUBMED   9887331
REFERENCE   10 (residues 1 to 504)
  AUTHORS   Hwang DM, Hwang WS and Liew CC.
  TITLE     Single pass sequencing of a unidirectional human fetal heart cDNA
            library to discover novel genes of the cardiovascular system
  JOURNAL   J Mol Cell Cardiol 26 (10), 1329-1333 (1994)
   PUBMED   7869393
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL583859.9, AL136319.8,
            AL136452.7, AL136369.7, AL136320.7, AL157704.10, AC026887.9 and
            KF573678.1.
            
            Summary: Members of the CELF/BRUNOL protein family contain two
            N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM
            domain, and a divergent segment of 160-230 aa between the second
            and third RRM domains. Members of this protein family regulate
            pre-mRNA alternative splicing and may also be involved in mRNA
            editing, and translation. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.142748.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMN03465403
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..504
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p14"
     Protein         1..504
                     /product="CUGBP Elav-like family member 2 isoform 7"
                     /note="ELAV-type RNA-binding protein 3; CUG-BP- and
                     ETR-3-like factor 2; neuroblastoma apoptosis-related
                     RNA-binding protein; bruno-like protein 3; RNA-binding
                     protein BRUNOL-3; CUG triplet repeat RNA-binding protein
                     2; KDM2B/CELF2 fusion"
                     /calculated_mol_wt=53741
     Region          15..98
                     /region_name="RRM1_CELF1_2_Bruno"
                     /note="RNA recognition motif 1 (RRM1) found in CUGBP
                     Elav-like family member CELF-1, CELF-2, Drosophila
                     melanogaster Bruno protein and similar proteins; cd12631"
                     /db_xref="CDD:410040"
     Site            order(19,21..22,25,46..49,51..52,59..61,63,93,95,97..98)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410040"
     Region          107..187
                     /region_name="RRM2_CELF1_2"
                     /note="RNA recognition motif 2 (RRM2) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12634"
                     /db_xref="CDD:410042"
     Site            order(109,111,113..114,117,136,138,140,148..150,152,
                     178..179,182,184,186..187)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410042"
     Region          412..503
                     /region_name="RRM3_CELF1_2"
                     /note="RNA recognition motif 3 (RRM3) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12638"
                     /db_xref="CDD:241082"
     CDS             1..504
                     /gene="CELF2"
                     /gene_synonym="BRUNOL3; CELF-2; CUG-BP2; CUGBP2; DEE97;
                     ETR-3; ETR3; NAPOR"
                     /coded_by="NM_001326323.2:226..1740"
                     /note="isoform 7 is encoded by transcript variant 10"
                     /db_xref="GeneID:10659"
                     /db_xref="HGNC:HGNC:2550"
                     /db_xref="MIM:602538"
ORIGIN      
        1 mngaldhsdq pdpdaikmfv gqiprswsek elkelfepyg avyqinvlrd rsqnppqskg
       61 ccfvtfytrk aaleaqnalh niktlpgmhh piqmkpadse ksnavedrkl figmvskkcn
      121 endirvmfsp fgqieecril rgpdglsrgc afvtfstram aqnaikamhq sqtmegcssp
      181 ivvkfadtqk dkeqrrlqqq laqqmqqlnt atwgnltglg gltpqylall qqatsssnlg
      241 afsgiqqmag mnalqlqnla tlaaaaaaaq tsatstnanp lsttssalga ltspvaastp
      301 nstagaamns ltslgtlqgl agatvglnni nalaaprskr lllpkdnnva qmlsgmaaln
      361 gglgatgltn gtagtmdalt qaysgiqqya aaalptlysq sllqqqsaag sqkegpegan
      421 lfiyhlpqef gdqdilqmfm pfgnvisakv fidkqtnlsk cfgfvsydnp vsaqaaiqam
      481 ngfqigmkrl kvqlkrsknd skpy
//
LOCUS       NP_001354637             596 aa            linear   PRI 10-APR-2023
DEFINITION  SUN domain-containing protein 1 isoform sss [Homo sapiens].
ACCESSION   NP_001354637
VERSION     NP_001354637.1
DBSOURCE    REFSEQ: accession NM_001367708.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 596)
  AUTHORS   Meng Q, Shao B, Zhao D, Fu X, Wang J, Li H, Zhou Q and Gao T.
  TITLE     Loss of SUN1 function in spermatocytes disrupts the attachment of
            telomeres to the nuclear envelope and contributes to
            non-obstructive azoospermia in humans
  JOURNAL   Hum Genet 142 (4), 531-541 (2023)
   PUBMED   36933034
  REMARK    GeneRIF: Loss of SUN1 function in spermatocytes disrupts the
            attachment of telomeres to the nuclear envelope and contributes to
            non-obstructive azoospermia in humans.
REFERENCE   2  (residues 1 to 596)
  AUTHORS   Wu H, Zhang X, Hua R, Li Y, Cheng L, Li K, Liu Y, Gao Y, Shen Q,
            Wang G, Lv M, Xu Y, He X, Cao Y and Liu M.
  TITLE     Homozygous missense mutation in CCDC155 disrupts the transmembrane
            distribution of CCDC155 and SUN1, resulting in non-obstructive
            azoospermia and premature ovarian insufficiency in humans
  JOURNAL   Hum Genet 141 (11), 1795-1809 (2022)
   PUBMED   35587281
  REMARK    GeneRIF: Homozygous missense mutation in CCDC155 disrupts the
            transmembrane distribution of CCDC155 and SUN1, resulting in
            non-obstructive azoospermia and premature ovarian insufficiency in
            humans.
REFERENCE   3  (residues 1 to 596)
  AUTHORS   Persaud M, Selyutina A, Buffone C, Opp S, Donahue DA, Schwartz O
            and Diaz-Griffero F.
  TITLE     Nuclear restriction of HIV-1 infection by SUN1
  JOURNAL   Sci Rep 11 (1), 19128 (2021)
   PUBMED   34580332
  REMARK    GeneRIF: Nuclear restriction of HIV-1 infection by SUN1.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 596)
  AUTHORS   Chen Y, Wang Y, Chen J, Zuo W, Fan Y, Huang S, Liu Y, Chen G, Li Q,
            Li J, Wu J, Bian Q, Huang C and Lei M.
  TITLE     The SUN1-SPDYA interaction plays an essential role in meiosis
            prophase I
  JOURNAL   Nat Commun 12 (1), 3176 (2021)
   PUBMED   34039995
  REMARK    GeneRIF: The SUN1-SPDYA interaction plays an essential role in
            meiosis prophase I.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 596)
  AUTHORS   Hieda M, Matsumoto T, Isobe M, Kurono S, Yuka K, Kametaka S, Wang
            JY, Chi YH, Kameda K, Kimura H, Matsuura N and Matsuura S.
  TITLE     The SUN2-nesprin-2 LINC complex and KIF20A function in the Golgi
            dispersal
  JOURNAL   Sci Rep 11 (1), 5358 (2021)
   PUBMED   33686165
  REMARK    GeneRIF: The SUN2-nesprin-2 LINC complex and KIF20A function in the
            Golgi dispersal.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 596)
  AUTHORS   Crisp M, Liu Q, Roux K, Rattner JB, Shanahan C, Burke B, Stahl PD
            and Hodzic D.
  TITLE     Coupling of the nucleus and cytoplasm: role of the LINC complex
  JOURNAL   J Cell Biol 172 (1), 41-53 (2006)
   PUBMED   16380439
REFERENCE   7  (residues 1 to 596)
  AUTHORS   Padmakumar VC, Libotte T, Lu W, Zaim H, Abraham S, Noegel AA,
            Gotzmann J, Foisner R and Karakesisoglou I.
  TITLE     The inner nuclear membrane protein Sun1 mediates the anchorage of
            Nesprin-2 to the nuclear envelope
  JOURNAL   J Cell Sci 118 (Pt 15), 3419-3430 (2005)
   PUBMED   16079285
  REMARK    GeneRIF: The Sun1 itself does not require functional A-type lamins
            for its localisation at the inner nuclear membrane in mammalian
            cells.
REFERENCE   8  (residues 1 to 596)
  AUTHORS   Bray JD, Chennathukuzhi VM and Hecht NB.
  TITLE     Identification and characterization of cDNAs encoding four novel
            proteins that interact with translin associated factor-X
  JOURNAL   Genomics 79 (6), 799-808 (2002)
   PUBMED   12036294
  REMARK    GeneRIF: Isolation of a cDNA encoding a mouse homolog of the human
            SUN1 (UNC84A) gene.
REFERENCE   9  (residues 1 to 596)
  AUTHORS   Dreger M, Bengtsson L, Schoneberg T, Otto H and Hucho F.
  TITLE     Nuclear envelope proteomics: novel integral membrane proteins of
            the inner nuclear membrane
  JOURNAL   Proc Natl Acad Sci U S A 98 (21), 11943-11948 (2001)
   PUBMED   11593002
  REMARK    GeneRIF: KIAA0810 is a novel 100-kDa transmembrane protein with
            similarity to Caenorhabditis elegans Unc-84A and resides in the
            inner nuclear membrane. It is likely to interact with the nuclear
            lamina.
REFERENCE   10 (residues 1 to 596)
  AUTHORS   Malone CJ, Fixsen WD, Horvitz HR and Han M.
  TITLE     UNC-84 localizes to the nuclear envelope and is required for
            nuclear migration and anchoring during C. elegans development
  JOURNAL   Development 126 (14), 3171-3181 (1999)
   PUBMED   10375507
  REMARK    GeneRIF: Describes cloning and function of C. elegans unc-84 and
            cloning of human orthologs.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099731.5.
            
            Summary: This gene is a member of the unc-84 homolog family and
            encodes a nuclear envelope protein with an Unc84 (SUN) domain. The
            protein is involved in nuclear anchorage and migration.
            Alternatively spliced transcript variants have been described.
            [provided by RefSeq, Jan 2019].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803615.184710.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..596
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     Protein         1..596
                     /product="SUN domain-containing protein 1 isoform sss"
                     /note="Sad1 unc-84 domain protein 1; protein unc-84
                     homolog A; SUN domain-containing protein 1; sad1/unc-84
                     protein-like 1"
                     /calculated_mol_wt=66819
     Region          <1..102
                     /region_name="MRP"
                     /note="Mitochondrial RNA binding protein MRP; pfam09387"
                     /db_xref="CDD:430576"
     Region          <177..371
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          228..281
                     /region_name="SUN1_cc1"
                     /note="coiled-coil domain 1 of SUN domain-containing
                     protein 1 and similar proteins; cd21439"
                     /db_xref="CDD:410605"
     Site            order(228,231..232,235,238..239,242..243,245..246,
                     249..250,252..253,256..257,259..260,263,266..267,270,
                     273..274,277..278,280..281)
                     /site_type="other"
                     /note="putative trimer interface [polypeptide binding]"
                     /db_xref="CDD:410605"
     Region          358..416
                     /region_name="Sun2_CC2"
                     /note="SUN2 coiled coil domain 2; pfam18580"
                     /db_xref="CDD:436594"
     Region          459..594
                     /region_name="Sad1_UNC"
                     /note="Sad1 / UNC-like C-terminal; pfam07738"
                     /db_xref="CDD:400199"
     CDS             1..596
                     /gene="SUN1"
                     /gene_synonym="UNC84A"
                     /coded_by="NM_001367708.1:448..2238"
                     /note="isoform sss is encoded by transcript variant 71"
                     /db_xref="GeneID:23353"
                     /db_xref="HGNC:HGNC:18587"
                     /db_xref="MIM:607723"
ORIGIN      
        1 mlserkdvlt ahpaapgpvs rvysrdrnqk cyfllqilrr igavgqavsr tawsalwlav
       61 vapgkaasgv fwwlgigwyq fvtliswlnv flltrclrni ckflvllipl flllaglslr
      121 gqgnffsflp vlnwasmhrt qrvddpqdvf kpttsrlkqp lqgdseafpw hwmsgveqqv
      181 aslsgqchhh genlrelttl lqklqarvdq meggaagpsa svrdavgqpp retdfmafhq
      241 ehevrmshle dilgklreks eaiqkeleqt kqktisavge qllptvehlq leldqlksel
      301 sswrhvktgc etvdavqerv dvqvremvkl lfsedqqggs leqllqrfss qfvskgdlqt
      361 mlrdlqlqil rnvthhvsvt kqlptseavv savseagasg iteaqaraiv nsalklysqd
      421 ktgmvdfale sgggsilstr csetyetkta lmslfgiplw yfsqsprvvi qpdiypgncw
      481 afkgsqgylv vrlsmmihpa aftlehipkt lsptgnissa pkdfavygle neyqeegqll
      541 gqftydqdge slqmfqalkr pddtafqive lrifsnwghp eytclyrfrv hgepvk
//
LOCUS       NP_001005862            1225 aa            linear   PRI 17-APR-2023
DEFINITION  receptor tyrosine-protein kinase erbB-2 isoform b [Homo sapiens].
ACCESSION   NP_001005862
VERSION     NP_001005862.1
DBSOURCE    REFSEQ: accession NM_001005862.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1225)
  AUTHORS   Kollara A, Burt BD, Ringuette MJ and Brown TJ.
  TITLE     The adaptor protein VEPH1 interacts with the kinase domain of ERBB2
            and impacts EGF signaling in ovarian cancer cells
  JOURNAL   Cell Signal 106, 110634 (2023)
   PUBMED   36828346
  REMARK    GeneRIF: The adaptor protein VEPH1 interacts with the kinase domain
            of ERBB2 and impacts EGF signaling in ovarian cancer cells.
REFERENCE   2  (residues 1 to 1225)
  AUTHORS   Sanguedolce F, Zanelli M, Palicelli A, Bisagni A, Zizzo M, Ascani
            S, Pedicillo MC, Cormio A, Falagario UG, Carrieri G and Cormio L.
  TITLE     HER2 Expression in Bladder Cancer: A Focused View on Its
            Diagnostic, Prognostic, and Predictive Role
  JOURNAL   Int J Mol Sci 24 (4), 3720 (2023)
   PUBMED   36835131
  REMARK    GeneRIF: HER2 Expression in Bladder Cancer: A Focused View on Its
            Diagnostic, Prognostic, and Predictive Role.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1225)
  AUTHORS   Helal DS, Darwish SA, Awad RA, Ali DA and El-Guindy DM.
  TITLE     Immunohistochemical based molecular subtypes of muscle-invasive
            bladder cancer: association with HER2 and EGFR alterations,
            neoadjuvant chemotherapy response and survival
  JOURNAL   Diagn Pathol 18 (1), 11 (2023)
   PUBMED   36737799
  REMARK    GeneRIF: Immunohistochemical based molecular subtypes of
            muscle-invasive bladder cancer: association with HER2 and EGFR
            alterations, neoadjuvant chemotherapy response and survival.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1225)
  AUTHORS   Cardoso YMN, Resque RL, Yoshio D, B Miranda AR, Secco M and Do N
            Rodrigues AS.
  TITLE     Association between the Arg72Pro Genotypes in the TP53 Gene and
            Ile655Val in the HER2 Gene and the Risk of Developing Breast Cancer
            in the Population of Amapa, Northern Brazil
  JOURNAL   Asian Pac J Cancer Prev 24 (1), 157-162 (2023)
   PUBMED   36708564
  REMARK    GeneRIF: Association between the Arg72Pro Genotypes in the TP53
            Gene and Ile655Val in the HER2 Gene and the Risk of Developing
            Breast Cancer in the Population of Amapa, Northern Brazil.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1225)
  AUTHORS   Oh DY and Bang YJ.
  TITLE     HER2-targeted therapies - a role beyond breast cancer
  JOURNAL   Nat Rev Clin Oncol 17 (1), 33-48 (2020)
   PUBMED   31548601
  REMARK    Review article
REFERENCE   6  (residues 1 to 1225)
  AUTHORS   Child SJ, Miller MK and Geballe AP.
  TITLE     Translational control by an upstream open reading frame in the
            HER-2/neu transcript
  JOURNAL   J Biol Chem 274 (34), 24335-24341 (1999)
   PUBMED   10446211
REFERENCE   7  (residues 1 to 1225)
  AUTHORS   Child SJ, Miller MK and Geballe AP.
  TITLE     Cell type-dependent and -independent control of HER-2/neu
            translation
  JOURNAL   Int J Biochem Cell Biol 31 (1), 201-213 (1999)
   PUBMED   10216954
  REMARK    Erratum:[Int J Biochem Cell Biol 1999 Aug;31(8):883-4]
REFERENCE   8  (residues 1 to 1225)
  AUTHORS   Gout I, Dhand R, Panayotou G, Fry MJ, Hiles I, Otsu M and
            Waterfield MD.
  TITLE     Expression and characterization of the p85 subunit of the
            phosphatidylinositol 3-kinase complex and a related p85 beta
            protein by using the baculovirus expression system
  JOURNAL   Biochem J 288 (Pt 2) (Pt 2), 395-405 (1992)
   PUBMED   1334406
REFERENCE   9  (residues 1 to 1225)
  AUTHORS   Peles E, Lamprecht R, Ben-Levy R, Tzahar E and Yarden Y.
  TITLE     Regulated coupling of the Neu receptor to phosphatidylinositol
            3'-kinase and its release by oncogenic activation
  JOURNAL   J Biol Chem 267 (17), 12266-12274 (1992)
   PUBMED   1351056
REFERENCE   10 (residues 1 to 1225)
  AUTHORS   Hall JM and King MC.
  TITLE     PCR detection of an MboI polymorphism in the ERBB2 (HER2; NEU) gene
            on chromosome 17q11.2-q12
  JOURNAL   Nucleic Acids Res 19 (9), 2515 (1991)
   PUBMED   1675005
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087491.5 and AC079199.9.
            
            Summary: This gene encodes a member of the epidermal growth factor
            (EGF) receptor family of receptor tyrosine kinases. This protein
            has no ligand binding domain of its own and therefore cannot bind
            growth factors. However, it does bind tightly to other ligand-bound
            EGF receptor family members to form a heterodimer, stabilizing
            ligand binding and enhancing kinase-mediated activation of
            downstream signalling pathways, such as those involving
            mitogen-activated protein kinase and phosphatidylinositol-3 kinase.
            Allelic variations at amino acid positions 654 and 655 of isoform a
            (positions 624 and 625 of isoform b) have been reported, with the
            most common allele, Ile654/Ile655, shown here. Amplification and/or
            overexpression of this gene has been reported in numerous cancers,
            including breast and ovarian tumors. Alternative splicing results
            in several additional transcript variants, some encoding different
            isoforms and others that have not been fully characterized.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.2855139.1,
                                           SRR18074969.1776953.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1225
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     Protein         1..1225
                     /product="receptor tyrosine-protein kinase erbB-2 isoform
                     b"
                     /EC_number="2.7.10.1"
                     /note="herstatin; receptor tyrosine-protein kinase erbB-2;
                     neuroblastoma/glioblastoma derived oncogene homolog; c-erb
                     B2/neu protein; proto-oncogene Neu; proto-oncogene
                     c-ErbB-2; metastatic lymph node gene 19 protein; tyrosine
                     kinase-type cell surface receptor HER2; v-erb-b2 avian
                     erythroblastic leukemia viral oncogene homolog 2; v-erb-b2
                     erythroblastic leukemia viral oncogene homolog 2,
                     neuro/glioblastoma derived oncogene homolog; v-erb-b2
                     avian erythroblastic leukemia viral oncoprotein 2; human
                     epidermal growth factor receptor 2"
                     /calculated_mol_wt=134725
     Region          22..143
                     /region_name="Recep_L_domain"
                     /note="Receptor L domain; pfam01030"
                     /db_xref="CDD:426001"
     Region          159..308
                     /region_name="Furin-like"
                     /note="Furin-like cysteine rich region; pfam00757"
                     /db_xref="CDD:395614"
     Region          336..452
                     /region_name="Recep_L_domain"
                     /note="Receptor L domain; pfam01030"
                     /db_xref="CDD:426001"
     Region          481..613
                     /region_name="GF_recep_IV"
                     /note="Growth factor receptor domain IV; pfam14843"
                     /db_xref="CDD:434259"
     Region          611..654
                     /region_name="TM_ErbB2"
                     /note="Transmembrane domain of ErbB2, a Protein Tyrosine
                     Kinase; cd12094"
                     /db_xref="CDD:213055"
     Site            order(613..614,616,619,622,625..627,629..630,633..634,637)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:213055"
     Site            order(614..617,619..622,625..627,629..631,633..634,637,
                     641)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:213055"
     Region          682..960
                     /region_name="PTKc_HER2"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     HER2; cd05109"
                     /db_xref="CDD:270684"
     Site            order(696..697,699,704,721,723,744,768..769,771,819..820,
                     822,833,854..858,863,867)
                     /site_type="active"
                     /db_xref="CDD:270684"
     Site            order(696..697,699,704,721,723,744,768..769,771,819..820,
                     822,833)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270684"
     Site            832..857
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270684"
     Site            order(854..858,863,867)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270684"
     CDS             1..1225
                     /gene="ERBB2"
                     /gene_synonym="c-ERB-2; c-ERB2; CD340; HER-2; HER-2/neu;
                     HER2; MLN 19; MLN-19; NEU; NGL; p185(erbB2); TKR1; VSCN2"
                     /coded_by="NM_001005862.3:567..4244"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS45667.1"
                     /db_xref="GeneID:2064"
                     /db_xref="HGNC:HGNC:3430"
                     /db_xref="MIM:164870"
ORIGIN      
        1 mklrlpaspe thldmlrhly qgcqvvqgnl eltylptnas lsflqdiqev qgyvliahnq
       61 vrqvplqrlr ivrgtqlfed nyalavldng dplnnttpvt gaspgglrel qlrslteilk
      121 ggvliqrnpq lcyqdtilwk difhknnqla ltlidtnrsr achpcspmck gsrcwgesse
      181 dcqsltrtvc aggcarckgp lptdccheqc aagctgpkhs dclaclhfnh sgicelhcpa
      241 lvtyntdtfe smpnpegryt fgascvtacp ynylstdvgs ctlvcplhnq evtaedgtqr
      301 cekcskpcar vcyglgmehl revravtsan iqefagckki fgslaflpes fdgdpasnta
      361 plqpeqlqvf etleeitgyl yisawpdslp dlsvfqnlqv irgrilhnga ysltlqglgi
      421 swlglrslre lgsglalihh nthlcfvhtv pwdqlfrnph qallhtanrp edecvgegla
      481 chqlcarghc wgpgptqcvn csqflrgqec veecrvlqgl preyvnarhc lpchpecqpq
      541 ngsvtcfgpe adqcvacahy kdppfcvarc psgvkpdlsy mpiwkfpdee gacqpcpinc
      601 thscvdlddk gcpaeqrasp ltsiisavvg illvvvlgvv fgilikrrqq kirkytmrrl
      661 lqetelvepl tpsgampnqa qmrilketel rkvkvlgsga fgtvykgiwi pdgenvkipv
      721 aikvlrents pkankeilde ayvmagvgsp yvsrllgicl tstvqlvtql mpygclldhv
      781 renrgrlgsq dllnwcmqia kgmsyledvr lvhrdlaarn vlvkspnhvk itdfglarll
      841 dideteyhad ggkvpikwma lesilrrrft hqsdvwsygv tvwelmtfga kpydgipare
      901 ipdllekger lpqppictid vymimvkcwm idsecrprfr elvsefsrma rdpqrfvviq
      961 nedlgpaspl dstfyrslle dddmgdlvda eeylvpqqgf fcpdpapgag gmvhhrhrss
     1021 strsgggdlt lglepseeea prsplapseg agsdvfdgdl gmgaakglqs lpthdpsplq
     1081 rysedptvpl psetdgyvap ltcspqpeyv nqpdvrpqpp spregplpaa rpagatlerp
     1141 ktlspgkngv vkdvfafgga venpeyltpq ggaapqphpp pafspafdnl yywdqdpper
     1201 gappstfkgt ptaenpeylg ldvpv
//
LOCUS       NP_001369734             938 aa            linear   PRI 17-APR-2023
DEFINITION  receptor tyrosine-protein kinase erbB-2 isoform aa precursor [Homo
            sapiens].
ACCESSION   NP_001369734
VERSION     NP_001369734.1
DBSOURCE    REFSEQ: accession NM_001382805.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 938)
  AUTHORS   Kollara A, Burt BD, Ringuette MJ and Brown TJ.
  TITLE     The adaptor protein VEPH1 interacts with the kinase domain of ERBB2
            and impacts EGF signaling in ovarian cancer cells
  JOURNAL   Cell Signal 106, 110634 (2023)
   PUBMED   36828346
  REMARK    GeneRIF: The adaptor protein VEPH1 interacts with the kinase domain
            of ERBB2 and impacts EGF signaling in ovarian cancer cells.
REFERENCE   2  (residues 1 to 938)
  AUTHORS   Sanguedolce F, Zanelli M, Palicelli A, Bisagni A, Zizzo M, Ascani
            S, Pedicillo MC, Cormio A, Falagario UG, Carrieri G and Cormio L.
  TITLE     HER2 Expression in Bladder Cancer: A Focused View on Its
            Diagnostic, Prognostic, and Predictive Role
  JOURNAL   Int J Mol Sci 24 (4), 3720 (2023)
   PUBMED   36835131
  REMARK    GeneRIF: HER2 Expression in Bladder Cancer: A Focused View on Its
            Diagnostic, Prognostic, and Predictive Role.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 938)
  AUTHORS   Helal DS, Darwish SA, Awad RA, Ali DA and El-Guindy DM.
  TITLE     Immunohistochemical based molecular subtypes of muscle-invasive
            bladder cancer: association with HER2 and EGFR alterations,
            neoadjuvant chemotherapy response and survival
  JOURNAL   Diagn Pathol 18 (1), 11 (2023)
   PUBMED   36737799
  REMARK    GeneRIF: Immunohistochemical based molecular subtypes of
            muscle-invasive bladder cancer: association with HER2 and EGFR
            alterations, neoadjuvant chemotherapy response and survival.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 938)
  AUTHORS   Cardoso YMN, Resque RL, Yoshio D, B Miranda AR, Secco M and Do N
            Rodrigues AS.
  TITLE     Association between the Arg72Pro Genotypes in the TP53 Gene and
            Ile655Val in the HER2 Gene and the Risk of Developing Breast Cancer
            in the Population of Amapa, Northern Brazil
  JOURNAL   Asian Pac J Cancer Prev 24 (1), 157-162 (2023)
   PUBMED   36708564
  REMARK    GeneRIF: Association between the Arg72Pro Genotypes in the TP53
            Gene and Ile655Val in the HER2 Gene and the Risk of Developing
            Breast Cancer in the Population of Amapa, Northern Brazil.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 938)
  AUTHORS   Oh DY and Bang YJ.
  TITLE     HER2-targeted therapies - a role beyond breast cancer
  JOURNAL   Nat Rev Clin Oncol 17 (1), 33-48 (2020)
   PUBMED   31548601
  REMARK    Review article
REFERENCE   6  (residues 1 to 938)
  AUTHORS   Child SJ, Miller MK and Geballe AP.
  TITLE     Translational control by an upstream open reading frame in the
            HER-2/neu transcript
  JOURNAL   J Biol Chem 274 (34), 24335-24341 (1999)
   PUBMED   10446211
REFERENCE   7  (residues 1 to 938)
  AUTHORS   Child SJ, Miller MK and Geballe AP.
  TITLE     Cell type-dependent and -independent control of HER-2/neu
            translation
  JOURNAL   Int J Biochem Cell Biol 31 (1), 201-213 (1999)
   PUBMED   10216954
  REMARK    Erratum:[Int J Biochem Cell Biol 1999 Aug;31(8):883-4]
REFERENCE   8  (residues 1 to 938)
  AUTHORS   Gout I, Dhand R, Panayotou G, Fry MJ, Hiles I, Otsu M and
            Waterfield MD.
  TITLE     Expression and characterization of the p85 subunit of the
            phosphatidylinositol 3-kinase complex and a related p85 beta
            protein by using the baculovirus expression system
  JOURNAL   Biochem J 288 (Pt 2) (Pt 2), 395-405 (1992)
   PUBMED   1334406
REFERENCE   9  (residues 1 to 938)
  AUTHORS   Peles E, Lamprecht R, Ben-Levy R, Tzahar E and Yarden Y.
  TITLE     Regulated coupling of the Neu receptor to phosphatidylinositol
            3'-kinase and its release by oncogenic activation
  JOURNAL   J Biol Chem 267 (17), 12266-12274 (1992)
   PUBMED   1351056
REFERENCE   10 (residues 1 to 938)
  AUTHORS   Hall JM and King MC.
  TITLE     PCR detection of an MboI polymorphism in the ERBB2 (HER2; NEU) gene
            on chromosome 17q11.2-q12
  JOURNAL   Nucleic Acids Res 19 (9), 2515 (1991)
   PUBMED   1675005
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087491.5 and AC079199.9.
            
            Summary: This gene encodes a member of the epidermal growth factor
            (EGF) receptor family of receptor tyrosine kinases. This protein
            has no ligand binding domain of its own and therefore cannot bind
            growth factors. However, it does bind tightly to other ligand-bound
            EGF receptor family members to form a heterodimer, stabilizing
            ligand binding and enhancing kinase-mediated activation of
            downstream signalling pathways, such as those involving
            mitogen-activated protein kinase and phosphatidylinositol-3 kinase.
            Allelic variations at amino acid positions 654 and 655 of isoform a
            (positions 624 and 625 of isoform b) have been reported, with the
            most common allele, Ile654/Ile655, shown here. Amplification and/or
            overexpression of this gene has been reported in numerous cancers,
            including breast and ovarian tumors. Alternative splicing results
            in several additional transcript variants, some encoding different
            isoforms and others that have not been fully characterized.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1965299, SAMEA1966682
                              [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..938
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     Protein         1..938
                     /product="receptor tyrosine-protein kinase erbB-2 isoform
                     aa precursor"
                     /EC_number="2.7.10.1"
                     /note="herstatin; receptor tyrosine-protein kinase erbB-2;
                     neuroblastoma/glioblastoma derived oncogene homolog; c-erb
                     B2/neu protein; proto-oncogene Neu; proto-oncogene
                     c-ErbB-2; metastatic lymph node gene 19 protein; tyrosine
                     kinase-type cell surface receptor HER2; v-erb-b2 avian
                     erythroblastic leukemia viral oncogene homolog 2; v-erb-b2
                     erythroblastic leukemia viral oncogene homolog 2,
                     neuro/glioblastoma derived oncogene homolog; v-erb-b2
                     avian erythroblastic leukemia viral oncoprotein 2; human
                     epidermal growth factor receptor 2"
                     /calculated_mol_wt=99764
     sig_peptide     1..22
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2267
     Region          52..173
                     /region_name="Recep_L_domain"
                     /note="Receptor L domain; pfam01030"
                     /db_xref="CDD:426001"
     Site            68
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20696930,
                     ECO:0007744|PDB:2A91, ECO:0007744|PDB:3MZW; propagated
                     from UniProtKB/Swiss-Prot (P04626.1)"
     Site            124
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P04626.1)"
     Site            182
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P04626.1)"
     Site            187
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255, ECO:0007744|PDB:1N8Z,
                     ECO:0007744|PDB:1S78, ECO:0007744|PDB:2A91,
                     ECO:0007744|PDB:3N85; propagated from UniProtKB/Swiss-Prot
                     (P04626.1)"
     Region          189..338
                     /region_name="Furin-like"
                     /note="Furin-like cysteine rich region; pfam00757"
                     /db_xref="CDD:395614"
     Site            259
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15093539,
                     ECO:0000269|PubMed:19299620, ECO:0000269|PubMed:20696930,
                     ECO:0007744|PDB:1N8Z, ECO:0007744|PDB:1S78,
                     ECO:0007744|PDB:2A91, ECO:0007744|PDB:3MZW,
                     ECO:0007744|PDB:3N85; propagated from UniProtKB/Swiss-Prot
                     (P04626.1)"
     Region          366..482
                     /region_name="Recep_L_domain"
                     /note="Receptor L domain; pfam01030"
                     /db_xref="CDD:426001"
     Region          511..643
                     /region_name="GF_recep_IV"
                     /note="Growth factor receptor domain IV; pfam14843"
                     /db_xref="CDD:434259"
     Site            530
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15093539,
                     ECO:0000269|PubMed:19299620, ECO:0007744|PDB:1S78;
                     propagated from UniProtKB/Swiss-Prot (P04626.1)"
     Site            571
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20696930,
                     ECO:0007744|PDB:3MZW; propagated from UniProtKB/Swiss-Prot
                     (P04626.1)"
     Site            629
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P04626.1)"
     Region          641..684
                     /region_name="TM_ErbB2"
                     /note="Transmembrane domain of ErbB2, a Protein Tyrosine
                     Kinase; cd12094"
                     /db_xref="CDD:213055"
     Site            order(643..644,646,649,652,655..657,659..660,663..664,667)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:213055"
     Site            order(644..647,649..652,655..657,659..661,663..664,667,
                     671)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:213055"
     Site            653..675
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P04626.1)"
     Region          676..689
                     /region_name="Nuclear localization signal"
                     /note="propagated from UniProtKB/Swiss-Prot (P04626.1)"
     Region          676..689
                     /region_name="Required for interaction with KPNB1 and
                     EEA1. /evidence=ECO:0000269|PubMed:16314522"
                     /note="propagated from UniProtKB/Swiss-Prot (P04626.1)"
     Region          712..>736
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          <746..>875
                     /region_name="FimV"
                     /note="Tfp pilus assembly protein FimV [Cell motility,
                     Extracellular structures]; COG3170"
                     /db_xref="CDD:225711"
     CDS             1..938
                     /gene="ERBB2"
                     /gene_synonym="c-ERB-2; c-ERB2; CD340; HER-2; HER-2/neu;
                     HER2; MLN 19; MLN-19; NEU; NGL; p185(erbB2); TKR1; VSCN2"
                     /coded_by="NM_001382805.1:176..2992"
                     /note="isoform aa precursor is encoded by transcript
                     variant 30"
                     /db_xref="GeneID:2064"
                     /db_xref="HGNC:HGNC:3430"
                     /db_xref="MIM:164870"
ORIGIN      
        1 melaalcrwg lllallppga astqvctgtd mklrlpaspe thldmlrhly qgcqvvqgnl
       61 eltylptnas lsflqdiqev qgyvliahnq vrqvplqrlr ivrgtqlfed nyalavldng
      121 dplnnttpvt gaspgglrel qlrslteilk ggvliqrnpq lcyqdtilwk difhknnqla
      181 ltlidtnrsr achpcspmck gsrcwgesse dcqsltrtvc aggcarckgp lptdccheqc
      241 aagctgpkhs dclaclhfnh sgicelhcpa lvtyntdtfe smpnpegryt fgascvtacp
      301 ynylstdvgs ctlvcplhnq evtaedgtqr cekcskpcar vcyglgmehl revravtsan
      361 iqefagckki fgslaflpes fdgdpasnta plqpeqlqvf etleeitgyl yisawpdslp
      421 dlsvfqnlqv irgrilhnga ysltlqglgi swlglrslre lgsglalihh nthlcfvhtv
      481 pwdqlfrnph qallhtanrp edecvgegla chqlcarghc wgpgptqcvn csqflrgqec
      541 veecrvlqgl preyvnarhc lpchpecqpq ngsvtcfgpe adqcvacahy kdppfcvarc
      601 psgvkpdlsy mpiwkfpdee gacqpcpinc thscvdlddk gcpaeqrasp ltsiisavvg
      661 illvvvlgvv fgilikrrqq kirkytmrrl lqetelvepl tpsgampnqa qmrilketel
      721 rkvkvlgsga fgtvyksggg dltlglepse eeaprsplap segagsdvfd gdlgmgaakg
      781 lqslpthdps plqrysedpt vplpsetdgy vapltcspqp eyvnqpdvrp qppspregpl
      841 paarpagatl erpktlspgk ngvvkdvfaf ggavenpeyl tpqggaapqp hpppafspaf
      901 dnlyywdqdp pergappstf kgtptaenpe ylgldvpv
//
LOCUS       NP_001036                630 aa            linear   PRI 17-APR-2023
DEFINITION  sodium-dependent serotonin transporter [Homo sapiens].
ACCESSION   NP_001036
VERSION     NP_001036.1
DBSOURCE    REFSEQ: accession NM_001045.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 630)
  AUTHORS   Pawlowski T, Malyszczak K, Pawlak D, Inglot M, Zalewska M, Grzywacz
            A, Radkowski M, Laskus T, Janocha-Litwin J and Frydecka D.
  TITLE     HTR1A, TPH2, and 5-HTTLPR Polymorphisms and Their Impact on the
            Severity of Depressive Symptoms and on the Concentration of
            Tryptophan Catabolites during Hepatitis C Treatment with Pegylated
            Interferon-alpha2a and Oral Ribavirin (PEG-IFN-alpha2a/RBV)
  JOURNAL   Cells 12 (6), 970 (2023)
   PUBMED   36980311
  REMARK    GeneRIF: HTR1A, TPH2, and 5-HTTLPR Polymorphisms and Their Impact
            on the Severity of Depressive Symptoms and on the Concentration of
            Tryptophan Catabolites during Hepatitis C Treatment with Pegylated
            Interferon-alpha2a and Oral Ribavirin (PEG-IFN-alpha2a/RBV).
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 630)
  AUTHORS   Arslan B, Dogan G, Orenay-Boyacioglu S, Caliskan M and Elevli M.
  TITLE     Serotonin, ghrelin, and motilin gene/receptor/transporter
            polymorphisms in childhood functional constipation
  JOURNAL   Rev Assoc Med Bras (1992) 69 (2), 279-284 (2023)
   PUBMED   36888769
  REMARK    GeneRIF: Serotonin, ghrelin, and motilin gene/receptor/transporter
            polymorphisms in childhood functional constipation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 630)
  AUTHORS   Franzago M, Orecchini E, Porreca A, Mondanelli G, Orabona C, Dalla
            Ragione L, Di Nicola M, Stuppia L, Vitacolonna E, Beccari T and
            Ceccarini MR.
  TITLE     SLC6A4 DNA Methylation Levels and Serum Kynurenine/Tryptophan Ratio
            in Eating Disorders: A Possible Link with Psychopathological
            Traits?
  JOURNAL   Nutrients 15 (2), 406 (2023)
   PUBMED   36678277
  REMARK    GeneRIF: SLC6A4 DNA Methylation Levels and Serum
            Kynurenine/Tryptophan Ratio in Eating Disorders: A Possible Link
            with Psychopathological Traits?
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 630)
  AUTHORS   Sikander A, Rana SV, Sinha SK, Prasad KK and Arora SK.
  TITLE     Association of serotonin transporter promoter polymorphism
            (5-HTTLPR) with orocecal transit time in irritable bowel syndrome
  JOURNAL   Indian J Gastroenterol 41 (6), 610-617 (2022)
   PUBMED   36573962
  REMARK    GeneRIF: Association of serotonin transporter promoter polymorphism
            (5-HTTLPR) with orocecal transit time in irritable bowel syndrome.
REFERENCE   5  (residues 1 to 630)
  AUTHORS   Nazzari S, Grumi S, Mambretti F, Villa M, Giorda R and Provenzi L.
  CONSRTM   MOM-COPE Study Group
  TITLE     Maternal and infant NR3C1 and SLC6A4 epigenetic signatures of the
            COVID-19 pandemic lockdown: when timing matters
  JOURNAL   Transl Psychiatry 12 (1), 386 (2022)
   PUBMED   36114180
  REMARK    GeneRIF: Maternal and infant NR3C1 and SLC6A4 epigenetic signatures
            of the COVID-19 pandemic lockdown: when timing matters.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 630)
  AUTHORS   Gelernter J, Pakstis AJ and Kidd KK.
  TITLE     Linkage mapping of serotonin transporter protein gene SLC6A4 on
            chromosome 17
  JOURNAL   Hum Genet 95 (6), 677-680 (1995)
   PUBMED   7789954
REFERENCE   7  (residues 1 to 630)
  AUTHORS   Lesch KP, Balling U, Gross J, Strauss K, Wolozin BL, Murphy DL and
            Riederer P.
  TITLE     Organization of the human serotonin transporter gene
  JOURNAL   J Neural Transm Gen Sect 95 (2), 157-162 (1994)
   PUBMED   7865169
REFERENCE   8  (residues 1 to 630)
  AUTHORS   Lesch KP, Wolozin BL, Murphy DL and Reiderer P.
  TITLE     Primary structure of the human platelet serotonin uptake site:
            identity with the brain serotonin transporter
  JOURNAL   J Neurochem 60 (6), 2319-2322 (1993)
   PUBMED   7684072
REFERENCE   9  (residues 1 to 630)
  AUTHORS   Ramamoorthy S, Bauman AL, Moore KR, Han H, Yang-Feng T, Chang AS,
            Ganapathy V and Blakely RD.
  TITLE     Antidepressant- and cocaine-sensitive human serotonin transporter:
            molecular cloning, expression, and chromosomal localization
  JOURNAL   Proc Natl Acad Sci U S A 90 (6), 2542-2546 (1993)
   PUBMED   7681602
REFERENCE   10 (residues 1 to 630)
  AUTHORS   Epshtein,B.V., Nishchenko,V.F. and Timchenko,P.K.
  TITLE     [Hyperbaric oxygenation in the complex treatment of patients with
            diabetes mellitus]
  JOURNAL   Vrach Delo (1), 65-66 (1988)
   PUBMED   3363943
  REMARK    GeneRIF: [Hyperbaric oxygenation in the complex treatment of
            patients with diabetes mellitus].', trans 'Giperbaricheskaia
            oksigenatsiia v kompleknom lechenii bol'nykh sakharnym diabetom.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC345903.1, AC104984.14,
            AK313166.1, AY902473.1 and BE645279.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes an integral membrane protein that
            transports the neurotransmitter serotonin from synaptic spaces into
            presynaptic neurons. The encoded protein terminates the action of
            serotonin and recycles it in a sodium-dependent manner. This
            protein is a target of psychomotor stimulants, such as amphetamines
            and cocaine, and is a member of the sodium:neurotransmitter
            symporter family. A repeat length polymorphism in the promoter of
            this gene has been shown to affect the rate of serotonin uptake.
            There have been conflicting results in the literature about the
            possible effect, if any, that this polymorphism may play in
            behavior and depression. [provided by RefSeq, May 2019].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments. There is an
            upstream in-frame AUG at nt 451-453 with a weak Kozak signal. This
            was not annotated as the translation start because it has a weak
            Kozak signal, while the downstream AUG at nt 577-579 has a strong
            Kozak signal, and is not conserved in-frame in other vertebrates
            except chimp.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK313166.1, AK308014.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000650711.1/
                                                ENSP00000498537.1
            RefSeq Select criteria           :: based on single protein-coding
                                                transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..630
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     Protein         1..630
                     /product="sodium-dependent serotonin transporter"
                     /note="5HT transporter; Na+/Cl- dependent serotonin
                     transporter; solute carrier family 6 (neurotransmitter
                     transporter, serotonin), member 4; serotonin transporter
                     1; 5-hydroxytryptamine (serotonin) transporter; solute
                     carrier family 6 (neurotransmitter transporter), member 4"
                     /calculated_mol_wt=70194
     Region          1..59
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1)"
     Region          24..64
                     /region_name="5HT_transport_N"
                     /note="Serotonin (5-HT) neurotransmitter transporter,
                     N-terminus; pfam03491"
                     /db_xref="CDD:397524"
     Site            47
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:21992875; propagated from
                     UniProtKB/Swiss-Prot (P31645.1)"
     Region          79..615
                     /region_name="SLC6sbd_SERT"
                     /note="Na(+)- and Cl(-)-dependent serotonin transporter
                     SERT; solute-binding domain; cd11513"
                     /db_xref="CDD:271399"
     Site            88..112
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1)"
     Site            order(94,97,434,437..438)
                     /site_type="other"
                     /note="Na binding site 2 [ion binding]"
                     /db_xref="CDD:271399"
     Site            order(95..96,98..101,176,335..336,341,343,438,441..442)
                     /site_type="other"
                     /note="putative substrate binding site 1 [chemical
                     binding]"
                     /db_xref="CDD:271399"
     Site            order(96,101,336,368)
                     /site_type="other"
                     /note="Na binding site 1 [ion binding]"
                     /db_xref="CDD:271399"
     Site            order(103..104,175,179,182,403,407)
                     /site_type="other"
                     /note="putative substrate binding site 2 [chemical
                     binding]"
                     /db_xref="CDD:271399"
     Site            116..135
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1)"
     Site            142
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:21992875; propagated from
                     UniProtKB/Swiss-Prot (P31645.1)"
     Site            161..186
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1)"
     Site            208
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255, ECO:0000269|PubMed:27049939;
                     propagated from UniProtKB/Swiss-Prot (P31645.1)"
     Site            217
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255, ECO:0000269|PubMed:27049939;
                     propagated from UniProtKB/Swiss-Prot (P31645.1)"
     Site            253..271
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1)"
     Site            276
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PKG.
                     /evidence=ECO:0000269|PubMed:17913921; propagated from
                     UniProtKB/Swiss-Prot (P31645.1)"
     Site            278..297
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1)"
     Site            325..347
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1)"
     Site            361..380
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1)"
     Site            422..443
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1)"
     Site            464..483
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1)"
     Site            495..516
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1)"
     Site            539..558
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1)"
     Site            575..595
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1)"
     Region          616..624
                     /region_name="Interaction with RAB4A"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1)"
     CDS             1..630
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /coded_by="NM_001045.6:306..2198"
                     /db_xref="CCDS:CCDS11256.1"
                     /db_xref="GeneID:6532"
                     /db_xref="HGNC:HGNC:11050"
                     /db_xref="MIM:182138"
ORIGIN      
        1 mettplnsqk qlsacedged cqengvlqkv vptpgdkves gqisngysav pspgagddtr
       61 hsipattttl vaelhqgere twgkkvdfll svigyavdlg nvwrfpyicy qngggafllp
      121 ytimaifggi plfymelalg qyhrngcisi wrkicpifkg igyaiciiaf yiasyyntim
      181 awalyyliss ftdqlpwtsc knswntgnct nyfsednitw tlhstspaee fytrhvlqih
      241 rskglqdlgg iswqlalcim liftviyfsi wkgvktsgkv vwvtatfpyi ilsvllvrga
      301 tlpgawrgvl fylkpnwqkl letgvwidaa aqiffslgpg fgvllafasy nkfnnncyqd
      361 alvtsvvncm tsfvsgfvif tvlgymaemr nedvsevakd agpsllfity aeaianmpas
      421 tffaiifflm litlgldstf aglegvitav ldefphvwak rrerfvlavv itcffgslvt
      481 ltfggayvvk lleeyatgpa vltvalieav avswfygitq fcrdvkemlg fspgwfwric
      541 wvaisplfll fiicsflmsp pqlrlfqyny pywsiilgyc igtssficip tyiayrliit
      601 pgtfkeriik sitpetptei pcgdirlnav
//
LOCUS       NP_001337054             435 aa            linear   PRI 18-DEC-2022
DEFINITION  estrogen-related receptor gamma isoform 2 [Homo sapiens].
ACCESSION   NP_001337054 XP_016856135
VERSION     NP_001337054.1
DBSOURCE    REFSEQ: accession NM_001350125.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 435)
  AUTHORS   Guo X, Yue L, Li M, Dai A, Sun J, Fang L, Zhao H and Sun Q.
  TITLE     Nuclear receptor estrogen-related receptor gamma suppresses
            colorectal cancer aggressiveness by regulating Wnt/beta-catenin
            signaling
  JOURNAL   Carcinogenesis 43 (9), 865-873 (2022)
   PUBMED   35728800
  REMARK    GeneRIF: Nuclear receptor estrogen-related receptor gamma
            suppresses colorectal cancer aggressiveness by regulating
            Wnt/beta-catenin signaling.
REFERENCE   2  (residues 1 to 435)
  AUTHORS   Zou Z, Harris LK, Forbes K and Heazell AEP.
  TITLE     Sex-specific effects of bisphenol A on the signaling pathway of
            ESRRG in the human placentadagger
  JOURNAL   Biol Reprod 106 (6), 1278-1291 (2022)
   PUBMED   35220427
  REMARK    GeneRIF: Sex-specific effects of bisphenol A on the signaling
            pathway of ESRRG in the human placentadagger.
REFERENCE   3  (residues 1 to 435)
  AUTHORS   Sakamoto T, Batmanov K, Wan S, Guo Y, Lai L, Vega RB and Kelly DP.
  TITLE     The nuclear receptor ERR cooperates with the cardiogenic factor
            GATA4 to orchestrate cardiomyocyte maturation
  JOURNAL   Nat Commun 13 (1), 1991 (2022)
   PUBMED   35418170
  REMARK    GeneRIF: The nuclear receptor ERR cooperates with the cardiogenic
            factor GATA4 to orchestrate cardiomyocyte maturation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 435)
  AUTHORS   Li W, Gong M, Park YP, Elshikha AS, Choi SC, Brown J, Kanda N, Yeh
            WI, Peters L, Titov AA, Teng X, Brusko TM and Morel L.
  TITLE     Lupus susceptibility gene Esrrg modulates regulatory T cells
            through mitochondrial metabolism
  JOURNAL   JCI Insight 6 (14), e143540 (2021)
   PUBMED   34156979
  REMARK    GeneRIF: Lupus susceptibility gene Esrrg modulates regulatory T
            cells through mitochondrial metabolism.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 435)
  AUTHORS   Kim BE, Choi B, Park WR, Kim YJ, Kim IY, Jung YS, Kim YH, Lee CH,
            Choi HS and Kim DK.
  TITLE     Orphan Nuclear Receptor ERRgamma Is a Transcriptional Regulator of
            CB1 Receptor-Mediated TFR2 Gene Expression in Hepatocytes
  JOURNAL   Int J Mol Sci 22 (11), 6021 (2021)
   PUBMED   34199599
  REMARK    GeneRIF: Orphan Nuclear Receptor ERRgamma Is a Transcriptional
            Regulator of CB1 Receptor-Mediated TFR2 Gene Expression in
            Hepatocytes.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 435)
  AUTHORS   Greschik H, Wurtz JM, Sanglier S, Bourguet W, van Dorsselaer A,
            Moras D and Renaud JP.
  TITLE     Structural and functional evidence for ligand-independent
            transcriptional activation by the estrogen-related receptor 3
  JOURNAL   Mol Cell 9 (2), 303-313 (2002)
   PUBMED   11864604
  REMARK    GeneRIF: Transcriptional activation by ERR3 can be
            ligand-independent.
REFERENCE   7  (residues 1 to 435)
  AUTHORS   Heard DJ, Norby PL, Holloway J and Vissing H.
  TITLE     Human ERRgamma, a third member of the estrogen receptor-related
            receptor (ERR) subfamily of orphan nuclear receptors:
            tissue-specific isoforms are expressed during development and in
            the adult
  JOURNAL   Mol Endocrinol 14 (3), 382-392 (2000)
   PUBMED   10707956
REFERENCE   8  (residues 1 to 435)
  AUTHORS   Hong H, Yang L and Stallcup MR.
  TITLE     Hormone-independent transcriptional activation and coactivator
            binding by novel orphan nuclear receptor ERR3
  JOURNAL   J Biol Chem 274 (32), 22618-22626 (1999)
   PUBMED   10428842
REFERENCE   9  (residues 1 to 435)
  AUTHORS   Chen F, Zhang Q, McDonald T, Davidoff MJ, Bailey W, Bai C, Liu Q
            and Caskey CT.
  TITLE     Identification of two hERR2-related novel nuclear receptors
            utilizing bioinformatics and inverse PCR
  JOURNAL   Gene 228 (1-2), 101-109 (1999)
   PUBMED   10072763
REFERENCE   10 (residues 1 to 435)
  AUTHORS   Eudy JD, Yao S, Weston MD, Ma-Edmonds M, Talmadge CB, Cheng JJ,
            Kimberling WJ and Sumegi J.
  TITLE     Isolation of a gene encoding a novel member of the nuclear receptor
            superfamily from the critical region of Usher syndrome type IIa at
            1q41
  JOURNAL   Genomics 50 (3), 382-384 (1998)
   PUBMED   9676434
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA096417.1, DB220304.1,
            CA397450.1, AB020639.1 and BU752915.1.
            On Apr 7, 2017 this sequence version replaced XP_016856135.1.
            
            Summary: This gene encodes a member of the estrogen
            receptor-related receptor (ESRR) family, which belongs to the
            nuclear hormone receptor superfamily. All members of the ESRR
            family share an almost identical DNA binding domain, which is
            composed of two C4-type zinc finger motifs. The ESRR members are
            orphan nuclear receptors; they bind to the estrogen response
            element and steroidogenic factor 1 response element, and activate
            genes controlled by both response elements in the absence of any
            ligands. The ESRR family is closely related to the estrogen
            receptor (ER) family. They share target genes, co-regulators and
            promoters, and by targeting the same set of genes, the ESRRs seem
            to interfere with the ER-mediated estrogen response in various
            ways. It has been reported that the family member encoded by this
            gene functions as a transcriptional activator of DNA
            cytosine-5-methyltransferases 1 (Dnmt1) expression by direct
            binding to its response elements in the DNMT1 promoters, modulates
            cell proliferation and estrogen signaling in breast cancer, and
            negatively regulates bone morphogenetic protein 2-induced
            osteoblast differentiation and bone formation. Multiple
            alternatively spliced transcript variants have been identified,
            which mainly differ at the 5' end and some of which encode protein
            isoforms differing in the N-terminal region. [provided by RefSeq,
            Aug 2011].
            
            Transcript Variant: This variant (21) lacks the 5' exon but has
            three alternate 5' exons and uses a downstream AUG start codon,
            compared to variant 1. The resulting isoform (2) is shorter at the
            N-terminus, compared to isoform 1. Variants 2-4, 9-15, and 17-21
            encode the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803616.6451.1, SRR1803612.73108.1
                                    [ECO:0000331]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..435
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q41"
     Protein         1..435
                     /product="estrogen-related receptor gamma isoform 2"
                     /note="estrogen receptor-related protein 3; nuclear
                     receptor subfamily 3 group B member 3; ERR gamma-2"
                     /calculated_mol_wt=48450
     Region          99..195
                     /region_name="NR_DBD_ERR"
                     /note="DNA-binding domain of estrogen related receptors
                     (ERR) is composed of two C4-type zinc fingers; cd07170"
                     /db_xref="CDD:143544"
     Site            order(103,115..118,123..124,126..128,130..131,134,
                     154..155,158,161,175..176,179..186)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143544"
     Site            order(105,108,122,125,141,147,157,160)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143544"
     Region          214..433
                     /region_name="NR_LBD_ERR"
                     /note="The ligand binding domain of estrogen
                     receptor-related nuclear receptors; cd06946"
                     /db_xref="CDD:132744"
     Site            order(242,245,249,252,290,303,307,317..319,412,415,417)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:132744"
     Site            order(257,271,274..275,278..279,425..426,429..430)
                     /site_type="other"
                     /note="coactivator recognition site [polypeptide binding]"
                     /db_xref="CDD:132744"
     Site            353
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:132744"
     CDS             1..435
                     /gene="ESRRG"
                     /gene_synonym="ERR-gamma; ERR3; ERRg; ERRgamma; NR3B3"
                     /coded_by="NM_001350125.2:416..1723"
                     /note="isoform 2 is encoded by transcript variant 21"
                     /db_xref="CCDS:CCDS1517.1"
                     /db_xref="GeneID:2104"
                     /db_xref="HGNC:HGNC:3474"
                     /db_xref="MIM:602969"
ORIGIN      
        1 msnkdrhids scssfiktep sspasltdsv nhhspggssd asgsysstmn ghqngldspp
       61 lypsapilgg sgpvrklydd csstivedpq tkceymlnsm pkrlclvcgd iasgyhygva
      121 sceackaffk rtiqgnieys cpatneceit krrrkscqac rfmkclkvgm lkegvrldrv
      181 rggrqkykrr idaenspyln pqlvqpakkp ynkivshllv aepekiyamp dptvpdsdik
      241 alttlcdlad relvviigwa khipgfstls ladqmsllqs awmeililgv vyrslsfede
      301 lvyaddyimd edqsklagll dlnnailqlv kkyksmklek eefvtlkaia lansdsmhie
      361 dveavqklqd vlhealqdye agqhmedprr agkmlmtlpl lrqtstkavq hfyniklegk
      421 vpmhklflem leakv
//
LOCUS       NP_001353511             903 aa            linear   PRI 24-DEC-2022
DEFINITION  serine/arginine repetitive matrix protein 1 isoform 16 [Homo
            sapiens].
ACCESSION   NP_001353511 XP_016855507
VERSION     NP_001353511.1
DBSOURCE    REFSEQ: accession NM_001366582.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 903)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   2  (residues 1 to 903)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 903)
  AUTHORS   Chwalenia K, Qin F, Singh S and Li H.
  TITLE     A cell-based splicing reporter system to identify regulators of
            cis-splicing between adjacent genes
  JOURNAL   Nucleic Acids Res 47 (4), e24 (2019)
   PUBMED   30590765
  REMARK    GeneRIF: We discovered that two factors, SRRM1 and SF3B1, affect
            not only cis-SAGe chimeras, but also other types of chimeric RNAs
            in a genome-wide fashion.
REFERENCE   4  (residues 1 to 903)
  AUTHORS   Varjosalo M, Keskitalo S, Van Drogen A, Nurkkala H, Vichalkovski A,
            Aebersold R and Gstaiger M.
  TITLE     The protein interaction landscape of the human CMGC kinase group
  JOURNAL   Cell Rep 3 (4), 1306-1320 (2013)
   PUBMED   23602568
REFERENCE   5  (residues 1 to 903)
  AUTHORS   Cheng C and Sharp PA.
  TITLE     Regulation of CD44 alternative splicing by SRm160 and its potential
            role in tumor cell invasion
  JOURNAL   Mol Cell Biol 26 (1), 362-370 (2006)
   PUBMED   16354706
  REMARK    GeneRIF: SRm160, a splicing coactivator, regulates CD44 alternative
            splicing in a Ras-dependent manner.
REFERENCE   6  (residues 1 to 903)
  AUTHORS   Blencowe BJ, Bauren G, Eldridge AG, Issner R, Nickerson JA,
            Rosonina E and Sharp PA.
  TITLE     The SRm160/300 splicing coactivator subunits
  JOURNAL   RNA 6 (1), 111-120 (2000)
   PUBMED   10668804
REFERENCE   7  (residues 1 to 903)
  AUTHORS   Eldridge AG, Li Y, Sharp PA and Blencowe BJ.
  TITLE     The SRm160/300 splicing coactivator is required for exon-enhancer
            function
  JOURNAL   Proc Natl Acad Sci U S A 96 (11), 6125-6130 (1999)
   PUBMED   10339552
REFERENCE   8  (residues 1 to 903)
  AUTHORS   Wilson KF, Fortes P, Singh US, Ohno M, Mattaj IW and Cerione RA.
  TITLE     The nuclear cap-binding complex is a novel target of growth factor
            receptor-coupled signal transduction
  JOURNAL   J Biol Chem 274 (7), 4166-4173 (1999)
   PUBMED   9933612
REFERENCE   9  (residues 1 to 903)
  AUTHORS   Blencowe BJ, Issner R, Nickerson JA and Sharp PA.
  TITLE     A coactivator of pre-mRNA splicing
  JOURNAL   Genes Dev 12 (7), 996-1009 (1998)
   PUBMED   9531537
REFERENCE   10 (residues 1 to 903)
  AUTHORS   Wang HY, Lin W, Dyck JA, Yeakley JM, Songyang Z, Cantley LC and Fu
            XD.
  TITLE     SRPK2: a differentially expressed SR protein-specific kinase
            involved in mediating the interaction and localization of pre-mRNA
            splicing factors in mammalian cells
  JOURNAL   J Cell Biol 140 (4), 737-750 (1998)
   PUBMED   9472028
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL445686.14 and AL445648.18.
            On Oct 11, 2018 this sequence version replaced XP_016855507.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.192684.1,
                                           SRR1803611.107880.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..903
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     Protein         1..903
                     /product="serine/arginine repetitive matrix protein 1
                     isoform 16"
                     /note="serine/arginine repetitive matrix protein 1;
                     Ser/Arg-related nuclear matrix protein; SR-related nuclear
                     matrix protein of 160 kDa"
                     /calculated_mol_wt=102075
     Region          1..156
                     /region_name="Necessary for mRNA 3'-end cleavage and
                     cytoplasmic accumulation"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Region          1..151
                     /region_name="Necessary for DNA and RNA-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.5,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Region          46..115
                     /region_name="PWI"
                     /note="PWI domain; pfam01480"
                     /db_xref="CDD:426282"
     Site            140
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            220
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19367720,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            227
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            234
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            240
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            241
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            260
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            389
                     /site_type="phosphorylation"
                     /note="Phosphoserine. /evidence=ECO:0000269|Ref.5,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            391
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            393
                     /site_type="phosphorylation"
                     /note="Phosphoserine. /evidence=ECO:0000269|Ref.5,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            402
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            406
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            414
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            416
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            420
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            429
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            431
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            436
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            450
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:17924679, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            452
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:17924679, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            463
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            465
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            477
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            523
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            525
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            527
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            529
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            531
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            548
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            550
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            554
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            559
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            561
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            571
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            573
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            580
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            582
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            595
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            596
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            604
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Region          <605..>739
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Site            606
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            613
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            615
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            625
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            627
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            635
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            637
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            693
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            694
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q52KI8; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            695
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            704
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            706
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            712
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            714
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            717
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            737
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            739
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            747
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            751
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            753
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            755
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            768
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            772
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            774
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            776
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            777
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q52KI8; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            780
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            790
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            792
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            794
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            796
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            801
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            871
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18318008, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            873
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18318008, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8IYB3.2)"
     Site            900
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYB3.2)"
     CDS             1..903
                     /gene="SRRM1"
                     /gene_synonym="160-KD; POP101; SRM160"
                     /coded_by="NM_001366582.1:26..2737"
                     /note="isoform 16 is encoded by transcript variant 21"
                     /db_xref="CCDS:CCDS90886.1"
                     /db_xref="GeneID:10250"
                     /db_xref="HGNC:HGNC:16638"
                     /db_xref="MIM:605975"
ORIGIN      
        1 mdagffrgts aeqdnrfsnk qkkllkqlkf aeclekkvdm skvnlevikp witkrvteil
       61 gfeddvvief ifnqlevknp dskmmqinlt gflngknare fmgelwplll saqeniagip
      121 saflelkkee ikqrqieqek lasmkkqded kdkrdkeeke ssrekrersr sprrrksrsp
      181 sprrrsspvr rerkrshsrs prhrtksrsp spapekkekt pelpepsvkv kepsvqeats
      241 tsdilkvpkp epipepkeps peknskkeke kektrprsrs rsksrsrtrs rspshtrprr
      301 rhrsrsrsys prrrpsprrr psprrrtppr rmpppprhrr srspvrrrrr ssaslsgsss
      361 sssssrsrsp pkkppkrtss pprktrrlsp saspprrrhr psppatpppk trhsptpqqs
      421 nrtrksrvsv spgrtsgkvt khkgtekres pspapkprkv elsesedkgg kmaaadsvqq
      481 rrqyrrqnqq sssdsgssss sederpkrsh vkngevgrrr rhspsrsasp sprkrqkets
      541 prgrrrrsps ppptrrrrsp spappprrrr tptppprrrt psppprrrsp sprrysppiq
      601 rryspspppk rrtasppppp krraspsppp krrvshsppp kqrsspvtkr rspslsskhr
      661 kgsspsrstr earspqpnkr hspsprprap qtssspppvr rgassspqrr qspspstrpi
      721 rrvsrtpepk kikkaaspsp qsvrrvsssr svsgspepaa kkppappspv qsqspstnws
      781 pavpvkkaks ptpspspprn sdqegggkkk kkkkdkkhkk dkkhkkhkkh kkekavaaaa
      841 aaavtpaaia aatttlaqee pvaapepkke teseaednld dlekhlreka lrsmrkaqvs
      901 pqs
//
LOCUS       NP_002563                229 aa            linear   PRI 25-DEC-2022
DEFINITION  platelet-activating factor acetylhydrolase IB subunit alpha2
            isoform a [Homo sapiens].
ACCESSION   NP_002563
VERSION     NP_002563.1
DBSOURCE    REFSEQ: accession NM_002572.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 229)
  AUTHORS   Tanigawa K, Kiriya M, Hayashi Y, Shinden Y, Kijima Y, Natsugoe S,
            Sumimoto T, Morimoto-Kamata R, Yui S, Hama K, Yokoyama K, Nakamura
            Y, Suzuki K, Nojiri H, Inoue K and Karasawa K.
  TITLE     Cathepsin G-induced malignant progression of MCF-7 cells involves
            suppression of PAF signaling through induced expression of PAFAH1B2
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1867 (8), 159164 (2022)
   PUBMED   35462067
  REMARK    GeneRIF: Cathepsin G-induced malignant progression of MCF-7 cells
            involves suppression of PAF signaling through induced expression of
            PAFAH1B2.
REFERENCE   2  (residues 1 to 229)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 229)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 229)
  AUTHORS   Ma C, Guo Y, Zhang Y, Duo A, Jia Y, Liu C and Li B.
  TITLE     PAFAH1B2 is a HIF1a target gene and promotes metastasis in
            pancreatic cancer
  JOURNAL   Biochem Biophys Res Commun 501 (3), 654-660 (2018)
   PUBMED   29758199
  REMARK    GeneRIF: PAFAH1B2 overexpression in pancreatic ductal
            adenocarcinoma cells was directly mediated by HIF1a.
REFERENCE   5  (residues 1 to 229)
  AUTHORS   Li M, Zhang X, Liao N, Ye B, Peng Y, Ji Y and Wen F.
  TITLE     Analysis of the Serum Lipid Profile in Polypoidal Choroidal
            Vasculopathy
  JOURNAL   Sci Rep 6, 38342 (2016)
   PUBMED   27910906
  REMARK    GeneRIF: PAF is demonstrated to be the key indicator in the lipid
            metabolism of polypoidal choroidal vasculopathy patients in this
            study.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 229)
  AUTHORS   Scott BT, Olson N, Long GL and Bovill EG.
  TITLE     Novel isoforms of intracellular platelet activating factor
            acetylhydrolase (PAFAH1b2) in human testis; encoded by
            alternatively spliced mRNAs
  JOURNAL   Prostaglandins Other Lipid Mediat 85 (3-4), 69-80 (2008)
   PUBMED   18155631
  REMARK    GeneRIF: splice variants of the Pafah1b2 gene transcript retain
            exons 1-5 and replace exon 6 with alternative exons derived from
            genomic sequence 3' to exon 6. Splice variants encode two proteins
            with different novel carboxy termini
REFERENCE   7  (residues 1 to 229)
  AUTHORS   Sweeney KJ, Clark GD, Prokscha A, Dobyns WB and Eichele G.
  TITLE     Lissencephaly associated mutations suggest a requirement for the
            PAFAH1B heterotrimeric complex in brain development
  JOURNAL   Mech Dev 92 (2), 263-271 (2000)
   PUBMED   10727864
REFERENCE   8  (residues 1 to 229)
  AUTHORS   Moro F, Arrigo G, Fogli A, Bernard L and Carrozzo R.
  TITLE     The beta and gamma subunits of the human platelet-activating factor
            acetyl hydrolase isoform Ib (PAFAH1B2 and PAFAH1B3) map to
            chromosome 11q23 and 19q13.1, respectively
  JOURNAL   Genomics 51 (1), 157-159 (1998)
   PUBMED   9693049
REFERENCE   9  (residues 1 to 229)
  AUTHORS   Adachi H, Tsujimoto M, Hattori M, Arai H and Inoue K.
  TITLE     Differential tissue distribution of the beta- and gamma-subunits of
            human cytosolic platelet-activating factor acetylhydrolase (isoform
            I)
  JOURNAL   Biochem Biophys Res Commun 233 (1), 10-13 (1997)
   PUBMED   9144386
REFERENCE   10 (residues 1 to 229)
  AUTHORS   Albrecht U, Abu-Issa R, Ratz B, Hattori M, Aoki J, Arai H, Inoue K
            and Eichele G.
  TITLE     Platelet-activating factor acetylhydrolase expression and activity
            suggest a link between neuronal migration and platelet-activating
            factor
  JOURNAL   Dev Biol 180 (2), 579-593 (1996)
   PUBMED   8954729
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP005018.1, D63390.1 and DQ836743.1.
            
            Summary: Platelet-activating factor acetylhydrolase (PAFAH)
            inactivates platelet-activating factor (PAF) into acetate and
            LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other
            subunits are alpha and gamma. Multiple alternatively spliced
            transcript variants have been described for this gene. [provided by
            RefSeq, Jan 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and it encodes the longest protein (isoform a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ836743.1, SRR3476690.714208.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000527958.6/ ENSP00000435289.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..229
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     Protein         1..229
                     /product="platelet-activating factor acetylhydrolase IB
                     subunit alpha2 isoform a"
                     /EC_number="3.1.1.47"
                     /note="PAF-AH1b alpha 2 subunit; epididymis secretory
                     protein Li 303; intracellular platelet-activating factor
                     acetylhydrolase alpha 2 subunit; platelet-activating
                     factor acetylhydrolase IB subunit beta; PAFAH subunit
                     beta; PAF-AH subunit beta; PAF-AH 30 kDa subunit; PAF
                     acetylhydrolase 30 kDa subunit; platelet-activating factor
                     acetylhydrolase 1b, catalytic subunit 2 (30kDa);
                     epididymis secretory sperm binding protein;
                     platelet-activating factor acetylhydrolase IB subunit
                     alpha2"
                     /calculated_mol_wt=25438
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P68402.1)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P68402.1)"
     Region          8..217
                     /region_name="PAF_acetylesterase_like"
                     /note="PAF_acetylhydrolase (PAF-AH)_like subfamily of
                     SGNH-hydrolases. Platelet-activating factor (PAF) and
                     PAF-AH are key players in inflammation and in
                     atherosclerosis. PAF-AH is a calcium independent
                     phospholipase A2 which exhibits strong substrate...;
                     cd01820"
                     /db_xref="CDD:238858"
     Site            order(48,75,105,193,196)
                     /site_type="active"
                     /db_xref="CDD:238858"
     Site            order(48,193,196)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:238858"
     Site            order(48,75,105)
                     /site_type="active"
                     /note="oxyanion hole [active]"
                     /db_xref="CDD:238858"
     Site            order(49,104,195)
                     /site_type="active"
                     /note="specificity pocket [active]"
                     /db_xref="CDD:238858"
     Site            64
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P68402.1)"
     Site            220
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q61206; propagated from
                     UniProtKB/Swiss-Prot (P68402.1)"
     CDS             1..229
                     /gene="PAFAH1B2"
                     /gene_synonym="HEL-S-303"
                     /coded_by="NM_002572.4:140..829"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS8380.1"
                     /db_xref="GeneID:5049"
                     /db_xref="HGNC:HGNC:8575"
                     /db_xref="MIM:602508"
ORIGIN      
        1 msqgdsnpaa iphaaediqg ddrwmsqhnr fvldckdkep dvlfvgdsmv qlmqqyeiwr
       61 elfsplhaln fgiggdttrh vlwrlkngel enikpkvivv wvgtnnhent aeevaggiea
      121 ivqlintrqp qakiivlgll prgekpnplr qknakvnqll kvslpklanv qlldtdggfv
      181 hsdgaischd mfdflhltgg gyakickplh elimqlleet peekqttia
//
LOCUS       NP_001161693            1820 aa            linear   PRI 25-DEC-2022
DEFINITION  cation channel sperm-associated targeting subunit tau isoform 1
            [Homo sapiens].
ACCESSION   NP_001161693
VERSION     NP_001161693.1
DBSOURCE    REFSEQ: accession NM_001168221.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1820)
  AUTHORS   Hwang JY, Wang H, Lu Y, Ikawa M and Chung JJ.
  TITLE     C2cd6-encoded CatSpertau targets sperm calcium channel to Ca2+
            signaling domains in the flagellar membrane
  JOURNAL   Cell Rep 38 (3), 110226 (2022)
   PUBMED   34998468
REFERENCE   2  (residues 1 to 1820)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 1820)
  AUTHORS   Lin WY, Camp NJ, Ghoussaini M, Beesley J, Michailidou K, Hopper JL,
            Apicella C, Southey MC, Stone J, Schmidt MK, Broeks A, Van't Veer
            LJ, Th Rutgers EJ, Muir K, Lophatananon A, Stewart-Brown S,
            Siriwanarangsan P, Fasching PA, Haeberle L, Ekici AB, Beckmann MW,
            Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Bolla MK, Wang
            Q, Dennis J, Sawyer EJ, Cheng T, Tomlinson I, Kerin MJ, Miller N,
            Marme F, Surowy HM, Burwinkel B, Guenel P, Truong T, Menegaux F,
            Mulot C, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Benitez
            J, Zamora MP, Arias Perez JI, Menendez P, Gonzalez-Neira A, Pita G,
            Alonso MR, Alvarez N, Herrero D, Anton-Culver H, Brenner H,
            Dieffenbach AK, Arndt V, Stegmaier C, Meindl A, Lichtner P,
            Schmutzler RK, Muller-Myhsok B, Brauch H, Bruning T, Ko YD, Tessier
            DC, Vincent D, Bacot F, Nevanlinna H, Aittomaki K, Blomqvist C,
            Khan S, Matsuo K, Ito H, Iwata H, Horio A, Bogdanova NV,
            Antonenkova NN, Dork T, Lindblom A, Margolin S, Mannermaa A, Kataja
            V, Kosma VM, Hartikainen JM, Wu AH, Tseng CC, Van Den Berg D, Stram
            DO, Neven P, Wauters E, Wildiers H, Lambrechts D, Chang-Claude J,
            Rudolph A, Seibold P, Flesch-Janys D, Radice P, Peterlongo P,
            Manoukian S, Bonanni B, Couch FJ, Wang X, Vachon C, Purrington K,
            Giles GG, Milne RL, Mclean C, Haiman CA, Henderson BE, Schumacher
            F, Le Marchand L, Simard J, Goldberg MS, Labreche F, Dumont M, Teo
            SH, Yip CH, Hassan N, Vithana EN, Kristensen V, Zheng W,
            Deming-Halverson S, Shrubsole MJ, Long J, Winqvist R, Pylkas K,
            Jukkola-Vuorinen A, Kauppila S, Andrulis IL, Knight JA, Glendon G,
            Tchatchou S, Devilee P, Tollenaar RA, Seynaeve C, Van Asperen CJ,
            Garcia-Closas M, Figueroa J, Lissowska J, Brinton L, Czene K,
            Darabi H, Eriksson M, Brand JS, Hooning MJ, Hollestelle A, Van Den
            Ouweland AM, Jager A, Li J, Liu J, Humphreys K, Shu XO, Lu W, Gao
            YT, Cai H, Cross SS, Reed MW, Blot W, Signorello LB, Cai Q, Pharoah
            PD, Perkins B, Shah M, Blows FM, Kang D, Yoo KY, Noh DY, Hartman M,
            Miao H, Chia KS, Putti TC, Hamann U, Luccarini C, Baynes C, Ahmed
            S, Maranian M, Healey CS, Jakubowska A, Lubinski J,
            Jaworska-Bieniek K, Durda K, Sangrajrang S, Gaborieau V, Brennan P,
            Mckay J, Slager S, Toland AE, Yannoukakos D, Shen CY, Hsiung CN, Wu
            PE, Ding SL, Ashworth A, Jones M, Orr N, Swerdlow AJ, Tsimiklis H,
            Makalic E, Schmidt DF, Bui QM, Chanock SJ, Hunter DJ, Hein R,
            Dahmen N, Beckmann L, Aaltonen K, Muranen TA, Heikkinen T, Irwanto
            A, Rahman N, Turnbull CA, Waisfisz Q, Meijers-Heijboer HE, Adank
            MA, Van Der Luijt RB, Hall P, Chenevix-Trench G, Dunning A, Easton
            DF and Cox A.
  CONSRTM   GENICA Network; kConFab Investigators; Australian Ovarian Cancer
            Study Group; Breast and Ovarian Cancer Susceptibility (BOCS) Study
  TITLE     Identification and characterization of novel associations in the
            CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk
  JOURNAL   Hum Mol Genet 24 (1), 285-298 (2015)
   PUBMED   25168388
REFERENCE   4  (residues 1 to 1820)
  AUTHORS   Jia L, Young MF, Powell J, Yang L, Ho NC, Hotchkiss R, Robey PG and
            Francomano CA.
  TITLE     Gene expression profile of human bone marrow stromal cells:
            high-throughput expressed sequence tag sequencing analysis
  JOURNAL   Genomics 79 (1), 7-17 (2002)
   PUBMED   11827452
REFERENCE   5  (residues 1 to 1820)
  AUTHORS   Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS,
            Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA,
            Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr,
            Scherer SW, Rouleau GA, Hayden MR and Ikeda JE.
  TITLE     A gene encoding a putative GTPase regulator is mutated in familial
            amyotrophic lateral sclerosis 2
  JOURNAL   Nat Genet 29 (2), 166-173 (2001)
   PUBMED   11586298
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007282.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: An autosomal recessive form of juvenile amyotrophic
            lateral sclerosis was originally mapped to a region of chromosome 2
            that includes this gene. The encoded protein contains a
            calcium-dependent membrane targeting C2 domain. This domain is
            often found in proteins that are involved in membrane trafficking
            and signal transduction. [provided by RefSeq, Jun 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX648732.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000439140.6/ ENSP00000409937.1
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1820
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     Protein         1..1820
                     /product="cation channel sperm-associated targeting
                     subunit tau isoform 1"
                     /note="amyotrophic lateral sclerosis 2 chromosomal region
                     candidate gene 11 protein; amyotrophic lateral sclerosis 2
                     (juvenile) chromosome region, candidate 11; testicular
                     tissue protein Li 16; amyotrophic lateral sclerosis 2
                     chromosome region candidate 11; C2 calcium-dependent
                     domain-containing protein 6; catSper-tau; cation channel
                     sperm-associated targeting subunit tau"
                     /calculated_mol_wt=208926
     Region          84..502
                     /region_name="ALS2CR11"
                     /note="Amyotrophic lateral sclerosis 2 candidate 11;
                     pfam15729"
                     /db_xref="CDD:434889"
     Region          360..383
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53TS8.2)"
     Region          403..443
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53TS8.2)"
     Region          695..722
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53TS8.2)"
     Region          838..857
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53TS8.2)"
     CDS             1..1820
                     /gene="C2CD6"
                     /gene_synonym="ALS2CR11; SPGF68"
                     /coded_by="NM_001168221.2:49..5511"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS54430.1"
                     /db_xref="GeneID:151254"
                     /db_xref="HGNC:HGNC:14438"
                     /db_xref="MIM:619776"
ORIGIN      
        1 meppqetnrp fstldnrsgq vqvlsatpll qrnpysspdi mhikgseass vpyalnqgtt
       61 alpknknqeg tghrllnmlr ktlkesdsee leitqetpnl vpfgdvvgcl gihikncrhf
      121 mpkislqhya nlfirisink avkctkmcsl lskndekntv ikfdevkyfs vqvprryddk
      181 rnnilleliq ydnrekrafl lgsvqihlye viqkgcfiee vqvlhgnifv crlevefmfs
      241 ygnfgygfsh qlkplqkite psmfmnlapp pertdpvtkv itpqtveypa flspdlnvtv
      301 gtpavqssnq psvvrleklq qqprerlekm kkeyrnlntw idkanylesi lmpklehkds
      361 eetnidease ntksnhpeee lenivgvdip lvneeaetta nelldndsek gltiptlnqs
      421 dqdnstadas kndestpspt evhslctisn qetikagrip plgerqsesm pdrkmknvff
      481 plevklkdny psilkadssl sevafspkey nspsfrpeyi efkpkfqfqk fnkngfdpfl
      541 rninkmsvrk rkdqdiykyr nilgaevieh edqdppypaq sktagpantt wahdpniftt
      601 kmletenkla pdptintikg ldtknslken lpnvslpsik gessragnvq antchlsksl
      661 nftphieylk qsmilksils enlqdlsdkl fskpevsmns earekssspl lsihdkssss
      721 mednvlekkq dlnnwlsekd ilnskttlsq iiknipadsf segsqiieni padslleggq
      781 viknipeysl seggqiikni padsflesgp gqspeveehv skkhfeader dfpikknsst
      841 kkkhlisevp nsksgssgtv hdyimrqift apifseleie vkepsetpmn lenqlptpwk
      901 rslsshilfh eenadeielp qprsatsqii qafpidtlle sgiikvield kehhkssllg
      961 tgitspkgnl kdsqeyysei rseteplseq sipiipkdtt svsraefiqe dqnmfpqdss
     1021 yysiankely lprngqrlck dkndlsstle sltnslmdkl sesdeimlks flknifnvff
     1081 kynhserrgq pekelerliq psftsdtehl eelqedfdka dkldrkpils pklrvfleel
     1141 sesevkhlks elskqiqhyl verlsesghi tkedlpkiyq nlylmnekae qkgpnsfqgk
     1201 ysetvkeims fvnnfnhhfi dkhleiklrs flkeilqnyf lknisesslf netasetiyp
     1261 nisslrtksv sisfheleqd iskgsfgrrf einmkyplsk slqnylials enellhlkad
     1321 lskhlqslfi eklsksglmt kkqleginqh inllnsssip lkyikthlpf rddchfvekh
     1381 sekqnkysri vqqttlqtvs edklreaeli rekekkyfpl qnlkgnssli keqksyytke
     1441 eaktpslikv qpssneniqa splsksseil tdillkklrk ehvftqlpqa ensvhkteiq
     1501 dpyswggksk itqskawcek tlkmksldrk ehvniykwtv qekpeavlts ypripnarmp
     1561 redeylnrit fpswqsstlt hfntetgeks kledqycqtl kgnnnnnkkh lvtfaqykke
     1621 iqtlyikpde icsekcakfp eiqsfqykvv edeknlkphl fpelfkiedl kpkvrkerdr
     1681 vaqpkksfnk ivrilpttlp ttrihlkksv prtllhwtar rtihdcsdkf edlhdmtsft
     1741 hlkkvksrsr llgkssddih nharhsarpy tapevnkqre sysgkftsrr mvssglvhin
     1801 dktsdyemhk mrpkkikrgy
//
LOCUS       NP_851565                560 aa            linear   PRI 25-DEC-2022
DEFINITION  interleukin-21 receptor isoform 2 precursor [Homo sapiens].
ACCESSION   NP_851565
VERSION     NP_851565.4
DBSOURCE    REFSEQ: accession NM_181079.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 560)
  AUTHORS   Balouchi-Anaraki S, Mohammadsadeghi S, Norouzian M, Rasolmali R,
            Talei AR, Mehdipour F and Ghaderi A.
  TITLE     Expression of Interleukin-21 and Interleukin-21 receptor in
            lymphocytes derived from tumor-draining lymph nodes of breast
            cancer
  JOURNAL   Breast Dis 41 (1), 373-382 (2022)
   PUBMED   36189580
  REMARK    GeneRIF: Expression of Interleukin-21 and Interleukin-21 receptor
            in lymphocytes derived from tumor-draining lymph nodes of breast
            cancer.
REFERENCE   2  (residues 1 to 560)
  AUTHORS   Cagdas D, Mayr D, Baris S, Worley L, Langley DB, Metin A, Aytekin
            ES, Atan R, Kasap N, Bal SK, Dmytrus J, Heredia RJ, Karasu G, Torun
            SH, Toyran M, Karakoc-Aydiner E, Christ D, Kuskonmaz B,
            Uckan-Cetinkaya D, Uner A, Oberndorfer F, Schiefer AI, Uzel G,
            Deenick EK, Keller B, Warnatz K, Neven B, Durandy A, Sanal O, Ma
            CS, Ozen A, Stepensky P, Tezcan I, Boztug K and Tangye SG.
  TITLE     Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21
            Receptor Deficiency
  JOURNAL   J Clin Immunol 41 (6), 1272-1290 (2021)
   PUBMED   33929673
  REMARK    GeneRIF: Genomic Spectrum and Phenotypic Heterogeneity of Human
            IL-21 Receptor Deficiency.
REFERENCE   3  (residues 1 to 560)
  AUTHORS   Dalel J, Ung SK, Hayes P, Black SL, Joseph S, King DF, Makinde J
            and Gilmour J.
  CONSRTM   IAVI Protocol C investigators list
  TITLE     HIV-1 infection and the lack of viral control are associated with
            greater expression of interleukin-21 receptor on CD8+ T cells
  JOURNAL   AIDS 35 (8), 1167-1177 (2021)
   PUBMED   33710028
  REMARK    GeneRIF: HIV-1 infection and the lack of viral control are
            associated with greater expression of interleukin-21 receptor on
            CD8+ T cells.
REFERENCE   4  (residues 1 to 560)
  AUTHORS   Carneiro VL, da Silva HBF, Queiroz GA, Veiga RV, Oliveira PRS,
            Carneiro NVQ, Pires AO, da Silva RR, Sena F, Belitardo E,
            Nascimento R, Silva M, Marques CR, Costa RDS, Alcantra-Neves NM,
            Barreto ML, Cooper PJ and Figueiredo CA.
  TITLE     WSB1 and IL21R Genetic Variants Are Involved in Th2 Immune
            Responses to Ascaris lumbricoides
  JOURNAL   Front Immunol 12, 622051 (2021)
   PUBMED   33692795
  REMARK    GeneRIF: WSB1 and IL21R Genetic Variants Are Involved in Th2 Immune
            Responses to Ascaris lumbricoides.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 560)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 560)
  AUTHORS   Hecker M, Bohnert A, Konig IR, Bein G and Hackstein H.
  TITLE     Novel genetic variation of human interleukin-21 receptor is
            associated with elevated IgE levels in females
  JOURNAL   Genes Immun 4 (3), 228-233 (2003)
   PUBMED   12700598
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 560)
  AUTHORS   Asao H, Okuyama C, Kumaki S, Ishii N, Tsuchiya S, Foster D and
            Sugamura K.
  TITLE     Cutting edge: the common gamma-chain is an indispensable subunit of
            the IL-21 receptor complex
  JOURNAL   J Immunol 167 (1), 1-5 (2001)
   PUBMED   11418623
REFERENCE   8  (residues 1 to 560)
  AUTHORS   Parrish-Novak J, Dillon SR, Nelson A, Hammond A, Sprecher C, Gross
            JA, Johnston J, Madden K, Xu W, West J, Schrader S, Burkhead S,
            Heipel M, Brandt C, Kuijper JL, Kramer J, Conklin D, Presnell SR,
            Berry J, Shiota F, Bort S, Hambly K, Mudri S, Clegg C, Moore M,
            Grant FJ, Lofton-Day C, Gilbert T, Rayond F, Ching A, Yao L, Smith
            D, Webster P, Whitmore T, Maurer M, Kaushansky K, Holly RD and
            Foster D.
  TITLE     Interleukin 21 and its receptor are involved in NK cell expansion
            and regulation of lymphocyte function
  JOURNAL   Nature 408 (6808), 57-63 (2000)
   PUBMED   11081504
REFERENCE   9  (residues 1 to 560)
  AUTHORS   Ozaki K, Kikly K, Michalovich D, Young PR and Leonard WJ.
  TITLE     Cloning of a type I cytokine receptor most related to the IL-2
            receptor beta chain
  JOURNAL   Proc Natl Acad Sci U S A 97 (21), 11439-11444 (2000)
   PUBMED   11016959
REFERENCE   10 (residues 1 to 560)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292663.1, DB115361.1,
            AF269133.1, BC004348.1, AC002303.1 and AW576566.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 30, 2010 this sequence version replaced NP_851565.3.
            
            Summary: The protein encoded by this gene is a cytokine receptor
            for interleukin 21 (IL21). It belongs to the type I cytokine
            receptors, and has been shown to form a heterodimeric receptor
            complex with the common gamma-chain, a receptor subunit also shared
            by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor
            transduces the growth promoting signal of IL21, and is important
            for the proliferation and differentiation of T cells, B cells, and
            natural killer (NK) cells. The ligand binding of this receptor
            leads to the activation of multiple downstream signaling molecules,
            including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a
            similar gene in mouse suggest a role for this gene in regulating
            immunoglobulin production. Three alternatively spliced transcript
            variants have been described. [provided by RefSeq, Jul 2010].
            
            Transcript Variant: This variant (3) has an additional exon in the
            5' region, resulting in an upstream AUG start codon, as compared to
            variant 1. The resulting isoform (2) has a longer N-terminus.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AF269133.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1965299, SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..560
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.1"
     Protein         1..560
                     /product="interleukin-21 receptor isoform 2 precursor"
                     /note="IL-21 receptor; novel interleukin receptor"
                     /calculated_mol_wt=57098
     sig_peptide     1..41
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=4525
     mat_peptide     42..560
                     /product="interleukin-21 receptor isoform 2"
                     /calculated_mol_wt=57098
     Region          142..247
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(142,214,235)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(236..237,239..240)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..560
                     /gene="IL21R"
                     /gene_synonym="CD360; IMD56; NILR"
                     /coded_by="NM_181079.5:537..2219"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 3"
                     /db_xref="GeneID:50615"
                     /db_xref="HGNC:HGNC:6006"
                     /db_xref="MIM:605383"
ORIGIN      
        1 mscrciflmk hgervgwpvg vsmprgwaap llllllqggw gcpdlvcytd ylqtvicile
       61 mwnlhpstlt ltwqdqyeel kdeatscslh rsahnathat ytchmdvfhf maddifsvni
      121 tdqsgnysqe cgsfllaesi kpappfnvtv tfsgqynisw rsdyedpafy mlkgklqyel
      181 qyrnrgdpwa vsprrklisv dsrsvsllpl efrkdssyel qvragpmpgs syqgtwsews
      241 dpvifqtqse elkegwnphl llllllvivf ipafwslkth plwrlwkkiw avpsperffm
      301 plykgcsgdf kkwvgapftg sslelgpwsp evpstlevys chpprspakr lqltelqepa
      361 elvesdgvpk psfwptaqns ggsayseerd rpyglvsidt vtvldaegpc twpcsceddg
      421 ypaldldagl epspgledpl ldagttvlsc gcvsagspgl ggplgslldr lkppladged
      481 wagglpwggr spggvsesea gsplagldmd tfdsgfvgsd csspvecdft spgdegpprs
      541 ylrqwvvipp plsspgpqas
//
LOCUS       NP_001317213             130 aa            linear   PRI 26-DEC-2022
DEFINITION  mitotic-spindle organizing protein 2B isoform 3 [Homo sapiens].
ACCESSION   NP_001317213 XP_005263852
VERSION     NP_001317213.1
DBSOURCE    REFSEQ: accession NM_001330284.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 130)
  AUTHORS   Wieczorek M, Huang TL, Urnavicius L, Hsia KC and Kapoor TM.
  TITLE     MZT Proteins Form Multi-Faceted Structural Modules in the
            gamma-Tubulin Ring Complex
  JOURNAL   Cell Rep 31 (13), 107791 (2020)
   PUBMED   32610146
  REMARK    GeneRIF: MZT Proteins Form Multi-Faceted Structural Modules in the
            gamma-Tubulin Ring Complex.
REFERENCE   2  (residues 1 to 130)
  AUTHORS   Liu X, Salokas K, Tamene F, Jiu Y, Weldatsadik RG, Ohman T and
            Varjosalo M.
  TITLE     An AP-MS- and BioID-compatible MAC-tag enables comprehensive
            mapping of protein interactions and subcellular localizations
  JOURNAL   Nat Commun 9 (1), 1188 (2018)
   PUBMED   29568061
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 130)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (residues 1 to 130)
  AUTHORS   Jakobsen L, Vanselow K, Skogs M, Toyoda Y, Lundberg E, Poser I,
            Falkenby LG, Bennetzen M, Westendorf J, Nigg EA, Uhlen M, Hyman AA
            and Andersen JS.
  TITLE     Novel asymmetrically localizing components of human centrosomes
            identified by complementary proteomics methods
  JOURNAL   EMBO J 30 (8), 1520-1535 (2011)
   PUBMED   21399614
REFERENCE   5  (residues 1 to 130)
  AUTHORS   Hutchins JR, Toyoda Y, Hegemann B, Poser I, Heriche JK, Sykora MM,
            Augsburg M, Hudecz O, Buschhorn BA, Bulkescher J, Conrad C,
            Comartin D, Schleiffer A, Sarov M, Pozniakovsky A, Slabicki MM,
            Schloissnig S, Steinmacher I, Leuschner M, Ssykor A, Lawo S,
            Pelletier L, Stark H, Nasmyth K, Ellenberg J, Durbin R, Buchholz F,
            Mechtler K, Hyman AA and Peters JM.
  TITLE     Systematic analysis of human protein complexes identifies
            chromosome segregation proteins
  JOURNAL   Science 328 (5978), 593-599 (2010)
   PUBMED   20360068
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018804.9.
            On Aug 20, 2016 this sequence version replaced XP_005263852.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HY349844.1, HY153834.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..130
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.1"
     Protein         1..130
                     /product="mitotic-spindle organizing protein 2B isoform 3"
                     /note="mitotic-spindle organizing protein associated with
                     a ring of gamma-tubulin 2B; family with sequence
                     similarity 128, member B"
                     /calculated_mol_wt=14019
     Region          9..>57
                     /region_name="MOZART2"
                     /note="Mitotic-spindle organizing gamma-tubulin ring
                     associated; pfam12926"
                     /db_xref="CDD:432879"
     Site            34
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q6NZ67.1)"
     CDS             1..130
                     /gene="MZT2B"
                     /gene_synonym="FAM128B; MOZART2B"
                     /coded_by="NM_001330284.2:22..414"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:80097"
                     /db_xref="HGNC:HGNC:25886"
                     /db_xref="MIM:613450"
ORIGIN      
        1 maaqgvgpgp gsaappglea arqklalrrk kvlsteemel yelaqaagga idpdvfkekq
       61 rqrcprgsig pggtqqprri qpedatpaqr yqaaqggraw eepytgqhlg wgrdllhlcp
      121 qqrlhvtsfn
//
LOCUS       NP_932164                338 aa            linear   PRI 26-DEC-2022
DEFINITION  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 2
            precursor [Homo sapiens].
ACCESSION   NP_932164
VERSION     NP_932164.1
DBSOURCE    REFSEQ: accession NM_198047.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 338)
  AUTHORS   Marti-Sanchez L, Baide-Mairena H, Marce-Grau A, Pons R, Skouma A,
            Lopez-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D,
            Carrozzo R, Dionisi-Vici C, Gonzalez-Gutierrez-Solana L,
            Correa-Vela M, Ortigoza-Escobar JD, Sanchez-Montanez A, Vazquez E,
            Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L,
            Galosi S, Leuzzi V, Tolve M, Perez-Gay L, Aldamiz-Echevarria L, Del
            Toro M, Arranz A, Roelens F, Urreizti R, Artuch R, Macaya A and
            Perez-Duenas B.
  TITLE     Delineating the neurological phenotype in children with defects in
            the ECHS1 or HIBCH gene
  JOURNAL   J Inherit Metab Dis 44 (2), 401-414 (2021)
   PUBMED   32677093
  REMARK    GeneRIF: Delineating the neurological phenotype in children with
            defects in the ECHS1 or HIBCH gene.
REFERENCE   2  (residues 1 to 338)
  AUTHORS   Shan Y, Gao Y, Jin W, Fan M, Wang Y, Gu Y, Shan C, Sun L, Li X, Yu
            B, Luo Q and Xu Q.
  TITLE     Targeting HIBCH to reprogram valine metabolism for the treatment of
            colorectal cancer
  JOURNAL   Cell Death Dis 10 (8), 618 (2019)
   PUBMED   31409769
  REMARK    GeneRIF: The present study identified HIBCH as a critical enzyme of
            valine catabolism in colorectal cancer progression.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 338)
  AUTHORS   Dalmia A, Dib MJ, Maude H, Harrington DJ, Sobczynska-Malefora A,
            Andrew T and Ahmadi KR.
  TITLE     A genetic epidemiological study in British adults and older adults
            shows a high heritability of the combined indicator of vitamin B12
            status (cB12) and connects B12 status with utilization of
            mitochondrial substrates and energy metabolism
  JOURNAL   J Nutr Biochem 70, 156-163 (2019)
   PUBMED   31203192
  REMARK    GeneRIF: A genetic epidemiological study in British adults and
            older adults shows a high heritability of the combined indicator of
            vitamin B12 status (cB12) and connects B12 status with utilization
            of mitochondrial substrates and energy metabolism.
REFERENCE   4  (residues 1 to 338)
  AUTHORS   Schottmann G, Sarpong A, Lorenz C, Weinhold N, Gill E, Teschner L,
            Ferdinandusse S, Wanders RJ, Prigione A and Schuelke M.
  TITLE     A movement disorder with dystonia and ataxia caused by a mutation
            in the HIBCH gene
  JOURNAL   Mov Disord 31 (11), 1733-1739 (2016)
   PUBMED   27400804
  REMARK    GeneRIF: Novel (founder) mutation in HIBCH that causes a mild
            phenotype, allowing survival into adulthood.
REFERENCE   5  (residues 1 to 338)
  AUTHORS   Molloy AM, Pangilinan F, Mills JL, Shane B, O'Neill MB, McGaughey
            DM, Velkova A, Abaan HO, Ueland PM, McNulty H, Ward M, Strain JJ,
            Cunningham C, Casey M, Cropp CD, Kim Y, Bailey-Wilson JE, Wilson AF
            and Brody LC.
  TITLE     A Common Polymorphism in HIBCH Influences Methylmalonic Acid
            Concentrations in Blood Independently of Cobalamin
  JOURNAL   Am J Hum Genet 98 (5), 869-882 (2016)
   PUBMED   27132595
  REMARK    GeneRIF: Polymorphism in HIBCH is associated with HIBCH deficiency.
REFERENCE   6  (residues 1 to 338)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 338)
  AUTHORS   Wu C, Ma MH, Brown KR, Geisler M, Li L, Tzeng E, Jia CY, Jurisica I
            and Li SS.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
REFERENCE   8  (residues 1 to 338)
  AUTHORS   Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK,
            Thorburn DR, Harris RA, Duran M, Desousa C, Krywawych S, Heales SJ
            and Wanders RJ.
  TITLE     Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase
            results in progressive infantile neurodegeneration
  JOURNAL   Am J Hum Genet 80 (1), 195-199 (2007)
   PUBMED   17160907
  REMARK    GeneRIF: Molecular analysis in both patients uncovered mutations in
            the HIBCH gene, including one missense mutation in a conserved part
            of the protein and two mutations affecting splicing.
REFERENCE   9  (residues 1 to 338)
  AUTHORS   Ishigure K, Shimomura Y, Murakami T, Kaneko T, Takeda S, Inoue S,
            Nomoto S, Koshikawa K, Nonami T and Nakao A.
  TITLE     Human liver disease decreases methacrylyl-CoA hydratase and
            beta-hydroxyisobutyryl-CoA hydrolase activities in valine
            catabolism
  JOURNAL   Clin Chim Acta 312 (1-2), 115-121 (2001)
   PUBMED   11580916
REFERENCE   10 (residues 1 to 338)
  AUTHORS   Hawes JW, Jaskiewicz J, Shimomura Y, Huang B, Bunting J, Harper ET
            and Harris RA.
  TITLE     Primary structure and tissue-specific expression of human
            beta-hydroxyisobutyryl-coenzyme A hydrolase
  JOURNAL   J Biol Chem 271 (42), 26430-26434 (1996)
   PUBMED   8824301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092178.4, BC005190.1,
            AK223023.1 and AC010679.6.
            
            Summary: This gene encodes the enzyme responsible for hydrolysis of
            both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this
            gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase
            deficiency. Alternative splicing results in multiple transcript
            variants.[provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (2) lacks an exon in the 3' coding
            region, which results in a frameshift and an early stop codon,
            compared to variant 1. The encoded isoform (2) has a distinct
            C-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.102143.1,
                                           SRR14038193.1102044.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..338
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     Protein         1..338
                     /product="3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
                     isoform 2 precursor"
                     /EC_number="3.1.2.4"
                     /note="3-hydroxyisobutyryl-Coenzyme A hydrolase;
                     3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; HIB-CoA
                     hydrolase; HIBYL-CoA-H; testicular tissue protein Li 86"
                     /calculated_mol_wt=34015
     transit_peptide 1..32
                     /calculated_mol_wt=4016
     mat_peptide     33..338
                     /product="3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
                     isoform 2"
                     /calculated_mol_wt=34015
     Region          47..337
                     /region_name="ECH_2"
                     /note="Enoyl-CoA hydratase/isomerase; pfam16113"
                     /db_xref="CDD:435145"
     Site            55
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8QZS1; propagated from
                     UniProtKB/Swiss-Prot (Q6NVY1.2)"
     Site            order(57,59,92,96..100,142,144..146,168..169,172)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:119339"
     Site            92
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q6NVY1.2)"
     Site            order(98,146)
                     /site_type="active"
                     /note="oxyanion hole (OAH) forming residues [active]"
                     /db_xref="CDD:119339"
     Site            order(126,134,155..158,170..173,179,181..183,185..186,
                     190..191,193..194,196..197,200,211,214)
                     /site_type="other"
                     /note="trimer interface [polypeptide binding]"
                     /db_xref="CDD:119339"
     Site            221
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8QZS1; propagated from
                     UniProtKB/Swiss-Prot (Q6NVY1.2)"
     Site            234
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6NVY1.2)"
     Site            297
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8QZS1; propagated from
                     UniProtKB/Swiss-Prot (Q6NVY1.2)"
     CDS             1..338
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /coded_by="NM_198047.3:77..1093"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS46475.1"
                     /db_xref="GeneID:26275"
                     /db_xref="HGNC:HGNC:4908"
                     /db_xref="MIM:610690"
ORIGIN      
        1 mgqremwrlm srfnafkrtn tilhhlrmsk htdaaeevll ekkgctgvit lnrpkflnal
       61 tlnmirqiyp qlkkweqdpe tfliiikgag gkafcaggdi rviseaekak qkiapvffre
      121 eymlnnavgs cqkpyvalih gitmgggvgl svhgqfrvat ekclfampet aiglfpdvgg
      181 gyflprlqgk lgyflaltgf rlkgrdvyra giathfvdse klamleedll alkspskeni
      241 asvlenyhte skidrdksfi leehmdkins cfsantveei ienlqqdgss faleqlkvin
      301 kmsptslkit lrqlmegssk tlqevltmey rlsqacmf
//
LOCUS       NP_001340113             321 aa            linear   PRI 26-DEC-2022
DEFINITION  transmembrane and ubiquitin-like domain-containing protein 2
            isoform b [Homo sapiens].
ACCESSION   NP_001340113 XP_011523500
VERSION     NP_001340113.1
DBSOURCE    REFSEQ: accession NM_001353184.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 321)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 321)
  AUTHORS   Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X,
            Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X,
            Xu H, Guo M, Pan Z, Chen Y, Ge C, Yang S and Gu J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   3  (residues 1 to 321)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004596.2.
            On Jun 30, 2017 this sequence version replaced XP_011523500.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.663.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..321
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..321
                     /product="transmembrane and ubiquitin-like
                     domain-containing protein 2 isoform b"
                     /note="transmembrane and ubiquitin-like domain-containing
                     protein 2"
                     /calculated_mol_wt=33657
     Site            36..56
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q71RG4.2)"
     Region          87..131
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q71RG4.2)"
     Region          145..170
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q71RG4.2)"
     Region          173..243
                     /region_name="Ubl_TMUB2"
                     /note="ubiquitin-like (Ubl) domain found in transmembrane
                     and ubiquitin-like domain-containing protein 2 (TMUB2);
                     cd17132"
                     /db_xref="CDD:340652"
     Site            266..286
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q71RG4.2)"
     Site            295..315
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q71RG4.2)"
     CDS             1..321
                     /gene="TMUB2"
                     /gene_synonym="FP2653"
                     /coded_by="NM_001353184.2:507..1472"
                     /note="isoform b is encoded by transcript variant 20"
                     /db_xref="CCDS:CCDS54134.1"
                     /db_xref="GeneID:79089"
                     /db_xref="HGNC:HGNC:28459"
ORIGIN      
        1 misrhlqnnl msvdpassqa melsdvtlie gvgnevmvva gvvvlilalv lawlstyvad
       61 sgsnqllgai vsagdtsvlh lghvdhlvag qgnpeptelp hpsegndeka eeagegrgds
      121 tgeagagggv epslehlldi qglpkrqaga gssspeaplr sedstclpps pglitvrlkf
      181 lndteelava rpedtvgalk skyfpgqesq mkliyqgrll qdpartlrsl nitdncvihc
      241 hrsppgsavp gpsaslapsa teppslgvnv gslmvpvfvv llgvvwyfri nyrqfftapa
      301 tvslvgvtvf fsflvfgmyg r
//
LOCUS       NP_001303905             145 aa            linear   PRI 27-DEC-2022
DEFINITION  protein LZIC isoform d [Homo sapiens].
ACCESSION   NP_001303905 XP_011540600
VERSION     NP_001303905.1
DBSOURCE    REFSEQ: accession NM_001316976.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 145)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 145)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 145)
  AUTHORS   Skalka G, Hall H, Somers J, Bushell M, Willis A and Malewicz M.
  TITLE     Leucine zipper and ICAT domain containing (LZIC) protein regulates
            cell cycle transitions in response to ionizing radiation
  JOURNAL   Cell Cycle 18 (9), 963-975 (2019)
   PUBMED   30973299
  REMARK    GeneRIF: LZIC is functionally involved in cellular response to
            ionizing radiation, and its expression level could serve as a
            biomarker for patient stratification in clinical cancer practice.
REFERENCE   4  (residues 1 to 145)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (residues 1 to 145)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 145)
  AUTHORS   Katoh M.
  TITLE     Molecular cloning and characterization of LZIC, a novel gene
            encoding ICAT homologous protein with leucine zipper domain
  JOURNAL   Int J Mol Med 8 (6), 611-615 (2001)
   PUBMED   11712074
REFERENCE   7  (residues 1 to 145)
  AUTHORS   Claudio JO, Liew CC, Dempsey AA, Cukerman E, Stewart AK, Na E,
            Atkins HL, Iscove NN and Hawley RG.
  TITLE     Identification of sequence-tagged transcripts differentially
            expressed within the human hematopoietic hierarchy
  JOURNAL   Genomics 50 (1), 44-52 (1998)
   PUBMED   9628821
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA538145.1, DB106543.1, AL357140.33 and CB241987.1.
            On Nov 5, 2015 this sequence version replaced XP_011540600.1.
            
            Transcript Variant: This variant (5) differs in the 5' UTR and
            lacks two alternate coding exons compared to variant 1. The
            resulting isoform (d) has a shorter and distinct C-terminus
            compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.11164.1,
                                           SRR1803613.67581.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..145
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     Protein         1..145
                     /product="protein LZIC isoform d"
                     /note="leucine zipper domain and ICAT homologous domain
                     containing; protein LZIC; leucine zipper and CTNNBIP1
                     domain-containing protein; leucine zipper and ICAT
                     homologous domain-containing protein"
                     /calculated_mol_wt=16750
     CDS             1..145
                     /gene="LZIC"
                     /coded_by="NM_001316976.2:211..648"
                     /note="isoform d is encoded by transcript variant 5"
                     /db_xref="GeneID:84328"
                     /db_xref="HGNC:HGNC:17497"
                     /db_xref="MIM:610458"
ORIGIN      
        1 masrgktets klkqnleeql drlmqqlqdl eecreeldtd eyeetkketl eqlsefndsl
       61 kkimsgnmtl vdelsgmqla iqaaisqafk tpevirlfak kqpgqlrtrl aealetkfll
      121 wqvlrlkkqk ndmvqklvtl itflm
//
LOCUS       NP_001268668            1422 aa            linear   PRI 27-DEC-2022
DEFINITION  FH1/FH2 domain-containing protein 3 isoform 2 [Homo sapiens].
ACCESSION   NP_001268668 XP_005258410
VERSION     NP_001268668.1
DBSOURCE    REFSEQ: accession NM_001281739.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1422)
  AUTHORS   Wu G, Ruan J, Liu J, Zhang C, Kang L, Wang J, Zou Y and Song L.
  TITLE     Variant Spectrum of Formin Homology 2 Domain-Containing 3 Gene in
            Chinese Patients With Hypertrophic Cardiomyopathy
  JOURNAL   J Am Heart Assoc 10 (5), e018236 (2021)
   PUBMED   33586461
  REMARK    GeneRIF: Variant Spectrum of Formin Homology 2 Domain-Containing 3
            Gene in Chinese Patients With Hypertrophic Cardiomyopathy.
REFERENCE   2  (residues 1 to 1422)
  AUTHORS   Yu J, Shi W, Zhao R, Shen W and Li H.
  TITLE     FHOD3 promotes carcinogenesis by regulating RhoA/ROCK1/LIMK1
            signaling pathway in medulloblastoma
  JOURNAL   Clin Transl Oncol 22 (12), 2312-2323 (2020)
   PUBMED   32447646
  REMARK    GeneRIF: FHOD3 promotes carcinogenesis by regulating
            RhoA/ROCK1/LIMK1 signaling pathway in medulloblastoma.
REFERENCE   3  (residues 1 to 1422)
  AUTHORS   Ochoa JP, Lopes LR, Perez-Barbeito M, Cazon-Varela L, de la
            Torre-Carpente MM, Sonicheva-Paterson N, De Una-Iglesias D, Quinn
            E, Kuzmina-Krutetskaya S, Garrote JA, Elliott PM and Monserrat L.
  TITLE     Deletions of specific exons of FHOD3 detected by next-generation
            sequencing are associated with hypertrophic cardiomyopathy
  JOURNAL   Clin Genet 98 (1), 86-90 (2020)
   PUBMED   32335906
  REMARK    GeneRIF: Deletions of specific exons of FHOD3 detected by
            next-generation sequencing are associated with hypertrophic
            cardiomyopathy.
REFERENCE   4  (residues 1 to 1422)
  AUTHORS   Iskratsch T, Reijntjes S, Dwyer J, Toselli P, Degano IR, Dominguez
            I and Ehler E.
  TITLE     Two distinct phosphorylation events govern the function of muscle
            FHOD3
  JOURNAL   Cell Mol Life Sci 70 (5), 893-908 (2013)
   PUBMED   23052206
  REMARK    GeneRIF: C-terminal phosphorylation by ROCK1 is sufficient for
            FHOD3 activation as evidenced by an increase in F-actin in HeLa
            cells.
REFERENCE   5  (residues 1 to 1422)
  AUTHORS   Arimura T, Takeya R, Ishikawa T, Yamano T, Matsuo A, Tatsumi T,
            Nomura T, Sumimoto H and Kimura A.
  TITLE     Dilated cardiomyopathy-associated FHOD3 variant impairs the ability
            to induce activation of transcription factor serum response factor
  JOURNAL   Circ J 77 (12), 2990-2996 (2013)
   PUBMED   24088304
  REMARK    GeneRIF: DCM-associated FHOD3 variant may cause DCM by interfering
            with actin filament assembly.
REFERENCE   6  (residues 1 to 1422)
  AUTHORS   Iskratsch T, Lange S, Dwyer J, Kho AL, dos Remedios C and Ehler E.
  TITLE     Formin follows function: a muscle-specific isoform of FHOD3 is
            regulated by CK2 phosphorylation and promotes myofibril maintenance
  JOURNAL   J Cell Biol 191 (6), 1159-1172 (2010)
   PUBMED   21149568
REFERENCE   7  (residues 1 to 1422)
  AUTHORS   Taniguchi K, Takeya R, Suetsugu S, Kan-O M, Narusawa M, Shiose A,
            Tominaga R and Sumimoto H.
  TITLE     Mammalian formin fhod3 regulates actin assembly and sarcomere
            organization in striated muscles
  JOURNAL   J Biol Chem 284 (43), 29873-29881 (2009)
   PUBMED   19706596
  REMARK    GeneRIF: actin dynamics regulated by Fhod3 are critical for
            sarcomere organization in striated muscle cells.
REFERENCE   8  (residues 1 to 1422)
  AUTHORS   French D, Yang W, Cheng C, Raimondi SC, Mullighan CG, Downing JR,
            Evans WE, Pui CH and Relling MV.
  TITLE     Acquired variation outweighs inherited variation in whole genome
            analysis of methotrexate polyglutamate accumulation in leukemia
  JOURNAL   Blood 113 (19), 4512-4520 (2009)
   PUBMED   19066393
  REMARK    GeneRIF: Single nucleotide polymorphism in FHOD3 gene is associated
            with acute lymphoblastic leukemia.
REFERENCE   9  (residues 1 to 1422)
  AUTHORS   Kanaya H, Takeya R, Takeuchi K, Watanabe N, Jing N and Sumimoto H.
  TITLE     Fhos2, a novel formin-related actin-organizing protein, probably
            associates with the nestin intermediate filament
  JOURNAL   Genes Cells 10 (7), 665-678 (2005)
   PUBMED   15966898
REFERENCE   10 (residues 1 to 1422)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of human FHOD3 gene in silico
  JOURNAL   Int J Mol Med 13 (4), 615-620 (2004)
   PUBMED   15010865
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY020952.1, AK128053.1,
            AB084087.1, BC081563.1, AI948493.1 and AC090333.5.
            On Aug 31, 2013 this sequence version replaced XP_005258410.1.
            
            Summary: The protein encoded by this gene is a member of the
            diaphanous-related formins (DRF), and contains multiple domains,
            including GBD (GTPase-binding domain), DID (diaphanous inhibitory
            domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD
            (diaphanous auto-regulatory domain) domains. This protein is
            thought to play a role in actin filament polymerization in
            cardiomyocytes. Mutations in this gene have been associated with
            dilated cardiomyopathy (DCM), characterized by dilation of the
            ventricular chamber, leading to impairment of systolic pump
            function and subsequent heart failure. Increased levels of the
            protein encoded by this gene have been observed in individuals with
            hypertrophic cardiomyopathy (HCM). Alternative splicing results in
            multiple transcript variants encoding different isoforms. A
            muscle-specific isoform has been shown to possess a casein kinase 2
            (CK2) phosphorylation site at the C-terminal end of the FH2 domain.
            Phosphorylation of this site alters its interaction with
            sequestosome 1 (SQSTM1), and targets this isoform to myofibrils,
            while other isoforms form cytoplasmic aggregates. [provided by
            RefSeq, Aug 2015].
            
            Transcript Variant: This variant (2) lacks an in-frame coding exon
            compared to variant 1. The resulting isoform (2) is shorter missing
            an internal protein segment compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB084087.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1422
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.2"
     Protein         1..1422
                     /product="FH1/FH2 domain-containing protein 3 isoform 2"
                     /note="FH1/FH2 domain-containing protein 3; formactin-2;
                     formin homolog overexpressed in spleen 2"
                     /calculated_mol_wt=158483
     Region          6..123
                     /region_name="Formin_GBD_N"
                     /note="Formin N-terminal GTPase-binding domain; pfam18382"
                     /db_xref="CDD:436454"
     Region          323..464
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2V2M9.2)"
     Site            345
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q76LL6; propagated from
                     UniProtKB/Swiss-Prot (Q2V2M9.2)"
     Site            375
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q76LL6; propagated from
                     UniProtKB/Swiss-Prot (Q2V2M9.2)"
     Region          521..666
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2V2M9.2)"
     Region          687..708
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2V2M9.2)"
     Region          754..781
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2V2M9.2)"
     Site            763
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q76LL6; propagated from
                     UniProtKB/Swiss-Prot (Q2V2M9.2)"
     Site            775
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q76LL6; propagated from
                     UniProtKB/Swiss-Prot (Q2V2M9.2)"
     Region          821..850
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2V2M9.2)"
     Region          883..1254
                     /region_name="FH2"
                     /note="Formin Homology 2 Domain; pfam02181"
                     /db_xref="CDD:396655"
     Region          1262..1305
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2V2M9.2)"
     Region          1320..1357
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2V2M9.2)"
     Region          1374..1410
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2V2M9.2)"
     CDS             1..1422
                     /gene="FHOD3"
                     /gene_synonym="CMH28; FHOS2; Formactin2"
                     /coded_by="NM_001281739.3:124..4392"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS62419.1"
                     /db_xref="GeneID:80206"
                     /db_xref="HGNC:HGNC:26178"
                     /db_xref="MIM:609691"
ORIGIN      
        1 matlacrvqf lddtdpfnst nfpepsrppl ftfredlalg tqlagvhrll qaphklddct
       61 lqlshngayl dleatlaeqr delegfqdda grgkkhsiil rtqlsvrvha cieklynssg
      121 rdlrralfsl kqifqddkdl vhefvvaegl tclikvgaea dqnyqnyilr algqimlyvd
      181 gmngvinrne tiqwlytlig skfrlvvkta lklllvfvey sesnaplliq avtavdtkrg
      241 vkpwsnimei leekdgvdte llvyamtlvn ktlsglpdqd tfydvvdcle elgiaavsqr
      301 hlnkkgtdld lveqlniyev alrhedgdet tepppsgcrd rrrasvcssg ggehrgldrr
      361 rsrrhsvqsi kstlsaptsp csqsapsfkp nqvrdlreky snfgnnsyhs srpssgssvp
      421 ttptssvspp qearlerssp sglltssfrq hqeslaaere rrrqereerl qriereernk
      481 frykyleqla aeehekelrs rsvsrgradl sldltspaap aclaplshsp sssdsqealt
      541 vsasspgtph hpqasagdpe peseaepeae agagqvadea gqdiasaheg aeteveqale
      601 qepeerasls ekerqnegvn erdncsassv ssssstlere ekedklsrdr ttglwpagvq
      661 dagvngqcgd iltnkrfmld mlyahnrksp ddeekgdgea grtqqeaeav aslatristl
      721 qansqtqdes vrrvdvgcld nrgsvkafae kfnsgdlgrg sispdaepnd kvpetapvqp
      781 ktesdyiwdq lmanprelri qdmdftdlge eddidvldvd lghreapgpp ppppptflgl
      841 ppppppplld sippppvpgn llvppppvfn apqglgwsqv prgqptftkk kktirlfwne
      901 vrpfdwpckn nrrcreflws klepikvdts rlehlfesks kelsvskkta adgkrqeiiv
      961 ldskrsnain igltvlpppr tikiailnfd eyalnkegie kiltmiptde ekqkiqeaql
     1021 anpeiplgsa eqflltlssi selsarlhlw afkmdyette kevaeplldl kegidqlenn
     1081 ktlgfilstl laignflngt nakafelsyl ekvpevkdtv hkqsllhhvc tmvvenfpds
     1141 sdlyseigai trsakvdfdq lqdnlcqmer rckaswdhlk aiakhemkpv lkqrmseflk
     1201 dcaeriiilk ivhrriinrf hsfllfmghp pyairevnin kfcriisefa leyrttrerv
     1261 lqqkqkranh rernktrgkm itdsgkfsgs spappsqpqg lsyaedaaeh enmkavlkts
     1321 spsvedatpa lgvrtrsras rgstsswtmg tddspnvtdd aadeimdriv ksatqvpsqr
     1381 vvprerkrsr anrkslrrtl ksgltpeear alglvgtsel ql
//
LOCUS       NP_001363466             826 aa            linear   PRI 28-DEC-2022
DEFINITION  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 5
            [Homo sapiens].
ACCESSION   NP_001363466 XP_016858003
VERSION     NP_001363466.1
DBSOURCE    REFSEQ: accession NM_001376537.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 826)
  AUTHORS   Xie GF, Xu YX, Xu F, Sun LY, Ye ZL, Ma JJ, Wang HY and Shao JY.
  TITLE     Plasma SGIP1 methylation in diagnosis and prognosis prediction in
            hepatocellular carcinoma
  JOURNAL   Neoplasma 68 (1), 62-70 (2021)
   PUBMED   33118832
  REMARK    GeneRIF: Plasma SGIP1 methylation in diagnosis and prognosis
            prediction in hepatocellular carcinoma.
REFERENCE   2  (residues 1 to 826)
  AUTHORS   Zhang Y, Feng Y, Xin Y and Liu X.
  TITLE     SGIP1 dimerizes via intermolecular disulfide bond in muHD domain
            during cellular endocytosis
  JOURNAL   Biochem Biophys Res Commun 505 (1), 99-105 (2018)
   PUBMED   30236986
  REMARK    GeneRIF: Data indicate that cysteine C632 residue is important for
            the function of SH3 domain GRB2 like endophilin interacting protein
            1 (SGIP1) during cellular endocytosis.
REFERENCE   3  (residues 1 to 826)
  AUTHORS   Petko J, Tranchina T, Patel G, Levenson R and Justice-Bitner S.
  TITLE     Identifying novel members of the Wntless interactome through
            genetic and candidate gene approaches
  JOURNAL   Brain Res Bull 138, 96-105 (2018)
   PUBMED   28734904
REFERENCE   4  (residues 1 to 826)
  AUTHORS   Chwedorowicz R, Raszewski G, Kapka-Skrzypczak L, Sawicki K and
            Studzinski T.
  TITLE     Event-related potentials (ERP) and SGIP1 gene polymorphisms in
            alcoholics: relation to family history of alcoholism and drug usage
  JOURNAL   Ann Agric Environ Med 23 (4), 618-624 (2016)
   PUBMED   28030933
  REMARK    GeneRIF: The present study demonstrated a possible association of
            target P300 evoked theta and of alcohol dependence with SNPs from
            the gene SGIP1 in the region of rs10889635, but further studies are
            required.
REFERENCE   5  (residues 1 to 826)
  AUTHORS   Shimada A, Yamaguchi A and Kohda D.
  TITLE     Structural basis for the recognition of two consecutive mutually
            interacting DPF motifs by the SGIP1 mu homology domain
  JOURNAL   Sci Rep 6, 19565 (2016)
   PUBMED   26822536
  REMARK    GeneRIF: crystal structures of the SGIP1 mu homology domains in
            complex with peptides containing two DPF motifs, are reported.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 826)
  AUTHORS   Luke MM, O'Meara ES, Rowland CM, Shiffman D, Bare LA, Arellano AR,
            Longstreth WT Jr, Lumley T, Rice K, Tracy RP, Devlin JJ and Psaty
            BM.
  TITLE     Gene variants associated with ischemic stroke: the cardiovascular
            health study
  JOURNAL   Stroke 40 (2), 363-368 (2009)
   PUBMED   19023099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 826)
  AUTHORS   Shiffman D, O'Meara ES, Bare LA, Rowland CM, Louie JZ, Arellano AR,
            Lumley T, Rice K, Iakoubova O, Luke MM, Young BA, Malloy MJ, Kane
            JP, Ellis SG, Tracy RP, Devlin JJ and Psaty BM.
  TITLE     Association of gene variants with incident myocardial infarction in
            the Cardiovascular Health Study
  JOURNAL   Arterioscler Thromb Vasc Biol 28 (1), 173-179 (2008)
   PUBMED   17975119
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 826)
  AUTHORS   Uezu A, Horiuchi A, Kanda K, Kikuchi N, Umeda K, Tsujita K,
            Suetsugu S, Araki N, Yamamoto H, Takenawa T and Nakanishi H.
  TITLE     SGIP1alpha is an endocytic protein that directly interacts with
            phospholipids and Eps15
  JOURNAL   J Biol Chem 282 (36), 26481-26489 (2007)
   PUBMED   17626015
  REMARK    GeneRIF: SGIP1alpha plays an essential role in clathrin-mediated
            endocytosis by interacting with phospholipids and Eps15.
REFERENCE   9  (residues 1 to 826)
  AUTHORS   Trevaskis J, Walder K, Foletta V, Kerr-Bayles L, McMillan J, Cooper
            A, Lee S, Bolton K, Prior M, Fahey R, Whitecross K, Morton GJ,
            Schwartz MW and Collier GR.
  TITLE     Src homology 3-domain growth factor receptor-bound 2-like
            (endophilin) interacting protein 1, a novel neuronal protein that
            regulates energy balance
  JOURNAL   Endocrinology 146 (9), 3757-3764 (2005)
   PUBMED   15919751
REFERENCE   10 (residues 1 to 826)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356913.15, AL139147.7 and AL354978.20.
            On Nov 16, 2019 this sequence version replaced XP_016858003.1.
            
            Summary: SGIP1 functions as an endocytic protein that affects
            signaling by receptors in neuronal systems involved in energy
            homeostasis via its interaction with endophilins (see SH3GL3; MIM
            603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al.,
            2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMN03465402
                              [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..826
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     Protein         1..826
                     /product="SH3-containing GRB2-like protein 3-interacting
                     protein 1 isoform 5"
                     /note="SH3-containing GRB2-like protein 3-interacting
                     protein 1; SH3 domain GRB2 like endophilin interacting
                     protein 1; endophilin-3-interacting protein"
                     /calculated_mol_wt=88985
     Region          559..825
                     /region_name="SGIP1_MHD"
                     /note="mu-homology domain (MHD) of Scr homology 3
                     (SH3)-domain growth factor receptor-bound 2 (GRB2)-like
                     (endophilin) interacting protein 1 (also known as
                     endophilin-3-interacting protein, SGIP1) and similar
                     proteins; cd09266"
                     /db_xref="CDD:271172"
     CDS             1..826
                     /gene="SGIP1"
                     /coded_by="NM_001376537.1:207..2687"
                     /note="isoform 5 is encoded by transcript variant 8"
                     /db_xref="GeneID:84251"
                     /db_xref="HGNC:HGNC:25412"
                     /db_xref="MIM:611540"
ORIGIN      
        1 mmeglkkrtr kafgirkkek dtdstgspdr dgikksngap ngfyaeidwe rynspeldee
       61 gysirpeepg stkgkhfyss seseeeeesh kkfnikikpl qskdilknaa tvdelkasig
      121 nialspspvr ksprrspgai krnlsseeva rprrstptpe liskkppddt talaplfgpp
      181 lesafdeqkt evlldqpeiw gsgqpinpsm espkltrpfp tgtppplppk nvpatpprtg
      241 spltigpgnd qsatevkiek lpsindldsi fgpvlspksv avnaeekwvh fsdtspehvt
      301 peltprekvv sppatpdnpa dspapgplgp pgptgppgpp gpprnvlspl nleevqkkva
      361 eqtfikddyl etisspkdfg lgqratpppp ppptyrtvvs spgpgsgpgp gttsgasspa
      421 rpatplvpcr sttppppppr ppsrpklppg kpgvgdvsrp fsppihsssp ppiaplarae
      481 stssisstns lsaattptvv seddvfydkl psferrcetp aeneqpslvw fdrgkfyltf
      541 egssrgpspl tmgaqdtlpv aaaftetvna yfkgadpskc ivkitgemvl sfpagitrhf
      601 annpspaalt frvinfsrle hvlpnpqllc cdntqndant kefwvnmpnl mthlkkvseq
      661 kpqatyynvd mlkyqvsaqg iqstplnlav nwrcepsstd lridykyntd amttavalnn
      721 vqflvpidgg vtklqavlpp avwnaeqqri lwkipdisqk senggvgsll arfqlsegps
      781 kpsplvvqft segstlsgcd ielvgagyrf slikkrfaag kyladn
//
LOCUS       NP_001243489             275 aa            linear   PRI 28-DEC-2022
DEFINITION  deoxyribonuclease gamma isoform 2 precursor [Homo sapiens].
ACCESSION   NP_001243489
VERSION     NP_001243489.1
DBSOURCE    REFSEQ: accession NM_001256560.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 275)
  AUTHORS   Sun J, Wang X, Shen Q, Wang M, Chen S, Zhang X, Huang Y, Zhang Z,
            Li W, Yuan Y and Huang Z.
  TITLE     DNASE1L3 inhibits hepatocellular carcinoma by delaying cell cycle
            progression through CDK2
  JOURNAL   Cell Oncol (Dordr) 45 (6), 1187-1202 (2022)
   PUBMED   36327092
  REMARK    GeneRIF: DNASE1L3 inhibits hepatocellular carcinoma by delaying
            cell cycle progression through CDK2.
REFERENCE   2  (residues 1 to 275)
  AUTHORS   Li B, Ge YZ, Yan WW, Gong B, Cao K, Zhao R, Li C, Zhang YW, Jiang
            YH and Zuo S.
  TITLE     DNASE1L3 inhibits proliferation, invasion and metastasis of
            hepatocellular carcinoma by interacting with beta-catenin to
            promote its ubiquitin degradation pathway
  JOURNAL   Cell Prolif 55 (9), e13273 (2022)
   PUBMED   35748106
  REMARK    GeneRIF: DNASE1L3 inhibits proliferation, invasion and metastasis
            of hepatocellular carcinoma by interacting with beta-catenin to
            promote its ubiquitin degradation pathway.
REFERENCE   3  (residues 1 to 275)
  AUTHORS   Tusseau M, Lovsin E, Samaille C, Pescarmona R, Mathieu AL, Maggio
            MC, Selmanovic V, Debeljak M, Dachy A, Novljan G, Janin A, Januel
            L, Gibier JB, Chopin E, Rouvet I, Goncalves D, Fabien N, Rice GI,
            Lesca G, Labalme A, Romagnani P, Walzer T, Viel S, Perret M, Crow
            YJ, Avcin T, Cimaz R and Belot A.
  TITLE     DNASE1L3 deficiency, new phenotypes, and evidence for a transient
            type I IFN signaling
  JOURNAL   J Clin Immunol 42 (6), 1310-1320 (2022)
   PUBMED   35670985
  REMARK    GeneRIF: DNASE1L3 deficiency, new phenotypes, and evidence for a
            transient type I IFN signaling.
REFERENCE   4  (residues 1 to 275)
  AUTHORS   Liu J, Yi J, Zhang Z, Cao D, Li L and Yao Y.
  TITLE     Deoxyribonuclease 1-like 3 may be a potential prognostic biomarker
            associated with immune infiltration in colon cancer
  JOURNAL   Aging (Albany NY) 13 (12), 16513-16526 (2021)
   PUBMED   34157681
  REMARK    GeneRIF: Deoxyribonuclease 1-like 3 may be a potential prognostic
            biomarker associated with immune infiltration in colon cancer.
REFERENCE   5  (residues 1 to 275)
  AUTHORS   Al-Mayouf SM, Sunker A, Abdwani R, Abrawi SA, Almurshedi F,
            Alhashmi N, Al Sonbul A, Sewairi W, Qari A, Abdallah E, Al-Owain M,
            Al Motywee S, Al-Rayes H, Hashem M, Khalak H, Al-Jebali L and
            Alkuraya FS.
  TITLE     Loss-of-function variant in DNASE1L3 causes a familial form of
            systemic lupus erythematosus
  JOURNAL   Nat Genet 43 (12), 1186-1188 (2011)
   PUBMED   22019780
  REMARK    GeneRIF: We identified a rare autosomal recessive form of systemic
            lupus erythematosus, in which autozygome analysis revealed a null
            mutation in the DNASE1L3 gene
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 275)
  AUTHORS   Wilber A, Lu M and Schneider MC.
  TITLE     Deoxyribonuclease I-like III is an inducible macrophage barrier to
            liposomal transfection
  JOURNAL   Mol Ther 6 (1), 35-42 (2002)
   PUBMED   12095301
REFERENCE   7  (residues 1 to 275)
  AUTHORS   Shiokawa D and Tanuma S.
  TITLE     Characterization of human DNase I family endonucleases and
            activation of DNase gamma during apoptosis
  JOURNAL   Biochemistry 40 (1), 143-152 (2001)
   PUBMED   11141064
REFERENCE   8  (residues 1 to 275)
  AUTHORS   Baron WF, Pan CQ, Spencer SA, Ryan AM, Lazarus RA and Baker KP.
  TITLE     Cloning and characterization of an actin-resistant DNase I-like
            endonuclease secreted by macrophages
  JOURNAL   Gene 215 (2), 291-301 (1998)
   PUBMED   9714828
REFERENCE   9  (residues 1 to 275)
  AUTHORS   Rodriguez AM, Rodin D, Nomura H, Morton CC, Weremowicz S and
            Schneider MC.
  TITLE     Identification, localization, and expression of two novel human
            genes similar to deoxyribonuclease I
  JOURNAL   Genomics 42 (3), 507-513 (1997)
   PUBMED   9205125
REFERENCE   10 (residues 1 to 275)
  AUTHORS   Zeng Z, Parmelee D, Hyaw H, Coleman TA, Su K, Zhang J, Gentz R,
            Ruben S, Rosen C and Li Y.
  TITLE     Cloning and characterization of a novel human DNase
  JOURNAL   Biochem Biophys Res Commun 231 (2), 499-504 (1997)
   PUBMED   9070308
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI521582.1, AK301263.1,
            DB164811.1, AI660448.1 and AC137936.3.
            
            Summary: This gene encodes a member of the deoxyribonuclease I
            family. The encoded protein hydrolyzes DNA, is not inhibited by
            actin, and mediates the breakdown of DNA during apoptosis.
            Mutations in this gene are a cause of systemic lupus
            erythematosus-16. Alternatively spliced transcript variants
            encoding multiple isoforms have been observed for this gene.
            [provided by RefSeq, Feb 2012].
            
            Transcript Variant: This variant (2) lacks an exon in the 5' coding
            region, but maintains the reading frame, compared to variant 1. The
            encoded isoform (2) is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK301263.1, SRR5189664.12660.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155751, SAMEA2159764
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..275
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.3"
     Protein         1..275
                     /product="deoxyribonuclease gamma isoform 2 precursor"
                     /EC_number="3.1.21.-"
                     /note="DNase gamma; deoxyribonuclease gamma; DNase I
                     homolog protein 2; Liver and spleen DNase; LS-DNase;
                     deoxyribonuclease I-like III; DNase I-like 3; DNase I
                     homolog protein DHP2; deoxyribonuclease I-like 3"
                     /calculated_mol_wt=29716
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2162
     Region          15..252
                     /region_name="EEP"
                     /note="Exonuclease-Endonuclease-Phosphatase (EEP) domain
                     superfamily; cl00490"
                     /db_xref="CDD:444936"
     mat_peptide     21..275
                     /product="deoxyribonuclease gamma isoform 2"
                     /calculated_mol_wt=29716
     Site            order(27..28,30,34,59,61..63,102,125,128,159,161,166,199,
                     203..204,243..244)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:197337"
     Site            order(27,59,125,159,161,204,243..244)
                     /site_type="active"
                     /note="putative catalytic site [active]"
                     /db_xref="CDD:197337"
     Site            order(27,59,243)
                     /site_type="other"
                     /note="putative Mg binding site IVb [ion binding]"
                     /db_xref="CDD:197337"
     Site            order(29,125,159,161,244)
                     /site_type="other"
                     /note="putative phosphate binding site [ion binding]"
                     /db_xref="CDD:197337"
     Site            29
                     /site_type="other"
                     /note="actin binding site [polypeptide binding]"
                     /db_xref="CDD:197337"
     Site            order(30,34,61..63,102,125,128,159,161,166,203,244)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:197337"
     Site            order(91,103)
                     /site_type="other"
                     /note="Ca binding site II [ion binding]"
                     /db_xref="CDD:197337"
     Site            order(159,204,244)
                     /site_type="other"
                     /note="putative Mg binding site IVa [ion binding]"
                     /db_xref="CDD:197337"
     Site            order(163,189)
                     /site_type="metal-binding"
                     /note="metal binding site III [ion binding]"
                     /db_xref="CDD:197337"
     Site            order(192,194)
                     /site_type="other"
                     /note="Ca binding site I [ion binding]"
                     /db_xref="CDD:197337"
     CDS             1..275
                     /gene="DNASE1L3"
                     /gene_synonym="DHP2; DNAS1L3; LSD; SLEB16"
                     /coded_by="NM_001256560.2:67..894"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS58836.1"
                     /db_xref="GeneID:1776"
                     /db_xref="HGNC:HGNC:2959"
                     /db_xref="MIM:602244"
ORIGIN      
        1 msrelaplll lllsihsala mricsfnvrs fgeskqedkn amdvivkvik rcdiilvmei
       61 kdsnnricpi lmeklnrekl vsvkrsyhyh dyqdgdadvf srepfvvwfq sphtavkdfv
      121 iiplhttpet svkeidelve vytdvkhrwk aenfifmgdf nagcsyvpkk awknirlrtd
      181 prfvwligdq edttvkkstn caydrivlrg qeivssvvpk snsvfdfqka yklteeeald
      241 vsdhfpvefk lqssraftns kksvtlrkkt kskrs
//
LOCUS       NP_001245345            1165 aa            linear   PRI 28-DEC-2022
DEFINITION  rho GTPase-activating protein 20 isoform 3 [Homo sapiens].
ACCESSION   NP_001245345
VERSION     NP_001245345.1
DBSOURCE    REFSEQ: accession NM_001258416.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1165)
  AUTHORS   Foster MC, Yang Q, Hwang SJ, Hoffmann U and Fox CS.
  TITLE     Heritability and genome-wide association analysis of renal sinus
            fat accumulation in the Framingham Heart Study
  JOURNAL   BMC Med Genet 12, 148 (2011)
   PUBMED   22044751
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1165)
  AUTHORS   Herold T, Jurinovic V, Mulaw M, Seiler T, Dufour A, Schneider S,
            Kakadia PM, Feuring-Buske M, Braess J, Spiekermann K, Mansmann U,
            Hiddemann W, Buske C and Bohlander SK.
  TITLE     Expression analysis of genes located in the minimally deleted
            regions of 13q14 and 11q22-23 in chronic lymphocytic
            leukemia-unexpected expression pattern of the RHO GTPase activator
            ARHGAP20
  JOURNAL   Genes Chromosomes Cancer 50 (7), 546-558 (2011)
   PUBMED   21500311
  REMARK    GeneRIF: The similar expression profiles of ARHGAP20 in 13q14 and
            11q22-23 deleted CLL cases suggest a molecular connection and an
            intriguing mechanism of regulation
REFERENCE   3  (residues 1 to 1165)
  AUTHORS   Yamada T, Sakisaka T, Hisata S, Baba T and Takai Y.
  TITLE     RA-RhoGAP, Rap-activated Rho GTPase-activating protein implicated
            in neurite outgrowth through Rho
  JOURNAL   J Biol Chem 280 (38), 33026-33034 (2005)
   PUBMED   16014623
  REMARK    GeneRIF: RA-RhoGAP transduces a signal from Rap1 to Rho and
            regulates the neurite outgrowth
REFERENCE   4  (residues 1 to 1165)
  AUTHORS   Kalla C, Nentwich H, Schlotter M, Mertens D, Wildenberger K, Dohner
            H, Stilgenbauer S and Lichter P.
  TITLE     Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic
            leukemia disrupts two novel genes
  JOURNAL   Genes Chromosomes Cancer 42 (2), 128-143 (2005)
   PUBMED   15543602
REFERENCE   5  (residues 1 to 1165)
  AUTHORS   Curry BJ, Su H, Law EG, McLaughlin EA, Nixon B and Aitken RJ.
  TITLE     Identification of RARhoGAP, a novel putative RhoGAP gene expressed
            in male germ cells
  JOURNAL   Genomics 84 (2), 406-418 (2004)
   PUBMED   15234003
REFERENCE   6  (residues 1 to 1165)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of human KIAA1391 and mouse
            Kiaa1391 genes encoding novel RhoGAP family proteins with RA domain
            and ANXL repeats
  JOURNAL   Int J Oncol 23 (5), 1471-1476 (2003)
   PUBMED   14532992
  REMARK    GeneRIF: human KIAA1391 gene and mouse Kiaa1391 gene encode RhoGAP
            proteins with RA domain and two ANXL repeats
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003460.3, AP001980.6 and
            AP001883.6.
            
            Summary: The protein encoded by this gene is an activator of
            RHO-type GTPases, transducing a signal from RAP1 to RHO and
            impacting neurite outgrowth. [provided by RefSeq, Sep 2016].
            
            Sequence Note:.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY496267.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1165
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3-q23.1"
     Protein         1..1165
                     /product="rho GTPase-activating protein 20 isoform 3"
                     /note="RA and RhoGAP domain containing protein; rho-type
                     GTPase-activating protein 20"
                     /calculated_mol_wt=130105
     Region          58..154
                     /region_name="PH_RARhoGAP"
                     /note="RA and RhoGAP domain-containing protein Pleckstrin
                     homology PH domain; cd13319"
                     /db_xref="CDD:270129"
     Region          168..286
                     /region_name="RA_RHG20"
                     /note="Ras-associating (RA) domain found in Rho
                     GTPase-activating protein 20 (RHG20) and similar proteins;
                     cd17115"
                     /db_xref="CDD:340635"
     Region          336..529
                     /region_name="RhoGAP_ARHGAP20"
                     /note="RhoGAP (GTPase-activator protein [GAP] for Rho-like
                     small GTPases) domain of ArhGAP20-like proteins. ArhGAP20,
                     also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a
                     RA, and a PH domain, and ANXL repeats. ArhGAP20 is
                     activated by Rap1 and induces...; cd04402"
                     /db_xref="CDD:239867"
     Site            order(373,409,413,482,485..486,511)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239867"
     Site            373
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239867"
     CDS             1..1165
                     /gene="ARHGAP20"
                     /gene_synonym="RARHOGAP"
                     /coded_by="NM_001258416.2:253..3750"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS58176.1"
                     /db_xref="GeneID:57569"
                     /db_xref="HGNC:HGNC:18357"
                     /db_xref="MIM:609568"
ORIGIN      
        1 mtfwiiinkk mktlaerrrs apslildkal qkrpttrdsp sasvdtctfl sslvcsnrtl
       61 lidgraelkr glqrqerhlf lfndlfvvak ikynnnfkik nkikltdmwt ascvdevgeg
      121 ntnamksfvl gwptvnfvat fsspeqkdkw lsllqryinl ekekdypksi plkifakdig
      181 ncaysktitv mnsdtanevi nmslpmlgit gserdyqlwv nsgkeeapyp ligheypygi
      241 kmshlrdsal ltpgskdstt pfnlqepflm eqlpremqcq filkpsrlaa aqqlsdsghk
      301 tfkrrrsiin wafwrgssth ldnlpsspts pmpgqlfgis lpnicendnl pkpvldmlff
      361 lnqkgpltkg ifrqsanvks crelkeklns gvevhldces ifviasvlkd flrnipgsif
      421 ssdlydhwvs vmdqgndeek intvqrlldq lpranvvllr ylfgvlhnie qhsssnqmta
      481 fnlavcvaps ilwppasssp eleneftkkv slliqflien clrifgeeit slfrevsvrc
      541 dtrenasdis cfqlndssyd slenelnedv dapcsdlvkk lgqgsrsmds vltlsdydld
      601 qpeveglltl sdfdlahskd edvqmkrple skpvnilvyt kiplrdhara psamctpsyl
      661 staaanaaks lrrhrrcsep sidyldskls ylrefyqkkl rksscdails qkdedylkqn
      721 qplqeegktc fkqslvtgtd vskknattqn tkkkslsgse gnhvklfpks kpvaisvasy
      781 spmssqdhsk nqpfdvntsg yspphtadal kgprthrrcs epniedqnrk ltylrgiysk
      841 kqhktsceag llhgeedylk rhkslqmegq klinqslvmg ievgkssatn qntekvlppr
      901 lnlcprtsys slsspgtsps gssvssqdsa fsqisehsvf tptetsspid ctfqaqrkre
      961 dlspdfsnas hvsgmpgpss gqacsrpayt kkdtmewhsq mhsvtlhpst wlrngvaslk
     1021 nwslkkkaka arpeeekias pkgpleppph asgvpeansl qeeqkdlplr aaeglspvqs
     1081 aqrcssspfq dserhcsspf slvesrlklc mksheeiepg sqsssgslpw erasasswtl
     1141 edatspdsgp tvvcdiedry ltkdi
//
LOCUS       NP_001364278             665 aa            linear   PRI 30-DEC-2022
DEFINITION  leucine-rich repeats and immunoglobulin-like domains protein 1
            isoform 6 [Homo sapiens].
ACCESSION   NP_001364278
VERSION     NP_001364278.1
DBSOURCE    REFSEQ: accession NM_001377349.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 665)
  AUTHORS   Umeh-Garcia M, O'Geen H, Simion C, Gephart MH, Segal DJ and Sweeney
            CA.
  TITLE     Aberrant promoter methylation contributes to LRIG1 silencing in
            basal/triple-negative breast cancer
  JOURNAL   Br J Cancer 127 (3), 436-448 (2022)
   PUBMED   35440669
  REMARK    GeneRIF: Aberrant promoter methylation contributes to LRIG1
            silencing in basal/triple-negative breast cancer.
REFERENCE   2  (residues 1 to 665)
  AUTHORS   Sundqvist B, Sihto H, von Willebrand M, Bohling T and Koljonen V.
  TITLE     LRIG1 is a positive prognostic marker in Merkel cell carcinoma and
            Merkel cell carcinoma expresses epithelial stem cell markers
  JOURNAL   Virchows Arch 479 (6), 1197-1207 (2021)
   PUBMED   34331569
  REMARK    GeneRIF: LRIG1 is a positive prognostic marker in Merkel cell
            carcinoma and Merkel cell carcinoma expresses epithelial stem cell
            markers.
REFERENCE   3  (residues 1 to 665)
  AUTHORS   Hsu HL, Chen HK, Tsai CH, Liao PL, Chan YJ, Lee YC, Lee CC and Li
            CH.
  TITLE     Aryl Hydrocarbon Receptor Defect Attenuates Mitogen-Activated
            Signaling through Leucine-Rich Repeats and Immunoglobulin-like
            Domains 1 (LRIG1)-Dependent EGFR Degradation
  JOURNAL   Int J Mol Sci 22 (18), 9988 (2021)
   PUBMED   34576152
  REMARK    GeneRIF: Aryl Hydrocarbon Receptor Defect Attenuates
            Mitogen-Activated Signaling through Leucine-Rich Repeats and
            Immunoglobulin-like Domains 1 (LRIG1)-Dependent EGFR Degradation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 665)
  AUTHORS   Billing O, Holmgren Y, Nosek D, Hedman H and Hemmingsson O.
  TITLE     LRIG1 is a conserved EGFR regulator involved in melanoma
            development, survival and treatment resistance
  JOURNAL   Oncogene 40 (21), 3707-3718 (2021)
   PUBMED   33947959
  REMARK    GeneRIF: LRIG1 is a conserved EGFR regulator involved in melanoma
            development, survival and treatment resistance.
REFERENCE   5  (residues 1 to 665)
  AUTHORS   Kang S, Gim J, Lee J, Gunasekaran TI, Choi KY, Lee JJ, Seo EH, Ko
            PW, Chung JY, Choi SM, Lee YM, Jeong JH, Park KW, Song MK, Lee HW,
            Kim KW, Choi SH, Lee DY, Kim SY, Kim H, Kim BC, Ikeuchi T and Lee
            KH.
  TITLE     Potential Novel Genes for Late-Onset Alzheimer's Disease in
            East-Asian Descent Identified by APOE-Stratified Genome-Wide
            Association Study
  JOURNAL   J Alzheimers Dis 82 (4), 1451-1460 (2021)
   PUBMED   34151794
  REMARK    GeneRIF: Potential Novel Genes for Late-Onset Alzheimer's Disease
            in East-Asian Descent Identified by APOE-Stratified Genome-Wide
            Association Study.
REFERENCE   6  (residues 1 to 665)
  AUTHORS   Nilsson J, Starefeldt A, Henriksson R and Hedman H.
  TITLE     LRIG1 protein in human cells and tissues
  JOURNAL   Cell Tissue Res 312 (1), 65-71 (2003)
   PUBMED   12684867
  REMARK    GeneRIF: Results demonstrate that LRIG1 is an integral cell-surface
            membrane protein that is expressed by specific cells in various
            human tissues and that its 143-kDa form might be cleaved into
            111-kDa and 32-kDa fragments.
REFERENCE   7  (residues 1 to 665)
  AUTHORS   Suzuki Y, Miura H, Tanemura A, Kobayashi K, Kondoh G, Sano S, Ozawa
            K, Inui S, Nakata A, Takagi T, Tohyama M, Yoshikawa K and Itami S.
  TITLE     Targeted disruption of LIG-1 gene results in psoriasiform epidermal
            hyperplasia
  JOURNAL   FEBS Lett 521 (1-3), 67-71 (2002)
   PUBMED   12067728
REFERENCE   8  (residues 1 to 665)
  AUTHORS   Hedman H, Nilsson J, Guo D and Henriksson R.
  TITLE     Is LRIG1 a tumour suppressor gene at chromosome 3p14.3?
  JOURNAL   Acta Oncol 41 (4), 352-354 (2002)
   PUBMED   12234026
  REMARK    GeneRIF: Down-regulation of LIG-1 is associated with cancer
REFERENCE   9  (residues 1 to 665)
  AUTHORS   Nilsson J, Vallbo C, Guo D, Golovleva I, Hallberg B, Henriksson R
            and Hedman H.
  TITLE     Cloning, characterization, and expression of human LIG1
  JOURNAL   Biochem Biophys Res Commun 284 (5), 1155-1161 (2001)
   PUBMED   11414704
REFERENCE   10 (residues 1 to 665)
  AUTHORS   Suzuki Y, Sato N, Tohyama M, Wanaka A and Takagi T.
  TITLE     cDNA cloning of a novel membrane glycoprotein that is expressed
            specifically in glial cells in the mouse brain. LIG-1, a protein
            with leucine-rich repeats and immunoglobulin-like domains
  JOURNAL   J Biol Chem 271 (37), 22522-22527 (1996)
   PUBMED   8798419
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC099665.2, AC126122.2 and AC092034.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.280172.1,
                                           SRR1803614.270619.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..665
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.1"
     Protein         1..665
                     /product="leucine-rich repeats and immunoglobulin-like
                     domains protein 1 isoform 6"
                     /note="ortholog of mouse integral membrane glycoprotein
                     LIG-1; leucine-rich repeats and immunoglobulin-like
                     domains protein 1; leucine-rich repeat protein LRIG1"
                     /calculated_mol_wt=72263
     Region          14..62
                     /region_name="LRRCT"
                     /note="Leucine rich repeat C-terminal domain; smart00082"
                     /db_xref="CDD:214507"
     Region          66..153
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          84..88
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          99..103
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          125..130
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          146..151
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          160..163
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          172..262
                     /region_name="IgI_LRIG1-like"
                     /note="Immunoglobulin (Ig)-like ectodomain of the LRIG1
                     (Leucine-rich Repeats And Immunoglobulin-like Domains
                     Protein 1) and similar proteins; member of the I-set of
                     IgSF domains; cd05763"
                     /db_xref="CDD:409420"
     Region          172..175
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409420"
     Region          179..183
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409420"
     Region          186..195
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409420"
     Region          201..206
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409420"
     Region          209..211
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409420"
     Region          219..223
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409420"
     Region          227..234
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409420"
     Region          240..248
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409420"
     Region          251..262
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409420"
     Region          265..352
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          282..286
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          295..299
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          318..322
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          332..337
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          345..348
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..665
                     /gene="LRIG1"
                     /gene_synonym="LIG-1; LIG1"
                     /coded_by="NM_001377349.1:314..2311"
                     /note="isoform 6 is encoded by transcript variant 7"
                     /db_xref="GeneID:26018"
                     /db_xref="HGNC:HGNC:17360"
                     /db_xref="MIM:608868"
ORIGIN      
        1 mknlkelhis sdsflcdcql kwlppwligr mlqafvtatc ahpeslkgqs ifsvppesfv
       61 cddflkpqii tqpettmamv gkdirftcsa assssspmtf awkkdnevlt nadmenfvhv
      121 haqdgevmey ttilhlrqvt fghegryqcv itnhfgstys hkarltvnvl psftktphdi
      181 tirtttmarl ecaatghpnp qiawqkdggt dfpaarerrm hvmpdddvff itdvkiddag
      241 vysctaqnsa gsisanatlt vletpslvvp ledrvvsvge tvalqckatg npppritwfk
      301 gdrplslter hhltpdnqll vvqnvvaeda grytcemsnt lgterahsql svlpaagcrk
      361 dgttvgifti avvssivlts lvwvciiyqt rkkseeysvt ntdetvvppd vpsylssqgt
      421 lsdrqetvvr teggpqangh iesngvcprd ashfpepdth svacrqpklc agsayhkepw
      481 kamekaegtp gphkmehggr vvcsdcntev dcysrgqafh pqpvsrdsaq psapngpepg
      541 gsdqehsphh qcsrtaagsc pecqgslyps nhdrmltavk kkpmasldgk gdsswtlarl
      601 yhpdstelqp assltsgspe raeaqyllvs nghlpkacda spestpltgq lpgkqrvpll
      661 lapks
//
LOCUS       NP_001070711             884 aa            linear   PRI 30-DEC-2022
DEFINITION  glutamate receptor 4 isoform 2 precursor [Homo sapiens].
ACCESSION   NP_001070711
VERSION     NP_001070711.3
DBSOURCE    REFSEQ: accession NM_001077243.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 884)
  AUTHORS   Vega-Benedetti AF, Loi E, Moi L, Restivo A, Cabras F, Deidda S,
            Pretta A, Ziranu P, Orru S, Scartozzi M, Zorcolo L and Zavattari P.
  TITLE     Colorectal cancer promoter methylation alteration affects the
            expression of glutamate ionotropic receptor AMPA type subunit 4
            alternative isoforms potentially relevant in colon tissue
  JOURNAL   Hum Cell 35 (1), 310-319 (2022)
   PUBMED   34719006
  REMARK    GeneRIF: Colorectal cancer promoter methylation alteration affects
            the expression of glutamate ionotropic receptor AMPA type subunit 4
            alternative isoforms potentially relevant in colon tissue.
REFERENCE   2  (residues 1 to 884)
  AUTHORS   Herbrechter R, Hube N, Buchholz R and Reiner A.
  TITLE     Splicing and editing of ionotropic glutamate receptors: a
            comprehensive analysis based on human RNA-Seq data
  JOURNAL   Cell Mol Life Sci 78 (14), 5605-5630 (2021)
   PUBMED   34100982
REFERENCE   3  (residues 1 to 884)
  AUTHORS   Yue J, Zhu T, Yang J, Si Y, Xu X, Fang Y and Fu W.
  TITLE     CircCBFB-mediated miR-28-5p facilitates abdominal aortic aneurysm
            via LYPD3 and GRIA4
  JOURNAL   Life Sci 253, 117533 (2020)
   PUBMED   32151690
REFERENCE   4  (residues 1 to 884)
  AUTHORS   Zhou H, Cheng Z, Bass N, Krystal JH, Farrer LA, Kranzler HR and
            Gelernter J.
  TITLE     Genome-wide association study identifies glutamate ionotropic
            receptor GRIA4 as a risk gene for comorbid nicotine dependence and
            major depression
  JOURNAL   Transl Psychiatry 8 (1), 208 (2018)
   PUBMED   30287806
  REMARK    GeneRIF: Study identifies glutamate ionotropic receptor GRIA4 as a
            risk gene for comorbid nicotine dependence and major depression.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 884)
  AUTHORS   Aruscavage PJ and Bass BL.
  TITLE     A phylogenetic analysis reveals an unusual sequence conservation
            within introns involved in RNA editing
  JOURNAL   RNA 6 (2), 257-269 (2000)
   PUBMED   10688364
REFERENCE   6  (residues 1 to 884)
  AUTHORS   Fletcher EJ, Nutt SL, Hoo KH, Elliott CE, Korczak B, McWhinnie EA
            and Kamboj RK.
  TITLE     Cloning, expression and pharmacological characterization of a human
            glutamate receptor: hGluR4
  JOURNAL   Recept Channels 3 (1), 21-31 (1995)
   PUBMED   8589990
REFERENCE   7  (residues 1 to 884)
  AUTHORS   Lomeli H, Mosbacher J, Melcher T, Hoger T, Geiger JR, Kuner T,
            Monyer H, Higuchi M, Bach A and Seeburg PH.
  TITLE     Control of kinetic properties of AMPA receptor channels by nuclear
            RNA editing
  JOURNAL   Science 266 (5191), 1709-1713 (1994)
   PUBMED   7992055
REFERENCE   8  (residues 1 to 884)
  AUTHORS   Hardy M, Younkin D, Tang CM, Pleasure J, Shi QY, Williams M and
            Pleasure D.
  TITLE     Expression of non-NMDA glutamate receptor channel genes by clonal
            human neurons
  JOURNAL   J Neurochem 63 (2), 482-489 (1994)
   PUBMED   7518497
REFERENCE   9  (residues 1 to 884)
  AUTHORS   Roche KW, Raymond LA, Blackstone C and Huganir RL.
  TITLE     Transmembrane topology of the glutamate receptor subunit GluR6
  JOURNAL   J Biol Chem 269 (16), 11679-11682 (1994)
   PUBMED   8163463
REFERENCE   10 (residues 1 to 884)
  AUTHORS   McNamara JO, Eubanks JH, McPherson JD, Wasmuth JJ, Evans GA and
            Heinemann SF.
  TITLE     Chromosomal localization of human glutamate receptor genes
  JOURNAL   J Neurosci 12 (7), 2555-2562 (1992)
   PUBMED   1319477
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001561.4, AP000641.4,
            AP000673.4 and AP000813.4.
            On Aug 14, 2020 this sequence version replaced NP_001070711.2.
            
            Summary: Glutamate receptors are the predominant excitatory
            neurotransmitter receptors in the mammalian brain and are activated
            in a variety of normal neurophysiologic processes. These receptors
            are heteromeric protein complexes composed of multiple subunits,
            arranged to form ligand-gated ion channels. The classification of
            glutamate receptors is based on their activation by different
            pharmacologic agonists. The subunit encoded by this gene belongs to
            a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole
            propionate)-sensitive glutamate receptors, and is subject to RNA
            editing (AGA->GGA; R->G). Alternative splicing of this gene results
            in transcript variants encoding different isoforms, which may vary
            in their signal transduction properties. Some haplotypes of this
            gene show a positive association with schizophrenia. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) contains an alternate in-frame
            coding exon, and uses a downstream donor splice site at the
            penultimate exon, compared to transcript variant 1. This results in
            a shorter isoform (2) with a different C-terminus compared to
            isoform 1. RNA editing (AGA->GGA) changes Arg765Gly.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.685.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2146411
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            undergoes RNA editing :: PMID: 10688364, 7992055
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..884
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3"
     Protein         1..884
                     /product="glutamate receptor 4 isoform 2 precursor"
                     /note="glutamate receptor 4; AMPA-selective glutamate
                     receptor 4; gluR-4; gluR-D; glutamate receptor,
                     ionotrophic, AMPA 4; glutamate receptor, ionotropic, AMPA
                     4"
                     /calculated_mol_wt=96872
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2396
     mat_peptide     21..884
                     /product="glutamate receptor 4 isoform 2"
                     /calculated_mol_wt=96929
     Region          28..400
                     /region_name="PBP1_iGluR_AMPA_GluR4"
                     /note="N-terminal leucine-isoleucine-valine binding
                     protein (LIVBP)-like domain of the GluR4 subunit of the
                     AMPA receptor; cd06388"
                     /db_xref="CDD:380611"
     Site            52
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P48058.2)"
     Site            56
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P48058.2)"
     Site            order(75..77,80..81,84,109,112,158,168,171..172,175..176,
                     183,185,200,330..332,334,336)
                     /site_type="other"
                     /note="putative tetramer interface [polypeptide binding]"
                     /db_xref="CDD:380611"
     Site            order(76..77,84,109,113,158,164,168,171..172,174..176,
                     181..182,184,204,331..335)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:380611"
     Site            258
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P48058.2)"
     Site            371
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P48058.2)"
     Site            407
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P48058.2)"
     Region          414..795
                     /region_name="PBP2_iGluR_AMPA_GluR4"
                     /note="The ligand-binding domain of the AMPA
                     (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic
                     acid) subtype GluR4 of ionotropic glutamate receptors, a
                     member of the type 2 periplasmic binding fold protein
                     superfamily; cd13727"
                     /db_xref="CDD:270445"
     Site            414
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P48058.2)"
     Site            order(472,500..502,507,672,675..677,726..727,730,754)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:270445"
     Site            order(503..505,508,513..516,751,765,769..770,773,776..777)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:270445"
     Site            order(515..519,773,776,781..782,785)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:270445"
     Site            545..565
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P48058.2)"
     Site            618..638
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P48058.2)"
     Site            814..834
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P48058.2)"
     CDS             1..884
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /coded_by="NM_001077243.3:447..3101"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS41706.1"
                     /db_xref="GeneID:2893"
                     /db_xref="HGNC:HGNC:4574"
                     /db_xref="MIM:138246"
ORIGIN      
        1 mriisrqivl lfsgfwglam gafpssvqig glfirntdqe ytafrlaifl hntspnasea
       61 pfnlvphvdn ietansfavt nafcsqysrg vfaifglydk rsvhtltsfc salhislitp
      121 sfptegesqf vlqlrpslrg allslldhye wncfvflydt drgysilqai mekagqngwh
      181 vsaicvenfn dvsyrqllee ldrrqekkfv idceierlqn ileqivsvgk hvkgyhyiia
      241 nlgfkdisle rfihgganvt gfqlvdfntp mviklmdrwk kldqreypgs etppkytsal
      301 tydgvlvmae tfrslrrqki disrrgnagd clanpaapwg qgidmertlk qvriqgltgn
      361 vqfdhygrrv nytmdvfelk stgprkvgyw ndmdklvliq dvptlgndta aienrtvvvt
      421 timespyvmy kknhemfegn dkyegycvdl aseiakhigi kykiaivpdg kygardadtk
      481 iwngmvgelv ygkaeiaiap ltitlvreev idfskpfmsl gisimikkpq kskpgvfsfl
      541 dplayeiwmc ivfayigvsv vlflvsrfsp yewhteeped gkegpsdqpp nefgifnslw
      601 fslgafmqqg cdisprslsg rivggvwwff tliiissyta nlaafltver mvspiesaed
      661 lakqteiayg tldsgstkef frrskiavye kmwtymrsae psvftrttae gvarvrkskg
      721 kfafllestm neyieqrkpc dtmkvggnld skgygvatpk gsslrnavnl avlklneqgl
      781 ldklknkwwy dkgecgsggg dskdktsals lsnvagvfyi lvgglglaml valiefcyks
      841 raeakrmkva ksaqtfnpts sqntqnlaty regynvygte siki
//
LOCUS       NP_001107866             484 aa            linear   PRI 31-DEC-2022
DEFINITION  poly(A) RNA polymerase GLD2 isoform 1 [Homo sapiens].
ACCESSION   NP_001107866
VERSION     NP_001107866.1
DBSOURCE    REFSEQ: accession NM_001114394.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 484)
  AUTHORS   Yang A, Bofill-De Ros X, Stanton R, Shao TJ, Villanueva P and Gu S.
  TITLE     TENT2, TUT4, and TUT7 selectively regulate miRNA sequence and
            abundance
  JOURNAL   Nat Commun 13 (1), 5260 (2022)
   PUBMED   36071058
  REMARK    GeneRIF: TENT2, TUT4, and TUT7 selectively regulate miRNA sequence
            and abundance.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 484)
  AUTHORS   Inagaki H, Hosoda N and Hoshino SI.
  TITLE     DDX6 is a positive regulator of Ataxin-2/PAPD4 cytoplasmic
            polyadenylation machinery
  JOURNAL   Biochem Biophys Res Commun 553, 9-16 (2021)
   PUBMED   33756349
  REMARK    GeneRIF: DDX6 is a positive regulator of Ataxin-2/PAPD4 cytoplasmic
            polyadenylation machinery.
REFERENCE   3  (residues 1 to 484)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 484)
  AUTHORS   Hojo H, Yashiro Y, Noda Y, Ogami K, Yamagishi R, Okada S, Hoshino
            SI and Suzuki T.
  TITLE     The RNA-binding protein QKI-7 recruits the poly(A) polymerase GLD-2
            for 3' adenylation and selective stabilization of microRNA-122
  JOURNAL   J Biol Chem 295 (2), 390-402 (2020)
   PUBMED   31792053
  REMARK    GeneRIF: The RNA-binding protein QKI-7 recruits the poly(A)
            polymerase GLD-2 for 3' adenylation and selective stabilization of
            microRNA-122.
REFERENCE   5  (residues 1 to 484)
  AUTHORS   Chung CZ, Balasuriya N, Manni E, Liu X, Li SS, O'Donoghue P and
            Heinemann IU.
  TITLE     Gld2 activity is regulated by phosphorylation in the N-terminal
            domain
  JOURNAL   RNA Biol 16 (8), 1022-1033 (2019)
   PUBMED   31057087
  REMARK    GeneRIF: The data demonstrate a novel phosphorylation-dependent
            mechanism to regulate Gld2 activity, revealing tumour suppressor
            miRNAs(miR-122) as a previously unknown target of Akt1-dependent
            signalling
REFERENCE   6  (residues 1 to 484)
  AUTHORS   Wyman SK, Knouf EC, Parkin RK, Fritz BR, Lin DW, Dennis LM, Krouse
            MA, Webster PJ and Tewari M.
  TITLE     Post-transcriptional generation of miRNA variants by multiple
            nucleotidyl transferases contributes to miRNA transcriptome
            complexity
  JOURNAL   Genome Res 21 (9), 1450-1461 (2011)
   PUBMED   21813625
REFERENCE   7  (residues 1 to 484)
  AUTHORS   Qi L, Menzaghi C, Salvemini L, De Bonis C, Trischitta V and Hu FB.
  TITLE     Novel locus FER is associated with serum HMW adiponectin levels
  JOURNAL   Diabetes 60 (8), 2197-2201 (2011)
   PUBMED   21700879
REFERENCE   8  (residues 1 to 484)
  AUTHORS   Glahder JA, Kristiansen K, Durand M, Vinther J and Norrild B.
  TITLE     The early noncoding region of human papillomavirus type 16 is
            regulated by cytoplasmic polyadenylation factors
  JOURNAL   Virus Res 149 (2), 217-223 (2010)
   PUBMED   20144904
  REMARK    GeneRIF: The authors show that the human CPEB1 can repress the
            activity of the reporter construct containing the HPV-16 early
            sequences. This repression can be counteracted by a human
            cytoplasmic poly(A) polymerase, hGLD-2 fused to CPEB1.
REFERENCE   9  (residues 1 to 484)
  AUTHORS   Mullen TE and Marzluff WF.
  TITLE     Degradation of histone mRNA requires oligouridylation followed by
            decapping and simultaneous degradation of the mRNA both 5' to 3'
            and 3' to 5'
  JOURNAL   Genes Dev 22 (1), 50-65 (2008)
   PUBMED   18172165
REFERENCE   10 (residues 1 to 484)
  AUTHORS   Kwak JE, Wang L, Ballantyne S, Kimble J and Wickens M.
  TITLE     Mammalian GLD-2 homologs are poly(A) polymerases
  JOURNAL   Proc Natl Acad Sci U S A 101 (13), 4407-4412 (2004)
   PUBMED   15070731
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA803910.1, AL833136.1, AK095818.1, BC047581.1, AC008482.5,
            AW302247.1 and DB302918.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.2771499.1,
                                           SRR14372079.1162415.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000453514.6/ ENSP00000397563.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..484
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     Protein         1..484
                     /product="poly(A) RNA polymerase GLD2 isoform 1"
                     /EC_number="2.7.7.19"
                     /note="poly(A) RNA polymerase GLD2; TUTase 2; terminal
                     uridylyltransferase 2; PAP-associated domain-containing
                     protein 4; PAP associated domain containing 4; poly(A) RNA
                     polymerase D4, non-canonical"
                     /calculated_mol_wt=55897
     Site            62
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q6PIY7.1)"
     Site            69
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q6PIY7.1)"
     Region          72..97
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PIY7.1)"
     Region          76..92
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PIY7.1)"
     Site            95
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6PIY7.1)"
     Region          154..>468
                     /region_name="TRF4"
                     /note="DNA polymerase sigma [Replication, recombination
                     and repair]; COG5260"
                     /db_xref="CDD:227585"
     CDS             1..484
                     /gene="TENT2"
                     /gene_synonym="APD4; GLD2; PAPD4; TUT2"
                     /coded_by="NM_001114394.3:673..2127"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS4048.1"
                     /db_xref="GeneID:167153"
                     /db_xref="HGNC:HGNC:26776"
                     /db_xref="MIM:614121"
ORIGIN      
        1 mfpnsilgrp pftpnhqqhn nfftlsptvy shqqlidaqf nfqnadlsra vslqqltygn
       61 vspiqtsasp lfrgrkrlsd eknlpldgkr qrfhsphqep tvvnqivpls gerrysmppl
      121 fhthyvpdiv rcvppfreia flepreitlp eakdklsqqi lelfetcqqq isdlkkkelc
      181 rtqlqreiql lfpqsrlflv gsslngfgtr ssdgdlclvv keepcffqvn qktearhilt
      241 lvhkhfctrl sgyierpqli rakvpivkfr dkvscvefdl nvnnivgirn tfllrtyayl
      301 enrvrplvlv ikkwashhqi ndasrgtlss yslvlmvlhy lqtlpepilp slqkiypesf
      361 spaiqlhlvh qapcnvppyl sknesnlgdl llgflkyyat efdwnsqmis vreakaiprp
      421 dgiewrnkyi cveepfdgtn taravhekqk fdmikdqflk swhrlknkrd lnsilpvraa
      481 vlkr
//
LOCUS       NP_001339230             494 aa            linear   PRI 31-DEC-2022
DEFINITION  thioredoxin reductase 2, mitochondrial isoform 3 [Homo sapiens].
ACCESSION   NP_001339230
VERSION     NP_001339230.1
DBSOURCE    REFSEQ: accession NM_001352301.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 494)
  AUTHORS   Kondkar AA, Sultan T, Alobaidan AS, Azad TA, Osman EA, Almobarak
            FA, Lobo GP and Al-Obeidan SA.
  TITLE     Association analysis of variants rs35934224 in TXNRD2 and rs6478746
            in LMX1B in primary angle-closure and pseudoexfoliation glaucoma
  JOURNAL   Eur J Ophthalmol 32 (4), 2249-2258 (2022)
   PUBMED   34461764
  REMARK    GeneRIF: Association analysis of variants rs35934224 in TXNRD2 and
            rs6478746 in LMX1B in primary angle-closure and pseudoexfoliation
            glaucoma.
REFERENCE   2  (residues 1 to 494)
  AUTHORS   Sookaromdee P and Wiwanitkit V.
  TITLE     TXNRD2 (rs35934224) CT genotype and primary open-angle glaucoma:
            correspondenceReply to 'TXNRD2 (rs35934224) CT genotype and primary
            open-angle glaucoma: correspondence'Primary open-angle
            glaucomaGenome-wide association analysis identifies TXNRD2, ATXN2
            and FOXC1 as susceptibility loci for primary open-angle
            glaucomaGenome-wide association study of primary open-angle
            glaucoma in continental and admixed African populations
  JOURNAL   Arq Bras Oftalmol 85 (2), 214-215 (2022)
   PUBMED   35416905
  REMARK    GeneRIF: TXNRD2 (rs35934224) CT genotype and primary open-angle
            glaucoma: correspondenceReply to ''TXNRD2 (rs35934224) CT genotype
            and primary open-angle glaucoma: correspondence''Primary open-angle
            glaucomaGenome-wide association analysis identifies TXNRD2, ATXN2
            and FOXC1 as susceptibility loci for primary open-angle
            glaucomaGenome-wide association study of primary open-angle
            glaucoma in continental and admixed African popula...
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 494)
  AUTHORS   Tenorio AL, Lira RPC, Carmo RFD, Galvao Filho RP, Falcao Neto PT,
            Vaz RT, Lima RE, Tenorio AL and Vasconcelos LR.
  TITLE     TXNRD2 (rs35934224) CT genotype as possible protective marker for
            primary open-angle glaucoma in a Brazilian population
  JOURNAL   Arq Bras Oftalmol 85 (2), 115-119 (2021)
   PUBMED   34431894
  REMARK    GeneRIF: TXNRD2 (rs35934224) CT genotype as possible protective
            marker for primary open-angle glaucoma in a Brazilian population.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 494)
  AUTHORS   Turanov AA, Su D and Gladyshev VN.
  TITLE     Characterization of alternative cytosolic forms and cellular
            targets of mouse mitochondrial thioredoxin reductase
  JOURNAL   J Biol Chem 281 (32), 22953-22963 (2006)
   PUBMED   16774913
  REMARK    GeneRIF: the function of TR3 is not limited to its role in Trx2
            reduction
REFERENCE   5  (residues 1 to 494)
  AUTHORS   Chang EY, Son SK, Ko HS, Baek SH, Kim JH and Kim JR.
  TITLE     Induction of apoptosis by the overexpression of an alternative
            splicing variant of mitochondrial thioredoxin reductase
  JOURNAL   Free Radic Biol Med 39 (12), 1666-1675 (2005)
   PUBMED   16298692
REFERENCE   6  (residues 1 to 494)
  AUTHORS   Arner ES and Holmgren A.
  TITLE     Physiological functions of thioredoxin and thioredoxin reductase
  JOURNAL   Eur J Biochem 267 (20), 6102-6109 (2000)
   PUBMED   11012661
  REMARK    Review article
REFERENCE   7  (residues 1 to 494)
  AUTHORS   Lescure A, Gautheret D, Carbon P and Krol A.
  TITLE     Novel selenoproteins identified in silico and in vivo by using a
            conserved RNA structural motif
  JOURNAL   J Biol Chem 274 (53), 38147-38154 (1999)
   PUBMED   10608886
REFERENCE   8  (residues 1 to 494)
  AUTHORS   Sun QA, Wu Y, Zappacosta F, Jeang KT, Lee BJ, Hatfield DL and
            Gladyshev VN.
  TITLE     Redox regulation of cell signaling by selenocysteine in mammalian
            thioredoxin reductases
  JOURNAL   J Biol Chem 274 (35), 24522-24530 (1999)
   PUBMED   10455115
REFERENCE   9  (residues 1 to 494)
  AUTHORS   Miranda-Vizuete A, Damdimopoulos AE, Pedrajas JR, Gustafsson JA and
            Spyrou G.
  TITLE     Human mitochondrial thioredoxin reductase cDNA cloning, expression
            and genomic organization
  JOURNAL   Eur J Biochem 261 (2), 405-412 (1999)
   PUBMED   10215850
REFERENCE   10 (residues 1 to 494)
  AUTHORS   Gasdaska PY, Berggren MM, Berry MJ and Powis G.
  TITLE     Cloning, sequencing and functional expression of a novel human
            thioredoxin reductase
  JOURNAL   FEBS Lett 442 (1), 105-111 (1999)
   PUBMED   9923614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB019695.1, AF044212.1 and
            AF166126.1.
            
            Summary: The protein encoded by this gene belongs to the pyridine
            nucleotide-disulfide oxidoreductase family, and is a member of the
            thioredoxin (Trx) system. Three thioredoxin reductase (TrxR)
            isozymes are found in mammals. TrxRs are selenocysteine-containing
            flavoenzymes, which reduce thioredoxins, as well as other
            substrates, and play a key role in redox homoeostasis. This gene
            encodes a mitochondrial form important for scavenging reactive
            oxygen species in mitochondria. It functions as a homodimer
            containing FAD, and selenocysteine (Sec) at the active site. Sec is
            encoded by UGA codon that normally signals translation termination.
            The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop
            structure, the Sec insertion sequence (SECIS) element, which is
            necessary for the recognition of UGA as a Sec codon rather than as
            a stop signal. Alternatively spliced transcript variants encoding
            different isoforms, including a few localized in the cytosol and
            some lacking the C-terminal Sec residue, have been found for this
            gene. [provided by RefSeq, Jun 2017].
            
            Transcript Variant: This variant (3) contains an alternate 5'
            terminal exon, and uses an alternate in-frame translation
            initiation codon compared to variant 1. The resulting isoform (3)
            has a distinct and shorter N-terminus lacking the N-terminal
            mitochondrial targeting signal, compared to isoform 1, so it is
            likely localized in the cytosol.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB019695.1, BC117354.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 10215850; reported by
                                                  MitoCarta
            NMD candidate                      :: PMID: 9923614
            protein contains selenocysteine    :: PMID: 9923614
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..494
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     Protein         1..494
                     /product="thioredoxin reductase 2, mitochondrial isoform
                     3"
                     /EC_number="1.8.1.9"
                     /note="selenoprotein Z; thioredoxin reductase 3;
                     thioredoxin reductase 2, mitochondrial; thioredoxin
                     reductase beta; thioredoxin reductase TR3"
                     /calculated_mol_wt=53483
     Region          9..494
                     /region_name="TGR"
                     /note="thioredoxin and glutathione reductase
                     selenoprotein; TIGR01438"
                     /db_xref="CDD:273624"
     Site            493
                     /site_type="other"
                     /note="Selenocysteine"
     CDS             1..494
                     /gene="TXNRD2"
                     /gene_synonym="GCCD5; SELZ; TR; TR-BETA; TR3; TRXR2"
                     /coded_by="NM_001352301.2:185..1669"
                     /note="UGA stop codon recoded as selenocysteine; isoform 3
                     is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS86999.1"
                     /db_xref="GeneID:10587"
                     /db_xref="HGNC:HGNC:18155"
                     /db_xref="MIM:606448"
ORIGIN      
        1 medqagqrdy dllvvgggsg glacakeaaq lgrkvavvdy vepspqgtrw glggtcvnvg
       61 cipkklmhqa allggliqda pnygwevaqp vphdwrkmae avqnhvksln wghrvqlqdr
      121 kvkyfnikas fvdehtvcgv akggkeills adhiiiatgg rprypthieg aleygitsdd
      181 ifwlkespgk tlvvgasyva lecagfltgi gldttimmrs iplrgfdqqm ssmviehmas
      241 hgtrflrgca psrvrrlpdg qlqvtwedst tgkedtgtfd tvlwaigrvp dtrslnleka
      301 gvdtspdtqk ilvdsreats vphiyaigdv vegrpeltpi aimagrllvq rlfggssdlm
      361 dydnvpttvf tpleygcvgl seeeavarhg qehvevyhah ykpleftvag rdasqcyvkm
      421 vclreppqlv lglhflgpna gevtqgfalg ikcgasyaqv mrtvgihptc seevvklris
      481 krsgldptvt gcug
//
LOCUS       NP_001268916            1203 aa            linear   PRI 31-DEC-2022
DEFINITION  SPOC domain-containing protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001268916 XP_005271370
VERSION     NP_001268916.1
DBSOURCE    REFSEQ: accession NM_001281987.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1203)
  AUTHORS   Takamatsu G, Yanagi K, Koganebuchi K, Yoshida F, Lee JS, Toyama K,
            Hattori K, Katagiri C, Kondo T, Kunugi H, Kimura R, Kaname T and
            Matsushita M.
  TITLE     Haplotype phasing of a bipolar disorder pedigree revealed rare
            multiple mutations of SPOCD1 gene in the 1p36-35 susceptibility
            locus
  JOURNAL   J Affect Disord 310, 96-105 (2022)
   PUBMED   35504398
  REMARK    GeneRIF: Haplotype phasing of a bipolar disorder pedigree revealed
            rare multiple mutations of SPOCD1 gene in the 1p36-35
            susceptibility locus.
REFERENCE   2  (residues 1 to 1203)
  AUTHORS   Wang C, Wang J, Shen X, Li M, Yue Y, Cheng X, Lu W, Wang X and Xie
            X.
  TITLE     LncRNA SPOCD1-AS from ovarian cancer extracellular vesicles
            remodels mesothelial cells to promote peritoneal metastasis via
            interacting with G3BP1
  JOURNAL   J Exp Clin Cancer Res 40 (1), 101 (2021)
   PUBMED   33726799
  REMARK    GeneRIF: LncRNA SPOCD1-AS from ovarian cancer extracellular
            vesicles remodels mesothelial cells to promote peritoneal
            metastasis via interacting with G3BP1.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1203)
  AUTHORS   Liang J, Zhao H, Hu J, Liu Y and Li Z.
  TITLE     SPOCD1 promotes cell proliferation and inhibits cell apoptosis in
            human osteosarcoma
  JOURNAL   Mol Med Rep 17 (2), 3218-3225 (2018)
   PUBMED   29257309
  REMARK    GeneRIF: SPOCD1 promoted cell proliferation and inhibited cell
            apoptosis through regulation of VEGFA in osteosarcoma.
REFERENCE   4  (residues 1 to 1203)
  AUTHORS   Zhu M, Yan C, Ren C, Huang X, Zhu X, Gu H, Wang M, Wang S, Gao Y,
            Ji Y, Miao X, Yang M, Chen J, Du J, Huang T, Jiang Y, Dai J, Ma H,
            Zhou J, Wang Z, Hu Z, Ji G, Zhang Z, Shen H, Shi Y and Jin G.
  TITLE     Exome Array Analysis Identifies Variants in SPOCD1 and BTN3A2 That
            Affect Risk for Gastric Cancer
  JOURNAL   Gastroenterology 152 (8), 2011-2021 (2017)
   PUBMED   28246015
  REMARK    GeneRIF: SPOCD1 genetic variants have role in gastric
            carcinogenesis.
REFERENCE   5  (residues 1 to 1203)
  AUTHORS   Wang Y and Tatakis DN.
  TITLE     Human gingiva transcriptome during wound healing
  JOURNAL   J Clin Periodontol 44 (4), 394-402 (2017)
   PUBMED   28005267
  REMARK    GeneRIF: SPOCD1 expression is significantly upregulated in human
            masticatory mucosa during wound healing
REFERENCE   6  (residues 1 to 1203)
  AUTHORS   Fardilha M, Esteves SL, Korrodi-Gregorio L, Vintem AP, Domingues
            SC, Rebelo S, Morrice N, Cohen PT, da Cruz e Silva OA and da Cruz e
            Silva EF.
  TITLE     Identification of the human testis protein phosphatase 1
            interactome
  JOURNAL   Biochem Pharmacol 82 (10), 1403-1415 (2011)
   PUBMED   21382349
REFERENCE   7  (residues 1 to 1203)
  AUTHORS   Hendrickx A, Beullens M, Ceulemans H, Den Abt T, Van Eynde A,
            Nicolaescu E, Lesage B and Bollen M.
  TITLE     Docking motif-guided mapping of the interactome of protein
            phosphatase-1
  JOURNAL   Chem Biol 16 (4), 365-371 (2009)
   PUBMED   19389623
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354919.16.
            On Aug 31, 2013 this sequence version replaced XP_005271370.1.
            
            Summary: This gene encodes a protein that belongs to the TFIIS
            family of transcription factors. Alternate splicing results in
            multiple transcript variants. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' terminal exon compared to variant 1. This
            results in a shorter protein (isoform 2) compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC114430.1, SRR14038192.2733336.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1203
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.2"
     Protein         1..1203
                     /product="SPOC domain-containing protein 1 isoform 2"
                     /note="SPOC domain-containing protein 1; protein
                     phosphatase 1, regulatory subunit 146"
                     /calculated_mol_wt=128565
     Region          1..74
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMY3.1)"
     Region          166..216
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMY3.1)"
     Region          236..325
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMY3.1)"
     Region          348..462
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMY3.1)"
     Region          511..601
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMY3.1)"
     Region          608..718
                     /region_name="TFIIS_M"
                     /note="Transcription factor S-II (TFIIS), central domain;
                     pfam07500"
                     /db_xref="CDD:429495"
     Region          823..850
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMY3.1)"
     Region          866..1003
                     /region_name="SPOC_SPOCD1"
                     /note="SPOC (Spen paralog and ortholog C-terminal) domain
                     found in SPOC domain-containing protein 1 (SPOCD1) and
                     similar proteins; cd21540"
                     /db_xref="CDD:439203"
     Region          1033..1127
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMY3.1)"
     Region          1163..1203
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMY3.1)"
     CDS             1..1203
                     /gene="SPOCD1"
                     /gene_synonym="PPP1R146"
                     /coded_by="NM_001281987.3:102..3713"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS60066.1"
                     /db_xref="GeneID:90853"
                     /db_xref="HGNC:HGNC:26338"
                     /db_xref="MIM:619038"
ORIGIN      
        1 msqagdvegp stgdpvlspq hncellqnme gassmpglsp dgpgassgpg vragsrrkip
       61 rkealrggss raagaaevrp gvlellavvq srgsmlapgl hmqlpsvptq graltskrlq
      121 vslcdildds cprklcsrsa glperalacr erlagveevs clrpreardg gmsspgcdrr
      181 sptlskeepp grpltsspdp vpvrvrkkwr rqgahsecee gagdflwldq sprgdnllsv
      241 gdppqvadle slggpcrpps pkdtgsgpge pggsgagcas gtekfgylpa tgdgpqpgsp
      301 cgpvgfpvps ggeslssaaq appqsaalcl gasaqasaeq qeavcvvrtg sdegqapaqd
      361 qeeleakaqp asrgrleqgl aapadtcass replgglsss ldteasracs gpfmeqrrsk
      421 gtknlkkgpv pcaqdrgtdr ssdnshqdrp eepspggcpr leevkiphgv klvcylgsgp
      481 viqllgaish gqaggqlppk levledlmev sspspaqrlr rkkrpmvqgp agcqvfqpsp
      541 sggtagdpgg lsdpfypprs gslalgdpss dpacsqsgpm eaeedslpeq pedsaqlqqe
      601 kpslyigvrg tvvrsmqevl wtrlrelpdp vlseevvegi aagieaalwd ltqgtngryk
      661 tkyrsllfnl rdprnldlfl kvvhgdvtpy dlvrmssmql apqelarwrd qeekrglnii
      721 eqqqkepcrl paskmthkge veiqrdmdqt ltledlvgpq mfmdcspqal piasedttgq
      781 hdhhfldpnc hickdwepsn ellgsfeaak scgdnifqka lsqtpmpape mpktrelspt
      841 epqdrvppsg lhvpaaptka lpclppwegv ldmfsikrfr araqlvsghs crlvqalptv
      901 irsagcipsn ivwdllasic pakakdvcvv rlcphgardt qncrllysyl ndrqrhglas
      961 vehmgmvllp lpafqplptr lrplggpgle vthsslllav llpkeglpdt agsspwlgkv
     1021 qkmvsfnskv ekryyqpddr rpnvplkgtp ppggawqqsq grgsiaprgi sawqrpprgr
     1081 grlwpepenw qhpgrgqwpp epglrqsqhp ysvapaghgf grgqhfhrds cphqallrhl
     1141 eslatmshql qallcpqtks siprplqrls salaapeppg pardsslgpt deagsecpfp
     1201 rka
//
LOCUS       NP_001362489             354 aa            linear   PRI 22-JAN-2023
DEFINITION  cAMP-dependent protein kinase catalytic subunit beta isoform 13
            [Homo sapiens].
ACCESSION   NP_001362489 XP_006710821
VERSION     NP_001362489.1
DBSOURCE    REFSEQ: accession NM_001375560.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 354)
  AUTHORS   Maimaitiaili Y, Fukumura Y, Hirabayashi K, Kinowaki Y, Naito Y,
            Saito A, Rong L, Nakahodo J and Yao T.
  TITLE     Investigation of -PRKACA/-PRKACB fusion genes in oncocytic tumors
            of the pancreatobiliary and other systems
  JOURNAL   Virchows Arch 481 (6), 865-876 (2022)
   PUBMED   36152045
  REMARK    GeneRIF: Investigation of -PRKACA/-PRKACB fusion genes in oncocytic
            tumors of the pancreatobiliary and other systems.
REFERENCE   2  (residues 1 to 354)
  AUTHORS   Huang Y, Feng L, Bao Y, Zhang Y, Liang J, Mao Q, Li J and Jiang C.
  TITLE     Expressing MLH1 in HCT116 cells increases cellular resistance to
            radiation by activating the PRKAC
  JOURNAL   Exp Biol Med (Maywood) 247 (5), 426-432 (2022)
   PUBMED   34787019
  REMARK    GeneRIF: Expressing MLH1 in HCT116 cells increases cellular
            resistance to radiation by activating the PRKAC.
REFERENCE   3  (residues 1 to 354)
  AUTHORS   Khamse S, Jafarian Z, Bozorgmehr A, Tavakoli M, Afshar H, Keshavarz
            M, Moayedi R and Ohadi M.
  TITLE     Novel implications of a strictly monomorphic (GCC) repeat in the
            human PRKACB gene
  JOURNAL   Sci Rep 11 (1), 20629 (2021)
   PUBMED   34667254
  REMARK    GeneRIF: Novel implications of a strictly monomorphic (GCC) repeat
            in the human PRKACB gene.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 354)
  AUTHORS   Jessulat M, Amin S, Hooshyar M, Malty R, Moutaoufik MT, Zilocchi M,
            Istace Z, Phanse S, Aoki H, Omidi K, Burnside D, Samanfar B, Aly
            KA, Golshani A and Babu M.
  TITLE     The conserved Tpk1 regulates non-homologous end joining
            double-strand break repair by phosphorylation of Nej1, a homolog of
            the human XLF
  JOURNAL   Nucleic Acids Res 49 (14), 8145-8160 (2021)
   PUBMED   34244791
  REMARK    GeneRIF: The conserved Tpk1 regulates non-homologous end joining
            double-strand break repair by phosphorylation of Nej1, a homolog of
            the human XLF.
REFERENCE   5  (residues 1 to 354)
  AUTHORS   Orstavik S, Reinton N, Frengen E, Langeland BT, Jahnsen T and
            Skalhegg BS.
  TITLE     Identification of novel splice variants of the human catalytic
            subunit Cbeta of cAMP-dependent protein kinase
  JOURNAL   Eur J Biochem 268 (19), 5066-5073 (2001)
   PUBMED   11589697
REFERENCE   6  (residues 1 to 354)
  AUTHORS   Hofmann B, Nishanian P, Nguyen T, Insixiengmay P and Fahey JL.
  TITLE     Human immunodeficiency virus proteins induce the inhibitory
            cAMP/protein kinase A pathway in normal lymphocytes
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6676-6680 (1993)
   PUBMED   7688126
REFERENCE   7  (residues 1 to 354)
  AUTHORS   Scarpetta MA and Uhler MD.
  TITLE     Evidence for two additional isoforms of the endogenous protein
            kinase inhibitor of cAMP-dependent protein kinase in mouse
  JOURNAL   J Biol Chem 268 (15), 10927-10931 (1993)
   PUBMED   7684369
REFERENCE   8  (residues 1 to 354)
  AUTHORS   Simard J, Berube D, Sandberg M, Grzeschik KH, Gagne R, Hansson V
            and Jahnsen T.
  TITLE     Assignment of the gene encoding the catalytic subunit C beta of
            cAMP-dependent protein kinase to the p36 band on chromosome 1
  JOURNAL   Hum Genet 88 (6), 653-657 (1992)
   PUBMED   1551670
REFERENCE   9  (residues 1 to 354)
  AUTHORS   Beebe SJ, Oyen O, Sandberg M, Froysa A, Hansson V and Jahnsen T.
  TITLE     Molecular cloning of a tissue-specific protein kinase (C gamma)
            from human testis--representing a third isoform for the catalytic
            subunit of cAMP-dependent protein kinase
  JOURNAL   Mol Endocrinol 4 (3), 465-475 (1990)
   PUBMED   2342480
REFERENCE   10 (residues 1 to 354)
  AUTHORS   Taylor SS, Buechler JA and Yonemoto W.
  TITLE     cAMP-dependent protein kinase: framework for a diverse family of
            regulatory enzymes
  JOURNAL   Annu Rev Biochem 59, 971-1005 (1990)
   PUBMED   2165385
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL450063.14.
            On Oct 29, 2019 this sequence version replaced XP_006710821.1.
            
            Summary: The protein encoded by this gene is a member of the
            serine/threonine protein kinase family. The encoded protein is a
            catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase,
            which mediates signalling though cAMP. cAMP signaling is important
            to a number of processes, including cell proliferaton and
            differentiation. Multiple alternatively spliced transcript variants
            encoding distinct isoforms have been observed. [provided by RefSeq,
            Jul 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.21772.1,
                                           SRR14372079.3681217.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     Protein         1..354
                     /product="cAMP-dependent protein kinase catalytic subunit
                     beta isoform 13"
                     /EC_number="2.7.11.11"
                     /note="protein kinase A catalytic subunit beta; protein
                     kinase, cAMP-dependent, catalytic, beta; protein kinase,
                     cAMP-dependent, beta catalytic subunit"
                     /calculated_mol_wt=40816
     Region          45..334
                     /region_name="STKc_PKA"
                     /note="Catalytic subunit of the Serine/Threonine Kinase,
                     cAMP-dependent protein kinase; cd14209"
                     /db_xref="CDD:271111"
     Site            order(53..59,61,74,76,108,124..127,131,170,172,174..175,
                     177,187..188,331)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271111"
     Site            order(54..59,61,74,76,86,108,124..125,127,131,133,137,170,
                     172..175,177,187..188,191,202,204..207,234,238..240,
                     243..245,247,250,331,334)
                     /site_type="active"
                     /db_xref="CDD:271111"
     Site            order(55,57..58,86..88,131,133,137,170,172..174,191,
                     202..207,234,238..240,243..245,247,250..251,334)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271111"
     Site            order(57,87..88,90..91,131,133,137,172..174,191,198,
                     200..205,208,215..217,234,247..248,251..252,255,334)
                     /site_type="other"
                     /note="regulatory subunit interface [polypeptide binding]"
                     /db_xref="CDD:271111"
     Site            187..207
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271111"
     CDS             1..354
                     /gene="PRKACB"
                     /gene_synonym="CAFD2; PKA C-beta; PKACB"
                     /coded_by="NM_001375560.1:314..1378"
                     /note="isoform 13 is encoded by transcript variant 13"
                     /db_xref="GeneID:5567"
                     /db_xref="HGNC:HGNC:9381"
                     /db_xref="MIM:176892"
ORIGIN      
        1 msarkssdas acssseisvk eflakakedf lkkwenptqn nagledferk ktlgtgsfgr
       61 vmlvkhkate qyyamkildk qkvvklkqie htlnekrilq avnfpflvrl eyafkdnsnl
      121 ymvmeyvpgg emfshlrrig rfsepharfy aaqivltfey lhsldliyrd lkpenllidh
      181 qgyiqvtdfg fakrvkgrtw tlcgtpeyla peiilskgyn kavdwwalgv liyemaagyp
      241 pffadqpiqi yekivsgkvr fpshfssdlk dllrnllqvd ltkrfgnlkn gvsdikthkw
      301 fattdwiaiy qrkveapfip kfrgsgdtsn fddyeeedir vsitekcake fgef
//
LOCUS       NP_001339440             489 aa            linear   PRI 29-JAN-2023
DEFINITION  reduced folate transporter isoform 2 [Homo sapiens].
ACCESSION   NP_001339440
VERSION     NP_001339440.1
DBSOURCE    REFSEQ: accession NM_001352511.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 489)
  AUTHORS   Halder P, Pal U, Ganguly A, Ghosh P, Ray A, Sarkar S and Ghosh S.
  TITLE     Genetic aetiology of Down syndrome birth: novel variants of
            maternal DNMT3B and RFC1 genes increase risk of meiosis II
            nondisjunction in the oocyte
  JOURNAL   Mol Genet Genomics 298 (1), 293-313 (2023)
   PUBMED   36447056
  REMARK    GeneRIF: Genetic aetiology of Down syndrome birth: novel variants
            of maternal DNMT3B and RFC1 genes increase risk of meiosis II
            nondisjunction in the oocyte.
REFERENCE   2  (residues 1 to 489)
  AUTHORS   Zhang Q, Zhang X, Zhu Y, Sun P, Zhang L, Ma J, Zhang Y, Zeng L, Nie
            X, Gao Y, Li Z, Liu S, Lou J, Gao A, Zhang L and Gao P.
  TITLE     Recognition of cyclic dinucleotides and folates by human SLC19A1
  JOURNAL   Nature 612 (7938), 170-176 (2022)
   PUBMED   36265513
  REMARK    GeneRIF: Recognition of cyclic dinucleotides and folates by human
            SLC19A1.
REFERENCE   3  (residues 1 to 489)
  AUTHORS   O'Brien NL, Quadri G, Lightley I, Sharp SI, Guerrini I, Smith I,
            Heydtmann M, Morgan MY, Thomson AD, Bass NJ, McHugh PC and
            McQuillin A.
  TITLE     SLC19A1 Genetic Variation Leads to Altered Thiamine Diphosphate
            Transport: Implications for the Risk of Developing
            Wernicke-Korsakoff's Syndrome
  JOURNAL   Alcohol Alcohol 57 (5), 581-588 (2022)
   PUBMED   35952336
  REMARK    GeneRIF: SLC19A1 Genetic Variation Leads to Altered Thiamine
            Diphosphate Transport: Implications for the Risk of Developing
            Wernicke-Korsakoff's Syndrome.
REFERENCE   4  (residues 1 to 489)
  AUTHORS   Wright NJ, Fedor JG, Zhang H, Jeong P, Suo Y, Yoo J, Hong J, Im W
            and Lee SY.
  TITLE     Methotrexate recognition by the human reduced folate carrier
            SLC19A1
  JOURNAL   Nature 609 (7929), 1056-1062 (2022)
   PUBMED   36071163
  REMARK    GeneRIF: Methotrexate recognition by the human reduced folate
            carrier SLC19A1.
REFERENCE   5  (residues 1 to 489)
  AUTHORS   Li W, Yuan P, Liu W, Xiao L, Xu C, Mo Q, Xu S, He Y, Jiang D and
            Wang X.
  TITLE     Hypoxia-Immune-Related Gene SLC19A1 Serves as a Potential Biomarker
            for Prognosis in Multiple Myeloma
  JOURNAL   Front Immunol 13, 843369 (2022)
   PUBMED   35958555
  REMARK    GeneRIF: Hypoxia-Immune-Related Gene SLC19A1 Serves as a Potential
            Biomarker for Prognosis in Multiple Myeloma.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 489)
  AUTHORS   Moscow JA, Gong M, He R, Sgagias MK, Dixon KH, Anzick SL, Meltzer
            PS and Cowan KH.
  TITLE     Isolation of a gene encoding a human reduced folate carrier (RFC1)
            and analysis of its expression in transport-deficient,
            methotrexate-resistant human breast cancer cells
  JOURNAL   Cancer Res 55 (17), 3790-3794 (1995)
   PUBMED   7641195
REFERENCE   7  (residues 1 to 489)
  AUTHORS   Wong SC, Proefke SA, Bhushan A and Matherly LH.
  TITLE     Isolation of human cDNAs that restore methotrexate sensitivity and
            reduced folate carrier activity in methotrexate transport-defective
            Chinese hamster ovary cells
  JOURNAL   J Biol Chem 270 (29), 17468-17475 (1995)
   PUBMED   7615551
REFERENCE   8  (residues 1 to 489)
  AUTHORS   Yang-Feng TL, Ma YY, Liang R, Prasad PD, Leibach FH and Ganapathy
            V.
  TITLE     Assignment of the human folate transporter gene to chromosome
            21q22.3 by somatic cell hybrid analysis and in situ hybridization
  JOURNAL   Biochem Biophys Res Commun 210 (3), 874-879 (1995)
   PUBMED   7763259
REFERENCE   9  (residues 1 to 489)
  AUTHORS   Williams FM and Flintoff WF.
  TITLE     Isolation of a human cDNA that complements a mutant hamster cell
            defective in methotrexate uptake
  JOURNAL   J Biol Chem 270 (7), 2987-2992 (1995)
   PUBMED   7852378
REFERENCE   10 (residues 1 to 489)
  AUTHORS   Prasad PD, Ramamoorthy S, Leibach FH and Ganapathy V.
  TITLE     Molecular cloning of the human placental folate transporter
  JOURNAL   Biochem Biophys Res Commun 206 (2), 681-687 (1995)
   PUBMED   7826387
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX322561.1 and BC023005.1.
            
            Summary: The membrane protein encoded by this gene is a transporter
            of folate and is involved in the regulation of intracellular
            concentrations of folate. Three transcript variants encoding
            different isoforms have been found for this gene.[provided by
            RefSeq, Mar 2011].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.258883.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2146236
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..489
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..489
                     /product="reduced folate transporter isoform 2"
                     /note="folate transporter 1; reduced folate transporter 1;
                     placental folate transporter; reduced folate carrier
                     protein; solute carrier family 19 (folate transporter),
                     member 1; intestinal folate carrier 1; reduced folate
                     carrier 1; folate:anion antiporter SLC19A1; cyclic
                     dinucleotide:anion antiporter SLC19A1"
                     /calculated_mol_wt=54131
     Region          1..431
                     /region_name="rfc"
                     /note="RFC reduced folate carrier; TIGR00806"
                     /db_xref="CDD:129888"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P41440.3)"
     Site            5
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P41440.3)"
     Site            24..44
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P41440.3)"
     Site            58
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255, ECO:0000269|PubMed:9767079;
                     propagated from UniProtKB/Swiss-Prot (P41440.3)"
     Site            71..89
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P41440.3)"
     Site            96..116
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P41440.3)"
     Site            124..144
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P41440.3)"
     Site            160..177
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P41440.3)"
     Site            187..203
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P41440.3)"
     Site            225
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P41440.3)"
     Site            260..287
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P41440.3)"
     Site            310..327
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P41440.3)"
     Site            334..354
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P41440.3)"
     Site            361..378
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P41440.3)"
     Site            395..419
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P41440.3)"
     Region          407..419
                     /region_name="Required for substrate-binding.
                     /evidence=ECO:0000269|PubMed:16115875"
                     /note="propagated from UniProtKB/Swiss-Prot (P41440.3)"
     CDS             1..489
                     /gene="SLC19A1"
                     /gene_synonym="CHMD; FOLT; hRFC; hSLC19A1; IFC-1; IFC1;
                     MEGAF; REFC; RFC; RFC1; RFT-1"
                     /coded_by="NM_001352511.3:334..1803"
                     /note="isoform 2 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS56218.1"
                     /db_xref="GeneID:6573"
                     /db_xref="HGNC:HGNC:10937"
                     /db_xref="MIM:600424"
ORIGIN      
        1 mvpsspavek qvpvepgpdp elrswrhlvc ylcfygfmaq irpgesfitp yllgpdknft
       61 reqvtneitp vlsysylavl vpvflltdyl rytpvlllqg lsfvsvwlll llghsvahmq
      121 lmelfysvtm aariayssyi fslvrparyq rvagysraav llgvftssvl gqllvtvgrv
      181 sfstlnyisl afltfsvvla lflkrpkrsl ffnrddrgrc etsaselerm npgpggklgh
      241 alrvacgdsv larmlrelgd slrrpqlrlw slwwvfnsag yylvvyyvhi lwnevdpttn
      301 sarvyngaad aastllgait sfaagfvkir warwskllia gvtatqaglv fllahtrhps
      361 siwlcyaafv lfrgsyqflv piatfqiass lskelcalvf gvntffativ ktiitfivsd
      421 vrglglpvrk qneelhvasl slwkshlrla adtlssegss gsgprswfls ptlraalhgp
      481 vcpsevcps
//
LOCUS       NP_001382991             604 aa            linear   PRI 29-JAN-2023
DEFINITION  endogenous retrovirus group 3 member 1 Env polyprotein precursor
            [Homo sapiens].
ACCESSION   NP_001382991
VERSION     NP_001382991.1
DBSOURCE    REFSEQ: accession NM_001396062.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 604)
  AUTHORS   Alldredge J, Kumar V, Nguyen J, Sanders BE, Gomez K, Jayachandran
            K, Zhang J, Schwarz J and Rahmatpanah F.
  TITLE     Endogenous Retrovirus RNA Expression Differences between Race,
            Stage and HPV Status Offer Improved Prognostication among Women
            with Cervical Cancer
  JOURNAL   Int J Mol Sci 24 (2), 1492 (2023)
   PUBMED   36675007
  REMARK    GeneRIF: Endogenous Retrovirus RNA Expression Differences between
            Race, Stage and HPV Status Offer Improved Prognostication among
            Women with Cervical Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 604)
  AUTHORS   Roberts RM, Ezashi T, Schulz LC, Sugimoto J, Schust DJ, Khan T and
            Zhou J.
  TITLE     Syncytins expressed in human placental trophoblast
  JOURNAL   Placenta 113, 8-14 (2021)
   PUBMED   33504453
  REMARK    Review article
REFERENCE   3  (residues 1 to 604)
  AUTHORS   Nakagawa S, Kawashima M, Miyatake Y, Kudo K, Kotaki R, Ando K and
            Kotani A.
  TITLE     Expression of ERV3-1 in leukocytes of acute myelogenous leukemia
            patients
  JOURNAL   Gene 773, 145363 (2021)
   PUBMED   33338509
  REMARK    GeneRIF: Expression of ERV3-1 in leukocytes of acute myelogenous
            leukemia patients.
REFERENCE   4  (residues 1 to 604)
  AUTHORS   Bustamante Rivera YY, Brutting C, Schmidt C, Volkmer I and Staege
            MS.
  TITLE     Endogenous Retrovirus 3 - History, Physiology, and Pathology
  JOURNAL   Front Microbiol 8, 2691 (2018)
   PUBMED   29379485
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 604)
  AUTHORS   Herve CA, Forrest G, Lower R, Griffiths DJ and Venables PJ.
  TITLE     Conservation and loss of the ERV3 open reading frame in primates
  JOURNAL   Genomics 83 (5), 940-943 (2004)
   PUBMED   15081124
  REMARK    GeneRIF: molecular evolution and comparison with other primates
REFERENCE   6  (residues 1 to 604)
  AUTHORS   Venables PJ, Brookes SM, Griffiths D, Weiss RA and Boyd MT.
  TITLE     Abundance of an endogenous retroviral envelope protein in placental
            trophoblasts suggests a biological function
  JOURNAL   Virology 211 (2), 589-592 (1995)
   PUBMED   7645262
REFERENCE   7  (residues 1 to 604)
  AUTHORS   Kato N, Shimotohno K, VanLeeuwen D and Cohen M.
  TITLE     Human proviral mRNAs down regulated in choriocarcinoma encode a
            zinc finger protein related to Kruppel
  JOURNAL   Mol Cell Biol 10 (8), 4401-4405 (1990)
   PUBMED   2115127
REFERENCE   8  (residues 1 to 604)
  AUTHORS   Kato N, Larsson E and Cohen M.
  TITLE     Absence of expression of a human endogenous retrovirus is
            correlated with choriocarcinoma
  JOURNAL   Int J Cancer 41 (3), 380-385 (1988)
   PUBMED   3346101
REFERENCE   9  (residues 1 to 604)
  AUTHORS   Cohen M, Kato N and Larsson E.
  TITLE     ERV3 human endogenous provirus mRNAs are expressed in normal and
            malignant tissues and cells, but not in choriocarcinoma tumor cells
  JOURNAL   J Cell Biochem 36 (2), 121-128 (1988)
   PUBMED   3356751
REFERENCE   10 (residues 1 to 604)
  AUTHORS   Kato,N., Pfeifer-Ohlsson,S., Kato,M., Larsson,E., Rydnert,J.,
            Ohlsson,R. and Cohen,M.
  TITLE     Tissue-specific expression of human provirus ERV3 mRNA in human
            placenta: two of the three ERV3 mRNAs contain human cellular
            sequences
  JOURNAL   J Virol 61 (7), 2182-2191 (1987)
   PUBMED   2884330
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073210.8.
            
            Summary: This gene contains sequence derived from endogenous
            retrovirus, and is therefore similar to multiple other loci in the
            genome. Transcripts at this locus encode a conserved protein with a
            predicted signal peptide and similarity to the Env polyprotein.
            This protein is overexpressed in colorectal and other cancers.
            [provided by RefSeq, Jan 2017].
            
            Sequence Note: The RefSeq transcript was derived from the reference
            genome assembly. The genomic coordinates were determined from
            alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.27242.1,
                                           SRR14038193.1357933.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            endogenous retrovirus :: PMID: 15081124
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..604
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.21"
     Protein         1..604
                     /product="endogenous retrovirus group 3 member 1 Env
                     polyprotein precursor"
                     /note="HERV-R_7q21.2 provirus ancestral Env polyprotein;
                     ERV-R envelope protein; HERV-R envelope protein; ERV3-1
                     envelope protein; endogenous retrovirus group 3 member 1
                     Env polyprotein; endogenous retroviral sequence 3;
                     endogenous retrovirus group 3, member 1"
                     /calculated_mol_wt=65497
     sig_peptide     1..22
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2463
     mat_peptide     23..604
                     /product="Endogenous retrovirus group 3 member 1 Env
                     polyprotein. /id=PRO_0000008477"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14264.2)"
                     /calculated_mol_wt=65497
     mat_peptide     23..471
                     /product="Surface protein. /evidence=ECO:0000250.
                     /id=PRO_0000008478"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14264.2)"
                     /calculated_mol_wt=50319
     Site            64
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14264.2)"
     Site            105
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14264.2)"
     Region          165..168
                     /region_name="CXXC. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14264.2)"
     Site            201
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14264.2)"
     Site            316
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14264.2)"
     Site            369
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14264.2)"
     Site            382
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14264.2)"
     Site            399
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14264.2)"
     Region          <413..583
                     /region_name="TLV_coat"
                     /note="ENV polyprotein (coat polyprotein); pfam00429"
                     /db_xref="CDD:306850"
     Site            471..472
                     /site_type="cleavage"
                     /note="Cleavage. /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (Q14264.2)"
     mat_peptide     472..604
                     /product="Transmembrane protein. /evidence=ECO:0000250.
                     /id=PRO_0000008479"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14264.2)"
                     /calculated_mol_wt=15196
     Region          521..597
                     /region_name="Ebola-like_HR1-HR2"
                     /note="heptad repeat 1-heptad repeat 2 region of the
                     transmembrane subunit of Filoviridae viruses, Ebola virus
                     and Marburg virus, and related domains; cd09850"
                     /db_xref="CDD:197367"
     Site            order(521..523,525..526,528..529,531..533,535..537,
                     539..540,542..544,546..554,556..558,560..561,567..568,571,
                     575..578,580,586..587,590,593..594,597)
                     /site_type="other"
                     /note="homotrimer interface [polypeptide binding]"
                     /db_xref="CDD:197367"
     Site            order(521..523,525..527,529..530,532..534,537..541,
                     543..546,548..549,551..553,555..556,558)
                     /site_type="other"
                     /note="HR1-GP1 interface [polypeptide binding]"
                     /db_xref="CDD:197367"
     Site            521..529
                     /site_type="other"
                     /note="HR1A"
                     /db_xref="CDD:197367"
     Site            527
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14264.2)"
     Site            530..539
                     /site_type="other"
                     /note="HR1B"
                     /db_xref="CDD:197367"
     Site            540..546
                     /site_type="other"
                     /note="HR1C"
                     /db_xref="CDD:197367"
     Site            547..562
                     /site_type="other"
                     /note="HR1D"
                     /db_xref="CDD:197367"
     Site            order(547,550)
                     /site_type="other"
                     /note="Cl binding site [ion binding]"
                     /db_xref="CDD:197367"
     Region          548..564
                     /region_name="CKS-17. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14264.2)"
     Site            548..564
                     /site_type="other"
                     /note="immunosuppressive region"
                     /db_xref="CDD:197367"
     Region          565..574
                     /region_name="CX6CC. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14264.2)"
     Site            order(565..571,573)
                     /site_type="other"
                     /note="CX(6,7)C motif"
                     /db_xref="CDD:197367"
     Site            569
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14264.2)"
     Site            585..597
                     /site_type="other"
                     /note="HR2"
                     /db_xref="CDD:197367"
     CDS             1..604
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /coded_by="NM_001396062.1:711..2525"
                     /db_xref="CCDS:CCDS47595.1"
                     /db_xref="GeneID:2086"
                     /db_xref="HGNC:HGNC:3454"
                     /db_xref="MIM:131170"
ORIGIN      
        1 mlgmnmllit lflllplsml kgepwegclh cthttwsgni mtktllyhty yecagtclgt
       61 cthnqttysv cdpgrgqpyv cydpksspgt wfeihvgske gdllnqtkvf psgkdvvsly
      121 fdvcqivsmg slfpvifssm eyysschknr yahpacstds pvttcwdctt wstnqqslgp
      181 imltkiplep dcktstcnsv nltilepdqp iwttglkapl garvsgeeig pgayvylyii
      241 kktrtrstqq frvfesfyeh vnqklpeppp lasnlfaqla eniasslhva scyvcggmnm
      301 gdqwpweare lmpqdnftlt asslepapss qsiwflktsi igkfciarwg kaftdpvgel
      361 tclgqqyyne tlgktlwrgk snnsesphps pfsrfpslnh swyqleapnt wqapsglywi
      421 cgpqayrqlp akwsgacvlg tirpsfflmp lkqgealgyp iydetkrksk rgitigdwkd
      481 newpperiiq yygpatwaed gmwgyrtpvy mlnriirlqa vleiitneta galnllaqqa
      541 tkmrnviyqn rlaldyllaq eegvcgkfnl tnccleldde gkvikeitak iqklahipvq
      601 twkg
//
LOCUS       NP_001135836             294 aa            linear   PRI 05-MAR-2023
DEFINITION  dolichyl-phosphate beta-glucosyltransferase isoform 2 [Homo
            sapiens].
ACCESSION   NP_001135836
VERSION     NP_001135836.1
DBSOURCE    REFSEQ: accession NM_001142364.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 294)
  AUTHORS   Lemoine H, Raud L, Foulquier F, Sayer JA, Lambert B, Olinger E,
            Lefevre S, Knebelmann B, Harris PC, Trouve P, Despres A, Duneau G,
            Matignon M, Poyet A, Jourde-Chiche N, Guerrot D, Lemoine S, Seret
            G, Barroso-Gil M, Bingham C, Gilbert R, Le Meur Y, Audrezet MP and
            Cornec-Le Gall E.
  CONSRTM   Genomics England Research Consortium; Genkyst Study Group
  TITLE     Monoallelic pathogenic ALG5 variants cause atypical polycystic
            kidney disease and interstitial fibrosis
  JOURNAL   Am J Hum Genet 109 (8), 1484-1499 (2022)
   PUBMED   35896117
  REMARK    GeneRIF: Monoallelic pathogenic ALG5 variants cause atypical
            polycystic kidney disease and interstitial fibrosis.
REFERENCE   2  (residues 1 to 294)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   3  (residues 1 to 294)
  AUTHORS   Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG and
            Hennet T.
  TITLE     A mutation in the human ortholog of the Saccharomyces cerevisiae
            ALG6 gene causes carbohydrate-deficient glycoprotein syndrome
            type-Ic
  JOURNAL   Proc Natl Acad Sci U S A 96 (12), 6982-6987 (1999)
   PUBMED   10359825
REFERENCE   4  (residues 1 to 294)
  AUTHORS   Harris,P.C. and Torres,V.E.
  TITLE     Polycystic Kidney Disease, Autosomal Dominant
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301424
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP246765.1, AK299085.1 and
            BU739112.1.
            
            Summary: This gene encodes a member of the glycosyltransferase 2
            family. The encoded protein participates in glucosylation of the
            oligomannose core in N-linked glycosylation of proteins. The
            addition of glucose residues to the oligomannose core is necessary
            to ensure substrate recognition, and therefore, effectual transfer
            of the oligomannose core to the nascent glycoproteins. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. The resulting
            isoform (2) has the same N- and C-termini but is shorter than
            isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK299085.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..294
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.3"
     Protein         1..294
                     /product="dolichyl-phosphate beta-glucosyltransferase
                     isoform 2"
                     /EC_number="2.4.1.117"
                     /note="asparagine-linked glycosylation 5 homolog (yeast,
                     dolichyl-phosphate beta-glucosyltransferase);
                     asparagine-linked glycosylation 5 homolog (S. cerevisiae,
                     dolichyl-phosphate beta-glucosyltransferase); dolichyl
                     phosphate glucosyltransferase; Alg5, S. cerevisiae,
                     homolog of; dolP-glucosyltransferase; asparagine-linked
                     glycosylation protein 5 homolog; asparagine-linked
                     glycosylation 5, dolichyl-phosphate
                     beta-glucosyltransferase homolog"
                     /calculated_mol_wt=33394
     Region          69..259
                     /region_name="DPG_synthase"
                     /note="DPG_synthase is involved in protein N-linked
                     glycosylation; cd04188"
                     /db_xref="CDD:133031"
     Site            order(72,74,135)
                     /site_type="active"
                     /note="Ligand binding site [active]"
                     /db_xref="CDD:133031"
     Site            133..135
                     /site_type="active"
                     /note="DXD motif [active]"
                     /db_xref="CDD:133031"
     CDS             1..294
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /coded_by="NM_001142364.1:68..952"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS45033.1"
                     /db_xref="GeneID:29880"
                     /db_xref="HGNC:HGNC:20266"
                     /db_xref="MIM:604565"
ORIGIN      
        1 maplllqlav lgaalaaaal vlisivaftt atkmpalhrh eeekfflnak gqketlpsiw
       61 dsptkqlsvv vpsyneekrl pvmmdealsy lekrqkygsd kvrvitlvkn rgkggairmg
      121 ifssrgekil madadgatkf pdveklekgl ndlqpwpnqm aiacgsrahl ekesiaqrsy
      181 frtllmygfh flvwflcvkg irdtqcgfkl ftreaasrtf sslhverwaf dvellyiaqf
      241 fkipiaeiav nwteiegskl vpfwswlqmg kdllfirlry ltgawrleqt rkmn
//
LOCUS       NP_001271280             825 aa            linear   PRI 15-MAR-2023
DEFINITION  sodium/hydrogen exchanger 3 isoform 2 [Homo sapiens].
ACCESSION   NP_001271280 XP_005248411
VERSION     NP_001271280.1
DBSOURCE    REFSEQ: accession NM_001284351.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 825)
  AUTHORS   Anbazhagan AN, Priyamvada S, Kumar A, Jayawardena D, Borthakur A,
            Gill RK, Alrefai WA, Dudeja PK and Saksena S.
  TITLE     Downregulation of NHE-3 (SLC9A3) expression by MicroRNAs in
            intestinal epithelial cells
  JOURNAL   Am J Physiol Cell Physiol 323 (6), C1720-C1727 (2022)
   PUBMED   36189974
  REMARK    GeneRIF: Downregulation of NHE-3 (SLC9A3) expression by MicroRNAs
            in intestinal epithelial cells.
REFERENCE   2  (residues 1 to 825)
  AUTHORS   Dong Y, Li H, Ilie A, Gao Y, Boucher A, Zhang XC, Orlowski J and
            Zhao Y.
  TITLE     Structural basis of autoinhibition of the human NHE3-CHP1 complex
  JOURNAL   Sci Adv 8 (21), eabn3925 (2022)
   PUBMED   35613257
REFERENCE   3  (residues 1 to 825)
  AUTHORS   Xue J, Dominguez Rieg JA, Thomas L, White JR and Rieg T.
  TITLE     Intestine-Specific NHE3 Deletion in Adulthood Causes Microbial
            Dysbiosis
  JOURNAL   Front Cell Infect Microbiol 12, 896309 (2022)
   PUBMED   35719363
  REMARK    GeneRIF: Intestine-Specific NHE3 Deletion in Adulthood Causes
            Microbial Dysbiosis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 825)
  AUTHORS   Jenkin KA, Han Y, Lin S, He P and Yun CC.
  TITLE     Nedd4-2-dependent Ubiquitination Potentiates the Inhibition of
            Human NHE3 by Cholera Toxin and Enteropathogenic Escherichia coli
  JOURNAL   Cell Mol Gastroenterol Hepatol 13 (3), 695-716 (2022)
   PUBMED   34823064
  REMARK    GeneRIF: Nedd4-2-dependent Ubiquitination Potentiates the
            Inhibition of Human NHE3 by Cholera Toxin and Enteropathogenic
            Escherichia coli.
REFERENCE   5  (residues 1 to 825)
  AUTHORS   Han Y and Yun CC.
  TITLE     Ubiquitin-specific peptidase 7 (USP7) and USP10 mediate
            deubiquitination of human NHE3 regulating its expression and
            activity
  JOURNAL   FASEB J 34 (12), 16476-16488 (2020)
   PUBMED   33095475
  REMARK    GeneRIF: Ubiquitin-specific peptidase 7 (USP7) and USP10 mediate
            deubiquitination of human NHE3 regulating its expression and
            activity.
REFERENCE   6  (residues 1 to 825)
  AUTHORS   Dudeja PK, Rao DD, Syed I, Joshi V, Dahdal RY, Gardner C, Risk MC,
            Schmidt L, Bavishi D, Kim KE, Harig JM, Goldstein JL, Layden TJ and
            Ramaswamy K.
  TITLE     Intestinal distribution of human Na+/H+ exchanger isoforms NHE-1,
            NHE-2, and NHE-3 mRNA
  JOURNAL   Am J Physiol 271 (3 Pt 1), G483-G493 (1996)
   PUBMED   8843774
REFERENCE   7  (residues 1 to 825)
  AUTHORS   Colombani V, Silviani V, Marteau C, Lerique B, Cartouzou G and
            Gerolami A.
  TITLE     Presence of the NHE3 isoform of the Na+/H+ exchanger in human
            gallbladder
  JOURNAL   Clin Sci (Lond) 91 (2), 209-212 (1996)
   PUBMED   8795445
REFERENCE   8  (residues 1 to 825)
  AUTHORS   Brant SR, Yun CH, Donowitz M and Tse CM.
  TITLE     Cloning, tissue distribution, and functional analysis of the human
            Na+/N+ exchanger isoform, NHE3
  JOURNAL   Am J Physiol 269 (1 Pt 1), C198-C206 (1995)
   PUBMED   7631746
REFERENCE   9  (residues 1 to 825)
  AUTHORS   Brant SR, Bernstein M, Wasmuth JJ, Taylor EW, McPherson JD, Li X,
            Walker S, Pouyssegur J, Donowitz M, Tse CM et al.
  TITLE     Physical and genetic mapping of a human apical epithelial Na+/H+
            exchanger (NHE3) isoform to chromosome 5p15.3
  JOURNAL   Genomics 15 (3), 668-672 (1993)
   PUBMED   8096830
REFERENCE   10 (residues 1 to 825)
  AUTHORS   Orlowski J, Kandasamy RA and Shull GE.
  TITLE     Molecular cloning of putative members of the Na/H exchanger gene
            family. cDNA cloning, deduced amino acid sequence, and mRNA tissue
            expression of the rat Na/H exchanger NHE-1 and two structurally
            related proteins
  JOURNAL   J Biol Chem 267 (13), 9331-9339 (1992)
   PUBMED   1577762
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC106772.3, BC011555.1,
            BC143328.1, BC101669.1, BP270851.1 and AC010442.7.
            On Sep 28, 2013 this sequence version replaced XP_005248411.1.
            
            Summary: The protein encoded by this gene is an epithelial brush
            border Na/H exchanger that uses an inward sodium ion gradient to
            expel acids from the cell. Defects in this gene are a cause of
            congenital secretory sodium diarrhea. Pseudogenes of this gene
            exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            acceptor splice site in the mid-coding region compared to variant
            1. The resulting shorter isoform (2) lacks a 9 aa protein segment
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC143328.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..825
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     Protein         1..825
                     /product="sodium/hydrogen exchanger 3 isoform 2"
                     /note="Na(+)/H(+) exchanger 3; solute carrier family 9
                     (sodium/hydrogen exchanger), member 3; solute carrier
                     family 9, subfamily A (NHE3, cation proton antiporter 3),
                     member 3"
                     /calculated_mol_wt=91774
     Region          48..637
                     /region_name="b_cpa1"
                     /note="sodium/hydrogen exchanger 3; TIGR00840"
                     /db_xref="CDD:273294"
     Site            80..99
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P48764.2)"
     Site            113..133
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P48764.2)"
     Site            140..160
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P48764.2)"
     Site            181..202
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P48764.2)"
     Site            211..232
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P48764.2)"
     Site            241
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P48764.2)"
     Site            253..274
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P48764.2)"
     Site            291..309
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P48764.2)"
     Site            326
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P48764.2)"
     Site            341..362
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P48764.2)"
     Site            370..390
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P48764.2)"
     Site            546
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P26433; propagated from
                     UniProtKB/Swiss-Prot (P48764.2)"
     Site            554
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P26433; propagated from
                     UniProtKB/Swiss-Prot (P48764.2)"
     Region          581..658
                     /region_name="Interaction with NHERF4.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P48764.2)"
     Site            583
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:G3X939; propagated from
                     UniProtKB/Swiss-Prot (P48764.2)"
     Site            598
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P26433; propagated from
                     UniProtKB/Swiss-Prot (P48764.2)"
     Site            654
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by SGK1.
                     /evidence=ECO:0000250|UniProtKB:P26432; propagated from
                     UniProtKB/Swiss-Prot (P48764.2)"
     Region          670..719
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P48764.2)"
     Site            801
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:G3X939; propagated from
                     UniProtKB/Swiss-Prot (P48764.2)"
     Site            804
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:G3X939; propagated from
                     UniProtKB/Swiss-Prot (P48764.2)"
     Region          805..825
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P48764.2)"
     CDS             1..825
                     /gene="SLC9A3"
                     /gene_synonym="DIAR8; NHE-3; NHE3"
                     /coded_by="NM_001284351.3:128..2605"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS64116.1"
                     /db_xref="GeneID:6550"
                     /db_xref="HGNC:HGNC:11073"
                     /db_xref="MIM:182307"
ORIGIN      
        1 mwglgargpd rglllalalg glaraggvev epggahgesg gfqvvtfewa hvqdpyvial
       61 wilvaslaki gfhlshkvts vvpesalliv lglvlggivw aadhiasftl tptvfffyll
      121 ppivldagyf mpnrlffgnl gtillyavvg tvwnaattgl slygvflsgl mgdlqiglld
      181 fllfgslmaa vdpvavlavf eevhvnevlf iivfgeslln davtvvlynv fesfvalggd
      241 nvtgvdcvkg ivsffvvslg gtlvgvvfaf llslvtrftk hvriiepgfv fiisylsylt
      301 semlslsail aitfcgiccq kyvkaniseq sattvrytmk mlassaetii fmflgisavn
      361 pfiwtwntaf vlltlvfisv yraigvvlqt wllnryrmvq lepidqvvls ygglrgavaf
      421 alvvlldgdk vkeknlfvst tiivvfftvi fqwlkvkrse hreprlnekl hgrafdhils
      481 aiedisgqig hnylrdkwsh fdrkflsrvl mrrsaqksrd rilnvfheln lkdaisyvae
      541 gerrgslafi rspstdnvvn vdftprsstv easvsyllre nvsavcldmq sleqrrrsir
      601 daedmvthht lqqylykprq eykhlysrhe ltptedekqd reifhrtmrk rlesfkstkl
      661 glnqnkkaak lykreraqkr rnssipngkl pmespaqnft ikekdlelsd teeppnydee
      721 msggieflas vtkdtasdsp agidnpvfsp dealdrslla rlppwlspge tvvpsqrart
      781 qipyspgtfc rlmpfrlssk svdsflqadg peerppaalp esthm
//
LOCUS       NP_001070820             405 aa            linear   PRI 15-MAR-2023
DEFINITION  probable RNA-binding protein 23 isoform 3 [Homo sapiens].
ACCESSION   NP_001070820
VERSION     NP_001070820.1
DBSOURCE    REFSEQ: accession NM_001077352.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 405)
  AUTHORS   Han H, Lin T, Fang Z and Zhou G.
  TITLE     RBM23 Drives Hepatocellular Carcinoma by Activating NF-kappaB
            Signaling Pathway
  JOURNAL   Biomed Res Int 2021, 6697476 (2021)
   PUBMED   33791378
  REMARK    GeneRIF: RBM23 Drives Hepatocellular Carcinoma by Activating
            NF-kappaB Signaling Pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 405)
  AUTHORS   Faust TB, Yoon H, Nowak RP, Donovan KA, Li Z, Cai Q, Eleuteri NA,
            Zhang T, Gray NS and Fischer ES.
  TITLE     Structural complementarity facilitates E7820-mediated degradation
            of RBM39 by DCAF15
  JOURNAL   Nat Chem Biol 16 (1), 7-14 (2020)
   PUBMED   31686031
  REMARK    GeneRIF: aryl-sulfonamides neo-functionalize a shallow,
            non-conserved pocket on DCAF15 to selectively bind and degrade
            RBM39 and the closely related splicing factor RBM23 without the
            requirement for a high-affinity ligand
REFERENCE   3  (residues 1 to 405)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   4  (residues 1 to 405)
  AUTHORS   Varjosalo M, Keskitalo S, Van Drogen A, Nurkkala H, Vichalkovski A,
            Aebersold R and Gstaiger M.
  TITLE     The protein interaction landscape of the human CMGC kinase group
  JOURNAL   Cell Rep 3 (4), 1306-1320 (2013)
   PUBMED   23602568
REFERENCE   5  (residues 1 to 405)
  AUTHORS   Weimann M, Grossmann A, Woodsmith J, Ozkan Z, Birth P, Meierhofer
            D, Benlasfer N, Valovka T, Timmermann B, Wanker EE, Sauer S and
            Stelzl U.
  TITLE     A Y2H-seq approach defines the human protein methyltransferase
            interactome
  JOURNAL   Nat Methods 10 (4), 339-342 (2013)
   PUBMED   23455924
REFERENCE   6  (residues 1 to 405)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   7  (residues 1 to 405)
  AUTHORS   Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H,
            Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff
            S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksoz E, Droege A,
            Krobitsch S, Korn B, Birchmeier W, Lehrach H and Wanker EE.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
REFERENCE   8  (residues 1 to 405)
  AUTHORS   Dowhan DH, Hong EP, Auboeuf D, Dennis AP, Wilson MM, Berget SM and
            O'Malley BW.
  TITLE     Steroid hormone receptor coactivation and alternative RNA splicing
            by U2AF65-related proteins CAPERalpha and CAPERbeta
  JOURNAL   Mol Cell 17 (3), 429-439 (2005)
   PUBMED   15694343
REFERENCE   9  (residues 1 to 405)
  AUTHORS   Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X,
            Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X,
            Xu H, Guo M, Pan Z, Chen Y, Ge C, Yang S and Gu J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   10 (residues 1 to 405)
  AUTHORS   Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C,
            Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A,
            Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H,
            Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon
            O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere
            F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R,
            Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A,
            Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S,
            Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C,
            Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S,
            Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C,
            Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P,
            Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois
            M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V,
            Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J,
            Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F,
            Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F,
            Waterston R, Hood L and Weissenbach J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CK003276.1, AK001344.1,
            AL132780.5, BC106012.1 and AL135998.6.
            
            Summary: This gene encodes a member of the U2AF-like family of RNA
            binding proteins. This protein interacts with some steroid nuclear
            receptors, localizes to the promoter of a steroid- responsive gene,
            and increases transcription of steroid-responsive transcriptional
            reporters in a hormone-dependent manner. It is also implicated in
            the steroid receptor-dependent regulation of alternative splicing.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) lacks two alternate in-frame
            exons, compared to variant 1. The resulting protein (isoform 3) is
            shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.197961.1,
                                           SRR1803612.166501.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..405
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     Protein         1..405
                     /product="probable RNA-binding protein 23 isoform 3"
                     /note="RNA-binding region (RNP1, RRM) containing 4;
                     splicing factor SF2; probable RNA-binding protein 23;
                     RNA-binding region-containing protein 4; coactivator of
                     activating protein-1 and estrogen recep- tors beta; CAPER
                     beta"
                     /calculated_mol_wt=44364
     Region          79..404
                     /region_name="SF-CC1"
                     /note="splicing factor, CC1-like family; TIGR01622"
                     /db_xref="CDD:273721"
     CDS             1..405
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
                     /coded_by="NM_001077352.2:162..1379"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS41919.1"
                     /db_xref="GeneID:55147"
                     /db_xref="HGNC:HGNC:20155"
ORIGIN      
        1 masddfdivi eamleapykk eedeqqrkev kkdypsntts stsnsgnets gsstigetsn
       61 rsrdrdryrr rnsrsrspgr qcrhrsrswd rrhgsesrsr dhrredrvhy rspplatgep
      121 vdnlspeerd artvfcmqla arirprdled ffsavgkvrd vriisdrnsr rskgiayvef
      181 ceiqsvplai gltgqrllgv piivqasqae knrlaamann lqkgnggpmr lyvgslhfni
      241 tedmlrgife pfgkidnivl mkdsdtgrsk gygfitfsds ecarraleql ngfelagrpm
      301 rvghvterld ggtditfpdg dqeldlgsag grfqlmakla egagiqlpst aaaaaaaaaq
      361 aaalqlngav plgalnpaal talspalnla sqcfqlsslf tpqtm
//
LOCUS       NP_057305                460 aa            linear   PRI 19-MAR-2023
DEFINITION  dynactin subunit 4 isoform b [Homo sapiens].
ACCESSION   NP_057305
VERSION     NP_057305.1
DBSOURCE    REFSEQ: accession NM_016221.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 460)
  AUTHORS   Su X, Li H, Chen S and Qin C.
  TITLE     Study on the Prognostic Values of Dynactin Genes in Low-Grade
            Glioma
  JOURNAL   Technol Cancer Res Treat 20, 15330338211010143 (2021)
   PUBMED   33896271
  REMARK    GeneRIF: Study on the Prognostic Values of Dynactin Genes in
            Low-Grade Glioma.
REFERENCE   2  (residues 1 to 460)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 460)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 460)
  AUTHORS   Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y,
            van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ,
            Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ,
            Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B,
            Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM,
            Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E,
            Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ,
            Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U,
            Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB and
            Roepman R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 460)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (residues 1 to 460)
  AUTHORS   Ayalon G, Davis JQ, Scotland PB and Bennett V.
  TITLE     An ankyrin-based mechanism for functional organization of
            dystrophin and dystroglycan
  JOURNAL   Cell 135 (7), 1189-1200 (2008)
   PUBMED   19109891
REFERENCE   7  (residues 1 to 460)
  AUTHORS   Lim CM, Cater MA, Mercer JF and La Fontaine S.
  TITLE     Copper-dependent interaction of dynactin subunit p62 with the N
            terminus of ATP7B but not ATP7A
  JOURNAL   J Biol Chem 281 (20), 14006-14014 (2006)
   PUBMED   16554302
  REMARK    GeneRIF: ATP7B interaction with p62 is a key component of the
            copper-induced trafficking pathway that delivers ATP7B to subapical
            vesicles of hepatocytes for the removal of excess copper into bile
REFERENCE   8  (residues 1 to 460)
  AUTHORS   Boultwood J, Fidler C, Strickson AJ, Watkins F, Kostrzewa M, Jaju
            RJ, Muller U and Wainscoat JS.
  TITLE     Transcription mapping of the 5q- syndrome critical region: cloning
            of two novel genes and sequencing, expression, and mapping of a
            further six novel cDNAs
  JOURNAL   Genomics 66 (1), 26-34 (2000)
   PUBMED   10843801
REFERENCE   9  (residues 1 to 460)
  AUTHORS   Karki S, Tokito MK and Holzbaur EL.
  TITLE     A dynactin subunit with a highly conserved cysteine-rich motif
            interacts directly with Arp1
  JOURNAL   J Biol Chem 275 (7), 4834-4839 (2000)
   PUBMED   10671518
REFERENCE   10 (residues 1 to 460)
  AUTHORS   Bingham JB and Schroer TA.
  TITLE     Self-regulated polymerization of the actin-related protein Arp1
  JOURNAL   Curr Biol 9 (4), 223-226 (1999)
   PUBMED   10074429
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC321382.1, AK000299.1, AL162085.1 and AC008453.6.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (b) has the same
            N- and C-termini but is shorter compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC026323.1, AK000299.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000447998.7/ ENSP00000416968.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..460
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.1"
     Protein         1..460
                     /product="dynactin subunit 4 isoform b"
                     /note="dynactin p62 subunit; dynactin subunit p62;
                     dynactin 4 (p62)"
                     /calculated_mol_wt=52206
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (Q9UJW0.1)"
     Region          23..341
                     /region_name="Dynactin_p62"
                     /note="Dynactin p62 family; pfam05502"
                     /db_xref="CDD:428497"
     Site            196
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UJW0.1)"
     Site            407
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9QUR2; propagated from
                     UniProtKB/Swiss-Prot (Q9UJW0.1)"
     CDS             1..460
                     /gene="DCTN4"
                     /gene_synonym="DYN4; P62"
                     /coded_by="NM_016221.4:25..1407"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS4310.1"
                     /db_xref="GeneID:51164"
                     /db_xref="HGNC:HGNC:15518"
                     /db_xref="MIM:614758"
ORIGIN      
        1 masllqsdrv lylvqgekkv raplsqlyfc rycselrsle cvshevdshy cpsclenmps
       61 aeaklkknrc ancfdcpgcm htlstratsi stqlpddpak ttmkkayyla cgfcrwtsrd
      121 vgmadksvas ggwqepenph tqrmnkliey yqqlaqkekv erdrkklarr rnymplafsd
      181 kyglgtrlqr pragasistl aglslkeged qkeikiepaq avdeveplpe dyytrpvnlt
      241 evttlqqrll qpdfqpvcas qlyprhkhll ikrslrcrkc ehnlskpefn ptsikfkiql
      301 vavnyipevr imsipnlrym kesqvlltlt npvenlthvt lfeceegdpd dinstakvvv
      361 ppkelvlagk daaaeydela epqdfqddpd iiafrkankv gifikvtpqr eegevtvcfk
      421 mkhdfknlaa pirpieesdq gteviwltqh velslgpllp
//
LOCUS       NP_001025443             625 aa            linear   PRI 19-MAR-2023
DEFINITION  basic helix-loop-helix ARNT-like protein 1 isoform a [Homo
            sapiens].
ACCESSION   NP_001025443
VERSION     NP_001025443.1
DBSOURCE    REFSEQ: accession NM_001030272.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 625)
  AUTHORS   Ono M, Ando H, Daikoku T, Fujiwara T, Mieda M, Mizumoto Y, Iizuka
            T, Kagami K, Hosono T, Nomura S, Toyoda N, Sekizuka-Kagami N, Maida
            Y, Kuji N, Nishi H and Fujiwara H.
  TITLE     The Circadian Clock, Nutritional Signals and Reproduction: A Close
            Relationship
  JOURNAL   Int J Mol Sci 24 (2), 1545 (2023)
   PUBMED   36675058
  REMARK    GeneRIF: The Circadian Clock, Nutritional Signals and Reproduction:
            A Close Relationship.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 625)
  AUTHORS   Qu M, Zhang G, Qu H, Vu A, Wu R, Tsukamoto H, Jia Z, Huang W, Lenz
            HJ, Rich JN and Kay SA.
  TITLE     Circadian regulator BMAL1::CLOCK promotes cell proliferation in
            hepatocellular carcinoma by controlling apoptosis and cell cycle
  JOURNAL   Proc Natl Acad Sci U S A 120 (2), e2214829120 (2023)
   PUBMED   36595671
  REMARK    GeneRIF: Circadian regulator BMAL1::CLOCK promotes cell
            proliferation in hepatocellular carcinoma by controlling apoptosis
            and cell cycle.
REFERENCE   3  (residues 1 to 625)
  AUTHORS   Hu Y, Yin J and Yang G.
  TITLE     Melatonin upregulates BMAL1 to attenuate chronic sleep
            deprivation-related cognitive impairment by alleviating oxidative
            stress
  JOURNAL   Brain Behav 13 (1), e2836 (2023)
   PUBMED   36563187
  REMARK    GeneRIF: Melatonin upregulates BMAL1 to attenuate chronic sleep
            deprivation-related cognitive impairment by alleviating oxidative
            stress.
REFERENCE   4  (residues 1 to 625)
  AUTHORS   Tang L, Liu L, Sun X, Hu P, Zhang H, Wang B, Zhang X, Jiang J, Zhao
            X and Shi X.
  TITLE     BMAL1/FOXA2-induced rhythmic fluctuations in IL-6 contribute to
            nocturnal asthma attacks
  JOURNAL   Front Immunol 13, 947067 (2022)
   PUBMED   36505412
  REMARK    GeneRIF: BMAL1/FOXA2-induced rhythmic fluctuations in IL-6
            contribute to nocturnal asthma attacks.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 625)
  AUTHORS   Yang Y, Yang T, Zhao Z, Zhang H, Yuan P, Wang G, Zhao Z, An J, Lyu
            Z, Xing J and Li J.
  TITLE     Down-regulation of BMAL1 by MiR-494-3p Promotes Hepatocellular
            Carcinoma Growth and Metastasis by Increasing GPAM-mediated Lipid
            Biosynthesis
  JOURNAL   Int J Biol Sci 18 (16), 6129-6144 (2022)
   PUBMED   36439870
  REMARK    GeneRIF: Down-regulation of BMAL1 by MiR-494-3p Promotes
            Hepatocellular Carcinoma Growth and Metastasis by Increasing
            GPAM-mediated Lipid Biosynthesis.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 625)
  AUTHORS   Takahata S, Sogawa K, Kobayashi A, Ema M, Mimura J, Ozaki N and
            Fujii-Kuriyama Y.
  TITLE     Transcriptionally active heterodimer formation of an Arnt-like PAS
            protein, Arnt3, with HIF-1a, HLF, and clock
  JOURNAL   Biochem Biophys Res Commun 248 (3), 789-794 (1998)
   PUBMED   9704006
REFERENCE   7  (residues 1 to 625)
  AUTHORS   Gekakis N, Staknis D, Nguyen HB, Davis FC, Wilsbacher LD, King DP,
            Takahashi JS and Weitz CJ.
  TITLE     Role of the CLOCK protein in the mammalian circadian mechanism
  JOURNAL   Science 280 (5369), 1564-1569 (1998)
   PUBMED   9616112
REFERENCE   8  (residues 1 to 625)
  AUTHORS   Hogenesch JB, Gu YZ, Jain S and Bradfield CA.
  TITLE     The basic-helix-loop-helix-PAS orphan MOP3 forms transcriptionally
            active complexes with circadian and hypoxia factors
  JOURNAL   Proc Natl Acad Sci U S A 95 (10), 5474-5479 (1998)
   PUBMED   9576906
REFERENCE   9  (residues 1 to 625)
  AUTHORS   Ikeda M and Nomura M.
  TITLE     cDNA cloning and tissue-specific expression of a novel basic
            helix-loop-helix/PAS protein (BMAL1) and identification of
            alternatively spliced variants with alternative translation
            initiation site usage
  JOURNAL   Biochem Biophys Res Commun 233 (1), 258-264 (1997)
   PUBMED   9144434
REFERENCE   10 (residues 1 to 625)
  AUTHORS   Hogenesch JB, Chan WK, Jackiw VH, Brown RC, Gu YZ, Pray-Grant M,
            Perdew GH and Bradfield CA.
  TITLE     Characterization of a subset of the basic-helix-loop-helix-PAS
            superfamily that interacts with components of the dioxin signaling
            pathway
  JOURNAL   J Biol Chem 272 (13), 8581-8593 (1997)
   PUBMED   9079689
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BE391243.1, AK291510.1 and
            BC041129.1.
            
            Summary: The protein encoded by this gene is a basic
            helix-loop-helix protein that forms a heterodimer with CLOCK. This
            heterodimer binds E-box enhancer elements upstream of Period (PER1,
            PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates
            transcription of these genes. PER and CRY proteins heterodimerize
            and repress their own transcription by interacting in a feedback
            loop with CLOCK/ARNTL complexes. Defects in this gene have been
            linked to infertility, problems with gluconeogenesis and
            lipogenesis, and altered sleep patterns. The protein regulates
            interferon-stimulated gene expression and is an important factor in
            viral infection, including COVID-19. [provided by RefSeq, Oct
            2021].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and uses
            an alternate in-frame splice junction at the 5' end of an exon
            compared to variant 4. The resulting isoform (a) is 1 aa shorter
            compared to isoform c. Variants 1, 2, 10, and 11 all encode isoform
            a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.200095.1,
                                           SRR1803617.181183.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in immune response or antiviral
                                   activity
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..625
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.3"
     Protein         1..625
                     /product="basic helix-loop-helix ARNT-like protein 1
                     isoform a"
                     /note="aryl hydrocarbon receptor nuclear translocator-like
                     protein 1; member of PAS superfamily 3; basic
                     helix-loop-helix family member e5; PAS domain containing
                     3; ARNT-like protein 1, brain and muscle; aryl hydrocarbon
                     receptor nuclear translocator like; bHLH-PAS protein JAP3;
                     basic-helix-loop-helix-PAS orphan MOP3; member of PAS
                     protein 3; brain and muscle ARNT-like 1; PAS
                     domain-containing protein 3; testis tissue sperm-binding
                     protein Li 50e; basic-helix-loop-helix-PAS protein MOP3;
                     class E basic helix-loop-helix protein 5; basic
                     helix-loop-helix ARNT-like protein 1; mutant basic
                     helix-loop-helix ARNT-like protein 1"
                     /calculated_mol_wt=68560
     Region          1..60
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00327.2)"
     Site            17
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by GSK3-beta.
                     /evidence=ECO:0000250|UniProtKB:Q9WTL8; propagated from
                     UniProtKB/Swiss-Prot (O00327.2)"
     Site            21
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by GSK3-beta.
                     /evidence=ECO:0000250|UniProtKB:Q9WTL8; propagated from
                     UniProtKB/Swiss-Prot (O00327.2)"
     Region          36..41
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000250|UniProtKB:Q9WTL8"
                     /note="propagated from UniProtKB/Swiss-Prot (O00327.2)"
     Region          67..130
                     /region_name="bHLH-PAS_ARNTL_PASD3"
                     /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS)
                     domain found in aryl hydrocarbon receptor nuclear
                     translocator-like protein 1 (ARNTL) and similar proteins;
                     cd11438"
                     /db_xref="CDD:381444"
     Site            order(74,77..78,80..82,84..85,89,110..111)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381444"
     Site            77
                     /site_type="other"
                     /note="Interaction with E-box DNA.
                     /evidence=ECO:0000269|PubMed:23229515; propagated from
                     UniProtKB/Swiss-Prot (O00327.2)"
     Site            78
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:23229515; propagated from
                     UniProtKB/Swiss-Prot (O00327.2)"
     Site            80
                     /site_type="other"
                     /note="Interaction with E-box DNA.
                     /evidence=ECO:0000269|PubMed:23229515; propagated from
                     UniProtKB/Swiss-Prot (O00327.2)"
     Site            81
                     /site_type="other"
                     /note="Interaction with E-box DNA.
                     /evidence=ECO:0000269|PubMed:23229515; propagated from
                     UniProtKB/Swiss-Prot (O00327.2)"
     Site            85
                     /site_type="other"
                     /note="Interaction with E-box DNA.
                     /evidence=ECO:0000269|PubMed:23229515; propagated from
                     UniProtKB/Swiss-Prot (O00327.2)"
     Site            order(87..88,91,94..95,98,112,115..116,119,122..123,125)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:381444"
     Site            90
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000250|UniProtKB:Q9WTL8; propagated from
                     UniProtKB/Swiss-Prot (O00327.2)"
     Site            125
                     /site_type="other"
                     /note="Important for interaction with CLOCK.
                     /evidence=ECO:0000269|PubMed:23229515; propagated from
                     UniProtKB/Swiss-Prot (O00327.2)"
     Region          142..152
                     /region_name="Nuclear export signal 1.
                     /evidence=ECO:0000250|UniProtKB:Q9WTL8"
                     /note="propagated from UniProtKB/Swiss-Prot (O00327.2)"
     Region          149..208
                     /region_name="PAS"
                     /note="PAS domain; smart00091"
                     /db_xref="CDD:214512"
     Site            order(172,176,182,195..198,220,225)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238075"
     Site            order(192,196,204,207..208,230,232)
                     /site_type="other"
                     /note="heme pocket [chemical binding]"
                     /db_xref="CDD:238075"
     Region          338..440
                     /region_name="PAS_11"
                     /note="PAS domain; pfam14598"
                     /db_xref="CDD:434060"
     Region          360..368
                     /region_name="Nuclear export signal 2.
                     /evidence=ECO:0000250|UniProtKB:Q9WTL8"
                     /note="propagated from UniProtKB/Swiss-Prot (O00327.2)"
     Region          457..492
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00327.2)"
     Region          507..587
                     /region_name="Interaction with CIART.
                     /evidence=ECO:0000250|UniProtKB:Q9WTL8"
                     /note="propagated from UniProtKB/Swiss-Prot (O00327.2)"
     Region          510..594
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00327.2)"
     Site            537
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9WTL8; propagated from
                     UniProtKB/Swiss-Prot (O00327.2)"
     CDS             1..625
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /coded_by="NM_001030272.3:342..2219"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="GeneID:406"
                     /db_xref="HGNC:HGNC:701"
                     /db_xref="MIM:602550"
ORIGIN      
        1 madqrmdiss tisdfmspgp tdllssslgt sgvdcnrkrk gsstdyqesm dtdkddphgr
       61 leytehqgri knareahsqi ekrrrdkmns fidelaslvp tcnamsrkld kltvlrmavq
      121 hmktlrgatn pyteanykpt flsddelkhl ilraadgflf vvgcdrgkil fvsesvfkil
      181 nysqndligq slfdylhpkd iakvkeqlss sdtaprerli daktglpvkt ditpgpsrlc
      241 sgarrsffcr mkcnrpsvkv edkdfpstcs kkkdrksfct ihstgylksw pptkmglded
      301 nepdnegcnl sclvaigrlh shvvpqpvng eirvksmeyv srhaidgkfv fvdqratail
      361 aylpqellgt scyeyfhqdd ighlaechrq vlqtrekitt ncykfkikdg sfitlrsrwf
      421 sfmnpwtkev eyivstntvv lanvleggdp tfpqltasph smdsmlpsge ggpkrthptv
      481 pgipggtrag agkigrmiae eimeihrirg sspsscgssp lnitstpppd asspggkkil
      541 nggtpdipss gllsgqaqen pgypysdsss ilgenphigi dmidndqgss spsndeaama
      601 vimslleada glggpvdfsd lpwpl
//
LOCUS       XP_047305375             529 aa            linear   PRI 20-MAR-2023
DEFINITION  eyes absent homolog 3 isoform X8 [Homo sapiens].
ACCESSION   XP_047305375
VERSION     XP_047305375.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449419.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..529
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..529
                     /product="eyes absent homolog 3 isoform X8"
                     /calculated_mol_wt=57545
     Region          249..494
                     /region_name="HAD_Eya"
                     /note="protein tyrosine phosphatase domain of the nuclear
                     transcription factor of Eyes absent (Eya) and related
                     phosphatase domains; cd02601"
                     /db_xref="CDD:319789"
     Site            order(256..260,350..351,459,483..484,488..489)
                     /site_type="active"
                     /db_xref="CDD:319789"
     Site            256..260
                     /site_type="other"
                     /note="HAD signature motif I"
                     /db_xref="CDD:319789"
     CDS             1..529
                     /gene="EYA3"
                     /coded_by="XM_047449419.1:71..1660"
                     /db_xref="GeneID:2140"
                     /db_xref="HGNC:HGNC:3521"
                     /db_xref="MIM:601655"
ORIGIN      
        1 mtctdyiprs sndytsqmys akpyahilsv pvsetaypgq tqyqtlqqtq pyavypqatq
       61 tyglppfgal wpgmkpesgl iqtpspsqhs vltcttgltt sqpspahysy piqasstnas
      121 listsstian ipaaavasis nqdyptytil gqnqyqacyp sssfgvtgqt nsdaesttla
      181 attyqsekps vmapapaaqr lssgdpstsp slsqttpskd tddqsrknmt sknrgkrkad
      241 atssqdsele rvflwdldet iiifhslltg syaqkygkdp tvvigsgltm eemifevadt
      301 hlffndleec dqvhvedvas ddngqdlsny sfstdgfsgs ggsgshgssv gvqggvdwmr
      361 klafryrkvr eiydkhksnv ggllspqrke alqrlraeie vltdswlgta lksllliqsr
      421 kncvnvlitt tqlvpalakv llyglgeifp ieniysatki gkescferiv srfgkkvtyv
      481 vigdgrdeei aakqqlyfld mealgcqlep talilfiqls gnlsnynkl
//
LOCUS       XP_011540076             491 aa            linear   PRI 20-MAR-2023
DEFINITION  protein kinase C zeta type isoform X8 [Homo sapiens].
ACCESSION   XP_011540076
VERSION     XP_011540076.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011541774.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..491
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..491
                     /product="protein kinase C zeta type isoform X8"
                     /calculated_mol_wt=56702
     Region          25..79
                     /region_name="C1"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     superfamily; cl00040"
                     /db_xref="CDD:412127"
     Region          132..425
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(154..157,160,162,175,177,210,226..229,272,276..277,
                     279,289..290)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     CDS             1..491
                     /gene="PRKCZ"
                     /gene_synonym="PKC-ZETA; PKC2"
                     /coded_by="XM_011541774.2:184..1659"
                     /db_xref="GeneID:5590"
                     /db_xref="HGNC:HGNC:9412"
                     /db_xref="MIM:176982"
ORIGIN      
        1 mltprtdesi yrrgarrwrk lyranghlfq akrfnrrayc gqcseriwgl arqgyrcinc
       61 kllvhkrchg lvpltcrkhm dsvmpsqepp vddknedadl pseetdgiay isssrkhdsi
      121 kddsedlkpv idgmdgikis qglglqdfdl irvigrgsya kvllvrlkkn dqiyamkvvk
      181 kelvhddedi dwvqtekhvf eqassnpflv glhscfqtts rlflvieyvn ggdlmfhmqr
      241 qrklpeehar fyaaeicial nflhergiiy rdlkldnvll dadghikltd ygmckeglgp
      301 gdttstfcgt pnyiapeilr geeygfsvdw walgvlmfem magrspfdii tdnpdmnted
      361 ylfqvilekp iriprflsvk ashvlkgfln kdpkerlgcr pqtgfsdiks haffrsidwd
      421 lmhrqlrctd arttwtprrc grtddmdaqt mwmhgrrrht ddsstddsda rtprrrgrtd
      481 dadaqmtwth r
//
LOCUS       XP_047282507             852 aa            linear   PRI 20-MAR-2023
DEFINITION  von Willebrand factor C and EGF domain-containing protein isoform
            X6 [Homo sapiens].
ACCESSION   XP_047282507
VERSION     XP_047282507.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426551.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..852
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..852
                     /product="von Willebrand factor C and EGF
                     domain-containing protein isoform X6"
                     /calculated_mol_wt=88369
     Region          142..180
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(142,145,157)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Site            order(181,184,196)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          190..218
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          343..397
                     /region_name="VWC"
                     /note="von Willebrand factor type C domain; cl17735"
                     /db_xref="CDD:450195"
     Region          400..>445
                     /region_name="VWC"
                     /note="von Willebrand factor type C domain; cl17735"
                     /db_xref="CDD:450195"
     Region          458..516
                     /region_name="VWC"
                     /note="von Willebrand factor type C domain; cl17735"
                     /db_xref="CDD:450195"
     Region          529..581
                     /region_name="VWC"
                     /note="von Willebrand factor (vWF) type C domain;
                     smart00214"
                     /db_xref="CDD:214564"
     Region          584..639
                     /region_name="VWC"
                     /note="von Willebrand factor type C domain; cl17735"
                     /db_xref="CDD:450195"
     Region          <623..841
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..852
                     /gene="VWCE"
                     /gene_synonym="URG11; VWC1"
                     /coded_by="XM_047426551.1:280..2838"
                     /db_xref="GeneID:220001"
                     /db_xref="HGNC:HGNC:26487"
                     /db_xref="MIM:611115"
ORIGIN      
        1 mwaglllraa cvalllpgap argytgrkpp ghfaaerrrl gphvclsgfg sgccpgwaps
       61 mggghctlpl csfgcgsgic iapnvcscqd geqgatcpet hgpcgeygcd ltcnhggcqe
      121 varvcpvgfs mtetavgirc tdidecvtss ceghcvnteg gfvcecgpgm qlsadrhscq
      181 dtdeclgtpc qqrcknsigs ykcscrtgfh lhgnrhscva fpkavlapsa ilqprqhpsk
      241 mllllpeagr palspghspp sgapgppagv rttrlpsptp rlptsspsap vwllstllat
      301 pvptasllgn lrppsllqge vmgtpssprg pesprlaagp spcwhlgamh esrsrwtepg
      361 csqcwcedgk vtcekvrcea acshpipsrd ggccpsctgc fhsgvvraeg dvfsppnenc
      421 tvcvclagnv scispecpsg pcqtppqtdc ctcvpvrcyf hgrwyadgav fsgggdectt
      481 cvcqngevec sfmpcpelac preewrlgpg qccftcqept pstgcslddn gvefpigqiw
      541 spgdpcelci cqlgsvacsp vdcpitctyp fhpdgeccpv crdcnyegrk vangqvftld
      601 depctrctcq lgevscekvp cqracadpal lpgdccsscp dslspleekq glsphgnvaf
      661 skagrslhgd teapvncssc pgpptaspsr pvlhllqlll rtnlmktqtl ptspagahgp
      721 hslalgltat fpgepgaspr lspgpstppg aptlplaspg apqpppvtpe rsfsasgaqi
      781 vsrwpplpgt llteasalsm mdpspsktpi tllgprvlsp ttsrlstala atthpgpqqp
      841 pvgasrgees tm
//
LOCUS       XP_016874731             636 aa            linear   PRI 20-MAR-2023
DEFINITION  host cell factor 2 isoform X1 [Homo sapiens].
ACCESSION   XP_016874731
VERSION     XP_016874731.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019242.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..636
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..636
                     /product="host cell factor 2 isoform X1"
                     /calculated_mol_wt=70013
     Region          <2..262
                     /region_name="PLN02193"
                     /note="nitrile-specifier protein"
                     /db_xref="CDD:177844"
     Region          23..69
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          127..186
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          190..241
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          <232..>375
                     /region_name="PLN02193"
                     /note="nitrile-specifier protein"
                     /db_xref="CDD:177844"
     Region          245..312
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     CDS             1..636
                     /gene="HCFC2"
                     /gene_synonym="HCF-2; HCF2"
                     /coded_by="XM_017019242.3:31..1941"
                     /db_xref="GeneID:29915"
                     /db_xref="HGNC:HGNC:24972"
                     /db_xref="MIM:607926"
ORIGIN      
        1 maapsllnwr rvssftgpvp rarhghrava irelmiifgg gnegiadelh vyntatnqwf
       61 lpavrgdipp gcaahgfvcd gtrilvfggm veygrysnel yelqasrwlw kkvkphppps
      121 glppcprlgh sfslygnkcy lfgglanese dsnnnvpryl ndfyelelqh gsgvvgwsip
      181 vtkgvvpspr eshtaviyck kdsgspkmyv fggmcgarld dlwqldletm swskpetkgt
      241 vplprslhta svignkmyif ggwvphkgen tetsphdcew rctssfsyln ldttewttlv
      301 sdsqedkkns rprpraghca vaigtrlyfw sgrdgykkal nsqvcckdlw yldtekppap
      361 sqvqlikatt nsfhvkwdev stvegyllql stdlpyqaas sdssaapnmq gvrmdphrqg
      421 snnivpnsin dtinstkteq patketsmkn kpdfkaltds nailypslas nasnhnshvv
      481 dmlrknegph tsanvgvlss cldvrtvipe tsvsstvsst qtmvtqqtik tessstngav
      541 vkdetslttf stksevdety alpatkisrv ethatatpfs vwritgissa kitefllvvf
      601 gsrnepawne ffcicsfgas cnvtlkelhf lreslk
//
LOCUS       XP_047285520             365 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF34 isoform X1 [Homo sapiens].
ACCESSION   XP_047285520
VERSION     XP_047285520.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429564.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..365
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..365
                     /product="E3 ubiquitin-protein ligase RNF34 isoform X1"
                     /calculated_mol_wt=40863
     Region          52..98
                     /region_name="FYVE_CARP1"
                     /note="FYVE-like domain found in caspase regulator CARP1
                     and similar proteins; cd15769"
                     /db_xref="CDD:277308"
     Region          312..365
                     /region_name="RING-HC_CARP1"
                     /note="RING finger, HC subclass, found in caspases-8 and
                     -10-associated RING finger protein 1 (CARP1) and similar
                     proteins; cd16706"
                     /db_xref="CDD:438366"
     CDS             1..365
                     /gene="RNF34"
                     /gene_synonym="CARP-1; CARP1; hRFI; RFI; RIF; RIFF"
                     /coded_by="XM_047429564.1:505..1602"
                     /db_xref="GeneID:80196"
                     /db_xref="HGNC:HGNC:17297"
                     /db_xref="MIM:608299"
ORIGIN      
        1 mwasccglln evmgtgavrg qqsafagatg pfrftpnpef styppaateg pnivckacgl
       61 sfsvfrkkhv ccdckkdfcs vcsvlqenlr rcstchllqe tafqrpqlmr lkvkdlrqyl
      121 ilrnipidtc rekedlvdlv lchhglgsed dmdtsslnss rsqtssfftr sffsnytaps
      181 atmssfqgel mdgdqtsrsg vpaqvqseit santeddddd ddeddddeee naedrnpgls
      241 kervraslsd lsslddvegm svrqlkeila rnfvnysgcc ekwelvekvn rlykeneenq
      301 ksygerlqlq deeddslcri cmdavidcvl lecghmvtct kcgkrmsecp icrqyvvrav
      361 hvfks
//
LOCUS       XP_016877454             355 aa            linear   PRI 20-MAR-2023
DEFINITION  adenosine deaminase-like protein isoform X1 [Homo sapiens].
ACCESSION   XP_016877454
VERSION     XP_016877454.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017021965.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..355
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..355
                     /product="adenosine deaminase-like protein isoform X1"
                     /calculated_mol_wt=40133
     Region          18..345
                     /region_name="ADA_AMPD"
                     /note="Adenosine/AMP deaminase. Adenosine deaminases
                     (ADAs) are present in pro- and eukaryotic organisms and
                     catalyze the zinc dependent irreversible deamination of
                     adenosine nucleosides to inosine nucleosides and ammonia.
                     The eukaryotic AMP deaminase...; cd00443"
                     /db_xref="CDD:238250"
     Site            order(24,26,208,211,232,293..294)
                     /site_type="active"
                     /db_xref="CDD:238250"
     CDS             1..355
                     /gene="ADAL"
                     /gene_synonym="HsMAPDA"
                     /coded_by="XM_017021965.2:606..1673"
                     /db_xref="GeneID:161823"
                     /db_xref="HGNC:HGNC:31853"
                     /db_xref="MIM:619346"
ORIGIN      
        1 mieaeeqqpc ktdfyselpk velhahlngs isshtmkkli aqkpdlkihd qmtvidkgkk
       61 rtleecfqmf qtihqltssp edilmvtkdv ikefaddgvk ylelrstprr enatgmtkkt
      121 yvesilegik qskqenldid vryliavdrr ggplvaketv klaeefflst egtvlgldls
      181 gdptvgqakd fleplleakk aglklalhls eipnqkketq illdllpdri ghgtflnsge
      241 ggsldlvdfv rqhriplelc ltsnvksqtv psydqhhfgf wysiahpsvi ctddkgvfat
      301 hlsqeyqlaa etfnltqsqv wdlsyesiny ifasdstrse lrkkwnhlkp rvlhi
//
LOCUS       XP_016879208            2898 aa            linear   PRI 20-MAR-2023
DEFINITION  chromodomain-helicase-DNA-binding protein 9 isoform X1 [Homo
            sapiens].
ACCESSION   XP_016879208
VERSION     XP_016879208.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017023719.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2898
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..2898
                     /product="chromodomain-helicase-DNA-binding protein 9
                     isoform X1"
                     /calculated_mol_wt=325963
     Region          161..558
                     /region_name="GAT1"
                     /note="GATA Zn-finger-containing transcription factor
                     [Transcription]; COG5641"
                     /db_xref="CDD:227928"
     Region          176..>362
                     /region_name="ROM1"
                     /note="RhoGEF, Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases [Signal transduction
                     mechanisms]; COG5422"
                     /db_xref="CDD:227709"
     Region          686..750
                     /region_name="CD1_tandem_CHD5-9_like"
                     /note="repeat 1 of the paired tandem chromodomains of
                     chromodomain helicase DNA-binding protein 5-9, and similar
                     proteins; cd18668"
                     /db_xref="CDD:349315"
     Site            order(690,720,722..723,727)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:349315"
     Region          770..828
                     /region_name="CD2_tandem_CHD5-9_like"
                     /note="repeat 2 of the paired tandem chromodomains of
                     chromodomain helicase DNA-binding protein 5-9, and similar
                     proteins; cd18663"
                     /db_xref="CDD:349310"
     Site            order(795,812)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:349310"
     Region          811..>1480
                     /region_name="PLN03142"
                     /note="Probable chromatin-remodeling complex ATPase chain;
                     Provisional"
                     /db_xref="CDD:215601"
     Region          2483..2532
                     /region_name="BRK"
                     /note="domain in transcription and CHROMO domain
                     helicases; smart00592"
                     /db_xref="CDD:197800"
     Region          2557..2601
                     /region_name="BRK"
                     /note="domain in transcription and CHROMO domain
                     helicases; smart00592"
                     /db_xref="CDD:197800"
     CDS             1..2898
                     /gene="CHD9"
                     /gene_synonym="AD013; CHD-9; CReMM; KISH2; PRIC320"
                     /coded_by="XM_017023719.2:445..9141"
                     /db_xref="GeneID:80205"
                     /db_xref="HGNC:HGNC:25701"
                     /db_xref="MIM:616936"
ORIGIN      
        1 mtdpmmdffd danlfgetle glsddafvqp gpvslvdeln lgaefeplhi dslnhvqgtp
       61 thqkmtdfeq lnqfdsikfh hvnqsfgspa ehvlsphsqf ncspihpqnq pnglfpdvsd
      121 gspmwghqta ttisnqngsp fhqqghshsm hqnksfvahh dfalfqaneq qtqctslrsq
      181 qnrnnlnpgq nslsqsknfm nvsgphrvnv nhppqmtnas nsqqsismqq fsqtsnpsah
      241 fhkcsshqeg nfngpspnmt scsvsnsqqf sshysfssnh ispnsllqss avlasnhtnq
      301 tlsdftgsns fsphrgikqe stqhilnpnt slnsnnfqil hsshpqgnys nsklspvhmn
      361 fpdpvdsgtq mghfndhvet ngfssleenl lhqvesqtep ftgldpedll qegllphfde
      421 stfgqdnssh ildhdldrqf tshlvtrpsd maqtqlqsqa rswhssfsnh qhlhdrnhlc
      481 lqrqppsskk sdgsgtytkl qntqvrvmse kkqrkkvese skqekanrii seaiakaker
      541 gerniprvms penfptasve gkeekkgrrm kskpkdkdsk ktktcsklke ktkigkliit
      601 lgkkqkrkne ssdeisdaeq mpqhtlkdqd sqkrrsnrqi krkkyaedie gkqseeevkg
      661 smkikknsap lpgeqplqlf venpseedaa ivdkilssrt vkkeispgvm idteeffvky
      721 knysylhcew ateeqllkdk riqqkikrfk lrqaqrahff admeeepfnp dyvevdrvle
      781 vsfcedkdtg epviyylvkw cslpyedstw elkedvdlak ieefeqlqas rpdtrrldrp
      841 psniwkkidq srdykngnql reyqleglnw llfnwynrrn cilademglg ktiqsitfly
      901 eilltgirgp fliiaplsti anwerefrtw tdinvvvyhg slisrqmiqq yemyfrdsqg
      961 riirgayrfq aiittfemil ggcgelnaie wrcviideah rlknknckll eglklmnleh
     1021 kvlltgtplq ntveelfsll hfleplrfps estfmqefgd lkteeqvqkl qailkpmmlr
     1081 rlkedvekkl apkeetiiev eltniqkkyy raileknfsf lskgagqtnv pnlvntmmel
     1141 rkccnhpyli kgaeekilge frdtynpaas dfhlqamiqs agklvlidkl lpkmkagghk
     1201 vlifsqmvrc ldiledylih krylyeridg rvrgnlrqaa idrfskpdsd rfvfllctra
     1261 gglginltaa dtciifdsdw npqndlqaqa rchrigqnka vkvyrlvtrn syeremfdra
     1321 slklgldkav lqsmsgresn vggiqqlskk eiedllrrga ygaimeeede gskfceedid
     1381 qillrrtkti tiesegrgst fakasfvasg nrtdislddp nfwqkwakka eidieaisgr
     1441 nslvidtpri rkqtrpfsat kdelaelsea esegdekpkl rrpcdrsngy grtecfrvek
     1501 nllvygwgrw reilshgrfk rqlnehdvei icrallaycl vhyrgdekik gfiwdlitpt
     1561 edgqtrelqn hlglsapvpr grkgkkvktq tssfdiqkae wlrkynpeql lqdegykkhi
     1621 khhcnkvllr vrmlyylkqe vignecqkvf dgvdasdidv wvpepdhsev paewwdfdad
     1681 kslligvfkh gyekyntira dpalcflerv gkpdekavaa eqrandymdg dvedpeykpa
     1741 paifkddied dvsspgdlvi adgdgqlmeg dkvywptqsa lttrlrrlit ayqrtnknrq
     1801 iqqiqptfsv ptsvmqpiye eatlnpkmaa kierqqrwtr reeadfyrvv stfgvvfdpd
     1861 rgqfdwtkfr amarlhkktd dslekylyaf msmcrrvcrl pskeelvdpn ifiqpiteer
     1921 asrtlyriel lrkvreqalr hpqlferlkl chpnpdlpvw wecgphdrdl ligaakhgvs
     1981 rtdyhilrdp elsfmaaqrn ysqskmahsr tstpllqqyq valsasplts lprlldakgi
     2041 ileemkvkse nlkeepqsse eesmssvetr tliksepvsp kngvlpqatg dqksggkcet
     2101 drrmvaarte pltpnpaskk prvhkrgses ssdsdsdser sscssrssss ssssscshsr
     2161 sgssssssss cssassssss stssssssss ssseesdsde eeaqkraest thmkaydees
     2221 vaslsttqde tqdsfqmnng tpesayilqg gymlaasywp kdrvminrld sicqtvlkgk
     2281 wpsarrsyda ntvasfyttk lldspgaate ysdpsvptpp gagvkeehdq stqmskvkkh
     2341 vrekeftvki kdegglkltf qkqglaqkrp fdgedgalgq qqyltrlrel qsasetslvn
     2401 fpksipvsgt siqptlgang vildnqpivk krrgrrknve gvdifffnrn kppnhvslgl
     2461 tssqistgin palsytqpqg ipdtespvpv inlkdgtrla gddapkrkdl ekwlkehpgy
     2521 vedlgafipr mqlhegrpkq krhrcrnpnk ldvnsltgee rvqlinrrna rkvggafapp
     2581 lkdlcrflke nseygvapew gdvvkqsgfl pesmyerilt gpvvreevsr rgrrpksgia
     2641 kataaaaaas atsvsgnpll angllpgvdl ttlqalqqnl qnlqslqvta glmgmptglp
     2701 sggeaknmaa mfpmllsgma glpnllgmgg lltkptesgt edkkgsdske segktertes
     2761 qssenggens vssspstsst aalntaaaan plalnpllls nilypgmllt pglnlhiptl
     2821 sqsntfdvqn knsdlgssks vevkeedsri kdqedkggte psplnenstd egsekadass
     2881 gsdstsssse dsdssned
//
LOCUS       XP_047291743             268 aa            linear   PRI 20-MAR-2023
DEFINITION  hexosaminidase D isoform X6 [Homo sapiens].
ACCESSION   XP_047291743
VERSION     XP_047291743.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435787.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..268
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..268
                     /product="hexosaminidase D isoform X6"
                     /calculated_mol_wt=27907
     CDS             1..268
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /coded_by="XM_047435787.1:36..842"
                     /db_xref="GeneID:284004"
                     /db_xref="HGNC:HGNC:26307"
                     /db_xref="MIM:616864"
ORIGIN      
        1 maetrgerdp qarrprdgda aggfdedvka kvenllgiss lektdpvreg agsfpgsnil
       61 alvtqvslhl rssvdalleg nsrptaalva rgtplcgfap gmslagsapt tasgssstrs
      121 wfstsspqrs aswhsgapsc rswrlpcswl strmpwrsgw rktctpacsg cklccrtsar
      181 clpprchppa lagtllrtpe graharglll eaggalhcqm awairahvgv vpsgpavscp
      241 hsvpegpgqp lgerlenteg sstgrpal
//
LOCUS       XP_016858777            1112 aa            linear   PRI 20-MAR-2023
DEFINITION  partitioning defective 3 homolog B isoform X7 [Homo sapiens].
ACCESSION   XP_016858777
VERSION     XP_016858777.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017003288.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1112
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1112
                     /product="partitioning defective 3 homolog B isoform X7"
                     /calculated_mol_wt=122055
     Region          <44..91
                     /region_name="DUF3534"
                     /note="N-terminal of Par3 and HAL proteins; pfam12053"
                     /db_xref="CDD:432291"
     Region          208..298
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Region          395..475
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(400..403,405,457..458,461..462)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          509..597
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(516..519,521,574..575,578..579)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     CDS             1..1112
                     /gene="PARD3B"
                     /gene_synonym="ALS2CR19; PAR3B; PAR3beta; PAR3L"
                     /coded_by="XM_017003288.2:5257..8595"
                     /db_xref="GeneID:117583"
                     /db_xref="HGNC:HGNC:14446"
                     /db_xref="MIM:619353"
ORIGIN      
        1 msgpevefds tfpedwtskl tlkvsedmff syvislicnp fhskyisegp gywvkihhle
       61 ytdggildpd dvladvvedk dkliavfeeq eplhkiesps gnpadrqspd afetevaaql
      121 aafkpiggei evtpsalklg tpllvrrssd pvpgppadtq psashpggqs lklvvpdstq
      181 nledrevlng vqtelltspr tkdtlsdmtr tveisgeggp lgihvvpffs slsgrilglf
      241 irgiednsrs kreglfhene civkinnvdl vdktfaqaqd vfrqamksps vllhvlppqn
      301 reqyeksvig slnifgnndg vlktkvpppv hgksglktan ltgtdspetd asaslqqnks
      361 prvprlggkp sspslsplmg fgsnknakki kidlkkgpeg lgftvvtrds sihgpgpifv
      421 knilpkgaai kdgrlqsgdr ilevngrdvt grtqeelvam lrstkqgeta slviarqegh
      481 flprelkgep dccalslets eqltfeipln dsgsaglgvs lkgnksretg tdlgifiksi
      541 ihggaafkdg rlrmndqlia vngesllgks nheametlrr smsmegnirg miqlvilrrp
      601 erpmedpaec gafskpcfen cqnavttsrr ndnsilhplg tcspqdkqkg lllpndgwae
      661 sevppsptph salglgledy shssgvdsav yfpdqhinfr svtparqpes inlkasksmd
      721 lvpdeskvhs lagqksesps kdfgptlglk ksssleslqt avaevrkndl pfhrprphmv
      781 rgrgcnesfr aaidksydgp eeieadglsd ksshsgqgal ncesapqgns eledmenkar
      841 kvkktkekek kkekgklkvk ekkrkeened perkikkkgf gamlrfgkkk edkggkaeqk
      901 gtlkhgglre eelekmkeer esgrptggst driqklrkey yqarregfpl yeddegrarp
      961 seydllwvpg rgpdgnahnl rfegmerqya slprggpadp vdylpaaprg lykerelpyy
     1021 pgahpmhppk gsyprptelr vadlrypqhy ppppapqhkg pfrqdvppsp pqhqrmpayq
     1081 etgrpgprgg spdqypyrtq dsrqknpmta av
//
LOCUS       XP_047300271            1716 aa            linear   PRI 20-MAR-2023
DEFINITION  echinoderm microtubule-associated protein-like 6 isoform X6 [Homo
            sapiens].
ACCESSION   XP_047300271
VERSION     XP_047300271.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444315.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1716
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1716
                     /product="echinoderm microtubule-associated protein-like 6
                     isoform X6"
                     /calculated_mol_wt=190897
     Region          8..224
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          45..80
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          86..120
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          128..162
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          169..204
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          212..238
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          279..584
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          279..318
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Site            order(293,297,303..304,319..320,338,343,349..350,376..377,
                     400,406..407,420,462,471..472,483..484,502,508,514..515,
                     527,529,546,551,559..560,572..573)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          <426..473
                     /region_name="HELP"
                     /note="HELP motif; pfam03451"
                     /db_xref="CDD:427302"
     Region          445..474
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          483..784
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(484,502,508,514..515,527,529,547,551,559..560,
                     572..573,592,597,601..602,614,637,642,648,659..660,676,
                     680,686..687,699..700,730,735,741..742,753..754,773,777,
                     783..784)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          488..526
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          534..571
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          577..622
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          625..659
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          653..979
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(660,676,680,686..687,696..697,715,731..732,753..754,
                     772,777,783..784,797,814,819,825..826,838..839,858,862,
                     868..869,881..882,902,925,930..931,943,948,968,972,
                     978..979)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          664..703
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          711..752
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          759..799
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          802..838
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          843..880
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          887..946
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          954..993
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          999..1026
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <1108..1159
                     /region_name="HELP"
                     /note="HELP motif; pfam03451"
                     /db_xref="CDD:427302"
     Region          1159..1588
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          1175..1218
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1224..1262
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1267..1309
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1317..1349
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1356..1399
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1448..1486
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1490..1526
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1531..1567
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1577..1627
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1643..1680
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1679..1713
                     /region_name="WD40"
                     /note="WD domain, G-beta repeat; pfam00400"
                     /db_xref="CDD:425662"
     CDS             1..1716
                     /gene="EML6"
                     /coded_by="XM_047444315.1:768..5918"
                     /db_xref="GeneID:400954"
                     /db_xref="HGNC:HGNC:35412"
ORIGIN      
        1 myaceegfat ggrdgcirlw dtdfkpitki dlreteqgyk glsirsvcwk adrllagtqd
       61 seifevivre rdkpmlilqg hcegelwala lhpkkplavt gsddrsvrlw sladhaliar
      121 cnmeeavrsv afspdgsqla lgmkdgsfiv lrvrdmtevv hikdrkevih emkfspdgsy
      181 lavgsndgpv dvyavaqryk kigecsksls fithidwsld skylqtndga gerlfyrmps
      241 gkpltskeei kgipwaswtc vkgpevsgiw pkytevtdin svdanynssv lvsgddfglv
      301 klfkfpclkr gakfrkyvgh sahvtnvrws hdfqwvlstg gadhsvfqwr fipegvsngm
      361 letapqegga dsyseesdsd lsdvpeldsd ieqeaqinyd rqvykedlpq lkqqskeknh
      421 avpflkreka pedslklqfi hgyrgydcrn nlfytqagev vyhiaavavv ynrqqhsqrl
      481 ylghdddils ltihpvkdyv atgqvgrdaa ihvwdtqtlk clsllkgqhq rgvcaldfsa
      541 dgkclvsvgl ddfhsivfwd wkkgekiatt rghkdkifvv kcnphhvdkl vtvgikhikf
      601 wqqagggfts krgtfgsvgk letmmcvsyg rmedlvfsga atgdifiwkd illlktvkah
      661 dgpvfamyal dkgfvtggkd givelwddmf erclktyaik rsalstsskg lllednpsir
      721 aitlghghil vgtkngeile idksgpmtll vqghmegevw glaahpllpi catvsddktl
      781 riwelsaqhr mlavrklkkg grccafspdg kalavglndg sflvvnadtv edmvsfhhrk
      841 emisdikfsk dtgkylavas hdnfvdiynv ltskrvgick gassyithid wdsrgkllqv
      901 nsgareqlff eaprgkrhii rpseiekiew dtwtcvlgpt cegiwpahsd itdvnaaslt
      961 kdcsllatgd dfgfvklfsy pvkgqharfk kyvghsahvt nvrwlhndsv lltvggadta
     1021 lmiwtrefvg tqesklvdse esdtdveedg gydsdvarek aidyttkiya vsiremegtk
     1081 phqqlkevsv eerppvsraa pqpeklqknn itkkkklvee laldhvfgyr gfdcrnnlhy
     1141 lndgadiifh taaagivqnl stgsqsfyle htddilcltv nqhpkyrnvv atsqigttps
     1201 ihiwdamtkh tlsmlrcfhs kgvnyinfsa tgkllvsvgv dpehtitvwr wqegakvasr
     1261 gghlerifvv efrpdsdtqf vsvgvkhmkf wtlagsally kkgvigslga akmqtmlsva
     1321 fgannltftg aingdvyvwk dhflirlvak ahtgpvftmy ttlrdglivt ggkerptkeg
     1381 gavklwdqem krcrafqlet gqlvecvrsv crgkgkilvg tkdgeiievg eknaasnili
     1441 dghmegeiwg lathpskdlf isasndgtar iwdladkkll nkvslghaar caayspdgem
     1501 vaigmkngef villvnslkv wgkkrdrksa iqdirispdn rflavgsseh tvdfydltqg
     1561 tnlnrigyck dipsfviqmd fsadgkyiqv stgaykrqvh evplgkqvte avviekitwa
     1621 swtsvlgdev igiwprnadk advncacvth aglnivtgdd fglvklfdfp ctekfakhkr
     1681 yfghsahvtn irfsyddkyv vstggddcsv fvwrcl
//
LOCUS       XP_047300810             227 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase FANCL isoform X7 [Homo sapiens].
ACCESSION   XP_047300810
VERSION     XP_047300810.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444854.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..227
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..227
                     /product="E3 ubiquitin-protein ligase FANCL isoform X7"
                     /calculated_mol_wt=25606
     Region          5..>33
                     /region_name="WD-3"
                     /note="WD-repeat region; pfam09765"
                     /db_xref="CDD:430808"
     Region          52..147
                     /region_name="FANCL_d3"
                     /note="FANCL UBC-like domain 3; pfam18891"
                     /db_xref="CDD:436811"
     Region          155..223
                     /region_name="FANCL_C"
                     /note="FANCL C-terminal domain; pfam11793"
                     /db_xref="CDD:432077"
     Site            order(160..164,167..168,188..189,192..193,212..213,215)
                     /site_type="other"
                     /note="E2 binding site [polypeptide binding]"
                     /db_xref="CDD:438153"
     CDS             1..227
                     /gene="FANCL"
                     /gene_synonym="FAAP43; PHF9; POG"
                     /coded_by="XM_047444854.1:68..751"
                     /db_xref="GeneID:55120"
                     /db_xref="HGNC:HGNC:20748"
                     /db_xref="MIM:608111"
ORIGIN      
        1 mavteasllr qcplllpqnr sktvyegfis aqsslisiys qflaaieslk afwdvmdeid
       61 ektwvlepek pprsatarri algnnvsini evdprhptml pecfflgadh vvkplgikls
      121 rnihlwdpen svlqnlkdvl eidfparail eksdftmdcg icyayqldgt ipdqvcdnsq
      181 cgqpfhqicl yewlrgllts rqsfniifge cpycskpitl kmsgrkh
//
LOCUS       XP_047300860             541 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-coenzyme A oxidase-like protein isoform X8 [Homo sapiens].
ACCESSION   XP_047300860
VERSION     XP_047300860.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444904.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..541
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..541
                     /product="acyl-coenzyme A oxidase-like protein isoform X8"
                     /calculated_mol_wt=60867
     Region          2..506
                     /region_name="ACAD"
                     /note="Acyl-CoA dehydrogenase; cl09933"
                     /db_xref="CDD:447864"
     CDS             1..541
                     /gene="ACOXL"
                     /gene_synonym="ACOX4"
                     /coded_by="XM_047444904.1:92..1717"
                     /db_xref="GeneID:55289"
                     /db_xref="HGNC:HGNC:25621"
ORIGIN      
        1 mraltvqrvk famdlpllkr agqdlaektk nfvsrslvig evlsmadmat gvkcgiiywl
       61 fggairnlgs pehvtkwfqp lqeqkytgmf amterghgsn argiqteatf dlsaqefvid
      121 tpcenaekmy ignamygnya avfaqliidg rsqgphcfiv pvrdengsly pgvtaidmmy
      181 keglhgvdng ilifdkvrip renlldkfgs vapdgqyhsp irnksarfna mlaaltpsrl
      241 avafqamgam klgltiairy shryagalld edvfqgkelv nsrslqalva glkaystwen
      301 irclqdcrec tggmvvgrel laqytkqyee kplfgllqnw aesvgdklrt sflafnmdtv
      361 ddlafllkav kfrervlqrg lvariyykvk tkkedffhaw nsclhhvasl slahthrvtl
      421 eqfslavksc pdqedqtllm kfcllygtkl vfqerawyle hkyltpmast rirnqlldlc
      481 dsvkddarrv istfniphty lhapiagisn praawafypa plqprpreea rsrrpklgak
      541 l
//
LOCUS       XP_016860159             440 aa            linear   PRI 20-MAR-2023
DEFINITION  secretin receptor isoform X4 [Homo sapiens].
ACCESSION   XP_016860159
VERSION     XP_016860159.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004670.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_016860159.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..440
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..440
                     /product="secretin receptor isoform X4"
                     /calculated_mol_wt=49806
     Region          54..116
                     /region_name="HRM"
                     /note="Hormone receptor domain; pfam02793"
                     /db_xref="CDD:397086"
     Region          129..390
                     /region_name="7tmB1_secretin"
                     /note="secretin receptor, member of the class B family of
                     seven-transmembrane G protein-coupled receptors; cd15275"
                     /db_xref="CDD:320403"
     Region          131..156
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320403"
     Site            order(136,140,182,185..186,189,206,213,289..290,292,294,
                     350,353,365,369)
                     /site_type="other"
                     /note="putative polypeptide ligand binding pocket
                     [polypeptide binding]"
                     /db_xref="CDD:320403"
     Region          165..187
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320403"
     Region          206..233
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320403"
     Region          245..265
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320403"
     Region          286..315
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320403"
     Region          331..358
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320403"
     Region          362..387
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320403"
     CDS             1..440
                     /gene="SCTR"
                     /gene_synonym="SR"
                     /coded_by="XM_017004670.2:714..2036"
                     /db_xref="GeneID:6344"
                     /db_xref="HGNC:HGNC:10608"
                     /db_xref="MIM:182098"
ORIGIN      
        1 mlefpetmgf sknqtgalpr lcdvlqvlwe eqdqclqels reqtgdlgte qpvpgcegmw
       61 dniscwpssv pgrmvevecp rflrmltsrn gslfrnctqd gwsetfprpn lacgvnvnds
      121 snekrhsyll klkvmytvgy ssslvmllva lgilcafrrl hctrnyihmh lfvsfilral
      181 snfikdavlf ssddvtycda hragcklvmv lfqycimany swllveglyl htllaisffs
      241 erkylqgfva fgwgspaifv alwaiarhfl edvgcpslrc wdinanasiw wiirgpvils
      301 ilinfilfin ilrilmrklr tqetrgnevs hykrlarstl lliplfgihy ivfafspeda
      361 meiqlffela lgsfqglvva vlycflngev sslgsprypg ellaigfrvr rsylggvvgr
      421 gmervrgspg sggrwlgqff
//
LOCUS       XP_047302288             669 aa            linear   PRI 20-MAR-2023
DEFINITION  calpain-13 isoform X1 [Homo sapiens].
ACCESSION   XP_047302288
VERSION     XP_047302288.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446332.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..669
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..669
                     /product="calpain-13 isoform X1"
                     /calculated_mol_wt=76566
     Region          35..331
                     /region_name="Peptidase_C2"
                     /note="Calpain family cysteine protease; pfam00648"
                     /db_xref="CDD:425798"
     Site            order(93,249,273)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:238004"
     Region          347..474
                     /region_name="Calpain_III"
                     /note="Calpain, subdomain III. Calpains are
                     calcium-activated cytoplasmic cysteine proteinases,
                     participate in cytoskeletal remodeling processes, cell
                     differentiation, apoptosis and signal transduction.
                     Catalytic domain and the two calmodulin-like domains
                     are...; cl00165"
                     /db_xref="CDD:444722"
     Site            order(376..378,385)
                     /site_type="other"
                     /note="acidic loop"
                     /db_xref="CDD:238132"
     Region          501..669
                     /region_name="EFh_PEF_CAPN13_14"
                     /note="Penta-EF hand, calcium binding motifs, found in
                     calpain-13 (CAPN13), calpain-14 (CAPN14), and similar
                     proteins; cd16195"
                     /db_xref="CDD:320070"
     Region          501..529
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320070"
     Region          542..571
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320070"
     Site            order(551,555,562)
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:320070"
     Region          572..605
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320070"
     Region          611..639
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320070"
     Region          641..669
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320070"
     CDS             1..669
                     /gene="CAPN13"
                     /coded_by="XM_047446332.1:178..2187"
                     /db_xref="GeneID:92291"
                     /db_xref="HGNC:HGNC:16663"
                     /db_xref="MIM:610228"
ORIGIN      
        1 mayyqepsve tsiikfkdqd fttlrdhcls mgrtfkdetf paadssigqk llqekrlsnv
       61 iwkrpqdlpg gpphfilddi srfdiqqgga adcwflaalg sltqnpqyrq kilmvqsfsh
      121 qyagifrfrf wqcgqwvevv iddrlpvqgd kclfvrprhq nqefwpclle kayakllgsy
      181 sdlhygfled alvdltggvi tnihlhsspv dlvkavktat kagslitcat psgptdtaqa
      241 menglvslha ytvtgaeqiq yrrgweeiis lwnpwgwgea ewrgrwsdgs qeweetcdpr
      301 ksqlhkkred gefwmscqdf qqkfiamfic seipitldhg ntlhegwsqi mfrkqvilgn
      361 taggprndaq fnfsvqepme gtnvvvcvtv avtpsnlkae dakfpldfqv ilagsqrfre
      421 kfppvffssf rntvqssnnk frrnftmtyh lspgnyvvva qtrrksaefl lriflkmpds
      481 drhlsshfnl rmkgspsehg sqqsifnrya qqrldidatq lqgllnqell tgppgdmfsl
      541 decrslvalm elkvngrldq eefarlwkrl vhyqhvfqkv qtspgvllss dlwkaientd
      601 flrgifisre llhlvtlrys dsvgrvsfps lvcflmrlea maktfrnlsk dgkglyltem
      661 ewmslvmyn
//
LOCUS       XP_047302389             356 aa            linear   PRI 20-MAR-2023
DEFINITION  carbohydrate sulfotransferase 10 isoform X1 [Homo sapiens].
ACCESSION   XP_047302389
VERSION     XP_047302389.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446433.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..356
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..356
                     /product="carbohydrate sulfotransferase 10 isoform X1"
                     /calculated_mol_wt=42076
     Region          116..349
                     /region_name="Sulfotransfer_2"
                     /note="Sulfotransferase family; pfam03567"
                     /db_xref="CDD:427369"
     CDS             1..356
                     /gene="CHST10"
                     /gene_synonym="HNK-1ST; HNK1ST"
                     /coded_by="XM_047446433.1:423..1493"
                     /db_xref="GeneID:9486"
                     /db_xref="HGNC:HGNC:19650"
                     /db_xref="MIM:606376"
ORIGIN      
        1 mhhqwlllaa cfwvifmfmv askfitltfk dpdvysakqe flflttmpev rklpeekhip
       61 eelkptgkel pdsqlvqplv ymerlelirn vcrddalknl shtpvskfvl drifvcdkhk
      121 ilfcqtpkvg ntqwkkvliv lngafssiee ipenvvhdhe knglprlssf sdaeiqkrlk
      181 tyfkffivrd pferlisafk dkfvhnprfe pwyrheiapg iirkyrrnrt etrgiqfedf
      241 vrylgdpnhr wldlqfgdhi ihwvtyvelc apceimysvi ghhetledda pyilkeagid
      301 hlvsyptipp gitvynrtkv ehyflgiskr dirrlyarfe gdfklfgyqk pdflln
//
LOCUS       XP_047297007             757 aa            linear   PRI 20-MAR-2023
DEFINITION  PAX3- and PAX7-binding protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047297007
VERSION     XP_047297007.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441051.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..757
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..757
                     /product="PAX3- and PAX7-binding protein 1 isoform X2"
                     /calculated_mol_wt=86103
     Region          595..>746
                     /region_name="GCFC"
                     /note="GC-rich sequence DNA-binding factor-like protein;
                     pfam07842"
                     /db_xref="CDD:400273"
     CDS             1..757
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /coded_by="XM_047441051.1:88..2361"
                     /db_xref="GeneID:94104"
                     /db_xref="HGNC:HGNC:13579"
                     /db_xref="MIM:617621"
ORIGIN      
        1 mfrkarrvnv rkrndseeee rerdeeqepp pllpppgtge eagpgggdra pggesllgpg
       61 psppsaltpg lgaeagggfp ggaepgnglk prkrprenke vprasllsfq deeeeneevf
      121 kvkkssyskk ivkllkkeyk edlekskikt elnssaeseq pldktghvkd tnqedgviis
      181 ehgedemdme sekeeekpkt ggafsnalss lnvlrpgeip daafihaark krqmarelgd
      241 ftphdnepgk grlvredend asddedddek rrivfsvkek sqrqkiaeei giegsdddal
      301 vtgeqdeels rweqeqirkg inipqvqasq paevnmyyqn tyqtmpygss ygipysytay
      361 gssdaksqkt dntvpfktps nemtpvtidl vkkqlkdrld smkelhktnr qqhekhlqsr
      421 vdstraierl egssggiger ykflqemrgy vqdllecfse kvplineles aihqlykqra
      481 srlvqrrqdd ikdessefss hsnkalmapn ldsfgrdral yqehakrria erearrtrrr
      541 qareqtgkma dhleglssdd eetstditnf nlekdriske sgkvfedvle sfysidciks
      601 qfeawrskyy tsykdayigl clpklfnpli rlqlltwtpl eakcrdfenm lwfesllfyg
      661 ceereqekdd vdvallptiv ekvilpkltv iaenmwdpfs ttqtsrmvgi tlklingyps
      721 vvnaenkntq vylkalllrm rrtldddvfm plypknc
//
LOCUS       XP_047305153             379 aa            linear   PRI 20-MAR-2023
DEFINITION  acetyl-coenzyme A transporter 1 isoform X4 [Homo sapiens].
ACCESSION   XP_047305153
VERSION     XP_047305153.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449197.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..379
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..379
                     /product="acetyl-coenzyme A transporter 1 isoform X4"
                     /calculated_mol_wt=42717
     Region          <90..374
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     CDS             1..379
                     /gene="SLC33A1"
                     /gene_synonym="ACATN; AT-1; AT1; CCHLND; SPG42"
                     /coded_by="XM_047449197.1:1056..2195"
                     /db_xref="GeneID:9197"
                     /db_xref="HGNC:HGNC:95"
                     /db_xref="MIM:603690"
ORIGIN      
        1 mwvmlllair wakqrvtfwa mfcfwplnlp tfvtnicgfs lnpeesllfq vvylsyygvr
       61 fiypfervcd vggklinlle iivweitqdf lffwgtvfli tttlvallkk enevsvvkee
      121 tqgitdtykl lfaiikmpav ltfcllilta kigfsaadav tglklveegv pkehlallav
      181 pmvplqiilp liiskytagp qplntfykam pyrlllgley allvwwtpkv ehqggfpiyy
      241 yivvllsyal hqvtvysmyv simafnakvs dpliggtymt llntvsnlgg nwpstvalwl
      301 vdpltvkecv gasnqncrtp davelckklg gscvtaldgy yvesiicvfi gfgwwfflgp
      361 kfkklqdegs sswkckrnn
//
LOCUS       XP_047271791             750 aa            linear   PRI 20-MAR-2023
DEFINITION  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X6 [Homo
            sapiens].
ACCESSION   XP_047271791
VERSION     XP_047271791.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047415835.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..750
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..750
                     /product="inactive ubiquitin carboxyl-terminal hydrolase
                     53 isoform X6"
                     /calculated_mol_wt=84430
     Region          31..>249
                     /region_name="UCH"
                     /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443"
                     /db_xref="CDD:425685"
     CDS             1..750
                     /gene="USP53"
                     /gene_synonym="PFIC7"
                     /coded_by="XM_047415835.1:950..3202"
                     /db_xref="GeneID:54532"
                     /db_xref="HGNC:HGNC:29255"
                     /db_xref="MIM:617431"
ORIGIN      
        1 mawvkflrkp ggnlgkvyqp gsmlslaptk gllnepgqns cflnsavqvl wqldifrrsl
       61 rvltghvcqg dacifcalkt ifaqfqhsre kalpsdnirh alaesfkdeq rfqlglmdda
      121 aecfenmler ihfhivpsrd admctsksci thqkfamtly eqcvcrscga ssdplpftef
      181 vryisttalc nevermlerh erfkpemfae llqaanttdd yrkcpsncgq kikirrvlmn
      241 cpeivtiglv wdsehsdlte avvrnlathl ylpgigtrwk dvvskcirch fqplllfyan
      301 pdgtavsted alrqviswsh yksvaenmgc ekpvihksdn lkengfgdqa kqrenqkfpt
      361 dnisssnrsh shtgvgkgpa klshidqrek ikdisrecal kaieqknlls sqrkdlekgq
      421 rkdlgrhrdl vdedlshfqs gsppapngfk qhgnphlyhs qgkgsykhdr vvpqsrasaq
      481 iisssksqil apgekitgkv ksdngtgydt dssqdsrdrg nscdsssksr nrgwkpmret
      541 lnvdsifses ekrqhsprhk pnisnkpkss kdpsfsnwpk enpkqkglmt iyedemkqei
      601 gsrsslesng kgaeknkglv egkvhgdnwq mqrtesgyes sdhisngstn ldspvidgng
      661 tvmdisgvke tvcfsdqitt snlnkergdc tslqsqhhle dhmymktmes yflhpvykyp
      721 rtimqenist sqmnrnlknr mnanflsgli
//
LOCUS       XP_047272794            2904 aa            linear   PRI 20-MAR-2023
DEFINITION  dmX-like protein 1 isoform X9 [Homo sapiens].
ACCESSION   XP_047272794
VERSION     XP_047272794.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416838.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2904
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..2904
                     /product="dmX-like protein 1 isoform X9"
                     /calculated_mol_wt=324107
     Region          114..148
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          162..218
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          234..267
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1142..1875
                     /region_name="Rav1p_C"
                     /note="RAVE protein 1 C terminal; pfam12234"
                     /db_xref="CDD:432413"
     CDS             1..2904
                     /gene="DMXL1"
                     /coded_by="XM_047416838.1:484..9198"
                     /db_xref="GeneID:1657"
                     /db_xref="HGNC:HGNC:2937"
                     /db_xref="MIM:605671"
ORIGIN      
        1 mnlhqvltga vnpgdhcfsv gsigdqrfta yasgcdivil gsdferlqii pgakhgniqv
       61 gcvdcsmqqg kiaasygnvi sifepvnlpk qkknlelysq wqksgqffle siahnitwdp
      121 tgsrlltgss ylqlwsntnl ekptedenln ktdlnfgdwk ciwhcktasq vhlmkfspdg
      181 effatagkdd cllkvwynve nwrtavtspd gssekqsqge idfsfvylah pravngfswr
      241 ktskympras vcnvlltcck dnvcrlwvet flpndcllyg gdcshwtesi nltnnfkrna
      301 sskervqnal evnlrhfrrg rrrslalvah tgylphqqdp hhvhrntplh analchfhia
      361 asinpatdip llpsitslsl neneektgpf vvhwlnnkel hftlsmevfl qqlrksfeqp
      421 sseasvedsn qadvksdeet ddgvddlkin pekkelgcdk mvpnssftsl ssaaidhqie
      481 vllsewskna dmlfsihpmd gsllvwhvdw ldeyqpgmfr qvqvsfvsri pvafptgdan
      541 slcksimmya ctknvdlaiq qgkqkpsglt rstsmlissg hnkssnslkl siftpnvmmi
      601 skhadgslnq wlvsfaeesa fstvlsishk srycghrfhl ndlachsvlp lllttshhna
      661 lrtpdvdnpe qpfdalniee csltqqnkst vdvafqdpsa vyselilwrv dpvgplsfsg
      721 gvselarins lhvsafsnva wlptlipsyc lgaycnspsa cfvasdgqyl rlyeavidak
      781 kllselsnpe iskyvgevfn ivsqqstarp gciialdpit klhgrktqll hvfeedfiln
      841 nlekkslgkd silsnagssp ngfsekfyli viectqdnrs llhmwnlhlk sipvsldekv
      901 dtklseavwq peehyssspe kilspfsqky qacranlqst srltlfsemv ysqelhlpeg
      961 veiisikpsa ghlssssiyp acsapyllat scsdekvrfw rcrvtdgesa tskngkidla
     1021 yiweewplli edglqsnssi tvpgrpvevs cahtnrlava ykqpasnsrs sqdfvmhvsi
     1081 fecestggsc wvleqtihld elstvldsgi svdsnlvayn kqdmylsske nitsntkhlv
     1141 hldwmsredg shiltvgigs klfmygplag kvqdqtgket lafplwestk vvplskfvll
     1201 rsvdlvssvd gsppfpvsls wvrdgilvvg mdcemhvycq wqpsskqepv itdsysgstp
     1261 sitslikqsn sssglhppkk tltrsmtsla qkicgkktaf dpsvdmedsg lfeaahvlsp
     1321 tlpqyhplql lelmdlgkvr rakailshlv kciagevval neaesnherr lrsltisasg
     1381 sttrdpqafn kaentdytei dsvpplplya llaadddscy sslekssnes tlsksnqlsk
     1441 esydelfqtq llmtdthmle tdeentkprv idlsqyspty fgpehaqvls ghllhsslpg
     1501 lsrmeqmslm aladtiatts tdigesrdrs qggetldecg lkfllavrlh tflttslpay
     1561 raqllhqgls tshfawafhs vaeeellnml pamqkddptw selramgvgw wvrntrilrk
     1621 ciekvakaaf yrkndpldaa ifylamkkka viwglyraek ntrmtqffgh nfederwrka
     1681 alknafsllg kqrfehsaaf fllagclrda ievcleklnd iqlalviarl yesefdtsaa
     1741 yksilrkkvl gidspvselc slninmhhdp flrsmaywil edysgaletl ikqpirendd
     1801 qvlsasnptv fnfynylrth plllrrhfgs sdtfsthmsl tgksglagti nlserrlfft
     1861 tasahlkagc pmlalevlsk mpkvikktrp fyrassfldt skdcspsspl kldaredkss
     1921 avdwsqslin gfgsssegss ekqsnstlsf dwsqpsvvfq ddslelkwds dndeenedvp
     1981 ismkelkplq rktdkklddi ssnytesfst ldendllnps ediiavqlkf raclkiltve
     2041 lrtlstgyei dggklryqly hwlekevial qrtcdfcsda eelqsafgrn edefglneda
     2101 edlphqtkvk qlrenfqekr qwllkyqsll rmflsycilh gshggglasv rmelilllqe
     2161 sqqetseplf ssplseqtsv pllfactana ktvvanpllh lsnlthdilh aiinfdspph
     2221 pdiqsnkvyv mhtlaaslsa ciyqclcgsh nyssfqtnqf tgmvyqtvll phrpslktgs
     2281 ldealtpnts paqwpgitcl irllnssgee aqsgltvllc eiltavylsl fihglathss
     2341 nelfrivahp lnekmwsavf gggahvpske qthsktlpgr hfampsphqv vvfsmecvgf
     2401 skalsaissh sppslavssl veegekqnkr frpskmscre sapltpssap vsqeslavke
     2461 kfippelsiw dyfiakpflp ssqsraeyds eeslgsdddd ndddddvlas dfhlqehsns
     2521 nsyswslmrl amvqlvlnnl ktfypfaghd laelpvsspl chavlktlqc weqvllrrle
     2581 ihggppqnyi ashtaeesls agpailrhka lleptntpfk skhhlalsvk rlwqylvkqe
     2641 eiqetfikni ftkkrclnes lednsetikn smmeepnink ieadlgypgg kariihkesd
     2701 iitafavnka nrnciaiass hdvqeldvsg ilatqvytwv dddievetkg sedflvihar
     2761 ddltavqgtt pythsnpgtp inmpwlgstq tgrgasvmik kainnvrrmt shptlpyylt
     2821 gaqdgsvrmf ewghsqqitc frsggnsrvt rmrfnyqgnk fgivdadgyl slyqtnwkcc
     2881 pvtgsmpkpy lkrmfvgysc stcq
//
LOCUS       XP_047274578             526 aa            linear   PRI 20-MAR-2023
DEFINITION  DBH-like monooxygenase protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_047274578
VERSION     XP_047274578.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418622.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..526
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..526
                     /product="DBH-like monooxygenase protein 1 isoform X3"
                     /calculated_mol_wt=60229
     Region          <1..78
                     /region_name="DOMON_DOH"
                     /note="DOMON-like domain of copper-dependent
                     monooxygenases and related proteins; cd09631"
                     /db_xref="CDD:187689"
     Region          100..225
                     /region_name="Cu2_monooxygen"
                     /note="Copper type II ascorbate-dependent monooxygenase,
                     N-terminal domain; pfam01082"
                     /db_xref="CDD:426035"
     Region          247..395
                     /region_name="Cu2_monoox_C"
                     /note="Copper type II ascorbate-dependent monooxygenase,
                     C-terminal domain; pfam03712"
                     /db_xref="CDD:427456"
     CDS             1..526
                     /gene="MOXD1"
                     /gene_synonym="dJ248E1.1; MOX; PRO5780"
                     /coded_by="XM_047418622.1:551..2131"
                     /db_xref="GeneID:26002"
                     /db_xref="HGNC:HGNC:21063"
                     /db_xref="MIM:609000"
ORIGIN      
        1 mdyftnanre lkkdaqqdyh leyamensth tiieftrelh tcdindksit dstvrviway
       61 hhedageagp kyhdsnrgtk slrllnpekt svlstalpyf dlvnqdvpip nkdttywcqm
      121 fkipvfqekh hvikvepviq rgheslvhhi llyqcsnnfn dsvlesghec yhpnmpdafl
      181 tcetvifawa iggegfsypp hvglslgtpl dphyvllevh ydnptyeegl idnsglrlfy
      241 tmdirkydag vieaglwvsl fhtippgmpe fqseghctle cleealeaek psgihvfavl
      301 lhahlagrgi rlrhfrkgke mkllaydddf dfnfqefqyl keeqtilpgd nlitecrynt
      361 kdraemtwgg lstrsemcls yllyyprinl trcasipdim eqlqfigvke iyrpvttwpf
      421 iikspkqykn lsfmdamnkf kwtkkeglsf nklvlslpvn vrcsktdnae wsiqgmtalp
      481 pdierpykae plvcgtssss slhrdfsinl lvcllllsct lstksl
//
LOCUS       XP_047275278             937 aa            linear   PRI 20-MAR-2023
DEFINITION  epithelial discoidin domain-containing receptor 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047275278
VERSION     XP_047275278.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419322.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..937
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..937
                     /product="epithelial discoidin domain-containing receptor
                     1 isoform X1"
                     /calculated_mol_wt=103556
     Region          78..202
                     /region_name="FA58C"
                     /note="Coagulation factor 5/8 C-terminal domain, discoidin
                     domain; Cell surface-attached carbohydrate-binding domain,
                     present in eukaryotes and assumed to have horizontally
                     transferred to eubacterial genomes; cd00057"
                     /db_xref="CDD:238014"
     Site            order(92,123,131)
                     /site_type="other"
                     /note="sugar binding site [chemical binding]"
                     /db_xref="CDD:238014"
     Region          622..931
                     /region_name="PTKc_DDR1"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Discoidin Domain Receptor 1; cd05096"
                     /db_xref="CDD:133227"
     Site            order(634..638,642,671,673,725..728,731..732,790,794..795,
                     797,808,826..830,839,874)
                     /site_type="active"
                     /db_xref="CDD:133227"
     Site            order(634..635,637..638,642,671,673,725..728,731..732,
                     794..795,797,808)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133227"
     Site            order(790,794,826..830,839,874)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133227"
     Site            807..832
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133227"
     CDS             1..937
                     /gene="DDR1"
                     /gene_synonym="CAK; CD167; DDR; EDDR1; HGK2; MCK10; NEP;
                     NTRK4; PTK3; PTK3A; RTK6; TRKE"
                     /coded_by="XM_047419322.1:439..3252"
                     /db_xref="GeneID:780"
                     /db_xref="HGNC:HGNC:2730"
                     /db_xref="MIM:600408"
ORIGIN      
        1 mslprccphp lrpegsgamg pealssllll llvasgdadm kghfdpakcr yalgmqdrti
       61 pdsdisasss wsdstaarhs rlessdgdga wcpagsvfpk eeeylqvdlq rlhlvalvgt
      121 qgrhagglgk efsrsyrlry srdgrrwmgw kdrwgqevis gnedpegvvl kdlgppmvar
      181 lvrfypradr vmsvclrvel ygclwrdgll sytapvgqtm ylseavylnd stydghtvgg
      241 lqygglgqla dgvvglddfr ksqelrvwpg ydyvgwsnhs fssgyvemef efdrlrafqa
      301 mqvhcnnmht lgarlpggve crfrrgpama wegepmrhnl ggnlgdprar avsvplggrv
      361 arflqcrflf agpwllfsei sfisdvvnns spalggtfpp apwwppgppp tnfsslelep
      421 rgqqpvakae gsptailigc lvaiilllll iialmlwrlh wrrllskaer rvleeeltvh
      481 lsvpgdtili nnrpgprepp pyqeprprgn pphsapcvpn gsalllsnpa yrlllatyar
      541 pprgpgpptp awakptntqa ysgdymepek pgapllpppp qnsvphyaea divtlqgvtg
      601 gntyavpalp pgavgdgppr vdfprsrlrf keklgegqfg evhlcevdsp qdlvsldfpl
      661 nvrkghpllv avkilrpdat knasfslfsr ndflkevkim srlkdpniir llgvcvqddp
      721 lcmitdymen gdlnqflsah qledkaaega pgdgqaaqgp tisypmllhv aaqiasgmry
      781 latlnfvhrd latrnclvge nftikiadfg msrnlyagdy yrvqgravlp irwmawecil
      841 mgkfttasdv wafgvtlwev lmlcraqpfg qltdeqvien ageffrdqgr qvylsrppac
      901 pqglyelmlr cwsreseqrp pfsqlhrfla edalntv
//
LOCUS       XP_047279032            1114 aa            linear   PRI 20-MAR-2023
DEFINITION  KN motif and ankyrin repeat domain-containing protein 1 isoform X7
            [Homo sapiens].
ACCESSION   XP_047279032
VERSION     XP_047279032.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423076.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1114
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1114
                     /product="KN motif and ankyrin repeat domain-containing
                     protein 1 isoform X7"
                     /calculated_mol_wt=120554
     Region          <102..326
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          538..>945
                     /region_name="YhgE"
                     /note="Uncharacterized membrane protein YhgE, phage
                     infection protein (PIP) family [Function unknown];
                     COG1511"
                     /db_xref="CDD:224428"
     Region          895..1050
                     /region_name="ANKYR"
                     /note="Ankyrin repeat [Signal transduction mechanisms];
                     COG0666"
                     /db_xref="CDD:223738"
     Region          923..955
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          996..1026
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(997,1001..1002,1005..1007,1009..1010,1014,1017,1026,
                     1028,1030,1034..1035,1038..1040,1042..1043,1047,1051,1060,
                     1062,1064,1068..1069,1072..1074,1076..1077,1081,1084)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          1000..1085
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          1028..1060
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..1114
                     /gene="KANK1"
                     /gene_synonym="ANKRD15; CPSQ2; KANK"
                     /coded_by="XM_047423076.1:514..3858"
                     /db_xref="GeneID:23189"
                     /db_xref="HGNC:HGNC:19309"
                     /db_xref="MIM:607704"
ORIGIN      
        1 metrrrleqe ratmqmtpge frrprlasfg gmgttsslps fvgsgnhnpa khqlqngyqg
       61 ngdygsyapa apttssmgss irhsplssgi stpvtnvspm hlqhireqma ialkrlkele
      121 eqvrtipvlq vkisvlqeek rqlvsqlknq raasqinvcg vrkrsysagn asqleqlsra
      181 rrsggelyid yeeeemetve qstqrikefr qltadmqale qkiqdsscea sselrengec
      241 rsvavgaeen mndivvyhrg srsckdaavg tlvemrncgv svteamlgvm teadkeielq
      301 qqtieslkek iyrlevqlre tthdremtkl kqelqaagsr kkvdkatmaq plvfskvvea
      361 vvqtrdqmvg shmdlvdtcv gtsvetnsvg iscqpecknk vvgpelpmnw wivkervemh
      421 drcagrsvem cdksvsvevs vcetgsntee svndltllkt nlnlkevrsi gcgdcsvdvt
      481 vcspkecasr gvnteavsqv eaavmavprt adqdtstdle qvhqftntet atliesctnt
      541 clstldkqts tqtvetrtva vgegrvkdin sstktrsigv gtllsghsgf drpsavktke
      601 sgvgqinind nylvglkmrt iacgppqltv gltasrrsvg vgddpvgesl enpqpqaplg
      661 mmtgldhyie riqkllaeqq tllaenysel aeafgephsq mgslnsqlis tlssinsvmk
      721 sasteelrnp dfqktslgki tgnylgytck cgglqsgspl ssqtsqpeqe vgtsegkpis
      781 sldafptqeg tlspvnltdd qiaaglyact nnestlksim kkkdgnkdsn gakknlqfvg
      841 inggyelsek mlsacnllkn tindpkalts kdmrfclntl qhewfrvssq ksaipamvgd
      901 yiaafeaisp dvlryvinla dgngntalhy svshsnfeiv kllldadvcn vdhqnkagyt
      961 pimlaalaav eaekdmrive elfgcgdvna kasqagqtal mlavshgrid mvkgllacga
     1021 dvniqddegs talmcasehg hveivkllla qpgcnghled ndgstalsia leaghkdiav
     1081 llyahvnfak aqspgtprlg rktspgpthr gsfd
//
LOCUS       XP_054186994             459 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and BTB domain-containing protein 12 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054186994
VERSION     XP_054186994.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331019.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..459
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..459
                     /product="zinc finger and BTB domain-containing protein 12
                     isoform X1"
                     /calculated_mol_wt=49017
     CDS             1..459
                     /gene="ZBTB12"
                     /gene_synonym="Bat9; C6orf46; D6S59E; G10; NG35"
                     /coded_by="XM_054331019.1:46..1425"
                     /db_xref="GeneID:221527"
                     /db_xref="HGNC:HGNC:19066"
ORIGIN      
        1 masgvevlrf qlpgheaatl rnmnqlraee rfcdvtivad slkfrghkvi laacspflrd
       61 qfllnpssel qvslmhsari vadlllscyt galefavrdi vnyltaasyl qmehvvekcr
      121 nalsqfiepk iglkedgvse aslvssisat ksllppartp kpapkppppp plpppllrpv
      181 klefpldedl elkaeeeded ededvsdici vkvesaleva hrlkppgglg gglgiggsvg
      241 ghlgelaqss vppstvappq gvvkacysls edaegeglll ipggrasvga tsglveaaav
      301 amaargaggs lgaggsrgpl pggfsggnpl knikctkcpe vfqgveklvf hmraqhfifm
      361 cprcgkqfnh ssnlnrhmnv hrgvkshscg icgkcftqks tlhdhlnlhs garpyrcsyc
      421 dvrfahkpai rrhlkeqhgk ttaenvleas vaeinvlir
//
LOCUS       XP_054189143             600 aa            linear   PRI 20-MAR-2023
DEFINITION  golgin subfamily A member 6-like protein 4 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054189143
VERSION     XP_054189143.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333168.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791797) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..600
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.2"
     Protein         1..600
                     /product="golgin subfamily A member 6-like protein 4
                     isoform X3"
                     /calculated_mol_wt=70772
     CDS             1..600
                     /gene="GOLGA6L4"
                     /coded_by="XM_054333168.1:63..1865"
                     /db_xref="GeneID:643707"
                     /db_xref="HGNC:HGNC:27256"
ORIGIN      
        1 mwpqprfpph pamsektqqg klaaakkklk aywqrkspgi paganrkkki ngsspdtats
       61 ggyhspgdsa tgiygegras sttledlesq yqelavalds ssaiisqlte ninslvrtsk
      121 eekkheihlv qklgrslfkl knqtaeplap eppagpskve qlqdetnhlr kelesvgrql
      181 qaevennqml sllnrrqeer lreqeerlre qeerlreqee rlheqeerlr eqeerlceqe
      241 erlreqeerl ceqeerlceq eerlreqeer lheqeerlre qeerlceqee rlreqeerlc
      301 eqeerlreqe erlceqeklp gqerlleeve klleqerrqe eqerllerer lleeveklle
      361 qerqqeeqer llererllee veklleqerq qeeqerller erlleevekl leqerrqeeq
      421 erllererll deveelldev eelleqerlr qqderlwqqe tlqelerlre lerlrelerm
      481 lelgwealye qraeprsgfe elnnenkstl qleqqvkelk ksggaeeprg sesaaaarpv
      541 agapvpqgaw mcgqagwtpq ehpglsgeav gtgeaaggag eaachsfraa enrelnitii
//
LOCUS       XP_054194325            1287 aa            linear   PRI 20-MAR-2023
DEFINITION  SCL-interrupting locus protein isoform X2 [Homo sapiens].
ACCESSION   XP_054194325
VERSION     XP_054194325.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338350.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1287
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1287
                     /product="SCL-interrupting locus protein isoform X2"
                     /calculated_mol_wt=142824
     CDS             1..1287
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /coded_by="XM_054338350.1:792..4655"
                     /db_xref="GeneID:6491"
                     /db_xref="HGNC:HGNC:10879"
                     /db_xref="MIM:181590"
ORIGIN      
        1 mepiypfarp qmntrfpssr mvpfhfppsk calwnptptg dfiylhlsyy rnpklvvtek
       61 tirlayrhak qnkknsscfl lgsltadede egvtltvdrf dpgrevpecl eitptaslpg
      121 dflipckvht qelcsremiv hsvddfssal kalqchicsk dsldcgklls lrvhitsres
      181 ldsvefdlhw aavtlannfk ctpvkpipii ptalarnlss nlnisqvqgt ykygyltmde
      241 trkllllles dpkvyslplv giwlsgithi yspqvwaccl ryifnssvqe rvfsesgnfi
      301 ivlysmthke pefyecfpcd gkipdfrfql ltsketlhlf knveppdknp ircelsaesq
      361 naeteffska sknfsikrss qklssgkmpi hdhdsgvede dfsprpipsp hpvsqkiski
      421 qpsvpelslv ldgnfiesnp lptplemvnn enpplinhle hlkplqpqly dekhspevea
      481 gepslrgipn qlnqdkpall rhckvrqppa ykkgnphtrn sikpsshngp shdifeklqt
      541 vsagnvqnee ypirpstlns rqsslapqsq phdfvfsphn sgrpmelqip tpplpsycst
      601 nvcrccqhhs hiqysplnsw qgantvgsiq dvqsealqkh slfhpsgcpa lycnafcsss
      661 spialrpqgd mgscsphsni epspvarpps hmdlcnpqpc tvcmhtpkte sdngmmglsp
      721 dayrflteqd rqlrllqaqi qrlleaqslm pcspkttave dtvqagrqme lvsveaqssp
      781 glhmrkgvsi avstgaslfw naagedqepd sqmkqddtki ssedmnfsvd innevtslpg
      841 sasslkavdi psfeesniav eeefnqplsv snsslvvrke pdvpvffpsg qlaesvsmcl
      901 qtgptggasn nsetseepki ehvmqpllhq psdnqkiyqd llgqvnhlln sssketeqps
      961 tkaviishec trtqnvyhtk kkthhsrlvd kdcvlnatlk qlrslgvkid sptkvkknah
     1021 nvdhasvlac ispeavisgl ncmsfanvgm sglspngvdl smeanaialk ylnenqlsql
     1081 svtrsnqnnc dpfsllhint drstvglsli spnnmsfatk kymkrygllq ssdnsedeee
     1141 ppdnadskse yllnqnlrsi peqlggqkep skndheiinc sncesvgtna dtpvlrnitn
     1201 evlqtkakqq ltekpaflvk nlkpspavnl rtgkaeftqh pekenegdit ifpeslqpse
     1261 tlkqmnsmns vgtfldvkrl rqlpklf
//
LOCUS       XP_054230606             464 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane and coiled-coil domain-containing protein 3 isoform
            X14 [Homo sapiens].
ACCESSION   XP_054230606
VERSION     XP_054230606.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374631.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..464
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..464
                     /product="transmembrane and coiled-coil domain-containing
                     protein 3 isoform X14"
                     /calculated_mol_wt=52262
     CDS             1..464
                     /gene="TMCO3"
                     /gene_synonym="C13orf11"
                     /coded_by="XM_054374631.1:877..2271"
                     /db_xref="GeneID:55002"
                     /db_xref="HGNC:HGNC:20329"
                     /db_xref="MIM:617134"
ORIGIN      
        1 mitkssrdla envcltckls gaetrgllcp alrtwimkvl grsffwvlfp vlpwavqave
       61 heevaqrvik lhrgrgvaam qsrqwvrdsc rklsgllrqk navlnklkta igavekdvgl
      121 sdeeklfqvh tfeifqkeln esensvfqav yglqralqgd ykdvvnmkes srqrlealre
      181 aaikeeteym ellaaekhqv ealknmqhqn qslsmldeil edvrkaadrl eeeieehafd
      241 dnksvkgvnf eavlrveeee anskqnitkr eveddlglsm lidsqnnqyi ltkprdstip
      301 radhhfikdi vtigmlslpc gwlctaiglp tmfgyiicgv llgpsglnsi ksivqvetlg
      361 efgvfftlfl vglefspekl rkvwkislqg pcymtllmia fgllwghllr ikptqsvfis
      421 tclslsstpl vsrflmgsar gdkegslnsf fpiwtpalcl rdah
//
LOCUS       XP_054232416             320 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase pellino homolog 2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054232416
VERSION     XP_054232416.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376441.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..320
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..320
                     /product="E3 ubiquitin-protein ligase pellino homolog 2
                     isoform X2"
                     /calculated_mol_wt=35278
     CDS             1..320
                     /gene="PELI2"
                     /coded_by="XM_054376441.1:4146..5108"
                     /db_xref="GeneID:57161"
                     /db_xref="HGNC:HGNC:8828"
                     /db_xref="MIM:614798"
ORIGIN      
        1 mfqvgrstes pidfvvtdti sgsqntdeaq itqstisrfa crivcdrnep ytarifaagf
       61 dsskniflge kaakwknpdg hmdglttngv lvmhprggft eesqpgvwre isvcgdvytl
      121 retrsaqqrg klvesetnvl qdgslidlcg atllwrtadg lfhtptqkhi ealrqeinaa
      181 rpqcpvglnt lafpsinrke vveekqpway lscghvhgyh nwghrsdtea nerecpmcrt
      241 vgpyvplwlg ceagfyvdag ppthaftpcg hvcseksaky wsqiplphgt hafhaacpfc
      301 atqlvgeqnc iklifqgpid
//
LOCUS       XP_054171210             400 aa            linear   PRI 20-MAR-2023
DEFINITION  cystinosin isoform X1 [Homo sapiens].
ACCESSION   XP_054171210
VERSION     XP_054171210.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315235.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..400
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..400
                     /product="cystinosin isoform X1"
                     /calculated_mol_wt=44894
     CDS             1..400
                     /gene="CTNS"
                     /gene_synonym="CTNS-LSB; PQLC4; SLC66A4"
                     /coded_by="XM_054315235.1:520..1722"
                     /db_xref="GeneID:1497"
                     /db_xref="HGNC:HGNC:2518"
                     /db_xref="MIM:606272"
ORIGIN      
        1 mirnwltifi lfplklvekc essvsltvpp vvklengsst nvsltlrppl natlvitfei
       61 tfrsknitil elpdevvvpp gvtnssfqvt sqnvgqltvy lhgnhsnqtg prirflvirs
      121 saisiinqvi gwiyfvawsi sfypqvimnw rrksviglsf dfvalnltgf vaysvfnigl
      181 lwvpyikeqf llkypngvnp vnsndvffsl havvltliii vqcclyergg qrvswpaigf
      241 lvlawlfafv tmivaavgvi twlqflfcfs yiklavtlvk yfpqaymnfy ykstegwsig
      301 nvlldftggs fsllqmflqs ynndqwtlif gdptkfglgv fsivfdvvff iqhfclyrkr
      361 pglqaartgs gsrlrqdwaa slqpkalpqt tsvsasslkg
//
LOCUS       XP_054173131            1004 aa            linear   PRI 20-MAR-2023
DEFINITION  caspase recruitment domain-containing protein 14 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054173131
VERSION     XP_054173131.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317156.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 6% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1004
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1004
                     /product="caspase recruitment domain-containing protein 14
                     isoform X1"
                     /calculated_mol_wt=113153
     CDS             1..1004
                     /gene="CARD14"
                     /gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
                     /coded_by="XM_054317156.1:672..3686"
                     /db_xref="GeneID:79092"
                     /db_xref="HGNC:HGNC:16446"
                     /db_xref="MIM:607211"
ORIGIN      
        1 mgelcrrdsa ltaldeetlw emmeshrhri vrcicpsrlt pylrqakvlc qldeeevlhs
       61 prltnsamra ghlldllktr gkngaiafle slkfhnpdvy tlvtglqpdv dfsnfsglme
      121 tsklteclag aigslqeeln qekgqkevll rrcqqlqehl glaetraegl hqleadhsrm
      181 krevsahfhe vlrlkdemls lslhysnalq ekelaasrcr slqeelyllk qelqranmvs
      241 scelelqeqs lrtasdqesg deelnrlkee neklrsltfs laekdileqs ldeargsrqe
      301 lverihslre ravaaerqre qyweekeqtl lqfqkskmac qlyrekvnal qaqvcelqke
      361 rdqaysards aqreisqslv ekdslrrqvf eltdqvcelr tqlrqlqaep pgvlkqeart
      421 repcprekqr lvrmhaicpr ddsdcslvss tesqllsdls atssrelvds frssspapps
      481 qqslykrvae dfgeepwsfs scleipegdp galpgakagd phldyelldt adlpqlessl
      541 qpvspgrldv sesgvlmrrr parrilsqvt mlafqgdall eqisiiggnl tgifihrvtp
      601 gsaadqmalr pgtqivmvdy easeplfkav ledttleeav gllrrvdgfc clsvkvntdg
      661 ykrllqdlea kvatsgdsfy irvnlamegr akgelqvhcn evlhvtdtmf qgcgcwhahr
      721 vnsytmkdta ahgtipnysr aqqqlialiq dmtqqctvtr kpssggpqkl vrivsmdkak
      781 asplrlsfdr gqldpsrmeg sstcfwaesc ltlvpytlvr phrparprpv llvpravgki
      841 lseklcllqg fkkclaeyls qeeyeawsqr gdiiqegevs ggrcwvtrha veslmeknth
      901 alldvqldsv ctlhrmdifp ivihvsvnek makklkkglq rlgtseeqll eaarqeegdl
      961 drapclyssl apdgwsdldg llscvrqaia deqkkvvwte qspr
//
LOCUS       XP_054176922             364 aa            linear   PRI 20-MAR-2023
DEFINITION  intermediate conductance calcium-activated potassium channel
            protein 4 isoform X2 [Homo sapiens].
ACCESSION   XP_054176922
VERSION     XP_054176922.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320947.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 16% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..364
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..364
                     /product="intermediate conductance calcium-activated
                     potassium channel protein 4 isoform X2"
                     /calculated_mol_wt=39567
     CDS             1..364
                     /gene="KCNN4"
                     /gene_synonym="DHS2; hIKCa1; hKCa4; hSK4; IK; IK1; IKCA1;
                     KCa3.1; KCA4; SK4"
                     /coded_by="XM_054320947.1:298..1392"
                     /db_xref="GeneID:3783"
                     /db_xref="HGNC:HGNC:6293"
                     /db_xref="MIM:602754"
ORIGIN      
        1 mhdqhfhllt plphrglscq rgpavhdrqr aaglargadr aaggadraga ggvwaapgar
       61 agpavragfr gaadlpaala gipgprgsaa vpghaaaslp gaprrapaqr rpaqrflpqh
      121 rrsqssplpp lvrgqalheh apwppaarph awpladhrlg avrgreavna tghlsdtlwl
      181 ipitfltigy gdvvpgtmwg kivclctgvm gvcctallva vvarklefnk aekhvhnfmm
      241 diqytkemke saarvlqeaw mfykhtrrke shaarrhqrk llaainafrq vrlkhrklre
      301 qvnsmvdisk mhmilydlqq nlssshrale kqidtlagkl daltellsta lgprqlpeps
      361 qqsk
//
LOCUS       XP_054177882             362 aa            linear   PRI 20-MAR-2023
DEFINITION  C5a anaphylatoxin chemotactic receptor 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054177882
VERSION     XP_054177882.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321907.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..362
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..362
                     /product="C5a anaphylatoxin chemotactic receptor 1 isoform
                     X2"
                     /calculated_mol_wt=40641
     CDS             1..362
                     /gene="C5AR1"
                     /gene_synonym="C5A; C5AR; C5R1; CD88"
                     /coded_by="XM_054321907.1:1638..2726"
                     /db_xref="GeneID:728"
                     /db_xref="HGNC:HGNC:1338"
                     /db_xref="MIM:113995"
ORIGIN      
        1 mlqiaanrpw kswnsfnytt pdyghyddkd tldlntpvdk tsntlrvpdi lalvifavvf
       61 lvgvlgnalv vwvtafeakr tinaiwflnl avadflscla lpilftsivq hhhwpfggaa
      121 csilpslill nmyasillla tisadrfllv fkpiwcqnfr gaglawiaca vawglalllt
      181 ipsflyrvvr eeyfppkvlc gvdyshdkrr eravaivrlv lgflwplltl ticytfillr
      241 twsrratrst ktlkvvvavv asffifwlpy qvtgimmsfl epssptflll nkldslcvsf
      301 ayinccinpi iyvvagqgfq grlrkslpsl lrnvlteesv vresksftrs tvdtmaqktq
      361 av
//
LOCUS       XP_054199025             389 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase KCMF1 isoform X2 [Homo sapiens].
ACCESSION   XP_054199025
VERSION     XP_054199025.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343050.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..389
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..389
                     /product="E3 ubiquitin-protein ligase KCMF1 isoform X2"
                     /calculated_mol_wt=42650
     CDS             1..389
                     /gene="KCMF1"
                     /gene_synonym="DEBT91; FIGC; PCMF; ZZZ1"
                     /coded_by="XM_054343050.1:351..1520"
                     /db_xref="GeneID:56888"
                     /db_xref="HGNC:HGNC:20589"
                     /db_xref="MIM:614719"
ORIGIN      
        1 mcclpdqvle nddgvscdac lkgnfrgrry kclicydydl cascyesgat ttrhttdhpm
       61 qciltrvdfd lyyggeafsv eqpqsftcpy cgkmgytets lqehvtseha etstevicpi
      121 caalpggdpn hvtddfaahl tlehraprdl dessgvrhvr rmfhpgrglg gprarrsnmh
      181 ftssstggls ssqssyspsn reamdpiael lsqlsgvrrs aggqlnssgp sasqlqqlqm
      241 qlqlerqhaq aarqqletar natrrtntss vtttitqsta ttniantess qqtlqnsqfl
      301 ltrlndpkms eterqsmese radrslfvqe lllstlvree ssssdeddrg emadfgamgc
      361 vdimpldval enlnlkesnk gnepppppl
//
LOCUS       XP_054200527             404 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat flightless-interacting protein 1 isoform X45
            [Homo sapiens].
ACCESSION   XP_054200527
VERSION     XP_054200527.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344552.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..404
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..404
                     /product="leucine-rich repeat flightless-interacting
                     protein 1 isoform X45"
                     /calculated_mol_wt=46060
     CDS             1..404
                     /gene="LRRFIP1"
                     /gene_synonym="FLAP-1; FLAP1; FLIIAP1; GCF-2; GCF2;
                     HUFI-1; TRIP"
                     /coded_by="XM_054344552.1:59..1273"
                     /db_xref="GeneID:9208"
                     /db_xref="HGNC:HGNC:6702"
                     /db_xref="MIM:603256"
ORIGIN      
        1 mdmgtqgsgr krlpnrerlt aeddalnqia reaearlaak raaraearei rmkelerqqk
       61 eveerpekdf tekgsrnmpg lsaatlaslg gtssrrgsgd tsisidteas ireikdslae
      121 veekykkamv snaqldnekt nfmyqvdtlk dmlleleeql aesrrqyeek nkeferekha
      181 hsilqfqfae vkealkqree mlekhgiiln seiatngets dtlnnvgyqg ptkmtkeeln
      241 alkstgdgtl dirlkklvde reclleqikk lkgqleerqk igkldnlrse ddvlengtdm
      301 hvmdlqrdan rqisdlkfkl akseqeital eqnvirlesq vsryksaaen aekiedelka
      361 ekrklqrelr saldkteele vsnghlvkrl ekmkanrsal lsqq
//
LOCUS       XP_054178819             568 aa            linear   PRI 20-MAR-2023
DEFINITION  ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform
            X1 [Homo sapiens].
ACCESSION   XP_054178819
VERSION     XP_054178819.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322844.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..568
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..568
                     /product="ranBP-type and C3HC4-type zinc finger-containing
                     protein 1 isoform X1"
                     /calculated_mol_wt=63882
     CDS             1..568
                     /gene="RBCK1"
                     /gene_synonym="C20orf18; HOIL-1; HOIL1; PBMEI; PGBM1;
                     RBCK2; RNF54; UBCE7IP3; XAP3; XAP4; ZRANB4"
                     /coded_by="XM_054322844.1:460..2166"
                     /db_xref="GeneID:10616"
                     /db_xref="HGNC:HGNC:15864"
                     /db_xref="MIM:610924"
ORIGIN      
        1 mdektkkape nkpcanwlll ywlsaeemal sltravaggd eqvamkcaiw laeqrvplsv
       61 qlkpevsptq dirsrgekte evgevrevpd hggpcvlprv dskssveple gpnwlwvsve
      121 daqmhtvtiw ltvrpdmtva slkdmvfldy gfppvlqqwv igqrlardqe tlhshgvrqn
      181 gdsaylylls arntslnpqe lqrerqlrml edlgfkdltl qprgplepgp pkpgvpqepg
      241 rgqpdavpep ppvgwqcpgc tfinkptrpg cemccrarpe ayqvpasyqp deeerarlag
      301 eeealrqyqq rkqqqqegny lqhvqldqrs lvlntepaec pvcysvlapg eavvlreclh
      361 tfcreclqgt irnsqeaevs cpfidntysc sgkllereik alltpedyqr fldlgisiae
      421 nrsafsyhck tpdckgwcff eddvneftcp vcfhvncllc kaiheqmnck eyqedlalra
      481 qndvaarqtt emlkvmlqqg eamrcpqcqi vvqkkdgcdw irctvchtei cwvtkgprwg
      541 pggpgdtsgg crcrvngipc hpscqnch
//
LOCUS       XP_054179265             299 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium/hydrogen exchanger 8 isoform X12 [Homo sapiens].
ACCESSION   XP_054179265
VERSION     XP_054179265.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323290.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..299
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..299
                     /product="sodium/hydrogen exchanger 8 isoform X12"
                     /calculated_mol_wt=32721
     CDS             1..299
                     /gene="SLC9A8"
                     /gene_synonym="NHE-8; NHE8"
                     /coded_by="XM_054323290.1:96..995"
                     /db_xref="GeneID:23315"
                     /db_xref="HGNC:HGNC:20728"
                     /db_xref="MIM:612730"
ORIGIN      
        1 mgekmaeeer fpntthegfn vtlhttlvvt tklvlptpgk pilpvqtgeq aqqeeqssgm
       61 tiffsllvla iciilvhlli ryrlhflpes vavvslgilm gavikiiefk klanwkeeem
      121 frpnmfflll lppiifesgy slhkgnffqn igsitlfavf gtaisafvvg ggiyflgqgf
      181 ffvcvcvfvc filqadvisk lnmtdsfafg slisavdpva tiaifnalhv dpvlnmlvfg
      241 esilndavsi vltnteekya pgscchlslv iriipgfeep egrsslraaa llsslnprk
//
LOCUS       XP_054179869             393 aa            linear   PRI 20-MAR-2023
DEFINITION  sperm-associated antigen 4 protein isoform X1 [Homo sapiens].
ACCESSION   XP_054179869
VERSION     XP_054179869.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323894.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..393
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..393
                     /product="sperm-associated antigen 4 protein isoform X1"
                     /calculated_mol_wt=43789
     CDS             1..393
                     /gene="SPAG4"
                     /gene_synonym="CT127; SUN4"
                     /coded_by="XM_054323894.1:38..1219"
                     /db_xref="GeneID:6676"
                     /db_xref="HGNC:HGNC:11214"
                     /db_xref="MIM:603038"
ORIGIN      
        1 mrrssrpgsa sssrkhtpnf fsenssmsit sedskglrsa epgpgepegr rargpscept
       61 gspvvseepl dllptldlrq emppprvfks flsllfqgls vllslagdvl vsmyrevcsi
      121 rflftavsll slflsafwlg llylvsplen epkemltlse yhervrsqgq qlqqlqaeld
      181 klhkevstvr aanservakl vfqrlnedfv rkpdyalssv gasidlqkts hdyadrntay
      241 fwnrfsfwny arpptvilep hvfpgncwaf egdqgqvviq lpgrvqlsdi tlqhpppsve
      301 htggansapr dfavfglqvy detevslgkf tfdvekseiq tfhlqndppa afpkvkiqil
      361 snwghprftc lyrvrahgvr tsegaegsaq gph
//
LOCUS       XP_054181219             627 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein EWS isoform X17 [Homo sapiens].
ACCESSION   XP_054181219
VERSION     XP_054181219.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325244.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..627
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..627
                     /product="RNA-binding protein EWS isoform X17"
                     /calculated_mol_wt=65260
     CDS             1..627
                     /gene="EWSR1"
                     /gene_synonym="bK984G1.4; EWS; EWS-FLI1"
                     /coded_by="XM_054325244.1:70..1953"
                     /db_xref="GeneID:2130"
                     /db_xref="HGNC:HGNC:3508"
                     /db_xref="MIM:133450"
ORIGIN      
        1 mastdystys qaaaqqgysa ytaqptqgya qttqaygqqs ygtygqptdv sytqaqttat
       61 ygqtayatsy gqpptgyttp tapqaysqpv qgygtgaydt ttatvtttqa syaaqsaygt
      121 qpaypaygqq paataptrpq dgnkptetsq pqsstggynq pslgygqsny sypqvpgsyp
      181 mqpvtappsy pptsysstqp tsydqssysq qntygqpssy gqqssygqqs sygqqpptsy
      241 ppqtgsysqa psqysqqsss ygqqssfrqd hpssmgvygq esggfsgpge nrsmsgpdnr
      301 grgrggfdrg gmsrggrggg rggmgagerg gfnkpggpmd egpdldlgpp vdpdedsdns
      361 aiyvqglnds vtlddladff kqcgvvkmnk rtgqpmihiy ldketgkpkg datvsyedpp
      421 takaavewfd gpggpggpgg pmgrmggrgg drggfpprgp rgsrgnpsgg gnvqhragdw
      481 qcpnpsigdf ccdvivcrgc gnqnfawrte cnqckapkpe gflpppfppp ggdrgrggpg
      541 gmrggrgglm drggpggmfr ggrggdrggf rggrgmdrgg fgggrrggpg gppgplmeqm
      601 ggrrggrggp gkmdkgehrq errdrpy
//
LOCUS       XP_054204752             398 aa            linear   PRI 20-MAR-2023
DEFINITION  bifunctional phosphoribosylaminoimidazole
            carboxylase/phosphoribosylaminoimidazole succinocarboxamide
            synthetase isoform X4 [Homo sapiens].
ACCESSION   XP_054204752
VERSION     XP_054204752.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348777.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..398
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..398
                     /product="bifunctional phosphoribosylaminoimidazole
                     carboxylase/phosphoribosylaminoimidazole
                     succinocarboxamide synthetase isoform X4"
                     /calculated_mol_wt=44126
     CDS             1..398
                     /gene="PAICS"
                     /gene_synonym="ADE2; ADE2H1; AIRC; PAICSD; PAIS"
                     /coded_by="XM_054348777.1:151..1347"
                     /db_xref="GeneID:10606"
                     /db_xref="HGNC:HGNC:8587"
                     /db_xref="MIM:172439"
ORIGIN      
        1 mlppgrqdls saslpgavaa lsplrimata evlnigkkly egktkevyel ldspgkvllq
       61 skdqitagna arknhlegka aisnkitsci fqllqeagik taftrkcget afiapqcemi
      121 piewvcrria tgsflkrnpg vkegykfypp kvelffkdda nndpqwseeq liaakfcfag
      181 lligqtevdi mshatqaife ilekswlpqn ctlvdmkief gvdvttkeiv ladvidndsw
      241 rlwpsgdrsq qkdkqsyrdl kevtpeglqm vkknfewvae rvelllkses qcrvvvlmgs
      301 tsdlghceki kkacgnfgip celrvtsahk gpdetlrika eyeglgcstv lspegsaqfa
      361 aqifglsnhl vwsklrasil ntwislkqad kkirecnl
//
LOCUS       XP_054206610            1195 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 19 isoform X4 [Homo sapiens].
ACCESSION   XP_054206610
VERSION     XP_054206610.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350635.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1195
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1195
                     /product="WD repeat-containing protein 19 isoform X4"
                     /calculated_mol_wt=134720
     CDS             1..1195
                     /gene="WDR19"
                     /gene_synonym="ATD5; CED4; CFAP66; DYF-2; FAP66; IFT144;
                     NPHP13; ORF26; Oseg6; PWDMP; SPGF72; SRTD5"
                     /coded_by="XM_054350635.1:30..3617"
                     /db_xref="GeneID:57728"
                     /db_xref="HGNC:HGNC:18340"
                     /db_xref="MIM:608151"
ORIGIN      
        1 mkrifsllek twlgapiqfa wqktsgnyla vtgadyivki fdrhgqkrse inlpgncvam
       61 dwdkdgdvla viaekssciy lwdantnkts qldngmrdqm sfllwskvgs flavgtvkgn
      121 lliynhqtsr kipvlgkhtk ritcgcwnae nllalggedk mitvsnqegd tirqtqvrse
      181 psnmqfflmk mddrtsaaes misvvlgkkt lfflnlnepd npadlefqqd fgnivcynwy
      241 gdgrimigfs cghfvvisth tgelgqeifq arnhkdnlts iavsqtlnkv atcgdnciki
      301 qdlvdlkdmy vilnldeenk glgtlswtdd gqllalstqr gslhvfltkl pilgdacstr
      361 iayltsllev tvanpvegel pitvsvdvep nfvavglyhl avgmnnrawf yvlgenavkk
      421 lkdmeylgtv asiclhsdya aalfegkvql hlieseilda qeeretrlfp avddkcrilc
      481 haltsdfliy gtdtgvvqyf yiedwqfvnd yrhpvsvkki fpdpngtrlv fideksdgfv
      541 ycpvndatye ipdfsptikg vlwenwpmdk gvfiaydddk vytyvfhkdt iqgakvilag
      601 stkvpfahkp lllyngeltc qtqsgkvnni ylsthgflsn lkdtgpdelr pmlaqnlmlk
      661 rfsdawemcr ilndeaawne laraclhhme vefairvyrr ignvgivmsl eqikgiedyn
      721 llaghlamft ndynlaqdly lasscpiaal evwqqmrrdl qhwdsalqla khlapdqipf
      781 iskeyaiqle fagdyvnala hyekgitgdn kehdeaclag vaqmsirmgd irrgvnqalk
      841 hpsrvlkrdc gailenmkqf seaaqlyekg lyydkaasvy irsknwakvg dllphvsspk
      901 ihlqyakake adgrykeavv ayenakqwqs viriyldhln npekavnivr etqsldgakm
      961 varfflqlgd ygsaiqflvm skcnneaftl aqqhnkmeiy adiigsedtt nedyqsialy
     1021 fegekrylqa gkffllcgqy sralkhflkc pssednvaie maietvgqak delltnqlid
     1081 hllgendgmp kdakylfrly malkqyreaa qtaiiiaree qsagnyrnah dvlfsmyael
     1141 ksqkikipse matnlmilhs yilvkihvkn gdhmkgarml irvanniskf pspap
//
LOCUS       XP_054209038             269 aa            linear   PRI 20-MAR-2023
DEFINITION  centromere protein K isoform X2 [Homo sapiens].
ACCESSION   XP_054209038
VERSION     XP_054209038.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353063.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..269
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..269
                     /product="centromere protein K isoform X2"
                     /calculated_mol_wt=31524
     CDS             1..269
                     /gene="CENPK"
                     /gene_synonym="AF5alpha; CENP-K; FKSG14; P33; Solt"
                     /coded_by="XM_054353063.1:324..1133"
                     /db_xref="GeneID:64105"
                     /db_xref="HGNC:HGNC:29479"
                     /db_xref="MIM:611502"
ORIGIN      
        1 mnqedldpds ttdvgdvtnt eeelirecee mwkdmeecqn klsligtetl tdsnaqlsll
       61 imqvkcltae lsqwqkktpe tipltedvli tlgkeefqkl rqdlemvlst keskneklke
      121 dlereqrwld eqqqimesln vlhselknkv etfsesrifn elktkmlnik eykekllstl
      181 gefledhfpl pdrsvkkkkk niqessvnli tlhemleili nrlfdvphdp yvkisdsfwp
      241 pyvelllrng ialrhpedpt rirleafhq
//
LOCUS       XP_054210821            1166 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and SAM domain-containing protein 1A isoform X1
            [Homo sapiens].
ACCESSION   XP_054210821
VERSION     XP_054210821.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354846.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1166
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1166
                     /product="ankyrin repeat and SAM domain-containing protein
                     1A isoform X1"
                     /calculated_mol_wt=126862
     CDS             1..1166
                     /gene="ANKS1A"
                     /gene_synonym="ANKS1"
                     /coded_by="XM_054354846.1:149..3649"
                     /db_xref="GeneID:23294"
                     /db_xref="HGNC:HGNC:20961"
                     /db_xref="MIM:608994"
ORIGIN      
        1 mgkeqellea artghlpave kllsgkrlss gfgggggggs ggggggsggg ggglgssshp
       61 lssllsmwrg pnvncvdstg ytplhhaaln ghkdvvevll rndaltnvad skgcyplhla
      121 awkgdaqivr llihqgpsht rvneqnalei kelkkygpfd pyinaknndn etalhcaaqy
      181 ghtevvkvll eeltdptmrn nkfetpldla alygrlevvk mllnahpnll scntkkhtpl
      241 hlaarnghka vvqvlldagm dsnyqtemgs alheaalfgk tdvvqillaa gtdvnikdnh
      301 gltaldtvre lpsqksqqia aliedhmtgk rstkevdktp ppqpplissm dsisqksqgd
      361 vekavtelii dfdanaeeeg pyealynais chsldsmasg rssdqdstnk eaeaagvkpa
      421 gvrprerppp pakpppdeee edhidkkyfp ltasevlsmr prihgsaare edehpyelll
      481 taetkkvvlv dgktkdhrrs sssrsqdsae gqdgqvpeqf sgllhgsspv cevgqdpfql
      541 lctagqshpd gspqqgachk asmqleetgv hapgasqpsa ldqskrvgyl tglpttnsrs
      601 hpetlthtas phpggaeegd rsgarsrapp tskpkaelkl srslsksdsd lltcspteda
      661 tmgsrsesls ncsigkkrle kspsfasewd eiekimssig egidfsqerq kisgsrtleq
      721 svgewlesig lqqyesklll ngfddvhflg snvmeeqdlr digisdpqhr rkllqaarsl
      781 pkvkalgydg nsppsvpswl dslglqdyvh sflssgyssi dtvknlwele lvnvlkvqll
      841 ghrkriiasl adrpyeeppq kpprfsqlrc qdllsqtssp lsqndsctgr sadlllppgd
      901 tgrrrhdslh dpaapsraer friqeehrea kltlrppsla apyapvqswq hqpeklifes
      961 cgyeanylgs mlikdlrgte stqdacakmr kstehmkkip tiilsitykg vkfidasnkq
     1021 nviaeheirn iscaaqdped lctfayitkd lqtshhychv fstvdvnlty eiiltlgqaf
     1081 evayqlalqa qksratgasa aemietkssk pvpkprvgvr ksaleppdmd qdaqshasvs
     1141 wvvdpkpdsk rslstnfhwi sywski
//
LOCUS       XP_054214999             941 aa            linear   PRI 20-MAR-2023
DEFINITION  cilia- and flagella-associated protein 69 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054214999
VERSION     XP_054214999.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359024.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..941
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..941
                     /product="cilia- and flagella-associated protein 69
                     isoform X3"
                     /calculated_mol_wt=106044
     CDS             1..941
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /coded_by="XM_054359024.1:252..3077"
                     /db_xref="GeneID:79846"
                     /db_xref="HGNC:HGNC:26107"
                     /db_xref="MIM:617949"
ORIGIN      
        1 mwteeagata eaqesgirnk sssssqipvv gvvteddeaq dvfkpmdlnr viklleetdk
       61 dgleekqlkf vkklvqcyqn glplrdlaqi fkilnlcsgk iknqprfies aydiiklcgl
      121 pflkkkvsde ityaedtans iallgdlmki psselriqic yqqasssyki qmaevgglak
      181 tmvqsmtlle nqlveklwvl kvlqhlstse vnctimmkaq aasgicthln dpdpsgqllf
      241 rsseilwnll eksskeeviq qlsnleclla lkevfknlfm rgfshydrql rndilvitti
      301 iaqnpeapmi ecgftkdlil fatfnevksq nllvkglkls nsyedfelkk llfnvivilc
      361 kdlptvqlli dgkvilalft yvkkpekqki idwsaaqhee lqlhaiatls svapllieey
      421 mscqgnarvl aflewcesed pffshgnsfh gtggrgnkfa qmryslrllr amvyledetv
      481 nkdlcekgti qqmigifkni iskpnekeea ivleiqsdil lilsglcenh iqrkeifgte
      541 gvdivlhvmk tdprklqsgl gynvllfstl dsiwccilgc ypsedyflek egifllldll
      601 alnqkkfcnl ilgimvefcd npktaahvna wqgkkdqtaa slliklwrke ekelgvkrdk
      661 ngkiidtkkp lftsfqeeqk iiplpancps iavmdvseni rakiyailgk ldfenlpgls
      721 aedfvtlcii hryldfkige iwneiyeeik leklrpvttd kkaleaitta senigkmvas
      781 lqsdiiesqa cqdmqneqkv yakiqathkq relankswed flartsnakt lkkakrlqek
      841 aieasryhkr pqnaifhqth ikglntmvps ggvvtvestp arlvggplvd tdialkklpi
      901 rggalqrvka vkivdapkks iptswlekmn vdihevarkq r
//
LOCUS       XP_054217930             439 aa            linear   PRI 20-MAR-2023
DEFINITION  ciliary neurotrophic factor receptor subunit alpha isoform X3 [Homo
            sapiens].
ACCESSION   XP_054217930
VERSION     XP_054217930.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361955.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..439
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..439
                     /product="ciliary neurotrophic factor receptor subunit
                     alpha isoform X3"
                     /calculated_mol_wt=47336
     CDS             1..439
                     /gene="CNTFR"
                     /coded_by="XM_054361955.1:283..1602"
                     /db_xref="GeneID:1271"
                     /db_xref="HGNC:HGNC:2170"
                     /db_xref="MIM:118946"
ORIGIN      
        1 measgpqlhl ewqvarmsaa lpifpglgpg qhsldsiltg qrlrvysssd gggaagskdt
       61 lglsssvmaa pvpwaccavl aaaaavvyaq rhspqeaphv qyerlgsdvt lpcgtanwda
      121 avtwrvngtd lapdllngsq lvlhglelgh sglyacfhrd swhlrhqvll hvglpprepv
      181 lscrsntypk gfycswhlpt ptyipntfnv tvlhgskimv cekdpalknr chirymhlfs
      241 tikykvsisv snalghnata itfdeftivk pdppenvvar pvpsnprrle vtwqtpstwp
      301 dpesfplkff lryrplildq wqhvelsdgt ahtitdayag keyiiqvaak dneigtwsdw
      361 svaahatpwt eeprhlttea qaaetttstt sslapppttk icdpgelgsg ggpsapflvs
      421 vpitlalaaa aatasslli
//
LOCUS       NP_060828                709 aa            linear   PRI 22-MAR-2023
DEFINITION  ATP-binding cassette sub-family F member 3 isoform 1 [Homo
            sapiens].
ACCESSION   NP_060828
VERSION     NP_060828.2
DBSOURCE    REFSEQ: accession NM_018358.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 709)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 709)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   3  (residues 1 to 709)
  AUTHORS   Guo Z, Neilson LJ, Zhong H, Murray PS, Zanivan S and Zaidel-Bar R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 709)
  AUTHORS   Zhou J, Lin Y, Shi H, Huo K and Li Y.
  TITLE     hABCF3, a TPD52L2 interacting partner, enhances the proliferation
            of human liver cancer cell lines in vitro
  JOURNAL   Mol Biol Rep 40 (10), 5759-5767 (2013)
   PUBMED   24052230
  REMARK    GeneRIF: hABCF3 positively regulates cell proliferation, at least
            partially through the interaction with a tumor protein D52 protein
            family member: TPD52L2.
REFERENCE   5  (residues 1 to 709)
  AUTHORS   Ripke S, Wray NR, Lewis CM, Hamilton SP, Weissman MM, Breen G,
            Byrne EM, Blackwood DH, Boomsma DI, Cichon S, Heath AC, Holsboer F,
            Lucae S, Madden PA, Martin NG, McGuffin P, Muglia P, Noethen MM,
            Penninx BP, Pergadia ML, Potash JB, Rietschel M, Lin D,
            Muller-Myhsok B, Shi J, Steinberg S, Grabe HJ, Lichtenstein P,
            Magnusson P, Perlis RH, Preisig M, Smoller JW, Stefansson K, Uher
            R, Kutalik Z, Tansey KE, Teumer A, Viktorin A, Barnes MR, Bettecken
            T, Binder EB, Breuer R, Castro VM, Churchill SE, Coryell WH,
            Craddock N, Craig IW, Czamara D, De Geus EJ, Degenhardt F, Farmer
            AE, Fava M, Frank J, Gainer VS, Gallagher PJ, Gordon SD, Goryachev
            S, Gross M, Guipponi M, Henders AK, Herms S, Hickie IB, Hoefels S,
            Hoogendijk W, Hottenga JJ, Iosifescu DV, Ising M, Jones I, Jones L,
            Jung-Ying T, Knowles JA, Kohane IS, Kohli MA, Korszun A, Landen M,
            Lawson WB, Lewis G, Macintyre D, Maier W, Mattheisen M, McGrath PJ,
            McIntosh A, McLean A, Middeldorp CM, Middleton L, Montgomery GM,
            Murphy SN, Nauck M, Nolen WA, Nyholt DR, O'Donovan M, Oskarsson H,
            Pedersen N, Scheftner WA, Schulz A, Schulze TG, Shyn SI, Sigurdsson
            E, Slager SL, Smit JH, Stefansson H, Steffens M, Thorgeirsson T,
            Tozzi F, Treutlein J, Uhr M, van den Oord EJ, Van Grootheest G,
            Volzke H, Weilburg JB, Willemsen G, Zitman FG, Neale B, Daly M,
            Levinson DF and Sullivan PF.
  CONSRTM   Major Depressive Disorder Working Group of the Psychiatric GWAS
            Consortium
  TITLE     A mega-analysis of genome-wide association studies for major
            depressive disorder
  JOURNAL   Mol Psychiatry 18 (4), 497-511 (2013)
   PUBMED   22472876
REFERENCE   6  (residues 1 to 709)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   7  (residues 1 to 709)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   8  (residues 1 to 709)
  AUTHORS   Dean M, Rzhetsky A and Allikmets R.
  TITLE     The human ATP-binding cassette (ABC) transporter superfamily
  JOURNAL   Genome Res 11 (7), 1156-1166 (2001)
   PUBMED   11435397
  REMARK    Review article
REFERENCE   9  (residues 1 to 709)
  AUTHORS   Allikmets R, Gerrard B, Hutchinson A and Dean M.
  TITLE     Characterization of the human ABC superfamily: isolation and
            mapping of 21 new genes using the expressed sequence tags database
  JOURNAL   Hum Mol Genet 5 (10), 1649-1655 (1996)
   PUBMED   8894702
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC131235.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 6, 2007 this sequence version replaced NP_060828.1.
            
            Summary: This gene encodes a member of the ATP-binding cassette
            (ABC) transporter superfamily. ATP-binding cassette proteins
            transport various molecules across extra- and intracellular
            membranes. The protein encoded by this gene displays antiviral
            effect against flaviviruses. Alternatively spliced transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, May 2017].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC009253.2, AK002060.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000429586.7/ ENSP00000411471.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..709
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.1"
     Protein         1..709
                     /product="ATP-binding cassette sub-family F member 3
                     isoform 1"
                     /note="ATP-binding cassette sub-family F member 3;
                     ATP-binding cassette, sub-family F (GCN20), member 3"
                     /calculated_mol_wt=79614
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9NUQ8.2)"
     Region          6..700
                     /region_name="PLN03073"
                     /note="ABC transporter F family; Provisional"
                     /db_xref="CDD:215558"
     Site            83
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NUQ8.2)"
     Region          129..171
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NUQ8.2)"
     Site            155
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NUQ8.2)"
     Site            157
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NUQ8.2)"
     Site            161
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NUQ8.2)"
     Site            283
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NUQ8.2)"
     CDS             1..709
                     /gene="ABCF3"
                     /gene_synonym="EST201864"
                     /coded_by="NM_018358.3:10..2139"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS3254.1"
                     /db_xref="GeneID:55324"
                     /db_xref="HGNC:HGNC:72"
                     /db_xref="MIM:618967"
ORIGIN      
        1 matcaeilrs efpeidgqvf dyvtgvlhsg sadfesvddl veavgellqe vsgdskddag
       61 iravcqrmyn tlrlaepqsq gnsqvlldap iqlskiteny dcgtklpgll kreqsstvna
      121 kklekaearl kakqekrsek dtlktsnplv leeasasqag srkesrless gknksydvri
      181 enfdvsfgdr vllagadvnl awgrryglvg rnglgkttll kmlatrslrv pahisllhve
      241 qevagddtpa lqsvlesdsv redllrrere ltaqiaagra egseaaelae iyakleeiea
      301 dkaparasvi laglgftpkm qqqptrefsg gwrmrlalar alfarpdlll ldeptnmldv
      361 railwlenyl qtwpstilvv shdrnflnai atdiihlhsq rldgyrgdfe tfikskqerl
      421 lnqqreyeaq qqyrqhiqvf idrfrynanr asqvqsklkm leklpelkpv dkesevvmkf
      481 pdgfekfspp ilqldevdfy ydpkhvifsr lsvsadlesr icvvgengag kstmlklllg
      541 dlapvrgirh ahrnlkigyf sqhhveqldl nvsavellar kfpgrpeeey rhqlgrygis
      601 gelamrplas lsggqksrva faqmtmpcpn fyildeptnh ldmetiealg ralnnfrggv
      661 ilvshderfi rlvcrelwvc egggvtrveg gfdqyrallq eqfrregfl
//
LOCUS       NP_001077072            1446 aa            linear   PRI 26-MAR-2023
DEFINITION  protein patched homolog 1 isoform L' [Homo sapiens].
ACCESSION   NP_001077072
VERSION     NP_001077072.1
DBSOURCE    REFSEQ: accession NM_001083603.3
KEYWORDS    RefSeq; MANE Plus Clinical.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1446)
  AUTHORS   Ruan W, Chi D, Wang Y, Ma J and Huang Y.
  TITLE     Rs28446116 in PTCH1 is associated with non-syndromic cleft lip with
            or without palate in the Ningxia population, China
  JOURNAL   Arch Oral Biol 149, 105660 (2023)
   PUBMED   36870116
  REMARK    GeneRIF: Rs28446116 in PTCH1 is associated with non-syndromic cleft
            lip with or without palate in the Ningxia population, China.
REFERENCE   2  (residues 1 to 1446)
  AUTHORS   Yu P, Yang J and Zhang Y.
  TITLE     Identification and characterization of two novel PTCH1 splice
            variants
  JOURNAL   Biochem Biophys Res Commun 487 (1), 68-75 (2017)
   PUBMED   28390897
  REMARK    GeneRIF: Thus, our study clearly demonstrated the unique
            involvement of the two novel PTCH1 splice variants in HH signal
            transduction.
REFERENCE   3  (residues 1 to 1446)
  AUTHORS   Wu F, Zhang Y, Sun B, McMahon AP and Wang Y.
  TITLE     Hedgehog Signaling: From Basic Biology to Cancer Therapy
  JOURNAL   Cell Chem Biol 24 (3), 252-280 (2017)
   PUBMED   28286127
  REMARK    Review article
REFERENCE   4  (residues 1 to 1446)
  AUTHORS   Shimokawa T, Svard J, Heby-Henricson K, Teglund S, Toftgard R and
            Zaphiropoulos PG.
  TITLE     Distinct roles of first exon variants of the tumor-suppressor
            Patched1 in Hedgehog signaling
  JOURNAL   Oncogene 26 (34), 4889-4896 (2007)
   PUBMED   17310997
REFERENCE   5  (residues 1 to 1446)
  AUTHORS   Nagao K, Toyoda M, Takeuchi-Inoue K, Fujii K, Yamada M and
            Miyashita T.
  TITLE     Identification and characterization of multiple isoforms of a
            murine and human tumor suppressor, patched, having distinct first
            exons
  JOURNAL   Genomics 85 (4), 462-471 (2005)
   PUBMED   15780749
  REMARK    GeneRIF: Seven isoforms of human PTCH mRNA were identified.
REFERENCE   6  (residues 1 to 1446)
  AUTHORS   Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM,
            Quinn AG, Myers RM, Cox DR, Epstein EH Jr and Scott MP.
  TITLE     Human homolog of patched, a candidate gene for the basal cell nevus
            syndrome
  JOURNAL   Science 272 (5268), 1668-1671 (1996)
   PUBMED   8658145
REFERENCE   7  (residues 1 to 1446)
  AUTHORS   Hahn H, Christiansen J, Wicking C, Zaphiropoulos PG, Chidambaram A,
            Gerrard B, Vorechovsky I, Bale AE, Toftgard R, Dean M and
            Wainwright B.
  TITLE     A mammalian patched homolog is expressed in target tissues of sonic
            hedgehog and maps to a region associated with developmental
            abnormalities
  JOURNAL   J Biol Chem 271 (21), 12125-12128 (1996)
   PUBMED   8647801
REFERENCE   8  (residues 1 to 1446)
  AUTHORS   Muller,E. II and Hudgins,L.
  TITLE     9q22.3 Microdeletion - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21850767
REFERENCE   9  (residues 1 to 1446)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301702
REFERENCE   10 (residues 1 to 1446)
  AUTHORS   Evans,D.G. and Farndon,P.A.
  TITLE     Nevoid Basal Cell Carcinoma Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301330
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161729.27, AB189437.1,
            U59464.1, AB209495.1, BX117041.1, CR744004.1 and AI417736.1.
            
            Summary: This gene encodes a member of the patched family of
            proteins and a component of the hedgehog signaling pathway.
            Hedgehog signaling is important in embryonic development and
            tumorigenesis. The encoded protein is the receptor for the secreted
            hedgehog ligands, which include sonic hedgehog, indian hedgehog and
            desert hedgehog. Following binding by one of the hedgehog ligands,
            the encoded protein is trafficked away from the primary cilium,
            relieving inhibition of the G-protein-coupled receptor smoothened,
            which results in activation of downstream signaling. Mutations of
            this gene have been associated with basal cell nevus syndrome and
            holoprosencephaly. [provided by RefSeq, Aug 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.2337483.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000437951.6/ ENSP00000389744.2
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1446
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.32"
     Protein         1..1446
                     /product="protein patched homolog 1 isoform L'"
                     /note="protein patched homolog 1"
                     /calculated_mol_wt=160908
     Region          65..1205
                     /region_name="2A060602"
                     /note="The Eukaryotic (Putative) Sterol Transporter (EST)
                     Family; TIGR00918"
                     /db_xref="CDD:273338"
     Region          <1246..1368
                     /region_name="PHA03377"
                     /note="EBNA-3C; Provisional"
                     /db_xref="CDD:177614"
     CDS             1..1446
                     /gene="PTCH1"
                     /gene_synonym="BCNS; NBCCS; PTC; PTC1; PTCH"
                     /coded_by="NM_001083603.3:152..4492"
                     /note="isoform L' is encoded by transcript variant 1a'"
                     /db_xref="CCDS:CCDS47995.1"
                     /db_xref="GeneID:5727"
                     /db_xref="HGNC:HGNC:9585"
                     /db_xref="MIM:601309"
ORIGIN      
        1 mellnrnrlv ivsprctppk asggparrgf ytfrsfckdg gggeeeeeng geekddrgdk
       61 etrsdkgkat grkaplwlra kfqrllfklg cyiqkncgkf lvvgllifga favglkaanl
      121 etnveelwve vggrvsreln ytrqkigeea mfnpqlmiqt pkeeganvlt teallqhlds
      181 alqasrvhvy mynrqwkleh lcyksgelit etgymdqiie ylypcliitp ldcfwegakl
      241 qsgtayllgk pplrwtnfdp lefleelkki nyqvdsweem lnkaevghgy mdrpclnpad
      301 pdcpatapnk nstkpldmal vlnggchgls rkymhwqeel ivggtvknst gklvsahalq
      361 tmfqlmtpkq myehfkgyey vshinwnedk aaaileawqr tyvevvhqsv aqnstqkvls
      421 fttttlddil ksfsdvsvir vasgyllmla yacltmlrwd csksqgavgl agvllvalsv
      481 aaglglcsli gisfnaattq vlpflalgvg vddvfllaha fsetgqnkri pfedrtgecl
      541 krtgasvalt sisnvtaffm aalipipalr afslqaavvv vfnfamvlli fpailsmdly
      601 rredrrldif ccftspcvsr viqvepqayt dthdntrysp pppysshsfa hetqitmqst
      661 vqlrteydph thvyyttaep rseisvqpvt vtqdtlscqs pestsstrdl lsqfsdsslh
      721 cleppctkwt lssfaekhya pfllkpkakv vviflflgll gvslygttrv rdgldltdiv
      781 pretreydfi aaqfkyfsfy nmyivtqkad ypniqhllyd lhrsfsnvky vmleenkqlp
      841 kmwlhyfrdw lqglqdafds dwetgkimpn nykngsddgv laykllvqtg srdkpidisq
      901 ltkqrlvdad giinpsafyi yltawvsndp vayaasqani rphrpewvhd kadympetrl
      961 ripaaepiey aqfpfylngl rdtsdfveai ekvrticsny tslglssypn gypflfweqy
     1021 iglrhwlllf isvvlactfl vcavfllnpw tagiivmvla lmtvelfgmm gligiklsav
     1081 pvviliasvg igveftvhva lafltaigdk nrravlaleh mfapvldgav stllgvlmla
     1141 gsefdfivry ffavlailti lgvlnglvll pvllsffgpy pevspangln rlptpspepp
     1201 psvvrfampp ghthsgsdss dseyssqttv sglseelrhy eaqqgaggpa hqviveaten
     1261 pvfahstvvh pesrhhppsn prqqphldsg slppgrqgqq prrdppregl wpppyrprrd
     1321 afeisteghs gpsnrarwgp rgarshnprn pastamgssv pgycqpittv tasasvtvav
     1381 hpppvpgpgr nprgglcpgy petdhglfed phvpfhvrce rrdskvevie lqdveceerp
     1441 rgsssn
//
LOCUS       NP_001354603             851 aa            linear   PRI 10-APR-2023
DEFINITION  SUN domain-containing protein 1 isoform kk [Homo sapiens].
ACCESSION   NP_001354603
VERSION     NP_001354603.1
DBSOURCE    REFSEQ: accession NM_001367674.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 851)
  AUTHORS   Meng Q, Shao B, Zhao D, Fu X, Wang J, Li H, Zhou Q and Gao T.
  TITLE     Loss of SUN1 function in spermatocytes disrupts the attachment of
            telomeres to the nuclear envelope and contributes to
            non-obstructive azoospermia in humans
  JOURNAL   Hum Genet 142 (4), 531-541 (2023)
   PUBMED   36933034
  REMARK    GeneRIF: Loss of SUN1 function in spermatocytes disrupts the
            attachment of telomeres to the nuclear envelope and contributes to
            non-obstructive azoospermia in humans.
REFERENCE   2  (residues 1 to 851)
  AUTHORS   Wu H, Zhang X, Hua R, Li Y, Cheng L, Li K, Liu Y, Gao Y, Shen Q,
            Wang G, Lv M, Xu Y, He X, Cao Y and Liu M.
  TITLE     Homozygous missense mutation in CCDC155 disrupts the transmembrane
            distribution of CCDC155 and SUN1, resulting in non-obstructive
            azoospermia and premature ovarian insufficiency in humans
  JOURNAL   Hum Genet 141 (11), 1795-1809 (2022)
   PUBMED   35587281
  REMARK    GeneRIF: Homozygous missense mutation in CCDC155 disrupts the
            transmembrane distribution of CCDC155 and SUN1, resulting in
            non-obstructive azoospermia and premature ovarian insufficiency in
            humans.
REFERENCE   3  (residues 1 to 851)
  AUTHORS   Persaud M, Selyutina A, Buffone C, Opp S, Donahue DA, Schwartz O
            and Diaz-Griffero F.
  TITLE     Nuclear restriction of HIV-1 infection by SUN1
  JOURNAL   Sci Rep 11 (1), 19128 (2021)
   PUBMED   34580332
  REMARK    GeneRIF: Nuclear restriction of HIV-1 infection by SUN1.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 851)
  AUTHORS   Chen Y, Wang Y, Chen J, Zuo W, Fan Y, Huang S, Liu Y, Chen G, Li Q,
            Li J, Wu J, Bian Q, Huang C and Lei M.
  TITLE     The SUN1-SPDYA interaction plays an essential role in meiosis
            prophase I
  JOURNAL   Nat Commun 12 (1), 3176 (2021)
   PUBMED   34039995
  REMARK    GeneRIF: The SUN1-SPDYA interaction plays an essential role in
            meiosis prophase I.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 851)
  AUTHORS   Hieda M, Matsumoto T, Isobe M, Kurono S, Yuka K, Kametaka S, Wang
            JY, Chi YH, Kameda K, Kimura H, Matsuura N and Matsuura S.
  TITLE     The SUN2-nesprin-2 LINC complex and KIF20A function in the Golgi
            dispersal
  JOURNAL   Sci Rep 11 (1), 5358 (2021)
   PUBMED   33686165
  REMARK    GeneRIF: The SUN2-nesprin-2 LINC complex and KIF20A function in the
            Golgi dispersal.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 851)
  AUTHORS   Crisp M, Liu Q, Roux K, Rattner JB, Shanahan C, Burke B, Stahl PD
            and Hodzic D.
  TITLE     Coupling of the nucleus and cytoplasm: role of the LINC complex
  JOURNAL   J Cell Biol 172 (1), 41-53 (2006)
   PUBMED   16380439
REFERENCE   7  (residues 1 to 851)
  AUTHORS   Padmakumar VC, Libotte T, Lu W, Zaim H, Abraham S, Noegel AA,
            Gotzmann J, Foisner R and Karakesisoglou I.
  TITLE     The inner nuclear membrane protein Sun1 mediates the anchorage of
            Nesprin-2 to the nuclear envelope
  JOURNAL   J Cell Sci 118 (Pt 15), 3419-3430 (2005)
   PUBMED   16079285
  REMARK    GeneRIF: The Sun1 itself does not require functional A-type lamins
            for its localisation at the inner nuclear membrane in mammalian
            cells.
REFERENCE   8  (residues 1 to 851)
  AUTHORS   Bray JD, Chennathukuzhi VM and Hecht NB.
  TITLE     Identification and characterization of cDNAs encoding four novel
            proteins that interact with translin associated factor-X
  JOURNAL   Genomics 79 (6), 799-808 (2002)
   PUBMED   12036294
  REMARK    GeneRIF: Isolation of a cDNA encoding a mouse homolog of the human
            SUN1 (UNC84A) gene.
REFERENCE   9  (residues 1 to 851)
  AUTHORS   Dreger M, Bengtsson L, Schoneberg T, Otto H and Hucho F.
  TITLE     Nuclear envelope proteomics: novel integral membrane proteins of
            the inner nuclear membrane
  JOURNAL   Proc Natl Acad Sci U S A 98 (21), 11943-11948 (2001)
   PUBMED   11593002
  REMARK    GeneRIF: KIAA0810 is a novel 100-kDa transmembrane protein with
            similarity to Caenorhabditis elegans Unc-84A and resides in the
            inner nuclear membrane. It is likely to interact with the nuclear
            lamina.
REFERENCE   10 (residues 1 to 851)
  AUTHORS   Malone CJ, Fixsen WD, Horvitz HR and Han M.
  TITLE     UNC-84 localizes to the nuclear envelope and is required for
            nuclear migration and anchoring during C. elegans development
  JOURNAL   Development 126 (14), 3171-3181 (1999)
   PUBMED   10375507
  REMARK    GeneRIF: Describes cloning and function of C. elegans unc-84 and
            cloning of human orthologs.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099731.5.
            
            Summary: This gene is a member of the unc-84 homolog family and
            encodes a nuclear envelope protein with an Unc84 (SUN) domain. The
            protein is involved in nuclear anchorage and migration.
            Alternatively spliced transcript variants have been described.
            [provided by RefSeq, Jan 2019].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.54977.1,
                                           SRR1660807.259098.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..851
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     Protein         1..851
                     /product="SUN domain-containing protein 1 isoform kk"
                     /note="Sad1 unc-84 domain protein 1; protein unc-84
                     homolog A; SUN domain-containing protein 1; sad1/unc-84
                     protein-like 1"
                     /calculated_mol_wt=94626
     Region          62..357
                     /region_name="MRP"
                     /note="Mitochondrial RNA binding protein MRP; pfam09387"
                     /db_xref="CDD:430576"
     Region          <432..626
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          483..536
                     /region_name="SUN1_cc1"
                     /note="coiled-coil domain 1 of SUN domain-containing
                     protein 1 and similar proteins; cd21439"
                     /db_xref="CDD:410605"
     Site            order(483,486..487,490,493..494,497..498,500..501,
                     504..505,507..508,511..512,514..515,518,521..522,525,
                     528..529,532..533,535..536)
                     /site_type="other"
                     /note="putative trimer interface [polypeptide binding]"
                     /db_xref="CDD:410605"
     Region          613..671
                     /region_name="Sun2_CC2"
                     /note="SUN2 coiled coil domain 2; pfam18580"
                     /db_xref="CDD:436594"
     Region          714..849
                     /region_name="Sad1_UNC"
                     /note="Sad1 / UNC-like C-terminal; pfam07738"
                     /db_xref="CDD:400199"
     CDS             1..851
                     /gene="SUN1"
                     /gene_synonym="UNC84A"
                     /coded_by="NM_001367674.1:52..2607"
                     /note="isoform kk is encoded by transcript variant 37"
                     /db_xref="GeneID:23353"
                     /db_xref="HGNC:HGNC:18587"
                     /db_xref="MIM:607723"
ORIGIN      
        1 mdfsrlhmys ppqcvpentg ytyalsssys sdaldfeteh kldpvfdspr msrrslrlat
       61 tactlgdgea vgadsgtssa vslknraart tkqrrstnks afsinhvsrq vtssgvshgg
      121 tvslqdavtr rppvldeswi reqttvdhfw gldddgdlkg gnkaaiqgng dvgaaaatah
      181 ngfscsncsm lserkdvlta hpaapgpvsr vysrdrnqkc gasfyvnril wlarytassf
      241 ssflvqlfqv vlmklsyese nyklkthesk dcesesyksk sheskgyfll qilrrigavg
      301 qavsrtawsa lwlavvapgk aasgvfwwlg igwyqfvtli swlnvflltr clrnickflv
      361 lliplfllla glslrgqgnf fsflpvlnwa smhrtqrvdd pqdvfkptts rlkqplqgds
      421 eafpwhwmsg veqqvaslsg qchhhgenlr elttllqklq arvdqmegga agpsasvrda
      481 vgqppretdf mafhqehevr mshledilgk lrekseaiqk eleqtkqkti savgeqllpt
      541 vehlqleldq lkselsswrh vktgcetvda vqervdvqvr emvkllfsed qqggsleqll
      601 qrfssqfvsk gdlqtmlrdl qlqilrnvth hvsvtkqlpt seavvsavse agasgiteaq
      661 araivnsalk lysqdktgmv dfalesgggs ilstrcsety etktalmslf giplwyfsqs
      721 prvviqpdiy pgncwafkgs qgylvvrlsm mihpaaftle hipktlsptg nissapkdfa
      781 vygleneyqe egqllgqfty dqdgeslqmf qalkrpddta fqivelrifs nwghpeytcl
      841 yrfrvhgepv k
//
LOCUS       NP_001307857             719 aa            linear   PRI 17-APR-2023
DEFINITION  inhibitor of nuclear factor kappa-B kinase subunit alpha isoform 2
            [Homo sapiens].
ACCESSION   NP_001307857 XP_011537499
VERSION     NP_001307857.1
DBSOURCE    REFSEQ: accession NM_001320928.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 719)
  AUTHORS   Gao J and Zhu L.
  TITLE     IKKalpha kinase silencing increases doxorubicin-induced apoptosis
            through regulation of oxidative DNA damage response in colon cancer
            cells
  JOURNAL   Chem Biol Drug Des 101 (5), 1089-1095 (2023)
   PUBMED   36515432
  REMARK    GeneRIF: IKKalpha kinase silencing increases doxorubicin-induced
            apoptosis through regulation of oxidative DNA damage response in
            colon cancer cells.
REFERENCE   2  (residues 1 to 719)
  AUTHORS   Stephenson AA, Taggart DJ, Xu G, Fowler JD, Wu H and Suo Z.
  TITLE     The inhibitor of kappaB kinase beta (IKKbeta) phosphorylates
            IkappaBalpha twice in a single binding event through a sequential
            mechanism
  JOURNAL   J Biol Chem 299 (1), 102796 (2023)
   PUBMED   36528060
  REMARK    GeneRIF: The inhibitor of kappaB kinase beta (IKKbeta)
            phosphorylates IkappaBalpha twice in a single binding event through
            a sequential mechanism.
REFERENCE   3  (residues 1 to 719)
  AUTHORS   Patel M, Pennel KAF, Quinn JA, Hood H, Chang DK, Biankin AV, Rebus
            S, Roseweir AK, Park JH, Horgan PG, McMillan DC and Edwards J.
  TITLE     Spatial expression of IKK-alpha is associated with a differential
            mutational landscape and survival in primary colorectal cancer
  JOURNAL   Br J Cancer 126 (12), 1704-1714 (2022)
   PUBMED   35173303
  REMARK    GeneRIF: Spatial expression of IKK-alpha is associated with a
            differential mutational landscape and survival in primary
            colorectal cancer.
REFERENCE   4  (residues 1 to 719)
  AUTHORS   Prescott JA, Balmanno K, Mitchell JP, Okkenhaug H and Cook SJ.
  TITLE     IKKalpha plays a major role in canonical NF-kappaB signalling in
            colorectal cells
  JOURNAL   Biochem J 479 (3), 305-325 (2022)
   PUBMED   35029639
  REMARK    GeneRIF: IKKalpha plays a major role in canonical NF-kappaB
            signalling in colorectal cells.
REFERENCE   5  (residues 1 to 719)
  AUTHORS   Wang H, Zhang M, Xu X, Hou S, Liu Z, Chen X, Zhang C, Xu H, Wu L,
            Liu K and Song L.
  TITLE     IKKalpha mediates UVB-induced cell apoptosis by regulating p53
            pathway activation
  JOURNAL   Ecotoxicol Environ Saf 227, 112892 (2021)
   PUBMED   34649141
  REMARK    GeneRIF: IKKalpha mediates UVB-induced cell apoptosis by regulating
            p53 pathway activation.
REFERENCE   6  (residues 1 to 719)
  AUTHORS   DiDonato JA, Hayakawa M, Rothwarf DM, Zandi E and Karin M.
  TITLE     A cytokine-responsive IkappaB kinase that activates the
            transcription factor NF-kappaB
  JOURNAL   Nature 388 (6642), 548-554 (1997)
   PUBMED   9252186
REFERENCE   7  (residues 1 to 719)
  AUTHORS   Regnier CH, Song HY, Gao X, Goeddel DV, Cao Z and Rothe M.
  TITLE     Identification and characterization of an IkappaB kinase
  JOURNAL   Cell 90 (2), 373-383 (1997)
   PUBMED   9244310
REFERENCE   8  (residues 1 to 719)
  AUTHORS   Mock BA, Connelly MA, McBride OW, Kozak CA and Marcu KB.
  TITLE     CHUK, a conserved helix-loop-helix ubiquitous kinase, maps to human
            chromosome 10 and mouse chromosome 19
  JOURNAL   Genomics 27 (2), 348-351 (1995)
   PUBMED   7558004
REFERENCE   9  (residues 1 to 719)
  AUTHORS   Connelly MA and Marcu KB.
  TITLE     CHUK, a new member of the helix-loop-helix and leucine zipper
            families of interacting proteins, contains a serine-threonine
            kinase catalytic domain
  JOURNAL   Cell Mol Biol Res 41 (6), 537-549 (1995)
   PUBMED   8777433
REFERENCE   10 (residues 1 to 719)
  AUTHORS   Ganchi PA, Sun SC, Greene WC and Ballard DW.
  TITLE     A novel NF-kappa B complex containing p65 homodimers: implications
            for transcriptional control at the level of subunit dimerization
  JOURNAL   Mol Cell Biol 13 (12), 7826-7835 (1993)
   PUBMED   8246997
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA405845.1, AL138921.14 and
            AI829429.1.
            On Mar 10, 2016 this sequence version replaced XP_011537499.1.
            
            Summary: This gene encodes a member of the serine/threonine protein
            kinase family. The encoded protein, a component of a
            cytokine-activated protein complex that is an inhibitor of the
            essential transcription factor NF-kappa-B complex, phosphorylates
            sites that trigger the degradation of the inhibitor via the
            ubiquination pathway, thereby activating the transcription factor.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.4216.1,
                                           SRR1803614.198045.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..719
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     Protein         1..719
                     /product="inhibitor of nuclear factor kappa-B kinase
                     subunit alpha isoform 2"
                     /EC_number="2.7.11.10"
                     /note="I-kappa-B kinase-alpha; I-kappa-B kinase 1; Nuclear
                     factor NFkappaB inhibitor kinase alpha; IKK-a kinase; IkB
                     kinase alpha subunit; inhibitor of nuclear factor kappa-B
                     kinase subunit alpha; conserved helix-loop-helix
                     ubiquitous kinase; TCF-16; transcription factor 16"
                     /calculated_mol_wt=81882
     Region          21..309
                     /region_name="STKc_IKK_alpha"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Inhibitor of Nuclear Factor-KappaB Kinase (IKK) alpha;
                     cd14039"
                     /db_xref="CDD:270941"
     Site            order(21..25,29,42,44,74,95..98,102,104,144,146,148..149,
                     151,165,168,183..186)
                     /site_type="active"
                     /db_xref="CDD:270941"
     Site            order(21..25,29,42,44,74,95..98,102,144,146,148..149,151,
                     165)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270941"
     Site            23
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PKB/AKT1 and SGK1.
                     /evidence=ECO:0000269|PubMed:10485710,
                     ECO:0000269|PubMed:19088076; propagated from
                     UniProtKB/Swiss-Prot (O15111.2)"
     Site            order(25,102,104,144,146,148,168,183..186)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270941"
     Site            order(108,110,114,117,218,223,251..252,254,260..263)
                     /site_type="other"
                     /note="putative SDD interface [polypeptide binding]"
                     /db_xref="CDD:270941"
     Site            164..186
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270941"
     Site            176
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAP3K14.
                     /evidence=ECO:0000269|PubMed:9520446; propagated from
                     UniProtKB/Swiss-Prot (O15111.2)"
     Site            179
                     /site_type="acetylation"
                     /note="(Microbial infection) O-acetylthreonine, by
                     Yersinia YopJ. /evidence=ECO:0000269|PubMed:17116858;
                     propagated from UniProtKB/Swiss-Prot (O15111.2)"
     Site            180
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by SGK1.
                     /evidence=ECO:0000269|PubMed:19088076; propagated from
                     UniProtKB/Swiss-Prot (O15111.2)"
     Region          311..387
                     /region_name="Ubl_IKKA_like"
                     /note="ubiquitin-like (Ubl) domain found in inhibitor of
                     nuclear factor kappa-B kinases, IKK-alpha and IKK-beta,
                     and similar proteins; cd17046"
                     /db_xref="CDD:340566"
     Site            338
                     /site_type="other"
                     /note="key conserved lysine K27"
                     /db_xref="CDD:340566"
     Region          386..659
                     /region_name="IKBKB_SDD"
                     /note="IQBAL scaffold dimerization domain; pfam18397"
                     /db_xref="CDD:436466"
     Region          455..476
                     /region_name="Leucine-zipper"
                     /note="propagated from UniProtKB/Swiss-Prot (O15111.2)"
     CDS             1..719
                     /gene="CHUK"
                     /gene_synonym="BPS2; IKBKA; IKK-alpha; IKK1; IKKA;
                     NFKBIKA; TCF16"
                     /coded_by="NM_001320928.2:65..2224"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:1147"
                     /db_xref="HGNC:HGNC:1974"
                     /db_xref="MIM:600664"
ORIGIN      
        1 merppglrpg aggpwemrer lgtggfgnvc lyqhreldlk iaikscrlel stknrerwch
       61 eiqimkklnh anvvkacdvp eelnilihdv pllameycsg gdlrkllnkp enccglkesq
      121 ilsllsdigs girylhenki ihrdlkpeni vlqdvggkii hkiidlgyak dvdqgslcts
      181 fvgtlqylap elfenkpyta tvdywsfgtm vfeciagyrp flhhlqpftw hekikkkdpk
      241 cifaceemsg evrfsshlpq pnslcslvve pmenwlqlml nwdpqqrggp vdltlkqprc
      301 fvlmdhilnl kivhilnmts akiisfllpp deslhslqsr ieretgintg sqellsetgi
      361 sldprkpasq cvldgvrgcd symvylfdks ktvyegpfas rslsdcvnyi vqdskiqlpi
      421 iqlrkvwaea vhyvsglked ysrlfqgqra amlsllryna nltkmkntli sasqqlkakl
      481 effhksiqld leryseqmty gissekmlka wkemeekaih yaevgvigyl edqimslhae
      541 imelqkspyg rrqgdlmesl eqraidlykq lkhrpsdhsy sdstemvkii vhtvqsqdrv
      601 lkelfghlsk llgckqkiid llpkvevals nikeadntvm fmqgkrqkei whllkiactq
      661 ssarslvgss legavtpqts awlpptsaeh dhslscvgdf stndrrkfel pwpfkhyys
//
LOCUS       NP_006536                380 aa            linear   PRI 14-DEC-2022
DEFINITION  GATOR complex protein NPRL2 [Homo sapiens].
ACCESSION   NP_006536
VERSION     NP_006536.3
DBSOURCE    REFSEQ: accession NM_006545.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 380)
  AUTHORS   Wang YC, Tsai MC, Chen YS, Hsieh PM, Hung CM, Lin HY, Hsu YC, Yeh
            JH, Hsiao P, Su YC, Ma CH, Lee CY, Lin CC, Shu CW, Li YC, Tsai MH,
            Lin JY, Peng WH, Yu ML and Lin CW.
  TITLE     NPRL2 down-regulation facilitates the growth of hepatocellular
            carcinoma via the mTOR pathway and autophagy suppression
  JOURNAL   Hepatol Commun 6 (12), 3563-3577 (2022)
   PUBMED   36321403
  REMARK    GeneRIF: NPRL2 down-regulation facilitates the growth of
            hepatocellular carcinoma via the mTOR pathway and autophagy
            suppression.
REFERENCE   2  (residues 1 to 380)
  AUTHORS   Zhou X, Chen FY, Ye XG and Liu ZG.
  TITLE     Nitrogen Permease Regulator Like-2 (NPRL2) truncating mutation
            causes Ohtahara syndrome with incomplete penetrance: expanding the
            genotype-phenotype correlations
  JOURNAL   Clin Dysmorphol 31 (4), 181-184 (2022)
   PUBMED   35731010
  REMARK    GeneRIF: Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating
            mutation causes Ohtahara syndrome with incomplete penetrance:
            expanding the genotype-phenotype correlations.
REFERENCE   3  (residues 1 to 380)
  AUTHORS   Zhang J, Shen Y, Yang Z, Yang F, Li Y, Yu B, Chen W and Gan J.
  TITLE     A splicing variation in NPRL2 causing familial focal epilepsy with
            variable foci: additional cases and literature review
  JOURNAL   J Hum Genet 67 (2), 79-85 (2022)
   PUBMED   34376795
  REMARK    GeneRIF: A splicing variation in NPRL2 causing familial focal
            epilepsy with variable foci: additional cases and literature
            review.
            Review article
REFERENCE   4  (residues 1 to 380)
  AUTHORS   Tang Y, Jiang L, Zhao X, Hu D, Zhao G, Luo S, Du X and Tang W.
  TITLE     FOXO1 inhibits prostate cancer cell proliferation via suppressing
            E2F1 activated NPRL2 expression
  JOURNAL   Cell Biol Int 45 (12), 2510-2520 (2021)
   PUBMED   34459063
  REMARK    GeneRIF: FOXO1 inhibits prostate cancer cell proliferation via
            suppressing E2F1 activated NPRL2 expression.
REFERENCE   5  (residues 1 to 380)
  AUTHORS   Zhao X, Jiang L, Hu D, Tang Y, Zhao G, Du X, Luo S and Tang W.
  TITLE     NPRL2 reduces the niraparib sensitivity of castration-resistant
            prostate cancer via interacting with UBE2M and enhancing
            neddylation
  JOURNAL   Exp Cell Res 403 (2), 112614 (2021)
   PUBMED   33905671
  REMARK    GeneRIF: NPRL2 reduces the niraparib sensitivity of
            castration-resistant prostate cancer via interacting with UBE2M and
            enhancing neddylation.
REFERENCE   6  (residues 1 to 380)
  AUTHORS   Ueda K, Kawashima H, Ohtani S, Deng WG, Ravoori M, Bankson J, Gao
            B, Girard L, Minna JD, Roth JA, Kundra V and Ji L.
  TITLE     The 3p21.3 tumor suppressor NPRL2 plays an important role in
            cisplatin-induced resistance in human non-small-cell lung cancer
            cells
  JOURNAL   Cancer Res 66 (19), 9682-9690 (2006)
   PUBMED   17018626
  REMARK    GeneRIF: Expression of NPRL2 was significantly and reciprocally
            correlated to cisplatin sensitivity.
REFERENCE   7  (residues 1 to 380)
  AUTHORS   Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ,
            Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris
            RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM,
            Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A,
            Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ,
            Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang
            Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z,
            Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C,
            Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay
            ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X,
            Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M,
            Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV,
            Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper
            FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez
            J, Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L,
            Wang J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang
            X, Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor
            SL, Yang H, Olson M, Weinstock G and Gibbs RA.
  TITLE     The DNA sequence, annotation and analysis of human chromosome 3
  JOURNAL   Nature 440 (7088), 1194-1198 (2006)
   PUBMED   16641997
REFERENCE   8  (residues 1 to 380)
  AUTHORS   Li J, Wang F, Haraldson K, Protopopov A, Duh FM, Geil L, Kuzmin I,
            Minna JD, Stanbridge E, Braga E, Kashuba VI, Klein G, Lerman MI and
            Zabarovsky ER.
  TITLE     Functional characterization of the candidate tumor suppressor gene
            NPRL2/G21 located in 3p21.3C
  JOURNAL   Cancer Res 64 (18), 6438-6443 (2004)
   PUBMED   15374952
  REMARK    GeneRIF: NPRL2 is a multiple tumor suppressor gene.
REFERENCE   9  (residues 1 to 380)
  AUTHORS   Ji L, Nishizaki M, Gao B, Burbee D, Kondo M, Kamibayashi C, Xu K,
            Yen N, Atkinson EN, Fang B, Lerman MI, Roth JA and Minna JD.
  TITLE     Expression of several genes in the human chromosome 3p21.3
            homozygous deletion region by an adenovirus vector results in tumor
            suppressor activities in vitro and in vivo
  JOURNAL   Cancer Res 62 (9), 2715-2720 (2002)
   PUBMED   11980673
REFERENCE   10 (residues 1 to 380)
  AUTHORS   Lerman MI and Minna JD.
  TITLE     The 630-kb lung cancer homozygous deletion region on human
            chromosome 3p21.3: identification and evaluation of the resident
            candidate tumor suppressor genes. The International Lung Cancer
            Chromosome 3p21.3 Tumor Suppressor Gene Consortium
  JOURNAL   Cancer Res 60 (21), 6116-6133 (2000)
   PUBMED   11085536
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC008802.2, BC056861.1 and AC002481.1.
            On Jul 26, 2004 this sequence version replaced NP_006536.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC056861.1, AF040707.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000232501.8/ ENSP00000232501.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..380
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..380
                     /product="GATOR complex protein NPRL2"
                     /note="tumor suppressor candidate 4; 2810446G01Rik;
                     nitrogen permease regulator 2-like protein; homologous to
                     yeast nitrogen permease (candidate tumor suppressor); G21
                     protein; gene 21 protein; NPR2-like protein"
                     /calculated_mol_wt=43528
     Region          1..133
                     /region_name="Interaction with PDPK1.
                     /evidence=ECO:0000269|PubMed:18616680"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WTW4.2)"
     Region          7..370
                     /region_name="NPR3"
                     /note="Nitrogen Permease regulator of amino acid transport
                     activity 3; cl24021"
                     /db_xref="CDD:451662"
     CDS             1..380
                     /gene="NPRL2"
                     /gene_synonym="FFEVF2; NPR2; NPR2L; TUSC4"
                     /coded_by="NM_006545.5:124..1266"
                     /db_xref="CCDS:CCDS2826.1"
                     /db_xref="GeneID:10641"
                     /db_xref="HGNC:HGNC:24969"
                     /db_xref="MIM:607072"
ORIGIN      
        1 mgsgcrieci ffsefhptlg pkityqvped fisrelfdtv qvyiitkpel qnklitvtam
       61 ekkligcpvc iehkkysrna llfnlgfvcd aqaktcalep ivkklagylt tlelessfvs
      121 meeskqklvp imtilleeln asgrctlpid esntihlkvi eqrpdppvaq eydvpvftkd
      181 kedffnsqwd lttqqilpyi dgfrhiqkis aeadvelnlv riaiqnllyy gvvtlvsilq
      241 ysnvycptpk vqdlvddksl qeaclsyvtk qghkraslrd vfqlycslsp gttvrdligr
      301 hpqqlqhvde rkliqfglmk nlirrlqkyp vrvtreeqsh parlytgchs ydeiccktgm
      361 syhelderle ndpniiicwk
//
LOCUS       NP_817125                140 aa            linear   PRI 17-DEC-2022
DEFINITION  39S ribosomal protein L47, mitochondrial isoform b [Homo sapiens].
ACCESSION   NP_817125
VERSION     NP_817125.1
DBSOURCE    REFSEQ: accession NM_177988.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 140)
  AUTHORS   Fasci D, van Ingen H, Scheltema RA and Heck AJR.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   2  (residues 1 to 140)
  AUTHORS   Liu X, Salokas K, Tamene F, Jiu Y, Weldatsadik RG, Ohman T and
            Varjosalo M.
  TITLE     An AP-MS- and BioID-compatible MAC-tag enables comprehensive
            mapping of protein interactions and subcellular localizations
  JOURNAL   Nat Commun 9 (1), 1188 (2018)
   PUBMED   29568061
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 140)
  AUTHORS   Brown A, Rathore S, Kimanius D, Aibara S, Bai XC, Rorbach J, Amunts
            A and Ramakrishnan V.
  TITLE     Structures of the human mitochondrial ribosome in native states of
            assembly
  JOURNAL   Nat Struct Mol Biol 24 (10), 866-869 (2017)
   PUBMED   28892042
REFERENCE   4  (residues 1 to 140)
  AUTHORS   Greber BJ and Ban N.
  TITLE     Structure and Function of the Mitochondrial Ribosome
  JOURNAL   Annu Rev Biochem 85, 103-132 (2016)
   PUBMED   27023846
  REMARK    Review article
REFERENCE   5  (residues 1 to 140)
  AUTHORS   Brown A, Amunts A, Bai XC, Sugimoto Y, Edwards PC, Murshudov G,
            Scheres SHW and Ramakrishnan V.
  TITLE     Structure of the large ribosomal subunit from human mitochondria
  JOURNAL   Science 346 (6210), 718-722 (2014)
   PUBMED   25278503
REFERENCE   6  (residues 1 to 140)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 140)
  AUTHORS   Zhang Z and Gerstein M.
  TITLE     Identification and characterization of over 100 mitochondrial
            ribosomal protein pseudogenes in the human genome
  JOURNAL   Genomics 81 (5), 468-480 (2003)
   PUBMED   12706105
REFERENCE   8  (residues 1 to 140)
  AUTHORS   O'Brien TW.
  TITLE     Evolution of a protein-rich mitochondrial ribosome: implications
            for human genetic disease
  JOURNAL   Gene 286 (1), 73-79 (2002)
   PUBMED   11943462
REFERENCE   9  (residues 1 to 140)
  AUTHORS   Koc EC, Burkhart W, Blackburn K, Moyer MB, Schlatzer DM, Moseley A
            and Spremulli LL.
  TITLE     The large subunit of the mammalian mitochondrial ribosome. Analysis
            of the complement of ribosomal proteins present
  JOURNAL   J Biol Chem 276 (47), 43958-43969 (2001)
   PUBMED   11551941
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC021575.1 and BC032522.1.
            
            Summary: Mammalian mitochondrial ribosomal proteins are encoded by
            nuclear genes and help in protein synthesis within the
            mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a
            small 28S subunit and a large 39S subunit. They have an estimated
            75% protein to rRNA composition compared to prokaryotic ribosomes,
            where this ratio is reversed. Another difference between mammalian
            mitoribosomes and prokaryotic ribosomes is that the latter contain
            a 5S rRNA. Among different species, the proteins comprising the
            mitoribosome differ greatly in sequence, and sometimes in
            biochemical properties, which prevents easy recognition by sequence
            homology. This gene encodes a 39S subunit protein. This gene is
            immediately adjacent to the gene for BAF complex 53 kDa subunit
            protein a (BAF53a), in a tail-to-tail orientation. Two transcript
            variants encoding different protein isoforms have been identified.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an alternate segment,
            compared to variant 1, which leads to the use of a downstream start
            codon. The predicted protein (isoform b) is shorter than isoform a.
            The predicted ORF of this transcript has not been experimentally
            confirmed.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC021575.1, SRR1803611.381451.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..140
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.33"
     Protein         1..140
                     /product="39S ribosomal protein L47, mitochondrial isoform
                     b"
                     /note="39S ribosomal protein L47, mitochondrial;
                     nasopharyngeal carcinoma metastasis-related 1;
                     nasopharyngeal carcinoma metastasis-related protein 1;
                     mitochondrial large ribosomal subunit protein uL29m"
                     /calculated_mol_wt=16860
     Region          <1..39
                     /region_name="Ribosomal_L29_HIP"
                     /note="Ribosomal L29 protein/HIP. L29 is a protein of the
                     large ribosomal Subunit. A homolog, called heparin/heparan
                     sulfate interacting protein (HIP), has also been
                     identified in mammals. L29 is located on the surface of
                     the large ribosomal subunit, where it...; cl09943"
                     /db_xref="CDD:447868"
     CDS             1..140
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1"
                     /coded_by="NM_177988.1:207..629"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS3233.1"
                     /db_xref="GeneID:57129"
                     /db_xref="HGNC:HGNC:16652"
                     /db_xref="MIM:611852"
ORIGIN      
        1 mlltleqeak rqrlpmpspe rldkvvdsmd aldkvvqere dalrllqtgq erarpgawrr
       61 difgriiwhk fkqwvipwhl nkrynrkrff alpyvdhflr lerekrarik arkenlerkk
      121 akillkkfph laeaqksslv
//
LOCUS       NP_001265485             178 aa            linear   PRI 18-DEC-2022
DEFINITION  actin-related protein 2/3 complex subunit 3 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001265485 NP_005710
VERSION     NP_001265485.1
DBSOURCE    REFSEQ: accession NM_001278556.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 178)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 178)
  AUTHORS   Frentzas S, Simoneau E, Bridgeman VL, Vermeulen PB, Foo S, Kostaras
            E, Nathan M, Wotherspoon A, Gao ZH, Shi Y, Van den Eynden G, Daley
            F, Peckitt C, Tan X, Salman A, Lazaris A, Gazinska P, Berg TJ,
            Eltahir Z, Ritsma L, Van Rheenen J, Khashper A, Brown G, Nystrom H,
            Sund M, Van Laere S, Loyer E, Dirix L, Cunningham D, Metrakos P and
            Reynolds AR.
  TITLE     Vessel co-option mediates resistance to anti-angiogenic therapy in
            liver metastases
  JOURNAL   Nat Med 22 (11), 1294-1302 (2016)
   PUBMED   27748747
  REMARK    GeneRIF: Cancer cell motility mediated by the actin-related protein
            2/3 complex (Arp2/3) is required for vessel co-option in liver
            metastases in vivo.
REFERENCE   3  (residues 1 to 178)
  AUTHORS   Abella JV, Galloni C, Pernier J, Barry DJ, Kjaer S, Carlier MF and
            Way M.
  TITLE     Isoform diversity in the Arp2/3 complex determines actin filament
            dynamics
  JOURNAL   Nat Cell Biol 18 (1), 76-86 (2016)
   PUBMED   26655834
REFERENCE   4  (residues 1 to 178)
  AUTHORS   de Toro-Martin J, Guenard F, Tchernof A, Deshaies Y, Perusse L,
            Biron S, Lescelleur O, Biertho L, Marceau S and Vohl MC.
  TITLE     A CpG-SNP Located within the ARPC3 Gene Promoter Is Associated with
            Hypertriglyceridemia in Severely Obese Patients
  JOURNAL   Ann Nutr Metab 68 (3), 203-212 (2016)
   PUBMED   27055012
  REMARK    GeneRIF: genetic association study in population in Canada: Data
            suggest that an SNP in the promoter region of ARPC3 (CpG-SNP
            rs3759384 C>T) is associated with metabolic syndrome complicated by
            severe abdominal obesity and hypertriglyceridemia in the population
            studied.
REFERENCE   5  (residues 1 to 178)
  AUTHORS   Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB,
            Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G,
            Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J,
            Graslund S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ
            and Greenblatt J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
REFERENCE   6  (residues 1 to 178)
  AUTHORS   Zhao X, Yang Z, Qian M and Zhu X.
  TITLE     Interactions among subunits of human Arp2/3 complex: p20-Arc as the
            hub
  JOURNAL   Biochem Biophys Res Commun 280 (2), 513-517 (2001)
   PUBMED   11162547
REFERENCE   7  (residues 1 to 178)
  AUTHORS   Marchand JB, Kaiser DA, Pollard TD and Higgs HN.
  TITLE     Interaction of WASP/Scar proteins with actin and vertebrate Arp2/3
            complex
  JOURNAL   Nat Cell Biol 3 (1), 76-82 (2001)
   PUBMED   11146629
REFERENCE   8  (residues 1 to 178)
  AUTHORS   Machesky LM, Reeves E, Wientjes F, Mattheyse FJ, Grogan A, Totty
            NF, Burlingame AL, Hsuan JJ and Segal AW.
  TITLE     Mammalian actin-related protein 2/3 complex localizes to regions of
            lamellipodial protrusion and is composed of evolutionarily
            conserved proteins
  JOURNAL   Biochem J 328 (Pt 1) (Pt 1), 105-112 (1997)
   PUBMED   9359840
REFERENCE   9  (residues 1 to 178)
  AUTHORS   Welch MD, DePace AH, Verma S, Iwamatsu A and Mitchison TJ.
  TITLE     The human Arp2/3 complex is composed of evolutionarily conserved
            subunits and is localized to cellular regions of dynamic actin
            filament assembly
  JOURNAL   J Cell Biol 138 (2), 375-384 (1997)
   PUBMED   9230079
REFERENCE   10 (residues 1 to 178)
  AUTHORS   Welch MD, Iwamatsu A and Mitchison TJ.
  TITLE     Actin polymerization is induced by Arp2/3 protein complex at the
            surface of Listeria monocytogenes
  JOURNAL   Nature 385 (6613), 265-269 (1997)
   PUBMED   9000076
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF434378.1, BC067747.1,
            AI144468.1 and AC144548.8.
            On Dec 10, 2013 this sequence version replaced NP_005710.1.
            
            Summary: This gene encodes one of seven subunits of the human
            Arp2/3 protein complex. The Arp2/3 protein complex has been
            conserved through evolution and is implicated in the control of
            actin polymerization in cells. Alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Dec
            2013].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.121631.1,
                                           SRR5189658.196420.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000228825.12/ ENSP00000228825.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..178
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     Protein         1..178
                     /product="actin-related protein 2/3 complex subunit 3
                     isoform 1"
                     /note="ARP2/3 protein complex subunit p21; arp2/3 complex
                     21 kDa subunit; actin related protein 2/3 complex, subunit
                     3, 21kDa"
                     /calculated_mol_wt=20416
     Region          1..173
                     /region_name="P21-Arc"
                     /note="ARP2/3 complex ARPC3 (21 kDa) subunit; pfam04062"
                     /db_xref="CDD:427684"
     Site            47
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (O15145.3)"
     Site            56
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O15145.3)"
     Site            61
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O15145.3)"
     CDS             1..178
                     /gene="ARPC3"
                     /gene_synonym="ARC21; p21-Arc"
                     /coded_by="NM_001278556.2:78..614"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9146.1"
                     /db_xref="GeneID:10094"
                     /db_xref="HGNC:HGNC:706"
                     /db_xref="MIM:604225"
ORIGIN      
        1 mpayhsslmd pdtklignma llpirsqfkg papretkdtd ivdeaiyyfk anvffknyei
       61 kneadrtliy itlyiseclk klqkcnsksq gekemytlgi tnfpipgepg fplnaiyakp
      121 ankqedevmr aylqqlrqet glrlcekvfd pqndkpskww tcfvkrqfmn kslsgpgq
//
LOCUS       NP_005037                253 aa            linear   PRI 18-DEC-2022
DEFINITION  kallikrein-7 isoform 1 preproprotein [Homo sapiens].
ACCESSION   NP_005037
VERSION     NP_005037.1
DBSOURCE    REFSEQ: accession NM_005046.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 253)
  AUTHORS   Xiang F, Wang Y, Cao C, Li Q, Deng H, Zheng J, Liu X and Tan X.
  TITLE     The Role of Kallikrein 7 in Tumorigenesis
  JOURNAL   Curr Med Chem 29 (15), 2617-2631 (2022)
   PUBMED   34525904
  REMARK    GeneRIF: The Role of Kallikrein 7 in Tumorigenesis.
            Review article
REFERENCE   2  (residues 1 to 253)
  AUTHORS   Tian J, Wang V, Wang N, Khadang B, Boudreault J, Bakdounes K, Ali S
            and Lebrun JJ.
  TITLE     Identification of MFGE8 and KLK5/7 as mediators of breast
            tumorigenesis and resistance to COX-2 inhibition
  JOURNAL   Breast Cancer Res 23 (1), 23 (2021)
   PUBMED   33588911
  REMARK    GeneRIF: Identification of MFGE8 and KLK5/7 as mediators of breast
            tumorigenesis and resistance to COX-2 inhibition.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 253)
  AUTHORS   Yeo H, Ahn SS, Lee JY and Shin SY.
  TITLE     EGR-1 acts as a transcriptional activator of KLK7 under IL-13
            stimulation
  JOURNAL   Biochem Biophys Res Commun 534, 303-309 (2021)
   PUBMED   33276948
  REMARK    GeneRIF: EGR-1 acts as a transcriptional activator of KLK7 under
            IL-13 stimulation.
REFERENCE   4  (residues 1 to 253)
  AUTHORS   Vasilopoulos Y, Cork MJ, Murphy R, Williams HC, Robinson DA, Duff
            GW, Ward SJ and Tazi-Ahnini R.
  TITLE     Genetic association between an AACC insertion in the 3'UTR of the
            stratum corneum chymotryptic enzyme gene and atopic dermatitis
  JOURNAL   J Invest Dermatol 123 (1), 62-66 (2004)
   PUBMED   15191543
  REMARK    GeneRIF: The AACC insertion in the SCCE gene may result in a change
            to SCCE activity within the skin barrier so SCCE could have an
            important role in the development of atopic dermatitis.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 253)
  AUTHORS   Dong Y, Kaushal A, Brattsand M, Nicklin J and Clements JA.
  TITLE     Differential splicing of KLK5 and KLK7 in epithelial ovarian cancer
            produces novel variants with potential as cancer biomarkers
  JOURNAL   Clin Cancer Res 9 (5), 1710-1720 (2003)
   PUBMED   12738725
  REMARK    GeneRIF: High expression of KLK7 transcript with a long
            3'-untranslated region is associated with ovarian cancer
REFERENCE   6  (residues 1 to 253)
  AUTHORS   Gan L, Lee I, Smith R, Argonza-Barrett R, Lei H, McCuaig J, Moss P,
            Paeper B and Wang K.
  TITLE     Sequencing and expression analysis of the serine protease gene
            cluster located in chromosome 19q13 region
  JOURNAL   Gene 257 (1), 119-130 (2000)
   PUBMED   11054574
REFERENCE   7  (residues 1 to 253)
  AUTHORS   Yousef GM, Scorilas A, Magklara A, Soosaipillai A and Diamandis EP.
  TITLE     The KLK7 (PRSS6) gene, encoding for the stratum corneum
            chymotryptic enzyme is a new member of the human kallikrein gene
            family - genomic characterization, mapping, tissue expression and
            hormonal regulation
  JOURNAL   Gene 254 (1-2), 119-128 (2000)
   PUBMED   10974542
REFERENCE   8  (residues 1 to 253)
  AUTHORS   Skytt A, Stromqvist M and Egelrud T.
  TITLE     Primary substrate specificity of recombinant human stratum corneum
            chymotryptic enzyme
  JOURNAL   Biochem Biophys Res Commun 211 (2), 586-589 (1995)
   PUBMED   7794273
REFERENCE   9  (residues 1 to 253)
  AUTHORS   Hansson L, Stromqvist M, Backman A, Wallbrandt P, Carlstein A and
            Egelrud T.
  TITLE     Cloning, expression, and characterization of stratum corneum
            chymotryptic enzyme. A skin-specific human serine proteinase
  JOURNAL   J Biol Chem 269 (30), 19420-19426 (1994)
   PUBMED   8034709
REFERENCE   10 (residues 1 to 253)
  AUTHORS   Egelrud T.
  TITLE     Purification and preliminary characterization of stratum corneum
            chymotryptic enzyme: a proteinase that may be involved in
            desquamation
  JOURNAL   J Invest Dermatol 101 (2), 200-204 (1993)
   PUBMED   8393902
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF411214.1, AI049783.1 and
            AC011483.7.
            
            Summary: This gene encodes a member of the kallikrein subfamily of
            serine proteases. These enzymes have diverse physiological
            functions and many kallikrein genes are biomarkers for cancer. The
            encoded protein has chymotrypsin-like activity and plays a role in
            the proteolysis of intercellular cohesive structures that precedes
            desquamation, the shedding of the outermost layer of the epidermis.
            The encoded protein may play a role in cancer invasion and
            metastasis, and increased expression of this gene is associated
            with unfavorable prognosis and progression of several types of
            cancer. Polymorphisms in this gene may play a role in the
            development of atopic dermatitis. Alternatively spliced transcript
            variants encoding multiple isoforms have been observed for this
            gene, which is one of fifteen kallikrein subfamily members located
            in a gene cluster on chromosome 19. [provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1 and 2
            encode the same isoform.
            
            Sequence Note: This RefSeq record was created from transcript
            sequence data to make the sequence consistent with the reference
            genome assembly, which represents the 'AACCAACC' allele with
            regards to the 3' UTR polymorphism described in PMID 15191543.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.191041.1,
                                           SRR3476690.6584.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000595820.6/ ENSP00000470538.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..253
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     Protein         1..253
                     /product="kallikrein-7 isoform 1 preproprotein"
                     /EC_number="3.4.21.117"
                     /note="kallikrein 7 (chymotryptic, stratum corneum);
                     kallikrein-7; signal protein; serine protease 6; stratum
                     corneum chymotryptic enzyme"
                     /calculated_mol_wt=25206
     sig_peptide     1..22
                     /note="/evidence=ECO:0000269|PubMed:8034709; propagated
                     from UniProtKB/Swiss-Prot (P49862.1)"
                     /calculated_mol_wt=2337
     proprotein      23..253
                     /product="kallikrein-7 isoform 1 proprotein"
                     /calculated_mol_wt=25206
     Region          29..245
                     /region_name="Tryp_SPc"
                     /note="Trypsin-like serine protease; smart00020"
                     /db_xref="CDD:214473"
     mat_peptide     30..253
                     /product="Kallikrein-7. /id=PRO_0000027943"
                     /note="propagated from UniProtKB/Swiss-Prot (P49862.1)"
                     /calculated_mol_wt=24448
     Site            30
                     /site_type="active"
                     /note="cleavage site [active]"
                     /db_xref="CDD:238113"
     Site            order(70,112,205)
                     /site_type="active"
                     /db_xref="CDD:238113"
     Site            109
                     /site_type="other"
                     /note="Major binding site for inhibitory zinc or copper;
                     propagated from UniProtKB/Swiss-Prot (P49862.1)"
     Site            order(199,220,222)
                     /site_type="other"
                     /note="substrate binding sites [chemical binding]"
                     /db_xref="CDD:238113"
     Site            246
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P49862.1)"
     CDS             1..253
                     /gene="KLK7"
                     /gene_synonym="hK7; PRSS6; SCCE"
                     /coded_by="NM_005046.4:126..887"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS12812.1"
                     /db_xref="GeneID:5650"
                     /db_xref="HGNC:HGNC:6368"
                     /db_xref="MIM:604438"
ORIGIN      
        1 marslllplq illlslalet ageeaqgdki idgapcargs hpwqvallsg nqlhcggvlv
       61 nerwvltaah ckmneytvhl gsdtlgdrra qrikasksfr hpgystqthv ndlmlvklns
      121 qarlssmvkk vrlpsrcepp gttctvsgwg tttspdvtfp sdlmcvdvkl ispqdctkvy
      181 kdllensmlc agipdskkna cngdsggplv crgtlqglvs wgtfpcgqpn dpgvytqvck
      241 ftkwindtmk khr
//
LOCUS       NP_001186809             349 aa            linear   PRI 18-DEC-2022
DEFINITION  early growth response protein 3 isoform 2 [Homo sapiens].
ACCESSION   NP_001186809
VERSION     NP_001186809.1
DBSOURCE    REFSEQ: accession NM_001199880.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 349)
  AUTHORS   Chen P, Jiang P, Chen J, Yang Y and Guo X.
  TITLE     XIST promotes apoptosis and the inflammatory response in
            CSE-stimulated cells via the miR-200c-3p/EGR3 axis
  JOURNAL   BMC Pulm Med 21 (1), 215 (2021)
   PUBMED   34243729
  REMARK    GeneRIF: XIST promotes apoptosis and the inflammatory response in
            CSE-stimulated cells via the miR-200c-3p/EGR3 axis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 349)
  AUTHORS   Nie F, Zhang Q, Ma J, Wang P, Gu R, Han J and Zhang R.
  TITLE     Schizophrenia risk candidate EGR3 is a novel transcriptional
            regulator of RELN and regulates neurite outgrowth via the Reelin
            signal pathway in vitro
  JOURNAL   J Neurochem 157 (6), 1745-1758 (2021)
   PUBMED   33113163
  REMARK    GeneRIF: Schizophrenia risk candidate EGR3 is a novel
            transcriptional regulator of RELN and regulates neurite outgrowth
            via the Reelin signal pathway in vitro.
REFERENCE   3  (residues 1 to 349)
  AUTHORS   Guo C, Gao YY, Ju QQ, Zhang CX, Gong M and Li ZL.
  TITLE     HELQ and EGR3 expression correlate with IGHV mutation status and
            prognosis in chronic lymphocytic leukemia
  JOURNAL   J Transl Med 19 (1), 42 (2021)
   PUBMED   33485349
  REMARK    GeneRIF: HELQ and EGR3 expression correlate with IGHV mutation
            status and prognosis in chronic lymphocytic leukemia.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 349)
  AUTHORS   Knudsen AM, Eilertsen I, Kielland S, Pedersen MW, Sorensen MD,
            Dahlrot RH, Boldt HB, Munthe S, Poulsen FR and Kristensen BW.
  TITLE     Expression and prognostic value of the transcription factors EGR1
            and EGR3 in gliomas
  JOURNAL   Sci Rep 10 (1), 9285 (2020)
   PUBMED   32518380
  REMARK    GeneRIF: Expression and prognostic value of the transcription
            factors EGR1 and EGR3 in gliomas.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 349)
  AUTHORS   Li X, Yuan M, Song L and Wang Y.
  TITLE     Silencing of microRNA-210 inhibits the progression of liver cancer
            and hepatitis B virus-associated liver cancer via targeting EGR3
  JOURNAL   BMC Med Genet 21 (1), 48 (2020)
   PUBMED   32138690
  REMARK    GeneRIF: Silencing of miRNA-210 inhibits the progression of liver
            cancer and Hepatitis B virus-associated liver cancer via
            up-regulating EGR3.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 349)
  AUTHORS   Yang Y, Dong B, Mittelstadt PR, Xiao H and Ashwell JD.
  TITLE     HIV Tat binds Egr proteins and enhances Egr-dependent
            transactivation of the Fas ligand promoter
  JOURNAL   J Biol Chem 277 (22), 19482-19487 (2002)
   PUBMED   11909874
  REMARK    GeneRIF: HIV Tat binds Egr proteins and enhances Egr-dependent
            transactivation of the Fas ligand promoter
REFERENCE   7  (residues 1 to 349)
  AUTHORS   Tourtellotte WG and Milbrandt J.
  TITLE     Sensory ataxia and muscle spindle agenesis in mice lacking the
            transcription factor Egr3
  JOURNAL   Nat Genet 20 (1), 87-91 (1998)
   PUBMED   9731539
REFERENCE   8  (residues 1 to 349)
  AUTHORS   Morris ME, Viswanathan N, Kuhlman S, Davis FC and Weitz CJ.
  TITLE     A screen for genes induced in the suprachiasmatic nucleus by light
  JOURNAL   Science 279 (5356), 1544-1547 (1998)
   PUBMED   9488654
REFERENCE   9  (residues 1 to 349)
  AUTHORS   Mages HW, Stamminger T, Rilke O, Bravo R and Kroczek RA.
  TITLE     Expression of PILOT, a putative transcription factor, requires two
            signals and is cyclosporin A sensitive in T cells
  JOURNAL   Int Immunol 5 (1), 63-70 (1993)
   PUBMED   8443122
REFERENCE   10 (residues 1 to 349)
  AUTHORS   Patwardhan S, Gashler A, Siegel MG, Chang LC, Joseph LJ, Shows TB,
            Le Beau MM and Sukhatme VP.
  TITLE     EGR3, a novel member of the Egr family of genes encoding
            immediate-early transcription factors
  JOURNAL   Oncogene 6 (6), 917-928 (1991)
   PUBMED   1906159
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK295134.1, AK294968.1,
            S40832.1, X63741.1, N66802.1 and AC105046.10.
            
            Summary: This gene encodes a transcriptional regulator that belongs
            to the EGR family of C2H2-type zinc-finger proteins. It is an
            immediate-early growth response gene which is induced by mitogenic
            stimulation. The protein encoded by this gene participates in the
            transcriptional regulation of genes in controling biological
            rhythm. It may also play a role in a wide variety of processes
            including muscle development, lymphocyte development, endothelial
            cell growth and migration, and neuronal development. Alternative
            splicing results in multiple transcript variants encoding distinct
            isoforms.[provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (2) initiates from a distinct
            promoter and has a different 5' end, compared to variant (1). It
            encodes an isoform (2) with a shorter and distinct N-terminus,
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.155382.1,
                                           SRR1803611.130679.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..349
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     Protein         1..349
                     /product="early growth response protein 3 isoform 2"
                     /note="zinc finger protein pilot; early growth response
                     protein 3"
                     /calculated_mol_wt=38347
     Region          49..135
                     /region_name="DUF3446"
                     /note="Domain of unknown function (DUF3446); pfam11928"
                     /db_xref="CDD:432196"
     Region          231..>295
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          239..261
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(246,248,250,252..253,256..257,260,274,276,280..281,
                     284..285,288,302,304,306,308..309,312..313,316)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          265..>338
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          269..289
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          297..317
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..349
                     /gene="EGR3"
                     /gene_synonym="EGR-3; PILOT"
                     /coded_by="NM_001199880.2:24..1073"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS56528.1"
                     /db_xref="GeneID:1960"
                     /db_xref="HGNC:HGNC:3240"
                     /db_xref="MIM:602419"
ORIGIN      
        1 mepcaawspr ggrenvmdig ltnekpnpel sysgsfqpap gnktvtylgk fafdspsnwc
       61 qdniislmsa gilgvppasg alstqtstas mvqppqgdve amypalppys ncgdlysepv
      121 sfhdpqgnpg layspqdyqs akpaldsnlf pmipdynlyh hpndmgsipe hkpfqgmdpi
      181 rvnpppitpl etikafkdkq ihpgfgslpq ppltlkpirp rkypnrpskt plherphacp
      241 aegcdrrfsr sdeltrhlri htghkpfqcr icmrsfsrsd hltthirtht gekpfacefc
      301 grkfarsder krhakihlkq kekkaekgga psassappvs lapvvttca
//
LOCUS       NP_981956                159 aa            linear   PRI 25-DEC-2022
DEFINITION  transmembrane protein 88 isoform 1 [Homo sapiens].
ACCESSION   NP_981956 XP_043273
VERSION     NP_981956.1
DBSOURCE    REFSEQ: accession NM_203411.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 159)
  AUTHORS   Sun Z, Ning Q, Li H, Hu T, Tang L, Wen Q and Shen L.
  TITLE     Transmembrane protein 88 inhibits transforming growth
            factor-beta1-induced-extracellular matrix accumulation and
            epithelial-mesenchymal transition program in human pleural
            mesothelial cells through modulating TGF-beta1/Smad pathway
  JOURNAL   J Recept Signal Transduct Res 42 (1), 60-66 (2022)
   PUBMED   33167758
  REMARK    GeneRIF: Transmembrane protein 88 inhibits transforming growth
            factor-beta1-induced-extracellular matrix accumulation and
            epithelial-mesenchymal transition program in human pleural
            mesothelial cells through modulating TGF-beta1/Smad pathway.
REFERENCE   2  (residues 1 to 159)
  AUTHORS   Zhao X, Li G, Chong T, Xue L, Luo Q, Tang X, Zhai X, Chen J and
            Zhang X.
  TITLE     TMEM88 exhibits an antiproliferative and anti-invasive effect in
            bladder cancer by downregulating Wnt/beta-catenin signaling
  JOURNAL   J Biochem Mol Toxicol 35 (8), e22835 (2021)
   PUBMED   34057764
  REMARK    GeneRIF: TMEM88 exhibits an antiproliferative and anti-invasive
            effect in bladder cancer by downregulating Wnt/beta-catenin
            signaling.
REFERENCE   3  (residues 1 to 159)
  AUTHORS   Geng Q, Chen X and Chen N.
  TITLE     Transmembrane protein 88 exerts a tumor-inhibitory role in thyroid
            cancer through restriction of Wnt/beta-catenin signaling
  JOURNAL   Exp Cell Res 395 (2), 112193 (2020)
   PUBMED   32710906
  REMARK    GeneRIF: Transmembrane protein 88 exerts a tumor-inhibitory role in
            thyroid cancer through restriction of Wnt/beta-catenin signaling.
REFERENCE   4  (residues 1 to 159)
  AUTHORS   Xu T, Pan L, Li L, Hu S, Zhou H, Yang C, Yang J, Li H, Liu Y, Meng
            X and Li J.
  TITLE     MicroRNA-708 modulates Hepatic Stellate Cells activation and
            enhances extracellular matrix accumulation via direct targeting
            TMEM88
  JOURNAL   J Cell Mol Med 24 (13), 7127-7140 (2020)
   PUBMED   32463570
  REMARK    GeneRIF: MicroRNA-708 modulates Hepatic Stellate Cells activation
            and enhances extracellular matrix accumulation via direct targeting
            TMEM88.
REFERENCE   5  (residues 1 to 159)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 159)
  AUTHORS   Yu X, Zhang X, Zhang Y, Jiang G, Mao X and Jin F.
  TITLE     Cytosolic TMEM88 promotes triple-negative breast cancer by
            interacting with Dvl
  JOURNAL   Oncotarget 6 (28), 25034-25045 (2015)
   PUBMED   26325443
  REMARK    GeneRIF: TMEM88 stimulated triple negative breast cancer cell
            invasion by interacting with DVL1.
REFERENCE   7  (residues 1 to 159)
  AUTHORS   He M, Xu M, Zhang B, Liang J, Chen P, Lee JY, Johnson TA, Li H,
            Yang X, Dai J, Liang L, Gui L, Qi Q, Huang J, Li Y, Adair LS, Aung
            T, Cai Q, Cheng CY, Cho MC, Cho YS, Chu M, Cui B, Gao YT, Go MJ, Gu
            D, Gu W, Guo H, Hao Y, Hong J, Hu Z, Hu Y, Huang J, Hwang JY, Ikram
            MK, Jin G, Kang DH, Khor CC, Kim BJ, Kim HT, Kubo M, Lee J, Lee J,
            Lee NR, Li R, Li J, Liu J, Longe J, Lu W, Lu X, Miao X, Okada Y,
            Ong RT, Qiu G, Seielstad M, Sim X, Song H, Takeuchi F, Tanaka T,
            Taylor PR, Wang L, Wang W, Wang Y, Wu C, Wu Y, Xiang YB, Yamamoto
            K, Yang H, Liao M, Yokota M, Young T, Zhang X, Kato N, Wang QK,
            Zheng W, Hu FB, Lin D, Shen H, Teo YY, Mo Z, Wong TY, Lin X, Mohlke
            KL, Ning G, Tsunoda T, Han BG, Shu XO, Tai ES, Wu T and Qi L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   8  (residues 1 to 159)
  AUTHORS   Palpant NJ, Pabon L, Rabinowitz JS, Hadland BK, Stoick-Cooper CL,
            Paige SL, Bernstein ID, Moon RT and Murry CE.
  TITLE     Transmembrane protein 88: a Wnt regulatory protein that specifies
            cardiomyocyte development
  JOURNAL   Development 140 (18), 3799-3808 (2013)
   PUBMED   23924634
  REMARK    GeneRIF: TMEM88 is crucial for heart development and acts
            downstream of GATA factors in the pre-cardiac mesoderm to specify
            lineage commitment of cardiomyocyte.
REFERENCE   9  (residues 1 to 159)
  AUTHORS   Jang JS, Jeon HS, Sun Z, Aubry MC, Tang H, Park CH, Rakhshan F,
            Schultz DA, Kolbert CP, Lupu R, Park JY, Harris CC, Yang P and Jen
            J.
  TITLE     Increased miR-708 expression in NSCLC and its association with poor
            survival in lung adenocarcinoma from never smokers
  JOURNAL   Clin Cancer Res 18 (13), 3658-3667 (2012)
   PUBMED   22573352
  REMARK    GeneRIF: miRNA-708 acts as an oncogene contributing to tumor growth
            and disease progression by directly downregulating TMEM88
REFERENCE   10 (residues 1 to 159)
  AUTHORS   Lee HJ, Finkelstein D, Li X, Wu D, Shi DL and Zheng JJ.
  TITLE     Identification of transmembrane protein 88 (TMEM88) as a
            dishevelled-binding protein
  JOURNAL   J Biol Chem 285 (53), 41549-41556 (2010)
   PUBMED   21044957
  REMARK    GeneRIF: TMEM88 associates with Dvl proteins and regulates Wnt
            signaling in a context-dependent manner
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC057812.1.
            On Mar 23, 2004 this sequence version replaced XP_043273.3.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC057812.1, SRR5189655.212732.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301599.7/ ENSP00000301599.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..159
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     Protein         1..159
                     /product="transmembrane protein 88 isoform 1"
                     /calculated_mol_wt=17119
     Site            43..63
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PEY1.1)"
     Site            88..108
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PEY1.1)"
     Region          137..159
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PEY1.1)"
     CDS             1..159
                     /gene="TMEM88"
                     /coded_by="NM_203411.2:10..489"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS11121.1"
                     /db_xref="GeneID:92162"
                     /db_xref="HGNC:HGNC:32371"
                     /db_xref="MIM:617813"
ORIGIN      
        1 madvpgaqra vpgdgpeprd pldcwacavl vtaqnllvaa fnllllvlvl gtillpavtm
       61 lgfgflchsq flrsqappct ahlrdpgfta llvtgflllv pllvlalasy rrlclrlrla
      121 dclvpysral yrrrrapqpr qiraspgsqa vptsgkvwv
//
LOCUS       NP_783860                491 aa            linear   PRI 25-DEC-2022
DEFINITION  synaptotagmin-9 [Homo sapiens].
ACCESSION   NP_783860
VERSION     NP_783860.1
DBSOURCE    REFSEQ: accession NM_175733.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 491)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 491)
  AUTHORS   Xie HH, Li J, Li PQ, Zhang AA, Li Y, Wang YZ, Xie DX and Xie XD.
  TITLE     A genetic variant in a homocysteine metabolic gene that increases
            the risk of congenital cardiac septal defects in Han Chinese
            populations
  JOURNAL   IUBMB Life 69 (9), 700-705 (2017)
   PUBMED   28834160
  REMARK    GeneRIF: The intronic SYT9 variant rs11041321, which exhibits a
            significant genome-wide association with circulating homocysteine,
            was associated with the occurrence of congenital cardiac septal
            defects (CCSDs). This finding helps to characterize the unexpected
            role of SYT9 in homocysteine metabolism and the development of
            CCSDs, which further highlighted the interplay of diet, genetics,
            and human birth defects
REFERENCE   3  (residues 1 to 491)
  AUTHORS   Wang Y and Tatakis DN.
  TITLE     Human gingiva transcriptome during wound healing
  JOURNAL   J Clin Periodontol 44 (4), 394-402 (2017)
   PUBMED   28005267
  REMARK    GeneRIF: SYT9 expression is significantly downregulated in human
            masticatory mucosa during wound healing
REFERENCE   4  (residues 1 to 491)
  AUTHORS   Deng X, Sabino EC, Cunha-Neto E, Ribeiro AL, Ianni B, Mady C, Busch
            MP and Seielstad M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 491)
  AUTHORS   Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A,
            Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V,
            Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I,
            Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat
            JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang
            W, Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd
            PM, Hayward C, Aulchenko Y, Campbell H and Rudan I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   6  (residues 1 to 491)
  AUTHORS   Zhang X, Kim-Miller MJ, Fukuda M, Kowalchyk JA and Martin TF.
  TITLE     Ca2+-dependent synaptotagmin binding to SNAP-25 is essential for
            Ca2+-triggered exocytosis
  JOURNAL   Neuron 34 (4), 599-611 (2002)
   PUBMED   12062043
REFERENCE   7  (residues 1 to 491)
  AUTHORS   Fukuda M, Kowalchyk JA, Zhang X, Martin TF and Mikoshiba K.
  TITLE     Synaptotagmin IX regulates Ca2+-dependent secretion in PC12 cells
  JOURNAL   J Biol Chem 277 (7), 4601-4604 (2002)
   PUBMED   11751925
REFERENCE   8  (residues 1 to 491)
  AUTHORS   Craxton M.
  TITLE     Genomic analysis of synaptotagmin genes
  JOURNAL   Genomics 77 (1-2), 43-49 (2001)
   PUBMED   11543631
REFERENCE   9  (residues 1 to 491)
  AUTHORS   Mizutani A, Fukuda M, Ibata K, Shiraishi Y and Mikoshiba K.
  TITLE     SYNCRIP, a cytoplasmic counterpart of heterogeneous nuclear
            ribonucleoprotein R, interacts with ubiquitous synaptotagmin
            isoforms
  JOURNAL   J Biol Chem 275 (13), 9823-9831 (2000)
   PUBMED   10734137
REFERENCE   10 (residues 1 to 491)
  AUTHORS   Perin MS.
  TITLE     Mirror image motifs mediate the interaction of the COOH terminus of
            multiple synaptotagmins with the neurexins and calmodulin
  JOURNAL   Biochemistry 35 (43), 13808-13816 (1996)
   PUBMED   8901523
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC027804.7, AC060799.6 and AC107884.15.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.15052.1,
                                           SRR1803616.186340.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318881.11/ ENSP00000324419.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..491
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..491
                     /product="synaptotagmin-9"
                     /note="sytIX; synaptotagmin IX"
                     /calculated_mol_wt=56057
     Region          9..31
                     /region_name="Cysteine motif.
                     /evidence=ECO:0000250|UniProtKB:O35681"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SS6.1)"
     Site            53..73
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SS6.1)"
     Site            177
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0N9; propagated from
                     UniProtKB/Swiss-Prot (Q86SS6.1)"
     Region          221..345
                     /region_name="C2"
                     /note="C2 domain; cl14603"
                     /db_xref="CDD:449331"
     Region          354..487
                     /region_name="C2B_Synaptotagmin-3-5-6-9-10"
                     /note="C2 domain second repeat present in Synaptotagmins
                     3, 5, 6, 9, and 10; cd08403"
                     /db_xref="CDD:176048"
     Site            order(383,389,413,443,445,451)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176048"
     CDS             1..491
                     /gene="SYT9"
                     /coded_by="NM_175733.4:284..1759"
                     /db_xref="CCDS:CCDS7778.1"
                     /db_xref="GeneID:143425"
                     /db_xref="HGNC:HGNC:19265"
                     /db_xref="MIM:613528"
ORIGIN      
        1 mpgardalch qalqllaelc argalehdsc qdfiyhlrdr arprlrdpdi svslltlvvt
       61 acglalfgvs lfvswklcwv pwrerglpsg skdnnqepln ymdtetneqe nsedfldppt
      121 pcpdssmkis htspdiplst qtgiqencah gvrvqrqvte ptssarhnsi rrqlnlsnpd
      181 fniqqlqkqe qltgigrikp elykqrsldn ddgrrsnska cgklnfilky dcdleqlivk
      241 ihkavnlpak dfsgtsdpyv kiyllpdrkt khqtkvhrkt lnpvfdevfl fpvpyndlea
      301 rklhfsvydf drfsrhdlig qvvvdhfldl adfprecilw kdieyvtndn vdlgelmfsl
      361 cylptagrlt itiikarnlk amditgasdp yvkvslmcdg rrlkkrktst krntlnpvyn
      421 eaivfdvppe nidqihlsia vmdydrvghn eiigvcqvgn eaerlgrdhw semlsyprkp
      481 iahwhslvek r
//
LOCUS       NP_775829                655 aa            linear   PRI 25-DEC-2022
DEFINITION  FYVE, RhoGEF and PH domain-containing protein 2 [Homo sapiens].
ACCESSION   NP_775829
VERSION     NP_775829.2
DBSOURCE    REFSEQ: accession NM_173558.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 655)
  AUTHORS   Chuan J, He S, Xie T, Wang G and Yang Z.
  TITLE     Characterization of guanine nucleotide exchange activity of DH
            domain of human FGD2
  JOURNAL   Protein Expr Purif 176, 105693 (2020)
   PUBMED   32681954
  REMARK    GeneRIF: Characterization of guanine nucleotide exchange activity
            of DH domain of human FGD2.
REFERENCE   2  (residues 1 to 655)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 655)
  AUTHORS   Navarini AA, Simpson MA, Weale M, Knight J, Carlavan I, Reiniche P,
            Burden DA, Layton A, Bataille V, Allen M, Pleass R, Pink A, Creamer
            D, English J, Munn S, Walton S, Willis C, Deret S, Voegel JJ,
            Spector T, Smith CH, Trembath RC and Barker JN.
  CONSRTM   Acne Genetic Study Group
  TITLE     Genome-wide association study identifies three novel susceptibility
            loci for severe Acne vulgaris
  JOURNAL   Nat Commun 5, 4020 (2014)
   PUBMED   24927181
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 655)
  AUTHORS   Huber C, Martensson A, Bokoch GM, Nemazee D and Gavin AL.
  TITLE     FGD2, a CDC42-specific exchange factor expressed by
            antigen-presenting cells, localizes to early endosomes and active
            membrane ruffles
  JOURNAL   J Biol Chem 283 (49), 34002-34012 (2008)
   PUBMED   18838382
  REMARK    GeneRIF: FGD2 has a role in leukocyte signaling and vesicle
            trafficking in cells specialized to present antigen in the immune
            system
REFERENCE   5  (residues 1 to 655)
  AUTHORS   Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C,
            Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D,
            Megarbane A, Haase G and Levy N.
  TITLE     Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN
            cause autosomal recessive Charcot-Marie-Tooth type 4H
  JOURNAL   Am J Hum Genet 81 (1), 1-16 (2007)
   PUBMED   17564959
REFERENCE   6  (residues 1 to 655)
  AUTHORS   Rabizadeh S and Bredesen DE.
  TITLE     Ten years on: mediation of cell death by the common neurotrophin
            receptor p75(NTR)
  JOURNAL   Cytokine Growth Factor Rev 14 (3-4), 225-239 (2003)
   PUBMED   12787561
  REMARK    Review article
REFERENCE   7  (residues 1 to 655)
  AUTHORS   Salehi AH, Xanthoudakis S and Barker PA.
  TITLE     NRAGE, a p75 neurotrophin receptor-interacting protein, induces
            caspase activation and cell death through a JNK-dependent
            mitochondrial pathway
  JOURNAL   J Biol Chem 277 (50), 48043-48050 (2002)
   PUBMED   12376548
REFERENCE   8  (residues 1 to 655)
  AUTHORS   Harrington AW, Kim JY and Yoon SO.
  TITLE     Activation of Rac GTPase by p75 is necessary for c-jun N-terminal
            kinase-mediated apoptosis
  JOURNAL   J Neurosci 22 (1), 156-166 (2002)
   PUBMED   11756498
REFERENCE   9  (residues 1 to 655)
  AUTHORS   Hattori A, Okumura K, Nagase T, Kikuno R, Hirosawa M and Ohara O.
  TITLE     Characterization of long cDNA clones from human adult spleen
  JOURNAL   DNA Res 7 (6), 357-366 (2000)
   PUBMED   11214971
REFERENCE   10 (residues 1 to 655)
  AUTHORS   Pasteris NG and Gorski JL.
  TITLE     Isolation, characterization, and mapping of the mouse and human
            Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene
            homologues
  JOURNAL   Genomics 60 (1), 57-66 (1999)
   PUBMED   10458911
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC023645.2, BC053655.1 and
            AL160264.22.
            This sequence is a reference standard in the RefSeqGene project.
            On May 31, 2008 this sequence version replaced NP_775829.1.
            
            Summary: The protein encoded by this gene belongs to a family of
            guanine nucleotide exchange factors (GEFs) which control
            cytoskeleton-dependent membrane rearrangements by activating the
            cell division cycle 42 (CDC42) protein. This gene is expressed in B
            lymphocytes, macrophages, and dendritic cells. The encoded protein
            may play a role in leukocyte signaling and vesicle trafficking in
            antigen-presenting cells in the immune system. [provided by RefSeq,
            Oct 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.91631.1, BC023645.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274963.13/ ENSP00000274963.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..655
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.2"
     Protein         1..655
                     /product="FYVE, RhoGEF and PH domain-containing protein 2"
                     /note="FGD1 family, member 2; FLJ00276 protein; zinc
                     finger FYVE domain-containing protein 4; epididymis
                     secretory sperm binding protein"
                     /calculated_mol_wt=74761
     Site            11
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BY35; propagated from
                     UniProtKB/Swiss-Prot (Q7Z6J4.1)"
     Region          18..64
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6J4.1)"
     Site            48
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BY35; propagated from
                     UniProtKB/Swiss-Prot (Q7Z6J4.1)"
     Region          104..288
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(109,113,211,239..240,243..244,246..247,250..251,
                     254..255,258,284,288)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          320..427
                     /region_name="PH1_FGD2"
                     /note="FYVE, RhoGEF and PH domain containing/faciogenital
                     dysplasia protein 2, N-terminal Pleckstrin homology (PH)
                     domain; cd13386"
                     /db_xref="CDD:275421"
     Region          453..517
                     /region_name="FYVE_FGD1_2_4"
                     /note="FYVE domain found in FYVE, RhoGEF and PH
                     domain-containing protein facio-genital dysplasia FGD1,
                     FGD2, FGD4; cd15741"
                     /db_xref="CDD:277280"
     Site            order(455,458,477..482,484..485,508..510)
                     /site_type="other"
                     /note="putative phosphatidylinositol 3-phosphate binding
                     site [chemical binding]"
                     /db_xref="CDD:277280"
     Region          538..640
                     /region_name="PH2_FGD1-4"
                     /note="FYVE, RhoGEF and PH domain containing/faciogenital
                     dysplasia proteins pleckstrin homology (PH) domain,
                     C-terminus; cd13236"
                     /db_xref="CDD:270056"
     Site            654
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q7Z6J4.1)"
     CDS             1..655
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /coded_by="NM_173558.4:164..2131"
                     /db_xref="CCDS:CCDS4829.1"
                     /db_xref="GeneID:221472"
                     /db_xref="HGNC:HGNC:3664"
                     /db_xref="MIM:605091"
ORIGIN      
        1 mkgaseekla svsnlvtvfe nsrtpeaapr gqrledvhhr pecrppespg prektnvgea
       61 vgseprtvsr rylnslknkl sseawrkscq pvtlsgsgtq epekkivqel leteqayvar
      121 lhlldqvffq ellktarssk afpedvvrvi fsnissiyqf hsqfflpelq rrlddwtanp
      181 rigdviqkla pflkmyseyv knferaaell atwtdksplf qevltriqss easgsltlqh
      241 hmlepvqrip ryelllkeyi qklpaqapdq adaqkaldmi fsaaqhsnaa itemerlqdl
      301 wevyqrlgle ddivdpsntl lregpvlkis frrndpmery lflfnnmlly cvprviqvga
      361 qfqvrtridv agmkvrelmd aefphsflvs gkqrtlelqa rsqeemiswm qafqaaidqi
      421 ekrnetfkaa aqgpegdiqe qelqseelgl rapqwvrdkm vtmcmrcqep fnaltrrrhh
      481 cracgyvvca rcsdyraelk yddnrpnrvc lhcyafltgn vlpeakedkr rgilekgssa
      541 tpdqslmcsf lqligdkwgk sgprgwcvip rddplvlyvy aapqdmraht sipllgyqvt
      601 vgpqgdprvf qlqqsgqlyt fkaeteelkg rwvkameraa sgwspswpnd gdlsd
//
LOCUS       NP_004470                342 aa            linear   PRI 27-DEC-2022
DEFINITION  alpha-(1,3)-fucosyltransferase 7 [Homo sapiens].
ACCESSION   NP_004470
VERSION     NP_004470.1
DBSOURCE    REFSEQ: accession NM_004479.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 342)
  AUTHORS   Fang Y, Qu Y, Ji L, Sun H, Li J, Zhao Y, Liang F, Wang Z, Su J, Liu
            J, Dai L and Ouyang S.
  TITLE     Novel blood-based FUT7 DNA methylation is associated with lung
            cancer: especially for lung squamous cell carcinoma
  JOURNAL   Clin Epigenetics 14 (1), 167 (2022)
   PUBMED   36463240
  REMARK    GeneRIF: Novel blood-based FUT7 DNA methylation is associated with
            lung cancer: especially for lung squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 342)
  AUTHORS   Wu CH, Inoue T, Nakamura Y, Uni R, Hasegawa S, Maekawa H, Sugahara
            M, Wada Y, Tanaka T, Nangaku M and Inagi R.
  TITLE     Activation of alpha7 nicotinic acetylcholine receptors attenuates
            monocyte-endothelial adhesion through FUT7 inhibition
  JOURNAL   Biochem Biophys Res Commun 590, 89-96 (2022)
   PUBMED   34973535
  REMARK    GeneRIF: Activation of alpha7 nicotinic acetylcholine receptors
            attenuates monocyte-endothelial adhesion through FUT7 inhibition.
REFERENCE   3  (residues 1 to 342)
  AUTHORS   Xu T, Liu J, Xia Y, Wang Z, Li X and Gao Q.
  TITLE     Integrated analysis reveals the participation of IL4I1, ITGB7, and
            FUT7 in reshaping the TNBC immune microenvironment by targeting
            glycolysis
  JOURNAL   Ann Med 53 (1), 916-928 (2021)
   PUBMED   34134578
  REMARK    GeneRIF: Integrated analysis reveals the participation of IL4I1,
            ITGB7, and FUT7 in reshaping the TNBC immune microenvironment by
            targeting glycolysis.
REFERENCE   4  (residues 1 to 342)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 342)
  AUTHORS   Jassam SA, Maherally Z, Ashkan K, Pilkington GJ and Fillmore HL.
  TITLE     Fucosyltransferase 4 and 7 mediates adhesion of non-small cell lung
            cancer cells to brain-derived endothelial cells and results in
            modification of the blood-brain-barrier: in vitro investigation of
            CD15 and CD15s in lung-to-brain metastasis
  JOURNAL   J Neurooncol 143 (3), 405-415 (2019)
   PUBMED   31104223
  REMARK    GeneRIF: High FUT7 expression and CD15 are associated with lung and
            brain metastasis.
REFERENCE   6  (residues 1 to 342)
  AUTHORS   Knibbs RN, Craig RA, Natsuka S, Chang A, Cameron M, Lowe JB and
            Stoolman LM.
  TITLE     The fucosyltransferase FucT-VII regulates E-selectin ligand
            synthesis in human T cells
  JOURNAL   J Cell Biol 133 (4), 911-920 (1996)
   PUBMED   8666674
REFERENCE   7  (residues 1 to 342)
  AUTHORS   Smith PL, Gersten KM, Petryniak B, Kelly RJ, Rogers C, Natsuka Y,
            Alford JA 3rd, Scheidegger EP, Natsuka S and Lowe JB.
  TITLE     Expression of the alpha(1,3)fucosyltransferase Fuc-TVII in lymphoid
            aggregate high endothelial venules correlates with expression of
            L-selectin ligands
  JOURNAL   J Biol Chem 271 (14), 8250-8259 (1996)
   PUBMED   8626519
REFERENCE   8  (residues 1 to 342)
  AUTHORS   Natsuka,S., Gersten,K.M., Zenita,K., Kannagi,R. and Lowe,J.B.
  TITLE     Molecular cloning of a cDNA encoding a novel human leukocyte
            alpha-1,3-fucosyltransferase capable of synthesizing the sialyl
            Lewis x determinant
  JOURNAL   J Biol Chem 269 (32), 20806 (1994)
   PUBMED   8051184
REFERENCE   9  (residues 1 to 342)
  AUTHORS   Natsuka S, Gersten KM, Zenita K, Kannagi R and Lowe JB.
  TITLE     Molecular cloning of a cDNA encoding a novel human leukocyte
            alpha-1,3-fucosyltransferase capable of synthesizing the sialyl
            Lewis x determinant
  JOURNAL   J Biol Chem 269 (24), 16789-16794 (1994)
   PUBMED   8207002
  REMARK    Erratum:[J Biol Chem 1994 Aug 12;269(32):20806]
REFERENCE   10 (residues 1 to 342)
  AUTHORS   Sasaki K, Kurata K, Funayama K, Nagata M, Watanabe E, Ohta S, Hanai
            N and Nishi T.
  TITLE     Expression cloning of a novel alpha 1,3-fucosyltransferase that is
            involved in biosynthesis of the sialyl Lewis x carbohydrate
            determinants in leukocytes
  JOURNAL   J Biol Chem 269 (20), 14730-14737 (1994)
   PUBMED   8182079
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL807752.10.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a Golgi stack membrane
            protein that is involved in the creation of sialyl-Lewis X
            antigens. The encoded protein can direct the synthesis of the
            E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq, Jul
            2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC086312.1, X78031.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314412.7/ ENSP00000318142.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..342
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     Protein         1..342
                     /product="alpha-(1,3)-fucosyltransferase 7"
                     /EC_number="2.4.1.-"
                     /note="galactoside 3-L-fucosyltransferase; selectin-ligand
                     synthase; fuc-TVII; fucosyltransferase VII;
                     fucosyltransferase 7 (alpha (1,3) fucosyltransferase)"
                     /calculated_mol_wt=39108
     Site            15..36
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q11130.1)"
     Region          44..154
                     /region_name="Glyco_tran_10_N"
                     /note="Fucosyltransferase, N-terminal; pfam17039"
                     /db_xref="CDD:435707"
     Site            81
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15926890; propagated from
                     UniProtKB/Swiss-Prot (Q11130.1)"
     Region          166..339
                     /region_name="Glyco_transf_10"
                     /note="Glycosyltransferase family 10 (fucosyltransferase)
                     C-term; pfam00852"
                     /db_xref="CDD:425907"
     Site            291
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15926890; propagated from
                     UniProtKB/Swiss-Prot (Q11130.1)"
     CDS             1..342
                     /gene="FUT7"
                     /gene_synonym="FucT-VII"
                     /coded_by="NM_004479.4:98..1126"
                     /db_xref="CCDS:CCDS7022.1"
                     /db_xref="GeneID:2529"
                     /db_xref="HGNC:HGNC:4018"
                     /db_xref="MIM:602030"
ORIGIN      
        1 mnnaghgptr rlrglgvlag vallaalwll wllgsaprgt papqptitil vwhwpftdqp
       61 pelpsdtctr ygiarchlsa nrsllasada vvfhhrelqt rrshlplaqr prgqpwvwas
      121 mespshthgl shlrgifnwv lsyrrdsdif vpygrlephw gpspplpaks rvaawvvsnf
      181 qerqlrarly rqlaphlrvd vfgrangrpl casclvptva qyrfylsfen sqhrdyitek
      241 fwrnalvagt vpvvlgppra tyeafvpada fvhvddfgsa relaafltgm nesryqrffa
      301 wrdrlrvrlf tdwrerfcai cdryphlprs qvyedlegwf qa
//
LOCUS       NP_002933               1378 aa            linear   PRI 27-DEC-2022
DEFINITION  roundabout homolog 2 isoform ROBO2b precursor [Homo sapiens].
ACCESSION   NP_002933 XP_031246
VERSION     NP_002933.1
DBSOURCE    REFSEQ: accession NM_002942.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1378)
  AUTHORS   Miyaguchi M, Nakanishi Y, Maturana AD, Mizutani K and Niimi T.
  TITLE     Conformational Change of the Hairpin-like-structured Robo2
            Ectodomain Allows NELL1/2 Binding
  JOURNAL   J Mol Biol 434 (19), 167777 (2022)
   PUBMED   35940226
  REMARK    GeneRIF: Conformational Change of the Hairpin-like-structured Robo2
            Ectodomain Allows NELL1/2 Binding.
REFERENCE   2  (residues 1 to 1378)
  AUTHORS   Quiat D, Kim SW, Zhang Q, Morton SU, Pereira AC, DePalma SR,
            Willcox JAL, McDonough B, DeLaughter DM, Gorham JM, Curran JJ,
            Tumblin M, Nicolau Y, Artunduaga MA, Quintanilla-Dieck L, Osorno G,
            Serrano L, Hamdan U, Eavey RD, Seidman CE and Seidman JG.
  TITLE     An ancient founder mutation located between ROBO1 and ROBO2 is
            responsible for increased microtia risk in Amerindigenous
            populations
  JOURNAL   Proc Natl Acad Sci U S A 119 (21), e2203928119 (2022)
   PUBMED   35584116
  REMARK    GeneRIF: An ancient founder mutation located between ROBO1 and
            ROBO2 is responsible for increased microtia risk in Amerindigenous
            populations.
REFERENCE   3  (residues 1 to 1378)
  AUTHORS   Ding C, Li Y, Wang S, Xing C, Chen L, Zhang H, Wang Y and Dai M.
  TITLE     ROBO2 hampers malignant biological behavior and predicts a better
            prognosis in pancreatic adenocarcinoma
  JOURNAL   Scand J Gastroenterol 56 (8), 955-964 (2021)
   PUBMED   34148491
  REMARK    GeneRIF: ROBO2 hampers malignant biological behavior and predicts a
            better prognosis in pancreatic adenocarcinoma.
REFERENCE   4  (residues 1 to 1378)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 1378)
  AUTHORS   Prescott J, Thompson DJ, Kraft P, Chanock SJ, Audley T, Brown J,
            Leyland J, Folkerd E, Doody D, Hankinson SE, Hunter DJ, Jacobs KB,
            Dowsett M, Cox DG, Easton DF and De Vivo I.
  TITLE     Genome-wide association study of circulating estradiol,
            testosterone, and sex hormone-binding globulin in postmenopausal
            women
  JOURNAL   PLoS One 7 (6), e37815 (2012)
   PUBMED   22675492
REFERENCE   6  (residues 1 to 1378)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (residues 1 to 1378)
  AUTHORS   Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson
            H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan
            V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA,
            Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton
            CC and Maas RL.
  TITLE     Disruption of ROBO2 is associated with urinary tract anomalies and
            confers risk of vesicoureteral reflux
  JOURNAL   Am J Hum Genet 80 (4), 616-632 (2007)
   PUBMED   17357069
  REMARK    GeneRIF: Disruption of ROBO2 is associated with urinary tract
            anomalies and confers risk of vesicoureteral reflux.
REFERENCE   8  (residues 1 to 1378)
  AUTHORS   Yue Y, Grossmann B, Galetzka D, Zechner U and Haaf T.
  TITLE     Isolation and differential expression of two isoforms of the
            ROBO2/Robo2 axon guidance receptor gene in humans and mice
  JOURNAL   Genomics 88 (6), 772-778 (2006)
   PUBMED   16829019
  REMARK    GeneRIF: two differentially expressed isoforms were isolated and
            identified. Exons 1 and 2 of human ROBO2a lie in an inherently
            unstable DNA segment at human chromosome 3p12.3.
REFERENCE   9  (residues 1 to 1378)
  AUTHORS   Hivert B, Liu Z, Chuang CY, Doherty P and Sundaresan V.
  TITLE     Robo1 and Robo2 are homophilic binding molecules that promote
            axonal growth
  JOURNAL   Mol Cell Neurosci 21 (4), 534-545 (2002)
   PUBMED   12504588
REFERENCE   10 (residues 1 to 1378)
  AUTHORS   Kidd T, Brose K, Mitchell KJ, Fetter RD, Tessier-Lavigne M, Goodman
            CS and Tear G.
  TITLE     Roundabout controls axon crossing of the CNS midline and defines a
            novel subfamily of evolutionarily conserved guidance receptors
  JOURNAL   Cell 92 (2), 205-215 (1998)
   PUBMED   9458045
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC117515.8, DQ533874.1 and
            AC133040.3.
            On Mar 27, 2005 this sequence version replaced XP_031246.11.
            
            Summary: The protein encoded by this gene belongs to the ROBO
            family, part of the immunoglobulin superfamily of proteins that are
            highly conserved from fly to human. The encoded protein is a
            transmembrane receptor for the slit homolog 2 protein and functions
            in axon guidance and cell migration. Mutations in this gene are
            associated with vesicoureteral reflux, characterized by the
            backward flow of urine from the bladder into the ureters or the
            kidney. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Feb 2014].
            
            Transcript Variant: This variant (2) lacks two alternate in-frame
            exons in the coding region compared to variant 4. The encoded
            protein (isoform ROBO2b; PMID 16829019) is shorter than variant 4.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ533874.1, BC146772.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665, SAMEA2157437
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1378
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p12.3"
     Protein         1..1378
                     /product="roundabout homolog 2 isoform ROBO2b precursor"
                     /note="roundabout, axon guidance receptor, homolog 2"
                     /calculated_mol_wt=148798
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2420
     mat_peptide     22..1378
                     /product="Roundabout homolog 2. /id=PRO_0000031036"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCK4.2)"
                     /calculated_mol_wt=148798
     Region          31..129
                     /region_name="IgC_1_Robo"
                     /note="First immunoglobulin (Ig)-like constant domain in
                     Robo (roundabout) receptors, and similar domains; cd07693"
                     /db_xref="CDD:409490"
     Region          31..35
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409490"
     Site            order(35,38,47,49,51,53,93..94)
                     /site_type="other"
                     /note="Slit binding interface [polypeptide binding]"
                     /db_xref="CDD:409490"
     Region          38..43
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409490"
     Region          47..55
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409490"
     Region          61..66
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409490"
     Region          69..71
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409490"
     Region          82..85
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409490"
     Region          88..94
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409490"
     Region          106..114
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409490"
     Region          117..129
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409490"
     Site            123
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9HCK4.2)"
     Region          136..221
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          150..154
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          164..168
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          186..190
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          200..205
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          214..217
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          228..310
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          242..246
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          255..259
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          276..280
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          290..295
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          303..306
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          315..412
                     /region_name="IgI_4_Robo"
                     /note="Fourth immunoglobulin (Ig)-like domain in Robo
                     (roundabout) receptors; member of the I-set of Ig
                     superfamily (IgSF) domains; cd05726"
                     /db_xref="CDD:409391"
     Region          315..319
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409391"
     Region          321..325
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409391"
     Region          331..339
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409391"
     Region          342..349
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409391"
     Region          351..354
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409391"
     Region          367..372
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409391"
     Region          374..381
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409391"
     Region          387..396
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409391"
     Region          398..409
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409391"
     Region          419..505
                     /region_name="IgI_5_Robo"
                     /note="Fifth Ig-like domain of Roundabout (Robo) homolog
                     1/2, and similar domains; a member of the I-set of IgSF
                     domains; cd20952"
                     /db_xref="CDD:409544"
     Region          419..422
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409544"
     Region          426..429
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409544"
     Site            426
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9HCK4.2)"
     Region          435..442
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409544"
     Region          448..453
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409544"
     Region          455..457
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409544"
     Region          464..468
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409544"
     Region          471..476
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409544"
     Region          484..492
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409544"
     Region          495..505
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409544"
     Region          522..615
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(522,587,602)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          603..625
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCK4.2)"
     Site            order(603..604,606..607)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          646..731
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(720..721,723..724)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          740..832
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(740,806,821)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            752
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9HCK4.2)"
     Site            782
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9HCK4.2)"
     Site            789
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9HCK4.2)"
     Site            order(822..823,825..826)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            845
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9HCK4.2)"
     Site            860..880
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCK4.2)"
     Region          1032..1084
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCK4.2)"
     Region          1124..1156
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCK4.2)"
     Site            1154
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q7TPD3; propagated from
                     UniProtKB/Swiss-Prot (Q9HCK4.2)"
     Site            1156
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7TPD3; propagated from
                     UniProtKB/Swiss-Prot (Q9HCK4.2)"
     Region          1215..1348
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCK4.2)"
     CDS             1..1378
                     /gene="ROBO2"
                     /gene_synonym="SAX3"
                     /coded_by="NM_002942.5:688..4824"
                     /note="isoform ROBO2b precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS43109.1"
                     /db_xref="GeneID:6092"
                     /db_xref="HGNC:HGNC:10250"
                     /db_xref="MIM:602431"
ORIGIN      
        1 msllmftqll lcgflyvrvd gsrlrqedfp privehpsdv ivskgepttl nckaegrptp
       61 tiewykdger vetdkddprs hrmllpsgsl fflrivhgrr skpdegsyvc varnylgeav
      121 srnasleval lrddfrqnpt dvvvaagepa ilecqpprgh peptiywkkd kvriddkeer
      181 isirggklmi sntrksdagm ytcvgtnmvg erdsdpaelt vferptflrr pinqvvleee
      241 avefrcqvqg dpqptvrwkk ddadlprgry dikddytlri kktmstdegt ymciaenrvg
      301 kmeasatltv rappqfvvrp rdqivaqgrt vtfpcetkgn pqpavfwqke gsqnllfpnq
      361 pqqpnsrcsv sptgdltitn iqrsdagyyi cqaltvagsi lakaqlevtd vltdrpppii
      421 lqgpanqtla vdgtallkck atgdplpvis wlkegftfpg rdpratiqeq gtlqiknlri
      481 sdtgtytcva tsssgetsws avldvtesga tisknydlsd lpgppskpqv tdvtknsvtl
      541 swqpgtpgtl pasayiieaf sqsvsnswqt vanhvkttly tvrglrpnti ylfmvrainp
      601 qglsdpspms dpvrtqdisp paqgvdhrqv qkelgdvlvr lhnpvvltpt tvqvtwtvdr
      661 qpqfiqgyrv myrqtsglqa tsswqnldak vptersavlv nlkkgvtyei kvrpyfnefq
      721 gmdsesktvr tteeapsapp qsvtvltvgs ynstsisvsw dppppdhqng iiqeykiwcl
      781 gnetrfhink tvdaairsvi igglfpgiqy rvevaastsa gvgvksepqp iiigrrnevv
      841 itennnsite qitdvvkqpa fiagiggacw vilmgfsiwl ywrrkkrkgl snyavtfqrg
      901 dgglmsngsr pgllnagdps ypwladswpa tslpvnnsns gpneignfgr gdvlppvpgq
      961 gdktatmlsd gaiyssidft tktsynsssq itqatpyatt qilhsnsihe lavdlpdpqw
     1021 kssiqqktdl mgfgyslpdq nkgnnggkgg kkkknknssk pqknngstwa nvplppppvq
     1081 plpgtelehy aveqqengyd sdswcpplpv qtylhqgled eleedddrvp tppvrgvass
     1141 paisfgqqst atltpspree mqpmlqahld eltrayqfdi akqtwhiqsn nqppqppvpp
     1201 lgyvsgalis dletdvaddd addeeealei prplraldqt pgssmdnlds svtgkaftss
     1261 qrprptspfs tdsntsaals qsqrprptkk hkggrmdqqp alphrregmt deealvpysk
     1321 psfpspgghs ssgtasskgs tgprktevlr aghqrnasdl ldigymgsns qgqftgel
//
LOCUS       NP_001364899             857 aa            linear   PRI 28-DEC-2022
DEFINITION  disks large homolog 2 isoform 13 [Homo sapiens].
ACCESSION   NP_001364899 XP_016872764
VERSION     NP_001364899.1
DBSOURCE    REFSEQ: accession NM_001377970.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 857)
  AUTHORS   Bertini V, Milone R, Cristofani P, Cambi F, Bosetti C, Barbieri F,
            Bertelloni S, Cioni G, Valetto A and Battini R.
  TITLE     Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis
            of a Cohort of Eight Patients with 11q14.1 Imbalances
  JOURNAL   Genes (Basel) 13 (5), 859 (2022)
   PUBMED   35627244
  REMARK    GeneRIF: Enhancing DLG2 Implications in Neuropsychiatric Disorders:
            Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 857)
  AUTHORS   Prokopenko D, Lee S, Hecker J, Mullin K, Morgan S, Katsumata Y,
            Weiner MW, Fardo DW, Laird N, Bertram L, Hide W, Lange C and Tanzi
            RE.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative (ADNI)
  TITLE     Region-based analysis of rare genomic variants in whole-genome
            sequencing datasets reveal two novel Alzheimer's disease-associated
            genes: DTNB and DLG2
  JOURNAL   Mol Psychiatry 27 (4), 1963-1969 (2022)
   PUBMED   35246634
  REMARK    GeneRIF: Region-based analysis of rare genomic variants in
            whole-genome sequencing datasets reveal two novel Alzheimer's
            disease-associated genes: DTNB and DLG2.
REFERENCE   3  (residues 1 to 857)
  AUTHORS   Keane S, de Weerd HA and Ejeskar K.
  TITLE     DLG2 impairs dsDNA break repair and maintains genome integrity in
            neuroblastoma
  JOURNAL   DNA Repair (Amst) 112, 103302 (2022)
   PUBMED   35217496
  REMARK    GeneRIF: DLG2 impairs dsDNA break repair and maintains genome
            integrity in neuroblastoma.
REFERENCE   4  (residues 1 to 857)
  AUTHORS   Sanders B, D'Andrea D, Collins MO, Rees E, Steward TGJ, Zhu Y,
            Chapman G, Legge SE, Pardinas AF, Harwood AJ, Gray WP, O'Donovan
            MC, Owen MJ, Errington AC, Blake DJ, Whitcomb DJ, Pocklington AJ
            and Shin E.
  TITLE     Transcriptional programs regulating neuronal differentiation are
            disrupted in DLG2 knockout human embryonic stem cells and enriched
            for schizophrenia and related disorders risk variants
  JOURNAL   Nat Commun 13 (1), 27 (2022)
   PUBMED   35031607
  REMARK    GeneRIF: Transcriptional programs regulating neuronal
            differentiation are disrupted in DLG2 knockout human embryonic stem
            cells and enriched for schizophrenia and related disorders risk
            variants.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 857)
  AUTHORS   Stathakis DG, Lee D and Bryant PJ.
  TITLE     Fine-scale physical map of the 11q21 region surrounding the human
            DLG2 locus, the gene encoding Chapsyn-110
  JOURNAL   Genomics 54 (1), 186-188 (1998)
   PUBMED   9806853
REFERENCE   6  (residues 1 to 857)
  AUTHORS   Irie M, Hata Y, Takeuchi M, Ichtchenko K, Toyoda A, Hirao K, Takai
            Y, Rosahl TW and Sudhof TC.
  TITLE     Binding of neuroligins to PSD-95
  JOURNAL   Science 277 (5331), 1511-1515 (1997)
   PUBMED   9278515
REFERENCE   7  (residues 1 to 857)
  AUTHORS   Hsueh YP, Kim E and Sheng M.
  TITLE     Disulfide-linked head-to-head multimerization in the mechanism of
            ion channel clustering by PSD-95
  JOURNAL   Neuron 18 (5), 803-814 (1997)
   PUBMED   9182804
REFERENCE   8  (residues 1 to 857)
  AUTHORS   Kim E, Cho KO, Rothschild A and Sheng M.
  TITLE     Heteromultimerization and NMDA receptor-clustering activity of
            Chapsyn-110, a member of the PSD-95 family of proteins
  JOURNAL   Neuron 17 (1), 103-113 (1996)
   PUBMED   8755482
REFERENCE   9  (residues 1 to 857)
  AUTHORS   Brenman JE, Chao DS, Gee SH, McGee AW, Craven SE, Santillano DR, Wu
            Z, Huang F, Xia H, Peters MF, Froehner SC and Bredt DS.
  TITLE     Interaction of nitric oxide synthase with the postsynaptic density
            protein PSD-95 and alpha1-syntrophin mediated by PDZ domains
  JOURNAL   Cell 84 (5), 757-767 (1996)
   PUBMED   8625413
REFERENCE   10 (residues 1 to 857)
  AUTHORS   Kim E, Niethammer M, Rothschild A, Jan YN and Sheng M.
  TITLE     Clustering of Shaker-type K+ channels by interaction with a family
            of membrane-associated guanylate kinases
  JOURNAL   Nature 378 (6552), 85-88 (1995)
   PUBMED   7477295
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003305.2, AP002797.3,
            AC023118.4, AP002751.3, AP002370.5, AP000773.4 and AP003026.2.
            On Jan 23, 2020 this sequence version replaced XP_016872764.1.
            
            Summary: This gene encodes a member of the membrane-associated
            guanylate kinase (MAGUK) family. The encoded protein forms a
            heterodimer with a related family member that may interact at
            postsynaptic sites to form a multimeric scaffold for the clustering
            of receptors, ion channels, and associated signaling proteins.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. Additional transcript variants have been
            described, but their full-length nature is not known. [provided by
            RefSeq, Dec 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.169552.1,
                                           SRR1803613.189781.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..857
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1"
     Protein         1..857
                     /product="disks large homolog 2 isoform 13"
                     /note="channel-associated protein of synapses, 110kDa;
                     postsynaptic density protein PSD-93; channel-associated
                     protein of synapse-110; discs, large homolog 2,
                     chapsyn-110; protein phosphatase 1, regulatory subunit 58;
                     disks large homolog 2"
                     /calculated_mol_wt=94994
     Region          43..136
                     /region_name="MAGUK_N_PEST"
                     /note="Polyubiquitination (PEST) N-terminal domain of
                     MAGUK; pfam10608"
                     /db_xref="CDD:431391"
     Region          137..221
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(146..149,151,205..206,209..210)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          230..315
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(241..244,246,300..301,304..305)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          317..380
                     /region_name="PDZ_assoc"
                     /note="PDZ-associated domain of NMDA receptors; pfam10600"
                     /db_xref="CDD:431385"
     Region          406..484
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(417..420,422,470..471,474..475)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          521..594
                     /region_name="SH3_DLG2"
                     /note="Src Homology 3 domain of Disks Large homolog 2;
                     cd12032"
                     /db_xref="CDD:212965"
     Site            order(529,551..552)
                     /site_type="other"
                     /note="GuK domain interface [polypeptide binding]"
                     /db_xref="CDD:212965"
     Site            order(532,534,537,546,564..565,584,586..587)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212965"
     Region          666..844
                     /region_name="Guanylate_kin"
                     /note="Guanylate kinase; pfam00625"
                     /db_xref="CDD:395500"
     CDS             1..857
                     /gene="DLG2"
                     /gene_synonym="chapsyn-110; PPP1R58; PSD-93; PSD93"
                     /coded_by="NM_001377970.1:193..2766"
                     /note="isoform 13 is encoded by transcript variant 13"
                     /db_xref="CCDS:CCDS91557.1"
                     /db_xref="GeneID:1740"
                     /db_xref="HGNC:HGNC:2901"
                     /db_xref="MIM:603583"
ORIGIN      
        1 mnayltkqhs csrgsdgmda vrsaptlird ahcacgwqrn cqglgyssqt mpssgpggpa
       61 snrtggssfn rtlwdsvrks phktstkgkg tcgehctcph gwfspaqasp apiivntdtl
      121 dtipyvngte ieyefeeitl ergnsglgfs iaggtdnphi gddpgifitk iipggaaaed
      181 grlrvndcil rvnevdvsev shskavealk eagsivrlyv rrrrpiletv veiklfkgpk
      241 glgfsiaggv gnqhipgdns iyvtkiidgg aaqkdgrlqv gdrllmvnny sleevtheea
      301 vailkntsev vylkvgkptt iymtdpygpp dithsysppm enhllsgnng tleyktslpp
      361 ispgryspip khmlvdddyt shsqhstatr qpsmtlqrav slegeprkvv lhkgstglgf
      421 nivggedgeg ifvsfilagg padlsgelqr gdqilsvngi dlrgasheqa aaalkgagqt
      481 vtiiaqyqpe dyarfeakih dlreqmmnhs mssgsgslrt nqkrslyvra mfdydkskds
      541 glpsqglsfk ygdilhvina sddewwqarr vmlegdseem gvipskrrve rkerarlktv
      601 kfnakpgvid skgsfndkrk ksfifsrkfp fyknkeqseq etsdpergqe dlilsyepvt
      661 rqeinytrpv iilgpmkdri nddlisefpd kfgscvphtt rpkrdyevdg rdyhfvisre
      721 qmekdiqehk fieagqyndn lygtsvqsvr fvaergkhci ldvsgnaikr lqvaqlypia
      781 ifikprslep lmemnkrlte eqakktydra ikleqefgey ftaivqgdtl ediynqcklv
      841 ieeqsgpfiw ipskekl
//
LOCUS       NP_001229729             636 aa            linear   PRI 28-DEC-2022
DEFINITION  zinc finger protein 790 [Homo sapiens].
ACCESSION   NP_001229729
VERSION     NP_001229729.1
DBSOURCE    REFSEQ: accession NM_001242800.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 636)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (residues 1 to 636)
  AUTHORS   Lamesch P, Li N, Milstein S, Fan C, Hao T, Szabo G, Hu Z,
            Venkatesan K, Bethel G, Martin P, Rogers J, Lawlor S, McLaren S,
            Dricot A, Borick H, Cusick ME, Vandenhaute J, Dunham I, Hill DE and
            Vidal M.
  TITLE     hORFeome v3.1: a resource of human open reading frames representing
            over 10,000 human genes
  JOURNAL   Genomics 89 (3), 307-315 (2007)
   PUBMED   17207965
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008733.9, DC308617.1, AK297474.1, EL735861.1 and AC020928.7.
            
            Transcript Variant: This variant (2) represents a distinct first
            exon and 5' UTR.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853560.14506.1,
                                           SRR14038196.1172730.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..636
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     Protein         1..636
                     /product="zinc finger protein 790"
                     /calculated_mol_wt=74441
     Region          5..64
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          145..164
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          172..192
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <183..361
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          201..220
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          228..248
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          256..276
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          284..304
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(289,291,293,295..296,299..300,303,317,319,323..324,
                     327..328,331,345,347,349,351..352,355..356,359)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          308..>575
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          312..332
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          340..360
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          368..388
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          396..416
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          424..444
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          452..472
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          480..500
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(485,487,489,491..492,495..496,499,513,515,519..520,
                     523..524,527,541,543,545,547..548,551..552,555)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          508..528
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          536..556
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          564..583
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..636
                     /gene="ZNF790"
                     /coded_by="NM_001242800.2:167..2077"
                     /db_xref="CCDS:CCDS12496.1"
                     /db_xref="GeneID:388536"
                     /db_xref="HGNC:HGNC:33114"
ORIGIN      
        1 mahlmmfrdv avdfsqeewe cldleqrdly rdvmlenysn mvslgfciyq peafsllekg
       61 kepwkilrde trgpcpdmqs rcqtkkllpk ngifereiaq leimricknh sldclcfrgd
      121 wegntqfqtl qdnqeecfkq virtcekrpt fnqhtvfnlh qrlntgdkln efkelgkafi
      181 sgsdhtqhql ihtsekfcgd kecgntflpd seviqyqtvh tvkktyecke cgksfslrss
      241 ltghkrihtg ekpfkckdcg kafrfhsqls vhkrihtgek syeckecgka fscgsdltrh
      301 qrihtgekpy ecnecrkafs qrshlikhqr ihtgekpyec kecgkaftrg shltqhqrih
      361 tgekshecke cgkafirgsn laqhqnvhvg rkpykcekcg kayiwsshla rhqrihtgrk
      421 pyeckqcgkt ftwasylaqh ekihnerksy eckecgktfl hgsefnrhqk ihtgernyec
      481 kecgktffrg selnrhqkih tgkrpyecee cgkaflwgsq ltrhqrmhtg eepyvckecg
      541 ksfiwgsqlt rhkkihtdae pygckksshi fshhsyfteq kihnsanlce wtdygntfsh
      601 esnfaqhqni ytfeksyefk dfekafssss hfisll
//
LOCUS       NP_932157                858 aa            linear   PRI 29-DEC-2022
DEFINITION  polyhomeotic-like protein 2 isoform a [Homo sapiens].
ACCESSION   NP_932157
VERSION     NP_932157.1
DBSOURCE    REFSEQ: accession NM_198040.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 858)
  AUTHORS   Freire-Beneitez V, Pomella N, Millner TO, Dumas AA, Niklison-Chirou
            MV, Maniati E, Wang J, Rajeeve V, Cutillas P and Marino S.
  TITLE     Elucidation of the BMI1 interactome identifies novel regulatory
            roles in glioblastoma
  JOURNAL   NAR Cancer 3 (1), zcab009 (2021)
   PUBMED   34316702
  REMARK    Erratum:[NAR Cancer. 2021 May 25;3(2):zcab020. PMID: 34319293]
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 858)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 858)
  AUTHORS   Gray F, Cho HJ, Shukla S, He S, Harris A, Boytsov B, Jaremko L,
            Jaremko M, Demeler B, Lawlor ER, Grembecka J and Cierpicki T.
  TITLE     BMI1 regulates PRC1 architecture and activity through homo- and
            hetero-oligomerization
  JOURNAL   Nat Commun 7, 13343 (2016)
   PUBMED   27827373
  REMARK    GeneRIF: Interaction of BMI1 with polyhomeotic protein PHC2 and
            homo-oligomerization via ubiquitin-like domain are necessary for
            H2A ubiquitination activity of PRC1 and for clonogenic potential of
            U2OS cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 858)
  AUTHORS   Hauri S, Comoglio F, Seimiya M, Gerstung M, Glatter T, Hansen K,
            Aebersold R, Paro R, Gstaiger M and Beisel C.
  TITLE     A High-Density Map for Navigating the Human Polycomb Complexome
  JOURNAL   Cell Rep 17 (2), 583-595 (2016)
   PUBMED   27705803
REFERENCE   5  (residues 1 to 858)
  AUTHORS   Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB,
            Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G,
            Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J,
            Graslund S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ
            and Greenblatt J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
REFERENCE   6  (residues 1 to 858)
  AUTHORS   Tonkin E, Hagan DM, Li W and Strachan T.
  TITLE     Identification and characterisation of novel mammalian homologues
            of Drosophila polyhomeoticpermits new insights into relationships
            between members of the polyhomeotic family
  JOURNAL   Hum Genet 111 (4-5), 435-442 (2002)
   PUBMED   12384788
REFERENCE   7  (residues 1 to 858)
  AUTHORS   Levine SS, Weiss A, Erdjument-Bromage H, Shao Z, Tempst P and
            Kingston RE.
  TITLE     The core of the polycomb repressive complex is compositionally and
            functionally conserved in flies and humans
  JOURNAL   Mol Cell Biol 22 (17), 6070-6078 (2002)
   PUBMED   12167701
REFERENCE   8  (residues 1 to 858)
  AUTHORS   Gunther M, Laithier M and Brison O.
  TITLE     A set of proteins interacting with transcription factor Sp1
            identified in a two-hybrid screening
  JOURNAL   Mol Cell Biochem 210 (1-2), 131-142 (2000)
   PUBMED   10976766
REFERENCE   9  (residues 1 to 858)
  AUTHORS   Satijn DP, Gunster MJ, van der Vlag J, Hamer KM, Schul W, Alkema
            MJ, Saurin AJ, Freemont PS, van Driel R and Otte AP.
  TITLE     RING1 is associated with the polycomb group protein complex and
            acts as a transcriptional repressor
  JOURNAL   Mol Cell Biol 17 (7), 4105-4113 (1997)
   PUBMED   9199346
REFERENCE   10 (residues 1 to 858)
  AUTHORS   Gunster MJ, Satijn DP, Hamer KM, den Blaauwen JL, de Bruijn D,
            Alkema MJ, van Lohuizen M, van Driel R and Otte AP.
  TITLE     Identification and characterization of interactions between the
            vertebrate polycomb-group protein BMI1 and human homologs of
            polyhomeotic
  JOURNAL   Mol Cell Biol 17 (4), 2326-2335 (1997)
   PUBMED   9121482
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138837.12 and AL513327.34.
            
            Summary: In Drosophila melanogaster, the 'Polycomb' group (PcG) of
            genes are part of a cellular memory system that is responsible for
            the stable inheritance of gene activity. PcG proteins form a large
            multimeric, chromatin-associated protein complex. The protein
            encoded by this gene has homology to the Drosophila PcG protein
            'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and
            colocalize with BMI1 in interphase nuclei of human cells. The
            specific function in human cells has not yet been determined. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AJ419231.1 [ECO:0000331]
            RNAseq introns       :: partial sample support SAMEA1966682
                                    [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..858
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.1"
     Protein         1..858
                     /product="polyhomeotic-like protein 2 isoform a"
                     /note="early development regulator 2 (homolog of
                     polyhomeotic 2); polyhomeotic-like protein 2; early
                     development regulatory protein 2; polyhomeotic-like 2"
                     /calculated_mol_wt=90582
     Region          1..76
                     /region_name="Disordered.
                     /evidence=ECO:0000250|UniProtKB:Q9QWH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXK0.1)"
     Region          33..53
                     /region_name="Interaction with BMI1.
                     /evidence=ECO:0000250|UniProtKB:Q9QWH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXK0.1)"
     Region          67..>273
                     /region_name="PRK10118"
                     /note="flagellar hook length control protein FliK"
                     /db_xref="CDD:236652"
     Region          <196..548
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          230..307
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXK0.1)"
     Region          337..388
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXK0.1)"
     Region          407..444
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXK0.1)"
     Region          473..493
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXK0.1)"
     Region          529..561
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXK0.1)"
     Region          558..587
                     /region_name="HD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXK0.1)"
     Site            619
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IXK0.1)"
     Site            621
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IXK0.1)"
     Region          670..789
                     /region_name="PHC2_SAM_assoc"
                     /note="Unstructured region on Polyhomeotic-like protein 1
                     and 2; pfam16616"
                     /db_xref="CDD:435466"
     Region          688..720
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXK0.1)"
     Region          732..768
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXK0.1)"
     Site            751
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IXK0.1)"
     Region          789..857
                     /region_name="SAM_Ph1,2,3"
                     /note="SAM domain of Ph (polyhomeotic) proteins of
                     Polycomb group; cd09577"
                     /db_xref="CDD:188976"
     Site            order(807..808,842..843,846..847,850)
                     /site_type="other"
                     /note="oligomer interface EH [polypeptide binding]"
                     /db_xref="CDD:188976"
     Site            order(818..822,824..825,828..829,833,838)
                     /site_type="other"
                     /note="oligomer interface ML [polypeptide binding]"
                     /db_xref="CDD:188976"
     CDS             1..858
                     /gene="PHC2"
                     /gene_synonym="EDR2; HPH2; PH2"
                     /coded_by="NM_198040.3:175..2751"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS378.1"
                     /db_xref="GeneID:1912"
                     /db_xref="HGNC:HGNC:3183"
                     /db_xref="MIM:602979"
ORIGIN      
        1 menelpvpht sssacatsst sgassssgcn nsssggsgrp tgpqisvysg ipdrqtvqvi
       61 qqalhrqpst aaqylqqmya aqqqhlmlqt aalqqqhlss aqlqslaavq qaslvsnrqg
      121 stsgsnvsaq apaqsssinl aaspaaaqll nraqsvnsaa asgiaqqavl lgntsspalt
      181 asqaqmylra qmliftptat vatvqpelgt gsparpptpa qvqnltlrtq qtpaaaasgp
      241 tptqpvlpsl alkptpggsq plptpaqsrn taqaspagak pgiadsvmep hkkgdgnssv
      301 pgsmegragl srtvpavaah pliapayaql qphqllpqps skhlqpqfvi qqqpqpqqqq
      361 pppqqsrpvl qaephpqlas vspsvalqps seahamplgp vtpalplqcp tanlhkpggs
      421 qqchpptpdt gpqnghpegv phtpqrrfqh tsavilqlqp asppqqcvpd dwkevapgek
      481 svpetrsgps phqqaivtam pgglpvptsp niqpspahet gqgivhaltd lsspgmtsgn
      541 gnsassiagt apqngenkpp qaivkpqilt hviegfviqe gaepfpvgrs sllvgnlkkk
      601 yaqgflpekl pqqdhttttd semeepylqe skeegaplkl kcelcgrvdf aykfkrskrf
      661 csmacakryn vgctkrvglf hsdrsklqka gaathnrrra skaslppltk dtkkqptgtv
      721 plsvtaalql thsqedssrc sdnssyeepl spisasssts rrrqgqrdle lpdmhmrdlv
      781 gmghhflpse ptkwnvedvy efirslpgcq eiaeefraqe idgqallllk edhlmsamni
      841 klgpalkiya rismlkds
//
LOCUS       NP_001371871             402 aa            linear   PRI 29-DEC-2022
DEFINITION  protein BANP isoform m [Homo sapiens].
ACCESSION   NP_001371871
VERSION     NP_001371871.1
DBSOURCE    REFSEQ: accession NM_001384942.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 402)
  AUTHORS   Grand RS, Burger L, Grawe C, Michael AK, Isbel L, Hess D, Hoerner
            L, Iesmantavicius V, Durdu S, Pregnolato M, Krebs AR, Smallwood SA,
            Thoma N, Vermeulen M and Schubeler D.
  TITLE     BANP opens chromatin and activates CpG-island-regulated genes
  JOURNAL   Nature 596 (7870), 133-137 (2021)
   PUBMED   34234345
  REMARK    GeneRIF: BANP opens chromatin and activates CpG-island-regulated
            genes.
REFERENCE   2  (residues 1 to 402)
  AUTHORS   Bhattacharya A, Mukherjee S, Khan P, Banerjee S, Dutta A, Banerjee
            N, Sengupta D, Basak U, Chakraborty S, Dutta A, Chattopadhyay S,
            Jana K, Sarkar DK, Chatterjee S and Das T.
  TITLE     SMAR1 repression by pluripotency factors and consequent
            chemoresistance in breast cancer stem-like cells is reversed by
            aspirin
  JOURNAL   Sci Signal 13 (654) (2020)
   PUBMED   33082288
  REMARK    GeneRIF: SMAR1 repression by pluripotency factors and consequent
            chemoresistance in breast cancer stem-like cells is reversed by
            aspirin.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 402)
  AUTHORS   Alam A, Taye N, Patel S, Thube M, Mullick J, Shah VK, Pant R,
            Roychowdhury T, Banerjee N, Chatterjee S, Bhattacharya R, Roy R,
            Mukhopadhyay A, Mogare D and Chattopadhyay S.
  TITLE     SMAR1 favors immunosurveillance of cancer cells by modulating
            calnexin and MHC I expression
  JOURNAL   Neoplasia 21 (10), 945-962 (2019)
   PUBMED   31422285
  REMARK    GeneRIF: our observations establish that increased expression of
            SMAR1 in cancers can positively regulate MHC I surface expression
            thereby leading to higher chances of tumor regression and
            elimination of cancer cells.
REFERENCE   4  (residues 1 to 402)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 402)
  AUTHORS   Paul D, Ghorai S, Dinesh US, Shetty P, Chattopadhyay S and Santra
            MK.
  TITLE     Cdc20 directs proteasome-mediated degradation of the tumor
            suppressor SMAR1 in higher grades of cancer through the anaphase
            promoting complex
  JOURNAL   Cell Death Dis 8 (6), e2882 (2017)
   PUBMED   28617439
  REMARK    GeneRIF: Cdc20 functions as an important negative regulator of
            SMAR1 in higher grades of cancer
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 402)
  AUTHORS   Kaul-Ghanekar R, Majumdar S, Jalota A, Gulati N, Dubey N, Saha B
            and Chattopadhyay S.
  TITLE     Abnormal V(D)J recombination of T cell receptor beta locus in SMAR1
            transgenic mice
  JOURNAL   J Biol Chem 280 (10), 9450-9459 (2005)
   PUBMED   15623522
  REMARK    GeneRIF: SMAR1 plays an important role in the regulation of T cell
            development as well as V(D)J recombination
REFERENCE   7  (residues 1 to 402)
  AUTHORS   Kaul-Ghanekar R, Jalota A, Pavithra L, Tucker P and Chattopadhyay
            S.
  TITLE     SMAR1 and Cux/CDP modulate chromatin and act as negative regulators
            of the TCRbeta enhancer (Ebeta)
  JOURNAL   Nucleic Acids Res 32 (16), 4862-4875 (2004)
   PUBMED   15371550
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 402)
  AUTHORS   Kaul R, Mukherjee S, Ahmed F, Bhat MK, Chhipa R, Galande S and
            Chattopadhyay S.
  TITLE     Direct interaction with and activation of p53 by SMAR1 retards
            cell-cycle progression at G2/M phase and delays tumor growth in
            mice
  JOURNAL   Int J Cancer 103 (5), 606-615 (2003)
   PUBMED   12494467
REFERENCE   9  (residues 1 to 402)
  AUTHORS   Chattopadhyay S, Kaul R, Charest A, Housman D and Chen J.
  TITLE     SMAR1, a novel, alternatively spliced gene product, binds the
            Scaffold/Matrix-associated region at the T cell receptor beta locus
  JOURNAL   Genomics 68 (1), 93-96 (2000)
   PUBMED   10950932
  REMARK    GeneRIF: Identification of a novel mouse MAR-binding protein, named
            SMAR1, which shares homology with SATB1 and Cux in the MAR-binding
            domain/Cut repeat and also with the tetramerization domain of a B
            cell-specific MAR-binding protein, Bright.
REFERENCE   10 (residues 1 to 402)
  AUTHORS   Birot A, Duret L, Bartholin L, Santalucia B, Tigaud I, Magaud J and
            Rouault J.
  TITLE     Identification and molecular analysis of BANP
  JOURNAL   Gene 253 (2), 189-196 (2000)
   PUBMED   10940556
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC127455.4 and AC134312.3.
            
            Summary: This gene encodes a protein that binds to matrix
            attachment regions. The protein forms a complex with p53 and
            negatively regulates p53 transcription, and functions as a tumor
            suppressor and cell cycle regulator. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (28), as well as variant 27,
            encodes isoform m.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1633698.1,
                                           SRR18074969.3014616.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..402
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.2"
     Protein         1..402
                     /product="protein BANP isoform m"
                     /note="scaffold/matrix-associated region-1-binding
                     protein; BEN domain-containing protein 1"
                     /calculated_mol_wt=43419
     Region          154..227
                     /region_name="BEN"
                     /note="The BEN domain is found in diverse animal proteins;
                     smart01025"
                     /db_xref="CDD:214981"
     CDS             1..402
                     /gene="BANP"
                     /gene_synonym="BEND1; SMAR1; SMARBP1"
                     /coded_by="NM_001384942.1:482..1690"
                     /note="isoform m is encoded by transcript variant 28"
                     /db_xref="GeneID:54971"
                     /db_xref="HGNC:HGNC:13450"
                     /db_xref="MIM:611564"
ORIGIN      
        1 mvagsplgat qtcnkvrcvv pqttvilnnd rqnaivakme dplsnrapds lenvisnavp
       61 grrqntivvk vpgqedshhe dgesgseasd svsscgqags qsigsnvtli tlnseedypn
      121 gtwlgdennp emrvrcaiip sdmlhistnc rtaekmaltl ldylfhrevq avsnlsgqgk
      181 hgkkqldplt iygirchlfy kfgitesdwy rikqsidskc rtawrrkqrg qslavksfsr
      241 rtpnsssycp sepmmstppp aselpqpqpq pqalhyalan aqqvqihqig edgqvqvghl
      301 hiaqvpqgeq vqitqdsegn lqihhvgqdg qvlqgaqlia vassdpaaag vdgsplqgsd
      361 iqvqyvqlap vsdhtagaqt aealqptlqp emqlehgaiq iq
//
LOCUS       NP_001269655             270 aa            linear   PRI 30-DEC-2022
DEFINITION  peroxisomal membrane protein PMP34 isoform 2 [Homo sapiens].
ACCESSION   NP_001269655
VERSION     NP_001269655.1
DBSOURCE    REFSEQ: accession NM_001282726.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 270)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 270)
  AUTHORS   Aranovich A, Hua R, Rutenberg AD and Kim PK.
  TITLE     PEX16 contributes to peroxisome maintenance by constantly
            trafficking PEX3 via the ER
  JOURNAL   J Cell Sci 127 (Pt 17), 3675-3686 (2014)
   PUBMED   25002403
  REMARK    GeneRIF: PEX16 mediates the peroxisomal trafficking of two distinct
            peroxisomal membrane proteins, PEX3 and PMP34, via the endoplasmic
            reticulum
REFERENCE   3  (residues 1 to 270)
  AUTHORS   Palmieri F.
  TITLE     The mitochondrial transporter family SLC25: identification,
            properties and physiopathology
  JOURNAL   Mol Aspects Med 34 (2-3), 465-484 (2013)
   PUBMED   23266187
  REMARK    GeneRIF: Compares and contrasts all the known human SLC25A* genes
            and includes functional information.
            Review article
REFERENCE   4  (residues 1 to 270)
  AUTHORS   Agrimi G, Russo A, Scarcia P and Palmieri F.
  TITLE     The human gene SLC25A17 encodes a peroxisomal transporter of
            coenzyme A, FAD and NAD+
  JOURNAL   Biochem J 443 (1), 241-247 (2012)
   PUBMED   22185573
  REMARK    GeneRIF: SLC25A17 is a transporter for CoA and FAD, and to a lesser
            extent NAD
REFERENCE   5  (residues 1 to 270)
  AUTHORS   Rosenberg MS, Seavey BK, Jules R and Kershaw TS.
  TITLE     The role of a microfinance program on HIV risk behavior among
            Haitian women
  JOURNAL   AIDS Behav 15 (5), 911-918 (2011)
   PUBMED   21153762
REFERENCE   6  (residues 1 to 270)
  AUTHORS   Jones JM, Morrell JC and Gould SJ.
  TITLE     Multiple distinct targeting signals in integral peroxisomal
            membrane proteins
  JOURNAL   J Cell Biol 153 (6), 1141-1150 (2001)
   PUBMED   11402059
REFERENCE   7  (residues 1 to 270)
  AUTHORS   Honsho M and Fujiki Y.
  TITLE     Topogenesis of peroxisomal membrane protein requires a short,
            positively charged intervening-loop sequence and flanking
            hydrophobic segments. study using human membrane protein PMP34
  JOURNAL   J Biol Chem 276 (12), 9375-9382 (2001)
   PUBMED   11121399
REFERENCE   8  (residues 1 to 270)
  AUTHORS   Sacksteder KA, Jones JM, South ST, Li X, Liu Y and Gould SJ.
  TITLE     PEX19 binds multiple peroxisomal membrane proteins, is
            predominantly cytoplasmic, and is required for peroxisome membrane
            synthesis
  JOURNAL   J Cell Biol 148 (5), 931-944 (2000)
   PUBMED   10704444
REFERENCE   9  (residues 1 to 270)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   10 (residues 1 to 270)
  AUTHORS   Wylin T, Baes M, Brees C, Mannaerts GP, Fransen M and Van Veldhoven
            PP.
  TITLE     Identification and characterization of human PMP34, a protein
            closely related to the peroxisomal integral membrane protein PMP47
            of Candida boidinii
  JOURNAL   Eur J Biochem 258 (2), 332-338 (1998)
   PUBMED   9874197
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC397321.1, AK300553.1 and BX647991.1.
            
            Summary: This gene encodes a peroxisomal membrane protein that
            belongs to the family of mitochondrial solute carriers. It is
            expressed in the liver, and is likely involved in transport.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2013].
            
            Transcript Variant: This variant (2) contains an alternate exon in
            the 5' coding region and initiates translation at an alternate
            start codon, compared to variant 1. It encodes isoform 2, which has
            a shorter and distinct N-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK300553.1, SRR18074967.3311841.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..270
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     Protein         1..270
                     /product="peroxisomal membrane protein PMP34 isoform 2"
                     /note="peroxisomal membrane protein PMP34; solute carrier
                     family 25 (mitochondrial carrier; peroxisomal membrane
                     protein, 34kDa), member 17"
                     /calculated_mol_wt=30589
     Region          <1..58
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          60..160
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          162..254
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     CDS             1..270
                     /gene="SLC25A17"
                     /gene_synonym="PMP34"
                     /coded_by="NM_001282726.2:263..1075"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:10478"
                     /db_xref="HGNC:HGNC:10987"
                     /db_xref="MIM:606795"
ORIGIN      
        1 midekrkskt thmvlleiik eegllapyrg wfpvisslcc snfvyfytfn slkalwvkgq
       61 hsttgkdlvv gfvagvvnvl lttplwvvnt rlklqgakfr nedivptnyk giidafhqii
      121 rdegisalwn gtfpslllvf npaiqfmfye glkrqllkkr mklssldvfi igavakaiat
      181 tvtyplqtvq silrfgrhrl npenrtlgsl rnilyllhqr vrrfgimgly kgleakllqt
      241 vltaalmflv yekltaatft vmglkrahqh
//
LOCUS       NP_001339126             474 aa            linear   PRI 30-DEC-2022
DEFINITION  ankyrin repeat and sterile alpha motif domain-containing protein 1B
            isoform w [Homo sapiens].
ACCESSION   NP_001339126
VERSION     NP_001339126.1
DBSOURCE    REFSEQ: accession NM_001352197.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 474)
  AUTHORS   Yan J and Xu H.
  TITLE     Regulation of transforming growth factor-beta1 by
            circANKS1B/miR-515-5p affects the metastatic potential and
            cisplatin resistance in oral squamous cell carcinoma
  JOURNAL   Bioengineered 12 (2), 12420-12430 (2021)
   PUBMED   34781814
  REMARK    GeneRIF: Regulation of transforming growth factor-beta1 by
            circANKS1B/miR-515-5p affects the metastatic potential and
            cisplatin resistance in oral squamous cell carcinoma.
REFERENCE   2  (residues 1 to 474)
  AUTHORS   Tao LJ, Pan XY, Wang JW, Zhang L, Tao LS and Liang CZ.
  TITLE     Circular RNA circANKS1B acts as a sponge for miR-152-3p and
            promotes prostate cancer progression by upregulating TGF-alpha
            expression
  JOURNAL   Prostate 81 (5), 271-278 (2021)
   PUBMED   33556191
  REMARK    GeneRIF: Circular RNA circANKS1B acts as a sponge for miR-152-3p
            and promotes prostate cancer progression by upregulating TGF-alpha
            expression.
REFERENCE   3  (residues 1 to 474)
  AUTHORS   Carbonell AU, Cho CH, Tindi JO, Counts PA, Bates JC,
            Erdjument-Bromage H, Cvejic S, Iaboni A, Kvint I, Rosensaft J,
            Banne E, Anagnostou E, Neubert TA, Scherer SW, Molholm S and Jordan
            BA.
  TITLE     Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a
            neurodevelopmental syndrome
  JOURNAL   Nat Commun 10 (1), 3529 (2019)
   PUBMED   31388001
  REMARK    GeneRIF: Study describe monogenic copy-number variations in ANKS1B
            in individuals that display a previously undefined spectrum of
            neurodevelopmental phenotypes that authors term ANKS1B
            haploinsufficiency syndrome.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 474)
  AUTHORS   Zeng K, He B, Yang BB, Xu T, Chen X, Xu M, Liu X, Sun H, Pan Y and
            Wang S.
  TITLE     The pro-metastasis effect of circANKS1B in breast cancer
  JOURNAL   Mol Cancer 17 (1), 160 (2018)
   PUBMED   30454010
  REMARK    GeneRIF: Our data uncover an essential role of the novel circular
            RNA circANKS1B in the metastasis of breast cancer, which
            demonstrate that therapeutic targeting of circANKS1B may better
            prevent breast cancer metastasis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 474)
  AUTHORS   Ghersi E, Noviello C and D'Adamio L.
  TITLE     Amyloid-beta protein precursor (AbetaPP) intracellular
            domain-associated protein-1 proteins bind to AbetaPP and modulate
            its processing in an isoform-specific manner
  JOURNAL   J Biol Chem 279 (47), 49105-49112 (2004)
   PUBMED   15347684
  REMARK    GeneRIF: the interaction between AbetaPP and AIDA-1 is regulated by
            alternative splicing of the AIDA-1 protein
REFERENCE   6  (residues 1 to 474)
  AUTHORS   Ghersi E, Vito P, Lopez P, Abdallah M and D'Adamio L.
  TITLE     The intracellular localization of amyloid beta protein precursor
            (AbetaPP) intracellular domain associated protein-1 (AIDA-1) is
            regulated by AbetaPP and alternative splicing
  JOURNAL   J Alzheimers Dis 6 (1), 67-78 (2004)
   PUBMED   15004329
  REMARK    GeneRIF: AbetaPP and the AIDA-1 proteins interact in vitro, in
            living cells and, endogenously, in leukemia cell lines;AIDA-1
            proteins are expressed at high levels in the brain
REFERENCE   7  (residues 1 to 474)
  AUTHORS   LeBrun DP.
  TITLE     E2A basic helix-loop-helix transcription factors in human leukemia
  JOURNAL   Front Biosci 8, s206-s222 (2003)
   PUBMED   12700034
  REMARK    GeneRIF: Evidence pertaining to leukemogenesis by the
            well-characterized E2A-fusion protein E2A-PBX1 is reviewed and its
            mechanistic implications are considered.
            Review article
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 474)
  AUTHORS   Petersen HH, Hilpert J, Militz D, Zandler V, Jacobsen C, Roebroek
            AJ and Willnow TE.
  TITLE     Functional interaction of megalin with the megalinbinding protein
            (MegBP), a novel tetratrico peptide repeat-containing adaptor
            molecule
  JOURNAL   J Cell Sci 116 (Pt 3), 453-461 (2003)
   PUBMED   12508107
REFERENCE   9  (residues 1 to 474)
  AUTHORS   Wiemels JL, Leonard BC, Wang Y, Segal MR, Hunger SP, Smith MT,
            Crouse V, Ma X, Buffler PA and Pine SR.
  TITLE     Site-specific translocation and evidence of postnatal origin of the
            t(1;19) E2A-PBX1 fusion in childhood acute lymphoblastic leukemia
  JOURNAL   Proc Natl Acad Sci U S A 99 (23), 15101-15106 (2002)
   PUBMED   12415113
  REMARK    GeneRIF: site-specific translocation and evidence of postnatal
            origin of the t(1;19) fusion in childhood acute lymphoblastic
            leukemia
REFERENCE   10 (residues 1 to 474)
  AUTHORS   Fu X, McGrath S, Pasillas M, Nakazawa S and Kamps MP.
  TITLE     EB-1, a tyrosine kinase signal transduction gene, is
            transcriptionally activated in the t(1;19) subset of pre-B ALL,
            which express oncoprotein E2a-Pbx1
  JOURNAL   Oncogene 18 (35), 4920-4929 (1999)
   PUBMED   10490826
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079954.18, AC117377.9,
            AC008126.9 and AC011248.8.
            
            Summary: This gene encodes a multi-domain protein that is
            predominantly expressed in brain and testis. This protein interacts
            with amyloid beta protein precursor (AbetaPP) and may have a role
            in normal brain development, and in the pathogenesis of Alzheimer's
            disease. Expression of this gene has been shown to be elevated in
            patients with pre-B cell acute lymphocytic leukemia associated with
            t(1;19) translocation. Alternatively spliced transcript variants
            encoding different isoforms (some with different subcellular
            localization, PMID:15004329) have been described for this gene.
            [provided by RefSeq, Aug 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968189
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..474
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     Protein         1..474
                     /product="ankyrin repeat and sterile alpha motif
                     domain-containing protein 1B isoform w"
                     /note="E2a-Pbx1-associated protein; amyloid-beta precursor
                     protein intracellular domain associated protein 1; cajalin
                     2"
                     /calculated_mol_wt=53737
     Region          37..103
                     /region_name="SAM_AIDA1AB-like_repeat1"
                     /note="SAM domain of AIDA1AB-like proteins, repeat 1;
                     cd09499"
                     /db_xref="CDD:188898"
     Site            order(59..62,64,66..67,70..71,73..74,77,80..81)
                     /site_type="other"
                     /note="intramolecular dimer interface ML [polypeptide
                     binding]"
                     /db_xref="CDD:188898"
     Region          108..172
                     /region_name="SAM_AIDA1AB-like_repeat2"
                     /note="SAM domain of AIDA1AB-like proteins, repeat 2;
                     cd09500"
                     /db_xref="CDD:188899"
     Site            order(158..161,163..164)
                     /site_type="other"
                     /note="intramolecular dimer interface EH [polypeptide
                     binding]"
                     /db_xref="CDD:188899"
     Region          272..421
                     /region_name="PTB_Anks"
                     /note="Ankyrin repeat and sterile alpha motif (SAM)
                     domain-containing (Anks) protein family
                     Phosphotyrosine-binding (PTB) domain; cd01274"
                     /db_xref="CDD:269972"
     Site            order(291,370,390)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269972"
     Site            order(359..364,377,401,405)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269972"
     CDS             1..474
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /coded_by="NM_001352197.2:275..1699"
                     /note="isoform w is encoded by transcript variant 26"
                     /db_xref="GeneID:56899"
                     /db_xref="HGNC:HGNC:24600"
                     /db_xref="MIM:607815"
ORIGIN      
        1 mmwqchlsaq dyryypvdgy sllkrfplhp ltgprcpvqt vgqwlesigl pqyenhlman
       61 gfdnvqfmgs nvmedqdlle igilnsghrq rilqaiqllp kmrpighdgy hptsvaewld
      121 sielgdytka flingytsmd llkkiwevel invlkinlig hrkrilaslg drlhddppqk
      181 pprsitlrep sgnhtppqls pslsqstytt ggsldvphii mqgdarrrrn enyfddiprs
      241 klerqmaqtg dwgepsitlr ppneatastp vqywqhhpek lifqscdyka fylgsmlike
      301 lrgtestqda cakmrancqk steqmkkvpt iilsvsykgv kfidatnkni iaeheirnis
      361 caaqdpedls tfayitkdlk snhhychvft afdvnlayei iltlgqafev ayqlalqark
      421 gghsstlpes fenkpskpip kprvsirksv dllhashtgq epserhteea lrkf
//
LOCUS       NP_001257380             244 aa            linear   PRI 31-DEC-2022
DEFINITION  ubiquitin-protein ligase E3B isoform 3 [Homo sapiens].
ACCESSION   NP_001257380
VERSION     NP_001257380.1
DBSOURCE    REFSEQ: accession NM_001270451.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 244)
  AUTHORS   Li K, Wang F, Yang ZN, Zhang TT, Yuan YF, Zhao CX, Yeerjiang Z, Cui
            B, Hua F, Lv XX, Zhang XW, Yu JJ, Liu SS, Yu JM, Shang S, Xiao Y
            and Hu ZW.
  TITLE     TRIB3 promotes MYC-associated lymphoma development through
            suppression of UBE3B-mediated MYC degradation
  JOURNAL   Nat Commun 11 (1), 6316 (2020)
   PUBMED   33298911
  REMARK    GeneRIF: TRIB3 promotes MYC-associated lymphoma development through
            suppression of UBE3B-mediated MYC degradation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 244)
  AUTHORS   Zaki MS, Otaify GA, Ismail S, Issa MY, El-Ruby MO, Sadek AA, Ashaat
            EA, El Saeidi SA, Aglan MS, Temtamy S and Abdel-Hamid MS.
  TITLE     Blepharophimosis-ptosis-intellectual disability syndrome: A report
            of nine Egyptian patients with further expansion of phenotypic and
            mutational spectrum
  JOURNAL   Am J Med Genet A 182 (12), 2857-2866 (2020)
   PUBMED   32949109
  REMARK    GeneRIF: Blepharophimosis-ptosis-intellectual disability syndrome:
            A report of nine Egyptian patients with further expansion of
            phenotypic and mutational spectrum.
REFERENCE   3  (residues 1 to 244)
  AUTHORS   Yilmaz R, Szakszon K, Altmann A, Altunoglu U, Senturk L, McGuire M,
            Calabrese O, Madan-Khetarpal S, Basel-Vanagaite L and Borck G.
  TITLE     Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and
            clinical features in four unrelated patients
  JOURNAL   Am J Med Genet A 176 (1), 187-193 (2018)
   PUBMED   29160006
  REMARK    GeneRIF: we present four patients with five novel UBE3B mutations
            and propose the inclusion of clinical features to the
            characteristics of Kaufman oculocerebrofacial syndrome, including
            prominence of the cheeks and limb anomalies.
REFERENCE   4  (residues 1 to 244)
  AUTHORS   Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A,
            Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC and Campeau
            PM.
  TITLE     Kaufman oculo-cerebro-facial syndrome in a child with small and
            absent terminal phalanges and absent nails
  JOURNAL   J Hum Genet 62 (4), 465-471 (2017)
   PUBMED   28003643
  REMARK    GeneRIF: Sanger sequencing was negative for the DOORS syndrome gene
            TBC1D24 but exome sequencing identified a homozygous deletion in
            UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the
            terminal portion of the HECT domain
REFERENCE   5  (residues 1 to 244)
  AUTHORS   Braganza A, Li J, Zeng X, Yates NA, Dey NB, Andrews J, Clark J,
            Zamani L, Wang XH, St Croix C, O'Sullivan R, Garcia-Exposito L,
            Brodsky JL and Sobol RW.
  TITLE     UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3
            Ubiquitin Ligase
  JOURNAL   J Biol Chem 292 (6), 2470-2484 (2017)
   PUBMED   28003368
  REMARK    GeneRIF: studies demonstrate that UBE3B is an E3 ubiquitin ligase
            and reveal that the enzyme is regulated by calmodulin. Furthermore,
            the modulation of UBE3B via calmodulin and calcium implicates a
            role for calcium signaling in mitochondrial protein ubiquitylation,
            protein turnover, and disease
            GeneRIF: The E3 ligase activity of UBE3B is regulated by its
            interaction with calmodulin via the N-terminal IQ domain.
REFERENCE   6  (residues 1 to 244)
  AUTHORS   Szafranski K, Schindler S, Taudien S, Hiller M, Huse K, Jahn N,
            Schreiber S, Backofen R and Platzer M.
  TITLE     Violating the splicing rules: TG dinucleotides function as
            alternative 3' splice sites in U2-dependent introns
  JOURNAL   Genome Biol 8 (8), R154 (2007)
   PUBMED   17672918
  REMARK    GeneRIF: the apparent occurrence of an unusual TG 3' splice site in
            intron 25 is discussed
REFERENCE   7  (residues 1 to 244)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   8  (residues 1 to 244)
  AUTHORS   Gong TW, Huang L, Warner SJ and Lomax MI.
  TITLE     Characterization of the human UBE3B gene: structure, expression,
            evolution, and alternative splicing
  JOURNAL   Genomics 82 (2), 143-152 (2003)
   PUBMED   12837265
  REMARK    GeneRIF: UBE3B is a novel E3 ligase, with a HECT-domain which
            constitutes the active site for ubiquitin transfer
REFERENCE   9  (residues 1 to 244)
  AUTHORS   Lomax MI, Gong TW, Cho Y, Huang L, Oh SH, Adler HJ, Raphael Y and
            Altschuler RA.
  TITLE     Differential Gene Expression Following Noise Trauma in Birds and
            Mammals
  JOURNAL   Noise Health 3 (11), 19-35 (2001)
   PUBMED   12689446
REFERENCE   10 (residues 1 to 244)
  AUTHORS   Lomax MI, Huang L, Cho Y, Gong TL and Altschuler RA.
  TITLE     Differential display and gene arrays to examine auditory plasticity
  JOURNAL   Hear Res 147 (1-2), 293-302 (2000)
   PUBMED   10962193
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA771082.1, BC068221.1 and
            BC108705.1.
            
            Summary: The modification of proteins with ubiquitin is an
            important cellular mechanism for targeting abnormal or short-lived
            proteins for degradation. Ubiquitination involves at least three
            classes of enzymes: E1 ubiquitin-activating enzymes, E2
            ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases.
            This gene encodes a member of the E3 ubiquitin-conjugating enzyme
            family which accepts ubiquitin from an E2 ubiquitin-conjugating
            enzyme and transfers the ubiquitin to the targeted substrates. A
            HECT (homology to E6-AP C-terminus) domain in the C-terminus of the
            longer isoform of this protein is the catalytic site of ubiquitin
            transfer and forms a complex with E2 conjugases. Shorter isoforms
            of this protein which lack the C-terminal HECT domain are therefore
            unlikely to bind E2 enzymes. Alternatively spliced transcript
            variants encoding distinct isoforms have been identified for this
            gene. [provided by RefSeq, Jul 2012].
            
            Transcript Variant: This variant (6) uses an alternate splice site
            in the 5' UTR and contains an alternate 3' exon, compared to
            variant 1. These differences result in a distinct 3' UTR and 3'
            coding region and a protein (isoform 3) with a shorter and distinct
            C-terminus, compared to isoform 1. Variants 4-6 encode the same
            protein (isoform 3).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC068221.1, BQ928951.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..244
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     Protein         1..244
                     /product="ubiquitin-protein ligase E3B isoform 3"
                     /EC_number="2.3.2.26"
                     /note="HECT-type ubiquitin transferase E3B"
                     /calculated_mol_wt=28803
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q7Z3V4.3)"
     CDS             1..244
                     /gene="UBE3B"
                     /gene_synonym="BPIDS; KOS"
                     /coded_by="NM_001270451.2:271..1005"
                     /note="isoform 3 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS58277.1"
                     /db_xref="GeneID:89910"
                     /db_xref="HGNC:HGNC:13478"
                     /db_xref="MIM:608047"
ORIGIN      
        1 mftlsqtsra wfidrarqar eerlvqkere raavviqahv rsflcrsrlq rdirreiddf
       61 fkaddpestk rsalcifkia rkllflfrik ednerfeklc rsilssmdae nepkvwyvsl
      121 acskdltllw iqqiknilwy ccdflkqlkp eilqdsrlit lyltmlvtft dtstwkilrg
      181 kgeslrpamn hicanimghl nqhgfysvlq ccdglfpdlv syaphnnpvr wsvgrswydw
      241 qlsr
//
LOCUS       NP_001375133             757 aa            linear   PRI 31-DEC-2022
DEFINITION  rap1 GTPase-activating protein 1 isoform 17 [Homo sapiens].
ACCESSION   NP_001375133
VERSION     NP_001375133.1
DBSOURCE    REFSEQ: accession NM_001388204.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 757)
  AUTHORS   Faam B, Ghadiri AA, Ghaffari MA, Totonchi M, Amouzegar A, Azizi F,
            Shahbazian H, Hashemitabar M, Fanaei SA and Khorsandi L.
  TITLE     CpG Island Methylation of the Rap1Gap Gene in Medullary Thyroid
            Cancer
  JOURNAL   Arch Iran Med 25 (3), 171-177 (2022)
   PUBMED   35429959
  REMARK    GeneRIF: CpG Island Methylation of the Rap1Gap Gene in Medullary
            Thyroid Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 757)
  AUTHORS   Shi S, Li J, Li E, Guo W, He Y, Wang J, Zhang Y, Yue L and Wei L.
  TITLE     Simulated Microgravity Increases the Permeability of HUVEC
            Monolayer through Up-Regulation of Rap1GAP and Decreased Rap2
            Activation
  JOURNAL   Int J Mol Sci 23 (2), 630 (2022)
   PUBMED   35054818
  REMARK    GeneRIF: Simulated Microgravity Increases the Permeability of HUVEC
            Monolayer through Up-Regulation of Rap1GAP and Decreased Rap2
            Activation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 757)
  AUTHORS   Yan Z, Yangyanqiu W, Shuwen H, Jing M, Haihong L, Gong C, Yin J,
            Qing Z and Weili G.
  TITLE     Downregulation of Rap1GAP Expression Activates the TGF-beta/Smad3
            Pathway to Inhibit the Expression of Sodium/Iodine Transporter in
            Papillary Thyroid Carcinoma Cells
  JOURNAL   Biomed Res Int 2021, 6840642 (2021)
   PUBMED   34840979
  REMARK    GeneRIF: Downregulation of Rap1GAP Expression Activates the
            TGF-beta/Smad3 Pathway to Inhibit the Expression of Sodium/Iodine
            Transporter in Papillary Thyroid Carcinoma Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 757)
  AUTHORS   Faam B, Ghaffari MA, Khorsandi L, Ghadiri AA, Totonchi M, Amouzegar
            A, Fanaei SA, Azizi F, Shahbazian HB and Hashemi Tabar M.
  TITLE     RAP1GAP Functions as a Tumor Suppressor Gene and Is Regulated by
            DNA Methylation in Differentiated Thyroid Cancer
  JOURNAL   Cytogenet Genome Res 161 (5), 227-235 (2021)
   PUBMED   34311462
  REMARK    GeneRIF: RAP1GAP Functions as a Tumor Suppressor Gene and Is
            Regulated by DNA Methylation in Differentiated Thyroid Cancer.
REFERENCE   5  (residues 1 to 757)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (residues 1 to 757)
  AUTHORS   Kurachi H, Wada Y, Tsukamoto N, Maeda M, Kubota H, Hattori M, Iwai
            K and Minato N.
  TITLE     Human SPA-1 gene product selectively expressed in lymphoid tissues
            is a specific GTPase-activating protein for Rap1 and Rap2.
            Segregate expression profiles from a rap1GAP gene product
  JOURNAL   J Biol Chem 272 (44), 28081-28088 (1997)
   PUBMED   9346962
REFERENCE   7  (residues 1 to 757)
  AUTHORS   Peterson SN, Trabalzini L, Brtva TR, Fischer T, Altschuler DL,
            Martelli P, Lapetina EG, Der CJ and White GC 2nd.
  TITLE     Identification of a novel RalGDS-related protein as a candidate
            effector for Ras and Rap1
  JOURNAL   J Biol Chem 271 (47), 29903-29908 (1996)
   PUBMED   8939933
REFERENCE   8  (residues 1 to 757)
  AUTHORS   Weiss J, Rubinfeld B, Polakis PG, McCormick F, Cavenee WK and Arden
            KC.
  TITLE     The RAP1GA1 locus for human Rap1-GTPase activating protein 1 maps
            to chromosome 1p36.1-->p35
  JOURNAL   Cytogenet Cell Genet 66 (1), 18-21 (1994)
   PUBMED   8275700
REFERENCE   9  (residues 1 to 757)
  AUTHORS   Rubinfeld B, Crosier WJ, Albert I, Conroy L, Clark R, McCormick F
            and Polakis P.
  TITLE     Localization of the rap1GAP catalytic domain and sites of
            phosphorylation by mutational analysis
  JOURNAL   Mol Cell Biol 12 (10), 4634-4642 (1992)
   PUBMED   1406653
REFERENCE   10 (residues 1 to 757)
  AUTHORS   Rubinfeld B, Munemitsu S, Clark R, Conroy L, Watt K, Crosier WJ,
            McCormick F and Polakis P.
  TITLE     Molecular cloning of a GTPase activating protein specific for the
            Krev-1 protein p21rap1
  JOURNAL   Cell 65 (6), 1033-1042 (1991)
   PUBMED   1904317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359815.26.
            
            Summary: This gene encodes a type of GTPase-activating-protein
            (GAP) that down-regulates the activity of the ras-related RAP1
            protein. RAP1 acts as a molecular switch by cycling between an
            inactive GDP-bound form and an active GTP-bound form. The product
            of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and
            hence returns RAP1 to the inactive state whereas other proteins,
            guanine nucleotide exchange factors (GEFs), act as RAP1 activators
            by facilitating the conversion of RAP1 from the GDP- to the
            GTP-bound form. In general, ras subfamily proteins, such as RAP1,
            play key roles in receptor-linked signaling pathways that control
            cell growth and differentiation. RAP1 plays a role in diverse
            processes such as cell proliferation, adhesion, differentiation,
            and embryogenesis. Alternative splicing results in multiple
            transcript variants encoding distinct proteins. [provided by
            RefSeq, Aug 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.239419.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..757
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     Protein         1..757
                     /product="rap1 GTPase-activating protein 1 isoform 17"
                     /note="rap1 GTPase-activating protein 1"
                     /calculated_mol_wt=83327
     Region          1..23
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P47736.2)"
     Region          <1..17
                     /region_name="GoLoco"
                     /note="GoLoco motif; pfam02188"
                     /db_xref="CDD:426645"
     Site            17
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P47736.2)"
     Region          211..390
                     /region_name="Rap_GAP"
                     /note="Rap/ran-GAP; pfam02145"
                     /db_xref="CDD:426620"
     Site            441
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P47736.2)"
     Region          442..604
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P47736.2)"
     Site            484
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P47736.2)"
     Site            499
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P47736.2)"
     Site            515
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P47736.2)"
     Site            541
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A2ALS5; propagated from
                     UniProtKB/Swiss-Prot (P47736.2)"
     Site            542
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A2ALS5; propagated from
                     UniProtKB/Swiss-Prot (P47736.2)"
     Region          616..645
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P47736.2)"
     CDS             1..757
                     /gene="RAP1GAP"
                     /gene_synonym="RAP1GA1; RAP1GAP1; RAP1GAPII; RAPGAP"
                     /coded_by="NM_001388204.1:253..2526"
                     /note="isoform 17 is encoded by transcript variant 14"
                     /db_xref="GeneID:5909"
                     /db_xref="HGNC:HGNC:9858"
                     /db_xref="MIM:600278"
ORIGIN      
        1 miekmqgsrm deqrcsfppp lkteedyipy psvhevlgre gpfplillpq fggywiegtn
       61 heitsipete plqspttkvk lecnptariy rkhflgkehf nyysldaalg hlvfslkydv
      121 igdqehlrll lrtkcrtyhd vipiscltef pnvvqmaklv cedvnvdrfy pvlypkasrl
      181 ivtfdehvis nnfkfgviyq klgqtseeel fstneespaf vefleflgqk vklqdfkgfr
      241 ggldvthgqt gtesvycnfr nkeimfhvst klpytegdaq qlqrkrhign divavvfqde
      301 ntpfvpdmia snflhayvvv qaegggpdgp lykvsvtard dvpffgpplp dpavfrkgpe
      361 fqeflltkli naeyacykae kfakleertr aalletlyee lhihsqsmmg lggdedkmen
      421 gsggggffes fkrvirsrsq smdamglsnk kpntvstshs gsfapnnpdl akaagisliv
      481 pgksptrkks gpfgsrrssa igieniqevq ekresppagq ktpdsghvsq epksensstq
      541 sspempttkn raetaaqrae alkdfsrsss sassfasvve etegvdgedt glesvsssgt
      601 phkrdsfiys twledsvstt sggsspgpsr sphpdagklg dpacpeikiq leaseqhmpq
      661 lmrpqkhkgk vpcqaqadet salktntspw aapclptlpm ahpsglslqg ravqtwdqgs
      721 cwhrphpqpg glgwgrdcsv eaglgvwlap slglhhp
//
LOCUS       NP_001399064             220 aa            linear   PRI 22-JAN-2023
DEFINITION  odorant-binding protein 2a isoform 5 precursor [Homo sapiens].
ACCESSION   NP_001399064
VERSION     NP_001399064.1
DBSOURCE    REFSEQ: accession NM_001412135.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 220)
  AUTHORS   Jeong JH, Zhong S, Li F, Huang C, Chen X, Liu Q, Peng S, Park H,
            Lee YM, Dhillon J and Luo JL.
  TITLE     Tumor-derived OBP2A promotes prostate cancer castration resistance
  JOURNAL   J Exp Med 220 (3) (2023)
   PUBMED   36547668
  REMARK    GeneRIF: Tumor-derived OBP2A promotes prostate cancer castration
            resistance.
REFERENCE   2  (residues 1 to 220)
  AUTHORS   Sollai G, Melis M, Tomassini Barbarossa I and Crnjar R.
  TITLE     A polymorphism in the human gene encoding OBPIIa affects the
            perceived intensity of smelled odors
  JOURNAL   Behav Brain Res 427, 113860 (2022)
   PUBMED   35341882
  REMARK    GeneRIF: A polymorphism in the human gene encoding OBPIIa affects
            the perceived intensity of smelled odors.
REFERENCE   3  (residues 1 to 220)
  AUTHORS   Melis M, Tomassini Barbarossa I, Hummel T, Crnjar R and Sollai G.
  TITLE     Effect of the rs2890498 polymorphism of the OBPIIa gene on the
            human ability to smell single molecules
  JOURNAL   Behav Brain Res 402, 113127 (2021)
   PUBMED   33422593
  REMARK    GeneRIF: Effect of the rs2890498 polymorphism of the OBPIIa gene on
            the human ability to smell single molecules.
REFERENCE   4  (residues 1 to 220)
  AUTHORS   Sollai G, Melis M, Mastinu M, Paduano D, Chicco F, Magri S, Usai P,
            Hummel T, Barbarossa IT and Crnjar R.
  TITLE     Olfactory Function in Patients with Inflammatory Bowel Disease
            (IBD) Is Associated with Their Body Mass Index and Polymorphism in
            the Odor Binding-Protein (OBPIIa) Gene
  JOURNAL   Nutrients 13 (2), 703 (2021)
   PUBMED   33671721
  REMARK    GeneRIF: Olfactory Function in Patients with Inflammatory Bowel
            Disease (IBD) Is Associated with Their Body Mass Index and
            Polymorphism in the Odor Binding-Protein (OBPIIa) Gene.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 220)
  AUTHORS   Melis M, Pintus S, Mastinu M, Fantola G, Moroni R, Pepino MY and
            Barbarossa IT.
  TITLE     Changes of Taste, Smell and Eating Behavior in Patients Undergoing
            Bariatric Surgery: Associations with PROP Phenotypes and
            Polymorphisms in the Odorant-Binding Protein OBPIIa and CD36
            Receptor Genes
  JOURNAL   Nutrients 13 (1), 250 (2021)
   PUBMED   33467165
  REMARK    GeneRIF: Changes of Taste, Smell and Eating Behavior in Patients
            Undergoing Bariatric Surgery: Associations with PROP Phenotypes and
            Polymorphisms in the Odorant-Binding Protein OBPIIa and CD36
            Receptor Genes.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 220)
  AUTHORS   Breustedt DA, Schonfeld DL and Skerra A.
  TITLE     Comparative ligand-binding analysis of ten human lipocalins
  JOURNAL   Biochim Biophys Acta 1764 (2), 161-173 (2006)
   PUBMED   16461020
REFERENCE   7  (residues 1 to 220)
  AUTHORS   Matarazzo V, Zsurger N, Guillemot JC, Clot-Faybesse O, Botto JM,
            Dal Farra C, Crowe M, Demaille J, Vincent JP, Mazella J and Ronin
            C.
  TITLE     Porcine odorant-binding protein selectively binds to a human
            olfactory receptor
  JOURNAL   Chem Senses 27 (8), 691-701 (2002)
   PUBMED   12379593
REFERENCE   8  (residues 1 to 220)
  AUTHORS   Briand L, Eloit C, Nespoulous C, Bezirard V, Huet JC, Henry C, Blon
            F, Trotier D and Pernollet JC.
  TITLE     Evidence of an odorant-binding protein in the human olfactory
            mucus: location, structural characterization, and odorant-binding
            properties
  JOURNAL   Biochemistry 41 (23), 7241-7252 (2002)
   PUBMED   12044155
  REMARK    GeneRIF: hOBPIIa(alpha) is expressed in the nasal mucus covering
            the olfactory cleft and is able to bind numerous odorants of
            diverse chemical structures, with a higher affinity for aldehydes
            and large fatty acids.
REFERENCE   9  (residues 1 to 220)
  AUTHORS   Tegoni M, Pelosi P, Vincent F, Spinelli S, Campanacci V, Grolli S,
            Ramoni R and Cambillau C.
  TITLE     Mammalian odorant binding proteins
  JOURNAL   Biochim Biophys Acta 1482 (1-2), 229-240 (2000)
   PUBMED   11058764
  REMARK    Review article
REFERENCE   10 (residues 1 to 220)
  AUTHORS   Lacazette E, Gachon AM and Pitiot G.
  TITLE     A novel human odorant-binding protein gene family resulting from
            genomic duplicons at 9q34: differential expression in the oral and
            genital spheres
  JOURNAL   Hum Mol Genet 9 (2), 289-301 (2000)
   PUBMED   10607840
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CP068269.2.
            
            Summary: This gene encodes a small extracellular protein belonging
            to the lipocalin superfamily. The protein is thought to transport
            small, hydrophobic, volatile molecules or odorants through the
            nasal mucus to olfactory receptors, and may also function as a
            scavenger of highly concentrated or toxic odors. The protein is
            expressed as a monomer in the nasal mucus, and can bind diverse
            types of odorants with a higher affinity for aldehydes and fatty
            acids. This gene and a highly similar family member are located in
            a cluster of lipocalin genes on chromosome 9. Alternatively spliced
            transcript variants have been described, but their biological
            validity has not been determined. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ251024.1, BC143803.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..220
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     Protein         1..220
                     /product="odorant-binding protein 2a isoform 5 precursor"
                     /note="putative odorant-binding protein 2c;
                     odorant-binding protein IIa"
                     /calculated_mol_wt=23273
     sig_peptide     1..15
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1506
     Region          21..>133
                     /region_name="lipocalin_1_3_4_13-like"
                     /note="lipocalin-1, -3, -4, -13 and similar proteins;
                     cd19414"
                     /db_xref="CDD:381189"
     Site            order(25,29,40,52,54,62,64,66,77,79,81,90,92,96..97,99,
                     101,110,112,114,123,125,127,129)
                     /site_type="other"
                     /note="ligand binding cavity [chemical binding]"
                     /db_xref="CDD:381189"
     Site            order(40,77,96..97,123,125)
                     /site_type="other"
                     /note="citrate-binding site [ion binding]"
                     /db_xref="CDD:381189"
     CDS             1..220
                     /gene="OBP2A"
                     /gene_synonym="hOBPIIa; LCN13; OBP; OBP2C; OBPIIa"
                     /coded_by="NM_001412135.1:56..718"
                     /note="isoform 5 precursor is encoded by transcript
                     variant 5"
                     /db_xref="GeneID:29991"
                     /db_xref="HGNC:HGNC:23380"
                     /db_xref="MIM:164320"
ORIGIN      
        1 mktlflgvtl glaaalsftl eeeditgtwy vkamvvdkdf pedrrprkvs pvkvtalggg
       61 nleatftfmr edrciqkkil mrkteepgkf sayggrkliy lqelpgtddy vfyckdqrrg
      121 glchmgklva sapcravpls ppwltwpphl qlgiliptwr pwknlrnwcs trdsprrtfs
      181 rpcrreaafp ntrqppgsap peptlppdte pgppgptlqp
//
LOCUS       NP_009060                532 aa            linear   PRI 12-MAR-2023
DEFINITION  zinc finger protein ZIC 2 [Homo sapiens].
ACCESSION   NP_009060
VERSION     NP_009060.2
DBSOURCE    REFSEQ: accession NM_007129.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 532)
  AUTHORS   Liu F, Shi Z, Bao W, Zheng J, Chen K, Lin Z, Song HN, Luo X, Dong
            Q, Jiang L, Wang Y, Chen G and Chen X.
  TITLE     ZIC2 promotes colorectal cancer growth and metastasis through the
            TGF-beta signaling pathway
  JOURNAL   Exp Cell Res 415 (2), 113118 (2022)
   PUBMED   35390314
  REMARK    GeneRIF: ZIC2 promotes colorectal cancer growth and metastasis
            through the TGF-beta signaling pathway.
REFERENCE   2  (residues 1 to 532)
  AUTHORS   Cai P, Li G, Wu M, Zhang B and Bai H.
  TITLE     ZIC2 upregulates lncRNA SNHG12 expression to promote endometrial
            cancer cell proliferation and migration by activating the Notch
            signaling pathway
  JOURNAL   Mol Med Rep 24 (3) (2021)
   PUBMED   34278490
  REMARK    GeneRIF: ZIC2 upregulates lncRNA SNHG12 expression to promote
            endometrial cancer cell proliferation and migration by activating
            the Notch signaling pathway.
REFERENCE   3  (residues 1 to 532)
  AUTHORS   Wei W, Zhao X, Liu J and Zhang Z.
  TITLE     Downregulation of LINC00665 suppresses the progression of lung
            adenocarcinoma via regulating miR-181c-5p/ZIC2 axis
  JOURNAL   Aging (Albany NY) 13 (13), 17499-17515 (2021)
   PUBMED   34232917
  REMARK    GeneRIF: Downregulation of LINC00665 suppresses the progression of
            lung adenocarcinoma via regulating miR-181c-5p/ZIC2 axis.
REFERENCE   4  (residues 1 to 532)
  AUTHORS   Xu Z, Zheng J, Chen Z, Guo J, Li X, Wang X, Qu C, Yuan L, Cheng C,
            Sun X and Yu J.
  TITLE     Multilevel regulation of Wnt signaling by Zic2 in colon cancer due
            to mutation of beta-catenin
  JOURNAL   Cell Death Dis 12 (6), 584 (2021)
   PUBMED   34099631
  REMARK    GeneRIF: Multilevel regulation of Wnt signaling by Zic2 in colon
            cancer due to mutation of beta-catenin.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 532)
  AUTHORS   Castilla-Vallmanya L, Gursoy S, Giray-Bozkaya O, Prat-Planas A,
            Bullich G, Matalonga L, Centeno-Pla M, Rabionet R, Grinberg D,
            Balcells S and Urreizti R.
  TITLE     De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family
  JOURNAL   Int J Mol Sci 22 (4), 1549 (2021)
   PUBMED   33557041
  REMARK    GeneRIF: De Novo PORCN and ZIC2 Mutations in a Highly
            Consanguineous Family.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 532)
  AUTHORS   Koyabu Y, Nakata K, Mizugishi K, Aruga J and Mikoshiba K.
  TITLE     Physical and functional interactions between Zic and Gli proteins
  JOURNAL   J Biol Chem 276 (10), 6889-6892 (2001)
   PUBMED   11238441
REFERENCE   7  (residues 1 to 532)
  AUTHORS   Salero E, Perez-Sen R, Aruga J, Gimenez C and Zafra F.
  TITLE     Transcription factors Zic1 and Zic2 bind and transactivate the
            apolipoprotein E gene promoter
  JOURNAL   J Biol Chem 276 (3), 1881-1888 (2001)
   PUBMED   11038359
REFERENCE   8  (residues 1 to 532)
  AUTHORS   Yang Y, Hwang CK, Junn E, Lee G and Mouradian MM.
  TITLE     ZIC2 and Sp3 repress Sp1-induced activation of the human D1A
            dopamine receptor gene
  JOURNAL   J Biol Chem 275 (49), 38863-38869 (2000)
   PUBMED   10984499
REFERENCE   9  (residues 1 to 532)
  AUTHORS   Brown SA, Warburton D, Brown LY, Yu CY, Roeder ER,
            Stengel-Rutkowski S, Hennekam RC and Muenke M.
  TITLE     Holoprosencephaly due to mutations in ZIC2, a homologue of
            Drosophila odd-paired
  JOURNAL   Nat Genet 20 (2), 180-183 (1998)
   PUBMED   9771712
REFERENCE   10 (residues 1 to 532)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301702
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Laure Lemmens. The reference sequence was
            derived from AL355338.33, AF193855.1 and AA491603.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 29, 2002 this sequence version replaced NP_009060.1.
            
            Summary: This gene encodes a member of the ZIC family of C2H2-type
            zinc finger proteins. This protein functions as a transcriptional
            repressor and may regulate tissue specific expression of dopamine
            receptor D1. Expansion of an alanine repeat in the C-terminus of
            the encoded protein and other mutations in this gene cause
            holoprosencephaly type 5. Holoprosencephaly is the most common
            structural anomaly of the human brain. A polyhistidine tract
            polymorphism in this gene may be associated with increased risk of
            neural tube defects. This gene is closely linked to a gene encoding
            zinc finger protein of the cerebellum 5, a related family member on
            chromosome 13. [provided by RefSeq, Jul 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF193855.1, AF104902.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376335.8/ ENSP00000365514.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..532
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.3"
     Protein         1..532
                     /product="zinc finger protein ZIC 2"
                     /note="Zic family member 2 (odd-paired homolog,
                     Drosophila); Zinc finger protein of the cerebellum 2"
                     /calculated_mol_wt=54875
     Region          100..255
                     /region_name="Necessary for interaction with MDFIC and
                     transcriptional activation or repression.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (O95409.2)"
     Site            191
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q62520; propagated from
                     UniProtKB/Swiss-Prot (O95409.2)"
     Site            199
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q62520; propagated from
                     UniProtKB/Swiss-Prot (O95409.2)"
     Region          250..295
                     /region_name="zf_ZIC"
                     /note="Zic proteins zinc finger domain; pfam18366"
                     /db_xref="CDD:436441"
     Region          307..327
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(312,314,316,318..319,322..323,326,342,344,348..349,
                     352..353,356,372,374,376,378..379,382..383,386)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          <329..413
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          335..357
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          365..387
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          395..415
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          406..452
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95409.2)"
     Region          475..532
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95409.2)"
     CDS             1..532
                     /gene="ZIC2"
                     /gene_synonym="HPE5"
                     /coded_by="NM_007129.5:282..1880"
                     /db_xref="CCDS:CCDS9495.1"
                     /db_xref="GeneID:7546"
                     /db_xref="HGNC:HGNC:12873"
                     /db_xref="MIM:603073"
ORIGIN      
        1 mlldagpqfp aigvgsfarh hhhsaaaaaa aaaemqdrel slaaaqngfv dsaaahmgaf
       61 klnpgahels pgqssaftsq gpgaypgsaa aaaaaaalgp haahvgsysg ppfnstrdfl
      121 frsrgfgdsa pgggqhglfg pgagglhhah sdaqghllfp glpeqhgphg sqnvlngqmr
      181 lglpgevfgr seqyrqvasp rtdpysaaql hnqygpmnmn mgmnmaaaaa hhhhhhhhhp
      241 gaffrymrqq cikqelickw idpeqlsnpk kscnktfstm helvthvsve hvggpeqsnh
      301 vcfweecpre gkpfkakykl vnhirvhtge kpfpcpfpgc gkvfarsenl kihkrthtge
      361 kpfqcefegc drrfanssdr kkhmhvhtsd kpylckmcdk sythpsslrk hmkvhesspq
      421 gsesspaass gyesstppgl vspsaepqss snlspaaaaa aaaaaaaaaa vsavhrgggs
      481 gsggagggsg ggsgsggggg gaggggggss gggsgtaggh sglssnfnew yv
//
LOCUS       NP_075571                672 aa            linear   PRI 12-MAR-2023
DEFINITION  calpain-10 isoform a [Homo sapiens].
ACCESSION   NP_075571
VERSION     NP_075571.2
DBSOURCE    REFSEQ: accession NM_023083.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 672)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 672)
  AUTHORS   Ding Y, Ma M, Li Q, Gao S, Li S, Liu J and Geng C.
  TITLE     Clinical significance of sHER2-ECD and calpain-10 expression in
            tumor tissues of patients with breast cancer
  JOURNAL   Oncol Rep 43 (6), 2093-2104 (2020)
   PUBMED   32236617
  REMARK    GeneRIF: Clinical significance of sHER2ECD and calpain10 expression
            in tumor tissues of patients with breast cancer.
REFERENCE   3  (residues 1 to 672)
  AUTHORS   Dong B and Liu R.
  TITLE     Characterization of endogenous and recombinant human calpain-10
  JOURNAL   Biochimie 90 (9), 1362-1371 (2008)
   PUBMED   18452715
  REMARK    GeneRIF: calpain-10 may require a special intracellular
            localization or interacting partner(s) to acquire proteolytic
            activity
REFERENCE   4  (residues 1 to 672)
  AUTHORS   Turner MD, Cassell PG and Hitman GA.
  TITLE     Calpain-10: from genome search to function
  JOURNAL   Diabetes Metab Res Rev 21 (6), 505-514 (2005)
   PUBMED   16028216
  REMARK    GeneRIF: Calpain 10 is a molecule of importance to insulin
            signaling and secretion that may have relevance to the future
            development of novel therapeutic targets for the treatment of
            T2D[review]
            Review article
REFERENCE   5  (residues 1 to 672)
  AUTHORS   Logie LJ, Brown AE, Yeaman SJ and Walker M.
  TITLE     Calpain inhibition and insulin action in cultured human muscle
            cells
  JOURNAL   Mol Genet Metab 85 (1), 54-60 (2005)
   PUBMED   15862281
  REMARK    GeneRIF: Studies confirm calpain 10 expression in cultured muscle
            cells and support calpains in insulin-stimulated glucose uptake in
            human skeletal muscle cells that may be relevant to the
            pathogenesis of the peripheral insulin resistance in type 2
            diabetes.
REFERENCE   6  (residues 1 to 672)
  AUTHORS   Marshall C, Hitman GA, Partridge CJ, Clark A, Ma H, Shearer TR and
            Turner MD.
  TITLE     Evidence that an isoform of calpain-10 is a regulator of exocytosis
            in pancreatic beta-cells
  JOURNAL   Mol Endocrinol 19 (1), 213-224 (2005)
   PUBMED   15471947
  REMARK    GeneRIF: an isoform of calpain-10 is a Ca2+-sensor that functions
            to trigger exocytosis in pancreatic beta-cells
REFERENCE   7  (residues 1 to 672)
  AUTHORS   Ma H, Fukiage C, Kim YH, Duncan MK, Reed NA, Shih M, Azuma M and
            Shearer TR.
  TITLE     Characterization and expression of calpain 10. A novel ubiquitous
            calpain with nuclear localization
  JOURNAL   J Biol Chem 276 (30), 28525-28531 (2001)
   PUBMED   11375982
REFERENCE   8  (residues 1 to 672)
  AUTHORS   Baier LJ, Permana PA, Yang X, Pratley RE, Hanson RL, Shen GQ, Mott
            D, Knowler WC, Cox NJ, Horikawa Y, Oda N, Bell GI and Bogardus C.
  TITLE     A calpain-10 gene polymorphism is associated with reduced muscle
            mRNA levels and insulin resistance
  JOURNAL   J Clin Invest 106 (7), R69-R73 (2000)
   PUBMED   11018080
REFERENCE   9  (residues 1 to 672)
  AUTHORS   Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, Hinokio
            Y, Lindner TH, Mashima H, Schwarz PE, del Bosque-Plata L, Horikawa
            Y, Oda Y, Yoshiuchi I, Colilla S, Polonsky KS, Wei S, Concannon P,
            Iwasaki N, Schulze J, Baier LJ, Bogardus C, Groop L, Boerwinkle E,
            Hanis CL and Bell GI.
  TITLE     Genetic variation in the gene encoding calpain-10 is associated
            with type 2 diabetes mellitus
  JOURNAL   Nat Genet 26 (2), 163-175 (2000)
   PUBMED   11017071
  REMARK    Erratum:[Nat Genet 2000 Dec;26(4):502]
REFERENCE   10 (residues 1 to 672)
  AUTHORS   Sorimachi H, Ishiura S and Suzuki K.
  TITLE     Structure and physiological function of calpains
  JOURNAL   Biochem J 328 (Pt 3) (Pt 3), 721-732 (1997)
   PUBMED   9396712
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124862.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NP_075571.1.
            
            Summary: Calpains represent a ubiquitous, well-conserved family of
            calcium-dependent cysteine proteases. The calpain proteins are
            heterodimers consisting of an invariant small subunit and variable
            large subunits. The large catalytic subunit has four domains:
            domain I, the N-terminal regulatory domain that is processed upon
            calpain activation; domain II, the protease domain; domain III, a
            linker domain of unknown function; and domain IV, the
            calmodulin-like calcium-binding domain. This gene encodes a large
            subunit. It is an atypical calpain in that it lacks the
            calmodulin-like calcium-binding domain and instead has a divergent
            C-terminal domain. It is similar in organization to calpains 5 and
            6. This gene is associated with type 2 or non-insulin-dependent
            diabetes mellitus (NIDDM), and is located within the NIDDM1 region.
            Multiple alternative transcript variants have been described for
            this gene. [provided by RefSeq, Sep 2010].
            
            Transcript Variant: This variant (1, also known as CAPN10a)
            represents the longer transcript and encodes the longer isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF089088.1, AK074807.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000391984.7/ ENSP00000375844.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..672
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     Protein         1..672
                     /product="calpain-10 isoform a"
                     /note="calpain-like protease CAPN10; calcium-activated
                     neutral proteinase 10"
                     /calculated_mol_wt=74822
     Region          2..319
                     /region_name="CysPc"
                     /note="Calpains, domains IIa, IIb; calcium-dependent
                     cytoplasmic cysteine proteinases, papain-like. Functions
                     in cytoskeletal remodeling processes, cell
                     differentiation, apoptosis and signal transduction;
                     cd00044"
                     /db_xref="CDD:238004"
     Site            order(73,238,263)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:238004"
     Region          322..494
                     /region_name="Domain III 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HC96.2)"
     Region          335..496
                     /region_name="Calpain_III"
                     /note="Calpain, subdomain III. Calpains are
                     calcium-activated cytoplasmic cysteine proteinases,
                     participate in cytoskeletal remodeling processes, cell
                     differentiation, apoptosis and signal transduction.
                     Catalytic domain and the two calmodulin-like domains
                     are...; cd00214"
                     /db_xref="CDD:238132"
     Region          512..653
                     /region_name="Calpain_III"
                     /note="Calpain, subdomain III. Calpains are
                     calcium-activated cytoplasmic cysteine proteinases,
                     participate in cytoskeletal remodeling processes, cell
                     differentiation, apoptosis and signal transduction.
                     Catalytic domain and the two calmodulin-like domains
                     are...; cd00214"
                     /db_xref="CDD:238132"
     Region          513..654
                     /region_name="Domain III 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HC96.2)"
     Site            order(549..551,555)
                     /site_type="other"
                     /note="acidic loop"
                     /db_xref="CDD:238132"
     CDS             1..672
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /coded_by="NM_023083.4:179..2197"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS42838.1"
                     /db_xref="GeneID:11132"
                     /db_xref="HGNC:HGNC:1477"
                     /db_xref="MIM:605286"
ORIGIN      
        1 mragrgatpa relfrdaafp aadsslfcdl stplaqfred itwrrpqeic atprlfpddp
       61 regqvkqgll gdcwflcaca alqksrhlld qvippgqpsw adqeyrgsft criwqfgrwv
      121 evttddrlpc lagrlcfsrc qredvfwlpl lekvyakvhg syehlwagqv adalvdltgg
      181 laerwnlkgv agsggqqdrp grwehrtcrq llhlkdqcli sccvlsprag arelgefhaf
      241 ivsdlrelqg qagqcilllr iqnpwgrrcw qglwreggeg wsqvdaavas ellsqlqege
      301 fwveeeeflr efdeltvgyp vteaghlqsl yterllchtr alpgawvkgq saggcrnnsg
      361 fpsnpkfwlr vsepsevyia vlqrsrlhaa dwagraralv gdshtswspa sipgkhyqav
      421 glhlwkvekr rvnlprvlsm ppvagtacha ydrevhlrce lspgyylavp stflkdapge
      481 fllrvfstgr vslsairava knttpgaalp agewgtvqlr gswrvgqtag gsrnfasypt
      541 npcfpfsvpe gpgprcvrit lhqhcrpsdt efhpigfhif qvpeggrsqd applllqepl
      601 lscvphryaq evsrlcllpa gtykvvpsty lpdtegaftv tiatridrps ihsqemlgqf
      661 lqevsimavm kt
//
LOCUS       NP_006550                443 aa            linear   PRI 12-MAR-2023
DEFINITION  KH domain-containing, RNA-binding, signal transduction-associated
            protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_006550
VERSION     NP_006550.1
DBSOURCE    REFSEQ: accession NM_006559.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 443)
  AUTHORS   Malki I, Liepina I, Kogelnik N, Watmuff H, Robinson S, Lightfoot A,
            Gonchar O, Bottrill A, Fry AM and Dominguez C.
  TITLE     Cdk1-mediated threonine phosphorylation of Sam68 modulates its RNA
            binding, alternative splicing activity and cellular functions
  JOURNAL   Nucleic Acids Res 50 (22), 13045-13062 (2022)
   PUBMED   36537190
  REMARK    GeneRIF: Cdk1-mediated threonine phosphorylation of Sam68 modulates
            its RNA binding, alternative splicing activity and cellular
            functions.
REFERENCE   2  (residues 1 to 443)
  AUTHORS   Pieraccioli M, Caggiano C, Mignini L, Zhong C, Babini G, Lattanzio
            R, Di Stasi S, Tian B, Sette C and Bielli P.
  TITLE     The transcriptional terminator XRN2 and the RNA-binding protein
            Sam68 link alternative polyadenylation to cell cycle progression in
            prostate cancer
  JOURNAL   Nat Struct Mol Biol 29 (11), 1101-1112 (2022)
   PUBMED   36344846
  REMARK    GeneRIF: The transcriptional terminator XRN2 and the RNA-binding
            protein Sam68 link alternative polyadenylation to cell cycle
            progression in prostate cancer.
REFERENCE   3  (residues 1 to 443)
  AUTHORS   Komiyama T, Kuroshima T, Sugasawa T, Fujita SI, Ikami Y, Hirai H,
            Tsushima F, Michi Y, Kayamori K, Higashino F and Harada H.
  TITLE     High expression of Sam68 contributes to metastasis by regulating
            vimentin expression and a motile phenotype in oral squamous cell
            carcinoma
  JOURNAL   Oncol Rep 48 (4) (2022)
   PUBMED   36082807
  REMARK    GeneRIF: High expression of Sam68 contributes to metastasis by
            regulating vimentin expression and a motile phenotype in oral
            squamous cell carcinoma.
REFERENCE   4  (residues 1 to 443)
  AUTHORS   Vilarino-Garcia T, Guadix P, Dorado-Silva M, Sanchez-Martin P,
            Perez-Perez A and Sanchez-Margalet V.
  TITLE     Decreased Expression of Sam68 Is Associated with Insulin Resistance
            in Granulosa Cells from PCOS Patients
  JOURNAL   Cells 11 (18), 2821 (2022)
   PUBMED   36139396
  REMARK    GeneRIF: Decreased Expression of Sam68 Is Associated with Insulin
            Resistance in Granulosa Cells from PCOS Patients.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 443)
  AUTHORS   Barlat I, Maurier F, Duchesne M, Guitard E, Tocque B and
            Schweighoffer F.
  TITLE     A role for Sam68 in cell cycle progression antagonized by a spliced
            variant within the KH domain
  JOURNAL   J Biol Chem 272 (6), 3129-3132 (1997)
   PUBMED   9013542
REFERENCE   6  (residues 1 to 443)
  AUTHORS   Taylor SJ, Anafi M, Pawson T and Shalloway D.
  TITLE     Functional interaction between c-Src and its mitotic target, Sam 68
  JOURNAL   J Biol Chem 270 (17), 10120-10124 (1995)
   PUBMED   7537265
REFERENCE   7  (residues 1 to 443)
  AUTHORS   Richard S, Yu D, Blumer KJ, Hausladen D, Olszowy MW, Connelly PA
            and Shaw AS.
  TITLE     Association of p62, a multifunctional SH2- and SH3-domain-binding
            protein, with src family tyrosine kinases, Grb2, and phospholipase
            C gamma-1
  JOURNAL   Mol Cell Biol 15 (1), 186-197 (1995)
   PUBMED   7799925
REFERENCE   8  (residues 1 to 443)
  AUTHORS   Weng Z, Thomas SM, Rickles RJ, Taylor JA, Brauer AW, Seidel-Dugan
            C, Michael WM, Dreyfuss G and Brugge JS.
  TITLE     Identification of Src, Fyn, and Lyn SH3-binding proteins:
            implications for a function of SH3 domains
  JOURNAL   Mol Cell Biol 14 (7), 4509-4521 (1994)
   PUBMED   7516469
REFERENCE   9  (residues 1 to 443)
  AUTHORS   Wong G, Muller O, Clark R, Conroy L, Moran MF, Polakis P and
            McCormick F.
  TITLE     Molecular cloning and nucleic acid binding properties of the
            GAP-associated tyrosine phosphoprotein p62
  JOURNAL   Cell 69 (3), 551-558 (1992)
   PUBMED   1374686
REFERENCE   10 (residues 1 to 443)
  AUTHORS   Koch CA, Moran MF, Anderson D, Liu XQ, Mbamalu G and Pawson T.
  TITLE     Multiple SH2-mediated interactions in v-src-transformed cells
  JOURNAL   Mol Cell Biol 12 (3), 1366-1374 (1992)
   PUBMED   1545818
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN345570.1, M88108.1 and
            CA442272.1.
            
            Summary: This gene encodes a member of the K homology
            domain-containing, RNA-binding, signal transduction-associated
            protein family. The encoded protein appears to have many functions
            and may be involved in a variety of cellular processes, including
            alternative splicing, cell cycle regulation, RNA 3'-end formation,
            tumorigenesis, and regulation of human immunodeficiency virus gene
            expression. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Dec 2012].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.23040.1, M88108.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327300.12/ ENSP00000313829.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..443
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.2"
     Protein         1..443
                     /product="KH domain-containing, RNA-binding, signal
                     transduction-associated protein 1 isoform 1"
                     /note="GAP-associated tyrosine phosphoprotein p62 (Sam68);
                     src-associated in mitosis 68 kDa protein; p21 Ras
                     GTPase-activating protein-associated p62; KH domain
                     containing, RNA binding, signal transduction associated 1"
                     /calculated_mol_wt=48096
     Region          1..96
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07666.1)"
     Site            18
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            20
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            29
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            33
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            45
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:12529443; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            52
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, partial, by PRMT1.
                     /evidence=ECO:0000269|PubMed:12529443; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            58
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            84
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by MAPK1.
                     /evidence=ECO:0000250|UniProtKB:Q60749; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Region          100..260
                     /region_name="Involved in homodimerization.
                     /evidence=ECO:0000305|PubMed:26758068"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07666.1)"
     Region          102..153
                     /region_name="Qua1"
                     /note="Qua1 domain; pfam16274"
                     /db_xref="CDD:406639"
     Site            113
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q60749; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            150
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Region          152..257
                     /region_name="KH-I_KHDRBS1"
                     /note="type I K homology (KH) RNA-binding domain found in
                     KH domain-containing, RNA-binding, signal
                     transduction-associated protein 1 (KHDRBS1) and similar
                     proteins; cd22468"
                     /db_xref="CDD:411896"
     Site            order(171,173..175,177..181,184..185,195..197,202..204)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:411896"
     Site            175
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            178..181
                     /site_type="other"
                     /note="GXXG motif"
                     /db_xref="CDD:411896"
     Site            183
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Region          280..316
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07666.1)"
     Site            282
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            284
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            291
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q60749; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            304
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:12529443; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            310
                     /site_type="methylation"
                     /note="Omega-N-methylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:12529443; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            315
                     /site_type="methylation"
                     /note="Omega-N-methylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:12529443; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            320
                     /site_type="methylation"
                     /note="Dimethylated arginine, in A2780 ovarian carcinoma
                     cell line. /evidence=ECO:0000269|Ref.7;
                     Omega-N-methylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:12529443; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            325
                     /site_type="methylation"
                     /note="Omega-N-methylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:12529443; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Region          327..346
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07666.1)"
     Site            331
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q60749; Dimethylated
                     arginine, in A2780 ovarian carcinoma cell line.
                     /evidence=ECO:0000269|Ref.7; Omega-N-methylarginine, by
                     PRMT1, alternate. /evidence=ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            340
                     /site_type="methylation"
                     /note="Dimethylated arginine, in A2780 ovarian carcinoma
                     cell line. /evidence=ECO:0000269|Ref.7;
                     Omega-N-methylarginine, by PRMT1.
                     /evidence=ECO:0007744|PubMed:15782174,
                     ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Region          351..443
                     /region_name="Interaction with HNRNPA1.
                     /evidence=ECO:0000269|PubMed:17371836"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07666.1)"
     Region          366..415
                     /region_name="Sam68-YY"
                     /note="Tyrosine-rich domain of Sam68; pfam16568"
                     /db_xref="CDD:435435"
     Site            387
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000305|PubMed:22000517; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            390
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Region          400..420
                     /region_name="Interaction with ZBTB7A.
                     /evidence=ECO:0000269|PubMed:24514149"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07666.1)"
     Region          411..443
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07666.1)"
     Site            435
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by PTK6.
                     /evidence=ECO:0000269|PubMed:16179349; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            440
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by PTK6.
                     /evidence=ECO:0000269|PubMed:16179349; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     Site            443
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by PTK6.
                     /evidence=ECO:0000269|PubMed:16179349; propagated from
                     UniProtKB/Swiss-Prot (Q07666.1)"
     CDS             1..443
                     /gene="KHDRBS1"
                     /gene_synonym="p62; p68; Sam68"
                     /coded_by="NM_006559.3:129..1460"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS350.1"
                     /db_xref="GeneID:10657"
                     /db_xref="HGNC:HGNC:18116"
                     /db_xref="MIM:602489"
ORIGIN      
        1 mqrrddpaar msrssgrsgs mdpsgahpsv rqtpsrqppl phrsrggggg srggaraspa
       61 tqpppllpps atgpdatvgg paptpllpps atasvkmepe nkylpelmae kdsldpsfth
      121 amqlltaeie kiqkgdskkd deenyldlfs hknmklkerv lipvkqypkf nfvgkilgpq
      181 gntikrlqee tgakisvlgk gsmrdkakee elrkggdpky ahlnmdlhvf ievfgppcea
      241 yalmahamee vkkflvpdmm ddicqeqfle lsylngvpep srgrgvpvrg rgaapppppv
      301 prgrgvgppr galvrgtpvr gaitrgatvt rgvpppptvr gapaprarta giqriplppp
      361 papetyeeyg yddtyaeqsy egyegyysqs qgdseyydyg hgevqdsyea ygqddwngtr
      421 pslkapparp vkgayrehpy gry
//
LOCUS       NP_055529               1462 aa            linear   PRI 12-MAR-2023
DEFINITION  intraflagellar transport protein 140 homolog [Homo sapiens].
ACCESSION   NP_055529 XP_005255781
VERSION     NP_055529.2
DBSOURCE    REFSEQ: accession NM_014714.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1462)
  AUTHORS   Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD,
            Gregory AV, Neatu R, Kline TL, Audrezet MP, Outeda P, Nau CB,
            Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters
            DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC,
            Torres VE, Sayer JA and Harris PC.
  CONSRTM   Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK,
            ADPKD Modifier, and TAME PKD studies
  TITLE     Monoallelic IFT140 pathogenic variants are an important cause of
            the autosomal dominant polycystic kidney-spectrum phenotype
  JOURNAL   Am J Hum Genet 109 (1), 136-156 (2022)
   PUBMED   34890546
  REMARK    GeneRIF: Monoallelic IFT140 pathogenic variants are an important
            cause of the autosomal dominant polycystic kidney-spectrum
            phenotype.
REFERENCE   2  (residues 1 to 1462)
  AUTHORS   Wang X, Sha YW, Wang WT, Cui YQ, Chen J, Yan W, Hou XT, Mei LB, Yu
            CC and Wang J.
  TITLE     Novel IFT140 variants cause spermatogenic dysfunction in humans
  JOURNAL   Mol Genet Genomic Med 7 (9), e920 (2019)
   PUBMED   31397098
  REMARK    GeneRIF: This study for the first time reported IFT140 variants
            that cause infertility in humans.
REFERENCE   3  (residues 1 to 1462)
  AUTHORS   Tao D, Xue H, Zhang C, Li G and Sun Y.
  TITLE     The Role of IFT140 in Osteogenesis of Adult Mice Long Bone
  JOURNAL   J Histochem Cytochem 67 (8), 601-611 (2019)
   PUBMED   31034313
  REMARK    GeneRIF: Role of IFT140 in Osteogenesis of Adult Mice Long Bone
REFERENCE   4  (residues 1 to 1462)
  AUTHORS   Mukhopadhyay S, Wen X, Chih B, Nelson CD, Lane WS, Scales SJ and
            Jackson PK.
  TITLE     TULP3 bridges the IFT-A complex and membrane phosphoinositides to
            promote trafficking of G protein-coupled receptors into primary
            cilia
  JOURNAL   Genes Dev 24 (19), 2180-2193 (2010)
   PUBMED   20889716
REFERENCE   5  (residues 1 to 1462)
  AUTHORS   Nakayama M, Kikuno R and Ohara O.
  TITLE     Protein-protein interactions between large proteins: two-hybrid
            screening using a functionally classified library composed of long
            cDNAs
  JOURNAL   Genome Res 12 (11), 1773-1784 (2002)
   PUBMED   12421765
REFERENCE   6  (residues 1 to 1462)
  AUTHORS   Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C,
            Kearney L, Buckle VJ, Doggett NA, Flint J and Higgs DR.
  TITLE     Sequence, structure and pathology of the fully annotated terminal 2
            Mb of the short arm of human chromosome 16
  JOURNAL   Hum Mol Genet 10 (4), 339-352 (2001)
   PUBMED   11157797
REFERENCE   7  (residues 1 to 1462)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   8  (residues 1 to 1462)
  AUTHORS   Tan,W., Lin,A. and Keppler-Noreuil,K.
  TITLE     Cranioectodermal Dysplasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24027799
REFERENCE   9  (residues 1 to 1462)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   10 (residues 1 to 1462)
  AUTHORS   Harris,P.C. and Torres,V.E.
  TITLE     Polycystic Kidney Disease, Autosomal Dominant
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301424
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC401677.1, BC035577.1 and
            AW245075.1.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Aug 31, 2013 this sequence version replaced
            XP_005255781.1, NP_055529.1.
            
            Summary: This gene encodes one of the subunits of the
            intraflagellar transport (IFT) complex A. Intraflagellar transport
            is involved in the genesis, resorption and signaling of primary
            cilia. The primary cilium is a microtubule-based sensory organelle
            at the surface of most quiescent mammalian cells, that receives
            signals from its environment, such as the flow of fluid, light or
            odors, and transduces those signals to the nucleus. Loss of the
            corresponding protein in mouse results in renal cystic disease.
            [provided by RefSeq, Jun 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1630287.1,
                                           SRR14038196.2506225.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000426508.7/ ENSP00000406012.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1462
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..1462
                     /product="intraflagellar transport protein 140 homolog"
                     /note="WD and tetratricopeptide repeats protein 2;
                     intraflagellar transport 140 homolog"
                     /calculated_mol_wt=165063
     Region          4..48
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          <19..121
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          19..59
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          51..90
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          65..101
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          93..132
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          102..434
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          106..144
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          139..188
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          152..197
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          204..258
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          221..259
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          266..305
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          268..320
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          322..361
                     /region_name="WD 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          327..351
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Site            360
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          772..807
                     /region_name="TPR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          803..837
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          842..872
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          869..904
                     /region_name="TPR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          906..934
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          <951..1233
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     Region          955..988
                     /region_name="TPR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          1010..1043
                     /region_name="TPR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          1078..1111
                     /region_name="TPR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          1123..1156
                     /region_name="TPR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          1189..1222
                     /region_name="TPR 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          1376..1409
                     /region_name="TPR 9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Region          1434..1462
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RY7.1)"
     Site            1443
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q96RY7.1)"
     CDS             1..1462
                     /gene="IFT140"
                     /gene_synonym="c305C8.4; c380F5.1; gs114; MZSDS; RP80;
                     SRTD9; WDTC2"
                     /coded_by="NM_014714.4:327..4715"
                     /db_xref="CCDS:CCDS10439.1"
                     /db_xref="GeneID:9742"
                     /db_xref="HGNC:HGNC:29077"
                     /db_xref="MIM:614620"
ORIGIN      
        1 malyydhqie apdaagspsf iswhpvhpfl avayisttst gsvdiyleqg ecvpdthver
       61 pfrvaslcwh ptrlvlavgw etgevtvfnk qdkeqhtmpl thtaditvlr wspsgnclls
      121 gdrlgvlllw rldqrgrvqg tpllkheygk hlthcifrlp ppgedlvqla kaavsgdeka
      181 ldmfnwkkss sgsllkmgsh egllffvslm dgtvhyvdek gkttqvvsad stiqmlfyme
      241 krealvvvte nlrlslytvp pegkaeevmk vklsgktgrr adialiegsl lvmavgeaal
      301 rfwdiergen yilspdekfg fekgenmncv cyckvkglla agtdrgrvam wrkvpdflgs
      361 pgaegkdrwa lqtptelqgn itqiqwgsrk nllavnsvis vailserams shfhqqvaam
      421 qvspsllnvc flstgvahsl rtdmhisgvf atkdavavwn grqvaifels gaairsagtf
      481 lcetpvlamh eenvytvesn rvqvrtwqgt vkqlllfset egnpcfldic gnflvvgtdl
      541 ahfksfdlsr reakahcscr slaelvpgvg giaslrcsss gstisilpsk adnspdskic
      601 fydvemdtvt vfdfktgqid rretlsfneq etnkshlfvd eglknyvpvn hfwdqseprl
      661 fvceavqetp rsqpqsangq pqdgragpaa dvlilsffis eehgfllhes fprpatshsl
      721 lgmevpyyyf trkpeeadre devepgchhi pqmvsrrplr dfvgledcdk atrdamlhfs
      781 ffvtigdmde afksikliks eavwenmarm cvktqrldva kvclgnmgha rgaralreae
      841 qepelearva vlatqlgmle daeqlyrkck rhdllnkfyq aagrwqealq vaehhdrvhl
      901 rstyhryagh leasadcsra lsyyeksdth rfevprmlse dlpslelyvn kmkdktlwrw
      961 waqylesqge mdaalhyyel ardhfslvri hcfqgnvqka aqianetgnl aasyhlarqy
     1021 esqeevgqav hfytraqafk nairlckeng lddqlmnlal lsspedmiea aryyeekgvq
     1081 mdravmlyhk aghfskalel afatqqfval qliaedldet sdpallarcs dffiehsqye
     1141 ravelllaar kyqealqlcl gqnmsiteem aekmtvakds sdlpeesrre lleqiadccm
     1201 rqgsyhlatk kytqagnklk amrallksgd tekitffasv srqkeiyima anylqsldwr
     1261 kepeimknii gfytkgrald llagfydaca qveideyqny dkahgaltea ykclakakak
     1321 spldqetrla qlqsrmalvk rfiqarrtyt edpkesikqc ellleepdld stirigdvyg
     1381 flvehyvrke eyqtayrfle emrrrlplan msyyvspqav davhrglglp lprtvpeqvr
     1441 hnsmedarel deevveeadd dp
//
LOCUS       NP_001270083             252 aa            linear   PRI 20-MAR-2023
DEFINITION  transport and Golgi organization protein 2 homolog isoform c [Homo
            sapiens].
ACCESSION   NP_001270083
VERSION     NP_001270083.1
DBSOURCE    REFSEQ: accession NM_001283154.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 252)
  AUTHORS   Heiman P, Mohsen AW, Karunanidhi A, St Croix C, Watkins S, Koppes
            E, Haas R, Vockley J and Ghaloul-Gonzalez L.
  TITLE     Mitochondrial dysfunction associated with TANGO2 deficiency
  JOURNAL   Sci Rep 12 (1), 3045 (2022)
   PUBMED   35197517
  REMARK    GeneRIF: Mitochondrial dysfunction associated with TANGO2
            deficiency.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 252)
  AUTHORS   Schymick J, Leahy P, Cowan T, Ruzhnikov MRZ, Gates R, Fernandez L,
            Pramanik G, Yarlagadda V, Wheeler M, Bernstein JA, Enns GM and Lee
            C.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     Variable clinical severity in TANGO2 deficiency: Case series and
            literature review
  JOURNAL   Am J Med Genet A 188 (2), 473-487 (2022)
   PUBMED   34668327
  REMARK    GeneRIF: Variable clinical severity in TANGO2 deficiency: Case
            series and literature review.
            Review article
REFERENCE   3  (residues 1 to 252)
  AUTHORS   Berat CM, Montealegre S, Wiedemann A, Nuzum MLC, Blondel A, Debruge
            H, Cano A, Chabrol B, Hoebeke C, Polak M, Stoupa A, Feillet F,
            Torre S, Boddaert N, Bruel H, Barth M, Damaj L, Abi-Warde MT,
            Afenjar A, Benoist JF, Madrange M, Caccavelli L, Renard P, Hubas A,
            Nusbaum P, Pontoizeau C, Gobin S, van Endert P, Ottolenghi C,
            Maltret A and de Lonlay P.
  TITLE     Clinical and biological characterization of 20 patients with TANGO2
            deficiency indicates novel triggers of metabolic crises and no
            primary energetic defect
  JOURNAL   J Inherit Metab Dis 44 (2), 415-425 (2021)
   PUBMED   32929747
  REMARK    GeneRIF: Clinical and biological characterization of 20 patients
            with TANGO2 deficiency indicates novel triggers of metabolic crises
            and no primary energetic defect.
REFERENCE   4  (residues 1 to 252)
  AUTHORS   Hoebeke C, Cano A, De Lonlay P and Chabrol B.
  TITLE     Clinical phenotype associated with TANGO2 gene mutation
  JOURNAL   Arch Pediatr 28 (1), 80-86 (2021)
   PUBMED   33342685
  REMARK    GeneRIF: Clinical phenotype associated with TANGO2 gene mutation.
REFERENCE   5  (residues 1 to 252)
  AUTHORS   Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Kupper C,
            Muhlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R,
            Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R,
            Meitinger T, Klopstock T, Prokisch H and Haack TB.
  TITLE     Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset
            Recurrent Metabolic Crises with Encephalocardiomyopathy
  JOURNAL   Am J Hum Genet 98 (2), 358-362 (2016)
   PUBMED   26805782
REFERENCE   6  (residues 1 to 252)
  AUTHORS   Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu
            W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T,
            Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK,
            Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G,
            Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H,
            Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J,
            Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B,
            Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski
            JR and Yang Y.
  TITLE     Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises,
            and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
  JOURNAL   Am J Hum Genet 98 (2), 347-357 (2016)
   PUBMED   26805781
  REMARK    GeneRIF: Exons 3-9 heterozygous deletion in TANGO2 are recurrent
            pathogenic alleles present in the Latino/Hispanic and European
            populations, respectively, causing considerable morbidity in the
            homozygotes in these populations.
REFERENCE   7  (residues 1 to 252)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   8  (residues 1 to 252)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Behal A, Touchman JW, Bouffard G,
            Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and
            splice variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 252)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   10 (residues 1 to 252)
  AUTHORS   Miyake,C.Y., Burrage,L., Glinton,K., Houck,K., Hoyos-Martinez,A.,
            Graham,B., Yang,Y., Rawls-Castillo,B., Scaglia,F., Soler-Alfonso,C.
            and Lalani,S.R.
  TITLE     TANGO2 Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29369572
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI544307.1, BU173566.1,
            BC041339.1, AA969089.1 and AC006547.9.
            
            Summary: This gene belongs to the transport and Golgi organization
            family, whose members are predicted to play roles in secretory
            protein loading in the endoplasmic reticulum. Depletion of this
            gene in Drosophila S2 cells causes fusion of the Golgi with the ER.
            In mouse tissue culture cells, this protein co-localizes with a
            mitochondrially targeted mCherry protein and displays very low
            levels of co-localization with Golgi and peroxisomes. Allelic
            variants of this gene are associated with rhabdomyolysis, metabolic
            crises with encephalopathy, and cardiac arrhythmia. [provided by
            RefSeq, Apr 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.2647600.1,
                                           SRR14038193.3269198.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..252
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     Protein         1..252
                     /product="transport and Golgi organization protein 2
                     homolog isoform c"
                     /note="transport and Golgi organization protein 2 homolog"
                     /calculated_mol_wt=28100
     Region          1..>201
                     /region_name="TANGO2"
                     /note="Transport and Golgi organisation 2; pfam05742"
                     /db_xref="CDD:428613"
     CDS             1..252
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /coded_by="NM_001283154.3:177..935"
                     /note="isoform c is encoded by transcript variant 6"
                     /db_xref="GeneID:128989"
                     /db_xref="HGNC:HGNC:25439"
                     /db_xref="MIM:616830"
ORIGIN      
        1 mciiffkfdp rpvsknayrl ilaanrdefy srpskladfw gnnneilsgl dmeegkeggt
       61 wlgistrgkl aaltnylqpq ldwqargrge lvthflttdv dslsylkkvs meghlyngfn
      121 liaadlstak gdvicyygnr gepdpivltp gtyglsnall etpwrklcfg kqlfleaver
      181 sqalpkdvli aslldvlnne eaaarpghrg pgwgvraaha eqvrgcvral pwlrhqnqhy
      241 hpgrcgrprd lh
//
LOCUS       XP_016855506             848 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/arginine repetitive matrix protein 1 isoform X7 [Homo
            sapiens].
ACCESSION   XP_016855506
VERSION     XP_016855506.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017000017.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..848
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..848
                     /product="serine/arginine repetitive matrix protein 1
                     isoform X7"
                     /calculated_mol_wt=95471
     Region          7..76
                     /region_name="PWI"
                     /note="PWI domain; pfam01480"
                     /db_xref="CDD:426282"
     Region          <82..170
                     /region_name="PRK04195"
                     /note="replication factor C large subunit; Provisional"
                     /db_xref="CDD:235250"
     Region          <345..674
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <550..>684
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     CDS             1..848
                     /gene="SRRM1"
                     /gene_synonym="160-KD; POP101; SRM160"
                     /coded_by="XM_017000017.2:271..2817"
                     /db_xref="GeneID:10250"
                     /db_xref="HGNC:HGNC:16638"
                     /db_xref="MIM:605975"
ORIGIN      
        1 mskvnlevik pwitkrvtei lgfeddvvie fifnqlevkn pdskmmqinl tgflngknar
       61 efmgelwpll lsaqeniagi psaflelkke eikqrqieqe klasmkkqde dkdkrdkeek
      121 essrekrers rsprrtksrs pspapekkek tpelpepsvk vkepsvqeat stsdilkvpk
      181 pepipepkep speknskkek ekektrprsr srsksrsrtr srspshtrpr rrhrsrsrsy
      241 sprrrpsprr rpsprrrtpp rrmpppprhr rsrspvrrrr rssaslsgss ssssssrsrs
      301 ppkkppkrts spprktrrls psaspprrrh rpsppatppp ktrhsptpqq snrtrksrvs
      361 vspgrtsgkv tkhkgtekre spspapkprk velsesedkg gkmaaadsvq qrrqyrrqnq
      421 qsssdsgsss ssederpkrs hvkngevgrr rrhspsrsas psprkrqket sprmqmgkrw
      481 qspvtksgrr rrspsppptr rrrspspapp prrrrtptpp prrrtpsppp rrrspsprry
      541 sppiqrrysp spppkrrtas pppppkrras pspppkrrvs hspppkqrss pvtkrrspsl
      601 sskhrkgssp srstrearsp qpnkrhspsp rprapqtsss pppvrrgass spqrrqspsp
      661 strpirrvsr tpepkkikka aspspqsvrr vsssrsvsgs pepaakkppa ppspvqsqsp
      721 stnwspavpv kkaksptpsp spprnsdqeg ggkkkkkkkd kkhkkdkkhk khkkhkkeka
      781 vaaaaaaavt paaiaaattt laqeepvaap epkketesea ednlddlekh lrekalrsmr
      841 kaqvspqs
//
LOCUS       XP_006711569             858 aa            linear   PRI 20-MAR-2023
DEFINITION  toll-like receptor 5 isoform X1 [Homo sapiens].
ACCESSION   XP_006711569
VERSION     XP_006711569.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006711506.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..858
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..858
                     /product="toll-like receptor 5 isoform X1"
                     /calculated_mol_wt=97669
     Region          48..83
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          90..>581
                     /region_name="PLN00113"
                     /note="leucine-rich repeat receptor-like protein kinase;
                     Provisional"
                     /db_xref="CDD:215061"
     Region          97..120
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          121..146
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          147..171
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          172..205
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          288..348
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          290..313
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          314..337
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          338..361
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          362..385
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          386..414
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          415..449
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          450..474
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          473..538
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          475..503
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          504..527
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          528..549
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          550..571
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          554..>634
                     /region_name="PCC"
                     /note="polycystin cation channel protein; TIGR00864"
                     /db_xref="CDD:188093"
     Region          693..837
                     /region_name="TIR"
                     /note="TIR domain; pfam01582"
                     /db_xref="CDD:396246"
     CDS             1..858
                     /gene="TLR5"
                     /gene_synonym="MELIOS; SLE1; SLEB1; TIL3"
                     /coded_by="XM_006711506.4:223..2799"
                     /db_xref="GeneID:7100"
                     /db_xref="HGNC:HGNC:11851"
                     /db_xref="MIM:603031"
ORIGIN      
        1 mgdhldlllg vvlmagpvfg ipscsfdgri afyrfcnltq vpqvlntter lllsfnyirt
       61 vtassfpfle qlqllelgsq ytpltidkea frnlpnlril dlgsskiyfl hpdafqglfh
      121 lfelrlyfcg lsdavlkdgy frnlkaltrl dlsknqirsl ylhpsfgkln slksidfssn
      181 qiflvcehel eplqgktlsf fslaanslys rvsvdwgkcm npfrnmvlei ldvsgngwtv
      241 ditgnfsnai sksqafslil ahhimgagfg fhnikdpdqn tfaglarssv rhldlshgfv
      301 fslnsrvfet lkdlkvlnla ynkinkiade afygldnlqv lnlsynllge lyssnfyglp
      361 kvayidlqkn hiaiiqdqtf kfleklqtld lrdnalttih fipsipdifl sgnklvtlpk
      421 inltanlihl senrlenldi lyfllrvphl qililnqnrf sscsgdqtps enpsleqlfl
      481 genmlqlawe telcwdvfeg lshlqvlyln hnylnslppg vfshltalrg lslnsnrltv
      541 lshndlpanl eildisrnql lapnpdvfvs lsvldithnk ficecelstf inwlnhtnvt
      601 iagppadiyc vypdsfsgvs lfslstegcd eeevlkslkf slfivctvtl tlflmtiltv
      661 tkfrgfcfic yktaqrlvfk dhpqgtepdm ykydaylcfs skdftwvqna llkhldtqys
      721 dqnrfnlcfe erdfvpgenr ianiqdaiwn srkivclvsr hflrdgwcle afsyaqgrcl
      781 sdlnsalimv vvgslsqyql mkhqsirgfv qkqqylrwpe dlqdvgwflh klsqqilkke
      841 kekkkdnnip lqtvatis
//
LOCUS       XP_016857877             291 aa            linear   PRI 20-MAR-2023
DEFINITION  DENN domain-containing protein 2D isoform X6 [Homo sapiens].
ACCESSION   XP_016857877
VERSION     XP_016857877.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002388.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..291
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..291
                     /product="DENN domain-containing protein 2D isoform X6"
                     /calculated_mol_wt=32783
     Region          4..153
                     /region_name="DENN"
                     /note="DENN (AEX-3) domain; pfam02141"
                     /db_xref="CDD:426618"
     Region          192..257
                     /region_name="dDENN"
                     /note="Domain always found downstream of DENN domain,
                     found in a variety of signalling proteins; smart00801"
                     /db_xref="CDD:129037"
     CDS             1..291
                     /gene="DENND2D"
                     /coded_by="XM_017002388.2:531..1406"
                     /db_xref="GeneID:79961"
                     /db_xref="HGNC:HGNC:26192"
                     /db_xref="MIM:615111"
ORIGIN      
        1 maviypfmqg lreaafpapg ktvtlksfip dsgtefislt rpldshlehv dfssllhcls
       61 feqilqifas avlerkiifl aeglstlsqc ihaaaallyp fswahtyipv vpesllatvc
      121 cptpfmvgvq mrfqqevmds pmeevllvnl cegtflmsvg dekdilppkl qddildslgq
      181 ginelktaeq inehvsgpfv qffvkivghy asyikreang qghfqersfc kaltsktnrr
      241 fvkkfvktql fslfiqeaek sknppagyfq qkileyeeqk kqkkprektv k
//
LOCUS       XP_005271372             545 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 697 isoform X1 [Homo sapiens].
ACCESSION   XP_005271372
VERSION     XP_005271372.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005271315.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..545
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..545
                     /product="zinc finger protein 697 isoform X1"
                     /calculated_mol_wt=60331
     Region          191..211
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <259..429
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          263..283
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(268,270,272,274..275,278..279,282,296,298,302..303,
                     306..307,310,324,326,328,330..331,334..335)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          291..311
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          319..337
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          355..375
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(360,362,364,366..367,370..371,374,388,390,394..395,
                     398..399,402,416,418,420,422..423,426..427,430)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          <364..545
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          383..403
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          411..431
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          439..459
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(444,446,448,450..451,454..455,458,472,474,478..479,
                     482..483,486,500,502,504,506..507,510..511,514)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          467..487
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          495..515
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          523..543
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..545
                     /gene="ZNF697"
                     /coded_by="XM_005271315.4:234..1871"
                     /db_xref="GeneID:90874"
                     /db_xref="HGNC:HGNC:32034"
ORIGIN      
        1 mkqednqgvc ahqdsedkgm gsdfedsedr egdpeeremg snphdtnkre ghpepemgsn
       61 pqdsrhreav pdictegqls eeegvsvrge eddqsgvadm amfpglsesd sisrslredd
      121 desagenrle eeeeqpappv lpwrrhlslg srhrgdkpah rrfhrlhhpm avdlgeldsl
      181 vasimdapti cpdcgesfsp gaaflqhqri hrlaeaaaaa slepfglage cdamvgmmgv
      241 gvaggfgagp plarpprekp frcgecgkgf srntyltnhl rlhtgerpnl cadcgksfsw
      301 radllkhrrl htgekpypcp ecgeafslss hllshrraha aasgagaaal rpfacgecgk
      361 gfvrrshlan hqrihtgekp hgcgecgkrf swrsdlvkhq rvhtgekpym csecgetfsv
      421 sshlfthkrt hsgerpyvcr ecgkgfgrns hlvnhlrvht gekpfrcgqc ekrfsdfstl
      481 tqhqrthtge kpytciecgk sfiqsshlir hrrihtgnkp hkcagcgkgf rykthlaqhq
      541 klhlc
//
LOCUS       XP_047281017             792 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein R3HCC1L isoform X1 [Homo
            sapiens].
ACCESSION   XP_047281017
VERSION     XP_047281017.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425061.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..792
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..792
                     /product="coiled-coil domain-containing protein R3HCC1L
                     isoform X1"
                     /calculated_mol_wt=87752
     Region          644..708
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     CDS             1..792
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /coded_by="XM_047425061.1:554..2932"
                     /db_xref="GeneID:27291"
                     /db_xref="HGNC:HGNC:23512"
ORIGIN      
        1 mqqesercrv rarrpdmaly vpkarrgavl lktgdeeesc gspnsvvkek qkesslsqke
       61 vfkdkpearr lninpdrkeh ncreekksst klrmdtclqk tnrvcskrgt teskevlsqg
      121 qqqgapnagv itnaplqrhf kpkkveclev ettdvtgher illsqaclei seaqvpskpf
      181 qnvefcdfsr hepdgeafed kdlegrietd tkvleilyef prvfssvmkp enmivpikls
      241 sdseivqqsm qtsdgilnps sggitttsvp gspdgvfdqt cvdfevesvg gianstgfil
      301 dqkdtdsipa tmghislses tndtvspvmi recekndsta delhvkhepp dtavlaheth
      361 rdsgfknvgd itnkacmmdt tgmscsdhvt vdspyvvavr iadetsintr sfskfvgmsa
      421 datplhvars gndtedfsnp sacsdiyges isshftestg klieslsdca sslpikkiag
      481 snyntfldse lsmlngtkvl sdsavgidlg stgdttealh elrtaeefkt eeqddsgsie
      541 fgvsfpdres ssmetsiepk atetshtegi taieeswesm fnddgdcldp rllqegilmh
      601 ikpenhcskl sgntksresi qeprsdyynh evpdidlsdc efphvieiyd fpqefhtedl
      661 lrvfcsyqkk gfdikwvddt halgvfsspi tardalgikh tmvkirplsq atraakakar
      721 ayaeflqpak erpetsaala rrlvisalgv rskqsktere aelkklqear erkrleakqr
      781 ediwegrdqs tv
//
LOCUS       XP_016873044             364 aa            linear   PRI 20-MAR-2023
DEFINITION  dickkopf-related protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_016873044
VERSION     XP_016873044.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017555.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..364
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..364
                     /product="dickkopf-related protein 3 isoform X1"
                     /calculated_mol_wt=39819
     Region          41..196
                     /region_name="Dkk3_N_Cys1"
                     /note="N-terminus of Dickkopf-related protein 3; includes
                     the first cysteine-rich (Cys-1) domain; cd23014"
                     /db_xref="CDD:438008"
     Region          199..278
                     /region_name="Dkk3_Cys2"
                     /note="second cysteine-rich (Cys-2) domain of
                     Dickkopf-related protein 3; cd23274"
                     /db_xref="CDD:438000"
     CDS             1..364
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /coded_by="XM_017017555.2:129..1223"
                     /db_xref="GeneID:27122"
                     /db_xref="HGNC:HGNC:2893"
                     /db_xref="MIM:605416"
ORIGIN      
        1 mqrlgatllc lllaaavpta papaptatsa pvkpgpalsy pqeeatlnem freveelmed
       61 tqhklrsave emeaeeaaak assevnlanl ppsyhnetnt dtkvgnntih vhreihkitn
      121 nqtgqmvfse tvitsvgdee grrsheciid edcgpsmycq fasfqytcqp crgqrmlctr
      181 dseccgdqlc vwghctkmat rgsngticdn qrdcqpglcc afqrgllfpv ctplpvegel
      241 chdpasrlld litwelepdg aldrcpcasg llcqphrlpr lepgfvpslp shslvyvckp
      301 tfvgsrdqdg eillprevpd eyevgsfmee vrqeledler slteemalre paaaaaallg
      361 geei
//
LOCUS       XP_005274355             505 aa            linear   PRI 20-MAR-2023
DEFINITION  cleavage and polyadenylation specificity factor subunit 7 isoform
            X2 [Homo sapiens].
ACCESSION   XP_005274355
VERSION     XP_005274355.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005274298.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..505
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..505
                     /product="cleavage and polyadenylation specificity factor
                     subunit 7 isoform X2"
                     /calculated_mol_wt=55290
     Region          32..>240
                     /region_name="RRM"
                     /note="RNA recognition motif (RRM) domain [Translation,
                     ribosomal structure and biogenesis]; COG0724"
                     /db_xref="CDD:223796"
     Region          124..213
                     /region_name="RRM_CFIm59"
                     /note="RNA recognition motif (RRM) found in pre-mRNA
                     cleavage factor Im 59 kDa subunit (CFIm59 or CPSF7) and
                     similar proteins; cd12644"
                     /db_xref="CDD:410049"
     Site            order(134..139,155,157..158,160..167)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410049"
     CDS             1..505
                     /gene="CPSF7"
                     /gene_synonym="CFIm59"
                     /coded_by="XM_005274298.5:146..1663"
                     /db_xref="GeneID:79869"
                     /db_xref="HGNC:HGNC:30098"
ORIGIN      
        1 mgrpesaggg srgpfegggr arraggiflt lsilrtrdlp sgamsegvdl idiyadeefn
       61 qdpefnntdq idlyddvlta tsqpsddrss steppppvrq epspkpnnkt pailytysgl
      121 rnrraavyvg sfswwttdqq liqvirsigv ydvvelkfae nrangqskgy aevvvasens
      181 vhkllellpg kvlngekvdv rpatrqnlsq feaqarkrip prahsrdssd sadgratpse
      241 nlvpssarvd kppsvlpyfn rppsalplmg lppppipppp plsssfgvpp pppgihyqhl
      301 mpppprlpph lavpppgaip palhlnpaff pppnatvgpp pdtymkasap ynhhgsrdsg
      361 pppstvseae fedimkrnra isssaiskav sgasagdysd aietlltaia vikqsrvand
      421 ercrvlissl kdclhgieak sysvgasgss srkrhrsrer spsrsressr rhrdllhned
      481 rhddyfqern reherhrdre rdrhh
//
LOCUS       XP_047286712             459 aa            linear   PRI 20-MAR-2023
DEFINITION  cell division cycle protein 16 homolog isoform X8 [Homo sapiens].
ACCESSION   XP_047286712
VERSION     XP_047286712.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430756.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..459
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..459
                     /product="cell division cycle protein 16 homolog isoform
                     X8"
                     /calculated_mol_wt=53241
     Region          15..93
                     /region_name="ANAPC3"
                     /note="Anaphase-promoting complex, cyclosome, subunit 3;
                     pfam12895"
                     /db_xref="CDD:432860"
     Region          36..64
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          69..93
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          <133..>450
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     Region          297..328
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          333..361
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          395..450
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     Region          395..421
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          426..451
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..459
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /coded_by="XM_047430756.1:189..1568"
                     /db_xref="GeneID:8881"
                     /db_xref="HGNC:HGNC:1720"
                     /db_xref="MIM:603461"
ORIGIN      
        1 mnlerlrkrv rqyldqqqyq salfwadkva slsrepqdiy wlaqclylta qyhraahalr
       61 srkldklyea crylaarchy aakehqqald vldmeepink rlfekylkde sgfkdpssdw
      121 emsqssikss icllrgkiyd aldnrtlaty sykealkldv ycfeafdllt shhmltaqee
      181 kelleslpls klcneeqell rflfenklkk ynkpsetvip esvdglqenl dvvvslaerh
      241 yyncdfkmcy kltsvvmekd pfhasclpvh igtlvelnka nelfylshkl vdlypsnpvs
      301 wfavgcyylm vghkneharr ylskattlek tygpawiayg hsfavesehd qamaayftaa
      361 qlmkgwktae kwfldaleki kaignevtvd kwepllnnlg hvcrklkkya ealdyhrqal
      421 vlipqnasty saigyihslm gnfenavdyf hteqtlktn
//
LOCUS       XP_016876585            2235 aa            linear   PRI 20-MAR-2023
DEFINITION  pecanex-like protein 1 isoform X11 [Homo sapiens].
ACCESSION   XP_016876585
VERSION     XP_016876585.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017021096.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2235
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..2235
                     /product="pecanex-like protein 1 isoform X11"
                     /calculated_mol_wt=247385
     Region          1676..1902
                     /region_name="Pecanex_C"
                     /note="Pecanex protein (C-terminus); pfam05041"
                     /db_xref="CDD:428274"
     CDS             1..2235
                     /gene="PCNX1"
                     /gene_synonym="PCNX; PCNXL1; pecanex"
                     /coded_by="XM_017021096.2:393..7100"
                     /db_xref="GeneID:22990"
                     /db_xref="HGNC:HGNC:19740"
                     /db_xref="MIM:617655"
ORIGIN      
        1 mgsqtlqilr qgvwaalsgg wyydphqatf vnalhlylwl fllglpftly malpstmiiv
       61 avycpviaav fivlkmvnyr lhraldagev vdrtaneftd qrtkaeqgnc strrkdsngp
      121 sdpgggiems efireatppv gcssrnsyag ldpsnqigsg ssrlgtaati kgdtdtakts
      181 ddislslgqs sslckegsee qdlaadrklf rlvsndsfis iqpslsscgq dlprdfsdkv
      241 nlpshnhhhh vdqslssacd tevaslvplh shsyrkdhrp rgvprtsssa vafpdtslnd
      301 fplyqqrrgl dpvselessk plsgskeslv ensglsgefq lagdlkints qpptksgksk
      361 plkaeksmds lrslstrssg stesycsgtd rdtnstvssy kseqtssthi esilsehees
      421 pkagtksgrk keccagpeek nscasdkrts sekiameast nsgvheakdp tpsdemhnqr
      481 glstsaseea nknphaneft sqgdrppgnt aenkeeksdk savsvdskvr kdvggkqkeg
      541 dvrpksssvi hrtasahksg rrrtgkkras sfdssrhrdy vcfrgvsgtk phsaifchde
      601 dssdqsdlsr assvqsahqf ssdsssstts hscqspegry salktkhthk ergtdsehth
      661 kahlvpegts kkratrrtss tnsaktrarv lsldsgtvac lndsnrlmap esikplttsk
      721 sdleakegev ldelsllgra sqletvtrsr nslpnqvafp egeeqdavsg gkfsstlyet
      781 ggcdmslvnf epaarrasni cdtdshvsss tsvrfyphdv lslpqirlnr lltidtdlle
      841 qqdidlspdl aatygpteea aqkvkhyyrf wilpqlwigi nfdrltllal fdrnreilen
      901 vlavilailv aflgsilliq gffrdiwvfq fclviascqy sllksvqpds ssprhghnri
      961 iaysrpvyfc iccgliwlld ygsrnltatk fklygitftn plvfisardl vivftlcfpi
     1021 vffigllpqv ntfvmylceq ldihifggna ttsllaalys ficsivaval lyglcygalk
     1081 dswdgqhipv lfsifcgllv avsyhlsrqs sdpsvlfslv qskifpktee knpedplsev
     1141 kdplpeklrn svserlqsdl vvcivigvly faihvstvft vlqpalkyvl ytlvgfvgfv
     1201 thyvlpqvrk qlpwhcfshp llktleynqy evrnaatmmw feklhvwllf vekniiypli
     1261 vlnelsssae tiaspkklnt elgalmitva glkllrssfs sptyqyvtvi ftvlffkfdy
     1321 eafsetmlld lffmsilfnk lwellyklqf vytyiapwqi twgsafhafa qpfavphsam
     1381 lfiqaavsaf fstplnpflg saifitsyvr pvkfwerdyn tkrvdhsntr lasqldrnpg
     1441 sddnnlnsif yehltrslqh slcgdlllgr wgnystgdcf ilasdylnal vhlieigngl
     1501 vtfqlrglef rgtycqqrev eaitegveed egfcccepgh iphmlsfnaa fsqrwlawev
     1561 ivtkyilegy sitdnsaasm lqvfdlrkvl ttyyvkgiiy yvttssklee wlanetmqeg
     1621 lrlcadrnyv dvdptfnpni dedydhrlag isresfcviy lnwieycssr rakpvdvdkd
     1681 sslvtlcygl cvlgrralgt ashhmssnle sflyglhalf kgdfrissir dewifadmel
     1741 lrkvvvpgir msiklhqdhf tspdeyddpt vlyeaivshe knlviahegd pawrsavlan
     1801 spsllalrhv mddgtneyki imlnrrylsf rvikvnkecv rglwagqqqe lvflrnrnpe
     1861 rgsiqnakqa lrnminsscd qpigypifvs plttsysdsh eqlkdilggp islgnirnfi
     1921 vstwhrlrkg cgagcnsggn iedsdtgggt sctgnnatta nnphsnvtqg signpgqgsg
     1981 tglhppvtsy pptlgtshss hsvqsglvrq sparasvasq ssycyssrhs slrmsttgfv
     2041 pcrrsstsqi slrnlpssiq srlsmvnqme psgqsglacv qhglpsssss sqsipackhh
     2101 tlvgflateg gqssatdaqp gntlspanns hsrkaeviyr vqivdpsqil eginlskrke
     2161 lqwpdegirl kagrnswkdw spqegmeghv ihrwvpcsrd pgtrshidka vllvqiddky
     2221 vtvietgvle lgaev
//
LOCUS       XP_047289182            4884 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase HERC1 isoform X15 [Homo
            sapiens].
ACCESSION   XP_047289182
VERSION     XP_047289182.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433226.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4884
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..4884
                     /product="probable E3 ubiquitin-protein ligase HERC1
                     isoform X15"
                     /calculated_mol_wt=534537
     Region          374..731
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          2041..2198
                     /region_name="SPRY_HERC1"
                     /note="SPRY domain in HERC1; cd12881"
                     /db_xref="CDD:293939"
     Region          2754..2797
                     /region_name="UBA_HERC1"
                     /note="UBA domain found in probable E3 ubiquitin-protein
                     ligase HERC1 and similar proteins; cd14401"
                     /db_xref="CDD:270584"
     Region          3447..3798
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(3450,3468,3472,3478..3479,3506..3507,3529,
                     3535..3536,3548..3549,3574,3579,3585..3586,3604,3621,3626,
                     3647..3648,3666,3670,3676..3677,3690..3691,3715,3720,
                     3726..3727,3768..3769,3787,3791,3797..3798)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          3455..3498
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3512..3547
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3552..3599
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3608..3643
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3652..3688
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3695..3726
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3773..3809
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          4021..4369
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          4496..4864
                     /region_name="HECTc"
                     /note="HECT domain; C-terminal catalytic domain of a
                     subclass of Ubiquitin-protein ligase (E3). It binds
                     specific ubiquitin-conjugating enzymes (E2), accepts
                     ubiquitin from E2, transfers ubiquitin to substrate lysine
                     side chains, and transfers additional...; cd00078"
                     /db_xref="CDD:238033"
     Site            order(4501,4542,4553,4620,4798,4828..4829,4832..4836,4856,
                     4863)
                     /site_type="active"
                     /note="catalytic cleft [active]"
                     /db_xref="CDD:238033"
     Site            order(4648,4651..4652,4654..4655,4658,4666,4668,
                     4672..4673,4675,4684,4689,4706,4710)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..4884
                     /gene="HERC1"
                     /gene_synonym="MDFPMR; p532; p619"
                     /coded_by="XM_047433226.1:154..14808"
                     /db_xref="GeneID:8925"
                     /db_xref="HGNC:HGNC:4867"
                     /db_xref="MIM:605109"
ORIGIN      
        1 matmippvkl kwlehlnssw itedsesiat regvavlysk lvsnkevvpl pqqvlclkgp
       61 qlpdferesl ssdeqdhyld allssqlala kmvcsdspfa galrkrllvl qrvfyalsnk
      121 yhdkgkvkqq qhspesssgs advhsvserp rsstdaliem gvrtglsllf allrqswmmp
      181 vsgpglslcn dvihtaievv sslpplslan eskippmgld clsqvttflk gvtipnsgad
      241 tlgrrlasel llglaaqrgs lryllewiem algasavvht mekgkllssq egmisfdcfm
      301 tilmqmrrsl gssadrsqwr eptrtsdglc slyeaalclf eevcrmasdy srtcaspdsi
      361 qtgdapivse tcevyvwgsn sshqlvegtq ekilqpklap sfsdaqtiea gqyctfvist
      421 dgsvracgkg sygrlglgds nnqstlkklt fephrsikkv ssskgsdght lafttegevf
      481 swgdgdygkl ghgnsstqky pkliqgplqg kvvvcvsagy rhsaavtedg elytwgegdf
      541 grlghgdsns rniptlvkdi snvgevscgs shtialskdg rtvwsfgggd ngklghgdtn
      601 rvykpkviea lqgmfirkvc agsqsslalt stgqvyawgc gaclgcgsse atalrpklie
      661 elaatrivdv sigdshclal shdnevyawg nnsmgqcgqg nstgpitkpk kvsgldgiai
      721 qqisagtshs lawtalprdr qvvawhrpyc vdleestfsh lrsflerycd kinseipplp
      781 fpssrehhsf lklclkllsn hlalalaggv atsilgrqag plrnllfrlm dstvpdeiqe
      841 vvietlsvga tmllpplrer mellhsllpq gpdrweslsk gqrmqldiil tslqdhthva
      901 sllgysspsd aadlssvctg ygnlsdqpyg tqschpdthl aeilmktllr nlgfytdqaf
      961 geleknsdkf llgtsssens qpahlhellc slqkqllafc hinnisenss svallhkhlq
     1021 lllphatdiy srsanllkes pwngsvgekl rdviyvsaag smlcqivnsl lllpvsvarp
     1081 llsylldllp pldclnrllp aadlledqel qwplhggpel idpaglplpq paqswvwlvd
     1141 lertiallig rclggmlqgs pvspeeqdta ywmktplfsd gvemdtpqld kcmsclleva
     1201 lsgneeqkpf dyklrpeiav yvdlalgcsk eparslwism qdyavskdwd satlsnesll
     1261 dtvsrfvlaa llkhtnllsq acgesryqpg khlsevyrcv ykvrsrllac knleliqtrs
     1321 ssrdrwisen qdsadvdpqe hsftrtidee aemeeqaerd reeghpeped eeeerehevm
     1381 tagnlvfvlh vteifqcfls arevarsrdr drmnsgagsg araddpppqs qqerrvstdl
     1441 pegqdvytaa cnsvihrcal lilgvspvid elqkrreegq lqqpstsase ggglmtrses
     1501 ltaesrlvht spnyrliksr sesdlsqpes deegyalsgr rnvdldlaas hrkrgpmhsq
     1561 leslsdswar lkhsrdwlcn ssysfesdfd ltkslgvhtl ienvvsfvsg dvgnapgfke
     1621 peesmstspq asiiameqqq lraelrleal hqilvllsgm eekgsislag srlssgfqss
     1681 tlltsvrlqf lagcfglgtv ghtggkgesg rlhhyqdgir aakrniqiei qvavhkiyqq
     1741 lsatleralq ankhhieaqq rlllvtvfal svhyqpvdvs laistgllnv lsqlcgtdtm
     1801 lgqplqllpk tgvsqlstal kvastrllqi laittgtyad klspkvvqsl ldllcsqlkn
     1861 llsqtgvlhm asfgegeqed geeeekkvds sgetekkdfr aalrkqhaae lhlgdflvfl
     1921 rrvvsskaiq skmaspkwte vllniasqkc ssgiplvgnl rtrllalhvl eavlpacesg
     1981 veddqmaqiv erlfsllsdc mwetpiaqak haiqikekeq eiklqkqgel eeedenlpiq
     2041 evsfdpekaq cclvengqil thgsggkgyg lastgvtsgc yqwkfyivke nrgnegtcvg
     2101 vsrwpvhdfn hrttsdmwly raysgnlyhn geqtltlssf tqgdfitcvl dmeartisfg
     2161 kngeepklaf edvdaaelyp cvmfyssnpg ekvkicdmqm rgtprdllpg dpicspvaav
     2221 laeatiqlir ilhrtdrwty cinkkmmerl hkikicikes gqklkksrsv qsreenemre
     2281 ekeskeeekg khtrhgladl selqlrtlci evwpvlavig gvdaglrvgg rcvhkqtgrh
     2341 atllgvvkeg stsakvqwde aeitisdtpl ynlepceplp fdvarfrglt asvlldltyl
     2401 tgvhedmgkq stkrhekkhr heseekgdve qkpesesald mrtgltsddv ksqsttssks
     2461 eneiasfsld ptlpsvesqh qitegkrknh ehmsknhdva qseiravqls ylylgamksl
     2521 sallgcskya elllipkvla enghnsdcas spvvhedvem raalqflmrh mvkravmrsp
     2581 ikralgladl eraqamiykl vvhglledqf ggkikqeidq qaeesdpaqq aqtpvttsps
     2641 assttsfmss sledtttatt pvtdtetvpa sespgvmpls llrqmfssyp tttvlptrra
     2701 qtppisslpt spsdevgrrq sltspdsqsa rpanrtalsd pssrlstspp ppaiavplle
     2761 mgfslrqiak ameatgarge adaqnitvla mwmiehpghe deeepqsgst adsrpgaavl
     2821 gsggksndpc ylqspgdips adaaemeegf sespdnldht enaasgsgps argrsavtrr
     2881 hkfdlaartl laraaglyrs vqahrnqsrr egislqqdpg alydfnldee leidlddeam
     2941 eamfgqdlts dndilgmwip evldwptwhv cesedreevv vcelcecsvv sfnqhmkrnh
     3001 pgcgrsanrq gyrsngsyvd gwfggecgsg npyyllcgtc rekylamktk skstsseryk
     3061 gqapdligkq dsvyeedwdm ldvdedeklt geeefellag plglndrriv pepvqfpdsd
     3121 plgasvamvt atnsmeetlm qielcfsgch gsveksssgr itlgeqaaal anphdrvval
     3181 rrvtaaaqvl lartmvmral sllsvsgssc slaagleslg ltdirtlvrl mclaaagrag
     3241 lstspsamas tsersrgghs kankpiscla ylstavgcla snapsaakll vqlctqnlis
     3301 aatgvnlttv ddsiqrkflp sflrgiaeen klvtspnfvv tqalvallad kgaklrpnyd
     3361 ksevekkgli aqlyahpsyd psavgplela nalaacclss rlssqhrqwa aqqlvrtlaa
     3421 hdrdnqttlq tladmggdlr kcsfikleah qnrvmtcvwc nkkgllatsg ndgtirvwnv
     3481 tkkqyslqqt cvfnrlegda eeslgspsdp sfspvswsis gkylagalek mvniwqvngg
     3541 kglvdiqphw vsalawpeeg patawsgesp elllvgrmdg slglievvdv stmhrreleh
     3601 cyrkdvsvtc iawfsedrpf avgyfdgkll lgtkeplekg givlidahkd tlismkwdpt
     3661 ghilmtcake dsvklwgsis gcwcclhslc hpsivngiaw crlpgkgskl qllmatgcqs
     3721 glvcvwripq dttqtnvtsa egwweqesnc qdgyrkssga kcvyqlrghi tpvrtvafss
     3781 dglalvsggl gglmniwslr dgsvlqtvvi gsgaiqttvw ipevgvaacs nrskdvlvvn
     3841 ctaewaaanh vlatcrtalk qqgvlglnma pcmraflerl pmmlqeqyay ekphvvcgdq
     3901 lvhspymqcl aslavglhld qllcnppvpp hhqnclpdpa swnpnewawl ecfsttikaa
     3961 ealtngaqfp esftvpdlep vpedelvflm dnskwingmd eqimswatsr pedwhlggkc
     4021 dvylwgagrh gqlaeagrnv mvpaaapsfs qaqqvicgqn ctfviqangt vlacgegsyg
     4081 rlgqgnsddl hvltvisalq gfvvtqlvts cgsdghsmal tesgevfswg dgdygklghg
     4141 nsdrqrrprq iealqgeevv qmscgfkhsa vvtsdgklft fgngdygrlg lgntsnkklp
     4201 ervtalegyq igqvacglnh tlavsadgsm vwafgdgdyg klglgnstak sspqkidvlc
     4261 gigikkvacg tqfsvaltkd ghvytfgqdr liglpegrar nhnrpqqipv lagviiedva
     4321 vgaehtlala sngdvyawgs nsegqlglgh tnhvreptlv tglqgknvrq isagrchsaa
     4381 wtappvppra pgvsvplqlg lpdtvppqyg alrevsihtv rarlrllyhf sdlmysswrl
     4441 lnlspnnqns tshynagtwg ivqgqlrpll aprvytlpmv rsigktmvqg knygpqitvk
     4501 ristrgrkck pifvqiarqv vklnasdlrl psrawkvklv gegaddaggv fddtitemcq
     4561 eletgivdll ipspnataev gynrdrflfn psacldehlm qfkflgilmg vairtkkpld
     4621 lhlaplvwkq lccvpltled leevdllyvq tlnsilhied sgiteesfhe mipldsfvgq
     4681 sadgkmvpii pggnsipltf snrkeyvera ieyrlhemdr qvaavregms wivpvpllsl
     4741 ltakqleqmv cgmpeisvev lkkvvryrev deqhqlvqwf whtleefsne ervlfmrfvs
     4801 grsrlpanta disqrfqimk vdrpydslpt sqtcffqlrl ppyssqlvma erlryainnc
     4861 rsidmdnyml srnvdnaegs dtdy
//
LOCUS       XP_047291394             559 aa            linear   PRI 20-MAR-2023
DEFINITION  cilia- and flagella-associated protein 52 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047291394
VERSION     XP_047291394.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435438.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..559
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..559
                     /product="cilia- and flagella-associated protein 52
                     isoform X2"
                     /calculated_mol_wt=60852
     Region          <23..337
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          47..89
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          94..133
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          141..176
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          196..455
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(198,202,207..208,220..221,239,243,249..250,262..263,
                     281,291..292,305,322,327,333..334,347..348,366,370,
                     376..377,391..392,409,414,420..421,433,451,455)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          226..262
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          267..304
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          310..345
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          352..390
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          396..432
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..559
                     /gene="CFAP52"
                     /gene_synonym="HTX10; WDR16; WDRPUH"
                     /coded_by="XM_047435438.1:55..1734"
                     /db_xref="GeneID:146845"
                     /db_xref="HGNC:HGNC:16053"
                     /db_xref="MIM:609804"
ORIGIN      
        1 mdnkispeaq vaeleldavi gfndiilwdy knrellarls lhkgkieala fspndlylvs
       61 lggpddgsvv vwsiakrdai cgspaaglnv gnatnvifsr crdemfmtag ngtirvweld
      121 lpnrkiwpte cqtgqlkriv msigvdddds ffylgtttgd ilkmnprtkl ltdvgpakdk
      181 fslgvsairc lkmggllvgs gagllvfcks pgykpikkiq lqggitsitl rgeghqflvg
      241 teeshiyrvs ftdfketlia tchfdavedi vfpfgtaelf atcakkdirv whtssnrell
      301 ritvpnmtch gidfmrdgks iisawndgki rafapetgrl myvinnahri gvtaiattsd
      361 ckrvisggge gevrvwqigc qtqkleealk ehkssvscir vkrnneecvt astdgtciiw
      421 dlvrlrrnqm ilantlfqcv cyhpeefqii tsgtdrkals ecsflrnfhc lkaargtgaa
      481 akprsvglrg kegwgirprr lpvsaagaap grgrggpalp wrglvvppds ragrgcpalg
      541 sasapsphtw pagsrhqep
//
LOCUS       XP_047292169             202 aa            linear   PRI 20-MAR-2023
DEFINITION  ADP-ribosylation factor-like 17-like isoform X1 [Homo sapiens].
ACCESSION   XP_047292169
VERSION     XP_047292169.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436213.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..202
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..202
                     /product="ADP-ribosylation factor-like 17-like isoform X1"
                     /calculated_mol_wt=21753
     Region          1..>87
                     /region_name="Cas3_I"
                     /note="CRISPR/Cas system-associated protein Cas3; cl41983"
                     /db_xref="CDD:455328"
     Region          115..175
                     /region_name="ARL17"
                     /note="ADP-ribosylation factor-like protein 17; pfam15840"
                     /db_xref="CDD:434971"
     CDS             1..202
                     /gene="ARL17A"
                     /gene_synonym="ARF1P2; ARL17P1"
                     /coded_by="XM_047436213.1:140..748"
                     /db_xref="GeneID:51326"
                     /db_xref="HGNC:HGNC:24096"
ORIGIN      
        1 mgnifeklfk sllgkkkmri lilsldtagk ttilyklklg etvpavptvg fcvetveykn
       61 ntfavwdvgs hfkirplwqh ffqntkgars pgsthqgsla sgvlpikcsh vefgmwkggr
      121 shpflphssr cagsggqlds ilphqspawg pwgckdlssg fpsfltssil wksavglapl
      181 trlecsgvil ahcnvlfpss gs
//
LOCUS       XP_047294258             509 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 320 isoform X1 [Homo sapiens].
ACCESSION   XP_047294258
VERSION     XP_047294258.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438302.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..509
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..509
                     /product="zinc finger protein 320 isoform X1"
                     /calculated_mol_wt=59196
     Region          7..48
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          <25..216
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          147..483
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          163..183
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          191..211
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          219..239
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          247..267
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          275..295
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          303..323
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(308,310,312,314..315,318..319,322,336,338,342..343,
                     346..347,350,364,366,368,370..371,374..375,378)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          331..351
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          359..379
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          387..407
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(392,394,396,398..399,402..403,406,420,422,426..427,
                     430..431,434,448,450,452,454..455,458..459,462)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          415..435
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          443..463
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          471..490
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..509
                     /gene="ZNF320"
                     /gene_synonym="ZFPL"
                     /coded_by="XM_047438302.1:544..2073"
                     /db_xref="GeneID:162967"
                     /db_xref="HGNC:HGNC:13842"
                     /db_xref="MIM:606427"
ORIGIN      
        1 malsqglltf rdvaiefsqe ewkcldpaqr tlyrdvmlen yrnlvsldis skcmmntlss
       61 tgqgntevih tgtlqrqasy higafcsqei ekdihdfvfq wqedetndhe apmteikklt
      121 sstdrydqrh agnkpikgql esrfhlhlrr hrrihtgekp ykceecekvf sckshleihr
      181 iihtgekpyk ckvcdkafkh dshlakhtri hrgdkhytcn ecgkvfdqka tlachhrsht
      241 gekpykcnec gktfsqtshl vyhhrlhtge kpykcnecgk tfarnsvlvi hkavhtaekp
      301 ykcnecgkvf kqratlaghr rvhtgekpyr ceecdkvfsr kshlerhrri htgekpykck
      361 vcdkafrsds rlaehqrvht gerpytcnec gkvfstkayl achqklhtge klyeceecdk
      421 vyirkshler hrrihtgekp hkcgdcgkaf nspshlirhq rihtgqksyk chqcgkvfsl
      481 rsllaehqki pfgdncfkcn eyskpssin
//
LOCUS       XP_016858680             974 aa            linear   PRI 20-MAR-2023
DEFINITION  adenylate cyclase type 3 isoform X21 [Homo sapiens].
ACCESSION   XP_016858680
VERSION     XP_016858680.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017003191.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..974
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..974
                     /product="adenylate cyclase type 3 isoform X21"
                     /calculated_mol_wt=109990
     Region          <12..91
                     /region_name="AC_N"
                     /note="Adenylyl cyclase N-terminal extracellular and
                     transmembrane region; pfam16214"
                     /db_xref="CDD:318454"
     Region          98..304
                     /region_name="Guanylate_cyc"
                     /note="Adenylate and Guanylate cyclase catalytic domain;
                     pfam00211"
                     /db_xref="CDD:425528"
     Site            order(110,112..117,152,154..156,159,221..223,227..228,
                     231..232)
                     /site_type="active"
                     /note="nucleotidyl binding site [active]"
                     /db_xref="CDD:143636"
     Site            order(112,156)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:143636"
     Site            order(117,129,132..133,136,140,152..153,209,212,222..225,
                     228)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143636"
     Region          744..951
                     /region_name="Guanylate_cyc"
                     /note="Adenylate and Guanylate cyclase catalytic domain;
                     pfam00211"
                     /db_xref="CDD:425528"
     Site            order(756,758..762,767,805,807..809,812,892..894,898..899,
                     902..903,939)
                     /site_type="active"
                     /note="nucleotidyl binding site [active]"
                     /db_xref="CDD:143636"
     Site            order(758,809)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:143636"
     Site            order(767,779,782..783,786,790,805..806,880,883,893..896,
                     899,939)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143636"
     CDS             1..974
                     /gene="ADCY3"
                     /gene_synonym="AC-III; AC3; BMIQ19"
                     /coded_by="XM_017003191.1:93..3017"
                     /db_xref="GeneID:109"
                     /db_xref="HGNC:HGNC:234"
                     /db_xref="MIM:600291"
ORIGIN      
        1 mlscpecwph reeilanvfl ylcaiavgim syymadrkhr kaflearqsl evkmnleeqs
       61 qqqenlmlsi lpkhvademl kdmkkdesqk dqqqfntmym yrhenvsilf adivgftqls
      121 sacsaqelvk llnelfarfd klaakyhqlr ikilgdcyyc icglpdyred havcsilmgl
      181 amveaisyvr ektktgvdmr vgvhtgtvlg gvlgqkrwqy dvwstdvtva nkmeaggipg
      241 gskieerlys cvvaptlrlr wervhisqst mdclkgefdv epgdggsrcd yleekgiety
      301 liiaskpevk ktatqnglng salpngapas skssspalie tkepngsahs sgstsekpee
      361 qdaqlfpttl shlphsrclp gsqadnpsfp nprrrlrlqd ladrvvdase dehelnqlln
      421 ealleresaq vvkkrntfll smrfmdpeme trysvekekq sgaafscscv vllctalvei
      481 lidpwlmtny vtfmvgeill lilticslaa ifprafpkkl vafstwidrt rwarntwaml
      541 aifilvmanv vdmlsclqyy tgpsnatagm etegsclenp kyynyvavls liatimlvqv
      601 shmvkltlml lvagavatin lyawrpvfde ydhkrfrehd lpmvaleqmq gfnpglngtd
      661 srlplvpsky smtvmvflmm lsfyyfsrhv eklartlflw kievhdqker vyemrrwnea
      721 lvtnmlpehv arhflgskkr deelysqtyd eigvmfaslp nfadfytees innggieclr
      781 flneiisdfd slldnpkfrv itkiktigst ymaasgvtpd vntngfassn kedksererw
      841 qhladladfa lamkdtltni nnqsfnnfml rigmnkggvl agvigarkph ydiwgntvnv
      901 asrmestgvm gniqvveetq vilreygfrf vrrgpifvkg kgelltfflk grdklatfpn
      961 gpsvtlphqv vdns
//
LOCUS       XP_047300347             559 aa            linear   PRI 20-MAR-2023
DEFINITION  microtubule-associated protein 2 isoform X15 [Homo sapiens].
ACCESSION   XP_047300347
VERSION     XP_047300347.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444391.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..559
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..559
                     /product="microtubule-associated protein 2 isoform X15"
                     /calculated_mol_wt=58823
     Region          <175..389
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     Region          365..391
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          393..422
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          424..453
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          455..485
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     CDS             1..559
                     /gene="MAP2"
                     /gene_synonym="MAP-2; MAP2A; MAP2B; MAP2C"
                     /coded_by="XM_047444391.1:32..1711"
                     /db_xref="GeneID:4133"
                     /db_xref="HGNC:HGNC:6839"
                     /db_xref="MIM:157130"
ORIGIN      
        1 maderkdeak aphwtsaplt easahshppe ikdqggageg lvrsangfpy redeegafge
       61 hgsqgtysnt kengingelt sadretaeev sarivqvvta eavavlkgeq ekeaqhkdqt
      121 aalplaaeet anlppsppps paseqtvtve eaaggesala psvfkqakdk vsnstlskip
      181 alqgstkspr yssacpsttk ratfsdslli qptsagstdr lpysksgnkd gvtkspekrs
      241 slprpssilp prrgvsgdrd ensfslnssi sssarrttrs epirragksg tstpttpgst
      301 aitpgtppsy ssrtpgtpgt psyprtphtp gtpksailvp sekkvaiirt ppkspatpkq
      361 lrlinqplpd lknvkskigs tdnikyqpkg gqvrilnkki dfskvqsrcg skdnikhsag
      421 ggnvqivtkk idlshvtskc gslknirhrp gggrvkiesv kldfkekaqa kvgsldnahh
      481 vpgggnvkid sqklnfreha karvdhgaei itqspgrssv asprrlsnvs ssgsinlles
      541 pqlatlaedv taalakqgl
//
LOCUS       XP_005260857             677 aa            linear   PRI 20-MAR-2023
DEFINITION  GDNF-inducible zinc finger protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_005260857
VERSION     XP_005260857.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005260800.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..677
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..677
                     /product="GDNF-inducible zinc finger protein 1 isoform X2"
                     /calculated_mol_wt=77050
     Region          6..133
                     /region_name="BTB_POZ_ZBTB23_GZF1"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in glial cell
                     line-derived neurotrophic factor-inducible zinc finger
                     protein 1 (GZF1); cd18211"
                     /db_xref="CDD:349520"
     Region          319..339
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          350..371
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <405..593
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          409..429
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(414,416,418,420..421,424..425,428,442,444,448..449,
                     452..453,456,470,472,474,476..477,480..481,484)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          437..457
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          465..485
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          493..513
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          521..541
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          549..569
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          577..593
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..677
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /coded_by="XM_005260800.4:78..2111"
                     /db_xref="GeneID:64412"
                     /db_xref="HGNC:HGNC:15808"
                     /db_xref="MIM:613842"
ORIGIN      
        1 mesgavlles ksspfnllhe mhelrllghl cdvtvsveyq gvrkdfmahk avlaatskff
       61 kevflneksv dgtrtnvyln evqvadfasf lefvytakvq veedrvqrml evaeklkcld
      121 lsetcfqlkk qmlesvllel qnfsesqeve vssgsqvsaa paprasvatd gphpsgltds
      181 ldypgerasn gmssdlppkk skdkldkkke vvkppypkir rasgrlagrk vfveipkkky
      241 trrlreqqkt aegdvgdyrc pqdqspdrvg temeqvskne gcqagaelee lskkagpeee
      301 eeeeeedeeg ekkksnfkcs icekaflyek sflkhskhrh gvatevvyrc dtcgqtfanr
      361 cnlkshqrhv hsserhfpce lcgkkfkrkk dvkrhvlqvh egggerhrcg qcgkglsskt
      421 alrlhertht gdrpygctec garfsqpsal kthmrihtge kpfvcdecga rftqnhmliy
      481 hkrchtgerp fmcetcgksf askeylkhhn rihtgskpfk cevcfrtfaq rnslyqhikv
      541 htgerpyccd qcgkqftqln alqrhrriht gerpfmcnac grtftdkstl rrhtsmarpr
      601 tmtdtrlnsl tksmchpsfr inccllqkma isttwlqskt lylpcrrtvl ltqparqmtp
      661 wcprtpswpp psvslas
//
LOCUS       XP_047305855            1658 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 131-like isoform X1 [Homo sapiens].
ACCESSION   XP_047305855
VERSION     XP_047305855.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449899.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1658
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1658
                     /product="transmembrane protein 131-like isoform X1"
                     /calculated_mol_wt=184762
     Region          120..203
                     /region_name="ASH"
                     /note="Abnormal spindle-like microcephaly-assoc'd,
                     ASPM-SPD-2-Hydin; cl13764"
                     /db_xref="CDD:449188"
     Region          214..1658
                     /region_name="TMEM131_like"
                     /note="Transmembrane protein 131-like; pfam19532"
                     /db_xref="CDD:437364"
     CDS             1..1658
                     /gene="TMEM131L"
                     /gene_synonym="KIAA0922"
                     /coded_by="XM_047449899.1:547..5523"
                     /db_xref="GeneID:23240"
                     /db_xref="HGNC:HGNC:29146"
                     /db_xref="MIM:616243"
ORIGIN      
        1 mlglrspecl vgclhshfvp ppparaprac lhavafaseg ppahtppivf lslarpwdgl
       61 csqeeketcf aieplpnvve lwqaeegell lptqgdseeg leepsqeqsf sdklfsgkgl
      121 hfqpsvldfg iqflghpvak ilhaynpsrd sevvvnsvfa aaghfhvppv pcrvipamgk
      181 tsfriiflpt eegsiesslf intssygvls yhvsgigtrr istegsakql pnayfllpkv
      241 qsiqlsqmqa ettntsllqv qlecslhnkv cqqlkgcyle sddvlrlqms imvtmenfsk
      301 efeentqhll dhlsivyvat desetsddsa vnmyilhsgn sliwiqdirh fsqrdalslq
      361 fepvllptst tnftkiasft ckaatscdsg iiedvkktth tptlkaclfs svaqgyfrmd
      421 ssatqfhiet hentsglwsi wyrnhfdrsv vlndvflske tkhmlkilnf tgplflppgc
      481 wnifslklav kdiainlftn vflttnigai faiplqiysa ptkegslgfe viahcgmhyf
      541 mgkskagnpn wngslsldqs twnvdselan klyerwkkyk ngdvckrnvl gttrfahlkk
      601 skesesfvff lprliaepgl mlnfsatalr srmikyfvvq npsswpvslq llplslypkp
      661 ealvhllhrw fgtdmqminf ttgefqltea cpylgthsee srfgilhlhl qplemkrvgv
      721 vftpadygkv tslilirnnl tvidmigveg fgarellkvg grlpgaggsl rfkvpestlm
      781 dcrrqlkdsk qilsitknfk venigplpit vsslkingyn cqgygfevld chqfsldpnt
      841 srdisivftp dftsswvird lslvtaadle frftlnvtlp hhllplcadv vpgpsweesf
      901 wrltvffvsl sllgviliaf qqaqyilmef mktrqrqnas sssqqnngpm dvisphsyks
      961 ncknfldtyg psdkgrgknc lpvntpqsri qnaakrspat yghsqkkhkc svyyskhkts
     1021 taaasststt teekqtsplg sslpaakedi ctdamrenwi slryasginv nlqknltlpk
     1081 nllnkeentl kntivfsnps secsmkegiq tcmfpketdi ktsentaefk erelcplkts
     1141 kklpenhlpr nspqyhqpdl peisrknngn nqqvpvknev dhcenlkkvd tkpssekkih
     1201 ktsredmfse kqdipfveqe dpyrkkklqe kregnlqnln wsksrtcrkn kkrgvapvsr
     1261 ppeqsdlklv csdfersels sdinvrswci qestrevcka daeiasslpa aqreaegyyq
     1321 kpekkcvdkf csdsssdcgs ssgsvrasrg swgswsstss sdgdkkpmvd aqhflpagds
     1381 vsqndfpsea pislnlshni cnpmtvnslp qyaepscpsl pagptgveed kefntgfksc
     1441 sahwriltle glyspgdlwp tppvcvtssl nctlengvpc viqesapvhn sfidwsatce
     1501 gqfssaycpl elndynafpe enmnyangfp cpadvqtdfi dhnsqstwnt ppnmpaawgh
     1561 asfissppyl tstrslspms glfgsiwapq sdvyenccpi npttehsthm enqavvckey
     1621 ypgfnpfray mnldiwttta nrnanfplsr dssycgnv
//
LOCUS       XP_047273303             551 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Spindly isoform X3 [Homo sapiens].
ACCESSION   XP_047273303
VERSION     XP_047273303.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417347.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..551
                     /product="protein Spindly isoform X3"
                     /calculated_mol_wt=63402
     Region          <16..312
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..551
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /coded_by="XM_047417347.1:2286..3941"
                     /db_xref="GeneID:54908"
                     /db_xref="HGNC:HGNC:26010"
                     /db_xref="MIM:616401"
ORIGIN      
        1 mleslscece aikqqqkmhl ekleeqlsrs hgqevnelkt kieklkveld earlsekqlk
       61 hqvdhqkell sckseelrvm servqesmss emlalqielt emesmkttlk eevnelqyrq
      121 eqlellitnl mrqvdrlkee keerekeavs yynalekarv anqdlqvqld qalqqaldpn
      181 skgnslfaev edrraamerq lismkvkyqs lkkqnvfnre qmqrmklqia tllqmkgsqt
      241 efeqqerlla mleqkngeik hllgeirnle kfknlydsme skpsvdsgtl edntyytdll
      301 qmkldnlnke iestkgelsi qrmkalfesq raldierklf anerclqlse senmklrakl
      361 delklkyepe etvevpvlkk rrevlpvdit takdacvnns alggevyrlp pqkeetqscp
      421 nslednnlql eksvsiytpv vslsphknlp vdmqlkkekk cvkligvpad aealsersgn
      481 tpnsprsvss fppgsqqtsp sllsrcmnca vcffiyflti acsiipqfhl ptfnfsrtlr
      541 ktkliakgkd s
//
LOCUS       XP_047274548             584 aa            linear   PRI 20-MAR-2023
DEFINITION  gamma-aminobutyric acid type B receptor subunit 1 isoform X7 [Homo
            sapiens].
ACCESSION   XP_047274548
VERSION     XP_047274548.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418592.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..584
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..584
                     /product="gamma-aminobutyric acid type B receptor subunit
                     1 isoform X7"
                     /calculated_mol_wt=65372
     Region          112..162
                     /region_name="Sushi"
                     /note="Sushi repeat (SCR repeat); pfam00084"
                     /db_xref="CDD:425458"
     Site            order(116,137)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          176..575
                     /region_name="PBP1_GABAb_receptor"
                     /note="ligand-binding domain of GABAb receptors, which are
                     metabotropic transmembrane receptors for
                     gamma-aminobutyric acid (GABA); cd06366"
                     /db_xref="CDD:380589"
     Site            order(192,273..274,471)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:380589"
     Site            order(228,231..232,234..235,239,260..261,263..265)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:380589"
     CDS             1..584
                     /gene="GABBR1"
                     /gene_synonym="GABABR1; GABBR1-3; GB1; GPRC3A"
                     /coded_by="XM_047418592.1:69..1823"
                     /db_xref="GeneID:2550"
                     /db_xref="HGNC:HGNC:4070"
                     /db_xref="MIM:603540"
ORIGIN      
        1 mpgawmllll llaplflrpp gaggaqtpna tsegcqiihp pweggiryrg ltrdqvkain
       61 flpvdyeiey vcrgerevvg pkvrkclang swtdmdtpsr cvricsksyl tlengkvflt
      121 ggdlpaldga rvdfrcdpdf hlvgssrsic sqgqwstpkp hcqvnrtphs erravyigal
      181 fpmsggwpgg qacqpavema ledvnsrrdi lpdyelklih hdskcdpgqa tkylyellyn
      241 dpikiilmpg cssvstlvae aarmwnlivl sygssspals nrqrfptffr thpsatlhnp
      301 trvklfekwg wkkiatiqqt tevftstldd leervkeagi eitfrqsffs dpavpvknlk
      361 rqdariivgl fyetearkvf cevykerlfg kkyvwfligw yadnwfkiyd psinctvdem
      421 teaveghitt eivmlnpant rsisnmtsqe fvekltkrlk rhpeetggfq eaplaydaiw
      481 alalalnkts ggggrsgvrl edfnynnqti tdqiyramns ssfegvsghv vfdasgsrma
      541 wtlieqlqgg sykkigyyds tkddlswskt dkwigpplap gpgl
//
LOCUS       XP_047275203             782 aa            linear   PRI 20-MAR-2023
DEFINITION  PR domain zinc finger protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_047275203
VERSION     XP_047275203.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419247.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..782
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..782
                     /product="PR domain zinc finger protein 1 isoform X4"
                     /calculated_mol_wt=86634
     Region          81..208
                     /region_name="PR-SET_PRDM1"
                     /note="PR-SET domain found in PR domain zinc finger
                     protein 1 (PRDM1) and similar proteins; cd19187"
                     /db_xref="CDD:380964"
     Site            order(97..99,116,130..131,133..137,147,160..164,166,
                     175..176,200..201,203..204,207..208)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:380964"
     Site            order(97..99,133..134,160..164,166,200,204,208)
                     /site_type="other"
                     /note="putative SAM binding site"
                     /db_xref="CDD:380964"
     Region          591..610
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          591..610
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Site            order(595,597,599,601..602,605..606,609,623,625,629..630,
                     633..634,637,651,653,655,657..658,661..662)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          602..627
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          618..638
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          630..655
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          646..664
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..782
                     /gene="PRDM1"
                     /gene_synonym="BLIMP1; PRDI-BF1"
                     /coded_by="XM_047419247.1:219..2567"
                     /db_xref="GeneID:639"
                     /db_xref="HGNC:HGNC:9346"
                     /db_xref="MIM:603423"
ORIGIN      
        1 mldiclekrv gttlaapkcn sstvrfqgla egtkgtmkmd medadmtlwt eaefeekcty
       61 ivndhpwdsg adggtsvqae aslprnllfk yatnseevig vmskeyipkg trfgpligei
      121 ytndtvpkna nrkyfwriys rgelhhfidg fneeksnwmr yvnpahspre qnlaacqngm
      181 niyfytikpi panqellvwy crdfaerlhy pypgeltmmn ltqtqsslkq psteknelcp
      241 knvpkreysv keilkldsnp skgkdlyrsn ispltsekdl ddfrrrgspe mpfyprvvyp
      301 iraplpedfl kaslaygier ptyitrspip ssttpspsar sspdqslkss sphsspgntv
      361 spvgpgsqeh rdsyaylnas ygteglgsyp gyaplphlpp afipsynahy pkfllppygm
      421 ncnglsavss mnginnfglf prlcpvysnl lgggslphpm lnptslpssl psdgarrllq
      481 pehprevlvp aphsafsftg aaasmkdkac sptsgsptag taataehvvq pkatsaamaa
      541 pssdeamnli knkrnmtgyk tlpyplkkqn gkikyecnvc aktfgqlsnl kvchkrfsst
      601 snlkthlrlh sgekpyqckv cpakftqfvh lklhkrlhtr erphkcsqch knyihlcslk
      661 vhlkgncaaa papglpledl trineeiekf disdnadrle dveddisvis vvekeilavv
      721 rkekeetglk vslqrnmgng llssgcslye ssdlplmklp psnplplvpv kvkqetvepm
      781 dp
//
LOCUS       XP_047276048             857 aa            linear   PRI 20-MAR-2023
DEFINITION  transportin-3 isoform X1 [Homo sapiens].
ACCESSION   XP_047276048
VERSION     XP_047276048.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420092.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..857
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..857
                     /product="transportin-3 isoform X1"
                     /calculated_mol_wt=96539
     Region          55..183
                     /region_name="Xpo1"
                     /note="Exportin 1-like protein; pfam08389"
                     /db_xref="CDD:429967"
     CDS             1..857
                     /gene="TNPO3"
                     /gene_synonym="IPO12; LGMD1F; LGMDD2; MTR10A; TRN-SR;
                     TRN-SR2; TRNSR"
                     /coded_by="XM_047420092.1:6362..8935"
                     /db_xref="GeneID:23534"
                     /db_xref="HGNC:HGNC:17103"
                     /db_xref="MIM:610032"
ORIGIN      
        1 mkmkiqtsfy elptdshasl rdsllthiqn lkdlspvivt qlalaiadla lqmpswkgcv
       61 qtlvekysnd vtslpfllei ltvlpeevhs rslriganrr teiiedlafy sstvvsllmt
      121 cvekagtdek mlmkvfrclg swfnlgvlds nfmannklla llfevlqqdk tssnlheaas
      181 dcvcsalyai envetnlpla mqlfqgvltl etayhmavar edldkvlnyc riftelcetf
      241 lekivctpgq glgdlrtlel llicaghpqy evveisfnfw yrlgehlykt ndevihgifk
      301 ayiqrllhal arhcqlepdh egvpeetddf gefrmrvsdl vkdlifligs mecfaqlyst
      361 lkegnppwev teavlfimaa iaksvdpenn ptlvevlegv vrlpetvhta vrytsielvg
      421 emsevvdrnp qfldpvlgyl mkglcekpla saaakaihni csvcrdhmaq hfnglleiar
      481 sldsfllspe aavgllkgta lvlarlpldk iteclselcs vqvmalkkll sqepsngiss
      541 dptvfldrla vifrhtnpiv engqthpcqk viqeiwpvls etlnkhradn riverccrcl
      601 rfavrcvgkg saallqplvt qmvnvyhvhq hscflylgsi lvdeygmeeg crqglldmlq
      661 alciptfqll eqqnglqnhp dtvddlfrla trfiqrspvt llrsqvvipi lqwaiasttl
      721 dhrdancsvm rflrdlihtg vandheedfe lrkeligqvm nqlgqqlvsq llhtccfclp
      781 pytlpdvaev lweimqvdrp tfcrwlensl kglpkettvg avtvthkqlt dfhkqvtsae
      841 eckqvcwalr dftrlfr
//
LOCUS       XP_011514580             916 aa            linear   PRI 20-MAR-2023
DEFINITION  carbohydrate-responsive element-binding protein isoform X2 [Homo
            sapiens].
ACCESSION   XP_011514580
VERSION     XP_011514580.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011516278.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..916
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..916
                     /product="carbohydrate-responsive element-binding protein
                     isoform X2"
                     /calculated_mol_wt=99477
     Region          81..192
                     /region_name="NES2-NLS_ChREBP"
                     /note="nuclear export signal 2 (NES2) and nuclear import
                     signal (NLS) domains found in carbohydrate-responsive
                     element-binding protein (ChREBP), and similar proteins;
                     cd21771"
                     /db_xref="CDD:439287"
     Site            order(117,121,124,127..131,134)
                     /site_type="other"
                     /note="putative heterodimer interface [polypeptide
                     binding]"
                     /db_xref="CDD:439287"
     Site            order(124,127..128)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:439287"
     Region          <195..697
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          710..785
                     /region_name="bHLHzip_MLXIPL"
                     /note="basic Helix-Loop-Helix-zipper (bHLHzip) domain
                     found in MLX-interacting protein-like (MLXIPL) and similar
                     proteins; cd19689"
                     /db_xref="CDD:381532"
     Site            order(715,717..719,721..723,725..726,730,752..753)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381532"
     Site            order(729,732..733,735..736,739..741,754,757..758,761,
                     763..765,767..768,770..771,774,777..778,781..782,784..785)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381532"
     CDS             1..916
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /coded_by="XM_011516278.2:31..2781"
                     /db_xref="GeneID:51085"
                     /db_xref="HGNC:HGNC:12744"
                     /db_xref="MIM:605678"
ORIGIN      
        1 magalaglaa glqvprvaps pdsdsdtdse dpslrrsagg llrsqvihsg hfmvssphsd
       61 slprrrdqeg svgpsdfgpr sidptltrlf eclslaysgk lvspkwknfk glkllcrdki
      121 rlnnaiwraw yiqyvkrrks pvcgfvtplq gpeadahrkp eavvlegnyw krrievvmre
      181 yhkwriyykk rvsgggpgrp qsfppaaagy rpprkipgkg iltpelaplg psiqsradsa
      241 tvwpqrllaa slprgrlrkp sreddllapk qaegrwpppe qwckqlfssv vpvllgdpee
      301 epggrqlldl ncflsdisdt lftmtqsgps plqlppeday vgnadmiqpd ltplqpsldd
      361 fmdisdfftn srlpqppmps nfpeppsfsp vvdslfssgt lgpevppass amthlsghsr
      421 lqarnscpgp ldssaflssd fllpedpkpr lppppvpppl lhypppakvp glepcppppf
      481 ppmapptall qeeplfsprf pfptvppapg vsplpapaaf pptpqsvpsp aptpfpiell
      541 plgysepafg pcfsmprgkp papsprgqka spptlapata sppttagsnn pcltqlltaa
      601 kpeqaleppl vsstllrspg spetvpefpc tflpptpapt pprpppgpat lapsrpllvp
      661 kaerlsppap sgserrlsgd lssmpgpgtl svrvsppqpi lsrgrpdsnk tenrrithis
      721 aeqkrrfnik lgfdtlhglv stlsaqpslk vskattlqkt aeyilmlqqe raglqeeaqq
      781 lrdeieelna ainlcqqqlp atgvpithqr fdqmrdmfdd yvrtrtlhnw kfwvfsilir
      841 plfesfngmv stasvhtlrq tslawldqyc slpalrptvl nslrqlgtst siltdpgrip
      901 eqatravteg tlgkpl
//
LOCUS       XP_016867964             949 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase N2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_016867964
VERSION     XP_016867964.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017012475.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..949
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..949
                     /product="receptor-type tyrosine-protein phosphatase N2
                     isoform X2"
                     /calculated_mol_wt=104317
     Region          9..>63
                     /region_name="RESP18"
                     /note="RESP18 domain; pfam14948"
                     /db_xref="CDD:434338"
     Region          443..531
                     /region_name="Receptor_IA-2"
                     /note="Protein-tyrosine phosphatase receptor IA-2;
                     pfam11548"
                     /db_xref="CDD:431929"
     Region          661..943
                     /region_name="R-PTP-N2"
                     /note="PTP-like domain of receptor-type tyrosine-protein
                     phosphatase N2; cd14610"
                     /db_xref="CDD:350458"
     CDS             1..949
                     /gene="PTPRN2"
                     /gene_synonym="IA-2beta; IAR; ICAAR; PTPRP; R-PTP-N2"
                     /coded_by="XM_017012475.1:337..3186"
                     /db_xref="GeneID:5799"
                     /db_xref="HGNC:HGNC:9677"
                     /db_xref="MIM:601698"
ORIGIN      
        1 mdfyryevsp valqrlrval qklsgtgftw qddytqyvmd qeladlpkty lrrpeasspa
       61 rpskhsvgse rrysreggaa lanalrrhlp flealsqapa sdvlarthta qdrppaegdd
      121 rfsesiltyv ahtsaltypp gsrtqlredl lprtlgqlqp delspkvdsg vdrhhlmaal
      181 sayaaqrppa ppgegslepq yllrapsrmp rpllapaapq kwpsplgdse dpsstgdgar
      241 ihtllkdlqr qpaevrglsg leldgmaelm aglmqgvdhg vargspgraa lgesgeqadg
      301 pkatlrgdsf pddgvqdddd rlyqevhrls atlggllqdh gsrllpgalp farpldmerk
      361 ksehpessls seeetagven vksqtyskdl lgqqphsepg aaafgelqnq mpgpskeeqs
      421 lpagaqeals dglqlevqps eeeargyivt drdplrpeeg rrlvedvarl lqvpssafad
      481 vevlgpavtf kvsanvqnvt tedvekatvd nkdkleetsg lkilqtgvgs ksklkflppq
      541 aeqedstkfi altlvslaci lgvllasgli yclrhssqhr lkeklsglgg dpgadataay
      601 qelcrqrmat rppdrpegph tsrissvssq fsdgpipsps arssasswse epvqsnmdis
      661 tghmilsyme dhlknknrle kewealcayq aepnssfvaq reenvpknrs lavltydhsr
      721 vllkaenshs hsdyinaspi mdhdprnpay iatqgplpat vadfwqmvwe sgcvvivmlt
      781 plaengvrqc yhywpdegsn lyhiyevnlv sehiwcedfl vrsfylknlq tnetrtvtqf
      841 hflswydrgv psssrslldf rrkvnkcyrg rscpiivhcs dgagrsgtyv lidmvlnkma
      901 kgakeidiaa tlehlrdqrp gmvqtkeqfe faltavaeev nailkalpq
//
LOCUS       XP_011516063            1278 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein KIAA2026 isoform X5 [Homo sapiens].
ACCESSION   XP_011516063
VERSION     XP_011516063.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011517761.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1278
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1278
                     /product="uncharacterized protein KIAA2026 isoform X5"
                     /calculated_mol_wt=133595
     CDS             1..1278
                     /gene="KIAA2026"
                     /coded_by="XM_011517761.3:534..4370"
                     /db_xref="GeneID:158358"
                     /db_xref="HGNC:HGNC:23378"
ORIGIN      
        1 mkafqrnrsr lkkdyddfrr qpdhdtfnre lwttdegegd lgkdspkgei sksidstepl
       61 dilekdhfds ddmklseidf pmarskllkk elpskdlpkt llktlkrqsk qtdyvddstk
      121 elsprkkakl stnettvenl esdvqidcfs eskhtepsfp esfasldsvp vstlqkgtkp
      181 iqallaknig nkvtltnqlp pstgrnalav ekpvlsppea spikpaltch tntkgplqmv
      241 ykmpcgqwlp idlqnssvki qvqpmvdpkt gekimqqvli lpknfviqhk egkavakevp
      301 plqqkgteqh cssfpqttni nsslasvfvn spgtvstqlp ntafnktitp lsnissarpq
      361 plspvtsvsn lltpsvktsq seagkaknav saatfslpsa sptisstgqp lsstttlngs
      421 tnpgssfncf aqqtadssea kqelktvcir dsqsilvrtr ggntgvvkvq tnpdqnspnt
      481 vssssvftfa pqlqaflvpk sttsssafsp vagttttssl spfsqtptsv sipasfapsm
      541 gknlkltlgh ttgsgdlghv idktshmpss plkssicsst llpsttsssv svisisaanf
      601 gqnnaniiht ptkqqqvdyi tksypvtrse ataatngdvi sgtpvqklml vsapsilssg
      661 ngtainmtpa ltstgvsaqk lvfinapvps gtstptlvae slkqtlpppl hkayvktpeq
      721 pqivlipstv gtpikinssp avsqikdvki glnigqaivn tsgtvpaips inilqnvtpk
      781 gedksskgyi lplstsgnsv pvssnfvsqn itpvnesvvs saravnvlsv tganlslgsf
      841 pvtsasasag aqppvlvsgn dtssrimpil snrlcssslg ntvaistvkt ghlassvlis
      901 ttqpvvspkc ltsalqipvt valptpatts pkiintvphs aavpgatrsv siskrqsrts
      961 lqfhspgist tvptnvntnk pqtelsslst spgkitntsn faslpnqqal vktpsyssap
     1021 ggttihtasa psnvtslvgs qfsepciqqk ivintstpla pgtqimingt rfivppqglg
     1081 agshvllist npkygaplvl nsgqgiqstp idnsaqkitl asnnslsgqp lqhplrsptk
     1141 finsfgnass iptvhtspql inttakvpvp ppvptvslts vikspatlla ktslvsaicp
     1201 snpplpssts vfhldppvkk llvspegail ntintpaskv sslspslsqi vvsasrspas
     1261 vfpafqssgl ekpdraas
//
LOCUS       XP_047299249             294 aa            linear   PRI 20-MAR-2023
DEFINITION  survival motor neuron protein isoform X2 [Homo sapiens].
ACCESSION   XP_047299249
VERSION     XP_047299249.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443293.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791777) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..294
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="unlocalized"
     Protein         1..294
                     /product="survival motor neuron protein isoform X2"
                     /calculated_mol_wt=31559
     Region          26..278
                     /region_name="SMN"
                     /note="Survival motor neuron protein (SMN); pfam06003"
                     /db_xref="CDD:428716"
     CDS             1..294
                     /gene="SMN1"
                     /coded_by="XM_047443293.1:70..954"
                     /db_xref="GeneID:6606"
                     /db_xref="HGNC:HGNC:11117"
                     /db_xref="MIM:600354"
ORIGIN      
        1 mamssggsgg gvpeqedsvl frrgtgqsdd sdiwddtali kaydkavasf khalkngdic
       61 etsgkpkttp krkpakknks qkkntaaslq qwkvgdkcsa iwsedgciyp atiasidfkr
      121 etcvvvytgy gnreeqnlsd llspicevan nieqnaqene nesqvstdes ensrspgnks
      181 dnikpksapw nsflpppppm pgprlgpgkp glkfngpppp pppppphlls cwlppfpsgp
      241 piipppppic pdslddadal gsmliswyms gyhtgyymtg fhcvsqdgln lltp
//
LOCUS       XP_054188303             826 aa            linear   PRI 20-MAR-2023
DEFINITION  voltage-dependent calcium channel subunit alpha-2/delta-4 isoform
            X4 [Homo sapiens].
ACCESSION   XP_054188303
VERSION     XP_054188303.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332328.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_018654718.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..826
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.33"
     Protein         1..826
                     /product="voltage-dependent calcium channel subunit
                     alpha-2/delta-4 isoform X4"
                     /calculated_mol_wt=93410
     CDS             1..826
                     /gene="CACNA2D4"
                     /gene_synonym="RCD4"
                     /coded_by="XM_054332328.1:180..2660"
                     /db_xref="GeneID:93589"
                     /db_xref="HGNC:HGNC:20202"
                     /db_xref="MIM:608171"
ORIGIN      
        1 mvcgcsallp lpnprptmpa tpnflanpss ssrwiplqpm pvawafvqkt sallwllllg
       61 tslspawgqa kipletvklw adtfggdlyn tvtkysgsll lqkkykdves slkieevdgl
      121 elvrkfsedm enmlrrkvea vqnlveaaee adlnhefnes lvfdyynsvl inerdekgnf
      181 velgaeflle snahfsnlpv ntsissvqlp tnvynkdpdi lngvymseal navfvenfqr
      241 dptltwqyfg satgffriyp gikwtpdeng vitfdcrnrg wyiqaatspk divilvdvsg
      301 smkglrmtia khtittildt lgendfinii ayndyvhyie pcfkgilvqa drdnrehfkl
      361 lveelmvkgv gvvdqalrea fqilkqfqea kqgslcnqai mlisdgaved yepvfekynw
      421 pdckvrvfty ligrevsfad rmkwiacnnk gyytqistla dtqenvmeyl hvlsrpmvin
      481 hdhdiiwtea ymdskllssq aqsltllttv ampvfskkne trshgillgv vgsdvalrel
      541 mklapryklg vhgyaflntn ngyilshpdl rplyregkkl kpkpnynsvd lsevewedqa
      601 eskrvlfltn dyfftdisdt pfslgvvlsr ghgeyillgn tsveeglhdl lhpdlalagd
      661 wiycitdidp dhrklsqlea mirfltrkdp dlecdeelvr evlfdavvta pmeaywtala
      721 lnmseesehv vdmaflgtra gllrsslfvg sekvsdrkfl tpedeasvft ldrfplwyrq
      781 asehpagsfv fnlrwaegpg rpsakglppp lcqtilkrrd gkmsws
//
LOCUS       XP_054189605            1037 aa            linear   PRI 20-MAR-2023
DEFINITION  NACHT, LRR and PYD domains-containing protein 7 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054189605
VERSION     XP_054189605.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333630.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187693.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1037
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..1037
                     /product="NACHT, LRR and PYD domains-containing protein 7
                     isoform X5"
                     /calculated_mol_wt=118173
     CDS             1..1037
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /coded_by="XM_054333630.1:325..3438"
                     /db_xref="GeneID:199713"
                     /db_xref="HGNC:HGNC:22947"
                     /db_xref="MIM:609661"
ORIGIN      
        1 mtspqlewtl qtlleqlned elksfksllw afpledvlqk tpwseveead gkklaeilvn
       61 tssenwirna tvnileemnl telckmakae mmedgqvqei dnpelgdaee dselakpgek
      121 egwrnsmekq slvwkntfwq gdidnfhddv tlrnqrfipf lnprtprklt pytvvlhgpa
      181 gvgkttlakk cmldwtdcnl sptlryafyl sckelsrmgp csfaeliskd wpelqddips
      241 ilaqaqrilf vvdgldelkv ppgaliqdic gdwekkkpvp vllgsllkrk mlpraallvt
      301 trpralrdlq llaqqpiyvr vegfleedrr ayflrhfgde dqamrafelm rsnaalfqlg
      361 sapavcwivc ttlklqmekg edpvptcltr tglflrflcs rfpqgaqlrg alrtlsllaa
      421 qglwaqmsvf hredlerlgv qesdlrlfld gdilrqdrvs kgcysfihls fqqfltalfy
      481 alekeegedr dghawdigdv qkllsgeerl knpdliqvgh flfglanekr akeleatfgc
      541 rmspdikqel lqckahlhan kplsvtdlke vlgclyesqe eelakvvvap fkeisihltn
      601 tsevmhcsfs lkhcqdlqkl slqvakgvfl enymdfeldi eferctylti pnwarqdlrs
      661 lrlwtdfcsl fssnsnlkfl evkqsflsds svrilcdhvt rstchlqkve iknvtpdtay
      721 rdfclafigk ktlthltlag hiewertmml mlcdllrnhk cnlqylrlgg hcatpeqwae
      781 ffyvlkanqs lkhlrlsanv lldegamlly ktmtrpkhfl qmlslencrl teasckdlaa
      841 vlvvskklth lclaknpigd tgvkflcegl sypdcklqtl vlqqcsitkl gcrylsealq
      901 eacsltnldl sinqiarglw ilcqalenpn cnlkhlrlws cslmpfycqh lgsallsnqk
      961 letldlgqnh lwksgiiklf gvlrqrtgsl kilrlktyet nleikkllee vkeknpklti
     1021 dcnasgatap pccdffc
//
LOCUS       XP_054190317             688 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF19B isoform X2 [Homo sapiens].
ACCESSION   XP_054190317
VERSION     XP_054190317.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334342.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..688
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..688
                     /product="E3 ubiquitin-protein ligase RNF19B isoform X2"
                     /calculated_mol_wt=73085
     CDS             1..688
                     /gene="RNF19B"
                     /gene_synonym="IBRDC3; NKLAM"
                     /coded_by="XM_054334342.1:125..2191"
                     /db_xref="GeneID:127544"
                     /db_xref="HGNC:HGNC:26886"
                     /db_xref="MIM:610872"
ORIGIN      
        1 mgsekdsesp rstslhaaap dpkcrsggrr rrltlhsvfs asargrrara kpqaeppppa
       61 appppapapa aaqgpppeal paepaaeaea eaaaaaaepg fddeeaaegg gpgaeevecp
      121 lclvrlpper aprllscphr scrdclrhyl rleisesrvp iscpecserl nphdirllla
      181 dpplmhkyee fmlrrylasd pdcrwcpapd cgyaviaygc ascpkltcer egcqtefcyh
      241 ckqiwhpnqt cdmarqqraq tlrvrtkhts glsygqesgp addikpcprc sayiikmndg
      301 scnhmtcavc gcefcwlcmk eisdlhylsp sgctfwgkkp wsrkkkilwq lgtligapvg
      361 isliagiaip amvigipvyv grkihsryeg rktskhkrnl aitggvtlsv iaspviaavs
      421 vgigvpimla yvygvvpisl crgggcgvst angkgvkief deddgpitva dawralknps
      481 igessieglt svlstsgspt dglsvmqgpy setasfaals ggtlsggils sgkgkysrec
      541 nnmeiqvdie akpshyqlvs gsstedslhv haqmaeneee gsggggseed ppcrhqsceq
      601 kdclaskpwd islaqpesir sdlessdaqs ddvpditsde cgsprshtaa cpstpraqga
      661 pspsahmnls alaegqtvlk peggearv
//
LOCUS       XP_054190458            1520 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-1(XVI) chain isoform X9 [Homo sapiens].
ACCESSION   XP_054190458
VERSION     XP_054190458.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334483.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1520
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1520
                     /product="collagen alpha-1(XVI) chain isoform X9"
                     /calculated_mol_wt=149611
     CDS             1..1520
                     /gene="COL16A1"
                     /gene_synonym="447AA; FP1572"
                     /coded_by="XM_054334483.1:216..4778"
                     /db_xref="GeneID:1307"
                     /db_xref="HGNC:HGNC:2193"
                     /db_xref="MIM:120326"
ORIGIN      
        1 mwvswapglw llglwatfgh gantgaqcpp sqqeglkleh ssslpanvtg fnlihrlslm
       61 kksaikkirn pkgplilrlg aapvtqptrr vfprglpeef alvltlllkk hthqktwylf
      121 qvtdangypq islevnsqer slelraqgqd gdfvscifpv pqlfdlrwhk lmlsvagrva
      181 svhvdcssas sqplgprrpm rpvghvflgl daeqgkpvsf dlqqvhiycd pelvleegcc
      241 eilpagcppe tskarrdtqs nelieinpqs egkvytrcfc leepqnsevd aqltgrisqk
      301 aergakvhqe taadecppcv hgardsnvtl apsgpkggkg erglpgppgs kgekgargnd
      361 cvrispdapl qcaegpkgek gesgalgpsg lpgstgekgq kgekgdggik gvpgkpgrdg
      421 rpgeicvigp kgqkgdpgfv gpeglagepg ppglpgppgi glpgtpgdpg gppgpkgdkg
      481 ssgipgkegp ggkpgkpgvk gekgdpcevc ptlpegfqnf vglpgkpgpk gepgdpvpar
      541 gepclscssv vgaqhlvsst gasgdvgspg fglpglpgra gvpglkgekg nfgeagpags
      601 pgppgpvgpa gikgakgepc epcpalsnlq dgdvrvvalp gpsgekgepg ppgfglpgkq
      661 gkagerglkg qkgdagnpgd pgtpgttgrp glsgepgvqg pagpkgekgq pglpgvqgpp
      721 glkgvqgepg ppgrgvqgpq gepgapglpg iqglpgprgp pgptgekgaq gspgvkgatg
      781 pvgppgasvs gppgrdgqqg qtglrgtpge kgprgekgep gecscpsqgd lifsgmpgpp
      841 gipgppgppg vpglqgvpgn nglpgqpglt aelgslpieq hllksicgdc vqgqrahpgy
      901 lvekgekgdq gipgvpgldn caqcflsler praeeargdn segdpgcvgs pglpgppglp
      961 gqrgeegppg mrgspgppgp iglqgerglt gltgdkgepg ppgqpgypga tgppglpgik
     1021 gergytgsag ekgepgppgs eglpgppgpa gprgergpqg nsgekgdqgf qgqpgfpgpp
     1081 gppgfpgkvg spgppgpqae kgsegirgps glpgspgppg ppgiqgpagl dgldgkdgkp
     1141 glrgdpgpag ppglmgppgf kgktghpglp gpkgdcgkpg ppgstgrpga egepgamgpq
     1201 grpgppghvg ppgppgqpgp agisavglkg drgatgergl aglpgqpgpp ghpgppgepg
     1261 tdgaagkegp pgkqgfygpp gpkgdpgaag qkgqagekgr agmpggpgks gsmgpvgppg
     1321 pagerghpga pgpsgspglp gvpgsmgdmv nydeikrfir qeiikmfder mayytsrmqf
     1381 pmemaaapgr pgppgkdgap grpgapgspg lpgqigregr qglpgvrglp gtkgekgdig
     1441 igiagenglp gppgpqgppg ygkmgatgpm gqqgipgipg ppgpmgqpgk aghcnpsdcf
     1501 gampmeqqyp pmktmkgpfg
//
LOCUS       XP_054224728             330 aa            linear   PRI 20-MAR-2023
DEFINITION  fatty acid desaturase 3 isoform X4 [Homo sapiens].
ACCESSION   XP_054224728
VERSION     XP_054224728.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368753.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..330
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..330
                     /product="fatty acid desaturase 3 isoform X4"
                     /calculated_mol_wt=38181
     CDS             1..330
                     /gene="FADS3"
                     /gene_synonym="CYB5RP; LLCDL3"
                     /coded_by="XM_054368753.1:179..1171"
                     /db_xref="GeneID:3995"
                     /db_xref="HGNC:HGNC:3576"
                     /db_xref="MIM:606150"
ORIGIN      
        1 mklfdasptf fafllghila mevlawlliy llgpgwvpsa laafilaisq aqswclqhdl
       61 ghasifkksw wnhvaqkfvm gqlkgfsahw wnfrhfqhha kpnifhkdpd vtvapvfllg
      121 essveygkkk rrylpynqqh lyffligppl ltlvnfeven laymlvcmqw adllwaasfy
      181 arfflsylpf ygvpgvllff vavrvleshw fvwitqmnhi pkeighekhr dwvssqlaat
      241 cnvepslftn wfsghlnfqi ehqcqhtlpt pslfprmprh nysrvaplvk slcakhglsy
      301 evkpfltalv divrslkksg diwldaylhq
//
LOCUS       XP_054227514             648 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and LEM domain-containing protein 2 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054227514
VERSION     XP_054227514.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371539.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..648
                     /product="ankyrin repeat and LEM domain-containing protein
                     2 isoform X3"
                     /calculated_mol_wt=72537
     CDS             1..648
                     /gene="ANKLE2"
                     /gene_synonym="KIAA0692; Lem4; LEMD7; MCPH16"
                     /coded_by="XM_054371539.1:35..1981"
                     /db_xref="GeneID:23141"
                     /db_xref="HGNC:HGNC:29101"
                     /db_xref="MIM:616062"
ORIGIN      
        1 mlwprlaaae waalawellg asvlliavrw lvrrlgprpg glgrsgtpvp ppsaaaapas
       61 gemtmdalla rlkllnpddl reeivkaglk cgpitsttrf ifekklaqal leqggrlssf
      121 yyheagvtal sqdpqrilkp aegnptdqag fsedrdfgys vglnppeeea vtsktcsvpp
      181 sdtdtyraga taskepplyy gvcpvyedvp arneriyvye nkkealqavk mikgsrfkaf
      241 stredaekfa rgicdyfpsp sktslplspv ktaplfsndr lkdglclses etvnkerans
      301 yknprtqdlt aklrkavekg eedtfsdliw snpryligsg dnptivqegc rynvmhvaak
      361 enqasicqlt ldvlenpdfm rlmypdddea mlqkriryvv dlylntpdkm gydtplhfac
      421 kfgnadvvnv lsshhlivkn srnkydktpe dvicersknk svelkerire ylkghyyvpl
      481 lraeetsspv igelwspdqt aeashvsryg gsprdpvltl rafagplspa kaedfrklwk
      541 tpprekagfl hhvkksdper gfervgrela helgypwvey weflgcfvdl ssqeglqrle
      601 eyltqqeigk kaqqetgere ascrdkatts vemrfhridq aglellts
//
LOCUS       XP_054228351             281 aa            linear   PRI 20-MAR-2023
DEFINITION  PCNA-interacting partner isoform X9 [Homo sapiens].
ACCESSION   XP_054228351
VERSION     XP_054228351.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372376.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..281
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..281
                     /product="PCNA-interacting partner isoform X9"
                     /calculated_mol_wt=31827
     CDS             1..281
                     /gene="PARPBP"
                     /gene_synonym="AROM; C12orf48; PARI"
                     /coded_by="XM_054372376.1:108..953"
                     /db_xref="GeneID:55010"
                     /db_xref="HGNC:HGNC:26074"
                     /db_xref="MIM:613687"
ORIGIN      
        1 mavfnqksvs dmikefrknw ralcnsertt lcgadsmlla lqlsmaennk qhsgeftvsl
       61 sdvlltwkyl lheklnlpve nmdvtdhyed vrkiyddflk nsnmldlidv yqkcraltsn
      121 cenyntvsps qlldflsgkq yavgdetdls iptsptskyn rdnekvqlla rkiifsylnl
      181 lvnskndlav ayilnipdrg lgreaftdlk haarekqmsi flvatsfirt ielggkgyap
      241 ppsdplrthv kglsnfinfi dkldeilgei pnprpvsewq p
//
LOCUS       XP_054234615             527 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 23 isoform X3 [Homo sapiens].
ACCESSION   XP_054234615
VERSION     XP_054234615.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378640.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..527
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..527
                     /product="tetratricopeptide repeat protein 23 isoform X3"
                     /calculated_mol_wt=58894
     CDS             1..527
                     /gene="TTC23"
                     /gene_synonym="HCC-8"
                     /coded_by="XM_054378640.1:554..2137"
                     /db_xref="GeneID:64927"
                     /db_xref="HGNC:HGNC:25730"
ORIGIN      
        1 mqesqethis nhldevvaav sithrkkfqn kllqtalfqp preklhlcee kaksysnshe
       61 ykqavhelvr cvaltricyg dshwklaeah vnlaqgylql kglslqakqh aekarqilan
      121 sivppysent dvfkfsielf htmgrallsl qkfkeaaenl tkaerlskel lqcgriikee
      181 wieiearirl sfaqvyqgqk kskealshyq aaleyveisk getsrecvpi lrelagveqa
      241 lglhdvsinh flqahliils rspsqveaad sahivahaav asgrhehhdv aeqyfqesma
      301 hlkdsegmgr tkflsiqdef chflqmtgqk eratsilres leakveafgd fspevaetyr
      361 llggadlaqg nhsgarkklk kaitratfkn rnwspssdps ehpnqrsvtr rhprsmlips
      421 qqglrmrssf shsretlvsf sqrhfhslmi aawcstvspd pdpliwtagq kdsghpaghg
      481 havhgpqgcf eakagiksqs gllhqhpsgh pagegparhn srlrppp
//
LOCUS       XP_054235060            4876 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase HERC1 isoform X22 [Homo
            sapiens].
ACCESSION   XP_054235060
VERSION     XP_054235060.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379085.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4876
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..4876
                     /product="probable E3 ubiquitin-protein ligase HERC1
                     isoform X22"
                     /calculated_mol_wt=533734
     CDS             1..4876
                     /gene="HERC1"
                     /gene_synonym="MDFPMR; p532; p619"
                     /coded_by="XM_054379085.1:190..14820"
                     /db_xref="GeneID:8925"
                     /db_xref="HGNC:HGNC:4867"
                     /db_xref="MIM:605109"
ORIGIN      
        1 matmippvkl kwlehlnssw itedsesiat regvavlysk lvsnkevvpl pqqvlclkgp
       61 qlpdferesl ssdeqdhyld allssqlala kmvcsdspfa galrkrllvl qrvfyalsnk
      121 yhdkgkvkqq qhspesssgs advhsvserp rsstdaliem gvrtglsllf allrqswmmp
      181 vsgpglslcn dvihtaievv sslpplslan eskippmgld clsqvttflk gvtipnsgad
      241 tlgrrlasel llglaaqrgs lryllewiem algasavvht mekgkllssq egmisfdcfm
      301 tilmqmrrsl gssadrsqwr eptrtsdglc slyeaalclf eevcrmasdy srtcaspdsi
      361 qtgdapivse tcevyvwgsn sshqlvegtq ekilqpklap sfsdaqtiea gqyctfvist
      421 dgsvracgkg sygrlglgds nnqstlkklt fephrsikkv ssskgsdght lafttegevf
      481 swgdgdygkl ghgnsstqky pkliqgplqg kvvvcvsagy rhsaavtedg elytwgegdf
      541 grlghgdsns rniptlvkdi snvgevscgs shtialskdg rtvwsfgggd ngklghgdtn
      601 rvykpkviea lqgmfirkvc agsqsslalt stgqvyawgc gaclgcgsse atalrpklie
      661 elaatrivdv sigdshclal shdnevyawg nnsmgqcgqg nstgpitkpk kvsgldgiai
      721 qqisagtshs lawtalprdr qvvawhrpyc vdleestfsh lrsflerycd kinseipplp
      781 fpssrehhsf lklclkllsn hlalalaggv atsilgrqag plrnllfrlm dstvpdeiqe
      841 vvietlsvga tmllpplrer mellhsllpq gpdrweslsk gqrmqldiil tslqdhthva
      901 sllgysspsd aadlssvctg ygnlsdqpyg tqschpdthl aeilmktllr nlgfytdqaf
      961 geleknsdkf llgtsssens qpahlhellc slqkqllafc hinnisenss svallhkhlq
     1021 lllphatdiy srsanllkes pwngsvgekl rdviyvsaag smlcqivnsl lllpvsvarp
     1081 llsylldllp pldclnrllp aadlledqel qwplhggpel idpaglplpq paqswvwlvd
     1141 lertiallig rclggmlqgs pvspeeqdta ywmktplfsd gvemdtpqld kcmsclleva
     1201 lsgneeqkpf dyklrpeiav yvdlalgcsk eparslwism qdyavskdwd satlsnesll
     1261 dtvsrfvlaa llkhtnllsq acgesryqpg khlsevyrcv ykvrsrllac knleliqtrs
     1321 ssrdrwisen qdsadvdpqe hsftrtidee aemeeqaerd reeghpeped eeeerehevm
     1381 tagnlvfvlh vteifqcfls arevarsrdr drmnsgagsg araddpppqs qqerrvstdl
     1441 pegqdvytaa cnsvihrcal lilgvspvid elqkrreegq lqqpstsase ggglmtrses
     1501 ltaesrlvht spnyrliksr sesdlsqpes deegyalsgr rnvdldlaas hrkrvylllf
     1561 gqlsprkkks fkqvhdgpmh sqleslsdsw arlkhsrdwl cnssysfesd fdltkslgvh
     1621 tlienvvsfv sgdvgnapgf kepeesmsts pqasiiameq qqlraelrle alhqilvlls
     1681 gmeekgsisl agsrlssgfq sstlltsvrl qfvagcfglg tvghtgakge sgrlhhyqdg
     1741 iraakrniqi eiqvavhkiy qqlsatlera lqankhhiea qqrlllvtvf alsvhyqpvd
     1801 vslaistgll nvlsqlcgtd tmlgqplqll pktgvsqlst alkvastrll qilaittgty
     1861 adklspkvvq slldllcsql knllsqtgvl hmasfgegeq edgeeeekkv dssgetekkd
     1921 fraalrkqha aelhlgdflv flrrvvsska iqskmaspkw tevllniasq kcssgiplvg
     1981 nlrtrllalh vleavlpace sgveddqmaq iverlfslls dcmwetpiaq akhaiqikek
     2041 eqeiklqqge leeedenlpi qevsfdpeka qcclvengqi lthgsggkgy glastgvtsg
     2101 cyqwkfyivk enrgnegtcv gvsrwpvhdf nhrttsdmwl yraysgnlyh ngeqtltlss
     2161 ftqgdfitcv ldmeartisf gkngeepkla fedvdaaely pcvmfyssnp gekvkicdmq
     2221 mrgtprdllp gdpicspvaa vlaeatiqlv rilhrtdrwt ycinkkmmer lhkikicike
     2281 sgqklkksrs vqsreenemr eekeskeeek gkhtrhglad lselqlrtlc ievwpvlavi
     2341 ggvdaglrvg grcvhkqtgr hatllgvvke gstsakvqwd eaeitisdtp lynlepcepl
     2401 pfdvarfrgl tasvlldlty ltgvhedmgk qstkrhekkh rheseekgdv eqkpesesal
     2461 dmrtgltsdd vksqsttssk seneiasfsl dptlpsvesq hqitegkrkn hehmsknhdv
     2521 aqseiravql sylylgamks lsallgcsky aelllipkvl aenghnsdca sspvvhedve
     2581 mraalqflmr hmvkravmrs pikralglad leraqamiyk lvvhglledq fggkikqeid
     2641 qqaeesdpaq qaqtpvttsp sassttsfms ssledtttat tpvtdtetvp asespgvmpl
     2701 sllrqmfssy ptttvlptrr aqtppisslp tspsdevgrr qsltspdsqs arpanrtals
     2761 dpssrlstsp pppaiavpll emgfslrqia kameatgarg eadaqnitvl amwmiehpgh
     2821 edeeepqsgs tadsrpgaav lgsggksndp cylqspgdip sadaaemeeg fsespdnldh
     2881 tenaasgsgp sargrsavtr rhkfdlaart llaraaglyr svqahrnqsr regislqqdp
     2941 galydfnlde eleidlddea meamfgqdlt sdndilgmwi pehvcesedr eevvvcelce
     3001 csvvsfnqhm krnhpgcgrs anrqgyrsng syvdgwfgge cgsgnpyyll cgtcrekyla
     3061 mktkskstss erykgqapdl igkqdsvyee dwdmldvded ekltgeeefe llagplglnd
     3121 rrivpepvqf pdsdplgasv amvtatnsme etlmqigchg sveksssgri tlgeqaaala
     3181 nphdrvvalr rvtaaaqvll artmvmrals llsvsgsscs laagleslgl tdirtlvrlm
     3241 claaagragl stspsamast sersrgghsk ankpisclay lstavgclas napsaakllv
     3301 qlctqnlisa atgvnlttvd dsiqrkflps flrgiaeenk lvtspnfvvt qalvalladk
     3361 gaklrpnydk sevekkgple lanalaaccl ssrlssqhrq waaqqlvrtl aahdrdnqtt
     3421 lqtladmggd lrkcsfikle ahqnrvmtcv wcnkkgllat sgndgtirvw nvtkkqyslq
     3481 qtcvfnrleg daeeslgsps dpsfspvsws isgkylagal ekmvniwqvn ggkglvdiqp
     3541 hwvsalawpe egpatawsge spelllvgrm dgslglievv dvstmhrrel ehcyrkdvsv
     3601 tciawfsedr pfavgyfdgk lllgtkeple kggivlidah kdtlismkwd ptghilmtca
     3661 kedsvklwgs isgcwcclhs lchpsivngi awcrlpgkgs klqllmatgc qsglvcvwri
     3721 pqdttqtnvt saegwwdqes ncqdgyrkss gakcvyqlrg hitpvrtvaf ssdglalvsg
     3781 glgglmniws lrdgsvlqtv vigsgaiqtt vwipevgvaa csnrskdvlv vnctaewaaa
     3841 nhvlatcrta lkqqgvlgln mapcmrafle rlpmmlqeqy ayekphvvcg dqlvhspymq
     3901 claslavglh ldqllcnppv pphhqnclpd paswnpnewa wlecfsttik aaealtngaq
     3961 fpesftvpdl epvpedelvf lmdnskwing mdeqimswat srpedwhlgg kcdvylwgag
     4021 rhgqlaeagr nvmvpaaaps fsqaqqvicg qnctfviqan gtvlacgegs ygrlgqgnsd
     4081 dlhvltvisa lqgfvvtqlv tscgsdghsm altesgevfs wgdgdygklg hgnsdrqrrp
     4141 rqiealqgee vvqmscgfkh savvtsdgkl ftfgngdygr lglgntsnkk lpervtaleg
     4201 yqigqvacgl nhtlavsadg smvwafgdgd ygklglgnst aksspqkidv lcgigikkva
     4261 cgtqfsvalt kdghvytfgq drliglpegr arnhnrpqqi pvlagviied vavgaehtla
     4321 lasngdvyaw gsnsegqlgl ghtnhvrept lvtglqgknv rqisagrchs aawtappvpp
     4381 rapgvsvplq lglpdtvppq ygalrevsih tvrarlrlly hfsdlmyssw rllnlspnnq
     4441 nstshynagt wgivqgqlrp llaprvytlp mvrsigktmv qgknygpqit vkristrgrk
     4501 ckpifvqiar qvvklnasdl rlpsrawkvk lvgegaddag gvfddtitem cqeletgivd
     4561 llipspnata evgynrdrfl fnpsacldeh lmqfkflgil mgvairtkkp ldlhlaplvw
     4621 kqlccvpltl edleevdlly vqtlnsilhi edsgiteesf hemipldsfv gqsadgkmvp
     4681 iipggnsipl tfsnrkeyve raieyrlhem drqvaavreg mswivpvpll slltakqleq
     4741 mvcgmpeisv evlkkvvryr evdeqhqlvq wfwhtleefs neervlfmrf vsgrsrlpan
     4801 tadisqrfqi mkvdrpydsl ptsqtcffql rlppyssqlv maerlryain ncrsidmdny
     4861 mlsrnvdnae gsdtdy
//
LOCUS       XP_054169925             503 aa            linear   PRI 20-MAR-2023
DEFINITION  SHC SH2 domain-binding protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054169925
VERSION     XP_054169925.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313950.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..503
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..503
                     /product="SHC SH2 domain-binding protein 1 isoform X1"
                     /calculated_mol_wt=56882
     CDS             1..503
                     /gene="SHCBP1"
                     /gene_synonym="PAL"
                     /coded_by="XM_054313950.1:21..1532"
                     /db_xref="GeneID:79801"
                     /db_xref="HGNC:HGNC:29547"
                     /db_xref="MIM:611027"
ORIGIN      
        1 madgsltggg leaaamaper tgwaveqela slekglfqde dscsdcsyrd kpgsslqsfm
       61 pegktffpei fqtnqllfye rfrayqdyil adckasevqe ftaeflekvl epsgwravwh
      121 tnvfkvlvei tdvdfaalka vvrlaepylc dsqvstftme cmkelldlke hrlplqelwv
      181 vfddsgvfdq talaiehvrf fyqniwrswd eeeedeydyf vrcveprlrl hydiledrvp
      241 sglivdyhnl lsqceesyrk flnlrsslsn cnsdseqeni smveglklys emeqlkqklk
      301 lienpllryv fgyqknsniq akgvrssgqk ithvvsstmm agllrslltd rlcqepgeee
      361 reiqfhsdpl sainacfegd tvivcpghyv vhgtfsiads ielegyglpd diviekrgkg
      421 dtfvdctgad ikisgikfvq hdavegiliv hrgkttlenc vlqcettgvt vrtsaeflmk
      481 nsdlygakpl nntvclssdv hgf
//
LOCUS       XP_054170851            1371 aa            linear   PRI 20-MAR-2023
DEFINITION  synergin gamma isoform X14 [Homo sapiens].
ACCESSION   XP_054170851
VERSION     XP_054170851.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314876.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1371
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1371
                     /product="synergin gamma isoform X14"
                     /calculated_mol_wt=146577
     CDS             1..1371
                     /gene="SYNRG"
                     /gene_synonym="AP1GBP1; SYNG"
                     /coded_by="XM_054314876.1:64..4179"
                     /db_xref="GeneID:11276"
                     /db_xref="HGNC:HGNC:557"
                     /db_xref="MIM:607291"
ORIGIN      
        1 malrpgagsg gggaagagag saggggfmfp vaggirppqa glmpmqqqgf pmvsvmqpnm
       61 qgimgmnyss qmsqgpiamq agipmgpmpa agmpylgqap flgmrppgpq ytpdmqkqfa
      121 eeqqkrfeqq qklleeerkr rqfeeqkqkl rllssvkpkt geksrddale aikgnldgfs
      181 rdakmhptpa shpkkpdcpt sshstktvsp spafldeeef sdfmqgpvev ppcgpsstsq
      241 pfqsfhpstp lgqlhtqkag tqplppsqsp vpfalhgvpg qipyfstasa shsvpeagps
      301 leekflvscd istsgqeqik lnasevghka lgpgsskkyp slmasngvav dgcvsgttta
      361 eaentsdqnl sieesgvgvf psqdpaqprm ppwiyneslv pdaykkilet tmtptgidta
      421 klypilmssg lpretlgqiw alanrttpgk ltkeelytvl amiavtqrgv pamspdalnq
      481 fpaapiptls gfsmtlptpv sqptvipsgp agsmplslgq pvmginlvgp vggaaaqass
      541 gfiptypanq vvkpeeddfq dfqdasksgs lddsfsdfqe lpassktsns qhgnsapsll
      601 mplpgtkalp smdkyavfkg iaadkssent vppgdpgdky safreleqta enkplgesfa
      661 efrsagtddg ftdfktadsv splepptkdk tfppsfpsgt iqqkqqtqvk nplnladldm
      721 fssvncssek plsfsavfst sksvstpqst gsaatmtala atktssladd fgefslfgey
      781 sglapvgeqd dfadfmafsn ssisseqkpd dkydalkeea spvpltsnvg stvkggqnst
      841 aastkydvfr qlslegsglg vedlkdntps gksdddfadf hsskfssins dkslgekava
      901 frhtkedsas vksldlpsig gssvgkedse dalsvqfdmk ladvggdlkh vmsdssldlp
      961 tvsgqhppaa gsgspsatsi lqkketsfgs senitmtsls kvttfvseda lpettfpala
     1021 sfkdtipqts eqkeyenrdy kdftkqdlpt aersqeatcp spassgasqe tpnecsddfg
     1081 efqsekpkis kfdflvatsq skmksseemi kselatfdls vqaleqpfrd rsntlnekpa
     1141 lpvirdkykd ltgeveener yayewqrclg salnvikkan dtlngissss vcteviqsaq
     1201 gmeyllgvve vyrvtkrvel gikatavcse klqqllkdid kvwnnligfm slatltccwe
     1261 kmtvitkhls pyhelleekp densldfssc mlrpgiknaq elacgvclln vdsrsrkeek
     1321 paeehpkkaf nsetdsfkla ygghqyhasc anfwincvep kppglvlpdl l
//
LOCUS       XP_054171299             884 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 112 kDa isoform X6 [Homo sapiens].
ACCESSION   XP_054171299
VERSION     XP_054171299.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315324.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..884
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..884
                     /product="centrosomal protein of 112 kDa isoform X6"
                     /calculated_mol_wt=104334
     CDS             1..884
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /coded_by="XM_054315324.1:146..2800"
                     /db_xref="GeneID:201134"
                     /db_xref="HGNC:HGNC:28514"
                     /db_xref="MIM:618980"
ORIGIN      
        1 mevgseeekw ekldaefdhf vvdmkpfvlk lphrterqrc alwirklcep sgtgagimgr
       61 knrnlyakll lhmlkrgale gpfthrpepg tlkilpsyms iyfdepnpar akgsspeglp
      121 awvlgelets ehklneswkl ssgedntlvq sptdvysreq ytgklrvrsh slspthredg
      181 qnitpkicev yskkspvsld dsdiearlns wnlgienpry lrqkpipvsl mtpkfslrks
      241 ssfhddhfls rirekeldmk tkmmeakfhe eklklqqkhd advqkilerk nneieelktl
      301 yrskqhetee tirklekkvq tlirdcqvir etkedqiael kkiceqstes lnndwekklh
      361 navaemeqek fdlqkqhten iqelledtnv rlnkmeseym aqtqstnhmi kelearvqql
      421 tgeaensnlq rqkliqekae lercyqitcs elqevkarrn tlhkekdhlv ndyeqnmkll
      481 qtkydadinl lkqehalsas kassmieele qnvcqlkqql qeselqrkqq lrdqenkfqm
      541 ekshlkhiye kkahdlqsel dkgkedtqkk ihkfeealke keeqltrvte vqrlqaqqad
      601 aaleefkrqv elnsekvyae mkeqmekvea dltrskslre kqskeflwql edirqryeqq
      661 ivelkleheq ekthllqqhn aekdslvrdh ereienlekq lraanmehen qiqefkkrda
      721 qviadmeaqv hklreelinv nsqrkqqlve lgllreeekq ratreheivv nklkaesekm
      781 kielkkthaa etemtlekvl qdelenrsnq vrcaekklqh kelesqeqit yirqeyetkl
      841 kglmpaslrq eledtisslk sqvnflqkra silqeeltty qgrr
//
LOCUS       XP_054171852            1236 aa            linear   PRI 20-MAR-2023
DEFINITION  glutamate receptor ionotropic, NMDA 2C isoform X6 [Homo sapiens].
ACCESSION   XP_054171852
VERSION     XP_054171852.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315877.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1236
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1236
                     /product="glutamate receptor ionotropic, NMDA 2C isoform
                     X6"
                     /calculated_mol_wt=134402
     CDS             1..1236
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /coded_by="XM_054315877.1:88..3798"
                     /db_xref="GeneID:2905"
                     /db_xref="HGNC:HGNC:4587"
                     /db_xref="MIM:138254"
ORIGIN      
        1 mggalgpall ltslfgawag lgpgqgeqgm tvavvfsssg ppqaqfrarl tpqsfldlpl
       61 eiqpltvgvn ttnpsslltq icgllgaahv hgivfednvd teavaqildf issqthvpil
      121 sisggsavvl tpkepgsafl qlgvsleqql qvlfkvleey dwsafavits lhpghalfle
      181 gvravadash vswrlldvvt lelgpggpra rtqrllrqld apvfvaycsr eeaevlfaea
      241 aqaglvgpgh vwlvpnlalg stdappatfp vglisvvtes wrlslrqkvr dgvailalga
      301 hsywrqhgtl papagdcrvh pgpvsparea fyrhllnvtw egrdfsfspg gylvqptmvv
      361 ialnrhrlwe mvgrwehgvl ymkypvwpry saslqpvvds rhltvatlee rpfvivespd
      421 pgtggcvpnt vpcrrqsnht fssgdvapyt klcckgfcid ilkklarvvk fsydlylvtn
      481 gkhgkrvrgv wngmigevyy kradmaigsl tineerseiv dfsvpfvetg isvmvarsng
      541 tvspsaflep yspavwvmmf vmcltvvait vfmfeyfspv synqnltrgk ksggpaftig
      601 ksvwllwalv fnnsvpienp rgttskimvl vwaffavifl asytanlaaf miqeqyidtv
      661 sglsdkkfqr pqdqyppfrf gtvpngster nirsnyrdmh thmvkfnqrs vedaltslkm
      721 gkldafiyda avlnymagkd egcklvtigs gkvfattgyg iamqkdshwk raidlallqf
      781 lgdgetqkle tvwlsgicqn eknevmsskl didnmagvfy mllvamglal lvfawehlvy
      841 wklrhsvpns sqldfllafs rgiyscfsgv qslaspprqa spdltassaq asvlkmlqaa
      901 rdmvttagvs ssldratrti enwgggrrap ppspcptprs gpspclptpd pppepsptgw
      961 gppdggraal vrrapqppgr pptpgpplsd vsrvsrrpaw earwpvrtgh cgrhlsaser
     1021 plsparchys sfpradrsgr pflplfpepp eledlpllgp eqlarreall haawargsrp
     1081 rhaslpssva eafarpsslp agctgpacar pdghsacrrl aqaqsmclpi yreacqegeq
     1141 agapawqhrq hvclhahahl pfcwgavcph lppcashgsw lsgawgplgh rgrtlglgtg
     1201 yrdsggldei srvargtqgf pgpctwrris slesev
//
LOCUS       XP_054177520             499 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 492 isoform X2 [Homo sapiens].
ACCESSION   XP_054177520
VERSION     XP_054177520.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321545.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..499
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..499
                     /product="zinc finger protein 492 isoform X2"
                     /calculated_mol_wt=57500
     CDS             1..499
                     /gene="ZNF492"
                     /gene_synonym="ZNF115"
                     /coded_by="XM_054321545.1:189..1688"
                     /db_xref="GeneID:57615"
                     /db_xref="HGNC:HGNC:23707"
                     /db_xref="MIM:620124"
ORIGIN      
        1 mlenyrnlvf vvvcsyfard lwpkqgkkny fqkvilrryk kcgcenlqlr kycksmdeck
       61 vhkecyngln qcltttqnki fqcdkyvkvf hkfsnsnrht irhtgkksfk ckeceksfcm
      121 lshlaqhkri hsgekpykck ecgkaynets nlsthkriht gkkpykceec gkafnrlshl
      181 tthkiihtgk kpykceecgk afnqsanltt hkrihtgekp ykceecgraf sqsstltahk
      241 iihagekpyk ceecgkafsq sstltthkii htgekfykce ecgkafsqls hltthkrihs
      301 gekpykceec gkafkqsstl tthkrihage kfykcevcsk afsrfshltt hkrihtgekp
      361 ykceecgkaf nlssqltthk iihtgekpyk ceecgkafnq sstlskhkvi htgekpykye
      421 ecgkafnqss hltthkmiht gekpykceec gkafnnssil nrhkmihtge klykpescnn
      481 acdniakisk ykrncagek
//
LOCUS       XP_054196104             472 aa            linear   PRI 20-MAR-2023
DEFINITION  calcitonin gene-related peptide type 1 receptor isoform X1 [Homo
            sapiens].
ACCESSION   XP_054196104
VERSION     XP_054196104.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340129.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..472
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..472
                     /product="calcitonin gene-related peptide type 1 receptor
                     isoform X1"
                     /calculated_mol_wt=54188
     CDS             1..472
                     /gene="CALCRL"
                     /gene_synonym="CGRPR; CRLR; LMPHM8"
                     /coded_by="XM_054340129.1:533..1951"
                     /db_xref="GeneID:10203"
                     /db_xref="HGNC:HGNC:16709"
                     /db_xref="MIM:114190"
ORIGIN      
        1 mlysifhfgl mmekkctlyf lvllpffmil vtaeleespe dsiqlgvtrn kimtaqyecy
       61 qkimqdpiqq aegvycnrtw dgwlcwndva agtesmqlcp dyfqdfdpse kvtkicdqdg
      121 nwfrhpasnr twtnytqcnv nthekvktal nlfyltiigh glsiasllis lgiffyfksl
      181 scqritlhkn lffsfvcnsv vtiihltava nnqalvatnp vsckvsqfih lylmgcnyfw
      241 mlcegiylht livvavfaek qhlmwyyflg wgfplipaci haiarslyyn dncwissdth
      301 llyiihgpic aallvnlffl lnivrvlitk lkvthqaesn lymkavratl ilvpllgief
      361 vlipwrpegk iaeevydyim hilmhfqgll vstifcffng evqailrrnw nqykiqfgns
      421 fsnsealrsa sytvstisdg pgyshdcpse hlngksihdi envllkpenl yn
//
LOCUS       XP_054199883             400 aa            linear   PRI 20-MAR-2023
DEFINITION  polypeptide N-acetylgalactosaminyltransferase 14 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054199883
VERSION     XP_054199883.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343908.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..400
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..400
                     /product="polypeptide N-acetylgalactosaminyltransferase 14
                     isoform X2"
                     /calculated_mol_wt=46314
     CDS             1..400
                     /gene="GALNT14"
                     /gene_synonym="GalNac-T10; GalNac-T14; GALNT15"
                     /coded_by="XM_054343908.1:110..1312"
                     /db_xref="GeneID:79623"
                     /db_xref="HGNC:HGNC:22946"
                     /db_xref="MIM:608225"
ORIGIN      
        1 maqdescpps dadwddlwdq fderrylnak kwrvgddpyk lyafnqrese rissnraipd
       61 trhlrctllv yctdlpptsi iitfhnears tllrtirsvl nrtpthlire iilvddfsnd
      121 pddckqlikl pkvkclrnne rqglvrsrir gadiaqgttl tfldshcevn rdwlqpllhr
      181 vkedytrvvc pvidiinldt ftyiesasel rggfdwslhf qweqlspeqk arrldptepi
      241 rtpiiagglf vidkawfdyl gkydmdmdiw ggenfeisfr vwmcggslei vpcsrvghvf
      301 rkkhpyvfpd gnantyiknt krtaevwmde ykqyyyaarp falerpfgky gpshtpsrss
      361 rrscacqssp cslapqwfls farmemtdsn gpklvptsst
//
LOCUS       XP_054200321             319 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-18 receptor accessory protein isoform X3 [Homo
            sapiens].
ACCESSION   XP_054200321
VERSION     XP_054200321.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344346.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..319
                     /product="interleukin-18 receptor accessory protein
                     isoform X3"
                     /calculated_mol_wt=36153
     CDS             1..319
                     /gene="IL18RAP"
                     /gene_synonym="ACPL; CD218b; CDw218b; IL-18R-beta;
                     IL-18RAcP; IL-18Rbeta; IL-1R-7; IL-1R7; IL-1RAcPL; IL18RB"
                     /coded_by="XM_054344346.1:1473..2432"
                     /db_xref="GeneID:8807"
                     /db_xref="HGNC:HGNC:5989"
                     /db_xref="MIM:604509"
ORIGIN      
        1 mlclgwiflw lvagerikgf nisgcstkkl lwtystrsee efvlfcdlpe pqkshfchrn
       61 rlspkqvpeh lpfmgsndls dvqwyqqpsn gdpledirks yphiiqdkct lhfltpgvnn
      121 sgsyicrpkm ikspydvacc vkmilevkpq tnasceysas hkqdlllgst gsiscpslsc
      181 qsdaqspavt wykngkllsv ersnrivvde vydyhqgtyv cdytqsdtvs swtvravvqv
      241 rtivgdtklk pdildpvedt levelgkplt isckarfgfe rvfnpvikwy ikdsdlewev
      301 svpeakrnsl twllskssy
//
LOCUS       XP_054200770             729 aa            linear   PRI 20-MAR-2023
DEFINITION  glycerol-3-phosphate acyltransferase 2, mitochondrial isoform X5
            [Homo sapiens].
ACCESSION   XP_054200770
VERSION     XP_054200770.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344795.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..729
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..729
                     /product="glycerol-3-phosphate acyltransferase 2,
                     mitochondrial isoform X5"
                     /calculated_mol_wt=79772
     CDS             1..729
                     /gene="LOC128966744"
                     /coded_by="XM_054344795.1:210..2399"
                     /db_xref="GeneID:128966744"
ORIGIN      
        1 matmlegrcq tqprsspsgr easlwssgfg mkleavtpfl gkyrpfvgrc cqtctpkswe
       61 slfhrsitdl gfcnvilvke entrfrgwlv rrlcyflwsl eqhippcqdv pqkimestgv
      121 qnllsgrvpg gtgegqvpdl vkkevqrilg hiqapprpfl vrlfswallr flnclflnvq
      181 lhkgqmkmvq kaaqaglplv llsthktlld gillpfmlls qglgvlrvaw dsracspalr
      241 allrklgglf lppeaslsld ssegllarav vqavieqllv sgqpllifle eppgalgprl
      301 salgqawvgf vvqavqvgiv pdallvpvav tydlvpdapc didhasaplg lwtgalavlr
      361 slwsrwgcsh ricsrvhlaq pfslqeyivs arscwggrqt leqllqpivl gqctavpdte
      421 keqewtpitg pllalkeedq llvrrlschv lsasvgssav mstaimatll lfkhqkgvfl
      481 sqllgefswl teeillrgfd vgfsgqlrsl lqhslsllra hvallrirqg dllvvpqpgp
      541 glthlaqlsa ellpvflsea vgacavrgll agrvppqgpw elqgilllsq nelyrqilll
      601 mhllpqdlll lkpcqssycy cqevldrliq cgllvaeetp gsrpacdtgr qrlsrkllwk
      661 psgdftdsds ddfgeadgry frswatqssc ssscrppprk kgssvspnqs aqapagsgvc
      721 wwllppagq
//
LOCUS       XP_054179352             320 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ALEX isoform X9 [Homo sapiens].
ACCESSION   XP_054179352
VERSION     XP_054179352.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323377.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..320
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..320
                     /product="protein ALEX isoform X9"
                     /calculated_mol_wt=37379
     CDS             1..320
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /coded_by="XM_054323377.1:121..1083"
                     /db_xref="GeneID:2778"
                     /db_xref="HGNC:HGNC:4392"
                     /db_xref="MIM:139320"
ORIGIN      
        1 msyhnlhagi arekatkvqd iknnlkeaie tivaamsnlv ppvelanpen qfrvdyilsv
       61 mnvpdfdfpp efyehakalw edegvracye rsneyqlidc aqyfldkidv ikqadyvpsd
      121 qdllrcrvlt sgifetkfqv dkvnfhmfdv ggqrderrkw iqcfndvtai ifvvasssyn
      181 mvirednqtn rlqealnlfk siwnnrwlrt isvilflnkq dllaekvlag kskiedyfpe
      241 faryttpeda tpepgedprv trakyfirde flristasgd grhycyphft cavdtenirr
      301 vfndcrdiiq rmhlrqyell
//
LOCUS       XP_054181684             353 aa            linear   PRI 20-MAR-2023
DEFINITION  lactosylceramide 4-alpha-galactosyltransferase isoform X1 [Homo
            sapiens].
ACCESSION   XP_054181684
VERSION     XP_054181684.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325709.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..353
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..353
                     /product="lactosylceramide 4-alpha-galactosyltransferase
                     isoform X1"
                     /calculated_mol_wt=40336
     CDS             1..353
                     /gene="A4GALT"
                     /gene_synonym="A14GALT; A4GALT1; Gb3S; P(k); P1; P1PK; PK"
                     /coded_by="XM_054325709.1:565..1626"
                     /db_xref="GeneID:53947"
                     /db_xref="HGNC:HGNC:18149"
                     /db_xref="MIM:607922"
ORIGIN      
        1 mskppdlllr llrgaprqrv ctlfiigfkf tffvsiviyw hvvgepkekg qlynlpaeip
       61 cptltpptpp shgptpgnif fletsdrtnp nflfmcsves aarthpeshv lvlmkglpgg
      121 naslprhlgi sllscfpnvq mlpldlrelf rdtpladwya avqgrwepyl lpvlsdasri
      181 almwkfggiy ldtdfivlkn lrnltnvlgt qsryvlngaf laferrhefm alcmrdfvdh
      241 yngwiwghqg pqlltrvfkk wcsirslaes racrgvttlp peafypipwq dwkkyfedin
      301 peelprllsa tyavhvwnkk sqgtrfeats rallaqlhar ycpttheamk myl
//
LOCUS       XP_054182157            1503 aa            linear   PRI 20-MAR-2023
DEFINITION  GATOR complex protein DEPDC5 isoform X4 [Homo sapiens].
ACCESSION   XP_054182157
VERSION     XP_054182157.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326182.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1503
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1503
                     /product="GATOR complex protein DEPDC5 isoform X4"
                     /calculated_mol_wt=170399
     CDS             1..1503
                     /gene="DEPDC5"
                     /gene_synonym="DEP.5; FFEVF; FFEVF1"
                     /coded_by="XM_054326182.1:208..4719"
                     /db_xref="GeneID:9681"
                     /db_xref="HGNC:HGNC:18423"
                     /db_xref="MIM:614191"
ORIGIN      
        1 mrttkvyklv ihkkgfggsd delvvnpkvf phiklgdive iahpndeysp lllqvkslke
       61 dlqketisvd qtvtqvfrlr pyqdvyvnvv dpkdvtldlv eltfkdqyig rgdmwrlkks
      121 lvstcayitq kvefagiraq agelwvknek vmcgyisedt rvvfrstsam vyifiqmsce
      181 mwdfdiygdl yfekavngfl adlftkwkek ncshevtvvl fsrtfydaks vdefpeinra
      241 sirqdhkgrf yedfykvvvq nerreewtsl lvtikklfiq ypvlvrleqa egfpqgdnst
      301 saqgnyleai nlsfnvfdkh yinrnfdrtg qmsvvitpgv gvfevdrllm iltkqrmidn
      361 gigvdlvcmg eqplhavplf klhnrsaprd srlgddynip hwinhsfyts ksqlfcnsft
      421 priklagkkp asekakngrd tslgspkese nalpiqvdyd aydaqvfrlp gpsraqcltt
      481 crsvreresh srksasscdv ssspslpsrt lpteevrsqa sddsslgksa nilmiphphl
      541 hqyevssslg ytstrdvlen mmeppqrdss apgrfhvgsa esmlhvrpgg ytpqralinp
      601 fapsrmpmkl tsnrrrwmht fpvgmnprtq nkdsledsvs tspdpiltls appvvpgfcc
      661 tvgvdwkslt tpaclplttd yfpdrqglqn dytegcydll peadidrrde dgvqmtaqqv
      721 feeficqrlm qgyqiivqpk tqkpnpavpp plsssplysr glvsrnrpee edqywlsmgr
      781 tfhkvtlkdk mitvtrylpk ypyesaqihy tyslcpshsd sefvscwvef sherleeykw
      841 nyldqyicsa gsedfslies lkfwrtrfll lpacvtatkr itegeahcdi ygdrpraded
      901 ewqlldgfvr fveglnrirr rhrsdrmmrk gtamkglqmt gpisthsles tappvgkkgt
      961 salsalleme asqkclgeqq aavhggkssa qsaesssvam tptymdsprk vsvdqtatpm
     1021 ldgtslgict gqsmdrgnsq tfgnsqnige qgysstnssd sssqqlvass ltssstltei
     1081 leamkhpstg vqllseqkgl spycfisaev vhwlvnhveg iqtqamaidi mqkmleeqli
     1141 thasgeawrt fiygfyfyki vtdkepdrva mqqpattwht agvddfasfq rkwfevafva
     1201 eelvhseipa fllpwlpsrp asyasrhssf srsfggrsqa aallaatvpe qrtvtldvdv
     1261 nnrtdrlewc scyyhgnfsl naafeiklhw mavtaavlfe mvqgwhrkat scgfllvpvl
     1321 egpfalpsyl ygdplraqlf iplniscllk egsehlfdsf epetywdrmh lfqeaiahrf
     1381 gfvqdkysas afnfpaenkp qyihvtgtvf lqlpyskrkf sgqqrrrrns tsstnqnmfc
     1441 eervgynway ntmltktwrs satgdekfad rllkdftdfc inrdnrlvtf wtsclekmha
     1501 sap
//
LOCUS       XP_054201337             104 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C3orf22 isoform X2 [Homo sapiens].
ACCESSION   XP_054201337
VERSION     XP_054201337.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345362.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..104
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..104
                     /product="uncharacterized protein C3orf22 isoform X2"
                     /calculated_mol_wt=11927
     CDS             1..104
                     /gene="C3orf22"
                     /coded_by="XM_054345362.1:347..661"
                     /db_xref="GeneID:152065"
                     /db_xref="HGNC:HGNC:28534"
ORIGIN      
        1 mdssackksh qskkwriqaq enfakkfpyr lswltepdpe plqpwevtnd sntvqlplqk
       61 rlvptrsipv rgvgvrikks mnvtsrtlsq mythtvprka grpr
//
LOCUS       XP_054201660             834 aa            linear   PRI 20-MAR-2023
DEFINITION  neuroligin-1 isoform X3 [Homo sapiens].
ACCESSION   XP_054201660
VERSION     XP_054201660.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345685.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..834
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..834
                     /product="neuroligin-1 isoform X3"
                     /calculated_mol_wt=93106
     CDS             1..834
                     /gene="NLGN1"
                     /gene_synonym="NL1"
                     /coded_by="XM_054345685.1:710..3214"
                     /db_xref="GeneID:22871"
                     /db_xref="HGNC:HGNC:14291"
                     /db_xref="MIM:600568"
ORIGIN      
        1 malprctwpn yvwravmacl vhrglgaplt lcmlgcllqa ghvlsqkldd vdplvatnfg
       61 kirgikkeln neilgpviqf lgvpyaappt gerrfqppep pspwsdirna tqfapvcpqn
      121 iidgrlpevm lpvwftnnld vvssyvqdqs edclylniyv ptedvkrisk ecarkpgkki
      181 crkgdirdsg gpkpvmvyih ggsymegtgn lydgsvlasy gnvivitvny rlgvlgflst
      241 gdqaakgnyg lldliqalrw tsenigffgg dplritvfgs gaggscvnll tlshyseglf
      301 qraiaqsgta lsswavsfqp akyarmlatk vgcnvsdtve lveclqkkpy kelvdqdiqp
      361 aryhiafgpv idgdvipddp qilmeqgefl nydimlgvnq geglkfveni vdsddgisas
      421 dfdfavsnfv dnlygypegk dvlretikfm ytdwadrhnp etrrktllal ftdhqwvapa
      481 vatadlhsnf gsptyfyafy hhcqtdqvpa wadaahgdev pyvlgipmig ptelfpcnfs
      541 kndvmlsavv mtywtnfakt gdpnqpvpqd tkfihtkpnr feevawtrys qkdqlylhig
      601 lkprvkehyr ankvnlwlel vphlhnlndi sqytstttkv pstditfrpt rknsvpvtsa
      661 fptakqddpk qqpspfsvdq rdystelsvt iavgasllfl nilafaalyy kkdkrrhdvh
      721 rrcspqrttt ndlthaqeee imslqmkhtd ldhecesihp hevvlrtacp pdytlamrrs
      781 pddvplmtpn titmipntip giqplhtfnt ftggqnntlp hphphphshs ttrv
//
LOCUS       XP_054210933            1077 aa            linear   PRI 20-MAR-2023
DEFINITION  disheveled-associated activator of morphogenesis 2 isoform X8 [Homo
            sapiens].
ACCESSION   XP_054210933
VERSION     XP_054210933.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354958.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1077
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1077
                     /product="disheveled-associated activator of morphogenesis
                     2 isoform X8"
                     /calculated_mol_wt=124380
     CDS             1..1077
                     /gene="DAAM2"
                     /gene_synonym="dJ90A20A.1; NPHS24"
                     /coded_by="XM_054354958.1:5021..8254"
                     /db_xref="GeneID:23500"
                     /db_xref="HGNC:HGNC:18143"
                     /db_xref="MIM:606627"
ORIGIN      
        1 maprkrshhg lgflccfggs dipeinlrdn hplqfmefss pipnaeelni rfaelvdeld
       61 ltdknreamf alppekkwqi ycskkkeqed pnklatswpd yyidrinsma amqslyafde
      121 eetemrnqvv edlktalrtq pmrfvtrfie legltcllnf lrsmdhatce srihtsligc
      181 ikalmnnsqg rahvlaqpea istiaqslrt ensktkvavl eilgavclvp gghkkvlqam
      241 lhyqvyaaer trfqtllnel drslgryrde vnlktaimsf inavlnagag ednlefrlhl
      301 ryeflmlgiq pvidklrqhe naildkhldf femvrneddl elarrfdmvh idtksasqmf
      361 elihkklkyt eaypcllsvl hhclqmpykr nggyfqqwql ldrilqqivl qdergvdpdl
      421 aplenfnvkn ivnmlinene vkqwrdqaek frkehmelvs rlerkerece tktlekeemm
      481 rtlnkmkdkl aresqelrqa rgqvaelvaq lselstgpvs sppppggplt lsssmttndl
      541 pppppplpfa ccpppppppl ppggpptppg appclgmglp lpqdpypssd vplrkkrvpq
      601 pshplksfnw vklneervpg tvwneiddmq vfrildledf ekmfsayqrh qelitnpsqq
      661 kelgstediy lasrkvkels vidgrraqnc iillsklkls neeirqailk mdeqedlakd
      721 mleqllkfip eksdidllee hkheiermar adrflyemsr idhyqqrlqa lffkkkfqer
      781 laeakpkvea illasrelvr skrlrqmlev ilaignfmnk gqrggaygfr vaslnkiadt
      841 kssidrnisl lhylimilek hfpdilnmps elqhlpeaak vnlaelekev gnlrrglrav
      901 eveleyqrrq vrepsdkfvp vmsdfitvss fsfseledql neardkfaka lmhfgehdsk
      961 mqpdeffgif dtflqafsea rqdleamrrr keeeerrarm eamlkeqrer erwqrqrkvl
     1021 aagssleegg efddlvsalr sgevfdkdlc klkrsrkrsg sqalevtrer ainrlny
//
LOCUS       XP_054211396            1816 aa            linear   PRI 20-MAR-2023
DEFINITION  laminin subunit alpha-4 isoform X2 [Homo sapiens].
ACCESSION   XP_054211396
VERSION     XP_054211396.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355421.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1816
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1816
                     /product="laminin subunit alpha-4 isoform X2"
                     /calculated_mol_wt=201694
     CDS             1..1816
                     /gene="LAMA4"
                     /gene_synonym="CMD1JJ; LAMA3; LAMA4*-1"
                     /coded_by="XM_054355421.1:299..5749"
                     /db_xref="GeneID:3910"
                     /db_xref="HGNC:HGNC:6484"
                     /db_xref="MIM:600133"
ORIGIN      
        1 malssawrsv lplwllwsaa csraasgddn afpfdiegss avgrqdppet seprvalgrl
       61 ppaaekcnag ffhtlsgecv pcdcngnsne cldgsgycvh cqrnttgehc ekcldgyigd
      121 sirgapqfcq pcpcplphla nfaescyrkn gavrcicnen yagpncerca pgyygnplli
      181 gstckkcdcs gnsdpnlife dcdevtgqcr nclrnttgfk cercapgyyg dariakncav
      241 cncgggpcds vtgecleegf epptgcdkcv wdltddlrla alsieegksg vlsvssgaaa
      301 hrhvneinat iyllktklse renqyalrki qinnaentmk sllsdveelv ekenqasrkg
      361 qlvqkesmdt inhasqlveq ahdmrdkiqe innkmlyyge ehelspkeis eklvlaqkml
      421 eeirsrqpff tqrelvdeea deayellsqa eswqrlhnet rtlfpvvleq lddynaklsd
      481 lqealdqaln hvrdaedmnr ataarqrdhe kqqervreqm evvnmslsts adslttprlt
      541 lselddiikn asgiyaeidg akselqvkls nlsnlshdlv qeaidhaqdl qqeanelsrk
      601 lhssdmnglv qkaldasnvy enivnyvsea netaefalnt tdriydavsg idtqiiyhkd
      661 esenllnqar elqakaesss deavadtsrr vggalarksa lktrlsdavk qlqaaergda
      721 qqrlgqsrli teeanrttme vqqatapman nltnwsqnlq hfdssaynta vnsardavrn
      781 ltevvpqlld qlrtveqkrp asnvsasiqr ireliaqtrs vaskiqvsmm fdgqsavevh
      841 srtsmddlka ftslslymkp pvkrpeltet adqfilylgs knakkeymgl aikndnlvyv
      901 ynlgtkdvei pldskpvssw payfsivkie rvgkhgkvfl tvpslsstae ekfikkgefs
      961 gddslldldp edtvfyvggv psnfklptsl nlpgfvgcle latlnndvis lynfkhiynm
     1021 dpstsvpcar dklaftqsra asyffdgsgy avvrditrrg kfgqvtrfdi evrtpadngl
     1081 illmvngsmf frlemrngyl hvfydfgfss gpvhledtlk kaqindakyh eisiiyhndk
     1141 kmilvvdrrh vksmdnekmk ipftdiyigg appeilqsra lrahlpldin frgcmkgfqf
     1201 qkkdfnlleq tetlgvgygc pedslisrra yfngqsfias iqkisffdgf eggfnfrtlq
     1261 pngllfyyas gsdvfsisld ngtvimdvkg ikvqsvdkqy ndglshfvis svsptryeli
     1321 vdksrvgskn ptkgkieqtq asekkfyfgg spisaqyanf tgcisnayft rvdrdveved
     1381 fqrytekvht slyecpiess plfllhkkgk nlskpkasqn kkggkskdap swdpvalklp
     1441 erntprnshc hlsnspraie hayqyggtan srqefehlkg dfgaksqfsi rlrtrsshgm
     1501 ifyvsdqeen dfmtlflahg rlvymfnvgh kklkirsqek yndglwhdvi firerssgrl
     1561 vidglrvlee slppteatwk ikgpiylggv apgkavknvq insiysfsgc lsnlqlngas
     1621 itsasqtfsv tpcfegpmet gtyfsteggy vvldesfnig lkfeiafevr prsssgtlvh
     1681 ghsvngeyln vhmkngqviv kvnngirdfs tsvtpkqslc dgrwhritvi rdsnvvqldv
     1741 dsevnhvvgp lnpkpidhre pvfvggvpes lltprlapsk pftgcirhfv idghpvsfsk
     1801 aalvsgavsi nscpaa
//
LOCUS       XP_054211559             278 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin-conjugating enzyme E2 J1 isoform X1 [Homo sapiens].
ACCESSION   XP_054211559
VERSION     XP_054211559.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355584.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..278
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..278
                     /product="ubiquitin-conjugating enzyme E2 J1 isoform X1"
                     /calculated_mol_wt=30898
     CDS             1..278
                     /gene="UBE2J1"
                     /gene_synonym="CGI-76; HSPC153; HSPC205; HSU93243;
                     NCUBE-1; NCUBE1; UBC6; UBC6E; Ubc6p"
                     /coded_by="XM_054355584.1:154..990"
                     /db_xref="GeneID:51465"
                     /db_xref="HGNC:HGNC:17598"
                     /db_xref="MIM:616175"
ORIGIN      
        1 metrynlksp avkrlmkeaa elkdptdhyh aqplednlfe whftvrgppd sdfdggvyhg
       61 rivlppeypm kppsiillta ngrfevgkki clsisghhpe twqpswsirt allaiigfmp
      121 tkgegaigsl dytpeerral akksqdfcce gcgsamkdvl lplksgsdss qadqeakela
      181 rqisfkygvq nssaasfhqp tqpvakntsm sprqrraqqq sqrrlstspd viqghqprdn
      241 htdhggsavl iviltlalaa lifrriylan eyifdfel
//
LOCUS       XP_054213585             583 aa            linear   PRI 20-MAR-2023
DEFINITION  semaphorin-3D isoform X1 [Homo sapiens].
ACCESSION   XP_054213585
VERSION     XP_054213585.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357610.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..583
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..583
                     /product="semaphorin-3D isoform X1"
                     /calculated_mol_wt=67468
     CDS             1..583
                     /gene="SEMA3D"
                     /gene_synonym="coll-2; Sema-Z2"
                     /coded_by="XM_054357610.1:458..2209"
                     /db_xref="GeneID:223117"
                     /db_xref="HGNC:HGNC:10726"
                     /db_xref="MIM:609907"
ORIGIN      
        1 mtdeylysgt asdflgkdta ftrslgpthd hhyirtdise hywlngakfi gtffipdtyn
       61 pdddkiyfff ressqegsts dktilsrvgr vckndvggqr slinkwttfl karlicsipg
      121 sdgadtyfde lqdiyllptr dernpvvygv ftttssifkg savcvysmad iravfngpya
      181 hkesadhrwv qydgripypr pgtcpsktyd plikstrdfp ddvisfikrh svmyksvypv
      241 aggptfkrin vdyrltqivv dhviaedgqy dvmflgtdig tvlkvvsisk ekwnmeevvl
      301 eelqifkhss iilnmelslk qqqlyigsrd glvqlslhrc dtygkacadc clardpycaw
      361 dgnacsryap tskrrarrqd vkygdpitqc wdiedsishe tadekvifgi efnstfleci
      421 pksqqatikw yiqrsgdehr eelkpderii kteygllirs lqkkdsgmyy ckaqehtfih
      481 tivkltlnvi eneqmentqr aeheegkvkd llaesrlryk dyiqilsspn fsldqyceqm
      541 whrekrrqrn kggpkwkhmq emkkkrnrrh hrdldelpra vat
//
LOCUS       XP_054214171             828 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ELFN1 isoform X1 [Homo sapiens].
ACCESSION   XP_054214171
VERSION     XP_054214171.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358196.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..828
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..828
                     /product="protein ELFN1 isoform X1"
                     /calculated_mol_wt=90346
     CDS             1..828
                     /gene="ELFN1"
                     /gene_synonym="PPP1R28"
                     /coded_by="XM_054358196.1:679..3165"
                     /db_xref="GeneID:392617"
                     /db_xref="HGNC:HGNC:33154"
                     /db_xref="MIM:614964"
ORIGIN      
        1 magrgwgalw vcvaaatllh agglaradcw liegdkgfvw laicsqnqpp yeaipqqins
       61 tivdlrlnen rirsvqyasl srfgnltyln ltkneigyie dgafsgqfnl qvlqlgynrl
      121 rnltegmlrg lgkleylylq anlievvmas sfwecpnivn idlsmnriqq lnsgtfagla
      181 klsvcelysn pfycscellg flrwlaaftn atqtydrmqc esppvysgyy llgqgrrghr
      241 silsklqsvc tedsyaaevv gpprpasgrs qpgrsppppp ppepsdmpca ddecfsgdgt
      301 tplvalptla tqaearplik vkqltqnsat itvqlpspfh rmytlehfnn skastvsrlt
      361 kaqeeirltn lftltnytyc vvstsaglrh nhtclticlp rlpsppgpvp spstathyim
      421 tilgclfgmv lvlgavyycl rrrrrqeekh kkaasaaaag slkktiielk ygpeleapgl
      481 aplsqgpllg peavtripyl paageveqyk lvesadtpka skgsymevrt gdpperrdce
      541 lgrpgpdsqs svaeistiak evdkvnqiin ncidalkses tsfqgvksgp vsvaepplvl
      601 lseplaakhg flapgykdaf ghslqrhhsv eaagpprast sssgsvrspr afraeavgvh
      661 kaaaaeakyi ekgspaadai ltvtpaaavl raeaekgrqy gehrhsypgs hpaeppappg
      721 pppppphegl grkasilepl trprprdlay sqlspqyhsl syssspeytc rasqsiwerf
      781 rlsrrrhkee eefmaaghal rkkvqfakde dlhdildywk gvsaqhks
//
LOCUS       XP_054215568             302 aa            linear   PRI 20-MAR-2023
DEFINITION  KH domain-containing, RNA-binding, signal transduction-associated
            protein 3 isoform X5 [Homo sapiens].
ACCESSION   XP_054215568
VERSION     XP_054215568.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359593.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..302
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..302
                     /product="KH domain-containing, RNA-binding, signal
                     transduction-associated protein 3 isoform X5"
                     /calculated_mol_wt=33670
     CDS             1..302
                     /gene="KHDRBS3"
                     /gene_synonym="Etle; etoile; SALP; SLM-2; SLM2; T-STAR;
                     TSTAR"
                     /coded_by="XM_054359593.1:412..1320"
                     /db_xref="GeneID:10656"
                     /db_xref="HGNC:HGNC:18117"
                     /db_xref="MIM:610421"
ORIGIN      
        1 meekylpelm aekdsldpsf thalrlvnqe iekfqkgegk deekyidvvi nknmklgqkv
       61 lipvkqfpkf nfvgkllgpr gnslkrlqee tltkmsilgk gsmrdkakee elrksgeaky
      121 fhlnddlhvl ievfappaea yarmghalee ikkflipdyn deirqaqlqe ltylnggsen
      181 advpvvrgkp tlrtrgvpap aitrgrggvt arpvgvvvpr gtptpravls trgpvsrgrg
      241 lltprargvp ptgyrppppp ptqetygeyd yddgygtayd eqsydsydns ystpaqrarr
      301 vd
//
LOCUS       XP_054217280             258 aa            linear   PRI 20-MAR-2023
DEFINITION  stathmin-4 isoform X1 [Homo sapiens].
ACCESSION   XP_054217280
VERSION     XP_054217280.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361305.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..258
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..258
                     /product="stathmin-4 isoform X1"
                     /calculated_mol_wt=30259
     CDS             1..258
                     /gene="STMN4"
                     /gene_synonym="RB3"
                     /coded_by="XM_054361305.1:133..909"
                     /db_xref="GeneID:81551"
                     /db_xref="HGNC:HGNC:16078"
ORIGIN      
        1 mtlaaykekm kelplvslfc scfladplnk ssykyegwcg rqcrrkdesq rkdsadwrer
       61 raqadtvdln wcvisdmevi elnkctsgqs fevilkppsf dgvpefnasl prrrdpslee
      121 iqkkleaaee rrkyqeaell khlaekrehe reviqkaiee nnnfikmake klaqkmesnk
      181 enreahlaam lerlqekvrg pwlersflgh avfllqqvcg dlliisgrkq pqakiriffl
      241 grifrefrrm irevrgkk
//
LOCUS       XP_054217982             432 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF38 isoform X6 [Homo sapiens].
ACCESSION   XP_054217982
VERSION     XP_054217982.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362007.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..432
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..432
                     /product="E3 ubiquitin-protein ligase RNF38 isoform X6"
                     /calculated_mol_wt=48431
     CDS             1..432
                     /gene="RNF38"
                     /coded_by="XM_054362007.1:167..1465"
                     /db_xref="GeneID:152006"
                     /db_xref="HGNC:HGNC:18052"
                     /db_xref="MIM:612488"
ORIGIN      
        1 mrpwemtsnr qppsvrpsqh hfsgercntp arnrrsppvr rqrgrrdrls rhnsisqden
       61 yhhlpyaqqq aieeprafhp pnvsprllhp aahppqqnav mvdihdqlhq gtvpvsytvt
      121 tvaphgiplc tgqhipacst qqvpgcsvvf sgqhlpvcsv pppmlqacsv qhlpvpyaaf
      181 pplissdpfl ihpphlsphh pphlpppgqf vpfqtqqsrs plqrieneve llgehlpvgg
      241 ftyppsahpp tlppsaplqf lthdplhqev sfgvpyppfm prrltgrsry rsqqpipppp
      301 yhpsllpyvl smlpvppavg ptfsfeldve dgevenyeal lnlaerlgea kprgltkadi
      361 eqlpsyrfnp nnhqseqtlc vvcmcdfesr qllrvlpcnh efhakcvdkw lkanrtcpic
      421 radasevhrd se
//
LOCUS       XP_054220191             509 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine deaminase isoform X1 [Homo sapiens].
ACCESSION   XP_054220191
VERSION     XP_054220191.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364216.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..509
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..509
                     /product="guanine deaminase isoform X1"
                     /calculated_mol_wt=56987
     CDS             1..509
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /coded_by="XM_054364216.1:121..1650"
                     /db_xref="GeneID:9615"
                     /db_xref="HGNC:HGNC:4212"
                     /db_xref="MIM:139260"
ORIGIN      
        1 mcaaqmppla hifrgtfvhs twtcpmevlr dhllgvsdsg kivfleeasq qeklakewcf
       61 kpceirelsh heffmpglvd thihasqysf agssidlpll ewltkytfpa ehrfqnidfa
      121 eevytrvvtl ellmsvlvkk tlffhkggnm eckqpsqghv annrqnrrtl kngtttacyf
      181 atihtdssll laditdkfgq rafvgkvcmd lndtfpeyke tteesikete rfvsemlqkn
      241 ysrvkpivtp rfslscsetl mgelgniakt rdlhiqshis enrdeveavk nlypsyknyt
      301 svydknnllt nktvmahgcy lsaeelnvfh ergasiahcp nsnlslssgf lnvlevlkhe
      361 vkiglgtdva ggysysmlda irravmvsni llinkvneks ltlkevfrla tlggsqalgl
      421 dgeignfevg kefdailinp kasdspidlf ygdffgdise aviqkflylg ddrnieevyv
      481 ggkqvvpfss svketihlpa ssphpppfp
//
LOCUS       NP_003961               1465 aa            linear   PRI 24-MAR-2023
DEFINITION  myomesin-2 [Homo sapiens].
ACCESSION   NP_003961
VERSION     NP_003961.3
DBSOURCE    REFSEQ: accession NM_003970.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1465)
  AUTHORS   Auxerre-Plantie E, Nielsen T, Grunert M, Olejniczak O, Perrot A,
            Ozcelik C, Harries D, Matinmehr F, Dos Remedios C, Muhlfeld C,
            Kraft T, Bodmer R, Vogler G and Sperling SR.
  TITLE     Identification of MYOM2 as a candidate gene in hypertrophic
            cardiomyopathy and Tetralogy of Fallot, and its functional
            evaluation in the Drosophila heart
  JOURNAL   Dis Model Mech 13 (12) (2020)
   PUBMED   33033063
  REMARK    GeneRIF: Identification of MYOM2 as a candidate gene in
            hypertrophic cardiomyopathy and Tetralogy of Fallot, and its
            functional evaluation in the Drosophila heart.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1465)
  AUTHORS   Cornelis MC, Fornage M, Foy M, Xun P, Gladyshev VN, Morris S,
            Chasman DI, Hu FB, Rimm EB, Kraft P, Jordan JM, Mozaffarian D and
            He K.
  TITLE     Genome-wide association study of selenium concentrations
  JOURNAL   Hum Mol Genet 24 (5), 1469-1477 (2015)
   PUBMED   25343990
REFERENCE   3  (residues 1 to 1465)
  AUTHORS   Cai DC, Fonteijn H, Guadalupe T, Zwiers M, Wittfeld K, Teumer A,
            Hoogman M, Arias-Vasquez A, Yang Y, Buitelaar J, Fernandez G,
            Brunner HG, van Bokhoven H, Franke B, Hegenscheid K, Homuth G,
            Fisher SE, Grabe HJ, Francks C and Hagoort P.
  TITLE     A genome-wide search for quantitative trait loci affecting the
            cortical surface area and thickness of Heschl's gyrus
  JOURNAL   Genes Brain Behav 13 (7), 675-685 (2014)
   PUBMED   25130324
REFERENCE   4  (residues 1 to 1465)
  AUTHORS   Flix B, de la Torre C, Castillo J, Casal C, Illa I and Gallardo E.
  TITLE     Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in
            human skeletal muscle
  JOURNAL   Int J Biochem Cell Biol 45 (8), 1927-1938 (2013)
   PUBMED   23792176
  REMARK    GeneRIF: a direct interaction of dysferlin with Trim72/MG53, AHNAK,
            cytoplasmic dynein, myomesin-2 and calsequestrin-1, but not with
            caveolin-3 or dystrophin, is reported.
REFERENCE   5  (residues 1 to 1465)
  AUTHORS   Blandin G, Marchand S, Charton K, Daniele N, Gicquel E, Boucheteil
            JB, Bentaib A, Barrault L, Stockholm D, Bartoli M and Richard I.
  TITLE     A human skeletal muscle interactome centered on proteins involved
            in muscular dystrophies: LGMD interactome
  JOURNAL   Skelet Muscle 3 (1), 3 (2013)
   PUBMED   23414517
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1465)
  AUTHORS   Zhao X, Leon IR, Bak S, Mogensen M, Wrzesinski K, Hojlund K and
            Jensen ON.
  TITLE     Phosphoproteome analysis of functional mitochondria isolated from
            resting human muscle reveals extensive phosphorylation of inner
            membrane protein complexes and enzymes
  JOURNAL   Mol Cell Proteomics 10 (1), M110.000299 (2011)
   PUBMED   20833797
REFERENCE   7  (residues 1 to 1465)
  AUTHORS   Hornemann T, Kempa S, Himmel M, Hayess K, Furst DO and Wallimann T.
  TITLE     Muscle-type creatine kinase interacts with central domains of the
            M-band proteins myomesin and M-protein
  JOURNAL   J Mol Biol 332 (4), 877-887 (2003)
   PUBMED   12972258
  REMARK    GeneRIF: Results identify muscle-type creatine kinase as a binding
            partner of a central portion of myomesin and the closely related
            M-protein.
REFERENCE   8  (residues 1 to 1465)
  AUTHORS   van der Ven PF, Speel EJ, Albrechts JC, Ramaekers FC, Hopman AH and
            Furst DO.
  TITLE     Assignment of the human gene for endosarcomeric cytoskeletal
            M-protein (MYOM2) to 8p23.3
  JOURNAL   Genomics 55 (2), 253-255 (1999)
   PUBMED   9933576
REFERENCE   9  (residues 1 to 1465)
  AUTHORS   Obermann WM, van der Ven PF, Steiner F, Weber K and Furst DO.
  TITLE     Mapping of a myosin-binding domain and a regulatory phosphorylation
            site in M-protein, a structural protein of the sarcomeric M band
  JOURNAL   Mol Biol Cell 9 (4), 829-840 (1998)
   PUBMED   9529381
REFERENCE   10 (residues 1 to 1465)
  AUTHORS   Vinkemeier U, Obermann W, Weber K and Furst DO.
  TITLE     The globular head domain of titin extends into the center of the
            sarcomeric M band. cDNA cloning, epitope mapping and immunoelectron
            microscopy of two titin-associated proteins
  JOURNAL   J Cell Sci 106 (Pt 1), 319-330 (1993)
   PUBMED   7505783
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL596730.1, BC052969.1, AC245164.2, DA233884.1, X69089.1,
            BX501741.1 and BP260135.1.
            On Apr 12, 2014 this sequence version replaced NP_003961.2.
            
            Summary: The giant protein titin, together with its associated
            proteins, interconnects the major structure of sarcomeres, the M
            bands and Z discs. The C-terminal end of the titin string extends
            into the M line, where it binds tightly to M-band constituents of
            apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2
            protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique
            N-terminal domain followed by 12 repeat domains with strong
            homology to either fibronectin type III or immunoglobulin C2
            domains. Protein sequence comparisons suggested that the MYOM2
            protein and bovine M protein are identical. [provided by RefSeq,
            Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC052969.1, SRR1803615.27162.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2151741
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262113.9/ ENSP00000262113.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1465
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.3"
     Protein         1..1465
                     /product="myomesin-2"
                     /note="titin-associated protein, 165 kD; M-band protein;
                     M-protein; myomesin family member 2; 165 kDa
                     titin-associated protein; 165 kDa connectin-associated
                     protein; myomesin (M-protein) 2, 165kDa"
                     /calculated_mol_wt=164739
     Region          38..61
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P54296.3)"
     Region          154..247
                     /region_name="IgI_titin_I1-like"
                     /note="Immunoglobulin domain I1 of the titin I-band and
                     similar proteins; a member of the I-set of IgSF domains;
                     cd20951"
                     /db_xref="CDD:409543"
     Region          154..156
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409543"
     Region          158..164
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409543"
     Region          171..178
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409543"
     Region          184..189
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409543"
     Region          191..194
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409543"
     Region          202..206
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409543"
     Region          211..218
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409543"
     Region          225..233
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409543"
     Region          236..247
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409543"
     Region          290..372
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          295..299
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          313..317
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          338..342
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          352..357
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          366..369
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          383..475
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(383,449,464)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(465..466,468..469)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          511..603
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(511,577,592)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(593..594,596..597)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          612..702
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(612,676,691)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(692..693,695..696)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          711..801
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(711,777,792)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(793..794,796..797)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          813..903
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(813,879,894)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(895..896,898..899)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          <940..995
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          965..969
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          979..984
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          992..995
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1233..1432
                     /region_name="PHA02826"
                     /note="IL-1 receptor-like protein; Provisional"
                     /db_xref="CDD:165173"
     Region          1344..1435
                     /region_name="IgI_M-protein_C"
                     /note="C-terminal immunoglobulin (Ig)-like domain of
                     M-protein; member of the I-set of Ig superfamily (IgSF)
                     domains; cd05891"
                     /db_xref="CDD:143299"
     Region          1344..1347
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:143299"
     Region          1352..1357
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:143299"
     Region          1361..1368
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:143299"
     Region          1375..1380
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:143299"
     Region          1383..1385
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:143299"
     Region          1390..1396
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:143299"
     Region          1400..1405
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:143299"
     Region          1415..1422
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:143299"
     Region          1425..1435
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:143299"
     Region          1442..1465
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P54296.3)"
     CDS             1..1465
                     /gene="MYOM2"
                     /gene_synonym="TTNAP"
                     /coded_by="NM_003970.4:136..4533"
                     /db_xref="CCDS:CCDS5957.1"
                     /db_xref="GeneID:9172"
                     /db_xref="HGNC:HGNC:7614"
                     /db_xref="MIM:603509"
ORIGIN      
        1 mslvtvpfyq krhrhfdqsy rniqtrylld eyaskkrast qassqkslsq rsssqrassq
       61 tslggticrv cakrvstqed eeqenrsryq slvaaygeak rqrflselah leedvhlars
      121 qardkldkya iqqmmedkla werhtfeeri srapeilvrl rshtvwerms vklcftvqgf
      181 ptpvvqwykd gslicqaaep gkyriesnyg vhtleinrad fddtatysav atnahgqvst
      241 naavvvrrfr gdeepfrsvg lpiglplssm ipythfdvqf lekfgvtfrr egetvtlkct
      301 mlvtpdlkrv qpraewyrdd vllkeskwtk mffgegqasl sfshlhkdde glytlrivsr
      361 ggvsdhsafl fvrdadplvt gapgapmdlq chdanrdyvi vtwkppnttt espvmgyfvd
      421 rcevgtnnwv qcndapvkic kypvtglfeg rsyifrvrav nsagisrpsr vsdavaaldp
      481 ldlrrlqavh legekeiaiy qddlegdaqv pgpptgvhas eisrnyvvls wepptprgkd
      541 plmyfieksv vgsgswqrvn aqtavrspry avfdlmegks yvfrvlsanr hglsepseit
      601 spiqaqdvtv vpsapgrvla srntktsvvv qwdrpkheed llgyyvdccv agtnlwepcn
      661 hkpigynrfv vhglttgeqy ifrvkavnav gmsensqesd vikvqaaltv pshpygitll
      721 ncdghsmtlg wkvpkfsggs pilgyyldkr evhhknwhev nsspskptil tvdgltegsl
      781 yefkiaavnl agigepsdps ehfkceawtm pepgpaydlt fcevrdtslv mlwkapvysg
      841 sspvsgyfvd freedagewi tvnqtttasr ylkvsdlqqg ktyvfrvrav nangvgkpsd
      901 tsepvlvear pgtkeisagv deqgniylgf dcqemtdasq ftwcksyeei sdderfkiet
      961 vgdhsklylk npdkedlgty svsvsdtdgv sssfvldpee lerlmalsne iknptiplks
     1021 elayeifdkg rvrfwlqaeh lspdasyrfi indrevsdse ihrikcdkat giiemvmdrf
     1081 sienegtytv qihdgkaksq sslvligdaf ktvleeaefq rkeflrkqgp hfaeylhwdv
     1141 teecevrlvc kvantkketv fkwlkddvly etetlpnler gicellipkl skkdhgeyka
     1201 tlkddrgqdv sileiagkvy ddmilamsrv cgksasplkv lctpegirlq cfmkyftdem
     1261 kvnwchkdak isssehmrig gseemawlqi ceptekdkgk ytfeifdgkd nhqrsldlsg
     1321 qafdeafaef qqfkaaafae knrgrliggl pdvvtimegk tlnltctvfg npdpeviwfk
     1381 ndqdiqlseh fsvkveqaky vsmtikgvts edsgkysini knkyggekid vtvsvykhge
     1441 kipdmappqq akpklipasa saagq
//
LOCUS       NP_005142                494 aa            linear   PRI 26-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 14 isoform a [Homo sapiens].
ACCESSION   NP_005142
VERSION     NP_005142.1
DBSOURCE    REFSEQ: accession NM_005151.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 494)
  AUTHORS   Kamoshita K, Ishii KA, Tahira Y, Kikuchi A, Abuduwaili H,
            Tajima-Shirasaki N, Li Q, Takayama H, Matsumoto K and Takamura T.
  TITLE     Insulin Suppresses Ubiquitination via the Deubiquitinating Enzyme
            Ubiquitin-Specific Protease 14, Independent of Proteasome Activity
            in H4IIEC3 Hepatocytes
  JOURNAL   J Pharmacol Exp Ther 385 (1), 5-16 (2023)
   PUBMED   36328485
  REMARK    GeneRIF: Insulin Suppresses Ubiquitination via the Deubiquitinating
            Enzyme Ubiquitin-Specific Protease 14, Independent of Proteasome
            Activity in H4IIEC3 Hepatocytes.
REFERENCE   2  (residues 1 to 494)
  AUTHORS   Du XH, Ke SB, Liang XY, Gao J, Xie XX, Qi LZ, Liu XY, Xu GY, Zhang
            XD, Du RL and Li SZ.
  TITLE     USP14 promotes colorectal cancer progression by targeting JNK for
            stabilization
  JOURNAL   Cell Death Dis 14 (1), 56 (2023)
   PUBMED   36693850
  REMARK    GeneRIF: USP14 promotes colorectal cancer progression by targeting
            JNK for stabilization.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 494)
  AUTHORS   Su Y, Zeng K, Liu S, Wu Y, Wang C, Wang S, Lin L, Zou R, Sun G,
            Luan R, Zhou B, Bai Y, Niu J, Zhang Y and Zhao Y.
  TITLE     Ubiquitin-specific peptidase 14 maintains estrogen receptor alpha
            stability via its deubiquitination activity in endometrial cancer
  JOURNAL   J Biol Chem 299 (1), 102734 (2023)
   PUBMED   36423684
  REMARK    GeneRIF: Ubiquitin-specific peptidase 14 maintains estrogen
            receptor alpha stability via its deubiquitination activity in
            endometrial cancer.
REFERENCE   4  (residues 1 to 494)
  AUTHORS   Liu Y, Xu J, Wang Y, Gan M, Hu Q, Wang J and Han T.
  TITLE     USP14 regulates cell cycle progression through deubiquitinating
            CDK1 in breast cancer
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 54 (11), 1610-1618 (2022)
   PUBMED   36604147
  REMARK    GeneRIF: USP14 regulates cell cycle progression through
            deubiquitinating CDK1 in breast cancer.
REFERENCE   5  (residues 1 to 494)
  AUTHORS   Hai B, Mao T, Du C, Jia F, Liu Y, Song Q, Pan X, Liu X and Zhu B.
  TITLE     USP14 promotes pyroptosis of human annulus fibrosus cells derived
            from patients with intervertebral disc degeneration through
            deubiquitination of NLRP3
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 54 (11), 1-11 (2022)
   PUBMED   36514221
  REMARK    GeneRIF: USP14 promotes pyroptosis of human annulus fibrosus cells
            derived from patients with intervertebral disc degeneration through
            deubiquitination of NLRP3.
REFERENCE   6  (residues 1 to 494)
  AUTHORS   Hu M, Li P, Song L, Jeffrey PD, Chenova TA, Wilkinson KD, Cohen RE
            and Shi Y.
  TITLE     Structure and mechanisms of the proteasome-associated
            deubiquitinating enzyme USP14
  JOURNAL   EMBO J 24 (21), 3747-3756 (2005)
   PUBMED   16211010
  REMARK    GeneRIF: the catalytic cleft leading to the active site of USP14 is
            blocked by two surface loops. Binding by ubiquitin induces a
            significant conformational change thereby allowing access of the
            ubiquitin C-terminus to the active site.
REFERENCE   7  (residues 1 to 494)
  AUTHORS   Dennehey BK, Gutches DG, McConkey EH and Krauter KS.
  TITLE     Inversion, duplication, and changes in gene context are associated
            with human chromosome 18 evolution
  JOURNAL   Genomics 83 (3), 493-501 (2004)
   PUBMED   14962675
REFERENCE   8  (residues 1 to 494)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
REFERENCE   9  (residues 1 to 494)
  AUTHORS   D'Andrea A and Pellman D.
  TITLE     Deubiquitinating enzymes: a new class of biological regulators
  JOURNAL   Crit Rev Biochem Mol Biol 33 (5), 337-352 (1998)
   PUBMED   9827704
  REMARK    Review article
REFERENCE   10 (residues 1 to 494)
  AUTHORS   Deshpande KL, Seubert PH, Tillman DM, Farkas WR and Katze JR.
  TITLE     Cloning and characterization of cDNA encoding the rabbit
            tRNA-guanine transglycosylase 60-kilodalton subunit
  JOURNAL   Arch Biochem Biophys 326 (1), 1-7 (1996)
   PUBMED   8579355
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC003556.1, CA438203.1,
            BU161860.1, AK098497.1 and AP000845.4.
            
            Summary: This gene encodes a member of the ubiquitin-specific
            processing (UBP) family of proteases that is a deubiquitinating
            enzyme (DUB) with His and Cys domains. This protein is located in
            the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused
            precursors and ubiquitinylated proteins. Mice with a mutation that
            results in reduced expression of the ortholog of this protein are
            retarded for growth, develop severe tremors by 2 to 3 weeks of age
            followed by hindlimb paralysis and death by 6 to 10 weeks of age.
            Alternate transcriptional splice variants, encoding different
            isoforms, have been characterized. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.225761.1,
                                           SRR1803613.242108.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261601.8/ ENSP00000261601.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..494
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.32"
     Protein         1..494
                     /product="ubiquitin carboxyl-terminal hydrolase 14 isoform
                     a"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin specific protease 14 (tRNA-guanine
                     transglycosylase); tRNA-guanine transglycosylase, 60-kD
                     subunit; ubiquitin carboxyl-terminal hydrolase 14;
                     ubiquitin thiolesterase 14; ubiquitin-specific processing
                     protease 14; deubiquitinating enzyme 14; ubiquitin
                     thioesterase 14; ubiquitin specific peptidase 14
                     (tRNA-guanine transglycosylase)"
                     /calculated_mol_wt=55938
     Region          4..76
                     /region_name="Ubl_USP14_like"
                     /note="ubiquitin-like (Ubl) domain found in ubiquitin
                     carboxyl-terminal hydrolase 14 (USP14) and similar
                     proteins; cd16104"
                     /db_xref="CDD:340521"
     Site            52
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54578.3)"
     Region          106..481
                     /region_name="Peptidase_C19A"
                     /note="A subfamily of Peptidase C19. Peptidase C19
                     contains ubiquitinyl hydrolases. They are intracellular
                     peptidases that remove ubiquitin molecules from
                     polyubiquinated peptides by cleavage of isopeptide bonds.
                     They hydrolyse bonds involving the carboxyl...; cd02657"
                     /db_xref="CDD:239122"
     Site            order(109,114,435,452)
                     /site_type="active"
                     /db_xref="CDD:239122"
     Site            143
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19367720,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P54578.3)"
     Site            148
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JMA1; propagated from
                     UniProtKB/Swiss-Prot (P54578.3)"
     Site            235
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P54578.3)"
     Site            237
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54578.3)"
     Site            302
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54578.3)"
     Site            432
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54578.3)"
     Site            449
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P54578.3)"
     CDS             1..494
                     /gene="USP14"
                     /gene_synonym="TGT; Ubp6"
                     /coded_by="NM_005151.4:143..1627"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS32780.1"
                     /db_xref="GeneID:9097"
                     /db_xref="HGNC:HGNC:12612"
                     /db_xref="MIM:607274"
ORIGIN      
        1 mplysvtvkw gkekfegvel ntdeppmvfk aqlfaltgvq parqkvmvkg gtlkdddwgn
       61 ikikngmtll mmgsadalpe epsaktvfve dmteeqlasa melpcgltnl gntcymnatv
      121 qcirsvpelk dalkryagal rasgemasaq yitaalrdlf dsmdktsssi ppiillqflh
      181 mafpqfaekg eqgqylqqda necwiqmmrv lqqkleaied dsvketdsss asaatpskkk
      241 slidqffgve fettmkctes eeeevtkgke nqlqlscfin qevkylftgl klrlqeeitk
      301 qsptlqrnal yiksskisrl payltiqmvr ffykekesvn akvlkdvkfp lmldmyelct
      361 pelqekmvsf rskfkdledk kvnqqpntsd kksspqkevk yepfsfaddi gsnncgyydl
      421 qavlthqgrs sssghyvswv krkqdewikf dddkvsivtp edilrlsggg dwhiayvlly
      481 gprrveimee eseq
//
LOCUS       NP_001138360             534 aa            linear   PRI 03-APR-2023
DEFINITION  brain-specific angiogenesis inhibitor 1-associated protein 2
            isoform 4 [Homo sapiens].
ACCESSION   NP_001138360
VERSION     NP_001138360.1
DBSOURCE    REFSEQ: accession NM_001144888.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 534)
  AUTHORS   Mukherjee A, Ron JE, Hu HT, Nishimura T, Hanawa-Suetsugu K, Behkam
            B, Mimori-Kiyosue Y, Gov NS, Suetsugu S and Nain AS.
  TITLE     Actin Filaments Couple the Protrusive Tips to the Nucleus through
            the I-BAR Domain Protein IRSp53 during the Migration of Cells on 1D
            Fibers
  JOURNAL   Adv Sci (Weinh) 10 (7), e2207368 (2023)
   PUBMED   36698307
  REMARK    GeneRIF: Actin Filaments Couple the Protrusive Tips to the Nucleus
            through the I-BAR Domain Protein IRSp53 during the Migration of
            Cells on 1D Fibers.
REFERENCE   2  (residues 1 to 534)
  AUTHORS   Salokas K, Liu X, Ohman T, Chowdhury I, Gawriyski L, Keskitalo S
            and Varjosalo M.
  TITLE     Physical and functional interactome atlas of human receptor
            tyrosine kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   3  (residues 1 to 534)
  AUTHORS   Kim Y, Yang E and Kim H.
  TITLE     Impaired prepulse inhibition in mice with IRSp53 deletion in
            modulatory neurotransmitter neurons including dopamine,
            acetylcholine, oxytocin, and serotonin
  JOURNAL   Biochem Biophys Res Commun 586, 114-120 (2022)
   PUBMED   34839189
  REMARK    GeneRIF: Impaired prepulse inhibition in mice with IRSp53 deletion
            in modulatory neurotransmitter neurons including dopamine,
            acetylcholine, oxytocin, and serotonin.
REFERENCE   4  (residues 1 to 534)
  AUTHORS   Lakshman Kumar P, Wilson AC, Rocco A, Cho MH, Wan E, Hobbs BD,
            Washko GR, Ortega VE, Christenson SA, Li X, Wells JM, Bhatt SP,
            DeMeo DL, Lutz SM, Rossiter H, Casaburi R, Rennard SI, Lomas DA,
            Labaki WW, Tal-Singer R, Bowler RP, Hersh CP, Tiwari HK, Dransfield
            M, Thalacker-Mercer A, Meyers DA, Silverman EK and McDonald MN.
  CONSRTM   COPDGene, ECLIPSE and SPIROMICS investigators
  TITLE     Genetic variation in genes regulating skeletal muscle regeneration
            and tissue remodelling associated with weight loss in chronic
            obstructive pulmonary disease
  JOURNAL   J Cachexia Sarcopenia Muscle 12 (6), 1803-1817 (2021)
   PUBMED   34523824
  REMARK    GeneRIF: Genetic variation in genes regulating skeletal muscle
            regeneration and tissue remodelling associated with weight loss in
            chronic obstructive pulmonary disease.
REFERENCE   5  (residues 1 to 534)
  AUTHORS   Liu F, Chen Y, Zhao S, Li M, Luo F and Tang CE.
  TITLE     Insulin Receptor Substrate p53 Ameliorates High-Glucose-Induced
            Activation of NF-kappaB and Impaired Mobility of HUVECs
  JOURNAL   Biomed Res Int 2021, 3210586 (2021)
   PUBMED   33506012
  REMARK    GeneRIF: Insulin Receptor Substrate p53 Ameliorates
            High-Glucose-Induced Activation of NF-kappaB and Impaired Mobility
            of HUVECs.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 534)
  AUTHORS   Miyahara A, Okamura-Oho Y, Miyashita T, Hoshika A and Yamada M.
  TITLE     Genomic structure and alternative splicing of the insulin receptor
            tyrosine kinase substrate of 53-kDa protein
  JOURNAL   J Hum Genet 48 (8), 410-414 (2003)
   PUBMED   12884081
REFERENCE   7  (residues 1 to 534)
  AUTHORS   Fujiwara T, Mammoto A, Kim Y and Takai Y.
  TITLE     Rho small G-protein-dependent binding of mDia to an Src homology 3
            domain-containing IRSp53/BAIAP2
  JOURNAL   Biochem Biophys Res Commun 271 (3), 626-629 (2000)
   PUBMED   10814512
REFERENCE   8  (residues 1 to 534)
  AUTHORS   Abbott MA, Wells DG and Fallon JR.
  TITLE     The insulin receptor tyrosine kinase substrate p58/53 and the
            insulin receptor are components of CNS synapses
  JOURNAL   J Neurosci 19 (17), 7300-7308 (1999)
   PUBMED   10460236
REFERENCE   9  (residues 1 to 534)
  AUTHORS   Okamura-Oho Y, Miyashita T, Ohmi K and Yamada M.
  TITLE     Dentatorubral-pallidoluysian atrophy protein interacts through a
            proline-rich region near polyglutamine with the SH3 domain of an
            insulin receptor tyrosine kinase substrate
  JOURNAL   Hum Mol Genet 8 (6), 947-957 (1999)
   PUBMED   10332026
REFERENCE   10 (residues 1 to 534)
  AUTHORS   Oda K, Shiratsuchi T, Nishimori H, Inazawa J, Yoshikawa H, Taketani
            Y, Nakamura Y and Tokino T.
  TITLE     Identification of BAIAP2 (BAI-associated protein 2), a novel human
            homologue of hamster IRSp53, whose SH3 domain interacts with the
            cytoplasmic domain of BAI1
  JOURNAL   Cytogenet Cell Genet 84 (1-2), 75-82 (1999)
   PUBMED   10343108
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB153324.1, BC002495.2 and
            AC115099.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene has been identified as a
            brain-specific angiogenesis inhibitor (BAI1)-binding protein. This
            adaptor protein links membrane bound G-proteins to cytoplasmic
            effector proteins. This protein functions as an insulin receptor
            tyrosine kinase substrate and suggests a role for insulin in the
            central nervous system. It also associates with a downstream
            effector of Rho small G proteins, which is associated with the
            formation of stress fibers and cytokinesis. This protein is
            involved in lamellipodia and filopodia formation in motile cells
            and may affect neuronal growth-cone guidance. This protein has also
            been identified as interacting with the
            dentatorubral-pallidoluysian atrophy gene, which is associated with
            an autosomal dominant neurodegenerative disease. Alternative
            splicing results in multiple transcript variants encoding distinct
            isoforms.[provided by RefSeq, Jan 2009].
            
            Transcript Variant: This variant (4) shares identical sequence with
            variants 1, 2 and 3, but diverges after amino acid 511 resulting in
            a distinct 23 amino acid sequence at the C-terminus. This
            transcript variant encodes isoform 4 and is alternatively referred
            to as variant M.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK225612.1, SRR7410570.636458.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000428708.7/ ENSP00000401022.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..534
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..534
                     /product="brain-specific angiogenesis inhibitor
                     1-associated protein 2 isoform 4"
                     /note="brain-specific angiogenesis inhibitor 1-associated
                     protein 2; insulin receptor substrate p53/p58; fas
                     ligand-associated factor 3; WASP and MIM like; IRS-58;
                     IRSp53/58; insulin receptor substrate protein of 53 kDa;
                     insulin receptor substrate of 53 kDa; BAI1 associated
                     protein 2"
                     /calculated_mol_wt=58883
     Region          5..236
                     /region_name="I-BAR_IMD_IRSp53"
                     /note="Inverse (I)-BAR, also known as the IRSp53/MIM
                     homology Domain (IMD), of Insulin Receptor tyrosine kinase
                     Substrate p53; cd07646"
                     /db_xref="CDD:153330"
     Site            order(5,9,12,15..16,23..24,27..28,31,34..35,37..38,41..42,
                     44..45,48..49,51..52,55..56,58..59,62..63,66..69,71..72,
                     75..76,79,86,97,101,176,180,183..184,187..188,190..192,
                     194..195,197..199,201..202,205..206,208..209,211..213,216,
                     219,223,226..227,229..230,232..233,235..236)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153330"
     Site            order(11,23,143)
                     /site_type="other"
                     /note="putative Rac binding residues [polypeptide
                     binding]"
                     /db_xref="CDD:153330"
     Site            order(108,130,147,171)
                     /site_type="other"
                     /note="putative membrane interaction site"
                     /db_xref="CDD:153330"
     Site            order(142,145,147)
                     /site_type="other"
                     /note="putative actin binding residues [polypeptide
                     binding]"
                     /db_xref="CDD:153330"
     Site            261
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Region          295..369
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            296
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            323
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            325
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            336
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            340
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            346
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            360
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            366
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Region          377..435
                     /region_name="SH3_Irsp53"
                     /note="Src Homology 3 domain of Insulin Receptor tyrosine
                     kinase Substrate p53; cd11915"
                     /db_xref="CDD:212848"
     Site            order(382..383,385,392..393,405..406,411..413,415,
                     425..426,428..431)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212848"
     Site            384
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            395
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BKX1; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Region          447..466
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UQB8.1)"
     Site            454
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB8.1)"
     CDS             1..534
                     /gene="BAIAP2"
                     /gene_synonym="BAP2; FLAF3; IRSP53; WAML"
                     /coded_by="NM_001144888.2:105..1709"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS45806.1"
                     /db_xref="GeneID:10458"
                     /db_xref="HGNC:HGNC:947"
                     /db_xref="MIM:605475"
ORIGIN      
        1 mslsrseemh rltenvykti meqfnpslrn fiamgknyek alagvtyaak gyfdalvkmg
       61 elasesqgsk elgdvlfqma evhrqiqnql eemlksfhne lltqleqkve ldsrylsaal
      121 kkyqteqrsk gdaldkcqae lkklrkksqg sknpqkysdk elqyidaisn kqgelenyvs
      181 dgyktaltee rrrfcflvek qcavaknsaa yhskgkella qklplwqqac adpskipera
      241 vqlmqqvasn gatlpsalsa sksnlvisdp ipgakplpvp pelapfvgrm saqestpimn
      301 gvtgpdgedy spwadrkaaq pkslsppqsq sklsdsysnt lpvrksvtpk nsyattenkt
      361 lprsssmaag lerngrmrvk aifshaagdn stllsfkegd litllvpear dgwhygesek
      421 tkmrgwfpfs ytrvldsdgs drlhmslqqg kssstgnlld kddlaipppd ygaasrafpa
      481 qtasgfkqrp ysvavpafsq glddygarsm srnpfahvql kptvtndrsa plls
//
LOCUS       NP_001341188             825 aa            linear   PRI 11-APR-2023
DEFINITION  histone-lysine N-methyltransferase EHMT1 isoform 3 [Homo sapiens].
ACCESSION   NP_001341188
VERSION     NP_001341188.1
DBSOURCE    REFSEQ: accession NM_001354259.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 825)
  AUTHORS   Nachiyappan A, Gupta N and Taneja R.
  TITLE     EHMT1/EHMT2 in EMT, cancer stemness and drug resistance: emerging
            evidence and mechanisms
  JOURNAL   FEBS J 289 (5), 1329-1351 (2022)
   PUBMED   34954891
  REMARK    GeneRIF: EHMT1/EHMT2 in EMT, cancer stemness and drug resistance:
            emerging evidence and mechanisms.
            Review article
REFERENCE   2  (residues 1 to 825)
  AUTHORS   Nachiyappan A, Soon JLJ, Lim HJ, Lee VK and Taneja R.
  TITLE     EHMT1 promotes tumor progression and maintains stemness by
            regulating ALDH1A1 expression in alveolar rhabdomyosarcoma
  JOURNAL   J Pathol 256 (3), 349-362 (2022)
   PUBMED   34897678
  REMARK    GeneRIF: EHMT1 promotes tumor progression and maintains stemness by
            regulating ALDH1A1 expression in alveolar rhabdomyosarcoma.
REFERENCE   3  (residues 1 to 825)
  AUTHORS   Sanchez NA, Kallweit LM, Trnka MJ, Clemmer CL and Al-Sady B.
  TITLE     Heterodimerization of H3K9 histone methyltransferases G9a and GLP
            activates methyl reading and writing capabilities
  JOURNAL   J Biol Chem 297 (5), 101276 (2021)
   PUBMED   34619147
  REMARK    GeneRIF: Heterodimerization of H3K9 histone methyltransferases G9a
            and GLP activates methyl reading and writing capabilities.
REFERENCE   4  (residues 1 to 825)
  AUTHORS   Zhang J, Gao K, Xie H, Wang D, Zhang P, Wei T, Yan Y, Pan Y, Ye W,
            Chen H, Shi Q, Li Y, Zhao SM, Hou X, Weroha SJ, Wang Y, Zhang J,
            Karnes RJ, He HH, Wang L, Wang C and Huang H.
  TITLE     SPOP mutation induces DNA methylation via stabilizing GLP/G9a
  JOURNAL   Nat Commun 12 (1), 5716 (2021)
   PUBMED   34588438
  REMARK    GeneRIF: SPOP mutation induces DNA methylation via stabilizing
            GLP/G9a.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 825)
  AUTHORS   Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee
            A, Genevieve D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC,
            Sistermans EA, de Vries BB and van Bokhoven H.
  TITLE     Loss-of-function mutations in euchromatin histone methyl
            transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
  JOURNAL   Am J Hum Genet 79 (2), 370-377 (2006)
   PUBMED   16826528
  REMARK    GeneRIF: Haploinsufficiency of EHMT1 is causative for 9q
            subtelomeric deletion syndrome.
REFERENCE   6  (residues 1 to 825)
  AUTHORS   Cebrian A, Pharoah PD, Ahmed S, Ropero S, Fraga MF, Smith PL,
            Conroy D, Luben R, Perkins B, Easton DF, Dunning AM, Esteller M and
            Ponder BA.
  TITLE     Genetic variants in epigenetic genes and breast cancer risk
  JOURNAL   Carcinogenesis 27 (8), 1661-1669 (2006)
   PUBMED   16501248
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 825)
  AUTHORS   Ueda J, Tachibana M, Ikura T and Shinkai Y.
  TITLE     Zinc finger protein Wiz links G9a/GLP histone methyltransferases to
            the co-repressor molecule CtBP
  JOURNAL   J Biol Chem 281 (29), 20120-20128 (2006)
   PUBMED   16702210
REFERENCE   8  (residues 1 to 825)
  AUTHORS   Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de
            Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns
            JP, Yntema HG, Brunner HG, de Vries BB and van Bokhoven H.
  TITLE     Disruption of the gene Euchromatin Histone Methyl Transferase1
            (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion
            syndrome
  JOURNAL   J Med Genet 42 (4), 299-306 (2005)
   PUBMED   15805155
  REMARK    GeneRIF: This indicates that haploinsufficiency of Eu-HMTase1 is
            responsible for the 9q submicroscopic subtelomeric deletion
            syndrome
REFERENCE   9  (residues 1 to 825)
  AUTHORS   Ogawa H, Ishiguro K, Gaubatz S, Livingston DM and Nakatani Y.
  TITLE     A complex with chromatin modifiers that occupies E2F- and
            Myc-responsive genes in G0 cells
  JOURNAL   Science 296 (5570), 1132-1136 (2002)
   PUBMED   12004135
REFERENCE   10 (residues 1 to 825)
  AUTHORS   Kleefstra,T. and de Leeuw,N.
  TITLE     Kleefstra Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20945554
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC047504.1, AK022941.1,
            AL590627.25 and AL611925.27.
            
            Summary: The protein encoded by this gene is a histone
            methyltransferase that methylates the lysine-9 position of histone
            H3. This action marks the genomic region packaged with these
            methylated histones for transcriptional repression. This protein
            may be involved in the silencing of MYC- and E2F-responsive genes
            and therefore could play a role in the G0/G1 cell cycle transition.
            Defects in this gene are a cause of chromosome 9q subtelomeric
            deletion syndrome (9q-syndrome, also known as Kleefstra syndrome).
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Aug 2017].
            
            Transcript Variant: This variant (3) lacks an exon in the 5' region
            and differs in the 3' exon structure compared to variant 1. It
            initiates translation at a downstream start codon. The encoded
            isoform (3) has a shorter N-terminus and distinct C-terminus
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK022941.1, SRR14038196.1505947.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..825
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     Protein         1..825
                     /product="histone-lysine N-methyltransferase EHMT1 isoform
                     3"
                     /EC_number="2.1.1.367"
                     /note="histone-lysine N-methyltransferase EHMT1;
                     histone-lysine N-methyltransferase, H3 lysine-9 specific
                     5; histone H3-K9 methyltransferase 5; euchromatic
                     histone-lysine N-methyltransferase 1; H3-K9-HMTase 5;
                     lysine N-methyltransferase 1D; G9a-like protein 1; EHMT1
                     intronic transcript 1"
                     /calculated_mol_wt=88571
     Region          483..613
                     /region_name="EHMT_ZBD"
                     /note="Zinc-binding domain of euchromatic histone lysine
                     methyltransferases EHMT1 and EHTM2; cd20905"
                     /db_xref="CDD:411018"
     Region          711..799
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Site            order(716..718,720..721,725,728,741,743,747..748,751..753,
                     755..756,760,763,772,774,776,780..781,784..786,788..789,
                     793,796)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          743..772
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          774..804
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..825
                     /gene="EHMT1"
                     /gene_synonym="EHMT1-IT1; Eu-HMTase1; EUHMTASE1; FP13812;
                     GLP; GLP1; KLEFS1; KMT1D"
                     /coded_by="NM_001354259.2:54..2531"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:79813"
                     /db_xref="HGNC:HGNC:24650"
                     /db_xref="MIM:607001"
ORIGIN      
        1 maadegsaek qageahmaad getngscens dasshanaak htqdsarvnp qdgtntltri
       61 aengvserds eaakqnhvta ddfvqtsvig sngyilnkpa lqaqplrtts tlasslpgha
      121 aktlpggagk grtpsafpqt paappatlge gsadtedrkl papgadvkvh rarktmpksv
      181 vglhaaskdp revreardhk epkeeinkni sdfgrqqllp pfpslhqslp qnqcymattk
      241 sqtaclpfvl aaavsrkkkr rmgtyslvpk kktkvlkqrt viemfksith stvgskgekd
      301 lgasslhvng eslemdsded dseeleeddg hgaeqaaafp tedsrtskes mseadraqkm
      361 dgeseeeqes vdtgeeeegg desdlssess ikkkflkrkg ktdspwikpa rkrrrrsrkk
      421 psgalgsesy kssagsaeqt apgdstgyme vsldsldlrv kgilssqaeg langpdvlet
      481 dglqevplcs crmetpksre ittlannqcm atesvdhelg rctnsvvkye lmrpsnkapl
      541 lvlcedhrgr mvkhqccpgc gyfctagnfm ecqpessish rfhkdcasrv nnasycphcg
      601 eesskakevt iakadttstv tpvpgqekgs alegradttt gsaagpplse ddklqgaash
      661 vpegfdptgp aglgrptpgl sqgpgketle salialdsek pkklrfhpkq lyfsarqgel
      721 qkvllmlvdg idpnfkmehq nkrsplhaaa eaghvdichm lvqaganidt csedqrtplm
      781 eaaennhlea vkylikagal vdpkiqktsk vytesqetqr sqtil
//
LOCUS       NP_001243802             530 aa            linear   PRI 01-JUL-2020
DEFINITION  ubiquitin carboxyl-terminal hydrolase 17-like protein 1 [Homo
            sapiens].
ACCESSION   NP_001243802 XP_006725126 XP_011544822
VERSION     NP_001243802.1
DBSOURCE    REFSEQ: accession NM_001256873.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 530)
  AUTHORS   de la Vega M, Kelvin AA, Dunican DJ, McFarlane C, Burrows JF,
            Jaworski J, Stevenson NJ, Dib K, Rappoport JZ, Scott CJ, Long A and
            Johnston JA.
  TITLE     The deubiquitinating enzyme USP17 is essential for GTPase
            subcellular localization and cell motility
  JOURNAL   Nat Commun 2, 259 (2011)
   PUBMED   21448158
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 530)
  AUTHORS   Ramakrishna S, Suresh B, Lee EJ, Lee HJ, Ahn WS and Baek KH.
  TITLE     Lys-63-specific deubiquitination of SDS3 by USP17 regulates HDAC
            activity
  JOURNAL   J. Biol. Chem. 286 (12), 10505-10514 (2011)
   PUBMED   21239494
REFERENCE   3  (residues 1 to 530)
  AUTHORS   Ramakrishna S, Suresh B, Kang IC and Baek KH.
  TITLE     Polyclonal and monoclonal antibodies specific for USP17, a
            proapoptotic deubiquitinating enzyme
  JOURNAL   Hybridoma (Larchmt) 29 (4), 311-319 (2010)
   PUBMED   20715989
REFERENCE   4  (residues 1 to 530)
  AUTHORS   Chen R, Zhang L, Zhong B, Tan B, Liu Y and Shu HB.
  TITLE     The ubiquitin-specific protease 17 is involved in virus-triggered
            type I IFN signaling
  JOURNAL   Cell Res. 20 (7), 802-811 (2010)
   PUBMED   20368735
REFERENCE   5  (residues 1 to 530)
  AUTHORS   Burrows JF, Scott CJ and Johnston JA.
  TITLE     The DUB/USP17 deubiquitinating enzymes: a gene family within a
            tandemly repeated sequence, is also embedded within the copy number
            variable beta-defensin cluster
  JOURNAL   BMC Genomics 11, 250 (2010)
   PUBMED   20403174
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 530)
  AUTHORS   McFarlane C, Kelvin AA, de la Vega M, Govender U, Scott CJ, Burrows
            JF and Johnston JA.
  TITLE     The deubiquitinating enzyme USP17 is highly expressed in tumor
            biopsies, is cell cycle regulated, and is required for G1-S
            progression
  JOURNAL   Cancer Res. 70 (8), 3329-3339 (2010)
   PUBMED   20388806
REFERENCE   7  (residues 1 to 530)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat. Rev. Genet. 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
REFERENCE   8  (residues 1 to 530)
  AUTHORS   Okada T, Gondo Y, Goto J, Kanazawa I, Hadano S and Ikeda JE.
  TITLE     Unstable transmission of the RS447 human megasatellite tandem
            repetitive sequence that contains the USP17 deubiquitinating enzyme
            gene
  JOURNAL   Hum. Genet. 110 (4), 302-313 (2002)
   PUBMED   11941478
REFERENCE   9  (residues 1 to 530)
  AUTHORS   Saitoh Y, Miyamoto N, Okada T, Gondo Y, Showguchi-Miyata J, Hadano
            S and Ikeda JE.
  TITLE     The RS447 human megasatellite tandem repetitive sequence encodes a
            novel deubiquitinating enzyme with a functional promoter
  JOURNAL   Genomics 67 (3), 291-300 (2000)
   PUBMED   10936051
REFERENCE   10 (residues 1 to 530)
  AUTHORS   Gondo Y, Okada T, Matsuyama N, Saitoh Y, Yanagisawa Y and Ikeda JE.
  TITLE     Human megasatellite DNA RS447: copy-number polymorphisms and
            interspecies conservation
  JOURNAL   Genomics 54 (1), 39-49 (1998)
   PUBMED   9806828
COMMENT     INFERRED REFSEQ: This record is predicted by genome sequence
            analysis and is not yet supported by experimental evidence. The
            reference sequence was derived from AF228730.8.
            On or before Mar 22, 2015 this sequence version replaced
            XP_011544822.1, XP_006725126.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            CCDS Note: This CCDS representation lacks full-length human
            transcript support. Its representation is therefore inferred, but
            it is supported by paralogous transcripts.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000529559.1/ ENSP00000485364.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..530
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     Protein         1..530
                     /product="ubiquitin carboxyl-terminal hydrolase 17-like
                     protein 1"
                     /note="ubiquitin thioesterase 17-like protein 1;
                     deubiquitinating enzyme 17-like protein 1;
                     ubiquitin-specific-processing protease 17-like protein 1;
                     putative ubiquitin carboxyl-terminal hydrolase 17-like
                     protein 1"
                     /calculated_mol_wt=59459
     Region          79..373
                     /region_name="Peptidase_C19E"
                     /note="A subfamily of Peptidase C19. Peptidase C19
                     contains ubiquitinyl hydrolases. They are intracellular
                     peptidases that remove ubiquitin molecules from
                     polyubiquinated peptides by cleavage of isopeptide bonds.
                     They hydrolyze bonds involving the carboxyl...; cd02661"
                     /db_xref="CDD:239126"
     Site            order(84,89,334,351)
                     /site_type="active"
                     /db_xref="CDD:239126"
     Region          <417..454
                     /region_name="HABP4_PAI-RBP1"
                     /note="Hyaluronan / mRNA binding family; pfam04774"
                     /db_xref="CDD:428114"
     CDS             1..530
                     /gene="USP17L1"
                     /gene_synonym="USP17L1P"
                     /coded_by="NM_001256873.1:1..1593"
                     /db_xref="CCDS:CCDS78298.1"
                     /db_xref="GeneID:401447"
                     /db_xref="HGNC:HGNC:37182"
ORIGIN      
        1 mgddslylgg ewqfnhfskl tssrpdaafa eiqrtslpek splssetrvd lcddlapvar
       61 qlapreklpl ssrrpaavga glqnmgntcy enaslqclty tlplanymls rehsqtcqrp
      121 kccmlctmqa hitwalhspg hviqpsqala agfhrgkqed vheflmftvd amkkaclpgh
      181 kqvdhhckdt tlihqifggc wrsqikclhc hgisdtfdpy ldialdiqaa qsvkqaleql
      241 vkpeelngen ayhcglclqr apasntltlh tsakvlilvl krfsdvagnk laknvqypec
      301 ldmqpymsqq ntgplvyvly avlvhagwsc hdghyfsyvk aqevqwykmd daevtvcsii
      361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rrakqgelkr dhpclqapel
      421 dehlveratq estldhwkfl qeqnktkpef nvgkvegtlp pnalvihqsk ykcgmknhhp
      481 eqqssllnls sttrtdqesm ntgtlaslqg rtrrakgknk hskrallvcq
//
LOCUS       NP_899243               1977 aa            linear   PRI 02-JUN-2022
DEFINITION  echinoderm microtubule-associated protein-like 5 isoform 1 [Homo
            sapiens].
ACCESSION   NP_899243 XP_290624
VERSION     NP_899243.1
DBSOURCE    REFSEQ: accession NM_183387.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1977)
  AUTHORS   O'Connor V, Houtman SH, De Zeeuw CI, Bliss TV and French PJ.
  TITLE     Eml5, a novel WD40 domain protein expressed in rat brain
  JOURNAL   Gene 336 (1), 127-137 (2004)
   PUBMED   15225882
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL121768.4, BC150639.1, BC032685.1, BC042055.1 and AL162171.4.
            On Dec 18, 2003 this sequence version replaced XP_290624.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC150639.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000554922.6/ ENSP00000451998.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1977
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q31.3"
     Protein         1..1977
                     /product="echinoderm microtubule-associated protein-like 5
                     isoform 1"
                     /note="echinoderm microtubule associated protein like 5"
                     /calculated_mol_wt=220137
     Region          <3..49
                     /region_name="HELP"
                     /note="HELP motif; pfam03451"
                     /db_xref="CDD:427302"
     Region          57..353
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          59..100
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Site            order(60,78,82,90..91,104..105,123,127,135..136,148..149,
                     167,177..178,193,212,217,223,234,236,252,256,262..263,
                     281..282,297,302,306..307,322..323,342,346,352..353)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          64..104
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          104..145
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          110..148
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          148..187
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          153..201
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          195..233
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          203..233
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          228..592
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          235..273
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Site            order(236,252,256,262..263,280..281,298,302,309..310,
                     322..323,341,346,352..353,382,387,393..394,406..407,425,
                     429,435..436,449..450,534,539,545..546,561..562,580,585,
                     591..592)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          240..273
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          280..321
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          286..321
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          323..362
                     /region_name="WD 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          328..352
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          369..401
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          406..445
                     /region_name="WD 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          411..451
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          449..488
                     /region_name="WD 9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          521..564
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          561..601
                     /region_name="WD 10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          609..633
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          <669..715
                     /region_name="HELP"
                     /note="HELP motif; pfam03451"
                     /db_xref="CDD:427302"
     Region          725..1063
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          725..766
                     /region_name="WD 11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Site            order(726,744,750,756..757,769..770,789,793,801..802,
                     814..815,834,839,843..844,862,879,884,890,901..902,918,
                     922,928..929,995..996,1014,1019,1025..1026,1038..1039,
                     1057,1061)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          730..769
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          770..811
                     /region_name="WD 12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          776..814
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          814..853
                     /region_name="WD 13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          819..861
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          861..900
                     /region_name="WD 14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          895..1140
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          901..940
                     /region_name="WD 15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          907..939
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          941..994
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          996..1035
                     /region_name="WD 16"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          1002..1037
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1038..1077
                     /region_name="WD 17"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          1043..1078
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1080..1120
                     /region_name="WD 18"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          1085..1122
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1193..1235
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1236..1276
                     /region_name="WD 19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          1274..1297
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          <1363..1410
                     /region_name="HELP"
                     /note="HELP motif; pfam03451"
                     /db_xref="CDD:427302"
     Region          1406..1814
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          1420..1471
                     /region_name="WD 20"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          1426..1475
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1475..1516
                     /region_name="WD 21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          1480..1518
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1519..1558
                     /region_name="WD 22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          1524..1567
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1568..1606
                     /region_name="WD 23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          1573..1608
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1608..1654
                     /region_name="WD 24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          1613..1698
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1697..1970
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          1699..1739
                     /region_name="WD 25"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          1705..1743
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1741..1782
                     /region_name="WD 26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          1783..1822
                     /region_name="WD 27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          1788..1821
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1834..1892
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1895..1934
                     /region_name="WD 28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     Region          1900..1939
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1940..1977
                     /region_name="WD 29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05BV3.3)"
     CDS             1..1977
                     /gene="EML5"
                     /gene_synonym="EMAP-2; EMAP-5; FAP16"
                     /coded_by="NM_183387.3:451..6384"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS45148.1"
                     /db_xref="GeneID:161436"
                     /db_xref="HGNC:HGNC:18197"
                     /db_xref="MIM:618119"
ORIGIN      
        1 maarsapsch lrlewvygyr ghqcrnnlyy taakeivyfv agvgvvyspr ehrqkfyrgh
       61 sddiislalh pervlvatgq vgkepyiciw dsytvqtisv lkdvhthgia clafdldgqr
      121 lvsvgldskn avcvwdwkrg kmlsmapght drifdiswdl yqpnklvscg vkhikfwslc
      181 gnaltpkrgv fgktgdlqti lclacardel tysgalngdi yvwkginlir tiqgahaagi
      241 fsmnaceegf atggrdgcir lwdltfkpit vidlretdqg ykglsvrsvc wrgdhilvgt
      301 qdseifeivv qernkpflim qghcegelwa lavhptkpla vtgsddrsvr iwslvdhali
      361 arcnmeepir caavnadgih lalgmkdgsf tvlrvrdmte vvhikdrkea ihelkyspdg
      421 tylavgcnds svdiygvaqr ykkvgeclgs lsfithldws sdsrylqtnd gngkrlfyrm
      481 pggkevtste eikgvhwasw tcvsglevng iwpkysdind insvdgnyig qvlvtaddyg
      541 iiklfrypcl rkgakfrkyi ghsahvtnvr wshdyqwvis iggadhsvfq wkfiperklk
      601 davhiapqes ladshsdesd sdlsdvpeld seieqetqlt yrrqvykedl pqlkeqckek
      661 qksatskrre rapgnsirlh fvhgyrgydc rsnlfytqig eivyhvaavg viynrqqntq
      721 rfylghdddi lcltihplkd yvatgqvgrd psihiwdtet ikplsilkgh hqygvsavdf
      781 sadgkrlasv giddshtvvl wdwkkgekls iargskdkif vvkmnpyvpd klitagikhm
      841 kfwrkagggl igrkgyigtl gkndtmmcav ygwteemafs gtstgdvciw rdiflvktvk
      901 ahdgpvfsmh alekgfvtgg kdgivalwdd sferclktya ikraalapgs kglllednps
      961 iraislghgh ilvgtkngei levdksgpit llvqghmege vwglathpyl picatvsddk
     1021 tlriwdlsps hcmlavrklk kggrcccfsp dgkalavgln dgsflmanad tledlvsfhh
     1081 rkdmisdirf spgsgkylav ashdsfidiy nvmsskrvgi ckgatsyith idwdirgkll
     1141 qvntgakeql ffeaprgkkq tipsveveki awaswtsvlg lccegiwpvi gevtdvtasc
     1201 ltsdkmvlat gddlgfvklf ryptkgkfgk fkryvahsth vtnvrwtydd smlvtlggtd
     1261 mslmvwtnem egyrekrpcd seesdidsee dggydsdvtr eneisytira lstnirpmlg
     1321 ikphlqqkep siderqgvvr gsrppvsrap pqpeklqtnn vgkkkrpied lvlelifgyr
     1381 grdcrnnvhy lndgddiiyh tasvgilhnv atgsqsfyqe hnddilcltv nqhpkfiniv
     1441 atgqvgdsad msatapsihi wdamnkqtls ilrcyhskgv csvsfsatgk lllsvgldpe
     1501 htitiwrwqe gakiasragh nqrifvaefr pdsdtqfvsv gvkhvkfwtl agrallskkg
     1561 llstledarm qtmlaiafga nnltftgtis gdvcvwkdhi lcrivarahn gpvfamyttl
     1621 rdglivtggk erpskeggav klwdqelrrc rafrletgqa tdcvrsvcrg kgkilvgtrn
     1681 aeiievgekn aacnilvngh vdgpiwglat hpsrdfflsa aedgtvrlwd iadkkmlnkv
     1741 nlghaartvc yspegdmvai gmkngefiil lvsslkiwgk krdrrcaihd irfspdsryl
     1801 avgssensvd fydltlgptl nrisyckdip sfviqmdfsa dssylqvssg cykrhvyevp
     1861 sgkhlmdhaa idritwatwt silgdevlgi wsrhaekadv ncacvshsgi slvtgddfgm
     1921 vklfdfpcpe kfakhkrflg hsphvtnirf tsgdrhvvsa ggddcslfvw kcvhtph
//
LOCUS       NP_001146                673 aa            linear   PRI 18-DEC-2022
DEFINITION  annexin A6 isoform 1 [Homo sapiens].
ACCESSION   NP_001146
VERSION     NP_001146.2
DBSOURCE    REFSEQ: accession NM_001155.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 673)
  AUTHORS   Komissarov A, Sergeeva M, Zhuravlev E, Medvedev S, Malakhova A,
            Andreeva E, Shurygina AP, Gorshkov A, Timofeeva M, Balakhonova E,
            Grudinin M, Zakian S, Richter V and Stepanov G.
  TITLE     CRISPR-Cas9 mediated knockout of AnxA6 gene enhances influenza A
            virus replication in low-permissive HEK293FT cell line
  JOURNAL   Gene 809, 146024 (2022)
   PUBMED   34673207
  REMARK    GeneRIF: CRISPR-Cas9 mediated knockout of AnxA6 gene enhances
            influenza A virus replication in low-permissive HEK293FT cell line.
REFERENCE   2  (residues 1 to 673)
  AUTHORS   Jose J, Hoque M, Engel J, Beevi SS, Wahba M, Georgieva MI, Murphy
            KJ, Hughes WE, Cochran BJ, Lu A, Tebar F, Hoy AJ, Timpson P, Rye
            KA, Enrich C, Rentero C and Grewal T.
  TITLE     Annexin A6 and NPC1 regulate LDL-inducible cell migration and
            distribution of focal adhesions
  JOURNAL   Sci Rep 12 (1), 596 (2022)
   PUBMED   35022465
  REMARK    GeneRIF: Annexin A6 and NPC1 regulate LDL-inducible cell migration
            and distribution of focal adhesions.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 673)
  AUTHORS   Bozycki L, Mroczek J, Bessueille L, Mebarek S, Buchet R, Pikula S
            and Strzelecka-Kiliszek A.
  TITLE     Annexins A2, A6 and Fetuin-A Affect the Process of Mineralization
            in Vesicles Derived from Human Osteoblastic hFOB 1.19 and
            Osteosarcoma Saos-2 Cells
  JOURNAL   Int J Mol Sci 22 (8), 3993 (2021)
   PUBMED   33924370
  REMARK    GeneRIF: Annexins A2, A6 and Fetuin-A Affect the Process of
            Mineralization in Vesicles Derived from Human Osteoblastic hFOB
            1.19 and Osteosarcoma Saos-2 Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 673)
  AUTHORS   Fan Z, Zhang Z, Huang Q, Han L, Fang X, Yang K, Wu S, Zheng Z,
            Yawalkar N, Wang Z and Yan K.
  TITLE     The Impact of ANxA6 Gene Polymorphism on the Efficacy of
            Methotrexate Treatment in Psoriasis Patients
  JOURNAL   Dermatology 237 (4), 579-587 (2021)
   PUBMED   33582672
  REMARK    GeneRIF: The Impact of ANxA6 Gene Polymorphism on the Efficacy of
            Methotrexate Treatment in Psoriasis Patients.
REFERENCE   5  (residues 1 to 673)
  AUTHORS   Korolkova OY, Widatalla SE, Williams SD, Whalen DS, Beasley HK,
            Ochieng J, Grewal T and Sakwe AM.
  TITLE     Diverse Roles of Annexin A6 in Triple-Negative Breast Cancer
            Diagnosis, Prognosis and EGFR-Targeted Therapies
  JOURNAL   Cells 9 (8), 1855 (2020)
   PUBMED   32784650
  REMARK    GeneRIF: Diverse Roles of Annexin A6 in Triple-Negative Breast
            Cancer Diagnosis, Prognosis and EGFR-Targeted Therapies.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 673)
  AUTHORS   Moss SE, Jacob SM, Davies AA and Crumpton MJ.
  TITLE     A growth-dependent post-translational modification of annexin VI
  JOURNAL   Biochim Biophys Acta 1160 (1), 120-126 (1992)
   PUBMED   1420329
REFERENCE   7  (residues 1 to 673)
  AUTHORS   Barel M, Gauffre A, Lyamani F, Fiandino A, Hermann J and Frade R.
  TITLE     Intracellular interaction of EBV/C3d receptor (CR2) with p68, a
            calcium-binding protein present in normal but not in transformed B
            lymphocytes
  JOURNAL   J Immunol 147 (4), 1286-1291 (1991)
   PUBMED   1831222
REFERENCE   8  (residues 1 to 673)
  AUTHORS   Blackwood RA and Ernst JD.
  TITLE     Characterization of Ca2(+)-dependent phospholipid binding, vesicle
            aggregation and membrane fusion by annexins
  JOURNAL   Biochem J 266 (1), 195-200 (1990)
   PUBMED   2138016
REFERENCE   9  (residues 1 to 673)
  AUTHORS   Yoshizaki H, Mizoguchi T, Arai K, Shiratsuchi M, Shidara Y and Maki
            M.
  TITLE     Structure and properties of calphobindin II, an anticoagulant
            protein from human placenta
  JOURNAL   J Biochem 107 (1), 43-50 (1990)
   PUBMED   2139657
REFERENCE   10 (residues 1 to 673)
  AUTHORS   Iwasaki A, Suda M, Watanabe M, Nakao H, Hattori Y, Nagoya T, Saino
            Y, Shidara Y and Maki M.
  TITLE     Structure and expression of cDNA for calphobindin II, a human
            placental coagulation inhibitor
  JOURNAL   J Biochem 106 (1), 43-49 (1989)
   PUBMED   2528541
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC411634.1, BC017046.1,
            AI566871.1 and AC008641.7.
            On Aug 3, 2005 this sequence version replaced NP_001146.1.
            
            Summary: Annexin VI belongs to a family of calcium-dependent
            membrane and phospholipid binding proteins. Several members of the
            annexin family have been implicated in membrane-related events
            along exocytotic and endocytotic pathways. The annexin VI gene is
            approximately 60 kbp long and contains 26 exons. It encodes a
            protein of about 68 kDa that consists of eight 68-amino acid
            repeats separated by linking sequences of variable lengths. It is
            highly similar to human annexins I and II sequences, each of which
            contain four such repeats. Annexin VI has been implicated in
            mediating the endosome aggregation and vesicle fusion in secreting
            epithelia during exocytosis. Alternatively spliced transcript
            variants have been described. [provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.179629.1, HM005611.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354546.10/ ENSP00000346550.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..673
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.1"
     Protein         1..673
                     /product="annexin A6 isoform 1"
                     /note="annexin VI (p68); calcium-binding protein p68;
                     calphobindin II; calelectrin; annexin-6; lipocortin VI;
                     chromobindin-20; 67 kDa calelectrin; testis secretory
                     sperm-binding protein Li 198a"
                     /calculated_mol_wt=75742
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P08133.3)"
     Site            13
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08133.3)"
     Region          20..91
                     /region_name="Annexin 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
                     /note="propagated from UniProtKB/Swiss-Prot (P08133.3)"
     Region          24..89
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08133.3)"
     Site            63
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P08133.3)"
     Site            68
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P08133.3)"
     Site            75
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P08133.3)"
     Site            81
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P08133.3)"
     Region          92..163
                     /region_name="Annexin 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
                     /note="propagated from UniProtKB/Swiss-Prot (P08133.3)"
     Region          97..161
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     Region          175..247
                     /region_name="Annexin 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
                     /note="propagated from UniProtKB/Swiss-Prot (P08133.3)"
     Region          179..245
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     Site            201
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P14824; propagated from
                     UniProtKB/Swiss-Prot (P08133.3)"
     Region          251..322
                     /region_name="Annexin 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
                     /note="propagated from UniProtKB/Swiss-Prot (P08133.3)"
     Region          255..320
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     Site            306
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P08133.3)"
     Region          363..434
                     /region_name="Annexin 5.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
                     /note="propagated from UniProtKB/Swiss-Prot (P08133.3)"
     Region          368..432
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     Site            370
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P08133.3)"
     Site            418
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P08133.3)"
     Site            422
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48037; propagated from
                     UniProtKB/Swiss-Prot (P08133.3)"
     Region          435..506
                     /region_name="Annexin 6.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
                     /note="propagated from UniProtKB/Swiss-Prot (P08133.3)"
     Region          439..504
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     Site            483
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P08133.3)"
     Region          521..595
                     /region_name="Annexin 7.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
                     /note="propagated from UniProtKB/Swiss-Prot (P08133.3)"
     Region          527..593
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     Site            537
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08133.3)"
     Region          599..670
                     /region_name="Annexin 8.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
                     /note="propagated from UniProtKB/Swiss-Prot (P08133.3)"
     Region          603..668
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     Site            620
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P08133.3)"
     CDS             1..673
                     /gene="ANXA6"
                     /gene_synonym="ANX6; CBP68; CPB-II; p68; p70"
                     /coded_by="NM_001155.5:126..2147"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS47315.1"
                     /db_xref="GeneID:309"
                     /db_xref="HGNC:HGNC:544"
                     /db_xref="MIM:114070"
ORIGIN      
        1 makpaqgaky rgsihdfpgf dpnqdaealy tamkgfgsdk eaildiitsr snrqrqevcq
       61 sykslygkdl iadlkyeltg kferlivglm rppaycdake ikdaisgigt dekclieila
      121 srtneqmhql vaaykdayer dleadiigdt sghfqkmlvv llqgtreedd vvsedlvqqd
      181 vqdlyeagel kwgtdeaqfi yilgnrskqh lrlvfdeylk ttgkpieasi rgelsgdfek
      241 lmlavvkcir stpeyfaerl fkamkglgtr dntlirimvs rseldmldir eifrtkyeks
      301 lysmikndts geykktllkl sggdddaagq ffpeaaqvay qmwelsavar velkgtvrpa
      361 ndfnpdadak alrkamkglg tdedtiidii thrsnvqrqq irqtfkshfg rdlmtdlkse
      421 isgdlarlil glmmppahyd akqlkkameg agtdekalie ilatrtnaei raineayked
      481 yhksledals sdtsghfrri lislatghre eggenldqar edaqvaaeil eiadtpsgdk
      541 tsletrfmti lctrsyphlr rvfqefikmt nydvehtikk emsgdvrdaf vaivqsvknk
      601 plffadklyk smkgagtdek tltrimvsrs eidllnirre fiekydkslh qaiegdtsgd
      661 flkallalcg ged
//
LOCUS       NP_015565                278 aa            linear   PRI 21-DEC-2022
DEFINITION  NADH-cytochrome b5 reductase 3 isoform 2 [Homo sapiens].
ACCESSION   NP_015565
VERSION     NP_015565.1
DBSOURCE    REFSEQ: accession NM_007326.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 278)
  AUTHORS   Deorukhkar A, Kulkarni A and Kedar P.
  TITLE     Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5
            reductase enzyme deficiency leads to recessive congenital
            methaemoglobinemia
  JOURNAL   Mol Biol Rep 49 (3), 2141-2147 (2022)
   PUBMED   35064402
  REMARK    GeneRIF: Three novel mutations in CYB5R3 gene causing
            NADH-cytochrome b5 reductase enzyme deficiency leads to recessive
            congenital methaemoglobinemia.
REFERENCE   2  (residues 1 to 278)
  AUTHORS   Gordeuk VR, Shah BN, Zhang X, Thuma PE, Zulu S, Moono R, Reading
            NS, Song J, Zhang Y, Nouraie M, Campbell A, Minniti CP, Rana SR,
            Darbari DS, Kato GJ, Niu M, Castro OL, Machado R, Gladwin MT and
            Prchal JT.
  TITLE     The CYB5R3c.350C>G and G6PD A alleles modify severity of anemia in
            malaria and sickle cell disease
  JOURNAL   Am J Hematol 95 (11), 1269-1279 (2020)
   PUBMED   32697331
  REMARK    GeneRIF: The CYB5R3(c) (.350C>G) and G6PD A alleles modify severity
            of anemia in malaria and sickle cell disease.
REFERENCE   3  (residues 1 to 278)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 278)
  AUTHORS   Gupta V, Kulkarni A, Warang P, Devendra R, Chiddarwar A and Kedar
            P.
  TITLE     Mutation update: Variants of the CYB5R3 gene in recessive
            congenital methemoglobinemia
  JOURNAL   Hum Mutat 41 (4), 737-748 (2020)
   PUBMED   31898843
  REMARK    GeneRIF: Mutation update: Variants of the CYB5R3 gene in recessive
            congenital methemoglobinemia.
REFERENCE   5  (residues 1 to 278)
  AUTHORS   Kedar PS, Gupta V, Warang P, Chiddarwar A and Madkaikar M.
  TITLE     Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5
            reductase deficiency in eight Indian patients associated with
            autosomal recessive congenital methemoglobinemia type-I
  JOURNAL   Hematology 23 (8), 567-573 (2018)
   PUBMED   29482478
  REMARK    GeneRIF: study indicated that novel homozygous mutation p.Arg192Cys
            in CYB5R3 gene present in eight cases and the possibility of high
            prevalence of heterozygous in Indian population causing Type I
            recessive congenital methemoglobinemia.
REFERENCE   6  (residues 1 to 278)
  AUTHORS   Shirabe K, Yubisui T, Borgese N, Tang CY, Hultquist DE and
            Takeshita M.
  TITLE     Enzymatic instability of NADH-cytochrome b5 reductase as a cause of
            hereditary methemoglobinemia type I (red cell type)
  JOURNAL   J Biol Chem 267 (28), 20416-20421 (1992)
   PUBMED   1400360
REFERENCE   7  (residues 1 to 278)
  AUTHORS   Malkinson AM, Siegel D, Forrest GL, Gazdar AF, Oie HK, Chan DC,
            Bunn PA, Mabry M, Dykes DJ, Harrison SD et al.
  TITLE     Elevated DT-diaphorase activity and messenger RNA content in human
            non-small cell lung carcinoma: relationship to the response of lung
            tumor xenografts to mitomycin Cl
  JOURNAL   Cancer Res 52 (17), 4752-4757 (1992)
   PUBMED   1324793
REFERENCE   8  (residues 1 to 278)
  AUTHORS   Narahara K, Takahashi Y, Murakami M, Tsuji K, Yokoyama Y, Murakami
            R, Ninomiya S and Seino Y.
  TITLE     Terminal 22q deletion associated with a partial deficiency of
            arylsulphatase A
  JOURNAL   J Med Genet 29 (6), 432-433 (1992)
   PUBMED   1352356
  REMARK    Review article
REFERENCE   9  (residues 1 to 278)
  AUTHORS   Katsube T, Sakamoto N, Kobayashi Y, Seki R, Hirano M, Tanishima K,
            Tomoda A, Takazakura E, Yubisui T, Takeshita M et al.
  TITLE     Exonic point mutations in NADH-cytochrome B5 reductase genes of
            homozygotes for hereditary methemoglobinemia, types I and III:
            putative mechanisms of tissue-dependent enzyme deficiency
  JOURNAL   Am J Hum Genet 48 (4), 799-808 (1991)
   PUBMED   1707593
REFERENCE   10 (residues 1 to 278)
  AUTHORS   Dailey,H.A. and Strittmatter,P.
  TITLE     Modification and identification of cytochrome b5 carboxyl groups
            involved in protein-protein interaction with cytochrome b5
            reductase
  JOURNAL   J Biol Chem 254 (12), 5388-5396 (1979)
   PUBMED   221468
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB029897.1, AJ310900.1 and
            Z93241.11.
            
            Summary: This gene encodes cytochrome b5 reductase, which includes
            a membrane-bound form in somatic cells (anchored in the endoplasmic
            reticulum, mitochondrial and other membranes) and a soluble form in
            erythrocytes. The membrane-bound form exists mainly on the
            cytoplasmic side of the endoplasmic reticulum and functions in
            desaturation and elongation of fatty acids, in cholesterol
            biosynthesis, and in drug metabolism. The erythrocyte form is
            located in a soluble fraction of circulating erythrocytes and is
            involved in methemoglobin reduction. The membrane-bound form has
            both membrane-binding and catalytic domains, while the soluble form
            has only the catalytic domain. Alternate splicing results in
            multiple transcript variants. Mutations in this gene cause
            methemoglobinemias. [provided by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (2) uses an alternate exon in the
            5' UTR and 5' coding region, compared to variant 1. The resulting
            isoform (2) is the soluble form of the enzyme, which has a shorter
            N-terminus when it is compared to the membrane-bound form. This
            isoform (2) is referred to in the literature as isoform s.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR279835.8659.1, ERR279860.4679.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..278
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     Protein         1..278
                     /product="NADH-cytochrome b5 reductase 3 isoform 2"
                     /EC_number="1.6.2.2"
                     /note="diaphorase-1; NADH-cytochrome b5 reductase 3
                     membrane-bound form; NADH-cytochrome b5 reductase 3
                     soluble form; mutant NADH-cytochrome b5 reductase"
                     /calculated_mol_wt=31498
     Region          <15..278
                     /region_name="PLN02252"
                     /note="nitrate reductase [NADPH]"
                     /db_xref="CDD:215141"
     CDS             1..278
                     /gene="CYB5R3"
                     /gene_synonym="B5R; DIA1"
                     /coded_by="NM_007326.4:153..989"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS14040.1"
                     /db_xref="GeneID:1727"
                     /db_xref="HGNC:HGNC:2873"
                     /db_xref="MIM:613213"
ORIGIN      
        1 mklfqrstpa itlespdiky plrlidreii shdtrrfrfa lpspqhilgl pvgqhiylsa
       61 ridgnlvvrp ytpissdddk gfvdlvikvy fkdthpkfpa ggkmsqyles mqigdtiefr
      121 gpsgllvyqg kgkfairpdk ksnpiirtvk svgmiaggtg itpmlqvira imkdpddhtv
      181 chllfanqte kdillrpele elrnkhsarf klwytldrap eawdygqgfv neemirdhlp
      241 ppeeeplvlm cgpppmiqya clpnldhvgh ptercfvf
//
LOCUS       NP_001305268            1019 aa            linear   PRI 25-DEC-2022
DEFINITION  formin-binding protein 4 isoform 1 [Homo sapiens].
ACCESSION   NP_001305268 XP_005252890
VERSION     NP_001305268.1
DBSOURCE    REFSEQ: accession NM_001318339.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1019)
  AUTHORS   Das A, Bhattacharya S, Bhattacharjee S, Bagchi A and Dasgupta R.
  TITLE     Computational analyses of the length and compositional variations
            of the FNBP4 gene across 10 different species
  JOURNAL   Gene 575 (2 Pt 3), 765-777 (2016)
   PUBMED   26456197
REFERENCE   2  (residues 1 to 1019)
  AUTHORS   Nourashrafeddin S, Aarabi M, Modarressi MH, Rahmati M and Nouri M.
  TITLE     The Evaluation of WBP2NL-Related Genes Expression in Breast Cancer
  JOURNAL   Pathol Oncol Res 21 (2), 293-300 (2015)
   PUBMED   25417742
REFERENCE   3  (residues 1 to 1019)
  AUTHORS   Das A, Bhattacharya S, Bagchi A and Dasgupta R.
  TITLE     In-silico characterization of Formin Binding Protein 4 Family of
            proteins
  JOURNAL   Interdiscip Sci 7 (1), 43-64 (2015)
   PUBMED   25183348
REFERENCE   4  (residues 1 to 1019)
  AUTHORS   Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama
            K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N,
            Saitsu H and Matsumoto N.
  TITLE     Whole-exome sequencing identified a homozygous FNBP4 mutation in a
            family with a condition similar to microphthalmia with limb
            anomalies
  JOURNAL   Am J Med Genet A 161A (7), 1543-1546 (2013)
   PUBMED   23703728
  REMARK    GeneRIF: A c.683C>T (p.Thr228Met) mutation in FNBP4 was found as a
            primary candidate to microphthalmia with limb anomalies
REFERENCE   5  (residues 1 to 1019)
  AUTHORS   Aspenstrom P.
  TITLE     Formin-binding proteins: modulators of formin-dependent actin
            polymerization
  JOURNAL   Biochim Biophys Acta 1803 (2), 174-182 (2010)
   PUBMED   19589360
  REMARK    Review article
REFERENCE   6  (residues 1 to 1019)
  AUTHORS   Zucconi A, Dente L, Santonico E, Castagnoli L and Cesareni G.
  TITLE     Selection of ligands by panning of domain libraries displayed on
            phage lambda reveals new potential partners of synaptojanin 1
  JOURNAL   J Mol Biol 307 (5), 1329-1339 (2001)
   PUBMED   11292345
REFERENCE   7  (residues 1 to 1019)
  AUTHORS   Bedford MT, Sarbassova D, Xu J, Leder P and Yaffe MB.
  TITLE     A novel pro-Arg motif recognized by WW domains
  JOURNAL   J Biol Chem 275 (14), 10359-10369 (2000)
   PUBMED   10744724
REFERENCE   8  (residues 1 to 1019)
  AUTHORS   Depraetere V and Golstein P.
  TITLE     WW domain-containing FBP-30 is regulated by p53
  JOURNAL   Cell Death Differ 6 (9), 883-889 (1999)
   PUBMED   10510470
REFERENCE   9  (residues 1 to 1019)
  AUTHORS   Chan DC and Leder P.
  TITLE     Genetic evidence that formins function within the nucleus
  JOURNAL   J Biol Chem 271 (38), 23472-23477 (1996)
   PUBMED   8798555
REFERENCE   10 (residues 1 to 1019)
  AUTHORS   Chan DC, Bedford MT and Leder P.
  TITLE     Formin binding proteins bear WWP/WW domains that bind proline-rich
            peptides and functionally resemble SH3 domains
  JOURNAL   EMBO J 15 (5), 1045-1054 (1996)
   PUBMED   8605874
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY166173.1, DA238225.1,
            AB023231.2, AI434014.1 and AC021443.27.
            On Jan 1, 2016 this sequence version replaced XP_005252890.1.
            
            Summary: This gene encodes a protein containing two tryptophan-rich
            WW domains that binds the proline-rich formin homology 1 domains of
            formin family proteins, suggesting a role in the regulation of
            cytoskeletal dynamics during cell division and migration. It also
            binds intersectin family proteins suggesting a role in the
            maintenance of membrane curvature at sites of nascent vesicle
            formation. Naturally occurring mutations in this gene are
            associated with Waardenburg anophthalmia syndrome. [provided by
            RefSeq, Apr 2017].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB023231.2, SRR7346977.1716670.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1019
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..1019
                     /product="formin-binding protein 4 isoform 1"
                     /note="formin-binding protein 30"
                     /calculated_mol_wt=110320
     Site            18
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            118
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            126
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZQ03; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Region          162..204
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            174
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Region          221..248
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Site            order(234,245)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Site            292
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZQ03; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Region          423..521
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            429
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZQ03; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            434
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            437
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            440
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZQ03; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            444
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZQ03; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            466
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            481
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            501
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            510
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            518
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            519
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Region          600..631
                     /region_name="WW"
                     /note="Two conserved tryptophans domain; also known as the
                     WWP or rsp5 domain; around 40 amino acids; functions as an
                     interaction module in a diverse set of signalling
                     proteins; binds specific proline-rich sequences but at low
                     affinities compared to other...; cd00201"
                     /db_xref="CDD:238122"
     Site            order(614,626)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          623..678
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Region          708..794
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Region          901..996
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            965
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            966
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     Site            967
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3)"
     CDS             1..1019
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /coded_by="NM_001318339.3:54..3113"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="GeneID:23360"
                     /db_xref="HGNC:HGNC:19752"
                     /db_xref="MIM:615265"
ORIGIN      
        1 mgkksravpg rrpilqlspp gprgstpgrd pepepdtepd staavpsqpa psaattttta
       61 vtaaaasdds psegkdeqea vqevprvvqn ppkpvmttrp tavkatgglc llgayadsdd
      121 ddndvsekla qsketngnqs tdidstlanf laeidaitap qpaapvgasa ppptpprpep
      181 keaatstlss stsngtdstq tsgwqydtqc slagvgiemg dwqevwdent gcyyywntqt
      241 nevtwelpqy latqvqglqh yqpssvpgae tsfvvntdiy skektisvss sksgpviakr
      301 evkkevnegi qalsnseeek kgvaasllap llpegikeee erwrrkvick eepvsevket
      361 sttveeatti vkpqeimldn iedpsqedlc svvqsgesee eeeqdtlele lvlerkkael
      421 raleegdgsv sgssprsdis qpasqdgmrr lmskrgkwkm fvratspest srsssktgrd
      481 tpengetaig aensekiden sdkemevees pekikvqttp kveeeqdlkf qigelantlt
      541 skfeflginr qsisnfhvll lqtetriadw regalngnyl krklqdaaeq lkqyeinatp
      601 kgwschwdrd hrryfyvneq sgesqwefpd geeeeeesqa qenrdetlak qtlkdktgtd
      661 snstessets tgslckesfs gqvsssslmp ltpfwtllqs nvpvlqpplp lemppppppp
      721 pesppppppp pppaedgeiq evemedegse eppapgteed tplkpsaqtt vvtsqssvds
      781 tissssstkg ikrkateist avvqrsatig sspvlysqsa iatghqaagi gnqatgighq
      841 tipvslpaag mghqargmsl qsnylglaaa paimsyaecs vpigvtapsl qpvqargavp
      901 tatiiepppp pppppppppp apkmpppekt kkgrkdkakk sktkmpslvk kwqsiqreld
      961 eednssssee drestaqkri eewkqqqlvs gmaernanfe alpedwrarl krrkmapnt
//
LOCUS       NP_954981                289 aa            linear   PRI 25-DEC-2022
DEFINITION  coiled-coil domain-containing protein 137 [Homo sapiens].
ACCESSION   NP_954981 XP_290771
VERSION     NP_954981.1
DBSOURCE    REFSEQ: accession NM_199287.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 289)
  AUTHORS   Dai W, Wu J, Peng X, Hou W, Huang H, Cheng Q, Liu Z, Luyten W,
            Schoofs L, Zhou J and Liu S.
  TITLE     CDK12 orchestrates super-enhancer-associated CCDC137 transcription
            to direct hepatic metastasis in colorectal cancer
  JOURNAL   Clin Transl Med 12 (10), e1087 (2022)
   PUBMED   36254394
  REMARK    GeneRIF: CDK12 orchestrates super-enhancer-associated CCDC137
            transcription to direct hepatic metastasis in colorectal cancer.
REFERENCE   2  (residues 1 to 289)
  AUTHORS   Bai L, Yang ZX, Liu JS, Wang DS and Yu HC.
  TITLE     Prognostic Significance of CCDC137 Expression and Its Association
            with Immune Infiltration in Hepatocellular Carcinoma
  JOURNAL   Dis Markers 2022, 5638675 (2022)
   PUBMED   36061359
  REMARK    GeneRIF: Prognostic Significance of CCDC137 Expression and Its
            Association with Immune Infiltration in Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 289)
  AUTHORS   Zhang F and Bieniasz PD.
  TITLE     HIV-1 Vpr induces cell cycle arrest and enhances viral gene
            expression by depleting CCDC137
  JOURNAL   Elife 9, e55806 (2020)
   PUBMED   32538781
  REMARK    GeneRIF: HIV-1 Vpr induces cell cycle arrest and enhances viral
            gene expression by depleting CCDC137.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 289)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   5  (residues 1 to 289)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   6  (residues 1 to 289)
  AUTHORS   Um SJ, Youn H and Kim EJ.
  TITLE     Negative regulation of ERRalpha by a novel nucleolar protein
  JOURNAL   Biochem Biophys Res Commun 418 (2), 290-295 (2012)
   PUBMED   22266318
  REMARK    GeneRIF: These data suggest that RaRF sequesters ERRalpha in the
            nucleolus through a specific interaction, thereby inhibiting its
            transcriptional activity.
REFERENCE   7  (residues 1 to 289)
  AUTHORS   Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
            Safari A, Liu D and Songyang Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   8  (residues 1 to 289)
  AUTHORS   Ohta S, Bukowski-Wills JC, Sanchez-Pulido L, Alves Fde L, Wood L,
            Chen ZA, Platani M, Fischer L, Hudson DF, Ponting CP, Fukagawa T,
            Earnshaw WC and Rappsilber J.
  TITLE     The protein composition of mitotic chromosomes determined using
            multiclassifier combinatorial proteomics
  JOURNAL   Cell 142 (5), 810-821 (2010)
   PUBMED   20813266
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC139530.3.
            On Jan 4, 2004 this sequence version replaced XP_290771.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: FJ649645.1, BC009369.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000329214.13/ ENSP00000329360.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..289
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..289
                     /product="coiled-coil domain-containing protein 137"
                     /note="hepatocellular carcinoma related protein 2;
                     retinoic acid resistance factor"
                     /calculated_mol_wt=33100
     Region          1..64
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PK04.1)"
     Site            19
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q6PK04.1)"
     Region          149..184
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PK04.1)"
     Region          204..225
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PK04.1)"
     Site            233
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332;
                     propagated from UniProtKB/Swiss-Prot (Q6PK04.1)"
     Region          265..289
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PK04.1)"
     CDS             1..289
                     /gene="CCDC137"
                     /gene_synonym="RaRF"
                     /coded_by="NM_199287.3:31..900"
                     /db_xref="CCDS:CCDS42400.1"
                     /db_xref="GeneID:339230"
                     /db_xref="HGNC:HGNC:33451"
                     /db_xref="MIM:614271"
ORIGIN      
        1 magagrgaav srvqagpgsp rrargrqqvq plgkqrpapw pglrskekkk vnckpknqde
       61 qeipfrlrei mrsrqemknp isnkkrkkaa qvtfrktlek eakgeepdia vpkfkqrkge
      121 sdgayihrmq qeaqhvlfls knqairqpev qaapkekseq kkakkafqkr rldkvrrkke
      181 ekaadrleqe llrdtvkfge vvlqppelta rpqrsvskdq pgrrsqmlrm llspggvsqp
      241 ltaslarqri veeereravq ayralkqrqq qlhgerphlt srkkpepql
//
LOCUS       NP_001153218             813 aa            linear   PRI 26-DEC-2022
DEFINITION  active breakpoint cluster region-related protein isoform c [Homo
            sapiens].
ACCESSION   NP_001153218
VERSION     NP_001153218.1
DBSOURCE    REFSEQ: accession NM_001159746.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 813)
  AUTHORS   Faralli JA, Desikan H, Peotter J, Kanneganti N, Weinhaus B, Filla
            MS and Peters DM.
  TITLE     Genomic/proteomic analyses of dexamethasone-treated human
            trabecular meshwork cells reveal a role for GULP1 and ABR in
            phagocytosis
  JOURNAL   Mol Vis 25, 237-254 (2019)
   PUBMED   31516309
  REMARK    GeneRIF: The knockdown of GULP1 and ABR using siRNAs decreased
            phagocytosis by 40%.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 813)
  AUTHORS   Ohgushi M, Minaguchi M, Eiraku M and Sasai Y.
  TITLE     A RHO Small GTPase Regulator ABR Secures Mitotic Fidelity in Human
            Embryonic Stem Cells
  JOURNAL   Stem Cell Reports 9 (1), 58-66 (2017)
   PUBMED   28579391
  REMARK    GeneRIF: ABR depletion leads to G2/M accumulation in human
            embryonic stem cells. Centrosome dynamics and mitotic fidelity are
            compromised upon ABR depletion. When mitosis progresses without
            ABR, human embryonic stem cells show a high incidence of
            aneuploidy.
REFERENCE   3  (residues 1 to 813)
  AUTHORS   Oh D, Han S, Seo J, Lee JR, Choi J, Groffen J, Kim K, Cho YS, Choi
            HS, Shin H, Woo J, Won H, Park SK, Kim SY, Jo J, Whitcomb DJ, Cho
            K, Kim H, Bae YC, Heisterkamp N, Choi SY and Kim E.
  TITLE     Regulation of synaptic Rac1 activity, long-term potentiation
            maintenance, and learning and memory by BCR and ABR Rac
            GTPase-activating proteins
  JOURNAL   J Neurosci 30 (42), 14134-14144 (2010)
   PUBMED   20962234
REFERENCE   4  (residues 1 to 813)
  AUTHORS   Cho YJ, Cunnick JM, Yi SJ, Kaartinen V, Groffen J and Heisterkamp
            N.
  TITLE     Abr and Bcr, two homologous Rac GTPase-activating proteins, control
            multiple cellular functions of murine macrophages
  JOURNAL   Mol Cell Biol 27 (3), 899-911 (2007)
   PUBMED   17116687
REFERENCE   5  (residues 1 to 813)
  AUTHORS   Zhang T, Xu Q, Chen FR, Han QD and Zhang YY.
  TITLE     Yeast two-hybrid screening for proteins that interact with
            alpha1-adrenergic receptors
  JOURNAL   Acta Pharmacol Sin 25 (11), 1471-1478 (2004)
   PUBMED   15525470
REFERENCE   6  (residues 1 to 813)
  AUTHORS   Chuang TH, Xu X, Kaartinen V, Heisterkamp N, Groffen J and Bokoch
            GM.
  TITLE     Abr and Bcr are multifunctional regulators of the Rho GTP-binding
            protein family
  JOURNAL   Proc Natl Acad Sci U S A 92 (22), 10282-10286 (1995)
   PUBMED   7479768
REFERENCE   7  (residues 1 to 813)
  AUTHORS   McDonald JD, Daneshvar L, Willert JR, Matsumura K, Waldman F and
            Cogen PH.
  TITLE     Physical mapping of chromosome 17p13.3 in the region of a putative
            tumor suppressor gene important in medulloblastoma
  JOURNAL   Genomics 23 (1), 229-232 (1994)
   PUBMED   7829075
REFERENCE   8  (residues 1 to 813)
  AUTHORS   Tan EC, Leung T, Manser E and Lim L.
  TITLE     The human active breakpoint cluster region-related gene encodes a
            brain protein with homology to guanine nucleotide exchange proteins
            and GTPase-activating proteins
  JOURNAL   J Biol Chem 268 (36), 27291-27298 (1993)
   PUBMED   8262969
REFERENCE   9  (residues 1 to 813)
  AUTHORS   Heisterkamp N, Kaartinen V, van Soest S, Bokoch GM and Groffen J.
  TITLE     Human ABR encodes a protein with GAPrac activity and homology to
            the DBL nucleotide exchange factor domain
  JOURNAL   J Biol Chem 268 (23), 16903-16906 (1993)
   PUBMED   8349582
REFERENCE   10 (residues 1 to 813)
  AUTHORS   Heisterkamp N, Morris C and Groffen J.
  TITLE     ABR, an active BCR-related gene
  JOURNAL   Nucleic Acids Res 17 (21), 8821-8831 (1989)
   PUBMED   2587217
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK124547.1, AC016292.26,
            DA327723.1, AK302682.1, AK126882.1, AC015884.15, AK127851.1 and
            AL135250.1.
            
            Summary: This gene encodes a protein that is similar to the protein
            encoded by the breakpoint cluster region gene located on chromosome
            22. The protein encoded by this gene contains a GTPase-activating
            protein domain, a domain found in members of the Rho family of
            GTP-binding proteins. Functional studies in mice determined that
            this protein plays a role in vestibular morphogenesis.
            Alternatively spliced transcript variants have been reported for
            this gene. [provided by RefSeq, Feb 2012].
            
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream start codon, compared to variant 1. The encoded isoform
            (c) is shorter than isoform a. Variants 3 and 6 encode the same
            isoform (c).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK124547.1, SRR1660805.241428.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..813
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     Protein         1..813
                     /product="active breakpoint cluster region-related protein
                     isoform c"
                     /note="active breakpoint cluster region-related protein;
                     ABR, RhoGEF and GTPase activating protein; active
                     BCR-related"
                     /calculated_mol_wt=92295
     Region          46..236
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(52,56,153,187..188,191..192,194..195,198..199,
                     202..203,206,232,236)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          231..414
                     /region_name="PH_ABR"
                     /note="Active breakpoint cluster region-related protein
                     pleckstrin homology (PH) domain; cd13366"
                     /db_xref="CDD:270172"
     Region          460..580
                     /region_name="C2_ABR"
                     /note="C2 domain in the Active BCR (Breakpoint cluster
                     region) Related protein; cd08686"
                     /db_xref="CDD:176068"
     Region          599..794
                     /region_name="RhoGAP_Bcr"
                     /note="RhoGAP (GTPase-activator protein [GAP] for Rho-like
                     small GTPases) domain of Bcr (breakpoint cluster region
                     protein)-like proteins. Bcr is a multidomain protein with
                     a variety of enzymatic functions. It contains a RhoGAP and
                     a Rho GEF domain, a Ser/Thr...; cd04387"
                     /db_xref="CDD:239852"
     Site            order(637,676,680,749,752..753,785)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239852"
     Site            637
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239852"
     CDS             1..813
                     /gene="ABR"
                     /gene_synonym="MDB"
                     /coded_by="NM_001159746.3:551..2992"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS54060.1"
                     /db_xref="GeneID:29"
                     /db_xref="HGNC:HGNC:81"
                     /db_xref="MIM:600365"
ORIGIN      
        1 mpyidesptm spqlsarsqg ggdgvsptpp eglapgveag kglemrklvl sgflaseeiy
       61 inqlealllp mkplkatatt sqpvltiqqi etifykiqdi yeihkefydn lcpkvqqwds
      121 qvtmghlfqk lasqlgvyka fvdnykvale taekcsqsnn qfqkiseelk vkgpkdskds
      181 htsvtmeall ykpidrvtrs tlvlhdllkh tpvdhpdypl lqdalrisqn flssinedid
      241 prrtavttpk getrqlvkdg flvevsessr klrhvflftd vllcaklkkt sagkhqqydc
      301 kwyipladlv fpspeeseas pqvhpfpdhe ledmkmkisa lkseiqkeka nkgqsraier
      361 lkkkmfenef llllnsptip frihnrngks ylfllssdye rsewreaiqk lqkkdlqafv
      421 lssvelqvlt gscfklrtvh nipvtsnkdd despglygfl hvivhsakgf kqsanlyctl
      481 evdsfgyfvs kaktrvfrdt aepkwdeefe ielegsqslr ilcyekcydk tkvnkdnnei
      541 vdkimgkgqi qldpqtvetk nwhtdviemn gikvefsmkf tsrdmslkrt pskkqtgvfg
      601 vkisvvtkre rskvpyivrq cveevekrgi eevgiyrisg vatdiqalka vfdannkdil
      661 lmlsdmdina iagtlklyfr elpeplltdr lypafmegia lsdpaakenc mmhllrslpd
      721 pnlitflfll ehlkrvaeke pinkmslhnl atvfgptllr pseveskahl tsaadiwshd
      781 vmaqvqvlly ylqhppisfa elkrntlyfs tdv
//
LOCUS       NP_570971                926 aa            linear   PRI 26-DEC-2022
DEFINITION  OTU domain-containing protein 7A isoform 1 [Homo sapiens].
ACCESSION   NP_570971 XP_943151
VERSION     NP_570971.1
DBSOURCE    REFSEQ: accession NM_130901.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 926)
  AUTHORS   Su S, Chen J, Jiang Y, Wang Y, Vital T, Zhang J, Laggner C, Nguyen
            KT, Zhu Z, Prevatte AW, Barker NK, Herring LE, Davis IJ and Liu P.
  TITLE     SPOP and OTUD7A Control EWS-FLI1 Protein Stability to Govern Ewing
            Sarcoma Growth
  JOURNAL   Adv Sci (Weinh) 8 (14), e2004846 (2021)
   PUBMED   34060252
  REMARK    GeneRIF: SPOP and OTUD7A Control EWS-FLI1 Protein Stability to
            Govern Ewing Sarcoma Growth.
REFERENCE   2  (residues 1 to 926)
  AUTHORS   Liu W, Lei L, Liu X and Ye S.
  TITLE     CircRNA_OTUD7A upregulates FOXP1 expression to facilitate the
            progression of diffuse large B-cell lymphoma via acting as a sponge
            of miR-431-5p
  JOURNAL   Genes Genomics 43 (6), 653-667 (2021)
   PUBMED   33830472
  REMARK    GeneRIF: CircRNA_OTUD7A upregulates FOXP1 expression to facilitate
            the progression of diffuse large B-cell lymphoma via acting as a
            sponge of miR-431-5p.
REFERENCE   3  (residues 1 to 926)
  AUTHORS   Suzuki H, Inaba M, Yamada M, Uehara T, Takenouchi T, Mizuno S,
            Kosaki K and Doi M.
  TITLE     Biallelic loss of OTUD7A causes severe muscular hypotonia,
            intellectual disability, and seizures
  JOURNAL   Am J Med Genet A 185 (4), 1182-1186 (2021)
   PUBMED   33381903
  REMARK    GeneRIF: Biallelic loss of OTUD7A causes severe muscular hypotonia,
            intellectual disability, and seizures.
REFERENCE   4  (residues 1 to 926)
  AUTHORS   Garret P, Ebstein F, Delplancq G, Dozieres-Puyravel B, Boughalem A,
            Auvin S, Duffourd Y, Klafack S, Zieba BA, Mahmoudi S, Singh KK,
            Duplomb L, Thauvin-Robinet C, Costa JM, Kruger E, Trost D, Verloes
            A, Faivre L and Vitobello A.
  TITLE     Report of the first patient with a homozygous OTUD7A variant
            responsible for epileptic encephalopathy and related proteasome
            dysfunction
  JOURNAL   Clin Genet 97 (4), 567-575 (2020)
   PUBMED   31997314
  REMARK    GeneRIF: Report of the first patient with a homozygous OTUD7A
            variant responsible for epileptic encephalopathy and related
            proteasome dysfunction.
REFERENCE   5  (residues 1 to 926)
  AUTHORS   Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L,
            Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia
            G, D'Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M,
            Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer
            SW and Singh KK.
  TITLE     OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3
            Microdeletion Syndrome
  JOURNAL   Am J Hum Genet 102 (2), 278-295 (2018)
   PUBMED   29395074
  REMARK    GeneRIF: OTUD7A is a major regulatory gene for 15q13.3
            microdeletion syndrome phenotypes.
REFERENCE   6  (residues 1 to 926)
  AUTHORS   Xu Z, Pei L, Wang L, Zhang F, Hu X and Gui Y.
  TITLE     Snail1-dependent transcriptional repression of Cezanne2 in
            hepatocellular carcinoma
  JOURNAL   Oncogene 33 (22), 2836-2845 (2014)
   PUBMED   23792447
  REMARK    GeneRIF: Snail1-mediated suppression of Cezanne2 may have a key
            role in HCC malignancy.
REFERENCE   7  (residues 1 to 926)
  AUTHORS   Mevissen TE, Hospenthal MK, Geurink PP, Elliott PR, Akutsu M,
            Arnaudo N, Ekkebus R, Kulathu Y, Wauer T, El Oualid F, Freund SM,
            Ovaa H and Komander D.
  TITLE     OTU deubiquitinases reveal mechanisms of linkage specificity and
            enable ubiquitin chain restriction analysis
  JOURNAL   Cell 154 (1), 169-184 (2013)
   PUBMED   23827681
REFERENCE   8  (residues 1 to 926)
  AUTHORS   Tang W, Teichert M, Chasman DI, Heit JA, Morange PE, Li G, Pankratz
            N, Leebeek FW, Pare G, de Andrade M, Tzourio C, Psaty BM, Basu S,
            Ruiter R, Rose L, Armasu SM, Lumley T, Heckbert SR, Uitterlinden
            AG, Lathrop M, Rice KM, Cushman M, Hofman A, Lambert JC, Glazer NL,
            Pankow JS, Witteman JC, Amouyel P, Bis JC, Bovill EG, Kong X, Tracy
            RP, Boerwinkle E, Rotter JI, Tregouet DA, Loth DW, Stricker BHC,
            Ridker PM, Folsom AR and Smith NL.
  TITLE     A genome-wide association study for venous thromboembolism: the
            extended cohorts for heart and aging research in genomic
            epidemiology (CHARGE) consortium
  JOURNAL   Genet Epidemiol 37 (5), 512-521 (2013)
   PUBMED   23650146
REFERENCE   9  (residues 1 to 926)
  AUTHORS   Morrison AC, Felix JF, Cupples LA, Glazer NL, Loehr LR, Dehghan A,
            Demissie S, Bis JC, Rosamond WD, Aulchenko YS, Wang YA, Haritunians
            T, Folsom AR, Rivadeneira F, Benjamin EJ, Lumley T, Couper D,
            Stricker BH, O'Donnell CJ, Rice KM, Chang PP, Hofman A, Levy D,
            Rotter JI, Fox ER, Uitterlinden AG, Wang TJ, Psaty BM, Willerson
            JT, van Duijn CM, Boerwinkle E, Witteman JC, Vasan RS and Smith NL.
  TITLE     Genomic variation associated with mortality among adults of
            European and African ancestry with heart failure: the cohorts for
            heart and aging research in genomic epidemiology consortium
  JOURNAL   Circ Cardiovasc Genet 3 (3), 248-255 (2010)
   PUBMED   20400778
  REMARK    GeneRIF: Meta-analysis and genome-wide association study of
            gene-disease association. (HuGE Navigator)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079969.5, HY011402.1,
            AC026951.5, AJ430383.1 and AC104759.10.
            On Mar 4, 2006 this sequence version replaced XP_943151.1.
            
            Summary: The protein encoded by this gene is a deubiquitinizing
            enzyme and possible tumor suppressor. The encoded protein acts on
            TNF receptor associated factor 6 (TRAF6) to control nuclear factor
            kappa B expression. However, this gene is downregulated by SNAIL1
            in hepatocellular carcinoma cells, contributing to their
            progression and malignancy. [provided by RefSeq, Aug 2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1968968, SAMEA2144120
                              [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..926
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.3"
     Protein         1..926
                     /product="OTU domain-containing protein 7A isoform 1"
                     /EC_number="3.4.19.12"
                     /note="cezanne 2; OTU domain-containing protein 7A; zinc
                     finger protein Cezanne 2; OTU domain-containing 7A"
                     /calculated_mol_wt=100546
     Region          26..68
                     /region_name="UBA_Cezanne_like"
                     /note="UBA-like domain found in OTU domain-containing
                     proteins OTU7A, OTU7B and similar proteins; cd14347"
                     /db_xref="CDD:270532"
     Region          75..99
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TE49.1)"
     Site            119
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8R554; propagated from
                     UniProtKB/Swiss-Prot (Q8TE49.1)"
     Region          168..410
                     /region_name="TRAF-binding. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TE49.1)"
     Region          174..373
                     /region_name="OTU_OTUD7A"
                     /note="OTU (ovarian tumor) domain of OTU domain-containing
                     protein 7A; cd22773"
                     /db_xref="CDD:438610"
     Region          183..449
                     /region_name="Catalytic. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TE49.1)"
     Site            order(209..210,254,266,273,301..304,326,329,334..336,340,
                     366,368)
                     /site_type="other"
                     /note="putative polypeptide substrate binding site
                     [polypeptide binding]"
                     /db_xref="CDD:438610"
     Region          452..514
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TE49.1)"
     Region          494..509
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TE49.1)"
     Region          537..613
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TE49.1)"
     Region          668..768
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TE49.1)"
     Site            880
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8R554; propagated from
                     UniProtKB/Swiss-Prot (Q8TE49.1)"
     Region          888..911
                     /region_name="zf-A20"
                     /note="A20-like zinc finger; pfam01754"
                     /db_xref="CDD:426411"
     CDS             1..926
                     /gene="OTUD7A"
                     /gene_synonym="C15orf16; C16ORF15; CEZANNE2; OTUD7"
                     /coded_by="NM_130901.3:390..3170"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS10026.1"
                     /db_xref="GeneID:161725"
                     /db_xref="HGNC:HGNC:20718"
                     /db_xref="MIM:612024"
ORIGIN      
        1 mvssvlpnpt saecwaallh dpmtldmdav lsdfvrstga epglardlle gknwdltaal
       61 sdyeqlrqvh tanlphvfne grgpkqpere pqpghkverp clqrqddiaq ekrlsrgish
      121 assaivslar shvasecnne qfplempiyt fqlpdlsvys edfrsfierd lieqatmval
      181 eqagrlnwws tvctsckrll plattgdgnc llhaaslgmw gfhdrdlvlr kalytmmrtg
      241 aerealkrrw rwqqtqqnke eewerewtel lklasseprt hfsknggtgg gvdnsedpvy
      301 esleefhvfv lahilrrpiv vvadtmlrds ggeafapipf ggiylplevp pnrchcsplv
      361 laydqahfsa lvsmeqrdqq reqavipltd sehkllplhf avdpgkdwew gkddndnarl
      421 ahlilsleak lnllhsymnv twiripsetr aplaqpespt asagedvqsl adsldsdrds
      481 vcsnsnsnng kngkdkekek qrkekdktra dsvanklgsf sktlgiklkk nmgglgglvh
      541 gkmgransan gkngdsaerg kekkaksrkg skeesgasas tspsekttps ptdkaagasp
      601 aekgggprgd awkystdvkl slnilraamq gerkfifagl lltshrhqfh eemigyylts
      661 aqerfsaeqe qrrrdaataa aaaaaaaaat akrpprrpet egvpvperas pgpptqlvlk
      721 lkerpspgpa agraaraaag gtaspgggar rasasgpvpg rsppaparqs vihvqasgar
      781 deacapavga lrpcatypqq nrslssqsys paraaalrtv ntveslarav pgalpgaagt
      841 agaaehksqt ytngfgalrd glefadadap tarsngecgr ggpgpvqrrc qrencafygr
      901 aetehycsyc yreelrrrre argarp
//
LOCUS       NP_001119522             256 aa            linear   PRI 27-DEC-2022
DEFINITION  hepatoma-derived growth factor isoform b [Homo sapiens].
ACCESSION   NP_001119522
VERSION     NP_001119522.1
DBSOURCE    REFSEQ: accession NM_001126050.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 256)
  AUTHORS   Zhou J, Huang CL, Liu HW, Zeng ZY and Tan J.
  TITLE     [miR-29a-3p Targets Hepatoma-Derived Growth Factor to Inhibit the
            Proliferation and Promote the Apoptosis of E6-1 Cells]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 30 (6), 1650-1654 (2022)
   PUBMED   36476884
  REMARK    GeneRIF: [miR-29a-3p Targets Hepatoma-Derived Growth Factor to
            Inhibit the Proliferation and Promote the Apoptosis of E6-1 Cells].
REFERENCE   2  (residues 1 to 256)
  AUTHORS   Hoelzinger DB, Quinton SJ, Walters DK, Vardam-Kaur T, Tschumper RC,
            Borges da Silva H and Jelinek DF.
  TITLE     Extracellular vesicle proteomic analysis leads to the discovery of
            HDGF as a new factor in multiple myeloma biology
  JOURNAL   Blood Adv 6 (11), 3458-3471 (2022)
   PUBMED   35395072
  REMARK    GeneRIF: Extracellular vesicle proteomic analysis leads to the
            discovery of HDGF as a new factor in multiple myeloma biology.
REFERENCE   3  (residues 1 to 256)
  AUTHORS   Fang Y and Yang Q.
  TITLE     Specificity protein 1-induced serine peptidase inhibitor, Kunitz
            Type 1 antisense RNA1 regulates colorectal cancer cell
            proliferation, migration, invasion and apoptosis through targeting
            heparin binding growth factor via sponging microRNA-214
  JOURNAL   Bioengineered 13 (2), 3309-3322 (2022)
   PUBMED   35068341
  REMARK    GeneRIF: Specificity protein 1-induced serine peptidase inhibitor,
            Kunitz Type 1 antisense RNA1 regulates colorectal cancer cell
            proliferation, migration, invasion and apoptosis through targeting
            heparin binding growth factor via sponging microRNA-214.
REFERENCE   4  (residues 1 to 256)
  AUTHORS   Xia C, Li Q, Cheng X, Wu T and Gao P.
  TITLE     miR-4323 targets hepatoma-derived growth factor (HDGF) to suppress
            colorectal cancer cell proliferation
  JOURNAL   Pathol Res Pract 225, 153544 (2021)
   PUBMED   34314948
  REMARK    GeneRIF: miR-4323 targets hepatoma-derived growth factor (HDGF) to
            suppress colorectal cancer cell proliferation.
REFERENCE   5  (residues 1 to 256)
  AUTHORS   Lee HP, Tsai KW and Lee CC.
  TITLE     Prognostic Influence of Cytoplasmic/Nuclear Hepatoma-derived Growth
            Factor in Head and Neck Cancer
  JOURNAL   Anticancer Res 41 (2), 803-810 (2021)
   PUBMED   33517285
  REMARK    GeneRIF: Prognostic Influence of Cytoplasmic/Nuclear
            Hepatoma-derived Growth Factor in Head and Neck Cancer.
REFERENCE   6  (residues 1 to 256)
  AUTHORS   Mori M, Morishita H, Nakamura H, Matsuoka H, Yoshida K, Kishima Y,
            Zhou Z, Kida H, Funakoshi T, Goya S, Yoshida M, Kumagai T,
            Tachibana I, Yamamoto Y, Kawase I and Hayashi S.
  TITLE     Hepatoma-derived growth factor is involved in lung remodeling by
            stimulating epithelial growth
  JOURNAL   Am J Respir Cell Mol Biol 30 (4), 459-469 (2004)
   PUBMED   12972397
  REMARK    GeneRIF: may be involved in lung remodeling after injury
REFERENCE   7  (residues 1 to 256)
  AUTHORS   Yoshida K, Nakamura H, Okuda Y, Enomoto H, Kishima Y, Uyama H, Ito
            H, Hirasawa T, Inagaki S and Kawase I.
  TITLE     Expression of hepatoma-derived growth factor in
            hepatocarcinogenesis
  JOURNAL   J Gastroenterol Hepatol 18 (11), 1293-1301 (2003)
   PUBMED   14535987
REFERENCE   8  (residues 1 to 256)
  AUTHORS   Kishima Y, Yamamoto H, Izumoto Y, Yoshida K, Enomoto H, Yamamoto M,
            Kuroda T, Ito H, Yoshizaki K and Nakamura H.
  TITLE     Hepatoma-derived growth factor stimulates cell growth after
            translocation to the nucleus by nuclear localization signals
  JOURNAL   J Biol Chem 277 (12), 10315-10322 (2002)
   PUBMED   11751870
  REMARK    GeneRIF: Hepatoma-derived growth factor stimulates cell growth
            after translocation to the nucleus
REFERENCE   9  (residues 1 to 256)
  AUTHORS   Wanschura S, Schoenmakers EF, Huysmans C, Bartnitzke S, Van de Ven
            WJ and Bullerdiek J.
  TITLE     Mapping of the gene encoding the human hepatoma-derived growth
            factor (HDGF) with homology to the high-mobility group (HMG)-1
            protein to Xq25
  JOURNAL   Genomics 32 (2), 298-300 (1996)
   PUBMED   8833162
REFERENCE   10 (residues 1 to 256)
  AUTHORS   Nakamura H, Izumoto Y, Kambe H, Kuroda T, Mori T, Kawamura K,
            Yamamoto H and Kishimoto T.
  TITLE     Molecular cloning of complementary DNA for a novel human
            hepatoma-derived growth factor. Its homology with high mobility
            group-1 protein
  JOURNAL   J Biol Chem 269 (40), 25143-25149 (1994)
   PUBMED   7929202
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590666.8.
            
            Summary: This gene encodes a member of the hepatoma-derived growth
            factor family. The encoded protein has mitogenic and DNA-binding
            activity and may play a role in cellular proliferation and
            differentiation. High levels of expression of this gene enhance the
            growth of many tumors. This gene was thought initially to be
            located on chromosome X; however, that location has been determined
            to correspond to a related pseudogene. Alternatively spliced
            transcript variants encoding distinct isoforms have been described.
            [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (2) differs uses an alternate
            in-frame splice junction compared to variant 4. The resulting
            isoform (b) has the same N- and C-termini but is shorter compared
            to isoform d.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.185740.1,
                                           SRR3476690.949313.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..256
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     Protein         1..256
                     /product="hepatoma-derived growth factor isoform b"
                     /note="high mobility group protein 1-like 2; hepatoma
                     derived growth factor; epididymis secretory sperm binding
                     protein"
                     /calculated_mol_wt=28133
     Region          43..112
                     /region_name="PWWP"
                     /note="PWWP (Pro-Trp-Trp-Pro) domain; cl02554"
                     /db_xref="CDD:445826"
     CDS             1..256
                     /gene="HDGF"
                     /gene_synonym="HMG1L2"
                     /coded_by="NM_001126050.2:86..856"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS44247.1"
                     /db_xref="GeneID:3068"
                     /db_xref="HGNC:HGNC:4856"
                     /db_xref="MIM:600339"
ORIGIN      
        1 mhpeggqfvp qllghllatk lkrfllskgg rraqipdvsr atphtidemp eaavkstank
       61 yqvfffgthe taflgpkdlf pyeeskekfg kpnkrkgfse glweiennpt vkasgyqssq
      121 kkscveepep epeaaegdgd kkgnaegssd eegklvidep akeknekgal krragdlled
      181 spkrpkeaen pegeekeaat leverplpme veknstpsep gsgrgppqee eeeedeeeea
      241 tkedaeapgi rdhesl
//
LOCUS       NP_001358518            1889 aa            linear   PRI 27-DEC-2022
DEFINITION  protein Wiz isoform 3 [Homo sapiens].
ACCESSION   NP_001358518 XP_005260061
VERSION     NP_001358518.1
DBSOURCE    REFSEQ: accession NM_001371589.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1889)
  AUTHORS   Conway E, Jerman E, Healy E, Ito S, Holoch D, Oliviero G, Deevy O,
            Glancy E, Fitzpatrick DJ, Mucha M, Watson A, Rice AM, Chammas P,
            Huang C, Pratt-Kelly I, Koseki Y, Nakayama M, Ishikura T, Streubel
            G, Wynne K, Hokamp K, McLysaght A, Ciferri C, Di Croce L, Cagney G,
            Margueron R, Koseki H and Bracken AP.
  TITLE     A Family of Vertebrate-Specific Polycombs Encoded by the LCOR/LCORL
            Genes Balance PRC2 Subtype Activities
  JOURNAL   Mol Cell 70 (3), 408-421 (2018)
   PUBMED   29628311
REFERENCE   2  (residues 1 to 1889)
  AUTHORS   Isbel L, Prokopuk L, Wu H, Daxinger L, Oey H, Spurling A, Lawther
            AJ, Hale MW and Whitelaw E.
  TITLE     Wiz binds active promoters and CTCF-binding sites and is required
            for normal behaviour in the mouse
  JOURNAL   Elife 5, e15082 (2016)
   PUBMED   27410475
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1889)
  AUTHORS   Simon JM, Parker JS, Liu F, Rothbart SB, Ait-Si-Ali S, Strahl BD,
            Jin J, Davis IJ, Mosley AL and Pattenden SG.
  TITLE     A Role for Widely Interspaced Zinc Finger (WIZ) in Retention of the
            G9a Methyltransferase on Chromatin
  JOURNAL   J Biol Chem 290 (43), 26088-26102 (2015)
   PUBMED   26338712
  REMARK    GeneRIF: Disrupting the association of G9a-GLP with chromatin by
            depleting WIZ resulted in altered gene expression and
            protein-protein interactions that were distinguishable from that of
            small molecule-based inhibition of G9a/GLP
REFERENCE   4  (residues 1 to 1889)
  AUTHORS   Bian C, Chen Q and Yu X.
  TITLE     The zinc finger proteins ZNF644 and WIZ regulate the G9a/GLP
            complex for gene repression
  JOURNAL   Elife 4, e05606 (2015)
   PUBMED   25789554
  REMARK    GeneRIF: Data indicate zinc finger proteins ZNF644 and WIZ as two
            core subunits in the histone-lysine N-methyltransferase G9a/GLP
            complex, and interact with the transcription activation domain of
            G9a and GLP.
            Erratum:[Elife. 2015;4. doi: 10.7554/eLife.08168. PMID: 25900010]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1889)
  AUTHORS   Lopez-Contreras AJ, Ruppen I, Nieto-Soler M, Murga M,
            Rodriguez-Acebes S, Remeseiro S, Rodrigo-Perez S, Rojas AM, Mendez
            J, Munoz J and Fernandez-Capetillo O.
  TITLE     A proteomic characterization of factors enriched at nascent DNA
            molecules
  JOURNAL   Cell Rep 3 (4), 1105-1116 (2013)
   PUBMED   23545495
REFERENCE   6  (residues 1 to 1889)
  AUTHORS   Ueda J, Tachibana M, Ikura T and Shinkai Y.
  TITLE     Zinc finger protein Wiz links G9a/GLP histone methyltransferases to
            the co-repressor molecule CtBP
  JOURNAL   J Biol Chem 281 (29), 20120-20128 (2006)
   PUBMED   16702210
REFERENCE   7  (residues 1 to 1889)
  AUTHORS   Baust C, Baillie GJ and Mager DL.
  TITLE     Insertional polymorphisms of ETn retrotransposons include a
            disruption of the wiz gene in C57BL/6 mice
  JOURNAL   Mamm Genome 13 (8), 423-428 (2002)
   PUBMED   12226707
REFERENCE   8  (residues 1 to 1889)
  AUTHORS   Matsumoto K, Ishii N, Yoshida S, Shiosaka S, Wanaka A and Tohyama
            M.
  TITLE     Molecular cloning and distinct developmental expression pattern of
            spliced forms of a novel zinc finger gene wiz in the mouse
            cerebellum
  JOURNAL   Brain Res Mol Brain Res 61 (1-2), 179-189 (1998)
   PUBMED   9795207
REFERENCE   9  (residues 1 to 1889)
  AUTHORS   Funke B, Puech A, Saint-Jore B, Pandita R, Skoultchi A and Morrow
            B.
  TITLE     Isolation and characterization of a human gene containing a nuclear
            localization signal from the critical region for velo-cardio-facial
            syndrome on 22q11
  JOURNAL   Genomics 53 (2), 146-154 (1998)
   PUBMED   9790763
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011492.8, AC007059.1 and AC006128.1.
            On Jul 18, 2019 this sequence version replaced XP_005260061.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000673675.1/ ENSP00000500993.1
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, expression, longest
                                         protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1889
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.12"
     Protein         1..1889
                     /product="protein Wiz isoform 3"
                     /note="protein Wiz; zinc finger protein 803;
                     widely-interspaced zinc finger-containing protein; widely
                     interspaced zinc finger motifs"
                     /calculated_mol_wt=203403
     Region          317..337
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(322,324,326,328..329,332..333,336,359,361,365..366,
                     369..370,373,408,410,412..413,418..419,422)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          354..374
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          403..423
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..1889
                     /gene="WIZ"
                     /gene_synonym="ZNF803"
                     /coded_by="NM_001371589.1:220..5889"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS92547.1"
                     /db_xref="GeneID:58525"
                     /db_xref="HGNC:HGNC:30917"
                     /db_xref="MIM:619715"
ORIGIN      
        1 megslagsla apdrpqgper lpgpapreni eggaeaaege ggifrstryl pvtkegprdi
       61 ldgrggisdg qphpglseal prvtsathri ssccwdggsl dfrpgsppph llghfpgtpd
      121 grgpwehplv qeagegilse rrfedsvivr tmkphaeleg srrflhhrge prllekhaqg
      181 rprfdwlqde deqgspqdag lhldlpaqpp plapfrrvfv pvedtpktld mavvggredl
      241 edleglaqps ewglptsase vatqtwtvns easverlqpl lppirtgpyl celleevaeg
      301 vaspdedede epavfpciec siyfkqkehl lehmsqhrra pgqeppadla placgecgwa
      361 fadptaleqh rqlhqasrek iieeiqklkq vpgdegrear lqcpkcvfgt nssrayvqha
      421 klhmreppgq ttkepfggss gagspspeas allyqpygaa vglsacvfcg fpapsesllr
      481 ehvrlvhahp hweedgeaye edpasqpgts qdahacfpdt avdyfgkaep slapmwrenp
      541 agydpslafg pgcqqlsird fplskpllhg tgqrplgrla fpstlastpy slqlgrnkst
      601 vhpqglgerr rpwseeeeee eeeedvvlts emdfspengv fsplatpsli pqaalelkqa
      661 frealqavea tqgqqqqlrg mvpivlvakl gpqvmaaarv pprlqpeelg lagahpldfl
      721 lldaplggpl gldtlldgdp amalkheerk cpycpdrfhn giglanhvrg hlnrvgvsyn
      781 vrhfisaeev kaierrfsfq kkkkkvanfd pgtfslmrcd fcgagfdtra glssharahl
      841 rdfgitnwel tvspinilqe llatsaaeqp psplgrepgg ppgsfltsrr prlpltvpfp
      901 ptwaedpgpa ygdglgseen amvamdlgsp slpkkslpvp galeqvasrl sskvaaevph
      961 gskqelqdlk aqslttcevc gacfetrkgl ssharshlrq lgvaesessg apidllyelv
     1021 kqkglpdahl glppglakks sslkevvaga prpgllslak pldapavnka iksppgfsak
     1081 glghppsspl lkktplalag sptpknpedk spqlslsprp aspkaqwpqs edegplnltl
     1141 dsdggreldc qlcgawfetr kglssharah lrhlgvsdpd akgspidvlh glirrdgvqi
     1201 rlpprrgala hpgrppptsa alsllppppp akkaklkaag maspwgkqdl saaaaagifw
     1261 asdvepspln lssgpepard ircefcgeff enrkglssha rshlrqmgvt ewyvngspid
     1321 tlreilkrrt qsrpggppnp pgpspkalak mmggagpgss learspsdlh isplakklpp
     1381 ppgsplghsp tasppptark mfpglaapsl pkklkpeqir veikremlpg alhgelhpse
     1441 gpwgapredm tplnlssrae pvrdircefc geffenrkgl ssharshlrq mgvtewsvng
     1501 spidtlreil kkkskpclik keppagdlap alaedgpptv apgpvqsplp lsplagrpgk
     1561 pgagpaqvpr elsltpitga kpsatgylgs vaakrplqed rllpaevkak tyiqtelpfk
     1621 aktlhektsh ssteaccelc glyfenrkal asharahlrq fgvtewcvng spietlsewi
     1681 khrpqkvgay rsyiqggrpf tkkfrsaghg rdsdkrpslg lapgglavvg rsaggepgpe
     1741 agraadgger plaasppgtv kaeehqrqni nkferrqarp pdasaargge dtndlqqkle
     1801 evrqppprvr pvpslvprpp qtslvkfvgn iytlkcrfce vefqgplsiq eewvrhlqrh
     1861 ilemnfskad pppeesqapq aqtaaaeap
//
LOCUS       NP_001369281             193 aa            linear   PRI 29-DEC-2022
DEFINITION  annexin-2 receptor [Homo sapiens].
ACCESSION   NP_001369281
VERSION     NP_001369281.1
DBSOURCE    REFSEQ: accession NM_001382352.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 193)
  AUTHORS   Hubel P, Urban C, Bergant V, Schneider WM, Knauer B, Stukalov A,
            Scaturro P, Mann A, Brunotte L, Hoffmann HH, Schoggins JW,
            Schwemmle M, Mann M, Rice CM and Pichlmair A.
  TITLE     A protein-interaction network of interferon-stimulated genes
            extends the innate immune system landscape
  JOURNAL   Nat Immunol 20 (4), 493-502 (2019)
   PUBMED   30833792
REFERENCE   2  (residues 1 to 193)
  AUTHORS   Guo T, Song H, Zhao Z, Qi Z and Zhao S.
  TITLE     Overexpression of Annexin A2 Receptor Inhibits Neovascularization
            via the Promotion of Kruppel-Like Transcription Factor 2
  JOURNAL   Cell Physiol Biochem 46 (4), 1617-1627 (2018)
   PUBMED   29694949
  REMARK    GeneRIF: Overexpression of AX2R significantly inhibited cell
            proliferation, migration and tube formation in both types of
            endothelial cells and increased the expression of KLF2, mediating
            VEGF and VEGFR2.
REFERENCE   3  (residues 1 to 193)
  AUTHORS   Zhang J, Kong L, Guo S, Bu M, Guo Q, Xiong Y, Zhu N, Qiu C, Yan X,
            Chen Q, Zhang H, Zhuang J, Wang Q, Zhang SS, Shen Y and Chen M.
  TITLE     hnRNPs and ELAVL1 cooperate with uORFs to inhibit protein
            translation
  JOURNAL   Nucleic Acids Res 45 (5), 2849-2864 (2017)
   PUBMED   27789685
REFERENCE   4  (residues 1 to 193)
  AUTHORS   Zhang Y, Song H, Guo T, Zhu Y, Tang H, Qi Z, Zhao P and Zhao S.
  TITLE     Overexpression of Annexin II Receptor-Induced Autophagy Protects
            Against Apoptosis in Uveal Melanoma Cells
  JOURNAL   Cancer Biother Radiopharm 31 (4), 145-151 (2016)
   PUBMED   27183438
  REMARK    GeneRIF: Data highlighted the crucial role of AXIIR in reducing
            Mum2C cell viability through inducing apoptosis, while autophagy
            played a protective role in this process.
REFERENCE   5  (residues 1 to 193)
  AUTHORS   Song H, Pan D, Sun W, Gu C, Zhang Y, Zhao P, Qi Z and Zhao S.
  TITLE     SiRNA directed against annexin II receptor inhibits angiogenesis
            via suppressing MMP2 and MMP9 expression
  JOURNAL   Cell Physiol Biochem 35 (3), 875-884 (2015)
   PUBMED   25633185
  REMARK    GeneRIF: these subsequent effects might be via suppressing the
            expression of matrix metalloproteinase 2 and matrix
            metalloproteinase 9. ... AXIIR participates in angiogenesis, and
            may be a potential therapeutic target for angiogenesis related
            diseases
REFERENCE   6  (residues 1 to 193)
  AUTHORS   Xiong Y, Fan C, Kong L, Dong L, Zhu N, Zhang J, Wang L, Qin T, Shen
            Y and Chen M.
  TITLE     Annexin II receptor induces apoptosis independent of Annexin II
  JOURNAL   Apoptosis 18 (8), 925-939 (2013)
   PUBMED   23640736
  REMARK    GeneRIF: AXIIR acts as a novel inducer of apoptosis in human cells,
            partially through activating Caspase-8.
REFERENCE   7  (residues 1 to 193)
  AUTHORS   D'Souza S, Kurihara N, Shiozawa Y, Joseph J, Taichman R, Galson DL
            and Roodman GD.
  TITLE     Annexin II interactions with the annexin II receptor enhance
            multiple myeloma cell adhesion and growth in the bone marrow
            microenvironment
  JOURNAL   Blood 119 (8), 1888-1896 (2012)
   PUBMED   22223826
  REMARK    GeneRIF: Results show that AXII and AXIIR play important roles in
            multiple myeloma (MM) and that targeting the AXII/AXIIR axis may be
            a novel therapeutic approach for MM.
REFERENCE   8  (residues 1 to 193)
  AUTHORS   Shiozawa Y, Havens AM, Jung Y, Ziegler AM, Pedersen EA, Wang J,
            Wang J, Lu G, Roodman GD, Loberg RD, Pienta KJ and Taichman RS.
  TITLE     Annexin II/annexin II receptor axis regulates adhesion, migration,
            homing, and growth of prostate cancer
  JOURNAL   J Cell Biochem 105 (2), 370-380 (2008)
   PUBMED   18636554
  REMARK    GeneRIF: annexin II and its receptor axis play a central role in
            prostate cancer metastasis, and prostate cancer utilizes the
            hematopoietic stem cell homing mechanisms to gain access to the
            niche.
REFERENCE   9  (residues 1 to 193)
  AUTHORS   Lu G, Maeda H, Reddy SV, Kurihara N, Leach R, Anderson JL and
            Roodman GD.
  TITLE     Cloning and characterization of the annexin II receptor on human
            marrow stromal cells
  JOURNAL   J Biol Chem 281 (41), 30542-30550 (2006)
   PUBMED   16895901
  REMARK    GeneRIF: analysis of the annexin II receptor on human marrow
            stromal cells
REFERENCE   10 (residues 1 to 193)
  AUTHORS   Menaa C, Devlin RD, Reddy SV, Gazitt Y, Choi SJ and Roodman GD.
  TITLE     Annexin II increases osteoclast formation by stimulating the
            proliferation of osteoclast precursors in human marrow cultures
  JOURNAL   J Clin Invest 103 (11), 1605-1613 (1999)
   PUBMED   10359570
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC025171.8.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.4229663.1,
                                           SRR14038196.3434208.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2163105 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..193
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p12"
     Protein         1..193
                     /product="annexin-2 receptor"
                     /note="annexin II receptor"
                     /calculated_mol_wt=21550
     Region          2..193
                     /region_name="ANXA2R"
                     /note="Annexin-2 receptor; pfam15721"
                     /db_xref="CDD:406212"
     Region          78..111
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3ZCQ2.2)"
     CDS             1..193
                     /gene="ANXA2R"
                     /gene_synonym="AX2R; AXIIR; C5orf39"
                     /coded_by="NM_001382352.1:1498..2079"
                     /db_xref="CCDS:CCDS34153.1"
                     /db_xref="GeneID:389289"
                     /db_xref="HGNC:HGNC:33463"
                     /db_xref="MIM:611296"
ORIGIN      
        1 meqhflgcvk rawdsaevap epqpppivss edrgpwplpl ypvlgeysld scdlgllssp
       61 cwrlpgvywq nglspgvqst lepstakpte fswpgtqkqq eapveevgqa eepdrlrlqq
      121 lpwssplhpw drqqdtevcd sgcllerrhp palqpwrhlp gfsdclewil rvgfaafsvl
      181 waccsricga kqp
//
LOCUS       NP_001273731             135 aa            linear   PRI 29-DEC-2022
DEFINITION  N-terminal Xaa-Pro-Lys N-methyltransferase 1 isoform c [Homo
            sapiens].
ACCESSION   NP_001273731
VERSION     NP_001273731.1
DBSOURCE    REFSEQ: accession NM_001286802.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 135)
  AUTHORS   Catlin JP, Marziali LN, Rein B, Yan Z, Feltri ML and Schaner Tooley
            CE.
  TITLE     Age-related neurodegeneration and cognitive impairments of NRMT1
            knockout mice are preceded by misregulation of RB and abnormal
            neural stem cell development
  JOURNAL   Cell Death Dis 12 (11), 1014 (2021)
   PUBMED   34711807
  REMARK    GeneRIF: Age-related neurodegeneration and cognitive impairments of
            NRMT1 knockout mice are preceded by misregulation of RB and
            abnormal neural stem cell development.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 135)
  AUTHORS   Zhang J, Song H, Chen C, Chen L, Dai Y, Sun PH, Zou C and Wang X.
  TITLE     Methyltransferase-like protein 11A promotes migration of cervical
            cancer cells via up-regulating ELK3
  JOURNAL   Pharmacol Res 172, 105814 (2021)
   PUBMED   34450313
  REMARK    GeneRIF: Methyltransferase-like protein 11A promotes migration of
            cervical cancer cells via up-regulating ELK3.
REFERENCE   3  (residues 1 to 135)
  AUTHORS   Bade D, Cai Q, Li L, Yu K, Dai X, Miao W and Wang Y.
  TITLE     Modulation of N-terminal methyltransferase 1 by an
            N6-methyladenosine-based epitranscriptomic mechanism
  JOURNAL   Biochem Biophys Res Commun 546, 54-58 (2021)
   PUBMED   33561748
  REMARK    GeneRIF: Modulation of N-terminal methyltransferase 1 by an
            N(6)-methyladenosine-based epitranscriptomic mechanism.
REFERENCE   4  (residues 1 to 135)
  AUTHORS   Chen D, Dong C, Dong G, Srinivasan K, Min J, Noinaj N and Huang R.
  TITLE     Probing the Plasticity in the Active Site of Protein N-terminal
            Methyltransferase 1 Using Bisubstrate Analogues
  JOURNAL   J Med Chem 63 (15), 8419-8431 (2020)
   PUBMED   32605369
  REMARK    GeneRIF: Probing the Plasticity in the Active Site of Protein
            N-terminal Methyltransferase 1 Using Bisubstrate Analogues.
REFERENCE   5  (residues 1 to 135)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 135)
  AUTHORS   Tooley CE, Petkowski JJ, Muratore-Schroeder TL, Balsbaugh JL,
            Shabanowitz J, Sabat M, Minor W, Hunt DF and Macara IG.
  TITLE     NRMT is an alpha-N-methyltransferase that methylates RCC1 and
            retinoblastoma protein
  JOURNAL   Nature 466 (7310), 1125-1128 (2010)
   PUBMED   20668449
  REMARK    GeneRIF: discovery of the first alpha-N-methyltransferase, which we
            named N-terminal RCC1 methyltransferase (NRMT).
REFERENCE   7  (residues 1 to 135)
  AUTHORS   Webb KJ, Lipson RS, Al-Hadid Q, Whitelegge JP and Clarke SG.
  TITLE     Identification of protein N-terminal methyltransferases in yeast
            and humans
  JOURNAL   Biochemistry 49 (25), 5225-5235 (2010)
   PUBMED   20481588
REFERENCE   8  (residues 1 to 135)
  AUTHORS   Lehner B and Sanderson CM.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   9  (residues 1 to 135)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 135)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY058177.1, AK298840.1 and AL590369.18.
            
            Summary: The METTL11A gene encodes an N-terminal methyltransferase
            for the RAN (MIM 601179) guanine nucleotide exchange factor
            regulator of chromosome condensation 1 (RCC1; MIM 179710). METTL11A
            enzyme alpha-N-methylates other protein targets such as SET (MIM
            600960) and RB (MIM 180200).[supplied by OMIM, Nov 2010].
            
            Transcript Variant: This variant (8) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream in-frame start codon, compared to variant 1. The encoded
            isoform (c) is shorter at the N-terminus, compared to isoform a.
            Both variants 8 and 9 encode isoform c.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HY058177.1, SRR3476690.359514.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2151887
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..135
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     Protein         1..135
                     /product="N-terminal Xaa-Pro-Lys N-methyltransferase 1
                     isoform c"
                     /EC_number="2.1.1.244"
                     /note="N-terminal RCC1 methyltransferase; alpha N-terminal
                     protein methyltransferase 1A; methyltransferase-like
                     protein 11A; X-Pro-Lys N-terminal protein
                     methyltransferase 1A"
                     /calculated_mol_wt=15392
     Region          <1..135
                     /region_name="AdoMet_MTases"
                     /note="S-adenosylmethionine-dependent methyltransferases
                     (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes
                     that use S-adenosyl-L-methionine (SAM or AdoMet) as a
                     substrate for methyltransfer, creating the product
                     S-adenosyl-L-homocysteine (AdoHcy); cl17173"
                     /db_xref="CDD:450167"
     CDS             1..135
                     /gene="NTMT1"
                     /gene_synonym="AD-003; C9orf32; HOMT1A; METTL11A; NRMT;
                     NRMT1; NTM1A"
                     /coded_by="NM_001286802.2:262..669"
                     /note="isoform c is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS75918.1"
                     /db_xref="GeneID:28989"
                     /db_xref="HGNC:HGNC:23373"
                     /db_xref="MIM:613560"
ORIGIN      
        1 mvditedflv qaktylgeeg krvrnyfccg lqdftpepds ydviwiqwvi ghltdqhlae
       61 flrrckgslr pngiivikdn maqegvildd vdssvcrdld vvrriicsag lsllaeerqe
      121 nlpdeiyhvy sfalr
//
LOCUS       NP_001381395             886 aa            linear   PRI 31-DEC-2022
DEFINITION  synaptotagmin-like protein 2 isoform dd [Homo sapiens].
ACCESSION   NP_001381395
VERSION     NP_001381395.1
DBSOURCE    REFSEQ: accession NM_001394466.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 886)
  AUTHORS   Francis CR, Claflin S and Kushner EJ.
  TITLE     Synaptotagmin-Like Protein 2a Regulates Angiogenic Lumen Formation
            via Weibel-Palade Body Apical Secretion of Angiopoietin-2
  JOURNAL   Arterioscler Thromb Vasc Biol 41 (6), 1972-1986 (2021)
   PUBMED   33853352
  REMARK    GeneRIF: Synaptotagmin-Like Protein 2a Regulates Angiogenic Lumen
            Formation via Weibel-Palade Body Apical Secretion of
            Angiopoietin-2.
REFERENCE   2  (residues 1 to 886)
  AUTHORS   Sung HY, Han J, Ju W and Ahn JH.
  TITLE     Synaptotagmin-like protein 2 gene promotes the metastatic potential
            in ovarian cancer
  JOURNAL   Oncol Rep 36 (1), 535-541 (2016)
   PUBMED   27220283
  REMARK    GeneRIF: Overexpression of SYTL2 promoted metastatic potential.
REFERENCE   3  (residues 1 to 886)
  AUTHORS   Yasuda T and Fukuda M.
  TITLE     Slp2-a controls renal epithelial cell size through regulation of
            Rap-ezrin signaling independently of Rab27
  JOURNAL   J Cell Sci 127 (Pt 3), 557-570 (2014)
   PUBMED   24284068
REFERENCE   4  (residues 1 to 886)
  AUTHORS   Galvez-Santisteban M, Rodriguez-Fraticelli AE, Bryant DM,
            Vergarajauregui S, Yasuda T, Banon-Rodriguez I, Bernascone I, Datta
            A, Spivak N, Young K, Slim CL, Brakeman PR, Fukuda M, Mostov KE and
            Martin-Belmonte F.
  TITLE     Synaptotagmin-like proteins control the formation of a single
            apical membrane domain in epithelial cells
  JOURNAL   Nat Cell Biol 14 (8), 838-849 (2012)
   PUBMED   22820376
REFERENCE   5  (residues 1 to 886)
  AUTHORS   Ho JR, Chapeaublanc E, Kirkwood L, Nicolle R, Benhamou S, Lebret T,
            Allory Y, Southgate J, Radvanyi F and Goud B.
  TITLE     Deregulation of Rab and Rab effector genes in bladder cancer
  JOURNAL   PLoS One 7 (6), e39469 (2012)
   PUBMED   22724020
REFERENCE   6  (residues 1 to 886)
  AUTHORS   Menasche G, Menager MM, Lefebvre JM, Deutsch E, Athman R, Lambert
            N, Mahlaoui N, Court M, Garin J, Fischer A and de Saint Basile G.
  TITLE     A newly identified isoform of Slp2a associates with Rab27a in
            cytotoxic T cells and participates to cytotoxic granule secretion
  JOURNAL   Blood 112 (13), 5052-5062 (2008)
   PUBMED   18812475
  REMARK    GeneRIF: Rab27a recruits Slp2a-hem on vesicular structures in
            peripheral CTLs and following CTL-target cell conjugate formation,
            the Slp2a-hem/Rab27a complex colocalizes with perforin-containing
            granules at the immunologic synapse
REFERENCE   7  (residues 1 to 886)
  AUTHORS   Fukuda M, Saegusa C and Mikoshiba K.
  TITLE     Novel splicing isoforms of synaptotagmin-like proteins 2 and 3:
            identification of the Slp homology domain
  JOURNAL   Biochem Biophys Res Commun 283 (2), 513-519 (2001)
   PUBMED   11327731
REFERENCE   8  (residues 1 to 886)
  AUTHORS   Fukuda M and Mikoshiba K.
  TITLE     Synaptotagmin-like protein 1-3: a novel family of C-terminal-type
            tandem C2 proteins
  JOURNAL   Biochem Biophys Res Commun 281 (5), 1226-1233 (2001)
   PUBMED   11243866
REFERENCE   9  (residues 1 to 886)
  AUTHORS   Duncan RR, Shipston MJ and Chow RH.
  TITLE     Double C2 protein. A review
  JOURNAL   Biochimie 82 (5), 421-426 (2000)
   PUBMED   10865129
  REMARK    Review article
REFERENCE   10 (residues 1 to 886)
  AUTHORS   Nalefski EA and Falke JJ.
  TITLE     The C2 domain calcium-binding motif: structural and functional
            diversity
  JOURNAL   Protein Sci 5 (12), 2375-2390 (1996)
   PUBMED   8976547
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000974.5 and AP000642.5.
            
            Summary: The protein encoded by this gene is a synaptotagmin-like
            protein (SLP) that belongs to a C2 domain-containing protein
            family. The SLP homology domain (SHD) of this protein has been
            shown to specifically bind the GTP-bound form of Ras-related
            protein Rab-27A (RAB27A). This protein plays a role in
            RAB27A-dependent vesicle trafficking and controls melanosome
            distribution in the cell periphery. Alternative splicing results in
            multiple transcript variants encoding distinct isoforms.[provided
            by RefSeq, Jun 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.232891.1,
                                           SRR11853563.6128.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..886
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1"
     Protein         1..886
                     /product="synaptotagmin-like protein 2 isoform dd"
                     /note="chromosome 11 synaptotagmin; breast
                     cancer-associated antigen SGA-72M; exophilin-4;
                     synaptotagmin-like protein 2; protein phosphatase 1,
                     regulatory subunit 151"
                     /calculated_mol_wt=99081
     Region          581..708
                     /region_name="C2"
                     /note="C2 domain; cl14603"
                     /db_xref="CDD:449331"
     Region          721..877
                     /region_name="C2B_SLP_1-2-3-4"
                     /note="C2 domain second repeat present in
                     Synaptotagmin-like proteins 1-4; cd04020"
                     /db_xref="CDD:175987"
     CDS             1..886
                     /gene="SYTL2"
                     /gene_synonym="CHR11SYT; EXO4; PPP1R151; SGA72M; SLP2;
                     SLP2A"
                     /coded_by="NM_001394466.1:232..2892"
                     /note="isoform dd is encoded by transcript variant oo"
                     /db_xref="GeneID:54843"
                     /db_xref="HGNC:HGNC:15585"
                     /db_xref="MIM:612880"
ORIGIN      
        1 msgqwfyeak akrhrdkihg adiirasmrk krpqiaaeqs kdrengakes wvnnvnkdaf
       61 lppelagvve epeedaapas psssvvnpas svidmsqent rkpnvspekr knpfnssklp
      121 eghssqqtkn eqskngrtgl fqtskedels eskekstvad tsiqkleksk qtlpglsngs
      181 qikapipkar kmiykstdln kddnqsfprq rtdslkarga prgilkrnss ssstdsetlr
      241 ynhnfepksk ivspgltihe risekehsle dnsspnslep lkhvrfsavk delpqspgli
      301 hgrevgefsv lesdrlkngm edagdteefq sdpkpsqyrk pslfhqstss pyvsksethq
      361 pmtsgsfpin glhshsevlt arpqsmensp tinepkdkss eltrlesvlp rspadelshc
      421 vepepsqvpg gssrdrqqgs eeepspvlkt lersaarkmp sksledissd ssnqakvdnq
      481 peelvrsaed vstvptqpdn pfshpdklkr msksvpaflq desddretdt asessyqlsr
      541 hkkspssltn lssssgmtsl ssvsgsvmsv ysgdfgnlev kgniqfaiey veslkelhvf
      601 vaqckdlaaa dvkkqrsdpy vkayllpdkg kmgkkktlvv kktlnpvyne ilrykiekqi
      661 lktqklnlsi whrdtfkrns flgeveldle twdwdnkqnk qlrwyplkrk tapvaleaen
      721 rgemklalqy vpepvpgkkl pttgevhiwv kecldlpllr gshlnsfvkc tilpdtsrks
      781 rqktravgkt tnpifnhtmv ydgfrpedlm eacveltvwd hykltnqflg glrigfgtgk
      841 sygtevdwmd stseevalwe kmvnspntwi eatlplrmll iakisk
//
LOCUS       NP_001392998             510 aa            linear   PRI 31-DEC-2022
DEFINITION  sodium- and chloride-dependent transporter XTRP3 isoform 6 [Homo
            sapiens].
ACCESSION   NP_001392998
VERSION     NP_001392998.1
DBSOURCE    REFSEQ: accession NM_001406069.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 510)
  AUTHORS   Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA,
            Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X,
            Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang
            B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P,
            Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe
            F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch
            C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras
            A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M,
            Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers
            C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM,
            Elliott P, Walsh T, Tenesa A, Fawkes A, Murphy L, Rowan K, Ponting
            CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry
            SC, Moutsianas L, Law A, Caulfield MJ and Baillie JK.
  CONSRTM   GenOMICC investigators; 23andMe investigators; COVID-19 Human
            Genetics Initiative
  TITLE     Whole-genome sequencing reveals host factors underlying critical
            COVID-19
  JOURNAL   Nature 607 (7917), 97-103 (2022)
   PUBMED   35255492
REFERENCE   2  (residues 1 to 510)
  AUTHORS   Semiz S.
  TITLE     SIT1 transporter as a potential novel target in treatment of
            COVID-19
  JOURNAL   Biomol Concepts 12 (1), 156-163 (2021)
   PUBMED   34969185
  REMARK    GeneRIF: SIT1 transporter as a potential novel target in treatment
            of COVID-19.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 510)
  AUTHORS   Kasela S, Daniloski Z, Bollepalli S, Jordan TX, tenOever BR,
            Sanjana NE and Lappalainen T.
  TITLE     Integrative approach identifies SLC6A20 and CXCR6 as putative
            causal genes for the COVID-19 GWAS signal in the 3p21.31 locus
  JOURNAL   Genome Biol 22 (1), 242 (2021)
   PUBMED   34425859
  REMARK    GeneRIF: Integrative approach identifies SLC6A20 and CXCR6 as
            putative causal genes for the COVID-19 GWAS signal in the 3p21.31
            locus.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 510)
  AUTHORS   Yao Y, Ye F, Li K, Xu P, Tan W, Feng Q and Rao S.
  TITLE     Genome and epigenome editing identify CCR9 and SLC6A20 as target
            genes at the 3p21.31 locus associated with severe COVID-19
  JOURNAL   Signal Transduct Target Ther 6 (1), 85 (2021)
   PUBMED   33619245
  REMARK    GeneRIF: Genome and epigenome editing identify CCR9 and SLC6A20 as
            target genes at the 3p21.31 locus associated with severe COVID-19.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 510)
  AUTHORS   Bae M, Roh JD, Kim Y, Kim SS, Han HM, Yang E, Kang H, Lee S, Kim
            JY, Kang R, Jung H, Yoo T, Kim H, Kim D, Oh H, Han S, Kim D, Han J,
            Bae YC, Kim H, Ahn S, Chan AM, Lee D, Kim JW and Kim E.
  TITLE     SLC6A20 transporter: a novel regulator of brain glycine homeostasis
            and NMDAR function
  JOURNAL   EMBO Mol Med 13 (2), e12632 (2021)
   PUBMED   33428810
REFERENCE   6  (residues 1 to 510)
  AUTHORS   Takanaga H, Mackenzie B, Suzuki Y and Hediger MA.
  TITLE     Identification of mammalian proline transporter SIT1 (SLC6A20) with
            characteristics of classical system imino
  JOURNAL   J Biol Chem 280 (10), 8974-8984 (2005)
   PUBMED   15632147
REFERENCE   7  (residues 1 to 510)
  AUTHORS   Kanei-Ishii C, Nomura T, Tanikawa J, Ichikawa-Iwata E and Ishii S.
  TITLE     Differential sensitivity of v-Myb and c-Myb to Wnt-1-induced
            protein degradation
  JOURNAL   J Biol Chem 279 (43), 44582-44589 (2004)
   PUBMED   15308626
REFERENCE   8  (residues 1 to 510)
  AUTHORS   Kiss H, Kedra D, Kiss C, Kost-Alimova M, Yang Y, Klein G, Imreh S
            and Dumanski JP.
  TITLE     The LZTFL1 gene is a part of a transcriptional map covering 250 kb
            within the common eliminated region 1 (C3CER1) in 3p21.3
  JOURNAL   Genomics 73 (1), 10-19 (2001)
   PUBMED   11352561
REFERENCE   9  (residues 1 to 510)
  AUTHORS   Nash SR, Giros B, Kingsmore SF, Kim KM, el-Mestikawy S, Dong Q,
            Fumagalli F, Seldin MF and Caron MG.
  TITLE     Cloning, gene structure and genomic localization of an orphan
            transporter from mouse kidney with six alternatively-spliced
            isoforms
  JOURNAL   Recept Channels 6 (2), 113-128 (1998)
   PUBMED   9932288
REFERENCE   10 (residues 1 to 510)
  AUTHORS   Stevens,B.R. and Wright,E.M.
  TITLE     Kinetics of the intestinal brush border proline (Imino) carrier
  JOURNAL   J Biol Chem 262 (14), 6546-6551 (1987)
   PUBMED   3571270
  REMARK    GeneRIF: Characterization and substrate specificity of the Na+
            coupled IMINO transport system in apical brush border membranes of
            epithelial cells. Identically found in kidney proximal tubule.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC098476.2.
            
            Summary: Transport of small hydrophilic substances across cell
            membranes is mediated by substrate-specific transporter proteins
            which have been classified into several families of related genes.
            The protein encoded by this gene belongs to the
            sodium:neurotransmitter symporter (SNF) family and functions as a
            proline transporter expressed in kidney and small intestine.
            Mutations in this gene are associated with Hyperglycinuria and
            Iminoglycinuria. [provided by RefSeq, Jul 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.872259.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
                                   variant(s)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..510
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..510
                     /product="sodium- and chloride-dependent transporter XTRP3
                     isoform 6"
                     /note="orphan transporter XT3; sodium/imino-acid
                     transporter 1; solute carrier family 6 (proline IMINO
                     transporter), member 20; solute carrier family 6
                     (neurotransmitter transporter), member 20; X transporter
                     protein 3; sodium- and chloride-dependent transporter
                     XTRP3; neurotransmitter transporter RB21A; transporter
                     rB21A homolog; sodium-dependent imino acid transporter 1"
                     /calculated_mol_wt=56978
     Region          2..506
                     /region_name="SLC5-6-like_sbd"
                     /note="Solute carrier families 5 and 6-like; solute
                     binding domain; cl00456"
                     /db_xref="CDD:444915"
     Site            order(20,23,365,368..369)
                     /site_type="other"
                     /note="Na binding site [ion binding]"
                     /db_xref="CDD:271356"
     CDS             1..510
                     /gene="SLC6A20"
                     /gene_synonym="IMINO; SIT1; XT3; Xtrp3"
                     /coded_by="NM_001406069.1:118..1650"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="GeneID:54716"
                     /db_xref="HGNC:HGNC:30927"
                     /db_xref="MIM:605616"
ORIGIN      
        1 mekarplwan slqfvfacis yavglgnvwr fpylcqmygg gsflvpyiim livegmplly
       61 lelavgqrmr qgsigawrti spylsgvgva svvvsfflsm yynvinawaf wylfhsfqdp
      121 lpwsvcplng nhtgydeece kasstqyfwy rktlnispsl qenggvqwep alclllawlv
      181 vylcilrgte stgkieqlan pkawinaatq iffslglgfg sliafasyne psnncqkhai
      241 ivslinsfts ifasivtfsi ygfkatfnye nclkkvslll tntfdledgf ltasnleqvk
      301 gylasaypsk ysemfpqikn csleseldta vqgtglafiv yteaiknmev sqlwsvlyff
      361 mllmlgigsm lgntaailtp ltdskiissh lpkeaisglv clvncaigmv ftmeagnywf
      421 difndyaatl slllivlvet iavcyvyglr rfesdlkamt gravswywkv mwagvsplli
      481 vslfvfylsd yiltgtlkyq awdasqddkl
//
LOCUS       NP_005377                 81 aa            linear   PRI 01-JAN-2023
DEFINITION  neuronatin isoform alpha [Homo sapiens].
ACCESSION   NP_005377
VERSION     NP_005377.1
DBSOURCE    REFSEQ: accession NM_005386.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 81)
  AUTHORS   Deng Y, Lu L, Liang X, Li J, Zhu D, Huang H, Zhang Y, Zhang X, Chen
            Y, Liu X and Fu Y.
  TITLE     DNA methylation-mediated silencing of Neuronatin promotes
            hepatocellular carcinoma proliferation through the PI3K-Akt
            signaling pathway
  JOURNAL   Life Sci 312, 121266 (2023)
   PUBMED   36473542
  REMARK    GeneRIF: DNA methylation-mediated silencing of Neuronatin promotes
            hepatocellular carcinoma proliferation through the PI3K-Akt
            signaling pathway.
REFERENCE   2  (residues 1 to 81)
  AUTHORS   Azmi MB, Naeem U, Saleem A, Jawed A, Usman H, Qureshi SA and Azim
            MK.
  TITLE     In silico identification of the rare-coding pathogenic mutations
            and structural modeling of human NNAT gene associated with anorexia
            nervosa
  JOURNAL   Eat Weight Disord 27 (7), 2725-2744 (2022)
   PUBMED   35655118
  REMARK    GeneRIF: In silico identification of the rare-coding pathogenic
            mutations and structural modeling of human NNAT gene associated
            with anorexia nervosa.
REFERENCE   3  (residues 1 to 81)
  AUTHORS   Pieper W, Ignatov A, Kalinski T, Haybaeck J, Czapiewski P and Nass
            N.
  TITLE     The predictive potential of Neuronatin for neoadjuvant chemotherapy
            of breast cancer
  JOURNAL   Cancer Biomark 32 (2), 161-173 (2021)
   PUBMED   34092612
  REMARK    GeneRIF: The predictive potential of Neuronatin for neoadjuvant
            chemotherapy of breast cancer.
REFERENCE   4  (residues 1 to 81)
  AUTHORS   Lombardi L, Blanchet C, Poirier K, Lebrun N, Ramoz N, Rose Moro M,
            Gorwood P and Bienvenu T.
  TITLE     Anorexia nervosa is associated with Neuronatin variants
  JOURNAL   Psychiatr Genet 29 (4), 103-110 (2019)
   PUBMED   30933048
  REMARK    GeneRIF: NNAT variants and NNAT expression changes may be
            associated with susceptibility to eating disorders such as anorexia
            nervosa.
REFERENCE   5  (residues 1 to 81)
  AUTHORS   Oczko-Wojciechowska M, Swierniak M, Krajewska J, Kowalska M, Kowal
            M, Stokowy T, Wojtas B, Rusinek D, Pawlaczek A, Czarniecka A,
            Szpak-Ulczok S, Gawlik T, Chmielik E, Tyszkiewicz T, Nikiel B,
            Lange D, Jarzab M, Wiench M and Jarzab B.
  TITLE     Differences in the transcriptome of medullary thyroid cancer
            regarding the status and type of RET gene mutations
  JOURNAL   Sci Rep 7, 42074 (2017)
   PUBMED   28181547
  REMARK    GeneRIF: The authors found a significant association between the
            localization of RET mutations and the expression of three genes:
            NNAT (suggested to be a tumour suppressor gene), CDC14B (involved
            in cell cycle control) and NTRK3 (tyrosine receptor kinase that
            undergoes rearrangement in papillary thyroid cancer) in patients
            with medullary thyroid cancer.
            Erratum:[Sci Rep. 2017 Mar 15;7:44347. PMID: 28294124]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 81)
  AUTHORS   Evans HK, Wylie AA, Murphy SK and Jirtle RL.
  TITLE     The neuronatin gene resides in a 'micro-imprinted' domain on human
            chromosome 20q11.2
  JOURNAL   Genomics 77 (1-2), 99-104 (2001)
   PUBMED   11543638
REFERENCE   7  (residues 1 to 81)
  AUTHORS   John RM, Aparicio SA, Ainscough JF, Arney KL, Khosla S, Hawker K,
            Hilton KJ, Barton SC and Surani MA.
  TITLE     Imprinted expression of neuronatin from modified BAC transgenes
            reveals regulation by distinct and distant enhancers
  JOURNAL   Dev Biol 236 (2), 387-399 (2001)
   PUBMED   11476579
REFERENCE   8  (residues 1 to 81)
  AUTHORS   Usui H, Morii K, Tanaka R, Tamura T, Washiyama K, Ichikawa T and
            Kumanishi T.
  TITLE     cDNA cloning and mRNA expression analysis of the human neuronatin.
            High level expression in human pituitary gland and pituitary
            adenomas
  JOURNAL   J Mol Neurosci 9 (1), 55-60 (1997)
   PUBMED   9356927
REFERENCE   9  (residues 1 to 81)
  AUTHORS   Dou D and Joseph R.
  TITLE     Cloning of human neuronatin gene and its localization to
            chromosome-20q 11.2-12: the deduced protein is a novel
            'proteolipid'
  JOURNAL   Brain Res 723 (1-2), 8-22 (1996)
   PUBMED   8813377
REFERENCE   10 (residues 1 to 81)
  AUTHORS   Dou D and Joseph R.
  TITLE     Structure and organization of the human neuronatin gene
  JOURNAL   Genomics 33 (2), 292-297 (1996)
   PUBMED   8660979
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY021161.1 and BC001768.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a proteolipid that may
            be involved in the regulation of ion channels during brain
            development. The encoded protein may also play a role in forming
            and maintaining the structure of the nervous system. This gene is
            found within an intron of another gene, bladder cancer associated
            protein, but on the opposite strand. This gene is imprinted and is
            expressed only from the paternal allele. [provided by RefSeq, Apr
            2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (alpha).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1160039.1,
                                           SRR3476690.374212.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000649451.1/ ENSP00000497164.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..81
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     Protein         1..81
                     /product="neuronatin isoform alpha"
                     /calculated_mol_wt=9106
     CDS             1..81
                     /gene="NNAT"
                     /gene_synonym="Peg5"
                     /coded_by="NM_005386.4:83..328"
                     /note="isoform alpha is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13296.1"
                     /db_xref="GeneID:4826"
                     /db_xref="HGNC:HGNC:7860"
                     /db_xref="MIM:603106"
ORIGIN      
        1 maavaaasae lliigwyifr vllqvflecc iywvgfafrn ppgtqpiars evfryslqkl
       61 aytvsrtgrq vlgerrqrap n
//
LOCUS       NP_001129523            1059 aa            linear   PRI 22-JAN-2023
DEFINITION  leucine-rich repeats and immunoglobulin-like domains protein 3
            isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001129523
VERSION     NP_001129523.1
DBSOURCE    REFSEQ: accession NM_001136051.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1059)
  AUTHORS   Li Y, Wang W, Hou X, Huang W, Zhang P, He Y, Wang B, Duan Q, Mao F
            and Guo D.
  TITLE     Glioma-derived LRIG3 interacts with NETO2 in tumor-associated
            macrophages to modulate microenvironment and suppress tumor growth
  JOURNAL   Cell Death Dis 14 (1), 28 (2023)
   PUBMED   36639372
  REMARK    GeneRIF: Glioma-derived LRIG3 interacts with NETO2 in
            tumor-associated macrophages to modulate microenvironment and
            suppress tumor growth.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1059)
  AUTHORS   M Serag El-Dien M, Fathy Mahmoud S, Alhanafy AM, Mohamed Zanaty F
            and Shawky Holah N.
  TITLE     Prognostic significance of LRIG2 and LRIG3 proteins in urothelial
            bladder carcinoma
  JOURNAL   J Immunoassay Immunochem 43 (3), 308-332 (2022)
   PUBMED   34839782
  REMARK    GeneRIF: Prognostic significance of LRIG2 and LRIG3 proteins in
            urothelial bladder carcinoma.
REFERENCE   3  (residues 1 to 1059)
  AUTHORS   Herdenberg C, Mutie PM, Billing O, Abdullah A, Strawbridge RJ,
            Dahlman I, Tuck S, Holmlund C, Arner P, Henriksson R, Franks PW and
            Hedman H.
  TITLE     LRIG proteins regulate lipid metabolism via BMP signaling and
            affect the risk of type 2 diabetes
  JOURNAL   Commun Biol 4 (1), 90 (2021)
   PUBMED   33469151
  REMARK    GeneRIF: LRIG proteins regulate lipid metabolism via BMP signaling
            and affect the risk of type 2 diabetes.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1059)
  AUTHORS   Sun S, Gao J, Zhou S, Li Y, Wang Y, Jin L, Li J, Liu B, Zhang B,
            Han S, Ding H and Li X.
  TITLE     A novel circular RNA circ-LRIG3 facilitates the malignant
            progression of hepatocellular carcinoma by modulating the
            EZH2/STAT3 signaling
  JOURNAL   J Exp Clin Cancer Res 39 (1), 252 (2020)
   PUBMED   33222697
  REMARK    GeneRIF: A novel circular RNA circ-LRIG3 facilitates the malignant
            progression of hepatocellular carcinoma by modulating the
            EZH2/STAT3 signaling.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1059)
  AUTHORS   Qiu Y, Han Q, Lu H and Shi C.
  TITLE     miR-196a targeting LRIG3 promotes the proliferation and migration
            of cervical cancer cells
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 66 (7), 180-185 (2020)
   PUBMED   33287939
  REMARK    GeneRIF: miR-196a targeting LRIG3 promotes the proliferation and
            migration of cervical cancer cells.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1059)
  AUTHORS   Karlsson T, Mark EB, Henriksson R and Hedman H.
  TITLE     Redistribution of LRIG proteins in psoriasis
  JOURNAL   J Invest Dermatol 128 (5), 1192-1195 (2008)
   PUBMED   18037903
  REMARK    GeneRIF: LRIG proteins may have a role in epidermal homeostasis and
            psoriasis
REFERENCE   7  (residues 1 to 1059)
  AUTHORS   Guo D, Han L, Shu K, Chen J and Lei T.
  TITLE     Down-regulation of leucine-rich repeats and immunoglobulin-like
            domain proteins (LRIG1-3) in HP75 pituitary adenoma cell line
  JOURNAL   J Huazhong Univ Sci Technolog Med Sci 27 (1), 91-94 (2007)
   PUBMED   17393120
  REMARK    GeneRIF: Down-regulation of LRIG3 in HP75 pituitary adenoma is
            reported.
REFERENCE   8  (residues 1 to 1059)
  AUTHORS   Guo D, Nilsson J, Haapasalo H, Raheem O, Bergenheim T, Hedman H and
            Henriksson R.
  TITLE     Perinuclear leucine-rich repeats and immunoglobulin-like domain
            proteins (LRIG1-3) as prognostic indicators in astrocytic tumors
  JOURNAL   Acta Neuropathol 111 (3), 238-246 (2006)
   PUBMED   16532360
  REMARK    GeneRIF: These results indicate that expression and sub-cellular
            localization of LRIG1-3 might be of importance in the pathogenesis
            and prognosis of astrocytic tumors.
REFERENCE   9  (residues 1 to 1059)
  AUTHORS   Guo D, Holmlund C, Henriksson R and Hedman H.
  TITLE     The LRIG gene family has three vertebrate paralogs widely expressed
            in human and mouse tissues and a homolog in Ascidiacea
  JOURNAL   Genomics 84 (1), 157-165 (2004)
   PUBMED   15203213
REFERENCE   10 (residues 1 to 1059)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY358295.1 and AY358288.1.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the shorter isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY358295.1, SRR18074968.1527237.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1059
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.1"
     Protein         1..1059
                     /product="leucine-rich repeats and immunoglobulin-like
                     domains protein 3 isoform 1 precursor"
                     /note="leucine-rich repeats and immunoglobulin-like
                     domains protein 3; LIG-3"
                     /calculated_mol_wt=115240
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2217
     Region          20..73
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          40..55
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          63..86
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          82..>365
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:227223"
     Region          87..108
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          109..132
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          134..156
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          157..180
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          181..204
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          205..228
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          229..252
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          253..276
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          277..300
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          301..325
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          328..351
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          352..375
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          356..>434
                     /region_name="PCC"
                     /note="polycystin cation channel protein; TIGR00864"
                     /db_xref="CDD:188093"
     Region          438..525
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          456..460
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          471..475
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          496..500
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          518..523
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          532..535
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          544..634
                     /region_name="IgI_LRIG1-like"
                     /note="Immunoglobulin (Ig)-like ectodomain of the LRIG1
                     (Leucine-rich Repeats And Immunoglobulin-like Domains
                     Protein 1) and similar proteins; member of the I-set of
                     IgSF domains; cd05763"
                     /db_xref="CDD:409420"
     Region          544..547
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409420"
     Region          551..555
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409420"
     Region          558..567
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409420"
     Region          573..578
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409420"
     Region          581..583
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409420"
     Region          591..595
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409420"
     Region          599..606
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409420"
     Region          612..620
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409420"
     Region          623..634
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409420"
     Region          637..724
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          654..658
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          667..671
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          690..694
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          704..709
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          717..720
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..1059
                     /gene="LRIG3"
                     /gene_synonym="LIG3"
                     /coded_by="NM_001136051.3:24..3203"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS44933.1"
                     /db_xref="GeneID:121227"
                     /db_xref="HGNC:HGNC:30991"
                     /db_xref="MIM:608870"
ORIGIN      
        1 mvdvlllfsl cllfhisrpd lshnrlsfik assmshlqsl revklnnnel etipnlgpvs
       61 anitllslag nriveilpeh lkefqsletl dlssnnisel qtafpalqlk ylylnsnrvt
      121 smepgyfdnl antllvlkln rnrisaippk mfklpqlqhl elnrnkiknv dgltfqglga
      181 lkslkmqrng vtklmdgafw glsnmeilql dhnnlteitk gwlygllmlq elhlsqnain
      241 rispdawefc qklseldltf nhlsrlddss flglsllntl hignnrvsyi adcafrglss
      301 lktldlknne iswtiedmng afsgldklrr lilqgnrirs itkkaftgld alehldlsdn
      361 aimslqgnaf sqmkklqqlh lntssllcdc qlkwlpqwva ennfqsfvna scahpqllkg
      421 rsifavspdg fvcddfpkpq itvqpetqsa ikgsnlsfic saasssdspm tfawkkdnel
      481 lhdaemenya hlraqggevm eyttilrlre vefasegkyq cvisnhfgss ysvkakltvn
      541 mlpsftktpm dltiragama rlecaavghp apqiawqkdg gtdfpaarer rmhvmpeddv
      601 ffivdvkied igvysctaqn sagsisanat ltvletpsfl rplldrtvtk getavlqcia
      661 ggspppklnw tkddsplvvt erhffaagnq lliivdsdvs dagkytcems ntlgtergnv
      721 rlsviptptc dspqmtapsl dddgwatvgv viiavvccvv gtslvwvvii yhtrrrnedc
      781 sitntdetnl padipsylss qgtladrqdg yvssesgshh qfvtssgagf flpqhdssgt
      841 chidnssead veaatdlflc pflgstgpmy lkgnvygsdp fetyhtgcsp dprtvlmdhy
      901 epsyikkkec ypcshpsees cersfsnisw pshvrkllnt syshnegpgm knlclnkssl
      961 dfsanpepas vassnsfmgt fgkalrrphl dayssfgqps dcqprafylk ahsspdldsg
     1021 seedgkertd fqeenhictf kqtlenyrtp nfqsydldt
//
LOCUS       NP_775104                872 aa            linear   PRI 22-JAN-2023
DEFINITION  armadillo repeat-containing protein 3 isoform 1 [Homo sapiens].
ACCESSION   NP_775104
VERSION     NP_775104.2
DBSOURCE    REFSEQ: accession NM_173081.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 872)
  AUTHORS   Rehman AU, Hamid M, Khan SA, Eisa M, Ullah W, Rehman ZU, Khan MA,
            Basit S, Muhammad N, Khan S and Wasif N.
  TITLE     The Expansion of the Spectrum in Stuttering Disorders to a Novel
            ARMC Gene Family (ARMC3)
  JOURNAL   Genes (Basel) 13 (12), 2299 (2022)
   PUBMED   36553564
  REMARK    GeneRIF: The Expansion of the Spectrum in Stuttering Disorders to a
            Novel ARMC Gene Family (ARMC3).
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 872)
  AUTHORS   Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A,
            Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V,
            Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I,
            Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat
            JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang
            W, Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd
            PM, Hayward C, Aulchenko Y, Campbell H and Rudan I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   3  (residues 1 to 872)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   4  (residues 1 to 872)
  AUTHORS   Li X, Liu B, Ji CN, Kang Y and Mao Y.
  TITLE     Cloning and expression of ARMC3_v2, a novel splicing variant of the
            human ARMC3 gene
  JOURNAL   Genetika 42 (7), 999-1003 (2006)
   PUBMED   16915934
  REMARK    GeneRIF: ARMC3_v2 was detected in human skeletal muscle, liver,
            spleen and thymus; in contrast, ARMC3_v1 in skeletal muscle, lung,
            prostate and testis
REFERENCE   5  (residues 1 to 872)
  AUTHORS   Okada T, Akada M, Fujita T, Iwata T, Goto Y, Kido K, Okada T,
            Matsuzaki Y, Kobayashi K, Matsuno S, Sunamura M and Kawakami Y.
  TITLE     A novel cancer testis antigen that is frequently expressed in
            pancreatic, lung, and endometrial cancers
  JOURNAL   Clin Cancer Res 12 (1), 191-197 (2006)
   PUBMED   16397042
  REMARK    GeneRIF: KU-CT-1 is a new cancer testis antigen that is expressed
            in pancreatic, lung, and endometrial cancers
REFERENCE   6  (residues 1 to 872)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe
            JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C,
            Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J,
            White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L,
            Morris JC, Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC039312.1, AK302985.1, AL139815.12 and CB240778.1.
            On Jun 5, 2008 this sequence version replaced NP_775104.1.
            
            Summary: Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM)
            domains are imperfect 45-amino acid repeats involved in
            protein-protein interactions. ARM domain-containing proteins, such
            as ARMC3, function in signal transduction, development, cell
            adhesion and mobility, and tumor initiation and metastasis (Li et
            al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC039312.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298032.10/ ENSP00000298032.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..872
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.2"
     Protein         1..872
                     /product="armadillo repeat-containing protein 3 isoform 1"
                     /note="cancer/testis antigen 81; armadillo
                     repeat-containing protein 3; beta-catenin-like protein"
                     /calculated_mol_wt=96274
     Region          15..54
                     /region_name="ARM 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5W041.2)"
     Region          21..52
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          <24..265
                     /region_name="SRP1"
                     /note="Karyopherin (importin) alpha [Intracellular
                     trafficking and secretion]; COG5064"
                     /db_xref="CDD:227396"
     Site            order(43,47,51,85,89,93,168,172,176)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          57..96
                     /region_name="ARM 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5W041.2)"
     Region          60..96
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          98..138
                     /region_name="ARM 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5W041.2)"
     Region          106..137
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          140..179
                     /region_name="ARM 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5W041.2)"
     Region          143..177
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          181..220
                     /region_name="ARM 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5W041.2)"
     Region          184..220
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          <203..>542
                     /region_name="PLN03200"
                     /note="cellulose synthase-interactive protein;
                     Provisional"
                     /db_xref="CDD:215629"
     Region          222..262
                     /region_name="ARM 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5W041.2)"
     Region          225..259
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          264..304
                     /region_name="ARM 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5W041.2)"
     Region          306..345
                     /region_name="ARM 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5W041.2)"
     Region          346..385
                     /region_name="ARM 9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5W041.2)"
     Region          358..383
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Site            order(374,378,382,416,420,424,498,502)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          388..427
                     /region_name="ARM 10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5W041.2)"
     Region          391..436
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          429..468
                     /region_name="ARM 11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5W041.2)"
     Region          435..465
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          470..509
                     /region_name="ARM 12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5W041.2)"
     Region          473..503
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          610..693
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5W041.2)"
     Region          <741..858
                     /region_name="EDR1"
                     /note="Ethylene-responsive protein kinase Le-CTR1;
                     pfam14381"
                     /db_xref="CDD:433922"
     CDS             1..872
                     /gene="ARMC3"
                     /gene_synonym="CT81; KU-CT-1"
                     /coded_by="NM_173081.5:56..2674"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7142.1"
                     /db_xref="GeneID:219681"
                     /db_xref="HGNC:HGNC:30964"
                     /db_xref="MIM:611226"
ORIGIN      
        1 mgkkikkeve pppkdvfdpl mieskkaatv vlmlnspeee ilakaceaiy kfalkgeenk
       61 ttllelgave pltkllthed kivrrnatmi fgilasnndv kkllreldvm nsviaqlape
      121 eevvihefas lclanmsaey tskvqifehg gleplirlls spdpdvkkns meciynlvqd
      181 fqcraklqel naippildll kseypviqll alktlgvian dkesrtmlrd nqgldhliki
      241 letkelndlh iealavianc ledmdtmvqi qqtgglkkll sfaenstipd iqknaakait
      301 kaaydpenrk lfheqevekc lvallgsend gtkiaasqai samcensgsk dffnnqgipq
      361 liqllksdne evreaaalal anlttcnpan anaaaeadgi dplinllssk rdgaianaat
      421 vltnmamqep lrlniqnhdi mhaiisplrs antvvqskaa lavtatacdv eartelrnsg
      481 gleplvellr skndevrkha swavmvcagd eltanelcrl galdileevn vsgtrknkfs
      541 eaaynkllnn nlslkysqtg ylsssniind gfydygrinp gtkllplkel clqepsdlra
      601 vllinsksyv sppssmedks dvgygrsiss ssslrrsske knkknsyhfs agfgspiedk
      661 sepasgrntv lsksatkekg wrkskgkkee ekvkeeeevm vvpkfvgegs sdkewcppsd
      721 pdfsmyvyev tksilpitni keqiedlaky vaekmggkip keklpdfswe lhiselkfql
      781 ksnvipighv kkgifyhral lfkaladrig igcslvrgey grawnevmlq ndsrkgvigg
      841 lpapemyvid lmfhpgglmk lrsreadlyr fi
//
LOCUS       NP_001393304             713 aa            linear   PRI 26-FEB-2023
DEFINITION  methylcytosine dioxygenase TET1 isoform 8 [Homo sapiens].
ACCESSION   NP_001393304
VERSION     NP_001393304.1
DBSOURCE    REFSEQ: accession NM_001406375.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 713)
  AUTHORS   Lu N, Wang X, Wang W, Tang M, Chen J, You H and Wang D.
  TITLE     TET1-mediated microRNA-188-5p promoter hydroxymethylation regulates
            PTEN/PI3K/AKT signaling pathway in acute myeloid leukemia cells
  JOURNAL   Arch Biochem Biophys 736, 109523 (2023)
   PUBMED   36682704
  REMARK    GeneRIF: TET1-mediated microRNA-188-5p promoter hydroxymethylation
            regulates PTEN/PI3K/AKT signaling pathway in acute myeloid leukemia
            cells.
REFERENCE   2  (residues 1 to 713)
  AUTHORS   Dutta P, Basu M, Roy A, Mandal RK and Panda CK.
  TITLE     High nuclear expression of DNMT1 in correlation with inactivation
            of TET1 portray worst prognosis among the cervical carcinoma
            patients: clinical implications
  JOURNAL   J Mol Histol 54 (1), 89-102 (2023)
   PUBMED   36692670
  REMARK    GeneRIF: High nuclear expression of DNMT1 in correlation with
            inactivation of TET1 portray worst prognosis among the cervical
            carcinoma patients: clinical implications.
REFERENCE   3  (residues 1 to 713)
  AUTHORS   Wu H, Jiao Y, Guo X, Wu Z and Lv Q.
  TITLE     DNMT3B and TET1 mediated DNA methylation of LATS1 regulates BC
            progression via hippo signaling pathway
  JOURNAL   Pathol Res Pract 240, 154231 (2022)
   PUBMED   36413827
  REMARK    GeneRIF: DNMT3B and TET1 mediated DNA methylation of LATS1
            regulates BC progression via hippo signaling pathway.
REFERENCE   4  (residues 1 to 713)
  AUTHORS   Tang X, Liang Y, Sun G, He Q, Hou Z, Jiang X, Gao P and Qu H.
  TITLE     Upregulation of CRABP2 by TET1-mediated DNA hydroxymethylation
            attenuates mitochondrial apoptosis and promotes oxaliplatin
            resistance in gastric cancer
  JOURNAL   Cell Death Dis 13 (10), 848 (2022)
   PUBMED   36195596
  REMARK    GeneRIF: Upregulation of CRABP2 by TET1-mediated DNA
            hydroxymethylation attenuates mitochondrial apoptosis and promotes
            oxaliplatin resistance in gastric cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 713)
  AUTHORS   Chao L, Yang S, Li H, Long C, Xi Q and Zuo Y.
  TITLE     Competitive binding of TET1 and DNMT3A/B cooperates the DNA
            methylation pattern in human embryonic stem cells
  JOURNAL   Biochim Biophys Acta Gene Regul Mech 1865 (7), 194861 (2022)
   PUBMED   35998875
  REMARK    GeneRIF: Competitive binding of TET1 and DNMT3A/B cooperates the
            DNA methylation pattern in human embryonic stem cells.
REFERENCE   6  (residues 1 to 713)
  AUTHORS   Morgan AR, Hamilton G, Turic D, Jehu L, Harold D, Abraham R,
            Hollingworth P, Moskvina V, Brayne C, Rubinsztein DC, Lynch A,
            Lawlor B, Gill M, O'Donovan M, Powell J, Lovestone S, Williams J
            and Owen MJ.
  TITLE     Association analysis of 528 intra-genic SNPs in a region of
            chromosome 10 linked to late onset Alzheimer's disease
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 147B (6), 727-731 (2008)
   PUBMED   18163421
  REMARK    GeneRIF: Significant association with late-onset Alzheimer's
            disease for 4 SNPs: rs1881747 near DKK1, rs2279420 in ANK3,
            rs2306402 in CTNNA3, and rs5030882 in CXXC6 in 1,160 cases and
            1,389 controls.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 713)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe
            JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C,
            Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J,
            White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L,
            Morris JC, Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 713)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD,
            Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird
            G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson
            T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan
            S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou
            T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore
            N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J,
            Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead
            SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T,
            Doucette-Stamm L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   9  (residues 1 to 713)
  AUTHORS   Lorsbach,R.B., Moore,J., Mathew,S., Raimondi,S.C., Mukatira,S.T.
            and Downing,J.R.
  TITLE     TET1, a member of a novel protein family, is fused to MLL in acute
            myeloid leukemia containing the t(10;11)(q22;q23)
  JOURNAL   Leukemia 17 (3), 637-641 (2003)
   PUBMED   12646957
  REMARK    GeneRIF: demonstrated that TET1 is fused to MLL in a case of
            pediatric acute myeloid leukemia containing the t(10;11)(q22;q23)
REFERENCE   10 (residues 1 to 713)
  AUTHORS   Ono R, Taki T, Taketani T, Taniwaki M, Kobayashi H and Hayashi Y.
  TITLE     LCX, leukemia-associated protein with a CXXC domain, is fused to
            MLL in acute myeloid leukemia with trilineage dysplasia having
            t(10;11)(q22;q23)
  JOURNAL   Cancer Res 62 (14), 4075-4080 (2002)
   PUBMED   12124344
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL713888.10 and AL513534.17.
            
            Summary: DNA methylation is an epigenetic mechanism that is
            important for controlling gene expression. The protein encoded by
            this gene is a demethylase that belongs to the TET (ten-eleven
            translocation) family. Members of the TET protein family play a
            role in the DNA methylation process and gene activation. [provided
            by RefSeq, Sep 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.2991977.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMN03267754
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..713
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.3"
     Protein         1..713
                     /product="methylcytosine dioxygenase TET1 isoform 8"
                     /EC_number="1.14.11.n2"
                     /note="CXXC finger 6; leukemia-associated protein with a
                     CXXC domain; methylcytosine dioxygenase TET1; ten-eleven
                     translocation-1; CXXC-type zinc finger protein 6; tet
                     oncogene 1; CXXC zinc finger 6; ten-eleven translocation 1
                     gene protein"
                     /calculated_mol_wt=78909
     Region          1..>322
                     /region_name="Tet_JBP"
                     /note="oxygenase domain of ten-eleven translocation (TET)
                     enzymes, J-binding proteins (JBPs), and similar proteins;
                     cl40427"
                     /db_xref="CDD:394797"
     Region          <432..575
                     /region_name="PHA03321"
                     /note="tegument protein VP11/12; Provisional"
                     /db_xref="CDD:223041"
     Region          <523..655
                     /region_name="Tet_JBP"
                     /note="oxygenase domain of ten-eleven translocation (TET)
                     enzymes, J-binding proteins (JBPs), and similar proteins;
                     cl40427"
                     /db_xref="CDD:394797"
     CDS             1..713
                     /gene="TET1"
                     /gene_synonym="bA119F7.1; CXXC6; LCX"
                     /coded_by="NM_001406375.1:318..2459"
                     /note="isoform 8 is encoded by transcript variant 11"
                     /db_xref="GeneID:80312"
                     /db_xref="HGNC:HGNC:29484"
                     /db_xref="MIM:607790"
ORIGIN      
        1 menrygqkgn airieivvyt gkegksshgc piakwvlrrs sdeekvlclv rqrtghhcpt
       61 avmvvlimvw dgiplpmadr lyteltenlk synghptdrr ctlnenrtct cqgidpetcg
      121 asfsfgcsws myfngckfgr spsprrfrid pssplhtyye ritkgrnper rymkperisp
      181 gheameknle dnlqslatrl apiykqyapv ayqnqveyen varecrlgsk egrpfsgvta
      241 cldfcahphr dihnmnngst vvctltredn rslgvipqde qlhvlplykl sdtdefgske
      301 gmeakiksga ievlaprrkk rtcftqpvpr sgkkraammt evlahkirav ekkpiprikr
      361 knnstttnns kpsslptlgs ntetvqpevk setephfilk ssdntktysl mpsaphpvke
      421 aspgfswspk tasatpaplk ndatascgfs ersstphctm psgrlsgana aaadgpgisq
      481 lgevaplptl sapvmeplin sepstgvtep ltphqpnhqp sfltspqdla sspmeedeqh
      541 seadeppsde plsddplspa eeklphidey wsdsehifld aniggvaiap ahgsvlieca
      601 rrelhattpv ehpnrnhptr lslvfyqhkn lnkpqhgfel nkikfeakea knkkmkaseq
      661 kdqaanegpe qssevnelnq ipshkaltlt hdnvvtvspy althvagpyn hwv
//
LOCUS       NP_002296                135 aa            linear   PRI 12-MAR-2023
DEFINITION  galectin-1 [Homo sapiens].
ACCESSION   NP_002296
VERSION     NP_002296.1
DBSOURCE    REFSEQ: accession NM_002305.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 135)
  AUTHORS   Zhang Q, Ali M, Wang Y, Sun QN, Zhu XD, Tang D, Wang W, Zhang CY,
            Zhou HH and Wang DR.
  TITLE     Galectin-1 binds GRP78 to promote the proliferation and metastasis
            of gastric cancer
  JOURNAL   Int J Oncol 61 (5) (2022)
   PUBMED   36177897
  REMARK    GeneRIF: Galectin1 binds GRP78 to promote the proliferation and
            metastasis of gastric cancer.
REFERENCE   2  (residues 1 to 135)
  AUTHORS   Cai Z, Yin K, Liu Q, Liu M, Yang X and Cui L.
  TITLE     Association between abnormal expression and methylation of LGALS1
            in amyotrophic lateral sclerosis
  JOURNAL   Brain Res 1792, 148022 (2022)
   PUBMED   35872012
  REMARK    GeneRIF: Association between abnormal expression and methylation of
            LGALS1 in amyotrophic lateral sclerosis.
REFERENCE   3  (residues 1 to 135)
  AUTHORS   Chen Y, Fang Y, Li L, Luo H, Cao T and Tu B.
  TITLE     Exosomal miR-22-3p from Mesenchymal Stem Cells Inhibits the
            Epithelial-Mesenchymal Transition (EMT) of Melanoma Cells by
            Regulating LGALS1
  JOURNAL   Front Biosci (Landmark Ed) 27 (9), 275 (2022)
   PUBMED   36224027
  REMARK    GeneRIF: Exosomal miR-22-3p from Mesenchymal Stem Cells Inhibits
            the Epithelial-Mesenchymal Transition (EMT) of Melanoma Cells by
            Regulating LGALS1.
REFERENCE   4  (residues 1 to 135)
  AUTHORS   Pirone L, Nieto-Fabregat F, Di Gaetano S, Capasso D, Russo R,
            Traboni S, Molinaro A, Iadonisi A, Saviano M, Marchetti R, Silipo A
            and Pedone E.
  TITLE     Exploring the Molecular Interactions of Symmetrical and
            Unsymmetrical Selenoglycosides with Human Galectin-1 and Galectin-3
  JOURNAL   Int J Mol Sci 23 (15), 8273 (2022)
   PUBMED   35955408
  REMARK    GeneRIF: Exploring the Molecular Interactions of Symmetrical and
            Unsymmetrical Selenoglycosides with Human Galectin-1 and
            Galectin-3.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 135)
  AUTHORS   Ferreira T, Kulkarni A, Bretscher C, Nazarov PV, Hossain JA, Ystaas
            LAR, Miletic H, Roth R, Niesler B and Marchini A.
  TITLE     Oncolytic H-1 Parvovirus Hijacks Galectin-1 to Enter Cancer Cells
  JOURNAL   Viruses 14 (5), 1018 (2022)
   PUBMED   35632759
  REMARK    GeneRIF: Oncolytic H-1 Parvovirus Hijacks Galectin-1 to Enter
            Cancer Cells.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 135)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   7  (residues 1 to 135)
  AUTHORS   Goldstone SD and Lavin MF.
  TITLE     Isolation of a cDNA clone, encoding a human beta-galactoside
            binding protein, overexpressed during glucocorticoid-induced cell
            death
  JOURNAL   Biochem Biophys Res Commun 178 (2), 746-750 (1991)
   PUBMED   1713454
REFERENCE   8  (residues 1 to 135)
  AUTHORS   Gitt MA and Barondes SH.
  TITLE     Genomic sequence and organization of two members of a human lectin
            gene family
  JOURNAL   Biochemistry 30 (1), 82-89 (1991)
   PUBMED   1988031
REFERENCE   9  (residues 1 to 135)
  AUTHORS   Allen HJ, Sucato D, Gottstine S, Kisailus E, Nava H, Petrelli N,
            Castillo N and Wilson D.
  TITLE     Localization of endogenous beta-galactoside-binding lectin in human
            cells and tissues
  JOURNAL   Tumour Biol 12 (1), 52-60 (1991)
   PUBMED   1996404
REFERENCE   10 (residues 1 to 135)
  AUTHORS   Sharma A, Chemelli R and Allen HJ.
  TITLE     Human splenic galaptin: physicochemical characterization
  JOURNAL   Biochemistry 29 (22), 5309-5314 (1990)
   PUBMED   2383549
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC020675.1.
            
            Summary: The galectins are a family of beta-galactoside-binding
            proteins implicated in modulating cell-cell and cell-matrix
            interactions. This gene product may act as an autocrine negative
            growth factor that regulates cell proliferation. [provided by
            RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC020675.1, GQ891519.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000215909.10/ ENSP00000215909.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..135
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     Protein         1..135
                     /product="galectin-1"
                     /note="beta-galactoside-binding lectin L-14-I;
                     lactose-binding lectin 1; galaptin; S-Lac lectin 1; HBL;
                     HPL; gal-1; HLBP14; 14 kDa lectin; 14 kDa laminin-binding
                     protein; putative MAPK-activating protein PM12;
                     beta-galactoside-binding protein 14kDa; lectin,
                     galactoside-binding, soluble, 1; epididymis secretory
                     sperm binding protein"
                     /calculated_mol_wt=14585
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378, ECO:0007744|PubMed:25944712;
                     propagated from UniProtKB/Swiss-Prot (P09382.2)"
     Region          11..134
                     /region_name="GLECT"
                     /note="Galectin; smart00276"
                     /db_xref="CDD:214596"
     Site            order(13..15,18,21,91..93,98,100,103)
                     /site_type="other"
                     /note="putative alternate dimerization interface
                     [polypeptide binding]"
                     /db_xref="CDD:238025"
     Site            13
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P16045; propagated from
                     UniProtKB/Swiss-Prot (P09382.2)"
     Site            29
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P09382.2)"
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P09382.2)"
     Site            order(45,47,49,60,62,69,72,74)
                     /site_type="other"
                     /note="sugar binding pocket [chemical binding]"
                     /db_xref="CDD:238025"
     Site            108
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P16045; propagated from
                     UniProtKB/Swiss-Prot (P09382.2)"
     Site            128
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P16045; propagated from
                     UniProtKB/Swiss-Prot (P09382.2)"
     CDS             1..135
                     /gene="LGALS1"
                     /gene_synonym="GAL1; GBP"
                     /coded_by="NM_002305.4:68..475"
                     /db_xref="CCDS:CCDS13954.1"
                     /db_xref="GeneID:3956"
                     /db_xref="HGNC:HGNC:6561"
                     /db_xref="MIM:150570"
ORIGIN      
        1 macglvasnl nlkpgeclrv rgevapdaks fvlnlgkdsn nlclhfnprf nahgdantiv
       61 cnskdggawg teqreavfpf qpgsvaevci tfdqanltvk lpdgyefkfp nrlnleainy
      121 maadgdfkik cvafd
//
LOCUS       NP_001362771             370 aa            linear   PRI 14-MAR-2023
DEFINITION  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001362771 XP_024307066
VERSION     NP_001362771.1
DBSOURCE    REFSEQ: accession NM_001375842.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 370)
  AUTHORS   Kawana H, Ozawa M, Shibata T, Onishi H, Sato Y, Kano K, Shindou H,
            Shimizu T, Kono N and Aoki J.
  TITLE     Identification and characterization of LPLAT7 as an sn-1-specific
            lysophospholipid acyltransferase
  JOURNAL   J Lipid Res 63 (10), 100271 (2022)
   PUBMED   36049524
REFERENCE   2  (residues 1 to 370)
  AUTHORS   Soh J, Iqbal J, Queiroz J, Fernandez-Hernando C and Hussain MM.
  TITLE     MicroRNA-30c reduces hyperlipidemia and atherosclerosis in mice by
            decreasing lipid synthesis and lipoprotein secretion
  JOURNAL   Nat Med 19 (7), 892-900 (2013)
   PUBMED   23749231
REFERENCE   3  (residues 1 to 370)
  AUTHORS   Wu JH, Lemaitre RN, Manichaikul A, Guan W, Tanaka T, Foy M,
            Kabagambe EK, Djousse L, Siscovick D, Fretts AM, Johnson C, King
            IB, Psaty BM, McKnight B, Rich SS, Chen YD, Nettleton JA, Tang W,
            Bandinelli S, Jacobs DR Jr, Browning BL, Laurie CC, Gu X, Tsai MY,
            Steffen LM, Ferrucci L, Fornage M and Mozaffarian D.
  TITLE     Genome-wide association study identifies novel loci associated with
            concentrations of four plasma phospholipid fatty acids in the de
            novo lipogenesis pathway: results from the Cohorts for Heart and
            Aging Research in Genomic Epidemiology (CHARGE) consortium
  JOURNAL   Circ Cardiovasc Genet 6 (2), 171-183 (2013)
   PUBMED   23362303
REFERENCE   4  (residues 1 to 370)
  AUTHORS   Traurig MT, Orczewska JI, Ortiz DJ, Bian L, Marinelarena AM, Kobes
            S, Malhotra A, Hanson RL, Mason CC, Knowler WC, Bogardus C and
            Baier LJ.
  TITLE     Evidence for a role of LPGAT1 in influencing BMI and percent body
            fat in Native Americans
  JOURNAL   Obesity (Silver Spring) 21 (1), 193-202 (2013)
   PUBMED   23505186
  REMARK    GeneRIF: LPGAT1 is a novel gene that influences BMI in Native
            Americans.
REFERENCE   5  (residues 1 to 370)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   6  (residues 1 to 370)
  AUTHORS   Yang Y, Cao J and Shi Y.
  TITLE     Identification and characterization of a gene encoding human
            LPGAT1, an endoplasmic reticulum-associated
            lysophosphatidylglycerol acyltransferase
  JOURNAL   J Biol Chem 279 (53), 55866-55874 (2004)
   PUBMED   15485873
  REMARK    GeneRIF: human LPGAT1 is an endoplasmic reticulum-associated
            lysophosphatidylglycerol acyltransferase
REFERENCE   7  (residues 1 to 370)
  AUTHORS   Hoja MR, Wahlestedt C and Hoog C.
  TITLE     A visual intracellular classification strategy for uncharacterized
            human proteins
  JOURNAL   Exp Cell Res 259 (1), 239-246 (2000)
   PUBMED   10942595
REFERENCE   8  (residues 1 to 370)
  AUTHORS   Gueguen M, Patard JJ, Gaugler B, Brasseur F, Renauld JC, Van Cangh
            PJ, Boon T and Van den Eynde BJ.
  TITLE     An antigen recognized by autologous CTLs on a human bladder
            carcinoma
  JOURNAL   J Immunol 160 (12), 6188-6194 (1998)
   PUBMED   9637538
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL445488.4 and AC096637.1.
            On Nov 5, 2019 this sequence version replaced XP_024307066.1.
            
            Summary: This gene encodes a member of the lysophospholipid
            acyltransferase family. The encoded protein catalyzes the
            reacylation of lysophosphatidylglycerol to phosphatidylglycerol, a
            membrane phospholipid that is an important precursor for the
            synthesis of cardiolipin. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Mar 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.218066.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..370
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.3"
     Protein         1..370
                     /product="acyl-CoA:lysophosphatidylglycerol
                     acyltransferase 1 isoform 1"
                     /EC_number="2.3.1.22"
                     /EC_number="2.3.1.62"
                     /note="family with sequence similarity 34, member A;
                     acyl-CoA:lysophosphatidylglycerol acyltransferase 1;
                     acyl-CoA:monoacylglycerol acyltransferase LPGAT1;
                     lysophospholipid acyltransferase 7;
                     stearoyl-CoA:1-lyso-2-acyl-PE acyltransferase;
                     2-acylglycerophosphocholine O-acyltransferase"
                     /calculated_mol_wt=42958
     Site            22..42
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92604.1)"
     Region          69..285
                     /region_name="LPLAT_LCLAT1-like"
                     /note="Lysophospholipid Acyltransferases (LPLATs) of
                     Glycerophospholipid Biosynthesis: LCLAT1-like; cd07990"
                     /db_xref="CDD:153252"
     Site            order(101,104,106,127..130,185..187)
                     /site_type="active"
                     /note="putative acyl-acceptor binding pocket [active]"
                     /db_xref="CDD:153252"
     Region          101..106
                     /region_name="HXXXXD motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92604.1)"
     Region          274..>324
                     /region_name="Acyltransf_C"
                     /note="Acyltransferase C-terminus; pfam16076"
                     /db_xref="CDD:435120"
     Site            342..362
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92604.1)"
     CDS             1..370
                     /gene="LPGAT1"
                     /gene_synonym="FAM34A; FAM34A1; LPLAT7; NET8"
                     /coded_by="NM_001375842.1:137..1249"
                     /note="isoform 1 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS31018.1"
                     /db_xref="GeneID:9926"
                     /db_xref="HGNC:HGNC:28985"
                     /db_xref="MIM:610473"
ORIGIN      
        1 maitleeapw lgwllvkalm rfafmvvnnl vaipsyicyv iilqplrvld skrfwyiegi
       61 mykwllgmva swgwyagytv mewgedikav skdeavmlvn hqatgdvctl mmclqdkglv
      121 vaqmmwlmdh ifkytnfgiv slvhgdffir qgrsyrdqql lllkkhlenn yrsrdrkwiv
      181 lfpeggflrk rretsqafak knnlpfltnv tlprsgatki ilnalvaqqk ngspaggdak
      241 eldskskglq wiidttiayp kaepidiqtw ilgyrkptvt hvhyrifpik dvpletddlt
      301 twlyqrfvek edllshfyet gafppskghk eavsremtls nlwifliqsf aflsgymwyn
      361 iiqyfyhclf
//
LOCUS       NP_001121123             526 aa            linear   PRI 16-MAR-2023
DEFINITION  neutrophil cytosol factor 2 isoform 1 [Homo sapiens].
ACCESSION   NP_001121123
VERSION     NP_001121123.1
DBSOURCE    REFSEQ: accession NM_001127651.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 526)
  AUTHORS   Bakutenko IY, Haurylchyk ID, Nikitchenko NV, Sechko EV, Kozyro IA,
            Tchitchko AM, Batyan GM, Sukalo AV and Ryabokon NI.
  TITLE     Neutrophil cytosolic factor 2 (NCF2) gene polymorphism is
            associated with juvenile-onset systemic lupus erythematosus, but
            probably not with other autoimmune rheumatic diseases in children
  JOURNAL   Mol Genet Genomic Med 10 (1), e1859 (2022)
   PUBMED   34971477
  REMARK    GeneRIF: Neutrophil cytosolic factor 2 (NCF2) gene polymorphism is
            associated with juvenile-onset systemic lupus erythematosus, but
            probably not with other autoimmune rheumatic diseases in children.
REFERENCE   2  (residues 1 to 526)
  AUTHORS   Chen Y, He F, Wang R, Yao M, Li Y, Guo D and He S.
  TITLE     NCF1/2/4 Are Prognostic Biomarkers Related to the Immune
            Infiltration of Kidney Renal Clear Cell Carcinoma
  JOURNAL   Biomed Res Int 2021, 5954036 (2021)
   PUBMED   34708124
  REMARK    GeneRIF: NCF1/2/4 Are Prognostic Biomarkers Related to the Immune
            Infiltration of Kidney Renal Clear Cell Carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 526)
  AUTHORS   Yang S, Tang D, Zhao YC, Liu H, Luo S, Stinchcombe TE, Glass C, Su
            L, Shen S, Christiani DC, Wang Q and Wei Q.
  TITLE     Potentially functional variants of ERAP1, PSMF1 and NCF2 in the
            MHC-I-related pathway predict non-small cell lung cancer survival
  JOURNAL   Cancer Immunol Immunother 70 (10), 2819-2833 (2021)
   PUBMED   33651148
  REMARK    GeneRIF: Potentially functional variants of ERAP1, PSMF1 and NCF2
            in the MHC-I-related pathway predict non-small cell lung cancer
            survival.
REFERENCE   4  (residues 1 to 526)
  AUTHORS   Wang D, Liu J, Chen Q, Yang R and Jiang Q.
  TITLE     Upregulation of glutaminase 2 and neutrophil cytosolic factor 2 is
            associated with the poor prognosis of glioblastoma
  JOURNAL   Biomark Med 14 (16), 1585-1597 (2020)
   PUBMED   33179520
  REMARK    GeneRIF: Upregulation of glutaminase 2 and neutrophil cytosolic
            factor 2 is associated with the poor prognosis of glioblastoma.
REFERENCE   5  (residues 1 to 526)
  AUTHORS   Gauss KA, Bunger PL and Quinn MT.
  TITLE     AP-1 is essential for p67(phox) promoter activity
  JOURNAL   J Leukoc Biol 71 (1), 163-172 (2002)
   PUBMED   11781392
REFERENCE   6  (residues 1 to 526)
  AUTHORS   Prigmore E, Ahmed S, Best A, Kozma R, Manser E, Segal AW and Lim L.
  TITLE     A 68-kDa kinase and NADPH oxidase component p67phox are targets for
            Cdc42Hs and Rac1 in neutrophils
  JOURNAL   J Biol Chem 270 (18), 10717-10722 (1995)
   PUBMED   7738010
REFERENCE   7  (residues 1 to 526)
  AUTHORS   Leiding,J.W. and Holland,S.M.
  TITLE     Chronic Granulomatous Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22876374
REFERENCE   8  (residues 1 to 526)
  AUTHORS   Kenney RT and Leto TL.
  TITLE     A HindIII polymorphism in the human NCF2 gene
  JOURNAL   Nucleic Acids Res 18 (23), 7193 (1990)
   PUBMED   1979859
REFERENCE   9  (residues 1 to 526)
  AUTHORS   Francke U, Hsieh CL, Foellmer BE, Lomax KJ, Malech HL and Leto TL.
  TITLE     Genes for two autosomal recessive forms of chronic granulomatous
            disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1)
  JOURNAL   Am J Hum Genet 47 (3), 483-492 (1990)
   PUBMED   2393022
REFERENCE   10 (residues 1 to 526)
  AUTHORS   Leto TL, Lomax KJ, Volpp BD, Nunoi H, Sechler JM, Nauseef WM, Clark
            RA, Gallin JI and Malech HL.
  TITLE     Cloning of a 67-kD neutrophil oxidase factor with similarity to a
            noncatalytic region of p60c-src
  JOURNAL   Science 248 (4956), 727-730 (1990)
   PUBMED   1692159
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA817767.1, M32011.1,
            AL137800.12 and AW951155.1.
            
            Summary: This gene encodes neutrophil cytosolic factor 2, the
            67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase
            complex found in neutrophils. This oxidase produces a burst of
            superoxide which is delivered to the lumen of the neutrophil
            phagosome. Mutations in this gene, as well as in other NADPH
            oxidase subunits, can result in chronic granulomatous disease, a
            disease that causes recurrent infections by catalase-positive
            organisms. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Jun
            2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M32011.1, SRR14038192.874548.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..526
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.3"
     Protein         1..526
                     /product="neutrophil cytosol factor 2 isoform 1"
                     /note="neutrophil cytosolic factor 2 (65kD, chronic
                     granulomatous disease, autosomal 2); NADPH oxidase
                     activator 2; neutrophil cytosol factor 2; 67 kDa
                     neutrophil oxidase factor; neutrophil NADPH oxidase factor
                     2"
                     /calculated_mol_wt=59631
     Region          6..32
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(7,10..11,14..15,17,38,41..42,45..46,48..49,72,
                     75..76,79..80,83)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          36..66
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          37..70
                     /region_name="TPR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P19878.2)"
     Region          42..98
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     Region          71..104
                     /region_name="TPR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P19878.2)"
     Region          71..>98
                     /region_name="TPR_1"
                     /note="Tetratricopeptide repeat; pfam00515"
                     /db_xref="CDD:425728"
     Region          71..98
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          121..154
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (P19878.2)"
     Site            233
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:O70145; propagated from
                     UniProtKB/Swiss-Prot (P19878.2)"
     Region          244..297
                     /region_name="SH3_p67phox_N"
                     /note="N-terminal (or first) Src Homology 3 domain of the
                     p67phox subunit of NADPH oxidase; cd11871"
                     /db_xref="CDD:212804"
     Site            order(249,251,254,258,276..277,290,292..293)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212804"
     Region          303..346
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P19878.2)"
     Region          351..429
                     /region_name="PB1_P67"
                     /note="A PB1 domain is present in p67 proteins which forms
                     a signaling complex with p40, a crucial step for
                     activation of NADPH oxidase during phagocytosis. PB1
                     domain is a modular domain mediating specific
                     protein-protein interactions which play a role in...;
                     cd06406"
                     /db_xref="CDD:99727"
     Site            order(355,365,382,418)
                     /site_type="other"
                     /note="PB1 interaction surface [polypeptide binding]"
                     /db_xref="CDD:99727"
     Site            399
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O70145; propagated from
                     UniProtKB/Swiss-Prot (P19878.2)"
     Region          433..458
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P19878.2)"
     Region          461..513
                     /region_name="SH3_p67phox_C"
                     /note="C-terminal (or second) Src Homology 3 domain of the
                     p67phox subunit of NADPH oxidase; cd12046"
                     /db_xref="CDD:212979"
     Site            order(466..468,472..475,487..491,493..494,496,503..505,
                     507,509..510)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212979"
     CDS             1..526
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /coded_by="NM_001127651.3:106..1686"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS1356.1"
                     /db_xref="GeneID:4688"
                     /db_xref="HGNC:HGNC:7661"
                     /db_xref="MIM:608515"
ORIGIN      
        1 mslveaislw negvlaadkk dwkgaldafs avqdphsric fnigcmytil knmteaekaf
       61 trsinrdkhl avayfqrgml yyqtekydla ikdlkealiq lrgnqlidyk ilglqfklfa
      121 cevlyniafm yakkeewkka eeqlalatsm kseprhskid kamecvwkqk lyepvvipvg
      181 klfrpnerqv aqlakkdylg katvvasvvd qdsfsgfapl qpqaaepppr pktpeifral
      241 egeahrvlfg fvpetkeelq vmpgnivfvl kkgndnwatv mfngqkglvp cnylepvelr
      301 ihpqqqpqee sspqsdipap psskapgrpq lspgqkqkee pkevklsvpm pytlkvhyky
      361 tvvmktqpgl pysqvrdmvs kklelrleht klsyrprdsn elvplsedsm kdawgqvkny
      421 cltlwcentv gdqgfpdepk esekadannq ttepqlkkgs qvealfsyea tqpedlefqe
      481 gdiilvlskv neewlegeck gkvgifpkvf vedcattdle strrev
//
LOCUS       NP_001353553             197 aa            linear   PRI 17-MAR-2023
DEFINITION  ceroid-lipofuscinosis neuronal protein 5 isoform 2 precursor [Homo
            sapiens].
ACCESSION   NP_001353553 XP_011533219
VERSION     NP_001353553.1
DBSOURCE    REFSEQ: accession NM_001366624.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 197)
  AUTHORS   Luebben AV, Bender D, Becker S, Crowther LM, Erven I, Hofmann K,
            Soding J, Klemp H, Bellotti C, Stauble A, Qiu T, Kathayat RS,
            Dickinson BC, Gartner J, Sheldrick GM, Kratzner R and Steinfeld R.
  TITLE     Cln5 represents a new type of cysteine-based S-depalmitoylase
            linked to neurodegeneration
  JOURNAL   Sci Adv 8 (15), eabj8633 (2022)
   PUBMED   35427157
  REMARK    GeneRIF: Cln5 represents a new type of cysteine-based
            S-depalmitoylase linked to neurodegeneration.
REFERENCE   2  (residues 1 to 197)
  AUTHORS   Basak I, Hansen RA, Ward ME and Hughes SM.
  TITLE     Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function
            and Movement
  JOURNAL   Biomolecules 11 (10), 1412 (2021)
   PUBMED   34680045
  REMARK    GeneRIF: Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal
            Function and Movement.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 197)
  AUTHORS   Magliyah MS, Geuer S, Alsalamah AK, Lenzner S, Drasdo M and Schatz
            P.
  TITLE     Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in
            CLN5 With a Recessively Inherited Macular Dystrophy
  JOURNAL   JAMA Ophthalmol 139 (3), 339-343 (2021)
   PUBMED   33507209
  REMARK    GeneRIF: Association of the Recurrent Rare Variant c.415T>C
            p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy.
REFERENCE   4  (residues 1 to 197)
  AUTHORS   de Rojas-P I, Albinana V, Recio-Poveda L, Rodriguez-Rufian A,
            Cuesta AM and Botella LM.
  TITLE     CLN5 in heterozygosis may protect against the development of tumors
            in a VHL patient
  JOURNAL   Orphanet J Rare Dis 15 (1), 132 (2020)
   PUBMED   32487141
  REMARK    GeneRIF: CLN5 in heterozygosis may protect against the development
            of tumors in a VHL patient.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 197)
  AUTHORS   Klockars T, Savukoski M, Isosomppi J, Laan M, Jarvela I, Petrukhin
            K, Palotie A and Peltonen L.
  TITLE     Efficient construction of a physical map by fiber-FISH of the CLN5
            region: refined assignment and long-range contig covering the
            critical region on 13q22
  JOURNAL   Genomics 35 (1), 71-78 (1996)
   PUBMED   8661106
REFERENCE   6  (residues 1 to 197)
  AUTHORS   Savukoski M, Kestila M, Williams R, Jarvela I, Sharp J, Harris J,
            Santavuori P, Gardiner M and Peltonen L.
  TITLE     Defined chromosomal assignment of CLN5 demonstrates that at least
            four genetic loci are involved in the pathogenesis of human ceroid
            lipofuscinoses
  JOURNAL   Am J Hum Genet 55 (4), 695-701 (1994)
   PUBMED   7942847
REFERENCE   7  (residues 1 to 197)
  AUTHORS   Mole,S.E. and Williams,R.E.
  TITLE     Neuronal Ceroid-Lipofuscinoses - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301601
REFERENCE   8  (residues 1 to 197)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   9  (residues 1 to 197)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
REFERENCE   10 (residues 1 to 197)
  AUTHORS   Carpenter,S., Karpati,G., Andermann,F., Jacob,J.C. and Andermann,E.
  TITLE     The ultrastructural characteristics of the abnormal cytosomes in
            Batten-Kufs' disease
  JOURNAL   Brain 100 Pt 1, 137-156 (1977)
   PUBMED   193610
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC001226.1.
            On Oct 12, 2018 this sequence version replaced XP_011533219.1.
            
            Summary: This gene is one of eight which have been associated with
            neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten
            disease, NCL comprises a class of autosomal recessive,
            neurodegenerative disorders affecting children. The genes
            responsible likely encode proteins involved in the degradation of
            post-translationally modified proteins in lysosomes. The primary
            defect in NCL disorders is thought to be associated with lysosomal
            storage function.[provided by RefSeq, Oct 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.126302.1,
                                           SRR1803615.156094.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..197
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q22.3"
     Protein         1..197
                     /product="ceroid-lipofuscinosis neuronal protein 5 isoform
                     2 precursor"
                     /note="ceroid-lipofuscinosis neuronal protein 5;
                     ceroid-lipofuscinosis, neuronal 5"
                     /calculated_mol_wt=17880
     sig_peptide     1..42
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=4501
     Site            24..41
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75503.2)"
     Region          58..>188
                     /region_name="CLN5"
                     /note="Ceroid-lipofuscinosis neuronal protein 5;
                     pfam15014"
                     /db_xref="CDD:434391"
     Site            130
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:24058541; propagated from
                     UniProtKB/Swiss-Prot (O75503.2)"
     Site            143
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:24058541; propagated from
                     UniProtKB/Swiss-Prot (O75503.2)"
     Site            178
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:24058541; propagated from
                     UniProtKB/Swiss-Prot (O75503.2)"
     CDS             1..197
                     /gene="CLN5"
                     /coded_by="NM_001366624.2:19..612"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS91815.1"
                     /db_xref="GeneID:1203"
                     /db_xref="HGNC:HGNC:2076"
                     /db_xref="MIM:608102"
ORIGIN      
        1 maqevdtaqg aemrrgagaa rgraswcwal allwlavvpg wsrvsgipsr rhwpvpykrf
       61 dfrpkpdpyc qakytfcptg spipvmegdd dievfrlqap vwefkygdll ghlkimhdai
      121 gfrstltgkn ytmewyelfq lgnctfphlr pemdapfwcn qgaacffegi ddvhwkengt
      181 lvqvatisdg eteaqrg
//
LOCUS       XP_006711844            1276 aa            linear   PRI 20-MAR-2023
DEFINITION  AT-rich interactive domain-containing protein 4B isoform X2 [Homo
            sapiens].
ACCESSION   XP_006711844
VERSION     XP_006711844.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006711781.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1276
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1276
                     /product="AT-rich interactive domain-containing protein 4B
                     isoform X2"
                     /calculated_mol_wt=143531
     Region          1..61
                     /region_name="Tudor_ARID4B_rpt1"
                     /note="first Tudor domain found in AT-rich interactive
                     domain-containing protein 4B (ARID4B) and similar
                     proteins; cd20460"
                     /db_xref="CDD:410531"
     Site            order(20,23,25,42,45,47)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410531"
     Region          62..118
                     /region_name="Tudor_ARID4B_rpt2"
                     /note="second Tudor domain found in AT-rich interactive
                     domain-containing protein 4B (ARID4B) and similar
                     proteins; cd20462"
                     /db_xref="CDD:410533"
     Site            order(70,74,76,93,95,97)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410533"
     Region          170..263
                     /region_name="RBB1NT"
                     /note="RBB1NT (NUC162) domain; pfam08169"
                     /db_xref="CDD:429857"
     Region          308..399
                     /region_name="ARID_ARID4B"
                     /note="ARID/BRIGHT DNA binding domain of AT-rich
                     interactive domain-containing protein 4B (ARID4B) and
                     similar proteins; cd16883"
                     /db_xref="CDD:350647"
     Site            order(329..335,360,362..363,366,377,379..381,383)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:350647"
     CDS             1..1276
                     /gene="ARID4B"
                     /gene_synonym="BCAA; BRCAA1; RBBP1L1; RBP1L1; SAP180"
                     /coded_by="XM_006711781.4:461..4291"
                     /db_xref="GeneID:51742"
                     /db_xref="HGNC:HGNC:15550"
                     /db_xref="MIM:609696"
ORIGIN      
        1 mkaldeppyl tvgtdvsaky rgafceakik takrlvkvkv tfrhdsstve vqddhikgpl
       61 kvgaivevkn ldgayqeavi nkltdaswyt vvfddgdekt lrrsslclkg erhfaesetl
      121 dqlpltnpeh fgtpvigkkt nrgrrsnhip eeessssssd ededdrkqid ellgkvvcvd
      181 yisldkkkal wfpalvvcpd csdeiavkkd nilvrsfkdg kftsvprkdv heitsdtapk
      241 pdavlkqafe qalefhksrt ipanwktelk edsssseaee eeeeeddeke kednsseeee
      301 eiepfpeere nflqqlykfm edrgtpinkr pvlgyrnlnl fklfrlvhkl ggfdniesga
      361 vwkqvyqdlg ipvlnsaagy nvkcaykkyl ygfeeycrsa niefqmalpe kvvnkqckec
      421 envkeikvke eneteikeik meeerniipr eekpiedeie rkenikpslg skknllesip
      481 thsdqekevn ikkpednenl ddkdddttrv deslnikvea eeekaksgde tnkeededde
      541 eaeeeeeeee eeededdddn neeeefecyp pgmkvqvryd ewikadkivr padknvpkik
      601 hrkkiknkld kekdkdekys pkncklrrls kppfqtnpsp emvskldltd aknsdtahik
      661 sieitsilng lqasessaed seqedergaq dmdnngkees kidhltnnrn dliskeeqns
      721 sslleenkvh adlviskpvs ksperlrkdi evlsedtdye edevtkkrkd vkkdttdkss
      781 kpqikrgkrr ycnteeclkt gspgkkeeka knkeslcmen ssnsssdede eetkakmtpt
      841 kkyngleekr kslrttgfys gfsevaekri kllnnsderl qnsrakdrkd vwssiqgqwp
      901 kktlkelfsd sdteaaaspp hpapeegvae eslqtvaeee scspsvelek pppvnvdskp
      961 ieektvevnd rkaefpssgs nsvlntpptt pespssvtvt egsrqqssvt vseplapnqe
     1021 evrsiksetd stievdsvag elqdlqsegn sspagfdasv sssssnqpep ehpekactgq
     1081 krvkdaqggg ssskkqkrsh katvvnnkkk gkgtnssdse elsagesitk sqpvksvstg
     1141 mkshstkspa rtqspgkcgk ngdkdpdlke psnrlpkvyk wsfqmsdlen mtsaeritil
     1201 qeklqeirkh ylslksevas idrrrkrlkk keresaatss sssspssssi taavmltlae
     1261 psmssasqng msvecr
//
LOCUS       XP_047288851            1166 aa            linear   PRI 20-MAR-2023
DEFINITION  integrin alpha-10 isoform X3 [Homo sapiens].
ACCESSION   XP_047288851
VERSION     XP_047288851.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432895.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1166
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1166
                     /product="integrin alpha-10 isoform X3"
                     /calculated_mol_wt=127343
     Region          41..>80
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          166..346
                     /region_name="vWA_integrins_alpha_subunit"
                     /note="Integrins are a class of adhesion receptors that
                     link the extracellular matrix to the cytoskeleton and
                     cooperate with growth factor receptors to promote celll
                     survival, cell cycle progression and cell migration.
                     Integrins consist of an alpha and a beta...; cd01469"
                     /db_xref="CDD:238746"
     Site            order(166,168,187,270,272,300,335)
                     /site_type="active"
                     /note="integrin inhibitor binding pocket [active]"
                     /db_xref="CDD:238746"
     Site            order(173,175,177,243,276)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238746"
     Site            order(175..177,179,243)
                     /site_type="active"
                     /note="integrin-collagen binding site [active]"
                     /db_xref="CDD:238746"
     Region          482..535
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          544..598
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          641..1049
                     /region_name="Integrin_alpha2"
                     /note="Integrin alpha; pfam08441"
                     /db_xref="CDD:430000"
     CDS             1..1166
                     /gene="ITGA10"
                     /gene_synonym="PRO827"
                     /coded_by="XM_047432895.1:37..3537"
                     /db_xref="GeneID:8515"
                     /db_xref="HGNC:HGNC:6135"
                     /db_xref="MIM:604042"
ORIGIN      
        1 melpfvthlf lplvfltglc spfnldehhp rlfpgppeae fgysvlqhvg ggqrwmlvga
       61 pwdgpsgdrr gdvyrcpvgg ahnapcakgh lgdyqlgnss hpavnmhlgm slletdgdgg
      121 fmacaplwsr acgssvfssg icarvdasfq pqgslaptaq rcptymdvvi vldgsnsiyp
      181 wsevqtflrr lvgklfidpe qiqvglvqyg espvhewslg dfrtkeevvr aaknlsrreg
      241 retktaqaim vactegfsqs hggrpeaarl lvvvtdgesh dgeelpaalk aceagrvtry
      301 giavlghylr rqrdpssflr eirtiasdpd erfffnvtde aaltdivdal gdrifglegs
      361 haenessfgl emsqigfsth rlkdgilfgm vgaydwggsv lwlegghrlf pprmaledef
      421 ppalqnhaay lgysvssmll rggrrlflsg aprfrhrgkv iafqlkkdga vrvaqslqge
      481 qigsyfgsel cpldtdrdgt tdvllvaapm flgpqnketg rvyvylvgqs lltlqgtlqp
      541 eppqdarfgf amgalpdlnq dgfadvavga pledghqgal ylyhgtqsgv rphpaqriaa
      601 asmphalsyf grsvdgrldl dgddlvdvav gaqgaaills srpivhltps levtpqaisv
      661 vqrdcrrrgq eavcltaalc fqvtsrtpgr wdhqfymrft asldewtaga raafdgsgqr
      721 lsprrlrlsv gnvtceqlhf hvldtsdylr pvaltvtfal dnttkpgpvl negsptsiqk
      781 lvpfskdcgp dnecvtdlvl qvnmdirgsr kapfvvrggr rkvlvsttle nrkenaynts
      841 lslifsrnlh lasltpqres pikvecaaps aharlcsvgh pvfqtgakvt fllefefscs
      901 sllsqvfvkl tassdslern gtlqdntaqt sayiqyephl lfssestlhr yevhpygtlp
      961 vgpgpefktt lrvqnlgcyv vsgliisall pavahggnyf lslsqvitnn ascivqnlte
     1021 ppgppvhpee lqhtnrlngs ntqcqvvrch lgqlakgtev svgllrlvhn effrrakfks
     1081 ltvvstfelg teegsvlqlt easrwsesll evvqtrpili slwiligsvl ggllllallv
     1141 fclwklgffa hkkipeeekr eekleq
//
LOCUS       XP_005269705            1905 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger SWIM domain-containing protein 8 isoform X1 [Homo
            sapiens].
ACCESSION   XP_005269705
VERSION     XP_005269705.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005269648.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1905
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1905
                     /product="zinc finger SWIM domain-containing protein 8
                     isoform X1"
                     /calculated_mol_wt=202736
     Region          <1020..>1161
                     /region_name="Treacle"
                     /note="Treacher Collins syndrome protein Treacle;
                     pfam03546"
                     /db_xref="CDD:427362"
     Region          <1507..>1799
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     CDS             1..1905
                     /gene="ZSWIM8"
                     /gene_synonym="KIAA0913"
                     /coded_by="XM_005269648.3:274..5991"
                     /db_xref="GeneID:23053"
                     /db_xref="HGNC:HGNC:23528"
                     /db_xref="MIM:619213"
ORIGIN      
        1 melmfaewed gerfsfedsd rfeedslcsf iseaeslcqn wrgwrkqsag pnsptggggg
       61 ggsggtrmrd glviplvels akqvafhipf evvekvyppv peqlqlriaf wsfpeneedi
      121 rlysclangs adefqrgdql frmravkdpl qigfhlsatv vppqmvppkg aynvavmfdr
      181 crvtscsctc gagakwcthv valclfrihn asavclrapv seslsrlqrd qlqkfaqyli
      241 selpqqilpt aqrlldells sqstaintvc gapdptagps asdqstwyld estltdnikk
      301 tlhkfcgpsp vvfsdvnsmy lssteppaaa ewacllrplr grepegvwnl lsivremfkr
      361 rdsnaaplle iltdqcltye qitgwwysvr tsashssasg htgrsngqse vaahacasmc
      421 demvtlwrla vldpalspqr rrelctqlrq wqlkvienvk rgqhkktler lfpgfrpave
      481 acyfnweeay plpgvtysgt drklalcwar alpsrpgasr sggleesrdr prplptepav
      541 rpkepgtkrk glgegvpssq rgprrlsaeg gdkalhkmgp gggkakalgg agsgskgsag
      601 ggskrrlsse dsslepdlae mslddsslal gaeastfggf pespppcplh ggsrgpstfl
      661 peppdtyeed ggvyfsegpe pptasvgppg llpgdvctqd dlpstdesgn glpktkeaap
      721 avgeedddyq ayylnaqdga ggeeekaegg ageehdlfag lkpleqesrm evlfacaeal
      781 hahgysseas rltvelaqdl lanppdlkve pppakgkknk vstsrqtwva tntlskaafl
      841 ltvlserpeh hnlafrvgmf alelqrppas tkalevklay qesevaallk kiplgpsems
      901 tmrcraeelr egtlcdyrpv lplmlasfif dvlcapvvsp tgsrppsrnw nsetpgdeel
      961 gfeaavaalg mkttvseaeh pllcegtrre kgdlalalmi tykddqaklk kildklldre
     1021 sqthkpqtls sfysssrptt asqrspskhg gpsapgalqp ltsgsagpaq pgsvagagpg
     1081 ptegfteknv pessphspce glpseaaltp rpegkvpsrl algsrggyng rgwgspgrpk
     1141 kkhtgmasid ssapettsds sptlsrrplr ggwaptswgr gqdsdsisss ssdslgssss
     1201 sgsrrasasg garaktvevg rykgrrpesh aphvpnqpse aaahfyfela ktvlikaggn
     1261 sstsifthps ssgghqgphr nlhlcafeig lyalglhnfv spnwlsrtys shvswitgqa
     1321 meigsaalti lvecwdghlt ppevasladr asrardsnmv raaaelalsc lphahalnpn
     1381 eiqralvqck eqdnlmleka cmaveeaakg ggvypevlfe vahqwfwlye qtaggsstar
     1441 egatscsasg iraggeagrg mpegrggpgt epvtvaaaav taaatvvpvi svgsslypgp
     1501 glghghspgl hpytalqphl pcspqylthp ahpahpmphm prpavfpvps saypqgvhpa
     1561 flgaqypysv tppslaatav sfpvpsmapi tvhpyhtepg lplptsvace lwgqgtvssv
     1621 hpastfpaiq gaslpalttq psplvsggfp ppeeethsqp vnphslhhlh aayrvgmlal
     1681 emlgrrahnd hpnnfsrspp ytddvkwllg laaklgdrhg daaaaesrsc pqppacpglp
     1741 ptgaalpagi havhppplds pdscglrrlc ecdpecpqrl lpdahghdav qrhptepqaq
     1801 qtdqgavaag ltrdghllpl slsplgsytg tqacgyggps hrgsetwldr ssslsslvaq
     1861 tdscswaiaw gqdvshprsl glgetalsgr grwvasgiyl afini
//
LOCUS       XP_047281200             522 aa            linear   PRI 20-MAR-2023
DEFINITION  actin-binding LIM protein 1 isoform X28 [Homo sapiens].
ACCESSION   XP_047281200
VERSION     XP_047281200.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425244.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..522
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..522
                     /product="actin-binding LIM protein 1 isoform X28"
                     /calculated_mol_wt=58966
     Region          86..137
                     /region_name="LIM1_abLIM"
                     /note="The first LIM domain of actin binding LIM (abLIM)
                     proteins; cd09327"
                     /db_xref="CDD:188713"
     Site            order(86,89,106,109,112,115,133,136)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188713"
     Region          142..197
                     /region_name="LIM2_abLIM"
                     /note="The second LIM domain on actin binding LIM (abLIM)
                     proteins; cd09328"
                     /db_xref="CDD:188714"
     Site            order(145,148,165,168,171,174,193,196)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188714"
     Region          213..264
                     /region_name="LIM3_abLIM"
                     /note="The third LIM domain of actin binding LIM (abLIM)
                     proteins; cd09329"
                     /db_xref="CDD:188715"
     Site            order(213,216,234,237,240,243,260,263)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188715"
     Region          272..327
                     /region_name="LIM4_abLIM"
                     /note="The fourth LIM domain of actin binding LIM (abLIM)
                     proteins; cd09330"
                     /db_xref="CDD:188716"
     Site            order(272,275,292,295,298,301,320,323)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188716"
     Region          364..>511
                     /region_name="AbLIM_anchor"
                     /note="Putative adherens-junction anchoring region of
                     AbLIM; pfam16182"
                     /db_xref="CDD:435194"
     CDS             1..522
                     /gene="ABLIM1"
                     /gene_synonym="ABLIM; abLIM-1; LIMAB1; LIMATIN"
                     /coded_by="XM_047425244.1:68..1636"
                     /db_xref="GeneID:3983"
                     /db_xref="HGNC:HGNC:78"
                     /db_xref="MIM:602330"
ORIGIN      
        1 mdveycllnp ivlhkfpkhl lgygsilsik tvtgsyhqep hgwreeedqd lrrrrgeshr
       61 kkkeqpagva hpqdphhpse kpvihchkcg epckgevlrv qtkhfhikcf tckvcgcdla
      121 qggffiknge ylctldyqrm ygtrchgcge fvegevvtal gktyhpncfa ctickrpfpp
      181 gdrvtfngrd clcqlcaqpm ssspkettfs sncagcgrdi kngqallald kqwhlgcfkc
      241 kscgkvltge yiskdgapyc ekdyqglfgv kceachqfit gkvleagdkh yhpscarcsr
      301 cnqmftegee mylqgstvwh pdckqstkte eklrlpnirr sssdffysks lirrtgrsps
      361 lqptrtsses iysrpgssip gspghtiyak vdneildykd laaipkvkai ydierpdlit
      421 yepfytsgyd dkqerqslge sprtlsptps aegyqdvrdr mihrstsqgs inspvysrhs
      481 ytpttsrspq hfhrpdqgin iyrkppiykq hvlfevilll li
//
LOCUS       XP_016872679             446 aa            linear   PRI 20-MAR-2023
DEFINITION  vitamin D 25-hydroxylase isoform X1 [Homo sapiens].
ACCESSION   XP_016872679
VERSION     XP_016872679.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017190.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..446
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..446
                     /product="vitamin D 25-hydroxylase isoform X1"
                     /calculated_mol_wt=51294
     Region          17..442
                     /region_name="cytochrome_P450"
                     /note="cytochrome P450 (CYP) superfamily; cl41757"
                     /db_xref="CDD:425388"
     Site            order(78,82,89,136,251..252,255..256,259..260,263,314,324,
                     326,349,385..387,391..395,398..399)
                     /site_type="other"
                     /note="heme binding site [chemical binding]"
                     /db_xref="CDD:410651"
     Site            order(162..163,251,254..255,259,322..325)
                     /site_type="other"
                     /note="chemical substrate binding pocket [chemical
                     binding]"
                     /db_xref="CDD:410651"
     CDS             1..446
                     /gene="CYP2R1"
                     /coded_by="XM_017017190.3:2610..3950"
                     /db_xref="GeneID:120227"
                     /db_xref="HGNC:HGNC:20580"
                     /db_xref="MIM:608713"
ORIGIN      
        1 mviflhtcch lnvvfllfsk ifsldlggis tvvlngydvv keclvhqsei fadrpclplf
       61 mkmtkmggll nsrygrgwvd hrrlavnsfr yfgygqksfe skileetkff ndaietykgr
      121 pfdfkqlitn avsnitnlii fgerftyedt dfqhmielfs envelaasas vflynafpwi
      181 gilpfgkhqq lfrnaavvyd flsrliekas vnrkpqlpqh fvdayldemd qgkndpsstf
      241 skenlifsvg eliiagtett tnvlrwailf malypniqgq vqkeidlimg pngkpswddk
      301 ckmpyteavl hevlrfcniv plgifhatse davvrgysip kgttvitnly svhfdekywr
      361 dpevfhperf ldssgyfakk ealvpfslgr rhclgehlar memflfftal lqrfhlhfph
      421 elvpdlkprl gmtlqpqpyl icaerr
//
LOCUS       XP_005271718             648 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 202 isoform X1 [Homo sapiens].
ACCESSION   XP_005271718
VERSION     XP_005271718.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005271661.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..648
                     /product="zinc finger protein 202 isoform X1"
                     /calculated_mol_wt=74590
     Region          43..153
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Region          237..297
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          397..>644
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          399..419
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(404,406,408,410..411,414..415,418,432,434,438..439,
                     442..443,446,488,490,492,494..495,498..499,502)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          427..447
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          483..503
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          511..531
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          539..559
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          567..587
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(572,574,576,578..579,582..583,586,600,602,606..607,
                     610..611,614,628,630,632,634..635,638..639,642)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          595..615
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          623..643
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..648
                     /gene="ZNF202"
                     /gene_synonym="ZKSCAN10; ZSCAN42"
                     /coded_by="XM_005271661.2:330..2276"
                     /db_xref="GeneID:7753"
                     /db_xref="HGNC:HGNC:12994"
                     /db_xref="MIM:603430"
ORIGIN      
        1 matavepedq dlweeegilm vkleddftcr pesvlqrddp vletshqnfr rfryqeaasp
       61 realirlrel chqwlrperr tkeqilellv leqfltvlpg elqswvrgqr pesgeeavtl
      121 veglqkqprr prrwvtvhvh gqevlseetv hlgvepespn elqdpvqsst peqspeettq
      181 spdlgapaeq rphqeeelqt lqesevpvpe dpdlpaerss gdsemvallt alsqglvtfk
      241 dvavcfsqdq wsdldptqke fygeyvleed cgivvslsfp iprpdeisqv reeepwvpdi
      301 qepqetqepe ilsftytgdr skdeeecleq edlsledihr pvlgepeihq tpdweivfed
      361 npgrlnerrf gtnisqvnsf vnlrettpvh pllgrhhdcs vcgksftcns hlvrhlrtht
      421 gekpykcmec gksytrsshl arhqkvhkmn apykyplnrk nleetspvtq aertpsvekp
      481 yrcddcgkhf rwtsdlvrhq rthtgekpff cticgksfsq ksvltthqri hlggkpylcg
      541 ecgedfsehr rylahrktha aeelylcsec grcfthsaaf akhlrghasv rpcrcnecgk
      601 sfsrrdhlvr hqrthtgekp ftcptcgksf srgyhlirhq rthsekts
//
LOCUS       XP_006718989             382 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 25 isoform X1 [Homo sapiens].
ACCESSION   XP_006718989
VERSION     XP_006718989.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006718926.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..382
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..382
                     /product="transmembrane protein 25 isoform X1"
                     /calculated_mol_wt=40735
     Region          27..118
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          48..52
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          62..66
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          91..94
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          104..109
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..382
                     /gene="TMEM25"
                     /coded_by="XM_006718926.3:71..1219"
                     /db_xref="GeneID:84866"
                     /db_xref="HGNC:HGNC:25890"
                     /db_xref="MIM:613934"
ORIGIN      
        1 malppgpaal rhtllllpal lssgwgelep qidgqtwaer alrenerhaf tcrvaggpgt
       61 prlawyldgq lqeastsrll svggeafsgg tstftvtahr aqhelncslq dprsgrsana
      121 svilnvqfkp eiaqvgakyq eaqgpgllvv lfalvranpp anvtwidqdg pvtvntsdfl
      181 vldaqnypwl tnhtvqlqlr slahnlsvva tndvgvtsas lpapgllatr vevpllgivv
      241 aaglalgtlv gfstlvaclv crkekktkgp srhpslissd snnlklnnvr lprenmslps
      301 nlqlndltpd sravkpadrq maqnnsrpel ldpepggllt sqacllhhgt paltnpwlph
      361 qqegalpggw spqahnstvw kl
//
LOCUS       XP_011519600             572 aa            linear   PRI 20-MAR-2023
DEFINITION  piRNA biogenesis protein EXD1 isoform X1 [Homo sapiens].
ACCESSION   XP_011519600
VERSION     XP_011519600.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521298.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..572
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..572
                     /product="piRNA biogenesis protein EXD1 isoform X1"
                     /calculated_mol_wt=64691
     Region          147..345
                     /region_name="Egl_like_exo"
                     /note="DEDDy 3'-5' exonuclease domain of Drosophila
                     Egalitarian (Egl) and similar proteins; cd06148"
                     /db_xref="CDD:99851"
     Site            order(162..165,216..217,219..221,261..262,306,310)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:99851"
     Site            order(162,164,221,306,310)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:99851"
     Site            order(163..165,216..217,219..220,261..262,306,310)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:99851"
     CDS             1..572
                     /gene="EXD1"
                     /gene_synonym="EXDL1"
                     /coded_by="XM_011521298.3:246..1964"
                     /db_xref="GeneID:161829"
                     /db_xref="HGNC:HGNC:28507"
ORIGIN      
        1 mdpssdyhfl sqilwkrvkl tlvcgvfegv lqhvdpnkiv vlkkvknvet grsvpgvklf
       61 fgheivnvel ldeveqgsvr akassvslha ertwmekmkv edlnvcepas papeapatsl
      121 lndlkyspse eeevtytvin qfqqkfgaai lhikkqnvls vaaeganvcr hgklcwlqva
      181 tncrvylfdi fllgsrafhn glqmiledkr ilkvihdcrw lsdclshqyg illnnvfdtq
      241 vadvlqfsme tggylpncit tlqeslikhl qvapkylsfl ekrqkliqen pevwfirpvs
      301 psllkilale atyllplrla lldemmsdlt tlvdgylnty regsadrlgg teptcmelpe
      361 ellqlkdfqk qrrekaarey rvnaqgllir tvlqpkklvt etagkeekvk gflfgknfri
      421 dkapsftsqd fhgdvnllke eslnkqatnp qhlppteege tsedssnkli ctkskgsedq
      481 ritqkehfmt pkhefqasls lkeeteqllm venkedlkct kqavsmssfp qetrvspsdt
      541 fypirktvvs tlppcpalek idswispfln lp
//
LOCUS       XP_047288177             487 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM227B isoform X4 [Homo sapiens].
ACCESSION   XP_047288177
VERSION     XP_047288177.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432221.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..487
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..487
                     /product="protein FAM227B isoform X4"
                     /calculated_mol_wt=57519
     Region          147..258
                     /region_name="FWWh"
                     /note="Protein of unknown function; pfam14922"
                     /db_xref="CDD:434317"
     Region          <377..461
                     /region_name="DUF5526"
                     /note="Family of unknown function (DUF5526); pfam17664"
                     /db_xref="CDD:435957"
     CDS             1..487
                     /gene="FAM227B"
                     /gene_synonym="C15orf33"
                     /coded_by="XM_047432221.1:192..1655"
                     /db_xref="GeneID:196951"
                     /db_xref="HGNC:HGNC:26543"
ORIGIN      
        1 magqrtcqrr ssragpgkmq eppksieefl kfqnwdywpr eihfrdddkw sctlkkiked
       61 ssfvsiythl wenvprifea llimesklke yslilqnhts eifkwksmis etssyrkler
      121 ygeflkkyhk kkkimgcsft gfkaneltql prhldaeqiy lfilkahnfd ervfkiwkth
      181 flseasiall hdsfwwwflh kfriypdcla qaiyatfhea fpessylfnd efkedlgnni
      241 flwcsglkpq kgfwihwklk elstttihgs kkapaksvke riadsqehis tsidfniiki
      301 lnnpraytlp iskeesrlsr latkshysst gpefnrvlfn fggqsplily ylkmhelagi
      361 skapkktkik ltkifqeplp aptyrdvike akrqfarnqk dfrmeklrin eeikllkqqq
      421 eridkeldrl qakatkkphe vkqdfekflh klrseaeier ecvaslssss ssspsstdny
      481 nfeeeey
//
LOCUS       XP_047288283             687 aa            linear   PRI 20-MAR-2023
DEFINITION  AP-4 complex subunit epsilon-1 isoform X3 [Homo sapiens].
ACCESSION   XP_047288283
VERSION     XP_047288283.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432327.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..687
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..687
                     /product="AP-4 complex subunit epsilon-1 isoform X3"
                     /calculated_mol_wt=76466
     Region          583..683
                     /region_name="AP4E_app_platf"
                     /note="Adaptin AP4 complex epsilon appendage platform;
                     pfam14807"
                     /db_xref="CDD:434228"
     CDS             1..687
                     /gene="AP4E1"
                     /gene_synonym="CPSQ4; SPG51; STUT1"
                     /coded_by="XM_047432327.1:122..2185"
                     /db_xref="GeneID:23431"
                     /db_xref="HGNC:HGNC:573"
                     /db_xref="MIM:607244"
ORIGIN      
        1 mnavfsvggd vmhpdipnnf lrllaegfdd etedqqlrly avqsyltlld menvfypqrf
       61 lqvmswvlge ysylldketp eeviaklykl lmndsvsset kawliaavtk ltsqahssnt
      121 verlihefti sldtcmrqha felkhlhenv elmksllpvd rscedlvvda slsfldgfva
      181 eglsqgaapy kpphqrqeek lsqekvlnfe pyglsfsssg ftgrqspagi slgsdvsgns
      241 aetglketns lklegikklw gkegylpkke sktgdesgal pvpqesimen vdqaitkkdq
      301 sqvltqskee kekqllassl fvglgsesti nllgkadtvs hkfrrkskvk eaksgettst
      361 hnmtcssfss lsnvayeddy ysntlhdtgd kelkkfslts elldseslte lplvekfsyc
      421 slstpslfan nnmeifhppq staasvakes slassfleet teyihsname vcnnetisvs
      481 sykiwkddcl lmvwsvtnks glelksadle ifpaenfkvt eqpgcclpvm eaestksfqy
      541 svqiekpfte gnltgfisyh mmdthsaqle fsvnlslldf irplkissdd fgklwlsfan
      601 dvkqnvkmse sqaalpsalk tlqqklrlhi ieiignegll acqllpsipc llhcrvhadv
      661 lalwfrsscs tlpdyllyqc qkvmegs
//
LOCUS       XP_047290494             511 aa            linear   PRI 20-MAR-2023
DEFINITION  paraplegin isoform X3 [Homo sapiens].
ACCESSION   XP_047290494
VERSION     XP_047290494.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434538.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..511
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..511
                     /product="paraplegin isoform X3"
                     /calculated_mol_wt=56105
     Region          145..242
                     /region_name="FtsH_ext"
                     /note="FtsH Extracellular; pfam06480"
                     /db_xref="CDD:377663"
     Region          306..477
                     /region_name="RecA-like_FtsH"
                     /note="ATP-dependent zinc metalloprotease FtsH; cd19501"
                     /db_xref="CDD:410909"
     Site            order(310..312,351..357)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:410909"
     Site            order(323,340,374,382,398,408..409,411,430..431,438,
                     441..442,457,473)
                     /site_type="other"
                     /note="hexamer interface [polypeptide binding]"
                     /db_xref="CDD:410909"
     CDS             1..511
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /coded_by="XM_047434538.1:31..1566"
                     /db_xref="GeneID:6687"
                     /db_xref="HGNC:HGNC:11237"
                     /db_xref="MIM:602783"
ORIGIN      
        1 mavlllllra lrrgpgpgpr plwgpgpaws pgfparpgrg rpymasrppg dlaeaggral
       61 qslqlrlltp tfeginglll kqhlvqnpvr lwqllggtfy fntsrlkqkn kekdkskgka
      121 peedeeerrr rerddqmyre rlrtllviav vmsllnalst sggsiswndf vhemlakgev
      181 qrvqvvpesd vvevylhpga vvfgrprlal myrmqvanid kfeeklraae delnieakdr
      241 ipvsykrtgf fgnalysvgm tavglailwy vfrlagmtgr eggfsafnql kmarftivdg
      301 kmgkgvsfkd vagmheakle vrefvdylks perflqlgak vpkgalllgp pgcgktllak
      361 avateaqvpf lamagpefve vigglgaarv rslfkearar apcivyidei davgkkrstt
      421 msgfsnteee qtlnqllvem dgmgttdhvi vlastnradi ldgalmrpgr ldrhvfidlp
      481 tlqrkgvals prlecsaait thcglnlqgs s
//
LOCUS       XP_047291629            1453 aa            linear   PRI 20-MAR-2023
DEFINITION  G patch domain-containing protein 8 isoform X2 [Homo sapiens].
ACCESSION   XP_047291629
VERSION     XP_047291629.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435673.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1453
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1453
                     /product="G patch domain-containing protein 8 isoform X2"
                     /calculated_mol_wt=158241
     Region          58..85
                     /region_name="zf-C2H2_jaz"
                     /note="Zinc-finger double-stranded RNA-binding; pfam12171"
                     /db_xref="CDD:432381"
     CDS             1..1453
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /coded_by="XM_047435673.1:4926..9287"
                     /db_xref="GeneID:23131"
                     /db_xref="HGNC:HGNC:29066"
                     /db_xref="MIM:614396"
ORIGIN      
        1 mgmgrmemel dyaedaterr rvlevekedt eelrqkykdy vdkekaiaka ledlranfyc
       61 elcdkqyqkh qefdnhinsy dhahkqegtq dyyeseiiad vlkanpsnlg aqitrrlkdl
      121 kqrefarnvs srsrkdekkq ekalrrlhel aeqrkqaeca pgsgpmfkpt tvavdeegge
      181 ddkdesatns gtgatascgl gsefstdkgg pftavqitnt tglaqapgla sqgisfgikn
      241 nlgtplqklg vsfsfakkap vklesiasvf kdhaeegtse dgtkpdekss dqglqkvgds
      301 dgssnldgkk ededpqdggs lastlsklkr mkreegagat epeyyhyipp ahckvkpnfp
      361 fllfmraseq mdgdntthpk napeskkgss pkpkscikaa asqgaektvs evseqpkets
      421 mtepsepgsk aeakkalggd vsdqsleshs qkvsetqmce snssketsla tpagkesqeg
      481 pkhptgpffp vlskdestal qwpsellift kaepsisysc nplyfdfkls rnkdartkgt
      541 ekpkdigsss kdhlqgldpg epnkskevgg ekivrssggr mdapasgsac sglnkqepgg
      601 shgsetedtg rslpskkers gkshrhkkkk khkksskhkr khkadteeks skaesgeksk
      661 krkkrkrkkn kssapadser gpkpeppgsg spapprrrrr aqddsqrrsl paeegssgkk
      721 deggggsssq dhggrkhkge lppsscqrra gtkrssrssh rsqpssgded sddasshrlh
      781 qkspsqysee eeeedsgseh srsrsrsgrr hsshrssrrs yssssdassd qscysrqrsy
      841 sddsysdysd rsrrhskrsh dsddsdyass khrskrhkys ssdddyslsc sqsrsrsrsh
      901 trersrsrgr srssscsrsr skrrsrstta hswqrsrsys rdrsrstrsp sqrsgsrkrs
      961 wghespeerh sgrrdfirsk iyrsqsphyf rsgrgegpgk kddgrgddsk atgppsqnsn
     1021 igtgrgsegd cspedknsvt aklllekiqs rkverkpsvs eevqatpnka gpklkdppqg
     1081 yfgpklppsl gnkpvlplig klpatrkpnk kceesglerg eeqeqsetee gppgssdalf
     1141 ghqfpseett gplldpppee sksgeatadh pvaplgtpah sdcypgdpti shnylpdpsd
     1201 gdtlesldss sqpgpvessl lpiapdlehf psyappsgdp siestdgaed aslaplesqp
     1261 itftpeemek ysklqqaaqq hiqqqllakq vkafpasaal apatpalqpi hiqqpatasa
     1321 tsittvqhai lqhhaaaaaa aigihphphp qplaqvhhip qphltpisls hlthsiipgh
     1381 patflashpi hiipasaihp gpftfhpvph aalyptllap rpaaaaatal hlhpllhpif
     1441 sgqdlqhpps hgt
//
LOCUS       XP_005257281             382 aa            linear   PRI 20-MAR-2023
DEFINITION  fatty acid desaturase 6 isoform X1 [Homo sapiens].
ACCESSION   XP_005257281
VERSION     XP_005257281.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005257224.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Feb 3, 2014 this sequence version replaced XP_005257281.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..382
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..382
                     /product="fatty acid desaturase 6 isoform X1"
                     /calculated_mol_wt=43159
     Region          <1..33
                     /region_name="Amelogenin"
                     /note="pfam02948"
                     /db_xref="CDD:397207"
     Region          100..338
                     /region_name="FA_desaturase"
                     /note="Fatty acid desaturase; pfam00487"
                     /db_xref="CDD:425713"
     CDS             1..382
                     /gene="FADS6"
                     /gene_synonym="FP18279"
                     /coded_by="XM_005257224.6:39..1187"
                     /db_xref="GeneID:283985"
                     /db_xref="HGNC:HGNC:30459"
ORIGIN      
        1 meptepmept epmeptepme ptepmeptep meparsahrg geallrelev lvqdvvrtss
       61 wwerhgvdca ilalslfalp agflclrwen alvfasgiti lgvchytltv kgshlathga
      121 lteskrwski wllffvevct aftaehathg hvkmhhaytn vvglgdsstw rlpclnryvy
      181 mflapfllpi atplvaverl rkvelgtalr tlalislgly shywlllnvs gfknpssalg
      241 cmfltrslla hpylhvnifq higlpmfsrd nkprrihmms lgvlnlarlp vldwafghsi
      301 ischvehhlf prlsdnmclk vkpvvsqflr ekqlpyneds ylarfqlflr ryeefmafld
      361 pqpkepvqdt gsavpqatvs ar
//
LOCUS       XP_006722457             224 aa            linear   PRI 20-MAR-2023
DEFINITION  cerebellin-2 isoform X1 [Homo sapiens].
ACCESSION   XP_006722457
VERSION     XP_006722457.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006722394.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..224
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..224
                     /product="cerebellin-2 isoform X1"
                     /calculated_mol_wt=23953
     Region          86..224
                     /region_name="C1q"
                     /note="C1q domain; cl23878"
                     /db_xref="CDD:420072"
     CDS             1..224
                     /gene="CBLN2"
                     /coded_by="XM_006722394.4:1107..1781"
                     /db_xref="GeneID:147381"
                     /db_xref="HGNC:HGNC:1544"
                     /db_xref="MIM:600433"
ORIGIN      
        1 mqapgrgplg lrlmmpgrrg alrepggcgs clgvalalll lllpaccpvr aqndtepivl
       61 egkclvvcds spsadgavts slgisvrsgs akvafsatrs tnhepsemsn rtmtiyfdqv
      121 lvnignhfdl assifvaprk giysfsfhvv kvynrqtiqv slmqngypvi safagdqdvt
      181 reaasngvll lmeredkvhl klergnlmgg wkystfsgfl vfpl
//
LOCUS       XP_047293683             897 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA endonuclease RBBP8 isoform X1 [Homo sapiens].
ACCESSION   XP_047293683
VERSION     XP_047293683.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437727.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..897
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..897
                     /product="DNA endonuclease RBBP8 isoform X1"
                     /calculated_mol_wt=101811
     Region          20..138
                     /region_name="CtIP_N"
                     /note="tumor-suppressor protein CtIP N-terminal domain;
                     pfam10482"
                     /db_xref="CDD:431306"
     Region          797..857
                     /region_name="SAE2"
                     /note="DNA repair protein endonuclease SAE2/CtIP
                     C-terminus; pfam08573"
                     /db_xref="CDD:430084"
     CDS             1..897
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JWDS; RIM; SAE2; SCKL2"
                     /coded_by="XM_047437727.1:497..3190"
                     /db_xref="GeneID:5932"
                     /db_xref="HGNC:HGNC:9891"
                     /db_xref="MIM:604124"
ORIGIN      
        1 mnisgsscgs pnsadtssdf kdlwtklkec hdrevqglqv kvtklkqeri ldaqrleeff
       61 tknqqlreqq kvlhetikvl edrlraglcd rcavteehmr kkqqefenir qqnlklitel
      121 mnerntlqee nkklseqlqq kiendqqhqa aeleceedvi pdspitafsf sgvnrlrrke
      181 nphvryieqt htklehsvca nemrkvskss thpqhnpnen eilvadtydq sqspmakahg
      241 tssytpdkss fnlatvvaet lglgvqeese tqgpmsplgd elyhclegnh kkqpfeestr
      301 ntedslrfsd stsktppqee lptrvsspvf gatssiksgl dlntslspsl lqpgkkkhlk
      361 tlpfsntcis rlektrskse dsalfthhsl gsevnkiiiq ssnkqilink niseslgeqn
      421 rteygkdsnt dkhleplksl ggrtskrkkt eeesehevsc pqasfdkena fpfpmdnqfs
      481 mngdcvmdkp ldlsdrfsai qrqeksqgse tsknkfrqvt lyealktipk gfsssrkasd
      541 gnctlpkdsp gepcsqecii lqplnkcspd nkpslqikee navfkiplrp resletenvl
      601 ddiksagshe pikiqtrsdh ggcelasvlq lnpcrtgkik slqnnqdvsf eniqwsidpg
      661 adlsqykmdv tvidtkdgsq sklggetvdm dctlvsetvl lkmkkqeqkg ekssneerkm
      721 ndsledmfdr ttheeyescl adsfsqaade eeelstatkk lhthgdkqdk vkqkafvepy
      781 fkgderetsl qnfphievvr kkeerrkllg htckeceiyy admpaeerek klascsrhrf
      841 ryippntpen fwevgfpstq tcmergyike dldpcprpkr rqpynaifsp kgkeqkt
//
LOCUS       XP_016882372             118 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA-directed RNA polymerases I, II, and III subunit RPABC1 isoform
            X2 [Homo sapiens].
ACCESSION   XP_016882372
VERSION     XP_016882372.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017026883.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..118
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..118
                     /product="DNA-directed RNA polymerases I, II, and III
                     subunit RPABC1 isoform X2"
                     /calculated_mol_wt=13504
     Region          <1..117
                     /region_name="PLN03111"
                     /note="DNA-directed RNA polymerase II subunit family
                     protein; Provisional; cl42850"
                     /db_xref="CDD:456195"
     CDS             1..118
                     /gene="POLR2E"
                     /gene_synonym="hRPB25; hsRPB5; RPABC1; RPB5; XAP4"
                     /coded_by="XM_017026883.3:165..521"
                     /db_xref="GeneID:5434"
                     /db_xref="HGNC:HGNC:9192"
                     /db_xref="MIM:180664"
ORIGIN      
        1 mqeenitral ivvqqgmtps akqslvdmap kyileqflqq ellinitehe lvpehvvmtk
       61 eevtellary sklrenqlpr iqagdpvary fgikrgqvvk iirpsetagr yityrlvq
//
LOCUS       XP_011525645             353 aa            linear   PRI 20-MAR-2023
DEFINITION  protein fuzzy homolog isoform X4 [Homo sapiens].
ACCESSION   XP_011525645
VERSION     XP_011525645.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011527343.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..353
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..353
                     /product="protein fuzzy homolog isoform X4"
                     /calculated_mol_wt=38524
     Region          12..347
                     /region_name="Fuzzy"
                     /note="protein fuzzy and homologs; cl40581"
                     /db_xref="CDD:424212"
     CDS             1..353
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /coded_by="XM_011527343.2:187..1248"
                     /db_xref="GeneID:80199"
                     /db_xref="HGNC:HGNC:26219"
                     /db_xref="MIM:610622"
ORIGIN      
        1 mgeegtggtv hllclaassg vplfcrssrg gaparqqlpf svigslngvh mfgqnlevql
       61 ssartenttv vwksfhdsit livlssevgi selrlerllq mvfgamvllv gleeltnirn
      121 verlkkdlra syclidsflg dseligdltq cvdcvippeg sllqealsgf aeaagttfvs
      181 lvvsgrvvaa tegwwrlgtp eavllpwlvg slppqtardy pvylphgspt vphrlltltl
      241 lpslelcllc gpspplsqly pqllerwwqp lldplraclp lgpralpsgf plhtdilgll
      301 llhlelkrcl ftveplgdka epspeqrrrl lrnfytlvts thfppvplhv mke
//
LOCUS       XP_047299799            1882 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 131 isoform X4 [Homo sapiens].
ACCESSION   XP_047299799
VERSION     XP_047299799.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443843.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1882
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1882
                     /product="transmembrane protein 131 isoform X4"
                     /calculated_mol_wt=204879
     Region          109..191
                     /region_name="ASH"
                     /note="Abnormal spindle-like microcephaly-assoc'd,
                     ASPM-SPD-2-Hydin; cl13764"
                     /db_xref="CDD:449188"
     Region          342..>1213
                     /region_name="TMEM131_like"
                     /note="Transmembrane protein 131-like; pfam19532"
                     /db_xref="CDD:437364"
     CDS             1..1882
                     /gene="TMEM131"
                     /gene_synonym="CC28; PRO1048; RW1; YR-23"
                     /coded_by="XM_047443843.1:287..5935"
                     /db_xref="GeneID:23505"
                     /db_xref="HGNC:HGNC:30366"
                     /db_xref="MIM:615659"
ORIGIN      
        1 mgkragggat gattaavsts agaglepaaa rsggprsaaa gllgalhlvm tlvvaaarae
       61 keafvqsesi ievlrfddgg llqtettlgl ssyqqksisl yrgncrpirf eppmldfheq
      121 pvgmpkmekv ylhnpsseet itlvsisatt shfhasffqn rkilpggnts fdvvflarvv
      181 gnventlfin tsnhgvftyq vfgvgvpnpy rlrpflgarv pvnssfspii nihnphsepl
      241 qvvemyssgg dlhlelptgq qggtrklwei ppyetkgvmr asfssreadn htafiriktn
      301 asdstefiil pvevevttap giysstemld fgtlrtqdlp kvlnlhllns gtkdvpitsv
      361 rptpqndait vhfkpitlka seskytkvas isfdaskakk psqfsgkitv kakeksyskl
      421 eipyqaevld gylgfdhaat lfhirdspad pverpiyltn tfsfailihd vllpeeaktm
      481 fkvhnfskpv lilpnesgyi ftllfmpsts smhidnnill itnaskfhlp vrvytgfldy
      541 fvlppkieer fidfgvlsat easnilfaii nsnpielaik swhiigdgls ielvavergn
      601 rttiisslpe feksslsdqs svtlasgyfa vfrvkltakk legihdgaiq ittdyeilti
      661 pvkaviavgs ltcfpkhvvl ppsfpgkivh qslnimnsfs qkvkiqqirs lsedvrfyyk
      721 rlrgnkedle pgkkskiani yfdpglqcgd hcyvglpfls ksepkvqpgv amqedmwdad
      781 wdlhqslfkg wtgikensgh rlsaifevnt dlqkniiski taelswpsil ssprhlkfpl
      841 tntncsseee itlenpadvp vyvqfiplal ysnpsvfvdk lvsrfnlskv akidlrtlef
      901 qvfrnsahpl qsstgfmegl srhlilnlil kpgekksvkv kftpvhnrtv ssliivrnnl
      961 tvmdavmvqg qgttenlrva gklpgpgssl rfkiteallk dctdslklre pnftlkrtfk
     1021 ventgqlqih ietieisgys cegygfkvvn cqeftlsana srdiiilftp dftasrvire
     1081 lkfittsgse fvfilnaslp yhmlatcaea lprpnwelal yiiisgimsa lfllvigtay
     1141 leaqgiwepf rrrlsfeasn ppfdvgrpfd lrrivgisse gnlntlscdp ghsrgfcgag
     1201 gsssrpsags hkqcgpsvhp hsshsnrnsa dvenvrakns sstssrtsaq aassqsankt
     1261 splvldsntv tqghtagrks kgakqsqhgs qhhahspleq hpqpplpppv pqpqepqper
     1321 lspaplahps hperassarh ssedsditsl ieamdkdfdh hdspalevft eqppsplpks
     1381 kgkgkplqrk vkppkkqeek ekkgkgkpqe delkdsladd dssstttets npdtepllke
     1441 dtekqkgkqa mpekhesems qvkqkskkll nikkeiptdv kpsslelpyt ppleskqrrn
     1501 lpskiplpta mtsgsksrna qktkgtsklv dnrppalakf lpnsqelgnt sssegekdsp
     1561 ppewdsvpvh kpgsstdsly klslqtlnad iflkqrqtsp tpaspsppaa pcpfvargsy
     1621 ssivnsssss dpkikqpngs khkltkaasl pgkngnptfa avtagydksp ggngfakvss
     1681 nktgfssslg ishapvdsdg sdssglwspv snpsspdftp lnsfsafgns fnltgvfskl
     1741 glsrscnqas qrswnefnsg psylwespat dpspswpass gspthtatsv lgntsglwst
     1801 tpfsssiwss nlssalpftt pantlasigl mgtenspaph apstsspadd lgqtynpwri
     1861 wsptigrrss dpwsnshfph en
//
LOCUS       XP_047300596             225 aa            linear   PRI 20-MAR-2023
DEFINITION  insulin-induced gene 2 protein isoform X1 [Homo sapiens].
ACCESSION   XP_047300596
VERSION     XP_047300596.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444640.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..225
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..225
                     /product="insulin-induced gene 2 protein isoform X1"
                     /calculated_mol_wt=24647
     Region          30..211
                     /region_name="INSIG"
                     /note="Insulin-induced protein (INSIG); pfam07281"
                     /db_xref="CDD:429380"
     CDS             1..225
                     /gene="INSIG2"
                     /gene_synonym="INSIG-2"
                     /coded_by="XM_047444640.1:649..1326"
                     /db_xref="GeneID:51141"
                     /db_xref="HGNC:HGNC:20452"
                     /db_xref="MIM:608660"
ORIGIN      
        1 maegetespg pkkcgpyiss vtsqsvnlmi rgvvlffigv flalvlnllq iqrnvtlfpp
       61 dviasifssa wwvppccgta savigllypc idrhlgephk fkrewssvmr cvavfvginh
      121 asakvdfdnn iqlsltlaal siglwwtfdr srsgfglgvg iaflatvvtq llvyngvyqy
      181 tspdflyvrs wlpciffagg itmgnigrql amyeckviae kshqe
//
LOCUS       XP_047304226             281 aa            linear   PRI 20-MAR-2023
DEFINITION  palmitoyltransferase ZDHHC3 isoform X11 [Homo sapiens].
ACCESSION   XP_047304226
VERSION     XP_047304226.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448270.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..281
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..281
                     /product="palmitoyltransferase ZDHHC3 isoform X11"
                     /calculated_mol_wt=31691
     Region          52..>194
                     /region_name="DHHC"
                     /note="DHHC palmitoyltransferase; cl19890"
                     /db_xref="CDD:418707"
     Region          128..276
                     /region_name="DHHC"
                     /note="DHHC palmitoyltransferase; pfam01529"
                     /db_xref="CDD:396215"
     CDS             1..281
                     /gene="ZDHHC3"
                     /gene_synonym="DHHC-3; DHHC3; GODZ; ZNF373"
                     /coded_by="XM_047448270.1:267..1112"
                     /db_xref="GeneID:51304"
                     /db_xref="HGNC:HGNC:18470"
                     /db_xref="MIM:617150"
ORIGIN      
        1 mmlipthhfr nierkpeylq pekcvpppyp gpvgtmwfir dgcgiacaiv twflvlyaef
       61 vvlfvmlips rdyvysiing ivfnllafla lashcramlt dpgavpkgna tkefieslql
      121 kpgqvvykcp kccsikpdra hhcsvckrci rkmdhhcpwv nncvgennqk yfvlftmyia
      181 lislhalimv gfhflhcfee dwttyglnre emaetgislh ekmqplnfss tecssfsppt
      241 tvillillcf egllflifts vmfgtqvhsi ctdettcsas a
//
LOCUS       XP_047305890            1575 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor L3 isoform X3 [Homo sapiens].
ACCESSION   XP_047305890
VERSION     XP_047305890.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449934.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1575
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1575
                     /product="adhesion G protein-coupled receptor L3 isoform
                     X3"
                     /calculated_mol_wt=175411
     Region          97..195
                     /region_name="Gal_Rha_Lectin_LPHN3"
                     /note="galactose/rhamnose binding lectin domain found in
                     latrophilin-3 and similar proteins; cd22846"
                     /db_xref="CDD:438703"
     Site            order(99,102,104,107,112..117,132..135,193)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:438703"
     Site            order(105..106,136..137,139..140,142,179,182)
                     /site_type="other"
                     /note="octamer interface [polypeptide binding]"
                     /db_xref="CDD:438703"
     Site            order(160..161,195)
                     /site_type="other"
                     /note="NAG binding site [chemical binding]"
                     /db_xref="CDD:438703"
     Region          205..461
                     /region_name="OLF"
                     /note="Olfactomedin-like domains; smart00284"
                     /db_xref="CDD:128580"
     Region          558..622
                     /region_name="HormR"
                     /note="Domain present in hormone receptors; smart00008"
                     /db_xref="CDD:214468"
     Region          631..851
                     /region_name="GAIN"
                     /note="GPCR-Autoproteolysis INducing (GAIN) domain;
                     pfam16489"
                     /db_xref="CDD:435371"
     Region          877..929
                     /region_name="GPS"
                     /note="G-protein-coupled receptor proteolytic site domain;
                     smart00303"
                     /db_xref="CDD:197639"
     Region          937..1203
                     /region_name="7tmB2_Latrophilin-3"
                     /note="Latrophilin-3, member of the class B2 family of
                     seven-transmembrane G protein-coupled receptors; cd16005"
                     /db_xref="CDD:320671"
     Region          939..964
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320671"
     Site            order(944,948,990,993..994,997,1004,1011,1083..1084,1086,
                     1088,1153,1156,1168,1172)
                     /site_type="other"
                     /note="putative polypeptide ligand binding pocket
                     [polypeptide binding]"
                     /db_xref="CDD:320671"
     Region          973..995
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320671"
     Region          1004..1031
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320671"
     Region          1043..1063
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320671"
     Region          1080..1109
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320671"
     Region          1125..1161
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320671"
     Region          1165..1190
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320671"
     Region          1203..1575
                     /region_name="Latrophilin"
                     /note="Latrophilin Cytoplasmic C-terminal region;
                     pfam02354"
                     /db_xref="CDD:426735"
     CDS             1..1575
                     /gene="ADGRL3"
                     /gene_synonym="CIRL3; CL3; LEC3; LPHN3"
                     /coded_by="XM_047449934.1:288..5015"
                     /db_xref="GeneID:23284"
                     /db_xref="HGNC:HGNC:20974"
                     /db_xref="MIM:616417"
ORIGIN      
        1 mwpsqllifm mllapiihgg khserhpala aplrhaersp ggalpprhll qqpaaertaa
       61 hrgqgprgat rgvrgpgaqg aqiaaqafsr apipmavvrr elscesypie lrcpgtdvim
      121 iesanygrtd dkicdsdpaq menircylpd aykimsqrcn nrtqcavvag pdvfpdpcpg
      181 tykylevqye cvpykveqkv flcpgllkgv yqsehlfesd hqsgawckdp lqasdkiyym
      241 pwtpyrtdtl teysskddfi agrptttykl phrvdgtgfv vydgalffnk ertrnivkfd
      301 lrtriksgea iiananyhdt spyrwggksd idlavdengl wviyateqnn gkivisqlnp
      361 ytlriegtwd taydkrsasn afmicgilyv vksvyedddn eatgnkidyi yntdqskdsl
      421 vdvpfpnsyq yiaavdynpr dnllyvwnny hvvkysldfg pldsrsgqah hgqvsyispp
      481 ihldselerp svkgplgmgs tttsttlrtt tlspgrsttp svsgrrnrst stpspavevl
      541 ddmtthlpsa ssqipalees ceaveareim wfktrqgqia kqpcpagtig vstylclapd
      601 giwdpqgpdl sncsspwvnh itqklksget aaniarelae qtrnhlnagd itysvramdq
      661 lvglldvqlr nltpggkdsa arslnklqkr erscrayvqa mvetvnnllq pqalnawrdl
      721 ttsdqlraat mllhtveesa fvladnllkt divrentdni klevarlste gnledlkfpe
      781 nmghgstiql santlkqngr ngeirvafvl ynnlgpylst enasmklgte alstnhsviv
      841 nspvitaain kefsnkvyla dpvvftvkhi kqseenfnpn csfwsyskrt mtgywstqgc
      901 rllttnktht tcscnhltnf avlmahvevk hsdavhdlll dvitwvgill slvcllicif
      961 tfcffrglqs drntihknlc islfvaellf liginrtdqp iacavfaall hffflaaftw
     1021 mflegvqlyi mlvevfeseh srrkyfylvg ygmpalivav saavdyrsyg tdkvcwlrld
     1081 tyfiwsfigp atliimlnvi flgialykmf hhtailkpes gcldninyed nrpfikswvi
     1141 gaiallcllg ltwafglmyi nestvimayl ftifnslqgm fififhcvlq kkvrkeygkc
     1201 lrthccsgks tessigsgkt sgsrtpgrys tgsqsrirrm wndtvrkqse ssfitgdins
     1261 saslnrgama nhlisnallr phgtnnpynt llgepavcnn psvsmynaqe gllnnardts
     1321 vmdtlplngn hgnsysiasg eylsncvqii drgynhneta lekkilkelt snyipsylnn
     1381 hersseqnrn lmnklvnnlg sgreddaivl ddatsfnhee slglelihee sdapllpprv
     1441 ystenhqphh ytrrripqdh sesffplltn ehtedlqsph rdslytsmpt lagvaatesv
     1501 ttstqteppp akcgdaedvy yksmpnlgsr nhvhqlhtyy qlgrgssdgf ivppnkdgtp
     1561 pegsskgpah lvtsl
//
LOCUS       XP_047273238             937 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM13B isoform X1 [Homo sapiens].
ACCESSION   XP_047273238
VERSION     XP_047273238.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417282.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..937
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..937
                     /product="protein FAM13B isoform X1"
                     /calculated_mol_wt=106914
     Region          19..205
                     /region_name="RhoGAP_FAM13A1a"
                     /note="RhoGAP (GTPase-activator protein [GAP] for Rho-like
                     small GTPases) domain of FAM13A1, isoform a-like proteins.
                     The function of FAM13A1a is unknown. Small GTPases cluster
                     into distinct families, and all act as molecular switches,
                     active in their GTP-bound...; cd04393"
                     /db_xref="CDD:239858"
     Site            order(62,99,103,172,175..176,198)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239858"
     Site            62
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239858"
     Region          879..918
                     /region_name="RecQL4_SLD2_NTD"
                     /note="N-terminal homeodomain-like domain of metazoan RecQ
                     protein-like 4 (RecQL4), fungal DNA replication regulator
                     SLD2 and similar proteins; cd22289"
                     /db_xref="CDD:412085"
     CDS             1..937
                     /gene="FAM13B"
                     /gene_synonym="ARHGAP49; C5orf5; FAM13B1; KHCHP; N61"
                     /coded_by="XM_047417282.1:597..3410"
                     /db_xref="GeneID:51306"
                     /db_xref="HGNC:HGNC:1335"
                     /db_xref="MIM:609371"
ORIGIN      
        1 mrkssspsls ncnsvlanki fgipldelqq gghpdnevpf ivrhvvdyie ehggleqqgl
       61 fqvngnaetv ewlrqrydsg eevdlvkead vpsaisllrf flqelpepvi pgslhihlmq
      121 lsqdynnede fgrklrfllq qlppvnysll kflcrflanv ashheeiwsa nslaavfgpd
      181 vfhiytdved mkeqeivsri magllenyye ffeneeedfs sndlssiteq vnelseeeee
      241 deklehieel peegaeksnd mpevvqlrmt enilesnsvt atsthispis ilpastdile
      301 rtiraaveqh lfdlqssidh dlknlqqqsv vcnneaesih cdgegsnnqi diaddiinas
      361 esnrdcskpv astnldneam qqdcvfenee ntqsvgille pcsdrgdsed gclereeyll
      421 fdsdklshli ldssskicdl nantesevpg gqsvgvqgea acvsiphldl knvsdgdkwe
      481 ascpitfpli dfktmhlqrd geepfpafks wqedsesgea qlspqagrmn hhpleedcpp
      541 vlshrsldfg qsqrflhdpe kldssskals ftrirrssfs skdekredrt pyqlvkklqk
      601 kirqfeeqfe rernskpsys diaanpkvlk wmteltklrk qikdakhkns dgefvpqtrp
      661 rsntlpksfg ssldhedeen edepkviqke kkpskeatle lilkrlkekr ierclpedik
      721 kmtkdhlvee kaslqkslly yesqhgrpvt keerhivkpl ydryrlvkqm ltrasitpvl
      781 gspstkrrgq mlqpiieget ahffeeikee eedgvnlsse lgdmlktavq vqsslenses
      841 dveenqekla ldlrlsssra asmpelleql wkaraekkkl rktlrefeea fyqqngrnaq
      901 kedrvpvlee yreykkikak lrllevlisk qdssksi
//
LOCUS       XP_011514127            1414 aa            linear   PRI 20-MAR-2023
DEFINITION  Homeobox protein cut-like 1 isoform X13 [Homo sapiens].
ACCESSION   XP_011514127
VERSION     XP_011514127.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011515825.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1414
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1414
                     /product="Homeobox protein cut-like 1 isoform X13"
                     /calculated_mol_wt=154734
     Region          <34..375
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          456..532
                     /region_name="CUT"
                     /note="CUT domain; pfam02376"
                     /db_xref="CDD:426745"
     Region          656..>842
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          848..916
                     /region_name="CUT"
                     /note="CUT domain; pfam02376"
                     /db_xref="CDD:426745"
     Region          1031..1108
                     /region_name="CUT"
                     /note="CUT domain; pfam02376"
                     /db_xref="CDD:426745"
     Site            order(1154..1158,1160,1177,1183,1196,1198..1199,
                     1202..1203,1205..1207,1209..1210)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          1156..1209
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     Site            order(1156,1159,1199,1202..1203,1206)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          <1223..>1296
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     CDS             1..1414
                     /gene="CUX1"
                     /gene_synonym="CASP; CDP; CDP/Cut; CDP1; Clox; COY1;
                     CUTL1; CUX; Cux/CDP; GDDI; GOLIM6; Nbla10317; p100; p110;
                     p200; p75"
                     /coded_by="XM_011515825.3:25..4269"
                     /db_xref="GeneID:1523"
                     /db_xref="HGNC:HGNC:2557"
                     /db_xref="MIM:116896"
ORIGIN      
        1 maanvgsmfq ywkrfdlqql qreldatatv lanrqdeseq srkrlieqsr efkkntpedl
       61 rkqvapllks fqgeidalsk rskeaeaafl nvykrlidvp dpvpaldlgq qlqlkvqrlh
      121 dietenqklr etleeynkef aevknqevti kalkekirey eqtlknqaet ialekeqklq
      181 ndfaekerkl qetqmsttsk leeaehkvqs lqtalektrt elfdlktkyd eettakadei
      241 emimtdlera nqraevaqre aetlreqlss anhslqlasq iqkapdveqa ievltrssle
      301 velaakerei aqlvedvqrl qasltklren sasqisqleq qlsaknstlk qleeklkgqa
      361 dyeevkkeln ilksmefaps egagtqdaak plevlllekn rslqsenaal risnsdlsgp
      421 ystnsissqs plqqspdvng mapspsqses agsvsegeem dtaeiarqvk eqlikhnigq
      481 rifghyvlgl sqgsvseila rpkpwnkltv rgkepfhkmk qflsdeqnil alrsiqgrqr
      541 enpgqslnrl fqevpkrrng segnittrir asetgsdeai ksileqakre lqvqktaepa
      601 qpssasgsgn sddairsilq qarremeaqq aaldpalkqa plsqsditil tpkllstspm
      661 ptvssyppla islkkpsaap eagasalpnp palkkeaqda pgldpqgaad caqgvlrqvk
      721 nevgrsgawk dhwwsavqpe rrnaasseea kaeetgggke kgsggsgggs qpraersqlq
      781 gpssseywke wpsaespysq sselsltgas rsetpqnspl psspivpmsk ptkpsvpplt
      841 peqyevymyq evdtieltrq vkeklakngi cqrifgekvl glsqgsvsdm lsrpkpwskl
      901 tqkgrepfir mqlwlngelg qgvlpvqgqq qgpvlhsvts lqdplqqgcv ssestpktsa
      961 scspapespm sssesvkslt elvqqpcppi easkdskppe psdppasdsq pttplplsgh
     1021 salsiqelva mspeldtygi tkrvkevltd nnlgqrlfge tilgltqgsv sdllarpkpw
     1081 hklslkgrep fvrmqlwlnd pnnveklmdm krmekkaymk rrhssvsdsq pceppsvgte
     1141 ysqgaspqpq hqlkkprvvl apeekealkr ayqqkpypsp ktiedlatql nlktstvinw
     1201 fhnyrsrirr elfieeiqag sqgqagasds psarsgraap ssegdscdgv eategpgsad
     1261 teepksqgea ereevprpae qtepppsgtp gpddardddh eggpvegpgp lpspasatat
     1321 aapaapedaa tsaaaapgeg paapssappp snsssssapr rpsslqslfg lpeaagards
     1381 rdnplrkkka anlnsiihrl ekaasreepi ewef
//
LOCUS       XP_047276946             275 aa            linear   PRI 20-MAR-2023
DEFINITION  Golgi-associated RAB2 interactor protein 1B isoform X4 [Homo
            sapiens].
ACCESSION   XP_047276946
VERSION     XP_047276946.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420990.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..275
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..275
                     /product="Golgi-associated RAB2 interactor protein 1B
                     isoform X4"
                     /calculated_mol_wt=30669
     Region          78..141
                     /region_name="DUF3699"
                     /note="Protein of unknown function (DUF3699); pfam12480"
                     /db_xref="CDD:432585"
     CDS             1..275
                     /gene="GARIN1B"
                     /gene_synonym="FAM137A; FAM71F1; GARI-L1; GARIL1;
                     NYD-SP18"
                     /coded_by="XM_047420990.1:198..1025"
                     /db_xref="GeneID:84691"
                     /db_xref="HGNC:HGNC:30704"
                     /db_xref="MIM:619905"
ORIGIN      
        1 malgvtssvp clplpnillm asvkwhqgqn qtwnrpsiap niflkslspk gdlphfnedr
       61 vrldaiglsv cvfpggfril plrfvelqvc dhyqrilqlr tvtekiyylk lhpdhpetvf
      121 hfwirlvqil qkglsittkd prilvthclv pkncsspsgd sklvqkklqa sqpsesliql
      181 mtkgeseals qifadlhqqn qlrssrkvet nknssgkdss redsipctcd lrwrasftyg
      241 ewerenpsgl qplsllstla astgpqlapp ignsi
//
LOCUS       XP_047277258             148 aa            linear   PRI 20-MAR-2023
DEFINITION  protein tyrosine phosphatase type IVA 3 isoform X3 [Homo sapiens].
ACCESSION   XP_047277258
VERSION     XP_047277258.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421302.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..148
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..148
                     /product="protein tyrosine phosphatase type IVA 3 isoform
                     X3"
                     /calculated_mol_wt=16645
     Region          5..133
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     CDS             1..148
                     /gene="PTP4A3"
                     /gene_synonym="PRL-3; PRL-R; PRL3"
                     /coded_by="XM_047421302.1:977..1423"
                     /db_xref="GeneID:11156"
                     /db_xref="HGNC:HGNC:9636"
                     /db_xref="MIM:606449"
ORIGIN      
        1 marmnrpapv evsykhmrfl ithnptnatl stfiedlkky gattvvrvce vtydktplek
       61 dgitvvdwpf ddgapppgkv vedwlslvka kfceapgscv avhcvaglgr krrgainskq
      121 ltylekyrpk qrlrfkdpht hktrccvm
//
LOCUS       XP_047278380            1025 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 31 isoform X2 [Homo sapiens].
ACCESSION   XP_047278380
VERSION     XP_047278380.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422424.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1025
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1025
                     /product="TBC1 domain family member 31 isoform X2"
                     /calculated_mol_wt=119174
     Region          29..324
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(29,49,53,59..60,91,95,101..102,114..115,132,137,
                     142..143,156,174,179,185..186,198..199,221,225,231..232,
                     246..247,270,275,281..282,294..295,313,317,323..324)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          36..71
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          76..113
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          120..154
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          161..197
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          205..243
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          251..281
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          299..325
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <452..595
                     /region_name="RabGAP-TBC"
                     /note="Rab-GTPase-TBC domain; cl02495"
                     /db_xref="CDD:445800"
     Region          <674..>1016
                     /region_name="DUF5401"
                     /note="Family of unknown function (DUF5401); pfam17380"
                     /db_xref="CDD:375164"
     CDS             1..1025
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /coded_by="XM_047422424.1:137..3214"
                     /db_xref="GeneID:93594"
                     /db_xref="HGNC:HGNC:30888"
ORIGIN      
        1 meqntlpvlw slhigviivn iihntsdyhp kvlrflnvaf dgtgdcliag dhqgniyvfd
       61 lhgnrfnlvq rtaqactala fnlrrksefl valadysikc fdtvtkelvs wmrghessvf
      121 sisvhasgky aittssdtaq lwdldtfqrk rklnirqsvg iqkvfflpls ntilscfkdn
      181 sifawecdtl fckyqlpapp esssilykvf avtrdgrila aggksnhlhl wclearqlfr
      241 iiqmptkvra irhleflpds fdagsnqvlg vlsqdgimrf inmqtckllf eigsldegis
      301 ssaisphgry iasimengsl niysvqaltq einkpppplv kviedlpknk lsssdlkmkv
      361 tsgrvqqpak sreskmqtri lkqdltgdfe skknelpdgl nkkrlqillk gygeyptkyr
      421 mfiwrsllql penhtafstl idkgthvafl nlqkkypiks rkllrvlqrt lsalahwsvi
      481 fsdtpylpll afpfvklfqn nqlicfevia tliinwcqhw feyfpnppin ilsmienvla
      541 fhdkellqhf idhditsqly awplletvfs evltreewlk lfdnifsnhp sfllmtvvay
      601 nicsrtplls cnlkddfeff fhhrnnldin vvirqvyhlm ettptdihpd smlnvfvalt
      661 kgqypvfnqy pkfivdyqtq ererirndel dylrerqtve dmqakvdqqr vedeawyqkq
      721 ellrkaeetr remllqeeek miqqrqrlaa vkrelkvkem hlqdaarrrf lklqqdqqem
      781 elrrlddeig rknltenqea lakemradad ayrrkvdlee hmfhklieag etqsqktqkv
      841 ikenlakaeq aclntdwqiq slhkqkcddl qrnkcyqeva kllrenrrke ieiinamvee
      901 eakkwkeaeg kefrlrsakk asalsdasrk wflkqeinaa vehaenpchk eeprfqneqd
      961 ssclprtsql ndssemdpst qislnrrave wdttgqnlik kvrnlrqrlt ararhrcqtp
     1021 hllaa
//
LOCUS       XP_047297835             212 aa            linear   PRI 20-MAR-2023
DEFINITION  PABIR family member 1 isoform X8 [Homo sapiens].
ACCESSION   XP_047297835
VERSION     XP_047297835.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441879.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..212
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..212
                     /product="PABIR family member 1 isoform X8"
                     /calculated_mol_wt=23503
     CDS             1..212
                     /gene="PABIR3"
                     /gene_synonym="FAM122C"
                     /coded_by="XM_047441879.1:186..824"
                     /db_xref="GeneID:159091"
                     /db_xref="HGNC:HGNC:25202"
ORIGIN      
        1 mayfpgtgrt dqetqldlsl cgrepeslen lfldpdmaqe kmklgfkslp ssttadgnil
       61 rrvnsaplin glgfnsqvlq admlrirtnr ttfrnrrsll lppppfhgsi srlhqikqee
      121 amdlinretm sewklqseiq ishsweeglk lndnglqkss slkcidltpv ssmassikkt
      181 gkqcfspslq tcvsctgsps spipspmqqy im
//
LOCUS       XP_047298548             869 aa            linear   PRI 20-MAR-2023
DEFINITION  centriole and centriolar satellite protein OFD1 isoform X11 [Homo
            sapiens].
ACCESSION   XP_047298548
VERSION     XP_047298548.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442592.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..869
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..869
                     /product="centriole and centriolar satellite protein OFD1
                     isoform X11"
                     /calculated_mol_wt=99290
     Region          75..101
                     /region_name="LisH_2"
                     /note="pfam16045"
                     /db_xref="CDD:435097"
     Region          270..>555
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     CDS             1..869
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /coded_by="XM_047442592.1:325..2934"
                     /db_xref="GeneID:8481"
                     /db_xref="HGNC:HGNC:2567"
                     /db_xref="MIM:300170"
ORIGIN      
        1 mmaqsnmftv advlsqdelr kklyqtfkdr gildtlktql rnqlihelmh pvlsgelqpr
       61 sisvegssll igasnslvad hlqrcgyeys lsvffpesgl akekvftmqd llqlikinpt
      121 sslykslvsg sdkenqkgfl mhflkelaey hqakescnme tqtsstfnrd slaeklqlid
      181 dqfadaypqr ikfesleikl neykreieeq lraemcqklk ffkdteiaki kmeakkkyek
      241 eltmfqndfe kacqakseal vlrekstler ihkhqeietk eiyaqrqlll kdmdllrgre
      301 aelkqrveaf elnqklqeek hksitealrr qeqniksfee tydrklknel lkyqlelkdd
      361 yiirtnrlie derknkekav hlqeeliain skkeelnqsv nrvkelelel esvkaqslai
      421 tkqnhmlnek vkemsdysll keeklellaq nkllkqqlee srnenlrlln rlaqpapela
      481 vfqkelrkae kaivveheef escrqalhkq lqdeiehsaq lkaqilgyka svkslttqva
      541 dlklqlkqtq talenevycn pkqsvidrsv nglingnvvp cngeisgdfl nnpfkqenvl
      601 armvasritn yptawvegss pdsdlefvan tkarvkelqq eaerlekafr syhrrvikns
      661 aksplaaksp pslhlleafk nitsssperh ifgedrvvse qpqvgtleer ndvvealtgs
      721 aasrlrggts srrlsstplp kakrslesem yleglgrshi aspspcpdrm plpsptesrh
      781 slsippvssp peqkvglyrr qtelqdksef sdvdklafkd neefessfes agnmprqlem
      841 gglspagdms hvdaaaaavp lsyqhpkdd
//
LOCUS       XP_054189541             754 aa            linear   PRI 20-MAR-2023
DEFINITION  CCR4-NOT transcription complex subunit 3 isoform X5 [Homo sapiens].
ACCESSION   XP_054189541
VERSION     XP_054189541.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333566.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571061.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..754
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..754
                     /product="CCR4-NOT transcription complex subunit 3 isoform
                     X5"
                     /calculated_mol_wt=81869
     CDS             1..754
                     /gene="CNOT3"
                     /gene_synonym="IDDSADF; LENG2; NOT3; NOT3H"
                     /coded_by="XM_054333566.1:1002..3266"
                     /db_xref="GeneID:4849"
                     /db_xref="HGNC:HGNC:7879"
                     /db_xref="MIM:604910"
ORIGIN      
        1 madkrklqge idrclkkvse gveqfediwq klhnaananq kekyeadlkk eikklqrlrd
       61 qiktwvasne ikdkrqlidn rklietqmer fkvveretkt kayskeglgl aqkvdpaqke
      121 keevgqwltn tidtlnmqvd qfesevesls vqtrkkkgdk dqkqdriegl krhiekhryh
      181 vrmletilrm ldndsilvda irkikddvey yvdssqdpdf eeneflyddl dledipqalv
      241 atsppshshm edeifnqsss tptsttsssp ippspanctt enseddkkrg rstdsevsqs
      301 pakngskpvh snqhpqspav pptypsgppp aasalsttpg nngvpapaap psalgpkasp
      361 apshnsgtpa pyaqavappa psgpsttqpr ppsvqpsggg gggsggggss sssnssaggg
      421 agkqngatsy ssvvadspae valsssggnn assqalgpps gphnpppsts kepsaaaptg
      481 aggvapgsgn nsggpsllvp lpvnppsspt psfsdakaag allngppqfs tapeikapep
      541 lsslksmaer aaissgiedp vptlhlterd iilsstsapp asaqpplqls evniplslgv
      601 cplgpvpltk eqlyqqamee aawhhmphps dserirqylp rnpcptppyh hqmppphsdt
      661 vefyqrlste tlffifyyle gtkaqylaak alkkqswrfh tkymmwfqrh eepktitdef
      721 eqgtyiyfdy ekwgqrkkeg ftfeyryled rdlq
//
LOCUS       XP_054189658             185 aa            linear   PRI 20-MAR-2023
DEFINITION  natural cytotoxicity triggering receptor 1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054189658
VERSION     XP_054189658.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333683.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187693.1) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..185
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..185
                     /product="natural cytotoxicity triggering receptor 1
                     isoform X3"
                     /calculated_mol_wt=20844
     CDS             1..185
                     /gene="NCR1"
                     /gene_synonym="CD335; LY94; NK-p46; NKP46"
                     /coded_by="XM_054333683.1:36..593"
                     /db_xref="GeneID:9437"
                     /db_xref="HGNC:HGNC:6731"
                     /db_xref="MIM:604530"
ORIGIN      
        1 mydtptlsvh pgpevisgek vtfycrldta tsmflllkeg rsshvqrgyg kvqaefplgp
       61 vttahrgtyr cfgsynnhaw sfpsepvkll vtgdientsl apedptfpad twgtylltte
      121 tglqkdhalw dhtaqnllrm glaflvlval vwflvedwls rkrtrerasr astwegrrrl
      181 ntqtl
//
LOCUS       XP_054190135             734 aa            linear   PRI 20-MAR-2023
DEFINITION  Fc receptor-like protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054190135
VERSION     XP_054190135.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334160.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..734
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..734
                     /product="Fc receptor-like protein 3 isoform X1"
                     /calculated_mol_wt=80726
     CDS             1..734
                     /gene="FCRL3"
                     /gene_synonym="CD307c; FCRH3; IFGP3; IRTA3; MAIA; SPAP2"
                     /coded_by="XM_054334160.1:224..2428"
                     /db_xref="GeneID:115352"
                     /db_xref="HGNC:HGNC:18506"
                     /db_xref="MIM:606510"
ORIGIN      
        1 mllwllllil tpgreqsgva pkavllldpp wstafkgekv alicssishs laqgdtywyh
       61 dekllkikhd kiqitepgny qcktrgssls davhvefspd wlilqalhpv fegdnvilrc
      121 qgkdnknthq kvyykdgkql pnsynlekit vnsvsrdnsk yhctayrkfy ildievtskp
      181 lniqvqelfl hpvlrassst piegspmtlt cetqlspqrp dvqlqfslfr dsqtlglgws
      241 rsprlqipam wtedsgsywc evetvthsik krslrsqirv qrvpvsnvnl eirptggqli
      301 egenmvlics vaqgsgtvtf swhkegrvrs lgrktqrsll aelhvltvke sdagryycaa
      361 dnvhspilst wirvtvripv shpvltfrap rahtvvgdll elhceslrgs ppilyrfyhe
      421 dvtlgnssap sgggasfnls ltaehsgnys cdadnglgaq hshgvslrvt vpvsrpvltl
      481 rapgaqavvg dllelhcesl rgsfpilywf yheddtlgni sahsgggasf nlslttehsg
      541 nysceadngl gaqhskvvtl nvtgtsrnrt gltaagitgl vlsilvlaaa aallhyarar
      601 rkpgglsatg tsshspsecq epsssrpsri dpqepthskp lapmelepmy snvnpgdsnp
      661 iysqiwsiqh tkensancpm mhqeheeltv lyselkkthp ddsageassr graheeddee
      721 nyenvprvll asdh
//
LOCUS       XP_054194833             546 aa            linear   PRI 20-MAR-2023
DEFINITION  maestro heat-like repeat-containing protein family member 9 isoform
            X3 [Homo sapiens].
ACCESSION   XP_054194833
VERSION     XP_054194833.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338858.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..546
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..546
                     /product="maestro heat-like repeat-containing protein
                     family member 9 isoform X3"
                     /calculated_mol_wt=62886
     CDS             1..546
                     /gene="MROH9"
                     /gene_synonym="ARMC11; C1orf129"
                     /coded_by="XM_054338858.1:52..1692"
                     /db_xref="GeneID:80133"
                     /db_xref="HGNC:HGNC:26287"
ORIGIN      
        1 mnltgtleel rkitplhfyn whkhwksstl iqmwkaacsq asvaphvlkt illilkgkpg
       61 emedtvtegk rfslditnlm plaacqalct flplgsyrka vaqyfpqllt tlmfqvfyns
      121 elkpilkdra lyaqdalrvl lncsglqqvd itlmkenfwd qlsedlcyyh gvcfiaktls
      181 eynfpqfpet lsylyklsve gprrsedtvi vlifltelln nffkdplpee flvlfinwin
      241 dsnpvvsrli lhrivhmspi inktenvssi liaildafls kddnvvlqal ltlrrllnel
      301 dkvtyslgtr igssyctlmd hinggirsma irhfgqlvrd mrqytwmvnd vvleglvpli
      361 lfledddkrv aeackytlki ctsqlkwsts rllkdenysf emvvlnicnn liishrnyit
      421 dltsdtlrfl wsprtylkra sviligylak sgghlllrde ievmldvier llrdedpmik
      481 qlaeitydif kkkahkltsa plkqnfqkll klfyikklkp lynynspngq idsptdskdv
      541 kndkal
//
LOCUS       XP_054220573             490 aa            linear   PRI 20-MAR-2023
DEFINITION  CUGBP Elav-like family member 2 isoform X9 [Homo sapiens].
ACCESSION   XP_054220573
VERSION     XP_054220573.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364598.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..490
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..490
                     /product="CUGBP Elav-like family member 2 isoform X9"
                     /calculated_mol_wt=52138
     CDS             1..490
                     /gene="CELF2"
                     /gene_synonym="BRUNOL3; CELF-2; CUG-BP2; CUGBP2; DEE97;
                     ETR-3; ETR3; NAPOR"
                     /coded_by="XM_054364598.1:224..1696"
                     /db_xref="GeneID:10659"
                     /db_xref="HGNC:HGNC:2550"
                     /db_xref="MIM:602538"
ORIGIN      
        1 mngaldhsdq pdpdaikmfv gqiprswsek elkelfepyg avyqinvlrd rsqnppqskg
       61 ccfvtfytrk aaleaqnalh niktlpgmhh piqmkpadse ksnavedrkl figmvskkcn
      121 endirvmfsp fgqieecril rgpdglsrgc afvtfstram aqnaikamhq sqtmegcssp
      181 ivvkfadtqk dkeqrrlqqq laqqmqqlnt atwgnltglg gltpqylall qqatsssnlg
      241 afsgiqqmag mnalqlqnla tlaaaaaaaq tsatstnanp lsttssalga ltspvaastp
      301 nstagaamns ltslgtlqgl agatvglnni nalavaqmls gmaalngglg atgltngtag
      361 tmdaltqays giqqyaaaal ptlysqsllq qqsaagsqke gpeganlfiy hlpqefgdqd
      421 ilqmfmpfgn visakvfidk qtnlskcfgf vsydnpvsaq aaiqamngfq igmkrlkvql
      481 krskndskpy
//
LOCUS       XP_054223580             543 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 22 member 12 isoform X2 [Homo sapiens].
ACCESSION   XP_054223580
VERSION     XP_054223580.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367605.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..543
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..543
                     /product="solute carrier family 22 member 12 isoform X2"
                     /calculated_mol_wt=58278
     CDS             1..543
                     /gene="SLC22A12"
                     /gene_synonym="hURAT1; OAT4L; RST; UAT; URAT1"
                     /coded_by="XM_054367605.1:349..1980"
                     /db_xref="GeneID:116085"
                     /db_xref="HGNC:HGNC:17989"
                     /db_xref="MIM:607096"
ORIGIN      
        1 mlenfsaavp shrcwaplld nstaqasilg slspeallai sippgpnqrp hqcrrfrqpq
       61 wqlldpnata tswseadtep cvdgwvydrs iftstivakw nlvcdshalk pmaqsiylag
      121 ilvgaaacgp asdrfgrrlv ltwsylqmav mgtaaafapa fpvyclfrfl lafavagvmm
      181 ntgtlrrslt wrhagglhag sraeplglla vmewtaarar plvmtlnslg fsfghgltaa
      241 vaygvrdwtl lqlvvsvpff lcflyswwla esarwllttg rldwglqelw rvaaingkga
      301 vqdtltpevl lsamreelsm gqppaslgtl lrmpglrfrt cistlcwfaf gftffglald
      361 lqalgsnifl lqmfigvvdi pakmgallll shlgrrptla aslllaglci lantlvphem
      421 galrsalavl glggvgaaft citiysself ptvlrmtavg lgqmaargga ilgplvrllg
      481 vhgpwlpllv ygtvpvlsgl aalllpetqs lplpdtiqdv qnqavkkath gtlgnsvlks
      541 tqf
//
LOCUS       XP_054225953             537 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 82 isoform X2 [Homo sapiens].
ACCESSION   XP_054225953
VERSION     XP_054225953.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369978.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..537
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..537
                     /product="coiled-coil domain-containing protein 82 isoform
                     X2"
                     /calculated_mol_wt=62762
     CDS             1..537
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /coded_by="XM_054369978.1:628..2241"
                     /db_xref="GeneID:79780"
                     /db_xref="HGNC:HGNC:26282"
                     /db_xref="MIM:619870"
ORIGIN      
        1 mihvrrhetr rnskshvpeq ksrvdwrrtk rssisqllds deeldseefd sdeeldsdes
       61 fendeeldsn kgpdcnktpg serelnlski qsegndskcl insgngstye eetnkikhrn
      121 idlqdqekhl sqedndlnkq tgqiieddqe khlsqedndl nkqtgqiied dleeedikrg
      181 krkrlssvmc dsdesddsdi lvrkvgvkrp rrvvedegss vemeqktpek tlaaqkrekl
      241 qklkelskqr srqrrssgrd fedsekescp ssdevdeeee ednyesdedg ddyiiddfvv
      301 qdeegdeenk nqqgekltts qlklvkqnsl ysfsdhythf ervvkallin aldesflgtl
      361 ydgtrqksya kdmltslhyl dnrfvqprle slvsrsrwke qykervenys nvsihlknpe
      421 ncscqacglh ryckysvhls gelyntrtmq idnfmshdkq vftvgricas rtriyhklkh
      481 fkfklyqecc tiamteeved eqvketveri frrskengwi kensscdlrv kkhlvpv
//
LOCUS       XP_054228393             553 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein axonemal intermediate chain 7 isoform X7 [Homo sapiens].
ACCESSION   XP_054228393
VERSION     XP_054228393.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372418.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..553
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..553
                     /product="dynein axonemal intermediate chain 7 isoform X7"
                     /calculated_mol_wt=63230
     CDS             1..553
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /coded_by="XM_054372418.1:99..1760"
                     /db_xref="GeneID:55259"
                     /db_xref="HGNC:HGNC:29599"
                     /db_xref="MIM:616906"
ORIGIN      
        1 mrqtgggatt dsaspvlnnv iksqsyftak rvglgnnsyl gvgrpssqqw lslpgpggqg
       61 pkakksgskk kkvtkaerlk llqeeeerrl keeeearlky ekeemerlei qriekekwhr
      121 leakdlerrn eeleelylle rcfpeaeklk qetkllsqwk hyiqcdgspd psvaqemntf
      181 islwkektne tfeevieksk vvlnlieklk filletppcd lqdkniiqyq esilqlqell
      241 hlkfgvatei llkqastlad ldsgnmekvi kdenvtlyvw anlkknprhr svrfsetqig
      301 feiprilats diavrllhth ydhvsalhpv stpskeytsa vtelvkddvk nvekaiskev
      361 eeeskqqerg shliqeeeik veeeqgdiev kmssaeeese aikceremkv lsetvsaaql
      421 llvenssekp dffednvvdl cqfttlggvy hldilelppq ckpvkgwmiv eilkeglqky
      481 typpetteef etenafppie vtlevhenvi ffedpvvvre kmklvslsss iikvnigelm
      541 asamyptnqk kdl
//
LOCUS       XP_054228656            1081 aa            linear   PRI 20-MAR-2023
DEFINITION  fibrosin-1-like protein isoform X6 [Homo sapiens].
ACCESSION   XP_054228656
VERSION     XP_054228656.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372681.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1081
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1081
                     /product="fibrosin-1-like protein isoform X6"
                     /calculated_mol_wt=114823
     CDS             1..1081
                     /gene="FBRSL1"
                     /coded_by="XM_054372681.1:422..3667"
                     /db_xref="GeneID:57666"
                     /db_xref="HGNC:HGNC:29308"
                     /db_xref="MIM:620123"
ORIGIN      
        1 meakvrpsrr sraqrdrgrr reaardaraq spssgdepep spgkenaglr gapprgaapa
       61 praarpprrr rresssqeee vidgfaiasf stlealekdm alkpherkek werrlikkpr
      121 esetcppaep senrrpleag spgqdlepac dgarkvplqp skqmkvtvsk ggdrdsddds
      181 vleatssrdp lsdssahavs grgyscdses gpddkasvgs eklfapgtdk gpalekseak
      241 agpvpkvsgl ersrelsaes flptaspaph aapcpgpppg sranplvkke ppaphrhtpq
      301 ppppqprgll pthvpaslga faghsqaaan glhglsrsss aplglgkhvs lsphgpgphl
      361 stshlalrsq aqhqlhaamf aapptlpppp alpasslvlp ghpadaslav sfsqpimycq
      421 phsgilidhe llrqelntrf lvqsaerpga slgpgallra efhqhqhthq hthqhthqhq
      481 htfapfpagl pptppaappp fdkyapklds pyfrhssvsa eggvrtwapp psallllqff
      541 psfppaipgl ptllphpgpf gslqgafqpk vsdpyravvk kpgrwcavhv qiawqiyrhq
      601 qkikemqldp hklevgakld lfgrppapgv fagfhypqdl arplfpstgh arewevkvhr
      661 gnwgapceqs crwealvlsp gfcqtwlppp gaahpasnpf gpsahpgsfl ptgpltdpfs
      721 rpstfgglgs lsshafgglg shalapggsi fapkegssvh glpspheawn rlhrappsfp
      781 apppwpksvd aervsaltnh drepdngkee qerdllektr llsraspatp aghpvsglll
      841 raqselgrsg apaereaepr vkesrspake eaakmparas pphskaapgd vkvkeerged
      901 easeppaggl hpaplqlglg rerlgapgfa wepfrglelp rrafpaaapa pgsaallepp
      961 erpyrdreph gysperlrge leraraphlp paapaldgal lpslgalhfp rlspaalhng
     1021 llartppaaa algappplvt aagpptppgp prsrttplgg lgpgeardys psrnppevea
     1081 r
//
LOCUS       XP_054232989             214 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 20 isoform X19 [Homo sapiens].
ACCESSION   XP_054232989
VERSION     XP_054232989.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377014.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..214
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..214
                     /product="WD repeat-containing protein 20 isoform X19"
                     /calculated_mol_wt=23781
     CDS             1..214
                     /gene="WDR20"
                     /gene_synonym="Bun107; DMR"
                     /coded_by="XM_054377014.1:28..672"
                     /db_xref="GeneID:91833"
                     /db_xref="HGNC:HGNC:19667"
                     /db_xref="MIM:617741"
ORIGIN      
        1 mategggkem neiktqfttr eglykllphs eysrpnrvpf nsqgsnpvrv sfvnlndqsg
       61 ngdrlcfnvg relyfyiykg vrkvptrasp epasgaadls kpidkriykg tqptchdfnh
      121 ltataesvsl lvgfsagqvq lidpikkets klfneenscq hlwkvdwnee rqnegsktse
      181 ealvtvqgsq rkstpidseq gqlphsvcfl slsr
//
LOCUS       XP_054234774             973 aa            linear   PRI 20-MAR-2023
DEFINITION  SAFB-like transcription modulator isoform X5 [Homo sapiens].
ACCESSION   XP_054234774
VERSION     XP_054234774.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378799.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..973
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..973
                     /product="SAFB-like transcription modulator isoform X5"
                     /calculated_mol_wt=110687
     CDS             1..973
                     /gene="SLTM"
                     /gene_synonym="Met"
                     /coded_by="XM_054378799.1:115..3036"
                     /db_xref="GeneID:79811"
                     /db_xref="HGNC:HGNC:20709"
ORIGIN      
        1 maaatgavaa saasgqaegk kitdlrvidl kselkrrnld itgvktvlis rlkqaieeeg
       61 gdpdnieltv stdtpnkkpt kgkahfpsfa gkkheadels gdasveddaf ikdcelenqe
      121 aheqdgndel kdseefgene eenvhskell saeenkrahe lieaegiedi ekediesqei
      181 eaqegeddtf ltaqdgeeee nekegslaea dhtaheemea httvkeaedd nisvtiqaed
      241 aitldfdgdd lletgknvki tdseaskpkd gqdaiaqspe keskdyemna nhkdgkkedc
      301 vkgdpvekea resskkaesg dkekdtlkkg psstgasgqa kssskeskds ktsskddkgs
      361 tsstsgssgs stkniwvsgl ssntkaadlk nlfgkygkvk gdpskkemkk endeksssrs
      421 sgdkkntsdr ssktqasvkk eekrssekse kkeskdtkki egkdekndng asgqtsesik
      481 kseekkriss kspghmvild qtkgdhcrps rrgryekihg rskekerasl dkkrdkdyrr
      541 keilpfekmk eqrlrehlvr ferlrramel rrrreiaere rrereririi rereererlq
      601 rererleier qklerermer erlereriri eqerrkeaer iarereelrr qqqqlryeqe
      661 krnslkrprd vdhrrddpyw senkklsldt darfghgsdy srqqnrfndf dhrergrfpe
      721 ssavqsssfe rrdrfvgqse gkkarptarr edpsferypk nfsdsrrnep ppprnelres
      781 drrevrgerd errtviihdr pdithprhpr eagpnpsrpt swksegsmst dkretrverp
      841 ersgrevsgh svrgappgnr ssasgygsre gdrgvitdrg ggsqhypeer hvverhgrdt
      901 sgprkewhgp psqgpsyhdt rrmgdgraga gmitqhssna spinrivqis gnsmprgsgs
      961 gfkpfkggpp rrf
//
LOCUS       XP_054235123             566 aa            linear   PRI 20-MAR-2023
DEFINITION  protein regulator of cytokinesis 1 isoform X8 [Homo sapiens].
ACCESSION   XP_054235123
VERSION     XP_054235123.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379148.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..566
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..566
                     /product="protein regulator of cytokinesis 1 isoform X8"
                     /calculated_mol_wt=66075
     CDS             1..566
                     /gene="PRC1"
                     /gene_synonym="ASE1"
                     /coded_by="XM_054379148.1:119..1819"
                     /db_xref="GeneID:9055"
                     /db_xref="HGNC:HGNC:9341"
                     /db_xref="MIM:603484"
ORIGIN      
        1 mrrsevlaee sivclqkaln hlreiwelig ipedqrlqrt evvkkhikel ldmmiaeees
       61 lkerliksis vcqkelntlc selhvepfqe egettilqle kdlrtqvelm rkqkkerkqe
      121 lkllqeqdqe lceilcmphy didsasvpsl eelnqfrqhv ttlretkasr reefvsikrq
      181 iilcmeeldh tpdtsferdv vcededafcl sleniatlqk llrqlemqks qneavceglr
      241 tqirelwdrl qipeeereav atimsgskak vrkalqlevd rleelkmqnm kkvieairve
      301 lvqywdqcfy sqeqrqafap fcaedytesl lqlhdaeivr lknyyevhke lfegvqkwee
      361 twrlflefer kasdpnrftn rggnllkeek qraklqkmlp kleeelkari elweqehska
      421 fmvngqkfme yvaeqwemhr lekerakqer qlknkkqtet emlygsaprt pskrrglapn
      481 tpgkarklnt ttmsnatans sirpifggtv yhspvsrlpp sgskpvaast csgkktprtg
      541 rhgankenle lngsilsart fkgfqi
//
LOCUS       XP_054235761            1741 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 90 isoform X34 [Homo sapiens].
ACCESSION   XP_054235761
VERSION     XP_054235761.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379786.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1741
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1741
                     /product="WD repeat-containing protein 90 isoform X34"
                     /calculated_mol_wt=186942
     CDS             1..1741
                     /gene="WDR90"
                     /gene_synonym="C16orf15; C16orf16; C16orf17; C16orf18;
                     C16orf19; POC16"
                     /coded_by="XM_054379786.1:53..5278"
                     /db_xref="GeneID:197335"
                     /db_xref="HGNC:HGNC:26960"
                     /db_xref="MIM:618290"
ORIGIN      
        1 marawqhpfl nvfrhfrvde wkrsakqgdv avvtdktlkg avyrirgsvs aanyiqlpks
       61 stqslgltgr ylyvlfrplp skhfvihldv sskdnqvirv sfsnlfkefk statwlqfpl
      121 vleartpqrd lvglapsgar wtclqldlqd vllvylnrcy ghlksirlca sllvrnlyts
      181 dlcfepaisg aqwaklpvtp mpremafpvp kgeswhdryi hvrfpseslk vpskpieksc
      241 sppeavllgp gpqplpcpva sskpvrfsvs pvvqtpspta qsgraalapr pfpevslsqe
      301 rsdasnadgp gfhslepwaq leasdihtaa agthvlthes aevpvartgs cegflpdpvl
      361 rlkgvigfgg hgtrqalwtp dgaavvypch avivvllvdt geqrfflght dkvsalaldg
      421 sssllasaqa rapsvmrlwd fqtgrclclf rspmhvvcsl sfsdsgallc gvgkdhhgrt
      481 mvvawgtgqv glggevvvla kahtdfdvqa frvtffdetr mascgqgsvr lwrlrggvlr
      541 scpvdlgehh alqftdlafk qardgcpeps aamlfvcsrs ghileidcqr mvvrharrll
      601 ptrtpggphp qkqtfssgpg iaisslsvsp amcavgsedg flrlwpldfs svlleaeheg
      661 pvssvcvspd glrvlsatss ghlgfldtls rvyhmlarsh tapvlalame qrrgqlatvs
      721 qdrtvriwdl atlqqlydft ssedapcavt fhptrptffc gfssgavrsf sleaaevlve
      781 htchrgavtg ltatpdgrll fsscsqgsla qyscadpqwh vlrvaadmvc pdapaspsal
      841 avsrdgrlla fvgpsrctvt vmgsasldel lrvdigtldl assrldsama vcfgpaalgh
      901 llvstssnrv vvldavsgri irelpgvhpe pcpsltlsed arflliaagr tikvwdyatq
      961 aspgpqvyig hsepvqavaf spdqqqvlsa gdavflwdvl apterqvptl scvclgppgp
     1021 petlsppspa tkaspgppqp arqaraqdrw rtqrpgpass pgsrspshvr hlhhgwasvp
     1081 glpkvamgtc pppasggwlr lkavvgysgn granmvwrpd tgffaytcgr lvvvedlhsg
     1141 aqqhwsghsa eistlalshs aqvlasasgr ssttahcqir vwdvsgglcq hlifphsttv
     1201 lalafspddr llvtlgdhdg rtlalwgtat ydlvsstrlp epvhgvafnp wdageltcvg
     1261 qgtvtfwllq qrgadislqv rrepvpeavg ageltslcyg appllycgts sgqvcvwdtr
     1321 agrcflswea ddggiglllf sgsrlvsgss tgrlrlwavg avselrckgs garsssvfme
     1381 helvldgavv sasfddsvdm gvvgttagtl wfvswaegts trlisghrsk vnevvfspge
     1441 shcatcsedg svrvwalasm elviqfqvln qsclclawsp pccgrpeqqr laagygdgsl
     1501 rifsvsrtam elkmhphpva lttvafstdg qtvlsgdkdg lvavshpctg ttfrvlsdhq
     1561 gapisticvt ckecedlgve gtdlwlaasg dqrvsvwasd wlrnhcelvd wlsfpmpatt
     1621 etqghlppsl aafcpwdgal lmyvgpgvyk eviiynlcqk qvvekiplpf famslslspg
     1681 thllavgfae cmlrlvdcam gtaqdfaghd navhlcrftp sarllftaar neilvwevpg
     1741 l
//
LOCUS       XP_054170986             269 aa            linear   PRI 20-MAR-2023
DEFINITION  CHD1 helical C-terminal domain containing protein 1 isoform X2
            [Homo sapiens].
ACCESSION   XP_054170986
VERSION     XP_054170986.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315011.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..269
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..269
                     /product="CHD1 helical C-terminal domain containing
                     protein 1 isoform X2"
                     /calculated_mol_wt=30770
     CDS             1..269
                     /gene="CHCT1"
                     /gene_synonym="C17orf64"
                     /coded_by="XM_054315011.1:171..980"
                     /db_xref="GeneID:124773"
                     /db_xref="HGNC:HGNC:26990"
ORIGIN      
        1 mplscarggr wvagearadg gptalsrrqa knratlsgdn waraqrtrrk vtnvsclets
       61 ssaspardsl mrhakgldqd tfktckeylr plkkflrklh lprdlpqkkk lkymkqslvv
      121 lgdhintflq hycqaweikh wrkmlwrfis lfseleakql rrlykytkss qpakflvtfc
      181 asdapersll adredslpkl chawglhsni sgmkerlsnm qtpgqgsplp gqprsqdhvk
      241 kdslrelsqk pklkrkrike apetpetep
//
LOCUS       XP_054171006             741 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 13B isoform X4 [Homo
            sapiens].
ACCESSION   XP_054171006
VERSION     XP_054171006.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315031.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 17% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..741
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..741
                     /product="ankyrin repeat domain-containing protein 13B
                     isoform X4"
                     /calculated_mol_wt=81641
     CDS             1..741
                     /gene="ANKRD13B"
                     /coded_by="XM_054315031.1:65..2290"
                     /db_xref="GeneID:124930"
                     /db_xref="HGNC:HGNC:26363"
                     /db_xref="MIM:615124"
ORIGIN      
        1 mqlwgpggcg raslrrrprg prpvrprarc grllpppsgv fvcggvgger esaqrrrvpa
       61 psqggwgplr aarrrrlart pvaraartap gappppaaar tcpsrspasr qrrppaprpr
      121 apapapsllp graprprhee ramipanasa rkgpegkypl hylvwhnrhr elekevragq
      181 vdieqldprg rtplhlattl ghlecarvll ahgadvgren rsgwtvlqea vstrdlelvq
      241 lvlryrdyqr vvkrlagipv lleklrkaqd fyvemkweft swvplvskic psdtykvwks
      301 gqnlrvdttl lgfdhmtwqr gnrsfvfrgq dtsavvmeid hdrrvvytet lalagqdrel
      361 llaaaqptee qvlsrltapv vttqldtkni sfernktgil gwrsektemv ngyeakvrlq
      421 lpaaspaall ptasctgdsd lpspalevyg asnvelitrt rtehlseqhk gkvkgcktpl
      481 qsflgiaeqh ggpqngtlit qtlsqanpta itaeeyfnpn felgnrdmgr pmelttktqk
      541 fkaklwlcee hplslceqva piidlmavsn alfaklrdfi tlrlppgfpv kieipifhil
      601 naritfgnln gcdepvpsvr gspssetpsp gsdsssvsss ssttscrgce ispalfeapr
      661 gysmmggqre aatrdddddl lqfaiqqsll eagseydqvt iwealtnskp gthpmsyegr
      721 rqdrsvpagp erilrrgscl p
//
LOCUS       XP_054174943             390 aa            linear   PRI 20-MAR-2023
DEFINITION  serpin B4 isoform X1 [Homo sapiens].
ACCESSION   XP_054174943
VERSION     XP_054174943.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318968.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..390
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..390
                     /product="serpin B4 isoform X1"
                     /calculated_mol_wt=44723
     CDS             1..390
                     /gene="SERPINB4"
                     /gene_synonym="LEUPIN; PI11; SCCA-2; SCCA1; SCCA2"
                     /coded_by="XM_054318968.1:94..1266"
                     /db_xref="GeneID:6318"
                     /db_xref="HGNC:HGNC:10570"
                     /db_xref="MIM:600518"
ORIGIN      
        1 mnslseantk fmfdlfqqfr kskennifys pisitsalgm vllgakdnta qqiskvlhfd
       61 qvtentteka atyhvdrsgn vhhqfqkllt efnkstdaye lkianklfge ktyqflqeyl
      121 daikkfyqts vestdfanap eesrkkinsw vesqtnekik nlfpdgtign dttlvlvnai
      181 yfkgqwenkf kkentkeekf wpnkntyksv qmmrqynsfn falledvqak vleipykgkd
      241 lsmivllpne idglqkleek ltaeklmewt slqnmretcv dlhlprfkme esydlkdtlr
      301 tmgmvnifng dadlsgmtws hglsvskvlh kafvevteeg veaaaatavv vvelsspstn
      361 eefccnhpfl ffirqnktns ilfygrfssp
//
LOCUS       XP_054176788             597 aa            linear   PRI 20-MAR-2023
DEFINITION  amyloid beta precursor like protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054176788
VERSION     XP_054176788.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320813.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..597
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..597
                     /product="amyloid beta precursor like protein 1 isoform
                     X2"
                     /calculated_mol_wt=66097
     CDS             1..597
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /coded_by="XM_054320813.1:64..1857"
                     /db_xref="GeneID:333"
                     /db_xref="HGNC:HGNC:597"
                     /db_xref="MIM:104775"
ORIGIN      
        1 mgpaspaarg lsrrpgqppl plllplllll lraqpaigsl aggspgaaea pgsaqvaglc
       61 grltlhrdlr tgrwepdpqr srrclrdpqr vleycrqmyp elqiarveqa tqaipmerwc
      121 ggsrsgscah phhqvvpfrc lpgefvseal lvpegcrflh qermdqcess trrhqeaqea
      181 cssqglilhg sgmllpcgsd rfrgveyvcc pppgtpdpsg tavgdpstrs wppgsrvega
      241 edeeeeesfp qpvddyfvep pqaeeeeetv pppsshtlav vgkvtptprp tdgvdiyfgm
      301 pgeisehegf lrakmdleer rmrqinevmr ewamadnqsk nlpkadrqal neaervllal
      361 rrylraeqke qrhtlrhyqh vaavdpekaq qmrfqvhthl qvieervnqs lglldqnphl
      421 aqelrpqiqe llhsehlgps eleapapggs sedkgglqpp dskddtpmtl pkgsteqdaa
      481 spekekmnpl eqyerkvnas vprgfpfhss eiqrdelapa gtgvsreavs gllimgaggg
      541 slivlsmlll rrkkpygais hgvvevdpml tleeqqlrel qrhgyenpty rfleerp
//
LOCUS       XP_054178011             799 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 227 isoform X1 [Homo sapiens].
ACCESSION   XP_054178011
VERSION     XP_054178011.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322036.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..799
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..799
                     /product="zinc finger protein 227 isoform X1"
                     /calculated_mol_wt=91902
     CDS             1..799
                     /gene="ZNF227"
                     /coded_by="XM_054322036.1:357..2756"
                     /db_xref="GeneID:7770"
                     /db_xref="HGNC:HGNC:13020"
ORIGIN      
        1 mpsqnydlpq kkqekmtkfq eavtfkdvav vfsreelrll dltqrklyrd vmvenfknlv
       61 avghlpfqpd mvsqleaeek lwmmetetqr sskhqnkmet lqkfalkyls nqelscwqiw
      121 kqvaseltrc lqgkssqllq gdsiqvsene nnimnpkgds siyienqefp fwrtqhscgn
      181 tylsesqiqs rgkqidvknn lqihedfmkk spfhehiktd tepkpckgne ygkiisdgsn
      241 qklplgekph pcgecgrgfs ysprlplhpn vhtgekcfsq sshlrthqri hpgeklnrch
      301 esgdcfnkss fhsyqsnhtg eksyrcdscg kgfssstgli ihyrthtgek pykceecgkc
      361 fsqssnfqch qrvhteekpy kceecgkgfg wsvnlrvhqr vhrgekpykc eecgkgftqa
      421 ahfhihqrvh tgekpykcdv cgkgfshnsp lichrrvhtg ekpykceacg kgftrntdlh
      481 ihfrvhtgek pykckecgkg fsqasnlqvh qnvhtgekrf kcetcgkgfs qssklqthqr
      541 vhtgekpyrc dvcgkdfsys snlklhqvih tgekpykcee cgkgfswrsn lhahqrvhsg
      601 ekpykceqcd ksfsqaidfr vhqrvhtgek pykcgvcgkg fsqssglqsh qrvhtgekpy
      661 kcdvcgkgfr yssqfiyhqr ghtgekpykc eecgkgfgrs lnlrhhqrvh tgekphicee
      721 cgkafslpsn lrvhlgvhtr eklfkceecg kgfsqsarle ahqrvhtgek pykcdicdkd
      781 frhrsrltyh qkvhtgkkl
//
LOCUS       XP_054197503             905 aa            linear   PRI 20-MAR-2023
DEFINITION  ranBP2-like and GRIP domain-containing protein 4 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054197503
VERSION     XP_054197503.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341528.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..905
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..905
                     /product="ranBP2-like and GRIP domain-containing protein 4
                     isoform X5"
                     /calculated_mol_wt=102972
     CDS             1..905
                     /gene="RGPD4"
                     /gene_synonym="RGP4"
                     /coded_by="XM_054341528.1:123..2840"
                     /db_xref="GeneID:285190"
                     /db_xref="HGNC:HGNC:32417"
                     /db_xref="MIM:612707"
ORIGIN      
        1 mscskayger yvasvqgsap sprkkstrgf yfaklyyeak eydlakkyic tyinvremdp
       61 rahrflglly eleentekav ecyrrsveln ptqkdlvlki aellckndvt dgrakywver
      121 aaklfpgspa iyklkeqlld cegedgwnkl fdliqselyv rpddvhvnir lvelyrstkr
      181 lkdavarche aernialrss lewnscvvqt lkeyleslqc lesdksdwra tntdlllaya
      241 nlmlltlstr dvqesrelle sfdsalqsak sslggndels atflemkghf ymhagslllk
      301 mgqhgnnvqw ralselaalc yliafqvprp kiklikgeag qnllemmacd rlsqsghmll
      361 nlsrgkqdfl kvvvetfank sgqsalydal fssqspkdts flgsddigni dvqepeledl
      421 arydvgaira hngslqhltw lglqwnslpa lpgirkwlkq lfhhlpqets rletnapesi
      481 cildlevfll gvvytshlql kekcnshhss yqplclplpv ckqlctegqk swwdavctli
      541 hrkavpgnsa klrllvqhei ntlraqekhg lqpallvhwa kclqkmgsgl nsfydqreyi
      601 grsvhywkkv lpllkiikkk nsipepidpl fkhfhsvdiq aseiveyeed ahvtfailda
      661 vngniedamt afesiksvvs ywnlalifhr kaediandal speeqeeckn ylrktrgyli
      721 kilddsdsnl svvkklpvpl esvkqmlksv mqelenyseg gplykngslr nadseikhst
      781 psptkyslsp sksykyspkt pprwtedqns llkmirqevk aimeemqelk lnssksashh
      841 rwptenygpd svpdgyqgsq tfhgapltea ahrhftiekh gdskwiiyrf tkqlcgtera
      901 rakis
//
LOCUS       XP_054180399             289 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-secretase 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054180399
VERSION     XP_054180399.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324424.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..289
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..289
                     /product="beta-secretase 2 isoform X2"
                     /calculated_mol_wt=31698
     CDS             1..289
                     /gene="BACE2"
                     /gene_synonym="AEPLC; ALP56; ASP1; ASP21; BAE2; CDA13;
                     CEAP1; DRAP"
                     /coded_by="XM_054324424.1:2677..3546"
                     /db_xref="GeneID:25825"
                     /db_xref="HGNC:HGNC:934"
                     /db_xref="MIM:605668"
ORIGIN      
        1 mqmcgaglpv agsgtnggsl vlggiepsly kgdiwytpik eewyyqieil kleiggqsln
       61 ldcreynadk aivdsgttll rlpqkvfdav veavarasli pefsdgfwtg sqlacwtnse
      121 tpwsyfpkis iylrdenssr sfritilpql yiqpmmgagl nyecyrfgis pstnalviga
      181 tvmegfyvif draqkrvgfa aspcaeiaga avseisgpfs tedvasncvp aqslsepilw
      241 ivsyalmsvc gaillvlivl lllpfrcqrr prdpevvnde sslvrhrwk
//
LOCUS       XP_054204029             465 aa            linear   PRI 20-MAR-2023
DEFINITION  peroxisomal acyl-coenzyme A oxidase 2 isoform X5 [Homo sapiens].
ACCESSION   XP_054204029
VERSION     XP_054204029.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348054.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..465
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..465
                     /product="peroxisomal acyl-coenzyme A oxidase 2 isoform
                     X5"
                     /calculated_mol_wt=52156
     CDS             1..465
                     /gene="ACOX2"
                     /gene_synonym="BCOX; BRCACOX; BRCOX; CBAS6; THCCox"
                     /coded_by="XM_054348054.1:440..1837"
                     /db_xref="GeneID:8309"
                     /db_xref="HGNC:HGNC:120"
                     /db_xref="MIM:601641"
ORIGIN      
        1 mhafivpirs lqdhtplpgi iigdigpkmd fdqtdngflq lnhvrvpren mlsrfaqvlp
       61 dgtyvklgta qsnylpmvvv rvellsgeil pilqkacvia mrysvirrqs rlrpsdpeak
      121 vldyqtqqqk lfpqlaisya fhflavslle ffqhsytail nqdfsflpel halstgmkam
      181 msefctqgae mcrracgghg ysklsglpsl vtklsascty egentvlylq varflvksyl
      241 qtqmspgstp qrslspsvay ltapdlarcp aqraadflcp elyttawahv avrlikdsvq
      301 hlqtltqsga dqheawnqtt vihlqaakvh cyyvtvkgft ealeklenep aiqqvlkrlc
      361 dlhaihgilt nsgdflhdaf lsgaqvdmar tayldllrli rkdailltda fdftdqclns
      421 algcydgnvy erlfqwaqks ptntqenpay eeyirpllqs wrskl
//
LOCUS       XP_054204831            1259 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 17 isoform X4 [Homo sapiens].
ACCESSION   XP_054204831
VERSION     XP_054204831.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348856.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1259
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1259
                     /product="WD repeat-containing protein 17 isoform X4"
                     /calculated_mol_wt=140721
     CDS             1..1259
                     /gene="WDR17"
                     /coded_by="XM_054348856.1:297..4076"
                     /db_xref="GeneID:116966"
                     /db_xref="HGNC:HGNC:16661"
                     /db_xref="MIM:609005"
ORIGIN      
        1 mawmtyisnw feqddwyegl qranmsqvrq vgllaagcqp wnkdvcaasg drfaycatla
       61 iyiyqldhry nefklhaims ehkktitais wcphnpdlfa sgstdnlvii wnvaeqkvia
      121 kldstkgipa slswcwnaed vvafvshrgp lfiwtisgpd sgvivhkdah sflsdicmfr
      181 whthqkgkvv fghidgslsi fhpgnknqkh vlrpeslegt deedpvtale wdplstdyll
      241 vvnlhygirl vdseslscit tfnlpsaaas vqclawvpsa pgmfitgdsq vgvlriwnvs
      301 rttpidnlkl kktgfhclhv lnspprkkfs vqsptknhyt sstseavppp tltqnqafsl
      361 ppghavccfl dggvglydmg akkwdflrdl ghvetifdck fkpddpnlla tasfdgtikv
      421 wdintltavy tspgnegviy slswapggln ciaggtsrng afiwnvqkgk iiqrfnehgt
      481 ngifciawsh kdskriatcs sdgfciirti dgkvlhkykh paavfgcdws qnnntvriwd
      541 ytqdacinil nghtapvrgl mwnteipyll isgswdytik vwdtregtcv dtvydhgadv
      601 ygltchpsrp ftmascsrds tvrlwsltal vtpvqinila drsweeiign tdyaiepgtp
      661 pllcgkvsrd irqeieklta nsqvkklrwf seclsppggs dnlwnlvavi kgqddsllpq
      721 nyckgimhlk hlikfrtsea qelttvkmsk fgggigvptk eerlkeaaei hlrlgqiqry
      781 celmvelgew dkalsiapgv svkywkklmq rradqliqed kddvipycia igdvkklvhf
      841 fmsrgqlkea llvaqaaseg nmqplhvsvp kgasysddiy kedfnellhk vskelaewyf
      901 qdgravlaac chlaidniel amaylirgne lelavcvgtv lgesaapath yalellarkc
      961 mmisvcfpcv gyrnlaadll lmipdnelhl iklcafypgc teeindlhdk cklptveecm
     1021 qlaetaradd nifetvkyyl lsqepekalp igisfvkeyi sssdwtldti ypvldllsyi
     1081 rteklllhtc tearnellil cgyigallai rrqyqsivpa lyeytsqllk rrevsvplki
     1141 eylseeldaw ractqstnrs ledspytpps dsqrmiyatl lkrlkeeslk giigpdyvtg
     1201 snlpshsdih iscltglkiq gpvffledgk stislndalm wakvnpfspl gtgirlnpf
//
LOCUS       XP_054205193             992 aa            linear   PRI 20-MAR-2023
DEFINITION  evC complex member EVC isoform X1 [Homo sapiens].
ACCESSION   XP_054205193
VERSION     XP_054205193.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349218.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..992
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..992
                     /product="evC complex member EVC isoform X1"
                     /calculated_mol_wt=111802
     CDS             1..992
                     /gene="EVC"
                     /gene_synonym="DWF-1; EVC1; EVCL"
                     /coded_by="XM_054349218.1:181..3159"
                     /db_xref="GeneID:2121"
                     /db_xref="HGNC:HGNC:3497"
                     /db_xref="MIM:604831"
ORIGIN      
        1 marggaacks darlllgrda lrpapallap avllgaalgl glglwlgcra grqrtrhqkd
       61 dtqnllknle snaptpsetg spsrrrkrev qmskdkeavd eceppsnsni tafalkakvi
      121 ypinqkfrpl adgssnpslh enlkqavlph qpveaspsss lgslsqgekd dcsssssvhs
      181 atsddrflsr tflrvnafpe vlacesvdvd lciyslhlkd llhldtalrq ekhmmfiqif
      241 kmclldllpk kksddelhqk ilskqekdle elekglqvkl sntemsgagd seyitladve
      301 kkereyseql idnmeafwkq maniqhflvd qfkcssskar qlmmtlterm iaaegllcds
      361 qelqaldale rtmgrahmak vieflklqvq eetrcrlaai shglellage gklsgrqkee
      421 lltqqhkafw qeaerfsref vqrgkdlvka slahqvegta kltlaqeeeq rsflaeaqpt
      481 adpekfleaf hevlerqrlm qcdleeeenv rateavvalc qelyfstvdt fqkfvdalfl
      541 qtlpgmtglp peecdylrqe vqenaawqlg ksnrfqrqqw klfqelleqd qqvwmeecal
      601 ssvlqthlre dhegtirgvl grlggltees trcvlqghdl llrsalrrla lrgnalatlt
      661 qmrlsgkkhl lqelreqral eqgssqclde hqwqllrale arvleeasrl eeeaqqtrlq
      721 lqqrllaeaq evgqllqqhm ecaigqallv harnaatksr akdrddfkrt lmeaavesvy
      781 vtsagvsrlv qayyqqigri medheerklq hlktlqgerm enyklrkkqe lsnpssgsrt
      841 aggahetsqa vhqrmlsqqk rflaqfpvhq qmrlhaqqqq agvmdlleaq letqlqeaeq
      901 nfiselaala rvplaeskll pakrgllekp lrtkrkkplp qergdlgvpn nedlasgdqt
      961 sgslsskrls qqeseagdsg nskkmlkrrs nl
//
LOCUS       XP_054211507             503 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase parkin isoform X1 [Homo sapiens].
ACCESSION   XP_054211507
VERSION     XP_054211507.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355532.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..503
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..503
                     /product="E3 ubiquitin-protein ligase parkin isoform X1"
                     /calculated_mol_wt=55948
     CDS             1..503
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /coded_by="XM_054355532.1:936..2447"
                     /db_xref="GeneID:5071"
                     /db_xref="HGNC:HGNC:8607"
                     /db_xref="MIM:602544"
ORIGIN      
        1 mftarvtfns dnctyslkns epqpesgrly trpereypit vfvrfnsshg fpvevdsdts
       61 ifqlkevvak rqgvpadqlr vifagkelrn dwtvqncdld qqsivhivqr pwrkgqemna
      121 tggddprnaa ggcerepqsl trvdlsssvl pgdsvglavi lhtdsrkdsp pagspagrsi
      181 ynsfyvyckg pcqrvqpgkl rvqcstcrqa tltltqgpsc wddvlipnrm sgecqsphcp
      241 gtsaefffkc gahptsdket svalhliatn srnitcitct dvrspvlvfq cnsrhvicld
      301 cfhlycvtrl ndrqfvhdpq lgyslpcvag cpnslikelh hfrilgeeqy nryqqygaee
      361 cvlqmggvlc prpgcgagll pepdqrkvtc eggnglgcgf afcreckeay hegecsavfe
      421 asgtttqayr vderaaeqar weaasketik kttkpcprch vpveknggcm hmkcpqpqcr
      481 lewcwncgce wnrvcmgdhw fdv
//
LOCUS       XP_054218261            1283 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 171 isoform X7 [Homo
            sapiens].
ACCESSION   XP_054218261
VERSION     XP_054218261.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362286.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1283
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1283
                     /product="coiled-coil domain-containing protein 171
                     isoform X7"
                     /calculated_mol_wt=147847
     CDS             1..1283
                     /gene="CCDC171"
                     /gene_synonym="bA536D16.1; bA778P13.1; C9orf93"
                     /coded_by="XM_054362286.1:372..4223"
                     /db_xref="GeneID:203238"
                     /db_xref="HGNC:HGNC:29828"
ORIGIN      
        1 mnlntssntg dtqrlkiasl dvkqilknet elditdnlrk klhwakkekl eittkhnael
       61 asyesqiakl rsevekgeal rqsleydlav arkeaglgrr aaeerlaeah riqeklcaqn
      121 selqaktnet ekafqtsqqk wkeecrrfeh dleerdnmiq ncnreydllm keksrlektl
      181 qealekhqre knemeshire taleefrlqe eqweaerrel qfivqeqdta vqnmhkkvek
      241 letehmdcsd llrrqtsele fstqreerlr kefeattlrv rkleenieae raahleskfn
      301 seiiqlrird legalqveka sqaeavadle iiknefkeve sayerekhna qesfaklnll
      361 ekeyfsknkk lnedieeqkk viidlskrlq ynekscselq eelvmakkhq aflvetcenn
      421 vkelesilds ftvsgqwtsg ihkdkdkpps fsvvlerlrr tltdyqnkle dasnelnsmn
      481 dvkekacnel dstkqkidsh tknikelqdk ladvnkelsh lhtkcadrea listlkvelq
      541 nvlhcwekek aqaaqsesel qklsqafhkd aeekltflht lyqhlvagcv likqpegmld
      601 kfswselcav lqenvdalia dlnranekir hleyicknks dtmrelqqtq edtftkvaeq
      661 ikaqescwhr qkkelelqys elflevqkra qkfqeiaekn meklnhieks heqlvlensh
      721 fkkllsqtqr eqmsllaaca lmagalyply srscalstqr dflqeqvntf elfkleirtl
      781 aqalstveek kqeeakmkkk tfkglirifr kgviavlaan rlkilgqsca slftwmesfk
      841 egigmlvctg epqdkhkfpk hqkeqlrclq alswltssdl laaiissmae lqdvigkadp
      901 nsricghlli gaaknsfakl mdkislvmec iplhssrsit yvekdslvqr lahglhkvnt
      961 lalkyglrgh vpitkstasl qkqilgftqr lhaaeverrs lrlevtefkr svnemkkeld
     1021 kaqglqmqln efkqsklith ekfesaceel nnallreeqa qmllneqaqq lqelnyrlel
     1081 hsseeadknq tlgeavksls eakmelrrkd qslrqlnrhl tqleqdkrrl eenihdaesa
     1141 lrmaakdkec vanhmraven tlhkvrdqis lswsaasrnd ftlqlpklhl etfameglkg
     1201 gpevvacqig srdhsnlsip sraplpadtt gigdflplka eldttytflk etfintvpha
     1261 ltsshsspvt msananrptq igl
//
LOCUS       XP_054218761            1232 aa            linear   PRI 20-MAR-2023
DEFINITION  rap guanine nucleotide exchange factor 1 isoform X8 [Homo sapiens].
ACCESSION   XP_054218761
VERSION     XP_054218761.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362786.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1232
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1232
                     /product="rap guanine nucleotide exchange factor 1 isoform
                     X8"
                     /calculated_mol_wt=136239
     CDS             1..1232
                     /gene="RAPGEF1"
                     /gene_synonym="C3G; GRF2"
                     /coded_by="XM_054362786.1:422..4120"
                     /db_xref="GeneID:2889"
                     /db_xref="HGNC:HGNC:4568"
                     /db_xref="MIM:600303"
ORIGIN      
        1 mpisflgfrp slttleqnkr tggvvpdsqr shlssftmkl mdkfhspkik rtpskkgkpa
       61 evsvkipekp vnknlswlee kekevvsalr yfktivdkma idkkvlemlp gsaskvleai
      121 lplvqndpri qhssalsscy srvyqslanl irwsdqvmle gvnsedkemv ttvkgvikav
      181 ldgvkelvrl tiekqgrpsp tspvkpsspa skpdgpaelp ltdreveiln kttgmsqste
      241 llpdatdeev appkpplpgi rvvdnspppa lppkkrqsap sptrvavvap msratsgssl
      301 pvginrqdfd vdcyaqrrls ggshsygges prlspcssig klsksdeqls sldrdsgqcs
      361 rntscetldh ydpdyeflqq dlsnadqipq qtawnlsplp eslgesgspf lgppfqlplg
      421 ghpqpdgpla pgqqtdtppa lpekkrrsaa sqtadgsgcr vsyerhpsqy dnisgedlqs
      481 tapipsvpya pfaailpfqh ggssapvefv gdftapestg dpekppplpe kknkhmlaym
      541 qlledysepq psmfyqtpqn ehiyqqknkl lmevygfsds fsgvdsvqel apppalppkq
      601 rqlqascaas sfssvshcvq qtkvaftped gsaaqglsvs vsnsflsrhg slpvpsyksv
      661 frsysqdfvp hhqasvppfl pptssssphf ppahqsqssd lavptmagpp pstvdgplsa
      721 sqessfhgnt vclpsetsft dssenaseea gegeyvnlys sgqsseelap srgeppagkd
      781 ghprdpsavs gvpgkdsrdg serapkspda lesaqseeev delslidhne imsrltlkqe
      841 gddgpdvrgg sgdillvhat etdrkdlvly ceaflttyrt fispeelikk lqyryekfsp
      901 fadtfkkrvs kntffvlvrv vdelclvelt eeilkllmel vfrlvcngel slarvlrkni
      961 ldkvdqkkll rcatssqpla argvaarpgt lhdfhsheia eqltlldael fykieipevl
     1021 lwakeqneek spnltqfteh fnnmsywvrs iimlqekaqd rerlllkfik imkhlrklnn
     1081 fnsylailsa ldsapirrle wqkqtsegla eyctlidsss sfrayraals eveppcipyl
     1141 glilqdltfv hlgnpdyidg kvnfskrwqq fnildsmrcf qqahydmrrn ddiinffndf
     1201 sdhlaeealw elslkikprn itrrktdree kt
//
LOCUS       NP_001724                705 aa            linear   PRI 22-MAR-2023
DEFINITION  complement C1r subcomponent isoform 1 preproprotein [Homo sapiens].
ACCESSION   NP_001724 XP_930935 XP_935774
VERSION     NP_001724.4
DBSOURCE    REFSEQ: accession NM_001733.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 705)
  AUTHORS   Nakajima K, Suzuki H, Yamamoto M, Yamamoto T, Kawai T, Nakabayashi
            K, Hata K, Kosaki K, Nakajima H, Sano S and Kubo A.
  TITLE     A familial case of periodontal Ehlers-Danlos syndrome lacking skin
            extensibility and joint hypermobility with a missense mutation in
            C1R
  JOURNAL   J Dermatol 49 (7), 714-718 (2022)
   PUBMED   35365885
  REMARK    GeneRIF: A familial case of periodontal Ehlers-Danlos syndrome
            lacking skin extensibility and joint hypermobility with a missense
            mutation in C1R.
REFERENCE   2  (residues 1 to 705)
  AUTHORS   Wang X, Yang G, Wang Q, Zhao Y, Ding K, Ji C, Shi Z, Li H, Li Y and
            Li S.
  TITLE     C1R, CCL2, and TNFRSF1A Genes in Coronavirus Disease-COVID-19
            Pathway Serve as Novel Molecular Biomarkers of GBM Prognosis and
            Immune Infiltration
  JOURNAL   Dis Markers 2022, 8602068 (2022)
   PUBMED   35726234
  REMARK    GeneRIF: C1R, CCL2, and TNFRSF1A Genes in Coronavirus
            Disease-COVID-19 Pathway Serve as Novel Molecular Biomarkers of GBM
            Prognosis and Immune Infiltration.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 705)
  AUTHORS   Viiklepp K, Nissinen L, Ojalill M, Riihila P, Kallajoki M, Meri S,
            Heino J and Kahari VM.
  TITLE     C1r Upregulates Production of Matrix Metalloproteinase-13 and
            Promotes Invasion of Cutaneous Squamous Cell Carcinoma
  JOURNAL   J Invest Dermatol 142 (5), 1478-1488 (2022)
   PUBMED   34756877
  REMARK    GeneRIF: C1r Upregulates Production of Matrix Metalloproteinase-13
            and Promotes Invasion of Cutaneous Squamous Cell Carcinoma.
REFERENCE   4  (residues 1 to 705)
  AUTHORS   Zwarthoff SA, Widmer K, Kuipers A, Strasser J, Ruyken M, Aerts PC,
            de Haas CJC, Ugurlar D, den Boer MA, Vidarsson G, van Strijp JAG,
            Gros P, Parren PWHI, van Kessel KPM, Preiner J, Beurskens FJ,
            Schuurman J, Ricklin D and Rooijakkers SHM.
  TITLE     C1q binding to surface-bound IgG is stabilized by C1r2s2 proteases
  JOURNAL   Proc Natl Acad Sci U S A 118 (26) (2021)
   PUBMED   34155115
  REMARK    GeneRIF: C1q binding to surface-bound IgG is stabilized by C1r2s2
            proteases.
REFERENCE   5  (residues 1 to 705)
  AUTHORS   Grobner R, Kapferer-Seebacher I, Amberger A, Redolfi R, Dalonneau
            F, Bjorck E, Milnes D, Bally I, Rossi V, Thielens N, Stoiber H,
            Gaboriaud C and Zschocke J.
  TITLE     C1R Mutations Trigger Constitutive Complement 1 Activation in
            Periodontal Ehlers-Danlos Syndrome
  JOURNAL   Front Immunol 10, 2537 (2019)
   PUBMED   31749804
  REMARK    GeneRIF: C1R Mutations Trigger Constitutive Complement 1 Activation
            in Periodontal Ehlers-Danlos Syndrome.
            Erratum:[Front Immunol. 2019 Dec 04;10:2837. PMID: 31879527]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 705)
  AUTHORS   Kapferer-Seebacher,I., van Dijk,F.S. and Zschocke,J.
  TITLE     Periodontal Ehlers-Danlos Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   34324282
REFERENCE   7  (residues 1 to 705)
  AUTHORS   Luo C, Thielens NM, Gagnon J, Gal P, Sarvari M, Tseng Y, Tosi M,
            Zavodszky P, Arlaud GJ and Schumaker VN.
  TITLE     Recombinant human complement subcomponent C1s lacking
            beta-hydroxyasparagine, sialic acid, and one of its two
            carbohydrate chains still reassembles with C1q and C1r to form a
            functional C1 complex
  JOURNAL   Biochemistry 31 (17), 4254-4262 (1992)
   PUBMED   1533159
REFERENCE   8  (residues 1 to 705)
  AUTHORS   Lee,S.L., Wallace,S.L., Barone,R., Blum,L. and Chase,P.H.
  TITLE     Familial deficiency of two subunits of the first component of
            complement. C1r and C1s associated with a lupus erythematosus-like
            disease
  JOURNAL   Arthritis Rheum 21 (8), 958-967 (1978)
   PUBMED   737019
REFERENCE   9  (residues 1 to 705)
  AUTHORS   Ziccardi,R.J. and Cooper,N.R.
  TITLE     Activation of C1r by proteolytic cleavage
  JOURNAL   J Immunol 116 (2), 504-509 (1976)
   PUBMED   1249422
REFERENCE   10 (residues 1 to 705)
  AUTHORS   Ziccardi,R.J. and Cooper,N.R.
  TITLE     Physicochemical and functional characterization of the C1r subunit
            of the first complement component
  JOURNAL   J Immunol 116 (2), 496-503 (1976)
   PUBMED   814163
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC035220.1 and M14058.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 29, 2017 this sequence version replaced NP_001724.3.
            
            Summary: This gene encodes a member of the peptidase S1 protein
            family. The encoded protein is a proteolytic subunit in the
            complement system C1 complex. The complement system acts as a
            mediator in the innate immune response by ultimately triggering
            phagocytosis, inflammation, and rupturing the bacterial cell wall.
            Mutations in this gene are associated with Ehlers-Danlos Syndrome.
            [provided by RefSeq, Dec 2018].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC035220.1, SRR1803617.180836.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467144, SAMEA2467148
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000647956.2/ ENSP00000497341.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..705
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     Protein         1..705
                     /product="complement C1r subcomponent isoform 1
                     preproprotein"
                     /EC_number="3.4.21.41"
                     /note="complement component 1, r subcomponent; complement
                     C1r subcomponent"
                     /calculated_mol_wt=78269
     sig_peptide     1..17
                     /note="/evidence=ECO:0000269|PubMed:3036070; propagated
                     from UniProtKB/Swiss-Prot (P00736.2)"
                     /calculated_mol_wt=1923
     mat_peptide     18..705
                     /product="Complement C1r subcomponent. /id=PRO_0000027577"
                     /note="propagated from UniProtKB/Swiss-Prot (P00736.2)"
                     /calculated_mol_wt=78269
     mat_peptide     18..463
                     /product="Complement C1r subcomponent heavy chain.
                     /id=PRO_0000027578"
                     /note="propagated from UniProtKB/Swiss-Prot (P00736.2)"
                     /calculated_mol_wt=51191
     Site            order(26,28,30,57,62,104,135,137,139..140)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Region          27..138
                     /region_name="CUB"
                     /note="Domain first found in C1r, C1s, uEGF, and bone
                     morphogenetic protein; smart00042"
                     /db_xref="CDD:214483"
     Site            125
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P00736.2)"
     Site            order(142,145,167)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          161..189
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Site            167
                     /site_type="hydroxylation"
                     /note="(3R)-3-hydroxyasparagine.
                     /evidence=ECO:0000269|PubMed:2820791; propagated from
                     UniProtKB/Swiss-Prot (P00736.2)"
     Region          193..302
                     /region_name="CUB"
                     /note="CUB domain; pfam00431"
                     /db_xref="CDD:395345"
     Site            order(202,204,206,233,238,275,299,301,303..304)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Site            206
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:8635594; propagated from
                     UniProtKB/Swiss-Prot (P00736.2)"
     Site            221
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P00736.2)"
     Region          309..371
                     /region_name="Sushi"
                     /note="Sushi repeat (SCR repeat); pfam00084"
                     /db_xref="CDD:425458"
     Site            order(320,339)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          376..447
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(386,407)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          463..697
                     /region_name="Tryp_SPc"
                     /note="Trypsin-like serine protease; smart00020"
                     /db_xref="CDD:214473"
     mat_peptide     464..705
                     /product="Complement C1r subcomponent light chain.
                     /id=PRO_0000027579"
                     /note="propagated from UniProtKB/Swiss-Prot (P00736.2)"
                     /calculated_mol_wt=27096
     Site            464
                     /site_type="active"
                     /note="cleavage site [active]"
                     /db_xref="CDD:238113"
     Site            order(502,557,654)
                     /site_type="active"
                     /db_xref="CDD:238113"
     Site            514
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P00736.2)"
     Site            581
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P00736.2)"
     Site            order(648,675,677)
                     /site_type="other"
                     /note="substrate binding sites [chemical binding]"
                     /db_xref="CDD:238113"
     CDS             1..705
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /coded_by="NM_001733.7:58..2175"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS81658.1"
                     /db_xref="GeneID:715"
                     /db_xref="HGNC:HGNC:1246"
                     /db_xref="MIM:613785"
ORIGIN      
        1 mwllyllvpa lfcraggsip ipqklfgevt splfpkpypn nfetttvitv ptgyrvklvf
       61 qqfdlepseg cfydyvkisa dkkslgrfcg qlgsplgnpp gkkefmsqgn kmlltfhtdf
      121 sneengtimf ykgflayyqa vdldecasrs ksgeedpqpq cqhlchnyvg gyfcscrpgy
      181 elqedrhscq aecsselyte asgyissley prsyppdlrc nysirvergl tlhlkflepf
      241 diddhqqvhc pydqlqiyan gknigefcgk qrppdldtss navdllfftd esgdsrgwkl
      301 rytteiikcp qpktldefti iqnlqpqyqf rdyfiatckq gyqliegnqv lhsftavcqd
      361 dgtwhrampr ckikdcgqpr nlpngdfryt ttmgvntyka riqyychepy ykmqtragsr
      421 eseqgvytct aqgiwkneqk gekiprclpv cgkpvnpveq rqriiggqka kmgnfpwqvf
      481 tnihgrggga llgdrwilta ahtlypkehe aqsnasldvf lghtnveelm klgnhpirrv
      541 svhpdyrqde synfegdial lelensvtlg pnllpiclpd ndtfydlglm gyvsgfgvme
      601 ekiahdlrfv rlpvanpqac enwlrgknrm dvfsqnmfca ghpslkqdac qgdsggvfav
      661 rdpntdrwva tgivswgigc srgygfytkv lnyvdwikke meeed
//
LOCUS       NP_073603                537 aa            linear   PRI 24-MAR-2023
DEFINITION  ceramide kinase [Homo sapiens].
ACCESSION   NP_073603
VERSION     NP_073603.2
DBSOURCE    REFSEQ: accession NM_022766.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 537)
  AUTHORS   Huang C, Su L, Chen Y, Wu S, Sun R, Xu Q, Qiu X, Yang C, Kong X,
            Qin H, Zhao X, Jiang X, Wang K, Zhu Y and Wong PP.
  TITLE     Ceramide kinase confers tamoxifen resistance in estrogen
            receptor-positive breast cancer by altering sphingolipid metabolism
  JOURNAL   Pharmacol Res 187, 106558 (2023)
   PUBMED   36410675
  REMARK    GeneRIF: Ceramide kinase confers tamoxifen resistance in estrogen
            receptor-positive breast cancer by altering sphingolipid
            metabolism.
REFERENCE   2  (residues 1 to 537)
  AUTHORS   Bhadwal P, Randhawa V, Vaiphei K, Dahiya D and Agnihotri N.
  TITLE     Clinical relevance of CERK and SPHK1 in breast cancer and their
            association with metastasis and drug resistance
  JOURNAL   Sci Rep 12 (1), 18239 (2022)
   PUBMED   36309544
  REMARK    GeneRIF: Clinical relevance of CERK and SPHK1 in breast cancer and
            their association with metastasis and drug resistance.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 537)
  AUTHORS   Al-Rashed F, Ahmad Z, Snider AJ, Thomas R, Kochumon S, Melhem M,
            Sindhu S, Obeid LM, Al-Mulla F, Hannun YA and Ahmad R.
  TITLE     Ceramide kinase regulates TNF-alpha-induced immune responses in
            human monocytic cells
  JOURNAL   Sci Rep 11 (1), 8259 (2021)
   PUBMED   33859296
  REMARK    GeneRIF: Ceramide kinase regulates TNF-alpha-induced immune
            responses in human monocytic cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 537)
  AUTHORS   Tomizawa S, Tamori M, Tanaka A, Utsumi N, Sato H, Hatakeyama H,
            Hisaka A, Kohama T, Yamagata K, Honda T, Nakamura H and Murayama T.
  TITLE     Inhibitory effects of ceramide kinase on Rac1 activation,
            lamellipodium formation, cell migration, and metastasis of A549
            lung cancer cells
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1865 (6), 158675 (2020)
   PUBMED   32112978
  REMARK    GeneRIF: Inhibitory effects of ceramide kinase on Rac1 activation,
            lamellipodium formation, cell migration, and metastasis of A549
            lung cancer cells.
REFERENCE   5  (residues 1 to 537)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 537)
  AUTHORS   Sugiura M, Kono K, Liu H, Shimizugawa T, Minekura H, Spiegel S and
            Kohama T.
  TITLE     Ceramide kinase, a novel lipid kinase. Molecular cloning and
            functional characterization
  JOURNAL   J Biol Chem 277 (26), 23294-23300 (2002)
   PUBMED   11956206
  REMARK    GeneRIF: Molecular cloning and functional characterization
REFERENCE   7  (residues 1 to 537)
  AUTHORS   Hirosawa M, Nagase T, Murahashi Y, Kikuno R and Ohara O.
  TITLE     Identification of novel transcribed sequences on human chromosome
            22 by expressed sequence tag mapping
  JOURNAL   DNA Res 8 (1), 1-9 (2001)
   PUBMED   11258795
REFERENCE   8  (residues 1 to 537)
  AUTHORS   Pitson SM, D'andrea RJ, Vandeleur L, Moretti PA, Xia P, Gamble JR,
            Vadas MA and Wattenberg BW.
  TITLE     Human sphingosine kinase: purification, molecular cloning and
            characterization of the native and recombinant enzymes
  JOURNAL   Biochem J 350 Pt 2 (Pt 2), 429-441 (2000)
   PUBMED   10947957
REFERENCE   9  (residues 1 to 537)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   10 (residues 1 to 537)
  AUTHORS   Hinkovska-Galcheva VT, Boxer LA, Mansfield PJ, Harsh D, Blackwood A
            and Shayman JA.
  TITLE     The formation of ceramide-1-phosphate during neutrophil
            phagocytosis and its role in liposome fusion
  JOURNAL   J Biol Chem 273 (50), 33203-33209 (1998)
   PUBMED   9837889
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL118516.10 and AL096766.12.
            On Apr 29, 2002 this sequence version replaced NP_073603.1.
            
            Summary: CERK converts ceramide to ceramide 1-phosphate (C1P), a
            sphingolipid metabolite. Both CERK and C1P have been implicated in
            various cellular processes, including proliferation, apoptosis,
            phagocytosis, and inflammation (Kim et al., 2006 [PubMed
            16488390]).[supplied by OMIM, Mar 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB079066.1, SRR1803616.221518.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216264.13/ ENSP00000216264.8
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..537
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.31"
     Protein         1..537
                     /product="ceramide kinase"
                     /EC_number="2.7.1.138"
                     /note="lipid kinase LK4; lipid kinase 4; acylsphingosine
                     kinase"
                     /calculated_mol_wt=59847
     Region          1..125
                     /region_name="Required for binding to sulfatide and
                     phosphoinositides. /evidence=ECO:0000269|PubMed:19168031"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCT0.1)"
     Region          1..115
                     /region_name="Essential for enzyme activity.
                     /evidence=ECO:0000269|PubMed:16269826"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCT0.1)"
     Region          55..528
                     /region_name="DAGK_cat"
                     /note="Diacylglycerol kinase catalytic domain; cl01255"
                     /db_xref="CDD:445337"
     Site            340
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19899769; propagated from
                     UniProtKB/Swiss-Prot (Q8TCT0.1)"
     Site            408
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19899769; propagated from
                     UniProtKB/Swiss-Prot (Q8TCT0.1)"
     CDS             1..537
                     /gene="CERK"
                     /gene_synonym="dA59H18.2; dA59H18.3; hCERK; LK4"
                     /coded_by="NM_022766.6:105..1718"
                     /db_xref="CCDS:CCDS14077.1"
                     /db_xref="GeneID:64781"
                     /db_xref="HGNC:HGNC:19256"
                     /db_xref="MIM:610307"
ORIGIN      
        1 mgatgaaepl qsvlwvkqqr cavslepara llrwwrspgp gagapgadac svpvseiiav
       61 eetdvhgkhq gsgkwqkmek pyaftvhcvk rarrhrwkwa qvtfwcpeeq lchlwlqtlr
      121 emlekltsrp khllvfinpf ggkgqgkriy erkvaplftl asittdiivt ehanqaketl
      181 yeinidkydg ivcvggdgmf sevlhgligr tqrsagvdqn hpravlvpss lrigiipags
      241 tdcvcystvg tsdaetsalh ivvgdslamd vssvhhnstl lrysvsllgy gfygdiikds
      301 ekkrwlglar ydfsglktfl shhcyegtvs flpaqhtvgs prdrkpcrag cfvcrqskqq
      361 leeeqkkaly gleaaedvee wqvvcgkfla inatnmscac rrsprglspa ahlgdgssdl
      421 ilirkcsrfn flrflirhtn qqdqfdftfv evyrvkkfqf tskhmededs dlkeggkkrf
      481 ghicsshpsc cctvsnsswn cdgevlhspa ievrvhcqlv rlfargieen pkpdshs
//
LOCUS       NP_001231663             546 aa            linear   PRI 26-MAR-2023
DEFINITION  MARVEL domain-containing protein 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001231663
VERSION     NP_001231663.1
DBSOURCE    REFSEQ: accession NM_001244734.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 546)
  AUTHORS   Han W, Jin M, Liu C, Zhao Q, Wang S, Wang Y, Yin Y, Peng C, Wang Y
            and Cong Y.
  TITLE     Structural basis of plp2-mediated cytoskeletal protein folding by
            TRiC/CCT
  JOURNAL   Sci Adv 9 (11), eade1207 (2023)
   PUBMED   36921056
  REMARK    GeneRIF: Structural basis of plp2-mediated cytoskeletal protein
            folding by TRiC/CCT.
REFERENCE   2  (residues 1 to 546)
  AUTHORS   He Y and Li DZ.
  TITLE     Co-occurrence of two rare genetic diseases: A potential pitfall for
            prenatal diagnosis in successive pregnancies
  JOURNAL   Prenat Diagn 40 (12), 1606-1609 (2020)
   PUBMED   33015857
  REMARK    GeneRIF: Co-occurrence of two rare genetic diseases: A potential
            pitfall for prenatal diagnosis in successive pregnancies.
REFERENCE   3  (residues 1 to 546)
  AUTHORS   Zhang JX, Qin MB, Ye Z, Peng P, Li SM, Song Q, Lin L, Liu SQ, Xie
            LH, Zhu Y and Huang JA.
  TITLE     Association of tricellulin expression with poor colorectal cancer
            prognosis and metastasis
  JOURNAL   Oncol Rep 44 (5), 2174-2184 (2020)
   PUBMED   33000262
  REMARK    GeneRIF: Association of tricellulin expression with poor colorectal
            cancer prognosis and metastasis.
REFERENCE   4  (residues 1 to 546)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 546)
  AUTHORS   Taghipour-Sheshdeh A, Nemati-Zargaran F, Zarepour N, Tahmasebi P,
            Saki N, Tabatabaiefar MA, Mohammadi-Asl J and
            Hashemzadeh-Chaleshtori M.
  TITLE     A novel pathogenic variant in the MARVELD2 gene causes autosomal
            recessive non-syndromic hearing loss in an Iranian family
  JOURNAL   Genomics 111 (4), 840-848 (2019)
   PUBMED   29752989
  REMARK    GeneRIF: Recessive insertion variant in the MARVELD2 segregates
            with non-syndromic hearing loss in an Iranian family.
REFERENCE   6  (residues 1 to 546)
  AUTHORS   Ikenouchi J, Furuse M, Furuse K, Sasaki H, Tsukita S and Tsukita S.
  TITLE     Tricellulin constitutes a novel barrier at tricellular contacts of
            epithelial cells
  JOURNAL   J Cell Biol 171 (6), 939-945 (2005)
   PUBMED   16365161
REFERENCE   7  (residues 1 to 546)
  AUTHORS   Zhang Y, Wolf-Yadlin A, Ross PL, Pappin DJ, Rush J, Lauffenburger
            DA and White FM.
  TITLE     Time-resolved mass spectrometry of tyrosine phosphorylation sites
            in the epidermal growth factor receptor signaling network reveals
            dynamic modules
  JOURNAL   Mol Cell Proteomics 4 (9), 1240-1250 (2005)
   PUBMED   15951569
REFERENCE   8  (residues 1 to 546)
  AUTHORS   Ramzan K, Shaikh RS, Ahmad J, Khan SN, Riazuddin S, Ahmed ZM,
            Friedman TB, Wilcox ER and Riazuddin S.
  TITLE     A new locus for nonsyndromic deafness DFNB49 maps to chromosome
            5q12.3-q14.1
  JOURNAL   Hum Genet 116 (1-2), 17-22 (2005)
   PUBMED   15538632
  REMARK    GeneRIF: Maps to 5q12.3-q14.1.
REFERENCE   9  (residues 1 to 546)
  AUTHORS   Gubin AN, Njoroge JM, Bouffard GG and Miller JL.
  TITLE     Gene expression in proliferating human erythroid cells
  JOURNAL   Genomics 59 (2), 168-177 (1999)
   PUBMED   10409428
REFERENCE   10 (residues 1 to 546)
  AUTHORS   Shearer,A.E., Hildebrand,M.S. and Smith,R.J.H.
  TITLE     Hereditary Hearing Loss and Deafness Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG943115.1, AC145146.2,
            DQ682657.1 and BC033689.1.
            
            Summary: The protein encoded by this gene is a membrane protein
            found at the tight junctions between epithelial cells. The encoded
            protein helps establish epithelial barriers such as those in the
            organ of Corti, where these barriers are required for normal
            hearing. Defects in this gene are a cause of deafness autosomal
            recessive type 49 (DFNB49). Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Sep 2011].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (2) has the same
            N- and C-termini but is shorter compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.176169.1, DQ682657.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142363
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..546
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     Protein         1..546
                     /product="MARVEL domain-containing protein 2 isoform 2"
                     /note="tricellulin; MARVEL (membrane-associating) domain
                     containing 2; MARVEL domain-containing protein 2"
                     /calculated_mol_wt=62666
     Region          185..361
                     /region_name="MARVEL"
                     /note="Membrane-associating domain; pfam01284"
                     /db_xref="CDD:366555"
     Region          434..536
                     /region_name="Occludin_ELL"
                     /note="Occludin homology domain; pfam07303"
                     /db_xref="CDD:429396"
     CDS             1..546
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /coded_by="NM_001244734.2:71..1711"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS58956.1"
                     /db_xref="GeneID:153562"
                     /db_xref="HGNC:HGNC:26401"
                     /db_xref="MIM:610572"
ORIGIN      
        1 msndgrsrnr drrydevpsd lpyqdttirt hptlhdsera vsadplpppp lplqppfgpd
       61 fyssdteepa iapdlkpvrr fvpdswknff rgkkkdpewd kpvsdiryis dgvecsppas
      121 parpnhrspl nsckdpyggs egtfssrkea davfprdpyg sldrhtqtvr tysekveeyn
      181 lrysymkswa gllrilgvve lllgagvfac vtayihkdse wynlfgysqp ygmggvgglg
      241 smyggyyytg pktpfvlvva glawittiii lvlgmsmyyr tilldsnwwp ltefginval
      301 filymaaaiv yvndtnrggl cyyplfntpv navfcrvegg qiaamiflfv tmivylisal
      361 vclklwrhea arrhreymeq qecematsgd rqrdsevnfk elrtakmkpe llsghippgh
      421 ipkpivmpdy vakypviqtd dererykavf qdqfseykel saevqavlrk fdeldavmsr
      481 lphhsesrqe herisrihee fkkkkndptf lekkercdyl knklshikqr iqeydkvmnw
      541 dvqgys
//
LOCUS       NP_001375249             802 aa            linear   PRI 10-APR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase alpha isoform 1
            precursor [Homo sapiens].
ACCESSION   NP_001375249
VERSION     NP_001375249.1
DBSOURCE    REFSEQ: accession NM_001388320.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 802)
  AUTHORS   Fang J, Zhang Y, Huang C, Lu R, Yu J, Chen R, Wang Y, Zhao X, Yu J
            and Huang J.
  TITLE     Glucose-mediated N-glycosylation of RPTPalpha affects its
            subcellular localization and Src activation
  JOURNAL   Oncogene 42 (14), 1058-1071 (2023)
   PUBMED   36765146
  REMARK    GeneRIF: Glucose-mediated N-glycosylation of RPTPalpha affects its
            subcellular localization and Src activation.
REFERENCE   2  (residues 1 to 802)
  AUTHORS   Hill MA, Bentley SR, Walker TL, Mellick GD, Wood SA and Sykes AM.
  TITLE     Does a rare mutation in PTPRA contribute to the development of
            Parkinson's disease in an Australian multi-incident family?
  JOURNAL   PLoS One 17 (7), e0271499 (2022)
   PUBMED   35900966
  REMARK    GeneRIF: Does a rare mutation in PTPRA contribute to the
            development of Parkinson's disease in an Australian multi-incident
            family?
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 802)
  AUTHORS   Xie F, Huang C, Liu F, Zhang H, Xiao X, Sun J, Zhang X and Jiang G.
  TITLE     CircPTPRA blocks the recognition of RNA N6-methyladenosine through
            interacting with IGF2BP1 to suppress bladder cancer progression
  JOURNAL   Mol Cancer 20 (1), 68 (2021)
   PUBMED   33853613
  REMARK    GeneRIF: CircPTPRA blocks the recognition of RNA
            N(6)-methyladenosine through interacting with IGF2BP1 to suppress
            bladder cancer progression.
            Erratum:[Mol Cancer. 2022 Nov 1;21(1):205. PMID: 36316700]
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 802)
  AUTHORS   Decotret LR, Wadsworth BJ, Li LV, Lim CJ, Bennewith KL and Pallen
            CJ.
  TITLE     Receptor-type protein tyrosine phosphatase alpha (PTPalpha)
            mediates MMP14 localization and facilitates triple-negative breast
            cancer cell invasion
  JOURNAL   Mol Biol Cell 32 (7), 567-578 (2021)
   PUBMED   33566639
  REMARK    GeneRIF: Receptor-type protein tyrosine phosphatase alpha
            (PTPalpha) mediates MMP14 localization and facilitates
            triple-negative breast cancer cell invasion.
REFERENCE   5  (residues 1 to 802)
  AUTHORS   Wen Y, Yang S, Wakabayashi K, Svensson MND, Stanford SM, Santelli E
            and Bottini N.
  TITLE     RPTPalpha phosphatase activity is allosterically regulated by the
            membrane-distal catalytic domain
  JOURNAL   J Biol Chem 295 (15), 4923-4936 (2020)
   PUBMED   32139509
  REMARK    GeneRIF: RPTPalpha phosphatase activity is allosterically regulated
            by the membrane-distal catalytic domain.
REFERENCE   6  (residues 1 to 802)
  AUTHORS   Zheng XM, Wang Y and Pallen CJ.
  TITLE     Cell transformation and activation of pp60c-src by overexpression
            of a protein tyrosine phosphatase
  JOURNAL   Nature 359 (6393), 336-339 (1992)
   PUBMED   1383828
REFERENCE   7  (residues 1 to 802)
  AUTHORS   Rao VV, Loffler C, Sap J, Schlessinger J and Hansmann I.
  TITLE     The gene for receptor-linked protein-tyrosine-phosphatase (PTPA) is
            assigned to human chromosome 20p12-pter by in situ hybridization
            (ISH and FISH)
  JOURNAL   Genomics 13 (3), 906-907 (1992)
   PUBMED   1639427
REFERENCE   8  (residues 1 to 802)
  AUTHORS   Jirik FR, Anderson LL and Duncan AM.
  TITLE     The human protein-tyrosine phosphatase PTP alpha/LRP gene (PTPA) is
            assigned to chromosome 20p13
  JOURNAL   Cytogenet Cell Genet 60 (2), 117-118 (1992)
   PUBMED   1611910
REFERENCE   9  (residues 1 to 802)
  AUTHORS   Kaplan R, Morse B, Huebner K, Croce C, Howk R, Ravera M, Ricca G,
            Jaye M and Schlessinger J.
  TITLE     Cloning of three human tyrosine phosphatases reveals a multigene
            family of receptor-linked protein-tyrosine-phosphatases expressed
            in brain
  JOURNAL   Proc Natl Acad Sci U S A 87 (18), 7000-7004 (1990)
   PUBMED   2169617
REFERENCE   10 (residues 1 to 802)
  AUTHORS   Sap J, D'Eustachio P, Givol D and Schlessinger J.
  TITLE     Cloning and expression of a widely expressed receptor tyrosine
            phosphatase
  JOURNAL   Proc Natl Acad Sci U S A 87 (16), 6112-6116 (1990)
   PUBMED   2166945
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161656.20 and AL121905.23.
            
            Summary: The protein encoded by this gene is a member of the
            protein tyrosine phosphatase (PTP) family. PTPs are known to be
            signaling molecules that regulate a variety of cellular processes
            including cell growth, differentiation, mitotic cycle, and
            oncogenic transformation. This PTP contains an extracellular
            domain, a single transmembrane segment and two tandem
            intracytoplasmic catalytic domains, and thus represents a
            receptor-type PTP. This PTP has been shown to dephosphorylate and
            activate Src family tyrosine kinases, and is implicated in the
            regulation of integrin signaling, cell adhesion and proliferation.
            Three alternatively spliced variants of this gene, which encode two
            distinct isoforms, have been reported. [provided by RefSeq, Jul
            2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.2493730.1,
                                           SRR14038191.2929911.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145245, SAMEA2146236
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..802
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     Protein         1..802
                     /product="receptor-type tyrosine-protein phosphatase alpha
                     isoform 1 precursor"
                     /EC_number="3.1.3.48"
                     /note="protein tyrosine phosphatase, receptor type, alpha
                     polypeptide; PTPase-alpha; Leukocyte common
                     antigen-related peptide (protein tyrosine phosphate);
                     tyrosine phosphatase alpha; PTPLCA-related phosphatase;
                     receptor-type tyrosine-protein phosphatase alpha;
                     protein-tyrosine phosphatase alpha"
                     /calculated_mol_wt=88713
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2024
     mat_peptide     20..802
                     /product="Receptor-type tyrosine-protein phosphatase
                     alpha. /id=PRO_0000025433"
                     /note="propagated from UniProtKB/Swiss-Prot (P18433.3)"
                     /calculated_mol_wt=88713
     Site            21
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P18433.3)"
     Site            36
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P18433.3)"
     Region          39..59
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18433.3)"
     Site            68
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P18433.3)"
     Region          79..146
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P18433.3)"
     Site            80
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P18433.3)"
     Site            86
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P18433.3)"
     Site            104
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P18433.3)"
     Site            124
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P18433.3)"
     Site            152..174
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P18433.3)"
     Site            211
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P18052; propagated from
                     UniProtKB/Swiss-Prot (P18433.3)"
     Site            213
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P18052; propagated from
                     UniProtKB/Swiss-Prot (P18433.3)"
     Region          214..509
                     /region_name="R-PTPc-A-1"
                     /note="catalytic domain of receptor-type tyrosine-protein
                     phosphatase A, repeat 1; cd14621"
                     /db_xref="CDD:350469"
     Region          563..790
                     /region_name="R-PTPc-A-2"
                     /note="catalytic domain of receptor-type tyrosine-protein
                     phosphatase A, repeat 2; cd14623"
                     /db_xref="CDD:350471"
     Site            798
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:22801373,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P18433.3)"
     CDS             1..802
                     /gene="PTPRA"
                     /gene_synonym="HEPTP; HLPR; HPTPA; HPTPalpha; LRP; PTPA;
                     PTPRL2; R-PTP-alpha; RPTPA"
                     /coded_by="NM_001388320.1:499..2907"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 23"
                     /db_xref="CCDS:CCDS13038.1"
                     /db_xref="GeneID:5786"
                     /db_xref="HGNC:HGNC:9664"
                     /db_xref="MIM:176884"
ORIGIN      
        1 mdswfilvll gsglicvsan nattvapsvg itrlinssta epvkeeakts nptssltsls
       61 vaptfspnit lgptylttvn ssdsdngttr tastnsigit ispngtwlpd nqftdartep
      121 wegnsstaat tpetfppsgn sdskdrrdet piiavmvals sllvivfiii vlymlrfkky
      181 kqagshsnsf rlsngrtedv epqsvpllar spstnrkypp lpvdkleeei nrrmaddnkl
      241 freefnalpa cpiqatceaa skeenkeknr yvnilpydhs rvhltpvegv pdsdyinasf
      301 ingyqeknkf iaaqgpkeet vndfwrmiwe qntativmvt nlkerkeckc aqywpdqgcw
      361 tygnirvsve dvtvlvdytv rkfciqqvgd mtnrkpqrli tqfhftswpd fgvpftpigm
      421 lkflkkvkac npqyagaivv hcsagvgrtg tfvvidamld mmhterkvdv ygfvsriraq
      481 rcqmvqtdmq yvfiyqalle hylygdtele vtslethlqk iynkipgtsn ngleeefkkl
      541 tsikiqndkm rtgnlpanmk knrvlqiipy efnrviipvk rgeentdyvn asfidgyrqk
      601 dsyiasqgpl lhtiedfwrm iwewkscsiv mlteleergq ekcaqywpsd glvsygditv
      661 elkkeeeces ytvrdllvtn trenksrqir qfhfhgwpev gipsdgkgmi siiaavqkqq
      721 qqsgnhpitv hcsagagrtg tfcalstvle rvkaegildv fqtvkslrlq rphmvqtleq
      781 yefcykvvqe yidafsdyan fk
//
LOCUS       NP_001361790             611 aa            linear   PRI 10-APR-2023
DEFINITION  serine protease FAM111A [Homo sapiens].
ACCESSION   NP_001361790
VERSION     NP_001361790.1
DBSOURCE    REFSEQ: accession NM_001374861.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 611)
  AUTHORS   Ren K, Zhu Y, Sun H, Li S, Duan X, Li S, Li Y, Li B and Chen L.
  TITLE     IRF2 inhibits ZIKV replication by promoting FAM111A expression to
            enhance the host restriction effect of RFC3
  JOURNAL   Virol J 18 (1), 256 (2021)
   PUBMED   34930359
  REMARK    GeneRIF: IRF2 inhibits ZIKV replication by promoting FAM111A
            expression to enhance the host restriction effect of RFC3.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 611)
  AUTHORS   Muller R, Steffensen T, Krstic N and Cain MA.
  TITLE     Report of a novel variant in the FAM111A gene in a fetus with
            multiple anomalies including gracile bones, hypoplastic spleen, and
            hypomineralized skull
  JOURNAL   Am J Med Genet A 185 (6), 1903-1907 (2021)
   PUBMED   33750016
  REMARK    GeneRIF: Report of a novel variant in the FAM111A gene in a fetus
            with multiple anomalies including gracile bones, hypoplastic
            spleen, and hypomineralized skull.
REFERENCE   3  (residues 1 to 611)
  AUTHORS   Nie M, Oravcova M, Jami-Alahmadi Y, Wohlschlegel JA,
            Lazzerini-Denchi E and Boddy MN.
  TITLE     FAM111A induces nuclear dysfunction in disease and viral
            restriction
  JOURNAL   EMBO Rep 22 (2), e50803 (2021)
   PUBMED   33369867
  REMARK    GeneRIF: FAM111A induces nuclear dysfunction in disease and viral
            restriction.
REFERENCE   4  (residues 1 to 611)
  AUTHORS   Nikkel SM, Ahmed A, Smith A, Marcadier J, Bulman DE and Boycott KM.
  TITLE     Mother-to-daughter transmission of Kenny-Caffey syndrome associated
            with the recurrent, dominant FAM111A mutation p.Arg569His
  JOURNAL   Clin Genet 86 (4), 394-395 (2014)
   PUBMED   24635597
  REMARK    GeneRIF: Together, these data suggest that FAM111A may also be
            important in the development and function of male genitalia. 394
REFERENCE   5  (residues 1 to 611)
  AUTHORS   Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji
            T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S and
            Kitanaka S.
  TITLE     A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome
            type 2
  JOURNAL   J Bone Miner Res 29 (4), 992-998 (2014)
   PUBMED   23996431
  REMARK    GeneRIF: study would provide evidence that FAM111A is a key
            molecule for normal bone development, height gain, and parathyroid
            hormone development and/or regulation
REFERENCE   6  (residues 1 to 611)
  AUTHORS   Alabert C, Bukowski-Wills JC, Lee SB, Kustatscher G, Nakamura K, de
            Lima Alves F, Menard P, Mejlvang J, Rappsilber J and Groth A.
  TITLE     Nascent chromatin capture proteomics determines chromatin dynamics
            during DNA replication and identifies unknown fork components
  JOURNAL   Nat Cell Biol 16 (3), 281-293 (2014)
   PUBMED   24561620
  REMARK    GeneRIF: FAM111A is a replication factor required for PCNA loading.
REFERENCE   7  (residues 1 to 611)
  AUTHORS   Unger S, Gorna MW, Le Bechec A, Do Vale-Pereira S, Bedeschi MF,
            Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E,
            Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling
            F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier
            B, Bonafe L, Superti-Furga G, Stevenson B and Superti-Furga A.
  TITLE     FAM111A mutations result in hypoparathyroidism and impaired
            skeletal development
  JOURNAL   Am J Hum Genet 92 (6), 990-995 (2013)
   PUBMED   23684011
  REMARK    GeneRIF: FAM111A appears to be crucial to a pathway that governs
            parathyroid hormone production, calcium homeostasis, and skeletal
            development and growth.
REFERENCE   8  (residues 1 to 611)
  AUTHORS   Fine DA, Rozenblatt-Rosen O, Padi M, Korkhin A, James RL, Adelmant
            G, Yoon R, Guo L, Berrios C, Zhang Y, Calderwood MA, Velmurgan S,
            Cheng J, Marto JA, Hill DE, Cusick ME, Vidal M, Florens L, Washburn
            MP, Litovchick L and DeCaprio JA.
  TITLE     Identification of FAM111A as an SV40 host range restriction and
            adenovirus helper factor
  JOURNAL   PLoS Pathog 8 (10), e1002949 (2012)
   PUBMED   23093934
  REMARK    GeneRIF: FAM111A functions as a host range restriction factor that
            is specifically targeted by SV40 large T antigen
REFERENCE   9  (residues 1 to 611)
  AUTHORS   Cheng,S., Lo,I.F.M. and Luk,H.M.
  TITLE     FAM111A-Related Skeletal Dysplasias
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37023242
REFERENCE   10 (residues 1 to 611)
  AUTHORS   Mazur-Stazka E.
  TITLE     [Usefulness of the rheocardiogram for determination of left
            ventricular contraction periods in patients with chronic
            circulatory failure]
  JOURNAL   Wiad Lek 43 (5-6), 175-182 (1990)
   PUBMED   2368401
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001258.4.
            
            Summary: The protein encoded by this gene is cell-cycle regulated,
            and has nuclear localization. The C-terminal half of the protein
            shares homology with trypsin-like peptidases and it contains a
            PCNA-interacting peptide (PIP) box, that is necessary for its
            co-localization with proliferating cell nuclear antigen (PCNA).
            Reduced expression of this gene resulted in DNA replication
            defects, consistent with the demonstrated role for this gene in
            Simian Virus 40 (SV40) viral replication. Mutations in this gene
            have been associated with Kenny-Caffey syndrome (KCS) type 2 and
            the more severe osteocraniostenosis (OCS, also known as Gracile
            Bone Dysplasia), both characterized by short stature,
            hypoparathyroidism, bone development abnormalities, and
            hypocalcemia. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.891579.1,
                                           SRR14038191.1979028.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..611
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     Protein         1..611
                     /product="serine protease FAM111A"
                     /note="protein FAM111A; family with sequence similarity
                     111 member A"
                     /calculated_mol_wt=70065
     Region          16..28
                     /region_name="PIP-box.
                     /evidence=ECO:0000269|PubMed:24561620"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PZ2.2)"
     Site            26
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96PZ2.2)"
     Region          44..73
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PZ2.2)"
     Site            334..335
                     /site_type="cleavage"
                     /note="Cleavage, by autolysis.
                     /evidence=ECO:0000305|PubMed:32165630; propagated from
                     UniProtKB/Swiss-Prot (Q96PZ2.2)"
     Region          336..611
                     /region_name="Interaction with SV40 large T antigen.
                     /evidence=ECO:0000269|PubMed:23093934"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PZ2.2)"
     Region          370..555
                     /region_name="Trypsin_2"
                     /note="Trypsin-like peptidase domain; pfam13365"
                     /db_xref="CDD:433149"
     CDS             1..611
                     /gene="FAM111A"
                     /gene_synonym="GCLEB; KCS2"
                     /coded_by="NM_001374861.1:2773..4608"
                     /db_xref="CCDS:CCDS7973.1"
                     /db_xref="GeneID:63901"
                     /db_xref="HGNC:HGNC:24725"
                     /db_xref="MIM:615292"
ORIGIN      
        1 msckkqrsrk hsvnekcnmk iehyfspvsk eqqnncstsl mrmesrgdpr attntqaqrf
       61 hspkknpedq tmpqnrtiyv tlkvnhrrnq dmklklthse nsslymalnt lqavrkeiet
      121 hqgqemlvrg tegikeyinl gmplscfpeg gqvvitfsqs kskqkednhi fgrqdkaste
      181 cvkfyihaig igkckrrivk cgklhkkgrk lcvyafkget ikdalckdgr flsflenddw
      241 klienndtil estqpvdele gryfqvevek rmvpsaaasq npesekrntc vlreqivaqy
      301 pslkreseki ienfkkkmkv kngetlfelh rttfgkvtkn sssikvvkll vrlsdsvgyl
      361 fwdsattgya tcfvfkglfi ltcrhvidsi vgdgiepskw atiigqcvrv tfgyeelkdk
      421 etnyffvepw feihneeldy avlklkengq qvpmelyngi tpvplsglih iighpygekk
      481 qidacavipq gqrakkcqer vqskkaespe yvhmytqrsf qkivhnpdvi tydtefffga
      541 sgspvfdskg slvamhaagf aytyqnetrs iiefgstmes illdikqrhk pwyeevfvnq
      601 qdvemmsded l
//
LOCUS       NP_001374581             939 aa            linear   PRI 17-APR-2023
DEFINITION  focal adhesion kinase 1 isoform 56 [Homo sapiens].
ACCESSION   NP_001374581
VERSION     NP_001374581.1
DBSOURCE    REFSEQ: accession NM_001387652.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 939)
  AUTHORS   Zhang J, Li W, Wang W, Chen Q, Xu Z, Deng M, Zhou L and He G.
  TITLE     Dual roles of FAK in tumor angiogenesis: A review focused on
            pericyte FAK
  JOURNAL   Eur J Pharmacol 947, 175694 (2023)
   PUBMED   36967077
  REMARK    GeneRIF: Dual roles of FAK in tumor angiogenesis: A review focused
            on pericyte FAK.
            Review article
REFERENCE   2  (residues 1 to 939)
  AUTHORS   Akhade VS, Liu T, Docking TR, Jiang J, Gopal A and Karsan A.
  TITLE     Control of focal adhesion kinase activation by RUNX1-regulated
            miRNAs in high-risk AML
  JOURNAL   Leukemia 37 (4), 776-787 (2023)
   PUBMED   36788336
  REMARK    GeneRIF: Control of focal adhesion kinase activation by
            RUNX1-regulated miRNAs in high-risk AML.
REFERENCE   3  (residues 1 to 939)
  AUTHORS   Zhang Y, He B, Zhang D, Zhang Y, Chen C, Zhang W, Yang S, Yao M,
            Cui G, Gu J, Wang T, Lin Z, Fan Y, Xiong Z and Hao Y.
  TITLE     FAK-mediated phosphorylation at Y464 regulates p85beta nuclear
            translocation to promote tumorigenesis of ccRCC by repressing RB1
            expression
  JOURNAL   Cell Rep 42 (3), 112188 (2023)
   PUBMED   36857183
  REMARK    GeneRIF: FAK-mediated phosphorylation at Y464 regulates p85beta
            nuclear translocation to promote tumorigenesis of ccRCC by
            repressing RB1 expression.
REFERENCE   4  (residues 1 to 939)
  AUTHORS   Zhang J, Gelman IH, Qu J and Hochwald SN.
  TITLE     Phosphohistidine signaling promotes FAK-RB1 interaction and growth
            factor-independent proliferation of esophageal squamous cell
            carcinoma
  JOURNAL   Oncogene 42 (6), 449-460 (2023)
   PUBMED   36513743
  REMARK    GeneRIF: Phosphohistidine signaling promotes FAK-RB1 interaction
            and growth factor-independent proliferation of esophageal squamous
            cell carcinoma.
REFERENCE   5  (residues 1 to 939)
  AUTHORS   Rizza S, Di Leo L, Pecorari C, Giglio P, Faienza F, Montagna C,
            Maiani E, Puglia M, Bosisio FM, Petersen TS, Lin L, Rissler V,
            Viloria JS, Luo Y, Papaleo E, De Zio D, Blagoev B and Filomeni G.
  TITLE     GSNOR deficiency promotes tumor growth via FAK1 S-nitrosylation
  JOURNAL   Cell Rep 42 (1), 111997 (2023)
   PUBMED   36656716
  REMARK    GeneRIF: GSNOR deficiency promotes tumor growth via FAK1
            S-nitrosylation.
REFERENCE   6  (residues 1 to 939)
  AUTHORS   Polte TR and Hanks SK.
  TITLE     Interaction between focal adhesion kinase and Crk-associated
            tyrosine kinase substrate p130Cas
  JOURNAL   Proc Natl Acad Sci U S A 92 (23), 10678-10682 (1995)
   PUBMED   7479864
REFERENCE   7  (residues 1 to 939)
  AUTHORS   Guinebault C, Payrastre B, Racaud-Sultan C, Mazarguil H, Breton M,
            Mauco G, Plantavid M and Chap H.
  TITLE     Integrin-dependent translocation of phosphoinositide 3-kinase to
            the cytoskeleton of thrombin-activated platelets involves specific
            interactions of p85 alpha with actin filaments and focal adhesion
            kinase
  JOURNAL   J Cell Biol 129 (3), 831-842 (1995)
   PUBMED   7537275
REFERENCE   8  (residues 1 to 939)
  AUTHORS   Calalb MB, Polte TR and Hanks SK.
  TITLE     Tyrosine phosphorylation of focal adhesion kinase at sites in the
            catalytic domain regulates kinase activity: a role for Src family
            kinases
  JOURNAL   Mol Cell Biol 15 (2), 954-963 (1995)
   PUBMED   7529876
REFERENCE   9  (residues 1 to 939)
  AUTHORS   Bergman M, Joukov V, Virtanen I and Alitalo K.
  TITLE     Overexpressed Csk tyrosine kinase is localized in focal adhesions,
            causes reorganization of alpha v beta 5 integrin, and interferes
            with HeLa cell spreading
  JOURNAL   Mol Cell Biol 15 (2), 711-722 (1995)
   PUBMED   7529872
REFERENCE   10 (residues 1 to 939)
  AUTHORS   Schaller MD, Hildebrand JD, Shannon JD, Fox JW, Vines RR and
            Parsons JT.
  TITLE     Autophosphorylation of the focal adhesion kinase, pp125FAK, directs
            SH2-dependent binding of pp60src
  JOURNAL   Mol Cell Biol 14 (3), 1680-1688 (1994)
   PUBMED   7509446
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC100860.2, AC105009.13,
            AC105235.7 and AC067931.16.
            
            Summary: This gene encodes a cytoplasmic protein tyrosine kinase
            which is found concentrated in the focal adhesions that form
            between cells growing in the presence of extracellular matrix
            constituents. The encoded protein is a member of the FAK subfamily
            of protein tyrosine kinases but lacks significant sequence
            similarity to kinases from other subfamilies. Activation of this
            gene may be an important early step in cell growth and
            intracellular signal transduction pathways triggered in response to
            certain neural peptides or to cell interactions with the
            extracellular matrix. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jun 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3336829.1,
                                           SRR14038196.1290641.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..939
                     /product="focal adhesion kinase 1 isoform 56"
                     /EC_number="2.7.10.2"
                     /note="focal adhesion kinase 1; FAK-related non-kinase
                     polypeptide; focal adhesion kinase-related nonkinase;
                     protein phosphatase 1 regulatory subunit 71; PTK2 protein
                     tyrosine kinase 2"
                     /calculated_mol_wt=106223
     Region          <9..145
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          141..251
                     /region_name="FERM_C_FAK1"
                     /note="FERM domain C-lobe of Focal Adhesion Kinase 1 and
                     2; cd13190"
                     /db_xref="CDD:270011"
     Site            order(149,169,171,178)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270011"
     Site            order(183,188..191,228,232,235..236)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Site            228..239
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Region          302..571
                     /region_name="PTKc_FAK"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Focal Adhesion Kinase; cd05056"
                     /db_xref="CDD:133187"
     Site            order(315..319,323,339,341,358,371,386..389,392..393,433,
                     437..438,440,451,468..472,481,515)
                     /site_type="active"
                     /db_xref="CDD:133187"
     Site            order(315..319,323,339,341,358,371,386..389,392..393,
                     437..438,440,451)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133187"
     Site            order(433,437,468..472,481,515)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133187"
     Site            450..474
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133187"
     Site            order(481..485,519,523,548)
                     /site_type="other"
                     /note="FERM domain interface [polypeptide binding]"
                     /db_xref="CDD:133187"
     Region          803..932
                     /region_name="Focal_AT"
                     /note="Focal adhesion targeting region; pfam03623"
                     /db_xref="CDD:427406"
     CDS             1..939
                     /gene="PTK2"
                     /gene_synonym="FADK; FADK 1; FAK; FAK1; FRNK; p125FAK;
                     pp125FAK; PPP1R71"
                     /coded_by="NM_001387652.1:330..3149"
                     /note="isoform 56 is encoded by transcript variant 126"
                     /db_xref="GeneID:5747"
                     /db_xref="HGNC:HGNC:9611"
                     /db_xref="MIM:600758"
ORIGIN      
        1 memllmsgye lrirylpkgf lnqftedkpt lnffyqqvks dymleiadqv dqeialklgc
       61 leirrsywem rgnalekksn yevlekdvgl krffpkslld svkaktlrkl iqqtfrqfan
      121 lnreesilkf feilspvyrf dkecfkcalg sswiisvela igpeegisyl tdkgcnpthl
      181 adftqvqtiq ysnsedkdrk gmlqlkiaga pepltvtaps ltiaenmadl idgycrlvng
      241 tsqsfiirpq kegeralpsi pklansekqg mrthavsvse tddyaeiide edtytmpstr
      301 dyeiqrerie lgrcigegqf gdvhqgiyms penpalavai ktcknctsds vrekflqeal
      361 tmrqfdhphi vkligviten pvwiimelct lgelrsflqv rkysldlasl ilyayqlsta
      421 layleskrfv hrdiaarnvl vssndcvklg dfglsrymed styykaskgk lpikwmapes
      481 infrrftsas dvwmfgvcmw eilmhgvkpf qgvknndvig riengerlpm ppncpptlys
      541 lmtkcwaydp srrprftelk aqlstileee kaqqeermrm esrrqatvsw dsggsdeapp
      601 kpsrpgypsp rssegfypsp qhmvqtnhyq vsgypgshgi tamagsiypg qaslldqtds
      661 wnhrpqeiam wqpnvedstv ldlrgigqvl pthlmeerli rqqqemeedq rwlekeerfl
      721 kpdvrlsrgs idredgslqg pignqhiyqp vgkpdpaapp kkpprpgapg hlgslaslss
      781 padsynegvk lqpqeisppp tanldrsndk vyenvtglvk aviemsskiq pappeeyvpm
      841 vkevglalrt llatvdetip llpasthrei emaqkllnsd lgelinkmkl aqqyvmtslq
      901 qeykkqmlta ahalavdakn lldvidqarl kmlgqtrph
//
LOCUS       NP_001358200            1586 aa            linear   PRI 17-APR-2023
DEFINITION  zinc finger protein GLI2 isoform 1 [Homo sapiens].
ACCESSION   NP_001358200 XP_024308562
VERSION     NP_001358200.1
DBSOURCE    REFSEQ: accession NM_001371271.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1586)
  AUTHORS   Zhang Y, Wu T, Wang Y, Chen Z, Chen J, Lu S and Xia W.
  TITLE     Reciprocal FGF19-GLI2 signaling induces epithelial-to-mesenchymal
            transition to promote lung squamous cell carcinoma metastasis
  JOURNAL   Cell Oncol (Dordr) 46 (2), 437-450 (2023)
   PUBMED   36598638
  REMARK    GeneRIF: Reciprocal FGF19-GLI2 signaling induces
            epithelial-to-mesenchymal transition to promote lung squamous cell
            carcinoma metastasis.
REFERENCE   2  (residues 1 to 1586)
  AUTHORS   Yang J, Wang J, Zhang Y, Huang W, Zhang S, Yin P and Tan W.
  TITLE     c-Jun phosphorylated by JNK is required for protecting Gli2 from
            proteasomal-ubiquitin degradation by PGE2-JNK signaling axis
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1870 (3), 119418 (2023)
   PUBMED   36581088
  REMARK    GeneRIF: c-Jun phosphorylated by JNK is required for protecting
            Gli2 from proteasomal-ubiquitin degradation by PGE2-JNK signaling
            axis.
REFERENCE   3  (residues 1 to 1586)
  AUTHORS   Zhang Y, Wang J, Zheng Y, Zhu T, Shen M and He P.
  TITLE     Glioma-Associated Oncogene Family Zinc Finger 2 (GLI2) Activates
            Wnt Signaling through Transcriptional Inhibition of Neuronal
            Precursor Cell-Expressed Developmentally Downregulated 4 (NEDD4L)
            to Promote Androgen-Induced Granulosa Cell Damage
  JOURNAL   Ann Clin Lab Sci 53 (1), 52-63 (2023)
   PUBMED   36889770
  REMARK    GeneRIF: Glioma-Associated Oncogene Family Zinc Finger 2 (GLI2)
            Activates Wnt Signaling through Transcriptional Inhibition of
            Neuronal Precursor Cell-Expressed Developmentally Downregulated 4
            (NEDD4L) to Promote Androgen-Induced Granulosa Cell Damage.
REFERENCE   4  (residues 1 to 1586)
  AUTHORS   Falduto GH, Pfeiffer A, Zhang Q, Yin Y, Metcalfe DD and Olivera A.
  TITLE     A Critical Function for the Transcription Factors GLI1 and GLI2 in
            the Proliferation and Survival of Human Mast Cells
  JOURNAL   Front Immunol 13, 841045 (2022)
   PUBMED   35251038
  REMARK    GeneRIF: A Critical Function for the Transcription Factors GLI1 and
            GLI2 in the Proliferation and Survival of Human Mast Cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1586)
  AUTHORS   Huang K, Zhang X, Hao Y, Feng R, Wang H, Shu Z, Li A and Du M.
  TITLE     Hypoxia Tumor Microenvironment Activates GLI2 through HIF-1alpha
            and TGF-beta2 to Promote Chemotherapy Resistance of Colorectal
            Cancer
  JOURNAL   Comput Math Methods Med 2022, 2032895 (2022)
   PUBMED   35186110
  REMARK    GeneRIF: Hypoxia Tumor Microenvironment Activates GLI2 through
            HIF-1alpha and TGF-beta2 to Promote Chemotherapy Resistance of
            Colorectal Cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1586)
  AUTHORS   Hui CC, Slusarski D, Platt KA, Holmgren R and Joyner AL.
  TITLE     Expression of three mouse homologs of the Drosophila segment
            polarity gene cubitus interruptus, Gli, Gli-2, and Gli-3, in
            ectoderm- and mesoderm-derived tissues suggests multiple roles
            during postimplantation development
  JOURNAL   Dev Biol 162 (2), 402-413 (1994)
   PUBMED   8150204
REFERENCE   7  (residues 1 to 1586)
  AUTHORS   Tanimura A, Teshima H, Fujisawa J and Yoshida M.
  TITLE     A new regulatory element that augments the Tax-dependent enhancer
            of human T-cell leukemia virus type 1 and cloning of cDNAs encoding
            its binding proteins
  JOURNAL   J Virol 67 (9), 5375-5382 (1993)
   PUBMED   8350401
REFERENCE   8  (residues 1 to 1586)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301702
REFERENCE   9  (residues 1 to 1586)
  AUTHORS   Ruppert JM, Kinzler KW, Wong AJ, Bigner SH, Kao FT, Law ML, Seuanez
            HN, O'Brien SJ and Vogelstein B.
  TITLE     The GLI-Kruppel family of human genes
  JOURNAL   Mol Cell Biol 8 (8), 3104-3113 (1988)
   PUBMED   2850480
REFERENCE   10 (residues 1 to 1586)
  AUTHORS   Kinzler KW, Ruppert JM, Bigner SH and Vogelstein B.
  TITLE     The GLI gene is a member of the Kruppel family of zinc finger
            proteins
  JOURNAL   Nature 332 (6162), 371-374 (1988)
   PUBMED   2832761
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC017033.5 and AC016764.8.
            On Jul 6, 2019 this sequence version replaced XP_024308562.1.
            
            Summary: This gene encodes a protein which belongs to the C2H2-type
            zinc finger protein subclass of the Gli family. Members of this
            subclass are characterized as transcription factors which bind DNA
            through zinc finger motifs. These motifs contain conserved H-C
            links. Gli family zinc finger proteins are mediators of Sonic
            hedgehog (Shh) signaling and they are implicated as potent
            oncogenes in the embryonal carcinoma cell. The protein encoded by
            this gene localizes to the cytoplasm and activates patched
            Drosophila homolog (PTCH) gene expression. It is also thought to
            play a role during embryogenesis. The encoded protein is associated
            with several phenotypes- Greig cephalopolysyndactyly syndrome,
            Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial
            polydactyly types A1 and B. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1003181.1,
                                           SRR14038193.3035953.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1586
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.2"
     Protein         1..1586
                     /product="zinc finger protein GLI2 isoform 1"
                     /note="tax-responsive element-2 holding protein;
                     GLI-Kruppel family member GLI2; glioma-associated oncogene
                     family zinc finger 2; tax helper protein 2; zinc finger
                     protein GLI2; tax-responsive element-25-bp sequence
                     binding protein; oncogene GLI2; tax helper protein 1; GLI
                     family zinc finger protein 2"
                     /calculated_mol_wt=167653
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P10070.4)"
     Site            149
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P10070.4)"
     Site            234
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P10070.4)"
     Site            236
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P10070.4)"
     Site            242
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P10070.4)"
     Region          342..389
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P10070.4)"
     Site            388
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by DYRK2.
                     /evidence=ECO:0000269|PubMed:18455992; propagated from
                     UniProtKB/Swiss-Prot (P10070.4)"
     Site            order(482,484,486,488..489,492..493,496,512,514,518..519,
                     522..523,526,542,544,546,548..549,552..553,557)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          <499..589
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          505..527
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          535..558
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          566..587
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          577..636
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P10070.4)"
     Region          650..716
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P10070.4)"
     Site            725
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q0VGT2; propagated from
                     UniProtKB/Swiss-Prot (P10070.4)"
     Region          742..879
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P10070.4)"
     Site            757
                     /site_type="acetylation"
                     /note="N6-acetyllysine, by EP300.
                     /evidence=ECO:0000269|PubMed:23762415; propagated from
                     UniProtKB/Swiss-Prot (P10070.4)"
     Region          <912..1389
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          925..1030
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P10070.4)"
     Site            1011
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by DYRK2.
                     /evidence=ECO:0000269|PubMed:18455992; propagated from
                     UniProtKB/Swiss-Prot (P10070.4)"
     Region          1182..1215
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P10070.4)"
     Region          1421..1441
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P10070.4)"
     Region          1469..1498
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P10070.4)"
     CDS             1..1586
                     /gene="GLI2"
                     /gene_synonym="CJS; HPE9; PHS2; THP1; THP2"
                     /coded_by="NM_001371271.1:449..5209"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS33283.1"
                     /db_xref="GeneID:2736"
                     /db_xref="HGNC:HGNC:4318"
                     /db_xref="MIM:165230"
ORIGIN      
        1 metsasatas ekqeaksgil eaagfpdpgk kasplvvaaa aaaavaaqgv pqhllppfha
       61 plpidmrhqe gryhyephsv hgvhgppals gspvisdisl irlsphpagp gespfnaphp
      121 yvnphmehyl rsvhssptls misaarglsp advaqehlke rglfglpapg ttpsdyyhqm
      181 tlvaghpapy gdllmqsgga asaphlhdyl npvdvsrfss prvtprlsrk ralsisplsd
      241 asldlqrmir tspnslvayi nnsrsssaas gsyghlsaga lspaftfphp inpvayqqil
      301 sqqrglgsaf ghtppliqps ptflaqqpma ltsinatptq lssssnclsd tnqnkqsses
      361 avsstvnpva ihkrskvkte peglrpaspl altqgqvsgh gscgcalpls qeqladlked
      421 ldrddckqea evviyetnch wedctkeydt qeqlvhhinn ehihgekkef vcrwqactre
      481 qkpfkaqyml vvhmrrhtge kphkctfegc skaysrlenl kthlrshtge kpyvcehegc
      541 nkafsnasdr akhqnrthsn ekpyickipg ctkrytdpss lrkhvktvhg pdahvtkkqr
      601 ndvhlrtpll kengdseagt epggpestea sstsqavedc lhvraiktes sglcqsspga
      661 qsscssepsp lgsapnndsg vempgtgpgs lgdltalddt ppgadtsala apsagglqlr
      721 khmttmhrfe qlkkeklksl kdscswagpt phtrntklpp lpgsgsilen fsgsggggpa
      781 gllpnprlse lsasevtmls qlqerrdsst stvssaytvs rrssgispyf ssrrsseasp
      841 lgagrphnas sadsydpist dasrrsseas qcsggsglln ltpaqqyslr akyaaatggp
      901 pptplpgler mslrtrlall dapertlpag cprplgprrg sdgptyghgh agaapafphe
      961 apgggarras dpvrrpdals lprvqrfhst hnvnpgplpp cadrrglrlq shpstdggla
     1021 rgaysprpps isenvameav aagvdgagpe adlglpeddl vlpddvvqyi kahasgalde
     1081 gtgqvyptes tgfsdnprlp spglhgqrrm vaadsnvgps apmlggcqlg fgapsslnkn
     1141 nmpvqwnevs sgtvdalasq vkpppfpqgn lavvqqkpaf gqypgyspqg lqaspgglds
     1201 tqphlqprsg apsqgiprvn ymqqlrqpva gsqcpgmttt msphacygqv hpqlspstis
     1261 galnqfpqsc snmpakpghl ghpqqtevap dpttmgnrhr elgvpdsala gvppphpvqs
     1321 ypqqshhlaa smsqegyhqv psllparqpg fmepqtgpmg vatagfglvq prpplepspt
     1381 grhrgvravq qqlayaratg hamaampssq etaeavpkga mgnmgsvppq pppqdaggap
     1441 dhsmlyyygq ihmyeqdggl enlgscqvmr sqppqpqacq dsiqpqplps pgvnqvsstv
     1501 dsqlleapqi dfdaimddgd hsslfsgals psllhslsqn ssrlttprns ltlpsipagi
     1561 snmavgdmss mltslaeesk flnmmt
//
LOCUS       NP_001129212             360 aa            linear   PRI 29-DEC-2022
DEFINITION  calcium/calmodulin-dependent protein kinase type 1B isoform b [Homo
            sapiens].
ACCESSION   NP_001129212
VERSION     NP_001129212.1
DBSOURCE    REFSEQ: accession NM_001135740.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 360)
  AUTHORS   Cho YA, Choi S, Park S, Park CK and Ha SY.
  TITLE     Expression of Pregnancy Up-regulated Non-ubiquitous Calmodulin
            Kinase (PNCK) in Hepatocellular Carcinoma
  JOURNAL   Cancer Genomics Proteomics 17 (6), 747-755 (2020)
   PUBMED   33099476
  REMARK    GeneRIF: Expression of Pregnancy Up-regulated Non-ubiquitous
            Calmodulin Kinase (PNCK) in Hepatocellular Carcinoma.
REFERENCE   2  (residues 1 to 360)
  AUTHORS   Deb TB, Zuo AH, Barndt RJ, Sengupta S, Jankovic R and Johnson MD.
  TITLE     Pnck overexpression in HER-2 gene-amplified breast cancer causes
            Trastuzumab resistance through a paradoxical PTEN-mediated process
  JOURNAL   Breast Cancer Res Treat 150 (2), 347-361 (2015)
   PUBMED   25773930
  REMARK    GeneRIF: Pnck may be a marker of Trastuzumab resistance and
            possibly a therapeutic target in breast cancer.
REFERENCE   3  (residues 1 to 360)
  AUTHORS   Wu S, Lv Z, Wang Y, Sun L, Jiang Z, Xu C, Zhao J, Sun X, Li X, Hu
            L, Tang A, Gui Y, Zhou F, Cai Z and Wang R.
  TITLE     Increased expression of pregnancy up-regulated non-ubiquitous
            calmodulin kinase is associated with poor prognosis in clear cell
            renal cell carcinoma
  JOURNAL   PLoS One 8 (4), e59936 (2013)
   PUBMED   23634203
  REMARK    GeneRIF: the relationship between PNCK and prognosis in clear cell
            renal cell carcinoma
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 360)
  AUTHORS   Deb TB, Zuo AH, Wang Y, Barndt RJ, Cheema AK, Sengupta S, Coticchia
            CM and Johnson MD.
  TITLE     Pnck induces ligand-independent EGFR degradation by probable
            perturbation of the Hsp90 chaperone complex
  JOURNAL   Am J Physiol Cell Physiol 300 (5), C1139-C1154 (2011)
   PUBMED   21325639
  REMARK    GeneRIF: Pnck induces epidermal growth factor receptor degradation,
            most likely through perturbation of Hsp90 chaperone activity due to
            Hsp90 phosphorylation.  Epidermal growth factor receptor
            degradation is coupled to proteasomal degradation of Pnck.
REFERENCE   5  (residues 1 to 360)
  AUTHORS   Deb TB, Coticchia CM, Barndt R, Zuo H, Dickson RB and Johnson MD.
  TITLE     Pregnancy-upregulated nonubiquitous calmodulin kinase induces
            ligand-independent EGFR degradation
  JOURNAL   Am J Physiol Cell Physiol 295 (2), C365-C377 (2008)
   PUBMED   18562482
  REMARK    GeneRIF: Pnck induces ligand-independent EGFR degradation, and it
            may represent an attractive therapeutic target in EGFR-regulated
            oncogenesis.
REFERENCE   6  (residues 1 to 360)
  AUTHORS   Gardner HP, Ha SI, Reynolds C and Chodosh LA.
  TITLE     The caM kinase, Pnck, is spatially and temporally regulated during
            murine mammary gland development and may identify an epithelial
            cell subtype involved in breast cancer
  JOURNAL   Cancer Res 60 (19), 5571-5577 (2000)
   PUBMED   11034105
REFERENCE   7  (residues 1 to 360)
  AUTHORS   Gardner HP, Rajan JV, Ha SI, Copeland NG, Gilbert DJ, Jenkins NA,
            Marquis ST and Chodosh LA.
  TITLE     Cloning, characterization, and chromosomal localization of Pnck, a
            Ca(2+)/calmodulin-dependent protein kinase
  JOURNAL   Genomics 63 (2), 279-288 (2000)
   PUBMED   10673339
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK303746.1 and CF890832.1.
            
            Summary: PNCK is a member of the calcium/calmodulin-dependent
            protein kinase family of protein serine/threonine kinases (see
            CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed
            10673339]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and 5'
            coding region, compared to variant 1. The resulting isoform (b) is
            shorter and has a distinct N-terminus, compared to isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK303746.1, SRR9304719.195182.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..360
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..360
                     /product="calcium/calmodulin-dependent protein kinase type
                     1B isoform b"
                     /EC_number="2.7.11.17"
                     /note="pregnancy upregulated non-ubiquitously expressed
                     CaM kinase; calcium/calmodulin-dependent protein kinase
                     type 1B; caMKI-beta; caM-KI beta; caM kinase IB; caM
                     kinase I beta; pregnancy up-regulated
                     non-ubiquitously-expressed CaM kinase"
                     /calculated_mol_wt=40225
     Region          28..304
                     /region_name="STKc_CaMKI_beta"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Calcium/calmodulin-dependent protein kinase Type I beta;
                     cd14169"
                     /db_xref="CDD:271071"
     Site            order(38..42,46,59,61,91,107..110,114,116,152..153,155,
                     157..158,160,173..174,177,190..194,196)
                     /site_type="active"
                     /db_xref="CDD:271071"
     Site            order(38..41,46,59,61,91,107..110,114,157..158,160,
                     173..174)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271071"
     Site            order(42,114,116,152..153,155,157,177,190..194,196)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271071"
     Site            173..194
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271071"
     CDS             1..360
                     /gene="PNCK"
                     /gene_synonym="BSTK3; CaMK1b"
                     /coded_by="NM_001135740.2:19..1101"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS48189.1"
                     /db_xref="GeneID:139728"
                     /db_xref="HGNC:HGNC:13415"
                     /db_xref="MIM:300680"
ORIGIN      
        1 mwrrvcggla grrpsgdmll lkkhtediss vyeirerlgs gafsevvlaq ergsahlval
       61 kcipkkalrg kealveneia vlrrishpni valedvhesp shlylamelv tggelfdrim
      121 ergsytekda shlvgqvlga vsylhslgiv hrdlkpenll yatpfedski mvsdfglski
      181 qagnmlgtac gtpgyvapel leqkpygkav dvwalgvisy illcgyppfy desdpelfsq
      241 ilrasyefds pfwddisesa kdfirhller dpqkrftcqq alrhlwisgd tafdrdilgs
      301 vseqirknfa rthwkrafna tsflrhirkl gqipegegas eqgmarhshs glragqppkw
//
LOCUS       NP_001350106             210 aa            linear   PRI 11-MAR-2023
DEFINITION  transmembrane protein 68 isoform 5 [Homo sapiens].
ACCESSION   NP_001350106 XP_016868529
VERSION     NP_001350106.1
DBSOURCE    REFSEQ: accession NM_001363177.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 210)
  AUTHORS   Wang Y, Zeng F, Zhao Z, He L, He X, Pang H, Huang F and Chang P.
  TITLE     Transmembrane Protein 68 Functions as an MGAT and DGAT Enzyme for
            Triacylglycerol Biosynthesis
  JOURNAL   Int J Mol Sci 24 (3), 2012 (2023)
   PUBMED   36768334
  REMARK    GeneRIF: Transmembrane Protein 68 Functions as an MGAT and DGAT
            Enzyme for Triacylglycerol Biosynthesis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 210)
  AUTHORS   Chang P, Heier C, Qin W, Han L, Huang F and Sun Q.
  TITLE     Molecular identification of transmembrane protein 68 as an
            endoplasmic reticulum-anchored and brain-specific protein
  JOURNAL   PLoS One 12 (5), e0176980 (2017)
   PUBMED   28472192
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 210)
  AUTHORS   Zhan M, Chen G, Pan CM, Gu ZH, Zhao SX, Liu W, Wang HN, Ye XP, Xie
            HJ, Yu SS, Liang J, Gao GQ, Yuan GY, Zhang XM, Zuo CL, Su B, Huang
            W, Ning G, Chen SJ, Chen JL and Song HD.
  CONSRTM   China Consortium for Genetics of Autoimmune Thyroid Disease
  TITLE     Genome-wide association study identifies a novel susceptibility
            gene for serum TSH levels in Chinese populations
  JOURNAL   Hum Mol Genet 23 (20), 5505-5517 (2014)
   PUBMED   24852370
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA121422.1, AK056932.1, AL832935.1, AC100817.5 and DB370750.1.
            On May 10, 2018 this sequence version replaced XP_016868529.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.215928.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..210
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     Protein         1..210
                     /product="transmembrane protein 68 isoform 5"
                     /calculated_mol_wt=23878
     Region          1..196
                     /region_name="LPLAT_MGAT-like"
                     /note="Lysophospholipid Acyltransferases (LPLATs) of
                     Glycerophospholipid Biosynthesis: MGAT-like; cd07987"
                     /db_xref="CDD:153249"
     Site            order(16,19,22,37..40,85..87)
                     /site_type="active"
                     /note="putative acyl-acceptor binding pocket [active]"
                     /db_xref="CDD:153249"
     CDS             1..210
                     /gene="TMEM68"
                     /coded_by="NM_001363177.1:173..805"
                     /note="isoform 5 is encoded by transcript variant 6"
                     /db_xref="GeneID:137695"
                     /db_xref="HGNC:HGNC:26510"
ORIGIN      
        1 mekipedgpa liifyhgaip idfyyfmaki fihkgrtcrv vadhfvfkip gfsllldvfc
       61 alhgprekcv eilrsghlla ispggvreal isdetynivw ghrrgfaqva idakvpiipm
      121 ftqniregfr slggtrlfrw lyekfrypfa pmyggfpvkl rtylgdpipy dpqitaeela
      181 ektknavqal idkhqripgn imsallerfh
//
LOCUS       XP_011529042             900 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform
            X21 [Homo sapiens].
ACCESSION   XP_011529042
VERSION     XP_011529042.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011530740.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..900
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..900
                     /product="serine/threonine-protein phosphatase 6
                     regulatory subunit 2 isoform X21"
                     /calculated_mol_wt=96845
     Region          60..465
                     /region_name="SAPS"
                     /note="SIT4 phosphatase-associated protein; pfam04499"
                     /db_xref="CDD:398279"
     Region          <634..895
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..900
                     /gene="PPP6R2"
                     /gene_synonym="KIAA0685; PP6R2; SAP190; SAPS2"
                     /coded_by="XM_011530740.3:70..2772"
                     /db_xref="GeneID:9701"
                     /db_xref="HGNC:HGNC:19253"
                     /db_xref="MIM:610877"
ORIGIN      
        1 mlglcpfryp ntacelltcd vpqisdrlgg desllsllyd fldhepplnp llasffskti
       61 gnliarkteq vitflkkkdk fislvlkhig tsalmdlllr lvscvepagl rqdvlhwlne
      121 ekviqrlvel ihpsqdedrq snasqtlcdi vrlgrdqgsq lqealepdpl ltalesrqdc
      181 veqllknmfd gdrtesclvs gtqvlltlle trrvgteglv dsfsqglers yavsssvlhg
      241 ieprlkdfhq lllnppkkka ilttigvlee plgnarlhga rlmaallhtn tpsinqelcr
      301 lntmdllldl ffkytwnnfl hfqvelciaa ilshaareer teasgsesrv epphengnrs
      361 letpqpaasl pdntmvthlf qkcclvqril eaweandhtq aaggmrrgnm ghltrianav
      421 vqnlergpvq thisevirgl padcrgrwes fveetltetn rrntvdlvst hhlhsssede
      481 diegafpnel slqqafsdyq iqqmtanfvd qfgfndeefa dqddninapf driaeinfni
      541 dadedspsaa lfeaccsdri qpfdddeded iwedsdtrca arvmarprfg aphasescsk
      601 ngperggqdg kasleahrda pgagappapg kkeappvegd seagamwtav fdepanstpt
      661 apgvvrdvgs svwaagtsap eekgwakftd fqpfccsesg prcsspvdte cshaegsrsq
      721 gpekasqasy favspaspca wnvcvtrkap llasdssssg gshsedgdqk aasamdavsr
      781 gpgreapplp tvarteeavg rvgcadsrll spacpapkev taapavavpp eatvaittal
      841 skagpaiptp avssalavav plgpimavta apamvatlgt vtkdgktdap pegaalngpv
//
LOCUS       XP_047273843             238 aa            linear   PRI 20-MAR-2023
DEFINITION  CCR4-NOT transcription complex subunit 8 isoform X2 [Homo sapiens].
ACCESSION   XP_047273843
VERSION     XP_047273843.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417887.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..238
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..238
                     /product="CCR4-NOT transcription complex subunit 8 isoform
                     X2"
                     /calculated_mol_wt=27284
     Region          1..209
                     /region_name="CAF1"
                     /note="CAF1 family ribonuclease; cl23804"
                     /db_xref="CDD:451554"
     CDS             1..238
                     /gene="CNOT8"
                     /gene_synonym="CAF1; Caf1b; CALIF; hCAF1; POP2"
                     /coded_by="XM_047417887.1:1153..1869"
                     /db_xref="GeneID:9337"
                     /db_xref="HGNC:HGNC:9207"
                     /db_xref="MIM:603731"
ORIGIN      
        1 mpaalvensq vicevwasnl eeemrkirei vlsysyiamd tefpgvvvrp igefrssidy
       61 qyqllrcnvd llkiiqlglt ftnekgeyps gintwqfnfk fnltgydfgy mvklltdsrl
      121 peeeheffhi lnlffpsiyd vkylmksckn lkgglqevad qldlqrigrq hqagsdsllt
      181 gmaffrmkel ffedsiddak ycgrlyglgt gvaqkqnedv dsaqekmsil aiinnmqq
//
LOCUS       XP_054204003             412 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 35 member G2 isoform X1 [Homo sapiens].
ACCESSION   XP_054204003
VERSION     XP_054204003.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348028.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..412
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..412
                     /product="solute carrier family 35 member G2 isoform X1"
                     /calculated_mol_wt=46319
     CDS             1..412
                     /gene="SLC35G2"
                     /gene_synonym="TMEM22"
                     /coded_by="XM_054348028.1:968..2206"
                     /db_xref="GeneID:80723"
                     /db_xref="HGNC:HGNC:28480"
                     /db_xref="MIM:617812"
ORIGIN      
        1 mdtspsrkyp vkkrvkihpn tvmvkytshy pqpgddgyee inegygnfme enpkkgllse
       61 mkkkgraffg tmdtlpppte dpmineigqf qsfaeknifq srkmwivlfg salahgcval
      121 itrlvsdrsk vpslelifir svfqvlsvlv vcyyqeapfg psgyrlrlff ygvcnvisit
      181 caytsfsivp psngttmwra tttvfsaila fllvdekmay vdmatvvcsi lgvclvmipn
      241 ivdednslln awkeafgytm tvmaglttal smivyrsike kismwtalft fgwtgtiwgi
      301 stmfilqepi ipldgetwsy liaicvcsta aflgvyyald kfhpalvstv qhleivvamv
      361 lqllvlhifp siydvfggvi imisvfvlag yklywrnlrr qdyqeildsp ik
//
LOCUS       NP_036270                560 aa            linear   PRI 05-APR-2023
DEFINITION  protein AATF isoform 1 [Homo sapiens].
ACCESSION   NP_036270
VERSION     NP_036270.1
DBSOURCE    REFSEQ: accession NM_012138.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 560)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   2  (residues 1 to 560)
  AUTHORS   Catena V, Bruno T, Iezzi S, Matteoni S, Salis A, Sorino C, Damonte
            G and Fanciulli M.
  TITLE     CK2-mediated phosphorylation of Che-1/AATF is required for its
            pro-proliferative activity
  JOURNAL   J Exp Clin Cancer Res 40 (1), 232 (2021)
   PUBMED   34266450
  REMARK    GeneRIF: CK2-mediated phosphorylation of Che-1/AATF is required for
            its pro-proliferative activity.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 560)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 560)
  AUTHORS   Sorino C, Catena V, Bruno T, De Nicola F, Scalera S, Bossi G,
            Fabretti F, Mano M, De Smaele E, Fanciulli M and Iezzi S.
  TITLE     Che-1/AATF binds to RNA polymerase I machinery and sustains
            ribosomal RNA gene transcription
  JOURNAL   Nucleic Acids Res 48 (11), 5891-5906 (2020)
   PUBMED   32421830
  REMARK    GeneRIF: Che-1/AATF binds to RNA polymerase I machinery and
            sustains ribosomal RNA gene transcription.
REFERENCE   5  (residues 1 to 560)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 560)
  AUTHORS   Salehi AH, Xanthoudakis S and Barker PA.
  TITLE     NRAGE, a p75 neurotrophin receptor-interacting protein, induces
            caspase activation and cell death through a JNK-dependent
            mitochondrial pathway
  JOURNAL   J Biol Chem 277 (50), 48043-48050 (2002)
   PUBMED   12376548
REFERENCE   7  (residues 1 to 560)
  AUTHORS   Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M and
            Lamond AI.
  TITLE     Directed proteomic analysis of the human nucleolus
  JOURNAL   Curr Biol 12 (1), 1-11 (2002)
   PUBMED   11790298
REFERENCE   8  (residues 1 to 560)
  AUTHORS   Lindfors K, Halttunen T, Huotari P, Nupponen N, Vihinen M,
            Visakorpi T, Maki M and Kainulainen H.
  TITLE     Identification of novel transcription factor-like gene from human
            intestinal cells
  JOURNAL   Biochem Biophys Res Commun 276 (2), 660-666 (2000)
   PUBMED   11027528
REFERENCE   9  (residues 1 to 560)
  AUTHORS   Fanciulli M, Bruno T, Di Padova M, De Angelis R, Iezzi S, Iacobini
            C, Floridi A and Passananti C.
  TITLE     Identification of a novel partner of RNA polymerase II subunit 11,
            Che-1, which interacts with and affects the growth suppression
            function of Rb
  JOURNAL   FASEB J 14 (7), 904-912 (2000)
   PUBMED   10783144
REFERENCE   10 (residues 1 to 560)
  AUTHORS   Page G, Lodige I, Kogel D and Scheidtmann KH.
  TITLE     AATF, a novel transcription factor that interacts with Dlk/ZIP
            kinase and interferes with apoptosis
  JOURNAL   FEBS Lett 462 (1-2), 187-191 (1999)
   PUBMED   10580117
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK057229.1, AF083208.1 and
            BC000591.2.
            
            Summary: The protein encoded by this gene was identified on the
            basis of its interaction with MAP3K12/DLK, a protein kinase known
            to be involved in the induction of cell apoptosis. This gene
            product contains a leucine zipper, which is a characteristic motif
            of transcription factors, and was shown to exhibit strong
            transactivation activity when fused to Gal4 DNA binding domain.
            Overexpression of this gene interfered with MAP3K12 induced
            apoptosis. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.705445.1, AK057229.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000619387.5/ ENSP00000477848.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..560
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     Protein         1..560
                     /product="protein AATF isoform 1"
                     /note="protein AATF; rb-binding protein Che-1"
                     /calculated_mol_wt=63002
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q9NY61.1)"
     Site            61
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NY61.1)"
     Site            63
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NY61.1)"
     Region          76..208
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NY61.1)"
     Site            150
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NY61.1)"
     Site            155
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NY61.1)"
     Site            203
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9NY61.1)"
     Region          222..373
                     /region_name="AATF-Che1"
                     /note="Apoptosis antagonizing transcription factor;
                     pfam13339"
                     /db_xref="CDD:433129"
     Region          273..315
                     /region_name="POLR2J binding"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NY61.1)"
     Site            273
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NY61.1)"
     Region          309..333
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NY61.1)"
     Region          316..372
                     /region_name="RB1 binding"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NY61.1)"
     Site            316
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9NY61.1)"
     Site            320
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9NY61.1)"
     Site            321
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9NY61.1)"
     Region          373..472
                     /region_name="RB1 and SP1 binding"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NY61.1)"
     Region          464..548
                     /region_name="TRAUB"
                     /note="Apoptosis-antagonizing transcription factor,
                     C-terminal; pfam08164"
                     /db_xref="CDD:429853"
     CDS             1..560
                     /gene="AATF"
                     /gene_synonym="BFR2; CHE-1; CHE1; DED"
                     /coded_by="NM_012138.4:173..1855"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS32632.1"
                     /db_xref="GeneID:26574"
                     /db_xref="HGNC:HGNC:19235"
                     /db_xref="MIM:608463"
ORIGIN      
        1 magpqplalq leqllnprps eadpeadpee ataarvidrf degedgegdf lvvgsirkla
       61 saslldtdkr ycgkttsrka wnedhweqtl pgssdeeisd eegsgdedse glgleeyded
      121 dlgaaeeqec gdhreskksr shsaktpgfs vqsisdfekf tkgmddlgss eeeedeesgm
      181 eegddaedsq geseedragd rnseddgvvm tfssvkvsee vekgravknq ialwdqlleg
      241 riklqkallt tnqlpqpdvf plfkdkggpe fssalknshk alkallrslv glqeellfqy
      301 pdtrylvdgt kpnagseeis seddelveek kqqrrrvpak rklemedyps fmakrfadft
      361 vyrnrtlqkw hdktklasgk lgkgfgafer siltqidhil mdkerllrrt qtkrsvyrvl
      421 gkpepaaqpv peslpgepei lpqapanahl kdldeeifdd ddfyhqllre lierktssld
      481 pndqvamgrq wlaiqklrsk ihkkvdrkas kgrklrfhvl skllsfmapi dhttmnddar
      541 telyrslfgq lhppdeghgd
//
LOCUS       NP_001985                661 aa            linear   PRI 20-APR-2021
DEFINITION  coagulation factor XIII B chain precursor [Homo sapiens].
ACCESSION   NP_001985
VERSION     NP_001985.2
DBSOURCE    REFSEQ: accession NM_001994.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 661)
  AUTHORS   Memtsas VP, Arachchillage DRJ and Gorog DA.
  TITLE     Role, Laboratory Assessment and Clinical Relevance of Fibrin,
            Factor XIII and Endogenous Fibrinolysis in Arterial and Venous
            Thrombosis
  JOURNAL   Int J Mol Sci 22 (3), 1472 (2021)
   PUBMED   33540604
  REMARK    GeneRIF: Role, Laboratory Assessment and Clinical Relevance of
            Fibrin, Factor XIII and Endogenous Fibrinolysis in Arterial and
            Venous Thrombosis.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 661)
  AUTHORS   Akhter MS, Singh S, Yadegari H, Ivaskevicius V, Oldenburg J and
            Biswas A.
  TITLE     Exploring the structural similarity yet functional distinction
            between coagulation factor XIII-B and complement factor H sushi
            domains
  JOURNAL   J Thromb Thrombolysis 48 (1), 95-102 (2019)
   PUBMED   30915671
  REMARK    GeneRIF: investigations show no effect of FXIII-B subunit on the
            rate of complement activation
REFERENCE   3  (residues 1 to 661)
  AUTHORS   Balogh L, Katona E, Mezei ZA, Kallai J, Gindele R, Edes I, Muszbek
            L, Papp Z and Bereczky Z.
  TITLE     Effect of factor XIII levels and polymorphisms on the risk of
            myocardial infarction in young patients
  JOURNAL   Mol Cell Biochem 448 (1-2), 199-209 (2018)
   PUBMED   29484525
  REMARK    GeneRIF: Effect of factor XIII levels and polymorphisms on the risk
            of myocardial infarction in young patients
REFERENCE   4  (residues 1 to 661)
  AUTHORS   Mezei ZA, Katona E, Kallai J, Bereczky Z, Somodi L, Molnar E,
            Kovacs B, Miklos T, Ajzner E and Muszbek L.
  TITLE     Factor XIII levels and factor XIII B subunit polymorphisms in
            patients with venous thromboembolism
  JOURNAL   Thromb Res 158, 93-97 (2017)
   PUBMED   28865246
  REMARK    GeneRIF: In VTE patients the changes of FXIII level and their
            effect on the risk of VTE show considerable sex-specific
            differences. Intron K polymorphism results in decreased FXIII
            levels, but does not influence the risk of VTE.
REFERENCE   5  (residues 1 to 661)
  AUTHORS   Mezei ZA, Katona E, Kallai J, Bereczky Z, Molnar E, Kovacs B,
            Ajzner E, Bagoly Z, Miklos T and Muszbek L.
  TITLE     Regulation of plasma factor XIII levels in healthy individuals; a
            major impact by subunit B intron K c.1952+144 C>G polymorphism
  JOURNAL   Thromb Res 148, 101-106 (2016)
   PUBMED   27821352
  REMARK    GeneRIF: The results suggest that plasma FXIII levels are subjected
            to multifactorial regulation with age, fibrinogen level and FXIII-B
            intron K polymorphism being the major determinants. Their effect on
            FXIII levels might influence the risk of thrombotic diseases.
REFERENCE   6  (residues 1 to 661)
  AUTHORS   Murdock PJ, Owens DL, Chitolie A, Hutton RA and Lee CA.
  TITLE     Development and evaluation of ELISAs for factor XIIIA and XIIIB
            subunits in plasma
  JOURNAL   Thromb Res 67 (1), 73-79 (1992)
   PUBMED   1359667
REFERENCE   7  (residues 1 to 661)
  AUTHORS   Nishimura DY, Leysens NJ and Murray JC.
  TITLE     A dinucleotide repeat for the D1S53 locus
  JOURNAL   Nucleic Acids Res 20 (5), 1167 (1992)
   PUBMED   1549502
REFERENCE   8  (residues 1 to 661)
  AUTHORS   Bottenus RE, Ichinose A and Davie EW.
  TITLE     Nucleotide sequence of the gene for the b subunit of human factor
            XIII
  JOURNAL   Biochemistry 29 (51), 11195-11209 (1990)
   PUBMED   2271707
REFERENCE   9  (residues 1 to 661)
  AUTHORS   Grundmann U, Nerlich C, Rein T and Zettlmeissl G.
  TITLE     Complete cDNA sequence encoding the B subunit of human factor XIII
  JOURNAL   Nucleic Acids Res 18 (9), 2817-2818 (1990)
   PUBMED   2339067
REFERENCE   10 (residues 1 to 661)
  AUTHORS   Saito M, Asakura H, Yoshida T, Ito K, Okafuji K, Yoshida T and
            Matsuda T.
  TITLE     A familial factor XIII subunit B deficiency
  JOURNAL   Br J Haematol 74 (3), 290-294 (1990)
   PUBMED   2334637
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX510295.1, AK290560.1,
            AL353809.20, M14057.1 and CB157213.1.
            On Jul 20, 2006 this sequence version replaced NP_001985.1.
            
            Summary: This gene encodes coagulation factor XIII B subunit.
            Coagulation factor XIII is the last zymogen to become activated in
            the blood coagulation cascade. Plasma factor XIII is a
            heterotetramer composed of 2 A subunits and 2 B subunits. The A
            subunits have catalytic function, and the B subunits do not have
            enzymatic activity and may serve as a plasma carrier molecules.
            Platelet factor XIII is comprised only of 2 A subunits, which are
            identical to those of plasma origin. Upon activation by the
            cleavage of the activation peptide by thrombin and in the presence
            of calcium ion, the plasma factor XIII dissociates its B subunits
            and yields the same active enzyme, factor XIIIa, as platelet factor
            XIII. This enzyme acts as a transglutaminase to catalyze the
            formation of gamma-glutamyl-epsilon-lysine crosslinking between
            fibrin molecules, thus stabilizing the fibrin clot. Factor XIII
            deficiency is classified into two categories: type I deficiency,
            characterized by the lack of both the A and B subunits; and type II
            deficiency, characterized by the lack of the A subunit alone.
            These defects can result in a lifelong bleeding tendency, defective
            wound healing, and habitual abortion. [provided by RefSeq, Jul
            2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK290560.1, M14057.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367412.2/ ENSP00000356382.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..661
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.3"
     Protein         1..661
                     /product="coagulation factor XIII B chain precursor"
                     /EC_number="2.3.2.13"
                     /note="TGase; transglutaminase B chain; fibrin-stabilizing
                     factor B subunit; protein-glutamine
                     gamma-glutamyltransferase B chain; coagulation factor
                     XIII, B polypeptide"
                     /calculated_mol_wt=73207
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2322
     mat_peptide     21..661
                     /product="coagulation factor XIII B chain"
                     /calculated_mol_wt=73207
     Region          <28..126
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     Region          91..328
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     Region          230..451
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     Region          524..578
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(534,554)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     CDS             1..661
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /coded_by="NM_001994.3:38..2023"
                     /db_xref="CCDS:CCDS1388.1"
                     /db_xref="GeneID:2165"
                     /db_xref="HGNC:HGNC:3534"
                     /db_xref="MIM:134580"
ORIGIN      
        1 mrlknltfii iliisgelya eekpcgfphv engriaqyyy tfksfyfpms idkklsffcl
       61 agyttesgrq eeqttctteg wspeprcfkk ctkpdlsngy isdvkllyki qenmrygcas
      121 gykttggkde evvqclsdgw ssqptcrkeh etclapelyn gnysttqktf kvkdkvqyec
      181 atgyytaggk kteeveclty gwsltpkctk lkcsslrlie ngyfhpvkqt yeegdvvqff
      241 chenyylsgs dliqcynfgw ypespvcegr rnrcpppplp inskiqthst tyrhgeivhi
      301 ecelnfeihg saeircedgk wteppkcieg qekvaceepp fiengaanlh skiyyngdkv
      361 tyacksgyll hgsneitcnr gkwtlppecv ennenckhpp vvmngavadg ilasyatgss
      421 veyrcneyyl lrgskisrce qgkwssppvc lepctvnvdy mnrnniemkw kyegkvlhgd
      481 lidfvckqgy dlspltplse lsvqcnrgev kyplctrkes kgmctsppli khgviisstv
      541 dtyengssve yrcfdhhfle gsreaycldg mwttpplcle pctlsfteme knnlllkwdf
      601 dnrphilhge yieficrgdt ypaelyitgs ilrmqcdrgq lkyprciprq stlsyqeplr
      661 t
//
LOCUS       NP_001129297             136 aa            linear   PRI 18-DEC-2022
DEFINITION  E3 ubiquitin-protein ligase RNF185 isoform 2 [Homo sapiens].
ACCESSION   NP_001129297
VERSION     NP_001129297.1
DBSOURCE    REFSEQ: accession NM_001135825.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 136)
  AUTHORS   Lin K, Shen SH, Lu F, Zheng P, Wu S, Liao J, Jiang X, Zeng G and
            Wei D.
  TITLE     CRISPR screening of E3 ubiquitin ligases reveals Ring Finger
            Protein 185 as a novel tumor suppressor in glioblastoma repressed
            by promoter hypermethylation and miR-587
  JOURNAL   J Transl Med 20 (1), 96 (2022)
   PUBMED   35183197
  REMARK    GeneRIF: CRISPR screening of E3 ubiquitin ligases reveals Ring
            Finger Protein 185 as a novel tumor suppressor in glioblastoma
            repressed by promoter hypermethylation and miR-587.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 136)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 136)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 136)
  AUTHORS   Qiu D, Wang Q, Wang Z, Chen J, Yan D, Zhou Y, Li A, Zhang R, Wang S
            and Zhou J.
  TITLE     RNF185 modulates JWA ubiquitination and promotes gastric cancer
            metastasis
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1864 (5 Pt A), 1552-1561 (2018)
   PUBMED   29481911
  REMARK    GeneRIF: increased RNF185 expression facilitated GC cell migration
            in vitro and promoted GC metastasis in vivo by downregulating JWA
            expression.
REFERENCE   5  (residues 1 to 136)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (residues 1 to 136)
  AUTHORS   Zhou Y, Shang H, Zhang C, Liu Y, Zhao Y, Shuang F, Zhong H, Tang J
            and Hou S.
  TITLE     The E3 ligase RNF185 negatively regulates osteogenic
            differentiation by targeting Dvl2 for degradation
  JOURNAL   Biochem Biophys Res Commun 447 (3), 431-436 (2014)
   PUBMED   24727453
  REMARK    GeneRIF: these results indicate that RNF185 negatively regulates
            osteogenesis through the degradation of Dvl2 and down-regulation of
            canonical Wnt signaling pathway and suggest a possible therapeutic
            target in osteoporosis.
REFERENCE   7  (residues 1 to 136)
  AUTHORS   El Khouri E, Le Pavec G, Toledano MB and Delaunay-Moisan A.
  TITLE     RNF185 is a novel E3 ligase of endoplasmic reticulum-associated
            degradation (ERAD) that targets cystic fibrosis transmembrane
            conductance regulator (CFTR)
  JOURNAL   J Biol Chem 288 (43), 31177-31191 (2013)
   PUBMED   24019521
  REMARK    GeneRIF: data thus identify RNF185 and RNF5 as a novel E3 ligase
            module that is central to the control of CFTR degradation.
REFERENCE   8  (residues 1 to 136)
  AUTHORS   Tang F, Wang B, Li N, Wu Y, Jia J, Suo T, Chen Q, Liu YJ and Tang
            J.
  TITLE     RNF185, a novel mitochondrial ubiquitin E3 ligase, regulates
            autophagy through interaction with BNIP1
  JOURNAL   PLoS One 6 (9), e24367 (2011)
   PUBMED   21931693
  REMARK    GeneRIF: Human BNIP1 colocalizes with RNF185 at mitochondria and is
            polyubiquitinated by RNF185 through K63-based ubiquitin linkage in
            vivo.
REFERENCE   9  (residues 1 to 136)
  AUTHORS   Markson G, Kiel C, Hyde R, Brown S, Charalabous P, Bremm A, Semple
            J, Woodsmith J, Duley S, Salehi-Ashtiani K, Vidal M, Komander D,
            Serrano L, Lehner P and Sanderson CM.
  TITLE     Analysis of the human E2 ubiquitin conjugating enzyme protein
            interaction network
  JOURNAL   Genome Res 19 (10), 1905-1911 (2009)
   PUBMED   19549727
REFERENCE   10 (residues 1 to 136)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB134817.1, DQ296562.1 and AA258379.1.
            
            Transcript Variant: This variant (3) is lacking two in-frame coding
            exons compared to transcript variant 1, resulting in a shorter
            isoform (2) missing a 56 aa protein segment compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ296562.1, SRR1660807.105978.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..136
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..136
                     /product="E3 ubiquitin-protein ligase RNF185 isoform 2"
                     /EC_number="2.3.2.27"
                     /note="BSK65-MONO1; BSK65-PANC1; BSK65-TEST3; BSK65-PANC2;
                     BSK65-TEST2; BSK65-MONO2; BSK65-TEST1; E3
                     ubiquitin-protein ligase RNF185; RING-type E3 ubiquitin
                     transferase RNF185"
                     /calculated_mol_wt=14008
     Region          37..>64
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     CDS             1..136
                     /gene="RNF185"
                     /coded_by="NM_001135825.2:171..581"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS46689.1"
                     /db_xref="GeneID:91445"
                     /db_xref="HGNC:HGNC:26783"
                     /db_xref="MIM:620096"
ORIGIN      
        1 maskgpsasa spenssaggp sgssngages ggqdstfecn icldtakdav islcghlfcw
       61 pclhqgfqgf gfgdggfqms fgigafpfgi fatafnindg rpppavpgtp qyvdeqflsr
      121 lflfvalvim fwllia
//
LOCUS       NP_001316406             132 aa            linear   PRI 18-DEC-2022
DEFINITION  pyroglutamyl-peptidase 1 isoform 7 [Homo sapiens].
ACCESSION   NP_001316406 XP_011526417
VERSION     NP_001316406.1
DBSOURCE    REFSEQ: accession NM_001329477.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 132)
  AUTHORS   Bai H, Fang B, Wang X, Qin W, Chen Y, Zhang D, Li Y, Peng B, Yang
            X, Fu L and Li L.
  TITLE     Two-photon fluorogenic probe for visualizing PGP-1 activity in
            inflammatory tissues and serum from patients
  JOURNAL   Chem Commun (Camb) 57 (97), 13186-13189 (2021)
   PUBMED   34816269
  REMARK    GeneRIF: Two-photon fluorogenic probe for visualizing PGP-1
            activity in inflammatory tissues and serum from patients.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 132)
  AUTHORS   Perez I, Blanco L, Sanz B, Errarte P, Ariz U, Beitia M, Fernandez
            A, Loizate A, Candenas ML, Pinto FM, Gil J, Lopez JI and Larrinaga
            G.
  TITLE     Altered Activity and Expression of Cytosolic Peptidases in
            Colorectal Cancer
  JOURNAL   Int J Med Sci 12 (6), 458-467 (2015)
   PUBMED   26078706
  REMARK    GeneRIF: cytosolic peptidases(puromycin-sensitive aminopeptidase
            (PSA), aminopeptidase B (APB) and pyroglutamyl-peptidase I (PGI) )
            may be involved in colorectal carcinogenesis
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 132)
  AUTHORS   Megias,M.J., Alba-Araguez,F., Luna,J.D., Vives,F. and
            Ramirez-Sanchez,M.
  TITLE     Serum pyroglutamyl aminopeptidase activity: a promising novel
            biomarker candidate for liver cirrhosis
  JOURNAL   Endocr Regul 49 (1), 20-24 (2015)
   PUBMED   25687677
  REMARK    GeneRIF: The specific reduction of the levels of
            pyroglutamyl-aminopeptidase activity in serum of liver cirrhosis
            patients might be considered as a potential candidate to be
            included in a combination of markers for the diagnosis of this
            disease.
REFERENCE   4  (residues 1 to 132)
  AUTHORS   Teumer A, Holtfreter B, Volker U, Petersmann A, Nauck M, Biffar R,
            Volzke H, Kroemer HK, Meisel P, Homuth G and Kocher T.
  TITLE     Genome-wide association study of chronic periodontitis in a general
            German population
  JOURNAL   J Clin Periodontol 40 (11), 977-985 (2013)
   PUBMED   24024966
REFERENCE   5  (residues 1 to 132)
  AUTHORS   Wang KS, Liu XF and Aragam N.
  TITLE     A genome-wide meta-analysis identifies novel loci associated with
            schizophrenia and bipolar disorder
  JOURNAL   Schizophr Res 124 (1-3), 192-199 (2010)
   PUBMED   20889312
REFERENCE   6  (residues 1 to 132)
  AUTHORS   Dando PM, Fortunato M, Strand GB, Smith TS and Barrett AJ.
  TITLE     Pyroglutamyl-peptidase I: cloning, sequencing, and characterisation
            of the recombinant human enzyme
  JOURNAL   Protein Expr Purif 28 (1), 111-119 (2003)
   PUBMED   12651114
  REMARK    GeneRIF: cloning and sequencing of the human (AJ278828)
            pyroglutamyl-peptidase I
REFERENCE   7  (residues 1 to 132)
  AUTHORS   Gil J, Larrinaga G, Meana JJ, Rodriguez-Puertas R, Irazusta J and
            Casis L.
  TITLE     Regional and subcellular distribution of soluble aminopeptidase in
            the human and the rat brain: a comparative study
  JOURNAL   Neuropeptides 35 (5-6), 276-284 (2001)
   PUBMED   12030812
REFERENCE   8  (residues 1 to 132)
  AUTHORS   Cummins PM and O'Connor B.
  TITLE     Pyroglutamyl peptidase: an overview of the three known enzymatic
            forms
  JOURNAL   Biochim Biophys Acta 1429 (1), 1-17 (1998)
   PUBMED   9920379
  REMARK    Review article
REFERENCE   9  (residues 1 to 132)
  AUTHORS   O'Cuinn G, O'Connor B and Elmore M.
  TITLE     Degradation of thyrotropin-releasing hormone and luteinising
            hormone-releasing hormone by enzymes of brain tissue
  JOURNAL   J Neurochem 54 (1), 1-13 (1990)
   PUBMED   2104543
  REMARK    Review article
REFERENCE   10 (residues 1 to 132)
  AUTHORS   Charli JL, Mendez M, Vargas MA, Cisneros M, Assai M, Joseph-Bravo P
            and Wilk S.
  TITLE     Pyroglutamyl peptidase II inhibition specifically increases
            recovery of TRH released from rat brain slices
  JOURNAL   Neuropeptides 14 (3), 191-196 (1989)
   PUBMED   2575716
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK289968.1, AK294497.1,
            AC008397.7 and BC004942.1.
            On Jul 14, 2016 this sequence version replaced XP_011526417.1.
            
            Summary: The gene encodes a cysteine protease and member of the
            peptidase C15 family of proteins. The encoded protein cleaves amino
            terminal pyroglutamate residues from protein substrates including
            thyrotropin-releasing hormone and other neuropeptides. Expression
            of this gene may be downregulated in colorectal cancer, while
            activity of the encoded protein may be negatively correlated with
            cancer progression in colorectal cancer patients. Activity of the
            encoded protease may also be altered in other disease states
            including in liver cirrhosis, which is associated with reduced
            protease activity, and in necrozoospermia, which is associated with
            elevated protease activity. [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (7) differs in the 5' UTR, lacks a
            portion of the 5' coding region and uses a downstream translation
            start site compared to variant 1. The encoded isoform (7) has a
            shorter N-terminus than isoform 1. Both variants 7 and 8 encode the
            same isoform (7).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK294497.1, DA190746.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..132
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     Protein         1..132
                     /product="pyroglutamyl-peptidase 1 isoform 7"
                     /EC_number="3.4.19.3"
                     /note="pyrrolidone-carboxylate peptidase;
                     5-oxoprolyl-peptidase; pyroglutamyl-peptidase 1;
                     pyroglutamyl aminopeptidase I; pGlu-peptidase I"
                     /calculated_mol_wt=14508
     Region          <1..122
                     /region_name="Peptidase_C15"
                     /note="Pyroglutamyl peptidase (PGP) type I, also known as
                     pyrrolidone carboxyl peptidase (pcp) type I: Enzymes
                     responsible for cleaving pyroglutamate (pGlu) from the
                     N-terminal end of specialized proteins. The N-terminal
                     pGlu protects these proteins from...; cl00237"
                     /db_xref="CDD:444776"
     Site            order(2..4,53,56..59,62,101..102,104,110,111)
                     /site_type="active"
                     /note="AC domain interface [active]"
                     /db_xref="CDD:238279"
     Site            order(8,72,96)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:238279"
     Site            order(9..10,14,16,18,27..28,37..40,46,65..66,69)
                     /site_type="active"
                     /note="AB domain interface [active]"
                     /db_xref="CDD:238279"
     Site            111
                     /site_type="active"
                     /note="interchain disulfide [active]"
                     /db_xref="CDD:238279"
     CDS             1..132
                     /gene="PGPEP1"
                     /gene_synonym="PAP-I; Pcp; PGI; PGP; PGP-I; PGPI"
                     /coded_by="NM_001329477.2:263..661"
                     /note="isoform 7 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS82319.1"
                     /db_xref="GeneID:54858"
                     /db_xref="HGNC:HGNC:13568"
                     /db_xref="MIM:610694"
ORIGIN      
        1 mattvtlekc ghnkgykgld ncrfcpgsqc cvedgpesid siidmdavck rvttlgldvs
       61 vtisqdagry lcdftyytsl yqshgrsafv hvpplgkpyn adqlgralra iieemldlle
      121 qsegkinych kh
//
LOCUS       NP_001770                250 aa            linear   PRI 18-DEC-2022
DEFINITION  lymphocyte function-associated antigen 3 isoform 1 [Homo sapiens].
ACCESSION   NP_001770
VERSION     NP_001770.1
DBSOURCE    REFSEQ: accession NM_001779.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 250)
  AUTHORS   Xiong Y, Motomura H, Tamori S, Ozaki A, Onaga C, Hara Y, Sato K,
            Tahata K, Harada Y, Sasaki K, Zheng YW, Ohno S and Akimoto K.
  TITLE     High Expression of CD58 and ALDH1A3 Predicts a Poor Prognosis in
            Basal-like Breast Cancer
  JOURNAL   Anticancer Res 42 (11), 5223-5232 (2022)
   PUBMED   36288878
  REMARK    GeneRIF: High Expression of CD58 and ALDH1A3 Predicts a Poor
            Prognosis in Basal-like Breast Cancer.
REFERENCE   2  (residues 1 to 250)
  AUTHORS   Romain G, Strati P, Rezvan A, Fathi M, Bandey IN, Adolacion JRT,
            Heeke D, Liadi I, Marques-Piubelli ML, Solis LM, Mahendra A, Vega
            F, Cooper LJ, Singh H, Mattie M, Bot A, Neelapu SS and Varadarajan
            N.
  TITLE     Multidimensional single-cell analysis identifies a role for
            CD2-CD58 interactions in clinical antitumor T cell responses
  JOURNAL   J Clin Invest 132 (17) (2022)
   PUBMED   35881486
  REMARK    GeneRIF: Multidimensional single-cell analysis identifies a role
            for CD2-CD58 interactions in clinical antitumor T cell responses.
REFERENCE   3  (residues 1 to 250)
  AUTHORS   Ariel O, Kukulansky T, Raz N and Hollander N.
  TITLE     Distinct membrane localization and kinase association of the two
            isoforms of CD58
  JOURNAL   Cell Signal 16 (6), 667-673 (2004)
   PUBMED   15093607
  REMARK    GeneRIF: Transmembrane CD58 may trigger signaling independently of
            the GPI-linked isoform.
REFERENCE   4  (residues 1 to 250)
  AUTHORS   Kirby AC, Cahen P, Porter SR and Olsen I.
  TITLE     Soluble and cell-associated forms of the adhesion molecule LFA-3
            (CD58) are differentially regulated by inflammatory cytokines
  JOURNAL   Cell Adhes Commun 7 (6), 453-464 (2000)
   PUBMED   11051456
REFERENCE   5  (residues 1 to 250)
  AUTHORS   Itzhaky D, Raz N and Hollander N.
  TITLE     The glycosylphosphatidylinositol-anchored form and the
            transmembrane form of CD58 associate with protein kinases
  JOURNAL   J Immunol 160 (9), 4361-4366 (1998)
   PUBMED   9574540
REFERENCE   6  (residues 1 to 250)
  AUTHORS   Wallich R, Brenner C, Brand Y, Roux M, Reister M and Meuer S.
  TITLE     Gene structure, promoter characterization, and basis for
            alternative mRNA splicing of the human CD58 gene
  JOURNAL   J Immunol 160 (6), 2862-2871 (1998)
   PUBMED   9510189
REFERENCE   7  (residues 1 to 250)
  AUTHORS   Kirby AC, Hill V, Olsen I and Porter SR.
  TITLE     LFA-3 delta D2: a novel in vivo isoform of lymphocyte
            function-associated antigen 3
  JOURNAL   Biochem Biophys Res Commun 214 (1), 200-205 (1995)
   PUBMED   7545392
REFERENCE   8  (residues 1 to 250)
  AUTHORS   Hahn WC, Menu E, Bothwell AL, Sims PJ and Bierer BE.
  TITLE     Overlapping but nonidentical binding sites on CD2 for CD58 and a
            second ligand CD59
  JOURNAL   Science 256 (5065), 1805-1807 (1992)
   PUBMED   1377404
REFERENCE   9  (residues 1 to 250)
  AUTHORS   Seed B.
  TITLE     An LFA-3 cDNA encodes a phospholipid-linked membrane protein
            homologous to its receptor CD2
  JOURNAL   Nature 329 (6142), 840-842 (1987)
   PUBMED   3313052
REFERENCE   10 (residues 1 to 250)
  AUTHORS   Wallner BP, Frey AZ, Tizard R, Mattaliano RJ, Hession C, Sanders
            ME, Dustin ML and Springer TA.
  TITLE     Primary structure of lymphocyte function-associated antigen 3
            (LFA-3). The ligand of the T lymphocyte CD2 glycoprotein
  JOURNAL   J Exp Med 166 (4), 923-932 (1987)
   PUBMED   3309127
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355794.5, Y00636.1 and
            CA312671.1.
            
            Summary: This gene encodes a member of the immunoglobulin
            superfamily. The encoded protein is a ligand of the T lymphocyte
            CD2 protein, and functions in adhesion and activation of T
            lymphocytes. The protein is localized to the plasma membrane.
            Alternatively spliced transcript variants have been described.
            [provided by RefSeq, Jan 2009].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Y00636.1, SRR14038196.2421896.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369489.10/ ENSP00000358501.5
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..250
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.1"
     Protein         1..250
                     /product="lymphocyte function-associated antigen 3 isoform
                     1"
                     /note="CD58 antigen, (lymphocyte function-associated
                     antigen 3); surface glycoprotein LFA-3"
                     /calculated_mol_wt=28016
     Region          30..121
                     /region_name="IgV_CD2_like_N"
                     /note="N-terminal immunoglobulin (Ig)-like domain of
                     T-cell surface antigen CD2, and similar domains; cd05775"
                     /db_xref="CDD:409431"
     Region          30..45
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409431"
     Region          34..36
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409431"
     Region          39..46
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409431"
     Site            40
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P19256.1)"
     Region          46..52
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409431"
     Region          53..58
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409431"
     Region          53..57
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409431"
     Region          59..73
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409431"
     Region          62..67
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409431"
     Region          70..73
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409431"
     Region          80..107
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409431"
     Region          80..85
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409431"
     Region          88..92
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409431"
     Site            94
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P19256.1)"
     Region          102..107
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409431"
     Region          108..112
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409431"
     Site            109
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P19256.1)"
     Region          113..120
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409431"
     Region          113..119
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409431"
     Site            135
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P19256.1)"
     Site            169
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P19256.1)"
     Site            195
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P19256.1)"
     Site            216..238
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P19256.1)"
     CDS             1..250
                     /gene="CD58"
                     /gene_synonym="ag3; LFA-3; LFA3"
                     /coded_by="NM_001779.3:55..807"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS888.1"
                     /db_xref="GeneID:965"
                     /db_xref="HGNC:HGNC:1688"
                     /db_xref="MIM:153420"
ORIGIN      
        1 mvagsdagra lgvlsvvcll hcfgfiscfs qqiygvvygn vtfhvpsnvp lkevlwkkqk
       61 dkvaelense frafssfknr vyldtvsgsl tiynltssde deyemespni tdtmkfflyv
      121 leslpsptlt caltngsiev qcmipehyns hrglimyswd cpmeqckrns tsiyfkmend
      181 lpqkiqctls nplfnttssi ilttcipssg hsrhryalip iplavittci vlymngilkc
      241 drkpdrtnsn
//
LOCUS       NP_776172                349 aa            linear   PRI 18-DEC-2022
DEFINITION  putative nuclease HARBI1 [Homo sapiens].
ACCESSION   NP_776172
VERSION     NP_776172.1
DBSOURCE    REFSEQ: accession NM_173811.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 349)
  AUTHORS   Ferreira RC, Pan-Hammarstrom Q, Graham RR, Gateva V, Fontan G, Lee
            AT, Ortmann W, Urcelay E, Fernandez-Arquero M, Nunez C, Jorgensen
            G, Ludviksson BR, Koskinen S, Haimila K, Clark HF, Klareskog L,
            Gregersen PK, Behrens TW and Hammarstrom L.
  TITLE     Association of IFIH1 and other autoimmunity risk alleles with
            selective IgA deficiency
  JOURNAL   Nat Genet 42 (9), 777-780 (2010)
   PUBMED   20694011
REFERENCE   2  (residues 1 to 349)
  AUTHORS   Sinzelle L, Kapitonov VV, Grzela DP, Jursch T, Jurka J, Izsvak Z
            and Ivics Z.
  TITLE     Transposition of a reconstructed Harbinger element in human cells
            and functional homology with two transposon-derived cellular genes
  JOURNAL   Proc Natl Acad Sci U S A 105 (12), 4715-4720 (2008)
   PUBMED   18339812
  REMARK    GeneRIF: The functions of two transposon-derived human proteins:
            HARBI1, a domesticated transposase-derived protein, and NAIF1,
            which contains a trihelix motif similar to that described in the
            Myb-like protein, was investigated.
REFERENCE   3  (residues 1 to 349)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   4  (residues 1 to 349)
  AUTHORS   Kapitonov VV and Jurka J.
  TITLE     Harbinger transposons and an ancient HARBI1 gene derived from a
            transposase
  JOURNAL   DNA Cell Biol 23 (5), 311-324 (2004)
   PUBMED   15169610
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK057237.1, BM768489.1 and AC127035.6.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK057237.1, SRR1803617.153363.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326737.3/ ENSP00000317743.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..349
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..349
                     /product="putative nuclease HARBI1"
                     /EC_number="3.1.-.-"
                     /note="harbinger transposase-derived nuclease"
                     /calculated_mol_wt=39015
     Region          148..300
                     /region_name="DDE_Tnp_4"
                     /note="DDE superfamily endonuclease; pfam13359"
                     /db_xref="CDD:433143"
     CDS             1..349
                     /gene="HARBI1"
                     /gene_synonym="C11orf77"
                     /coded_by="NM_173811.4:249..1298"
                     /db_xref="CCDS:CCDS7920.1"
                     /db_xref="GeneID:283254"
                     /db_xref="HGNC:HGNC:26522"
                     /db_xref="MIM:615086"
ORIGIN      
        1 maipitvldc dlllygrghr tldrfklddv tdeylmsmyg fprqfiyylv ellganlsrp
       61 tqrsraispe tqvlaalgfy tsgsfqtrmg daigisqasm srcvanvtea lverasqfir
      121 fpadeasiqa lkdefyglag mpgvmgvvdc ihvaikapna edlsyvnrkg lhslnclmvc
      181 dirgtlmtve tnwpgslqdc avlqqsslss qfeagmhkds wllgdssffl rtwlmtplhi
      241 petpaeyryn mahsathsvi ektfrtlcsr frcldgskga lqyspekssh iilaccvlhn
      301 islehgmdvw sspmtgpmeq ppeeeyehme sldleadrir qelmlthfs
//
LOCUS       NP_001333410             326 aa            linear   PRI 18-DEC-2022
DEFINITION  archaemetzincin-2 isoform 3 [Homo sapiens].
ACCESSION   NP_001333410 XP_016880217
VERSION     NP_001333410.1
DBSOURCE    REFSEQ: accession NM_001346481.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 326)
  AUTHORS   Huang W, Wang Y, Chu W and Tseng R.
  TITLE     Refined-mapping of the novel TSG within the 17q24.3 chromosomal
            region in non-small cell lung cancer samples
  JOURNAL   Oncol Lett 12 (3), 1975-1980 (2016)
   PUBMED   27602123
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005332.1.
            On Oct 14, 2016 this sequence version replaced XP_016880217.1.
            
            Summary: The protein encoded by this gene is a zinc metalloprotease
            that displays some activity against angiotensin-3. The encoded
            protein is inhibited by the aminopeptidase inhibitor amastatin, as
            well as by the general inhibitors o-phenanthroline and batimastat.
            Defects in this gene may be associated with lung tumorigenesis.
            [provided by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (19), as well as variants 20-22,
            encodes isoform 3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.295319.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..326
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.2"
     Protein         1..326
                     /product="archaemetzincin-2 isoform 3"
                     /note="archaemetzincins-2; archeobacterial
                     metalloproteinase-like protein 2"
                     /calculated_mol_wt=36878
     Region          69..263
                     /region_name="Peptidase_M54"
                     /note="Peptidase family M54, also called archaemetzincins
                     or archaelysins; cd11375"
                     /db_xref="CDD:213029"
     Site            order(152,154,220..221,224,230..231,236,238,255,258)
                     /site_type="active"
                     /db_xref="CDD:213029"
     CDS             1..326
                     /gene="AMZ2"
                     /coded_by="NM_001346481.1:223..1203"
                     /note="isoform 3 is encoded by transcript variant 19"
                     /db_xref="GeneID:51321"
                     /db_xref="HGNC:HGNC:28041"
                     /db_xref="MIM:615169"
ORIGIN      
        1 mkpssqpvis ldplpcilhq igspptlrlp ktlnsssvil terhplqtna afiysplvnt
       61 gslgntriis eeyikwltgy ckayfyglrv kllepvpvsv trcsfrvnen thnlqihagd
      121 ilkflkkkkp edafcvvgit midlyprdsw nfvfgqaslt dgvgifsfar ygsdfysmhy
      181 kgkvkklkkt sssdysifdn yyipeitsvl llrscktlth eighifglrh cqwlaclmqg
      241 snhleeadrr plnlcpiclh klqcavgfsi verykalvrw iddessdtpg atpehshedn
      301 gnlpkpveaf kewkewiikc lavlqk
//
LOCUS       NP_001240790             122 aa            linear   PRI 19-DEC-2022
DEFINITION  meiotic nuclear division protein 1 homolog isoform 2 [Homo
            sapiens].
ACCESSION   NP_001240790
VERSION     NP_001240790.1
DBSOURCE    REFSEQ: accession NM_001253861.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 122)
  AUTHORS   Fang J, Zhen J, Gong Y, Ke Y, Fu B, Jiang Y, Xie J, Liu Y, Ding Y,
            Huang D and Xiao F.
  TITLE     MND1 functions as a potential prognostic biomarker associated with
            cell cycle and immune infiltration in kidney renal clear cell
            carcinoma
  JOURNAL   Aging (Albany NY) 14 (18), 7416-7442 (2022)
   PUBMED   36098680
  REMARK    GeneRIF: MND1 functions as a potential prognostic biomarker
            associated with cell cycle and immune infiltration in kidney renal
            clear cell carcinoma.
REFERENCE   2  (residues 1 to 122)
  AUTHORS   Zhang Q, Shi R, Bai Y, Meng L, Hu J, Zhu H, Liu T, De X, Wang S,
            Wang J, Xu L, Zhou G and Yin R.
  TITLE     Meiotic nuclear divisions 1 (MND1) fuels cell cycle progression by
            activating a KLF6/E2F1 positive feedback loop in lung
            adenocarcinoma
  JOURNAL   Cancer Commun (Lond) 41 (6), 492-510 (2021)
   PUBMED   33734616
  REMARK    GeneRIF: Meiotic nuclear divisions 1 (MND1) fuels cell cycle
            progression by activating a KLF6/E2F1 positive feedback loop in
            lung adenocarcinoma.
REFERENCE   3  (residues 1 to 122)
  AUTHORS   Wei J, Meng G, Wu J, Zhang Q and Zhang J.
  TITLE     Genetic network and gene set enrichment analyses identify MND1 as
            potential diagnostic and therapeutic target gene for lung
            adenocarcinoma
  JOURNAL   Sci Rep 11 (1), 9430 (2021)
   PUBMED   33941804
  REMARK    GeneRIF: Genetic network and gene set enrichment analyses identify
            MND1 as potential diagnostic and therapeutic target gene for lung
            adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 122)
  AUTHORS   Tran TN, Martinez J and Schimenti JC.
  TITLE     A predicted deleterious allele of the essential meiosis gene MND1,
            present in ~ 3% of East Asians, does not disrupt reproduction in
            mice
  JOURNAL   Mol Hum Reprod 25 (10), 668-673 (2019)
   PUBMED   31393579
  REMARK    GeneRIF: Assuming the mouse model accurately reflects the impact of
            this variant in humans, rs140107488 appears to be a benign allele
            that can be eliminated or de-prioritized in clinical genomic
            analyses of infertility patients.
REFERENCE   5  (residues 1 to 122)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (residues 1 to 122)
  AUTHORS   Dorosh A, Tepla O, Zatecka E, Ded L, Koci K and Peknicova J.
  TITLE     Expression analysis of MND1/GAJ, SPATA22, GAPDHS and ACR genes in
            testicular biopsies from non-obstructive azoospermia (NOA) patients
  JOURNAL   Reprod Biol Endocrinol 11, 42 (2013)
   PUBMED   23675907
  REMARK    GeneRIF: Data indicate that the positive expression of studied
            genes fertilization rate for GAPDHS positive subset was 66%, ACR -
            71%, SPATA22 - 68%, MND1 - 70%, pregnancy rates were 8%, 6%, 18%
            and 36% respectively.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 122)
  AUTHORS   Chi P, San Filippo J, Sehorn MG, Petukhova GV and Sung P.
  TITLE     Bipartite stimulatory action of the Hop2-Mnd1 complex on the Rad51
            recombinase
  JOURNAL   Genes Dev 21 (14), 1747-1757 (2007)
   PUBMED   17639080
REFERENCE   8  (residues 1 to 122)
  AUTHORS   Enomoto R, Kinebuchi T, Sato M, Yagi H, Kurumizaka H and Yokoyama
            S.
  TITLE     Stimulation of DNA strand exchange by the human TBPIP/Hop2-Mnd1
            complex
  JOURNAL   J Biol Chem 281 (9), 5575-5581 (2006)
   PUBMED   16407260
  REMARK    GeneRIF: Data suggest that the human TBPIP/Hop2-Mnd1 complex may
            ensure proper pairing between homologous chromosomes through its
            stimulation of strand exchange during meiosis.
REFERENCE   9  (residues 1 to 122)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   10 (residues 1 to 122)
  AUTHORS   Tsubouchi H and Roeder GS.
  TITLE     The Mnd1 protein forms a complex with hop2 to promote homologous
            chromosome pairing and meiotic double-strand break repair
  JOURNAL   Mol Cell Biol 22 (9), 3078-3088 (2002)
   PUBMED   11940665
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM820228.1, BG613292.1, BU533354.1 and AA542845.1.
            
            Summary: The product of the MND1 gene associates with HOP2 (MIM
            608665) to form a stable heterodimeric complex that binds DNA and
            stimulates the recombinase activity of RAD51 (MIM 179617) and DMC1
            (MIM 602721) (Chi et al., 2007 [PubMed 17639080]). Both the MND1
            and HOP2 genes are indispensable for meiotic
            recombination.[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (2) lacks an exon in the 3' coding
            region, which results in a frameshift, compared to variant 1. The
            encoded isoform (2) is shorter and has a distinct C-terminus,
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BU935172.1, BG613292.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..122
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.3"
     Protein         1..122
                     /product="meiotic nuclear division protein 1 homolog
                     isoform 2"
                     /note="homolog of yeast MND1; meiotic nuclear division
                     protein 1 homolog; meiotic nuclear divisions 1 homolog"
                     /calculated_mol_wt=13713
     Region          16..75
                     /region_name="Mnd1"
                     /note="Mnd1 family; pfam03962"
                     /db_xref="CDD:427618"
     CDS             1..122
                     /gene="MND1"
                     /gene_synonym="GAJ"
                     /coded_by="NM_001253861.1:90..458"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS75202.1"
                     /db_xref="GeneID:84057"
                     /db_xref="HGNC:HGNC:24839"
                     /db_xref="MIM:611422"
ORIGIN      
        1 mskkkglsae ekrtrmmeif setkdvfqlk dlekiapkek gitamsvkev lqslvddgmv
       61 dcerigtsny ywafpskalh arkhklevle sqlsegsqkh aslqksieka kigrcetakq
      121 ik
//
LOCUS       NP_001184252             175 aa            linear   PRI 23-DEC-2022
DEFINITION  HIRA-interacting protein 3 isoform 2 [Homo sapiens].
ACCESSION   NP_001184252
VERSION     NP_001184252.1
DBSOURCE    REFSEQ: accession NM_001197323.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 175)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 175)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 175)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   4  (residues 1 to 175)
  AUTHORS   Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger
            KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH,
            Geschwind DH, Dobyns WB, Scherer SW and Christian SL.
  TITLE     Association and mutation analyses of 16p11.2 autism candidate genes
  JOURNAL   PLoS One 4 (2), e4582 (2009)
   PUBMED   19242545
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 175)
  AUTHORS   Assrir N, Filhol O, Galisson F and Lipinski M.
  TITLE     HIRIP3 is a nuclear phosphoprotein interacting with and
            phosphorylated by the serine-threonine kinase CK2
  JOURNAL   Biol Chem 388 (4), 391-398 (2007)
   PUBMED   17391060
  REMARK    GeneRIF: HIRIP3 can be phosphorylated in vitro by a recombinant
            form of the serine-threonine kinase CK2. Moreover, HIRIP3 protein
            was found to co-purify with a CK2 activity.
REFERENCE   6  (residues 1 to 175)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   7  (residues 1 to 175)
  AUTHORS   Kim JE, Tannenbaum SR and White FM.
  TITLE     Global phosphoproteome of HT-29 human colon adenocarcinoma cells
  JOURNAL   J Proteome Res 4 (4), 1339-1346 (2005)
   PUBMED   16083285
REFERENCE   8  (residues 1 to 175)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   9  (residues 1 to 175)
  AUTHORS   Lorain S, Quivy JP, Monier-Gavelle F, Scamps C, Lecluse Y, Almouzni
            G and Lipinski M.
  TITLE     Core histones and HIRIP3, a novel histone-binding protein, directly
            interact with WD repeat protein HIRA
  JOURNAL   Mol Cell Biol 18 (9), 5546-5556 (1998)
   PUBMED   9710638
REFERENCE   10 (residues 1 to 175)
  AUTHORS   Auffray C, Behar G, Bois F, Bouchier C, Da Silva C, Devignes MD,
            Duprat S, Houlgatte R, Jumeau MN, Lamy B et al.
  TITLE     [IMAGE: molecular integration of the analysis of the human genome
            and its expression]
  JOURNAL   C R Acad Sci III 318 (2), 263-272 (1995)
   PUBMED   7757816
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA716463.1, BC000588.2,
            BE207110.1, Z25386.1, BU629222.1, BX101682.1 and BM673568.1.
            
            Summary: The HIRA protein shares sequence similarity with Hir1p and
            Hir2p, the two corepressors of histone gene transcription
            characterized in the yeast, Saccharomyces cerevisiae. The
            structural features of the HIRA protein suggest that it may
            function as part of a multiprotein complex. Several cDNAs encoding
            HIRA-interacting proteins, or HIRIPs, have been identified. In
            vitro, the protein encoded by this gene binds HIRA, as well as H2B
            and H3 core histones, indicating that a complex containing
            HIRA-HIRIP3 could function in some aspects of chromatin and histone
            metabolism. Alternatively spliced transcript variants encoding
            distinct isoforms have been found for this gene.[provided by
            RefSeq, Aug 2011].
            
            Transcript Variant: This variant (2) lacks an exon in the coding
            region, resulting in frame-shift, compared to variant 1. The
            resulting isoform (2) is shorter and has a distinct C-terminus,
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.87083.1,
                                           SRR1660803.17246.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..175
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     Protein         1..175
                     /product="HIRA-interacting protein 3 isoform 2"
                     /calculated_mol_wt=19578
     Site            27
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BW71.3)"
     Site            84
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243; propagated from
                     UniProtKB/Swiss-Prot (Q9BW71.3)"
     Site            87
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243; propagated from
                     UniProtKB/Swiss-Prot (Q9BW71.3)"
     Site            98
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BW71.3)"
     Site            100
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BW71.3)"
     CDS             1..175
                     /gene="HIRIP3"
                     /coded_by="NM_001197323.1:492..1019"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS58449.1"
                     /db_xref="GeneID:8479"
                     /db_xref="HGNC:HGNC:4917"
                     /db_xref="MIM:603365"
ORIGIN      
        1 marekemqef trsffrgrpd lstlthsivr rrylahsgrs hlepeekqal krlveeellk
       61 mqvdeaasre dkldltkkgk rpptpcsdpe rkrfrfnses gwlrspwrgp pgcdeaealh
      121 sglwcpsklq eavglllltq gapeyppgrt gsarhegypf prevsgpega egggs
//
LOCUS       NP_001340617            1591 aa            linear   PRI 24-DEC-2022
DEFINITION  rho guanine nucleotide exchange factor TIAM1 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001340617 XP_016883941
VERSION     NP_001340617.1
DBSOURCE    REFSEQ: accession NM_001353688.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1591)
  AUTHORS   Li N, Wang X, Sun J, Liu Y, Han A, Lin Z and Yang Y.
  TITLE     miR-21-5p/Tiam1-mediated glycolysis reprogramming drives breast
            cancer progression via enhancing PFKL stabilization
  JOURNAL   Carcinogenesis 43 (7), 705-715 (2022)
   PUBMED   35511493
  REMARK    GeneRIF: miR-21-5p/Tiam1-mediated glycolysis reprogramming drives
            breast cancer progression via enhancing PFKL stabilization.
REFERENCE   2  (residues 1 to 1591)
  AUTHORS   Guo H, Ji Y, Zhang B and Huang X.
  TITLE     Fibulin-3 sponges Tiam1 to manipulate MMP-7 activity through
            beta-catenin signaling in oral squamous cell carcinoma
  JOURNAL   Med Oncol 39 (10), 154 (2022)
   PUBMED   35852664
  REMARK    GeneRIF: Fibulin-3 sponges Tiam1 to manipulate MMP-7 activity
            through beta-catenin signaling in oral squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1591)
  AUTHORS   Payapilly A, Guilbert R, Descamps T, White G, Magee P, Zhou C, Kerr
            A, Simpson KL, Blackhall F, Dive C and Malliri A.
  TITLE     TIAM1-RAC1 promote small-cell lung cancer cell survival through
            antagonizing Nur77-induced BCL2 conformational change
  JOURNAL   Cell Rep 37 (6), 109979 (2021)
   PUBMED   34758330
  REMARK    GeneRIF: TIAM1-RAC1 promote small-cell lung cancer cell survival
            through antagonizing Nur77-induced BCL2 conformational change.
REFERENCE   4  (residues 1 to 1591)
  AUTHORS   Lavictoire SJ, Jomaa D, Gont A, Jardine K, Cook DP and Lorimer IAJ.
  TITLE     Identification of Rac guanine nucleotide exchange factors promoting
            Lgl1 phosphorylation in glioblastoma
  JOURNAL   J Biol Chem 297 (5), 101172 (2021)
   PUBMED   34624316
  REMARK    GeneRIF: Identification of Rac guanine nucleotide exchange factors
            promoting Lgl1 phosphorylation in glioblastoma.
REFERENCE   5  (residues 1 to 1591)
  AUTHORS   Wang B, Zheng B, Cao L, Liao K, Huang D, Zhang Y, Jiang Y and Zheng
            S.
  TITLE     T-lymphoma invasion and metastasis 1 promotes invadopodia formation
            and is regulated by the PI3K/Akt signaling pathway in
            hepatocellular carcinoma
  JOURNAL   Exp Cell Res 407 (2), 112806 (2021)
   PUBMED   34487727
  REMARK    GeneRIF: T-lymphoma invasion and metastasis 1 promotes invadopodia
            formation and is regulated by the PI3K/Akt signaling pathway in
            hepatocellular carcinoma.
REFERENCE   6  (residues 1 to 1591)
  AUTHORS   Michiels F, Stam JC, Hordijk PL, van der Kammen RA, Ruuls-Van
            Stalle L, Feltkamp CA and Collard JG.
  TITLE     Regulated membrane localization of Tiam1, mediated by the
            NH2-terminal pleckstrin homology domain, is required for
            Rac-dependent membrane ruffling and C-Jun NH2-terminal kinase
            activation
  JOURNAL   J Cell Biol 137 (2), 387-398 (1997)
   PUBMED   9128250
REFERENCE   7  (residues 1 to 1591)
  AUTHORS   Chen H and Antonarakis SE.
  TITLE     Localization of a human homolog of the mouse Tiam-1 gene to
            chromosome 21q22.1
  JOURNAL   Genomics 30 (1), 123-127 (1995)
   PUBMED   8595894
REFERENCE   8  (residues 1 to 1591)
  AUTHORS   Michiels F, Habets GG, Stam JC, van der Kammen RA and Collard JG.
  TITLE     A role for Rac in Tiam1-induced membrane ruffling and invasion
  JOURNAL   Nature 375 (6529), 338-340 (1995)
   PUBMED   7753201
REFERENCE   9  (residues 1 to 1591)
  AUTHORS   Habets GG, van der Kammen RA, Stam JC, Michiels F and Collard JG.
  TITLE     Sequence of the human invasion-inducing TIAM1 gene, its
            conservation in evolution and its expression in tumor cell lines of
            different tissue origin
  JOURNAL   Oncogene 10 (7), 1371-1376 (1995)
   PUBMED   7731688
REFERENCE   10 (residues 1 to 1591)
  AUTHORS   Habets GG, van der Kammen RA, Jenkins NA, Gilbert DJ, Copeland NG,
            Hagemeijer A and Collard JG.
  TITLE     The invasion-inducing TIAM1 gene maps to human chromosome band
            21q22 and mouse chromosome 16
  JOURNAL   Cytogenet Cell Genet 70 (1-2), 48-51 (1995)
   PUBMED   7736788
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000251.1, AP000563.1,
            AP000248.1, AP000247.2 and AP000246.1.
            On Jul 21, 2017 this sequence version replaced XP_016883941.1.
            
            Summary: This gene encodes a RAC1-specific guanine nucleotide
            exchange factor (GEF). GEFs mediate the exchange of guanosine
            diphosphate (GDP) for guanosine triphosphate (GTP). The binding of
            GTP induces a conformational change in RAC1 that allows downstream
            effectors to bind and transduce a signal. This gene thus regulates
            RAC1 signaling pathways that affect cell shape, migration,
            adhesion, growth, survival, and polarity, as well as influencing
            actin cytoskeletal formation, endocytosis, and membrane
            trafficking. This gene thus plays an important role in cell
            invasion, metastasis, and carcinogenesis. In addition to RAC1, the
            encoded protein activates additional Rho-like GTPases such as
            CDC42, RAC2, RAC3 and RHOA. This gene encodes multiple protein
            isoforms that experience a diverse array of intramolecular,
            protein-protein, and phosphorylation interactions as well as
            phosphoinositide binding. Both the longer and shorter isoforms have
            C-terminal Dbl homology (DH) and pleckstrin homology (PH) domains
            while only the longer isoforms of this gene have the N-terminal
            myristoylation site and the downstream N-terminal PH domain,
            ras-binding domain (RBD), and PSD-95/DlgA/ZO-1 (PDZ) domain.
            [provided by RefSeq, Jul 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803612.231179.1, SRR1803613.213569.1
                                    [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1591
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     Protein         1..1591
                     /product="rho guanine nucleotide exchange factor TIAM1
                     isoform 1"
                     /note="human T-lymphoma invasion and metastasis inducing
                     TIAM1 protein; T-lymphoma invasion and metastasis-inducing
                     protein 1; T cell lymphoma invasion and metastasis 1; rho
                     guanine nucleotide exchange factor TIAM1"
                     /calculated_mol_wt=177378
     Region          1..78
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13009.2)"
     Site            231
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q13009.2)"
     Region          298..379
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13009.2)"
     Site            356
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q60610; propagated from
                     UniProtKB/Swiss-Prot (Q13009.2)"
     Site            358
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q60610; propagated from
                     UniProtKB/Swiss-Prot (Q13009.2)"
     Region          393..422
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13009.2)"
     Region          432..558
                     /region_name="PH1_Tiam1_2"
                     /note="T-lymphoma invasion and metastasis 1 and 2
                     Pleckstrin Homology (PH) domain, N-terminal domain;
                     cd01230"
                     /db_xref="CDD:269937"
     Region          572..669
                     /region_name="Tiam_CC_Ex"
                     /note="T-lymphoma invasion and metastasis CC-Ex domain;
                     pfam18385"
                     /db_xref="CDD:408184"
     Site            695
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q60610; propagated from
                     UniProtKB/Swiss-Prot (Q13009.2)"
     Region          766..839
                     /region_name="RBD"
                     /note="Raf-like Ras-binding domain; pfam02196"
                     /db_xref="CDD:426652"
     Site            829
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by NTRK2.
                     /evidence=ECO:0000250|UniProtKB:Q60610; propagated from
                     UniProtKB/Swiss-Prot (Q13009.2)"
     Region          846..925
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(857..860,862,911..912,915)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          939..1034
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13009.2)"
     Region          1044..1233
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; smart00325"
                     /db_xref="CDD:214619"
     Site            order(1047,1051,1157,1183..1184,1187..1188,1190..1191,
                     1194..1195,1198..1199,1202,1228,1232)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          1235..1406
                     /region_name="PH2_Tiam1_2"
                     /note="T-lymphoma invasion and metastasis 1 and 2
                     Pleckstrin Homology (PH) domain, C-terminal domain;
                     cd01255"
                     /db_xref="CDD:269957"
     Site            1323
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q60610; propagated from
                     UniProtKB/Swiss-Prot (Q13009.2)"
     Region          1456..1482
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13009.2)"
     Site            1519
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q60610; propagated from
                     UniProtKB/Swiss-Prot (Q13009.2)"
     CDS             1..1591
                     /gene="TIAM1"
                     /gene_synonym="NEDLDS; TIAM-1"
                     /coded_by="NM_001353688.1:868..5643"
                     /note="isoform 1 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS13609.1"
                     /db_xref="GeneID:7074"
                     /db_xref="HGNC:HGNC:11805"
                     /db_xref="MIM:600687"
ORIGIN      
        1 mgnaesqhve hefygekhas lgrkhtsrsl rlshktrrtr hassgkvihr nsevstrsss
       61 tpsipqslae nglepfsqdg tledfgspiw vdrvdmglrp vsytdssvtp svdssivlta
      121 asvqsmpdte esrlygddat ylaeggrrqh sytsngptfm etasfkkkrs ksadiwreds
      181 lefslsdlsq ehltsneeil gsaeekdcee argmetrasp rqlstcqran slgdlyaqkn
      241 sgvtanggpg skfagycrnl vsdipnlanh kmppaaaeet ppysnyntlp crkshclseg
      301 atnpqishsn smqgrraktt qdvnagegse fadsgiegat tdtdllsrrs natnssyspt
      361 tgrafvgsds gssstgdaar qgvyenfrre lemsttnses leeagsahsd eqssgtlssp
      421 gqsdilltaa qgtvrkagal avknflvhkk nkkvesatrr kwkhywvslk gctlffyesd
      481 grsgidhnsi pkhavwvens ivqavpehpk kdfvfclsns lgdaflfqtt sqtelenwit
      541 aihsacatav arhhhkedtl rllkseikkl eqkidmdekm kkmgemqlss vtdskkkkti
      601 ldqifvweqn leqfqmdlfr frcylaslqg gelpnpkrll afasrptkva mgrlgifsvs
      661 sfhalvaart getgvrrrtq amsrsaskrr srfsslwgld ttskkkqgrp sinqvfgegt
      721 eavkkslegi fddivpdgkr ekevvlpnvh qhnpdcdiwv heyftpswfc lpnnqpaltv
      781 vrpgdtardt lelickthql dhsahylrlk flienkmqly vpqpeediye llykeieicp
      841 kvtqsihiek sdtaadtygf slssveedgi rrlyvnsvke tglaskkglk agdeileinn
      901 raadalnssm lkdflsqpsl gllvrtypel eegvellesp phrvdgpadl gesplaflts
      961 npghslcseq gssaetapee tegpdlessd etdhsskste qvaafcrslh emnpsdqsps
     1021 pqdstgpqla tmrqlsdadk lrkvicelle tertyvkdln clmerylkpl qketfltqde
     1081 ldvlfgnlte mvefqveflk tledgvrlvp dleklekvdq fkkvlfslgg sflyyadrfk
     1141 lysafcasht kvpkvlvkak tdtafkafld aqnpkqqhss tlesylikpi qrilkyplll
     1201 relfaltdae seehyhldva iktmnkvash inemqkihee fgavfdqlia eqtgekkeva
     1261 dlsmgdlllh ttviwlnppa slgkwkkepe laafvfktav vlvykdgskq kkklvgshrl
     1321 siyedwdpfr frhmipteal qvralasada eanavceivh vksesegrpe rvfhlccssp
     1381 esrkdflkav hsilrdkhrr qllkteslps sqqyvpfggk rlcalkgarp amsravsaps
     1441 kslgrrrrrl arnrftidsd avsasspeke sqqppgggdt drwveeqfdl aqyeeqddik
     1501 etdilsddde fcesvkgasv drdlqerlqa tsisqrergr ktldshasrm aqlkkqaals
     1561 gingglesas eeviwvrred fapsrklnte i
//
LOCUS       NP_057521                451 aa            linear   PRI 24-DEC-2022
DEFINITION  tubulin gamma-2 chain isoform 2 [Homo sapiens].
ACCESSION   NP_057521
VERSION     NP_057521.1
DBSOURCE    REFSEQ: accession NM_016437.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 451)
  AUTHORS   Draberova E, Sulimenko V, Vinopal S, Sulimenko T, Sladkova V,
            D'Agostino L, Sobol M, Hozak P, Kren L, Katsetos CD and Draber P.
  TITLE     Differential expression of human gamma-tubulin isotypes during
            neuronal development and oxidative stress points to a
            gamma-tubulin-2 prosurvival function
  JOURNAL   FASEB J 31 (5), 1828-1846 (2017)
   PUBMED   28119396
  REMARK    GeneRIF: that in the face of predominant gamma-tubulin-1
            expression, the accumulation of gamma-tubulin-2 in mature neurons
            and neuroblastoma cells during oxidative stress may denote a
            prosurvival role of gamma-tubulin-2 in neurons
REFERENCE   2  (residues 1 to 451)
  AUTHORS   Ohashi T, Yamamoto T, Yamanashi Y and Ohsugi M.
  TITLE     Human TUBG2 gene is expressed as two splice variant mRNA and
            involved in cell growth
  JOURNAL   FEBS Lett 590 (8), 1053-1063 (2016)
   PUBMED   27015882
  REMARK    GeneRIF: expression of gamma-tubulin2 along with gamma-tubulin1 and
            a novel TUBG2 splice variant are identified.
REFERENCE   3  (residues 1 to 451)
  AUTHORS   Maounis NF, Draberova E, Mahera E, Chorti M, Caracciolo V,
            Sulimenko T, Riga D, Trakas N, Emmanouilidou A, Giordano A, Draber
            P and Katsetos CD.
  TITLE     Overexpression of gamma-tubulin in non-small cell lung cancer
  JOURNAL   Histol Histopathol 27 (9), 1183-1194 (2012)
   PUBMED   22806905
  REMARK    GeneRIF: Our results reveal for the first time an increased
            expression of TUBG1 and TUBG2 in lung cancer
REFERENCE   4  (residues 1 to 451)
  AUTHORS   Vinopal S, Cernohorska M, Sulimenko V, Sulimenko T, Vosecka V,
            Flemr M, Draberova E and Draber P.
  TITLE     gamma-Tubulin 2 nucleates microtubules and is downregulated in
            mouse early embryogenesis
  JOURNAL   PLoS One 7 (1), e29919 (2012)
   PUBMED   22235350
  REMARK    GeneRIF: gamma-tubulin 2 is able to nucleate microtubules and
            substitute for gamma-tubulin 1
            Erratum:[PLoS One. 2012;7(6):
            doi/10.1371/annotation/5dd084b1-20e6-4e1f-88e0-dfe05289da08]
REFERENCE   5  (residues 1 to 451)
  AUTHORS   Bharti P, Schliebs W, Schievelbusch T, Neuhaus A, David C, Kock K,
            Herrmann C, Meyer HE, Wiese S, Warscheid B, Theiss C and Erdmann R.
  TITLE     PEX14 is required for microtubule-based peroxisome motility in
            human cells
  JOURNAL   J Cell Sci 124 (Pt 10), 1759-1768 (2011)
   PUBMED   21525035
REFERENCE   6  (residues 1 to 451)
  AUTHORS   Niwa J, Ishigaki S, Doyu M, Suzuki T, Tanaka K and Sobue G.
  TITLE     A novel centrosomal ring-finger protein, dorfin, mediates ubiquitin
            ligase activity
  JOURNAL   Biochem Biophys Res Commun 281 (3), 706-713 (2001)
   PUBMED   11237715
REFERENCE   7  (residues 1 to 451)
  AUTHORS   Herreros L, Rodriguez-Fernandez JL, Brown MC, Alonso-Lebrero JL,
            Cabanas C, Sanchez-Madrid F, Longo N, Turner CE and Sanchez-Mateos
            P.
  TITLE     Paxillin localizes to the lymphocyte microtubule organizing center
            and associates with the microtubule cytoskeleton
  JOURNAL   J Biol Chem 275 (34), 26436-26440 (2000)
   PUBMED   10840040
REFERENCE   8  (residues 1 to 451)
  AUTHORS   Wise DO, Krahe R and Oakley BR.
  TITLE     The gamma-tubulin gene family in humans
  JOURNAL   Genomics 67 (2), 164-170 (2000)
   PUBMED   10903841
REFERENCE   9  (residues 1 to 451)
  AUTHORS   Tassin AM, Celati C, Moudjou M and Bornens M.
  TITLE     Characterization of the human homologue of the yeast spc98p and its
            association with gamma-tubulin
  JOURNAL   J Cell Biol 141 (3), 689-701 (1998)
   PUBMED   9566969
REFERENCE   10 (residues 1 to 451)
  AUTHORS   Hsu HL and Yeh NH.
  TITLE     Dynamic changes of NuMA during the cell cycle and possible
            appearance of a truncated form of NuMA during apoptosis
  JOURNAL   J Cell Sci 109 (Pt 2), 277-288 (1996)
   PUBMED   8838651
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC353745.1 and BC108739.1.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. It encodes
            isoform 2 which has a shorter N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.367929.1,
                                           SRR3476690.1097203.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000251412.8/ ENSP00000251412.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..451
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     Protein         1..451
                     /product="tubulin gamma-2 chain isoform 2"
                     /note="gamma-2-tubulin; tubulin gamma 2 chain"
                     /calculated_mol_wt=50961
     Region          3..435
                     /region_name="gamma_tubulin"
                     /note="The gamma-tubulin family; cd02188"
                     /db_xref="CDD:276957"
     Site            order(3,47,133,252,254,258,261..262,264..265,330..331,
                     333..334,337..338,341,353..354,357..358,430,433..434)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:276957"
     Site            order(11..13,16,102,140,142..146,171,173,207,225,228..229)
                     /site_type="other"
                     /note="nucleotide binding site [chemical binding]"
                     /db_xref="CDD:276957"
     Site            131
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by BRSK1.
                     /evidence=ECO:0000250|UniProtKB:Q8VCK3; propagated from
                     UniProtKB/Swiss-Prot (Q9NRH3.1)"
     CDS             1..451
                     /gene="TUBG2"
                     /coded_by="NM_016437.3:221..1576"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS32658.1"
                     /db_xref="GeneID:27175"
                     /db_xref="HGNC:HGNC:12419"
                     /db_xref="MIM:605785"
ORIGIN      
        1 mpreiitlql gqcgnqigfe fwkqlcaehg ispegiveef ategtdrkdv ffyqaddehy
       61 ipravlldle prvihsilns pyaklynpen iylsehggga gnnwasgfsq gekihedifd
      121 iidreadgsd slegfvlchs iaggtgsglg syllerlndr ypkklvqtys vfpyqdemsd
      181 vvvqpynsll tlkrltqnad cvvvldntal nriatdrlhi qnpsfsqinq lvstimsast
      241 ttlrypgymn ndligliasl iptprlhflm tgytplttdq svasvrkttv ldvmrrllqp
      301 knvmvstgrd rqtnhcyiai lniiqgevdp tqvhkslqri rerklanfip wgpasiqval
      361 srkspylpsa hrvsglmman htsisslfes scqqfdklrk rdafleqfrk edmfkdnfde
      421 mdrsrevvqe lideyhaatq pdyiswgtqe q
//
LOCUS       NP_001341927             266 aa            linear   PRI 25-DEC-2022
DEFINITION  solute carrier family 35 member E3 isoform 3 [Homo sapiens].
ACCESSION   NP_001341927 XP_005269063
VERSION     NP_001341927.1
DBSOURCE    REFSEQ: accession NM_001354998.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 266)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 266)
  AUTHORS   Shivakumar M, Lee Y, Bang L, Garg T, Sohn KA and Kim D.
  TITLE     Identification of epigenetic interactions between miRNA and DNA
            methylation associated with gene expression as potential prognostic
            markers in bladder cancer
  JOURNAL   BMC Med Genomics 10 (Suppl 1), 30 (2017)
   PUBMED   28589857
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 266)
  AUTHORS   Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura
            Y and Kamatani N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   4  (residues 1 to 266)
  AUTHORS   Hodgson JG, Yeh RF, Ray A, Wang NJ, Smirnov I, Yu M, Hariono S,
            Silber J, Feiler HS, Gray JW, Spellman PT, Vandenberg SR, Berger MS
            and James CD.
  TITLE     Comparative analyses of gene copy number and mRNA expression in
            glioblastoma multiforme tumors and xenografts
  JOURNAL   Neuro Oncol 11 (5), 477-487 (2009)
   PUBMED   19139420
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC124890.8.
            On Sep 1, 2017 this sequence version replaced XP_005269063.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.10073.1,
                                           SRR1163657.319095.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..266
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q15"
     Protein         1..266
                     /product="solute carrier family 35 member E3 isoform 3"
                     /note="solute carrier family 35, member E2; bladder
                     cancer-overexpressed gene 1 protein"
                     /calculated_mol_wt=29519
     Region          16..253
                     /region_name="TPT"
                     /note="Triose-phosphate Transporter family; cl26744"
                     /db_xref="CDD:452667"
     Site            17..37
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z769.1)"
     Site            40..60
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z769.1)"
     Site            77..97
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z769.1)"
     Site            126..143
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z769.1)"
     Site            153..173
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z769.1)"
     Site            187..206
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z769.1)"
     Site            225..245
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z769.1)"
     CDS             1..266
                     /gene="SLC35E3"
                     /gene_synonym="BLOV1"
                     /coded_by="NM_001354998.2:203..1003"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:55508"
                     /db_xref="HGNC:HGNC:20864"
ORIGIN      
        1 mallvdrvrg hwriaagllf nllvsicivf lnkwiyvyhg fpnmsltlvh fvvtwlglyi
       61 cqkldifapk slppsrllll alsfcgfvvf tnlslqnnti gtyqlakamt tpviiaiqtf
      121 cyqktfstri qltlipitlg vilnsyydvk fnflgmvfaa lgvlvtslyq vwvgakqhel
      181 qvnsmqllyy qapmssamll vavpffepvf geggifgpws vsallmvlls gviafmvnls
      241 iywiigntsp vtqemkslag chgsrl
//
LOCUS       NP_001354901            1932 aa            linear   PRI 25-DEC-2022
DEFINITION  autophagy-related protein 2 homolog A isoform 3 [Homo sapiens].
ACCESSION   NP_001354901 XP_005273906
VERSION     NP_001354901.1
DBSOURCE    REFSEQ: accession NM_001367972.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1932)
  AUTHORS   Ghanbarpour A, Valverde DP, Melia TJ and Reinisch KM.
  TITLE     A model for a partnership of lipid transfer proteins and
            scramblases in membrane expansion and organelle biogenesis
  JOURNAL   Proc Natl Acad Sci U S A 118 (16) (2021)
   PUBMED   33850023
  REMARK    GeneRIF: A model for a partnership of lipid transfer proteins and
            scramblases in membrane expansion and organelle biogenesis.
REFERENCE   2  (residues 1 to 1932)
  AUTHORS   Li Q, Ni Y, Zhang L, Jiang R, Xu J, Yang H, Hu Y, Qiu J, Pu L, Tang
            J and Wang X.
  TITLE     HIF-1alpha-induced expression of m6A reader YTHDF1 drives
            hypoxia-induced autophagy and malignancy of hepatocellular
            carcinoma by promoting ATG2A and ATG14 translation
  JOURNAL   Signal Transduct Target Ther 6 (1), 76 (2021)
   PUBMED   33619246
  REMARK    GeneRIF: HIF-1alpha-induced expression of m6A reader YTHDF1 drives
            hypoxia-induced autophagy and malignancy of hepatocellular
            carcinoma by promoting ATG2A and ATG14 translation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1932)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 1932)
  AUTHORS   Bozic M, van den Bekerom L, Milne BA, Goodman N, Roberston L,
            Prescott AR, Macartney TJ, Dawe N and McEwan DG.
  TITLE     A conserved ATG2-GABARAP family interaction is critical for
            phagophore formation
  JOURNAL   EMBO Rep 21 (3), e48412 (2020)
   PUBMED   32009292
  REMARK    GeneRIF: A conserved ATG2-GABARAP family interaction is critical
            for phagophore formation.
REFERENCE   5  (residues 1 to 1932)
  AUTHORS   Tang Z, Takahashi Y, He H, Hattori T, Chen C, Liang X, Chen H,
            Young MM and Wang HG.
  TITLE     TOM40 Targets Atg2 to Mitochondria-Associated ER Membranes for
            Phagophore Expansion
  JOURNAL   Cell Rep 28 (7), 1744-1757 (2019)
   PUBMED   31412244
REFERENCE   6  (residues 1 to 1932)
  AUTHORS   Yamada Y, Sakuma J, Takeuchi I, Yasukochi Y, Kato K, Oguri M,
            Fujimaki T, Horibe H, Muramatsu M, Sawabe M, Fujiwara Y, Taniguchi
            Y, Obuchi S, Kawai H, Shinkai S, Mori S, Arai T and Tanaka M.
  TITLE     Identification of C21orf59 and ATG2A as novel determinants of renal
            function-related traits in Japanese by exome-wide association
            studies
  JOURNAL   Oncotarget 8 (28), 45259-45273 (2017)
   PUBMED   28410202
  REMARK    GeneRIF: Among polymorphisms identified in the present study,
            rs76974938 [C/T (D67N)] of C21orf59 and rs188780113 [G/A (R478C)]
            of ATG2A may be novel determinants of estimated glomerular
            filtration rate and chronic kidney disease or of the serum
            concentration of uric acid, respectively.
REFERENCE   7  (residues 1 to 1932)
  AUTHORS   Pfisterer SG, Bakula D, Frickey T, Cezanne A, Brigger D, Tschan MP,
            Robenek H and Proikas-Cezanne T.
  TITLE     Lipid droplet and early autophagosomal membrane targeting of Atg2A
            and Atg14L in human tumor cells
  JOURNAL   J Lipid Res 55 (7), 1267-1278 (2014)
   PUBMED   24776541
  REMARK    GeneRIF: These data provide evidence for additional roles of Atg2A
            and Atg14L in the formation of early autophagosomal membranes and
            also in lipid metabolism.
REFERENCE   8  (residues 1 to 1932)
  AUTHORS   Velikkakath AK, Nishimura T, Oita E, Ishihara N and Mizushima N.
  TITLE     Mammalian Atg2 proteins are essential for autophagosome formation
            and important for regulation of size and distribution of lipid
            droplets
  JOURNAL   Mol Biol Cell 23 (5), 896-909 (2012)
   PUBMED   22219374
  REMARK    GeneRIF: Depletion of both Atg2A and Atg2B causes clustering of
            enlarged lipid droplets in an autophagy-independent manner. These
            data suggest that mammalian Atg2 proteins function both in
            autophagosome formation and regulation of lipid droplet morphology
            and dispersion.
REFERENCE   9  (residues 1 to 1932)
  AUTHORS   Romanyuk D, Polak A, Maleszewska A, Sienko M, Grynberg M and
            Zoladek T.
  TITLE     Human hAtg2A protein expressed in yeast is recruited to
            preautophagosomal structure but does not complement autophagy
            defects of atg2Delta strain
  JOURNAL   Acta Biochim Pol 58 (3), 365-374 (2011)
   PUBMED   21887408
  REMARK    GeneRIF: human hAtg2A can not function in autophagy in yeast,
            however, it is recruited to the preautophagosomal structure
REFERENCE   10 (residues 1 to 1932)
  AUTHORS   Guru,S.C., Agarwal,S.K., Manickam,P., Olufemi,S.E., Crabtree,J.S.,
            Weisemann,J.M., Kester,M.B., Kim,Y.S., Wang,Y., Emmert-Buck,M.R.,
            Liotta,L.A., Spiegel,A.M., Boguski,M.S., Roe,B.A., Collins,F.S.,
            Marx,S.J., Burns,L. and Chandrasekharappa,S.C.
  TITLE     A transcript map for the 2.8-Mb region containing the multiple
            endocrine neoplasia type 1 locus
  JOURNAL   Genome Res 7 (7), 725-735 (1997)
   PUBMED   9253601
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001187.5.
            On Jan 4, 2019 this sequence version replaced XP_005273906.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1932
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     Protein         1..1932
                     /product="autophagy-related protein 2 homolog A isoform 3"
                     /note="autophagy-related protein 2 homolog A; ATG2
                     autophagy related 2 homolog A; bridge-like lipid transfer
                     protein family member 4A"
                     /calculated_mol_wt=212095
     Region          14..108
                     /region_name="Chorein_N"
                     /note="N-terminal region of Chorein or VPS13; pfam12624"
                     /db_xref="CDD:432678"
     Site            765
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q2TAZ0.3)"
     Site            878
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6P4T0; propagated from
                     UniProtKB/Swiss-Prot (Q2TAZ0.3)"
     Site            884
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6P4T0; propagated from
                     UniProtKB/Swiss-Prot (Q2TAZ0.3)"
     Site            886
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6P4T0; propagated from
                     UniProtKB/Swiss-Prot (Q2TAZ0.3)"
     Site            1260
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6P4T0; propagated from
                     UniProtKB/Swiss-Prot (Q2TAZ0.3)"
     Site            1295
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q2TAZ0.3)"
     Site            1303
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q2TAZ0.3)"
     Region          1309..1353
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2TAZ0.3)"
     Region          1352..1398
                     /region_name="WIPI-interacting.
                     /evidence=ECO:0000269|PubMed:32483132"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2TAZ0.3)"
     Site            1396
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q2TAZ0.3)"
     Region          1432..1470
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2TAZ0.3)"
     Region          1608..1651
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2TAZ0.3)"
     Region          1833..1926
                     /region_name="ATG_C"
                     /note="Autophagy-related protein C terminal domain;
                     pfam09333"
                     /db_xref="CDD:430534"
     CDS             1..1932
                     /gene="ATG2A"
                     /gene_synonym="BLTP4A"
                     /coded_by="NM_001367972.1:75..5873"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:23130"
                     /db_xref="HGNC:HGNC:29028"
                     /db_xref="MIM:616225"
ORIGIN      
        1 msrwlwpwsn cvkervcryl lhhylghffq ehlsldqlsl dlykgsvalr dihleiwsvn
       61 evlesmespl elvegfvgsi evavpwaall tdhctvrvsg lqltlqprrg papgaadsqs
      121 wascmttslq laqeclrdgl pepseppqpl eglemfaqti etvlrrikvt fldtvvrveh
      181 spgdgergva vevrvqrley cdeavrdpsq appvdvhqpp aflhkllqla gvrlhyeelp
      241 aqeeppeppl qigscsgyme lmvklkqnea fpgpklevag qlgslhlllt prqlqqlqel
      301 lsavsltdhe gladklnksr plgaedlwli eqdlnqqlqa gavaeplspd pltnpllnld
      361 ntdlffsmag ltssvasals elslsdvdla ssvrsdmasr rlsaqahpag kmapnplldt
      421 mrpdsllkmt lggvtltllq tsapssgppd lathfftefd atkdgpfgsr dfhhlrprfq
      481 racpcshvrl tgtavqlswe lrtgsrgrrt tsmevhfgql evleclwprg tsepeyteil
      541 tfpgtlgsqa sarpcahlrh tqilrrvpks rprrsvachc hselaldlan fqadvelgal
      601 drlaallrla tvpaeppagl lteplpameq qtvfrlsapr atlrlrfpia dlrpepdpwa
      661 gqavraeqlr lelsepqfrs elssgpgppv pthleltcsd lhgiyedggk ppvpclrvsk
      721 aldpkstgrk yflpqvvvtv npqssstqwe vapekgeele lsvespcelr epepspfssk
      781 rtmyeteemv ipgdpeemrt fqsrtlalsr cslevilpsv hiflpskevy esiynrinnd
      841 llmwepadll ptpdpaaqps gfpgpsgfwh dsfkmcksaf kldsdsdded ahffsvgasg
      901 gpqaaapeap slhlqstfst lvtvlkgrit alcetkdegg krleavhgel vldmehgtlf
      961 svsqycgqpg lgyfcleaek atlyhraavd dyplpshldl psfappaqla ptiypseegv
     1021 tergasgrkg qgrgphmlst avrihldphk nvkeflvtlr lhkatlrhym alpeqswhsq
     1081 llefldvldd pvlgylpptv itilhthlfs csvdyrplyl pvrvlitaet ftlssniimd
     1141 tstfllrfil ddsalylsdk cevetldlrr dyvcvldvdl lelviktwkg stegklsqpl
     1201 felrcsnnvv hvhscadsca llvnllqyvm stgdlhpppr ppspteiagq kvqlsespas
     1261 lpscppveta linqrdlada lldterslre laqpsgghlp qaspisvylf pgersgappp
     1321 sppvggpags lgscseeked ereeegdgdt ldsdefcild apglgipprd gepvvtqlhp
     1381 gpivvrdgyf srpigstdll rapahfpvps trvvlrevsl vwhlyggrdf gphpghrart
     1441 glsgprssps rcsgpnrpqn swrtqggsgr qhhvlmeiql skvsfqhevy paepatgpaa
     1501 psqeleerpl srqvfivqel evrdrlassq inkflylhts ermprrahsn mltikalhva
     1561 pttnlggpec clrvslmplr lnvdqdalff lkdfftslva ginpvvpget saearpetra
     1621 qpssplegqa egvettgsqe apggghspsp pdqqpiyfre frftsevpiw ldyhgkhvtm
     1681 dqvgtfagll iglaqlncse lklkrlccrh gllgvdkvlg yalnewlqdi rknqlpgllg
     1741 gvgpmhsvvq lfqgfrdllw lpieqyrkdg rlmrglqrga asfgsstasa alelsnrlvq
     1801 aiqataetvy dilspaapvs rslqdkrsar rlrrgqqpad lregvakayd tvregildta
     1861 qticdvasrg heqkgltgav ggvirqlppt vvkplilate atssllggmr nqivpdahkd
     1921 halkwrsdsa qd
//
LOCUS       NP_005094                392 aa            linear   PRI 25-DEC-2022
DEFINITION  fasciculation and elongation protein zeta-1 isoform 1 [Homo
            sapiens].
ACCESSION   NP_005094
VERSION     NP_005094.1
DBSOURCE    REFSEQ: accession NM_005103.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 392)
  AUTHORS   Malikov V, Meade N, Simons LM, Hultquist JF and Naghavi MH.
  TITLE     FEZ1 phosphorylation regulates HSPA8 localization and
            interferon-stimulated gene expression
  JOURNAL   Cell Rep 38 (7), 110396 (2022)
   PUBMED   35172151
  REMARK    GeneRIF: FEZ1 phosphorylation regulates HSPA8 localization and
            interferon-stimulated gene expression.
REFERENCE   2  (residues 1 to 392)
  AUTHORS   Gunaseelan S, Wang Z, Tong VKJ, Ming SWS, Razar RBBA, Srimasorn S,
            Ong WY, Lim KL and Chua JJE.
  TITLE     Loss of FEZ1, a gene deleted in Jacobsen syndrome, causes
            locomotion defects and early mortality by impairing motor neuron
            development
  JOURNAL   Hum Mol Genet 30 (1), 5-20 (2021)
   PUBMED   33395696
  REMARK    GeneRIF: Loss of FEZ1, a gene deleted in Jacobsen syndrome, causes
            locomotion defects and early mortality by impairing motor neuron
            development.
REFERENCE   3  (residues 1 to 392)
  AUTHORS   Huang Y, Liu G, Ma H, Tian Y, Huang C, Liu F, Jia Y and Jiang D.
  TITLE     Plasma lncRNA FEZF1-AS1 as a potential biomarker for diagnosis of
            non-small-cell lung carcinoma
  JOURNAL   Medicine (Baltimore) 99 (26), e21019 (2020)
   PUBMED   32590821
  REMARK    GeneRIF: Diagnosis of numerous cancers has been closely linked to
            the expression of certain long non-coding RNAs. This study aimed to
            evaluate levels of plasma FEZ family zinc finger 1 antisense RNA 1
            (FEZF1-AS1) relative to non-small-cell lung carcinoma (NSCLC)
            diagnosis.
REFERENCE   4  (residues 1 to 392)
  AUTHORS   Huang PT, Summers BJ, Xu C, Perilla JR, Malikov V, Naghavi MH and
            Xiong Y.
  TITLE     FEZ1 Is Recruited to a Conserved Cofactor Site on Capsid to Promote
            HIV-1 Trafficking
  JOURNAL   Cell Rep 28 (9), 2373-2385 (2019)
   PUBMED   31422020
  REMARK    GeneRIF: FEZ1 Is Recruited to a Conserved Cofactor Site on Capsid
            to Promote HIV-1 Trafficking.
REFERENCE   5  (residues 1 to 392)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (residues 1 to 392)
  AUTHORS   Surpili MJ, Delben TM and Kobarg J.
  TITLE     Identification of proteins that interact with the central
            coiled-coil region of the human protein kinase NEK1
  JOURNAL   Biochemistry 42 (51), 15369-15376 (2003)
   PUBMED   14690447
REFERENCE   7  (residues 1 to 392)
  AUTHORS   Miyoshi K, Honda A, Baba K, Taniguchi M, Oono K, Fujita T, Kuroda
            S, Katayama T and Tohyama M.
  TITLE     Disrupted-In-Schizophrenia 1, a candidate gene for schizophrenia,
            participates in neurite outgrowth
  JOURNAL   Mol Psychiatry 8 (7), 685-694 (2003)
   PUBMED   12874605
  REMARK    GeneRIF: FEZ1 is an interacting partner of DISC1. The interaction
            of DISC1 and FEZ1 is associated with direct FEZ1 binding to
            F-actin.
REFERENCE   8  (residues 1 to 392)
  AUTHORS   Whitehouse C, Chambers J, Howe K, Cobourne M, Sharpe P and Solomon
            E.
  TITLE     NBR1 interacts with fasciculation and elongation protein zeta-1
            (FEZ1) and calcium and integrin binding protein (CIB) and shows
            developmentally restricted expression in the neural tube
  JOURNAL   Eur J Biochem 269 (2), 538-545 (2002)
   PUBMED   11856312
  REMARK    GeneRIF: interacts with NBR1 protein
REFERENCE   9  (residues 1 to 392)
  AUTHORS   Kuroda S, Nakagawa N, Tokunaga C, Tatematsu K and Tanizawa K.
  TITLE     Mammalian homologue of the Caenorhabditis elegans UNC-76 protein
            involved in axonal outgrowth is a protein kinase C zeta-interacting
            protein
  JOURNAL   J Cell Biol 144 (3), 403-411 (1999)
   PUBMED   9971736
REFERENCE   10 (residues 1 to 392)
  AUTHORS   Bloom L and Horvitz HR.
  TITLE     The Caenorhabditis elegans gene unc-76 and its human homologs
            define a new gene family involved in axonal outgrowth and
            fasciculation
  JOURNAL   Proc Natl Acad Sci U S A 94 (7), 3414-3419 (1997)
   PUBMED   9096408
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA697171.1, BC009545.1,
            BM663785.1 and AP000708.5.
            
            Summary: This gene is an ortholog of the C. elegans unc-76 gene,
            which is necessary for normal axonal bundling and elongation within
            axon bundles. Expression of this gene in C. elegans unc-76 mutants
            can restore to the mutants partial locomotion and axonal
            fasciculation, suggesting that it also functions in axonal
            outgrowth. The N-terminal half of the gene product is highly
            acidic. Alternatively spliced transcript variants encoding
            different isoforms of this protein have been described. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the full-length
            isoform (1), which has a longer C-terminal end compared to isoform
            2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.98314.1,
                                           SRR1803615.25693.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278919.8/ ENSP00000278919.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..392
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     Protein         1..392
                     /product="fasciculation and elongation protein zeta-1
                     isoform 1"
                     /note="zygin I; zygin-1"
                     /calculated_mol_wt=44988
     Region          1..37
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99689.1)"
     Region          58..297
                     /region_name="FEZ"
                     /note="FEZ-like protein; pfam07763"
                     /db_xref="CDD:429645"
     Site            58
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K0X8; propagated from
                     UniProtKB/Swiss-Prot (Q99689.1)"
     Region          175..198
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99689.1)"
     Site            298
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97577; propagated from
                     UniProtKB/Swiss-Prot (Q99689.1)"
     Site            316
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K0X8; propagated from
                     UniProtKB/Swiss-Prot (Q99689.1)"
     CDS             1..392
                     /gene="FEZ1"
                     /gene_synonym="UNC-76"
                     /coded_by="NM_005103.5:191..1369"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS31716.1"
                     /db_xref="GeneID:9638"
                     /db_xref="HGNC:HGNC:3659"
                     /db_xref="MIM:604825"
ORIGIN      
        1 meaplvslde efedlrpscs edpeekpqcf ygssphhled pslselenfs seiisfksme
       61 dlvnefdekl nvcfrnynak tenlapvknq lqiqeeeetl qdeevwdalt dnyipslsed
      121 wrdpniealn gncsdteihe keeeefneks endsgineep lltadqviee ieemmqnspd
      181 peeeeevlee edggetssqa dsvllqemqa ltqtfnnnws yeglrhmsgs eltelldqve
      241 gairdfseel vqqlarrdel efekevknsf itvlievqnk qkeqrelmkk rrkekglslq
      301 ssriekgnqm plkrfsmegi snilqsgirq tfgssgtdkq ylntvipyek kasppsvedl
      361 qmltnilfam kednekvptl ltdyilkvlc pt
//
LOCUS       NP_001354550             538 aa            linear   PRI 25-DEC-2022
DEFINITION  katanin p60 ATPase-containing subunit A-like 2 isoform 13 [Homo
            sapiens].
ACCESSION   NP_001354550
VERSION     NP_001354550.1
DBSOURCE    REFSEQ: accession NM_001367621.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 538)
  AUTHORS   Wei X, Liu W, Zhu X, Li Y, Zhang X, Chen J, Isachenko V, Sha Y and
            Lu Z.
  TITLE     Biallelic mutations in KATNAL2 cause male infertility due to
            oligo-astheno-teratozoospermia
  JOURNAL   Clin Genet 100 (4), 376-385 (2021)
   PUBMED   34096614
  REMARK    GeneRIF: Biallelic mutations in KATNAL2 cause male infertility due
            to oligo-astheno-teratozoospermia.
REFERENCE   2  (residues 1 to 538)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 538)
  AUTHORS   Jiang K, Rezabkova L, Hua S, Liu Q, Capitani G, Altelaar AFM, Heck
            AJR, Kammerer RA, Steinmetz MO and Akhmanova A.
  TITLE     Microtubule minus-end regulation at spindle poles by an
            ASPM-katanin complex
  JOURNAL   Nat Cell Biol 19 (5), 480-492 (2017)
   PUBMED   28436967
  REMARK    Erratum:[Nat Cell Biol. 2017 Jun 29;19(7):873. PMID: 28659643]
REFERENCE   4  (residues 1 to 538)
  AUTHORS   Williams MR, Fricano-Kugler CJ, Getz SA, Skelton PD, Lee J, Rizzuto
            CP, Geller JS, Li M and Luikart BW.
  TITLE     A Retroviral CRISPR-Cas9 System for Cellular Autism-Associated
            Phenotype Discovery in Developing Neurons
  JOURNAL   Sci Rep 6, 25611 (2016)
   PUBMED   27161796
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 538)
  AUTHORS   Cheung K, Senese S, Kuang J, Bui N, Ongpipattanakul C, Gholkar A,
            Cohn W, Capri J, Whitelegge JP and Torres JZ.
  TITLE     Proteomic Analysis of the Mammalian Katanin Family of
            Microtubule-severing Enzymes Defines Katanin p80 subunit B-like 1
            (KATNBL1) as a Regulator of Mammalian Katanin Microtubule-severing
  JOURNAL   Mol Cell Proteomics 15 (5), 1658-1669 (2016)
   PUBMED   26929214
REFERENCE   6  (residues 1 to 538)
  AUTHORS   Ververis A, Christodoulou A, Christoforou M, Kamilari C, Lederer CW
            and Santama N.
  TITLE     A novel family of katanin-like 2 protein isoforms (KATNAL2),
            interacting with nucleotide-binding proteins Nubp1 and Nubp2, are
            key regulators of different MT-based processes in mammalian cells
  JOURNAL   Cell Mol Life Sci 73 (1), 163-184 (2016)
   PUBMED   26153462
REFERENCE   7  (residues 1 to 538)
  AUTHORS   Ropers HH and Wienker T.
  TITLE     Penetrance of pathogenic mutations in haploinsufficient genes for
            intellectual disability and related disorders
  JOURNAL   Eur J Med Genet 58 (12), 715-718 (2015)
   PUBMED   26506440
REFERENCE   8  (residues 1 to 538)
  AUTHORS   Lendvai A, Johannes F, Grimm C, Eijsink JJ, Wardenaar R, Volders
            HH, Klip HG, Hollema H, Jansen RC, Schuuring E, Wisman GB and van
            der Zee AG.
  TITLE     Genome-wide methylation profiling identifies hypermethylated
            biomarkers in high-grade cervical intraepithelial neoplasia
  JOURNAL   Epigenetics 7 (11), 1268-1278 (2012)
   PUBMED   23018867
  REMARK    GeneRIF: KATNAL2 methylation correlates with severity of cervical
            intraepithelial neoplasia
REFERENCE   9  (residues 1 to 538)
  AUTHORS   Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF,
            Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford
            EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T,
            Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U,
            Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim
            E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T,
            Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR,
            Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD,
            Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD,
            Sutcliffe JS and Daly MJ.
  TITLE     Patterns and rates of exonic de novo mutations in autism spectrum
            disorders
  JOURNAL   Nature 485 (7397), 242-245 (2012)
   PUBMED   22495311
  REMARK    GeneRIF: results from de novo events and a large parallel
            case-control study provide strong evidence in favour of CHD8 and
            KATNAL2 as genuine autism risk factors
            Publication Status: Online-Only
REFERENCE   10 (residues 1 to 538)
  AUTHORS   de Moor MH, Costa PT, Terracciano A, Krueger RF, de Geus EJ,
            Toshiko T, Penninx BW, Esko T, Madden PA, Derringer J, Amin N,
            Willemsen G, Hottenga JJ, Distel MA, Uda M, Sanna S, Spinhoven P,
            Hartman CA, Sullivan P, Realo A, Allik J, Heath AC, Pergadia ML,
            Agrawal A, Lin P, Grucza R, Nutile T, Ciullo M, Rujescu D, Giegling
            I, Konte B, Widen E, Cousminer DL, Eriksson JG, Palotie A, Peltonen
            L, Luciano M, Tenesa A, Davies G, Lopez LM, Hansell NK, Medland SE,
            Ferrucci L, Schlessinger D, Montgomery GW, Wright MJ, Aulchenko YS,
            Janssens AC, Oostra BA, Metspalu A, Abecasis GR, Deary IJ,
            Raikkonen K, Bierut LJ, Martin NG, van Duijn CM and Boomsma DI.
  TITLE     Meta-analysis of genome-wide association studies for personality
  JOURNAL   Mol Psychiatry 17 (3), 337-349 (2012)
   PUBMED   21173776
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090373.11 and AC012254.12.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.192271.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..538
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     Protein         1..538
                     /product="katanin p60 ATPase-containing subunit A-like 2
                     isoform 13"
                     /EC_number="5.6.1.1"
                     /note="katanin p60 ATPase-containing subunit A-like 2; p60
                     katanin-like 2; katanin p60 subunit A like 2; katanin
                     catalytic subunit A like 2"
                     /calculated_mol_wt=61122
     Region          25..55
                     /region_name="LisH"
                     /note="Lissencephaly type-1-like homology motif;
                     smart00667"
                     /db_xref="CDD:128913"
     Region          94..147
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYT4.3)"
     Region          256..420
                     /region_name="RecA-like_VPS4-like"
                     /note="ATPase domain of VPS4, ATAD1, K, KTNA1, Spastin,
                     FIGL-1 and similar ATPase domains; cd19509"
                     /db_xref="CDD:410917"
     Site            order(256..259,296..302)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:410917"
     Site            order(264,268,272,276,321,325..326,354,374..375,378,382,
                     408,412..413,415)
                     /site_type="other"
                     /note="hexamer interface [polypeptide binding]"
                     /db_xref="CDD:410917"
     Region          450..494
                     /region_name="AAA_lid_3"
                     /note="AAA+ lid domain; pfam17862"
                     /db_xref="CDD:436099"
     CDS             1..538
                     /gene="KATNAL2"
                     /coded_by="NM_001367621.1:39..1655"
                     /note="isoform 13 is encoded by transcript variant 14"
                     /db_xref="CCDS:CCDS92456.1"
                     /db_xref="GeneID:83473"
                     /db_xref="HGNC:HGNC:25387"
                     /db_xref="MIM:614697"
ORIGIN      
        1 melsyqtlkf thqareacem rtearrknll ilishyltqe gyidtanale qetklglrrf
       61 evcdnidlet ilmeyesyyf vkfqkypkiv kkssdtaenn lpqrsrgktr rmmndscqnl
      121 pkinqqrprs kttagktgdt kslnkehpnq evvdntrles anfglhisri rkdsgeenah
      181 prrgqiidfq glltdaikga tselalntfd hnpdpserll kplsafigmn semrelaavv
      241 srdiylhnpn ikwndiigld aakqlvkeav vypirypqlf tgilspwkgl llygppgtgk
      301 tllakavate ckttffnisa stivskwrgd seklvrvlfe laryhapsti fldelesvms
      361 qrgtasggeh egslrmktel lvqmdglars edlvfvlaas nlpweldcam lrrlekrilv
      421 dlpsrearqa miyhwlppvs ksralelhte leysvlsqet egysgsdikl vcreaamrpv
      481 rkifdalenh qsessdlpri qldivttadf ldvlthtkps aknlaqrysd wqrefesv
//
LOCUS       NP_001304121             257 aa            linear   PRI 25-DEC-2022
DEFINITION  vacuolar-sorting protein SNF8 isoform 2 [Homo sapiens].
ACCESSION   NP_001304121
VERSION     NP_001304121.1
DBSOURCE    REFSEQ: accession NM_001317192.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 257)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 257)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 257)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 257)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (residues 1 to 257)
  AUTHORS   Kumthip K, Yang D, Li NL, Zhang Y, Fan M, Sethuraman A and Li K.
  TITLE     Pivotal role for the ESCRT-II complex subunit EAP30/SNF8 in
            IRF3-dependent innate antiviral defense
  JOURNAL   PLoS Pathog 13 (10), e1006713 (2017)
   PUBMED   29084253
  REMARK    GeneRIF: data describe an unappreciated role for EAP30 in
            IRF3-dependent innate antiviral response in the nucleus.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 257)
  AUTHORS   Martin-Serrano J, Yarovoy A, Perez-Caballero D and Bieniasz PD.
  TITLE     Divergent retroviral late-budding domains recruit vacuolar protein
            sorting factors by using alternative adaptor proteins
  JOURNAL   Proc Natl Acad Sci U S A 100 (21), 12414-12419 (2003)
   PUBMED   14519844
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2003 Dec 9;100(25):152845.
            Yaravoy, A [corrected to Yarovoy, A]]
REFERENCE   7  (residues 1 to 257)
  AUTHORS   von Schwedler UK, Stuchell M, Muller B, Ward DM, Chung HY, Morita
            E, Wang HE, Davis T, He GP, Cimbora DM, Scott A, Krausslich HG,
            Kaplan J, Morham SG and Sundquist WI.
  TITLE     The protein network of HIV budding
  JOURNAL   Cell 114 (6), 701-713 (2003)
   PUBMED   14505570
REFERENCE   8  (residues 1 to 257)
  AUTHORS   Kamura T, Burian D, Khalili H, Schmidt SL, Sato S, Liu WJ, Conrad
            MN, Conaway RC, Conaway JW and Shilatifard A.
  TITLE     Cloning and characterization of ELL-associated proteins EAP45 and
            EAP20. a role for yeast EAP-like proteins in regulation of gene
            expression by glucose
  JOURNAL   J Biol Chem 276 (19), 16528-16533 (2001)
   PUBMED   11278625
REFERENCE   9  (residues 1 to 257)
  AUTHORS   Lippincott-Schwartz J, Roberts TH and Hirschberg K.
  TITLE     Secretory protein trafficking and organelle dynamics in living
            cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
REFERENCE   10 (residues 1 to 257)
  AUTHORS   Schmidt AE, Miller T, Schmidt SL, Shiekhattar R and Shilatifard A.
  TITLE     Cloning and characterization of the EAP30 subunit of the ELL
            complex that confers derepression of transcription by RNA
            polymerase II
  JOURNAL   J Biol Chem 274 (31), 21981-21985 (1999)
   PUBMED   10419521
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP342490.1, BC038830.1,
            BC008976.1 and AC091133.11.
            
            Summary: The protein encoded by this gene is a component of the
            endosomal sorting complex required for transport II (ESCRT-II),
            which regulates the movement of ubiquitinylated transmembrane
            proteins to the lysosome for degradation. This complex also
            interacts with the RNA polymerase II elongation factor (ELL) to
            overcome the repressive effects of ELL on RNA polymerase II
            activity. Several transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction in the 3' end compared to variant 1. The resulting
            isoform (2) has the same N- and C-termini but is 1 aa shorter
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138525.200414.1,
                                           SRR1163657.460277.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..257
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     Protein         1..257
                     /product="vacuolar-sorting protein SNF8 isoform 2"
                     /note="EAP30 subunit of ELL complex; vacuolar-sorting
                     protein SNF8; ESCRT-II complex subunit VPS22;
                     ELL-associated protein of 30 kDa; SNF8, ESCRT-II complex
                     subunit, homolog"
                     /calculated_mol_wt=28605
     Site            4
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q96H20.1)"
     Region          6..224
                     /region_name="EAP30"
                     /note="EAP30/Vps36 family; pfam04157"
                     /db_xref="CDD:427752"
     CDS             1..257
                     /gene="SNF8"
                     /gene_synonym="Dot3; EAP30; VPS22"
                     /coded_by="NM_001317192.2:109..882"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS82156.1"
                     /db_xref="GeneID:11267"
                     /db_xref="HGNC:HGNC:17028"
                     /db_xref="MIM:610904"
ORIGIN      
        1 mhrrgvgaga iakkklaeak ykergtvlae dqlaqmskql dmfktnleef askhkqeirk
       61 npefrvqfqd mcatigvdpl asgkgfwsem lgvgdfyyel gvqiievcla lkhrngglit
      121 leelhqqvlk grgkfaqdvs qddliraikk lkalgtgfgi ipvggtyliq svpaelnmdh
      181 tvvlqlaeng yvtvseikas lkweterarq vlehllkegl awldlqapge ahywlpalft
      241 dlysqeitae earealp
//
LOCUS       NP_872296                799 aa            linear   PRI 25-DEC-2022
DEFINITION  zinc finger protein 227 isoform a [Homo sapiens].
ACCESSION   NP_872296
VERSION     NP_872296.1
DBSOURCE    REFSEQ: accession NM_182490.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 799)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 799)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 799)
  AUTHORS   Tompkins V, Hagen J, Zediak VP and Quelle DE.
  TITLE     Identification of novel ARF binding proteins by two-hybrid
            screening
  JOURNAL   Cell Cycle 5 (6), 641-646 (2006)
   PUBMED   16582619
REFERENCE   4  (residues 1 to 799)
  AUTHORS   Shannon M, Hamilton AT, Gordon L, Branscomb E and Stubbs L.
  TITLE     Differential expansion of zinc-finger transcription factor loci in
            homologous human and mouse gene clusters
  JOURNAL   Genome Res 13 (6A), 1097-1110 (2003)
   PUBMED   12743021
REFERENCE   5  (residues 1 to 799)
  AUTHORS   Abrink M, Aveskogh M and Hellman L.
  TITLE     Isolation of cDNA clones for 42 different Kruppel-related zinc
            finger proteins expressed in the human monoblast cell line U-937
  JOURNAL   DNA Cell Biol 14 (2), 125-136 (1995)
   PUBMED   7865130
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA494064.1, BC047570.1 and AL833012.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Both variants 1 and 2 encode the same
            isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC047570.1, SRR1803616.105700.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313040.12/ ENSP00000321049.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..799
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.31"
     Protein         1..799
                     /product="zinc finger protein 227 isoform a"
                     /calculated_mol_wt=91902
     Region          23..83
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          326..346
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          342..363
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          354..374
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(359,361,363,365..366,369..370,373,387,389,393..394,
                     397..398,401,415,417,419,421..422,425..426,429)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          382..402
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          406..779
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          410..430
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          438..458
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          466..486
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          494..514
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          522..542
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(527,529,531,533..534,537..538,541,555,557,561..562,
                     565..566,569,583,585,587,589..590,593..594,597)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          550..570
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          578..598
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          606..626
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          634..654
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          662..682
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          690..710
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          718..738
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          746..766
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          774..794
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..799
                     /gene="ZNF227"
                     /coded_by="NM_182490.3:212..2611"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS12636.1"
                     /db_xref="GeneID:7770"
                     /db_xref="HGNC:HGNC:13020"
ORIGIN      
        1 mpsqnydlpq kkqekmtkfq eavtfkdvav vfsreelrll dltqrklyrd vmvenfknlv
       61 avghlpfqpd mvsqleaeek lwmmetetqr sskhqnkmet lqkfalkyls nqelscwqiw
      121 kqvaseltrc lqgkssqllq gdsiqvsene nnimnpkgds siyienqefp fwrtqhscgn
      181 tylsesqiqs rgkqidvknn lqihedfmkk spfhehiktd tepkpckgne ygkiisdgsn
      241 qklplgekph pcgecgrgfs ysprlplhpn vhtgekcfsq sshlrthqri hpgeklnrch
      301 esgdcfnkss fhsyqsnhtg eksyrcdscg kgfssstgli ihyrthtgek pykceecgkc
      361 fsqssnfqch qrvhteekpy kceecgkgfg wsvnlrvhqr vhrgekpykc eecgkgftqa
      421 ahfhihqrvh tgekpykcdv cgkgfshnsp lichrrvhtg ekpykceacg kgftrntdlh
      481 ihfrvhtgek pykckecgkg fsqasnlqvh qnvhtgekrf kcetcgkgfs qssklqthqr
      541 vhtgekpyrc dvcgkdfsys snlklhqvih tgekpykcee cgkgfswrsn lhahqrvhsg
      601 ekpykceqcd ksfsqaidfr vhqrvhtgek pykcgvcgkg fsqssglqsh qrvhtgekpy
      661 kcdvcgkgfr yssqfiyhqr ghtgekpykc eecgkgfgrs lnlrhhqrvh tgekphicee
      721 cgkafslpsn lrvhlgvhtr eklfkceecg kgfsqsarle ahqrvhtgek pykcdicdkd
      781 frhrsrltyh qkvhtgkkl
//
LOCUS       NP_001357143             489 aa            linear   PRI 25-DEC-2022
DEFINITION  endothelial zinc finger protein induced by tumor necrosis factor
            alpha isoform 1 [Homo sapiens].
ACCESSION   NP_001357143 XP_016882569
VERSION     NP_001357143.1
DBSOURCE    REFSEQ: accession NM_001370214.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 489)
  AUTHORS   Ye Q, Mohamed R, Dakhlallah D, Gencheva M, Hu G, Pearce MC, Kolluri
            SK, Marsh CB, Eubank TD, Ivanov AV and Guo NL.
  TITLE     Molecular Analysis of ZNF71 KRAB in Non-Small-Cell Lung Cancer
  JOURNAL   Int J Mol Sci 22 (7), 3752 (2021)
   PUBMED   33916522
  REMARK    GeneRIF: Molecular Analysis of ZNF71 KRAB in Non-Small-Cell Lung
            Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 489)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 489)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (residues 1 to 489)
  AUTHORS   Kim JH, Cheong HS, Park JS, Jang AS, Uh ST, Kim YH, Kim MK, Choi
            IS, Cho SH, Choi BW, Bae JS, Park CS and Shin HD.
  TITLE     A genome-wide association study of total serum and mite-specific
            IgEs in asthma patients
  JOURNAL   PLoS One 8 (8), e71958 (2013)
   PUBMED   23967269
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 489)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A,
            Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel
            S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA,
            Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J,
            Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M,
            Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W,
            Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V,
            Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready
            P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S,
            Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer
            J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D,
            Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo
            N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS,
            DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA,
            Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM and Lucas
            SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
REFERENCE   6  (residues 1 to 489)
  AUTHORS   Mataki C, Murakami T, Umetani M, Wada Y, Ishii M, Tsutsumi S,
            Aburatani H, Hamakubo T and Kodama T.
  TITLE     A novel zinc finger protein mRNA in human umbilical vein
            endothelial cells is profoundly induced by tumor necrosis factor
            alpha
  JOURNAL   J Atheroscler Thromb 7 (2), 97-103 (2000)
   PUBMED   11426589
REFERENCE   7  (residues 1 to 489)
  AUTHORS   Lichter P, Bray P, Ried T, Dawid IB and Ward DC.
  TITLE     Clustering of C2-H2 zinc finger motif sequences within telomeric
            and fragile site regions of human chromosomes
  JOURNAL   Genomics 13 (4), 999-1007 (1992)
   PUBMED   1505991
REFERENCE   8  (residues 1 to 489)
  AUTHORS   Aubry M, Marineau C, Zhang FR, Zahed L, Figlewicz D, Delattre O,
            Thomas G, de Jong PJ, Julien JP and Rouleau GA.
  TITLE     Cloning of six new genes with zinc finger motifs mapping to short
            and long arms of human acrocentric chromosome 22 (p and q11.2)
  JOURNAL   Genomics 13 (3), 641-648 (1992)
   PUBMED   1639391
REFERENCE   9  (residues 1 to 489)
  AUTHORS   Bray P, Lichter P, Thiesen HJ, Ward DC and Dawid IB.
  TITLE     Characterization and mapping of human genes encoding zinc finger
            proteins
  JOURNAL   Proc Natl Acad Sci U S A 88 (21), 9563-9567 (1991)
   PUBMED   1946370
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY138791.1, CR989498.1, AF269249.1, BC014280.2, BQ932244.1,
            CA416578.1, AC007228.1 and AA580897.1.
            On May 2, 2019 this sequence version replaced XP_016882569.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.183077.1,
                                           SRR1803613.228833.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..489
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     Protein         1..489
                     /product="endothelial zinc finger protein induced by tumor
                     necrosis factor alpha isoform 1"
                     /note="endothelial zinc finger protein induced by tumor
                     necrosis factor alpha; Kruppel-related zinc finger
                     protein"
                     /calculated_mol_wt=54367
     Region          1..61
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQZ8.1)"
     Region          98..122
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQZ8.1)"
     Region          108..124
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          110..479
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          132..152
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(132,135,148,152)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(137,139,141,143..144,147..148,151,165,167,171..172,
                     175..176,179,193,195,197,199..200,203..204,207)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          160..180
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          188..208
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          216..236
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(216,219,232,236)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          244..264
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(244,247,260,264)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          272..292
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(272,275,288,292)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(277,279,281,283..284,287..288,291,305,307,311..312,
                     315..316,319,333,335,337,339..340,343..344,347)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          300..320
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          328..348
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          356..376
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          384..404
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          412..432
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(412,415,428,432)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(417,419,421,423..424,427..428,431,445,447,451..452,
                     455..456,459,473,475,477,479..480,483..484,487)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          440..460
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          468..488
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..489
                     /gene="ZNF71"
                     /gene_synonym="EZFIT"
                     /coded_by="NM_001370214.1:131..1600"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS12947.1"
                     /db_xref="GeneID:58491"
                     /db_xref="HGNC:HGNC:13141"
                     /db_xref="MIM:194545"
ORIGIN      
        1 mkeldpkndi sedklsvvge atggptrnga rgpgsegvwe pgswperprg dagaeweplg
       61 ipqgnkllgg svpachelka fanqgcvlvp prlddptekg acppvrrgkn fsstsdlskp
      121 pmpceekkty dcsecgkafs rssslikhqr ihtgekpfec dtcgkhfier ssltihqrvh
      181 tgekpyacgd cgkafsqrmn ltvhqrthtg ekpyvcdvcg kafrktsslt qherihtgek
      241 pyacgdcgka fsqnmhlivh qrthtgekpy vcpecgrafs qnmhltehqr thtgekpyac
      301 kecgkafnks ssltlhqrnh tgekpyvcge cgkafsqssy liqhqrfhig vkpfecsecg
      361 kafsknsslt qhqrihtgek pyecyickkh ftgrsslivh qivhtgekpy vcgecgkafs
      421 qsayliehqr ihtgekpyrc gqcgksfikn ssltvhqrih tgekpyrcge cgktfsrntn
      481 ltrhlriht
//
LOCUS       NP_001253972             301 aa            linear   PRI 25-DEC-2022
DEFINITION  zinc finger protein AEBP2 isoform c [Homo sapiens].
ACCESSION   NP_001253972
VERSION     NP_001253972.1
DBSOURCE    REFSEQ: accession NM_001267043.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 301)
  AUTHORS   Kasinath V, Beck C, Sauer P, Poepsel S, Kosmatka J, Faini M, Toso
            D, Aebersold R and Nogales E.
  TITLE     JARID2 and AEBP2 regulate PRC2 in the presence of H2AK119ub1 and
            other histone modifications
  JOURNAL   Science 371 (6527) (2021)
   PUBMED   33479123
  REMARK    GeneRIF: JARID2 and AEBP2 regulate PRC2 in the presence of
            H2AK119ub1 and other histone modifications.
REFERENCE   2  (residues 1 to 301)
  AUTHORS   Zhang Q, Wang W and Gao Q.
  TITLE     beta-TRCP-mediated AEBP2 ubiquitination and destruction controls
            cisplatin resistance in ovarian cancer
  JOURNAL   Biochem Biophys Res Commun 523 (1), 274-279 (2020)
   PUBMED   31864706
  REMARK    GeneRIF: beta-TRCP-mediated AEBP2 ubiquitination and destruction
            controls cisplatin resistance in ovarian cancer.
REFERENCE   3  (residues 1 to 301)
  AUTHORS   Sun A, Li F, Liu Z, Jiang Y, Zhang J, Wu J and Shi Y.
  TITLE     Structural and biochemical insights into human zinc finger protein
            AEBP2 reveals interactions with RBBP4
  JOURNAL   Protein Cell 9 (8), 738-742 (2018)
   PUBMED   29134516
  REMARK    GeneRIF: The binding interface between AEBP and RBBP4 is relatively
            small compared with PHF6, histone H3 and FOG-1, indicating that
            AEBP may not have been the only region that participates in RBBP4
            recognition.
            Review article
REFERENCE   4  (residues 1 to 301)
  AUTHORS   Kim H, Bakshi A and Kim J.
  TITLE     Retrotransposon-derived promoter of Mammalian Aebp2
  JOURNAL   PLoS One 10 (4), e0126966 (2015)
   PUBMED   25915901
  REMARK    GeneRIF: retrotransposons as promoter, which display partial DNA
            methylation pattern of allelic- or non-allelic origin during
            different stages of development
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 301)
  AUTHORS   Ciferri C, Lander GC, Maiolica A, Herzog F, Aebersold R and Nogales
            E.
  TITLE     Molecular architecture of human polycomb repressive complex 2
  JOURNAL   Elife 1, e00005 (2012)
   PUBMED   23110252
  REMARK    GeneRIF: The first three-dimensional structure of the human
            polycomb repressive complex 2 complex bound to its cofactor AEBP2
            has been presented.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 301)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA
            and Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   7  (residues 1 to 301)
  AUTHORS   Soler Artigas M, Loth DW, Wain LV, Gharib SA, Obeidat M, Tang W,
            Zhai G, Zhao JH, Smith AV, Huffman JE, Albrecht E, Jackson CM,
            Evans DM, Cadby G, Fornage M, Manichaikul A, Lopez LM, Johnson T,
            Aldrich MC, Aspelund T, Barroso I, Campbell H, Cassano PA, Couper
            DJ, Eiriksdottir G, Franceschini N, Garcia M, Gieger C, Gislason
            GK, Grkovic I, Hammond CJ, Hancock DB, Harris TB, Ramasamy A,
            Heckbert SR, Heliovaara M, Homuth G, Hysi PG, James AL, Jankovic S,
            Joubert BR, Karrasch S, Klopp N, Koch B, Kritchevsky SB, Launer LJ,
            Liu Y, Loehr LR, Lohman K, Loos RJ, Lumley T, Al Balushi KA, Ang
            WQ, Barr RG, Beilby J, Blakey JD, Boban M, Boraska V, Brisman J,
            Britton JR, Brusselle GG, Cooper C, Curjuric I, Dahgam S, Deary IJ,
            Ebrahim S, Eijgelsheim M, Francks C, Gaysina D, Granell R, Gu X,
            Hankinson JL, Hardy R, Harris SE, Henderson J, Henry A, Hingorani
            AD, Hofman A, Holt PG, Hui J, Hunter ML, Imboden M, Jameson KA,
            Kerr SM, Kolcic I, Kronenberg F, Liu JZ, Marchini J, McKeever T,
            Morris AD, Olin AC, Porteous DJ, Postma DS, Rich SS, Ring SM,
            Rivadeneira F, Rochat T, Sayer AA, Sayers I, Sly PD, Smith GD, Sood
            A, Starr JM, Uitterlinden AG, Vonk JM, Wannamethee SG, Whincup PH,
            Wijmenga C, Williams OD, Wong A, Mangino M, Marciante KD, McArdle
            WL, Meibohm B, Morrison AC, North KE, Omenaas E, Palmer LJ,
            Pietilainen KH, Pin I, Pola Sbreve Ek O, Pouta A, Psaty BM,
            Hartikainen AL, Rantanen T, Ripatti S, Rotter JI, Rudan I, Rudnicka
            AR, Schulz H, Shin SY, Spector TD, Surakka I, Vitart V, Volzke H,
            Wareham NJ, Warrington NM, Wichmann HE, Wild SH, Wilk JB, Wjst M,
            Wright AF, Zgaga L, Zemunik T, Pennell CE, Nyberg F, Kuh D,
            Holloway JW, Boezen HM, Lawlor DA, Morris RW, Probst-Hensch N,
            Kaprio J, Wilson JF, Hayward C, Kahonen M, Heinrich J, Musk AW,
            Jarvis DL, Glaser S, Jarvelin MR, Ch Stricker BH, Elliott P,
            O'Connor GT, Strachan DP, London SJ, Hall IP, Gudnason V and Tobin
            MD.
  CONSRTM   International Lung Cancer Consortium; GIANT consortium
  TITLE     Genome-wide association and large-scale follow up identifies 16 new
            loci influencing lung function
  JOURNAL   Nat Genet 43 (11), 1082-1090 (2011)
   PUBMED   21946350
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 301)
  AUTHORS   Pasini D, Cloos PA, Walfridsson J, Olsson L, Bukowski JP, Johansen
            JV, Bak M, Tommerup N, Rappsilber J and Helin K.
  TITLE     JARID2 regulates binding of the Polycomb repressive complex 2 to
            target genes in ES cells
  JOURNAL   Nature 464 (7286), 306-310 (2010)
   PUBMED   20075857
REFERENCE   9  (residues 1 to 301)
  AUTHORS   Cao R and Zhang Y.
  TITLE     SUZ12 is required for both the histone methyltransferase activity
            and the silencing function of the EED-EZH2 complex
  JOURNAL   Mol Cell 15 (1), 57-67 (2004)
   PUBMED   15225548
REFERENCE   10 (residues 1 to 301)
  AUTHORS   He GP, Kim S and Ro HS.
  TITLE     Cloning and characterization of a novel zinc finger transcriptional
            repressor. A direct role of the zinc finger motif in repression
  JOURNAL   J Biol Chem 274 (21), 14678-14684 (1999)
   PUBMED   10329662
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK131410.1, BC015624.2, AB209384.1 and CX868393.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR and 5'
            coding region and represents the use of an alternate promotoer and
            also lacks a segment in the 3' coding region, compared to variant
            1. These differences result in a protein (isoform C) with a shorter
            and distinct N-terminus and a longer and distinct C-terminus,
            compared to isoform A.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK131410.1, SRR1163655.205772.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..301
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.3"
     Protein         1..301
                     /product="zinc finger protein AEBP2 isoform c"
                     /note="AE(adipocyte enhancer)-binding protein 2; zinc
                     finger protein AEBP2; adipocyte enhancer-binding protein
                     2"
                     /calculated_mol_wt=33850
     Region          <1..>123
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          50..70
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(54,56,58,60..61,64..65,69,87,89,93..94,101..102,105,
                     121,123,125,127..128,131..132,135)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          81..106
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(81,86,102,106)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          114..136
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..301
                     /gene="AEBP2"
                     /coded_by="NM_001267043.2:107..1012"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS58215.1"
                     /db_xref="GeneID:121536"
                     /db_xref="HGNC:HGNC:24051"
                     /db_xref="MIM:617934"
ORIGIN      
        1 mytrryssis stimdvdsti ssgrstpamm ngqgsttsss kniaynccwd qcqacfnssp
       61 dladhirsih vdgqrggvfv clwkgckvyn tpstsqswlq rhmlthsgdk pfkcvvggcn
      121 asfasqggla rhvpthfsqq nsskvssqpk akeespskag mnkrrklknk rrrslprphd
      181 ffdaqtldai rhraicfnls ahieslgkgh svvfhstvia krkedsgkik lllhwmpedi
      241 lpdvwvnese rhqlktkvvh lsklpkdtal lldpniyrtm pqkrlkrtli rkvfnlylsk
      301 q
//
LOCUS       NP_055635                608 aa            linear   PRI 25-DEC-2022
DEFINITION  mitochondrial import receptor subunit TOM70 [Homo sapiens].
ACCESSION   NP_055635
VERSION     NP_055635.3
DBSOURCE    REFSEQ: accession NM_014820.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 608)
  AUTHORS   Thorne LG, Bouhaddou M, Reuschl AK, Zuliani-Alvarez L, Polacco B,
            Pelin A, Batra J, Whelan MVX, Hosmillo M, Fossati A, Ragazzini R,
            Jungreis I, Ummadi M, Rojc A, Turner J, Bischof ML, Obernier K,
            Braberg H, Soucheray M, Richards A, Chen KH, Harjai B, Memon D,
            Hiatt J, Rosales R, McGovern BL, Jahun A, Fabius JM, White K,
            Goodfellow IG, Takeuchi Y, Bonfanti P, Shokat K, Jura N, Verba K,
            Noursadeghi M, Beltrao P, Kellis M, Swaney DL, Garcia-Sastre A,
            Jolly C, Towers GJ and Krogan NJ.
  TITLE     Evolution of enhanced innate immune evasion by SARS-CoV-2
  JOURNAL   Nature 602 (7897), 487-495 (2022)
   PUBMED   34942634
  REMARK    Erratum:[Nature. 2022 Apr;604(7905):E14. PMID: 35332335]
REFERENCE   2  (residues 1 to 608)
  AUTHORS   Li X, Straub J, Medeiros TC, Mehra C, den Brave F, Peker E,
            Atanassov I, Stillger K, Michaelis JB, Burbridge E, Adrain C, Munch
            C, Riemer J, Becker T and Pernas LF.
  TITLE     Mitochondria shed their outer membrane in response to
            infection-induced stress
  JOURNAL   Science 375 (6577), eabi4343 (2022)
   PUBMED   35025629
  REMARK    GeneRIF: Mitochondria shed their outer membrane in response to
            infection-induced stress.
REFERENCE   3  (residues 1 to 608)
  AUTHORS   O'Donoghue SI, Schafferhans A, Sikta N, Stolte C, Kaur S, Ho BK,
            Anderson S, Procter JB, Dallago C, Bordin N, Adcock M and Rost B.
  TITLE     SARS-CoV-2 structural coverage map reveals viral protein assembly,
            mimicry, and hijacking mechanisms
  JOURNAL   Mol Syst Biol 17 (9), e10079 (2021)
   PUBMED   34519429
REFERENCE   4  (residues 1 to 608)
  AUTHORS   Brandherm L, Kobas AM, Klohn M, Bruggemann Y, Pfaender S, Rassow J
            and Kreimendahl S.
  TITLE     Phosphorylation of SARS-CoV-2 Orf9b Regulates Its Targeting to Two
            Binding Sites in TOM70 and Recruitment of Hsp90
  JOURNAL   Int J Mol Sci 22 (17), 9233 (2021)
   PUBMED   34502139
  REMARK    GeneRIF: Phosphorylation of SARS-CoV-2 Orf9b Regulates Its
            Targeting to Two Binding Sites in TOM70 and Recruitment of Hsp90.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 608)
  AUTHORS   Fan AC, Bhangoo MK and Young JC.
  TITLE     Hsp90 functions in the targeting and outer membrane translocation
            steps of Tom70-mediated mitochondrial import
  JOURNAL   J Biol Chem 281 (44), 33313-33324 (2006)
   PUBMED   16968702
  REMARK    GeneRIF: suggests a novel active role for Hsp90 in import steps
            subsequent to Tom70 targeting.
REFERENCE   6  (residues 1 to 608)
  AUTHORS   Chou CH, Lee RS and Yang-Yen HF.
  TITLE     An internal EELD domain facilitates mitochondrial targeting of
            Mcl-1 via a Tom70-dependent pathway
  JOURNAL   Mol Biol Cell 17 (9), 3952-3963 (2006)
   PUBMED   16822835
  REMARK    GeneRIF: The internal EELD domain facilitates mitochondrial
            targeting of Mcl-1 via a Tom70-dependent pathway.
REFERENCE   7  (residues 1 to 608)
  AUTHORS   Humphries AD, Streimann IC, Stojanovski D, Johnston AJ, Yano M,
            Hoogenraad NJ and Ryan MT.
  TITLE     Dissection of the mitochondrial import and assembly pathway for
            human Tom40
  JOURNAL   J Biol Chem 280 (12), 11535-11543 (2005)
   PUBMED   15644312
REFERENCE   8  (residues 1 to 608)
  AUTHORS   Young JC, Hoogenraad NJ and Hartl FU.
  TITLE     Molecular chaperones Hsp90 and Hsp70 deliver preproteins to the
            mitochondrial import receptor Tom70
  JOURNAL   Cell 112 (1), 41-50 (2003)
   PUBMED   12526792
REFERENCE   9  (residues 1 to 608)
  AUTHORS   Edmonson AM, Mayfield DK, Vervoort V, DuPont BR and Argyropoulos G.
  TITLE     Characterization of a human import component of the mitochondrial
            outer membrane, TOMM70A
  JOURNAL   Cell Commun Adhes 9 (1), 15-27 (2002)
   PUBMED   12200962
  REMARK    GeneRIF: TOMM70A is ubiquitously expressed in human tissues, maps
            on chromosome 3q13.1-q13.2 and consists of 12 coding exons spanning
            over 37 kb.
REFERENCE   10 (residues 1 to 608)
  AUTHORS   Alvarez-Dolado M, Gonzalez-Moreno M, Valencia A, Zenke M, Bernal J
            and Munoz A.
  TITLE     Identification of a mammalian homologue of the fungal Tom70
            mitochondrial precursor protein import receptor as a thyroid
            hormone-regulated gene in specific brain regions
  JOURNAL   J Neurochem 73 (6), 2240-2249 (1999)
   PUBMED   10582581
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC065555.1, AB018262.1,
            AW044465.1 and AC093003.11.
            On Oct 23, 2004 this sequence version replaced NP_055635.2.
            
            Summary: This gene encodes an import receptor of the outer
            mitochondrial membrane that is part of the translocase of the outer
            membrane complex. This protein is involved in the import of
            mitochondrial precursor proteins. The protein interacts with the
            SARS-CoV and SARS-Cov-2 ORF9b proteins. [provided by RefSeq, Dec
            2021].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB018262.1, BC065555.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related                :: involved in SARS-CoV-2
                                                  infection
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000284320.6/
                                                  ENSP00000284320.5
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..608
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q12.2"
     Protein         1..608
                     /product="mitochondrial import receptor subunit TOM70"
                     /note="translocase of outer membrane 70 kDa subunit;
                     mitochondrial precursor proteins import receptor;
                     translocase of outer mitochondrial membrane 70 homolog A;
                     translocase of outer mitochondrial membrane protein 70"
                     /calculated_mol_wt=67324
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (O94826.1)"
     Site            39..59
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O94826.1)"
     Region          41..601
                     /region_name="3a0801s09"
                     /note="mitochondrial precursor proteins import receptor
                     (72 kDa mitochondrial outermembrane protein)
                     (mitochondrial import receptor for the ADP/ATP carrier)
                     (translocase of outermembrane tom70); TIGR00990"
                     /db_xref="CDD:273380"
     Region          67..107
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94826.1)"
     Site            71
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (O94826.1)"
     Site            91
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94826.1)"
     Site            96
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94826.1)"
     Site            110
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94826.1)"
     Region          114..147
                     /region_name="TPR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94826.1)"
     Region          114..142
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(115,118..119,122..123,125,154,157..158,161..162,
                     164..165,188,191..192,195..196,199)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          152..182
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          153..186
                     /region_name="TPR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (O94826.1)"
     Site            185
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O94826.1)"
     Region          294..327
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (O94826.1)"
     Region          329..362
                     /region_name="TPR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (O94826.1)"
     Region          329..357
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(330,333..334,337..338,340,368,371..372,375..376,
                     378..379,402,405..406,409..410,413)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          362..396
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          367..400
                     /region_name="TPR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (O94826.1)"
     Region          401..434
                     /region_name="TPR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (O94826.1)"
     Region          401..429
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            434
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94826.1)"
     Region          435..470
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          440..475
                     /region_name="TPR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (O94826.1)"
     Region          476..509
                     /region_name="TPR 8"
                     /note="propagated from UniProtKB/Swiss-Prot (O94826.1)"
     Region          476..504
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(477,480..481,484..485,487,511,514..515,518..519,
                     521..522,546,549..550,553..554,557)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          509..540
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          511..544
                     /region_name="TPR 9"
                     /note="propagated from UniProtKB/Swiss-Prot (O94826.1)"
     Region          545..578
                     /region_name="TPR 10"
                     /note="propagated from UniProtKB/Swiss-Prot (O94826.1)"
     Region          545..572
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..608
                     /gene="TOMM70"
                     /gene_synonym="Tom70; TOMM70A"
                     /coded_by="NM_014820.5:141..1967"
                     /db_xref="CCDS:CCDS33807.1"
                     /db_xref="GeneID:9868"
                     /db_xref="HGNC:HGNC:11985"
                     /db_xref="MIM:606081"
ORIGIN      
        1 maaskpveaa vvaaavpssg sgvggggtag pgtgglprwq lalavgapll lgagaiylws
       61 rqqrrrearg rgdasglkrn serktpegra spapgsghpe gpgahldmns ldraqaaknk
      121 gnkyfkagky eqaiqcytea islcpteknv dlstfyqnra aafeqlqkwk evaqdctkav
      181 elnpkyvkal frrakahekl dnkkecledv tavcilegfq nqqsmlladk vlkllgkeka
      241 kekyknrepl mpspqfiksy fssftddiis qpmlkgeksd edkdkegeal evkensgylk
      301 akqymeeeny dkiisecske idaegkymae alllratfyl lignanaakp dldkvislke
      361 anvklranal ikrgsmymqq qqpllstqdf nmaadidpqn advyhhrgql killdqveea
      421 vadfdecirl rpesalaqaq kcfalyrqay tgnnssqiqa amkgfeevik kfprcaegya
      481 lyaqaltdqq qfgkademyd kcidlepdna ttyvhkgllq lqwkqdldrg leliskaiei
      541 dnkcdfayet mgtievqrgn mekaidmfnk ainlakseme mahlyslcda ahaqtevakk
      601 yglkpptl
//
LOCUS       NP_001269132             311 aa            linear   PRI 26-DEC-2022
DEFINITION  ethanolamine-phosphate cytidylyltransferase isoform 4 [Homo
            sapiens].
ACCESSION   NP_001269132 XP_005256446
VERSION     NP_001269132.1
DBSOURCE    REFSEQ: accession NM_001282203.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 311)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 311)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 311)
  AUTHORS   Vaz FM, McDermott JH, Alders M, Wortmann SB, Kolker S, Pras-Raves
            ML, Vervaart MAT, van Lenthe H, Luyf ACM, Elfrink HL, Metcalfe K,
            Cuvertino S, Clayton PE, Yarwood R, Lowe MP, Lovell S, Rogers RC,
            van Kampen AHC, Ruiter JPN, Wanders RJA, Ferdinandusse S, van
            Weeghel M, Engelen M and Banka S.
  CONSRTM   Deciphering Developmental Disorders Study
  TITLE     Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a
            complex hereditary spastic paraplegia
  JOURNAL   Brain 142 (11), 3382-3397 (2019)
   PUBMED   31637422
  REMARK    GeneRIF: our data establish PCYT2 as a disease gene for a new
            complex hereditary spastic paraplegia and confirm that etherlipid
            homeostasis is important for the development and function of the
            brain
REFERENCE   4  (residues 1 to 311)
  AUTHORS   Osawa T, Shimamura T, Saito K, Hasegawa Y, Ishii N, Nishida M, Ando
            R, Kondo A, Anwar M, Tsuchida R, Hino S, Sakamoto A, Igarashi K,
            Saitoh K, Kato K, Endo K, Yamano S, Kanki Y, Matsumura Y, Minami T,
            Tanaka T, Anai M, Wada Y, Wanibuchi H, Hayashi M, Hamada A, Yoshida
            M, Yachida S, Nakao M, Sakai J, Aburatani H, Shibuya M, Hanada K,
            Miyano S, Soga T and Kodama T.
  TITLE     Phosphoethanolamine Accumulation Protects Cancer Cells under
            Glutamine Starvation through Downregulation of PCYT2
  JOURNAL   Cell Rep 29 (1), 89-103 (2019)
   PUBMED   31577958
  REMARK    GeneRIF: Phosphoethanolamine Accumulation Protects Cancer Cells
            under Glutamine Starvation through Downregulation of PCYT2.
REFERENCE   5  (residues 1 to 311)
  AUTHORS   Bakovic M, Fullerton MD and Michel V.
  TITLE     Metabolic and molecular aspects of ethanolamine phospholipid
            biosynthesis: the role of CTP:phosphoethanolamine
            cytidylyltransferase (Pcyt2)
  JOURNAL   Biochem Cell Biol 85 (3), 283-300 (2007)
   PUBMED   17612623
  REMARK    Review article
REFERENCE   6  (residues 1 to 311)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   7  (residues 1 to 311)
  AUTHORS   Johnson CM, Yuan Z and Bakovic M.
  TITLE     Characterization of transcription factors and cis-acting elements
            that regulate human CTP: phosphoethanolamine cytidylyltransferase
            (Pcyt2)
  JOURNAL   Biochim Biophys Acta 1735 (3), 230-235 (2005)
   PUBMED   16023412
  REMARK    GeneRIF: The Pcyt2 promoter is driven by a functional CAAT box
            (-90/-73) and by negative (-385/-255) and positive regulatory
            elements (-255/-153) in the upstream regions.
REFERENCE   8  (residues 1 to 311)
  AUTHORS   Poloumienko A, Cote A, Quee AT, Zhu L and Bakovic M.
  TITLE     Genomic organization and differential splicing of the mouse and
            human Pcyt2 genes
  JOURNAL   Gene 325, 145-155 (2004)
   PUBMED   14697519
REFERENCE   9  (residues 1 to 311)
  AUTHORS   Bladergroen BA and van Golde LM.
  TITLE     CTP:phosphoethanolamine cytidylyltransferase
  JOURNAL   Biochim Biophys Acta 1348 (1-2), 91-99 (1997)
   PUBMED   9370320
  REMARK    Review article
REFERENCE   10 (residues 1 to 311)
  AUTHORS   Nakashima A, Hosaka K and Nikawa J.
  TITLE     Cloning of a human cDNA for CTP-phosphoethanolamine
            cytidylyltransferase by complementation in vivo of a yeast mutant
  JOURNAL   J Biol Chem 272 (14), 9567-9572 (1997)
   PUBMED   9083101
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK093328.1, AC145207.2 and
            CA411562.1.
            On Aug 23, 2013 this sequence version replaced XP_005256446.1.
            
            Summary: This gene encodes an enzyme that catalyzes the formation
            of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy
            pathway of phospholipid synthesis. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (5) differs in the 5' UTR and has
            many differences in the coding region but maintains the reading
            frame, compared to variant 1. The encoded isoform (4) is shorter at
            the N-terminus, compared to isoform 1. Both variants 4 and 5 encode
            the same isoform (4).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK093328.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151119 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..311
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..311
                     /product="ethanolamine-phosphate cytidylyltransferase
                     isoform 4"
                     /EC_number="2.7.7.14"
                     /note="phosphorylethanolamine transferase;
                     CTP:phosphoethanolamine cytidylyltransferase"
                     /calculated_mol_wt=35069
     Region          2..294
                     /region_name="PTZ00308"
                     /note="ethanolamine-phosphate cytidylyltransferase;
                     Provisional"
                     /db_xref="CDD:140329"
     CDS             1..311
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /coded_by="NM_001282203.2:705..1640"
                     /note="isoform 4 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS58610.1"
                     /db_xref="GeneID:5833"
                     /db_xref="HGNC:HGNC:8756"
                     /db_xref="MIM:602679"
ORIGIN      
        1 mvqaikwvde vvpaapyvtt letldkyncd fcvhgnditl tvdgrdtyee vkqagryrec
       61 krtqgvsttd lvgrmllvtk ahhssqemss eyreyadsfg kcpggrnpwt gvsqflqtsq
      121 kiiqfasgke pqpgetviyv agafdlfhig hvdflekvhr laerpyiiag lhfdqevnhy
      181 kgknypimnl hertlsvlac ryvsevviga pyavtaells hfkvdlvchg kteiipdrdg
      241 sdpyqepkrr gifrqidsgs nlttdlivqr iitnrleyea rnqkkeakel afleaarqqa
      301 aqplgerdgd f
//
LOCUS       NP_001317576             538 aa            linear   PRI 26-DEC-2022
DEFINITION  mucolipin-2 isoform 2 [Homo sapiens].
ACCESSION   NP_001317576 XP_006710615
VERSION     NP_001317576.1
DBSOURCE    REFSEQ: accession NM_001330647.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 538)
  AUTHORS   Santoni G, Amantini C, Nabissi M, Arcella A, Maggi F, Santoni M and
            Morelli MB.
  TITLE     Functional In Vitro Assessment of VEGFA/NOTCH2 Signaling Pathway
            and pRB Proteasomal Degradation and the Clinical Relevance of
            Mucolipin TRPML2 Overexpression in Glioblastoma Patients
  JOURNAL   Int J Mol Sci 23 (2), 688 (2022)
   PUBMED   35054871
  REMARK    GeneRIF: Functional In Vitro Assessment of VEGFA/NOTCH2 Signaling
            Pathway and pRB Proteasomal Degradation and the Clinical Relevance
            of Mucolipin TRPML2 Overexpression in Glioblastoma Patients.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 538)
  AUTHORS   Yu H, Xie M, Meng Z, Lo CY, Chan FL, Jiang L, Meng X and Yao X.
  TITLE     Endolysosomal ion channel MCOLN2 (Mucolipin-2) promotes prostate
            cancer progression via IL-1beta/NF-kappaB pathway
  JOURNAL   Br J Cancer 125 (10), 1420-1431 (2021)
   PUBMED   34548638
  REMARK    GeneRIF: Endolysosomal ion channel MCOLN2 (Mucolipin-2) promotes
            prostate cancer progression via IL-1beta/NF-kappaB pathway.
REFERENCE   3  (residues 1 to 538)
  AUTHORS   Viet KK, Wagner A, Schwickert K, Hellwig N, Brennich M, Bader N,
            Schirmeister T, Morgner N, Schindelin H and Hellmich UA.
  TITLE     Structure of the Human TRPML2 Ion Channel Extracytosolic/Lumenal
            Domain
  JOURNAL   Structure 27 (8), 1246-1257 (2019)
   PUBMED   31178222
  REMARK    GeneRIF: The acidic TRPML2 extracytosolic/lumenal domain (ELD)
            pre-pore loop exhibits a pH-dependent Ca2+ interaction, suggesting
            a mechanism for channel activity regulation in the endolysosomal
            system.
REFERENCE   4  (residues 1 to 538)
  AUTHORS   Rinkenberger N and Schoggins JW.
  TITLE     Mucolipin-2 Cation Channel Increases Trafficking Efficiency of
            Endocytosed Viruses
  JOURNAL   mBio 9 (1), e02314-17 (2018)
   PUBMED   29382735
  REMARK    GeneRIF: The authors show that MCOLN2 specifically promotes viral
            vesicular trafficking and subsequent escape from endosomal
            compartments. This mechanism requires channel activity, occurs
            independently of antiviral signaling, and broadly applies to
            enveloped RNA viruses that require transport to late endosomes for
            infection, including influenza A virus, yellow fever virus, and
            Zika virus.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 538)
  AUTHORS   Morelli MB, Nabissi M, Amantini C, Tomassoni D, Rossi F, Cardinali
            C, Santoni M, Arcella A, Oliva MA, Santoni A, Polidori C, Mariani
            MP and Santoni G.
  TITLE     Overexpression of transient receptor potential mucolipin-2 ion
            channels in gliomas: role in tumor growth and progression
  JOURNAL   Oncotarget 7 (28), 43654-43668 (2016)
   PUBMED   27248469
  REMARK    GeneRIF: High TRPML-2 expression in glioma cells resulted in
            increased survival and proliferation signaling, suggesting a
            pro-tumorigenic role played by TRPML-2 in glioma progression.
REFERENCE   6  (residues 1 to 538)
  AUTHORS   Samie MA, Grimm C, Evans JA, Curcio-Morelli C, Heller S,
            Slaugenhaupt SA and Cuajungco MP.
  TITLE     The tissue-specific expression of TRPML2 (MCOLN-2) gene is
            influenced by the presence of TRPML1
  JOURNAL   Pflugers Arch 459 (1), 79-91 (2009)
   PUBMED   19763610
  REMARK    GeneRIF: TRPML1 appears to play a novel role in the tissue-specific
            transcriptional regulation of TRPML2.
REFERENCE   7  (residues 1 to 538)
  AUTHORS   Karacsonyi C, Miguel AS and Puertollano R.
  TITLE     Mucolipin-2 localizes to the Arf6-associated pathway and regulates
            recycling of GPI-APs
  JOURNAL   Traffic 8 (10), 1404-1414 (2007)
   PUBMED   17662026
  REMARK    GeneRIF: MCOLN2 traffics through the ADP-ribosylation factor 6
            (Arf6)-associated pathway, colocalizing with major
            histocompatibility protein class I and CD59 in long recycling
            endosomes.
REFERENCE   8  (residues 1 to 538)
  AUTHORS   Venkatachalam K, Hofmann T and Montell C.
  TITLE     Lysosomal localization of TRPML3 depends on TRPML2 and the
            mucolipidosis-associated protein TRPML1
  JOURNAL   J Biol Chem 281 (25), 17517-17527 (2006)
   PUBMED   16606612
  REMARK    GeneRIF: there is a hierarchy controlling the subcellular
            distributions of the TRPMLs such that TRPML1 and TRPML2 dictate the
            localization of TRPML3 and not vice versa
REFERENCE   9  (residues 1 to 538)
  AUTHORS   Clapham DE, Julius D, Montell C and Schultz G.
  TITLE     International Union of Pharmacology. XLIX. Nomenclature and
            structure-function relationships of transient receptor potential
            channels
  JOURNAL   Pharmacol Rev 57 (4), 427-450 (2005)
   PUBMED   16382100
  REMARK    Review article
REFERENCE   10 (residues 1 to 538)
  AUTHORS   Di Palma F, Belyantseva IA, Kim HJ, Vogt TF, Kachar B and
            Noben-Trauth K.
  TITLE     Mutations in Mcoln3 associated with deafness and pigmentation
            defects in varitint-waddler (Va) mice
  JOURNAL   Proc Natl Acad Sci U S A 99 (23), 14994-14999 (2002)
   PUBMED   12403827
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL358789.22 and AL139150.12.
            On Aug 30, 2016 this sequence version replaced XP_006710615.1.
            
            Summary: Mucolipins constitute a family of cation channel proteins
            with homology to the transient receptor potential superfamily. In
            mammals, the mucolipin family includes 3 members, MCOLN1 (MIM
            605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common
            6-membrane-spanning topology. Homologs of mammalian mucolipins
            exist in Drosophila and C. elegans. Mutations in the human MCOLN1
            gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007
            [PubMed 17662026]).[supplied by OMIM, Sep 2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (2) is
            shorter at the N-terminus compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138524.1142946.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..538
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.3"
     Protein         1..538
                     /product="mucolipin-2 isoform 2"
                     /note="transient receptor potential channel mucolipin 2"
                     /calculated_mol_wt=62554
     Region          83..249
                     /region_name="ELD_TRPML2"
                     /note="extracytosolic/lumenal domain (ELD) found in
                     transient receptor potential channel mucolipin 2 (TRPML2);
                     cd21071"
                     /db_xref="CDD:410967"
     Site            order(88,92,95..97,99,115..122,140,146..147,150,152,200,
                     204..205,212..213,227,229..233,238..240,246..247)
                     /site_type="other"
                     /note="putative tetramer interface [polypeptide binding]"
                     /db_xref="CDD:410967"
     Region          <360..485
                     /region_name="PKD_channel"
                     /note="Polycystin cation channel; pfam08016"
                     /db_xref="CDD:400395"
     CDS             1..538
                     /gene="MCOLN2"
                     /gene_synonym="TRP-ML2; TRPML2"
                     /coded_by="NM_001330647.2:425..2041"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS81347.1"
                     /db_xref="GeneID:255231"
                     /db_xref="HGNC:HGNC:13357"
                     /db_xref="MIM:607399"
ORIGIN      
        1 mahrdsemke eclredlkfy fmspcekyra rrqipwklgl qilkivmvtt qlvrfglsnq
       61 lvvafkednt vafkhlflkg ysgtdeddys csvytqeday esiffainqy hqlkditlgt
      121 lgygenednr iglkvckqhy kkgtmfpsne tlnidndvel dcvqldlqdl skkppdwkns
      181 sffrlefyrl lqveisfhlk gidlqtihsr elpdcyvfqn tiifdnkahs gkikiyfdsd
      241 akieeckdln ifgstqknaq yvlvfdafvi viclaslilc trsivlalrl rkrflnffle
      301 kykrpvcdtd qwefingwyv lviisdlmti igsilkmeik aknltnydlc siflgtstll
      361 vwvgvirylg yfqaynvlil tmqaslpkvl rfcacagmiy lgytfcgwiv lgpyhdkfen
      421 lntvaeclfs lvngddmfat faqiqqksil vwlfsrlyly sfislfiymi lslfialitd
      481 sydtikkfqq ngfpetdlqe flkecsskee yqkessafls ciccrrrkrs ddhlipis
//
LOCUS       NP_001265714             126 aa            linear   PRI 26-DEC-2022
DEFINITION  DNA-directed RNA polymerase I subunit RPA12 [Homo sapiens].
ACCESSION   NP_001265714
VERSION     NP_001265714.1
DBSOURCE    REFSEQ: accession NM_001278785.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 126)
  AUTHORS   Yin X, Zhang K, Wang J, Zhou X, Zhang C, Song X, Wu Z, Du J, Chen
            Q, Zhang S and Deng W.
  TITLE     RNA polymerase I subunit 12 plays opposite roles in cell
            proliferation and migration
  JOURNAL   Biochem Biophys Res Commun 560, 112-118 (2021)
   PUBMED   33984768
  REMARK    GeneRIF: RNA polymerase I subunit 12 plays opposite roles in cell
            proliferation and migration.
REFERENCE   2  (residues 1 to 126)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 126)
  AUTHORS   Kim HW, Jeong D, Ham J, Kim H, Ji HW, Choi EH and Kim SJ.
  TITLE     ZNRD1 and Its Antisense Long Noncoding RNA ZNRD1-AS1 Are Oppositely
            Regulated by Cold Atmospheric Plasma in Breast Cancer Cells
  JOURNAL   Oxid Med Cell Longev 2020, 9490567 (2020)
   PUBMED   32454947
  REMARK    GeneRIF: ZNRD1 and Its Antisense Long Noncoding RNA ZNRD1-AS1 Are
            Oppositely Regulated by Cold Atmospheric Plasma in Breast Cancer
            Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 126)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 126)
  AUTHORS   Santoro M, Vollono C, Pazzaglia C, Di Sipio E, Giordano R, Padua L,
            Arendt-Nielsen L and Valeriani M.
  TITLE     ZNRD1-AS and RP11-819C21.1 long non-coding RNA changes following
            painful laser stimulation correlate with laser-evoked potential
            amplitude and habituation in healthy subjects: A pilot study
  JOURNAL   Eur J Pain 24 (3), 593-603 (2020)
   PUBMED   31782860
  REMARK    GeneRIF: ZNRD1-AS and RP11-819C21.1 long non-coding RNA changes
            following painful laser stimulation correlate with laser-evoked
            potential amplitude and habituation in healthy subjects: A pilot
            study.
REFERENCE   6  (residues 1 to 126)
  AUTHORS   Hong L, Zhang Y, Liu N, Liu C, Zhi M, Pan Y, Lan M, Sun L and Fan
            D.
  TITLE     Suppression of the cell proliferation in stomach cancer cells by
            the ZNRD1 gene
  JOURNAL   Biochem Biophys Res Commun 321 (3), 611-616 (2004)
   PUBMED   15358150
  REMARK    GeneRIF: This study clearly demonstrates that ZNRD1 may play an
            important role in the control of human gastric cancer development
            by regulating cell proliferation.
REFERENCE   7  (residues 1 to 126)
  AUTHORS   Shi Y, Zhang Y, Zhao Y, Hong L, Liu N, Jin X, Pan Y and Fan D.
  TITLE     Overexpression of ZNRD1 promotes multidrug-resistant phenotype of
            gastric cancer cells through upregulation of P-glycoprotein
  JOURNAL   Cancer Biol Ther 3 (4), 377-381 (2004)
   PUBMED   14726695
  REMARK    GeneRIF: overexpression of ZNRD1 could promote multidrug-resistant
            phenotype of gastric cancer cells through upregulation of
            P-glycoprotein
REFERENCE   8  (residues 1 to 126)
  AUTHORS   Coriton O, Lepourcelet M, Hampe A, Galibert F and Mosser J.
  TITLE     Transcriptional analysis of the 69-kb sequence centromeric to
            HLA-J: a dense and complex structure of five genes
  JOURNAL   Mamm Genome 11 (12), 1127-1131 (2000)
   PUBMED   11130983
REFERENCE   9  (residues 1 to 126)
  AUTHORS   Fan W, Wang Z, Kyzysztof F, Prange C and Lennon G.
  TITLE     A new zinc ribbon gene (ZNRD1) is cloned from the human MHC class I
            region
  JOURNAL   Genomics 63 (1), 139-141 (2000)
   PUBMED   10662553
REFERENCE   10 (residues 1 to 126)
  AUTHORS   Lepourcelet M, Andrieux N, Giffon T, Pichon L, Hampe A, Galibert F
            and Mosser J.
  TITLE     Systematic sequencing of the human HLA-A/HLA-F region:
            establishment of a cosmid contig and identification of a new gene
            cluster within 37 kb of sequence
  JOURNAL   Genomics 37 (3), 316-326 (1996)
   PUBMED   8938444
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY071776.1, DN996443.1 and
            AF238321.1.
            
            Summary: This gene encodes a DNA-directed RNA polymerase I subunit.
            The encoded protein contains two potential zinc-binding motifs and
            may play a role in regulation of cell proliferation. The encoded
            protein may be involved in cancer and human immunodeficiency virus
            progression. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (c) differs in the 5' UTR,
            compared to variant a. Variants a, b, c, and d encode the same
            protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DN996443.1, SRR1163657.124072.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..126
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     Protein         1..126
                     /product="DNA-directed RNA polymerase I subunit RPA12"
                     /EC_number="2.7.7.6"
                     /note="transcription-associated zinc ribbon protein; RNA
                     polymerase I small specific subunit Rpa12; zinc ribbon
                     domain containing 1; DNA-directed RNA polymerase I subunit
                     H"
                     /calculated_mol_wt=13773
     Region          19..125
                     /region_name="RPB9"
                     /note="DNA-directed RNA polymerase, subunit
                     M/Transcription elongation factor TFIIS [Transcription];
                     COG1594"
                     /db_xref="CDD:224510"
     Region          79..125
                     /region_name="Zn-ribbon_RPA12"
                     /note="C-terminal zinc ribbon domain of RPA12 subunit of
                     RNA polymerase I; cd10507"
                     /db_xref="CDD:259792"
     Site            order(87,90,115,118)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:259792"
     CDS             1..126
                     /gene="POLR1H"
                     /gene_synonym="A12.2; HTEX-6; HTEX6; hZR14; Rpa12;
                     tctex-6; TCTEX6; TEX6; ZNRD1; ZR14"
                     /coded_by="NM_001278785.2:136..516"
                     /db_xref="CCDS:CCDS4670.1"
                     /db_xref="GeneID:30834"
                     /db_xref="HGNC:HGNC:13182"
                     /db_xref="MIM:607525"
ORIGIN      
        1 msvmdlantc ssfqsdldfc sdcgsvlplp gaqdtvtcir cgfninvrdf egkvvktsvv
       61 fhqlgtampm sveegpecqg pvvdrrcprc ghegmayhtr qmrsadegqt vfytctnckf
      121 qekeds
//
LOCUS       NP_001291427             104 aa            linear   PRI 27-DEC-2022
DEFINITION  centrosomal protein 20 isoform 3 [Homo sapiens].
ACCESSION   NP_001291427 XP_005255148 XP_006725255
VERSION     NP_001291427.1
DBSOURCE    REFSEQ: accession NM_001304498.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 104)
  AUTHORS   Simon MA, Ecsedi P, Kovacs GM, Poti AL, Remenyi A, Kardos J, Gogl G
            and Nyitray L.
  TITLE     High-throughput competitive fluorescence polarization assay reveals
            functional redundancy in the S100 protein family
  JOURNAL   FEBS J 287 (13), 2834-2846 (2020)
   PUBMED   31837246
REFERENCE   2  (residues 1 to 104)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 104)
  AUTHORS   Ali M, Lemonakis K, Wihlborg AK, Veskovski L, Turesson I, Mellqvist
            UH, Gullberg U, Hansson M and Nilsson B.
  TITLE     Sequence variation at the MTHFD1L-AKAP12 and FOPNL loci does not
            influence multiple myeloma survival in Sweden
  JOURNAL   Blood Cancer J 9 (8), 57 (2019)
   PUBMED   31363079
  REMARK    GeneRIF: Results together with the limitations of the original
            studies indicate that the reported associations between the MTHFD1L
            and FOPNL loci and MM survival are false positives due to a
            winner's curse effect.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 104)
  AUTHORS   Kiss KP, Varga G, Mikala G, Balassa K, Bors A, Kovy P, Meggyesi N,
            Kozma A, Csacsovszki O, Remenyi P, Valyi-Nagy I, Tordai A, Masszi T
            and Andrikovics H.
  TITLE     The adverse effect of FOPNL genomic variant is reversed by
            bortezomib-based treatment protocols in multiple myeloma
  JOURNAL   Leuk Lymphoma 59 (3), 710-716 (2018)
   PUBMED   28691553
  REMARK    GeneRIF: FOPNL genomic variant is associated with multiple myeloma.
REFERENCE   5  (residues 1 to 104)
  AUTHORS   Sakane K, Nishiguchi M, Denda M, Yamagchi F, Magari M, Kanayama N,
            Morishita R and Tokumitsu H.
  TITLE     Identification and characterization of a centrosomal protein, FOR20
            as a novel S100A6 target
  JOURNAL   Biochem Biophys Res Commun 491 (4), 980-985 (2017)
   PUBMED   28765046
  REMARK    GeneRIF: The S100A6 interacts with FOR20 and related centrosomal
            proteins through a conserved N-terminal domain, suggesting a novel
            Ca(2+)-dependent regulation of centrosomal function.
REFERENCE   6  (residues 1 to 104)
  AUTHORS   Srivastava S and Panda D.
  TITLE     A centrosomal protein FOR20 regulates microtubule assembly dynamics
            and plays a role in cell migration
  JOURNAL   Biochem J 474 (16), 2841-2859 (2017)
   PUBMED   28694353
  REMARK    GeneRIF: The results suggested that the centrosomal protein FOR20
            is a new member of the microtubule-associated protein family and
            that it regulates the assembly and dynamics of microtubules while
            interacting with tubulin.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 104)
  AUTHORS   Shen M, Cai Y, Yang Y, Yan X, Liu X and Zhou T.
  TITLE     Centrosomal protein FOR20 is essential for S-phase progression by
            recruiting Plk1 to centrosomes
  JOURNAL   Cell Res 23 (11), 1284-1295 (2013)
   PUBMED   24018379
  REMARK    GeneRIF: The depletion of FOR20 (FOP-related protein of 20 kDa), a
            conserved centrosomal protein, inhibits S-phase progression and
            prevents targeting of Plk1 (polo-like kinase 1) to centrosomes,
            where FOR20 interacts with Plk1.
REFERENCE   8  (residues 1 to 104)
  AUTHORS   Jakobsen L, Vanselow K, Skogs M, Toyoda Y, Lundberg E, Poser I,
            Falkenby LG, Bennetzen M, Westendorf J, Nigg EA, Uhlen M, Hyman AA
            and Andersen JS.
  TITLE     Novel asymmetrically localizing components of human centrosomes
            identified by complementary proteomics methods
  JOURNAL   EMBO J 30 (8), 1520-1535 (2011)
   PUBMED   21399614
REFERENCE   9  (residues 1 to 104)
  AUTHORS   Sedjai F, Acquaviva C, Chevrier V, Chauvin JP, Coppin E, Aouane A,
            Coulier F, Tolun A, Pierres M, Birnbaum D and Rosnet O.
  TITLE     Control of ciliogenesis by FOR20, a novel centrosome and
            pericentriolar satellite protein
  JOURNAL   J Cell Sci 123 (Pt 14), 2391-2401 (2010)
   PUBMED   20551181
  REMARK    Erratum:[J Cell Sci. 2010 Jul 15;123(Pt 14):2521]
REFERENCE   10 (residues 1 to 104)
  AUTHORS   de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck
            C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie
            AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F,
            Brilstra EH, Trenite DK, Swinkels ME, Weber YG, Unterberger I,
            Zimprich F, Urak L, Feucht M, Fuchs K, Moller RS, Hjalgrim H, De
            Jonghe P, Suls A, Ruckert IM, Wichmann HE, Franke A, Schreiber S,
            Nurnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout
            D, Eichler EE and Sander T.
  TITLE     Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to
            idiopathic generalized epilepsies
  JOURNAL   Brain 133 (Pt 1), 23-32 (2010)
   PUBMED   19843651
  REMARK    GeneRIF: Microdeletions at 16p13.11 are associated with a
            predisposition to idiopathic generalized epilepsy.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB494037.1 and AL832498.1.
            On or before Jan 29, 2015 this sequence version replaced
            XP_005255148.1, XP_006725255.1.
            
            Transcript Variant: This variant (3) lacks an alternate exon in the
            3' coding region, which results in a frameshift, compared to
            variant 1. The encoded isoform (3) has a shorter C-terminus than
            isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.2887072.1,
                                           SRR7346977.832650.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..104
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.11"
     Protein         1..104
                     /product="centrosomal protein 20 isoform 3"
                     /note="pluripotent embryonic stem cell-related protein;
                     FOP-related protein of 20 kDa; lisH domain-containing
                     protein C16orf63; lisH domain-containing protein FOPNL;
                     FGFR1OP N-terminal like"
                     /calculated_mol_wt=11760
     Region          1..104
                     /region_name="Necessary and sufficient for
                     homooligomerization and localization to centrosomes and
                     pericentriolar satellites"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96NB1.1)"
     Region          43..98
                     /region_name="LisH_2"
                     /note="cl29685"
                     /db_xref="CDD:453039"
     CDS             1..104
                     /gene="CEP20"
                     /gene_synonym="C16orf63; FOPNL; FOR20; PHSECRG2"
                     /coded_by="NM_001304498.2:19..333"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS76831.1"
                     /db_xref="GeneID:123811"
                     /db_xref="HGNC:HGNC:26435"
                     /db_xref="MIM:617149"
ORIGIN      
        1 matvaelkav lkdtlekkgv lghlkarira evfnaldddr eprpslshen llinelirey
       61 lefnkykyta svliaesgqp vvpldrqfli helnafeesk dnti
//
LOCUS       NP_001094065              75 aa            linear   PRI 27-DEC-2022
DEFINITION  spindle and kinetochore-associated protein 2 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001094065
VERSION     NP_001094065.1
DBSOURCE    REFSEQ: accession NM_001100595.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 75)
  AUTHORS   Kalla C, Goltser-Dubner T, Pevzner D, Canetti L, Mirman A,
            Ben-Yehuda A, Itzhar N, Benarroch F, Shalev A, Giesser R, Fruchter
            E, Vashdi I, Oz O, Haber R, Saloner C, Lotan A, Galili-Weisstub E,
            Bonne O and Segman R.
  TITLE     Resting mononuclear cell NR3C1 and SKA2 expression levels predict
            blunted cortisol reactivity to combat training stress among elite
            army cadets exposed to childhood adversity
  JOURNAL   Mol Psychiatry 26 (11), 6680-6687 (2021)
   PUBMED   33981010
  REMARK    GeneRIF: Resting mononuclear cell NR3C1 and SKA2 expression levels
            predict blunted cortisol reactivity to combat training stress among
            elite army cadets exposed to childhood adversity.
REFERENCE   2  (residues 1 to 75)
  AUTHORS   Yu DC, Chen XY, Li X, Zhou HY, Yu DQ, Yu XL, Hu YC, Zhang RH, Zhang
            XB, Zhang K and An JD.
  TITLE     Transcript levels of spindle and kinetochore-associated complex 1/3
            as prognostic biomarkers correlated with immune infiltrates in
            hepatocellular carcinoma
  JOURNAL   Sci Rep 11 (1), 11165 (2021)
   PUBMED   34045512
  REMARK    GeneRIF: Transcript levels of spindle and kinetochore-associated
            complex 1/3 as prognostic biomarkers correlated with immune
            infiltrates in hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 75)
  AUTHORS   Dou D, Ren X, Han M, Xu X, Ge X, Gu Y, Wang X and Zhao S.
  TITLE     Circ_0008039 supports breast cancer cell proliferation, migration,
            invasion, and glycolysis by regulating the miR-140-3p/SKA2 axis
  JOURNAL   Mol Oncol 15 (2), 697-709 (2021)
   PUBMED   33244865
  REMARK    GeneRIF: Circ_0008039 supports breast cancer cell proliferation,
            migration, invasion, and glycolysis by regulating the
            miR-140-3p/SKA2 axis.
REFERENCE   4  (residues 1 to 75)
  AUTHORS   Sun Y, Xu D, Zhang C, Wang Y, Zhang L, Qiao D, Bu Y and Zhang Y.
  TITLE     HEDGEHOG/GLI Modulates the PRR11-SKA2 Bidirectional Transcription
            Unit in Lung Squamous Cell Carcinomas
  JOURNAL   Genes (Basel) 12 (1), 120 (2021)
   PUBMED   33477943
  REMARK    GeneRIF: HEDGEHOG/GLI Modulates the PRR11-SKA2 Bidirectional
            Transcription Unit in Lung Squamous Cell Carcinomas.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 75)
  AUTHORS   Jiang J, Xu B, Zheng Y, Guo X and Chen F.
  TITLE     Spindle and kinetochore-associated protein 2 facilitates the
            proliferation and invasion of hepatocellular carcinoma via the
            regulation of Wnt/beta-catenin signaling
  JOURNAL   Exp Cell Res 395 (1), 112181 (2020)
   PUBMED   32682011
  REMARK    GeneRIF: Spindle and kinetochore-associated protein 2 facilitates
            the proliferation and invasion of hepatocellular carcinoma via the
            regulation of Wnt/beta-catenin signaling.
REFERENCE   6  (residues 1 to 75)
  AUTHORS   Cao G, Huang B, Liu Z, Zhang J, Xu H, Xia W, Li J, Li S, Chen L,
            Ding H, Zhao Q, Fan M, Shen B and Shao N.
  TITLE     Intronic miR-301 feedback regulates its host gene, ska2, in A549
            cells by targeting MEOX2 to affect ERK/CREB pathways
  JOURNAL   Biochem Biophys Res Commun 396 (4), 978-982 (2010)
   PUBMED   20470754
  REMARK    GeneRIF: blocking of miR-301 in A549 cells leads to a decrease in
            the expression of the host gene, ska2.
REFERENCE   7  (residues 1 to 75)
  AUTHORS   Gaitanos TN, Santamaria A, Jeyaprakash AA, Wang B, Conti E and Nigg
            EA.
  TITLE     Stable kinetochore-microtubule interactions depend on the Ska
            complex and its new component Ska3/C13Orf3
  JOURNAL   EMBO J 28 (10), 1442-1452 (2009)
   PUBMED   19360002
REFERENCE   8  (residues 1 to 75)
  AUTHORS   Welburn JP, Grishchuk EL, Backer CB, Wilson-Kubalek EM, Yates JR
            3rd and Cheeseman IM.
  TITLE     The human kinetochore Ska1 complex facilitates microtubule
            depolymerization-coupled motility
  JOURNAL   Dev Cell 16 (3), 374-385 (2009)
   PUBMED   19289083
REFERENCE   9  (residues 1 to 75)
  AUTHORS   Rice L, Waters CE, Eccles J, Garside H, Sommer P, Kay P, Blackhall
            FH, Zeef L, Telfer B, Stratford I, Clarke R, Singh D, Stevens A,
            White A and Ray DW.
  TITLE     Identification and functional analysis of SKA2 interaction with the
            glucocorticoid receptor
  JOURNAL   J Endocrinol 198 (3), 499-509 (2008)
   PUBMED   18583474
  REMARK    GeneRIF: Study discovered that FAM33A is protein partners for GRs
            and is involved in cell proliferation and GC signalling.
REFERENCE   10 (residues 1 to 75)
  AUTHORS   Hanisch A, Sillje HH and Nigg EA.
  TITLE     Timely anaphase onset requires a novel spindle and kinetochore
            complex comprising Ska1 and Ska2
  JOURNAL   EMBO J 25 (23), 5504-5515 (2006)
   PUBMED   17093495
  REMARK    GeneRIF: These data suggest that the Ska1/Ska2 complex plays a
            critical role in the maintenance of the metaphase plate and/or
            spindle checkpoint silencing.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB158057.1, DA133216.1, AC099850.7 and BQ019350.1.
            
            Transcript Variant: This variant (2) has multiple differences in
            the coding region, compared to variant 1, one of which results in a
            translational frameshift. The resulting protein (isoform 2) has a
            distinct C-terminus and is shorter than isoform 1. The biological
            validity of the predicted protein sequence needs to be
            experimentally verified.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.15465.1,
                                           SRR1660803.108636.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467148 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..75
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q22"
     Protein         1..75
                     /product="spindle and kinetochore-associated protein 2
                     isoform 2"
                     /note="spindle and KT (kinetochore) associated 2; family
                     with sequence similarity 33, member A; spindle and
                     kinetochore-associated protein 2"
                     /calculated_mol_wt=8150
     CDS             1..75
                     /gene="SKA2"
                     /gene_synonym="FAM33A"
                     /coded_by="NM_001100595.2:104..331"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS45748.1"
                     /db_xref="GeneID:348235"
                     /db_xref="HGNC:HGNC:28006"
                     /db_xref="MIM:616674"
ORIGIN      
        1 masevghnle spetpggggw trvefpppap kgaatvwcln rlgsrklsli witfntgwnm
       61 ksrliiliqq vschh
//
LOCUS       NP_001349722             542 aa            linear   PRI 27-DEC-2022
DEFINITION  eukaryotic translation initiation factor 3 subunit B isoform 2
            [Homo sapiens].
ACCESSION   NP_001349722
VERSION     NP_001349722.1
DBSOURCE    REFSEQ: accession NM_001362793.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 542)
  AUTHORS   Fang P, Han Y, Qu Y, Wang X, Zhang Y, Zhang W, Zhang N, Li G and Ma
            W.
  TITLE     EIF3B stabilizes PTGS2 expression by counteracting MDM2-mediated
            ubiquitination to promote the development and progression of
            malignant melanoma
  JOURNAL   Cancer Sci 113 (12), 4181-4192 (2022)
   PUBMED   36050601
  REMARK    GeneRIF: EIF3B stabilizes PTGS2 expression by counteracting
            MDM2-mediated ubiquitination to promote the development and
            progression of malignant melanoma.
REFERENCE   2  (residues 1 to 542)
  AUTHORS   Song S, Liu J, Zhang M, Gao X, Sun W, Liu P, Wang Y and Li J.
  TITLE     Eukaryotic translation initiation factor 3 subunit B could serve as
            a potential prognostic predictor for breast cancer
  JOURNAL   Bioengineered 13 (2), 2762-2776 (2022)
   PUBMED   35040374
  REMARK    GeneRIF: Eukaryotic translation initiation factor 3 subunit B could
            serve as a potential prognostic predictor for breast cancer.
REFERENCE   3  (residues 1 to 542)
  AUTHORS   Zhu F, Fu Y and He X.
  TITLE     EIF3B Associates with Exacerbated Clinical Features, Poor Treatment
            Response and Survival in Adult Philadelphia Chromosome Negative
            Acute Lymphoblastic Leukemia Patients
  JOURNAL   Technol Cancer Res Treat 20, 15330338211041464 (2021)
   PUBMED   34617851
  REMARK    GeneRIF: EIF3B Associates with Exacerbated Clinical Features, Poor
            Treatment Response and Survival in Adult Philadelphia Chromosome
            Negative Acute Lymphoblastic Leukemia Patients.
REFERENCE   4  (residues 1 to 542)
  AUTHORS   Xiang P, Sun Y, Fang Z, Yan K and Fan Y.
  TITLE     Eukaryotic translation initiation factor 3 subunit b is a novel
            oncogenic factor in prostate cancer
  JOURNAL   Mamm Genome 31 (7-8), 197-204 (2020)
   PUBMED   32556998
  REMARK    GeneRIF: Eukaryotic translation initiation factor 3 subunit b is a
            novel oncogenic factor in prostate cancer.
REFERENCE   5  (residues 1 to 542)
  AUTHORS   Ma F, Li X, Ren J, Guo R, Li Y, Liu J, Sun Y, Liu Z, Jia J and Li
            W.
  TITLE     Downregulation of eukaryotic translation initiation factor 3b
            inhibited proliferation and metastasis of gastric cancer
  JOURNAL   Cell Death Dis 10 (9), 623 (2019)
   PUBMED   31423012
  REMARK    GeneRIF: Downregulation of eukaryotic translation initiation factor
            3b inhibited proliferation and metastasis of gastric cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 542)
  AUTHORS   Sizova DV, Kolupaeva VG, Pestova TV, Shatsky IN and Hellen CU.
  TITLE     Specific interaction of eukaryotic translation initiation factor 3
            with the 5' nontranslated regions of hepatitis C virus and
            classical swine fever virus RNAs
  JOURNAL   J Virol 72 (6), 4775-4782 (1998)
   PUBMED   9573242
REFERENCE   7  (residues 1 to 542)
  AUTHORS   Chaudhuri J, Chakrabarti A and Maitra U.
  TITLE     Biochemical characterization of mammalian translation initiation
            factor 3 (eIF3). Molecular cloning reveals that p110 subunit is the
            mammalian homologue of Saccharomyces cerevisiae protein Prt1
  JOURNAL   J Biol Chem 272 (49), 30975-30983 (1997)
   PUBMED   9388245
REFERENCE   8  (residues 1 to 542)
  AUTHORS   Methot N, Rom E, Olsen H and Sonenberg N.
  TITLE     The human homologue of the yeast Prt1 protein is an integral part
            of the eukaryotic initiation factor 3 complex and interacts with
            p170
  JOURNAL   J Biol Chem 272 (2), 1110-1116 (1997)
   PUBMED   8995410
REFERENCE   9  (residues 1 to 542)
  AUTHORS   Asano K, Kinzy TG, Merrick WC and Hershey JW.
  TITLE     Conservation and diversity of eukaryotic translation initiation
            factor eIF3
  JOURNAL   J Biol Chem 272 (2), 1101-1109 (1997)
   PUBMED   8995409
REFERENCE   10 (residues 1 to 542)
  AUTHORS   Kirken RA, Rui H, Evans GA and Farrar WL.
  TITLE     Characterization of an interleukin-2 (IL-2)-induced tyrosine
            phosphorylated 116-kDa protein associated with the IL-2 receptor
            beta-subunit
  JOURNAL   J Biol Chem 268 (30), 22765-22770 (1993)
   PUBMED   7693677
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA781713.1, AC004971.3, AC004840.4 and BQ045103.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.269912.1,
                                           SRR1803613.73684.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..542
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     Protein         1..542
                     /product="eukaryotic translation initiation factor 3
                     subunit B isoform 2"
                     /note="eukaryotic translation initiation factor 3, subunit
                     9 (eta, 116kD); eukaryotic translation initiation factor
                     3, subunit 9 eta, 116kDa; prt1 homolog; eukaryotic
                     translation initiation factor 3 subunit 9; protein
                     synthesis 1"
                     /calculated_mol_wt=63559
     Region          33..533
                     /region_name="COG5354"
                     /note="Uncharacterized protein, contains Trp-Asp (WD)
                     repeat [General function prediction only]"
                     /db_xref="CDD:227657"
     Region          66..99
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          104..151
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          157..191
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          195..234
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          242..273
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          284..332
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          340..375
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          382..412
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..542
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /coded_by="NM_001362793.2:615..2243"
                     /note="isoform 2 is encoded by transcript variant 5"
                     /db_xref="GeneID:8662"
                     /db_xref="HGNC:HGNC:3280"
                     /db_xref="MIM:603917"
ORIGIN      
        1 mtisdewdip ekqpfkdlgn lrywleeaec rdqysvifes gdrtsifwnd vkdpvsieer
       61 arwtetyvrw spkgtylatf hqrgialwgg ekfkqiqrfs hqgvqlidfs pcerylvtfs
      121 plmdtqddpq aiiiwdiltg hkkrgfhces sahwpifkws hdgkffarmt ldtlsiyetp
      181 smglldkksl kisgikdfsw spggniiafw vpedkdipar vtlmqlptrq eirvrnlfnv
      241 vdcklhwqkn gdylcvkvdr tpkgtqgvvt nfeifrmrek qvpvdvvemk etiiafawep
      301 ngskfavlhg eaprisvsfy hvknngkiel ikmfdkqqan tifwspqgqf vvlaglrsmn
      361 galafvdtsd ctvmniaehy masdvewdpt gryvvtsvsw wshkvdnayw lwtfqgrllq
      421 knnkdrfcql lwrprpptll sqeqikqikk dlkkyskife qkdrlsqska skelverrrt
      481 mmedfrkyrk maqelymeqk nerlelrggv dtdeldsnvd dweeetieff vteeiiplgn
      541 qe
//
LOCUS       NP_001363788             371 aa            linear   PRI 27-DEC-2022
DEFINITION  alpha-taxilin isoform 2 [Homo sapiens].
ACCESSION   NP_001363788 XP_016856053
VERSION     NP_001363788.1
DBSOURCE    REFSEQ: accession NM_001376859.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 371)
  AUTHORS   Ma D, Wang F, Wang R, Hu Y, Chen Z, Huang N, Tian Y, Xia Y, Teng J
            and Chen J.
  TITLE     alpha-/gamma-Taxilin are required for centriolar subdistal
            appendage assembly and microtubule organization
  JOURNAL   Elife 11, e73252 (2022)
   PUBMED   35119360
  REMARK    GeneRIF: alpha-/gamma-Taxilin are required for centriolar subdistal
            appendage assembly and microtubule organization.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 371)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   3  (residues 1 to 371)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 371)
  AUTHORS   Lv S, Zhang G, Xie L, Yan Z, Wang Q, Li Y, Zhang L, Han Y, Li H, Du
            Y, Yang Y and Guo X.
  TITLE     High TXLNA Expression Predicts Favourable Outcome for Pancreatic
            Adenocarcinoma Patients
  JOURNAL   Biomed Res Int 2020, 2585862 (2020)
   PUBMED   32185195
  REMARK    GeneRIF: High TXLNA Expression Predicts Favourable Outcome for
            Pancreatic Adenocarcinoma Patients.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 371)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 371)
  AUTHORS   Nogami S, Satoh S, Nakano M, Terano A and Shirataki H.
  TITLE     Interaction of taxilin with syntaxin which does not form the SNARE
            complex
  JOURNAL   Biochem Biophys Res Commun 311 (4), 797-802 (2003)
   PUBMED   14623251
REFERENCE   7  (residues 1 to 371)
  AUTHORS   Nogami S, Satoh S, Nakano M, Shimizu H, Fukushima H, Maruyama A,
            Terano A and Shirataki H.
  TITLE     Taxilin; a novel syntaxin-binding protein that is involved in
            Ca2+-dependent exocytosis in neuroendocrine cells
  JOURNAL   Genes Cells 8 (1), 17-28 (2003)
   PUBMED   12558796
REFERENCE   8  (residues 1 to 371)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   9  (residues 1 to 371)
  AUTHORS   Ambrus,J.L. Jr., Pippin,J., Joseph,A., Xu,C., Blumenthal,D.,
            Tamayo,A., Claypool,K., McCourt,D., Srikiatchatochorn,A. and
            Ford,R.
  TITLE     Identification of a cDNA for a human high molecular-weight B-cell
            growth factor
  JOURNAL   Proc Natl Acad Sci U S A 93 (15), 8154 (1996)
   PUBMED   8755619
  REMARK    Correction to:[Proc Natl Acad Sci U S A. 1993 Jul 1;90(13):6330-4.
            PMID: 8327514]
REFERENCE   10 (residues 1 to 371)
  AUTHORS   Ambrus JL Jr, Pippin J, Joseph A, Xu C, Blumenthal D, Tamayo A,
            Claypool K, McCourt D, Srikiatchatochorn A and Ford RJ.
  TITLE     Identification of a cDNA for a human high-molecular-weight B-cell
            growth factor
  JOURNAL   Proc Natl Acad Sci U S A 90 (13), 6330-6334 (1993)
   PUBMED   8327514
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 1996 Jul 23;93(15):8154. PMID:
            8755619]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL049795.21.
            On Nov 20, 2019 this sequence version replaced XP_016856053.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1971797.1,
                                           SRR18074969.511928.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..371
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.2"
     Protein         1..371
                     /product="alpha-taxilin isoform 2"
                     /note="alpha-taxilin; interleukin 14"
                     /calculated_mol_wt=43175
     Region          1..302
                     /region_name="Taxilin"
                     /note="Myosin-like coiled-coil protein; pfam09728"
                     /db_xref="CDD:430780"
     CDS             1..371
                     /gene="TXLNA"
                     /gene_synonym="IL14; TXLN"
                     /coded_by="NM_001376859.1:459..1574"
                     /note="isoform 2 is encoded by transcript variant 4"
                     /db_xref="GeneID:200081"
                     /db_xref="HGNC:HGNC:30685"
                     /db_xref="MIM:608676"
ORIGIN      
        1 mqtlntlstp eeklaalckk yaelleehrn sqkqmkllqk kqsqlvqekd hlrgehskav
       61 larskleslc relqrhnrsl keegvqrare eeekrkevts hfqvtlndiq lqmeqhnern
      121 sklrqenmel aerlkklieq yelreehidk vfkhkdlqqq lvdaklqqaq emlkeaeerh
      181 qrekdfllke avesqrmcel mkqqethlkq qlalytekfe efqntlskss evfttfkqem
      241 ekmtkkikkl ekettmyrsr wessnkalle maeektvrdk eleglqvkiq rleklcralq
      301 terndlnkrv qdlsaggqgs ltdsgperrp egpgaqapss prvteapcyp gapsteasgq
      361 tgpqeptsar a
//
LOCUS       NP_060127                909 aa            linear   PRI 27-DEC-2022
DEFINITION  aftiphilin isoform b [Homo sapiens].
ACCESSION   NP_060127
VERSION     NP_060127.3
DBSOURCE    REFSEQ: accession NM_017657.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 909)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (residues 1 to 909)
  AUTHORS   Zhu T, Chen Y, Liu Z, Leng Y and Tian Y.
  TITLE     Expression profiles and prognostic significance of AFTPH in
            different tumors
  JOURNAL   FEBS Open Bio 10 (12), 2666-2677 (2020)
   PUBMED   33090728
  REMARK    GeneRIF: Expression profiles and prognostic significance of AFTPH
            in different tumors.
REFERENCE   3  (residues 1 to 909)
  AUTHORS   Lui-Roberts WW, Ferraro F, Nightingale TD and Cutler DF.
  TITLE     Aftiphilin and gamma-synergin are required for secretagogue
            sensitivity of Weibel-Palade bodies in endothelial cells
  JOURNAL   Mol Biol Cell 19 (12), 5072-5081 (2008)
   PUBMED   18815278
  REMARK    GeneRIF: Data show that by recruiting aftiphilin/gamma-synergin in
            addition to clathrin, AP-1 coordinates formation of Weibel-Palade
            bodies with their acquisition of a regulated secretory phenotype.
REFERENCE   4  (residues 1 to 909)
  AUTHORS   Beausoleil SA, Villen J, Gerber SA, Rush J and Gygi SP.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
REFERENCE   5  (residues 1 to 909)
  AUTHORS   Hirst J, Borner GH, Harbour M and Robinson MS.
  TITLE     The aftiphilin/p200/gamma-synergin complex
  JOURNAL   Mol Biol Cell 16 (5), 2554-2565 (2005)
   PUBMED   15758025
  REMARK    GeneRIF: the aftiphilin/p200/gamma-synergin complex facilitates
            AP-1 function
REFERENCE   6  (residues 1 to 909)
  AUTHORS   Burman JL, Wasiak S, Ritter B, de Heuvel E and McPherson PS.
  TITLE     Aftiphilin is a component of the clathrin machinery in neurons
  JOURNAL   FEBS Lett 579 (10), 2177-2184 (2005)
   PUBMED   15811338
REFERENCE   7  (residues 1 to 909)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   8  (residues 1 to 909)
  AUTHORS   Mattera R, Ritter B, Sidhu SS, McPherson PS and Bonifacino JS.
  TITLE     Definition of the consensus motif recognized by gamma-adaptin ear
            domains
  JOURNAL   J Biol Chem 279 (9), 8018-8028 (2004)
   PUBMED   14665628
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA815479.1, AK222821.1 and AK024658.1.
            On Jul 20, 2004 this sequence version replaced NP_060127.2.
            
            Transcript Variant: This variant (2) lacks an alternate exon and
            uses a different splice site in the 3' coding region, compared to
            variant 1. The resulting protein (isoform b) is shorter when
            compared to isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC047529.1, SRR1803613.41041.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..909
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p14"
     Protein         1..909
                     /product="aftiphilin isoform b"
                     /note="aftiphilin protein"
                     /calculated_mol_wt=99327
     Region          700..768
                     /region_name="Clathrin_bdg"
                     /note="Clathrin-binding box of Aftiphilin, vesicle
                     trafficking; pfam15045"
                     /db_xref="CDD:405694"
     CDS             1..909
                     /gene="AFTPH"
                     /gene_synonym="Nbla10388"
                     /coded_by="NM_017657.5:318..3047"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS1878.1"
                     /db_xref="GeneID:54812"
                     /db_xref="HGNC:HGNC:25951"
                     /db_xref="MIM:619628"
ORIGIN      
        1 mepdiirmys sspppldnga edddddefge fggfsevsps gvgfvdfdtp dytrpkeefv
       61 psnhfmpihe fsenvdslts fksikngndk ditaelsapv kgqsdvllst tskeiissem
      121 latsidgmer pgnlnkvveq rqnvgtlesf spgdfrtnmn vvhqnkqles cngekppcle
      181 iltngfavle tvnpqgtddl dnvadskgrk plsthsteyn ldsvpspaee fadfatfskk
      241 eriqleeiec avlndrealt irennkinrv nelnsvkeva lgrsldnkgd tdgedqvcvs
      301 eisivtnrgf svekqglptl qqdeflqsgv qskawslvds adnseairre qckteekldl
      361 ltskcahlcm dsvktsddev gspkeesrkf tnfqspnidp teendlddsl svkngdssnd
      421 fvtcndined dfgdfgdfgs asgstppfvt gtqdsmsdat feessehfph fsepgddfge
      481 fgdinavscq eetiltksdl kqtsdnlsee cqlarkssgt gtepvaklkn gqegeighfd
      541 svpniqddcn gfqdsddfad fssagpsqvv dwnafedeqk dscswaafgd qqateshhrk
      601 eawqshrtde nidtpgtpkt hsvpsatskg avasghlqes atsvqtalln rlerifeacf
      661 psilvpdaee evtslkhlle tstlpiktre alpesgelld vwtelqdihd ahglryqwgg
      721 shsnkkllss lgidtrnilf tgnkkqpviv pmyaaglgml eptkeplkpl saaekiasig
      781 qtatmspdmn tctsdqfqes lppvqfdwss sgltnpldgv dpelyeltts kleistsslk
      841 vtdafarlms tvektststs rkpkreehls eeaikviagl pdltfmhakv lmfpatltps
      901 tssqekadg
//
LOCUS       NP_001307839             395 aa            linear   PRI 27-DEC-2022
DEFINITION  GA-binding protein subunit beta-1 isoform beta 1 [Homo sapiens].
ACCESSION   NP_001307839 XP_005254330
VERSION     NP_001307839.1
DBSOURCE    REFSEQ: accession NM_001320910.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 395)
  AUTHORS   Pinho SA, Costa CF, Deus CM, Pinho SLC, Miranda-Santos I, Afonso G,
            Bagshaw O, Stuart JA, Oliveira PJ and Cunha-Oliveira T.
  TITLE     Mitochondrial and metabolic remodelling in human skin fibroblasts
            in response to glucose availability
  JOURNAL   FEBS J 289 (17), 5198-5217 (2022)
   PUBMED   35213938
REFERENCE   2  (residues 1 to 395)
  AUTHORS   Xu P, Xu X, Liu J, Hu H, Shen H and Chen C.
  TITLE     Association of single nucleotide polymorphisms in the nuclear
            respiratory factor-2 beta subunit-encoding the GABPB1 gene within
            the occupational environment
  JOURNAL   Toxicol Ind Health 38 (4), 193-200 (2022)
   PUBMED   35343317
  REMARK    GeneRIF: Association of single nucleotide polymorphisms in the
            nuclear respiratory factor-2 beta subunit-encoding the GABPB1 gene
            within the occupational environment.
REFERENCE   3  (residues 1 to 395)
  AUTHORS   Amen AM, Fellmann C, Soczek KM, Ren SM, Lew RJ, Knott GJ, Park JE,
            McKinney AM, Mancini A, Doudna JA and Costello JF.
  TITLE     Cancer-specific loss of TERT activation sensitizes glioblastoma to
            DNA damage
  JOURNAL   Proc Natl Acad Sci U S A 118 (13) (2021)
   PUBMED   33758097
  REMARK    GeneRIF: Cancer-specific loss of TERT activation sensitizes
            glioblastoma to DNA damage.
REFERENCE   4  (residues 1 to 395)
  AUTHORS   Guilherme JPLF, Souza-Junior TP and Lancha Junior AH.
  TITLE     Association study of performance-related polymorphisms in Brazilian
            combat-sport athletes highlights variants in the GABPB1 gene
  JOURNAL   Physiol Genomics 53 (2), 47-50 (2021)
   PUBMED   33346691
  REMARK    GeneRIF: Association study of performance-related polymorphisms in
            Brazilian combat-sport athletes highlights variants in the GABPB1
            gene.
REFERENCE   5  (residues 1 to 395)
  AUTHORS   Zhang P, Zhang H and Wang Y.
  TITLE     FGFR4 promotes nuclear localization of GABP to inhibit cell
            apoptosis in uterine leiomyosarcoma
  JOURNAL   Cell Tissue Res 383 (2), 865-879 (2021)
   PUBMED   33151453
  REMARK    GeneRIF: FGFR4 promotes nuclear localization of GABP to inhibit
            cell apoptosis in uterine leiomyosarcoma.
REFERENCE   6  (residues 1 to 395)
  AUTHORS   Gugneja S, Virbasius JV and Scarpulla RC.
  TITLE     Four structurally distinct, non-DNA-binding subunits of human
            nuclear respiratory factor 2 share a conserved transcriptional
            activation domain
  JOURNAL   Mol Cell Biol 15 (1), 102-111 (1995)
   PUBMED   7799916
REFERENCE   7  (residues 1 to 395)
  AUTHORS   Sawada J, Goto M, Watanabe H, Handa H and Yoshida MC.
  TITLE     Regional mapping of two subunits of transcription factor E4TF1 to
            human chromosome
  JOURNAL   Jpn J Cancer Res 86 (1), 10-12 (1995)
   PUBMED   7737900
REFERENCE   8  (residues 1 to 395)
  AUTHORS   de la Brousse FC, Birkenmeier EH, King DS, Rowe LB and McKnight SL.
  TITLE     Molecular and genetic characterization of GABP beta
  JOURNAL   Genes Dev 8 (15), 1853-1865 (1994)
   PUBMED   7958862
REFERENCE   9  (residues 1 to 395)
  AUTHORS   Watanabe H, Sawada J, Yano K, Yamaguchi K, Goto M and Handa H.
  TITLE     cDNA cloning of transcription factor E4TF1 subunits with Ets and
            notch motifs
  JOURNAL   Mol Cell Biol 13 (3), 1385-1391 (1993)
   PUBMED   8441384
REFERENCE   10 (residues 1 to 395)
  AUTHORS   Virbasius JV, Virbasius CA and Scarpulla RC.
  TITLE     Identity of GABP with NRF-2, a multisubunit activator of cytochrome
            oxidase expression, reveals a cellular role for an ETS domain
            activator of viral promoters
  JOURNAL   Genes Dev 7 (3), 380-392 (1993)
   PUBMED   8383622
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022087.8.
            On Mar 10, 2016 this sequence version replaced XP_005254330.1.
            
            Summary: This gene encodes the GA-binding protein transcription
            factor, beta subunit. This protein forms a tetrameric complex with
            the alpha subunit, and stimulates transcription of target genes.
            The encoded protein may be involved in activation of cytochrome
            oxidase expression and nuclear control of mitochondrial function.
            The crystal structure of a similar protein in mouse has been
            resolved as a ternary protein complex. Multiple transcript variants
            encoding distinct isoforms have been identified for this gene.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.169884.1,
                                           SRR18074967.256950.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..395
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.2"
     Protein         1..395
                     /product="GA-binding protein subunit beta-1 isoform beta
                     1"
                     /EC_number="3.2.1.3"
                     /note="GABP subunit beta-2; transcription factor E4TF1-47;
                     transcription factor E4TF1-53; GA binding protein
                     transcription factor beta subunit 1; nuclear respiratory
                     factor 2"
                     /calculated_mol_wt=42352
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q06547.2)"
     Region          5..34
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06547.2)"
     Region          10..58
                     /region_name="Ank_4"
                     /note="Ankyrin repeats (many copies); pfam13637"
                     /db_xref="CDD:372654"
     Region          10..35
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          37..66
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06547.2)"
     Region          38..68
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(39,43..44,47..49,51..52,56,59,68,70,72,76..77,
                     80..82,84..85,89,92,101,103,105,109..110,113..115,
                     117..118,122,125)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          42..133
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Site            69
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q00420; propagated from
                     UniProtKB/Swiss-Prot (Q06547.2)"
     Region          70..101
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          70..99
                     /region_name="ANK 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06547.2)"
     Region          103..133
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          103..132
                     /region_name="ANK 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06547.2)"
     Region          136..166
                     /region_name="ANK 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06547.2)"
     Region          258..327
                     /region_name="Transcription activation and HCFC1
                     interaction"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06547.2)"
     Region          335..382
                     /region_name="MobB_NDR_LATS-like"
                     /note="Mob-binding domain found in the NDR/LATS family
                     serine/threonine protein kinases; cl45907"
                     /db_xref="CDD:459252"
     Site            352
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q00420; propagated from
                     UniProtKB/Swiss-Prot (Q06547.2)"
     Site            381
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q00420; propagated from
                     UniProtKB/Swiss-Prot (Q06547.2)"
     CDS             1..395
                     /gene="GABPB1"
                     /gene_synonym="BABPB2; E4TF1; E4TF1-47; E4TF1-53; E4TF1B;
                     GABPB; GABPB-1; GABPB2; NRF2B1; NRF2B2"
                     /coded_by="NM_001320910.2:239..1426"
                     /note="isoform beta 1 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS32239.1"
                     /db_xref="GeneID:2553"
                     /db_xref="HGNC:HGNC:4074"
                     /db_xref="MIM:600610"
ORIGIN      
        1 mslvdlgkkl leaaragqdd evrilmanga pfttdwlgts plhlaaqygh ysttevllra
       61 gvsrdartkv drtplhmaas eghasivevl lkhgadvnak dmlkmtalhw atehnhqevv
      121 ellikygadv htqskfckta fdisidngne dlaeilqiam qnqintnpes pdtvtihaat
      181 pqfiigpggv vnltglvsse nsskatdetg vsavqfgnss tsvlatlaal aeasaplsns
      241 setpvvatee vvtaesvdga iqqvvssggq qvitivtdgi qlgnlhsipt sgigqpiivt
      301 mpdgqqvltv patdiaeetv iseeppakrq cieiienrve saeieereal qkqldeanre
      361 aqkyrqqllk keqeaeayrq kleamtrlqt nkeav
//
LOCUS       NP_689735                226 aa            linear   PRI 27-DEC-2022
DEFINITION  ADP-ribosylation factor-like protein 6-interacting protein 6
            isoform a [Homo sapiens].
ACCESSION   NP_689735
VERSION     NP_689735.1
DBSOURCE    REFSEQ: accession NM_152522.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 226)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 226)
  AUTHORS   Abumansour IS, Hijazi H, Alazmi A, Alzahrani F, Bashiri FA, Hassan
            H, Alhaddab M and Alkuraya FS.
  TITLE     ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in
            a patient with syndromic Cutis Marmorata Telangiectatica Congenita
  JOURNAL   Hum Genet 134 (8), 815-822 (2015)
   PUBMED   25957586
  REMARK    GeneRIF: ARL6IP6 as a novel candidate gene for a syndromic form of
            CMTC.
REFERENCE   3  (residues 1 to 226)
  AUTHORS   Ingley E, Williams JH, Walker CE, Tsai S, Colley S, Sayer MS,
            Tilbrook PA, Sarna M, Beaumont JG and Klinken SP.
  TITLE     A novel ADP-ribosylation like factor (ARL-6), interacts with the
            protein-conducting channel SEC61beta subunit
  JOURNAL   FEBS Lett 459 (1), 69-74 (1999)
   PUBMED   10508919
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC079344.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.2706632.1,
                                           SRR18074969.1592613.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326446.10/ ENSP00000315357.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..226
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q23.3"
     Protein         1..226
                     /product="ADP-ribosylation factor-like protein
                     6-interacting protein 6 isoform a"
                     /note="ADP-ribosylation factor-like protein 6-interacting
                     protein 6; regulated by phosphonoformate; phosphonoformate
                     immuno-associated protein 1; ARL-6-interacting protein 6;
                     ADP-ribosylation-like factor 6 interacting protein 6;
                     ADP-ribosylation factor GTPase 6 interacting protein 6;
                     ADP-ribosylation factor-like 6 interacting protein 6"
                     /calculated_mol_wt=24545
     Region          1..48
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6S5.1)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q8N6S5.1)"
     Site            36
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q8N6S5.1)"
     Site            60
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8N6S5.1)"
     Site            65
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8N6S5.1)"
     Region          66..85
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6S5.1)"
     Site            80
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N6S5.1)"
     Site            111..131
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6S5.1)"
     Region          138..214
                     /region_name="ARL6IP6"
                     /note="Haemopoietic lineage transmembrane helix;
                     pfam15062"
                     /db_xref="CDD:405709"
     Site            150..170
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6S5.1)"
     Site            205..225
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6S5.1)"
     CDS             1..226
                     /gene="ARL6IP6"
                     /gene_synonym="AIP-6; AIP6; PFAAP1"
                     /coded_by="NM_152522.7:6..686"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2197.1"
                     /db_xref="GeneID:151188"
                     /db_xref="HGNC:HGNC:24048"
                     /db_xref="MIM:616495"
ORIGIN      
        1 msfaesgwrs alrrrgpgtp gpvarpsyss ftqgdswgeg evdeeegcdq vardlraefs
       61 agawseprkr svlppdgngs pvlpdkrngi fpaaagsraq prrwpvqvls ilcsllfail
      121 lafllaiayl ivkelhaenl kneddvdtgl lgfwtlliis ltagfsccsf swtvtyfdsf
      181 epgmfpptpl sparfkkltg hsfhmgysma ilngivaalt vawclm
//
LOCUS       NP_001340942             308 aa            linear   PRI 27-DEC-2022
DEFINITION  ras-related GTP-binding protein B isoform 4 [Homo sapiens].
ACCESSION   NP_001340942 XP_016884706
VERSION     NP_001340942.1
DBSOURCE    REFSEQ: accession NM_001354013.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 308)
  AUTHORS   Li X, Wang J, Lin W, Yuan Q, Lu Y, Wang H, Chen Y, Chen L, Dai P,
            Long H and Li X.
  TITLE     circEXOC6B interacting with RRAGB, an mTORC1 activator, inhibits
            the progression of colorectal cancer by antagonizing the
            HIF1A-RRAGB-mTORC1 positive feedback loop
  JOURNAL   Mol Cancer 21 (1), 135 (2022)
   PUBMED   35739524
  REMARK    GeneRIF: circEXOC6B interacting with RRAGB, an mTORC1 activator,
            inhibits the progression of colorectal cancer by antagonizing the
            HIF1A-RRAGB-mTORC1 positive feedback loop.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 308)
  AUTHORS   Xiao J, Liu Q, Wu W, Yuan Y, Zhou J, Shi J and Zhou S.
  TITLE     Elevated Ras related GTP binding B (RRAGB) expression predicts poor
            overall survival and constructs a prognostic nomogram for colon
            adenocarcinoma
  JOURNAL   Bioengineered 12 (1), 4620-4632 (2021)
   PUBMED   34320917
  REMARK    GeneRIF: Elevated Ras related GTP binding B (RRAGB) expression
            predicts poor overall survival and constructs a prognostic nomogram
            for colon adenocarcinoma.
REFERENCE   3  (residues 1 to 308)
  AUTHORS   Shi Y, Xu S, Ngoi NYL, Hui Y and Ye Z.
  TITLE     Rag GTPases suppress PRL-3 degradation and predict poor clinical
            diagnosis of cancer patients with low PRL-3 mRNA expression
  JOURNAL   Biochem Biophys Res Commun 576, 108-116 (2021)
   PUBMED   34482023
  REMARK    GeneRIF: Rag GTPases suppress PRL-3 degradation and predict poor
            clinical diagnosis of cancer patients with low PRL-3 mRNA
            expression.
REFERENCE   4  (residues 1 to 308)
  AUTHORS   Shibutani S, Okazaki H and Iwata H.
  TITLE     Dynamin-dependent amino acid endocytosis activates mechanistic
            target of rapamycin complex 1 (mTORC1)
  JOURNAL   J Biol Chem 292 (44), 18052-18061 (2017)
   PUBMED   28808055
  REMARK    GeneRIF: Data suggest DNM2/RRAGB- (or DNM2/RRAGC-)dependent
            endocytosis of extracellular amino acids (AAs) plays critical role
            in mTORC1 transport/activation; recruitment of mTORC1 from
            cytoplasm to lysosome is suppressed by DNM2 inhibition; AA
            deprivation appears to be main cause of mTORC1 inactivation via
            DNM2 inhibition. (RHEB = Ras homolog enriched in brain; DNM2 =
            dynamin II; RRAG = Ras-related GTP binding protein)
REFERENCE   5  (residues 1 to 308)
  AUTHORS   Wang S, Tsun ZY, Wolfson RL, Shen K, Wyant GA, Plovanich ME, Yuan
            ED, Jones TD, Chantranupong L, Comb W, Wang T, Bar-Peled L, Zoncu
            R, Straub C, Kim C, Park J, Sabatini BL and Sabatini DM.
  TITLE     Metabolism. Lysosomal amino acid transporter SLC38A9 signals
            arginine sufficiency to mTORC1
  JOURNAL   Science 347 (6218), 188-194 (2015)
   PUBMED   25567906
REFERENCE   6  (residues 1 to 308)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D,
            Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL,
            Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles
            ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman
            R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P,
            Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E,
            Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA,
            Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A,
            Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM,
            Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N,
            Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford
            EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J,
            Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E,
            Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke
            G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V,
            Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis
            C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H,
            Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ,
            Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL,
            Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert
            J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock
            R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD,
            Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M,
            Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob
            L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S,
            Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A,
            Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L,
            Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD,
            Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall
            J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G,
            Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N,
            Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R,
            Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM,
            Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S,
            Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C,
            Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC,
            Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor
            PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K,
            Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana
            D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A,
            Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G,
            Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL,
            Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D,
            Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ,
            Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M,
            Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T,
            Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   7  (residues 1 to 308)
  AUTHORS   Tomarev SI, Wistow G, Raymond V, Dubois S and Malyukova I.
  TITLE     Gene expression profile of the human trabecular meshwork: NEIBank
            sequence tag analysis
  JOURNAL   Invest Ophthalmol Vis Sci 44 (6), 2588-2596 (2003)
   PUBMED   12766061
REFERENCE   8  (residues 1 to 308)
  AUTHORS   Sekiguchi T, Hirose E, Nakashima N, Ii M and Nishimoto T.
  TITLE     Novel G proteins, Rag C and Rag D, interact with GTP-binding
            proteins, Rag A and Rag B
  JOURNAL   J Biol Chem 276 (10), 7246-7257 (2001)
   PUBMED   11073942
REFERENCE   9  (residues 1 to 308)
  AUTHORS   Hirose E, Nakashima N, Sekiguchi T and Nishimoto T.
  TITLE     RagA is a functional homologue of S. cerevisiae Gtr1p involved in
            the Ran/Gsp1-GTPase pathway
  JOURNAL   J Cell Sci 111 (Pt 1), 11-21 (1998)
   PUBMED   9394008
REFERENCE   10 (residues 1 to 308)
  AUTHORS   Schurmann A, Brauers A, Massmann S, Becker W and Joost HG.
  TITLE     Cloning of a novel family of mammalian GTP-binding proteins (RagA,
            RagBs, RagB1) with remote similarity to the Ras-related GTPases
  JOURNAL   J Biol Chem 270 (48), 28982-28988 (1995)
   PUBMED   7499430
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL159987.19 and AL139277.7.
            On Aug 29, 2017 this sequence version replaced XP_016884706.1.
            
            Summary: Ras-homologous GTPases constitute a large family of signal
            transducers that alternate between an activated, GTP-binding state
            and an inactivated, GDP-binding state. These proteins represent
            cellular switches that are operated by GTP-exchange factors and
            factors that stimulate their intrinsic GTPase activity. All GTPases
            of the Ras superfamily have in common the presence of six conserved
            motifs involved in GTP/GDP binding, three of which are
            phosphate-/magnesium-binding sites (PM1-PM3) and three of which are
            guanine nucleotide-binding sites (G1-G3). Transcript variants
            encoding distinct isoforms have been identified. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.399430.1,
                                           SRR3476690.319833.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.21"
     Protein         1..308
                     /product="ras-related GTP-binding protein B isoform 4"
                     /note="GTP-binding protein ragB; ras-related GTP-binding
                     protein B; rag B"
                     /calculated_mol_wt=35917
     Region          4..287
                     /region_name="RagA_like"
                     /note="Rag GTPase, subfamily of Ras-related GTPases,
                     includes Ras-related GTP-binding proteins A and B;
                     cd11384"
                     /db_xref="CDD:206744"
     Site            9..16
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206744"
     Site            order(14..17,60,122..123,125,158..160)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206744"
     Site            37
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206744"
     Site            41..43
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206744"
     Site            57..60
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206744"
     Site            order(59..60,81..82)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206744"
     Site            122..125
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206744"
     Site            158..160
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206744"
     Site            order(197,199,222,225..226,229..230,233,236..237,239,
                     242..249,256,268)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:206744"
     CDS             1..308
                     /gene="RRAGB"
                     /gene_synonym="bA465E19.1; RAGB"
                     /coded_by="NM_001354013.2:63..989"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:10325"
                     /db_xref="HGNC:HGNC:19901"
                     /db_xref="MIM:300725"
ORIGIN      
        1 mkkkvllmgk sgsgktsmrs iifanyiard trrlgatidv ehshvrflgn lvlnlwdcgg
       61 qdtfmenyft sqrdnifrnv evliyvfdve srelekdmhy yqscleailq nspdakifcl
      121 vhkmdlvqed qrdlifkere edlrrlsrpl ecscfrtsiw detlykawss ivyqlipnvq
      181 qlemnlrnfa eiieadevll feratflvis hyqckeqrda hrfekisnii kqfklscskl
      241 aasfqsmevr nsnfaafidi ftsntyvmvv msdpsipsaa tlinirnark hfeklervdg
      301 pkqcllmr
//
LOCUS       NP_851789                116 aa            linear   PRI 28-DEC-2022
DEFINITION  CKLF-like MARVEL transmembrane domain-containing protein 1 isoform
            4 [Homo sapiens].
ACCESSION   NP_851789
VERSION     NP_851789.1
DBSOURCE    REFSEQ: accession NM_181272.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 116)
  AUTHORS   Si J, Zhang P, Tian D, Wang X, Ma Y, Zhang J, Wang L and Yang Y.
  TITLE     CMTM1_v17 is associated with chemotherapy resistance and poor
            prognosis in non-small cell lung cancer
  JOURNAL   World J Surg Oncol 15 (1), 34 (2017)
   PUBMED   28129775
  REMARK    GeneRIF: High CMTM1_v17 expression was associated with chemotherapy
            resistance in lung cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 116)
  AUTHORS   Delic S, Thuy A, Schulze M, Proescholdt MA, Dietrich P, Bosserhoff
            AK and Riemenschneider MJ.
  TITLE     Systematic investigation of CMTM family genes suggests relevance to
            glioblastoma pathogenesis and CMTM1 and CMTM3 as priority targets
  JOURNAL   Genes Chromosomes Cancer 54 (7), 433-443 (2015)
   PUBMED   25931111
  REMARK    GeneRIF: CMTM1 and 3 are priority targets in glioblastomas. First
            insights into signalling of these two genes that might be conveyed
            by growth factor receptor, Src family kinase and WNT activation was
            presented.
REFERENCE   3  (residues 1 to 116)
  AUTHORS   Wang J, Zhang G, Zhang Y, Luo Y, Song Q, Qiu X, Mo X and Wang L.
  TITLE     CMTM1_v17 is a novel potential therapeutic target in breast cancer
  JOURNAL   Oncol Rep 32 (5), 1829-1836 (2014)
   PUBMED   25175386
  REMARK    GeneRIF: Study shows that CMTM1_v17 is highly expressed in human
            testis and many human tumor tissues and cell lines and seems to
            enhance cell proliferation and resistance to tumor necrosis
            factor-alpha (TNF-alpha)-induced apoptosis in MDA-MB-231 breast
            cancer cells.
REFERENCE   4  (residues 1 to 116)
  AUTHORS   Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML and Seielstad M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 116)
  AUTHORS   Xu M, Yang S, Gao Y, Shi S and Ma D.
  TITLE     A functional promoter region of the CKLFSF2 gene is located in the
            last intron/exon region of the upstream CKLFSF1 gene
  JOURNAL   Int J Biochem Cell Biol 37 (6), 1296-1307 (2005)
   PUBMED   15778092
  REMARK    GeneRIF: novel evidence that the final intron/exon region of the
            CKLFSF1 gene contains a novel eukaryotic promoter capable of
            directing expression of the downstream gene, CKLFSF2
REFERENCE   6  (residues 1 to 116)
  AUTHORS   Wang L, Wu C, Zheng Y, Qiu X, Wang L, Fan H, Han W, Lv B, Wang Y,
            Zhu X, Xu M, Ding P, Cheng S, Zhang Y, Song Q and Ma D.
  TITLE     Molecular cloning and characterization of chemokine-like factor
            super family member 1 (CKLFSF1), a novel human gene with at least
            23 alternative splicing isoforms in testis tissue
  JOURNAL   Int J Biochem Cell Biol 36 (8), 1492-1501 (2004)
   PUBMED   15147728
  REMARK    GeneRIF: gene structure, mapping to chromsome 16, identification of
            altenative transcription start sites, expression in spermatocyte
            and testes
REFERENCE   7  (residues 1 to 116)
  AUTHORS   Han W, Ding P, Xu M, Wang L, Rui M, Shi S, Liu Y, Zheng Y, Chen Y,
            Yang T and Ma D.
  TITLE     Identification of eight genes encoding chemokine-like factor
            superfamily members 1-8 (CKLFSF1-8) by in silico cloning and
            experimental validation
  JOURNAL   Genomics 81 (6), 609-617 (2003)
   PUBMED   12782130
  REMARK    GeneRIF: Bioinformatics based on CKLF2 cDNA and protein sequences
            in combination with experimental validation identified CKLFSF1-8
            gene clusters, between the SCY and the TM4SF gene families. The 8
            family members were cloned and characterized.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DN992496.1 and AY174121.1.
            
            Summary: This gene belongs to the chemokine-like factor gene
            superfamily, a novel family that is similar to the chemokine and
            the transmembrane 4 superfamilies of signaling molecules. The
            protein encoded by this gene may play an important role in
            testicular development. Alternatively spliced transcript variants
            encoding different isoforms have been identified. Naturally
            occurring read-through transcription occurs between this locus and
            the neighboring locus CKLF (chemokine-like factor).[provided by
            RefSeq, Feb 2011].
            
            Transcript Variant: This variant (4) has multiple differences in
            the 5' coding region, compared to variant 17. The encoded isoform
            (4) is shorter than the protein (isoform 13) encoded by variant 17.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY174121.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2151119
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..116
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q21"
     Protein         1..116
                     /product="CKLF-like MARVEL transmembrane domain-containing
                     protein 1 isoform 4"
                     /note="chemokine-like factor-like protein CKLFH1;
                     chemokine-like factor super family 1; CKLF-like MARVEL
                     transmembrane domain-containing protein 1; chemokine-like
                     factor superfamily 1; chemokine-like factor superfamily
                     member 1"
                     /calculated_mol_wt=12417
     CDS             1..116
                     /gene="CMTM1"
                     /gene_synonym="CKLFH; CKLFH1; CKLFSF1"
                     /coded_by="NM_181272.3:76..426"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS10811.1"
                     /db_xref="GeneID:113540"
                     /db_xref="HGNC:HGNC:19172"
                     /db_xref="MIM:607884"
ORIGIN      
        1 mdpehakpes seapsgnlkq petaaaldlt nsiitavfls vvailamqek krrhllyvgg
       61 slcltavivc cidafvvttk mrtnlkrflg veverklspa kdaypetgpd apqrpa
//
LOCUS       NP_001339070             567 aa            linear   PRI 28-DEC-2022
DEFINITION  zinc finger protein 415 isoform 8 [Homo sapiens].
ACCESSION   NP_001339070 XP_016882462
VERSION     NP_001339070.1
DBSOURCE    REFSEQ: accession NM_001352141.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 567)
  AUTHORS   Kobayashi Y, Umemoto T, Takeshita Y, Kohyama N, Ohbayashi M, Sanada
            Y and Yamamoto T.
  TITLE     Functional characterization and substrate specificity of a novel
            gene encoding zinc finger-like protein, ZfLp, in Xenopus laevis
            oocytes
  JOURNAL   J Toxicol Sci 37 (4), 699-709 (2012)
   PUBMED   22863851
  REMARK    GeneRIF: ZfLp is a zinc finger protein that functions as a drug
            carrier protein.
REFERENCE   2  (residues 1 to 567)
  AUTHORS   Cheng Y, Wang Y, Li Y, Deng Y, Hu J, Mo X, Li N, Li Y, Luo N, Yuan
            W, Xiao J, Zhu C, Wu X and Liu M.
  TITLE     A novel human gene ZNF415 with five isoforms inhibits AP-1- and
            p53-mediated transcriptional activity
  JOURNAL   Biochem Biophys Res Commun 351 (1), 33-39 (2006)
   PUBMED   17055453
  REMARK    GeneRIF: ZNF415 isoforms in COS-7 cells inhibits the
            transcriptional activities of AP-1 and p53, suggesting that the
            ZNF415 protein may be involved in AP-1- and p53-mediated
            transcriptional activity.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA692431.1, DA348212.1, DB173728.1, AC010328.4 and R40095.1.
            On Jun 7, 2017 this sequence version replaced XP_016882462.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.3318530.1,
                                           SRR1803614.178293.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..567
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..567
                     /product="zinc finger protein 415 isoform 8"
                     /calculated_mol_wt=64498
     Region          <124..386
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          232..250
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          256..>551
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          258..278
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(263,265,267,269..270,273..274,277,291,293,297..298,
                     301..302,305,319,321,323,325..326,329..330,333)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          286..306
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          314..334
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          342..362
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          370..390
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(375,377,379,381..382,385..386,389,403,405,409..410,
                     413..414,417,431,433,435,437..438,441..442,445)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          398..418
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          426..446
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          454..474
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          482..502
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          510..530
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          538..558
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..567
                     /gene="ZNF415"
                     /gene_synonym="Pact; ZfLp"
                     /coded_by="NM_001352141.2:423..2126"
                     /note="isoform 8 is encoded by transcript variant 17"
                     /db_xref="GeneID:55786"
                     /db_xref="HGNC:HGNC:20636"
                     /db_xref="MIM:619506"
ORIGIN      
        1 mpelytedfi qgcdvgelqe pglpglecng aisahcnlrl pdsndspasa srvagitdls
       61 rncvikelap qqegnpgevf htvtleqhek hdieefcfre ikkkihdfdc qwrdderncn
      121 kvttapkenl tcrrdqrdrr gignksikhq lglsflphph elqqfqaegk iyecnhveks
      181 vnhgssvspp qiisstikth vsnkygtdfi csslltqeqk scirekpyry iecdkalnhg
      241 shmtvrqvsh sgekgykcdl cgkvfsqksn larhwrvhtg ekpykcnecd rsfsrnscla
      301 lhrrvhtgek pykcyecdkv fsrnsclalh qkthigekpy tckecgkafs vrstltnhqv
      361 ihsgkkpykc necgkvfsqt sslathqrih tgekpykcne cgkvfsqtss larhwrihtg
      421 ekpykcnecg kvfsynshla shrrvhtgek pykcnecgka fsvhsnltth qvihtgekpy
      481 kcnqcgkgfs vhssltthqv ihtgekpykc necgksfsvr pnltrhqiih tgkkpykcsd
      541 cgksfsvrpn lfrhqiihtk ekpykrn
//
LOCUS       NP_001369673             361 aa            linear   PRI 29-DEC-2022
DEFINITION  3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase
            FUT3 [Homo sapiens].
ACCESSION   NP_001369673
VERSION     NP_001369673.1
DBSOURCE    REFSEQ: accession NM_001382744.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 361)
  AUTHORS   Gazi MA, Fahim SM, Hasan MM, Hossaini F, Alam MA, Hossain MS,
            Hossain MD, Das S, Haque R, Mahfuz M and Ahmed T.
  TITLE     Maternal and child FUT2 and FUT3 status demonstrate relationship
            with gut health, body composition and growth of children in
            Bangladesh
  JOURNAL   Sci Rep 12 (1), 18764 (2022)
   PUBMED   36335265
  REMARK    GeneRIF: Maternal and child FUT2 and FUT3 status demonstrate
            relationship with gut health, body composition and growth of
            children in Bangladesh.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 361)
  AUTHORS   Soejima M and Koda Y.
  TITLE     Estimation of Lewis-negative alleles by high-resolution melting
            analysis of three tag SNPs of FUT3
  JOURNAL   Vox Sang 117 (2), 282-287 (2022)
   PUBMED   34156094
  REMARK    GeneRIF: Estimation of Lewis-negative alleles by high-resolution
            melting analysis of three tag SNPs of FUT3.
REFERENCE   3  (residues 1 to 361)
  AUTHORS   Hu X, Chen F, Ji W and Wang Y.
  TITLE     Correlations of FUT3 gene polymorphisms with colon polyps
  JOURNAL   Cell Cycle 21 (2), 117-125 (2022)
   PUBMED   34936845
  REMARK    GeneRIF: Correlations of FUT3 gene polymorphisms with colon polyps.
REFERENCE   4  (residues 1 to 361)
  AUTHORS   Farahmand M, Jalilvand S, Arashkia A, Izadi A, Forouzannia SM,
            Mollaei-Kandelous Y and Shoja Z.
  TITLE     Estimation of genetic variation in the Secretor and Lewis genes in
            Iranian hospitalized children
  JOURNAL   Transfus Clin Biol 28 (1), 11-15 (2021)
   PUBMED   33301983
  REMARK    GeneRIF: Estimation of genetic variation in the Secretor and Lewis
            genes in Iranian hospitalized children.
REFERENCE   5  (residues 1 to 361)
  AUTHORS   Kononova SV.
  TITLE     How Fucose of Blood Group Glycotopes Programs Human Gut Microbiota
  JOURNAL   Biochemistry (Mosc) 82 (9), 973-989 (2017)
   PUBMED   28988527
  REMARK    Review article
            Erratum:[Biochemistry (Mosc). 2017 Oct;82(10 ):1215. PMID:
            29037143]
REFERENCE   6  (residues 1 to 361)
  AUTHORS   Soejima M and Koda Y.
  TITLE     Molecular mechanisms of Lewis antigen expression
  JOURNAL   Leg Med (Tokyo) 7 (4), 266-269 (2005)
   PUBMED   15946883
  REMARK    Review article
REFERENCE   7  (residues 1 to 361)
  AUTHORS   Cameron HS, Szczepaniak D and Weston BW.
  TITLE     Expression of human chromosome 19p alpha(1,3)-fucosyltransferase
            genes in normal tissues. Alternative splicing, polyadenylation, and
            isoforms
  JOURNAL   J Biol Chem 270 (34), 20112-20122 (1995)
   PUBMED   7650030
REFERENCE   8  (residues 1 to 361)
  AUTHORS   Reguigne-Arnould I, Couillin P, Mollicone R, Faure S, Fletcher A,
            Kelly RJ, Lowe JB and Oriol R.
  TITLE     Relative positions of two clusters of human
            alpha-L-fucosyltransferases in 19q (FUT1-FUT2) and 19p
            (FUT6-FUT3-FUT5) within the microsatellite genetic map of
            chromosome 19
  JOURNAL   Cytogenet Cell Genet 71 (2), 158-162 (1995)
   PUBMED   7656588
REFERENCE   9  (residues 1 to 361)
  AUTHORS   Weston BW, Nair RP, Larsen RD and Lowe JB.
  TITLE     Isolation of a novel human alpha (1,3)fucosyltransferase gene and
            molecular comparison to the human Lewis blood group alpha
            (1,3/1,4)fucosyltransferase gene. Syntenic, homologous, nonallelic
            genes encoding enzymes with distinct acceptor substrate
            specificities
  JOURNAL   J Biol Chem 267 (6), 4152-4160 (1992)
   PUBMED   1740457
REFERENCE   10 (residues 1 to 361)
  AUTHORS   Kukowska-Latallo JF, Larsen RD, Nair RP and Lowe JB.
  TITLE     A cloned human cDNA determines expression of a mouse stage-specific
            embryonic antigen and the Lewis blood group
            alpha(1,3/1,4)fucosyltransferase
  JOURNAL   Genes Dev 4 (8), 1288-1303 (1990)
   PUBMED   1977660
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC024592.5 and U27328.1.
            
            Summary: The Lewis histo-blood group system comprises a set of
            fucosylated glycosphingolipids that are synthesized by exocrine
            epithelial cells and circulate in body fluids. The
            glycosphingolipids function in embryogenesis, tissue
            differentiation, tumor metastasis, inflammation, and bacterial
            adhesion. They are secondarily absorbed to red blood cells giving
            rise to their Lewis phenotype. This gene is a member of the
            fucosyltransferase family, which catalyzes the addition of fucose
            to precursor polysaccharides in the last step of Lewis antigen
            biosynthesis. It encodes an enzyme with
            alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase
            activities. Mutations in this gene are responsible for the majority
            of Lewis antigen-negative phenotypes. Differences in the expression
            of this gene are associated with host susceptibility to viral
            infection. [provided by RefSeq, Aug 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AF131913.1, BC108675.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1968540,
                                    SAMEA2142348 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: relevant for disease process
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..361
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..361
                     /product="3-galactosyl-N-acetylglucosaminide
                     4-alpha-L-fucosyltransferase FUT3"
                     /EC_number="2.4.1.65"
                     /EC_number="2.4.1.152"
                     /note="fucosyltransferase 3 (galactoside
                     3(4)-L-fucosyltransferase, Lewis blood group);
                     alpha-3-fucosyltransferase FUT3; blood group Lewis
                     alpha-4-fucosyltransferase; Lewis FT;
                     alpha-(1,3/1,4)-fucosyltransferase; fucosyltransferase
                     III; 3-galactosyl-N-acetylglucosaminide
                     4-alpha-L-fucosyltransferase 3;
                     4-galactosyl-N-acetylglucosaminide
                     3-alpha-L-fucosyltransferase"
                     /calculated_mol_wt=41986
     Site            16..34
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P21217.1)"
     Region          39..58
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P21217.1)"
     Region          60..170
                     /region_name="Glyco_tran_10_N"
                     /note="Fucosyltransferase, N-terminal; pfam17039"
                     /db_xref="CDD:435707"
     Site            154
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from
                     UniProtKB/Swiss-Prot (P21217.1)"
     Site            185
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from
                     UniProtKB/Swiss-Prot (P21217.1)"
     Region          186..359
                     /region_name="Glyco_transf_10"
                     /note="Glycosyltransferase family 10 (fucosyltransferase)
                     C-term; pfam00852"
                     /db_xref="CDD:425907"
     CDS             1..361
                     /gene="FUT3"
                     /gene_synonym="CD174; FT3B; FucT-III; LE; Les"
                     /coded_by="NM_001382744.1:305..1390"
                     /db_xref="CCDS:CCDS12153.1"
                     /db_xref="GeneID:2525"
                     /db_xref="HGNC:HGNC:4014"
                     /db_xref="MIM:111100"
ORIGIN      
        1 mdplgaakpq wpwrrclaal lfqllvavcf fsylrvsrdd atgsprapsg ssrqdttptr
       61 ptllillwtw pfhipvalsr csemvpgtad chitadrkvy pqadtvivhh wdimsnpksr
      121 lppsprpqgq rwiwfnlepp pncqhleald ryfnltmsyr sdsdiftpyg wlepwsgqpa
      181 hpplnlsakt elvawavsnw kpdsarvryy qslqahlkvd vygrshkplp kgtmmetlsr
      241 ykfylafens lhpdyitekl wrnaleawav pvvlgpsrsn yerflppdaf ihvddfqspk
      301 dlarylqeld kdharylsyf rwretlrprs fswaldfcka cwklqqesry qtvrsiaawf
      361 t
//
LOCUS       NP_932072               1377 aa            linear   PRI 29-DEC-2022
DEFINITION  zinc finger MYM-type protein 2 isoform 1 [Homo sapiens].
ACCESSION   NP_932072
VERSION     NP_932072.1
DBSOURCE    REFSEQ: accession NM_197968.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1377)
  AUTHORS   Zeng X, Zheng W, Sheng Y and Ma H.
  TITLE     UBE2B promotes ovarian cancer growth via promoting RAD18 mediated
            ZMYM2 monoubiquitination and stabilization
  JOURNAL   Bioengineered 13 (4), 8000-8012 (2022)
   PUBMED   35313791
  REMARK    GeneRIF: UBE2B promotes ovarian cancer growth via promoting RAD18
            mediated ZMYM2 monoubiquitination and stabilization.
REFERENCE   2  (residues 1 to 1377)
  AUTHORS   Ludtke TH, Kleppa MJ, Rivera-Reyes R, Qasrawi F, Connaughton DM,
            Shril S, Hildebrandt F and Kispert A.
  TITLE     Proteomic analysis identifies ZMYM2 as endogenous binding partner
            of TBX18 protein in 293 and A549 cells
  JOURNAL   Biochem J 479 (1), 91-109 (2022)
   PUBMED   34935912
  REMARK    GeneRIF: Proteomic analysis identifies ZMYM2 as endogenous binding
            partner of TBX18 protein in 293 and A549 cells.
REFERENCE   3  (residues 1 to 1377)
  AUTHORS   Lezmi E, Weissbein U, Golan-Lev T, Nissim-Rafinia M, Meshorer E and
            Benvenisty N.
  TITLE     The Chromatin Regulator ZMYM2 Restricts Human Pluripotent Stem Cell
            Growth and Is Essential for Teratoma Formation
  JOURNAL   Stem Cell Reports 15 (6), 1275-1286 (2020)
   PUBMED   32559458
  REMARK    GeneRIF: The Chromatin Regulator ZMYM2 Restricts Human Pluripotent
            Stem Cell Growth and Is Essential for Teratoma Formation.
REFERENCE   4  (residues 1 to 1377)
  AUTHORS   Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin
            AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino
            A, Klambt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I,
            Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford
            AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao
            J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl
            S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum
            MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM,
            Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick
            PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM,
            Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV,
            Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers
            MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA,
            van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF,
            Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM,
            Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B,
            Fisher SE, Bouchard M, Khokha MK, Shril S and Hildebrandt F.
  TITLE     Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic
            Urinary Tract Malformations
  JOURNAL   Am J Hum Genet 107 (4), 727-742 (2020)
   PUBMED   32891193
  REMARK    GeneRIF: Mutations of the Transcriptional Corepressor ZMYM2 Cause
            Syndromic Urinary Tract Malformations.
REFERENCE   5  (residues 1 to 1377)
  AUTHORS   Cibis H, Biyanee A, Dorner W, Mootz HD and Klempnauer KH.
  TITLE     Characterization of the zinc finger proteins ZMYM2 and ZMYM4 as
            novel B-MYB binding proteins
  JOURNAL   Sci Rep 10 (1), 8390 (2020)
   PUBMED   32439918
  REMARK    GeneRIF: Characterization of the zinc finger proteins ZMYM2 and
            ZMYM4 as novel B-MYB binding proteins.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1377)
  AUTHORS   Reiter A, Sohal J, Kulkarni S, Chase A, Macdonald DH, Aguiar RC,
            Goncalves C, Hernandez JM, Jennings BA, Goldman JM and Cross NC.
  TITLE     Consistent fusion of ZNF198 to the fibroblast growth factor
            receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome
  JOURNAL   Blood 92 (5), 1735-1742 (1998)
   PUBMED   9716603
REFERENCE   7  (residues 1 to 1377)
  AUTHORS   Still,I.H. and Cowell,J.K.
  TITLE     The t(8;13) atypical myeloproliferative disorder: further analysis
            of the ZNF198 gene and lack of evidence for multiple genes
            disrupted on chromosome 13
  JOURNAL   Blood 92 (4), 1456-1458 (1998)
   PUBMED   9694738
REFERENCE   8  (residues 1 to 1377)
  AUTHORS   Popovici C, Adelaide J, Ollendorff V, Chaffanet M, Guasch G, Jacrot
            M, Leroux D, Birnbaum D and Pebusque MJ.
  TITLE     Fibroblast growth factor receptor 1 is fused to FIM in stem-cell
            myeloproliferative disorder with t(8;13)
  JOURNAL   Proc Natl Acad Sci U S A 95 (10), 5712-5717 (1998)
   PUBMED   9576949
REFERENCE   9  (residues 1 to 1377)
  AUTHORS   Smedley D, Hamoudi R, Clark J, Warren W, Abdul-Rauf M, Somers G,
            Venter D, Fagan K, Cooper C and Shipley J.
  TITLE     The t(8;13)(p11;q11-12) rearrangement associated with an atypical
            myeloproliferative disorder fuses the fibroblast growth factor
            receptor 1 gene to a novel gene RAMP
  JOURNAL   Hum Mol Genet 7 (4), 637-642 (1998)
   PUBMED   9499416
REFERENCE   10 (residues 1 to 1377)
  AUTHORS   Xiao S, Nalabolu SR, Aster JC, Ma J, Abruzzo L, Jaffe ES, Stone R,
            Weissman SM, Hudson TJ and Fletcher JA.
  TITLE     FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the
            t(8;13) leukaemia/lymphoma syndrome
  JOURNAL   Nat Genet 18 (1), 84-87 (1998)
   PUBMED   9425908
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL137119.26 and AL138688.27.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a zinc finger protein
            that may act as a transcription factor. The encoded protein may be
            part of a BHC histone deacetylase complex. Translocation of this
            gene with the fibroblast growth factor receptor-1 gene (FGFR1)
            results in a fusion gene, which may be a cause of stem cell
            leukemia lymphoma syndrome (SCLL). Several transcript variants
            encoding the same protein have been found for this gene. [provided
            by RefSeq, Jul 2010].
            
            Sequence Note:.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC036372.1, SRR14038192.2599831.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000610343.5/ ENSP00000479904.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1377
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.11"
     Protein         1..1377
                     /product="zinc finger MYM-type protein 2 isoform 1"
                     /note="zinc finger protein 198; rearranged in an atypical
                     myeloproliferative disorder; fused in myeloproliferative
                     disorders protein; zinc finger, MYM-type 2"
                     /calculated_mol_wt=154781
     Region          85..177
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Site            159
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Region          273..305
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Site            305
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Region          327..363
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          368..409
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          420..456
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          462..502
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          531..570
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          634..671
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          722..758
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          764..799
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Site            838
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Site            913..914
                     /site_type="other"
                     /note="Breakpoint for translocation to form ZMYM2-FGFR1;
                     propagated from UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Site            958
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Region          983..1002
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Region          1028..1064
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Site            1064
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CU65; propagated from
                     UniProtKB/Swiss-Prot (Q9UBW7.1)"
     Region          1192..1360
                     /region_name="DUF3504"
                     /note="Domain of unknown function (DUF3504); pfam12012"
                     /db_xref="CDD:432262"
     Site            1376
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9UBW7.1)"
     CDS             1..1377
                     /gene="ZMYM2"
                     /gene_synonym="FIM; MYM; NECRC; RAMP; SCLL; ZNF198"
                     /coded_by="NM_197968.4:195..4328"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS45016.1"
                     /db_xref="GeneID:7750"
                     /db_xref="HGNC:HGNC:12989"
                     /db_xref="MIM:602221"
ORIGIN      
        1 mdtssvggle ltdqtpvllg stamatsltn vgnsfsgpan plvsrsnkfq nssveddddv
       61 vfiepvqppp psvpvvadqr titftsskne elqgndskit psskelasqk gsvsetivid
      121 deedmetnqg qeknssnfie rrppetknrt ndvdfstssf srskvnagmg nsgittepds
      181 eiqianvttl etgvssvndg qlentdgrdm nlmithvtsl qntnlgdvsn glqssnfgvn
      241 iqtytpslts qtktgvgpfn pgrmnvagdv fqngesathh npdswisqsa sfprnqkqpg
      301 vdslspvasl pkqifqpsvq qqptkpvkvt canckkplqk gqtayqrkgs ahlfcsttcl
      361 ssfshkpapk klcvmckkdi ttmkgtivaq vdssesfqef cstsclslye dkqnptkgal
      421 nksrcticgk lteirhevsf knmthklcsd hcfnryrman glimncceqc geylpskgag
      481 nnvlvidgqq krfccqscvs eykqvgshps flkevrdhmq dsflmqpeky gklttctgcr
      541 tqcrffdmtq cigpngymep ycstacmnsh ktkyaksqsl giichfckrn slpqyqatmp
      601 dgklynfcns scvakfqals mqsspngqfv apsdiqlkcn ycknsfcskp eilewenkvh
      661 qfcsktcsdd ykklhcivty ceycqeektl hetvnfsgvk rpfcsegckl lykqdfarrl
      721 glrcvtcnyc sqlckkgatk eldgvvrdfc sedcckkfqd wyykaarcdc cksqgtlker
      781 vqwrgemkhf cdqhcllrfy cqqnepnmtt qkgpenlhyd qgcqtsrtkm tgsapppspt
      841 pnkemknkav lckpltmtka tyckphmqtk scqtddtwrt eyvpvpipvp vyipvpmhmy
      901 sqnipvpttv pvpvpvpvfl papldsseki paaieelksk vssdaldtel ltmtdmmsed
      961 egktettnin sviietdiig sdllknsdpe tqssmpdvpy epdldieidf praaeeldme
     1021 nefllppvfg eeyeeqprpr skkkgakrka vsgyqshdds sdnsecsfpf kytygvnawk
     1081 hwvktrqlde dllvldelks sksvklkedl lshttaelny glahfvneir rpngenyapd
     1141 siyylclgiq eylcgsnrkd nifidpgyqt feqelnkilr swqpsilpdg sifsrveedy
     1201 lwrikqlgsh spvallntlf yfntkyfglk tveqhlrlsf gtvfrhwkkn pltmenkacl
     1261 ryqvsslcgt dnedkittgk rkheddepvf eqientanps rcpvkmfecy lskspqnlnq
     1321 rmdvfylqpe cssstdspvw ytstsldrnt lenmlvrvll vkdiydkdny eldedtd
//
LOCUS       NP_114105                440 aa            linear   PRI 29-DEC-2022
DEFINITION  Golgi reassembly-stacking protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_114105
VERSION     NP_114105.1
DBSOURCE    REFSEQ: accession NM_031899.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 440)
  AUTHORS   Ahat E, Song Y, Xia K, Reid W, Li J, Bui S, Zhang F, Linhardt RJ
            and Wang Y.
  TITLE     GRASP depletion-mediated Golgi fragmentation impairs
            glycosaminoglycan synthesis, sulfation, and secretion
  JOURNAL   Cell Mol Life Sci 79 (4), 199 (2022)
   PUBMED   35312866
  REMARK    GeneRIF: GRASP depletion-mediated Golgi fragmentation impairs
            glycosaminoglycan synthesis, sulfation, and secretion.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 440)
  AUTHORS   Zhang Y and Seemann J.
  TITLE     Rapid degradation of GRASP55 and GRASP65 reveals their immediate
            impact on the Golgi structure
  JOURNAL   J Cell Biol 220 (1) (2021)
   PUBMED   33301566
  REMARK    GeneRIF: Rapid degradation of GRASP55 and GRASP65 reveals their
            immediate impact on the Golgi structure.
REFERENCE   3  (residues 1 to 440)
  AUTHORS   Reddy ST, Uversky VN and Costa-Filho AJ.
  TITLE     Biophysical characterization of intrinsically disordered human
            Golgi matrix protein GRASP65
  JOURNAL   Int J Biol Macromol 162, 1982-1993 (2020)
   PUBMED   32822731
  REMARK    GeneRIF: Biophysical characterization of intrinsically disordered
            human Golgi matrix protein GRASP65.
REFERENCE   4  (residues 1 to 440)
  AUTHORS   Cheng PW, Davidson S and Bhat G.
  TITLE     Markers of malignant prostate cancer cells: Golgi localization of
            alpha-mannosidase 1A at GM130-GRASP65 site and appearance of high
            mannose N-glycans on cell surface
  JOURNAL   Biochem Biophys Res Commun 527 (2), 406-410 (2020)
   PUBMED   32331836
  REMARK    GeneRIF: Markers of malignant prostate cancer cells: Golgi
            localization of alpha-mannosidase 1A at GM130-GRASP65 site and
            appearance of high mannose N-glycans on cell surface.
REFERENCE   5  (residues 1 to 440)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 440)
  AUTHORS   Sutterlin C, Lin CY, Feng Y, Ferris DK, Erikson RL and Malhotra V.
  TITLE     Polo-like kinase is required for the fragmentation of
            pericentriolar Golgi stacks during mitosis
  JOURNAL   Proc Natl Acad Sci U S A 98 (16), 9128-9132 (2001)
   PUBMED   11447294
REFERENCE   7  (residues 1 to 440)
  AUTHORS   Moyer BD, Allan BB and Balch WE.
  TITLE     Rab1 interaction with a GM130 effector complex regulates COPII
            vesicle cis--Golgi tethering
  JOURNAL   Traffic 2 (4), 268-276 (2001)
   PUBMED   11285137
REFERENCE   8  (residues 1 to 440)
  AUTHORS   Lin CY, Madsen ML, Yarm FR, Jang YJ, Liu X and Erikson RL.
  TITLE     Peripheral Golgi protein GRASP65 is a target of mitotic polo-like
            kinase (Plk) and Cdc2
  JOURNAL   Proc Natl Acad Sci U S A 97 (23), 12589-12594 (2000)
   PUBMED   11050165
REFERENCE   9  (residues 1 to 440)
  AUTHORS   Barr FA, Nakamura N and Warren G.
  TITLE     Mapping the interaction between GRASP65 and GM130, components of a
            protein complex involved in the stacking of Golgi cisternae
  JOURNAL   EMBO J 17 (12), 3258-3268 (1998)
   PUBMED   9628863
  REMARK    GeneRIF: A study showing that GRASP65 binds directly to the
            coiled-coil vesicle tethering factor GM130, and targets it to Golgi
            membranes.
REFERENCE   10 (residues 1 to 440)
  AUTHORS   Barr FA, Puype M, Vandekerckhove J and Warren G.
  TITLE     GRASP65, a protein involved in the stacking of Golgi cisternae
  JOURNAL   Cell 91 (2), 253-262 (1997)
   PUBMED   9346242
  REMARK    GeneRIF: Identification of GRASP65, and demonstration that it
            functions in the formation of stacked Golgi cisternae.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK124755.1, AK057043.1,
            AK001574.1 and AI824080.1.
            
            Summary: The Golgi complex plays a key role in the sorting and
            modification of proteins exported from the endoplasmic reticulum.
            The protein encoded by this gene is a membrane protein involved in
            establishing the stacked structure of the Golgi apparatus. It is a
            caspase-3 substrate, and cleavage of this encoded protein
            contributes to Golgi fragmentation in apoptosis. This encoded
            protein can form a complex with the Golgi matrix protein GOLGA2,
            and this complex binds to the vesicle docking protein p115.
            Alternative splicing results in multiple transcript variants of
            this gene. [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK124755.1, AJ409349.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000319283.8/ ENSP00000313869.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..440
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     Protein         1..440
                     /product="Golgi reassembly-stacking protein 1 isoform 1"
                     /note="Golgi reassembly and stacking protein 1; Golgi
                     phosphoprotein 5; Golgi peripheral membrane protein p65;
                     golgi reassembly-stacking protein of 65 kDa; golgi
                     reassembly stacking protein 1, 65kDa; Golgi
                     reassembly-stacking protein 1"
                     /calculated_mol_wt=46351
     Site            order(2..5,7,56,59..60)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238080"
     Region          3..100
                     /region_name="PDZ"
                     /note="PDZ domain, also called DHR (Dlg homologous region)
                     or GLGF (after a conserved sequence motif). Many PDZ
                     domains bind C-terminal polypeptides, though binding to
                     internal (non-C-terminal) polypeptides and even to lipids
                     has been demonstrated; cl00117"
                     /db_xref="CDD:444702"
     Region          15..215
                     /region_name="GRASP.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01214"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQQ3.3)"
     Region          69..205
                     /region_name="GRASP55_65"
                     /note="GRASP55/65 PDZ-like domain; pfam04495"
                     /db_xref="CDD:427981"
     Region          190..202
                     /region_name="Essential for interaction with GOLGA2/GM130.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQQ3.3)"
     Region          <194..298
                     /region_name="PHA03264"
                     /note="envelope glycoprotein D; Provisional"
                     /db_xref="CDD:223029"
     Region          205..248
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQQ3.3)"
     Site            216
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19690332;
                     propagated from UniProtKB/Swiss-Prot (Q9BQQ3.3)"
     Region          261..301
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQQ3.3)"
     Region          327..440
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQQ3.3)"
     Site            362
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q91X51; propagated from
                     UniProtKB/Swiss-Prot (Q9BQQ3.3)"
     Site            364
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35254; propagated from
                     UniProtKB/Swiss-Prot (Q9BQQ3.3)"
     Site            373
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q91X51; propagated from
                     UniProtKB/Swiss-Prot (Q9BQQ3.3)"
     CDS             1..440
                     /gene="GORASP1"
                     /gene_synonym="GOLPH5; GRASP65; P65"
                     /coded_by="NM_031899.4:87..1409"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2681.1"
                     /db_xref="GeneID:64689"
                     /db_xref="HGNC:HGNC:16769"
                     /db_xref="MIM:606867"
ORIGIN      
        1 mglgvsaeqp aggaegfhlh gvqenspaqq aglepyfdfi itighsrlnk endtlkallk
       61 anvekpvkle vfnmktmrvr evevvpsnmw ggqgllgasv rfcsfrrase qvwhvldvep
      121 sspaalaglr pytdyvvgsd qilqesedff tlieshegkp lklmvynsks dscrevtvtp
      181 naawggegsl gcgigygylh riptqppsyh kkppgtppps alplgapppd alppgptped
      241 spsletgsrq sdymeallqa pgssmedplp gpgspshsap dpdglphfme tplqppppvq
      301 rvmdpgfldv sgislldnsn asvwpslpss teltttavst sgpedicsss ssherggeat
      361 wsgsefevsf ldspgaqaqa dhlpqltlpd sltsaasped glsaelleaq aeeepasteg
      421 ldtgteaegl dsqaqistte
//
LOCUS       NP_001374789             304 aa            linear   PRI 30-DEC-2022
DEFINITION  A-kinase anchoring protein 7 isoform 5 [Homo sapiens].
ACCESSION   NP_001374789
VERSION     NP_001374789.1
DBSOURCE    REFSEQ: accession NM_001387860.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 304)
  AUTHORS   O'Connell GC, Treadway MB, Petrone AB, Tennant CS, Lucke-Wold N,
            Chantler PD and Barr TL.
  TITLE     Peripheral blood AKAP7 expression as an early marker for
            lymphocyte-mediated post-stroke blood brain barrier disruption
  JOURNAL   Sci Rep 7 (1), 1172 (2017)
   PUBMED   28446746
  REMARK    GeneRIF: AKAP7 expression levels may have clinical utility as a
            prognostic biomarker for post-stroke blood brain complications
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 304)
  AUTHORS   Bjerregaard-Andersen K, Ostensen E, Scott JD, Tasken K and Morth
            JP.
  TITLE     Malonate in the nucleotide-binding site traps human
            AKAP18gamma/delta in a novel conformational state
  JOURNAL   Acta Crystallogr F Struct Biol Commun 72 (Pt 8), 591-597 (2016)
   PUBMED   27487922
  REMARK    GeneRIF: Malonate in the nucleotide-binding site traps human
            AKAP18-gamma in a novel conformational state.
REFERENCE   3  (residues 1 to 304)
  AUTHORS   Burgers PP, van der Heyden MA, Kok B, Heck AJ and Scholten A.
  TITLE     A systematic evaluation of protein kinase A-A-kinase anchoring
            protein interaction motifs
  JOURNAL   Biochemistry 54 (1), 11-21 (2015)
   PUBMED   25097019
REFERENCE   4  (residues 1 to 304)
  AUTHORS   Greenwald EC, Redden JM, Dodge-Kafka KL and Saucerman JJ.
  TITLE     Scaffold state switching amplifies, accelerates, and insulates
            protein kinase C signaling
  JOURNAL   J Biol Chem 289 (4), 2353-2360 (2014)
   PUBMED   24302730
  REMARK    GeneRIF: PKC tethered to AKAP7alpha was less susceptible to
            inhibition from the ATP-competitive inhibitor Go6976 and the
            substrate-competitive inhibitor PKC 20-28, but not the
            activation-competitive inhibitor calphostin C.
REFERENCE   5  (residues 1 to 304)
  AUTHORS   Weinhold N, Johnson DC, Chubb D, Chen B, Forsti A, Hosking FJ,
            Broderick P, Ma YP, Dobbins SE, Hose D, Walker BA, Davies FE,
            Kaiser MF, Li NL, Gregory WA, Jackson GH, Witzens-Harig M, Neben K,
            Hoffmann P, Nothen MM, Muhleisen TW, Eisele L, Ross FM, Jauch A,
            Goldschmidt H, Houlston RS, Morgan GJ and Hemminki K.
  TITLE     The CCND1 c.870G>A polymorphism is a risk factor for
            t(11;14)(q13;q32) multiple myeloma
  JOURNAL   Nat Genet 45 (5), 522-525 (2013)
   PUBMED   23502783
REFERENCE   6  (residues 1 to 304)
  AUTHORS   Brown RL, August SL, Williams CJ and Moss SB.
  TITLE     AKAP7gamma is a nuclear RI-binding AKAP
  JOURNAL   Biochem Biophys Res Commun 306 (2), 394-401 (2003)
   PUBMED   12804576
  REMARK    GeneRIF: AKAP7gamma is the first nuclear AKAP to bind RI and may be
            responsible for positioning PKA via RI and/or RII to regulate
            PKA-mediated gene transcription in both somatic cells and oocytes
REFERENCE   7  (residues 1 to 304)
  AUTHORS   Alto NM, Soderling SH, Hoshi N, Langeberg LK, Fayos R, Jennings PA
            and Scott JD.
  TITLE     Bioinformatic design of A-kinase anchoring protein-in silico: a
            potent and selective peptide antagonist of type II protein kinase A
            anchoring
  JOURNAL   Proc Natl Acad Sci U S A 100 (8), 4445-4450 (2003)
   PUBMED   12672969
REFERENCE   8  (residues 1 to 304)
  AUTHORS   Potet F, Scott JD, Mohammad-Panah R, Escande D and Baro I.
  TITLE     AKAP proteins anchor cAMP-dependent protein kinase to KvLQT1/IsK
            channel complex
  JOURNAL   Am J Physiol Heart Circ Physiol 280 (5), H2038-H2045 (2001)
   PUBMED   11299204
REFERENCE   9  (residues 1 to 304)
  AUTHORS   Trotter KW, Fraser ID, Scott GK, Stutts MJ, Scott JD and Milgram
            SL.
  TITLE     Alternative splicing regulates the subcellular localization of
            A-kinase anchoring protein 18 isoforms
  JOURNAL   J Cell Biol 147 (7), 1481-1492 (1999)
   PUBMED   10613906
REFERENCE   10 (residues 1 to 304)
  AUTHORS   Fraser ID, Tavalin SJ, Lester LB, Langeberg LK, Westphal AM, Dean
            RA, Marrion NV and Scott JD.
  TITLE     A novel lipid-anchored A-kinase Anchoring Protein facilitates
            cAMP-responsive membrane events
  JOURNAL   EMBO J 17 (8), 2261-2272 (1998)
   PUBMED   9545239
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL137222.17, AL136110.17 and
            AL137063.11.
            
            Summary: This gene encodes a member of the A-kinase anchoring
            protein (AKAP) family, a group of functionally related proteins
            that bind to a regulatory subunit (RII) of cAMP-dependent protein
            kinase A (PKA) and target the enzyme to specific subcellular
            compartments. AKAPs have a common RII-binding domain, but contain
            different targeting motifs responsible for directing PKA to
            distinct intracellular locations. Three alternatively spliced
            transcript variants encoding different isoforms have been
            described.[provided by RefSeq, Apr 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..304
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.2"
     Protein         1..304
                     /product="A-kinase anchoring protein 7 isoform 5"
                     /note="A-kinase anchor protein 9 kDa; AKAP 18; A-kinase
                     anchor protein 18 kDa; A kinase (PRKA) anchor protein 7"
                     /calculated_mol_wt=34535
     Region          41..239
                     /region_name="AKAP7_NLS"
                     /note="AKAP7 2'5' RNA ligase-like domain; pfam10469"
                     /db_xref="CDD:402204"
     Region          245..302
                     /region_name="AKAP7_RIRII_bdg"
                     /note="PKA-RI-RII subunit binding domain of A-kinase
                     anchor protein; pfam10470"
                     /db_xref="CDD:431300"
     CDS             1..304
                     /gene="AKAP7"
                     /gene_synonym="AKAP15; AKAP18"
                     /coded_by="NM_001387860.1:298..1212"
                     /note="isoform 5 is encoded by transcript variant 8"
                     /db_xref="GeneID:9465"
                     /db_xref="HGNC:HGNC:377"
                     /db_xref="MIM:604693"
ORIGIN      
        1 merpeavtde pqinlkrsqe newvksdqvk krkkkrkdyq pnyflsipit nkeiikgiki
       61 lqnaiiqqde rlakamvsdg sfhitllvmq llnedevnig idallelkpf ieellqgkhl
      121 tlpfqgigtf gnqvgfvkla egdhvnslle iaetanrtfq ekgilvgesr sfkphltfmk
      181 lskspwlrkn gvkkidpdly ekfishrfge eilyridlcs mlkkkqsngy yhcessivig
      241 eknggepdda elvrlskrlv enavlkavqq yleetqnknk pgegssvkte aadqngndne
      301 nnrk
//
LOCUS       NP_036306                532 aa            linear   PRI 30-DEC-2022
DEFINITION  F-box/WD repeat-containing protein 8 isoform 2 [Homo sapiens].
ACCESSION   NP_036306
VERSION     NP_036306.1
DBSOURCE    REFSEQ: accession NM_012174.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 532)
  AUTHORS   Islam S, Dutta P, Chopra K, Rapole S, Chauhan R and Santra MK.
  TITLE     FBXW8 regulates G1 and S phases of cell cycle progression by
            restricting beta-TrCP1 function
  JOURNAL   FEBS J 288 (18), 5474-5497 (2021)
   PUBMED   33742524
  REMARK    GeneRIF: FBXW8 regulates G1 and S phases of cell cycle progression
            by restricting beta-TrCP1 function.
REFERENCE   2  (residues 1 to 532)
  AUTHORS   Wang J, Bogdanova N, Schurmann P, Park-Simon TW, Geffers R and Dork
            T.
  TITLE     Assessment of a FBXW8 frameshift mutation, c.1312_1313delGT, in
            breast cancer patients and controls from Central Europe
  JOURNAL   Cancer Genet 220, 38-43 (2018)
   PUBMED   29310837
  REMARK    GeneRIF: Frameshift mutation FBXW8 c.1312_1313delGT was considered
            functionally relevant and was investigated for its potential
            association with breast cancer risk through subsequent genotyping
            in two hospital-based breast cancer case-control series from
            Belarus and Germany, respectively, comprising a total of 2740
            breast cancer cases and 2174 controls.
REFERENCE   3  (residues 1 to 532)
  AUTHORS   Hauri S, Comoglio F, Seimiya M, Gerstung M, Glatter T, Hansen K,
            Aebersold R, Paro R, Gstaiger M and Beisel C.
  TITLE     A High-Density Map for Navigating the Human Polycomb Complexome
  JOURNAL   Cell Rep 17 (2), 583-595 (2016)
   PUBMED   27705803
REFERENCE   4  (residues 1 to 532)
  AUTHORS   Halbach MV, Stehning T, Damrath E, Jendrach M, Sen NE, Basak AN and
            Auburger G.
  TITLE     Both ubiquitin ligases FBXW8 and PARK2 are sequestrated into
            insolubility by ATXN2 PolyQ expansions, but only FBXW8 expression
            is dysregulated
  JOURNAL   PLoS One 10 (3), e0121089 (2015)
   PUBMED   25790475
  REMARK    GeneRIF: FBXW8 and PARK2 are sequestrated into insolubility by
            ATXN2 PolyQ expansions, but only FBXW8 expression is dysregulated
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 532)
  AUTHORS   Shi D, Tan Z, Lu R, Yang W and Zhang Y.
  TITLE     MicroRNA-218 inhibits the proliferation of human choriocarcinoma
            JEG-3 cell line by targeting Fbxw8
  JOURNAL   Biochem Biophys Res Commun 450 (4), 1241-1246 (2014)
   PUBMED   24973709
  REMARK    GeneRIF: findings will shed light the role to mechanism of miR-218
            in regulating JEG-3 cells proliferation via miR-218/Fbxw8 axis, and
            miR-218 may serve as a novel potential therapeutic target in human
            choriocarcinoma in the future
REFERENCE   6  (residues 1 to 532)
  AUTHORS   Okabe H, Lee SH, Phuchareon J, Albertson DG, McCormick F and Tetsu
            O.
  TITLE     A critical role for FBXW8 and MAPK in cyclin D1 degradation and
            cancer cell proliferation
  JOURNAL   PLoS One 1 (1), e128 (2006)
   PUBMED   17205132
  REMARK    GeneRIF: FBXW8 plays an essential role in cancer cell proliferation
            through proteolysis of cyclin D1. It may present new opportunities
            to develop therapies targeting destruction of cyclin D1 or its
            regulator E3 ligase selectively.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 532)
  AUTHORS   Watanabe N, Arai H, Nishihara Y, Taniguchi M, Watanabe N, Hunter T
            and Osada H.
  TITLE     M-phase kinases induce phospho-dependent ubiquitination of somatic
            Wee1 by SCFbeta-TrCP
  JOURNAL   Proc Natl Acad Sci U S A 101 (13), 4419-4424 (2004)
   PUBMED   15070733
REFERENCE   8  (residues 1 to 532)
  AUTHORS   Dias DC, Dolios G, Wang R and Pan ZQ.
  TITLE     CUL7: A DOC domain-containing cullin selectively binds Skp1.Fbx29
            to form an SCF-like complex
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16601-16606 (2002)
   PUBMED   12481031
REFERENCE   9  (residues 1 to 532)
  AUTHORS   Winston JT, Koepp DM, Zhu C, Elledge SJ and Harper JW.
  TITLE     A family of mammalian F-box proteins
  JOURNAL   Curr Biol 9 (20), 1180-1182 (1999)
   PUBMED   10531037
REFERENCE   10 (residues 1 to 532)
  AUTHORS   Cenciarelli C, Chiaur DS, Guardavaccaro D, Parks W, Vidal M and
            Pagano M.
  TITLE     Identification of a family of human F-box proteins
  JOURNAL   Curr Biol 9 (20), 1177-1179 (1999)
   PUBMED   10531035
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC083806.16, AC127164.2 and
            AC026368.37.
            
            Summary: This gene encodes a member of the F-box protein family,
            members of which are characterized by an approximately 40 amino
            acid motif, the F-box. The F-box proteins constitute one of the
            four subunits of ubiquitin protein ligase complex called SCFs
            (SKP1-cullin-F-box), which function in phosphorylation-dependent
            ubiquitination. The F-box proteins are divided into three classes:
            Fbws containing WD-40 domains, Fbls containing leucine-rich
            repeats, and Fbxs containing either different protein-protein
            interaction modules or no recognizable motifs. The protein encoded
            by this gene contains a WD-40 domain, in addition to an F-box
            motif, so it belongs to the Fbw class. Alternatively spliced
            transcript variants encoding distinct isoforms have been identified
            for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an in-frame segment in
            the 5' coding region, as compared to variant 1. It encodes isoform
            2, which is missing an internal segment, as compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.2111510.1,
                                           SRR14038192.3166818.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..532
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.22"
     Protein         1..532
                     /product="F-box/WD repeat-containing protein 8 isoform 2"
                     /note="F-box and WD-40 domain protein 8; F-box only
                     protein 29; F-box/WD repeat-containing protein 8; F-box
                     and WD-40 domain-containing protein 8"
                     /calculated_mol_wt=60574
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8N3Y1.2)"
     Region          47..94
                     /region_name="F-box_FBXW8"
                     /note="F-box domain found in F-box/WD repeat-containing
                     protein 8 (FBXW8) and similar proteins; cd22134"
                     /db_xref="CDD:438906"
     Site            order(53,57,60..61,64..65,69,71..72,76..78,80)
                     /site_type="other"
                     /note="putative Skp1 binding site [polypeptide binding]"
                     /db_xref="CDD:438906"
     Region          73..110
                     /region_name="F-box motif"
     Region          125..504
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          147..187
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          194..231
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          370..406
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          412..447
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..532
                     /gene="FBXW8"
                     /gene_synonym="FBW6; FBW8; FBX29; FBXO29; FBXW6"
                     /coded_by="NM_012174.2:89..1687"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS44988.1"
                     /db_xref="GeneID:26259"
                     /db_xref="HGNC:HGNC:13597"
                     /db_xref="MIM:609073"
ORIGIN      
        1 mddysldefr rrwqeelaqa qapkkrrrpe aaerrarrpe nemndvpffd iqlpyelain
       61 ifqyldrkel grcaqvsktw kviaedevlw yrlcqqeghl pdssisdysc wklifqecra
      121 kehmlrtnwk nrkgavsele hvpdtvlcdv hshdgvviag ytsgdvrvwd trtwdyvapf
      181 lesedeedep gmqpnvsfvr insslavaay edgflniwdl rtgkypvhrf ehdariqala
      241 lsqddatvat asafdvvmls pneegywqia aefevpklvq yleivpetrr ypvavaaagd
      301 lmyllkaeds artllyahgp pvtcldvsan qvafgvqglg wvyegskilv ysleagrrll
      361 klgnvlrdft cvnlsdsppn lmvsgnmdgr vrihdlrsgn ialslsahql rvsavqmddw
      421 kivsggeegl vsvwdyrmnq klwevysghp vqhisfsshs litanvpyqt vmrnadldsf
      481 tthrrhrgli rayefavdql afqsplpvcr sscdamathy ydlalafpyn hv
//
LOCUS       NP_001336998             585 aa            linear   PRI 30-DEC-2022
DEFINITION  REST corepressor 3 isoform e [Homo sapiens].
ACCESSION   NP_001336998 XP_016857248
VERSION     NP_001336998.1
DBSOURCE    REFSEQ: accession NM_001350069.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 585)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 585)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   3  (residues 1 to 585)
  AUTHORS   Xue JH, Zheng M, Xu XW, Wu SS, Chen Z and Chen F.
  TITLE     Involvement of REST corepressor 3 in prognosis of human hepatitis B
  JOURNAL   Acta Pharmacol Sin 32 (8), 1019-1024 (2011)
   PUBMED   21765449
  REMARK    GeneRIF: The serum RCOR3 levels in SHB, cirrhosis and liver cancer
            patients were significantly lower than those in the patients with
            moderate chronic hepatitis B and with mild chronic hepatitis B.
REFERENCE   4  (residues 1 to 585)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   5  (residues 1 to 585)
  AUTHORS   Hosgood HD 3rd, Zhang L, Shen M, Berndt SI, Vermeulen R, Li G, Yin
            S, Yeager M, Yuenger J, Rothman N, Chanock S, Smith M and Lan Q.
  TITLE     Association between genetic variants in VEGF, ERCC3 and
            occupational benzene haematotoxicity
  JOURNAL   Occup Environ Med 66 (12), 848-853 (2009)
   PUBMED   19773279
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 585)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (residues 1 to 585)
  AUTHORS   Venkatesan K, Rual JF, Vazquez A, Stelzl U, Lemmens I,
            Hirozane-Kishikawa T, Hao T, Zenkner M, Xin X, Goh KI, Yildirim MA,
            Simonis N, Heinzmann K, Gebreab F, Sahalie JM, Cevik S, Simon C, de
            Smet AS, Dann E, Smolyar A, Vinayagam A, Yu H, Szeto D, Borick H,
            Dricot A, Klitgord N, Murray RR, Lin C, Lalowski M, Timm J, Rau K,
            Boone C, Braun P, Cusick ME, Roth FP, Hill DE, Tavernier J, Wanker
            EE, Barabasi AL and Vidal M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY024910.1, DA925839.1, AK302664.1, AL590101.9 and BU689437.1.
            On Apr 3, 2017 this sequence version replaced XP_016857248.1.
            
            Transcript Variant: This variant (5) contains an alternate in-frame
            exon in the 5' coding region compared to variant 1. The resulting
            isoform (e) has the same N- and C-termini, but is longer than
            isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.33727.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..585
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.2-q32.3"
     Protein         1..585
                     /product="REST corepressor 3 isoform e"
                     /calculated_mol_wt=64366
     Region          59..142
                     /region_name="ELM2"
                     /note="ELM2 domain; pfam01448"
                     /db_xref="CDD:426267"
     Region          178..222
                     /region_name="SANT"
                     /note="'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains.
                     Tandem copies of the domain bind telomeric DNA tandem
                     repeatsas part of the capping complex. Binding is sequence
                     dependent for repeats which contain the G/C rich motif
                     [C2-3 A (CA)1-6]. The domain is...; cl21498"
                     /db_xref="CDD:451276"
     Site            order(179,208..209,211..212,214..216,218..220)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:212559"
     Region          379..422
                     /region_name="Myb_DNA-binding"
                     /note="Myb-like DNA-binding domain; pfam00249"
                     /db_xref="CDD:425555"
     Site            order(380,409..410,412..413,415..417,419..421)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238096"
     CDS             1..585
                     /gene="RCOR3"
                     /coded_by="NM_001350069.2:196..1953"
                     /note="isoform e is encoded by transcript variant 5"
                     /db_xref="GeneID:55758"
                     /db_xref="HGNC:HGNC:25594"
ORIGIN      
        1 mpgmmekgpe llgknrsang sakspagggg sgasstnggl hysepesgcs sddehdvgmr
       61 vgaeyqarip efdpvetrsc yvsqaglklr gsshppslas qsagiigatk ytdkdnggml
      121 vwspyhsipd akldeyiaia kekhgynveq algmlfwhkh nieksladlp nftpfpdewt
      181 vedkvlfeqa fsfhgksfhr iqqmlpdkti aslvkyyysw kktrsrtslm drqarklanr
      241 hnqgdsdddv eethpmdgnd sdydpkkeak kegnteqpvq tskiglgrre yqslqhrhhs
      301 qrskcrppkg myltqedvva vscspnaant ilrqldmeli slkrqvqnak qvnsalkqkm
      361 eggieefkpp esnqkinarw tteeqllavq gvrkygkdfq aiadvignkt vgqvknffvn
      421 yrrrfnleev lqeweaeqgt qasngdastl geetksasnv psgkstdeee eaqtpqaprt
      481 lgpsppapss tptptapiat lnqpppllrp tlpaapalhr qppplqqqar fiqprptlnq
      541 pppplirpan smpprlnprp vlstvggqqp psligiqtds qsslh
//
LOCUS       NP_001317316             214 aa            linear   PRI 30-DEC-2022
DEFINITION  EKC/KEOPS complex subunit TPRKB isoform a [Homo sapiens].
ACCESSION   NP_001317316 XP_006712089
VERSION     NP_001317316.1
DBSOURCE    REFSEQ: accession NM_001330387.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 214)
  AUTHORS   Li J, Ma X, Banerjee S, Chen H, Ma W, Bode AM and Dong Z.
  TITLE     Crystal structure of the human PRPK-TPRKB complex
  JOURNAL   Commun Biol 4 (1), 167 (2021)
   PUBMED   33547416
  REMARK    GeneRIF: Crystal structure of the human PRPK-TPRKB complex.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 214)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   3  (residues 1 to 214)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 214)
  AUTHORS   Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W,
            Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson
            JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N,
            Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC,
            Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult
            S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY,
            Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T,
            Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A,
            Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM,
            Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre
            E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F,
            Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE,
            Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH,
            Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N,
            Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G,
            Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P,
            Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M,
            Antignac C and Hildebrandt F.
  TITLE     Mutations in KEOPS-complex genes cause nephrotic syndrome with
            primary microcephaly
  JOURNAL   Nat Genet 49 (10), 1529-1538 (2017)
   PUBMED   28805828
REFERENCE   5  (residues 1 to 214)
  AUTHORS   Wan LC, Maisonneuve P, Szilard RK, Lambert JP, Ng TF, Manczyk N,
            Huang H, Laister R, Caudy AA, Gingras AC, Durocher D and Sicheri F.
  TITLE     Proteomic analysis of the human KEOPS complex identifies C14ORF142
            as a core subunit homologous to yeast Gon7
  JOURNAL   Nucleic Acids Res 45 (2), 805-817 (2017)
   PUBMED   27903914
REFERENCE   6  (residues 1 to 214)
  AUTHORS   Chambers JC, Zhang W, Lord GM, van der Harst P, Lawlor DA, Sehmi
            JS, Gale DP, Wass MN, Ahmadi KR, Bakker SJ, Beckmann J, Bilo HJ,
            Bochud M, Brown MJ, Caulfield MJ, Connell JM, Cook HT, Cotlarciuc
            I, Davey Smith G, de Silva R, Deng G, Devuyst O, Dikkeschei LD,
            Dimkovic N, Dockrell M, Dominiczak A, Ebrahim S, Eggermann T,
            Farrall M, Ferrucci L, Floege J, Forouhi NG, Gansevoort RT, Han X,
            Hedblad B, Homan van der Heide JJ, Hepkema BG, Hernandez-Fuentes M,
            Hypponen E, Johnson T, de Jong PE, Kleefstra N, Lagou V, Lapsley M,
            Li Y, Loos RJ, Luan J, Luttropp K, Marechal C, Melander O, Munroe
            PB, Nordfors L, Parsa A, Peltonen L, Penninx BW, Perucha E, Pouta
            A, Prokopenko I, Roderick PJ, Ruokonen A, Samani NJ, Sanna S,
            Schalling M, Schlessinger D, Schlieper G, Seelen MA, Shuldiner AR,
            Sjogren M, Smit JH, Snieder H, Soranzo N, Spector TD, Stenvinkel P,
            Sternberg MJ, Swaminathan R, Tanaka T, Ubink-Veltmaat LJ, Uda M,
            Vollenweider P, Wallace C, Waterworth D, Zerres K, Waeber G,
            Wareham NJ, Maxwell PH, McCarthy MI, Jarvelin MR, Mooser V,
            Abecasis GR, Lightstone L, Scott J, Navis G, Elliott P and Kooner
            JS.
  TITLE     Genetic loci influencing kidney function and chronic kidney disease
  JOURNAL   Nat Genet 42 (5), 373-375 (2010)
   PUBMED   20383145
REFERENCE   7  (residues 1 to 214)
  AUTHORS   Miyoshi A, Kito K, Aramoto T, Abe Y, Kobayashi N and Ueda N.
  TITLE     Identification of CGI-121, a novel PRPK (p53-related protein
            kinase)-binding protein
  JOURNAL   Biochem Biophys Res Commun 303 (2), 399-405 (2003)
   PUBMED   12659830
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092653.3.
            On Aug 29, 2016 this sequence version replaced XP_006712089.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2183926.1,
                                           SRR7346977.177678.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA2142853 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..214
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     Protein         1..214
                     /product="EKC/KEOPS complex subunit TPRKB isoform a"
                     /note="PRPK (p53-related protein kinase)-binding protein;
                     EKC/KEOPS complex subunit TPRKB"
                     /calculated_mol_wt=23723
     Region          20..211
                     /region_name="CGI-121"
                     /note="Kinase binding protein CGI-121; pfam08617"
                     /db_xref="CDD:430107"
     CDS             1..214
                     /gene="TPRKB"
                     /gene_synonym="CGI-121; CGI121; GAMOS5"
                     /coded_by="NM_001330387.2:64..708"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS82471.1"
                     /db_xref="GeneID:51002"
                     /db_xref="HGNC:HGNC:24259"
                     /db_xref="MIM:608680"
ORIGIN      
        1 mqlthqldlf pecrvtlllf kdvknagdlr rkamegtidg slinptvfhs ccpgwsamar
       61 swltatsasr vqaivlpqpp ellglqivdp fqilvaanka vhlyklgkmk trtlsteiif
      121 nlspnnnise alkkfgisan dtsilivyie egekqinqey lisqveghqv slknlpeimn
      181 itevkkiykl ssqeesigtl ldaiicrmst kdvl
//
LOCUS       NP_001352762             365 aa            linear   PRI 30-DEC-2022
DEFINITION  synaptotagmin-like protein 2 isoform f [Homo sapiens].
ACCESSION   NP_001352762 XP_011543416
VERSION     NP_001352762.1
DBSOURCE    REFSEQ: accession NM_001365833.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 365)
  AUTHORS   Francis CR, Claflin S and Kushner EJ.
  TITLE     Synaptotagmin-Like Protein 2a Regulates Angiogenic Lumen Formation
            via Weibel-Palade Body Apical Secretion of Angiopoietin-2
  JOURNAL   Arterioscler Thromb Vasc Biol 41 (6), 1972-1986 (2021)
   PUBMED   33853352
  REMARK    GeneRIF: Synaptotagmin-Like Protein 2a Regulates Angiogenic Lumen
            Formation via Weibel-Palade Body Apical Secretion of
            Angiopoietin-2.
REFERENCE   2  (residues 1 to 365)
  AUTHORS   Sung HY, Han J, Ju W and Ahn JH.
  TITLE     Synaptotagmin-like protein 2 gene promotes the metastatic potential
            in ovarian cancer
  JOURNAL   Oncol Rep 36 (1), 535-541 (2016)
   PUBMED   27220283
  REMARK    GeneRIF: Overexpression of SYTL2 promoted metastatic potential.
REFERENCE   3  (residues 1 to 365)
  AUTHORS   Yasuda T and Fukuda M.
  TITLE     Slp2-a controls renal epithelial cell size through regulation of
            Rap-ezrin signaling independently of Rab27
  JOURNAL   J Cell Sci 127 (Pt 3), 557-570 (2014)
   PUBMED   24284068
REFERENCE   4  (residues 1 to 365)
  AUTHORS   Galvez-Santisteban M, Rodriguez-Fraticelli AE, Bryant DM,
            Vergarajauregui S, Yasuda T, Banon-Rodriguez I, Bernascone I, Datta
            A, Spivak N, Young K, Slim CL, Brakeman PR, Fukuda M, Mostov KE and
            Martin-Belmonte F.
  TITLE     Synaptotagmin-like proteins control the formation of a single
            apical membrane domain in epithelial cells
  JOURNAL   Nat Cell Biol 14 (8), 838-849 (2012)
   PUBMED   22820376
REFERENCE   5  (residues 1 to 365)
  AUTHORS   Ho JR, Chapeaublanc E, Kirkwood L, Nicolle R, Benhamou S, Lebret T,
            Allory Y, Southgate J, Radvanyi F and Goud B.
  TITLE     Deregulation of Rab and Rab effector genes in bladder cancer
  JOURNAL   PLoS One 7 (6), e39469 (2012)
   PUBMED   22724020
REFERENCE   6  (residues 1 to 365)
  AUTHORS   Menasche G, Menager MM, Lefebvre JM, Deutsch E, Athman R, Lambert
            N, Mahlaoui N, Court M, Garin J, Fischer A and de Saint Basile G.
  TITLE     A newly identified isoform of Slp2a associates with Rab27a in
            cytotoxic T cells and participates to cytotoxic granule secretion
  JOURNAL   Blood 112 (13), 5052-5062 (2008)
   PUBMED   18812475
  REMARK    GeneRIF: Rab27a recruits Slp2a-hem on vesicular structures in
            peripheral CTLs and following CTL-target cell conjugate formation,
            the Slp2a-hem/Rab27a complex colocalizes with perforin-containing
            granules at the immunologic synapse
REFERENCE   7  (residues 1 to 365)
  AUTHORS   Fukuda M, Saegusa C and Mikoshiba K.
  TITLE     Novel splicing isoforms of synaptotagmin-like proteins 2 and 3:
            identification of the Slp homology domain
  JOURNAL   Biochem Biophys Res Commun 283 (2), 513-519 (2001)
   PUBMED   11327731
REFERENCE   8  (residues 1 to 365)
  AUTHORS   Fukuda M and Mikoshiba K.
  TITLE     Synaptotagmin-like protein 1-3: a novel family of C-terminal-type
            tandem C2 proteins
  JOURNAL   Biochem Biophys Res Commun 281 (5), 1226-1233 (2001)
   PUBMED   11243866
REFERENCE   9  (residues 1 to 365)
  AUTHORS   Duncan RR, Shipston MJ and Chow RH.
  TITLE     Double C2 protein. A review
  JOURNAL   Biochimie 82 (5), 421-426 (2000)
   PUBMED   10865129
  REMARK    Review article
REFERENCE   10 (residues 1 to 365)
  AUTHORS   Nalefski EA and Falke JJ.
  TITLE     The C2 domain calcium-binding motif: structural and functional
            diversity
  JOURNAL   Protein Sci 5 (12), 2375-2390 (1996)
   PUBMED   8976547
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000642.5.
            On Sep 13, 2018 this sequence version replaced XP_011543416.1.
            
            Summary: The protein encoded by this gene is a synaptotagmin-like
            protein (SLP) that belongs to a C2 domain-containing protein
            family. The SLP homology domain (SHD) of this protein has been
            shown to specifically bind the GTP-bound form of Ras-related
            protein Rab-27A (RAB27A). This protein plays a role in
            RAB27A-dependent vesicle trafficking and controls melanosome
            distribution in the cell periphery. Alternative splicing results in
            multiple transcript variants encoding distinct isoforms.[provided
            by RefSeq, Jun 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1256985.1,
                                           SRR1803612.199409.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..365
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1"
     Protein         1..365
                     /product="synaptotagmin-like protein 2 isoform f"
                     /note="chromosome 11 synaptotagmin; breast
                     cancer-associated antigen SGA-72M; exophilin-4;
                     synaptotagmin-like protein 2; protein phosphatase 1,
                     regulatory subunit 151"
                     /calculated_mol_wt=41403
     Region          60..187
                     /region_name="C2"
                     /note="C2 domain; cl14603"
                     /db_xref="CDD:449331"
     Region          200..356
                     /region_name="C2B_SLP_1-2-3-4"
                     /note="C2 domain second repeat present in
                     Synaptotagmin-like proteins 1-4; cd04020"
                     /db_xref="CDD:175987"
     CDS             1..365
                     /gene="SYTL2"
                     /gene_synonym="CHR11SYT; EXO4; PPP1R151; SGA72M; SLP2;
                     SLP2A"
                     /coded_by="NM_001365833.2:157..1254"
                     /note="isoform f is encoded by transcript variant t"
                     /db_xref="CCDS:CCDS41698.1"
                     /db_xref="GeneID:54843"
                     /db_xref="HGNC:HGNC:15585"
                     /db_xref="MIM:612880"
ORIGIN      
        1 msddretdta sessyqlsrh kkspssltnl ssssgmtsls svsgsvmsvy sgdfgnlevk
       61 gniqfaieyv eslkelhvfv aqckdlaaad vkkqrsdpyv kayllpdkgk mgkkktlvvk
      121 ktlnpvynei lrykiekqil ktqklnlsiw hrdtfkrnsf lgeveldlet wdwdnkqnkq
      181 lrwyplkrkt apvaleaenr gemklalqyv pepvpgkklp ttgevhiwvk ecldlpllrg
      241 shlnsfvkct ilpdtsrksr qktravgktt npifnhtmvy dgfrpedlme acveltvwdh
      301 ykltnqflgg lrigfgtgks ygtevdwmds tseevalwek mvnspntwie atlplrmlli
      361 akisk
//
LOCUS       NP_001264660             634 aa            linear   PRI 30-DEC-2022
DEFINITION  membrane primary amine oxidase isoform 2 [Homo sapiens].
ACCESSION   NP_001264660
VERSION     NP_001264660.1
DBSOURCE    REFSEQ: accession NM_001277731.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 634)
  AUTHORS   Xu Q, Chen X, Yu T, Tang Q, Zhou Z, Wang H, Huang W, Huang T and
            Liang F.
  TITLE     Downregulation of VAP-1 in OSCC suppresses tumor growth and
            metastasis via NF-kappaB/IL-8 signaling and reduces neutrophil
            infiltration
  JOURNAL   J Oral Pathol Med 51 (4), 332-341 (2022)
   PUBMED   35174543
  REMARK    GeneRIF: Downregulation of VAP-1 in OSCC suppresses tumor growth
            and metastasis via NF-kappaB/IL-8 signaling and reduces neutrophil
            infiltration.
REFERENCE   2  (residues 1 to 634)
  AUTHORS   Unzeta M, Hernandez-Guillamon M, Sun P and Sole M.
  TITLE     SSAO/VAP-1 in Cerebrovascular Disorders: A Potential Therapeutic
            Target for Stroke and Alzheimer's Disease
  JOURNAL   Int J Mol Sci 22 (7), 3365 (2021)
   PUBMED   33805974
  REMARK    GeneRIF: SSAO/VAP-1 in Cerebrovascular Disorders: A Potential
            Therapeutic Target for Stroke and Alzheimer's Disease.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 634)
  AUTHORS   Rippe C, Moren B, Liu L, Stenkula KG, Mustaniemi J, Wennstrom M and
            Sward K.
  TITLE     NG2/CSPG4, CD146/MCAM and VAP1/AOC3 are regulated by
            myocardin-related transcription factors in smooth muscle cells
  JOURNAL   Sci Rep 11 (1), 5955 (2021)
   PUBMED   33727640
  REMARK    GeneRIF: NG2/CSPG4, CD146/MCAM and VAP1/AOC3 are regulated by
            myocardin-related transcription factors in smooth muscle cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 634)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 634)
  AUTHORS   Mercier N, Pawelzik SC, Pirault J, Carracedo M, Persson O,
            Wollensack B, Franco-Cereceda A and Back M.
  TITLE     Semicarbazide-Sensitive Amine Oxidase Increases in Calcific Aortic
            Valve Stenosis and Contributes to Valvular Interstitial Cell
            Calcification
  JOURNAL   Oxid Med Cell Longev 2020, 5197376 (2020)
   PUBMED   32411328
  REMARK    GeneRIF: Semicarbazide-Sensitive Amine Oxidase Increases in
            Calcific Aortic Valve Stenosis and Contributes to Valvular
            Interstitial Cell Calcification.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 634)
  AUTHORS   Kaitaniemi S, Gron K, Elovaara H, Salmi M, Jalkanen S and Elima K.
  TITLE     Functional modulation of vascular adhesion protein-1 by a novel
            splice variant
  JOURNAL   PLoS One 8 (1), e54151 (2013)
   PUBMED   23349812
  REMARK    GeneRIF: Data suggest that the down-regulation of both the
            expression and enzymatic activity of VAP-1 may result from a
            dominant-negative effect caused by heterodimerization between VAP-1
            and alternatively spliced VAP-1Delta3.
REFERENCE   7  (residues 1 to 634)
  AUTHORS   Lalor PF, Edwards S, McNab G, Salmi M, Jalkanen S and Adams DH.
  TITLE     Vascular adhesion protein-1 mediates adhesion and transmigration of
            lymphocytes on human hepatic endothelial cells
  JOURNAL   J Immunol 169 (2), 983-992 (2002)
   PUBMED   12097405
  REMARK    GeneRIF: VAP-1 is expressed on hepatic sinusoidal endothelial cells
            in vitro and supports adhesion and transmigration of lymphocytes
            across these cells under physiological shear stress.
REFERENCE   8  (residues 1 to 634)
  AUTHORS   Smith DJ, Salmi M, Bono P, Hellman J, Leu T and Jalkanen S.
  TITLE     Cloning of vascular adhesion protein 1 reveals a novel
            multifunctional adhesion molecule
  JOURNAL   J Exp Med 188 (1), 17-27 (1998)
   PUBMED   9653080
REFERENCE   9  (residues 1 to 634)
  AUTHORS   Zhang X and McIntire WS.
  TITLE     Cloning and sequencing of a copper-containing, topa
            quinone-containing monoamine oxidase from human placenta
  JOURNAL   Gene 179 (2), 279-286 (1996)
   PUBMED   8972912
REFERENCE   10 (residues 1 to 634)
  AUTHORS   Bustelo XR and Barbacid M.
  TITLE     Tyrosine phosphorylation of the vav proto-oncogene product in
            activated B cells
  JOURNAL   Science 256 (5060), 1196-1199 (1992)
   PUBMED   1375396
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U39447.1, JX020506.1 and
            AF054985.1.
            
            Summary: This gene encodes a member of the semicarbazide-sensitive
            amine oxidase family. Copper amine oxidases catalyze the oxidative
            conversion of amines to aldehydes in the presence of copper and
            quinone cofactor. The encoded protein is localized to the cell
            surface, has adhesive properties as well as monoamine oxidase
            activity, and may be involved in leukocyte trafficking. Alterations
            in levels of the encoded protein may be associated with many
            diseases, including diabetes mellitus. A pseudogene of this gene
            has been described and is located approximately 9-kb downstream on
            the same chromosome. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Apr 2013].
            
            Transcript Variant: This variant (2) lacks an exon in the coding
            region, which results in a frameshift, compared to variant 1. The
            encoded isoform (2, also known as VAP-1delta3) has a shorter and
            distinct C-terminus, compared to isoform 1. This isoform may act as
            a dominant negative regulator of isoform 1 (PMID: 23349812).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: JX020506.1, SRR14038196.720989.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..634
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..634
                     /product="membrane primary amine oxidase isoform 2"
                     /EC_number="1.4.3.21"
                     /note="semicarbazide-sensitive amine oxidase; copper amine
                     oxidase; membrane primary amine oxidase; placenta copper
                     monamine oxidase; amine oxidase, copper containing 3
                     (vascular adhesion protein 1)"
                     /calculated_mol_wt=70544
     Site            6..26
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16853.3)"
     Region          66..152
                     /region_name="Cu_amine_oxidN2"
                     /note="Copper amine oxidase, N2 domain; pfam02727"
                     /db_xref="CDD:397027"
     Site            137
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16046623,
                     ECO:0000269|PubMed:19159218, ECO:0007744|PDB:1PU4,
                     ECO:0007744|PDB:1US1, ECO:0007744|PDB:2C10,
                     ECO:0007744|PDB:2C11, ECO:0007744|PDB:2Y73,
                     ECO:0007744|PDB:2Y74, ECO:0007744|PDB:3ALA,
                     ECO:0007744|PDB:4BTW, ECO:0007744|PDB:4BTX,
                     ECO:0007744|PDB:4BTY; propagated from UniProtKB/Swiss-Prot
                     (Q16853.3)"
     Region          169..269
                     /region_name="Cu_amine_oxidN3"
                     /note="Copper amine oxidase, N3 domain; pfam02728"
                     /db_xref="CDD:426941"
     Site            212
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000305|PubMed:16046623; propagated from
                     UniProtKB/Swiss-Prot (Q16853.3)"
     Site            232
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16046623,
                     ECO:0007744|PDB:1PU4, ECO:0007744|PDB:1US1,
                     ECO:0007744|PDB:2C10, ECO:0007744|PDB:2C11,
                     ECO:0007744|PDB:2Y73, ECO:0007744|PDB:2Y74,
                     ECO:0007744|PDB:3ALA, ECO:0007744|PDB:4BTW,
                     ECO:0007744|PDB:4BTX, ECO:0007744|PDB:4BTY; propagated
                     from UniProtKB/Swiss-Prot (Q16853.3)"
     Site            294
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16046623,
                     ECO:0000269|PubMed:19159218, ECO:0007744|PDB:2C10,
                     ECO:0007744|PDB:2C11, ECO:0007744|PDB:4BTY; propagated
                     from UniProtKB/Swiss-Prot (Q16853.3)"
     Region          318..>627
                     /region_name="Cu_amine_oxid"
                     /note="Copper amine oxidase, enzyme domain; pfam01179"
                     /db_xref="CDD:426102"
     Site            592
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16046623,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218, ECO:0007744|PDB:2C10,
                     ECO:0007744|PDB:2C11, ECO:0007744|PDB:2Y73,
                     ECO:0007744|PDB:2Y74, ECO:0007744|PDB:3ALA,
                     ECO:0007744|PDB:4BTW, ECO:0007744|PDB:4BTX,
                     ECO:0007744|PDB:4BTY; propagated from UniProtKB/Swiss-Prot
                     (Q16853.3)"
     Site            618
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16046623,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218,
                     ECO:0007744|PDB:4BTW, ECO:0007744|PDB:4BTX; propagated
                     from UniProtKB/Swiss-Prot (Q16853.3)"
     CDS             1..634
                     /gene="AOC3"
                     /gene_synonym="HPAO; SSAO; VAP-1; VAP1"
                     /coded_by="NM_001277731.2:146..2050"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS74071.1"
                     /db_xref="GeneID:8639"
                     /db_xref="HGNC:HGNC:550"
                     /db_xref="MIM:603735"
ORIGIN      
        1 mnqktilvll ilavitifal vcvllvgrgg dggepsqlph cpsvspsaqp wthpgqsqlf
       61 adlsreelta vmrfltqrlg pglvdaaqar psdncvfsve lqlppkaaal ahldrgsppp
      121 arealaivff grqpqpnvse lvvgplphps ymrdvtverh ggplpyhrrp vlfqeyldid
      181 qmifnrelpq asgllhhccf ykhrgrnlvt mttaprglqs gdratwfgly ynisgagffl
      241 hhvglellvn hkaldparwt iqkvfyqgry ydslaqleaq feaglvnvvl ipdngtggsw
      301 slkspvppgp applqfypqg prfsvqgsrv asslwtfsfg lgafsgprif dvrfqgerlv
      361 yeislqeala iyggnspaam ttryvdggfg mgkyttpltr gvdcpylaty vdwhfllesq
      421 apktirdafc vfeqnqglpl rrhhsdlysh yfgglaetvl vvrsmstlln ydyvwdtvfh
      481 psgaieirfy atgyissafl fgatgkygnq vsehtlgtvh thsahfkvdl dvaglenwvw
      541 aedmvfvpma vpwspehqlq rlqvtrklle meeqaaflvg satprylyla snhsnkwghp
      601 rgyriqmlsf ageplpqnss margfsweri wwpg
//
LOCUS       NP_001093257             275 aa            linear   PRI 30-DEC-2022
DEFINITION  intercellular adhesion molecule 2 precursor [Homo sapiens].
ACCESSION   NP_001093257
VERSION     NP_001093257.1
DBSOURCE    REFSEQ: accession NM_001099787.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 275)
  AUTHORS   Chong DLW, Rebeyrol C, Jose RJ, Williams AE, Brown JS, Scotton CJ
            and Porter JC.
  TITLE     ICAM-1 and ICAM-2 Are Differentially Expressed and Up-Regulated on
            Inflamed Pulmonary Epithelium, but Neither ICAM-2 nor LFA-1: ICAM-1
            Are Required for Neutrophil Migration Into the Airways In Vivo
  JOURNAL   Front Immunol 12, 691957 (2021)
   PUBMED   34484188
  REMARK    GeneRIF: ICAM-1 and ICAM-2 Are Differentially Expressed and
            Up-Regulated on Inflamed Pulmonary Epithelium, but Neither ICAM-2
            nor LFA-1: ICAM-1 Are Required for Neutrophil Migration Into the
            Airways In Vivo.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 275)
  AUTHORS   Jin X, Bu Q, Zou Y, Feng Y and Wei M.
  TITLE     Lewis-antigen-containing ICAM-2/3 on Jurkat leukemia cells interact
            with DC-SIGN to regulate DC functions
  JOURNAL   Glycoconj J 35 (3), 287-297 (2018)
   PUBMED   29671117
  REMARK    GeneRIF: Lewis-antigen-containing ICAM-2/3 on Jurkat leukemia cells
            interact with DC-SIGN to regulate DC functions.
REFERENCE   3  (residues 1 to 275)
  AUTHORS   Zuo Y, Cui Y, Di Poto C, Varghese RS, Yu G, Li R and Ressom HW.
  TITLE     INDEED: Integrated differential expression and differential network
            analysis of omic data for biomarker discovery
  JOURNAL   Methods 111, 12-20 (2016)
   PUBMED   27592383
  REMARK    GeneRIF: INDEED also identified some candidates previously reported
            to be relevant to HCC, such as intercellular adhesion molecule 2
            (ICAM2) and c4b-binding protein alpha chain (C4BPA), which were
            missed by both Differential expression and differential network
            analyses
REFERENCE   4  (residues 1 to 275)
  AUTHORS   Sasaki Y, Tamura M, Takeda K, Ogi K, Nakagaki T, Koyama R, Idogawa
            M, Hiratsuka H and Tokino T.
  TITLE     Identification and characterization of the intercellular adhesion
            molecule-2 gene as a novel p53 target
  JOURNAL   Oncotarget 7 (38), 61426-61437 (2016)
   PUBMED   27556181
  REMARK    GeneRIF: ICAM2 induction by p53 has a key role in inhibiting cancer
            cell migration and invasion.ICAM2 acts at least in part through the
            suppression of the MEK-ERK signaling pathway.
REFERENCE   5  (residues 1 to 275)
  AUTHORS   Liu R, Yue Z, Peng X, Wang X, Feng Z and Wan L.
  TITLE     Association Between Intercellular Adhesion Molecule-1, -2, -3
            Plasma Levels and Disease Activity of Ankylosing Spondylitis in the
            Chinese Han Population
  JOURNAL   Spine (Phila Pa 1976) 41 (10), E618-E624 (2016)
   PUBMED   26641849
  REMARK    GeneRIF: Both ICAM-2 and ICAM-1 levels in plasma were markedly
            increased in Ankylosing Spondylitis Chinese patients compared to
            controls.
REFERENCE   6  (residues 1 to 275)
  AUTHORS   Bujia J, Holly A, Kim C, Scanady N and Kastenbauer E.
  TITLE     Expression of human intercellular adhesion molecules in middle ear
            cholesteatoma
  JOURNAL   Am J Otolaryngol 15 (4), 271-275 (1994)
   PUBMED   7526720
REFERENCE   7  (residues 1 to 275)
  AUTHORS   Fawcett J, Holness CL, Needham LA, Turley H, Gatter KC, Mason DY
            and Simmons DL.
  TITLE     Molecular cloning of ICAM-3, a third ligand for LFA-1,
            constitutively expressed on resting leukocytes
  JOURNAL   Nature 360 (6403), 481-484 (1992)
   PUBMED   1448173
REFERENCE   8  (residues 1 to 275)
  AUTHORS   Sansom D, Borrow J, Solomon E and Trowsdale J.
  TITLE     The human ICAM2 gene maps to 17q23-25
  JOURNAL   Genomics 11 (2), 462-464 (1991)
   PUBMED   1769660
REFERENCE   9  (residues 1 to 275)
  AUTHORS   de Fougerolles AR, Stacker SA, Schwarting R and Springer TA.
  TITLE     Characterization of ICAM-2 and evidence for a third
            counter-receptor for LFA-1
  JOURNAL   J Exp Med 174 (1), 253-267 (1991)
   PUBMED   1676048
REFERENCE   10 (residues 1 to 275)
  AUTHORS   Staunton DE, Dustin ML and Springer TA.
  TITLE     Functional cloning of ICAM-2, a cell adhesion ligand for LFA-1
            homologous to ICAM-1
  JOURNAL   Nature 339 (6219), 61-64 (1989)
   PUBMED   2497351
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CA841927.1, BX363874.2 and
            AK223219.1.
            
            Summary: The protein encoded by this gene is a member of the
            intercellular adhesion molecule (ICAM) family. All ICAM proteins
            are type I transmembrane glycoproteins, contain 2-9
            immunoglobulin-like C2-type domains, and bind to the leukocyte
            adhesion LFA-1 protein. This protein may play a role in lymphocyte
            recirculation by blocking LFA-1-dependent cell adhesion. It
            mediates adhesive interactions important for antigen-specific
            immune response, NK-cell mediated clearance, lymphocyte
            recirculation, and other cellular interactions important for immune
            response and surveillance. Several transcript variants encoding the
            same protein have been found for this gene. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. All 5 variants encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.3400576.1,
                                           SRR1163658.155778.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2150385
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..275
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     Protein         1..275
                     /product="intercellular adhesion molecule 2 precursor"
                     /note="ICAM-2"
                     /calculated_mol_wt=28392
     sig_peptide     1..21
                     /calculated_mol_wt=2281
     mat_peptide     22..275
                     /product="intercellular adhesion molecule 2"
                     /calculated_mol_wt=28392
     Region          27..109
                     /region_name="IgI_N_ICAM-2"
                     /note="N-terminal immunoglobulin domain of the
                     intercellular adhesion molecules ICAM-2 (Cluster of
                     Differentiation 102 or CD102); member of the I-set of IgSF
                     domains; cd20995"
                     /db_xref="CDD:409587"
     Region          29..32
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409587"
     Region          35..38
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409587"
     Region          43..49
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409587"
     Site            47
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:9153399,
                     ECO:0007744|PDB:1ZXQ; propagated from UniProtKB/Swiss-Prot
                     (P13598.2)"
     Region          56..61
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409587"
     Region          63..64
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409587"
     Region          66..72
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409587"
     Region          75..80
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409587"
     Site            82
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973,
                     ECO:0000269|PubMed:9153399, ECO:0007744|PDB:1ZXQ;
                     propagated from UniProtKB/Swiss-Prot (P13598.2)"
     Region          86..94
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409587"
     Region          98..108
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409587"
     Site            105
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19349973, ECO:0000269|PubMed:9153399,
                     ECO:0007744|PDB:1ZXQ; propagated from UniProtKB/Swiss-Prot
                     (P13598.2)"
     Region          111..211
                     /region_name="IgC2_2_ICAM-1_like"
                     /note="Second immunoglobulin (Ig)-like C2-set domain of
                     intercellular cell adhesion molecule 1 (ICAM-1), and
                     similar domains; cd05755"
                     /db_xref="CDD:409413"
     Region          111..118
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409413"
     Region          129..138
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409413"
     Region          145..151
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409413"
     Region          153..156
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409413"
     Site            153
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973,
                     ECO:0000269|PubMed:9153399, ECO:0007744|PDB:1ZXQ;
                     propagated from UniProtKB/Swiss-Prot (P13598.2)"
     Region          171..178
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409413"
     Site            176
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P13598.2)"
     Region          186..193
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409413"
     Site            187
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:9153399,
                     ECO:0007744|PDB:1ZXQ; propagated from UniProtKB/Swiss-Prot
                     (P13598.2)"
     Region          202..209
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409413"
     Site            224..248
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P13598.2)"
     Region          251..275
                     /region_name="Required for interaction with EZR, MSN and
                     RDX and co-localization to microvilli.
                     /evidence=ECO:0000250|UniProtKB:P35330"
                     /note="propagated from UniProtKB/Swiss-Prot (P13598.2)"
     CDS             1..275
                     /gene="ICAM2"
                     /gene_synonym="CD102"
                     /coded_by="NM_001099787.2:273..1100"
                     /db_xref="CCDS:CCDS11657.1"
                     /db_xref="GeneID:3384"
                     /db_xref="HGNC:HGNC:5345"
                     /db_xref="MIM:146630"
ORIGIN      
        1 mssfgyrtlt valftliccp gsdekvfevh vrpkklavep kgslevncst tcnqpevggl
       61 etsldkilld eqaqwkhylv snishdtvlq chftcsgkqe smnsnvsvyq pprqviltlq
      121 ptlvavgksf tiecrvptve pldsltlflf rgnetlhyet fgkaapapqe atatfnstad
      181 redghrnfsc lavldlmsrg gnifhkhsap kmleiyepvs dsqmviivtv vsvllslfvt
      241 svllcfifgq hlrqqrmgty gvraawrrlp qafrp
//
LOCUS       NP_001310525             259 aa            linear   PRI 30-DEC-2022
DEFINITION  cytosolic Fe-S cluster assembly factor NUBP1 isoform 5 [Homo
            sapiens].
ACCESSION   NP_001310525
VERSION     NP_001310525.1
DBSOURCE    REFSEQ: accession NM_001323596.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 259)
  AUTHORS   Camponeschi F, Prusty NR, Heider SAE, Ciofi-Baffoni S and Banci L.
  TITLE     GLRX3 Acts as a [2Fe-2S] Cluster Chaperone in the Cytosolic
            Iron-Sulfur Assembly Machinery Transferring [2Fe-2S] Clusters to
            NUBP1
  JOURNAL   J Am Chem Soc 142 (24), 10794-10805 (2020)
   PUBMED   32429669
  REMARK    GeneRIF: GLRX3 Acts as a [2Fe-2S] Cluster Chaperone in the
            Cytosolic Iron-Sulfur Assembly Machinery Transferring [2Fe-2S]
            Clusters to NUBP1.
REFERENCE   2  (residues 1 to 259)
  AUTHORS   Hosgood HD 3rd, Menashe I, He X, Chanock S and Lan Q.
  TITLE     PTEN identified as important risk factor of chronic obstructive
            pulmonary disease
  JOURNAL   Respir Med 103 (12), 1866-1870 (2009)
   PUBMED   19625176
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 259)
  AUTHORS   Shen M, Vermeulen R, Rajaraman P, Menashe I, He X, Chapman RS,
            Yeager M, Thomas G, Burdett L, Hutchinson A, Yuenger J, Chanock S
            and Lan Q.
  TITLE     Polymorphisms in innate immunity genes and lung cancer risk in
            Xuanwei, China
  JOURNAL   Environ Mol Mutagen 50 (4), 285-290 (2009)
   PUBMED   19170196
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   4  (residues 1 to 259)
  AUTHORS   Hosgood HD 3rd, Menashe I, Shen M, Yeager M, Yuenger J, Rajaraman
            P, He X, Chatterjee N, Caporaso NE, Zhu Y, Chanock SJ, Zheng T and
            Lan Q.
  TITLE     Pathway-based evaluation of 380 candidate genes and lung cancer
            susceptibility suggests the importance of the cell cycle pathway
  JOURNAL   Carcinogenesis 29 (10), 1938-1943 (2008)
   PUBMED   18676680
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 259)
  AUTHORS   Stehling O, Netz DJ, Niggemeyer B, Rosser R, Eisenstein RS, Puccio
            H, Pierik AJ and Lill R.
  TITLE     Human Nbp35 is essential for both cytosolic iron-sulfur protein
            assembly and iron homeostasis
  JOURNAL   Mol Cell Biol 28 (17), 5517-5528 (2008)
   PUBMED   18573874
  REMARK    GeneRIF: The cytosolic soluble P-loop NTPase termed huNbp35 (also
            known as Nubp1) was identified as an Fe/S protein, and its role in
            the maturation of Fe/S proteins in HeLa cells, is defined.
REFERENCE   6  (residues 1 to 259)
  AUTHORS   Taniguchi N, Taniura H, Niinobe M, Takayama C, Tominaga-Yoshino K,
            Ogura A and Yoshikawa K.
  TITLE     The postmitotic growth suppressor necdin interacts with a
            calcium-binding protein (NEFA) in neuronal cytoplasm
  JOURNAL   J Biol Chem 275 (41), 31674-31681 (2000)
   PUBMED   10915798
REFERENCE   7  (residues 1 to 259)
  AUTHORS   Nakashima H, Grahovac MJ, Mazzarella R, Fujiwara H, Kitchen JR,
            Threat TA and Ko MS.
  TITLE     Two novel mouse genes--Nubp2, mapped to the t-complex on chromosome
            17, and Nubp1, mapped to chromosome 16--establish a new gene family
            of nucleotide-binding proteins in eukaryotes
  JOURNAL   Genomics 60 (2), 152-160 (1999)
   PUBMED   10486206
REFERENCE   8  (residues 1 to 259)
  AUTHORS   Shahrestanifar M, Saha DP, Scala LA, Basu A and Howells RD.
  TITLE     Cloning of a human cDNA encoding a putative nucleotide-binding
            protein related to Escherichia coli MinD
  JOURNAL   Gene 147 (2), 281-285 (1994)
   PUBMED   7926816
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC074136.4.
            
            Summary: NUBP1 is a member of the NUBP/MRP subfamily of ATP-binding
            proteins (Nakashima et al., 1999 [PubMed 10486206]).[supplied by
            OMIM, Mar 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.519876.1,
                                           SRR14327317.560468.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142586, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..259
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.13"
     Protein         1..259
                     /product="cytosolic Fe-S cluster assembly factor NUBP1
                     isoform 5"
                     /note="nucleotide binding protein 1 (MinD homolog, E.
                     coli); nucleotide binding protein 1 (E.coli MinD like);
                     cytosolic Fe-S cluster assembly factor NUBP1; nucleotide
                     binding protein (e.coli MinD like); NBP 1;
                     nucleotide-binding protein 1"
                     /calculated_mol_wt=27694
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (P53384.2)"
     Region          53..>239
                     /region_name="ParA"
                     /note="NUBPL iron-transfer P-loop NTPase; pfam10609"
                     /db_xref="CDD:431392"
     CDS             1..259
                     /gene="NUBP1"
                     /gene_synonym="CIAO5; NBP; NBP1; NBP35"
                     /coded_by="NM_001323596.2:23..802"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:4682"
                     /db_xref="HGNC:HGNC:8041"
                     /db_xref="MIM:600280"
ORIGIN      
        1 meevphdcpg adsaqagrga scqgcpnqrl casgagatpd taieeikekm ktvkhkilvl
       61 sgkggvgkst fsahlahgla edentqiall didicgpsip kimglegeqv hqsgsgwspv
      121 yvednlgvms vgfllsspdd aviwrgpkkn gmikqflrdv dwgevdyliv dtppgtsdeh
      181 lsvvrylata hidgaviitt pqevslqdvr keinfcrkvk lpiigvvenm sgficpkckv
      241 rivtkaslfs ltpqipqpr
//
LOCUS       NP_001269401             632 aa            linear   PRI 30-DEC-2022
DEFINITION  golgin subfamily A member 8J [Homo sapiens].
ACCESSION   NP_001269401 XP_003959986 XP_003960616
VERSION     NP_001269401.1
DBSOURCE    REFSEQ: accession NM_001282472.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 632)
  AUTHORS   Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K,
            Whittaker CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG,
            Kodira CD, Madan A, Qin S, Yang X, Abbasi N, Abouelleil A, Arachchi
            HM, Baradarani L, Birditt B, Bloom S, Bloom T, Borowsky ML, Burke
            J, Butler J, Cook A, DeArellano K, DeCaprio D, Dorris L 3rd, Dors
            M, Eichler EE, Engels R, Fahey J, Fleetwood P, Friedman C, Gearin
            G, Hall JL, Hensley G, Johnson E, Jones C, Kamat A, Kaur A, Locke
            DP, Madan A, Munson G, Jaffe DB, Lui A, Macdonald P, Mauceli E,
            Naylor JW, Nesbitt R, Nicol R, O'Leary SB, Ratcliffe A, Rounsley S,
            She X, Sneddon KM, Stewart S, Sougnez C, Stone SM, Topham K,
            Vincent D, Wang S, Zimmer AR, Birren BW, Hood L, Lander ES and
            Nusbaum C.
  TITLE     Analysis of the DNA sequence and duplication history of human
            chromosome 15
  JOURNAL   Nature 440 (7084), 671-675 (2006)
   PUBMED   16572171
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC120045.19, DB098469.1 and DB054802.1.
            On or before Sep 12, 2013 this sequence version replaced
            XP_003959986.2, XP_003960616.2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            CCDS Note: The exon combination of this CCDS representation is
            inferred. It is supported by partial transcript alignments and by
            paralogous golgin A8 family alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000567927.2/ ENSP00000456401.1
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, expression, longest
                                         protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..632
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.2"
     Protein         1..632
                     /product="golgin subfamily A member 8J"
                     /note="Golgin subfamily A member 8-like protein 3"
                     /calculated_mol_wt=71644
     Region          1..76
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMD2.3)"
     Region          <86..>325
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          226..>459
                     /region_name="GOLGA2L5"
                     /note="Putative golgin subfamily A member 2-like protein
                     5; pfam15070"
                     /db_xref="CDD:434436"
     Region          352..377
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMD2.3)"
     Region          423..452
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMD2.3)"
     Region          496..524
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMD2.3)"
     Region          593..632
                     /region_name="GM130_C"
                     /note="GM130 C-terminal binding motif; pfam19046"
                     /db_xref="CDD:436918"
     CDS             1..632
                     /gene="GOLGA8J"
                     /coded_by="NM_001282472.2:99..1997"
                     /db_xref="CCDS:CCDS61574.1"
                     /db_xref="GeneID:653073"
                     /db_xref="HGNC:HGNC:38650"
ORIGIN      
        1 maeetqhnkl aaakkklkey wqknsprvpa ganrnrktng sipekatsgg cqpprdsatg
       61 fhregptssa tlkdlespcq eravvldsrs veisqlknti kslkqqkkqv ehqleeekka
      121 nnkkqkakrv levqiqtlni qkeelntdly hmkrslryfe ekskdlavrl qhslqrkgel
      181 esvlsnvmat qkkkanqlss rskartewkl eqsmreeall kvqltqfkes fqqvqlerde
      241 ysehlkgera rwqqrmrkms qeictlkkek qqdmrrvekl erslsklknq maeplppepp
      301 avpsevelqh lrkelervag elqaqvknnq risllnqrqe erireqeerl rkqeeriqeq
      361 hkslqqlakp qsvfkepnne nknalqleqq vkelqeklge ehleaasqqn qqltaqlslm
      421 alpgeghgge hldsegeeap rpmpsvpedp esreamssfm dhleekadls elvkkkelcf
      481 ihhwrerchq kthhllsepg grakdaalgg ghhqagaqgg degeaagaaa dgiaaysnyn
      541 nghrkflaaa hnsadepgpg apapqelgaa dkhghlcevs ltssaqgear edplldkpta
      601 qpivqdhqeh pglgsnccvp flcwawlprr rr
//
LOCUS       NP_001308451             970 aa            linear   PRI 31-DEC-2022
DEFINITION  zinc finger protein 845 [Homo sapiens].
ACCESSION   NP_001308451
VERSION     NP_001308451.1
DBSOURCE    REFSEQ: accession NM_001321522.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 970)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (residues 1 to 970)
  AUTHORS   Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R,
            Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine
            M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J,
            Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K,
            Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T,
            Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi
            T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato
            K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H,
            Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S,
            Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta
            T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO,
            Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N,
            Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y,
            Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H,
            Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A,
            Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T,
            Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai
            A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H,
            Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M,
            Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y,
            Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K,
            Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M,
            Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano
            J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T,
            Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T,
            Nakamura Y, Ohara O, Isogai T and Sugano S.
  TITLE     Complete sequencing and characterization of 21,243 full-length
            human cDNAs
  JOURNAL   Nat Genet 36 (1), 40-45 (2004)
   PUBMED   14702039
REFERENCE   3  (residues 1 to 970)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL,
            Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P,
            Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy
            SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH,
            Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW,
            Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J,
            Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M,
            Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW,
            Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J,
            Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U,
            Smailus DE, Schnerch A, Schein JE, Jones SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010467.9.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.102221.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..970
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..970
                     /product="zinc finger protein 845"
                     /calculated_mol_wt=113002
     Region          7..48
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          169..564
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          217..237
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          245..265
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          273..293
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          301..321
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          329..349
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          357..377
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(362,364,366,368..369,372..373,376,390,392,396..397,
                     400..401,404,418,420,422,424..425,428..429,432)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          381..813
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          385..405
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          413..433
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          441..461
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          469..489
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          497..517
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          525..545
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          553..573
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          581..601
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          609..629
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          637..657
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          665..685
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          693..713
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(698,700,702,704..705,708..709,712,726,728,732..733,
                     736..737,740,754,756,758,760..761,764..765,768)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          721..741
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          749..769
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          777..797
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          805..825
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          833..853
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(838,840,842,844..845,848..849,852,866,868,872..873,
                     876..877,880,894,896,898,900..901,904..905,908)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          845..870
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          861..881
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          873..898
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          889..909
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          917..937
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          945..965
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..970
                     /gene="ZNF845"
                     /coded_by="NM_001321522.2:273..3185"
                     /db_xref="CCDS:CCDS46170.1"
                     /db_xref="GeneID:91664"
                     /db_xref="HGNC:HGNC:25112"
ORIGIN      
        1 malsqglltf rdvaiefsqe ewkcldpaqr tlyrdvmlen yrnlvsldis skcmmkefss
       61 taqgntevih tgtlqrherh higdfcfqem ekdihdfefq wkedernshe apmteikqlt
      121 gstnrhdqrh agnkpikdql gssfhshlpe lhmfqtegki gnqveksins aslvstsqri
      181 scrpkthisk nygnnflnss lltqkqevhm reksfqcnes gkafnyssvl rkhqiihlga
      241 kqykcdvcgk vfnqkrylac hrrchtgkkp ykcndcgktf sqeltltchh rlhtgekhyk
      301 csecgktfsr nsalvihkai htgeksykcn ecgktfsqts ylvyhrrlht gekpykceec
      361 dkafsfksnl erhrkihtge kpykcnecsr tfsrkssltr hrrlhtgekp ykcndcgktf
      421 sqmsslvyhr rlhtgekpyk ceecdeafsf ksnlerhrri htgekpykcn dcgktfsqts
      481 slvyhrrlht gekpykceec deafsfksnl erhriihtge klykcnecgk tfsrkssltr
      541 hcrlhtgekp yqcnecgkaf rgqsaliyhq aihgigklyk cndchqvfsn attianhwri
      601 hneersykcn rcgkffrhrs ylavhwrths gekpykceec deafsfksnl qrhrrihtge
      661 kpyrcnecgk tfsrksyltc hrrlhtgekp ykcnecgktf grnsaliihk aihtgekpyk
      721 cnecgkafsq kssltchlrl htgekpykce ecdkvfsrks slekhrriht gekpykckvc
      781 dkafgrdshl aqhtrihtge kpykcnecgk nfrhnsalvi hkaihsgekp ykcnecgktf
      841 rhnsaleihk aihtgekpyk csecgkvfnr kanlsrhhrl htgekpykcn kcgkvfnqqa
      901 hlachhriht gekpykcnec gktfrhnsvl vihktihtge kpykcnecgk vfnrkaklar
      961 hhrihtgkkh
//
LOCUS       NP_001263295              95 aa            linear   PRI 31-DEC-2022
DEFINITION  uncharacterized protein C9orf153 [Homo sapiens].
ACCESSION   NP_001263295
VERSION     NP_001263295.1
DBSOURCE    REFSEQ: accession NM_001276366.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 95)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL137849.13.
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the
            same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BG772848.1, BG772974.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000339137.7/ ENSP00000344865.2
            RefSeq Select criteria :: based on manual assertion, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..95
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.33"
     Protein         1..95
                     /product="uncharacterized protein C9orf153"
                     /calculated_mol_wt=10453
     Region          1..89
                     /region_name="DUF5532"
                     /note="Family of unknown function (DUF5532); pfam17673"
                     /db_xref="CDD:435964"
     CDS             1..95
                     /gene="C9orf153"
                     /gene_synonym="bA507D14.1"
                     /coded_by="NM_001276366.4:135..422"
                     /db_xref="CCDS:CCDS35055.2"
                     /db_xref="GeneID:389766"
                     /db_xref="HGNC:HGNC:31456"
ORIGIN      
        1 mfltgdtspa ednreatlpq cslpelyaci enfnkeskks nllkmhgisl neaqevlarn
       61 lnvmsftrga dvrgdlqpvi rktiheskgs gmeif
//
LOCUS       NP_001387280             312 aa            linear   PRI 01-JAN-2023
DEFINITION  single-stranded DNA-binding protein 2 isoform 19 [Homo sapiens].
ACCESSION   NP_001387280
VERSION     NP_001387280.1
DBSOURCE    REFSEQ: accession NM_001400351.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 312)
  AUTHORS   Schwab C, Roberts K, Boer JM, Gohring G, Steinemann D, Vora A,
            Macartney C, Hough R, Thorn Z, Dillon R, Escherich G, Cazzaniga G,
            Schlegelberger B, Loh M, den Boer ML, Moorman AV and Harrison CJ.
  TITLE     SSBP2-CSF1R is a recurrent fusion in B-lineage acute lymphoblastic
            leukemia with diverse genetic presentation and variable outcome
  JOURNAL   Blood 137 (13), 1835-1838 (2021)
   PUBMED   33197935
  REMARK    GeneRIF: SSBP2-CSF1R is a recurrent fusion in B-lineage acute
            lymphoblastic leukemia with diverse genetic presentation and
            variable outcome.
REFERENCE   2  (residues 1 to 312)
  AUTHORS   Lawson T, El-Kamand S, Boucher D, Duong DC, Kariawasam R, Bonvin
            AMJJ, Richard DJ, Gamsjaeger R and Cubeddu L.
  TITLE     The structural details of the interaction of single-stranded DNA
            binding protein hSSB2 (NABP1/OBFC2A) with UV-damaged DNA
  JOURNAL   Proteins 88 (2), 319-326 (2020)
   PUBMED   31443132
  REMARK    GeneRIF: The structural details of the interaction of
            single-stranded DNA binding protein hSSB2 (NABP1/OBFC2A) with
            UV-damaged DNA.
REFERENCE   3  (residues 1 to 312)
  AUTHORS   Wang H, Kim J, Wang Z, Yan XX, Dean A and Xu W.
  TITLE     Crystal structure of human LDB1 in complex with SSBP2
  JOURNAL   Proc Natl Acad Sci U S A 117 (2), 1042-1048 (2020)
   PUBMED   31892537
  REMARK    GeneRIF: Single-stranded DNA binding proteins (SSBPs) interact
            specifically with the LDB/Chip conserved domain (LCCD) of LDB
            proteins and stabilize LDBs by preventing their proteasomal
            degradation, thus promoting their functions in gene regulation.
REFERENCE   4  (residues 1 to 312)
  AUTHORS   Kim H, Kim Y, Bang S, Park S, Jee S, Sim J, Shin SJ, Paik SS and
            Jang K.
  TITLE     Low Expression of Single-stranded DNA Binding Protein 2 (SSBP2)
            Predicts Unfavourable Postoperative Outcomes in Patients With Clear
            Cell Renal Cell Carcinoma
  JOURNAL   In Vivo 34 (1), 101-107 (2020)
   PUBMED   31882468
  REMARK    GeneRIF: CcRCC with low SSBP2 expression was associated with
            adverse clinicopathological characteristics and poor patient
            outcomes.
REFERENCE   5  (residues 1 to 312)
  AUTHORS   Wang H, Wang Z, Tang Q, Yan XX and Xu W.
  TITLE     Crystal structure of the LUFS domain of human single-stranded DNA
            binding Protein 2 (SSBP2)
  JOURNAL   Protein Sci 28 (4), 788-793 (2019)
   PUBMED   30676665
  REMARK    GeneRIF: This study reports a crystal structure of the highly
            conserved N-terminal LUFS domain of human SSBP2 at 1.52 A
            resolution.
REFERENCE   6  (residues 1 to 312)
  AUTHORS   Fleisig HB, Orazio NI, Liang H, Tyler AF, Adams HP, Weitzman MD and
            Nagarajan L.
  TITLE     Adenoviral E1B55K oncoprotein sequesters candidate leukemia
            suppressor sequence-specific single-stranded DNA-binding protein 2
            into aggresomes
  JOURNAL   Oncogene 26 (33), 4797-4805 (2007)
   PUBMED   17311003
  REMARK    GeneRIF: Results suggest that subverting SSBP2 function by
            oncoprotein E1B55K may contribute to cell transformation by viral
            oncoproteins.
REFERENCE   7  (residues 1 to 312)
  AUTHORS   Liang H, Samanta S and Nagarajan L.
  TITLE     SSBP2, a candidate tumor suppressor gene, induces growth arrest and
            differentiation of myeloid leukemia cells
  JOURNAL   Oncogene 24 (16), 2625-2634 (2005)
   PUBMED   15782145
  REMARK    GeneRIF: Our findings are consistent with human SSBP2 being a novel
            regulator of hematopoietic growth and differentiation, whose loss
            confers a block in differentiation advantage to myeloid leukemic
            cells.
REFERENCE   8  (residues 1 to 312)
  AUTHORS   Castro P, Liang H, Liang JC and Nagarajan L.
  TITLE     A novel, evolutionarily conserved gene family with putative
            sequence-specific single-stranded DNA-binding activity
  JOURNAL   Genomics 80 (1), 78-85 (2002)
   PUBMED   12079286
  REMARK    GeneRIF: Member of a closely related, evolutionarily conserved, and
            ubiquitously expressed gene family, potential tumor suppressor
REFERENCE   9  (residues 1 to 312)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (residues 1 to 312)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016562.7, AC026419.5 and
            AC010623.10.
            
            Summary: This gene encodes a subunit of a protein complex that
            interacts with single-stranded DNA and is involved in the DNA
            damage response and maintenance of genome stability. The encoded
            protein may also play a role in telomere repair. A variant of this
            gene may be associated with survival in human glioblastoma
            patients. [provided by RefSeq, Sep 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3689264.1,
                                           SRR14038195.2557168.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..312
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     Protein         1..312
                     /product="single-stranded DNA-binding protein 2 isoform
                     19"
                     /note="sequence-specific single-stranded-DNA-binding
                     protein 2"
                     /calculated_mol_wt=31801
     Region          32..289
                     /region_name="SSDP"
                     /note="Single-stranded DNA binding protein, SSDP;
                     pfam04503"
                     /db_xref="CDD:427984"
     CDS             1..312
                     /gene="SSBP2"
                     /gene_synonym="HSPC116; SOSS-B2"
                     /coded_by="NM_001400351.1:56..994"
                     /note="isoform 19 is encoded by transcript variant 22"
                     /db_xref="GeneID:23635"
                     /db_xref="HGNC:HGNC:15831"
                     /db_xref="MIM:607389"
ORIGIN      
        1 mygkgksnss avpsdsqare klalyvyeyl lhvgaqksaq tflsesaaaa pspvlgnipp
       61 gdgmpvgpvp pgffqpfmsp rypggprppl ripnqalggv pgsqpllpsg mdptrqqghp
      121 nmggpmqrmt pprgmvplgp qnyggamrpp lnalggpgmp gmnmgpgggr pwpnptnans
      181 ipyssaspgn yvgppggggp pgtpimpspa dstnsgdnmy tlmnavppgp nrpnfpmgpg
      241 sdgpmgglgg meshhmngsl gsgdmdsisk nspnnmslsn qpgtprddge mggnflnpfq
      301 sesyspsmtm sv
//
LOCUS       NP_001389628            1277 aa            linear   PRI 01-JAN-2023
DEFINITION  kinectin isoform 11 [Homo sapiens].
ACCESSION   NP_001389628
VERSION     NP_001389628.1
DBSOURCE    REFSEQ: accession NM_001402699.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1277)
  AUTHORS   Jakob M, Mattes LM, Unger K, Kueffer S, Hess J, Canis M, Schirmer
            M, Spiegel JL, Haubner F, Ihler F, Weiss BG and Kitz J.
  TITLE     Human microRNA-182-5p and kinectin 1: Potential biomarkers for
            prognosis in oral squamous cell carcinoma
  JOURNAL   Head Neck 43 (12), 3707-3719 (2021)
   PUBMED   34591354
  REMARK    GeneRIF: Human microRNA-182-5p and kinectin 1: Potential biomarkers
            for prognosis in oral squamous cell carcinoma.
REFERENCE   2  (residues 1 to 1277)
  AUTHORS   Gao L, Chen S, Hong M, Zhou W, Wang B, Qiu J, Xia J, Zhao P, Fu L,
            Wang J, Dai Y, Xie N, Yang Q, Huang HD, Gao X and Zou C.
  TITLE     Kinectin 1 promotes the growth of triple-negative breast cancer via
            directly co-activating NF-kappaB/p65 and enhancing its
            transcriptional activity
  JOURNAL   Signal Transduct Target Ther 6 (1), 250 (2021)
   PUBMED   34219129
  REMARK    GeneRIF: Kinectin 1 promotes the growth of triple-negative breast
            cancer via directly co-activating NF-kappaB/p65 and enhancing its
            transcriptional activity.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1277)
  AUTHORS   Tuvi I, Harro J, Kiive E, Vaht M and Bachmann T.
  TITLE     Associations of attention distractibility with attention deficit
            and with variation in the KTN1 gene
  JOURNAL   Neurosci Lett 738, 135397 (2020)
   PUBMED   32956741
  REMARK    GeneRIF: Associations of attention distractibility with attention
            deficit and with variation in the KTN1 gene.
REFERENCE   4  (residues 1 to 1277)
  AUTHORS   Alberts AS, Bouquin N, Johnston LH and Treisman R.
  TITLE     Analysis of RhoA-binding proteins reveals an interaction domain
            conserved in heterotrimeric G protein beta subunits and the yeast
            response regulator protein Skn7
  JOURNAL   J Biol Chem 273 (15), 8616-8622 (1998)
   PUBMED   9535835
REFERENCE   5  (residues 1 to 1277)
  AUTHORS   Rao PN, Yu H, Hodge R, Pettenati MJ and Sheetz MP.
  TITLE     Assignment of the human kinectin gene (KTN1), encoding a
            kinesin-binding protein, to chromosome 14 band q22.1 by in situ
            hybridization
  JOURNAL   Cytogenet Cell Genet 79 (3-4), 196-197 (1997)
   PUBMED   9605849
REFERENCE   6  (residues 1 to 1277)
  AUTHORS   Hotta K, Tanaka K, Mino A, Kohno H and Takai Y.
  TITLE     Interaction of the Rho family small G proteins with kinectin, an
            anchoring protein of kinesin motor
  JOURNAL   Biochem Biophys Res Commun 225 (1), 69-74 (1996)
   PUBMED   8769096
REFERENCE   7  (residues 1 to 1277)
  AUTHORS   Print CG, Morris CM, Spurr NK, Rooke L and Krissansen GW.
  TITLE     The CG-1 gene, a member of the kinectin and ES/130 family, maps to
            human chromosome band 14q22
  JOURNAL   Immunogenetics 43 (4), 227-229 (1996)
   PUBMED   8575822
REFERENCE   8  (residues 1 to 1277)
  AUTHORS   Yu H, Nicchitta CV, Kumar J, Becker M, Toyoshima I and Sheetz MP.
  TITLE     Characterization of kinectin, a kinesin-binding protein: primary
            sequence and N-terminal topogenic signal analysis
  JOURNAL   Mol Biol Cell 6 (2), 171-183 (1995)
   PUBMED   7787244
REFERENCE   9  (residues 1 to 1277)
  AUTHORS   Futterer A, Kruppa G, Kramer B, Lemke H and Kronke M.
  TITLE     Molecular cloning and characterization of human kinectin
  JOURNAL   Mol Biol Cell 6 (2), 161-170 (1995)
   PUBMED   7787243
REFERENCE   10 (residues 1 to 1277)
  AUTHORS   Print CG, Leung E, Harrison JE, Watson JD and Krissansen GW.
  TITLE     Cloning of a gene encoding a human leukocyte protein characterised
            by extensive heptad repeats
  JOURNAL   Gene 144 (2), 221-228 (1994)
   PUBMED   8039706
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138499.4.
            
            Summary: This gene encodes an integral membrane protein that is a
            member of the kinectin protein family. The encoded protein is
            primarily localized to the endoplasmic reticulum membrane. This
            protein binds kinesin and may be involved in intracellular
            organelle motility. This protein also binds translation elongation
            factor-delta and may be involved in the assembly of the elongation
            factor-1 complex. Alternate splicing results in multiple transcript
            variants of this gene. [provided by RefSeq, Aug 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.222926.1,
                                           SRR14372079.3481554.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1277
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.3"
     Protein         1..1277
                     /product="kinectin isoform 11"
                     /note="CG-1 antigen; kinesin receptor"
                     /calculated_mol_wt=146845
     Region          29..160
                     /region_name="Rib_recp_KP_reg"
                     /note="Ribosome receptor lysine/proline rich region;
                     pfam05104"
                     /db_xref="CDD:428305"
     Region          <297..550
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          458..1217
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..1277
                     /gene="KTN1"
                     /gene_synonym="CG1; KNT; MU-RMS-40.19"
                     /coded_by="NM_001402699.1:303..4136"
                     /note="isoform 11 is encoded by transcript variant 22"
                     /db_xref="GeneID:3895"
                     /db_xref="HGNC:HGNC:6467"
                     /db_xref="MIM:600381"
ORIGIN      
        1 mefyesayfi vlipsivitv iflffwlfmk etlydevlak qkreqklipt ktdkkkaekk
       61 knkkkeiqng nlhesdsesv prdfklsdal aveddqvapv plnvvetsss vrerkkkekk
      121 qkpvleeqvi kesdaskipg kkvepvpvtk qptppseaaa skkkpgqkks kngsddqdkk
      181 vetlmvpskr qealplhqet kqesgsgkkk asskkqkten vfvdepliha ttyiplmdna
      241 dsspvvdkre vidllkpdqv egiqksgtkk lktetdkena evkfkdflls lktmmfsede
      301 alcvvdllke ksgviqdalk ksskgelttl ihqlqekdkl laavkedaaa tkdrckqltq
      361 emmtekersn vvitrmkdri gtlekehnvf qnkihvsyqe tqqmqmkfqq vreqmeaeia
      421 hlkqengilr davsnttnql eskqsaelnk lrqdyarlvn eltektgklq qeevqkknae
      481 qaatqlkvql qeaerrweev qsyirkrtae heaaqqdlqs kfvakenevq slhskltdtl
      541 vskqqleqrl mqlmeseqkr vnkeeslqmq vqdileqnea lkaqiqqfhs qiaaqtsasv
      601 laeelhkvia ekdkqikqte dslaserdrl tskeeelkdi qnmnfllkae vqklqalane
      661 qaaaahelek mqqsvyvkdd kirlleeqlq heisnkmeef kilndqnkal ksevqklqtl
      721 vseqpnkdvv eqmekciqek deklktveel letgliqvat keeelnairt enssltkevq
      781 dlkakqndqv sfaslveelk kvihekdgki ksveelleae llkvankekt vqlsitskvq
      841 elqnllkgke eqmntmkavl eekekdlant gkwlqdlqee neslkahvqe vaqhnlkeas
      901 sasqfeelei vlkekenelk rleamlkere sdlssktqll qdvqdenklf ksqieqlkqq
      961 nyqqassfpp heellkvise rekeisglwn eldslkdave hqrkknnerq qqveavelea
     1021 kevlkklfpk vsvpsnlsyg ewlhgfekka kecmagtsgs eevkvlehkl keademhtll
     1081 qlecekyksv laetegilqk lqrsveqeen kwkvkvdesh ktikqmqssf tsseqelerl
     1141 rsenkdienl rrerehleme lekaemerst yvtevrelka qlnetltklr teqnerqkva
     1201 gdlhkaqqsl eliqskivka agdttviens dvspetesse ketmsvslnq tvtqlqqllq
     1261 avnqqltkek ehyqvle
//
LOCUS       NP_001357286             435 aa            linear   PRI 01-JAN-2023
DEFINITION  roundabout homolog 3 isoform b [Homo sapiens].
ACCESSION   NP_001357286
VERSION     NP_001357286.1
DBSOURCE    REFSEQ: accession NM_001370357.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 435)
  AUTHORS   Zhang Z, Zhang Z, Shu L, Meng Y, Ma J, Gao R and Zhou X.
  TITLE     A Genetic Variant of the ROBO3 Gene is Associated With Adolescent
            Idiopathic Scoliosis in the Chinese Population
  JOURNAL   Spine (Phila Pa 1976) 48 (2), E20-E24 (2023)
   PUBMED   36149840
  REMARK    GeneRIF: A Genetic Variant of the ROBO3 Gene is Associated With
            Adolescent Idiopathic Scoliosis in the Chinese Population.
REFERENCE   2  (residues 1 to 435)
  AUTHORS   Cai MS, Luo AL, Liu XP, Jiang H and Liu XD.
  TITLE     [Expression of ROBO3 and Its Effect on Cell Proliferation and
            Apoptosis in Pediatric Patients with Acute Myeloid Leukemia]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 30 (5), 1324-1330 (2022)
   PUBMED   36208230
  REMARK    GeneRIF: [Expression of ROBO3 and Its Effect on Cell Proliferation
            and Apoptosis in Pediatric Patients with Acute Myeloid Leukemia].
REFERENCE   3  (residues 1 to 435)
  AUTHORS   Werner M, Dyas A, Parfentev I, Schmidt GE, Mieczkowska IK,
            Muller-Kirschbaum LC, Muller C, Kalkhof S, Reinhardt O, Urlaub H,
            Alves F, Gallwas J, Prokakis E and Wegwitz F.
  TITLE     ROBO3s: a novel ROBO3 short isoform promoting breast cancer
            aggressiveness
  JOURNAL   Cell Death Dis 13 (9), 762 (2022)
   PUBMED   36057630
  REMARK    GeneRIF: ROBO3s: a novel ROBO3 short isoform promoting breast
            cancer aggressiveness.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 435)
  AUTHORS   Krebs N, Klein L, Wegwitz F, Espinet E, Maurer HC, Tu M, Penz F,
            Kuffer S, Xu X, Bohnenberger H, Cameron S, Brunner M, Neesse A,
            Kishore U, Hessmann E, Trumpp A, Strobel P, Brekken RA, Ellenrieder
            V and Singh SK.
  TITLE     Axon guidance receptor ROBO3 modulates subtype identity and
            prognosis via AXL-associated inflammatory network in pancreatic
            cancer
  JOURNAL   JCI Insight 7 (16), e154475 (2022)
   PUBMED   35993361
  REMARK    GeneRIF: Axon guidance receptor ROBO3 modulates subtype identity
            and prognosis via AXL-associated inflammatory network in pancreatic
            cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 435)
  AUTHORS   Cai Z, Wei J, Chen Z and Wang H.
  TITLE     High ROBO3 expression predicts poor survival in non-M3 acute
            myeloid leukemia
  JOURNAL   Exp Biol Med (Maywood) 246 (10), 1184-1197 (2021)
   PUBMED   33541130
  REMARK    GeneRIF: High ROBO3 expression predicts poor survival in non-M3
            acute myeloid leukemia.
REFERENCE   6  (residues 1 to 435)
  AUTHORS   Chan,W.M., Traboulsi,E.I., Arthur,B., Friedman,N., Andrews,C. and
            Engle,E.C.
  TITLE     Horizontal gaze palsy with progressive scoliosis can result from
            compound heterozygous mutations in ROBO3
  JOURNAL   J Med Genet 43 (3), e11 (2006)
   PUBMED   16525029
  REMARK    GeneRIF: Incidence of scoliosis in individuals harbouring
            heterozygous ROBO3 mutations may be greater than in the general
            population.
REFERENCE   7  (residues 1 to 435)
  AUTHORS   Camurri L, Mambetisaeva E, Davies D, Parnavelas J, Sundaresan V and
            Andrews W.
  TITLE     Evidence for the existence of two Robo3 isoforms with divergent
            biochemical properties
  JOURNAL   Mol Cell Neurosci 30 (4), 485-493 (2005)
   PUBMED   16226035
  REMARK    GeneRIF: Here we describe and compare two human Robo3 isoforms,
            Robo3A and Robo3B, which differ by the insertion of 26 amino acids
            at the N-terminus, and these forms appear to be evolutionary
            conserved
REFERENCE   8  (residues 1 to 435)
  AUTHORS   Bosley TM, Salih MA, Jen JC, Lin DD, Oystreck D, Abu-Amero KK,
            MacDonald DB, al Zayed Z, al Dhalaan H, Kansu T, Stigsby B and
            Baloh RW.
  TITLE     Neurologic features of horizontal gaze palsy and progressive
            scoliosis with mutations in ROBO3
  JOURNAL   Neurology 64 (7), 1196-1203 (2005)
   PUBMED   15824346
  REMARK    GeneRIF: The major clinical characteristics of patients with
            mutated ROBO3 were horizontal gaze palsy, progressive scoliosis,
            and brainstem malformations.
REFERENCE   9  (residues 1 to 435)
  AUTHORS   Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rub U, Shattuck D,
            Salamon G, Kudo LC, Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H,
            Al Zayed Z, MacDonald DB, Stigsby B, Plaitakis A, Dretakis EK,
            Gottlob I, Pieh C, Traboulsi EI, Wang Q, Wang L, Andrews C, Yamada
            K, Demer JL, Karim S, Alger JR, Geschwind DH, Deller T, Sicotte NL,
            Nelson SF, Baloh RW and Engle EC.
  TITLE     Mutations in a human ROBO gene disrupt hindbrain axon pathway
            crossing and morphogenesis
  JOURNAL   Science 304 (5676), 1509-1513 (2004)
   PUBMED   15105459
  REMARK    GeneRIF: identified mutations in the ROBO3 gene in patients
            affected with horizontal gaze palsy with progressive scoliosis
            (HGPPS);ROBO3 is required for hindbrain axon midline crossing
            GeneRIF: mutations in the ROBO3 gene, which shares homology with
            roundabout genes important in axon guidance in developing
            Drosophila, zebrafish, and mouse.
REFERENCE   10 (residues 1 to 435)
  AUTHORS   Jen J, Coulin CJ, Bosley TM, Salih MA, Sabatti C, Nelson SF and
            Baloh RW.
  TITLE     Familial horizontal gaze palsy with progressive scoliosis maps to
            chromosome 11q23-25
  JOURNAL   Neurology 59 (3), 432-435 (2002)
   PUBMED   12177379
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003501.2.
            
            Summary: This gene is a member of the Roundabout (ROBO) gene family
            that controls neurite outgrowth, growth cone guidance, and axon
            fasciculation. ROBO proteins are a subfamily of the immunoglobulin
            transmembrane receptor superfamily. SLIT proteins 1-3, a family of
            secreted chemorepellants, are ligands for ROBO proteins and
            SLIT/ROBO interactions regulate myogenesis, leukocyte migration,
            kidney morphogenesis, angiogenesis, and vasculogenesis in addition
            to neurogenesis. This gene, ROBO3, has a putative extracellular
            domain with five immunoglobulin (Ig)-like loops and three
            fibronectin (Fn) type III motifs, a transmembrane segment, and a
            cytoplasmic tail with three conserved signaling motifs: CC0, CC2,
            and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family
            members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal
            navigation at the ventral midline of the neural tube. In mouse,
            loss of Robo3 results in a complete failure of commissural axons to
            cross the midline throughout the spinal cord and the hindbrain.
            Mutations ROBO3 result in horizontal gaze palsy with progressive
            scoliosis (HGPPS); an autosomal recessive disorder characterized by
            congenital absence of horizontal gaze, progressive scoliosis, and
            failure of the corticospinal and somatosensory axon tracts to cross
            the midline in the medulla. [provided by RefSeq, May 2019].
            
            Transcript Variant: This variant (3), as well as variants 2 and
            4-6, encodes isoform b.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.517556.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..435
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     Protein         1..435
                     /product="roundabout homolog 3 isoform b"
                     /note="retinoblastoma inhibiting gene 1; roundabout, axon
                     guidance receptor, homolog 3; roundabout homolog 3;
                     roundabout-like protein 3"
                     /calculated_mol_wt=46221
     Region          <175..374
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     CDS             1..435
                     /gene="ROBO3"
                     /gene_synonym="HGPPS; HGPPS1; HGPS; RBIG1; RIG1"
                     /coded_by="NM_001370357.1:194..1501"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="GeneID:64221"
                     /db_xref="HGNC:HGNC:13433"
                     /db_xref="MIM:608630"
ORIGIN      
        1 mglgpapysw ladswphpsr spsaqeprgs ccpsnpdpdd ryyneagisl ylaqtargta
       61 apgegpvyst idpageelqt fhggfpqhps gdlgpwsqya ppewsqgdsg akggkvkllg
      121 kpvqmpslnw pealppppps celsclegpe eelegssepe ewcppmpers hltepsssgg
      181 clvtpsrret psptpsygqq statltpspp dppqpptdmp hlhqmprrvp lgpssplsvs
      241 qpmlgirear paglgagpaa sphlspspap stassapgrt wqgngemtpp lqgprarfrk
      301 kpkalpyrre nspgdlpppp lpppeeeasw alelraagsm sslerersge rkavqavpla
      361 aqrvlhpdee awlpysrpsf lsrgqgtstc stagsnssrg ssssrgsrgp grsrsrsqsr
      421 sqsqrpgqkr reepr
//
LOCUS       NP_001123654             397 aa            linear   PRI 12-FEB-2023
DEFINITION  dnaJ homolog subfamily A member 4 isoform 2 [Homo sapiens].
ACCESSION   NP_001123654
VERSION     NP_001123654.1
DBSOURCE    REFSEQ: accession NM_001130182.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 397)
  AUTHORS   Liu Z, Xie D, He X, Zhou T and Li W.
  TITLE     DNAJA4 Promotes the Replication of the Chinese Giant Salamander
            Iridovirus
  JOURNAL   Genes (Basel) 14 (1), 58 (2022)
   PUBMED   36672799
  REMARK    GeneRIF: DNAJA4 Promotes the Replication of the Chinese Giant
            Salamander Iridovirus.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 397)
  AUTHORS   Zhang H, Xue F, Zhao H, Chen L, Wang T and Wu X.
  TITLE     DNA methylation status of DNAJA4 is essential for human
            erythropoiesis
  JOURNAL   Epigenomics 14 (20), 1249-1267 (2022)
   PUBMED   36420716
  REMARK    GeneRIF: DNA methylation status of DNAJA4 is essential for human
            erythropoiesis.
REFERENCE   3  (residues 1 to 397)
  AUTHORS   Liu RJ, Niu XL, Yuan JP, Chen HD, Gao XH and Qi RQ.
  TITLE     DnaJA4 is involved in responses to hyperthermia by regulating the
            expression of F-actin in HaCaT cells
  JOURNAL   Chin Med J (Engl) 134 (4), 456-462 (2020)
   PUBMED   32925288
  REMARK    GeneRIF: DnaJA4 is involved in responses to hyperthermia by
            regulating the expression of F-actin in HaCaT cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 397)
  AUTHORS   Sun YZ, Ren Y, Zhang YJ, Han Y, Yang Y, Gao YL, Zhu LL, Qi RQ, Chen
            HD and Gao XH.
  TITLE     DNAJA4 deficiency enhances NF-kappa B-related growth arrest induced
            by hyperthermia in human keratinocytes
  JOURNAL   J Dermatol Sci 91 (3), 256-267 (2018)
   PUBMED   29807809
  REMARK    GeneRIF: Hyperthermia reduced HaCaT cell proliferation and promoted
            cytokine expressions responsible for anti-viral activity, mainly
            through a NF-kB dependent pathway. DNAJA4-deficiency enhanced the
            activation of NF-kB by hyperthermia in HaCaT cells.
REFERENCE   5  (residues 1 to 397)
  AUTHORS   Taipale M, Tucker G, Peng J, Krykbaeva I, Lin ZY, Larsen B, Choi H,
            Berger B, Gingras AC and Lindquist S.
  TITLE     A quantitative chaperone interaction network reveals the
            architecture of cellular protein homeostasis pathways
  JOURNAL   Cell 158 (2), 434-448 (2014)
   PUBMED   25036637
REFERENCE   6  (residues 1 to 397)
  AUTHORS   Pencheva N, Tran H, Buss C, Huh D, Drobnjak M, Busam K and Tavazoie
            SF.
  TITLE     Convergent multi-miRNA targeting of ApoE drives LRP1/LRP8-dependent
            melanoma metastasis and angiogenesis
  JOURNAL   Cell 151 (5), 1068-1082 (2012)
   PUBMED   23142051
REFERENCE   7  (residues 1 to 397)
  AUTHORS   Hageman J, van Waarde MA, Zylicz A, Walerych D and Kampinga HH.
  TITLE     The diverse members of the mammalian HSP70 machine show distinct
            chaperone-like activities
  JOURNAL   Biochem J 435 (1), 127-142 (2011)
   PUBMED   21231916
REFERENCE   8  (residues 1 to 397)
  AUTHORS   Ohtsuka K and Hata M.
  TITLE     Mammalian HSP40/DNAJ homologs: cloning of novel cDNAs and a
            proposal for their classification and nomenclature
  JOURNAL   Cell Stress Chaperones 5 (2), 98-112 (2000)
   PUBMED   11147971
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090607.6.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK096616.1, SRR11853567.10597.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394852.8/ ENSP00000378321.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..397
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.1"
     Protein         1..397
                     /product="dnaJ homolog subfamily A member 4 isoform 2"
                     /note="dnaJ homolog subfamily A member 4; DnaJ (Hsp40)
                     homolog, subfamily A, member 4"
                     /calculated_mol_wt=44667
     mat_peptide     1..394
                     /product="DnaJ homolog subfamily A member 4.
                     /id=PRO_0000071014"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WW22.1)"
                     /calculated_mol_wt=44498
     Region          2..394
                     /region_name="PTZ00037"
                     /note="DnaJ_C chaperone protein; Provisional"
                     /db_xref="CDD:240236"
     Site            18
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WW22.1)"
     Region          135..142
                     /region_name="CXXCXGXG motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WW22.1)"
     Region          151..158
                     /region_name="CXXCXGXG motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WW22.1)"
     Region          178..185
                     /region_name="CXXCXGXG motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WW22.1)"
     Region          194..201
                     /region_name="CXXCXGXG motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WW22.1)"
     Site            394
                     /site_type="methylation"
                     /note="Cysteine methyl ester. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q8WW22.1)"
     CDS             1..397
                     /gene="DNAJA4"
                     /gene_synonym="MST104; MSTP104; PRO1472"
                     /coded_by="NM_001130182.2:203..1396"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS45316.1"
                     /db_xref="GeneID:55466"
                     /db_xref="HGNC:HGNC:14885"
ORIGIN      
        1 mvketqyydi lgvkpsaspe eikkayrkla lkyhpdknpd egekfklisq ayevlsdpkk
       61 rdvydqggeq aikeggsgsp sfsspmdifd mffggggrma rerrgknvvh qlsvtledly
      121 ngvtkklalq knvicekceg vggkkgsvek cplckgrgmq ihiqqigpgm vqqiqtvcie
      181 ckgqgerinp kdrcescsga kvirekkiie vhvekgmkdg qkilfhgegd qepelepgdv
      241 iivldqkdhs vfqrrghdli mkmkiqlsea lcgfkktikt ldnrilvits kagevikhgd
      301 lrcvrdegmp iykaplekgi liiqflvifp ekhwlslekl pqleallppr qkvritddmd
      361 qvelkefcpn eqnwrqhrea yeededgpqa gvqcqta
//
LOCUS       NP_002754                737 aa            linear   PRI 26-FEB-2023
DEFINITION  prospero homeobox protein 1 [Homo sapiens].
ACCESSION   NP_002754
VERSION     NP_002754.2
DBSOURCE    REFSEQ: accession NM_002763.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 737)
  AUTHORS   Yao W, Jia X, Zhu L, Xu L, Zhang Q, Xia T and Wei L.
  TITLE     Exosomal circ_0026611 contributes to lymphangiogenesis by reducing
            PROX1 acetylation and ubiquitination in human lymphatic endothelial
            cells (HLECs)
  JOURNAL   Cell Mol Biol Lett 28 (1), 13 (2023)
   PUBMED   36803975
  REMARK    GeneRIF: Exosomal circ_0026611 contributes to lymphangiogenesis by
            reducing PROX1 acetylation and ubiquitination in human lymphatic
            endothelial cells (HLECs).
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 737)
  AUTHORS   Wang Y, Luo M, Wang F, Tong Y, Li L, Shu Y, Qiao K, Zhang L, Yan G,
            Liu J, Ji H, Xie Y, Zhang Y, Gao WQ and Liu Y.
  TITLE     AMPK induces degradation of the transcriptional repressor PROX1
            impairing branched amino acid metabolism and tumourigenesis
  JOURNAL   Nat Commun 13 (1), 7215 (2022)
   PUBMED   36433955
  REMARK    GeneRIF: AMPK induces degradation of the transcriptional repressor
            PROX1 impairing branched amino acid metabolism and tumourigenesis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 737)
  AUTHORS   Qian Y, Cheng B, Luo J, Hu Y, Gao L and Cheng H.
  TITLE     CircRFX3 Up-regulates Its Host Gene RFX3 to Facilitate
            Tumorigenesis and Progression of Glioma
  JOURNAL   J Mol Neurosci 72 (6), 1195-1207 (2022)
   PUBMED   35416616
  REMARK    GeneRIF: CircRFX3 Up-regulates Its Host Gene RFX3 to Facilitate
            Tumorigenesis and Progression of Glioma.
REFERENCE   4  (residues 1 to 737)
  AUTHORS   Zhu L, Tian Q, Gao H, Wu K, Wang B, Ge G, Jiang S, Wang K, Zhou C,
            He J, Liu P, Ren Y and Wang B.
  TITLE     PROX1 promotes breast cancer invasion and metastasis through
            WNT/beta-catenin pathway via interacting with hnRNPK
  JOURNAL   Int J Biol Sci 18 (5), 2032-2046 (2022)
   PUBMED   35342346
  REMARK    GeneRIF: PROX1 promotes breast cancer invasion and metastasis
            through WNT/beta-catenin pathway via interacting with hnRNPK.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 737)
  AUTHORS   Elsir T, Smits A, Lindstrom MS and Nister M.
  TITLE     Transcription factor PROX1: its role in development and cancer
  JOURNAL   Cancer Metastasis Rev 31 (3-4), 793-805 (2012)
   PUBMED   22733308
  REMARK    Review article
REFERENCE   6  (residues 1 to 737)
  AUTHORS   Wilting J, Papoutsi M, Christ B, Nicolaides KH, von Kaisenberg CS,
            Borges J, Stark GB, Alitalo K, Tomarev SI, Niemeyer C and Rossler
            J.
  TITLE     The transcription factor Prox1 is a marker for lymphatic
            endothelial cells in normal and diseased human tissues
  JOURNAL   FASEB J 16 (10), 1271-1273 (2002)
   PUBMED   12060670
REFERENCE   7  (residues 1 to 737)
  AUTHORS   Chen Q, Dowhan DH, Liang D, Moore DD and Overbeek PA.
  TITLE     CREB-binding protein/p300 co-activation of crystallin gene
            expression
  JOURNAL   J Biol Chem 277 (27), 24081-24089 (2002)
   PUBMED   11943779
REFERENCE   8  (residues 1 to 737)
  AUTHORS   Duncan MK, Cui W, Oh DJ and Tomarev SI.
  TITLE     Prox1 is differentially localized during lens development
  JOURNAL   Mech Dev 112 (1-2), 195-198 (2002)
   PUBMED   11850194
  REMARK    GeneRIF: Prox1 is differentially localized during lens development
REFERENCE   9  (residues 1 to 737)
  AUTHORS   Mouta Carreira C, Nasser SM, di Tomaso E, Padera TP, Boucher Y,
            Tomarev SI and Jain RK.
  TITLE     LYVE-1 is not restricted to the lymph vessels: expression in normal
            liver blood sinusoids and down-regulation in human liver cancer and
            cirrhosis
  JOURNAL   Cancer Res 61 (22), 8079-8084 (2001)
   PUBMED   11719431
  REMARK    GeneRIF: Prox 1 is expressed in both quiescent and proliferating
            lymphatic endothelial cells in the liver. Unlike the putative
            lymphatic marker LYVE-1, Prox 1 is not expressed in liver
            sinusoidal endothelial cells.
            GeneRIF: Prox 1 is expressed in both quiescent and proliferating
            lymphatic endothelial cells in the adult human and mouse liver.
            Unlike the putative lymphatic marker LYVE-1, Prox 1 is not
            expressed in liver sinusoidal endothelial cells.
REFERENCE   10 (residues 1 to 737)
  AUTHORS   Zinovieva RD, Duncan MK, Johnson TR, Torres R, Polymeropoulos MH
            and Tomarev SI.
  TITLE     Structure and chromosomal localization of the human homeobox gene
            Prox 1
  JOURNAL   Genomics 35 (3), 517-522 (1996)
   PUBMED   8812486
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC024201.2 and AL606537.10.
            On Jun 9, 2002 this sequence version replaced NP_002754.1.
            
            Summary: The protein encoded by this gene is a member of the
            homeobox transcription factor family. Members of this family
            contain a homeobox domain that consists of a 60-amino acid
            helix-turn-helix structure that binds DNA and RNA. The protein
            encoded by this gene is conserved across vertebrates and may play
            an essential role during development. Altered levels of this
            protein have been reported in cancers of different organs, such as
            colon, brain, blood, breast, pancreas, liver and esophagus.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2012].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC024201.2, SRR1803612.98398.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..737
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.3"
     Protein         1..737
                     /product="prospero homeobox protein 1"
                     /note="prospero-related homeobox 1; homeobox prospero-like
                     protein PROX1"
                     /calculated_mol_wt=83073
     Region          1..28
                     /region_name="Interaction with RORG.
                     /evidence=ECO:0000250|UniProtKB:P48437"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92786.2)"
     Region          103..149
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92786.2)"
     Site            177
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92786.2)"
     Region          178..242
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92786.2)"
     Site            179
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48437; propagated from
                     UniProtKB/Swiss-Prot (Q92786.2)"
     Site            199
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92786.2)"
     Site            291
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48437; propagated from
                     UniProtKB/Swiss-Prot (Q92786.2)"
     Site            295
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92786.2)"
     Region          320..344
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92786.2)"
     Region          445..476
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92786.2)"
     Site            511
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48437; propagated from
                     UniProtKB/Swiss-Prot (Q92786.2)"
     Site            514
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48437; propagated from
                     UniProtKB/Swiss-Prot (Q92786.2)"
     Site            557
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92786.2)"
     Region          577..735
                     /region_name="Homeo-Prospero.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01162"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92786.2)"
     Region          579..732
                     /region_name="HPD"
                     /note="Homeo-prospero domain; pfam05044"
                     /db_xref="CDD:428277"
     Region          723..729
                     /region_name="Essential for nuclear localization,
                     interaction with RORG, repression of RORG transcriptional
                     activator activity.
                     /evidence=ECO:0000250|UniProtKB:P48437"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92786.2)"
     CDS             1..737
                     /gene="PROX1"
                     /coded_by="NM_002763.5:257..2470"
                     /db_xref="CCDS:CCDS31021.1"
                     /db_xref="GeneID:5629"
                     /db_xref="HGNC:HGNC:9459"
                     /db_xref="MIM:601546"
ORIGIN      
        1 mpdhdstall srqtkrrrvd igvkrtvgta saffakarat ffsamnpqgs eqdveysvvq
       61 hadgeksnvl rkllkransy edammpfpga tiisqllknn mnknggteps fqasglsstg
      121 sevhqedics nssrdsppec lspfgrptms qfdmdrlcde hlrakrarve niirgmshsp
      181 svalrgnene remapqsvsp resyrenkrk qklpqqqqqs fqqlvsarke qkreerrqlk
      241 qqledmqkql rqlqekfyqi ydstdsende dgnlsedsmr seildaraqd svgrsdnemc
      301 eldpgqfidr aralireqem aenkpkregn nkerdhgpns lqpegkhlae tlkqelntam
      361 sqvvdtvvkv fsakpsrqvp qvfpplqipq arfavngenh nfhtanqrlq cfgdviipnp
      421 ldtfgnvqma sstdqtealp lvvrknssdq sasgpaaggh hqplhqspls attgfttstf
      481 rhpfplplma ypfqsplgap sgsfsgkdra spesldltrd ttslrtkmss hhlshhpcsp
      541 ahppstaegl slsliksecg dlqdmseisp ysgsamqegl spnhlkkakl mffytrypss
      601 nmlktyfsdv kfnrcitsql ikwfsnfref yyiqmekyar qaindgvtst eelsitrdce
      661 lyralnmhyn kandfevper flevaqitlr effnaiiagk dvdpswkkai ykvickldse
      721 vpeifkspnc lqellhe
//
LOCUS       NP_060888                599 aa            linear   PRI 12-MAR-2023
DEFINITION  spermatogenesis-associated protein 7 isoform 1 [Homo sapiens].
ACCESSION   NP_060888
VERSION     NP_060888.2
DBSOURCE    REFSEQ: accession NM_018418.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 599)
  AUTHORS   Xiao X, Sun W, Li S, Jia X and Zhang Q.
  TITLE     Spectrum, frequency, and genotype-phenotype of mutations in SPATA7
  JOURNAL   Mol Vis 25, 821-833 (2019)
   PUBMED   31908400
  REMARK    GeneRIF: Narrow arterioles, a relatively well-preserved macular
            region, and widespread retinal pigment epithelium atrophy resulting
            in diffuse mottling hypopigmentation in the midperipheral retina
            may be considered early and common fundus changes specific to
            SPATA7-associated retinopathy.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 599)
  AUTHORS   Sengillo JD, Lee W, Bilancia CG, Jobanputra V and Tsang SH.
  TITLE     Phenotypic expansion and progression of SPATA7-associated retinitis
            pigmentosa
  JOURNAL   Doc Ophthalmol 136 (2), 125-133 (2018)
   PUBMED   29411205
  REMARK    GeneRIF: Compound heterozygous c.1100A > G, p.(Y367C) and
            c.1102_1103delCT, p.(L368Efs*4) variants in SPATA7 manifest as an
            unusual RP phenotype in this case, showing extensive choroidal
            sclerosis and retinal pigment epithelium (RPE) atrophy with
            evidence of progression over two years on multimodal imaging.
REFERENCE   3  (residues 1 to 599)
  AUTHORS   Feldhaus B, Kohl S, Hortnagel K, Weisschuh N and Zobor D.
  TITLE     Novel homozygous mutation in the SPATA7 gene causes autosomal
            recessive retinal degeneration in a consanguineous German family
  JOURNAL   Ophthalmic Genet 39 (1), 131-134 (2018)
   PUBMED   28481129
  REMARK    GeneRIF: We present the clinical and genetic findings of two
            siblings harboring the c.1112T>C/p.I371T homozygous mutation in the
            SPATA7 gene.
REFERENCE   4  (residues 1 to 599)
  AUTHORS   Matsui R, McGuigan Iii DB, Gruzensky ML, Aleman TS, Schwartz SB,
            Sumaroka A, Koenekoop RK, Cideciyan AV and Jacobson SG.
  TITLE     SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis
            pigmentosa
  JOURNAL   Ophthalmic Genet 37 (3), 333-338 (2016)
   PUBMED   26854980
  REMARK    GeneRIF: The disease resulting from SPATA7 mutations in this
            patient initially presented as a cone-rod dystrophy (CRD), but
            changed over time into a phenotype more reminiscent of late-stage
            retinitis pigmentosa (RP).
REFERENCE   5  (residues 1 to 599)
  AUTHORS   Zhang X, Liu H, Zhang Y, Qiao Y, Miao S, Wang L, Zhang J, Zong S
            and Koide SS.
  TITLE     A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein
            expressed in rat and human testis
  JOURNAL   J Mol Med (Berl) 81 (6), 380-387 (2003)
   PUBMED   12736779
  REMARK    GeneRIF: isolation and characterization of HSD-3.1 expressed in the
            testis
REFERENCE   6  (residues 1 to 599)
  AUTHORS   Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C,
            Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A,
            Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H,
            Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon
            O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere
            F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R,
            Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A,
            Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S,
            Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C,
            Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S,
            Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C,
            Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P,
            Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois
            M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V,
            Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J,
            Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F,
            Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F,
            Waterston R, Hood L and Weissenbach J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
REFERENCE   7  (residues 1 to 599)
  AUTHORS   Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL
            and Lupski JR.
  TITLE     A novel locus for Leber congenital amaurosis on chromosome 14q24
  JOURNAL   Hum Genet 103 (3), 328-333 (1998)
   PUBMED   9799089
REFERENCE   8  (residues 1 to 599)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   9  (residues 1 to 599)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   10 (residues 1 to 599)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301475
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049834.3.
            This sequence is a reference standard in the RefSeqGene project.
            On May 4, 2006 this sequence version replaced NP_060888.1.
            
            Summary: This gene, originally isolated from testis, is also
            expressed in retina. Mutations in this gene are associated with
            Leber congenital amaurosis and juvenile retinitis pigmentosa.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, May
            2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EU668353.1, SRR1803616.256978.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393545.9/ ENSP00000377176.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..599
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q31.3"
     Protein         1..599
                     /product="spermatogenesis-associated protein 7 isoform 1"
                     /note="spermatogenesis-associated protein HSD3; epididymis
                     secretory protein Li 296; epididymis secretory sperm
                     binding protein"
                     /calculated_mol_wt=67588
     Region          9..420
                     /region_name="HSD3"
                     /note="Spermatogenesis-associated protein 7, or HSD3;
                     pfam15244"
                     /db_xref="CDD:434566"
     Region          163..205
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0W8.3)"
     CDS             1..599
                     /gene="SPATA7"
                     /gene_synonym="HEL-S-296; HSD-3.1; HSD3; LCA3; RP94"
                     /coded_by="NM_018418.5:163..1962"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9883.1"
                     /db_xref="GeneID:55812"
                     /db_xref="HGNC:HGNC:20423"
                     /db_xref="MIM:609868"
ORIGIN      
        1 mdgsrrvrat svlprygppc lfkghlstks nafctdsssl rlstlqlvkn hmavhynkil
       61 sakaavdcsv pvsvstsiky adqqrreklk kelaqcekef kltktamran yknnskslfn
      121 tlqkpsgepq ieddmlkeem ngfssfarsl vpsserlhls lhksskvitn gpeknssssp
      181 ssvdyaasgp rklssgalyg rrprstfpns hrfqlviska psgdlldkhs elfsnkqlpf
      241 tprtlkteak sflsqyryyt pakrkkdftd qrieaetqte lsfkselgta etknmtdsem
      301 nikqasncvt ydakekiapl pleghdstwd eikddalqhs spramcqysl kppstrkiys
      361 deeellylsf iedvtdeilk lglfsnrfle rlferhikqn khleeekmrh llhvlkvdlg
      421 ctseensvkq ndvdmlnvfd fekagnsepn elknesevti qqerqqyqka ldmllsapkd
      481 eneifpspte ffmpiykskh segviiqqvn detnletstl denhpsisds ltdretsvnv
      541 iegdsdpekv eisnglcgln tspsqsvqfs svkgdnnhdm elstlkimem siedcpldv
//
LOCUS       NP_062559                344 aa            linear   PRI 12-MAR-2023
DEFINITION  WD repeat domain phosphoinositide-interacting protein 3 [Homo
            sapiens].
ACCESSION   NP_062559
VERSION     NP_062559.2
DBSOURCE    REFSEQ: accession NM_019613.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 344)
  AUTHORS   Zhang J, Lu Y, Tian X, Men X, Zhang Y, Yan H, Yang F, Yang Z and
            Wang X.
  TITLE     A homozygous variant of WDR45B results in global developmental
            delay: Additional case and literature review
  JOURNAL   Mol Genet Genomic Med 10 (10), e2036 (2022)
   PUBMED   35962600
  REMARK    GeneRIF: A homozygous variant of WDR45B results in global
            developmental delay: Additional case and literature review.
            Review article
REFERENCE   2  (residues 1 to 344)
  AUTHORS   Cattin-Ortola J, Welch LG, Maslen SL, Papa G, James LC and Munro S.
  TITLE     Sequences in the cytoplasmic tail of SARS-CoV-2 Spike facilitate
            expression at the cell surface and syncytia formation
  JOURNAL   Nat Commun 12 (1), 5333 (2021)
   PUBMED   34504087
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 344)
  AUTHORS   Ji C, Zhao H, Chen D, Zhang H and Zhao YG.
  TITLE     beta-propeller proteins WDR45 and WDR45B regulate autophagosome
            maturation into autolysosomes in neural cells
  JOURNAL   Curr Biol 31 (8), 1666-1677 (2021)
   PUBMED   33636118
REFERENCE   4  (residues 1 to 344)
  AUTHORS   Ren J, Liang R, Wang W, Zhang D, Yu L and Feng W.
  TITLE     Multi-site-mediated entwining of the linear WIR-motif around WIPI
            beta-propellers for autophagy
  JOURNAL   Nat Commun 11 (1), 2702 (2020)
   PUBMED   32483132
  REMARK    GeneRIF: Multi-site-mediated entwining of the linear WIR-motif
            around WIPI beta-propellers for autophagy.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 344)
  AUTHORS   Suleiman J, Allingham-Hawkins D, Hashem M, Shamseldin HE, Alkuraya
            FS and El-Hattab AW.
  TITLE     WDR45B-related intellectual disability, spastic quadriplegia,
            epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental
            syndrome
  JOURNAL   Clin Genet 93 (2), 360-364 (2018)
   PUBMED   28503735
  REMARK    GeneRIF: WDR45B has been identified as a potential intellectual
            disability gene through genomic sequencing of 2 large cohorts of
            affected individuals. In this report we present 6 individuals from
            3 unrelated families with homozygous pathogenic variants in WDR45B:
            c.799C>T (p.Q267*) in 1 family and c.673C>T (p.R225*) in 2 families
REFERENCE   6  (residues 1 to 344)
  AUTHORS   Bakula D, Muller AJ, Zuleger T, Takacs Z, Franz-Wachtel M, Thost
            AK, Brigger D, Tschan MP, Frickey T, Robenek H, Macek B and
            Proikas-Cezanne T.
  TITLE     WIPI3 and WIPI4 beta-propellers are scaffolds for LKB1-AMPK-TSC
            signalling circuits in the control of autophagy
  JOURNAL   Nat Commun 8, 15637 (2017)
   PUBMED   28561066
  REMARK    GeneRIF: WIPI3 and WIPI4 beta-propellers have roles as scaffolds
            for LKB1-AMPK-TSC signalling circuits in the control of autophagy
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 344)
  AUTHORS   Proikas-Cezanne T, Waddell S, Gaugel A, Frickey T, Lupas A and
            Nordheim A.
  TITLE     WIPI-1alpha (WIPI49), a member of the novel 7-bladed WIPI protein
            family, is aberrantly expressed in human cancer and is linked to
            starvation-induced autophagy
  JOURNAL   Oncogene 23 (58), 9314-9325 (2004)
   PUBMED   15602573
REFERENCE   8  (residues 1 to 344)
  AUTHORS   Jeffries TR, Dove SK, Michell RH and Parker PJ.
  TITLE     PtdIns-specific MPR pathway association of a novel WD40 repeat
            protein, WIPI49
  JOURNAL   Mol Biol Cell 15 (6), 2652-2663 (2004)
   PUBMED   15020712
REFERENCE   9  (residues 1 to 344)
  AUTHORS   Almannai,M., Marafi,D. and El-Hattab,A.W.
  TITLE     El-Hattab-Alkuraya Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36173873
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN262716.1, AM182326.1,
            AC124283.11 and AA861045.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 18, 2007 this sequence version replaced NP_062559.1.
            
            Summary: This gene encodes a member of the WIPI or SVP1 family of
            WD40 repeat-containing proteins. The protein contains seven WD40
            repeats that are thought to fold into a beta-propeller structure
            that mediates protein-protein interactions, and a conserved motif
            for interaction with phospholipids. The human genome contains
            several pseudogenes of this gene. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.317976.1,
                                           SRR3476690.253402.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392325.9/ ENSP00000376139.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..344
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..344
                     /product="WD repeat domain phosphoinositide-interacting
                     protein 3"
                     /note="WIPI49-like protein; WD repeat protein 45-like;
                     WDR45-like protein; WD repeat-containing protein 45-like;
                     WD repeat-containing protein 45B; WIPI3 long"
                     /calculated_mol_wt=37991
     Region          2..38
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MNZ6.2)"
     Region          <25..258
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(26,30,36..37,55..56,69,74,85..86,99,115,117,123,127,
                     130,148,163,169..170,183..184,201,206,213..214,227..228,
                     247,251,257..258)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          44..87
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MNZ6.2)"
     Region          93..125
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MNZ6.2)"
     Region          102..126
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          130..171
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MNZ6.2)"
     Region          145..183
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          176..215
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MNZ6.2)"
     Region          188..225
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          220..259
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MNZ6.2)"
     Region          224..227
                     /region_name="L/FRRG motif.
                     /evidence=ECO:0000250|UniProtKB:Q9Y4P8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MNZ6.2)"
     Region          234..267
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          265..314
                     /region_name="WD 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MNZ6.2)"
     CDS             1..344
                     /gene="WDR45B"
                     /gene_synonym="NEDSBAS; WDR45L; WIPI-3; WIPI3"
                     /coded_by="NM_019613.4:105..1139"
                     /db_xref="CCDS:CCDS11815.2"
                     /db_xref="GeneID:56270"
                     /db_xref="HGNC:HGNC:25072"
                     /db_xref="MIM:609226"
ORIGIN      
        1 mnllpcnphg ngllyagfnq dhgcfacgme ngfrvyntdp lkekekqefl eggvghveml
       61 frcnylalvg ggkkpkyppn kvmiwddlkk ktvieiefst evkavklrrd rivvvldsmi
      121 kvftfthnph qlhvfetcyn pkglcvlcpn snnsllafpg thtghvqlvd lastekppvd
      181 ipahegvlsc ialnlqgtri atasekgtli rifdtssghl iqelrrgsqa aniycinfnq
      241 daslicvssd hgtvhifaae dpkrnkqssl asasflpkyf sskwsfskfq vpsgspcica
      301 fgtepnavia icadgsyykf lfnpkgecir dvyaqflemt ddkl
//
LOCUS       NP_775931                504 aa            linear   PRI 12-MAR-2023
DEFINITION  protein Dok-7 isoform 1 [Homo sapiens].
ACCESSION   NP_775931
VERSION     NP_775931.3
DBSOURCE    REFSEQ: accession NM_173660.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 504)
  AUTHORS   Gowdini E, Aleyasin SA, Ramezani N, Nafisi N and Tutuni M.
  TITLE     DOK7 CpG hypermethylation in blood leukocytes as an epigenetic
            biomarker for acquired tamoxifen resistant in breast cancer
  JOURNAL   J Hum Genet 68 (1), 33-38 (2023)
   PUBMED   36372800
  REMARK    GeneRIF: DOK7 CpG hypermethylation in blood leukocytes as an
            epigenetic biomarker for acquired tamoxifen resistant in breast
            cancer.
REFERENCE   2  (residues 1 to 504)
  AUTHORS   Oh SJ, King PH and Schindler A.
  TITLE     Life-Long Steroid Responsive Familial Myopathy With Docking Protein
            7 Mutation
  JOURNAL   J Clin Neuromuscul Dis 24 (2), 80-84 (2022)
   PUBMED   36409338
  REMARK    GeneRIF: Life-Long Steroid Responsive Familial Myopathy With
            Docking Protein 7 Mutation.
REFERENCE   3  (residues 1 to 504)
  AUTHORS   Bao Y, Yu Y, Hong B, Lin Z, Qi G, Zhou J, Liu K and Zhang X.
  TITLE     Hsa_Circ_0001947/MiR-661/DOK7 Axis Restrains Non-Small Cell Lung
            Cancer Development
  JOURNAL   J Microbiol Biotechnol 31 (11), 1508-1518 (2021)
   PUBMED   34528912
  REMARK    GeneRIF: Hsa_Circ_0001947/MiR-661/DOK7 Axis Restrains Non-Small
            Cell Lung Cancer Development.
REFERENCE   4  (residues 1 to 504)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 504)
  AUTHORS   Bergamin E, Hallock PT, Burden SJ and Hubbard SR.
  TITLE     The cytoplasmic adaptor protein Dok7 activates the receptor
            tyrosine kinase MuSK via dimerization
  JOURNAL   Mol Cell 39 (1), 100-109 (2010)
   PUBMED   20603078
  REMARK    GeneRIF: The crystal structure of the Dok7 PH-PTB domains in
            complex with a phosphopeptide representing the Dok7-binding site on
            MuSK, is presented.
REFERENCE   6  (residues 1 to 504)
  AUTHORS   Palace J, Lashley D, Newsom-Davis J, Cossins J, Maxwell S, Kennett
            R, Jayawant S, Yamanashi Y and Beeson D.
  TITLE     Clinical features of the DOK7 neuromuscular junction synaptopathy
  JOURNAL   Brain 130 (Pt 6), 1507-1515 (2007)
   PUBMED   17452375
REFERENCE   7  (residues 1 to 504)
  AUTHORS   Muller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL,
            Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C,
            Dias A, Soudo A, Hietala M, Aarimaa T, Krahe R, Karcagi V, Huebner
            A, Beeson D, Abicht A and Lochmuller H.
  TITLE     Phenotypical spectrum of DOK7 mutations in congenital myasthenic
            syndromes
  JOURNAL   Brain 130 (Pt 6), 1497-1506 (2007)
   PUBMED   17439981
  REMARK    GeneRIF: study of patients with congenital myasthenic syndromes
            with mutations in DOK7; none with DOK7 mutations had tubular
            aggregates in muscle biopsy, implying 'limb-girdle myasthenia with
            tubular aggregates' may be distinct from CMS caused by DOK7
            mutations
REFERENCE   8  (residues 1 to 504)
  AUTHORS   Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S,
            Newsom-Davis J, Burke G, Fawcett P, Motomura M, Muller JS,
            Lochmuller H, Slater C, Vincent A and Yamanashi Y.
  TITLE     Dok-7 mutations underlie a neuromuscular junction synaptopathy
  JOURNAL   Science 313 (5795), 1975-1978 (2006)
   PUBMED   16917026
  REMARK    GeneRIF: findings showed that recessive inheritance of mutations in
            Dok-7, which result in a defective structure of the neuromuscular
            junction, is a cause of congenital myasthenic syndromes with
            proximal muscle weakness
REFERENCE   9  (residues 1 to 504)
  AUTHORS   Okada K, Inoue A, Okada M, Murata Y, Kakuta S, Jigami T, Kubo S,
            Shiraishi H, Eguchi K, Motomura M, Akiyama T, Iwakura Y, Higuchi O
            and Yamanashi Y.
  TITLE     The muscle protein Dok-7 is essential for neuromuscular
            synaptogenesis
  JOURNAL   Science 312 (5781), 1802-1805 (2006)
   PUBMED   16794080
  REMARK    GeneRIF: Dok-7 is essential for neuromuscular synaptogenesis
            through its interaction with MuSK
REFERENCE   10 (residues 1 to 504)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA205628.1, BC141852.1,
            AK091037.1 and BM684814.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 5, 2006 this sequence version replaced NP_775931.2.
            
            Summary: The protein encoded by this gene is essential for
            neuromuscular synaptogenesis. The protein functions in aneural
            activation of muscle-specific receptor kinase, which is required
            for postsynaptic differentiation, and in the subsequent clustering
            of the acetylcholine receptor in myotubes. This protein can also
            induce autophosphorylation of muscle-specific receptor kinase.
            Mutations in this gene are a cause of familial limb-girdle
            myasthenia autosomal recessive, which is also known as congenital
            myasthenic syndrome type 1B. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) differs in the 3' UTR and
            coding sequence compared to variant 4. The resulting isoform (1)
            has a shorter and distinct C-terminus compared to isoform 4.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.875683.1, BC141852.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000340083.6/ ENSP00000344432.5
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..504
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     Protein         1..504
                     /product="protein Dok-7 isoform 1"
                     /note="protein Dok-7; downstream of tyrosine kinase 7"
                     /calculated_mol_wt=52966
     Region          6..107
                     /region_name="PH_DOK7"
                     /note="Pleckstrin homology (PH) domain of Downstream of
                     tyrosine kinase 7; cd14677"
                     /db_xref="CDD:270196"
     Region          108..208
                     /region_name="PTB_DOK7"
                     /note="Downstream of tyrosine kinase 7
                     phosphotyrosine-binding domain (PTBi); cd13165"
                     /db_xref="CDD:269986"
     Site            order(157..162,168,172..173,183,196)
                     /site_type="other"
                     /note="putative phosphopeptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269986"
     Region          210..229
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q18PE1.1)"
     Region          249..351
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q18PE1.1)"
     Region          411..483
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q18PE1.1)"
     CDS             1..504
                     /gene="DOK7"
                     /gene_synonym="C4orf25; CMS10; CMS1B; FADS3"
                     /coded_by="NM_173660.5:71..1585"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS3370.2"
                     /db_xref="GeneID:285489"
                     /db_xref="HGNC:HGNC:26594"
                     /db_xref="MIM:610285"
ORIGIN      
        1 mteaalvegq vklrdgkkwk srwlvlrkps pvadcllmlv ykdkserikg lrerssltle
       61 dicglepglp yeglvhtlai vclsqaimlg fdsheamcaw dariryalge vhrfhvtvap
      121 gtklesgpat lhlcndvlvl ardippavtg qwklsdlrry gavpsgfife ggtrcgywag
      181 vfflssaege qisflfdciv rgisptkgpf glrpvlpdps ppgpstveer vaqealetlq
      241 lekrlsllsh agrpgsggdd rslsssssea shldvsassr ltawpeqsss sastsqegpr
      301 paaaqaagea mvgasrpppk plrprqlqev grqsssdsgi atgshssyss slssyagssl
      361 dvwratdelg sllslpaaga pepslctclp gtveyqvpts lrahydtprs lclaprdhsp
      421 psqgspgnsa ardsggqtsa gcpsgwlgtr rrglvmeapq gseatlpgpa pgepweaggp
      481 hagpppaffs acpvcgglkv nppp
//
LOCUS       NP_055020                403 aa            linear   PRI 13-MAR-2023
DEFINITION  zinc finger HIT domain-containing protein 2 [Homo sapiens].
ACCESSION   NP_055020
VERSION     NP_055020.1
DBSOURCE    REFSEQ: accession NM_014205.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 403)
  AUTHORS   Klimesova K, Vojackova J, Radivojevic N, Vandermoere F, Bertrand E,
            Verheggen C and Stanek D.
  TITLE     TSSC4 is a component of U5 snRNP that promotes tri-snRNP formation
  JOURNAL   Nat Commun 12 (1), 3646 (2021)
   PUBMED   34131137
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 403)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 403)
  AUTHORS   Cloutier P, Poitras C, Durand M, Hekmat O, Fiola-Masson E, Bouchard
            A, Faubert D, Chabot B and Coulombe B.
  TITLE     R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with
            ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein
  JOURNAL   Nat Commun 8, 15615 (2017)
   PUBMED   28561026
  REMARK    GeneRIF: The interaction between RUVBL1/RUVBL2 and the U5 small
            nuclear ribonucleoprotein is mostly mediated by the previously
            uncharacterized factor ZNHIT2.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 403)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 403)
  AUTHORS   He F, Umehara T, Tsuda K, Inoue M, Kigawa T, Matsuda T, Yabuki T,
            Aoki M, Seki E, Terada T, Shirouzu M, Tanaka A, Sugano S, Muto Y
            and Yokoyama S.
  TITLE     Solution structure of the zinc finger HIT domain in protein FON
  JOURNAL   Protein Sci 16 (8), 1577-1587 (2007)
   PUBMED   17656577
  REMARK    GeneRIF: The unique three-dimensional structure of the zinc finger
            HIT domain revealed a novel zinc-binding fold, as a new member of
            the treble clef domain family
REFERENCE   6  (residues 1 to 403)
  AUTHORS   O'Brien KP, Tapia-Paez I, Stahle-Backdahl M, Kedra D and Dumanski
            JP.
  TITLE     Characterization of five novel human genes in the 11q13-q22 region
  JOURNAL   Biochem Biophys Res Commun 273 (1), 90-94 (2000)
   PUBMED   10873569
REFERENCE   7  (residues 1 to 403)
  AUTHORS   Lemmens IH, Farnebo F, Piehl F, Merregaert J, Van de Ven WJ,
            Larsson C and Kas K.
  TITLE     Molecular characterization of human and murine C11orf5, a new
            member of the FAUNA gene cluster
  JOURNAL   Mamm Genome 11 (1), 78-80 (2000)
   PUBMED   10602999
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC052240.1 and HY200798.1.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC052240.1, AK223358.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310597.6/ ENSP00000308548.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..403
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     Protein         1..403
                     /product="zinc finger HIT domain-containing protein 2"
                     /note="zinc finger, HIT domain containing 2; zinc finger,
                     HIT type 2"
                     /calculated_mol_wt=42753
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9UHR6.1)"
     Region          3..36
                     /region_name="zf-HIT"
                     /note="HIT zinc finger; pfam04438"
                     /db_xref="CDD:398237"
     Region          72..98
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHR6.1)"
     Site            161
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UHR6.1)"
     CDS             1..403
                     /gene="ZNHIT2"
                     /gene_synonym="C11orf5; FON"
                     /coded_by="NM_014205.4:49..1260"
                     /db_xref="CCDS:CCDS8094.1"
                     /db_xref="GeneID:741"
                     /db_xref="HGNC:HGNC:1177"
                     /db_xref="MIM:604575"
ORIGIN      
        1 mepagpcgfc pagevqpary tcprcnapyc slrcyrthgt caenfyrdqv lgelrgcsap
       61 psrlasalrr lrqqretede pgeaglssgp apgglsglwe rlapgekaaf erllsrgeag
      121 rllppwrpww wnrgagpqll eeldnapgsd aaelelapar tppdsvkdas aaepaaaerv
      181 lgdvpgactp vvptripaiv slsrgpvspl vrfqlpnvlf ayahtlalyh ggddallsdf
      241 catllgvsga lgaqqvfasa eealqaaahv leagehppgp lgtrgamhev arillgegpt
      301 nqkgytlaal gdlaqtlgra rkqavareer dhlyrarkkc qfllawtnen eaaltplald
      361 carahqahav vaeevaaltg elerlwggpv ppaprtliee lps
//
LOCUS       NP_001136175             704 aa            linear   PRI 15-MAR-2023
DEFINITION  serine protease FAM111B isoform b [Homo sapiens].
ACCESSION   NP_001136175
VERSION     NP_001136175.1
DBSOURCE    REFSEQ: accession NM_001142703.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 704)
  AUTHORS   Rhoda C, Sunda F, Kidzeru E, Khumalo NP and Arowolo A.
  TITLE     FAM111B dysregulation promotes malignancy in fibrosarcoma and
            POIKTMP and a low-cost method for its mutation screening
  JOURNAL   Cancer Treat Res Commun 34, 100679 (2023)
   PUBMED   36610347
  REMARK    GeneRIF: FAM111B dysregulation promotes malignancy in fibrosarcoma
            and POIKTMP and a low-cost method for its mutation screening.
REFERENCE   2  (residues 1 to 704)
  AUTHORS   Gong Q, Dong Q, Zhong B, Zhang T, Cao D, Zhang Y, Ma D, Cai X and
            Li Z.
  TITLE     Clinicopathological features, prognostic significance, and
            associated tumor cell functions of family with sequence similarity
            111 member B in pancreatic adenocarcinoma
  JOURNAL   J Clin Lab Anal 36 (12), e24784 (2022)
   PUBMED   36408702
  REMARK    GeneRIF: Clinicopathological features, prognostic significance, and
            associated tumor cell functions of family with sequence similarity
            111 member B in pancreatic adenocarcinoma.
REFERENCE   3  (residues 1 to 704)
  AUTHORS   Zhu X, Xue C, Kang X, Jia X, Wang L, Younis MH, Liu D, Huo N, Han
            Y, Chen Z, Fu J, Zhou C, Yao X, Du Y, Cai W, Kang L and Lyu Z.
  TITLE     DNMT3B-mediated FAM111B methylation promotes papillary thyroid
            tumor glycolysis, growth and metastasis
  JOURNAL   Int J Biol Sci 18 (11), 4372-4387 (2022)
   PUBMED   35864964
  REMARK    GeneRIF: DNMT3B-mediated FAM111B methylation promotes papillary
            thyroid tumor glycolysis, growth and metastasis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 704)
  AUTHORS   Li W, Hu S, Han Z and Jiang X.
  TITLE     YY1-Induced Transcriptional Activation of FAM111B Contributes to
            the Malignancy of Breast Cancer
  JOURNAL   Clin Breast Cancer 22 (4), e417-e425 (2022)
   PUBMED   34802969
  REMARK    GeneRIF: YY1-Induced Transcriptional Activation of FAM111B
            Contributes to the Malignancy of Breast Cancer.
REFERENCE   5  (residues 1 to 704)
  AUTHORS   Arowolo A, Rhoda C and Khumalo N.
  TITLE     Mutations within the putative protease domain of the human FAM111B
            gene may predict disease severity and poor prognosis: A review of
            POIKTMP cases
  JOURNAL   Exp Dermatol 31 (5), 648-654 (2022)
   PUBMED   35122327
  REMARK    GeneRIF: Mutations within the putative protease domain of the human
            FAM111B gene may predict disease severity and poor prognosis: A
            review of POIKTMP cases.
            Review article
REFERENCE   6  (residues 1 to 704)
  AUTHORS   Gcelu A, Deshpande G, Shaboodien G, Spracklen TF, Kalla A, Tikly M,
            Mayosi BM and Hodkinson B.
  TITLE     Mutations of FAM111B gene are not associated with Systemic
            Sclerosis
  JOURNAL   Sci Rep 8 (1), 15988 (2018)
   PUBMED   30375432
  REMARK    GeneRIF: One rare variant was found in a patient with SSc but has
            no functional or structural impact on the FAM111B gene. In this
            cohort, FAM111B gene mutations are not associated with SSc.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 704)
  AUTHORS   Seo A, Walsh T, Lee MK, Ho PA, Hsu EK, Sidbury R, King MC and
            Shimamura A.
  TITLE     FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic
            Dysfunction
  JOURNAL   Pancreas 45 (6), 858-862 (2016)
   PUBMED   26495788
  REMARK    GeneRIF: Data indicate a heterozygous germline in-frame deletion in
            the gene FAM111B protein (c.1261_1263delAAG, p.Lys421del)
            cosegregated with the phenotype.
REFERENCE   8  (residues 1 to 704)
  AUTHORS   Mercier S, Kury S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna
            C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger
            D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C,
            Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T,
            Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot
            S, Keavney B, Bezieau S and Mayosi BM.
  TITLE     Mutations in FAM111B cause hereditary fibrosing poikiloderma with
            tendon contracture, myopathy, and pulmonary fibrosis
  JOURNAL   Am J Hum Genet 93 (6), 1100-1107 (2013)
   PUBMED   24268661
  REMARK    GeneRIF: Mutations in FAM111B cause hereditary fibrosing
            poikiloderma with tendon contracture, myopathy, and pulmonary
            fibrosis.
REFERENCE   9  (residues 1 to 704)
  AUTHORS   Van Damme P, Lasa M, Polevoda B, Gazquez C, Elosegui-Artola A, Kim
            DS, De Juan-Pardo E, Demeyer K, Hole K, Larrea E, Timmerman E,
            Prieto J, Arnesen T, Sherman F, Gevaert K and Aldabe R.
  TITLE     N-terminal acetylome analyses and functional insights of the
            N-terminal acetyltransferase NatB
  JOURNAL   Proc Natl Acad Sci U S A 109 (31), 12449-12454 (2012)
   PUBMED   22814378
REFERENCE   10 (residues 1 to 704)
  AUTHORS   Mercier,S., Kury,S. and Barbarot,S.
  TITLE     Hereditary Fibrosing Poikiloderma with Tendon Contractures,
            Myopathy, and Pulmonary Fibrosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27748098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG613098.1, AY457926.1 and
            BM674379.1.
            
            Summary: This gene encodes a protein with a trypsin-like
            cysteine/serine peptidase domain in the C-terminus. Mutations in
            this gene are associated with an autosomal dominant form of
            hereditary fibrosing poikiloderma (HFP). Affected individuals
            display mottled pigmentation, telangiectasia, epidermal atrophy,
            tendon contractures, and progressive pulmonary fibrosis.
            Alternative splicing results in multiple transcript variants
            encoding distinct isoforms. A paralog of this gene which also has a
            trypsin&#8208;like peptidase domain, FAM111A, is located only 16 kb
            from this gene on human chromosome 11q12.1. [provided by RefSeq,
            Apr 2014].
            
            Transcript Variant: This variant (2) lacks the exon containing the
            translation start codon compared to variant 1. The resulting
            isoform (b) is shorter at the N-terminus compared to isoform a.
            Variants 2 and 3 both encode the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK303520.1, SRR1163657.354254.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..704
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     Protein         1..704
                     /product="serine protease FAM111B isoform b"
                     /note="cancer-associated nucleoprotein; family with
                     sequence similarity 111 member B; serine protease FAM111B"
                     /calculated_mol_wt=81070
     Region          445..634
                     /region_name="Trypsin_2"
                     /note="Trypsin-like peptidase domain; pfam13365"
                     /db_xref="CDD:433149"
     CDS             1..704
                     /gene="FAM111B"
                     /gene_synonym="CANP; POIKTMP"
                     /coded_by="NM_001142703.2:115..2229"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS44611.1"
                     /db_xref="GeneID:374393"
                     /db_xref="HGNC:HGNC:24200"
                     /db_xref="MIM:615584"
ORIGIN      
        1 mkqthadtpv dhclsgirkc sstfklksev nkhetalemq npnlnnkecc ftftlngnsr
       61 kldrsvftay gkpsesiysa lsandyfser iknqfnknii vyeektidgh inlgmplkcl
      121 psdshfkitf gqrksskedg hilrqcenpn mecilfhvva igrtrkkivk inelhekgsk
      181 lciyalkget iegalckdgr frsdigefew klkeghkkiy gkqsmvdevs gkvlemdisk
      241 kkalqqkdih kkikqnesat deinhqsliq skkkvhkpkk dgetkdvehs reqilppqdl
      301 shyikdktrq tiprirnyyf cslprkyrqi nsqvrrrphl grryainldv qkeainllkn
      361 yqtlneaimh qypnfkeeaq wvrkyfreeq krmnlspakq fniykkdfgk mtansvsvat
      421 ceqltyysks vgfmqwdnng ntgnatcfvf nggyiftcrh vvhlmvgknt hpslwpdiis
      481 kcakvtftyt efcptpdnwf siepwlkvsn enldyailkl kengnafppg lwrqispqps
      541 tgliylighp egqikkidgc tviplnerlk kypndcqdgl vdlydttsnv ycmftqrsfl
      601 sevwnthtls ydtcfsdgss gspvfnasgk lvalhtfglf yqrgfnvhal iefgysmdsi
      661 lcdikktnes lykslndekl etydeekgkq esslqdhqie pmec
//
LOCUS       NP_001230676             331 aa            linear   PRI 15-MAR-2023
DEFINITION  apoptosis inhibitor 5 isoform d [Homo sapiens].
ACCESSION   NP_001230676
VERSION     NP_001230676.1
DBSOURCE    REFSEQ: accession NM_001243747.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 331)
  AUTHORS   Matsuzawa-Ishimoto Y, Yao X, Koide A, Ueberheide BM, Axelrad JE,
            Reis BS, Parsa R, Neil JA, Devlin JC, Rudensky E, Dewan MZ, Cammer
            M, Blumberg RS, Ding Y, Ruggles KV, Mucida D, Koide S and Cadwell
            K.
  TITLE     The gammadelta IEL effector API5 masks genetic susceptibility to
            Paneth cell death
  JOURNAL   Nature 610 (7932), 547-554 (2022)
   PUBMED   36198790
  REMARK    GeneRIF: The gammadelta IEL effector API5 masks genetic
            susceptibility to Paneth cell death.
REFERENCE   2  (residues 1 to 331)
  AUTHORS   Deng T, Hu B, Wang X, Yan Y, Zhou J, Lin L, Xu Y, Zheng X and Zhou
            J.
  TITLE     DeSUMOylation of Apoptosis Inhibitor 5 by Avibirnavirus VP3
            Supports Virus Replication
  JOURNAL   mBio 12 (4), e0198521 (2021)
   PUBMED   34372697
  REMARK    GeneRIF: DeSUMOylation of Apoptosis Inhibitor 5 by Avibirnavirus
            VP3 Supports Virus Replication.
REFERENCE   3  (residues 1 to 331)
  AUTHORS   Sharma VK and Lahiri M.
  TITLE     Interplay between p300 and HDAC1 regulate acetylation and stability
            of Api5 to regulate cell proliferation
  JOURNAL   Sci Rep 11 (1), 16427 (2021)
   PUBMED   34385547
  REMARK    GeneRIF: Interplay between p300 and HDAC1 regulate acetylation and
            stability of Api5 to regulate cell proliferation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 331)
  AUTHORS   Zhang J, Lu Y, Zhang Y, Chen Y, Zhu W, Zhu H, Wu J and Tang J.
  TITLE     MicroRNA-224 modulates chemosensitivity of breast cancer cells to
            docetaxel by apoptosis inhibitor 5
  JOURNAL   J BUON 26 (2), 450-458 (2021)
   PUBMED   34076992
  REMARK    GeneRIF: MicroRNA-224 modulates chemosensitivity of breast cancer
            cells to docetaxel by apoptosis inhibitor 5.
REFERENCE   5  (residues 1 to 331)
  AUTHORS   Chen M, Wu W, Liu D, Lv Y, Deng H, Gao S, Gu Y, Huang M, Guo X, Liu
            B, Zhao B and Pang Q.
  TITLE     Evolution and Structure of API5 and Its Roles in Anti-Apoptosis
  JOURNAL   Protein Pept Lett 28 (6), 612-622 (2021)
   PUBMED   33319655
  REMARK    GeneRIF: Evolution and Structure of API5 and Its Roles in
            Anti-Apoptosis.
            Review article
REFERENCE   6  (residues 1 to 331)
  AUTHORS   Li Z, Hu CY, Mo BQ, Xu JD and Zhao Y.
  TITLE     [Effect of beta-carotene on gene expression of breast cancer cells]
  JOURNAL   Ai Zheng 22 (4), 380-384 (2003)
   PUBMED   12703993
REFERENCE   7  (residues 1 to 331)
  AUTHORS   Van den Berghe L, Laurell H, Huez I, Zanibellato C, Prats H and
            Bugler B.
  TITLE     FIF [fibroblast growth factor-2 (FGF-2)-interacting-factor], a
            nuclear putatively antiapoptotic factor, interacts specifically
            with FGF-2
  JOURNAL   Mol Endocrinol 14 (11), 1709-1724 (2000)
   PUBMED   11075807
REFERENCE   8  (residues 1 to 331)
  AUTHORS   Kim JW, Cho HS, Kim JH, Hur SY, Kim TE, Lee JM, Kim IK and Namkoong
            SE.
  TITLE     AAC-11 overexpression induces invasion and protects cervical cancer
            cells from apoptosis
  JOURNAL   Lab Invest 80 (4), 587-594 (2000)
   PUBMED   10780674
REFERENCE   9  (residues 1 to 331)
  AUTHORS   Gianfrancesco F, Esposito T, Ciccodicola A, D'Esposito M,
            Mazzarella R, D'Urso M and Forabosco A.
  TITLE     Molecular cloning and fine mapping of API5L1, a novel human gene
            strongly related to an antiapoptotic gene
  JOURNAL   Cytogenet Cell Genet 84 (3-4), 164-166 (1999)
   PUBMED   10393420
REFERENCE   10 (residues 1 to 331)
  AUTHORS   Tewari M, Yu M, Ross B, Dean C, Giordano A and Rubin R.
  TITLE     AAC-11, a novel cDNA that inhibits apoptosis after growth factor
            withdrawal
  JOURNAL   Cancer Res 57 (18), 4063-4069 (1997)
   PUBMED   9307294
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087276.13.
            
            Summary: This gene encodes an apoptosis inhibitory protein whose
            expression prevents apoptosis after growth factor deprivation. This
            protein suppresses the transcription factor E2F1-induced apoptosis
            and also interacts with, and negatively regulates Acinus, a nuclear
            factor involved in apoptotic DNA fragmentation. Its depletion
            enhances the cytotoxic action of the chemotherapeutic drugs.
            Multiple alternatively spliced transcript variants encoding
            different isoforms have been identified. [provided by RefSeq, Aug
            2011].
            
            Transcript Variant: This variant (5) has multiple differences in
            the coding region, one of which results in a translational
            frameshift, compared to variant 1. The resulting protein (isoform
            d) lacks an internal segment and has a shorter and distinct
            C-terminus, compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK293303.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p12"
     Protein         1..331
                     /product="apoptosis inhibitor 5 isoform d"
                     /note="fibroblast growth factor 2-interacting factor 2;
                     migration-inducing protein MIG8; FIF; antiapoptosis clone
                     11 protein; cell migration-inducing gene 8 protein"
                     /calculated_mol_wt=37377
     Region          4..330
                     /region_name="API5"
                     /note="Apoptosis inhibitory protein 5 (API5); pfam05918"
                     /db_xref="CDD:428672"
     Region          63..91
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          97..130
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     CDS             1..331
                     /gene="API5"
                     /gene_synonym="AAC-11; AAC11"
                     /coded_by="NM_001243747.2:133..1128"
                     /note="isoform d is encoded by transcript variant 5"
                     /db_xref="GeneID:8539"
                     /db_xref="HGNC:HGNC:594"
                     /db_xref="MIM:609774"
ORIGIN      
        1 mptveelyrn ygiladateq vgqhkdayqv ildgvkggtk ekrlaaqfip kffkhfpela
       61 dsainaqldl cededvsirr qaikelpqfa tgenlprvad iltqllqtdd saefnlvnna
      121 llsifkmekl etnlrklfdk lleymplppe eaengenagn eepklqfsyv ecllysfhql
      181 grklpdflta klnaeklkdf kirlqyfarg lqvyirqlrl alqgktgeal kteenkikvv
      241 alkitnninv likdlfhipp sykstvtlsw kpvqkveigq krasedttsg sppkkssagp
      301 krdarqiynp psgkyssnlg nfnyerslqg k
//
LOCUS       NP_001231639             699 aa            linear   PRI 18-MAR-2023
DEFINITION  glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
            isoform 1 [Homo sapiens].
ACCESSION   NP_001231639
VERSION     NP_001231639.1
DBSOURCE    REFSEQ: accession NM_001244710.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 699)
  AUTHORS   Li D, Guan M, Cao X, Zha ZQ, Zhang P, Xiang H, Zhou Y, Peng Q, Xu
            Z, Lu L and Liu G.
  TITLE     GFPT1 promotes the proliferation of cervical cancer via regulating
            the ubiquitination and degradation of PTEN
  JOURNAL   Carcinogenesis 43 (10), 969-979 (2022)
   PUBMED   36040914
  REMARK    GeneRIF: GFPT1 promotes the proliferation of cervical cancer via
            regulating the ubiquitination and degradation of PTEN.
REFERENCE   2  (residues 1 to 699)
  AUTHORS   Jiang K, Zheng Y, Lin J, Wu X, Yu Y, Zhu M, Fang X, Zhou M, Li X
            and Hong D.
  TITLE     Diverse myopathological features in the congenital myasthenia
            syndrome with GFPT1 mutation
  JOURNAL   Brain Behav 12 (2), e2469 (2022)
   PUBMED   34978387
  REMARK    GeneRIF: Diverse myopathological features in the congenital
            myasthenia syndrome with GFPT1 mutation.
REFERENCE   3  (residues 1 to 699)
  AUTHORS   Mensch A, Cordts I, Scholle L, Joshi PR, Kleeberg K, Emmer A,
            Beck-Woedl S, Park J, Haack TB, Stoltenburg-Didinger G, Zierz S and
            Deschauer M.
  TITLE     GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a
            Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology
            Solved by Next-Generation-Sequencing
  JOURNAL   J Neuromuscul Dis 9 (4), 533-541 (2022)
   PUBMED   35694932
  REMARK    GeneRIF: GFPT1-Associated Congenital Myasthenic Syndrome Mimicking
            a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology
            Solved by Next-Generation-Sequencing.
REFERENCE   4  (residues 1 to 699)
  AUTHORS   Nerlich AG, Sauer U, Kolm-Litty V, Wagner E, Koch M and Schleicher
            ED.
  TITLE     Expression of glutamine:fructose-6-phosphate amidotransferase in
            human tissues: evidence for high variability and distinct
            regulation in diabetes
  JOURNAL   Diabetes 47 (2), 170-178 (1998)
   PUBMED   9519709
REFERENCE   5  (residues 1 to 699)
  AUTHORS   Zhou J, Neidigh JL, Espinosa R 3rd, LeBeau MM and McClain DA.
  TITLE     Human glutamine: fructose-6-phosphate amidotransferase:
            characterization of mRNA and chromosomal assignment to 2p13
  JOURNAL   Hum Genet 96 (1), 99-101 (1995)
   PUBMED   7607664
REFERENCE   6  (residues 1 to 699)
  AUTHORS   Whitmore TE, Mudri SL and McKnight GL.
  TITLE     Physical mapping of the human glutamine:fructose-6-phosphate
            amidotransferase gene (GFPT) to chromosome 2p13
  JOURNAL   Genomics 26 (2), 422-423 (1995)
   PUBMED   7601477
REFERENCE   7  (residues 1 to 699)
  AUTHORS   Sayeski PP, Paterson AJ and Kudlow JE.
  TITLE     The murine glutamine:fructose-6-phosphate amidotransferase-encoding
            cDNA sequence
  JOURNAL   Gene 140 (2), 289-290 (1994)
   PUBMED   8144040
REFERENCE   8  (residues 1 to 699)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
REFERENCE   9  (residues 1 to 699)
  AUTHORS   McKnight GL, Mudri SL, Mathewes SL, Traxinger RR, Marshall S,
            Sheppard PO and O'Hara PJ.
  TITLE     Molecular cloning, cDNA sequence, and bacterial expression of human
            glutamine:fructose-6-phosphate amidotransferase
  JOURNAL   J Biol Chem 267 (35), 25208-25212 (1992)
   PUBMED   1460020
REFERENCE   10 (residues 1 to 699)
  AUTHORS   Traxinger RR and Marshall S.
  TITLE     Coordinated regulation of glutamine:fructose-6-phosphate
            amidotransferase activity by insulin, glucose, and glutamine. Role
            of hexosamine biosynthesis in enzyme regulation
  JOURNAL   J Biol Chem 266 (16), 10148-10154 (1991)
   PUBMED   2037571
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI560595.1, DB133199.1,
            AF334737.1, M90516.1 and AC114772.5.
            
            Summary: This gene encodes the first and rate-limiting enzyme of
            the hexosamine pathway and controls the flux of glucose into the
            hexosamine pathway. The product of this gene catalyzes the
            formation of glucosamine 6-phosphate. [provided by RefSeq, Sep
            2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.658924.1,
                                           SRR1660807.245495.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357308.9/ ENSP00000349860.4
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..699
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     Protein         1..699
                     /product="glutamine--fructose-6-phosphate aminotransferase
                     [isomerizing] 1 isoform 1"
                     /EC_number="2.6.1.16"
                     /note="glucosamine--fructose-6-phosphate aminotransferase
                     [isomerizing] 1; hexosephosphate aminotransferase 1;
                     D-fructose-6-phosphate amidotransferase 1;
                     glutamine:fructose-6-phosphate amidotransferase 1;
                     glutamine--fructose-6-phosphate aminotransferase
                     [isomerizing] 1"
                     /calculated_mol_wt=78676
     Region          1..699
                     /region_name="PLN02981"
                     /note="glucosamine:fructose-6-phosphate aminotransferase"
                     /db_xref="CDD:215531"
     Site            103
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q06210.3)"
     Site            261
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q06210.3)"
     Region          313..680
                     /region_name="Isomerase"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06210.3)"
     CDS             1..699
                     /gene="GFPT1"
                     /gene_synonym="CMS12; CMSTA1; GFA; GFAT; GFAT 1; GFAT1;
                     GFAT1m; GFPT; GFPT1L; MSLG"
                     /coded_by="NM_001244710.2:157..2256"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS58713.1"
                     /db_xref="GeneID:2673"
                     /db_xref="HGNC:HGNC:4241"
                     /db_xref="MIM:138292"
ORIGIN      
        1 mcgifaylny hvprtrreil etlikglqrl eyrgydsagv gfdggndkdw eanackiqli
       61 kkkgkvkald eevhkqqdmd ldiefdvhlg iahtrwathg epspvnshpq rsdknnefiv
      121 ihngiitnyk dlkkfleskg ydfesetdte tiaklvkymy dnresqdtsf ttlverviqq
      181 legafalvfk svhfpgqavg trrgspllig vrsehklstd hipilyrtar tqigskftrw
      241 gsqgergkdk kgscnlsrvd sttclfpvee kaveyyfasd asaviehtnr vifledddva
      301 avvdgrlsih rikrtagdhp gravqtlqme lqqimkgnfs sfmqkeifeq pesvvntmrg
      361 rvnfddytvn lgglkdhike iqrcrrlili acgtsyhagv atrqvleelt elpvmvelas
      421 dfldrntpvf rddvcfflsq sgetadtlmg lryckergal tvgitntvgs sisretdcgv
      481 hinagpeigv astkaytsqf vslvmfalmm cddrismqer rkeimlglkr lpdlikevls
      541 mddeiqklat elyhqksvli mgrgyhyatc legalkikei tymhsegila gelkhgplal
      601 vdklmpvimi imrdhtyakc qnalqqvvar qgrpvvicdk edtetikntk rtikvphsvd
      661 clqgilsvip lqllafhlav lrgydvdfpr nlaksvtve
//
LOCUS       NP_004825               1165 aa            linear   PRI 18-MAR-2023
DEFINITION  mitogen-activated protein kinase kinase kinase kinase 4 isoform 1
            [Homo sapiens].
ACCESSION   NP_004825 NP_060262
VERSION     NP_004825.3
DBSOURCE    REFSEQ: accession NM_004834.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1165)
  AUTHORS   Cesana M, Vaccaro L, Larsen MJ, Kibaek M, Micale L, Riccardo S,
            Annunziata P, Colantuono C, Di Filippo L, De Brasi D, Castori M,
            Fagerberg C, Acquaviva F and Cacchiarelli D.
  TITLE     Integrated exome and transcriptome analysis prioritizes MAP4K4 de
            novo frameshift variants in autism spectrum disorder as a novel
            disease-gene association
  JOURNAL   Hum Genet 142 (3), 343-350 (2023)
   PUBMED   36469137
  REMARK    GeneRIF: Integrated exome and transcriptome analysis prioritizes
            MAP4K4 de novo frameshift variants in autism spectrum disorder as a
            novel disease-gene association.
REFERENCE   2  (residues 1 to 1165)
  AUTHORS   Wan C, Chen W, Cui Y and He Z.
  TITLE     MAP4K4/JNK Signaling Pathway Stimulates Proliferation and
            Suppresses Apoptosis of Human Spermatogonial Stem Cells and Lower
            Level of MAP4K4 Is Associated with Male Infertility
  JOURNAL   Cells 11 (23), 3807 (2022)
   PUBMED   36497065
  REMARK    GeneRIF: MAP4K4/JNK Signaling Pathway Stimulates Proliferation and
            Suppresses Apoptosis of Human Spermatogonial Stem Cells and Lower
            Level of MAP4K4 Is Associated with Male Infertility.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1165)
  AUTHORS   LeClaire LL, Rana M, Baumgartner M and Barber DL.
  TITLE     The Nck-interacting kinase NIK increases Arp2/3 complex activity by
            phosphorylating the Arp2 subunit
  JOURNAL   J Cell Biol 208 (2), 161-170 (2015)
   PUBMED   25601402
REFERENCE   4  (residues 1 to 1165)
  AUTHORS   Santhana Kumar K, Tripolitsioti D, Ma M, Grahlert J, Egli KB,
            Fiaschetti G, Shalaby T, Grotzer MA and Baumgartner M.
  TITLE     The Ser/Thr kinase MAP4K4 drives c-Met-induced motility and
            invasiveness in a cell-based model of SHH medulloblastoma
  JOURNAL   Springerplus 4, 19 (2015)
   PUBMED   25625039
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1165)
  AUTHORS   Ma M and Baumgartner M.
  TITLE     Intracellular Theileria annulata promote invasive cell motility
            through kinase regulation of the host actin cytoskeleton
  JOURNAL   PLoS Pathog 10 (3), e1004003 (2014)
   PUBMED   24626571
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1165)
  AUTHORS   Machida N, Umikawa M, Takei K, Sakima N, Myagmar BE, Taira K,
            Uezato H, Ogawa Y and Kariya K.
  TITLE     Mitogen-activated protein kinase kinase kinase kinase 4 as a
            putative effector of Rap2 to activate the c-Jun N-terminal kinase
  JOURNAL   J Biol Chem 279 (16), 15711-15714 (2004)
   PUBMED   14966141
  REMARK    GeneRIF: MAP4K4 is a putative effector of Rap2, a Ras family small
            GTP-binding protein, mediating the activation of JNK by Rap2
REFERENCE   7  (residues 1 to 1165)
  AUTHORS   Wright JH, Wang X, Manning G, LaMere BJ, Le P, Zhu S, Khatry D,
            Flanagan PM, Buckley SD, Whyte DB, Howlett AR, Bischoff JR, Lipson
            KE and Jallal B.
  TITLE     The STE20 kinase HGK is broadly expressed in human tumor cells and
            can modulate cellular transformation, invasion, and adhesion
  JOURNAL   Mol Cell Biol 23 (6), 2068-2082 (2003)
   PUBMED   12612079
  REMARK    GeneRIF: The STE20 kinase HGK is broadly expressed in human tumor
            cells and can modulate cellular transformation, invasion, and
            adhesion.
REFERENCE   8  (residues 1 to 1165)
  AUTHORS   Becker E, Huynh-Do U, Holland S, Pawson T, Daniel TO and Skolnik
            EY.
  TITLE     Nck-interacting Ste20 kinase couples Eph receptors to c-Jun
            N-terminal kinase and integrin activation
  JOURNAL   Mol Cell Biol 20 (5), 1537-1545 (2000)
   PUBMED   10669731
REFERENCE   9  (residues 1 to 1165)
  AUTHORS   Yao Z, Zhou G, Wang XS, Brown A, Diener K, Gan H and Tan TH.
  TITLE     A novel human STE20-related protein kinase, HGK, that specifically
            activates the c-Jun N-terminal kinase signaling pathway
  JOURNAL   J Biol Chem 274 (4), 2118-2125 (1999)
   PUBMED   9890973
REFERENCE   10 (residues 1 to 1165)
  AUTHORS   Su YC, Han J, Xu S, Cobb M and Skolnik EY.
  TITLE     NIK is a new Ste20-related kinase that binds NCK and MEKK1 and
            activates the SAPK/JNK cascade via a conserved regulatory domain
  JOURNAL   EMBO J 16 (6), 1279-1290 (1997)
   PUBMED   9135144
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DR002278.1, AC007005.3,
            AF096300.1, AC005035.2 and BU625485.1.
            On Jun 14, 2011 this sequence version replaced NP_004825.2.
            
            Summary: The protein encoded by this gene is a member of the
            serine/threonine protein kinase family. This kinase has been shown
            to specifically activate MAPK8/JNK. The activation of MAPK8 by this
            kinase is found to be inhibited by the dominant-negative mutants of
            MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this
            kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase
            cascade, and mediate the TNF-alpha signaling pathway. Alternatively
            spliced transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) lacks two alternate in-frame
            exons but includes a different in-frame exon in the central coding
            region, and uses an alternate in-frame splice site in both the
            central and 3' coding regions, compared to variant 2. The encoded
            isoform (1) is shorter than isoform 2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF096300.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1165
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     Protein         1..1165
                     /product="mitogen-activated protein kinase kinase kinase
                     kinase 4 isoform 1"
                     /EC_number="2.7.11.1"
                     /note="hepatocyte progenitor kinase-like/germinal center
                     kinase-like kinase; Ste20 group protein kinase HGK;
                     epididymis secretory protein Li 31; MEK kinase kinase 4;
                     nck-interacting kinase; HPK/GCK-like kinase HGK; MAPK/ERK
                     kinase kinase kinase 4"
                     /calculated_mol_wt=133271
     Region          8..289
                     /region_name="STKc_MAP4K4_6_N"
                     /note="N-terminal Catalytic domain of the Serine/Threonine
                     Kinases, Mitogen-Activated Protein Kinase Kinase Kinase
                     Kinase 4 and 6; cd06636"
                     /db_xref="CDD:270806"
     Site            order(31..35,39,52,54,83,105..108,111..112,115,153,
                     155..158,160,170..171,174,188..191,193,225,234)
                     /site_type="active"
                     /db_xref="CDD:270806"
     Site            order(31..35,39,52,54,83,105..108,111..112,115,157..158,
                     160,171)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270806"
     Site            order(34..35,153,155..157,174,188..191,193,225,234)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270806"
     Site            170..193
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270806"
     Region          839..1145
                     /region_name="CNH"
                     /note="Domain found in NIK1-like kinases, mouse citron and
                     yeast ROM1, ROM2; smart00036"
                     /db_xref="CDD:214481"
     CDS             1..1165
                     /gene="MAP4K4"
                     /gene_synonym="FLH21957; HEL-S-31; HGK; MEKKK4; NIK"
                     /coded_by="NM_004834.5:375..3872"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS82487.1"
                     /db_xref="GeneID:9448"
                     /db_xref="HGNC:HGNC:6866"
                     /db_xref="MIM:604666"
ORIGIN      
        1 mandspaksl vdidlsslrd pagifelvev vgngtygqvy kgrhvktgql aaikvmdvte
       61 deeeeiklei nmlkkyshhr niatyygafi kksppghddq lwlvmefcga gsitdlvknt
      121 kgntlkedwi ayisreilrg lahlhihhvi hrdikgqnvl ltenaevklv dfgvsaqldr
      181 tvgrrntfig tpywmapevi acdenpdaty dyrsdlwscg itaiemaega pplcdmhpmr
      241 alfliprnpp prlkskkwsk kffsfiegcl vknymqrpst eqllkhpfir dqpnerqvri
      301 qlkdhidrtr kkrgekdete yeysgseeee eevpeqegep ssivnvpges tlrrdflrlq
      361 qenkerseal rrqqllqeqq lreqeeykrq llaerqkrie qqkeqrrrle eqqrrerear
      421 rqqereqrrr eqeekrrlee lerrrkeeee rrraeeekrr vereqeyirr qleeeqrhle
      481 vlqqqllqeq amllhdhrrp hpqhsqqppp pqqerskpsf hapepkahye padrarevpv
      541 rttsrspvls rrdsplqgsg qqnsqagqrn stsieprllw erveklvprp gsgsssgssn
      601 sgsqpgshpg sqsgsgerfr vrsssksegs psqrlenavk kpedkkevfr plkpagevdl
      661 talakelrav edvrpphkvt dysssseesg ttdeedddve qegadestsg pedtraassl
      721 nlsngetesv ktmivhddve sepamtpske gtlivrqtqs asstlqkhks sssftpfidp
      781 rllqispssg ttvtsvvgfs cdgmrpeair qdptrkgsvv nvnptntrpq sdtpeirkyk
      841 krfnseilca alwgvnllvg tesglmlldr sgqgkvypli nrrrfqqmdv leglnvlvti
      901 sgkkdklrvy ylswlrnkil hndpevekkq gwttvgdleg cvhykvvkye rikflvialk
      961 ssvevyawap kpyhkfmafk sfgelvhkpl lvdltveegq rlkviygsca gfhavdvdsg
     1021 svydiylpth vrknphsmiq csikphaiii lpntdgmell vcyedegvyv ntygritkdv
     1081 vlqwgempts vayirsnqtm gwgekaieir svetghldgv fmhkraqrlk flcerndkvf
     1141 fasvrsggss qvyfmtlgrt sllsw
//
LOCUS       NP_001371087             489 aa            linear   PRI 18-MAR-2023
DEFINITION  fibulin-5 isoform 2 precursor [Homo sapiens].
ACCESSION   NP_001371087
VERSION     NP_001371087.1
DBSOURCE    REFSEQ: accession NM_001384158.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 489)
  AUTHORS   Kapuganti RS, Bharati B, Mohanty PP and Alone DP.
  TITLE     Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated
            with pseudoexfoliation glaucoma but not with pseudoexfoliation
            syndrome
  JOURNAL   Biosci Rep 43 (3) (2023)
   PUBMED   36794549
  REMARK    GeneRIF: Genetic variants and haplotypes in fibulin-5 (FBLN5) are
            associated with pseudoexfoliation glaucoma but not with
            pseudoexfoliation syndrome.
REFERENCE   2  (residues 1 to 489)
  AUTHORS   Garcia-Valero J, Olloquequi J, Rodriguez E, Martin-Satue M, Texido
            L and Ferrer J.
  TITLE     Decreased Expression of EC-SOD and Fibulin-5 in Alveolar Walls of
            Lungs From COPD Patients
  JOURNAL   Arch Bronconeumol 58 (6), 482-489 (2022)
   PUBMED   35312591
  REMARK    GeneRIF: Decreased Expression of EC-SOD and Fibulin-5 in Alveolar
            Walls of Lungs From COPD Patients.
REFERENCE   3  (residues 1 to 489)
  AUTHORS   Li Y, Yang X and Lu D.
  TITLE     Knockdown of ubiquitin-conjugating enzyme E2T (UBE2T) suppresses
            lung adenocarcinoma progression via targeting fibulin-5 (FBLN5)
  JOURNAL   Bioengineered 13 (5), 11867-11880 (2022)
   PUBMED   35543375
  REMARK    GeneRIF: Knockdown of ubiquitin-conjugating enzyme E2T (UBE2T)
            suppresses lung adenocarcinoma progression via targeting fibulin-5
            (FBLN5).
REFERENCE   4  (residues 1 to 489)
  AUTHORS   Huang M, Liao X, Li L, Li G and Chen M.
  TITLE     MiR-552-3p facilitated cell proliferation, migration and invasion
            by sponging Fibulin 5 in non-small cell lung cancer via activation
            of ERK/GSK3beta/beta-catenin signaling pathway
  JOURNAL   Tissue Cell 73, 101672 (2021)
   PUBMED   34736163
  REMARK    GeneRIF: MiR-552-3p facilitated cell proliferation, migration and
            invasion by sponging Fibulin 5 in non-small cell lung cancer via
            activation of ERK/GSK3beta/beta-catenin signaling pathway.
REFERENCE   5  (residues 1 to 489)
  AUTHORS   Sun B, Tomita B, Salinger A, Tilvawala RR, Li L, Hakami H, Liu T,
            Tsoyi K, Rosas IO, Reinhardt DP, Thompson PR and Ho IC.
  TITLE     PAD2-mediated citrullination of Fibulin-5 promotes elastogenesis
  JOURNAL   Matrix Biol 102, 70-84 (2021)
   PUBMED   34274450
  REMARK    GeneRIF: PAD2-mediated citrullination of Fibulin-5 promotes
            elastogenesis.
REFERENCE   6  (residues 1 to 489)
  AUTHORS   Yanagisawa H, Davis EC, Starcher BC, Ouchi T, Yanagisawa M,
            Richardson JA and Olson EN.
  TITLE     Fibulin-5 is an elastin-binding protein essential for elastic fibre
            development in vivo
  JOURNAL   Nature 415 (6868), 168-171 (2002)
   PUBMED   11805834
REFERENCE   7  (residues 1 to 489)
  AUTHORS   Kobayashi M and Hanai R.
  TITLE     M phase-specific association of human topoisomerase IIIbeta with
            chromosomes
  JOURNAL   Biochem Biophys Res Commun 287 (1), 282-287 (2001)
   PUBMED   11549288
REFERENCE   8  (residues 1 to 489)
  AUTHORS   Nakamura T, Ruiz-Lozano P, Lindner V, Yabe D, Taniwaki M, Furukawa
            Y, Kobuke K, Tashiro K, Lu Z, Andon NL, Schaub R, Matsumori A,
            Sasayama S, Chien KR and Honjo T.
  TITLE     DANCE, a novel secreted RGD protein expressed in developing,
            atherosclerotic, and balloon-injured arteries
  JOURNAL   J Biol Chem 274 (32), 22476-22483 (1999)
   PUBMED   10428823
REFERENCE   9  (residues 1 to 489)
  AUTHORS   Kowal RC, Jolsin JM, Olson EN and Schultz RA.
  TITLE     Assignment of fibulin-5 (FBLN5) to human chromosome 14q31 by in
            situ hybridization and radiation hybrid mapping
  JOURNAL   Cytogenet Cell Genet 87 (1-2), 2-3 (1999)
   PUBMED   10640802
REFERENCE   10 (residues 1 to 489)
  AUTHORS   Van Maldergem,L. and Loeys,B.
  TITLE     FBLN5-Related Cutis Laxa
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301756
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049872.3 and AL590328.2.
            
            Summary: The protein encoded by this gene is a secreted,
            extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif
            and calcium-binding EGF-like domains. It promotes adhesion of
            endothelial cells through interaction of integrins and the RGD
            motif. It is prominently expressed in developing arteries but less
            so in adult vessels. However, its expression is reinduced in
            balloon-injured vessels and atherosclerotic lesions, notably in
            intimal vascular smooth muscle cells and endothelial cells.
            Therefore, the protein encoded by this gene may play a role in
            vascular development and remodeling. Defects in this gene are a
            cause of autosomal dominant cutis laxa, autosomal recessive cutis
            laxa type I (CL type I), and age-related macular degeneration type
            3 (ARMD3). [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX248290.1, SRR14372080.3715499.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..489
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12"
     Protein         1..489
                     /product="fibulin-5 isoform 2 precursor"
                     /note="urine p50 protein; developmental arteries and
                     neural crest EGF-like protein; testis tissue sperm-binding
                     protein Li 75n; embryonic vascular EGF-like
                     repeat-containing protein"
                     /calculated_mol_wt=51765
     sig_peptide     1..23
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2379
     Region          168..199
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Region          <202..245
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Site            order(209,212,224)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          228..251
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          248..286
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(248,251,264)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          299..327
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     CDS             1..489
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /coded_by="NM_001384158.1:466..1935"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS91919.1"
                     /db_xref="GeneID:10516"
                     /db_xref="HGNC:HGNC:3602"
                     /db_xref="MIM:604580"
ORIGIN      
        1 mpgikriltv tilalclpsp gnaqaqctng fdldrqsgqc ldgvslsspr lecngaisah
       61 cnlclpgssd ssasasqvag itdidecrti peacrgdmmc vnqnggylci prtnpvyrgp
      121 ysnpystpys gpypaaappl sapnyptisr plicrfgyqm desnqcvdvd ecatdshqcn
      181 ptqicinteg gytcsctdgy wllegqcldi decrygycqq lcanvpgsys ctcnpgftln
      241 edgrscqdvn ecatenpcvq tcvntygsfi crcdpgyele edgvhcsdmd ecsfseflcq
      301 hecvnqpgty fcscppgyil lddnrscqdi necehrnhtc nlqqtcynlq ggfkcidpir
      361 ceepylrisd nrcmcpaenp gcrdqpftil yrdmdvvsgr svpadifqmq attrypgayy
      421 ifqiksgneg refymrqtgp isatlvmtrp ikgpreiqld lemitvntvi nfrgssvirl
      481 riyvsqypf
//
LOCUS       XP_047280707             853 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C1orf112 isoform X1 [Homo sapiens].
ACCESSION   XP_047280707
VERSION     XP_047280707.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424751.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..853
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..853
                     /product="uncharacterized protein C1orf112 isoform X1"
                     /calculated_mol_wt=96424
     Region          176..728
                     /region_name="DUF4487"
                     /note="Domain of unknown function (DUF4487); pfam14868"
                     /db_xref="CDD:434276"
     CDS             1..853
                     /gene="FIRRM"
                     /gene_synonym="Apolo1; C1orf112; FLIP; MEICA1"
                     /coded_by="XM_047424751.1:408..2969"
                     /db_xref="GeneID:55732"
                     /db_xref="HGNC:HGNC:25565"
ORIGIN      
        1 mflphmnhlt leqtffsqvl pktvklfddm myeltsqarg lssqnleiqt tlrnilqtmv
       61 qllgaltgcv qhicatqesi ileniqslps svlhiikstf vhcknsesvy sgclhlvsdl
      121 lqalfkeays lqkqlmelld mvcmdplvdd nddilnmviv ihslldicsv issmdhafha
      181 ntwkfiikqs lkhqsiiksq lkhkdiitsl cedilfsfhs clqlaeqmtq sdaqdnadyr
      241 lfqktlklcr ffansllhya keflpflsds cctlhqlylq ihskfppsly atriskahqe
      301 eiagaflvtl dplisqlltf qpfmqvvlds kldlpcelqf pqclllvvvm dklpsqpkev
      361 qtlwctdsqv setttrisll kavfysfeqc sgelslpvhl qglkskgkae vavtlyqhvc
      421 vhlctfitsf hpslfaelda allnavlsan mitsllamda wcflarygta elcahhvtiv
      481 ahlikscpge cyqlinlsil lkrlfffmap phqlefiqkf spkeaenlpl wqhisfqalp
      541 pelreqtvhe vttvgtaecr kwlsrsrtlg eleslntvls allavcnsag ealdtgkqta
      601 iievvsqlwa flnikqvadq pyvqqtfsll lpllgffiqt ldpklilqav tlqtsllkle
      661 lpdyvrlaml dfvsslgklf ipeaiqdril pnlscmfall ladrswlleq htleaftqfa
      721 egtnheeivp qclsseetkn kvvsflektg fvdeteaakv ervkqekgif wepfanvtve
      781 eakrsslqpy akrarqefpw eeeyrsalht iagaleates llqkgpapaw lsmemealqe
      841 rmdklkryih tlg
//
LOCUS       XP_047282885             919 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing G-protein coupled receptor 6 isoform
            X6 [Homo sapiens].
ACCESSION   XP_047282885
VERSION     XP_047282885.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426929.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..919
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..919
                     /product="leucine-rich repeat-containing G-protein coupled
                     receptor 6 isoform X6"
                     /calculated_mol_wt=98802
     Region          34..68
                     /region_name="LRRNT"
                     /note="Leucine rich repeat N-terminal domain; smart00013"
                     /db_xref="CDD:214470"
     Region          60..>387
                     /region_name="PLN00113"
                     /note="leucine-rich repeat receptor-like protein kinase;
                     Provisional"
                     /db_xref="CDD:215061"
     Region          70..91
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          92..115
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          116..139
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          140..163
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          164..187
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          188..211
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          212..235
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          236..258
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          259..282
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          283..304
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          354..375
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          376..389
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          397..419
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          514..786
                     /region_name="7tmA_LGR6"
                     /note="leucine-rich repeats-containing G protein-coupled
                     receptor 6, the class A of 7-transmembrane GPCRs; cd15362"
                     /db_xref="CDD:320484"
     Region          515..541
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320484"
     Region          549..574
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320484"
     Site            order(570,573..574,594..599,601..602,605,650,652..656,680,
                     683..685,687..689,691..692,738,741..742,744..745,748,
                     757..758,760..762,765,768..769)
                     /site_type="other"
                     /note="putative peptide ligand binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:320484"
     Region          594..624
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320484"
     Region          636..658
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320484"
     Region          680..709
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320484"
     Region          718..748
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320484"
     Region          758..783
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320484"
     CDS             1..919
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /coded_by="XM_047426929.1:192..2951"
                     /db_xref="GeneID:59352"
                     /db_xref="HGNC:HGNC:19719"
                     /db_xref="MIM:606653"
ORIGIN      
        1 mpsppglral wlcaalcasr raggapqpgp gptacpapch cqedgimlsa dcselglsav
       61 pgdldpltay ldlsmnnlte lqpglfhhlr fleelrlsgn hlshipgqaf sglyslkilm
      121 lqnnqlggip aealwelpsl qslrldanli slvpersfeg lsslrhlwld dnalteipvr
      181 alnnlpalqa mtlalnrish ipdyafqnlt slvvlhlhnn riqhlgthsf eglhnletld
      241 lnynklqefp vairtlgrlq elgfhnnnik aipekafmgn pllqtihfyd npiqfvgrsa
      301 fqylpklhtl slngamdiqe fpdlkgttsl eiltltragi rllpsgmcqq lprlrvlels
      361 hnqieelpsl hrcqkleemd ltdnqlttlp laglgglmhl klkgnlalsq afskdsfpkl
      421 rilevpyayq ccpygmcasf fkasgqweae dlhlddeess krplgllarq aenhydqdld
      481 elqlemedsk phpsvqcspt pgpfkpceyl feswgirlav waivllsvlc nglvlltvfa
      541 ggpvplppvk fvvgaiagan tltgiscgll asvdaltfgq fseygarwet glgcratgfl
      601 avlgseasvl lltlaavqcs vsvscvrayg kspslgsvra gvlgclalag laaalplasv
      661 geygasplcl pyappegqpa algftvalvm mnsfcflvva gayiklycdl prgdfeavwd
      721 camvrhvawl ifadgllycp vaflsfasml glfpvtpeav ksvllvvlpl paclnpllyl
      781 lfnphfrddl rrlrpragds gplayaaage leksscdstq alvafsdvdl ileaseagrp
      841 pgletygfps vtliscqqpg aprlegshcv epegnhfgnp qpsmdgelll raegstpagg
      901 glsggggfqp sglafashv
//
LOCUS       XP_047286010             843 aa            linear   PRI 20-MAR-2023
DEFINITION  ecotropic viral integration site 5 protein homolog isoform X11
            [Homo sapiens].
ACCESSION   XP_047286010
VERSION     XP_047286010.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430054.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..843
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..843
                     /product="ecotropic viral integration site 5 protein
                     homolog isoform X11"
                     /calculated_mol_wt=96382
     Region          160..368
                     /region_name="TBC"
                     /note="Domain in Tre-2, BUB2p, and Cdc16p. Probable
                     Rab-GAPs; smart00164"
                     /db_xref="CDD:214540"
     Region          <405..712
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..843
                     /gene="EVI5"
                     /gene_synonym="EVI-5; NB4S"
                     /coded_by="XM_047430054.1:17..2548"
                     /db_xref="GeneID:7813"
                     /db_xref="HGNC:HGNC:3501"
                     /db_xref="MIM:602942"
ORIGIN      
        1 mvtnkmtaaf rnpsgkqvat dkvaeklsst lswvkntvsh tvsqmasqva spstslhtts
       61 ssttlstpal spsspsqlsp ddlellakle eqnrlletds kslrsvngsr rnsgsslvss
      121 ssassnlshl eedswilwgr ivnewedvrk kkekqvkelv hkgiphhfra ivwqllcsaq
      181 smpikdqyse llkmtspcek lirrdiarty pehnffkekd slgqevlfnv mkayslvdre
      241 vgycqgsafi vglllmqmpe eeafcvfvkl mqdyrlrelf kpsmaelglc myqfecmiqe
      301 hlpelfvhfq sqsfhtsmya sswfltiflt tfplpiatri fdifmsegle ivfrvglall
      361 qmnqaelmql dmegmlqhfq kviphqfdgv pdkliqaayq vkynskkmkk lekeyttikt
      421 kemeeqveik rlrtenrllk qrietlekhk cssnynedfv lqlekelvqa rlseaesqca
      481 lkemqdkvld iekrnnslpd enniarlqee liavklreae aimglkelrq qvkdleehwq
      541 rhlarttgrw kdppkknamn elqdelmtir lreaetqaei reikqrmmem etqnqinsnh
      601 lrraeqevis lqekvqylsa qnkglltqls eakrkqaeie cknkeevmav rlreadsiaa
      661 vaelrqhiae leiqkeegkl qgqlnksdsn qyigelkdqi aelnhegelg regrnvipdw
      721 hsphaegnlm sgkqhssptl rclkgqrgfs gqppfdgihi vnhligddes fhssdedfid
      781 nslqetgvgf plhgksgsms ldpavadgse setedsvlet resnqvvqke rpprrresys
      841 ttv
//
LOCUS       XP_016870978            2851 aa            linear   PRI 20-MAR-2023
DEFINITION  transforming acidic coiled-coil-containing protein 2 isoform X29
            [Homo sapiens].
ACCESSION   XP_016870978
VERSION     XP_016870978.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017015489.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2851
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..2851
                     /product="transforming acidic coiled-coil-containing
                     protein 2 isoform X29"
                     /calculated_mol_wt=299667
     Region          <24..488
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <1543..1944
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          2645..2845
                     /region_name="TACC"
                     /note="Transforming acidic coiled-coil-containing protein
                     (TACC); pfam05010"
                     /db_xref="CDD:428254"
     CDS             1..2851
                     /gene="TACC2"
                     /gene_synonym="AZU-1; ECTACC"
                     /coded_by="XM_017015489.1:125..8680"
                     /db_xref="GeneID:10579"
                     /db_xref="HGNC:HGNC:11523"
                     /db_xref="MIM:605302"
ORIGIN      
        1 mgnenstsdn qqedsvlhnv ilwppnpept qrtlsaqtpr saqppgnsqn ikrkqqdtpg
       61 spdhrdassi gsvglggfct asessasldp clvspevtep rkdpqgargp egsllpsppp
      121 sqerehpsss mpfaecppeg claspaaape dgpqtqsprr epapnapgdi aaafpaerds
      181 stpyqeiaav psagrerqpk eegqkssfsf ssgidqspgm spvplrepmk aplcgegdqp
      241 ggfesqekea aggfppaesr qgvasvqvtp eapaaaqqgt essavleksp lkpmapipqd
      301 paprasdrer gqgeappqyl tddleflrac hlprsnsgaa peaevnaasq escqqpvgay
      361 lphaelpwgl pspalvpeag gsgkealdti dvqghpqtgm rgtkpnqvvc vaaggqpegg
      421 lpvspepsll tpteeahpas slasfpaaqi piaveepgss sresvskagm pvsadaakev
      481 vdaglvgler qvsdlgskge hpegdpgevp apspqergeh lnteqshevq pgvpppplpk
      541 eqshevqpga pppplpkaps esargppgpt dgakvhedst spavakegsr spgdspggke
      601 eapeppdggd pgnlqgedsq afsskrdpev gkdelskpss daesrdhpss hsaqpprkgg
      661 aghtdgphsq taeadasglp hklgeedpvl ppvpdgagep tvpegaiweg sglqpkcpdt
      721 lqsreglgrm esfltlesek sdfpptpvae vapkaqeges tleirkmgsc dgeglltspd
      781 qprgpacdas rqefhagvph ppqgenlaad lgltalildq dqqgipscpg egwirgaase
      841 wpllssekhl qpsqaqpets ifdvlkeqaq ppengketsp shpgfkdqga dssqihvpve
      901 pqednnlpth ggqeqalgse lqsqlpkgtl sdtptssptd mvwessltee selsaptrqk
      961 lpalgekrpe gacgdgqssr vsppaadvlk dfslagnfsr ketcctgqgp nksqqalada
     1021 leegsqheea cqrhpgasea adgcsplwgl skremasgnt geappcqpds valldavpcl
     1081 palapaspgv tptqdapete acdetqegrq qpvpapqqkm ecwatsdaes pkllasfpsa
     1141 geqggeagaa etggsagagd pgkqqapekp geatlscgll qtehcltsge eastsalres
     1201 cqaehpmasc qdallparel ggiprstmdf sthqavpdpk elllsgppev aapdtpylhv
     1261 dsaaqrgaed sgvkavssad prapgespcp vgepplalen aaslklfags lapllqpgaa
     1321 ggeipavqas sgspkartte gpvdsmpcld rmpllakgkq atgeekaata pgagakasge
     1381 gmagdaaget egsmermgep sqdpkqgtsg gvdtsseqia tltgfpdfre hiakifekpv
     1441 lgalatpgek agagrsavgk dltrplgpek lldgppgvdv tllpapparl qvekkqqlag
     1501 eaeishlalq dpasdkllgp agltwernlp gagvgkemag vpptlreder pegpgaawpg
     1561 legqaysqle rsrqelasgl pspaatqelp veraaafqva phshgeeava qdripsgkqh
     1621 qetsacdsph gedgpgdfah tgvpghvprs tcapspqrev ltvpeansep wtldtlgger
     1681 rpgvtagile mrnalgnqst papptgevad tplepgkvag aageaegdit lstaetqaca
     1741 sgdlpeagtt rtfsvvagdl vlpgscqdpa csdkapgmeg taalhgdspa rpqqakeqpg
     1801 perpipagdg kvcvssppep dethdpklqh lapeelhtdr esprpgpsml psvpkkdapr
     1861 vmdkvtsdet rgaegterss dseeafetpe sttpvkappa ppppppevip epevstqppp
     1921 eepgcgsetv pvpdgprsds vegspfrpps hsfsavfded kpiassgtyn ldfdnielvd
     1981 tfqtlepras daknqegkvn trrkstdsvp iskstlsrsl slqasdfdga sssgnpeava
     2041 lapdaystgs ssasstlkrt kkprppslkk kqttkkptet ppvketqqep deeslvpsge
     2101 nlasetktes aktegpspal leetplepav gpkaacplds esaegvvppa sgggrvqnsp
     2161 pvgrktlplt tapeagevtp sdsggqedsp akglsvrlef dysedksswd nqqenppptk
     2221 kigkkpvakm plrrpkmkkt pekldntpas pprspaepnd ipiakgtytf didkwddpnf
     2281 npfsstskmq espklpqqsy nfdpdtcdes vdpfktsskt psspskspas feipasamea
     2341 ngvdgdglnk pakkkktplk tdtfrvkksp krsplsdpps qdptpaatpe tppvisavvh
     2401 atdeeklavt nqkwtcmtvd leadkqdypq psdlstfvne tkfsspteel dyrnsyeiey
     2461 mekigsslpq dddapkkqal ylmfdtsqes pvksspvrms esptpcsgss feetealvnt
     2521 aaknqhpvpr glapnqeshl qvpekssqke leamglgtps eaieitapeg sfasadalls
     2581 rlahpvslcg aldylepdla eknpplfaqk lqreaahptd vsisktalys rigtaevekp
     2641 agllfqqpdl dsalqiarae iitkerevse wkdkyeesrr evmemrkiva eyektiaqmi
     2701 edeqreksvs hqtvqqlvle keqaladlns veksladlfr ryekmkevle gfrkneevlk
     2761 rcaqeylsrv kkeeqryqal kvhaeekldr anaeiaqvrg kaqqeqaahq aslrkeqlrv
     2821 dalertleqk nkeieeltki cdeliakmgk s
//
LOCUS       XP_047281065             916 aa            linear   PRI 20-MAR-2023
DEFINITION  janus kinase and microtubule-interacting protein 3 isoform X5 [Homo
            sapiens].
ACCESSION   XP_047281065
VERSION     XP_047281065.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425109.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..916
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..916
                     /product="janus kinase and microtubule-interacting protein
                     3 isoform X5"
                     /calculated_mol_wt=105668
     Region          27..757
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          355..551
                     /region_name="JAKMIP_CC3"
                     /note="JAKMIP CC3 domain; pfam16034"
                     /db_xref="CDD:435088"
     CDS             1..916
                     /gene="JAKMIP3"
                     /gene_synonym="bA140A10.5; C10orf14; C10orf39; Jamip3;
                     NECC2"
                     /coded_by="XM_047425109.1:183..2933"
                     /db_xref="GeneID:282973"
                     /db_xref="HGNC:HGNC:23523"
                     /db_xref="MIM:611198"
ORIGIN      
        1 mskrgmssra kgdkaealaa lqaanedlra kltdiqielq qekskvskve reknqelrqv
       61 reheqhktav lltelktklh eekmkelqav retllrqhea ellrvikikd nenqrlqall
      121 salrdggpek vktvllseak eeakkgfeve kvkmqqeise lkgakrqvee altlviqadk
      181 ikaaeirsvy hlhqeeitri kkecereirr lqldekdarr fqlkiaelsa iirkledrna
      241 llseernell krvreaesqy kplldknkrl srknedlsha lrrmenklkf vtqeniemrq
      301 ragiirrpss lndldqsqde revdflklqi veqqnlidel sktletagyv ksvlerdkll
      361 rfrkqrkkma klpkpvvvet ffgydeeasl esdgssvsyq tdrtdqtpct pdddleegma
      421 keetelrfrq ltmeyqalqr ayallqeqvg gtldaerevk treqlqaevq raqariedle
      481 kalaeqgqdm kwieekqaly rrnqelveki kqmeteearl rhevqdardq nellefrile
      541 leererkspa isfhhtpfvd gksplqvyce aegvtdivva elmkkldilg dnavsnltne
      601 eqvvviqart vltlaekwlq qieeteaalq rkmvdlesek elfskqkgyl deeldyrkqa
      661 ldqankhile leamlydalq qeagakvael lseeereklk vaveqwkrqv mselrerdaq
      721 ilrermellq laqqrikele erieaqkrqi keleeklsfs ghspswhpdv phiesdpfpp
      781 vgpesrdkmg rrvsilktqg dlvsarpsrg grvrrgsvwg velpstwdvp elelalptsr
      841 gllrdgpglg cwtlgpfsrt aapipfpgmc sipcqagvrt asvqkhqprv pssllvltva
      901 atgvwrkifr nnrgla
//
LOCUS       XP_011543138             998 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA damage-induced apoptosis suppressor protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_011543138
VERSION     XP_011543138.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544836.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..998
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..998
                     /product="DNA damage-induced apoptosis suppressor protein
                     isoform X1"
                     /calculated_mol_wt=111486
     Region          8..>130
                     /region_name="RPA_2b-aaRSs_OBF_like"
                     /note="Replication protein A, class 2b aminoacyl-tRNA
                     synthetases, and related proteins with
                     oligonucleotide/oligosaccharide (OB) fold; cl09930"
                     /db_xref="CDD:447862"
     CDS             1..998
                     /gene="DDIAS"
                     /gene_synonym="C11orf82; noxin"
                     /coded_by="XM_011544836.3:231..3227"
                     /db_xref="GeneID:220042"
                     /db_xref="HGNC:HGNC:26351"
                     /db_xref="MIM:618045"
ORIGIN      
        1 mnrrrkflla svlalqnssf iypscqkcfs riilvskrsn cpkcgstges gnanyrykls
       61 lkvaesnklf vitvfgscld tffgltatgl hryiqdpnki petldndttq nlltkavetc
      121 fvgqsfifgv tnfenqpgqg sdasnflqqc sdhkrkakal vacqivlpdp giagftvidy
      181 fhqllqtfnf rklqcdsqap nnhllaldhs nsdlssiyts dstsdffksc skdtfskfwq
      241 psleftcivs qltdnddfsa seqskafgtl qqnrksisia eatgssschd piqdswslvs
      301 ymdkkstaek lgkelglqak elsavhsshh eigvndsnlf slemreples sntksfhsav
      361 eiknrsqhel pcfqhhgidt ptslqkrsac cppsllrlee tasssqdgdp qiwddlpfse
      421 slnkflavle seiavtqadv ssrkhhvdnd idkfhadhsr lsvtpqrttg alhtppialr
      481 ssqvivkanc skddflfnck gnlspsveke sqpdnkveav svnhngrdms eyflpnpyls
      541 alsssskdle tivtlkktir isphresdhs slnnkylngc geisvsemne klttlcyrky
      601 ndvsdlckle nkqycrwskn qddsfticrk ltypletlcn spnrstntlk empwghinnn
      661 vtqsysigye gsydasadlf ddiakemdia teitkksqdi llkwgtslae shpsesdfsl
      721 rslsedfiqp sqklslqsls dsrhsrtcsp tphfqsdsey nfensqdfvp csqstpisgf
      781 hqtrihginr afkkpvfysd ldgnyekiri fpendkqqas pscpkniktp sqkirspivs
      841 gvsqpdvfnh ypfaechetd sdewvppttq kifpsdmlgf qgiglgkcla ayhfpdqqel
      901 prkklkhirq gtnkglikkk lknmlaavvt kkkthkynck ssgwiskcpd iqvlaapqlh
      961 pilgpdscse vkcclpfsek gppsvcetrs awspelfs
//
LOCUS       XP_016873332             420 aa            linear   PRI 20-MAR-2023
DEFINITION  NADPH oxidase 4 isoform X1 [Homo sapiens].
ACCESSION   XP_016873332
VERSION     XP_016873332.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017843.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..420
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..420
                     /product="NADPH oxidase 4 isoform X1"
                     /calculated_mol_wt=48375
     Region          90..226
                     /region_name="Ferric_reduct"
                     /note="Ferric reductase like transmembrane component;
                     pfam01794"
                     /db_xref="CDD:426438"
     Region          340..>399
                     /region_name="FNR_like"
                     /note="Ferredoxin reductase (FNR), an FAD and NAD(P)
                     binding protein, was intially identified as a chloroplast
                     reductase activity, catalyzing the electron transfer from
                     reduced iron-sulfur protein ferredoxin to NADP+ as the
                     final step in the electron transport...; cl06868"
                     /db_xref="CDD:447143"
     Site            order(359,373..376,391..393,396..399)
                     /site_type="other"
                     /note="FAD binding pocket [chemical binding]"
                     /db_xref="CDD:99778"
     Site            order(373,375..376)
                     /site_type="other"
                     /note="conserved FAD binding motif [chemical binding]"
                     /db_xref="CDD:99778"
     CDS             1..420
                     /gene="NOX4"
                     /gene_synonym="KOX; KOX-1; RENOX"
                     /coded_by="XM_017017843.3:7..1269"
                     /db_xref="GeneID:50507"
                     /db_xref="HGNC:HGNC:7891"
                     /db_xref="MIM:605261"
ORIGIN      
        1 mgemwrkree vifreysfsf yplnifapfv lfpdyfcllg fiwlsmnvll fwktfllynq
       61 gpeyhylhqm lglglclsra sasvlnlncs lillpmcrtl laylrgsqkv psrrtrrlld
      121 ksrtfhitcg vticifsgvh vaahlvnaln fsvnysedfv elnaaryrde dprkllfttv
      181 pgltgvcmvv vlflmitast yairvsnydi fwythnlffv fymlltlhvs ggllkyqtnl
      241 dthppgcisl nrtssqnisl peyfsehfhe pfpegfskpa eftqhkfvki cmeeprfqan
      301 fpqtwlwisg plclycaerl yryirsnkpv tiisvmshps dvmeirmvke nfkarpgqyi
      361 tlhcpsvsal enhpftltmc ptetkatfgv hlkivgdwtg kkkvkggrge kgvlyilgre
//
LOCUS       XP_047283133             471 aa            linear   PRI 20-MAR-2023
DEFINITION  protein phosphatase Slingshot homolog 3 isoform X1 [Homo sapiens].
ACCESSION   XP_047283133
VERSION     XP_047283133.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427177.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..471
                     /product="protein phosphatase Slingshot homolog 3 isoform
                     X1"
                     /calculated_mol_wt=52582
     Region          3..259
                     /region_name="SSH-N"
                     /note="N-terminal domain conserved in slingshot (SSH)
                     phosphatases; cd11652"
                     /db_xref="CDD:212166"
     Region          272..322
                     /region_name="DEK_C"
                     /note="DEK C terminal domain; pfam08766"
                     /db_xref="CDD:430201"
     Region          326..469
                     /region_name="DSP_slingshot_3"
                     /note="dual specificity phosphatase domain of slingshot
                     homolog 3; cd14571"
                     /db_xref="CDD:350419"
     Site            order(413,419)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:350419"
     CDS             1..471
                     /gene="SSH3"
                     /gene_synonym="SSH3L"
                     /coded_by="XM_047427177.1:97..1512"
                     /db_xref="GeneID:54961"
                     /db_xref="HGNC:HGNC:30581"
                     /db_xref="MIM:606780"
ORIGIN      
        1 malvtvsrsp pgsgastpvg pwdqavqrrs rlqrrqsfav lrgavlglqd ggdnddaaea
       61 sseptekaps eeelhgdqtd fgqgsqspqk qeeqrqhlhl mvqllrpqdd irlaaqleap
      121 rpprlryllv vstregegls qdetvllgvd fpdssspsct lglvlplwsd tqvyldgdgg
      181 fsvtsggqsr ifkpisiqtm watlqvlhqa ceaalgsglv pggsaltwas hyqerlnseq
      241 sclnewtama dleslrppsa epggsseqeq meqairaelw kvldvsdles vtskeirqal
      301 elrlglplqq yrdfidnqml llvaqrdras rifphlylgs ewnaanleel qrnrvthiln
      361 mareidnfyp erftyhnvrl wdeesaqllp hwkethrfie aaraqgthvl vhckmgvsrs
      421 aatvlayamk qyecsleqal rhvqelrpia rpnpgflrql qiyqgiltar t
//
LOCUS       XP_011518772             335 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc transporter ZIP13 isoform X7 [Homo sapiens].
ACCESSION   XP_011518772
VERSION     XP_011518772.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011520470.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..335
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..335
                     /product="zinc transporter ZIP13 isoform X7"
                     /calculated_mol_wt=35460
     Region          65..329
                     /region_name="Zip"
                     /note="ZIP Zinc transporter; pfam02535"
                     /db_xref="CDD:396884"
     CDS             1..335
                     /gene="SLC39A13"
                     /gene_synonym="EDSSPD3; LZT-Hs9; SCDEDS; ZIP13"
                     /coded_by="XM_011520470.2:82..1089"
                     /db_xref="GeneID:91252"
                     /db_xref="HGNC:HGNC:20859"
                     /db_xref="MIM:608735"
ORIGIN      
        1 mpgcpcpgcg magprllflt alalellera ggsqpalrsr gtatacrldn keseswgall
       61 sgerldtwic sllgslmvgl sgvfpllvip lemgtmlrse agawrlkqll sfalggllgn
      121 vflhllpeaw aytcsaspgg egqslqqqqq lglwviagil tflalekmfl dskeegtsqv
      181 sgylnllant idnfthglav aasflvskki gllttmaill heiphevgdf aillragfdr
      241 wsaaklqlst alggllgagf aictqspkgv vgcspaaeet aawvlpftsg gflyialvnv
      301 lpdlleeedp wrslqqllll cagivvmvlf slfvd
//
LOCUS       XP_016874083             399 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 57 kDa isoform X5 [Homo sapiens].
ACCESSION   XP_016874083
VERSION     XP_016874083.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017018594.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..399
                     /product="centrosomal protein of 57 kDa isoform X5"
                     /calculated_mol_wt=45280
     Region          68..194
                     /region_name="Cep57_CLD"
                     /note="Centrosome localization domain of Cep57; pfam14073"
                     /db_xref="CDD:433695"
     Region          247..320
                     /region_name="Cep57_MT_bd"
                     /note="Centrosome microtubule-binding domain of Cep57;
                     pfam06657"
                     /db_xref="CDD:429054"
     CDS             1..399
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /coded_by="XM_017018594.3:202..1401"
                     /db_xref="GeneID:9702"
                     /db_xref="HGNC:HGNC:30794"
                     /db_xref="MIM:607951"
ORIGIN      
        1 maaasvsaas gshlsnsfae psrsngsmvr hssspyvvyp sdkpflnsdl rrspskptla
       61 ypesnsraif salknlqdki rrleleriqa eesvktlsre tieykkvlde qiqerenskn
      121 eeskhnqelt sqllaaenkc nllekqleym rnmikhaeme rtsvlekqkk mqeleaklhe
      181 eeqerkrmqa kaaestspsh avvanvqlvl hlmkqhskal cndrvinsip lakqvssrgg
      241 kskklsvtpp ssngineels evlqtlqdef gqmsfdhqql akliqesptv elkdklecel
      301 ealvgrmeak anqitkvrky qaqlekqkle kqkkelkatk ktldeernss srsgitgttn
      361 kkdfmklrpg ekrrknlqll kdmqsiqnsl qssslcwdy
//
LOCUS       XP_011536092            1638 aa            linear   PRI 20-MAR-2023
DEFINITION  citron Rho-interacting kinase isoform X11 [Homo sapiens].
ACCESSION   XP_011536092
VERSION     XP_011536092.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011537790.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1638
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1638
                     /product="citron Rho-interacting kinase isoform X11"
                     /calculated_mol_wt=188108
     Region          28..889
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          955..1010
                     /region_name="CRIK"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in citron Rho-interacting kinase (CRIK) and similar
                     proteins; cd20814"
                     /db_xref="CDD:410364"
     Region          1040..1159
                     /region_name="PH"
                     /note="PH domain; pfam00169"
                     /db_xref="CDD:395117"
     Region          1204..1500
                     /region_name="CNH"
                     /note="Domain found in NIK1-like kinases, mouse citron and
                     yeast ROM1, ROM2; smart00036"
                     /db_xref="CDD:214481"
     Region          <1516..>1605
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     CDS             1..1638
                     /gene="CIT"
                     /gene_synonym="CITK; CRIK; MCPH17; STK21"
                     /coded_by="XM_011537790.2:125..5041"
                     /db_xref="GeneID:11113"
                     /db_xref="HGNC:HGNC:1985"
                     /db_xref="MIM:605629"
ORIGIN      
        1 mekklliksk elqdsqdkch kmeqemtrlh rrvseveavl sqkevelkas etqrslleqd
       61 latyitecss lkrsleqarm evsqeddkal qllhdireqs rklqeikeqe yqaqveemrl
      121 mmnqleedlv sarrrsdlye selresrlaa eefkrkatec qhkllkakdq gkpevgeyak
      181 lekinaeqql kiqelqekle kavkasteat ellqnirqak eraerelekl qnredssegi
      241 rkklveaeer rhslenkvkr letmerrenr lkddiqtksq qiqqmadkil eleekhreaq
      301 vsaqhlevhl kqkeqhyeek ikvldnqikk dladketlen mmqrheeeah ekgkilseqk
      361 aminamdski rsleqrivel seanklaans slftqrnmka qeemiselrq qkfyletqag
      421 kleaqnrkle eqlekishqd hsdknrllel etrlrevsle heeqklelkr qltelqlslq
      481 eresqltalq aaraalesql rqakteleet taeaeeeiqa ltahrdeiqr kfdalrnsct
      541 vitdleeqln qltednaeln nqnfylskql deasgandei vqlrsevdhl rreiteremq
      601 ltsqkqtmea lkttctmlee qvmdlealnd ellekerqwe awrsvlgdek sqfecrvrel
      661 qrmldtekqs raradqrite srqvvelavk ehkaeilalq qalkeqklka eslsdklndl
      721 ekkhamlemn arslqqklet erelkqrlle eqaklqqqmd lqknhifrlt qglqealdra
      781 dllktersdl eyqleniqvl yshekvkmeg tisqqtklid flqakmdqpa kkkkglfsrr
      841 kedpalptqv plqynelkla lekekarcae leealqktri elrsareeaa hrkatdhphp
      901 stpatarqqi amsaivrspe hqpsamslla ppssrrkess tpeefsrrlk ermhhniphr
      961 fnvglnmrat kcavcldtvh fgrqaskcle cqvmchpkcs tclpatcglp aeyathftea
     1021 fcrdkmnspg lqtkepsssl hlegwmkvpr nnkrgqqgwd rkyivlegsk vliydneare
     1081 agqrpveefe lclpdgdvsi hgavgasela ntakadvpyi lkmeshphtt cwpgrtlyll
     1141 apsfpdkqrw vtalesvvag grvsrekaea daardcvsye llpawvqkll gnsllklegd
     1201 drldmnctlp fsdqvvlvgt eeglyalnvl knslthvpgi gavfqiyiik dlekllmiag
     1261 eeralclvdv kkvkqslaqs hlpaqpdisp nifeavkgch lfgagkieng lcicaampsk
     1321 vvilrynenl skycirkeie tsepcscihf tnysiligtn kfyeidmkqy tleefldknd
     1381 hslapavfaa ssnsfpvsiv qvnsagqree yllcfhefgv fvdsygrrsr tddlkwsrlp
     1441 lafayrepyl fvthfnslev ieiqarssag tparayldip nprylgpais sgaiylassy
     1501 qdklrvicck gnlvkesgte hhrgpstsrs spnkrgppty nehitkrvas spappegpsh
     1561 prepstphry regrtelrrd kspgrplere kspgrmlstr rerspgrlfe dssrgrlpag
     1621 avrtplsqvn kvwdqssv
//
LOCUS       XP_016874275            1524 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat serine/threonine-protein kinase 2 isoform X8
            [Homo sapiens].
ACCESSION   XP_016874275
VERSION     XP_016874275.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017018786.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1524
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1524
                     /product="leucine-rich repeat serine/threonine-protein
                     kinase 2 isoform X8"
                     /calculated_mol_wt=171980
     Region          985..1012
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1013..1036
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <1015..>1261
                     /region_name="PRK15370"
                     /note="type III secretion system effector E3 ubiquitin
                     transferase SlrP"
                     /db_xref="CDD:185268"
     Region          1037..1084
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1085..1108
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1109..1130
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1131..1174
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1175..1197
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1198..1221
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1222..1246
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <1244..>1300
                     /region_name="PLN03150"
                     /note="hypothetical protein; Provisional"
                     /db_xref="CDD:178695"
     Region          1247..1269
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1334..1507
                     /region_name="RocCOR"
                     /note="Ras of complex proteins (Roc) C-terminal of Roc
                     (COR) domain family; cd09914"
                     /db_xref="CDD:206741"
     Site            1341..1348
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206741"
     Site            order(1346..1349,1397,1452..1453,1455,1489..1491)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206741"
     Site            1368
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206741"
     Site            1372..1374
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206741"
     Site            1394..1397
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206741"
     Site            order(1396..1397,1413..1414)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206741"
     Site            1452..1455
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206741"
     Site            1489..1491
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206741"
     CDS             1..1524
                     /gene="LRRK2"
                     /gene_synonym="AURA17; DARDARIN; PARK8; RIPK7; ROCO2"
                     /coded_by="XM_017018786.3:136..4710"
                     /db_xref="GeneID:120892"
                     /db_xref="HGNC:HGNC:18618"
                     /db_xref="MIM:609007"
ORIGIN      
        1 masgscqgce edeetlkkli vrlnnvqegk qietlvqile dllvftyser asklfqgkni
       61 hvpllivlds ymrvasvqqv gwsllcklie vcpgtmqslm gpqdvgndwe vlgvhqlilk
      121 mltvhnasvn lsviglktld llltsgkitl lildeesdif mlifdamhsf pandevqklg
      181 ckalhvlfer vseeqltefv enkdymills altnfkdeee ivlhvlhclh slaipcnnve
      241 vlmsgnvrcy nivveamkaf pmseriqevs ccllhrltlg nffnilvlne vhefvvkavq
      301 qypenaalqi salsclallt etiflnqdle eknenqendd egeedklfwl eacykaltwh
      361 rknkhvqeaa cwalnnllmy qnslhekigd edghfpahre vmlsmlmhss skevfqasan
      421 alstlleqnv nfrkillskg ihlnvlelmq khihspevae sgckmlnhlf egsntsldim
      481 aavvpkiltv mkrhetslpv qlealrailh fivpgmpees redtefhhkl nmvkkqcfkn
      541 dihklvlaal nrfignpgiq kcglkvissi vhfpdaleml slegamdsvl htlqmypddq
      601 eiqclglsli gylitkknvf igtghllaki lvsslyrfkd vaeiqtkgfq tilailklsa
      661 sfskllvhhs fdlvifhqms snimeqkdqq flnlcckcfa kvamddylkn vmleracdqn
      721 nsimveclll lgadanqake gsslicqvce kesspklvel llnsgsreqd vrkaltisig
      781 kgdsqiisll lrrlaldvan nsiclggfci gkvepswlgp lfpdktsnlr kqtniastla
      841 rmviryqmks aveegtasgs dgnfsedvls kfdewtfipd ssmdsvfaqs ddldsegseg
      901 sflvkkksns isvgefyrda vlqrcspnlq rhsnslgpif dhedllkrkr kilssddslr
      961 ssklqshmrh sdsisslase reyitsldls anelrdidal sqkccisvhl ehleklelhq
     1021 naltsfpqql cetlkslthl dlhsnkftsf psyllkmsci anldvsrndi gpsvvldptv
     1081 kcptlkqfnl synqlsfvpe nltdvvekle qlilegnkis gicsplrlke lkilnlsknh
     1141 isslsenfle acpkvesfsa rmnflaampf lppsmtilkl sqnkfscipe ailnlphlrs
     1201 ldmssndiqy lpgpahwksl nlrellfshn qisildlsek aylwsrvekl hlshnklkei
     1261 ppeigclenl tsldvsynle lrsfpnemgk lskiwdlpld elhlnfdfkh igckakdiir
     1321 flqqrlkkav pynrmklmiv gntgsgkttl lqqlmktkks dlgmqsatvg idvkdwpiqi
     1381 rdkrkrdlvl nvwdfagree fysthphfmt qralylavyd lskgqaevda mkpwlfnika
     1441 rassspvilv gthldvsdek qrkacmskit kellnkrgfp airdyhfvna teesdalakl
     1501 rktiinesln fkesffifkt qhcs
//
LOCUS       XP_047284596             270 aa            linear   PRI 20-MAR-2023
DEFINITION  single-strand selective monofunctional uracil DNA glycosylase
            isoform X1 [Homo sapiens].
ACCESSION   XP_047284596
VERSION     XP_047284596.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428640.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..270
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..270
                     /product="single-strand selective monofunctional uracil
                     DNA glycosylase isoform X1"
                     /calculated_mol_wt=29731
     Region          29..258
                     /region_name="UDG-F3_SMUG1-like"
                     /note="Uracil DNA glycosylase family 3 subfamily, includes
                     single-strand-selective monofunctional uracil-DNA
                     glycosylase 1 and similar proteins; cd19374"
                     /db_xref="CDD:381689"
     Site            order(83..87,97..98,135,163,239)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:381689"
     Region          83..87
                     /region_name="motif A"
                     /note="motif A [structural motif]"
                     /db_xref="CDD:381689"
     Site            87
                     /site_type="other"
                     /note="substrate specificity residue"
                     /db_xref="CDD:381689"
     Site            order(184,214..216,239,241,243)
                     /site_type="active"
                     /db_xref="CDD:381689"
     CDS             1..270
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /coded_by="XM_047428640.1:258..1070"
                     /db_xref="GeneID:23583"
                     /db_xref="HGNC:HGNC:17148"
                     /db_xref="MIM:607753"
ORIGIN      
        1 mpqafllgsi hepagalmep qpcpgslaes fleeelrlna elsqlqfsep vgiiynpvey
       61 awephrnyvt rycqgpkevl flgmnpgpfg maqtgvpfge vsmvrdwlgi vgpvltppqe
      121 hpkrpvlgle cpqsevsgar fwgffrnlcg qpevffhhcf vhnlcpllfl apsgrnltpa
      181 elpakqreql lgicdaalcr qvqllgvrlv vgvgrlaeqr arralaglmp evqvegllhp
      241 sprnpqankg weavakerln elgllplllk
//
LOCUS       XP_024305103             575 aa            linear   PRI 20-MAR-2023
DEFINITION  microtubule-associated tumor suppressor candidate 2 isoform X5
            [Homo sapiens].
ACCESSION   XP_024305103
VERSION     XP_024305103.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024449335.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..575
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..575
                     /product="microtubule-associated tumor suppressor
                     candidate 2 isoform X5"
                     /calculated_mol_wt=64989
     Region          37..>182
                     /region_name="PHA03381"
                     /note="tegument protein VP22; Provisional"
                     /db_xref="CDD:177618"
     Region          <272..>535
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     CDS             1..575
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /coded_by="XM_024449335.2:123..1850"
                     /db_xref="GeneID:23281"
                     /db_xref="HGNC:HGNC:20595"
                     /db_xref="MIM:619358"
ORIGIN      
        1 mlqnpisrnl vsvlpdthvs rqpnwrhlal sgapaspqsp apspgtvhsq sragqppefh
       61 lngtmqyvvs fvwhlslmll rliclvagst fgneeqpvlk aslpskdtpk gagrvappas
      121 ssvtaprrsl lpapkststp agtkkdaqkd qdtnkpavss pkrvaasttk lhspgypkqr
      181 taaarngfpp kpdpqareae rqlvlrlker ceqqtrqlgv aqgelkraic gfdalavatq
      241 hffrknesal vkekelsiel anirdevafh takceklqke keelerrfed evkrlgwqqq
      301 aelqeleerl qlqfeaemar lqeehgdqll sircqhqeqv edltashdaa llemennhtv
      361 aitilqddhd hkvqelmsth elekkeleen feklrlslqd qvdtltfqsq slrdrarrfe
      421 ealrknteeq leialapyqh leedmkslkq vlemknqqih eqekkilele klaekniile
      481 ekiqvlqqqn edlkaridqn tvvtrqlsee nanlqeyvek etqekkrlsr tneellwklq
      541 tgdptspikl sptspvyrgs ssgpssparv sttpr
//
LOCUS       XP_047288265            1549 aa            linear   PRI 20-MAR-2023
DEFINITION  MAX gene-associated protein isoform X28 [Homo sapiens].
ACCESSION   XP_047288265
VERSION     XP_047288265.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432309.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1549
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1549
                     /product="MAX gene-associated protein isoform X28"
                     /calculated_mol_wt=172490
     Region          75..260
                     /region_name="T-box_MGA-like"
                     /note="DNA-binding domain of MAX gene-associated protein
                     and related T-box proteins; cd20195"
                     /db_xref="CDD:410321"
     Site            order(102..103,136,180,183,196..197,237..240,245,248..249,
                     252..258)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410321"
     Region          1041..1082
                     /region_name="DUF4801"
                     /note="Domain of unknown function (DUF4801); pfam16059"
                     /db_xref="CDD:435106"
     CDS             1..1549
                     /gene="MGA"
                     /gene_synonym="MAD5; MXD5"
                     /coded_by="XM_047432309.1:189..4838"
                     /db_xref="GeneID:23269"
                     /db_xref="HGNC:HGNC:14010"
                     /db_xref="MIM:616061"
ORIGIN      
        1 meekqqiila nqdggtvaga aptffvilkq pgngktdqgi lvtnqdacal assvsspvks
       61 kgkiclpadc tvggitvtld nnsmwnefyh rstemiltkq grrmfpycry witgldsnlk
      121 yilvmdispv dnhrykwngr wwepsgkaep hvlgrvfihp espstghywm hqpvsfyklk
      181 ltnntldqeg hiilhsmhry lprlhlvpae kaveviqlng pgvhtftfpq teffavtayq
      241 niqitqlkid ynpfakgfrd dglnnkpqrd gkqknssdqe gnnissssgh rvrltegqgs
      301 eiqpgdldpl srghetsgkg lektslnikr dflgfmdtds alsevpqlkq eisecliass
      361 feddsrvasp ldqngsfnvv ikeeplddyd yelgecpegv tvkqeetdee tdvysnsddd
      421 pilekqlkrh nkvdnpeadh lsskwlpssp sgvakakmfk ldtgkmpvvy lepcavtrst
      481 vkiselpdnm lstsrkdkss mlaeleylpt yiensnetaf clgkesengl rkhspdlrvv
      541 qkypllkepq wkypdisdsi sterilddsk dsvgdslsgk edlgrkrttm lkiataakvv
      601 nanqnaspnv pgkrgrprkl klckagrppk ntgkslistk ntpvspgstf pdvkpdledv
      661 dgvlfvsfes kealdihavd gtteessslq asttndsgyr arisqlekel iedlktlrhk
      721 qvihpglqev glklnsvdpt msidlkylgv qlplapatsf pfwnltgtnp aspdagfpfv
      781 srtgktndft kikgwrgkfh sasasrnegg nsesslknrs afcsdkldey lenegklmet
      841 smgfssnapt spvvyqlptk stsyvrtlds vlkkqstisp stsyslkphs vppvsrkaks
      901 qnrqatfsgr tkssyksilp ypvspkqkys hvilgdkvtk nssgiisenq annfvvptld
      961 enifpkqisl rqaqqqqqqq qgsrppglsk sqvklmdled calwegkprt yiteeradvs
     1021 lttlltaqas lktkpihtii rkrappcnnd fcrlgcvcss lalekrqpah crrpdcmfgc
     1081 tclkrkvvlv kggsktkhfq rkaahrdpvf ydtlgeeare eeegireeee qlkekkkrkk
     1141 leyticetep eqpvrhyplw vkvegevdpe pvyiptpsvi epmkplllpq pevlsptvkg
     1201 klltgikspr sytpkpnpvi reedkdpvyl yfesmmtcar vrvyerkked qrqpsssssp
     1261 spsfqqqtsc hsspenhnna kepdseqqpl kqltcdledd sdklqekswk sscnegesss
     1321 tsymhqrspg gptklieiis dcnweedrnk ilsilsqhin snmpqslkvg sfiielasqr
     1381 ksrgeknppv yssrvkismp scqdqddmae ksgsetpdgp lspgkmedis pvqtdaldsv
     1441 rerlhggkgl pfyaglspag klvaykrkps sstsgliqyc hlqgsiqcqg gciqettypv
     1501 afniqfqngi llwhcnkspw eesegvcpsk tancgstlsw wcvhtvcde
//
LOCUS       XP_016877711            2214 aa            linear   PRI 20-MAR-2023
DEFINITION  protein unc-13 homolog C isoform X1 [Homo sapiens].
ACCESSION   XP_016877711
VERSION     XP_016877711.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017022222.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 24% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2214
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..2214
                     /product="protein unc-13 homolog C isoform X1"
                     /calculated_mol_wt=250782
     Region          1079..1160
                     /region_name="C1_Munc13-2-like"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in Munc13-2, Munc13-3 and similar proteins; cd20859"
                     /db_xref="CDD:410409"
     Site            order(1103..1109,1117..1121,1124)
                     /site_type="other"
                     /note="putative DAG/PE binding site [chemical binding]"
                     /db_xref="CDD:410409"
     Region          1220..1346
                     /region_name="C2B_Munc13"
                     /note="C2 domain second repeat in Munc13 (mammalian
                     uncoordinated) proteins; cd04027"
                     /db_xref="CDD:175993"
     Site            order(1236,1242,1288,1290,1307)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:175993"
     Region          1540..2028
                     /region_name="DUF1041"
                     /note="Domain of Unknown Function (DUF1041); pfam06292"
                     /db_xref="CDD:428871"
     Region          2062..2181
                     /region_name="C2C_Munc13"
                     /note="C2 domain third repeat in Munc13 (mammalian
                     uncoordinated) proteins; cd08395"
                     /db_xref="CDD:176041"
     CDS             1..2214
                     /gene="UNC13C"
                     /coded_by="XM_017022222.2:621..7265"
                     /db_xref="GeneID:440279"
                     /db_xref="HGNC:HGNC:23149"
                     /db_xref="MIM:614568"
ORIGIN      
        1 mvanffksli lpyihklckg mftkklgntn knkeyrqqkk dqdfptagqt kspkfsytfk
       61 stvkkiakcs sthnlsteed easkefslsp tfsyrvaian glqknakvtn sdnedllqel
      121 ssiessyses lnelrssten qaqsthtmpv rrnrkssssl apsegssdge rtlhglklga
      181 lrklrkwkks qecvssdsel stmkkswgir sksldrtvrn pktnalepgf sssgcisqth
      241 dvmemifkel qgisqietel selrghvnal khsideisss vevvqseieq lrtgfvqsrr
      301 etrdihdyik hlghmgskas lrflnvteer feyvesvvyq ilidkmgfsd apnaikiefa
      361 qrighqrdcp nakprpilvy fetpqqrdsv lkksyklkgt gigistdilt hdirerkekg
      421 ipssqtyesm aiklstpepk ikknnwqspd dsdedlesdl nrnsyavlsk selltkgsts
      481 kpsskshsar sknktanssr isnksdydki ssqlpesdil ekqttthyad atplwhsqsd
      541 fftaklsrse sdfsklcqsy sedfsenqff trtngsslls ssdrelwqrk qegtatlyds
      601 pkdqhlnggv qgiqgqtete ntetvdsgms ngmvcasgdr shysdsqlsl hedlspwkew
      661 nqgadlglds stqegfdyet nslfdqqldv ynkdleylgk chsdlqddse sydltqddns
      721 spcpgldnep qgqwvgqyds yqgansnely qnqnqlsmmy rsqselqsdd sedappkswh
      781 srlsidlsdk tfsfpkfgst lqraksalev vwnkstqsls gyedsgsslm grfrtlsqst
      841 anessttlds dvytepyyyk aedeedytep vadnetdyve vmeqvlakle nrtsitetde
      901 qmqaydhlsy etpyetpqde gydgpaddmv seegleplne tsaemeired enqnipeqpv
      961 eitkpkrirp sfkeaalray kkqmaeleek ilagdsssvd ekarivsgnd ldaskfsalq
     1021 vcggagggly gidsmpdlrr kktlpivrdv amtlaarksg lslamvirts lnneelkmhv
     1081 fkktlqaliy pmsstiphnf evwtattpty cyecegllwg iarqgmkcle cgvkchekcq
     1141 dllnadclqr aaeksskhga edktqtiita mkermkirek nrpevfeviq emfqiskedf
     1201 vqftkaakqs vldgtskwsa kititvvsaq glqakdktgs sdpyvtvqvg knkrrtktif
     1261 gnlnpvwdek fyfechnstd rikvrvwded ddiksrvkqh fkkesddflg qtivevrtls
     1321 gemdvwynle krtdksavsg airlkinvei kgeekvapyh iqytclhenl fhyltevksn
     1381 ggvkipevkg deawkvffdd asqeivdefa mrygiesiyq amthfsclss kymcpgvpav
     1441 mstllanina fyahttvstn iqvsasdrfa atnfgrekfi klldqlhnsl ridlskyren
     1501 fpasnterlq dlkstvdllt sitffrmkvl elqsppkasm vvkdcvracl dstykyifdn
     1561 chelysqltd pskkqdipre dqgpttknld fwpqlitlmv tiidedktay tpvlnqfpqe
     1621 lnmgkisaei mwtlfaldmk yaleehenqr lckstdymnl hfkvkwfyne yvrelpafkd
     1681 avpeyslwfe pfvmqwlden edvsmeflhg algrdkkdgf qqtsehalfs csvvdvfaql
     1741 nqsfeiikkl ecpnpealsh lmrrfaktin kvllqyaaiv ssdfsshcdk envpcilmnn
     1801 iqqlrvqlek mfesmggkel dseastilke lqvklsgvld elsvtygesf qviieecikq
     1861 msfelnqmra ngnttsnkns aamdaeivlr slmdfldktl slsakicekt vlkrvlkelw
     1921 klvlnkiekq ivlppltdqt gpqmifiaak dlgqlsklke hmiredargl tprqcaimev
     1981 vlatikqyfh aggnglkknf lekspdlqsl ryalslytqt tdalikkfid tqtsqsrssk
     2041 davgqisvhv ditatpgtgd hkvtvkviai ndlnwqttam frpfvevcil gpnlgdkkrk
     2101 qgtktksntw spkynetfqf ilgkenrpga yelhlsvkdy cfaredriig mtviqlqnia
     2161 ekgsygawyp llknismdet gltilrilsq rtsddvakef vrlksetrst eesa
//
LOCUS       XP_016877851             330 aa            linear   PRI 20-MAR-2023
DEFINITION  membrane progestin receptor gamma isoform X1 [Homo sapiens].
ACCESSION   XP_016877851
VERSION     XP_016877851.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017022362.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..330
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..330
                     /product="membrane progestin receptor gamma isoform X1"
                     /calculated_mol_wt=37883
     Region          43..269
                     /region_name="HlyIII"
                     /note="Haemolysin-III related; pfam03006"
                     /db_xref="CDD:427098"
     CDS             1..330
                     /gene="PAQR5"
                     /gene_synonym="MPRG"
                     /coded_by="XM_017022362.2:688..1680"
                     /db_xref="GeneID:54852"
                     /db_xref="HGNC:HGNC:29645"
                     /db_xref="MIM:607781"
ORIGIN      
        1 mlslklprlf sidqipqvfh eqgilfgyrh pqssatacil slfqmtnetl niwthllpfw
       61 ffawrfvtal ymtdikndsy swpmlvymct scvyplvssc ahtfssmskn arhicyfldy
      121 gavnlfslgs aiaysaytfp dalmcttfhd yyvalavlnt ilstglscys rfleiqkprl
      181 ckvirvlafa ypytwdslpi fyrlflfpge saqneatsyh qkhmimtlla sflysahlpe
      241 rlapgrfdyi ghshqlfhvc vilathmqme ailldktlrk ewllatskpf sfsqiagail
      301 lciifslsni iyfsaalyri pkpelhkket
//
LOCUS       XP_011520364            1093 aa            linear   PRI 20-MAR-2023
DEFINITION  probable phospholipid-transporting ATPase IM isoform X17 [Homo
            sapiens].
ACCESSION   XP_011520364
VERSION     XP_011520364.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011522062.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1093
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1093
                     /product="probable phospholipid-transporting ATPase IM
                     isoform X17"
                     /calculated_mol_wt=123833
     Region          2..874
                     /region_name="P-type_ATPase_APLT_Dnf-like"
                     /note="Aminophospholipid translocases (APLTs), similar to
                     Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2,
                     -10D, -11B, -11C; cd02073"
                     /db_xref="CDD:319770"
     Site            order(293..295,438,461..463,528,575..577,690,693,696,716,
                     719)
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:319770"
     Site            293..299
                     /site_type="other"
                     /note="P-type ATPase signature motif"
                     /db_xref="CDD:319770"
     Site            293
                     /site_type="phosphorylation"
                     /note="phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:319770"
     CDS             1..1093
                     /gene="ATP8B4"
                     /gene_synonym="ATPIM"
                     /coded_by="XM_011522062.1:108..3389"
                     /db_xref="GeneID:79895"
                     /db_xref="HGNC:HGNC:13536"
                     /db_xref="MIM:609123"
ORIGIN      
        1 mnvkvgdiik lennqfvaad llllssseph glcyvetael dgslccykdv pwvecqlfga
       61 qealptflkq etnlkvrhal svtselgadi srlagfdgiv vcevpnnkld kfmgilswkd
      121 skhslnneki ilrgcilrnt swcfgmvifa gpdtklmqns gktkfkrtsi drlmntlvlw
      181 ifgfliclgi ilaignsiwe sqtgdqfrtf lfwnegekss vfsgfltfws yiiilntvvp
      241 islyvsvevi rlghsyfinw drkmyysrka ipavartttl neelgqieyi fsdktgtltq
      301 nimtfkrcsi ngriygevhd dldqkteitq ekepvdfsvk sqadrefqff dhhlmesikm
      361 gdpkvheflr llalchtvms eensageliy qvqspdegal vtaarnfgfi fksrtpetit
      421 ieelgtlvty qllafldfnn trkrmsvivr npegqiklys kgadtilfek lhpsnevlls
      481 ltsdhlsefa geglrtlaia yrdlddkyfk ewhkmledan aateerderi aglyeeierd
      541 lmllgatave dklqegviet vtslslanik iwvltgdkqe tainigyacn mltddmndvf
      601 viagnnavev reelrkakqn lfgqnrnfsn ghvvcekkqq leldsiveet itgdyaliin
      661 ghslahales dvkndllela cmcktviccr vtplqkaqvv elvkkyrnav tlaigdgand
      721 vsmiksahig vgisgqeglq avlasdysfa qfrylqrlll vhgrwsyfrm ckflcyffyk
      781 nfaftlvhfw fgffcgfsaq tvydqwfitl fnivytslpv lamgifdqdv sdqnsvdcpq
      841 lykpgqlnll fnkrkfficv lhgiytslvl ffipygafyn vagedgqhia dyqsfavtma
      901 tslvivvsvq ialdtsywtf inhvfiwgsi aiyfsilftm hsngifgifp nqfpfvgnar
      961 hsltqkciwl villttvasv mpvvafrflk vdlyptlsdq irrwqkaqkk arppssrrpr
     1021 trrsssrrsg yafahqegyg elitsgknmr aknppptsgl ekthynstsw ienlckkttd
     1081 tvssfsqdkt vkl
//
LOCUS       XP_047289562             343 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 78 isoform X22 [Homo
            sapiens].
ACCESSION   XP_047289562
VERSION     XP_047289562.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433606.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..343
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..343
                     /product="coiled-coil domain-containing protein 78 isoform
                     X22"
                     /calculated_mol_wt=37862
     Region          <22..>162
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..343
                     /gene="CCDC78"
                     /gene_synonym="C16orf25; CNM4; hsCCDC78; JFP10"
                     /coded_by="XM_047433606.1:486..1517"
                     /db_xref="GeneID:124093"
                     /db_xref="HGNC:HGNC:14153"
                     /db_xref="MIM:614666"
ORIGIN      
        1 mnpeneqhrl gsglqgevkw alehqearqq alvtrvatlg rqlqgareea raagqrlatq
       61 avvlcscqgq lrqaeaenar lqlqlkklkd eyvlrlqhca wqavehadga gqapattalr
      121 tfleatledi raahrsreqq laraarsyhk rlvdlsrrhe ellvayrapg npqaifdias
      181 ldleplpvpl vtdfshredq hggpgallss pkkrpggasq ggtsepqgld aaswaqihqk
      241 lrdfsrstqv ggkgwprpil tpcpsswlts pcqaelerer aqllvratma eeqlselqey
      301 vdqhlgrykh eilrlrklag agdpwkvgav ppakpqhprt gsh
//
LOCUS       XP_047289591            1071 aa            linear   PRI 20-MAR-2023
DEFINITION  von Willebrand factor A domain-containing protein 3A isoform X9
            [Homo sapiens].
ACCESSION   XP_047289591
VERSION     XP_047289591.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433635.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1071
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..1071
                     /product="von Willebrand factor A domain-containing
                     protein 3A isoform X9"
                     /calculated_mol_wt=121641
     Region          187..342
                     /region_name="VWA_3"
                     /note="von Willebrand factor type A domain; pfam13768"
                     /db_xref="CDD:372716"
     Region          549..>657
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Site            order(556,624,656)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238119"
     CDS             1..1071
                     /gene="VWA3A"
                     /coded_by="XM_047433635.1:98..3313"
                     /db_xref="GeneID:146177"
                     /db_xref="HGNC:HGNC:27088"
ORIGIN      
        1 mkkyrkisig cfamatqtsh vfhgqenmfl enhcirrntg rdskkplkqk nmnglgqnsd
       61 ngllvthvnq tqdllrlqgs etqssdweds edwlsahslk cqkltladli sqgtevleeg
      121 tnvvqkicfs tqiirhfesk lsdtievyqe riqwltensk kqnwrqnhll geyrkgvlea
      181 fglikgarvs ilidvsaiss gpqkeefqkd lmslideqls hkeklfvlsf gtnagslwpd
      241 pmevsastlq elklwvktlq pdggsnllqa lkkiftlkgl dslvaimrsc pdqpseilsd
      301 yiqqstmgrd liihfityrc ddqmppavlk nlaeavrgyy hcyspkmehy tsrdmdella
      361 eiqkaqslls hvqalqhssp cealtctmee isteitngpl isllpkppkh dapltiefpn
      421 ldktsaewlk vnglkakkls lyqvlapnaf spveefvpil qktvsstihe kamiqfewhd
      481 gtvknihvdp pflykyqwnd ytawiprdlt hhslkptqqq lsramrmyer riewlslasr
      541 riwgtvcekr vvvlldisat nsmyiihiqh slrllleeql snkdcfnlia fgstieswrp
      601 emvpvshnnl qsawrwalnl rcrgsrnvls alrkavevdf kdkdkhqsqg iylftggipd
      661 qdmptlsaym aeacggcdlq lnvclfyvge pkmdttppar yashtdtaaa ykevtraagg
      721 rfhwfgdtgi yesddinsim semekalnys qkcaflmasl knhsgkvlgs salpkekpkt
      781 lqlrsqpkkl cpprptvplg armsikddpd rekspplksl kwrplssrvg ispaaaqptk
      841 egmmelrrkt ksreaetsll lfytekgndv gsvykkypqg rglrrtsssi dlprkdtvcs
      901 sqewvakygl kklkleisrc mgpncthqks gqrsasakhc sifpsveihg vvrhiqwtpr
      961 emevyirhle kvlrryvqrl qwllsgpvlc srtwyrqsmd rgvmmtaasg srrlfgtvle
     1021 skvcilldts gsmgpylqqv ktelvlliwe qlrkccdrkl svsmiwkdct s
//
LOCUS       XP_047292875             504 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear speckle splicing regulatory protein 1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047292875
VERSION     XP_047292875.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436919.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..504
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..504
                     /product="nuclear speckle splicing regulatory protein 1
                     isoform X4"
                     /calculated_mol_wt=60310
     Region          4..123
                     /region_name="DUF2040"
                     /note="Coiled-coil domain-containing protein 55 (DUF2040);
                     pfam09745"
                     /db_xref="CDD:430796"
     Region          236..>398
                     /region_name="PRK12678"
                     /note="transcription termination factor Rho; Provisional"
                     /db_xref="CDD:237171"
     CDS             1..504
                     /gene="NSRP1"
                     /gene_synonym="CCDC55; HSPC095; NEDSSBA; NSrp70"
                     /coded_by="XM_047436919.1:6256..7770"
                     /db_xref="GeneID:84081"
                     /db_xref="HGNC:HGNC:25305"
                     /db_xref="MIM:616173"
ORIGIN      
        1 mkqtkleiqk alaedatvye ydsiydemqk kkeennpkll lgkdrkpkyi hnllkaveir
       61 kkeqekrmek kiqreremek gefddkeafv tsaykkklqe raeeeerekr aaaleacldv
      121 tkqkdlsgfy rhllnqavge eevpkcsfre arsgikeeks rgfsnevssk nripqekcil
      181 qtdvkveenp dadsdfdaks saddeieetr vncrrekvie tpendfkhhr sqnhsrspse
      241 erghstrhht kgsrtsrghe kredqhqqkq srdqenhytd rdyrkerdsh rhreashrds
      301 hwkrheqedk prardqrers drvwkrekdr ekysqreqer drqqndqnrp sekgekeeks
      361 kakeehmkvr keryenndky rdrekrevgv qssernqdrk esspnsrakd kfldqersnk
      421 mrnmakdker nqekpsnses slgakhrlte egqekgkeqe rppeavskfa krnneetvms
      481 ardrylarqm arvnaktyie kedd
//
LOCUS       XP_011523733             898 aa            linear   PRI 20-MAR-2023
DEFINITION  kinase suppressor of Ras 1 isoform X4 [Homo sapiens].
ACCESSION   XP_011523733
VERSION     XP_011523733.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011525431.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..898
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..898
                     /product="kinase suppressor of Ras 1 isoform X4"
                     /calculated_mol_wt=99269
     Region          41..168
                     /region_name="KSR1-SAM"
                     /note="SAM like domain present in kinase suppressor RAS 1;
                     pfam13543"
                     /db_xref="CDD:404435"
     Region          346..392
                     /region_name="C1_KSR1"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in kinase suppressor of Ras 1 (KSR1) and similar
                     proteins; cd20872"
                     /db_xref="CDD:410422"
     Region          612..890
                     /region_name="STKc_KSR1"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Kinase Suppressor of Ras 1; cd14152"
                     /db_xref="CDD:271054"
     Site            order(619..623,627,637,639,670,686..689,693,695,733,735,
                     737..738,740,750,753,774..777)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:271054"
     Site            order(619,621..623,627,637,639,686..689,735,737..738,740,
                     749..750)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271054"
     Site            order(623,693,695,733,735,737,753,774..777)
                     /site_type="other"
                     /note="putative polypeptide substrate binding site
                     [polypeptide binding]"
                     /db_xref="CDD:271054"
     Site            749..777
                     /site_type="other"
                     /note="putative activation loop (A-loop)"
                     /db_xref="CDD:271054"
     Site            order(769,771..773,785..786,788,824..827,830..832,
                     834..835)
                     /site_type="other"
                     /note="MEK interface [polypeptide binding]"
                     /db_xref="CDD:271054"
     CDS             1..898
                     /gene="KSR1"
                     /gene_synonym="KSR; RSU2"
                     /coded_by="XM_011525431.3:197..2893"
                     /db_xref="GeneID:8844"
                     /db_xref="HGNC:HGNC:6465"
                     /db_xref="MIM:601132"
ORIGIN      
        1 mdraalraaa mgekkegggg gdaaaaegga gaaasralqq cgqlqklidi sigslrglrt
       61 kcavsndltq qeirtleakl vryickqrqc klsvapgert pelnsyprfs dwlytfnvrp
      121 evvqeiprdl tldallemne akvketlrrc gasgdecgrl qyaltclrkv tglggehked
      181 sswssldarr esgsgpstdt lsaaslpwpp gssqlgragn saqgprsisv salpasdspt
      241 psfseglsdt ciplhasgrl tpralhsfit ppttpqlrrh tklkpprtpp ppsrkvfqll
      301 psfptltrsk shesqlgnri ddvssmrfdl shgspqmvrr diglsvthrf stkswlsqvc
      361 hvcqksmifg vkckhcrlkc hnkctkeapa crisflpltr lrrtesvpsd innpvdraae
      421 phfgtlpkal tkkehppamn hldsssnpss ttsstpsspa pfptssnpss attppnpspg
      481 qrdsrfnfpa ayfihhrqqf ifpvpsaghc wkclliaesl kenafnisaf ahaaplpeaa
      541 dgtrlddqpk advleaheae aeepeagkse aeddedevdd lpssrrpwrg pisrkasqts
      601 vylqewdipf eqvelgepig qgrwgrvhrg rwhgevairl lemdghnqdh lklfkkevmn
      661 yrqtrhenvv lfmgacmnpp hlaiitsfck grtlhsfvrd pktsldinkt rqiaqeiikg
      721 mgylhakgiv hkdlksknvf ydngkvvitd fglfgisgvv regrrenqlk lshdwlcyla
      781 peivremtpg kdedqlpfsk aadvyafgtv wyelqardwp lknqaaeasi wqigsgegmk
      841 rvltsvslgk evseilsacw afdlqerpsf sllmdmlekl pklnrrlshp ghfwksae
//
LOCUS       XP_016881511             236 aa            linear   PRI 20-MAR-2023
DEFINITION  neuropilin and tolloid-like protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_016881511
VERSION     XP_016881511.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017026022.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..236
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..236
                     /product="neuropilin and tolloid-like protein 1 isoform
                     X3"
                     /calculated_mol_wt=26949
     Region          51..154
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(52,54,81,86,125,149,151,153..154)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     CDS             1..236
                     /gene="NETO1"
                     /gene_synonym="BCTL1; BTCL1"
                     /coded_by="XM_017026022.2:697..1407"
                     /db_xref="GeneID:81832"
                     /db_xref="HGNC:HGNC:13823"
                     /db_xref="MIM:607973"
ORIGIN      
        1 mihgrsvlhi vasliilhls gatkkgtekq ttsetqksvq cgtwtkhaeg giftspnyps
       61 kyppdreciy iieaaprqci elyfdekysi epsweckfdh ievrdgpfgf spiigrfcgq
      121 qnppvikssg rflwikffad gelesmgfsa rynftpdhys gkasdyfshl lmkspsmllf
      181 lndrktseel qieqvshkql clkqncrskc tisecfcnav pfqnyrfskc qwkevv
//
LOCUS       XP_011525378             463 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 331 isoform X1 [Homo sapiens].
ACCESSION   XP_011525378
VERSION     XP_011525378.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011527076.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..463
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..463
                     /product="zinc finger protein 331 isoform X1"
                     /calculated_mol_wt=53608
     Region          5..46
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          <32..284
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          133..153
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          161..181
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(166,168,170,172..173,176..177,180,194,196,200..201,
                     204..205,208,222,224,226,228..229,232..233,236)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          185..441
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          189..209
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          217..237
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          245..265
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          273..293
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          301..321
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(306,308,310,312..313,316..317,320,334,336,340..341,
                     344..345,348,362,364,366,368..369,372..373,376)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          329..349
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          357..377
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          385..405
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          413..433
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          441..461
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..463
                     /gene="ZNF331"
                     /gene_synonym="RITA; ZNF361; ZNF463"
                     /coded_by="XM_011527076.4:1775..3166"
                     /db_xref="GeneID:55422"
                     /db_xref="HGNC:HGNC:15489"
                     /db_xref="MIM:606043"
ORIGIN      
        1 maqglvtfad vaidfsqeew aclnsaqrdl ywdvmlenys nlvsldlesa yenkslptek
       61 niheiraskr nsdrrskslg rnwicegtle rpqrsrgryv nqmiinyvkr patregtppr
      121 thqrhhkens feckdcgkaf srgyqlsqhq kihtgekpye ckeckkafrw gnqltqhqki
      181 htgekpyeck dcgkafrwgs slvihkriht gekpyeckdc gkafrrgdel tqhqrfhtge
      241 kdyeckdcgk tfsrvykliq hkrihsgekp yeckdcgkaf icgssliqhk rihtgekpye
      301 cqecgkaftr vnyltqhqki htgekpheck ecgkafrwgs slvkheriht gekpykctec
      361 gkafncgyhl tqherihtge tpykckecgk afiygsslvk herihtgvkp ygctecgksf
      421 shghqltqhq kthsgaksye ckecgkacnh lnhlrehqri hns
//
LOCUS       XP_016882619             268 aa            linear   PRI 20-MAR-2023
DEFINITION  epididymal sperm-binding protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_016882619
VERSION     XP_016882619.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027130.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..268
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..268
                     /product="epididymal sperm-binding protein 1 isoform X1"
                     /calculated_mol_wt=31287
     Region          74..111
                     /region_name="fn2"
                     /note="Fibronectin type II domain; pfam00040"
                     /db_xref="CDD:425438"
     Site            order(78,80,85,97,104,108,110)
                     /site_type="active"
                     /note="putative gelatin-binding site [active]"
                     /db_xref="CDD:238019"
     Region          114..160
                     /region_name="FN2"
                     /note="Fibronectin Type II domain: FN2 is one of three
                     types of internal repeats which combine to form larger
                     domains within fibronectin. Fibronectin, a plasma protein
                     that binds cell surfaces and various compounds including
                     collagen, fibrin, heparin, DNA, and...; cd00062"
                     /db_xref="CDD:238019"
     Site            order(123,125,130,144,151,157,159)
                     /site_type="active"
                     /note="putative gelatin-binding site [active]"
                     /db_xref="CDD:238019"
     Region          168..213
                     /region_name="FN2"
                     /note="Fibronectin Type II domain: FN2 is one of three
                     types of internal repeats which combine to form larger
                     domains within fibronectin. Fibronectin, a plasma protein
                     that binds cell surfaces and various compounds including
                     collagen, fibrin, heparin, DNA, and...; cd00062"
                     /db_xref="CDD:238019"
     Site            order(178,180,185,197,204,210,212)
                     /site_type="active"
                     /note="putative gelatin-binding site [active]"
                     /db_xref="CDD:238019"
     Region          222..268
                     /region_name="FN2"
                     /note="Fibronectin Type II domain: FN2 is one of three
                     types of internal repeats which combine to form larger
                     domains within fibronectin. Fibronectin, a plasma protein
                     that binds cell surfaces and various compounds including
                     collagen, fibrin, heparin, DNA, and...; cd00062"
                     /db_xref="CDD:238019"
     Site            order(231,233,238,252,259,265,267)
                     /site_type="active"
                     /note="putative gelatin-binding site [active]"
                     /db_xref="CDD:238019"
     CDS             1..268
                     /gene="ELSPBP1"
                     /gene_synonym="E12; EDDM12; EL149; HE12"
                     /coded_by="XM_017027130.2:143..949"
                     /db_xref="GeneID:64100"
                     /db_xref="HGNC:HGNC:14417"
                     /db_xref="MIM:607443"
ORIGIN      
        1 mrkqrliegk gftlpknsdt sidrpaltlr yityqlwsfe kraakmtrws syllgwttfl
       61 lysyessggm heecvfpfty kgsvyftcth ihslspwcat ravyngqwky cqsedyprci
      121 fpfiyrgkay nscisqgsfl gslwcsvtsv fdekqqwkfc etneyggnsl rkpcifpsiy
      181 rnnvvsdcme desnklwcpt tenmdkdgkw sfcadtrisa lvpgfpchfp fnyknknyfn
      241 ctnegskenl vwcatsynyd qdhtwvyc
//
LOCUS       XP_047299060             813 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase 11-interacting protein isoform X5
            [Homo sapiens].
ACCESSION   XP_047299060
VERSION     XP_047299060.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443104.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..813
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..813
                     /product="serine/threonine-protein kinase 11-interacting
                     protein isoform X5"
                     /calculated_mol_wt=89408
     Region          8..93
                     /region_name="LIP1"
                     /note="LKB1 serine/threonine kinase interacting protein 1;
                     pfam15904"
                     /db_xref="CDD:435007"
     Region          160..187
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <173..321
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          188..210
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          211..233
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          234..255
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          256..280
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..813
                     /gene="STK11IP"
                     /gene_synonym="LIP1; LKB1IP; STK11IP1"
                     /coded_by="XM_047443104.1:94..2535"
                     /db_xref="GeneID:114790"
                     /db_xref="HGNC:HGNC:19184"
                     /db_xref="MIM:607172"
ORIGIN      
        1 mttaqrdsll wklagllres gdvvlsgcst lslltptlqq lnhvfelhlg pwgpgqtgfv
       61 alpshpadsp vilqlqflfd vlqktlslkl vhvagpgptg pikifpfksl rhlelrgvpl
      121 hclhglrgiy sqletlicsr slqaleells acggdfcsal pwlallsanf synaltalds
      181 slrllsalrf lnlshnqvqd cqgflmdlce lhhldisynr lhlvprmgps gaalgvlilr
      241 gnelrslhgl eqlrnlrhld laynlleghr elsplwllae lrklylegnp lwfhpehraa
      301 taqylsprar daatgflldg kvlsltdfqt htslglspmg pplpwpvgst petsggpdls
      361 dslssggvvt qpllhkvksr vrvrrasise psdtdpeprt lnpspagwfv qqhpelelms
      421 sfrerfgrnw lqyrshleps gnplpatptt sapsappass qgpdtaprps ppqeeargpq
      481 espqkmseev raepqeeeee kegkeekeeg emveqgeeea geeeeeeqdq keveaelcrp
      541 llvcplegpe gvrgrecflr vtsahlfeve lqaartlerl elqsleaaei epeaqaqrsp
      601 rptgsdllpg apilslrfsy icpdrqlrry lvlepdahaa vqellavltp vtnvareqlg
      661 eardlllgrf qclrcghefk peeprmglds eegwrplfqk tgsgnressl wlllrlpals
      721 atllamvttl tgprtahlrh rapvtmvvga svpplsavas alwttdsgss wmlrcsampr
      781 rsssaasrcq whwqatlgss calwlcltag ctc
//
LOCUS       XP_047299375             221 aa            linear   PRI 20-MAR-2023
DEFINITION  galactose mutarotase isoform X1 [Homo sapiens].
ACCESSION   XP_047299375
VERSION     XP_047299375.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443419.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..221
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..221
                     /product="galactose mutarotase isoform X1"
                     /calculated_mol_wt=24012
     Region          29..>212
                     /region_name="galactose_mutarotase_like"
                     /note="galactose mutarotase_like; cd09019"
                     /db_xref="CDD:185696"
     CDS             1..221
                     /gene="GALM"
                     /gene_synonym="BLOCK25; GALAC4; GLAT; HEL-S-63p; IBD1"
                     /coded_by="XM_047443419.1:49..714"
                     /db_xref="GeneID:130589"
                     /db_xref="HGNC:HGNC:24063"
                     /db_xref="MIM:137030"
ORIGIN      
        1 masvtravfg elpsgggtve kfqlqsdllr vdiiswgcti talevkdrqg rasdvvlgfa
       61 elegylqkqp yfgavigrva nriakgtfkv dgkeyhlain kepnslhggv rgfdkvlwtp
      121 rvlsngvqfs rispdgeegy pgelkvwvty tldggelivn yraqasqatp vnltnhsyfn
      181 lagqaspnin dhevtieadt ylpvdetlip tggtnrrflq g
//
LOCUS       XP_005264209             282 aa            linear   PRI 20-MAR-2023
DEFINITION  meiosis 1 arrest protein isoform X9 [Homo sapiens].
ACCESSION   XP_005264209
VERSION     XP_005264209.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005264152.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..282
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..282
                     /product="meiosis 1 arrest protein isoform X9"
                     /calculated_mol_wt=31470
     CDS             1..282
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /coded_by="XM_005264152.4:4..852"
                     /db_xref="GeneID:130951"
                     /db_xref="HGNC:HGNC:25183"
                     /db_xref="MIM:619098"
ORIGIN      
        1 mrqllsqprs ktmclkcdlq erllcpslla gtadgslrmd dpkgdfitly qmasqssash
       61 yklqvikalk ssglceslty glpfilrpts cwqldwdele tnqqhfhalc hsllkrewll
      121 lakgeppgpg hsqripastf yvimpshslt llvkavatre lmlpstfpll pedphddslk
      181 nvesmldsle leptynplhv qshlyshlss iyakpqgrlh phwesraprk tgqlqtnrar
      241 atvaplpmtp vpgraskmpa asksssdaff lpsewekdps rp
//
LOCUS       XP_047299823             618 aa            linear   PRI 20-MAR-2023
DEFINITION  follicle-stimulating hormone receptor isoform X2 [Homo sapiens].
ACCESSION   XP_047299823
VERSION     XP_047299823.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443867.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..618
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..618
                     /product="follicle-stimulating hormone receptor isoform
                     X2"
                     /calculated_mol_wt=69361
     Region          38..61
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          62..83
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          84..99
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          136..163
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          164..186
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          205..272
                     /region_name="GnHR_trans"
                     /note="Gonadotropin hormone receptor transmembrane region;
                     pfam12369"
                     /db_xref="CDD:432511"
     Region          286..560
                     /region_name="7tmA_FSH-R"
                     /note="follicle-stimulating hormone receptor, member of
                     the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15360"
                     /db_xref="CDD:320482"
     Region          287..313
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320482"
     Region          320..345
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320482"
     Site            order(341,344..345,365..370,372..373,376,421,423..427,449,
                     452..454,456..458,460..461,508,511..512,514..515,518,
                     527..528,530..532,535,538..539)
                     /site_type="other"
                     /note="putative peptide ligand binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:320482"
     Region          365..395
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320482"
     Region          407..429
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320482"
     Region          449..478
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320482"
     Region          488..518
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320482"
     Region          528..553
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320482"
     CDS             1..618
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /coded_by="XM_047443867.1:286..2142"
                     /db_xref="GeneID:2492"
                     /db_xref="HGNC:HGNC:3969"
                     /db_xref="MIM:136435"
ORIGIN      
        1 miiiaylkmr ignrlisntg ikhlpdvhki hslqkvlldi qdninihtie rnsfvglsfe
       61 svilwlnkng iqeihncafn gtqldelnls dnnnleelpn dvfhgasgpv ilnrrtrtpt
      121 epnvllakyp sgqgvleepe slsssidisr trihslpsyg lenlkklrar stynlkklpt
      181 leklvalmea sltypshcca fanwrrqise lhpicnksil rqevdymtqa rgqrsslaed
      241 nessysrgfd mtytefdydl cnevvdvtcs pkpdafnpce dimgynilrv liwfisilai
      301 tgniivlvil ttsqykltvp rflmcnlafa dlcigiylll iasvdihtks qyhnyaidwq
      361 tgagcdaagf ftvfaselsv ytltaitler whtithamql dckvqlrhaa svmvmgwifa
      421 faaalfpifg issymkvsic lpmdidspls qlyvmsllvl nvlafvvicg cyihiyltvr
      481 npnivssssd triakrmaml iftdflcmap isffaisasl kvplitvska killvlfhpi
      541 nscanpflya iftknfrrdf fillskcgcy emqaqiyrte tsstvhnthp rnghcssapr
      601 vtsgstyilv plshlaqn
//
LOCUS       XP_047300421             486 aa            linear   PRI 20-MAR-2023
DEFINITION  NGFI-A-binding protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047300421
VERSION     XP_047300421.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444465.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..486
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..486
                     /product="NGFI-A-binding protein 1 isoform X2"
                     /calculated_mol_wt=54142
     Region          5..83
                     /region_name="NCD1"
                     /note="NAB conserved region 1 (NCD1); pfam04904"
                     /db_xref="CDD:428187"
     Region          190..318
                     /region_name="NCD2"
                     /note="NAB conserved region 2 (NCD2); pfam04905"
                     /db_xref="CDD:428188"
     Region          322..485
                     /region_name="Nab1"
                     /note="Conserved region in Nab1; pfam04902"
                     /db_xref="CDD:428186"
     CDS             1..486
                     /gene="NAB1"
                     /coded_by="XM_047444465.1:249..1709"
                     /db_xref="GeneID:4664"
                     /db_xref="HGNC:HGNC:7626"
                     /db_xref="MIM:600800"
ORIGIN      
        1 maaalprtlg elqlyrilqk anllsyfdaf iqqggddvqq lceageeefl eimalvgmas
       61 kplhvrrlqk alrdwvtnpg lfnqpltslp vssipiyklp egsptwlgis cssyerssna
      121 rephlkipkc aattcvqslg qgksdvvgsl alqsvgesrl wqghhatese hslspadlgs
      181 paspkessea ldaaaalsva ecvermaptl pksdlnevke llktnkklak mighifemnd
      241 ddphkeeeir kysaiygrfd skrkdgkhlt lheltvneaa aqlcvkdnal ltrrdelfal
      301 arqisrevty kytyrttksk cgerdelspk rikvedgfpd fqdsvqtlfq qarakseela
      361 alssqpekvm akqmeflcnq agyerlqhae rrlsaglyrq sseehspngl tsdnsdgqge
      421 rplnlrmpnl qnrqphhfvv dgelsrlyps eakshssesl gilkdyphsa ftlekkvikt
      481 epedsr
//
LOCUS       XP_047297002            1318 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptojanin-1 isoform X16 [Homo sapiens].
ACCESSION   XP_047297002
VERSION     XP_047297002.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441046.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1318
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..1318
                     /product="synaptojanin-1 isoform X16"
                     /calculated_mol_wt=145926
     Region          73..522
                     /region_name="COG5329"
                     /note="Phosphoinositide polyphosphatase (Sac family)
                     [Signal transduction mechanisms]"
                     /db_xref="CDD:227637"
     Region          575..910
                     /region_name="INPP5c_Synj1"
                     /note="Catalytic inositol polyphosphate 5-phosphatase
                     (INPP5c) domain of synaptojanin 1; cd09098"
                     /db_xref="CDD:197332"
     Site            order(583,585,633,710..711,731,734..735,772,774,776,
                     826..827,842,848,900..901)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:197332"
     Site            order(583,633,731,772,774,848,900..901)
                     /site_type="active"
                     /note="putative catalytic site [active]"
                     /db_xref="CDD:197332"
     Site            order(585,633,900)
                     /site_type="other"
                     /note="Mg binding site [ion binding]"
                     /db_xref="CDD:197332"
     Site            order(633,710..711,731,734..735,776,826..827,842,900)
                     /site_type="other"
                     /note="putative PI/IP binding site [chemical binding]"
                     /db_xref="CDD:197332"
     Site            order(731,774,901)
                     /site_type="other"
                     /note="putative phosphate binding site [ion binding]"
                     /db_xref="CDD:197332"
     Region          909..1050
                     /region_name="DUF1866"
                     /note="Domain of unknown function (DUF1866); pfam08952"
                     /db_xref="CDD:286093"
     Region          1093..>1278
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     CDS             1..1318
                     /gene="SYNJ1"
                     /gene_synonym="DEE53; EIEE53; INPP5G; PARK20"
                     /coded_by="XM_047441046.1:1..3957"
                     /db_xref="GeneID:8867"
                     /db_xref="HGNC:HGNC:11503"
                     /db_xref="MIM:604297"
ORIGIN      
        1 mrkrwacwsg sdapggcggg cgrrrrrsrr kraaseerrm afskgfriyh kldpppfsli
       61 vetrhkeecl mfesgavavl ssaekeaikg tyskvldayg llgvlrlnlg dtmlhylvlv
      121 tgcmsvgkiq esevfrvtst efislridss dedrisevrk vlnsgnfyfa wsasgisldl
      181 slnahrsmqe qttdnrffwn qslhlhlkhy gvncddwllr lmcggveirt iyaahkqaka
      241 clisrlscer agtrfnvrgt nddghvanfv eteqvvyldd svssfiqirg svplfweqpg
      301 lqvgshrvrm srgfeanapa fdrhfrtlkn lygkqiivnl lgskegehml skafqshlka
      361 sehaadiqmv nfdyhqmvkg gkaeklhsvl kpqvqkfldy gffyfngsev qrcqsgtvrt
      421 ncldcldrtn svqaflglem lakqlealgl aekpqlvtrf qevfrsmwsv ngdsiskiya
      481 gtgalegkak agklkdgars vtrtiqnnff dsskqeaidv lllgntlnsd ladkarallt
      541 tgslrvseqt lqsasskvlk smcenfykys kpkkirvcvg twnvnggkqf rsiafknqtl
      601 tdwlldapkl agiqefqdkr skptdifaig feemvelnag nivsasttnq klwavelqkt
      661 isrdnkyvll aseqlvgvcl fvfirpqhap firdvavdtv ktgmggatgn kgavairmlf
      721 httslcfvcs hfaagqsqvk ernedfieia rklsfpmgrm lfshdyvfwc gdfnyridlp
      781 neevkelirq qnwdsliagd qlinqknagq vfrgflegkv tfaptykydl fsddydtsek
      841 crtpawtdrv lwrrrkwpfd rsaedldlln asfqdeskil ytwtpgtllh ygraelktsd
      901 hrpvvalidi difeveaeer qniykeviav qgppdgtvlv siksslpenn ffddalidel
      961 lqqfasfgev ilirfvedkm wvtflegssa lnvlslngke llnrtitial kspdwiknle
     1021 eemslekisi alpsstsstl lgedaevaad fdmegdvddy saeveellpq hlqpssssgl
     1081 gtspsssprt spcqsptise gpvpslpirp srapsrtpgp psaqsspida qpatplpqkd
     1141 paqplepkrp ppprpvappt rpappqrppp psgrsqpspq aglagpgpag ystarptipp
     1201 ragvisapqs harasagrlt pesqsktset skgstflpep lkpqaafppq sslpppaqrl
     1261 qeplvpvaap mpqsgpqpnl etppqppprs rsshslpsea ssqpqcslsf agknkwnl
//
LOCUS       XP_047297283             330 aa            linear   PRI 20-MAR-2023
DEFINITION  ADP-ribosylation factor-binding protein GGA1 isoform X7 [Homo
            sapiens].
ACCESSION   XP_047297283
VERSION     XP_047297283.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441327.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..330
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..330
                     /product="ADP-ribosylation factor-binding protein GGA1
                     isoform X7"
                     /calculated_mol_wt=36822
     Region          9..164
                     /region_name="VHS_ENTH_ANTH"
                     /note="VHS, ENTH and ANTH domain superfamily; cl02544"
                     /db_xref="CDD:445822"
     Region          186..224
                     /region_name="GGA_N-GAT"
                     /note="GGA N-GAT domain; pfam18308"
                     /db_xref="CDD:436398"
     Region          227..>294
                     /region_name="GAT_SF"
                     /note="GAT domain found in eukaryotic GGAs, metazoan
                     Tom1-like proteins, metazoan STAMs, fungal Vps27, and
                     similar proteins; cl03906"
                     /db_xref="CDD:446227"
     CDS             1..330
                     /gene="GGA1"
                     /coded_by="XM_047441327.1:28..1020"
                     /db_xref="GeneID:26088"
                     /db_xref="HGNC:HGNC:17842"
                     /db_xref="MIM:606004"
ORIGIN      
        1 mepamepetl earinratnp lnkeldwasi ngfceqlned fegpplatrl lahkiqspqe
       61 weaiqaltvr rgeatirppp cddtkvletc mkscgkrfhd evgkfrflne likvvspkyl
      121 gsrtsekvkn kilellyswt vglpeevkia eayqmlkkqg ivksdpklpd dttfplpppr
      181 pknvifedee kskmlarllk sshpedlraa nklikemvqe dqkrmekisk rvnaieevnn
      241 nvklltemvm shsqggaaag ssedlmkely qrcermrptl frlasdtedn dealgcdgcg
      301 vlvpcrpeap tvlqpglspp acssgdpagq
//
LOCUS       XP_011528762            2610 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-XVIIIb isoform X2 [Homo sapiens].
ACCESSION   XP_011528762
VERSION     XP_011528762.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011530460.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2610
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..2610
                     /product="unconventional myosin-XVIIIb isoform X2"
                     /calculated_mol_wt=289732
     Region          <263..555
                     /region_name="2A1904"
                     /note="K+-dependent Na+/Ca+ exchanger; TIGR00927"
                     /db_xref="CDD:273344"
     Region          552..2129
                     /region_name="COG5022"
                     /note="Myosin heavy chain [General function prediction
                     only]"
                     /db_xref="CDD:227355"
     Region          627..1364
                     /region_name="MYSc_Myo18"
                     /note="class XVIII myosin, motor domain; cd01386"
                     /db_xref="CDD:276837"
     Site            order(655,662,702..709,748..758,987..992)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276837"
     Site            order(655,662)
                     /site_type="other"
                     /note="purine-binding loop"
                     /db_xref="CDD:276837"
     Site            702..709
                     /site_type="other"
                     /note="P-loop"
                     /db_xref="CDD:276837"
     Site            748..758
                     /site_type="other"
                     /note="switch I region"
                     /db_xref="CDD:276837"
     Site            987..992
                     /site_type="other"
                     /note="switch II region"
                     /db_xref="CDD:276837"
     Site            order(1022..1033,1036..1045)
                     /site_type="active"
                     /note="relay loop [active]"
                     /db_xref="CDD:276837"
     Site            1291..1300
                     /site_type="other"
                     /note="SH1 helix"
                     /db_xref="CDD:276837"
     Site            order(1303..1321,1334..1364)
                     /site_type="other"
                     /note="converter subdomain"
                     /db_xref="CDD:276837"
     CDS             1..2610
                     /gene="MYO18B"
                     /gene_synonym="KFS4"
                     /coded_by="XM_011530460.3:114..7946"
                     /db_xref="GeneID:84700"
                     /db_xref="HGNC:HGNC:18150"
                     /db_xref="MIM:607295"
ORIGIN      
        1 mcnptfnllp assireedks pppssppplf svipggfikq lvrgtekeak earqrkqlav
       61 asperevete akrgqvifpr ssdqieaerg gepvcsllsq dawkrtslip eisisqpnsk
      121 sssgtrsgsq qisqddqsss pgssdilgke segsrspdpe qmtsingeka qelgssatpt
      181 kktvpfkrgv rrgdvllmva kldpdsakpe kthphdappc ktsppatdtg kekkgetsrt
      241 pcgsqastei lapkaektrt gglgdpgqgt valkkgeegq sivgkglgtp kttelkeaep
      301 qgkdrqgtrp qaqgpgegvr pgkaekegae ptntvekgnv skdvgsegkh vrpqipgrkw
      361 ggflgrrskw dgpqnkkdke gvllskaekt gepqtqmekt sqvqgelgdd lrmgekagel
      421 rsttgkages wdkkekmgqp qgksgnagea rsqtekgcea pkevstmves paapgkggwp
      481 gsrgqeaeep csragdgaga letelegpsq palekdaerp rirkenqdgp apqeegkggq
      541 srdsdqaped rwyeaekvwl aqkdgftlat vlkpdegtad lpagrvrlwi dadktitevd
      601 eehvhranpp eldqvedlas lisvnessvl ntllqrykaq llhtctgpdl ivlqprgpsv
      661 psagkvpkgr rdglpahigs maqraywall nqrrdqsiva lgwsgagktt cceqvlehlv
      721 gmagsvdgrv svekiratft vlrafgsvsm ahsrsatrfs mvmsldfnat gritaaqlqt
      781 mlleksrvar qpegesnflv fsqmlagldl dlrtelnlhq madsssfgmg vwskpedkqk
      841 aaaafaqlqg amemlgises eqravwrvla aiyhlgaaga ckvgrkqfmr fewanyaaea
      901 lgceyeelnt atfkhhlrqi iqqmtfgpsr wgledeetss glkmtgvdcv egmasglyqe
      961 lfaavvslin rsfsshhlsm asimvvdspg fqnprhqgkd raatfeelch nyaherlqll
     1021 fyqrtfvstl qryqeegvpv qfdlpdpspg ttvavvdqnp sqqvrlpagg gaqdarglfw
     1081 vldeevhveg ssdsvvlerl caafekkgag tegssalrtc eqplqceifh qlgwdpvryd
     1141 ltgwlhrakp nlsaldapqv lhqskreelr slfqaraklp pvcravagle gtsqqalqrs
     1201 rmvrrtfass laavrrkapc sqiklqmdal tsmikrsrlh fihclvpnpv vesrsgqesp
     1261 pppqpgrdkp gaggplaldi palrvqlagf hilealrlhr tgyadhmglt rfrrqfqvld
     1321 apllkklmst segiderkav eelletldle kkavavghsq vflkagvisr lekqreklvs
     1381 qsivlfqaac kgflsrqefk klkirrlaaq ciqknvavfl avkdwpwwql lgslqpllsa
     1441 tigteqlrak eeelttlrrk lekseklrne lrqntdlles kiadltsdla derfkgdvac
     1501 qvleseraer lqafrevqel kskheqvqkk lgdvnkqlee aqqkiqlndl ernptggade
     1561 wqmrfdcaqm eneflrkrlq qceerldsel tarkeleqkl gelqsaydga kkmahqlkrk
     1621 chhltcdled tcvllenqqs rnhelekkqk kfdlqlaqal gesvfekglr ekvtqentsv
     1681 rwelgqlqqq lkqkeqeasq lkqqvemlqd hkrellgsps lgencvaglk erlwklessa
     1741 leqqkiqsqq entikqleql rqrfeleier mkqmhqkdre dqeeeledvr qscqkrlhql
     1801 emqleqeyee kqmvlhekqd legligtlcd qighrdfdve krlrrdlrrt hallsdvqll
     1861 lgtmedgkts vskeelekvh sqleqseakc eealktqkvl tadlesmhse lenmtrnksl
     1921 vdeqlyrlqf ekadllkrid edqddlnelm qkhkdliaqs aadigqiqel qlqleeakke
     1981 khklqeqlqv aqmrieyleq stvdraivsr qeavicdlen ktefqkvqik rfevlvirlr
     2041 dslikmgeel sqaatsesqq ressqyyqrr leelkadmee lvqreaeasr rcmelekyve
     2101 elaavrqtlq tdletsirri adlqaaleev assdsdtesv qtavdcgssg rkemdnvsil
     2161 ssqpegslqs wlsctlslat dtmrtpsrqs atssrilspr ineeagdter tqsalalsra
     2221 rstnvhskts gdkpvsphfv rrqkychfgd gevlavqrks terlepassp lasrstntsp
     2281 lsreklpsps aalsefvegl rrkraqrgqg stlgledwpt lpiyqttgas tlrrgragsd
     2341 egnlslrvga kspleiegaa ggllrstslk cissdgvggt tllpeksktq fssceslles
     2401 rpsmgrklss pttprdmlls ptlrprrrcl essvddagcp dlgkeplvfq nrqfahlmee
     2461 plgsdpfswk lpsldyerkt kvdfddflpa irkpqtptsl agsakggqdg sqrssihfet
     2521 eeanrsflsg iktilkkspe pkedpahlsd sssssgsivs fksadsiksr pgiprlagdg
     2581 gertsperre pgtgrkdddv asimkkylqk
//
LOCUS       XP_047297569             287 aa            linear   PRI 20-MAR-2023
DEFINITION  PRKCA-binding protein isoform X4 [Homo sapiens].
ACCESSION   XP_047297569
VERSION     XP_047297569.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441613.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..287
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..287
                     /product="PRKCA-binding protein isoform X4"
                     /calculated_mol_wt=32646
     Region          18..232
                     /region_name="BAR_PICK1"
                     /note="The Bin/Amphiphysin/Rvs (BAR) domain of Protein
                     Interacting with C Kinase 1; cd07659"
                     /db_xref="CDD:153343"
     Site            order(34..35,41,45,48,51..52,55,58..59,63,65..66,69,
                     72..73,78..79,81..82,85,89,198,202..203,206..207,209..210,
                     217..218,220..221)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153343"
     Site            order(40,43,46..47,50..51,53..55,57..58,94,97,101,
                     104..105)
                     /site_type="active"
                     /note="putative Rac binding site [active]"
                     /db_xref="CDD:153343"
     CDS             1..287
                     /gene="PICK1"
                     /gene_synonym="PICK; PRKCABP"
                     /coded_by="XM_047441613.1:238..1101"
                     /db_xref="GeneID:9463"
                     /db_xref="HGNC:HGNC:9394"
                     /db_xref="MIM:605926"
ORIGIN      
        1 mssgtadalg lsrailcndg lvkrleeler taelykgmte htknllrafy elsqthrafg
       61 dvfsvigvre pqpaaseafv kfadahrsie kfgirllkti kpmltdlnty lnkaipdtrl
      121 tikkyldvkf eylsyclkvk emddeeysci algeplyrvs tgnyeyrlil rcrqeararf
      181 sqmrkdvlek melldqkhvq divfqlqrlv stmskyyndc yavlrdadvf pievdlahtt
      241 layglnqeef tdgeeeeeee dtaagepsrd trgaagpldk ggswcds
//
LOCUS       XP_006713576             212 aa            linear   PRI 20-MAR-2023
DEFINITION  ropporin-1B isoform X1 [Homo sapiens].
ACCESSION   XP_006713576
VERSION     XP_006713576.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006713513.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..212
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..212
                     /product="ropporin-1B isoform X1"
                     /calculated_mol_wt=23833
     Region          5..47
                     /region_name="DD_ROP"
                     /note="dimerization/docking (D/D) domain found in
                     ropporins; cd23019"
                     /db_xref="CDD:438555"
     Site            order(8..9,11,13..14,17..18,21..22,25..26,29,33..35,
                     37..38,41..42,44..45)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:438555"
     Site            order(10,14..15,18..19,22..23,26..27)
                     /site_type="other"
                     /note="putative AKAP interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:438555"
     CDS             1..212
                     /gene="ROPN1B"
                     /coded_by="XM_006713513.4:395..1033"
                     /db_xref="GeneID:152015"
                     /db_xref="HGNC:HGNC:31927"
ORIGIN      
        1 maqtdkptci ppelpkmlke fakaairaqp qdliqwgady fealsrgetp pvrerserva
       61 lcnwaeltpe llkilhsqva grliiraeel aqmwkvvnlp tdlfnsvmnv grfteeiewl
      121 kflalacsal gvtitktlki vcevlscdhn gglpripfst fqflytyiae vdgeicashv
      181 srmlnyieqe vigpdglitv ndftqnprvw le
//
LOCUS       XP_011531832             578 aa            linear   PRI 20-MAR-2023
DEFINITION  raftlin isoform X2 [Homo sapiens].
ACCESSION   XP_011531832
VERSION     XP_011531832.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011533530.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..578
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..578
                     /product="raftlin isoform X2"
                     /calculated_mol_wt=63015
     Region          1..471
                     /region_name="Raftlin"
                     /note="pfam15250"
                     /db_xref="CDD:434572"
     CDS             1..578
                     /gene="RFTN1"
                     /gene_synonym="MIG2; PIB10; PIG9; RAFTLIN"
                     /coded_by="XM_011533530.2:461..2197"
                     /db_xref="GeneID:23180"
                     /db_xref="HGNC:HGNC:30278"
                     /db_xref="MIM:618210"
ORIGIN      
        1 mgcglnklek rdekrpgniy stlkrpqvet kidvsyeyrf lefttlsaae lpgssavrla
       61 slrdlpaqll elyqqgfsla alhpfvqpth erektplehi frailikktd rsqktdlhne
      121 gyileldccs sldhptdqkl ipefikkiqe aasqglkfvg vipqyhssvn sagssapvst
      181 anstedarda knargdhasl enekpgtgdv csapagrnqs pepssgprge vplakqpssp
      241 sgegdggels pqgvsktldg pesnplevhe eplsgkmeif tlfnkpkshq kcrqyypvti
      301 plhvskngqt vsgldanwle hmsdhfrkgg mlvnavfylg ivndslhglt dgvfifeavs
      361 tedsktiqgy daivveqwtv legvevqtdy vpllnslaay gwqltcvlpt pvvkttsegs
      421 vstkqivflq rpclpqkikk keskfqwrfs reemhnrqmr kskgklsard kqqaeenekn
      481 ledqsskagd mgncvsgqqq eggvseemkg pvqedkgeql spggllcgvg vegeavqngp
      541 ashsralvgi ctghsnpged ardgdaeevr elgtveen
//
LOCUS       XP_047303997             295 aa            linear   PRI 20-MAR-2023
DEFINITION  tumor protein p63-regulated gene 1 protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_047303997
VERSION     XP_047303997.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448041.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..295
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..295
                     /product="tumor protein p63-regulated gene 1 protein
                     isoform X1"
                     /calculated_mol_wt=33475
     Region          70..190
                     /region_name="hSac2"
                     /note="Inositol phosphatase; pfam12456"
                     /db_xref="CDD:432566"
     CDS             1..295
                     /gene="TPRG1"
                     /gene_synonym="FAM79B"
                     /coded_by="XM_047448041.1:488..1375"
                     /db_xref="GeneID:285386"
                     /db_xref="HGNC:HGNC:24759"
ORIGIN      
        1 mstigsfegf qavslkqegd dqpsetdhls meeedpmprq isrqssvtes tlypnpyhqp
       61 yisrkyfatr pgaietamed lkghvaetsg etiqgfwllt ktdplsqhqg ehldtlwnfk
      121 kidhwnneke rillvtdktl lickydfiml scvqlqripl savyriclgk ftfpgmsldk
      181 rqgeglriyw gspeeqslls rwnpwstevp yatftehpmk ytsekfleic klsgfmsklv
      241 paiqnahkns tgsgrgkklm vltepiliet ytglmsfign rnklgyslar gsigf
//
LOCUS       XP_047305098             185 aa            linear   PRI 20-MAR-2023
DEFINITION  homeobox expressed in ES cells 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047305098
VERSION     XP_047305098.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449142.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..185
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..185
                     /product="homeobox expressed in ES cells 1 isoform X1"
                     /calculated_mol_wt=21278
     Site            order(109..113,115,132,138,151,153..154,157..158,160..162,
                     164..165)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          111..164
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     Site            order(111,114,154,157..158,161)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     CDS             1..185
                     /gene="HESX1"
                     /gene_synonym="ANF; CPHD5; RPX"
                     /coded_by="XM_047449142.1:1599..2156"
                     /db_xref="GeneID:8820"
                     /db_xref="HGNC:HGNC:4877"
                     /db_xref="MIM:601802"
ORIGIN      
        1 mspslqegaq lgenkpstcs fsierilgld qkkdcvplmk phrpwadtcs ssgkdgnlcl
       61 hvpnppsgis fpsvvdhpmp eeraskyeny fsaserlslk relswyrgrr prtaftqnqi
      121 evlenvfrvn cypgidired laqklnleed riqiwfqnrr aklkrshres qflmakknfn
      181 tnlle
//
LOCUS       XP_016863248             123 aa            linear   PRI 20-MAR-2023
DEFINITION  PACRG-like protein isoform X12 [Homo sapiens].
ACCESSION   XP_016863248
VERSION     XP_016863248.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017007759.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..123
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..123
                     /product="PACRG-like protein isoform X12"
                     /calculated_mol_wt=13154
     CDS             1..123
                     /gene="PACRGL"
                     /gene_synonym="C4orf28"
                     /coded_by="XM_017007759.3:138..509"
                     /db_xref="GeneID:133015"
                     /db_xref="HGNC:HGNC:28442"
ORIGIN      
        1 mqksegsggt qlknratgny dqrtssstql khrnavqgsk sslstsspes arklhprpsd
       61 klnpktinpv hsddevferg lnalvqlsvv vgpslndhlk hlltsgslsi ikskiptycs
      121 icc
//
LOCUS       XP_011530371             855 aa            linear   PRI 20-MAR-2023
DEFINITION  la-related protein 1B isoform X22 [Homo sapiens].
ACCESSION   XP_011530371
VERSION     XP_011530371.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011532069.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..855
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..855
                     /product="la-related protein 1B isoform X22"
                     /calculated_mol_wt=98461
     Region          <5..>233
                     /region_name="LHP1"
                     /note="La protein, small RNA-binding pol III transcript
                     stabilizing protein and related La-motif-containing
                     proteins involved in translation [Posttranslational
                     modification, protein turnover, chaperones / Translation,
                     ribosomal structure and biogenesis]; COG5193"
                     /db_xref="CDD:227520"
     Region          169..241
                     /region_name="LAM"
                     /note="LA motif RNA-binding domain; cl02755"
                     /db_xref="CDD:445906"
     Site            order(175,178..179,184,187..188,190,209..211)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:153396"
     Region          648..688
                     /region_name="DM15"
                     /note="Tandem repeat in fly CG14066 (La related protein),
                     human KIAA0731 and worm R144.7. Unknown function;
                     smart00684"
                     /db_xref="CDD:128927"
     Region          689..727
                     /region_name="DM15"
                     /note="Tandem repeat in fly CG14066 (La related protein),
                     human KIAA0731 and worm R144.7. Unknown function;
                     smart00684"
                     /db_xref="CDD:128927"
     CDS             1..855
                     /gene="LARP1B"
                     /gene_synonym="LARP2"
                     /coded_by="XM_011532069.2:168..2735"
                     /db_xref="GeneID:55132"
                     /db_xref="HGNC:HGNC:24704"
ORIGIN      
        1 menwptpsel vntgfqsvls qgnkkpqnrk ekeekvekrs nsdskenret klngpgenvs
       61 edeaqssnqr krgwkrdrek rddqddvssv rseggnirgs frgrgrgrgr grgrgrgnpr
      121 lnfdysygyq ehgertdqpf qtelntsmmy yyddgtgvqv ypveeallke yikrqieyyf
      181 svenlerdff lrgkmdeqgf lpisliagfq rvqalttnln lilealkdst eveivdekmr
      241 kkiepekwpi pgppprsvpp tdfsqlidcp efvpgqafcs htesapnspr igsplspkkn
      301 setsilqams rglstslpdl dsepwievkk rhqpapvklr esvsvpegsl nqlcsseepe
      361 qeeldflfde eieqigrknt ftdwsdndsd yeiddqdlnk ilivtqtppy vkkhpggdrt
      421 gthmsrakit selakvindg lyyyeqdlwm eedenkhtai kqevenfkkl nliskeqfen
      481 ltpelpfepn qevpvapsqs rqdltdelaq klfdvseits aamvhslpta vpesprihpt
      541 rtpktprtpr lqdpnktprf ypvvkepkai dvksprkrkt rhstnpplec hvgwvmdsrd
      601 rgpgtssvst snaspsegap lagsygctph sfpkfqhpsh ellkengftq qvyhkyrrrc
      661 lserkrlgig qsqemntlfr fwsfflrdhf nkkmyeefrq lawedakeny rygleclfrf
      721 ysyglekkfr reifqdfqee tkkdyesgql yglekfwayl kysqsktqsi dpklqeylcs
      781 fkrledfrvd ppisdefgrk rhsstsgees nrhrlppnss tkppnaakpt stselqvpin
      841 sprrnispes sdnsh
//
LOCUS       XP_047272902             422 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein kinase Fer isoform X11 [Homo sapiens].
ACCESSION   XP_047272902
VERSION     XP_047272902.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416946.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..422
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..422
                     /product="tyrosine-protein kinase Fer isoform X11"
                     /calculated_mol_wt=48814
     Region          5..238
                     /region_name="BAR"
                     /note="The Bin/Amphiphysin/Rvs (BAR) domain, a
                     dimerization module that binds membranes and detects
                     membrane curvature; cl12013"
                     /db_xref="CDD:448379"
     Site            order(10,13..14,18,20..21,24..25,27..28,38..39,41..42,
                     45..46,48..49,52,80,83..84,193,196..197,199,205,208..209,
                     211..212,215..216,219..220,222..223,226..227,229..230)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153271"
     Region          107..>393
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..422
                     /gene="FER"
                     /gene_synonym="p94-Fer; PPP1R74; TYK3"
                     /coded_by="XM_047416946.1:106..1374"
                     /db_xref="GeneID:2241"
                     /db_xref="HGNC:HGNC:3655"
                     /db_xref="MIM:176942"
ORIGIN      
        1 mgfgsdlkns heavlklqdw elrlletvkk fmalriksdk eyastlqnlc nqvdkestvq
       61 mnyvsnvsks wllmiqqteq lsrimkthae dlnsgplhrl tmmikdkqqv kksyigvhqq
      121 ieaemikvtk teleklkcsy rqlikemnsa kekykealak gketekaker ydkatmklhm
      181 lhnqyvlalk gaqlhqnqyy ditlplllds lqkmqeemik alkgifdeys qitslvteei
      241 vnvhkeiqms veqidpstey nnfidvhrtt aakeqeiefd tslleenenl qaneimwnnl
      301 taeslqvmlk tlaeelmqtq qmllnkeeav lelekriees setcekksdi vlllsqkqal
      361 eelkqsvqql rcteakfsaq kelleqkvqe ndgkepppvv nyeedarsvt smvllnlfvn
      421 ak
//
LOCUS       XP_016864862            1252 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein KIAA0825 isoform X4 [Homo sapiens].
ACCESSION   XP_016864862
VERSION     XP_016864862.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009373.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1252
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..1252
                     /product="uncharacterized protein KIAA0825 isoform X4"
                     /calculated_mol_wt=144980
     Region          515..832
                     /region_name="DUF4495"
                     /note="Domain of unknown function (DUF4495); pfam14906"
                     /db_xref="CDD:434301"
     CDS             1..1252
                     /gene="KIAA0825"
                     /gene_synonym="C5orf36; PAPA10"
                     /coded_by="XM_017009373.2:258..4016"
                     /db_xref="GeneID:285600"
                     /db_xref="HGNC:HGNC:28532"
                     /db_xref="MIM:617266"
ORIGIN      
        1 mdwddeyshn sfdlhcllns fpgdlefeqi fsdidekieq naasikhcik eiqseinkqc
       61 pgvqlqtttd cfewltnyny stsessfish gdlikffktl qdllkneqnq eemtldllwd
      121 lschssvsfp stlsgtsfhf lsrtslhsve dnssmdvksm wddirlhlrr flvsklqshn
      181 einnsqqkil lkkqclqqll flypesevii kyqniqnkll anllwncfps ynrdsnldvi
      241 ahgyqstmlk lysvikedfn tlceilapss mvkfiketyl dtvteemakf lenfcelqfr
      301 enavrvvkts kssskhrgav halvttecpq kgrnfslpld kveflsqlik sfmklekgvq
      361 elfdeillsl kitrdtsgil eksdrevvme kpranetnip seqslpgkea tlldfgwrsa
      421 fkevslpmah cvvtaiegfs tkilqqeqne rssavsyamn lvnvqqvwqd shmfpeeeqp
      481 kkigkfcsdi mekldtmlpl alacrddsfq eiranlveac ckvatavlqr lqerakevps
      541 kaplknlhty lstavyvfqh fkrydnlmke mtkkpiflvl vqryqefint lqfqvtnycv
      601 rvcatsilqd aeshhwddyk afyegercsf siqmwhyfcw slhydlwtil ppklaqeilv
      661 evlekslsll asryarahps rkrtpqlrld vttilicten mlwsvctsvq kllnphqhtd
      721 dkifkihthc nnlfttlvil tspltelykt fqhgldesas dslksffkqp lywvscishf
      781 ypsllrtpsa gglkaegqlk lllsqprcnw nllletllhh dglllrillk sskrtfqeqv
      841 sdtennlnqg pslmeaifki lyhcsfspqt fanvfvsyme eeqlwdflyn ipvstcveye
      901 levirclrla ltdaikdtvq qivsvmssrr ncetnlnkhi vpdcllesmp kewnyspket
      961 nrkescksft rltaqavsiv isklptviac lpppvkyfff lserkmskkf velkkagllv
     1021 wnliviicri fedgntvell tgasldrwsk eklglicmcl ksimgdqtsi hnqmiqkviq
     1081 sieqqkpnwi erqllkarkl stecafmtie kstalqegdv alelteqkin tmvldlchkp
     1141 ggreylrqiy himqlneeyl keqlfsmnss eekplpirpl kttlrsiedq psafnpfhvy
     1201 kafsenmldq saitkwnwnw akllpnylrl dkmtfsvllk nrlsftntkk hl
//
LOCUS       XP_047273174            1382 aa            linear   PRI 20-MAR-2023
DEFINITION  mitogen-activated protein kinase kinase kinase 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047273174
VERSION     XP_047273174.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417218.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1382
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..1382
                     /product="mitogen-activated protein kinase kinase kinase 1
                     isoform X1"
                     /calculated_mol_wt=150428
     Region          440..495
                     /region_name="RING-CH-C4HC3_ZSWM2"
                     /note="RING-CH finger, H2 subclass (C4HC3-type), found in
                     zinc finger SWIM domain-containing protein 2 (ZSWIM2) and
                     similar proteins; cd16494"
                     /db_xref="CDD:438157"
     Region          1242..>1372
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..1382
                     /gene="MAP3K1"
                     /gene_synonym="MAPKKK1; MEKK; MEKK 1; MEKK1; SRXY6"
                     /coded_by="XM_047417218.1:26..4174"
                     /db_xref="GeneID:4214"
                     /db_xref="HGNC:HGNC:6848"
                     /db_xref="MIM:600982"
ORIGIN      
        1 maaaagnras ssgfpgarat speaggggga lkassapaaa agllreagsg greradwrrr
       61 qlrkvrsvel dqlpeqplfl aasppassts pspepadaag sgtgfqpvav ppphgaasrg
      121 gahltesvaa pdsgasspaa aepgekrapa aepspaaapa gremenketl kglhkmddrp
      181 eermireklk atcmpawkhe wlerrnrrgp vvvkpipvkg dgsemnhlaa espgevqasa
      241 aspaskgrrs pspgnspsgr tvksespgvr rkrvspvpfq sgritpprra pspdgfspys
      301 peetnrrvnk vmrarlyllq qigpnsflig gdspdnkyrv figpqncsca rgtfcihllf
      361 vmlrvfqlep sdpmlwrktl knfeveslfq kyhsrrssri kapsrntiqk fvsrmsnsht
      421 lsssststss sensikdeee qmcpicllgm ldeesltvce dgcrnklhhh cmsiwaeecr
      481 rnreplicpl crskwrshdf yshelsspvd spsslraaqq qtvqqqplag srrnqesnfn
      541 lthygtqqip paykdlaepw iqvfgmelvg clfsrnwnvr emalrrlshd vsgalllang
      601 estgnsggss gsspsggats gssqtsisgd vveaccsvls mvcadpvykv yvaalktlra
      661 mlvytpchsl aeriklqrll qpvvdtilvk cadansrtsq lsistllelc kgqagelavg
      721 reilkagsig iggvdyvlnc ilgnqtesnn wqellgrlcl idrlllefpa efyphivstd
      781 vsqaepveir ykkllslltf alqsidnshs mvgklsrriy lssarmvttv phvfskllem
      841 lsvsssthft rmrrrlmaia deveiaeaiq lgvedtldgq qdsflqasvp nnylettens
      901 spectvhlek tgkglcatkl sassediser lasisvgpss stttttttte qpkpmvqtkg
      961 rphsqclnss plshhsqlmf palstpssst psvpagtatd vskhrlqgfi pcripsaspq
     1021 tqrkfslqfh rncpenkdsd klspvftqsr plpssnihrp kpsrptpgnt skqgdpskns
     1081 mtldlnsssk cddsfgcssn ssnavipsde tvftpveekc rldvntelns siedlleasm
     1141 pssdttvtfk sevavlspek aenddtykdd vnhnqkckek meaeeeeala iamamsasqd
     1201 alpivpqlqv engediiiiq qdtpetlpgh tkakqpyred tewlkgqqig lgafsscyqa
     1261 qdvgtgtlma vkqvtyvrnt sseqeevvea lreeirmmsh lnhpniirml gatceksnyn
     1321 lfiewmaggs vahllskyga fkesvvinyt eqllrglsyl henqiihrdv kgtkrstvwk
     1381 el
//
LOCUS       XP_016865426             968 aa            linear   PRI 20-MAR-2023
DEFINITION  anion exchange protein 4 isoform X6 [Homo sapiens].
ACCESSION   XP_016865426
VERSION     XP_016865426.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009937.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_016865426.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..968
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..968
                     /product="anion exchange protein 4 isoform X6"
                     /calculated_mol_wt=106185
     Region          57..900
                     /region_name="Band_3_cyto"
                     /note="Band 3 cytoplasmic domain; cl26877"
                     /db_xref="CDD:452680"
     CDS             1..968
                     /gene="SLC4A9"
                     /gene_synonym="AE4"
                     /coded_by="XM_017009937.2:44..2950"
                     /db_xref="GeneID:83697"
                     /db_xref="HGNC:HGNC:11035"
                     /db_xref="MIM:610207"
ORIGIN      
        1 memklpgqeg feassaprni psgeldsnpd pgtgpspdgp sdteskelgv pkdpllfiql
       61 nellgwpqal ewretgsssa sllldmgemp sitlsthlhh rwvlfeekle vaagrwsaph
      121 vptlalpslq klrsllaegl vlldcpaqsl lelvgsthpr kasdneeapl reqcqnplrq
      181 klppgaeagt vlagelgfla qplgafvrlr npvvlgslte vslpsrffcl llgpcmlgkg
      241 yhemgraaav llsdpqfqws vrrasnlhdl laaldaflee vtvlppgrwd ptaripppkc
      301 lpsqhkrlps qqreirgpav prltsaedrh rhgphahspe lqrtgrlfgg liqdvrrkvp
      361 wypsdfldal hlqcfsavly iylatvtnai tfggllgdat dgaqgvlesf lgtavagaaf
      421 clmagqplti lsstgpvlvf erllfsfsrd ysldylpfrl wvgiwvatfc lvlvateasv
      481 lvryftrfte egfcalisli fiydavgkml nlthtypiqk pgssaygclc qypgpggnes
      541 qwirtrpkdr ddivsmdlgl inasllpppe ctrqgghprg pgchtvpdia ffslllflts
      601 fffamalkcv ktsrffpsvv rkglsdfssv laillgcgld aflglatpkl mvprefkptl
      661 pgrgwlvspf ganpwwwsva aalpalllsi lifmdqqita vilnrmeyrl qkgagfhldl
      721 fcvavlmllt salglpwyvs atvislahmd slrresraca pgerpnflgi reqrltglvv
      781 filtgasifl apvlkfipmp vlygiflymg vaalssiqft nrvklllmpa khqpdllllr
      841 hvpltrvhlf taiqlaclgl lwiikstpaa iifplmllgl vgvrkalerv fspqellwld
      901 elmpeeersi pekglepehs fsgsdsedft gaysgsqdif glwlnfqmls rlgeglkgsc
      961 qdlsyllt
//
LOCUS       XP_047274129             472 aa            linear   PRI 20-MAR-2023
DEFINITION  cannabinoid receptor 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047274129
VERSION     XP_047274129.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418173.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..472
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..472
                     /product="cannabinoid receptor 1 isoform X1"
                     /calculated_mol_wt=52727
     Region          117..408
                     /region_name="7tmA_CB1"
                     /note="cannabinoid receptor subtype 1, member of the class
                     A family of seven-transmembrane G protein-coupled
                     receptors; cd15340"
                     /db_xref="CDD:320462"
     Region          118..144
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320462"
     Region          152..177
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320462"
     Site            order(173,192..193,196..197,200,279,356,363,380,383)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:320462"
     Region          189..219
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320462"
     Region          231..251
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320462"
     Region          271..300
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320462"
     Region          336..366
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320462"
     Region          376..401
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320462"
     CDS             1..472
                     /gene="CNR1"
                     /gene_synonym="CANN6; CB-R; CB1; CB1A; CB1K5; CB1R; CNR"
                     /coded_by="XM_047418173.1:1947..3365"
                     /db_xref="GeneID:1268"
                     /db_xref="HGNC:HGNC:2159"
                     /db_xref="MIM:114610"
ORIGIN      
        1 mksildglad ttfrtittdl lyvgsndiqy edikgdmask lgyfpqkfpl tsfrgspfqe
       61 kmtagdnpql vpadqvnite fynkslssfk eneeniqcge nfmdiecfmv lnpsqqlaia
      121 vlsltlgtft vlenllvlcv ilhsrslrcr psyhfigsla vadllgsvif vysfidfhvf
      181 hrkdsrnvfl fklggvtasf tasvgslflt aidryisihr playkrivtr pkavvafclm
      241 wtiaiviavl pllgwncekl qsvcsdifph idetylmfwi gvtsvlllfi vyaymyilwk
      301 ahshavrmiq rgtqksiiih tsedgkvqvt rpdqarmdir laktlvlilv vliicwgpll
      361 aimvydvfgk mnkliktvfa fcsmlcllns tvnpiiyalr skdlrhafrs mfpscegtaq
      421 pldnsmgdsd clhkhannaa svhraaesci kstvkiakvt msvstdtsae al
//
LOCUS       XP_011512622            4628 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein axonemal heavy chain 8 isoform X3 [Homo sapiens].
ACCESSION   XP_011512622
VERSION     XP_011512622.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514320.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4628
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..4628
                     /product="dynein axonemal heavy chain 8 isoform X3"
                     /calculated_mol_wt=529733
     Region          277..831
                     /region_name="DHC_N1"
                     /note="Dynein heavy chain, N-terminal region 1; pfam08385"
                     /db_xref="CDD:429963"
     Region          1255..4276
                     /region_name="DYN1"
                     /note="Dynein, heavy chain [Cytoskeleton]; COG5245"
                     /db_xref="CDD:227570"
     Region          1406..1811
                     /region_name="DHC_N2"
                     /note="Dynein heavy chain, N-terminal region 2; pfam08393"
                     /db_xref="CDD:429971"
     Region          1946..2273
                     /region_name="AAA_6"
                     /note="Hydrolytic ATP binding site of dynein motor region
                     D1; pfam12774"
                     /db_xref="CDD:432774"
     Region          4330..4625
                     /region_name="Dynein_C"
                     /note="Dynein heavy chain C-terminal domain; pfam18199"
                     /db_xref="CDD:436342"
     CDS             1..4628
                     /gene="DNAH8"
                     /gene_synonym="ATPase; hdhc9; SPGF46"
                     /coded_by="XM_011514320.3:140..14026"
                     /db_xref="GeneID:1769"
                     /db_xref="HGNC:HGNC:2952"
                     /db_xref="MIM:603337"
ORIGIN      
        1 mekdaedgap segaeappst eeaapprsee eeaprpptve apaedgfsps aedavssvvd
       61 yrdlipseeg ivlpddhead lnrvrqrlap rpvqsvisev lslpssrrss ryrrsmsglp
      121 nlqetlkerq arfrearesr rlkidpsyky ifeilaenlg ldivtveeli ldcpsealft
      181 vldaskglln girdmlanif lpavlatnnw galnqskqge sekhifteti nrylsfldga
      241 risiegtvkl ktidnvnfsk lhtfeevtaa asnsetvhql eevlmvwykq ieqvlieseq
      301 mrkeagdsgp ltelehwkrm sakfnyiieq ikgpsckavi nvlnvahskl lknwrdldar
      361 itdtaneskd nvrylytlek vcqplynhdl vsmahgiqnl inairmihgv sryyntserm
      421 tslfikvtnq mvtackayit dgglnhvwdq etpvvlkkiq dciflfkeyq asfhktrkli
      481 sessgeksfe vsemyifgkf eafckrleki temitvvqty stlsnstieg idimaikfrn
      541 iyqgvkkkqy dildprrtef dtdfldfmtk inglevqiqa fmnssfgkil ssqqalqllq
      601 rfqklnipcl gleinhtier ilqyyvaeld atkklyhsqk ddpplarnmp piagkilwvr
      661 qlyrrisepi nyffknsdil sspdgkavir qynkisyvlv efevvyhtaw ireisqlhya
      721 lqatlfvrhp etgkllvnfd pkilevvret kcmikmkldv peqakrllkl esklkadkly
      781 lqgllqyyde lcqevpsvfv nlmtpkmkkv esvlrqgltv ltwssltles ffqevelvld
      841 mfnqllkkis dlcemhidtv lkeiaktvli slpesgatkv edmltlnety tkewadilnh
      901 kskhveeavr elisifeqiy evkytgkvgk qseqrkhvvf gsetgegenn dyeanivnef
      961 dthdkedefk keckevfaff shqlldslqk atrlsldtmk rrifvaslyg rkqsediisf
     1021 iksevhlaip nvvmipsldd iqqainrmiq ltlevsrgva hwgqqqirpi ksvipspttt
     1081 dvthqntgkl lkkeersfee aiparklknf ypgvaehkdi sklvlllsss vnslrkaahe
     1141 alqdfqkykt lwtedrdvkv keflannpsl teirseilhy atfeqeidel kpiivvgale
     1201 lhtepmklal sieakawkml lcrylneeyk kkmsymiafi neylkklsrp irdlddvrfa
     1261 mealscirdn eiqmdmtlgp ieeayailnr fevevtkees eavdtlrysf nklqskavsv
     1321 qedlvqvqpk fksnllesve vfredvinfa eayelegpmv pnippqeasn rlqifqasfd
     1381 dlwrkfvtys sgeqlfglpv tdyevlhktr kelnllqkly glydtvmssi sgyyeilwgd
     1441 vdiekinael lefqnrcrkl pkglkdwqaf ldlkkriddf sescpllemm tnkamkqrhw
     1501 driseltgtp fdvesdsfcl rnimeapllk hkddiedici saikekdiea kltqvienwt
     1561 nqnlsfaafk gkgelllkgt esgeiitlme dslmvlgsll snrynapfkk niqnwvykls
     1621 tssdiieewl vvqnlwvyle avfvggdiak qlpqeakrfq nidkswikim qrahenpnvi
     1681 nccvgdetmg qllphlheql evcqksltgy lekkrllfpr fffvsdpvll eilgqasdsh
     1741 tiqphlpavs dninevtfha kdydrimavi sregekivld nsvmakgpve iwlldllkmq
     1801 msslhniirs afyqisdsgf qllpflshfp aqvgllgiqm lwthdseeal rnakddrkim
     1861 qvtnqkfldi lntlisqtth dlskfdrvkf etlitihvhq rdifddlvkm hiksptdfew
     1921 lkqsrfyfke dldqtvvsit dvdfiyqnef lgctdrlvit pltdrcyitl aqalgmnmgg
     1981 apagpagtgk tettkdmgrc lgkyvvvfnc sdqmdfrglg rifkglaqsg swgcfdefnr
     2041 ielpvlsvaa qqiyivltar kerkkqfifs dgdcvdlnpe fgifltmnpg yagrqelpen
     2101 lkiqfrtvam mvpdrqiimr vklascgfle nvilaqkfyv lyklceeqlt kqvhydfglr
     2161 nilsvlrtlg sqkrarpeds elsivmrglr dmnlsklvde deplflslin dlfpglqlds
     2221 ntyaelqnav ahqvqiegli nhppwnlklv qlyetslvrh glmtlgpsgs gkttvitilm
     2281 kaqtecgrph remrmnpkai tapqmfgrld tatndwtdgi fstlwrktlk akkgenifli
     2341 ldgpvdaiwi enlnsvlddn ktltlangdr ipmapsckll fevhnienas patvsrmgmv
     2401 yisssalswr pilqawlkkr taqeaavflt lyekvfedty tymklnlnpk mqllecnyiv
     2461 qslnllegli pskeeggvsc vehlhklfvf glmwslgall elesreklea flrqheskld
     2521 lpeipkgsnq tmyefyvtdy gdwehwnkkl qpyyyptdsi peyssilvpn vdnirtnfli
     2581 dtiakqhkav lltgeqgtak tvmvkaylkk ydpevqlsks lnfssatepm mfqrtiesyv
     2641 dkrigstygp pggrkmtvfi ddinmpvine wgdqitneiv rqmmemegmy sldkpgdftt
     2701 ivdvqliaam ihpgggrndi pqrlkrqftv fnctlpsnas idkifgiigc gyfdpcrsfk
     2761 pqicemivnl vsvgrvlwqw tkvkmlptps kfhyifnlrd lsriwqgmlt ikaeecasip
     2821 tllslfkhec srviadrfit pedeqwfnah ltraveenig sdaascilpe pyfvdflrem
     2881 peptgdeped svfevpkiye lmpsfdflae klqfyqrqfn eiirgtsldl vffkdamthl
     2941 ikisriirts cgnallvgvg gsgkqslsrl asfiagyqif qitltrsynv tnltddlkal
     3001 ykvagadgkg itfiftdsei kdeafleyln nllssgeisn lfardemdei tqglisvmkr
     3061 elprhpptfd nlyeyfisrs rknlhvvlcf spvgekfrar slkfpglisg ctmdwfsrwp
     3121 realiavasy flsdynivcs seikrqvvet mglfhdmvse scesyfqryr rrahvtpksy
     3181 lsfingykni yaekvkfine qaermnigld klmeasesva klsqdlavke kelavasika
     3241 devlaevtvs aqasakikne vqevkdkaqk ivdeidsekv kaeskleaak paleeaeaal
     3301 ntikpndiat vrklakpphl imrimdcvll lfqkkidpvt mdpekscckp swgeslklms
     3361 atgflwslqq fpkdtineet vellqpyfnm ddytfesakk vcgnvaglls wtlamaifyg
     3421 inrevlplka nlakqegrla vanaelgkaq alldekqael dkvqakfdaa mnekmdllnd
     3481 adtcrkkmqa astlidglsg ekirwtqqsk efkaqinrlv gdillctgfl sylgpfnqif
     3541 rnyllkdqwe melrarkipf tenlnlisml vdpptigewg lqglpgddls iqngiivtka
     3601 trypllidpq tqgktwiksk ekendlqvts lnhkyfrthl edslslgrpl liediheeld
     3661 paldnvlekn fiksgttfkv kvgdkecdim dtfklyittk lpnpaftpei naktsvidft
     3721 vtmkglenql lrrviltekq eleaervkll edvtfnkrkm kelednllyk lsatkgslvd
     3781 desligvlrt tkqtaaevse klhvaaetei kinaaqeefr paatrgsily flitemsmvn
     3841 imyqtslaqf lklfdqsmar seksplpqkr itniieylty evftysvrgl yenhkflfvl
     3901 lmtlkidlqr gtvkhrefqa likggaaldl kacppkpyrw ildmtwlnlv elsklpqfae
     3961 imnqisrnek gwkswfdkda peeeiipdgy ndsldtchkl llirswcpdr tvfqarkyia
     4021 dsleekytep vilnlektwe esdtrtplic flsmgsdptn qidalakklk lecrtismgq
     4081 gqevharkli qmsmqqggwv llqnchlgle fmeelletli tteasddsfr vwittephdr
     4141 fpitllqtsl kftneppqgv raglkrtfag inqdlldisn lpmwkpmlyt vaflhstvqe
     4201 rrkfgplgwn ipyefnsadf sasvqfiqnh ldecdikkgv swntvrymig evqyggrvtd
     4261 dfdkrllncf arvwfsekmf epsfcfytgy kiplcktldq yfeyiqslps ldnpevfglh
     4321 pnadityqsn tasavletit niqpkesggg vgetreaivy rlsedmlskl ppdyiphevk
     4381 srlikmghln smniflrqei drmqrvisil rsslsdlkla iegtiimsen lrdaldnmyd
     4441 aripqlwkrv swdsstlgfw ftellernaq fstwifegrp nvfwmtgffn pqgfltamrq
     4501 evtrahkgwa ldtvtihnev lrqtkeeits ppgegvyiyg lymdgaawdr rngklmestp
     4561 kvlftqlpvl hifainstap kdpklyvcpi ykkprrtdlt fitvvylrtv lspdhwilrg
     4621 vallcdik
//
LOCUS       XP_005249039             966 aa            linear   PRI 20-MAR-2023
DEFINITION  gamma-aminobutyric acid type B receptor subunit 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_005249039
VERSION     XP_005249039.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005248982.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..966
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..966
                     /product="gamma-aminobutyric acid type B receptor subunit
                     1 isoform X1"
                     /calculated_mol_wt=108732
     Region          112..162
                     /region_name="Sushi"
                     /note="Sushi repeat (SCR repeat); pfam00084"
                     /db_xref="CDD:425458"
     Site            order(116,137)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          176..575
                     /region_name="PBP1_GABAb_receptor"
                     /note="ligand-binding domain of GABAb receptors, which are
                     metabotropic transmembrane receptors for
                     gamma-aminobutyric acid (GABA); cd06366"
                     /db_xref="CDD:380589"
     Site            order(192,273..274,471)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:380589"
     Site            order(228,231..232,234..235,239,260..261,263..265)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:380589"
     Region          595..867
                     /region_name="7tmC_GABA-B-R1"
                     /note="gamma-aminobutyric acid type B receptor subunit 1,
                     member of the class C family of seven-transmembrane G
                     protein-coupled receptors; cd15291"
                     /db_xref="CDD:320418"
     Region          595..620
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320418"
     Site            order(598,601..602,605..606,608..609,643,647,650..651,666,
                     670)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:320418"
     Region          632..653
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320418"
     Site            order(652,671..672,675..676,679,770,775,778..779,782,817,
                     820..821,824,828,838..839,842,845,849)
                     /site_type="other"
                     /note="putative allosteric modulator binding site
                     [chemical binding]"
                     /db_xref="CDD:320418"
     Region          669..693
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320418"
     Region          715..735
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320418"
     Region          771..797
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320418"
     Region          806..829
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320418"
     Region          836..861
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320418"
     CDS             1..966
                     /gene="GABBR1"
                     /gene_synonym="GABABR1; GABBR1-3; GB1; GPRC3A"
                     /coded_by="XM_005248982.3:87..2987"
                     /db_xref="GeneID:2550"
                     /db_xref="HGNC:HGNC:4070"
                     /db_xref="MIM:603540"
ORIGIN      
        1 mpgawmllll llaplflrpp gaggaqtpna tsegcqiihp pweggiryrg ltrdqvkain
       61 flpvdyeiey vcrgerevvg pkvrkclang swtdmdtpsr cvricsksyl tlengkvflt
      121 ggdlpaldga rvdfrcdpdf hlvgssrsic sqgqwstpkp hcqvnrtphs erravyigal
      181 fpmsggwpgg qacqpavema ledvnsrrdi lpdyelklih hdskcdpgqa tkylyellyn
      241 dpikiilmpg cssvstlvae aarmwnlivl sygssspals nrqrfptffr thpsatlhnp
      301 trvklfekwg wkkiatiqqt tevftstldd leervkeagi eitfrqsffs dpavpvknlk
      361 rqdariivgl fyetearkvf cevykerlfg kkyvwfligw yadnwfkiyd psinctvdem
      421 teaveghitt eivmlnpant rsisnmtsqe fvekltkrlk rhpeetggfq eaplaydaiw
      481 alalalnkts ggggrsgvrl edfnynnqti tdqiyramns ssfegvsghv vfdasgsrma
      541 wtlieqlqgg sykkigyyds tkddlswskt dkwiggsppa dqtlviktfr flsqklfisv
      601 svlsslgivl avvclsfniy nshvryiqns qpnlnnltav gcslalaavf plgldgyhig
      661 rnqfpfvcqa rlwllglgfs lgygsmftki wwvhtvftkk eekkewrktl epwklyatvg
      721 llvgmdvltl aiwqivdplh rtietfakee pkedidvsil pqlehcssrk mntwlgifyg
      781 ykglllllgi flayetksvs tekindhrav gmaiynvavl clitapvtmi lssqqdaafa
      841 faslaivfss yitlvvlfvp kmrrlitrge wqseaqdtmk tgsstnnnee eksrlleken
      901 relekiiaek eervselrhq lqsrqqlrsr rhpptppeps gglprgppep pdrlscdgsr
      961 vhllyk
//
LOCUS       XP_011513007             746 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil alpha-helical rod protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_011513007
VERSION     XP_011513007.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514705.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..746
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..746
                     /product="coiled-coil alpha-helical rod protein 1 isoform
                     X2"
                     /calculated_mol_wt=84679
     Region          1..737
                     /region_name="HCR"
                     /note="Alpha helical coiled-coil rod protein (HCR);
                     pfam07111"
                     /db_xref="CDD:284517"
     CDS             1..746
                     /gene="CCHCR1"
                     /gene_synonym="C6orf18; HCR; pg8; SBP"
                     /coded_by="XM_011514705.2:239..2479"
                     /db_xref="GeneID:54535"
                     /db_xref="HGNC:HGNC:13930"
                     /db_xref="MIM:605310"
ORIGIN      
        1 mfppsghqdv serrldtqrp qvtmwerdvs sdrqepgrrg rswglegsqa lsqqaevivr
       61 qlqelrrlee evrllretsl qqkmrleaqa melealarae kagraeaegl raalagaevv
      121 rknleegsqr eleevqrlhq eqlssltqah eealssltsk aeglekslss letrrageak
      181 elaeaqreae llrkqlsktq edleaqvtlv enlrkyvgeq vpsevhsqtw elerqkllet
      241 mqhlqedrds lhataellqv rvqslthila lqeeeltrkv qpsdslepef trkcqsllnr
      301 wrekvfalmv qlkaqelehs dsvkqlkgqv aslqekvtsq sqeqailqrs lqdkaaevev
      361 ermgakglql elsraqearr rwqqqtasae eqlrlvvnav sssqiwlett makvegaaaq
      421 lpslnnrlsy avrkvhtirg liarklalaq lrqescplpp pvtdvslelq qlreernrld
      481 aelqlsarli qqevgrareq geaerqqlsk vaqqleqelq qtqeslaslg lqlevarqgq
      541 qesteeaasl rqeltqqqel ygqalqekva evetrlreql sdterrlnea rrehakavvs
      601 lrqiqrraaq ekersqelrr lqeearkeeg qrlarrlqel erdknlmlat lqqegllsry
      661 kqqrlltvlp slldkkksvv ssprppecsa sapvaaavpt resikgslsv llddlqdlse
      721 aiskeeavcq gdnldrcsss npqmss
//
LOCUS       XP_047275577             221 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124901299 isoform X1 [Homo sapiens].
ACCESSION   XP_047275577
VERSION     XP_047275577.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419621.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..221
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..221
                     /product="uncharacterized protein LOC124901299 isoform X1"
                     /calculated_mol_wt=23500
     CDS             1..221
                     /gene="LOC124901299"
                     /coded_by="XM_047419621.1:79..744"
                     /db_xref="GeneID:124901299"
ORIGIN      
        1 mesqravgvw gaggttylsh wpclcapgpk pqkdsvsdwa ivlitltlva aivslmygik
       61 kacqfrrems lgcgcgsvtp ysshhegeaa sqryscqmkg rflgslappg lfhpqrkees
      121 tvshkillsv lppamqtagr cpaspravfs svegrtrakw sagtfqpsrs pgldswnpcp
      181 spslpsptll pddqrsslae dslltasllt slhreppqag s
//
LOCUS       XP_047276604             225 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphoserine phosphatase isoform X1 [Homo sapiens].
ACCESSION   XP_047276604
VERSION     XP_047276604.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420648.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..225
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..225
                     /product="phosphoserine phosphatase isoform X1"
                     /calculated_mol_wt=24877
     Region          15..216
                     /region_name="HAD_PSP_eu"
                     /note="phosphoserine phosphatase eukaryotic-like, similar
                     to human phosphoserine phosphatase; cd04309"
                     /db_xref="CDD:319801"
     Site            order(20..24,29,109..110,158,178..179,182..183)
                     /site_type="active"
                     /db_xref="CDD:319801"
     CDS             1..225
                     /gene="PSPH"
                     /gene_synonym="PSP; PSPHD"
                     /coded_by="XM_047420648.1:963..1640"
                     /db_xref="GeneID:5723"
                     /db_xref="HGNC:HGNC:9577"
                     /db_xref="MIM:172480"
ORIGIN      
        1 mvshselrkl fysadavcfd vdstvireeg idelakicgv edavsemtrr amggavpfka
       61 alterlaliq psreqvqrli aeqpphltpg irelvsrlqe rnvqvflisg gfrsivehva
      121 sklnipatnv fanrlkfyfn geyagfdetq ptaesggkgk vikllkekfh fkkiimigdg
      181 atdmeacppa dafigfggnv irqqvkdnak wyitdfvell gelee
//
LOCUS       XP_047276746             106 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein LOC728743 isoform X2 [Homo sapiens].
ACCESSION   XP_047276746
VERSION     XP_047276746.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420790.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..106
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..106
                     /product="zinc finger protein LOC728743 isoform X2"
                     /calculated_mol_wt=11126
     Region          37..57
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          39..56
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..106
                     /gene="LOC728743"
                     /coded_by="XM_047420790.1:258..578"
                     /db_xref="GeneID:728743"
ORIGIN      
        1 mtelassggg spagdgeegl gderglvihh paeeqpyrcp lcgqtfsqqp slvrhqkaha
       61 gagraaafvc pecgkafsvk hnlenvrver dlerplstnp tpnlsp
//
LOCUS       XP_011515211             513 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized aarF domain-containing protein kinase 5 isoform X2
            [Homo sapiens].
ACCESSION   XP_011515211
VERSION     XP_011515211.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011516909.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..513
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..513
                     /product="uncharacterized aarF domain-containing protein
                     kinase 5 isoform X2"
                     /calculated_mol_wt=58027
     Region          102..342
                     /region_name="ADCK1-like"
                     /note="aarF domain containing kinase 1 and similar
                     proteins; cd13969"
                     /db_xref="CDD:270871"
     Site            order(152..156,158,168,170,229,248..251,293,297..298,300,
                     314..315)
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:270871"
     CDS             1..513
                     /gene="ADCK5"
                     /coded_by="XM_011516909.2:284..1825"
                     /db_xref="GeneID:203054"
                     /db_xref="HGNC:HGNC:21738"
ORIGIN      
        1 maearekrrm rlvvdgmgrf grslkvglqi sldywwctnv vlrgveensp gylevmsach
       61 qraadalvag aisngglyvk lgqglcsfnh llppeytrtl rvledralkr gfqevdelfl
      121 edfqalphel fqefdyqpia aaslaqvhra klhdgtsvav kvqyidlrdr fdgdihtlel
      181 llrlvevmhp sfgfswvlqd lkgtlaqeld fenegrnaer carelahfpy vvvprvhwdk
      241 sskrvltadf cagckvndve airsqglavh diaeklikaf aeqifytgfi hsdphpgnvl
      301 vrkgpdgkae lvlldhglyq fleekdraal cqlwraiilr ddaamrahaa algvqdyllf
      361 aemlmqrpvr lgqlwgshll sreeaaymvd marerfeavm avlrelprpm llvlrnintv
      421 rainvalgap vdryflmakr avrgwsrlag atyrgvygts llrhakvvwe mlkfevalrl
      481 etlamrltal laralvhlsl vppaeelyqy let
//
LOCUS       XP_047278718             192 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF183 isoform X1 [Homo sapiens].
ACCESSION   XP_047278718
VERSION     XP_047278718.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422762.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..192
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..192
                     /product="E3 ubiquitin-protein ligase RNF183 isoform X1"
                     /calculated_mol_wt=21486
     Region          11..66
                     /region_name="RING-HC_RNF183-like"
                     /note="RING finger, HC subclass, found in RING finger
                     protein RNF183, RNF223, RNF225 and similar proteins;
                     cd16556"
                     /db_xref="CDD:438218"
     CDS             1..192
                     /gene="RNF183"
                     /coded_by="XM_047422762.1:3630..4208"
                     /db_xref="GeneID:138065"
                     /db_xref="HGNC:HGNC:28721"
ORIGIN      
        1 maeqqgrele aecpvcwnpf nntfhtpkml dcchsfcvec lahlslvtpa rrrllcplcr
       61 qptvlasgqp vtdlptdtam lallrlephh vileghqlcl kdqpksryfl rqpqvytldl
      121 gpqpggqtgp ppdtasatvs tpilipshhs lrecfrnpqf rifaylmavi lsvtlllifs
      181 ifwtkqflwg vg
//
LOCUS       XP_011517360             366 aa            linear   PRI 20-MAR-2023
DEFINITION  G kinase-anchoring protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_011517360
VERSION     XP_011517360.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011519058.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..366
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..366
                     /product="G kinase-anchoring protein 1 isoform X1"
                     /calculated_mol_wt=41947
     Region          217..>366
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..366
                     /gene="GKAP1"
                     /gene_synonym="FKSG21; GKAP42"
                     /coded_by="XM_011519058.3:520..1620"
                     /db_xref="GeneID:80318"
                     /db_xref="HGNC:HGNC:17496"
                     /db_xref="MIM:611356"
ORIGIN      
        1 masavlssvp ttasrfallq vdsgsgsdse pgkgkgrntg ksqtlgskst tnekkrekrr
       61 kkkeqqqsea nelrnlafkk ipqksshavc naqhdlplsn pvqkdsreen wqewrqrdeq
      121 ltsemfeadl ekalllskle yeehkkeyed aentstqskv mnkkdkrknh qgkdrpltvs
      181 lkdfhsedhi skkteelsss qtlshdggff nrleddvhki lirekrreql teyngtdnct
      241 ahehnqevvl kdgrierlkl elerkdaeiq klknvitqwe akykevkarn aqllkmlqeg
      301 emkdkaeill qvdesqsikn eltiqvtslh aaleqerskv kvlqaelaky qggrkgkrns
      361 esdqcr
//
LOCUS       XP_047280191            2332 aa            linear   PRI 20-MAR-2023
DEFINITION  protein transport protein Sec16A isoform X12 [Homo sapiens].
ACCESSION   XP_047280191
VERSION     XP_047280191.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424235.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2332
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..2332
                     /product="protein transport protein Sec16A isoform X12"
                     /calculated_mol_wt=249382
     Region          <4..298
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1497..1859
                     /region_name="ACE1-Sec16-like"
                     /note="Ancestral coatomer element 1 (ACE1) of COPII coat
                     complex assembly protein Sec16; cd09233"
                     /db_xref="CDD:187750"
     Site            order(1616..1617,1619..1620,1622..1626,1628,1630,1640,
                     1642,1644..1645,1647..1648,1652,1658,1665,1674,1679,1682,
                     1710..1711)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:187750"
     Site            order(1782,1804..1805,1807..1808,1811..1812,1815,
                     1842..1843,1846..1847,1850,1854)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:187750"
     CDS             1..2332
                     /gene="SEC16A"
                     /gene_synonym="KIAA0310; p250; SEC16L"
                     /coded_by="XM_047424235.1:345..7343"
                     /db_xref="GeneID:9919"
                     /db_xref="HGNC:HGNC:29006"
                     /db_xref="MIM:612854"
ORIGIN      
        1 mqpppqtvps gmagpppagn prsvfwassp yrrrannnaa vapttcplqp vtdpfafsrq
       61 alqstplgss skssppvlqg papagfsqhp gllvphthar dssqgpcepl pgpltqprah
      121 aspfsgaltp sappgpemnr saevgpssep evqtlpylph yipgvdpets hgghphgnmp
      181 gldrplsrqn phdgvvtpaa spslpqpglq mpgqwgpvqg gpqpsgqhrs pcpegpvpsg
      241 vpcatsvphf ptpsilhqgp gheqhsplva ppaalpsdgr devshlqsgs hlannsdpes
      301 tfrqnprivn hwaspelrqn pgvknehrpa salvnplarg dspenrthhp lgagagsgca
      361 pleadsgasg alamffqgge teneenlsse kaglsgqadf ddfcsspglg rppapthvga
      421 gslcqallpg psneaagdvw gdtastgvpd asgsqyenve nlefvqnqev lpseplnldp
      481 sspsdqfryg plpgpavprh gavchtgapd atlhtvhpds vsssyssrsh grlsgsarpq
      541 elvgtfiqqe vgkpedeasg sffkqidssp vggetdettv sqnyrgsvsq pstpsppkpt
      601 gifqtsanss fepvkshlvg vkpfeadran vvgevretcv rqkqcrpaaa lpdaspgnle
      661 qppdnmetlc apqvcplpln stteavhmlp hagappldtv ypapekrpsa rtqgpvkces
      721 pattlwaqse lpdfggnvll apaapalyvc akpqppvvqp peeamsgqqs rnpssaapvq
      781 srggigasen lenppkmgee ealqsqassg yasllssppt eslqnppvli aqpdhsynla
      841 qpinfsvsls nsheknqswr ealvgdrpav sswalggdsg entslsgipt ssvlslslps
      901 svaqsnfpqg sgasemvsnq panllvqpps qpvpenlvpe sqkdrkagsa lpgfanspag
      961 stsvvlvppa hgtlvpdgnk anhsshqedt ygaldftlsr tlenpvnvyn pshsdslasq
     1021 qsvashprqs gpgapnldrf yqqvtkdaqg qpgleraqqe lvppqqqasp pqlpkamfse
     1081 lsnpeslpaq gqaqnsaqsp aslvlvdagq qlpprppqss svslvssgsg qaavpseqpw
     1141 pqpvpalapg pppqdlaayy yyrplydayq pqyslpyppe pgaaslyyqd vyslyepryr
     1201 pydgaasaya qnyrypeper pssrashsse rppprqgype gyyssksgws sqsdyyasyy
     1261 ssqydygdpg hwdryhysar vrdprtydrr ywcdaeyday rrehsafgdr pekrdnnwry
     1321 dprftgsfdd dpdphrdpyg eevdrrsvhs ehsarslhsa hslasrrssl sshshqsqiy
     1381 rshnvaagsy eaplppgsfh gdfaygtyrs nfssgpgfpe ygypadtvwp ameqvssrpt
     1441 spekfsvphv carfgpggql ikvipnlpse gqpalvevhs meallqhtse qeemrafpgp
     1501 lakddthkvd vinfaqnkam kclqnenlid kesasllwnf ivllcrqngt vvgtdiaell
     1561 lrdhrtvwlp gkspneanli dftneaveqv eeeesgeaql sfltggpaaa asslereter
     1621 frelllygrk kdalesamkn glwghallla skmdsrthar vmtrfanslp indplqtvyq
     1681 lmsgrmpaas tccgdekwgd wrphlamvls nlnnnmdves rtmatmgdtl asrglldaah
     1741 fcylmaqagf gvytkkttkl vligsnhslp flkfatneai qrteayeyaq slgaetcplp
     1801 sfqvfkfiys crlaemglat qafhyceaia ksiltqphly spvlisqlvq masqlrlfdp
     1861 qlkekpeees laaptwlvhl qqverqikeg agvwhqdgal pqqcpgtpss emeqldrpgl
     1921 sqpgalgian pllavpapsp ehsspsvrll psapqtlpdg plasparvpm fpvplppgpl
     1981 epgpgcvtpg palgflepsg pglppgvppl qerrhllqea rspdpgivpq eapvgnslse
     2041 lseenfdgkf anltpsrtvp dseappgwdr adsgptqppl slspapetkr pgqaakketk
     2101 epkkgeswff rwlpgkkkte aylpddknks ivwdekknqw vnlnepeeek kappppptsm
     2161 pktvqaappa lpgppgapvn mysrraagtr aryvdvlnps gtqrsepala padfvaplap
     2221 lpipsnlfvp tpdaeepqlp dgtgregpaa arglanpepa pepklsrcss msslsrevsq
     2281 hfnqapgdlp aaggppsgam pfynpaqlaq acatsgssrl grigqrkhlv ln
//
LOCUS       XP_047280278             200 aa            linear   PRI 20-MAR-2023
DEFINITION  extensin-like [Homo sapiens].
ACCESSION   XP_047280278
VERSION     XP_047280278.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424322.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..200
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..200
                     /product="extensin-like"
                     /calculated_mol_wt=21420
     CDS             1..200
                     /gene="LOC124900275"
                     /coded_by="XM_047424322.1:533..1135"
                     /db_xref="GeneID:124900275"
ORIGIN      
        1 mpihlspysh itqtvphtph tlwphskhtq ttelmsglpw cpplgscpqp qhlppiegrd
       61 ppssvflhfs sgpctkslpv vawtrtpptv ttvtvpppsr sqtplpcfwq epsslpllpl
      121 qtqtspsghp hldfgvphtp pqalasgifg nlnwarglss hlsgastfss vkwantertl
      181 qnlsnvtedi vstasglllg
//
LOCUS       XP_005277886             302 aa            linear   PRI 20-MAR-2023
DEFINITION  deoxyribonuclease-1-like 1 isoform X1 [Homo sapiens].
ACCESSION   XP_005277886
VERSION     XP_005277886.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005277829.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..302
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..302
                     /product="deoxyribonuclease-1-like 1 isoform X1"
                     /calculated_mol_wt=33762
     Region          2..273
                     /region_name="EEP"
                     /note="Exonuclease-Endonuclease-Phosphatase (EEP) domain
                     superfamily; cl00490"
                     /db_xref="CDD:444936"
     Site            order(25..26,28,32,57,59..61,94..95,97,125,148,151,182,
                     184,189,222,226..227,264..265)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:197337"
     Site            order(25,57,97,148,182,184,227,264..265)
                     /site_type="active"
                     /note="putative catalytic site [active]"
                     /db_xref="CDD:197337"
     Site            order(25,57,264)
                     /site_type="other"
                     /note="putative Mg binding site IVb [ion binding]"
                     /db_xref="CDD:197337"
     Site            order(27,148,182,184,265)
                     /site_type="other"
                     /note="putative phosphate binding site [ion binding]"
                     /db_xref="CDD:197337"
     Site            27
                     /site_type="other"
                     /note="actin binding site [polypeptide binding]"
                     /db_xref="CDD:197337"
     Site            order(28,32,59..61,94..95,97,125,148,151,182,184,189,226,
                     265)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:197337"
     Site            order(118,126)
                     /site_type="other"
                     /note="Ca binding site II [ion binding]"
                     /db_xref="CDD:197337"
     Site            order(182,227,265)
                     /site_type="other"
                     /note="putative Mg binding site IVa [ion binding]"
                     /db_xref="CDD:197337"
     Site            order(186,212)
                     /site_type="metal-binding"
                     /note="metal binding site III [ion binding]"
                     /db_xref="CDD:197337"
     Site            order(215,217)
                     /site_type="other"
                     /note="Ca binding site I [ion binding]"
                     /db_xref="CDD:197337"
     CDS             1..302
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /coded_by="XM_005277829.5:780..1688"
                     /db_xref="GeneID:1774"
                     /db_xref="HGNC:HGNC:2957"
                     /db_xref="MIM:300081"
ORIGIN      
        1 mhyptallfl ilangaqafr icafnaqrlt lakvareqvm dtlvrilarc dimvlqevvd
       61 ssgsaiplll relnrfdgsg pystlsspql grstymetyv yfyrshktqv lssyvynded
      121 dvfarepfva qfslpsnvlp slvlvplhtt pkavekelna lydvflevsq hwqskdvill
      181 gdfnadcasl tkkrldklel rtepgfhwvi adgedttvra sthctydrvv lhgercrsll
      241 htaaafdfpt sfqlteeeal nisdhypvev elklsqahsv qplsltvlll lsllspqlcp
      301 aa
//
LOCUS       XP_016885102             188 aa            linear   PRI 20-MAR-2023
DEFINITION  protein SSX4 isoform X1 [Homo sapiens].
ACCESSION   XP_016885102
VERSION     XP_016885102.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029613.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..188
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..188
                     /product="protein SSX4 isoform X1"
                     /calculated_mol_wt=21727
     Region          23..82
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          158..187
                     /region_name="SSXRD"
                     /note="SSXRD motif; pfam09514"
                     /db_xref="CDD:430657"
     CDS             1..188
                     /gene="SSX4B"
                     /gene_synonym="CT5.4"
                     /coded_by="XM_017029613.2:118..684"
                     /db_xref="GeneID:548313"
                     /db_xref="HGNC:HGNC:16880"
ORIGIN      
        1 mngddafarr prddaqisek lrkafddiak yfskkewekm kssekivyvy mklnyevmtk
       61 lgfkvtlppf mrskraadfh gndfgndrnh rnqverpqmt fgslqrifpk impkkpaeee
      121 nglkevpeas gpqndgkqlc ppgnpstlek inktsgpkrg khawthrlre rkqlvvyeei
      181 sdpeedde
//
LOCUS       XP_047298697             323 aa            linear   PRI 20-MAR-2023
DEFINITION  PI-PLC X domain-containing protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047298697
VERSION     XP_047298697.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442741.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000024.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
     Protein         1..323
                     /product="PI-PLC X domain-containing protein 1 isoform X1"
                     /calculated_mol_wt=36537
     Region          27..317
                     /region_name="PI-PLCXD1c"
                     /note="Catalytic domain of phosphatidylinositol-specific
                     phospholipase C, X domain containing 1; cd08616"
                     /db_xref="CDD:176555"
     Site            order(45,106,122,153,202,220,222,302)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:176555"
     Site            order(45,122)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:176555"
     CDS             1..323
                     /gene="PLCXD1"
                     /gene_synonym="LL0XNC01-136G2.1"
                     /coded_by="XM_047442741.1:240..1211"
                     /db_xref="GeneID:55344"
                     /db_xref="HGNC:HGNC:23148"
                     /db_xref="MIM:300974"
ORIGIN      
        1 mggqvsasns fsrlhcrnan edwmsalcpr lwdvplhhls ipgshdtmty clnkkspish
       61 eesrllqlln kalpcitrpv vlkwsvtqal dvteqldagv ryldlriahm legseknlhf
      121 vhmvyttalv edtlteisew lerhprevvi lacrnfegls edlheylvac iknifgdmlc
      181 prgevptlrq lwsrgqqviv syedesslrr hhelwpgvpy wwgnrvktea liryletmks
      241 cgrpgglfva ginltenlqy vlahpsesle kmtlpnlprl sawvreqcpg pgsrctniia
      301 gdfigadgfv sdvialnqkl lwc
//
LOCUS       XP_016885559            1246 aa            linear   PRI 20-MAR-2023
DEFINITION  histone demethylase UTY isoform X23 [Homo sapiens].
ACCESSION   XP_016885559
VERSION     XP_016885559.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017030070.3
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000024.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 5% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1246
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
     Protein         1..1246
                     /product="histone demethylase UTY isoform X23"
                     /calculated_mol_wt=136890
     Region          90..118
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(91,94..95,98..99,101,128,131..132,135..136,138..139,
                     162,168..169,172..173,176)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          103..375
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          126..156
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          161..191
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          202..230
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          240..275
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(282,285..286,289..290,292,316,319..320,323..324,
                     326..327,350,353..354,357..358,361)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          282..309
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          314..344
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          349..377
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1193..>1241
                     /region_name="cupin_RmlC-like"
                     /note="RmlC-like cupin superfamily; cl40423"
                     /db_xref="CDD:454753"
     CDS             1..1246
                     /gene="UTY"
                     /gene_synonym="KDM6AL; KDM6C; UTY1"
                     /coded_by="XM_017030070.3:1006..4746"
                     /db_xref="GeneID:7404"
                     /db_xref="HGNC:HGNC:12638"
                     /db_xref="MIM:400009"
ORIGIN      
        1 mkscavsltt aavafgdeak kmaegkasre seeesvsltv eerealggmd srlfgfvrlh
       61 edgartktll gkavrcyesl ilkaegkves dffcqlghfn llledyskal sayqryyslq
      121 adywknaafl yglglvyfyy nafhwaikaf qdvlyvdpsf crakeihlrl glmfkvntdy
      181 ksslkhfqla lidcnpctls naeiqfhiah lyetqrkyhs akeayeqllq tenlpaqvka
      241 tvlqqlgwmh hnmdlvgdka tkesyaiqyl qksleadpns gqswyflgrc yssigkvqda
      301 fisyrqsidk seasadtwcs igvlyqqqnq pmdalqayic avqldhghaa awmdlgtlye
      361 scnqpqdaik cylnaarskr csntstlaar ikflqaqlcn lpqsslqnkt kllpsieeaw
      421 slpipaelts rqgamntaqq ayrahdpnte hvlnhsqtpi lqqslslhmi tssqveglss
      481 pakkkrtssp tkngsdnwng gqslshhpvq qvyslcltpq klqhleqlra nrdnlnpaqk
      541 hqleqlesqf vlmqqmrhke vaqvrttgih ngaitdsslp tnsvsnrqph galtrvssvs
      601 qpgvrpacve kllssgafsa gcipcgtski lgstdtillg snciagsesn gnvpylqqnt
      661 htlphnhtdl nssteepwrk qlsnsaqayl ghltgfiqdn cnkglhksqs sclsgpneeq
      721 plfstgsaqy hqatstgikk anehltlpsn svpqgdadsh lschtatsgg qqgimftkes
      781 kpsknrslvp etsrhtgdts ngcadvkgls nhvhqliada vsspnhgdsp nlliadnpql
      841 salligkang nvgtgtcdkv nnihpavhtk tdhsvassps saistatpsp ksteqrsins
      901 vtslnsphsg lhtvngeglg ksqsstkvdl plashrstsq ilpsmsvsic psstevlkac
      961 rnpgknglsn scilldkcpp prpptspypp lpkdklnppt psiylenkrd affpplhqfc
     1021 tnpknpvtvi rglagalkld lglfstktlv eannehmvev rtqllqpade nwdptgtkki
     1081 wrcesnrsht tiakyaqyqa ssfqeslree nekrtqhkdh sdnestssen sgrrrkgpfk
     1141 tikfgtnidl sdnkkwklql heltklpafa rvvsagnllt hvghtilgmn tvqlymkvpg
     1201 srtpghqenn nfcsvninig pgdcewfvvp edywgvlndf cenlpv
//
LOCUS       XP_054184425             681 aa            linear   PRI 20-MAR-2023
DEFINITION  phostensin isoform X1 [Homo sapiens].
ACCESSION   XP_054184425
VERSION     XP_054184425.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328450.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167244.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..681
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..681
                     /product="phostensin isoform X1"
                     /calculated_mol_wt=75529
     CDS             1..681
                     /gene="PPP1R18"
                     /gene_synonym="HKMT1098; KIAA1949"
                     /coded_by="XM_054328450.1:209..2254"
                     /db_xref="GeneID:170954"
                     /db_xref="HGNC:HGNC:29413"
                     /db_xref="MIM:610990"
ORIGIN      
        1 mrrqkrreer qemgragpar sscrflpksh egpesratal grraggrdld twrvragsca
       61 pyphlkttma tipdwklqll arrrqeeasv rgrekaerer lsqmpawkrg llerrraklg
      121 lspgepspvl gtveagppdp desavlleai gpvhqnrfir qerqqqqqqq qrseellaer
      181 kpgplearer rpspgemrdq spkgresree rlspretrer rlgiggaqel slrpleardw
      241 rqspgevgdr ssrlseawkw rlspgetper slrlaesreq sprrkevesr lspgesayqk
      301 lglteahkwr pdsresqeqs lvqleatewr lrsgeerqdy seecgrkeew pvpgvapket
      361 aelsetltre aqgnssagve aaeqrpvedg ergmkptegw kwtlnsgkar ewtprdieaq
      421 tqkpeppesa ekllespgve agegeaekee agaqgrplra lqnccsvpsp lppedagtgg
      481 lrqqeeeave lqppppapls ppppaptapq ppgdplmsrl fygvkagpgv gaprrsghtf
      541 tvnprrsvpp atpatptspa tvdaavpgag kkryptaeei lvlggylrls rsclakgspe
      601 rhhkqlkisf setalettyq ypsessvlee lgpepevpsa pnppaaqpdd eedeeellll
      661 qpelqgglrt kalivdescr r
//
LOCUS       XP_054184803            1304 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 10 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054184803
VERSION     XP_054184803.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328828.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187576.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1304
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.3-23.2"
     Protein         1..1304
                     /product="rho guanine nucleotide exchange factor 10
                     isoform X6"
                     /calculated_mol_wt=144567
     CDS             1..1304
                     /gene="ARHGEF10"
                     /gene_synonym="GEF10; SNCV"
                     /coded_by="XM_054328828.1:48..3962"
                     /db_xref="GeneID:9639"
                     /db_xref="HGNC:HGNC:14103"
                     /db_xref="MIM:608136"
ORIGIN      
        1 mdqreplppa paenemkydt nnneeeegeq fdfdsgdeip eadrqapsap etggagasea
       61 paptggedga gaettpvaep tklvlpmkvn pysviditpf qedqpptpvp saeeenvglh
      121 vpcgylvpvp cgyavpsnlp lllpaysspv iicatsldee aetpevtedr qpnslsseep
      181 ptsedqvgre dsalarwaad pantawmenp eeaiyddvpr ensdsepdem iyddvengde
      241 ggnssleygw sssefesyee qsdseckngi prsflrsnhk kqlshdltrl kehyekkmrd
      301 lmastvgvve iqqlrqkhel kmqklvkaak dgtkdglert raavkrgrsf irtksliaqd
      361 hrssleeeqn lfidvdckhp eailtpmpeg lsqqqvvrry ilgsvvdsek nyvdalkril
      421 eqyekplsem epkvlserkl ktvfyrvkei lqchslfqia lasrvsewds vemigdvfva
      481 sfsksmvlda yseyvnnfst avavlkktca tkpafleflk qeqeaspdrt tlyslmmkpi
      541 qrfpqfilll qdmlkntskg hpdrlplqma lteletlaek lnerkrdadq rcevkqiaka
      601 inerylnkll ssgsrylirs ddmietvynd rgeivktker rvfmlndvlm catvssrpsh
      661 dsrvmssqry llkwsvplgh vdaieygssa gtgehsrhla vhppeslavv anakpnkvym
      721 gpgqlyqdlq nllhdlnvig qitqlignlk gnyqnlnqsv ahdwtsglqr lilkkedeir
      781 aadccriqlq lpgkqdksgr ptfftavfnt ftpaikeswv nslqmaklal eeenhmgwfc
      841 veddgnhikk ekhpllvghm pvmvakqqef kiecaaynpe pylnnesqpd sfstahgflw
      901 igscthqmgq iaivsfqnst pkviecfnve srilcmlyvp veekrrepga ppdpetpavr
      961 asdvpticvg teegsisiyk ssqgskkvrl qhfftpekst vmslactsqs lyaglvngav
     1021 asyarapdgs wdsepqkvik lgvlpvrsll mmedtlwaas ggqvfiisve thavegqlea
     1081 hqeegmvish mavsgvgiwi aftsgstlrl fhtetlkhlq diniatpvhn mlpgrgmvsy
     1141 hahnspvkfi vlatalhekd kdksrdslap gpepqdedqk dalpsggags slsqgdpdaa
     1201 iwlgdslgsm tqksdlssss gslslshgss slehrsedst iydllkdpvs lrskarrakk
     1261 akassalvvc ggqghrrvhr karqphqeel aptvmvwqip llni
//
LOCUS       XP_054185838             539 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 26 isoform X1 [Homo sapiens].
ACCESSION   XP_054185838
VERSION     XP_054185838.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329863.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_113891.3) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..539
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..539
                     /product="tripartite motif-containing protein 26 isoform
                     X1"
                     /calculated_mol_wt=62035
     CDS             1..539
                     /gene="TRIM26"
                     /gene_synonym="AFP; RNF95; ZNF173"
                     /coded_by="XM_054329863.1:367..1986"
                     /db_xref="GeneID:7726"
                     /db_xref="HGNC:HGNC:12962"
                     /db_xref="MIM:600830"
ORIGIN      
        1 matsaplrsl eeevtcsicl dylrdpvtid cghvfcrsct tdvrpisgsr pvcplckkpf
       61 kkenirpvwq laslvenier lkvdkgrqpg evtreqqdak lcerhreklh yyceddgkll
      121 cvmcresreh rphtavlmek aaqphrekil nhlstlrrdr dkiqgfqakg eadilaalkk
      181 lqdqrqyiva efeqghqflr ereehlleql akleqelteg rekfksrgvg elarlalvis
      241 elegkaqqpa aelmqdtrdf lnryprkkfw vgkpiarvvk kktgefsdkl lslqrglref
      301 qgkllrdley ktvsvtldpq sasgylqlse dwkcvtytsl yksaylhpqq fdcepgvlgs
      361 kgftwgkvyw eveveregws edeeegdeee egeeeeeeee agygdgyddw etdedeeslg
      421 deeeeeeeee eevlescmvg vardsvkrkg dlslrpedgv walrlsssgi wantspeael
      481 fpalrprrvg ialdyeggtv tftnaesqel iytftatftr rlvpflwlkw pgtrlllrp
//
LOCUS       XP_047298886             589 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ALEX-like [Homo sapiens].
ACCESSION   XP_047298886
VERSION     XP_047298886.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442930.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_113891.3) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..589
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..589
                     /product="protein ALEX-like"
                     /calculated_mol_wt=65783
     Region          <444..>511
                     /region_name="PRK10263"
                     /note="DNA translocase FtsK; Provisional"
                     /db_xref="CDD:236669"
     CDS             1..589
                     /gene="LOC124905366"
                     /coded_by="XM_047442930.1:141..1910"
                     /db_xref="GeneID:124905366"
ORIGIN      
        1 meakvrpsrr sraqrdrgrr reaardaraq spssgdepep spgkenaglr gapprgaapa
       61 prtarpprrr rresssqeee vidgfaiasf stlealekdm alkpherkek werrlikkpr
      121 esetcppaep senrrpleag spgqdlepac dgarkvplqp skqvcspegg plpashwdqn
      181 gpaqrqqqlq psqssqpqgs lpapsalpdp gqpcqpsqrp llgqrswpqr sllglkqpcq
      241 prrsllgpgq pcrpqrllps pdqlcqpqrs rpaqpcrphw alpgprqccr rlrslltpch
      301 hcrrlrslla prsllvpcly crrlrfllap rhrcrrlrsl ltlwhrcrpl rpwaspchcg
      361 qpgrassgqr srplwsllaq cqryqpprpl ltlrprrrpa sflpgqcccp rraflapcqy
      421 gqprrsllgq psrprrsllr prqpqrlvea peqpgpltps llgpgrprqq kqplmgpeqp
      481 cppkrplmgp eqpcqplrpl mgpnkpckpq pllpipdrps llgqpgppcr pllgllcqpr
      541 rslldlvpar qprlsllalg hpcrplrsrw trscapgmar qapsvspga
//
LOCUS       XP_054186737             183 aa            linear   PRI 20-MAR-2023
DEFINITION  nurim isoform X1 [Homo sapiens].
ACCESSION   XP_054186737
VERSION     XP_054186737.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330762.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167247.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..183
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..183
                     /product="nurim isoform X1"
                     /calculated_mol_wt=20956
     CDS             1..183
                     /gene="NRM"
                     /gene_synonym="NRM29"
                     /coded_by="XM_054330762.1:589..1140"
                     /db_xref="GeneID:11270"
                     /db_xref="HGNC:HGNC:8003"
                     /db_xref="MIM:620017"
ORIGIN      
        1 maaervkawt sryfgvlqrs lyvactalal qlvmrywepi pkgpvlwear aepwatwvpl
       61 lcfvlhvisw llifsillvf dyaelmglkq vyyhvlglge plalkspral rlfshlrhpv
      121 cvelltvlwv vptlgtdrll laflltlylg lahgldqqdl rylraqlqrk lhllsrpqdg
      181 eae
//
LOCUS       XP_054186747            1342 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-2(XI) chain isoform X6 [Homo sapiens].
ACCESSION   XP_054186747
VERSION     XP_054186747.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330772.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167247.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1342
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1342
                     /product="collagen alpha-2(XI) chain isoform X6"
                     /calculated_mol_wt=128280
     CDS             1..1342
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /coded_by="XM_054330772.1:501..4529"
                     /db_xref="GeneID:1302"
                     /db_xref="HGNC:HGNC:2187"
                     /db_xref="MIM:120290"
ORIGIN      
        1 mlvegppgpe gpagligppg iqgnpgpvgd pgergppgra glpgsdgapg ppgtslmlpf
       61 rfgsgggdkg pvvaaqeaqa qailqqarla lrgppgpmgy tgrpgplgqp gspglkgesg
      121 dlgpqgprgp qgltgppgka grrgragadg argmpgdpgv kgdrgfdglp glpgekghrg
      181 dtgaqglpgp pgedgergdd geigprglpg esgprgllgp kgppgipgpp gvrgmdgpqg
      241 pkgslgpqge pgppgqqgtp gtqglpgpqg aigphgekgp qgkpglpgmp gsdgppghpg
      301 kegppgtkgn qgpsgpqgpl gypgprgvkg vdgirglkgh kgekgedgfp gfkgdigvkg
      361 drgevgvpgs rgedgpegpk grtgptgdpg ppglmgekgk lgvpglpgyp grqgpkgslg
      421 fpgfpgasge kgarglsgks gprgergptg prgqrgprga tgksgakgts ggdgphgppg
      481 erglpgpqgp ngfpgpkgpp gppgkdglpg hpgqrgevgf qgktgppgpp gvvgpqgaag
      541 etgpmgergh pgppgppgeq glpgtagkeg tkgdpgppga pgkdgpaglr gfpgerglpg
      601 taggpglkgn egpsgppgpa gspgergaag sggpigppgr pgpqgppgaa gekgvpgekg
      661 pigptgrdgv qgpvglpgpa gppgvagedg dkgevgdpgq kgtkgnkgeh gppgppgpig
      721 pvgqpgaaga dgepgargpq ghfgakgdeg trgfngppgp iglqglpgps gekgetgdvg
      781 pmgppgppgp rgpagpngad gpqgppggvg nlgppgekge pgesgspgiq gepgvkgprg
      841 ergekgesgq pgepgppgpk gptgddgpkg npgpvgfpgd pgppgeggpr gqdgakgdrg
      901 edgepgqpgs pgptgengpp gplgkrgpag spgsegrqgg kgakgdpgai gapgktgpvg
      961 pagpagkpgp dglrglpgsv gqqgrpgatg qagppgpvgp pglpglrgda gakgekghpg
     1021 ligligppge qgekgdrglp gpqgspgqkg emgipgasgp igpggppglp gpagpkgakg
     1081 atgpggpkge kgvqgppghp gppgeviqpl piqmpkktrr svdgsrlmqe deaiptggap
     1141 gspggleeif gsldslreei eqmrrptgtq dspartcqdl klchpelpdg eywvdpnqgc
     1201 ardafrvfcn ftaggetcvt prddvtqfsy vdsegspvgv vqltflrlls vsahqdvsyp
     1261 csgaardgpl rlrganedel spetspyvke frdgcqtqqg rtvlevrtpv leqlpvldas
     1321 fsdlgapprr ggvllgpvcf mg
//
LOCUS       XP_054188795            1945 aa            linear   PRI 20-MAR-2023
DEFINITION  rootletin isoform X4 [Homo sapiens].
ACCESSION   XP_054188795
VERSION     XP_054188795.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332820.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791756) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1945
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     Protein         1..1945
                     /product="rootletin isoform X4"
                     /calculated_mol_wt=220626
     CDS             1..1945
                     /gene="CROCC"
                     /gene_synonym="CROCC1; ROLT; TAX1BP2"
                     /coded_by="XM_054332820.1:196..6033"
                     /db_xref="GeneID:9696"
                     /db_xref="HGNC:HGNC:21299"
                     /db_xref="MIM:615776"
ORIGIN      
        1 masllslqee nqllqqelsr vedllaqsra erdelaikyn avserleqal rlepgeletq
       61 eprglvrqsv elrrqlqeeq asyrrklqay qegqqrqaql vqrlqgkilq ykkrcseleq
      121 qllersgele qqrlrdtehs qdlesalirl eeeqqrsasl aqvnamlreq ldqagsanqa
      181 lsedirkvtn dwtrcrkele hreaawrree esfnayfsne hsrllllwrq vvgfrrlvse
      241 vkmfterdll qlggelarts ravqeaglgl stglrlaesr aeaalekqal lqaqleeqlq
      301 dkvlrekdla qqqmqsdldk adlsarvtel glavkrlekq nlekdqvnkd ltekleales
      361 lrlqeqaale tedgeglqqt lrdlaqavls dsesgvqlsg sertadasng slrglsgqrt
      421 pspprrsspg rgrsprrgps pacsdsstla lihsalhkrq lqvqdmrgry easqdllgtl
      481 rkqlsdsese rraleeqlqr lrdktdgamq ahedaqrevq rlrsanells reksnlahsl
      541 qvaqqqaeel rqereklqaa qeelrrqrdr leeeqedavq dgarvrrele rshrqleqle
      601 gkrsvlakel vevrealsra tlqrdmlqae kaevaealtk aeagrvelel smtklraeea
      661 slqdslskls alneslaqdk ldlnrlvaql eeeksalqgr qrqaeqeatv areeqerlee
      721 lrleqevarq glegslrvae qaqealeqql ptlrhersql qeqlaqlsrq lsgreqeleq
      781 arreaqrqve aleraareke alakehagla vqlvaaereg rtlseeatrl rlekealegs
      841 lfevqrqlaq learreqlea egqalllake tltgelaglr qqiiatqeka sldkelmaqk
      901 lvqaereaqa slreqraahe edlqrlqrek eaawreleae raqlqsqlqr eqeellarle
      961 aekeelseei aalqqerdeg lllaesekqq alslkesekt alseklmgtr hslatislem
     1021 erqkrdaqsr qeqdrstvna ltselrdlra qreeaaaaha qevrrlqeqa rdlgkqrdsc
     1081 lreaeelrtq lrlledardg lrrelleaqr klresqegre vqrqeagelr rslgegaker
     1141 ealrrsneel rsavkkaese rislklaned keqklallee artavgkeag elrtglqeve
     1201 rsrlearrel qelrrqmkml dsentrlgre laelqgrlal geraekesrr etlglrqrll
     1261 kgeaslevmr qelqvaqrkl qeqegefrtr errllgslee argtekqqld harglelkle
     1321 aaraeaaelg lrlsaaegra qgleaelarv evqrraaeaq lgglrsalrr glglgrapsp
     1381 aprpvpgspa rdapaegsge glnspstlec spgsqppspg patspaspdl dpeavrgalr
     1441 eflqelrsaq rerdelrtqt salnrqlaem eaerdsatsr arqlqkavae seearrsvdg
     1501 rlsgvqaela lqeesvrrse rerratldqv atlerslqat eselrasqek iskmkanetk
     1561 legdkrrlke vldasesrtv klelqrrsle gelqrsrlgl sdreaqaqal qdrvdslqrq
     1621 vadsevkagt lqltverlng alakveeseg alrdkvrglt ealaqssasl nstrdknlhl
     1681 qkaltacehd rqvlqerlda arqalseark qssslgeqvq tlrgevadle lqrveaegql
     1741 qqlrevlrqr qegeaaalnt vqklqderrl lqerlgslqr alaqleaekr eversalrle
     1801 kdrvalrrtl dkvereklrs hedtvrlsae kgrldrtltg aelelaeaqr qiqqleaqvv
     1861 vleqshspaq levdaqqqql elqqeverlr saqaqtertl earerahrqr vrgleeqvst
     1921 lkgqlqqelr rssapfspps gppek
//
LOCUS       XP_054187529            1046 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF15 isoform X9 [Homo sapiens].
ACCESSION   XP_054187529
VERSION     XP_054187529.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331554.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_009646197.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1046
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..1046
                     /product="kinesin-like protein KIF15 isoform X9"
                     /calculated_mol_wt=122978
     CDS             1..1046
                     /gene="KIF15"
                     /gene_synonym="BRDCS2; HKLP2; KLP2; KNSL7; NY-BR-62"
                     /coded_by="XM_054331554.1:580..3720"
                     /db_xref="GeneID:56992"
                     /db_xref="HGNC:HGNC:17273"
                     /db_xref="MIM:617569"
ORIGIN      
        1 mavvnedtqg nvsqlqaevk rlkeqlaela sgqtppesfl trdkkktnym eyfqeamlff
       61 kkseqekksl iekvtqledl tlkkekfiqs nkmivkfred qiirleklhk esrggflpee
      121 qdrllselrn eiqtlreqie hhprvakyam enhslreenr rlrllepvkr aqemdaqtia
      181 klekafseis gmeksdknqq gfspkaqkep clfanteklk aqllqiqtel nnskqeyeef
      241 keltrkrqle leselqslqk anlnlenlle atkackrqev sqlnkihaet lklknvmwiy
      301 ndlfnlenag ffpiqiittp tkayqlhsrp vpklspemgs fgslytqnss ildndilnep
      361 vppemneqaf eaiseelrtv qeqmsalqak ldeeehknlk lqqhvdkleh hstqmqelfs
      421 seridwtkqq eellsqlnvl ekqlqetqtk ndflksevhd lrvvlhsadk elssvkleys
      481 sfktnqekef nklserhmhv qlqldnlrle neklleskac lqdsydnlqe imkfeidqls
      541 rnlqnfkken etlksdlnnl melleaeker nnklslqfee dkensskeil kvleavrqek
      601 qketakceqq makvqklees llatekviss leksrdsdkk vvadlmnqiq elrtsvcekt
      661 etidtlkqel kdinckynsa lvdreesrvl ikkqevdild lketlrlril sedierdmlc
      721 edlahateql nmlteaskkh sgllqsaqee ltkkealiqe lqhklnqkke eveqkkneyn
      781 fkmrqlehvm dsaaedpqsp ktpphfqthl aklletqeqe iedgraskts lehlvtklne
      841 drevknaeil rmkeqlreme nlrlesqqli eknwllqgql ddikrqkens dqnhpdnqql
      901 kneqeesike rlakskivee mlkmkadlee vqsalynkem eclrmtdeve rtqtleskaf
      961 qekeqlrskl eemyeerert sqememlrkq veclaeengk lvghqnlhqk iqyvvrlkke
     1021 nvrlaeetek lraenvflke kkrses
//
LOCUS       XP_054188035            1022 aa            linear   PRI 20-MAR-2023
DEFINITION  inactive phospholipase C-like protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054188035
VERSION     XP_054188035.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332060.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_017363813.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1022
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.3"
     Protein         1..1022
                     /product="inactive phospholipase C-like protein 2 isoform
                     X2"
                     /calculated_mol_wt=115914
     CDS             1..1022
                     /gene="PLCL2"
                     /gene_synonym="PLCE2"
                     /coded_by="XM_054332060.1:724..3792"
                     /db_xref="GeneID:23228"
                     /db_xref="HGNC:HGNC:9064"
                     /db_xref="MIM:614276"
ORIGIN      
        1 mtdmdgtkqk rerkktvsfs smptekkiss asdcinsmve gselkkvrsn sriyhryfll
       61 dadmqslrwe pskkdsekak idiksikevr tgkntdifrs ngisdqised cafsviygen
      121 yesldlvans advaniwvtg lrylisygkh tldmlessqd nmrtswvsqm fseidvdnlg
      181 hitlcnavqc irnlnpglkt skielkfkel hkskdkagte vtkeefievf helctrpeiy
      241 fllvqfssnk efldtkdlmm fleaeqgvah ineeisleii hkyepskegq ekgwlsidgf
      301 tnylmspdcy ifdpehkkvc qdmkqplshy finsshntyl iedqfrgpsd itgyiralkm
      361 gcrsveldvw dgpdnepviy tghtmtsqiv frsvidiink yaffaseypl ilclenhcsi
      421 kqqkvmvqhm kkllgdklyt tspnveesyl pspdvlkgki likakklssn csgvegdvtd
      481 edegaemsqr mgkenmeqpn nvpvkrfqlc kelselvsic ksvqfkefqv sfqvqkywev
      541 csfnevlask yanenpgdfv nynkrflarv fpspmridss nmnpqdfwkc gcqivamnfq
      601 tpglmmdlni gwfrqngncg yvlrpaimre evsffsantk dsvpgvspql lhikiisgqn
      661 fpkpkgsgak gdvvdpyvyv eihgipadca eqrtktvhqn gdapifdesf efqinlpela
      721 mvrfvvlddd yigdefigqy tipfeclqtg yrhvplqslt gevlahaslf vhvaitnrrg
      781 ggkphkrgls vrkgkksrey aslrtlwikt vdevfknaqp pirdatdlre nmqnavvsfk
      841 elcglssvan lmqcmlavsp rflgpdntpl vvlnlseqyp tmelqgivpe vlkkivttyd
      901 mmiqslkali enadavyeki vhcqkaamef hehlhsigtk eglkerklqk avesftwnit
      961 ilkgqadllk yaknetlenl kqihfaavsc glnkpgtena dvqkprrsle vipekandet
     1021 ge
//
LOCUS       XP_047299169              57 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM104B-like [Homo sapiens].
ACCESSION   XP_047299169
VERSION     XP_047299169.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443213.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_021160013.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..57
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14p11.2"
     Protein         1..57
                     /product="protein FAM104B-like"
                     /calculated_mol_wt=6525
     Region          21..>53
                     /region_name="FAM104"
                     /note="Family 104; pfam15434"
                     /db_xref="CDD:434715"
     CDS             1..57
                     /gene="LOC124905466"
                     /coded_by="XM_047443213.1:3714..3887"
                     /db_xref="GeneID:124905466"
ORIGIN      
        1 mtrylkgyss egrtmggcpv rkrrrngske gnhhstqpkr nkrnpifqds qdtvfme
//
LOCUS       XP_054188000            1013 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and BTB domain-containing protein 4 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054188000
VERSION     XP_054188000.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332025.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_016107299.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1013
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     Protein         1..1013
                     /product="zinc finger and BTB domain-containing protein 4
                     isoform X1"
                     /calculated_mol_wt=104983
     CDS             1..1013
                     /gene="ZBTB4"
                     /gene_synonym="KAISO-L1; ZNF903"
                     /coded_by="XM_054332025.1:2627..5668"
                     /db_xref="GeneID:57659"
                     /db_xref="HGNC:HGNC:23847"
                     /db_xref="MIM:612308"
ORIGIN      
        1 mpppaevtdp shapavlrql neqrlrglfc dvtliagdtk fpahrsvlaa sspffreall
       61 tsaplplppa tggaapnpat ttaassssss ssssssssss asssssssss spppasppas
      121 spprvlelpg vpaaafsdvl nfiysarlal pggggdgaav aeigalgrrl gisrlqglge
      181 ggdawvpptp apmatsqpee dsfgpgprpa gewegdraea qapdlqcslp rrplpcpqcg
      241 ksfihpkrlq theaqcrrga strgstglga ggagpggpag vdasalpppv gfrggpehvv
      301 kvvgghvlyv caacersyvt lsslkrhsnv hswrrkypcr ycekvfalae yrtkhevwht
      361 gerryqcifc wetfvtyynl kthqrafhgi spgllasekt pnggykpkln tlklyrllpm
      421 raakrpykty sqgapeapls ptlntpapva mpaspppgpp papepgppps vitfahpaps
      481 vivhggsssg gggsgtastg gsqaasvity tapprppkkr eypppppepa atptspatav
      541 spataagpam attteeakgr npragrtlty takpvggigg gggpptgagr gpsqlqappp
      601 lcqitvrige eaivkrrise tdlrpgelsg eemeeseede eeedeeeeee deeeskagge
      661 dqlwrpyysy kpkrkagaag gasvggsglp rgrrpprwrq klerrsweet paaespagra
      721 rterrhrcgd caqtfttlrk lrkhqeahgg gshssragrr pstrftcphc akvcktaaal
      781 srhgqrhaae rpggtptpvi ayskgsagtr pgdvkeeapq emqvssssge agggstaaee
      841 asetaslqdp iisggeeppv vasggsyvyp pvqefplali gggrepgggr gksgsegpvg
      901 agegdrmegi gaakvtfype pyplvygpql laaypynfsn laalpvalnm vlpdekgaga
      961 lpflpgvfgy avnpqaappa pptpppptlp ppippkgege ragvertqkg dvg
//
LOCUS       XP_054187874             598 aa            linear   PRI 20-MAR-2023
DEFINITION  CBP80/20-dependent translation initiation factor isoform X4 [Homo
            sapiens].
ACCESSION   XP_054187874
VERSION     XP_054187874.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331899.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_013171814.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..598
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     Protein         1..598
                     /product="CBP80/20-dependent translation initiation factor
                     isoform X4"
                     /calculated_mol_wt=67456
     CDS             1..598
                     /gene="CTIF"
                     /gene_synonym="Gm672; KIAA0427"
                     /coded_by="XM_054331899.1:482..2278"
                     /db_xref="GeneID:9811"
                     /db_xref="HGNC:HGNC:23925"
                     /db_xref="MIM:613178"
ORIGIN      
        1 menssaasas seagssrsqe ieelerfids yvleyqvqgl ladktegdge sertqshisq
       61 wtadcsepld sscsfsrgra ppqqngskdn sldmlgtdiw aantfdsfsg atwdlqpekl
      121 dftqfhrkvr htpkqplphi dregcgkgkl edgdginlnd iekvlpawqg yhpmphevei
      181 ahtkklfrrr rndrrrqqrp pggnkpqqhg dhqpgsakhn rdhqksyqgg saphpsgrpt
      241 hhgysqnrrw hhgnmkhppg dkgeagahrn aketmtienp kledtagdtg hssleaprsp
      301 dtlapvaser lppqqsggpe vetkrkdsil perigerpki tllqsskdrl rrrlkekdev
      361 avetttpqqn kmdklieiln smrnnssdvd tklttfmeea qnstnseeml geivrtiyqk
      421 avsdrsfaft aaklcdkmal fmvegtkfrs lllnmlqkdf tvreelqqqd verwlgfitf
      481 lcevfgtmrs stgepfrvlv cpiytclrel lqsqdvkeda vlccsmelqs tgrlleeqlp
      541 emmtellasa rdkmlcpses mltrslllev ielhanswnp ltppitqyyn rtiqklta
//
LOCUS       XP_054190129             354 aa            linear   PRI 20-MAR-2023
DEFINITION  Fc receptor-like protein 1 isoform X9 [Homo sapiens].
ACCESSION   XP_054190129
VERSION     XP_054190129.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334154.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..354
                     /product="Fc receptor-like protein 1 isoform X9"
                     /calculated_mol_wt=38615
     CDS             1..354
                     /gene="FCRL1"
                     /gene_synonym="CD307a; FCRH1; IFGP1; IRTA5"
                     /coded_by="XM_054334154.1:194..1258"
                     /db_xref="GeneID:115350"
                     /db_xref="HGNC:HGNC:18509"
                     /db_xref="MIM:606508"
ORIGIN      
        1 mwkedtgsyw ceaqtmaskv lrsrrsqinv hrvpvadvsl etqppggqvm egdrlvlics
       61 vamgtgditf lwykgavgln lqsktqrslt aeyeipsvre sdaeqyycva engygpspsg
      121 lvsitvripv srpilmlrap raqaavedvl elhcealrgs ppilywfyhe ditlgsrsap
      181 sgggasfnls lteehsgnys ceannglgaq rseavtlnft vptgarsnhl tsgvieglls
      241 tlgpatvall fcyglkrkig rrsardplrs lpsplpqeft ylnsptpgql qpiyenvnvv
      301 sgdevyslay ynqpeqesva aetlgthmed kvsldiysrl rkanitdvdy ddam
//
LOCUS       XP_054191383             615 aa            linear   PRI 20-MAR-2023
DEFINITION  kazrin isoform X7 [Homo sapiens].
ACCESSION   XP_054191383
VERSION     XP_054191383.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335408.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..615
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..615
                     /product="kazrin isoform X7"
                     /calculated_mol_wt=68203
     CDS             1..615
                     /gene="KAZN"
                     /gene_synonym="C1orf196; KAZ"
                     /coded_by="XM_054335408.1:805..2652"
                     /db_xref="GeneID:23254"
                     /db_xref="HGNC:HGNC:29173"
                     /db_xref="MIM:618301"
ORIGIN      
        1 mtntkdpkra mestlatsns atgpvtfshv fgqqcqlmqa avqslhtlnd qishfivtks
       61 kaleedkdpf lpteketlks smilmrhllm daqakilsmm ednkqlalri dgavqsasqe
      121 vtnlraelta tnrrlaelsg gggpgpgpga aasasaagds aatnmenpql gaqvllreev
      181 srlqeevhll rqmkemlakd leesqggkss evlsatelrv qlaqkeqela rakealqamk
      241 adrkrlkgek tdlvsqmqql yatlesreeq lrdfirnyeq hrkesedavk alakekdlle
      301 rekwelrrqa keatdhatal rsqldlkdnr mkeleaelam akqslatltk dvpkrhslam
      361 pgetvlngnq ewvvqadlpl taairqsqqt lyhshpphpa drqavrvspc hsrqpsvisd
      421 asaaegdrss tpsdinsprh rthslcngds pgpvqknlhn pivqsledle dqkrkkkkek
      481 mgfgsisrvf argkqrksld pglfddsdsq csptrqslsl segeeqmdrl qqvelvrttp
      541 mshwkagtvq awlevvmamp myvkactenv ksgkvllsls dedlqlglgv csslhrrklr
      601 laiedyrdae agrrs
//
LOCUS       XP_054222390            1464 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 21 isoform X5 [Homo sapiens].
ACCESSION   XP_054222390
VERSION     XP_054222390.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366415.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1464
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1464
                     /product="rho GTPase-activating protein 21 isoform X5"
                     /calculated_mol_wt=163589
     CDS             1..1464
                     /gene="ARHGAP21"
                     /gene_synonym="ARHGAP10"
                     /coded_by="XM_054366415.1:707..5101"
                     /db_xref="GeneID:57584"
                     /db_xref="HGNC:HGNC:23725"
                     /db_xref="MIM:609870"
ORIGIN      
        1 mmatrrtgls egdgdklkac evsknkdgke qsetvslsed etfswpgpkt vtlkrtsqgf
       61 gftlrhfivy ppesaiqfsy kdeengnrgg kqrnrlepmd tifvkqvkeg gpafeaglct
      121 gdriikvnge svigktysqv ialiqnsdtt lelsvmpkde dilqvlqftk dvtalaysqd
      181 aylkgneays gnarnipepp picypwlpsa psamaqpvei sppdsslskq qtstpvltqp
      241 grayrmeiqv ppsptdvaks ntavcvcnes vrtvivpsek vvdllsnrnn htgpshrtee
      301 vrygvseqts lktvsrttsp plsiptthli hqpagsrsle psgillksgn ysghsdgiss
      361 srsqaveaps vsvnhyspns hqhidwknyk tykeyidnrr lhigcwtiqe rldslraasq
      421 sttdynqvvp nrttlqgrrr stshdrvpqs vqirqrsvsq erledsvlmk ycprsasqga
      481 ltspsvsfsn hrtrswdyie gqdetlenvn sgtpipdsng ekkqtykwsg fteqddrrgi
      541 cerprqqeih ksfrgsnftv apsvvnsdnr rmsgrgvgsv sqfkkippdl ktlqsnrnfq
      601 ttcgmslprg isqdrsplvk vrsnslkaps thvtkpsfsq ksfvsikdqr pvnhlhqnsl
      661 lnqqtwvrtd sapdqqvetg kspslsgasa kpapqssena gtsdlelpvs qrsqdlslqe
      721 aeteqsdtld nkeavilrek ppsgrqtpqp lrhqsyilav ndqetrsdtt cwlpndarre
      781 vhikrmeerk asstsppgds lasipfivkg iyykecnnte mskpnvslfs hafsiqssfr
      841 tdeptspsid hdiahipasa visastsqvp siatvppclt tsaplirrql shdhesvgpp
      901 sldaqpnskt ersksydegl ddyredakls fkhvsslkgi kiadsqksse dsgsrkdsss
      961 evfsdaakeg wlhfrplvtd kgkrvggsir pwkqmyvvlr ghslylykdk reqttpseee
     1021 qpisvnacli disysetkrk nvfrlttsdc eclfqaedrd dmlawiktiq essnlneedt
     1081 gvtnrdlisr rikeynnlms kaeqlpktpr qslsirqtll gaksepktqs phspkeeser
     1141 kllskddtsp pkdkgtwrkg ipsimrktfe kkptatgtfg vrlddcppah tnryiplivd
     1201 iccklveerg leytgiyrvp gnnaaissmq eelnkgmadi diqddkwrdl nvissllksf
     1261 frklpeplft ndkyadfiea nrkedpldrl ktlkrlihdl pehhyetlkf lsahlktvae
     1321 nseknkmepr nlaivfgptl vrtsednmth mvthmpdqyk ivetliqhhd wffteegaee
     1381 plttvqeest vdsqpvpnid hlltnigrtg vspgdvsgev ggvyhtvmsl vdsvmslmds
     1441 wncrkkedcc phcsclvcrn prfl
//
LOCUS       XP_054224424             311 aa            linear   PRI 20-MAR-2023
DEFINITION  post-GPI attachment to proteins factor 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054224424
VERSION     XP_054224424.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368449.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..311
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..311
                     /product="post-GPI attachment to proteins factor 2 isoform
                     X2"
                     /calculated_mol_wt=35842
     CDS             1..311
                     /gene="PGAP2"
                     /gene_synonym="CWH43-N; FRAG1; HPMRS3; MRT17; MRT21"
                     /coded_by="XM_054368449.1:103..1038"
                     /db_xref="GeneID:27315"
                     /db_xref="HGNC:HGNC:17893"
                     /db_xref="MIM:615187"
ORIGIN      
        1 myqvplpldr dgtlvrlrft mvalvtvccp lvaflfcilw sllfhfkett athcgatpcr
       61 mfsaasqpld pdgtlfrlrf tamvwwaitf pvfgfffcii wslvfhfeyt vatdcgvpny
      121 lpsvssaigg evpqryvwrf ciglhsaprf lvafaywnhy lsctspcscy rplcrlnfgl
      181 nvvenlallv ltyvsssedf tihenafivf iasslghmll tcilwrltkk htdrksyswk
      241 qrlfiinfis ffsalavyfr hnmyceagvy tifaileytv vltnmafhmt awwdfgnkel
      301 litsqpeekr f
//
LOCUS       XP_054225855             637 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 143 isoform X6 [Homo sapiens].
ACCESSION   XP_054225855
VERSION     XP_054225855.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369880.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..637
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..637
                     /product="zinc finger protein 143 isoform X6"
                     /calculated_mol_wt=68762
     CDS             1..637
                     /gene="ZNF143"
                     /gene_synonym="pHZ-1; SBF; STAF"
                     /coded_by="XM_054369880.1:839..2752"
                     /db_xref="GeneID:7702"
                     /db_xref="HGNC:HGNC:12928"
                     /db_xref="MIM:603433"
ORIGIN      
        1 mllaqinrds qgmtefpggg meaqhvtlcl teavtvadgd nlenmegvsl qavtladgst
       61 ayiqhnskda klidgqviql edgsaayvqh vpipksrdsl rledgqavql edgttafihh
      121 tskdsydqsa lqavqledgt tayihhavqv pqsdtilaiq adgtvaglht gdatidpdti
      181 saleqyaakv sidgsesvag tgmigeneqe kkmqivlqgh atrvtaksqq sgekafrcey
      241 dgcgklytta hhlkvhersh tgdrpyqceh agcgkafatg yglkshvrth tgekpyrcse
      301 dnctksfkts gdlqkhirth tgerpfkcpf egcgrsftts nirkvhvrth tgerpyycte
      361 pgcgrafasa tnyknhvrih tgekpyvctv pgcdkrftey sslykhhvvh thskpyncnh
      421 cgktykqist lamhkrtahn dtepieeeqe affepppgqg edvlkgsqit yvtgvegddv
      481 vstqvatvtq sglsqqvtli sqdgtqhvni sqadmqaign titmvtqdgt pitvpahdav
      541 issagthsva mvtaegtegq qvaivaqdla afhtassemg hqqhshhlvt tetrpltlva
      601 tsngtqiavq lgeqpsleea iriasriqqg etpgldd
//
LOCUS       XP_054226295             271 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 5 isoform X9 [Homo sapiens].
ACCESSION   XP_054226295
VERSION     XP_054226295.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370320.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..271
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..271
                     /product="tripartite motif-containing protein 5 isoform
                     X9"
                     /calculated_mol_wt=31148
     CDS             1..271
                     /gene="TRIM5"
                     /gene_synonym="RNF88; TRIM5alpha"
                     /coded_by="XM_054370320.1:269..1084"
                     /db_xref="GeneID:85363"
                     /db_xref="HGNC:HGNC:16276"
                     /db_xref="MIM:608487"
ORIGIN      
        1 masgilvnvk eevtcpicle lltqplsldc ghsfcqaclt anykksmldk gesscpvcri
       61 syqpenirpn rhvanivekl revklspegq kvdhcarhge klllfcqedg kvicwlcers
      121 qehrghhtfl teevareyqv klqaalemlr qkqqeaeele adireekasw ktqiqydktn
      181 vladfeqlrd ildweesnel qnlekeeedi lksltnsete mvqqtqslre lisdlehrlq
      241 gsvmellqdg erdleearnf skkskesvss s
//
LOCUS       XP_054226365            2416 aa            linear   PRI 20-MAR-2023
DEFINITION  neuron navigator 2 isoform X20 [Homo sapiens].
ACCESSION   XP_054226365
VERSION     XP_054226365.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370390.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2416
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2416
                     /product="neuron navigator 2 isoform X20"
                     /calculated_mol_wt=260811
     CDS             1..2416
                     /gene="NAV2"
                     /gene_synonym="HELAD1; POMFIL2; RAINB1; STEERIN2; UNC53H2"
                     /coded_by="XM_054370390.1:358..7608"
                     /db_xref="GeneID:89797"
                     /db_xref="HGNC:HGNC:15997"
                     /db_xref="MIM:607026"
ORIGIN      
        1 msvmlwrweq nnttmkliyt dwanhylaks ghkrlikdlq qdvtdgvlla qiiqvvanek
       61 iedingcpkn rsqmienida clnflaakgi niqglsaeei rngnlkailg lffslsrykq
      121 qqqqpqkqhl ssplppavsq vagapsqcqa gtpqqqvpvt pqapcqphqp aphqqskaqa
      181 emqssasskd ssqskiirft lgqkkisrlp gptarvsaag seaktrggst tannrrsqsf
      241 nnydkskpvt spppppsshe keplassass hpgmsdnapa slesgssstp tncstssaip
      301 qpgaatkpwr skslsvkhsa tvsmlsvkpp gpeaprptpe amkpapnnqk smleklklfn
      361 skggskageg pgsrdtscer letlpsfees eeleaasrml ttvgpasssp kialkgiaqr
      421 tfsraltnkk sslkgnekek ekqqrekdke kskdlakras vterldlkee pkedpsgaav
      481 pempkksski asfipkggkl nsakkepmap shsgipkpgm ksmpgkspsa papskegers
      541 rsgklssglp qqkpqldgrh sssssslass egkgpggttl nhsissqtvs gsvgttqttg
      601 sntvsvqlpq pqqqynhpnt atvapflyrs qtdtegnvta essstgvsve pshftktgqp
      661 aleeltgedp earrlrtvkn iadlrqnlee tmsslrgtqv thstlettfd tnvttemsgr
      721 silsltgrpt plswrlgqss prlqagdaps mgngyppran asrfintesg ryvysaplrr
      781 qlasrgssvc hvdvsdkagd emdlegismd apgymsdgdv lsknirtddi tsgymtdggl
      841 glytrrlnrl pdgmavvret lqrntslglg dadswddsss vssgisdtid nlstddints
      901 ssissyantp assrknldvq tdaekhsqve rnslwsgddv kksdggsdsg ikmepgskwr
      961 rnpsdvsdes dkstsgkknp visqtgswrr gmtaqvgitm prtkasapag alktpgtgkt
     1021 ddakvsekgr lspkasqvkr spsdagrssg deskkplpss srtptanans fgfkkqsgsa
     1081 aglamitasg vtvtsrsatl gkipkssalv srsagrkssm dgaqnqddgy lalssrtnlq
     1141 yrslprpsks nsrngagnrs stssidsnis sksaglpvpk lrepsktalg sslpglvnqt
     1201 dkekgissdn esvascnsvk vnpaaqpvss paqtslqpga kypdvasptl rrlfggkptk
     1261 qvpiataenm knsvvisnph atmtqqgnld spsgsgvlss gsssplyskn vdlnqsplas
     1321 spssahsaps nsltwgtnas sssavskdgl gfqsvsslht scesidisls sggvpshnss
     1381 tgliasskdd sltpfvrtns vkttlsespl sspaaspkfc rstlprkqds dphldrntlp
     1441 kkglrytpts qlrtqedake wlrshsaggl qdtaanspfs sgssvtspsg trfnfsqlas
     1501 pttvtqmsls nptmlrthsl snadgqydpy tdsrfrnssm sldeksrtms rsgsfrdgfe
     1561 eeswekssvd nfvsrlhssl hfslplfhha ryelvhgssl slvsstssvy stpeekcqse
     1621 irklrrelda sqekvsaltt qltanahlva afeqslgnmt irlqsltmta eqkdselnel
     1681 rktiellkkq naaaqaaing vintpelnck gngtaqsadl rirrqhssds vssinsatsh
     1741 ssvgsniesd skkkkrknwv nelrssfkqa fgkkkspksa sshsdieemt dsslpsspkl
     1801 phngstgstp llrnshsnsl isecmdseae tvmqlrnelr dkemkltdir lealssahql
     1861 dqlreamnrm qseieklkae ndrlksesqg sgcsrapsqv sisasprqsm glsqhslnlt
     1921 estsldmlld dtgecsarke ggrhvkivvs fqeemkwked srphlfligc igvsgktkwd
     1981 vldgvvrrlf keyiihvdpv sqlglnsdsv lgysigeikr sntsetpell pcgylvgent
     2041 tisvtvkgla ensldslvfe slipkpilqr yvslliehrr iilsgpsgtg ktylanrlse
     2101 yivlregrel tdgviatfnv dhksskelrq ylsnladqcn sennavdmpl viildnlhhv
     2161 sslgeifngl lnckyhkcpy iigtmnqats stpnlqlhhn frwvlcanht epvkgflgrf
     2221 lrrklmetei sgrvrnmelv kiidwipkvw hhlnrfleah sssdvtigpr lflscpidvd
     2281 gsrvwftdlw nysiipylle aireglqlyg rrapwedpak wvmdtypwaa spqqhewppl
     2341 lqlrpedvgf dgysmpregs tskqmppsda egdplmnmlm rlqeaanyss pqsydsdsns
     2401 nshhddilds slestl
//
LOCUS       XP_054232129             413 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform
            X2 [Homo sapiens].
ACCESSION   XP_054232129
VERSION     XP_054232129.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376154.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..413
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..413
                     /product="ubiquinone biosynthesis monooxygenase COQ6,
                     mitochondrial isoform X2"
                     /calculated_mol_wt=45598
     CDS             1..413
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /coded_by="XM_054376154.1:138..1379"
                     /db_xref="GeneID:51004"
                     /db_xref="HGNC:HGNC:20233"
                     /db_xref="MIM:614647"
ORIGIN      
        1 mtwwcrveaw walpwpvpwd miftfmtrks ccskqvqrky wrncqkltat gsapfplalq
       61 rfsvvwdacs ealimfdkdn lddmgyiven dvimhaltkq leavsdrvtv lyrskairyt
      121 wpcpfpmads spwvhitlgd gstfqtklli gadghnsgvr qavgiqnvsw nydqsavvat
      181 lhlseatenn vawqrflpsg piallplsdt lsslvwstsh ehaaelvsmd eekfvdavns
      241 afwsdadhtd fidtagamlq yavsllkptk vsarqlppsv arvdaksrvl fplglghaae
      301 yvrprvalig daahrvhpla gqgvnmgfgd isslahhlst aafngkdlgs vshltgyete
      361 rqrhntalla atdllkrlys tsasplvllr twglqatnav splkeqimaf ask
//
LOCUS       XP_054234642             487 aa            linear   PRI 20-MAR-2023
DEFINITION  kunitz-type protease inhibitor 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054234642
VERSION     XP_054234642.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378667.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..487
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..487
                     /product="kunitz-type protease inhibitor 1 isoform X2"
                     /calculated_mol_wt=53772
     CDS             1..487
                     /gene="SPINT1"
                     /gene_synonym="HAI; HAI1; MANSC2"
                     /coded_by="XM_054378667.1:297..1760"
                     /db_xref="GeneID:6692"
                     /db_xref="HGNC:HGNC:11246"
                     /db_xref="MIM:605123"
ORIGIN      
        1 mapartmara rlapagipav alwllctlgl qgtqagpppa ppglpagadc lnsftagvpg
       61 fvldtnasvs ngatflespt vrrgwdcvra ccttqncnla lvelqpdrge daiaacflin
      121 clyeqnfvck fapregfiny ltrevyrsyr qlrtqgfggs gipkawagid lkvqpqeplv
      181 lkdventdwr llrgdtdvrv erkdpnqvel wglkegtylf qltvtssdhp edtanvtvtv
      241 lstkqtedyc lasnkvgrcr gsfprwyydp teqicksfvy ggclgnknny lreeecilac
      301 rgvqggplrg ssgaqatfpq gpsmerrhpd tsgfdelqri hfpsdkghcv dlpdtglcke
      361 siprwyynpf sehcarftyg gcygnknnfe eeqqclescr giskkdvfgl rreipipstg
      421 svemavavfl vicivvvvai lgycffknqr kdfhghhhhp pptpasstvs ttedtehlvy
      481 nhttrpl
//
LOCUS       XP_054169447             544 aa            linear   PRI 20-MAR-2023
DEFINITION  protein kinase C beta type isoform X1 [Homo sapiens].
ACCESSION   XP_054169447
VERSION     XP_054169447.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313472.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..544
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..544
                     /product="protein kinase C beta type isoform X1"
                     /calculated_mol_wt=62434
     CDS             1..544
                     /gene="PRKCB"
                     /gene_synonym="PKC-beta; PKCB; PKCbeta; PKCI(2); PRKCB1;
                     PRKCB2"
                     /coded_by="XM_054313472.1:545..2179"
                     /db_xref="GeneID:5579"
                     /db_xref="HGNC:HGNC:9395"
                     /db_xref="MIM:176970"
ORIGIN      
        1 mkcdtcmmnv hkrcvmnvps lcgtdhterr griyiqahid rdvlivlvrd aknlvpmdpn
       61 glsdpyvklk lipdpksesk qktktikcsl npewnetfrf qlkesdkdrr lsveiwdwdl
      121 tsrndfmgsl sfgiselqka svdgwfklls qeegeyfnvp vppegseane elrqkferak
      181 isqgtkvpee kttntvskfd nngnrdrmkl tdfnflmvlg kgsfgkvmls erkgtdelya
      241 vkilkkdvvi qdddvectmv ekrvlalpgk ppfltqlhsc fqtmdrlyfv meyvnggdlm
      301 yhiqqvgrfk ephavfyaae iaiglfflqs kgiiyrdlkl dnvmldsegh ikiadfgmck
      361 eniwdgvttk tfcgtpdyia peiiayqpyg ksvdwwafgv llyemlagqa pfegededel
      421 fqsimehnva ypksmskeav aickglmtkh pgkrlgcgpe gerdikehaf fryidwekle
      481 rkeiqppykp kacgrnaenf drfftrhppv ltppdqevir nidqsefegf sfvnseflkp
      541 evks
//
LOCUS       XP_054169897            1228 aa            linear   PRI 20-MAR-2023
DEFINITION  rho family-interacting cell polarization regulator 1 isoform X14
            [Homo sapiens].
ACCESSION   XP_054169897
VERSION     XP_054169897.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313922.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1228
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1228
                     /product="rho family-interacting cell polarization
                     regulator 1 isoform X14"
                     /calculated_mol_wt=132708
     CDS             1..1228
                     /gene="RIPOR1"
                     /gene_synonym="FAM65A"
                     /coded_by="XM_054313922.1:110..3796"
                     /db_xref="GeneID:79567"
                     /db_xref="HGNC:HGNC:25836"
                     /db_xref="MIM:619842"
ORIGIN      
        1 mmslsvrpqr rllsarvnrs qsfagvlgsh ergprsfpvf sppgpprkpp alsrvsrmfs
       61 vahpaakvpq perldlvyta lkrgltayle vhqqeqeklq gqireskrns rlgflydldk
      121 qvksierflr rlefhaskid elyeaycvqr rlrdgaynmv rayttgspgs reardslaea
      181 trghreytes mclleselea qlgefhlrmk glagfarlcv gdqyeaassy lfpqicmkyg
      241 rqrwklrgri egsgkqvwds eetiflpllt eflsikvtel kglanhvvvg svscetkdlf
      301 aalpqvvavd indlgtikls levtwspfdk ddqpsaassv nkastvtkrf stysqsppdt
      361 pslreqafyn mlrrqeelen gtawslsses sddssspqls gtarhspapr plvqqpeplp
      421 iqvafrrpet pssgpldeeg avapvlangh apysrtlshi seasvdaala easveavgpe
      481 slawgpsppt hpapthgehp spvppaldpg hsatsstlgt tgsvptstdp apsahldsvh
      541 kstdsgpsel pgpthtttgs tysaittths apsplthttt gsthkpiist ltttgptlni
      601 igpvqtttsp thtmpsptht taspthtsts pthtptspth ktsmsppttt sptpsgmglv
      661 qtatspthpt tspthpttsp ilinvspsts lelatlssps khsdptlpgt dslpcsppvs
      721 nsytqadpma prtphpspah ssrkpltspa pdpsestvqs lsptpspptp apqhsdlcla
      781 mavqtpvpta aggsgdrsle ealgalmaal ddyrgqfpel qgleqevtrl esllmqrqgl
      841 trsrasslsi tvehalesfs flnedededn dvpgdrppss peagaedsid spsarplstg
      901 cpaldaalvr hlyhcsrlll klgtfgplrc qeawalerll rearvleavc efsrrweipa
      961 ssaqevvqfs asrpgfltfw dqcterlscf lcpvervllt fcnqygarls lrqpglaeav
     1021 cvkfledalg qklprrpqpg pgeqltvfqf wsfvetldsp tmeayvteta eevllvrnln
     1081 sddqavvlka lrlapegrlr rdglralssl lvhgnnkvma avstqlrsls lgptfreral
     1141 lcfldqlede dvqtrvagcl algcikapeg ieplvylcqt dteavreaar qslqqcgeeg
     1201 qsahrrlees ldalprifgp gsmastaf
//
LOCUS       XP_054170340             791 aa            linear   PRI 20-MAR-2023
DEFINITION  protein MTSS 2 isoform X10 [Homo sapiens].
ACCESSION   XP_054170340
VERSION     XP_054170340.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314365.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 10% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..791
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..791
                     /product="protein MTSS 2 isoform X10"
                     /calculated_mol_wt=84655
     CDS             1..791
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /coded_by="XM_054314365.1:354..2729"
                     /db_xref="GeneID:92154"
                     /db_xref="HGNC:HGNC:25094"
                     /db_xref="MIM:616951"
ORIGIN      
        1 mrqkevgpdh skrfkpdigh dlltcggktg easpgmmprt dsplpmtqss ypiwedfnsk
       61 atklhsqlrt tvlaavafld afqkvadmat ntrgatrdig saltrmcmrh rsietklrqf
      121 tnalleslin plqeriedwk kaanqldkdh akeykrarhe ikkkssdtlk lqkkarkell
      181 gkgdlqpqld salqdvndmy llleetekqa vrralieerg rfctfitflq pvvngeltml
      241 geithlqgii ddlvvltaep hklppaseqv ikdlkgsdys wsyqtppssp sssssrkssm
      301 csapsssssa kgggapwpgg aqtyspsstc ryrslaqpat ttarlssvss hdsgfvsqda
      361 tyskppspmp sditsqlfrs ggprrtpspa hcpeqkssss asseasetcq svsecsspts
      421 dwskvgsheq psgatlqrrk drvellrdte pgpasggtlg psgeeaprpr mspatiaakh
      481 geevspaasd lamvltrgls lehqkssrds lqyssgystq tttpscsedt ipsqgsdydc
      541 ysvngdadse gppefdksst iprnsniaqn yrrliqtkrp astaglptag lptatglpsg
      601 appgvatirr tpstkptvrr alssagpipi rppivpvktp tvpdspgymg ptragseecv
      661 fytdetaspl apdlakaspk rlslpntawg spspeaagyp gagaedeqqq laanrhslve
      721 klgelvagah algegqfpfp talsatptee tptpppaats dppaedmlva irrgvrlrrt
      781 vtndrsapri l
//
LOCUS       XP_054170892             763 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane channel-like protein 6 isoform X2 [Homo sapiens].
ACCESSION   XP_054170892
VERSION     XP_054170892.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314917.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 16% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..763
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..763
                     /product="transmembrane channel-like protein 6 isoform X2"
                     /calculated_mol_wt=85294
     CDS             1..763
                     /gene="TMC6"
                     /gene_synonym="EV1; EVER1; EVIN1; LAK-4P; lnc; TNRC6C-AS1"
                     /coded_by="XM_054314917.1:288..2579"
                     /db_xref="GeneID:11322"
                     /db_xref="HGNC:HGNC:18021"
                     /db_xref="MIM:605828"
ORIGIN      
        1 maqplafild vpetpgdqgq gpspydesev hdsfqqliqe qsqctaqegl elqqrerevt
       61 gssqqtlwrp egtqstatlr ilasmpsrti grsrgaiisq yynrtvqlrc rssrpllgnf
      121 vrsawpslrl ydleldptal eeeekqsllv kelqslavaq rdhmlrgmpl slaekrslre
      181 ksrtprgkwr gqpgsggvcs ccgrlryacv ltllafnall llllvafimg pqvafppalp
      241 gpapvctgle lltgagcfth tvmyyghysn atlnqpcgsp ldgsqctprv gglpynmpla
      301 ylstvgvsff itcitlvysm ahsfgesyrv gstsgihait vfcswdykvt qkrasrlqqd
      361 nirtrlkell aewqlrhspr svcgrlrqaa vlglvwllcl gtalgcavav hvfsefmiqs
      421 peaagqeavl lvlplvvgll nlgapylcrv laalephdsp vlevyvaicr nlilklailg
      481 tlcyhwlgrr vgvlqgqcwe dfvgqelyrf lvmdfvlmll dtlfgelvwr iisekklkrr
      541 rkpefdiarn vleliygqtl twlgvlfspl lpavqiikll lvfyvkktsl lancqaprrp
      601 wlashmstvf ltllcfpafl gaavflcyav wqvkpsstcg pfrtldtmye agrvwvrhle
      661 aagprvswlp wvhrylment ffvflvsall laviylniqv vrgqrkvicl lkeqisnege
      721 dkiflinklh siyerkeree rsrvgtteea aappalltde qda
//
LOCUS       XP_054170975             957 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF19 isoform X6 [Homo sapiens].
ACCESSION   XP_054170975
VERSION     XP_054170975.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315000.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..957
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..957
                     /product="kinesin-like protein KIF19 isoform X6"
                     /calculated_mol_wt=106611
     CDS             1..957
                     /gene="KIF19"
                     /gene_synonym="KIF19A"
                     /coded_by="XM_054315000.1:125..2998"
                     /db_xref="GeneID:124602"
                     /db_xref="HGNC:HGNC:26735"
                     /db_xref="MIM:619610"
ORIGIN      
        1 mkdsgdskdq qlmvalrvrp isvaeleega tliahkvdeq mvvlmdpmed pddilrahrs
       61 reksylfdva fdftatqemv yqattkslie gvisgynatv faygptgcgk tytmlgtdqe
      121 pgiyvqtlnd lfraieetsn dmeyevsmsy leimqllmkg nrqrtqepta anqtssrsha
      181 vlqvtvrqrs rvknilqevr qgrlfmidla gserasqtqn rgqrmkegah inrsllalgn
      241 cinalsdkgs nkyinyrdsk ltrllkdslg gnsrtvmiah ispassafee srntltyagr
      301 akniktrvkq nllnvsyhia qytsiiadlr geiqrlkrki deqtgrgqar grqdrgdirh
      361 iqaevqlhsg qgekagmgql reqlasafqe qmdvrrrlle lenramevqi dtsrhlltia
      421 gwkheksrra lkwreeqrke cyakddsekd sdtgddqpdi leppevaaar esiaalvdeq
      481 kqlrkqklal eqrcrelrar grrleetlpr rigseeqrev lsllcrvhel eventemqsh
      541 allrdgalrh rheavrrleq hrslcdeiiq gqrqiidady nlavpqrlee lyevylrele
      601 egsleqatim dqvasralqd sslpkitpag tsltpdsdle svktlssdaq hlqnsalppl
      661 steseghhvf kagtgawqak sssvptpppi qlgslvtqea paqdslgswi nsspdssenl
      721 seiplshker keiltgtkci wvkaarrrsr algtegrhll aptterssls lhslsegdda
      781 rppgplackr ppsptlqhaa sednlssstg eapsravghh gdgprpwlrg qkkslgkkre
      841 esleakrrkr rsrsfevtgq glshpkthll gphqaerisd hrmpvcrhpa pgirhpgkvt
      901 lplakvklpp sqntgpgdss plavppnpgg gsrratrgpr lphgtsthgk dgcsrhn
//
LOCUS       XP_054172966             722 aa            linear   PRI 20-MAR-2023
DEFINITION  signal transducer and activator of transcription 3 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054172966
VERSION     XP_054172966.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316991.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..722
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..722
                     /product="signal transducer and activator of transcription
                     3 isoform X1"
                     /calculated_mol_wt=82996
     CDS             1..722
                     /gene="STAT3"
                     /gene_synonym="ADMIO; ADMIO1; APRF; HIES"
                     /coded_by="XM_054316991.1:169..2337"
                     /db_xref="GeneID:6774"
                     /db_xref="HGNC:HGNC:11364"
                     /db_xref="MIM:102582"
ORIGIN      
        1 maqwnqlqql dtryleqlhq lysdsfpmel rqflapwies qdwayaaske shatlvfhnl
       61 lgeidqqysr flqesnvlyq hnlrrikqfl qsrylekpme iarivarclw eesrllqtaa
      121 taaqqggqan hptaavvtek qqmleqhlqd vrkrvqdleq kmkvvenlqd dfdfnyktlk
      181 sqgdmqdlng nnqsvtrqkm qqleqmltal dqmrrsivse lagllsamey vqktltdeel
      241 adwkrrqqia ciggppnicl drlenwitsl aesqlqtrqq ikkleelqqk vsykgdpivq
      301 hrpmleeriv elfrnlmksa fvverqpcmp mhpdrplvik tgvqfttkvr llvkfpelny
      361 qlkikvcidk dsgdvaalrg srkfnilgtn tkvmnmeesn ngslsaefkh ltlreqrcgn
      421 ggrancdasl ivteelhlit fetevyhqgl kidlethslp vvvisnicqm pnawasilwy
      481 nmltnnpknv nfftkppigt wdqvaevlsw qfssttkrgl sieqlttlae kllgpgvnys
      541 gcqitwakfc kenmagkgfs fwvwldniid lvkkyilalw negyimgfis kererailst
      601 kppgtfllrf sesskeggvt ftwvekdisg ktqiqsvepy tkqqlnnmsf aeiimgykim
      661 datnilvspl vylypdipke eafgkycrpe sqehpeadpg saapylktkf icvtpfidav
      721 wk
//
LOCUS       XP_054174262             203 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF152 isoform X1 [Homo sapiens].
ACCESSION   XP_054174262
VERSION     XP_054174262.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318287.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..203
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..203
                     /product="E3 ubiquitin-protein ligase RNF152 isoform X1"
                     /calculated_mol_wt=22226
     CDS             1..203
                     /gene="RNF152"
                     /coded_by="XM_054318287.1:924..1535"
                     /db_xref="GeneID:220441"
                     /db_xref="HGNC:HGNC:26811"
                     /db_xref="MIM:616512"
ORIGIN      
        1 metlsqdsll ecqicfnyys prrrpklldc khtccsvclq qmrtsqkdvr cpwcrgvtkl
       61 ppgfsvsqlp ddpevlavia iphtsehtpv fiklpsngcy mlplpisker allpgdmgcr
      121 llpgsqqksv tvvtipaeqq plqggapqea veeeqdrrgv vksstwsgvc tvilvacvlv
      181 fllgivlhnm sciskrftvi scg
//
LOCUS       XP_054174370            1011 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase NEDD4-like isoform X12 [Homo sapiens].
ACCESSION   XP_054174370
VERSION     XP_054174370.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318395.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1011
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1011
                     /product="E3 ubiquitin-protein ligase NEDD4-like isoform
                     X12"
                     /calculated_mol_wt=116113
     CDS             1..1011
                     /gene="NEDD4L"
                     /gene_synonym="hNEDD4-2; NEDD4-2; NEDD4.2; PVNH7; RSP5"
                     /coded_by="XM_054318395.1:217..3252"
                     /db_xref="GeneID:23327"
                     /db_xref="HGNC:HGNC:7728"
                     /db_xref="MIM:606384"
ORIGIN      
        1 mrrlafeqge srilrvkvvs gidlakkdif gasfcsiave lffgrdirki tkcesdnsnd
       61 pyvklslyva denrelalvq tktikktlnp kwneefyfrv npsnhrllfe vfdenrltrd
      121 dflgqvdvpl shlptedptm erpytfkdfl lrprshksrv kgflrlkmay mpknggqdee
      181 nsdqrddmeh gwevvdsnds asqhqeelpp pplppgweek vdnlgrtyyv nhnnrttqwh
      241 rpslmdvsse sdnnirqinq eaahrrfrsr rhisedlepe pseggdvpep wetiseevni
      301 agdslglalp pppaspgsrt spqelseels rrlqitpdsn geqfssliqr epssrlrscs
      361 vtdavaeqgh lpppsapagr arsstvtgge eptpsvayvh ttpglpsgwe erkdakgrty
      421 yvnhnnrttt wtrpimqlae dgasgsatns nnhliepqir rprslssptv tlsaplegak
      481 dspvrravkd tlsnpqspqp spynspkpqh kvtqsflppg wemriapngr pffidhntkt
      541 ttwedprlkf pvhmrsktsl npndlgplpp gweerihldg rtfyidhssq vlcgendtre
      601 svpsydskit qwedprlqnp aitgpavpys refkqkydyf rkklkkpadi pnrfemklhr
      661 nnifeesyrr imsvkrpdvl karlwiefes ekgldyggva rewffllske mfnpyyglfe
      721 ysatdnytlq inpnsglcne dhlsyftfig rvaglavfhg klldgffirp fykmmlgkqi
      781 tlndmesvds eyynslkwil endpteldlm fcideenfgq tyqvdlkpng seimvtnenk
      841 reyidlviqw rfvnrvqkqm naflegftel lpidlikifd enelellmcg lgdvdvndwr
      901 qhsiykngyc pnhpviqwfw kavllmdaek rirllqfvtg tsrvpmngfa elygsngpql
      961 ftieqwgspe klprahtcfn rldlppyetf edlrekllma venaqgfegv d
//
LOCUS       XP_054174396            1363 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 7 isoform X2 [Homo sapiens].
ACCESSION   XP_054174396
VERSION     XP_054174396.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318421.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1363
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1363
                     /product="WD repeat-containing protein 7 isoform X2"
                     /calculated_mol_wt=150103
     CDS             1..1363
                     /gene="WDR7"
                     /gene_synonym="TRAG"
                     /coded_by="XM_054318421.1:238..4329"
                     /db_xref="GeneID:23335"
                     /db_xref="HGNC:HGNC:13490"
                     /db_xref="MIM:613473"
ORIGIN      
        1 magnslvlpi vlwgrkapth cisavlltdd gativtgchd gqiclwdlsv elqinprall
       61 fghtasitcl skacassdkq yivsasesge mclwdvsdgr cieftklact htgiqfyqfs
      121 vgnqregrll chghypeilv vdatslevly slvskispdw issmsiirsh rtqedtvval
      181 svtgilkvwi vtseisdmqd tepifeeesk piycqncqsi sfcaftqrsl lvvcskywrv
      241 fdagdysllc sgpsengqtw tggdfvssdk viiwtengqs yiyklpascl pasdsfrsdv
      301 gkavenlipp vqhilldrkd kellicppvt rffygcreyf hklliqgdss grlniwnisd
      361 tadkqgseeg lamttsislq eafdklnpcp agiidqlsvi pnsneplkvt asvyipahgr
      421 lvcgredgsi vivpatqtai vqllqgehml rrgwpphrtl rghrnkvtcl lyphqvsary
      481 dqrylisggv dfsviiwdif sgemkhifcv hggeitqllv ppencsarvq hcicsvasdh
      541 svgllslrek kcimlasrhl fpiqvikwrp sddylvvgcs dgsvyvwqmd tgaldrcvmg
      601 itaveilnac deavpaavds lshpavnlkq amtrrslaal knmahhklqt latnllasea
      661 sdkgnlpkys hnslmvqaik tnltdpdihv lffdvealii qllteeasrp ntalispenl
      721 qkasgssdkg gsfltgkraa vlfqqvketi kenikehlld deeedeeimr qrreesdpey
      781 rsskskpltl leynltmdta klfmsclhaw glnevldevc ldrlgmlkph ctvsfgllsr
      841 gghmslmlpg ynqpacklsh gktevgrklp asegvgkgty gvsravttqh llsiislant
      901 lmsmtnatfi gdhmkkgptr pprpstpdls kargspptss nivqgqikqg wsqlaamhcv
      961 mlpdllgldk frppllemla rrwqdrclev reaaqallla elrrieqagr keaidawapy
     1021 lpqyidhvis pgvtseaaqt ittapdasgp eakvqeeehd lvdddittgc lssvpqmkki
     1081 stsyeerrkq ataivllgvi gaefgaeiep pklltrprss sqipegfglt sggsnyslar
     1141 htckaltfll lqppspklpp hstirrtaid ligrgftvwe pymdvsavlm gllelcadae
     1201 kqlanitmgl plspaadsar sarhalslia tarppafitt iakevhrhta laantqsqqn
     1261 mhtttlarak geilrvieil iekmptdvvd llvevmdiim yclegslvkk kglqecfpai
     1321 crfymvsyye rnhriavgar hgsvalydir tgkcqalyqa ker
//
LOCUS       XP_054174996             424 aa            linear   PRI 20-MAR-2023
DEFINITION  urea transporter 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054174996
VERSION     XP_054174996.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319021.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..424
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..424
                     /product="urea transporter 1 isoform X1"
                     /calculated_mol_wt=46315
     CDS             1..424
                     /gene="SLC14A1"
                     /gene_synonym="HsT1341; HUT11; HUT11A; JK; Jk(a); Jk(b);
                     RACH1; RACH2; UT-B1; UT1; UTE"
                     /coded_by="XM_054319021.1:296..1570"
                     /db_xref="GeneID:6563"
                     /db_xref="HGNC:HGNC:10918"
                     /db_xref="MIM:613868"
ORIGIN      
        1 mfvgpdtapy eikdqnilmv alqtlmakep eeeiamedsp tmvrvdsptm vrgenqvspc
       61 qgrrcfpkal gyvtgdmkel anqlkdkpvv lqfidwilrg isqvvfvnnp vsgililvgl
      121 lvqnpwwalt gwlgtvvstl malllsqdrs liasglygyn atlvgvlmav fsdkgdyfww
      181 lllpvcamsm tcpifssaln smlskwdlpv ftlpfnmals mylsatghyn pffpaklvip
      241 ittapnisws dlsalellks ipvgvgqiyg cdnpwtggif lgaillsspl mclhaaigsl
      301 lgiaaglsls apfeniyfgl wgfnsslaci amggmfmalt wqthllalgc alftaylgvg
      361 manfmaevgl pactwpfcla tllflimttk nsniykmpls kvtypeenri fylqakkrmv
      421 espl
//
LOCUS       XP_054176672            1432 aa            linear   PRI 20-MAR-2023
DEFINITION  NACHT domain- and WD repeat-containing protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054176672
VERSION     XP_054176672.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320697.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1432
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1432
                     /product="NACHT domain- and WD repeat-containing protein 1
                     isoform X2"
                     /calculated_mol_wt=159752
     CDS             1..1432
                     /gene="NWD1"
                     /coded_by="XM_054320697.1:775..5073"
                     /db_xref="GeneID:284434"
                     /db_xref="HGNC:HGNC:27619"
                     /db_xref="MIM:616250"
ORIGIN      
        1 mqrgkpcral ptlkcqtfcq rhglmfevvd lrwgirniea tdhlttelcl eevdrcwkts
       61 igpafvalig dqygpclips ridekewevl rdhltarpsd lelvaryfqr denafpptyv
      121 lqapgtgeac epeeatltsv lrsgaqearr lglitqeqwq hyhrsviewe iersllssed
      181 reqgatvflr eiqdlhkhil edcalrmvdr ladgcldtda qnllsslksh itdmhpgvlk
      241 thrlpwsrdl vnpknkthac ylkelgeqfv vranhqvltr lreldtagqe lawlyqeirh
      301 hlwqsseviq tfcgrqella rlgqqlrhdd skqhtplvlf gppgigktal mcklaeqmpr
      361 llghktvtvl rllgtsqmss dargllksic fqvclayglp lppaqvldah trvvqffhtl
      421 lhtvscrnfe slvllldamd dldsvrharr vpwlplncpp rvhlilsacs galgvldtlq
      481 rvlldpeayw evkplsgnqg qqmiqlllaa arrtlspvht dllwaslpec gnpgrlrlaf
      541 eearkwasft vpvplattae eathqlctrl eqthgqllva hvlgyivssr hglseaelkd
      601 vlslddevlq dvyrdwtpps kellrfppll wvrlrrdlgy ylarrpvdgf tllaiahrql
      661 vevvreryls gserakrhgv ladffsgtws qgtkklitlp lvgkplnldr kvapqplwfs
      721 htvanlrklk elpyhllhsg rleelkqevl gsmswiscrg isggiedlld dfdlcaphld
      781 spevglvrea lqlcrpavel rgmersllyt ellarlhffa tshpalvgql cqqaqswfql
      841 cahpvlvplg gflqppggpl ratlsgchkg itamawgvee kllvigtqdg imavwdmeeq
      901 hvihmltght gevrcvkifa kgtlaisask dytlhlwnll sgqekftiwd ggsknpaepq
      961 iwnlhvdeah kvvysasgsk inawnletae pvfhilgdas dpwmcmavla sqatlltvsr
     1021 dgvvslwssa tgklqgkqhm ssikeetptc avsvqkqgkl vtgfsngsis lvsskgdrll
     1081 eklpdavrfl vvsedeslla agfgrsvrif ladsrgfrrf mamdlehedm vetavfgten
     1141 nliitgslda liqvwslseq gtlldilegv gapvsllarg galvasaspq sssfkvwdls
     1201 dahrsrvpap fldrtgltav shngsyvyfp kigdknkvti wdlaegeeqd sldtsseirc
     1261 levaeqrkll ftglvsgvvl vfplnsrqdv icipppeark aincmslskc edrlaiaydn
     1321 ivlvlditsg dpcpvidgpr ytfytqlpet lssvailtdy rvvysmtngd lflyecatsk
     1381 afplethrsr vacvevshke qlvvsgseda llclwdlqar kwkfemsyta pc
//
LOCUS       XP_054178332            1595 aa            linear   PRI 20-MAR-2023
DEFINITION  fibrillin-3 isoform X7 [Homo sapiens].
ACCESSION   XP_054178332
VERSION     XP_054178332.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322357.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1595
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1595
                     /product="fibrillin-3 isoform X7"
                     /calculated_mol_wt=171811
     CDS             1..1595
                     /gene="FBN3"
                     /coded_by="XM_054322357.1:249..5036"
                     /db_xref="GeneID:84467"
                     /db_xref="HGNC:HGNC:18794"
                     /db_xref="MIM:608529"
ORIGIN      
        1 mpgghrclcy dgfmatpdmr tcvdvdecdl nphiclhgdc entkgsfvch cqlgymvrkg
       61 atgcsdvdec evgghncdsh asclnipgsf scrclpgwvg dgfechdlde cisqehrcsp
      121 rgdclnvpgs yrctcrqgfa gdgffcedrd ecaenvdlcd ngqclnapgg yrcecemgfd
      181 ptedhracqd vdecaqgnlc afgscenlpg mfrcicnggy eldrgggnct dinecadpvn
      241 cingvcintp gsylcscpqd felnpsgvgc vdtragncfl ethdrgdsgi scsaeigvgv
      301 trascccslg rawgnpcelc pmantteyrt lcpggegfqp nritviledi decqelpglc
      361 qggdcvntfg sfqcecppgy hlsehtrice didecsthsg icgpgtcynt lgnytcvcpa
      421 eylqvnggnn cmdmrksvcf rhyngtcqne lafnvtrkmc ccsynigqaw nrpceacptp
      481 ispdyqilcg nqapgfltdi htgkpldide cgeipaican gicinqigsf rcecpagfny
      541 nsillacedv decgsrespc qqnadcinip gsyrckctrg yklspggacv grnecreipn
      601 vcshgdcmdt egsymclchr gfqasadqtl cmdidecdrq pcgngtckni igsykclcfp
      661 gfvvthngdc vdfdecttlv gqvcrfghcl ntagsfhclc qdgfeltadg kncvdtnecl
      721 slagtclpgt cqnlegsfrc icphgfqvqs dhcididecs eepnlclfgt ctnspgsfqc
      781 lcppgfvlsd nghrcfdtrq sfcftrfeag kcsvpkafnt tktrcccskr pgegwgdpce
      841 lcpqegsaaf qelcpfghga vpgpddsred vnecaenpgv ctngvcvntd gsfrcecpfg
      901 ysldftginc vdtdecsvgh pcgqgtctnv iggfecacad gfepglmmtc edidecslnp
      961 llcafrchnt egsylctcpa gytlredgam crdvdecadg qqdchargme cknligtfac
     1021 vcppgmrplp gsgegctddn echaqpdlcv ngrcvntags frcdcdegfq psptltechd
     1081 irqgpcfaev lqtmcrslss sseavtraec ccgggrgwgp rcelcplpgt sayrklcphg
     1141 sgytaegrdv decrmlahlc ahgecinslg sfrchcqagy tpdatattcl dmdecsqvpk
     1201 pctflckntk gsflcscprg ylleedgrtc kdldectsrq hncqflcvnt vgaftcrcpp
     1261 gftqhhqacf dndecsaqpg pcgahghchn tpgsfrcech qgftlvssgh gcedvnecdg
     1321 phrcqhgcqn qlggyrcscp qgftqhsqwa qcvdenecal spptcgsasc rntlggfrcv
     1381 cpsgfdfdqa lggcqdvdec agrrgpcsys cantpggflc gcpqgyfrag qghcvsglgf
     1441 spgpqdtpdk eellsseacy eckinglspr drprrsahrd hqvnlatlds ealltlglnl
     1501 shlgraeril elrpalegle griryvivrg neqgffrmhh lrgvsslqlg rrrpgpgtyr
     1561 levvshmagp wgvqpegqpg pwgqalrlkv qlqll
//
LOCUS       XP_054196679             529 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA pseudouridine synthase Pus10 isoform X1 [Homo sapiens].
ACCESSION   XP_054196679
VERSION     XP_054196679.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340704.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..529
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..529
                     /product="tRNA pseudouridine synthase Pus10 isoform X1"
                     /calculated_mol_wt=60113
     CDS             1..529
                     /gene="PUS10"
                     /gene_synonym="CCDC139; DOBI; Hup10"
                     /coded_by="XM_054340704.1:161..1750"
                     /db_xref="GeneID:150962"
                     /db_xref="HGNC:HGNC:26505"
                     /db_xref="MIM:612787"
ORIGIN      
        1 mfplteenkh vaqlllntgt cprcifrfcg vdfhapyklp ykellnelqk fletekdeli
       61 levmnpppkk irlqeledsi dnlsqngegr isvshvgsta sknsnlnvcn vclgilqefc
      121 ekdfikkvcq kveasgfeft slvfsvsfpp qlsvrehaaw llvkqemgkq slslgrddiv
      181 qlkeaykwit hplfseelgv pidgkslfev svvfahpetv edchflaaic pdcfkpaknk
      241 qsvftrmavm kalnkikeed flkqfpcppn spkavcavle iecahgavfv agrynkysrn
      301 lpqtpwiidg erklessvee lisdhllavf kaesfnfsss gredvdvrtl gngrpfaiel
      361 vnphrvhfts qeikelqqki nnssnkiqvr dlqlvtreai ghmkegeeek tktysaliwt
      421 nkaiqkkdie flndikdlki dqktplrvlh rrplavrarv ihfmetqyvd ehhfrlhlkt
      481 qagtyikefv hgdfgrtkpn igslmnvtad ileldvesvd vdwppaldd
//
LOCUS       XP_054197993            1960 aa            linear   PRI 20-MAR-2023
DEFINITION  echinoderm microtubule-associated protein-like 6 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054197993
VERSION     XP_054197993.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342018.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1960
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1960
                     /product="echinoderm microtubule-associated protein-like 6
                     isoform X2"
                     /calculated_mol_wt=217924
     CDS             1..1960
                     /gene="EML6"
                     /coded_by="XM_054342018.1:630..6512"
                     /db_xref="GeneID:400954"
                     /db_xref="HGNC:HGNC:35412"
ORIGIN      
        1 madrtaprcq lrlewvygyr ghqcrnnlyy tagkevvyfv agvgvvyntr ehsqkfflgh
       61 nddiislalh pdktlvatgq vgkepyiciw dsynvqtvsl lkdvhthgva clafdsdgqr
      121 lasvgldakn tvciwdwrkg kllasatghs drifdiswdp yqpnrvvscg vkhikfwtlc
      181 gnaltakrgi fgktgdlqti lclacakedi tysgalngdi yvwkglnlvr tiqgahsagi
      241 fsmyaceegf atggrdgcir lwdtdfkpit kidlreteqg ykglsirsvc wkadrllagt
      301 qdseifeviv rerdkpmlil qghcegelwa lalhpkkpla vtgsddrsvr lwsladhali
      361 arcnmeeavr svafspdgsq lalgmkdgsf ivlrvrdmte vvhikdrkev ihemkfspdg
      421 sylavgsndg pvdvyavaqr ykkigecsks lsfithidws ldskylqtnd gagerlfyrm
      481 psgkpltske eikgipwasw tcvkgpevsg iwpkytevtd insvdanyns svlvsgddfg
      541 lvklfkfpcl krgakfrkyv ghsahvtnvr wshdfqwvls tggadhsvfq wrfipegvsn
      601 gmletapqeg gadsyseesd sdlsdvpeld sdieqeaqin ydrqvykedl pqlkqqskek
      661 nhavpflkre kapedslklq fihgyrgydc rnnlfytqag evvyhiaava vvynrqqhsq
      721 rlylghdddi lsltihpvkd yvatgqvgrd aaihvwdtqt lkclsllkgq hqrgvcaldf
      781 sadgkclvsv glddfhsivf wdwkkgekia ttrghkdkif vvkcnphhvd klvtvgikhi
      841 kfwqqagggf tskrgtfgsv gkletmmcvs ygrmedlvfs gaatgdifiw kdilllktvk
      901 ahdgpvfamy aldkgfvtgg kdgivelwdd mferclktya ikrsalstss kglllednps
      961 iraitlghgh ilvgtkngei leidksgpmt llvqghmege vwglaahpll picatvsddk
     1021 tlriwelsaq hrmlavrklk kggrccafsp dgkalavgln dgsflvvnad tvedmvsfhh
     1081 rkemisdikf skdtgkylav ashdnfvdiy nvltskrvgi ckgassyith idwdsrgkll
     1141 qvnsgareql ffeaprgkrh iirpseieki ewdtwtcvlg ptcegiwpah sditdvnaas
     1201 ltkdcsllat gddfgfvklf sypvkgqhar fkkyvghsah vtnvrwlhnd svlltvggad
     1261 talmiwtref vgtqesklvd seesdtdvee dggydsdvar ekaidyttki yavsiremeg
     1321 tkphqqlkev sveerqgivk gsrppvsraa pqpeklqknn itkkkklvee laldhvfgyr
     1381 gfdcrnnlhy lndgadiifh taaagivqnl stgsqsfyle htddilcltv nqhpkyrnvv
     1441 atsqigttps ihiwdamtkh tlsmlrcfhs kgvnyinfsa tgkllvsvgv dpehtitvwr
     1501 wqegakvasr gghlerifvv efrpdsdtqf vsvgvkhmkf wtlagsally kkgvigslga
     1561 akmqtmlsva fgannltftg aingdvyvwk dhflirlvak ahtgpvftmy ttlrdglivt
     1621 ggkerptkeg gavklwdqem krcrafqlet gqlvecvrsv crgkgkilvg tkdgeiievg
     1681 eknaasnili dghmegeiwg lathpskdlf isasndgtar iwdladkkll nkvslghaar
     1741 caayspdgem vaigmkngef villvnslkv wgkkrdrksa iqdirispdn rflavgsseh
     1801 tvdfydltqg tnlnrigyck dipsfviqmd fsadgkyiqv stgaykrqvh evplgkqvte
     1861 avviekitwa swtsvlgdev igiwprnadk advncacvth aglnivtgdd fglvklfdfp
     1921 ctekfakhkr yfghsahvtn irfsyddkyv vstggddcry
//
LOCUS       XP_054199215             810 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA1-associated RING domain protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054199215
VERSION     XP_054199215.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343240.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..810
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..810
                     /product="BRCA1-associated RING domain protein 1 isoform
                     X1"
                     /calculated_mol_wt=90372
     CDS             1..810
                     /gene="BARD1"
                     /coded_by="XM_054343240.1:115..2547"
                     /db_xref="GeneID:580"
                     /db_xref="HGNC:HGNC:952"
                     /db_xref="MIM:601593"
ORIGIN      
        1 mpdnrqprnr qprirsgnep rsapamepdg rgawahsraa ldrlekllrc srctnilrep
       61 vclggcehif crglgpvtrn vlwclgkmwl fncyitysvl lepicncvsd cigtgcpvcy
      121 tpawiqdlki nrqldsmiql csklrnllhd nelsdlkedk prkslfndag nkknsikmwf
      181 sprskkvryv vskasvqtqp aikkdasaqq dsyefvspsp padvserakk asarsgkkqk
      241 kktlaeinqk wnleaekedg efdskeeskq klvsfcsqps visspqinge idllasgslt
      301 esecfgslte vslplaeqie spdtksrnev vtpekvckny ltskkslple nngkrghhnr
      361 lsspiskrcr tsilstsgdf vkqtvpseni plpecsspps ckrkvggtsg rknsnmsdef
      421 islspgtpps tlssssyrrv msspsamkll pnmavkrnhr getllhiasi kgdipsveyl
      481 lqngsdpnvk dhagwtplhe acnhghlkvv elllqhkalv nttgyqndsp lhdaaknghv
      541 divklllsyg asrnavnifg lrpvdytdde smksllllpe knesssashc svmntgqrrd
      601 gplvligsgl sseqqkmlse lavilkakky tefdstvthv vvpgdavqst lkcmlgilng
      661 cwilkfewvk aclrrkvceq eekyeipegp rrsrlnreql lpklfdgcyf ylwgtfkhhp
      721 kdnliklvta gggqilsrkp kpdsdvtqti ntvayharpd sdqrfctqyi iyedlcnyhp
      781 ervrqgkvwk apsswfidcv msfellplds
//
LOCUS       XP_054199918             349 aa            linear   PRI 20-MAR-2023
DEFINITION  glycosyltransferase-like domain-containing protein 1 isoform X11
            [Homo sapiens].
ACCESSION   XP_054199918
VERSION     XP_054199918.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343943.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..349
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..349
                     /product="glycosyltransferase-like domain-containing
                     protein 1 isoform X11"
                     /calculated_mol_wt=40017
     CDS             1..349
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa"
                     /coded_by="XM_054343943.1:191..1240"
                     /db_xref="GeneID:79712"
                     /db_xref="HGNC:HGNC:20887"
                     /db_xref="MIM:610165"
ORIGIN      
        1 mgseglngpm siliieafyg gshkqlvdll qeelgdcvvy tlpakkwhwr artsalyfsq
       61 tipisehyrt lfassvlnlt elaalrpdlg klkkilyfhe nqliypvkkc qerdfqygyn
      121 qilsclvadv vvfnsvfnme sfltsmgkfm klipdhrpkd lesiirpkcq viyfpirfpd
      181 vsrehdkdpe sffkvlmhlk dlglnfhvsv lgetftdvpd ifseakkalg ssvlhwgylp
      241 skddyfqvlc madvvistak heffgvamle avycgcyplc pkdlvypeif paeylystpe
      301 qlskrlqnfc krpdiirkhl ykgeiapfsw aalhgkfrsl lttepredl
//
LOCUS       XP_054179085            1530 aa            linear   PRI 20-MAR-2023
DEFINITION  polycomb group protein ASXL1 isoform X5 [Homo sapiens].
ACCESSION   XP_054179085
VERSION     XP_054179085.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323110.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1530
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1530
                     /product="polycomb group protein ASXL1 isoform X5"
                     /calculated_mol_wt=163863
     CDS             1..1530
                     /gene="ASXL1"
                     /gene_synonym="BOPS; MDS"
                     /coded_by="XM_054323110.1:244..4836"
                     /db_xref="GeneID:171023"
                     /db_xref="HGNC:HGNC:18318"
                     /db_xref="MIM:612990"
ORIGIN      
        1 mlsfpnlnqv lenysdapmt pkqilqviea eglkemsgts placlnamlh snsrggeglf
       61 yklpgrislf tlkkdalqws rhpatvegee pedtadvesc gsneastvsg endvsldets
      121 snascstesq srplsnprds yrassqankq kkktgvmlpr vvltplkvng ahvesasgfs
      181 gchadgesgs psssssgsla lgsaairgqa evtqdpapll rgfrkpatgq mkrnrgeeid
      241 fetpgsilvn tnlralinsr tfhalpshfq qqllfllpev drqvgtdgll rlsssalnne
      301 ffthaaqswr erladgefth emqvrirqem ekekkveqwk ekffedyygq klgltkeesl
      361 qqnvgqeeae iksglcvpge svriqrgpat rqrdghfkkr srpdlrtrar rnlykkqese
      421 qagvakdaks vasdvplykd geaktdpagl ssphlpgtss aapdlegpef pvesvasriq
      481 aepdnlaras aspdripslp qetvdqepkd qkrksfeqaa sasfpekkpr ledrqsfrnt
      541 iesvhtekpq ptkeepkvpp iriqlsrikp pwvvkgqpty qicpriiptt esscrgwtga
      601 rtladikara lqvrgarghh chreaattai gggggpgggg ggatdegggr gsssgdggea
      661 cghpeprggp stpgkctsdl qrtqllppyp lngehtqagt amsrarredl pslrkeescl
      721 lqratvgltd glgdasqlpv aptgdqpcqa lpllssqtsv aerlveqpql hpdvrteces
      781 gttswesdde eqgptvpadn gpipslvgdd tlekgtgqal dshptmkdpv nvtpsstpes
      841 sptdclqnra fddelglggs cppmresdtr qenlktkalv snsslhwipi psndevvkqp
      901 kpesrehips vepqvgeewe kaaptppalp gdltaeegld pldsltslwt vpsrggsdsn
      961 gsycqqvdie klkingdsea lsphgestdt asdfeghlte dsseadtrea avtkgssvdk
     1021 dekpnwnqsa plskvngdmr lvtrtdgmva pqswvsrvca vrqkipdsll lasteyqpra
     1081 vclsmpgssv eatnplvmql lqgslplekv lppahddsms espqvpltkd qshgslrmgs
     1141 lhglgknsgm vdgsspsslr alkepllpds cetgtglari eatqapgapq knckavpsfd
     1201 slhpvtnpit ssrkleemds keqfssfsce dqkevramsq dsnsnaapgk spgdlttsrt
     1261 prfsspnvis fgpeqtgral gdqsnvtgqg kklfgsgnva atlqrprpad pmplpaeipp
     1321 vfpsgklgps tnsmsggvqt predwapkph afvgsvknek tfvggplkan aenrkatghs
     1381 plelvghleg mpfvmdlpfw klprepgkgl seplepsslp sqlsikqafy gklsklqlss
     1441 tsfnyssssp tfpkglagsv vqlshkanfg ashsaslslq mftdsstves islqcacslk
     1501 amimcqgcga fchddcigps klcvlclvvr
//
LOCUS       XP_054180253             328 aa            linear   PRI 20-MAR-2023
DEFINITION  ras association domain-containing protein 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054180253
VERSION     XP_054180253.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324278.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..328
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..328
                     /product="ras association domain-containing protein 2
                     isoform X1"
                     /calculated_mol_wt=37865
     CDS             1..328
                     /gene="RASSF2"
                     /gene_synonym="CENP-34; RASFADIN"
                     /coded_by="XM_054324278.1:160..1146"
                     /db_xref="GeneID:9770"
                     /db_xref="HGNC:HGNC:9883"
                     /db_xref="MIM:609492"
ORIGIN      
        1 mdyshqtslv pcgqdkyisk nelllhlkty nlyyegqnlq lrhreeedef ivegllnisw
       61 glrrpirlqm qddnerirpp psssswhsgc nlgaqgttlk pltvpkvqis evdappegdq
      121 mpsstgtysr glkplqedtp qlmrtrsdvg vrrrgnvrtp sdqrrirrhr fsinghfynh
      181 ktsvftpayg svtnvrinst mttpqvlkll lnkfkiensa eefalyvvht sgekqklkat
      241 dypliarilq gpceqiskvf lmekdqveev tydvaqyikf empvlksfiq klqeeedrev
      301 kklmrkytvl rlmirqrlee iaetpati
//
LOCUS       XP_054202653             483 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 3 isoform X4 [Homo sapiens].
ACCESSION   XP_054202653
VERSION     XP_054202653.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346678.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..483
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..483
                     /product="rho guanine nucleotide exchange factor 3 isoform
                     X4"
                     /calculated_mol_wt=55418
     CDS             1..483
                     /gene="ARHGEF3"
                     /gene_synonym="GEF3; STA3; XPLN"
                     /coded_by="XM_054346678.1:71..1522"
                     /db_xref="GeneID:50650"
                     /db_xref="HGNC:HGNC:683"
                     /db_xref="MIM:612115"
ORIGIN      
        1 mdsstamnqc scrgmeenke rpkrqrqnnf pmfpspkawn frgrkrkqst qdedavslcs
       61 ldisepsnkr vkplsrvtsl anlippvkat plkrfsqtlq rsisfrsesr pdilaprpws
      121 rnaapsstkr rdsklwsetf dvcvnqmlts keikrqeaif elsqgeedli edlklakkay
      181 hdpmlklsim teqelnqifg tldsliplhe ellsqlrdvr kpdgstehvg pilvgwlpcl
      241 ssydsycsnq vaakalldhk kqdhrvqdfl qrclespfsr kldlwnfldi prsrlvkypl
      301 llreilrhtp ndnpdqqhle eainiiqgiv aeintktges ecryykerll yleegqkdsl
      361 idssrvvcch gelknnrgvk lhvflfqevl vitravthne qlcyqlyrqp ipvkdllled
      421 lqdgelktss esvskmdpkv rptrykpmtl stnssgltvf vkpkkqfcvl pgklgcltpr
      481 drs
//
LOCUS       XP_054203568            1204 aa            linear   PRI 20-MAR-2023
DEFINITION  fibronectin type III domain-containing protein 3B isoform X1 [Homo
            sapiens].
ACCESSION   XP_054203568
VERSION     XP_054203568.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347593.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1204
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1204
                     /product="fibronectin type III domain-containing protein
                     3B isoform X1"
                     /calculated_mol_wt=132744
     CDS             1..1204
                     /gene="FNDC3B"
                     /gene_synonym="FAD104; PRO4979; YVTM2421"
                     /coded_by="XM_054347593.1:23366..26980"
                     /db_xref="GeneID:64778"
                     /db_xref="HGNC:HGNC:24670"
                     /db_xref="MIM:611909"
ORIGIN      
        1 myvtmmmtdq iplelpplln gevammphlv ngdaaqqvil vqvnpgetft iraedgtlqc
       61 iqgpaevpmm spngsippih vppgyisqvi edstgvrrvv vtpqspecyp psypsamspt
      121 hhlppylthh phfihnshta yyppvtgpgd mppqffpqhh lphtiygeqe iipfygmssy
      181 itredqyskp phkklkdrqi drqnrlnspp ssiykssctt vyngygkghs ggsggggsgs
      241 gpgikkterr arsspksnds dlqeyelevk rvqdilsgie kpqvsniqar avvlswappv
      301 glscgphsgl sfpysyeval sdkgrdgkyk iiysgeelec nlkdlrpatd yhvrvyamyn
      361 svkgscsepv sftthscape cpfppklahr skssltlqwk apidngskit nyllewdegk
      421 rnsgfrqcff gsqkhckltk lcpamgytfr laarndigts gysqevvcyt lgnipqmpsa
      481 prlvragitw vtlqwskpeg cspeevityt leiqedendn lfhpkytged ltctvknlkr
      541 stqykfrlta sntegkscps evlvcttspd rpgpptrplv kgpvtshgfs vkwdppkdng
      601 gseilkylle itdgnseanq wevaysgsat eytfthlkpg tlyklracci stgghsqcse
      661 slpvrtlsia pgqcrpprvl grpkhkevhl ewdvpasesg cevseysvem tepedvasev
      721 yhgpelectv gnllpgtvyr frvralndgg ygpysdvsei ttaagppgqc kapcisctpd
      781 gcvlvgwesp dssgadisey rlewgedees leliyhgtdt rfeirdllpa aqyccrlqaf
      841 nqagagpyse lvlcqtpasa pdpvstlcvl eeepldaypd spsaclvlnw eepcnngsei
      901 laytidlgdt sitvgnttmh vmkdllpett yririqaine igagpfsqfi kaktrplppl
      961 pprlecaaag pqslklkwgd snskthaaed ivytlqledr nkrfisiyrg pshtykvqrl
     1021 teftcysfri qaaseagegp fsetytfstt ksvpptikap rvtqlegnsc eilwetvpsm
     1081 kgdpvnyilq vlvgreseyk qvykgeeatf qisglqtntd yrfrvcacrr cldtsqelsg
     1141 afspsaafvl qrsevmltgd mgslddpkmk smmptdeqfa aiivlgfatl silfafilqy
     1201 flmk
//
LOCUS       XP_054204234             331 aa            linear   PRI 20-MAR-2023
DEFINITION  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_054204234
VERSION     XP_054204234.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348259.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 12% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..331
                     /product="UDP-GalNAc:beta-1,
                     3-N-acetylgalactosaminyltransferase 1 isoform X1"
                     /calculated_mol_wt=39381
     CDS             1..331
                     /gene="B3GALNT1"
                     /gene_synonym="B3GALANT1; B3GALT3; beta3Gal-T3; galT3;
                     Gb4Cer; GLCT3; GLOB; P1"
                     /coded_by="XM_054348259.1:767..1762"
                     /db_xref="GeneID:8706"
                     /db_xref="HGNC:HGNC:918"
                     /db_xref="MIM:603094"
ORIGIN      
        1 masalwtvlp srmslrslkw sllllsllsf fvmwylslph ynviervnwm yfyeyepiyr
       61 qdfhftlreh sncshqnpfl vilvtshpsd vkarqairvt wgekkswwgy evltffllgq
      121 eaekedkmla lsledehlly gdiirqdfld tynnltlkti mafrwvtefc pnakyvmktd
      181 tdvfintgnl vkyllnlnhs ekfftgypli dnysyrgfyq kthisyqeyp fkvfppycsg
      241 lgyimsrdlv priyemmghv kpikfedvyv giclnllkvn ihipedtnlf flyrihldvc
      301 qlrrviaahg fsskeiitfw qvmlrnttch y
//
LOCUS       XP_054205603            3065 aa            linear   PRI 20-MAR-2023
DEFINITION  biorientation of chromosomes in cell division protein 1-like 1
            isoform X7 [Homo sapiens].
ACCESSION   XP_054205603
VERSION     XP_054205603.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349628.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3065
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3065
                     /product="biorientation of chromosomes in cell division
                     protein 1-like 1 isoform X7"
                     /calculated_mol_wt=332073
     CDS             1..3065
                     /gene="BOD1L1"
                     /gene_synonym="BOD1L; FAM44A"
                     /coded_by="XM_054349628.1:139..9336"
                     /db_xref="GeneID:259282"
                     /db_xref="HGNC:HGNC:31792"
                     /db_xref="MIM:616746"
ORIGIN      
        1 matnpqpqpp ppappppppq pqpqpppppp gpgagpgagg aggagagagd pqlvamivnh
       61 lksqglfdqf rrdcladvdt kpayqnlrqr vdnfvanhla thtwsphlnk nqlrnnirqq
      121 vlksgmlesg idriisqvvd pkinhtfrpq vekavhefla tlnhkeegsg ntapddekpd
      181 tslitqgvpt pgpsanvand amsiletits lnqeasaara stetsnakts eraskklpsq
      241 pttdtstdke rtsedmadke kstadsggeg letapkseef sdlpcpveei knytkehnnl
      301 illnkdvqqe sseqknkstd kgekkpdsne kgerkkekke ktekkfdhsk ksedtqkvkd
      361 ekqakekeve slklpsekns nkaktvegtk edfslidsdv dgltditvss vhtsdlssfe
      421 edteeevvts dsmeegeits ddeeknkqnk tktqtsdsse gktksvrhay vhkpylysky
      481 ysdsddeltv eqrrqsiake keerllrrqi nrekleekrk qkaektkssk tkgqgrssvd
      541 leesstksle pkaarikevl kerkvlekkv alskkrkkds rnveenskkk qqyeedsket
      601 lktsehceke kissskelkh vhaksepskp arrlseslhv vdenkneski erehkrrtst
      661 pvimegvqee tdtrdvkrqv erseicteep qkqkstlkne khlkkddset phlksllkke
      721 vksskekper ektpsedkls vkhkykgdcm hktgdetelh ssekglkvee niqkqsqqtk
      781 lssddkterk skhrnerkls vlgkdgkpvs eyiiktdenv rkennkkerr lsaektkaeh
      841 ksrrssdski qkdslgskqh gitlqrrses ysedkcdmds tnmdsnlkpe evvhkekrrt
      901 kslleeklvl ksksktqgkq vkvvetelqe gatkqattpk pdkeknteen dsekqrkskv
      961 edkpfeetgv epvletasss ahstqkdssh raklplakek yksdkdstst rlerklsdgh
     1021 ksrslkhssk dikkkdenks ddkdgkevds shekargnss lmekklsrrl cenrrgslsq
     1081 emakgeekla antlstpsgs slqrpkksgd mtlipeqepm eidsepgven vfevsktqdn
     1141 rnnnsqqdid senmkqktsa tvqkdelrtc tadskatapa ykpgrgtgvn snsekhadhr
     1201 stltkkmhiq savskmnpge kepihrgtte vnidsetvhr mllsapsend rvqknlknta
     1261 aeehvaqgda tlehstnlds spslssvtvv plresydpdv iplfdkrtvl egstastspa
     1321 dhsalpnqsl tvresevlkt sdskeggegf tvdtpakasi tskrhipeah qatlldgkqg
     1381 kvimplgskl tgviveneni tkegglvdma kkendlnaep nlkqtikatv engkkdgiav
     1441 dhvvglntek yaetvklkhk rspgkvkdis idverrnens evdtsagsgs apsvlhqrng
     1501 qtedvatgpr raektsvats tegkdkdvtl spvkagpatt tssetrqsev alpctsiead
     1561 egliigthsr nnplhvgaea sectvfaaae eggavvtegf aesetfltst kegesgecav
     1621 aesedraadl lavhavkiea nvnsvvteek ddavtsagse ekcdgslsrd seivegtitf
     1681 isevesdgav tsagteirag sisseevdgs qgnmmrmgpk ketegtvtct gaegrsdnfv
     1741 icsvtgagpr eermvtgagv vlgdndappg tsasqegdgs vndgtegesa vtstgitedg
     1801 egpasctgse dssegfaiss eseengesam dstvakegtn vplvaagpcd degivtstga
     1861 keedeegedv vtstgrgnei ghastctglg eesegvlice saegdsqigt vvehveaeag
     1921 aaimnanenn vdsmsgtekg skdtdicssa kgivessvts avsgkdevtp vpggcegpmt
     1981 saasdqsdsq lekvedttis tglvggsydv lvsgevpece vahtspseke dediitsven
     2041 eecdglmatt asgditnqns laggknqgkv liiststtnd ytpqvsaitd vegglsdalr
     2101 teenmegtrv tteefeapmp savsgddsql tasrseekde camistsige efelpissat
     2161 tikcaeslqp vaaaveerat gpvlistadf egpmpsappe aesplastsk eekdecalis
     2221 tsiaeeceas vsgvvvesen eragtvmeek dgsgiistss vedcegpvss avpqeegdps
     2281 vtpaeemgdt amiststseg ceavmigavl qdedrltitr vedlsdaaii ststaecmpi
     2341 sasidrheen qltadnpegn gdlsatevsk hkvpmpslia enncrcpgpv rggkelgpvl
     2401 avsteeghng psvhkpsagq ghpsavcaek eekhgkecpe igpfagrgqk estlhlinae
     2461 eknvllnslq kedkspetgt aggsstasys agrglegnan spahlrgpeq tsgqtakdps
     2521 vsirylaavn tgaikaddmp pvqgtvaehs flpaeqqgse dnlktsttkc itgqeskiap
     2581 shtmippaty svallapkce qdltikndys gkwtdqasae ktgddnstrk sfpeegdimv
     2641 tvsseenvcd igneesplnv lgglklkanl kmeayvpsee ekngeilapp eslcggkpsg
     2701 iaelqrepll vneslnvens gfrtneeihs esynkgeiss grkdnaeais ghsveadpke
     2761 veeeerhmpk rkrkqhylss edepddnpdv ldsrietaqr qcpetephdt keensrdlee
     2821 lpktssetns ttsrvmeekd eysssettge kpeqndddti ksqeedqpii ikrkrgrprk
     2881 ypvettlkmn dsktdtgivt veqspssskl kvmqtvsenc nicrkqmhke yesnketanl
     2941 qersisnddg eekivtsvrr rgrkpkrslt vsddaessep erkrqksvsd pvedkkeqes
     3001 deeeeeeeed epsgattrst trseaqrskt qlspsikrkr evsppgartr gqqrveeapv
     3061 kkakr
//
LOCUS       XP_054205880             738 aa            linear   PRI 20-MAR-2023
DEFINITION  amyloid beta precursor protein binding family B member 2 isoform X8
            [Homo sapiens].
ACCESSION   XP_054205880
VERSION     XP_054205880.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349905.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..738
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..738
                     /product="amyloid beta precursor protein binding family B
                     member 2 isoform X8"
                     /calculated_mol_wt=80900
     CDS             1..738
                     /gene="APBB2"
                     /gene_synonym="FE65L; FE65L1"
                     /coded_by="XM_054349905.1:399..2615"
                     /db_xref="GeneID:323"
                     /db_xref="HGNC:HGNC:582"
                     /db_xref="MIM:602710"
ORIGIN      
        1 msevlpadsg vdtlavfmas sgttdvtnrn spatppntln lrsshnelln aeikhtetkn
       61 stppkcrkky altniqaamg lsdpaaqpll gngsaniklv kngenqlrka aeqgqqdpnk
      121 nlsptavini tseklegkep hpqdssscei lpsqprrtks flnyyadlet sareleqnqg
      181 nhhgtaeeks qpvqgqasti igngdlllqk pnrpqssped gqvatvsssp etkkdhpktg
      241 aktdcalhri qnlapsdees swttlsqdsa spsspdetad iwsdhsfqtd pdlppgwkrv
      301 sdiagtyywh iptgttqwer pvsipadlqg srkgslssvt psptpenedl haatvnpdps
      361 lkefegatlr yaslklrnap hpddddscsi nsdpeakcfa vrslgwvema eedlapgkss
      421 vavnncirql syckndirdt vgiwgegkdm ylilendmls lvdpmdrsvl hsqpivsirv
      481 wgvgrdngrd fayvardkdt rilkchvfrc dtpakaiats lheicskima erknakalac
      541 sslqeranvn ldvplqvdfp tpktelvqkf hvqylgmlpv dkpvgmdiln saienlmtss
      601 nkedwlsvnm nvadatvtvi sekneeevlv ecrvrflsfm gvgkdvhtfa fimdtgnqrf
      661 echvfwcepn agnvseavqa acmlryqkcl varppsqkvr pppppadsvt rrvttnvkrg
      721 vlslidtlkq krpvtemp
//
LOCUS       XP_054206106             724 aa            linear   PRI 20-MAR-2023
DEFINITION  kelch-like protein 5 isoform X10 [Homo sapiens].
ACCESSION   XP_054206106
VERSION     XP_054206106.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350131.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..724
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..724
                     /product="kelch-like protein 5 isoform X10"
                     /calculated_mol_wt=81300
     CDS             1..724
                     /gene="KLHL5"
                     /coded_by="XM_054350131.1:92..2266"
                     /db_xref="GeneID:51088"
                     /db_xref="HGNC:HGNC:6356"
                     /db_xref="MIM:608064"
ORIGIN      
        1 msgsrkefdv kqilkirwrw fghqasspns tvdsqqgefw nrgqtgangg rkfldpcslq
       61 lplasigyrr ssqldfqnsp swpmastsev pafeftaedc ggahwldrpe vddgtseeen
      121 esdssscrts nssqtlssch tmepctsdef fqalnhaeqt fkkmenylrh kqlcdvilva
      181 gdrripahrl vlssvsdyfa amftndvrea rqeeikmegv epnslwsliq yaytgrlelk
      241 edniecllst acllqlsqvv eacckflmkq lhpsnclgir sfadaqgctd lhkvahnytm
      301 ehfmevirnq efvllpasei akllasddmn ipneetilna lltwvrhdle qrrkdlskll
      361 ayirlpllap qfladmennv lfrddiecqk limeamkyhl lperrpmlqs prtkprkstv
      421 gtlfavggmd stkgatsiek ydlrtnmwtp vanmngrrlq fgvavlddkl yvvggrdglk
      481 tlntvecynp ktktwsvmpp msthrhglgv avlegpmyav gghdgwsyln tverwdpqar
      541 qwnfvatmst prstvgvavl sgklyavggr dgssclksve cfdphtnkwt lcaqmskrrg
      601 gvgvttwngl lyaigghdap asnltsrlsd cverydpktd mwtavasmsi srdavgvcll
      661 gdklyavggy dgqaylntve aydpqtnewt qvfshtfeds kdhlvaikqt iwrqnslsee
      721 frsh
//
LOCUS       XP_054207247             893 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC domain-containing protein kinase-like protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_054207247
VERSION     XP_054207247.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351272.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..893
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..893
                     /product="TBC domain-containing protein kinase-like
                     protein isoform X1"
                     /calculated_mol_wt=100580
     CDS             1..893
                     /gene="TBCK"
                     /gene_synonym="HSPC302; IHPRF3; TBCKL"
                     /coded_by="XM_054351272.1:4314..6995"
                     /db_xref="GeneID:93627"
                     /db_xref="HGNC:HGNC:28261"
                     /db_xref="MIM:616899"
ORIGIN      
        1 mfplkdaemg aftffasalp hdvcgsnglp ltpnsikilg rfqilktith prlcqyvdis
       61 rgkherlvvv aehcersled llrerkpvsc stvlciafev lqglqymnkh givhralsph
      121 nilldrkghi klakfglyhm tahgddvdfp igypsylape viaqgifktt dhmpskkplp
      181 sgpksdvwsl giilfelcvg rklfqsldis erlkflltld cvddtlivla eehgcldiik
      241 elpetvidll nkcltfhpsk rptpdelmkd kvfsevsply tpftkpaslf ssslrcadlt
      301 lpedisqlck dinndylaer sieevyylwc laggdlekel vnkeiirskp pictlpnflf
      361 edgesfgqgr drssllddtt vtlslcqlrn rlkdvggeaf yplleddqsn lphsnsnnel
      421 saaamlplii rekdteyqln riilfdrllk aypykknqiw kearvdippl mrgltwaall
      481 gvegaihaky daidkdtpip tdrqievdip rchqydells speghakfrr vlkawvvshp
      541 dlvywqglds lcapflylnf nnealayacm safipkylyn fflkdnshvi qeyltvfsqm
      601 iafhdpelsn hlneigfipd lyaipwfltm fthvfplhki fhlwdtlllg nssfpfcigv
      661 ailqqlrdrl langfnecil lfsdlpeidi ercvresinl fcwtpksaty rqhaqppkps
      721 sdssggrssa pyfsaecpdp pktdlsresi plndlksevs prisaedlid lceltvtghf
      781 ktpskktkss kpkllvvdir nsedfirghi sgsinipfsa aftaegeltq gpytamlqnf
      841 kgkvivivgh vakhtaefaa hlvkmkypri cildgginki kptglltips pqi
//
LOCUS       XP_054207430            1085 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 12 member 7 isoform X12 [Homo sapiens].
ACCESSION   XP_054207430
VERSION     XP_054207430.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351455.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1085
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1085
                     /product="solute carrier family 12 member 7 isoform X12"
                     /calculated_mol_wt=119409
     CDS             1..1085
                     /gene="SLC12A7"
                     /gene_synonym="KCC4"
                     /coded_by="XM_054351455.1:184..3441"
                     /db_xref="GeneID:10723"
                     /db_xref="HGNC:HGNC:10915"
                     /db_xref="MIM:604879"
ORIGIN      
        1 mlsrpclfpc lwpltpqgsw slwpgvpggr ptagsplagd gnprenspfl nnveveqesf
       61 fegknmalfe eemdsnpmvs sllnklanyt nlsqgvvehe edeesrrrea kaprmgtfig
      121 vylpclqnil gvilflrltw ivgvagvles flivamcctc tmltaismsa iatngvvpag
      181 gsyymisrsl gpefggavgl cfylgttfag amyilgtiei fltyispgaa ifqaeaagge
      241 aaamlhnmrv ygtctlvlma lvvfvgvkyv nklalvflac vvlsilaiya gviksafdpp
      301 dipvcllgnr tlsrrsfdac vkaygihnns atsalwglfc ngsqpsaacd eyfiqnnvte
      361 iqgipgaasg vflenlwsty ahagafvekk gvpsvpvaee srastlpyvl tdiaasftll
      421 vgiyfpsvtg imagsnrsgd lkdaqksipt gtilaivtts fiylscivlf gaciegvvlr
      481 dkfgealqgn lvigmlawps pwvivigsff stcgaglqsl tgaprllqai ardgivpflq
      541 vfghgkange ptwallltvl icetgilias ldsvapilsm fflmcylfvn lacavqtllr
      601 tpnwrprfkf yhwtlsflgm slclalmfic swyyalsaml iagciykyie yrgaekewgd
      661 girglslnaa ryallrvehg pphtknwrpq vlvmlnldae qavkhprlls ftsqlkagkg
      721 ltivgsvleg tyldkhmeaq raeenirslm stektkgfcq lvvssslrdg mshliqsagl
      781 gglkhntvlm awpaswkqed npfswknfvd tvrdttaahq allvaknvds fpqnqerfgg
      841 ghidvwwivh dggmlmllpf llrqhkvwrk crmriftvaq vddnsiqmkk dlqmflyhlr
      901 isaevevvem vendisafty ertlmmeqrs qmlkqmqlsk neqereaqli hdrntashta
      961 aaartqappt pdkvqmtwtr ekliaekyrs rdtslsgfkd lfsmkpewgn ldqsnvrrmh
     1021 tavklngvvl nksqdaqlvl lnmpgppknr qgdenymefl evlteglnrv llvrgggrev
     1081 itiys
//
LOCUS       XP_054207952             474 aa            linear   PRI 20-MAR-2023
DEFINITION  ran-binding protein 3-like isoform X3 [Homo sapiens].
ACCESSION   XP_054207952
VERSION     XP_054207952.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351977.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..474
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..474
                     /product="ran-binding protein 3-like isoform X3"
                     /calculated_mol_wt=53096
     CDS             1..474
                     /gene="RANBP3L"
                     /coded_by="XM_054351977.1:487..1911"
                     /db_xref="GeneID:202151"
                     /db_xref="HGNC:HGNC:26353"
                     /db_xref="MIM:616391"
ORIGIN      
        1 mttiprkgss hlpgslhtck lklqedrrqq eksviaqpif vfekgeqtfk rpaedtlyea
       61 aepdsqsqgv rknnvfmtsa lvqssvdiks aeqgpvkhsk hvirpailql pqarscakvr
      121 ktfghkales cktkektnnk isegnsylls enlsrarisv qlstnqdflg atsvgcqpne
      181 dkcsfkscss nfvfgenmve rvlgtqkltq pqlendsyak ekpfksipkf pvnflssrtd
      241 sikntslies aaafssqpsr kcllekidvi tgeetehnvl kincklfifn kttqswierg
      301 rgtlrlndta stdcgtlqsr limrnqgslr lilnsklwaq mkiqranhkn vritatdled
      361 ysikifliqa saqdtaylya aihhrlvalq sfnkqrdvnq aeslsetaqq lncescdene
      421 ddfiqvtkng setpheshkk islstyspis ffnsvlshhg fevtlivtpk qfsd
//
LOCUS       XP_054209142             792 aa            linear   PRI 20-MAR-2023
DEFINITION  ran-binding protein 17 isoform X10 [Homo sapiens].
ACCESSION   XP_054209142
VERSION     XP_054209142.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353167.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..792
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..792
                     /product="ran-binding protein 17 isoform X10"
                     /calculated_mol_wt=91073
     CDS             1..792
                     /gene="RANBP17"
                     /coded_by="XM_054353167.1:106..2484"
                     /db_xref="GeneID:64901"
                     /db_xref="HGNC:HGNC:14428"
                     /db_xref="MIM:606141"
ORIGIN      
        1 mnlqmifarc rfqqlgeqgl sdpgnyhefc rflarlktny qlgelvmvke ypevirlian
       61 ftitslqhwe fapnsvhyll tlwqrmvasv pfvkstephl ldtyapeitk afitsrldsv
      121 aivvrdhldd plddtatvfq qleqlctvsr ceyektcall vqlfdqnaqn yqkllhpysg
      181 vtvditiqeg rlawlvylvg tvvggrltyt stdehdamdg elscrvfqli slmdtglprc
      241 cnekielail wfldqfrkty vgdqlqrtsk vyarmsevlg itddnhvlet fmtkivtnlk
      301 ywgryepvis rtlqflndls vgyillkklv kidavkfmlk nhtsehfpfl gisdnhslsd
      361 frcrttfyta ltrllmvdlg ededefenfm lpltvafetv lqifnnnfkq edvkrmligl
      421 ardlrgiafa lntktsytml fdwmlykryp tylpllqnav erwygeptct tpilklmael
      481 mqnrsqrlnf dvsspngill freaskmvct ygnqilslgs lskdqiypmk lkgisicysa
      541 lksalcgnyv sfgvfklygd nhfdnvlqaf vkmllsvshs dllqyrklsq syyplleclt
      601 qdhmsfiinl eppvlmyvlt siseglttld tvvsssccts ldyivtylfk hiakegkkpl
      661 rcreatqagq rllhfmqqnp dvlqqmmsvl mntivfedcr nqwsvsrpll glillnekyf
      721 selraslins qplpkqevla qcfrnlmegv eqnlsvknrd rftqnlsvfr rdvaealrsd
      781 gntepcsldm ms
//
LOCUS       XP_054209334            1427 aa            linear   PRI 20-MAR-2023
DEFINITION  treacle protein isoform X20 [Homo sapiens].
ACCESSION   XP_054209334
VERSION     XP_054209334.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353359.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1427
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1427
                     /product="treacle protein isoform X20"
                     /calculated_mol_wt=146059
     CDS             1..1427
                     /gene="TCOF1"
                     /gene_synonym="MFD1; TCS; TCS1; treacle"
                     /coded_by="XM_054353359.1:51..4334"
                     /db_xref="GeneID:6949"
                     /db_xref="HGNC:HGNC:11654"
                     /db_xref="MIM:606847"
ORIGIN      
        1 maearkrrel lpliyhhllr agyvraarev keqsgqkcfl aqpvtlldiy thwqqtselg
       61 rkrkaeedaa lqakktrvsd pistsessee eeeaeaetak atprlastns svlgadlpss
      121 mkekakaete kagktgnsmp hpatgktvan llsgksprks aepsanttlv seteeegsvp
      181 afgaaakpgm vsagqadsss edtssssdet dvegkpsvkp aqvkassvst kesparkaap
      241 apgkvgdvtp qvkggalppa krakkpeees esseegsese eeapagtrsq vkasekilqv
      301 raasapakgt pgkgatpapp gkagavasqt kagkpeedse ssseessdse eetpaakall
      361 qakasgktsq vgaasapake sprkgaapap pgktgpavak aqagkreeds qssseesdse
      421 eeapaqakps gkapqvraas apakesprkg aapapprktg paaaqvqvgk qeedsrssse
      481 esdsdreala amnaaqvkpl gkspqvkpas tmgmgplgkg agpvppgkvg patpsaqvgk
      541 weedsessse essdssdgev ptavapaqek slgnilqakp tsspakgppq kagpvavqvk
      601 aekpmdnses seessdsads eeapaamtaa qakpalkipq tkacpkktnt tasakvapvr
      661 vgtqaprkag tatspagssp avaggtqrpa edsssseesd seeektglav tvgqaksvgk
      721 glqvkaasvp vkgslgqgta pvlpgktgpt vtqvkaekqe dsesseeesd seeaaaspaq
      781 vktsvkktqa kanpaaarap sakgtisapg kvvtaaaqak qrspskvkps gkthqiraal
      841 apakesprkg aaptppgktg psaaqagkqd dsgssseesd sdgeapaavt saqkdsnskp
      901 arsktlapap perntegsse sseeelpltq vikpplifvd pnrspagpaa tpaqaqaast
      961 prkarasest arssssesed edvipatqcl tpgirtnvvt mptahpriap kasmagasss
     1021 kessrisdgk kqegpatqvd savgtlpats pqstsvqakg tnklrkpklp evqqatkape
     1081 ssddsedssd sssgseedge gpqgaksaht lgptrsrtet lveetaaess eddvvapsqs
     1141 llsgymtpgl tpansqaska tpkldsspsv sstlaakddp dgkqeakpqq aagmlspktg
     1201 gkeaasgttp qksrkpkkga gnpqastlal qsnitqcllg qpwplneaqv qasvvkvlte
     1261 lleqerkkvv dttkessrkg wesrkrklsg dqpaartprs kkkkklgage ggeasvspek
     1321 tsttskgkak rdkasgdvke kkgkgslgsq gakdepeeel qkgmgtvegg dqsnpkskke
     1381 kkksdkrkkd kekkekkkka kkastkdses psqkkkkkkk ktaeqtv
//
LOCUS       XP_054210072             491 aa            linear   PRI 20-MAR-2023
DEFINITION  katanin p60 ATPase-containing subunit A1 isoform X1 [Homo sapiens].
ACCESSION   XP_054210072
VERSION     XP_054210072.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354097.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..491
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..491
                     /product="katanin p60 ATPase-containing subunit A1 isoform
                     X1"
                     /calculated_mol_wt=55834
     CDS             1..491
                     /gene="KATNA1"
                     /coded_by="XM_054354097.1:383..1858"
                     /db_xref="GeneID:11104"
                     /db_xref="HGNC:HGNC:6216"
                     /db_xref="MIM:606696"
ORIGIN      
        1 msllmisenv klareyallg nydsamvyyq gvldqmnkyl ysvkdtylqq kwqqvwqein
       61 veakhvkdim ktlesfklds tplkaaqhdl pasegevwsm pvpverrpsp gprkrqssqy
      121 sdpkshgnrp sttvrvhrss aqnvhndrgk avrcrekkeq nkgreeknks paavtepetn
      181 kfdstgydkd lvealerdii sqnpnvrwdd iadlveakkl lkeavvlpmw mpeffkgirr
      241 pwkgvlmvgp pgtgktllak avateckttf fnvssstlts kyrgeseklv rllfemarfy
      301 spatifidei dsicsrrgts eeheasrrvk aellvqmdgv ggtsenddps kmvmvlaatn
      361 fpwdidealr rrlekriyip lpsakgreel lrislrelel addvdlasia enmegysgad
      421 itnvcrdasl mamrrriegl tpeeirnlsk eemhmpttme dfemalkkvs ksvsaadier
      481 yekwifefgs c
//
LOCUS       XP_054212839            1660 aa            linear   PRI 20-MAR-2023
DEFINITION  A-kinase anchor protein 12 isoform X2 [Homo sapiens].
ACCESSION   XP_054212839
VERSION     XP_054212839.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356864.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1660
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1660
                     /product="A-kinase anchor protein 12 isoform X2"
                     /calculated_mol_wt=178884
     CDS             1..1660
                     /gene="AKAP12"
                     /gene_synonym="AKAP250; SSeCKS"
                     /coded_by="XM_054356864.1:185..5167"
                     /db_xref="GeneID:9590"
                     /db_xref="HGNC:HGNC:370"
                     /db_xref="MIM:604698"
ORIGIN      
        1 matksavvhd itddgqeetp eiieqipsse snleeltqpt esqandigfk kvfkfvgfkf
       61 tvkkdktekp dtvqlltvkk degegaagag dhqdpslgag eaaskesepk qstekpeetl
      121 kreqshaeis ppaesgqave eckeegeekq ekepsksaes ptspvtsetg stfkkfftqg
      181 wagwrkktsf rkpkedevea sekkkeqepe kvdteedgka evasekltas eqahpqepae
      241 saheprlsae yekvelpsee qvsgsqgpse ekpaplatev fdekievhqe evvaevhvst
      301 veerteeqkt eveetagsvp aeelvemdae pqeaepakel vklketcvsg edptqgadls
      361 pdekvlskpp egvvseveml ssqermkvqg splkklftst glkklsgkkq kgkrgggdee
      421 sgehtqvpad spdsqeeqkg essasspeep eeitclekgl aevqqdgeae egatsdgekk
      481 regvtpwasf kkmvtpkkrv rrpsesdked eldkvksatl sstestasem qeemkgsvee
      541 pkpeepkrkv dtsvsweali cvgsskkrar rgsssdeegg pkamggdhqk adeagkdket
      601 gtdgilagsq ehdpgqgsss peqagspteg egvstwesfk rlvtprkksk skleekseds
      661 iagsgvehst pdtepgkees wvsikkfipg rrkkrpdgkq eqapvedagp tganeddsdv
      721 pavvplseyd averekmeaq qaqksaeqpe qkaatevske lsesqvhmma aavadgtraa
      781 tiieerspsw isasvtgple qveaeaallt eevlerevia eeepptvtep lpenreargd
      841 tvvseaeltp eavtaaetag plgaeegtea saaeettemv savsqltdsp dtteeatpvq
      901 eveggvpdie eqerrtqevl qavaekvkee sqlpgtggpe dvlqpvqrae aerpeeqaea
      961 sglkketdvv lkvdaqeakt epftqgkvvg qttpesfeka pqvtesiess elvttcqaet
     1021 lagvksqemv meqaippdsv etptdsetdg stpvadfdap gttqkdeive iheenevasg
     1081 tqsggteaea vpaqkerppa pssfvfqeet keqskmedtl ehtdkevsve tvsilskteg
     1141 tqeadqyade ktkdvpffeg legsidtgit vsrekvteva lkgegteeae ckkddalelq
     1201 shaksppspv eremvvqver ekteaepthv nkekleheta vtvseevskq llqtvnvpii
     1261 dgakevssle gspppclgqe eavctkiqvq sseasftlta aaeeekvlge taniletget
     1321 lepagahlvl eekssekned faahpgedav ptgpdcqaks tpvivsattk kglssdlege
     1381 kttslkwksd evdeqvacqe vkvsvaieed lepengilel etkssklvqn iiqtavdqfv
     1441 rteetateml tselqtqahm ikadsqdagq etekegeepq asaqdetpit sakeesesta
     1501 vgqahsdisk dmseasektm tvevegstvn dqqleevvlp seeegggagt ksvpeddgha
     1561 llaerieksl vepkedekgd dvddpenqns aladtdasgg ltkespdtng pkqkekedaq
     1621 evelqegkvh sesdkaitpq aqeelqkqer esakseltes
//
LOCUS       XP_054214382             432 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart
            isoform isoform X1 [Homo sapiens].
ACCESSION   XP_054214382
VERSION     XP_054214382.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358407.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..432
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..432
                     /product="phosphorylase b kinase gamma catalytic chain,
                     skeletal muscle/heart isoform isoform X1"
                     /calculated_mol_wt=49681
     CDS             1..432
                     /gene="PHKG1"
                     /gene_synonym="PHKG"
                     /coded_by="XM_054358407.1:152..1450"
                     /db_xref="GeneID:5260"
                     /db_xref="HGNC:HGNC:8930"
                     /db_xref="MIM:172470"
ORIGIN      
        1 mtrdealpds hsaqdfyeny epkeilgrgv ssvvrrcihk ptsqeyavkv idvtgggsfs
       61 peevrelrea tlkevdilrk vsghpniiql kdtyetntff flvfdlmkrg elfdyltekv
      121 tlseketrki mrallevict lhklnivhrd lkpenilldd nmnikltdfg fscqlepger
      181 lrvetgfhhv gqaglelltl rsarlglpkc cdyrreppcp aglgissevc gtpsylapei
      241 iecsmnedhp gygkevdmws tgvimytlla gsppfwhrkq mlmlrmimsg nyqfgspewd
      301 dysdtvkdlv srflvvqpqn rytaeealah pffqqylvee vrhfsprgkf kvialtvlas
      361 vriyyqyrrv kpvtreivir dpyalrplrr lidayafriy ghwvkkgqqq nraalfentp
      421 kavllslaee dy
//
LOCUS       XP_054216093             764 aa            linear   PRI 20-MAR-2023
DEFINITION  fibroblast growth factor receptor 1 isoform X17 [Homo sapiens].
ACCESSION   XP_054216093
VERSION     XP_054216093.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360118.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..764
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..764
                     /product="fibroblast growth factor receptor 1 isoform X17"
                     /calculated_mol_wt=85595
     CDS             1..764
                     /gene="FGFR1"
                     /gene_synonym="bFGF-R-1; BFGFR; CD331; CEK; ECCL; FGFBR;
                     FGFR-1; FLG; FLT-2; FLT2; HBGFR; HH2; HRTFDS; KAL2; N-SAM;
                     OGD"
                     /coded_by="XM_054360118.1:150..2444"
                     /db_xref="GeneID:2260"
                     /db_xref="HGNC:HGNC:3688"
                     /db_xref="MIM:136350"
ORIGIN      
        1 mearvslkrr ieltveypwr cgalsptsnc rtgmwswkcl lfwavlvtat lctarpsptl
       61 peqdalpsse dddddddsss eeketdntkp nrmpvapywt spekmekklh avpaaktvkf
      121 kcpssgtpnp tlrwlkngke fkpdhriggy kvryatwsii mdsvvpsdkg nytciveney
      181 gsinhtyqld vversphrpi lqaglpankt valgsnvefm ckvysdpqph iqwlkhievn
      241 gskigpdnlp yvqilktagv nttdkemevl hlrnvsfeda geytclagns iglshhsawl
      301 tvlealeerp avmtsplyle iiiyctgafl iscmvgsviv ykmksgtkks dfhsqmavhk
      361 laksiplrrq vsadssasmn sgvllvrpsr lsssgtpmla gvseyelped prwelprdrl
      421 vlgkplgegc fgqvvlaeai gldkdkpnrv tkvavkmlks datekdlsdl isememmkmi
      481 gkhkniinll gactqdgply viveyaskgn lreylqarrp pgleycynps hnpeeqlssk
      541 dlvscayqva rgmeylaskk cihrdlaarn vlvtednvmk iadfglardi hhidyykktt
      601 ngrlpvkwma pealfdriyt hqsdvwsfgv llweiftlgg spypgvpvee lfkllkeghr
      661 mdkpsnctne lymmmrdcwh avpsqrptfk qlvedldriv altsnqeyld lsmpldqysp
      721 sfpdtrsstc ssgedsvfsh eplpeepclp rhpaqlangg lkrr
//
LOCUS       XP_054182882             248 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM133A isoform X1 [Homo sapiens].
ACCESSION   XP_054182882
VERSION     XP_054182882.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326907.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..248
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..248
                     /product="protein FAM133A isoform X1"
                     /calculated_mol_wt=28809
     CDS             1..248
                     /gene="FAM133A"
                     /gene_synonym="CT115"
                     /coded_by="XM_054326907.1:357..1103"
                     /db_xref="GeneID:286499"
                     /db_xref="HGNC:HGNC:26748"
ORIGIN      
        1 mgkrdnrvay mnpiamarwr gptqsvgpti qdylnrprpt weevkkqlen kktgskalae
       61 feekmnenwk keleksrekl lsgnessskk rerkkkrkkk scrsssssss sdssssssds
      121 edeekkqgkr rkkkknrsyk ssqssthese seskesvkkk kkskdeteke kdvrslskkr
      181 kksypddkpl ssesssesdy eedvqakkkr rceereqake kvkkkkkkqh kkhskkkkkk
      241 sgsshksr
//
LOCUS       NP_001381065            1166 aa            linear   PRI 21-MAR-2023
DEFINITION  nonsense-mediated mRNA decay factor SMG7 isoform 12 [Homo sapiens].
ACCESSION   NP_001381065
VERSION     NP_001381065.1
DBSOURCE    REFSEQ: accession NM_001394136.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1166)
  AUTHORS   Song X, Ru M, Steinsnyder Z, Tkachuk K, Kopp RP, Sullivan J, Gumus
            ZH, Offit K, Joseph V and Klein RJ.
  TITLE     SNPs at SMG7 Associated with Time from Biochemical Recurrence to
            Prostate Cancer Death
  JOURNAL   Cancer Epidemiol Biomarkers Prev 31 (7), 1466-1472 (2022)
   PUBMED   35511739
  REMARK    GeneRIF: SNPs at SMG7 Associated with Time from Biochemical
            Recurrence to Prostate Cancer Death.
REFERENCE   2  (residues 1 to 1166)
  AUTHORS   Boehm V, Kueckelmann S, Gerbracht JV, Kallabis S, Britto-Borges T,
            Altmuller J, Kruger M, Dieterich C and Gehring NH.
  TITLE     SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6
            endonucleolytic activity
  JOURNAL   Nat Commun 12 (1), 3965 (2021)
   PUBMED   34172724
  REMARK    GeneRIF: SMG5-SMG7 authorize nonsense-mediated mRNA decay by
            enabling SMG6 endonucleolytic activity.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1166)
  AUTHORS   Ho K, Luo H, Zhu W and Tang Y.
  TITLE     Critical role of SMG7 in activation of the ATR-CHK1 axis in
            response to genotoxic stress
  JOURNAL   Sci Rep 11 (1), 7502 (2021)
   PUBMED   33820915
  REMARK    GeneRIF: Critical role of SMG7 in activation of the ATR-CHK1 axis
            in response to genotoxic stress.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1166)
  AUTHORS   Yang L, Kraft VAN, Pfeiffer S, Merl-Pham J, Bao X, An Y, Hauck SM
            and Schick JA.
  TITLE     Nonsense-mediated decay factor SMG7 sensitizes cells to
            TNFalpha-induced apoptosis via CYLD tumor suppressor and the
            noncoding oncogene Pvt1
  JOURNAL   Mol Oncol 14 (10), 2420-2435 (2020)
   PUBMED   32602581
  REMARK    GeneRIF: Nonsense-mediated decay factor SMG7 sensitizes cells to
            TNFalpha-induced apoptosis via CYLD tumor suppressor and the
            noncoding oncogene Pvt1.
REFERENCE   5  (residues 1 to 1166)
  AUTHORS   Cowen LE, Luo H and Tang Y.
  TITLE     Characterization of SMG7 14-3-3-like domain reveals phosphoserine
            binding-independent regulation of p53 and UPF1
  JOURNAL   Sci Rep 9 (1), 13097 (2019)
   PUBMED   31511540
  REMARK    GeneRIF: Characterization of SMG7 14-3-3-like domain reveals
            phosphoserine binding-independent regulation of p53 and UPF1.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1166)
  AUTHORS   Unterholzner L and Izaurralde E.
  TITLE     SMG7 acts as a molecular link between mRNA surveillance and mRNA
            decay
  JOURNAL   Mol Cell 16 (4), 587-596 (2004)
   PUBMED   15546618
REFERENCE   7  (residues 1 to 1166)
  AUTHORS   Ohnishi T, Yamashita A, Kashima I, Schell T, Anders KR, Grimson A,
            Hachiya T, Hentze MW, Anderson P and Ohno S.
  TITLE     Phosphorylation of hUPF1 induces formation of mRNA surveillance
            complexes containing hSMG-5 and hSMG-7
  JOURNAL   Mol Cell 12 (5), 1187-1200 (2003)
   PUBMED   14636577
  REMARK    GeneRIF: Data show that phosphorylated hUPF1, the human ortholog of
            UPF1/SMG-2, forms a complex with human orthologs of the
            Caenorhabditis elegans proteins SMG-5 and SMG-7.
REFERENCE   8  (residues 1 to 1166)
  AUTHORS   Snow BE, Erdmann N, Cruickshank J, Goldman H, Gill RM, Robinson MO
            and Harrington L.
  TITLE     Functional conservation of the telomerase protein Est1p in humans
  JOURNAL   Curr Biol 13 (8), 698-704 (2003)
   PUBMED   12699629
REFERENCE   9  (residues 1 to 1166)
  AUTHORS   Reichenbach P, Hoss M, Azzalin CM, Nabholz M, Bucher P and Lingner
            J.
  TITLE     A human homolog of yeast Est1 associates with telomerase and uncaps
            chromosome ends when overexpressed
  JOURNAL   Curr Biol 13 (7), 568-574 (2003)
   PUBMED   12676087
REFERENCE   10 (residues 1 to 1166)
  AUTHORS   Sood R, Bonner TI, Makalowska I, Stephan DA, Robbins CM, Connors
            TD, Morgenbesser SD, Su K, Faruque MU, Pinkett H, Graham C,
            Baxevanis AD, Klinger KW, Landes GM, Trent JM and Carpten JD.
  TITLE     Cloning and characterization of 13 novel transcripts and the human
            RGS8 gene from the 1q25 region encompassing the hereditary prostate
            cancer (HPC1) locus
  JOURNAL   Genomics 73 (2), 211-222 (2001)
   PUBMED   11318611
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL449223.7 and AL137800.12.
            
            Summary: This gene encodes a protein that is essential for
            nonsense-mediated mRNA decay (NMD); a process whereby transcripts
            with premature termination codons are targeted for rapid
            degradation by a mRNA decay complex. The mRNA decay complex
            consists, in part, of this protein along with proteins SMG5 and
            UPF1. The N-terminal domain of this protein is thought to mediate
            its association with SMG5 or UPF1 while the C-terminal domain
            interacts with the mRNA decay complex. This protein may therefore
            couple changes in UPF1 phosphorylation state to the degradation of
            NMD-candidate transcripts. Alternative splicing results in multiple
            transcript variants encoding distinct isoforms. [provided by
            RefSeq, Aug 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1166
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.3"
     Protein         1..1166
                     /product="nonsense-mediated mRNA decay factor SMG7 isoform
                     12"
                     /EC_number="2.7.11.1"
                     /note="ever shorter telomeres 1C; EST1 telomerase
                     component homolog C; breast cancer-associated antigen
                     SGA-56M; EST1-like protein C; smg-7 homolog, nonsense
                     mediated mRNA decay factor; nonsense-mediated mRNA decay
                     factor SMG7"
                     /calculated_mol_wt=130636
     Region          84..196
                     /region_name="EST1"
                     /note="Telomerase activating protein Est1; pfam10374"
                     /db_xref="CDD:431240"
     Region          183..209
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(185..186,189..190,192,216,219..220,223..224,
                     226..227,250,253..254,257..258,261)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          200..460
                     /region_name="EST1_DNA_bind"
                     /note="Est1 DNA/RNA binding domain; pfam10373"
                     /db_xref="CDD:431239"
     Region          214..244
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          <715..890
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     CDS             1..1166
                     /gene="SMG7"
                     /gene_synonym="C1orf16; EST1C; SGA56M"
                     /coded_by="NM_001394136.1:312..3812"
                     /note="isoform 12 is encoded by transcript variant 16"
                     /db_xref="GeneID:9887"
                     /db_xref="HGNC:HGNC:16792"
                     /db_xref="MIM:610964"
ORIGIN      
        1 mrnwmflqiv ivgenvsfks qmrtenlkse ehlkssnirq aevlkadmtd sklgpaevwt
       61 srqalqdlyq kmlvtdleya ldkkveqdlw nhafknqitt lqgqaknran pnrsevqanl
      121 slfleaasgf ytqllqelct vfnvdlpcrv kssqlgiisn kqthtsaivk pqssscsyic
      181 qhclvhlgdi aryrnqtsqa esyyrhaaql vpsngqpynq lailasskgd hlttifyycr
      241 siavkfpfpa astnlqkals kalesrdevk tkwgvsdfik afikfhghvy lsksleklsp
      301 lrekleeqfk rllfqkafns qqlvhvtvin lfqlhhlrdf sneteqhtys qdeqlcwtql
      361 lalfmsflgi lckcplqnes qeesynaypl pavkvsmdwl rlrprvfqea vvderqyiwp
      421 wlisllnsfh pheedlssis atplpeefel qgflalrpsf rnldfskghq gitgdkegqq
      481 rrirqqrlis igkwiadnqp rliqcenevg kllfiteipe liledpseak enlilqetsv
      541 ieslaadgsp glksvlstsr nlsnncdtge kpvvtfkeni ktrevnrdqg rsfppkevrr
      601 dyskgitvtk ndgkkdnnkr ktetkkctle klqetgkqnv avqvksqtel rktpvseark
      661 tpvtqtptqa snsqfipihh pgafpplpsr pgfppptyvi pppvafsmgs gytfpagvsv
      721 pgtflqptah spagnqvqag kqshipysqq rpsgpgpmnq gpqqsqppsq qpltslpaqp
      781 taqstsqlqv qaltqqqqsp tkavpalgks pphhsgfqqy qqadaskqlw nppqvqgplg
      841 kimpvkqpyy lqtqdpiklf epslqppvmq qqplekkmkp fpmepynhnp sevkvpefyw
      901 dssysmadnr svmaqqanid rrgkrspgvf rpeqdpvprm pfeksllekp selmshsssf
      961 lsltgfslnq erypnnsmfn evygknltss skaelspsma pqetslyslf egtpwspslp
     1021 assdhstpas qsphssnpss lpssppthnh nsvpfsnfgp igtpdnrdrr tadrwktdkp
     1081 amggfgidyl satsssessw hqastpsgtw tghgpsmeds savlmeslks iwsssmmhpg
     1141 psaleqllmq qkqkqqrgqg tmnpph
//
LOCUS       NP_705935                248 aa            linear   PRI 22-MAR-2023
DEFINITION  tropomyosin alpha-3 chain isoform Tpm3.1cy [Homo sapiens].
ACCESSION   NP_705935
VERSION     NP_705935.1
DBSOURCE    REFSEQ: accession NM_153649.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 248)
  AUTHORS   Geeves MA, Hitchcock-DeGregori SE and Gunning PW.
  TITLE     A systematic nomenclature for mammalian tropomyosin isoforms
  JOURNAL   J Muscle Res Cell Motil 36 (2), 147-153 (2015)
   PUBMED   25369766
  REMARK    Review article
REFERENCE   2  (residues 1 to 248)
  AUTHORS   Takeuchi K, Soda M, Togashi Y, Suzuki R, Sakata S, Hatano S, Asaka
            R, Hamanaka W, Ninomiya H, Uehara H, Lim Choi Y, Satoh Y, Okumura
            S, Nakagawa K, Mano H and Ishikawa Y.
  TITLE     RET, ROS1 and ALK fusions in lung cancer
  JOURNAL   Nat Med 18 (3), 378-381 (2012)
   PUBMED   22327623
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 248)
  AUTHORS   Gunning PW, Schevzov G, Kee AJ and Hardeman EC.
  TITLE     Tropomyosin isoforms: divining rods for actin cytoskeleton function
  JOURNAL   Trends Cell Biol 15 (6), 333-341 (2005)
   PUBMED   15953552
  REMARK    Review article
REFERENCE   4  (residues 1 to 248)
  AUTHORS   Lin JL, Geng X, Bhattacharya SD, Yu JR, Reiter RS, Sastri B,
            Glazier KD, Mirza ZK, Wang KK, Amenta PS, Das KM and Lin JJ.
  TITLE     Isolation and sequencing of a novel tropomyosin isoform
            preferentially associated with colon cancer
  JOURNAL   Gastroenterology 123 (1), 152-162 (2002)
   PUBMED   12105844
  REMARK    GeneRIF: cloned and sequenced a novel nonmuscle tropomyosin (hTM)
            isoform, TC22, which is strongly associated with colonic neoplasia
            and carcinoma
REFERENCE   5  (residues 1 to 248)
  AUTHORS   Lamant L, Dastugue N, Pulford K, Delsol G and Mariame B.
  TITLE     A new fusion gene TPM3-ALK in anaplastic large cell lymphoma
            created by a (1;2)(q25;p23) translocation
  JOURNAL   Blood 93 (9), 3088-3095 (1999)
   PUBMED   10216106
REFERENCE   6  (residues 1 to 248)
  AUTHORS   Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C,
            Blumbergs P, White S, Watkins H, Love DR et al.
  TITLE     A mutation in the alpha tropomyosin gene TPM3 associated with
            autosomal dominant nemaline myopathy
  JOURNAL   Nat Genet 9 (1), 75-79 (1995)
   PUBMED   7704029
  REMARK    Erratum:[Nat Genet. 1995 Jun;10(2):249. PMID: 7663526]
REFERENCE   7  (residues 1 to 248)
  AUTHORS   Wilton SD, Eyre H, Akkari PA, Watkins HC, MacRae C, Laing NG and
            Callen DC.
  TITLE     Assignment of the human a-tropomyosin gene TPM3 to 1q22-->q23 by
            fluorescence in situ hybridisation
  JOURNAL   Cytogenet Cell Genet 68 (1-2), 122-124 (1995)
   PUBMED   7956350
REFERENCE   8  (residues 1 to 248)
  AUTHORS   North,K.N. and Ryan,M.M.
  TITLE     Nemaline Myopathy - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301465
REFERENCE   9  (residues 1 to 248)
  AUTHORS   DeChene,E.T., Kang,P.B. and Beggs,A.H.
  TITLE     Congenital Fiber-Type Disproportion - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301436
REFERENCE   10 (residues 1 to 248)
  AUTHORS   Clayton L, Reinach FC, Chumbley GM and MacLeod AR.
  TITLE     Organization of the hTMnm gene. Implications for the evolution of
            muscle and non-muscle tropomyosins
  JOURNAL   J Mol Biol 201 (3), 507-515 (1988)
   PUBMED   3418707
REFERENCE   11 (residues 1 to 248)
  AUTHORS   MacLeod,A.R., Houlker,C., Reinach,F.C. and Talbot,K.
  TITLE     The mRNA and RNA-copy pseudogenes encoding TM30nm, a human
            cytoskeletal tropomyosin
  JOURNAL   Nucleic Acids Res 14 (21), 8413-8426 (1986)
   PUBMED   3024106
REFERENCE   12 (residues 1 to 248)
  AUTHORS   Martin-Zanca,D., Hughes,S.H. and Barbacid,M.
  TITLE     A human oncogene formed by the fusion of truncated tropomyosin and
            protein tyrosine kinase sequences
  JOURNAL   Nature 319 (6056), 743-748 (1986)
   PUBMED   2869410
REFERENCE   13 (residues 1 to 248)
  AUTHORS   MacLeod,A.R., Houlker,C., Reinach,F.C., Smillie,L.B., Talbot,K.,
            Modi,G. and Walsh,F.S.
  TITLE     A muscle-type tropomyosin in human fibroblasts: evidence for
            expression by an alternative RNA splicing mechanism
  JOURNAL   Proc Natl Acad Sci U S A 82 (23), 7835-7839 (1985)
   PUBMED   3865200
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA472065.1, BC000771.2,
            AL590431.11 and AA863064.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the tropomyosin family of
            actin-binding proteins. Tropomyosins are dimers of coiled-coil
            proteins that provide stability to actin filaments and regulate
            access of other actin-binding proteins. Mutations in this gene
            result in autosomal dominant nemaline myopathy and other muscle
            disorders. This locus is involved in translocations with other
            loci, including anaplastic lymphoma receptor tyrosine kinase (ALK)
            and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which
            result in the formation of fusion proteins that act as oncogenes.
            There are numerous pseudogenes for this gene on different
            chromosomes. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, May 2013].
            
            Transcript Variant: This variant (Tpm3.1, also known as variant 2)
            encodes isoform Tpm3.1cy (also known as Tm5NM1, TM-5, isoform 2, or
            TM30nm).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.273954.1,
                                           SRR1803615.101714.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..248
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..248
                     /product="tropomyosin alpha-3 chain isoform Tpm3.1cy"
                     /note="heat-stable cytoskeletal protein 30 kDa;
                     cytoskeletal tropomyosin TM30; tropomyosin alpha-3 chain;
                     tropomyosin gamma; tropomyosin-5; alpha-tropomyosin, slow
                     skeletal; epididymis secretory sperm binding protein Li
                     82p; epididymis luminal protein 189; tropomyosin 3 nu"
                     /calculated_mol_wt=28902
     Region          12..246
                     /region_name="Tropomyosin"
                     /note="pfam00261"
                     /db_xref="CDD:425563"
     CDS             1..248
                     /gene="TPM3"
                     /gene_synonym="CAPM1; CFTD; CMYP4A; CMYP4B; HEL-189;
                     HEL-S-82p; hscp30; NEM1; OK/SW-cl.5; TM-5; TM3; TM30;
                     TM30nm; TM5; TPM3nu; TPMsk3; TRK"
                     /coded_by="NM_153649.4:100..846"
                     /note="isoform Tpm3.1cy is encoded by transcript variant
                     Tpm3.1"
                     /db_xref="CCDS:CCDS1060.1"
                     /db_xref="GeneID:7170"
                     /db_xref="HGNC:HGNC:12012"
                     /db_xref="MIM:191030"
ORIGIN      
        1 magittieav krkiqvlqqq addaeeraer lqrevegerr areqaeaeva slnrriqlve
       61 eeldraqerl atalqkleea ekaadeserg mkvienralk deekmelqei qlkeakhiae
      121 eadrkyeeva rklviiegdl erteeraela esrcremdeq irlmdqnlkc lsaaeekysq
      181 kedkyeeeik iltdklkeae traefaersv aklektiddl edklkctkee hlctqrmldq
      241 tlldlnem
//
LOCUS       NP_001393799             821 aa            linear   PRI 24-MAR-2023
DEFINITION  mismatch repair endonuclease PMS2 isoform n [Homo sapiens].
ACCESSION   NP_001393799
VERSION     NP_001393799.1
DBSOURCE    REFSEQ: accession NM_001406870.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 821)
  AUTHORS   Bryant P, Walton Bernstedt S, Thutkawkorapin J, Backman AS,
            Lindblom A and Lagerstedt-Robinson K.
  TITLE     Exome sequencing in a Swedish family with PMS2 mutation with
            varying penetrance of colorectal cancer: investigating the presence
            of genetic risk modifiers in colorectal cancer risk
  JOURNAL   Eur J Cancer Prev 32 (2), 113-118 (2023)
   PUBMED   36134613
  REMARK    GeneRIF: Exome sequencing in a Swedish family with PMS2 mutation
            with varying penetrance of colorectal cancer: investigating the
            presence of genetic risk modifiers in colorectal cancer risk.
REFERENCE   2  (residues 1 to 821)
  AUTHORS   Pan X, Mizukami H, Hara Y, Yamada T, Yamazaki K, Kudoh K, Takeuchi
            Y, Sasaki T, Kushibiki H, Igawa A and Hakamada K.
  TITLE     Diabetes mellitus impacts on expression of DNA mismatch repair
            protein PMS2 and tumor microenvironment in pancreatic ductal
            adenocarcinoma
  JOURNAL   J Diabetes Investig 14 (1), 132-144 (2023)
   PUBMED   36453157
  REMARK    GeneRIF: Diabetes mellitus impacts on expression of DNA mismatch
            repair protein PMS2 and tumor microenvironment in pancreatic ductal
            adenocarcinoma.
REFERENCE   3  (residues 1 to 821)
  AUTHORS   Sacho EJ, Kadyrov FA, Modrich P, Kunkel TA and Erie DA.
  TITLE     Direct visualization of asymmetric adenine-nucleotide-induced
            conformational changes in MutL alpha
  JOURNAL   Mol Cell 29 (1), 112-121 (2008)
   PUBMED   18206974
  REMARK    GeneRIF: Adenine nucleotides induce large asymmetric conformational
            changes in full-length human MutL alpha. These changes are
            associated with significant increases in secondary structure.
REFERENCE   4  (residues 1 to 821)
  AUTHORS   Kadyrov FA, Dzantiev L, Constantin N and Modrich P.
  TITLE     Endonucleolytic function of MutLalpha in human mismatch repair
  JOURNAL   Cell 126 (2), 297-308 (2006)
   PUBMED   16873062
REFERENCE   5  (residues 1 to 821)
  AUTHORS   Constantin N, Dzantiev L, Kadyrov FA and Modrich P.
  TITLE     Human mismatch repair: reconstitution of a nick-directed
            bidirectional reaction
  JOURNAL   J Biol Chem 280 (48), 39752-39761 (2005)
   PUBMED   16188885
REFERENCE   6  (residues 1 to 821)
  AUTHORS   Nicolaides NC, Carter KC, Shell BK, Papadopoulos N, Vogelstein B
            and Kinzler KW.
  TITLE     Genomic organization of the human PMS2 gene family
  JOURNAL   Genomics 30 (2), 195-206 (1995)
   PUBMED   8586419
REFERENCE   7  (residues 1 to 821)
  AUTHORS   Nicolaides NC, Kinzler KW and Vogelstein B.
  TITLE     Analysis of the 5' region of PMS2 reveals heterogeneous transcripts
            and a novel overlapping gene
  JOURNAL   Genomics 29 (2), 329-334 (1995)
   PUBMED   8666379
REFERENCE   8  (residues 1 to 821)
  AUTHORS   Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM,
            Krush AJ, Berk T, Cohen Z, Tetu B et al.
  TITLE     The molecular basis of Turcot's syndrome
  JOURNAL   N Engl J Med 332 (13), 839-847 (1995)
   PUBMED   7661930
REFERENCE   9  (residues 1 to 821)
  AUTHORS   Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM,
            Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM et al.
  TITLE     Mutations of two PMS homologues in hereditary nonpolyposis colon
            cancer
  JOURNAL   Nature 371 (6492), 75-80 (1994)
   PUBMED   8072530
REFERENCE   10 (residues 1 to 821)
  AUTHORS   Idos,G. and Valle,L.
  TITLE     Lynch Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301390
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005995.3.
            
            Summary: The protein encoded by this gene is a key component of the
            mismatch repair system that functions to correct DNA mismatches and
            small insertions and deletions that can occur during DNA
            replication and homologous recombination. This protein forms
            heterodimers with the gene product of the mutL homolog 1 (MLH1)
            gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer
            possesses an endonucleolytic activity that is activated following
            recognition of mismatches and insertion/deletion loops by the
            MutS-alpha and MutS-beta heterodimers, and is necessary for removal
            of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the
            C-terminus of the protein encoded by this gene that forms part of
            the active site of the nuclease. Mutations in this gene have been
            associated with hereditary nonpolyposis colorectal cancer (HNPCC;
            also known as Lynch syndrome) and Turcot syndrome. [provided by
            RefSeq, Apr 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..821
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.1"
     Protein         1..821
                     /product="mismatch repair endonuclease PMS2 isoform n"
                     /note="mismatch repair endonuclease PMS2; PMS1 protein
                     homolog 2; DNA mismatch repair protein PMS2; PMS2
                     postmeiotic segregation increased 2; PMS1 homolog 2,
                     mismatch repair protein"
                     /calculated_mol_wt=91082
     Region          13..332
                     /region_name="mutl"
                     /note="DNA mismatch repair protein MutL; TIGR00585"
                     /db_xref="CDD:273155"
     Region          15..815
                     /region_name="MutL"
                     /note="DNA mismatch repair ATPase MutL [Replication,
                     recombination and repair]; COG0323"
                     /db_xref="CDD:223400"
     CDS             1..821
                     /gene="PMS2"
                     /gene_synonym="HNPCC4; LYNCH4; MLH4; MMRCS4; PMS-2;
                     PMS2CL; PMSL2"
                     /coded_by="NM_001406870.1:31..2496"
                     /note="isoform n is encoded by transcript variant 19"
                     /db_xref="GeneID:5395"
                     /db_xref="HGNC:HGNC:9122"
                     /db_xref="MIM:600259"
ORIGIN      
        1 meraessste pakaikpidr ksvhqicsgq vvlslstavk elvensldag atnidlklkd
       61 ygvdlievsd ngcgveeenf egltlkhhts kiqefadltq vetfgfrgea lsslcalsdv
      121 tistchasak vgtrlmfdhn gkiiqktpyp rprgttvsvq qlfstlpvrh kefqrnikke
      181 yakmvqvlha yciisagirv sctnqlgqgk rqpvvctggs psikenigsv fgqkqlqsli
      241 pfvqlppsds vceeyglscs dalhnlfyis gfisqcthgv grsstdrqff finrrpcdpa
      301 kvcrlvnevy hmynrhqypf vvlnisvdsg nlikmhaadl ekpmvekqdq spslrtgeek
      361 kdvsisrlre afslrhtten kphspktpep rrsplgqkrg mlssstsgai sdkgvlrpqk
      421 eavssshgps dptdraevek dsghgstsvd segfsipdtg shcsseyaas spgdrgsqeh
      481 vdsqekapkt ddsfsdvdch snqedtgckf rvlpqptnla tpntkrfkke eilsssdicq
      541 klvntqdmsa sqvdvavkin kkvvpldfsm sslakrikql hheaqqsege qnyrkfraki
      601 cpgenqaaed elrkeisktm faemeiigqf nlgfiitkln edifivdqha tdekynfeml
      661 qqhtvlqgqr liapqtlnlt avneavlien leifrkngfd fvidenvmdf sqncillapv
      721 teraklislp tsknwtfgpq dvdelifmls dspgvmcrps rvkqmfasra crksvmigta
      781 lntsemkkli thmgemdhpw ncphgrptmr hianlgvisq n
//
LOCUS       NP_000587                259 aa            linear   PRI 25-MAR-2023
DEFINITION  insulin-like growth factor-binding protein 1 precursor [Homo
            sapiens].
ACCESSION   NP_000587
VERSION     NP_000587.1
DBSOURCE    REFSEQ: accession NM_000596.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 259)
  AUTHORS   Gupta MB, Biggar KK, Li C, Nathanielsz PW and Jansson T.
  TITLE     Increased Colocalization and Interaction Between Decidual Protein
            Kinase A and Insulin-like Growth Factor-Binding Protein-1 in
            Intrauterine Growth Restriction
  JOURNAL   J Histochem Cytochem 70 (7), 515-530 (2022)
   PUBMED   35801847
  REMARK    GeneRIF: Increased Colocalization and Interaction Between Decidual
            Protein Kinase A and Insulin-like Growth Factor-Binding Protein-1
            in Intrauterine Growth Restriction.
REFERENCE   2  (residues 1 to 259)
  AUTHORS   Li X, Li C, Wang Y, Cai J, Zhao L, Su Z and Ye H.
  TITLE     IGFBP1 inhibits the invasion, migration, and apoptosis of
            HTR-8/SVneo trophoblast cells in preeclampsia
  JOURNAL   Hypertens Pregnancy 41 (1), 53-63 (2022)
   PUBMED   35168459
  REMARK    GeneRIF: IGFBP1 inhibits the invasion, migration, and apoptosis of
            HTR-8/SVneo trophoblast cells in preeclampsia.
REFERENCE   3  (residues 1 to 259)
  AUTHORS   Chen AW, Biggar K, Nygard K, Singal S, Zhao T, Li C, Nathanielsz
            PW, Jansson T and Gupta MB.
  TITLE     IGFBP-1 hyperphosphorylation in response to nutrient deprivation is
            mediated by activation of protein kinase Calpha (PKCalpha)
  JOURNAL   Mol Cell Endocrinol 536, 111400 (2021)
   PUBMED   34314739
  REMARK    GeneRIF: IGFBP-1 hyperphosphorylation in response to nutrient
            deprivation is mediated by activation of protein kinase Calpha
            (PKCalpha).
REFERENCE   4  (residues 1 to 259)
  AUTHORS   Nandi P, Jang CE, Biggar K, Halari CD, Jansson T and Gupta MB.
  TITLE     Mechanistic Target of Rapamycin Complex 1 Signaling Links Hypoxia
            to Increased IGFBP-1 Phosphorylation in Primary Human Decidualized
            Endometrial Stromal Cells
  JOURNAL   Biomolecules 11 (9), 1382 (2021)
   PUBMED   34572595
  REMARK    GeneRIF: Mechanistic Target of Rapamycin Complex 1 Signaling Links
            Hypoxia to Increased IGFBP-1 Phosphorylation in Primary Human
            Decidualized Endometrial Stromal Cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 259)
  AUTHORS   Kakadia J, Biggar K, Jain B, Chen AW, Nygard K, Li C, Nathanielsz
            PW, Jansson T and Gupta MB.
  TITLE     Mechanisms linking hypoxia to phosphorylation of insulin-like
            growth factor binding protein-1 in baboon fetuses with intrauterine
            growth restriction and in cell culture
  JOURNAL   FASEB J 35 (9), e21788 (2021)
   PUBMED   34425031
  REMARK    GeneRIF: Mechanisms linking hypoxia to phosphorylation of
            insulin-like growth factor binding protein-1 in baboon fetuses with
            intrauterine growth restriction and in cell culture.
REFERENCE   6  (residues 1 to 259)
  AUTHORS   Ehrenborg E, Larsson C, Stern I, Janson M, Powell DR and Luthman H.
  TITLE     Contiguous localization of the genes encoding human insulin-like
            growth factor binding proteins 1 (IGBP1) and 3 (IGBP3) on
            chromosome 7
  JOURNAL   Genomics 12 (3), 497-502 (1992)
   PUBMED   1373120
REFERENCE   7  (residues 1 to 259)
  AUTHORS   Brinkman A, Kortleve DJ, Schuller AG, Zwarthoff EC and Drop SL.
  TITLE     Site-directed mutagenesis of the N-terminal region of IGF binding
            protein 1; analysis of IGF binding capability
  JOURNAL   FEBS Lett 291 (2), 264-268 (1991)
   PUBMED   1718783
REFERENCE   8  (residues 1 to 259)
  AUTHORS   Suwanichkul A, Cubbage ML and Powell DR.
  TITLE     The promoter of the human gene for insulin-like growth factor
            binding protein-1. Basal promoter activity in HEP G2 cells depends
            upon liver factor B1
  JOURNAL   J Biol Chem 265 (34), 21185-21193 (1990)
   PUBMED   1701175
REFERENCE   9  (residues 1 to 259)
  AUTHORS   Ekstrand J, Ehrenborg E, Stern I, Stellan B, Zech L and Luthman H.
  TITLE     The gene for insulin-like growth factor-binding protein-1 is
            localized to human chromosomal region 7p14-p12
  JOURNAL   Genomics 6 (3), 413-418 (1990)
   PUBMED   1691735
REFERENCE   10 (residues 1 to 259)
  AUTHORS   Brewer MT, Stetler GL, Squires CH, Thompson RC, Busby WH and
            Clemmons DR.
  TITLE     Cloning, characterization, and expression of a human insulin-like
            growth factor binding protein
  JOURNAL   Biochem Biophys Res Commun 152 (3), 1289-1297 (1988)
   PUBMED   2454104
  REMARK    Erratum:[Biochem Biophys Res Commun 1988 Sep 30;155(3):1485]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX336957.2, M31145.1 and
            CA429917.1.
            
            Summary: This gene is a member of the insulin-like growth factor
            binding protein (IGFBP) family and encodes a protein with an IGFBP
            N-terminal domain and a thyroglobulin type-I domain. The encoded
            protein, mainly expressed in the liver, circulates in the plasma
            and binds both insulin-like growth factors (IGFs) I and II,
            prolonging their half-lives and altering their interaction with
            cell surface receptors. This protein is important in cell migration
            and metabolism. Low levels of this protein may be associated with
            impaired glucose tolerance, vascular disease and hypertension in
            human patients. [provided by RefSeq, Aug 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC057806.1, M31145.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000275525.8/ ENSP00000275525.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..259
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p12.3"
     Protein         1..259
                     /product="insulin-like growth factor-binding protein 1
                     precursor"
                     /note="placental protein 12; amniotic fluid binding
                     protein; alpha-pregnancy-associated endometrial globulin;
                     growth hormone independent-binding protein; binding
                     protein-28; binding protein-26; binding protein-25;
                     IGF-binding protein 1; IBP-1; IGFBP-1"
                     /calculated_mol_wt=25271
     sig_peptide     1..25
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2651
     mat_peptide     26..259
                     /product="Insulin-like growth factor-binding protein 1.
                     /id=PRO_0000014365"
                     /note="propagated from UniProtKB/Swiss-Prot (P08833.1)"
                     /calculated_mol_wt=25271
     Region          28..105
                     /region_name="IB"
                     /note="Insulin growth factor-binding protein homologues;
                     smart00121"
                     /db_xref="CDD:197525"
     Site            45
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P08833.1)"
     Site            120
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19765076; propagated from
                     UniProtKB/Swiss-Prot (P08833.1)"
     Site            123
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19765076; propagated from
                     UniProtKB/Swiss-Prot (P08833.1)"
     Site            126
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19765076,
                     ECO:0000269|PubMed:7678248; propagated from
                     UniProtKB/Swiss-Prot (P08833.1)"
     Site            144
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19765076,
                     ECO:0000269|PubMed:7678248, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P08833.1)"
     Site            156
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P08833.1)"
     Site            157
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P08833.1)"
     Site            158
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P08833.1)"
     Region          176..251
                     /region_name="Thyroglobulin_1"
                     /note="Thyroglobulin type-1 repeat; pfam00086"
                     /db_xref="CDD:425459"
     Site            order(180,201,223,227)
                     /site_type="active"
                     /note="protease interaction site [active]"
                     /db_xref="CDD:238114"
     Site            193
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P08833.1)"
     Site            194
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:19765076,
                     ECO:0000269|PubMed:26091039, ECO:0000269|PubMed:7678248;
                     propagated from UniProtKB/Swiss-Prot (P08833.1)"
     Site            199
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P08833.1)"
     Site            242
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P08833.1)"
     Region          246..248
                     /region_name="Cell attachment site"
                     /note="propagated from UniProtKB/Swiss-Prot (P08833.1)"
     CDS             1..259
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /coded_by="NM_000596.4:166..945"
                     /db_xref="CCDS:CCDS5504.1"
                     /db_xref="GeneID:3484"
                     /db_xref="HGNC:HGNC:5469"
                     /db_xref="MIM:146730"
ORIGIN      
        1 msevpvarvw lvlllltvqv gvtagapwqc apcsaeklal cppvsascse vtrsagcgcc
       61 pmcalplgaa cgvatarcar glscralpge qqplhaltrg qgacvqesda saphaaeags
      121 pespesteit eeelldnfhl mapseedhsi lwdaistydg skalhvtnik kwkepcriel
      181 yrvveslaka qetsgeeisk fylpncnkng fyhsrqcets mdgeaglcwc vypwngkrip
      241 gspeirgdpn cqiyfnvqn
//
LOCUS       NP_000609                153 aa            linear   PRI 26-MAR-2023
DEFINITION  insulin-like growth factor I isoform 4 preproprotein [Homo
            sapiens].
ACCESSION   NP_000609
VERSION     NP_000609.1
DBSOURCE    REFSEQ: accession NM_000618.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 153)
  AUTHORS   Mandal AK, Leask MP, Sumpter NA, Choi HK, Merriman TR and Mount DB.
  TITLE     Genetic and Physiological Effects of Insulin-Like Growth Factor-1
            (IGF-1) on Human Urate Homeostasis
  JOURNAL   J Am Soc Nephrol 34 (3), 451-466 (2023)
   PUBMED   36735516
  REMARK    GeneRIF: Genetic and Physiological Effects of Insulin-Like Growth
            Factor-1 (IGF-1) on Human Urate Homeostasis.
REFERENCE   2  (residues 1 to 153)
  AUTHORS   Kasprzak A.
  TITLE     Autophagy and the Insulin-like Growth Factor (IGF) System in
            Colonic Cells: Implications for Colorectal Neoplasia
  JOURNAL   Int J Mol Sci 24 (4), 3665 (2023)
   PUBMED   36835075
  REMARK    GeneRIF: Autophagy and the Insulin-like Growth Factor (IGF) System
            in Colonic Cells: Implications for Colorectal Neoplasia.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 153)
  AUTHORS   Macvanin M, Gluvic Z, Radovanovic J, Essack M, Gao X and Isenovic
            ER.
  TITLE     New insights on the cardiovascular effects of IGF-1
  JOURNAL   Front Endocrinol (Lausanne) 14, 1142644 (2023)
   PUBMED   36843588
  REMARK    GeneRIF: New insights on the cardiovascular effects of IGF-1.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 153)
  AUTHORS   Arafat HM, Omar J, Shafii N, Naser IA, Al Laham NA, Muhamad R,
            Al-Astani TAD, Shamallakh OM and Shamallakh KM.
  TITLE     The Association Between the Serum Level of IGF-1 and IGFBP-3 and
            the Risk of Breast Cancer among Women in the Gaza Strip
  JOURNAL   Asian Pac J Cancer Prev 24 (2), 717-723 (2023)
   PUBMED   36853324
  REMARK    GeneRIF: The Association Between the Serum Level of IGF-1 and
            IGFBP-3 and the Risk of Breast Cancer among Women in the Gaza
            Strip.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 153)
  AUTHORS   Bibi A, Aamir M, Haroon ZH, Maqsood U and Qamar U.
  CONSRTM   Hajira
  TITLE     Etiological study of short stature in children and role of insulin
            like growth factor-1 and insulin like growth factor binding
            protein-3 as screening markers for growth hormone deficiency
  JOURNAL   J Pak Med Assoc 73 (2), 323-327 (2023)
   PUBMED   36800719
  REMARK    GeneRIF: Etiological study of short stature in children and role of
            insulin like growth factor-1 and insulin like growth factor binding
            protein-3 as screening markers for growth hormone deficiency.
REFERENCE   6  (residues 1 to 153)
  AUTHORS   Sato A, Nishimura S, Ohkubo T, Kyogoku Y, Koyama S, Kobayashi M,
            Yasuda T and Kobayashi Y.
  TITLE     1H-NMR assignment and secondary structure of human insulin-like
            growth factor-I (IGF-I) in solution
  JOURNAL   J Biochem 111 (4), 529-536 (1992)
   PUBMED   1319992
REFERENCE   7  (residues 1 to 153)
  AUTHORS   Ding L, Becker AB, Suzuki A and Roth RA.
  TITLE     Comparison of the enzymatic and biochemical properties of human
            insulin-degrading enzyme and Escherichia coli protease III
  JOURNAL   J Biol Chem 267 (4), 2414-2420 (1992)
   PUBMED   1733942
REFERENCE   8  (residues 1 to 153)
  AUTHORS   Antoniades HN, Galanopoulos T, Neville-Golden J and Maxwell M.
  TITLE     Expression of insulin-like growth factors I and II and their
            receptor mRNAs in primary human astrocytomas and meningiomas; in
            vivo studies using in situ hybridization and immunocytochemistry
  JOURNAL   Int J Cancer 50 (2), 215-222 (1992)
   PUBMED   1370435
REFERENCE   9  (residues 1 to 153)
  AUTHORS   Sandberg-Nordqvist AC, Stahlbom PA, Lake M and Sara VR.
  TITLE     Characterization of two cDNAs encoding insulin-like growth factor 1
            (IGF-1) in the human fetal brain
  JOURNAL   Brain Res Mol Brain Res 12 (1-3), 275-277 (1992)
   PUBMED   1372070
REFERENCE   10 (residues 1 to 153)
  AUTHORS   Rinderknecht,E. and Humbel,R.E.
  TITLE     The amino acid sequence of human insulin-like growth factor I and
            its structural homology with proinsulin
  JOURNAL   J Biol Chem 253 (8), 2769-2776 (1978)
   PUBMED   632300
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB209184.1 and AC010202.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is similar to insulin in
            function and structure and is a member of a family of proteins
            involved in mediating growth and development. The encoded protein
            is processed from a precursor, bound by a specific receptor, and
            secreted. Defects in this gene are a cause of insulin-like growth
            factor I deficiency. Alternative splicing results in multiple
            transcript variants encoding different isoforms that may undergo
            similar processing to generate mature protein. [provided by RefSeq,
            Sep 2015].
            
            Transcript Variant: This variant (4) lacks an alternate
            frame-shifting exon in the 3' coding region, compared to variant 1,
            resulting in a protein (isoform 4) with a novel C-terminus,
            compared to isoform 1. This isoform is also known as IA. Variants 4
            and 7 both encode the same isoform (4).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X57025.1, AB209184.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153307, SAMEA2153932
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337514.11/ ENSP00000337612.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..153
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.2"
     Protein         1..153
                     /product="insulin-like growth factor I isoform 4
                     preproprotein"
                     /note="insulin-like growth factor IB; somatomedin-C;
                     mechano growth factor; insulin-like growth factor 1
                     (somatomedin C)"
                     /calculated_mol_wt=14634
     sig_peptide     1..21
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P05019.1)"
                     /calculated_mol_wt=2410
     mat_peptide     49..118
                     /product="Insulin-like growth factor I.
                     /id=PRO_0000015664"
                     /note="propagated from UniProtKB/Swiss-Prot (P05019.1)"
                     /calculated_mol_wt=7655
     Region          49..116
                     /region_name="IlGF"
                     /note="insulin_like growth factors; specific to
                     vertebrates. Members include a number of peptides
                     including insulin-like growth factors I and II, which play
                     a variety of roles in controlling processes such as
                     growth, differentiation, and reproduction. On a...;
                     cd04368"
                     /db_xref="CDD:239834"
     Region          49..77
                     /region_name="B"
                     /note="propagated from UniProtKB/Swiss-Prot (P05019.1)"
     Site            order(51,60,68..72)
                     /site_type="active"
                     /note="IGFBP binding surface [active]"
                     /db_xref="CDD:239834"
     Site            order(69,71..72,92)
                     /site_type="active"
                     /note="type 1 IGF- and insulin-receptor binding surface
                     [active]"
                     /db_xref="CDD:239834"
     Region          78..89
                     /region_name="C"
                     /note="propagated from UniProtKB/Swiss-Prot (P05019.1)"
     Region          90..110
                     /region_name="A"
                     /note="propagated from UniProtKB/Swiss-Prot (P05019.1)"
     Site            order(97..99,103..104)
                     /site_type="active"
                     /note="type 2 IGF-receptor binding surface [active]"
                     /db_xref="CDD:239834"
     Region          111..118
                     /region_name="D"
                     /note="propagated from UniProtKB/Swiss-Prot (P05019.1)"
     CDS             1..153
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /coded_by="NM_000618.5:183..644"
                     /note="isoform 4 preproprotein is encoded by transcript
                     variant 4"
                     /db_xref="CCDS:CCDS9091.1"
                     /db_xref="GeneID:3479"
                     /db_xref="HGNC:HGNC:5464"
                     /db_xref="MIM:147440"
ORIGIN      
        1 mgkisslptq lfkccfcdfl kvkmhtmsss hlfylalcll tftssatagp etlcgaelvd
       61 alqfvcgdrg fyfnkptgyg sssrrapqtg ivdeccfrsc dlrrlemyca plkpaksars
      121 vraqrhtdmp ktqkevhlkn asrgsagnkn yrm
//
LOCUS       NP_998812                802 aa            linear   PRI 26-MAR-2023
DEFINITION  fibroblast growth factor receptor 4 isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_998812
VERSION     NP_998812.1
DBSOURCE    REFSEQ: accession NM_213647.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 802)
  AUTHORS   Chen X, Chen J, Feng W, Huang W, Wang G, Sun M, Luo X, Wang Y, Nie
            Y, Fan D, Wu K and Xia L.
  TITLE     FGF19-mediated ELF4 overexpression promotes colorectal cancer
            metastasis through transactivating FGFR4 and SRC
  JOURNAL   Theranostics 13 (4), 1401-1418 (2023)
   PUBMED   36923538
  REMARK    GeneRIF: FGF19-mediated ELF4 overexpression promotes colorectal
            cancer metastasis through transactivating FGFR4 and SRC.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 802)
  AUTHORS   Moes-Sosnowska J, Skupinska M, Lechowicz U, Szczepulska-Wojcik E,
            Skronska P, Rozy A, Stepniewska A, Langfort R, Rudzinski P,
            Orlowski T, Popiel D, Stanczak A, Wieczorek M and
            Chorostowska-Wynimko J.
  TITLE     FGFR1-4 RNA-Based Gene Alteration and Expression Analysis in
            Squamous Non-Small Cell Lung Cancer
  JOURNAL   Int J Mol Sci 23 (18), 10506 (2022)
   PUBMED   36142417
  REMARK    GeneRIF: FGFR1-4 RNA-Based Gene Alteration and Expression Analysis
            in Squamous Non-Small Cell Lung Cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 802)
  AUTHORS   Zhang X, Soutto M, Chen Z, Bhat N, Zhu S, Eissmann MF, Ernst M, Lu
            H, Peng D, Xu Z and El-Rifai W.
  TITLE     Induction of Fibroblast Growth Factor Receptor 4 by Helicobacter
            pylori via Signal Transducer and Activator of Transcription 3 With
            a Feedforward Activation Loop Involving Steroid Receptor
            Coactivator Signaling in Gastric Cancer
  JOURNAL   Gastroenterology 163 (3), 620-636 (2022)
   PUBMED   35588797
  REMARK    GeneRIF: Induction of Fibroblast Growth Factor Receptor 4 by
            Helicobacter pylori via Signal Transducer and Activator of
            Transcription 3 With a Feedforward Activation Loop Involving
            Steroid Receptor Coactivator Signaling in Gastric Cancer.
REFERENCE   4  (residues 1 to 802)
  AUTHORS   Zou Y, Zheng S, Xie X, Ye F, Hu X, Tian Z, Yan SM, Yang L, Kong Y,
            Tang Y, Tian W, Xie J, Deng X, Zeng Y, Chen ZS, Tang H and Xie X.
  TITLE     N6-methyladenosine regulated FGFR4 attenuates ferroptotic cell
            death in recalcitrant HER2-positive breast cancer
  JOURNAL   Nat Commun 13 (1), 2672 (2022)
   PUBMED   35562334
  REMARK    GeneRIF: N6-methyladenosine regulated FGFR4 attenuates ferroptotic
            cell death in recalcitrant HER2-positive breast cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 802)
  AUTHORS   Alfuaadi IH and Altamemi IA.
  TITLE     IMPACT OF FGFR4 (GLY388ARG) GENE POLYMORPHISM ALONG WITH VISFATIN
            CYTOKINE AND HIGH MOBILITY GROUP BOX-1 (HMGB1) ON ACUTE
            CHOLECYSTITIS
  JOURNAL   Wiad Lek 75 (5 pt 2), 1242-1247 (2022)
   PUBMED   35758438
  REMARK    GeneRIF: IMPACT OF FGFR4 (GLY388ARG) GENE POLYMORPHISM ALONG WITH
            VISFATIN CYTOKINE AND HIGH MOBILITY GROUP BOX-1 (HMGB1) ON ACUTE
            CHOLECYSTITIS.
REFERENCE   6  (residues 1 to 802)
  AUTHORS   Vainikka S, Partanen J, Bellosta P, Coulier F, Birnbaum D, Basilico
            C, Jaye M and Alitalo K.
  TITLE     Fibroblast growth factor receptor-4 shows novel features in genomic
            structure, ligand binding and signal transduction
  JOURNAL   EMBO J 11 (12), 4273-4280 (1992)
   PUBMED   1385111
  REMARK    Erratum:[EMBO J 1993 Feb;12(2):810]
REFERENCE   7  (residues 1 to 802)
  AUTHORS   Warrington JA, Bailey SK, Armstrong E, Aprelikova O, Alitalo K,
            Dolganov GM, Wilcox AS, Sikela JM, Wolfe SF, Lovett M et al.
  TITLE     A radiation hybrid map of 18 growth factor, growth factor receptor,
            hormone receptor, or neurotransmitter receptor genes on the distal
            region of the long arm of chromosome 5
  JOURNAL   Genomics 13 (3), 803-808 (1992)
   PUBMED   1322355
REFERENCE   8  (residues 1 to 802)
  AUTHORS   Armstrong E, Partanen J, Cannizzaro L, Huebner K and Alitalo K.
  TITLE     Localization of the fibroblast growth factor receptor-4 gene to
            chromosome region 5q33-qter
  JOURNAL   Genes Chromosomes Cancer 4 (1), 94-98 (1992)
   PUBMED   1377018
REFERENCE   9  (residues 1 to 802)
  AUTHORS   Holtrich U, Brauninger A, Strebhardt K and Rubsamen-Waigmann H.
  TITLE     Two additional protein-tyrosine kinases expressed in human lung:
            fourth member of the fibroblast growth factor receptor family and
            an intracellular protein-tyrosine kinase
  JOURNAL   Proc Natl Acad Sci U S A 88 (23), 10411-10415 (1991)
   PUBMED   1720539
REFERENCE   10 (residues 1 to 802)
  AUTHORS   Partanen J, Makela TP, Eerola E, Korhonen J, Hirvonen H,
            Claesson-Welsh L and Alitalo K.
  TITLE     FGFR-4, a novel acidic fibroblast growth factor receptor with a
            distinct expression pattern
  JOURNAL   EMBO J 10 (6), 1347-1354 (1991)
   PUBMED   1709094
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC011847.2, AK225909.1 and
            AC027314.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a tyrosine kinase and
            cell surface receptor for fibroblast growth factors. The encoded
            protein is involved in the regulation of several pathways,
            including cell proliferation, cell differentiation, cell migration,
            lipid metabolism, bile acid biosynthesis, vitamin D metabolism,
            glucose uptake, and phosphate homeostasis. This protein consists of
            an extracellular region, composed of three immunoglobulin-like
            domains, a single hydrophobic membrane-spanning segment, and a
            cytoplasmic tyrosine kinase domain. The extracellular portion
            interacts with fibroblast growth factors, setting in motion a
            cascade of downstream signals, ultimately influencing mitogenesis
            and differentiation. [provided by RefSeq, Aug 2017].
            
            Transcript Variant: This variant (3) uses an alternative splice
            site for the first exon compared to variant 1. Variants 1, 3 and 5
            all encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC011847.2, SRR9304715.459080.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000292408.9/ ENSP00000292408.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..802
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.2"
     Protein         1..802
                     /product="fibroblast growth factor receptor 4 isoform 1
                     precursor"
                     /EC_number="2.7.10.1"
                     /note="hydroxyaryl-protein kinase; tyrosine kinase related
                     to fibroblast growth factor receptor; protein-tyrosine
                     kinase; tyrosylprotein kinase"
                     /calculated_mol_wt=85814
     sig_peptide     1..21
                     /note="/evidence=ECO:0000269|PubMed:15340161; propagated
                     from UniProtKB/Swiss-Prot (P22455.2)"
                     /calculated_mol_wt=2159
     mat_peptide     22..802
                     /product="fibroblast growth factor receptor 4 isoform 1"
                     /calculated_mol_wt=85814
     Region          36..104
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          84..88
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          98..103
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            112
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Region          119..148
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P22455.2)"
     Region          147..241
                     /region_name="IgI_2_FGFR"
                     /note="Second immunoglobulin (Ig)-like domain of
                     fibroblast growth factor (FGF) receptor; member of the
                     I-set of IgSF domains; cd05857"
                     /db_xref="CDD:409443"
     Region          147..150
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409443"
     Region          158..163
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409443"
     Site            order(159,161,163)
                     /site_type="other"
                     /note="FGF binding site [polypeptide binding]"
                     /db_xref="CDD:409443"
     Site            order(160,167..169,171)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:409443"
     Region          167..175
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409443"
     Region          181..186
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409443"
     Region          189..191
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409443"
     Region          200..203
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409443"
     Region          207..212
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409443"
     Region          221..228
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409443"
     Region          231..241
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409443"
     Region          249..351
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            258
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Region          267..271
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          280..284
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            290
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Site            311
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Region          316..320
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Site            322
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Region          330..335
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          343..346
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Site            370..390
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P22455.2)"
     Site            390
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, in variant R-388.
                     /evidence=ECO:0000269|PubMed:26675719; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Region          454..767
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(473..476,479,481,501,503,534,550..553,612,616..617,
                     619,629..630)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     Site            573
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Site            642
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:18670643; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Site            643
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:18670643; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     Site            754
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:7518429; propagated from
                     UniProtKB/Swiss-Prot (P22455.2)"
     CDS             1..802
                     /gene="FGFR4"
                     /gene_synonym="CD334; JTK2; TKF"
                     /coded_by="NM_213647.3:217..2625"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS4410.1"
                     /db_xref="GeneID:2264"
                     /db_xref="HGNC:HGNC:3691"
                     /db_xref="MIM:134935"
ORIGIN      
        1 mrlllallgv llsvpgppvl sleaseevel epclapsleq qeqeltvalg qpvrlccgra
       61 ergghwykeg srlapagrvr gwrgrleias flpedagryl clargsmivl qnltlitgds
      121 ltssnddedp kshrdpsnrh sypqqapywt hpqrmekklh avpagntvkf rcpaagnptp
      181 tirwlkdgqa fhgenriggi rlrhqhwslv mesvvpsdrg tytclvenav gsirynylld
      241 vlersphrpi lqaglpantt avvgsdvell ckvysdaqph iqwlkhivin gssfgadgfp
      301 yvqvlktadi nssevevlyl rnvsaedage ytclagnsig lsyqsawltv lpeedptwta
      361 aapearytdi ilyasgslal avllllagly rgqalhgrhp rppatvqkls rfplarqfsl
      421 esgssgksss slvrgvrlss sgpallaglv sldlpldplw efprdrlvlg kplgegcfgq
      481 vvraeafgmd parpdqastv avkmlkdnas dkdladlvse mevmkligrh kniinllgvc
      541 tqegplyviv ecaakgnlre flrarrppgp dlspdgprss egplsfpvlv scayqvargm
      601 qylesrkcih rdlaarnvlv tednvmkiad fglargvhhi dyykktsngr lpvkwmapea
      661 lfdrvythqs dvwsfgillw eiftlggspy pgipveelfs llreghrmdr pphcppelyg
      721 lmrecwhaap sqrptfkqlv ealdkvllav seeyldlrlt fgpyspsggd asstcsssds
      781 vfshdplplg sssfpfgsgv qt
//
LOCUS       NP_001340159             579 aa            linear   PRI 26-MAR-2023
DEFINITION  folliculin isoform 1 [Homo sapiens].
ACCESSION   NP_001340159 XP_016879795
VERSION     NP_001340159.1
DBSOURCE    REFSEQ: accession NM_001353230.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 579)
  AUTHORS   van de Beek I, Glykofridis IE, Oosterwijk JC, van den Akker PC,
            Diercks GFH, Bolling MC, Waisfisz Q, Mensenkamp AR, Balk JA, Zwart
            R, Postma AV, Meijers-Heijboer HEJ, van Moorselaar RJA, Wolthuis
            RMF and Houweling AC.
  TITLE     PRDM10 directs FLCN expression in a novel disorder overlapping with
            Birt-Hogg-Dube syndrome and familial lipomatosis
  JOURNAL   Hum Mol Genet 32 (7), 1223-1235 (2023)
   PUBMED   36440963
  REMARK    GeneRIF: PRDM10 directs FLCN expression in a novel disorder
            overlapping with Birt-Hogg-Dube syndrome and familial lipomatosis.
REFERENCE   2  (residues 1 to 579)
  AUTHORS   van de Beek I, Glykofridis IE, Wagner A, den Toom DT, Bongers EMHF,
            van Leenders GJLH, Johannesma PC, Meijers-Heijboer HEJ, Wolthuis
            RMF, van Steensel MAM, Dubbink HJ and Houweling AC.
  TITLE     Combined germline pathogenic variants in FLCN and TP53 are
            associated with early onset renal cell carcinoma and brain tumors
  JOURNAL   Mol Genet Genomic Med 11 (2), e2098 (2023)
   PUBMED   36382415
  REMARK    GeneRIF: Combined germline pathogenic variants in FLCN and TP53 are
            associated with early onset renal cell carcinoma and brain tumors.
REFERENCE   3  (residues 1 to 579)
  AUTHORS   Glykofridis IE, Henneman AA, Balk JA, Goeij-de Haas R, Westland D,
            Piersma SR, Knol JC, Pham TV, Boekhout M, Zwartkruis FJT, Wolthuis
            RMF and Jimenez CR.
  TITLE     Phosphoproteomic Analysis of FLCN Inactivation Highlights
            Differential Kinase Pathways and Regulatory TFEB Phosphoserines
  JOURNAL   Mol Cell Proteomics 21 (9), 100263 (2022)
   PUBMED   35863698
  REMARK    GeneRIF: Phosphoproteomic Analysis of FLCN Inactivation Highlights
            Differential Kinase Pathways and Regulatory TFEB Phosphoserines.
REFERENCE   4  (residues 1 to 579)
  AUTHORS   Savatt JM, Shimelis H, Moreno-De-Luca A, Strande NT, Oetjens MT,
            Ledbetter DH, Martin CL, Myers SM and Finucane BM.
  TITLE     Frequency of truncating FLCN variants and Birt-Hogg-Dube-associated
            phenotypes in a health care system population
  JOURNAL   Genet Med 24 (9), 1857-1866 (2022)
   PUBMED   35639097
  REMARK    GeneRIF: Frequency of truncating FLCN variants and
            Birt-Hogg-Dube-associated phenotypes in a health care system
            population.
REFERENCE   5  (residues 1 to 579)
  AUTHORS   Khoo SK, Giraud S, Kahnoski K, Chen J, Motorna O, Nickolov R, Binet
            O, Lambert D, Friedel J, Levy R, Ferlicot S, Wolkenstein P, Hammel
            P, Bergerheim U, Hedblad MA, Bradley M, Teh BT, Nordenskjold M and
            Richard S.
  TITLE     Clinical and genetic studies of Birt-Hogg-Dube syndrome
  JOURNAL   J Med Genet 39 (12), 906-912 (2002)
   PUBMED   12471204
  REMARK    GeneRIF: Clinical and genetic studies of four sporadic BHD cases
            and four families with a total of 23 affected subjects
            Erratum:[J Med Genet. 2003 Feb;40(2):150.]
REFERENCE   6  (residues 1 to 579)
  AUTHORS   Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML,
            Duray P, Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M,
            Munroe D, Hill R, Maher E, Greenberg C, Lerman MI, Linehan WM, Zbar
            B and Schmidt LS.
  TITLE     Mutations in a novel gene lead to kidney tumors, lung wall defects,
            and benign tumors of the hair follicle in patients with the
            Birt-Hogg-Dube syndrome
  JOURNAL   Cancer Cell 2 (2), 157-164 (2002)
   PUBMED   12204536
  REMARK    GeneRIF: Mutations lead to kidney tumors, lung wall defects, and
            benign tumors of the hair follicle in patients with the
            Birt-Hogg-Dube syndrome
REFERENCE   7  (residues 1 to 579)
  AUTHORS   Schmidt LS, Warren MB, Nickerson ML, Weirich G, Matrosova V, Toro
            JR, Turner ML, Duray P, Merino M, Hewitt S, Pavlovich CP, Glenn G,
            Greenberg CR, Linehan WM and Zbar B.
  TITLE     Birt-Hogg-Dube syndrome, a genodermatosis associated with
            spontaneous pneumothorax and kidney neoplasia, maps to chromosome
            17p11.2
  JOURNAL   Am J Hum Genet 69 (4), 876-882 (2001)
   PUBMED   11533913
REFERENCE   8  (residues 1 to 579)
  AUTHORS   Khoo SK, Bradley M, Wong FK, Hedblad MA, Nordenskjold M and Teh BT.
  TITLE     Birt-Hogg-Dube syndrome: mapping of a novel hereditary neoplasia
            gene to chromosome 17p12-q11.2
  JOURNAL   Oncogene 20 (37), 5239-5242 (2001)
   PUBMED   11526515
REFERENCE   9  (residues 1 to 579)
  AUTHORS   Potocki,L., Neira-Fresneda,J. and Yuan,B.
  TITLE     Potocki-Lupski Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   28837307
REFERENCE   10 (residues 1 to 579)
  AUTHORS   Sattler,E.C. and Steinlein,O.K.
  TITLE     Birt-Hogg-Dube Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301695
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC055811.20.
            On Jul 1, 2017 this sequence version replaced XP_016879795.1.
            
            Summary: This gene is located within the Smith-Magenis syndrome
            region on chromosome 17. Mutations in this gene are associated with
            Birt-Hogg-Dube syndrome, which is characterized by
            fibrofolliculomas, renal tumors, lung cysts, and pneumothorax.
            Alternative splicing of this gene results in two transcript
            variants encoding different isoforms. [provided by RefSeq, Jul
            2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.102430.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..579
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     Protein         1..579
                     /product="folliculin isoform 1"
                     /EC_number="2.7.1.21"
                     /note="birt-Hogg-Dube syndrome protein; BHD skin lesion
                     fibrofolliculoma protein"
                     /calculated_mol_wt=64342
     Region          30..81
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFG4.1)"
     Site            62
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8NFG4.1)"
     Site            73
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NFG4.1)"
     Region          106..265
                     /region_name="Folliculin"
                     /note="Vesicle coat protein involved in Golgi to plasma
                     membrane transport; pfam11704"
                     /db_xref="CDD:432012"
     Site            164
                     /site_type="other"
                     /note="Essential for GTPase activation (GAP) activity.
                     /evidence=ECO:0000269|PubMed:31672913,
                     ECO:0000269|PubMed:31704029; propagated from
                     UniProtKB/Swiss-Prot (Q8NFG4.1)"
     Region          210..220
                     /region_name="Essential for interaction with LDHA.
                     /evidence=ECO:0000269|PubMed:34381247"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFG4.1)"
     Region          294..337
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFG4.1)"
     Site            302
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NFG4.1)"
     Region          344..566
                     /region_name="Folliculin_C"
                     /note="Folliculin C-terminal domain; pfam16692"
                     /db_xref="CDD:435520"
     Site            406
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ULK1.
                     /evidence=ECO:0000269|PubMed:25126726; propagated from
                     UniProtKB/Swiss-Prot (Q8NFG4.1)"
     Site            537
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ULK1.
                     /evidence=ECO:0000269|PubMed:25126726; propagated from
                     UniProtKB/Swiss-Prot (Q8NFG4.1)"
     Site            542
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ULK1.
                     /evidence=ECO:0000269|PubMed:25126726; propagated from
                     UniProtKB/Swiss-Prot (Q8NFG4.1)"
     Site            571
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NFG4.1)"
     CDS             1..579
                     /gene="FLCN"
                     /gene_synonym="BHD; DENND8B; FLCL"
                     /coded_by="NM_001353230.2:768..2507"
                     /note="isoform 1 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS32579.1"
                     /db_xref="GeneID:201163"
                     /db_xref="HGNC:HGNC:27310"
                     /db_xref="MIM:607273"
ORIGIN      
        1 mnaivalchf celhgprtlf ctevlhaplp qgdgnedspg qgeqaeeeeg giqmnsrmra
       61 hspaegasve ssspgpkksd mcegcrslaa ghpgyishdk etsikyvshq hpshpqlfsi
      121 vrqacvrsls cevcpgregp iffgdeqhgf vfshtffikd slargfqrwy siitimmdri
      181 ylinswpfll gkvrgiidel qgkalkvfea eqfgcpqraq rmntaftpfl hqrngnaars
      241 ltsltsddnl waclhtsfaw llkacgsrlt ekllegapte dtlvqmekla dleeeseswd
      301 nseaeeeeka pvlpestegr eltqgpaess slsgcgswqp rklpvfkslr hmrqvlgaps
      361 frmlawhvlm gnqviwksrd vdlvqsafev lrtmlpvgcv riipyssqye eayrcnflgl
      421 sphvqipphv lssefavive vhaaarstlh pvgceddqsl skyefvvtsg spvaadrvgp
      481 tilnkieaal tnqnlsvdvv dqclvclkee wmnkvkvlfk ftkvdsrpke dtqkllsilg
      541 aseednvkll kfwmtglskt ykshlmstvr sptasesrn
//
LOCUS       NP_001242910             375 aa            linear   PRI 16-APR-2023
DEFINITION  cyclic AMP-responsive element-binding protein 3-like protein 4
            isoform 2 [Homo sapiens].
ACCESSION   NP_001242910
VERSION     NP_001242910.1
DBSOURCE    REFSEQ: accession NM_001255981.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 375)
  AUTHORS   Li C, Feng S and Chen L.
  TITLE     MSC-AS1 knockdown inhibits cell growth and temozolomide resistance
            by regulating miR-373-3p/CPEB4 axis in glioma through PI3K/Akt
            pathway
  JOURNAL   Mol Cell Biochem 476 (2), 699-713 (2021)
   PUBMED   33106913
  REMARK    GeneRIF: MSC-AS1 knockdown inhibits cell growth and temozolomide
            resistance by regulating miR-373-3p/CPEB4 axis in glioma through
            PI3K/Akt pathway.
REFERENCE   2  (residues 1 to 375)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 375)
  AUTHORS   Pu Q, Lu L, Dong K, Geng WW, Lv YR and Gao HD.
  TITLE     The Novel Transcription Factor CREB3L4 Contributes to the
            Progression of Human Breast Carcinoma
  JOURNAL   J Mammary Gland Biol Neoplasia 25 (1), 37-50 (2020)
   PUBMED   32026099
  REMARK    GeneRIF: The Novel Transcription Factor CREB3L4 Contributes to the
            Progression of Human Breast Carcinoma.
REFERENCE   4  (residues 1 to 375)
  AUTHORS   Jing X, Liang H, Hao C, Yang X and Cui X.
  TITLE     Overexpression of MUC1 predicts poor prognosis in patients with
            breast cancer
  JOURNAL   Oncol Rep 41 (2), 801-810 (2019)
   PUBMED   30483806
  REMARK    GeneRIF: Study demonstrated that MCU1 is frequently overexpressed
            in breast cancer and abnormally high expression of MUC1 indicates
            poor prognosis. Subsequent data mining across multiple large
            databases demonstrated a positive association between MUC1 mRNA
            expression CREB3L4 in breast cancer tissues. Results indicated that
            MUC1 transcript expression may regulate tumor invasion and
            metastasis associated with CREB3L4 transcription.
REFERENCE   5  (residues 1 to 375)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (residues 1 to 375)
  AUTHORS   Ben Aicha S, Lessard J, Pelletier M, Fournier A, Calvo E and Labrie
            C.
  TITLE     Transcriptional profiling of genes that are regulated by the
            endoplasmic reticulum-bound transcription factor AIbZIP/CREB3L4 in
            prostate cells
  JOURNAL   Physiol Genomics 31 (2), 295-305 (2007)
   PUBMED   17712038
  REMARK    GeneRIF: In LNCaP cell lines that conditionally express the
            processed form of AIbZIP, downstream targets of AIbZIP include
            genes for protein processing, transcriptional regulation, small
            molecule transport, signal transduction, metabolism & cell
            homeostasis.
REFERENCE   7  (residues 1 to 375)
  AUTHORS   Stirling J and O'hare P.
  TITLE     CREB4, a transmembrane bZip transcription factor and potential new
            substrate for regulation and cleavage by S1P
  JOURNAL   Mol Biol Cell 17 (1), 413-426 (2006)
   PUBMED   16236796
  REMARK    GeneRIF: S1P cleavage of CREB4 may be suppressed by a determinant
            in the C-terminal region
REFERENCE   8  (residues 1 to 375)
  AUTHORS   Stelzer G and Don J.
  TITLE     Atce1: a novel mouse cyclic adenosine
            3',5'-monophosphate-responsive element-binding protein-like gene
            exclusively expressed in postmeiotic spermatids
  JOURNAL   Endocrinology 143 (5), 1578-1588 (2002)
   PUBMED   11956138
REFERENCE   9  (residues 1 to 375)
  AUTHORS   Qi H, Fillion C, Labrie Y, Grenier J, Fournier A, Berger L, El-Alfy
            M and Labrie C.
  TITLE     AIbZIP, a novel bZIP gene located on chromosome 1q21.3 that is
            highly expressed in prostate tumors and of which the expression is
            up-regulated by androgens in LNCaP human prostate cancer cells
  JOURNAL   Cancer Res 62 (3), 721-733 (2002)
   PUBMED   11830526
  REMARK    GeneRIF: AIbZIP, a novel bZIP gene located on chromosome 1q21.3
            that is highly expressed in prostate tumors and of which the
            expression is up-regulated by androgens in LNCaP human prostate
            cancer cells.
REFERENCE   10 (residues 1 to 375)
  AUTHORS   Cao G, Ni X, Jiang M, Ma Y, Cheng H, Guo L, Ji C, Gu S, Xie Y and
            Mao Y.
  TITLE     Molecular cloning and characterization of a novel human cAMP
            response element-binding (CREB) gene (CREB4)
  JOURNAL   J Hum Genet 47 (7), 373-376 (2002)
   PUBMED   12111373
  REMARK    GeneRIF: identified a novel human CREB gene (CREB4) that was 1592
            bp long and encoded a protein of 395 amino acid residues
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX647716.1 and AL358472.54.
            
            Summary: This gene encodes a CREB (cAMP responsive element binding)
            protein with a transmembrane domain which localizes it to the ER
            membrane. The encoded protein is a transcriptional activator which
            contains a dimerization domain, and this protein may function in a
            number of processing pathways including protein processing.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (5) differs in the 5' UTR and uses
            an alternate in-frame splice site in the 5' coding region compared
            to variant 1. The resulting protein (isoform 2) is shorter compared
            to isoform 1. Variants 4 and 5 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX647716.1, SRR14038195.2644322.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..375
                     /product="cyclic AMP-responsive element-binding protein
                     3-like protein 4 isoform 2"
                     /note="cyclic AMP-responsive element-binding protein
                     3-like protein 4; cAMP responsive element binding protein
                     1; CREB-4; tisp40; attaching to CRE-like 1;
                     cAMP-responsive element-binding protein 4;
                     androgen-induced basic leucine zipper protein; cyclic
                     AMP-responsive element-binding protein 4; transcript
                     induced in spermiogenesis protein 40; cAMP-responsive
                     element-binding protein 3-like protein 4"
                     /calculated_mol_wt=41144
     Region          57..>134
                     /region_name="PCC"
                     /note="polycystin cation channel protein; TIGR00864"
                     /db_xref="CDD:188093"
     Region          198..258
                     /region_name="bZIP_CREB3"
                     /note="Basic leucine zipper (bZIP) domain of Cyclic
                     AMP-responsive element-binding protein 3 (CREB3) and
                     similar proteins: a DNA-binding and dimerization domain;
                     cd14689"
                     /db_xref="CDD:269837"
     Region          200..251
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:269837"
     Site            order(203..204,206..208,210..215,217..219)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:269837"
     Site            order(218,221..222,225..226,228..229,232..233,235..236,
                     239..240,242..243,246..247,249..250)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:269837"
     CDS             1..375
                     /gene="CREB3L4"
                     /gene_synonym="AIBZIP; ATCE1; CREB3; CREB4; hJAL; JAL"
                     /coded_by="NM_001255981.2:66..1193"
                     /note="isoform 2 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS58029.1"
                     /db_xref="GeneID:148327"
                     /db_xref="HGNC:HGNC:18854"
                     /db_xref="MIM:607138"
ORIGIN      
        1 mdlgipdlld awleppedif stgsvlelgl hcpppevpgl qesepedflk lfidpnevyc
       61 seaspgsdsg isedpchpds ppapratssp mlyevvyeag alermqgetg pnvglisiql
      121 dqwspafmvp dscmvselpf dahahilpra gtvapvpctt llpcqtlflt deekrllgqe
      181 gvslpshlpl tkaeervlkk vrrkirnkqs aqdsrrrkke yidglesrva acsaqnqelq
      241 kkvqelerhn islvaqlrql qtliaqtsnk aaqtstcvli llfslaliil psfspfqsrp
      301 eagsedyqph gvtsrnilth kdvtenletq vvesrlrepp gakdangstr tllekmggkp
      361 rpsgrirsvl hadem
//
LOCUS       NP_001056                455 aa            linear   PRI 17-APR-2023
DEFINITION  tumor necrosis factor receptor superfamily member 1A isoform 1
            precursor [Homo sapiens].
ACCESSION   NP_001056
VERSION     NP_001056.1
DBSOURCE    REFSEQ: accession NM_001065.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 455)
  AUTHORS   Giudici KV, de Souto Barreto P, Guyonnet S, Morley JE, Nguyen AD,
            Aggarwal G, Parini A, Li Y, Bateman RJ and Vellas B.
  CONSRTM   MAPT/DSA Group
  TITLE     TNFR-1 and GDF-15 Are Associated With Plasma Neurofilament Light
            Chain and Progranulin Among Community-Dwelling Older Adults: A
            Secondary Analysis of the MAPT Study
  JOURNAL   J Gerontol A Biol Sci Med Sci 78 (4), 569-578 (2023)
   PUBMED   36508390
  REMARK    GeneRIF: TNFR-1 and GDF-15 Are Associated With Plasma Neurofilament
            Light Chain and Progranulin Among Community-Dwelling Older Adults:
            A Secondary Analysis of the MAPT Study.
REFERENCE   2  (residues 1 to 455)
  AUTHORS   Gui XY and Rabkin SW.
  TITLE     C-Reactive Protein, Interleukin-6, Trimethylamine-N-Oxide,
            Syndecan-1, Nitric Oxide, and Tumor Necrosis Factor Receptor-1 in
            Heart Failure with Preserved Versus Reduced Ejection Fraction: a
            Meta-Analysis
  JOURNAL   Curr Heart Fail Rep 20 (1), 1-11 (2023)
   PUBMED   36479675
  REMARK    GeneRIF: C-Reactive Protein, Interleukin-6, Trimethylamine-N-Oxide,
            Syndecan-1, Nitric Oxide, and Tumor Necrosis Factor Receptor-1 in
            Heart Failure with Preserved Versus Reduced Ejection Fraction: a
            Meta-Analysis.
            Review article
REFERENCE   3  (residues 1 to 455)
  AUTHORS   Acuna K, Choudhary A, Locatelli E, Rodriguez DA, Martin ER, Levitt
            RC and Galor A.
  TITLE     Impact of Tumor Necrosis Factor Receptor 1 (TNFR1) Polymorphism on
            Dry Eye Disease
  JOURNAL   Biomolecules 13 (2), 262 (2023)
   PUBMED   36830631
  REMARK    GeneRIF: Impact of Tumor Necrosis Factor Receptor 1 (TNFR1)
            Polymorphism on Dry Eye Disease.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 455)
  AUTHORS   Alshevskaya A, Lopatnikova J, Zhukova J, Chumasova O, Shkaruba N,
            Sizikov A, Evsegneeva I, Demina D, Nepomniashchikch V, Karaulov A
            and Sennikov S.
  TITLE     The Influence of Severity and Disease Duration on TNF Receptors'
            Redistribution in Asthma and Rheumatoid Arthritis
  JOURNAL   Cells 12 (1), 5 (2022)
   PUBMED   36611799
  REMARK    GeneRIF: The Influence of Severity and Disease Duration on TNF
            Receptors' Redistribution in Asthma and Rheumatoid Arthritis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 455)
  AUTHORS   McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade
            BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T,
            McCarthy J, Frucht DM, Aringer M, Torosyan Y, Teppo AM, Wilson M,
            Karaarslan HM, Wan Y, Todd I, Wood G, Schlimgen R, Kumarajeewa TR,
            Cooper SM, Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki
            A, Powell RJ, Hitman GA, O'Shea JJ and Kastner DL.
  TITLE     Germline mutations in the extracellular domains of the 55 kDa TNF
            receptor, TNFR1, define a family of dominantly inherited
            autoinflammatory syndromes
  JOURNAL   Cell 97 (1), 133-144 (1999)
   PUBMED   10199409
REFERENCE   6  (residues 1 to 455)
  AUTHORS   Deuitch,N., Cudrici,C., Ombrello,A. and Aksentijevich,I.
  TITLE     TNF Receptor-Associated Periodic Fever Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36375008
REFERENCE   7  (residues 1 to 455)
  AUTHORS   Zhang XM, Weber I and Chen MJ.
  TITLE     Site-directed mutational analysis of human tumor necrosis
            factor-alpha receptor binding site and structure-functional
            relationship
  JOURNAL   J Biol Chem 267 (33), 24069-24075 (1992)
   PUBMED   1331108
REFERENCE   8  (residues 1 to 455)
  AUTHORS   Fuchs P, Strehl S, Dworzak M, Himmler A and Ambros PF.
  TITLE     Structure of the human TNF receptor 1 (p60) gene (TNFR1) and
            localization to chromosome 12p13 [corrected]
  JOURNAL   Genomics 13 (1), 219-224 (1992)
   PUBMED   1315717
  REMARK    Erratum:[Genomics 1992 Aug;13(4):1384]
REFERENCE   9  (residues 1 to 455)
  AUTHORS   Derre J, Kemper O, Cherif D, Nophar Y, Berger R and Wallach D.
  TITLE     The gene for the type 1 tumor necrosis factor receptor (TNF-R1) is
            localized on band 12p13
  JOURNAL   Hum Genet 87 (2), 231-233 (1991)
   PUBMED   1648547
REFERENCE   10 (residues 1 to 455)
  AUTHORS   Belokrylov,G.A. and Zhitnukhin,Iu.L.
  TITLE     [Effect of antibodies to rat and human cerebral cortex and white
            matter on heterologous T- and B-cells]
  JOURNAL   Zh Mikrobiol Epidemiol Immunobiol (9), 66-70 (1976)
   PUBMED   1087798
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315509.1, M63121.1 and
            BC010140.2.
            
            Summary: This gene encodes a member of the TNF receptor superfamily
            of proteins. The encoded receptor is found in membrane-bound and
            soluble forms that interact with membrane-bound and soluble forms,
            respectively, of its ligand, tumor necrosis factor alpha. Binding
            of membrane-bound tumor necrosis factor alpha to the membrane-bound
            receptor induces receptor trimerization and activation, which plays
            a role in cell survival, apoptosis, and inflammation. Proteolytic
            processing of the encoded receptor results in release of the
            soluble form of the receptor, which can interact with free tumor
            necrosis factor alpha to inhibit inflammation. Mutations in this
            gene underlie tumor necrosis factor receptor-associated periodic
            syndrome (TRAPS), characterized by fever, abdominal pain and other
            features. Mutations in this gene may also be associated with
            multiple sclerosis in human patients. [provided by RefSeq, Sep
            2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M58286.1, M63121.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000162749.7/ ENSP00000162749.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..455
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     Protein         1..455
                     /product="tumor necrosis factor receptor superfamily
                     member 1A isoform 1 precursor"
                     /note="tumor necrosis factor-alpha receptor; tumor
                     necrosis factor binding protein 1; tumor necrosis factor
                     receptor type 1; TNF-R1; TNF-RI; TNFR-I; tumor necrosis
                     factor receptor superfamily member 1A"
                     /calculated_mol_wt=47521
     sig_peptide     1..29
                     /note="/evidence=ECO:0000269|PubMed:2158862; propagated
                     from UniProtKB/Swiss-Prot (P19438.1)"
                     /calculated_mol_wt=2993
     mat_peptide     30..455
                     /product="Tumor necrosis factor receptor superfamily
                     member 1A, membrane form. /id=PRO_0000034543"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1)"
                     /calculated_mol_wt=47521
     mat_peptide     41..201
                     /product="Tumor necrosis factor-binding protein 1.
                     /id=PRO_0000034544"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1)"
                     /calculated_mol_wt=18181
     Region          43..82
                     /region_name="TNFR-Cys 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1)"
     Region          44..175
                     /region_name="TNFRSF1A"
                     /note="Tumor necrosis factor receptor superfamily member
                     1A (TNFRSF1A), also known as TNFR1; cd10576"
                     /db_xref="CDD:276902"
     Site            order(44..46,50,89,98,100..101,103,106,108,122,133,
                     135..136,173,175)
                     /site_type="other"
                     /note="antiparallel homodimerization interface
                     [polypeptide binding]"
                     /db_xref="CDD:276902"
     Region          44..81
                     /region_name="CRD1"
                     /note="CRD1 [structural motif]"
                     /db_xref="CDD:276902"
     Site            order(46..48,60..66,78,83,93,119..120,159,162,165..167,
                     174)
                     /site_type="other"
                     /note="parallel homodimerization interface [polypeptide
                     binding]"
                     /db_xref="CDD:276902"
     Site            54
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P19438.1)"
     Region          83..125
                     /region_name="TNFR-Cys 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1)"
     Region          84..125
                     /region_name="CRD2"
                     /note="CRD2 [structural motif]"
                     /db_xref="CDD:276902"
     Site            order(88,98..101,104,106..108,142)
                     /site_type="other"
                     /note="polypeptide ligand binding site [polypeptide
                     binding]"
                     /db_xref="CDD:276902"
     Region          126..166
                     /region_name="TNFR-Cys 3"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1)"
     Region          127..166
                     /region_name="CRD3"
                     /note="CRD3 [structural motif]"
                     /db_xref="CDD:276902"
     Site            145
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P19438.1)"
     Site            151
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P19438.1)"
     Region          167..196
                     /region_name="TNFR-Cys 4"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1)"
     Site            212..232
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1)"
     Region          250..>366
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          254..273
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1)"
     Region          338..348
                     /region_name="N-SMase activation domain (NSD)"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1)"
     Region          358..438
                     /region_name="Death_TNFR1"
                     /note="Death domain of Tumor Necrosis Factor Receptor 1;
                     cd08313"
                     /db_xref="CDD:176729"
     Site            376
                     /site_type="glycosylation"
                     /note="(Microbial infection) N-beta-linked (GlcNAc)
                     arginine. /evidence=ECO:0000269|PubMed:30979585,
                     ECO:0000305|PubMed:23955153; propagated from
                     UniProtKB/Swiss-Prot (P19438.1)"
     CDS             1..455
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /coded_by="NM_001065.4:263..1630"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS8542.1"
                     /db_xref="GeneID:7132"
                     /db_xref="HGNC:HGNC:11916"
                     /db_xref="MIM:191190"
ORIGIN      
        1 mglstvpdll lplvllellv giypsgvigl vphlgdrekr dsvcpqgkyi hpqnnsicct
       61 kchkgtylyn dcpgpgqdtd crecesgsft asenhlrhcl scskcrkemg qveissctvd
      121 rdtvcgcrkn qyrhywsenl fqcfncslcl ngtvhlscqe kqntvctcha gfflrenecv
      181 scsnckksle ctklclpqie nvkgtedsgt tvllplviff glcllsllfi glmyryqrwk
      241 sklysivcgk stpekegele gtttkplapn psfsptpgft ptlgfspvps stftssstyt
      301 pgdcpnfaap rrevappyqg adpilatala sdpipnplqk wedsahkpqs ldtddpatly
      361 avvenvpplr wkefvrrlgl sdheidrlel qngrclreaq ysmlatwrrr tprreatlel
      421 lgrvlrdmdl lgcledieea lcgpaalppa psllr
//
LOCUS       NP_955475                916 aa            linear   PRI 17-APR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 4 isoform b [Homo sapiens].
ACCESSION   NP_955475
VERSION     NP_955475.1
DBSOURCE    REFSEQ: accession NM_199443.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 916)
  AUTHORS   Yun SI, Kwak C, Lee SY, Shin S, Oh C, Kim JS, Rhee HW and Kim KK.
  TITLE     Binding of USP4 to cortactin enhances cell migration in HCT116
            human colon cancer cells
  JOURNAL   FASEB J 37 (5), e22900 (2023)
   PUBMED   37039823
  REMARK    GeneRIF: Binding of USP4 to cortactin enhances cell migration in
            HCT116 human colon cancer cells.
REFERENCE   2  (residues 1 to 916)
  AUTHORS   Tao Y and You W.
  TITLE     The Deubiquitinating Enzyme USP4 Functions as an Oncoprotein in
            Gastric Cancer and Mediates NF-kappaB Signaling by Regulating PRL-3
            Expression
  JOURNAL   Front Biosci (Landmark Ed) 27 (10), 286 (2022)
   PUBMED   36336860
  REMARK    GeneRIF: The Deubiquitinating Enzyme USP4 Functions as an
            Oncoprotein in Gastric Cancer and Mediates NF-kappaB Signaling by
            Regulating PRL-3 Expression.
REFERENCE   3  (residues 1 to 916)
  AUTHORS   Tang Q, Chen Z, Xie J, Mo C, Lu J, Zhang Q, Wang Z, Wu W and Wang
            H.
  TITLE     Transcriptome Analysis and Single-Cell Sequencing Analysis
            Constructed the Ubiquitination-Related Signature in Glioma and
            Identified USP4 as a Novel Biomarker
  JOURNAL   Front Immunol 13, 915709 (2022)
   PUBMED   35774799
  REMARK    GeneRIF: Transcriptome Analysis and Single-Cell Sequencing Analysis
            Constructed the Ubiquitination-Related Signature in Glioma and
            Identified USP4 as a Novel Biomarker.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 916)
  AUTHORS   Sarri N, Wang K, Tsioumpekou M, Castillejo-Lopez C, Lennartsson J,
            Heldin CH and Papadopoulos N.
  TITLE     Deubiquitinating enzymes USP4 and USP17 finetune the trafficking of
            PDGFRbeta and affect PDGF-BB-induced STAT3 signalling
  JOURNAL   Cell Mol Life Sci 79 (2), 85 (2022)
   PUBMED   35064336
  REMARK    GeneRIF: Deubiquitinating enzymes USP4 and USP17 finetune the
            trafficking of PDGFRbeta and affect PDGF-BB-induced STAT3
            signalling.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 916)
  AUTHORS   Wang Y, Zhou L, Lu J, Jiang B, Liu C, Liang Z, Zhou W and Guo J.
  TITLE     Ubiquitin-specific protease 4 predicts an unfavorable prognosis and
            promotes malignant behaviors in vitro in pancreatic cancer
  JOURNAL   Exp Cell Res 396 (2), 112317 (2020)
   PUBMED   33038351
  REMARK    GeneRIF: Ubiquitin-specific protease 4 predicts an unfavorable
            prognosis and promotes malignant behaviors in vitro in pancreatic
            cancer.
REFERENCE   6  (residues 1 to 916)
  AUTHORS   Di Donato F, Chan EK, Askanase AD, Miranda-Carus M and Buyon JP.
  TITLE     Interaction between 52 kDa SSA/Ro and deubiquitinating enzyme
            UnpEL: a clue to function
  JOURNAL   Int J Biochem Cell Biol 33 (9), 924-934 (2001)
   PUBMED   11461834
REFERENCE   7  (residues 1 to 916)
  AUTHORS   Frederick A, Rolfe M and Chiu MI.
  TITLE     The human UNP locus at 3p21.31 encodes two tissue-selective,
            cytoplasmic isoforms with deubiquitinating activity that have
            reduced expression in small cell lung carcinoma cell lines
  JOURNAL   Oncogene 16 (2), 153-165 (1998)
   PUBMED   9464533
  REMARK    Erratum:[Oncogene 1998 Apr 30;16(17):2293]
REFERENCE   8  (residues 1 to 916)
  AUTHORS   D'Andrea A and Pellman D.
  TITLE     Deubiquitinating enzymes: a new class of biological regulators
  JOURNAL   Crit Rev Biochem Mol Biol 33 (5), 337-352 (1998)
   PUBMED   9827704
  REMARK    Review article
REFERENCE   9  (residues 1 to 916)
  AUTHORS   Gray DA, Inazawa J, Gupta K, Wong A, Ueda R and Takahashi T.
  TITLE     Elevated expression of Unph, a proto-oncogene at 3p21.3, in human
            lung tumors
  JOURNAL   Oncogene 10 (11), 2179-2183 (1995)
   PUBMED   7784062
REFERENCE   10 (residues 1 to 916)
  AUTHORS   Gupta K, Chevrette M and Gray DA.
  TITLE     The Unp proto-oncogene encodes a nuclear protein
  JOURNAL   Oncogene 9 (6), 1729-1731 (1994)
   PUBMED   8183569
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG717217.1, AF017306.1,
            BC125130.1, AI887410.1, DB534804.1 and DA267618.1.
            
            Summary: The protein encoded by this gene is a protease that
            deubiquitinates target proteins such as ADORA2A and TRIM21. The
            encoded protein shuttles between the nucleus and cytoplasm and is
            involved in maintaining operational fidelity in the endoplasmic
            reticulum. Three transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (b) has the same
            N- and C-termini but is shorter compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK222725.1, AF017306.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..916
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..916
                     /product="ubiquitin carboxyl-terminal hydrolase 4 isoform
                     b"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin specific protease 4 (proto-oncogene);
                     ubiquitin carboxyl-terminal hydrolase 4; ubiquitin
                     thiolesterase 4; ubiquitin-specific processing protease 4;
                     deubiquitinating enzyme 4; ubiquitin carboxyl-terminal
                     esterase 4; ubiquitin thioesterase 4; ubiquitous nuclear
                     protein homolog; ubiquitin specific peptidase 4
                     (proto-oncogene)"
                     /calculated_mol_wt=103827
     Region          35..876
                     /region_name="UBP12"
                     /note="Ubiquitin C-terminal hydrolase [Posttranslational
                     modification, protein turnover, chaperones]; COG5560"
                     /db_xref="CDD:227847"
     CDS             1..916
                     /gene="USP4"
                     /gene_synonym="UNP; Unph"
                     /coded_by="NM_199443.3:30..2780"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS2794.1"
                     /db_xref="GeneID:7375"
                     /db_xref="HGNC:HGNC:12627"
                     /db_xref="MIM:603486"
ORIGIN      
        1 maegggcrer pdaetqksel gplmrttlqr gaqwylidsr wfkqwkkyvg fdswdmynvg
       61 ehnlfpgpid nsglfsdpes qtlkehlide ldyvlvptea wnkllnwygc vegqqpivrk
      121 vvehglfvkh ckvevyllel klcensdptn vlschfskad tiatiekemr klfnipaere
      181 trlwnkymsn tyeqlskldn tvqdaglyqg qvlviepqne dgtwprqtlq sngsgfsasy
      241 ncqeppsshi qpglcglgnl gntcfmnsal qclsntaplt dyflkdeyea einrdnplgm
      301 kgeiaeayae likqmwsgrd ahvaprmfkt qvgrfapqfs gyqqqdsqel laflldglhe
      361 dlnrvkkkpy lelkdangrp davvakeawe nhrlrndsvi vdtfhglfks tlvcpecakv
      421 svtfdpfcyl tlplplkkdr vmevflvpad phcrptqyrv tvplmgavsd lcealsrlsg
      481 iaaenmvvad vynhrfhkif qmdeglnhim prddifvyev cstsvdgsec vtlpvyfrer
      541 ksrpsstssa salygqplll svpkhkltle slyqavcdri sryvkqplpd efgssplepg
      601 acngsrnsce gedeeemehq eegkeqlset egsgedepgn dpsettqkki kgqpcpkrlf
      661 tfslvnsygt adinslaadg kllklnsrst lamdwdsetr rlyydeqese ayekhvsmlq
      721 pqkkkkttva lrdcielftt metlgehdpw ycpnckkhqq atkkfdlwsl pkilvvhlkr
      781 fsynrywrdk ldtvvefpir glnmsefvcn lsarpyvydl iavsnhygam gvghytayak
      841 nklngkwyyf ddsnvslase dqivtkaayv lfyqrrddef yktpslsssg ssdggtrpss
      901 sqqgfgddea csmdtn
//
LOCUS       NP_067071                828 aa            linear   PRI 17-APR-2022
DEFINITION  cadherin-22 precursor [Homo sapiens].
ACCESSION   NP_067071
VERSION     NP_067071.1
DBSOURCE    REFSEQ: accession NM_021248.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 828)
  AUTHORS   Kelly NJ, Varga JFA, Specker EJ, Romeo CM, Coomber BL and Uniacke
            J.
  TITLE     Hypoxia activates cadherin-22 synthesis via eIF4E2 to drive cancer
            cell migration, invasion and adhesion
  JOURNAL   Oncogene 37 (5), 651-662 (2018)
   PUBMED   28991229
  REMARK    GeneRIF: cadherin-22 is upregulated in hypoxia via
            mTORC1-independent translational control by the initiation factor
            eIF4E2 functioning as a hypoxia-specific cell-surface molecule
            involved in cancer cell migration, invasion and adhesion.
REFERENCE   2  (residues 1 to 828)
  AUTHORS   Martin-Sanchez E, Mendaza S, Ulazia-Garmendia A,
            Monreal-Santesteban I, Cordoba A, Vicente-Garcia F, Blanco-Luquin
            I, De La Cruz S, Aramendia A and Guerrero-Setas D.
  TITLE     CDH22 hypermethylation is an independent prognostic biomarker in
            breast cancer
  JOURNAL   Clin Epigenetics 9, 7 (2017)
   PUBMED   28149335
  REMARK    GeneRIF: Results present evidence that CDH22 is hypermethylated and
            its expression is downregulated in breast cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 828)
  AUTHORS   Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A,
            Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V,
            Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I,
            Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat
            JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang
            W, Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd
            PM, Hayward C, Aulchenko Y, Campbell H and Rudan I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet. 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   4  (residues 1 to 828)
  AUTHORS   Lewis JP, Palmer ND, Ellington JB, Divers J, Ng MC, Lu L, Langefeld
            CD, Freedman BI and Bowden DW.
  TITLE     Analysis of candidate genes on chromosome 20q12-13.1 reveals
            evidence for BMI mediated association of PREX1 with type 2 diabetes
            in European Americans
  JOURNAL   Genomics 96 (4), 211-219 (2010)
   PUBMED   20650312
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   5  (residues 1 to 828)
  AUTHORS   Liu Y, Zhou J, Chen J, Gao W, Le Y, Ding Y and Li J.
  TITLE     PRL-3 promotes epithelial mesenchymal transition by regulating
            cadherin directly
  JOURNAL   Cancer Biol. Ther. 8 (14), 1352-1359 (2009)
   PUBMED   19440036
  REMARK    GeneRIF: PRL-3 promoted downregulation of CDH22 expression.
REFERENCE   6  (residues 1 to 828)
  AUTHORS   Zhou J, Li J, Chen J, Liu Y, Gao W and Ding Y.
  TITLE     Over-expression of CDH22 is associated with tumor progression in
            colorectal cancer
  JOURNAL   Tumour Biol. 30 (3), 130-140 (2009)
   PUBMED   19546606
  REMARK    GeneRIF: Our results reveal for the first time a new role of CDH22
            in progression of colorectal cancer.
REFERENCE   7  (residues 1 to 828)
  AUTHORS   Bento JL, Palmer ND, Zhong M, Roh B, Lewis JP, Wing MR, Pandya H,
            Freedman BI, Langefeld CD, Rich SS, Bowden DW and Mychaleckyj JC.
  TITLE     Heterogeneity in gene loci associated with type 2 diabetes on human
            chromosome 20q13.1
  JOURNAL   Genomics 92 (4), 226-234 (2008)
   PUBMED   18602983
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 828)
  AUTHORS   Wu J, Jester WF Jr, Laslett AL, Meinhardt A and Orth JM.
  TITLE     Expression of a novel factor, short-type PB-cadherin, in Sertoli
            cells and spermatogenic stem cells of the neonatal rat testis
  JOURNAL   J. Endocrinol. 176 (3), 381-391 (2003)
   PUBMED   12630923
REFERENCE   9  (residues 1 to 828)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   10 (residues 1 to 828)
  AUTHORS   Sugimoto K, Honda S, Yamamoto T, Ueki T, Monden M, Kaji A,
            Matsumoto K and Nakamura T.
  TITLE     Molecular cloning and characterization of a newly identified member
            of the cadherin family, PB-cadherin
  JOURNAL   J. Biol. Chem. 271 (19), 11548-11556 (1996)
   PUBMED   8626716
  REMARK    GeneRIF: This paper deals primarily with the rat ortholog of the
            human CDH22 gene.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK289584.1, BC039056.1 and
            BQ102264.1.
            
            Summary: This gene is a member of the cadherin superfamily. The
            gene product is composed of five cadherin repeat domains and a
            cytoplasmic tail similar to the highly conserved cytoplasmic region
            of classical cadherins. Expressed predominantly in the brain, this
            putative calcium-dependent cell adhesion protein may play an
            important role in morphogenesis and tissue formation in neural and
            non-neural cells during development and maintenance of the brain
            and neuroendocrine organs. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK289584.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA1968832 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000537909.4/ ENSP00000437790.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..828
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     Protein         1..828
                     /product="cadherin-22 precursor"
                     /note="cadherin-like 22; ortholog of rat PB-cadherin;
                     cadherin 22, type 2; pituitary and brain cadherin"
                     /calculated_mol_wt=85553
     sig_peptide     1..34
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3556
     mat_peptide     35..828
                     /product="cadherin-22"
                     /calculated_mol_wt=85553
     Region          83..163
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Region          172..273
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(179..180,234,236,269,271..272)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          282..390
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(288..289,347,349,387,389..390)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          401..495
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(405..406,458,460,491,493..494)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          502..600
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Region          648..817
                     /region_name="Cadherin_C"
                     /note="Cadherin cytoplasmic region; pfam01049"
                     /db_xref="CDD:426014"
     CDS             1..828
                     /gene="CDH22"
                     /gene_synonym="C20orf25; dJ998H6.1"
                     /coded_by="NM_021248.3:644..3130"
                     /db_xref="CCDS:CCDS13395.1"
                     /db_xref="GeneID:64405"
                     /db_xref="HGNC:HGNC:13251"
                     /db_xref="MIM:609920"
ORIGIN      
        1 mrprpegrgl ragvalspal llllllpppp tllgrlwaag tpspsapgar qdgalgagrv
       61 krgwvwnqff vveeytgtep lyvgkihsds degdgaikyt isgegagtif lideltgdih
      121 amerldreqk tfytlraqar dratnrllep esefiikvqd indseprflh gpyigsvael
      181 sptgtsvmqv masdaddpty gssarlvysv ldgehhftvd pktgvirtav pdldresqer
      241 yevviqatdm agqlgglsgs ttvtivvtdv ndnpprfpqk myqfsiqesa pigtavgrvk
      301 aedsdvgent dmtyhlkdes ssggdvfkvt tdsdtqeaii vvqkrldfes qpvhtvilea
      361 lnkfvdprfa dlgtfrdqai vrvavtdvde ppefrppsgl levqedaqvg slvgvvtard
      421 pdaanrpvry aidresdldq ifdidadtga ivtgkgldre tagwhnitvl ameadnhaql
      481 sraslriril dvndnppela tpyeaavced akpgqliqti svvdrdepqg ghrfyfrlvp
      541 eapsnphfsl ldiqdntaav htqhvgfnrq eqdvfflpil vvdsgpptls stgtltiric
      601 gcdssgtiqs cnttafvmaa slspgalial lvcvlilvvl vlliltlrrh hkshlssded
      661 edmrdnviky ndegggeqdt eaydmsalrs lydfgelkgg dgggsaggga gggsgggags
      721 ppqahlpser hslpqgppsp epdfsvfrdf isrkvaladg dlsvppydaf qtyafegads
      781 paaslsslhs gssgseqdfa ylsswgprfr plaalyaghr gddeaqas
//
LOCUS       NP_001009905             346 aa            linear   PRI 29-OCT-2022
DEFINITION  UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like
            protein 1 isoform a [Homo sapiens].
ACCESSION   NP_001009905 NP_919264
VERSION     NP_001009905.2
DBSOURCE    REFSEQ: accession NM_001009905.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 346)
  AUTHORS   Zheng H, Li Y, Ji C, Li J, Zhang J, Yin G, Xu J, Ye X, Wu M, Zou X,
            Gu S, Xie Y and Mao Y.
  TITLE     Characterization of a cDNA encoding a protein with limited
            similarity to beta1, 3-N-acetylglucosaminyltransferase
  JOURNAL   Mol Biol Rep 31 (3), 171-175 (2004)
   PUBMED   15560372
  REMARK    GeneRIF: beta3-GnTL1 is similar to beta1,
            3-N-acetylglucosaminyltransferase
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC130371.4.
            On Jan 13, 2021 this sequence version replaced NP_001009905.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY634364.1, AY304503.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320865.4/ ENSP00000319979.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..346
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..346
                     /product="UDP-GlcNAc:betaGal
                     beta-1,3-N-acetylglucosaminyltransferase-like protein 1
                     isoform a"
                     /EC_number="2.4.1.-"
                     /note="UDP-GlcNAc:betaGal
                     beta-1,3-N-acetylglucosaminyltransferase 8;
                     UDP-GlcNAc:betaGal
                     beta-1,3-N-acetylglucosaminyltransferase-like protein 1;
                     BGnT-like protein 1; beta3Gn-T-like protein 1;
                     beta1,3-N-acetylglucosaminyltransferase-like protein 1;
                     beta-1,3-Gn-T8"
                     /calculated_mol_wt=39263
     Region          7..225
                     /region_name="beta3GnTL1_like"
                     /note="Beta 1, 3-N-acetylglucosaminyltransferase is
                     essential for the formation of poly-N-acetyllactosamine;
                     cd06913"
                     /db_xref="CDD:133063"
     CDS             1..346
                     /gene="B3GNTL1"
                     /gene_synonym="3-Gn-T8; B3GNT8; beta-1; beta3Gn-T8;
                     beta3GnTL1; BGnT-8"
                     /coded_by="NM_001009905.3:20..1060"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS32778.2"
                     /db_xref="GeneID:146712"
                     /db_xref="HGNC:HGNC:21727"
                     /db_xref="MIM:615337"
ORIGIN      
        1 mqahvsiilp vhnaepwlde clrsvlqqdf egtmelsvfn daskdksgai iekwrvkled
       61 sgvhviiggh dspsprgvgy aknqavaqss gsylcfldsd dvmmpqrvrl qheaavqhps
      121 siigcrvrrd ppnsterytr winqltpeql ltqvftsngp tvimptwfcs rawfshvgpf
      181 neggqgvped llffyehlrk gggvirvdqs lllyrhhpqa athcvletti wthrvrflee
      241 qalprwaaft iwnagkqgrr lyrsltagsq rkvvafcdvd enkirkgfyc hedsqerpkp
      301 ripilhfraa rppfvicvkl dltggafedn lrslhlqegq dflhfs
//
LOCUS       NP_071334                426 aa            linear   PRI 14-DEC-2022
DEFINITION  egl nine homolog 1 isoform 1 [Homo sapiens].
ACCESSION   NP_071334
VERSION     NP_071334.1
DBSOURCE    REFSEQ: accession NM_022051.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 426)
  AUTHORS   Song D, Peng K, Palmer BE and Lee FS.
  TITLE     The ribosomal chaperone NACA recruits PHD2 to cotranslationally
            modify HIF-alpha
  JOURNAL   EMBO J 41 (22), e112059 (2022)
   PUBMED   36219563
  REMARK    GeneRIF: The ribosomal chaperone NACA recruits PHD2 to
            cotranslationally modify HIF-alpha.
REFERENCE   2  (residues 1 to 426)
  AUTHORS   Sharma K, Mishra A, Singh H, Thinlas T and Pasha MAQ.
  TITLE     Differential methylation in EGLN1 associates with blood oxygen
            saturation and plasma protein levels in high-altitude pulmonary
            edema
  JOURNAL   Clin Epigenetics 14 (1), 123 (2022)
   PUBMED   36180894
  REMARK    GeneRIF: Differential methylation in EGLN1 associates with blood
            oxygen saturation and plasma protein levels in high-altitude
            pulmonary edema.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 426)
  AUTHORS   Feng T, Zhao X, Gu P, Yang W, Wang C, Guo Q, Long Q, Liu Q, Cheng
            Y, Li J, Cheung CKY, Wu D, Kong X, Xu Y, Ye D, Hua S, Loomes K, Xu
            A and Hui X.
  TITLE     Adipocyte-derived lactate is a signalling metabolite that
            potentiates adipose macrophage inflammation via targeting PHD2
  JOURNAL   Nat Commun 13 (1), 5208 (2022)
   PUBMED   36064857
  REMARK    GeneRIF: Adipocyte-derived lactate is a signalling metabolite that
            potentiates adipose macrophage inflammation via targeting PHD2.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 426)
  AUTHORS   Wang C, Zhang W, Xu W, Liu Z and Huang K.
  TITLE     AMP-activated protein kinase alpha1 phosphorylates PHD2 to maintain
            systemic iron homeostasis
  JOURNAL   Clin Transl Med 12 (5), e854 (2022)
   PUBMED   35538889
  REMARK    GeneRIF: AMP-activated protein kinase alpha1 phosphorylates PHD2 to
            maintain systemic iron homeostasis.
REFERENCE   5  (residues 1 to 426)
  AUTHORS   Bhattacharya S, Shrimali NM, Mohammad G, Koul PA, Prchal JT and
            Guchhait P.
  TITLE     Gain-of-function Tibetan PHD2D4E;C127S variant suppresses monocyte
            function: A lesson in inflammatory response to inspired hypoxia
  JOURNAL   EBioMedicine 68, 103418 (2021)
   PUBMED   34102396
  REMARK    GeneRIF: Gain-of-function Tibetan PHD2(D4E;C127S) variant
            suppresses monocyte function: A lesson in inflammatory response to
            inspired hypoxia.
REFERENCE   6  (residues 1 to 426)
  AUTHORS   Semenza GL.
  TITLE     HIF-1, O(2), and the 3 PHDs: how animal cells signal hypoxia to the
            nucleus
  JOURNAL   Cell 107 (1), 1-3 (2001)
   PUBMED   11595178
  REMARK    Review article
REFERENCE   7  (residues 1 to 426)
  AUTHORS   Taylor MS.
  TITLE     Characterization and comparative analysis of the EGLN gene family
  JOURNAL   Gene 275 (1), 125-132 (2001)
   PUBMED   11574160
REFERENCE   8  (residues 1 to 426)
  AUTHORS   Dupuy D, Aubert I, Duperat VG, Petit J, Taine L, Stef M, Bloch B
            and Arveiler B.
  TITLE     Mapping, characterization, and expression analysis of the SM-20
            human homologue, c1orf12, and identification of a novel related
            gene, SCAND2
  JOURNAL   Genomics 69 (3), 348-354 (2000)
   PUBMED   11056053
REFERENCE   9  (residues 1 to 426)
  AUTHORS   Dominguez O, Ashhab Y, Sabater L, Belloso E, Caro P and
            Pujol-Borrell R.
  TITLE     Cloning of ARE-containing genes by AU-motif-directed display
  JOURNAL   Genomics 54 (2), 278-286 (1998)
   PUBMED   9828130
REFERENCE   10 (residues 1 to 426)
  AUTHORS   Wax SD, Tsao L, Lieb ME, Fallon JT and Taubman MB.
  TITLE     SM-20 is a novel 40-kd protein whose expression in the arterial
            wall is restricted to smooth muscle
  JOURNAL   Lab Invest 74 (4), 797-808 (1996)
   PUBMED   8606489
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF229245.1, AL117352.12 and
            AI017372.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene catalyzes the
            post-translational formation of 4-hydroxyproline in
            hypoxia-inducible factor (HIF) alpha proteins. HIF is a
            transcriptional complex that plays a central role in mammalian
            oxygen homeostasis. This protein functions as a cellular oxygen
            sensor, and under normal oxygen concentration, modification by
            prolyl hydroxylation is a key regulatory event that targets HIF
            subunits for proteasomal destruction via the von Hippel-Lindau
            ubiquitylation complex. Mutations in this gene are associated with
            erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov
            2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ310543.1, AL833885.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366641.4/ ENSP00000355601.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..426
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.2"
     Protein         1..426
                     /product="egl nine homolog 1 isoform 1"
                     /EC_number="1.14.11.29"
                     /note="prolyl hydroxylase domain-containing protein 2;
                     zinc finger MYND domain-containing protein 6;
                     hypoxia-inducible factor prolyl hydroxylase 2; egl
                     nine-like protein 1; HIF-prolyl hydroxylase 2"
                     /calculated_mol_wt=45890
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9GZT9.1)"
     Region          6..20
                     /region_name="Required for nuclear export"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZT9.1)"
     Site            12
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9GZT9.1)"
     Region          21..58
                     /region_name="zf-MYND"
                     /note="MYND finger; pfam01753"
                     /db_xref="CDD:426410"
     Region          65..129
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZT9.1)"
     Site            125
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9GZT9.1)"
     Region          160..184
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZT9.1)"
     Region          220..391
                     /region_name="P4Hc"
                     /note="Prolyl 4-hydroxylase alpha subunit homologues;
                     smart00702"
                     /db_xref="CDD:214780"
     Region          241..251
                     /region_name="Beta(2)beta(3) 'finger-like' loop.
                     /evidence=ECO:0000269|PubMed:18063574"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZT9.1)"
     CDS             1..426
                     /gene="EGLN1"
                     /gene_synonym="C1orf12; ECYT3; HALAH; HIF-PH2; HIFPH2;
                     HPH-2; HPH2; PHD2; SM20; ZMYND6"
                     /coded_by="NM_022051.3:400..1680"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1595.1"
                     /db_xref="GeneID:54583"
                     /db_xref="HGNC:HGNC:1232"
                     /db_xref="MIM:606425"
ORIGIN      
        1 mandsggpgg pspserdrqy celcgkmenl lrcsrcrssf ycckehqrqd wkkhklvcqg
       61 segalghgvg phqhsgpapp aavpppraga reprkaaarr dnasgdaakg kvkakppadp
      121 aaaaspcraa aggqgsavaa eaepgkeepp arsslfqeka nlyppsntpg dalspggglr
      181 pngqtkplpa lklaleyivp cmnkhgicvv ddflgketgq qigdevralh dtgkftdgql
      241 vsqksdsskd irgdkitwie gkepgcetig llmssmddli rhcngklgsy kingrtkamv
      301 acypgngtgy vrhvdnpngd grcvtciyyl nkdwdakvsg gilrifpegk aqfadiepkf
      361 drllffwsdr rnphevqpay atryaitvwy fdaderarak vkyltgekgv rvelnkpsds
      421 vgkdvf
//
LOCUS       NP_689576                615 aa            linear   PRI 17-DEC-2022
DEFINITION  ankyrin repeat and LEM domain-containing protein 1 isoform 1 [Homo
            sapiens].
ACCESSION   NP_689576
VERSION     NP_689576.6
DBSOURCE    REFSEQ: accession NM_152363.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 615)
  AUTHORS   Martini R, Chen Y, Jenkins BD, Elhussin IA, Cheng E, Hoda SA,
            Ginter PS, Hanover J, Zeidan RB, Oppong JK, Adjei EK, Jibril A,
            Chitale D, Bensenhaver JM, Awuah B, Bekele M, Abebe E, Kyei I,
            Aitpillah FS, Adinku MO, Ankomah K, Osei-Bonsu EB, Nathansan SD,
            Jackson L, Jiagge E, Petersen LF, Proctor E, Nikolinakos P, Gyan
            KK, Yates C, Kittles R, Newman LA and Davis MB.
  TITLE     Investigation of triple-negative breast cancer risk alleles in an
            International African-enriched cohort
  JOURNAL   Sci Rep 11 (1), 9247 (2021)
   PUBMED   33927264
  REMARK    GeneRIF: Investigation of triple-negative breast cancer risk
            alleles in an International African-enriched cohort.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 615)
  AUTHORS   Song J, Freeman ADJ, Knebel A, Gartner A and Lilley DMJ.
  TITLE     Human ANKLE1 Is a Nuclease Specific for Branched DNA
  JOURNAL   J Mol Biol 432 (21), 5825-5834 (2020)
   PUBMED   32866453
  REMARK    GeneRIF: Human ANKLE1 Is a Nuclease Specific for Branched DNA.
REFERENCE   3  (residues 1 to 615)
  AUTHORS   Tian J, Ying P, Ke J, Zhu Y, Yang Y, Gong Y, Zou D, Peng X, Yang N,
            Wang X, Mei S, Zhang Y, Wang C, Zhong R, Chang J and Miao X.
  TITLE     ANKLE1 N6 -Methyladenosine-related variant is associated with
            colorectal cancer risk by maintaining the genomic stability
  JOURNAL   Int J Cancer 146 (12), 3281-3293 (2020)
   PUBMED   31509622
  REMARK    GeneRIF: ANKLE1 N(6) -Methyladenosine-related variant is associated
            with colorectal cancer risk by maintaining the genomic stability.
REFERENCE   4  (residues 1 to 615)
  AUTHORS   Liu Y, Walavalkar NM, Dozmorov MG, Rich SS, Civelek M and Guertin
            MJ.
  TITLE     Identification of breast cancer associated variants that modulate
            transcription factor binding
  JOURNAL   PLoS Genet 13 (9), e1006761 (2017)
   PUBMED   28957321
  REMARK    GeneRIF: We used The Cancer Genome Atlas breast cancer patient data
            to identify ANKLE1 and ZNF404 as the target genes of candidate TF
            binding site SNPs in the 19p13.11 and 19q13.31 GWAS-identified
            loci. These SNPs are associated with the expression of ZNF404 and
            ANKLE1 in breast tissue.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 615)
  AUTHORS   Hoffman JD, Graff RE, Emami NC, Tai CG, Passarelli MN, Hu D,
            Huntsman S, Hadley D, Leong L, Majumdar A, Zaitlen N, Ziv E and
            Witte JS.
  TITLE     Cis-eQTL-based trans-ethnic meta-analysis reveals novel genes
            associated with breast cancer risk
  JOURNAL   PLoS Genet 13 (3), e1006690 (2017)
   PUBMED   28362817
  REMARK    GeneRIF: Expression of RCCD1 in whole blood was also suggestively
            associated with disease risk (p-value: 1.2x10-05), as were
            expression of ACAP1 (p-value: 1.9x10-05) and LRRC25 (p-value:
            5.2x10-05). While genome-wide association studies (GWAS) have
            implicated RCCD1 and ANKLE1 in breast cancer risk, they have not
            identified the remaining three genes
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 615)
  AUTHORS   Brachner A, Braun J, Ghodgaonkar M, Castor D, Zlopasa L, Ehrlich V,
            Jiricny J, Gotzmann J, Knasmuller S and Foisner R.
  TITLE     The endonuclease Ankle1 requires its LEM and GIY-YIG motifs for DNA
            cleavage in vivo
  JOURNAL   J Cell Sci 125 (Pt 4), 1048-1057 (2012)
   PUBMED   22399800
  REMARK    GeneRIF: Ankle1 is conserved in metazoans and contains a unique
            C-terminal GIY-YIG motif that confers endonuclease activity in
            vitro and in vivo
REFERENCE   7  (residues 1 to 615)
  AUTHORS   Bolton KL, Tyrer J, Song H, Ramus SJ, Notaridou M, Jones C, Sher T,
            Gentry-Maharaj A, Wozniak E, Tsai YY, Weidhaas J, Paik D, Van Den
            Berg DJ, Stram DO, Pearce CL, Wu AH, Brewster W, Anton-Culver H,
            Ziogas A, Narod SA, Levine DA, Kaye SB, Brown R, Paul J, Flanagan
            J, Sieh W, McGuire V, Whittemore AS, Campbell I, Gore ME, Lissowska
            J, Yang HP, Medrek K, Gronwald J, Lubinski J, Jakubowska A, Le ND,
            Cook LS, Kelemen LE, Brooks-Wilson A, Massuger LF, Kiemeney LA,
            Aben KK, van Altena AM, Houlston R, Tomlinson I, Palmieri RT,
            Moorman PG, Schildkraut J, Iversen ES, Phelan C, Vierkant RA,
            Cunningham JM, Goode EL, Fridley BL, Kruger-Kjaer S, Blaeker J,
            Hogdall E, Hogdall C, Gross J, Karlan BY, Ness RB, Edwards RP,
            Odunsi K, Moyisch KB, Baker JA, Modugno F, Heikkinenen T, Butzow R,
            Nevanlinna H, Leminen A, Bogdanova N, Antonenkova N, Doerk T,
            Hillemanns P, Durst M, Runnebaum I, Thompson PJ, Carney ME, Goodman
            MT, Lurie G, Wang-Gohrke S, Hein R, Chang-Claude J, Rossing MA,
            Cushing-Haugen KL, Doherty J, Chen C, Rafnar T, Besenbacher S,
            Sulem P, Stefansson K, Birrer MJ, Terry KL, Hernandez D, Cramer DW,
            Vergote I, Amant F, Lambrechts D, Despierre E, Fasching PA,
            Beckmann MW, Thiel FC, Ekici AB, Chen X, Johnatty SE, Webb PM,
            Beesley J, Chanock S, Garcia-Closas M, Sellers T, Easton DF,
            Berchuck A, Chenevix-Trench G, Pharoah PD and Gayther SA.
  CONSRTM   Australian Ovarian Cancer Study Group; Australian Cancer Study
            (Ovarian Cancer); Ovarian Cancer Association Consortium
  TITLE     Common variants at 19p13 are associated with susceptibility to
            ovarian cancer
  JOURNAL   Nat Genet 42 (10), 880-884 (2010)
   PUBMED   20852633
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Erratum:[Nat Genet. 2016 Jan;48(1):101. Brook-Wilson, Angela
            [corrected to Brooks-Wilson, Angela]. PMID: 26711112]
REFERENCE   8  (residues 1 to 615)
  AUTHORS   Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R,
            Sinilnikova OM, Healey S, Morrison J, Kartsonaki C, Lesnick T,
            Ghoussaini M, Barrowdale D, Peock S, Cook M, Oliver C, Frost D,
            Eccles D, Evans DG, Eeles R, Izatt L, Chu C, Douglas F, Paterson J,
            Stoppa-Lyonnet D, Houdayer C, Mazoyer S, Giraud S, Lasset C,
            Remenieras A, Caron O, Hardouin A, Berthet P, Hogervorst FB, Rookus
            MA, Jager A, van den Ouweland A, Hoogerbrugge N, van der Luijt RB,
            Meijers-Heijboer H, Gomez Garcia EB, Devilee P, Vreeswijk MP,
            Lubinski J, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Gorski
            B, Cybulski C, Spurdle AB, Holland H, Goldgar DE, John EM, Hopper
            JL, Southey M, Buys SS, Daly MB, Terry MB, Schmutzler RK,
            Wappenschmidt B, Engel C, Meindl A, Preisler-Adams S, Arnold N,
            Niederacher D, Sutter C, Domchek SM, Nathanson KL, Rebbeck T, Blum
            JL, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J,
            Blank SV, Friedman E, Kaufman B, Laitman Y, Milgrom R, Andrulis IL,
            Glendon G, Ozcelik H, Kirchhoff T, Vijai J, Gaudet MM, Altshuler D,
            Guiducci C, Loman N, Harbst K, Rantala J, Ehrencrona H, Gerdes AM,
            Thomassen M, Sunde L, Peterlongo P, Manoukian S, Bonanni B, Viel A,
            Radice P, Caldes T, de la Hoya M, Singer CF, Fink-Retter A, Greene
            MH, Mai PL, Loud JT, Guidugli L, Lindor NM, Hansen TV, Nielsen FC,
            Blanco I, Lazaro C, Garber J, Ramus SJ, Gayther SA, Phelan C, Narod
            S, Szabo CI, Benitez J, Osorio A, Nevanlinna H, Heikkinen T, Caligo
            MA, Beattie MS, Hamann U, Godwin AK, Montagna M, Casella C,
            Neuhausen SL, Karlan BY, Tung N, Toland AE, Weitzel J, Olopade O,
            Simard J, Soucy P, Rubinstein WS, Arason A, Rennert G, Martin NG,
            Montgomery GW, Chang-Claude J, Flesch-Janys D, Brauch H, Severi G,
            Baglietto L, Cox A, Cross SS, Miron P, Gerty SM, Tapper W,
            Yannoukakos D, Fountzilas G, Fasching PA, Beckmann MW, Dos Santos
            Silva I, Peto J, Lambrechts D, Paridaens R, Rudiger T, Forsti A,
            Winqvist R, Pylkas K, Diasio RB, Lee AM, Eckel-Passow J, Vachon C,
            Blows F, Driver K, Dunning A, Pharoah PP, Offit K, Pankratz VS,
            Hakonarson H, Chenevix-Trench G, Easton DF and Couch FJ.
  CONSRTM   EMBRACE; GEMO Study Collaborators; HEBON; kConFab; SWE-BRCA; MOD
            SQUAD; GENICA
  TITLE     A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation
            carriers and is associated with hormone receptor-negative breast
            cancer in the general population
  JOURNAL   Nat Genet 42 (10), 885-892 (2010)
   PUBMED   20852631
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association and gene-gene interaction. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 615)
  AUTHORS   Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML and Seielstad M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (residues 1 to 615)
  AUTHORS   Lee KK and Wilson KL.
  TITLE     All in the family: evidence for four new LEM-domain proteins Lem2
            (NET-25), Lem3, Lem4 and Lem5 in the human genome
  JOURNAL   Symp Soc Exp Biol (56), 329-339 (2004)
   PUBMED   15565891
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK303628.1, AK096688.1 and AC010463.6.
            On Nov 9, 2018 this sequence version replaced NP_689576.5.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.280551.1,
                                           SRR1163657.66042.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149004, SAMEA2154529
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000404085.7/ ENSP00000384008.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..615
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     Protein         1..615
                     /product="ankyrin repeat and LEM domain-containing protein
                     1 isoform 1"
                     /note="LEM domain containing 6; ankyrin repeat and LEM
                     domain-containing protein 1; LEM-domain containing 3;
                     ankyrin repeat domain-containing protein 41"
                     /calculated_mol_wt=66759
     Region          39..71
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAG6.2)"
     Region          56..128
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          75..106
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          75..104
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAG6.2)"
     Region          108..137
                     /region_name="ANK 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAG6.2)"
     Region          138..210
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAG6.2)"
     Region          271..280
                     /region_name="Nuclear export signal.
                     /evidence=ECO:0000269|PubMed:27245214"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAG6.2)"
     Region          283..315
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAG6.2)"
     Region          361..398
                     /region_name="LEM_ANKL1"
                     /note="LEM (Lap2/Emerin/Man1) domain found in ankyrin
                     repeat and LEM domain-containing protein 1 (ANKL1);
                     cd12943"
                     /db_xref="CDD:240590"
     Site            order(363..364,376..381,383..384,387..388,390..391)
                     /site_type="other"
                     /note="putative polypeptide substrate binding site
                     [polypeptide binding]"
                     /db_xref="CDD:240590"
     Region          450..565
                     /region_name="GIY-YIG_COG3680_Meta"
                     /note="GIY-YIG domain of hypothetical proteins from
                     Metazoa; cd10454"
                     /db_xref="CDD:198401"
     Site            order(451..453,486..488)
                     /site_type="other"
                     /note="GIY-YIG motif/motif A"
                     /db_xref="CDD:198401"
     Site            order(453,486,488..489,494,498,551,565)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:198401"
     Site            551
                     /site_type="other"
                     /note="putative metal binding site [ion binding]"
                     /db_xref="CDD:198401"
     Region          579..586
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000269|PubMed:27245214"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAG6.2)"
     CDS             1..615
                     /gene="ANKLE1"
                     /gene_synonym="ANKRD41; LEM3; LEMD6"
                     /coded_by="NM_152363.6:21..1868"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS12354.4"
                     /db_xref="GeneID:126549"
                     /db_xref="HGNC:HGNC:26812"
                     /db_xref="MIM:619348"
ORIGIN      
        1 mcsearlarr lrdalreeep waveellrcg adpnlvledg aaavhlaaga rhprglrclg
       61 allrqggdpn arsvealtpl hvaaawgcrr glelllsqga dpalrdqdgl rpldlalqqg
      121 hlecarvlqd ldtrtrtrtr igaetqepep apgtpglsgp tdetldsial qkqpcrgdnr
      181 digleadpgp pslpvpletv dkhgssaspp ghwdyssdas fvtavevsga edpasdtppw
      241 agslpptrqg llhvvhanqr vprsqgteae lnarlqaltl tppnaagfqs spssmplldr
      301 spahspprtp tpgasdchcl wehqtsidsd matlwltede asstggrepv gpcrhlpvst
      361 vsdlellkgl ralgenphpi tpftrqlyhq qleeaqiapg pefsghslel aaalrtgcip
      421 dvqadedala qqfeqpdpar rwregvvkss ftyllldpre tqdlparafs ltpaerlqtf
      481 iraifyvgkg trarpyvhlw ealghhgrsr kqphqacpkv rqildiwasg cgvvslhcfq
      541 hvvaveaytr eacivealgi qtltnqkqgh cygvvagwpp arrrrlgvhl lhrallvfla
      601 egerqlhpqd iqarg
//
LOCUS       NP_001313310             116 aa            linear   PRI 18-DEC-2022
DEFINITION  heme-binding protein 2 isoform 3 [Homo sapiens].
ACCESSION   NP_001313310
VERSION     NP_001313310.1
DBSOURCE    REFSEQ: accession NM_001326381.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 116)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 116)
  AUTHORS   Mikasa T, Kugo M, Nishimura S, Taketani S, Ishijima S and Sagami I.
  TITLE     Thermodynamic Characterization of the Ca2+-Dependent Interaction
            Between SOUL and ALG-2
  JOURNAL   Int J Mol Sci 19 (12), 3802 (2018)
   PUBMED   30501057
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 116)
  AUTHORS   Qin J, Yang Y, Gao S, Liu Y, Yu F, Zhou Y, Lyu R, Liu M, Liu X, Li
            D and Zhou J.
  TITLE     Deregulated ALG-2/HEBP2 axis alters microtubule dynamics and
            mitotic spindle behavior to stimulate cancer development
  JOURNAL   J Cell Physiol 232 (11), 3067-3076 (2017)
   PUBMED   28004381
  REMARK    GeneRIF: The gene copy numbers and mRNA levels for both ALG-2 and
            HEBP2 are significantly upregulated in breast and lung cancer.
            Coexpression of ALG-2 and HEBP2 markedly increases the cytoplasmic
            pool of ALG-2 and alters the subcellular distribution of HEBP2.
            Abnormalities in the ALG-2/HEBP2 interaction impairs spindle
            orientation and positioning during mitosis.
REFERENCE   4  (residues 1 to 116)
  AUTHORS   Ma J, Zhang X, Feng Y, Zhang H, Wang X, Zheng Y, Qiao W and Liu X.
  TITLE     Structural and Functional Study of Apoptosis-linked
            Gene-2.Heme-binding Protein 2 Interactions in HIV-1 Production
  JOURNAL   J Biol Chem 291 (52), 26670-26685 (2016)
   PUBMED   27784779
REFERENCE   5  (residues 1 to 116)
  AUTHORS   Ambrosi E, Capaldi S, Bovi M, Saccomani G, Perduca M and Monaco HL.
  TITLE     Structural changes in the BH3 domain of SOUL protein upon
            interaction with the anti-apoptotic protein Bcl-xL
  JOURNAL   Biochem J 438 (2), 291-301 (2011)
   PUBMED   21639858
  REMARK    GeneRIF: There are important structural differences in the BH3
            domain in the intact SOUL molecule and the same sequence bound to
            Bcl-xL.
REFERENCE   6  (residues 1 to 116)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (residues 1 to 116)
  AUTHORS   Szigeti A, Bellyei S, Gasz B, Boronkai A, Hocsak E, Minik O, Bognar
            Z, Varbiro G, Sumegi B and Gallyas F Jr.
  TITLE     Induction of necrotic cell death and mitochondrial permeabilization
            by heme binding protein 2/SOUL
  JOURNAL   FEBS Lett 580 (27), 6447-6454 (2006)
   PUBMED   17098234
  REMARK    GeneRIF: SOUL promotes necrotic cell death by inducing
            mitochondrial permeability transition
REFERENCE   8  (residues 1 to 116)
  AUTHORS   Liu L and McKeehan WL.
  TITLE     Sequence analysis of LRPPRC and its SEC1 domain interaction
            partners suggests roles in cytoskeletal organization, vesicular
            trafficking, nucleocytosolic shuttling, and chromosome activity
  JOURNAL   Genomics 79 (1), 124-136 (2002)
   PUBMED   11827465
REFERENCE   9  (residues 1 to 116)
  AUTHORS   Zylka MJ and Reppert SM.
  TITLE     Discovery of a putative heme-binding protein family (SOUL/HBP) by
            two-tissue suppression subtractive hybridization and database
            searches
  JOURNAL   Brain Res Mol Brain Res 74 (1-2), 175-181 (1999)
   PUBMED   10640688
REFERENCE   10 (residues 1 to 116)
  AUTHORS   Bohn H and Winckler W.
  TITLE     Isolation and characterization of five new soluble placental tissue
            proteins (PP22, PP23, PP24, PP25, PP26)
  JOURNAL   Arch Gynecol Obstet 248 (3), 111-115 (1991)
   PUBMED   2018407
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031003.1 and AL391669.11.
            
            Summary: The protein encoded by this gene is found predominately in
            the cytoplasm, where it plays a role in the collapse of
            mitochondrial membrane potential (MMP) prior to necrotic cell
            death. The encoded protein enhances outer and inner mitochondrial
            membrane permeabilization, especially under conditions of oxidative
            stress. [provided by RefSeq, May 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.353284.1, BF974311.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..116
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.1"
     Protein         1..116
                     /product="heme-binding protein 2 isoform 3"
                     /note="placental protein 23"
                     /calculated_mol_wt=12518
     Region          20..>110
                     /region_name="SOUL"
                     /note="SOUL heme-binding protein; pfam04832"
                     /db_xref="CDD:428150"
     CDS             1..116
                     /gene="HEBP2"
                     /gene_synonym="C6orf34; C6ORF34B; PP23; SOUL"
                     /coded_by="NM_001326381.2:274..624"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS87448.1"
                     /db_xref="GeneID:23593"
                     /db_xref="HGNC:HGNC:15716"
                     /db_xref="MIM:605825"
ORIGIN      
        1 maeplqpdpg aaedaaaqav etpgwkaped agpqpgsyei rhygpakwvs tsvesmdwds
       61 aiqtgftkln syiqgkneke mkikmtapvt syvepgsgpf slsmdflvpk riknnf
//
LOCUS       NP_001171679             837 aa            linear   PRI 19-DEC-2022
DEFINITION  SLIT and NTRK-like protein 4 precursor [Homo sapiens].
ACCESSION   NP_001171679
VERSION     NP_001171679.1
DBSOURCE    REFSEQ: accession NM_001184750.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 837)
  AUTHORS   Kuo FC, Huang YC, Yen MR, Lee CH, Hsu KF, Yang HY, Wu LW, Lu CH,
            Hsu YJ and Chen PY.
  TITLE     Aberrant overexpression of HOTAIR inhibits abdominal adipogenesis
            through remodelling of genome-wide DNA methylation and
            transcription
  JOURNAL   Mol Metab 60, 101473 (2022)
   PUBMED   35292404
  REMARK    GeneRIF: Aberrant overexpression of HOTAIR inhibits abdominal
            adipogenesis through remodelling of genome-wide DNA methylation and
            transcription.
REFERENCE   2  (residues 1 to 837)
  AUTHORS   Yim YS, Kwon Y, Nam J, Yoon HI, Lee K, Kim DG, Kim E, Kim CH and Ko
            J.
  TITLE     Slitrks control excitatory and inhibitory synapse formation with
            LAR receptor protein tyrosine phosphatases
  JOURNAL   Proc Natl Acad Sci U S A 110 (10), 4057-4062 (2013)
   PUBMED   23345436
REFERENCE   3  (residues 1 to 837)
  AUTHORS   Haakensen VD, Bjoro T, Luders T, Riis M, Bukholm IK, Kristensen VN,
            Troester MA, Homen MM, Ursin G, Borresen-Dale AL and Helland A.
  TITLE     Serum estradiol levels associated with specific gene expression
            patterns in normal breast tissue and in breast carcinomas
  JOURNAL   BMC Cancer 11, 332 (2011)
   PUBMED   21812955
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 837)
  AUTHORS   Loset M, Mundal SB, Johnson MP, Fenstad MH, Freed KA, Lian IA, Eide
            IP, Bjorge L, Blangero J, Moses EK and Austgulen R.
  TITLE     A transcriptional profile of the decidua in preeclampsia
  JOURNAL   Am J Obstet Gynecol 204 (1), 84 (2011)
   PUBMED   20934677
REFERENCE   5  (residues 1 to 837)
  AUTHORS   Aruga J, Yokota N and Mikoshiba K.
  TITLE     Human SLITRK family genes: genomic organization and expression
            profiling in normal brain and brain tumor tissue
  JOURNAL   Gene 315, 87-94 (2003)
   PUBMED   14557068
REFERENCE   6  (residues 1 to 837)
  AUTHORS   Aruga J and Mikoshiba K.
  TITLE     Identification and characterization of Slitrk, a novel neuronal
            transmembrane protein family controlling neurite outgrowth
  JOURNAL   Mol Cell Neurosci 24 (1), 117-129 (2003)
   PUBMED   14550773
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC239921.3.
            
            Summary: This gene encodes a transmembrane protein belonging to the
            the SLITRK family. These family members include two N-terminal
            leucine-rich repeat domains similar to those found in the axonal
            growth-controlling protein SLIT, as well as C-terminal regions
            similar to neurotrophin receptors. Studies of an homologous protein
            in mouse suggest that this family member functions to suppress
            neurite outgrowth. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK315044.1, SRR1803612.158140.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145544
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..837
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq27.3"
     Protein         1..837
                     /product="SLIT and NTRK-like protein 4 precursor"
                     /note="slit and trk like gene 4"
                     /calculated_mol_wt=92309
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2041
     mat_peptide     19..837
                     /product="SLIT and NTRK-like protein 4.
                     /evidence=ECO:0000255. /id=PRO_0000032679"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IW52.1)"
                     /calculated_mol_wt=92309
     Region          60..81
                     /region_name="LRR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IW52.1)"
     Region          63..84
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Site            81
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8IW52.1)"
     Region          83..143
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          84..105
                     /region_name="LRR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IW52.1)"
     Region          85..108
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          108..129
                     /region_name="LRR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IW52.1)"
     Region          109..132
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          132..190
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          132..153
                     /region_name="LRR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IW52.1)"
     Region          133..156
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          156..177
                     /region_name="LRR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IW52.1)"
     Region          157..179
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          179..200
                     /region_name="LRR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IW52.1)"
     Region          180..204
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          205..295
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          213..>253
                     /region_name="LRRCT"
                     /note="Leucine rich repeat C-terminal domain; smart00082"
                     /db_xref="CDD:214507"
     Region          296..371
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Site            325
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8IW52.1)"
     Region          372..402
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <376..>532
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:227223"
     Region          378..399
                     /region_name="LRR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IW52.1)"
     Region          402..461
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          402..423
                     /region_name="LRR 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IW52.1)"
     Region          403..426
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          426..447
                     /region_name="LRR 9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IW52.1)"
     Region          427..450
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          450..471
                     /region_name="LRR 10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IW52.1)"
     Region          451..472
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          474..495
                     /region_name="LRR 11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IW52.1)"
     Region          475..496
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          497..518
                     /region_name="LRR 12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IW52.1)"
     Region          498..522
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          531..>563
                     /region_name="TPKR_C2"
                     /note="Tyrosine-protein kinase receptor C2 Ig-like domain;
                     cl15307"
                     /db_xref="CDD:449528"
     Site            619..639
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IW52.1)"
     CDS             1..837
                     /gene="SLITRK4"
                     /coded_by="NM_001184750.2:227..2740"
                     /db_xref="CCDS:CCDS14679.1"
                     /db_xref="GeneID:139065"
                     /db_xref="HGNC:HGNC:23502"
                     /db_xref="MIM:300562"
ORIGIN      
        1 mflwlflils alisstnads disveicnvc scvsvenvly vncekvsvyr pnqlkppwsn
       61 fyhlnfqnnf lnilypntfl nfshavslhl gnnklqnieg gaflglsalk qlhlnnnelk
      121 ilradtflgi enleylqady nlikyierga fnklhklkvl ilndnlisfl pdnifrfasl
      181 thldirgnri qklpyigvle higrvvelql ednpwncscd llplkawlen mpyniyigea
      241 icetpsdlyg rllketnkqe lcpmgtgsdf dvrilppsql engyttpngh ttqtslhrlv
      301 tkppkttnps kisgivagka lsnrnlsqiv syqtrvpplt pcpapcfckt hpsdlglsvn
      361 cqekniqsms elipkplnak klhvngnsik dvdvsdftdf egldllhlgs nqitvikgdv
      421 fhnltnlrrl ylngnqierl ypeifsglhn lqylyleynl ikeisagtfd smpnlqllyl
      481 nnnllkslpv yifsgaplar lnlrnnkfmy lpvsgvldql qsltqidleg npwdctcdlv
      541 alklwvekls dgivvkelkc etpvqfanie lkslkneilc pkllnkpsap ftspapaitf
      601 ttplgpirsp pggpvplsil ilsilvvlil tvfvafcllv fvlrrnkkpt vkheglgnpd
      661 cgsmqlqlrk hdhktnkkdg lsteafipqt ieqmskshtc glkesetgfm fsdppgqkvv
      721 mrnvadkekd llhvdtrkrl stideldelf psrdsnvfiq nfleskkeyn sigvsgfeir
      781 ypekqpdkks kksliggnhs kivveqrkse yfelkaklqs spdylqvlee qtalnki
//
LOCUS       NP_001185685              69 aa            linear   PRI 23-DEC-2022
DEFINITION  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2
            [Homo sapiens].
ACCESSION   NP_001185685
VERSION     NP_001185685.1
DBSOURCE    REFSEQ: accession NM_001198756.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 69)
  AUTHORS   Khater M, Bryant CN and Wu G.
  TITLE     Gbetagamma translocation to the Golgi apparatus activates ARF1 to
            spatiotemporally regulate G protein-coupled receptor signaling to
            MAPK
  JOURNAL   J Biol Chem 296, 100805 (2021)
   PUBMED   34022220
  REMARK    GeneRIF: Gbetagamma translocation to the Golgi apparatus activates
            ARF1 to spatiotemporally regulate G protein-coupled receptor
            signaling to MAPK.
REFERENCE   2  (residues 1 to 69)
  AUTHORS   Dong Z, Ma Y, Zhou H, Shi L, Ye G, Yang L, Liu P and Zhou L.
  TITLE     Integrated genomics analysis highlights important SNPs and genes
            implicated in moderate-to-severe asthma based on GWAS and eQTL
            datasets
  JOURNAL   BMC Pulm Med 20 (1), 270 (2020)
   PUBMED   33066754
  REMARK    GeneRIF: Integrated genomics analysis highlights important SNPs and
            genes implicated in moderate-to-severe asthma based on GWAS and
            eQTL datasets.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 69)
  AUTHORS   Liu GM, Ji X, Lu TC, Duan LW, Jia WY, Liu Y, Sun ML and Luo YG.
  TITLE     Comprehensive multi-omics analysis identified core molecular
            processes in esophageal cancer and revealed GNGT2 as a potential
            prognostic marker
  JOURNAL   World J Gastroenterol 25 (48), 6890-6901 (2019)
   PUBMED   31908393
  REMARK    GeneRIF: Survival analysis showed that G protein subunit gamma
            transducin 2 (GNGT2) was closely related to survival of esophageal
            cancer. Expression of GNGT2 was evaluated by quantitative real time
            polymerase chain reaction, and the results showed that GNGT2
            expression was significantly upregulated in esophageal cancer
            patient samples and cell lines, and that GNGT2 could promote the
            proliferation of esophageal cancer cell lines.
REFERENCE   4  (residues 1 to 69)
  AUTHORS   Blanquart S, Borowiec AS, Delcourt P, Figeac M, Emerling CA,
            Meseguer AS, Roudbaraki M, Prevarskaya N and Bidaux G.
  TITLE     Evolution of the human cold/menthol receptor, TRPM8
  JOURNAL   Mol Phylogenet Evol 136, 104-118 (2019)
   PUBMED   30980935
REFERENCE   5  (residues 1 to 69)
  AUTHORS   Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA,
            Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J,
            Jugurnauth-Little S, Dadaev T, Neal DE, Hamdy FC, Donovan JL, Muir
            K, Giles GG, Severi G, Wiklund F, Gronberg H, Haiman CA, Schumacher
            F, Henderson BE, Le Marchand L, Lindstrom S, Kraft P, Hunter DJ,
            Gapstur S, Chanock SJ, Berndt SI, Albanes D, Andriole G, Schleutker
            J, Weischer M, Canzian F, Riboli E, Key TJ, Travis RC, Campa D,
            Ingles SA, John EM, Hayes RB, Pharoah PD, Pashayan N, Khaw KT,
            Stanford JL, Ostrander EA, Signorello LB, Thibodeau SN, Schaid D,
            Maier C, Vogel W, Kibel AS, Cybulski C, Lubinski J, Cannon-Albright
            L, Brenner H, Park JY, Kaneva R, Batra J, Spurdle AB, Clements JA,
            Teixeira MR, Dicks E, Lee A, Dunning AM, Baynes C, Conroy D,
            Maranian MJ, Ahmed S, Govindasami K, Guy M, Wilkinson RA, Sawyer
            EJ, Morgan A, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker
            CC, Van As NJ, Woodhouse CJ, Thompson A, Dudderidge T, Ogden C,
            Cooper CS, Lophatananon A, Cox A, Southey MC, Hopper JL, English
            DR, Aly M, Adolfsson J, Xu J, Zheng SL, Yeager M, Kaaks R, Diver
            WR, Gaudet MM, Stern MC, Corral R, Joshi AD, Shahabi A, Wahlfors T,
            Tammela TL, Auvinen A, Virtamo J, Klarskov P, Nordestgaard BG,
            Roder MA, Nielsen SF, Bojesen SE, Siddiq A, Fitzgerald LM, Kolb S,
            Kwon EM, Karyadi DM, Blot WJ, Zheng W, Cai Q, McDonnell SK,
            Rinckleb AE, Drake B, Colditz G, Wokolorczyk D, Stephenson RA,
            Teerlink C, Muller H, Rothenbacher D, Sellers TA, Lin HY, Slavov C,
            Mitev V, Lose F, Srinivasan S, Maia S, Paulo P, Lange E, Cooney KA,
            Antoniou AC, Vincent D, Bacot F, Tessier DC, Kote-Jarai Z and
            Easton DF.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391e3912 (2013)
   PUBMED   23535732
REFERENCE   6  (residues 1 to 69)
  AUTHORS   Yang M, He RL, Benovic JL and Ye RD.
  TITLE     beta-Arrestin1 interacts with the G-protein subunits beta1gamma2
            and promotes beta1gamma2-dependent Akt signalling for NF-kappaB
            activation
  JOURNAL   Biochem J 417 (1), 287-296 (2009)
   PUBMED   18729826
  REMARK    GeneRIF: Results identify novel functions of beta-arrestin1 in
            binding to the beta1gamma2 subunits of heterotrimeric G-proteins
            and promoting G(betagamma)-mediated Akt signalling for NF-kappaB
            activation.
REFERENCE   7  (residues 1 to 69)
  AUTHORS   Huang L, Shanker YG, Dubauskaite J, Zheng JZ, Yan W, Rosenzweig S,
            Spielman AI, Max M and Margolskee RF.
  TITLE     Ggamma13 colocalizes with gustducin in taste receptor cells and
            mediates IP3 responses to bitter denatonium
  JOURNAL   Nat Neurosci 2 (12), 1055-1062 (1999)
   PUBMED   10570481
REFERENCE   8  (residues 1 to 69)
  AUTHORS   Ong OC, Hu K, Rong H, Lee RH and Fung BK.
  TITLE     Gene structure and chromosome localization of the G gamma c subunit
            of human cone G-protein (GNGT2)
  JOURNAL   Genomics 44 (1), 101-109 (1997)
   PUBMED   9286705
REFERENCE   9  (residues 1 to 69)
  AUTHORS   Huang CL, Jan YN and Jan LY.
  TITLE     Binding of the G protein betagamma subunit to multiple regions of G
            protein-gated inward-rectifying K+ channels
  JOURNAL   FEBS Lett 405 (3), 291-298 (1997)
   PUBMED   9108307
REFERENCE   10 (residues 1 to 69)
  AUTHORS   Cohen NA, Sha Q, Makhina EN, Lopatin AN, Linder ME, Snyder SH and
            Nichols CG.
  TITLE     Inhibition of an inward rectifier potassium channel (Kir2.3) by
            G-protein betagamma subunits
  JOURNAL   J Biol Chem 271 (50), 32301-32305 (1996)
   PUBMED   8943291
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM723861.1, AC069454.22 and
            BU742490.1.
            
            Summary: Phototransduction in rod and cone photoreceptors is
            regulated by groups of signaling proteins. The encoded protein is
            thought to play a crucial role in cone phototransduction. It
            belongs to the G protein gamma family and localized specifically in
            cones. Several transcript variants encoding the same protein have
            been found for this gene. [provided by RefSeq, Nov 2010].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. All four variants encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BM723861.1, SRR1803614.236879.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..69
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     Protein         1..69
                     /product="guanine nucleotide-binding protein
                     G(I)/G(S)/G(O) subunit gamma-T2"
                     /note="gamma-T2 subunit; G protein cone gamma 8 subunit;
                     guanine nucleotide binding protein gamma 9; G-gamma-9; g
                     gamma-C; guanine nucleotide binding protein gamma
                     transducing activity polypeptide 2; guanine nucleotide
                     binding protein (G protein), gamma transducing activity
                     polypeptide 2; heterotrimeric guanine nucleotide-binding
                     protein 3I"
                     /calculated_mol_wt=7616
     Region          8..69
                     /region_name="GGL"
                     /note="G protein gamma subunit-like motifs; smart00224"
                     /db_xref="CDD:128520"
     Site            order(8,11,15,18,22,27,29,32..33,36..37,40,49..50,60)
                     /site_type="other"
                     /note="beta subunit binding site [polypeptide binding]"
                     /db_xref="CDD:238024"
     Site            66
                     /site_type="methylation"
                     /note="Cysteine methyl ester. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (O14610.1)"
     CDS             1..69
                     /gene="GNGT2"
                     /gene_synonym="G-GAMMA-8; G-GAMMA-C; GNG9; GNGT8; HG3I"
                     /coded_by="NM_001198756.1:181..390"
                     /db_xref="CCDS:CCDS11545.1"
                     /db_xref="GeneID:2793"
                     /db_xref="HGNC:HGNC:4412"
                     /db_xref="MIM:139391"
ORIGIN      
        1 maqdlsekdl lkmeveqlkk evkntripis kagkeikeyv eaqagndpfl kgipedknpf
       61 kekggclis
//
LOCUS       NP_001269845             845 aa            linear   PRI 24-DEC-2022
DEFINITION  DNA repair-scaffolding protein isoform 2 [Homo sapiens].
ACCESSION   NP_001269845 XP_005251249
VERSION     NP_001269845.1
DBSOURCE    REFSEQ: accession NM_001282916.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 845)
  AUTHORS   Heddar A, Guichoux N, Auger N and Misrahi M.
  TITLE     A SPIDR homozygous nonsense pathogenic variant in isolated primary
            ovarian insufficiency with chromosomal instability
  JOURNAL   Clin Genet 101 (2), 242-246 (2022)
   PUBMED   34697795
  REMARK    GeneRIF: A SPIDR homozygous nonsense pathogenic variant in isolated
            primary ovarian insufficiency with chromosomal instability.
REFERENCE   2  (residues 1 to 845)
  AUTHORS   Martino J, Brunette GJ, Barroso-Gonzalez J, Moiseeva TN, Smith CM,
            Bakkenist CJ, O'Sullivan RJ and Bernstein KA.
  TITLE     The human Shu complex functions with PDS5B and SPIDR to promote
            homologous recombination
  JOURNAL   Nucleic Acids Res 47 (19), 10151-10165 (2019)
   PUBMED   31665741
  REMARK    GeneRIF: our study uncovers a protein complex, which consists of
            SWS1, SWSAP1, SPIDR and PDS5B, involved in DNA repair and provides
            insight into Shu complex function and composition.
REFERENCE   3  (residues 1 to 845)
  AUTHORS   Smirin-Yosef P, Zuckerman-Levin N, Tzur S, Granot Y, Cohen L,
            Sachsenweger J, Borck G, Lagovsky I, Salmon-Divon M, Wiesmuller L
            and Basel-Vanagaite L.
  TITLE     A Biallelic Mutation in the Homologous Recombination Repair Gene
            SPIDR Is Associated With Human Gonadal Dysgenesis
  JOURNAL   J Clin Endocrinol Metab 102 (2), 681-688 (2017)
   PUBMED   27967308
  REMARK    GeneRIF: A biallelic mutation in SPIDR may be associated with
            ovarian dysgenesis in cases of autosomal recessive inheritance.
            Erratum:[J Clin Endocrinol Metab. 2018 Jan 1;103(1):364. PMID:
            29126114]
REFERENCE   4  (residues 1 to 845)
  AUTHORS   Brueckner LM, Hess EM, Schwab M and Savelyeva L.
  TITLE     Instability at the FRA8I common fragile site disrupts the genomic
            integrity of the KIAA0146, CEBPD and PRKDC genes in colorectal
            cancer
  JOURNAL   Cancer Lett 336 (1), 85-95 (2013)
   PUBMED   23603433
  REMARK    GeneRIF: The FRA8I fragile site includes KIAA0146, CEBPD and PRKDC
            and may have a role in colorectal cancer
REFERENCE   5  (residues 1 to 845)
  AUTHORS   Yuan J and Chen J.
  TITLE     FIGNL1-containing protein complex is required for efficient
            homologous recombination repair
  JOURNAL   Proc Natl Acad Sci U S A 110 (26), 10640-10645 (2013)
   PUBMED   23754376
  REMARK    GeneRIF: KIAA0146 is also known as scaffolding protein involved in
            DNA repair (SPIDR), as a binding partner of FIGNL1 and established
            that KIAA0146/SPIDR acts with FIGNL1 in homologous recombination
            repair
REFERENCE   6  (residues 1 to 845)
  AUTHORS   Wan L, Han J, Liu T, Dong S, Xie F, Chen H and Huang J.
  TITLE     Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome
            helicase with homologous recombination repair
  JOURNAL   Proc Natl Acad Sci U S A 110 (26), 10646-10651 (2013)
   PUBMED   23509288
  REMARK    GeneRIF: Consistent with its role as a scaffolding protein for the
            assembly of BLM and RAD51 foci, cells depleted of SPIDR show
            increased rate of sister chromatid exchange and defects in
            homologous recombination repair.
REFERENCE   7  (residues 1 to 845)
  AUTHORS   Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Heard-Costa N, Lohman
            K, Johnson AD, Foster MC, Greenawalt DM, Griffin P, Ding J, Newman
            AB, Tylavsky F, Miljkovic I, Kritchevsky SB, Launer L, Garcia M,
            Eiriksdottir G, Carr JJ, Gudnason V, Harris TB, Cupples LA and
            Borecki IB.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
REFERENCE   8  (residues 1 to 845)
  AUTHORS   Tang BS, Chan KH, Cheng VC, Woo PC, Lau SK, Lam CC, Chan TL, Wu AK,
            Hung IF, Leung SY and Yuen KY.
  TITLE     Comparative host gene transcription by microarray analysis early
            after infection of the Huh7 cell line by severe acute respiratory
            syndrome coronavirus and human coronavirus 229E
  JOURNAL   J Virol 79 (10), 6180-6193 (2005)
   PUBMED   15858003
REFERENCE   9  (residues 1 to 845)
  AUTHORS   Lee YW, Eum SY, Chen KC, Hennig B and Toborek M.
  TITLE     Gene expression profile in interleukin-4-stimulated human vascular
            endothelial cells
  JOURNAL   Mol Med 10 (1-6), 19-27 (2004)
   PUBMED   15502879
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC233269.2, AK294275.1, AC023991.9 and BM981420.1.
            On Sep 21, 2013 this sequence version replaced XP_005251249.1.
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            5' coding region which results in the use of a downstream start
            codon, compred to variant 1. The encoded isoform (2) is shorter and
            has a distinct N-terminus, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.219784.1,
                                           SRR1803611.167335.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..845
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q11.21"
     Protein         1..845
                     /product="DNA repair-scaffolding protein isoform 2"
                     /note="DNA repair-scaffolding protein; scaffolding protein
                     involved in DNA repair"
                     /calculated_mol_wt=92740
     Region          <25..299
                     /region_name="DUF4502"
                     /note="Domain of unknown function (DUF4502); pfam14950"
                     /db_xref="CDD:434340"
     Region          451..835
                     /region_name="DUF4503"
                     /note="Domain of unknown function (DUF4503); pfam14951"
                     /db_xref="CDD:434341"
     CDS             1..845
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /coded_by="NM_001282916.1:225..2762"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS64891.1"
                     /db_xref="GeneID:23514"
                     /db_xref="HGNC:HGNC:28971"
                     /db_xref="MIM:615384"
ORIGIN      
        1 maqvwrrvse hfwesettts kstsgltdit wsssgsdlsd edktlsqlqr delqfidwei
       61 dsdraeasdc defeddegav eisdcascas nqsltsdekl selpkpssie ileyssdsek
      121 eddlenvlli dsesphkyhv qfasdarqim erlidprtks tetilhtpqk ptakfprtpe
      181 nsakkkllrg glaerlnglq nrersaislw rhqcisyqkt lsgrksgvlt vkilelheec
      241 amqvamceql lgspatsssq svaprpgagl kvlftketag ylrgrpqdtv rifppwqkli
      301 ipsgscpvil ntyfcekvva kedsektcev ycpdiplprr sislaqmfvi kgltnnspei
      361 qvvcsgvatt gtawthghke akqriptstp lrdslldvve sqgaaswpga gvrvvvqrvy
      421 slpsrdstrg qqgassghtd pagtracllv qdacgmfgev hleftmskar qlegkscslv
      481 gmkvlqkvtr grtagifsli dtlwppaipl ktpgrdqpce eikthlpppa lcyiltahpn
      541 lgqidiided piyklyqppv trclrdilqm ndlgtrcsfy atviyqkpql kslllleqre
      601 iwllvtdvtl qtkeerdprl pktllvyvap lcvlgsevle alagaaphsl ffkdalrdqg
      661 rivcaertvl llqkpllsvv sgasscelpg pvmldsldsa tpvnsicsvq gtvvgvdest
      721 afswpvcdmc gngrleqrpe drgafscgdc srvvtspvlk rhlqvfldcr srpqcrvkvk
      781 llqrsissll rfaagedgsy evksvlgkev gllncfvqsv tahptscigl eeiellsagg
      841 asaeh
//
LOCUS       NP_056082               1486 aa            linear   PRI 24-DEC-2022
DEFINITION  homeobox protein cut-like 2 isoform 1 [Homo sapiens].
ACCESSION   NP_056082 XP_027045
VERSION     NP_056082.2
DBSOURCE    REFSEQ: accession NM_015267.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1486)
  AUTHORS   Li L, Zhu G, Tan K, Jiang L, Li Y, Zhu X, Lin Z, Zhang X, Chen J
            and Ma C.
  TITLE     CUX2/KDM5B/SOX17 Axis Affects the Occurrence and Development of
            Breast Cancer
  JOURNAL   Endocrinology 163 (9) (2022)
   PUBMED   35881915
  REMARK    GeneRIF: CUX2/KDM5B/SOX17 Axis Affects the Occurrence and
            Development of Breast Cancer.
            Erratum:[Endocrinology. 2022 Nov 14;164(1):. PMID: 36527259]
REFERENCE   2  (residues 1 to 1486)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (residues 1 to 1486)
  AUTHORS   Chen IC, Kuo PH, Yang AC, Tsai SJ, Liu TH, Liu HJ, Lan TH, Chen HM,
            Huang HN, Chung RH and Liu YL.
  TITLE     CUX2, BRAP and ALDH2 are associated with metabolic traits in people
            with excessive alcohol consumption
  JOURNAL   Sci Rep 10 (1), 18118 (2020)
   PUBMED   33093602
  REMARK    GeneRIF: CUX2, BRAP and ALDH2 are associated with metabolic traits
            in people with excessive alcohol consumption.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1486)
  AUTHORS   Pan H, Yang M, Lu L, Tao B, He X, Chen H, Yi H and Tang S.
  TITLE     Association of FAM65B, AGBL4, and CUX2 genetic polymorphisms with
            susceptibility to antituberculosis drug-induced hepatotoxicity:
            validation study in a Chinese Han population
  JOURNAL   Pharmacogenet Genomics 29 (4), 84-90 (2019)
   PUBMED   30720667
  REMARK    GeneRIF: this is the first study to explore and validate the
            relationships between seven SNPs in the FAM65B, AGBL4, and CUX2
            genes and ATDH in a Chinese population. On the basis of this
            case-control study, SNP rs10946737 in FAM65B may be associated with
            susceptibility to ATDH in Chinese Han anti-TB treatment patients.
REFERENCE   5  (residues 1 to 1486)
  AUTHORS   Barington M, Risom L, Ek J, Uldall P and Ostergaard E.
  TITLE     A recurrent de novo CUX2 missense variant associated with
            intellectual disability, seizures, and autism spectrum disorder
  JOURNAL   Eur J Hum Genet 26 (9), 1388-1391 (2018)
   PUBMED   29795476
  REMARK    GeneRIF: De novo variant c.1768G>A; p.(Glu590Lys) in CUX2 was
            identifies in a patient with intellectual disability, seizures, and
            autism spectrum disorder.
REFERENCE   6  (residues 1 to 1486)
  AUTHORS   Glaser B, Kirov G, Green E, Craddock N and Owen MJ.
  TITLE     Linkage disequilibrium mapping of bipolar affective disorder at
            12q23-q24 provides evidence for association at CUX2 and FLJ32356
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 132B (1), 38-45 (2005)
   PUBMED   15389760
REFERENCE   7  (residues 1 to 1486)
  AUTHORS   Jacobsen NJ, Elvidge G, Franks EK, O'Donovan MC, Craddock N and
            Owen MJ.
  TITLE     CUX2, a potential regulator of NCAM expression: genomic
            characterization and analysis as a positional candidate
            susceptibility gene for bipolar disorder
  JOURNAL   Am J Med Genet 105 (3), 295-300 (2001)
   PUBMED   11353453
REFERENCE   8  (residues 1 to 1486)
  AUTHORS   Coqueret O, Martin N, Berube G, Rabbat M, Litchfield DW and Nepveu
            A.
  TITLE     DNA binding by cut homeodomain proteins is down-modulated by casein
            kinase II
  JOURNAL   J Biol Chem 273 (5), 2561-2566 (1998)
   PUBMED   9446557
REFERENCE   9  (residues 1 to 1486)
  AUTHORS   Ohara O, Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N and
            Nomura N.
  TITLE     Construction and characterization of human brain cDNA libraries
            suitable for analysis of cDNA clones encoding relatively large
            proteins
  JOURNAL   DNA Res 4 (1), 53-59 (1997)
   PUBMED   9179496
REFERENCE   10 (residues 1 to 1486)
  AUTHORS   Quaggin SE, Heuvel GB, Golden K, Bodmer R and Igarashi P.
  TITLE     Primary structure, neural-specific expression, and chromosomal
            localization of Cux-2, a second murine homeobox gene related to
            Drosophila cut
  JOURNAL   J Biol Chem 271 (37), 22624-22634 (1996)
   PUBMED   8798433
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC151245.1 and AC005805.12.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 24, 2006 this sequence version replaced NP_056082.1.
            
            Summary: This gene encodes a protein which contains three CUT
            domains and a homeodomain; both domains are DNA-binding motifs. A
            similar gene, whose gene product possesses different DNA-binding
            activities, is located on chromosome on chromosome 7. Two
            pseudogenes of this gene have been identified on chromosomes 10 and
            4. [provided by RefSeq, Jan 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC151245.1, AB006631.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144120, SAMEA2145313
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261726.11/ ENSP00000261726.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1486
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11-q24.12"
     Protein         1..1486
                     /product="homeobox protein cut-like 2 isoform 1"
                     /note="homeobox protein cut-like 2; homeobox protein
                     cux-2"
                     /calculated_mol_wt=161547
     Region          <17..>269
                     /region_name="PRK03918"
                     /note="DNA double-strand break repair ATPase Rad50"
                     /db_xref="CDD:235175"
     Region          114..167
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14529.4)"
     Site            143
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O14529.4)"
     Region          <173..370
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          415..481
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14529.4)"
     Region          517..549
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14529.4)"
     Region          553..625
                     /region_name="CUT"
                     /note="CUT domain; pfam02376"
                     /db_xref="CDD:426745"
     Region          661..690
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14529.4)"
     Region          716..758
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14529.4)"
     Region          800..858
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14529.4)"
     Region          892..965
                     /region_name="CUT"
                     /note="CUT domain; pfam02376"
                     /db_xref="CDD:426745"
     Region          964..1032
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14529.4)"
     Region          1043..1119
                     /region_name="CUT"
                     /note="CUT domain; pfam02376"
                     /db_xref="CDD:426745"
     Site            order(1169..1173,1175,1192,1198,1211,1213..1214,
                     1217..1218,1220..1222,1224..1225)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          1171..1224
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     Site            order(1171,1174,1214,1217..1218,1221)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          1231..1453
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14529.4)"
     CDS             1..1486
                     /gene="CUX2"
                     /gene_synonym="CDP2; CUTL2; DEE67; EIEE67"
                     /coded_by="NM_015267.4:14..4474"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS41837.1"
                     /db_xref="GeneID:23316"
                     /db_xref="HGNC:HGNC:19347"
                     /db_xref="MIM:610648"
ORIGIN      
        1 maanvgsmfq ywkrfdlrrl qkelnsvase lsarqeeseh shkhlielrr efkknvpeei
       61 remvapvlks fqaevvalsk rsqeaeaafl svykqlieap dpvpvfeaar slddrlqpps
      121 fdpsgqprrd lhtswkrnpe llspkeqreg tspagptlte gsrlpgipgk alltetllqr
      181 neaekqkglq evqitlaarl geaeekikvl hsalkatqae llelrrkyde eaaskadevg
      241 limtnlekan qraeaaqrev eslreqlasv nssirlaccs pqgpsgdkvn ftlcsgprle
      301 aalaskdrei lrllkdvqhl qsslqeleea sanqiadler qltakseaie kleeklqaqs
      361 dyeeiktels ilkamklass tcslpqgmak pedslliake affptqkfll ekpsllaspe
      421 edpseddsik dslgteqsyp spqqlppppg pedplspspg qpllgpslgp dgtrtfslsp
      481 fpslasgerl mmppaafkge aggllvfppa fygakpptap atpapgpepl ggpepadggg
      541 ggaagpgaee eqldtaeiaf qvkeqllkhn igqrvfghyv lglsqgsvse ilarpkpwrk
      601 ltvkgkepfi kmkqflsdeq nvlalrtiqv rqrgsitpri rtpetgsdda iksileqakk
      661 eiesqkggep ktsvaplsia ngttpastse daiksileqa rremqaqqqa llemevaprg
      721 rsvppspper pslatasqng apalvkqeeg sggpaqaplp vlspaafvqs iirkvkseig
      781 dagyfdhhwa sdrgllsrpy asvspslsss sssgysgqpn grawprgdea pvppedeaaa
      841 gaedepprtg elkaegatae agarlpyypa yvprtlkptv ppltpeqyel ymyrevdtle
      901 ltrqvkekla kngicqrifg ekvlglsqgs vsdmlsrpkp wskltqkgre pfirmqlwls
      961 dqlgqavgqq pgasqaspte prsspsppps ptepekssqe plslslessk enqqpegrss
     1021 sslsgkmysg sqapggiqei vamspeldty sitkrvkevl tdnnlgqrlf gesilgltqg
     1081 svsdllsrpk pwhklslkgr epfvrmqlwl ndphnveklr dmkklekkay lkrryglist
     1141 gsdsespatr secpspclqp qdlsllqikk prvvlapeek ealrkayqle pypsqqtiel
     1201 lsfqlnlktn tvinwfhnyr srmrremlve gtqdepdldp sggpgilppg hshpdptpqs
     1261 pdsetedqkp tvkelelqeg peenstpltt qdkaqvrikq eqmeedaeee agsqpqdsge
     1321 ldkgqgppke ehpdppgndg lpkvapgpll pggstpdcps lhpqqeseag erlhpdplsf
     1381 ksasessrcs levslnspsa asspglmmsv spvpsssapi spsppgappa kvpsasptad
     1441 magalhpsak vnpnlqrrhe kmanlnniiy rveraanree alewef
//
LOCUS       NP_001020371             263 aa            linear   PRI 24-DEC-2022
DEFINITION  chymotrypsinogen B2 precursor [Homo sapiens].
ACCESSION   NP_001020371 XP_496169
VERSION     NP_001020371.3
DBSOURCE    REFSEQ: accession NM_001025200.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 263)
  AUTHORS   Nemeth BZ, Demcsak A, Micsonai A, Kiss B, Schlosser G, Geisz A,
            Hegyi E, Sahin-Toth M and Pal G.
  TITLE     Arg236 in human chymotrypsin B2 (CTRB2) is a key determinant of
            high enzyme activity, trypsinogen degradation capacity, and
            protection against pancreatitis
  JOURNAL   Biochim Biophys Acta Proteins Proteom 1870 (9), 140831 (2022)
   PUBMED   35934298
  REMARK    GeneRIF: Arg236 in human chymotrypsin B2 (CTRB2) is a key
            determinant of high enzyme activity, trypsinogen degradation
            capacity, and protection against pancreatitis.
REFERENCE   2  (residues 1 to 263)
  AUTHORS   Jermusyk A, Zhong J, Connelly KE, Gordon N, Perera S, Abdolalizadeh
            E, Zhang T, O'Brien A, Hoskins JW, Collins I, Eiser D, Yuan C,
            Risch HA, Jacobs EJ, Li D, Du M, Stolzenberg-Solomon RZ, Klein AP,
            Smith JP, Wolpin BM, Chanock SJ, Shi J, Petersen GM, Westlake CJ
            and Amundadottir LT.
  CONSRTM   PanScan Consortium; PanC4 Consortium
  TITLE     A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and
            secretion and confers risk of pancreatic cancer
  JOURNAL   Am J Hum Genet 108 (10), 1852-1865 (2021)
   PUBMED   34559995
  REMARK    GeneRIF: A 584 bp deletion in CTRB2 inhibits chymotrypsin B2
            activity and secretion and confers risk of pancreatic cancer.
REFERENCE   3  (residues 1 to 263)
  AUTHORS   Seltsam K, Pentner C, Weigl F, Sutedjo S, Zimmer C, Beer S, Bugert
            P, Ewers M, Ruffert C, Michl P, Laumen H, Witt H and Rosendahl J.
  TITLE     Sequencing of the complex CTRB1-CTRB2 locus in chronic pancreatitis
  JOURNAL   Pancreatology 20 (8), 1598-1603 (2020)
   PUBMED   33036922
  REMARK    GeneRIF: Sequencing of the complex CTRB1-CTRB2 locus in chronic
            pancreatitis.
REFERENCE   4  (residues 1 to 263)
  AUTHORS   Rosendahl J, Kirsten H, Hegyi E, Kovacs P, Weiss FU, Laumen H,
            Lichtner P, Ruffert C, Chen JM, Masson E, Beer S, Zimmer C, Seltsam
            K, Algul H, Buhler F, Bruno MJ, Bugert P, Burkhardt R, Cavestro GM,
            Cichoz-Lach H, Farre A, Frank J, Gambaro G, Gimpfl S, Grallert H,
            Griesmann H, Grutzmann R, Hellerbrand C, Hegyi P, Hollenbach M,
            Iordache S, Jurkowska G, Keim V, Kiefer F, Krug S, Landt O, Leo MD,
            Lerch MM, Levy P, Loffler M, Lohr M, Ludwig M, Macek M, Malats N,
            Malecka-Panas E, Malerba G, Mann K, Mayerle J, Mohr S, Te Morsche
            RHM, Motyka M, Mueller S, Muller T, Nothen MM, Pedrazzoli S,
            Pereira SP, Peters A, Pfutzer R, Real FX, Rebours V, Ridinger M,
            Rietschel M, Rosmann E, Saftoiu A, Schneider A, Schulz HU, Soranzo
            N, Soyka M, Simon P, Skipworth J, Stickel F, Strauch K, Stumvoll M,
            Testoni PA, Tonjes A, Werner L, Werner J, Wodarz N, Ziegler M,
            Masamune A, Mossner J, Ferec C, Michl P, P H Drenth J, Witt H,
            Scholz M and Sahin-Toth M.
  CONSRTM   all members of the PanEuropean Working group on ACP
  TITLE     Genome-wide association study identifies inversion in the
            CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic
            chronic pancreatitis
  JOURNAL   Gut 67 (10), 1855-1863 (2018)
   PUBMED   28754779
  REMARK    GeneRIF: An inversion in the CTRB1-CTRB2 locus modifies risk for
            Alcoholic and Non-alcoholic Chronic Pancreatitis indicating that
            common pathomechanisms are involved in these inflammatory
            disorders.
REFERENCE   5  (residues 1 to 263)
  AUTHORS   Tang XY, Zou WB, Masson E, Hu LH, Ferec C, Chen JM, Li ZS and Liao
            Z.
  TITLE     The CTRB1-CTRB2 risk allele for chronic pancreatitis discovered in
            European populations does not contribute to disease risk variation
            in the Chinese population due to near allele fixation
  JOURNAL   Gut 67 (7), 1368-1369 (2018)
   PUBMED   28951524
REFERENCE   6  (residues 1 to 263)
  AUTHORS   Wolpin BM, Rizzato C, Kraft P, Kooperberg C, Petersen GM, Wang Z,
            Arslan AA, Beane-Freeman L, Bracci PM, Buring J, Canzian F, Duell
            EJ, Gallinger S, Giles GG, Goodman GE, Goodman PJ, Jacobs EJ,
            Kamineni A, Klein AP, Kolonel LN, Kulke MH, Li D, Malats N, Olson
            SH, Risch HA, Sesso HD, Visvanathan K, White E, Zheng W, Abnet CC,
            Albanes D, Andreotti G, Austin MA, Barfield R, Basso D, Berndt SI,
            Boutron-Ruault MC, Brotzman M, Buchler MW, Bueno-de-Mesquita HB,
            Bugert P, Burdette L, Campa D, Caporaso NE, Capurso G, Chung C,
            Cotterchio M, Costello E, Elena J, Funel N, Gaziano JM, Giese NA,
            Giovannucci EL, Goggins M, Gorman MJ, Gross M, Haiman CA, Hassan M,
            Helzlsouer KJ, Henderson BE, Holly EA, Hu N, Hunter DJ, Innocenti
            F, Jenab M, Kaaks R, Key TJ, Khaw KT, Klein EA, Kogevinas M, Krogh
            V, Kupcinskas J, Kurtz RC, LaCroix A, Landi MT, Landi S, Le
            Marchand L, Mambrini A, Mannisto S, Milne RL, Nakamura Y, Oberg AL,
            Owzar K, Patel AV, Peeters PH, Peters U, Pezzilli R, Piepoli A,
            Porta M, Real FX, Riboli E, Rothman N, Scarpa A, Shu XO, Silverman
            DT, Soucek P, Sund M, Talar-Wojnarowska R, Taylor PR,
            Theodoropoulos GE, Thornquist M, Tjonneland A, Tobias GS,
            Trichopoulos D, Vodicka P, Wactawski-Wende J, Wentzensen N, Wu C,
            Yu H, Yu K, Zeleniuch-Jacquotte A, Hoover R, Hartge P, Fuchs C,
            Chanock SJ, Stolzenberg-Solomon RS and Amundadottir LT.
  TITLE     Genome-wide association study identifies multiple susceptibility
            loci for pancreatic cancer
  JOURNAL   Nat Genet 46 (9), 994-1000 (2014)
   PUBMED   25086665
REFERENCE   7  (residues 1 to 263)
  AUTHORS   Hou DX, Ozawa K, Tomita N, Maeda Y, Hashiguchi T, Yokoyama K and
            Soeda E.
  TITLE     Genomic cloning and partial characterization of human
            chymotrypsinogen gene
  JOURNAL   Jpn J Hum Genet 38 (4), 371-380 (1993)
   PUBMED   8186414
REFERENCE   8  (residues 1 to 263)
  AUTHORS   Tomita N, Izumoto Y, Horii A, Doi S, Yokouchi H, Ogawa M, Mori T
            and Matsubara K.
  TITLE     Molecular cloning and nucleotide sequence of human pancreatic
            prechymotrypsinogen cDNA
  JOURNAL   Biochem Biophys Res Commun 158 (2), 569-575 (1989)
   PUBMED   2917002
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK225933.1.
            On Nov 30, 2006 this sequence version replaced NP_001020371.2.
            
            Summary: This gene encodes a member of the serine protease family
            of enzymes and forms a principal precursor of the pancreatic
            proteolytic enzymes. The encoded preproprotein is synthesized in
            the acinar cells of the pancreas and secreted into the small
            intestine where it undergoes proteolytic activation to generate a
            functional enzyme. This CTRB2 gene is located head-to-head with the
            related CTRB1 gene. Some human populations have an alternate
            haplotype which inverts a 16.6 Kb region containing portions of
            intron 1, exon 1, and the upstream sequence of the CTRB1 and CTRB2
            genes. In this inversion haplotype exon 1 and flanking sequence is
            swapped in CTRB1 and CTRB2. This inversion is associated with
            differential gene expression and increased risk for chronic
            pancreatitis. The GRCh38 assembly represents the minor allele for
            SNP rs8048956 of the CTRB1 gene. SNP rs8048956 is diagnostic for
            this inversion. [provided by RefSeq, Jan 2021].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK225933.1, AK291822.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142586, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303037.13/ ENSP00000303963.8
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..263
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q23.1"
     Protein         1..263
                     /product="chymotrypsinogen B2 precursor"
                     /EC_number="3.4.21.1"
                     /note="chymotrypsin B2"
                     /calculated_mol_wt=25911
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2030
     mat_peptide     19..263
                     /product="Chymotrypsinogen B2. /id=PRO_0000285870"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GPI1.2)"
                     /calculated_mol_wt=25911
     mat_peptide     19..31
                     /product="Chymotrypsin B2 chain A. /id=PRO_0000285871"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GPI1.2)"
                     /calculated_mol_wt=1263
     Region          34..259
                     /region_name="Tryp_SPc"
                     /note="Trypsin-like serine protease; Many of these are
                     synthesized as inactive precursor zymogens that are
                     cleaved during limited proteolysis to generate their
                     active forms. Alignment contains also inactive enzymes
                     that have substitutions of the catalytic triad...;
                     cd00190"
                     /db_xref="CDD:238113"
     mat_peptide     34..164
                     /product="Chymotrypsin B2 chain B. /id=PRO_0000285872"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GPI1.2)"
                     /calculated_mol_wt=14049
     Site            34
                     /site_type="active"
                     /note="cleavage site [active]"
                     /db_xref="CDD:238113"
     Site            order(75,120,213)
                     /site_type="active"
                     /db_xref="CDD:238113"
     mat_peptide     167..263
                     /product="Chymotrypsin B2 chain C. /id=PRO_0000285873"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GPI1.2)"
                     /calculated_mol_wt=10207
     Site            order(207,232,234)
                     /site_type="other"
                     /note="substrate binding sites [chemical binding]"
                     /db_xref="CDD:238113"
     CDS             1..263
                     /gene="CTRB2"
                     /coded_by="NM_001025200.4:21..812"
                     /db_xref="CCDS:CCDS32489.1"
                     /db_xref="GeneID:440387"
                     /db_xref="HGNC:HGNC:2522"
                     /db_xref="MIM:619620"
ORIGIN      
        1 maflwllscw allgttfgcg vpaihpvlsg lsrivngeda vpgswpwqvs lqdktgfhfc
       61 ggslisedwv vtaahcgvrt sdvvvagefd qgsdeeniqv lkiakvfknp kfsiltvnnd
      121 itllklatpa rfsqtvsavc lpsadddfpa gtlcattgwg ktkynanktp dklqqaalpl
      181 lsnaeckksw grritdvmic agasgvsscm gdsggplvcq kdgawtlvgi vswgsrtcst
      241 ttpavyarva klipwvqkil aan
//
LOCUS       NP_001351759             232 aa            linear   PRI 25-DEC-2022
DEFINITION  periphilin-1 isoform 17 [Homo sapiens].
ACCESSION   NP_001351759
VERSION     NP_001351759.1
DBSOURCE    REFSEQ: accession NM_001364830.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 232)
  AUTHORS   Prigozhin DM, Douse CH, Farleigh LE, Albecka A, Tchasovnikarova IA,
            Timms RT, Oda SI, Adolf F, Freund SMV, Maslen S, Lehner PJ and
            Modis Y.
  TITLE     Periphilin self-association underpins epigenetic silencing by the
            HUSH complex
  JOURNAL   Nucleic Acids Res 48 (18), 10313-10328 (2020)
   PUBMED   32976585
  REMARK    GeneRIF: Periphilin self-association underpins epigenetic silencing
            by the HUSH complex.
REFERENCE   2  (residues 1 to 232)
  AUTHORS   Tchasovnikarova IA, Timms RT, Douse CH, Roberts RC, Dougan G,
            Kingston RE, Modis Y and Lehner PJ.
  TITLE     Hyperactivation of HUSH complex function by Charcot-Marie-Tooth
            disease mutation in MORC2
  JOURNAL   Nat Genet 49 (7), 1035-1044 (2017)
   PUBMED   28581500
REFERENCE   3  (residues 1 to 232)
  AUTHORS   Timms RT, Tchasovnikarova IA and Lehner PJ.
  TITLE     Position-effect variegation revisited: HUSHing up heterochromatin
            in human cells
  JOURNAL   Bioessays 38 (4), 333-343 (2016)
   PUBMED   26853531
  REMARK    GeneRIF: The haploid screen identified HUSH, an epigenetic
            heterochromatin repressor complex composed of three subunits,
            TASOR, MPP8 and Periphilin. (Review)
            Review article
REFERENCE   4  (residues 1 to 232)
  AUTHORS   Tchasovnikarova IA, Timms RT, Matheson NJ, Wals K, Antrobus R,
            Gottgens B, Dougan G, Dawson MA and Lehner PJ.
  TITLE     GENE SILENCING. Epigenetic silencing by the HUSH complex mediates
            position-effect variegation in human cells
  JOURNAL   Science 348 (6242), 1481-1485 (2015)
   PUBMED   26022416
  REMARK    GeneRIF: this study identified the HUSH (human silencing hub)
            complex, comprising three poorly characterized proteins, TASOR,
            MPP8, and periphilin; this complex is absent from Drosophila but is
            conserved from fish to humans.
REFERENCE   5  (residues 1 to 232)
  AUTHORS   Sia D, Losic B, Moeini A, Cabellos L, Hao K, Revill K, Bonal D,
            Miltiadous O, Zhang Z, Hoshida Y, Cornella H, Castillo-Martin M,
            Pinyol R, Kasai Y, Roayaie S, Thung SN, Fuster J, Schwartz ME,
            Waxman S, Cordon-Cardo C, Schadt E, Mazzaferro V and Llovet JM.
  TITLE     Massive parallel sequencing uncovers actionable FGFR2-PPHLN1 fusion
            and ARAF mutations in intrahepatic cholangiocarcinoma
  JOURNAL   Nat Commun 6, 6087 (2015)
   PUBMED   25608663
  REMARK    GeneRIF: analysis of FGFR2-PPHLN1 fusion and ARAF mutations in
            intrahepatic cholangiocarcinoma
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 232)
  AUTHORS   Kurita M, Suzuki H, Masai H, Mizumoto K, Ogata E, Nishimoto I, Aiso
            S and Matsuoka M.
  TITLE     Overexpression of CR/periphilin downregulates Cdc7 expression and
            induces S-phase arrest
  JOURNAL   Biochem Biophys Res Commun 324 (2), 554-561 (2004)
   PUBMED   15474462
  REMARK    GeneRIF: CR (periphilin) retards S-phase progression by modifying
            expression of Cdc7 and other genes involved in progression of DNA
            replication
REFERENCE   7  (residues 1 to 232)
  AUTHORS   Goehler H, Lalowski M, Stelzl U, Waelter S, Stroedicke M, Worm U,
            Droege A, Lindenberg KS, Knoblich M, Haenig C, Herbst M, Suopanki
            J, Scherzinger E, Abraham C, Bauer B, Hasenbank R, Fritzsche A,
            Ludewig AH, Bussow K, Coleman SH, Gutekunst CA, Landwehrmeyer BG,
            Lehrach H and Wanker EE.
  TITLE     A protein interaction network links GIT1, an enhancer of huntingtin
            aggregation, to Huntington's disease
  JOURNAL   Mol Cell 15 (6), 853-865 (2004)
   PUBMED   15383276
  REMARK    Erratum:[Mol Cell. 2005 Jul 22;19(2):287. Buessow, Konrad
            [corrected to Bussow, Konrad]]
REFERENCE   8  (residues 1 to 232)
  AUTHORS   Kazerounian S and Aho S.
  TITLE     Characterization of periphilin, a widespread, highly insoluble
            nuclear protein and potential constituent of the keratinocyte
            cornified envelope
  JOURNAL   J Biol Chem 278 (38), 36707-36717 (2003)
   PUBMED   12853457
  REMARK    GeneRIF: periphilin is potentially involved in epithelial
            differentiation and contributes to epidermal integrity and barrier
            formation
REFERENCE   9  (residues 1 to 232)
  AUTHORS   Kazerounian S, Uitto J and Aho S.
  TITLE     Unique role for the periplakin tail in intermediate filament
            association: specific binding to keratin 8 and vimentin
  JOURNAL   Exp Dermatol 11 (5), 428-438 (2002)
   PUBMED   12366696
REFERENCE   10 (residues 1 to 232)
  AUTHORS   Line A, Stengrevics A, Slucka Z, Li G, Jankevics E and Rees RC.
  TITLE     Serological identification and expression analysis of gastric
            cancer-associated genes
  JOURNAL   Br J Cancer 86 (11), 1824-1830 (2002)
   PUBMED   12087473
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079684.16 and AC079601.25.
            
            Summary: The protein encoded by this gene is one of the several
            proteins that become sequentially incorporated into the cornified
            cell envelope during the terminal differentiation of keratinocyte
            at the outer layers of epidermis. This protein interacts with
            periplakin, which is known as a precursor of the cornified cell
            envelope. The cellular localization pattern and insolubility of
            this protein suggest that it may play a role in epithelial
            differentiation and contribute to epidermal integrity and barrier
            formation. Multiple alternatively spliced transcript variants
            encoding distinct isoforms have been observed. [provided by RefSeq,
            Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.214405.1,
                                           SRR3476690.882707.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..232
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
     Protein         1..232
                     /product="periphilin-1 isoform 17"
                     /note="gastric cancer antigen Ga50; CDC7 expression
                     repressor"
                     /calculated_mol_wt=26575
     Region          211..>230
                     /region_name="Lge1_periphilin-like"
                     /note="Eukaryotic transcriptional regulatory protein Lge1,
                     periphilin, and similar proteins; cl13008"
                     /db_xref="CDD:448781"
     CDS             1..232
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /coded_by="NM_001364830.2:84..782"
                     /note="isoform 17 is encoded by transcript variant 17"
                     /db_xref="GeneID:51535"
                     /db_xref="HGNC:HGNC:19369"
                     /db_xref="MIM:608150"
ORIGIN      
        1 mwsegryeye riprerappr shpsdesgyr wtrddhsasr qpeyrdmrdg frrksfyssh
       61 yarerspykr dntffrespv grkdsphsrs gssvssrsys persksysfh qsqhrnkerp
      121 vqslktsrdt spssgsavss skvldkpsrl tekelaeaas kwaaekleks desnlpeise
      181 yeagstaplf tdqpeepesn tthgielfed sqlttrskai asktkeieqv rv
//
LOCUS       NP_060779                684 aa            linear   PRI 25-DEC-2022
DEFINITION  TBC1 domain family member 23 isoform 2 [Homo sapiens].
ACCESSION   NP_060779
VERSION     NP_060779.2
DBSOURCE    REFSEQ: accession NM_018309.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 684)
  AUTHORS   Zhang Y, Su H, Wudu M, Ren H, Xu Y, Zhang Q, Jiang J, Wang Q, Jiang
            X, Zhang B, Liu Z, Zou Z and Qiu X.
  TITLE     TBC1 domain family member 23 interacts with Ras-related protein
            Rab-11A to promote poor prognosis of non-small-cell lung cancer via
            beta1-integrin
  JOURNAL   J Cell Mol Med 25 (18), 8821-8835 (2021)
   PUBMED   34363324
  REMARK    GeneRIF: TBC1 domain family member 23 interacts with Ras-related
            protein Rab-11A to promote poor prognosis of non-small-cell lung
            cancer via beta1-integrin.
REFERENCE   2  (residues 1 to 684)
  AUTHORS   Liu D, Yang F, Liu Z, Wang J, Huang W, Meng W, Billadeau DD, Sun Q,
            Mo X and Jia D.
  TITLE     Structure of TBC1D23 N-terminus reveals a novel role for rhodanese
            domain
  JOURNAL   PLoS Biol 18 (5), e3000746 (2020)
   PUBMED   32453802
  REMARK    GeneRIF: rhodanese domain packs against the TBC domain and forms
            part of the platform to interact with golgin-97/245
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 684)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 684)
  AUTHORS   Huang W, Liu Z, Yang F, Zhou H, Yong X, Yang X, Zhou Y, Xue L,
            Zhang Y, Liu D, Meng W, Zhang W, Zhang X, Shen X, Sun Q, Li L, Ma
            C, Wei Y, Billadeau DD, Mo X and Jia D.
  TITLE     Structural and functional studies of TBC1D23 C-terminal domain
            provide a link between endosomal trafficking and PCH
  JOURNAL   Proc Natl Acad Sci U S A 116 (45), 22598-22608 (2019)
   PUBMED   31624125
  REMARK    GeneRIF: Mutation of key residues of TBC1D23 or FAM21 selectively
            disrupts the endosomal vesicular trafficking toward the Trans-Golgi
            Network.
REFERENCE   5  (residues 1 to 684)
  AUTHORS   Navarro Negredo P, Edgar JR, Manna PT, Antrobus R and Robinson MS.
  TITLE     The WDR11 complex facilitates the tethering of AP-1-derived
            vesicles
  JOURNAL   Nat Commun 9 (1), 596 (2018)
   PUBMED   29426865
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 684)
  AUTHORS   Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Almureikhi
            M, Demir E, Guemez-Gamboa A, Gregor A, Issa MY, Appelhof B, Roosing
            S, Musaev D, Rosti B, Wirth S, Stanley V, Baas F, Barr FA and
            Gleeson JG.
  TITLE     Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of
            Pontocerebellar Hypoplasia
  JOURNAL   Am J Hum Genet 101 (3), 441-450 (2017)
   PUBMED   28823706
  REMARK    GeneRIF: Homozygous Mutations in TBC1D23 gene are associated with
            Non-degenerative Form of Pontocerebellar Hypoplasia.
REFERENCE   7  (residues 1 to 684)
  AUTHORS   Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V,
            MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG,
            Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ,
            Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E,
            Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell
            CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R,
            Tay WT, Zheng Y, Chew M, Burdon KP, Craig JE, Iyengar SK, Igo RP
            Jr, Lass JH Jr, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja
            J, Simpson CL, Wojciechowski R, Hohn R, Mirshahi A, Zeller T,
            Pfeiffer N, Lackner KJ, Bettecken T, Meitinger T, Oexle K, Pirastu
            M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE,
            Hosseini SM, Paterson AD, Makela KM, Lehtimaki T, Kahonen M,
            Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap
            MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai
            ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A,
            Uitterlinden AG, Bencic G, Khor CC, Forward H, Parssinen O,
            Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo
            YY, Hammond CJ, Stambolian D, Mackey DA, Klaver CC, Wong TY, Saw SM
            and Baird PN.
  CONSRTM   Consortium for Refractive Error and Myopia; Fuchs' Genetics
            Multi-Center Study Group; Wellcome Trust Case Control Consortium 2;
            Diabetes Control and Complications Trial/Epidemiology of Diabetes
            Interventions, and Complications Research Group
  TITLE     Nine loci for ocular axial length identified through genome-wide
            association studies, including shared loci with refractive error
  JOURNAL   Am J Hum Genet 93 (2), 264-277 (2013)
   PUBMED   24144296
REFERENCE   8  (residues 1 to 684)
  AUTHORS   De Arras L, Yang IV, Lackford B, Riches DW, Prekeris R, Freedman
            JH, Schwartz DA and Alper S.
  TITLE     Spatiotemporal inhibition of innate immunity signaling by the
            Tbc1d23 RAB-GAP
  JOURNAL   J Immunol 188 (6), 2905-2913 (2012)
   PUBMED   22312129
REFERENCE   9  (residues 1 to 684)
  AUTHORS   Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Heard-Costa N, Lohman
            K, Johnson AD, Foster MC, Greenawalt DM, Griffin P, Ding J, Newman
            AB, Tylavsky F, Miljkovic I, Kritchevsky SB, Launer L, Garcia M,
            Eiriksdottir G, Carr JJ, Gudnason V, Harris TB, Cupples LA and
            Borecki IB.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
REFERENCE   10 (residues 1 to 684)
  AUTHORS   Ishibashi K, Kanno E, Itoh T and Fukuda M.
  TITLE     Identification and characterization of a novel Tre-2/Bub2/Cdc16
            (TBC) protein that possesses Rab3A-GAP activity
  JOURNAL   Genes Cells 14 (1), 41-52 (2009)
   PUBMED   19077034
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA801258.1, BX648032.1, AK001750.1 and BC020955.1.
            On Dec 10, 2008 this sequence version replaced NP_060779.1.
            
            Transcript Variant: This variant (2) lacks an exon in the 3' coding
            region, but maintains the reading frame, compared to variant 1. The
            encoded isoform (2) is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1923343.1,
                                           SRR7346977.1945649.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..684
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q12.1-q12.2"
     Protein         1..684
                     /product="TBC1 domain family member 23 isoform 2"
                     /note="HCV nonstructural protein 4A-transactivated protein
                     1; HCV non-structural protein 4A-transactivated protein 1"
                     /calculated_mol_wt=76370
     Region          48..246
                     /region_name="RabGAP-TBC"
                     /note="Rab-GTPase-TBC domain; pfam00566"
                     /db_xref="CDD:425753"
     Region          340..>384
                     /region_name="RHOD"
                     /note="Rhodanese Homology Domain (RHOD); an alpha beta
                     fold domain found duplicated in the rhodanese protein. The
                     cysteine containing enzymatically active version of the
                     domain is also found in the Cdc25 class of protein
                     phosphatases and a variety of proteins...; cl00125"
                     /db_xref="CDD:444705"
     Site            401
                     /site_type="active"
                     /note="active site residue [active]"
                     /db_xref="CDD:238089"
     Region          451..660
                     /region_name="TBC1D23_C"
                     /note="TBC1 domain family member 23 C-terminal; pfam19430"
                     /db_xref="CDD:437262"
     CDS             1..684
                     /gene="TBC1D23"
                     /gene_synonym="NS4ATP1; PCH11"
                     /coded_by="NM_018309.5:28..2082"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS2936.1"
                     /db_xref="GeneID:55773"
                     /db_xref="HGNC:HGNC:25622"
                     /db_xref="MIM:617687"
ORIGIN      
        1 maegedvppl ptssgdgwek dleealeagg cdletlrnii qgrplpadlr akvwkialnv
       61 agkgdslasw dgildlpeqn tihkdclqfi dqlsvpeeka aellldiesv itfycksrni
      121 kystslswih llkplvhlql prsdlyncfy aimnkyiprd csqkgrpfhl frlliqyhep
      181 elcsyldtkk itpdsyalnw lgslfacycs tevtqaiwdg ylqqadpffi yflmliilvn
      241 akeviltqes dskeevikfl entpsslnie diedlfslaq yycsktpasf rkdnhhlfgs
      301 tllgikddda dlsqalclai svseilqanq lqgegvrffv vdcrpaeqyn aghlstafhl
      361 dsdlmlqnps efaqsvksll eaqkqsiesg siaggehlcf mgsgreeedm ymnmvlahfl
      421 qknkeyvsia sggfmalqqh ladinvdgpe ngyghwiast sgsrssinsv dgespngssd
      481 rgmkslvnkm tvalktksvn vrekvisfie ntstpvdrhv sssdrvgkpy rgvkpvfsig
      541 deeeydtdei dsssmsdddr kevvniqtwi nkpdvkhhfp ckevkesghm fpshllvtat
      601 hmyclreivs rkglayiqsr qalnsvvkit skkkhpelit fkygnssasg ieilaieryl
      661 ipnagdatka ikqqimkvld ales
//
LOCUS       NP_115265                820 aa            linear   PRI 25-DEC-2022
DEFINITION  protocadherin gamma-A12 isoform 2 precursor [Homo sapiens].
ACCESSION   NP_115265
VERSION     NP_115265.1
DBSOURCE    REFSEQ: accession NM_032094.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 820)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   2  (residues 1 to 820)
  AUTHORS   Wu Q, Zhang T, Cheng JF, Kim Y, Grimwood J, Schmutz J, Dickson M,
            Noonan JP, Zhang MQ, Myers RM and Maniatis T.
  TITLE     Comparative DNA sequence analysis of mouse and human protocadherin
            gene clusters
  JOURNAL   Genome Res 11 (3), 389-404 (2001)
   PUBMED   11230163
REFERENCE   3  (residues 1 to 820)
  AUTHORS   Nollet F, Kools P and van Roy F.
  TITLE     Phylogenetic analysis of the cadherin superfamily allows
            identification of six major subfamilies besides several solitary
            members
  JOURNAL   J Mol Biol 299 (3), 551-572 (2000)
   PUBMED   10835267
  REMARK    Review article
REFERENCE   4  (residues 1 to 820)
  AUTHORS   Yagi T and Takeichi M.
  TITLE     Cadherin superfamily genes: functions, genomic organization, and
            neurologic diversity
  JOURNAL   Genes Dev 14 (10), 1169-1180 (2000)
   PUBMED   10817752
  REMARK    Review article
REFERENCE   5  (residues 1 to 820)
  AUTHORS   Wu Q and Maniatis T.
  TITLE     Large exons encoding multiple ectodomains are a characteristic
            feature of protocadherin genes
  JOURNAL   Proc Natl Acad Sci U S A 97 (7), 3124-3129 (2000)
   PUBMED   10716726
REFERENCE   6  (residues 1 to 820)
  AUTHORS   Wu Q and Maniatis T.
  TITLE     A striking organization of a large family of human neural
            cadherin-like cell adhesion genes
  JOURNAL   Cell 97 (6), 779-790 (1999)
   PUBMED   10380929
REFERENCE   7  (residues 1 to 820)
  AUTHORS   Matsuyoshi N and Imamura S.
  TITLE     Multiple cadherins are expressed in human fibroblasts
  JOURNAL   Biochem Biophys Res Commun 235 (2), 355-358 (1997)
   PUBMED   9199196
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005618.1, AL589367.1 and
            AF152506.1.
            
            Summary: This gene is a member of the protocadherin gamma gene
            cluster, one of three related clusters tandemly linked on
            chromosome five. These gene clusters have an immunoglobulin-like
            organization, suggesting that a novel mechanism may be involved in
            their regulation and expression. The gamma gene cluster includes 22
            genes divided into 3 subfamilies. Subfamily A contains 12 genes,
            subfamily B contains 7 genes and 2 pseudogenes, and the more
            distantly related subfamily C contains 3 genes. The tandem array of
            22 large, variable region exons are followed by a constant region,
            containing 3 exons shared by all genes in the cluster. Each
            variable region exon encodes the extracellular region, which
            includes 6 cadherin ectodomains and a transmembrane region. The
            constant region exons encode the common cytoplasmic region. These
            neural cadherin-like cell adhesion proteins most likely play a
            critical role in the establishment and function of specific
            cell-cell connections in the brain. Alternative splicing has been
            described for the gamma cluster genes. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (2) utilizes the large, first exon
            then continues into the downstream intron 1 sequence before
            terminating. This one-exon transcript encodes the shorter isoform
            (2).
            
            ##Evidence-Data-START##
            Transcript is intronless :: AF152506.1, SRR1803617.223695.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..820
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     Protein         1..820
                     /product="protocadherin gamma-A12 isoform 2 precursor"
                     /note="fibroblast cadherin FIB3; cadherin 21;
                     protocadherin gamma-A12; fibroblast cadherin-3"
                     /calculated_mol_wt=86359
     sig_peptide     1..29
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O60330.1)"
                     /calculated_mol_wt=3241
     mat_peptide     30..820
                     /product="protocadherin gamma-A12 isoform 2"
                     /calculated_mol_wt=86359
     Region          30..112
                     /region_name="Cadherin_2"
                     /note="Cadherin-like; pfam08266"
                     /db_xref="CDD:400525"
     Region          137..238
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(144..145,201,203,234,236..237)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          246..343
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(253..254,308,310,339,341..342)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            265
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O60330.1)"
     Region          355..448
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(358..359,411,413,444,446..447)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            419
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O60330.1)"
     Region          456..558
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(463..464,521,523,554,556..557)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            545
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O60330.1)"
     Region          579..666
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Region          688..772
                     /region_name="Cadherin_C_2"
                     /note="Cadherin cytoplasmic C-terminal; pfam16492"
                     /db_xref="CDD:435374"
     Site            693..713
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60330.1)"
     CDS             1..820
                     /gene="PCDHGA12"
                     /gene_synonym="CDH21; FIB3; PCDH-GAMMA-A12"
                     /coded_by="NM_032094.2:254..2716"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS75346.1"
                     /db_xref="GeneID:26025"
                     /db_xref="HGNC:HGNC:8699"
                     /db_xref="MIM:603059"
ORIGIN      
        1 miparlhrdy kglvllgill gtlwetgctq irysvpeele kgsrvgdisr dlgleprela
       61 ergvriiprg rtqlfalnpr sgslvtagri dreelcmgai kcqlnldilm edkvkiygve
      121 vevrdindna pyfreselei kisenaatem rfplphawdp digknslqsy elspnthfsl
      181 ivqngadgsk ypelvlkral dreekaahhl vltasdggdp vrtgtarirv mvldandnap
      241 afaqpeyras vpenlalgtq llvvnatdpd egvnaevrys fryvddkaaq vfkldcnsgt
      301 istigeldhe esgfyqmevq amdnagysar akvlitvldv ndnapevvlt slassvpens
      361 prgtlialln vndqdseeng qvicfiqgnl pfkleksygn yyslvtdivl dreqvpsyni
      421 tvtatdrgtp plstethisl nvadtndnpp vfpqasysay ipennprgvs lvsvtahdpd
      481 ceenaqitys laentiqgas lssyvsinsd tgvlyalssf dyeqfrdlqv kvmardnghp
      541 plssnvslsl fvldqndnap eilypalptd gstgvelapr saepgylvtk vvavdrdsgq
      601 nawlsyrllk asepglfsvg lhtgevrtar alldrdalkq slvvavqdhg qpplsatvtl
      661 tvavadsipq vladlgsles pansetsdlt lylvvavaav scvflafvil llalrlrrwh
      721 ksrllqasgg gltgapashf vgvdgvqafl qtyshevslt tdsrkshlif pqpnyadmlv
      781 sqesfeksep lllsgdsvfs kdshglievs lyqifflfff
//
LOCUS       NP_001304312             798 aa            linear   PRI 25-DEC-2022
DEFINITION  heat shock 70 kDa protein 4L isoform 4 [Homo sapiens].
ACCESSION   NP_001304312
VERSION     NP_001304312.1
DBSOURCE    REFSEQ: accession NM_001317383.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 798)
  AUTHORS   Zhu M, Huang Y, Tang J, Shao S, Zhang L, Zhou Y, He S and Wang Y.
  TITLE     Role of Apg-1 in HSF1 activation and bortezomib sensitivity in
            myeloma cells
  JOURNAL   Exp Hematol 81, 50-59 (2020)
   PUBMED   31899217
  REMARK    GeneRIF: Apg-1 knockdown sensitized myeloma cells to bortezomib
            treatment, which may provide a new approach in multiple myeloma
            treatment.
REFERENCE   2  (residues 1 to 798)
  AUTHORS   Liu X, Wang X and Liu F.
  TITLE     Decreased expression of heat shock protein A4L in spermatozoa is
            positively related to poor human sperm quality
  JOURNAL   Mol Reprod Dev 86 (4), 379-386 (2019)
   PUBMED   30637842
  REMARK    GeneRIF: decreased expression of HSPA4L in immature and
            asthenozoospermic spermatozoa was validated by western blot
            analysis. Functional analysis revealed a correlation between HSPA4L
            and sperm motility by Spearman correlation analysis and its
            involvement in sperm-oocyte penetration by the human sperm-hamster
            egg penetration test.
REFERENCE   3  (residues 1 to 798)
  AUTHORS   Wang S, Mo Y, Midorikawa K, Zhang Z, Huang G, Ma N, Zhao W, Hiraku
            Y, Oikawa S and Murata M.
  TITLE     The potent tumor suppressor miR-497 inhibits cancer phenotypes in
            nasopharyngeal carcinoma by targeting ANLN and HSPA4L
  JOURNAL   Oncotarget 6 (34), 35893-35907 (2015)
   PUBMED   26486082
  REMARK    GeneRIF: Findings indicate that miR-497 is a potent tumor
            suppressor that inhibits cancer phenotypes by targeting ANLN and
            HSPA4L in NPC.
REFERENCE   4  (residues 1 to 798)
  AUTHORS   Kuo Y, Ren S, Lao U, Edgar BA and Wang T.
  TITLE     Suppression of polyglutamine protein toxicity by co-expression of a
            heat-shock protein 40 and a heat-shock protein 110
  JOURNAL   Cell Death Dis 4 (10), e833 (2013)
   PUBMED   24091676
  REMARK    GeneRIF: HSP40 and HSP110 function together in protein homeostasis
            control.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 798)
  AUTHORS   Song Y, Nagy M, Ni W, Tyagi NK, Fenton WA, Lopez-Giraldez F,
            Overton JD, Horwich AL and Brady ST.
  TITLE     Molecular chaperone Hsp110 rescues a vesicle transport defect
            produced by an ALS-associated mutant SOD1 protein in squid axoplasm
  JOURNAL   Proc Natl Acad Sci U S A 110 (14), 5428-5433 (2013)
   PUBMED   23509252
  REMARK    GeneRIF: Human molecular chaperone Hsp110 rescues a vesicle
            transport defect produced by an ALS-associated mutant SOD1 protein
            in squid axoplasm.
REFERENCE   6  (residues 1 to 798)
  AUTHORS   Mala JG and Takeuchi S.
  TITLE     Molecular cloning of OSP94: A significant biomarker protein of
            hypertensive human heart and a member of HSP110 family
  JOURNAL   Mol Biotechnol 42 (2), 175-194 (2009)
   PUBMED   19169850
REFERENCE   7  (residues 1 to 798)
  AUTHORS   Takahashi H, Furukawa T, Yano T, Sato N, Takizawa J, Kurasaki T,
            Abe T, Narita M, Masuko M, Koyama S, Toba K, Takahashi M and Aizawa
            Y.
  TITLE     Identification of an overexpressed gene, HSPA4L, the product of
            which can provoke prevalent humoral immune responses in leukemia
            patients
  JOURNAL   Exp Hematol 35 (7), 1091-1099 (2007)
   PUBMED   17588478
REFERENCE   8  (residues 1 to 798)
  AUTHORS   Colgan SP, Pitman RS, Nagaishi T, Mizoguchi A, Mizoguchi E, Mayer
            LF, Shao L, Sartor RB, Subjeck JR and Blumberg RS.
  TITLE     Intestinal heat shock protein 110 regulates expression of CD1d on
            intestinal epithelial cells
  JOURNAL   J Clin Invest 112 (5), 745-754 (2003)
   PUBMED   12952923
  REMARK    GeneRIF: a novel autocrine pathway of CD1d regulation by Hsp110.
REFERENCE   9  (residues 1 to 798)
  AUTHORS   Nonoguchi K, Tokuchi H, Okuno H, Watanabe H, Egawa H, Saito K,
            Ogawa O and Fujita J.
  TITLE     Expression of Apg-1, a member of the Hsp110 family, in the human
            testis and sperm
  JOURNAL   Int J Urol 8 (6), 308-314 (2001)
   PUBMED   11389747
REFERENCE   10 (residues 1 to 798)
  AUTHORS   Nonoguchi K, Itoh K, Xue JH, Tokuchi H, Nishiyama H, Kaneko Y,
            Tatsumi K, Okuno H, Tomiwa K and Fujita J.
  TITLE     Cloning of human cDNAs for Apg-1 and Apg-2, members of the Hsp110
            family, and chromosomal assignment of their genes
  JOURNAL   Gene 237 (1), 21-28 (1999)
   PUBMED   10524232
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK307464.1, BC040560.1,
            AC093591.3 and BM679019.1.
            
            Summary: The protein encoded by this gene is heat shock inducible
            and may act as a chaperone. The encoded protein can protect the
            heat-shocked cell against the harmful effects of aggregated
            proteins. This gene is highly expressed in leukemia cells and may
            be a good target for therapeutic intervention. Several transcripts
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (4) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (4) has the same
            N- and C-termini but is shorter compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968540,
                              SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..798
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q28.1"
     Protein         1..798
                     /product="heat shock 70 kDa protein 4L isoform 4"
                     /note="heat shock protein (hsp110 family); heat shock 70
                     kDa protein 4L; testis tissue sperm-binding protein Li
                     64n; heat shock 70 kDa protein 4-like protein; osmotic
                     stress protein 94; heat shock 70-related protein APG-1;
                     heat shock 70kDa protein 4-like; HSPA4-like protein;
                     heat-shock protein family A member 4-like protein"
                     /calculated_mol_wt=89779
     Region          2..343
                     /region_name="NBD_sugar-kinase_HSP70_actin"
                     /note="Nucleotide-Binding Domain of the sugar
                     kinase/HSP70/actin superfamily; cl17037"
                     /db_xref="CDD:450142"
     Site            order(7..10,12,14,132,161..164,301)
                     /site_type="other"
                     /note="nucleotide binding site [chemical binding]"
                     /db_xref="CDD:212657"
     CDS             1..798
                     /gene="HSPA4L"
                     /gene_synonym="APG-1; APG1; HSPH3; Osp94"
                     /coded_by="NM_001317383.2:230..2626"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:22824"
                     /db_xref="HGNC:HGNC:17041"
                     /db_xref="MIM:619077"
ORIGIN      
        1 msvvgidlgf lncyiavars ggietianey sdrctpacis lgsrtraign aaksqivtnv
       61 rntihgfkkl hgrsfddpiv qterirlpye lqkmpngsag vkipsfftda errsvmaaaq
      121 vaglnclrlm nettavalay giykqdlppl dekprnvvfi dmghsayqvl vcafnkgklk
      181 vlattfdpyl ggrnfdealv dyfcdefktk ykinvkensr allrlyqece klkklmsana
      241 sdlplniecf mndldvsskm nraqfeqlca sllarveppl kavmeqanlq redissieiv
      301 ggatripavk eqitkfflkd isttlnadea vargcalqca ilspafkvre fsitdlvpys
      361 itlrwktsfe dgsgecevfc knhpapfskv itfhkkepfe leafytnlhe vpypdarigs
      421 ftiqnvfpqs dgdsskvkvk vrvnihgifs vasasviekq nlegdhsdap metetsfkne
      481 nkdnmdkmqv dqeeghqkch aehtpeeeid htgaktksav sdkqdrlnqt lkkgkvksid
      541 lpiqsslcrq lgqdllnsyi enegkmimqd klekerndak naveeyvydf rdrlgtvyek
      601 fitpedlskl savledtenw lyedgedqpk qvyvdklqel kkygqpiqmk ymeheerpka
      661 lndlgkkiql vmkvieayrn kderydhldp temekvekci sdamswlnsk mnaqnklslt
      721 qdpvvkvsei vakskeldnf cnpiiykpkp kaevpedkpk ansehngpmd gqsgtetksd
      781 stkdssqhtk ssgemevd
//
LOCUS       NP_004392                331 aa            linear   PRI 25-DEC-2022
DEFINITION  DNA fragmentation factor subunit alpha isoform 1 [Homo sapiens].
ACCESSION   NP_004392
VERSION     NP_004392.1
DBSOURCE    REFSEQ: accession NM_004401.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 331)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 331)
  AUTHORS   Banas T, Pitynski K, Mikos M and Cielecka-Kuszyk J.
  TITLE     Endometrial Polyps and Benign Endometrial Hyperplasia Have
            Increased Prevalence of DNA Fragmentation Factors 40 and 45 (DFF40
            and DFF45) Together With the Antiapoptotic B-Cell Lymphoma (Bcl-2)
            Protein Compared With Normal Human Endometria
  JOURNAL   Int J Gynecol Pathol 37 (5), 431-440 (2018)
   PUBMED   28914671
  REMARK    GeneRIF: Glandular, menopause-independent DFF40, DFF45, and Bcl-2
            overexpression may play an important role in the pathogenesis of
            endometrial polyps and benign endometrial hyperplasia
REFERENCE   3  (residues 1 to 331)
  AUTHORS   Fawzy MS, Toraih EA, Ibrahiem A, Abdeldayem H, Mohamed AO and
            Abdel-Daim MM.
  TITLE     Evaluation of miRNA-196a2 and apoptosis-related target genes:
            ANXA1, DFFA and PDCD4 expression in gastrointestinal cancer
            patients: A pilot study
  JOURNAL   PLoS One 12 (11), e0187310 (2017)
   PUBMED   29091952
  REMARK    GeneRIF: evaluate the relative expression levels of miR-196a2 and
            three of its selected apoptosis-related targets; ANXA1, DFFA and
            PDCD4 in a sample of GI cancer patients
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 331)
  AUTHORS   Morgan CW, Diaz JE, Zeitlin SG, Gray DC and Wells JA.
  TITLE     Engineered cellular gene-replacement platform for selective and
            inducible proteolytic profiling
  JOURNAL   Proc Natl Acad Sci U S A 112 (27), 8344-8349 (2015)
   PUBMED   26106156
  REMARK    GeneRIF: Data show that the caspase-activated DNase (CAD) is
            activated when caspases cleave its endogenous inhibitor ICAD,
            resulting in the characteristic DNA laddering of apoptosis.
REFERENCE   5  (residues 1 to 331)
  AUTHORS   Katsogiannou M, Andrieu C, Baylot V, Baudot A, Dusetti NJ, Gayet O,
            Finetti P, Garrido C, Birnbaum D, Bertucci F, Brun C and Rocchi P.
  TITLE     The functional landscape of Hsp27 reveals new cellular processes
            such as DNA repair and alternative splicing and proposes novel
            anticancer targets
  JOURNAL   Mol Cell Proteomics 13 (12), 3585-3601 (2014)
   PUBMED   25277244
REFERENCE   6  (residues 1 to 331)
  AUTHORS   Liu X, Zou H, Widlak P, Garrard W and Wang X.
  TITLE     Activation of the apoptotic endonuclease DFF40 (caspase-activated
            DNase or nuclease). Oligomerization and direct interaction with
            histone H1
  JOURNAL   J Biol Chem 274 (20), 13836-13840 (1999)
   PUBMED   10318789
REFERENCE   7  (residues 1 to 331)
  AUTHORS   Inohara N, Koseki T, Chen S, Wu X and Nunez G.
  TITLE     CIDE, a novel family of cell death activators with homology to the
            45 kDa subunit of the DNA fragmentation factor
  JOURNAL   EMBO J 17 (9), 2526-2533 (1998)
   PUBMED   9564035
REFERENCE   8  (residues 1 to 331)
  AUTHORS   Enari M, Sakahira H, Yokoyama H, Okawa K, Iwamatsu A and Nagata S.
  TITLE     A caspase-activated DNase that degrades DNA during apoptosis, and
            its inhibitor ICAD
  JOURNAL   Nature 391 (6662), 43-50 (1998)
   PUBMED   9422506
  REMARK    Erratum:[Nature 1998 May 28;393(6683):396]
REFERENCE   9  (residues 1 to 331)
  AUTHORS   Liu X, Zou H, Slaughter C and Wang X.
  TITLE     DFF, a heterodimeric protein that functions downstream of caspase-3
            to trigger DNA fragmentation during apoptosis
  JOURNAL   Cell 89 (2), 175-184 (1997)
   PUBMED   9108473
REFERENCE   10 (residues 1 to 331)
  AUTHORS   Leek JP, Carr IM, Bell SM, Markham AF and Lench NJ.
  TITLE     Assignment of the DNA fragmentation factor gene (DFFA) to human
            chromosome bands 1p36.3-->p36.2 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 79 (3-4), 212-213 (1997)
   PUBMED   9605855
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU121791.1, BC007112.1,
            BC000037.2, BC007721.2 and AL354956.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: Apoptosis is a cell death process that removes toxic
            and/or useless cells during mammalian development. The apoptotic
            process is accompanied by shrinkage and fragmentation of the cells
            and nuclei and degradation of the chromosomal DNA into nucleosomal
            units. DNA fragmentation factor (DFF) is a heterodimeric protein of
            40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for
            caspase-3 and triggers DNA fragmentation during apoptosis. DFF
            becomes activated when DFFA is cleaved by caspase-3. The cleaved
            fragments of DFFA dissociate from DFFB, the active component of
            DFF. DFFB has been found to trigger both DNA fragmentation and
            chromatin condensation during apoptosis. Two alternatively spliced
            transcript variants encoding distinct isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.376436.1, BC007721.2
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377038.8/ ENSP00000366237.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     Protein         1..331
                     /product="DNA fragmentation factor subunit alpha isoform
                     1"
                     /note="DFF45; inhibitor of CAD; DNA fragmentation factor
                     45 kDa subunit; DNA fragmentation factor, 45kDa, alpha
                     polypeptide"
                     /calculated_mol_wt=36391
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.9,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O00273.1)"
     Region          18..96
                     /region_name="CIDE_N"
                     /note="CIDE_N domain, found at the N-terminus of the CIDE
                     (cell death-inducing DFF45-like effector) proteins, as
                     well as CAD nuclease (caspase-activated DNase/DNA
                     fragmentation factor, DFF40) and its inhibitor,
                     ICAD(DFF45). These proteins are associated with...;
                     cl02541"
                     /db_xref="CDD:445821"
     Site            order(22,31..32,34..35,45,49,66,68..69,74..75,94,96)
                     /site_type="other"
                     /note="putative heterodimer interaction sites [polypeptide
                     binding]"
                     /db_xref="CDD:119367"
     Region          100..264
                     /region_name="DFF-C"
                     /note="DNA Fragmentation factor 45kDa, C terminal domain;
                     pfam09033"
                     /db_xref="CDD:430378"
     Site            117..118
                     /site_type="cleavage"
                     /note="Cleavage, by caspase-3; propagated from
                     UniProtKB/Swiss-Prot (O00273.1)"
     Site            224..225
                     /site_type="cleavage"
                     /note="Cleavage, by caspase-3; propagated from
                     UniProtKB/Swiss-Prot (O00273.1)"
     Site            243
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00273.1)"
     Region          305..331
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00273.1)"
     Site            315
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O00273.1)"
     CDS             1..331
                     /gene="DFFA"
                     /gene_synonym="DFF-45; DFF1; ICAD"
                     /coded_by="NM_004401.3:72..1067"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS118.1"
                     /db_xref="GeneID:1676"
                     /db_xref="HGNC:HGNC:2772"
                     /db_xref="MIM:601882"
ORIGIN      
        1 mevtgdagvp esgeirtlkp cllrrnysre qhgvaascle dlrskacdil aidksltpvt
       61 lvlaedgtiv ddddyflclp sntkfvalas nekwaynnsd ggtawisqes fdvdetdsga
      121 glkwknvarq lkedlssiil lseedlqmlv dapcsdlaqe lrqscatvqr lqhtlqqvld
      181 qreevrqskq llqlylqale kegsllskqe eskaafgeev davdtgisre tssdvalash
      241 iltalrekqa pelslssqdl elvtkedpka lavalnwdik ktetvqeace relalrlqqt
      301 qslhslrsis askasppgdl qnpkrarqdp t
//
LOCUS       NP_001354326            1265 aa            linear   PRI 25-DEC-2022
DEFINITION  WASH complex subunit 2C isoform 9 [Homo sapiens].
ACCESSION   NP_001354326
VERSION     NP_001354326.1
DBSOURCE    REFSEQ: accession NM_001367397.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1265)
  AUTHORS   McNally KE, Faulkner R, Steinberg F, Gallon M, Ghai R, Pim D,
            Langton P, Pearson N, Danson CM, Nagele H, Morris LL, Singla A,
            Overlee BL, Heesom KJ, Sessions R, Banks L, Collins BM, Berger I,
            Billadeau DD, Burstein E and Cullen PJ.
  TITLE     Retriever is a multiprotein complex for retromer-independent
            endosomal cargo recycling
  JOURNAL   Nat Cell Biol 19 (10), 1214-1225 (2017)
   PUBMED   28892079
REFERENCE   2  (residues 1 to 1265)
  AUTHORS   Follett J, Bugarcic A, Yang Z, Ariotti N, Norwood SJ, Collins BM,
            Parton RG and Teasdale RD.
  TITLE     Parkinson Disease-linked Vps35 R524W Mutation Impairs the Endosomal
            Association of Retromer and Induces alpha-Synuclein Aggregation
  JOURNAL   J Biol Chem 291 (35), 18283-18298 (2016)
   PUBMED   27385586
REFERENCE   3  (residues 1 to 1265)
  AUTHORS   Deng ZH, Gomez TS, Osborne DG, Phillips-Krawczak CA, Zhang JS and
            Billadeau DD.
  TITLE     Nuclear FAM21 participates in NF-kappaB-dependent gene regulation
            in pancreatic cancer cells
  JOURNAL   J Cell Sci 128 (2), 373-384 (2015)
   PUBMED   25431135
  REMARK    GeneRIF: FAM21 not only functions as an integral component of the
            cytoplasmic WASH complex, but also modulates NF-kappaB gene
            transcription in the nucleus.
REFERENCE   4  (residues 1 to 1265)
  AUTHORS   Phillips-Krawczak CA, Singla A, Starokadomskyy P, Deng Z, Osborne
            DG, Li H, Dick CJ, Gomez TS, Koenecke M, Zhang JS, Dai H,
            Sifuentes-Dominguez LF, Geng LN, Kaufmann SH, Hein MY, Wallis M,
            McGaughran J, Gecz J, Sluis Bv, Billadeau DD and Burstein E.
  TITLE     COMMD1 is linked to the WASH complex and regulates endosomal
            trafficking of the copper transporter ATP7A
  JOURNAL   Mol Biol Cell 26 (1), 91-103 (2015)
   PUBMED   25355947
REFERENCE   5  (residues 1 to 1265)
  AUTHORS   McGough IJ, Steinberg F, Gallon M, Yatsu A, Ohbayashi N, Heesom KJ,
            Fukuda M and Cullen PJ.
  TITLE     Identification of molecular heterogeneity in
            SNX27-retromer-mediated endosome-to-plasma-membrane recycling
  JOURNAL   J Cell Sci 127 (Pt 22), 4940-4953 (2014)
   PUBMED   25278552
REFERENCE   6  (residues 1 to 1265)
  AUTHORS   Hernandez-Valladares M, Kim T, Kannan B, Tung A, Aguda AH, Larsson
            M, Cooper JA and Robinson RC.
  TITLE     Structural characterization of a capping protein interaction motif
            defines a family of actin filament regulators
  JOURNAL   Nat Struct Mol Biol 17 (4), 497-503 (2010)
   PUBMED   20357771
REFERENCE   7  (residues 1 to 1265)
  AUTHORS   Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura
            Y and Kamatani N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   8  (residues 1 to 1265)
  AUTHORS   Derivery E, Sousa C, Gautier JJ, Lombard B, Loew D and Gautreau A.
  TITLE     The Arp2/3 activator WASH controls the fission of endosomes through
            a large multiprotein complex
  JOURNAL   Dev Cell 17 (5), 712-723 (2009)
   PUBMED   19922875
REFERENCE   9  (residues 1 to 1265)
  AUTHORS   Gomez TS and Billadeau DD.
  TITLE     A FAM21-containing WASH complex regulates retromer-dependent
            sorting
  JOURNAL   Dev Cell 17 (5), 699-711 (2009)
   PUBMED   19922874
  REMARK    GeneRIF: WASH exists in a multiprotein complex containing FAM21,
            which links WASH to endosomes and is required for WASH-dependent
            retromer-mediated sorting.
REFERENCE   10 (residues 1 to 1265)
  AUTHORS   Huang CY, Lu TY, Bair CH, Chang YS, Jwo JK and Chang W.
  TITLE     A novel cellular protein, VPEF, facilitates vaccinia virus
            penetration into HeLa cells through fluid phase endocytosis
  JOURNAL   J Virol 82 (16), 7988-7999 (2008)
   PUBMED   18550675
  REMARK    GeneRIF: a cellular factor, VPEF, is exploited by vaccinia virus
            for cell entry through fluid phase endocytosis when vaccinia virus
            enters HeLa cells
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL645998.10, AL731535.6 and AC012044.15.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1965299, SAMEA1966682
                              [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1265
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     Protein         1..1265
                     /product="WASH complex subunit 2C isoform 9"
                     /note="WASH complex subunit FAM21C; vaccinia virus
                     penetration factor; family with sequence similarity 21
                     member C"
                     /calculated_mol_wt=139345
     Region          <589..816
                     /region_name="PTZ00108"
                     /note="DNA topoisomerase 2-like protein; Provisional"
                     /db_xref="CDD:240271"
     Region          943..1063
                     /region_name="CAP-ZIP_m"
                     /note="WASH complex subunit CAP-Z interacting, central
                     region; pfam15255"
                     /db_xref="CDD:434577"
     CDS             1..1265
                     /gene="WASHC2C"
                     /gene_synonym="FAM21A; FAM21C; VPEF"
                     /coded_by="NM_001367397.1:53..3850"
                     /note="isoform 9 is encoded by transcript variant 9"
                     /db_xref="GeneID:253725"
                     /db_xref="HGNC:HGNC:23414"
                     /db_xref="MIM:613631"
ORIGIN      
        1 mmnrttpdqe lvpasepvwe rpwsveeirr ssqswslaad agllqflqef sqqtisrthe
       61 ikkqvdglir etkatdcrlh nvfndflmls ntqfienrvy deeveepvlk aeaekteqek
      121 treqkevdli pkvqeavnyg lqvldsafeq ldikagnsds eeddangrve lilepkdlyi
      181 drplpyligs klfmeqedvg lgelsseegs vgsdrgsivd teeekeeees dedfahhsdn
      241 eqnqhttqms deeedddgcd lfadsekeee diedieentr pkrsrptsfa delaarikgd
      301 amgrvdeept tlpsgeakpr ktlkekkerr tpsddeednl fappkltded fspfgsgggl
      361 fsggkglfdd edeesdlfte asqdrqagas vkeesssskp gkkipagavs vflgdtdvfg
      421 aasvpslkep qkpeqptprk spygppptgl fddddgdddd dffsaphskp sktrkvqsta
      481 difgdeegdl fkekavaspe atvsqtdenk araekkvtls ysknlkpsse tktqkglfsd
      541 eedsedlfss qsasnlkgas llpgklptsv slfddedeed nlfggtaakk qtlslqaqre
      601 ekakaselsk kkasallfss deedqwnipa sqthlasdsr skgeprdsgt lqsqeakavk
      661 ktslfeedke ddlfaiakds qkktqrvsll feddvdsggs lfgspptsvp patkkketvs
      721 eappllfsde eekeaqlgvk svdkkvesak eslkfgrtdv aesekegllt rsaqetvkhs
      781 dlfsssspwd kgtkprtktv lslfdeeedk medqniiqap qkevgkgcdp dahpkstgvf
      841 qdeellfshk lqkdndpdvd lfagtkktkl lepsvgslfg ddedddlfss aksqplvqek
      901 krvvkkdhsv nsfknqkhpe siqgskekgi wkpetpqdss glapfktkep strigkiqan
      961 lainpaallp taasqisevk pvlpelafps sehrrshgle svpvlpgsge agvsfdlpaq
     1021 adtlhsanks rvkmrgkrrp qtraarrlaa qesseaedif stgtgsqsve rtkpkakiae
     1081 npanppvggk akspmfpalg eassdddlfq sakpkpakkt npfplleded dlftdqkvkk
     1141 netksssqqd vilttqdife ddifateaik psqktrekek tlesnlfddn idifadltvk
     1201 pkekskkkve aksifdddmd difstgiqak ttkpksrsaq aapeprfehk vsnifddpln
     1261 afggq
//
LOCUS       NP_055045                627 aa            linear   PRI 25-DEC-2022
DEFINITION  signal recognition particle subunit SRP68 isoform 1 [Homo sapiens].
ACCESSION   NP_055045
VERSION     NP_055045.2
DBSOURCE    REFSEQ: accession NM_014230.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 627)
  AUTHORS   Schmaltz-Panneau B, Pagnier A, Clauin S, Buratti J, Marty C,
            Fenneteau O, Dieterich K, Beaupain B, Donadieu J, Plo I and
            Bellanne-Chantelot C.
  TITLE     Identification of biallelic germline variants of SRP68 in a
            sporadic case with severe congenital neutropenia
  JOURNAL   Haematologica 106 (4), 1216-1219 (2021)
   PUBMED   32273475
  REMARK    GeneRIF: Identification of biallelic germline variants of SRP68 in
            a sporadic case with severe congenital neutropenia.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 627)
  AUTHORS   Wild K, Juaire KD, Soni K, Shanmuganathan V, Hendricks A, Segnitz
            B, Beckmann R and Sinning I.
  TITLE     Reconstitution of the human SRP system and quantitative and
            systematic analysis of its ribosome interactions
  JOURNAL   Nucleic Acids Res 47 (6), 3184-3196 (2019)
   PUBMED   30649417
  REMARK    GeneRIF: e show that SRP RNA does not bind to the ribosome, while
            SRP binds with nanomolar affinity involving a two-step mechanism of
            the key-player SRP54. Ultrasensitive binding of SRP68/72 indicates
            avidity by multiple binding sites that are dominated by the
            C-terminus of SRP72
REFERENCE   3  (residues 1 to 627)
  AUTHORS   Gao Y, Zhang Q, Lang Y, Liu Y, Dong X, Chen Z, Tian W, Tang J, Wu
            W, Tong Y and Chen Z.
  TITLE     Human apo-SRP72 and SRP68/72 complex structures reveal the
            molecular basis of protein translocation
  JOURNAL   J Mol Cell Biol 9 (3), 220-230 (2017)
   PUBMED   28369529
  REMARK    GeneRIF: The essential role of the SRP68-SRP72 interaction in the
            signal recognition particle-mediated protein translocation
REFERENCE   4  (residues 1 to 627)
  AUTHORS   Becker MM, Lapouge K, Segnitz B, Wild K and Sinning I.
  TITLE     Structures of human SRP72 complexes provide insights into SRP RNA
            remodeling and ribosome interaction
  JOURNAL   Nucleic Acids Res 45 (1), 470-481 (2017)
   PUBMED   27899666
  REMARK    GeneRIF: The crystal structures of the SRP68 protein-binding domain
            (PBD) in complex with SRP72-PBD and of the SRP72-RBD bound to the
            SRP S domain (SRP RNA, SRP19 and SRP68) detailing all interactions
            of SRP72 within SRP have been presented.
REFERENCE   5  (residues 1 to 627)
  AUTHORS   Menichelli E, Isel C, Oubridge C and Nagai K.
  TITLE     Protein-induced conformational changes of RNA during the assembly
            of human signal recognition particle
  JOURNAL   J Mol Biol 367 (1), 187-203 (2007)
   PUBMED   17254600
REFERENCE   6  (residues 1 to 627)
  AUTHORS   Iakhiaeva E, Bhuiyan SH, Yin J and Zwieb C.
  TITLE     Protein SRP68 of human signal recognition particle: identification
            of the RNA and SRP72 binding domains
  JOURNAL   Protein Sci 15 (6), 1290-1302 (2006)
   PUBMED   16672232
  REMARK    GeneRIF: The RNA binding domain of SRP68 included residues from
            positions 52 to 252. Ninety-four amino acids near the C terminus of
            SRP68 mediated the binding to SRP72
REFERENCE   7  (residues 1 to 627)
  AUTHORS   Harada H, Nagai H, Mine N, Terada Y, Fujiwara H, Mikami I,
            Tsuneizumi M, Yabe A, Miyazaki K, Yokota T, Imoto I, Inazawa J and
            Emi M.
  TITLE     Molecular cloning, tissue expression, and chromosomal assignment of
            a novel gene encoding a subunit of the human signal-recognition
            particle
  JOURNAL   J Hum Genet 46 (2), 70-75 (2001)
   PUBMED   11281415
REFERENCE   8  (residues 1 to 627)
  AUTHORS   Politz JC, Yarovoi S, Kilroy SM, Gowda K, Zwieb C and Pederson T.
  TITLE     Signal recognition particle components in the nucleolus
  JOURNAL   Proc Natl Acad Sci U S A 97 (1), 55-60 (2000)
   PUBMED   10618370
REFERENCE   9  (residues 1 to 627)
  AUTHORS   Larsen N, Samuelsson T and Zwieb C.
  TITLE     The Signal Recognition Particle Database (SRPDB)
  JOURNAL   Nucleic Acids Res 26 (1), 177-178 (1998)
   PUBMED   9399828
REFERENCE   10 (residues 1 to 627)
  AUTHORS   Lutcke H, Prehn S, Ashford AJ, Remus M, Frank R and Dobberstein B.
  TITLE     Assembly of the 68- and 72-kD proteins of signal recognition
            particle with 7S RNA
  JOURNAL   J Cell Biol 121 (5), 977-985 (1993)
   PUBMED   8388879
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU137443.1, AK074698.1,
            AF195951.1, DQ786315.1 and DB315535.1.
            On Nov 3, 2002 this sequence version replaced NP_055045.1.
            
            Summary: This gene encodes a subunit of the signal recognition
            particle (SRP). The SRP is a ribonucleoprotein complex that
            transports secreted and membrane proteins to the endoplasmic
            reticulum for processing. The complex includes a 7S RNA and six
            protein subunits. The encoded protein is the 68kDa component of the
            SRP, and forms a heterodimer with the 72kDa subunit that is
            required for SRP function. Alternatively spliced transcript
            variants encoding multiple isoforms have been observed for this
            gene, and three pseudogenes of this gene are located within the
            Smith-Magenis syndrome region on chromosome 17. [provided by
            RefSeq, May 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1063095.1,
                                           SRR1803617.1913.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307877.7/ ENSP00000312066.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..627
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     Protein         1..627
                     /product="signal recognition particle subunit SRP68
                     isoform 1"
                     /note="signal recognition particle 68 kDa protein; signal
                     recognition particle 68kDa; signal recognition particle
                     subunit SRP68"
                     /calculated_mol_wt=70599
     Region          1..53
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHB9.2)"
     Site            48
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087; propagated from
                     UniProtKB/Swiss-Prot (Q9UHB9.2)"
     Region          52..252
                     /region_name="RNA-binding.
                     /evidence=ECO:0000269|PubMed:16672232"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHB9.2)"
     Site            order(72,81..82,84,86,88..93,95..97,122,133,137,150..151,
                     153..154,157..158,161,164)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:271252"
     Region          75..598
                     /region_name="SRP68"
                     /note="RNA-binding signal recognition particle 68;
                     pfam16969"
                     /db_xref="CDD:435682"
     Site            241
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UHB9.2)"
     Site            452
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9UHB9.2)"
     Region          588..610
                     /region_name="Required for interaction with SRP72.
                     /evidence=ECO:0000269|PubMed:16672232,
                     ECO:0000269|PubMed:28369529"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHB9.2)"
     CDS             1..627
                     /gene="SRP68"
                     /coded_by="NM_014230.4:27..1910"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS11738.1"
                     /db_xref="GeneID:6730"
                     /db_xref="HGNC:HGNC:11302"
                     /db_xref="MIM:604858"
ORIGIN      
        1 maaekqvpgg gggggsgggg gsggggsggg rgaggeenke nerpsagska nkefgdslsl
       61 eilqiikesq qqhglrhgdf qryrgycsrr qrrlrktlnf kmgnrhkftg kkvteelltd
      121 nrylllvlmd aerawsyamq lkqeantepr krfhllsrlr kavkhaeele rlcesnrvda
      181 ktkleaqayt aylsgmlrfe hqewkaaiea fnkcktiyek lasafteeqa vlynqrveei
      241 spnirycayn igdqsainel mqmrlrsggt egllaeklea litqtrakqa atmsevewrg
      301 rtvpvkidkv rifllgladn eaaivqaese etkerlfesm lsecrdaiqv vreelkpdqk
      361 qrdyilegep gkvsnlqylh syltyiklst aikrnenmak glqrallqqq peddskrspr
      421 pqdlirlydi ilqnlvellq lpgleedkaf qkeiglktlv fkayrcffia qsyvlvkkws
      481 ealvlydrvl kyanevnsda gafknslkdl pdvqelitqv rsekcslqaa aildandahq
      541 tetsssqvkd nkplverfet fcldpslvtk qanlvhfppg fqpipckplf fdlalnhvaf
      601 ppledkleqk tksgltgyik gifgfrs
//
LOCUS       NP_001356759             808 aa            linear   PRI 25-DEC-2022
DEFINITION  zinc finger protein 841 isoform 2 [Homo sapiens].
ACCESSION   NP_001356759
VERSION     NP_001356759.1
DBSOURCE    REFSEQ: accession NM_001369830.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 808)
  AUTHORS   Wu AC, Himes BE, Lasky-Su J, Litonjua A, Peters SP, Lima J, Kubo M,
            Tamari M, Nakamura Y, Qiu W, Weiss ST and Tantisira K.
  TITLE     Inhaled corticosteroid treatment modulates ZNF432 gene variant's
            effect on bronchodilator response in asthmatics
  JOURNAL   J Allergy Clin Immunol 133 (3), 723-8 (2014)
   PUBMED   24280104
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011468.8.
            
            Transcript Variant: This variant (10), as well as variant 2,
            encodes isoform 2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.207590.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467149, SAMN02400288
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..808
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     Protein         1..808
                     /product="zinc finger protein 841 isoform 2"
                     /calculated_mol_wt=93017
     Region          143..519
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          148..167
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          175..195
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          203..223
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          231..251
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(236,238,240,242..243,246..247,250,264,266,270..271,
                     274..275,278,292,294,296,298..299,302..303,306)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          259..279
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          287..307
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          315..335
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          343..363
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(348,350,352,354..355,358..359,362,376,378,382..383,
                     386..387,390,404,406,408,410..411,414..415,418)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          367..769
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          371..391
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          399..419
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          427..447
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          455..475
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          483..503
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(488,490,492,494..495,498..499,502,516,518,522..523,
                     526..527,530,544,546,548,550..551,554..555,558)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          511..531
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          539..559
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          595..615
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          623..643
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          651..671
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          679..699
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(684,686,688,690..691,694..695,698,712,714,718..719,
                     722..723,726,740,742,744,746..747,750..751,754)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          707..727
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          735..755
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          763..783
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..808
                     /gene="ZNF841"
                     /coded_by="NM_001369830.1:361..2787"
                     /note="isoform 2 is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS82388.1"
                     /db_xref="GeneID:284371"
                     /db_xref="HGNC:HGNC:27611"
ORIGIN      
        1 mleghesydt enfyfreirk nlqevdfqwk dgeinykegp mthknnltgq rvrhsqgdve
       61 nkhmenqlil rfqsglgelq kfqtaekiyg cnqiertvnn cflasplqri fpgvqtnisr
      121 kygndflqls lptqdekthi rekpyignec gkafrvsssl inhqmihtte kpyrcnesgk
      181 afhrgslltv hqivhtrgkp yqcdvcgrif rqnsdlvnhr rshtgdkpyi cnecgksfsk
      241 sshlavhqri htgekpykcn rcgkcfsqss slathqtvht gdkpykcnec gktfkrnssl
      301 tahhiihagk kpytcdvcgk vfyqnsqlvr hqiihtgetp ykcnecgkvf fqrsrlaghr
      361 rihtgekpyk cnecgkvfsq hshlavhqrv htgekpykcn ecgkafnwgs lltvhqriht
      421 gekpykcnvc gkvfnyggyl svhmrchtge kplhcnkcgm vftyysclar hqrmhtgekp
      481 ykcnvcgkvf idsgnlsihr rshtgekpfq cnecgkvfsy ysclarhrki htgekpykcn
      541 dcgkaytqrs sltkhlviht genpyhcnef geafiqsskl aryhrnptge kphkcsecgr
      601 tfshktslvy hqrrhtgemp ykciecgkvf nstttlarhr rihtgekpyk cnecgkvfry
      661 rsglarhwsi htgekpykcn ecgkafrvrs illnhqmmht gekpykcnec gkafiersnl
      721 vyhqrnhtge kpykcmecgk afgrrscltk hqrihssekp ykcnecgksy isrsgltkhq
      781 ikhagenltt klnverpldv vltsgipk
//
LOCUS       NP_001306159              99 aa            linear   PRI 25-DEC-2022
DEFINITION  uncharacterized protein KIAA0040 [Homo sapiens].
ACCESSION   NP_001306159 XP_005245685
VERSION     NP_001306159.1
DBSOURCE    REFSEQ: accession NM_001319230.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 99)
  AUTHORS   Hill SY, Jones BL, Zezza N and Stiffler S.
  TITLE     Family-based association analysis of alcohol dependence implicates
            KIAA0040 on Chromosome 1q in multiplex alcohol dependence families
  JOURNAL   Open J Genet 3 (4), 243-252 (2013)
   PUBMED   24829844
REFERENCE   2  (residues 1 to 99)
  AUTHORS   Zuo L, Gelernter J, Zhang CK, Zhao H, Lu L, Kranzler HR, Malison
            RT, Li CS, Wang F, Zhang XY, Deng HW, Krystal JH, Zhang F and Luo
            X.
  TITLE     Genome-wide association study of alcohol dependence implicates
            KIAA0040 on chromosome 1q
  JOURNAL   Neuropsychopharmacology 37 (2), 557-566 (2012)
   PUBMED   21956439
  REMARK    GeneRIF: conclude that KIAA0040 might harbor a causal variant for
            AD and thus might directly contribute to risk for this disorder.
            Erratum:[Neuropsychopharmacology. 2012 Jan;37(2):581-2]
REFERENCE   3  (residues 1 to 99)
  AUTHORS   Wang KS, Liu X, Zhang Q, Pan Y, Aragam N and Zeng M.
  TITLE     A meta-analysis of two genome-wide association studies identifies 3
            new loci for alcohol dependence
  JOURNAL   J Psychiatr Res 45 (11), 1419-1425 (2011)
   PUBMED   21703634
  REMARK    GeneRIF: Several flanking SNPs of the top hits in the meta-analysis
            demonstrated borderline associations with alcohol dependence in the
            family sample for KIAA0040, NRD1 and THSD7B, respectively.
REFERENCE   4  (residues 1 to 99)
  AUTHORS   Peng W, Wang HY, Miyahara Y, Peng G and Wang RF.
  TITLE     Tumor-associated galectin-3 modulates the function of
            tumor-reactive T cells
  JOURNAL   Cancer Res 68 (17), 7228-7236 (2008)
   PUBMED   18757439
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA852435.1, DA414485.1, Z99715.1 and AL049800.1.
            On Feb 2, 2016 this sequence version replaced XP_005245685.1.
            
            Transcript Variant: This variant (5) differs in the 5' UTR compared
            to variant 1. All six variants encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.252213.1,
                                           SRR1803615.183765.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..99
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.1"
     Protein         1..99
                     /product="uncharacterized protein KIAA0040"
                     /calculated_mol_wt=11304
     Site            27..47
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15053.2)"
     Region          54..81
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15053.2)"
     CDS             1..99
                     /gene="KIAA0040"
                     /coded_by="NM_001319230.2:438..737"
                     /db_xref="CCDS:CCDS86034.1"
                     /db_xref="GeneID:9674"
                     /db_xref="HGNC:HGNC:28950"
                     /db_xref="MIM:616696"
ORIGIN      
        1 merisaffss iwdtiltkhq egiynticlg vllglpllvi itllficchc cwsppgkrgq
       61 qpeknkkkkk kkkkkdeedl wisaqpkllq mekrpslpv
//
LOCUS       NP_001036189             538 aa            linear   PRI 25-DEC-2022
DEFINITION  nectin-2 isoform delta precursor [Homo sapiens].
ACCESSION   NP_001036189
VERSION     NP_001036189.1
DBSOURCE    REFSEQ: accession NM_001042724.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 538)
  AUTHORS   Liang X, Liu C, Liu K, Cong L, Wang Y, Liu R, Fa W, Tian N, Cheng
            Y, Wang N, Hou T, Du Y and Qiu C.
  TITLE     Association and interaction of TOMM40 and PVRL2 with plasma
            amyloid-beta and Alzheimer's disease among Chinese older adults: a
            population-based study
  JOURNAL   Neurobiol Aging 113, 143-151 (2022)
   PUBMED   35093267
  REMARK    GeneRIF: Association and interaction of TOMM40 and PVRL2 with
            plasma amyloid-beta and Alzheimer's disease among Chinese older
            adults: a population-based study.
REFERENCE   2  (residues 1 to 538)
  AUTHORS   Ogawa H, Fujikura D, Namba H, Yamashita N, Honda T and Yamada M.
  TITLE     Nectin-2 Acts as a Viral Entry Mediated Molecule That Binds to
            Human Herpesvirus 6B Glycoprotein B
  JOURNAL   Viruses 14 (1), 160 (2022)
   PUBMED   35062364
  REMARK    GeneRIF: Nectin-2 Acts as a Viral Entry Mediated Molecule That
            Binds to Human Herpesvirus 6B Glycoprotein B.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 538)
  AUTHORS   Mizutani K, Miyata M, Shiotani H, Kameyama T and Takai Y.
  TITLE     Nectin-2 in general and in the brain
  JOURNAL   Mol Cell Biochem 477 (1), 167-180 (2022)
   PUBMED   34633611
  REMARK    GeneRIF: Nectin-2 in general and in the brain.
            Review article
REFERENCE   4  (residues 1 to 538)
  AUTHORS   Chashchina A, Marklin M, Hinterleitner C, Salih HR, Heitmann JS and
            Klimovich B.
  TITLE     DNAM-1/CD226 is functionally expressed on acute myeloid leukemia
            (AML) cells and is associated with favorable prognosis
  JOURNAL   Sci Rep 11 (1), 18012 (2021)
   PUBMED   34504191
  REMARK    GeneRIF: DNAM-1/CD226 is functionally expressed on acute myeloid
            leukemia (AML) cells and is associated with favorable prognosis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 538)
  AUTHORS   Szymczak S, Dose J, Torres GG, Heinsen FA, Venkatesh G, Datlinger
            P, Nygaard M, Mengel-From J, Flachsbart F, Klapper W, Christensen
            K, Lieb W, Schreiber S, Hasler R, Bock C, Franke A and Nebel A.
  TITLE     DNA methylation QTL analysis identifies new regulators of human
            longevity
  JOURNAL   Hum Mol Genet 29 (7), 1154-1167 (2020)
   PUBMED   32160291
  REMARK    GeneRIF: DNA methylation QTL analysis identifies new regulators of
            human longevity.
REFERENCE   6  (residues 1 to 538)
  AUTHORS   Shukla D, Rowe CL, Dong Y, Racaniello VR and Spear PG.
  TITLE     The murine homolog (Mph) of human herpesvirus entry protein B
            (HveB) mediates entry of pseudorabies virus but not herpes simplex
            virus types 1 and 2
  JOURNAL   J Virol 73 (5), 4493-4497 (1999)
   PUBMED   10196354
REFERENCE   7  (residues 1 to 538)
  AUTHORS   Lopez M, Aoubala M, Jordier F, Isnardon D, Gomez S and Dubreuil P.
  TITLE     The human poliovirus receptor related 2 protein is a new
            hematopoietic/endothelial homophilic adhesion molecule
  JOURNAL   Blood 92 (12), 4602-4611 (1998)
   PUBMED   9845526
REFERENCE   8  (residues 1 to 538)
  AUTHORS   Warner MS, Geraghty RJ, Martinez WM, Montgomery RI, Whitbeck JC, Xu
            R, Eisenberg RJ, Cohen GH and Spear PG.
  TITLE     A cell surface protein with herpesvirus entry activity (HveB)
            confers susceptibility to infection by mutants of herpes simplex
            virus type 1, herpes simplex virus type 2, and pseudorabies virus
  JOURNAL   Virology 246 (1), 179-189 (1998)
   PUBMED   9657005
REFERENCE   9  (residues 1 to 538)
  AUTHORS   Freistadt MS and Eberle KE.
  TITLE     Physical association between CD155 and CD44 in human monocytes
  JOURNAL   Mol Immunol 34 (18), 1247-1257 (1997)
   PUBMED   9683266
REFERENCE   10 (residues 1 to 538)
  AUTHORS   Eberle F, Dubreuil P, Mattei MG, Devilard E and Lopez M.
  TITLE     The human PRR2 gene, related to the human poliovirus receptor gene
            (PVR), is the true homolog of the murine MPH gene
  JOURNAL   Gene 159 (2), 267-272 (1995)
   PUBMED   7622062
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN410857.1, X80038.1,
            CN359643.1 and AJ708439.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a single-pass type I membrane
            glycoprotein with two Ig-like C2-type domains and an Ig-like V-type
            domain. This protein is one of the plasma membrane components of
            adherens junctions. It also serves as an entry for certain mutant
            strains of herpes simplex virus and pseudorabies virus, and it is
            involved in cell to cell spreading of these viruses. Variations in
            this gene have been associated with differences in the severity of
            multiple sclerosis. Alternate transcriptional splice variants,
            encoding different isoforms, have been characterized. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (delta) represents the longer
            transcript and encodes the longer isoform (delta).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.422840.1,
                                           SRR1660809.219310.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252483.10/ ENSP00000252483.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..538
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     Protein         1..538
                     /product="nectin-2 isoform delta precursor"
                     /note="poliovirus receptor-like 2; herpesvirus entry
                     protein B; nectin-2; poliovirus receptor-related 2
                     (herpesvirus entry mediator B)"
                     /calculated_mol_wt=54464
     sig_peptide     1..31
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3296
     mat_peptide     32..538
                     /product="nectin-2 isoform delta"
                     /calculated_mol_wt=54464
     Region          34..158
                     /region_name="IgV_1_Nectin-2_NecL-5_like_CD112_CD155"
                     /note="First immunoglobulin variable (IgV) domain of
                     nectin-2, nectin-like protein 5, and similar domains;
                     cd20989"
                     /db_xref="CDD:409581"
     Region          34..57
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409581"
     Region          34..38
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409581"
     Region          40..44
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409581"
     Region          49..57
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409581"
     Region          58..65
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409581"
     Region          66..72
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409581"
     Region          67..72
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409581"
     Region          73..93
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409581"
     Region          83..88
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409581"
     Region          90..93
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409581"
     Region          94..144
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409581"
     Region          102..108
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409581"
     Region          122..129
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409581"
     Region          136..144
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409581"
     Site            137
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92692.1)"
     Region          145..148
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409581"
     Region          148..158
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409581"
     Region          149..158
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409581"
     Region          162..258
                     /region_name="IgC1_2_Nectin-2_Necl-5_like"
                     /note="Second immunoglobulin (Ig) domain of Nectin-2 and
                     Nectin-like protein 5, and similar domains; member of the
                     C1-set of the Ig superfamily (IgSF) domains; cd07703"
                     /db_xref="CDD:409500"
     Region          162..168
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409500"
     Region          179..186
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409500"
     Region          191..197
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409500"
     Region          199..201
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409500"
     Region          204..212
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409500"
     Region          217..225
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409500"
     Region          235..242
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409500"
     Region          248..254
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409500"
     Region          261..346
                     /region_name="Ig3_Nectin-5_like"
                     /note="Third immunoglobulin domain of Nectin-like
                     Protein-5, and similar domains; cd20930"
                     /db_xref="CDD:409524"
     Region          261..267
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409524"
     Region          279..283
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409524"
     Region          293..298
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409524"
     Region          300..303
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409524"
     Region          306..311
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409524"
     Region          312..318
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409524"
     Region          323..333
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409524"
     Site            324
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92692.1)"
     Region          336..346
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409524"
     Site            361..381
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92692.1)"
     Region          390..414
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92692.1)"
     Site            410
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92692.1)"
     Site            433
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q92692.1)"
     Region          462..489
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92692.1)"
     Site            465
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92692.1)"
     Site            470
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92692.1)"
     CDS             1..538
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /coded_by="NM_001042724.2:230..1846"
                     /note="isoform delta precursor is encoded by transcript
                     variant delta"
                     /db_xref="CCDS:CCDS42576.1"
                     /db_xref="GeneID:5819"
                     /db_xref="HGNC:HGNC:9707"
                     /db_xref="MIM:600798"
ORIGIN      
        1 maraaallps rspptpllwp llllllletg aqdvrvqvlp evrgqlggtv elpchllppv
       61 pglyislvtw qrpdapanhq nvaafhpkmg psfpspkpgs erlsfvsakq stgqdteael
      121 qdatlalhgl tvedegnytc efatfpkgsv rgmtwlrvia kpknqaeaqk vtfsqdpttv
      181 alciskegrp pariswlssl dweaketqvs gtlagtvtvt srftlvpsgr adgvtvtckv
      241 ehesfeepal ipvtlsvryp pevsisgydd nwylgrtdat lscdvrsnpe ptgydwstts
      301 gtfptsavaq gsqlvihavd slfnttfvct vtnavgmgra eqvifvretp ntagagatgg
      361 iiggiiaaii atavaatgil icrqqrkeqt lqgaeededl egppsykppt pkakleaqem
      421 psqlftlgas ehsplktpyf dagascteqe mpryhelptl eersgplhpg atslgspipv
      481 ppgppavedv sldledeege eeeeyldkin piydalsyss psdsyqgkgf vmsramyv
//
LOCUS       NP_490595                730 aa            linear   PRI 25-DEC-2022
DEFINITION  cyclin-T2 isoform b [Homo sapiens].
ACCESSION   NP_490595
VERSION     NP_490595.1
DBSOURCE    REFSEQ: accession NM_058241.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 730)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   2  (residues 1 to 730)
  AUTHORS   Wang F, Zhao QH, Liu JZ and Kong DL.
  TITLE     MiRNA-188-5p alleviates the progression of osteosarcoma via target
            degrading CCNT2
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (1), 29-35 (2020)
   PUBMED   31957815
  REMARK    GeneRIF: MiRNA-188-5p alleviates the progression of osteosarcoma
            via target degrading CCNT2.
REFERENCE   3  (residues 1 to 730)
  AUTHORS   Ke S, Li RC, Lu J, Meng FK, Feng YK and Fang MH.
  TITLE     MicroRNA-192 regulates cell proliferation and cell cycle transition
            in acute myeloid leukemia via interaction with CCNT2
  JOURNAL   Int J Hematol 106 (2), 258-265 (2017)
   PUBMED   28409330
  REMARK    GeneRIF: miR-192 inhibits cell proliferation and induces G0/G1 cell
            cycle arrest in AML by regulating the expression of CCNT2.
REFERENCE   4  (residues 1 to 730)
  AUTHORS   Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB,
            Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G,
            Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J,
            Graslund S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ
            and Greenblatt J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
REFERENCE   5  (residues 1 to 730)
  AUTHORS   Liu P, Xiang Y, Fujinaga K, Bartholomeeusen K, Nilson KA, Price DH
            and Peterlin BM.
  TITLE     Release of positive transcription elongation factor b (P-TEFb) from
            7SK small nuclear ribonucleoprotein (snRNP) activates hexamethylene
            bisacetamide-inducible protein (HEXIM1) transcription
  JOURNAL   J Biol Chem 289 (14), 9918-9925 (2014)
   PUBMED   24515107
  REMARK    GeneRIF: the release of P-TEFb from the 7SK snRNP led to increased
            synthesis of HEXIM1 but not HEXIM2
REFERENCE   6  (residues 1 to 730)
  AUTHORS   Napolitano G, Licciardo P, Gallo P, Majello B, Giordano A and Lania
            L.
  TITLE     The CDK9-associated cyclins T1 and T2 exert opposite effects on
            HIV-1 Tat activity
  JOURNAL   AIDS 13 (12), 1453-1459 (1999)
   PUBMED   10465067
REFERENCE   7  (residues 1 to 730)
  AUTHORS   Bieniasz PD, Grdina TA, Bogerd HP and Cullen BR.
  TITLE     Analysis of the effect of natural sequence variation in Tat and in
            cyclin T on the formation and RNA binding properties of Tat-cyclin
            T complexes
  JOURNAL   J Virol 73 (7), 5777-5786 (1999)
   PUBMED   10364329
REFERENCE   8  (residues 1 to 730)
  AUTHORS   Kwak YT, Ivanov D, Guo J, Nee E and Gaynor RB.
  TITLE     Role of the human and murine cyclin T proteins in regulating HIV-1
            tat-activation
  JOURNAL   J Mol Biol 288 (1), 57-69 (1999)
   PUBMED   10329126
REFERENCE   9  (residues 1 to 730)
  AUTHORS   Wimmer J, Fujinaga K, Taube R, Cujec TP, Zhu Y, Peng J, Price DH
            and Peterlin BM.
  TITLE     Interactions between Tat and TAR and human immunodeficiency virus
            replication are facilitated by human cyclin T1 but not cyclins T2a
            or T2b
  JOURNAL   Virology 255 (1), 182-189 (1999)
   PUBMED   10049833
REFERENCE   10 (residues 1 to 730)
  AUTHORS   Peng J, Zhu Y, Milton JT and Price DH.
  TITLE     Identification of multiple cyclin subunits of human P-TEFb
  JOURNAL   Genes Dev 12 (5), 755-762 (1998)
   PUBMED   9499409
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK294889.1, AK292913.1 and
            AC016725.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene belongs to the highly
            conserved cyclin family, whose members are characterized by a
            dramatic periodicity in protein abundance through the cell cycle.
            Cyclins function as regulators of CDK kinases. Different cyclins
            exhibit distinct expression and degradation patterns which
            contribute to the temporal coordination of each mitotic event. This
            cyclin and its kinase partner CDK9 were found to be subunits of the
            transcription elongation factor p-TEFb. The p-TEFb complex
            containing this cyclin was reported to interact with, and act as a
            negative regulator of human immunodeficiency virus type 1 (HIV-1)
            Tat protein. A pseudogene of this gene is found on chromosome 1.
            Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (b) contains an additional
            internal fragment in the 3' coding region, which results in a
            frameshift, compared to variant a. The resulting isoform (b) is
            longer and has a distinct C-terminus, compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.129851.1,
                                           SRR1660809.130149.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264157.10/ ENSP00000264157.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..730
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.3"
     Protein         1..730
                     /product="cyclin-T2 isoform b"
                     /note="cyclin T2a; cyclin T2b; SDS-stable vimentin-bound
                     DNA fragment HEF42VIM22; subunit of positive elongation
                     transcription factor b"
                     /calculated_mol_wt=80898
     Region          1..300
                     /region_name="Interaction with MDFIC and MDFI.
                     /evidence=ECO:0000269|PubMed:17289077"
                     /note="propagated from UniProtKB/Swiss-Prot (O60583.2)"
     Region          8..146
                     /region_name="CYCLIN_CCNT2_rpt1"
                     /note="first cyclin box found in cyclin-T2 (CCNT2);
                     cd20596"
                     /db_xref="CDD:410299"
     Site            order(10..11,71..72,88..89,92,95,98..101,129,133,136,
                     140..142,144..145)
                     /site_type="other"
                     /note="putative CDK interface [polypeptide binding]"
                     /db_xref="CDD:410299"
     Region          150..263
                     /region_name="CYCLIN_CCNT2_rpt2"
                     /note="second cyclin box found in cyclin-T2 (CCNT2);
                     cd20598"
                     /db_xref="CDD:410301"
     Site            order(162..164,168..169,171..172,201,205..210,215..216,
                     220,223,234,237..238,241)
                     /site_type="other"
                     /note="putative AF4 family member binding site
                     [polypeptide binding]"
                     /db_xref="CDD:410301"
     Region          250..300
                     /region_name="Interaction with POLR2A.
                     /evidence=ECO:0000269|PubMed:15563843"
                     /note="propagated from UniProtKB/Swiss-Prot (O60583.2)"
     Region          296..>427
                     /region_name="ROM1"
                     /note="RhoGEF, Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases [Signal transduction
                     mechanisms]; COG5422"
                     /db_xref="CDD:227709"
     Region          341..430
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60583.2)"
     Site            480
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60583.2)"
     Region          497..652
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60583.2)"
     Site            601
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19690332;
                     propagated from UniProtKB/Swiss-Prot (O60583.2)"
     CDS             1..730
                     /gene="CCNT2"
                     /gene_synonym="CYCT2"
                     /coded_by="NM_058241.3:34..2226"
                     /note="isoform b is encoded by transcript variant b"
                     /db_xref="CCDS:CCDS2174.1"
                     /db_xref="GeneID:905"
                     /db_xref="HGNC:HGNC:1600"
                     /db_xref="MIM:603862"
ORIGIN      
        1 masgrgassr wfftreqlen tpsrrcgvea dkelscrqqa anliqemgqr lnvsqltint
       61 aivymhrfym hhsftkfnkn iisstalfla akveeqarkl ehvikvahac lhpleplldt
      121 kcdaylqqtq elviletiml qtlgfeitie hphtdvvkct qlvraskdla qtsyfmatns
      181 lhlttfclqy kptviacvci hlackwsnwe ipvstdgkhw weyvdptvtl elldelthef
      241 lqilektpnr lkkirnwran qaarkpkvdg qvsetpllgs slvqnsilvd svtgvptnps
      301 fqkpstsafp apvplnsgni svqdshtsdn lsmlatgmps tsyglsshqe wpqhqdsart
      361 eqlysqkqet slsgsqynin fqqgpsislh sglhhrpdki sdhssvkqey thkagsskhh
      421 gpisttpgii pqkmsldkyr ekrkletldl dvrdhyiaaq veqqhkqgqs qaassssvts
      481 pikmkipian tekymadkke ksgslklrip ipptdksask eelkmkikvs sserhsssde
      541 gsgkskhssp hisrdhkekh kehpssrhht sshkhshshs gsssggskhs adgipptvlr
      601 spvglssdgi sssssssrkr lhvndashnh hskmskssks sgssssssss vkqyisshns
      661 vfnhplpppp pvtyqvgygh lstlvkldkk pvetngpdan heystssqhm dykdtfdmld
      721 sllsaqgmnm
//
LOCUS       NP_001137359             450 aa            linear   PRI 25-DEC-2022
DEFINITION  COP9 signalosome complex subunit 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001137359
VERSION     NP_001137359.1
DBSOURCE    REFSEQ: accession NM_001143887.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 450)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 450)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 450)
  AUTHORS   Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y,
            van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ,
            Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ,
            Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B,
            Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM,
            Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E,
            Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ,
            Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U,
            Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB and
            Roepman R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 450)
  AUTHORS   Zhang M, Li L, Xie W, Wu JF, Yao F, Tan YL, Xia XD, Liu XY, Liu D,
            Lan G, Zeng MY, Gong D, Cheng HP, Huang C, Zhao ZW, Zheng XL and
            Tang CK.
  TITLE     Apolipoprotein A-1 binding protein promotes macrophage cholesterol
            efflux by facilitating apolipoprotein A-1 binding to ABCA1 and
            preventing ABCA1 degradation
  JOURNAL   Atherosclerosis 248, 149-159 (2016)
   PUBMED   27017521
  REMARK    GeneRIF: AIBP promotes apoA-1 binding to ABCA1 on the cell membrane
            of macrophages and prevents ABCA1 protein from CSN2-mediated
            degradation so as to prevent foam cell formation
REFERENCE   5  (residues 1 to 450)
  AUTHORS   Zhao S, Tang H, Yan D, Fan J, Sun H, Wen Y, Yu F, Cui F, Zhang D,
            Xue Y, Liu C, Yue B, Chen J, Wang J, Wang X, Zhang M, Yu Y, Jiang
            W, Liu X, Mi Y, Zhou Z, Qin X and Peng Z.
  TITLE     DDA1 promotes stage IIB-IIC colon cancer progression by activating
            NFkappaB/CSN2/GSK-3beta signaling
  JOURNAL   Oncotarget 7 (15), 19794-19812 (2016)
   PUBMED   26942699
  REMARK    GeneRIF: Data indicate that DET1- and DDB1-associated protein 1
            (DDA1)-mediated tumor progression is associated with the activation
            of the NF-kappa B (NFkappaB)/COP9 signalosome 2(CSN2)/glycogen
            synthase kinase3beta (GSK3beta) pathway.
REFERENCE   6  (residues 1 to 450)
  AUTHORS   Dressel U, Thormeyer D, Altincicek B, Paululat A, Eggert M,
            Schneider S, Tenbaum SP, Renkawitz R and Baniahmad A.
  TITLE     Alien, a highly conserved protein with characteristics of a
            corepressor for members of the nuclear hormone receptor superfamily
  JOURNAL   Mol Cell Biol 19 (5), 3383-3394 (1999)
   PUBMED   10207062
REFERENCE   7  (residues 1 to 450)
  AUTHORS   Schaefer L, Beermann ML and Miller JB.
  TITLE     Coding sequence, genomic organization, chromosomal localization,
            and expression pattern of the signalosome component Cops2: the
            mouse homologue of Drosophila alien
  JOURNAL   Genomics 56 (3), 310-316 (1999)
   PUBMED   10087198
REFERENCE   8  (residues 1 to 450)
  AUTHORS   Wei N, Tsuge T, Serino G, Dohmae N, Takio K, Matsui M and Deng XW.
  TITLE     The COP9 complex is conserved between plants and mammals and is
            related to the 26S proteasome regulatory complex
  JOURNAL   Curr Biol 8 (16), 919-922 (1998)
   PUBMED   9707402
REFERENCE   9  (residues 1 to 450)
  AUTHORS   Seeger M, Kraft R, Ferrell K, Bech-Otschir D, Dumdey R, Schade R,
            Gordon C, Naumann M and Dubiel W.
  TITLE     A novel protein complex involved in signal transduction possessing
            similarities to 26S proteasome subunits
  JOURNAL   FASEB J 12 (6), 469-478 (1998)
   PUBMED   9535219
REFERENCE   10 (residues 1 to 450)
  AUTHORS   Lee JW, Choi HS, Gyuris J, Brent R and Moore DD.
  TITLE     Two classes of proteins dependent on either the presence or absence
            of thyroid hormone for interaction with the thyroid hormone
            receptor
  JOURNAL   Mol Endocrinol 9 (2), 243-254 (1995)
   PUBMED   7776974
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB059510.1, AB209799.1, BX648602.1, CN281648.1, BM667648.1 and
            AC013452.9.
            
            Transcript Variant: This variant (2) represents the longer
            transcript and encodes the longer isoform (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.14374.1,
                                           SRR1803616.197929.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..450
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     Protein         1..450
                     /product="COP9 signalosome complex subunit 2 isoform 2"
                     /note="COP9 signalosome complex subunit 2; JAB1-containing
                     signalosome subunit 2; TRIP-15; alien homolog;
                     TR-interacting protein 15; thyroid receptor-interacting
                     protein 15; COP9 constitutive photomorphogenic homolog
                     subunit 2"
                     /calculated_mol_wt=52274
     Region          40..441
                     /region_name="RPN6"
                     /note="26S proteasome regulatory complex component
                     [Posttranslational modification, protein turnover,
                     chaperones]; COG5159"
                     /db_xref="CDD:227488"
     Region          316..420
                     /region_name="PCI"
                     /note="PCI domain; pfam01399"
                     /db_xref="CDD:396121"
     CDS             1..450
                     /gene="COPS2"
                     /gene_synonym="ALIEN; CSN2; SGN2; TRIP15"
                     /coded_by="NM_001143887.2:22..1374"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS45257.1"
                     /db_xref="GeneID:9318"
                     /db_xref="HGNC:HGNC:30747"
                     /db_xref="MIM:604508"
ORIGIN      
        1 msdmeddfmc ddeedydley sedsnsepnv dlenqyynsk alkeddpkaa lssfqkvlel
       61 egekgewgfk alkqmikinf kltnfpemmn rykqlltyir savtrnysek sinsildyis
      121 tskqnsdflc qmdllqefye ttlealkdak ndrlwfktnt klgklylere eygklqkilr
      181 qlhqscqtdd geddlkkgtq lleiyaleiq mytaqknnkk lkalyeqslh iksaiphpli
      241 mgvirecggk mhlregefek ahtdffeafk nydesgsprr ttclkylvla nmlmksginp
      301 fdsqeakpyk ndpeilamtn lvsayqnndi tefekilktn hsnimddpfi rehieellrn
      361 irtqvlikli kpytrihipf iskelnidva dvesllvqci ldntihgrid qvnqlleldh
      421 qkrggaryta ldkwtnqlns lnqavvskla
//
LOCUS       NP_001332928             632 aa            linear   PRI 26-DEC-2022
DEFINITION  WD repeat-containing protein 70 isoform 3 [Homo sapiens].
ACCESSION   NP_001332928
VERSION     NP_001332928.1
DBSOURCE    REFSEQ: accession NM_001345999.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 632)
  AUTHORS   Tang ZZ, Wang HB, Zeng M, Liu C and Li DH.
  TITLE     [DNA Repair Function and Mutation of an H2B Monoubiquitination
            Factor WDR70 in Ovarian Cancer]
  JOURNAL   Sichuan Da Xue Xue Bao Yi Xue Ban 48 (5), 693-698 (2017)
   PUBMED   29130659
  REMARK    GeneRIF: Ovarian cancer had different expression of WDR70 and H2B
            monoubiquitination compared with normal tissue
REFERENCE   2  (residues 1 to 632)
  AUTHORS   Guo LD, Wang D, Yang F, Liang YJ, Yang XQ, Qin YY, Ren LF, Zeng M,
            Tang ZZ, Wang XJ, Wang S, Liu C, Lou JY and Chen J.
  TITLE     [Functional Analysis of DNA Damage Repair Factor WDR70 and Its
            Mutation in Ovarian Cancer]
  JOURNAL   Sichuan Da Xue Xue Bao Yi Xue Ban 47 (4), 501-506 (2016)
   PUBMED   28591950
REFERENCE   3  (residues 1 to 632)
  AUTHORS   Zeng M, Ren L, Mizuno K, Nestoras K, Wang H, Tang Z, Guo L, Kong D,
            Hu Q, He Q, Du L, Carr AM and Liu C.
  TITLE     CRL4(Wdr70) regulates H2B monoubiquitination and facilitates
            Exo1-dependent resection
  JOURNAL   Nat Commun 7, 11364 (2016)
   PUBMED   27098497
  REMARK    GeneRIF: CRL4(Wdr70) regulates H2B monoubiquitination and
            facilitates Exo1-dependent DNA repair resection.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC117532.2, AC025469.6 and AC093269.3.
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (3) has the same
            N- and C-termini but is shorter compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.155437.1,
                                           SRR1163655.347970.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..632
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     Protein         1..632
                     /product="WD repeat-containing protein 70 isoform 3"
                     /note="WD repeat-containing protein 70"
                     /calculated_mol_wt=70933
     Region          155..476
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(159,177,181,187..188,204,208,224,228,234..235,247,
                     260,283,289..290,309,326,331,337..338,352..353,373,377,
                     383..384,394..395,417,428,434..435,447..448,466,470,476)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          163..205
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          211..259
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          264..302
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          314..354
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          360..396
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          404..448
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          452..476
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..632
                     /gene="WDR70"
                     /coded_by="NM_001345999.2:51..1949"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:55100"
                     /db_xref="HGNC:HGNC:25495"
                     /db_xref="MIM:617233"
ORIGIN      
        1 mersgpsegk kartfdleam feqtrrtave rsrktleare keeemnreke lrrqnediep
       61 tssrsnvvrd csksssrdts sseseqssds sddeligppl ppkmvgkpvn fmeedilgpl
      121 ppplneeeee aeeeeeeeee eenpvhkipd sheitlkhgt ktvsalgldp sgarlvtggy
      181 dydvkfwdfa gmdasfkafr slqpcechqi kslqysntgd milvvsgssq akvidrdgfe
      241 vmecikgdqy ivdmantkgh tamlhtgswh pkikgefmtc sndatvrtwe venpkkqksv
      301 fkprtmqgkk vipttctysr dgnliaaacq ngsiqiwdrn ltvhpkfhyk qahdsgtdts
      361 cvtfsydgnv lasrggddsl klwdirqfnk plfsasglpt mfpmtdccfs pddklivtgt
      421 siqrgcgsgk lvfferrtfq rvyeiditda svvrclwhpk lnqimvgtgn glakvyydpn
      481 ksqrgaklcv vktqrkakqa etltqdyiit phalpmfrep rqrstrkqle kdrldplksh
      541 kpeppvagpg rggrvgthgg tlssyivkni aldktddsnp reailrhaka aedspywvsp
      601 aysktqpktm faqvesddee aknepewkkr ki
//
LOCUS       NP_001309906             322 aa            linear   PRI 26-DEC-2022
DEFINITION  sideroflexin-1 isoform 1 [Homo sapiens].
ACCESSION   NP_001309906
VERSION     NP_001309906.1
DBSOURCE    REFSEQ: accession NM_001322977.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 322)
  AUTHORS   Chen L, Kang Y, Jiang Y, You J, Huang C, Xu X and Chen F.
  TITLE     Overexpression of SFXN1 indicates poor prognosis and promotes tumor
            progression in lung adenocarcinoma
  JOURNAL   Pathol Res Pract 237, 154031 (2022)
   PUBMED   35878532
  REMARK    GeneRIF: Overexpression of SFXN1 indicates poor prognosis and
            promotes tumor progression in lung adenocarcinoma.
REFERENCE   2  (residues 1 to 322)
  AUTHORS   Acoba MG, Alpergin ESS, Renuse S, Fernandez-Del-Rio L, Lu YW,
            Khalimonchuk O, Clarke CF, Pandey A, Wolfgang MJ and Claypool SM.
  TITLE     The mitochondrial carrier SFXN1 is critical for complex III
            integrity and cellular metabolism
  JOURNAL   Cell Rep 34 (11), 108869 (2021)
   PUBMED   33730581
  REMARK    GeneRIF: The mitochondrial carrier SFXN1 is critical for complex
            III integrity and cellular metabolism.
REFERENCE   3  (residues 1 to 322)
  AUTHORS   Zhang Y, Yang H, Zhang Y, Shi J, Chen R and Xiao X.
  TITLE     CircSFXN1 regulates the behaviour of trophoblasts and likely
            mediates preeclampsia
  JOURNAL   Placenta 101, 115-123 (2020)
   PUBMED   32950919
  REMARK    GeneRIF: CircSFXN1 regulates the behaviour of trophoblasts and
            likely mediates preeclampsia.
REFERENCE   4  (residues 1 to 322)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 322)
  AUTHORS   Kory N, Wyant GA, Prakash G, Uit de Bos J, Bottanelli F, Pacold ME,
            Chan SH, Lewis CA, Wang T, Keys HR, Guo YE and Sabatini DM.
  TITLE     SFXN1 is a mitochondrial serine transporter required for one-carbon
            metabolism
  JOURNAL   Science 362 (6416) (2018)
   PUBMED   30442778
  REMARK    GeneRIF: SFXN1 functions as a mitochondrial serine transporter in
            one-carbon metabolism.
REFERENCE   6  (residues 1 to 322)
  AUTHORS   Giudetti AM, Sabetta S, di Summa R, Leo M, Damiano F, Siculella L
            and Gnoni GV.
  TITLE     Differential effects of coconut oil- and fish oil-enriched diets on
            tricarboxylate carrier in rat liver mitochondria
  JOURNAL   J Lipid Res 44 (11), 2135-2141 (2003)
   PUBMED   14634051
REFERENCE   7  (residues 1 to 322)
  AUTHORS   Miyake S, Yamashita T, Taniguchi M, Tamatani M, Sato K and Tohyama
            M.
  TITLE     Identification and characterization of a novel mitochondrial
            tricarboxylate carrier
  JOURNAL   Biochem Biophys Res Commun 295 (2), 463-468 (2002)
   PUBMED   12150972
REFERENCE   8  (residues 1 to 322)
  AUTHORS   Zara V, Giudetti AM, Siculella L, Palmieri F and Gnoni GV.
  TITLE     Covariance of tricarboxylate carrier activity and lipogenesis in
            liver of polyunsaturated fatty acid (n-6) fed rats
  JOURNAL   Eur J Biochem 268 (22), 5734-5739 (2001)
   PUBMED   11722557
REFERENCE   9  (residues 1 to 322)
  AUTHORS   Fleming MD, Campagna DR, Haslett JN, Trenor CC 3rd and Andrews NC.
  TITLE     A mutation in a mitochondrial transmembrane protein is responsible
            for the pleiotropic hematological and skeletal phenotype of
            flexed-tail (f/f) mice
  JOURNAL   Genes Dev 15 (6), 652-657 (2001)
   PUBMED   11274051
REFERENCE   10 (residues 1 to 322)
  AUTHORS   Kaplan RS and Mayor JA.
  TITLE     Structure, function and regulation of the tricarboxylate transport
            protein from rat liver mitochondria
  JOURNAL   J Bioenerg Biomembr 25 (5), 503-514 (1993)
   PUBMED   8132490
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091393.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.162962.1,
                                           SRR1660803.88779.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..322
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.2"
     Protein         1..322
                     /product="sideroflexin-1 isoform 1"
                     /note="tricarboxylate carrier protein"
                     /calculated_mol_wt=35488
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine. /evidence=ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     Region          10..322
                     /region_name="Mtc"
                     /note="Tricarboxylate carrier; pfam03820"
                     /db_xref="CDD:397754"
     Site            103..120
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     Site            147..167
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     Site            175..195
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     Site            229..249
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     Site            267..287
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     CDS             1..322
                     /gene="SFXN1"
                     /gene_synonym="SLC56A1; TCC"
                     /coded_by="NM_001322977.2:118..1086"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS4394.1"
                     /db_xref="GeneID:94081"
                     /db_xref="HGNC:HGNC:16085"
                     /db_xref="MIM:615569"
ORIGIN      
        1 msgelppnin ikeprwdqst figranhfft vtdprnillt neqlesarki vhdyrqgivp
       61 pgltenelwr akyiydsafh pdtgekmili grmsaqvpmn mtitgcmmtf yrttpavlfw
      121 qwinqsfnav vnytnrsgda pltvnelgta yvsattgava talglnaltk hvspligrfv
      181 pfaavaaanc iniplmrqre lkvgipvtde ngnrlgesan aakqaitqvv vsrilmaapg
      241 maippfimnt lekkaflkrf pwmsapiqvg lvgfclvfat plccalfpqk ssmsvtslea
      301 elqakiqesh pelrrvyfnk gl
//
LOCUS       NP_001265587             405 aa            linear   PRI 27-DEC-2022
DEFINITION  solute carrier family 2, facilitated glucose transporter member 2
            isoform 2 [Homo sapiens].
ACCESSION   NP_001265587
VERSION     NP_001265587.1
DBSOURCE    REFSEQ: accession NM_001278658.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 405)
  AUTHORS   Chen H, Zhang X, Liao N, Ji Y, Mi L, Gan Y, Su Y and Wen F.
  TITLE     Decreased expression of Glucagon-like peptide-1 receptor and
            Sodium-glucose co-transporter 2 in patients with proliferative
            diabetic retinopathy
  JOURNAL   Front Endocrinol (Lausanne) 13, 1020252 (2022)
   PUBMED   36465606
  REMARK    GeneRIF: Decreased expression of Glucagon-like peptide-1 receptor
            and Sodium-glucose co-transporter 2 in patients with proliferative
            diabetic retinopathy.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 405)
  AUTHORS   Grunert SC, Schumann A, Baronio F, Tsiakas K, Murko S,
            Spiekerkoetter U and Santer R.
  TITLE     Evidence for a Genotype-Phenotype Correlation in Patients with
            Pathogenic GLUT2 (SLC2A2) Variants
  JOURNAL   Genes (Basel) 12 (11), 1785 (2021)
   PUBMED   34828390
  REMARK    GeneRIF: Evidence for a Genotype-Phenotype Correlation in Patients
            with Pathogenic GLUT2 (SLC2A2) Variants.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 405)
  AUTHORS   Schmidl S, Ursu O, Iancu CV, Oreb M, Oprea TI and Choe JY.
  TITLE     Identification of new GLUT2-selective inhibitors through in silico
            ligand screening and validation in eukaryotic expression systems
  JOURNAL   Sci Rep 11 (1), 13751 (2021)
   PUBMED   34215797
  REMARK    GeneRIF: Identification of new GLUT2-selective inhibitors through
            in silico ligand screening and validation in eukaryotic expression
            systems.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 405)
  AUTHORS   Low BSJ, Lim CS, Ding SSL, Tan YS, Ng NHJ, Krishnan VG, Ang SF, Neo
            CWY, Verma CS, Hoon S, Lim SC, Tai ES and Teo AKK.
  TITLE     Decreased GLUT2 and glucose uptake contribute to insulin secretion
            defects in MODY3/HNF1A hiPSC-derived mutant beta cells
  JOURNAL   Nat Commun 12 (1), 3133 (2021)
   PUBMED   34035238
  REMARK    GeneRIF: Decreased GLUT2 and glucose uptake contribute to insulin
            secretion defects in MODY3/HNF1A hiPSC-derived mutant beta cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 405)
  AUTHORS   Watanabe H, Yamazaki Y, Fujishima F, Izumi K, Imamura M, Hijioka S,
            Toriyama K, Yatabe Y, Kudo A, Motoi F, Unno M and Sasano H.
  TITLE     O6-methylguanine DNA methyltransferase and glucose transporter 2 in
            foregut and hindgut gastrointestinal neuroendocrine neoplasms
  JOURNAL   BMC Cancer 20 (1), 1195 (2020)
   PUBMED   33287738
  REMARK    GeneRIF: O(6)-methylguanine DNA methyltransferase and glucose
            transporter 2 in foregut and hindgut gastrointestinal
            neuroendocrine neoplasms.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 405)
  AUTHORS   Ban N, Yamada Y, Someya Y, Miyawaki K, Ihara Y, Hosokawa M,
            Toyokuni S, Tsuda K and Seino Y.
  TITLE     Hepatocyte nuclear factor-1alpha recruits the transcriptional
            co-activator p300 on the GLUT2 gene promoter
  JOURNAL   Diabetes 51 (5), 1409-1418 (2002)
   PUBMED   11978637
  REMARK    GeneRIF: Hepatocyte nuclear factor-1alpha recruits the
            transcriptional co-activator p300 on the GLUT2 gene promoter.
REFERENCE   7  (residues 1 to 405)
  AUTHORS   Patel P, Lo YM, Bell GI, Turner RC and Wainscoat JS.
  TITLE     Dinucleotide repeat polymorphism at the human GLUT2 locus
  JOURNAL   Nucleic Acids Res 19 (14), 4017 (1991)
   PUBMED   1862003
REFERENCE   8  (residues 1 to 405)
  AUTHORS   Froguel P, Zouali H, Sun F, Velho G, Fukumoto H, Passa P and Cohen
            D.
  TITLE     CA repeat polymorphism in the glucose transporter GLUT 2 gene
  JOURNAL   Nucleic Acids Res 19 (13), 3754 (1991)
   PUBMED   1852621
REFERENCE   9  (residues 1 to 405)
  AUTHORS   Fukumoto H, Kayano T, Buse JB, Edwards Y, Pilch PF, Bell GI and
            Seino S.
  TITLE     Cloning and characterization of the major insulin-responsive
            glucose transporter expressed in human skeletal muscle and other
            insulin-responsive tissues
  JOURNAL   J Biol Chem 264 (14), 7776-7779 (1989)
   PUBMED   2656669
REFERENCE   10 (residues 1 to 405)
  AUTHORS   Fukumoto H, Seino S, Imura H, Seino Y, Eddy RL, Fukushima Y, Byers
            MG, Shows TB and Bell GI.
  TITLE     Sequence, tissue distribution, and chromosomal localization of mRNA
            encoding a human glucose transporter-like protein
  JOURNAL   Proc Natl Acad Sci U S A 85 (15), 5434-5438 (1988)
   PUBMED   3399500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK298418.1, J03810.1 and
            AC061708.17.
            
            Summary: This gene encodes an integral plasma membrane glycoprotein
            of the liver, islet beta cells, intestine, and kidney epithelium.
            The encoded protein mediates facilitated bidirectional glucose
            transport. Because of its low affinity for glucose, it has been
            suggested as a glucose sensor. Mutations in this gene are
            associated with susceptibility to diseases, including
            Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus
            (NIDDM). Alternative splicing results in multiple transcript
            variants of this gene. [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks
            an alternate exon in the 5' coding region and initiates translation
            at an alternate start codon, compared to variant 1. It encodes
            isoform 2 which is shorter and has a distinct N-terminus, compared
            to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments and
            experimental data in the literature (PMID: 11978637).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK298418.1, SRR5189664.123795.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155590, SAMN04284274
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..405
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.2"
     Protein         1..405
                     /product="solute carrier family 2, facilitated glucose
                     transporter member 2 isoform 2"
                     /note="glucose transporter type 2, liver; solute carrier
                     family 2 (facilitated glucose transporter), member 2"
                     /calculated_mol_wt=44571
     Region          3..371
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     Site            order(46..47,49..51,54,74,77..78,81,192,195..196,199..201,
                     204,230,234,292..293,297,301,317,320..321,324..325,328)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:349949"
     CDS             1..405
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /coded_by="NM_001278658.2:145..1362"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:6514"
                     /db_xref="HGNC:HGNC:11006"
                     /db_xref="MIM:138160"
ORIGIN      
        1 mhlnrikaml vanilslvga llmgfsklgp shiliiagrs isglycglis glvpmyigei
       61 aptalrgalg tfhqlaivtg ilisqiigle filgnydlwh illglsgvra ilqslllffc
      121 pesprylyik ldeevkakqs lkrlrgyddv tkdinemrke reeasseqkv siiqlftnss
      181 yrqpilvalm lhvaqqfsgi ngifyystsi fqtagiskpv yatigvgavn mvftavsvfl
      241 vekagrrslf ligmsgmfvc aifmsvglvl lnkfswmsyv smiaiflfvs ffeigpgpip
      301 wfmvaeffsq gprpaalaia afsnwtcnfi valcfqyiad fcgpyvfflf agvllaftlf
      361 tffkvpetkg ksfeeiaaef qkksgsahrp kaavemkflg atetv
//
LOCUS       NP_001243583             744 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger protein 43 isoform 4 [Homo sapiens].
ACCESSION   NP_001243583
VERSION     NP_001243583.1
DBSOURCE    REFSEQ: accession NM_001256654.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 744)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   2  (residues 1 to 744)
  AUTHORS   Takahashi T, Furuchi T and Naganuma A.
  TITLE     Endocytic Ark/Prk kinases play a critical role in adriamycin
            resistance in both yeast and mammalian cells
  JOURNAL   Cancer Res 66 (24), 11932-11937 (2006)
   PUBMED   17178891
  REMARK    GeneRIF: Human embryo kidney cells that overexpressed AAK1 are
            adriamycin resistant
REFERENCE   3  (residues 1 to 744)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   4  (residues 1 to 744)
  AUTHORS   Bellefroid EJ, Marine JC, Ried T, Lecocq PJ, Riviere M, Amemiya C,
            Poncelet DA, Coulie PG, de Jong P, Szpirer C et al.
  TITLE     Clustered organization of homologous KRAB zinc-finger genes with
            enhanced expression in human T lymphoid cells
  JOURNAL   EMBO J 12 (4), 1363-1374 (1993)
   PUBMED   8467795
REFERENCE   5  (residues 1 to 744)
  AUTHORS   Lovering R and Trowsdale J.
  TITLE     A gene encoding 22 highly related zinc fingers is expressed in
            lymphoid cell lines
  JOURNAL   Nucleic Acids Res 19 (11), 2921-2928 (1991)
   PUBMED   1711675
REFERENCE   6  (residues 1 to 744)
  AUTHORS   Bellefroid EJ, Poncelet DA, Lecocq PJ, Revelant O and Martial JA.
  TITLE     The evolutionarily conserved Kruppel-associated box domain defines
            a subfamily of eukaryotic multifingered proteins
  JOURNAL   Proc Natl Acad Sci U S A 88 (9), 3608-3612 (1991)
   PUBMED   2023909
REFERENCE   7  (residues 1 to 744)
  AUTHORS   Huebner K, Druck T, Croce CM and Thiesen HJ.
  TITLE     Twenty-seven nonoverlapping zinc finger cDNAs from human T cells
            map to nine different chromosomes with apparent clustering
  JOURNAL   Am J Hum Genet 48 (4), 726-740 (1991)
   PUBMED   2014798
REFERENCE   8  (residues 1 to 744)
  AUTHORS   Thiesen HJ.
  TITLE     Multiple genes encoding zinc finger domains are expressed in human
            T cells
  JOURNAL   New Biol 2 (4), 363-374 (1990)
   PUBMED   2288909
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB158705.1, AC010617.8 and AC092364.3.
            
            Summary: This gene belongs to the C2H2-type zinc finger gene
            family. The zinc finger proteins are involved in gene regulation
            and development, and are quite conserved throughout evolution. Like
            this gene product, a third of the zinc finger proteins containing
            C2H2 fingers also contain the KRAB domain, which has been found to
            be involved in protein-protein interactions. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (7) differs in the 5' UTR, lacks
            an exon in the 5' coding region and initiates translation at a
            downstream, in-frame start codon, compared to variant 1. Variants 6
            and 7 encode the same isoform (4), which has a shorter N-terminus
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.63971.1,
                                           SRR1660805.52229.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267762, SAMN03267768
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..744
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p12"
     Protein         1..744
                     /product="zinc finger protein 43 isoform 4"
                     /note="zinc finger protein 39-like 1 (KOX 27); zinc finger
                     protein KOX27; zinc finger protein HTF6"
                     /calculated_mol_wt=86362
     Region          84..103
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Region          111..131
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          139..159
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          167..187
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          195..215
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          221..689
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          223..243
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(228,230,232,234..235,238..239,242,256,258,262..263,
                     266..267,270,284,286,288,290..291,294..295,298)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          251..271
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          279..299
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          307..327
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          335..355
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(340,342,344,346..347,350..351,354,368,370,374..375,
                     378..379,382,396,398,400,402..403,406..407,410)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          363..383
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          391..411
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          447..467
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(452,454,456,458..459,462..463,466,480,482,486..487,
                     490..491,494,508,510,512,514..515,518..519,522)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          475..495
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          503..523
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          531..551
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          559..579
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          587..607
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(592,594,596,598..599,602..603,606,620,622,626..627,
                     630..631,634,648,650,652,654..655,658..659,662)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          615..635
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          643..663
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          668..>729
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          671..691
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          699..719
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..744
                     /gene="ZNF43"
                     /gene_synonym="HTF6; KOX27; ZNF39L1"
                     /coded_by="NM_001256654.2:213..2447"
                     /note="isoform 4 is encoded by transcript variant 7"
                     /db_xref="GeneID:7594"
                     /db_xref="HGNC:HGNC:13109"
                     /db_xref="MIM:603972"
ORIGIN      
        1 mrrhemvakp pvmcshftqd fwpeqhikdp fqkatlrryk ncehknvhlk kdhksvdeck
       61 vhrggyngfn qclpatqski flfdkcvkaf hkfsnsnrhk ishtekklfk ckecgksfcm
      121 lphlaqhkii htrvnfckce kcgkafncps iitkhkrint gekpytceec gkvfnwssrl
      181 tthkknytry klykceecgk afnkssiltt hkiirtgekf ykckecakaf nqssnltehk
      241 kihpgekpyk ceecgkafnw pstltkhkri htgekpytce ecgkafnqfs nltthkriht
      301 aekfykctec geafsrssnl tkhkkihtek kpykceecgk afkwssklte hklthtgekp
      361 ykceecgkaf nwpstltkhn rihtgekpyk cevcgkafnq fsnltthkri htaekpykce
      421 ecgkafsrss nltkhkkihi ekkpykceec gkafkwsskl tehkithtge kpykceecgk
      481 afnhfsiltk hkrihtgekp ykceecgkaf tqssnltthk kihtgekfyk ceecgkaftq
      541 ssnltthkki htggkpykce ecgkafnqfs tltkhkiiht eekpykceec gkafkwsstl
      601 tkhkiihtge kpykceecgk afklsstlst hkiihtgekp ykcekcgkaf nrssnliehk
      661 kihtgeqpyk ceecgkafny sshlnthkri htkeqpykck ecgkafnqys nltthnkiht
      721 geklykpedv tvilttpqtf snik
//
LOCUS       NP_001351319             445 aa            linear   PRI 27-DEC-2022
DEFINITION  alpha-1,3-mannosyl-glycoprotein
            2-beta-N-acetylglucosaminyltransferase [Homo sapiens].
ACCESSION   NP_001351319
VERSION     NP_001351319.1
DBSOURCE    REFSEQ: accession NM_001364390.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 445)
  AUTHORS   Bi W, Yang M, Xing P and Huang T.
  TITLE     MicroRNA miR-331-3p suppresses osteosarcoma progression via the
            Bcl-2/Bax and Wnt/beta-Catenin signaling pathways and the
            epithelial-mesenchymal transition by targeting
            N-acetylglucosaminyltransferase I (MGAT1)
  JOURNAL   Bioengineered 13 (6), 14159-14174 (2022)
   PUBMED   35758024
  REMARK    GeneRIF: MicroRNA miR-331-3p suppresses osteosarcoma progression
            via the Bcl-2/Bax and Wnt/beta-Catenin signaling pathways and the
            epithelial-mesenchymal transition by targeting
            N-acetylglucosaminyltransferase I (MGAT1).
REFERENCE   2  (residues 1 to 445)
  AUTHORS   Akintayo A, Mayoral J, Asada M, Tang J, Sundaram S and Stanley P.
  TITLE     Point mutations that inactivate MGAT4D-L, an inhibitor of MGAT1 and
            complex N-glycan synthesis
  JOURNAL   J Biol Chem 295 (41), 14053-14064 (2020)
   PUBMED   32763972
  REMARK    GeneRIF: Point mutations that inactivate MGAT4D-L, an inhibitor of
            MGAT1 and complex N-glycan synthesis.
REFERENCE   3  (residues 1 to 445)
  AUTHORS   Li Y, Liu Y, Zhu H, Chen X, Tian M, Wei Y, Gong Y and Jiang J.
  TITLE     N-acetylglucosaminyltransferase I promotes glioma cell
            proliferation and migration through increasing the stability of the
            glucose transporter GLUT1
  JOURNAL   FEBS Lett 594 (2), 358-366 (2020)
   PUBMED   31494931
  REMARK    GeneRIF: MGAT1 promotes complex N-glycosylation of glucose
            transporter 1 (Glut1) and increases Glut1 protein levels. In
            summary, our findings indicate that MGAT1 is highly expressed in
            glioblastoma and promotes glioma cells at least partly through
            upregulation of Glut1 protein.
REFERENCE   4  (residues 1 to 445)
  AUTHORS   Akiva I and Birgul Iyison N.
  TITLE     Identification of IFITM3 and MGAT1 as novel interaction partners of
            BRI3 by yeast two-hybrid screening
  JOURNAL   Turk J Biol 42 (6), 463-470 (2018)
   PUBMED   30983867
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 445)
  AUTHORS   Liss KHH, Lutkewitte AJ, Pietka T, Finck BN, Franczyk M, Yoshino J,
            Klein S and Hall AM.
  TITLE     Metabolic importance of adipose tissue monoacylglycerol
            acyltransferase 1 in mice and humans
  JOURNAL   J Lipid Res 59 (9), 1630-1639 (2018)
   PUBMED   29853530
  REMARK    GeneRIF: MGAT1 activity may play a role in regulating basal
            adipocyte FFA retention
REFERENCE   6  (residues 1 to 445)
  AUTHORS   Yip B, Chen SH, Mulder H, Hoppener JW and Schachter H.
  TITLE     Organization of the human beta-1,2-N-acetylglucosaminyltransferase
            I gene (MGAT1), which controls complex and hybrid N-glycan
            synthesis
  JOURNAL   Biochem J 321 (Pt 2) (Pt 2), 465-474 (1997)
   PUBMED   9020882
REFERENCE   7  (residues 1 to 445)
  AUTHORS   Tan J, D'Agostaro AF, Bendiak B, Reck F, Sarkar M, Squire JA, Leong
            P and Schachter H.
  TITLE     The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2-
            N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic
            DNA, localization to chromosome 14q21, expression in insect cells
            and purification of the recombinant protein
  JOURNAL   Eur J Biochem 231 (2), 317-328 (1995)
   PUBMED   7635144
REFERENCE   8  (residues 1 to 445)
  AUTHORS   Kumar R, Yang J, Eddy RL, Byers MG, Shows TB and Stanley P.
  TITLE     Cloning and expression of the murine gene and chromosomal location
            of the human gene encoding N-acetylglucosaminyltransferase I
  JOURNAL   Glycobiology 2 (4), 383-393 (1992)
   PUBMED   1421759
  REMARK    Erratum:[Glycobiology 1999 Aug;9(8):ix]
REFERENCE   9  (residues 1 to 445)
  AUTHORS   Hull E, Sarkar M, Spruijt MP, Hoppener JW, Dunn R and Schachter H.
  TITLE     Organization and localization to chromosome 5 of the human
            UDP-N-acetylglucosamine:alpha-3-D-mannoside
            beta-1,2-N-acetylglucosaminyltransferase I gene
  JOURNAL   Biochem Biophys Res Commun 176 (2), 608-615 (1991)
   PUBMED   1827260
REFERENCE   10 (residues 1 to 445)
  AUTHORS   Kumar R, Yang J, Larsen RD and Stanley P.
  TITLE     Cloning and expression of N-acetylglucosaminyltransferase I, the
            medial Golgi transferase that initiates complex N-linked
            carbohydrate formation
  JOURNAL   Proc Natl Acad Sci U S A 87 (24), 9948-9952 (1990)
   PUBMED   1702225
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022413.4 and DA467596.1.
            
            Summary: There are believed to be over 100 different
            glycosyltransferases involved in the synthesis of protein-bound and
            lipid-bound oligosaccharides.
            UDP-N-acetylglucosamine:alpha-3-D-mannoside
            beta-1,2-N-acetylglucosaminyltransferase I is a medial-Golgi enzyme
            essential for the synthesis of hybrid and complex N-glycans. The
            protein, encoded by a single exon, shows typical features of a type
            II transmembrane protein. The protein is believed to be essential
            for normal embryogenesis. Several variants encoding the same
            protein have been found for this gene. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (18) differs in the 5' UTR
            compared to variant 6. Variants 1-23 all encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA467596.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..445
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     Protein         1..445
                     /product="alpha-1,3-mannosyl-glycoprotein
                     2-beta-N-acetylglucosaminyltransferase"
                     /EC_number="2.4.1.101"
                     /note="glcNAc-T I; N-glycosyl-oligosaccharide-glycoprotein
                     N-acetylglucosaminyltransferase I; mannosyl
                     (alpha-1,3-)-glycoprotein
                     beta-1,2-N-acetylglucosaminyltransferase"
                     /calculated_mol_wt=50747
     Site            7..29
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P26572.2)"
     Region          12..444
                     /region_name="GNT-I"
                     /note="GNT-I family; pfam03071"
                     /db_xref="CDD:397273"
     Site            order(111..113,115,142..143,184..185,188..189,209..211,
                     267,288..289,318,320)
                     /site_type="active"
                     /note="substrate binding site [active]"
                     /db_xref="CDD:133007"
     CDS             1..445
                     /gene="MGAT1"
                     /gene_synonym="GLCNAC-TI; GLCT1; GLYT1; GNT-1; GNT-I;
                     GnTI; MGAT"
                     /coded_by="NM_001364390.2:685..2022"
                     /db_xref="CCDS:CCDS4458.1"
                     /db_xref="GeneID:4245"
                     /db_xref="HGNC:HGNC:7044"
                     /db_xref="MIM:160995"
ORIGIN      
        1 mlkkqsaglv lwgailfvaw nallllffwt rpapgrppsv saldgdpasl trevirlaqd
       61 aevelerqrg llqqigdals sqrgrvptaa ppaqprvpvt papavipilv iacdrstvrr
      121 cldkllhyrp saelfpiivs qdcgheetaq aiasygsavt hirqpdlssi avppdhrkfq
      181 gyykiarhyr walgqvfrqf rfpaavvved dlevapdffe yfratypllk adpslwcvsa
      241 wndngkeqmv dasrpellyr tdffpglgwl llaelwaele pkwpkafwdd wmrrpeqrqg
      301 racirpeisr tmtfgrkgvs hgqffdqhlk fiklnqqfvh ftqldlsylq reaydrdfla
      361 rvygapqlqv ekvrtndrke lgevrvqytg rdsfkafaka lgvmddlksg vpragyrgiv
      421 tfqfrgrrvh lappltwegy dpswn
//
LOCUS       NP_001358154            1578 aa            linear   PRI 27-DEC-2022
DEFINITION  FERM and PDZ domain-containing protein 1 [Homo sapiens].
ACCESSION   NP_001358154 XP_011516106
VERSION     NP_001358154.1
DBSOURCE    REFSEQ: accession NM_001371225.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1578)
  AUTHORS   Johnson EO, Hancock DB, Gaddis NC, Levy JL, Page G, Novak SP,
            Glasheen C, Saccone NL, Rice JP, Moreau MP, Doheny KF, Romm JM,
            Brooks AI, Aouizerat BE, Bierut LJ and Kral AH.
  TITLE     Novel genetic locus implicated for HIV-1 acquisition with putative
            regulatory links to HIV replication and infectivity: a genome-wide
            association study
  JOURNAL   PLoS One 10 (3), e0118149 (2015)
   PUBMED   25786224
  REMARK    GeneRIF: G allele at rs4878712 in FRMPD1 was associated with lower
            HIV-1 acquisition. G allele at this SNP was also associated with
            reduced FBXO10 and increased BCL2 expression levels, whereas higher
            BCL2 levels are known to reduce HIV replication and infectivity.
            Erratum:[PLoS One. 2015;10(5):e0129671. PMID: 26023777]
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1578)
  AUTHORS   Pan Z, Shang Y, Jia M, Zhang L, Xia C, Zhang M, Wang W and Wen W.
  TITLE     Structural and biochemical characterization of the interaction
            between LGN and Frmpd1
  JOURNAL   J Mol Biol 425 (6), 1039-1049 (2013)
   PUBMED   23318951
  REMARK    GeneRIF: LGN-TPR motifs are versatile and capable of recognizing
            multiple targets via diverse binding modes.
REFERENCE   3  (residues 1 to 1578)
  AUTHORS   Yuzawa S, Kamakura S, Iwakiri Y, Hayase J and Sumimoto H.
  TITLE     Structural basis for interaction between the conserved cell
            polarity proteins Inscuteable and Leu-Gly-Asn repeat-enriched
            protein (LGN)
  JOURNAL   Proc Natl Acad Sci U S A 108 (48), 19210-19215 (2011)
   PUBMED   22074847
REFERENCE   4  (residues 1 to 1578)
  AUTHORS   An N, Blumer JB, Bernard ML and Lanier SM.
  TITLE     The PDZ and band 4.1 containing protein Frmpd1 regulates the
            subcellular location of activator of G-protein signaling 3 and its
            interaction with G-proteins
  JOURNAL   J Biol Chem 283 (36), 24718-24728 (2008)
   PUBMED   18566450
  REMARK    GeneRIF: The PDZ and band 4.1 containing protein Frmpd1 regulates
            the subcellular location of activator of G-protein signaling 3 and
            its interaction with G-proteins.
REFERENCE   5  (residues 1 to 1578)
  AUTHORS   Samuelson DJ, Hesselson SE, Aperavich BA, Zan Y, Haag JD,
            Trentham-Dietz A, Hampton JM, Mau B, Chen KS, Baynes C, Khaw KT,
            Luben R, Perkins B, Shah M, Pharoah PD, Dunning AM, Easton DF,
            Ponder BA and Gould MN.
  TITLE     Rat Mcs5a is a compound quantitative trait locus with orthologous
            human loci that associate with breast cancer risk
  JOURNAL   Proc Natl Acad Sci U S A 104 (15), 6299-6304 (2007)
   PUBMED   17404222
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL513165.12 and AL591470.12.
            On Jul 2, 2019 this sequence version replaced XP_011516106.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968832,
                              SAMEA2163623 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1578
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.2"
     Protein         1..1578
                     /product="FERM and PDZ domain-containing protein 1"
                     /note="FERM domain-containing protein 2"
                     /calculated_mol_wt=173306
     Region          56..132
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(68..71,73,116..117,120..121)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          179..268
                     /region_name="FERM_F1_FRMPD1"
                     /note="FERM (Four.1 protein, Ezrin, Radixin, Moesin)
                     domain, F1 sub-domain, found in FERM and PDZ
                     domain-containing protein 1 (FRMPD1); cd17168"
                     /db_xref="CDD:340688"
     Region          182..401
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Site            213
                     /site_type="other"
                     /note="key conserved lysine K33"
                     /db_xref="CDD:340688"
     Region          397..501
                     /region_name="FERM_C_FRMPD1_FRMPD3_FRMPD4"
                     /note="FERM domain C-lobe of FERM and PDZ domain
                     containing proteins 1, 3, and 4 (FRMPD1, 3, 4); cd13183"
                     /db_xref="CDD:270004"
     Site            order(405,426,428,436)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270004"
     Site            order(440,446..449,482,486,489..490)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270004"
     Site            482..493
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270004"
     Region          555..>827
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          555..616
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SYB0.1)"
     Region          720..743
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SYB0.1)"
     Region          759..831
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SYB0.1)"
     Region          901..938
                     /region_name="LGNbd_FRMPD1"
                     /note="LGN tetratricopeptide repeat-binding domain found
                     in FERM and PDZ domain-containing protein 1; cd21942"
                     /db_xref="CDD:409273"
     Site            920..933
                     /site_type="other"
                     /note="TPR binding site [polypeptide binding]"
                     /db_xref="CDD:409273"
     Region          924..931
                     /region_name="Important for interaction with GPSM2.
                     /evidence=ECO:0000269|PubMed:23318951"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SYB0.1)"
     Region          950..1030
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SYB0.1)"
     Region          1070..1194
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SYB0.1)"
     Region          1347..1374
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SYB0.1)"
     CDS             1..1578
                     /gene="FRMPD1"
                     /gene_synonym="FRMD2"
                     /coded_by="NM_001371225.1:116..4852"
                     /db_xref="CCDS:CCDS6612.1"
                     /db_xref="GeneID:22844"
                     /db_xref="HGNC:HGNC:29159"
                     /db_xref="MIM:616919"
ORIGIN      
        1 meeletslfq trkahrieqm varwlrrsrd ssarakvaaa dgparnptqt lipvrhtvki
       61 dkdtllqdyg fhiseslplt vvavtaggsa hgklfpgdqi lqmnnepaed lsweravdil
      121 reaedslsit vvrctsgvpk ssflteekra rlktnpvkvh faeevlisgh sqgnsllcmp
      181 nvlklyleng qtkafkfean ttvkdiiltv keklsirsie yfalaleeqy sisrlhllhe
      241 eeliqqvver eeshdyrclf rvcfvpkdpl dllkedpvaf eylylqscsd vlqerfavem
      301 kcssalrlaa lhiqeriyac aqpqkislky iekdwgienf isptllrnmk gkdikkaisf
      361 hmkrnqnlle prqkqlisaa qlrlnylqil gelktyggri fnatlmlqdr esyiallvga
      421 kygisqvins klnimstlae fanisrvelt eesekvsvvk vylqdvkvlt lllesnsakd
      481 lacliagyyr llvdpvtsif lwpgnkqqah rvsaeegyes racsdseess evdcvlepls
      541 drrlvklapc rslikeeqpp gnsptpevar rgpstcgass ttdsaeseas dsantesrgy
      601 rtsgssesmd aleeddldtc sssrstffhf gspglaesid sdsqeersgi etsgflclld
      661 laqranpqcq ktefsesaal etfgwapels tvrldprlye gshadyyslc ssvspasyls
      721 dssestasrq ggappawgqq gwteaqpssm leplalhppl afedgssdee yydaadkltp
      781 pgppsgprdv staepsatsl qnkastsspe nslpcgpdgr qpsrrggvkk yaktlrkrrs
      841 flqtdytsqv sfplvpsasl esvddvcyyd repylalgap sptvsslqdm qgepglletk
      901 algllaplre tkstnpasrv memepetmet ksvidsrvss isairfridp nnkensgvvp
      961 aasssastph csnpgssgpd taqarpsqil plsqdldgia pkeptiehgd ssfslssgdp
     1021 npdraclasn pglnnvsqgd tlelqlephv qlemglesfc tnhiqetapk ytepllsprd
     1081 eprsdecgin pgekiasipt keepqgqlsl erdrevtnkn gtnvfqeesr kdsgdspgdv
     1141 snnvsqtldi sspagkivts lsldapvtgt eqipphpprd pqgqsreppg qgcqaqeqkl
     1201 fveldldpdf flgkqtvspa vppegikaea pnhvtgqdia prdspewvcf npepslpepl
     1261 pcpqedphle tsnhcllseg ksdsssicls aeksflcfap eshpevsasl rvatslgfag
     1321 mnemvaprig mdqcscqfsy atcfrgpqpe teeedrdlea hpmapltspp sagspvvlpw
     1381 rparahsctt aplsrkshiw peycsralrq lkatpastpe gfiqlmesll elqdiletsw
     1441 gvgnkhppek ctwhftesrs rlcmgsqkll sscrhvirmd qspeemqgav rdtfqhlvql
     1501 aglcfqftdc srcsarhrea agnlrdvvyt yhqfieaaks tcergyhdls vkllarqcta
     1561 ltaavfcltq kfrastal
//
LOCUS       NP_001352857             843 aa            linear   PRI 27-DEC-2022
DEFINITION  neuroligin-1 isoform 2 [Homo sapiens].
ACCESSION   NP_001352857 XP_016861380
VERSION     NP_001352857.1
DBSOURCE    REFSEQ: accession NM_001365928.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 843)
  AUTHORS   Pergolizzi M, Bizzozero L, Maione F, Maldi E, Isella C, Macagno M,
            Mariella E, Bardelli A, Medico E, Marchio C, Serini G, Di
            Nicolantonio F, Bussolino F and Arese M.
  TITLE     The neuronal protein Neuroligin 1 promotes colorectal cancer
            progression by modulating the APC/beta-catenin pathway
  JOURNAL   J Exp Clin Cancer Res 41 (1), 266 (2022)
   PUBMED   36056393
  REMARK    GeneRIF: The neuronal protein Neuroligin 1 promotes colorectal
            cancer progression by modulating the APC/beta-catenin pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 843)
  AUTHORS   Choi GE, Chae CW, Park MR, Yoon JH, Jung YH, Lee HJ and Han HJ.
  TITLE     Prenatal glucocorticoid exposure selectively impairs neuroligin
            1-dependent neurogenesis by suppressing astrocytic FGF2-neuronal
            FGFR1 axis
  JOURNAL   Cell Mol Life Sci 79 (6), 294 (2022)
   PUBMED   35562616
  REMARK    GeneRIF: Prenatal glucocorticoid exposure selectively impairs
            neuroligin 1-dependent neurogenesis by suppressing astrocytic
            FGF2-neuronal FGFR1 axis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 843)
  AUTHORS   Yu Q, Wang X, Yang Y, Chi P, Huang J, Qiu S, Zheng X and Chen X.
  TITLE     Upregulated NLGN1 predicts poor survival in colorectal cancer
  JOURNAL   BMC Cancer 21 (1), 884 (2021)
   PUBMED   34340665
  REMARK    GeneRIF: Upregulated NLGN1 predicts poor survival in colorectal
            cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 843)
  AUTHORS   Camporesi E, Lashley T, Gobom J, Lantero-Rodriguez J, Hansson O,
            Zetterberg H, Blennow K and Becker B.
  TITLE     Neuroligin-1 in brain and CSF of neurodegenerative disorders:
            investigation for synaptic biomarkers
  JOURNAL   Acta Neuropathol Commun 9 (1), 19 (2021)
   PUBMED   33522967
  REMARK    GeneRIF: Neuroligin-1 in brain and CSF of neurodegenerative
            disorders: investigation for synaptic biomarkers.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 843)
  AUTHORS   Paskus JD, Tian C, Fingleton E, Shen C, Chen X, Li Y, Myers SA,
            Badger JD 2nd, Bemben MA, Herring BE and Roche KW.
  TITLE     Synaptic Kalirin-7 and Trio Interactomes Reveal a GEF
            Protein-Dependent Neuroligin-1 Mechanism of Action
  JOURNAL   Cell Rep 29 (10), 2944-2952 (2019)
   PUBMED   31801062
  REMARK    GeneRIF: Synaptic Kalirin-7 and Trio Interactomes Reveal a GEF
            Protein-Dependent Neuroligin-1 Mechanism of Action.
REFERENCE   6  (residues 1 to 843)
  AUTHORS   Cantallops I and Cline HT.
  TITLE     Synapse formation: if it looks like a duck and quacks like a duck
            ...
  JOURNAL   Curr Biol 10 (17), R620-R623 (2000)
   PUBMED   10996085
  REMARK    Review article
REFERENCE   7  (residues 1 to 843)
  AUTHORS   Scheiffele P, Fan J, Choih J, Fetter R and Serafini T.
  TITLE     Neuroligin expressed in nonneuronal cells triggers presynaptic
            development in contacting axons
  JOURNAL   Cell 101 (6), 657-669 (2000)
   PUBMED   10892652
REFERENCE   8  (residues 1 to 843)
  AUTHORS   Irie M, Hata Y, Takeuchi M, Ichtchenko K, Toyoda A, Hirao K, Takai
            Y, Rosahl TW and Sudhof TC.
  TITLE     Binding of neuroligins to PSD-95
  JOURNAL   Science 277 (5331), 1511-1515 (1997)
   PUBMED   9278515
REFERENCE   9  (residues 1 to 843)
  AUTHORS   Ichtchenko K, Nguyen T and Sudhof TC.
  TITLE     Structures, alternative splicing, and neurexin binding of multiple
            neuroligins
  JOURNAL   J Biol Chem 271 (5), 2676-2682 (1996)
   PUBMED   8576240
REFERENCE   10 (residues 1 to 843)
  AUTHORS   Ichtchenko K, Hata Y, Nguyen T, Ullrich B, Missler M, Moomaw C and
            Sudhof TC.
  TITLE     Neuroligin 1: a splice site-specific ligand for beta-neurexins
  JOURNAL   Cell 81 (3), 435-443 (1995)
   PUBMED   7736595
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092967.5, AC092923.8 and
            AC008120.17.
            On Sep 20, 2018 this sequence version replaced XP_016861380.1.
            
            Summary: This gene encodes a member of a family of neuronal cell
            surface proteins. Members of this family may act as splice
            site-specific ligands for beta-neurexins and may be involved in the
            formation and remodeling of central nervous system synapses.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.59184.1,
                                           SRR14038191.3933992.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..843
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.31"
     Protein         1..843
                     /product="neuroligin-1 isoform 2"
                     /calculated_mol_wt=94137
     Region          52..626
                     /region_name="COesterase"
                     /note="Carboxylesterase family; pfam00135"
                     /db_xref="CDD:395084"
     Site            order(201..203,280..282,285,433,437..438,480,526,529)
                     /site_type="other"
                     /note="substrate binding pocket [chemical binding]"
                     /db_xref="CDD:238191"
     Site            order(281,411,525)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:238191"
     CDS             1..843
                     /gene="NLGN1"
                     /gene_synonym="NL1"
                     /coded_by="NM_001365928.2:922..3453"
                     /note="isoform 2 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS93427.1"
                     /db_xref="GeneID:22871"
                     /db_xref="HGNC:HGNC:14291"
                     /db_xref="MIM:600568"
ORIGIN      
        1 malprctwpn yvwravmacl vhrglgaplt lcmlgcllqa ghvlsqkldd vdplvatnfg
       61 kirgikkeln neilgpviqf lgvpyaappt gerrfqppep pspwsdirna tqfapvcpqn
      121 iidgrlpevm lpvwftnnld vvssyvqdqs edclylniyv ptedvkrisk ecarkpgkki
      181 crkgdirdsg gpkpvmvyih ggsymegtgn lydgsvlasy gnvivitvny rlgvlgflst
      241 gdqaakgnyg lldliqalrw tsenigffgg dplritvfgs gaggscvnll tlshysegnr
      301 wsnstkglfq raiaqsgtal sswavsfqpa kyarmlatkv gcnvsdtvel veclqkkpyk
      361 elvdqdiqpa ryhiafgpvi dgdvipddpq ilmeqgefln ydimlgvnqg eglkfveniv
      421 dsddgisasd fdfavsnfvd nlygypegkd vlretikfmy tdwadrhnpe trrktllalf
      481 tdhqwvapav atadlhsnfg sptyfyafyh hcqtdqvpaw adaahgdevp yvlgipmigp
      541 telfpcnfsk ndvmlsavvm tywtnfaktg dpnqpvpqdt kfihtkpnrf eevawtrysq
      601 kdqlylhigl kprvkehyra nkvnlwlelv phlhnlndis qytstttkvp stditfrptr
      661 knsvpvtsaf ptakqddpkq qpspfsvdqr dystelsvti avgasllfln ilafaalyyk
      721 kdkrrhdvhr rcspqrtttn dlthaqeeei mslqmkhtdl dhecesihph evvlrtacpp
      781 dytlamrrsp ddvplmtpnt itmipntipg iqplhtfntf tggqnntlph phphphshst
      841 trv
//
LOCUS       NP_001362378             431 aa            linear   PRI 27-DEC-2022
DEFINITION  forkhead box protein N2 isoform a [Homo sapiens].
ACCESSION   NP_001362378 XP_016859447
VERSION     NP_001362378.1
DBSOURCE    REFSEQ: accession NM_001375449.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 431)
  AUTHORS   Jeong S, Kim SA and Ahn SG.
  TITLE     HOXC6-Mediated miR-188-5p Expression Induces Cell Migration through
            the Inhibition of the Tumor Suppressor FOXN2
  JOURNAL   Int J Mol Sci 23 (1), 9 (2021)
   PUBMED   35008435
  REMARK    GeneRIF: HOXC6-Mediated miR-188-5p Expression Induces Cell
            Migration through the Inhibition of the Tumor Suppressor FOXN2.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 431)
  AUTHORS   Liu XH, Liu LP, Xu XM, Hua M, Kang Q, Li A and Huang L.
  TITLE     FOXN2 suppresses the proliferation and invasion of human
            hepatocellular carcinoma cells
  JOURNAL   Eur Rev Med Pharmacol Sci 25 (2), 731-737 (2021)
   PUBMED   33577027
  REMARK    GeneRIF: FOXN2 suppresses the proliferation and invasion of human
            hepatocellular carcinoma cells.
REFERENCE   3  (residues 1 to 431)
  AUTHORS   Dai SG, Guo LL, Xia X and Pan Y.
  TITLE     Long non-coding RNA WT1-AS inhibits cell aggressiveness via
            miR-203a-5p/FOXN2 axis and is associated with prognosis in cervical
            cancer
  JOURNAL   Eur Rev Med Pharmacol Sci 23 (2), 486-495 (2019)
   PUBMED   30720155
  REMARK    GeneRIF: The WT1-AS was under-expressed in cervical carcinoma and
            suppresses cervical cancer cell growth and aggressiveness via a
            miR-203a-5p/FOXN2 axis.
REFERENCE   4  (residues 1 to 431)
  AUTHORS   Ma J, Lu Y, Zhang S, Li Y, Huang J, Yin Z, Ren J, Huang K, Liu L,
            Yang K, Wu G and Xu S.
  TITLE     beta-Trcp ubiquitin ligase and RSK2 kinase-mediated degradation of
            FOXN2 promotes tumorigenesis and radioresistance in lung cancer
  JOURNAL   Cell Death Differ 25 (8), 1473-1485 (2018)
   PUBMED   29396548
  REMARK    GeneRIF: The Ser365 and Ser369 sites in a conserved DSGYAS motif
            are critical for the degradation of FOXN2 by beta-Trcp and RSK2.
            Moreover, gain-of-function and loss-of-function studies show that
            FOXN2 impairs cell proliferation in vitro and in vivo and enhances
            the radiosensitivity of lung cancer.
REFERENCE   5  (residues 1 to 431)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (residues 1 to 431)
  AUTHORS   Cheng CK, Chan NP, Wan TS, Lam LY, Cheung CH, Wong TH, Ip RK, Wong
            RS and Ng MH.
  TITLE     Helicase-like transcription factor is a RUNX1 target whose
            downregulation promotes genomic instability and correlates with
            complex cytogenetic features in acute myeloid leukemia
  JOURNAL   Haematologica 101 (4), 448-457 (2016)
   PUBMED   26802049
  REMARK    GeneRIF: HTLF is a RUNX1 target whose down-regulation promotes
            genomic instability and correlates with complex cytogenetic
            abnormalities in acute myeloid leukemia patients.
REFERENCE   7  (residues 1 to 431)
  AUTHORS   Li X, Wang W, Wang J, Malovannaya A, Xi Y, Li W, Guerra R, Hawke
            DH, Qin J and Chen J.
  TITLE     Proteomic analyses reveal distinct chromatin-associated and soluble
            transcription factor complexes
  JOURNAL   Mol Syst Biol 11 (1), 775 (2015)
   PUBMED   25609649
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 431)
  AUTHORS   Guo W, Dong Z, Guo Y, Chen Z, Kuang G and Yang Z.
  TITLE     Aberrant methylation of the CpG island of HLTF gene in gastric
            cardia adenocarcinoma and dysplasia
  JOURNAL   Clin Biochem 44 (10-11), 784-788 (2011)
   PUBMED   21531217
  REMARK    GeneRIF: HLTF methylation may exist in gastric cardia dysplasia
            stages and may play important role in the development of gastric
            cardia adenocarcinoma.
REFERENCE   9  (residues 1 to 431)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   10 (residues 1 to 431)
  AUTHORS   Li C, Lusis AJ, Sparkes R, Tran SM and Gaynor R.
  TITLE     Characterization and chromosomal mapping of the gene encoding the
            cellular DNA binding protein HTLF
  JOURNAL   Genomics 13 (3), 658-664 (1992)
   PUBMED   1639393
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091485.8.
            On Oct 28, 2019 this sequence version replaced XP_016859447.1.
            
            Summary: This gene encodes a forkhead domain binding protein and
            may function in the transcriptional regulation of the human T-cell
            leukemia virus long terminal repeat. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.783647.1,
                                           SRR14038196.3516776.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2147975
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..431
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.3"
     Protein         1..431
                     /product="forkhead box protein N2 isoform a"
                     /note="human T-cell leukemia virus enhancer factor;
                     forkhead box protein N2"
                     /calculated_mol_wt=47030
     Region          111..192
                     /region_name="FH_FOXN2"
                     /note="Forkhead (FH) domain found in Forkhead box protein
                     N2 (FOXN2); cd20058"
                     /db_xref="CDD:410832"
     Site            order(117,135..136,139,158..159,161..162,165,172,183..185,
                     187)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410832"
     Region          364..387
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P32314.3)"
     CDS             1..431
                     /gene="FOXN2"
                     /gene_synonym="HTLF"
                     /coded_by="NM_001375449.1:750..2045"
                     /note="isoform a is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS1838.1"
                     /db_xref="GeneID:3344"
                     /db_xref="HGNC:HGNC:5281"
                     /db_xref="MIM:143089"
ORIGIN      
        1 mgpvigmtpd kraetpgaek iaglsqiykm gslpeavdaa rpkatlvdse saddeltnln
       61 wlhestnllt nfslgseglp ivsplydieg ddvpsfgpac yqnpekksat skppysfsll
      121 iymaiehspn kclpvkeiys wildhfpyfa taptgwknsv rhnlslnkcf qkvershgkv
      181 ngkgslwcvd peykpnliqa lkkqpfssas sqngslsphy lssvikqnqv rnlkesdida
      241 aaammllnts ieqgilecek plplktalqk krsygnafhh psavrlqesd slatsidpke
      301 dhnysassma aqrcasrssv sslssvdevy efipknshvg sdgsegfhse edtdvdyedd
      361 plgdsgyasq pcakisekgq sgkkmrkqtc qeideelkea agsllhlagi rtclgslist
      421 aktqnqkqrk k
//
LOCUS       NP_003501                130 aa            linear   PRI 28-DEC-2022
DEFINITION  histone H2A type 1 [Homo sapiens].
ACCESSION   NP_003501
VERSION     NP_003501.1
DBSOURCE    REFSEQ: accession NM_003510.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 130)
  AUTHORS   Srivastava A, Ritesh KC, Tsan YC, Liao R, Su F, Cao X, Hannibal MC,
            Keegan CE, Chinnaiyan AM, Martin DM and Bielas SL.
  TITLE     De novo dominant ASXL3 mutations alter H2A deubiquitination and
            transcription in Bainbridge-Ropers syndrome
  JOURNAL   Hum Mol Genet 25 (3), 597-608 (2016)
   PUBMED   26647312
  REMARK    GeneRIF: De novo dominant ASXL3 mutations alter H2A
            deubiquitination and transcription in Bainbridge-Ropers syndrome.
REFERENCE   2  (residues 1 to 130)
  AUTHORS   Lubula MY, Eckenroth BE, Carlson S, Poplawski A, Chruszcz M and
            Glass KC.
  TITLE     Structural insights into recognition of acetylated histone ligands
            by the BRPF1 bromodomain
  JOURNAL   FEBS Lett 588 (21), 3844-3854 (2014)
   PUBMED   25281266
REFERENCE   3  (residues 1 to 130)
  AUTHORS   Kim W, Chakraborty G, Kim S, Shin J, Park CH, Jeong MW, Bharatham
            N, Yoon HS and Kim KT.
  TITLE     Macro histone H2A1.2 (macroH2A1) protein suppresses mitotic kinase
            VRK1 during interphase
  JOURNAL   J Biol Chem 287 (8), 5278-5289 (2012)
   PUBMED   22194607
REFERENCE   4  (residues 1 to 130)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   5  (residues 1 to 130)
  AUTHORS   Richly H, Rocha-Viegas L, Ribeiro JD, Demajo S, Gundem G,
            Lopez-Bigas N, Nakagawa T, Rospert S, Ito T and Di Croce L.
  TITLE     Transcriptional activation of polycomb-repressed genes by ZRF1
  JOURNAL   Nature 468 (7327), 1124-1128 (2010)
   PUBMED   21179169
REFERENCE   6  (residues 1 to 130)
  AUTHORS   Marzluff WF, Gongidi P, Woods KR, Jin J and Maltais LJ.
  TITLE     The human and mouse replication-dependent histone genes
  JOURNAL   Genomics 80 (5), 487-498 (2002)
   PUBMED   12408966
REFERENCE   7  (residues 1 to 130)
  AUTHORS   Deng L, de la Fuente C, Fu P, Wang L, Donnelly R, Wade JD, Lambert
            P, Li H, Lee CG and Kashanchi F.
  TITLE     Acetylation of HIV-1 Tat by CBP/P300 increases transcription of
            integrated HIV-1 genome and enhances binding to core histones
  JOURNAL   Virology 277 (2), 278-295 (2000)
   PUBMED   11080476
REFERENCE   8  (residues 1 to 130)
  AUTHORS   Albig W, Trappe R, Kardalinou E, Eick S and Doenecke D.
  TITLE     The human H2A and H2B histone gene complement
  JOURNAL   Biol Chem 380 (1), 7-18 (1999)
   PUBMED   10064132
REFERENCE   9  (residues 1 to 130)
  AUTHORS   El Kharroubi A, Piras G, Zensen R and Martin MA.
  TITLE     Transcriptional activation of the integrated chromatin-associated
            human immunodeficiency virus type 1 promoter
  JOURNAL   Mol Cell Biol 18 (5), 2535-2544 (1998)
   PUBMED   9566873
REFERENCE   10 (residues 1 to 130)
  AUTHORS   Albig W and Doenecke D.
  TITLE     The human histone gene cluster at the D6S105 locus
  JOURNAL   Hum Genet 101 (3), 284-294 (1997)
   PUBMED   9439656
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z98744.2.
            
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. Two molecules of each of the four core histones (H2A,
            H2B, H3, and H4) form an octamer, around which approximately 146 bp
            of DNA is wrapped in repeating units, called nucleosomes. The
            linker histone, H1, interacts with linker DNA between nucleosomes
            and functions in the compaction of chromatin into higher order
            structures. This gene is intronless and encodes a
            replication-dependent histone that is a member of the histone H2A
            family. Transcripts from this gene lack polyA tails but instead
            contain a palindromic termination element. This gene is found in
            the small histone gene cluster on chromosome 6p22-p21.3. [provided
            by RefSeq, Aug 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC034487.2, DA827858.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match            :: ENST00000618958.2/
                                             ENSP00000482431.2
            RefSeq Select criteria        :: based on single protein-coding
                                             transcript
            replication-dependent histone :: PMID: 12408966
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..130
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     Protein         1..130
                     /product="histone H2A type 1"
                     /note="H2A histone family, member D; histone cluster 1 H2A
                     family member k; histone 1, H2ak; histone H2A type 1-J;
                     histone cluster 1, H2ak; histone H2A/ptl"
                     /calculated_mol_wt=13960
     Region          1..130
                     /region_name="PTZ00017"
                     /note="histone H2A; Provisional"
                     /db_xref="CDD:185399"
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C0S8.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:11709551,
                     ECO:0000269|PubMed:15823041, ECO:0000269|PubMed:16457589;
                     propagated from UniProtKB/Swiss-Prot (P0C0S8.2)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by RPS6KA5.
                     /evidence=ECO:0000269|PubMed:11709551,
                     ECO:0000269|PubMed:15010469; propagated from
                     UniProtKB/Swiss-Prot (P0C0S8.2)"
     Site            4
                     /site_type="methylation"
                     /note="Symmetric dimethylarginine, by PRMT5, alternate.
                     /evidence=ECO:0000250|UniProtKB:P22752; propagated from
                     UniProtKB/Swiss-Prot (P0C0S8.2)"
     Site            105
                     /site_type="methylation"
                     /note="N5-methylglutamine.
                     /evidence=ECO:0000269|PubMed:24352239; propagated from
                     UniProtKB/Swiss-Prot (P0C0S8.2)"
     Site            121
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by DCAF1.
                     /evidence=ECO:0000269|PubMed:15078818,
                     ECO:0000269|PubMed:24140421; propagated from
                     UniProtKB/Swiss-Prot (P0C0S8.2)"
     CDS             1..130
                     /gene="H2AC15"
                     /gene_synonym="H2A.1; H2A/d; H2AC11; H2AC13; H2AC14;
                     H2AC16; H2AC17; H2AFD; HIST1H2AK"
                     /coded_by="NM_003510.3:37..429"
                     /db_xref="CCDS:CCDS4632.1"
                     /db_xref="GeneID:8330"
                     /db_xref="HGNC:HGNC:4726"
                     /db_xref="MIM:602788"
ORIGIN      
        1 msgrgkqggk arakaktrss raglqfpvgr vhrllrkgny aervgagapv ylaavleylt
       61 aeilelagna ardnkktrii prhlqlairn deelnkllgk vtiaqggvlp niqavllpkk
      121 teshhkakgk
//
LOCUS       NP_001364179             380 aa            linear   PRI 28-DEC-2022
DEFINITION  pleckstrin homology domain-containing family A member 1 isoform 8
            [Homo sapiens].
ACCESSION   NP_001364179
VERSION     NP_001364179.1
DBSOURCE    REFSEQ: accession NM_001377250.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 380)
  AUTHORS   Huang Q and Xiang Y.
  TITLE     Polymorphisms in Selected Genes and Their Association with
            Age-Related Macular Degeneration in a Chinese Population
  JOURNAL   Med Sci Monit 24, 1693-1700 (2018)
   PUBMED   29565837
  REMARK    GeneRIF: investigated the association of PLEKHA1 958A/G,
            polymorphisms with Age-Related Macular Degeneration (AMD) risk.
            PLEKHA1 958A/G polymorphism was associated with a decreased AMD
            risk (additive model: aOR=0.722, 95% CI=0.450-0.979, P=0.019;
            allele model: aOR=0.883, 95% CI=0.736-0.992, P=0.014)
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 380)
  AUTHORS   Kortvely E and Ueffing M.
  TITLE     Gene Structure of the 10q26 Locus: A Clue to Cracking the
            ARMS2/HTRA1 Riddle?
  JOURNAL   Adv Exp Med Biol 854, 23-29 (2016)
   PUBMED   26427389
  REMARK    GeneRIF: Studies indicate that the high-risk allele of the 10q26
            locus encompasses three genes, PLEKHA1, ARMS2, and HTRA1 with high
            linkage disequilibrium.
REFERENCE   3  (residues 1 to 380)
  AUTHORS   Gupta D, Gupta V, Singh V, Chawla S, Parveen F, Agrawal S and
            Phadke SR.
  TITLE     Study of Polymorphisms in CX3CR1, PLEKHA1 and VEGF genes as risk
            factors for age-related macular degeneration in Indian patients
  JOURNAL   Arch Med Res 45 (6), 489-494 (2014)
   PUBMED   25050486
  REMARK    GeneRIF: CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms
            were not found to be associated with age-related macular
            degeneration in an Indian population.
REFERENCE   4  (residues 1 to 380)
  AUTHORS   Mahajan A, Go MJ, Zhang W, Below JE, Gaulton KJ, Ferreira T,
            Horikoshi M, Johnson AD, Ng MC, Prokopenko I, Saleheen D, Wang X,
            Zeggini E, Abecasis GR, Adair LS, Almgren P, Atalay M, Aung T,
            Baldassarre D, Balkau B, Bao Y, Barnett AH, Barroso I, Basit A,
            Been LF, Beilby J, Bell GI, Benediktsson R, Bergman RN, Boehm BO,
            Boerwinkle E, Bonnycastle LL, Burtt N, Cai Q, Campbell H, Carey J,
            Cauchi S, Caulfield M, Chan JC, Chang LC, Chang TJ, Chang YC,
            Charpentier G, Chen CH, Chen H, Chen YT, Chia KS, Chidambaram M,
            Chines PS, Cho NH, Cho YM, Chuang LM, Collins FS, Cornelis MC,
            Couper DJ, Crenshaw AT, van Dam RM, Danesh J, Das D, de Faire U,
            Dedoussis G, Deloukas P, Dimas AS, Dina C, Doney AS, Donnelly PJ,
            Dorkhan M, van Duijn C, Dupuis J, Edkins S, Elliott P, Emilsson V,
            Erbel R, Eriksson JG, Escobedo J, Esko T, Eury E, Florez JC,
            Fontanillas P, Forouhi NG, Forsen T, Fox C, Fraser RM, Frayling TM,
            Froguel P, Frossard P, Gao Y, Gertow K, Gieger C, Gigante B,
            Grallert H, Grant GB, Grrop LC, Groves CJ, Grundberg E, Guiducci C,
            Hamsten A, Han BG, Hara K, Hassanali N, Hattersley AT, Hayward C,
            Hedman AK, Herder C, Hofman A, Holmen OL, Hovingh K, Hreidarsson
            AB, Hu C, Hu FB, Hui J, Humphries SE, Hunt SE, Hunter DJ, Hveem K,
            Hydrie ZI, Ikegami H, Illig T, Ingelsson E, Islam M, Isomaa B,
            Jackson AU, Jafar T, James A, Jia W, Jockel KH, Jonsson A, Jowett
            JB, Kadowaki T, Kang HM, Kanoni S, Kao WH, Kathiresan S, Kato N,
            Katulanda P, Keinanen-Kiukaanniemi KM, Kelly AM, Khan H, Khaw KT,
            Khor CC, Kim HL, Kim S, Kim YJ, Kinnunen L, Klopp N, Kong A,
            Korpi-Hyovalti E, Kowlessur S, Kraft P, Kravic J, Kristensen MM,
            Krithika S, Kumar A, Kumate J, Kuusisto J, Kwak SH, Laakso M, Lagou
            V, Lakka TA, Langenberg C, Langford C, Lawrence R, Leander K, Lee
            JM, Lee NR, Li M, Li X, Li Y, Liang J, Liju S, Lim WY, Lind L,
            Lindgren CM, Lindholm E, Liu CT, Liu JJ, Lobbens S, Long J, Loos
            RJ, Lu W, Luan J, Lyssenko V, Ma RC, Maeda S, Magi R, Mannisto S,
            Matthews DR, Meigs JB, Melander O, Metspalu A, Meyer J, Mirza G,
            Mihailov E, Moebus S, Mohan V, Mohlke KL, Morris AD, Muhleisen TW,
            Muller-Nurasyid M, Musk B, Nakamura J, Nakashima E, Navarro P, Ng
            PK, Nica AC, Nilsson PM, Njolstad I, Nothen MM, Ohnaka K, Ong TH,
            Owen KR, Palmer CN, Pankow JS, Park KS, Parkin M, Pechlivanis S,
            Pedersen NL, Peltonen L, Perry JR, Peters A, Pinidiyapathirage JM,
            Platou CG, Potter S, Price JF, Qi L, Radha V, Rallidis L, Rasheed
            A, Rathman W, Rauramaa R, Raychaudhuri S, Rayner NW, Rees SD,
            Rehnberg E, Ripatti S, Robertson N, Roden M, Rossin EJ, Rudan I,
            Rybin D, Saaristo TE, Salomaa V, Saltevo J, Samuel M, Sanghera DK,
            Saramies J, Scott J, Scott LJ, Scott RA, Segre AV, Sehmi J,
            Sennblad B, Shah N, Shah S, Shera AS, Shu XO, Shuldiner AR,
            Sigurdsson G, Sijbrands E, Silveira A, Sim X, Sivapalaratnam S,
            Small KS, So WY, Stancakova A, Stefansson K, Steinbach G,
            Steinthorsdottir V, Stirrups K, Strawbridge RJ, Stringham HM, Sun
            Q, Suo C, Syvanen AC, Takayanagi R, Takeuchi F, Tay WT, Teslovich
            TM, Thorand B, Thorleifsson G, Thorsteinsdottir U, Tikkanen E,
            Trakalo J, Tremoli E, Trip MD, Tsai FJ, Tuomi T, Tuomilehto J,
            Uitterlinden AG, Valladares-Salgado A, Vedantam S, Veglia F, Voight
            BF, Wang C, Wareham NJ, Wennauer R, Wickremasinghe AR, Wilsgaard T,
            Wilson JF, Wiltshire S, Winckler W, Wong TY, Wood AR, Wu JY, Wu Y,
            Yamamoto K, Yamauchi T, Yang M, Yengo L, Yokota M, Young R, Zabaneh
            D, Zhang F, Zhang R, Zheng W, Zimmet PZ, Altshuler D, Bowden DW,
            Cho YS, Cox NJ, Cruz M, Hanis CL, Kooner J, Lee JY, Seielstad M,
            Teo YY, Boehnke M, Parra EJ, Chambers JC, Tai ES, McCarthy MI and
            Morris AP.
  CONSRTM   DIAbetes Genetics Replication And Meta-analysis (DIAGRAM)
            Consortium; Asian Genetic Epidemiology Network Type 2 Diabetes
            (AGEN-T2D) Consortium; South Asian Type 2 Diabetes (SAT2D)
            Consortium; Mexican American Type 2 Diabetes (MAT2D) Consortium;
            Type 2 Diabetes Genetic Exploration by Nex-generation sequencing in
            muylti-Ethnic Samples (T2D-GENES) Consortium
  TITLE     Genome-wide trans-ancestry meta-analysis provides insight into the
            genetic architecture of type 2 diabetes susceptibility
  JOURNAL   Nat Genet 46 (3), 234-244 (2014)
   PUBMED   24509480
REFERENCE   5  (residues 1 to 380)
  AUTHORS   Hogan A, Yakubchyk Y, Chabot J, Obagi C, Daher E, Maekawa K and Gee
            SH.
  TITLE     The phosphoinositol 3,4-bisphosphate-binding protein TAPP1
            interacts with syntrophins and regulates actin cytoskeletal
            organization
  JOURNAL   J Biol Chem 279 (51), 53717-53724 (2004)
   PUBMED   15485858
  REMARK    GeneRIF: syntrophins regulate the localization of TAPP1, which may
            be important for remodeling the actin cytoskeleton in response to
            growth factor stimulation
REFERENCE   6  (residues 1 to 380)
  AUTHORS   Kimber WA, Deak M, Prescott AR and Alessi DR.
  TITLE     Interaction of the protein tyrosine phosphatase PTPL1 with the
            PtdIns(3,4)P2-binding adaptor protein TAPP1
  JOURNAL   Biochem J 376 (Pt 2), 525-535 (2003)
   PUBMED   14516276
  REMARK    GeneRIF: TAPP1 binds to protein tyrosine phosphatase PTPL1.
REFERENCE   7  (residues 1 to 380)
  AUTHORS   Marshall AJ, Krahn AK, Ma K, Duronio V and Hou S.
  TITLE     TAPP1 and TAPP2 are targets of phosphatidylinositol 3-kinase
            signaling in B cells: sustained plasma membrane recruitment
            triggered by the B-cell antigen receptor
  JOURNAL   Mol Cell Biol 22 (15), 5479-5491 (2002)
   PUBMED   12101241
REFERENCE   8  (residues 1 to 380)
  AUTHORS   Kimber WA, Trinkle-Mulcahy L, Cheung PC, Deak M, Marsden LJ,
            Kieloch A, Watt S, Javier RT, Gray A, Downes CP, Lucocq JM and
            Alessi DR.
  TITLE     Evidence that the tandem-pleckstrin-homology-domain-containing
            protein TAPP1 interacts with Ptd(3,4)P2 and the
            multi-PDZ-domain-containing protein MUPP1 in vivo
  JOURNAL   Biochem J 361 (Pt 3), 525-536 (2002)
   PUBMED   11802782
REFERENCE   9  (residues 1 to 380)
  AUTHORS   Thomas CC, Dowler S, Deak M, Alessi DR and van Aalten DM.
  TITLE     Crystal structure of the phosphatidylinositol
            3,4-bisphosphate-binding pleckstrin homology (PH) domain of tandem
            PH-domain-containing protein 1 (TAPP1): molecular basis of lipid
            specificity
  JOURNAL   Biochem J 358 (Pt 2), 287-294 (2001)
   PUBMED   11513726
REFERENCE   10 (residues 1 to 380)
  AUTHORS   Dowler S, Currie RA, Campbell DG, Deak M, Kular G, Downes CP and
            Alessi DR.
  TITLE     Identification of pleckstrin-homology-domain-containing proteins
            with novel phosphoinositide-binding specificities
  JOURNAL   Biochem J 351 (Pt 1), 19-31 (2000)
   PUBMED   11001876
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX664700.3 and BX842242.1.
            
            Summary: This gene encodes a pleckstrin homology domain-containing
            adapter protein. The encoded protein is localized to the plasma
            membrane where it specifically binds phosphatidylinositol
            3,4-bisphosphate. This protein may be involved in the formation of
            signaling complexes in the plasma membrane. Polymorphisms in this
            gene are associated with age-related macular degeneration.
            Alternate splicing results in multiple transcript variants. A
            pseudogene of this gene is found on chromosome 5.[provided by
            RefSeq, Sep 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.278213.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162895 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..380
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.13"
     Protein         1..380
                     /product="pleckstrin homology domain-containing family A
                     member 1 isoform 8"
                     /note="tandem PH domain-containing protein 1; pleckstrin
                     homology domain containing, family A (phosphoinositide
                     binding specific) member 1"
                     /calculated_mol_wt=43216
     Region          1..114
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          182..295
                     /region_name="PH2_TAPP1_2"
                     /note="Tandem PH-domain-containing proteins 1 and 2
                     Pleckstrin homology (PH) domain, C-terminal repeat;
                     cd13271"
                     /db_xref="CDD:270090"
     Site            order(197,199..200,208,219,229..230,262)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:270090"
     CDS             1..380
                     /gene="PLEKHA1"
                     /gene_synonym="TAPP1"
                     /coded_by="NM_001377250.1:120..1262"
                     /note="isoform 8 is encoded by transcript variant 22"
                     /db_xref="GeneID:59338"
                     /db_xref="HGNC:HGNC:14335"
                     /db_xref="MIM:607772"
ORIGIN      
        1 mpyvdrqnri cgfldieene nsgkflrryf ildtredsfv wymdnpqnlp sgssrvgaik
       61 ltyiskvsda tklrpkaefc fvmnagmrky flqandqqdl vewvnvlnka ikitqsdsqp
      121 nsdnlsrhge cgkkqvsyrt divggvpiit ptqkeevnec gesidrnnlk rsqshlpyft
      181 pkppqdsavi kagycvkqga vmknwkrryf qldentigyf kselekeplr viplkevhkv
      241 qeckqsdimm rdnlfeivtt srtfyvqads peemhswika vsgaivaqrg pgrsassmrq
      301 arrlsnpciq rsippvlqnp ntlsvlptqp ppphipqpla atlwsqplpw rsedftsllp
      361 rssqgtsrsr lslqenqlpk
//
LOCUS       NP_001135900             288 aa            linear   PRI 29-DEC-2022
DEFINITION  mortality factor 4-like protein 2 [Homo sapiens].
ACCESSION   NP_001135900
VERSION     NP_001135900.1
DBSOURCE    REFSEQ: accession NM_001142428.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 288)
  AUTHORS   Kooblall KG, Stokes VJ, Shariq OA, English KA, Stevenson M,
            Broxholme J, Wright B, Lockstone HE, Buck D, Grozinsky-Glasberg S,
            Yates CJ, Thakker RV and Lines KE.
  TITLE     miR-3156-5p is downregulated in serum of MEN1 patients and
            regulates expression of MORF4L2
  JOURNAL   Endocr Relat Cancer 29 (10), 557-568 (2022)
   PUBMED   35900839
  REMARK    GeneRIF: miR-3156-5p is downregulated in serum of MEN1 patients and
            regulates expression of MORF4L2.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 288)
  AUTHORS   Zheng X, Sun Z, Yu L, Shi D, Zhu M, Yao H and Li L.
  TITLE     Interactome Analysis of the Nucleocapsid Protein of SARS-CoV-2
            Virus
  JOURNAL   Pathogens 10 (9), 1155 (2021)
   PUBMED   34578187
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 288)
  AUTHORS   Zhang R, Ji Z, Yao Y, Zuo W, Yang M, Qu Y, Su Y, Ma G and Li Y.
  TITLE     Identification of hub genes in unstable atherosclerotic plaque by
            conjoint analysis of bioinformatics
  JOURNAL   Life Sci 262, 118517 (2020)
   PUBMED   33011223
  REMARK    GeneRIF: Identification of hub genes in unstable atherosclerotic
            plaque by conjoint analysis of bioinformatics.
REFERENCE   4  (residues 1 to 288)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 288)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 288)
  AUTHORS   Cai Y, Jin J, Tomomori-Sato C, Sato S, Sorokina I, Parmely TJ,
            Conaway RC and Conaway JW.
  TITLE     Identification of new subunits of the multiprotein mammalian
            TRRAP/TIP60-containing histone acetyltransferase complex
  JOURNAL   J Biol Chem 278 (44), 42733-42736 (2003)
   PUBMED   12963728
REFERENCE   7  (residues 1 to 288)
  AUTHORS   Yochum GS and Ayer DE.
  TITLE     Role for the mortality factors MORF4, MRGX, and MRG15 in
            transcriptional repression via associations with Pf1, mSin3A, and
            Transducin-Like Enhancer of Split
  JOURNAL   Mol Cell Biol 22 (22), 7868-7876 (2002)
   PUBMED   12391155
REFERENCE   8  (residues 1 to 288)
  AUTHORS   Sakai K, Shirakawa T, Li Y, Kitagawa Y and Hirose G.
  TITLE     Interaction of a paraneoplastic cerebellar degeneration-associated
            neuronal protein with the nuclear helix-loop-helix leucine zipper
            protein MRG X
  JOURNAL   Mol Cell Neurosci 19 (4), 477-484 (2002)
   PUBMED   11988016
REFERENCE   9  (residues 1 to 288)
  AUTHORS   Hoja MR, Wahlestedt C and Hoog C.
  TITLE     A visual intracellular classification strategy for uncharacterized
            human proteins
  JOURNAL   Exp Cell Res 259 (1), 239-246 (2000)
   PUBMED   10942595
REFERENCE   10 (residues 1 to 288)
  AUTHORS   Bertram MJ, Berube NG, Hang-Swanson X, Ran Q, Leung JK, Bryce S,
            Spurgers K, Bick RJ, Baldini A, Ning Y, Clark LJ, Parkinson EK,
            Barrett JC, Smith JR and Pereira-Smith OM.
  TITLE     Identification of a gene that reverses the immortal phenotype of a
            subset of cells and is a member of a novel family of transcription
            factor-like genes
  JOURNAL   Mol Cell Biol 19 (2), 1479-1485 (1999)
   PUBMED   9891081
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA068448.1 and BC093013.1.
            
            Transcript Variant: This variant (12) differs in the 5' UTR,
            compared to variant 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.769371.1,
                                           SRR18074967.3232083.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..288
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.2"
     Protein         1..288
                     /product="mortality factor 4-like protein 2"
                     /note="MSL3-2 protein; protein MSL3-2; MORF-related gene X
                     protein; transcription factor-like protein MRGX"
                     /calculated_mol_wt=32177
     Region          1..113
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15014.1)"
     Site            71
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15014.1)"
     Region          110..276
                     /region_name="MRG"
                     /note="pfam05712"
                     /db_xref="CDD:399022"
     CDS             1..288
                     /gene="MORF4L2"
                     /gene_synonym="MORFL2; MRGX"
                     /coded_by="NM_001142428.2:325..1191"
                     /db_xref="CCDS:CCDS14512.1"
                     /db_xref="GeneID:9643"
                     /db_xref="HGNC:HGNC:16849"
                     /db_xref="MIM:300409"
ORIGIN      
        1 mssrkqgsqp rgqqsaeeen fkkptrsnmq rskmrgassg kktagpqqkn lepalpgrwg
       61 grsaenppsg svrktrknkq ktpgngdggs tseapqpprk kraradptve seeafknrme
      121 vkvkipeelk pwlvedwdlv trqkqlfqlp akknvdaile eyanckksqg nvdnkeyavn
      181 evvagikeyf nvmlgtqlly kferpqyaei llahpdapms qvygaphllr lfvrigamla
      241 ytpldeksla lllgylhdfl kylaknsasl ftasdykvas aeyhrkal
//
LOCUS       NP_001369369             134 aa            linear   PRI 29-DEC-2022
DEFINITION  coiled-coil domain-containing protein 32 isoform 3 [Homo sapiens].
ACCESSION   NP_001369369
VERSION     NP_001369369.1
DBSOURCE    REFSEQ: accession NM_001382440.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 134)
  AUTHORS   Wainberg M, Kamber RA, Balsubramani A, Meyers RM, Sinnott-Armstrong
            N, Hornburg D, Jiang L, Chan J, Jian R, Gu M, Shcherbina A,
            Dubreuil MM, Spees K, Meuleman W, Snyder MP, Bassik MC and Kundaje
            A.
  TITLE     A genome-wide atlas of co-essential modules assigns function to
            uncharacterized genes
  JOURNAL   Nat Genet 53 (5), 638-649 (2021)
   PUBMED   33859415
REFERENCE   2  (residues 1 to 134)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 134)
  AUTHORS   Harel T, Griffin JN, Arbogast T, Monroe TO, Palombo F, Martinelli
            M, Seri M, Pippucci T, Elpeleg O and Katsanis N.
  TITLE     Loss of function mutations in CCDC32 cause a congenital syndrome
            characterized by craniofacial, cardiac and neurodevelopmental
            anomalies
  JOURNAL   Hum Mol Genet 29 (9), 1489-1497 (2020)
   PUBMED   32307552
  REMARK    GeneRIF: Loss of function mutations in CCDC32 cause a congenital
            syndrome characterized by craniofacial, cardiac and
            neurodevelopmental anomalies.
REFERENCE   4  (residues 1 to 134)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 134)
  AUTHORS   Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
            Safari A, Liu D and Songyang Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   6  (residues 1 to 134)
  AUTHORS   Adams MD, Dubnick M, Kerlavage AR, Moreno R, Kelley JM, Utterback
            TR, Nagle JW, Fields C and Venter JC.
  TITLE     Sequence identification of 2,375 human brain genes
  JOURNAL   Nature 355 (6361), 632-634 (1992)
   PUBMED   1538749
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091045.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.2794711.1,
                                           SRR14038195.1126952.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..134
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     Protein         1..134
                     /product="coiled-coil domain-containing protein 32 isoform
                     3"
                     /note="uncharacterized protein C15orf57; coiled-coil
                     domain-containing protein 32"
                     /calculated_mol_wt=14939
     Region          17..>133
                     /region_name="CCDC32"
                     /note="Coiled-coil domain containing 32; pfam14989"
                     /db_xref="CDD:434370"
     CDS             1..134
                     /gene="CCDC32"
                     /gene_synonym="C15orf57; CFNDS"
                     /coded_by="NM_001382440.1:75..479"
                     /note="isoform 3 is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS73706.1"
                     /db_xref="GeneID:90416"
                     /db_xref="HGNC:HGNC:28295"
                     /db_xref="MIM:618941"
ORIGIN      
        1 mkmfesadst atrsgqdlwa eicsclpnpe qedgannafs dsfvdscpeg egqrevadfa
       61 vqpavkpwap lqdsevylas lekklrrikg lnqevtskdm lrtlaqakke cwdrflqekl
      121 aseffvdgld sder
//
LOCUS       NP_001364958             499 aa            linear   PRI 29-DEC-2022
DEFINITION  zinc finger protein 34 isoform 4 [Homo sapiens].
ACCESSION   NP_001364958 XP_011515622
VERSION     NP_001364958.1
DBSOURCE    REFSEQ: accession NM_001378029.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 499)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   2  (residues 1 to 499)
  AUTHORS   Subaran RL, Odgerel Z, Swaminathan R, Glatt CE and Weissman MM.
  TITLE     Novel variants in ZNF34 and other brain-expressed transcription
            factors are shared among early-onset MDD relatives
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 171B (3), 333-341 (2016)
   PUBMED   26823146
  REMARK    GeneRIF: genes encoding transcription factors expressed in the
            brain might be an important group of major depressive disorder
            candidate genes.
REFERENCE   3  (residues 1 to 499)
  AUTHORS   La Pillo B, Ludecke HJ, Thiesen HJ and Horsthemke B.
  TITLE     A BanII RFLP in the ZNF34 zinc finger gene on chromosome 8
  JOURNAL   Hum Mol Genet 2 (8), 1331 (1993)
   PUBMED   8104631
REFERENCE   4  (residues 1 to 499)
  AUTHORS   Huebner K, Druck T, Croce CM and Thiesen HJ.
  TITLE     Twenty-seven nonoverlapping zinc finger cDNAs from human T cells
            map to nine different chromosomes with apparent clustering
  JOURNAL   Am J Hum Genet 48 (4), 726-740 (1991)
   PUBMED   2014798
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF235103.5.
            On Jan 24, 2020 this sequence version replaced XP_011515622.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3081484.1,
                                           SRR1803615.233214.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..499
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..499
                     /product="zinc finger protein 34 isoform 4"
                     /note="zinc finger protein 34 (KOX 32); zinc finger
                     protein KOX32"
                     /calculated_mol_wt=57430
     Region          14..80
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          127..493
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          136..156
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(136,139,152,156)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          192..212
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(192,195,208,212)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          220..240
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          248..268
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(248,251,264,268)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          276..296
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(276,279,292,296)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          304..324
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          332..352
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(332,335,348,352)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(337,339,341,343..344,347..348,351,365,367,371..372,
                     375..376,379,393,395,397,399..400,403..404,407)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          360..380
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          388..408
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          416..436
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(416,419,432,436)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(421,423,425,427..428,431..432,435,449,451,455..456,
                     459..460,463,477,479,481,483..484,487..488,491)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          444..464
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          472..492
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..499
                     /gene="ZNF34"
                     /gene_synonym="KOX32"
                     /coded_by="NM_001378029.1:147..1646"
                     /note="isoform 4 is encoded by transcript variant 6"
                     /db_xref="GeneID:80778"
                     /db_xref="HGNC:HGNC:13098"
                     /db_xref="MIM:194526"
ORIGIN      
        1 maalflsapp qaevtfedva vylsreewgr lgpaqrglyr dvmletygnl vslalgtrte
       61 ykeltsqetf geedpqgsep veacdhisks egsleklveq rgpravtltn gessresggn
      121 lrllsrpvpd qrphkcdice qsfeqrsyln nhkrvhrskk tntvrnsgei fsanlvvked
      181 qkiptgkklh ycsycgktfr ysanlvkhqr lhteekpykc decgkafsqs cefinhrrmh
      241 sgeipyrcde cgktftrrpn lmkhqrihtg ekpykcgecg khfsayssli yhqrihtgek
      301 pykcndcgka fsdgsilirh rrthtgekpf eckecgkgft qssnliqhqr ihtgekpykc
      361 necekafiqk tklvehqrsh tgekpyecnd cgkvfsqsth liqhqrihtg ekpykcsecg
      421 kafhnssrli hhqrlhhgek pyrcsdckka fsqstyliqh rrihtgekpy kcsecgkafr
      481 hssnmcqhqr ihlredfsm
//
LOCUS       NP_001374363              74 aa            linear   PRI 30-DEC-2022
DEFINITION  zinc finger protein 544 isoform 23 [Homo sapiens].
ACCESSION   NP_001374363
VERSION     NP_001374363.1
DBSOURCE    REFSEQ: accession NM_001387434.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 74)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 74)
  AUTHORS   Sugis E, Dauvillier J, Leontjeva A, Adler P, Hindie V, Moncion T,
            Collura V, Daudin R, Loe-Mie Y, Herault Y, Lambert JC, Hermjakob H,
            Pupko T, Rain JC, Xenarios I, Vilo J, Simonneau M and Peterson H.
  TITLE     HENA, heterogeneous network-based data set for Alzheimer's disease
  JOURNAL   Sci Data 6 (1), 151 (2019)
   PUBMED   31413325
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 74)
  AUTHORS   Lasky-Su J, Neale BM, Franke B, Anney RJ, Zhou K, Maller JB,
            Vasquez AA, Chen W, Asherson P, Buitelaar J, Banaschewski T,
            Ebstein R, Gill M, Miranda A, Mulas F, Oades RD, Roeyers H,
            Rothenberger A, Sergeant J, Sonuga-Barke E, Steinhausen HC, Taylor
            E, Daly M, Laird N, Lange C and Faraone SV.
  TITLE     Genome-wide association scan of quantitative traits for attention
            deficit hyperactivity disorder identifies novel associations and
            confirms candidate gene associations
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 147B (8), 1345-1354 (2008)
   PUBMED   18821565
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC020915.6.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.590135.1,
                                           DRR138512.220784.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144333, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..74
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     Protein         1..74
                     /product="zinc finger protein 544 isoform 23"
                     /calculated_mol_wt=8226
     Region          14..>53
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     CDS             1..74
                     /gene="ZNF544"
                     /coded_by="NM_001387434.1:300..524"
                     /note="isoform 23 is encoded by transcript variant 58"
                     /db_xref="CCDS:CCDS92701.1"
                     /db_xref="GeneID:27300"
                     /db_xref="HGNC:HGNC:16759"
ORIGIN      
        1 mearsmlvpp qasvcfedva maftqeeweq ldlaqrtlyr evtletwehi vslagarrgp
       61 vqgraggpps lkkw
//
LOCUS       NP_001333877             373 aa            linear   PRI 31-DEC-2022
DEFINITION  exonuclease V [Homo sapiens].
ACCESSION   NP_001333877 XP_011540272
VERSION     NP_001333877.1
DBSOURCE    REFSEQ: accession NM_001346948.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 373)
  AUTHORS   Hambarde S, Tsai CL, Pandita RK, Bacolla A, Maitra A, Charaka V,
            Hunt CR, Kumar R, Limbo O, Le Meur R, Chazin WJ, Tsutakawa SE,
            Russell P, Schlacher K, Pandita TK and Tainer JA.
  TITLE     EXO5-DNA structure and BLM interactions direct DNA resection
            critical for ATR-dependent replication restart
  JOURNAL   Mol Cell 81 (14), 2989-3006 (2021)
   PUBMED   34197737
  REMARK    GeneRIF: EXO5-DNA structure and BLM interactions direct DNA
            resection critical for ATR-dependent replication restart.
REFERENCE   2  (residues 1 to 373)
  AUTHORS   Ali S, Zhang Y, Zhou M, Li H, Jin W, Zheng L, Yu X, Stark JM,
            Weitzel JN and Shen B.
  TITLE     Functional deficiency of DNA repair gene EXO5 results in
            androgen-induced genomic instability and prostate tumorigenesis
  JOURNAL   Oncogene 39 (6), 1246-1259 (2020)
   PUBMED   31616062
  REMARK    GeneRIF: Functional deficiency of DNA repair gene EXO5 results in
            androgen-induced genomic instability and prostate tumorigenesis.
REFERENCE   3  (residues 1 to 373)
  AUTHORS   Paumard-Hernandez B, Calvete O, Inglada Perez L, Tejero H,
            Al-Shahrour F, Pita G, Barroso A, Carlos Trivino J, Urioste M,
            Valverde C, Gonzalez Billalabeitia E, Quiroga V, Francisco
            Rodriguez Moreno J, Fernandez Aramburo A, Lopez C, Maroto P, Sastre
            J, Jose Juan Fita M, Duran I, Lorenzo-Lorenzo I, Iranzo P, Garcia
            Del Muro X, Ros S, Zambrana F, Maria Autran A and Benitez J.
  TITLE     Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel
            susceptibility genes in testicular cancer
  JOURNAL   Int J Cancer 143 (8), 1954-1962 (2018)
   PUBMED   29761480
  REMARK    GeneRIF: Three of them [PLEC (OR = 6.28, p = 6.42 x 10(-23) )
            (p.Arg2016Trp), EXO5 (OR = 3.37, p = 4.82 x 10(-09) )
            (p.Arg344AlafsTer10) and DNAH7 (OR = 1.64, p = 0.048)] were
            replicated as potential candidates.
REFERENCE   4  (residues 1 to 373)
  AUTHORS   Sparks JL, Kumar R, Singh M, Wold MS, Pandita TK and Burgers PM.
  TITLE     Human exonuclease 5 is a novel sliding exonuclease required for
            genome stability
  JOURNAL   J Biol Chem 287 (51), 42773-42783 (2012)
   PUBMED   23095756
  REMARK    GeneRIF: The human homolog (C1orf176; EXO5) that functions in the
            repair of nuclear DNA damage.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA630059.1, AK024797.1 and
            CA419097.1.
            On Nov 12, 2016 this sequence version replaced XP_011540272.1.
            
            Summary: The protein encoded by this gene is a single-stranded DNA
            (ssDNA)-specific exonuclease that can slide along the DNA before
            cutting it. However, human replication protein A binds ssDNA and
            restricts sliding of the encoded protein, providing a
            5'-directionality to the enzyme. This protein localizes to nuclear
            repair loci after DNA damage. [provided by RefSeq, Nov 2016].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. All variants encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.1419739.1,
                                           SRR14038193.2311138.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..373
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..373
                     /product="exonuclease V"
                     /note="defects in morphology protein 1 homolog; probable
                     exonuclease V; defects in morphology 1 homolog"
                     /calculated_mol_wt=41685
     Region          71..355
                     /region_name="Exo5"
                     /note="Exonuclease V - a 5' deoxyribonuclease; pfam09810"
                     /db_xref="CDD:430843"
     CDS             1..373
                     /gene="EXO5"
                     /gene_synonym="C1orf176; DEM1; Exo V; hExo5"
                     /coded_by="NM_001346948.2:142..1263"
                     /db_xref="CCDS:CCDS453.1"
                     /db_xref="GeneID:64789"
                     /db_xref="HGNC:HGNC:26115"
                     /db_xref="MIM:618601"
ORIGIN      
        1 maetreeetv saeasgfsdl sdseflefld ledaqeskal vnmpgpsses lgkddkpisl
       61 qnwkrgldil spmerfhlky lyvtdlatqn wcelqtaygk elpgflapek aavldtgasi
      121 hlarelelhd lvtvpvttke dawaikflni llliptlqse ghirefpvfg egegvllvgv
      181 idelhytakg elelaelktr rrpmlpleaq kkkdcfqvsl ykyifdamvq gkvtpaslih
      241 htklclekpl gpsvlrhaqq ggfsvkslgd lmelvflslt lsdlpvidil kieyihqeta
      301 tvlgteivaf kekevrakvq hymaywmghr epqgvdveea wkcrtctyad icewrkgsgv
      361 lsstlapqvk kak
//
LOCUS       NP_001182064             329 aa            linear   PRI 31-DEC-2022
DEFINITION  RING finger protein 225 [Homo sapiens].
ACCESSION   NP_001182064 XP_001726278 XP_934913 XP_943855
VERSION     NP_001182064.1
DBSOURCE    REFSEQ: accession NM_001195135.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 329)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012313.7.
            On or before Aug 25, 2010 this sequence version replaced
            XP_934913.2, XP_943855.2, XP_001726278.1.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000601382.3/ ENSP00000470441.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..329
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     Protein         1..329
                     /product="RING finger protein 225"
                     /calculated_mol_wt=34658
     Region          1..55
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (M0QZC1.2)"
     Region          62..118
                     /region_name="RING-HC_RNF183-like"
                     /note="RING finger, HC subclass, found in RING finger
                     protein RNF183, RNF223, RNF225 and similar proteins;
                     cd16556"
                     /db_xref="CDD:438218"
     Region          122..181
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (M0QZC1.2)"
     Site            203..223
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (M0QZC1.2)"
     Region          248..329
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (M0QZC1.2)"
     CDS             1..329
                     /gene="RNF225"
                     /coded_by="NM_001195135.2:435..1424"
                     /db_xref="CCDS:CCDS74477.1"
                     /db_xref="GeneID:646862"
                     /db_xref="HGNC:HGNC:51249"
ORIGIN      
        1 mpcprpfwlr hsrapqgsgp sspgslsapr spsrgedqee eeeeegdgsp gsgpilppas
       61 pveclicvss fdgvfklpkr ldcghvfcle clarlslata gggnavacpv craptrlapr
      121 rglpalptqs gllprdarap psrqgsvrfd rrrgllylrp pppppgprka rapppppplr
      181 lgrplsrrls laspawvfna avalavlvaa glvvsgvyif fliphatssg pprpqlvala
      241 papgfswfpp rpppgspwap awtprptgpd ldtalpgtae dalepeagpe dpaeaertld
      301 rrsdgtwgte agpgwapwpr garrlwgsq
//
LOCUS       NP_001352131             511 aa            linear   PRI 31-DEC-2022
DEFINITION  myocyte-specific enhancer factor 2A isoform 7 [Homo sapiens].
ACCESSION   NP_001352131
VERSION     NP_001352131.1
DBSOURCE    REFSEQ: accession NM_001365202.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 511)
  AUTHORS   Gao Y, Liu Y, Zheng D, Ho C, Wen D, Sun J, Huang L, Liu Y, Li Q and
            Zhang Y.
  TITLE     HDAC5-mediated Smad7 silencing through MEF2A is critical for
            fibroblast activation and hypertrophic scar formation
  JOURNAL   Int J Biol Sci 18 (15), 5724-5739 (2022)
   PUBMED   36263180
  REMARK    GeneRIF: HDAC5-mediated Smad7 silencing through MEF2A is critical
            for fibroblast activation and hypertrophic scar formation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 511)
  AUTHORS   Zhang D, Zhang G, Yu K, Zhang X and Jiang A.
  TITLE     MiRNA-615-3p Alleviates Oxidative Stress Injury of Human
            Cardiomyocytes Via PI3K/Akt Signaling by Targeting MEF2A
  JOURNAL   Anatol J Cardiol 26 (5), 373-381 (2022)
   PUBMED   35552173
  REMARK    GeneRIF: MiRNA-615-3p Alleviates Oxidative Stress Injury of Human
            Cardiomyocytes Via PI3K/Akt Signaling by Targeting MEF2A.
REFERENCE   3  (residues 1 to 511)
  AUTHORS   Cilenti F, Barbiera G, Caronni N, Iodice D, Montaldo E, Barresi S,
            Lusito E, Cuzzola V, Vittoria FM, Mezzanzanica L, Miotto P, Di
            Lucia P, Lazarevic D, Cirillo DM, Iannacone M, Genua M and Ostuni
            R.
  TITLE     A PGE2-MEF2A axis enables context-dependent control of inflammatory
            gene expression
  JOURNAL   Immunity 54 (8), 1665-1682 (2021)
   PUBMED   34129840
  REMARK    GeneRIF: A PGE2-MEF2A axis enables context-dependent control of
            inflammatory gene expression.
REFERENCE   4  (residues 1 to 511)
  AUTHORS   Xiao Q, Gan Y, Li Y, Fan L, Liu J, Lu P, Liu J, Chen A, Shu G and
            Yin G.
  TITLE     MEF2A transcriptionally upregulates the expression of ZEB2 and
            CTNNB1 in colorectal cancer to promote tumor progression
  JOURNAL   Oncogene 40 (19), 3364-3377 (2021)
   PUBMED   33863999
  REMARK    GeneRIF: MEF2A transcriptionally upregulates the expression of ZEB2
            and CTNNB1 in colorectal cancer to promote tumor progression.
REFERENCE   5  (residues 1 to 511)
  AUTHORS   Chen W, Zhang K, Yang Y, Guo Z, Wang X, Teng B, Zhao Q, Huang C and
            Qiu Z.
  TITLE     MEF2A-mediated lncRNA HCP5 Inhibits Gastric Cancer Progression via
            MiR-106b-5p/p21 Axis
  JOURNAL   Int J Biol Sci 17 (2), 623-634 (2021)
   PUBMED   33613117
  REMARK    GeneRIF: MEF2A-mediated lncRNA HCP5 Inhibits Gastric Cancer
            Progression via MiR-106b-5p/p21 Axis.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 511)
  AUTHORS   Han TH and Prywes R.
  TITLE     Regulatory role of MEF2D in serum induction of the c-jun promoter
  JOURNAL   Mol Cell Biol 15 (6), 2907-2915 (1995)
   PUBMED   7760790
REFERENCE   7  (residues 1 to 511)
  AUTHORS   Kaushal S, Schneider JW, Nadal-Ginard B and Mahdavi V.
  TITLE     Activation of the myogenic lineage by MEF2A, a factor that induces
            and cooperates with MyoD
  JOURNAL   Science 266 (5188), 1236-1240 (1994)
   PUBMED   7973707
REFERENCE   8  (residues 1 to 511)
  AUTHORS   Funk WD and Wright WE.
  TITLE     Cyclic amplification and selection of targets for multicomponent
            complexes: myogenin interacts with factors recognizing binding
            sites for basic helix-loop-helix, nuclear factor 1,
            myocyte-specific enhancer-binding factor 2, and COMP1 factor
  JOURNAL   Proc Natl Acad Sci U S A 89 (20), 9484-9488 (1992)
   PUBMED   1329097
REFERENCE   9  (residues 1 to 511)
  AUTHORS   Yu YT, Breitbart RE, Smoot LB, Lee Y, Mahdavi V and Nadal-Ginard B.
  TITLE     Human myocyte-specific enhancer factor 2 comprises a group of
            tissue-restricted MADS box transcription factors
  JOURNAL   Genes Dev 6 (9), 1783-1798 (1992)
   PUBMED   1516833
REFERENCE   10 (residues 1 to 511)
  AUTHORS   Pollock R and Treisman R.
  TITLE     Human SRF-related proteins: DNA-binding properties and potential
            regulatory targets
  JOURNAL   Genes Dev 5 (12A), 2327-2341 (1991)
   PUBMED   1748287
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC103967.4 and AC022692.11.
            
            Summary: The protein encoded by this gene is a DNA-binding
            transcription factor that activates many muscle-specific, growth
            factor-induced, and stress-induced genes. The encoded protein can
            act as a homodimer or as a heterodimer and is involved in several
            cellular processes, including muscle development, neuronal
            differentiation, cell growth control, and apoptosis. Defects in
            this gene could be a cause of autosomal dominant coronary artery
            disease 1 with myocardial infarction (ADCAD1). Several transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Jan 2010].
            
            Sequence Note:.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.98689.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145245, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..511
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     Protein         1..511
                     /product="myocyte-specific enhancer factor 2A isoform 7"
                     /note="MADS box transcription enhancer factor 2,
                     polypeptide A (myocyte enhancer factor 2A);
                     myocyte-specific enhancer factor 2A; serum response
                     factor-like protein 1"
                     /calculated_mol_wt=55096
     Region          2..78
                     /region_name="MADS_MEF2_like"
                     /note="MEF2 (myocyte enhancer factor 2)-like/Type II
                     subfamily of MADS (MCM1, Agamous, Deficiens, and SRF
                     (serum response factor) box family of eukaryotic
                     transcriptional regulators. Binds DNA and exists as hetero
                     and homo-dimers. Differs from SRF-like/Type I...; cd00265"
                     /db_xref="CDD:238165"
     Site            order(2..4,6,8,13,15,19..20,23..24,26..27,30..31,33..34,
                     38)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238165"
     Site            order(21,28..29,32..33,35..36,39,44,46,48,54,56,62,65..66,
                     69,72..73)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238165"
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q02078.1)"
     Site            59
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q02078.1)"
     Site            59
                     /site_type="other"
                     /note="putative phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:238165"
     Region          97..158
                     /region_name="HJURP_C"
                     /note="Holliday junction regulator protein family
                     C-terminal repeat; pfam12347"
                     /db_xref="CDD:432495"
     Site            98
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q02078.1)"
     Region          177..233
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02078.1)"
     Site            180..181
                     /site_type="cleavage"
                     /note="Cleavage. /evidence=ECO:0000305; propagated from
                     UniProtKB/Swiss-Prot (Q02078.1)"
     Site            217..218
                     /site_type="cleavage"
                     /note="Cleavage. /evidence=ECO:0000305; propagated from
                     UniProtKB/Swiss-Prot (Q02078.1)"
     Site            239
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q02078.1)"
     Region          247..274
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02078.1)"
     Site            253
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q02078.1)"
     Site            259
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK14.
                     /evidence=ECO:0000269|PubMed:12586839,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q02078.1)"
     Region          270..287
                     /region_name="Required for interaction with MAPKs"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02078.1)"
     Region          293..300
                     /region_name="Beta domain"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02078.1)"
     Site            316
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by MAPK7 and MAPK14.
                     /evidence=ECO:0000269|PubMed:10330143,
                     ECO:0000269|PubMed:10849446, ECO:0000269|PubMed:12586839,
                     ECO:0000269|PubMed:17785444, ECO:0000269|PubMed:9858528;
                     Phosphothreonine, by NLK.
                     /evidence=ECO:0000269|PubMed:10330143,
                     ECO:0000269|PubMed:10849446, ECO:0000269|PubMed:12586839,
                     ECO:0000269|PubMed:17785444, ECO:0000269|PubMed:9858528;
                     propagated from UniProtKB/Swiss-Prot (Q02078.1)"
     Site            323
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by MAPK7 and MAPK14.
                     /evidence=ECO:0000269|PubMed:10330143,
                     ECO:0000269|PubMed:10849446, ECO:0000269|PubMed:12586839,
                     ECO:0000269|PubMed:9858528; propagated from
                     UniProtKB/Swiss-Prot (Q02078.1)"
     Site            359
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK7.
                     /evidence=ECO:0000269|PubMed:10849446; propagated from
                     UniProtKB/Swiss-Prot (Q02078.1)"
     Region          401..511
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02078.1)"
     Site            407
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q2MJT0; propagated from
                     UniProtKB/Swiss-Prot (Q02078.1)"
     Site            412
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CDK5.
                     /evidence=ECO:0000269|PubMed:12586839,
                     ECO:0000269|PubMed:12691662, ECO:0000269|PubMed:16371476,
                     ECO:0000269|PubMed:16484498; propagated from
                     UniProtKB/Swiss-Prot (Q02078.1)"
     Site            419
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q60929; propagated from
                     UniProtKB/Swiss-Prot (Q02078.1)"
     Site            457
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK.
                     /evidence=ECO:0000269|PubMed:9858528; propagated from
                     UniProtKB/Swiss-Prot (Q02078.1)"
     Site            470..471
                     /site_type="cleavage"
                     /note="Cleavage. /evidence=ECO:0000305; propagated from
                     UniProtKB/Swiss-Prot (Q02078.1)"
     CDS             1..511
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /coded_by="NM_001365202.3:264..1799"
                     /note="isoform 7 is encoded by transcript variant 14"
                     /db_xref="CCDS:CCDS92068.1"
                     /db_xref="GeneID:4205"
                     /db_xref="HGNC:HGNC:6993"
                     /db_xref="MIM:600660"
ORIGIN      
        1 mgrkkiqitr imdernrqvt ftkrkfglmk kayelsvlcd ceialiifns snklfqyast
       61 dmdkvllkyt eynephesrt nsdivealnk kehrgcdspd pdtsyvltph teekykkine
      121 efdnmmrnhk iavstkpglp pqnfsmsvtv pvtspnalsy tnpgsslvsp slaasstltd
      181 ssmlsppqtt lhrnvspgap qrppstgnag gmlsttdltv pngagsspvg ngfvnsrasp
      241 nligatgans lgkvmptksp pppgggnlgm nsrkpdlrvv ippsskgmmp plseeeelel
      301 ntqrisssqa tqplatpvvs vttpslppqg lvysamptay ntdysltsad lsalqgfnsp
      361 gmlslgqvsa wqqhhlgqaa lsslvaggql sqgsnlsint nqnisiksep ispprdrmtp
      421 sgfqqqqqqq qqqqpppppq pqpqppqpqp rqemgrspvd slssssssyd gsdredprgd
      481 fhspivlgrp pntedresps vkrmrmdawv t
//
LOCUS       NP_001387013            1070 aa            linear   PRI 01-JAN-2023
DEFINITION  transcription elongation regulator 1 isoform 7 [Homo sapiens].
ACCESSION   NP_001387013
VERSION     NP_001387013.1
DBSOURCE    REFSEQ: accession NM_001400084.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1070)
  AUTHORS   Moreno-Castro C, Prieto-Sanchez S, Sanchez-Hernandez N,
            Hernandez-Munain C and Sune C.
  TITLE     Role for the splicing factor TCERG1 in Cajal body integrity and
            snRNP assembly
  JOURNAL   J Cell Sci 132 (22) (2019)
   PUBMED   31636114
  REMARK    GeneRIF: Results of this study suggest that TCERG1 plays an
            important role in Cajal body formation and snRNP biogenesis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1070)
  AUTHORS   Munoz-Cobo JP, Sanchez-Hernandez N, Gutierrez S, El Yousfi Y,
            Montes M, Gallego C, Hernandez-Munain C and Sune C.
  TITLE     Transcriptional Elongation Regulator 1 Affects Transcription and
            Splicing of Genes Associated with Cellular Morphology and
            Cytoskeleton Dynamics and Is Required for Neurite Outgrowth in
            Neuroblastoma Cells and Primary Neuronal Cultures
  JOURNAL   Mol Neurobiol 54 (10), 7808-7823 (2017)
   PUBMED   27844289
  REMARK    GeneRIF: TCERG1 affects expression of multiple mRNAs involved in
            neuron projection development.
REFERENCE   3  (residues 1 to 1070)
  AUTHORS   Sanchez-Hernandez N, Boireau S, Schmidt U, Munoz-Cobo JP,
            Hernandez-Munain C, Bertrand E and Sune C.
  TITLE     The in vivo dynamics of TCERG1, a factor that couples
            transcriptional elongation with splicing
  JOURNAL   RNA 22 (4), 571-582 (2016)
   PUBMED   26873599
  REMARK    GeneRIF: TCERG1 binds independently to elongation and splicing
            complexes, thus performing their coupling by transient interactions
            rather than by stable association with one or the other complexes.
REFERENCE   4  (residues 1 to 1070)
  AUTHORS   Miller NJ, Schick K, Timchenko N, Harrison E and Roesler WJ.
  TITLE     The Glutamine-Alanine Repeat Domain of TCERG1 is Required for the
            Inhibition of the Growth Arrest Activity of C/EBPalpha
  JOURNAL   J Cell Biochem 117 (3), 612-620 (2016)
   PUBMED   26264132
  REMARK    GeneRIF: The QA repeat domain of TCERG1 is required for
            relocalization of CEBPalpha.
REFERENCE   5  (residues 1 to 1070)
  AUTHORS   Montes M, Coiras M, Becerra S, Moreno-Castro C, Mateos E, Majuelos
            J, Oliver FJ, Hernandez-Munain C, Alcami J and Sune C.
  TITLE     Functional Consequences for Apoptosis by Transcription Elongation
            Regulator 1 (TCERG1)-Mediated Bcl-x and Fas/CD95 Alternative
            Splicing
  JOURNAL   PLoS One 10 (10), e0139812 (2015)
   PUBMED   26462236
  REMARK    GeneRIF: TCERG1 sensitizes a cell to apoptotic agents, thus
            promoting apoptosis by regulating the alternative splicing of both
            the Bcl-x and Fas/CD95 genes.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1070)
  AUTHORS   Bohne J, Cole SE, Sune C, Lindman BR, Ko VD, Vogt TF and
            Garcia-Blanco MA.
  TITLE     Expression analysis and mapping of the mouse and human
            transcriptional regulator CA150
  JOURNAL   Mamm Genome 11 (10), 930-933 (2000)
   PUBMED   11003711
REFERENCE   7  (residues 1 to 1070)
  AUTHORS   Carty SM, Goldstrohm AC, Sune C, Garcia-Blanco MA and Greenleaf AL.
  TITLE     Protein-interaction modules that organize nuclear function: FF
            domains of CA150 bind the phosphoCTD of RNA polymerase II
  JOURNAL   Proc Natl Acad Sci U S A 97 (16), 9015-9020 (2000)
   PUBMED   10908677
REFERENCE   8  (residues 1 to 1070)
  AUTHORS   Sune C and Garcia-Blanco MA.
  TITLE     Transcriptional cofactor CA150 regulates RNA polymerase II
            elongation in a TATA-box-dependent manner
  JOURNAL   Mol Cell Biol 19 (7), 4719-4728 (1999)
   PUBMED   10373521
REFERENCE   9  (residues 1 to 1070)
  AUTHORS   Neubauer G, King A, Rappsilber J, Calvio C, Watson M, Ajuh P,
            Sleeman J, Lamond A and Mann M.
  TITLE     Mass spectrometry and EST-database searching allows
            characterization of the multi-protein spliceosome complex
  JOURNAL   Nat Genet 20 (1), 46-50 (1998)
   PUBMED   9731529
REFERENCE   10 (residues 1 to 1070)
  AUTHORS   Sune C, Hayashi T, Liu Y, Lane WS, Young RA and Garcia-Blanco MA.
  TITLE     CA150, a nuclear protein associated with the RNA polymerase II
            holoenzyme, is involved in Tat-activated human immunodeficiency
            virus type 1 transcription
  JOURNAL   Mol Cell Biol 17 (10), 6029-6039 (1997)
   PUBMED   9315662
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011375.5.
            
            Summary: This gene encodes a nuclear protein that regulates
            transcriptional elongation and pre-mRNA splicing. The encoded
            protein interacts with the hyperphosphorylated C-terminal domain of
            RNA polymerase II via multiple FF domains, and with the pre-mRNA
            splicing factor SF1 via a WW domain. Alternative splicing results
            in multiple transcripts variants encoding different isoforms.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.2186617.1,
                                           SRR14038196.1048461.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1070
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     Protein         1..1070
                     /product="transcription elongation regulator 1 isoform 7"
                     /note="transcription factor CA150; TATA box binding
                     protein (TBP)-associated factor, RNA polymerase II, S,
                     150kD; TATA box-binding protein-associated factor 2S;
                     co-activator of 150 kDa"
                     /calculated_mol_wt=121090
     Region          137..162
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Site            order(148,159)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          <299..>385
                     /region_name="PRK13729"
                     /note="conjugal transfer pilus assembly protein TraB;
                     Provisional"
                     /db_xref="CDD:184281"
     Region          393..990
                     /region_name="PRP40"
                     /note="Splicing factor [RNA processing and modification];
                     COG5104"
                     /db_xref="CDD:227435"
     Region          987..1046
                     /region_name="FF"
                     /note="FF domain; pfam01846"
                     /db_xref="CDD:426471"
     CDS             1..1070
                     /gene="TCERG1"
                     /gene_synonym="CA150; TAF2S; Urn1"
                     /coded_by="NM_001400084.1:18..3230"
                     /note="isoform 7 is encoded by transcript variant 10"
                     /db_xref="GeneID:10915"
                     /db_xref="HGNC:HGNC:15630"
                     /db_xref="MIM:605409"
ORIGIN      
        1 maerggdgge serfnpgelr maqqqalrfr gpapppnavm rgppplmrpp ppfgmmrgpp
       61 ppprppfgrp pfdpnmppmp ppggipppmg pphlqrppfm pppmssmppp pgmmfppgmp
      121 pvtapgtpal ppteeiwven ktpdgkvyyy nartresawt kpdgvkviqq seltpmlaaq
      181 aqvqaqaqaq aqaqaqaqaq aqaqaqaqaq aqaqaqaqaq aqaqaqaqaq aqaqaqaqaq
      241 aqvqaqvqaq vqaqavgast pttsspapav ststssstps sttsttttat svaqtvsttp
      301 vqtvpqphpq tlppavphsv pqpttaipaf ppvmvppfrv plpgmpiplp gvammqivsc
      361 pyvktvattk tgvlpgmapp ivpmihpqva iaaspatlag atavsewtey ktadgktyyy
      421 nnrtlestwe kpqelkekek leekikepik epseeplpme teeedpkeep ikeikeepke
      481 eemteeekaa qkakpvatap ipgtpwcvvw tgdervffyn pttrlsmwdr pddligradv
      541 dkiiqepphk kgmeelkklr hptptmlsiq kwqfsmsaik eeqelmeein edepvkakkr
      601 krddnkdids ekeaameaei kaareraivp learmkqfkd mllergvsaf stwekelhki
      661 vfdpryllln pkerkqvfdq yvktraeeer rekknkimqa kedfkkmmee akfnpratfs
      721 efaakhakds rfkaiekmkd realfnefva aarkkekeds ktrgekiksd ffellsnhhl
      781 dsqsrwskvk dkvesdpryk avdsssmred lfkqyiekia knldsekeke lerqarieas
      841 lrererevqk arseqtkeid rereqhkree aiqnfkalls dmvrssdvsw sdtrrtlrkd
      901 hrwesgslle reekeklfne hiealtkkkr ehfrqlldet saitltstwk evkkiikedp
      961 rcikfsssdr kkqrefeeyi rdkyitakad frtllketkf ityrskkliq esdqhlkdve
     1021 kilqndkryl vldcvpeerr klivayvddl drrgpppppt aseptrrstk
//
LOCUS       NP_001400798             724 aa            linear   PRI 01-JAN-2023
DEFINITION  aspartyl/asparaginyl beta-hydroxylase isoform 29 [Homo sapiens].
ACCESSION   NP_001400798
VERSION     NP_001400798.1
DBSOURCE    REFSEQ: accession NM_001413869.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 724)
  AUTHORS   Jones G, Johnson K, Eason J, Hamilton M, Osio D, Kanani F, Baptista
            J and Suri M.
  TITLE     Traboulsi syndrome caused by mutations in ASPH: An autosomal
            recessive disorder with overlapping features of Marfan syndrome
  JOURNAL   Eur J Med Genet 65 (10), 104572 (2022)
   PUBMED   35918038
  REMARK    GeneRIF: Traboulsi syndrome caused by mutations in ASPH: An
            autosomal recessive disorder with overlapping features of Marfan
            syndrome.
REFERENCE   2  (residues 1 to 724)
  AUTHORS   Zhu H, Liu H, Wen J, Yuan T, Ren G, Jiang Y, Yuan Y, Mei J, Yu Y
            and Li G.
  TITLE     Overexpression of Human Aspartyl (Asparaginyl) beta-hydroxylase in
            NSCLC: Its Diagnostic Value by Means of Exosomes of Bronchoalveolar
            Lavage
  JOURNAL   Appl Immunohistochem Mol Morphol 29 (10), 720-727 (2021)
   PUBMED   34433181
  REMARK    GeneRIF: Overexpression of Human Aspartyl (Asparaginyl)
            beta-hydroxylase in NSCLC: Its Diagnostic Value by Means of
            Exosomes of Bronchoalveolar Lavage.
REFERENCE   3  (residues 1 to 724)
  AUTHORS   Finotti A, Treves S, Zorzato F, Gambari R and Feriotto G.
  TITLE     Upstream stimulatory factors are involved in the P1 promoter
            directed transcription of the A beta H-J-J locus
  JOURNAL   BMC Mol Biol 9, 110 (2008)
   PUBMED   19087304
  REMARK    GeneRIF: USF1 and USF2 positively regulate the core of P1 promoter
            od AAH.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 724)
  AUTHORS   Treves S, Franzini-Armstrong C, Moccagatta L, Arnoult C, Grasso C,
            Schrum A, Ducreux S, Zhu MX, Mikoshiba K, Girard T, Smida-Rezgui S,
            Ronjat M and Zorzato F.
  TITLE     Junctate is a key element in calcium entry induced by activation of
            InsP3 receptors and/or calcium store depletion
  JOURNAL   J Cell Biol 166 (4), 537-548 (2004)
   PUBMED   15302852
  REMARK    GeneRIF: junctate has a role in calcium homeostasis in eukaryotic
            cells
REFERENCE   5  (residues 1 to 724)
  AUTHORS   Treves S, Feriotto G, Moccagatta L, Gambari R and Zorzato F.
  TITLE     Molecular cloning, expression, functional characterization,
            chromosomal localization, and gene structure of junctate, a novel
            integral calcium binding protein of sarco(endo)plasmic reticulum
            membrane
  JOURNAL   J Biol Chem 275 (50), 39555-39568 (2000)
   PUBMED   11007777
REFERENCE   6  (residues 1 to 724)
  AUTHORS   Dinchuk JE, Henderson NL, Burn TC, Huber R, Ho SP, Link J, O'Neil
            KT, Focht RJ, Scully MS, Hollis JM, Hollis GF and Friedman PA.
  TITLE     Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved
            isoform of Asph missing the catalytic domain share exons with
            junctin
  JOURNAL   J Biol Chem 275 (50), 39543-39554 (2000)
   PUBMED   10956665
REFERENCE   7  (residues 1 to 724)
  AUTHORS   Wetzel GT, Ding S and Chen F.
  TITLE     Molecular cloning of junctin from human and developing rabbit heart
  JOURNAL   Mol Genet Metab 69 (3), 252-258 (2000)
   PUBMED   10767180
REFERENCE   8  (residues 1 to 724)
  AUTHORS   Zhang L, Kelley J, Schmeisser G, Kobayashi YM and Jones LR.
  TITLE     Complex formation between junctin, triadin, calsequestrin, and the
            ryanodine receptor. Proteins of the cardiac junctional sarcoplasmic
            reticulum membrane
  JOURNAL   J Biol Chem 272 (37), 23389-23397 (1997)
   PUBMED   9287354
REFERENCE   9  (residues 1 to 724)
  AUTHORS   Lavaissiere L, Jia S, Nishiyama M, de la Monte S, Stern AM, Wands
            JR and Friedman PA.
  TITLE     Overexpression of human aspartyl(asparaginyl)beta-hydroxylase in
            hepatocellular carcinoma and cholangiocarcinoma
  JOURNAL   J Clin Invest 98 (6), 1313-1323 (1996)
   PUBMED   8823296
REFERENCE   10 (residues 1 to 724)
  AUTHORS   Korioth F, Gieffers C and Frey J.
  TITLE     Cloning and characterization of the human gene encoding aspartyl
            beta-hydroxylase
  JOURNAL   Gene 150 (2), 395-399 (1994)
   PUBMED   7821814
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067881.5 and AC090094.5.
            
            Summary: This gene is thought to play an important role in calcium
            homeostasis. The gene is expressed from two promoters and undergoes
            extensive alternative splicing. The encoded set of proteins share
            varying amounts of overlap near their N-termini but have
            substantial variations in their C-terminal domains resulting in
            distinct functional properties. The longest isoforms (a and f)
            include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain
            that hydroxylates aspartic acid or asparagine residues in the
            epidermal growth factor (EGF)-like domains of some proteins,
            including protein C, coagulation factors VII, IX, and X, and the
            complement factors C1R and C1S. Other isoforms differ primarily in
            the C-terminal sequence and lack the hydroxylase domain, and some
            have been localized to the endoplasmic and sarcoplasmic reticulum.
            Some of these isoforms are found in complexes with calsequestrin,
            triadin, and the ryanodine receptor, and have been shown to
            regulate calcium release from the sarcoplasmic reticulum. Some
            isoforms have been implicated in metastasis. [provided by RefSeq,
            Sep 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3762616.1,
                                           SRR14038196.3632956.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..724
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.3"
     Protein         1..724
                     /product="aspartyl/asparaginyl beta-hydroxylase isoform
                     29"
                     /EC_number="1.14.11.16"
                     /note="junctate; peptide-aspartate beta-dioxygenase;
                     humbug; aspartyl/asparaginyl beta-hydroxylase; cardiac
                     junctin; A beta H-J-J; ASP beta-hydroxylase"
                     /calculated_mol_wt=81797
     Region          43..108
                     /region_name="Asp-B-Hydro_N"
                     /note="Aspartyl beta-hydroxylase N-terminal region;
                     pfam05279"
                     /db_xref="CDD:428406"
     Region          307..335
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          308..421
                     /region_name="tol_pal_ybgF"
                     /note="tol-pal system protein YbgF; TIGR02795"
                     /db_xref="CDD:188247"
     Region          <331..519
                     /region_name="YfgC"
                     /note="Putative Zn-dependent protease, contains TPR
                     repeats [General function prediction only]; COG4783"
                     /db_xref="CDD:227122"
     Region          340..374
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(424..425,428..429,431,455,458..459,462..463,
                     465..466,492,495..496,499..500,503)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          424..448
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          453..483
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          491..514
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          557..711
                     /region_name="Asp_Arg_Hydrox"
                     /note="Aspartyl/Asparaginyl beta-hydroxylase; pfam05118"
                     /db_xref="CDD:428316"
     CDS             1..724
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /coded_by="NM_001413869.1:222..2396"
                     /note="isoform 29 is encoded by transcript variant 38"
                     /db_xref="GeneID:444"
                     /db_xref="HGNC:HGNC:757"
                     /db_xref="MIM:600582"
ORIGIN      
        1 maqrknakss gnssssgsgs gstsagsssp garretkhgg hkngrkggls gtsfftwfmv
       61 iallgvwtsv avvwfdlvdy eevlgklgiy dadgdgdfdv ddakvllglk erstsepavp
      121 peeaephtep eeqvpveaep qniedeakeq iqsllhemvh aehvegedlq qedgptgepq
      181 qeddeflmat dvddrfetle pevsheeteh syhveetdss epvvederlh hdtddvtyqv
      241 yeeqavyepl enegieitev tappednpve dsqviveetn rktddpeqka kvkkkkpkll
      301 nkfdktikae ldaaeklrkr gkieeavnaf kelvrkypqs prarygkaqc eddlaekrrs
      361 nevlrgaiet yqevaslpdv padllklslk rrsdrqqflg hmrgslltlq rlvqlfpndt
      421 slkndlgvgy lligdndnak kvyeevlsvt pndgfakvhy gfilkaqnki aesipylkeg
      481 iesgdpgtdd grfyfhlgda mqrvgnkeay kwyelghkrg hfasvwqrsl ynvnglkaqp
      541 wwtpketgyt elvkslernw klirdeglav mdkakglflp edenlrekgd wsqftlwqqg
      601 rrnenackga pktctllekf pettgcrrgq ikysimhpgt hvwphtgptn crlrmhlglv
      661 ipkegckirc anetktweeg kvlifddsfe hevwqdassf rlifivdvwh peltpqqrrs
      721 lpai
//
LOCUS       NP_001269736             666 aa            linear   PRI 22-JAN-2023
DEFINITION  E3 ubiquitin-protein ligase MARCHF7 isoform c [Homo sapiens].
ACCESSION   NP_001269736 XP_005246832
VERSION     NP_001269736.1
DBSOURCE    REFSEQ: accession NM_001282807.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 666)
  AUTHORS   Singh S, Bano A, Saraya A, Das P and Sharma R.
  TITLE     Association of MARCH7 with tumor progression and T-cell
            infiltration in esophageal cancer
  JOURNAL   Med Oncol 40 (1), 67 (2022)
   PUBMED   36583798
  REMARK    GeneRIF: Association of MARCH7 with tumor progression and T-cell
            infiltration in esophageal cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 666)
  AUTHORS   Mahajan S, Sharma GK, Bora K and Pattnaik B.
  TITLE     Identification of novel interactions between host and
            non-structural protein 2C of foot-and-mouth disease virus
  JOURNAL   J Gen Virol 102 (3) (2021)
   PUBMED   33729124
  REMARK    GeneRIF: Identification of novel interactions between host and
            non-structural protein 2C of foot-and-mouth disease virus.
REFERENCE   3  (residues 1 to 666)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 666)
  AUTHORS   Liu L, Hu J, Yu T, You S, Zhang Y and Hu L.
  TITLE     miR-27b-3p/MARCH7 regulates invasion and metastasis of endometrial
            cancer cells through Snail-mediated pathway
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 51 (5), 492-500 (2019)
   PUBMED   31006800
  REMARK    GeneRIF: Data show that miR-27b-3p inhibited ubiquitin E3 ligase
            membrane-associated RING-CH-type finger 7 (MARCH7) in endometrial
            cancer (EC) cells and MARCH7 promoted cell invasion through snail
            transcription factors (Snail)-mediated pathway.
REFERENCE   5  (residues 1 to 666)
  AUTHORS   Hu J, Zhang L, Mei Z, Jiang Y, Yi Y, Liu L, Meng Y, Zhou L, Zeng J,
            Wu H and Jiang X.
  TITLE     Interaction of E3 Ubiquitin Ligase MARCH7 with Long Noncoding RNA
            MALAT1 and Autophagy-Related Protein ATG7 Promotes Autophagy and
            Invasion in Ovarian Cancer
  JOURNAL   Cell Physiol Biochem 47 (2), 654-666 (2018)
   PUBMED   29794480
  REMARK    GeneRIF: MARCH7 may function as a competing endogenous RNA (ceRNA)
            to regulate the expression of ATG7 by competing with miR-200a.
            MARCH7 silencing inhibited autophagy invasion and metastasis of
            SKOV3 cells both in vitro and in vivo.
REFERENCE   6  (residues 1 to 666)
  AUTHORS   Muthukumarana PA, Lyons GE, Miura Y, Thompson LH, Watson T, Green
            CJ, Shurey S, Hess AD, Rosengard BR and Metcalfe SM.
  TITLE     Evidence for functional inter-relationships between FOXP3,
            leukaemia inhibitory factor, and axotrophin/MARCH-7 in
            transplantation tolerance
  JOURNAL   Int Immunopharmacol 6 (13-14), 1993-2001 (2006)
   PUBMED   17161353
  REMARK    GeneRIF: Data suggest that clinical auto-graft versus host disease
            inversely correlates with axotrophin transcript expression.
REFERENCE   7  (residues 1 to 666)
  AUTHORS   Flierman D, Coleman CS, Pickart CM, Rapoport TA and Chau V.
  TITLE     E2-25K mediates US11-triggered retro-translocation of MHC class I
            heavy chains in a permeabilized cell system
  JOURNAL   Proc Natl Acad Sci U S A 103 (31), 11589-11594 (2006)
   PUBMED   16868077
REFERENCE   8  (residues 1 to 666)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   9  (residues 1 to 666)
  AUTHORS   Metcalfe SM, Muthukumarana PA, Thompson HL, Haendel MA and Lyons
            GE.
  TITLE     Leukaemia inhibitory factor (LIF) is functionally linked to
            axotrophin and both LIF and axotrophin are linked to regulatory
            immune tolerance
  JOURNAL   FEBS Lett 579 (3), 609-614 (2005)
   PUBMED   15670816
REFERENCE   10 (residues 1 to 666)
  AUTHORS   Bartee E, Mansouri M, Hovey Nerenberg BT, Gouveia K and Fruh K.
  TITLE     Downregulation of major histocompatibility complex class I by human
            ubiquitin ligases related to viral immune evasion proteins
  JOURNAL   J Virol 78 (3), 1109-1120 (2004)
   PUBMED   14722266
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK316382.1, AK302347.1, BC003404.1, AI863394.1 and AC009961.11.
            On Sep 19, 2013 this sequence version replaced XP_005246832.1.
            
            Summary: MARCH7 is a member of the MARCH family of membrane-bound
            E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin
            (see MIM 191339) to target lysines in substrate proteins, thereby
            signaling their vesicular transport between membrane compartments
            (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Mar
            2010].
            
            Transcript Variant: This variant (4) contains alternate 5' exon
            structure and it thus differs in the 5' UTR and 5' coding region,
            compared to variant 1. The encoded isoform (c) has a distinct
            N-terminus and is shorter than isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302347.1, AK316382.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..666
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.2"
     Protein         1..666
                     /product="E3 ubiquitin-protein ligase MARCHF7 isoform c"
                     /EC_number="2.3.2.27"
                     /note="axotrophin; membrane-associated RING-CH protein
                     VII; E3 ubiquitin-protein ligase MARCH7; RING finger
                     protein 177; membrane associated ring finger 7;
                     membrane-associated RING finger protein 7;
                     membrane-associated ring finger (C3HC4) 7, E3 ubiquitin
                     protein ligase; RING-type E3 ubiquitin transferase MARCH7;
                     RING-type E3 ubiquitin transferase MARCHF7; E3
                     ubiquitin-protein ligase MARCHF7"
                     /calculated_mol_wt=73648
     Region          514..572
                     /region_name="RING_CH-C4HC3_MARCH7"
                     /note="RING-CH finger, H2 subclass (C4HC3-type), found in
                     membrane-associated RING-CH7 (MARCH7); cd16812"
                     /db_xref="CDD:438461"
     CDS             1..666
                     /gene="MARCHF7"
                     /gene_synonym="AXO; AXOT; MARCH-VII; MARCH7; RNF177"
                     /coded_by="NM_001282807.2:81..2081"
                     /note="isoform c is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS63039.1"
                     /db_xref="GeneID:64844"
                     /db_xref="HGNC:HGNC:17393"
                     /db_xref="MIM:613334"
ORIGIN      
        1 mignydhlms lvtstsasas aspfqsawys eseitqgars rsqnqqrdhd skrpklsctn
       61 cttsagrnvg nglntlsdss wrhsqvprss smvlgsfgtd lmrerrdler rtdssisnlm
      121 dyshrsgdft tssyvqdrvp sysqgarpke nsmstlqlnt sstnhqlpse hqtilssrds
      181 rnslrsnfss resessrsnt qpgfsysssr deapiisnse rvvssqrpfq essdnegrrt
      241 trrllsrias smsstffsrr ssqdslntrs lnsensyvsp riltasqsrs nvpsasevpd
      301 nraseasqgf rflrrrwgls slshnhsses dsenfnqese grntgpwlss slrnrctplf
      361 srrrregrde ssriptsdts srshifrres nevvhleaqn dplgaaanrp qasaasssat
      421 tggstsdsaq ggrntgisgi lpgslfrfav ppalgsnltd nvmitvdiip sgwnsadgks
      481 dktksapsrd perlqkikes llledseeee gdlcricqma aasssnllie pckctgslqy
      541 vhqdcmkkwl qakinsgssl eavttcelck eklelnledf dihelhraha neqaeyefis
      601 sglylvvllh lceqsfsdmm gntnepstrv rfinlartlq ahmedletse ddseedgdhn
      661 rtfdia
//
LOCUS       NP_036376                535 aa            linear   PRI 22-JAN-2023
DEFINITION  large neutral amino acids transporter small subunit 2 isoform a
            [Homo sapiens].
ACCESSION   NP_036376
VERSION     NP_036376.2
DBSOURCE    REFSEQ: accession NM_012244.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 535)
  AUTHORS   Meng F, Wang L, Gao G, Chen J, Wang X, Wu G and Miu Y.
  TITLE     Identification and verification of microRNA signature and key genes
            in the development of osteosarcoma with lung metastasis
  JOURNAL   Medicine (Baltimore) 101 (49), e32258 (2022)
   PUBMED   36626488
  REMARK    GeneRIF: Identification and verification of microRNA signature and
            key genes in the development of osteosarcoma with lung metastasis.
REFERENCE   2  (residues 1 to 535)
  AUTHORS   Min Q, Wang Y, Wu Q, Li X, Teng H, Fan J, Cao Y, Fan P and Zhan Q.
  TITLE     Genomic and epigenomic evolution of acquired resistance to
            combination therapy in esophageal squamous cell carcinoma
  JOURNAL   JCI Insight 6 (17), e150203 (2021)
   PUBMED   34494553
  REMARK    GeneRIF: Genomic and epigenomic evolution of acquired resistance to
            combination therapy in esophageal squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 535)
  AUTHORS   Zaugg J, Huang X, Ziegler F, Rubin M, Graff J, Muller J,
            Moser-Hassig R, Powell T, Gertsch J, Altmann KH and Albrecht C.
  TITLE     Small molecule inhibitors provide insights into the relevance of
            LAT1 and LAT2 in materno-foetal amino acid transport
  JOURNAL   J Cell Mol Med 24 (21), 12681-12693 (2020)
   PUBMED   33001560
  REMARK    GeneRIF: Small molecule inhibitors provide insights into the
            relevance of LAT1 and LAT2 in materno-foetal amino acid transport.
REFERENCE   4  (residues 1 to 535)
  AUTHORS   Kantipudi S, Jeckelmann JM, Ucurum Z, Bosshart PD and Fotiadis D.
  TITLE     The Heavy Chain 4F2hc Modulates the Substrate Affinity and
            Specificity of the Light Chains LAT1 and LAT2
  JOURNAL   Int J Mol Sci 21 (20), 7573 (2020)
   PUBMED   33066406
  REMARK    GeneRIF: The Heavy Chain 4F2hc Modulates the Substrate Affinity and
            Specificity of the Light Chains LAT1 and LAT2.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 535)
  AUTHORS   Jeckelmann JM and Fotiadis D.
  TITLE     Sub-Nanometer Cryo-EM Density Map of the Human Heterodimeric Amino
            Acid Transporter 4F2hc-LAT2
  JOURNAL   Int J Mol Sci 21 (19), 7094 (2020)
   PUBMED   32993041
  REMARK    GeneRIF: Sub-Nanometer Cryo-EM Density Map of the Human
            Heterodimeric Amino Acid Transporter 4F2hc-LAT2.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 535)
  AUTHORS   Broer A, Friedrich B, Wagner CA, Fillon S, Ganapathy V, Lang F and
            Broer S.
  TITLE     Association of 4F2hc with light chains LAT1, LAT2 or y+LAT2
            requires different domains
  JOURNAL   Biochem J 355 (Pt 3), 725-731 (2001)
   PUBMED   11311135
REFERENCE   7  (residues 1 to 535)
  AUTHORS   Rossier G, Meier C, Bauch C, Summa V, Sordat B, Verrey F and Kuhn
            LC.
  TITLE     LAT2, a new basolateral 4F2hc/CD98-associated amino acid
            transporter of kidney and intestine
  JOURNAL   J Biol Chem 274 (49), 34948-34954 (1999)
   PUBMED   10574970
REFERENCE   8  (residues 1 to 535)
  AUTHORS   Bassi MT, Sperandeo MP, Incerti B, Bulfone A, Pepe A, Surace EM,
            Gattuso C, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Andria
            G, Ballabio A, Borsani G and Sebastio G.
  TITLE     SLC7A8, a gene mapping within the lysinuric protein intolerance
            critical region, encodes a new member of the
            glycoprotein-associated amino acid transporter family
  JOURNAL   Genomics 62 (2), 297-303 (1999)
   PUBMED   10610726
REFERENCE   9  (residues 1 to 535)
  AUTHORS   Pineda M, Fernandez E, Torrents D, Estevez R, Lopez C, Camps M,
            Lloberas J, Zorzano A and Palacin M.
  TITLE     Identification of a membrane protein, LAT-2, that Co-expresses with
            4F2 heavy chain, an L-type amino acid transport activity with broad
            specificity for small and large zwitterionic amino acids
  JOURNAL   J Biol Chem 274 (28), 19738-19744 (1999)
   PUBMED   10391915
REFERENCE   10 (residues 1 to 535)
  AUTHORS   Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A,
            Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A and
            Sebastio G.
  TITLE     SLC7A7, encoding a putative permease-related protein, is mutated in
            patients with lysinuric protein intolerance
  JOURNAL   Nat Genet 21 (3), 297-301 (1999)
   PUBMED   10080183
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK223610.1, AL365343.2, AK313465.1, BX248288.1, AB037669.1 and
            AF135830.1.
            On Jul 28, 2003 this sequence version replaced NP_036376.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Y18483.1, AK223610.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000316902.12/ ENSP00000320378.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..535
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     Protein         1..535
                     /product="large neutral amino acids transporter small
                     subunit 2 isoform a"
                     /note="solute carrier family 7 (amino acid transporter,
                     L-type), member 8; solute carrier family 7 (cationic amino
                     acid transporter, y+ system), member 8; large neutral
                     amino acids transporter small subunit 2; integral membrane
                     protein E16H; L-type amino acid transporter 2; solute
                     carrier family 7 (amino acid transporter light chain, L
                     system), member 8"
                     /calculated_mol_wt=58251
     Region          1..497
                     /region_name="2A0308"
                     /note="L-type amino acid transporter; TIGR00911"
                     /db_xref="CDD:273332"
     Region          1..30
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHI5.1)"
     Site            29
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QXW9; propagated from
                     UniProtKB/Swiss-Prot (Q9UHI5.1)"
     Site            40..60
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHI5.1)"
     Site            72..92
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHI5.1)"
     Site            113..133
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHI5.1)"
     Site            155..175
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHI5.1)"
     Site            189..209
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHI5.1)"
     Site            231..251
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHI5.1)"
     Site            268..288
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHI5.1)"
     Site            310..330
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHI5.1)"
     Site            362..382
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHI5.1)"
     Site            388..408
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHI5.1)"
     Site            424..444
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHI5.1)"
     Site            447..467
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHI5.1)"
     Region          502..535
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHI5.1)"
     CDS             1..535
                     /gene="SLC7A8"
                     /gene_synonym="LAT2; LPI-PC1"
                     /coded_by="NM_012244.4:747..2354"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9590.1"
                     /db_xref="GeneID:23428"
                     /db_xref="HGNC:HGNC:11066"
                     /db_xref="MIM:604235"
ORIGIN      
        1 meegarhrnn tekkhpggge sdaspeagsg gggvalkkei glvsacgiiv gniigsgifv
       61 spkgvlenag svglalivwi vtgfitvvga lcyaelgvti pksggdysyv kdifgglagf
      121 lrlwiavlvi yptnqavial tfsnyvlqpl fptcfppesg lrllaaicll lltwvncssv
      181 rwatrvqdif tagkllalal iiimgivqic kgeyfwlepk nafenfqepd iglvalaflq
      241 gsfayggwnf lnyvteelvd pyknlpraif isiplvtfvy vfanvayvta mspqellasn
      301 avavtfgekl lgvmawimpi svalstfggv ngslftssrl ffagareghl psvlamihvk
      361 rctpipallf tcistllmlv tsdmytliny vgfinylfyg vtvagqivlr wkkpdiprpi
      421 kinllfpiiy llfwafllvf slwsepvvcg iglaimltgv pvyflgvywq hkpkcfsdfi
      481 elltlvsqkm cvvvypever gsgteeaned meeqqqpmyq ptptkdkdva gqpqp
//
LOCUS       NP_001298127             460 aa            linear   PRI 22-JAN-2023
DEFINITION  AP-2 complex subunit mu isoform c [Homo sapiens].
ACCESSION   NP_001298127
VERSION     NP_001298127.1
DBSOURCE    REFSEQ: accession NM_001311198.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 460)
  AUTHORS   Liu X, Zhao X, Yang J, Wang H, Piao Y and Wang L.
  TITLE     High expression of AP2M1 correlates with worse prognosis by
            regulating immune microenvironment and drug resistance to R-CHOP in
            diffuse large B cell lymphoma
  JOURNAL   Eur J Haematol 110 (2), 198-208 (2023)
   PUBMED   36335584
  REMARK    GeneRIF: High expression of AP2M1 correlates with worse prognosis
            by regulating immune microenvironment and drug resistance to R-CHOP
            in diffuse large B cell lymphoma.
REFERENCE   2  (residues 1 to 460)
  AUTHORS   Ganapathy AS, Saha K, Suchanec E, Singh V, Verma A, Yochum G,
            Koltun W, Nighot M, Ma T and Nighot P.
  TITLE     AP2M1 mediates autophagy-induced CLDN2 (claudin 2) degradation
            through endocytosis and interaction with LC3 and reduces intestinal
            epithelial tight junction permeability
  JOURNAL   Autophagy 18 (9), 2086-2103 (2022)
   PUBMED   34964704
  REMARK    GeneRIF: AP2M1 mediates autophagy-induced CLDN2 (claudin 2)
            degradation through endocytosis and interaction with LC3 and
            reduces intestinal epithelial tight junction permeability.
REFERENCE   3  (residues 1 to 460)
  AUTHORS   Salokas K, Liu X, Ohman T, Chowdhury I, Gawriyski L, Keskitalo S
            and Varjosalo M.
  TITLE     Physical and functional interactome atlas of human receptor
            tyrosine kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   4  (residues 1 to 460)
  AUTHORS   Kruse T, Benz C, Garvanska DH, Lindqvist R, Mihalic F, Coscia F,
            Inturi R, Sayadi A, Simonetti L, Nilsson E, Ali M, Kliche J,
            Moliner Morro A, Mund A, Andersson E, McInerney G, Mann M, Jemth P,
            Davey NE, Overby AK, Nilsson J and Ivarsson Y.
  TITLE     Large scale discovery of coronavirus-host factor protein
            interaction motifs reveals SARS-CoV-2 specific mechanisms and
            vulnerabilities
  JOURNAL   Nat Commun 12 (1), 6761 (2021)
   PUBMED   34799561
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 460)
  AUTHORS   Kliche J, Kuss H, Ali M and Ivarsson Y.
  TITLE     Cytoplasmic short linear motifs in ACE2 and integrin beta3 link
            SARS-CoV-2 host cell receptors to mediators of endocytosis and
            autophagy
  JOURNAL   Sci Signal 14 (665) (2021)
   PUBMED   33436498
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 460)
  AUTHORS   Ohno H, Stewart J, Fournier MC, Bosshart H, Rhee I, Miyatake S,
            Saito T, Gallusser A, Kirchhausen T and Bonifacino JS.
  TITLE     Interaction of tyrosine-based sorting signals with
            clathrin-associated proteins
  JOURNAL   Science 269 (5232), 1872-1875 (1995)
   PUBMED   7569928
REFERENCE   7  (residues 1 to 460)
  AUTHORS   Liu Q, Feng Y and Forgac M.
  TITLE     Activity and in vitro reassembly of the coated vesicle (H+)-ATPase
            requires the 50-kDa subunit of the clathrin assembly complex AP-2
  JOURNAL   J Biol Chem 269 (50), 31592-31597 (1994)
   PUBMED   7989329
REFERENCE   8  (residues 1 to 460)
  AUTHORS   Pauloin A and Thurieau C.
  TITLE     The 50 kDa protein subunit of assembly polypeptide (AP) AP-2
            adaptor from clathrin-coated vesicles is phosphorylated on
            threonine-156 by AP-1 and a soluble AP50 kinase which co-purifies
            with the assembly polypeptides
  JOURNAL   Biochem J 296 (Pt 2) (Pt 2), 409-415 (1993)
   PUBMED   8257432
REFERENCE   9  (residues 1 to 460)
  AUTHORS   Chang MP, Mallet WG, Mostov KE and Brodsky FM.
  TITLE     Adaptor self-aggregation, adaptor-receptor recognition and binding
            of alpha-adaptin subunits to the plasma membrane contribute to
            recruitment of adaptor (AP2) components of clathrin-coated pits
  JOURNAL   EMBO J 12 (5), 2169-2180 (1993)
   PUBMED   8491205
REFERENCE   10 (residues 1 to 460)
  AUTHORS   Garcia JV and Miller AD.
  TITLE     Serine phosphorylation-independent downregulation of cell-surface
            CD4 by nef
  JOURNAL   Nature 350 (6318), 508-511 (1991)
   PUBMED   2014052
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK297849.1 and BC004996.1.
            
            Summary: This gene encodes a subunit of the heterotetrameric coat
            assembly protein complex 2 (AP2), which belongs to the adaptor
            complexes medium subunits family. The encoded protein is required
            for the activity of a vacuolar ATPase, which is responsible for
            proton pumping occurring in the acidification of endosomes and
            lysosomes. The encoded protein may also play an important role in
            regulating the intracellular trafficking and function of CTLA-4
            protein. Three transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Jul 2015].
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (c).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK297849.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..460
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.1"
     Protein         1..460
                     /product="AP-2 complex subunit mu isoform c"
                     /note="clathrin-associated/assembly/adaptor protein,
                     medium 1; plasma membrane adaptor AP-2 50kDA protein;
                     clathrin coat adaptor protein AP50; clathrin adaptor
                     complex AP2, mu subunit; HA2 50 kDA subunit; clathrin
                     assembly protein complex 2 medium chain; AP-2 mu 2 chain;
                     AP-2 complex subunit mu; adaptin-mu2; clathrin coat
                     assembly protein AP50; clathrin coat-associated protein
                     AP50; adaptor protein complex AP-2 subunit mu; plasma
                     membrane adaptor AP-2 50 kDa protein; clathrin assembly
                     protein complex 2 mu medium chain; adaptor-related protein
                     complex 2 subunit mu; adaptor related protein complex 2 mu
                     1 subunit"
                     /calculated_mol_wt=52173
     Region          1..165
                     /region_name="AP2_Mu_N"
                     /note="AP-2 complex subunit mu N-terminal domain; cd14836"
                     /db_xref="CDD:341440"
     Site            order(1,18..19,21..22,70..74,77,79,81,83,85,96..102,
                     104..106,108..109,130,134..135,138..139,142..143,145..148,
                     150,156..157,159..161)
                     /site_type="other"
                     /note="AP2 beta interface [polypeptide binding]"
                     /db_xref="CDD:341440"
     Region          193..459
                     /region_name="AP-2_Mu2_Cterm"
                     /note="C-terminal domain of medium Mu2 subunit in
                     ubiquitously expressed clathrin-associated adaptor protein
                     (AP) complex AP-2; cd09251"
                     /db_xref="CDD:271159"
     Site            order(199..201,228,343,416,418,426..427,445..448,450)
                     /site_type="signal peptide"
                     /note="signal peptide binding site [polypeptide binding]"
                     /db_xref="CDD:271159"
     Site            order(217..218,270..275,279..280,301,303,407,409,455,457)
                     /site_type="other"
                     /note="AP-2 beta subunit interface [polypeptide binding]"
                     /db_xref="CDD:271159"
     CDS             1..460
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /coded_by="NM_001311198.2:149..1531"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS82880.1"
                     /db_xref="GeneID:1173"
                     /db_xref="HGNC:HGNC:564"
                     /db_xref="MIM:601024"
ORIGIN      
        1 migglfiynh kgevlisrvy rddigsrqaa dsavfsssgp fpgewleanr rnavdafrvn
       61 viharqqvrs pvtniartsf fhvkrsniwl aavtkqnvna amvfeflykm cdvmaayfgk
      121 iseeniknnf vliyelldei ldfgypqnse tgalktfitq qgiksqhqtk eeqsqitsqv
      181 tgqigwrreg ikyrrnelfl dvlesvnllm spqgqvlsah vsgrvvmksy lsgmpeckfg
      241 mndkiviekq gkgtadetsk sgkqsiaidd ctfhqcvrls kfdsersisf ippdgefelm
      301 ryrttkdiil pfrviplvre vgrtklevkv viksnfkpsl laqkievrip tplntsgvqv
      361 icmkgkakyk asenaivwki krmagmkesq isaeiellpt ndkkkwarpp ismnfevpfa
      421 psglkvrylk vfepklnysd hdvikwvryi grsgiyetrc
//
LOCUS       NP_060239                706 aa            linear   PRI 22-JAN-2023
DEFINITION  G2/M phase-specific E3 ubiquitin-protein ligase isoform 1 [Homo
            sapiens].
ACCESSION   NP_060239
VERSION     NP_060239.2
DBSOURCE    REFSEQ: accession NM_017769.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 706)
  AUTHORS   Shen Y, Xue J, Yu J, Jiang Y, Bu J, Zhu T, Gu X and Zhu X.
  TITLE     Comprehensive analysis of the expression, prognostic significance,
            and regulation pathway of G2E3 in breast cancer
  JOURNAL   World J Surg Oncol 20 (1), 398 (2022)
   PUBMED   36517818
  REMARK    GeneRIF: Comprehensive analysis of the expression, prognostic
            significance, and regulation pathway of G2E3 in breast cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 706)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 706)
  AUTHORS   Schmidt F, Kunze M, Loock AC and Dobbelstein M.
  TITLE     Screening analysis of ubiquitin ligases reveals G2E3 as a potential
            target for chemosensitizing cancer cells
  JOURNAL   Oncotarget 6 (2), 617-632 (2015)
   PUBMED   25593194
  REMARK    GeneRIF: Results suggest that G2E3 is a molecular determinant of
            the DDR and cell survival.
REFERENCE   4  (residues 1 to 706)
  AUTHORS   Brooks WS, Helton ES, Banerjee S, Venable M, Johnson L, Schoeb TR,
            Kesterson RA and Crawford DF.
  TITLE     G2E3 is a dual function ubiquitin ligase required for early
            embryonic development
  JOURNAL   J Biol Chem 283 (32), 22304-22315 (2008)
   PUBMED   18511420
REFERENCE   5  (residues 1 to 706)
  AUTHORS   Brooks WS, Banerjee S and Crawford DF.
  TITLE     G2E3 is a nucleo-cytoplasmic shuttling protein with DNA damage
            responsive localization
  JOURNAL   Exp Cell Res 313 (4), 665-676 (2007)
   PUBMED   17239372
  REMARK    GeneRIF: Cell cycle phase-specific expression and highly regulated
            subcellular localization of G2E3 suggest a possible role in cell
            cycle regulation and the cellular response to DNA damage.
REFERENCE   6  (residues 1 to 706)
  AUTHORS   Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD and
            Sanderson CM.
  TITLE     Analysis of a high-throughput yeast two-hybrid system and its use
            to predict the function of intracellular proteins encoded within
            the human MHC class III region
  JOURNAL   Genomics 83 (1), 153-167 (2004)
   PUBMED   14667819
REFERENCE   7  (residues 1 to 706)
  AUTHORS   Crawford DF and Piwnica-Worms H.
  TITLE     The G(2) DNA damage checkpoint delays expression of genes encoding
            mitotic regulators
  JOURNAL   J Biol Chem 276 (40), 37166-37177 (2001)
   PUBMED   11483598
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA491192.1, AB037754.1, AI432917.1 and BM993069.1.
            On Aug 13, 2003 this sequence version replaced NP_060239.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK000340.1, SRR1660805.82939.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000206595.11/ ENSP00000206595.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..706
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     Protein         1..706
                     /product="G2/M phase-specific E3 ubiquitin-protein ligase
                     isoform 1"
                     /EC_number="2.3.2.26"
                     /note="G2/M-phase specific E3 ubiquitin ligase; PHD finger
                     protein 7B; G2/M phase-specific HECT-type E3 ubiquitin
                     transferase"
                     /calculated_mol_wt=80374
     Region          14..127
                     /region_name="ePHD_PHF7_G2E3_like"
                     /note="Extended PHD finger found in PHD finger protein 7
                     (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase
                     (G2E3); cd15669"
                     /db_xref="CDD:277139"
     Site            order(80,89..93,99,122)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277139"
     Region          232..285
                     /region_name="PHD_PHF7_G2E3_like"
                     /note="PHD finger found in PHD finger protein 7 (PHF7) and
                     G2/M phase-specific E3 ubiquitin-protein ligase (G2E3);
                     cd15496"
                     /db_xref="CDD:276971"
     Site            order(232,254..258,262,280)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:276971"
     Site            order(368,397,411,464,635,660..661,664..668,688)
                     /site_type="active"
                     /note="catalytic cleft [active]"
                     /db_xref="CDD:238033"
     Region          411..692
                     /region_name="HECTc"
                     /note="HECT domain; C-terminal catalytic domain of a
                     subclass of Ubiquitin-protein ligase (E3). It binds
                     specific ubiquitin-conjugating enzymes (E2), accepts
                     ubiquitin from E2, transfers ubiquitin to substrate lysine
                     side chains, and transfers additional...; cl27008"
                     /db_xref="CDD:452702"
     Site            order(506,509..510,512..513,518,525,527,531..532,534,540)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..706
                     /gene="G2E3"
                     /gene_synonym="KIAA1333; PHF7B"
                     /coded_by="NM_017769.5:120..2240"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9638.1"
                     /db_xref="GeneID:55632"
                     /db_xref="HGNC:HGNC:20338"
                     /db_xref="MIM:611299"
ORIGIN      
        1 mneskpgdsq nlacvfcrkh ddcpnkygek ktkekwnltv hyycllmssg iwqrgkeeeg
       61 vygfliedir kevnrasklk ccvckkngas igcvaprckr syhfpcglqr ecifqftgnf
      121 asfcwdhrpv qiitsnnyre slpcticlef iepipsynil rspccknawf hrdclqvqai
      181 nagvfffrct icnnsdifqk emlrmgihip ekdaswelee nayqellqhy ercdvrrcrc
      241 kegrdynapd skweikrcqc cgssgthlac sslrsweqnw eclecrgiiy nsgefqkakk
      301 hvlpnsnnvg itdclleess pklprqspgs qskdllrqgs kfrrnvstll ielgfqikkk
      361 tkrlyinkan iwnsaldafr nrnfnpsyai evayviendn fgsehpgskq eflsllmqhl
      421 ensslfegsl sknlslnsqa lkenlyyeag kmlaislvhg gpspgffskt lfnclvygpe
      481 ntqpilddvs dfdvaqiiir intattvadl ksiinecyny leligclrli ttlsdkymlv
      541 kdilgyhviq rvhtpfesfk qglktlgvle kiqaypeafc silchkpesl sakilselft
      601 vhtlpdvkal gfwnsylqav edgkstttme dilifatgcs sippagfkpt psieclhvdf
      661 pvgnkcnncl aipitntyke fqenmdftir ntlrlekees shyigh
//
LOCUS       NP_001191119             506 aa            linear   PRI 29-JAN-2023
DEFINITION  tumor protein p73 isoform f [Homo sapiens].
ACCESSION   NP_001191119
VERSION     NP_001191119.1
DBSOURCE    REFSEQ: accession NM_001204190.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 506)
  AUTHORS   Zhang C, Zhao S, Deng H, Zhang S, Wang J, Song X, Yu D, Zhang Y and
            Deng W.
  TITLE     STAT3 promotes RNA polymerase III-directed transcription by
            controlling the miR-106a-5p/TP73 axis
  JOURNAL   Elife 12, e82826 (2023)
   PUBMED   36656267
  REMARK    GeneRIF: STAT3 promotes RNA polymerase III-directed transcription
            by controlling the miR-106a-5p/TP73 axis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 506)
  AUTHORS   Li C, Hou Y, Wei Q, Lin J, Jiang Q, Yang T, Xiao Y, Huang J, Cheng
            Y, Ou R, Liu K, Chen X, Song W, Zhao B, Wu Y, Cao B, Chen Y and
            Shang H.
  TITLE     Lack of association of TP73 rare variants with amyotrophic lateral
            sclerosis in a Chinese cohort
  JOURNAL   Hum Genomics 16 (1), 63 (2022)
   PUBMED   36451215
  REMARK    GeneRIF: Lack of association of TP73 rare variants with amyotrophic
            lateral sclerosis in a Chinese cohort.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 506)
  AUTHORS   Jafrin S, Aziz MA and Islam MS.
  TITLE     Association between TP73 G4C14-A4T14 polymorphism and different
            cancer types: an updated meta-analysis of 55 case-control studies
  JOURNAL   J Int Med Res 50 (10), 3000605221133173 (2022)
   PUBMED   36314251
  REMARK    GeneRIF: Association between TP73 G4C14-A4T14 polymorphism and
            different cancer types: an updated meta-analysis of 55 case-control
            studies.
REFERENCE   4  (residues 1 to 506)
  AUTHORS   Ong JZL, Yokomori R, Wong RWJ, Tan TK, Ueda R, Ishida T, Iida S and
            Sanda T.
  TITLE     Requirement for TP73 and genetic alterations originating from its
            intragenic super-enhancer in adult T-cell leukemia
  JOURNAL   Leukemia 36 (9), 2293-2305 (2022)
   PUBMED   35908104
  REMARK    GeneRIF: Requirement for TP73 and genetic alterations originating
            from its intragenic super-enhancer in adult T-cell leukemia.
REFERENCE   5  (residues 1 to 506)
  AUTHORS   Huang Z, Wang H and Yang M.
  TITLE     Long non-coding RNA tumor protein 73 antisense RNA 1 influences an
            interaction between lysine demethylase 5A and promoter of tumor
            protein 73 to enhance the malignancy of colorectal cancer
  JOURNAL   Hum Cell 35 (5), 1512-1520 (2022)
   PUBMED   35896939
  REMARK    GeneRIF: Long non-coding RNA tumor protein 73 antisense RNA 1
            influences an interaction between lysine demethylase 5A and
            promoter of tumor protein 73 to enhance the malignancy of
            colorectal cancer.
REFERENCE   6  (residues 1 to 506)
  AUTHORS   Mai M, Qian C, Yokomizo A, Tindall DJ, Bostwick D, Polychronakos C,
            Smith DI and Liu W.
  TITLE     Loss of imprinting and allele switching of p73 in renal cell
            carcinoma
  JOURNAL   Oncogene 17 (13), 1739-1741 (1998)
   PUBMED   9796703
REFERENCE   7  (residues 1 to 506)
  AUTHORS   Mai M, Huang H, Reed C, Qian C, Smith JS, Alderete B, Jenkins R,
            Smith DI and Liu W.
  TITLE     Genomic organization and mutation analysis of p73 in
            oligodendrogliomas with chromosome 1 p-arm deletions
  JOURNAL   Genomics 51 (3), 359-363 (1998)
   PUBMED   9721206
REFERENCE   8  (residues 1 to 506)
  AUTHORS   Nomoto S, Haruki N, Kondo M, Konishi H, Takahashi T, Takahashi T
            and Takahashi T.
  TITLE     Search for mutations and examination of allelic expression
            imbalance of the p73 gene at 1p36.33 in human lung cancers
  JOURNAL   Cancer Res 58 (7), 1380-1383 (1998)
   PUBMED   9537234
REFERENCE   9  (residues 1 to 506)
  AUTHORS   Jost CA, Marin MC and Kaelin WG Jr.
  TITLE     p73 is a simian [correction of human] p53-related protein that can
            induce apoptosis
  JOURNAL   Nature 389 (6647), 191-194 (1997)
   PUBMED   9296498
  REMARK    Erratum:[Nature 1999 Jun 24;399(6738):817]
REFERENCE   10 (residues 1 to 506)
  AUTHORS   Kaghad M, Bonnet H, Yang A, Creancier L, Biscan JC, Valent A, Minty
            A, Chalon P, Lelias JM, Dumont X, Ferrara P, McKeon F and Caput D.
  TITLE     Monoallelically expressed gene related to p53 at 1p36, a region
            frequently deleted in neuroblastoma and other human cancers
  JOURNAL   Cell 90 (4), 809-819 (1997)
   PUBMED   9288759
  REMARK    GeneRIF: TP73 gene is imprinted, with monoallelic expression likely
            from the maternal allele.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB055065.1, AL136528.11 and
            AI094238.1.
            
            Summary: This gene encodes a member of the p53 family of
            transcription factors involved in cellular responses to stress and
            development. It maps to a region on chromosome 1p36 that is
            frequently deleted in neuroblastoma and other tumors, and thought
            to contain multiple tumor suppressor genes. The demonstration that
            this gene is monoallelically expressed (likely from the maternal
            allele), supports the notion that it is a candidate gene for
            neuroblastoma. Many transcript variants resulting from alternative
            splicing and/or use of alternate promoters have been found for this
            gene, but the biological validity and the full-length nature of
            some variants have not been determined. [provided by RefSeq, Feb
            2011].
            
            Transcript Variant: This variant (6) differs in the 5' UTR and
            coding sequence and lacks two alternate coding exons compared to
            variant 1, one that causes a frameshift and the other that corrects
            the frameshift. The resulting isoform (f, also known as deltaN p73
            epsilon) has a shorter and distinct N-terminus and a shorter and
            distinct internal segment compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments. There are no
            full-length transcripts supporting this RefSeq in human; it is
            predicted based on partial transcript alignments and on full-length
            transcript support reported in PMID:12154353.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene            :: PMID: 9288759
            inferred exon combination :: PMID: 12154353
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..506
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.32"
     Protein         1..506
                     /product="tumor protein p73 isoform f"
                     /note="p53-related protein; p53-like transcription factor"
                     /calculated_mol_wt=56362
     Region          78..257
                     /region_name="P53"
                     /note="P53 DNA-binding domain; cd08367"
                     /db_xref="CDD:176262"
     Site            order(145,148,209,213)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:176262"
     Site            order(146..148,150)
                     /site_type="other"
                     /note="dimerization site [polypeptide binding]"
                     /db_xref="CDD:176262"
     Site            order(210,212,219,244,246..248,251)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:176262"
     Region          296..335
                     /region_name="P53_tetramer"
                     /note="P53 tetramerisation motif; pfam07710"
                     /db_xref="CDD:429612"
     Region          <396..421
                     /region_name="SAM_superfamily"
                     /note="SAM (Sterile alpha motif); cl15755"
                     /db_xref="CDD:449586"
     CDS             1..506
                     /gene="TP73"
                     /gene_synonym="CILD47; P73"
                     /coded_by="NM_001204190.2:235..1755"
                     /note="isoform f is encoded by transcript variant 6"
                     /db_xref="GeneID:7161"
                     /db_xref="HGNC:HGNC:12003"
                     /db_xref="MIM:601990"
ORIGIN      
        1 mlyvgdparh lataqfnlls stmdqmssra asaspytpeh aasvpthspy aqpsstfdtm
       61 spapvipsnt dypgphhfev tfqqsstaks atwtyspllk klycqiaktc piqikvstpp
      121 ppgtairamp vykkaehvtd vvkrcpnhel grdfnegqsa pashlirveg nnlsqyvddp
      181 vtgrqsvvvp yeppqvgtef ttilynfmcn sscvggmnrr piliiitlem rdgqvlgrrs
      241 fegricacpg rdrkadedhy reqqalness akngaaskra fkqsppavpa lgagvkkrrh
      301 gdedtyylqv rgrenfeilm klkeslelme lvpqplvdsy rqqqqllqrp prdaqqpwpr
      361 sasqrrdeqq pqrpvhglgv plhsatplpr rpqprqdlga lkipeqyrmt iwrglqdlkq
      421 ghdystaqql lrssnaatis iggsgelqrq rvmeavhfrv rhtitipnrg gpgggpdewa
      481 dfgfdlpdck arkqpikeef teaeih
//
LOCUS       NP_001336166             650 aa            linear   PRI 08-FEB-2023
DEFINITION  ubiquitin-like modifier-activating enzyme ATG7 isoform e [Homo
            sapiens].
ACCESSION   NP_001336166 XP_016861041
VERSION     NP_001336166.1
DBSOURCE    REFSEQ: accession NM_001349237.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 650)
  AUTHORS   Huang J, Sun M, Tao Y, Ren J, Peng M, Jing Y, Xiao Q, Yang J, Lin
            C, Lei L, Yang Z and Zhang L.
  TITLE     Cytoplasmic Expression of TP53INP2 Modulated by Demethylase FTO and
            Mutant NPM1 Promotes Autophagy in Leukemia Cells
  JOURNAL   Int J Mol Sci 24 (2), 1624 (2023)
   PUBMED   36675134
  REMARK    GeneRIF: Cytoplasmic Expression of TP53INP2 Modulated by
            Demethylase FTO and Mutant NPM1 Promotes Autophagy in Leukemia
            Cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 650)
  AUTHORS   Barrientos-Riosalido A, Real M, Bertran L, Aguilar C, Martinez S,
            Parada D, Vives M, Sabench F, Riesco D, Castillo DD, Richart C and
            Auguet T.
  TITLE     Increased Hepatic ATG7 mRNA and ATG7 Protein Expression in
            Nonalcoholic Steatohepatitis Associated with Obesity
  JOURNAL   Int J Mol Sci 24 (2), 1324 (2023)
   PUBMED   36674839
  REMARK    GeneRIF: Increased Hepatic ATG7 mRNA and ATG7 Protein Expression in
            Nonalcoholic Steatohepatitis Associated with Obesity.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 650)
  AUTHORS   Jiang R, He S, Gong H, Wang Y, Wei W, Chen J, Hu J, Ye C, LiuHuang
            S, Jin S, Wei H, Xu W and Xiao J.
  TITLE     Identification of ATG7 as a Regulator of Proferroptosis and
            Oxidative Stress in Osteosarcoma
  JOURNAL   Oxid Med Cell Longev 2022, 8441676 (2022)
   PUBMED   36254233
  REMARK    GeneRIF: Identification of ATG7 as a Regulator of Proferroptosis
            and Oxidative Stress in Osteosarcoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 650)
  AUTHORS   Sarosh M, Nurulain SM, Shah STA, Jadoon Khan M, Muneer Z, Bibi N,
            Shah SFA and Hussain S.
  TITLE     Association analysis of single nucleotide polymorphisms in
            autophagy related 7 (ATG7) gene in patients with coronary artery
            disease
  JOURNAL   Medicine (Baltimore) 101 (26), e29776 (2022)
   PUBMED   35777002
  REMARK    GeneRIF: Association analysis of single nucleotide polymorphisms in
            autophagy related 7 (ATG7) gene in patients with coronary artery
            disease.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 650)
  AUTHORS   Greer SU, Chen J, Ogmundsdottir MH, Ayala C, Lau BT, Delacruz RGC,
            Sandoval IT, Kristjansdottir S, Jones DA, Haslem DS, Romero R,
            Fulde G, Bell JM, Jonasson JG, Steingrimsson E, Ji HP and Nadauld
            LD.
  TITLE     Germline variants of ATG7 in familial cholangiocarcinoma alter
            autophagy and p62
  JOURNAL   Sci Rep 12 (1), 10333 (2022)
   PUBMED   35725745
  REMARK    GeneRIF: Germline variants of ATG7 in familial cholangiocarcinoma
            alter autophagy and p62.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 650)
  AUTHORS   Nemoto T, Tanida I, Tanida-Miyake E, Minematsu-Ikeguchi N, Yokota
            M, Ohsumi M, Ueno T and Kominami E.
  TITLE     The mouse APG10 homologue, an E2-like enzyme for Apg12p
            conjugation, facilitates MAP-LC3 modification
  JOURNAL   J Biol Chem 278 (41), 39517-39526 (2003)
   PUBMED   12890687
REFERENCE   7  (residues 1 to 650)
  AUTHORS   Tanida I, Tanida-Miyake E, Komatsu M, Ueno T and Kominami E.
  TITLE     Human Apg3p/Aut1p homologue is an authentic E2 enzyme for multiple
            substrates, GATE-16, GABARAP, and MAP-LC3, and facilitates the
            conjugation of hApg12p to hApg5p
  JOURNAL   J Biol Chem 277 (16), 13739-13744 (2002)
   PUBMED   11825910
REFERENCE   8  (residues 1 to 650)
  AUTHORS   Tanida I, Tanida-Miyake E, Nishitani T, Komatsu M, Yamazaki H, Ueno
            T and Kominami E.
  TITLE     Murine Apg12p has a substrate preference for murine Apg7p over
            three Apg8p homologs
  JOURNAL   Biochem Biophys Res Commun 292 (1), 256-262 (2002)
   PUBMED   11890701
REFERENCE   9  (residues 1 to 650)
  AUTHORS   Tanida I, Tanida-Miyake E, Ueno T and Kominami E.
  TITLE     The human homolog of Saccharomyces cerevisiae Apg7p is a
            Protein-activating enzyme for multiple substrates including human
            Apg12p, GATE-16, GABARAP, and MAP-LC3
  JOURNAL   J Biol Chem 276 (3), 1701-1706 (2001)
   PUBMED   11096062
REFERENCE   10 (residues 1 to 650)
  AUTHORS   Yuan W, Stromhaug PE and Dunn WA Jr.
  TITLE     Glucose-induced autophagy of peroxisomes in Pichia pastoris
            requires a unique E1-like protein
  JOURNAL   Mol Biol Cell 10 (5), 1353-1366 (1999)
   PUBMED   10233149
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC083855.3, AC020750.4,
            AC026185.4 and AC022001.5.
            On Mar 9, 2017 this sequence version replaced XP_016861041.1.
            
            Summary: This gene encodes an E1-like activating enzyme that is
            essential for autophagy and cytoplasmic to vacuole transport. The
            encoded protein is also thought to modulate p53-dependent cell
            cycle pathways during prolonged metabolic stress. It has been
            associated with multiple functions, including axon membrane
            trafficking, axonal homeostasis, mitophagy, adipose
            differentiation, and hematopoietic stem cell maintenance.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2015].
            
            Transcript Variant: This variant (9) encodes isoform e.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..650
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     Protein         1..650
                     /product="ubiquitin-like modifier-activating enzyme ATG7
                     isoform e"
                     /note="ubiquitin-like modifier-activating enzyme ATG7;
                     ATG12-activating enzyme E1 ATG7; hAGP7;
                     ubiquitin-activating enzyme E1-like protein; APG7
                     autophagy 7-like"
                     /calculated_mol_wt=72015
     Region          15..649
                     /region_name="E1_like_apg7"
                     /note="E1-like protein-activating enzyme Gsa7p/Apg7p;
                     TIGR01381"
                     /db_xref="CDD:273590"
     CDS             1..650
                     /gene="ATG7"
                     /gene_synonym="APG7-LIKE; APG7L; GSA7; SCAR31"
                     /coded_by="NM_001349237.2:45..1997"
                     /note="isoform e is encoded by transcript variant 9"
                     /db_xref="GeneID:10533"
                     /db_xref="HGNC:HGNC:16935"
                     /db_xref="MIM:608760"
ORIGIN      
        1 maaatgdpgl sklqfapfss aldvgfwhel tqkklneyrl deapkdikgy yyngdsaglp
       61 arltlefsaf dmsaptparc cpaigtlynt ntlesfktad kkllleqaan eiwesiksgt
      121 alenpvllnk fllltfadlk kyhfyywfcy palclpeslp liqgpvgldq rfslkqieal
      181 ecaydnlcqt egvtalpyfl ikydenmvlv sllkhysdff qgqrtkitig vydpcnlaqy
      241 pgwplrnflv laahrwsssf qsvevvcfrd rtmqgardva hsiifevklp emafspdcpk
      301 avgweknqkg gmgprmvnls ecmdpkrlae ssvdlnlklm cwrlvptldl dkvvsvkcll
      361 lgagtlgcnv artlmnargf nmsipmpghp vnfssvtleq arrdveqleq lieshdvvfl
      421 lmdtresrwl paviaaskrk lvinaalgfd tfvvmrhglk kpkqqgagdl cpnhpvasad
      481 llgsslfani pgyklgcyfc ndvvapgdst rdrtldqqct vsrpglavia galavelmvs
      541 vlqhpeggya iasssddrmn epptslglvp hqirgflsrf dnvlpvslaf dkctacsskv
      601 ldqyeregfn flakvfnssh sfledltglt llhqetqaae iwdmsddeti
//
LOCUS       NP_001353555             178 aa            linear   PRI 12-MAR-2023
DEFINITION  transmembrane protein 196 isoform 4 [Homo sapiens].
ACCESSION   NP_001353555 XP_011513552
VERSION     NP_001353555.1
DBSOURCE    REFSEQ: accession NM_001366626.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 178)
  AUTHORS   Chen J, Wang D, Chen H, Gu J, Jiang X, Han F, Cao J, Liu W and Liu
            J.
  TITLE     TMEM196 inhibits lung cancer metastasis by regulating the
            Wnt/beta-catenin signaling pathway
  JOURNAL   J Cancer Res Clin Oncol 149 (2), 653-667 (2023)
   PUBMED   36355209
  REMARK    GeneRIF: TMEM196 inhibits lung cancer metastasis by regulating the
            Wnt/beta-catenin signaling pathway.
REFERENCE   2  (residues 1 to 178)
  AUTHORS   Lee JU, Chang HS, Baek DG, Shin HD, Park CS and Park JS.
  TITLE     Associations between TMEM196 polymorphisms and NSAID-exacerbated
            respiratory disease in asthma
  JOURNAL   Pharmacogenet Genomics 29 (4), 69-75 (2019)
   PUBMED   30694883
  REMARK    GeneRIF: The minor alleles of the four SNPs in TMEM196 may exert a
            protective effect against the development of NSAID-exacerbated
            respiratory disease(NERD) and may be useful genetic markers to
            predict the risk of NERD.
REFERENCE   3  (residues 1 to 178)
  AUTHORS   Liu WB, Han F, Huang YS, Chen HQ, Chen JP, Wang DD, Jiang X, Yin L,
            Cao J and Liu JY.
  TITLE     TMEM196 hypermethylation as a novel diagnostic and prognostic
            biomarker for lung cancer
  JOURNAL   Mol Carcinog 58 (4), 474-487 (2019)
   PUBMED   30536447
  REMARK    GeneRIF: Low TMEM196 expression is associated with lung cancer.
REFERENCE   4  (residues 1 to 178)
  AUTHORS   Liu WB, Han F, Jiang X, Chen HQ, Zhao H, Liu Y, Li YH, Huang C, Cao
            J and Liu JY.
  TITLE     TMEM196 acts as a novel functional tumour suppressor inactivated by
            DNA methylation and is a potential prognostic biomarker in lung
            cancer
  JOURNAL   Oncotarget 6 (25), 21225-21239 (2015)
   PUBMED   26056045
  REMARK    GeneRIF: TMEM196 acts as a novel functional tumour suppressor
            inactivated by DNA methylation and is an independent prognostic
            factor of lung cancer
REFERENCE   5  (residues 1 to 178)
  AUTHORS   Foroud T, Lai D, Koller D, Van't Hof F, Kurki MI, Anderson CS,
            Brown RD Jr, Connolly ES, Eriksson JG, Flaherty M, Fornage M, von
            Und Zu Fraunberg M, Gaal EI, Laakso A, Hernesniemi J, Huston J,
            Jaaskelainen JE, Kiemeney LA, Kivisaari R, Kleindorfer D, Ko N,
            Lehto H, Mackey J, Meissner I, Moomaw CJ, Mosley TH, Moskala M,
            Niemela M, Palotie A, Pera J, Rinkel G, Ripke S, Rouleau G, Ruigrok
            Y, Sauerbeck L, Slowik A, Vermeulen SH, Woo D, Worrall BB and
            Broderick J.
  CONSRTM   Familial Intracranial Aneurysm Study Investigators
  TITLE     Genome-wide association study of intracranial aneurysm identifies a
            new association on chromosome 7
  JOURNAL   Stroke 45 (11), 3194-3199 (2014)
   PUBMED   25256182
REFERENCE   6  (residues 1 to 178)
  AUTHORS   Hwang SJ, Yang Q, Meigs JB, Pearce EN and Fox CS.
  TITLE     A genome-wide association for kidney function and endocrine-related
            traits in the NHLBI's Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S10 (2007)
   PUBMED   17903292
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 178)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N,
            Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar
            M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004543.2 and CK823401.1.
            On Oct 13, 2018 this sequence version replaced XP_011513552.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.187064.1,
                                           SRR1660805.187599.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142586, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..178
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.1"
     Protein         1..178
                     /product="transmembrane protein 196 isoform 4"
                     /calculated_mol_wt=18894
     Site            11..31
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYL7.2)"
     Site            47..67
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYL7.2)"
     Site            73..93
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYL7.2)"
     Site            106..126
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYL7.2)"
     CDS             1..178
                     /gene="TMEM196"
                     /coded_by="NM_001366626.1:922..1458"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:256130"
                     /db_xref="HGNC:HGNC:22431"
ORIGIN      
        1 mctsgqiigs llvlsvleig lgvssvavga vsfslalreh kpqlgdsspv wsgvcfllcg
       61 icgilcakkk sglvmilfsa ccicgliggi lnfqflravt kktsslyplh lasmslacig
      121 iggctlsswl tcrlasyeqr rmfserehsl hhshemaeke itdnmsnggp qlifngrv
//
LOCUS       NP_001357226             582 aa            linear   PRI 14-MAR-2023
DEFINITION  FYVE, RhoGEF and PH domain-containing protein 4 isoform 7 [Homo
            sapiens].
ACCESSION   NP_001357226 XP_016874294
VERSION     NP_001357226.1
DBSOURCE    REFSEQ: accession NM_001370297.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 582)
  AUTHORS   Yang Y, Jia J, Sun Z, Liu C, Li Z, Xiao Y, Yu J, Du F, Shi Y, Sun
            J, Shui J and Zhang X.
  TITLE     Polymorphism of FGD4 and myelosuppression in patients with
            esophageal squamous cell carcinoma
  JOURNAL   Future Oncol 17 (18), 2351-2363 (2021)
   PUBMED   33709789
  REMARK    GeneRIF: Polymorphism of FGD4 and myelosuppression in patients with
            esophageal squamous cell carcinoma.
REFERENCE   2  (residues 1 to 582)
  AUTHORS   Lin J, Huang H, Lin L, Li W and Huang J.
  TITLE     MiR-23a induced the activation of CDC42/PAK1 pathway and cell cycle
            arrest in human cov434 cells by targeting FGD4
  JOURNAL   J Ovarian Res 13 (1), 90 (2020)
   PUBMED   32772928
  REMARK    GeneRIF: MiR-23a induced the activation of CDC42/PAK1 pathway and
            cell cycle arrest in human cov434 cells by targeting FGD4.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 582)
  AUTHORS   Dai X, Liu J, Guo X, Cheng A, Deng X, Guo L and Wang Z.
  TITLE     Circular RNA circFGD4 suppresses gastric cancer progression via
            modulating miR-532-3p/APC/beta-catenin signalling pathway
  JOURNAL   Clin Sci (Lond) 134 (13), 1821-1839 (2020)
   PUBMED   32633323
  REMARK    GeneRIF: Circular RNA circFGD4 suppresses gastric cancer
            progression via modulating miR-532-3p/APC/beta-catenin signalling
            pathway.
REFERENCE   4  (residues 1 to 582)
  AUTHORS   Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R,
            Giguet-Valard AG, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V,
            Desvignes JP, Beroud C, Nguyen K, Verschueren A, Levy N, Attarian
            S, Delague V, Missirian C and Bonello-Palot N.
  TITLE     Identification of novel pathogenic copy number variations in
            Charcot-Marie-Tooth disease
  JOURNAL   J Hum Genet 65 (3), 313-323 (2020)
   PUBMED   31852984
  REMARK    GeneRIF: Identification of novel pathogenic copy number variations
            in Charcot-Marie-Tooth disease.
REFERENCE   5  (residues 1 to 582)
  AUTHORS   Rabizadeh S and Bredesen DE.
  TITLE     Ten years on: mediation of cell death by the common neurotrophin
            receptor p75(NTR)
  JOURNAL   Cytokine Growth Factor Rev 14 (3-4), 225-239 (2003)
   PUBMED   12787561
  REMARK    Review article
REFERENCE   6  (residues 1 to 582)
  AUTHORS   Salehi AH, Xanthoudakis S and Barker PA.
  TITLE     NRAGE, a p75 neurotrophin receptor-interacting protein, induces
            caspase activation and cell death through a JNK-dependent
            mitochondrial pathway
  JOURNAL   J Biol Chem 277 (50), 48043-48050 (2002)
   PUBMED   12376548
REFERENCE   7  (residues 1 to 582)
  AUTHORS   Harrington AW, Kim JY and Yoon SO.
  TITLE     Activation of Rac GTPase by p75 is necessary for c-jun N-terminal
            kinase-mediated apoptosis
  JOURNAL   J Neurosci 22 (1), 156-166 (2002)
   PUBMED   11756498
REFERENCE   8  (residues 1 to 582)
  AUTHORS   Delague,V.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 4H - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23926620
REFERENCE   9  (residues 1 to 582)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 4 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301641
REFERENCE   10 (residues 1 to 582)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090677.13, AC090440.16 and
            AC084824.20.
            On May 4, 2019 this sequence version replaced XP_016874294.1.
            
            Summary: This gene encodes a protein that is involved in the
            regulation of the actin cytoskeleton and cell shape. This protein
            contains an actin filament-binding domain, which together with its
            Dbl homology domain and one of its pleckstrin homology domains, can
            form microspikes. This protein can activate MAPK8 independently of
            the actin filament-binding domain, and it is also involved in the
            activation of CDC42 via the exchange of bound GDP for free GTP. The
            activation of CDC42 also enables this protein to play a role in
            mediating the cellular invasion of Cryptosporidium parvum, an
            intracellular parasite that infects the gastrointestinal tract.
            Mutations in this gene can cause Charcot-Marie-Tooth disease type
            4H (CMT4H), a disorder of the peripheral nervous system. Multiple
            alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jan
            2015].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.21681.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..582
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     Protein         1..582
                     /product="FYVE, RhoGEF and PH domain-containing protein 4
                     isoform 7"
                     /note="actin-filament binding protein frabin; FGD1 family,
                     member 4; FGD1-related F-actin-binding protein; zinc
                     finger FYVE domain-containing protein 6"
                     /calculated_mol_wt=66762
     Region          23..207
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(29,33,130,158..159,162..163,165..166,169..170,
                     173..174,177,203,207)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          239..332
                     /region_name="PH1_FDG4"
                     /note="FYVE, RhoGEF and PH domain containing/faciogenital
                     dysplasia proteins 4, N-terminal Pleckstrin homology (PH)
                     domain; cd15791"
                     /db_xref="CDD:275434"
     Region          370..434
                     /region_name="FYVE_FGD1_2_4"
                     /note="FYVE domain found in FYVE, RhoGEF and PH
                     domain-containing protein facio-genital dysplasia FGD1,
                     FGD2, FGD4; cd15741"
                     /db_xref="CDD:277280"
     Site            order(372,375,394..399,401..402,425..427)
                     /site_type="other"
                     /note="putative phosphatidylinositol 3-phosphate binding
                     site [chemical binding]"
                     /db_xref="CDD:277280"
     Region          453..555
                     /region_name="PH2_FGD1-4"
                     /note="FYVE, RhoGEF and PH domain containing/faciogenital
                     dysplasia proteins pleckstrin homology (PH) domain,
                     C-terminus; cd13236"
                     /db_xref="CDD:270056"
     CDS             1..582
                     /gene="FGD4"
                     /gene_synonym="CMT4H; FRABP; ZFYVE6"
                     /coded_by="NM_001370297.1:282..2030"
                     /note="isoform 7 is encoded by transcript variant 8"
                     /db_xref="GeneID:121512"
                     /db_xref="HGNC:HGNC:19125"
                     /db_xref="MIM:611104"
ORIGIN      
        1 mgtgqqntql qvqshketne qklhkianel llterayvnr ldlldqvfyc klleeanrgs
       61 fpaemvnkif snissinafh skfllpelek rmqewettpr igdilqklap flkmygeyvk
      121 gfdnamelvk nmteripqfk svveeiqkqk icgsltlqhh mlepvqripr yemllkdylr
      181 klppdsldwn dakksleiis taashsnsai rkmenlkkll eiyemlgeee divnpsneli
      241 kegqilklaa rntsaqeryl flfnnmllyc vpkfslvgsk ftvrtrvgid gmkivetqne
      301 eyphtfqvsg kertlelqas saqdkeewik alqetidafh qrhetfrnai akdndihsev
      361 staelgkrap rwirdnevtm cmkckepfna ltrrrhhcra cgyvvcwkcs dykaqleydg
      421 gklskvckdc yqiisgftds eekkrkgile iesaevsgns vvcsflqyme kskpwqkawc
      481 vipkqdplvl ymygapqdvr aqatipllgy vvdemprsad lphsfkltqs ksvhsfaads
      541 eelkqkwlkv illavtgetp ggpnehpatl ddhpepkkks ec
//
LOCUS       NP_001036097             152 aa            linear   PRI 14-MAR-2023
DEFINITION  sorting nexin-21 isoform c [Homo sapiens].
ACCESSION   NP_001036097
VERSION     NP_001036097.1
DBSOURCE    REFSEQ: accession NM_001042632.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 152)
  AUTHORS   Danson CM, Pearson N, Heesom KJ and Cullen PJ.
  TITLE     Sorting nexin-21 is a scaffold for the endosomal recruitment of
            huntingtin
  JOURNAL   J Cell Sci 131 (17) (2018)
   PUBMED   30072438
  REMARK    GeneRIF: The N-terminal extension of SNX21 interacts with
            huntingtin and recruit Htt to an endosomal population.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 152)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   3  (residues 1 to 152)
  AUTHORS   Zeng W, Yuan W, Wang Y, Jiao W, Zhu Y, Huang C, Li D, Li Y, Zhu C,
            Wu X and Liu M.
  TITLE     Expression of a novel member of sorting nexin gene family, SNX-L,
            in human liver development
  JOURNAL   Biochem Biophys Res Commun 299 (4), 542-548 (2002)
   PUBMED   12459172
  REMARK    GeneRIF: Data suggest that human sorting nexin-L (SNX-L) may be a
            regulatory gene involved in receptor protein degradation during
            embryonic liver development.
REFERENCE   4  (residues 1 to 152)
  AUTHORS   Worby CA and Dixon JE.
  TITLE     Sorting out the cellular functions of sorting nexins
  JOURNAL   Nat Rev Mol Cell Biol 3 (12), 919-931 (2002)
   PUBMED   12461558
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol. 2003 Feb;4(2):156.]
REFERENCE   5  (residues 1 to 152)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   6  (residues 1 to 152)
  AUTHORS   Xu Y, Seet LF, Hanson B and Hong W.
  TITLE     The Phox homology (PX) domain, a new player in phosphoinositide
            signalling
  JOURNAL   Biochem J 360 (Pt 3), 513-530 (2001)
   PUBMED   11736640
  REMARK    Review article
REFERENCE   7  (residues 1 to 152)
  AUTHORS   Teasdale RD, Loci D, Houghton F, Karlsson L and Gleeson PA.
  TITLE     A large family of endosome-localized proteins related to sorting
            nexin 1
  JOURNAL   Biochem J 358 (Pt 1), 7-16 (2001)
   PUBMED   11485546
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL008726.3, BC012904.1,
            AK095851.1 and KF456922.1.
            
            Summary: This gene encodes a member of the sorting nexin family.
            Members of this family contain a phox (PX) domain, which is a
            phosphoinositide binding domain, and are involved in intracellular
            trafficking. This protein does not contain a coiled coil region,
            like some family members. The specific function of this protein has
            not been determined. Multiple transcript variants encoding distinct
            isoforms have been identified for this gene. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (3) uses an alternate splice site
            in the coding region, compared to variant 1, that results in a
            frameshift. The resulting isoform (c) has a shorter and distinct
            C-terminus that lacks a PX domain, compared to isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BF569390.1, DN999390.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..152
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     Protein         1..152
                     /product="sorting nexin-21 isoform c"
                     /note="sorting nexin L; sorting nexin-21"
                     /calculated_mol_wt=16197
     Region          131..>146
                     /region_name="PX_domain"
                     /note="The Phox Homology domain, a phosphoinositide
                     binding module; cl02563"
                     /db_xref="CDD:445832"
     CDS             1..152
                     /gene="SNX21"
                     /gene_synonym="C20orf161; dJ337O18.4; PP3993; SNX-L; SNXL"
                     /coded_by="NM_001042632.3:122..580"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="GeneID:90203"
                     /db_xref="HGNC:HGNC:16154"
                     /db_xref="MIM:619200"
ORIGIN      
        1 mhrgtqegam asrllhrlrh alagdgpgea aaspeaeqfp esseleddda eglssrlsgt
       61 lsftsaedde ddededdeea gpdqlplgdg tsgedaersp ppdgqwgsql larqlqdfwk
      121 ksrntlapqr llfevtsanv vkdppsnstp sp
//
LOCUS       NP_066998                 84 aa            linear   PRI 15-MAR-2023
DEFINITION  hepcidin preproprotein [Homo sapiens].
ACCESSION   NP_066998
VERSION     NP_066998.1
DBSOURCE    REFSEQ: accession NM_021175.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 84)
  AUTHORS   Duque X, Mendoza E, Moran S, Suarez-Arriaga MC, Morales-Sanchez A,
            Fontes-Lemus JI, Dominguez-Martinez DA and Fuentes-Panana EM.
  TITLE     Epstein-Barr Virus Infection Is Associated with Elevated Hepcidin
            Levels
  JOURNAL   Int J Mol Sci 24 (2), 1630 (2023)
   PUBMED   36675141
  REMARK    GeneRIF: Epstein-Barr Virus Infection Is Associated with Elevated
            Hepcidin Levels.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 84)
  AUTHORS   Qiu H, Gu G, Zuo E and Cheng X.
  TITLE     Tumoral Overexpression of Hepcidin is Associated with Poor
            Prognosis of Patients with Clear Cell Renal Cell Carcinoma
  JOURNAL   Cancer Invest 41 (1), 84-92 (2023)
   PUBMED   36205556
  REMARK    GeneRIF: Tumoral Overexpression of Hepcidin is Associated with Poor
            Prognosis of Patients with Clear Cell Renal Cell Carcinoma.
REFERENCE   3  (residues 1 to 84)
  AUTHORS   Al-Janabi G, Al-Fahham A, Alsaedi ANN and Al-Amery AYK.
  TITLE     CORRELATION BETWEEN HEPCIDIN AND PROCALCITONIN AND THEIR DIAGNOSTIC
            ROLE IN PATIENTS WITH COVID-19
  JOURNAL   Wiad Lek 76 (1), 65-70 (2023)
   PUBMED   36883492
  REMARK    GeneRIF: CORRELATION BETWEEN HEPCIDIN AND PROCALCITONIN AND THEIR
            DIAGNOSTIC ROLE IN PATIENTS WITH COVID-19.
REFERENCE   4  (residues 1 to 84)
  AUTHORS   Olinder J, Borjesson A, Norrman J, West T, Carlstrom J, Gustafsson
            A, Annborn M, Herwald H and Ryden C.
  TITLE     Hepcidin discriminates sepsis from other critical illness at
            admission to intensive care
  JOURNAL   Sci Rep 12 (1), 14857 (2022)
   PUBMED   36050405
  REMARK    GeneRIF: Hepcidin discriminates sepsis from other critical illness
            at admission to intensive care.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 84)
  AUTHORS   Kluver E, Schulz A, Forssmann WG and Adermann K.
  TITLE     Chemical synthesis of beta-defensins and LEAP-1/hepcidin
  JOURNAL   J Pept Res 59 (6), 241-248 (2002)
   PUBMED   12010514
REFERENCE   6  (residues 1 to 84)
  AUTHORS   Majore,S., Binni,F., Ricerca,B.M., Brioli,G. and Grammatico,P.
  TITLE     Absence of hepcidin gene mutations in 10 Italian patients with
            primary iron overload
  JOURNAL   Haematologica 87 (2), 221-222 (2002)
   PUBMED   11836175
  REMARK    GeneRIF: The sequencing of the whole hepcidin coding region,
            intron-exon junctions, 5' and partially 3'UTRs, did not reveal any
            alteration in the iron overload patients.
REFERENCE   7  (residues 1 to 84)
  AUTHORS   Pigeon C, Ilyin G, Courselaud B, Leroyer P, Turlin B, Brissot P and
            Loreal O.
  TITLE     A new mouse liver-specific gene, encoding a protein homologous to
            human antimicrobial peptide hepcidin, is overexpressed during iron
            overload
  JOURNAL   J Biol Chem 276 (11), 7811-7819 (2001)
   PUBMED   11113132
REFERENCE   8  (residues 1 to 84)
  AUTHORS   Park CH, Valore EV, Waring AJ and Ganz T.
  TITLE     Hepcidin, a urinary antimicrobial peptide synthesized in the liver
  JOURNAL   J Biol Chem 276 (11), 7806-7810 (2001)
   PUBMED   11113131
REFERENCE   9  (residues 1 to 84)
  AUTHORS   Krause A, Neitz S, Magert HJ, Schulz A, Forssmann WG, Schulz-Knappe
            P and Adermann K.
  TITLE     LEAP-1, a novel highly disulfide-bonded human peptide, exhibits
            antimicrobial activity
  JOURNAL   FEBS Lett 480 (2-3), 147-150 (2000)
   PUBMED   11034317
  REMARK    GeneRIF: A highly disulfide-bonded human antimicrobial protein,
            LEAP1, is reported.
REFERENCE   10 (residues 1 to 84)
  AUTHORS   Piperno,A., Bertola,F. and Bentivegna,A.
  TITLE     Juvenile Hemochromatosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301349
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF309489.1 and AY358669.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The product encoded by this gene is involved in the
            maintenance of iron homeostasis, and it is necessary for the
            regulation of iron storage in macrophages, and for intestinal iron
            absorption. The preproprotein is post-translationally cleaved into
            mature peptides of 20, 22 and 25 amino acids, and these active
            peptides are rich in cysteines, which form intramolecular bonds
            that stabilize their beta-sheet structures. These peptides exhibit
            antimicrobial activity against bacteria and fungi. Mutations in
            this gene cause hemochromatosis type 2B, also known as juvenile
            hemochromatosis, a disease caused by severe iron overload that
            results in cardiomyopathy, cirrhosis, and endocrine failure.
            [provided by RefSeq, Oct 2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC020612.1, BP346863.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000222304.5/
                                                  ENSP00000222304.2
            Protein has antimicrobial activity :: PMID: 11034317
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..84
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     Protein         1..84
                     /product="hepcidin preproprotein"
                     /note="putative liver tumor regressor; liver-expressed
                     antimicrobial peptide 1"
                     /calculated_mol_wt=6937
     sig_peptide     1..24
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2489
     Region          33..84
                     /region_name="Hepcidin"
                     /note="pfam06446"
                     /db_xref="CDD:428948"
     CDS             1..84
                     /gene="HAMP"
                     /gene_synonym="HEPC; HFE2B; LEAP1; PLTR"
                     /coded_by="NM_021175.4:51..305"
                     /db_xref="CCDS:CCDS12454.1"
                     /db_xref="GeneID:57817"
                     /db_xref="HGNC:HGNC:15598"
                     /db_xref="MIM:606464"
ORIGIN      
        1 malssqiwaa clllllllas ltsgsvfpqq tgqlaelqpq dragaraswm pmfqrrrrrd
       61 thfpicifcc gcchrskcgm cckt
//
LOCUS       NP_003066               1214 aa            linear   PRI 15-MAR-2023
DEFINITION  SWI/SNF complex subunit SMARCC2 isoform a [Homo sapiens].
ACCESSION   NP_003066
VERSION     NP_003066.2
DBSOURCE    REFSEQ: accession NM_003075.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1214)
  AUTHORS   Li C, Wang T, Gu J, Qi S, Li J, Chen L, Wu H, Shi L, Song C, Li H,
            Zhu L, Lu Y and Zhou Q.
  TITLE     SMARCC2 mediates the regulation of DKK1 by the transcription factor
            EGR1 through chromatin remodeling to reduce the proliferative
            capacity of glioblastoma
  JOURNAL   Cell Death Dis 13 (11), 990 (2022)
   PUBMED   36418306
  REMARK    GeneRIF: SMARCC2 mediates the regulation of DKK1 by the
            transcription factor EGR1 through chromatin remodeling to reduce
            the proliferative capacity of glioblastoma.
            Erratum:[Cell Death Dis. 2022 Dec 12;13(12):1033. PMID: 36509739]
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1214)
  AUTHORS   Li D, Downes H, Hou C, Hakonarson H, Zackai EH, Schrier Vergano SA
            and Bhoj EJ.
  TITLE     Further supporting SMARCC2-related neurodevelopmental disorder
            through exome analysis and reanalysis in two patients
  JOURNAL   Am J Med Genet A 188 (3), 878-882 (2022)
   PUBMED   34881817
  REMARK    GeneRIF: Further supporting SMARCC2-related neurodevelopmental
            disorder through exome analysis and reanalysis in two patients.
REFERENCE   3  (residues 1 to 1214)
  AUTHORS   Kim M, Park J, Bouhaddou M, Kim K, Rojc A, Modak M, Soucheray M,
            McGregor MJ, O'Leary P, Wolf D, Stevenson E, Foo TK, Mitchell D,
            Herrington KA, Munoz DP, Tutuncuoglu B, Chen KH, Zheng F, Kreisberg
            JF, Diolaiti ME, Gordan JD, Coppe JP, Swaney DL, Xia B, van 't Veer
            L, Ashworth A, Ideker T and Krogan NJ.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   4  (residues 1 to 1214)
  AUTHORS   Li C, Fei C, Li J, Wu H, Chen L, Roshani R, Li H, Shi L, Song C, Gu
            J, Lu Y and Zhou Q.
  TITLE     SMARCC2 combined with c-Myc inhibits the migration and invasion of
            glioma cells via modulation of the Wnt/beta-catenin signaling
            pathway
  JOURNAL   Mol Med Rep 24 (2) (2021)
   PUBMED   34080022
  REMARK    GeneRIF: SMARCC2 combined with cMyc inhibits the migration and
            invasion of glioma cells via modulation of the Wnt/betacatenin
            signaling pathway.
REFERENCE   5  (residues 1 to 1214)
  AUTHORS   Ochoa D, Jarnuczak AF, Vieitez C, Gehre M, Soucheray M, Mateus A,
            Kleefeldt AA, Hill A, Garcia-Alonso L, Stein F, Krogan NJ, Savitski
            MM, Swaney DL, Vizcaino JA, Noh KM and Beltrao P.
  TITLE     The functional landscape of the human phosphoproteome
  JOURNAL   Nat Biotechnol 38 (3), 365-373 (2020)
   PUBMED   31819260
  REMARK    GeneRIF: Results identified phosphosites in SMARCC2 and provide
            evidence for its role in neuronal differentiation.
REFERENCE   6  (residues 1 to 1214)
  AUTHORS   Wang W, Chi T, Xue Y, Zhou S, Kuo A and Crabtree GR.
  TITLE     Architectural DNA binding by a high-mobility-group/kinesin-like
            subunit in mammalian SWI/SNF-related complexes
  JOURNAL   Proc Natl Acad Sci U S A 95 (2), 492-498 (1998)
   PUBMED   9435219
REFERENCE   7  (residues 1 to 1214)
  AUTHORS   Reyes JC, Muchardt C and Yaniv M.
  TITLE     Components of the human SWI/SNF complex are enriched in active
            chromatin and are associated with the nuclear matrix
  JOURNAL   J Cell Biol 137 (2), 263-274 (1997)
   PUBMED   9128241
REFERENCE   8  (residues 1 to 1214)
  AUTHORS   Wang W, Cote J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C,
            Kalpana GV, Goff SP, Yaniv M, Workman JL and Crabtree GR.
  TITLE     Purification and biochemical heterogeneity of the mammalian SWI-SNF
            complex
  JOURNAL   EMBO J 15 (19), 5370-5382 (1996)
   PUBMED   8895581
REFERENCE   9  (residues 1 to 1214)
  AUTHORS   Wang W, Xue Y, Zhou S, Kuo A, Cairns BR and Crabtree GR.
  TITLE     Diversity and specialization of mammalian SWI/SNF complexes
  JOURNAL   Genes Dev 10 (17), 2117-2130 (1996)
   PUBMED   8804307
REFERENCE   10 (residues 1 to 1214)
  AUTHORS   Schrier Vergano,S., Santen,G., Wieczorek,D., Wollnik,B.,
            Matsumoto,N. and Deardorff,M.A.
  TITLE     Coffin-Siris Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23556151
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY118539.1, AK315153.1,
            BC009067.1, CX165574.1 and BM875330.1.
            On May 28, 2002 this sequence version replaced NP_003066.1.
            
            Summary: The protein encoded by this gene is a member of the
            SWI/SNF family of proteins, whose members display helicase and
            ATPase activities and which are thought to regulate transcription
            of certain genes by altering the chromatin structure around those
            genes. The encoded protein is part of the large ATP-dependent
            chromatin remodeling complex SNF/SWI and contains a predicted
            leucine zipper motif typical of many transcription factors.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) encodes isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC026222.3, SRR11853560.7021.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1214
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     Protein         1..1214
                     /product="SWI/SNF complex subunit SMARCC2 isoform a"
                     /note="chromatin remodeling complex BAF170 subunit;
                     SWI3-like protein; SWI/SNF complex 170 kDa subunit;
                     mammalian chromatin remodeling complex BRG1-associated
                     factor 170; SWI/SNF complex subunit SMARCC2"
                     /calculated_mol_wt=132749
     Region          7..420
                     /region_name="SWIRM-assoc_2"
                     /note="SWIRM-associated domain at the N-terminal;
                     pfam16496"
                     /db_xref="CDD:435378"
     Region          257..413
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAQ2.1)"
     Site            283
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8TAQ2.1)"
     Site            286
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8TAQ2.1)"
     Site            302
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TAQ2.1)"
     Site            304
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q8TAQ2.1)"
     Site            306
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8TAQ2.1)"
     Site            326
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q8TAQ2.1)"
     Site            347
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8TAQ2.1)"
     Region          379..>708
                     /region_name="RSC8"
                     /note="RSC chromatin remodeling complex subunit RSC8
                     [Chromatin structure and dynamics / Transcription];
                     COG5259"
                     /db_xref="CDD:227584"
     Site            387
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6PDG5; propagated from
                     UniProtKB/Swiss-Prot (Q8TAQ2.1)"
     Site            548
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TAQ2.1)"
     Region          684..748
                     /region_name="SWIRM-assoc_3"
                     /note="SWIRM-associated domain at the C-terminal;
                     pfam16498"
                     /db_xref="CDD:435380"
     Region          <690..947
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          724..852
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAQ2.1)"
     Site            813
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TAQ2.1)"
     Region          <880..946
                     /region_name="SWIRM-assoc_1"
                     /note="SWIRM-associated region 1; pfam16495"
                     /db_xref="CDD:435377"
     Region          947..983
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAQ2.1)"
     Region          <968..1203
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          997..1092
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAQ2.1)"
     Region          1182..1214
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAQ2.1)"
     CDS             1..1214
                     /gene="SMARCC2"
                     /gene_synonym="BAF170; CRACC2; CSS8; Rsc8"
                     /coded_by="NM_003075.5:23..3667"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS8907.1"
                     /db_xref="GeneID:6601"
                     /db_xref="HGNC:HGNC:11105"
                     /db_xref="MIM:601734"
ORIGIN      
        1 mavrkkdggp nvkyyeaadt vtqfdnvrlw lgknykkyiq aepptnksls slvvqllqfq
       61 eevfgkhvsn apltklpikc fldfkaggsl chilaaaykf ksdqgwrryd fqnpsrmdrn
      121 vemfmtieks lvqnnclsrp niflcpeiep kllgklkdii krhqgtvted knnashvvyp
      181 vpgnleeeew vrpvmkrdkq vllhwgyypd sydtwipase ieasvedapt pekprkvhak
      241 wildtdtfne wmneedyevn ddknpvsrrk kisaktltde vnspdsdrrd kkggnykkrk
      301 rspspsptpe akkknakkgp stpytkskrg hreeeqedlt kdmdepspvp nveevtlpkt
      361 vntkkdsesa pvkggtmtdl deqedesmet tgkdedenst gnkgeqtknp dlhednvteq
      421 thhiiipsya awfdynsvha ierralpeff ngknksktpe iylayrnfmi dtyrlnpqey
      481 ltstacrrnl agdvcaimrv hafleqwgli nyqvdaesrp tpmgppptsh fhvladtpsg
      541 lvplqpktpq qtsasqqmln fpdkgkekpt dmqnfglrtd mytkknvpsk skaaasatre
      601 wteqetllll ealemykddw nkvsehvgsr tqdecilhfl rlpiedpyle dseaslgpla
      661 yqpipfsqsg npvmstvafl asvvdprvas aaaksaleef skmkeevpta lveahvrkve
      721 eaakvtgkad pafglessgi agttsdeper ieesgndear vegqatdekk epkepreggg
      781 aieeeakekt seapkkdeek gkegdsekes eksdgdpivd pekekepkeg qeevlkevve
      841 segerktkve rdigegnlst aaaaalaaaa vkakhlaave erkikslval lvetqmkkle
      901 iklrhfeele timdrereal eyqrqqllad rqafhmeqlk yaemrarqqh fqqmhqqqqq
      961 pppalppgsq pipptgaagp pavhglavap asvvpapags gappgslgps eqigqagsta
     1021 gpqqqqpaga pqpgavppgv pppgphgpsp fpnqqtppsm mpgavpgsgh pgvagnaplg
     1081 lpfgmppppp ppapsiipfg sladsisinl pappnlhghh hhlpfapgtl pppnlpvsma
     1141 nplhpnlpat ttmpsslplg pglgsaaaqs paivaavqgn llpsasplpd pgtplppdpt
     1201 apspgtvtpv pppq
//
LOCUS       NP_001307722             234 aa            linear   PRI 15-MAR-2023
DEFINITION  cyclic AMP-responsive element-binding protein 1 isoform C [Homo
            sapiens].
ACCESSION   NP_001307722
VERSION     NP_001307722.1
DBSOURCE    REFSEQ: accession NM_001320793.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 234)
  AUTHORS   Franke K, Bal G, Li Z, Zuberbier T and Babina M.
  TITLE     CREB Is Activated by the SCF/KIT Axis in a Partially ERK-Dependent
            Manner and Orchestrates Survival and the Induction of Immediate
            Early Genes in Human Skin Mast Cells
  JOURNAL   Int J Mol Sci 24 (4), 4135 (2023)
   PUBMED   36835547
  REMARK    GeneRIF: CREB Is Activated by the SCF/KIT Axis in a Partially
            ERK-Dependent Manner and Orchestrates Survival and the Induction of
            Immediate Early Genes in Human Skin Mast Cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 234)
  AUTHORS   Mocanu-Dobranici AE, Costache M and Dinescu S.
  TITLE     Insights into the Molecular Mechanisms Regulating Cell Behavior in
            Response to Magnetic Materials and Magnetic Stimulation in Stem
            Cell (Neurogenic) Differentiation
  JOURNAL   Int J Mol Sci 24 (3), 2028 (2023)
   PUBMED   36768351
  REMARK    GeneRIF: Insights into the Molecular Mechanisms Regulating Cell
            Behavior in Response to Magnetic Materials and Magnetic Stimulation
            in Stem Cell (Neurogenic) Differentiation.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 234)
  AUTHORS   Wang L, Tang X, Liang P, Zhou C, Sun Y and Liang Y.
  TITLE     Correlation between variants of the CREB1 and GRM7 genes and risk
            of depression
  JOURNAL   BMC Psychiatry 23 (1), 3 (2023)
   PUBMED   36597080
  REMARK    GeneRIF: Correlation between variants of the CREB1 and GRM7 genes
            and risk of depression.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 234)
  AUTHORS   Yang Q, Tang J, Cao J, Liu F, Fu M, Xue B, Zhou A, Chen S, Liu J,
            Zhou Y, Shi Y, Peng W and Chen X.
  TITLE     SARS-CoV-2 infection activates CREB/CBP in cellular cyclic
            AMP-dependent pathways
  JOURNAL   J Med Virol 95 (1), e28383 (2023)
   PUBMED   36477795
  REMARK    GeneRIF: SARS-CoV-2 infection activates CREB/CBP in cellular cyclic
            AMP-dependent pathways.
REFERENCE   5  (residues 1 to 234)
  AUTHORS   Geng X, Qiu X, Gao J, Gong Z, Zhou X, Liu C and Luo H.
  TITLE     CREB1 regulates KPNA2 by inhibiting mir-495-3p transcription to
            control melanoma progression : The role of the
            CREB1/miR-495-3p/KPNA2 axis in melanoma progression
  JOURNAL   BMC Mol Cell Biol 23 (1), 57 (2022)
   PUBMED   36522613
  REMARK    GeneRIF: CREB1 regulates KPNA2 by inhibiting mir-495-3p
            transcription to control melanoma progression : The role of the
            CREB1/miR-495-3p/KPNA2 axis in melanoma progression.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 234)
  AUTHORS   Meyer TE and Habener JF.
  TITLE     Cyclic AMP response element binding protein CREB and modulator
            protein CREM are products of distinct genes
  JOURNAL   Nucleic Acids Res 20 (22), 6106 (1992)
   PUBMED   1461747
REFERENCE   7  (residues 1 to 234)
  AUTHORS   Zhao LJ and Giam CZ.
  TITLE     Human T-cell lymphotropic virus type I (HTLV-I) transcriptional
            activator, Tax, enhances CREB binding to HTLV-I 21-base-pair
            repeats by protein-protein interaction
  JOURNAL   Proc Natl Acad Sci U S A 89 (15), 7070-7074 (1992)
   PUBMED   1386673
REFERENCE   8  (residues 1 to 234)
  AUTHORS   Rehfuss RP, Walton KM, Loriaux MM and Goodman RH.
  TITLE     The cAMP-regulated enhancer-binding protein ATF-1 activates
            transcription in response to cAMP-dependent protein kinase A
  JOURNAL   J Biol Chem 266 (28), 18431-18434 (1991)
   PUBMED   1655749
REFERENCE   9  (residues 1 to 234)
  AUTHORS   Short ML, Manohar CF, Furtado MR, Ghadge GD, Wolinsky SM,
            Thimmapaya B and Jungmann RA.
  TITLE     Nucleotide and derived amino-acid sequences of the CRE-binding
            proteins from rat C6 glioma and HeLa cells
  JOURNAL   Nucleic Acids Res 19 (15), 4290 (1991)
   PUBMED   1831258
REFERENCE   10 (residues 1 to 234)
  AUTHORS   Waeber G, Meyer TE, Hoeffler JP and Habener JF.
  TITLE     Diversification of cyclic AMP-responsive enhancer binding
            proteins-generated by alternative exon splicing
  JOURNAL   Trans Assoc Am Physicians 103, 28-37 (1990)
   PUBMED   1966745
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC366797.1, AK298740.1 and
            AC009298.3.
            
            Summary: This gene encodes a transcription factor that is a member
            of the leucine zipper family of DNA binding proteins. This protein
            binds as a homodimer to the cAMP-responsive element, an octameric
            palindrome. The protein is phosphorylated by several protein
            kinases, and induces transcription of genes in response to hormonal
            stimulation of the cAMP pathway. Alternate splicing of this gene
            results in several transcript variants encoding different isoforms.
            [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            exon and differs in the 3' UTR and coding sequence compared to
            variant 2. The resulting isoform (C) lacks an alternate internal
            segment and has a shorter and distinct C-terminus compared to
            isoform B.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK298740.1, SRR14038194.2207645.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..234
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.3"
     Protein         1..234
                     /product="cyclic AMP-responsive element-binding protein 1
                     isoform C"
                     /note="cAMP-response element-binding protein-1; active
                     transcription factor CREB; transactivator protein; cyclic
                     AMP-responsive element-binding protein 1; cyclic adenosine
                     3',5'-monophosphate response element-binding protein CREB;
                     cyclic adenosine 3',5'-monophosphate response element
                     binding protein"
                     /calculated_mol_wt=24537
     Region          1..26
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P16220.3)"
     Region          94..113
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P16220.3)"
     Region          99..137
                     /region_name="pKID"
                     /note="pKID domain; pfam02173"
                     /db_xref="CDD:396650"
     Site            119
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CaMK1, CaMK2, CaMK4, PKB/AKT1 or
                     PKB/AKT2, RPS6KA3, RPS6KA4, RPS6KA5, SGK1 and TSSK4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00312,
                     ECO:0000269|PubMed:15733869, ECO:0000269|PubMed:15964553,
                     ECO:0000269|PubMed:7608156, ECO:0000269|PubMed:8065343,
                     ECO:0000269|PubMed:9770464, ECO:0000269|PubMed:9829964;
                     propagated from UniProtKB/Swiss-Prot (P16220.3)"
     Region          125..148
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P16220.3)"
     Site            128
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16220.3)"
     CDS             1..234
                     /gene="CREB1"
                     /gene_synonym="CREB; CREB-1"
                     /coded_by="NM_001320793.2:182..886"
                     /note="isoform C is encoded by transcript variant 3"
                     /db_xref="GeneID:1385"
                     /db_xref="HGNC:HGNC:2345"
                     /db_xref="MIM:123810"
ORIGIN      
        1 mtmesgaenq qsgdaavtea enqqmtvqaq pqiatlaqvs mpaahatssa ptvtlvqlpn
       61 gqtvqvhgvi qaaqpsviqs pqvqtvqist iaesedsqes vdsvtdsqkr reilsrrpsy
      121 rkilndlssd apgvprieee kseeetsapa ittvtvptpi yqtssgqyia itqggaiqla
      181 nngtdgvqgl qtltmtnaaa tqpgttilqy aqttdgqqil vpsnqvvvqg tqkl
//
LOCUS       NP_996828               1556 aa            linear   PRI 17-MAR-2023
DEFINITION  transient receptor potential cation channel subfamily M member 3
            isoform e [Homo sapiens].
ACCESSION   NP_996828
VERSION     NP_996828.3
DBSOURCE    REFSEQ: accession NM_206945.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1556)
  AUTHORS   Kashio M and Tominaga M.
  TITLE     Role of novel de novo gain-of-function TRPM3 mutations in a
            spectrum of neurodevelopmental disorders
  JOURNAL   Cell Calcium 110, 102704 (2023)
   PUBMED   36804759
  REMARK    GeneRIF: Role of novel de novo gain-of-function TRPM3 mutations in
            a spectrum of neurodevelopmental disorders.
REFERENCE   2  (residues 1 to 1556)
  AUTHORS   Burglen L, Van Hoeymissen E, Qebibo L, Barth M, Belnap N, Boschann
            F, Depienne C, De Clercq K, Douglas AGL, Fitzgerald MP, Foulds N,
            Garel C, Helbig I, Held K, Horn D, Janssen A, Kaindl AM, Narayanan
            V, Prager C, Rupin-Mas M, Afenjar A, Zhao S, Ramaekers VT, Ruggiero
            SM, Thomas S, Valence S, Van Maldergem L, Rohacs T, Rodriguez D,
            Dyment D, Voets T and Vriens J.
  TITLE     Gain-of-function variants in the ion channel gene TRPM3 underlie a
            spectrum of neurodevelopmental disorders
  JOURNAL   Elife 12, e81032 (2023)
   PUBMED   36648066
  REMARK    GeneRIF: Gain-of-function variants in the ion channel gene TRPM3
            underlie a spectrum of neurodevelopmental disorders.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1556)
  AUTHORS   Zhao C and MacKinnon R.
  TITLE     Structural and functional analyses of a GPCR-inhibited ion channel
            TRPM3
  JOURNAL   Neuron 111 (1), 81-91 (2023)
   PUBMED   36283409
  REMARK    GeneRIF: Structural and functional analyses of a GPCR-inhibited ion
            channel TRPM3.
REFERENCE   4  (residues 1 to 1556)
  AUTHORS   Zhao S, Carnevale V, Gabrielle M, Gianti E and Rohacs T.
  TITLE     Computational and functional studies of the PI(4,5)P2 binding site
            of the TRPM3 ion channel reveal interactions with other regulators
  JOURNAL   J Biol Chem 298 (11), 102547 (2022)
   PUBMED   36181791
  REMARK    GeneRIF: Computational and functional studies of the PI(4,5)P2
            binding site of the TRPM3 ion channel reveal interactions with
            other regulators.
REFERENCE   5  (residues 1 to 1556)
  AUTHORS   Behrendt M.
  TITLE     TRPM3 in the eye and in the nervous system - from new findings to
            novel mechanisms
  JOURNAL   Biol Chem 403 (8-9), 859-868 (2022)
   PUBMED   35240732
  REMARK    GeneRIF: TRPM3 in the eye and in the nervous system - from new
            findings to novel mechanisms.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1556)
  AUTHORS   Oberwinkler J, Lis A, Giehl KM, Flockerzi V and Philipp SE.
  TITLE     Alternative splicing switches the divalent cation selectivity of
            TRPM3 channels
  JOURNAL   J Biol Chem 280 (23), 22540-22548 (2005)
   PUBMED   15824111
  REMARK    GeneRIF: the divalent cation selectivity of TRPM3 channels is
            regulated by altenrative splicing
REFERENCE   7  (residues 1 to 1556)
  AUTHORS   Grimm C, Kraft R, Schultz G and Harteneck C.
  TITLE     Activation of the melastatin-related cation channel TRPM3 by
            D-erythro-sphingosine [corrected]
  JOURNAL   Mol Pharmacol 67 (3), 798-805 (2005)
   PUBMED   15550678
  REMARK    GeneRIF: TRPM3 is the first ion channel activated by sphingolipids.
            Erratum:[Mol Pharmacol. 2005 Apr;67(4):1382]
REFERENCE   8  (residues 1 to 1556)
  AUTHORS   Grimm C, Kraft R, Sauerbruch S, Schultz G and Harteneck C.
  TITLE     Molecular and functional characterization of the melastatin-related
            cation channel TRPM3
  JOURNAL   J Biol Chem 278 (24), 21493-21501 (2003)
   PUBMED   12672799
REFERENCE   9  (residues 1 to 1556)
  AUTHORS   Lee N, Chen J, Sun L, Wu S, Gray KR, Rich A, Huang M, Lin JH, Feder
            JN, Janovitz EB, Levesque PC and Blanar MA.
  TITLE     Expression and characterization of human transient receptor
            potential melastatin 3 (hTRPM3)
  JOURNAL   J Biol Chem 278 (23), 20890-20897 (2003)
   PUBMED   12672827
  REMARK    GeneRIF: The hTRPM3 gene is comprised of 24 exons and maps to
            chromosome 9q-21.12 and is composed of 1555 amino acids with the
            characteristic six-transmembrane domain of TRPs and is expressed in
            kidney and, at lesser levels, in brain, testis, and spinal cord
REFERENCE   10 (residues 1 to 1556)
  AUTHORS   Dyment,D., Lines,M. and Innes,A.M.
  TITLE     TRPM3-Related Neurodevelopmental Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36821706
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356318.7, AL159990.12,
            AL358786.21 and AL442645.8.
            On Jul 27, 2007 this sequence version replaced NP_996828.2.
            
            Summary: The product of this gene belongs to the family of
            transient receptor potential (TRP) channels. TRP channels are
            cation-selective channels important for cellular calcium signaling
            and homeostasis. The protein encoded by this gene mediates calcium
            entry, and this entry is potentiated by calcium store depletion.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (4) contains one alternate
            in-frame exon and lacks another compared to variant 1. The
            resulting isoform (e) has the same N- and C-termini and is longer
            compared to isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.1839841.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1556
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.12-q21.13"
     Protein         1..1556
                     /product="transient receptor potential cation channel
                     subfamily M member 3 isoform e"
                     /note="long transient receptor potential channel 3;
                     melastatin-2"
                     /calculated_mol_wt=177641
     Region          1..265
                     /region_name="LSDAT_euk"
                     /note="SLOG in TRPM; pfam18139"
                     /db_xref="CDD:436301"
     Region          <718..1036
                     /region_name="TRPV"
                     /note="Transient Receptor Potential channel, Vanilloid
                     subfamily (TRPV); cl40437"
                     /db_xref="CDD:454755"
     Region          1064..1119
                     /region_name="TRPM_tetra"
                     /note="Tetramerisation domain of TRPM; pfam16519"
                     /db_xref="CDD:435393"
     CDS             1..1556
                     /gene="TRPM3"
                     /gene_synonym="CTRCT50; GON-2; LTRPC3; MLSN2; NEDFSS"
                     /coded_by="NM_206945.5:350..5020"
                     /note="isoform e is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS65064.1"
                     /db_xref="GeneID:80036"
                     /db_xref="HGNC:HGNC:17992"
                     /db_xref="MIM:608961"
ORIGIN      
        1 myvrvsfdtk pdlllhlmtk ewqlelpkll isvhgglqnf elqpklkqvf gkglikaamt
       61 tgawiftggv ntgvirhvgd alkdhasksr gkictigiap wgivenqedl igrdvvrpyq
      121 tmsnpmsklt vlnsmhshfi ladngttgky gaevklrrql ekhislqkin trigqgvpvv
      181 aliveggpnv isivleylrd tppvpvvvcd gsgrasdila fghkyseegg lineslrdql
      241 lvtiqktfty trtqaqhlfi ilmecmkkke litvfrmgse ghqdidlail tallkganas
      301 apdqlslala wnrvdiarsq ifiygqqwpv gsleqamlda lvldrvdfvk lliengvsmh
      361 rfltisrlee lyntrhgpsn tlyhlvrdvk kreypgfgwi yfkgnlppdy rislidiglv
      421 ieylmggayr cnytrkrfrt lyhnlfgpkr ddiplrrgrk ttkkreeevd idlddpeinh
      481 fpfpfhelmv wavlmkrqkm alffwqhgee amakalvack lckamaheas endmvddisq
      541 elnhnsrdfg qlavelldqs ykqdeqlamk lltyelknws natclqlava akhrdfiaht
      601 csqmlltdmw mgrlrmrkns glkvilgill ppsilslefk nkddmpymsq aqeihlqeke
      661 aeepekptke keeedmelta mlgrnngess rkkdeeevqs khrliplgrk iyefynapiv
      721 kfwfytlayi gylmlfnyiv lvkmerwpst qewivisyif tlgiekmrei lmsepgkllq
      781 kvkvwlqeyw nvtdliaill fsvgmilrlq dqpfrsdgrv iycvniiywy irlldifgvn
      841 kylgpyvmmi gkmmidmmyf viimlvvlms fgvarqailf pneepswkla knifympywm
      901 iygevfadqi dppcgqnetr edgkiiqlpp cktgawivpa imacyllvan illvnlliav
      961 fnntffevks isnqvwkfqr yqlimtfher pvlpppliif shmtmifqhl ccrwrkhesd
     1021 pderdyglkl fitddelkkv hdfeeqciee yfrekddrfn ssnderirvt servenmsmr
     1081 leevnerehs mkaslqtvdi rlaqledlig rmatalerlt gleraesnki rsrtssdctd
     1141 aayivrqssf nsqegntfkl qesidpagee tmsptsptlm prmrshsfys vnmkdkggie
     1201 klesifkers lslhratssh svakepkapa apantlaivp dsrrpsscid iyvsamdelh
     1261 cdidpldnsv nilglgepsf stpvpstaps ssayatlapt drppsrsidf editsmdtrs
     1321 fssdythlpe cqnpwdsepp myhtiersks srylattpfl leeapivksh sfmfspsrsy
     1381 yanfgvpvkt aeytsitdci dtrcvnapqa iadraafpgg lgdkvedltc chpereaels
     1441 hpssdseene akgrratiai ssqegdnser tlsnnitvpk ieransysae epsapyahtr
     1501 ksfsisdkld rqrntaslrn pfqrsksskp egrgdslsmr rlsrtsafqs feskhn
//
LOCUS       NP_001243502             451 aa            linear   PRI 18-MAR-2023
DEFINITION  neuronal acetylcholine receptor subunit alpha-4 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001243502
VERSION     NP_001243502.1
DBSOURCE    REFSEQ: accession NM_001256573.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 451)
  AUTHORS   Nielsen TO, Herlin MK, Linnet KM, Beniczky S, Sommerlund M,
            Granild-Jensen JB and Gregersen PA.
  TITLE     Autosomal dominant sleep-related hypermotor epilepsy caused by a
            previously unreported CHRNA4 variant
  JOURNAL   Eur J Med Genet 65 (3), 104444 (2022)
   PUBMED   35093606
  REMARK    GeneRIF: Autosomal dominant sleep-related hypermotor epilepsy
            caused by a previously unreported CHRNA4 variant.
REFERENCE   2  (residues 1 to 451)
  AUTHORS   Weltzin MM, George AA, Lukas RJ and Whiteaker P.
  TITLE     Sleep-related hypermotor epilepsy associated mutations uncover
            important kinetic roles of alpha4beta2- nicotinic acetylcholine
            receptor intracellular structures
  JOURNAL   PLoS One 16 (3), e0247825 (2021)
   PUBMED   33657187
  REMARK    GeneRIF: Sleep-related hypermotor epilepsy associated mutations
            uncover important kinetic roles of alpha4beta2- nicotinic
            acetylcholine receptor intracellular structures.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 451)
  AUTHORS   Cadieux-Dion M, Meneghini S, Villa C, Toffa DH, Wickstrom R,
            Bouthillier A, Sandvik U, Gustavsson B, Mohamed I, Cossette P,
            Combi R, Becchetti A and Nguyen DK.
  TITLE     Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular
            Epilepsy
  JOURNAL   Can J Neurol Sci 47 (6), 800-809 (2020)
   PUBMED   32536355
  REMARK    GeneRIF: Variants in CHRNB2 and CHRNA4 Identified in Patients with
            Insular Epilepsy.
REFERENCE   4  (residues 1 to 451)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 451)
  AUTHORS   Eggert M, Aichinger E, Pfaffl MW, Steinlein OK and Pfob M.
  TITLE     Nicotinic acetylcholine receptor subunits alpha4 and alpha5
            associated with smoking behaviour and lung cancer are regulated by
            upstream open reading frames
  JOURNAL   PLoS One 8 (7), e66157 (2013)
   PUBMED   23843950
  REMARK    GeneRIF: Nicotinic acetylcholine receptor subunits alpha4 and
            alpha5 associated with smoking behavior and lung cancer are
            regulated by upstream open reading frames.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 451)
  AUTHORS   Phillips,H.A., Scheffer,I.E., Berkovic,S.F., Hollway,G.E.,
            Sutherland,G.R. and Mulley,J.C.
  TITLE     Localization of a gene for autosomal dominant nocturnal frontal
            lobe epilepsy to chromosome 20q 13.2
  JOURNAL   Nat Genet 10 (1), 117-118 (1995)
   PUBMED   7647781
REFERENCE   7  (residues 1 to 451)
  AUTHORS   Kurahashi,H. and Hirose,S.
  TITLE     Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301348
REFERENCE   8  (residues 1 to 451)
  AUTHORS   Pilz AJ, Willer E, Povey S and Abbott CM.
  TITLE     The genes coding for phosphoenolpyruvate carboxykinase-1 (PCK1) and
            neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4)
            map to human chromosome 20, extending the known region of homology
            with mouse chromosome 2
  JOURNAL   Ann Hum Genet 56 (4), 289-293 (1992)
   PUBMED   1492743
REFERENCE   9  (residues 1 to 451)
  AUTHORS   Anand R and Lindstrom J.
  TITLE     Chromosomal localization of seven neuronal nicotinic acetylcholine
            receptor subunit genes in humans
  JOURNAL   Genomics 13 (4), 962-967 (1992)
   PUBMED   1505988
REFERENCE   10 (residues 1 to 451)
  AUTHORS   McLane KE, Wu XD and Conti-Tronconi BM.
  TITLE     Identification of a brain acetylcholine receptor alpha subunit able
            to bind alpha-bungarotoxin
  JOURNAL   J Biol Chem 265 (17), 9816-9824 (1990)
   PUBMED   2351675
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U62433.1, AL121827.34,
            BC096292.1, L35901.1, BC096291.1, AK296430.1 and AB209359.1.
            
            Summary: This gene encodes a nicotinic acetylcholine receptor,
            which belongs to a superfamily of ligand-gated ion channels that
            play a role in fast signal transmission at synapses. These
            pentameric receptors can bind acetylcholine, which causes an
            extensive change in conformation that leads to the opening of an
            ion-conducting channel across the plasma membrane. This protein is
            an integral membrane receptor subunit that can interact with either
            nAChR beta-2 or nAChR beta-4 to form a functional receptor.
            Mutations in this gene cause nocturnal frontal lobe epilepsy type
            1. Polymorphisms in this gene that provide protection against
            nicotine addiction have been described. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Feb
            2012].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and has
            multiple coding region differences, compared to variant 1. These
            differences cause translation initiation at a downstream AUG and
            result in an isoform (2) with a shorter N-terminus, compared to
            isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC096292.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2145743,
                                           SAMEA2146236 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..451
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     Protein         1..451
                     /product="neuronal acetylcholine receptor subunit alpha-4
                     isoform 2"
                     /note="cholinergic receptor, nicotinic, alpha polypeptide
                     4; neuronal acetylcholine receptor subunit alpha-4;
                     neuronal nicotinic acetylcholine receptor alpha-4 subunit;
                     cholinergic receptor, nicotinic, alpha 4 (neuronal);
                     cholinergic receptor, nicotinic alpha 4"
                     /calculated_mol_wt=49741
     Region          <1..66
                     /region_name="LGIC_ECD"
                     /note="extracellular domain (ECD) of Cys-loop
                     neurotransmitter-gated ion channels (also known as
                     ligand-gated ion channel (LGIC)); cl28912"
                     /db_xref="CDD:452896"
     Region          68..92
                     /region_name="TM1 helix"
                     /note="TM1 helix [structural motif]"
                     /db_xref="CDD:349866"
     Region          74..442
                     /region_name="Neur_chan_memb"
                     /note="Neurotransmitter-gated ion-channel transmembrane
                     region; pfam02932"
                     /db_xref="CDD:427062"
     Site            order(100,103,107,110..111,114,118,146,149,152..153,
                     155..157)
                     /site_type="other"
                     /note="pentamer interface [polypeptide binding]"
                     /db_xref="CDD:349866"
     Region          100..121
                     /region_name="TM2 helix"
                     /note="TM2 helix [structural motif]"
                     /db_xref="CDD:349866"
     Region          132..154
                     /region_name="TM3 helix"
                     /note="TM3 helix [structural motif]"
                     /db_xref="CDD:349866"
     Region          <216..320
                     /region_name="PRK14959"
                     /note="DNA polymerase III subunits gamma and tau;
                     Provisional"
                     /db_xref="CDD:184923"
     CDS             1..451
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /coded_by="NM_001256573.2:644..1999"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:1137"
                     /db_xref="HGNC:HGNC:1958"
                     /db_xref="MIM:118504"
ORIGIN      
        1 mkfgswtydk akidlvnmhs rvdqldfwes gewvivdavg tyntrkyecc aeiypditya
       61 fvirrlplfy tinliipcll iscltvlvfy lpsecgekit lcisvllslt vfllliteii
      121 pstslvipli geyllftmif vtlsivitvf vlnvhhrspr thtmptwvrr vfldivprll
      181 lmkrpsvvkd ncrrliesmh kmasaprfwp epegeppats gtqslhppsp sfcvpldvpa
      241 epgpscksps dqlppqqple aekasphpsp gpcrpphgtq apglakarsl svqhmsspge
      301 aveggvrcrs rsiqycvprd daapeadgqa agalasrnth saelpppdqp spckctckke
      361 pssvspsatv ktrstkappp hlplspaltr avegvqyiad hlkaedtdfs vkedwkyvam
      421 vidriflwmf iivcllgtvg lflppwlagm i
//
LOCUS       NP_694578                289 aa            linear   PRI 18-MAR-2023
DEFINITION  BTB/POZ domain-containing protein KCTD7 isoform 1 [Homo sapiens].
ACCESSION   NP_694578
VERSION     NP_694578.1
DBSOURCE    REFSEQ: accession NM_153033.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 289)
  AUTHORS   Wang Y, Cao X, Liu P, Zeng W, Peng R, Shi Q, Feng K, Zhang P, Sun
            H, Wang C and Wang H.
  TITLE     KCTD7 mutations impair the trafficking of lysosomal enzymes through
            CLN5 accumulation to cause neuronal ceroid lipofuscinoses
  JOURNAL   Sci Adv 8 (31), eabm5578 (2022)
   PUBMED   35921411
  REMARK    GeneRIF: KCTD7 mutations impair the trafficking of lysosomal
            enzymes through CLN5 accumulation to cause neuronal ceroid
            lipofuscinoses.
REFERENCE   2  (residues 1 to 289)
  AUTHORS   Narayanan DL, Somashekar PH, Majethia P and Shukla A.
  TITLE     KCTD7-related progressive myoclonic epilepsy: report of three
            Indian families and review of literature
  JOURNAL   Clin Dysmorphol 31 (1), 6-10 (2022)
   PUBMED   34866617
  REMARK    GeneRIF: KCTD7-related progressive myoclonic epilepsy: report of
            three Indian families and review of literature.
            Review article
REFERENCE   3  (residues 1 to 289)
  AUTHORS   Hu K, Li J, Wang Z, Yan Y, Cai Y, Peng B, Huang J, He D, Zhou L, Xu
            Z and Tao Y.
  TITLE     BTB/POZ domain-containing protein 7/hypoxia-inducible factor 1
            alpha signalling axis modulates hepatocellular carcinoma metastasis
  JOURNAL   Clin Transl Med 11 (10), e556 (2021)
   PUBMED   34709740
  REMARK    GeneRIF: BTB/POZ domain-containing protein 7/hypoxia-inducible
            factor 1 alpha signalling axis modulates hepatocellular carcinoma
            metastasis.
REFERENCE   4  (residues 1 to 289)
  AUTHORS   Binaafar S, Garshasbi M, Tavasoli AR, Badv RS, Hosseiny SMM,
            Samanta D, Rabbani B and Mahdieh N.
  TITLE     Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel
            KCTD7 Pathogenic Variants and a Literature Review
  JOURNAL   Dev Neurosci 43 (6), 348-357 (2021)
   PUBMED   34469883
  REMARK    GeneRIF: Nonsyndromic Early-Onset Epileptic Encephalopathies: Two
            Novel KCTD7 Pathogenic Variants and a Literature Review.
            Review article
REFERENCE   5  (residues 1 to 289)
  AUTHORS   Krabichler B, Rostasy K, Baumann M, Karall D, Scholl-Burgi S,
            Schwarzer C, Gautsch K, Spreiz A, Kotzot D, Zschocke J, Fauth C and
            Haberlandt E.
  TITLE     Novel mutation in potassium channel related gene KCTD7 and
            progressive myoclonic epilepsy
  JOURNAL   Ann Hum Genet 76 (4), 326-331 (2012)
   PUBMED   22606975
REFERENCE   6  (residues 1 to 289)
  AUTHORS   Wineinger NE, Patki A, Meyers KJ, Broeckel U, Gu CC, Rao DC,
            Devereux RB, Arnett DK and Tiwari HK.
  TITLE     Genome-wide joint SNP and CNV analysis of aortic root diameter in
            African Americans: the HyperGEN study
  JOURNAL   BMC Med Genomics 4, 4 (2011)
   PUBMED   21223598
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 289)
  AUTHORS   Van Bogaert P, Azizieh R, Desir J, Aeby A, De Meirleir L, Laes JF,
            Christiaens F and Abramowicz MJ.
  TITLE     Mutation of a potassium channel-related gene in progressive
            myoclonic epilepsy
  JOURNAL   Ann Neurol 61 (6), 579-586 (2007)
   PUBMED   17455289
  REMARK    GeneRIF: We found a C to T mutation in exon 2 of the potassium
            channel tetramerization domain containing 7 gene(KCTD7)in a
            progressive myoclonic epilepsy family affecting a highly conserved
            segment of the predicted protein changing an arginine codon to a
            stop.
REFERENCE   8  (residues 1 to 289)
  AUTHORS   Choy KW, Wang CC, Ogura A, Lau TK, Rogers MS, Ikeo K, Gojobori T,
            Lam DS and Pang CP.
  TITLE     Genomic annotation of 15,809 ESTs identified from pooled early
            gestation human eyes
  JOURNAL   Physiol Genomics 25 (1), 9-15 (2006)
   PUBMED   16368877
REFERENCE   9  (residues 1 to 289)
  AUTHORS   Mole,S.E. and Williams,R.E.
  TITLE     Neuronal Ceroid-Lipofuscinoses - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301601
REFERENCE   10 (residues 1 to 289)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006001.2 and AK056631.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the potassium channel
            tetramerization domain-containing protein family. Family members
            are identified on a structural basis and contain an amino-terminal
            domain similar to the T1 domain present in the voltage-gated
            potassium channel. Mutations in this gene have been associated with
            progressive myoclonic epilepsy-3. Alternative splicing results in
            multiple transcript variants.[provided by RefSeq, Jan 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.209964.1,
                                           SRR1660803.229393.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000639828.2/ ENSP00000492240.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..289
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.21"
     Protein         1..289
                     /product="BTB/POZ domain-containing protein KCTD7 isoform
                     1"
                     /note="BTB/POZ domain-containing protein KCTD7; potassium
                     channel tetramerisation domain containing 7"
                     /calculated_mol_wt=33001
     Region          1..35
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MP8.1)"
     Region          48..139
                     /region_name="BTB_POZ_KCTD7"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in potassium
                     channel tetramerization domain-containing protein 7
                     (KCTD7); cd18366"
                     /db_xref="CDD:349675"
     CDS             1..289
                     /gene="KCTD7"
                     /gene_synonym="CLN14; EPM3"
                     /coded_by="NM_153033.5:185..1054"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5534.1"
                     /db_xref="GeneID:154881"
                     /db_xref="HGNC:HGNC:21957"
                     /db_xref="MIM:611725"
ORIGIN      
        1 mvvvtgrepd srrqdgamss sdaeddflep atptatqagh alpllpqefp evvplnigga
       61 hfttrlstlr cyedtmlaam fsgrhyiptd segryfidrd gthfgdvlnf lrsgdlppre
      121 rvravykeaq yyaigplleq lenmqplkge kvrqaflglm pyykdhleri veiarlravq
      181 rkarfaklkv cvfkeempit pyecpllnsl rfersesdgq lfehhcevdv sfgpweavad
      241 vydllhclvt dlsaqgltvd hqcigvcdkh lvnhyyckrp iyefkitww
//
LOCUS       NP_001121189            3277 aa            linear   PRI 18-MAR-2023
DEFINITION  laminin subunit alpha-3 isoform 3 precursor [Homo sapiens].
ACCESSION   NP_001121189
VERSION     NP_001121189.2
DBSOURCE    REFSEQ: accession NM_001127717.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 3277)
  AUTHORS   Wang R, Sun L, Habulieti X, Liu J, Guo K, Yang X, Ma D and Zhang X.
  TITLE     Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5
            underlying epidermolysis bullosa in five Chinese families
  JOURNAL   Front Med 16 (5), 808-814 (2022)
   PUBMED   35314946
  REMARK    GeneRIF: Novel variants in LAMA3 and COL7A1 and recurrent variant
            in KRT5 underlying epidermolysis bullosa in five Chinese families.
REFERENCE   2  (residues 1 to 3277)
  AUTHORS   Hamill KJ, Langbein L, Jones JC and McLean WH.
  TITLE     Identification of a novel family of laminin N-terminal alternate
            splice isoforms: structural and functional characterization
  JOURNAL   J Biol Chem 284 (51), 35588-35596 (2009)
   PUBMED   19773554
  REMARK    GeneRIF: immunofluorescence analyses revealed a basement membrane
            staining in epithelial tissue for LaNt alpha3 and LaNt alpha3
            localized along the substratum-associated surface of cultured
            keratinocytes.
REFERENCE   3  (residues 1 to 3277)
  AUTHORS   Kariya Y, Yasuda C, Nakashima Y, Ishida K, Tsubota Y and Miyazaki
            K.
  TITLE     Characterization of laminin 5B and NH2-terminal proteolytic
            fragment of its alpha3B chain: promotion of cellular adhesion,
            migration, and proliferation
  JOURNAL   J Biol Chem 279 (23), 24774-24784 (2004)
   PUBMED   15044476
  REMARK    GeneRIF: Characterization of laminin 5B and NH2-terminal
            proteolytic fragment of its alpha3B chain
REFERENCE   4  (residues 1 to 3277)
  AUTHORS   McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM,
            Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T,
            Phillips R, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B,
            Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ and
            McGrath JA.
  TITLE     An unusual N-terminal deletion of the laminin alpha3a isoform leads
            to the chronic granulation tissue disorder laryngo-onycho-cutaneous
            syndrome
  JOURNAL   Hum Mol Genet 12 (18), 2395-2409 (2003)
   PUBMED   12915477
  REMARK    Erratum:[Hum Mol Genet. 2004 Feb 1;13(3):365. Phillips Rodney J
            [corrected to Phillips Roderic J]]
REFERENCE   5  (residues 1 to 3277)
  AUTHORS   Doliana R, Bellina I, Bucciotti F, Mongiat M, Perris R and
            Colombatti A.
  TITLE     The human alpha3b is a 'full-sized' laminin chain variant with a
            more widespread tissue expression than the truncated alpha3a
  JOURNAL   FEBS Lett 417 (1), 65-70 (1997)
   PUBMED   9395076
REFERENCE   6  (residues 1 to 3277)
  AUTHORS   Vidal F, Baudoin C, Miquel C, Galliano MF, Christiano AM, Uitto J,
            Ortonne JP and Meneguzzi G.
  TITLE     Cloning of the laminin alpha 3 chain gene (LAMA3) and
            identification of a homozygous deletion in a patient with Herlitz
            junctional epidermolysis bullosa
  JOURNAL   Genomics 30 (2), 273-280 (1995)
   PUBMED   8586427
REFERENCE   7  (residues 1 to 3277)
  AUTHORS   Rousselle P, Golbik R, van der Rest M and Aumailley M.
  TITLE     Structural requirement for cell adhesion to kalinin (laminin-5)
  JOURNAL   J Biol Chem 270 (23), 13766-13770 (1995)
   PUBMED   7775432
REFERENCE   8  (residues 1 to 3277)
  AUTHORS   Kivirikko S, McGrath JA, Baudoin C, Aberdam D, Ciatti S, Dunnill
            MG, McMillan JR, Eady RA, Ortonne JP, Meneguzzi G et al.
  TITLE     A homozygous nonsense mutation in the alpha 3 chain gene of laminin
            5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa
  JOURNAL   Hum Mol Genet 4 (5), 959-962 (1995)
   PUBMED   7633458
REFERENCE   9  (residues 1 to 3277)
  AUTHORS   Ryan MC, Tizard R, VanDevanter DR and Carter WG.
  TITLE     Cloning of the LamA3 gene encoding the alpha 3 chain of the
            adhesive ligand epiligrin. Expression in wound repair
  JOURNAL   J Biol Chem 269 (36), 22779-22787 (1994)
   PUBMED   8077230
REFERENCE   10 (residues 1 to 3277)
  AUTHORS   Pfendner,E.G. and Lucky,A.W.
  TITLE     Junctional Epidermolysis Bullosa
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301304
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK096422.1, AY327116.1,
            KF456351.1, AC010754.10 and AA001432.1.
            On Dec 12, 2014 this sequence version replaced NP_001121189.1.
            
            Summary: The protein encoded by this gene belongs to the laminin
            family of secreted molecules. Laminins are heterotrimeric molecules
            that consist of alpha, beta, and gamma subunits that assemble
            through a coiled-coil domain. Laminins are essential for formation
            and function of the basement membrane and have additional functions
            in regulating cell migration and mechanical signal transduction.
            This gene encodes an alpha subunit and is responsive to several
            epithelial-mesenchymal regulators including keratinocyte growth
            factor, epidermal growth factor and insulin-like growth factor.
            Mutations in this gene have been identified as the cause of Herlitz
            type junctional epidermolysis bullosa and laryngoonychocutaneous
            syndrome. Alternative splicing and alternative promoter usage
            result in multiple transcript variants. [provided by RefSeq, Dec
            2014].
            
            Transcript Variant: This variant (3, also called b2) lacks an
            in-frame exon in the coding region compared to variant 1. It
            encodes isoform 3 (also known as alpha3b2), which is shorter than
            isoform 1. Variants 1 and 3 encode 'b' isoforms.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY327116.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..3277
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q11.2"
     Protein         1..3277
                     /product="laminin subunit alpha-3 isoform 3 precursor"
                     /note="laminin-5 alpha 3 chain; epiligrin 170 kda subunit;
                     epiligrin alpha 3 subunit; nicein 150kD subunit; kalinin
                     165kD subunit; BM600 150kD subunit; laminin-5 subunit
                     alpha; laminin-6 subunit alpha; laminin-7 subunit alpha;
                     nicein subunit alpha; kalinin subunit alpha; laminin,
                     alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD),
                     epilegrin); laminin A3; laminin 5, alpha-3 subunit; LAM3,
                     alpha-3 subunit"
                     /calculated_mol_wt=356598
     sig_peptide     1..36
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3604
     Region          46..297
                     /region_name="LamNT"
                     /note="Laminin N-terminal domain (domain VI); smart00136"
                     /db_xref="CDD:214532"
     Region          299..344
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(299,301,311,319,321,330)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          356..423
                     /region_name="Laminin_EGF"
                     /note="Laminin EGF domain; pfam00053"
                     /db_xref="CDD:395007"
     Site            order(356,358,365,390,393,402)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          425..465
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(426,428,436,443,445,454)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          491..538
                     /region_name="Laminin_EGF"
                     /note="Laminin EGF domain; pfam00053"
                     /db_xref="CDD:395007"
     Site            order(491,493,503,509,511,520)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          535..577
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(536,538,548,555,557,566)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          585..628
                     /region_name="Laminin_EGF"
                     /note="Laminin EGF domain; pfam00053"
                     /db_xref="CDD:395007"
     Region          631..682
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(631,633,645,652,654,663)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          684..727
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(684,686,696,703,705,714)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          1266..1314
                     /region_name="Laminin_EGF"
                     /note="Laminin EGF domain; pfam00053"
                     /db_xref="CDD:395007"
     Site            order(1266,1268,1278,1285,1287,1296)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          1356..1407
                     /region_name="Laminin_EGF"
                     /note="Laminin EGF domain; pfam00053"
                     /db_xref="CDD:395007"
     Site            order(1356,1358,1371,1378,1380,1389)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          1404..1454
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(1405,1407,1417,1424,1426,1435)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          1518..1652
                     /region_name="Laminin_B"
                     /note="Laminin B (Domain IV); pfam00052"
                     /db_xref="CDD:425443"
     Region          1686..1732
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(1687,1689,1696,1703,1706,1715)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          1734..1784
                     /region_name="Laminin_EGF"
                     /note="Laminin EGF domain; pfam00053"
                     /db_xref="CDD:395007"
     Site            order(1734,1736,1746,1755,1757,1766)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          1847..2048
                     /region_name="Laminin_I"
                     /note="Laminin Domain I; pfam06008"
                     /db_xref="CDD:310534"
     Region          <2003..2320
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          2232..2360
                     /region_name="Laminin_II"
                     /note="Laminin Domain II; pfam06009"
                     /db_xref="CDD:368703"
     Region          2379..2514
                     /region_name="LamG"
                     /note="Laminin G domain; smart00282"
                     /db_xref="CDD:214598"
     Region          2546..2686
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cd00110"
                     /db_xref="CDD:238058"
     Region          2713..2845
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cd00110"
                     /db_xref="CDD:238058"
     Region          2938..3078
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cd00110"
                     /db_xref="CDD:238058"
     Region          3102..3253
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cd00110"
                     /db_xref="CDD:238058"
     CDS             1..3277
                     /gene="LAMA3"
                     /gene_synonym="BM600; E170; JEB2A; JEB2B; JEB2C; LAMNA;
                     LOCS"
                     /coded_by="NM_001127717.4:232..10065"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS45838.1"
                     /db_xref="GeneID:3909"
                     /db_xref="HGNC:HGNC:6483"
                     /db_xref="MIM:600805"
ORIGIN      
        1 maaaarprgr algpvlpptp llllvlrvlp acgatardpg aaaglslhpt yfnlaeaari
       61 watatcgerg pgegrpqpel ycklvggpta pgsghtiqgq fcdycnsedp rkahpvtnai
      121 dgserwwqsp plssgtqynr vnltldlgql fhvayilikf ansprpdlwv lersvdfgst
      181 yspwqyfahs kvdclkefgr eanmavtrdd dvlcvteysr ivplengevv vslingrpga
      241 knftfshtlr eftkatnirl rflrtntllg hliskaqrdp tvtrryyysi kdisiggqcv
      301 cnghaevcni nnpeklfrce cqhhtcgetc drcctgynqr rwrpaaweqs heceacnchg
      361 hasncyydpd verqqaslnt qgiyagggvc incqhntagv nceqcakgyy rpygvpvdap
      421 dgcipcscdp ehadgceqgs grchckpnfh gdncekcaig yynfpfclri pifpvstpss
      481 edpvagdikg cdcnlegvlp eicdahgrcl crpgvegprc dtcrsgfysf picqacwcsa
      541 lgsyqmpcss vtgqcecrpg vtgqrcdrcl sgaydfphcq gsssacdpag tinsnlgycq
      601 cklhvegptc srckllywnl dkenpsgcse ckchkagtvs gtgecrqgdg dchckshvgg
      661 dscdtcedgy faleksnyfg cqgcqcdigg alssmcsgps gvcqcrehvv gkvcqrpenn
      721 yyfpdlhhmk yeiedgstpn grdlrfgfdp lafpefswrg yaqmtsvqnd vritlnvgks
      781 sgslfrvilr yvnpgteavs ghitiypswg aaqskeiifl pskepafvtv pgngfadpfs
      841 itpgiwvaci kaegvlldyl vllprdyyea svlqlpvtep cayagppqen cllyqhlpvt
      901 rfpctlacea rhflldgepr pvavrqptpa hpvmvdlsgr evelhlrlri pqvghyvvvv
      961 eysteaaqlf vvdvnvkssg svlagqvniy scnysvlcrs avidhmsria myelladadi
     1021 qlkghmarfl lhqvciipie efsaeyvrpq vhciasygrf vnqsatcvsl ahetpptali
     1081 ldvlsgrpfp hlpqqsspsv dvlpgvtlka pqnqvtlrgr vphlgryvfv ihfyqaahpt
     1141 fpaqvsvdgg wpragsfhas fcphvlgcrd qviaegqief disepevaat vkvpegkslv
     1201 lvrvlvvpae nydyqilhkk smdkslefit ncgknsfyld pqtasrfckn sarslvafyh
     1261 kgalpcechp tgatgphcsp eggqcpcqpn vigrqctrca tghygfprck pcscgrrlce
     1321 emtgqcrcpp rtvrpqcevc ethsfsfhpm agcegcncsr rgtieaampe cdrdsgqcrc
     1381 kpritgrqcd rcasgfyrfp ecvpcncnrd gtepgvcdpg tgaclckenv egtecnvcre
     1441 gsfhldpanl kgctscfcfg vnnqchsshk rrtkfvdmlg whletadrvd ipvsfnpgsn
     1501 smvadlqelp atihsaswva ptsylgdkvs syggyltyqa ksfglpgdmv llekkpdvql
     1561 tgqhmsiiye etntprpdrl hhgrvhvveg nfrhassrap vsreelmtvl srladvriqg
     1621 lyftetqrlt lsevgleeas dtgsgriala veicacppay agdscqgcsp gyyrdhkgly
     1681 tgrcvpcncn ghsnqcqdgs gicvncqhnt agehcercqe gyygnavhgs cracpcphtn
     1741 sfatgcvvng gdvrcsckag ytgtqcerca pgyfgnpqkf ggscqpcscn sngqlgschp
     1801 ltgdcinqep kdsspaeecd dcdscvmtll ndlatmgeql rlvksqlqgl sasaglleqm
     1861 rhmetqakdl rnqllnyrsa isnhgskieg lereltdlnq efetlqekaq vnsrkaqtln
     1921 nnvnratqsa keldvkiknv irnvhmlnri rtwqkthqge nnglansird slneyeakls
     1981 dlrarlqeaa aqakqangln qeneralgai qrqvkeinsl qsdftkyltt adssllqtni
     2041 alqlmeksqk eyeklaasln earqelsdkv relsrsagkt slveeaekha rslqelakql
     2101 eeikrnasgd elvrcavdaa tayenilnai kaaedaanra asasesalqt vikedlprka
     2161 ktlssnsdkl lneakmtqkk lkqevspaln nlqqtlnivt vqkevidtnl ttlrdglhgi
     2221 qrgdidamis saksmvrkan ditdevldgl npiqtdveri kdtygrtqne dfkkaltdad
     2281 nsvnkltnkl pdlwrkiesi nqqllplgni sdnmdrirel iqqardaask vavpmrfngk
     2341 sgvevrlpnd ledlkgytsl slflqrpnsr enggtenmfv mylgnkdasr dyigmavvdg
     2401 qltcvynlgd reaelqvdqi ltksetkeav mdrvkfqriy qfarlnytkg atsskpetpg
     2461 vydmdgrnsn tllnldpenv vfyvggyppd fklpsrlsfp pykgcieldd lnenvlslyn
     2521 fkktfnlntt evepcrrrke esdknyfegt gyarvptqph apiptfgqti qttvdrgllf
     2581 faengdrfis lniedgklmv ryklnselpk ergvgdainn grdhsiqiki gklqkrmwin
     2641 vdvqntiidg evfdfstyyl ggipiairer fnistpafrg cmknlkktsg vvrlndtvgv
     2701 tkkcsedwkl vrsasfsrgg qlsftdlglp ptdhlqasfg fqtfqpsgil ldhqtwtrnl
     2761 qvtledgyie lstsdsggpi fkspqtymdg llhyvsvisd nsglrllidd qllrnskrlk
     2821 hisssrqslr lggsnfegci snvfvqrlsl spevldltsn slkrdvslgg cslnkppflm
     2881 llkgstrfnk tktfrinqll qdtpvasprs vkvwqdacsp lpktqanhga lqfgdiptsh
     2941 llfklpqell kprsqfavdm qttssrglvf htgtknsfma lylskgrlvf algtdgkklr
     3001 ikskekcndg kwhtvvfghd gekgrlvvdg lraregslpg nstisirapv ylgsppsgkp
     3061 kslptnsfvg clknfqldsk plytpsssfg vssclggple kgiyfseegg hvvlahsvll
     3121 gpefklvfsi rprsltgili higsqpgkhl cvyleagkvt asmdsgaggt stsvtpkqsl
     3181 cdgqwhsvav tikqhilhle ldtdssytag qipfppastq eplhlggapa nlttlripvw
     3241 ksffgclrni hvnhipvpvt ealevqgpvs lngcpdq
//
LOCUS       NP_001182234              92 aa            linear   PRI 18-MAR-2023
DEFINITION  BBSome-interacting protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001182234 XP_001716161 XP_001725854 XP_001725855 XP_001725856
            XP_001726074 XP_001726075 XP_001726076
VERSION     NP_001182234.1
DBSOURCE    REFSEQ: accession NM_001195305.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 92)
  AUTHORS   Woodsmith J, Apelt L, Casado-Medrano V, Ozkan Z, Timmermann B and
            Stelzl U.
  TITLE     Protein interaction perturbation profiling at amino-acid resolution
  JOURNAL   Nat Methods 14 (12), 1213-1221 (2017)
   PUBMED   29039417
REFERENCE   2  (residues 1 to 92)
  AUTHORS   Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller
            J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C,
            Strahle U, Nachury MV and Dollfus H.
  TITLE     Exome sequencing of Bardet-Biedl syndrome patient identifies a null
            mutation in the BBSome subunit BBIP1 (BBS18)
  JOURNAL   J Med Genet 51 (2), 132-136 (2014)
   PUBMED   24026985
  REMARK    GeneRIF: Identification of BBIP1 as the 18th BBS gene (BBS18),
            BBSome assembly may represent a unifying pathomechanism for
            Bardet-Biedl syndrome.
REFERENCE   3  (residues 1 to 92)
  AUTHORS   Zhang Q, Yu D, Seo S, Stone EM and Sheffield VC.
  TITLE     Intrinsic protein-protein interaction-mediated and
            chaperonin-assisted sequential assembly of stable bardet-biedl
            syndrome protein complex, the BBSome
  JOURNAL   J Biol Chem 287 (24), 20625-20635 (2012)
   PUBMED   22500027
REFERENCE   4  (residues 1 to 92)
  AUTHORS   Jin H, White SR, Shida T, Schulz S, Aguiar M, Gygi SP, Bazan JF and
            Nachury MV.
  TITLE     The conserved Bardet-Biedl syndrome proteins assemble a coat that
            traffics membrane proteins to cilia
  JOURNAL   Cell 141 (7), 1208-1219 (2010)
   PUBMED   20603001
REFERENCE   5  (residues 1 to 92)
  AUTHORS   Jin H and Nachury MV.
  TITLE     The BBSome
  JOURNAL   Curr Biol 19 (12), R472-R473 (2009)
   PUBMED   19549489
REFERENCE   6  (residues 1 to 92)
  AUTHORS   Loktev AV, Zhang Q, Beck JS, Searby CC, Scheetz TE, Bazan JF,
            Slusarski DC, Sheffield VC, Jackson PK and Nachury MV.
  TITLE     A BBSome subunit links ciliogenesis, microtubule stability, and
            acetylation
  JOURNAL   Dev Cell 15 (6), 854-865 (2008)
   PUBMED   19081074
REFERENCE   7  (residues 1 to 92)
  AUTHORS   Forsyth,R. and Gunay-Aygun,M.
  TITLE     Bardet-Biedl Syndrome Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301537
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC073157.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes one of eight proteins that form the
            BBSome complex and is essential for its assembly. The BBSome
            complex is involved in trafficking signal receptors to and from the
            cilia. Mutations in this gene result in Bardet-Biedl syndrome 18.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Oct 2014].
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            3' coding region compared to variant 1, which results in a
            frameshift. The resulting protein (isoform 2) is shorter and has a
            distinct C-terminus compared to isoform 1. Variants 2 and 3 encode
            the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC073157.1, AK025724.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000448814.7/ ENSP00000436622.2
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..92
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.2"
     Protein         1..92
                     /product="BBSome-interacting protein 1 isoform 2"
                     /note="BBSome-interacting protein of 10 kDa; UPF0604
                     protein"
                     /calculated_mol_wt=10375
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MTZ0.2)"
     Region          23..85
                     /region_name="BBIP10"
                     /note="Cilia BBSome complex subunit 10; pfam14777"
                     /db_xref="CDD:434202"
     CDS             1..92
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /coded_by="NM_001195305.3:117..395"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS55727.1"
                     /db_xref="GeneID:92482"
                     /db_xref="HGNC:HGNC:28093"
                     /db_xref="MIM:613605"
ORIGIN      
        1 mlkaaakrpe lsgkntisnn sdmaevksmf revlpkqgpl fvedimtmvl ckpkllplks
       61 ltleklekmh qaaqntirqq emaekdqrqi th
//
LOCUS       NP_001304160             314 aa            linear   PRI 19-MAR-2023
DEFINITION  mitochondrial carrier homolog 2 isoform 1x [Homo sapiens].
ACCESSION   NP_001304160
VERSION     NP_001304160.1
DBSOURCE    REFSEQ: accession NM_001317231.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 314)
  AUTHORS   Fischer JA, Monroe TO, Pesce LL, Sawicki KT, Quattrocelli M, Bauer
            R, Kearns SD, Wolf MJ, Puckelwartz MJ and McNally EM.
  TITLE     Opposing effects of genetic variation in MTCH2 for obesity versus
            heart failure
  JOURNAL   Hum Mol Genet 32 (1), 15-29 (2023)
   PUBMED   35904451
  REMARK    GeneRIF: Opposing effects of genetic variation in MTCH2 for obesity
            versus heart failure.
REFERENCE   2  (residues 1 to 314)
  AUTHORS   Guna A, Stevens TA, Inglis AJ, Replogle JM, Esantsi TK, Muthukumar
            G, Shaffer KCL, Wang ML, Pogson AN, Jones JJ, Lomenick B, Chou TF,
            Weissman JS and Voorhees RM.
  TITLE     MTCH2 is a mitochondrial outer membrane protein insertase
  JOURNAL   Science 378 (6617), 317-322 (2022)
   PUBMED   36264797
REFERENCE   3  (residues 1 to 314)
  AUTHORS   Labbe K, Mookerjee S, Le Vasseur M, Gibbs E, Lerner C and Nunnari
            J.
  TITLE     The modified mitochondrial outer membrane carrier MTCH2 links
            mitochondrial fusion to lipogenesis
  JOURNAL   J Cell Biol 220 (11) (2021)
   PUBMED   34586346
  REMARK    GeneRIF: The modified mitochondrial outer membrane carrier MTCH2
            links mitochondrial fusion to lipogenesis.
REFERENCE   4  (residues 1 to 314)
  AUTHORS   Yuan Q, Yang W, Zhang S, Li T, Zuo M, Zhou X, Li J, Li M, Xia X,
            Chen M and Liu Y.
  TITLE     Inhibition of mitochondrial carrier homolog 2 (MTCH2) suppresses
            tumor invasion and enhances sensitivity to temozolomide in
            malignant glioma
  JOURNAL   Mol Med 27 (1), 7 (2021)
   PUBMED   33509092
  REMARK    GeneRIF: Inhibition of mitochondrial carrier homolog 2 (MTCH2)
            suppresses tumor invasion and enhances sensitivity to temozolomide
            in malignant glioma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 314)
  AUTHORS   Eswarappa SM, Potdar AA, Koch WJ, Fan Y, Vasu K, Lindner D, Willard
            B, Graham LM, DiCorleto PE and Fox PL.
  TITLE     Programmed translational readthrough generates antiangiogenic
            VEGF-Ax
  JOURNAL   Cell 157 (7), 1605-1618 (2014)
   PUBMED   24949972
REFERENCE   6  (residues 1 to 314)
  AUTHORS   Renstrom F, Payne F, Nordstrom A, Brito EC, Rolandsson O, Hallmans
            G, Barroso I, Nordstrom P and Franks PW.
  CONSRTM   GIANT Consortium
  TITLE     Replication and extension of genome-wide association study results
            for obesity in 4923 adults from northern Sweden
  JOURNAL   Hum Mol Genet 18 (8), 1489-1496 (2009)
   PUBMED   19164386
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 314)
  AUTHORS   Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM,
            Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon
            HN, McCarroll SA, Papadakis K, Qi L, Randall JC, Roccasecca RM,
            Sanna S, Scheet P, Weedon MN, Wheeler E, Zhao JH, Jacobs LC,
            Prokopenko I, Soranzo N, Tanaka T, Timpson NJ, Almgren P, Bennett
            A, Bergman RN, Bingham SA, Bonnycastle LL, Brown M, Burtt NP,
            Chines P, Coin L, Collins FS, Connell JM, Cooper C, Smith GD,
            Dennison EM, Deodhar P, Elliott P, Erdos MR, Estrada K, Evans DM,
            Gianniny L, Gieger C, Gillson CJ, Guiducci C, Hackett R, Hadley D,
            Hall AS, Havulinna AS, Hebebrand J, Hofman A, Isomaa B, Jacobs KB,
            Johnson T, Jousilahti P, Jovanovic Z, Khaw KT, Kraft P, Kuokkanen
            M, Kuusisto J, Laitinen J, Lakatta EG, Luan J, Luben RN, Mangino M,
            McArdle WL, Meitinger T, Mulas A, Munroe PB, Narisu N, Ness AR,
            Northstone K, O'Rahilly S, Purmann C, Rees MG, Ridderstrale M, Ring
            SM, Rivadeneira F, Ruokonen A, Sandhu MS, Saramies J, Scott LJ,
            Scuteri A, Silander K, Sims MA, Song K, Stephens J, Stevens S,
            Stringham HM, Tung YC, Valle TT, Van Duijn CM, Vimaleswaran KS,
            Vollenweider P, Waeber G, Wallace C, Watanabe RM, Waterworth DM,
            Watkins N, Witteman JC, Zeggini E, Zhai G, Zillikens MC, Altshuler
            D, Caulfield MJ, Chanock SJ, Farooqi IS, Ferrucci L, Guralnik JM,
            Hattersley AT, Hu FB, Jarvelin MR, Laakso M, Mooser V, Ong KK,
            Ouwehand WH, Salomaa V, Samani NJ, Spector TD, Tuomi T, Tuomilehto
            J, Uda M, Uitterlinden AG, Wareham NJ, Deloukas P, Frayling TM,
            Groop LC, Hayes RB, Hunter DJ, Mohlke KL, Peltonen L, Schlessinger
            D, Strachan DP, Wichmann HE, McCarthy MI, Boehnke M, Barroso I,
            Abecasis GR and Hirschhorn JN.
  CONSRTM   Wellcome Trust Case Control Consortium; Genetic Investigation of
            ANthropometric Traits Consortium
  TITLE     Six new loci associated with body mass index highlight a neuronal
            influence on body weight regulation
  JOURNAL   Nat Genet 41 (1), 25-34 (2009)
   PUBMED   19079261
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   8  (residues 1 to 314)
  AUTHORS   Grinberg M, Schwarz M, Zaltsman Y, Eini T, Niv H, Pietrokovski S
            and Gross A.
  TITLE     Mitochondrial carrier homolog 2 is a target of tBID in cells
            signaled to die by tumor necrosis factor alpha
  JOURNAL   Mol Cell Biol 25 (11), 4579-4590 (2005)
   PUBMED   15899861
  REMARK    GeneRIF: Mtch2 is a mitochondrial target of tBID and possibly
            participates in the mitochondrial apoptotic program.
REFERENCE   9  (residues 1 to 314)
  AUTHORS   Yerushalmi GM, Leibowitz-Amit R, Shaharabany M and Tsarfaty I.
  TITLE     Met-HGF/SF signal transduction induces mimp, a novel mitochondrial
            carrier homologue, which leads to mitochondrial depolarization
  JOURNAL   Neoplasia 4 (6), 510-522 (2002)
   PUBMED   12407445
REFERENCE   10 (residues 1 to 314)
  AUTHORS   Beier H and Grimm M.
  TITLE     Misreading of termination codons in eukaryotes by natural nonsense
            suppressor tRNAs
  JOURNAL   Nucleic Acids Res 29 (23), 4767-4782 (2001)
   PUBMED   11726686
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313032.1, AY380792.1 and
            AC104942.5.
            
            Summary: This gene encodes a member of the SLC25 family of
            nuclear-encoded transporters that are localized in the inner
            mitochondrial membrane. Members of this superfamily are involved in
            many metabolic pathways and cell functions. Genome-wide association
            studies in human have identified single-nucleotide polymorphisms in
            several loci associated with obesity. This gene is one such locus,
            which is highly expressed in white adipose tissue and adipocytes,
            and thought to play a regulatory role in adipocyte differentiation
            and biology. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. A recent study
            showed this gene to be an authentic stop codon readthrough target
            that can produce two isoforms from the same mRNA by use of
            alternative in-frame translation termination codons. [provided by
            RefSeq, Dec 2017].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes two isoforms, which result from the use of
            alternative in-frame translation termination codons. The shorter
            isoform (1) results from translation termination at the upstream
            UGA stop codon, while the longer isoform (1x) results from UGA stop
            codon readthrough to the downstream UAG termination codon. This
            RefSeq represents the longer, C-terminally extended isoform (1x).
            As the UGA stop codon has been reported to specify several
            alternative amino acids (tryptophan, cysteine, arginine and
            serine), its location in the longer isoform is denoted by an 'X'.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY380792.1, AK223097.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            stop codon readthrough             :: PMID: 24949972
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..314
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..314
                     /product="mitochondrial carrier homolog 2 isoform 1x"
                     /note="2310034D24Rik; met-induced mitochondrial protein;
                     mitochondrial carrier homolog 2; solute carrier family 25,
                     member 50"
                     /calculated_mol_wt=34206
     Region          128..>192
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     CDS             1..314
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /coded_by="NM_001317231.2:95..1039"
                     /note="isoform 1x is encoded by transcript variant 1"
                     /db_xref="GeneID:23788"
                     /db_xref="HGNC:HGNC:17587"
                     /db_xref="MIM:613221"
ORIGIN      
        1 madaasqvll gsgltilsqp lmyvkvliqv gyeplpptig rnifgrqvcq lpglfsyaqh
       61 iasidgrrgl ftgltprlcs gvlgtvvhgk vlqhyqesdk geelgpgnvq kevsssfdhv
      121 ikettremia rsaatlithp fhvitlrsmv qfigreskyc glcdsiitiy reegilgffa
      181 glvprllgdi lslwlcnsla ylvntyalds gvstmnemks ysqavtgffa smltypfvlv
      241 snlmavnncg laggcppysp iytswidcwc mlqkegnmsr gnslffrkvp fgktyccdlk
      301 mlixrcgagt vtfl
//
LOCUS       XP_005270565             407 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 362 isoform X3 [Homo sapiens].
ACCESSION   XP_005270565
VERSION     XP_005270565.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005270508.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..407
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..407
                     /product="zinc finger protein 362 isoform X3"
                     /calculated_mol_wt=44328
     Region          <14..>112
                     /region_name="PRK14971"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237874"
     Region          216..236
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          228..253
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          242..264
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          244..264
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(249,251,253,255..256,259..260,263,277,279,283..284,
                     287..288,291,307,309,311,313..314,317..318,321)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          256..281
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          272..292
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <294..346
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          300..322
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          330..350
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          362..380
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..407
                     /gene="ZNF362"
                     /gene_synonym="lin-29; RN"
                     /coded_by="XM_005270508.6:1039..2262"
                     /db_xref="GeneID:149076"
                     /db_xref="HGNC:HGNC:18079"
ORIGIN      
        1 maeprfnnpy fwpppptmps qldnlvlink ikeqlmaeki rpphlpptsa ssqqpllvpp
       61 apaessqavm slpklqqvpg lhpqavpqpd valharpats tvtglglstr tpsvstsess
      121 agagtgtgts tpstptttsq srliassptl isgitsppll dsiktiqghg llgppkserg
      181 rkkikaenpg gppvlvvpyp ilasgetake gktyrckvcp ltfftksemq ihskshteak
      241 phkcphcsks fanasylaqh lrihlgvkpy hcsycdksfr qlshlqqhtr ihtgdrpykc
      301 phpgcekaft qlsnlqshqr qhnkdkpykc pncyraysds aslqihlsah aikhakaycc
      361 smcgraytse tylmkhmskh tvvehlvshh spqrtespgi pvrisli
//
LOCUS       XP_047303859             725 aa            linear   PRI 20-MAR-2023
DEFINITION  consortin isoform X2 [Homo sapiens].
ACCESSION   XP_047303859
VERSION     XP_047303859.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447903.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..725
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..725
                     /product="consortin isoform X2"
                     /calculated_mol_wt=79466
     Region          612..723
                     /region_name="Consortin_C"
                     /note="Consortin C-terminus; pfam15281"
                     /db_xref="CDD:434594"
     CDS             1..725
                     /gene="CNST"
                     /gene_synonym="C1orf71; PPP1R64"
                     /coded_by="XM_047447903.1:259..2436"
                     /db_xref="GeneID:163882"
                     /db_xref="HGNC:HGNC:26486"
                     /db_xref="MIM:613439"
ORIGIN      
        1 mddsdtptyy lqiepqdgch pgdsversvt clpsasdene nqldgdgheh ltssdsamgk
       61 pqvseqdsln nnesctlsce vaagenlqnt lceasrdeqa flgkdkkipg krsprskkgt
      121 akkippglfs gdiaplmqek vlsavtyavd deeaaevnan eqpeapklvl qslfslirge
      181 veqldsralp lclhqiaesy fqeedyekam kfiqlerlyh eqllanlsai qeqwetkwkt
      241 vqphtvtalr nsekgfnged ferltkicat hqdpllskhk iaaveksqer kcstqllvse
      301 dpkeggattk esesktclgt esskesqhtv eplgsspcch qmdvqtdsps lsvtagkdhm
      361 eellcsaeat lalhtqsset agspsgpdss edaceddsrl qlaqteacqd variegiaed
      421 pkvflssksk teplispgcd rippaliseg kysqaqrkel rlplrdasea lptdqlenne
      481 lnelqqpdlt dsdgkspqaq adsdgsenvl cgnnqisdlg illpevcmap eekgdkddql
      541 nketedylns llegclkdte dslsyednqd ddsdllqdls peeasyslqe nlpsdescls
      601 lddlakriei aevvpteglv silkkrndtv gdhpaqmqhk pskrrvrfqe iddsldqdev
      661 gggscillvl lciatvflsv ggtalyctfg dmespvctdf adnmdfyytk llqgvaelkh
      721 wiyls
//
LOCUS       XP_011539237            2110 aa            linear   PRI 20-MAR-2023
DEFINITION  sperm-associated antigen 17 isoform X5 [Homo sapiens].
ACCESSION   XP_011539237
VERSION     XP_011539237.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011540935.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2110
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..2110
                     /product="sperm-associated antigen 17 isoform X5"
                     /calculated_mol_wt=239330
     Region          135..>233
                     /region_name="Leo1"
                     /note="Leo1-like protein; pfam04004"
                     /db_xref="CDD:427645"
     Region          1963..2067
                     /region_name="PapD-like"
                     /note="Flagellar-associated PapD-like; pfam14874"
                     /db_xref="CDD:373355"
     CDS             1..2110
                     /gene="SPAG17"
                     /gene_synonym="CT143; PF6; SPGF55"
                     /coded_by="XM_011540935.3:247..6579"
                     /db_xref="GeneID:200162"
                     /db_xref="HGNC:HGNC:26620"
                     /db_xref="MIM:616554"
ORIGIN      
        1 mdsgekltlp ligkllkfql lqikfkdqqr renekkvied kpklekdkgk akspkekkap
       61 sakpakgkgk dqpeanapvk kttqlkrrge ddhtnryidd epddgaqhyi ivvgfnnpql
      121 laimaelgip itsvikisse nyeplqthla avnqqqevll qsedleaekl kkenaikelk
      181 tfwkylepvl nnekpetnlf dvarleymvk aadfpsdwsd gemmlklgtd ifeniaclmy
      241 dildwkrqhq hylesmqlin vpqvvnekpv leamptseap qpavpapgkk kaqyeepqap
      301 ppvtsvitte vdmryynyll npireefisv plilhcmleq vvateedlvp pslrepspra
      361 dgldhriaah ivsllpslcl serekknlhd iflseeenes kavpkgplll nyhdahahkk
      421 yalqdqknfd pvqieqemqs klplweflqf plpppwnntk rlatihelmh fctsdvlswn
      481 everafkvft feslklsevd ekgklkpsgm mcgsdsemfn ipwdnparfa kqirqqyvmk
      541 mntqeakqka dikikdrtlf vdqnlsmsvq dnesnrepsd psqcdannmk hsdlnnlkls
      601 vpdnrqlleq esimkaqpqh esleqttnne ikddavtkad shekkpkkmm veadledikk
      661 tqqrslmdws ftehfkpkvl lqvlqeahkq yrcvdsyyht qdnslllvfh npmnrqrlhc
      721 eywnialhsn vgfrnylelv aksiqdwitk eeaiyqeskm nekiirtrae lelkssanak
      781 ltsaskifsi kesksnkgis kteisdqeke kekekipfil egslkawkee qhrlaeeerl
      841 reekkaekkg keagkkkgkd naekedsrsl kkkspykeks keeqvkiqev teesphqpep
      901 kitypfhgyn mgniptqisg snyylypsdg gqievektmf ekgptfikvr vvkdnhnfmi
      961 hlndpkeivk keekgdyyle eeeegdeeqs letevsdakn kafskfgsfs atlengicls
     1021 isyygsngma pedkdpdlet ilnipsaltp tvvpvivtvp qskakgkikg kekpkeslke
     1081 eehpkeeekk eeevepepvl qetldvptfq slnvscpsgl lltfigqest gqyvideept
     1141 wdimvrqsyp qrvkhyefyk tvmppaeqea srvitsqgtv vkymldgstq ilfadgavsr
     1201 spnsglicpp sempatphsg dlmdsisqqk setipseitn tkkgkshksq ssmahkgeih
     1261 dpppeavqtv tpvevhigtw ftttpegnri gtkgleriad ltpllsfqat dpvngtvmtt
     1321 redkvviver kdgtrivdha dgtrittfyq vyedqiilpd dqettegprt vtrqvkcmrv
     1381 essryatvia ncedssccat fgdgttiiak pqgtyqvlpp ntgslyidkd csavychess
     1441 sniyypfqkr eqlragryim rhtsevicev ldpegntfqv madgsistil pekkleddln
     1501 ektegydsls smhleknhqq iygehvprff vmyadgsgme llrdsdieey lslaykesnt
     1561 vvlqepvqeq pgtltitvlr pfheaspwqv kkedtivppn lrsrswetfp svekktpgpp
     1621 fgtqiwkglc ieskqlvsap gailkspsvl qmrqfiqhev iknevklrlq vslkdyinyi
     1681 lkkedelqem mvkdsrteee rgnaadllkl vmsfpkmeet tkshvtevaa hltdlfkqsl
     1741 atppkcppdt fgkdffektw rhtasskrwk ekidktrkei ettqnylmdi knriippffk
     1801 selnqlyqsq ynhldslskk lpsftkkned anetavqdts dlnldfkphk vseqksssvp
     1861 slpkpeisad kkdftaqnqt enltkspeea esyepvkipt qsllqdvagq trkekvklph
     1921 yllsskpksq plakvqdsvg gkvntssvas aainnakssl fgfhllpssv kfgvlkeght
     1981 yatvvklknv gvdfcrfkvk qpppstglkv tykpgpvaag mqtelnielf atavgedgak
     2041 gsahishnie imtehevlfl pveatvltss nydkrpkdfp qgkenpmvqr tstiysstlg
     2101 vfmsrkvsph
//
LOCUS       XP_016856794             686 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase MARK1 isoform X5 [Homo sapiens].
ACCESSION   XP_016856794
VERSION     XP_016856794.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001305.3
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 31% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..686
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..686
                     /product="serine/threonine-protein kinase MARK1 isoform
                     X5"
                     /calculated_mol_wt=76544
     Region          <1..201
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          221..261
                     /region_name="UBA_MARK1"
                     /note="UBA domain found in serine/threonine-protein kinase
                     MARK1 and similar proteins; cd14405"
                     /db_xref="CDD:270588"
     Region          587..684
                     /region_name="MARK1-3_C"
                     /note="C-terminal, kinase associated domain 1 (KA1), a
                     phospholipid binding domain, of microtubule
                     affinity-regulating kinases 1-3; cd12196"
                     /db_xref="CDD:213381"
     Site            order(589,592,662,664..665)
                     /site_type="other"
                     /note="putative phospholipid binding site [chemical
                     binding]"
                     /db_xref="CDD:213381"
     CDS             1..686
                     /gene="MARK1"
                     /gene_synonym="MARK; Par-1c; Par1c"
                     /coded_by="XM_017001305.3:1109..3169"
                     /db_xref="GeneID:4139"
                     /db_xref="HGNC:HGNC:6896"
                     /db_xref="MIM:606511"
ORIGIN      
        1 mkilnhpniv klfevietek tlylvmeyas ggevfdylva hgrmkekear akfrqivsav
       61 qychqkyivh rdlkaenlll dgdmnikiad fgfsneftvg nkldtfcgsp pyaapelfqg
      121 kkydgpevdv wslgvilytl vsgslpfdgq nlkelrervl rgkyripfym stdcenllkk
      181 llvlnpikrg sleqimkdrw mnvgheeeel kpytepdpdf ndtkridimv tmgfardein
      241 dalinqkyde vmatyillgr kppefegges lssgnlcqrs rpssdlnnst lqspahlkvq
      301 rsisanqkqr rfsdhagpsi ppavsytkrp qansveseqk eewdkdvark lgsttvgsks
      361 emtasplvgp erkksstips nnvysggsma rrntyvcert tdryvalqng kdssltemsv
      421 ssissagssv asavpsarpr hqksmstsgh pikvtlptik dgseayrpgs ttqrvpaasp
      481 sahsistatp drtrfprgss srstfhgeql rerrsvayng ppaspshetg afaharrgts
      541 tgiiskitsk fvrrdpsege asgrtdtsrs tsgepkerdk eegkdskprs lrftwsmktt
      601 ssmdpndmmr eirkvldann cdyeqkerfl lfcvhgdarq dslvqwemev cklprlslng
      661 vrfkrisgts iafkniaski anelkl
//
LOCUS       XP_011540110             392 aa            linear   PRI 20-MAR-2023
DEFINITION  NIPA-like protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_011540110
VERSION     XP_011540110.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011541808.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..392
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..392
                     /product="NIPA-like protein 3 isoform X1"
                     /calculated_mol_wt=43130
     Region          18..312
                     /region_name="EamA"
                     /note="EamA-like transporter family; cl23754"
                     /db_xref="CDD:451527"
     CDS             1..392
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /coded_by="XM_011541808.3:201..1379"
                     /db_xref="GeneID:57185"
                     /db_xref="HGNC:HGNC:25233"
                     /db_xref="MIM:620034"
ORIGIN      
        1 maptgltfas ppsavreenl igallaifgh lvvsialnlq kychirlags kdprayfktk
       61 twwlglflml lgelgvfasy afaplslivp lsavsviasa iigiifikek wkpkdflrry
      121 vlsfvgcgla vvgtyllvtf apnshekmtg envtrhlvsw pfllymlvei ilfclllyfy
      181 keknannivv illlvallgs mtvvtvkava gmlvlsiqgn lqldypifyv mfvcmvatav
      241 yqaaflsqas qmydsslias vgyilsttia itagaifyld figedvlhic mfalgcliaf
      301 lgvflitrnr kkpipfepyi smdampgmqn mhdkgmtvqp elkasfsyga lenndnisei
      361 yapatlpvmq eehgsrsasg vpyrvlehtk ke
//
LOCUS       XP_047285047             874 aa            linear   PRI 20-MAR-2023
DEFINITION  probable methyltransferase TARBP1 isoform X13 [Homo sapiens].
ACCESSION   XP_047285047
VERSION     XP_047285047.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429091.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..874
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..874
                     /product="probable methyltransferase TARBP1 isoform X13"
                     /calculated_mol_wt=99191
     CDS             1..874
                     /gene="TARBP1"
                     /gene_synonym="TRM3; TRMT3; TRP-185; TRP185"
                     /coded_by="XM_047429091.1:69..2693"
                     /db_xref="GeneID:6894"
                     /db_xref="HGNC:HGNC:11568"
                     /db_xref="MIM:605052"
ORIGIN      
        1 mrfqralcia gsfllkfirk mtsrhwcavp ilflskalan vprhkalgid gllalrdvih
       61 ctmithqill rgaaqcyllq tamnlldvek vslsdvstfl mslrqeeslg rgtslwtelc
      121 dwlrvnesyf kpsptcssig lhktslnayv ksivqeyvks sawetgencf mpdwfeaklv
      181 slmvllavdv egmktqysgk qrtenvlrif ldplldvlmk fstnaympll ktdrclqlll
      241 kllntcrlkg ssaqddevst vlqnffmstt esisefilrr ltmnelnsvs dldrchlylm
      301 vltelinlhl kvgwkrgnpi wrvisllkna siqhlqemds gqeptvgsqi qrvvsmaala
      361 mvceaidqkp elqldslhag plesflsslq lnqtlqkpha eeqssyahpl ecssvleess
      421 ssqgwgkiva qyihdqwvcl sfllkkyhtl ipttgseile pflpavqmpi rtlqsaleal
      481 tvlssdqvlp vfhclkvlvp klltsseslc iesfdmawki isslsntqli fwanlkafvq
      541 fvfdnkvlti aakikgqayf kikeimykii emsaiktgvf ntlisyccqs wivsasnvsq
      601 gslssaknys elileacifg tvfrrdqrlv qdvqtfienl ghdcaanivm entkredhyv
      661 ricavkflcl ldgsnmshkl fiedlaikll dkdelvsksk kryyvnslqh rvknrvwqtl
      721 lvlfprldqn flngiidrif qagftnnqas ikyfiewiii lilhkfpqfl pkfwdcfsyg
      781 eenlktsict flavlshldi itqnipekcv sarwqcvtvp gklvhifrki kkalasdkik
      841 cclsvlnmcr keiclqsiek akteqtlscc gvde
//
LOCUS       XP_016857924             894 aa            linear   PRI 20-MAR-2023
DEFINITION  taste receptor type 1 member 3 isoform X1 [Homo sapiens].
ACCESSION   XP_016857924
VERSION     XP_016857924.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002435.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..894
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..894
                     /product="taste receptor type 1 member 3 isoform X1"
                     /calculated_mol_wt=97718
     Region          29..495
                     /region_name="PBP1_taste_receptor"
                     /note="ligand-binding domain of the T1R taste receptor;
                     cd06363"
                     /db_xref="CDD:380586"
     Site            order(107..108,110..111,114..115,118,129,152,155,159..160,
                     224)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:380586"
     Site            order(145,168..170,218,302)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:380586"
     Region          495..589
                     /region_name="NCD3G"
                     /note="Nine Cysteines Domain of family 3 GPCR; pfam07562"
                     /db_xref="CDD:429539"
     Region          632..861
                     /region_name="7tmC_TAS1R3"
                     /note="type 1 taste receptor subtype 3, member of the
                     class C of seven-transmembrane G protein-coupled
                     receptors; cd15290"
                     /db_xref="CDD:320417"
     Region          646..667
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320417"
     Site            order(666,678..679,682..683,686,767,772,775..776,779,813,
                     816..817,820,824,832..833,836,839,843)
                     /site_type="other"
                     /note="putative allosteric modulator binding site
                     [chemical binding]"
                     /db_xref="CDD:320417"
     Region          676..700
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320417"
     Region          723..743
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320417"
     Region          768..794
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320417"
     Region          802..825
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320417"
     Region          830..855
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320417"
     CDS             1..894
                     /gene="TAS1R3"
                     /gene_synonym="T1R3"
                     /coded_by="XM_017002435.2:67..2751"
                     /db_xref="GeneID:83756"
                     /db_xref="HGNC:HGNC:15661"
                     /db_xref="MIM:605865"
ORIGIN      
        1 mlgpavlgls lwallhpgtg aplclsqqlr mkgdyvlggl fplgeaeeag lrsrtrpssp
       61 vctrfssngl lwalamkmav eeinnksdll pglrlgydlf dtcsepvvam kpslmflaka
      121 gsrdiaaycn ytqyqprvla vigphssela mvtgkffsff lmpqvsygas mellsaretf
      181 psffrtvpsd rvqltaaael lqefgwnwva algsddeygr qglsifsala aargiciahe
      241 glvplpradd srlgkvqdvl hqvnqssvqv vllfasvhaa halfnysiss rlspkvwvas
      301 eawltsdlvm glpgmaqmgt vlgflqrgaq lhefpqyvkt hlalatdpaf csalgereqg
      361 leedvvgqrc pqcdcitlqn vsaglnhhqt fsvyaavysv aqalhntlqc nasgcpaqdp
      421 vkpwqllenm ynltfhvggl plrfdssgnv dmeydlklwv wqgsvprlhd vgrfngslrt
      481 erlkirwhts dnqkpvsrcs rqcqegqvrr vkgfhsccyd cvdceagsyr qnpgeppsrq
      541 agvgtqqgrv lpspdsetra hrvqdehpap fssltddiac tfcgqdewsp erstrcfrrr
      601 srflawgepa vlllllllsl alglvlaalg lfvhhrdspl vqasggplac fglvclglvc
      661 lsvllfpgqp sparclaqqp lshlpltgcl stlflqaaei fveselplsw adrlsgclrg
      721 pwawlvvlla mlvevalctw ylvafppevv tdwhmlptea lvhcrtrswv sfglahatna
      781 tlaflcflgt flvrsqpgcy nrargltfam layfitwvsf vpllanvqvv lrpavqmgal
      841 llcvlgilaa fhlprcyllm rqpglntpef flgggpgdaq gqndgntgnq gkhe
//
LOCUS       XP_016858253             385 aa            linear   PRI 20-MAR-2023
DEFINITION  SH2 domain-containing protein 2A isoform X3 [Homo sapiens].
ACCESSION   XP_016858253
VERSION     XP_016858253.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002764.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..385
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..385
                     /product="SH2 domain-containing protein 2A isoform X3"
                     /calculated_mol_wt=42420
     Region          83..184
                     /region_name="SH2_SH2D2A"
                     /note="Src homology 2 domain found in the SH2 domain
                     containing protein 2A (SH2D2A); cd10416"
                     /db_xref="CDD:198279"
     Site            order(98,116,136,138)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198279"
     Site            order(137,166)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198279"
     Region          <139..273
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     CDS             1..385
                     /gene="SH2D2A"
                     /gene_synonym="F2771; SCAP; TSAD; VRAP"
                     /coded_by="XM_017002764.3:141..1298"
                     /db_xref="GeneID:9047"
                     /db_xref="HGNC:HGNC:10821"
                     /db_xref="MIM:604514"
ORIGIN      
        1 mefplaqicp qgsheapipt fstfqitdmt rrscqnlgyt aapeaasntg naeraeevpg
       61 egslflqaet rawfqktqah wllqhgaapa wfhgfitrre aerllepkpq gcylvrfses
      121 avtfvltyrs rtccrhflla qlrdgrhvvl gedsaharlq dlllhytahp lspygetlte
      181 plarqtpepa glslrteesn fgsksqdpnp qyspiikqgq apvpmqkega gekepsqllr
      241 pkppipakpq lppevytipv prhrpaprpk psnpiynepd epiafyamgr gspgeapsni
      301 yvevedeglp atlghpvlrk swsrpvpggq ntggsqlhse nsvigqgppl phqpppawrh
      361 tlphnlsrqv lqdrgqawlp lgppq
//
LOCUS       XP_016871135             348 aa            linear   PRI 20-MAR-2023
DEFINITION  protrudin isoform X5 [Homo sapiens].
ACCESSION   XP_016871135
VERSION     XP_016871135.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017015646.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..348
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..348
                     /product="protrudin isoform X5"
                     /calculated_mol_wt=38788
     CDS             1..348
                     /gene="ZFYVE27"
                     /gene_synonym="PROTRUDIN; SPG33"
                     /coded_by="XM_017015646.2:196..1242"
                     /db_xref="GeneID:118813"
                     /db_xref="HGNC:HGNC:26559"
                     /db_xref="MIM:610243"
ORIGIN      
        1 mqtseregsg pelspsvmpe aplesppfpt kspafdlfnl vlsykrleiy leplkdagdg
       61 vryllrwqmp lcslltclgl nvlfltlneg awysvgalmi svpallgylq evcrarlpds
      121 elmrrkyhsv rqedlqrgrl srpeavaevk sfliqleafl srlcctceaa yrvlhwenpv
      181 vssqfygall gtvcmlyllp lcwvltllns tlflgnveff rvvseyrasl qqrmnpkqee
      241 hafesppppd vggkdglmds tpaltptedl tpgsveeaee aepdeefkda ieeddegapc
      301 paedelalqd ngflsknevl rskvsrlter lrkryptnnf gvtgagss
//
LOCUS       XP_047281911             342 aa            linear   PRI 20-MAR-2023
DEFINITION  pre-mRNA-splicing factor 18 isoform X2 [Homo sapiens].
ACCESSION   XP_047281911
VERSION     XP_047281911.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425955.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..342
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..342
                     /product="pre-mRNA-splicing factor 18 isoform X2"
                     /calculated_mol_wt=39729
     Region          79..122
                     /region_name="SFM"
                     /note="Splicing Factor Motif, present in Prp18 and Pr04;
                     smart00500"
                     /db_xref="CDD:128776"
     Region          190..330
                     /region_name="Prp18"
                     /note="Prp18 domain; pfam02840"
                     /db_xref="CDD:427015"
     CDS             1..342
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /coded_by="XM_047425955.1:123..1151"
                     /db_xref="GeneID:8559"
                     /db_xref="HGNC:HGNC:17351"
                     /db_xref="MIM:604993"
ORIGIN      
        1 mdilkseilr krqlvedrnl lvenkkyfkr selakkeeea yfercgykiq pkeedqkplt
       61 ssnpvlelel aeeklpmtls rqevirrlre rgepirlfge tdydafqrlr kieiltpevn
      121 kglrndlkaa ldkidqqyln eivggqepge edtqndlkvh eenttieele algeslgkgd
      181 dhkdmdiitk flkfllgvwa kelnaredyv krsvqgklns atqkqtesyl rplfrklrkr
      241 nlpadikesi tdiikfmlqr eyvkandayl qmaignapwp igvtmvgiha rtgrekifsk
      301 hvahvlndet qrkyiqglkr lmticqkhfp tdpskcveyn al
//
LOCUS       XP_006718204             562 aa            linear   PRI 20-MAR-2023
DEFINITION  xylosyl- and glucuronyltransferase LARGE2 isoform X14 [Homo
            sapiens].
ACCESSION   XP_006718204
VERSION     XP_006718204.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006718141.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..562
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..562
                     /product="xylosyl- and glucuronyltransferase LARGE2
                     isoform X14"
                     /calculated_mol_wt=63116
     Region          97..376
                     /region_name="GT8_LARGE_C"
                     /note="LARGE catalytic domain has closest homology to GT8
                     glycosyltransferase involved in lipooligosaccharide
                     synthesis; cd06431"
                     /db_xref="CDD:133053"
     Site            order(102..104,107..108,183,199,201..203,231,255..257,
                     293..294,319..320,339,341..342,345)
                     /site_type="active"
                     /note="putative ligand binding site [active]"
                     /db_xref="CDD:133053"
     Site            order(201,203,339)
                     /site_type="active"
                     /note="metal binding site [active]"
                     /db_xref="CDD:133053"
     Region          431..>552
                     /region_name="Glyco_transf_49"
                     /note="Glycosyl-transferase for dystroglycan; pfam13896"
                     /db_xref="CDD:433564"
     CDS             1..562
                     /gene="LARGE2"
                     /gene_synonym="GYLTL1B; PP5656"
                     /coded_by="XM_006718141.5:136..1824"
                     /db_xref="GeneID:120071"
                     /db_xref="HGNC:HGNC:16522"
                     /db_xref="MIM:609709"
ORIGIN      
        1 mlprgrpral gaaallllll llgfllfggd lgcerrepgg ragapgcfpg plmprvppdg
       61 rlrraaaldg dpgagpgdhn rsdcgpqppp ppkcellhva ivcaghnssr dvitlvksml
      121 fyrknplhlh lvtdavarni letlfhtwmv pavrvsfyha dqlkpqvswi pnkhysglyg
      181 lmklvlpsal paelarvivl dtdvtfasdi selwalfahf sdtqaiglve nqsdwylgnl
      241 wknhrpwpal grgfntgvil lrldrlrqag weqmwrltar rellslpats ladqdifnav
      301 ikehpglvqr lpcvwnvqls dhtlaercys easdlkvihw nspkklrvkn khveffrnfy
      361 ltfleydgnl lrrelfvcps qpppgaeqlq qalaqldeed pcfefrqqql tvhrvhvtfl
      421 phepppprph dvtlvaqlsm drlqmlealc rhwpgpmsla lyltdaeaqq flhfveaspv
      481 laarqdvayh vvyregplyp vnqlrnvala qaltpyvfls didflpaysl ydylrearag
      541 fnssstcgca hpshqarwpm vv
//
LOCUS       XP_047283048             649 aa            linear   PRI 20-MAR-2023
DEFINITION  PHD finger protein 21A isoform X9 [Homo sapiens].
ACCESSION   XP_047283048
VERSION     XP_047283048.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427092.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..649
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..649
                     /product="PHD finger protein 21A isoform X9"
                     /calculated_mol_wt=71583
     Region          <112..319
                     /region_name="DUF5585"
                     /note="Family of unknown function (DUF5585); pfam17823"
                     /db_xref="CDD:436069"
     Region          <375..537
                     /region_name="TNG2"
                     /note="Chromatin remodeling protein, contains PhD zinc
                     finger [Chromatin structure and dynamics]; COG5034"
                     /db_xref="CDD:227367"
     Region          491..533
                     /region_name="PHD_PHF21A"
                     /note="PHD finger found in PHD finger protein 21A
                     (PHF21A); cd15523"
                     /db_xref="CDD:276998"
     Site            order(491,498..503,523..526,528)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:276998"
     CDS             1..649
                     /gene="PHF21A"
                     /gene_synonym="BHC80; BM-006; IDDBCS; NEDMS"
                     /coded_by="XM_047427092.1:757..2706"
                     /db_xref="GeneID:51317"
                     /db_xref="HGNC:HGNC:24156"
                     /db_xref="MIM:608325"
ORIGIN      
        1 melqtlqeal kveiqvhqkl vaqmkqdpqn adlkkqlhel qakitalsek qkrvveqlrk
       61 nlivkqeqpd kfqiqplpqs enklqtaqqq plqqlqqqqq yhhhhaqqsa aaspnltasq
      121 ktvttasmit tktlplvlka atatmpasvv gqrptiamvt ainsqkavls tdvqntpvnl
      181 qtsskvtgpg aeavqivakn tvtlqvqatp pqpikvpqfi ppprltprpn flpqvrpkpv
      241 aqnnipiapa pppmlaapql iqrpvmltkf tpttlptsqn sihpvrvvng qtatiaktfp
      301 maqltsivia tpgtrlagpq tvqlskpsle kqtvkshtet dekqtesrti tppaapkpkr
      361 eenpqklafm vslglvthdh leeiqskrqe rkrrttanpv ysgavfeper kksavtylns
      421 tmhpgtrkrg rppkynavlg fgaltptspq sshpdspene ktettftfpa pvqpvslpsp
      481 tstdgdihed fcsvcrksgq llmcdtcsrv yhldcldppl ktipkgmwic prcqdqmlkk
      541 eeaipwpgtl aivhsyiayk aakeeekqkl lkwssdlkqe reqleqkvkq lsnsisceea
      601 gfletsigkm hgneehhpgp aegdaqlpge gktadsphpr hrplqtcrl
//
LOCUS       XP_047283059             632 aa            linear   PRI 20-MAR-2023
DEFINITION  PHD finger protein 21A isoform X16 [Homo sapiens].
ACCESSION   XP_047283059
VERSION     XP_047283059.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427103.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..632
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..632
                     /product="PHD finger protein 21A isoform X16"
                     /calculated_mol_wt=69823
     Region          442..484
                     /region_name="PHD_PHF21A"
                     /note="PHD finger found in PHD finger protein 21A
                     (PHF21A); cd15523"
                     /db_xref="CDD:276998"
     Site            order(442,449..454,474..477,479)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:276998"
     CDS             1..632
                     /gene="PHF21A"
                     /gene_synonym="BHC80; BM-006; IDDBCS; NEDMS"
                     /coded_by="XM_047427103.1:380..2278"
                     /db_xref="GeneID:51317"
                     /db_xref="HGNC:HGNC:24156"
                     /db_xref="MIM:608325"
ORIGIN      
        1 melqtlqeal kveiqvhqkl vaqmkqdpqn adlkkqlhel qakitalsek qkrvveqlrk
       61 nlivkqeqpd kfqiqplpqs enklqtaqqq plqqlqqqqq yhhhhaqqsa aaspnltasq
      121 tvttasmitt ktlplvlkaa tatmpasvvg qrptiamvta insqkavlst dvqntpvnlq
      181 tsskvtgpga eavqivaknt vtlvqatppq pikvpqfipp prltprpnfl pqvrpkpvaq
      241 nnipiapapp pmlaapqliq rpvmltkftp ttlptsqnsi hpvrvvngqt atiaktfpma
      301 qltsiviatp gtrlagpqtv qlskpslekq tvkshtetde kqtesrtitp paapkpkree
      361 npqklafmvs lglvthdhle eiqskrqerk rrttanpvys gavfeperkk savtylnstm
      421 hpgtrkrane ehwpkgdihe dfcsvcrksg qllmcdtcsr vyhldcldpp lktipkgmwi
      481 cprcqdqmlk keeaipwpgt laivhsyiay kaakeeekqk llkwssdlkq ereqleqkvk
      541 qlsnsiskcm emkntilarq kemhsslekv kqlirlihgi dlskpvdsea tvgaisngpd
      601 ctppanaats tpapspssqs ctancnqgee tk
//
LOCUS       XP_047283149             640 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A
            beta isoform isoform X2 [Homo sapiens].
ACCESSION   XP_047283149
VERSION     XP_047283149.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427193.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..640
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..640
                     /product="serine/threonine-protein phosphatase 2A 65 kDa
                     regulatory subunit A beta isoform isoform X2"
                     /calculated_mol_wt=70457
     Region          25..49
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          33..>315
                     /region_name="HEAT"
                     /note="HEAT repeat [General function prediction only];
                     COG1413"
                     /db_xref="CDD:224331"
     Site            order(41..42,45,48..49,79..80,83,86..87,90,118..119,122,
                     125..126,129,157..158,161,164..165,195..196,199,202..203)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          63..90
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          100..130
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          139..165
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          175..204
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          212..>474
                     /region_name="HEAT"
                     /note="HEAT repeat [General function prediction only];
                     COG1413"
                     /db_xref="CDD:224331"
     Region          216..246
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          257..281
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(273..274,277,280..281,312..313,316,319..320,323,
                     355..356,359,362..363,366,394..395,398,401..402,433..434,
                     437,440..441)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          295..323
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          337..367
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          376..402
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          413..442
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          454..480
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          491..520
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          530..556
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          571..597
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     CDS             1..640
                     /gene="PPP2R1B"
                     /gene_synonym="PP2A-Abeta; PR65B"
                     /coded_by="XM_047427193.1:29..1951"
                     /db_xref="GeneID:5519"
                     /db_xref="HGNC:HGNC:9303"
                     /db_xref="MIM:603113"
ORIGIN      
        1 magaselgtg pgaaggdgdd slypiavlid elrnedvqlr lnsikklsti alalgvertr
       61 sellpfltdt iydedevlla laeqlgnftg lvggpdfahc llpplenlat veetvvrdka
      121 veslrqisqe htpvaleayf vplvkrlasg dwftsrtsac glfsvcypra snavkaeirq
      181 qfrslcsddt pmvrraaask lgefakvlel dsvkseivpl ftslasdeqd svrllaveac
      241 vsiaqllsqd dletlvmptl rqaaedkswr vrymvadrfs elqkamgpki tlndlipafq
      301 nllkdceaev raaaahkvke lgenlpiedr etiimnqilp yikelvsdtn qhvksalasv
      361 imglstilgk entiehllpl flaqlkdecp dvrlniisnl dcvnevigir qlsqsllpai
      421 velaedakwr vrlaiieymp llagqlgvef fdeklnslcm awlvdhvyai reaatnnlmk
      481 lvqkfgtewa qntivpkvlv mandpnylhr mttlfcinal seacgqeitt kqmlpivlkm
      541 agdqvanvrf nvakslqkig pildtnalqg evkpvlqklg qdedmdvkyf aqeaisvvaq
      601 rlrklefpvk dsgepsvpra dknhfprptv pgedmgkesg
//
LOCUS       XP_047283188             601 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 6 regulatory subunit 3 isoform
            X16 [Homo sapiens].
ACCESSION   XP_047283188
VERSION     XP_047283188.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427232.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..601
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..601
                     /product="serine/threonine-protein phosphatase 6
                     regulatory subunit 3 isoform X16"
                     /calculated_mol_wt=68769
     Region          128..513
                     /region_name="SAPS"
                     /note="SIT4 phosphatase-associated protein; pfam04499"
                     /db_xref="CDD:398279"
     CDS             1..601
                     /gene="PPP6R3"
                     /gene_synonym="C11orf23; PP6R3; SAP190; SAPL; SAPLa;
                     SAPS3"
                     /coded_by="XM_047427232.1:339..2144"
                     /db_xref="GeneID:55291"
                     /db_xref="HGNC:HGNC:1173"
                     /db_xref="MIM:610879"
ORIGIN      
        1 mfwkfdlhss shidtllere dvtlkelmde edvlqeckaq nrkliefllk aecledlvsf
       61 iieeppqdmd ekirykypni scelltsdvs qmndrlgede sllmklysfl lndsplnpll
      121 asffskvlsi lisrkpeqiv dflkkkhdfv dliikhigts aimdlllrll tcieppqprq
      181 dvlnwlneek iiqrlveivh psqeedrhsn asqslceivr lsrdqmlqiq nstepdplla
      241 tlekqeiieq llsnifhkek nesaivsaiq illtlletrr ptfeghieic ppgmshsacs
      301 vnksvleair grlgsfhell leppkksvmk ttwgvldppv gntrlnvirl issllqtnts
      361 singdlmeln sigvilnmff kytwnnflht qveicialil aspfentena titdqdstgd
      421 nlllkhlfqk cqlierilea wemnekkqae ggrrhgymgh ltriancivh stdkgpnsal
      481 vqqlikdlpd evrerwetfc tsslgetnkr ntvdlqgyih lytehfpvll avylrtcsll
      541 ldklcpapgs yhfcnilvkf slryskcfnl lapsypntct adsytpcvfm fgvydeqklv
      601 f
//
LOCUS       XP_047283192             329 aa            linear   PRI 20-MAR-2023
DEFINITION  T-complex protein 11-like protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_047283192
VERSION     XP_047283192.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427236.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..329
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..329
                     /product="T-complex protein 11-like protein 1 isoform X3"
                     /calculated_mol_wt=37083
     Region          <1..322
                     /region_name="Tcp11"
                     /note="T-complex protein 11; pfam05794"
                     /db_xref="CDD:428628"
     CDS             1..329
                     /gene="TCP11L1"
                     /gene_synonym="dJ85M6.3"
                     /coded_by="XM_047427236.1:335..1324"
                     /db_xref="GeneID:55346"
                     /db_xref="HGNC:HGNC:25655"
ORIGIN      
        1 mmgtlcapar deevkklkdi keivplfrei fsvldlmkvd manfaissir phlmqqsvey
       61 erkkfqeile rqptlfftds ldfvtqwlee asedlmtqky khalpvggma agsgdmprls
      121 pvavqnyayl kllkwdhlqr pfpetvlmdq srfhelqlql eqltilgavl lvtfsmaapg
      181 issqadfaek lkmivkillt dmhlpsfhlk dvlttigekv clevssclsl cgsspfttdk
      241 etvlkgqiqa vaspddpirr imesriltfl etylasghqk plptvpggls pvqreleeva
      301 ikfarlvnyn kmvfcpyyda ilskilvrs
//
LOCUS       XP_011543593             412 aa            linear   PRI 20-MAR-2023
DEFINITION  protein unc-93 homolog B1 isoform X2 [Homo sapiens].
ACCESSION   XP_011543593
VERSION     XP_011543593.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011545291.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..412
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..412
                     /product="protein unc-93 homolog B1 isoform X2"
                     /calculated_mol_wt=45796
     Region          <1..335
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     CDS             1..412
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /coded_by="XM_011545291.3:146..1384"
                     /db_xref="GeneID:81622"
                     /db_xref="HGNC:HGNC:13481"
                     /db_xref="MIM:608204"
ORIGIN      
        1 maqkyheysh ykeqdgqgmk qrpprgshap yllvfqaify sffhlsfaca qlpmiyflnh
       61 ylydlnhtly nvqscgtnsh gilsgfnktv lrtlprsgnl ivvesvlmav aflamllvlg
      121 lcgaayrpte eidlrsvgwg nifqlpfkhv rdyrlrhlvp ffiysgfevl factgialgy
      181 gvcsvglerl ayllvayslg asaasllgll glwlprpvpl vagagvhlll tfilffwapv
      241 prvlqhswil yvaaalwgvg salnktglst llgilyedke rqdfiftiyh wwqavaiftv
      301 ylgsslhmka klavllvtlv aaavsylrme qklrrgvapr qpriprpqhk vrgyryleed
      361 nsdesdaege hgdgaeeeap pagprpgpep aglgrrpcpy eqaqggdgpe eq
//
LOCUS       XP_047283719            1289 aa            linear   PRI 20-MAR-2023
DEFINITION  liprin-alpha-1 isoform X5 [Homo sapiens].
ACCESSION   XP_047283719
VERSION     XP_047283719.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427763.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1289
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1289
                     /product="liprin-alpha-1 isoform X5"
                     /calculated_mol_wt=145151
     Region          <45..687
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          246..>546
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          949..1019
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat1"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     1; cd09562"
                     /db_xref="CDD:188961"
     Region          1066..1131
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat2"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     2; cd09565"
                     /db_xref="CDD:188964"
     Region          1151..1222
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat3"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     3; cd09568"
                     /db_xref="CDD:188967"
     CDS             1..1289
                     /gene="PPFIA1"
                     /gene_synonym="LIP.1; LIP1; LIPRIN"
                     /coded_by="XM_047427763.1:226..4095"
                     /db_xref="GeneID:8500"
                     /db_xref="HGNC:HGNC:9245"
                     /db_xref="MIM:611054"
ORIGIN      
        1 mmcevmptis eaegppgggg ghgsgspsqp dadshfeqlm vsmleerdrl ldtlretqet
       61 laltqgklhe vgherdslqr qlntalpqef aaltkelnvc reqllereee iaelkaernn
      121 trlllehlec lvsrherslr mtvvkrqaqs pagvssevev lkalkslfeh hkaldekvre
      181 rlrvalercs lleeelgath kelmilkeqn nqkktltdgv ldinheqent pstsgkrssd
      241 gslsheedla kvielqeiis kqsreqsqmk erlaslsshv teleedldta rkdlikseem
      301 ntklqrdvre amaqkedmee rittlekryl aaqreatsvh dlndklenei ankdsmhrqt
      361 edknrqlqer lelaeqklqq tlrkaetlpe veaelaqrva alsksdllss gssaakeakl
      421 leltsklrka eerhgnieer lrqmeaqlee knqelqrarq rekmneehnk rlsdtvdkll
      481 sesnerlqlh lkermaaled knsllreves akkqleetqh dkdqlvlnie alraeldhmr
      541 lrgaslhhgr phlgsvpdfr fpmadghtds ystsavlrrp qkgrlaalrd epskvqtlne
      601 qdweraqqas vlanvaqafe sdadvsdged drdtllssvd llspsgqada htlammlqeq
      661 ldainkeirl iqeekenteq raeeiesrvg sgsldnlgrf rsmssippyp asslassspp
      721 gsgrstprri phsparevdr lgvmtlpspd sfliqtsgph qsvvysstsp psstpcysds
      781 sqhaqpsdlr khrrklppsr eevrddktti kcetsppssp ralrldrlhk galhtvshed
      841 irdirnstgs qdgpvsnpss snssqdslhk apkkkgikss igrlfgkkek grpgqtgkea
      901 lgqagvsetd nssqdalgls klggqaeknr klqkkhelle earrqglpfa qwdgptvvvw
      961 lelwvgmpaw yvaacranvk sgaimsalsd teiqreigis nplhrlklrl aiqeimslts
     1021 psapptsrtt tgnvwlthee metlaatpqt edeegswaqt laygdmnhew ignewlpslg
     1081 lpqyrsyfme clvdarmldh ltkkdlrgql kmvdsfhrns fqcgimclrr lnydrkeler
     1141 kreesqseik dvlvwsndrv irwilsiglk eyannliesg vhgallalde tfdfsalall
     1201 lqiptqntqa ravlerefnn llvmgtdrrf dedddksfrr apswrkkfrp kdirglaags
     1261 aetlpanfrv tssmsspsmq pkkmqmdgm
//
LOCUS       XP_047283771            2428 aa            linear   PRI 20-MAR-2023
DEFINITION  neuron navigator 2 isoform X15 [Homo sapiens].
ACCESSION   XP_047283771
VERSION     XP_047283771.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427815.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2428
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..2428
                     /product="neuron navigator 2 isoform X15"
                     /calculated_mol_wt=261530
     Region          77..190
                     /region_name="CH_NAV2"
                     /note="calponin homology (CH) domain found in neuron
                     navigator 2; cd21285"
                     /db_xref="CDD:409134"
     Site            order(87,91,145,147..148,151..152,154,163..171,176,
                     178..179,181..182,185..186,189)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409134"
     Region          <286..715
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          946..>1298
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          <1627..>1899
                     /region_name="Mplasa_alph_rch"
                     /note="helix-rich Mycoplasma protein; TIGR04523"
                     /db_xref="CDD:275316"
     Region          1838..>1896
                     /region_name="Atg16_CCD"
                     /note="Coiled-coiled domain of autophagy-related 16
                     (Atg16) family proteins; cd22887"
                     /db_xref="CDD:439196"
     Region          2093..>2180
                     /region_name="AAA_22"
                     /note="AAA domain; pfam13401"
                     /db_xref="CDD:379165"
     CDS             1..2428
                     /gene="NAV2"
                     /gene_synonym="HELAD1; POMFIL2; RAINB1; STEERIN2; UNC53H2"
                     /coded_by="XM_047427815.1:860..8146"
                     /db_xref="GeneID:89797"
                     /db_xref="HGNC:HGNC:15997"
                     /db_xref="MIM:607026"
ORIGIN      
        1 mpailvaskm ksglpkpvhs aapilhvppa ragpqpcylk lgskvevskt typsqiplks
       61 qvlqglqepa geglplrksg svengfdtqi ytdwanhyla ksghkrlird lqqdvtdgvl
      121 laqiiqvvan ekiedingcp knrsqmieni daclnflaak giniqglsae eirngnlkai
      181 lglffslsry kqqqqqpqkq hlssplppav sqvagapsqc qagtpqqqvp vtpqapcqph
      241 qpaphqqska qaemqsrlpg ptarvsaags eaktrggstt annrrsqsfn nydkskpvts
      301 pppppsshek eplassassh pgmsdnapas lesgssstpt ncstssaipq pgaatkpwrs
      361 kslsvkhsat vsmlsvkppg peaprptpea mkpapnnqks mleklklfns kggskagegp
      421 gsrdtscerl etlpsfeese eleaasrmlt tvgpassspk ialkgiaqrt fsraltnkks
      481 slkgnekeke kqqrekdkek skdlakrasv terldlkeep kedpsgaavp empkksskia
      541 sfipkggkln sakkepmaps hsgipkpgmk smpgkspsap apskegersr sgklssglpq
      601 qkpqldgrhs ssssslasse gkgpggttln hsissqtvsg svgttqttgs ntvsvqlpqp
      661 qqqynhpnta tvapflyrsq tdtegnvtae ssstgvsvep shftktgqpa leeltgedpe
      721 arrlrtvkni adlrqnleet msslrgtqvt hstlettfdt nvttemsgrs ilsltgrptp
      781 lswrlgqssp rlqagdapsm gngypprana srfintesgr yvysaplrrq lasrgssvch
      841 vdvsdkagde mdlegismda pgymsdgdvl sknirtddit sgymtdgglg lytrrlnrlp
      901 dgmavvretl qrntslglgd adswddsssv ssgisdtidn lstddintss sissyantpa
      961 ssrknldvqt daekhsqver nslwsgddvk ksdggsdsgi kmepgskwrr npsdvsdesd
     1021 kstsgkknpv isqtgswrrg mtaqvgitmp rtkpsapaga lktpgtgktd dakvsekgrl
     1081 spkasqvkrs psdagrssgd eskkplpsss rtptanansf gfkkqsgsaa glamitasgv
     1141 tvtsrsatlg kipkssalvs rsagrkssmd gaqnqddgyl alssrtnlqy rslprpsksn
     1201 srngagnrss tssidsniss ksaglpvpkl repsktalgs slpglvnqtd kekgissdne
     1261 svascnsvkv npaaqpvssp aqtslqpgak ypdvasptlr rlfggkptkq vpiataenmk
     1321 nsvvisnpha tmtqqgnlds psgsgvlssg sssplysknv dlnqsplass pssahsapsn
     1381 sltwgtnass ssavskdglg fqsvsslhts cesidislss ggvpshnsst gliasskdds
     1441 ltpfvrtnsv kttlserytp tsqlrtqeda kewlrshsag glqdtaansp fssgssvtsp
     1501 sgtrfnfsql aspttvtqms lsnptmlrth slsnadgqyd pytdsrfrns smsldeksrt
     1561 msrsgsfrdg feeeswekss vdnfvsrlhs slhfslplfh haryelvhgs slslvsstss
     1621 vystpeekcq seirklrrel dasqekvsal ttqltanahl vaafeqslgn mtirlqsltm
     1681 taeqkdseln elrktiellk kqnaaaqaai ngvintpeln ckgngtaqsa dlrirrqhss
     1741 dsvssinsat shssvgsnie sdskkkkrkn wvnelrssfk qafgkkkspk sasshsdiee
     1801 mtdsslpssp klphngstgs tpllrnshsn slisecmdse aetvmqlrne lrdkemkltd
     1861 irlealssah qldqlreamn rmqseieklk aendrlkses qgsgcsraps qvsisasprq
     1921 smglsqhsln ltestsldml lddtgecsar keggrhvkiv vsfqeemkwk edsrphlfli
     1981 gcigvsgktk wdvldgvvrr lfkeyiihvd pvsqlglnsd svlgysigei krsntsetpe
     2041 llpcgylvge nttisvtvkg laensldslv feslipkpil qryvsllieh rriilsgpsg
     2101 tgktylanrl seyivlregr eltdgviatf nvdhksskel rqylsnladq cnsennavdm
     2161 plviildnlh hvsslgeifn gllnckyhkc pyiigtmnqa tsstpnlqlh hnfrwvlcan
     2221 htepvkgflg rflrrklmet eisgrvrnme lvkiidwipk vwhhlnrfle ahsssdvtig
     2281 prlflscpid vdgsrvwftd lwnysiipyl leavreglql ygrrapwedp akwvmdtypw
     2341 aaspqqhewp pllqlrpedv gfdgysmpre gstskqmpps daegdplmnm lmrlqeaany
     2401 sspqsydsds nsnshhddil dsslestl
//
LOCUS       XP_047284025            1031 aa            linear   PRI 20-MAR-2023
DEFINITION  M-phase phosphoprotein 9 isoform X15 [Homo sapiens].
ACCESSION   XP_047284025
VERSION     XP_047284025.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428069.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1031
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1031
                     /product="M-phase phosphoprotein 9 isoform X15"
                     /calculated_mol_wt=116004
     Region          <440..>646
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..1031
                     /gene="MPHOSPH9"
                     /gene_synonym="MPP-9; MPP9"
                     /coded_by="XM_047428069.1:458..3553"
                     /db_xref="GeneID:10198"
                     /db_xref="HGNC:HGNC:7215"
                     /db_xref="MIM:605501"
ORIGIN      
        1 mgffslsser nesvihypes tepeiqqems tsqpdcnvds csvssgygtf ciselnlyks
       61 kdpkefmehi dvpkgqyvap avpaeslvdg vknenfyiqt peechvslke dvsispgefe
      121 hnflgenkvs evysgktnsn aitswaqklk qnqpkrahve dggsrskqgn eqskktpiek
      181 sdfaaathpr afylskpdet pnawmsdsgt gltywkleek dmhhslpetl ektfislsst
      241 dvspnqsnts nemklpslkd iyykkqrenk qlpernltsa snpnhppevl tldptlhmkp
      301 kqqisgiqph glpnalddri sfspdsvlep smsspsdids fsqasnvtsq lpgfpkypsh
      361 tkaspvdswk nqtfqnesrt sstfpsvyti tsndisvntv deentvmvas asvsqsqlpg
      421 tansvpecis ltsledpvil skirqnlkek harhiadlra yyeseinslk qkleakeisg
      481 vedwkitnqi lvdrcgqlds alheatsrvr tlenknnlle ievndlrerf saassaskil
      541 qerieemrts skekdntiir lksrlqdlee afenayklsd dkeaqlkqen kmfqdllgey
      601 eslgkehrrv kdalnttenk lldaytqisd lkrmisklea qvkqvehenm lslrhnsrih
      661 vrpsrantla tsdvsrrkwl ipgaeysift gqpldtqdsn vdnqleetcs lghrsplekd
      721 sspgssstsl likkqretsd tpimralkel degkifknwg tqtekedtsn inprqtetsv
      781 nasrspekca qqrqkrlnsa sqrssslpps nrksstptkr eimltpvtva yspkrspken
      841 lspgfshlls knesspirfd illddldtvp vstlqrtnpr kqlqflpldd seektyseka
      901 tdnhvnhssc pepvpngvkk vsvrtawekn ksvsyeqckp vsvtpqgndf eytakirtla
      961 eterffdelt kekdqieaal srmpspggri tlqtrlnqea ledrlerinr elgsvrmtlk
     1021 kfhvlrtsan l
//
LOCUS       XP_016874748             212 aa            linear   PRI 20-MAR-2023
DEFINITION  insulin-like growth factor I isoform X1 [Homo sapiens].
ACCESSION   XP_016874748
VERSION     XP_016874748.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019259.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..212
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..212
                     /product="insulin-like growth factor I isoform X1"
                     /calculated_mol_wt=23500
     Region          66..133
                     /region_name="IlGF"
                     /note="insulin_like growth factors; specific to
                     vertebrates. Members include a number of peptides
                     including insulin-like growth factors I and II, which play
                     a variety of roles in controlling processes such as
                     growth, differentiation, and reproduction. On a...;
                     cd04368"
                     /db_xref="CDD:239834"
     Site            order(68,77,85..89)
                     /site_type="active"
                     /note="IGFBP binding surface [active]"
                     /db_xref="CDD:239834"
     Site            order(86,88..89,109)
                     /site_type="active"
                     /note="type 1 IGF- and insulin-receptor binding surface
                     [active]"
                     /db_xref="CDD:239834"
     Site            order(114..116,120..121)
                     /site_type="active"
                     /note="type 2 IGF-receptor binding surface [active]"
                     /db_xref="CDD:239834"
     CDS             1..212
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /coded_by="XM_017019259.2:24..662"
                     /db_xref="GeneID:3479"
                     /db_xref="HGNC:HGNC:5464"
                     /db_xref="MIM:147440"
ORIGIN      
        1 mcqspeshve kkkkkkfkvq visttpgkpg lesslgkevk mhtmssshlf ylalclltft
       61 ssatagpetl cgaelvdalq fvcgdrgfyf nkptgygsss rrapqtgivd eccfrscdlr
      121 rlemycaplk paksarsvra qrhtdmpktq kyqppstnkn tksqrrkgwp kthpggeqke
      181 gteaslqirg kkkeqrreig srnaecrgkk gk
//
LOCUS       XP_011536658             519 aa            linear   PRI 20-MAR-2023
DEFINITION  matrix metalloproteinase-17 isoform X1 [Homo sapiens].
ACCESSION   XP_011536658
VERSION     XP_011536658.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011538356.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..519
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..519
                     /product="matrix metalloproteinase-17 isoform X1"
                     /calculated_mol_wt=57807
     Region          <1..21
                     /region_name="PG_binding_1"
                     /note="Putative peptidoglycan binding domain; pfam01471"
                     /db_xref="CDD:426277"
     Region          48..211
                     /region_name="ZnMc_MMP"
                     /note="Zinc-dependent metalloprotease, matrix
                     metalloproteinase (MMP) sub-family. MMPs are responsible
                     for a great deal of pericellular proteolysis of
                     extracellular matrix and cell surface molecules, playing
                     crucial roles in morphogenesis, cell fate...; cd04278"
                     /db_xref="CDD:239805"
     Site            order(102,114,121..127,137,164..165,174,184..186)
                     /site_type="active"
                     /note="TIMP-binding surface [active]"
                     /db_xref="CDD:239805"
     Site            order(164..165,168,174)
                     /site_type="active"
                     /db_xref="CDD:239805"
     Region          245..439
                     /region_name="HX"
                     /note="Hemopexin-like repeats.; Hemopexin is a
                     heme-binding protein that transports heme to the liver.
                     Hemopexin-like repeats occur in vitronectin and some
                     matrix metalloproteinases family (matrixins). The HX
                     repeats of some matrixins bind tissue inhibitor of...;
                     cd00094"
                     /db_xref="CDD:238046"
     Site            order(253,255,302,304,348,350,396,398)
                     /site_type="metal-binding"
                     /note="Metal binding sites [ion binding]"
                     /db_xref="CDD:238046"
     CDS             1..519
                     /gene="MMP17"
                     /gene_synonym="MMP-17; MT4-MMP; MT4MMP; MTMMP4"
                     /coded_by="XM_011538356.4:203..1762"
                     /db_xref="GeneID:4326"
                     /db_xref="HGNC:HGNC:7163"
                     /db_xref="MIM:602285"
ORIGIN      
        1 mqqfggleat gildeatlal mktprcslpd lpvltqarrr rqapaptkwn krnlswrvrt
       61 fprdsplghd tvralmyyal kvwsdiapln fhevagsaad iqidfskadh ndgypfdgpg
      121 gtvahaffpg hhhtagdthf dddeawtfrs sdahgmdlfa vavhefghai glshvaaahs
      181 imrpyyqgpv gdplryglpy edkvrvwqly gvresvspta qpeeppllpe ppdnrssapp
      241 rkdvphrcst hfdavaqirg eafffkgkyf wrltrdrhlv slqpaqmhrf wrglplhlds
      301 vdavyertsd hkivffkgdr ywvfkdnnve egyprpvsdf slppggidaa fswahndrty
      361 ffkdqlywry ddhtrhmdpg ypaqsplwrg vpstlddamr wsdgasyffr gqeywkvldg
      421 elevapgypq stardwlvcg dsqadgsvaa gvdaaegpra ppgqhdqsrs edgyevcsct
      481 sgassppgap gplvaatmll llpplspgal wtaaqaltl
//
LOCUS       XP_047285076            1650 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF21A isoform X7 [Homo sapiens].
ACCESSION   XP_047285076
VERSION     XP_047285076.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429120.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1650
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1650
                     /product="kinesin-like protein KIF21A isoform X7"
                     /calculated_mol_wt=184154
     Region          8..372
                     /region_name="KISc_KIF4"
                     /note="Kinesin motor domain, KIF4-like subfamily; cd01372"
                     /db_xref="CDD:276823"
     Site            order(17,88,91,93..96,274)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276823"
     Site            order(324,327,330)
                     /site_type="other"
                     /note="microtubule interaction site [polypeptide binding]"
                     /db_xref="CDD:276823"
     Region          <364..823
                     /region_name="Cast"
                     /note="RIM-binding protein of the cytomatrix active zone;
                     pfam10174"
                     /db_xref="CDD:431111"
     Region          <631..991
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          923..1004
                     /region_name="Rcc_KIF21A"
                     /note="regulatory coiled-coil domain found in kinesin-like
                     protein KIF21A; cd22263"
                     /db_xref="CDD:410204"
     Site            order(926..927,930..931,933..934,937..938,940..941,
                     944..945,947..948,951..952,954..955,958..959,962,965..966,
                     972..973,975..976,979..980,982..983,986..987,989..990,
                     993..994,996..997,1000..1001)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:410204"
     Region          1315..1628
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(1322,1338,1342,1348..1349,1361..1362,1380,
                     1389..1390,1403..1404,1443,1453..1454,1467,1487,1492,
                     1498..1499,1517..1518,1534,1538,1544..1545,1558..1559,
                     1576,1581,1587..1588,1600..1601,1617,1621,1627..1628)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          1366..1425
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1431..1466
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1471..1515
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1523..1556
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1563..1599
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..1650
                     /gene="KIF21A"
                     /gene_synonym="CFEOM1; FEOM1; FEOM3A"
                     /coded_by="XM_047429120.1:151..5103"
                     /db_xref="GeneID:55605"
                     /db_xref="HGNC:HGNC:19349"
                     /db_xref="MIM:608283"
ORIGIN      
        1 mlgapdessv rvavrirpql akekiegchi ctsvtpgepq vflgkdkaft fdyvfdidsq
       61 qeqiyiqcie kliegcfegy natvfaygqt gagktytmgt gfdvniveee lgiisravkh
      121 lfksieekkh iaiknglpap dfkvnaqfle lyneevldlf dttrdidaks kksnirihed
      181 stggiytvgv ttrtvntese mmqclklgal srttastqmn vqssrshaif tihvcqtrvc
      241 pqidadnatd nkiisesaqm nefetltakf hfvdlagser lkrtgatger akegisincg
      301 llalgnvisa lgdkskrath vpyrdskltr llqdslggns qtimiacvsp sdrdfmetln
      361 tlkyanrarn iknkvmvnqd rasqqinalr seitrlqmel meyktgkrii deegvesind
      421 mfhenamlqt ennnlrvrik amqetvdalr sritqlvsdq anhvlarage gneeisnmih
      481 syikeiedlr aklleseavn enlrknltra tarapyfsgs stfsptilss dketieiidl
      541 akkdleklkr kekrkkksva gkedntdtdq ekkeekgvse rennelevee sqevsdhede
      601 eeeeeeeedd idggessdes dsesdekany qadlanitce iaikqklide lensqkrlqt
      661 lkkqyeeklm mlqhkirdtq lerdqvlqnl gsvesyseek akkvrseyek klqamnkelq
      721 rlqaaqkeha rllknqsqye kqlkklqqdv memkktkvrl mkqmkeeqek arltesrrnr
      781 eiaqlkkdqr krdhqlrlle aqkrnqevvl rrkteevtal rrqvrpmsdk vagkvtrkls
      841 ssdapaqdtg ssaaavetda srtgaqqkmr ipvarvqalp tpatngnrkk yqrkgltgrv
      901 fisktarmkw qllerrvtdi imqkmtisnm eadmnrllkq reeltkrrek lskrrekivk
      961 engegdknva nineemeslt anidyindsi sdcqanimqm eeakeegetl dvtavinact
     1021 ltearylldh flsmginkgl qaaqkeaqik vlegrlkqte itsatqnqll fhmlkekael
     1081 npeldallgh alqenvedst dedaplnspg segstlssdl mklcgevkpk nkarrrtttq
     1141 mellyadsse lasdtstgda slpgpltpva egqeigmnte tsgtsareke lspppglpsk
     1201 igsisrqssl sekkipepsp vtrrkayeka ekskakeqkh sdsgtseasl sppssppsrp
     1261 rnelnvfnrl tvsqgntsvq qdksdesdss lsevhrgiin pfpaskgira fplqcihiae
     1321 ghtkavlcvd stddllftgs kdrtckvwnl vtgqeimslg ghpnnvvsvk ycnytslvft
     1381 vstsyikvwd irdsakcirt ltssgqvtlg dacsastsrt vaipsgenqi nqialnptgt
     1441 flyaasgnav rmwdlkrfqs tgkltghlgp vmcltvdqis sgqdliitgs kdhyikmfdv
     1501 tegalgtvsp thnfepphyd giealtiqgd nlfsgsrdng ikkwdltqkd llqqvpnahk
     1561 dwvcalgvvp dhpvllsgcr ggilkvwnmd tfmpvgemkg hdspinaicv nsthiftaad
     1621 drtvriwkar nlqdgqisdt gdlgediasn
//
LOCUS       XP_047285652            1321 aa            linear   PRI 20-MAR-2023
DEFINITION  lysine-specific demethylase 2B isoform X17 [Homo sapiens].
ACCESSION   XP_047285652
VERSION     XP_047285652.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429696.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1321
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1321
                     /product="lysine-specific demethylase 2B isoform X17"
                     /calculated_mol_wt=151099
     Region          145..220
                     /region_name="JmjC"
                     /note="A domain family that is part of the cupin
                     metalloenzyme superfamily; smart00558"
                     /db_xref="CDD:214721"
     Region          192..298
                     /region_name="cupin_RmlC-like"
                     /note="RmlC-like cupin superfamily; cl40423"
                     /db_xref="CDD:454753"
     Region          297..>332
                     /region_name="JHD"
                     /note="Jumonji helical domain; pfam17811"
                     /db_xref="CDD:436061"
     Region          470..536
                     /region_name="CTD_KDM2B"
                     /note="C-terminal domain found in Lysine-specific
                     demethylase 2B; cd21785"
                     /db_xref="CDD:412026"
     Region          <578..614
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     Region          624..685
                     /region_name="PHD_KDM2B"
                     /note="PHD finger found in Lysine-specific demethylase 2B
                     (KDM2B); cd15644"
                     /db_xref="CDD:277114"
     Site            order(624,647..651,655,680)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277114"
     Region          985..1029
                     /region_name="F-box_FBXL10"
                     /note="F-box domain found in F-box/LRR-repeat protein 10
                     (FBXL10) and similar proteins; cd22180"
                     /db_xref="CDD:438951"
     Site            order(990..991,993..995,997..998,1000..1002,1004..1005,
                     1008..1009,1011..1013,1017)
                     /site_type="other"
                     /note="Skp1 binding site [polypeptide binding]"
                     /db_xref="CDD:438951"
     Region          1027..1051
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1043..1232
                     /region_name="AMN1"
                     /note="Antagonist of mitotic exit network protein 1;
                     cd09293"
                     /db_xref="CDD:187754"
     Region          1052..1075
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1076..1099
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1100..1139
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1140..1164
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1165..1194
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1195..1219
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1220..1245
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     CDS             1..1321
                     /gene="KDM2B"
                     /gene_synonym="CXXC2; Fbl10; FBXL10; JHDM1B; PCCX2"
                     /coded_by="XM_047429696.1:34..3999"
                     /db_xref="GeneID:84678"
                     /db_xref="HGNC:HGNC:13610"
                     /db_xref="MIM:609078"
ORIGIN      
        1 mrqllrpidr qrydenedls dveeivsvrg fsleeklrsq lyqgdfvham egkdfnyeyv
       61 qrealrvpli frekdglgik mpdpdftvrd vkllvgsrrl vdvmdvntqk gtemsmsqfv
      121 ryyetpeaqr dklynvisle fshtklehlv krptvvdlvd wvdnmwpqhl kekqteatna
      181 iaemkypkvk kyclmsvkgc ftdfhidfgg tsvwyhvfrg gkifwlippt lhnlalyeew
      241 vlsgkqsdif lgdrvercqr ielkqgytff ipsgwihavy tpvdslvfgg nilhsfnvpm
      301 qlriyeiedr trvqpkfryp fyyemcwyvl eryvycvtqr shltqeyqre smlidaprkp
      361 sidgfssdsw lemeeeacdq qpqeeeekde egegrdrapk pptdgstspt stpsedqeal
      421 gkkpkapalr flkrtlsnes eesvksttla vdypktptgs patevsakwt hltefelkgl
      481 kalveklesl penkkcvpeg iedpqalleg vknvlkehad ddpslaitgv pvvtwpkktp
      541 knravgrpkg klgpasavkl aanrttagar rrrtrcrkce aclrtecgec hfckdmkkfg
      601 gpgrmkqsci mrqciapvlp htavclvcge agkedtveee egkfnlmlme csicneiihp
      661 gclkikeseg vvndelpncw ecpkcnhagk tgkqkrgpgf kyasnlpgsl lkeqkmnrdn
      721 kegqepakrr seceeaprrr sdehskkvpp dgllrrksdd vhlrkkrkye kpqelsgrkr
      781 lkpgkedklf rkkrrswkna edrmalankp lrrfkqeped elpeappktr esdhsrsssp
      841 tagpstegae gpeekkkvkm rrkrrlpnke lsrelskeln heiqrtensl anenqqpiks
      901 epesegeepk rppgicerph rfskglngtp relrhqlgps lrspprvisr pppsvsppkc
      961 iqmerhvirp ppispppdsl plddgaahvm hrevwmavfs ylshqdlcvc mrvcrtwnrw
     1021 ccdkrlwtri dlnhcksitp lmlsgiirrq pvsldlswtn iskkqlswli nrlpglrdlv
     1081 lsgcswiavs alcssscpll rtldvqwveg lkdaqmrdll spptdnrpgq mdnrsklrni
     1141 velrlagldi tdaslrliir hmpllsklhl sycnhvtdqs inlltavgtt trdslteinl
     1201 sdcnkvtdqc lsffkrcgni chidlryckq vtkegceqfi aemsdeesiq kinpskpglh
     1261 lpgsplvcfi flyflinfrn lfcmppqgkg istynchldt hltvlevsyt dlsplksvhi
     1321 f
//
LOCUS       XP_011533320             818 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein kinase FLT3 isoform X2 [Homo
            sapiens].
ACCESSION   XP_011533320
VERSION     XP_011533320.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011535018.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..818
                     /product="receptor-type tyrosine-protein kinase FLT3
                     isoform X2"
                     /calculated_mol_wt=93545
     Region          81..170
                     /region_name="ig"
                     /note="Immunoglobulin domain; pfam00047"
                     /db_xref="CDD:395002"
     Region          93..97
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          107..111
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          139..142
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          152..157
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          165..168
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          397..772
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(441..444,447,449,467,469,500,516..519,636,640..641,
                     643,653..654)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     CDS             1..818
                     /gene="FLT3"
                     /gene_synonym="CD135; FLK-2; FLK2; STK1"
                     /coded_by="XM_011535018.3:115..2571"
                     /db_xref="GeneID:2322"
                     /db_xref="HGNC:HGNC:3765"
                     /db_xref="MIM:136351"
ORIGIN      
        1 menqdalvci sesvpepive wvlcdsqges ckeespavvk keekvlhelf gtdirccarn
       61 elgrectrlf tidlnqtpqt tlpqlflkvg eplwirckav hvnhgfgltw elenkaleeg
      121 nyfemstyst nrtmirilfa fvssvarndt gyytcssskh psqsalvtiv ekgfinatns
      181 sedyeidqye efcfsvrfka ypqirctwtf srksfpceqk gldngysisk fcnhkhqpge
      241 yifhaendda qftkmftlni rrkpqvlaea sasqascfsd gyplpswtwk kcsdkspnct
      301 eeitegvwnr kanrkvfgqw vssstlnmse aikgflvkcc aynslgtsce tillnspgpf
      361 pfiqdnisfy atigvcllfi vvltllichk ykkqfryesq lqmvqvtgss dneyfyvdfr
      421 eyeydlkwef prenlefgkv lgsgafgkvm nataygiskt gvsiqvavkm lkekadsser
      481 ealmselkmm tqlgsheniv nllgactlsg piylifeycc ygdllnylrs krekfhrtwt
      541 eifkehnfsf yptfqshpns smpgsrevqi hpdsdqisgl hgnsfhsede ieyenqkrle
      601 eeedlnvltf edllcfayqv akgmeflefk scvhrdlaar nvlvthgkvv kicdfglard
      661 imsdsnyvvr gnarlpvkwm apeslfegiy tiksdvwsyg illweifslg vnpypgipvd
      721 anfykliqng fkmdqpfyat eeiyiimqsc wafdsrkrps fpnltsflgc qladaeeamy
      781 qnvdgrvsec phtyqnrrpf sremdlglls pqaqveds
//
LOCUS       XP_047286182            1016 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine nucleotide exchange factor DBS isoform X18 [Homo sapiens].
ACCESSION   XP_047286182
VERSION     XP_047286182.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430226.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1016
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..1016
                     /product="guanine nucleotide exchange factor DBS isoform
                     X18"
                     /calculated_mol_wt=115346
     Region          76..221
                     /region_name="SEC14"
                     /note="Domain in homologues of a S. cerevisiae
                     phosphatidylinositol transfer protein (Sec14p);
                     smart00516"
                     /db_xref="CDD:214706"
     Site            order(93,95,97,121,135,137,145,149,153,157,160,163,165,
                     172,180,192)
                     /site_type="other"
                     /note="phospholipid binding pocket [chemical binding]"
                     /db_xref="CDD:238099"
     Site            order(158,191)
                     /site_type="other"
                     /note="salt bridge"
                     /db_xref="CDD:238099"
     Region          352..539
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            457..462
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          632..809
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(638,642,739,761..762,765..766,768..769,772..773,
                     776..777,780,805,809)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          816..947
                     /region_name="PH_Dbs"
                     /note="DBL's big sister protein pleckstrin homology (PH)
                     domain; cd01227"
                     /db_xref="CDD:269934"
     Site            order(886,888)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:269934"
     CDS             1..1016
                     /gene="MCF2L"
                     /gene_synonym="ARHGEF14; DBS; OST"
                     /coded_by="XM_047430226.1:102..3152"
                     /db_xref="GeneID:23263"
                     /db_xref="HGNC:HGNC:14576"
                     /db_xref="MIM:609499"
ORIGIN      
        1 mfdcwrfilc krpgsnsyss pqrpneakke etdhqidvsd virlvqdtpe atamatdeim
       61 hqdivplcaa diqdqlkkrf aylsggrgqd gspvitfpdy pafseipdke fqnvmtylts
      121 ipslqdagig filvidrrrd kwtsvkasvl riaasfpanl qlvlvlrptg ffqrtlsdia
      181 fkfnrddfkm kvpvimlssv pdlhgyidks qltedlggtl dychsrwlcq rtaiesfalm
      241 vkqtaqmlqs fgtelaetel pndvqstssv lcahtekkdk akedlrlalk eghsvleslr
      301 elqaegseps vnqdqldnqa tvqrllaqln eteaafdefw akhqqkleqc lqlrhfeqgf
      361 revkaildaa sqkiatftdi gnslahvehl lrdlasfeek sgvaverara lsldgeqlig
      421 nkhyavdsir pkcqelrhlc dqfsaeiarr rgllskslel hrrletsmkw cdegiyllas
      481 qpvdkcqsqd gaeaalqeie kfletgaenk iqelnaiyke yesilnqdlm ehvrkvfqkq
      541 asmeevfhrr qaslkklaar qtrpvqpvap rpealakspc pspgirrgse nssseggalr
      601 rgpyrrakse msesrqgrgs ageeeeslai lrrhvmsell dterayveel lcvlegyaae
      661 mdnplmahll stglhnkkdv lfgnmeeiyh fhnriflrel enytdcpelv grcflermed
      721 fqiyekycqn kprseslwrq csdcpffqec qrkldhklsl dsyllkpvqr itkyqlllke
      781 mlkysrnceg aedlqealss ilgilkavnd smhliaitgy dgnlgdlgkl lmqgsfsvwt
      841 dhkrghtkvk elarfkpmqr hlflhekavl fckkreenge gyekapsysy kqslnmaavg
      901 itenvkgdak kfeiwynare evyivqaptp eikaawvnei rkvltsqlqa creasqhral
      961 eqsqslplpa ptstspsrgn srnikkleer ktdplslegy vssapltkpp ekgkep
//
LOCUS       XP_047287491             463 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit
            gamma isoform isoform X10 [Homo sapiens].
ACCESSION   XP_047287491
VERSION     XP_047287491.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431535.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..463
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..463
                     /product="serine/threonine-protein phosphatase 2A 56 kDa
                     regulatory subunit gamma isoform isoform X10"
                     /calculated_mol_wt=54236
     Region          18..405
                     /region_name="B56"
                     /note="Protein phosphatase 2A regulatory B subunit (B56
                     family); pfam01603"
                     /db_xref="CDD:426341"
     CDS             1..463
                     /gene="PPP2R5C"
                     /gene_synonym="B56G; B56gamma; PR61G"
                     /coded_by="XM_047431535.1:371..1762"
                     /db_xref="GeneID:5527"
                     /db_xref="HGNC:HGNC:9311"
                     /db_xref="MIM:601645"
ORIGIN      
        1 mfklhfrhsw qeyfrdvppa dqeklfiqkl rqccvlfdfv sdplsdlkwk evkraalsem
       61 veyithnrnv itepiypevv hmfavnmfrt lppssnptga efdpeedept leaawphlql
      121 vyefflrfle spdfqpniak kyidqkfvlq llelfdsedp rerdflkttl hriygkflgl
      181 rayirkqinn ifyrfiyete hhngiaelle ilgsiingfa lplkeehkif llkvllplhk
      241 vkslsvyhpq laycvvqfle kdstltepvv mallkywpkt hspkevmfln eleeildvie
      301 psefvkimep lfrqlakcvs sphfqvaera lyywnneyim slisdnaaki lpimfpslyr
      361 nskthwnkti hgliynalkl fmemnqklfd dctqqfkaek lkhrkirrrt vllhaaspsc
      421 lrtptprkpw kltagpmswp prtaaslrga asgpgppvlf ril
//
LOCUS       XP_024305434             647 aa            linear   PRI 20-MAR-2023
DEFINITION  X-linked retinitis pigmentosa GTPase regulator-interacting protein
            1 isoform X11 [Homo sapiens].
ACCESSION   XP_024305434
VERSION     XP_024305434.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024449666.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..647
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..647
                     /product="X-linked retinitis pigmentosa GTPase
                     regulator-interacting protein 1 isoform X11"
                     /calculated_mol_wt=73780
     Region          475..640
                     /region_name="RPGR1_C"
                     /note="Retinitis pigmentosa G-protein regulator
                     interacting C-terminal; pfam18111"
                     /db_xref="CDD:407945"
     CDS             1..647
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /coded_by="XM_024449666.1:67..2010"
                     /db_xref="GeneID:57096"
                     /db_xref="HGNC:HGNC:13436"
                     /db_xref="MIM:605446"
ORIGIN      
        1 mlkldnkdvi shplgypses llsiasmlds sdsssqphws neliaeqlqq qvsqlqdqld
       61 aeledkrkvl lelsrekaqn edlklevtni lqkhkqevel lqnaatisqp pdrqsepath
      121 pavlqentqi epsepknqee kklsqvlnel qvshaettle lektrdmlil qrkinvcyqe
      181 eleammtkad ndnrdhkekl erltrlldlk nnrikqlegi lrshdlptse qlkdvaygtr
      241 plslcletlp ahgdedkvdi sllhqgdfnl tdpaekpngs iqvqldwkfp yippesflkp
      301 eaqtkgkdtk dsskisseee kasfpsqdqm aspevpieag qyrskrkpph ggerkekehq
      361 vvsysrrkhg krigvqgknr meylslniln gntpevnyte wkfsetnsfi gdgfknqhee
      421 eemtlshsal kqkeplhpvn dkesseqgse vseaqttdsd dvivppmsqk ypkadsekmc
      481 ieivslafyp eaevmsdeni kqvyveykfy dlplsetetp vslrkprage eihfhfskvi
      541 dldpqeqqgr rrflfdmlng qdpdqghlkf tvvsdpldee kkeceevgya ylqlwqiles
      601 grdileqeld ivspedlatp igrlkvslqa aavlhaiyke mtedlfs
//
LOCUS       XP_016877226             725 aa            linear   PRI 20-MAR-2023
DEFINITION  DDB1- and CUL4-associated factor 5 isoform X5 [Homo sapiens].
ACCESSION   XP_016877226
VERSION     XP_016877226.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017021737.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..725
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..725
                     /product="DDB1- and CUL4-associated factor 5 isoform X5"
                     /calculated_mol_wt=79811
     Region          21..55
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          61..114
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <67..186
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     CDS             1..725
                     /gene="DCAF5"
                     /gene_synonym="BCRG2; BCRP2; D14S1461E; WDR22"
                     /coded_by="XM_017021737.2:166..2343"
                     /db_xref="GeneID:8816"
                     /db_xref="HGNC:HGNC:20224"
                     /db_xref="MIM:603812"
ORIGIN      
        1 mwewgsllry ggnlslqsam svrfnsngtq llalrrrlpp vlydihsrlp vfqfdnqgyf
       61 nsctmksccf agdrdqyils gsddfnlymw ripadpeagg igrvvngafm vlkghrsivn
      121 qvrfnphtym icssgvekii kiwspykqpg ctgdldgrie ddsrclythe eyislvlnsg
      181 sglshdyanq svqedprmma ffdslvrrei egwssdsdsd lsestilqlh agvsersgyt
      241 dsessaslpr sppptvdesa dnafhlgplr vtttntvast pptptcedaa srqqrlsalr
      301 ryqdkrllal snesdseenv ceveldtdlf prprspsped esssssssss sedeeelner
      361 rastwqrnam rrrqkttred kpsapikptn tyigednydy pqikvddlss sptssperst
      421 stleiqpsra sptsdiesve rkiykaykwl rysyisysnn kdgetslvtg eadegragts
      481 hkdnpapsss keaclniama qrnqdlppeg cskdtfkeet prtpsngpgh ehsshawaev
      541 pegtsqdtgn sgsvehpfet kklngkalss raeeppsppv pkasgstlns gsgncprtqs
      601 ddseerslet icanhnngrl hprpphphnn gqnlgelevv aysspghsdt drdnssltgt
      661 llhkdccgse macetpnagt redptdtpat dssravhghs glkrqriele dtdsenssse
      721 kklkt
//
LOCUS       XP_016877359              96 aa            linear   PRI 20-MAR-2023
DEFINITION  cAMP-regulated phosphoprotein 19 isoform X4 [Homo sapiens].
ACCESSION   XP_016877359
VERSION     XP_016877359.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017021870.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..96
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..96
                     /product="cAMP-regulated phosphoprotein 19 isoform X4"
                     /calculated_mol_wt=10504
     Region          12..87
                     /region_name="Endosulfine"
                     /note="cAMP-regulated phosphoprotein/endosulfine conserved
                     region; pfam04667"
                     /db_xref="CDD:398375"
     CDS             1..96
                     /gene="ARPP19"
                     /gene_synonym="ARPP-16; ARPP-19; ARPP16; ENSAL"
                     /coded_by="XM_017021870.3:110..400"
                     /db_xref="GeneID:10776"
                     /db_xref="HGNC:HGNC:16967"
                     /db_xref="MIM:605487"
ORIGIN      
        1 medkvtspek aeeaklkary phlgqkpggs dflrkrlqkg qkyfdsgdyn makakmknkq
       61 lptaapdkte vtgdhiptpq dlpqrkpslv asklag
//
LOCUS       XP_047289149             481 aa            linear   PRI 20-MAR-2023
DEFINITION  FERM domain-containing protein 5 isoform X1 [Homo sapiens].
ACCESSION   XP_047289149
VERSION     XP_047289149.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433193.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..481
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..481
                     /product="FERM domain-containing protein 5 isoform X1"
                     /calculated_mol_wt=54363
     Region          <2..121
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          102..206
                     /region_name="FERM_C_FRMD3_FRMD5"
                     /note="FERM domain C-lobe of FERM domain-containing
                     protein 3 and 5 (FRMD3 and 5); cd13192"
                     /db_xref="CDD:270013"
     Site            order(125,142,144,150)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270013"
     Site            order(154,159..162,195,199,202..203)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270013"
     Site            195..206
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270013"
     Region          220..>254
                     /region_name="FA"
                     /note="FERM adjacent (FA); pfam08736"
                     /db_xref="CDD:430180"
     CDS             1..481
                     /gene="FRMD5"
                     /gene_synonym="NEDEMA"
                     /coded_by="XM_047433193.1:386..1831"
                     /db_xref="GeneID:84978"
                     /db_xref="HGNC:HGNC:28214"
                     /db_xref="MIM:616309"
ORIGIN      
        1 mcfrvkfypa dpaalkeeit rylvflqikr dlyhgrllck tsdaallaay ilqaeigdyd
       61 sgkhpegyss kfqffpkhse klerkiaeih ktelsgqtpa tselnflrka qtletygvdp
      121 hpckdvsgna aflaftpfgf vvlqgnkrvh fikwnevtkl kfegktfyly vsqkeekkii
      181 ltyfaptpea ckhlwkcgie nqafykleks sqvrtvsssn lffkgsrfry sgrvakevme
      241 ssakikrepp eihragmvps rscpsithgp rlssvprtrr ravhisimeg leslrdsahs
      301 tpvrstshgd tflphvrssr tdsnervavi adeayspads vlptpvaehs lelmllsrqi
      361 ngatcsieee keseastpta tevealggel ralcqghsgp eeeqvnkfvl svlrlllvtm
      421 gllfvlllll iiltesdldi affrdirqtp efeqfhyqyf cplrrwfack irsvvsllid
      481 t
//
LOCUS       XP_047290192             523 aa            linear   PRI 20-MAR-2023
DEFINITION  protein arginine N-methyltransferase 7 isoform X18 [Homo sapiens].
ACCESSION   XP_047290192
VERSION     XP_047290192.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434236.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..523
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..523
                     /product="protein arginine N-methyltransferase 7 isoform
                     X18"
                     /calculated_mol_wt=58989
     Region          37..>186
                     /region_name="COG4076"
                     /note="Predicted RNA methylase [General function
                     prediction only]"
                     /db_xref="CDD:226562"
     CDS             1..523
                     /gene="PRMT7"
                     /gene_synonym="SBIDDS"
                     /coded_by="XM_047434236.1:165..1736"
                     /db_xref="GeneID:54496"
                     /db_xref="HGNC:HGNC:25557"
                     /db_xref="MIM:610087"
ORIGIN      
        1 mkifcsranp ttgsvewlee dehydyhqei arssyadmlh dkdrnvkyyq giraavsrvk
       61 drgqkalvld igtgtgllsm mavtagadfc yaievfkpma daavkivekn gfsdkikvin
      121 khstevtvgp egdmpcrani lvtelfdtel igegalpsye hahrhlveen ceavphratv
      181 yaqlvesgrm wswnklfpih vqtslgeqvi vppvdvescp gapsvcdiql nqvspadftv
      241 lsdvlpmfsi dfskqvsssa achsrrfepl tsgraqvvls wwdiemdpeg kikctmapfw
      301 ahsdpeemqw rdhwmqcvyf lpqeepvvqg salylvahhd dycvwyslqr tspeknervr
      361 qmrpvcdcqa hllwnrprfg eindqdrtdr yvqalrtifk anhledkini iekrpelltn
      421 edlqgrkvsl llgepfftts llpwhnlyfw yvrtavdqhl gpgamvmpqa aslhavvvef
      481 rvcreqqdvp lvlaatlpcv laggcgrgcs fltgpvadpe plw
//
LOCUS       XP_047290397             438 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X5 [Homo
            sapiens].
ACCESSION   XP_047290397
VERSION     XP_047290397.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434441.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..438
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..438
                     /product="acyl-coenzyme A synthetase ACSM3, mitochondrial
                     isoform X5"
                     /calculated_mol_wt=49354
     Region          54..>409
                     /region_name="AFD_class_I"
                     /note="Adenylate forming domain, Class I superfamily;
                     cl17068"
                     /db_xref="CDD:450147"
     Site            order(232,235..240,242..243)
                     /site_type="other"
                     /note="acyl-activating enzyme (AAE) consensus motif"
                     /db_xref="CDD:341228"
     CDS             1..438
                     /gene="ACSM3"
                     /gene_synonym="SA; SAH"
                     /coded_by="XM_047434441.1:3563..4879"
                     /db_xref="GeneID:6296"
                     /db_xref="HGNC:HGNC:10522"
                     /db_xref="MIM:145505"
ORIGIN      
        1 mlarvtrkml rhakcfqrla ifgsvralhk dnrtatpqnf snyesmkqdf klgipeyfnf
       61 akdvldqwtd kekagkkpsn pafwwinrng eemrwsfeel gslsrkfani lseacslqrg
      121 drvililprv pewwlanvac lrtgtvlipg ttqltqkdil yrlqsskanc iitndvlapa
      181 vdavaskcen lhsklivsen sregwgnlke lmkhasdsht cvktkhneim aifftsgtsg
      241 ypkmtahths sfglglsvng rfwldltpsd vmwntsdtgw aksawssvfs pwiqgacvft
      301 hhlprfepts ilqtlskypi tvfcsaptvy rmlvqndits ykfkslkhcv sagepitpdv
      361 tekwrnktgl diyegygqte tvlicgnfkg mkikpgsmgk pspafdvkvc tspsrrmfnn
      421 pictlptyrl ppyklsll
//
LOCUS       XP_047291725            1117 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 57 isoform X6 [Homo sapiens].
ACCESSION   XP_047291725
VERSION     XP_047291725.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435769.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1117
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1117
                     /product="coiled-coil domain-containing protein 57 isoform
                     X6"
                     /calculated_mol_wt=125587
     Region          <99..441
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          <312..639
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          <901..1109
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..1117
                     /gene="CCDC57"
                     /coded_by="XM_047435769.1:67..3420"
                     /db_xref="GeneID:284001"
                     /db_xref="HGNC:HGNC:27564"
ORIGIN      
        1 mavatlrqsv eevkkntgsq vflensncfs stlipqessa qrktsvikcg grgrfspahe
       61 qsvlpqtrrv sfgsvptppa wrevrpqaat mlplgsepal nelllrkeee wralqahrtq
      121 lqeaalqdtr sqleeaqgkl rclqedfvyn lqvleerdle lerydaafaq areweearra
      181 evselkieaa klrqalarea rkveelqqqq qlafqehrle lervhsdkng eidhhreqye
      241 nlkwtlerkl eeldgelalq rqelllefes kmrkrehefr lqadnmsnta lsrelkvkll
      301 hkelealkea gakaaeslqr aeatnaeler klqsragelq dleamsrarv kdledklhsv
      361 qltrkkeeet fkrkheeldr larekdavlv avkgahveql qelqtrvlel qahcetleaq
      421 lrraewrqad takekdaaid qlredastvk sawdaqiaql skemvsrdlq iqtlqeeevk
      481 lkaqvarsqq dierykqqls laverersle rdqvqlgldw qrrcddierd qiqksealiq
      541 glsmaksqva aklqeteqal qeqevvlkav tlerdqavqa lrmhglprpg aqmllrqhee
      601 eiskdfpsse iqrlreqnts lrnaiaqmrk emealshqip ppiqtaaest danqpdpeag
      661 gdaatpdyvl aleaeirtlk hkfktlekhl edvldplkms sphaesqpsv rtstettggs
      721 aqagqaggsv qagqaggsvq agpvssglal rklgdrvqll nllvtrlrqk vlreplepaa
      781 lqrelprevd qvhlevlelr kqvaelgkhl riaqhggaep sgrkqppasd avalgreglt
      841 krgpmeaedq gelflhlrsv arapqtlsmh rlqrklkeaa rkiislrlek eqliemgnrl
      901 raelgrperw llhhalppap earkpgeepr rpldrspplg qvqphftsqd aksaedeaps
      961 rhlgkhqprs aqvgsrldal qgpktqhsih tvtcksprqk edrspkppqa pqhpeehgrq
     1021 shssssfasg tlqdmwrlld lgsspsgvts qgdstpelpa ppaadrrpvk mqagiatpgm
     1081 ktaaqakakt tgasrshpak akgcqrppki rnynimd
//
LOCUS       XP_016880889            2523 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor corepressor 1 isoform X2 [Homo sapiens].
ACCESSION   XP_016880889
VERSION     XP_016880889.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017025400.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2523
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..2523
                     /product="nuclear receptor corepressor 1 isoform X2"
                     /calculated_mol_wt=278893
     Region          149..238
                     /region_name="GPS2_interact"
                     /note="G-protein pathway suppressor 2-interacting domain;
                     pfam15784"
                     /db_xref="CDD:434935"
     Region          449..491
                     /region_name="SANT"
                     /note="'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains.
                     Tandem copies of the domain bind telomeric DNA tandem
                     repeatsas part of the capping complex. Binding is sequence
                     dependent for repeats which contain the G/C rich motif
                     [C2-3 A (CA)1-6]. The domain is...; cd00167"
                     /db_xref="CDD:238096"
     Site            order(449,478..479,481..482,484..486,488..490)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238096"
     Region          636..679
                     /region_name="Myb_DNA-binding"
                     /note="Myb-like DNA-binding domain; pfam00249"
                     /db_xref="CDD:425555"
     Site            order(637,666..667,669..670,672..674,676..678)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238096"
     Region          <692..>866
                     /region_name="PRK08691"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236333"
     CDS             1..2523
                     /gene="NCOR1"
                     /gene_synonym="hN-CoR; N-CoR; N-CoR1; PPP1R109; TRAC1"
                     /coded_by="XM_017025400.3:1101..8672"
                     /db_xref="GeneID:9611"
                     /db_xref="HGNC:HGNC:7672"
                     /db_xref="MIM:600849"
ORIGIN      
        1 msssgyppnq gafsteqsry pphsvqytfp ntrhqqefav pdyrsshlev sqasqllqqq
       61 qqqqlrrrps llsefhpgsd rpqerrtsye pfhpgpspvd hdsleskrpr leqvsdshfq
      121 rvsaavlplv hplpeglras adakkdpafg gkheapsspi sgqpcgddqn aspsklskee
      181 liqsmdrvdr eiakveqqil klkkkqqqle eeaakppepe kpvspppveq khrsivqiiy
      241 denrkkaeea hkifeglgpk velplynqps dtkvyhenik tgvparrmmk nqvmrkklil
      301 ffkrrnhark qreqkicqry dqlmeawekk vdriennprr kakesktrey yekqfpeirk
      361 qreqqerfqr vgqrgaglsa tiarseheis eiidglseqe nnekqmrqls vippmmfdae
      421 qrrvkfinmn glmedpmkvy kdrqfmnvwt dhekeifkdk fiqhpknfgl iasylerksv
      481 pdcvlyyylt kknenykalv rrnygkrrgr nqqiarpsqe ekveekeedk aektekkeee
      541 kkdeeekdek edskentkek dkidgtaeet eereqatprg rktansqgrr kgritrsmtn
      601 eaaaasaaaa aateeppppl ppppepiste pvetsrwtee emevakkglv ehgrnwaaia
      661 kmvgtkseaq cknfyfnykr rhnldnllqq hkqktsrkpr eerdvsqces vastvsaqed
      721 edieasneee npedsegaen ssdtesapsp spveavkpse dspenatsrg ntepavelep
      781 ttetapstsp slavpstkpa edesvetqvn dsisaetaeq mdvdqqehsa eegsvcdppp
      841 atkadsvdve vrvpenhask vegdntkerd ldrasekvep rdedlvvaqq inaqrpepqs
      901 dndssatcsa dedvdgeper qrmfpmdskp sllnptgsil vssplkpnpl dlpqlqhraa
      961 vippmvsctp cnipigtpvs gyalyqrhik amhesallee qrqrqeqidl ecrsstspcg
     1021 tskspnrewe gksvaympya evkraleqea qmhntaarsa spcrlsprev skaapqpdms
     1081 aarysvppvl qpaphqvitn lpegvrlptt rptrppppli psskttvase kpsfimggsi
     1141 sqgtpgtylt shnqasytqe tpkpsvgsis lglprqqesa ksatlpyikq eefsprsqns
     1201 qpegllvraq hegvvrgtag aiqegsitrg tptskisves ipslrgsitq gtpalpqtgi
     1261 ptealvkgsi srmpiedssp ekgreeaask ghviyegksg hilsydnikn aregtrsprt
     1321 aheislkrsy esvegnikqg msmrespvsa pleglicral prgsphsdlk ertvlsgsim
     1381 qgtprattes fedglkypkq ikresppira fegaitkgkp ydgittikem grsiheiprq
     1441 diltqesrkt pevvqstrpi iegsisqgtp ikfdnnsgqs aikhnvksli tgpsklsrgm
     1501 ppleivpeni kvvergkyed vkagetvrsr htsvvssgps vlrstlheap kaqlspgiyd
     1561 dtsarrtpvs yqntmsrgsp mmnrtsdvti ssnkstnher kstltptqre sipakspvpg
     1621 vdpvvshspf dphhrgstag evyrshlpth ldpampfhra ldpaaaaylf qrqlsptpgy
     1681 psqyqlyame ntrqtilndy itsqqmqvnl rpdvarglsp reqplglpyp atrgiidltn
     1741 mpptilvphp ggtstppmdr ityipgtqit fpprpynsas mspghpthla aaasaerere
     1801 rerekerere riaaassdly lrpgseqpgr pgshgyvrsp spsvrtqetm lqqrpsvfqg
     1861 tngtsvitpl dptaqlrimp lpaggpsisq glpasrynta adalaalvda aasapqmdvs
     1921 ktkeskheaa rleenlrsrs aavseqqqle qktlevekrs vqclytssaf psgkpqphss
     1981 vvyseagkdk gpppksryee elrtrgktti taanfidvii trqiasdkda rergsqssds
     2041 ssslsshrye tpsdaievis passpappqe klqtyqpevv kanqaendpt rqyegplhhy
     2101 rpqqespspq qqlppssqae gmgqvprthr litladhicq iitqdfarnq vssqtpqqpp
     2161 tstfqnspsa lvstpvrtkt snryspesqa qsvhhqrpgs rvspenlvdk srgsrpgksp
     2221 ershvssepy episppqvpv vhekqdslll lsqrgaepae qrndarspgs isylpsfftk
     2281 lentspmvks kkqeifrkln ssgggdsdma aaqpgteifn lpavttsgsv ssrghsfadp
     2341 asnlgledii rkalmgsfdd kvedhgvvms qpmgvvpgta ntsvvtsget rreegdpsph
     2401 sggvckpkli sksnsrksks pipgqgylgt erpssvssvh segdyhrqtp gwawedrpss
     2461 tgstqfpynp ltmrmlsstp ptpiacapsa vnqaaphqqn riwerepapl lsaqyetlsd
     2521 sdd
//
LOCUS       XP_006722487            1102 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase NEDD4-like isoform X7 [Homo sapiens].
ACCESSION   XP_006722487
VERSION     XP_006722487.3
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006722424.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_006722487.2.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1102
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..1102
                     /product="E3 ubiquitin-protein ligase NEDD4-like isoform
                     X7"
                     /calculated_mol_wt=124039
     Region          <79..404
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <379..432
                     /region_name="C2"
                     /note="C2 domain; cl14603"
                     /db_xref="CDD:449331"
     Region          477..503
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Site            order(489,500)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          658..708
                     /region_name="WW"
                     /note="Domain with 2 conserved Trp (W) residues;
                     smart00456"
                     /db_xref="CDD:197736"
     Site            order(674,703)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Site            order(751,782,793,855,1028,1063..1064,1067..1071,1091,
                     1098)
                     /site_type="active"
                     /note="catalytic cleft [active]"
                     /db_xref="CDD:238033"
     Region          769..1098
                     /region_name="HECTc"
                     /note="Domain Homologous to E6-AP Carboxyl Terminus with;
                     smart00119"
                     /db_xref="CDD:214523"
     Site            order(883,886..887,889..890,893,898,900,904..905,907,912,
                     917,934,938)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..1102
                     /gene="NEDD4L"
                     /gene_synonym="hNEDD4-2; NEDD4-2; NEDD4.2; PVNH7; RSP5"
                     /coded_by="XM_006722424.4:126..3434"
                     /db_xref="GeneID:23327"
                     /db_xref="HGNC:HGNC:7728"
                     /db_xref="MIM:606384"
ORIGIN      
        1 mahrlrfhfg sgrsntapes dildqeredd ffmafhtlpr rssphpfaqn ggedgggglq
       61 ggvgalkrss smfipqllts idarptcsss vqislqrkat dgatdgcgpp egaddgppca
      121 tpdprdqasa tattraspqs gsrepsprdt pgssppraar dpglqvngtc grrvrcsgpv
      181 dcaeeaapgl riqhrassad vrqvrllplg pdgqggpaaa eprrwslqhv pdasgssgkr
      241 cfvfqlqqpq qgasgpgsdl nfgftgtkgd rlvryprirl erstsyptqp rsergspted
      301 rgaleaspra grmapeirrt nsaertpqgq gctfkirqdq nagqqhfril vtrgpeeapq
      361 npeeksaksp vstgadtttr ddflgqvdvp lshlptedpt merpytfkdf llrprshksr
      421 vkgflrlkma ympknggqde ensdqrddme hgwevvdsnd sasqhqeelp ppplppgwee
      481 kvdnlgrtyy vnhnnrttqw hrpslmdvss esdnnirqin qeaahrrfrs rrhisedlep
      541 epseggdvpe pwetiseevn iagdslglal ppppaspgsr tspqelseel srrlqitpds
      601 ngeqfssliq repssrlrsc svtdavaeqg hlppedprlk fpvhmrskts lnpndlgplp
      661 pgweerihld grtfyidhss qvlcgendtr esvpsydski tqwedprlqn paitgpavpy
      721 srefkqkydy frkklkkpad ipnrfemklh rnnifeesyr rimsvkrpdv lkarlwiefe
      781 sekgldyggv arewffllsk emfnpyyglf eysatdnytl qinpnsglcn edhlsyftfi
      841 grvaglavfh gklldgffir pfykmmlgkq itlndmesvd seyynslkwi lendpteldl
      901 mfcideenfg qtyqvdlkpn gseimvtnen kreyidlviq wrfvnrvqkq mnaflegfte
      961 llpidlikif denelellmc glgdvdvndw rqhsiykngy cpnhpviqwf wkavllmdae
     1021 krirllqfvt gtsrvpmngf aelygsngpq lftieqwgsp eklprahtcf nrldlppyet
     1081 fedlrekllm avenaqgfeg vd
//
LOCUS       XP_005258685             413 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 584 isoform X2 [Homo sapiens].
ACCESSION   XP_005258685
VERSION     XP_005258685.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005258628.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..413
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..413
                     /product="zinc finger protein 584 isoform X2"
                     /calculated_mol_wt=47288
     Region          9..69
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          153..173
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <181..366
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          208..228
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(213,215,217,219..220,223..224,227,241,243,247..248,
                     251..252,255,269,271,273,275..276,279..280,283)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          236..256
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          264..284
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          292..312
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          320..340
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          348..368
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          374..396
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          376..396
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..413
                     /gene="ZNF584"
                     /coded_by="XM_005258628.6:500..1741"
                     /db_xref="GeneID:201514"
                     /db_xref="HGNC:HGNC:27318"
ORIGIN      
        1 mageaeglvm fedvtvyfsr eewgllnvtq kglyrdvmle nfalvsslgl apsrspvftq
       61 leddeqswvp swvdvtpvsr aearrgfgld glcrvedera hpehlksyrv iqhqdthseg
      121 kprrhtehga afppgsscgq qqevhvaekl fkcsdcgkvf lkafalldhl ithseerpfr
      181 cptgrsafkk sahinprkih tgetahvcne cgkafsypsk lrkhqkvhtg ikpfkcsdcg
      241 ktfnrkdalv lhqrihtger pyecskcgkt fsvlstlirh rkvhigerpy ectecgkffk
      301 ynnsfilhqr vhtgerpfec kqcgkgyvtr sglyqhwkvh tgerpyecsl cgktfttrsy
      361 rnrhqqfhte ersyectecg kafkhsstll qhkkvhtper rqedrahgkv vsc
//
LOCUS       XP_047295444             182 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha/beta hydrolase domain-containing protein 17A isoform X2 [Homo
            sapiens].
ACCESSION   XP_047295444
VERSION     XP_047295444.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439488.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..182
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..182
                     /product="alpha/beta hydrolase domain-containing protein
                     17A isoform X2"
                     /calculated_mol_wt=19540
     Region          <113..>177
                     /region_name="FrsA"
                     /note="Fermentation-respiration switch protein FrsA, has
                     esterase activity, DUF1100 family [Signal transduction
                     mechanisms]; COG1073"
                     /db_xref="CDD:223999"
     CDS             1..182
                     /gene="ABHD17A"
                     /gene_synonym="C19orf27; FAM108A1"
                     /coded_by="XM_047439488.1:384..932"
                     /db_xref="GeneID:81926"
                     /db_xref="HGNC:HGNC:28756"
                     /db_xref="MIM:617942"
ORIGIN      
        1 mnglslselc clfccppcpg riaaklaflp peatyslvpe pepgpggaga aplgtlrass
       61 gapgrwklhl teradfqysq reldtievfp tksargnrvs cmyvrcvpga rytvlfshgn
      121 avdlgqmssf yiglgsrlhc nifsydysgy gassgrpser nlyadidaaw qalrtrnlgp
      181 el
//
LOCUS       XP_016859525            1847 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 36A isoform X20 [Homo
            sapiens].
ACCESSION   XP_016859525
VERSION     XP_016859525.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004036.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1847
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1847
                     /product="ankyrin repeat domain-containing protein 36A
                     isoform X20"
                     /calculated_mol_wt=207059
     Region          36..128
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          36..62
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(66,70..71,74..76,78..79,83,86,95,97,99,103..104,
                     107..109,111..112,116,119,128,130,132,136..137,140..142,
                     144..145,149,152)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          66..95
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          97..128
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          130..154
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          135..227
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          163..194
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          <523..1085
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          1206..>1836
                     /region_name="CCDC158"
                     /note="Coiled-coil domain-containing protein 158;
                     pfam15921"
                     /db_xref="CDD:435022"
     Region          1443..1733
                     /region_name="CCDC144C"
                     /note="CCDC144C protein coiled-coil region; pfam14915"
                     /db_xref="CDD:434310"
     CDS             1..1847
                     /gene="ANKRD36"
                     /gene_synonym="UNQ2430"
                     /coded_by="XM_017004036.2:588..6131"
                     /db_xref="GeneID:375248"
                     /db_xref="HGNC:HGNC:24079"
                     /db_xref="MIM:620262"
ORIGIN      
        1 medgkrerwp tlmerlcsdg fafpqypikp yhlkrihrav lhgnleklky llltyydank
       61 rdrkertalh lacatgqpem vhllvsrrce lnlcdredrt plikavqlrq eacatlllqn
      121 ganpnitdff grtalhyavy nedtsmiekl lshgtnieec skceyqpllf avsrrkvkmv
      181 efllkkkanv naidylgrsa lihavtlgek divilllqhn idvlsrdafr kiagdyaiea
      241 knrvifdliy eyerkryedl pinsnpvssq kqpalkatsg kedsisniat eikdgqksgt
      301 vssqkqpalk dtsdkddsvs ntateikdeq ksgtvlpave qclnrslyrp davaqpvten
      361 efsleseiis klyipkrkii sprsikdvlp pveeavdrcl ylldrfaqpv tkdkfalese
      421 nisepyftnr rtisqqsaen ldaacgidkt engnmfedqn vdkegkalpa tgqkanvspe
      481 qpplfthtvk drdhistrfl ggmdsltsse esserpplst ltlkeadpss kaamrrkdsp
      541 ppgkvssqkq paekatsddk dsvsniatei kegpisgtvs sqkqpaekat sdekdsvsni
      601 ateikkgqqs gtvspqkqsa wkvifkkkvs llniatrimg ggksgtvssq kqpaskatsd
      661 ktdsalniat eikdglqcgt vssqkqpalk attdeedsvs niateikdge ksgtvssqkq
      721 palkattdee dsvsniatei kdgeksgtvs sqkqpalkat tdekdsvsni ateikdgeks
      781 gtvssqkppa ltatsdeegs vlsiarenkd geksrtvssr kkpalkatsd ekdsfsnitr
      841 gkkdgeisrk vssqkpptlk gtsdeedsvl giarenkdge ksrtvssekp pglkassaek
      901 dsvlniargk kdgektkrvs srkkpsleat sdekdsfsni trekkdgeis rkvssqkppa
      961 lkgtsdeeds vlgiarenkd geksrtvsse kpsglkatsa ekdsvlniar gkkygektkr
     1021 vssrkkpalk atsdekdsvl yiarekkdge ksrtvsspkq palkaicdke dsvpnmatek
     1081 kdeqisgtvs cqkqpalkat sdkkdsvsni pteikdgqqs gtvssqkqpa wkatsvkkds
     1141 vsniateikd gqirgtvspq kqsaqkvifk kkvsllniat ritggwksgt eypenlptlk
     1201 atienknsvl ntatkmkdvq tstpaeqdle masegeqkrl eeyennqpqv knqihsrddl
     1261 ddiiqssqtv sedgdslccn cknvillidq hemkckdcvh llkikntfcl wkrliklkdn
     1321 hceqlrvkir klknkasvlq krisekeeik sqlkheilel ekelcslrfa iqqekkkrrn
     1381 veevhqkvre klriteeqyr ieadvtkpik palksaevel ktggnnsnqv setdekedll
     1441 henrlmqdei arlrlekdti knqnlekkyl kdfeivkrkh edlqkalkrn getlaktiac
     1501 ysgqlaaltd enttlrskle kqresrqrle temqsyhcrl naarcdhdqs hsskrdqela
     1561 fqgtvdkcrh lqenlnshvl ilslqlskae sksrvlktel hytgealkek alvfehvqse
     1621 lkqkqsqmkd iekmyksgyn tmekciekqe rfcqlkkqnm llqqqlddar nkadnqekai
     1681 lniqarcdar vqnlqaecrk hrllleednk mlvnelnhsk ekecqyekek aerevavrql
     1741 qqkrddvlnk gsatkallda ssrhctylen gmqdsrkkld qmrsqfqeiq dqltatirct
     1801 kemegdtqkl evehvmmrki ikkqddqier lekilqhssl mlqvfes
//
LOCUS       XP_005246653            8463 aa            linear   PRI 20-MAR-2023
DEFINITION  nebulin isoform X7 [Homo sapiens].
ACCESSION   XP_005246653
VERSION     XP_005246653.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005246596.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8463
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..8463
                     /product="nebulin isoform X7"
                     /calculated_mol_wt=979456
     Region          113..142
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          183..212
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          253..283
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          537..567
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          578..605
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          616..643
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          789..816
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          825..852
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          863..890
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          893..922
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          924..953
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          1028..1058
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          1107..1134
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          1168..1198
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          1237..1267
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          1272..1300
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          1313..1340
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          1351..1378
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          1481..1511
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          1516..1546
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          1595..1622
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          1761..1790
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          1839..1866
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          1900..1928
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          1969..1998
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          2005..2034
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          2083..2110
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          2249..2278
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          2327..2354
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          2456..2486
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          2496..2523
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          2570..2597
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          2739..2766
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          2813..2840
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          3056..3083
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          3185..3215
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          3299..3326
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          3428..3458
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          3468..3495
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          3572..3602
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          3608..3635
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          3671..3701
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          3711..3738
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          3785..3812
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          3914..3943
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          3950..3979
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          3990..4017
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          4157..4187
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          4233..4259
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          4271..4298
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          4405..4432
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          4476..4503
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          4643..4673
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          4719..4745
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          4757..4784
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          4886..4916
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          4962..4989
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          5129..5159
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          5205..5231
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          5243..5270
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          5377..5404
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          5448..5475
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          5615..5645
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          5655..5682
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          6106..6133
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          6948..6975
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          7579..7609
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          7689..7717
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          7766..7792
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          7832..7858
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          8018..8043
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          8049..8074
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          8111..8140
                     /region_name="NEBU"
                     /note="The Nebulin repeat is present also in Las1;
                     smart00227"
                     /db_xref="CDD:128523"
     Region          8213..8240
                     /region_name="Nebulin"
                     /note="Nebulin repeat; pfam00880"
                     /db_xref="CDD:425925"
     Region          8406..8463
                     /region_name="SH3_Nebulin_C"
                     /note="C-terminal Src Homology 3 domain of Nebulin;
                     cd11933"
                     /db_xref="CDD:212866"
     Site            order(8413,8415,8418,8422,8440..8441,8456,8458..8459)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212866"
     CDS             1..8463
                     /gene="NEB"
                     /gene_synonym="AMC6; NEB177D; NEM2"
                     /coded_by="XM_005246596.3:193..25584"
                     /db_xref="GeneID:4703"
                     /db_xref="HGNC:HGNC:7720"
                     /db_xref="MIM:161650"
ORIGIN      
        1 maddedyeev veyyteevvy eevpgetitk iyettttrts dyeqsetskp alaqpalaqp
       61 asakpverrk virkkvdpsk fmtpyiahsq kmqdlfspnk ykekfektkg qpyasttdtp
      121 elrrikkvqd qlsevkyrmd gdvaktichv dekakdieha kkvsqqvskv lykqnwedtk
      181 dkyllppdap elvqavknta mfskklyted weadkslfyp yndspelrrv aqaqkalsdv
      241 aykkglaeqq aqftpladpp diefakkvtn qvskqkyked yenkikgkws etpcfevana
      301 rmnadnistr kyqedfenmk dqiyfmqtet peykmnkkag vaaskvkyke dyeknkgkad
      361 ynvlpasenp qlrqlkaagd alsdklyken yektkaksin ycetpkfkld tvlqnfssdk
      421 kykdsylkdi lghyvgsfed pyhshcmkvt aqnsdknyka eyeedrgkgf fpqtitqeye
      481 aikkldqckd htykvhpdkt kftqvtdspv llqaqvnskq lsdlnykakh esekfkchip
      541 pdtpafiqhk vnaynlsdnl ykqdwekska kkfdikvdai pllaakantk ntsdvmykkd
      601 yeknkgkmig vlsinddpkm lhslkvaknq sdrlykenye ktkaksmnyc etpkyqldtq
      661 lknfsearyk dlyvkdvlgh yvgsmedpyh thcmkvaaqn sdksykaeye edkgkcyfpq
      721 titqeyeaik kldqckdhty kvhpdktkft avtdspvllq aqlntkqlsd lnykakhege
      781 kfkchipada pqfiqhrvna ynlsdnvykq dwekskakkf dikvdaipll aakantknts
      841 dvmykkdyek skgkmigals inddpkmlhs lktaknqsdr eyrkdyeksk tiytapldml
      901 qvtqakksqa iasdvdykhi lhsysyppds invdlakkay alqsdveyka dynswmkgcg
      961 wvpfgsleme kakrasdiln ekkyrqhpdt lkftsiedap itvqskinqa qrsdiaykak
     1021 geeiihkynl ppdlpqfiqa kvnaynisen mykadlkdls kkgydlrtda ipiraakaar
     1081 qaasdvqykk dyekakgkmv gfqslqddpk lvhymnvaki qsdreykkdy ektkskyntp
     1141 hdmfnvvaak kaqdvvsnvn ykhslhhyty lpdamdlels knmmqiqsdn vykedynnwm
     1201 kgigwipigs ldvekvkkag dalnekkyrq hpdtlkftsi vdspvmvqak qntkqvsdil
     1261 ykakgedvkh kytmspdlpq flqakcnayn isdvcykrdw ydliakgnnv lgdaipitaa
     1321 kasrniasdy kykeayeksk gkhvgfrslq ddpklvhymn vaklqsdrey kknyentkts
     1381 yhtpgdmvsi taakmaqdva tnvnykqplh hytylpdams lehtrnvnqi qsdnvykdey
     1441 nsflkgigwi pigslevekv kkagdalner kyrqhpdtvk ftsvpdsmgm vlaqhntkql
     1501 sdlnykvege klkhkytidp elpqfiqakv nalnmsdahy kadwkktiak gydlrpdaip
     1561 ivaakssrni asdckykeay ekakgkqvgf lslqddpklv hymnvakiqs dreykkgyea
     1621 sktkyhtpld mvsvtaakks qevatnanyr qsyhhytllp dalnvehsrn amqiqsdnly
     1681 ksdftnwmkg igwvpiesle vekakkagei lsekkyrqhp eklkftyamd tmeqalnksn
     1741 klnmdkrlyt ekwnkdktti hvmpdtpdil lsrvnqitms dklykagwee ekkkgydlrp
     1801 daiaikaara srdiasdyky kkayeqakgk higfrsledd pklvhfmqva kmqsdreykk
     1861 gyeksktsfh tpvdmlsvva akksqevatn anyrnvihty nmlpdamsfe laknmmqiqs
     1921 dnqykadyad fmkgigwlpl gsleaeknkk ameiisekky rqhpdtlkys tlmdsmnmvl
     1981 aqnnakimne hlykqawead ktkvhimpdi pqiilakana inmsdklykl sleeskkkgy
     2041 dlrpdaipik aakasrdias dykykynyek gkgkmvgfrs leddpklvhs mqvakmqsdr
     2101 eykknyentk tsyhtpadml svtaakdaqa nitntnykhl ihkyillpda mnieltrnmn
     2161 riqsdneykq dynewykglg wspagsleve kakkateyas dqkyrqhpsn fqfkkltdsm
     2221 dmvlakqnah tmnkhlytid wnkdktkihv mpdtpdilqa kqnqtlysqk lyklgweeal
     2281 kkgydlpvda isvqlakasr diasdykykq gyrkqlghhv gfrslqddpk lvlsmnvakm
     2341 qsereykkdf ekwktkfssp vdmlgvvlak kcqelvsdvd yknylhqwtc lpdqndvvqa
     2401 kkvyelqsen lyksdlewlr gigwsplgsl eaeknkrase iisekkyrqp pdrnkftsip
     2461 damdivlakt naknrsdrly reawdkdktq ihimpdtpdi vlakanlint sdklyrmgye
     2521 elkrkgydlp vdaipikaak asreiaseyk ykegfrkqlg hhigarnied dpkmmwsmhv
     2581 akiqsdreyk kdfekwktkf sspvdmlgvv lakkcqtlvs dvdyknylhq wtclpdqsdv
     2641 iharqaydlq sdnlyksdlq wlkgigwmts gsledeknkr atqilsdhvy rqhpdqfkfs
     2701 slmdsipmvl aknnaitmnh rlyteawdkd kttvhimpdt pevllakqnk vnyseklykl
     2761 gleeakrkgy dmrvdaipik aakasrdias efkykegyrk qlghhigara irddpkmmws
     2821 mhvakiqsdr eykkdfekwk tkfsspvdml gvvlakkcqt lvsdvdykny lhqwtclpdq
     2881 sdviharqay dlqsdnmyks dlqwmrgigw vsigsldvek ckrateilsd kiyrqppdrf
     2941 kftsvtdsle qvlaknnait mnkrlyteaw dkdktqihim pdtpeimlar mnkinysesl
     3001 yklaneeakk kgydlrsdai pivaakasrd iisdykykdg yckqlghhig arnieddpkm
     3061 mwsmhvakiq sdreykkdfe kwktkfsspv dmlgvvlakk cqtlvsdvdy knylhewtcl
     3121 pdqsdvihar qaydlqsdni yksdlqwlrg igwvpigsmd vvkckratei lsdniyrqpp
     3181 dklkftsvtd sleqvlaknn alnmnkrlyt eawdkdktqi himpdtpeim larqnkinys
     3241 etlyklanee akkkgydlrs daipivaaka srdvisdyky kdgyrkqlgh higarniedd
     3301 pkmmwsmhva kiqsdreykk dfekwktkfs spvdmlgvvl akkcqtlvsd vdyknylhew
     3361 tclpdqndvi harqaydlqs dniyksdlqw lrgigwvpig smdvvkckra aeilsdniyr
     3421 qppdklkfts vtdsleqvla knnalnmnkr lyteawdkdk tqvhimpdtp eimlarqnki
     3481 nyseslyrqa meeakkegyd lrsdaipiva akasrdiasd ykykeayrkq lghhigarav
     3541 hddpkimwsl hiakvqsdre ykkdfekykt rysspvdmlg ivlakkcqtl vsdvdykhpl
     3601 hewiclpdqn diiharkayd lqsdnlyksd lewmkgigwv pidslevvra kragellsdt
     3661 iyrqrpetlk ftsitdtpeq vlaknnalnm nkrlyteawd ndkktihvmp dtpeimlakl
     3721 nrinysdkly klaleeskke gydlrldaip iqaakasrdi asdykykegy rkqlghhiga
     3781 rnikddpkmm wsihvakiqs dreykkefek wktkfsspvd mlgvvlakkc qilvsdidyk
     3841 hplhewtclp dqndviqark aydlqsdaiy ksdlewlrgi gwvpigsvev ekvkrageil
     3901 sdrkyrqpad qlkftcitdt peivlaknna ltmskhlyte awdadktsih vmpdtpdill
     3961 aksnsanisq klytkgwdes kmkdydlrad aisiksakas rdiasdykyk eayekqkghh
     4021 igaqsieddp kimcaihagk iqsereykke fqkwktkfss pvdmlsilla kkcqtlvtdi
     4081 dyrnylhewt cmpdqndiiq akkaydlqsd svykadlewl rgigwmpegs vemnrvkvaq
     4141 dlvnerlyrt rpealsftsi vdtpevvlak anslqisekl yqeawnkdks nitipsdtpe
     4201 mlqahinalq isnklyqkdw ndakqkgydi radaieikha kasreiasey kykegyrkql
     4261 ghhmgfrtlq ddpksvwaih aakiqsdrey kkayekskgi hntpldmmsi vqakkcqvlv
     4321 sdidyrnylh qwtclpdqnd viqakkaydl qsdnlyksdl ewlkgigwlp egsvevmrvk
     4381 naqnllnerl yrikpealkf tsivdtpevi qakinavqis eplyrdawek ekanvnvpad
     4441 tplmlqskin alqisnkryq qawedvkmtg ydlradaigi qhakasrdia sdylyktaye
     4501 kqkghyigcr sakedpklvw aanvlkmqnd rlykkayndh kakisipvdm vsisaakegq
     4561 alasdvdyrh ylhhwscfpd qndviqarka ydlqsdsvyk adlewlrgig wmpegsvemn
     4621 rvkvaqdlvn erlyrtrpea lsftsivdtp evvlakansl qiseklyqea wnkdksniti
     4681 psdtpemlqa hinalqisnk lyqkdwndtk qkgydirada ieikhakasr eiaseykyke
     4741 gyrkqlghhm gfrtlqddpk svwaihaaki qsdreykkay ekskgihntp ldmmsivqak
     4801 kcqvlvsdid yrnylhqwtc lpdqndviqa kkaydlqsdn lyksdlewlk gigwlpegsv
     4861 evmrvknaqn llnerlyrik pealkftsiv dtpeviqaki navqiseply rnawekekan
     4921 vnvpadtplm lqskinalqi snkryqqawe dvkmtgydlr adaigiqhak asrdiasdyl
     4981 yktayekqkg hyigcrsake dpklvwaanv lkmqndrlyk kayndhkaki sipvdmvsis
     5041 aakegqalas dvdyrhylhh wscfpdqndv iqarkaydlq sdsvykadle wlrgigwmpe
     5101 gsvemnrvkv aqdlvnerly rtrpealsft sivdtpevvl akanslqise klyqeawnkd
     5161 ksnitipsdt pemlqahina lqisnklyqk dwndtkqkgy diradaieik hakasreias
     5221 eykykegyrk qlghhmgfrt lqddpksvwa ihaakiqsdr eykkayeksk gihntpldmm
     5281 sivqakkcqv lvsdidyrny lhqwtclpdq ndviqakkay dlqsdnlyks dlewlkgigw
     5341 lpegsvevmr vknaqnllne rlyrikpeal kftsivdtpe viqakinavq iseplyrdaw
     5401 ekekanvnvp adtplmlqsk inalqisnkr yqqawedvkm tgydlradai giqhakasrd
     5461 iasdylykta yekqkghyig crsakedpkl vwaanvlkmq ndrlykkayn dhkakisipv
     5521 dmvsisaake gqalasdvdy rhylhrwscf pdqndviqar kaydlqsdal ykadlewlrg
     5581 igwmpqgspe vlrvknaqni fcdsvyrtpv vnlkytsivd tpevvlaksn aenisipkyr
     5641 evwdkdktsi himpdtpein laranalnvs nklyregwde mkagcdvrld aipiqaakas
     5701 reiasdykyk ldhekqkghy vgtltarddn kirwaliadk lqnereyrld wakwkakiqs
     5761 pvdmlsilhs knsqalvsdm dyrnylhqwt cmpdqndviq akkayelqsd nvykadlewl
     5821 rgigwmpnds vsvnhakhaa difsekkyrt kietlnftpv ddrvdyvtak qsgeilddik
     5881 yrkdwnatks kytltetpll htaqeaaril dqylykegwe rqkatgyilp pdavpfvhah
     5941 hcndvqselk ykaehvkqkg hyvgvptmrd dpklvwfeha gqiqnerlyk edyhktkaki
     6001 nipadmvsvl aakqgqtlvs didyrnylhq wmchpdqndv iqarkaydlq sdnvyradle
     6061 wlrgigwipl dsvdhvrvtk nqemmsqiky kknalenypn frsvvdppei vlakinsvnq
     6121 sdvkyketfn kakgkytfsp dtphishskd mgklystily kgawegtkay gytlderyip
     6181 ivgakhadlv nselkykety ekqkghylag kvigefpgvv hcldfqkmrs alnyrkhyed
     6241 tkanvhipnd mmnhvlakrc qyilsdleyr hyfhqwtsll eepnvirvrn aqeilsdnvy
     6301 kddlnwlkgi gcyvwdtpqi lhakksydlq sqlqytaagk enlqnynlvt dtplyvtavq
     6361 sginasevky kenyhqikdk yttvletvdy drtrnlknly ssnlykeawd rvkatsyilp
     6421 sstlslthak nqkhlashik yreeyekfka lytlprsvdd dpntarclrv gklnidrlyr
     6481 svyeknkmki hivpdmvemv takdsqkkvs eidyrlrlhe wichpdlqvn dhvrkvtdqi
     6541 sdivykddln wlkgigcyvw dtpeilhakh aydlrddiky kahmlktrnd yklvtdtpvy
     6601 vqavksgkql sdavyhydyv hsvrgkvapt tktvdldral hayklqssnl yktslrtlpt
     6661 gyrlpgdtph fkhikdtrym ssyfkykeay ehtkaygytl gpkdvpfvhv rrvnnvtser
     6721 lyrelyhklk dkihttpdtp eirqvkktqe avseliyksd ffkmqghmis lpytpqvihc
     6781 ryvgditsdi kykedlqvlk gfgcflydtp dmvrsrhlrk lwsnylytdk arkmrdkykv
     6841 vldtpeyrkv qelkthlsel vyraagkkqk siftsvpdtp dllrakrgqk lqsqylyvel
     6901 atkerphhha gnqttalkha kdvkdmvsek kykiqyekmk dkytpvpdtp ilirakrayw
     6961 nasdlryket fqktkgkyht vkdaldivyh rkvtddiski kykenymsql giwrsipdrp
     7021 ehfhhravtd tvsdvkyked ltwlkgigcy aydtpdftla eknktlysky kykevfertk
     7081 sdfkyvadsp inrhfkyatq lmnerkykss akmflqhgcn eilrpdmlta lynshmwsqi
     7141 kyrknyeksk dkftsivdtp ehlrttkvnk qisdilykle ynkakprgyt tihdtpmllh
     7201 vrkvkdevsd lkykevyqrn ksnctiepda vhikaakday kvntnldykk qyeankahwk
     7261 wtpdrpdflq aaksslqqsd feykldrefl kgcklsvtdd kntvlalrnt liesdlkyke
     7321 khvkergtch avpdtpqill aktvsnlvse nkykdhvkkh laqgsyttlp etrdtvhvke
     7381 vtkhvsdtny kkkfvkekgk snysimlepp evkhamevak kqsdvayrkd akenlhyttv
     7441 adrpdikkat qaakqaseve yrakhrkegs hglsmlgrpd iemakkaakl ssqvkyrenf
     7501 dkekgktpky npkdsqlykv mkdannlase vkykadlkkl hkpvtdmkes limnhvlnts
     7561 qlassyqykk kyekskghyh tipdnleqlh lkeatelqsi vkykekyeke rgkpmldfet
     7621 ptyitakesq qmqsgkeyrk dyeesikgrn ltglevtpal lhvkyatkia sekeyrkdle
     7681 esirgkglte medtpdmlra knatqilnek eykrdlelev kgrglnaman etpdfmrarn
     7741 atdiasqiky kqsaemekan ftsvvdtpei ihaqqvknls sqkkykedae ksmsyyetvl
     7801 dtpeiqrvre nqknfsllqy qcdlknskgk itvvqdtpei lrvkenqknf ssvlykedvs
     7861 pgtaigktpe mmrvkqtqdh issvkykeai gqgtpipdlp evkrvketqk hissvmyken
     7921 lgtgipttvt peiervkrnq enfssvlyke nlgkgiptpi tpemervkrn qenfssvlyk
     7981 enlgtgipip itpemqrvkh nqenlssvly kenmgkgtpl pvtpemervk hnqenissvl
     8041 ykenmgkgtp lpvtpemerv khnqenissv lykenmgkgt plavtpemer vkhnqeniss
     8101 vlykenvgka tatpvtpemq rvkrnqenis svlykenlgk atptpftpem ervkrnqenf
     8161 ssvlykenmr katptpvtpe merakrnqen issvlysdsf rkqiqgkaay vldtpemrrv
     8221 retqrhistv kyhedfekhk gcftpvvtdp itervkknmq dfsdinyrgi qrkvvemeqk
     8281 rndqdqetit glrvwrtnpg svfdydpaed niqsrslhmi nvqaqrrsre qsrsasalsi
     8341 sggeeksehs eapdhhlsty sdggvfavst aykhakttel pqqrsssvat qqttvssips
     8401 hpstagkifr amydymaada devsfkdgda iinvqaideg wmygtvqrtg rtgmlpanyv
     8461 eai
//
LOCUS       XP_016859812             455 aa            linear   PRI 20-MAR-2023
DEFINITION  mitogen-activated protein kinase kinase kinase 20 isoform X2 [Homo
            sapiens].
ACCESSION   XP_016859812
VERSION     XP_016859812.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004323.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..455
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..455
                     /product="mitogen-activated protein kinase kinase kinase
                     20 isoform X2"
                     /calculated_mol_wt=51452
     Region          22..263
                     /region_name="STKc_MLTK"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Mixed lineage kinase-Like mitogen-activated protein Triple
                     Kinase; cd14060"
                     /db_xref="CDD:270962"
     Site            order(22..26,30,43,45,66,82..85,89,91,133,135,137..138,
                     140,151,154,168..171)
                     /site_type="active"
                     /db_xref="CDD:270962"
     Site            order(22..26,30,43,45,66,82..85,89,133,135,137..138,140,
                     151)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270962"
     Site            order(26,89,91,133,135,137,154,168..171)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270962"
     Site            150..171
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270962"
     CDS             1..455
                     /gene="MAP3K20"
                     /gene_synonym="AZK; CNM6; MLK7; mlklak; MLT; MLTK;
                     MLTKalpha; MLTKbeta; MRK; pk; SFMMP; ZAK"
                     /coded_by="XM_017004323.2:176..1543"
                     /db_xref="GeneID:51776"
                     /db_xref="HGNC:HGNC:17797"
                     /db_xref="MIM:609479"
ORIGIN      
        1 msslgasfvq ikfddlqffe ncgggsfgsv yrakwisqdk evavkkllki ekeaeilsvl
       61 shrniiqfyg vileppnygi vteyaslgsl ydyinsnrse emdmdhimtw atdvakgmhy
      121 lhmeapvkvi hrdlksrnvv iaadgvlkic dfgasrfhnh tthmslvgtf pwmapeviqs
      181 lpvsetcdty sygvvlweml trevpfkgle glqvawlvve knerltipss cprsfaellh
      241 qcweadakkr psfkqiisil esmsndtslp dkcnsflhnk aewrceieat lerlkklerd
      301 lsfkeqelke rerrlkmweq klteqsntpl llplaarmse esyfesktee snsaemscqi
      361 tatsngeghg mnpslqamml mgfgdifsmn kagavmhsgm qinmqakqns skttskrrgk
      421 kvnmalgfsd fdlsegdddd dddgeeednd mdnse
//
LOCUS       XP_047301149            4770 aa            linear   PRI 20-MAR-2023
DEFINITION  baculoviral IAP repeat-containing protein 6 isoform X48 [Homo
            sapiens].
ACCESSION   XP_047301149
VERSION     XP_047301149.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445193.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4770
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..4770
                     /product="baculoviral IAP repeat-containing protein 6
                     isoform X48"
                     /calculated_mol_wt=522177
     Region          184..254
                     /region_name="BIR"
                     /note="Inhibitor of Apoptosis domain; pfam00653"
                     /db_xref="CDD:425801"
     Site            order(212,220,222,229..231,233,237,242,246..247)
                     /site_type="active"
                     /note="peptide binding groove [active]"
                     /db_xref="CDD:237989"
     Site            order(223,226,243,250)
                     /site_type="other"
                     /note="Zn2+ binding site [ion binding]"
                     /db_xref="CDD:237989"
     Region          796..>869
                     /region_name="Nsa1_WDR74-like"
                     /note="Ribosome biogenesis protein Nsa1 and similar
                     proteins; cl45912"
                     /db_xref="CDD:459257"
     Region          3376..3531
                     /region_name="BIRC6"
                     /note="Baculoviral IAP repeat-containing protein 6;
                     pfam12356"
                     /db_xref="CDD:432501"
     Region          4510..4648
                     /region_name="UBCc"
                     /note="Ubiquitin-conjugating enzyme E2, catalytic (UBCc)
                     domain. This is part of the ubiquitin-mediated protein
                     degradation pathway in which a thiol-ester linkage forms
                     between a conserved cysteine and the C-terminus of
                     ubiquitin and complexes with ubiquitin...; cd00195"
                     /db_xref="CDD:238117"
     Site            order(4550..4551,4596..4597)
                     /site_type="active"
                     /note="E3 interaction residues [active]"
                     /db_xref="CDD:238117"
     Site            order(4561,4567,4571..4572,4574,4578..4580,4582..4583,
                     4594..4595,4598,4604,4607,4610,4613,4616,4618,4620..4621)
                     /site_type="active"
                     /note="Ub thioester intermediate interaction residues
                     [active]"
                     /db_xref="CDD:238117"
     Site            4579
                     /site_type="active"
                     /note="active site cysteine"
                     /db_xref="CDD:238117"
     CDS             1..4770
                     /gene="BIRC6"
                     /gene_synonym="APOLLON; BRUCE"
                     /coded_by="XM_047445193.1:612..14924"
                     /db_xref="GeneID:57448"
                     /db_xref="HGNC:HGNC:13516"
                     /db_xref="MIM:605638"
ORIGIN      
        1 mliakpggqv kcqyisavdk vifvddyavg crkdlngill ldtalqtpvs kqddvvqlel
       61 pvteaqqlls aclekvdiss tegydlfitq lkdglkntsh etaanhkvak watvtfhlph
      121 hvlksiasai vnelkkinqn vaalpvassv mdrlsyllps arpelgvgpg rsvdrslmys
      181 eanrretfts wphvgyrwaq pdpmaqagfy hqpassgddr amcftcsvcl vcweptdepw
      241 seherhspnc pfvkgehtqn vplsvtlats paqfpctdgt driscfgsgs cphflaaatk
      301 rgkiciwdvs klmkvhlkfe inaydpaivq qlilsgdpss gvdsrrptla wledssscsd
      361 ipklegdsdd lledsdseeh srsdsvtght sqkeamevsl ditalsilqq peklqweiva
      421 nvledtvkdl eelganpclt nsksektkek hqeqhnipfp cllaggllty kspatspiss
      481 nshrsldgls rtqgesiseq gstdnesctn selnsplvrr tlpvlllysi kesdekagki
      541 fsqmnnimsk slhddgftvp qiiemeldsq eqlllqdppv tyiqqfadaa anltspdsek
      601 wnsvfpkpgt lvqclrlpkf aeeenlcids itpcadgihl lvglrtcpve slsainqvea
      661 lnnlnklnsa lcnrrkgele snlavvngan isviqhespa dvqtpliiqp eqrnvsggyl
      721 vlykmnyatr ivtleeepik iqhikdpqdt itslillppd ildnreddce epiedmqlts
      781 kngferekts distlghlvi ttqggyvkil dlsnfeilak veppkkegte eqdtfvsviy
      841 csgtdrlcac tkggelhflq iggtcddide adilvdgsls kgiepssegs kplsnpsspg
      901 isgvdllvdq pftleiltsl veltrfetlt prfsatvppc wvevqqeqqq rrhpqhlhqq
      961 hhgdaaqhtr twklqtdsns wdehvfelvl pkacmvghvd fkfvlnsnit nipqiqvtll
     1021 knkapglgkv netavdrqit fplspalnie veqngkpslv dlneemqhmd veesqclrlc
     1081 pfledhkedi lcgpvwlasg ldlsghagml tltspklvkg maggkyrsfl ihvkavnerg
     1141 teeicnggmr pvvrlpslkh qsnkgyslas llakvaagke kssnvknent sgtrksenlr
     1201 gcdllqevsv tirrfkktsi skervqrcam lqfsefhekl lntlcrktdd gqitehaqsl
     1261 vldtlcwlag vhsngpgssk egnenllskt rkflsdivrv cffeagrsia hkcarflalc
     1321 isngkcdpcq pafgpvllka lldnmsflpa attggsvywy fvllnyvkde dlagcstaca
     1381 slltavsrql qdrltpmeal lqtryglyss pfdpvlfdle msgsscknvy nssigvqsde
     1441 idlsdvlsgn gkvssctaae gsftsltgll eveplhftcv stsdgtrier ddastftvss
     1501 fgvtpavggl ssgtvgeast alssaaqval qslshamasa eqqlqvlqek qqqllklqqq
     1561 kakleaklhq ttaaaaaaas avgpvhnsvp snpvaapgff ihpsdvippt pkttplfmtp
     1621 pltppneavs vvinaelaql fpgsvidppa vnlaahnkns nksrmnplgs glalaishas
     1681 hflqppphqs iiiermhsga rrfvtldfgr pilltdvlip tcgdlaslsi diwtlgeevd
     1741 grrlvvatdi sthslilhdl ipppvcrfmk itvigrygst narakiplgf yyghtyilpw
     1801 eselklmhdp lkgegesanq peidqhlamm valqediqcr ynlachrlet llqsidlppl
     1861 nsannaqyfl rkpdkaveed srvfsayqdc iqlqlqlnla hnavqrlkva lgasrkmlse
     1921 tsnpedliqt ssteqlrtii rylldtllsl lhasnghsvp avlqstfhaq aceelfkhlc
     1981 isgtpkirlh tglllvqlcg gerwwgqfls nvlqelynse qllifpqdrv fmllscigqr
     2041 slsnsgvles llnlldnlls plqpqlpmhr rtegvldipm iswvvmlvsr lldyvatved
     2101 eaaaakkpln gnqwsfinnn lhtqslnrss kgsssldrly srkirkqlvh hkqqlnllka
     2161 kqkalveqme kekiqsnkgs sykllveqak lkqatskhfk dlirlrrtae wsrsnldtev
     2221 ttakespeie plpftlaher cisvvqklvl fllsmdftch adlllfvckv larianatrp
     2281 tihlceivne pqlerlllll vgtdfnrgdi swggawaqys ltcmlqdila gellapvaae
     2341 ameegtvgdd vgatagdsdd slqqssvqll etideplthd itgapplssl ekdkeidlel
     2401 lqdlmevdid pldidlekdp laakvfkpis stwydywgad ygtynynpyi gglgipvakp
     2461 pantekngsq tvsvsvsqal darlevgleq qaelmlkmms tleadsilqa ltntsptlsq
     2521 sptgtddsll gglqaanqts qliiqlssvp mlnvcfnklf smlqvhhvql esllqlwltl
     2581 slnssstgnk engadiflyn anripvisln qasitsfltv lawypntllr twclvlhslt
     2641 lmtnmqlnsg sssaigtqes tahllvsdpn lihvlvkfls gtsphgtnqh spqvgptatq
     2701 amqefltrlq vhlsstcpqi fsefllklih ilstergafq tgqgpldaqv klleftleqn
     2761 fevvsvstis aviesvtflv hhyitcsdkv msrsgsdssv garacfgglf anlirpgdak
     2821 avcgemtrdq lmfdllklvn ilvqlplsgn reysarvsvt tnttdsvsde ekvsggkdgn
     2881 gsstsvqgsp ayvadlvlan qqimsqilsa lglcnssama miigasglhl tkhenfhggl
     2941 daisvgdglf tilttlskka stvhmmlqpi ltymacgymg rqgslatcql sepllwfilr
     3001 vldtsdalka fhdmggvqli cnnmvtstra ivntarsmvs timkfldsgp nkavdstlkt
     3061 rilasepdna egihnfaplg titsssptaq paevllqatp phrrarsaaw syiflpeeaw
     3121 cdltihlpaa vllkeihiqp hlaslatcps svsvevsadg vnmlplstpv vtsgltyiki
     3181 qlvkaevasa vclrlhrprd astlglsqik llgltafgtt ssatvnnpfl psedqvskts
     3241 igwlrllhhc lthisdlegm masaaaptan llqtcaallm spycgmhspn ievvlvkigl
     3301 qstriglkli dillrncaas gsdptdlnsp llfgrlngls sdstidilyq lgttqdpgtk
     3361 driqallkwv sdsarvaamk rsgrmnymcp nsstveygll mpspshlhcv aailwhsyel
     3421 lveydlpall dqelfellfn wsmslpcnmv lkkavdsllc smchvhpnyf sllmgwmgit
     3481 pppvqchhrl smtddskkqd lsssltddsk naqaplalte shlatlasss qspeaikqll
     3541 dsglpsllvr slasfcfshi sssesiaqsi disqdklrrh hvpqqcnkmp itadlvapil
     3601 rfltevgnsh imkdwlggse vnplwtallf llchsgstsg shnlgaqqts arsaslssaa
     3661 ttglttqqrt aienatvaff lqcischpnn qklmaqvlce lfqtspqrgn lptsgnisgf
     3721 irrlflqlml edekvtmflq spcplykgri natshviqhp mygaghkfrt lhlpvsttls
     3781 dvldrvsdtp sitakliseq kddkekknhe ekekvkaeng fqdnysvvva sglksqskra
     3841 vsatpprpps rrgrtipdki gstsgaeaan kiitvpvfhl fhkllagqpl paemtlaqll
     3901 tllydrklpq gyrsidltvk lgsrvitdps lsktdsykrl hpekdhgdll ascpedealt
     3961 pgdecmdgil deslletcpi qsplqvfagm gglaliaerl pmlypeviqq vsapvvtstt
     4021 qekpkdsdqf ewvtieqsge lvyeapetva aepppiksav qtmspipahs laafglflrl
     4081 pgyaevllke rkhaqcllrl vlgvtddgeg shilqspsan vlptlpfhvl rslfsttplt
     4141 tddgvllrrm aleigalhli lvclsalshh sprvpnssvn qtepqvsssh nptsteeqql
     4201 ywakgtgfgt gstasgwdve qaltkqrlee ehvtcllqvl asyinpvssa vngeaqsshe
     4261 trgqnsnalp svllellsqs clipamssyl rndsvldmar hvplyralle llraiascaa
     4321 mvplllplst engeeeeeqs ecqtsvgtll akmktcvdty tnrlrskren vktgvkpdas
     4381 dqepegltll vpdiqktaei vyaattslrq anqekklgey skkaamkpkp lsvlksleek
     4441 yvavmkklqf dtfemvsede dgklgfkvny hymsqvknan dansaararr laqeavtlst
     4501 slplsssssv fvrcdeerld imkvlitgpa dtpyangcfe fdvyfpqdyp sspplvnlet
     4561 tgghsvrfnp nlyndgkvcl silntwhgrp eekwnpqtss flqvlvsvqs lilvaepyfn
     4621 epgyersrgt psgtqssrey dgnirqatvk wamleqirnp spcfkevihk hfylkrveim
     4681 aqceewiadi qqyssdkrvg rtmshhaaal krhtaqlree llklpcpegl dpdtddapev
     4741 crattgaeet lmhdqvkpss skelpsdfql
//
LOCUS       XP_016860116             564 aa            linear   PRI 20-MAR-2023
DEFINITION  proto-oncogene c-Rel isoform X1 [Homo sapiens].
ACCESSION   XP_016860116
VERSION     XP_016860116.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004627.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..564
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..564
                     /product="proto-oncogene c-Rel isoform X1"
                     /calculated_mol_wt=62494
     Region          8..179
                     /region_name="RHD-n_c-Rel"
                     /note="N-terminal sub-domain of the Rel homology domain
                     (RHD) of c-Rel; cd07933"
                     /db_xref="CDD:143649"
     Site            order(22,24..25,27..28,31,111..112,179)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143649"
     Region          186..281
                     /region_name="IPT_NFkappaB"
                     /note="IPT domain of the transcription factor NFkappaB and
                     related transcription factors. NFkappaB is considered a
                     central regulator of stress responses, activated by
                     different stressful conditions, including physical stress,
                     oxidative stress, and exposure to...; cd01177"
                     /db_xref="CDD:238582"
     Site            order(187,189..191,193..195,230..232,245,256,275,278,280)
                     /site_type="other"
                     /note="ankyrin protein binding site [polypeptide binding]"
                     /db_xref="CDD:238582"
     Site            order(189..190,192,205,207,209,237..238,241,243)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238582"
     Site            order(210,212,238..239)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238582"
     CDS             1..564
                     /gene="REL"
                     /gene_synonym="C-Rel; HIVEN86A; IMD92"
                     /coded_by="XM_017004627.3:268..1962"
                     /db_xref="GeneID:5966"
                     /db_xref="HGNC:HGNC:9954"
                     /db_xref="MIM:164910"
ORIGIN      
        1 masgaynpyi eiieqprqrg mrfrykcegr sagsipgehs tdnnrtypsi qimnyygkgk
       61 vritlvtknd pykphphdlv gkdcrdgyye aefgqerrpl ffqnlgircv kkkevkeaii
      121 trikaginpf nvpekqlndi edcdlnvvrl cfqvflpdeh gnlttalppv vsnpiydnra
      181 pntaelricr vnkncgsvrg gdeifllcdk vqkddievrf vlndweakgi fsqadvhrqv
      241 aivfktppyc kaitepvtvk mqlrrpsdqe vsesmdfryl pdekdtygnk akkqkttllf
      301 qklcqdhepn lfshdavvre mptgvssqae syypspgpis sglshhasma plpssswssv
      361 ahptprsgnt nplssfstrt lpsnsqgipp flripvgndl nasnaciynn addivgmeas
      421 smpsadlygi sdpnmlsncs vnmmttssds mgetdnprll smnlenpscn svldprdlrq
      481 lhqmssssms agansnttvf vsqsdafegs dfscadnsmi nesgpsnstn pnshgfvqds
      541 qysgigsmqn eqlsdsfpye ffqv
//
LOCUS       XP_047301836             167 aa            linear   PRI 20-MAR-2023
DEFINITION  calmodulin-lysine N-methyltransferase isoform X5 [Homo sapiens].
ACCESSION   XP_047301836
VERSION     XP_047301836.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445880.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..167
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..167
                     /product="calmodulin-lysine N-methyltransferase isoform
                     X5"
                     /calculated_mol_wt=18905
     Region          <2..122
                     /region_name="AdoMet_MTases"
                     /note="S-adenosylmethionine-dependent methyltransferases
                     (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes
                     that use S-adenosyl-L-methionine (SAM or AdoMet) as a
                     substrate for methyltransfer, creating the product
                     S-adenosyl-L-homocysteine (AdoHcy); cl17173"
                     /db_xref="CDD:450167"
     CDS             1..167
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /coded_by="XM_047445880.1:111..614"
                     /db_xref="GeneID:79823"
                     /db_xref="HGNC:HGNC:26276"
                     /db_xref="MIM:609559"
ORIGIN      
        1 mtclaglmva isadvkevll tdgnekairn vqdiitrnqk agvfktqkis scvlrwdnet
       61 dvsqleghfd ivmcadclfl dqyraslvda ikrllqprgk amvfaprrgn tlnqfcnlae
      121 kagfciqrhe nydehisnfh sklkkenpdi yeenlhypll liltkhg
//
LOCUS       XP_047301963             198 aa            linear   PRI 20-MAR-2023
DEFINITION  rhomboid-related protein 4 isoform X5 [Homo sapiens].
ACCESSION   XP_047301963
VERSION     XP_047301963.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446007.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..198
                     /product="rhomboid-related protein 4 isoform X5"
                     /calculated_mol_wt=22492
     Region          65..>150
                     /region_name="Rhomboid"
                     /note="Rhomboid family; cl21536"
                     /db_xref="CDD:451297"
     CDS             1..198
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /coded_by="XM_047446007.1:1808..2404"
                     /db_xref="GeneID:84236"
                     /db_xref="HGNC:HGNC:23081"
                     /db_xref="MIM:617515"
ORIGIN      
        1 mqrrsrgint glilllsqif hvginnippv tlatlalniw fflnpqkply ssclsvekcy
       61 qqkdwqrlll splhhaddwh lyfnmasmlw kginlerrlg srwfayvita fsvltgvvyl
      121 llqfavaefm depdfkrsca vgfsgvlfal kvlnnhycpg gfvnilgfpv pnrfacwvel
      181 vaihlfspgt tchfvlki
//
LOCUS       XP_011527476             334 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase 35 isoform X1 [Homo sapiens].
ACCESSION   XP_011527476
VERSION     XP_011527476.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011529174.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_011527476.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..334
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..334
                     /product="serine/threonine-protein kinase 35 isoform X1"
                     /calculated_mol_wt=35408
     Region          73..>201
                     /region_name="PRK12678"
                     /note="transcription termination factor Rho; Provisional"
                     /db_xref="CDD:237171"
     Region          201..>299
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..334
                     /gene="STK35"
                     /gene_synonym="CLIK1; STK35L1"
                     /coded_by="XM_011529174.4:56..1060"
                     /db_xref="GeneID:140901"
                     /db_xref="HGNC:HGNC:16254"
                     /db_xref="MIM:609370"
ORIGIN      
        1 mghqesplar apaggaayvk rlckglswre hveshgslga qaspasaaaa egsatrrara
       61 atsraarsrr qpgpgadhpq agapggkraa rkwrcagqvt iqgpapprpr agrrdeagga
      121 raaplllppp paametgkdg arrgtqsper krrspvprap stklrpaaaa ramdpvaaea
      181 pgeaflarrr peggggsarp rysllaeigr gsygvvyeav agrsgarvav kkircdapen
      241 velalaefwa ltslkrrhqn vvqfeecvlq rnglaqrmsh gnkssqlylr lvetslkgrf
      301 lgthslttsp pedgrgyrww pgrlaisrql dpam
//
LOCUS       XP_047296032            1102 aa            linear   PRI 20-MAR-2023
DEFINITION  activity-dependent neuroprotector homeobox protein isoform X3 [Homo
            sapiens].
ACCESSION   XP_047296032
VERSION     XP_047296032.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440076.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1102
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..1102
                     /product="activity-dependent neuroprotector homeobox
                     protein isoform X3"
                     /calculated_mol_wt=123432
     Region          1..754
                     /region_name="ADNP_N"
                     /note="Activity-dependent neuroprotector homeobox protein
                     N-terminal; pfam19627"
                     /db_xref="CDD:437459"
     Region          491..510
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Site            order(498..500,501..502,506,509,519,522..526,528..529)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275371"
     Region          514..531
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Region          <768..811
                     /region_name="HOX"
                     /note="Homeodomain; smart00389"
                     /db_xref="CDD:197696"
     CDS             1..1102
                     /gene="ADNP"
                     /gene_synonym="ADNP1; HVDAS; MRD28"
                     /coded_by="XM_047440076.1:1777..5085"
                     /db_xref="GeneID:23394"
                     /db_xref="HGNC:HGNC:15766"
                     /db_xref="MIM:611386"
ORIGIN      
        1 mfqlpvnnlg slrkarktvk kilsdigley ckehiedfkq fepndfylkn ttwedvglwd
       61 psltknqdyr tkpfccsacp fsskffsayk shfrnvhsed fenrillncp yctfnadkkt
      121 lethikifha pnasapsssl stfkdknknd glkpkqadsv eqavyyckkc tyrdplyeiv
      181 rkhiyrehfq hvaapyiaka gekslngavp lgsnareess ihckrclfmp ksyealvqhv
      241 iedherigyq vtamightnv vvprskplml iapkpqdkks mglpprigsl asgnvrslps
      301 qqmvnrlsip kpnlnstgvn mmssvhlqqn nygvksvgqg ysvgqsmrlg lggnapvsip
      361 qqsqsvkqll psgngrsygl gseqrsqapa ryslqsanas slssgqlksp slsqsqasrv
      421 lgqssskpaa aatgpppgnt sstqkwkict icnelfpenv ysvhfekehk aekvpavany
      481 imkihnftsk clycnrylpt dtllnhmlih glscpycrst fndvekmaah mrmvhideem
      541 gpktdstlsf dltlqqgsht nihllvttyn lrdapaesva yhaqnnppvp pkpqpkvqek
      601 adipvksspq aavpykkdvg ktlcplcfsi lkgpisdala hhlrerhqvi qtvhpvekkl
      661 tykcihclgv ytsnmtasti tlhlvhcrgv gktqngqdkt napsrlnqsp slapvkrtye
      721 qmefpllkkr kldddsdsps ffeekpeepv vlaldpkghe ddsyearksf ltkyfnkqpy
      781 ptrreiekla aslwlwksdi ashfsnkrkk cvrdcekykp gvllgfnmke lnkvkhemdf
      841 daewlfenhd ekdsrvnask tadkklnlgk eddsssdsfe nleeesnesg spfdpvfeve
      901 pkisndnpee hvlkvipeda seseekldqk edgskyetih lteeptklmh nasdsevdqd
      961 dvvewkdgas psesgpgsqq vsdfedntce mkpgtwsdes sqsedarssk paakkkatmq
     1021 gdreqlkwkn ssygkvegfw skdqsqwkna senderlsnp qiewqnstid sedgeqfdnm
     1081 tdgvaepmhg slagvklssq qa
//
LOCUS       XP_011527712             328 aa            linear   PRI 20-MAR-2023
DEFINITION  ras association domain-containing protein 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011527712
VERSION     XP_011527712.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011529410.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..328
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..328
                     /product="ras association domain-containing protein 2
                     isoform X1"
                     /calculated_mol_wt=37865
     Region          179..265
                     /region_name="RA_RASSF2"
                     /note="Ras-associating (RA) domain found in
                     Ras-association domain-containing protein 2 (RASSF2);
                     cd17221"
                     /db_xref="CDD:340741"
     Region          276..321
                     /region_name="SARAH_RASSF2"
                     /note="C-terminal SARAH domain found in Ras-association
                     domain-containing protein 2 (RASSF2); cd21893"
                     /db_xref="CDD:439187"
     Site            order(277..278,280,282,285,289,292..293,295..296,299..300,
                     303..304,306..307,310..311,314,317..318)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:439187"
     CDS             1..328
                     /gene="RASSF2"
                     /gene_synonym="CENP-34; RASFADIN"
                     /coded_by="XM_011529410.2:160..1146"
                     /db_xref="GeneID:9770"
                     /db_xref="HGNC:HGNC:9883"
                     /db_xref="MIM:609492"
ORIGIN      
        1 mdyshqtslv pcgqdkyisk nelllhlkty nlyyegqnlq lrhreeedef ivegllnisw
       61 glrrpirlqm qddnerirpp psssswhsgc nlgaqgttlk pltvpkvqis evdappegdq
      121 mpsstgtysr glkplqedtp qlmrtrsdvg vrrrgnvrtp sdqrrirrhr fsinghfynh
      181 ktsvftpayg svtnvrinst mttpqvlkll lnkfkiensa eefalyvvht sgekqklkat
      241 dypliarilq gpceqiskvf lmekdqveev tydvaqyikf empvlksfiq klqeeedrev
      301 kklmrkytvl rlmirqrlee iaetpati
//
LOCUS       XP_047296714             168 aa            linear   PRI 20-MAR-2023
DEFINITION  non-histone chromosomal protein HMG-14 isoform X1 [Homo sapiens].
ACCESSION   XP_047296714
VERSION     XP_047296714.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440758.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..168
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..168
                     /product="non-histone chromosomal protein HMG-14 isoform
                     X1"
                     /calculated_mol_wt=20159
     CDS             1..168
                     /gene="HMGN1"
                     /gene_synonym="HMG14"
                     /coded_by="XM_047440758.1:1627..2133"
                     /db_xref="GeneID:3150"
                     /db_xref="HGNC:HGNC:4984"
                     /db_xref="MIM:163920"
ORIGIN      
        1 mvlffrinlq tkkckqkgkg eqrenrpkwl tkklkktylr ktgkrrlrrv qplmkqerkk
       61 pslinnhipc lisgpclpsc tiqrnifiny fvnasflval etflrrresh lipffkckcf
      121 flrgeiicwl fifwynqkiv wdielwealt vsgvsltfhr wgvsfyil
//
LOCUS       XP_011529022             989 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform
            X2 [Homo sapiens].
ACCESSION   XP_011529022
VERSION     XP_011529022.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011530720.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..989
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..989
                     /product="serine/threonine-protein phosphatase 6
                     regulatory subunit 2 isoform X2"
                     /calculated_mol_wt=107341
     Region          150..555
                     /region_name="SAPS"
                     /note="SIT4 phosphatase-associated protein; pfam04499"
                     /db_xref="CDD:398279"
     Region          <789..980
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..989
                     /gene="PPP6R2"
                     /gene_synonym="KIAA0685; PP6R2; SAP190; SAPS2"
                     /coded_by="XM_011530720.3:94..3063"
                     /db_xref="GeneID:9701"
                     /db_xref="HGNC:HGNC:19253"
                     /db_xref="MIM:610877"
ORIGIN      
        1 mdfqdlglvl lrvdlqssaa vtmfwkfdln ttshvdklld kehvtlqelm deddilqeck
       61 aqnqklldfl crqqcmeelv slitqdppld meekvrfkyp ntacelltcd vpqisdrlgg
      121 desllsllyd fldhepplnp llasffskti gnliarkteq vitflkkkdk fislvlkhig
      181 tsalmdlllr lvscvepagl rqdvlhwlne ekviqrlvel ihpsqdedrq snasqtlcdi
      241 vrlgrdqgsq lqealepdpl ltalesrqdc veqllknmfd gdrtesclvs gtqvlltlle
      301 trrvgteglv dsfsqglers yavsssvlhg ieprlkdfhq lllnppkkka ilttigvlee
      361 plgnarlhga rlmaallhtn tpsinqelcr lntmdllldl ffkytwnnfl hfqvelciaa
      421 ilshaareer teasgsesrv epphengnrs letpqpaasl pdntmvthlf qkcclvqril
      481 eaweandhtq aaggmrrgnm ghltrianav vqnlergpvq thisevirgl padcrgrwes
      541 fveetltetn rrntvdlvst hhlhsssede diegafpnel slqqafsdyq iqqmtanfvd
      601 qfgfndeefa dqddninapf driaeinfni dadedspsaa lfeaccsdri qpfdddeded
      661 iwedsdtrca arvmarprfg aphasescsk ngperggqdg kasleahrda pgagappapg
      721 kkeappvegd segamwtavf depanstpta pgvvrdvgss vwaagtsape ekgwakftdf
      781 qpfccsesgp rcsspvdtec shaegsrsqg pekasqasyf avspaspcaw nvcvtrkapl
      841 lasdssssgg shsedgdqka asamdavsrg pgreapplpt varteeavgr vgcadsrlls
      901 pacpapkevt aapavavppe atvaittals kagpaiptpa vssalavavp lgpimavtaa
      961 pamvatlgtv tkdgktdapp egaalngpv
//
LOCUS       XP_024309116             669 aa            linear   PRI 20-MAR-2023
DEFINITION  discoidin, CUB and LCCL domain-containing protein 2 isoform X2
            [Homo sapiens].
ACCESSION   XP_024309116
VERSION     XP_024309116.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453348.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..669
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..669
                     /product="discoidin, CUB and LCCL domain-containing
                     protein 2 isoform X2"
                     /calculated_mol_wt=73613
     Region          <2..80
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Region          87..170
                     /region_name="LCCL"
                     /note="LCCL domain; smart00603"
                     /db_xref="CDD:128866"
     Region          190..342
                     /region_name="FA58C"
                     /note="Coagulation factor 5/8 C-terminal domain, discoidin
                     domain; Cell surface-attached carbohydrate-binding domain,
                     present in eukaryotes and assumed to have horizontally
                     transferred to eubacterial genomes; cd00057"
                     /db_xref="CDD:238014"
     Site            order(235,263,270)
                     /site_type="other"
                     /note="sugar binding site [chemical binding]"
                     /db_xref="CDD:238014"
     CDS             1..669
                     /gene="DCBLD2"
                     /gene_synonym="CLCP1; ESDN"
                     /coded_by="XM_024453348.2:10888..12897"
                     /db_xref="GeneID:131566"
                     /db_xref="HGNC:HGNC:24627"
                     /db_xref="MIM:608698"
ORIGIN      
        1 mgervrikfg dfdiedsdsc hfnylriyng igvsrteigk ycglglqmnh sieskgneit
       61 llfmsgihvs grgflasysv idkqdlitcl dtasnflepe fskycpagcl lpfaeisgti
      121 phgyrdsspl cmagvhagvv sntlggqisv viskgipyye sslannvtsv vghlstslft
      181 fktsgcygtl gmesgviadp qitassvlew tdhtgqensw kpkkarlkkp gppwaafatd
      241 eyqwlqidln kekkitgiit tgstmvehny yvsayrilys ddgqkwtvyr epgveqdkif
      301 qgnkdyhqdv rnnflppiia rfirvnptqw qqkiamkmel lgcqfipkgr ppkltqpppp
      361 rnsndlkntt appkiakgra pkftqplqpr ssnefpaqte qttaspdirn ttvtpnvtkd
      421 valaavlvpv lvmvlttlil ilvcawhwrn rkkktegtyd lpywdragww kgmkqflpak
      481 avdheetpvr ysssevnhls prevttvlqa dsaeyaqplv ggivgtlhqr stfkpeegke
      541 agyadldpyn spgqevyhay aeplpitgpe yatpiimdms ghpttsvgqp ststfkatgn
      601 qppplvgtyn tllsrtdscs saqaqydtpk agkpglpapd elvyqvpqst qevsgagrdg
      661 ecdvfkeil
//
LOCUS       XP_006713035             232 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X4 [Homo
            sapiens].
ACCESSION   XP_006713035
VERSION     XP_006713035.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006712972.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..232
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..232
                     /product="tRNA N(3)-methylcytidine methyltransferase
                     METTL6 isoform X4"
                     /calculated_mol_wt=27288
     Region          84..178
                     /region_name="Methyltransf_12"
                     /note="Methyltransferase domain; pfam08242"
                     /db_xref="CDD:400515"
     Site            order(86..92,110..111,135..137,157)
                     /site_type="other"
                     /note="S-adenosylmethionine binding site [chemical
                     binding]"
                     /db_xref="CDD:100107"
     CDS             1..232
                     /gene="METTL6"
                     /gene_synonym="hMETTL6"
                     /coded_by="XM_006712972.5:268..966"
                     /db_xref="GeneID:131965"
                     /db_xref="HGNC:HGNC:28343"
                     /db_xref="MIM:618903"
ORIGIN      
        1 maslqrkglq ariltseeee klkrdqtlvs dfkqqkleqe aqknwdlfyk rnstnffkdr
       61 hwttrefeel rscrefedqk ltmleagcgv gnclfpllee dpnifayacd fspraieyvk
      121 qnplydterc kvfqcdltkd dlldhvppes vdvvmlifvl savhpdkmhl vlqniykchg
      181 csselrqpwd kddfavtwdp wspairsqtk vwnlgffvgy lavllyymnh rk
//
LOCUS       XP_047303805            1221 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and BTB domain-containing protein 38 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047303805
VERSION     XP_047303805.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447849.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1221
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1221
                     /product="zinc finger and BTB domain-containing protein 38
                     isoform X2"
                     /calculated_mol_wt=136921
     Region          41..154
                     /region_name="BTB_POZ_ZBTB38_CIBZ"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in zinc finger and
                     BTB domain-containing protein 38 (ZBTB38); cd18223"
                     /db_xref="CDD:349532"
     Region          <358..428
                     /region_name="zf-C2H2_8"
                     /note="C2H2-type zinc ribbon; pfam15909"
                     /db_xref="CDD:435011"
     Region          370..390
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          399..418
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          488..508
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(493,495,497,499..500,503..504,507,521,523,527..528,
                     531..532,535,549,551,553,555..556,559..560)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          516..536
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          544..562
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1038..1058
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1043,1045,1047,1049..1050,1053..1054,1057,1071,1073,
                     1077..1078,1081..1082,1085,1099,1101,1103,1105..1106,
                     1109..1110,1113)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          1051..1074
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          1064..1086
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          1066..1086
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1094..1114
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1107..>1125
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          1122..1146
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..1221
                     /gene="ZBTB38"
                     /gene_synonym="CIBZ; PPP1R171; ZNF921"
                     /coded_by="XM_047447849.1:838..4503"
                     /db_xref="GeneID:253461"
                     /db_xref="HGNC:HGNC:26636"
                     /db_xref="MIM:612218"
ORIGIN      
        1 mmstptycnp grsmmsaqdt gtdknsmtvm slsrdlkddf hsdtvlsiln eqrirgilcd
       61 vtiivedtkf kahsnvlaas slyfknifws hticisshvl elddlkaevf teilnyiyss
      121 tvvvkrqetv tdlaaagkkl gisfledltd rnfsnspgpy vfcitekgvv keeknekrhe
      181 epaitngpri tnafsiiete nsnnmfspld lrasfkkvsd smrtaslcle rtdvcheaep
      241 vrtlaehsya vssvaeayrs qpvrehdgss pgntgkence alaakpktcr kpktfsipqd
      301 sdsatenipp ppvsnlevnq erspqpaavl trskspnneg dvhfsreden qssdvpgppa
      361 aevpplvync sccskafdss tllsahmqlh kptqeplvck ycnkqfttln rldrheqicm
      421 rsshmpipgg nqrflenypt igqnggsftg pepllsenri gefsstgstl pdtdhmvkfv
      481 ngqmlyscvv ckrsyvtlss lrrhanvhsw rrtypchycn kvfalaeyrt rheiwhtger
      541 ryqcifclet fmtyyilknh qksfhaidhr lsiskktang glkpsvypyk lyrllpmkck
      601 rapyksyrns syenarensq mnesapgtyv vqnphsselp tlnfqdtvnt ltnspaiple
      661 tsacqdipts anvqnaegtk wgeealkmdl dnnfystevs vsstenavss dlragdvpvl
      721 slsnssenaa svisysgsap svivhssqfs svimhsnaia amtssnhraf sdpavsqslk
      781 ddskpepdkv grfasrpksi kekkkttsht rgeipeesny vadpggslsk ttniaeetsk
      841 ietyiakpal pgtstnsnva plcqitvkig neaivkrhil gsklfykrgr rpkyqmqeep
      901 lpqgndpeps gdsplglcqs ecmemsevfd dasdqdstdk pwrpyynykp kkksrqlkkm
      961 rkvnwrkehg nrspshkcky paeldcavgk apqdkpfeee etkempklqc elcdgdkavg
     1021 agnqgrphrh ltsrpyacel cakqfqspst lkmhmrchtg ekpyqcktcg rcfsvqgnlq
     1081 kherihlglk efvcqycnka ftlnetlkih erihtgekry hcqfcfqrfl ylstkrnheq
     1141 rhirehngkg yacfqcpkic ktaaalgmhq kkhlfkspsq qekigdvche nsnplenqhf
     1201 igsedndqkd niqtgvenvv l
//
LOCUS       XP_047304333             800 aa            linear   PRI 20-MAR-2023
DEFINITION  SID1 transmembrane family member 1 isoform X3 [Homo sapiens].
ACCESSION   XP_047304333
VERSION     XP_047304333.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448377.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..800
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..800
                     /product="SID1 transmembrane family member 1 isoform X3"
                     /calculated_mol_wt=90612
     Region          184..779
                     /region_name="SID-1_RNA_chan"
                     /note="dsRNA-gated channel SID-1; pfam13965"
                     /db_xref="CDD:433611"
     CDS             1..800
                     /gene="SIDT1"
                     /gene_synonym="SID-1; SID1"
                     /coded_by="XM_047448377.1:468..2870"
                     /db_xref="GeneID:54847"
                     /db_xref="HGNC:HGNC:25967"
                     /db_xref="MIM:606816"
ORIGIN      
        1 mrgclrlall calpwlllaa spghpakspr qppaprrdpf daargadfdh vysgvvnlst
       61 eniysfnyts qpdqvtavrv yvnsssenln ypvlvvvrqq kevlswqvpl lfqglyqrsy
      121 nyqevsrtlc pseatnetgp lqqlifvdva smaplgaqyk llvtklkhfq lrtnvafhft
      181 aspsqpqyfl ykfpkdvdsv iikvvsemay pcsvvsvqni mkkdfpgeqf fvvfvikped
      241 yacggsffiq ekenqtwnlq rkknlevtiv psikesvyvk sslfsvfifl sfylgcllvg
      301 fvhylrfqrk sidgsfgsnd gsgnmvashp iaastpegsn ygtidessss pgrqmsssdg
      361 gppgqsdtds sveesdfdtm pdiesdknii rtkmflylsd lsrkdrrivs kkykiyfwni
      421 itiavfyalp viqlvityqt vvnvtgnqdi cyynflcahp lgvlsafnni lsnlghvllg
      481 flfllivlrr dilhrralea kdifaveygi pkhfglfyam gialmmegvl sacyhvcpny
      541 snfqfdtsfm ymiaglcmlk lyqtrhpdin asaysayasf avvimvtvlg vvfgkndvwf
      601 wvifsaihvl aslalstqiy ymgrfkiadl gifrraamvf ytdciqqcsr plymdrmvll
      661 vvgnlvnwsf alfgliyrpr dfasymlgif icnlllylaf yiimklrsse kvlpvplfci
      721 vatavmwaaa lyfffqnlss wegtpaesre knrecilldf fddhdiwhfl satalffsfl
      781 vlltldddld vvrrdqipvf
//
LOCUS       XP_024309399             203 aa            linear   PRI 20-MAR-2023
DEFINITION  presenilins-associated rhomboid-like protein, mitochondrial isoform
            X5 [Homo sapiens].
ACCESSION   XP_024309399
VERSION     XP_024309399.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453631.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..203
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..203
                     /product="presenilins-associated rhomboid-like protein,
                     mitochondrial isoform X5"
                     /calculated_mol_wt=21614
     Region          18..159
                     /region_name="Rhomboid"
                     /note="Rhomboid family; pfam01694"
                     /db_xref="CDD:426384"
     CDS             1..203
                     /gene="PARL"
                     /gene_synonym="PRO2207; PSARL; PSARL1; PSENIP2; RHBDS1"
                     /coded_by="XM_024453631.2:250..861"
                     /db_xref="GeneID:55486"
                     /db_xref="HGNC:HGNC:18253"
                     /db_xref="MIM:607858"
ORIGIN      
        1 miryftsnpa skvlcspmll stfshfslfh maanmyvlws fsssivnilg qeqfmavyls
       61 agvisnfvsy vgkvatgryg pslgasgaim tvlaavctki pegrlaiifl pmftftagna
      121 lkaiiamdta gmilgwkffd haahlggalf gmislytwrl accllghgla csadllpllg
      181 srhvtllqlq aktgnvlgde svf
//
LOCUS       XP_006713791             190 aa            linear   PRI 20-MAR-2023
DEFINITION  short stature homeobox protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_006713791
VERSION     XP_006713791.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006713728.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..190
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..190
                     /product="short stature homeobox protein 2 isoform X3"
                     /calculated_mol_wt=20867
     Site            order(12..16,18,35,41,54,56..57,60..61,63..65,67..68)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          14..67
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     Site            order(14,17,57,60..61,64)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          170..186
                     /region_name="OAR"
                     /note="OAR domain; pfam03826"
                     /db_xref="CDD:427530"
     CDS             1..190
                     /gene="SHOX2"
                     /gene_synonym="OG12; OG12X; SHOT"
                     /coded_by="XM_006713728.4:568..1140"
                     /db_xref="GeneID:6474"
                     /db_xref="HGNC:HGNC:10854"
                     /db_xref="MIM:602504"
ORIGIN      
        1 medegqtkik qrrsrtnftl eqlnelerlf dethypdafm reelsqrlgl searvqvwfq
       61 nrrakcrkqe nqlhkgvlig aasqfeacrv apyvnvgalr mpfqqvqaql qldsavahah
      121 hhlhphlaah apymmfpapp fglplatlaa dsasaasvva aaaaakttsk nssiadlrlk
      181 akkhaaalgl
//
LOCUS       XP_047305222             462 aa            linear   PRI 20-MAR-2023
DEFINITION  ER degradation-enhancing alpha-mannosidase-like protein 1 isoform
            X4 [Homo sapiens].
ACCESSION   XP_047305222
VERSION     XP_047305222.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449266.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..462
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..462
                     /product="ER degradation-enhancing alpha-mannosidase-like
                     protein 1 isoform X4"
                     /calculated_mol_wt=52523
     Region          1..387
                     /region_name="Glyco_hydro_47"
                     /note="Glycosyl hydrolase family 47; pfam01532"
                     /db_xref="CDD:426310"
     CDS             1..462
                     /gene="EDEM1"
                     /gene_synonym="EDEM"
                     /coded_by="XM_047449266.1:4114..5502"
                     /db_xref="GeneID:9695"
                     /db_xref="HGNC:HGNC:18967"
                     /db_xref="MIM:607673"
ORIGIN      
        1 mgnssefqka vklvintvsf dkdstvqvfe atirvlgsll sahriitdsk qpfgdmtikd
       61 ydnellymah dlavrllpaf entktgipyp rvnlktgvpp dtnnetctag agsllvefgi
      121 lsrllgdstf ewvarravka lwnlrsndtg llgnvvniqt ghwvgkqsgl gagldsfyey
      181 llksyilfge kedlemfnaa yqsiqnylrr greacnegeg dpplyvnvnm fsgqlmntwi
      241 dslqaffpgl qvligdveda iclhafyyai wkrygalper ynwqlqapdv lfyplrpelv
      301 estyllyqat knpfylhvgm dilqslekyt kvkcgyatlh hvidkstedr mesfflsetc
      361 kylyllfded npvhksgtry mftteghivs vdehlrelpw keffseeggq dqggksvhrp
      421 kphelkvins ssncnrvpde rryslplksi ymrqidqmvg li
//
LOCUS       XP_011512357             364 aa            linear   PRI 20-MAR-2023
DEFINITION  reticulophagy regulator 1 isoform X3 [Homo sapiens].
ACCESSION   XP_011512357
VERSION     XP_011512357.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514055.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..364
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..364
                     /product="reticulophagy regulator 1 isoform X3"
                     /calculated_mol_wt=40141
     Region          <13..126
                     /region_name="Arl6IP1_RETR3-like"
                     /note="ADP-ribosylation factor-like protein 6-interacting
                     protein 1, Reticulophagy regulator 3, and similar
                     proteins; cl41772"
                     /db_xref="CDD:425403"
     Region          190..>282
                     /region_name="HAD_like"
                     /note="Haloacid Dehalogenase-like Hydrolases; cl21460"
                     /db_xref="CDD:451251"
     CDS             1..364
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /coded_by="XM_011514055.4:516..1610"
                     /db_xref="GeneID:54463"
                     /db_xref="HGNC:HGNC:25964"
                     /db_xref="MIM:613114"
ORIGIN      
        1 mthihavtsp qlrslqaevs wevinskpde rprlshciae swmnfsiflq emslfkqqsp
       61 gkfcllvcsv ctfftilgsy ipgvilsyll llcaflcplf kcndigqkiy skiksvllkl
      121 dfgigeyinq kkrerseadk ekshkddsel dfsalcpkis ltvaakelsv sdtdvsevsw
      181 tdngtfnlse gytpqtdtsd dldrpseevf srdlsdfpsl engmgtnded elslglptel
      241 krkkeqldsg hrpsketqsa agltlplnsd qtfhlmsnla gdvitaavta aikdqlegvq
      301 qalsqaapip eedtdteegd dfelldqsel dqieselglt qdqeaeaqqn kkssgflsnl
      361 lggh
//
LOCUS       XP_047276215             270 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 176B isoform X2 [Homo sapiens].
ACCESSION   XP_047276215
VERSION     XP_047276215.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420259.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..270
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..270
                     /product="transmembrane protein 176B isoform X2"
                     /calculated_mol_wt=28925
     Region          66..229
                     /region_name="CD20"
                     /note="CD20-like family; pfam04103"
                     /db_xref="CDD:427713"
     CDS             1..270
                     /gene="TMEM176B"
                     /gene_synonym="LR8; MS4B2"
                     /coded_by="XM_047420259.1:111..923"
                     /db_xref="GeneID:28959"
                     /db_xref="HGNC:HGNC:29596"
                     /db_xref="MIM:610385"
ORIGIN      
        1 mtqntvivng vamasrpsqp thvnvhihqe saltqllkag gslkkflfhp gdtvpstari
       61 gyeqlalgvt qillgvvscv lgvclslgpw tvlsasgcaf wagsvviaag agaivhekhp
      121 gklagyissl ltlagfatam aavvlcvnsf iwqtepflyi dtvcdrsdpv fpttgyrwmr
      181 rsqenqwqke ecraymqmlr klftairalf lavcvlkviv slvslgvglr nlcgqssqpl
      241 neegsekrll gensvppsps reqtstaivl
//
LOCUS       XP_016867995             406 aa            linear   PRI 20-MAR-2023
DEFINITION  homocysteine-responsive endoplasmic reticulum-resident
            ubiquitin-like domain member 2 protein isoform X1 [Homo sapiens].
ACCESSION   XP_016867995
VERSION     XP_016867995.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017012506.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..406
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..406
                     /product="homocysteine-responsive endoplasmic
                     reticulum-resident ubiquitin-like domain member 2 protein
                     isoform X1"
                     /calculated_mol_wt=45016
     Region          9..85
                     /region_name="Ubl_HERP2"
                     /note="ubiquitin-like (Ubl) domain found in
                     homocysteine-inducible endoplasmic reticulum stress
                     protein HERP2 and similar proteins; cd17119"
                     /db_xref="CDD:340639"
     Site            38
                     /site_type="other"
                     /note="key conserved lysine K27"
                     /db_xref="CDD:340639"
     CDS             1..406
                     /gene="HERPUD2"
                     /coded_by="XM_017012506.3:806..2026"
                     /db_xref="GeneID:64224"
                     /db_xref="HGNC:HGNC:21915"
ORIGIN      
        1 mdqsgmeipv tliikapnqk ysdqtiscfl nwtvgklkth lsnvypskpl tkdqrlvysg
       61 rllpdhlqlk dilrkqdeyh mvhlvctsrt ppsspksstn reshealass snsssdhsgs
      121 ttpssgqetl slavgssseg lrqrtlpqaq tdqaqshqfp yvmqgnvdnq fpgqaappgf
      181 pvypafsplq mlwwqqmyah qyymqyqaav saqatsnvnp tqpttsqpln lahvpgeepp
      241 papnlvaqen rpmnenvqmn aqggpvlnee dfnrdwldwm ytfsraaill sivyfyssfs
      301 rfimvmgaml lvylhqagwf pfrqegghqq apnnnaevnn dgqnannlel eemerlmddg
      361 ledesgedgg edasaiqrpg lmasawsfit tfftslipeg ppqvan
//
LOCUS       XP_047277247             173 aa            linear   PRI 20-MAR-2023
DEFINITION  protein tyrosine phosphatase type IVA 3 isoform X1 [Homo sapiens].
ACCESSION   XP_047277247
VERSION     XP_047277247.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421291.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..173
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..173
                     /product="protein tyrosine phosphatase type IVA 3 isoform
                     X1"
                     /calculated_mol_wt=19404
     Region          5..158
                     /region_name="PTP-IVa3"
                     /note="protein tyrosine phosphatase type IVA 3; cd18535"
                     /db_xref="CDD:350511"
     Site            order(5,7,72..74,104..105,108..110,137..140,142,144)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:350511"
     CDS             1..173
                     /gene="PTP4A3"
                     /gene_synonym="PRL-3; PRL-R; PRL3"
                     /coded_by="XM_047421291.1:1268..1789"
                     /db_xref="GeneID:11156"
                     /db_xref="HGNC:HGNC:9636"
                     /db_xref="MIM:606449"
ORIGIN      
        1 marmnrpapv evsykhmrfl ithnptnatl stfiedlkky gattvvrvce vtydktplek
       61 dgitvvdwpf ddgapppgkv vedwlslvka kfceapgscv avhcvaglgr apvlvalali
      121 esgmkyedai qfirqkrrga inskqltyle kyrpkqrlrf kdphthktrc cvm
//
LOCUS       XP_011515371            1288 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM135B isoform X5 [Homo sapiens].
ACCESSION   XP_011515371
VERSION     XP_011515371.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011517069.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1288
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1288
                     /product="protein FAM135B isoform X5"
                     /calculated_mol_wt=142008
     Region          1018..1212
                     /region_name="DUF676"
                     /note="Putative serine esterase (DUF676); pfam05057"
                     /db_xref="CDD:309968"
     CDS             1..1288
                     /gene="FAM135B"
                     /gene_synonym="C8ORFK32"
                     /coded_by="XM_011517069.3:512..4378"
                     /db_xref="GeneID:51059"
                     /db_xref="HGNC:HGNC:28029"
ORIGIN      
        1 mfyafpqkkr gpgreelveg agtglrpclv rvapeifgah atfpssdisl elcfsvsysf
       61 trpgrgswlg kggpdtgqeq siislenlvf gagyckptss egsfyitsen cmqhahkwhr
      121 dlcllllhay rglrlhflvi mrdipelpht elealaveet lsqlcselqm lnnpekiaeq
      181 iskdlawlts hmmtlwtqfl dtvtlhsqvt tyltqehhtl rvrrfseaff ymehqklavl
      241 tfqenliqth sqlsldirns eyltsmpplp aecldidgdw ntlpvifedr yvdcpatghn
      301 lsvypnfdvp vtsptimnlk dkedncmvns nlsfredlvl stikpsqmds deevircpep
      361 genvatqnhm dmcsesqvyi sigefqnkag vpedecwtgq tsdagtypva dvdtsrrspg
      421 pedgqapvlt yidvkssnkn psraeplvaf naqhesrssr dkygldrtgl skvvvggshq
      481 naissdkttl helstlgkgi dqegkmvlls lkltpsepcd plsstlrepl dirsslkdsh
      541 teeqeelsvl sgvikrsssi isdsgiesep ssvawsears ralelpsdre vlhpfvrrha
      601 lhrnsleggh tesntslpsg iqasltsiss lpfeederev altkltksvs aphisspeea
      661 aedadtkqqd ggfaepsdmh sksqgspgsc sqlcgdsgtd agadhplvei vldadnqqgp
      721 gyidipkgkg kqfdaqghcl pdgrtentpg vetkglnlki prvialenpr trslhralee
      781 tpkgmpkdln vgqqalsnsg iseveglsqh qvpelsctsa adainrnstg qqsqsgspci
      841 mddtafnrgv nafpeakhka gtvcptvths vhsqvlknqe lkagtsimgs hltsaetftl
      901 dslkavevvn lsvsctatcl pfssvpketp aragfsskqt lfpithqplg sfgvvsthss
      961 tldeevserm fsvfssfyqa kekfkkelki egflysdltv lasdipyfpp eeeeenledg
     1021 ihlvvcvhgl dgnsadlrlv ktfielglpg gkldflmsek nqmdtfadfd tmtdrlldei
     1081 iqhiqlynls isrisfighs lgniiirsvl trprfryyln klhtflslsg phlgtlynns
     1141 tlvstglwlm qklkksgsll qltfrdnadl rkcflyqlsq ktglqyfknv vlvaspqdry
     1201 vpfhsariem cktalkdrht gpvyaeminn llgplveakd ctlirhnvfh alpntantli
     1261 graahiavld selflekffl vaglnyfk
//
LOCUS       XP_047278053             584 aa            linear   PRI 20-MAR-2023
DEFINITION  maestro heat-like repeat-containing protein family member 6 isoform
            X17 [Homo sapiens].
ACCESSION   XP_047278053
VERSION     XP_047278053.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422097.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..584
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..584
                     /product="maestro heat-like repeat-containing protein
                     family member 6 isoform X17"
                     /calculated_mol_wt=62238
     CDS             1..584
                     /gene="MROH6"
                     /gene_synonym="C8orf73"
                     /coded_by="XM_047422097.1:59..1813"
                     /db_xref="GeneID:642475"
                     /db_xref="HGNC:HGNC:27814"
ORIGIN      
        1 maggvwgrsr areapvgalt ltaltegira rqgqpqgpps agpqpkswev kpeaepqtqa
       61 ltapseaepg rgatvpeags epcslnsale papegphqvp qssweegvla dlalytaacl
      121 eeagfagtqa tvltlssale argerledqv halvrgllaq vpslaegrpw raalrvlsal
      181 alehardvvc allprslpad rvaaelwrsl srnqrvngqv lvqllwalkg asgpepqala
      241 atralgemla vsgcvgatrg fyphlllalv tqlhklarsp cspdmpkiwv lshrgpphsh
      301 ascavealka lltgdggrmv vtcmeqaggw rrlvgahthl egvlllasam vahadhhlrg
      361 lfadllprlr saddpqrlta mafftgllqs rptarllree vilerlltwq gdpeptvrwl
      421 gllglghlal nrrkvrhvst llpallgalg egdarlvgaa lgalrrlllr prapvrllsa
      481 elgprlppll ddtrdsiras avgllgtlvr rgrgglrlgl rgplrklvlq slvplllrlh
      541 dpsrdaaevs sprhhptpmp snthhshras pptitelrvd pgpl
//
LOCUS       XP_006716741             568 aa            linear   PRI 20-MAR-2023
DEFINITION  jerky protein homolog isoform X1 [Homo sapiens].
ACCESSION   XP_006716741
VERSION     XP_006716741.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006716678.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..568
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..568
                     /product="jerky protein homolog isoform X1"
                     /calculated_mol_wt=62659
     Region          14..66
                     /region_name="CENP-B_N"
                     /note="CENP-B N-terminal DNA-binding domain; pfam04218"
                     /db_xref="CDD:398066"
     Region          83..147
                     /region_name="CENPB"
                     /note="Putative DNA-binding domain in centromere protein
                     B, mouse jerky and transposases; smart00674"
                     /db_xref="CDD:197828"
     Region          213..382
                     /region_name="DDE_1"
                     /note="DDE superfamily endonuclease; pfam03184"
                     /db_xref="CDD:367380"
     CDS             1..568
                     /gene="JRK"
                     /gene_synonym="jerky; JH8"
                     /coded_by="XM_006716678.5:1628..3334"
                     /db_xref="GeneID:8629"
                     /db_xref="HGNC:HGNC:6199"
                     /db_xref="MIM:603210"
ORIGIN      
        1 maskpaagks rgekrkrvvl tlkekidict rlekgesrka lmqeynvgms tlydirahka
       61 qllrffassd snkaleqrrt lhtpklehld rvlyewflgk rsegvpvsgp mliekakdfy
      121 eqmqltepcv fsggwlwrfk arhgikklda ssekqsadhq aaeqfcaffr slaaehglsa
      181 eqvynadetg lfwrclpnpt peggavpgpk qgkdrltvlm canatgshrl kplaigkcsg
      241 prafkgiqhl pvaykaqgna wvdkeifsdw fhhifvpsvr ehfrtiglpe dskavlllds
      301 srahpqeael vssnvftifl pasvaslvqp meqgirrdfm rnfinppvpl qgpharynmn
      361 daifsvacaw navpshvfrr awrklwpsva faegssseee leaecfpvkp hnksfahile
      421 lvkegsscpg qlrqrqaasw gvagreaegg rppaatspae vvwssektpk adqdgrgdpg
      481 egeevaweqa avafdavlrf aerqpcfsaq evgqlralra vfrsqqqvrr rrgalgavvk
      541 vealqegpgg cgataqsplp csstagdn
//
LOCUS       XP_047279316             711 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA excision repair protein ERCC-6-like 2 isoform X7 [Homo
            sapiens].
ACCESSION   XP_047279316
VERSION     XP_047279316.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423360.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..711
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..711
                     /product="DNA excision repair protein ERCC-6-like 2
                     isoform X7"
                     /calculated_mol_wt=80864
     Region          29..84
                     /region_name="Tudor_ERCC6L2"
                     /note="Tudor domain found in DNA excision repair protein
                     ERCC-6-like 2 (ERCC6L2) and similar proteins; cd20400"
                     /db_xref="CDD:410471"
     Site            order(39,44,46,67,71)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410471"
     Region          <70..662
                     /region_name="HepA"
                     /note="Superfamily II DNA or RNA helicase, SNF2 family
                     [Transcription, Replication, recombination and repair];
                     COG0553"
                     /db_xref="CDD:223627"
     Region          134..382
                     /region_name="DEXHc_ERCC6L2"
                     /note="DEXH-box helicase domain of ERCC6L2; cd18005"
                     /db_xref="CDD:350763"
     Site            order(161..167,226,283..284)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350763"
     CDS             1..711
                     /gene="ERCC6L2"
                     /gene_synonym="BMFS2; C9orf102; HEBO; RAD26L; SR278"
                     /coded_by="XM_047423360.1:316..2451"
                     /db_xref="GeneID:375748"
                     /db_xref="HGNC:HGNC:26922"
                     /db_xref="MIM:615667"
ORIGIN      
        1 mqpgsapppg rmdpsapqpr aetsgkdiwh pgerclapsp dngklceasi ksitvdengk
       61 sfavvlyadf qerkiplkql qevkfvkdcp rnlifddedl ekpyfpnrkf psssvafkls
      121 dngdsipyti nrylrdyqre gtrflyghyi hgggcilgdd mglgktvqvi sflaavlhkk
      181 gtrediennm pefllrsmkk eplsstakkm flivaplsvl ynwkdeldtw gyfrvtvlhg
      241 nrkdnelirv kqrkceialt tyetlrlcld elnslewsav ivdeahrikn pkarvtevmk
      301 alkcnvrigl tgtilqnnmk elwcvmdwav pgllgsgtyf kkqfsdpveh gqrhtatkre
      361 latgrkamqr lakkmsgwfl rrtktlikdq lpkkedrmvy csltdfqkav yqtvletedv
      421 tlilqssepc tcrsgqkrrn ccyktnshge tvktlylsyl tvlqkvanhv allqaastsk
      481 qqetlikric dqvfsrfpdf vqkskdaafe tlsdpkysgk mkvlqqllnh crknrdkvll
      541 fsfstklldv lqqycmasgl dyrrldgstk seerlkivke fnstqdvnic lvstmagglg
      601 lnfvganvvv lfdptwnpan dlqaidrayr igqcrdvkvl rlislgtvee imylrqiykq
      661 qlhcvvvgse nakryfeavq gskehqgelf gihnlfkfrs qgscltkdil e
//
LOCUS       XP_016870901             292 aa            linear   PRI 20-MAR-2023
DEFINITION  proline rich transmembrane protein 1B isoform X2 [Homo sapiens].
ACCESSION   XP_016870901
VERSION     XP_016870901.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017015412.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..292
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..292
                     /product="proline rich transmembrane protein 1B isoform
                     X2"
                     /calculated_mol_wt=30069
     Region          <37..194
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          215..281
                     /region_name="CD225"
                     /note="Interferon-induced transmembrane protein;
                     pfam04505"
                     /db_xref="CDD:427986"
     CDS             1..292
                     /gene="PRRT1B"
                     /gene_synonym="DSPD2; IFITMD8"
                     /coded_by="XM_017015412.3:90..968"
                     /db_xref="GeneID:642515"
                     /db_xref="HGNC:HGNC:53642"
ORIGIN      
        1 mrpscrglga wfvgtagpat shlarrplah drchfflgsd tkgggspatp edprspakpa
       61 apedpqmpaq palpqlprrp rtldedgaps edgaaggsep apedapaqaa geagpvskaa
      121 aggaphigfv gepppyappd pkaapllypp fpqvpvvlqp apsalfpppa qlypaaptpp
      181 alfsppagaa fpfpvyngpm agvpgpatve hrplpkdymm esvlvtlfcc lltgliaivy
      241 shearaalgr gdlaqaeeas rkarslvlfs llfgvfvsts wviyvvvaly lp
//
LOCUS       XP_016885272            1374 aa            linear   PRI 20-MAR-2023
DEFINITION  lysine-specific demethylase 6A isoform X9 [Homo sapiens].
ACCESSION   XP_016885272
VERSION     XP_016885272.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029783.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1374
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1374
                     /product="lysine-specific demethylase 6A isoform X9"
                     /calculated_mol_wt=150715
     Region          93..121
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(94,97..98,101..102,104,131,134..135,138..139,
                     141..142,165,171..172,175..176,179)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          106..401
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          129..159
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          164..194
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          205..233
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          243..278
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(285,288..289,292..293,295,319,322..323,326..327,
                     329..330,353,356..357,360..361,364)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          285..312
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          317..347
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          352..378
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1072..1136
                     /region_name="JmjC"
                     /note="A domain family that is part of the cupin
                     metalloenzyme superfamily; smart00558"
                     /db_xref="CDD:214721"
     Region          1106..1214
                     /region_name="JmjC"
                     /note="JmjC domain, hydroxylase; pfam02373"
                     /db_xref="CDD:396791"
     CDS             1..1374
                     /gene="KDM6A"
                     /gene_synonym="bA386N14.2; KABUK2; UTX"
                     /coded_by="XM_017029783.3:365..4489"
                     /db_xref="GeneID:7403"
                     /db_xref="HGNC:HGNC:12637"
                     /db_xref="MIM:300128"
ORIGIN      
        1 mkscgvslat aaaaaaafgd eekkmaagka sgeseeasps ltaeerealg gldsrlfgfv
       61 rfhedgartk allgkavrcy eslilkaegk vesdffcqlg hfnllledyp kalsayqryy
      121 slqsdywkna aflyglglvy fhynafqwai kafqevlyvd psfcrakeih lrlglmfkvn
      181 tdyesslkhf qlalvdcnpc tlsnaeiqfh iahlyetqrk yhsakeayeq llqtenlsaq
      241 vkatvlqqlg wmhhtvdllg dkatkesyai qylqkslead pnsgqswyfl grcyssigkv
      301 qdafisyrqs idkseasadt wcsigvlyqq qnqpmdalqa yicavqldhg haaawmdlgt
      361 lyescnqpqd aikcylnatr skscsntsal aarikylqac kphhpntepv lglsqtpisq
      421 qslplhmips sqvddlsspa krkrtssptk ntsdnwsggh avshppvqqq ahswcltpqk
      481 lqmrptgvaq vrstgipngp tadsslptns vsgqqpqlal trvpsvsqpg vrpacpgqpl
      541 angpfsaghv pcstsrtlgs tdtilignnh itgsgsngnv pylqrnaltl phnrtnltss
      601 aeepwknqls nstqglhkgq sshsagpnge rplsstgpsq hlqaagsgiq nqnghptlps
      661 nsvtqgaaln hlsshtatsg gqqgitltke skpsgniltv petsrhtget pnstasvegl
      721 pnhvhqmtad avcspshgds kspgllssdn pqlsallmgk annnvgtgtc dkvnnihpav
      781 htktdnsvas spssaistat pspksteqtt tnsvtslnsp hsglhtinge gmeesqspmk
      841 tdlllvnhkp spqiipsmsv siypssaevl kacrnlgkng lsnssilldk cppprppssp
      901 ypplpkdkln pptpsiylen krdaffpplh qfctnpnnpv tvirglagal kldlglfstk
      961 tlveannehm vevrtqllqp adenwdptgt kkiwhcesnr shttiakyaq yqassfqesl
     1021 reenekrshh kdhsdsests sdnsgrrrkg pfktikfgtn idlsddkkwk lqlheltklp
     1081 afvrvvsagn llshvghtil gmntvqlymk vpgsrtpghq ennnfcsvni nigpgdcewf
     1141 vvpegywgvl ndfceknnln flmgswwpnl edlyeanvpv yrfiqrpgdl vwinagtvhw
     1201 vqaigwcnni awnvgpltac qyklaverye wnklqsvksi vpmvhlswnm arnikvsdpk
     1261 lfemikycll rtlkqcqtlr ealiaagkei iwhgrtkeep ahycsiceve vfdllfvtne
     1321 snsrktyivh cqdcarktsg nlenfvvleq ykmedlmqvy dqftlapplp sass
//
LOCUS       XP_005262367            1358 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger MYM-type protein 3 isoform X2 [Homo sapiens].
ACCESSION   XP_005262367
VERSION     XP_005262367.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005262310.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1358
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1358
                     /product="zinc finger MYM-type protein 3 isoform X2"
                     /calculated_mol_wt=150953
     Region          2..>305
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          311..347
                     /region_name="TRASH"
                     /note="metallochaperone-like domain; smart00746"
                     /db_xref="CDD:214799"
     Region          348..389
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          404..440
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          446..488
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          493..532
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          541..578
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          586..623
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          628..664
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          674..710
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          715..751
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          1173..1341
                     /region_name="DUF3504"
                     /note="Domain of unknown function (DUF3504); pfam12012"
                     /db_xref="CDD:432262"
     CDS             1..1358
                     /gene="ZMYM3"
                     /gene_synonym="DXS6673E; MYM; XFIM; ZNF198L2; ZNF261"
                     /coded_by="XM_005262310.4:132..4208"
                     /db_xref="GeneID:9203"
                     /db_xref="HGNC:HGNC:13054"
                     /db_xref="MIM:300061"
ORIGIN      
        1 mdpsdfpspf dpltlpekpl agdlpvdmef gedllesqta ptrgwappgp spssgaldll
       61 dtpaglekdp gvldgatell glggllykap sppevdhgpe gtlawdagdq tlepgpggqt
      121 pevvppdpga ganscspegl leplapdspi tlqsphieee ettsiatarr gspgqeeelp
      181 qgqpqspnap pspsvgetlg dginssqtkp ggssppahps lpgdgltaka sekpperkrs
      241 ervrraeppk pevvdstesi pvsdedsdam vddpndedfv pfrprrsprm slrssvsqra
      301 grsavgtkmt cahcrtplqk gqtayqrkgl pqlfcssscl ttfskkpsgk ktctfckkei
      361 wntkdsvvaq tgsggsfhef ctsvclslye aqqqrpipqs gdpadatrcs icqktgevlh
      421 evsngsvvhr lcsdscfskf rankglktnc cdqcgayiyt ktgspgpell fhegqqkrfc
      481 nttclgaykk kntrvypcvw cktlcknfem lshvdrngkt slfcslcctt sykvkqaglt
      541 gpprpcsfcr rslsdpcyyn kvdrtvyqfc spscwtkfqr tspeggihls chychslfsg
      601 kpevldwqdq vfqfccrdcc edfkrlrgvv sqcehcrqek llheklrfsg veksfcsegc
      661 vllykqdftk klglccitct ycsqtcqrgv teqldgstwd fcsedcksky llwyckaarc
      721 hackrqgkll etihwrgqir hfcnqqcllr fysqqnqpnl dtqsgpesll nsqspeskpq
      781 tpsqtkvens ntipvktrsa ptaptppppp ppatprknka amckplmqnr gvsckvemks
      841 kgsqteewkp qvivlpipvp ifvpvpmhly cqkvpvpfsm pipvpvpmfl pttlestdki
      901 vetieelkvk ipsnpleadi lamaemiaea eeldkassdl cdlvsnqsae glledcdlfg
      961 parddvlama vkmanvldep gqdleadfpk npldinpsvd flfdcglvgp edvsteqdlp
     1021 rtmrkgqkrl vlsescsrds mssqpsctgl nysygvnawk cwvqskyang etskgdelrf
     1081 gpkpmriked ilacsaaeln yglaqfvrei trpngeryep dsiyylclgi qqyllennrm
     1141 vniftdlyyl tfvqelnksl stwqptllpn ntvfsrveee hlweckqlgv yspfvllntl
     1201 mffntkffgl qtaeehmqls ftnvvrqsrk cttprgttkv vsiryyapvr qrkgrdtgpg
     1261 krkredeapi leqrenrmnp lrcpvkfyef ylskcpeslr trndvfylqp ersciaespl
     1321 wysvipmdrs mlesmlnril avreiyeelg rpgeedld
//
LOCUS       XP_016885562            1063 aa            linear   PRI 20-MAR-2023
DEFINITION  histone demethylase UTY isoform X28 [Homo sapiens].
ACCESSION   XP_016885562
VERSION     XP_016885562.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017030073.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000024.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1063
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
     Protein         1..1063
                     /product="histone demethylase UTY isoform X28"
                     /calculated_mol_wt=116622
     Region          90..118
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(91,94..95,98..99,101,128,131..132,135..136,138..139,
                     162,168..169,172..173,176)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          103..375
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          126..156
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          161..191
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          202..230
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          240..275
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(282,285..286,289..290,292,316,319..320,323..324,
                     326..327,350,353..354,357..358,361)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          282..309
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          314..344
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          349..377
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..1063
                     /gene="UTY"
                     /gene_synonym="KDM6AL; KDM6C; UTY1"
                     /coded_by="XM_017030073.3:1006..4197"
                     /db_xref="GeneID:7404"
                     /db_xref="HGNC:HGNC:12638"
                     /db_xref="MIM:400009"
ORIGIN      
        1 mkscavsltt aavafgdeak kmaegkasre seeesvsltv eerealggmd srlfgfvrlh
       61 edgartktll gkavrcyesl ilkaegkves dffcqlghfn llledyskal sayqryyslq
      121 adywknaafl yglglvyfyy nafhwaikaf qdvlyvdpsf crakeihlrl glmfkvntdy
      181 ksslkhfqla lidcnpctls naeiqfhiah lyetqrkyhs akeayeqllq tenlpaqvka
      241 tvlqqlgwmh hnmdlvgdka tkesyaiqyl qksleadpns gqswyflgrc yssigkvqda
      301 fisyrqsidk seasadtwcs igvlyqqqnq pmdalqayic avqldhghaa awmdlgtlye
      361 scnqpqdaik cylnaarskr csntstlaar ikflqngsdn wnggqslshh pvqqvyslcl
      421 tpqklqhleq lranrdnlnp aqkhqleqle sqfvlmqqmr hkevaqvrtt gihngaitds
      481 slptnsvsnr qphgaltrvs svsqpgvrpa cvekllssga fsagcipcgt skilgstdti
      541 llgsnciags esngnvpylq qnthtlphnh tdlnssteep wrkqlsnsaq aylghltgfi
      601 qdncnkglhk sqssclsgpn eeqplfstgs aqyhqatstg ikkanehltl psnsvpqgda
      661 dshlschtat sggqqgimft keskpsknrs lvpetsrhtg dtsngcadvk glsnhvhqli
      721 adavsspnhg dspnlliadn pqlsalligk angnvgtgtc dkvnnihpav htktdhsvas
      781 spssaistat pspksteqrs insvtslnsp hsglhtvnge glgksqsstk vdlplashrs
      841 tsqilpsmsv sicpsstevl kacrnpgkng lsnscilldk cppprpptsp ypplpkdkln
      901 pptpsiylen krdaffpplh qfctnpknpv tvirglagal kldlglfstk tlveannehm
      961 vevrtqllqp adenwdptgt kkiwrcesnr shttiakyaq yqassfqesl reenekrtqh
     1021 kdhsdnests sensgrrrkg pfktikfgtn idlsdnknnl cls
//
LOCUS       XP_054185237            1268 aa            linear   PRI 20-MAR-2023
DEFINITION  synergin gamma isoform X31 [Homo sapiens].
ACCESSION   XP_054185237
VERSION     XP_054185237.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329262.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187614.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1268
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     Protein         1..1268
                     /product="synergin gamma isoform X31"
                     /calculated_mol_wt=135445
     CDS             1..1268
                     /gene="SYNRG"
                     /gene_synonym="AP1GBP1; SYNG"
                     /coded_by="XM_054329262.1:64..3870"
                     /db_xref="GeneID:11276"
                     /db_xref="HGNC:HGNC:557"
                     /db_xref="MIM:607291"
ORIGIN      
        1 malrpgagsg gggaagagag saggggfmfp vaggirppqg lmpmqqqgfp mvsvmqpnmq
       61 gimgmnyssq msqgpiamqa gipmgpmpaa gmpylgqapf lgmrppgpqy tpdmqkqfae
      121 eqqkrfeqqq klleeerkrr qfeeqkqklr llssvkpktg eksrddalea ikgnldgfsr
      181 dakmhptpas hpkkpgpsle ekflvscdis tsgqeqikln tsevghkalg pgsskkypsl
      241 masngvavdg cvsgtttaea entsdqnlsi eesgvgvfps qdpaqprmpp wiyneslvpd
      301 aykkilettm tptgidtakl ypilmssglp retlgqiwal anrttpgklt keelytvlam
      361 iavtqrgvpa mspdalnqfp aapiptlsgf smtlptpvsq ptvipsgpag smplslgqpv
      421 mginlvgpvg gaaaqassgf iptypanqvv kpeeddfqdf qdasksgsld dsfsdfqelp
      481 assktsnsqh gnsapsllmp lpgtkalpsm dkyavfkgia adkssentvp pgdpgdkysa
      541 freleqtaen kplgesfaef rsagtddgft dfktadsvsp lepptkdktf ppsfpsgtiq
      601 qkqqtqvknp lnladldmfs svncssekpl sfsavfstsk svstpqstgs aatmtalaat
      661 ktssladdfg efslfgeysg lapvgeqddf adfmafsnss isseqkpddk ydalkeeasp
      721 vpltsnvgst vkggqnstaa stkydvfrql slegsglgve dlkdntpsgk sdddfadfhs
      781 skfssinsdk slgekavafr htkedsasvk sldlpsiggs svgkedseda lsvqfdmkla
      841 dvggdlkhvm sdssldlptv sgqhppaaag sgspsatsil qkketsfgss enitmtslsk
      901 vttfvsedal pettfpalas fkdtipqtse qkeyenrdyk dftkqdlpta ersqeatcps
      961 passgasqet pnecsddfge fqsekpkisk fdflvatsqs kmksseemik selatfdlsv
     1021 qgshkrslsl gdkeisrssp spaleqpfrd rsntlnekpa lpvirdkykd ltgeveener
     1081 yayewqrclg salnvikkan dtlngissss vcteviqsaq gmeyllgvve vyrvtkrvel
     1141 gikatavcse klqqllkdid kvwnnligfm slatltpden sldfsscmlr pgiknaqela
     1201 cgvcllnvds rsrkeekpae ehpkkafnse tdsfklaygg hqyhascanf wincvepkpp
     1261 glvlpdll
//
LOCUS       XP_054188190             260 aa            linear   PRI 20-MAR-2023
DEFINITION  putative zinc finger protein 705G isoform X2 [Homo sapiens].
ACCESSION   XP_054188190
VERSION     XP_054188190.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332215.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_018654717.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..260
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1-22"
     Protein         1..260
                     /product="putative zinc finger protein 705G isoform X2"
                     /calculated_mol_wt=29291
     CDS             1..260
                     /gene="ZNF705G"
                     /coded_by="XM_054332215.1:313..1095"
                     /db_xref="GeneID:100131980"
                     /db_xref="HGNC:HGNC:37134"
ORIGIN      
        1 mhslkkvtfe dvaidftqee wammdtskrk lyrdvmleni shlvslryqi skayiilqle
       61 qgkelwregr vflqdqnpnr esalkkthmi smhpiirkda stsmtmeipl ptgcldellk
      121 aaecpaaghf qssgrpsrrd dggrvltyyv kllfgvghec mcpcattgil tttqmnplkc
      181 wqveqsprtg tetppvqgss hldlglllql pqasypgsdf qcsyshlwkp vetlkiskrs
      241 gifgdfshgy vsckresisf
//
LOCUS       XP_054189076             926 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleolar protein 8 isoform X6 [Homo sapiens].
ACCESSION   XP_054189076
VERSION     XP_054189076.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333101.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791788) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..926
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.31"
     Protein         1..926
                     /product="nucleolar protein 8 isoform X6"
                     /calculated_mol_wt=103238
     CDS             1..926
                     /gene="NOL8"
                     /gene_synonym="bA62C3.3; bA62C3.4; C9orf34; NOP132"
                     /coded_by="XM_054333101.1:94..2874"
                     /db_xref="GeneID:55035"
                     /db_xref="HGNC:HGNC:23387"
                     /db_xref="MIM:611534"
ORIGIN      
        1 mkvnretkrl yvgglsqdis eadlqnqfsr fgevsdveii trkddqgnpq kvfayinisv
       61 aeadlkkcms vlnktkwkgg tlqiqlakes flhrlaqere aakakkeest tgnanllekt
      121 ggvdfhmkav pgtevpghkn wvvskfgrvl pvlhlknqhk rkiikydpsk ychnlkkige
      181 dfsntipiss ltweleggnd pmskkrrgef sdfhgppkki ikvqkdesst gslamstrpr
      241 rvierppltq qqaaqkrtcd sitpsksspv pvsdtqklkn lpfktsglet akkrnsisdd
      301 dtdsedelrm miakeenlqr ttqpsinese sdpfevvrdd fksgvhklhs liglgiknrv
      361 schdsdddim rndreydsgd tdeiiamkkn vakvknstef sqmekstkkt sfknrencel
      421 sdhciklqkr ksnvesalsh glkslnrksp shssssedad saseladseg geeynammkn
      481 clrvnltlad leqlagsdlk vpnedtksdg petttqckfd rgskspktpt glrrgrqcir
      541 paeivaslle geentcgkqk pkennlkpkf qafkgvgcly ekesmkkslk dsvasnnkdq
      601 nsmkhedpsi ismedgspyv ngslgevtpc qhakkangpn yiqpqkrqtt fesqdrkavs
      661 psssekrskn pisrplegkk slslsakthn igfdkdschs ttkteasqee rsdssgltsl
      721 kkspkvsskd treiktdfsl sisnssdvsa kdkhaednek rlaalearqk akevqkklvh
      781 nalanldghp edkpthiifg sdseceteet stqeqshpge ewvkesmgkt sgklfdssdd
      841 desdseddsn rfkikpqfeg ragqklmdlq shfgtddrfr mdsrfletds eeeqeaaqpa
      901 sitlspfqhc illdfltqns mlktqe
//
LOCUS       XP_054192305            1407 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 18 isoform X13 [Homo
            sapiens].
ACCESSION   XP_054192305
VERSION     XP_054192305.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336330.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1407
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1407
                     /product="coiled-coil domain-containing protein 18 isoform
                     X13"
                     /calculated_mol_wt=163000
     CDS             1..1407
                     /gene="CCDC18"
                     /gene_synonym="NY-SAR-41"
                     /coded_by="XM_054336330.1:170..4393"
                     /db_xref="GeneID:343099"
                     /db_xref="HGNC:HGNC:30370"
ORIGIN      
        1 messssdyyn kdneeeslla nvaslrhelk itewslqslg eelssvspse nsdyapnpsr
       61 seklildvqp shpgllnysp yenvckisgs stdfqkkprd kmfsssapvd qeikslrekl
      121 nklrqqnacl vtqnhslmtk fesihfeltq srakvsmles aqqqaasvpi leeqiinlea
      181 evsaqdkvlr eaenkleqsq kmviekeqsl qeskeecikl kvdlleqtkq gkraerqrne
      241 alynaeelsk afqqykkkva eklekvqaee eilernltnc ekenkrlqer cglykselei
      301 lkeklrqlke ennngkeklr imavktsevm aqltesrqsi lkleselenk deilrdkfsl
      361 mnenrelkvr vaaqnerldl cqqeiessrv elrslekiis qlplkrelfg fksylskyqm
      421 ssfsnkedrc igcceanklv isdlriklai keaeiqklha nltanqlsqs litcndsqes
      481 sklssletep vklgghqvae svkdqnqhtm nkqyekerqr lvtgieelrt kliqieaens
      541 dlkvnmahrt sqfqliqeel lekasnsskl esemtkkcsq lltlekqlee kivayssiaa
      601 knaeleqelm eknekirsle tninteheki clafekakki hleqhkemek qierleaqle
      661 kkdqqfkeqe ktmsmlqqdi ickqhhlesl drllteskge mkkenmkkde alkalqnqvs
      721 eetikvrqld saleickeel vlhlnqlegn kekfekqlkk kseevyclqk elkiknhslq
      781 etseqnvilq htlqqqqqml qqetirngel edtqtklekq vskleqelqk qressaeklr
      841 kmeekcesaa headlkrqkv ieltgtarqv kiemdqykee lskmekeimh lkrdgenkam
      901 hlsqldmild qtktelekkt navkeleklq hsteteltea lqkrevlete lqnahgelks
      961 tlrqlqelrd vlqkaqlsle ekyttikdlt aelreckmei edkkqellem dqalkernwe
     1021 lkqraaqvth ldmtirehrg emeqkiikle gtlekselel kecnkqvmke qeqyiatqyk
     1081 eaidlgqelr ltreqvqnsh telaearhqq vqaqreierl sseledmkql skekdahgnh
     1141 laeelgaskv reahlearmq aeikklsaev eslkeayhme mishqenhak wkisadsqks
     1201 svqqlneqle kakleleeaq dtvsnlhqqv qdrnevieaa nealltkese ltrlqakisg
     1261 hekaedikfl papftsptei mpdvqdpkfa kcfhtsfskc tklrrsisas dltfkihgde
     1321 dlseellqdl kkmqleqpst leeshknlty tqpdsfkplt ynleadssen ndfntlsgml
     1381 ryinkevrll kkssmqtgag lnqgenv
//
LOCUS       XP_054220721             149 aa            linear   PRI 20-MAR-2023
DEFINITION  glutathione S-transferase omega-2 isoform X3 [Homo sapiens].
ACCESSION   XP_054220721
VERSION     XP_054220721.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364746.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..149
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..149
                     /product="glutathione S-transferase omega-2 isoform X3"
                     /calculated_mol_wt=16881
     CDS             1..149
                     /gene="GSTO2"
                     /gene_synonym="bA127L20.1; GSTO 2-2"
                     /coded_by="XM_054364746.1:54..503"
                     /db_xref="GeneID:119391"
                     /db_xref="HGNC:HGNC:23064"
                     /db_xref="MIM:612314"
ORIGIN      
        1 msgdatrtlg kgsqppgpvp egliriysmr fcpyshrtrl vlkakdirhe vvninlrnkp
       61 ewyytkhpfg hipvletsqc qliyesviac eylddaypgr klfpydpyer arqkmllelf
      121 cklcephssp aaldishevg phslcsshg
//
LOCUS       XP_054221436            1081 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase HERC4 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054221436
VERSION     XP_054221436.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365461.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1081
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1081
                     /product="probable E3 ubiquitin-protein ligase HERC4
                     isoform X1"
                     /calculated_mol_wt=121063
     CDS             1..1081
                     /gene="HERC4"
                     /coded_by="XM_054365461.1:589..3834"
                     /db_xref="GeneID:26091"
                     /db_xref="HGNC:HGNC:24521"
                     /db_xref="MIM:609248"
ORIGIN      
        1 mlcwgnasfg qlglggidee ivleprksdf finkrvrdvg cglrhtvfvl ddgtvytcgc
       61 ndlgqlghek srkkpeqvva ldaqnivavs cgeahtlaln dkgqvyawgl dsdgqlglvg
      121 seecirvpsc fpkimcvdsl vricsglsyg rirnikslsd iqivqvacgy yhslalskas
      181 evfcwgqnky gqlglgtdck kqtspqllks llgipfmqva aggahsfvlt lsgaifgwgr
      241 nkfgqlglnd endryvpnll kslrsqkivy iccgedhtaa ltkeggvftf gaggygqlgh
      301 nstsheinpr kvfelmgsiv teiacgrqht safvpssgri ysfglggngq lgtgstsnrk
      361 spftvkgnwy pyngqclpdi dseeyfcvkr ifsggdqsfs hysspqncgp pddfrcpnpt
      421 kqiwtvneal iqkwlsypsg rfpveianei dgtfsssgcl ngsflavsnd dhyrtgtrfs
      481 gvdmnaarll fhkliqpdhp qisqqvaasl eknlipklts slpdvealrf yltlpecplm
      541 sdsnnfttia ipfgtalvnl ekaplkvlen wwsvlepplf lkivelfkev vvhllklyki
      601 gippserrif nsflhtalkv leilhrvnek mgqiiqydkf yihevqelid irndyinwvq
      661 qqaygmdvnh glteladipv tictypfvfd aqakttllqt davlqmqmai dqahrqnvss
      721 lflpviesvn pclilvvrre nivgdamevl rktknidykk plkvifvged avdaggvrke
      781 ffllimrell dpkygmfryy edsrliwfsd ktfedsdlfh ligvicglai ynctivdlhf
      841 plalykkllk kkpslddlke lmpdvgrsmq qlldypeddi eetfclnfti tvenfgatev
      901 kelvlngadt avnkqnrqef vdayvdyifn ksvaslfdaf hagfhkvcgg kvlllfqpne
      961 lqamvigntn ydwkeleknt eykgeywaeh ptikifwevf helplekkkq fllfltgsdr
     1021 ipilgmkslk lviqstggge eylpvshtcf nlldlpkyte ketlrskliq aidhnegfsl
     1081 i
//
LOCUS       XP_054221848            1157 aa            linear   PRI 20-MAR-2023
DEFINITION  WASH complex subunit 2A isoform X22 [Homo sapiens].
ACCESSION   XP_054221848
VERSION     XP_054221848.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365873.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1157
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1157
                     /product="WASH complex subunit 2A isoform X22"
                     /calculated_mol_wt=127254
     CDS             1..1157
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /coded_by="XM_054365873.1:53..3526"
                     /db_xref="GeneID:387680"
                     /db_xref="HGNC:HGNC:23416"
ORIGIN      
        1 mmnrttpdqe lapasepvwe rpwsmeeirr ssqswslaad agllqflqef sqqtisrthe
       61 ikkqvdglir etkatdcrlh nvfndflmls ntqfienrvy deeveepvlk aeaekteqek
      121 treqkevdli pkvqeavnyg lqvldsafeq ldikagnsds eeddangrve lilepkdlyi
      181 drplpyligs klfmeqedvg lgelsseegs vgsdrgsivd teeekeeees dedfahhsdn
      241 eqnrhttqms deeedddgcd lfadsekeee diedieentr pkrsrptsfa delaarikgd
      301 avgrvdeept tlpsgeakpr ktlkekkerr tpsddeednl fappkltded fspfgsgggl
      361 fsggkglfdd edeesdlfte apqdrqagas vkeesssskp gkkipagavs vflgdtdvfg
      421 aasvpsmkep qkpeqptprk spygppptgl fddddgdddd dffsaphskp sktgkvqsta
      481 difgdeegdl fkekavaspe atvsqtdenk araekkvtls ysknlkpsse tktqkglfsd
      541 eedsedlfss qsasklkgas llpgklptlv slfddedeed nlfggtaakk qtlclqaqre
      601 ekakaselsk kkasallfss deedqwnipa sqthlasdsr skgeprdsgt lqsqeakavk
      661 ktslfeedee ddlfaiakds qkktqrvsll feddvdsggs lfgspptsvp patkeglltr
      721 saqetvkhsd lfsssspwdk gtkprtktvl slfdeeedkm edqniiqapq kevgkgrdpd
      781 ahpkstgvfq deellfshkl qkdndpdvdl fagtkktkll epsvgslfgd dedddlfssa
      841 ksqplsrvkm rgkrrpqtra arrlaaqess etedmsvprg piaqwadgai spnghrpqlr
      901 aasgedstee alaaaaapwe ggpvpgvdrs pfakslghsr geadlfdsgd ifstgtgsqs
      961 vertkpkaki aenpanppvg gkakspmfpa lgeassdddl fqsakpkpak ktnpfplled
     1021 eddlftdqkv kknetksnsq qdvilttqdi feddifatea ikpsqktrek ektlesnlfd
     1081 dnidifadlt vkpkekskkk veaksifddd mddifssgiq akttkpksrs aqaapeprfe
     1141 hkvsnifddp lnafggq
//
LOCUS       XP_054224600             186 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine zipper protein 2 isoform X5 [Homo sapiens].
ACCESSION   XP_054224600
VERSION     XP_054224600.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368625.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..186
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..186
                     /product="leucine zipper protein 2 isoform X5"
                     /calculated_mol_wt=21498
     CDS             1..186
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /coded_by="XM_054368625.1:192..752"
                     /db_xref="GeneID:338645"
                     /db_xref="HGNC:HGNC:23206"
                     /db_xref="MIM:608178"
ORIGIN      
        1 mkfspahyll pllpalvlst rqdyeelekq lkevfkerst ilrqltktsr eldgikvnlq
       61 slkndeqsak tdvqkllelg qkqreemksl qealqnqlke tsekaekhqa tinflkteve
      121 rkskmirdlq neitfwslhr sykertekqg nklgyaatlc tehltsisqp sisntkitkg
      181 llrenl
//
LOCUS       XP_054227782             615 aa            linear   PRI 20-MAR-2023
DEFINITION  probable C-mannosyltransferase DPY19L2 isoform X6 [Homo sapiens].
ACCESSION   XP_054227782
VERSION     XP_054227782.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371807.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..615
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..615
                     /product="probable C-mannosyltransferase DPY19L2 isoform
                     X6"
                     /calculated_mol_wt=71049
     CDS             1..615
                     /gene="DPY19L2"
                     /gene_synonym="SPATA34; SPGF9"
                     /coded_by="XM_054371807.1:630..2477"
                     /db_xref="GeneID:283417"
                     /db_xref="HGNC:HGNC:19414"
                     /db_xref="MIM:613893"
ORIGIN      
        1 mtfrtemgly ysyfktiiea psfleglwmi mndrlteypl iinaikrfhl ypeviiaswy
       61 ctfmgimnlf gletktcwnv trieplnevq sceglgdpac fyvgvifiln glmmglffmy
      121 gaylsgtqlg glitvlcfff nhgeatrvmw tpplresfsy pflvlqmcil tlilrtssnd
      181 rrpfialcls nvafmlpwqf aqfilftqia slfpmyvvgy iepskfqkii ymnmisvtls
      241 filmfgnsmy lssyysssll mtwaiilkrn eiqklgvskl nfwliqgsaw wcgtiilkfl
      301 tskilgvsdh irlsdliaar ilrytdfdtl iytcapefdf mekatplryt ktlllpvvmv
      361 itcfifkktv rdisyvlatn iylrkqlleh selafhtlql lvftalaili mrlkmfltph
      421 mcvmaslics rqlfgwlfrr vrfekvifgi ltvmsiqgya nlrnqwsiig efnnlpqeel
      481 lqwikystts davfagampt masiklstlh pivnhphyed adlrartkiv ystysrksak
      541 evrdkllelh vnyyvleeaw cvvrtkpgcs mleiwdvedp snaanpplcs vlledarpyf
      601 ttvfqnsvyr vlkvn
//
LOCUS       XP_054229322             456 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-coupled neutral amino acid symporter 1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054229322
VERSION     XP_054229322.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373347.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..456
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..456
                     /product="sodium-coupled neutral amino acid symporter 1
                     isoform X4"
                     /calculated_mol_wt=50752
     CDS             1..456
                     /gene="SLC38A1"
                     /gene_synonym="ATA1; NAT2; SAT1; SNAT1"
                     /coded_by="XM_054373347.1:928..2298"
                     /db_xref="GeneID:81539"
                     /db_xref="HGNC:HGNC:13447"
                     /db_xref="MIM:608490"
ORIGIN      
        1 mmhfksglel telqnmtvpe ddnisndsnd ftevengqin skfisdresr rsltnshlek
       61 kkcdeyipgt tslgmsvfnl snaimgsgil glafalantg illflvllts vtllsiysin
      121 lllicsketg cmvyeklgeq vfgttgkfvi fgatslqntg amlsylfivk nelpsaikfl
      181 mgkeetfsaw yvdgrvlvvi vtfgiilplc llknlgylgy tsgfslscmv fflivviykk
      241 fqipcivpel nstisanstn adtctpkyvt fnsktvyalp tiafafvchp svlpiyselk
      301 drsqkkmqmv snisffamfv myfltaifgy ltfydnvqsd llhkyqskdd ililtvrlav
      361 ivaviltvpv lfftvrsslf elakktkfnl crhtvvtcil lvvinllvif ipsmkdifgv
      421 vgvtsanmli filpsslylk itdqdgdkgt qriwvw
//
LOCUS       XP_054231181             497 aa            linear   PRI 20-MAR-2023
DEFINITION  peptide chain release factor 1, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_054231181
VERSION     XP_054231181.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375206.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..497
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..497
                     /product="peptide chain release factor 1, mitochondrial
                     isoform X1"
                     /calculated_mol_wt=57416
     CDS             1..497
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /coded_by="XM_054375206.1:904..2397"
                     /db_xref="GeneID:9617"
                     /db_xref="HGNC:HGNC:7469"
                     /db_xref="MIM:604601"
ORIGIN      
        1 mgngevvlfs accfvahagc sgaisvhcnl rlpgssdypa sasraarttd aemnrhlcvw
       61 lfrhpslngy lqchiqlhsh qfrqihldtr lqvfrqnrnc ilhllsknws rrychqdtkm
      121 lwkhkalqky menlskeyqt leqclqhipv neenrrslnr rhaelaplaa iyqeiqeteq
      181 aieelesmck slnkqdekql qelaleerqt idqkinmlyn elfqslvpke kydkndvile
      241 vtagrttggd icqqftreif dmyqnyscyk hwqfellnyt padygglhha aarisgdgvy
      301 khlkyeggih rvqripevgl ssrmqrihtg tmsvivlpqp devdvkldpk dlridtfrak
      361 gaggqhvnkt dsavrlvhip tglvvecqqe rsqiknkeia frvlrarlyq qiiekdkrqq
      421 qsarklqvgt raqserirty nftqdrvsdh riayevrdik eflcggkgld qliqrllqsa
      481 deeaiaelld ehlksak
//
LOCUS       XP_054231449            1124 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 128 kDa isoform X1 [Homo sapiens].
ACCESSION   XP_054231449
VERSION     XP_054231449.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375474.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1124
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1124
                     /product="centrosomal protein of 128 kDa isoform X1"
                     /calculated_mol_wt=131344
     CDS             1..1124
                     /gene="CEP128"
                     /gene_synonym="C14orf145; C14orf61; LEDP/132"
                     /coded_by="XM_054375474.1:7817..11191"
                     /db_xref="GeneID:145508"
                     /db_xref="HGNC:HGNC:20359"
ORIGIN      
        1 maesssesdh frcrdrlspw aarsthrgtr slptvevtek vntitstlqd tsrnlrqvdq
       61 mlgryreysn gqagaiehlk esleqsidql rsqrllrnsg grsisvtsls asdldggtgs
      121 elhhfpptsp lkdygdpqgi krmrsrtgvr fvqetddmtq lhgfhqslrd lsseqirlgd
      181 dfnrelsrrs rsdaetkral eelteklnea qkqevvsdrv errlqelere mrterelver
      241 rqdqlglmsl qlqealkkqe akadehegai knklrqtete knqleqelel srrllnqseg
      301 sretllhqve elrtqltkae gdrkglqhqv sqiskqqsny qdeqgedwrf rrgverekqd
      361 lekqmsdlrv qlnfsamase leevkrcmer kdkekahlas qvenltrele ngekqqlqml
      421 drlkeiqnhf dtceaerkha dlqiseltrh aedatkqaer ylselqqsea lkeeaekrre
      481 dlklkaqesi rqwklkhkkl eralekqset vdeltgknnq ilkekdelkt qlyaalqqie
      541 nlrkelndvl tkralqeeel hskeeklrdi kshqadlele vknsldtihr leselkkqsk
      601 iqsqmkveka hleeeiaelk ksqaqdkakl lemqesikdl sairadlank laeeerakka
      661 vlkdlsdlta qaksrdeeta tiitqlkler dvhqrelkdl tsslqsvktk heqniqelmk
      721 hfkkekseae nrirtlkaes leeknmakih rgqleklksq cdrlteeltq nenenkklkl
      781 kyqclkdqle erekhisiee ehlrrmeear lqlkdqllcl eteqesilgv igkeidaack
      841 tfskdsvekl kvfssgpdih ydphrwlaes ktklqwlcee lkerenrekn lrhqlmlcrq
      901 qlrnltenke selqclfqqi erqeqlldei hrekrdllee tqrkdeemgs lqpkllfklp
      961 pwedasqtav rnqseaqfee kadrvialet stqvaldhle svpeklslle dfkdfrdscs
     1021 ssertdgrys kyrvrrnslq hhqddtkyrt ksfkgdrtfl egshtrgldh ssswqdhsrf
     1081 lssprfsyvn sftkrtvapd sasnkedatm ngtssqpkke eygs
//
LOCUS       XP_054231814             539 aa            linear   PRI 20-MAR-2023
DEFINITION  DDB1- and CUL4-associated factor 4 isoform X10 [Homo sapiens].
ACCESSION   XP_054231814
VERSION     XP_054231814.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375839.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..539
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..539
                     /product="DDB1- and CUL4-associated factor 4 isoform X10"
                     /calculated_mol_wt=61094
     CDS             1..539
                     /gene="DCAF4"
                     /gene_synonym="WDR21; WDR21A"
                     /coded_by="XM_054375839.1:28..1647"
                     /db_xref="GeneID:26094"
                     /db_xref="HGNC:HGNC:20229"
                     /db_xref="MIM:616372"
ORIGIN      
        1 maastllsss rfllarmcvp tlflmnlrah fsletfsdsm arssyeakph tsrimsrykl
       61 gtemnksrwq srrrhgrrsh qqnpwfrlrd sedrsdsraa qpahdsghgd despstssgt
      121 agtssvpelp gfyfdpekkr yfrllpghnn cnpltkesir qkemeskrlr llqeedrrkk
      181 iarmgfnass mlrksqlgfl nvtnychlah elhlscmerk kvqirsmdps alasdrfnli
      241 ladtnsdrlf tvndvkvggs kygiinlqsl ktptlkvfmh enlyftnrkv nsvcwaslnh
      301 ldshillclm glaetpgcat llpaslfvns hpagidrpgm lcsfripgaw scawslniqa
      361 nncfstglsr rvlltnvvtg hrqsfgtnsd vlaqqfalma pllfngcrsg eifaidlrcg
      421 nqgkgwkatr lfhdsavtsv rilqdeqylm asdmagkikl wdlrttkcvr qyeghvneya
      481 ylplhvheee gilvagswwh rkgwldsrmh pphlqertei pqqeklgrdr qvlppfpas
//
LOCUS       XP_054232156            1881 aa            linear   PRI 20-MAR-2023
DEFINITION  ninein isoform X11 [Homo sapiens].
ACCESSION   XP_054232156
VERSION     XP_054232156.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376181.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1881
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1881
                     /product="ninein isoform X11"
                     /calculated_mol_wt=219001
     CDS             1..1881
                     /gene="NIN"
                     /gene_synonym="SCKL7"
                     /coded_by="XM_054376181.1:695..6340"
                     /db_xref="GeneID:51199"
                     /db_xref="HGNC:HGNC:14906"
                     /db_xref="MIM:608684"
ORIGIN      
        1 mleevfhnld pdgtmsvedf fyglfkngks ltpsastpyr qlkrhlsmqs fdesgrrttt
       61 ssamtstigf rvfsclddgm ghasverild twqeegiens qeilkaldfs ldgninltel
      121 tlalenellv tknsihqaal asfkaeirhl lervdqvvre keklrsdldk aeklkslmas
      181 evddhhaaie rrneynlrkl deeykeriaa lknelrkere qilqqagkqr leleqeieka
      241 kteenyirdr lalslkensr lenellenae klaeyenltn klqrnlenvl aekvlqdqvd
      301 elqseleeyr aqgrvlrlpl knspseevea nsggiepehg lgseecnpln msieaelvie
      361 qmkeqhhrdi cclrleledk vrhyekqlde tvvsckkaqe nmkqrhenet htlekqisdl
      421 kneiaelqgq aavlkeahhe atcrheeekk qlqvkleeek thlqeklrlq hemelkarlt
      481 qaqasferer eglqssawte ekvrgltqel eqfhqeqlts lvekhtleke elrkellekh
      541 qrelqegrek metecnrrts qieaqfqsdc qkvtercesa lqslegryrq elkdlqeqqr
      601 eeksqwefek deltqecaea qellketlkr ekttslvltq eremlektyk ehlnsmvver
      661 qqllqdledl rnvsetqqsl lsdqilelks shkrelrere evlcqagase qlasqrlerl
      721 emehdqerqe mmskllamen ihkatcetad reraemstei srlqskikem qqatsplsml
      781 qsgcqvigee evegdgalsl lqqgeqllee ngdvllslqr aheqavkenv kmateisrlq
      841 qrlqklepgl vmsscldepa teffgntaeq tepflqqnrt kqvegvtrrh vlsdleddev
      901 rdlgstgtss vqrqevkiee seasvegfse lenseetrte swelknqisq lqeqlmmlca
      961 dcdrasekkq dllfdvsvlk kklkmlerip easpkyklly edvsrendcl qeelrmmetr
     1021 ydealennke ltaevfrlqd elkkmeevte tflsleksyd evkieneeln vlvlrlqgki
     1081 eklqesvvqr cdcclweasl enleiepdgn ilqlnqtlee cvprvrsvhh vieeckqenq
     1141 ylegntqlle kvkaheiawl hgtiqthqer prvqnqvile enttllgfqd khfqhqatia
     1201 elelektklq eltrklkerv tilvkqkdvl shgekeeelk ammhdlqitc semqqkvell
     1261 ryeseklqqe nsilrneitt lneedsisnl klgtlngsqe emwqktetvk qenaavqkmv
     1321 enlkkqisel kiknqqldle ntelsqknsq nqeklqelnq rltemlcqke kepgnsalee
     1381 reqekfnlke elerckvqss tlvssleael sevkiqthiv qqenhllkde lekmkqlhrc
     1441 pdlsdfqqki ssvlsynekl lkekealsee lnscvdklak ssllehriat mkqeqksweh
     1501 qsaslksqlv asqekvqnle dtvqnvnlqm srmksdlrvt qqekealkqe vmslhkqlqn
     1561 aggkswapei athpsglhnq qkrlswdkld hlmneeqqll wqenerlqtm vqntkaelth
     1621 srekvrqles nllpkhqkhl npsgtmnpte qeklslkrec dqfqkeqspa nrkvsqmnsl
     1681 eqeletihle neglkkkqvk ldeqlmemqh lrstatpsps phawdlqllq qqacpmvpre
     1741 qflqlqrqll qaerinqhlq eelenrtset ntpqgnqeql vtvmeermie veqklklvkr
     1801 llqekvnqlk eqlckntkad amvkdlyven aqllkalevt eqrqktaekk nylleekias
     1861 lsnivrnltp apltstpplr s
//
LOCUS       XP_054169480             139 aa            linear   PRI 20-MAR-2023
DEFINITION  lipid droplet assembly factor 1 isoform X6 [Homo sapiens].
ACCESSION   XP_054169480
VERSION     XP_054169480.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313505.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..139
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..139
                     /product="lipid droplet assembly factor 1 isoform X6"
                     /calculated_mol_wt=14927
     CDS             1..139
                     /gene="LDAF1"
                     /gene_synonym="TMEM159"
                     /coded_by="XM_054313505.1:172..591"
                     /db_xref="GeneID:57146"
                     /db_xref="HGNC:HGNC:30136"
                     /db_xref="MIM:611304"
ORIGIN      
        1 makeepqsis rdlqelqkkl sllidsfqnn skvvafmksp vgqyldshpf laftllvfiv
       61 msavpvgffl livvlttlaa llgviilegl visvggfsll cilcglgfvs lamsgmmias
      121 yvvvsslisc wfsprshei
//
LOCUS       XP_054171328             867 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 27 isoform X2 [Homo sapiens].
ACCESSION   XP_054171328
VERSION     XP_054171328.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315353.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..867
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..867
                     /product="rho GTPase-activating protein 27 isoform X2"
                     /calculated_mol_wt=96030
     CDS             1..867
                     /gene="ARHGAP27"
                     /gene_synonym="CAMGAP1; PP905; SH3D20; SH3P20"
                     /coded_by="XM_054315353.1:182..2785"
                     /db_xref="GeneID:201176"
                     /db_xref="HGNC:HGNC:31813"
                     /db_xref="MIM:610591"
ORIGIN      
        1 maadvvgdvy vlvehpfeyt gkdgrrvair pneryrllrr stehwwhvrr epggrpfylp
       61 aqyvrelpal gnpaaaappg phpspaapep laydyrfvsa aatagpdgap eesggrassl
      121 cgpaqrgaat qrsslapglp aclylrpaap vrpaqslndl acaavsppag llgssgsfka
      181 csvagswvcp rplarsdsen vyeviqdlhv ppreesaeqv ddppepvyan ierqpratsp
      241 gaaaaplpsp vwethtdagt grpyyynpdt gvttwespfe aaegaaspat spasvdshvs
      301 letewgqywd eesrrvffyn pltgetawed eaenepeeel emqpglspgs pgdprpptpe
      361 tdypesltsy peedyspvgs fgepgptspl ttppgwschv sqdkqmlytn hftqeqwvrl
      421 edphgkpyfy npedssvrwe lpqvpvpapr sihkssqdgd tpaqasppee ktktldkagv
      481 lhrtktadkg krlrkkhwsa swtvleggvl tffkdsktsa agglrqpskf stpeytvelr
      541 gatlswapkd kssrknvlel rsrdgseyli qhdseaiist whkaiaqgiq elsaelppee
      601 sessrvdfgs serlgswqek eedarpnaaa palgpvgles dlskvrhklr kflqrrptlq
      661 slrekgyikd qvfgcalaal cerersrvpr fvqqcirave argldidgly risgnlatiq
      721 klrykvdhde rldlddgrwe dvhvitgalk lffrelpepl fpfshfrqfi aaiklqdqar
      781 rsrcvrdlvr slpapnhdtl rmlfqhlcrv iehgeqnrms vqsvaivfgp tllrpeveet
      841 smpmtmvfqn qvvelilqqc adifpph
//
LOCUS       XP_054172264             431 aa            linear   PRI 20-MAR-2023
DEFINITION  P2X purinoceptor 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054172264
VERSION     XP_054172264.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316289.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..431
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..431
                     /product="P2X purinoceptor 1 isoform X1"
                     /calculated_mol_wt=47909
     CDS             1..431
                     /gene="P2RX1"
                     /gene_synonym="P2X1"
                     /coded_by="XM_054316289.1:974..2269"
                     /db_xref="GeneID:5023"
                     /db_xref="HGNC:HGNC:8533"
                     /db_xref="MIM:600845"
ORIGIN      
        1 msgggqrlvl vpgmivpfwa spdlshrags aeseaawdap avwlsreprq awqrlahlwv
       61 flyekgyqts sglissvsvk lkglavtqlp glgpqvwdva dyvfpaqgdn sfvvmtnfiv
      121 tpkqtqgyca ehpeggicke dsgctpgkak rkaqgirtgk cvafndtvkt ceifgwcpve
      181 vdddiprpal lreaenftlf iknsisfprf kvnrrnlvee vnaahmktcl fhktlhplcp
      241 vfqlgyvvqe sgqnfstlae kggvvgitid whcdldwhvr hcrpiyefhg lyeeknlspg
      301 fnfrtpdprq sppspschli psprfarhfv engtnyrhlf kvfgirfdil vdgkagkfdi
      361 iptmttigsg igifgvatvl cdllllhilp krhyykqkkf kyaedmgpga aerdlaatss
      421 tlglqenmrt s
//
LOCUS       XP_047302767             630 aa            linear   PRI 20-MAR-2023
DEFINITION  tubulin-specific chaperone D isoform X26 [Homo sapiens].
ACCESSION   XP_047302767
VERSION     XP_047302767.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047446811.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..630
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..630
                     /product="tubulin-specific chaperone D isoform X26"
                     /calculated_mol_wt=69858
     Region          <290..>352
                     /region_name="TFCD_C"
                     /note="Tubulin folding cofactor D C terminal; cl19887"
                     /db_xref="CDD:450401"
     Region          339..525
                     /region_name="TFCD_C"
                     /note="Tubulin folding cofactor D C terminal; pfam12612"
                     /db_xref="CDD:432669"
     CDS             1..630
                     /gene="TBCD"
                     /coded_by="XM_047446811.1:661..2553"
                     /db_xref="GeneID:6904"
                     /db_xref="HGNC:HGNC:11581"
                     /db_xref="MIM:604649"
ORIGIN      
        1 midhlvtmki shwdgvirel aaralhnlaq qapefsatqv fprllsmtls pdlhtrhgsi
       61 lacaevayal yklaaqenrp vtdhldeqav qglkqihqql ydrqlyrglg gqlmrqavcv
      121 lieklslskm pfrgdtvidg wqwlindtlr hlhlisshsr qqmkdaavsa laalcseyym
      181 kepgeadpai qeelitqyla elrnpeemtr cgfslalgal pgfllkgrlq qvltglravt
      241 htspedvsfa esrrdglkai aricqtvgvk agapdeavcg envsqiycal lgcmddyttd
      301 srgdvgtwvr kaamtslmdl tlllarsqpe lieahtceri mccvaqqase kidrfrahaa
      361 svfltllhfd sppiphvphr geleklfprs dvasvnwsap sqafpritql lglptyryhv
      421 llglvvslgg ltestirhst qslfeymkgi qsdpqalgsf sgtllqifed nllnervsvp
      481 llktldhvlt hgcfdiftte edhpfavkll alckkeikns kdiqkllsgi avfcgmvqfp
      541 gdvrrqallq lclllchrfp lirkttasqv yetlltysdv vgadvldevv tvlsdtawda
      601 elavvreqrn rlcdllgvpr pqlvpqpgac
//
LOCUS       XP_054175135             150 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 66 member 2 isoform X13 [Homo sapiens].
ACCESSION   XP_054175135
VERSION     XP_054175135.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319160.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..150
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..150
                     /product="solute carrier family 66 member 2 isoform X13"
                     /calculated_mol_wt=16862
     CDS             1..150
                     /gene="SLC66A2"
                     /gene_synonym="PQLC1"
                     /coded_by="XM_054319160.1:105..557"
                     /db_xref="GeneID:80148"
                     /db_xref="HGNC:HGNC:26188"
ORIGIN      
        1 meaegldwll vplhqlvswg aaaamvfggv vpyvpqyrdi rrtqnadgfs tyvclvllva
       61 nilrilfwfg rrfespllwq saimiltmll mlklctevrv anelnarrrs ftaadskdee
      121 vkvaprrsfl asrwcscgpv vtpsrrptsc
//
LOCUS       XP_054175633             313 aa            linear   PRI 20-MAR-2023
DEFINITION  uroplakin-1a isoform X1 [Homo sapiens].
ACCESSION   XP_054175633
VERSION     XP_054175633.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319658.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..313
                     /product="uroplakin-1a isoform X1"
                     /calculated_mol_wt=34406
     CDS             1..313
                     /gene="UPK1A"
                     /gene_synonym="TSPAN21; UP1A; UPIA; UPKA"
                     /coded_by="XM_054319658.1:24..965"
                     /db_xref="GeneID:11045"
                     /db_xref="HGNC:HGNC:12577"
                     /db_xref="MIM:611557"
ORIGIN      
        1 mmasaaaaea ekgspvvvgl lvvgniiill sglslfaeti wvtadqyrvy plmgvsgkdd
       61 vfagawiaif cgfsffmvas fgvgaalcrr rsmvltylvl mlivyifeca scitsythrd
      121 ymvsnpslit kqmltfysad tdqgqeltrl wdrvmieqec cgtsgpmdwv nftsafraat
      181 pevvfpwppl ccrrtgnfip lneegcrlgh mdylftkgcf ehighaidsy twgiswfgfa
      241 ilmwtegkat ytprtpphpp passagpgwl phlsppnvps pyvlplprsf srflsptvsq
      301 vcpetpglvc typ
//
LOCUS       XP_054175733             350 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 159 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054175733
VERSION     XP_054175733.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319758.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..350
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..350
                     /product="coiled-coil domain-containing protein 159
                     isoform X1"
                     /calculated_mol_wt=39321
     CDS             1..350
                     /gene="CCDC159"
                     /coded_by="XM_054319758.1:99..1151"
                     /db_xref="GeneID:126075"
                     /db_xref="HGNC:HGNC:26996"
ORIGIN      
        1 mnrwlflgqg sgaysslvqd srardlgmpc fwghsedcrl qarkpletss skvkaktivm
       61 ipdsqkllrc eleslksqlq aqtkafefln hsvtmlekes clqqikiqql eevlsptgrq
      121 gekeehkwgm eqgrqelyga ltqglqglek tlrdseemqr arttrclqll aqeirdskkf
      181 lweelelvre evtfiyqklq aqedeisenl vniqkmqktq vkcrkiltkm kqqghetaac
      241 peteeipqga sgcwkddlqk elsdiwsavh vlqnsidslt lcsgacpkas slrghkghqc
      301 lspplpswds dsdsdqdlsq ppfsksgrsf ppgadppqsp pppislltcp
//
LOCUS       XP_054177665             414 aa            linear   PRI 20-MAR-2023
DEFINITION  B-cell lymphoma 3 protein isoform X7 [Homo sapiens].
ACCESSION   XP_054177665
VERSION     XP_054177665.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321690.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..414
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..414
                     /product="B-cell lymphoma 3 protein isoform X7"
                     /calculated_mol_wt=44018
     CDS             1..414
                     /gene="BCL3"
                     /gene_synonym="BCL4; D19S37"
                     /coded_by="XM_054321690.1:1629..2873"
                     /db_xref="GeneID:602"
                     /db_xref="HGNC:HGNC:998"
                     /db_xref="MIM:109560"
ORIGIN      
        1 meegrernrs wppaecqslp rvrlftptke etaqrgevfg qghparallp lyptramgsp
       61 fplvnlptpl ypmmcpmehp lsadiamatr adedgdtplh iavvqgnlpa vhrlvnlfqq
      121 ggreldiynn lrqtplhlav ittlpsvvrl lvtagaspma ldrhgqtaah lacehrsptc
      181 lralldsaap gtldlearny dgltalhvav ntecqetvql llergadida vdiksgrspl
      241 ihavennsls mvqlllqhga nvnaqmysgs salhsasgrg llplvrtlvr sgadsslknc
      301 hndtplmvar srrvidilrg katrpastsq pdpspdrsan tspesssrls sngllsasps
      361 sspsqspprd ppgfpmappn fflpspsppa flpfagvlrg pgrpvppspa pggs
//
LOCUS       XP_054196355             923 aa            linear   PRI 20-MAR-2023
DEFINITION  oxysterol-binding protein-related protein 6 isoform X8 [Homo
            sapiens].
ACCESSION   XP_054196355
VERSION     XP_054196355.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340380.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..923
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..923
                     /product="oxysterol-binding protein-related protein 6
                     isoform X8"
                     /calculated_mol_wt=104815
     CDS             1..923
                     /gene="OSBPL6"
                     /gene_synonym="ORP6"
                     /coded_by="XM_054340380.1:516..3287"
                     /db_xref="GeneID:114880"
                     /db_xref="HGNC:HGNC:16388"
                     /db_xref="MIM:606734"
ORIGIN      
        1 mssdekgisp ahktstpthr sassstssqr dsrqsihile rtasssteps vsrqllepep
       61 vplskeadsw eiieglkigq tnvqkpdkhe gfmlkkrkwp lkgwhkrffv ldngmlkysk
      121 apldiqkgkv hgsidvglsv msikkkarri dldteehiyh lkvksqdwfd awvsklrhhr
      181 lyrqneivrs prdasfhifp ststaesspa anvsvmdgkm qpnsfpwqsp lpcsnslpat
      241 cttgqskvaa wlqdseemdr caedlahcqs nlvelskllq nleilqrtqs apnftdmqan
      301 cvdiskkdkr vtrrwrtksv skdtkiqlqe gppakgqfst trrrqrlaaa vattvpfsat
      361 mspvrlhssn pnlcadiefq tppshltdpl esstdytklq eefcliaqkv hsllksafns
      421 iaiekeklkq mvseqdhskg hstqmarlrq slsqageqih vslplsqqva nesrlsmses
      481 vseffdaqev llsasssene asddesyisd vsdnisednt svadnisrqi lngeltggaf
      541 rngrraclpa pcpdtsninl wnilrnnigk dlskvsmpve lneplntlqh lceemeysel
      601 ldkasetddp yermvlvaaf avsgycstyf ragskpfnpv lgetyecire dkgfrffseq
      661 vshhppisac hcesknfvfw qdirwknkfw gksmeilpvg tlnvmlpkyg dyyvwnkvtt
      721 cihnilsgrr wiehygevti rntkssvcic kltfvkvnyw nsnmnevqgv vidqegkavy
      781 rlfgkwhegl ycgvapsakc iwrpgsmptn yelyygftrf aielneldpv lkdllpptda
      841 rfrpdqrfle egnleaaase kqrveelqrs rrrymeennl ehipkffkkv idanqreawv
      901 sndtywelrk dpgfskvdsp vlw
//
LOCUS       XP_054198725            2436 aa            linear   PRI 20-MAR-2023
DEFINITION  telomere-associated protein RIF1 isoform X5 [Homo sapiens].
ACCESSION   XP_054198725
VERSION     XP_054198725.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342750.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2436
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2436
                     /product="telomere-associated protein RIF1 isoform X5"
                     /calculated_mol_wt=270665
     CDS             1..2436
                     /gene="RIF1"
                     /coded_by="XM_054342750.1:43..7353"
                     /db_xref="GeneID:55183"
                     /db_xref="HGNC:HGNC:23207"
                     /db_xref="MIM:608952"
ORIGIN      
        1 mtgeegkevi teiekklprl ykvlkthiss qnselssaal qalgfclynp kitselsean
       61 alellsklnd tiknsdknvr tralwviskq tfpsevvgkm vssiidslei lfnkgethsa
      121 vvdfealnvi vrlieqapiq mgeeavrwak lviplvvhsa qkvhlrgata lemgmplllq
      181 kqqeiasite qlmttklise lqklfmskne tyvlklwplf vkllgrtlhr sgsfinsllq
      241 leelgfrsga pmikkiafia wkslidnfal npdilcsakr lkllmqplss ihvrtetlal
      301 tklevwwyll mrlgphlpan feqvcvpliq stisidsnas pqgnschvat spglnpmtpv
      361 hkgasspyga pgtprmnlss nlggmatips iqllglemll hfllgpeals fakqnklvls
      421 leplehplis spsffskhan tlitavhdsf vavgkdapdv vvsaiwkeli slvksvtesg
      481 nkkekpgsev ltlllksles ivksevfpvs ktlvlmeiti kglpqkvlgs payqvanmdi
      541 lngtpalfli qlifnnflec gvsderffls leslvgcvls gptsplafsd svlnvinqna
      601 kqlenkehlw kmwsvivtpl telinqtnev nqgdalehnf saiygaltlp vnhifseqrf
      661 pvatmktllr twselyrafa rcaalvatae enlcceelss kimssledeg fsnllfvdri
      721 iyiitvmvdc idfspyniky qpkvkspqrp sdwskkknep lgkltslfkl ivkviysfht
      781 lsfkeahsdt lftignsits iissvlghis lpsmirkifa tltrplalfy enskldevpk
      841 vysclnnkle kllgeiiacl qfsytgtyds elleqlspll ciiflhknkq irkqsaqfwn
      901 atfakvmmlv ypeelkpvlt qakqkfllll pgletvemme essgpysdgt ensqlnvkis
      961 gmerksngkr dsflaqtknk kenmkpaakl klessslkvk geilleeeks tdfvfippeg
     1021 kdakeriltd hqkevlktkr cdipamynnl dvsqdtlftq ysqeepmeip tltrkpkeds
     1081 kmmiteeqmd sdivipqdvt edcgmaehle ksslsnnecg sldktspems nsnnderkka
     1141 lissrktste casstensfv vssssvsntt vagtppypts rrqtfitlek fdgsenrpfs
     1201 psplnnisst vtvknnqetm iktdflpkak qregtfsksd sekivngtkr ssrragkaeq
     1261 tgnkrskplm rsepekntee svegivvlen nppgllnqte cvsdnqvhls estmehdntk
     1321 lkaatmenav lletntveek nveinleske ntppvvisad qmvnedsqvq itpnqktlrr
     1381 ssrrrsevve sttesqdken shqkkerrke eekplqkspl hikddvlpkq kliaeqtlqe
     1441 nliekgsnlh ektlgetsan aeteqnkkka dpeniksegd gtqdivdkss eklvrgrtry
     1501 qtrrasqgll ssiensesds seakeegsrk krsgkwknks nesvdiqdqe ekvvkqecik
     1561 aenqshdyka tseedvsiks picekqdesn tvicqdstvt sdllqvpddl pnvceeknet
     1621 skyaeysfts lpvpesnlrt rnaikrlhkr dsfdncslge sskigisdis slsektfqtl
     1681 ecqhkrsrrv rrskgcdccg eksqpqeksl iglkntennd veisetkkad vqapvspset
     1741 sqanpysegq fldehhsvnf hlglkedndt indslivset kskentmqes lpsgivnfre
     1801 eicdmdssea mslesqespn enfktvgpcl gdsknvsqes letkeekpee tpkmelslen
     1861 vtvegnackv tesnlekakt melnvgneas fhgqertktg iseeaaieen krnddseadt
     1921 aklnakevat eefnsdisls dnttpvklna qteiseqtaa geldggndvs dlhsseetnt
     1981 kmknyeemmi geamaetghd getenegitt ktskpdeaet nmltaemdnf vcdtvemste
     2041 egiidankte tnteysksee kldnnqmvme sdilqedhht sqkveepsqc lasgtaisel
     2101 iiednnaspq klreldpslv sandspsgmq trcvwsplas pstsilkrgl krsqedeiss
     2161 pvnkvrrvsf adpiyqagla ddidrrcsiv rshssnsspi gksvktsptt qskhnttsak
     2221 gflspgsrsp kfksskkcli semakesipc ptesvypplv ncvapvdiil pqitsnmwar
     2281 glgqlirakn iktigdlstl taseiktlpi rspkvsnvkk alriyheqqv ktrgleeipv
     2341 fdisektvng ienkslspde erlvsdiidp valeiplskn lvaqisalal qldsedlhny
     2401 sgsqlfemhe klscmansvi knlqsrwrsp shensi
//
LOCUS       XP_054199317             414 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial
            isoform X2 [Homo sapiens].
ACCESSION   XP_054199317
VERSION     XP_054199317.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343342.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..414
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..414
                     /product="tRNA N6-adenosine threonylcarbamoyltransferase,
                     mitochondrial isoform X2"
                     /calculated_mol_wt=44992
     CDS             1..414
                     /gene="OSGEPL1"
                     /gene_synonym="OSGEPL; Qri7"
                     /coded_by="XM_054343342.1:129..1373"
                     /db_xref="GeneID:64172"
                     /db_xref="HGNC:HGNC:23075"
                     /db_xref="MIM:619634"
ORIGIN      
        1 mliltktagv ffkpskrkvy eflrsfnfhp gtlflhkivl gietscddta aavvdetgnv
       61 lgeaihsqte vhlktggivp paaqqlhren iqrivqeals asgvspsdls aiattikpgl
      121 alslgvglsf slqlvgqlkk pfipihhmea haltirltnk vefpflvlli sgghcllalv
      181 qgvsdflllg ksldiapgdm ldkvarrlsl ikhpecstms ggkaiehlak qgnrfhfdik
      241 pplhhakncd fsftglqhvt dkiimkkeke egiekgqils saadiaatvq htmachlvkr
      301 thrailfckq rdllpqnnav lvasggvasn fyirraleil tnatqctllc ppprlctdng
      361 imiawngier lraglgilhd iegiryepkc plgvdiskev geasikvpql kmei
//
LOCUS       XP_054180469             609 aa            linear   PRI 20-MAR-2023
DEFINITION  interferon-induced GTP-binding protein Mx1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054180469
VERSION     XP_054180469.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324494.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..609
                     /product="interferon-induced GTP-binding protein Mx1
                     isoform X2"
                     /calculated_mol_wt=69162
     CDS             1..609
                     /gene="MX1"
                     /gene_synonym="IFI-78K; IFI78; lncMX1-215; MX; MxA"
                     /coded_by="XM_054324494.1:764..2593"
                     /db_xref="GeneID:4599"
                     /db_xref="HGNC:HGNC:7532"
                     /db_xref="MIM:147150"
ORIGIN      
        1 mvvsevdiak adpaaashpl llngdatvaq knpgsvaenn lcsqyeekvr pcidlidslr
       61 algveqdlal paiavigdqs sgkssvleal sgvalprgsg ivtrcplvlk lkklvnedkw
      121 rgkvsyqdye ieisdaseve keinkaqnai agegmgishe litleissrd vpdltlidlp
      181 gitrvavgnq padigykikt likkyiqrqe tislvvvpsn vdiatteals maqevdpegd
      241 rtigiltkpd lvdkgtedkv vdvvrnlvfh lkkgymivkc rgqqeiqdql slsealqrek
      301 iffenhpyfr dlleegkatv pclaekltse lithickslp llenqiketh qriteelqky
      361 gvdipedene kmfflidkin afnqditalm qgeetvgeed irlftrlrhe fhkwstiien
      421 nfqedmvrla ftdvsiknfe effnlhrtak skiediraeq eregeklirl hfqmeqivyc
      481 qdqvyrgalq kvrekeleee kkkkswdfga fqsssatdss meeifqhlma yhqeaskris
      541 shipliiqff mlqtygqqlq kamlqllqdk dtyswllker sdtsdkrkfl kerlarltqa
      601 rrrlaqfpg
//
LOCUS       XP_054202018            1760 aa            linear   PRI 20-MAR-2023
DEFINITION  target of Nesh-SH3 isoform X17 [Homo sapiens].
ACCESSION   XP_054202018
VERSION     XP_054202018.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346043.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1760
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1760
                     /product="target of Nesh-SH3 isoform X17"
                     /calculated_mol_wt=193677
     CDS             1..1760
                     /gene="ABI3BP"
                     /gene_synonym="NESHBP; TARSH"
                     /coded_by="XM_054346043.1:17..5299"
                     /db_xref="GeneID:25890"
                     /db_xref="HGNC:HGNC:17265"
                     /db_xref="MIM:606279"
ORIGIN      
        1 mrggkcnmls slgclllcgs itlalgnaqk lpkgkrpnlk vhinttsdsi llkflrpspn
       61 vkleglllgy gsnvspnqyf plpaegkfte aivdaepkyl ivvrpappps qkkscsgktr
      121 srkplqlvvg tltpssvfls wgflinphhd wtlpshcpnd rfytiryrek dkekkwifqi
      181 cpatetiven lkpntvyefg vkdnveggiw skifnhktvv gskkvngkiq stydqdhtvp
      241 ayvprklipi tiikqviqnv thkdsakspe kaplggvilv hliipglnet tvklpaslmf
      301 eisdalktql aknetlalpa esktpeveki sarpttvtpe tvprstkptt ssaldvsett
      361 lvlskrtpet lqtilipqfe lplstlapks lpefpeaktp fpfekprgtl assekpwivp
      421 takisedskv lqpqtatydv fsspttsdep eisdsytats drildsippk tsrtleqpra
      481 tlapsetpfv pqkleiftsp emqpttpapq qttsipstpk rrprpkpprt kperttsagt
      541 itpkiskspe ptwttpapgk tqfislkpki plspevthtk pgpetpgtkp sttlaprktk
      601 rpgrrprprp rpkttpspev pkskpalepa tiqpeplvpt taskpserpk tthrpdapqi
      661 qpgskppkql lpkpqttaep dmpptksvse pvpfeteaps mtivpttdie pvtvrteatv
      721 ttlapktsqr trtrrprpkh kttprpetlq tkldfgpitp gtssaptttt krtrrphpkp
      781 kttphpevpq tklapkvpqr thrphpkpkt tlspeelqte lvpatifepv spikeapgtt
      841 fvpvtdlepv tfrteipatt latktskrtr pprprpkttp spqapetkpv patvlepvtl
      901 rpeasttlas ktsqrtrrpr lrtkttprpe apeskpvpta elkpvtlrte twvttqapkt
      961 sqrtrrprpk tkttpspevp qtklvpstdl epgtlrteap ktmvvttvle pdtfrtkfpe
     1021 ttlapktqrt rrprprpktt sspevpqnks vsvtgfepvv hstdapgttf altelqtlil
     1081 kpvtspslem tesqpvsdvl esvtlstesp ketiapaktd yvyptakapl wpeepktevv
     1141 esityvsepp ettletsplp sqsitlpspd epqtepapkq tprappkpkt sprpripqtq
     1201 pvpkvpqrvt akpktspspe vsyttpapkd vllphkpype vsqsepvlqp vtfrfeppkt
     1261 tiapletrgi pfipmispsp sqeelqttle etdqstqepf ttkiprttel akttqaphrf
     1321 yttvrprtsd kphirpvlnr tttrptrpkp sgmpsgngvg tgvkqaprps gadrnvsvds
     1381 thptkkpgtr rpplpprpth prrkplppnn vtgkpgsagi issgpittpp lrstprptgt
     1441 plerietdik qptvpasgee lenitdfsss ptretdplgk prfkgphvry iqkpdnspcs
     1501 itdsvkrfpk eeategnats ppqnpptnlt vvtvegcpsf vildwekpln dtvteyevis
     1561 rengsfsgkn ksiqmtnqtf stvenlkpnt syefqvkpkn plgegpvsnt vafstesadp
     1621 rvsepvsagr daiwterpfn sdsyseckgk qyvkrtwykk fvgvqlcnsl rykiylsdsl
     1681 tgkfynigdq rghgedhcqf vdsfldgrtg qqltsdqlpi kegyfravrq epvqfgeigg
     1741 htqinyvqwy ecgttipgkw
//
LOCUS       XP_054202731             412 aa            linear   PRI 20-MAR-2023
DEFINITION  palmitoyltransferase ZDHHC3 isoform X1 [Homo sapiens].
ACCESSION   XP_054202731
VERSION     XP_054202731.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346756.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..412
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..412
                     /product="palmitoyltransferase ZDHHC3 isoform X1"
                     /calculated_mol_wt=46348
     CDS             1..412
                     /gene="ZDHHC3"
                     /gene_synonym="DHHC-3; DHHC3; GODZ; ZNF373"
                     /coded_by="XM_054346756.1:367..1605"
                     /db_xref="GeneID:51304"
                     /db_xref="HGNC:HGNC:18470"
                     /db_xref="MIM:617150"
ORIGIN      
        1 mmlipthhfr nierkpeylq pekcvpppyp gpvgtmwfir dgcgiacaiv twflvlyaef
       61 vvlfvmlips rdyvysiing ivfnllafla lashcramlt dpvrtctema ftllgrgasf
      121 pekldkpvsg rskcllgavp kgnatkefie slqlkpgqvv ykcpkccsik pdrahhcsvc
      181 krcirkmdhh cpwvnncvge nnqkyfvlft myialislha limvgfhflh cfeedwttyg
      241 lnreemaetg islhekmqpl nfsstecssf sppttvilli llcfegllfl iftsvmfgtq
      301 vhsictdetk rwrkqcpqwr vkglcagccg pgelawpcly llwasphpnt lsvawwlscs
      361 rhpeaghrap qtkepaqgah gelavskgdl wwgllpelvq pllqtvsard pq
//
LOCUS       XP_054204407             480 aa            linear   PRI 20-MAR-2023
DEFINITION  2-phosphoxylose phosphatase 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054204407
VERSION     XP_054204407.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348432.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..480
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..480
                     /product="2-phosphoxylose phosphatase 1 isoform X1"
                     /calculated_mol_wt=55109
     CDS             1..480
                     /gene="PXYLP1"
                     /gene_synonym="ACPL2; HEL124; XYLP"
                     /coded_by="XM_054348432.1:3524..4966"
                     /db_xref="GeneID:92370"
                     /db_xref="HGNC:HGNC:26303"
                     /db_xref="MIM:619732"
ORIGIN      
        1 mlfrnrflll lalaallafv slslqffhli pvstpkngms sksrkrimpd pvteppvtdp
       61 vyeallycni psvaersmeg haphhfklvs vhvfirhgdr yplyvipktk rpeidctlva
      121 nrkpyhpkle afishmskgs gasfesplns lplypnhplc emgeltqtgv vqhlqngqll
      181 rdiylkkhkl lpndwsadql ylettgksrt lqsglallyg flpdfdwkki yfrhqpsalf
      241 csgscycpvr nqylekeqrr qyllrlknsq lektygemak ivdvptkqlr aanpidsmlc
      301 hfchnvsfpc trngcvdmeh fkvikthqie dererrekkl yfgysllgah pilnqtigrm
      361 qrategrkee lfalysahdv tlspvlsalg lsearfprfa arlifelwqd rekpsehsvr
      421 ilyngvdvtf htsfcqdhhk rspkpmcple nlvrfvkrdm fvalggsgtn yydachregf
//
LOCUS       XP_054207512            1147 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptopodin isoform X1 [Homo sapiens].
ACCESSION   XP_054207512
VERSION     XP_054207512.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351537.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1147
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1147
                     /product="synaptopodin isoform X1"
                     /calculated_mol_wt=122062
     CDS             1..1147
                     /gene="SYNPO"
                     /coded_by="XM_054351537.1:545..3988"
                     /db_xref="GeneID:11346"
                     /db_xref="HGNC:HGNC:30672"
                     /db_xref="MIM:608155"
ORIGIN      
        1 mlgphlpppp lapsegrptp cafqipdgsy rclaleaees sgeeglqgev gptdleedeg
       61 vsrsgddsac rvtqgtpqlp kalgiqppsc sreeqgasqh ddrasqdwdv vkagqmmtas
      121 pspgpgprva qkpalgrsts ltekdlkeak arsqqiaaql ttppssnsrg vqlfnrrrqr
      181 vneftleshg qrgqkpsqes lrvlpsslpg hapglslsst slpepgpprh pspqspdrgv
      241 pghsmegyse easllrhlek vaseeeevpl vvylkenaal ltanglhlsq nreaqqsspa
      301 pppaevhspa advnqnlasp satlttptsn sshnppatdv nqnppatvvp qslplssiqq
      361 nsseaqlpsn gtgpaskpst lcadgqpqap aeevrcstll idkvstpatt tstfsreatl
      421 ipssrppasd fmsssllidi qpntlvvsad qemsgraaat tptkvysevh ftlakppsvv
      481 nrtarpfgiq apggtsqmer spmlerrhfg ekapapqpps lpdrsprpqr himsrspmve
      541 rrmmgqrspa serrplgnft apptytetls taplaswvrs ppsysvlyps sdpksshlkg
      601 qavpasktgi leesmarrgs rksmftfvek pkvtpnpdll dlvqtadekr rqrdqgevgv
      661 eeepfalgae asnfqqepap rdraspaaae evvpewascl kspriqakpk pkpnqnlsea
      721 sgkgaelyar rqsrmekyvi essshtpela rcpsptmslp sswkyptnap gafrvasrsp
      781 artppaslyh gylpengvlr peptkqppyq lrpslfvlsp ikepakvspr aaspakpssl
      841 dlvpnlpkga lppspalprp srsspglyts pgqdslqpta vsppyggdis pvspsrawsp
      901 rakqaprpsf strnagieaq drreslptsp pwtpgasrpp ssldgwvspg pwepgrgssm
      961 ssppplpppp pmspswsers vsplrpetea rppsrqlqal larniinaar rksasprsag
     1021 aenprpfspp rapppppppp pppprmrspq parpgsaavp gaafapiprs plpagpssct
     1081 sprsplpapp rpflyrrspt dsdvsldsed sgakspgilg ynicprgwng slrlkrgslp
     1141 aeasctt
//
LOCUS       XP_054209007             584 aa            linear   PRI 20-MAR-2023
DEFINITION  cell cycle checkpoint protein RAD17 isoform X2 [Homo sapiens].
ACCESSION   XP_054209007
VERSION     XP_054209007.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353032.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..584
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..584
                     /product="cell cycle checkpoint protein RAD17 isoform X2"
                     /calculated_mol_wt=66025
     CDS             1..584
                     /gene="RAD17"
                     /gene_synonym="CCYC; HRAD17; R24L; RAD17SP; RAD24"
                     /coded_by="XM_054353032.1:642..2396"
                     /db_xref="GeneID:5884"
                     /db_xref="HGNC:HGNC:9807"
                     /db_xref="MIM:603139"
ORIGIN      
        1 mnqhelavhk kkieevetwl kaqvlerqpk qggsillitg ppgcgktttl kilskehgiq
       61 vqewinpvlp dfqkddfkgm fntessfhmf pyqsqiavfk efllratkyn klqmlgddlr
      121 tdkkiilved lpnqfyrdsh tlhevlrkyv rigrcplifi isdslsgdnn qrllfpkeiq
      181 eecsisnisf npvaptimmk flnrivtiea nknggkitvp dktslellcq gcsgdirsai
      241 nslqfssskg ennlrprkkg mslksdavls kskrrkkpdr vfenqevqai ggkdvslflf
      301 ralgkilyck raslteldsp rlpshlseye rdtllvepee vvemshmpgd lfnlylhqny
      361 idffmeiddi vraseflsfa dilsgdwntr sllreystsi atrgvmhsnk argyahcqgg
      421 gssfrplhkp qwflinkkyr enclaakalf pdfclpalcl qtqllpylal ltipmrnqaq
      481 isfiqdigrl plkrhfgrlk mealtdrehg midpdsgdea qlngghsaee slgeptqatv
      541 petwslplsq nsaselpasq pqpfsaqgdm eeniiiedye sdgt
//
LOCUS       XP_054209146             576 aa            linear   PRI 20-MAR-2023
DEFINITION  ran-binding protein 17 isoform X14 [Homo sapiens].
ACCESSION   XP_054209146
VERSION     XP_054209146.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353171.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..576
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..576
                     /product="ran-binding protein 17 isoform X14"
                     /calculated_mol_wt=65370
     CDS             1..576
                     /gene="RANBP17"
                     /coded_by="XM_054353171.1:17..1747"
                     /db_xref="GeneID:64901"
                     /db_xref="HGNC:HGNC:14428"
                     /db_xref="MIM:606141"
ORIGIN      
        1 malhfqslae levlcthlyi gtdltqriea ekallelids peclskcqll leqgttsyaq
       61 llaatclskl vsrvsplpve qrmdirnyil nyvasqpkla pfviqaliqv iakitklgwf
      121 evqkdqfvfr eiiadvkkfl qgtvehciig viilseltqe mnlvdysrps akhrkiatsf
      181 rdtslkdvlv lacsllkevf akplnlqdqc qqnlvmqvlk lvlnclnfdf igssadesad
      241 dlctvqiptt wrtiflepet ldlffnlyhs lppllsqlal sclvqfastr rslfnspera
      301 kylgnlikgv krilenpqgl sdpgnyhefc rflarlktny qlgelvmvke ypevirlian
      361 ftitslqhwe fapnsvhyll tlwqrmvasv pfvkstephl ldtyapeitk afitsrldsv
      421 aivvrdhldd plddtatvfq qleqlctvsr ceyektcall vqlfdqnaqn yqkllhpysg
      481 vtvditiqeg rlawlvylvg tvvggrltyt stdehdamdg elscrvfqli slmdtglprc
      541 cnekielail wfldqfrkty vgdqlqrtsk kkianp
//
LOCUS       XP_047300501             623 aa            linear   PRI 20-MAR-2023
DEFINITION  putative POM121-like protein 1-like isoform X2 [Homo sapiens].
ACCESSION   XP_047300501
VERSION     XP_047300501.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047444545.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..623
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..623
                     /product="putative POM121-like protein 1-like isoform X2"
                     /calculated_mol_wt=65632
     Region          1..204
                     /region_name="POM121"
                     /note="POM121 family; pfam15229"
                     /db_xref="CDD:434551"
     Region          <372..>468
                     /region_name="POM121"
                     /note="POM121 family; pfam15229"
                     /db_xref="CDD:434551"
     CDS             1..623
                     /gene="LOC124906498"
                     /coded_by="XM_047444545.1:3665..5536"
                     /db_xref="GeneID:124906498"
ORIGIN      
        1 mpeqdkdprv qenpddhrtv pevtgdarsa fwplrdnggl spfvprpgpl qtdlhaqsse
       61 irynqtsqts wtssstkrna isssysstgg lpglkqrrgp assrcqltls ysktvsedrp
      121 qavssghtrc ekaadtapgq tlaprggspr sqasrprrrk ipllpsrrge plmmppplel
      181 gyrvtaedlh lekqaafqri nsalhvedka isdcrpsrps htlsslatga sggppvskap
      241 tmdaqqdrpk sqdclglvap lasaaevsst apvsgkkqrp pgplfsssdp lpatsshsrd
      301 saqvtsmipa pftaasrdag mrrtrsapaa aaaapppstl nptsgsllna vdggpshfla
      361 sataaaraqr sevrynqrsq isrtrsclkr nasssshsst eglqelkrrr gpasshcqla
      421 lsssntvsed gpqavssrdt rcekadtapg qtlaprggsp rsqasrprin salhvedkai
      481 sdcrpsrpsh tlsslatgas ggppvskapt mdaqqdrpks qdclglvapl asaaevssta
      541 pvsgkkhrpp gplfsssdpl patsshsgds aqdtslipap ftpasrdagv rrmfcvrncl
      601 rglglfllvf slfflltwas fsf
//
LOCUS       XP_054211102             578 aa            linear   PRI 20-MAR-2023
DEFINITION  DBH-like monooxygenase protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054211102
VERSION     XP_054211102.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355127.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..578
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..578
                     /product="DBH-like monooxygenase protein 1 isoform X1"
                     /calculated_mol_wt=66030
     CDS             1..578
                     /gene="MOXD1"
                     /gene_synonym="dJ248E1.1; MOX; PRO5780"
                     /coded_by="XM_054355127.1:96..1832"
                     /db_xref="GeneID:26002"
                     /db_xref="HGNC:HGNC:21063"
                     /db_xref="MIM:609000"
ORIGIN      
        1 mccwpllllw gllpgtaagg sgrtyphrtl ldsegkywlg wsqrgsqiaf rlqdyftnan
       61 relkkdaqqd yhleyamens thtiieftre lhtcdindks itdstvrviw ayhhedagea
      121 gpkyhdsnrg tkslrllnpe ktsvlstalp yfdlvnqdvp ipnkdttywc qmfkipvfqe
      181 khhvikvepv iqrgheslvh hillyqcsnn fndsvlesgh ecyhpnmpda fltcetvifa
      241 waiggegfsy pphvglslgt pldphyvlle vhydnptyee glidnsglrl fytmdirkyd
      301 agvieaglwv slfhtippgm pefqseghct lecleealea ekpsgihvfa vllhahlagr
      361 girlrhfrkg kemkllaydd dfdfnfqefq ylkeeqtilp gdnlitecry ntkdraemtw
      421 gglstrsemc lsyllyypri nltrcasipd imeqlqfigv keiyrpvttw pfiikspkqy
      481 knlsfmdamn kfkwtkkegl sfnklvlslp vnvrcsktdn aewsiqgmta lppdierpyk
      541 aeplvcgtss ssslhrdfsi nllvclllls ctlstksl
//
LOCUS       XP_054212607             417 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 22 member 16 isoform X8 [Homo sapiens].
ACCESSION   XP_054212607
VERSION     XP_054212607.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356632.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..417
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..417
                     /product="solute carrier family 22 member 16 isoform X8"
                     /calculated_mol_wt=46200
     CDS             1..417
                     /gene="SLC22A16"
                     /gene_synonym="CT2; dJ261K5.1; FLIPT2; HEL-S-18; OAT6;
                     OCT6; OKB1"
                     /coded_by="XM_054356632.1:40..1293"
                     /db_xref="GeneID:85413"
                     /db_xref="HGNC:HGNC:20302"
                     /db_xref="MIM:608276"
ORIGIN      
        1 mgsrhfegiy dhvghfgrfq rvlyficafq niscgihyla svfmgvtphh vcrppgnvas
       61 gylvvgfvyv mefigmksrt wasvhlhsff avgtllvalt gylvrtwwly qmilstvtvp
      121 filccwvlpe tpfwllsegr yeeaqkivdi makwnrassc klsellsldl qgpvsnspte
      181 vqkhnlsylf ynwsitkrtl tvwliwftgs lgfysfslns vnlggneyln lfllgvveip
      241 aytfvciamd kvgrrtvlay slfcsalacg vvmvipqkhy ilgvvtamvg kfaigaafgl
      301 iylytaelyp tivrslavgs gsmvcrlasi lapfsvdlss iwifipqlfv gtmallsgvl
      361 tlklpetlgk rlattweeaa klesenesks sklllttnns glekteaitp rdsglge
//
LOCUS       XP_054212674             204 aa            linear   PRI 20-MAR-2023
DEFINITION  G1/S-specific cyclin-D3 isoform X2 [Homo sapiens].
ACCESSION   XP_054212674
VERSION     XP_054212674.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356699.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..204
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..204
                     /product="G1/S-specific cyclin-D3 isoform X2"
                     /calculated_mol_wt=22890
     CDS             1..204
                     /gene="CCND3"
                     /coded_by="XM_054356699.1:158..772"
                     /db_xref="GeneID:896"
                     /db_xref="HGNC:HGNC:1585"
                     /db_xref="MIM:123834"
ORIGIN      
        1 mellccegtr hapragpdpr llgdqrvlqs llrleeryvp rasyfqcvqr eikphmrkml
       61 aywmledwev lvlgklkwdl aaviahdfla filhrlslpr drqalvkkha qtflalcatg
      121 lpaglsgadr sctqgepqgs lsdqlqpsaq sppglqqpra qpdqhsyrch shtpvalerp
      181 sgvatkqrrg rchpppclqe phhi
//
LOCUS       XP_054213528             433 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA1-associated ATM activator 1 isoform X15 [Homo sapiens].
ACCESSION   XP_054213528
VERSION     XP_054213528.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357553.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..433
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..433
                     /product="BRCA1-associated ATM activator 1 isoform X15"
                     /calculated_mol_wt=47233
     CDS             1..433
                     /gene="BRAT1"
                     /gene_synonym="BAAT1; C7orf27; NEDCAS; RMFSL"
                     /coded_by="XM_054357553.1:58..1359"
                     /db_xref="GeneID:221927"
                     /db_xref="HGNC:HGNC:21701"
                     /db_xref="MIM:614506"
ORIGIN      
        1 mgraqglllv kihqhagvlk kafqatlrwl lsspktpgcs dlgplipqfl relfpvlqkr
       61 lchpcwevrd salefltqls rhwggqadfr callasevpq lalqllqdpe syvrasavta
      121 mgqlssqglh aptspehaea rqmgklrigg pcahcaaweg vragcgprlh vrgqppsctg
      181 vllweprsch ttnhphllpv pqslflellh ilsvdsegfp rravmqvfte wlrdghadaa
      241 qdteqfvatv lqaasqdldw evraqglela lvflgqtlgp prthcpyava lpevapaqpl
      301 tealralchv glfdfafcal fdcdrpvaqk scdlllflrd kiasysslre argspntasa
      361 eatlprwrag eqaqppgdqe peavlamlrs ldleglrstl aessdhveks pqsllqdmla
      421 tggflqgdea dcy
//
LOCUS       XP_054214211             688 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat and calponin homology domain-containing protein
            4 isoform X6 [Homo sapiens].
ACCESSION   XP_054214211
VERSION     XP_054214211.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358236.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..688
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..688
                     /product="leucine-rich repeat and calponin homology
                     domain-containing protein 4 isoform X6"
                     /calculated_mol_wt=72614
     CDS             1..688
                     /gene="LRCH4"
                     /gene_synonym="LRN; LRRN1; LRRN4; PP14183"
                     /coded_by="XM_054358236.1:30..2096"
                     /db_xref="GeneID:4034"
                     /db_xref="HGNC:HGNC:6691"
                     /db_xref="MIM:620165"
ORIGIN      
        1 maaavaapla aggeeaaatt svpgspglpg rrsaeralee avatgtlnls nrrlkhfprg
       61 aarsydlsdi tqadlsrnrf pevpeaacql vsleglslyh nclrclnpal gnltaltyln
      121 lsrnqlsllp pyicqlplrv livsnnklga lppdigtlgs lrqldvssne lqslpselcg
      181 lsslrdlnvr rnqlstlpee lgdlplvrld fscnrvsrip vsfcrlrhlq villdsnplq
      241 sppaqrpgsv grpwgtwpll gprvsvpggw gavvqhqadq irlagpspae dlfpghrydg
      301 gldsgfhsvd sgskrwsgne stdefselsf riselarepr gprerkedgs adgdpvqidf
      361 idshvpgede ergtveeqrp pelspgagdr erapsssllk pglravvgga aavstqamhn
      421 gspkssasqa gaaagqgapa papasqeplp iagpatapap rplgsiqrpn sflfrsssqs
      481 gsgpsspdsv lrprrypqvp dekdlmtqlr qvlesrlqrp lpedlaeala sgvilcqlan
      541 qlrprsvpfi hvpspavpkl salkarknve sfleacrkmg vpevwgllsk ewwhaglsra
      601 cgmdgglpfa advcsqmkaq aapalpsmpp alhapcpach lsytspalqa pscpachlsc
      661 tcpalhssct alplpstsac grgsgpst
//
LOCUS       XP_054214336             256 aa            linear   PRI 20-MAR-2023
DEFINITION  platelet-derived growth factor subunit A isoform X1 [Homo sapiens].
ACCESSION   XP_054214336
VERSION     XP_054214336.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358361.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..256
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..256
                     /product="platelet-derived growth factor subunit A isoform
                     X1"
                     /calculated_mol_wt=28159
     CDS             1..256
                     /gene="PDGFA"
                     /gene_synonym="PDGF-A; PDGF1"
                     /coded_by="XM_054358361.1:233..1003"
                     /db_xref="GeneID:5154"
                     /db_xref="HGNC:HGNC:8799"
                     /db_xref="MIM:173430"
ORIGIN      
        1 mwvegphsda pglgswagar gsrqetgwsa rpaaspllra asasgrdedl glpaaprlri
       61 prpcsgrgsr dpprgdreag pqsdpqhpgp patpgdrlrs edsldtslra hgvhatkhvp
      121 ekrplpirrk rsieeavpav cktrtviyei prsqvdptsa nfliwppcve vkrctgccnt
      181 ssvkcqpsrv hhrsvkvakv eyvrkkpklk evqvrleehl ecacattsln pdyreedtgr
      241 presgkkrkr krlkpt
//
LOCUS       XP_054215051             537 aa            linear   PRI 20-MAR-2023
DEFINITION  caldesmon isoform X14 [Homo sapiens].
ACCESSION   XP_054215051
VERSION     XP_054215051.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359076.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..537
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..537
                     /product="caldesmon isoform X14"
                     /calculated_mol_wt=62445
     CDS             1..537
                     /gene="CALD1"
                     /gene_synonym="CDM; H-CAD; h-CD; HCAD; L-CAD; LCAD; NAG22"
                     /coded_by="XM_054359076.1:246..1859"
                     /db_xref="GeneID:800"
                     /db_xref="HGNC:HGNC:1441"
                     /db_xref="MIM:114213"
ORIGIN      
        1 mddferrrel rrqkreemrl eaeriayqrn dddeeeaare rrrrarqerl rqkqeeeslg
       61 qvtdqvevna qnsvpdeeak ttttntqveg ddeaaflerl arreerrqkr lqealerqke
      121 fdptitdasl slpsrrmqnd taenetteke eksesrqery eieetetvtk syqkndwrda
      181 eenkkedkek eeeeeekpkr gsigenqikd ekikkdkepk eevksfmdrk kgftevksqn
      241 gefmthklkh tentfsrpgg rasvdtkeae gapqveagkr leelrrrrge teseefeklk
      301 qkqqeaalel eelkkkreer rkvleeeeqr rkqeeadrkl reeeekrrlk eeierrraea
      361 aekrqkmped glsddkkpfk cftpkgsslk ieeraeflnk svqksgvkst hqaaivskid
      421 srleqytsai egtksakptk paasdlpvpa egvrniksmw ekgnvfsspt aagtpnketa
      481 glkvgvssri newltktpdg nkspapkpsd lrpgdvsskr nlwekqsvdk vtsptkv
//
LOCUS       XP_054215406             727 aa            linear   PRI 20-MAR-2023
DEFINITION  engulfment and cell motility protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054215406
VERSION     XP_054215406.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359431.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..727
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..727
                     /product="engulfment and cell motility protein 1 isoform
                     X1"
                     /calculated_mol_wt=83699
     CDS             1..727
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /coded_by="XM_054359431.1:1120..3303"
                     /db_xref="GeneID:9844"
                     /db_xref="HGNC:HGNC:16286"
                     /db_xref="MIM:606420"
ORIGIN      
        1 mpppadivkv aiewpgaypk lmeidqkkpl saiikevcdg wslanheyfa lqhadssnfy
       61 iteknrneik ngtilrltts paqnaqqlhe riqsssmdak lealkdlasl srdvtfaqef
      121 inldgisllt qmvesgtery qklqkimkpc fgdmlsftlt afvelmdhgi vswdtfsvaf
      181 ikkiasfvnk saidisilqr slailesmvl nshdlyqkva qeitigqlip hlqgsdqeiq
      241 tytiavinal flkapderrq emanilaqkq lrsiilthvi raqrainnem ahqlyvlqvl
      301 tfnlledrmm tkmdpqdqaq rdiifelrri afdaesepnn ssgsmekrks mytrdykklg
      361 finhvnpamd ftqtppgmla ldnmlyfakh hqdayirivl enssredkhe cpfgrssiel
      421 tkmlceilkv gelpsetcnd fhpmffthdr sfeeffcici qllnktwkem ratsedfnkv
      481 mqvvkeqvmr alttkpssld qfksklqnls yteilkirqs ermnqedfqs rpilelkeki
      541 qpeilelikq qrlnrlvegt cfrklnarrr qdkfwycrls pnhkvlhygd leespqgevp
      601 hdslqdklpv adikavvtgk dcphmkekga lkqnkevlel afsilydsnc qlnfiapdkh
      661 eyciwtdgln allgkdmmsd ltrndldtll smeiklrlld leniqipdap ppipkepsny
      721 dfvydcn
//
LOCUS       XP_047300906             182 aa            linear   PRI 20-MAR-2023
DEFINITION  putative uncharacterized protein FLJ44672 [Homo sapiens].
ACCESSION   XP_047300906
VERSION     XP_047300906.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047444950.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..182
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..182
                     /product="putative uncharacterized protein FLJ44672"
                     /calculated_mol_wt=18461
     CDS             1..182
                     /gene="LOC124906588"
                     /coded_by="XM_047444950.1:125..673"
                     /db_xref="GeneID:124906588"
ORIGIN      
        1 mpllaspgpa pacwrpleaq plpqqwalha hllprrgllg pgsrlgaapa gpapasrpsg
       61 gqahasgrpl pawrlllcmg sksctsssrs lqaqlflpaa sagpdcrqvg lsrdssclpa
      121 dsagpsrpqv slprpssgls aaspgakvpr vrlsrssssc lpvasfspaq lmppgglprp
      181 rf
//
LOCUS       XP_054216674             517 aa            linear   PRI 20-MAR-2023
DEFINITION  gamma-1-syntrophin isoform X1 [Homo sapiens].
ACCESSION   XP_054216674
VERSION     XP_054216674.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360699.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..517
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..517
                     /product="gamma-1-syntrophin isoform X1"
                     /calculated_mol_wt=57838
     CDS             1..517
                     /gene="SNTG1"
                     /gene_synonym="G1SYN; SYN4"
                     /coded_by="XM_054360699.1:3603..5156"
                     /db_xref="GeneID:54212"
                     /db_xref="HGNC:HGNC:13740"
                     /db_xref="MIM:608714"
ORIGIN      
        1 mdfrtaceet ktgicllqdg nqepfkvrlh lakdilmiqe qdvicvsgep fysgertvti
       61 rrqtvggfgl sikggaehni pvvvskiske qraelsgllf igdailqing invrkcrhee
      121 vvqvlrnage evtltvsflk rapaflklpl nedcacapsd qssgtssplc dsglhlnyhp
      181 nntdtlscss wptspglrwe krwcdlrlip llhsrfsqyv pgtdlsrqna fqviavdgvc
      241 tgiiqclsae dcvdwlqaia tnisnltkhn ikkinrnfpv nqqivymgwc eareqdplqd
      301 rvysptflal rgsclykfla ppvttwdwtr aektfsvyei mckilkdsdl ldrrkqcftv
      361 qsesgedlyf svelesdlaq werafqtatf leveriqckt yacvleshlm gltidfstgf
      421 icfdaatkav lwrykfsqlk gssddgkski kflfqnpdtk qieakelefs nlfavlhcih
      481 sffaakvacl dplflgnqat astaassatt skakytt
//
LOCUS       XP_054217308            1021 aa            linear   PRI 20-MAR-2023
DEFINITION  trafficking protein particle complex subunit 9 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054217308
VERSION     XP_054217308.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361333.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1021
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1021
                     /product="trafficking protein particle complex subunit 9
                     isoform X6"
                     /calculated_mol_wt=114416
     CDS             1..1021
                     /gene="TRAPPC9"
                     /gene_synonym="IBP; IKBKBBP; MRT13; NIBP; T1; TRS120"
                     /coded_by="XM_054361333.1:117..3182"
                     /db_xref="GeneID:83696"
                     /db_xref="HGNC:HGNC:30832"
                     /db_xref="MIM:611966"
ORIGIN      
        1 msvpdymqca edhqtllvvv qpvgivseen ffriykrics vsqisvrdsq rvlyiryrhh
       61 yppennewgd fqthrkvvgl ititdcfsak dwpqtfekfh vqkeiygstl ydsrlfvfgl
      121 qgeiveqprt dvafypnyed cqtvekried fieslfivle skrldratdk sgdkipllcv
      181 pfekkdfvgl dtdsrhykkr cqgrmrkhvg dlclqagmlq dslvhyhmsv ellrsvndfl
      241 wlgaaleglc sasviyhypg gtggksgarr fqgstlpaea anrhrpgalt tnginpdtst
      301 eigrakncls pediidkyke aisyyskykn agvieleaci kavrvlaiqk rsmeaseflq
      361 navyinlrql seeekiqrys ilselyelig fhrksaffkr vaamqcvaps iaepgwracy
      421 kllletlpgy slsldpkdfs rgthrgwaav qmrllhelvy asrrmgnpal svrhlsfllq
      481 tmldflsdqe kkdvaqslen ytskcpgtme pialpggltl ppvpftklpi vrhvkllnlp
      541 aslrphkmks llgqnvstks pfiyspiiah nrgeernkki dfqwvqgdvc evqlmvynpm
      601 pfelrvenmg lltsgvefes lpaalslpae sglypvtlvg vpqttgtitv ngyhttvfgv
      661 fsdclldnlp giktsgstve vipalprlqi stslprsahs lqpssgdeis tnvsvqlyng
      721 esqqliikle nigmeplekl evtskvlttk eklygdflsw kleetlaqfp lqpgkvatft
      781 inikvkldfs cqenllqdls ddgisvsgfp lsspfrqvvr prvegkpvnp pesnkagdys
      841 hvktleavln fkysggpght egyyrnlslg lhvevepsvf ftrvstlpat strqchllld
      901 vfnstehelt vstrsseali lhagecqrma iqvdkfnfes fpespgekgq fanpkqleee
      961 rreargleih sklgicwrip slkrsgeasv egllnqlvle hlqlaplqwg gqlstpvtvq
     1021 t
//
LOCUS       XP_047301193             629 aa            linear   PRI 20-MAR-2023
DEFINITION  putative exonuclease GOR [Homo sapiens].
ACCESSION   XP_047301193
VERSION     XP_047301193.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047445237.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 23% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..629
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..629
                     /product="putative exonuclease GOR"
                     /calculated_mol_wt=68940
     Region          235..355
                     /region_name="EloA-BP1"
                     /note="ElonginA binding-protein 1; pfam15870"
                     /db_xref="CDD:434984"
     Region          456..605
                     /region_name="REX1_like"
                     /note="DEDDh 3'-5' exonuclease domain of RNA exonuclease
                     1, -3 and similar eukaryotic proteins; cd06145"
                     /db_xref="CDD:99848"
     Site            order(459..462,464,537..538,540..542,591,596)
                     /site_type="active"
                     /db_xref="CDD:99848"
     Site            order(459..462,464,537..538,540..541,591,596)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:99848"
     Site            order(459,461,542,591,596)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:99848"
     CDS             1..629
                     /gene="LOC124906711"
                     /coded_by="XM_047445237.1:1..1890"
                     /db_xref="GeneID:124906711"
ORIGIN      
        1 mlratapcwf ppgypeakkv akeaapeasr hlgaeqspag apegskmlra tapcwfrpgy
       61 peakkvaeea aleapefplp shqpaqsfgl wvpqmhkqas afvdiqaepq nrgpavppaw
      121 pkmvtescyf paqrgsacrl paaprlterp sgvrisaprk rkaiahsssp clvtgytdak
      181 rtrvasssqr srgskvgrqp gktrnrsgma ckttattssk rivrrpslps lslkkpiilr
      241 ssgcqvptvl rrgylqlfte eclkfcaskq eaeekalnee kvaydcspnk nrylnvvlnt
      301 lkrlkgltps smpglsraal ysrlqefllt qdqlkengyp fphperpgga vlftgqgkgp
      361 gdsscrvccr cgteylvsss grcvrdqlcy yhwgrvrssq vaggrvsqyt ccaaapgsvg
      421 cqvakqhvrd grkesldgfv etfkkelsrd aypgiyaldc emcytthgle ltrvtvvdad
      481 mrvvydtfvk pdneivdynt rfsgvteadv aktsitlpqv qaillsffsa qtilighsle
      541 sdllalklih stvvdtavlf phylgfpykr slrnlaadyl aqiiqdsqdg hnssedanac
      601 lqlvmwkvrq raqiqprhrs aspaalacp
//
LOCUS       XP_047301396            1001 aa            linear   PRI 20-MAR-2023
DEFINITION  endoplasmic reticulum mannosyl-oligosaccharide
            1,2-alpha-mannosidase isoform X5 [Homo sapiens].
ACCESSION   XP_047301396
VERSION     XP_047301396.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047445440.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1001
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1001
                     /product="endoplasmic reticulum mannosyl-oligosaccharide
                     1,2-alpha-mannosidase isoform X5"
                     /calculated_mol_wt=109998
     CDS             1..1001
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /coded_by="XM_047445440.1:303..3308"
                     /db_xref="GeneID:11253"
                     /db_xref="HGNC:HGNC:6823"
                     /db_xref="MIM:604346"
ORIGIN      
        1 mllqacrsvv lhtltllqac rsvvhtfmll qacrsvvlhs cccrhagrwc ythsrfcrra
       61 grwcyihava gmqvggvtdi naaagvqvgg thihavagvq vggvtftllq acrlvlhtlt
      121 lagvrvggvt hihavagvqv ggvtftllqa crsvvhmllq acrsvvlhtf tllqtcrsvl
      181 lhtllqacrs vvlhshlqvc rsvllhthav agvqvggvtf tllqvcrsvv lhtftllqac
      241 rsvvvhtfml lqeyrsvvlh shccrragrw lhshccrrag wcyihtcrra grwcythscc
      301 crragrwlhs hccrragwcy thsqlqacrs vvlhthtvag vqvggvthml lqacrsvvlh
      361 tftvagvqvg gvthsrccrr agrwcyihav advqvsavth avagvqvggv tftllqacrs
      421 vvlhtfmllq acrsvlhtft llqacrsvvl hsrccrcagr ccyihavasv qvggvtftll
      481 lacrsvvlht ftllqtcrsv llhtfmllqa crsvvlhshl qacrsvvlht fmllqacrsv
      541 vlhtfmvlqa crsvvlhscc crragqwcyt hsrccrragr wcythsrfcr ragrwsyiht
      601 vagvqvggvt ftllqacrlv lhtftlagvq vggvthmllq acrsvvlhsh ccrragrwyt
      661 hshccrragr wcythswccr ragrcytrav agvqvggtfm llqacrsvvl hiftllqtcr
      721 svvlhscccr ragrwcyiha gagmqvggvt hnavagvqvs gthihaiagv qaggvtftll
      781 qacrlvlhtf tlagvrvggv thihavagvq vgvthihtcr ragrwcyths hccrragpwc
      841 ythavagvqv ggvtftllqv crlvlhtftl lqacrsvvlh tftlagvqvs gvthihavag
      901 mqvgsvthsc ccrragrwcc tfmllqacrs vvlhsrccrs tsqwcythsc ccaaitsisr
      961 alfilklkls hhtvtlhvpp qslkntvqvf lpgphcvefl v
//
LOCUS       XP_054218053             517 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 39B isoform X4 [Homo sapiens].
ACCESSION   XP_054218053
VERSION     XP_054218053.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362078.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..517
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..517
                     /product="tetratricopeptide repeat protein 39B isoform X4"
                     /calculated_mol_wt=59320
     CDS             1..517
                     /gene="TTC39B"
                     /gene_synonym="C9orf52"
                     /coded_by="XM_054362078.1:145..1698"
                     /db_xref="GeneID:158219"
                     /db_xref="HGNC:HGNC:23704"
                     /db_xref="MIM:613574"
ORIGIN      
        1 myhalgysti vvlqavltfe qqdiqngisa mkdalqtcqk yrkkytvves fssllsrgsl
       61 eqlseeemha eicyaecllq kaaltfvqde nminfikggl kirtsyqiyk eclsilheiq
      121 knklqqeffy efeggvklgs gafnlmlsll pariirllef igfsgnrelg llqlregasg
      181 rsmrsalccl tilafhtyis lilgtgevnv aeaerllapf lqqfpngslv lfyhariell
      241 kgnleeaqev fqkcvsvqee wkqfhhlcyw elmwinvfqq nwmqayyysd llckeskwsk
      301 atyvflkaai lsmlpeedvv atnenvvtlf rqvdslkqri agksiptekf avrkarrysa
      361 slpapvklil palemmyvwn gfsivskrkd lsenllvtve kaeaalqsqn fnsfsvddec
      421 lvkllkgccl knlqrplqae lcynhvvese kllkydhylv pftlfelasl yksqgeidka
      481 ikfletarnn ykdyslesrl hfriqaalhl wrkpssd
//
LOCUS       XP_054218713             181 aa            linear   PRI 20-MAR-2023
DEFINITION  osteoclast-stimulating factor 1 isoform X4 [Homo sapiens].
ACCESSION   XP_054218713
VERSION     XP_054218713.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362738.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..181
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..181
                     /product="osteoclast-stimulating factor 1 isoform X4"
                     /calculated_mol_wt=20109
     CDS             1..181
                     /gene="OSTF1"
                     /gene_synonym="bA235O14.1; OSF; SH3P2"
                     /coded_by="XM_054362738.1:180..725"
                     /db_xref="GeneID:26578"
                     /db_xref="HGNC:HGNC:8510"
                     /db_xref="MIM:610180"
ORIGIN      
        1 mskpppkpvk pgqvkvfral ytfeprtpde lyfeegdiiy itdmsdtnww kgtskgrtgl
       61 ipsnyvaeqa esidnplhea akrgnlswlr ecldnrvgvn gldkagstal ywachgghkd
      121 ivemlftqpn ielnqqnklg dtalhaaawk gyadivqlll akdavrtlsn aedylddeds
      181 d
//
LOCUS       XP_054219209             468 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 2A isoform X2 [Homo sapiens].
ACCESSION   XP_054219209
VERSION     XP_054219209.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363234.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..468
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..468
                     /product="TBC1 domain family member 2A isoform X2"
                     /calculated_mol_wt=54288
     CDS             1..468
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /coded_by="XM_054363234.1:298..1704"
                     /db_xref="GeneID:55357"
                     /db_xref="HGNC:HGNC:18026"
                     /db_xref="MIM:609871"
ORIGIN      
        1 meayrtqncf lnseihqvtk iwrkvaekek alltkcaylq arncqvesky laglrrlqea
       61 lgdeasecse llrqlvqeal qweageassd sielspisky deygfltvpd yevedlklla
      121 kiqalesrsh hllgleavdr plrerwaalg dlvpsaelkq llragvpreh rprvwrwlvh
      181 lrvqhlhtpg cyqellsrgq arehpaarqi eldlnrtfpn nkhftcptss fpdklrrvll
      241 afswqnptig ycqglnrlaa iallvleeee safwclvaiv etimpadyyc ntltasqvdq
      301 rvlqdllsek lprlmahlgq hhvdlslvtf nwflvvfads lisnillrvw daflyegtkv
      361 vfryalaifk ynekeilrlq ngleiyqylr fftktisnsr klmniafndm npfrmkqlrq
      421 lrmvhrerle aelreleqlk aeylerrasr rravsegcas edevegea
//
LOCUS       XP_054219320             776 aa            linear   PRI 20-MAR-2023
DEFINITION  non-lysosomal glucosylceramidase isoform X9 [Homo sapiens].
ACCESSION   XP_054219320
VERSION     XP_054219320.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363345.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..776
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..776
                     /product="non-lysosomal glucosylceramidase isoform X9"
                     /calculated_mol_wt=85707
     CDS             1..776
                     /gene="GBA2"
                     /gene_synonym="AD035; NLGase; SPG46"
                     /coded_by="XM_054363345.1:92..2422"
                     /db_xref="GeneID:57704"
                     /db_xref="HGNC:HGNC:18986"
                     /db_xref="MIM:609471"
ORIGIN      
        1 mvvpwvasge allpvageas svvgsltlec istgqssltn sqcacvgkgr lctskscpws
       61 aqvssaagtg acvgtllstm psipepglsi sflarmspsp avrshpscpm ttsslpvgvf
      121 vwdvenegde aldvsimfsm rnglgggdda pgglwnepfc lersgetvrg lllhhptlpn
      181 pytmavaarv taattvthit afdpdstgqq vwqdllqdgq ldsptgqstp tqkgvgiaga
      241 vcvssklrpr gqcrlefsla wdmprimfga kgqvhyrryt rffgqdgdaa palshyalcr
      301 yaeweerisa wqspvlddrs lpawyksalf nelyfladgg tvwlevleds lpeelgrnmc
      361 hlrptlrdyg rfgylegqey rmyntydvhf yasfalimlw pklelslqyd malatlredl
      421 trrrylmsgv mapvkrrnvi phdigdpdde pwlrvnayli hdtadwkdln lkfvlqvyrd
      481 yyltgdqnfl kdmwpvclav mesemkfdkd hdglienggy adqtydgwvt tgpsaycggl
      541 wlaavavmvq maalcgaqdi qdkfssilsr gqeayerllw ngryynydss srpqsrsvms
      601 dqcagqwflk acglgegdte vfptqhvvra lqtifelnvq afaggamgav ngmqphgvpd
      661 kssvqsdevw vgvvyglaat miqegltweg fqtaegcyrt vwerlglafq tpeaycqqrv
      721 frslaymrpl siwamqlalq qqqhkkaswp kvkqgtglrt gpmfgpkeam anlspe
//
LOCUS       XP_054182322            2765 aa            linear   PRI 20-MAR-2023
DEFINITION  teneurin-1 isoform X1 [Homo sapiens].
ACCESSION   XP_054182322
VERSION     XP_054182322.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326347.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2765
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2765
                     /product="teneurin-1 isoform X1"
                     /calculated_mol_wt=309521
     CDS             1..2765
                     /gene="TENM1"
                     /gene_synonym="ODZ1; ODZ3; ten-1; TEN-M1; TEN1; TNM; TNM1"
                     /coded_by="XM_054326347.1:771..9068"
                     /db_xref="GeneID:10178"
                     /db_xref="HGNC:HGNC:8117"
                     /db_xref="MIM:300588"
ORIGIN      
        1 meqtdckpyq plpkvkhemd laytsssdes edgrkprqsy nsretlheyn qelrmnynsq
       61 srkrkeveks tqemefcets htlcsgyqtd mhsvsrhgyq lemgsdvdte tegaaspdha
      121 lrmwirgmks ehssclssra nsalsltdtd herksdgeng fkfspvccdm eaqagstqdv
      181 qssphnqftf rplppppppp hactcarkpp paadslqrrs mttrsqpspa apapptstqd
      241 svhlhnswvl nsnipletrh flfkhgsgss aifsaasqny pltsntvysp pprplprstf
      301 srpaftfnkp yrccnwkcta lsataitvtl alllayviav hlfgltwqlq pvegelyang
      361 vskgnrgtes mdttyspigg kvsdksekkv fqkgraidtg evdigaqvmq tippglfwrf
      421 qitihhpiyl kfnislakds llgiygrrni ppthtqfdfv klmdgkqlvk qdskgsddtq
      481 hsprnlilts lqetgfieym dqgpwylafy ndgkkmeqvf vlttaieimd dcstncngng
      541 ecisghchcf pgflgpdcar dscpvlcggn geyekghcvc rhgwkgpecd vpeeqcidpt
      601 cfghgtcimg vcicvpgykg eiceeedcld pmcsnhgicv kgechcstgw ggvncetplp
      661 vcqeqcsghg tflldagvcs cdpkwtgsdc stelctmecg shgvcsrgic qceegwvgpt
      721 ceerschshc tehgqckdgk cecspgwegd hctiahylda vrdgcpglcf gngrctldqn
      781 gwhcvcqvgw sgtgcnvvme mlcgdnldnd gdgltdcvdp dccqqsncyi splcqgspdp
      841 ldliqqsqtl fsqhtsrlfy drikfligkd sthvippevs fdsrracvir gqvvaidgtp
      901 lvgvnvsflh hsdygftisr qdgsfdlvai ggisvilifd rspflpekrt lwlpwnqfiv
      961 vekvtmqrvv sdppscdisn fispnpivlp spltsfggsc pergtivpel qvvqeeipip
     1021 ssfvrlsyls srtpgyktll rillthstip vgmikvhltv avegrltqkw fpaainlvyt
     1081 fawnktdiyg qkvwglaeal vsvgyeyetc pdfilweqrt vvlqgfemda snlggwslnk
     1141 hhilnpqsgi ihkgngenmf isqqppvist imgnghqrsv actncngpah nnklfapval
     1201 asgpdgsvyv gdfnfvrrif psgnsvsile lrnrdtrhst spahkyylam dpvseslyls
     1261 dtntrkvykl kslvetkdls knfevvagtg dqclpfdqsh cgdggrasea slnsprddss
     1321 prrsvivlmv dngllppehv tgdllkgqyr itvdrhgfiy fvdgtmirki denavittvi
     1381 gsngltstqp lscdsgmdit qvrlewptdl avnpmdnsly vldnnivlqi senrrvriia
     1441 grpihcqvpg idhflvskva ihstlesara isvshsgllf iaetderkvn riqqvttnge
     1501 iyiiagaptd cdckidpncd cfsgdggyak dakmkapssl avspdgtlyv adlgnvrirt
     1561 isrnqahlnd mniyeiaspa dqelyqftvn gthlhtlnli trdyvynfty nsegdlgait
     1621 ssngnsvhir rdaggmplwl vvpggqvywl tissngvlkr vsaqgynlal mtypgntgll
     1681 atksnengwt tvyeydpegh ltnatfptge vssfhsdlek ltkveldtsn renvlmstnl
     1741 tatstiyilk qentqstyrv npdgslrvtf asgmeiglss ephilagavn ptlgkcnisl
     1801 pgehnanlie wrqrkeqnkg nvsaferrlr ahnrnllsid fdhitrtgki yddhrkftlr
     1861 ilydqtgrpi lwspvsryne vnityspsgl vtfiqrgtwn ekmeydqsgk iisrtwadgk
     1921 iwsytyleks vmlllhsqrr yifeydqpdc llsvtmpsmv rhslqtmlsv gyyrniytpp
     1981 dsstsfiqdy srdgrllqtl hlgtgrrvly kytkqarlse vlydttqvtl tyeessgvik
     2041 tihlmhdgfi ctiryrqtgp ligrqifrfs eeglvnarfd ysynnfrvts mqavinetpl
     2101 pidlyryvdv sgrteqfgkf svinydlnqv itttvmkhtk ifsangqvie vqyeilkaia
     2161 ywmtiqydnv grmvicdirv gvdanitryf yeydadgqlq tvsvndktqw rysydlngni
     2221 nllshgksar ltplrydlrd ritrlgeiqy kmdedgflrq rgndifeyns ngllqkaynk
     2281 asgwtvqyyy dglgrrvask sslgqhlqff yadltnpirv thlynhtsse itslyydlqg
     2341 hliamelssg eeyyvacdnt gtplavfssr gqvikeilyt pygdiyhdty pdfqviigfh
     2401 gglydfltkl vhlgqrdydv vagrwttpnh hiwkqlnllp kpfnlysfen nypvgkiqdv
     2461 akyttdirsw lelfgfqlhn vlpgfpkpel enleltyell rlqtktqewd pgktilgiqc
     2521 elqkqlrnfi sldqlpmtpr yndgrclegg kqprfaavps vfgkgikfai kdgivtadii
     2581 gvanedsrrl aailnnahyl enlhftiegr dthyfiklgs leedlvlign tggrrileng
     2641 vnvtvsqmts vlngrtrrfa diqlqhgalc fnirygttve eeknhvleia rqravaqawt
     2701 keqrrlqege egirawtege kqqllstgrv qgydgyfvls veqylelsds annihfmrqs
     2761 eigrr
//
LOCUS       XP_054182711             335 aa            linear   PRI 20-MAR-2023
DEFINITION  putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase
            isoform X2 [Homo sapiens].
ACCESSION   XP_054182711
VERSION     XP_054182711.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326736.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..335
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..335
                     /product="putative tRNA
                     (cytidine(32)/guanosine(34)-2'-O)-methyltransferase
                     isoform X2"
                     /calculated_mol_wt=36591
     CDS             1..335
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /coded_by="XM_054326736.1:286..1293"
                     /db_xref="GeneID:24140"
                     /db_xref="HGNC:HGNC:13254"
                     /db_xref="MIM:300499"
ORIGIN      
        1 mgrtskdkrd vyyrlakeng wrarsafkll qldkefqlfq gvtravdlca apgswsqvls
       61 qkiggqgsgh vvavdlqama plpgvvqiqg ditqlstake iiqhfkgcpa dlvvcdgapd
      121 vtglhdvdey mqaqlllaal niathvlkpg gcfvakifrg rdvtllysql qvffssvlca
      181 kprssrnssi eafavcqgyd ppegfipdls kplldhsydf nqldgptrii vpfvtcgdls
      241 sydsdrsypl dleggseyky tpptqppisp pyqeactlkr kgqlakeirp qdcpisrvdt
      301 fpqplaapqc htllapevwk cdsqpaltps pcaff
//
LOCUS       XP_054183606            1885 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription initiation factor TFIID subunit 1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054183606
VERSION     XP_054183606.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327631.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1885
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1885
                     /product="transcription initiation factor TFIID subunit 1
                     isoform X4"
                     /calculated_mol_wt=214309
     CDS             1..1885
                     /gene="TAF1"
                     /gene_synonym="BA2R; CCG1; CCGS; DYT3; DYT3/TAF1; KAT4;
                     MRXS33; N-TAF1; NSCL2; OF; P250; TAF(II)250; TAF2A;
                     TAFII-250; TAFII250; XDP"
                     /coded_by="XM_054327631.1:19..5676"
                     /db_xref="GeneID:6872"
                     /db_xref="HGNC:HGNC:11535"
                     /db_xref="MIM:313650"
ORIGIN      
        1 msdtdsdeds agggpfslag flfgningag qlegesvldd eckkhlaglg alglgslite
       61 ltaneeltgt dgalvndegw vrstedavdy sdinevaede srryqqtmgs lqplchsdyd
      121 eddydadced idcklmpppp pppgpmkkdk dqdsitgekv dfssssdses emgpqeatqa
      181 esedgkltlp lagimqhdat kllpsvtelf pefrpgkvlr flrlfgpgkn vpsvwrsarr
      241 krkkkhreli qeeqiqevec svesevsqks lwnydyappp ppeqclsdde itmmapvesk
      301 fsqstgdidk vtdtkprvae wrygparlwy dmlgvpedgs gfdygfklrk tehepviksr
      361 mieefrklee nngtdllade nflmvtqlhw eddiiwdged vkhkgtkpqr aslagwlpss
      421 mtrnamaynv qqgfaatldd dkpwysifpi dnedlvygrw edniiwdaqa mprlleppvl
      481 tldpndenli leipdekeea tsnspskesk kesslkksri llgktgvike epqqnmsqpe
      541 vkdpwnlsnd eyyypkqqgl rgtfggniiq hsipavelrq pffpthmgpi klrqfhrppl
      601 kkysfgalsq pgphsvqpll khikkkakmr eqerqasggg emffmrtpqd ltgkdgdlil
      661 aeyseengpl mmqvgmatki knyykrkpgk dpgapdckyg etvychtspf lgslhpgqll
      721 qafennlfra piylhkmpet dfliirtrqg yyirelvdif vvgqqcplfe vpgpnskran
      781 thirdflqvf iyrlfwkskd rprrirmedi kkafpshses sirkrlklca dfkrtgmdsn
      841 wwvlksdfrl pteeeiramv speqccayys miaaeqrlkd agygeksffa peeeneedfq
      901 mkiddevrta pwnttrafia amkgkcllev tgvadptgcg egfsyvkipn kptqqkddke
      961 pqpvkktvtg tdadlrrlsl knakqllrkf gvpeeeikkl srwevidvvr tmsteqarsg
     1021 egpmskfarg srfsvaehqe rykeecqrif dlqnkvlsst evlstdtdss saedsdfeem
     1081 gknienmlqn kktssqlsre reeqerkelq rmllagsaas gnnhrdddta svtslnssat
     1141 grclkiyrtf rdeegkeyvr cetvrkpavi dayvrirttk deefirkfal fdeqhreemr
     1201 kerrriqeql rrlkrnqeke klkgppekkp kkmkerpdlk lkcgacgaig hmrtnkfcpl
     1261 yyqtnappsn pvamteeqee elektvihnd neelikvegt kivlgkqlie sadevrrksl
     1321 vlkfpkqqlp pkkkrrvgtt vhcdylnrph ksihrrrtdp mvtlssiles iindmrdlpn
     1381 typfhtpvna kvvkdyykii trpmdlqtlr envrkrlyps reefrehlel ivknsatyng
     1441 pkhsltqisq smldlcdekl kekedklarl ekainplldd ddqvafsfil dnivtqkmma
     1501 vpdswpfhhp vnkkfvpdyy kvivnpmdle tirkniskhk yqsresfldd vnlilansvk
     1561 yngpesqytk taqeivnvcy qtlteydehl tqlekdicta keaaleeael esldpmtpgp
     1621 ytpqppdlyd tntslsmsrd asvfqdesnm svldipsatp ekqvtqmrqg rgrlgeedsd
     1681 vdiegyddee edgkpktpap egedgdgdla deeegtvqqp qasvlyedll msegeddeed
     1741 agsdeegdnp fsaiqlsesg sdsdvgsggi rpkqprmlqe ntrmdmenee smmsyegdgg
     1801 eashgledsn isygsyeepd pksntqdtsf ssiggyevse eeedeeeeeq rsgpsvlsqv
     1861 hlsedeedse dfhsiagdsd ldsde
//
LOCUS       XP_054183962             845 aa            linear   PRI 20-MAR-2023
DEFINITION  SLIT and NTRK-like protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054183962
VERSION     XP_054183962.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327987.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..845
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..845
                     /product="SLIT and NTRK-like protein 2 isoform X1"
                     /calculated_mol_wt=95274
     CDS             1..845
                     /gene="SLITRK2"
                     /gene_synonym="CXorf1; CXorf2; SLITL1; TMEM257"
                     /coded_by="XM_054327987.1:1835..4372"
                     /db_xref="GeneID:84631"
                     /db_xref="HGNC:HGNC:13449"
                     /db_xref="MIM:300561"
ORIGIN      
        1 mlsgvwflsv ltvagilqte srktakdick irclceeken vlnincenkg fttvsllqpp
       61 qyriyqlfln gnlltrlypn efvnysnavt lhlgnnglqe irtgafsglk tlkrlhlnnn
      121 kleilredtf lglesleylq adynyisaie agafsklnkl kvlilndnll lslpsnvfrf
      181 vllthldlrg nrlkvmpfag vlehiggime iqleenpwnc tcdllplkaw ldtitvfvge
      241 ivcetpfrlh gkdvtqltrq dlcprksasd ssqrgshadt hvqrlsptmn palnptrapk
      301 asrppkmrnr ptprvtvskd rqsfgpimvy qtkspvpltc psscvctsqs sdnglnvncq
      361 erkftnisdl qpkptspkkl yltgnylqtv ykndlleyss ldllhlgnnr iaviqegaft
      421 nltslrrlyl ngnylevlyp smfdglqslq ylyleynvik eikpltfdal inlqllflnn
      481 nllrslpdni fggtaltrln lrnnhfshlp vkgvldqlpa fiqidlqenp wdctcdimgl
      541 kdwtehansp viinevtces pakhageilk flgreaicpd spnlsdgtvl smnhntdtpr
      601 slsvspssyp elhtevplsv lilgllvvfi lsvcfgaglf vfvlkrrkgv psvprntnnl
      661 dvssfqlqyg syntethdkt dghvynyipp pvgqmcqnpi ymqkegdpva yyrnlqefsy
      721 snleekkeep atpaytisat ellekqatpr epellyqnia ervkelpsag lvhynfctlp
      781 krqfapsyes rrqnqdrink tvlygtprkc fvgqskpnhp llqakpqsep dylevlekqt
      841 aisql
//
LOCUS       XP_054184311            1560 aa            linear   PRI 20-MAR-2023
DEFINITION  histone demethylase UTY isoform X4 [Homo sapiens].
ACCESSION   XP_054184311
VERSION     XP_054184311.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328336.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060948) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1560
                     /organism="Homo sapiens"
                     /isolate="NA24385"
                     /bio_material="CORIELL:NA24385"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /sex="male"
                     /tissue_type="B-Lymphocyte"
     Protein         1..1560
                     /product="histone demethylase UTY isoform X4"
                     /calculated_mol_wt=173065
     CDS             1..1560
                     /gene="UTY"
                     /gene_synonym="KDM6AL; KDM6C; UTY1"
                     /coded_by="XM_054328336.1:1006..5688"
                     /db_xref="GeneID:7404"
                     /db_xref="HGNC:HGNC:12638"
                     /db_xref="MIM:400009"
ORIGIN      
        1 mkscavsltt aavafgdeak kmaegkasre seeesvsltv eerealggmd srlfgfvrlh
       61 edgartktll gkavrcyesl ilkaegkves dffcqlghfn llledyskal sayqryyslq
      121 adywknaafl yglglvyfyy nafhwaikaf qdvlyvdpsf crakeihlrl glmfkvntdy
      181 ksslkhfqla lidcnpctls naeiqfhiah lyetqrkyhs akeayeqllq tenlpaqvka
      241 tvlqqlgwmh hnmdlvgdka tkesyaiqyl qksleadpns gqswyflgrc yssigkvqda
      301 fisyrqsidk seasadtwcs igvlyqqqnq pmdalqayic avqldhghaa awmdlgtlye
      361 scnqpqdaik cylnaarskr csntstlaar ikflqaqlcn lpqsslqnkt kllpsieeaw
      421 slpipaelts rqgamntaqq qslslhmits sqveglsspa kkkrtssptk ngsdnwnggq
      481 slshhpvqqv yslcltpqkl qhleqlranr dnlnpaqkhq leqlesqfvl mqqmrhkeva
      541 qvrttgihng aitdsslptn svsnrqphga ltrvssvsqp gvrpacvekl lssgafsagc
      601 ipcgtskilg stdtillgsn ciagsesngn vpylqqntht lphnhtdlns steepwrkql
      661 snsaqglhks qssclsgpne eqplfstgsa qyhqatstgi kkanehltlp snsvpqgdad
      721 shlschtats ggqqgimftk eskpsknrsl vpetsrhtgd tsngcadvkg lsnhvhqlia
      781 davsspnhgd spnlliadnp qlsalligka ngnvgtgtcd kvnnihpavh tktdhsvass
      841 pssaistatp spksteqrsi nsvtslnsph sglhtvngeg lgksqsstkv dlplashrst
      901 sqilpsmsvs icpsstevlk acrnpgkngl snscilldkc ppprpptspy pplpkdklnp
      961 ptpsiylenk rdaffpplhq fctnpknpvt virglagalk ldlglfstkt lveannehmv
     1021 evrtqllqpa denwdptgtk kiwrcesnrs httiakyaqy qassfqeslr eenekrtqhk
     1081 dhsdnestss ensgrrrkgp fktikfgtni dlsdnkkwkl qlheltklpa farvvsagnl
     1141 lthvghtilg mntvqlymkv pgsrtpghqe nnnfcsvnin igpgdcewfv vpedywgvln
     1201 dfceknnlnf lmsswwpnle dlyeanvpvy rfiqrpgdlv winagtvhwv qavgwcnnia
     1261 wnvgpltacq yklaveryew nklksvkspv pmvhlswnma rnikvsdpkl femikycllk
     1321 ilkqyqtlre alvaagkevi whgrtndepa hycsicevev fnllfvtnes ntqktyivhc
     1381 hdcarktsks lenfvvleqy kmedliqvyd qftlaspwpp mdqsaftssl lrpikalgsg
     1441 raeqtsgdql qkgathsras sllraaemtr rpasreelpd pglfchsikl lfvlfsfhls
     1501 tflilpcqrr rtwelldgga escktnrant piahylvsee erravalqrv qtwellepgl
//
LOCUS       NP_004634                306 aa            linear   PRI 21-MAR-2023
DEFINITION  polyadenylate-binding protein 2 isoform 1 [Homo sapiens].
ACCESSION   NP_004634
VERSION     NP_004634.1
DBSOURCE    REFSEQ: accession NM_004643.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 306)
  AUTHORS   Roth F, Dhiab J, Boulinguiez A, Mouigni HR, Lassche S, Negroni E,
            Muraine L, Marhic A, Oliver A, Laine J, Rouche A, O'Ferrall EK, van
            Engelen B, Ottenheijm C, Greif H, Blumen S, Lacau St Guily J, Perie
            S, Butler-Browne G, Mouly V and Trollet C.
  TITLE     Assessment of PABPN1 nuclear inclusions on a large cohort of
            patients and in a human xenograft model of oculopharyngeal muscular
            dystrophy
  JOURNAL   Acta Neuropathol 144 (6), 1157-1170 (2022)
   PUBMED   36197469
  REMARK    GeneRIF: Assessment of PABPN1 nuclear inclusions on a large cohort
            of patients and in a human xenograft model of oculopharyngeal
            muscular dystrophy.
REFERENCE   2  (residues 1 to 306)
  AUTHORS   Zhang L, Wang D, Han X, Guo X, Cao Y, Xia Y and Gao D.
  TITLE     Novel read-through fusion transcript Bcl2l2-Pabpn1 in glioblastoma
            cells
  JOURNAL   J Cell Mol Med 26 (17), 4686-4697 (2022)
   PUBMED   35894779
  REMARK    GeneRIF: Novel read-through fusion transcript Bcl2l2-Pabpn1 in
            glioblastoma cells.
REFERENCE   3  (residues 1 to 306)
  AUTHORS   Ribot C, Soler C, Chartier A, Al Hayek S, Nait-Saidi R, Barbezier
            N, Coux O and Simonelig M.
  TITLE     Activation of the ubiquitin-proteasome system contributes to
            oculopharyngeal muscular dystrophy through muscle atrophy
  JOURNAL   PLoS Genet 18 (1), e1010015 (2022)
   PUBMED   35025870
  REMARK    GeneRIF: Activation of the ubiquitin-proteasome system contributes
            to oculopharyngeal muscular dystrophy through muscle atrophy.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 306)
  AUTHORS   Bergeron D, Pal G, Beaulieu YB, Chabot B and Bachand F.
  TITLE     Regulated Intron Retention and Nuclear Pre-mRNA Decay Contribute to
            PABPN1 Autoregulation
  JOURNAL   Mol Cell Biol 35 (14), 2503-2517 (2015)
   PUBMED   25963658
  REMARK    GeneRIF: Data indicate that intron 6 of the poly(A)-binding protein
            nuclear 1 (PABPN1) gene is required for autoregulation.
REFERENCE   5  (residues 1 to 306)
  AUTHORS   Calado A, Kutay U, Kuhn U, Wahle E and Carmo-Fonseca M.
  TITLE     Deciphering the cellular pathway for transport of poly(A)-binding
            protein II
  JOURNAL   RNA 6 (2), 245-256 (2000)
   PUBMED   10688363
REFERENCE   6  (residues 1 to 306)
  AUTHORS   Chen Z, Li Y and Krug RM.
  TITLE     Influenza A virus NS1 protein targets poly(A)-binding protein II of
            the cellular 3'-end processing machinery
  JOURNAL   EMBO J 18 (8), 2273-2283 (1999)
   PUBMED   10205180
REFERENCE   7  (residues 1 to 306)
  AUTHORS   Mezei MM, Mankodi A, Brais B, Marineau C, Thornton CA, Rouleau GA
            and Karpati G.
  TITLE     Minimal expansion of the GCG repeat in the PABP2 gene does not
            predispose to sporadic inclusion body myositis
  JOURNAL   Neurology 52 (3), 669-670 (1999)
   PUBMED   10025815
REFERENCE   8  (residues 1 to 306)
  AUTHORS   Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM,
            Lafreniere RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD,
            Heutink P, Mathieu J, Duranceau A, Codere F, Fardeau M and Rouleau
            GA.
  TITLE     Short GCG expansions in the PABP2 gene cause oculopharyngeal
            muscular dystrophy
  JOURNAL   Nat Genet 18 (2), 164-167 (1998)
   PUBMED   9462747
  REMARK    Erratum:[Nat Genet 1998 Aug;19(4):404. Korcyn AD [corrected to
            Korczyn AD]]
REFERENCE   9  (residues 1 to 306)
  AUTHORS   Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD,
            Blumen SC, Fardeau M, Tome FM, Bouchard JP et al.
  TITLE     The oculopharyngeal muscular dystrophy locus maps to the region of
            the cardiac alpha and beta myosin heavy chain genes on chromosome
            14q11.2-q13
  JOURNAL   Hum Mol Genet 4 (3), 429-434 (1995)
   PUBMED   7795598
REFERENCE   10 (residues 1 to 306)
  AUTHORS   Trollet,C., Boulinguiez,A., Roth,F., Stojkovic,T.,
            Butler-Browne,G., Evangelista,T., Lacau St Guily,J. and Richard,P.
  TITLE     Oculopharyngeal Muscular Dystrophy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301305
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049829.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes an abundant nuclear protein that binds
            with high affinity to nascent poly(A) tails. The protein is
            required for progressive and efficient polymerization of poly(A)
            tails at the 3' ends of eukaryotic transcripts and controls the
            size of the poly(A) tail to about 250 nt. At steady-state, this
            protein is localized in the nucleus whereas a different poly(A)
            binding protein is localized in the cytoplasm. This gene contains a
            GCG trinucleotide repeat at the 5' end of the coding region, and
            expansion of this repeat from the normal 6 copies to 8-13 copies
            leads to autosomal dominant oculopharyngeal muscular dystrophy
            (OPMD) disease. Related pseudogenes have been identified on
            chromosomes 19 and X. Read-through transcription also exists
            between this gene and the neighboring upstream BCL2-like 2 (BCL2L2)
            gene. [provided by RefSeq, Dec 2010].
            
            Sequence Note:.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR12921934.3276861.1,
                                           SRR14038195.2627285.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216727.9/ ENSP00000216727.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..306
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     Protein         1..306
                     /product="polyadenylate-binding protein 2 isoform 1"
                     /note="poly(A) binding protein 2; poly(A) binding protein
                     II; polyadenylate-binding protein 2"
                     /calculated_mol_wt=32618
     Region          1..115
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86U42.3)"
     Region          2..145
                     /region_name="Interaction with SKIP.
                     /evidence=ECO:0000269|PubMed:11371506"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86U42.3)"
     Region          2..7
                     /region_name="GCG-encoded polyalanine repeat"
                     /note="6A (GCG-encoded) repeat"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            17
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8CCS6; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            19
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            52
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            95
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q86U42.3)"
     Region          113..>289
                     /region_name="RRM"
                     /note="RNA recognition motif (RRM) domain [Translation,
                     ribosomal structure and biogenesis]; COG0724"
                     /db_xref="CDD:223796"
     Region          119..147
                     /region_name="Stimulates PAPOLA. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            150
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Region          155..306
                     /region_name="Necessary for homooligomerization"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86U42.3)"
     Region          173..248
                     /region_name="RRM_II_PABPN1"
                     /note="RNA recognition motif in type II
                     polyadenylate-binding protein 2 (PABP-2) and similar
                     proteins; cd12550"
                     /db_xref="CDD:409966"
     Site            235
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            238
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q28165;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q28165; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            259
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q28165;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            263
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q28165;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            265
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q28165; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            267
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q28165; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            269
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q28165; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            277
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q28165; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            279
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q28165; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Region          286..306
                     /region_name="Interaction with PAPOLA.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            287
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q28165; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            289
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q28165; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            291
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q28165; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            294
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q28165; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            296
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q28165; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     Site            298
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q28165; propagated from
                     UniProtKB/Swiss-Prot (Q86U42.3)"
     CDS             1..306
                     /gene="PABPN1"
                     /gene_synonym="OPMD; PAB2; PABII; PABP-2; PABP2"
                     /coded_by="NM_004643.4:14..934"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9592.1"
                     /db_xref="GeneID:8106"
                     /db_xref="HGNC:HGNC:8565"
                     /db_xref="MIM:602279"
ORIGIN      
        1 maaaaaaaaa agaaggrgsg pgrrrhlvpg aggeagegap ggagdygngl eseelepeel
       61 llepepepep eeepprprap pgapgpgpgs gapgsqeeee epglvegdpg dgaiedpele
      121 aikarvreme eeaeklkelq nevekqmnms pppgnagpvi msieekmead arsiyvgnvd
      181 ygataeelea hfhgcgsvnr vtilcdkfsg hpkgfayief sdkesvrtsl aldeslfrgr
      241 qikvipkrtn rpgisttdrg fpraryrart tnynssrsrf ysgfnsrprg rvyrgrarat
      301 swyspy
//
LOCUS       NP_001371900            1356 aa            linear   PRI 23-MAR-2023
DEFINITION  protein NLRC5 isoform 19 [Homo sapiens].
ACCESSION   NP_001371900
VERSION     NP_001371900.1
DBSOURCE    REFSEQ: accession NM_001384971.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1356)
  AUTHORS   Hao J, Li J, Zhang Z, Yang Y, Zhou Q, Wu T, Chen T, Wu Z, Zhang P,
            Cui J and Li YP.
  TITLE     NLRC5 restricts dengue virus infection by promoting the autophagic
            degradation of viral NS3 through E3 ligase CUL2 (cullin 2)
  JOURNAL   Autophagy 19 (4), 1332-1347 (2023)
   PUBMED   36126167
  REMARK    GeneRIF: NLRC5 restricts dengue virus infection by promoting the
            autophagic degradation of viral NS3 through E3 ligase CUL2 (cullin
            2).
REFERENCE   2  (residues 1 to 1356)
  AUTHORS   Lu ZH, Tu GJ, Fu SL, Shang K, Peng SJ, Chen L and Gu XJ.
  TITLE     BMI1 induces ubiquitination and protein degradation of Nod-like
            receptor family CARD domain containing 5 and suppresses human
            leukocyte antigen class I expression to induce immune escape in
            non-small cell lung cancer
  JOURNAL   Kaohsiung J Med Sci 38 (12), 1190-1202 (2022)
   PUBMED   36194200
  REMARK    GeneRIF: BMI1 induces ubiquitination and protein degradation of
            Nod-like receptor family CARD domain containing 5 and suppresses
            human leukocyte antigen class I expression to induce immune escape
            in non-small cell lung cancer.
REFERENCE   3  (residues 1 to 1356)
  AUTHORS   Szymczak F, Alvelos MI, Marin-Canas S, Castela A, Demine S, Colli
            ML, Op de Beeck A, Thomaidou S, Marselli L, Zaldumbide A, Marchetti
            P and Eizirik DL.
  TITLE     Transcription and splicing regulation by NLRC5 shape the interferon
            response in human pancreatic beta cells
  JOURNAL   Sci Adv 8 (37), eabn5732 (2022)
   PUBMED   36103539
  REMARK    GeneRIF: Transcription and splicing regulation by NLRC5 shape the
            interferon response in human pancreatic beta cells.
REFERENCE   4  (residues 1 to 1356)
  AUTHORS   Dong Y, Xu T, Li D, Guo H, Du X, Li G, Chen J, Wang B, Wang P, Yu
            G, Zhao X and Xue R.
  TITLE     NLR family CARD domain containing 5 promotes hypoxia-induced cancer
            progress and carboplatin resistance by activating PI3K/AKT via
            carcinoembryonic antigen related cell adhesion molecule 1 in
            non-small cell lung cancer
  JOURNAL   Bioengineered 13 (6), 14413-14425 (2022)
   PUBMED   36694434
  REMARK    GeneRIF: NLR family CARD domain containing 5 promotes
            hypoxia-induced cancer progress and carboplatin resistance by
            activating PI3K/AKT via carcinoembryonic antigen related cell
            adhesion molecule 1 in non-small cell lung cancer.
REFERENCE   5  (residues 1 to 1356)
  AUTHORS   Zhu SD, Zhang J, Liu XJ, Zhang JH, Wei B, Wang WY, Fan YJ, Li D,
            Cao YX and Zhan L.
  TITLE     NLRC5 Might Promote Endometrial Cancer Progression by Inducing
            PD-L1 Expression
  JOURNAL   Technol Cancer Res Treat 21, 15330338221112742 (2022)
   PUBMED   35880269
  REMARK    GeneRIF: NLRC5 Might Promote Endometrial Cancer Progression by
            Inducing PD-L1 Expression.
REFERENCE   6  (residues 1 to 1356)
  AUTHORS   Neerincx A, Lautz K, Menning M, Kremmer E, Zigrino P, Hosel M,
            Buning H, Schwarzenbacher R and Kufer TA.
  TITLE     A role for the human nucleotide-binding domain, leucine-rich
            repeat-containing family member NLRC5 in antiviral responses
  JOURNAL   J Biol Chem 285 (34), 26223-26232 (2010)
   PUBMED   20538593
  REMARK    GeneRIF: function for NLRC5 in anti-viral innate immune responses
REFERENCE   7  (residues 1 to 1356)
  AUTHORS   Benko S, Magalhaes JG, Philpott DJ and Girardin SE.
  TITLE     NLRC5 limits the activation of inflammatory pathways
  JOURNAL   J Immunol 185 (3), 1681-1691 (2010)
   PUBMED   20610642
  REMARK    GeneRIF: NLRC5 is identified and characterized as a key regulator
            of proinflammatory pathways in immune cells.
REFERENCE   8  (residues 1 to 1356)
  AUTHORS   Cui J, Zhu L, Xia X, Wang HY, Legras X, Hong J, Ji J, Shen P, Zheng
            S, Chen ZJ and Wang RF.
  TITLE     NLRC5 negatively regulates the NF-kappaB and type I interferon
            signaling pathways
  JOURNAL   Cell 141 (3), 483-496 (2010)
   PUBMED   20434986
  REMARK    GeneRIF: Study identifies NLRC5 as a negative regulator that blocks
            two central components of the NF-kappaB and type I interferon
            signaling pathways and suggest an important role for NLRC5 in
            homeostatic control of innate immunity.
REFERENCE   9  (residues 1 to 1356)
  AUTHORS   Kuenzel S, Till A, Winkler M, Hasler R, Lipinski S, Jung S,
            Grotzinger J, Fickenscher H, Schreiber S and Rosenstiel P.
  TITLE     The nucleotide-binding oligomerization domain-like receptor NLRC5
            is involved in IFN-dependent antiviral immune responses
  JOURNAL   J Immunol 184 (4), 1990-2000 (2010)
   PUBMED   20061403
  REMARK    GeneRIF: NLRC5 may represent a molecular switch of interferon
            (IFN)-gamma activation sequence and IFN-specific response element
            signaling pathways contributing to antiviral defense mechanisms.
REFERENCE   10 (residues 1 to 1356)
  AUTHORS   Dowds TA, Masumoto J, Chen FF, Ogura Y, Inohara N and Nunez G.
  TITLE     Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial
            Mediterranean fever gene product
  JOURNAL   Biochem Biophys Res Commun 302 (3), 575-580 (2003)
   PUBMED   12615073
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC023825.8.
            
            Summary: This gene encodes a member of the caspase recruitment
            domain-containing NLR family. This gene plays a role in cytokine
            response and antiviral immunity through its inhibition of
            NF-kappa-B activation and negative regulation of type I interferon
            signaling pathways. [provided by RefSeq, Oct 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2154529,
                              SAMEA2155628 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1356
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q13"
     Protein         1..1356
                     /product="protein NLRC5 isoform 19"
                     /note="nucleotide-binding oligomerization domains 27;
                     NOD-like receptor C5; nucleotide-binding oligomerization
                     domain, leucine rich repeat and CARD domain containing 5;
                     caterpiller protein 16.1; nucleotide-binding
                     oligomerization domain protein 4"
                     /calculated_mol_wt=148826
     Region          1..95
                     /region_name="Atypical_Card"
                     /note="Atypical caspase recruitment domain; pfam18461"
                     /db_xref="CDD:436519"
     Region          222..383
                     /region_name="NACHT"
                     /note="NACHT domain; pfam05729"
                     /db_xref="CDD:428606"
     Region          514..628
                     /region_name="NLRC4_HD2"
                     /note="NLRC4 helical domain HD2; pfam17776"
                     /db_xref="CDD:436035"
     Region          690..1069
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Site            order(691,693,696,698,713,719,721,724,726,744,747,749,752,
                     754,772,775,777,780,782,830,847,849,852,854,872,875,877,
                     880,882,900,903,905,908,910,972,979,981,984,986,1004,1009,
                     1011,1014,1016,1034,1037,1039,1042,1044,1062,1065,1067)
                     /site_type="active"
                     /note="Leucine-rich repeats [active]"
                     /db_xref="CDD:238064"
     Region          716..743
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Site            order(722..723,779,879,907,1013,1038,1040,1066)
                     /site_type="other"
                     /note="Substrate binding site [chemical binding]"
                     /db_xref="CDD:238064"
     Region          744..771
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          772..799
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          800..826
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          830..871
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          872..899
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          977..1006
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1007..1033
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1009..1336
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Site            order(1009,1011,1014,1016,1034,1037,1039,1042,1044,1071,
                     1074,1076,1079,1081,1109,1112,1114,1117,1119,1138,1140,
                     1142,1145,1147,1193,1196,1198,1201,1214,1217,1221,1224,
                     1226,1244,1247,1249,1252,1254,1296,1299,1301,1304,1306,
                     1324,1327,1329,1332,1334)
                     /site_type="active"
                     /note="Leucine-rich repeats [active]"
                     /db_xref="CDD:238064"
     Region          1034..1058
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..1356
                     /gene="NLRC5"
                     /gene_synonym="CLR16.1; NOD27; NOD4"
                     /coded_by="NM_001384971.1:167..4237"
                     /note="isoform 19 is encoded by transcript variant 24"
                     /db_xref="GeneID:84166"
                     /db_xref="HGNC:HGNC:29933"
                     /db_xref="MIM:613537"
ORIGIN      
        1 mdpvglqlgn knlwsclvrl ltkdpewlna kmkfflpntd ldsrnetldp eqrvilqlnk
       61 lhvqgsdtwq sfihcvcmql evpldlevll lstfgyddgf tsqlgaegks qpesqlhhgl
      121 krphqscgss prrkqckkqq lelakkylql lrtsaqqryr sqipgsgqph afhqvyvppi
      181 lrratasldt pegaimgdvk vedgadvsis dlfntrvnkg prvtvllgka gmgkttlahr
      241 lcqkwaeghl ncfqalflfe frqlnlitrf ltpsellfdl ylspesdhdt vfqyleknad
      301 qvllifdgld ealqpmgpdg pgpvltlfsh lcngtllpgc rvmatsrpgk lpaclpaeaa
      361 mvhmlgfdgp rveeyvnhff saqpsregal velqtngrlr slcavpalcq vaclclhhll
      421 pdhapgqsva llpnmtqlym qmvlalsppg hlptsslldl gevalrglet gkvifyakdi
      481 appliafgat hslltsfcvc tgpghqqtgy afthlslqef laalhlmasp kvnkdtltqy
      541 vtlhsrwvqr tkarlglsdh lptflaglas ctcrpflshl aqgnedcvga kqaavvqvlk
      601 klatrkltgp kvvelchcvd etqepelasl taqslpyqlp fhnfpltctd latltnileh
      661 reapihldfd gcplephcpe alvgcgqien lsfksrkcgd afaealsrsl ptmgrlqmlg
      721 lagskitarg ishlvkalpl cpqlkevsfr dnqlsdqvvl nivevlphlp rlrkldlssn
      781 sicvstllcl arvavtcptv rmlqareadl ifllspptet taelqrapdl qesdgqrkga
      841 qsrsltlrlq kcqlqvhdae aliallqegp hleevdlsgn qledegcrlm aeaasqlhia
      901 rkldlsnngl svagvhcvlr avsacwtlae lhislqhktv ifmfaqepee qkgpqeraaf
      961 ldslmlqmps elplssrrmr lthcglqekh leqlckalgg schlghlhld fsgnalgdeg
     1021 aarlaqllpg lgalqslnls englsldavl glvrcfstlq wlfrldisfe sqhillrgdk
     1081 tsrdmwatgs lpdfpaaakf lgfrqrcipr slclsecple ppsltrlcat lkdcpgplel
     1141 qlsceflsdq sletlldclp qlpqlsllql sqtglspksp fllantlslc prvkkvdlrs
     1201 lhhatlhfrs neeeegvccg lsanllgdsg lrclleclpq vpisglldls hnsisqesal
     1261 ylletlpscp rvreasvnlg seqsfrihfs redqagktlr lsecsfrpeh vsrlatglsk
     1321 slqlteltlt qcclgqkqla illslvgrpa glfsls
//
LOCUS       NP_001388624             198 aa            linear   PRI 24-MAR-2023
DEFINITION  TATA-box-binding protein-associated factor 11-like protein 13 [Homo
            sapiens].
ACCESSION   NP_001388624
VERSION     NP_001388624.1
DBSOURCE    REFSEQ: accession NM_001401695.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 198)
  AUTHORS   Tremblay DC, Alexander G Jr, Moseley S and Chadwick BP.
  TITLE     Expression, tandem repeat copy number variation and stability of
            four macrosatellite arrays in the human genome
  JOURNAL   BMC Genomics 11, 632 (2010)
   PUBMED   21078170
  REMARK    Publication Status: Online-Only
COMMENT     INFERRED REFSEQ: This record is predicted by genome sequence
            analysis and is not yet supported by experimental evidence. The
            reference sequence was derived from AC233724.2.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000639073.1/ ENSP00000491332.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.1"
     Protein         1..198
                     /product="TATA-box-binding protein-associated factor
                     11-like protein 13"
                     /calculated_mol_wt=21814
     Region          1..90
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot
                     (A0A1W2PPH5.1)"
     Region          97..181
                     /region_name="TAFII28"
                     /note="hTAFII28-like protein conserved region; pfam04719"
                     /db_xref="CDD:428086"
     Site            order(104,107..108,111..112,115,117..118,121..122,
                     125..126,129..130,142,145..147,149..151,154,158,168..172,
                     175..176,179)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:173967"
     CDS             1..198
                     /gene="TAF11L13"
                     /coded_by="NM_001401695.1:1..597"
                     /db_xref="CCDS:CCDS93699.1"
                     /db_xref="GeneID:112488747"
                     /db_xref="HGNC:HGNC:53856"
ORIGIN      
        1 metgrqtgvs aemlamprgl kgskkdgipe dldgnleepr dqegelrsed vmdltegdse
       61 asasappaak rrkthtkrkk erkptvdaee aqrmttllsa mseeqlsrye vcrrsafpra
      121 riaglmrsit gssvsenaai amagiakvfv gevveealdm cemwgetppl qpkhlreavh
      181 rlkpkglfpn snykrvmf
//
LOCUS       NP_835454                562 aa            linear   PRI 25-MAR-2023
DEFINITION  proton channel OTOP2 [Homo sapiens].
ACCESSION   NP_835454
VERSION     NP_835454.1
DBSOURCE    REFSEQ: accession NM_178160.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 562)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 562)
  AUTHORS   Qu H, Su Y, Yu L, Zhao H and Xin C.
  TITLE     Wild-type p53 regulates OTOP2 transcription through DNA loop
            alteration of the promoter in colorectal cancer
  JOURNAL   FEBS Open Bio 9 (1), 26-34 (2018)
   PUBMED   30652071
  REMARK    GeneRIF: The OTOP2 is down-regulated in cancerous tissues and that
            elevated OTOP2 effectively suppresses tumor proliferation in vitro.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 562)
  AUTHORS   Hurle B, Ignatova E, Massironi SM, Mashimo T, Rios X, Thalmann I,
            Thalmann R and Ornitz DM.
  TITLE     Non-syndromic vestibular disorder with otoconial agenesis in
            tilted/mergulhador mice caused by mutations in otopetrin 1
  JOURNAL   Hum Mol Genet 12 (7), 777-789 (2003)
   PUBMED   12651873
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087651.19.
            This sequence is a reference standard in the RefSeqGene project.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968540,
                              SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331427.9/ ENSP00000332528.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..562
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     Protein         1..562
                     /product="proton channel OTOP2"
                     /calculated_mol_wt=62105
     Region          1..20
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTS6.3)"
     Site            30..50
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTS6.3)"
     Site            62..82
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTS6.3)"
     Site            100..120
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTS6.3)"
     Region          103..548
                     /region_name="Otopetrin"
                     /note="pfam03189"
                     /db_xref="CDD:427189"
     Site            137..157
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTS6.3)"
     Site            169..189
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTS6.3)"
     Site            241..261
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTS6.3)"
     Site            289..309
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTS6.3)"
     Site            324..344
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTS6.3)"
     Site            371..391
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTS6.3)"
     Site            402..422
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTS6.3)"
     Site            495..515
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTS6.3)"
     Site            527..547
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTS6.3)"
     CDS             1..562
                     /gene="OTOP2"
                     /coded_by="NM_178160.3:95..1783"
                     /db_xref="CCDS:CCDS11708.1"
                     /db_xref="GeneID:92736"
                     /db_xref="HGNC:HGNC:19657"
                     /db_xref="MIM:607827"
ORIGIN      
        1 mseelaqgpk esppapragp revwkkggrl lsvllavnvl llactlisgg afnkvavydt
       61 dvfalltamm llatlwilfy llrtvrcpca vpyrdahagp iwlrgglvlf gictlimdvf
      121 ktgyyssffe cqsaikilhp liqavfviiq tyflwvsakd cvhvhldltw cglmftlttn
      181 laiwmaavvd esvhqshsys sshsnashar lisdqhadnp vggdsclcst avcqifqqgy
      241 fylypfniey slfastmlyv mwknvgrfla stpghshtpt pvslfretff agpvlglllf
      301 vvglavfiiy evqvsgdgsr trqalviyys fnivclgltt lvslsgsiiy rfdrramdhh
      361 knptrtldva llmgaalgqy aisyysivav vagtpqdlla glnlthallm iaqhtfqnmf
      421 iieslhrgpp gaephsthpk epcqdltftn ldalhtlsac ppnpglvsps psdqreavai
      481 vstprsqwrr qclkdislfl llcnvilwim pafgarphfs ntvevdfygy slwavivnic
      541 lpfgifyrmh avssllevyv ls
//
LOCUS       NP_001354639            1099 aa            linear   PRI 02-APR-2023
DEFINITION  mitotic deacetylase-associated SANT domain protein isoform 2 [Homo
            sapiens].
ACCESSION   NP_001354639 XP_005268261
VERSION     NP_001354639.1
DBSOURCE    REFSEQ: accession NM_001367710.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1099)
  AUTHORS   Turnbull RE, Fairall L, Saleh A, Kelsall E, Morris KL, Ragan TJ,
            Savva CG, Chandru A, Millard CJ, Makarova OV, Smith CJ, Roseman AM,
            Fry AM, Cowley SM and Schwabe JWR.
  TITLE     The MiDAC histone deacetylase complex is essential for embryonic
            development and has a unique multivalent structure
  JOURNAL   Nat Commun 11 (1), 3252 (2020)
   PUBMED   32591534
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1099)
  AUTHORS   Itoh T, Fairall L, Muskett FW, Milano CP, Watson PJ, Arnaudo N,
            Saleh A, Millard CJ, El-Mezgueldi M, Martino F and Schwabe JW.
  TITLE     Structural and functional characterization of a cell cycle
            associated HDAC1/2 complex reveals the structural basis for complex
            assembly and nucleosome targeting
  JOURNAL   Nucleic Acids Res 43 (4), 2033-2044 (2015)
   PUBMED   25653165
REFERENCE   3  (residues 1 to 1099)
  AUTHORS   Bantscheff M, Hopf C, Savitski MM, Dittmann A, Grandi P, Michon AM,
            Schlegl J, Abraham Y, Becher I, Bergamini G, Boesche M, Delling M,
            Dumpelfeld B, Eberhard D, Huthmacher C, Mathieson T, Poeckel D,
            Reader V, Strunk K, Sweetman G, Kruse U, Neubauer G, Ramsden NG and
            Drewes G.
  TITLE     Chemoproteomics profiling of HDAC inhibitors reveals selective
            targeting of HDAC complexes
  JOURNAL   Nat Biotechnol 29 (3), 255-265 (2011)
   PUBMED   21258344
  REMARK    GeneRIF: C14ORF43 (MIDEAS) is part of a mitotic deacetylase complex
            (MIDAC) formed in cell division with HDAC1/HDAC2 and DNTTIP1.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006146.2.
            On Dec 13, 2018 this sequence version replaced XP_005268261.1.
            
            Transcript Variant: This variant (3) encodes the longer isoform
            (2). Variants 3 and 4 both encode the same isoform (2).
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000423556.7/ ENSP00000407767.2
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, expression, longest
                                         protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1099
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     Protein         1..1099
                     /product="mitotic deacetylase-associated SANT domain
                     protein isoform 2"
                     /note="ELM2 and SANT domain-containing protein 1; ELM2 and
                     Myb/SANT-like domain containing 1; ELM2 and Myb/SANT
                     domain containing 1"
                     /calculated_mol_wt=120603
     mat_peptide     1..1045
                     /product="Mitotic deacetylase-associated SANT domain
                     protein. /id=PRO_0000259764"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJG2.2)"
                     /calculated_mol_wt=114989
     Region          1..69
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Region          99..159
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Site            193
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Region          228..264
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Region          276..305
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Region          330..349
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Region          378..397
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Region          410..441
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Site            447
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Site            461
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Region          543..563
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Site            655
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Site            661
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Site            704
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Site            709
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Site            715
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Region          723..778
                     /region_name="ELM2"
                     /note="ELM2 domain; pfam01448"
                     /db_xref="CDD:426267"
     Region          832..876
                     /region_name="SANT"
                     /note="'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains.
                     Tandem copies of the domain bind telomeric DNA tandem
                     repeatsas part of the capping complex. Binding is sequence
                     dependent for repeats which contain the G/C rich motif
                     [C2-3 A (CA)1-6]. The domain is...; cl21498"
                     /db_xref="CDD:451276"
     Site            order(833,862..863,865..866,868..870,872..874)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:212559"
     Region          887..1045
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJG2.2)"
     Site            923
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6PJG2.2)"
     CDS             1..1099
                     /gene="MIDEAS"
                     /gene_synonym="C14orf117; C14orf43; c14_5541; ELMSAN1;
                     LSR68"
                     /coded_by="NM_001367710.1:789..4088"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS91901.1"
                     /db_xref="GeneID:91748"
                     /db_xref="HGNC:HGNC:19853"
ORIGIN      
        1 mnlqaqpkaq nkrkrclfgg qepapkeqpp plqppqqsir vkeeqylghe gpggavstsq
       61 pvelpppssl allnsvvygp ertsaamlsq qvasvkwpns vmapgrgper gggggvsdss
      121 wqqqpgqppp hstwnchsls lysatkgsph pgvgvptyyn hpealkreka ggpqldryvr
      181 pmmpqkvqle vgrpqaplns fhaakkppnq slplqpfqla fghqvnrqvf rqgppppnpv
      241 aafppqkqqq qqqpqqqqqq qqaalpqmpl fenfysmpqq psqqpqdfgl qpagplgqsh
      301 lahhsmapyp fppnpdmnpe lrkallqdsa pqpalpqvqi pfprrsrrls kegilppsal
      361 dgagtqpgqe atgnlflhhw plqqpppgsl gqphpealgf plelresqll pdgerlapng
      421 rereapamgs eegmravstg dcgqvlrggv iqstrrrrra sqeanlltla qkavelaslq
      481 nakdgsgsee krksvlastt kcgvefseps latkrareds gmvpliipvs vpvrtvdpte
      541 aaqagglded gkgpeqnpae hkpsvivtrr rstripgtda qaqaedmnvk legepsvrkp
      601 kqrprpepli iptkagtfia ppvysnitpy qshlrspvrl adhpsersfe lppytpppil
      661 spvregsgly fnaiiststi papppitpks ahrtllrtns aevtppvlsv mgeatpvsie
      721 prinvgsrfq aeiplmrdra laaadphkad lvwqpwedle ssrekqrqve dlltaacssi
      781 fpgagtnqel alhclhesrg diletlnkll lkkplrphnh platyhytgs dqwkmaerkl
      841 fnkgiaiykk dfflvqkliq tktvaqcvef yytykkqvki grngtltfgd vdtsdeksaq
      901 eevevdikts qkfprvplpr respseerle pkrevkeprk egeeevpeiq ekeeqeegre
      961 rsrraaavka tqtlqanesa sdililrshe snapgsaggq asekpregtg ksrralpfse
     1021 kkkktetfsk tqnqentfpc kkcgrvfykv ksrsahmksh aeqekkaaal rlkekeaaaa
     1081 aaaahqqalr eesgagdkg
//
LOCUS       NP_001372093             249 aa            linear   PRI 03-APR-2023
DEFINITION  major histocompatibility complex class I-related gene protein
            isoform 3 precursor [Homo sapiens].
ACCESSION   NP_001372093
VERSION     NP_001372093.1
DBSOURCE    REFSEQ: accession NM_001385164.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 249)
  AUTHORS   Wyatt-Johnson SK, Kersey HN, Codocedo JF, Newell KL, Landreth GE,
            Lamb BT, Oblak AL and Brutkiewicz RR.
  TITLE     Control of the temporal development of Alzheimer's disease
            pathology by the MR1/MAIT cell axis
  JOURNAL   J Neuroinflammation 20 (1), 78 (2023)
   PUBMED   36944969
  REMARK    GeneRIF: Control of the temporal development of Alzheimer's disease
            pathology by the MR1/MAIT cell axis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 249)
  AUTHORS   Ashley CL, McSharry BP, McWilliam HEG, Stanton RJ, Fielding CA,
            Mathias RA, Fairlie DP, McCluskey J, Villadangos JA, Rossjohn J,
            Abendroth A and Slobedman B.
  TITLE     Suppression of MR1 by human cytomegalovirus inhibits MAIT cell
            activation
  JOURNAL   Front Immunol 14, 1107497 (2023)
   PUBMED   36845106
  REMARK    GeneRIF: Suppression of MR1 by human cytomegalovirus inhibits MAIT
            cell activation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 249)
  AUTHORS   du Halgouet A, Darbois A, Alkobtawi M, Mestdagh M, Alphonse A,
            Premel V, Yvorra T, Colombeau L, Rodriguez R, Zaiss D, El Morr Y,
            Bugaut H, Legoux F, Perrin L, Aractingi S, Golub R, Lantz O and
            Salou M.
  TITLE     Role of MR1-driven signals and amphiregulin on the recruitment and
            repair function of MAIT cells during skin wound healing
  JOURNAL   Immunity 56 (1), 78-92 (2023)
   PUBMED   36630919
  REMARK    GeneRIF: Role of MR1-driven signals and amphiregulin on the
            recruitment and repair function of MAIT cells during skin wound
            healing.
REFERENCE   4  (residues 1 to 249)
  AUTHORS   Lim HJ, Wubben JM, Garcia CP, Cruz-Gomez S, Deng J, Mak JYW,
            Hachani A, Anderson RJ, Painter GF, Goyette J, Amarasinghe SL,
            Ritchie ME, Roquilly A, Fairlie DP, Gaus K, Rossjohn J, Villadangos
            JA and McWilliam HEG.
  TITLE     A specialized tyrosine-based endocytosis signal in MR1 controls
            antigen presentation to MAIT cells
  JOURNAL   J Cell Biol 221 (12) (2022)
   PUBMED   36129434
  REMARK    GeneRIF: A specialized tyrosine-based endocytosis signal in MR1
            controls antigen presentation to MAIT cells.
REFERENCE   5  (residues 1 to 249)
  AUTHORS   Kulicke CA, De Zan E, Hein Z, Gonzalez-Lopez C, Ghanwat S, Veerapen
            N, Besra GS, Klenerman P, Christianson JC, Springer S, Nijman SM,
            Cerundolo V and Salio M.
  TITLE     The P5-type ATPase ATP13A1 modulates major histocompatibility
            complex I-related protein 1 (MR1)-mediated antigen presentation
  JOURNAL   J Biol Chem 298 (2), 101542 (2022)
   PUBMED   34968463
  REMARK    GeneRIF: The P5-type ATPase ATP13A1 modulates major
            histocompatibility complex I-related protein 1 (MR1)-mediated
            antigen presentation.
REFERENCE   6  (residues 1 to 249)
  AUTHORS   Parra-Cuadrado JF, Navarro P, Mirones I, Setien F, Oteo M and
            Martinez-Naves E.
  TITLE     A study on the polymorphism of human MHC class I-related MR1 gene
            and identification of an MR1-like pseudogene
  JOURNAL   Tissue Antigens 56 (2), 170-172 (2000)
   PUBMED   11019920
REFERENCE   7  (residues 1 to 249)
  AUTHORS   Riegert P, Wanner V and Bahram S.
  TITLE     Genomics, isoforms, expression, and phylogeny of the MHC class
            I-related MR1 gene
  JOURNAL   J Immunol 161 (8), 4066-4077 (1998)
   PUBMED   9780177
REFERENCE   8  (residues 1 to 249)
  AUTHORS   Yamaguchi H, Kurosawa Y and Hashimoto K.
  TITLE     Expanded genomic organization of conserved mammalian MHC class
            I-related genes, human MR1 and its murine ortholog
  JOURNAL   Biochem Biophys Res Commun 250 (3), 558-564 (1998)
   PUBMED   9784382
REFERENCE   9  (residues 1 to 249)
  AUTHORS   Yamaguchi H, Hirai M, Kurosawa Y and Hashimoto K.
  TITLE     A highly conserved major histocompatibility complex class I-related
            gene in mammals
  JOURNAL   Biochem Biophys Res Commun 238 (3), 697-702 (1997)
   PUBMED   9325151
REFERENCE   10 (residues 1 to 249)
  AUTHORS   Hashimoto K, Hirai M and Kurosawa Y.
  TITLE     A gene outside the human MHC related to classical HLA class I genes
  JOURNAL   Science 269 (5224), 693-695 (1995)
   PUBMED   7624800
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356267.27.
            
            Summary: MAIT (mucosal-associated invariant T-cells) lymphocytes
            represent a small population of T-cells primarily found in the gut.
            The protein encoded by this gene is an antigen-presenting molecule
            that presents metabolites of microbial vitamin B to MAITs. This
            presentation may activate the MAITs to regulate the amounts of
            specific types of bacteria in the gut. Several transcript variants
            encoding different isoforms have been found for this gene, and a
            pseudogene of it has been detected about 36 kbp upstream on the
            same chromosome. [provided by RefSeq, Jul 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK290374.1, AF031469.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..249
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.3"
     Protein         1..249
                     /product="major histocompatibility complex class I-related
                     gene protein isoform 3 precursor"
                     /note="major histocompatibility complex, class I-like
                     sequence; major histocompatibility complex class I-related
                     gene protein; MHC class I-like antigen MR-1; MHC class-I
                     related-gene protein; MHC class I-related protein"
                     /calculated_mol_wt=26533
     sig_peptide     1..22
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2458
     Region          23..201
                     /region_name="Antigen-binding cleft.
                     /evidence=ECO:0000269|PubMed:24695216"
                     /note="propagated from UniProtKB/Swiss-Prot (Q95460.1)"
     Region          23..109
                     /region_name="Alpha-1. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q95460.1)"
     Region          25..198
                     /region_name="MHC_I"
                     /note="Class I Histocompatibility antigen, domains alpha 1
                     and 2; cl08246"
                     /db_xref="CDD:447588"
     Site            107
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12794138; propagated from
                     UniProtKB/Swiss-Prot (Q95460.1)"
     Region          110..201
                     /region_name="Alpha-2. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q95460.1)"
     CDS             1..249
                     /gene="MR1"
                     /gene_synonym="HLALS"
                     /coded_by="NM_001385164.1:26..775"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 9"
                     /db_xref="CCDS:CCDS53440.1"
                     /db_xref="GeneID:3140"
                     /db_xref="HGNC:HGNC:4975"
                     /db_xref="MIM:600764"
ORIGIN      
        1 mgelmafllp liivlmvkhs dsrthslryf rlgvsdpihg vpefisvgyv dshpittyds
       61 vtrqkeprap wmaenlapdh werytqllrg wqqmfkvelk rlqrhynhsg shtyqrmigc
      121 elledgsttg flqyaydgqd flifnkdtls wlavdnvaht ikqaweanqh ellyqknwle
      181 eeciawlkrf leygkdtlqr tesetiplvm kavsgsivlv ivlagvgvlv wrrrpreqng
      241 aiylptpdr
//
LOCUS       NP_005937                 61 aa            linear   PRI 03-APR-2023
DEFINITION  metallothionein-1A [Homo sapiens].
ACCESSION   NP_005937
VERSION     NP_005937.2
DBSOURCE    REFSEQ: accession NM_005946.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 61)
  AUTHORS   Michalczyk K, Kapczuk P, Witczak G, Tousty P, Bosiacki M, Kurzawski
            M, Chlubek D and Cymbaluk-Ploska A.
  TITLE     An Assessment of MT1A (rs11076161), MT2A (rs28366003) and MT1L
            (rs10636) Gene Polymorphisms and MT2 Concentration in Women with
            Endometrial Pathologies
  JOURNAL   Genes (Basel) 14 (3), 773 (2023)
   PUBMED   36981043
  REMARK    GeneRIF: An Assessment of MT1A (rs11076161), MT2A (rs28366003) and
            MT1L (rs10636) Gene Polymorphisms and MT2 Concentration in Women
            with Endometrial Pathologies.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 61)
  AUTHORS   Jakovac H, Stasic N, Krasevic M, Jonjic N and Radosevic-Stasic B.
  TITLE     Expression profiles of metallothionein-I/II and megalin/LRP-2 in
            uterine cervical squamous lesions
  JOURNAL   Virchows Arch 478 (4), 735-746 (2021)
   PUBMED   33084977
  REMARK    GeneRIF: Expression profiles of metallothionein-I/II and
            megalin/LRP-2 in uterine cervical squamous lesions.
REFERENCE   3  (residues 1 to 61)
  AUTHORS   Melenbacher A, Korkola NC and Stillman MJ.
  TITLE     The pathways and domain specificity of Cu(I) binding to human
            metallothionein 1A
  JOURNAL   Metallomics 12 (12), 1951-1964 (2020)
   PUBMED   33225329
  REMARK    GeneRIF: The pathways and domain specificity of Cu(I) binding to
            human metallothionein 1A.
REFERENCE   4  (residues 1 to 61)
  AUTHORS   Thirumoorthy N, Manisenthil Kumar KT, Shyam Sundar A, Panayappan L
            and Chatterjee M.
  TITLE     Metallothionein: an overview
  JOURNAL   World J Gastroenterol 13 (7), 993-996 (2007)
   PUBMED   17373731
  REMARK    GeneRIF: One biomarker which has recently shown to be expressed in
            various human tumors but still less reported in carcinoma is
            metallothionein.
            Review article
REFERENCE   5  (residues 1 to 61)
  AUTHORS   Levadoux-Martin M, Hesketh JE, Beattie JH and Wallace HM.
  TITLE     Influence of metallothionein-1 localization on its function
  JOURNAL   Biochem J 355 (Pt 2), 473-479 (2001)
   PUBMED   11284736
REFERENCE   6  (residues 1 to 61)
  AUTHORS   Masters BA, Kelly EJ, Quaife CJ, Brinster RL and Palmiter RD.
  TITLE     Targeted disruption of metallothionein I and II genes increases
            sensitivity to cadmium
  JOURNAL   Proc Natl Acad Sci U S A 91 (2), 584-588 (1994)
   PUBMED   8290567
  REMARK    GeneRIF: Disruption of metallothionein I and II genes in mouse
            produced viable mice with increased susceptibility to cadmium
            poisoning.
REFERENCE   7  (residues 1 to 61)
  AUTHORS   Grider A, Bailey LB and Cousins RJ.
  TITLE     Erythrocyte metallothionein as an index of zinc status in humans
  JOURNAL   Proc Natl Acad Sci U S A 87 (4), 1259-1262 (1990)
   PUBMED   2304897
REFERENCE   8  (residues 1 to 61)
  AUTHORS   Sutherland GR, Baker E, Callen DF, Garson OM and West AK.
  TITLE     The human metallothionein gene cluster is not disrupted in
            myelomonocytic leukemia
  JOURNAL   Genomics 6 (1), 144-148 (1990)
   PUBMED   2303255
REFERENCE   9  (residues 1 to 61)
  AUTHORS   Le Beau,M.M., Diaz,M.O., Karin,M. and Rowley,J.D.
  TITLE     Metallothionein gene cluster is split by chromosome 16
            rearrangements in myelomonocytic leukaemia
  JOURNAL   Nature 313 (6004), 709-711 (1985)
   PUBMED   3856101
REFERENCE   10 (residues 1 to 61)
  AUTHORS   Karin,M., Eddy,R.L., Henry,W.M., Haley,L.L., Byers,M.G. and
            Shows,T.B.
  TITLE     Human metallothionein genes are clustered on chromosome 16
  JOURNAL   Proc Natl Acad Sci U S A 81 (17), 5494-5498 (1984)
   PUBMED   6089206
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY028617.1 and BC029475.1.
            On Jul 27, 2005 this sequence version replaced NP_005937.1.
            
            Summary: This gene is a member of the metallothionein family of
            genes. Proteins encoded by this gene family are low in molecular
            weight, are cysteine-rich, lack aromatic residues, and bind
            divalent heavy metal ions. The conserved cysteine residues
            co-ordinate metal ions using mercaptide linkages. These proteins
            act as anti-oxidants, protect against hydroxyl free radicals, are
            important in homeostatic control of metal in the cell, and play a
            role in detoxification of heavy metals. Disruption of two
            metallothionein genes in mouse resulted in defects in protection
            against heavy metals, oxidative stress, immune reactions,
            carcinogens, and displayed obesity. [provided by RefSeq, Sep 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY028617.1, BJ995397.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000290705.12/ ENSP00000290705.8
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..61
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q13"
     Protein         1..61
                     /product="metallothionein-1A"
                     /note="metallothionein 1A (functional); metallothionein
                     1S; metallothionein-IA"
                     /calculated_mol_wt=5989
     Region          1..29
                     /region_name="Beta"
                     /note="propagated from UniProtKB/Swiss-Prot (P04731.2)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000250|UniProtKB:P11957; propagated from
                     UniProtKB/Swiss-Prot (P04731.2)"
     Region          4..61
                     /region_name="Metallothio"
                     /note="Metallothionein; pfam00131"
                     /db_xref="CDD:395080"
     Region          30..61
                     /region_name="Alpha"
                     /note="propagated from UniProtKB/Swiss-Prot (P04731.2)"
     Site            58
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P02795; propagated from
                     UniProtKB/Swiss-Prot (P04731.2)"
     CDS             1..61
                     /gene="MT1A"
                     /gene_synonym="MT-1A; MT-IA; MT1; MT1S; MTC"
                     /coded_by="NM_005946.3:74..259"
                     /db_xref="CCDS:CCDS32454.1"
                     /db_xref="GeneID:4489"
                     /db_xref="HGNC:HGNC:7393"
                     /db_xref="MIM:156350"
ORIGIN      
        1 mdpncscatg gsctctgsck ckeckctsck ksccsccpms cakcaqgcic kgasekcscc
       61 a
//
LOCUS       NP_001300958             245 aa            linear   PRI 03-APR-2023
DEFINITION  programmed cell death 1 ligand 1 isoform c precursor [Homo
            sapiens].
ACCESSION   NP_001300958
VERSION     NP_001300958.1
DBSOURCE    REFSEQ: accession NM_001314029.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 245)
  AUTHORS   Majer C, Lingel H, Arra A, Heuft HG, Bretschneider D, Balk S, Vogel
            K and Brunner-Weinzierl MC.
  TITLE     PD-1/PD-L1 Control of Antigen-Specifically Activated CD4 T-Cells of
            Neonates
  JOURNAL   Int J Mol Sci 24 (6), 5662 (2023)
   PUBMED   36982735
  REMARK    GeneRIF: PD-1/PD-L1 Control of Antigen-Specifically Activated CD4
            T-Cells of Neonates.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 245)
  AUTHORS   Cheng X, Veverka V, Radhakrishnan A, Waters LC, Muskett FW, Morgan
            SH, Huo J, Yu C, Evans EJ, Leslie AJ, Griffiths M, Stubberfield C,
            Griffin R, Henry AJ, Jansson A, Ladbury JE, Ikemizu S, Carr MD and
            Davis SJ.
  TITLE     Structure and interactions of the human programmed cell death 1
            receptor
  JOURNAL   J Biol Chem 288 (17), 11771-11785 (2013)
   PUBMED   23417675
REFERENCE   3  (residues 1 to 245)
  AUTHORS   Amarnath S, Costanzo CM, Mariotti J, Ullman JL, Telford WG, Kapoor
            V, Riley JL, Levine BL, June CH, Fong T, Warner NL and Fowler DH.
  TITLE     Regulatory T cells and human myeloid dendritic cells promote
            tolerance via programmed death ligand-1
  JOURNAL   PLoS Biol 8 (2), e1000302 (2010)
   PUBMED   20126379
  REMARK    GeneRIF: Human Tregs can promote immune suppression via DC
            modulation through PD-L1 up-regulation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 245)
  AUTHORS   Lin DY, Tanaka Y, Iwasaki M, Gittis AG, Su HP, Mikami B, Okazaki T,
            Honjo T, Minato N and Garboczi DN.
  TITLE     The PD-1/PD-L1 complex resembles the antigen-binding Fv domains of
            antibodies and T cell receptors
  JOURNAL   Proc Natl Acad Sci U S A 105 (8), 3011-3016 (2008)
   PUBMED   18287011
REFERENCE   5  (residues 1 to 245)
  AUTHORS   Trabattoni D, Saresella M, Biasin M, Boasso A, Piacentini L,
            Ferrante P, Dong H, Maserati R, Shearer GM, Chen L and Clerici M.
  TITLE     B7-H1 is up-regulated in HIV infection and is a novel surrogate
            marker of disease progression
  JOURNAL   Blood 101 (7), 2514-2520 (2003)
   PUBMED   12468426
  REMARK    GeneRIF: up-regulation in HIV infection, relation to disease
            progression, and possible role in AIDS progression
REFERENCE   6  (residues 1 to 245)
  AUTHORS   Brown JA, Dorfman DM, Ma FR, Sullivan EL, Munoz O, Wood CR,
            Greenfield EA and Freeman GJ.
  TITLE     Blockade of programmed death-1 ligands on dendritic cells enhances
            T cell activation and cytokine production
  JOURNAL   J Immunol 170 (3), 1257-1266 (2003)
   PUBMED   12538684
  REMARK    GeneRIF: Blockade of PD-L1 during T cell responses initiated by
            allogenic dendritic cells increases T cell proliferation and
            cytokine production, showing that PD-L1 functions to inhibit T cell
            activation.
REFERENCE   7  (residues 1 to 245)
  AUTHORS   Mazanet MM and Hughes CC.
  TITLE     B7-H1 is expressed by human endothelial cells and suppresses T cell
            cytokine synthesis
  JOURNAL   J Immunol 169 (7), 3581-3588 (2002)
   PUBMED   12244148
  REMARK    GeneRIF: B7-H1 is inducible on human endothelial cells by IFN-gamma
            both in vitro and in vivo; blocking its interaction with its
            receptor (PD-1) on T cells augments T cell cytokine synthesis.
REFERENCE   8  (residues 1 to 245)
  AUTHORS   Dong H, Strome SE, Salomao DR, Tamura H, Hirano F, Flies DB, Roche
            PC, Lu J, Zhu G, Tamada K, Lennon VA, Celis E and Chen L.
  TITLE     Tumor-associated B7-H1 promotes T-cell apoptosis: a potential
            mechanism of immune evasion
  JOURNAL   Nat Med 8 (8), 793-800 (2002)
   PUBMED   12091876
  REMARK    GeneRIF: Cancer cell-associated B7-H1 increases apoptosis of
            antigen-specific human T-cell clones in vitro
            Erratum:[Nat Med 2002 Sep;8(9):1039]
REFERENCE   9  (residues 1 to 245)
  AUTHORS   Freeman GJ, Long AJ, Iwai Y, Bourque K, Chernova T, Nishimura H,
            Fitz LJ, Malenkovich N, Okazaki T, Byrne MC, Horton HF, Fouser L,
            Carter L, Ling V, Bowman MR, Carreno BM, Collins M, Wood CR and
            Honjo T.
  TITLE     Engagement of the PD-1 immunoinhibitory receptor by a novel B7
            family member leads to negative regulation of lymphocyte activation
  JOURNAL   J Exp Med 192 (7), 1027-1034 (2000)
   PUBMED   11015443
REFERENCE   10 (residues 1 to 245)
  AUTHORS   Dong H, Zhu G, Tamada K and Chen L.
  TITLE     B7-H1, a third member of the B7 family, co-stimulates T-cell
            proliferation and interleukin-10 secretion
  JOURNAL   Nat Med 5 (12), 1365-1369 (1999)
   PUBMED   10581077
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ836393.1, DB160805.1 and
            AA399416.1.
            
            Summary: This gene encodes an immune inhibitory receptor ligand
            that is expressed by hematopoietic and non-hematopoietic cells,
            such as T cells and B cells and various types of tumor cells. The
            encoded protein is a type I transmembrane protein that has
            immunoglobulin V-like and C-like domains. Interaction of this
            ligand with its receptor inhibits T-cell activation and cytokine
            production. During infection or inflammation of normal tissue, this
            interaction is important for preventing autoimmunity by maintaining
            homeostasis of the immune response. In tumor microenvironments,
            this interaction provides an immune escape for tumor cells through
            cytotoxic T-cell inactivation. Expression of this gene in tumor
            cells is considered to be prognostic in many types of human
            malignancies, including colon cancer and renal cell carcinoma.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2015].
            
            Transcript Variant: This variant (4) lacks several exons and its 3'
            terminal exon extends past a splice site that is used in variant 1.
            This results in a novel 3' coding region and novel 3' UTR compared
            to variant 1. It encodes isoform c which is shorter than and has a
            distinct C-terminus compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.39711.1, DA225575.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..245
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.1"
     Protein         1..245
                     /product="programmed cell death 1 ligand 1 isoform c
                     precursor"
                     /note="CD274 antigen; programmed cell death 1 ligand 1; B7
                     homolog 1; PDCD1 ligand 1"
                     /calculated_mol_wt=25795
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2274
     Region          21..130
                     /region_name="IgV_PDl1"
                     /note="Immunoglobulin Variable (IgV) domain of Programmed
                     death ligand 1 (PD-L1); cd20947"
                     /db_xref="CDD:409539"
     Region          21..41
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409539"
     Region          21..24
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409539"
     Region          26..31
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409539"
     Region          33..41
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409539"
     Site            35
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NZQ7.1)"
     Region          42..53
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409539"
     Region          53..59
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409539"
     Region          54..62
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409539"
     Region          63..74
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409539"
     Region          63..68
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409539"
     Region          70..74
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409539"
     Region          75..116
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409539"
     Region          84..88
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409539"
     Region          96..103
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409539"
     Region          107..117
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409539"
     Region          117..121
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409539"
     Region          121..130
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409539"
     Region          122..130
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409539"
     Region          138..211
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          151..155
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          164..173
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            192
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q9NZQ7.1)"
     Region          195..199
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Site            200
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NZQ7.1)"
     Region          206..211
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            219
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NZQ7.1)"
     CDS             1..245
                     /gene="CD274"
                     /gene_synonym="B7-H; B7H1; hPD-L1; PD-L1; PDCD1L1;
                     PDCD1LG1; PDL1"
                     /coded_by="NM_001314029.2:70..807"
                     /note="isoform c precursor is encoded by transcript
                     variant 4"
                     /db_xref="GeneID:29126"
                     /db_xref="HGNC:HGNC:17635"
                     /db_xref="MIM:605402"
ORIGIN      
        1 mrifavfifm tywhllnaft vtvpkdlyvv eygsnmtiec kfpvekqldl aalivyweme
       61 dkniiqfvhg eedlkvqhss yrqrarllkd qlslgnaalq itdvklqdag vyrcmisygg
      121 adykritvkv napynkinqr ilvvdpvtse heltcqaegy pkaeviwtss dhqvlsgktt
      181 ttnskreekl fnvtstlrin tttneifyct frrldpeenh taelvipgni lnvsikiclt
      241 lspst
//
LOCUS       NP_976042                329 aa            linear   PRI 05-APR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM7 isoform 2 [Homo sapiens].
ACCESSION   NP_976042
VERSION     NP_976042.1
DBSOURCE    REFSEQ: accession NM_203297.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 329)
  AUTHORS   Lu M, Ma A, Liu J, Zhou W, Cao P, Chu T and Fan L.
  TITLE     Study on the expression of TRIM7 in peripheral blood mononuclear
            cells of patients with sepsis and its early diagnostic value
  JOURNAL   BMC Infect Dis 22 (1), 865 (2022)
   PUBMED   36402943
  REMARK    GeneRIF: Study on the expression of TRIM7 in peripheral blood
            mononuclear cells of patients with sepsis and its early diagnostic
            value.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 329)
  AUTHORS   Liang X, Xiao J, Li X, Liu Y, Lu Y, Wen Y, Li Z, Che X, Ma Y, Zhang
            X, Zhang Y, Jian D, Wang P, Xuan C, Yu G, Li L and Zhang H.
  TITLE     A C-terminal glutamine recognition mechanism revealed by E3 ligase
            TRIM7 structures
  JOURNAL   Nat Chem Biol 18 (11), 1214-1223 (2022)
   PUBMED   35982226
  REMARK    GeneRIF: A C-terminal glutamine recognition mechanism revealed by
            E3 ligase TRIM7 structures.
REFERENCE   3  (residues 1 to 329)
  AUTHORS   Li K, Chen B, Xu A, Shen J, Li K, Hao K, Hao R, Yang W, Jiang W,
            Zheng Y, Ge F and Wang Z.
  TITLE     TRIM7 modulates NCOA4-mediated ferritinophagy and ferroptosis in
            glioblastoma cells
  JOURNAL   Redox Biol 56, 102451 (2022)
   PUBMED   36067704
  REMARK    GeneRIF: TRIM7 modulates NCOA4-mediated ferritinophagy and
            ferroptosis in glioblastoma cells.
REFERENCE   4  (residues 1 to 329)
  AUTHORS   Zhou F, Liu Y, Ai W, Wang Y, Gan M, Jiang Q, Han T and Wang JB.
  TITLE     GNIP1 functions both as a scaffold protein and an E3 ubiquitin
            ligase to regulate autophagy in lung cancer
  JOURNAL   Cell Commun Signal 20 (1), 133 (2022)
   PUBMED   36042481
  REMARK    GeneRIF: GNIP1 functions both as a scaffold protein and an E3
            ubiquitin ligase to regulate autophagy in lung cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 329)
  AUTHORS   Luptak J, Mallery DL, Jahun AS, Albecka A, Clift D, Ather O,
            Slodkowicz G, Goodfellow I and James LC.
  TITLE     TRIM7 Restricts Coxsackievirus and Norovirus Infection by Detecting
            the C-Terminal Glutamine Generated by 3C Protease Processing
  JOURNAL   Viruses 14 (8), 1610 (2022)
   PUBMED   35893676
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 329)
  AUTHORS   Liang Q, Deng H, Li X, Wu X, Tang Q, Chang TH, Peng H, Rauscher FJ
            3rd, Ozato K and Zhu F.
  TITLE     Tripartite motif-containing protein 28 is a small ubiquitin-related
            modifier E3 ligase and negative regulator of IFN regulatory factor
            7
  JOURNAL   J Immunol 187 (9), 4754-4763 (2011)
   PUBMED   21940674
  REMARK    GeneRIF: TRIM28 is a specific SUMO E3 ligase of interferon
            regulatory factor (IRF)7 and negatively regulates its activity and
            interferon (IFN)-based antiviral responses, in support of the
            expanding roles of TRIM proteins which regulate innate immunity.
REFERENCE   7  (residues 1 to 329)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   8  (residues 1 to 329)
  AUTHORS   Zhai L, Dietrich A, Skurat AV and Roach PJ.
  TITLE     Structure-function analysis of GNIP, the glycogenin-interacting
            protein
  JOURNAL   Arch Biochem Biophys 421 (2), 236-242 (2004)
   PUBMED   14984203
REFERENCE   9  (residues 1 to 329)
  AUTHORS   Skurat AV, Dietrich AD, Zhai L and Roach PJ.
  TITLE     GNIP, a novel protein that binds and activates glycogenin, the
            self-glucosylating initiator of glycogen biosynthesis
  JOURNAL   J Biol Chem 277 (22), 19331-19338 (2002)
   PUBMED   11916970
  REMARK    GeneRIF: GNIP, a novel protein that binds and activates glycogenin,
            the self-glucosylating initiator of glycogen biosynthesis
REFERENCE   10 (residues 1 to 329)
  AUTHORS   Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L,
            Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci
            S, Pelicci PG and Ballabio A.
  TITLE     The tripartite motif family identifies cell compartments
  JOURNAL   EMBO J 20 (9), 2140-2151 (2001)
   PUBMED   11331580
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF396655.1, AC008443.10,
            BM825056.1 and BQ000256.1.
            
            Summary: The protein encoded by this gene is a member of the
            tripartite motif (TRIM) family. The TRIM motif includes three
            zinc-binding domains, a RING, a B-box type 1, a B-box type 2, and a
            coiled-coil region. The protein localizes to both the nucleus and
            the cytoplasm, and may represent a participant in the initiation of
            glycogen synthesis. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (2, also known as GNIP3) differs
            in the 5' UTR and the 5' coding region, and initiates translation
            at an alternate start codon, compared to variant 1. It encodes
            isoform 2, which has a shorter and distinct N-terminus, compared to
            isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF396655.1, SRR14038192.842009.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..329
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     Protein         1..329
                     /product="E3 ubiquitin-protein ligase TRIM7 isoform 2"
                     /EC_number="2.3.2.27"
                     /note="glycogenin-interacting protein; tripartite motif
                     protein TRIM7; RING finger protein 90; E3
                     ubiquitin-protein ligase TRIM7"
                     /calculated_mol_wt=36957
     Region          161..329
                     /region_name="SPRY_PRY_TRIM7"
                     /note="PRY/SPRY domain in tripartite motif-binding protein
                     7 (TRIM7); cd13740"
                     /db_xref="CDD:293975"
     CDS             1..329
                     /gene="TRIM7"
                     /gene_synonym="GNIP; RNF90"
                     /coded_by="NM_203297.2:778..1767"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS43414.1"
                     /db_xref="GeneID:81786"
                     /db_xref="HGNC:HGNC:16278"
                     /db_xref="MIM:609315"
ORIGIN      
        1 mtqatgqmlc lhvqvplqll llgqkqmaae qekvgaefqa lraflveqeg rllgrleels
       61 revaqkqnen laqlgveitq lsklssqiqe taqkpdldfl qefkstlsrc snvpgpkptt
      121 vssemknkvw nvslktfvlk gmlkkfkedl rgelekeekv eltldpdtan prlilsldlk
      181 gvrlgeraqd lpnhpcrfdt ntrvlascgf ssgrhhweve vgskdgwafg varesvrrkg
      241 ltpftpeegv walqlnggqy wavtspersp lscghlsrvr valdlevgav sfyavedmrh
      301 lytfrvnfqe rvfplfsvcs tgtylriwp
//
LOCUS       NP_001181883             847 aa            linear   PRI 17-APR-2023
DEFINITION  matrin-3 isoform a [Homo sapiens].
ACCESSION   NP_001181883
VERSION     NP_001181883.1
DBSOURCE    REFSEQ: accession NM_001194954.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 847)
  AUTHORS   Malik AM, Wu JJ, Gillies CA, Doctrove QA, Li X, Huang H, Tank EHM,
            Shakkottai VG and Barmada S.
  TITLE     Neuronal activity regulates Matrin 3 abundance and function in a
            calcium-dependent manner through calpain-mediated cleavage and
            calmodulin binding
  JOURNAL   Proc Natl Acad Sci U S A 120 (15), e2206217120 (2023)
   PUBMED   37011198
  REMARK    GeneRIF: Neuronal activity regulates Matrin 3 abundance and
            function in a calcium-dependent manner through calpain-mediated
            cleavage and calmodulin binding.
REFERENCE   2  (residues 1 to 847)
  AUTHORS   Zeng X, Lei Y, Pan S, Sun J, He H, Xiao D, Jamal M, Shen H, Zhou F,
            Shao L and Zhang Q.
  TITLE     LncRNA15691 promotes T-ALL infiltration by upregulating CCR9 via
            increased MATR3 stability
  JOURNAL   J Leukoc Biol 113 (2), 203-215 (2023)
   PUBMED   36822174
  REMARK    GeneRIF: LncRNA15691 promotes T-ALL infiltration by upregulating
            CCR9 via increased MATR3 stability.
REFERENCE   3  (residues 1 to 847)
  AUTHORS   Salton M, Elkon R, Borodina T, Davydov A, Yaspo ML, Halperin E and
            Shiloh Y.
  TITLE     Matrin 3 binds and stabilizes mRNA
  JOURNAL   PLoS One 6 (8), e23882 (2011)
   PUBMED   21858232
  REMARK    GeneRIF: Data suggest that the cellular level of MATR3, known to be
            highly regulated, modulates the stability of a group of gene
            transcripts.
REFERENCE   4  (residues 1 to 847)
  AUTHORS   Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A,
            Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H,
            Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schoneborn S,
            Zerres K, Lochmuller H, Seboun E, Weis J, Beckmann JS, Hauser MA
            and Jackson CE.
  TITLE     Autosomal-dominant distal myopathy associated with a recurrent
            missense mutation in the gene encoding the nuclear matrix protein,
            matrin 3
  JOURNAL   Am J Hum Genet 84 (4), 511-518 (2009)
   PUBMED   19344878
  REMARK    GeneRIF: nonconservative S85C missense mutation in vocal cord and
            pharyngeal weakness with distal myopathy
REFERENCE   5  (residues 1 to 847)
  AUTHORS   Feit H, Silbergleit A, Schneider LB, Gutierrez JA, Fitoussi RP,
            Reyes C, Rouleau GA, Brais B, Jackson CE, Beckmann JS and Seboun E.
  TITLE     Vocal cord and pharyngeal weakness with autosomal dominant distal
            myopathy: clinical description and gene localization to 5q31
  JOURNAL   Am J Hum Genet 63 (6), 1732-1742 (1998)
   PUBMED   9837826
REFERENCE   6  (residues 1 to 847)
  AUTHORS   Okumara K, Nogami M, Matsushima Y, Matsumura K, Nakamura K, Taguchi
            H and Kitagawa Y.
  TITLE     Mapping of human DNA-binding nuclear protein (NP220) to chromosome
            band 2p13.1-p13.2 and its relation to matrin 3
  JOURNAL   Biosci Biotechnol Biochem 62 (8), 1640-1642 (1998)
   PUBMED   9757574
REFERENCE   7  (residues 1 to 847)
  AUTHORS   Bortolin ML and Kiss T.
  TITLE     Human U19 intron-encoded snoRNA is processed from a long primary
            transcript that possesses little potential for protein coding
  JOURNAL   RNA 4 (4), 445-454 (1998)
   PUBMED   9630250
REFERENCE   8  (residues 1 to 847)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301623
REFERENCE   9  (residues 1 to 847)
  AUTHORS   Belgrader P, Dey R and Berezney R.
  TITLE     Molecular cloning of matrin 3. A 125-kilodalton protein of the
            nuclear matrix contains an extensive acidic domain
  JOURNAL   J Biol Chem 266 (15), 9893-9899 (1991)
   PUBMED   2033075
REFERENCE   10 (residues 1 to 847)
  AUTHORS   Stuurman N, Meijne AM, van der Pol AJ, de Jong L, van Driel R and
            van Renswoude J.
  TITLE     The nuclear matrix from cells of different origin. Evidence for a
            common set of matrix proteins
  JOURNAL   J Biol Chem 265 (10), 5460-5465 (1990)
   PUBMED   2180926
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK307872.1, AC011404.6,
            AB018266.1, BX537365.1 and AA233906.1.
            
            Summary: This gene encodes a nuclear matrix protein, which is
            proposed to stabilize certain messenger RNA species. Mutations of
            this gene are associated with distal myopathy 2, which often
            includes vocal cord and pharyngeal weakness. Alternatively spliced
            transcript variants, including read-through transcripts composed of
            the upstream small nucleolar RNA host gene 4 (non-protein coding)
            and matrin 3 gene sequence, have been identified. Pseudogenes of
            this gene are located on chromosomes 1 and X. [provided by RefSeq,
            Aug 2013].
            
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1. Variants 1-4 encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853565.23755.1,
                                           SRR18074969.1350806.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            readthrough transcript :: includes exons from GeneID 724102
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..847
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     Protein         1..847
                     /product="matrin-3 isoform a"
                     /note="vocal cord and pharyngeal weakness with distal
                     myopathy"
                     /calculated_mol_wt=94493
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine. /evidence=ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            3
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            4
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            9
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            11
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            14
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            22
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            41
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            118
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            126
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Region          146..174
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P43243.2)"
     Site            150
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            157
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            158
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            164
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Region          187..214
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P43243.2)"
     Site            188
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:17924679, ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18318008, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P43243.2)"
     Site            195
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            202
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            206
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P43243.2)"
     Site            208
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P43243.2)"
     Site            211
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            219
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            234
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            264
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            275
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Region          288..322
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     Region          342..394
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P43243.2)"
     Region          398..473
                     /region_name="RRM1_MATR3"
                     /note="RNA recognition motif 1 (RRM1) found in vertebrate
                     matrin-3; cd12714"
                     /db_xref="CDD:410113"
     Region          496..575
                     /region_name="RRM2_MATR3"
                     /note="RNA recognition motif 2 (RRM2) found in vertebrate
                     matrin-3; cd12715"
                     /db_xref="CDD:410114"
     Site            509
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            511
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            522
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            533
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Region          <567..772
                     /region_name="MDN1"
                     /note="Midasin, AAA ATPase with vWA domain, involved in
                     ribosome maturation [Translation, ribosomal structure and
                     biogenesis]; COG5271"
                     /db_xref="CDD:227596"
     Site            571
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Region          588..786
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P43243.2)"
     Site            596
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            598
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P43243.2)"
     Site            604
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P43243.2)"
     Site            606
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            654
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            671
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            673
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            674
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            679
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            689
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Region          710..718
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P43243.2)"
     Site            741
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            747
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            759
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P43244; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     Site            766
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P43243.2)"
     Region          798..833
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     Site            836
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P43243.2)"
     CDS             1..847
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /coded_by="NM_001194954.2:348..2891"
                     /note="isoform a is encoded by transcript variant 3"
                     /db_xref="GeneID:9782"
                     /db_xref="HGNC:HGNC:6912"
                     /db_xref="MIM:164015"
ORIGIN      
        1 msksfqqssl srdsqghgrd lsaagiglla aatqslsmpa slgrmnqgta rlaslmnlgm
       61 ssslnqqgah salssastss hnlqsifnig srgplplssq hrgdadqasn ilasfglsar
      121 dldelsrype dkitpenlpq illqlkrrrt eegptlsygr dgrsatrepp yrvprddwee
      181 krhfrrdsfd drgpslnpvl dydhgsrsqe sgyydrmdye ddrlrdgerc rddsffgets
      241 hnyhkfdsey ermgrgpgpl qerslfekkr gappssnied fhgllpkgyp hlcsicdlpv
      301 hsnkewsqhi ngashsrrcq llleiypewn pdndtghtmg dpfmlqqstn papgilgppp
      361 psfhlggpav gprgnlgagn gnlqgprhmq kgrvetsrvv himdfqrgkn lryqllqlve
      421 pfgvisnhli lnkineafie mattedaqaa vdyytttpal vfgkpvrvhl sqkykrikkp
      481 egkpdqkfdq kqelgrvihl snlphsgysd savlklaepy gkiknyilmr mksqafieme
      541 tredamamvd hclkkalwfq grcvkvdlse kykklvlrip nrgidllkkd ksrkrsyspd
      601 gkespsdkks ktdgsqktes stegkeqeek sgedgekdtk ddqteqepnm llesedellv
      661 deeeaaalle sgssvgdetd lanlgdvasd gkkepsdkav kkdgsasaaa kkklkkvdki
      721 eeldqeneaa lengikneen tepgaessen addpnkdtse nadgqsdenk ddytipdeyr
      781 igpyqpnvpv gidyvipktg fycklcslfy tneevaknth csslphyqkl kkflnklaee
      841 rrqkket
//
LOCUS       NP_001271306             140 aa            linear   PRI 18-DEC-2022
DEFINITION  COMM domain-containing protein 4 isoform 2 [Homo sapiens].
ACCESSION   NP_001271306 XP_005254570
VERSION     NP_001271306.1
DBSOURCE    REFSEQ: accession NM_001284377.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 140)
  AUTHORS   Suraweera A, Gandhi NS, Beard S, Burgess JT, Croft LV, Bolderson E,
            Naqi A, Ashton NW, Adams MN, Savage KI, Zhang SD, O'Byrne KJ and
            Richard DJ.
  TITLE     COMMD4 functions with the histone H2A-H2B dimer for the timely
            repair of DNA double-strand breaks
  JOURNAL   Commun Biol 4 (1), 484 (2021)
   PUBMED   33875784
  REMARK    GeneRIF: COMMD4 functions with the histone H2A-H2B dimer for the
            timely repair of DNA double-strand breaks.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 140)
  AUTHORS   Suraweera A, Duff A, Adams MN, Jekimovs C, Duijf PHG, Liu C,
            McTaggart M, Beard S, O'Byrne KJ and Richard DJ.
  TITLE     Defining COMMD4 as an anti-cancer therapeutic target and prognostic
            factor in non-small cell lung cancer
  JOURNAL   Br J Cancer 123 (4), 591-603 (2020)
   PUBMED   32439936
  REMARK    GeneRIF: Defining COMMD4 as an anti-cancer therapeutic target and
            prognostic factor in non-small cell lung cancer.
            Erratum:[Br J Cancer. 2021 Jan 26;:. PMID: 33500542]
REFERENCE   3  (residues 1 to 140)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 140)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 140)
  AUTHORS   Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA,
            Weisswange I, Mansfeld J, Buchholz F, Hyman AA and Mann M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   6  (residues 1 to 140)
  AUTHORS   Phillips-Krawczak CA, Singla A, Starokadomskyy P, Deng Z, Osborne
            DG, Li H, Dick CJ, Gomez TS, Koenecke M, Zhang JS, Dai H,
            Sifuentes-Dominguez LF, Geng LN, Kaufmann SH, Hein MY, Wallis M,
            McGaughran J, Gecz J, Sluis Bv, Billadeau DD and Burstein E.
  TITLE     COMMD1 is linked to the WASH complex and regulates endosomal
            trafficking of the copper transporter ATP7A
  JOURNAL   Mol Biol Cell 26 (1), 91-103 (2015)
   PUBMED   25355947
REFERENCE   7  (residues 1 to 140)
  AUTHORS   Starokadomskyy P, Gluck N, Li H, Chen B, Wallis M, Maine GN, Mao X,
            Zaidi IW, Hein MY, McDonald FJ, Lenzner S, Zecha A, Ropers HH, Kuss
            AW, McGaughran J, Gecz J and Burstein E.
  TITLE     CCDC22 deficiency in humans blunts activation of proinflammatory
            NF-kappaB signaling
  JOURNAL   J Clin Invest 123 (5), 2244-2256 (2013)
   PUBMED   23563313
REFERENCE   8  (residues 1 to 140)
  AUTHORS   Mao X, Gluck N, Chen B, Starokadomskyy P, Li H, Maine GN and
            Burstein E.
  TITLE     COMMD1 (copper metabolism MURR1 domain-containing protein 1)
            regulates Cullin RING ligases by preventing CAND1
            (Cullin-associated Nedd8-dissociated protein 1) binding
  JOURNAL   J Biol Chem 286 (37), 32355-32365 (2011)
   PUBMED   21778237
REFERENCE   9  (residues 1 to 140)
  AUTHORS   Uys GM, Ramburan A, Loos B, Kinnear CJ, Korkie LJ, Mouton J,
            Riedemann J and Moolman-Smook JC.
  TITLE     Myomegalin is a novel A-kinase anchoring protein involved in the
            phosphorylation of cardiac myosin binding protein C
  JOURNAL   BMC Cell Biol 12, 18 (2011)
   PUBMED   21569246
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 140)
  AUTHORS   Burstein E, Hoberg JE, Wilkinson AS, Rumble JM, Csomos RA, Komarck
            CM, Maine GN, Wilkinson JC, Mayo MW and Duckett CS.
  TITLE     COMMD proteins, a novel family of structural and functional
            homologs of MURR1
  JOURNAL   J Biol Chem 280 (23), 22222-22232 (2005)
   PUBMED   15799966
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK000459.1.
            On Oct 1, 2013 this sequence version replaced XP_005254570.1.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 3' coding region, compared to variant 1. The encoded
            isoform (2) is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK000459.1, SRR1163657.554205.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..140
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.2"
     Protein         1..140
                     /product="COMM domain-containing protein 4 isoform 2"
                     /note="COMM domain-containing protein 4"
                     /calculated_mol_wt=15327
     Region          25..>127
                     /region_name="Commd"
                     /note="COMM_Domain, a family of domains found at the
                     C-terminus of HCarG, the copper metabolism gene MURR1
                     product, and related proteins. Presumably all COMM_Domain
                     containing proteins are located in the nucleus and the
                     COMM domain plays a role in...; cl06336"
                     /db_xref="CDD:446965"
     CDS             1..140
                     /gene="COMMD4"
                     /coded_by="NM_001284377.2:28..450"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS66834.1"
                     /db_xref="GeneID:54939"
                     /db_xref="HGNC:HGNC:26027"
                     /db_xref="MIM:616701"
ORIGIN      
        1 mrfrfcgdld cpdwvlaeis tlakmssvkl rllcsqvlke llgqgidyek ilkltadakf
       61 esgdvkatva vlsfilssaa khsvdgesls selqqlglpk ehaaslcrcy eekqsplqkh
      121 lrvcslrklk qaqtlmsslg
//
LOCUS       NP_001305712             115 aa            linear   PRI 24-DEC-2022
DEFINITION  LYR motif-containing protein 4 isoform 5 [Homo sapiens].
ACCESSION   NP_001305712
VERSION     NP_001305712.1
DBSOURCE    REFSEQ: accession NM_001318783.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 115)
  AUTHORS   Freibert SA, Boniecki MT, Stumpfig C, Schulz V, Krapoth N, Winge
            DR, Muhlenhoff U, Stehling O, Cygler M and Lill R.
  TITLE     N-terminal tyrosine of ISCU2 triggers [2Fe-2S] cluster synthesis by
            ISCU2 dimerization
  JOURNAL   Nat Commun 12 (1), 6902 (2021)
   PUBMED   34824239
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 115)
  AUTHORS   Herrera MG, Noguera ME, Sewell KE, Agudelo Suarez WA, Capece L,
            Klinke S and Santos J.
  TITLE     Structure of the Human ACP-ISD11 Heterodimer
  JOURNAL   Biochemistry 58 (46), 4596-4609 (2019)
   PUBMED   31664822
  REMARK    GeneRIF: In this work, the structure of the human mitochondrial
            ACP-ISD11 heterodimer was determined at 2.0 A resolution.
REFERENCE   3  (residues 1 to 115)
  AUTHORS   Fox NG, Yu X, Feng X, Bailey HJ, Martelli A, Nabhan JF,
            Strain-Damerell C, Bulawa C, Yue WW and Han S.
  TITLE     Structure of the human frataxin-bound iron-sulfur cluster assembly
            complex provides insight into its activation mechanism
  JOURNAL   Nat Commun 10 (1), 2210 (2019)
   PUBMED   31101807
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 115)
  AUTHORS   Cai K, Frederick RO, Dashti H and Markley JL.
  TITLE     Architectural Features of Human Mitochondrial Cysteine Desulfurase
            Complexes from Crosslinking Mass Spectrometry and Small-Angle X-Ray
            Scattering
  JOURNAL   Structure 26 (8), 1127-1136 (2018)
   PUBMED   29983374
  REMARK    GeneRIF: The molecular structure of the human mitochondrial
            cysteine desulfurase complex consisting of two copies each of NFS1,
            ISD11, and acyl carrier protein has been described.
REFERENCE   5  (residues 1 to 115)
  AUTHORS   Boniecki MT, Freibert SA, Muhlenhoff U, Lill R and Cygler M.
  TITLE     Structure and functional dynamics of the mitochondrial Fe/S cluster
            synthesis complex
  JOURNAL   Nat Commun 8 (1), 1287 (2017)
   PUBMED   29097656
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 115)
  AUTHORS   Anderson CA, Massey DC, Barrett JC, Prescott NJ, Tremelling M,
            Fisher SA, Gwilliam R, Jacob J, Nimmo ER, Drummond H, Lees CW,
            Onnie CM, Hanson C, Blaszczyk K, Ravindrarajah R, Hunt S, Varma D,
            Hammond N, Lewis G, Attlesey H, Watkins N, Ouwehand W, Strachan D,
            McArdle W, Lewis CM, Lobo A, Sanderson J, Jewell DP, Deloukas P,
            Mansfield JC, Mathew CG, Satsangi J and Parkes M.
  CONSRTM   Wellcome Trust Case Control Consortium
  TITLE     Investigation of Crohn's disease risk loci in ulcerative colitis
            further defines their molecular relationship
  JOURNAL   Gastroenterology 136 (2), 523-9 (2009)
   PUBMED   19068216
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 115)
  AUTHORS   Marelja Z, Stocklein W, Nimtz M and Leimkuhler S.
  TITLE     A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur
            donor for MOCS3, a protein involved in molybdenum cofactor
            biosynthesis
  JOURNAL   J Biol Chem 283 (37), 25178-25185 (2008)
   PUBMED   18650437
REFERENCE   8  (residues 1 to 115)
  AUTHORS   Shan Y, Napoli E and Cortopassi G.
  TITLE     Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU
            complex and multiple mitochondrial chaperones
  JOURNAL   Hum Mol Genet 16 (8), 929-941 (2007)
   PUBMED   17331979
  REMARK    GeneRIF: Frataxin interacts with ISD11 and multiple mitochondrial
            chaperones.
REFERENCE   9  (residues 1 to 115)
  AUTHORS   Adam AC, Bornhovd C, Prokisch H, Neupert W and Hell K.
  TITLE     The Nfs1 interacting protein Isd11 has an essential role in Fe/S
            cluster biogenesis in mitochondria
  JOURNAL   EMBO J 25 (1), 174-183 (2006)
   PUBMED   16341090
REFERENCE   10 (residues 1 to 115)
  AUTHORS   Lai CH, Chiu JY and Lin W.
  TITLE     Identification of the human crooked neck gene by comparative gene
            identification
  JOURNAL   Biochim Biophys Acta 1517 (3), 449-454 (2001)
   PUBMED   11342225
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY168919.1, AL121978.5 and
            DA114665.1.
            
            Summary: The protein encoded by this gene is found in both
            mitochondria and the nucleus, where it binds cysteine desulfurase
            and helps free inorganic sulfur for Fe/S clusters. Disruption of
            this gene negatively impacts mitochondrial and cytosolic iron
            homeostasis. [provided by RefSeq, Sep 2016].
            
            Transcript Variant: This variant (7) contains an alternate 3'
            coding region and 3' UTR compared to variant 1. The encoded isoform
            (5) has a distinct, longer C-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA114665.1, SRR14038197.1528187.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..115
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.1"
     Protein         1..115
                     /product="LYR motif-containing protein 4 isoform 5"
                     /note="homolog of yeast Isd11; mitochondrial matrix Nfs1
                     interacting protein"
                     /calculated_mol_wt=12941
     Region          8..69
                     /region_name="Complex1_LYR_LYRM4"
                     /note="LYR (leucine-tyrosine-arginine) motif found in LYR
                     motif-containing protein 4 (LYRM4) and similar proteins;
                     cd20264"
                     /db_xref="CDD:380759"
     Site            order(9..10,35..36,39..40,43..44,52,55,62,66)
                     /site_type="other"
                     /note="phosphopantetheine binding site [chemical binding]"
                     /db_xref="CDD:380759"
     Site            order(10,13..14,17..18,26..28,30..31,34..35,37..38,41,44,
                     65,68..69)
                     /site_type="other"
                     /note="trimer interface [polypeptide binding]"
                     /db_xref="CDD:380759"
     CDS             1..115
                     /gene="LYRM4"
                     /gene_synonym="C6orf149; CGI-203; COXPD19; ISD11"
                     /coded_by="NM_001318783.1:218..565"
                     /note="isoform 5 is encoded by transcript variant 7"
                     /db_xref="GeneID:57128"
                     /db_xref="HGNC:HGNC:21365"
                     /db_xref="MIM:613311"
ORIGIN      
        1 maassraqvl slyramlres krfsaynyrt yavrrirdaf renknvkdpv eiqtlvnkak
       61 rdlgvirrqc plsngiksrt qglqqrqhav gpgcaiwkgc gveepslkim ghlnl
//
LOCUS       NP_001309055             147 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger protein 160 isoform c [Homo sapiens].
ACCESSION   NP_001309055 XP_011525768
VERSION     NP_001309055.1
DBSOURCE    REFSEQ: accession NM_001322126.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 147)
  AUTHORS   Takahashi K, Sugi Y, Hosono A and Kaminogawa S.
  TITLE     Epigenetic regulation of TLR4 gene expression in intestinal
            epithelial cells for the maintenance of intestinal homeostasis
  JOURNAL   J Immunol 183 (10), 6522-6529 (2009)
   PUBMED   19846881
  REMARK    GeneRIF: TLR4 gene transcription was repressed by epigenetic
            regulations, which were, at least in part, dependent on ZNF160.
REFERENCE   2  (residues 1 to 147)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   3  (residues 1 to 147)
  AUTHORS   Mark C, Looman C, Abrink M and Hellman L.
  TITLE     Molecular cloning and preliminary functional analysis of two novel
            human KRAB zinc finger proteins, HKr18 and HKr19
  JOURNAL   DNA Cell Biol 20 (5), 275-286 (2001)
   PUBMED   11410164
REFERENCE   4  (residues 1 to 147)
  AUTHORS   Hattori A, Okumura K, Nagase T, Kikuno R, Hirosawa M and Ohara O.
  TITLE     Characterization of long cDNA clones from human adult spleen
  JOURNAL   DNA Res 7 (6), 357-366 (2000)
   PUBMED   11214971
REFERENCE   5  (residues 1 to 147)
  AUTHORS   Abrink M, Aveskogh M and Hellman L.
  TITLE     Isolation of cDNA clones for 42 different Kruppel-related zinc
            finger proteins expressed in the human monoblast cell line U-937
  JOURNAL   DNA Cell Biol 14 (2), 125-136 (1995)
   PUBMED   7865130
REFERENCE   6  (residues 1 to 147)
  AUTHORS   Halford S, Mattei MG, Daw S and Scambler PJ.
  TITLE     A novel C2H2 zinc-finger protein gene (ZNF160) maps to human
            chromosome 19q13.3-q13.4
  JOURNAL   Genomics 25 (1), 322-323 (1995)
   PUBMED   7774943
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010328.4 and BC000807.1.
            On Apr 6, 2016 this sequence version replaced XP_011525768.1.
            
            Summary: The protein encoded by this gene is a Kruppel-related zinc
            finger protein which is characterized by the presence of an
            N-terminal repressor domain, the Kruppel-associated box (KRAB). The
            KRAB domain is a potent repressor of transcription; thus this
            protein may function in transcription regulation. Multiple
            transcript variants have been found for this gene. [provided by
            RefSeq, Apr 2016].
            
            Transcript Variant: This variant (17) and variant 16 both encode
            isoform c.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC000807.1, BE540472.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146236, SAMEA2147920
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..147
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41-q13.42"
     Protein         1..147
                     /product="zinc finger protein 160 isoform c"
                     /note="KRAB zinc finger protein KR18; zinc finger protein
                     5; zinc finger protein Kr18; zinc finger protein HZF5"
                     /calculated_mol_wt=16981
     Region          8..68
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     CDS             1..147
                     /gene="ZNF160"
                     /gene_synonym="F11; HKr18; HZF5; KR18"
                     /coded_by="NM_001322126.2:429..872"
                     /note="isoform c is encoded by transcript variant 17"
                     /db_xref="CCDS:CCDS82392.1"
                     /db_xref="GeneID:90338"
                     /db_xref="HGNC:HGNC:12948"
                     /db_xref="MIM:600398"
ORIGIN      
        1 maltqvrltf rdvaiefsqe ewkcldpaqr ilyrdvmlen ywnlvslglc hfdmniisml
       61 eegkepwtvk scvkiarkpr tpecvkgvvt dllrrwkhwl lllgiccpkp hgrvssrlrl
      121 srslghffhs afatfmgvcd krvgsif
//
LOCUS       XP_047281312            1564 aa            linear   PRI 20-MAR-2023
DEFINITION  myosin-IIIa isoform X5 [Homo sapiens].
ACCESSION   XP_047281312
VERSION     XP_047281312.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425356.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1564
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1564
                     /product="myosin-IIIa isoform X5"
                     /calculated_mol_wt=180074
     Region          2..266
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(27..30,33,35,48,50,79,100..103,150,154..155,157,
                     167..168)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     Region          300..989
                     /region_name="MYSc_Myo3"
                     /note="class III myosin, motor domain; cd01379"
                     /db_xref="CDD:276830"
     Site            order(327..335,379..386,424..434,665..670)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276830"
     Site            327..335
                     /site_type="other"
                     /note="purine-binding loop"
                     /db_xref="CDD:276830"
     Site            379..386
                     /site_type="other"
                     /note="P-loop"
                     /db_xref="CDD:276830"
     Site            424..434
                     /site_type="other"
                     /note="switch I region"
                     /db_xref="CDD:276830"
     Site            665..670
                     /site_type="other"
                     /note="switch II region"
                     /db_xref="CDD:276830"
     Site            order(694..705,708..717)
                     /site_type="active"
                     /note="relay loop [active]"
                     /db_xref="CDD:276830"
     Site            924..933
                     /site_type="other"
                     /note="SH1 helix"
                     /db_xref="CDD:276830"
     Site            order(936..962,964..989)
                     /site_type="other"
                     /note="converter subdomain"
                     /db_xref="CDD:276830"
     Region          1357..1404
                     /region_name="MBD_Myo3a"
                     /note="MORN4 binding domain (MBD) found in Myosin-IIIa and
                     similar proteins; cd21956"
                     /db_xref="CDD:439318"
     Site            order(1366,1369,1372..1374,1376..1381,1383..1385,
                     1387..1388,1390..1391,1393..1398,1402..1404)
                     /site_type="other"
                     /note="MORN4 binding site [polypeptide binding]"
                     /db_xref="CDD:439318"
     CDS             1..1564
                     /gene="MYO3A"
                     /gene_synonym="DFNB30"
                     /coded_by="XM_047425356.1:141..4835"
                     /db_xref="GeneID:53904"
                     /db_xref="HGNC:HGNC:7601"
                     /db_xref="MIM:606808"
ORIGIN      
        1 mfpligktii fdnfpdpsdt weitetigkg tygkvfkvln kkngqkaavk ildpihdide
       61 eieaeynilk alsdhpnvvr fygiyfkkdk vngdklwlvl elcsggsvtd lvkgflkrge
      121 rmsepliayi lhealmglqh lhnnktihrd vkgnnilltt eggvklvdfg vsaqltstrh
      181 rrntsvgtpf wmapeviace qqldttydar cdtwslgita ielgdgdppl adlhpmralf
      241 kiprnpppkl rqpelwsaef ndfiskreri htkkgnfnrp lisnlkdvdd latleilden
      301 tvseqlekcy srdqiyvyvg dilialnpfq slglystkhs klyigskrta spphifamad
      361 lgyqsmityn sdqcivisge sgagktenah llvqqltvlg kannrtlqek ilqvnnlvea
      421 fgnactiind nssrfgkyle mkftssgavv gaqiseylle ksrvihqaig eknfhifyyi
      481 yaglaekkkl ahyklpenkp prylqndhlr tvqdimnnsf yksqyelieq cfkvigftme
      541 qlgsiysila ailnvgnief ssvatehqid kshisnhtal encasllcir adelqealts
      601 hcvvtrgeti irpntvekat dvrdamaktl ygrlfswivn cinsllkhds spsgngdels
      661 igildifgfe nfkknsfeql cinianeqiq yyynqhvfaw eqneylnedv darvieyedn
      721 wplldmflqk pmgllsllde esrfpkatdq tlvekfegnl ksqyfwrpkr melsfgihhy
      781 agkvlynasg flaknrdtlp tdivlllrss dnsvirqlvn hpltktgnlp hsktknviny
      841 qmrtseklin lakgdtgeat rharettnmk tqtvasyfry slmdllskmv vgqphfvrci
      901 kpnserqark ydkekvllql rytgiletar irrlgfshri lfanfikryy llcyksseep
      961 rmspdtcati lekagldnwa lgktkvflky yhveqlnlmr keaidklili qacvraflcs
     1021 rryqkiqekr kesaiiiqsa arghlvrkqr keivdmknta vttiqtsdqe fdykknfent
     1081 resfvkkqae naisanerfi sapnnkgsvs vvktstfkpe eettnavesn nrvyqtpkkm
     1141 nnvyeeevkq efylvgpevs pkqksvkdle ensnlrkvek eeamiqsyyq ryteerncee
     1201 skaaylerka iserpsypvp wlaenetsfk ktleptlsqr siyqnansme kekktsvvtq
     1261 rapicsqeeg rgrlrhetvk erqvepvtqa qeeedkaavf iqskyrgykr rqqlrkdkms
     1321 sfkhqrivtt ptevarnthn lysyptkhee innikkkdnk dskatserea cglaifskqi
     1381 sklseeyfil qkklnemils qqlkslylgv shhkpinrrv ssqqclsgvc kgeepkilrp
     1441 prrprkpktl nnpedstyyy llhksiqeek rrprkdsqgk lldledfyyk eflpsrsgpk
     1501 ehspslrerr pqqelqnqci kanercwaae spekeeerep aanpydfrrl lrktsqrrrl
     1561 vqqs
//
LOCUS       XP_024305166             189 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C13orf42 isoform X1 [Homo sapiens].
ACCESSION   XP_024305166
VERSION     XP_024305166.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024449398.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..189
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..189
                     /product="uncharacterized protein C13orf42 isoform X1"
                     /calculated_mol_wt=21755
     CDS             1..189
                     /gene="C13orf42"
                     /gene_synonym="LINC00371; LINC00372"
                     /coded_by="XM_024449398.2:116..685"
                     /db_xref="GeneID:647166"
                     /db_xref="HGNC:HGNC:42693"
ORIGIN      
        1 mekatpkkys qfsadvaeai affdsiiael dterrpraae aslpnedvdf dvatssrehs
       61 lhsnwilrap rrhsediaah tvhtvdgqfr rstehrtvgt qrrlerhpiy lpkavegafn
      121 twkfkpkack kdlgssrqil fnfsgedmew daelfalepq lspgedyyet enpkgqwllr
      181 erlwertvp
//
LOCUS       XP_047293476             528 aa            linear   PRI 20-MAR-2023
DEFINITION  methyl-CpG-binding domain protein 1 isoform X17 [Homo sapiens].
ACCESSION   XP_047293476
VERSION     XP_047293476.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437520.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..528
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..528
                     /product="methyl-CpG-binding domain protein 1 isoform X17"
                     /calculated_mol_wt=58046
     Region          3..76
                     /region_name="MBD"
                     /note="Methyl-CpG binding domain; smart00391"
                     /db_xref="CDD:128673"
     Site            order(18,20,22,30,32,41,44,48)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238690"
     Region          168..215
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     Region          217..262
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     CDS             1..528
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /coded_by="XM_047437520.1:187..1773"
                     /db_xref="GeneID:4152"
                     /db_xref="HGNC:HGNC:6916"
                     /db_xref="MIM:156535"
ORIGIN      
        1 maedwldcpa lgpgwkrrev frksgatcgr sdtyyqsptg drirskvelt rylgpacdlt
       61 lfdfkqgilc ypapkahpva vaskkrkkps rpaktrkrqv gpqsgevrke aprdetkadt
      121 dtapasfpap gccencgisf sgdgtqrqrl ktlckdcraq riafnreqrm fkrvgcgeca
      181 acqvtedcga cstcllqlph dvasglfckc errrclrive rsrgcgvcrg cqtqedcghc
      241 piclrpprpg lrrqwkcvqr rclrhlahrl rrrhqrcqrr tplavapptg kharrkggcd
      301 skmaarrrpg aqplppppps qspeptephp ralapsppae fiyycvdede lkrllpsvws
      361 esedgagspp pyrrrkrpss arrhhlgptl kptlatrtaq pdhtqaptkq eagggfvlpp
      421 pgtdlvflre gasspvqvpg pvaasteall qavdpglpsv kqeppdpeed keenkddsas
      481 klapeeeagg agtpviteif slggtrfrdt avwlprskdl kkpgarkq
//
LOCUS       XP_016883694              58 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC102723553 isoform X1 [Homo sapiens].
ACCESSION   XP_016883694
VERSION     XP_016883694.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017028205.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..58
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..58
                     /product="uncharacterized protein LOC102723553 isoform X1"
                     /calculated_mol_wt=6755
     Region          4..53
                     /region_name="FAM165"
                     /note="FAM165 family; pfam14981"
                     /db_xref="CDD:317404"
     CDS             1..58
                     /gene="LOC102723553"
                     /gene_synonym="SMIM11B"
                     /coded_by="XM_017028205.2:442..618"
                     /db_xref="GeneID:102723553"
ORIGIN      
        1 mnwkvlehvp lllyilaakt lilcltfagv kmyqrkrlea kqqkleaerk kqsekkdn
//
LOCUS       XP_047303816            1195 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and BTB domain-containing protein 38 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047303816
VERSION     XP_047303816.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447860.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1195
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1195
                     /product="zinc finger and BTB domain-containing protein 38
                     isoform X4"
                     /calculated_mol_wt=134127
     Region          15..128
                     /region_name="BTB_POZ_ZBTB38_CIBZ"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in zinc finger and
                     BTB domain-containing protein 38 (ZBTB38); cd18223"
                     /db_xref="CDD:349532"
     Region          <332..402
                     /region_name="zf-C2H2_8"
                     /note="C2H2-type zinc ribbon; pfam15909"
                     /db_xref="CDD:435011"
     Region          344..364
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          373..392
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          462..482
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(467,469,471,473..474,477..478,481,495,497,501..502,
                     505..506,509,523,525,527,529..530,533..534)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          490..510
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          518..536
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1012..1032
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1017,1019,1021,1023..1024,1027..1028,1031,1045,1047,
                     1051..1052,1055..1056,1059,1073,1075,1077,1079..1080,
                     1083..1084,1087)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          1025..1048
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          1038..1060
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          1040..1060
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1068..1088
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1081..>1099
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          1096..1120
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..1195
                     /gene="ZBTB38"
                     /gene_synonym="CIBZ; PPP1R171; ZNF921"
                     /coded_by="XM_047447860.1:955..4542"
                     /db_xref="GeneID:253461"
                     /db_xref="HGNC:HGNC:26636"
                     /db_xref="MIM:612218"
ORIGIN      
        1 mtvmslsrdl kddfhsdtvl silneqrirg ilcdvtiive dtkfkahsnv laasslyfkn
       61 ifwshticis shvlelddlk aevfteilny iysstvvvkr qetvtdlaaa gkklgisfle
      121 dltdrnfsns pgpyvfcite kgvvkeekne krheepaitn gpritnafsi ietensnnmf
      181 spldlrasfk kvsdsmrtas lclertdvch eaepvrtlae hsyavssvae ayrsqpvreh
      241 dgsspgntgk encealaakp ktcrkpktfs ipqdsdsate nippppvsnl evnqerspqp
      301 aavltrsksp nnegdvhfsr edenqssdvp gppaaevppl vyncsccska fdsstllsah
      361 mqlhkptqep lvckycnkqf ttlnrldrhe qicmrsshmp ipggnqrfle nyptigqngg
      421 sftgpeplls enrigefsst gstlpdtdhm vkfvngqmly scvvckrsyv tlsslrrhan
      481 vhswrrtypc hycnkvfala eyrtrheiwh tgerryqcif cletfmtyyi lknhqksfha
      541 idhrlsiskk tangglkpsv ypyklyrllp mkckrapyks yrnssyenar ensqmnesap
      601 gtyvvqnphs selptlnfqd tvntltnspa ipletsacqd iptsanvqna egtkwgeeal
      661 kmdldnnfys tevsvssten avssdlragd vpvlslsnss enaasvisys gsapsvivhs
      721 sqfssvimhs naiaamtssn hrafsdpavs qslkddskpe pdkvgrfasr pksikekkkt
      781 tshtrgeipe esnyvadpgg slskttniae etskietyia kpalpgtstn snvaplcqit
      841 vkigneaivk rhilgsklfy krgrrpkyqm qeeplpqgnd pepsgdsplg lcqsecmems
      901 evfddasdqd stdkpwrpyy nykpkkksrq lkkmrkvnwr kehgnrspsh kckypaeldc
      961 avgkapqdkp feeeetkemp klqcelcdgd kavgagnqgr phrhltsrpy acelcakqfq
     1021 spstlkmhmr chtgekpyqc ktcgrcfsvq gnlqkherih lglkefvcqy cnkaftlnet
     1081 lkiherihtg ekryhcqfcf qrflylstkr nheqrhireh ngkgyacfqc pkicktaaal
     1141 gmhqkkhlfk spsqqekigd vchensnple nqhfigsedn dqkdniqtgv envvl
//
LOCUS       XP_047274661            2035 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 40 isoform X6 [Homo sapiens].
ACCESSION   XP_047274661
VERSION     XP_047274661.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418705.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2035
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..2035
                     /product="zinc finger protein 40 isoform X6"
                     /calculated_mol_wt=222934
     Region          417..437
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          430..454
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          445..465
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..2035
                     /gene="HIVEP1"
                     /gene_synonym="CIRIP; CRYBP1; GAAP; MBP-1; PRDII-BF1;
                     Schnurri-1; ZAS1; ZNF40; ZNF40A"
                     /coded_by="XM_047418705.1:924..7031"
                     /db_xref="GeneID:3096"
                     /db_xref="HGNC:HGNC:4920"
                     /db_xref="MIM:194540"
ORIGIN      
        1 mlswvpwrrv tglhgvalph gldkieeaqk elngaevskk eilqagvkgt seslkgvkrk
       61 kivaenhlkk ipksplrnpl qakhkqntee ssfavlhsas eshkkqnyip vkngkqftkq
      121 ngetpgiiae askseesvsp kkplflqqps elrrwrsega dpakfsdlde qcdssslssk
      181 trtdnsecis shcgttspsy tntafdvllk amepelstls qkgspcaikt eklrpnktar
      241 sppklknssm dapnqtsqel vaesqsscts ytvhmsaaqk neqgamqsas hlyhqhehfv
      301 pksnqhnqql pgcsgftgsl tnlqnqenak leqvyniavt ssvgltspss rsqvtpqnqq
      361 mdsasplsis panstqsppm piynsthvas vvnqsveqmc nlllkdqkpk kqgkyiceyc
      421 nracakpsvl lkhirshtge rpypcvtcgf sfktksnlyk hkkshahtik lglvlqpdag
      481 glflshespk alsihsdved sgeseeegat derqhdlgam elqpvhiikr msnaetllks
      541 sftpsspenv igdfllqdrs aesqavtelp kvvvhhvtvs plrtdspkam dpkpelssaq
      601 kqkdlqvtnv qplsanmsqg gvsrletnen shqkgdmnpl egkqdshvgt vhaqlqrqqa
      661 tdysqeqqgk llsprslgst dsgyfsrses adqtvspptp farrlpsteq dsgrsngpsa
      721 alvttstpsa lptgekalll pgqmrpplat ktleeriskl isdnealvdd kqldsvkprr
      781 tslsrrgsid spksyifkds fqfdlkpvgr rtssssdipk spftpteksk qvfllsvpsl
      841 dclpitrsns mpttgysavp aniippphpl rgsqsfddki gafyddvfvs gpnapvpqsg
      901 hprtlvrqaa iedssanesh vlgtgqslde shqgchaage amsvrskala qgphiekkks
      961 hqgrgtmfec etcrnryrkl enfenhkkfy cselhgpktk vamrepehsp vpgglqpqil
     1021 hyrvagssgi weqtpqirkr rkmksvgdde elqqnesgts pksseglqfq nalgcnpslp
     1081 khnvtirsdq qhkniqlqns hihlvargpe qtmdpklsti meqqissaaq dkielqrhgt
     1141 gisviqhtns lsrpnsfdkp epferaspvs fqelnrtgks gslkvigisq eeshpsrdgs
     1201 hphqlalsda lrgelqessr kspserhvlg qpsrlvrqhn iqvpeilvte epdrdleaqc
     1261 hdqeksekfs wpqrsetlsk lpteklppkk krlrlaeieh sstessfdst lsrslsress
     1321 lshtssfsas ldiedvskte aspkidflnk aeflmipagl ntlnvpgchr emrrtaseqi
     1381 nctqtsmevs dlrsksfdcg sitppqttpl telqppssps rvgvtghvpl lerrrgplvr
     1441 qislniapds hlspvhptsf qntalpsvna vpyqgpqlts tslaefsant lhsqtqvkdl
     1501 qaetsnssst nvfpvqqlcd inllnqihap pshqstqlsl qvstqgskpd knsvlsgssk
     1561 sedcfapkyq lhcqvftsgp scssnpvhsl pnqvisdpvg tdhcvtsatl ptklidsmsn
     1621 shpllppelr plgsqvqkvp ssfmlpirlq ssvpaycfat ltslpqilvt qdlpnqpicq
     1681 tnhsvvpise eqnsvptlqk ghqnalpnpe keflcenvfs emsqnsslse slpitqkisv
     1741 grlspqqess asskrmlspa nsldiamekh qkrakdenga vcatdvrple alssrvneas
     1801 kqkkpilvrq vcttepldgv mlekdvfsqp eisneavnlt nvlpadnsst gcskfvviep
     1861 iselqefeni ksstsltltv rsspapsent hisplkctdn nqerkspgvk nqgdkvniqe
     1921 qsqqpvtsls lfnikdtqql afpslktttn ftwcyllrqk slhlpqkdqk tsaytdwtvs
     1981 asnpnplglp tkvalallns kqntgkslyc qaitthsksd llvysskwks slski
//
LOCUS       XP_047278016            1585 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor B1 isoform X12 [Homo sapiens].
ACCESSION   XP_047278016
VERSION     XP_047278016.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422060.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1585
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1585
                     /product="adhesion G protein-coupled receptor B1 isoform
                     X12"
                     /calculated_mol_wt=173499
     Region          41..216
                     /region_name="AGRB_N"
                     /note="Adhesion GPCR B N-terminal region; pfam19188"
                     /db_xref="CDD:437033"
     Region          264..314
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          359..407
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          412..462
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          525..575
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          577..643
                     /region_name="HormR"
                     /note="Domain present in hormone receptors; smart00008"
                     /db_xref="CDD:214468"
     Region          661..859
                     /region_name="GAIN"
                     /note="GPCR-Autoproteolysis INducing (GAIN) domain;
                     pfam16489"
                     /db_xref="CDD:435371"
     Region          880..938
                     /region_name="GPS"
                     /note="G-protein-coupled receptor proteolytic site domain;
                     smart00303"
                     /db_xref="CDD:197639"
     Region          941..1207
                     /region_name="7tmB2_BAI1"
                     /note="brain-specific angiogenesis inhibitor 1, a group
                     VII adhesion GPCR, member of the class B2 family of
                     seven-transmembrane G protein-coupled receptors; cd15990"
                     /db_xref="CDD:320656"
     Region          946..971
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320656"
     Site            order(951,955,998,1001..1002,1005,1012,1019,1091..1092,
                     1094,1096,1150,1153,1166,1170)
                     /site_type="other"
                     /note="putative polypeptide ligand binding pocket
                     [polypeptide binding]"
                     /db_xref="CDD:320656"
     Region          981..1003
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320656"
     Region          1012..1040
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320656"
     Region          1050..1070
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320656"
     Region          1088..1117
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320656"
     Region          1131..1158
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320656"
     Region          1163..1188
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320656"
     CDS             1..1585
                     /gene="ADGRB1"
                     /gene_synonym="BAI1; GDAIF"
                     /coded_by="XM_047422060.1:676..5433"
                     /db_xref="GeneID:575"
                     /db_xref="HGNC:HGNC:943"
                     /db_xref="MIM:602682"
ORIGIN      
        1 mrgqaaapgp vwilapllll llllgrrara aagadagpgp epcatlvqgk ffgyfsaaav
       61 fpanasrcsw tlrnpdprry tlymkvakap vpcsgpgrvr tyqfdsfles trtylgvesf
      121 devlrlcdps aplaflqask qflqmrrqqp pqhdglrpra gppgptddfs veylvvgnrn
      181 psraacqmlc rwldaclags rsshpcgimq tpcaclggea ggpaagplap rgdvclrdav
      241 aggpenclts ltqdrgghga tggwklwslw gectrdcggg lqtrtrtclp apgvegggce
      301 gvleegrqcn reacgpagrt ssrsqslrst darrreelgd elqqfgfpap qtgdpaaeew
      361 spwsvcsstc gegwqtrtrf cvsssystqc sgplreqrlc nnsavcpvhg awdewspwsl
      421 csstcgrgfr drtrtcrppq fggnpcegpe kqtkfcnial cpgravdgnw newsswsacs
      481 ascsqgrqqr trecngpsyg gaecqghwve trdcflqqcp vdgkwqawas wgscsvtcga
      541 gsqrrervcs gpffggaacq gpqdeyrqcg tqrcpephei cdednfgavi wketpageva
      601 avrcprnatg lilrrcelde egiayweppt yircvsidyr niqmmtrehl akaqrglpge
      661 gvseviqtlv eisqdgtsys gdllstidvl rnmteifrra yysptpgdvq nfvqilsnll
      721 aeenrdkwee aqlagpnake lfrlvedfvd vigfrmkdlr dayqvtdnlv lsihklpasg
      781 atdisfpmkg wratgdwakv pedrvtvsks vfstgltead easvfvvgtv lyrnlgsfla
      841 lqrnttvlns kvisvtvkpp prslrtplei efahmyngtt nqtcilwdet dvpsssappq
      901 lgpwswrgcr tvpldalrtr clcdrlstfa ilaqlsadan mekatlpsvt livgcgvssl
      961 tllmlviiyv svwryirser svilinfcls iissnalili gqtqtrnkvv ctlvaaflhf
     1021 fflssfcwvl teawqsymav tghlrnrlir krflclgwgl palvvaisvg ftkakgystm
     1081 nycwlslegg llyafvgpaa avvlvnmvig ilvfnklvsk dgitdkklke ragaslwssc
     1141 vvlpllaltw msavlavtdr rsalfqilfa vfdslegfvi vmvhcilrre vqdavkcrvv
     1201 drqeegngds ggsfqnghaq lmtdfekdvd lacrsvlnkd iaacrtatit gtlkrpslpe
     1261 eeklklahak gpptnfnslp anvsklhlhg sprypggplp dfpnhsltlk rdkapkssfv
     1321 gdgdifkkld selsraqeka ldtsyvilpt atatlrpkpk eepkysihid qmpqtrlihl
     1381 stapeaslpa rsppsrqpps ggppeappaq pppppppppp ppqqplpppp nlepappslg
     1441 dpgepaahpg pstgpstkne nvatlsvssl errksryael dfekimhtrk rhqdmfqdln
     1501 rklqhaaekd kevlgpdskq pekqqtpnkr pweslrkahg tptwvkkele plqpsplelr
     1561 svewersgat iplvgqdiid lqtev
//
LOCUS       XP_006724911             541 aa            linear   PRI 20-MAR-2023
DEFINITION  P3 protein isoform X2 [Homo sapiens].
ACCESSION   XP_006724911
VERSION     XP_006724911.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006724848.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..541
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..541
                     /product="P3 protein isoform X2"
                     /calculated_mol_wt=57600
     Region          265..538
                     /region_name="SBF"
                     /note="Sodium Bile acid symporter family; cl19217"
                     /db_xref="CDD:450274"
     CDS             1..541
                     /gene="SLC10A3"
                     /gene_synonym="DXS253E; P3"
                     /coded_by="XM_006724848.4:190..1815"
                     /db_xref="GeneID:8273"
                     /db_xref="HGNC:HGNC:22979"
                     /db_xref="MIM:312090"
ORIGIN      
        1 mgwmapslsl lswfvsprwl qswclhlssc tlplpphwfs clplqrdspa ikedstglgp
       61 thepfsgqpn stsgdvllsr rgpghairpp gramvlmqdk gssqqwpglg gegggtgpls
      121 mlraalllis lpwgaqgtas tslstagght vpptggryls igdgsvmefe fpedsegiiv
      181 issqypgqan rtapgpmlrv tsldtevlti knlvdaheap ptlieerrdf cikvspaedt
      241 patlsadlah fsenpilyll lplifvnkcs fgckvelevl kglmqspqpm llgllgqflv
      301 mplyaflmak vfmlpkalal gliitcsspg gggsylfsll lggdvtlais mtflstvaat
      361 gflplssaiy srllsihetl hvpiskilgt llfiaipiav gvliksklpk fsqlllqvvk
      421 pfsfvlllgg lflayrmgvf ilagirlpiv lvgitvplvg llvgyclatc lklpvaqrrt
      481 vsievgvqns llalamlqls lrrlqadyas qapfivalsg tsemlalvig hfiysslfpv
      541 p
//
LOCUS       XP_016885466             273 aa            linear   PRI 20-MAR-2023
DEFINITION  choline-phosphate cytidylyltransferase B isoform X1 [Homo sapiens].
ACCESSION   XP_016885466
VERSION     XP_016885466.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029977.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 30% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..273
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..273
                     /product="choline-phosphate cytidylyltransferase B isoform
                     X1"
                     /calculated_mol_wt=31402
     Region          2..197
                     /region_name="PLN02413"
                     /note="choline-phosphate cytidylyltransferase"
                     /db_xref="CDD:215229"
     CDS             1..273
                     /gene="PCYT1B"
                     /gene_synonym="CCTB; CTB"
                     /coded_by="XM_017029977.2:651..1472"
                     /db_xref="GeneID:9468"
                     /db_xref="HGNC:HGNC:8755"
                     /db_xref="MIM:300948"
ORIGIN      
        1 mqaktlfpns yllvgvcsdd lthkfkgftv mneaeryeal rhcryvdevi rdapwtltpe
       61 flekhkidfv ahddipyssa gsddvykhik eagmfvptqr tegistsdii trivrdydvy
      121 arrnlqrgyt akelnvsfin ekryrfqnqv dkmkekvknv eerskefvnr veekshdliq
      181 kweeksrefi gnflelfgpd gawkqmfqer ssrmlqalsp kqspvssptr srspsrspsp
      241 tfswlplkts ppsspkaasa sissmsegde dek
//
LOCUS       XP_054186089             478 aa            linear   PRI 20-MAR-2023
DEFINITION  microtubule-associated protein tau isoform X12 [Homo sapiens].
ACCESSION   XP_054186089
VERSION     XP_054186089.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330114.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187663.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..478
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31-21.32"
     Protein         1..478
                     /product="microtubule-associated protein tau isoform X12"
                     /calculated_mol_wt=49658
     CDS             1..478
                     /gene="MAPT"
                     /gene_synonym="DDPAC; FTDP-17; MAPTL; MSTD; MTBT1; MTBT2;
                     PPND; PPP1R103; TAU; tau-40; Tau-PHF6"
                     /coded_by="XM_054330114.1:151..1587"
                     /db_xref="GeneID:4137"
                     /db_xref="HGNC:HGNC:6893"
                     /db_xref="MIM:157140"
ORIGIN      
        1 maeprqefev medhagtygl gdrkdqggyt mhqdqegdtd aglkesplqt ptedgseepg
       61 setsdakstp taeaeeagig dtpsledeaa ghvtqarmvs kskdgtgsdd kkaktstrss
      121 aktlknrpcl spkhptpgss dpliqpsspa vcpeppsspk hvssvtsrtg ssgakemklk
      181 gadgktkiat prgaappgqk gqanatripa ktppapktpp ssgeppksgd rsgysspgsp
      241 gtpgsrsrtp slptpptrep kkvavvrtpp kspssaksrl qtapvpmpdl knvkskigst
      301 enlkhqpggg kvqiinkkld lsnvqskcgs kdnikhvpgg gsvqivykpv dlskvtskcg
      361 slgnihhkpg ggqvevksek ldfkdrvqsk igsldnithv pgggnkkiet hkltfrenak
      421 aktdhgaeiv ykspvvsgdt sprhlsnvss tgsidmvdsp qlatladevs aslakqgl
//
LOCUS       XP_047299142             187 aa            linear   PRI 20-MAR-2023
DEFINITION  putative protein N-methyltransferase FAM86B2 isoform X8 [Homo
            sapiens].
ACCESSION   XP_047299142
VERSION     XP_047299142.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443186.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_018654717.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..187
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1-22"
     Protein         1..187
                     /product="putative protein N-methyltransferase FAM86B2
                     isoform X8"
                     /calculated_mol_wt=20516
     Region          6..98
                     /region_name="FAM86"
                     /note="Family of unknown function; pfam14904"
                     /db_xref="CDD:405574"
     CDS             1..187
                     /gene="FAM86B2"
                     /coded_by="XM_047443186.1:66..629"
                     /db_xref="GeneID:653333"
                     /db_xref="HGNC:HGNC:32222"
                     /db_xref="MIM:616123"
ORIGIN      
        1 mapeenagte lllqgferrf lavrtlrsfp wqsleaklrd ssysellrdi lqktvrhpvc
       61 vkhppsvkya wfflselikk heavhtepld klyevlaetl makestqghr syllssggsv
      121 tlskstaiis hgttglvtwd aalylaewai enpaalinrr avlprshrva grgpaeagcl
      181 pgaqags
//
LOCUS       XP_054188445             387 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptotagmin-8 isoform X1 [Homo sapiens].
ACCESSION   XP_054188445
VERSION     XP_054188445.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332470.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_021160004.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..387
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     Protein         1..387
                     /product="synaptotagmin-8 isoform X1"
                     /calculated_mol_wt=42302
     CDS             1..387
                     /gene="SYT8"
                     /coded_by="XM_054332470.1:89..1252"
                     /db_xref="GeneID:90019"
                     /db_xref="HGNC:HGNC:19264"
                     /db_xref="MIM:607719"
ORIGIN      
        1 mghppvspsa papagttaip glipdlvagt pwprwaliag alaagvllvs cllcaacccc
       61 rrhrkkprdk esvglgsarg tttthlvqpd vdglesspgd aqqwgclqls lefdfgsqei
      121 rvglrqaadl rpggtvdpya rvsvstqagh rhetkvhrgt lcpvfdetcc fhipqaelpg
      181 atlqvqlfnf krfsgheplg elrlplgtvd lqhvlehwyl lgppaatqpe qvgelcfslr
      241 yvpssgrltv vvlearglrp glaepyvkvq lmlnqrkwkk rktatkkgta apyfneaftf
      301 lvpfsqvqnv dlvlavwdrs lplrtepvgk vhlgarasgq plqhwadmla harrpiaqrh
      361 plrparevdr mlalqprlrl rlplphs
//
LOCUS       XP_054194973             586 aa            linear   PRI 20-MAR-2023
DEFINITION  ATPase family AAA domain-containing protein 3B isoform X1 [Homo
            sapiens].
ACCESSION   XP_054194973
VERSION     XP_054194973.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338998.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..586
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..586
                     /product="ATPase family AAA domain-containing protein 3B
                     isoform X1"
                     /calculated_mol_wt=66176
     CDS             1..586
                     /gene="ATAD3B"
                     /gene_synonym="AAA-TOB3; TOB3"
                     /coded_by="XM_054338998.1:121..1881"
                     /db_xref="GeneID:83858"
                     /db_xref="HGNC:HGNC:24007"
                     /db_xref="MIM:612317"
ORIGIN      
        1 mswlfgvnkg pkgegagppp plppaqpgae gggdrglgdr papkdkwsnf dptgleraak
       61 aarelehsry akealnlaqm qeqtlqleqq sklkeyeaav eqlkseqira qaeerrktls
      121 eetrqhqara qyqdklarqr yedqlkqqql lneenlrkqe esvqkqeamr ratveremel
      181 rhknemlrve teararakae renadiireq irlkasehrq tvlesirtag tlfgegfraf
      241 vtdrdkvtat vagltllavg vysaknatav tgrfiearlg kpslvretsr itvlealrhp
      301 iqvsrrllsr pqdvlegvvl spslearvrd iaiatrntkk nrglyrhill ygppgtgktl
      361 fakklalhsg mdyaimtggd vapmgregvt amhklfdwan tsrrglllfm deadaflrkr
      421 ateeiskdlr atlnaflyhm gqhsnkfmlv lasnlpeqfd cainsridvm vhfdlpqqee
      481 rerlvrlhfd ncvlkpateg krrlklaqfd ygrkcsevar ltegmsgrei aqlavswqat
      541 ayasedgvlt eammdtrvqd avqqhqqmmr wlkrgrpgpe deqpss
//
LOCUS       XP_054224137            1423 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology-like domain family B member 1 isoform X21 [Homo
            sapiens].
ACCESSION   XP_054224137
VERSION     XP_054224137.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368162.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1423
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1423
                     /product="pleckstrin homology-like domain family B member
                     1 isoform X21"
                     /calculated_mol_wt=156180
     CDS             1..1423
                     /gene="PHLDB1"
                     /gene_synonym="LL5A; LL5alpha"
                     /coded_by="XM_054368162.1:762..5033"
                     /db_xref="GeneID:23187"
                     /db_xref="HGNC:HGNC:23697"
                     /db_xref="MIM:612834"
ORIGIN      
        1 mcawrakaaa ertparpggp latamhrlgr grgrppgtqe lwslrtmdal nrnqigpgcq
       61 tqtmvqkgpl dlietgkglk vqtdkphlvs lgsgrlstai tllpleegrt vigsaardis
      121 lqgpglapeh cyienlrgtl tlypcgnact idglpvrqpt rltqgcmlcl gqstflrfnh
      181 paeakwmksm ipaggrapgp pyspvpaese slvngnhtpq tatrgpsaca shsslvssie
      241 kdlqeimdsl vleepgaagk kpaatsplsp manggrylls pptspgamsv gssyentspa
      301 fsplsspass gscashspsg qepgpsvppl vparsssyhl alqppqsrps garsesprls
      361 rkggherpps pglrglltds paatvlaear ratesprlgg qlpvvaisls eypasgalsq
      421 ptsipgspkf qppvpaprnk igtlqdrpps pfreppgser vlttspsrql vgrtfsdgla
      481 trtlqppesp rlgrrgldsm relpplspsl srralsplpt rttpdpklnr evaesprprr
      541 waahgasped fsltlgargr rtrspsptlg eslaphkgsf sgrlspaysl gsltgaspcq
      601 spcvqrklss gdlrvpvtre rknsiteisd neddlleyhr rqrqerlreq emerlerqrl
      661 etilnlcaey sradggpeag elpsigeata alalagrrps rglagasgrs seepgvatqr
      721 lwesmersde enlkeecsst estqqeheda pstklqgevl aleeeraqvl ghveqlkvrv
      781 keleqqlqes areaemeral lqgereaera llqkeqkavd qlqeklvale tgiqkerdke
      841 raelaagrrh learqalyae lqtqldncpe svreqlqeql rreaealete tklfedlefq
      901 qleresrvee erelagqgll rskaellrsi akrkerlail dsqagqiraq avqeserlar
      961 dknaslqllq kekekltvle rryhsltggr pfpkttstlk evyrskmdge atsplprtrs
     1021 gplpsssgss ssssqlsvat lgrspspksa lltqngtgsl prnlaatlqd ietkrqlalq
     1081 qkveslpaep lptddpagqq vieeqrrrla elkqkaaaea qcqwdalhga apfpagpsgf
     1141 pplmhhsilh hlpagrerge egehaydtls lessdsmets istggnsacs pdnmssasgl
     1201 dmgkieemek mlkeahaekn rlmesrerem elrrqaleee rrrreqverr lqsesarrqq
     1261 lvekevkmre kqfsqarplt rylpirkedf dlkthiessg hgvdtclhvv lsskvcrgyl
     1321 vkmggkiksw kkrwfvfdrl krtlsyyvdk hetklkgviy fqaieevyyd hlrsaakspn
     1381 paltfcvkth drlyymvaps aeamriwmdv ivtgaegytq fmn
//
LOCUS       XP_054224300             916 aa            linear   PRI 20-MAR-2023
DEFINITION  echinoderm microtubule-associated protein-like 3 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054224300
VERSION     XP_054224300.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368325.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..916
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..916
                     /product="echinoderm microtubule-associated protein-like 3
                     isoform X5"
                     /calculated_mol_wt=98074
     CDS             1..916
                     /gene="EML3"
                     /gene_synonym="ELP95; EMAP3; EMAP95"
                     /coded_by="XM_054368325.1:535..3285"
                     /db_xref="GeneID:256364"
                     /db_xref="HGNC:HGNC:26666"
                     /db_xref="MIM:618118"
ORIGIN      
        1 mvlpvfaeae taagrelcqv srlpcqkeal dplppspplw tsiqawgclk gavlpdtcdg
       61 parealqsls qrlrvqeqem elvkaalaea lrllrlqvpp sslqgsgtpa ppgdsslaap
      121 pglpptctps lvsrgtqtet evelksspgp pglsngppap qgaseepsgt qsegggssss
      181 gagspgppgi lrplqppqra dtprrnssss sspserprqk lsrkaissan llvrsgstes
      241 rggkdplssp ggpgsrrsny nlegisvkmf lrgrpitmyi psgirsleel psgpppetls
      301 ldwvygyrgr dsrsnlfvlr sgevvyfiac vvvlyrpggg pggpggggqr hyrghtdcvr
      361 clavhpdgvr vasgqtagvd kdgkplqpvv hiwdsetllk lqeiglgafe rgvgalafsa
      421 adqgaflcvv ddsnehmlsv wdcsrgmkla eikkykkpkf ipcfvflpdg diltgdsegn
      481 iltwgrspsd sktpgrggak etygivaqah ahegsifalc lrrdgtvlsg ggrdrrlvqw
      541 gpglvalqea eipehfgavr aiaeglgsel lvgttknall rgdlaqgfsp viqghtdelw
      601 glcthpsqnr fltcghdrql clwdgeshal awsidlketg lcadfhpsga vvavglntgr
      661 wlvldtetre ivsdvidgne qlsvvryspd glylaigshd nviyiysvss dgakssrfgr
      721 cmghssfith ldwskdgnfi msnsgdyeil ywdvaggckq lknryesrdr ewatytcvlg
      781 fhvyvpvrsc qgaephvrgp rqprdqrpih arrlaprlag rqgrqhlpva sagrwgrgag
      841 arhalsnplp vprllprrli aawrdrlarr rgpappcpsl aqspttrgrl fpgltsrhsr
      901 sriflegang apahtv
//
LOCUS       XP_054171997             463 aa            linear   PRI 20-MAR-2023
DEFINITION  keratin, type I cytoskeletal 15 isoform X1 [Homo sapiens].
ACCESSION   XP_054171997
VERSION     XP_054171997.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316022.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..463
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..463
                     /product="keratin, type I cytoskeletal 15 isoform X1"
                     /calculated_mol_wt=49871
     CDS             1..463
                     /gene="KRT15"
                     /gene_synonym="CK15; K15; K1CO"
                     /coded_by="XM_054316022.1:2877..4268"
                     /db_xref="GeneID:3866"
                     /db_xref="HGNC:HGNC:6421"
                     /db_xref="MIM:148030"
ORIGIN      
        1 mtttflqtss stfgggstrg gsllaggggf gggslsgggg srsisassar fvssgsgggy
       61 gggmrvcgfg ggagsvfggg fgggvgggfg ggfgggdggl lsgnekitmq nlndrlasyl
      121 dkvraleean adlevkihdw yqkqtpaspe cdysqyfkti eelrdkimat tidnsrvile
      181 idnarlaadd frlkyenela lrqgveadin glrrvldelt lartdlemqi eglneelayl
      241 kknheewvpp ilqemkefss qlagqvnvem daapgvdltr vlaemreqye amaeknrrdv
      301 eawffsktee lnkevasnte miqtskteit dlrrtmqele ielqsqlsmk aglenslaet
      361 ecryatqlqq iqgligglea qlselrceme aqnqeykmll diktrleqei atyrsllegq
      421 dakmagigir eassggggss snfhinvees vdgqvvsshk rei
//
LOCUS       XP_054173706            1195 aa            linear   PRI 20-MAR-2023
DEFINITION  myotubularin-related protein 4 isoform X2 [Homo sapiens].
ACCESSION   XP_054173706
VERSION     XP_054173706.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317731.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1195
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1195
                     /product="myotubularin-related protein 4 isoform X2"
                     /calculated_mol_wt=133167
     CDS             1..1195
                     /gene="MTMR4"
                     /gene_synonym="FYVE-DSP2; ZFYVE11"
                     /coded_by="XM_054317731.1:875..4462"
                     /db_xref="GeneID:9110"
                     /db_xref="HGNC:HGNC:7452"
                     /db_xref="MIM:603559"
ORIGIN      
        1 mgeegppsle yiqakdlfpp kelvkeeenl qvpftvlqge gveflgraad aliaisnyrl
       61 hikfkdsvin vplrmidsve srdmfqlhis ckdskvvrch fstfkqcqew lsrlsratar
      121 pakpedlfaf ayhawclglt eedqhthlcq pgehircrqe aelarmgfdv qnvwrvshin
      181 snyklcpsyp qkllvpvwit dkelenvasf rswkripvvv yrhlrngaai arcsqpeisw
      241 wgwrnaddey lvtsiakaca ldpgtratgg slstgnndts eacdadfdss ltacsggest
      301 aapqkllild arsytaavan rakgggcece eyypncevvf mgmanihair nsfqylravc
      361 sqmpdpsnwl salestkwlq hlsvmlkaav lvantvdreg rpvlvhcsdg wdrtpqival
      421 akilldpyyr tlegfqvlve sdwldfghkf gdrcghqenv edqneqcpvf lqwldsvhql
      481 lkqfpclfef neaflvklvq htysclygtf lannpcerek rniykrtcsv wallragnkn
      541 fhnflytpss dmvlhpvchv ralhlwtavy lpasspctlg eenmdlylsp vaqsqefsgr
      601 sldrlpktrs mddllsacdt sspltrtssd pnlnnhcqev rvglepwhsn pegsetsfvd
      661 sgvggpqqtv gevglppplp ssqkdylsnk pfkshkscsp sykllntavp remksntsdp
      721 eikvleetkg papdpsaqde lgrtldgige ppehcpetea vsalskvisn kcdgvcnfpe
      781 ssqnsptgtp qqaqpdsmlg vpskcvldhs lstvcnppsa acqtpldpst dflnqdpsgs
      841 vasishqeql ssvpdlthge edigkrgnnr ngqllenprf gkmplelvrk pisqsqisef
      901 sflgsnwdsf qgmvtsfpsg eatprrllsy gccskrpnsk qmratgpcfg gqwaqregvk
      961 spvcsshsng hctgpggknq mwlsshpkqv sstkpvplnc pspvpplyld ddglpfptdv
     1021 iqhrlrqiea gykqeveqlr rqvrelqmrl dirhccappa eppmdyeddf tclkesdgsd
     1081 tedfgsdhse dclseaswep vdkketevtr wvpdhmashc yncdcefwla krrhhcrncg
     1141 nvfcagcchl klpipdqqly dpvlvcnscy ehiqvsrare lmsqqlkkpi atass
//
LOCUS       XP_054202045            1366 aa            linear   PRI 20-MAR-2023
DEFINITION  target of Nesh-SH3 isoform X54 [Homo sapiens].
ACCESSION   XP_054202045
VERSION     XP_054202045.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346070.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1366
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1366
                     /product="target of Nesh-SH3 isoform X54"
                     /calculated_mol_wt=150407
     CDS             1..1366
                     /gene="ABI3BP"
                     /gene_synonym="NESHBP; TARSH"
                     /coded_by="XM_054346070.1:17..4117"
                     /db_xref="GeneID:25890"
                     /db_xref="HGNC:HGNC:17265"
                     /db_xref="MIM:606279"
ORIGIN      
        1 mrggkcnmls slgclllcgs itlalgnaqk lpkgkrpnlk vhinttsdsi llkflrpspn
       61 vkleglllgy gsnvspnqyf plpaegkfte aivdaepkyl ivvrpappps qkkscsgktr
      121 srkplqlvvg tltpssvfls wgflinphhd wtlpshcpnd rfytiryrek dkekkwifqi
      181 cpatetiven lkpntvyefg vkdnveggiw skifnhktvv gskkvngkiq stydqdhtvp
      241 ayvprklipi tiikqviqnv thkdsakspe kaplggvilv hliipglnet tvklpaslmf
      301 eisdalktql aknetlalpa esktpeveki sarpttvtpe tvprstkptt ssaldvsett
      361 lvlskrtpet lqtilipqfe lplstlapks lpefpeaktp fpfekprgtl assekpwivp
      421 takisedskv lqpqtatydv fsspttsdep eisdsytats drildsippk tsrtleqpra
      481 tlapsetpfv pqkleiftsp emqpttpapq qttsipstpk rrprpkpprt kperttsagt
      541 itpkiskspe ptwttpapgk tqfislkpki plspevthtk papepqtllp sqstigpetp
      601 gtkpsttlap rktkrpgrrp rprprpkttp spevpkskpa lepatiqpep lvpttaskps
      661 erpktthrpd apqiqpvsep vpfeteapsm tivpttdiep vtvrteatvt tlapktsqrt
      721 rtrrprpkhk ttprpetlqt kldfgpitpg tssapttttk rtrrphpkpk ttphpevpqt
      781 klapkqtpra ppkpktsprp ripqtqpvpk vpqrvtakpk tspspevsyt tpapkdvllp
      841 hkpypevsqs epvlqpvtfr feppkttiap letrgipfip mispspsqee lqttleetdq
      901 stqepfttki prttelaktt qaphrfyttv rprtsdkphi rpvlnrtttr ptrpkpsgmp
      961 sgngvgtgvk qaprpsgadr nvsvdsthpt kkpgtrrppl pprpthprrk plppnnvtgk
     1021 pgsagiissg pittpplrst prptgtpler ietdikqptv pasgeeleni tdfsssptre
     1081 tdplgkprfk gphvryiqkp dnspcsitds vkrfpkeeat egnatsppqn pptnltvvtv
     1141 egcpsfvild wekplndtvt eyevisreng sfsgknksiq mtnqtfstve nlkpntsyef
     1201 qvkpknplge gpvsntvafs tesadprvse pvsagrdaiw terpfnsdsy seckgkqyvk
     1261 rtwykkfvgv qlcnslryki ylsdsltgkf ynigdqrghg edhcqfvdsf ldgrtgqqlt
     1321 sdqlpikegy fravrqepvq fgeigghtqi nyvqwyecgt tipgkw
//
LOCUS       XP_054205304            3512 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat and FYVE domain-containing protein 3 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054205304
VERSION     XP_054205304.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349329.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3512
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3512
                     /product="WD repeat and FYVE domain-containing protein 3
                     isoform X6"
                     /calculated_mol_wt=393612
     CDS             1..3512
                     /gene="WDFY3"
                     /gene_synonym="ALFY; BCHS; MCPH18; ZFYVE25"
                     /coded_by="XM_054349329.1:14715..25253"
                     /db_xref="GeneID:23001"
                     /db_xref="HGNC:HGNC:20751"
                     /db_xref="MIM:617485"
ORIGIN      
        1 mnmvkrimgr prqeecspqd nalglmhlrr lftelchppr hmtqkeqeek lymmlpvfnr
       61 vfgnappntm tekfsdllqf ttqvsrlmvt eirrrasnks tekqcallsp kdfkattpse
      121 aasraivqfl einqseeasr gwmllttinl lassgqktvd cmttmsvpst lvkclylffd
      181 lphvpeavgg aqnelplaer rgllqkvfvq ilvklcsfvs paeelaqkdd lqllfsaits
      241 wcppynlpwr ksagevlmti srhglsvnvv kyihekecls tcvqnmqqsd dlspleivem
      301 faglscflkd ssdvsqtlld dfriwqgynf lcdlllrleq akeaeskdal kdlvnlitsl
      361 ttygvselkp agittgapfl lpgfavpqpa gkghsvrnvq afavlqnafl kaktsflaqi
      421 ildaitniym adnanyfile sqhtlsqfae kisklpevqn kyfemlefvv fslnyipcke
      481 lisvsillks sssyhcsiia mktllkftrh dyifkdvfre vgllevmvnl lhkyaallkd
      541 ptqalneqgd srnnssvedq khlallvmet ltvllqgsnt nagifrefgg arcahnivky
      601 pqcrqhalmt iqqlvlspng dddmgtllgl mhsapptelq lktdilrall svlreshrsr
      661 tvfrkvggfv yitsllvame rslscppkng wekvnqnqvf ellhtvfctl taamryepan
      721 shffkteiqy ekladavrfl gcfsdlrkis amnvfpsntq pfqrlleedv isiesvsptl
      781 rhcsklfiyl ykvatdsfds raeqippclt sesslpspwg tpalsrkrha yhsvstppvy
      841 ppknvadlkl hvttsslqss daviihpgam lamldllasv gsvtqpehal dlqlavanil
      901 qslvhternq qvmceaglha rllqrcsaal adedhslhpp lqrmferlas qalepmvlre
      961 flrlasplnc gawdkkllkq yrvhkpssls yepemrssmi tsleglgtdn vfslhednhy
     1021 riskslvksa egstvpltrv kclvsmttph dirlhgssvt pafvefdtsl egfgclflps
     1081 laphnaptnn tvttglidga vvsgigsger ffpppsglsy sswfciehfs sppnnhpvrl
     1141 ltvvrranss eqhyvclaiv lsakdrsliv stkeellqny vddfseessf yeilpccarf
     1201 rcgeliiegq whhlvlvmsk gmlknstaal yidgqlvntv klhyvhstpg gsgsanppvv
     1261 stvyayigtp paqrqiaslv wrlgpthfle evlpssnvtt iyelgpnyvg sfqavcmpck
     1321 daksegvvps pvslvpeekv sfglyalsvs sltvarirkv ynkldskaia kqlgisshen
     1381 atpvklihns aghlngsart igaaligylg vrtfvpkpva ttlqyvggaa ailglvamas
     1441 dveglyaavk alvcvvksnp laskemerik gyqllamllk kkrsllnshi lhltfslvgt
     1501 vdsghetsii pnstafqdll cdfevwlhap yelhlslfeh fielltesse asknaklmre
     1561 fqlipklllt lrdmslsqpt iaaisnvlsf llqgfpssnd llrfgqfiss tlptfavcek
     1621 fvvmeinnee kldtgteeef gglvsanlil lrnrlldill kliytskekt sinlqaceel
     1681 vktlgfdwim mfmeehlhst tvtaamrilv vllsnqsili kfkeglsggg wleqtdsvlt
     1741 nkigtvlgfn vgrsaggrst vreinrdach fpgfpvlqsf lpkhtnvpal yfllmalflq
     1801 qpvselpenl qfdldsiwtf ifgvpassgt vvssihnvct eavflllgml rsmltspwqs
     1861 eeegswlrey pvtlmqffry lyhnvpdlas mwmspdflca laatvfpfni rpysemvtdl
     1921 ddevgspaee fkafaadtgm nrsqseycnv gtktyltnhp akkfvfdfmr vliidnlclt
     1981 paskqtplid llleaspers trtqqkefqt yildsvmdhl laadvllged aslpitsggs
     2041 yqvlvnnvfy ftqrvvdklw qgmfnkeskl lidfiiqlia qskrrsqgls ldavyhclnr
     2101 tilyqfsrah ktvpqqvall dslrvltvnr nlilgpgnhd qefisclahc linlhvgsnv
     2161 dgfgleaear mttwhimips diepdgsysq disegrqlli kavnrvwtel ihskkqvlee
     2221 lfkvtlpvne rghvdiatar plieeaalkc wqnhlahekk cisrgealap ttqsklsrvs
     2281 sgfglskltg srrnrkesgl nkhslstqei sqwmfthiav vrdlvdtqyk eyqerqqnal
     2341 kyvteewcqi ecellrergl wgppigshld kwmlemtegp crmrkkmvrn dmfynhypyv
     2401 peteqetnva kparyrravs ydskeyymrl asgnpaivqd aivessegea aqqepehged
     2461 tiakvkglvk pplkrsrsap dggdeenqeq lqdqiaegss ieeeektdna tllrlleege
     2521 kiqhmyrcar vqgldtsegl llfgkehfyv idgftmtatr eirdietlpp nmhepiiprg
     2581 arqgpsqlkr tcsifayedi kevhkrryll qpiavevfsg dgrnyllafq kgirnkvyqr
     2641 flavvpsltd ssesvsgqrp ntsveqgsgl lstlvgeksv tqrwergeis nfqylmhlnt
     2701 lagrsyndlm qypvfpwila dydseevdlt npktfrnlak pmgaqtderl aqykkrykdw
     2761 edpngetpay hygthyssam ivasylvrme pftqiflrlq gghfdladrm fhsvreawys
     2821 askhnmadvk elipeffylp eflfnsnnfd lgckqngtkl gdvilppwak gdprefirvh
     2881 realecdyvs ahlhewidli fgykqqgpaa veavnvfhhl fyegqvdiyn indplketat
     2941 igfinnfgqi pkqlfkkphp pkrvrsrlng dnagisvlpg stsdkiffhh ldnlrpsltp
     3001 vkelkepvgq ivctdkgila veqnkvlipp twnktfawgy adlscrlgty esdkamtvye
     3061 clsewgqilc aicpnpklvi tggtstvvcv wemgtskeka ktvtlkqall ghtdtvtcat
     3121 aslayhiivs gsrdrtciiw dlnklsfltq lrghrapvsa lcineltgdi vscagtyihv
     3181 wsingnpivs vntftgrsqq iicccmsemn ewdtqnvivt ghsdgvvrfw rmeflqvpet
     3241 papepaevle mqedcpeaqi gqeaqdedss dseadeqsis qdpkdtpsqp sstshrpraa
     3301 scrataawct dsgsddsrrw sdqlsldekd gfifvnyseg qtrahlqgpl shphpnpiev
     3361 rnysrlkpgy rwerqlvfrs kltmhtafdr kdnahpaevt algiskdhsr ilvgdsrgrv
     3421 fswsvsdqpg rsaadhwvkd eggdscsgcs vrfslterrh hcrncgqlfc qkcsrfqsei
     3481 krlkisspvr vcqncyynlq hergsedgpr nc
//
LOCUS       XP_054206747             822 aa            linear   PRI 20-MAR-2023
DEFINITION  short transient receptor potential channel 3 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054206747
VERSION     XP_054206747.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350772.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..822
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..822
                     /product="short transient receptor potential channel 3
                     isoform X5"
                     /calculated_mol_wt=93776
     CDS             1..822
                     /gene="TRPC3"
                     /gene_synonym="SCA41; TRP3"
                     /coded_by="XM_054350772.1:381..2849"
                     /db_xref="GeneID:7222"
                     /db_xref="HGNC:HGNC:12335"
                     /db_xref="MIM:602345"
ORIGIN      
        1 mstkvrkcke qarvtfpape eeedegedeg aepqrrrrgw rgvngglepr sapsqrephg
       61 ycpppfshgp dlsmegspsl rrmtvmrekg rrqavrgpaf mfndrgtslt aeeerfldaa
      121 eygnipvvrk mleesktlnv ncvdymgqna lqlavgnehl evtelllkke nlarigdall
      181 laiskgyvri veailnhpgf aaskrltlsp ceqelqdddf yaydedgtrf spditpiila
      241 ahcqkyevvh mllmkgarie rphdyfckcg dcmekqrhds fshsrsrina ykglaspayl
      301 slssedpvlt alelsnelak laniekefkn dyrklsmqck dfvvgvldlc rdseeveail
      361 ngdlesaepl evhrhkasls rvklaikyev kkfvahpncq qqlltiwyen lsglreqtia
      421 ikclvvlvva lglpflaigy wiapcsrlgk ilrspfmkfv ahaasfiifl gllvfnasdr
      481 fegittlpni tvtdypkqif rvkttqftwt emlimvwvlg mmwseckelw legpreyilq
      541 lwnvldfgml sifiaaftar flaflqatka qqyvdsyvqe sdlsevtlpp eiqyftyard
      601 kwlpsdpqii seglyaiavv lsfsriayil panesfgplq islgrtvkdi fkfmvlfimv
      661 ffafmigmfi lysyylgakv naafttvees fktlfwsifg lsevtsvvlk ydhkfienig
      721 yvlygiynvt mvvvllnmli aminssyqei eddsdvewkf arsklwlsyf ddgktlpppf
      781 slvpspksfv yfimrivnfp kcrrrrlqkd iemgmgnsks rf
//
LOCUS       NP_001369502             419 aa            linear   PRI 14-DEC-2022
DEFINITION  stromal interaction molecule 1 isoform 11 [Homo sapiens].
ACCESSION   NP_001369502
VERSION     NP_001369502.1
DBSOURCE    REFSEQ: accession NM_001382573.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 419)
  AUTHORS   Knapp ML, Alansary D, Poth V, Forderer K, Sommer F, Zimmer D,
            Schwarz Y, Kunzel N, Kless A, Machaca K, Helms V, Muhlhaus T,
            Schroda M, Lis A and Niemeyer BA.
  TITLE     A longer isoform of Stim1 is a negative SOCE regulator but
            increases cAMP-modulated NFAT signaling
  JOURNAL   EMBO Rep 23 (3), e53135 (2022)
   PUBMED   34942054
REFERENCE   2  (residues 1 to 419)
  AUTHORS   Ramesh G, Jarzembowski L, Schwarz Y, Poth V, Konrad M, Knapp ML,
            Schwar G, Lauer AA, Grimm MOW, Alansary D, Bruns D and Niemeyer BA.
  TITLE     A short isoform of STIM1 confers frequency-dependent synaptic
            enhancement
  JOURNAL   Cell Rep 34 (11), 108844 (2021)
   PUBMED   33730587
  REMARK    GeneRIF: A short isoform of STIM1 confers frequency-dependent
            synaptic enhancement.
REFERENCE   3  (residues 1 to 419)
  AUTHORS   Kilch T, Alansary D, Peglow M, Dorr K, Rychkov G, Rieger H, Peinelt
            C and Niemeyer BA.
  TITLE     Mutations of the Ca2+-sensing stromal interaction molecule STIM1
            regulate Ca2+ influx by altered oligomerization of STIM1 and by
            destabilization of the Ca2+ channel Orai1
  JOURNAL   J Biol Chem 288 (3), 1653-1664 (2013)
   PUBMED   23212906
  REMARK    GeneRIF: The molecular kinetics of STIM1 and Orai1 are major
            determinants of calcium influx in cultured cell.
REFERENCE   4  (residues 1 to 419)
  AUTHORS   Soboloff J, Rothberg BS, Madesh M and Gill DL.
  TITLE     STIM proteins: dynamic calcium signal transducers
  JOURNAL   Nat Rev Mol Cell Biol 13 (9), 549-565 (2012)
   PUBMED   22914293
  REMARK    GeneRIF: Studies indicate that in vertebrates, stromal interaction
            molecule proteins STIM1 and STIM2 are expressed ubiquitously
            throughout cell types.
            Review article
REFERENCE   5  (residues 1 to 419)
  AUTHORS   Darbellay B, Arnaudeau S, Bader CR, Konig S and Bernheim L.
  TITLE     STIM1L is a new actin-binding splice variant involved in fast
            repetitive Ca2+ release
  JOURNAL   J Cell Biol 194 (2), 335-346 (2011)
   PUBMED   21788372
  REMARK    GeneRIF: STIM1L was expressed in several mammalian tissues,
            suggesting that many cell types rely on this Ca(2+) sensor for
            their Ca(2+) homeostasis and intracellular signaling
REFERENCE   6  (residues 1 to 419)
  AUTHORS   Byun M, Abhyankar A, Lelarge V, Plancoulaine S, Palanduz A, Telhan
            L, Boisson B, Picard C, Dewell S, Zhao C, Jouanguy E, Feske S, Abel
            L and Casanova JL.
  TITLE     Whole-exome sequencing-based discovery of STIM1 deficiency in a
            child with fatal classic Kaposi sarcoma
  JOURNAL   J Exp Med 207 (11), 2307-2312 (2010)
   PUBMED   20876309
  REMARK    GeneRIF: STIM1 T cell deficiency precipitated the development of
            lethal KS in this child upon infection with HHV-8.
REFERENCE   7  (residues 1 to 419)
  AUTHORS   Feske S.
  TITLE     ORAI1 and STIM1 deficiency in human and mice: roles of
            store-operated Ca2+ entry in the immune system and beyond
  JOURNAL   Immunol Rev 231 (1), 189-209 (2009)
   PUBMED   19754898
  REMARK    GeneRIF: Lack of STIM1 or ORAI1 in human patients and mice strongly
            compromises T cell function[review]
            Review article
REFERENCE   8  (residues 1 to 419)
  AUTHORS   Picard C, McCarl CA, Papolos A, Khalil S, Luthy K, Hivroz C,
            LeDeist F, Rieux-Laucat F, Rechavi G, Rao A, Fischer A and Feske S.
  TITLE     STIM1 mutation associated with a syndrome of immunodeficiency and
            autoimmunity
  JOURNAL   N Engl J Med 360 (19), 1971-1980 (2009)
   PUBMED   19420366
  REMARK    GeneRIF: study reports 3 siblings from 1 kindred with a syndrome of
            immunodeficiency, hepatosplenomegaly, autoimmune hemolytic anemia,
            thrombocytopenia, muscular hypotonia & defective enamel dentition;
            2 of the patients have homozygous nonsense mutation in STIM1
REFERENCE   9  (residues 1 to 419)
  AUTHORS   Sabbioni S, Veronese A, Trubia M, Taramelli R, Barbanti-Brodano G,
            Croce CM and Negrini M.
  TITLE     Exon structure and promoter identification of STIM1 (alias GOK), a
            human gene causing growth arrest of the human tumor cell lines G401
            and RD
  JOURNAL   Cytogenet Cell Genet 86 (3-4), 214-218 (1999)
   PUBMED   10575208
REFERENCE   10 (residues 1 to 419)
  AUTHORS   Parker NJ, Begley CG, Smith PJ and Fox RM.
  TITLE     Molecular cloning of a novel human gene (D11S4896E) at chromosomal
            region 11p15.5
  JOURNAL   Genomics 37 (2), 253-256 (1996)
   PUBMED   8921403
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090587.10, AC087441.9 and
            AC015689.12.
            
            Summary: This gene encodes a type 1 transmembrane protein that
            mediates Ca2+ influx after depletion of intracellular Ca2+ stores
            by gating of store-operated Ca2+ influx channels (SOCs). It is one
            of several genes located in the imprinted gene domain of 11p15.5,
            an important tumor-suppressor gene region. Alterations in this
            region have been associated with the Beckwith-Wiedemann syndrome,
            Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung,
            ovarian, and breast cancer. This gene may play a role in
            malignancies and disease that involve this region, as well as early
            hematopoiesis, by mediating attachment to stromal cells. Mutations
            in this gene are associated with fatal classic Kaposi sarcoma,
            immunodeficiency due to defects in store-operated calcium entry
            (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate
            myopathy. This gene is oriented in a head-to-tail configuration
            with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of
            this gene situated 1.6 kb from the 5' end of the RRM1 gene.
            Alternative splicing of this gene results in multiple transcript
            variants. [provided by RefSeq, May 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.9173.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2150585
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..419
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..419
                     /product="stromal interaction molecule 1 isoform 11"
                     /calculated_mol_wt=48702
     Region          54..127
                     /region_name="SAM_STIM1"
                     /note="SAM domain of STIM1 subfamily proteins; cd09573"
                     /db_xref="CDD:188972"
     Site            order(58,78,89,105,118,124)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:188972"
     Region          <163..>360
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          268..367
                     /region_name="SOAR"
                     /note="STIM1 Orai1-activating region; pfam16533"
                     /db_xref="CDD:435404"
     Site            order(273,276..277,279..280,283..284,287..288,291,
                     355..356,359,362)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:212596"
     Site            order(274..275,278,363..364)
                     /site_type="other"
                     /note="putative inhibitory helix interface [polypeptide
                     binding]"
                     /db_xref="CDD:212596"
     CDS             1..419
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /coded_by="NM_001382573.1:338..1597"
                     /note="isoform 11 is encoded by transcript variant 11"
                     /db_xref="GeneID:6786"
                     /db_xref="HGNC:HGNC:11386"
                     /db_xref="MIM:605921"
ORIGIN      
        1 mdddangdvd veesdeflre dlnyhdptvk hstfhgedkl isvedlwkaw kssevynwtv
       61 devvqwlity velpqyeetf rklqlsgham prlavtnttm tgtvlkmtdr shrqklqlka
      121 ldtvlfgppl ltrhnhlkdf mlvvsivigv ggcwfayiqn ryskehmkkm mkdleglhra
      181 eqslhdlqer lhkaqeehrt vevekvhlek klrdeinlak qeaqrlkelr egtenersrq
      241 kyaeeeleqv realrkaeke leshsswyap ealqkwlqlt hevevqyyni kkqnaekqll
      301 vakegaekik kkrntlfgtf hvahsssldd vdhkiltakq alsevtaalr erlhrwqqie
      361 ilcgfqivnn pgihslvaal nidpswmgst rpnpahfimt ddvddmdeei vsplsmqcr
//
LOCUS       NP_001266280             329 aa            linear   PRI 17-DEC-2022
DEFINITION  RNA exonuclease 4 isoform 4 [Homo sapiens].
ACCESSION   NP_001266280
VERSION     NP_001266280.1
DBSOURCE    REFSEQ: accession NM_001279351.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 329)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 329)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 329)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   4  (residues 1 to 329)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   5  (residues 1 to 329)
  AUTHORS   Krishnamurthy N, Ngam CR, Berdis AJ and Montano MM.
  TITLE     The exonuclease activity of hPMC2 is required for transcriptional
            regulation of the QR gene and repair of estrogen-induced abasic
            sites
  JOURNAL   Oncogene 30 (47), 4731-4739 (2011)
   PUBMED   21602889
  REMARK    GeneRIF: determined that the catalytic activity of hPMC2 is
            required for repair of abasic sites that result from
            estrogen-induced DNA damage
REFERENCE   6  (residues 1 to 329)
  AUTHORS   Montano MM, Wittmann BM and Bianco NR.
  TITLE     Identification and characterization of a novel factor that
            regulates quinone reductase gene transcriptional activity
  JOURNAL   J Biol Chem 275 (44), 34306-34313 (2000)
   PUBMED   10908561
REFERENCE   7  (residues 1 to 329)
  AUTHORS   Kwiatkowska J, Slomski R, Jozwiak S, Short MP and Kwiatkowski DJ.
  TITLE     Human XPMC2H: cDNA cloning, mapping to 9q34, genomic structure, and
            evaluation as TSC1
  JOURNAL   Genomics 44 (3), 350-354 (1997)
   PUBMED   9325058
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK295982.1, BC009274.2, AL136894.1 and BM984937.1.
            
            Transcript Variant: This variant (4) differs in the 5' exon and
            initiates translation at a downstream in-frame start codon,
            compared to variant 1. The encoded isoform (4) has a shorter
            N-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK295982.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..329
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.2"
     Protein         1..329
                     /product="RNA exonuclease 4 isoform 4"
                     /note="Xenopus prevents mitotic catastrophe 2 homolog; RNA
                     exonuclease 4; exonuclease XPMC2; XPMC2 prevents mitotic
                     catastrophe 2 homolog; REX4, RNA exonuclease 4 homolog"
                     /calculated_mol_wt=36249
     Region          151..301
                     /region_name="REX4_like"
                     /note="DEDDh 3'-5' exonuclease domain of RNA exonuclease
                     4, XPMC2, Interferon Stimulated Gene product of 20 kDa,
                     and similar proteins; cd06144"
                     /db_xref="CDD:99847"
     Site            order(154..157,159,197,201,233..234,236..238,288,293)
                     /site_type="active"
                     /db_xref="CDD:99847"
     Site            order(154..157,159,197,201,233..234,236..237,288,293)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:99847"
     Site            order(154,156,238,288,293)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:99847"
     CDS             1..329
                     /gene="REXO4"
                     /gene_synonym="REX4; XPMC2; XPMC2H"
                     /coded_by="NM_001279351.1:215..1204"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:57109"
                     /db_xref="HGNC:HGNC:12820"
                     /db_xref="MIM:602930"
ORIGIN      
        1 mgskkkpkii qqnkketspq vkgeempagk dqeasrgsvp sgskmdrrap vprtkasgte
       61 hnkkgtkert ngdivpergd iehkkrkake aapappteed iwfddvdpad ieaaigpeaa
      121 kiarkqlgqs egsvslslvk eqafggltra laldcemvgv gpkgeesmaa rvsivnqygk
      181 cvydkyvkpt epvtdyrtav sgirpenlkq geelevvqke vaemlkgril vghalhndlk
      241 vlfldhpkkk irdtqkykpf ksqvksgrps lrllsekilg lqvqqaehcs iqdaqaamrl
      301 yvmvkkewes mardrrpllt apdhcsdda
//
LOCUS       NP_775790                354 aa            linear   PRI 18-DEC-2022
DEFINITION  clavesin-1 [Homo sapiens].
ACCESSION   NP_775790
VERSION     NP_775790.1
DBSOURCE    REFSEQ: accession NM_173519.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 354)
  AUTHORS   Lane BM, Chryst-Stangl M, Wu G, Shalaby M, El Desoky S, Middleton
            CC, Huggins K, Sood A, Ochoa A, Malone AF, Vancini R, Miller SE,
            Hall G, Kim SY, Howell DN, Kari JA and Gbadegesin R.
  TITLE     Steroid-sensitive nephrotic syndrome candidate gene CLVS1 regulates
            podocyte oxidative stress and endocytosis
  JOURNAL   JCI Insight 7 (2), e152102 (2022)
   PUBMED   34874915
  REMARK    GeneRIF: Steroid-sensitive nephrotic syndrome candidate gene CLVS1
            regulates podocyte oxidative stress and endocytosis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 354)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 354)
  AUTHORS   Guan W, Steffen BT, Lemaitre RN, Wu JHY, Tanaka T, Manichaikul A,
            Foy M, Rich SS, Wang L, Nettleton JA, Tang W, Gu X, Bandinelli S,
            King IB, McKnight B, Psaty BM, Siscovick D, Djousse L, Chen YI,
            Ferrucci L, Fornage M, Mozafarrian D, Tsai MY and Steffen LM.
  TITLE     Genome-wide association study of plasma N6 polyunsaturated fatty
            acids within the cohorts for heart and aging research in genomic
            epidemiology consortium
  JOURNAL   Circ Cardiovasc Genet 7 (3), 321-331 (2014)
   PUBMED   24823311
REFERENCE   4  (residues 1 to 354)
  AUTHORS   Orvedahl A, Sumpter R Jr, Xiao G, Ng A, Zou Z, Tang Y, Narimatsu M,
            Gilpin C, Sun Q, Roth M, Forst CV, Wrana JL, Zhang YE, Luby-Phelps
            K, Xavier RJ, Xie Y and Levine B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   5  (residues 1 to 354)
  AUTHORS   Furney SJ, Simmons A, Breen G, Pedroso I, Lunnon K, Proitsi P,
            Hodges A, Powell J, Wahlund LO, Kloszewska I, Mecocci P, Soininen
            H, Tsolaki M, Vellas B, Spenger C, Lathrop M, Shen L, Kim S, Saykin
            AJ, Weiner MW and Lovestone S.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative; AddNeuroMed Consortium
  TITLE     Genome-wide association with MRI atrophy measures as a quantitative
            trait locus for Alzheimer's disease
  JOURNAL   Mol Psychiatry 16 (11), 1130-1138 (2011)
   PUBMED   21116278
REFERENCE   6  (residues 1 to 354)
  AUTHORS   Katoh Y, Ritter B, Gaffry T, Blondeau F, Honing S and McPherson PS.
  TITLE     The clavesin family, neuron-specific lipid- and clathrin-binding
            Sec14 proteins regulating lysosomal morphology
  JOURNAL   J Biol Chem 284 (40), 27646-27654 (2009)
   PUBMED   19651769
  REMARK    GeneRIF: Clavesin protein family appears to provide a unique
            neuron-specific regulation of late endosome/lysosome morphology.
REFERENCE   7  (residues 1 to 354)
  AUTHORS   Zhao S, Xu C, Qian H, Lv L, Ji C, Chen C, Zhao X, Zheng D, Gu S,
            Xie Y and Mao Y.
  TITLE     Cellular retinaldehyde-binding protein-like (CRALBPL), a novel
            human Sec14p-like gene that is upregulated in human hepatocellular
            carcinomas, may be used as a marker for human hepatocellular
            carcinomas
  JOURNAL   DNA Cell Biol 27 (3), 159-163 (2008)
   PUBMED   18271718
  REMARK    GeneRIF: CRALBPL may be used as a marker for human hepatocellular
            carcinomas.
REFERENCE   8  (residues 1 to 354)
  AUTHORS   Kong YH, Ye GM, Qu K, Pan WQ, Liu XH, Wan B, Guo JH and Yu L.
  TITLE     Cloning and characterization of a novel, human cellular
            retinaldehyde-binding protein CRALBP-like (CRALBPL) gene
  JOURNAL   Biotechnol Lett 28 (17), 1327-1333 (2006)
   PUBMED   16802092
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA217517.1, BC042617.1, AC090094.5 and AK125153.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.50047.1,
                                           SRR1660809.91719.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000325897.5/ ENSP00000325506.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.2-q12.3"
     Protein         1..354
                     /product="clavesin-1"
                     /note="retinaldehyde-binding protein 1-like 1; clathrin
                     vesicle-associated Sec14 protein 1"
                     /calculated_mol_wt=40657
     Region          51..97
                     /region_name="CRAL_TRIO_N"
                     /note="CRAL/TRIO, N-terminal domain; smart01100"
                     /db_xref="CDD:215024"
     Region          128..274
                     /region_name="SEC14"
                     /note="Sec14p-like lipid-binding domain. Found in
                     secretory proteins, such as S. cerevisiae
                     phosphatidylinositol transfer protein (Sec14p), and in
                     lipid regulated proteins such as RhoGAPs, RhoGEFs and
                     neurofibromin (NF1). SEC14 domain of Dbl is known to...;
                     cd00170"
                     /db_xref="CDD:238099"
     Site            order(139,141,143,169,184,186,202,206,210,214,217,220,222,
                     229,236,248)
                     /site_type="other"
                     /note="phospholipid binding pocket [chemical binding]"
                     /db_xref="CDD:238099"
     Site            order(215,247)
                     /site_type="other"
                     /note="salt bridge"
                     /db_xref="CDD:238099"
     Region          333..354
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUQ0.1)"
     CDS             1..354
                     /gene="CLVS1"
                     /gene_synonym="C6orf212L; CRALBPL; RLBP1L1"
                     /coded_by="NM_173519.3:321..1385"
                     /db_xref="CCDS:CCDS6176.1"
                     /db_xref="GeneID:157807"
                     /db_xref="HGNC:HGNC:23139"
                     /db_xref="MIM:611292"
ORIGIN      
        1 mgpvsllpky qklntwngdl akmthlqagl spetiekarl elnenpdvlh qdiqqvrdmi
       61 itrpdigflr tddafilrfl rarkfhqada frllaqyfqy rqlnldmfkn fkaddpgikr
      121 alidgfpgvl enrdhygrki lllfaanwdq srnsftdilr aillslevli edpelqingf
      181 iliidwsnfs fkqaskltps ilklaieglq dsfparfggv hfvnqpwyih alytlikpfl
      241 kdktrkrifl hgnnlnslhq lihpeflpse fggtlppydm gtwartllgp dysdendyth
      301 tsynamhvkh tssnlerecs pklmkrsqsv veagtlkhee kgenentqpl lald
//
LOCUS       NP_001004480             330 aa            linear   PRI 18-DEC-2022
DEFINITION  olfactory receptor 11H6 [Homo sapiens].
ACCESSION   NP_001004480 XP_063315
VERSION     NP_001004480.1
DBSOURCE    REFSEQ: accession NM_001004480.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 330)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL356019.5.
            On Sep 18, 2004 this sequence version replaced XP_063315.3.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000315519.3/ ENSP00000319071.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..330
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     Protein         1..330
                     /product="olfactory receptor 11H6"
                     /note="olfactory receptor OR14-35"
                     /calculated_mol_wt=36657
     Site            21
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NGC7.1)"
     Region          44..312
                     /region_name="7tmA_OR11G-like"
                     /note="olfactory receptor OR11G and related proteins,
                     member of the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15913"
                     /db_xref="CDD:320579"
     Region          44..70
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320579"
     Site            44..64
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1)"
     Site            73..93
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1)"
     Region          77..103
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320579"
     Site            order(99,102..103,115..120,122..123,126,171,173..177,213,
                     216..218,220..222,224..225,270,273..274,276..277,280,
                     286..287,289..291,294,297..298)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320579"
     Region          115..145
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320579"
     Site            118..138
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1)"
     Region          158..179
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320579"
     Site            158..178
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1)"
     Region          213..243
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320579"
     Site            216..235
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1)"
     Region          250..280
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320579"
     Site            256..276
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1)"
     Region          287..312
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320579"
     Site            290..310
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1)"
     CDS             1..330
                     /gene="OR11H6"
                     /coded_by="NM_001004480.1:1..993"
                     /db_xref="CCDS:CCDS32033.1"
                     /db_xref="GeneID:122748"
                     /db_xref="HGNC:HGNC:15349"
ORIGIN      
        1 mffiihslvt svfltalgpq nrtmhfvtef vllgfhgqre mqscffsfil vlylltllgn
       61 gaivcavkld rrlhtpmyil lgnfafleiw yisstvpnml vnilseikti sfsgcflqfy
      121 fffslgttec fflsvmaydr ylaicrplhy psimtgkfci ilvcvcwvgg flcypvpivl
      181 isqlpfcgpn iidhlvcdpg plfalacisa pstelicytf nsmiifgpfl silgsytlvi
      241 ravlcipsga grtkafstcg shlmvvslfy gtlmvmyvsp tsgnpagmqk iitlvytamt
      301 pflnpliysl rnkdmkdalk rvlgltvsqn
//
LOCUS       NP_001276325            1590 aa            linear   PRI 18-DEC-2022
DEFINITION  probable global transcription activator SNF2L2 isoform a [Homo
            sapiens].
ACCESSION   NP_001276325 XP_005251614
VERSION     NP_001276325.1
DBSOURCE    REFSEQ: accession NM_001289396.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1590)
  AUTHORS   Zhang Z, Li Q, Sun S, Li Z, Cui ZG, Zhang M, Liu Q, Zhang Y, Xiong
            S and Zhang S.
  TITLE     Clinicopathological and prognostic significance of SWI/SNF complex
            subunits in undifferentiated gastric carcinoma
  JOURNAL   World J Surg Oncol 20 (1), 383 (2022)
   PUBMED   36464671
  REMARK    GeneRIF: Clinicopathological and prognostic significance of SWI/SNF
            complex subunits in undifferentiated gastric carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1590)
  AUTHORS   Zhang X, Chen H, Song Y, Chen Z, Liu X, Rong P and Ma R.
  TITLE     Ten-year follow-up of Nicolaides-Baraitser syndrome with a de novo
            mutation and analysis of 58 gene loci of SMARCA2-associated NCBRS
  JOURNAL   Mol Genet Genomic Med 10 (9), e2009 (2022)
   PUBMED   35811451
  REMARK    GeneRIF: Ten-year follow-up of Nicolaides-Baraitser syndrome with a
            de novo mutation and analysis of 58 gene loci of SMARCA2-associated
            NCBRS.
REFERENCE   3  (residues 1 to 1590)
  AUTHORS   Chang B, Sheng W, Wang L, Zhu X, Tan C, Ni S, Weng W, Huang D and
            Wang J.
  TITLE     SWI/SNF Complex-deficient Undifferentiated Carcinoma of the
            Gastrointestinal Tract: Clinicopathologic Study of 30 Cases With an
            Emphasis on Variable Morphology, Immune Features, and the
            Prognostic Significance of Different SMARCA4 and SMARCA2 Subunit
            Deficiencies
  JOURNAL   Am J Surg Pathol 46 (7), 889-906 (2022)
   PUBMED   34812766
  REMARK    GeneRIF: SWI/SNF Complex-deficient Undifferentiated Carcinoma of
            the Gastrointestinal Tract: Clinicopathologic Study of 30 Cases
            With an Emphasis on Variable Morphology, Immune Features, and the
            Prognostic Significance of Different SMARCA4 and SMARCA2 Subunit
            Deficiencies.
REFERENCE   4  (residues 1 to 1590)
  AUTHORS   Sun S, Li Q, Zhang Z, Xiong S, Zhang Y, Liu Q, Li Z, Yang F and
            Zhang S.
  TITLE     SMARCA2 deficiency in NSCLC: a clinicopathologic and
            immunohistochemical analysis of a large series from a single
            institution
  JOURNAL   Environ Health Prev Med 27 (0), 3 (2022)
   PUBMED   35289322
  REMARK    GeneRIF: SMARCA2 deficiency in NSCLC: a clinicopathologic and
            immunohistochemical analysis of a large series from a single
            institution.
REFERENCE   5  (residues 1 to 1590)
  AUTHORS   Kim M, Park J, Bouhaddou M, Kim K, Rojc A, Modak M, Soucheray M,
            McGregor MJ, O'Leary P, Wolf D, Stevenson E, Foo TK, Mitchell D,
            Herrington KA, Munoz DP, Tutuncuoglu B, Chen KH, Zheng F, Kreisberg
            JF, Diolaiti ME, Gordan JD, Coppe JP, Swaney DL, Xia B, van 't Veer
            L, Ashworth A, Ideker T and Krogan NJ.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   6  (residues 1 to 1590)
  AUTHORS   Aves SJ, Hindley J, Phear GA and Tongue N.
  TITLE     A fission yeast gene mapping close to suc1 encodes a protein
            containing two bromodomains
  JOURNAL   Mol Gen Genet 248 (4), 491-498 (1995)
   PUBMED   7565614
REFERENCE   7  (residues 1 to 1590)
  AUTHORS   Chiba H, Muramatsu M, Nomoto A and Kato H.
  TITLE     Two human homologues of Saccharomyces cerevisiae SWI2/SNF2 and
            Drosophila brahma are transcriptional coactivators cooperating with
            the estrogen receptor and the retinoic acid receptor
  JOURNAL   Nucleic Acids Res 22 (10), 1815-1820 (1994)
   PUBMED   8208605
REFERENCE   8  (residues 1 to 1590)
  AUTHORS   Muchardt C, Yaniv M and Mattei MG.
  TITLE     Assignment of HBRM, the human homolog of S. cerevisiae SNF2/SWI2
            and Drosophila brm genes, to chromosome region 9p23-p24, by in situ
            hybridization
  JOURNAL   Mamm Genome 5 (4), 241-243 (1994)
   PUBMED   8012116
REFERENCE   9  (residues 1 to 1590)
  AUTHORS   Muchardt C and Yaniv M.
  TITLE     A human homologue of Saccharomyces cerevisiae SNF2/SWI2 and
            Drosophila brm genes potentiates transcriptional activation by the
            glucocorticoid receptor
  JOURNAL   EMBO J 12 (11), 4279-4290 (1993)
   PUBMED   8223438
REFERENCE   10 (residues 1 to 1590)
  AUTHORS   Abdul-Rahman,O.
  TITLE     Nicolaides-Baraitser Syndrome
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26468571
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359076.16, X72889.1,
            BC068252.1, AK299683.1, BC066596.1 and AK094076.1.
            On Jan 17, 2014 this sequence version replaced XP_005251614.1.
            
            Summary: The protein encoded by this gene is a member of the
            SWI/SNF family of proteins and is highly similar to the brahma
            protein of Drosophila. Members of this family have helicase and
            ATPase activities and are thought to regulate transcription of
            certain genes by altering the chromatin structure around those
            genes. The encoded protein is part of the large ATP-dependent
            chromatin remodeling complex SNF/SWI, which is required for
            transcriptional activation of genes normally repressed by
            chromatin. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene, which contains a
            trinucleotide repeat (CAG) length polymorphism. [provided by
            RefSeq, Jan 2014].
            
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1. Variants 1 and 3 encode the same protein
            (isoform a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X72889.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142586, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1590
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.3"
     Protein         1..1590
                     /product="probable global transcription activator SNF2L2
                     isoform a"
                     /note="global transcription activator homologous sequence;
                     SNF2-alpha; sucrose nonfermenting 2-like protein 2;
                     SNF2/SWI2-like protein 2; SWI/SNF-related
                     matrix-associated actin-dependent regulator of chromatin
                     a2; brahma homolog; probable global transcription
                     activator SNF2L2; BAF190B; protein brahma homolog;
                     BRG1-associated factor 190B; ATP-dependent helicase
                     SMARCA2; putative global transcription activator SNF2L2"
                     /calculated_mol_wt=181149
     Region          1..71
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P51531.2)"
     Region          <66..382
                     /region_name="PHA03378"
                     /note="EBNA-3B; Provisional"
                     /db_xref="CDD:223065"
     Region          95..176
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P51531.2)"
     Site            172
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P51531.2)"
     Region          173..207
                     /region_name="QLQ"
                     /note="pfam08880"
                     /db_xref="CDD:430282"
     Site            175
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P51531.2)"
     Site            190
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P51532; propagated from
                     UniProtKB/Swiss-Prot (P51531.2)"
     Region          212..334
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P51531.2)"
     Site            316
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6DIC0; propagated from
                     UniProtKB/Swiss-Prot (P51531.2)"
     Site            329
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P51531.2)"
     Region          436..508
                     /region_name="HSA"
                     /note="domain in helicases and associated with SANT
                     domains; smart00573"
                     /db_xref="CDD:214727"
     Region          551..592
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P51531.2)"
     Site            588
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P51532; propagated from
                     UniProtKB/Swiss-Prot (P51531.2)"
     Region          589..632
                     /region_name="BRK"
                     /note="BRK domain; pfam07533"
                     /db_xref="CDD:429518"
     Site            591
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P51531.2)"
     Site            604
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q6DIC0; propagated from
                     UniProtKB/Swiss-Prot (P51531.2)"
     Region          627..672
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P51531.2)"
     Site            666
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P51531.2)"
     Site            670
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P51532; propagated from
                     UniProtKB/Swiss-Prot (P51531.2)"
     Region          701..951
                     /region_name="DEXHc_SMARCA2"
                     /note="DEXH-box helicase domain of SMARCA2; cd18063"
                     /db_xref="CDD:350821"
     Region          720..>1202
                     /region_name="PLN03142"
                     /note="Probable chromatin-remodeling complex ATPase chain;
                     Provisional"
                     /db_xref="CDD:215601"
     Site            order(751..757,791,851..852)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350821"
     Region          851..854
                     /region_name="DEGH box"
                     /note="propagated from UniProtKB/Swiss-Prot (P51531.2)"
     Site            997
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P51531.2)"
     Site            999
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P51531.2)"
     Region          1259..1326
                     /region_name="SnAC"
                     /note="Snf2-ATP coupling, chromatin remodelling complex;
                     pfam14619"
                     /db_xref="CDD:434073"
     Region          1333..>1419
                     /region_name="Bromodomain"
                     /note="Bromodomains are found in many chromatin-associated
                     proteins and in nuclear histone acetyltransferases. They
                     interact specifically with acetylated lysine; cl02556"
                     /db_xref="CDD:445827"
     Region          1344..1383
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P51531.2)"
     Site            order(1361,1370,1373,1415,1419)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99922"
     Site            1377
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P51531.2)"
     Region          1382..1506
                     /region_name="Bromo_SNF2L2"
                     /note="Bromodomain, SNF2L2-like subfamily, specific to
                     animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related
                     matrix-associated actin-dependent regulator of chromatin
                     subfamily A member 2 is a global transcriptional
                     activator, which cooperates with nuclear hormone...;
                     cd05516"
                     /db_xref="CDD:99947"
     Site            order(1431,1436,1439,1478,1482,1488)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99947"
     Region          1506..1590
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P51531.2)"
     Site            1512
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P51531.2)"
     Site            1516
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P51531.2)"
     Site            1528
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P51531.2)"
     Site            1568
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18318008, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (P51531.2)"
     Site            1572
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18318008, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P51531.2)"
     CDS             1..1590
                     /gene="SMARCA2"
                     /gene_synonym="BAF190; BIS; BRM; hBRM; hSNF2a; NCBRS;
                     SNF2; SNF2L2; SNF2LA; Sth1p; SWI2"
                     /coded_by="NM_001289396.1:210..4982"
                     /note="isoform a is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS34977.1"
                     /db_xref="GeneID:6595"
                     /db_xref="HGNC:HGNC:11098"
                     /db_xref="MIM:600014"
ORIGIN      
        1 mstptdpgam phpgpspgpg pspgpilgps pgpgpspgsv hsmmgpspgp psvshpmptm
       61 gstdfpqegm hqmhkpidgi hdkgivedih cgsmkgtgmr pphpgmgppq spmdqhsqgy
      121 msphpsplga pehvsspmsg ggptppqmpp sqpgalipgd pqamsqpnrg pspfspvqlh
      181 qlraqilayk mlargqplpe tlqlavqgkr tlpglqqqqq qqqqqqqqqq qqqqqqqqpq
      241 qqppqpqtqq qqqpalvnyn rpsgpgpels gpstpqklpv papggrpspa ppaaaqppaa
      301 avpgpsvpqp apgqpspvlq lqqkqsrisp iqkpqgldpv eilqereyrl qariahriqe
      361 lenlpgslpp dlrtkatvel kalrllnfqr qlrqevvacm rrdttletal nskaykrskr
      421 qtlrearmte klekqqkieq erkrrqkhqe ylnsilqhak dfkeyhrsva gkiqklskav
      481 atwhantere qkketeriek ermrrlmaed eegyrklidq kkdrrlayll qqtdeyvanl
      541 tnlvwehkqa qaakekkkrr rrkkkaeena eggesalgpd gepidessqm sdlpvkvtht
      601 etgkvlfgpe apkasqldaw lemnpgyeva prsdseesds dyeeedeeee ssrqeteeki
      661 lldpnseevs ekdakqiiet akqdvddeys mqysargsqs yytvahaise rvekqsalli
      721 ngtlkhyqlq glewmvslyn nnlngilade mglgktiqti alitylmehk rlngpyliiv
      781 plstlsnwty efdkwapsvv kisykgtpam rrslvpqlrs gkfnvlltty eyiikdkhil
      841 akirwkymiv deghrmknhh ckltqvlnth yvaprrillt gtplqnklpe lwallnfllp
      901 tifkscstfe qwfnapfamt gervdlneee tiliirrlhk vlrpfllrrl kkevesqlpe
      961 kveyvikcdm salqkilyrh mqakgilltd gsekdkkgkg gaktlmntim qlrkicnhpy
     1021 mfqhieesfa ehlgysngvi ngaelyrasg kfelldrilp klratnhrvl lfcqmtslmt
     1081 imedyfafrn flylrldgtt ksedraallk kfnepgsqyf ifllstragg lglnlqaadt
     1141 vvifdsdwnp hqdlqaqdra hrigqqnevr vlrlctvnsv eekilaaaky klnvdqkviq
     1201 agmfdqksss herraflqai leheeeneee devpddetln qmiarreeef dlfmrmdmdr
     1261 rredarnpkr kprlmeedel pswiikddae verltceeee ekifgrgsrq rrdvdysdal
     1321 tekqwlraie dgnleemeee vrlkkrkrrr nvdkdpaked vekakkrrgr ppaeklspnp
     1381 pkltkqmnai idtvinykdr cnvekvpsns qleiegnssg rqlsevfiql psrkelpeyy
     1441 elirkpvdfk kikerirnhk yrslgdlekd vmllchnaqt fnlegsqiye dsivlqsvfk
     1501 sarqkiakee esedesneee eeedeeeses eaksvkvkik lnkkddkgrd kgkgkkrpnr
     1561 gkakpvvsdf dsdeeqdere qsegsgtdde
//
LOCUS       NP_001001918             312 aa            linear   PRI 23-DEC-2022
DEFINITION  olfactory receptor 14C36 [Homo sapiens].
ACCESSION   NP_001001918 XP_060307
VERSION     NP_001001918.1
DBSOURCE    REFSEQ: accession NM_001001918.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 312)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL450303.10.
            On Aug 30, 2004 this sequence version replaced XP_060307.1.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000317861.1/ ENSP00000324534.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..312
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     Protein         1..312
                     /product="olfactory receptor 14C36"
                     /note="olfactory receptor, family 5, subfamily BF, member
                     1; olfactory receptor OR1-59; olfactory receptor 5BF1"
                     /calculated_mol_wt=34685
     Site            3
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NHC7.1)"
     Region          23..292
                     /region_name="7tmA_OR14-like"
                     /note="olfactory receptor family 14 and related proteins,
                     member of the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15227"
                     /db_xref="CDD:320355"
     Region          24..50
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320355"
     Site            24..44
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC7.1)"
     Site            53..73
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC7.1)"
     Region          57..83
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320355"
     Site            order(79,82..83,95..100,102..103,106,151,153..157,193,
                     196..198,200..202,204..205,250,253..254,256..257,260,
                     266..267,269..271,274,277..278)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320355"
     Region          95..125
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320355"
     Site            98..118
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC7.1)"
     Region          137..158
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320355"
     Site            138..158
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC7.1)"
     Region          193..223
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320355"
     Site            195..215
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC7.1)"
     Region          230..260
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320355"
     Site            236..256
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC7.1)"
     Region          267..292
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320355"
     Site            270..290
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC7.1)"
     CDS             1..312
                     /gene="OR14C36"
                     /gene_synonym="OR5BF1"
                     /coded_by="NM_001001918.1:1..939"
                     /db_xref="CCDS:CCDS31112.1"
                     /db_xref="GeneID:127066"
                     /db_xref="HGNC:HGNC:15026"
ORIGIN      
        1 mpnsttvmef llmrfsdvwt lqilhsasff mlylvtlmgn ilivtvttcd sslhmpmyff
       61 lrnlsildac yisvtvptsc vnslldstti skagcvaqvf lvvffvyvel lfltimahdr
      121 yvavcqplhy pvivnsrici qmtlasllsg lvyagmhtgs tfqlpfcrsn vihqffcdip
      181 sllklscsdt fsnevmivvs algvgggcfi fiirsyihif stvlgfprga drtkafstci
      241 philvvsvfl sscssvylrp paipaatqdl ilsgfysimp plfnpiiysl rnkqikvaik
      301 kimkrifyse nv
//
LOCUS       NP_998755                407 aa            linear   PRI 24-DEC-2022
DEFINITION  E3 ubiquitin-protein ligase TRIM13 isoform 1 [Homo sapiens].
ACCESSION   NP_998755
VERSION     NP_998755.1
DBSOURCE    REFSEQ: accession NM_213590.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 407)
  AUTHORS   Roshanazadeh MR, Adelipour M, Sanaei A, Chenane H and Rashidi M.
  TITLE     TRIM3 and TRIM16 as potential tumor suppressors in breast cancer
            patients
  JOURNAL   BMC Res Notes 15 (1), 312 (2022)
   PUBMED   36180926
  REMARK    GeneRIF: TRIM3 and TRIM16 as potential tumor suppressors in breast
            cancer patients.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 407)
  AUTHORS   Li Y, Ren D, Shen Y, Zheng X and Xu G.
  TITLE     Altered DNA methylation of TRIM13 in diabetic nephropathy
            suppresses mesangial collagen synthesis by promoting ubiquitination
            of CHOP
  JOURNAL   EBioMedicine 51, 102582 (2020)
   PUBMED   31901873
  REMARK    GeneRIF: Altered DNA methylation of TRIM13 in diabetic nephropathy
            suppresses mesangial collagen synthesis by promoting ubiquitination
            of CHOP.
REFERENCE   3  (residues 1 to 407)
  AUTHORS   Xu L, Wu Q, Zhou X, Wu Q and Fang M.
  TITLE     TRIM13 inhibited cell proliferation and induced cell apoptosis by
            regulating NF-kappaB pathway in non-small-cell lung carcinoma cells
  JOURNAL   Gene 715, 144015 (2019)
   PUBMED   31357025
  REMARK    GeneRIF: results indicate that TRIM13 behaves as a tumor suppressor
            in non-small-cell lung carcinoma through regulating NF-kappaB
            pathway.
REFERENCE   4  (residues 1 to 407)
  AUTHORS   Chen WX, Cheng L, Xu LY, Qian Q and Zhu YL.
  TITLE     Bioinformatics analysis of prognostic value of TRIM13 gene in
            breast cancer
  JOURNAL   Biosci Rep 39 (3) (2019)
   PUBMED   30837324
  REMARK    GeneRIF: Results from bioinformatics analysis suggest that
            Tripartite motif 13 (TRIM13) may be adopted as a promising
            predictive biomarker for prognosis of breast cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 407)
  AUTHORS   Huang B, Pei HZ, Chang HW and Baek SH.
  TITLE     The E3 ubiquitin ligase Trim13 regulates Nur77 stability via casein
            kinase 2alpha
  JOURNAL   Sci Rep 8 (1), 13895 (2018)
   PUBMED   30224829
  REMARK    GeneRIF: The Trim13-mediated ubiquitination of Nur77 was optimal in
            the presence of the E2 enzyme UbcH5. Importantly, in addition to
            Trim13-mediated ubiquitination, the stability of Nur77 was also
            regulated by casein kinase 2alpha
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 407)
  AUTHORS   van Everdink WJ, Baranova A, Lummen C, Tyazhelova T, Looman MW,
            Ivanov D, Verlind E, Pestova A, Faber H, van der Veen AY, Yankovsky
            N, Vellenga E and Buys CH.
  TITLE     RFP2, c13ORF1, and FAM10A4 are the most likely tumor suppressor
            gene candidates for B-cell chronic lymphocytic leukemia
  JOURNAL   Cancer Genet Cytogenet 146 (1), 48-57 (2003)
   PUBMED   14499696
REFERENCE   7  (residues 1 to 407)
  AUTHORS   Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L,
            Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci
            S, Pelicci PG and Ballabio A.
  TITLE     The tripartite motif family identifies cell compartments
  JOURNAL   EMBO J 20 (9), 2140-2151 (2001)
   PUBMED   11331580
REFERENCE   8  (residues 1 to 407)
  AUTHORS   Migliazza A, Bosch F, Komatsu H, Cayanis E, Martinotti S, Toniato
            E, Guccione E, Qu X, Chien M, Murty VV, Gaidano G, Inghirami G,
            Zhang P, Fischer S, Kalachikov SM, Russo J, Edelman I, Efstratiadis
            A and Dalla-Favera R.
  TITLE     Nucleotide sequence, transcription map, and mutation analysis of
            the 13q14 chromosomal region deleted in B-cell chronic lymphocytic
            leukemia
  JOURNAL   Blood 97 (7), 2098-2104 (2001)
   PUBMED   11264177
REFERENCE   9  (residues 1 to 407)
  AUTHORS   Kapanadze B, Makeeva N, Corcoran M, Jareborg N, Hammarsund M,
            Baranova A, Zabarovsky E, Vorontsova O, Merup M, Gahrton G, Jansson
            M, Yankovsky N, Einhorn S, Oscier D, Grander D and Sangfelt O.
  TITLE     Comparative sequence analysis of a region on human chromosome
            13q14, frequently deleted in B-cell chronic lymphocytic leukemia,
            and its homologous region on mouse chromosome 14
  JOURNAL   Genomics 70 (3), 327-334 (2000)
   PUBMED   11161783
REFERENCE   10 (residues 1 to 407)
  AUTHORS   Kapanadze B, Kashuba V, Baranova A, Rasool O, van Everdink W, Liu
            Y, Syomov A, Corcoran M, Poltaraus A, Brodyansky V, Syomova N,
            Kazakov A, Ibbotson R, van den Berg A, Gizatullin R, Fedorova L,
            Sulimova G, Zelenin A, Deaven L, Lehrach H, Grander D, Buys C,
            Oscier D, Zabarovsky ER, Einhorn S and Yankovsky N.
  TITLE     A cosmid and cDNA fine physical map of a human chromosome 13q14
            region frequently lost in B-cell chronic lymphocytic leukemia and
            identification of a new putative tumor suppressor gene, Leu5
  JOURNAL   FEBS Lett 426 (2), 266-270 (1998)
   PUBMED   9599022
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY455758.1, KF455768.1 and
            AL832695.1.
            
            Summary: This gene encodes a member of the tripartite motif (TRIM)
            family. The TRIM motif includes three zinc-binding domains, a RING,
            a B-box type 1 and a B-box type 2, and a coiled-coil region. This
            gene is located on chromosome 13 within the minimal deletion region
            for B-cell chronic lymphocytic leukemia. Multiple alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same protein (isoform
            1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY455758.1, SRR1803612.133511.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378182.4/ ENSP00000367424.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..407
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.2"
     Protein         1..407
                     /product="E3 ubiquitin-protein ligase TRIM13 isoform 1"
                     /EC_number="2.3.2.27"
                     /note="ret finger protein 2; tripartite motif protein 13;
                     CLL-associated RING finger; tripartite motif-containing
                     protein 13; E3 ubiquitin-protein ligase TRIM13; RING
                     finger protein 77; leukemia-associated protein 5; putative
                     tumor suppressor RFP2; B-cell chronic lymphocytic leukemia
                     tumor suppressor Leu5; RING-type E3 ubiquitin transferase
                     TRIM13"
                     /calculated_mol_wt=46857
     Region          5..61
                     /region_name="RING-HC_TRIM13_C-V"
                     /note="RING finger, HC subclass, found in tripartite
                     motif-containing protein 13 (TRIM13) and similar proteins;
                     cd16762"
                     /db_xref="CDD:438418"
     Region          92..133
                     /region_name="Bbox2_TRIM13_C-XI"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein 13 (TRIM13) and similar proteins;
                     cd19767"
                     /db_xref="CDD:380825"
     Site            317..337
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60858.2)"
     CDS             1..407
                     /gene="TRIM13"
                     /gene_synonym="CAR; DLEU5; LEU5; RFP2; RNF77"
                     /coded_by="NM_213590.3:729..1952"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS9423.1"
                     /db_xref="GeneID:10206"
                     /db_xref="HGNC:HGNC:9976"
                     /db_xref="MIM:605661"
ORIGIN      
        1 melleedltc piccslfddp rvlpcshnfc kkclegileg svrnslwrpa pfkcptcrke
       61 tsatginslq vnyslkgive kynkikispk mpvckghlgq plnifcltdm qlicgicatr
      121 gehtkhvfcs iedayaqerd afeslfqsfe twrrgdalsr ldtletskrk slqlltkdsd
      181 kvkeffeklq htldqkknei lsdfetmkla vmqaydpein klntilqeqr mafniaeafk
      241 dvsepivflq qmqefrekik viketplpps nlpasplmkn fdtsqwedik lvdvdklslp
      301 qdtgtfiski pwsfyklfll illlglvivf gptmflewsl fddlatwkgc lsnfssyltk
      361 tadfieqsvf yweqvtdgff ifnerfknft lvvlnnvaef vckykll
//
LOCUS       NP_001533               1214 aa            linear   PRI 24-DEC-2022
DEFINITION  immunoglobulin superfamily member 3 isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_001533 XP_005270850
VERSION     NP_001533.2
DBSOURCE    REFSEQ: accession NM_001542.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1214)
  AUTHORS   Schweitzer KS, Jinawath N, Yonescu R, Ni K, Rush N, Charoensawan V,
            Bronova I, Berdyshev E, Leach SM, Gillenwater LA, Bowler RP, Pearse
            DB, Griffin CA and Petrache I.
  TITLE     IGSF3 mutation identified in patient with severe COPD alters cell
            function and motility
  JOURNAL   JCI Insight 5 (14), 138101 (2020)
   PUBMED   32573489
  REMARK    GeneRIF: IGSF3 mutation identified in patient with severe COPD
            alters cell function and motility.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1214)
  AUTHORS   Yuan Y, Yang L, Liu T, Zhang H and Lu Q.
  TITLE     Osteoclastogenesis inhibition by mutated IGSF23 results in human
            osteopetrosis
  JOURNAL   Cell Prolif 52 (6), e12693 (2019)
   PUBMED   31560140
  REMARK    GeneRIF: the IGSF23 mutation led to decreased c-Fos and NFATC1
            expression levels by inhibiting the mitogen-activated protein
            kinase signalling pathways
REFERENCE   3  (residues 1 to 1214)
  AUTHORS   Foster J 2nd, Kapoor S, Diaz-Horta O, Singh A, Abad C, Rastogi A,
            Moharana R, Tekeli O, Walz K and Tekin M.
  TITLE     Identification of an IGSF3 mutation in a family with congenital
            nasolacrimal duct obstruction
  JOURNAL   Clin Genet 86 (6), 589-591 (2014)
   PUBMED   24372406
  REMARK    GeneRIF: Based on IGSF3 mutation in a family with congenital
            nasolacrimal duct obstruction we conclude that the disruption of
            IGSF3 is the very likely cause of autosomal recessive nasolacrimal
            duct obstruction.
REFERENCE   4  (residues 1 to 1214)
  AUTHORS   Saupe S, Roizes G, Peter M, Boyle S, Gardiner K and De Sario A.
  TITLE     Molecular cloning of a human cDNA IGSF3 encoding an
            immunoglobulin-like membrane protein: expression and mapping to
            chromosome band 1p13
  JOURNAL   Genomics 52 (3), 305-311 (1998)
   PUBMED   9790749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC110651.1, AF031174.1,
            AB007935.2 and AI968231.1.
            On or before Sep 13, 2018 this sequence version replaced
            XP_005270850.1, NP_001533.1.
            
            Summary: The protein encoded by this gene is an immunoglobulin-like
            membrane protein containing several V-type Ig-like domains. A
            mutation in this gene has been associated with bilateral
            nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun
            2016].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            CDS exon combination :: AF031174.1 [ECO:0000331]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1214
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.1"
     Protein         1..1214
                     /product="immunoglobulin superfamily member 3 isoform 1
                     precursor"
                     /note="glu-Trp-Ile EWI motif-containing protein 3;
                     immunoglobin superfamily, member 3"
                     /calculated_mol_wt=135550
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1985
     Region          32..132
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          38..42
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Site            43
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O75054.3)"
     Region          103..107
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          152..251
                     /region_name="IgV"
                     /note="Immunoglobulin variable domain (IgV); cd00099"
                     /db_xref="CDD:409355"
     Region          155..157
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409355"
     Region          161..169
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409355"
     Region          169..179
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409355"
     Site            order(179..180,182,249)
                     /site_type="other"
                     /note="antigen binding site [polypeptide binding]"
                     /db_xref="CDD:409355"
     Region          180..194
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409355"
     Region          180..186
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409355"
     Region          192..195
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409355"
     Region          195..219
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409355"
     Region          219..224
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409355"
     Region          220..248
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409355"
     Region          228..234
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409355"
     Region          242..249
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409355"
     Region          250..252
                     /region_name="EWI motif"
                     /note="propagated from UniProtKB/Swiss-Prot (O75054.3)"
     Region          293..389
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          298..306
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          315..319
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          356..363
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          373..378
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            438
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O75054.3)"
     Region          441..534
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Site            675
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O75054.3)"
     Region          707..804
                     /region_name="V-set"
                     /note="Immunoglobulin V-set domain; pfam07686"
                     /db_xref="CDD:429596"
     Region          717..721
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          730..738
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          785..789
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          799..809
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          841..940
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            862
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O75054.3)"
     Region          871..875
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          921..925
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          935..940
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1017..1053
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75054.3)"
     Site            1097
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O75054.3)"
     Site            1145..1165
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75054.3)"
     CDS             1..1214
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /coded_by="NM_001542.4:769..4413"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS30814.1"
                     /db_xref="GeneID:3321"
                     /db_xref="HGNC:HGNC:5950"
                     /db_xref="MIM:603491"
ORIGIN      
        1 mkcffpvlsc lavlgvvsaq rqvtvqegpl yrtegshiti wcnvsgyqgp seqnfqwsiy
       61 lpssperevq ivstmdssfp yaiytqrvrg gkifiervqg nstllhitdl qardageyec
      121 htpstdkqyf gsysakmnlv vipdslqtta mpqtlhrveq dpleltceva setiqhshls
      181 vawlrqkvge kpvevislsr dfmlhsssey aqrqslgevr ldklgrttfr ltifhlqpsd
      241 qgefyceaae wiqdpdgswy amtrkrsega vvnvqptdke ftvrletekr lhtvgepvef
      301 rcileaqnvp dryfavswaf nssliatmgp navpvlnsef ahreargqlk vakesdsvfv
      361 lkiyhlrqed sgkyncrvte rektvtgefi dkeskrpkni piivlpltdn wvvkvpqhhq
      421 llsqghless isvevasnas vilegedlrf scsvrtagrp qgrfsviwql vdrqnrrsni
      481 mwldrdgtvq pgssywerss fggvqmeqvq pnsfslgifn srkedegqye chvtewvrav
      541 dgewqivger rastpisita lemgfavtai srtpgvtysd sfdlqciikp hypawvpvsv
      601 twrfqpvgtv efhdlvtftr dggvqwgdrs ssfrtrtaie kaessnnvrl sisrasdtea
      661 gkyqcvaelw rknynntwtr laertsnlle irvlqpvtkl qvskskrtlt lvenkpiqln
      721 csvksqtsqn shfavlwyvh kpsdadgkli lktthnsafe ygtyaeeegl rarlqferhv
      781 sgglfsltvq raevsdsgsy ychveewlls pnyawyklae evsgrtevtv kqpdsrlrls
      841 qaqgnlsvle trqvqlecvv lnrtsitsql mvewfvwkpn hperetvarl srdatfhyge
      901 qaaknnlkgr lhlespspgv yrlfiqnvav qdsgtyschv eewlpspsgm wykraedtag
      961 qtaltvmrpd aslqvdtvvp natvsekaaf qldcsivsrs sqdsrfavaw yslrtkaggk
     1021 rsspgleeqe eereeeeeed ddddddpter tallsvgpda vfgpegspwe grlrfqrlsp
     1081 vlyrltvlqa spqdtgnysc hveewlpspq kewyrlteee sapigirvld tsptlqsiic
     1141 sndalfyfvf fypfpifgil iitillvrfk srnssknsdg kngvpllwik ephlnysptc
     1201 leppvlsihp gaid
//
LOCUS       NP_002092                128 aa            linear   PRI 24-DEC-2022
DEFINITION  glycophorin-C isoform 1 [Homo sapiens].
ACCESSION   NP_002092 XP_945454
VERSION     NP_002092.1
DBSOURCE    REFSEQ: accession NM_002101.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 128)
  AUTHORS   Lin JJ, Loucks CM, Trueman JN, Drogemoller BI, Wright GEB, Yoshida
            EM, Ford JA, Lee SS, Kim RB, Al-Judaibi B, Schwarz UI, Ramji A, Tam
            E, Ross CJ and Carleton BC.
  TITLE     Novel variant in glycophorin c gene protects against
            ribavirin-induced anemia during chronic hepatitis C treatment
  JOURNAL   Biomed Pharmacother 143, 112195 (2021)
   PUBMED   34562771
  REMARK    GeneRIF: Novel variant in glycophorin c gene protects against
            ribavirin-induced anemia during chronic hepatitis C treatment.
REFERENCE   2  (residues 1 to 128)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 128)
  AUTHORS   Klei TRL, de Back DZ, Asif PJ, Verkuijlen PJJH, Veldthuis M,
            Ligthart PC, Berghuis J, Clifford E, Beuger BM, van den Berg TK,
            van Zwieten R, El Nemer W and van Bruggen R.
  TITLE     Glycophorin-C sialylation regulates Lu/BCAM adhesive capacity
            during erythrocyte aging
  JOURNAL   Blood Adv 2 (1), 14-24 (2018)
   PUBMED   29344581
  REMARK    GeneRIF: Lu/BCAM-mediated binding to laminin-alpha5 is restricted
            by interacting, in cis, with glycophorin-C-derived sialic acid
            residues.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 128)
  AUTHORS   Lobo CA, Rodriguez M, Reid M and Lustigman S.
  TITLE     Glycophorin C is the receptor for the Plasmodium falciparum
            erythrocyte binding ligand PfEBP-2 (baebl)
  JOURNAL   Blood 101 (11), 4628-4631 (2003)
   PUBMED   12576308
  REMARK    GeneRIF: Glycophorin C is identified as the receptor for PfEBP-2,
            the erythrocyte binding ligand of Plasmodium falciparum, and the
            binding domain on GPC is determined to be amino acid residues 14
            through 22 within exon 2.
REFERENCE   5  (residues 1 to 128)
  AUTHORS   Maier AG, Duraisingh MT, Reeder JC, Patel SS, Kazura JW, Zimmerman
            PA and Cowman AF.
  TITLE     Plasmodium falciparum erythrocyte invasion through glycophorin C
            and selection for Gerbich negativity in human populations
  JOURNAL   Nat Med 9 (1), 87-92 (2003)
   PUBMED   12469115
  REMARK    GeneRIF: Data show that the receptor for Plasmodium falciparum
            erythrocyte-binding antigen 140 (EBA140) is glycophorin C (GYPC)
            and that this interaction mediates a principal P. falciparum
            invasion pathway into human erythrocytes.
REFERENCE   6  (residues 1 to 128)
  AUTHORS   King MJ, Avent ND, Mallinson G and Reid ME.
  TITLE     Point mutation in the glycophorin C gene results in the expression
            of the blood group antigen Dha
  JOURNAL   Vox Sang 63 (1), 56-58 (1992)
   PUBMED   1413665
REFERENCE   7  (residues 1 to 128)
  AUTHORS   Chang S, Reid ME, Conboy J, Kan YW and Mohandas N.
  TITLE     Molecular characterization of erythrocyte glycophorin C variants
  JOURNAL   Blood 77 (3), 644-648 (1991)
   PUBMED   1991173
REFERENCE   8  (residues 1 to 128)
  AUTHORS   Spring FA.
  TITLE     Immunochemical characterisation of the low-incidence antigen, Dha
  JOURNAL   Vox Sang 61 (1), 65-68 (1991)
   PUBMED   1719701
REFERENCE   9  (residues 1 to 128)
  AUTHORS   Colin Y, Le Van Kim C, Tsapis A, Clerget M, d'Auriol L, London J,
            Galibert F and Cartron JP.
  TITLE     Human erythrocyte glycophorin C. Gene structure and rearrangement
            in genetic variants
  JOURNAL   J Biol Chem 264 (7), 3773-3780 (1989)
   PUBMED   2917976
REFERENCE   10 (residues 1 to 128)
  AUTHORS   Mattei,M.G., Colin,Y., Le Van Kim,C., Mattei,J.F. and Cartron,J.P.
  TITLE     Localization of the gene for human erythrocyte glycophorin C to
            chromosome 2, q14-q21
  JOURNAL   Hum Genet 74 (4), 420-422 (1986)
   PUBMED   3793105
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC106051.1 and AC013474.10.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 4, 2006 this sequence version replaced XP_945454.1.
            
            Summary: Glycophorin C (GYPC) is an integral membrane glycoprotein.
            It is a minor species carried by human erythrocytes, but plays an
            important role in regulating the mechanical stability of red cells.
            A number of glycophorin C mutations have been described. The
            Gerbich and Yus phenotypes are due to deletion of exon 3 and 2,
            respectively. The Webb and Duch antigens, also known as glycophorin
            D, result from single point mutations of the glycophorin C gene.
            The glycophorin C protein has very little homology with
            glycophorins A and B. Alternate splicing results in multiple
            transcript variants. [provided by RefSeq, Feb 2012].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC106051.1, X12496.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259254.9/ ENSP00000259254.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..128
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.3"
     Protein         1..128
                     /product="glycophorin-C isoform 1"
                     /note="glycophorin-D; glycoconnectin; glycoprotein beta;
                     sialoglycoprotein D; Gerbich blood group antigen"
                     /calculated_mol_wt=13680
     Region          1..48
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P04921.1)"
     Site            3
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:3571235,
                     ECO:0000269|PubMed:7106126; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     Site            4
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3571235,
                     ECO:0000269|PubMed:7106126; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     Site            6
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:3571235,
                     ECO:0000269|PubMed:7106126; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     Site            8
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:7106126; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     Site            8
                     /site_type="other"
                     /note="Not glycosylated, in variant Webb antigen;
                     propagated from UniProtKB/Swiss-Prot (P04921.1)"
     Site            9
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:7106126; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     Site            10
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:7106126; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     Site            15
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:3571235,
                     ECO:0000269|PubMed:7106126; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     Site            24
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:3571235,
                     ECO:0000269|PubMed:7106126; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     Site            26
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:3571235,
                     ECO:0000269|PubMed:7106126; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     Site            27
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3571235,
                     ECO:0000269|PubMed:7106126; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     Site            28
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3571235,
                     ECO:0000269|PubMed:7106126; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     Site            31
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3571235,
                     ECO:0000269|PubMed:7106126; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     Site            32
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3571235,
                     ECO:0000269|PubMed:7106126; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     Site            33
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3571235,
                     ECO:0000269|PubMed:7106126; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     Site            42
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:22171320,
                     ECO:0000269|PubMed:3571235, ECO:0000269|PubMed:7106126;
                     propagated from UniProtKB/Swiss-Prot (P04921.1)"
     Site            58..81
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P04921.1)"
     Region          80..98
                     /region_name="4.1m"
                     /note="putative band 4.1 homologues' binding motif;
                     smart00294"
                     /db_xref="CDD:128590"
     Site            104
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     Region          108..128
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P04921.1)"
     Site            122
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04921.1)"
     CDS             1..128
                     /gene="GYPC"
                     /gene_synonym="CD236; CD236R; GE; GPC; GPD; GYPD; PAS-2;
                     PAS-2'"
                     /coded_by="NM_002101.5:107..493"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2136.1"
                     /db_xref="GeneID:2995"
                     /db_xref="HGNC:HGNC:4704"
                     /db_xref="MIM:110750"
ORIGIN      
        1 mwstrspnst awplslepdp gmasasttmh tttiaepdpg msgwpdgrme tstptimdiv
       61 viagviaava ivlvsllfvm lrymyrhkgt yhtneakgte faesadaalq gdpalqdagd
      121 ssrkeyfi
//
LOCUS       NP_057699                602 aa            linear   PRI 24-DEC-2022
DEFINITION  sodium- and chloride-dependent GABA transporter 2 isoform 1 [Homo
            sapiens].
ACCESSION   NP_057699
VERSION     NP_057699.2
DBSOURCE    REFSEQ: accession NM_016615.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 602)
  AUTHORS   Sweeney MD, Zhao Z, Montagne A, Nelson AR and Zlokovic BV.
  TITLE     Blood-Brain Barrier: From Physiology to Disease and Back
  JOURNAL   Physiol Rev 99 (1), 21-78 (2019)
   PUBMED   30280653
  REMARK    Review article
REFERENCE   2  (residues 1 to 602)
  AUTHORS   Tachikawa M, Yashiki A, Akanuma SI, Matsukawa H, Ide S, Minami M
            and Hosoya KI.
  TITLE     Astrocytic gamma-aminobutyric acid (GABA) transporters mediate
            guanidinoacetate transport in rat brain
  JOURNAL   Neurochem Int 113, 1-7 (2018)
   PUBMED   29175673
REFERENCE   3  (residues 1 to 602)
  AUTHORS   Willford SL, Anderson CM, Spencer SR and Eskandari S.
  TITLE     Evidence for a Revised Ion/Substrate Coupling Stoichiometry of GABA
            Transporters
  JOURNAL   J Membr Biol 248 (4), 795-810 (2015)
   PUBMED   25824654
  REMARK    GeneRIF: Evidence for a Revised Ion/Substrate Coupling
            Stoichiometry of GABA Transporters.
REFERENCE   4  (residues 1 to 602)
  AUTHORS   Schlessinger A, Wittwer MB, Dahlin A, Khuri N, Bonomi M, Fan H,
            Giacomini KM and Sali A.
  TITLE     High selectivity of the gamma-aminobutyric acid transporter 2
            (GAT-2, SLC6A13) revealed by structure-based approach
  JOURNAL   J Biol Chem 287 (45), 37745-37756 (2012)
   PUBMED   22932902
  REMARK    GeneRIF: Results suggest that gamma-aminobutyric acid transporter 2
            GAT-2 is a high selectivity/low affinity transporter.
REFERENCE   5  (residues 1 to 602)
  AUTHORS   Pallo A, Simon A, Bencsura A, Heja L and Kardos J.
  TITLE     Substrate-Na+ complex formation: coupling mechanism for
            gamma-aminobutyrate symporters
  JOURNAL   Biochem Biophys Res Commun 385 (2), 210-214 (2009)
   PUBMED   19450549
  REMARK    GeneRIF: homology models of hGAT-2 and hGAT-3 were built and
            searched for (i) substrate conformation, (ii) prediction of
            substrate (inhibitor) interaction, and (iii) distinguishable
            allosteric Zn2+ inhibition by combining docking and MD
            calculations.
REFERENCE   6  (residues 1 to 602)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (residues 1 to 602)
  AUTHORS   Christiansen B, Meinild AK, Jensen AA and Brauner-Osborne H.
  TITLE     Cloning and characterization of a functional human
            gamma-aminobutyric acid (GABA) transporter, human GAT-2
  JOURNAL   J Biol Chem 282 (27), 19331-19341 (2007)
   PUBMED   17502375
REFERENCE   8  (residues 1 to 602)
  AUTHORS   Hoglund PJ, Adzic D, Scicluna SJ, Lindblom J and Fredriksson R.
  TITLE     The repertoire of solute carriers of family 6: identification of
            new human and rodent genes
  JOURNAL   Biochem Biophys Res Commun 336 (1), 175-189 (2005)
   PUBMED   16125675
REFERENCE   9  (residues 1 to 602)
  AUTHORS   Gong Y, Zhang M, Cui L and Minuk GY.
  TITLE     Sequence and chromosomal assignment of a human novel cDNA:
            similarity to gamma-aminobutyric acid transporter
  JOURNAL   Can J Physiol Pharmacol 79 (12), 977-984 (2001)
   PUBMED   11824941
REFERENCE   10 (residues 1 to 602)
  AUTHORS   Borden LA, Smith KE, Hartig PR, Branchek TA and Weinshank RL.
  TITLE     Molecular heterogeneity of the gamma-aminobutyric acid (GABA)
            transport system. Cloning of two novel high affinity GABA
            transporters from rat brain
  JOURNAL   J Biol Chem 267 (29), 21098-21104 (1992)
   PUBMED   1400419
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA374290.1, AK313511.1, BM662288.1 and DB540466.1.
            On Jun 10, 2002 this sequence version replaced NP_057699.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC022392.1, SRR1803616.100337.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000343164.9/ ENSP00000339260.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..602
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.33"
     Protein         1..602
                     /product="sodium- and chloride-dependent GABA transporter
                     2 isoform 1"
                     /note="GABA transport protein; sodium- and
                     chloride-dependent GABA transporter 2; solute carrier
                     family 6 (neurotransmitter transporter, GABA), member 13;
                     solute carrier family 6 (neurotransmitter transporter),
                     member 13"
                     /calculated_mol_wt=67878
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Region          32..575
                     /region_name="SLC6sbd_GAT2"
                     /note="Na(+)- and Cl(-)-dependent GABA transporter 2;
                     solute-binding domain; cd11507"
                     /db_xref="CDD:271396"
     Site            41..61
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Site            order(47,50,386,389..390)
                     /site_type="other"
                     /note="Na binding site 2 [ion binding]"
                     /db_xref="CDD:271396"
     Site            order(48..49,51..54,129,288..289,294,296,390,393..394)
                     /site_type="other"
                     /note="putative substrate binding site 1 [chemical
                     binding]"
                     /db_xref="CDD:271396"
     Site            order(49,54,289,321)
                     /site_type="other"
                     /note="Na binding site 1 [ion binding]"
                     /db_xref="CDD:271396"
     Site            order(56..57,128,132,135,355,359)
                     /site_type="other"
                     /note="putative substrate binding site 2 [chemical
                     binding]"
                     /db_xref="CDD:271396"
     Site            68..88
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Site            121..141
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Site            173
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Site            207..227
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Site            233..253
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Site            269
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Site            282..302
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Site            319..339
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Site            366..386
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Site            418..438
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Site            453..473
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Site            490..510
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Site            528..548
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Site            587
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P31649; propagated from
                     UniProtKB/Swiss-Prot (Q9NSD5.3)"
     Site            591
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P31649; propagated from
                     UniProtKB/Swiss-Prot (Q9NSD5.3)"
     CDS             1..602
                     /gene="SLC6A13"
                     /gene_synonym="GAT-2; GAT2; GAT3"
                     /coded_by="NM_016615.5:54..1862"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS8502.1"
                     /db_xref="GeneID:6540"
                     /db_xref="HGNC:HGNC:11046"
                     /db_xref="MIM:615097"
ORIGIN      
        1 mdsrvsgtts ngetkpvypv mekkeedgtl erghwnnkme fvlsvageii glgnvwrfpy
       61 lcykngggaf fipylvflft cgipvfllet algqytsqgg vtawrkicpi fegigyasqm
      121 ivillnvyyi ivlawalfyl fssftidlpw ggcyhewnte hcmefqktng slngtsenat
      181 spviefwerr vlkisdgiqh lgalrwelal clllawvicy fciwkgvkst gkvvyftatf
      241 pylmlvvlli rgvtlpgaaq giqfylypnl trlwdpqvwm dagtqiffsf aiclgcltal
      301 gsynkyhnnc yrdcialcfl nsgtsfvagf aifsilgfms qeqgvpisev aesgpglafi
      361 aypravvmlp fsplwaccff fmvvllglds qfvcveslvt alvdmyphvf rkknrrevli
      421 lgvsvvsflv glimlteggm yvfqlfdyya asgmcllfva ifeslcvawv ygakrfydni
      481 edmigyrpwp likycwlflt pavctatflf slikytplty nkkytypwwg dalgwllals
      541 smvcipawsl yrlgtlkgpf rerirqlmcp aedlpqrnpa gpsapatprt sllrlteles
      601 hc
//
LOCUS       NP_003074                334 aa            linear   PRI 25-DEC-2022
DEFINITION  snRNA-activating protein complex subunit 2 [Homo sapiens].
ACCESSION   NP_003074
VERSION     NP_003074.1
DBSOURCE    REFSEQ: accession NM_003083.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 334)
  AUTHORS   Harrigan JA, Belotserkovskaya R, Coates J, Dimitrova DS, Polo SE,
            Bradshaw CR, Fraser P and Jackson SP.
  TITLE     Replication stress induces 53BP1-containing OPT domains in G1 cells
  JOURNAL   J Cell Biol 193 (1), 97-108 (2011)
   PUBMED   21444690
  REMARK    GeneRIF: The findings invoke a model wherein incomplete DNA
            synthesis during S phase leads to a DNA damage response and
            formation of 53BP1-OPT domains in the subsequent G1.
REFERENCE   2  (residues 1 to 334)
  AUTHORS   Shanmugam M and Hernandez N.
  TITLE     Mitotic functions for SNAP45, a subunit of the small nuclear
            RNA-activating protein complex SNAPc
  JOURNAL   J Biol Chem 283 (21), 14845-14856 (2008)
   PUBMED   18356157
  REMARK    GeneRIF: SNAP45 plays two roles in the cell, one as a subunit of
            the transcription factor SNAP(c) and another as a factor required
            for proper mitotic progression
REFERENCE   3  (residues 1 to 334)
  AUTHORS   Emran F, Florens L, Ma B, Swanson SK, Washburn MP and Hernandez N.
  TITLE     A role for Yin Yang-1 (YY1) in the assembly of snRNA transcription
            complexes
  JOURNAL   Gene 377, 96-108 (2006)
   PUBMED   16769183
REFERENCE   4  (residues 1 to 334)
  AUTHORS   Hinkley CS, Hirsch HA, Gu L, LaMere B and Henry RW.
  TITLE     The small nuclear RNA-activating protein 190 Myb DNA binding domain
            stimulates TATA box-binding protein-TATA box recognition
  JOURNAL   J Biol Chem 278 (20), 18649-18657 (2003)
   PUBMED   12621023
REFERENCE   5  (residues 1 to 334)
  AUTHORS   Acierno JS Jr, Kennedy JC, Falardeau JL, Leyne M, Bromley MC,
            Colman MW, Sun M, Bove C, Ashworth LK, Chadwick LH, Schiripo T, Ma
            S, Goldin E, Schiffmann R and Slaugenhaupt SA.
  TITLE     A physical and transcript map of the MCOLN1 gene region on human
            chromosome 19p13.3-p13.2
  JOURNAL   Genomics 73 (2), 203-210 (2001)
   PUBMED   11318610
REFERENCE   6  (residues 1 to 334)
  AUTHORS   Wong MW, Henry RW, Ma B, Kobayashi R, Klages N, Matthias P, Strubin
            M and Hernandez N.
  TITLE     The large subunit of basal transcription factor SNAPc is a Myb
            domain protein that interacts with Oct-1
  JOURNAL   Mol Cell Biol 18 (1), 368-377 (1998)
   PUBMED   9418884
REFERENCE   7  (residues 1 to 334)
  AUTHORS   Henry RW, Ma B, Sadowski CL, Kobayashi R and Hernandez N.
  TITLE     Cloning and characterization of SNAP50, a subunit of the
            snRNA-activating protein complex SNAPc
  JOURNAL   EMBO J 15 (24), 7129-7136 (1996)
   PUBMED   9003788
REFERENCE   8  (residues 1 to 334)
  AUTHORS   Sadowski CL, Henry RW, Kobayashi R and Hernandez N.
  TITLE     The SNAP45 subunit of the small nuclear RNA (snRNA) activating
            protein complex is required for RNA polymerase II and III snRNA
            gene transcription and interacts with the TATA box binding protein
  JOURNAL   Proc Natl Acad Sci U S A 93 (9), 4289-4293 (1996)
   PUBMED   8633057
REFERENCE   9  (residues 1 to 334)
  AUTHORS   Yoon JB and Roeder RG.
  TITLE     Cloning of two proximal sequence element-binding transcription
            factor subunits (gamma and delta) that are required for
            transcription of small nuclear RNA genes by RNA polymerases II and
            III and interact with the TATA-binding protein
  JOURNAL   Mol Cell Biol 16 (1), 1-9 (1996)
   PUBMED   8524284
REFERENCE   10 (residues 1 to 334)
  AUTHORS   Henry RW, Sadowski CL, Kobayashi R and Hernandez N.
  TITLE     A TBP-TAF complex required for transcription of human snRNA genes
            by RNA polymerase II and III
  JOURNAL   Nature 374 (6523), 653-656 (1995)
   PUBMED   7715707
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U44755.1 and AC010336.8.
            
            Summary: This gene encodes a subunit of the snRNA-activating
            protein complex which is associated with the TATA box-binding
            protein. The encoded protein is necessary for RNA polymerase II and
            III dependent small-nuclear RNA gene transcription. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Nov 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the functional protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U44755.1, SRR3476690.130996.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000221573.11/ ENSP00000221573.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..334
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     Protein         1..334
                     /product="snRNA-activating protein complex subunit 2"
                     /note="proximal sequence element-binding transcription
                     factor subunit delta; PSE-binding factor subunit delta;
                     PTF subunit delta; SNAPC 45 kDa subunit; SNAPc subunit 2;
                     snRNA-activating protein complex 45 kDa subunit; small
                     nuclear RNA activating complex, polypeptide 2, 45kD; small
                     nuclear RNA activating complex, polypeptide 2, 45kDa"
                     /calculated_mol_wt=35425
     Region          14..334
                     /region_name="SnAPC_2_like"
                     /note="Small nuclear RNA activating complex subunit 2,
                     SNAP190 Myb; pfam11035"
                     /db_xref="CDD:431620"
     Region          137..200
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13487.1)"
     Region          271..306
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13487.1)"
     CDS             1..334
                     /gene="SNAPC2"
                     /gene_synonym="PTFDELTA; SNAP45"
                     /coded_by="NM_003083.4:30..1034"
                     /db_xref="CCDS:CCDS12190.1"
                     /db_xref="GeneID:6618"
                     /db_xref="HGNC:HGNC:11135"
                     /db_xref="MIM:605076"
ORIGIN      
        1 mkppprrraa parylgevtg patwsarekr qlvrllqarq gqpepdatel arelrgrsea
       61 eirvflqqlk grvareaiqk vhpgglqgpr rreaqppapi evwtdlaeki tgpleealav
      121 afsqvltiaa tepvtllhsk ppkptqargk plllsapggq edpapeipss apaapssapr
      181 tpdpapekps essagpstee dfavdfekiy kylssvsrsg rspelsaaes avvldllmsl
      241 peelpllpct alvehmtety lrltapqpip aggslgpaae gdgagskape etppatekae
      301 hselkspwqa agicplnpfl vplellgraa tpar
//
LOCUS       NP_071448                207 aa            linear   PRI 25-DEC-2022
DEFINITION  protein lin-7 homolog B isoform 1 [Homo sapiens].
ACCESSION   NP_071448
VERSION     NP_071448.1
DBSOURCE    REFSEQ: accession NM_022165.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 207)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 207)
  AUTHORS   Mizuno M, Matsumoto A, Hamada N, Ito H, Miyauchi A, Jimbo EF, Momoi
            MY, Tabata H, Yamagata T and Nagata K.
  TITLE     Role of an adaptor protein Lin-7B in brain development: possible
            involvement in autism spectrum disorders
  JOURNAL   J Neurochem 132 (1), 61-69 (2015)
   PUBMED   25196215
  REMARK    GeneRIF: functional deficiency in Lin-7B could be implicated in
            clinical phenotypes in some autism spectrum disorders patients
            through bringing about abnormal cortical architecture
REFERENCE   3  (residues 1 to 207)
  AUTHORS   Zucker B, Kama JA, Kuhn A, Thu D, Orlando LR, Dunah AW, Gokce O,
            Taylor DM, Lambeck J, Friedrich B, Lindenberg KS, Faull RL, Weiller
            C, Young AB and Luthi-Carter R.
  TITLE     Decreased Lin7b expression in layer 5 pyramidal neurons may
            contribute to impaired corticostriatal connectivity in huntington
            disease
  JOURNAL   J Neuropathol Exp Neurol 69 (9), 880-895 (2010)
   PUBMED   20720508
  REMARK    GeneRIF: Data suggest that decreased cortical LIN7b expression may
            contribute to abnormal corticostriatal connectivity in Huntington
            disease.
REFERENCE   4  (residues 1 to 207)
  AUTHORS   Lanktree M, Squassina A, Krinsky M, Strauss J, Jain U, Macciardi F,
            Kennedy JL and Muglia P.
  TITLE     Association study of brain-derived neurotrophic factor (BDNF) and
            LIN-7 homolog (LIN-7) genes with adult
            attention-deficit/hyperactivity disorder
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 147B (6), 945-951 (2008)
   PUBMED   18286632
  REMARK    GeneRIF: Allelic and haplotype association was found between both
            BDNF and adult ADHD, and LIN-7 and adult ADHD.
REFERENCE   5  (residues 1 to 207)
  AUTHORS   Bohl J, Brimer N, Lyons C and Vande Pol SB.
  TITLE     The stardust family protein MPP7 forms a tripartite complex with
            LIN7 and DLG1 that regulates the stability and localization of DLG1
            to cell junctions
  JOURNAL   J Biol Chem 282 (13), 9392-9400 (2007)
   PUBMED   17237226
REFERENCE   6  (residues 1 to 207)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   7  (residues 1 to 207)
  AUTHORS   Coussen F, Normand E, Marchal C, Costet P, Choquet D, Lambert M,
            Mege RM and Mulle C.
  TITLE     Recruitment of the kainate receptor subunit glutamate receptor 6 by
            cadherin/catenin complexes
  JOURNAL   J Neurosci 22 (15), 6426-6436 (2002)
   PUBMED   12151522
REFERENCE   8  (residues 1 to 207)
  AUTHORS   Olsen O, Liu H, Wade JB, Merot J and Welling PA.
  TITLE     Basolateral membrane expression of the Kir 2.3 channel is
            coordinated by PDZ interaction with Lin-7/CASK complex
  JOURNAL   Am J Physiol Cell Physiol 282 (1), C183-C195 (2002)
   PUBMED   11742811
REFERENCE   9  (residues 1 to 207)
  AUTHORS   Jo K, Derin R, Li M and Bredt DS.
  TITLE     Characterization of MALS/Velis-1, -2, and -3: a family of mammalian
            LIN-7 homologs enriched at brain synapses in association with the
            postsynaptic density-95/NMDA receptor postsynaptic complex
  JOURNAL   J Neurosci 19 (11), 4189-4199 (1999)
   PUBMED   10341223
REFERENCE   10 (residues 1 to 207)
  AUTHORS   Butz S, Okamoto M and Sudhof TC.
  TITLE     A tripartite protein complex with the potential to couple synaptic
            vesicle exocytosis to cell adhesion in brain
  JOURNAL   Cell 94 (6), 773-782 (1998)
   PUBMED   9753324
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY358744.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY358744.1, SRR5189661.15876.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000221459.7/ ENSP00000221459.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..207
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..207
                     /product="protein lin-7 homolog B isoform 1"
                     /note="protein lin-7 homolog B; hLin7B; hVeli2; veli-2;
                     vertebrate lin-7 homolog 2; mammalian lin-seven protein 2"
                     /calculated_mol_wt=22765
     Region          1..13
                     /region_name="Kinase interacting site.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HAP6.1)"
     Region          15..68
                     /region_name="L27"
                     /note="domain in receptor targeting proteins Lin-2 and
                     Lin-7; smart00569"
                     /db_xref="CDD:197794"
     Region          91..172
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(102..105,107,156..157,160..161)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          187..207
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HAP6.1)"
     CDS             1..207
                     /gene="LIN7B"
                     /gene_synonym="LIN-7B; MALS-2; MALS2; VELI2"
                     /coded_by="NM_022165.3:36..659"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS12757.1"
                     /db_xref="GeneID:64130"
                     /db_xref="HGNC:HGNC:17788"
                     /db_xref="MIM:612331"
ORIGIN      
        1 maalveplgl erdvsravel lerlqrsgel ppqklqalqr vlqsrfcsai revyeqlydt
       61 lditgsaeir ahatakatva aftaseghah prvvelpktd eglgfnimgg keqnspiyis
      121 rvipggvadr hgglkrgdql lsvngvsveg eqhekavell kaaqgsvklv vrytprvlee
      181 mearfekmrs arrrqqhqsy sslesrg
//
LOCUS       NP_001906                251 aa            linear   PRI 25-DEC-2022
DEFINITION  transmembrane ascorbate-dependent reductase CYB561 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001906
VERSION     NP_001906.3
DBSOURCE    REFSEQ: accession NM_001915.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 251)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 251)
  AUTHORS   van den Berg MP, Almomani R, Biaggioni I, van Faassen M, van der
            Harst P, Sillje HHW, Mateo Leach I, Hemmelder MH, Navis G, Luijckx
            GJ, de Brouwer APM, Venselaar H, Verbeek MM, van der Zwaag PA,
            Jongbloed JDH, van Tintelen JP, Wevers RA and Kema IP.
  TITLE     Mutations in CYB561 Causing a Novel Orthostatic Hypotension
            Syndrome
  JOURNAL   Circ Res 122 (6), 846-854 (2018)
   PUBMED   29343526
  REMARK    GeneRIF: Mutations in CYB561 cause a novel othostatic hypotension
            syndrome.
REFERENCE   3  (residues 1 to 251)
  AUTHORS   Kauwe JS, Bailey MH, Ridge PG, Perry R, Wadsworth ME, Hoyt KL,
            Staley LA, Karch CM, Harari O, Cruchaga C, Ainscough BJ, Bales K,
            Pickering EH, Bertelsen S, Fagan AM, Holtzman DM, Morris JC and
            Goate AM.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Genome-wide association study of CSF levels of 59 alzheimer's
            disease candidate proteins: significant associations with proteins
            involved in amyloid processing and inflammation
  JOURNAL   PLoS Genet 10 (10), e1004758 (2014)
   PUBMED   25340798
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 251)
  AUTHORS   Zhang K, Deacon DC, Rao F, Schork AJ, Fung MM, Waalen J, Schork NJ,
            Nievergelt CM, Chi NC and O'Connor DT.
  TITLE     Human heart rate: heritability of resting and stress values in twin
            pairs, and influence of genetic variation in the adrenergic pathway
            at a microribonucleic acid (microrna) motif in the 3'-UTR of
            cytochrome b561 [corrected]
  JOURNAL   J Am Coll Cardiol 63 (4), 358-368 (2014)
   PUBMED   24140660
  REMARK    GeneRIF: We studied hereditary control of HR with the twin pair
            design, at rest and during environmental (cold) stress. Single
            nucleotide polymorphism disruption of a microribonucleic acid
            (microRNA) recognition motif in the human CYB561 3'-UTR was
            identified .
            Erratum:[J Am Coll Cardiol. 2014 Mar 25;63(11):1122]
REFERENCE   5  (residues 1 to 251)
  AUTHORS   Asard H, Barbaro R, Trost P and Berczi A.
  TITLE     Cytochromes b561: ascorbate-mediated trans-membrane electron
            transport
  JOURNAL   Antioxid Redox Signal 19 (9), 1026-1035 (2013)
   PUBMED   23249217
  REMARK    Review article
REFERENCE   6  (residues 1 to 251)
  AUTHORS   Bashtovyy D, Berczi A, Asard H and Pali T.
  TITLE     Structure prediction for the di-heme cytochrome b561 protein family
  JOURNAL   Protoplasma 221 (1-2), 31-40 (2003)
   PUBMED   12768339
  REMARK    GeneRIF: structural features in the cyt b(561) family are well
            conserved at both the sequence and the protein level
REFERENCE   7  (residues 1 to 251)
  AUTHORS   Srivastava M.
  TITLE     Genomic structure and expression of the human gene encoding
            cytochrome b561, an integral protein of the chromaffin granule
            membrane
  JOURNAL   J Biol Chem 270 (39), 22714-22720 (1995)
   PUBMED   7559396
REFERENCE   8  (residues 1 to 251)
  AUTHORS   Srivastava M, Gibson KR, Pollard HB and Fleming PJ.
  TITLE     Human cytochrome b561: a revised hypothesis for conformation in
            membranes which reconciles sequence and functional information
  JOURNAL   Biochem J 303 (Pt 3) (Pt 3), 915-921 (1994)
   PUBMED   7980462
REFERENCE   9  (residues 1 to 251)
  AUTHORS   McBride OW, Yi HF and Srivastava M.
  TITLE     The human cytochrome b561 gene (CYB561) is located at 17q11-qter
  JOURNAL   Genomics 21 (3), 662-663 (1994)
   PUBMED   7959749
REFERENCE   10 (residues 1 to 251)
  AUTHORS   Duong,L.T. and Fleming,P.J.
  TITLE     Isolation and properties of cytochrome b561 from bovine adrenal
            chromaffin granules
  JOURNAL   J Biol Chem 257 (15), 8561-8564 (1982)
   PUBMED   7096323
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM552101.1, BC002976.1 and BC091485.1.
            On May 5, 2005 this sequence version replaced NP_001906.2.
            
            Transcript Variant: This variant (1) represents the shortest
            transcript. Variants 1-3 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.265222.1,
                                           SRR1803613.251353.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2156266 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360793.8/ ENSP00000354028.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..251
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     Protein         1..251
                     /product="transmembrane ascorbate-dependent reductase
                     CYB561 isoform 1"
                     /note="ferric-chelate reductase 2; cytochrome b-561;
                     cytochrome b561 family, member A1; transmembrane
                     ascorbate-dependent reductase CYB561"
                     /calculated_mol_wt=27428
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000250|UniProtKB:P10897; propagated from
                     UniProtKB/Swiss-Prot (P49447.2)"
     Site            17..37
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P49447.2)"
     Region          44..186
                     /region_name="Cyt_b561_CYB561"
                     /note="Vertebrate cytochrome b(561), CYB561 gene product;
                     cd08763"
                     /db_xref="CDD:176493"
     Site            52..72
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P49447.2)"
     Site            order(53,87,121,160)
                     /site_type="other"
                     /note="putative heme binding sites [chemical binding]"
                     /db_xref="CDD:176493"
     Site            86..106
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P49447.2)"
     Site            125..145
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P49447.2)"
     Site            159..179
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P49447.2)"
     Site            199..219
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P49447.2)"
     Site            247
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q60720; propagated from
                     UniProtKB/Swiss-Prot (P49447.2)"
     CDS             1..251
                     /gene="CYB561"
                     /gene_synonym="CYB561A1; FRRS2; ORTHYP2"
                     /coded_by="NM_001915.4:76..831"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS11636.1"
                     /db_xref="GeneID:1534"
                     /db_xref="HGNC:HGNC:2571"
                     /db_xref="MIM:600019"
ORIGIN      
        1 meggaaaatp talpyyvafs qllgltlvam tgawlglyrg giawesdlqf nahplcmvig
       61 liflqgnall vyrvfrneak rttkvlhgll hifalvialv glvavfdyhr kkgyadlysl
      121 hswcgilvfv lyfvqwlvgf sfflfpgasf slrsryrpqh iffgatifll svgtallglk
      181 eallfnlggk ysafepegvl anvlglllac fggavlyilt radwkrpsqa eeqalsmdfk
      241 tltegdspgs q
//
LOCUS       NP_003965                412 aa            linear   PRI 25-DEC-2022
DEFINITION  docking protein 2 isoform a [Homo sapiens].
ACCESSION   NP_003965
VERSION     NP_003965.2
DBSOURCE    REFSEQ: accession NM_003974.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 412)
  AUTHORS   Sun P, Li R, Meng Y, Xi S, Wang Q, Yang X, Peng X and Cai J.
  TITLE     Introduction to DOK2 and its potential role in cancer
  JOURNAL   Physiol Res 70 (5), 671-685 (2021)
   PUBMED   34505522
  REMARK    GeneRIF: Introduction to DOK2 and its potential role in cancer.
            Review article
REFERENCE   2  (residues 1 to 412)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 412)
  AUTHORS   He PF, Xu ZJ, Zhou JD, Li XX, Zhang W, Wu DH, Zhang ZH, Lian XY,
            Yao XY, Deng ZQ, Lin J and Qian J.
  TITLE     Methylation-associated DOK1 and DOK2 down-regulation: Potential
            biomarkers for predicting adverse prognosis in acute myeloid
            leukemia
  JOURNAL   J Cell Physiol 233 (9), 6604-6614 (2018)
   PUBMED   29150948
  REMARK    GeneRIF: Decreased DOK1/2 expressions associated with their
            promoter hypermethylations predict adverse prognosis in AML.
REFERENCE   4  (residues 1 to 412)
  AUTHORS   Deshpande RP, Chandra Sekhar YBVK, Panigrahi M and Babu PP.
  TITLE     Region-Specific Dok2 Overexpression Associates with Poor Prognosis
            in Human Astrocytoma
  JOURNAL   Mol Neurobiol 55 (1), 402-408 (2018)
   PUBMED   27975172
  REMARK    GeneRIF: DOK2 overexpression in different brain regions is
            associated with poor prognosis in astrocytoma clinical cases.
REFERENCE   5  (residues 1 to 412)
  AUTHORS   Lahmidi S, Strunk U, Smiley JR, Pearson A and Duplay P.
  TITLE     Herpes simplex virus 1 infection of T cells causes
            VP11/12-dependent phosphorylation and degradation of the cellular
            protein Dok-2
  JOURNAL   Virology 511, 66-73 (2017)
   PUBMED   28841444
  REMARK    GeneRIF: In this report, the authors demonstrated that the cellular
            adaptor proteins Dok-2 and Dok-1 are tyrosine phosphorylated upon
            herpes simplex virus 1 infection. In addition, herpes simplex virus
            1 induced the selective degradation of Dok-2. Finally, Dok-2
            interacts with herpes simplex virus 1 VP11/12, and that herpes
            simplex virus 1-induced tyrosine phosphorylation and degradation of
            Dok-2 require VP11/12.
REFERENCE   6  (residues 1 to 412)
  AUTHORS   Nemorin JG and Duplay P.
  TITLE     Evidence that Llck-mediated phosphorylation of p56dok and p62dok
            may play a role in CD2 signaling
  JOURNAL   J Biol Chem 275 (19), 14590-14597 (2000)
   PUBMED   10799545
REFERENCE   7  (residues 1 to 412)
  AUTHORS   Dunant NM, Wisniewski D, Strife A, Clarkson B and Resh MD.
  TITLE     The phosphatidylinositol polyphosphate 5-phosphatase SHIP1
            associates with the dok1 phosphoprotein in bcr-Abl transformed
            cells
  JOURNAL   Cell Signal 12 (5), 317-326 (2000)
   PUBMED   10822173
REFERENCE   8  (residues 1 to 412)
  AUTHORS   Jones N and Dumont DJ.
  TITLE     Recruitment of Dok-R to the EGF receptor through its PTB domain is
            required for attenuation of Erk MAP kinase activation
  JOURNAL   Curr Biol 9 (18), 1057-1060 (1999)
   PUBMED   10508618
REFERENCE   9  (residues 1 to 412)
  AUTHORS   Jones N and Dumont DJ.
  TITLE     The Tek/Tie2 receptor signals through a novel Dok-related docking
            protein, Dok-R
  JOURNAL   Oncogene 17 (9), 1097-1108 (1998)
   PUBMED   9764820
REFERENCE   10 (residues 1 to 412)
  AUTHORS   Di Cristofano A, Carpino N, Dunant N, Friedland G, Kobayashi R,
            Strife A, Wisniewski D, Clarkson B, Pandolfi PP and Resh MD.
  TITLE     Molecular cloning and characterization of p56dok-2 defines a new
            family of RasGAP-binding proteins
  JOURNAL   J Biol Chem 273 (9), 4827-4830 (1998)
   PUBMED   9478921
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC295259.1, BC032623.1 and AK226110.1.
            On Jan 30, 2004 this sequence version replaced NP_003965.1.
            
            Summary: The protein encoded by this gene is constitutively
            tyrosine phosphorylated in hematopoietic progenitors isolated from
            chronic myelogenous leukemia (CML) patients in the chronic phase.
            It may be a critical substrate for p210(bcr/abl), a chimeric
            protein whose presence is associated with CML. This encoded protein
            binds p120 (RasGAP) from CML cells. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC032623.1, SRR1163658.407181.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000276420.9/ ENSP00000276420.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..412
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     Protein         1..412
                     /product="docking protein 2 isoform a"
                     /note="p56(dok-2); downstream of tyrosine kinase 2;
                     docking protein 2, 56kD; docking protein 2, 56kDa"
                     /calculated_mol_wt=45248
     Region          7..114
                     /region_name="PH_DOK1,2,3"
                     /note="Pleckstrin homology (PH) domain of Downstream of
                     tyrosine kinase 1, 2, and 3; cd14676"
                     /db_xref="CDD:270195"
     Region          147..246
                     /region_name="PTB_DOK1_DOK2_DOK3"
                     /note="Downstream of tyrosine kinase 1, 2, and 3 proteins
                     phosphotyrosine-binding domain (PTBi); cd01203"
                     /db_xref="CDD:269914"
     Site            order(157,163)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269914"
     Site            order(196..204,210,214..215,235,242,245)
                     /site_type="other"
                     /note="phosphopeptide binding site [polypeptide binding]"
                     /db_xref="CDD:269914"
     Region          246..296
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60496.2)"
     Site            271
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:O70469; propagated from
                     UniProtKB/Swiss-Prot (O60496.2)"
     Site            299
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:15592455, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60496.2)"
     Site            345
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:O70469; propagated from
                     UniProtKB/Swiss-Prot (O60496.2)"
     Region          359..412
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60496.2)"
     CDS             1..412
                     /gene="DOK2"
                     /gene_synonym="p56DOK; p56dok-2"
                     /coded_by="NM_003974.4:90..1328"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS6016.1"
                     /db_xref="GeneID:9046"
                     /db_xref="HGNC:HGNC:2991"
                     /db_xref="MIM:604997"
ORIGIN      
        1 mgdgavkqgf lylqqqqtfg kkwrrfgasl yggsdcalar lelqegpekp rrceaarkvi
       61 rlsdclrvae aggeassprd tsaffletke rlyllaapaa ergdwvqaic llafpgqrke
      121 lsgpegkqsr pcmeenelys savtvgphke favtmrptea serchlrgsy tlragesale
      181 lwggpepgtq lydwpyrflr rfgrdkvtfs feagrrcvsg egnfefetrq gneiflalee
      241 aisaqknaap atpqpqpati paslprpdsp ysrphdslpp pspttpvpap rprgqegeya
      301 vpfdavarsl gknfrgilav ppqlladply dsieetlppr pdhiydepeg vaalslydsp
      361 qeprgeawrr qatadrdpag lqhvqpagqd fsasgwqpgt eydnvvlkkg pk
//
LOCUS       NP_001308754             748 aa            linear   PRI 26-DEC-2022
DEFINITION  fidgetin isoform 2 [Homo sapiens].
ACCESSION   NP_001308754 XP_005246719
VERSION     NP_001308754.1
DBSOURCE    REFSEQ: accession NM_001321825.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 748)
  AUTHORS   Zhou B, Wang J, Gao J, Xie J and Chen Y.
  TITLE     Fidgetin as a potential prognostic biomarker for hepatocellular
            carcinoma
  JOURNAL   Int J Med Sci 17 (17), 2888-2894 (2020)
   PUBMED   33162817
  REMARK    GeneRIF: Fidgetin as a potential prognostic biomarker for
            hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 748)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 748)
  AUTHORS   Wang D, Chu M, Wang F, Zhou A, Ruan M and Chen Y.
  TITLE     A Genetic Variant in FIGN Gene Reduces the Risk of Congenital Heart
            Disease in Han Chinese Populations
  JOURNAL   Pediatr Cardiol 38 (6), 1169-1174 (2017)
   PUBMED   28534241
  REMARK    GeneRIF: FIGN might play an important role in decreased congenital
            heart defect risk by upregulating plasma folate concentration
            during embryo heart development
REFERENCE   4  (residues 1 to 748)
  AUTHORS   Wang D, Wang F, Shi KH, Tao H, Li Y, Zhao R, Lu H, Duan W, Qiao B,
            Zhao SM, Wang H and Zhao JY.
  TITLE     Lower Circulating Folate Induced by a Fidgetin Intronic Variant Is
            Associated With Reduced Congenital Heart Disease Susceptibility
  JOURNAL   Circulation 135 (18), 1733-1748 (2017)
   PUBMED   28302752
  REMARK    GeneRIF: FIGN +94762G>C polymorphism reduced the risk of congenital
            heart defects by activating the transcription of an alternative
            FIGN isoform, inhibiting proteasome activity and allowing the
            accumulation of RFC1 and DHFR, promoting folate transmembrane
            transport and utilization.
REFERENCE   5  (residues 1 to 748)
  AUTHORS   Simino J, Shi G, Bis JC, Chasman DI, Ehret GB, Gu X, Guo X, Hwang
            SJ, Sijbrands E, Smith AV, Verwoert GC, Bragg-Gresham JL, Cadby G,
            Chen P, Cheng CY, Corre T, de Boer RA, Goel A, Johnson T, Khor CC,
            Lluis-Ganella C, Luan J, Lyytikainen LP, Nolte IM, Sim X, Sober S,
            van der Most PJ, Verweij N, Zhao JH, Amin N, Boerwinkle E, Bouchard
            C, Dehghan A, Eiriksdottir G, Elosua R, Franco OH, Gieger C, Harris
            TB, Hercberg S, Hofman A, James AL, Johnson AD, Kahonen M, Khaw KT,
            Kutalik Z, Larson MG, Launer LJ, Li G, Liu J, Liu K, Morrison AC,
            Navis G, Ong RT, Papanicolau GJ, Penninx BW, Psaty BM, Raffel LJ,
            Raitakari OT, Rice K, Rivadeneira F, Rose LM, Sanna S, Scott RA,
            Siscovick DS, Stolk RP, Uitterlinden AG, Vaidya D, van der Klauw
            MM, Vasan RS, Vithana EN, Volker U, Volzke H, Watkins H, Young TL,
            Aung T, Bochud M, Farrall M, Hartman CA, Laan M, Lakatta EG,
            Lehtimaki T, Loos RJ, Lucas G, Meneton P, Palmer LJ, Rettig R,
            Snieder H, Tai ES, Teo YY, van der Harst P, Wareham NJ, Wijmenga C,
            Wong TY, Fornage M, Gudnason V, Levy D, Palmas W, Ridker PM, Rotter
            JI, van Duijn CM, Witteman JC, Chakravarti A and Rao DC.
  CONSRTM   LifeLines Cohort Study
  TITLE     Gene-age interactions in blood pressure regulation: a large-scale
            investigation with the CHARGE, Global BPgen, and ICBP Consortia
  JOURNAL   Am J Hum Genet 95 (1), 24-38 (2014)
   PUBMED   24954895
REFERENCE   6  (residues 1 to 748)
  AUTHORS   Hazra A, Kraft P, Lazarus R, Chen C, Chanock SJ, Jacques P, Selhub
            J and Hunter DJ.
  TITLE     Genome-wide significant predictors of metabolites in the one-carbon
            metabolism pathway
  JOURNAL   Hum Mol Genet 18 (23), 4677-4687 (2009)
   PUBMED   19744961
REFERENCE   7  (residues 1 to 748)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 748)
  AUTHORS   Alkelai A, Greenbaum L, Rigbi A, Kanyas K and Lerer B.
  TITLE     Genome-wide association study of antipsychotic-induced parkinsonism
            severity among schizophrenia patients
  JOURNAL   Psychopharmacology (Berl) 206 (3), 491-499 (2009)
   PUBMED   19680635
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   9  (residues 1 to 748)
  AUTHORS   Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G,
            Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK,
            Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek
            WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT,
            McManus R, van Heel DA and Wijmenga C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (residues 1 to 748)
  AUTHORS   Cox GA, Mahaffey CL, Nystuen A, Letts VA and Frankel WN.
  TITLE     The mouse fidgetin gene defines a new role for AAA family proteins
            in mammalian development
  JOURNAL   Nat Genet 26 (2), 198-202 (2000)
   PUBMED   11017077
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092684.2 and AC093727.3.
            On Mar 31, 2016 this sequence version replaced XP_005246719.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.165059.1,
                                           SRR7346977.2878945.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..748
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.3"
     Protein         1..748
                     /product="fidgetin isoform 2"
                     /calculated_mol_wt=80848
     Region          476..639
                     /region_name="RecA-like_fidgetin"
                     /note="ATPase domain of fidgetin; cd19523"
                     /db_xref="CDD:410931"
     Site            order(477..480,517..523)
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:410931"
     Region          664..>695
                     /region_name="AAA_lid_3"
                     /note="AAA+ lid domain; pfam17862"
                     /db_xref="CDD:436099"
     Region          <712..745
                     /region_name="Vps4_C"
                     /note="Vps4 C terminal oligomerization domain; pfam09336"
                     /db_xref="CDD:430536"
     CDS             1..748
                     /gene="FIGN"
                     /coded_by="NM_001321825.2:180..2426"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:55137"
                     /db_xref="HGNC:HGNC:13285"
                     /db_xref="MIM:605295"
ORIGIN      
        1 mqwtpehaqw peqhfditst trspahkvea yrghlqrtyq yawanddisa ltasnllkky
       61 aekysgileg pvdrpvlsny sdtpsglvng rknesepwqp slnseavypm ncvpdvitas
      121 kagvssalpp advsasigss pgvasnltep syssstcgsh tvpslhaglp sqeyapgyng
      181 sylhstyssq papalpsphp splhssgllq pppppppppa lvpgyngtsn lssysypsas
      241 yppqtavgsg yspggapppp saylpsgipa ptplppttvp gytyqghglt piapsaltns
      301 sasslkrkaf ymagqgdmds sygnysygqq rstqspmyrm pdnsisntnr gngfdrsaet
      361 sslafkptkq lmsseqqrkf ssqssraltp psystaknsl gsrssesfgk ytspvmsehg
      421 dehrqllshp mqgpglraat ssnhsvdeql kntdthlidl vtneiitqgp pvdwndiagl
      481 dlvkavikee vlwpvlrsda fsgltalprs illfgprgtg ktllgrcias qlgatffkia
      541 gsglvakwlg eaekiihasf lvarcrqpsv ifvsdidmll ssqvneehsp vsrmrteflm
      601 qldtvltsae dqivvicats kpeeideslr ryfmkrllip lpdstarhqi ivqllsqhny
      661 clndkefall vqrtegfsgl dvahlcqeav vgplhampat dlsaimpsql rpvtyqdfen
      721 afckiqpsis qkeldmyvew nkmfgcsq
//
LOCUS       NP_001352855             843 aa            linear   PRI 27-DEC-2022
DEFINITION  neuroligin-1 isoform 2 [Homo sapiens].
ACCESSION   NP_001352855 XP_016861378
VERSION     NP_001352855.1
DBSOURCE    REFSEQ: accession NM_001365926.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 843)
  AUTHORS   Pergolizzi M, Bizzozero L, Maione F, Maldi E, Isella C, Macagno M,
            Mariella E, Bardelli A, Medico E, Marchio C, Serini G, Di
            Nicolantonio F, Bussolino F and Arese M.
  TITLE     The neuronal protein Neuroligin 1 promotes colorectal cancer
            progression by modulating the APC/beta-catenin pathway
  JOURNAL   J Exp Clin Cancer Res 41 (1), 266 (2022)
   PUBMED   36056393
  REMARK    GeneRIF: The neuronal protein Neuroligin 1 promotes colorectal
            cancer progression by modulating the APC/beta-catenin pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 843)
  AUTHORS   Choi GE, Chae CW, Park MR, Yoon JH, Jung YH, Lee HJ and Han HJ.
  TITLE     Prenatal glucocorticoid exposure selectively impairs neuroligin
            1-dependent neurogenesis by suppressing astrocytic FGF2-neuronal
            FGFR1 axis
  JOURNAL   Cell Mol Life Sci 79 (6), 294 (2022)
   PUBMED   35562616
  REMARK    GeneRIF: Prenatal glucocorticoid exposure selectively impairs
            neuroligin 1-dependent neurogenesis by suppressing astrocytic
            FGF2-neuronal FGFR1 axis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 843)
  AUTHORS   Yu Q, Wang X, Yang Y, Chi P, Huang J, Qiu S, Zheng X and Chen X.
  TITLE     Upregulated NLGN1 predicts poor survival in colorectal cancer
  JOURNAL   BMC Cancer 21 (1), 884 (2021)
   PUBMED   34340665
  REMARK    GeneRIF: Upregulated NLGN1 predicts poor survival in colorectal
            cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 843)
  AUTHORS   Camporesi E, Lashley T, Gobom J, Lantero-Rodriguez J, Hansson O,
            Zetterberg H, Blennow K and Becker B.
  TITLE     Neuroligin-1 in brain and CSF of neurodegenerative disorders:
            investigation for synaptic biomarkers
  JOURNAL   Acta Neuropathol Commun 9 (1), 19 (2021)
   PUBMED   33522967
  REMARK    GeneRIF: Neuroligin-1 in brain and CSF of neurodegenerative
            disorders: investigation for synaptic biomarkers.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 843)
  AUTHORS   Paskus JD, Tian C, Fingleton E, Shen C, Chen X, Li Y, Myers SA,
            Badger JD 2nd, Bemben MA, Herring BE and Roche KW.
  TITLE     Synaptic Kalirin-7 and Trio Interactomes Reveal a GEF
            Protein-Dependent Neuroligin-1 Mechanism of Action
  JOURNAL   Cell Rep 29 (10), 2944-2952 (2019)
   PUBMED   31801062
  REMARK    GeneRIF: Synaptic Kalirin-7 and Trio Interactomes Reveal a GEF
            Protein-Dependent Neuroligin-1 Mechanism of Action.
REFERENCE   6  (residues 1 to 843)
  AUTHORS   Cantallops I and Cline HT.
  TITLE     Synapse formation: if it looks like a duck and quacks like a duck
            ...
  JOURNAL   Curr Biol 10 (17), R620-R623 (2000)
   PUBMED   10996085
  REMARK    Review article
REFERENCE   7  (residues 1 to 843)
  AUTHORS   Scheiffele P, Fan J, Choih J, Fetter R and Serafini T.
  TITLE     Neuroligin expressed in nonneuronal cells triggers presynaptic
            development in contacting axons
  JOURNAL   Cell 101 (6), 657-669 (2000)
   PUBMED   10892652
REFERENCE   8  (residues 1 to 843)
  AUTHORS   Irie M, Hata Y, Takeuchi M, Ichtchenko K, Toyoda A, Hirao K, Takai
            Y, Rosahl TW and Sudhof TC.
  TITLE     Binding of neuroligins to PSD-95
  JOURNAL   Science 277 (5331), 1511-1515 (1997)
   PUBMED   9278515
REFERENCE   9  (residues 1 to 843)
  AUTHORS   Ichtchenko K, Nguyen T and Sudhof TC.
  TITLE     Structures, alternative splicing, and neurexin binding of multiple
            neuroligins
  JOURNAL   J Biol Chem 271 (5), 2676-2682 (1996)
   PUBMED   8576240
REFERENCE   10 (residues 1 to 843)
  AUTHORS   Ichtchenko K, Hata Y, Nguyen T, Ullrich B, Missler M, Moomaw C and
            Sudhof TC.
  TITLE     Neuroligin 1: a splice site-specific ligand for beta-neurexins
  JOURNAL   Cell 81 (3), 435-443 (1995)
   PUBMED   7736595
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018456.18, AC092967.5,
            AC092923.8 and AC008120.17.
            On Sep 20, 2018 this sequence version replaced XP_016861378.1.
            
            Summary: This gene encodes a member of a family of neuronal cell
            surface proteins. Members of this family may act as splice
            site-specific ligands for beta-neurexins and may be involved in the
            formation and remodeling of central nervous system synapses.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.44071.1,
                                           SRR14372080.3870749.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267759, SAMN03465402
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..843
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.31"
     Protein         1..843
                     /product="neuroligin-1 isoform 2"
                     /calculated_mol_wt=94137
     Region          52..626
                     /region_name="COesterase"
                     /note="Carboxylesterase family; pfam00135"
                     /db_xref="CDD:395084"
     Site            order(201..203,280..282,285,433,437..438,480,526,529)
                     /site_type="other"
                     /note="substrate binding pocket [chemical binding]"
                     /db_xref="CDD:238191"
     Site            order(281,411,525)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:238191"
     CDS             1..843
                     /gene="NLGN1"
                     /gene_synonym="NL1"
                     /coded_by="NM_001365926.2:1065..3596"
                     /note="isoform 2 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS93427.1"
                     /db_xref="GeneID:22871"
                     /db_xref="HGNC:HGNC:14291"
                     /db_xref="MIM:600568"
ORIGIN      
        1 malprctwpn yvwravmacl vhrglgaplt lcmlgcllqa ghvlsqkldd vdplvatnfg
       61 kirgikkeln neilgpviqf lgvpyaappt gerrfqppep pspwsdirna tqfapvcpqn
      121 iidgrlpevm lpvwftnnld vvssyvqdqs edclylniyv ptedvkrisk ecarkpgkki
      181 crkgdirdsg gpkpvmvyih ggsymegtgn lydgsvlasy gnvivitvny rlgvlgflst
      241 gdqaakgnyg lldliqalrw tsenigffgg dplritvfgs gaggscvnll tlshysegnr
      301 wsnstkglfq raiaqsgtal sswavsfqpa kyarmlatkv gcnvsdtvel veclqkkpyk
      361 elvdqdiqpa ryhiafgpvi dgdvipddpq ilmeqgefln ydimlgvnqg eglkfveniv
      421 dsddgisasd fdfavsnfvd nlygypegkd vlretikfmy tdwadrhnpe trrktllalf
      481 tdhqwvapav atadlhsnfg sptyfyafyh hcqtdqvpaw adaahgdevp yvlgipmigp
      541 telfpcnfsk ndvmlsavvm tywtnfaktg dpnqpvpqdt kfihtkpnrf eevawtrysq
      601 kdqlylhigl kprvkehyra nkvnlwlelv phlhnlndis qytstttkvp stditfrptr
      661 knsvpvtsaf ptakqddpkq qpspfsvdqr dystelsvti avgasllfln ilafaalyyk
      721 kdkrrhdvhr rcspqrtttn dlthaqeeei mslqmkhtdl dhecesihph evvlrtacpp
      781 dytlamrrsp ddvplmtpnt itmipntipg iqplhtfntf tggqnntlph phphphshst
      841 trv
//
LOCUS       NP_001353610            2127 aa            linear   PRI 27-DEC-2022
DEFINITION  dedicator of cytokinesis protein 9 isoform 11 [Homo sapiens].
ACCESSION   NP_001353610 XP_016875998
VERSION     NP_001353610.1
DBSOURCE    REFSEQ: accession NM_001366681.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2127)
  AUTHORS   Eijsbouts C, Zheng T, Kennedy NA, Bonfiglio F, Anderson CA,
            Moutsianas L, Holliday J, Shi J, Shringarpure S, Voda AI, Farrugia
            G, Franke A, Hubenthal M, Abecasis G, Zawistowski M, Skogholt AH,
            Ness-Jensen E, Hveem K, Esko T, Teder-Laving M, Zhernakova A,
            Camilleri M, Boeckxstaens G, Whorwell PJ, Spiller R, McVean G,
            D'Amato M, Jostins L and Parkes M.
  CONSRTM   23andMe Research Team; Bellygenes Initiative
  TITLE     Genome-wide analysis of 53,400 people with irritable bowel syndrome
            highlights shared genetic pathways with mood and anxiety disorders
  JOURNAL   Nat Genet 53 (11), 1543-1552 (2021)
   PUBMED   34741163
  REMARK    GeneRIF: Genome-wide analysis of 53,400 people with irritable bowel
            syndrome highlights shared genetic pathways with mood and anxiety
            disorders.
REFERENCE   2  (residues 1 to 2127)
  AUTHORS   Karolak JA, Rydzanicz M, Ginter-Matuszewska B, Pitarque JA,
            Molinari A, Bejjani BA and Gajecka M.
  TITLE     Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus
            Family
  JOURNAL   Invest Ophthalmol Vis Sci 56 (13), 7687-7690 (2015)
   PUBMED   26641546
  REMARK    GeneRIF: c.2262A>C substitution in DOCK9 leads to a splicing
            aberration. However, because the mutation effect was observed in
            vitro, a definitive relationship between DOCK9 and KTCN phenotype
            could not be established.
REFERENCE   3  (residues 1 to 2127)
  AUTHORS   Blandin G, Marchand S, Charton K, Daniele N, Gicquel E, Boucheteil
            JB, Bentaib A, Barrault L, Stockholm D, Bartoli M and Richard I.
  TITLE     A human skeletal muscle interactome centered on proteins involved
            in muscular dystrophies: LGMD interactome
  JOURNAL   Skelet Muscle 3 (1), 3 (2013)
   PUBMED   23414517
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 2127)
  AUTHORS   Rittinger K.
  TITLE     Snapshots form a big picture of guanine nucleotide exchange
  JOURNAL   Sci Signal 2 (91), pe63 (2009)
   PUBMED   19809089
  REMARK    GeneRIF: Studies indicate that that many of the mechanistic
            principles of the exchange process are conserved in the
            DOCK9-catalyzed reaction.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 2127)
  AUTHORS   Yang J, Zhang Z, Roe SM, Marshall CJ and Barford D.
  TITLE     Activation of Rho GTPases by DOCK exchange factors is mediated by a
            nucleotide sensor
  JOURNAL   Science 325 (5946), 1398-1402 (2009)
   PUBMED   19745154
  REMARK    GeneRIF: through structural analysis of DOCK9-Cdc42 complexes, we
            identify a nucleotide sensor within the alpha10 helix of the DHR2
            domain that contributes to release of guanine diphosphate (GDP) and
            then to discharge of the activated GTP-bound Cdc42
REFERENCE   6  (residues 1 to 2127)
  AUTHORS   Meller N, Westbrook MJ, Shannon JD, Guda C and Schwartz MA.
  TITLE     Function of the N-terminus of zizimin1: autoinhibition and membrane
            targeting
  JOURNAL   Biochem J 409 (2), 525-533 (2008)
   PUBMED   17935486
  REMARK    GeneRIF: novel functions for the N-terminal region of zizimin1.
REFERENCE   7  (residues 1 to 2127)
  AUTHORS   Detera-Wadleigh SD, Liu CY, Maheshwari M, Cardona I, Corona W,
            Akula N, Steele CJ, Badner JA, Kundu M, Kassem L, Potash JB, Gibbs
            R, Gershon ES and McMahon FJ.
  CONSRTM   NIMH Genetics Initiative for Bipolar Disorder Consortium
  TITLE     Sequence variation in DOCK9 and heterogeneity in bipolar disorder
  JOURNAL   Psychiatr Genet 17 (5), 274-286 (2007)
   PUBMED   17728666
  REMARK    GeneRIF: DOCK9 contributes to both risk and increased illness
            severity in bipolar disorder.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 2127)
  AUTHORS   Cote JF and Vuori K.
  TITLE     Identification of an evolutionarily conserved superfamily of
            DOCK180-related proteins with guanine nucleotide exchange activity
  JOURNAL   J Cell Sci 115 (Pt 24), 4901-4913 (2002)
   PUBMED   12432077
REFERENCE   9  (residues 1 to 2127)
  AUTHORS   Meller N, Irani-Tehrani M, Kiosses WB, Del Pozo MA and Schwartz MA.
  TITLE     Zizimin1, a novel Cdc42 activator, reveals a new GEF domain for Rho
            proteins
  JOURNAL   Nat Cell Biol 4 (9), 639-647 (2002)
   PUBMED   12172552
  REMARK    GeneRIF: Sequence comparison combined with mutational analysis
            identified a new domain, which we named CZH2, that mediates direct
            interaction with Cdc42
REFERENCE   10 (residues 1 to 2127)
  AUTHORS   Christian SL, McDonough J, Liu Cy CY, Shaikh S, Vlamakis V, Badner
            JA, Chakravarti A and Gershon ES.
  TITLE     An evaluation of the assembly of an approximately 15-Mb region on
            human chromosome 13q32-q33 linked to bipolar disorder and
            schizophrenia
  JOURNAL   Genomics 79 (5), 635-656 (2002)
   PUBMED   11991713
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL139084.9 and AL161420.10.
            On Oct 16, 2018 this sequence version replaced XP_016875998.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.54675.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2127
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.3"
     Protein         1..2127
                     /product="dedicator of cytokinesis protein 9 isoform 11"
                     /note="dedicator of cytokinesis protein 9; cdc42 guanine
                     nucleotide exchange factor zizimin-1"
                     /calculated_mol_wt=242723
     Region          45..155
                     /region_name="DUF3398"
                     /note="Domain of unknown function (DUF3398); pfam11878"
                     /db_xref="CDD:432155"
     Region          169..292
                     /region_name="PH_DOCK-D"
                     /note="Dedicator of cytokinesis-D subfamily Pleckstrin
                     homology (PH) domain; cd13267"
                     /db_xref="CDD:270087"
     Region          638..827
                     /region_name="C2_Dock-D"
                     /note="C2 domains found in Dedicator Of CytoKinesis (Dock)
                     class C proteins; cd08697"
                     /db_xref="CDD:176079"
     Region          1634..2083
                     /region_name="DHR2_DOCK9"
                     /note="Dock Homology Region 2, a GEF domain, of Class D
                     Dedicator of Cytokinesis 9; cd11698"
                     /db_xref="CDD:212571"
     Site            order(1761,1771,1773..1774,1776..1777,1780..1781,
                     1783..1784,1787..1788)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:212571"
     Site            order(1795..1798,1800,1841..1842,1844..1847,1849..1850,
                     1869..1871,1888,1890,1919,1921,1928..1929,1935,1974..1975,
                     1978,1992,1994,1998,2001..2003,2006..2009,2011..2012,2015,
                     2043,2061..2062,2064..2065,2068)
                     /site_type="other"
                     /note="Cdc42 binding site [polypeptide binding]"
                     /db_xref="CDD:212571"
     Site            2006..2011
                     /site_type="other"
                     /note="nucleotide sensor"
                     /db_xref="CDD:212571"
     CDS             1..2127
                     /gene="DOCK9"
                     /gene_synonym="ZIZ1; ZIZIMIN1"
                     /coded_by="NM_001366681.2:156..6539"
                     /note="isoform 11 is encoded by transcript variant 11"
                     /db_xref="GeneID:23348"
                     /db_xref="HGNC:HGNC:14132"
                     /db_xref="MIM:607325"
ORIGIN      
        1 mqadkcrtss rsvkkelvie splqykdaaq geveaespgp vpakpkliep ldyenvivqk
       61 ktqilndclr emllfpyddf qtailrrqgr yicstvpaka eeeaqslfvt eciktynsdw
      121 hlvnykyedy sgefrqlpnk vvkldklpvh vyevdeevdk dedaaslgsq kggitkhgwl
      181 ykgnmnsais vtmrsfkrrf fhliqlgdgs ynlnfykdek iskepkgsif ldscmgvvqn
      241 nkvrrfafel kmqdkssyll aadsevemee witilnkilq lnfeaamqek rngdshedde
      301 qsklegsgsg ldsylpelak sareaeiklk sesrvklfyl dpdaqkldfs saepevksfe
      361 ekfgkrilvk cndlsfnlqc cvaeneegpt tnvepffvtl slfdikynrk isadfhvdln
      421 hfsvrqmlat tspalmngsg qspsvlkgil heaamqypkq gifsvtcphp diflvariek
      481 vlqgsithca epymkssdss kvaqkvlkna kqacqrlgqy rmpfawaart lfkdasgnld
      541 knarfsaiyr qdsnklsndd mlklladfrk pekmaklpvi lgnlditidn vssdfpnyvn
      601 ssyiptkqfe tcsktpitfe veefvpcipk htqpytiytn hlyvypkylk ydsqksfaka
      661 rniaiciefk dsdeedsqpl kciygrpggp vftrsafaav lhhhqnpefy deikielptq
      721 lhekhhlllt ffhvscdnss kgstkkrdvv etqvgyswlp llkdgrvvts eqhipvsanl
      781 psgylgyqel gmgrhygpei kwvdggkpll kisthlvstv ytqdqhlhnf fqycqktesg
      841 aqalgnelvk ylkslhameg hvmiaflpti lnqlfrvltr atqeevavnv trviihvvaq
      901 cheegleshl rsyvkyayka epyvaseykt vheeltksmt tilkpsadfl tsnkllkysw
      961 fffdvliksm aqhlienskv kllrnqrfpa syhhavetvv nmlmphitqk frdnpeaskn
     1021 anhslavfik rcftfmdrgf vfkqinnyis cfapgdpktl feykfeflrv vcnhehyipl
     1081 nlpmpfgkgr iqryqdlqld ysltdefcrn hflvglllre vgtalqefre vrliaisvlk
     1141 nllikhsfdd ryasrshqar iatlylplfg llienvqrin vrdvspfpvn agmtvkdesl
     1201 alpavnplvt pqkgstldns lhkdllgais giaspyttst pninsvrnad srgslistds
     1261 gnslpernse ksnsldkhqq sstlgnsvvr cdkldqseik sllmcflyil ksmsddalft
     1321 ywnkastsel mdfftisevc lhqfqymgkr yiarnqeglg pivhdrksqt lpvsrnrtgm
     1381 mharlqqlgs ldnsltfnhs yghsdadvlh qslleaniat evcltaldtl slftlafknq
     1441 lladhghnpl mkkvfdvylc flqkhqseta lknvftalrs liykfpstfy egradmcaal
     1501 cyeilkccns klssirteas qllyflmrnn fdytgkksfv rthlqviisv sqliadvvgi
     1561 ggtrfqqsls iinncansdr likhtsfssd vkdltkrirt vlmataqmke hendpemlvd
     1621 lqyslaksya stpelrktwl dsmarihvkn gdlseaamcy vhvtalvaey ltrkeavqwe
     1681 ppllphshsa clrrsrggvf rqgctafrvi tpnideeasm medvgmqdvh fnedvlmell
     1741 eqcadglwka eryeliadiy kliipiyekr rdferlahly dtlhrayskv tevmhsgrrl
     1801 lgtyfrvaff gqqyqftdse tdvegffede dgkeyiykep kltplseisq rllklysdkf
     1861 gsenvkmiqd sgkvnpkdld skyayiqvth vipffdekel qerktefers hnirrfmfem
     1921 pftqtgkrqg gveeqckrrt iltaihcfpy vkkripvmyq hhtdlnpiev aidemskkva
     1981 elrqlcssae vdmiklqlkl qgsvsvqvna gplayarafl ddtntkrypd nkvkllkevf
     2041 rqfveacgqa lavnerlike dqleyqeemk anyremakel seimheqicp leektsvlpn
     2101 slhifnaisg tptstmvhgm tssssvv
//
LOCUS       NP_006371                585 aa            linear   PRI 27-DEC-2022
DEFINITION  amyloid protein-binding protein 2 isoform 1 [Homo sapiens].
ACCESSION   NP_006371
VERSION     NP_006371.2
DBSOURCE    REFSEQ: accession NM_006380.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 585)
  AUTHORS   Sheng J, Liu L, Dong T and Wu X.
  TITLE     Circ_SETD3 regulates gefitinib sensitivity and tumor progression by
            miR-873-5p-dependent regulation of APPBP2 in non-small cell lung
            cancer
  JOURNAL   J Chemother 34 (6), 401-413 (2022)
   PUBMED   34861803
  REMARK    GeneRIF: Circ_SETD3 regulates gefitinib sensitivity and tumor
            progression by miR-873-5p-dependent regulation of APPBP2 in
            non-small cell lung cancer.
REFERENCE   2  (residues 1 to 585)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 585)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 585)
  AUTHORS   Lin HC, Ho SC, Chen YY, Khoo KH, Hsu PH and Yen HC.
  TITLE     SELENOPROTEINS. CRL2 aids elimination of truncated selenoproteins
            produced by failed UGA/Sec decoding
  JOURNAL   Science 349 (6243), 91-95 (2015)
   PUBMED   26138980
REFERENCE   5  (residues 1 to 585)
  AUTHORS   So J, Pasculescu A, Dai AY, Williton K, James A, Nguyen V, Creixell
            P, Schoof EM, Sinclair J, Barrios-Rodiles M, Gu J, Krizus A,
            Williams R, Olhovsky M, Dennis JW, Wrana JL, Linding R, Jorgensen
            C, Pawson T and Colwill K.
  TITLE     Integrative analysis of kinase networks in TRAIL-induced apoptosis
            provides a source of potential targets for combination therapy
  JOURNAL   Sci Signal 8 (371), rs3 (2015)
   PUBMED   25852190
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 585)
  AUTHORS   Benboudjema L, Mulvey M, Gao Y, Pimplikar SW and Mohr I.
  TITLE     Association of the herpes simplex virus type 1 Us11 gene product
            with the cellular kinesin light-chain-related protein PAT1 results
            in the redistribution of both polypeptides
  JOURNAL   J Virol 77 (17), 9192-9203 (2003)
   PUBMED   12915535
  REMARK    GeneRIF: Association of the herpes simplex virus type 1 Us11 gene
            product with the cellular kinesin light-chain-related protein PAT1
            results in the redistribution of both polypeptides.
REFERENCE   7  (residues 1 to 585)
  AUTHORS   Gao Y and Pimplikar SW.
  TITLE     The gamma -secretase-cleaved C-terminal fragment of amyloid
            precursor protein mediates signaling to the nucleus
  JOURNAL   Proc Natl Acad Sci U S A 98 (26), 14979-14984 (2001)
   PUBMED   11742091
REFERENCE   8  (residues 1 to 585)
  AUTHORS   Monni O, Barlund M, Mousses S, Kononen J, Sauter G, Heiskanen M,
            Paavola P, Avela K, Chen Y, Bittner ML and Kallioniemi A.
  TITLE     Comprehensive copy number and gene expression profiling of the
            17q23 amplicon in human breast cancer
  JOURNAL   Proc Natl Acad Sci U S A 98 (10), 5711-5716 (2001)
   PUBMED   11331760
REFERENCE   9  (residues 1 to 585)
  AUTHORS   Barlund M, Monni O, Kononen J, Cornelison R, Torhorst J, Sauter G,
            Kallioniemi OLLI-P and Kallioniemi A.
  TITLE     Multiple genes at 17q23 undergo amplification and overexpression in
            breast cancer
  JOURNAL   Cancer Res 60 (19), 5340-5344 (2000)
   PUBMED   11034067
REFERENCE   10 (residues 1 to 585)
  AUTHORS   Zheng P, Eastman J, Vande Pol S and Pimplikar SW.
  TITLE     PAT1, a microtubule-interacting protein, recognizes the basolateral
            sorting signal of amyloid precursor protein
  JOURNAL   Proc Natl Acad Sci U S A 95 (25), 14745-14750 (1998)
   PUBMED   9843960
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011921.14 and AC037475.9.
            On Jan 10, 2002 this sequence version replaced NP_006371.1.
            
            Summary: The protein encoded by this gene interacts with
            microtubules and is functionally associated with beta-amyloid
            precursor protein transport and/or processing. The beta-amyloid
            precursor protein is a cell surface protein with signal-transducing
            properties, and it is thought to play a role in the pathogenesis of
            Alzheimer's disease. The encoded protein may be involved in
            regulating cell death. This gene has been found to be highly
            expressed in breast cancer. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Sep 2013].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.2383361.1, D86981.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000083182.8/ ENSP00000083182.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..585
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.2"
     Protein         1..585
                     /product="amyloid protein-binding protein 2 isoform 1"
                     /note="protein interacting with APP tail 1; amyloid
                     protein-binding protein 2; amyloid beta precursor protein
                     (cytoplasmic tail) binding protein 2"
                     /calculated_mol_wt=66722
     Region          50..83
                     /region_name="TPR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92624.2)"
     Region          120..153
                     /region_name="TPR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92624.2)"
     Region          206..239
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92624.2)"
     Region          288..321
                     /region_name="TPR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92624.2)"
     Region          333..367
                     /region_name="TPR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92624.2)"
     Region          427..504
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     Region          429..462
                     /region_name="TPR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92624.2)"
     Region          471..505
                     /region_name="TPR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92624.2)"
     Region          514..547
                     /region_name="TPR 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92624.2)"
     CDS             1..585
                     /gene="APPBP2"
                     /gene_synonym="APP-BP2; HS.84084; PAT1"
                     /coded_by="NM_006380.5:312..2069"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS32699.1"
                     /db_xref="GeneID:10513"
                     /db_xref="HGNC:HGNC:622"
                     /db_xref="MIM:605324"
ORIGIN      
        1 maavelewip etlyntaisa vvdnyirsrr dirslpeniq fdvyyklyqq grlcqlgsef
       61 celevfakvl raldkrhllh hcfqalmdhg vkvasvlays fsrrcsyiae sdaavkekai
      121 qvgfvlggfl sdagwysdae kvflsclqlc tlhdemlhwf raveccvrll hvrngnckyh
      181 lgeetfklaq tymdklskhg qqankaalyg elcallfaks hydeaykwci eamkeitagl
      241 pvkvvvdvlr qaskacvvkr efkkaeqlik havylardhf gskhpkysdt lldygfylln
      301 vdnicqsvai yqaaldirqs vfggknihva tahedlayss yvhqyssgkf dnalfhaera
      361 igiithilpe dhlllasskr vkalileeia idchnketeq rllqeahdlh lsslqlakka
      421 fgefnvqtak hygnlgrlyq smrkfkeaee mhikaiqike qllgqedyev alsvghlasl
      481 ynydmnqyen aeklylrsia igkklfgegy sgleydyrgl iklynsigny ekvfeyhnvl
      541 snwnrlrdrq ysvtdaledv stspqsteev vqsflisqnv egpsc
//
LOCUS       NP_001358390             608 aa            linear   PRI 27-DEC-2022
DEFINITION  polypeptide N-acetylgalactosaminyltransferase 11 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001358390
VERSION     NP_001358390.1
DBSOURCE    REFSEQ: accession NM_001371461.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 608)
  AUTHORS   Gorski M, Tin A, Garnaas M, McMahon GM, Chu AY, Tayo BO, Pattaro C,
            Teumer A, Chasman DI, Chalmers J, Hamet P, Tremblay J, Woodward M,
            Aspelund T, Eiriksdottir G, Gudnason V, Harris TB, Launer LJ, Smith
            AV, Mitchell BD, O'Connell JR, Shuldiner AR, Coresh J, Li M,
            Freudenberger P, Hofer E, Schmidt H, Schmidt R, Holliday EG,
            Mitchell P, Wang JJ, de Boer IH, Li G, Siscovick DS, Kutalik Z,
            Corre T, Vollenweider P, Waeber G, Gupta J, Kanetsky PA, Hwang SJ,
            Olden M, Yang Q, de Andrade M, Atkinson EJ, Kardia SL, Turner ST,
            Stafford JM, Ding J, Liu Y, Barlassina C, Cusi D, Salvi E, Staessen
            JA, Ridker PM, Grallert H, Meisinger C, Muller-Nurasyid M, Kramer
            BK, Kramer H, Rosas SE, Nolte IM, Penninx BW, Snieder H, Fabiola
            Del Greco M, Franke A, Nothlings U, Lieb W, Bakker SJ, Gansevoort
            RT, van der Harst P, Dehghan A, Franco OH, Hofman A, Rivadeneira F,
            Sedaghat S, Uitterlinden AG, Coassin S, Haun M, Kollerits B,
            Kronenberg F, Paulweber B, Aumann N, Endlich K, Pietzner M, Volker
            U, Rettig R, Chouraki V, Helmer C, Lambert JC, Metzger M, Stengel
            B, Lehtimaki T, Lyytikainen LP, Raitakari O, Johnson A, Parsa A,
            Bochud M, Heid IM, Goessling W, Kottgen A, Kao WH, Fox CS and Boger
            CA.
  TITLE     Genome-wide association study of kidney function decline in
            individuals of European descent
  JOURNAL   Kidney Int 87 (5), 1017-1029 (2015)
   PUBMED   25493955
  REMARK    GeneRIF: possible role in the deterioration of kidney function
            [meta-analysis]
REFERENCE   2  (residues 1 to 608)
  AUTHORS   Libisch MG, Casas M, Chiribao M, Moreno P, Cayota A, Osinaga E,
            Oppezzo P and Robello C.
  TITLE     GALNT11 as a new molecular marker in chronic lymphocytic leukemia
  JOURNAL   Gene 533 (1), 270-279 (2014)
   PUBMED   24076351
  REMARK    GeneRIF: evidence suggests that CLL patient samples harbor aberrant
            O-glycosylation highlighted by Tn antigen expression and that the
            over-expression of GALNT11 constitutes a new molecular marker for
            CLL
REFERENCE   3  (residues 1 to 608)
  AUTHORS   Boskovski MT, Yuan S, Pedersen NB, Goth CK, Makova S, Clausen H,
            Brueckner M and Khokha MK.
  TITLE     The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia
            type and laterality
  JOURNAL   Nature 504 (7480), 456-459 (2013)
   PUBMED   24226769
REFERENCE   4  (residues 1 to 608)
  AUTHORS   Yuasa I, Umetsu K, Matsusue A, Nishimukai H, Harihara S, Fukumori
            Y, Saitou N, Jin F, Chattopadhyay PK, Henke L and Henke J.
  TITLE     A Japanese-specific allele in the GALNT11 gene
  JOURNAL   Leg Med (Tokyo) 12 (4), 208-211 (2010)
   PUBMED   20547088
  REMARK    GeneRIF: Single nucleiotide polymorphism in the GALNT11 genes were
            investigated to assess allele frequencies in different populations.
            This SNP would be useful marker for forensic individualization, in
            particular, as ancestry-informative markers.
            GeneRIF: Observational study of genotype prevalence. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 608)
  AUTHORS   Bennett EP, Chen YW, Schwientek T, Mandel U, Schjoldager Kt, Cohen
            SM and Clausen H.
  TITLE     Rescue of Drosophila Melanogaster l(2)35Aa lethality is only
            mediated by polypeptide GalNAc-transferase pgant35A, but not by the
            evolutionary conserved human ortholog GalNAc-transferase-T11
  JOURNAL   Glycoconj J 27 (4), 435-444 (2010)
   PUBMED   20422447
  REMARK    GeneRIF: GALNT11, the human ortholog to Drosophila melanogaster
            pgant35A, was shown not to support rescue of the l(2)35Aa lethality
            during Drosophila embryogenesis.
REFERENCE   6  (residues 1 to 608)
  AUTHORS   Schwientek T, Bennett EP, Flores C, Thacker J, Hollmann M, Reis CA,
            Behrens J, Mandel U, Keck B, Schafer MA, Haselmann K, Zubarev R,
            Roepstorff P, Burchell JM, Taylor-Papadimitriou J, Hollingsworth MA
            and Clausen H.
  TITLE     Functional conservation of subfamilies of putative
            UDP-N-acetylgalactosamine:polypeptide
            N-acetylgalactosaminyltransferases in Drosophila, Caenorhabditis
            elegans, and mammals. One subfamily composed of l(2)35Aa is
            essential in Drosophila
  JOURNAL   J Biol Chem 277 (25), 22623-22638 (2002)
   PUBMED   11925450
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006017.2.
            
            Transcript Variant: This variant (6), as well as variants 1, 3-5,
            7, and 8, encodes isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.4572809.1,
                                           SRR14038195.2258364.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2144335,
                                           SAMEA2145313 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..608
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     Protein         1..608
                     /product="polypeptide N-acetylgalactosaminyltransferase 11
                     isoform 1"
                     /EC_number="2.4.1.41"
                     /note="pp-GaNTase 11; polypeptide GalNAc transferase 11;
                     protein-UDP acetylgalactosaminyltransferase 11;
                     UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase
                     11; UDP-N-acetyl-alpha-D-galactosamine:polypeptide
                     N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"
                     /calculated_mol_wt=68788
     Site            7..29
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCW6.2)"
     Site            95
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q921L8; propagated from
                     UniProtKB/Swiss-Prot (Q8NCW6.2)"
     Region          150..261
                     /region_name="Catalytic subdomain A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCW6.2)"
     Region          154..452
                     /region_name="pp-GalNAc-T"
                     /note="pp-GalNAc-T initiates the formation of mucin-type
                     O-linked glycans; cd02510"
                     /db_xref="CDD:133004"
     Site            order(158..160,162,191,222,225,229,245..247,327..328,
                     350..351,353,378,381,386)
                     /site_type="active"
                     /note="ligand binding site [active]"
                     /db_xref="CDD:133004"
     Site            order(245,247,378)
                     /site_type="active"
                     /note="Mn binding site [active]"
                     /db_xref="CDD:133004"
     Region          319..381
                     /region_name="Catalytic subdomain B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCW6.2)"
     Site            428
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NCW6.2)"
     Region          483..604
                     /region_name="Ricin_B_lectin"
                     /note="Ricin-type beta-trefoil lectin domain; pfam00652"
                     /db_xref="CDD:395527"
     CDS             1..608
                     /gene="GALNT11"
                     /gene_synonym="GALNAC-T11; GALNACT11"
                     /coded_by="NM_001371461.1:299..2125"
                     /note="isoform 1 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS5930.1"
                     /db_xref="GeneID:63917"
                     /db_xref="HGNC:HGNC:19875"
                     /db_xref="MIM:615130"
ORIGIN      
        1 mgsvtvryfc ygclftsatw tvllfvyfnf sevtqplknv pvkgsgphgp spkkfyprft
       61 rgpsrvlepq fkankiddvi dsrvedpeeg hlkfsselgm ifnerdqelr dlgyqkhafn
      121 mlisdrlgyh rdvpdtrnaa ckekfyppdl paasvvicfy neafsallrt vhsvidrtpa
      181 hllheiilvd ddsdfddlkg eldeyvqkyl pgkikvirnt kreglirgrm igaahatgev
      241 lvfldshcev nvmwlqplla airedrhtvv cpvidiisad tlayssspvv rggfnwglhf
      301 kwdlvplsel graegatapi ksptmagglf amnrqyfhel gqydsgmdiw ggenleisfr
      361 iwmcggklfi ipcsrvghif rkrrpygspe gqdtmthnsl rlahvwldey keqyfslrpd
      421 lktksygnis ervelrkklg cksfkwyldn vypemqisgs hakpqqpifv nrgpkrpkvl
      481 qrgrlyhlqt nkclvaqgrp sqkgglvvlk acdysdpnqi wiyneehelv lnsllcldms
      541 etrssdpprl mkchgsggsq qwtfgknnrl yqvsvgqclr avdplgqkgs vamaicdgss
      601 sqqwhleg
//
LOCUS       NP_001358240             146 aa            linear   PRI 27-DEC-2022
DEFINITION  cytochrome c oxidase assembly factor 1 homolog isoform a [Homo
            sapiens].
ACCESSION   NP_001358240
VERSION     NP_001358240.1
DBSOURCE    REFSEQ: accession NM_001371311.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 146)
  AUTHORS   Kim SK, Nguyen C, Horton BH, Avins AL and Abrams GD.
  TITLE     Association of COA1 with Patellar Tendonitis: A Genome-wide
            Association Analysis
  JOURNAL   Med Sci Sports Exerc 53 (11), 2419-2424 (2021)
   PUBMED   34081057
  REMARK    GeneRIF: Association of COA1 with Patellar Tendonitis: A
            Genome-wide Association Analysis.
REFERENCE   2  (residues 1 to 146)
  AUTHORS   Formosa LE, Muellner-Wong L, Reljic B, Sharpe AJ, Jackson TD,
            Beilharz TH, Stojanovski D, Lazarou M, Stroud DA and Ryan MT.
  TITLE     Dissecting the Roles of Mitochondrial Complex I Intermediate
            Assembly Complex Factors in the Biogenesis of Complex I
  JOURNAL   Cell Rep 31 (3), 107541 (2020)
   PUBMED   32320651
REFERENCE   3  (residues 1 to 146)
  AUTHORS   Wang C, Richter-Dennerlein R, Pacheu-Grau D, Liu F, Zhu Y,
            Dennerlein S and Rehling P.
  TITLE     MITRAC15/COA1 promotes mitochondrial translation in a ND2
            ribosome-nascent chain complex
  JOURNAL   EMBO Rep 21 (1), e48833 (2020)
   PUBMED   31721420
  REMARK    GeneRIF: MITRAC15/COA1 promotes mitochondrial translation in a ND2
            ribosome-nascent chain complex.
REFERENCE   4  (residues 1 to 146)
  AUTHORS   Fellenberg J, Sahr H, Kunz P, Zhao Z, Liu L, Tichy D and Herr I.
  TITLE     Restoration of miR-127-3p and miR-376a-3p counteracts the
            neoplastic phenotype of giant cell tumor of bone derived stromal
            cells by targeting COA1, GLE1 and PDIA6
  JOURNAL   Cancer Lett 371 (1), 134-141 (2016)
   PUBMED   26655997
  REMARK    GeneRIF: Restoration of miR-127-3p and miR-376a-3p counteracts the
            neoplastic phenotype of giant cell tumor of bone derived stromal
            cells by targeting COA1, GLE1 and PDIA6.
REFERENCE   5  (residues 1 to 146)
  AUTHORS   Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi
            I, Sasarman F, Weraarpachai W, Shoubridge EA, Warscheid B and
            Rehling P.
  TITLE     MITRAC links mitochondrial protein translocation to
            respiratory-chain assembly and translational regulation
  JOURNAL   Cell 151 (7), 1528-1541 (2012)
   PUBMED   23260140
REFERENCE   6  (residues 1 to 146)
  AUTHORS   Szklarczyk R, Wanschers BF, Cuypers TD, Esseling JJ, Riemersma M,
            van den Brand MA, Gloerich J, Lasonder E, van den Heuvel LP,
            Nijtmans LG and Huynen MA.
  TITLE     Iterative orthology prediction uncovers new mitochondrial proteins
            and identifies C12orf62 as the human ortholog of COX14, a protein
            involved in the assembly of cytochrome c oxidase
  JOURNAL   Genome Biol 13 (2), R12 (2012)
   PUBMED   22356826
  REMARK    GeneRIF: Human ortholog of fungal COA1 (Cytochrome Oxidase Assembly
            1)
            GeneRIF: Encodes a mitochondrial protein
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005189.2.
            
            Transcript Variant: This variant (31), as well as variants 1, 3-6,
            16-19, 27-30, and 32-36, encodes isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2431751.1,
                                           SRR5189655.47282.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..146
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p13"
     Protein         1..146
                     /product="cytochrome c oxidase assembly factor 1 homolog
                     isoform a"
                     /note="cytochrome c oxidase assembly protein 1 homolog;
                     mitochondrial translation regulation assembly intermediate
                     of cytochrome c oxidase protein of 15 kDa; cytochrome c
                     oxidase assembly factor 1 homolog"
                     /calculated_mol_wt=16563
     Site            15..37
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZY4.1)"
     Region          18..134
                     /region_name="Coa1"
                     /note="Cytochrome oxidase complex assembly protein 1;
                     pfam08695"
                     /db_xref="CDD:430157"
     CDS             1..146
                     /gene="COA1"
                     /gene_synonym="C7orf44; MITRAC15"
                     /coded_by="NM_001371311.1:356..796"
                     /note="isoform a is encoded by transcript variant 31"
                     /db_xref="CCDS:CCDS5471.1"
                     /db_xref="GeneID:55744"
                     /db_xref="HGNC:HGNC:21868"
                     /db_xref="MIM:614769"
ORIGIN      
        1 mmwqkyagsr rsmplgaril fhgvfyaggf aivyyliqkf hsralyykla veqlqshpea
       61 qealgpplni hylklidren fvdivdaklk ipvsgskseg llyvhssrgg pfqrwhldev
      121 flelkdgqqi pvfklsgeng devkke
//
LOCUS       NP_001372041             881 aa            linear   PRI 29-DEC-2022
DEFINITION  polyhomeotic-like protein 2 isoform d [Homo sapiens].
ACCESSION   NP_001372041
VERSION     NP_001372041.1
DBSOURCE    REFSEQ: accession NM_001385112.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 881)
  AUTHORS   Freire-Beneitez V, Pomella N, Millner TO, Dumas AA, Niklison-Chirou
            MV, Maniati E, Wang J, Rajeeve V, Cutillas P and Marino S.
  TITLE     Elucidation of the BMI1 interactome identifies novel regulatory
            roles in glioblastoma
  JOURNAL   NAR Cancer 3 (1), zcab009 (2021)
   PUBMED   34316702
  REMARK    Erratum:[NAR Cancer. 2021 May 25;3(2):zcab020. PMID: 34319293]
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 881)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 881)
  AUTHORS   Gray F, Cho HJ, Shukla S, He S, Harris A, Boytsov B, Jaremko L,
            Jaremko M, Demeler B, Lawlor ER, Grembecka J and Cierpicki T.
  TITLE     BMI1 regulates PRC1 architecture and activity through homo- and
            hetero-oligomerization
  JOURNAL   Nat Commun 7, 13343 (2016)
   PUBMED   27827373
  REMARK    GeneRIF: Interaction of BMI1 with polyhomeotic protein PHC2 and
            homo-oligomerization via ubiquitin-like domain are necessary for
            H2A ubiquitination activity of PRC1 and for clonogenic potential of
            U2OS cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 881)
  AUTHORS   Hauri S, Comoglio F, Seimiya M, Gerstung M, Glatter T, Hansen K,
            Aebersold R, Paro R, Gstaiger M and Beisel C.
  TITLE     A High-Density Map for Navigating the Human Polycomb Complexome
  JOURNAL   Cell Rep 17 (2), 583-595 (2016)
   PUBMED   27705803
REFERENCE   5  (residues 1 to 881)
  AUTHORS   Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB,
            Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G,
            Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J,
            Graslund S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ
            and Greenblatt J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
REFERENCE   6  (residues 1 to 881)
  AUTHORS   Tonkin E, Hagan DM, Li W and Strachan T.
  TITLE     Identification and characterisation of novel mammalian homologues
            of Drosophila polyhomeoticpermits new insights into relationships
            between members of the polyhomeotic family
  JOURNAL   Hum Genet 111 (4-5), 435-442 (2002)
   PUBMED   12384788
REFERENCE   7  (residues 1 to 881)
  AUTHORS   Levine SS, Weiss A, Erdjument-Bromage H, Shao Z, Tempst P and
            Kingston RE.
  TITLE     The core of the polycomb repressive complex is compositionally and
            functionally conserved in flies and humans
  JOURNAL   Mol Cell Biol 22 (17), 6070-6078 (2002)
   PUBMED   12167701
REFERENCE   8  (residues 1 to 881)
  AUTHORS   Gunther M, Laithier M and Brison O.
  TITLE     A set of proteins interacting with transcription factor Sp1
            identified in a two-hybrid screening
  JOURNAL   Mol Cell Biochem 210 (1-2), 131-142 (2000)
   PUBMED   10976766
REFERENCE   9  (residues 1 to 881)
  AUTHORS   Satijn DP, Gunster MJ, van der Vlag J, Hamer KM, Schul W, Alkema
            MJ, Saurin AJ, Freemont PS, van Driel R and Otte AP.
  TITLE     RING1 is associated with the polycomb group protein complex and
            acts as a transcriptional repressor
  JOURNAL   Mol Cell Biol 17 (7), 4105-4113 (1997)
   PUBMED   9199346
REFERENCE   10 (residues 1 to 881)
  AUTHORS   Gunster MJ, Satijn DP, Hamer KM, den Blaauwen JL, de Bruijn D,
            Alkema MJ, van Lohuizen M, van Driel R and Otte AP.
  TITLE     Identification and characterization of interactions between the
            vertebrate polycomb-group protein BMI1 and human homologs of
            polyhomeotic
  JOURNAL   Mol Cell Biol 17 (4), 2326-2335 (1997)
   PUBMED   9121482
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138837.12 and AL513327.34.
            
            Summary: In Drosophila melanogaster, the 'Polycomb' group (PcG) of
            genes are part of a cellular memory system that is responsible for
            the stable inheritance of gene activity. PcG proteins form a large
            multimeric, chromatin-associated protein complex. The protein
            encoded by this gene has homology to the Drosophila PcG protein
            'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and
            colocalize with BMI1 in interphase nuclei of human cells. The
            specific function in human cells has not yet been determined. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2667261.1,
                                           SRR14372080.3883055.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..881
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.1"
     Protein         1..881
                     /product="polyhomeotic-like protein 2 isoform d"
                     /note="early development regulator 2 (homolog of
                     polyhomeotic 2); polyhomeotic-like protein 2; early
                     development regulatory protein 2; polyhomeotic-like 2"
                     /calculated_mol_wt=92853
     Region          <116..571
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          693..812
                     /region_name="PHC2_SAM_assoc"
                     /note="Unstructured region on Polyhomeotic-like protein 1
                     and 2; pfam16616"
                     /db_xref="CDD:435466"
     Region          812..880
                     /region_name="SAM_Ph1,2,3"
                     /note="SAM domain of Ph (polyhomeotic) proteins of
                     Polycomb group; cd09577"
                     /db_xref="CDD:188976"
     Site            order(830..831,865..866,869..870,873)
                     /site_type="other"
                     /note="oligomer interface EH [polypeptide binding]"
                     /db_xref="CDD:188976"
     Site            order(841..845,847..848,851..852,856,861)
                     /site_type="other"
                     /note="oligomer interface ML [polypeptide binding]"
                     /db_xref="CDD:188976"
     CDS             1..881
                     /gene="PHC2"
                     /gene_synonym="EDR2; HPH2; PH2"
                     /coded_by="NM_001385112.1:175..2820"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS90912.1"
                     /db_xref="GeneID:1912"
                     /db_xref="HGNC:HGNC:3183"
                     /db_xref="MIM:602979"
ORIGIN      
        1 menelpvpht sssacatsst sgassssgcn nsssggsgrp tgpqisvysg ipdrqtvqvi
       61 qqalhrqpst aaqylqqmya aqqqhlmlqt aalqqqhlss aqlqslaavq qaslvsnrqg
      121 stsgsnvsaq apaqsssinl aaspaaaqll nraqsvnsaa asgiaqqavl lgntsspalt
      181 asqaqmylra qmaqpgnlvq varslggtvp lspqliftpt atvatvqpel gtgsparppt
      241 paqvqnltlr tqqtpaaaas gptptqpvlp slalkptpgg sqplptpaqs rntaqaspag
      301 akpgiadsvm ephkkgdgns svpgsmegra glsrtvpava ahpliapaya qlqphqllpq
      361 psskhlqpqf viqqqpqpqq qqpppqqsrp vlqaephpql asvspsvalq psseahampl
      421 gpvtpalplq cptanlhkpg gsqqchpptp dtgpqnghpe gvphtpqrrf qhtsavilql
      481 qpaspvpqqc vpddwkevap geksvpetrs gpsphqqaiv tampgglpvp tspniqpspa
      541 hetgqgivha ltdlsspgmt sgngnsassi agtapqngen kppqaivkpq ilthviegfv
      601 iqegaepfpv grssllvgnl kkkyaqgflp eklpqqdhtt ttdsemeepy lqeskeegap
      661 lklkcelcgr vdfaykfkrs krfcsmacak rynvgctkrv glfhsdrskl qkagaathnr
      721 rraskaslpp ltkdtkkqpt gtvplsvtaa lqlthsqeds srcsdnssye eplspisass
      781 stsrrrqgqr dlelpdmhmr dlvgmghhfl pseptkwnve dvyefirslp gcqeiaeefr
      841 aqeidgqall llkedhlmsa mniklgpalk iyarismlkd s
//
LOCUS       NP_001339085            2424 aa            linear   PRI 29-DEC-2022
DEFINITION  chromodomain-helicase-DNA-binding protein 9 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001339085
VERSION     NP_001339085.1
DBSOURCE    REFSEQ: accession NM_001352156.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2424)
  AUTHORS   Alendar A, Lambooij JP, Bhaskaran R, Lancini C, Song JY, van Vugt
            H, Snoek M and Berns A.
  TITLE     Gene expression regulation by the Chromodomain helicase DNA-binding
            protein 9 (CHD9) chromatin remodeler is dispensable for murine
            development
  JOURNAL   PLoS One 15 (5), e0233394 (2020)
   PUBMED   32453735
  REMARK    GeneRIF: Gene expression regulation by the Chromodomain helicase
            DNA-binding protein 9 (CHD9) chromatin remodeler is dispensable for
            murine development.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 2424)
  AUTHORS   Sabater-Lleal M, Huang J, Chasman D, Naitza S, Dehghan A, Johnson
            AD, Teumer A, Reiner AP, Folkersen L, Basu S, Rudnicka AR, Trompet
            S, Malarstig A, Baumert J, Bis JC, Guo X, Hottenga JJ, Shin SY,
            Lopez LM, Lahti J, Tanaka T, Yanek LR, Oudot-Mellakh T, Wilson JF,
            Navarro P, Huffman JE, Zemunik T, Redline S, Mehra R, Pulanic D,
            Rudan I, Wright AF, Kolcic I, Polasek O, Wild SH, Campbell H, Curb
            JD, Wallace R, Liu S, Eaton CB, Becker DM, Becker LC, Bandinelli S,
            Raikkonen K, Widen E, Palotie A, Fornage M, Green D, Gross M,
            Davies G, Harris SE, Liewald DC, Starr JM, Williams FM, Grant PJ,
            Spector TD, Strawbridge RJ, Silveira A, Sennblad B, Rivadeneira F,
            Uitterlinden AG, Franco OH, Hofman A, van Dongen J, Willemsen G,
            Boomsma DI, Yao J, Swords Jenny N, Haritunians T, McKnight B,
            Lumley T, Taylor KD, Rotter JI, Psaty BM, Peters A, Gieger C, Illig
            T, Grotevendt A, Homuth G, Volzke H, Kocher T, Goel A, Franzosi MG,
            Seedorf U, Clarke R, Steri M, Tarasov KV, Sanna S, Schlessinger D,
            Stott DJ, Sattar N, Buckley BM, Rumley A, Lowe GD, McArdle WL, Chen
            MH, Tofler GH, Song J, Boerwinkle E, Folsom AR, Rose LM,
            Franco-Cereceda A, Teichert M, Ikram MA, Mosley TH, Bevan S,
            Dichgans M, Rothwell PM, Sudlow CL, Hopewell JC, Chambers JC,
            Saleheen D, Kooner JS, Danesh J, Nelson CP, Erdmann J, Reilly MP,
            Kathiresan S, Schunkert H, Morange PE, Ferrucci L, Eriksson JG,
            Jacobs D, Deary IJ, Soranzo N, Witteman JC, de Geus EJ, Tracy RP,
            Hayward C, Koenig W, Cucca F, Jukema JW, Eriksson P, Seshadri S,
            Markus HS, Watkins H, Samani NJ, Wallaschofski H, Smith NL,
            Tregouet D, Ridker PM, Tang W, Strachan DP, Hamsten A and O'Donnell
            CJ.
  CONSRTM   VTE Consortium; STROKE Consortium; Wellcome Trust Case Control
            Consortium 2 (WTCCC2); C4D Consortium; CARDIoGRAM Consortium
  TITLE     Multiethnic meta-analysis of genome-wide association studies in
            >100 000 subjects identifies 23 fibrinogen-associated Loci but no
            strong evidence of a causal association between circulating
            fibrinogen and cardiovascular disease
  JOURNAL   Circulation 128 (12), 1310-1324 (2013)
   PUBMED   23969696
REFERENCE   3  (residues 1 to 2424)
  AUTHORS   Marom R, Shur I, Hager GL and Benayahu D.
  TITLE     Expression and regulation of CReMM, a chromodomain
            helicase-DNA-binding (CHD), in marrow stroma derived
            osteoprogenitors
  JOURNAL   J Cell Physiol 207 (3), 628-635 (2006)
   PUBMED   16523501
  REMARK    GeneRIF: CReMM is a chromodomain helicase-DNA-binding protein
            expressed by osteoprogenitors
REFERENCE   4  (residues 1 to 2424)
  AUTHORS   Surapureddi S, Viswakarma N, Yu S, Guo D, Rao MS and Reddy JK.
  TITLE     PRIC320, a transcription coactivator, isolated from peroxisome
            proliferator-binding protein complex
  JOURNAL   Biochem Biophys Res Commun 343 (2), 535-543 (2006)
   PUBMED   16554032
REFERENCE   5  (residues 1 to 2424)
  AUTHORS   Shur I, Solomon R and Benayahu D.
  TITLE     Dynamic interactions of chromatin-related mesenchymal modulator, a
            chromodomain helicase-DNA-binding protein, with promoters in
            osteoprogenitors
  JOURNAL   Stem Cells 24 (5), 1288-1293 (2006)
   PUBMED   16705189
  REMARK    GeneRIF: Chromatin immunoprecipitation assay was applied to follow
            the dynamics of CReMM binding to A/T-rich regions on promoters of
            genes that play a role in osteoblast maturation.
REFERENCE   6  (residues 1 to 2424)
  AUTHORS   Shur I and Benayahu D.
  TITLE     Characterization and functional analysis of CReMM, a novel
            chromodomain helicase DNA-binding protein
  JOURNAL   J Mol Biol 352 (3), 646-655 (2005)
   PUBMED   16095617
  REMARK    GeneRIF: The CHD9 (CReMM) protein is extensively phosphorylated,
            has DNA-dependent ATPase activity, and binds to A/T-rich DNA. It is
            also expressed in mesenchymal progenitors.
REFERENCE   7  (residues 1 to 2424)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007906.8 and AC079416.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.188437.1,
                                           SRR14038197.1296549.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2424
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.2"
     Protein         1..2424
                     /product="chromodomain-helicase-DNA-binding protein 9
                     isoform 3"
                     /EC_number="3.6.4.12"
                     /note="PPAR{gamma}-interacting cofactor 320 kDa;
                     chromatin-related mesenchymal modulator; proteinx0008;
                     chromatin remodeling factor CHROM1; ciprofibrate bound
                     protein p240; kismet homolog 2; ATP-dependent helicase
                     CHD9; PPAR-alpha-interacting complex protein 320 kDa;
                     peroxisomal proliferator-activated receptor A-interacting
                     complex 320 kDa protein"
                     /calculated_mol_wt=273125
     Region          212..276
                     /region_name="CD1_tandem_CHD5-9_like"
                     /note="repeat 1 of the paired tandem chromodomains of
                     chromodomain helicase DNA-binding protein 5-9, and similar
                     proteins; cd18668"
                     /db_xref="CDD:349315"
     Site            order(216,246,248..249,253)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:349315"
     Region          296..354
                     /region_name="CD2_tandem_CHD5-9_like"
                     /note="repeat 2 of the paired tandem chromodomains of
                     chromodomain helicase DNA-binding protein 5-9, and similar
                     proteins; cd18663"
                     /db_xref="CDD:349310"
     Site            order(321,338)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:349310"
     Region          337..>1006
                     /region_name="PLN03142"
                     /note="Probable chromatin-remodeling complex ATPase chain;
                     Provisional"
                     /db_xref="CDD:215601"
     Region          386..607
                     /region_name="DEXHc_CHD9"
                     /note="DEAH-box helicase domain of the chromodomain
                     helicase DNA binding protein 9; cd18061"
                     /db_xref="CDD:350819"
     Site            order(413..419,452,523..524)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350819"
     Region          2009..2058
                     /region_name="BRK"
                     /note="domain in transcription and CHROMO domain
                     helicases; smart00592"
                     /db_xref="CDD:197800"
     Region          2083..2127
                     /region_name="BRK"
                     /note="domain in transcription and CHROMO domain
                     helicases; smart00592"
                     /db_xref="CDD:197800"
     CDS             1..2424
                     /gene="CHD9"
                     /gene_synonym="AD013; CHD-9; CReMM; KISH2; PRIC320"
                     /coded_by="NM_001352156.3:354..7628"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS92161.1"
                     /db_xref="GeneID:80205"
                     /db_xref="HGNC:HGNC:25701"
                     /db_xref="MIM:616936"
ORIGIN      
        1 mssvkrprgr ppsskksdgs gtytklqntq vrvmsekkqr kkveseskqe kanriiseai
       61 akakergern iprvmspenf ptasvegkee kkgrrmkskp kdkdskktkt csklkektki
      121 gkliitlgkk qkrknessde isdaeqmpqh tlkdqdsqkr rsnrqikrkk yaediegkqs
      181 eeevkgsmki kknsaplpge qplqlfvenp seedaaivdk ilssrtvkke ispgvmidte
      241 effvkyknys ylhcewatee qllkdkriqq kikrfklrqa qrahffadme eepfnpdyve
      301 vdrvlevsfc edkdtgepvi yylvkwcslp yedstwelke dvdlakieef eqlqasrpdt
      361 rrldrppsni wkkidqsrdy kngnqlreyq leglnwllfn wynrrncila demglgktiq
      421 sitflyeill tgirgpflii aplstianwe refrtwtdin vvvyhgslis rqmiqqyemy
      481 frdsqgriir gayrfqaiit tfemilggcg elnaiewrcv iideahrlkn kncklleglk
      541 lmnlehkvll tgtplqntve elfsllhfle plrfpsestf mqefgdlkte eqvqklqail
      601 kpmmlrrlke dvekklapke etiieveltn iqkkyyrail eknfsflskg agqtnvpnlv
      661 ntmmelrkcc nhpylikgae ekilgefrdt ynpaasdfhl qamiqsagkl vlidkllpkm
      721 kagghkvlif sqmvrcldil edylihkryl yeridgrvrg nlrqaaidrf skpdsdrfvf
      781 llctragglg inltaadtci ifdsdwnpqn dlqaqarchr igqnkavkvy rlvtrnsyer
      841 emfdraslkl gldkavlqsm sgresnvggi qqlskkeied llrrgaygai meeedegskf
      901 ceedidqill rrtktities egrgstfaka sfvasgnrtd islddpnfwq kwakkaeidi
      961 eaisgrnslv idtprirkqt rpfsatkdel aelseaeseg dekpklrrpc drsngygrte
     1021 cfrveknllv ygwgrwreil shgrfkrqln ehdveiicra llayclvhyr gdekikgfiw
     1081 dlitptedgq trelqnhlgl sapvprgrkg kkvktqtssf diqkaewlrk ynpeqllqde
     1141 gykkhikhhc nkvllrvrml yylkqevign ecqkvfdgvd asdidvwvpe pdhsevpaew
     1201 wdfdadksll igvfkhgyek yntiradpal cflervgkpd ekavaaeqra ndymdgdved
     1261 peykpapaif kddieddvss pgdlviadgd gqlmegdkvy wptqsalttr lrrlitayqr
     1321 tnknrqiqqi qptfsvptsv mqpiyeeatl npkmaakier qqrwtrreea dfyrvvstfg
     1381 vvfdpdrgqf dwtkframar lhkktddsle kylyafmsmc rrvcrlpske elvdpnifiq
     1441 piteerasrt lyriellrkv reqalrhpql ferlklchpn pdlpvwwecg phdrdlliga
     1501 akhgvsrtdy hilrdpelsf maaqrnysqs kmahsrtstp llqqyqvals aspltslprl
     1561 ldakgiilee mkvksenlke epqsseeesm ssvetrtlik sepvspkngv lpqatgdqks
     1621 ggkcetdrrm vaartepltp npaskkprvh krgsesssds dsdsersscs srssssssss
     1681 scshsrsgss sssssscssa ssssssstss ssssssssse esdsdeeeaq kraestthmk
     1741 aydeesvasl sttqdetqds fqmnngtpes ayilqggyml aasywpkdrv minrldsicq
     1801 tvlkgkwpsa rrsydantva sfyttkllds pgaateysdp svptppgagv keehdqstqm
     1861 skvkkhvrek eftvkikdeg glkltfqkqg laqkrpfdge dgalgqqqyl trlrelqsas
     1921 etslvnfpks ipvsgtsiqp tlgangvild nqpivkkrrg rrknvegvdi fffnrnkppn
     1981 hvslgltssq istginpals ytqpqgipdt espvpvinlk dgtrlagdda pkrkdlekwl
     2041 kehpgyvedl gafiprmqlh egrpkqkrhr crnpnkldvn sltgeervql inrrnarkvg
     2101 gafapplkdl crflkensey gvapewgdvv kqsgflpesm yeriltgpvv reevsrrgrr
     2161 pksgiakata aaaaasatsv sgnpllangl lpgvdlttlq alqqnlqnlq slqvtaglmg
     2221 mptglpsgge aknmaamfpm llsgmaglpn llgmgglltk ptesgtedkk gsdskesegk
     2281 tertesqsse nggensvsss pstsstaaln taaaanplal nplllsnily pgmlltpgln
     2341 lhiptlsqsn tfdvqnknsd lgssksvevk eedsrikdqe dkggtepspl nenstdegse
     2401 kadassgsds tssssedsds sned
//
LOCUS       NP_001368909             681 aa            linear   PRI 29-DEC-2022
DEFINITION  zinc finger protein 23 isoform e [Homo sapiens].
ACCESSION   NP_001368909
VERSION     NP_001368909.1
DBSOURCE    REFSEQ: accession NM_001381980.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 681)
  AUTHORS   Wei P, Wang H, Li Y and Guo R.
  TITLE     Nucleolar small molecule RNA SNORA75 promotes endometrial
            receptivity by regulating the function of miR-146a-3p and ZNF23
  JOURNAL   Aging (Albany NY) 13 (11), 14924-14939 (2021)
   PUBMED   34030136
  REMARK    GeneRIF: Nucleolar small molecule RNA SNORA75 promotes endometrial
            receptivity by regulating the function of miR-146a-3p and ZNF23.
REFERENCE   2  (residues 1 to 681)
  AUTHORS   Cai L, Zhang Q, Du L and Zheng F.
  TITLE     Silencing of miR-1246 Induces Cell Cycle Arrest and Apoptosis in
            Cisplatin-Resistant Ovarian Cancer Cells by Promoting ZNF23
            Transcription
  JOURNAL   Cytogenet Genome Res 161 (10-11), 488-500 (2021)
   PUBMED   34923485
  REMARK    GeneRIF: Silencing of miR-1246 Induces Cell Cycle Arrest and
            Apoptosis in Cisplatin-Resistant Ovarian Cancer Cells by Promoting
            ZNF23 Transcription.
REFERENCE   3  (residues 1 to 681)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 681)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 681)
  AUTHORS   Zhang X, Ding C, Tian H, Dong X, Meng X, Zhu W, Liu B, Wang L,
            Huang M and Li C.
  TITLE     ZNF23 Suppresses Cutaneous Melanoma Cell Malignancy via
            Mitochondria-Dependent Pathway
  JOURNAL   Cell Physiol Biochem 43 (1), 147-157 (2017)
   PUBMED   28848158
  REMARK    GeneRIF: Ectopic expression of ZNF23 induced cell apoptosis by
            activation of caspase-3, p27, p53 expression and down-regulation of
            Bcl-2 through mitochondria-dependent pathway.
REFERENCE   6  (residues 1 to 681)
  AUTHORS   Huang C, Jia Y, Yang S, Chen B, Sun H, Shen F and Wang Y.
  TITLE     Characterization of ZNF23, a KRAB-containing protein that is
            downregulated in human cancers and inhibits cell cycle progression
  JOURNAL   Exp Cell Res 313 (2), 254-263 (2007)
   PUBMED   17137575
  REMARK    GeneRIF: ZNF23 is a new member of KRAB-ZNF superfamily with
            growth-inhibitory ability and its downregulation may contribute to
            carcinogenesis
REFERENCE   7  (residues 1 to 681)
  AUTHORS   Zhou L, Zhu C, Luo K, Li Y, Pi H, Yuan W, Wang Y, Huang C, Liu M
            and Wu X.
  TITLE     Identification and characterization of two novel zinc finger genes,
            ZNF359 and ZFP28, in human development
  JOURNAL   Biochem Biophys Res Commun 295 (4), 862-868 (2002)
   PUBMED   12127974
  REMARK    GeneRIF: Characterization of ZNF359 and its role in human
            development
REFERENCE   8  (residues 1 to 681)
  AUTHORS   Abrink M, Aveskogh M and Hellman L.
  TITLE     Isolation of cDNA clones for 42 different Kruppel-related zinc
            finger proteins expressed in the human monoblast cell line U-937
  JOURNAL   DNA Cell Biol 14 (2), 125-136 (1995)
   PUBMED   7865130
REFERENCE   9  (residues 1 to 681)
  AUTHORS   Cannizzaro LA, Aronson MM and Thiesen HJ.
  TITLE     Human zinc finger gene ZNF23 (Kox16) maps to a zinc finger gene
            cluster on chromosome 16q22, and ZNF32 (Kox30) to chromosome region
            10q23-q24
  JOURNAL   Hum Genet 91 (4), 383-385 (1993)
   PUBMED   8500793
REFERENCE   10 (residues 1 to 681)
  AUTHORS   Thiesen HJ.
  TITLE     Multiple genes encoding zinc finger domains are expressed in human
            T cells
  JOURNAL   New Biol 2 (4), 363-374 (1990)
   PUBMED   2288909
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010547.9.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2495775.1,
                                           SRR1803616.273568.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..681
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.2"
     Protein         1..681
                     /product="zinc finger protein 23 isoform e"
                     /note="zinc finger protein 359; zinc finger protein 32;
                     kruppel-like zinc finger factor X31; zinc finger protein
                     23 (KOX 16); zinc finger protein 612"
                     /calculated_mol_wt=77332
     Region          10..69
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          180..200
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          208..228
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(208,211,224,228)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          224..644
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          236..256
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(236,239,252,256)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          264..284
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(264,267,280,284)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          292..312
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(292,295,308,312)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          320..340
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          348..368
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(348,351,364,368)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          376..396
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(376,379,392,396)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(381,383,385,387..388,391..392,395,409,411,415..416,
                     419..420,423,437,439,441,443..444,447..448,451)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          404..424
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          432..452
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          460..480
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          488..508
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          516..536
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          544..564
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(544,547,560,564)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(549,551,553,555..556,559..560,563,577,579,583..584,
                     587..588,591,605,607,609,611..612,615..616,619)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          572..592
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          600..620
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          628..648
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          656..676
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..681
                     /gene="ZNF23"
                     /gene_synonym="KOX16; Zfp612; ZNF359; ZNF612"
                     /coded_by="NM_001381980.1:684..2729"
                     /note="isoform e is encoded by transcript variant 20"
                     /db_xref="GeneID:7571"
                     /db_xref="HGNC:HGNC:13023"
                     /db_xref="MIM:194527"
ORIGIN      
        1 mdfhglqksv tfedvavyft qaewdglspa qrtlyrdvml enygnvaslg fpllkpavis
       61 qleggselgg ssplaagtgl qglqtdiqtd ndltkemyeg kenvsfelqr dfsqetdfse
      121 asllekqqev hsagnikkek sntidgtvkd etspveecff sqssnsyqch titgeqpsgc
      181 tglgksisfd tklvkheiin seerpfkcee lvepfrcdsq liqhqennte ekpyqcsecg
      241 kafsinekli whqrlhsgek pfkcvecgks fsysshyith qtihsgekpy qckmcgkafs
      301 vngslsrhqr ihtgekpyqc kecgngfscs sayithqrvh tgekpyecnd cgkafnvnak
      361 liqhqrihtg ekpyecnecg kgfrcssqlr qhqsihtgek pyqckecgkg fnnntkliqh
      421 qrihtgekpy ectecgkafs vkgkliqhqr ihtgekpyec necgkafrcn sqfrqhlrih
      481 tgekpyecne cgkafsvngk lmrhqrihtg ekpfecnecg rcftskrnll dhhrihtgek
      541 pyqckecgka fsinakltrh qrihtgekpf kcmecekafs cssnyivhqr ihtgekpfqc
      601 kecgkafhvn ahlirhqrsh tgekpfrcve cgkgfsfssd yiihqtvhtw kkpymcsvcg
      661 kafrfsfqls qhqsvhsegk s
//
LOCUS       NP_001337140              45 aa            linear   PRI 30-DEC-2022
DEFINITION  thymosin beta-15B isoform 1 [Homo sapiens].
ACCESSION   NP_001337140
VERSION     NP_001337140.1
DBSOURCE    REFSEQ: accession NM_001350211.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 45)
  AUTHORS   Banyard J, Barrows C and Zetter BR.
  TITLE     Differential regulation of human thymosin beta 15 isoforms by
            transforming growth factor beta 1
  JOURNAL   Genes Chromosomes Cancer 48 (6), 502-509 (2009)
   PUBMED   19296525
  REMARK    GeneRIF: Our data show that the TMSB15A and TMSB15B isoforms have
            distinct expression patterns in different tumor cell lines and
            tissues.
REFERENCE   2  (residues 1 to 45)
  AUTHORS   Banyard J, Hutchinson LM and Zetter BR.
  TITLE     Thymosin beta-NB is the human isoform of rat thymosin beta15
  JOURNAL   Ann N Y Acad Sci 1112, 286-296 (2007)
   PUBMED   17567946
  REMARK    GeneRIF: TMSL8 is well conserved in many mammalian species. Two
            isoforms, thymosin beta15a and b, exist at different locations,
            1.4Mb apart, on human chromosome X, with 98% identity across the
            coding sequences.
            Review article
REFERENCE   3  (residues 1 to 45)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D,
            Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL,
            Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles
            ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman
            R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P,
            Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E,
            Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA,
            Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A,
            Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM,
            Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N,
            Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford
            EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J,
            Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E,
            Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke
            G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V,
            Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis
            C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H,
            Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ,
            Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL,
            Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert
            J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock
            R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD,
            Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M,
            Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob
            L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S,
            Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A,
            Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L,
            Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD,
            Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall
            J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G,
            Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N,
            Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R,
            Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM,
            Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S,
            Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C,
            Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC,
            Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor
            PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K,
            Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana
            D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A,
            Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G,
            Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL,
            Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D,
            Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ,
            Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M,
            Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T,
            Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   4  (residues 1 to 45)
  AUTHORS   Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR
            and Vandekerckhove J.
  TITLE     Exploring proteomes and analyzing protein processing by mass
            spectrometric identification of sorted N-terminal peptides
  JOURNAL   Nat Biotechnol 21 (5), 566-569 (2003)
   PUBMED   12665801
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC019900.1.
            
            Transcript Variant: This variant (2) represents use of an alternate
            promoter and contains a longer 5' UTR compared to variant 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.532723.1,
                                           SRR7410570.693133.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..45
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.2"
     Protein         1..45
                     /product="thymosin beta-15B isoform 1"
                     /note="Thymosin beta-15A; NB thymosin beta; Thymosin-like
                     protein 8"
                     /calculated_mol_wt=5098
     Region          1..45
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P0CG35.1)"
     Region          3..39
                     /region_name="Thymosin"
                     /note="Thymosin beta-4 family; pfam01290"
                     /db_xref="CDD:396038"
     CDS             1..45
                     /gene="TMSB15B"
                     /gene_synonym="Tbeta15b; TMSB15A; TMSL8; TMSNB"
                     /coded_by="NM_001350211.2:859..996"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS59172.1"
                     /db_xref="GeneID:286527"
                     /db_xref="HGNC:HGNC:28612"
                     /db_xref="MIM:301011"
ORIGIN      
        1 msdkpdlsev ekfdrsklkk tnteekntlp sketiqqeke cvqts
//
LOCUS       NP_001309062             818 aa            linear   PRI 30-DEC-2022
DEFINITION  zinc finger protein 160 isoform a [Homo sapiens].
ACCESSION   NP_001309062 XP_011525765
VERSION     NP_001309062.1
DBSOURCE    REFSEQ: accession NM_001322133.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 818)
  AUTHORS   Takahashi K, Sugi Y, Hosono A and Kaminogawa S.
  TITLE     Epigenetic regulation of TLR4 gene expression in intestinal
            epithelial cells for the maintenance of intestinal homeostasis
  JOURNAL   J Immunol 183 (10), 6522-6529 (2009)
   PUBMED   19846881
  REMARK    GeneRIF: TLR4 gene transcription was repressed by epigenetic
            regulations, which were, at least in part, dependent on ZNF160.
REFERENCE   2  (residues 1 to 818)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   3  (residues 1 to 818)
  AUTHORS   Mark C, Looman C, Abrink M and Hellman L.
  TITLE     Molecular cloning and preliminary functional analysis of two novel
            human KRAB zinc finger proteins, HKr18 and HKr19
  JOURNAL   DNA Cell Biol 20 (5), 275-286 (2001)
   PUBMED   11410164
REFERENCE   4  (residues 1 to 818)
  AUTHORS   Hattori A, Okumura K, Nagase T, Kikuno R, Hirosawa M and Ohara O.
  TITLE     Characterization of long cDNA clones from human adult spleen
  JOURNAL   DNA Res 7 (6), 357-366 (2000)
   PUBMED   11214971
REFERENCE   5  (residues 1 to 818)
  AUTHORS   Abrink M, Aveskogh M and Hellman L.
  TITLE     Isolation of cDNA clones for 42 different Kruppel-related zinc
            finger proteins expressed in the human monoblast cell line U-937
  JOURNAL   DNA Cell Biol 14 (2), 125-136 (1995)
   PUBMED   7865130
REFERENCE   6  (residues 1 to 818)
  AUTHORS   Halford S, Mattei MG, Daw S and Scambler PJ.
  TITLE     A novel C2H2 zinc-finger protein gene (ZNF160) maps to human
            chromosome 19q13.3-q13.4
  JOURNAL   Genomics 25 (1), 322-323 (1995)
   PUBMED   7774943
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010328.4.
            On Apr 6, 2016 this sequence version replaced XP_011525765.1.
            
            Summary: The protein encoded by this gene is a Kruppel-related zinc
            finger protein which is characterized by the presence of an
            N-terminal repressor domain, the Kruppel-associated box (KRAB). The
            KRAB domain is a potent repressor of transcription; thus this
            protein may function in transcription regulation. Multiple
            transcript variants have been found for this gene. [provided by
            RefSeq, Apr 2016].
            
            Transcript Variant: This variant (9), as well as variants 1-8 and
            10-12, encodes isoform (a).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.517864.1,
                                           SRR14038195.1233219.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41-q13.42"
     Protein         1..818
                     /product="zinc finger protein 160 isoform a"
                     /note="KRAB zinc finger protein KR18; zinc finger protein
                     5; zinc finger protein Kr18; zinc finger protein HZF5"
                     /calculated_mol_wt=93981
     Region          8..68
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          <216..332
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          259..279
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          287..307
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          315..335
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(320,322,324,326..327,330..331,334,348,350,354..355,
                     358..359,362,376,378,380,382..383,386..387,390)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          327..351
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          343..363
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          367..810
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          371..391
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          399..419
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          427..447
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          455..475
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          483..503
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(488,490,492,494..495,498..499,502,516,518,522..523,
                     526..527,530,544,546,548,550..551,554..555,558)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          511..531
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          539..559
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          567..587
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          595..615
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          623..643
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(628,630,632,634..635,638..639,642,656,658,662..663,
                     666..667,670,684,686,688,690..691,694..695,698)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          651..671
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          679..699
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          707..727
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          735..755
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          763..783
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          791..811
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..818
                     /gene="ZNF160"
                     /gene_synonym="F11; HKr18; HZF5; KR18"
                     /coded_by="NM_001322133.2:425..2881"
                     /note="isoform a is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS12859.1"
                     /db_xref="GeneID:90338"
                     /db_xref="HGNC:HGNC:12948"
                     /db_xref="MIM:600398"
ORIGIN      
        1 maltqvrltf rdvaiefsqe ewkcldpaqr ilyrdvmlen ywnlvslglc hfdmniisml
       61 eegkepwtvk scvkiarkpr tpecvkgvvt dippkctikd llpkeksste avfhtvvler
      121 hespdiedfs fkepqknvhd fecqwrddtg nykgvlmaqk egkrdqrdrr dienklmnnq
      181 lgvsfhshlp elqlfqgegk myecnqveks tnngssvspl qqipssvqth rskkyhelnh
      241 fslltqrrka nscgkpykcn ecgkaftqns nltshrrihs gekpykcsec gktftvrsnl
      301 tihqvihtge kpykchecgk vfrhnsylat hrrihtgekp ykcnecgkaf rghsnltthq
      361 lihtgekpfk cnecgklftq nshlishwri htgekpykcn ecgkafsvrs slaihqtiht
      421 gekpykcnec gkvfrynsyl grhrrvhtge kpykcnecgk afsmhsnlat hqvihtgtkp
      481 fkcnecskvf tqnsqlanhr rihtgekpyk cnecgkafsv rssltthqai hsgekpykci
      541 ecgksftqks hlrshrgihs gekpykcnec gkvfaqtsql arhwrvhtge kpykcndcgr
      601 afsdrssltf hqaihtgekp ykchecgkvf rhnsylathr rihtgekpyk cnecgkafsm
      661 hsnltthkvi htgekpykcn qcgkvftqns hlanhqrtht gekpyrcnec gkafsvrssl
      721 tthqaihtgk kpykcnecgk vftqnahlan hrrihtgekp yrctecgkaf rvrssltthm
      781 aihtgekryk cnecgkvfrq ssnlashhrm htgekpyk
//
LOCUS       NP_001341245             291 aa            linear   PRI 30-DEC-2022
DEFINITION  RNA-binding Raly-like protein isoform 2 [Homo sapiens].
ACCESSION   NP_001341245
VERSION     NP_001341245.1
DBSOURCE    REFSEQ: accession NM_001354316.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 291)
  AUTHORS   Xia Y, Ye S, Yang Y, Liu Y and Tong G.
  TITLE     Over-expression of RALYL suppresses the progression of ovarian
            clear cell carcinoma through inhibiting MAPK and CDH1 signaling
            pathways
  JOURNAL   Int J Med Sci 18 (3), 785-791 (2021)
   PUBMED   33437214
  REMARK    GeneRIF: Over-expression of RALYL suppresses the progression of
            ovarian clear cell carcinoma through inhibiting MAPK and CDH1
            signaling pathways.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 291)
  AUTHORS   Zhang Y, Wang J, Liu X and Liu H.
  TITLE     Exploring the role of RALYL in Alzheimer's disease reserve by
            network-based approaches
  JOURNAL   Alzheimers Res Ther 12 (1), 165 (2020)
   PUBMED   33298176
  REMARK    GeneRIF: Exploring the role of RALYL in Alzheimer's disease reserve
            by network-based approaches.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 291)
  AUTHORS   Cobb J, Cule E, Moncrieffe H, Hinks A, Ursu S, Patrick F,
            Kassoumeri L, Flynn E, Bulatovic M, Wulffraat N, van Zelst B, de
            Jonge R, Bohm M, Dolezalova P, Hirani S, Newman S, Whitworth P,
            Southwood TR, De Iorio M, Wedderburn LR and Thomson W.
  CONSRTM   Childhood Arthritis Response to Medication Study (CHARMS);
            Childhood Arthritis Prospective Study (CAPS); BSPAR study group
  TITLE     Genome-wide data reveal novel genes for methotrexate response in a
            large cohort of juvenile idiopathic arthritis cases
  JOURNAL   Pharmacogenomics J 14 (4), 356-364 (2014)
   PUBMED   24709693
REFERENCE   4  (residues 1 to 291)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   5  (residues 1 to 291)
  AUTHORS   Xin X, Rual JF, Hirozane-Kishikawa T, Hill DE, Vidal M, Boone C and
            Thierry-Mieg N.
  TITLE     Shifted Transversal Design smart-pooling for high coverage
            interactome mapping
  JOURNAL   Genome Res 19 (7), 1262-1269 (2009)
   PUBMED   19447967
REFERENCE   6  (residues 1 to 291)
  AUTHORS   Ji CN, Chen JZ, Xie Y, Wang S, Qian J, Zhao E, Jin W, Wu XZ, Xu WX,
            Ying K and Mao YM.
  TITLE     A novel cDNA encodes a putative hRALY-like protein, hRALYL
  JOURNAL   Mol Biol Rep 30 (1), 61-67 (2003)
   PUBMED   12688537
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012400.11, AC103816.2, AC027043.7, AC087368.7 and AC009901.6.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.57061.1,
                                           SRR1660807.184232.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145544, SAMN03267769
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..291
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.2"
     Protein         1..291
                     /product="RNA-binding Raly-like protein isoform 2"
                     /note="RNA-binding Raly-like protein; hnRNP core protein
                     C-like 3; heterogeneous nuclear ribonucleoprotein C-like
                     3"
                     /calculated_mol_wt=32199
     Region          15..97
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     Region          171..192
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SE5.2)"
     Region          199..>244
                     /region_name="XhlA"
                     /note="Haemolysin XhlA; pfam10779"
                     /db_xref="CDD:402419"
     Region          249..291
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SE5.2)"
     CDS             1..291
                     /gene="RALYL"
                     /gene_synonym="HNRPCL3"
                     /coded_by="NM_001354316.2:1207..2082"
                     /note="isoform 2 is encoded by transcript variant 19"
                     /db_xref="CCDS:CCDS55253.1"
                     /db_xref="GeneID:138046"
                     /db_xref="HGNC:HGNC:27036"
                     /db_xref="MIM:614648"
ORIGIN      
        1 mtgktqtsnv tnkndpksin srvfignlnt aivkkvdiea ifskygkivg csvhkgyafv
       61 qymserhara avagenarvi agqpldinma gepkpyrpkp gnkrplsaly rleskepfls
      121 vggyvfdydy yrddfynrlf dyhgrvpppp raviplkrpr vavtttrrgk gvfsmkggsr
      181 stasgstgsk lksdelqtik keltqiktki dsllgrleki ekqqkaeaea qkkqleeslv
      241 liqeecvsei adhsteepae ggpdadgeem tdgieedfde dgghelflqi k
//
LOCUS       NP_001184224             677 aa            linear   PRI 31-DEC-2022
DEFINITION  extracellular matrix protein 2 isoform 2 precursor [Homo sapiens].
ACCESSION   NP_001184224
VERSION     NP_001184224.1
DBSOURCE    REFSEQ: accession NM_001197295.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 677)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   2  (residues 1 to 677)
  AUTHORS   Nishiu J, Tanaka T and Nakamura Y.
  TITLE     Identification of a novel gene (ECM2) encoding a putative
            extracellular matrix protein expressed predominantly in adipose and
            female-specific tissues and its chromosomal localization to 9q22.3
  JOURNAL   Genomics 52 (3), 378-381 (1998)
   PUBMED   9790758
REFERENCE   3  (residues 1 to 677)
  AUTHORS   Oritani K, Kanakura Y, Aoyama K, Yokota T, Copeland NG, Gilbert DJ,
            Jenkins NA, Tomiyama Y, Matsuzawa Y and Kincade PW.
  TITLE     Matrix glycoprotein SC1/ECM2 augments B lymphopoiesis
  JOURNAL   Blood 90 (9), 3404-3413 (1997)
   PUBMED   9345023
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC300418.1, AB011792.1,
            BX537976.1 and BM972177.1.
            
            Summary: ECM2 encodes extracellular matrix protein 2, so named
            because it shares extensive similarity with known extracelluar
            matrix proteins. Three transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Oct
            2010].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction at the 5' end of an exon compared to variant 1. The
            resulting isoform (2) has the same N- and C-termini but is shorter
            compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296458.1, SRR18074969.1776250.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..677
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.31"
     Protein         1..677
                     /product="extracellular matrix protein 2 isoform 2
                     precursor"
                     /note="matrix glycoprotein SC1/ECM2; extracellular matrix
                     protein 2, female organ and adipocyte specific"
                     /calculated_mol_wt=75127
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2367
     mat_peptide     21..677
                     /product="extracellular matrix protein 2 isoform 2"
                     /calculated_mol_wt=75127
     Region          103..157
                     /region_name="VWC"
                     /note="von Willebrand factor type C domain; pfam00093"
                     /db_xref="CDD:278520"
     Region          <298..>550
                     /region_name="PRK15370"
                     /note="type III secretion system effector E3 ubiquitin
                     transferase SlrP"
                     /db_xref="CDD:185268"
     Region          299..322
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          323..346
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          347..372
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          373..393
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          394..417
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          418..443
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          444..464
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          465..488
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          469..>651
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:227223"
     Region          489..514
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          561..584
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          588..610
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          611..631
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          640..665
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..677
                     /gene="ECM2"
                     /coded_by="NM_001197295.2:86..2119"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="GeneID:1842"
                     /db_xref="HGNC:HGNC:3154"
                     /db_xref="MIM:603479"
ORIGIN      
        1 mkiavlfcff lliifqtdfg kneeiprkqr rkiyhrrlrk sstshkhrsn rqlgiqqttv
       61 ftpvarlpiv nfdysmeekf esfssfpgve ssynvlpgkk ghclvkgitm ynkavwspep
      121 cttclcsdgr vlcdetmchp qrcpqtvipe geccpvcsat eqreptnllh kqlpppqvgm
      181 drivrkealq seedeevkee dteqkretpe srnqgqlyse gdsrggdrkq rpgeerrlah
      241 qqqrqgreee edeeeegeeg eedeedeedp vrgdmfrmps rsplpapprg tlrlpsgcsl
      301 syrtiscina mltqipplta pqitsleltg nsiasipdea fnglpnlerl dlsknnitss
      361 gigpkafkll kklmrlnmdg nnliqipsql pstleelkvn ennlqaidee slsdlnqlvt
      421 lelegnnlse anvnplafkp lkslaylrlg knkfriipqg lpgsieelyl ennqieeite
      481 icfnhtrkin vivlrynkie enriaplawi nqenlesidl synklyhvps ylpksllhlv
      541 llgnqierip gyvfghmepg leylylsfnk laddgmdrvs fygayhslre lfldhndlks
      601 ippgiqemka lhflrlnnnk irnilpeeic naeedddsnl ehlhlennyi kireipsytf
      661 scirsyssiv lkpqnik
//
LOCUS       NP_001243678             302 aa            linear   PRI 31-DEC-2022
DEFINITION  protein SSUH2 homolog isoform 2 [Homo sapiens].
ACCESSION   NP_001243678
VERSION     NP_001243678.1
DBSOURCE    REFSEQ: accession NM_001256749.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 302)
  AUTHORS   Xiong F, Ji Z, Liu Y, Zhang Y, Hu L, Yang Q, Qiu Q, Zhao L, Chen D,
            Tian Z, Shang X, Zhang L, Wei X, Liu C, Yu Q, Zhang M, Cheng J,
            Xiong J, Li D, Wu X, Yuan H, Zhang W and Xu X.
  TITLE     Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I
  JOURNAL   Hum Mutat 38 (1), 95-104 (2017)
   PUBMED   27680507
  REMARK    GeneRIF: our observations demonstrate that SSUH2 disrupts dental
            formation and that this novel gene, together with other
            odontogenesis genes, is involved in tooth development.
REFERENCE   2  (residues 1 to 302)
  AUTHORS   Reinartz A, Ehling J, Franz S, Simon V, Bravo IG, Tessmer C,
            Zentgraf H, Lyer S, Schneider U, Koster J, Raupach K, Kammerer E,
            Klaus C, Tischendorf JJ, Kopitz J, Alonso A and Gassler N.
  TITLE     Small intestinal mucosa expression of putative chaperone fls485
  JOURNAL   BMC Gastroenterol 10, 27 (2010)
   PUBMED   20205943
  REMARK    GeneRIF: Expression and synthesis of fls485 are found in surface
            lining epithelia of normal human intestinal mucosa and deriving
            epithelial cell lines.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC034187.6.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC052614.1, SRR14038196.3432867.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..302
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     Protein         1..302
                     /product="protein SSUH2 homolog isoform 2"
                     /note="protein ssu-2 homolog; protein SSUH2 homolog"
                     /calculated_mol_wt=34272
     Region          <66..>173
                     /region_name="DnaJ"
                     /note="DnaJ-class molecular chaperone with C-terminal Zn
                     finger domain [Posttranslational modification, protein
                     turnover, chaperones]; COG0484"
                     /db_xref="CDD:223560"
     CDS             1..302
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /coded_by="NM_001256749.3:287..1195"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS2568.2"
                     /db_xref="GeneID:51066"
                     /db_xref="HGNC:HGNC:24809"
                     /db_xref="MIM:617479"
ORIGIN      
        1 mteevareal lsfvdskccy sstvagdlvi qelkrqtlcr yrletfsesr isewtfqpft
       61 nhsvdgpqrg asprlwdikv qgppmfqedt rkfqvphssl vkechkchgr grykcsgchg
      121 agtvrcpscc gakrkakqsr rcqlcagsgr rrcstcsgrg nktcatckge kkllhfiqlv
      181 imwknslfef vsehrlncpr ellakakgen lfkdensvvy pivdfplrdi slasqrgiae
      241 hsaalasrar vlqqrqtiel ipltevhywy qgktyvyyiy gtdhqvyavd yperyccgct
      301 iv
//
LOCUS       NP_001345342             496 aa            linear   PRI 31-DEC-2022
DEFINITION  zinc finger and SCAN domain-containing protein 5C [Homo sapiens].
ACCESSION   NP_001345342
VERSION     NP_001345342.1
DBSOURCE    REFSEQ: accession NM_001358413.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 496)
  AUTHORS   Sun Y, Zhang H, Kazemian M, Troy JM, Seward C, Lu X and Stubbs L.
  TITLE     ZSCAN5B and primate-specific paralogs bind RNA polymerase III genes
            and extra-TFIIIC (ETC) sites to modulate mitotic progression
  JOURNAL   Oncotarget 7 (45), 72571-72592 (2016)
   PUBMED   27732952
REFERENCE   2  (residues 1 to 496)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A,
            Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel
            S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA,
            Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J,
            Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M,
            Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W,
            Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V,
            Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready
            P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S,
            Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer
            J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D,
            Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo
            N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS,
            DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA,
            Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM and Lucas
            SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011506.3.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA2148874 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000534327.7/ ENSP00000435234.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     Protein         1..496
                     /product="zinc finger and SCAN domain-containing protein
                     5C"
                     /note="zinc finger and SCAN domain containing 5C,
                     pseudogene; zinc finger and SCAN domain-containing protein
                     5-like protein 2; zinc finger and SCAN domain-containing
                     protein 5C pseudogene; putative zinc finger and SCAN
                     domain-containing protein 5C"
                     /calculated_mol_wt=55598
     Region          1..38
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGD5.1)"
     Region          40..124
                     /region_name="SCAN"
                     /note="SCAN oligomerization domain; cd07936"
                     /db_xref="CDD:153421"
     Site            order(47..48,50..52,57..59,61..62,65..66,69..70,72..75,
                     79..80,83..84,87..89,91..92,94..97,116,119..120,122..124)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:153421"
     Region          149..188
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGD5.1)"
     Region          203..347
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGD5.1)"
     Region          356..378
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          358..378
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          371..393
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          386..406
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          410..>473
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          414..434
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(419,421,423,425..426,429..430,433,447,449,453..454,
                     457..458,461,475,477,479,481..482,485..486,489)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          442..462
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          468..490
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          470..490
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..496
                     /gene="ZSCAN5C"
                     /gene_synonym="ZNF495C; ZSCAN5CP"
                     /coded_by="NM_001358413.3:178..1668"
                     /db_xref="CCDS:CCDS86811.1"
                     /db_xref="GeneID:649137"
                     /db_xref="HGNC:HGNC:34294"
ORIGIN      
        1 maanctssws lgescnspgs eppqsmpspa tqlgnhdsdp etchvnfrmf scpkesdpiq
       61 alrkltelch lwlrpdlhtk eqildmlvme qfmismpqel qvlvmmngvq sckdledllr
      121 nnrrpkkwsv vsflgkeylm qesdvemaea pasvrddprh vssqrtssvn qmcpeegqas
      181 qelqtlprvp alfrrqeedf llpettvmkg dpkalrpkpt lekdleedre enpgltspep
      241 qlpnsptgvv gakegkepqk rasvenvdad tpsacvvere asthsgsrgd alnlrglkrs
      301 kpdatsisqe epqgeatpvg nrespgqaei npvhspgpag pvshpsgqev kellpfacev
      361 cgkrfkyrgk lavhtrshtg erlfqcnlcg krfmqriglq fhqrthtger pytcdicqkq
      421 ftqksylkch krshtgekpf eckdckkvft ykanlkehqr ihsgekphkc skcprafgrp
      481 atlrrhqkth reatsq
//
LOCUS       NP_001263254             365 aa            linear   PRI 31-DEC-2022
DEFINITION  histone-lysine N-methyltransferase SETMAR isoform 3 [Homo sapiens].
ACCESSION   NP_001263254
VERSION     NP_001263254.1
DBSOURCE    REFSEQ: accession NM_001276325.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 365)
  AUTHORS   Chen Q, Bates AM, Hanquier JN, Simpson E, Rusch DB, Podicheti R,
            Liu Y, Wek RC, Cornett EM and Georgiadis MM.
  TITLE     Structural and genome-wide analyses suggest that transposon-derived
            protein SETMAR alters transcription and splicing
  JOURNAL   J Biol Chem 298 (5), 101894 (2022)
   PUBMED   35378129
  REMARK    GeneRIF: Structural and genome-wide analyses suggest that
            transposon-derived protein SETMAR alters transcription and
            splicing.
REFERENCE   2  (residues 1 to 365)
  AUTHORS   Antoine-Lorquin A, Arensburger P, Arnaoty A, Asgari S, Batailler M,
            Beauclair L, Belleannee C, Buisine N, Coustham V, Guyetant S, Helou
            L, Lecomte T, Pitard B, Stevant I and Bigot Y.
  TITLE     Two repeated motifs enriched within some enhancers and origins of
            replication are bound by SETMAR isoforms in human colon cells
  JOURNAL   Genomics 113 (3), 1589-1604 (2021)
   PUBMED   33812898
  REMARK    GeneRIF: Two repeated motifs enriched within some enhancers and
            origins of replication are bound by SETMAR isoforms in human colon
            cells.
REFERENCE   3  (residues 1 to 365)
  AUTHORS   Moon SW, Son HJ, Mo HY, Choi EJ, Yoo NJ and Lee SH.
  TITLE     Mutation and expression alterations of histone methylation-related
            NSD2, KDM2B and SETMAR genes in colon cancers
  JOURNAL   Pathol Res Pract 219, 153354 (2021)
   PUBMED   33621919
  REMARK    GeneRIF: Mutation and expression alterations of histone
            methylation-related NSD2, KDM2B and SETMAR genes in colon cancers.
REFERENCE   4  (residues 1 to 365)
  AUTHORS   Tellier M and Chalmers R.
  TITLE     The roles of the human SETMAR (Metnase) protein in illegitimate DNA
            recombination and non-homologous end joining repair
  JOURNAL   DNA Repair (Amst) 80, 26-35 (2019)
   PUBMED   31238295
  REMARK    GeneRIF: The roles of the human SETMAR protein in illegitimate DNA
            recombination and non-homologous end joining repair were studied.
            Contrary to previous reports, it was found that wild type SETMAR
            had little to no effect on the rate of cell division, DNA
            integration into the genome or non-homologous end joining.
REFERENCE   5  (residues 1 to 365)
  AUTHORS   Roman Y, Oshige M, Lee YJ, Goodwin K, Georgiadis MM, Hromas RA and
            Lee SH.
  TITLE     Biochemical characterization of a SET and transposase fusion
            protein, Metnase: its DNA binding and DNA cleavage activity
  JOURNAL   Biochemistry 46 (40), 11369-11376 (2007)
   PUBMED   17877369
  REMARK    GeneRIF: Results suggest that Metnase's DNA cleavage activity,
            unlike those of other eukaryotic transposases, is not coupled to
            its sequence-specific DNA binding.
REFERENCE   6  (residues 1 to 365)
  AUTHORS   Keravala A, Liu D, Lechman ER, Wolfe D, Nash JA, Lampe DJ and
            Robbins PD.
  TITLE     Hyperactive Himar1 transposase mediates transposition in cell
            culture and enhances gene expression in vivo
  JOURNAL   Hum Gene Ther 17 (10), 1006-1018 (2006)
   PUBMED   16989604
  REMARK    GeneRIF: These data suggest that vectors based on the Himar1
            transposable element, in conjunction with the hyperactive mutant
            transposase C9, may be suitable vectors for gene therapy
            applications.
REFERENCE   7  (residues 1 to 365)
  AUTHORS   Cordaux R, Udit S, Batzer MA and Feschotte C.
  TITLE     Birth of a chimeric primate gene by capture of the transposase gene
            from a mobile element
  JOURNAL   Proc Natl Acad Sci U S A 103 (21), 8101-8106 (2006)
   PUBMED   16672366
REFERENCE   8  (residues 1 to 365)
  AUTHORS   Lee SH, Oshige M, Durant ST, Rasila KK, Williamson EA, Ramsey H,
            Kwan L, Nickoloff JA and Hromas R.
  TITLE     The SET domain protein Metnase mediates foreign DNA integration and
            links integration to nonhomologous end-joining repair
  JOURNAL   Proc Natl Acad Sci U S A 102 (50), 18075-18080 (2005)
   PUBMED   16332963
  REMARK    GeneRIF: Metnase is a nonhomologous end-joining repair protein that
            regulates genomic integration of exogenous DNA and establishes a
            relationship among histone modification, DNA repair, and
            integration.
REFERENCE   9  (residues 1 to 365)
  AUTHORS   Robertson HM and Zumpano KL.
  TITLE     Molecular evolution of an ancient mariner transposon, Hsmar1, in
            the human genome
  JOURNAL   Gene 205 (1-2), 203-217 (1997)
   PUBMED   9461395
REFERENCE   10 (residues 1 to 365)
  AUTHORS   Berry R, Stevens TJ, Walter NA, Wilcox AS, Rubano T, Hopkins JA,
            Weber J, Goold R, Soares MB and Sikela JM.
  TITLE     Gene-based sequence-tagged-sites (STSs) as the basis for a human
            gene map
  JOURNAL   Nat Genet 10 (4), 415-423 (1995)
   PUBMED   7670491
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC023483.5 and AC034191.6.
            
            Summary: This gene encodes a fusion protein that contains an
            N-terminal histone-lysine N-methyltransferase domain and a
            C-terminal mariner transposase domain. The encoded protein binds
            DNA and functions in DNA repair activities including non-homologous
            end joining and double strand break repair. The SET domain portion
            of this protein specifically methylates histone H3 lysines 4 and
            36. This gene exists as a fusion gene only in anthropoid primates,
            other organisms lack mariner transposase domain. Alternate splicing
            results in multiple transcript variants. [provided by RefSeq, Jan
            2013].
            
            Transcript Variant: This variant (4) lacks the terminal exon and
            its transcription extends past a splice site that is used in
            variant 1, resulting in a novel 3' coding region and 3' UTR
            compared to variant 1. It encodes isoform 3 which is shorter and
            has a distinct C-terminus, compared to isoform 1. This isoform 3
            lacks the mariner transposase domain found in isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC011635.2, SRR14038196.2446804.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..365
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p26.1"
     Protein         1..365
                     /product="histone-lysine N-methyltransferase SETMAR
                     isoform 3"
                     /EC_number="2.1.1.357"
                     /note="histone-lysine N-methyltransferase SETMAR; SET
                     domain and mariner transposase fusion gene-containing
                     protein; SET domain and mariner transposase fusion
                     protein"
                     /calculated_mol_wt=40379
     Region          51..303
                     /region_name="SET_SETMAR"
                     /note="SET domain (including pre-SET and post-SET domains)
                     found in SET domain and mariner transposase fusion protein
                     (SETMAR) and similar proteins; cd10544"
                     /db_xref="CDD:380942"
     Site            order(149..151,190..192,220..224,262,286..289,298,300)
                     /site_type="other"
                     /note="SAM binding site"
                     /db_xref="CDD:380942"
     Site            order(149..151,168,175,178..179,181,191..195,198,209,
                     220..224,232,234,244,260,262)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:380942"
     Site            order(193..195,209,232,244,262)
                     /site_type="other"
                     /note="putative polypeptide substrate binding site
                     [polypeptide binding]"
                     /db_xref="CDD:380942"
     Site            order(226,287,289,294)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:380942"
     CDS             1..365
                     /gene="SETMAR"
                     /gene_synonym="Mar1; METNASE"
                     /coded_by="NM_001276325.2:3..1100"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS63528.1"
                     /db_xref="GeneID:6419"
                     /db_xref="HGNC:HGNC:10762"
                     /db_xref="MIM:609834"
ORIGIN      
        1 mfaeaakttr pcgmaefkek peapteqldv acgqenlpvg awppgaapap fqytpdhvvg
       61 pgadidptqi tfpgcicvkt pclpgtcscl rhgenyddns clrdigsggk yaepvfecnv
      121 lcrcsdhcrn rvvqkglqfh fqvfkthkkg wglrtlefip kgrfvceyag evlgfsevqr
      181 rihlqtksds nyiiairehv yngqvmetfv dptyignigr flnhscepnl lmipvridsm
      241 vpklalfaak divpeeelsy dysgrylnlt vsedkerldh gklrkpcycg aksctaflpf
      301 dsslycpvek sniscgneke psmcgsapsv fpsckrltle vslfsdkqla ppysgrqwla
      361 sftsa
//
LOCUS       NP_001381702             470 aa            linear   PRI 31-DEC-2022
DEFINITION  COP9 signalosome complex subunit 1 isoform 17 [Homo sapiens].
ACCESSION   NP_001381702 XP_016880024
VERSION     NP_001381702.1
DBSOURCE    REFSEQ: accession NM_001394773.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 470)
  AUTHORS   Fu H, Zhang Y, Chen Y, Chen J and Chen P.
  TITLE     CSN1 facilitates proliferation and migration of hepatocellular
            carcinoma cells by upregulating cyclin A2 expression
  JOURNAL   Mol Med Rep 23 (1) (2021)
   PUBMED   33200803
  REMARK    GeneRIF: CSN1 facilitates proliferation and migration of
            hepatocellular carcinoma cells by upregulating cyclin A2
            expression.
REFERENCE   2  (residues 1 to 470)
  AUTHORS   Feber A, Worth DC, Chakravarthy A, de Winter P, Shah K, Arya M,
            Saqib M, Nigam R, Malone PR, Tan WS, Rodney S, Freeman A, Jameson
            C, Wilson GA, Powles T, Beck S, Fenton T, Sharp TV, Muneer A and
            Kelly JD.
  TITLE     CSN1 Somatic Mutations in Penile Squamous Cell Carcinoma
  JOURNAL   Cancer Res 76 (16), 4720-4727 (2016)
   PUBMED   27325650
  REMARK    GeneRIF: We identified recurrent mutations in the novel penile
            cancer tumor suppressor genes CSN1(GPS1) and FAT1
REFERENCE   3  (residues 1 to 470)
  AUTHORS   Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y,
            van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ,
            Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ,
            Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B,
            Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM,
            Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E,
            Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ,
            Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U,
            Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB and
            Roepman R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 470)
  AUTHORS   Dubois EL, Gerber S, Kisselev A, Harel-Bellan A and Groisman R.
  TITLE     UV-dependent phosphorylation of COP9/signalosome in UV-induced
            apoptosis
  JOURNAL   Oncol Rep 35 (5), 3101-3105 (2016)
   PUBMED   26986008
  REMARK    GeneRIF: CSN1 appears to play a role not only in DNA repair but
            also in UV-induced apoptosis.
REFERENCE   5  (residues 1 to 470)
  AUTHORS   Cavadini S, Fischer ES, Bunker RD, Potenza A, Lingaraju GM, Goldie
            KN, Mohamed WI, Faty M, Petzold G, Beckwith RE, Tichkule RB,
            Hassiepen U, Abdulrahman W, Pantelic RS, Matsumoto S, Sugasawa K,
            Stahlberg H and Thoma NH.
  TITLE     Cullin-RING ubiquitin E3 ligase regulation by the COP9 signalosome
  JOURNAL   Nature 531 (7596), 598-603 (2016)
   PUBMED   27029275
REFERENCE   6  (residues 1 to 470)
  AUTHORS   Lyapina S, Cope G, Shevchenko A, Serino G, Tsuge T, Zhou C, Wolf
            DA, Wei N, Shevchenko A and Deshaies RJ.
  TITLE     Promotion of NEDD-CUL1 conjugate cleavage by COP9 signalosome
  JOURNAL   Science 292 (5520), 1382-1385 (2001)
   PUBMED   11337588
REFERENCE   7  (residues 1 to 470)
  AUTHORS   Bech-Otschir D, Kraft R, Huang X, Henklein P, Kapelari B, Pollmann
            C and Dubiel W.
  TITLE     COP9 signalosome-specific phosphorylation targets p53 to
            degradation by the ubiquitin system
  JOURNAL   EMBO J 20 (7), 1630-1639 (2001)
   PUBMED   11285227
REFERENCE   8  (residues 1 to 470)
  AUTHORS   Tsuge T, Matsui M and Wei N.
  TITLE     The subunit 1 of the COP9 signalosome suppresses gene expression
            through its N-terminal domain and incorporates into the complex
            through the PCI domain
  JOURNAL   J Mol Biol 305 (1), 1-9 (2001)
   PUBMED   11114242
  REMARK    GeneRIF: The N-terminal half of CSN1/GPS1 is required to repress
            c-fos expression and to inhibit AP-1 and SRE transactivation, while
            the C-terminal half allows integration of the protein into the COP9
            signalosome.
REFERENCE   9  (residues 1 to 470)
  AUTHORS   Seeger M, Kraft R, Ferrell K, Bech-Otschir D, Dumdey R, Schade R,
            Gordon C, Naumann M and Dubiel W.
  TITLE     A novel protein complex involved in signal transduction possessing
            similarities to 26S proteasome subunits
  JOURNAL   FASEB J 12 (6), 469-478 (1998)
   PUBMED   9535219
REFERENCE   10 (residues 1 to 470)
  AUTHORS   Spain BH, Bowdish KS, Pacal AR, Staub SF, Koo D, Chang CY, Xie W
            and Colicelli J.
  TITLE     Two human cDNAs, including a homolog of Arabidopsis FUS6 (COP11),
            suppress G-protein- and mitogen-activated protein kinase-mediated
            signal transduction in yeast and mammalian cells
  JOURNAL   Mol Cell Biol 16 (12), 6698-6706 (1996)
   PUBMED   8943324
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135056.4.
            On May 4, 2021 this sequence version replaced XP_016880024.1.
            
            Summary: This gene is known to suppress G-protein and
            mitogen-activated signal transduction in mammalian cells. The
            encoded protein shares significant similarity with Arabidopsis
            FUS6, which is a regulator of light-mediated signal transduction in
            plant cells. [provided by RefSeq, Mar 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.126026.1,
                                           SRR14038197.2071979.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..470
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..470
                     /product="COP9 signalosome complex subunit 1 isoform 17"
                     /note="COP9 signalosome complex subunit 1; JAB1-containing
                     signalosome subunit 1"
                     /calculated_mol_wt=53113
     Region          107..288
                     /region_name="RPN7"
                     /note="26S proteasome subunit RPN7; pfam10602"
                     /db_xref="CDD:431387"
     Region          303..407
                     /region_name="PCI"
                     /note="PCI domain; pfam01399"
                     /db_xref="CDD:396121"
     CDS             1..470
                     /gene="GPS1"
                     /gene_synonym="COPS1; CSN1; SGN1"
                     /coded_by="NM_001394773.1:168..1580"
                     /note="isoform 17 is encoded by transcript variant 24"
                     /db_xref="GeneID:2873"
                     /db_xref="HGNC:HGNC:4549"
                     /db_xref="MIM:601934"
ORIGIN      
        1 mqidvdpqed pqnapdvnyv venpsldleq yaasysglmr ierlqfiadh cptlrvealk
       61 malsfvqrtf nvdmyeeihr klseatrelq napdaipesg veppaldtaw veatrkkall
      121 klekldtdlk nykgnsikes irrghddlgd hyldcgdlsn alkcysrard yctsakhvin
      181 mclnvikvsv ylqnwshvls yvskaestpe iaergerdsq tqailtklkc aaglaelaar
      241 kykqaakcll lasfdhcdfp ellspsnvai ygglcalatf drqelqrnvi ssssfklfle
      301 lepqvrdiif kfyeskyasc lkmldemkdn llldmylaph vrtlytqirn raliqyfspy
      361 vsadmhrmaa afnttvaale deltqlileg lisarvdshs kilyardvdq rsttfeksll
      421 mgkefqrrak ammlraavlr nqihvksppr egsqgeltpa nsqsrmstnm
//
LOCUS       NP_001386957             543 aa            linear   PRI 31-DEC-2022
DEFINITION  myocyte-specific enhancer factor 2A isoform 15 [Homo sapiens].
ACCESSION   NP_001386957
VERSION     NP_001386957.1
DBSOURCE    REFSEQ: accession NM_001400028.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 543)
  AUTHORS   Gao Y, Liu Y, Zheng D, Ho C, Wen D, Sun J, Huang L, Liu Y, Li Q and
            Zhang Y.
  TITLE     HDAC5-mediated Smad7 silencing through MEF2A is critical for
            fibroblast activation and hypertrophic scar formation
  JOURNAL   Int J Biol Sci 18 (15), 5724-5739 (2022)
   PUBMED   36263180
  REMARK    GeneRIF: HDAC5-mediated Smad7 silencing through MEF2A is critical
            for fibroblast activation and hypertrophic scar formation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 543)
  AUTHORS   Zhang D, Zhang G, Yu K, Zhang X and Jiang A.
  TITLE     MiRNA-615-3p Alleviates Oxidative Stress Injury of Human
            Cardiomyocytes Via PI3K/Akt Signaling by Targeting MEF2A
  JOURNAL   Anatol J Cardiol 26 (5), 373-381 (2022)
   PUBMED   35552173
  REMARK    GeneRIF: MiRNA-615-3p Alleviates Oxidative Stress Injury of Human
            Cardiomyocytes Via PI3K/Akt Signaling by Targeting MEF2A.
REFERENCE   3  (residues 1 to 543)
  AUTHORS   Cilenti F, Barbiera G, Caronni N, Iodice D, Montaldo E, Barresi S,
            Lusito E, Cuzzola V, Vittoria FM, Mezzanzanica L, Miotto P, Di
            Lucia P, Lazarevic D, Cirillo DM, Iannacone M, Genua M and Ostuni
            R.
  TITLE     A PGE2-MEF2A axis enables context-dependent control of inflammatory
            gene expression
  JOURNAL   Immunity 54 (8), 1665-1682 (2021)
   PUBMED   34129840
  REMARK    GeneRIF: A PGE2-MEF2A axis enables context-dependent control of
            inflammatory gene expression.
REFERENCE   4  (residues 1 to 543)
  AUTHORS   Xiao Q, Gan Y, Li Y, Fan L, Liu J, Lu P, Liu J, Chen A, Shu G and
            Yin G.
  TITLE     MEF2A transcriptionally upregulates the expression of ZEB2 and
            CTNNB1 in colorectal cancer to promote tumor progression
  JOURNAL   Oncogene 40 (19), 3364-3377 (2021)
   PUBMED   33863999
  REMARK    GeneRIF: MEF2A transcriptionally upregulates the expression of ZEB2
            and CTNNB1 in colorectal cancer to promote tumor progression.
REFERENCE   5  (residues 1 to 543)
  AUTHORS   Chen W, Zhang K, Yang Y, Guo Z, Wang X, Teng B, Zhao Q, Huang C and
            Qiu Z.
  TITLE     MEF2A-mediated lncRNA HCP5 Inhibits Gastric Cancer Progression via
            MiR-106b-5p/p21 Axis
  JOURNAL   Int J Biol Sci 17 (2), 623-634 (2021)
   PUBMED   33613117
  REMARK    GeneRIF: MEF2A-mediated lncRNA HCP5 Inhibits Gastric Cancer
            Progression via MiR-106b-5p/p21 Axis.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 543)
  AUTHORS   Han TH and Prywes R.
  TITLE     Regulatory role of MEF2D in serum induction of the c-jun promoter
  JOURNAL   Mol Cell Biol 15 (6), 2907-2915 (1995)
   PUBMED   7760790
REFERENCE   7  (residues 1 to 543)
  AUTHORS   Kaushal S, Schneider JW, Nadal-Ginard B and Mahdavi V.
  TITLE     Activation of the myogenic lineage by MEF2A, a factor that induces
            and cooperates with MyoD
  JOURNAL   Science 266 (5188), 1236-1240 (1994)
   PUBMED   7973707
REFERENCE   8  (residues 1 to 543)
  AUTHORS   Funk WD and Wright WE.
  TITLE     Cyclic amplification and selection of targets for multicomponent
            complexes: myogenin interacts with factors recognizing binding
            sites for basic helix-loop-helix, nuclear factor 1,
            myocyte-specific enhancer-binding factor 2, and COMP1 factor
  JOURNAL   Proc Natl Acad Sci U S A 89 (20), 9484-9488 (1992)
   PUBMED   1329097
REFERENCE   9  (residues 1 to 543)
  AUTHORS   Yu YT, Breitbart RE, Smoot LB, Lee Y, Mahdavi V and Nadal-Ginard B.
  TITLE     Human myocyte-specific enhancer factor 2 comprises a group of
            tissue-restricted MADS box transcription factors
  JOURNAL   Genes Dev 6 (9), 1783-1798 (1992)
   PUBMED   1516833
REFERENCE   10 (residues 1 to 543)
  AUTHORS   Pollock R and Treisman R.
  TITLE     Human SRF-related proteins: DNA-binding properties and potential
            regulatory targets
  JOURNAL   Genes Dev 5 (12A), 2327-2341 (1991)
   PUBMED   1748287
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC103967.4 and AC022692.11.
            
            Summary: The protein encoded by this gene is a DNA-binding
            transcription factor that activates many muscle-specific, growth
            factor-induced, and stress-induced genes. The encoded protein can
            act as a homodimer or as a heterodimer and is involved in several
            cellular processes, including muscle development, neuronal
            differentiation, cell growth control, and apoptosis. Defects in
            this gene could be a cause of autosomal dominant coronary artery
            disease 1 with myocardial infarction (ADCAD1). Several transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Jan 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2254545.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142363, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..543
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     Protein         1..543
                     /product="myocyte-specific enhancer factor 2A isoform 15"
                     /note="MADS box transcription enhancer factor 2,
                     polypeptide A (myocyte enhancer factor 2A);
                     myocyte-specific enhancer factor 2A; serum response
                     factor-like protein 1"
                     /calculated_mol_wt=58766
     Region          1..280
                     /region_name="ARG80"
                     /note="Regulator of arginine metabolism and related MADS
                     box-containing transcription factors [Transcription];
                     COG5068"
                     /db_xref="CDD:227400"
     Region          2..78
                     /region_name="MADS_MEF2_like"
                     /note="MEF2 (myocyte enhancer factor 2)-like/Type II
                     subfamily of MADS (MCM1, Agamous, Deficiens, and SRF
                     (serum response factor) box family of eukaryotic
                     transcriptional regulators. Binds DNA and exists as hetero
                     and homo-dimers. Differs from SRF-like/Type I...; cd00265"
                     /db_xref="CDD:238165"
     Site            order(2..4,6,8,13,15,19..20,23..24,26..27,30..31,33..34,
                     38)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238165"
     Site            order(21,28..29,32..33,35..36,39,44,46,48,54,56,62,65..66,
                     69,72..73)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238165"
     Site            59
                     /site_type="other"
                     /note="putative phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:238165"
     Region          141..198
                     /region_name="HJURP_C"
                     /note="Holliday junction regulator protein family
                     C-terminal repeat; pfam12347"
                     /db_xref="CDD:432495"
     CDS             1..543
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /coded_by="NM_001400028.1:346..1977"
                     /note="isoform 15 is encoded by transcript variant 28"
                     /db_xref="GeneID:4205"
                     /db_xref="HGNC:HGNC:6993"
                     /db_xref="MIM:600660"
ORIGIN      
        1 mgrkkiqitr imdernrqvt ftkrkfglmk kayelsvlcd ceialiifns snklfqyast
       61 dmdkvllkyt eynephesrt nsdivetlrk kglngcespd addyfehspl sedrfsklne
      121 dsdfifkrgp alnkkehrgc dspdpdtsyv ltphteekyk kineefdnmm rnhkiapglp
      181 pqnfsmsvtv pvtspnalsy tnpgsslvsp slaasstltd ssmlsppqtt lhrnvspgap
      241 qrppstgnag gmlsttdltv pngagsspvg ngfvnsrasp nligatgans lgkvmptksp
      301 pppgggnlgm nsrkpdlrvv ippsskgmmp plntqrisss qatqplatpv vsvttpslpp
      361 qglvysampt ayntdyslts adlsalqgfn spgmlslgqv sawqqhhlgq aalsslvagg
      421 qlsqgsnlsi ntnqnisiks epispprdrm tpsgfqqqqq qqqqqqpppp pqpqpqppqp
      481 qprqemgrsp vdslssssss ydgsdredpr gdfhspivlg rppntedres psvkrmrmda
      541 wvt
//
LOCUS       NP_001400316             455 aa            linear   PRI 01-JAN-2023
DEFINITION  carboxypeptidase M isoform a precursor [Homo sapiens].
ACCESSION   NP_001400316
VERSION     NP_001400316.1
DBSOURCE    REFSEQ: accession NM_001413387.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 455)
  AUTHORS   Guimaraes PB, da Silva RF, Hoff CC, Fernandes L, Nakaie CR, Chagas
            JR, Carmona AK, Bader M and Pesquero JB.
  TITLE     Interactions between carboxypeptidase M and kinin B1 receptor in
            endothelial cells
  JOURNAL   Inflamm Res 68 (10), 845-855 (2019)
   PUBMED   31218444
  REMARK    GeneRIF: Our work shows for the first time that the interaction
            between CPM and kinin B1 receptor alters not only B1R pharmacology,
            but also modulates enzyme expression and activity.
REFERENCE   2  (residues 1 to 455)
  AUTHORS   Chu M, Wu S, Wang W, Yu Y, Zhang M, Sang L, Tian T, Lu Y, Yuan W,
            Huang Q, Yi M, Gao Y, Xiao J, Lian Y, Zhuang X, Zhang ZF and Wu J.
  TITLE     Functional variant of the carboxypeptidase M (CPM) gene may affect
            silica-related pneumoconiosis susceptibility by its expression: a
            multistage case-control study
  JOURNAL   Occup Environ Med 76 (3), 169-174 (2019)
   PUBMED   30674606
  REMARK    GeneRIF: The rs12812500 variant of the CPM gene may increase
            silicosis susceptibility by affecting the expression of CPM, which
            may contribute to silicosis susceptibility with biological
            plausibility.
REFERENCE   3  (residues 1 to 455)
  AUTHORS   Lu D, Yao Q, Zhan C, Le-Meng Z, Liu H, Cai Y, Tu C, Li X, Zou Y and
            Zhang S.
  TITLE     MicroRNA-146a promote cell migration and invasion in human
            colorectal cancer via carboxypeptidase M/src-FAK pathway
  JOURNAL   Oncotarget 8 (14), 22674-22684 (2017)
   PUBMED   28186967
  REMARK    GeneRIF: Low CPM expression is associated with colorectal cancer.
REFERENCE   4  (residues 1 to 455)
  AUTHORS   Chu M, Ji X, Chen W, Zhang R, Sun C, Wang T, Luo C, Gong J, Zhu M,
            Fan J, Hou Z, Dai J, Jin G, Wu T, Chen F, Hu Z, Ni C and Shen H.
  TITLE     A genome-wide association study identifies susceptibility loci of
            silica-related pneumoconiosis in Han Chinese
  JOURNAL   Hum Mol Genet 23 (23), 6385-6394 (2014)
   PUBMED   24986923
REFERENCE   5  (residues 1 to 455)
  AUTHORS   Zhang X, Tan F and Skidgel RA.
  TITLE     Carboxypeptidase M is a positive allosteric modulator of the kinin
            B1 receptor
  JOURNAL   J Biol Chem 288 (46), 33226-33240 (2013)
   PUBMED   24108126
  REMARK    GeneRIF: CPM binding to extracellular loop 2 of the B1R results in
            positive allosteric modulation of B1R signaling, and disruption of
            this interaction could provide a novel therapeutic approach to
            reduce pathological B1R signaling.
REFERENCE   6  (residues 1 to 455)
  AUTHORS   de Saint-Vis B, Cupillard L, Pandrau-Garcia D, Ho S, Renard N,
            Grouard G, Duvert V, Thomas X, Galizzi JP, Banchereau J et al.
  TITLE     Distribution of carboxypeptidase M on lymphoid and myeloid cells
            parallels the other zinc-dependent proteases CD10 and CD13
  JOURNAL   Blood 86 (3), 1098-1105 (1995)
   PUBMED   7620164
REFERENCE   7  (residues 1 to 455)
  AUTHORS   McGwire GB and Skidgel RA.
  TITLE     Extracellular conversion of epidermal growth factor (EGF) to
            des-Arg53-EGF by carboxypeptidase M
  JOURNAL   J Biol Chem 270 (29), 17154-17158 (1995)
   PUBMED   7615511
REFERENCE   8  (residues 1 to 455)
  AUTHORS   Nagae A, Deddish PA, Becker RP, Anderson CH, Abe M, Tan F, Skidgel
            RA and Erdos EG.
  TITLE     Carboxypeptidase M in brain and peripheral nerves
  JOURNAL   J Neurochem 59 (6), 2201-2212 (1992)
   PUBMED   1431901
REFERENCE   9  (residues 1 to 455)
  AUTHORS   Tan F, Chan SJ, Steiner DF, Schilling JW and Skidgel RA.
  TITLE     Molecular cloning and sequencing of the cDNA for human
            membrane-bound carboxypeptidase M. Comparison with
            carboxypeptidases A, B, H, and N
  JOURNAL   J Biol Chem 264 (22), 13165-13170 (1989)
   PUBMED   2753907
REFERENCE   10 (residues 1 to 455)
  AUTHORS   Skidgel RA, Davis RM and Tan F.
  TITLE     Human carboxypeptidase M. Purification and characterization of a
            membrane-bound carboxypeptidase that cleaves peptide hormones
  JOURNAL   J Biol Chem 264 (4), 2236-2241 (1989)
   PUBMED   2914904
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025423.32.
            
            Summary: The protein encoded by this gene is a membrane-bound
            arginine/lysine carboxypeptidase. Its expression is associated with
            monocyte to macrophage differentiation. This encoded protein
            contains hydrophobic regions at the amino and carboxy termini and
            has 6 potential asparagine-linked glycosylation sites. The active
            site residues of carboxypeptidases A and B are conserved in this
            protein. Three alternatively spliced transcript variants encoding
            the same protein have been described for this gene. [provided by
            RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.37210.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..455
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q15"
     Protein         1..455
                     /product="carboxypeptidase M isoform a precursor"
                     /EC_number="3.4.17.12"
                     /note="renal carboxypeptidase; urinary carboxypeptidase B"
                     /calculated_mol_wt=49947
     sig_peptide     1..17
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1872
     Region          22..322
                     /region_name="M14_CPM"
                     /note="Peptidase M14 carboxypeptidase subfamily N/E-like;
                     Carboxypeptidase M subgroup; cd03866"
                     /db_xref="CDD:349438"
     Site            order(83,86,144,153..154,190..191,197,201,267,271,273,293)
                     /site_type="active"
                     /db_xref="CDD:349438"
     Region          326..406
                     /region_name="Peptidase_M14NE-CP-C_like"
                     /note="Peptidase associated domain: C-terminal domain of
                     M14 N/E carboxypeptidase; putative folding, regulation, or
                     interaction domain; cd11308"
                     /db_xref="CDD:200604"
     CDS             1..455
                     /gene="CPM"
                     /coded_by="NM_001413387.1:34..1401"
                     /note="isoform a precursor is encoded by transcript
                     variant 4"
                     /db_xref="GeneID:1368"
                     /db_xref="HGNC:HGNC:2311"
                     /db_xref="MIM:114860"
ORIGIN      
        1 mdfpclwlgl llplvaaldf nyhrqegmea flktvaqnys svthlhsigk svkgrnlwvl
       61 vvgrfpkehr igipefkyva nmhgdetvgr elllhlidyl vtsdgkdpei tnlinstrih
      121 impsmnpdgf eavkkpdcyy sigrenynqy dlnrnfpdaf eynnvsrqpe tvavmkwlkt
      181 etfvlsanlh ggalvasypf dngvqvslkv lvhllnaatg alysrsltpd ddvfqylaht
      241 yasrnpnmkk gdecknkmnf pngvtngysw yplqggmqdy nyiwaqcfei tlelscckyp
      301 reeklpsfwn nnkaslieyi kqvhlgvkgq vfdqngnplp nvivevqdrk hicpyrtnky
      361 geyyllllpg syiinvtvpg hdphitkvii peksqnfsal kkdillpfqg qldsipvsnp
      421 scpmiplyrn lpdhsaatkp slflflvsll hiffk
//
LOCUS       NP_001403032             775 aa            linear   PRI 13-JAN-2023
DEFINITION  hormone-sensitive lipase isoform 4 [Homo sapiens].
ACCESSION   NP_001403032 XP_005258997
VERSION     NP_001403032.1
DBSOURCE    REFSEQ: accession NM_001416103.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 775)
  AUTHORS   Zareie R, Yuzbashian E, Rahimi H, Asghari G, Zarkesh M, Hedayati M,
            Djazayery A, Movahedi A, Mirmiran P and Khalaj A.
  TITLE     Dietary fat content and adipose triglyceride lipase and
            hormone-sensitive lipase gene expressions in adults' subcutaneous
            and visceral fat tissues
  JOURNAL   Prostaglandins Leukot Essent Fatty Acids 165, 102244 (2021)
   PUBMED   33445064
  REMARK    GeneRIF: Dietary fat content and adipose triglyceride lipase and
            hormone-sensitive lipase gene expressions in adults' subcutaneous
            and visceral fat tissues.
REFERENCE   2  (residues 1 to 775)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 775)
  AUTHORS   Shajari S, Saeed A, Smith-Cortinez NF, Heegsma J, Sydor S and Faber
            KN.
  TITLE     Hormone-sensitive lipase is a retinyl ester hydrolase in human and
            rat quiescent hepatic stellate cells
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1864 (9), 1258-1267
            (2019)
   PUBMED   31150775
  REMARK    GeneRIF: HSL regulates vitamin A metabolism in quiescent hepatic
            stellate cells.
REFERENCE   4  (residues 1 to 775)
  AUTHORS   Zolotov S, Xing C, Mahamid R, Shalata A, Sheikh-Ahmad M and Garg A.
  TITLE     Homozygous LIPE mutation in siblings with multiple symmetric
            lipomatosis, partial lipodystrophy, and myopathy
  JOURNAL   Am J Med Genet A 173 (1), 190-194 (2017)
   PUBMED   27862896
  REMARK    GeneRIF: The homozygous null LIPE mutation could result in marked
            inhibition of lipolysis from some adipose tissue depots and thus
            may induce an extremely rare phenotype of MSL and partial
            lipodystrophy in adulthood associated with complications of insulin
            resistance, such as diabetes, hypertriglyceridemia and hepatic
            steatosis.
REFERENCE   5  (residues 1 to 775)
  AUTHORS   Kase ET, Feng YZ, Badin PM, Bakke SS, Laurens C, Coue M, Langin D,
            Gaster M, Thoresen GH, Rustan AC and Moro C.
  TITLE     Primary defects in lipolysis and insulin action in skeletal muscle
            cells from type 2 diabetic individuals
  JOURNAL   Biochim Biophys Acta 1851 (9), 1194-1201 (2015)
   PUBMED   25819461
  REMARK    GeneRIF: Despite reductions in intramyocellular lipolysis and HSL
            expression, overexpression of HSL did not rescue defects in insulin
            action in skeletal myotubes from obese type 2 diabetic subjects.
REFERENCE   6  (residues 1 to 775)
  AUTHORS   Anthonsen MW, Ronnstrand L, Wernstedt C, Degerman E and Holm C.
  TITLE     Identification of novel phosphorylation sites in hormone-sensitive
            lipase that are phosphorylated in response to isoproterenol and
            govern activation properties in vitro
  JOURNAL   J Biol Chem 273 (1), 215-221 (1998)
   PUBMED   9417067
REFERENCE   7  (residues 1 to 775)
  AUTHORS   Holst LS, Langin D, Mulder H, Laurell H, Grober J, Bergh A,
            Mohrenweiser HW, Edgren G and Holm C.
  TITLE     Molecular cloning, genomic organization, and expression of a
            testicular isoform of hormone-sensitive lipase
  JOURNAL   Genomics 35 (3), 441-447 (1996)
   PUBMED   8812477
REFERENCE   8  (residues 1 to 775)
  AUTHORS   Levitt RC, Liu Z, Nouri N, Meyers DA, Brandriff B and Mohrenweiser
            HM.
  TITLE     Mapping of the gene for hormone sensitive lipase (LIPE) to
            chromosome 19q13.1-->q13.2
  JOURNAL   Cytogenet Cell Genet 69 (3-4), 211-214 (1995)
   PUBMED   7698015
REFERENCE   9  (residues 1 to 775)
  AUTHORS   Langin D, Laurell H, Holst LS, Belfrage P and Holm C.
  TITLE     Gene organization and primary structure of human hormone-sensitive
            lipase: possible significance of a sequence homology with a lipase
            of Moraxella TA144, an antarctic bacterium
  JOURNAL   Proc Natl Acad Sci U S A 90 (11), 4897-4901 (1993)
   PUBMED   8506334
REFERENCE   10 (residues 1 to 775)
  AUTHORS   Holm C, Kirchgessner TG, Svenson KL, Fredrikson G, Nilsson S,
            Miller CG, Shively JE, Heinzmann C, Sparkes RS, Mohandas T et al.
  TITLE     Hormone-sensitive lipase: sequence, expression, and chromosomal
            localization to 19 cent-q13.3
  JOURNAL   Science 241 (4872), 1503-1506 (1988)
   PUBMED   3420405
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011497.6.
            On Jan 13, 2023 this sequence version replaced XP_005258997.1.
            
            Summary: The protein encoded by this gene has a long and a short
            form, generated by use of alternative translational start codons.
            The long form is expressed in steroidogenic tissues such as testis,
            where it converts cholesteryl esters to free cholesterol for
            steroid hormone production. The short form is expressed in adipose
            tissue, among others, where it hydrolyzes stored triglycerides to
            free fatty acids. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.3456628.1,
                                           SRR14372080.129124.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..775
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     Protein         1..775
                     /product="hormone-sensitive lipase isoform 4"
                     /EC_number="3.1.1.79"
                     /EC_number="3.1.1.23"
                     /note="lipase, hormone-sensitive; retinyl ester hydrolase;
                     monoacylglycerol lipase LIPE; hormone-sensitive lipase"
                     /calculated_mol_wt=83998
     CDS             1..775
                     /gene="LIPE"
                     /gene_synonym="AOMS4; FPLD6; HSL; LHS; REH"
                     /coded_by="NM_001416103.1:161..2488"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:3991"
                     /db_xref="HGNC:HGNC:6621"
                     /db_xref="MIM:151750"
ORIGIN      
        1 mdlrtmtqsl vtlaedniaf fssqgpgeta qrlsgvfagv reqalglepa lgrllgvahl
       61 fdldpetpan gyrslvhtar cclahllhks ryvasnrrsi ffrtshnlae leaylaaltq
      121 lralvyyaqr llvtnrpgvl ffegdeglta dflreyvtlh kgcfygrclg fqftpairpf
      181 lqtisiglvs fgehykrnet glsvaasslf tsgrfaidpe lrgaeferit qnldvhfwka
      241 fwnitemevl sslanmasat vrvsrllslp peafemplta dptltvtisp plahtgpgpv
      301 lvrlisydlr egqdseelss liksngqrsl elwprpqqap rsrslivhfh gggfvaqtsr
      361 shepylkswa qelgapiisi dyslapeapf praleecffa ycwaikhcal lgstgericl
      421 agdsaggnlc ftvalraaay gvrvpdgima aypatmlqpa aspsrllslm dpllplsvls
      481 kcvsayagak tedhsnsdqk algmmglvrr dtalllrdfr lgasswlnsf lelsgrksqk
      541 msepiaepmr rsvseaalaq pqgplgtdsl knltlrdlsl rgnsetssdt pemslsaetl
      601 spstpsdvnf llppedagee aeaknelspm drglgvraaf pegfhprrss qgatqmplys
      661 spivknpfms pllapdsmlk slppvhivac aldpmlddsv mlarrlrnlg qpvtlrvved
      721 lphgfltlaa lcretrqaae lcverirlvl tppagagpsg etgaagvdgg cggrh
//
LOCUS       NP_001340205             178 aa            linear   PRI 22-JAN-2023
DEFINITION  CYFIP-related Rac1 interactor B isoform 2 [Homo sapiens].
ACCESSION   NP_001340205 XP_011515427
VERSION     NP_001340205.1
DBSOURCE    REFSEQ: accession NM_001353276.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 178)
  AUTHORS   Xi Y, Zhang T, Sun W, Liang R, Ganesh S and Chen H.
  TITLE     GOLM1 and FAM49B: Potential Biomarkers in HNSCC Based on
            Bioinformatics and Immunohistochemical Analysis
  JOURNAL   Int J Mol Sci 23 (23), 15433 (2022)
   PUBMED   36499755
  REMARK    GeneRIF: GOLM1 and FAM49B: Potential Biomarkers in HNSCC Based on
            Bioinformatics and Immunohistochemical Analysis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 178)
  AUTHORS   Yelland T, Le AH, Nikolaou S, Insall R, Machesky L and Ismail S.
  TITLE     Structural Basis of CYRI-B Direct Competition with Scar/WAVE
            Complex for Rac1
  JOURNAL   Structure 29 (3), 226-237 (2021)
   PUBMED   33217330
  REMARK    GeneRIF: Structural Basis of CYRI-B Direct Competition with
            Scar/WAVE Complex for Rac1.
REFERENCE   3  (residues 1 to 178)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 178)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 178)
  AUTHORS   Zhang Y, Du P, Li Y, Zhu Q, Song X, Liu S, Hao J, Liu L, Liu F, Hu
            Y, Jiang L, Ma Q, Lu W and Liu Y.
  TITLE     TASP1 Promotes Gallbladder Cancer Cell Proliferation and Metastasis
            by Up-regulating FAM49B via PI3K/AKT Pathway
  JOURNAL   Int J Biol Sci 16 (5), 739-751 (2020)
   PUBMED   32071545
  REMARK    GeneRIF: TASP1 Promotes Gallbladder Cancer Cell Proliferation and
            Metastasis by Up-regulating FAM49B via PI3K/AKT Pathway.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 178)
  AUTHORS   Nalls MA, Couper DJ, Tanaka T, van Rooij FJ, Chen MH, Smith AV,
            Toniolo D, Zakai NA, Yang Q, Greinacher A, Wood AR, Garcia M,
            Gasparini P, Liu Y, Lumley T, Folsom AR, Reiner AP, Gieger C, Lagou
            V, Felix JF, Volzke H, Gouskova NA, Biffi A, Doring A, Volker U,
            Chong S, Wiggins KL, Rendon A, Dehghan A, Moore M, Taylor K, Wilson
            JG, Lettre G, Hofman A, Bis JC, Pirastu N, Fox CS, Meisinger C,
            Sambrook J, Arepalli S, Nauck M, Prokisch H, Stephens J, Glazer NL,
            Cupples LA, Okada Y, Takahashi A, Kamatani Y, Matsuda K, Tsunoda T,
            Tanaka T, Kubo M, Nakamura Y, Yamamoto K, Kamatani N, Stumvoll M,
            Tonjes A, Prokopenko I, Illig T, Patel KV, Garner SF, Kuhnel B,
            Mangino M, Oostra BA, Thein SL, Coresh J, Wichmann HE, Menzel S,
            Lin J, Pistis G, Uitterlinden AG, Spector TD, Teumer A,
            Eiriksdottir G, Gudnason V, Bandinelli S, Frayling TM, Chakravarti
            A, van Duijn CM, Melzer D, Ouwehand WH, Levy D, Boerwinkle E,
            Singleton AB, Hernandez DG, Longo DL, Soranzo N, Witteman JC, Psaty
            BM, Ferrucci L, Harris TB, O'Donnell CJ and Ganesh SK.
  TITLE     Multiple loci are associated with white blood cell phenotypes
  JOURNAL   PLoS Genet 7 (6), e1002113 (2011)
   PUBMED   21738480
REFERENCE   7  (residues 1 to 178)
  AUTHORS   Buschow SI, van Balkom BW, Aalberts M, Heck AJ, Wauben M and
            Stoorvogel W.
  TITLE     MHC class II-associated proteins in B-cell exosomes and potential
            functional implications for exosome biogenesis
  JOURNAL   Immunol Cell Biol 88 (8), 851-856 (2010)
   PUBMED   20458337
REFERENCE   8  (residues 1 to 178)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   9  (residues 1 to 178)
  AUTHORS   Melzer D, Perry JR, Hernandez D, Corsi AM, Stevens K, Rafferty I,
            Lauretani F, Murray A, Gibbs JR, Paolisso G, Rafiq S, Simon-Sanchez
            J, Lango H, Scholz S, Weedon MN, Arepalli S, Rice N, Washecka N,
            Hurst A, Britton A, Henley W, van de Leemput J, Li R, Newman AB,
            Tranah G, Harris T, Panicker V, Dayan C, Bennett A, McCarthy MI,
            Ruokonen A, Jarvelin MR, Guralnik J, Bandinelli S, Frayling TM,
            Singleton A and Ferrucci L.
  TITLE     A genome-wide association study identifies protein quantitative
            trait loci (pQTLs)
  JOURNAL   PLoS Genet 4 (5), e1000072 (2008)
   PUBMED   18464913
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 178)
  AUTHORS   Petroziello J, Yamane A, Westendorf L, Thompson M, McDonagh C,
            Cerveny C, Law CL, Wahl A and Carter P.
  TITLE     Suppression subtractive hybridization and expression profiling
            identifies a unique set of genes overexpressed in non-small-cell
            lung cancer
  JOURNAL   Oncogene 23 (46), 7734-7745 (2004)
   PUBMED   15334068
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131568.5 and AC022973.5.
            On Jul 1, 2017 this sequence version replaced XP_011515427.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.357365.1,
                                           SRR14038195.2738237.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..178
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.21"
     Protein         1..178
                     /product="CYFIP-related Rac1 interactor B isoform 2"
                     /note="protein FAM49B; FAM49B/JPH1 fusion; MTSS1/FAM49B
                     fusion; family with sequence similarity 49 member B"
                     /calculated_mol_wt=20062
     Region          <1..174
                     /region_name="DUF1394"
                     /note="Protein of unknown function (DUF1394); pfam07159"
                     /db_xref="CDD:429323"
     CDS             1..178
                     /gene="CYRIB"
                     /gene_synonym="BM-009; CYRI; CYRI-B; FAM49B; L1"
                     /coded_by="NM_001353276.2:649..1185"
                     /note="isoform 2 is encoded by transcript variant 38"
                     /db_xref="CCDS:CCDS83327.1"
                     /db_xref="GeneID:51571"
                     /db_xref="HGNC:HGNC:25216"
                     /db_xref="MIM:617978"
ORIGIN      
        1 mtnpaiqndf syyrrtlsrm rinnvpaege nevnnelanr mslfyaeatp mlktlsdatt
       61 kfvsenknlp ienttdclst masvcrvmle tpeyrsrftn eetvsfclrv mvgviilydh
      121 vhpvgafakt skidmkgcik vlkdqppnsv egllnalryt tkhlndetts kqiksmlq
//
LOCUS       NP_001350112             429 aa            linear   PRI 07-FEB-2023
DEFINITION  charged multivesicular body protein 7 isoform 3 [Homo sapiens].
ACCESSION   NP_001350112 XP_006716478
VERSION     NP_001350112.1
DBSOURCE    REFSEQ: accession NM_001363183.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 429)
  AUTHORS   Chu Q, Wang J, Du Y, Zhou T, Shi A, Xiong J, Ji WK and Deng L.
  TITLE     Oligomeric CHMP7 mediates three-way ER junctions and
            ER-mitochondria interactions
  JOURNAL   Cell Death Differ 30 (1), 94-110 (2023)
   PUBMED   35962186
  REMARK    GeneRIF: Oligomeric CHMP7 mediates three-way ER junctions and
            ER-mitochondria interactions.
REFERENCE   2  (residues 1 to 429)
  AUTHORS   Coyne AN, Baskerville V, Zaepfel BL, Dickson DW, Rigo F, Bennett F,
            Lusk CP and Rothstein JD.
  TITLE     Nuclear accumulation of CHMP7 initiates nuclear pore complex injury
            and subsequent TDP-43 dysfunction in sporadic and familial ALS
  JOURNAL   Sci Transl Med 13 (604) (2021)
   PUBMED   34321318
  REMARK    GeneRIF: Nuclear accumulation of CHMP7 initiates nuclear pore
            complex injury and subsequent TDP-43 dysfunction in sporadic and
            familial ALS.
REFERENCE   3  (residues 1 to 429)
  AUTHORS   Gatta AT, Olmos Y, Stoten CL, Chen Q, Rosenthal PB and Carlton JG.
  TITLE     CDK1 controls CHMP7-dependent nuclear envelope reformation
  JOURNAL   Elife 10, e59999 (2021)
   PUBMED   34286694
  REMARK    GeneRIF: CDK1 controls CHMP7-dependent nuclear envelope
            reformation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 429)
  AUTHORS   Dark C, Williams C, Bellgrove MA, Hawi Z and Bryson-Richardson RJ.
  TITLE     Functional validation of CHMP7 as an ADHD risk gene
  JOURNAL   Transl Psychiatry 10 (1), 385 (2020)
   PUBMED   33159045
  REMARK    GeneRIF: Functional validation of CHMP7 as an ADHD risk gene.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 429)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (residues 1 to 429)
  AUTHORS   Row PE, Liu H, Hayes S, Welchman R, Charalabous P, Hofmann K,
            Clague MJ, Sanderson CM and Urbe S.
  TITLE     The MIT domain of UBPY constitutes a CHMP binding and endosomal
            localization signal required for efficient epidermal growth factor
            receptor degradation
  JOURNAL   J Biol Chem 282 (42), 30929-30937 (2007)
   PUBMED   17711858
  REMARK    GeneRIF: UBPY MIT domain and another ubiquitin isopeptidase, AMSH,
            reveals common interactions with CHMP1A and CHMP1B but a distinct
            selectivity of AMSH for CHMP3/VPS24, a core subunit of the
            ESCRT-III complex, and UBPY for CHMP7.
            Erratum:[J Biol Chem. 2009 Mar 20;284(12):8207]
REFERENCE   7  (residues 1 to 429)
  AUTHORS   Horii M, Shibata H, Kobayashi R, Katoh K, Yorikawa C, Yasuda J and
            Maki M.
  TITLE     CHMP7, a novel ESCRT-III-related protein, associates with CHMP4b
            and functions in the endosomal sorting pathway
  JOURNAL   Biochem J 400 (1), 23-32 (2006)
   PUBMED   16856878
  REMARK    GeneRIF: Results suggest that CHMP7, a novel CHMP4-associated
            ESCRT-III-related protein, functions in the endosomal sorting
            pathway.
REFERENCE   8  (residues 1 to 429)
  AUTHORS   Bache KG, Stuffers S, Malerod L, Slagsvold T, Raiborg C, Lechardeur
            D, Walchli S, Lukacs GL, Brech A and Stenmark H.
  TITLE     The ESCRT-III subunit hVps24 is required for degradation but not
            silencing of the epidermal growth factor receptor
  JOURNAL   Mol Biol Cell 17 (6), 2513-2523 (2006)
   PUBMED   16554368
REFERENCE   9  (residues 1 to 429)
  AUTHORS   Azmi I, Davies B, Dimaano C, Payne J, Eckert D, Babst M and
            Katzmann DJ.
  TITLE     Recycling of ESCRTs by the AAA-ATPase Vps4 is regulated by a
            conserved VSL region in Vta1
  JOURNAL   J Cell Biol 172 (5), 705-717 (2006)
   PUBMED   16505166
REFERENCE   10 (residues 1 to 429)
  AUTHORS   Lippincott-Schwartz J, Roberts TH and Hirschberg K.
  TITLE     Secretory protein trafficking and organelle dynamics in living
            cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB140277.1, BC042050.1, AL515436.3 and AL833843.1.
            On May 11, 2018 this sequence version replaced XP_006716478.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.37674.1,
                                           SRR1660809.242947.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..429
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     Protein         1..429
                     /product="charged multivesicular body protein 7 isoform 3"
                     /note="chromatin-modifying protein 7; CHMP family, member
                     7"
                     /calculated_mol_wt=48619
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUX9.1)"
     Site            232
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8R1T1; propagated from
                     UniProtKB/Swiss-Prot (Q8WUX9.1)"
     Region          243..>353
                     /region_name="Snf7"
                     /note="cl21588"
                     /db_xref="CDD:451321"
     CDS             1..429
                     /gene="CHMP7"
                     /coded_by="NM_001363183.2:56..1345"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:91782"
                     /db_xref="HGNC:HGNC:28439"
                     /db_xref="MIM:611130"
ORIGIN      
        1 mwspereaea paggdpagll ppeweedeer msflfsafkr srevnstdwd skmgfwaplv
       61 lshsrrqgvv rlrlrdlqea fqrkgsvplg latvlqdllr rgelqresdf masvdsswis
      121 wgvgvfllkp lkwtlsnmlg dnkvpaeevl vavellkeka eevyrlyqns plsshpvval
      181 selstlcans cpdertfylv llqlqkekrv tvleqngeki vkfargprak vspvndvdvg
      241 vyqlmqseql lsrkveslsq eaerckeear racragkkql alrslkakqr tekriealha
      301 kldtvqgild riyasqtdqm vfnayqagvg alklsmkdvt vekaeslvdq iqeiltvknw
      361 rrnwtssfri ppknlwiclt tpaigilpta cltlgsqmln lklnlrncpy qrevwsqavn
      421 lqkgnwnrl
//
LOCUS       NP_000880                798 aa            linear   PRI 12-FEB-2023
DEFINITION  integrin beta-7 isoform a precursor [Homo sapiens].
ACCESSION   NP_000880
VERSION     NP_000880.1
DBSOURCE    REFSEQ: accession NM_000889.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 798)
  AUTHORS   Roy Choudhury S, Byrum SD, Alkam D, Ashby C, Zhan F, Tackett AJ and
            Van Rhee F.
  TITLE     Expression of integrin beta-7 is epigenetically enhanced in
            multiple myeloma subgroups with high-risk cytogenetics
  JOURNAL   Clin Epigenetics 15 (1), 18 (2023)
   PUBMED   36737807
  REMARK    GeneRIF: Expression of integrin beta-7 is epigenetically enhanced
            in multiple myeloma subgroups with high-risk cytogenetics.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 798)
  AUTHORS   Xu T, Liu J, Xia Y, Wang Z, Li X and Gao Q.
  TITLE     Integrated analysis reveals the participation of IL4I1, ITGB7, and
            FUT7 in reshaping the TNBC immune microenvironment by targeting
            glycolysis
  JOURNAL   Ann Med 53 (1), 916-928 (2021)
   PUBMED   34134578
  REMARK    GeneRIF: Integrated analysis reveals the participation of IL4I1,
            ITGB7, and FUT7 in reshaping the TNBC immune microenvironment by
            targeting glycolysis.
REFERENCE   3  (residues 1 to 798)
  AUTHORS   Hosen N, Yoshihara S, Takamatsu H, Ri M, Nagata Y, Kosugi H,
            Shimomura Y, Hanamura I, Fuji S, Minauchi K, Kuroda J, Suzuki R,
            Nishimura N, Uoshima N, Nakamae H, Kawano Y, Mizuno I, Gomyo H,
            Suzuki K, Ozaki S, Nakamura S, Imai Y, Kizaki M, Negoro E, Handa H
            and Iida S.
  TITLE     Expression of activated integrin beta7 in multiple myeloma patients
  JOURNAL   Int J Hematol 114 (1), 3-7 (2021)
   PUBMED   33999338
  REMARK    GeneRIF: Expression of activated integrin beta7 in multiple myeloma
            patients.
REFERENCE   4  (residues 1 to 798)
  AUTHORS   Mora JR, Bono MR, Manjunath N, Weninger W, Cavanagh LL, Rosemblatt
            M and Von Andrian UH.
  TITLE     Selective imprinting of gut-homing T cells by Peyer's patch
            dendritic cells
  JOURNAL   Nature 424 (6944), 88-93 (2003)
   PUBMED   12840763
REFERENCE   5  (residues 1 to 798)
  AUTHORS   Erle DJ, Brown T, Christian D and Aris R.
  TITLE     Lung epithelial lining fluid T cell subsets defined by distinct
            patterns of beta 7 and beta 1 integrin expression
  JOURNAL   Am J Respir Cell Mol Biol 10 (3), 237-244 (1994)
   PUBMED   7509610
REFERENCE   6  (residues 1 to 798)
  AUTHORS   Jiang WM, Jenkins D, Yuan Q, Leung E, Choo KH, Watson JD and
            Krissansen GW.
  TITLE     The gene organization of the human beta 7 subunit, the common beta
            subunit of the leukocyte integrins HML-1 and LPAM-1
  JOURNAL   Int Immunol 4 (9), 1031-1040 (1992)
   PUBMED   1382574
REFERENCE   7  (residues 1 to 798)
  AUTHORS   Ruegg C, Postigo AA, Sikorski EE, Butcher EC, Pytela R and Erle DJ.
  TITLE     Role of integrin alpha 4 beta 7/alpha 4 beta P in lymphocyte
            adherence to fibronectin and VCAM-1 and in homotypic cell
            clustering
  JOURNAL   J Cell Biol 117 (1), 179-189 (1992)
   PUBMED   1372909
REFERENCE   8  (residues 1 to 798)
  AUTHORS   Parker CM, Cepek KL, Russell GJ, Shaw SK, Posnett DN, Schwarting R
            and Brenner MB.
  TITLE     A family of beta 7 integrins on human mucosal lymphocytes
  JOURNAL   Proc Natl Acad Sci U S A 89 (5), 1924-1928 (1992)
   PUBMED   1542691
REFERENCE   9  (residues 1 to 798)
  AUTHORS   Baker E, Sutherland GR, Jiang WM, Yuan Q, Leung E, Watson JD and
            Krissansen GW.
  TITLE     Mapping of the human integrin beta 7 gene (ITG beta 7) to 12q13.13
            by non-isotopic in situ hybridization
  JOURNAL   Mamm Genome 2 (4), 272-273 (1992)
   PUBMED   1543919
REFERENCE   10 (residues 1 to 798)
  AUTHORS   Erle DJ, Ruegg C, Sheppard D and Pytela R.
  TITLE     Complete amino acid sequence of an integrin beta subunit (beta 7)
            identified in leukocytes
  JOURNAL   J Biol Chem 266 (17), 11009-11016 (1991)
   PUBMED   2040616
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC296007.1 and S80335.1.
            
            Summary: This gene encodes a protein that is a member of the
            integrin superfamily. Members of this family are adhesion receptors
            that function in signaling from the extracellular matrix to the
            cell. Integrins are heterodimeric integral membrane proteins
            composed of an alpha chain and a beta chain. The encoded protein
            forms dimers with an alpha4 chain or an alphaE chain and plays a
            role in leukocyte adhesion. Dimerization with alpha4 forms a homing
            receptor for migration of lymphocytes to the intestinal mucosa and
            Peyer's patches. Dimerization with alphaE permits binding to the
            ligand epithelial cadherin, a calcium-dependent adhesion molecule.
            Alternate splicing results in multiple transcript variants.
            Additional alternatively spliced transcript variants of this gene
            have been described, but their full-length nature is not known.
            [provided by RefSeq, Sep 2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Variants 1 and 3-8 all encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: S80335.1, SRR1163655.140810.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000267082.10/ ENSP00000267082.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..798
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     Protein         1..798
                     /product="integrin beta-7 isoform a precursor"
                     /note="integrin beta-7; integrin beta 7 subunit; gut
                     homing receptor beta subunit"
                     /calculated_mol_wt=84881
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2041
     mat_peptide     20..798
                     /product="Integrin beta-7. /id=PRO_0000016352"
                     /note="propagated from UniProtKB/Swiss-Prot (P26010.1)"
                     /calculated_mol_wt=84881
     Region          50..476
                     /region_name="INB"
                     /note="Integrin beta subunits (N-terminal portion of
                     extracellular region); smart00187"
                     /db_xref="CDD:197563"
     Site            68
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P26010.1)"
     Region          98..124
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P26010.1)"
     Site            279
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P26010.1)"
     Site            434
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P26010.1)"
     Region          476..506
                     /region_name="I-EGF_1"
                     /note="Integrin beta epidermal growth factor like domain
                     1; pfam18372"
                     /db_xref="CDD:436446"
     Site            477
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P26010.1)"
     Region          478..640
                     /region_name="Cysteine-rich tandem repeats"
                     /note="propagated from UniProtKB/Swiss-Prot (P26010.1)"
     Site            531
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P26010.1)"
     Site            590
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P26010.1)"
     Region          645..717
                     /region_name="Integrin_B_tail"
                     /note="Integrin beta tail domain; pfam07965"
                     /db_xref="CDD:429757"
     Site            665
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P26010.1)"
     Site            674
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P26010.1)"
     Site            724..746
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P26010.1)"
     Region          747..790
                     /region_name="Integrin_b_cyt"
                     /note="Integrin beta cytoplasmic domain; pfam08725"
                     /db_xref="CDD:430176"
     Site            778
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by Tyr-kinases.
                     /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (P26010.1)"
     CDS             1..798
                     /gene="ITGB7"
                     /coded_by="NM_000889.3:177..2573"
                     /note="isoform a precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS8849.1"
                     /db_xref="GeneID:3695"
                     /db_xref="HGNC:HGNC:6162"
                     /db_xref="MIM:147559"
ORIGIN      
        1 mvalpmvlvl llvlsrgese ldakipstgd atewrnphls mlgscqpaps cqkcilshps
       61 cawckqlnft asgeaearrc arreellarg cpleeleepr gqqevlqdqp lsqgargega
      121 tqlapqrvrv tlrpgepqql qvrflraegy pvdlyylmdl sysmkddler vrqlghallv
      181 rlqevthsvr igfgsfvdkt vlpfvstvps klrhpcptrl ercqspfsfh hvlsltgdaq
      241 aferevgrqs vsgnldspeg gfdailqaal cqeqigwrnv srllvftsdd tfhtagdgkl
      301 ggifmpsdgh chldsnglys rstefdypsv gqvaqalsaa niqpifavts aalpvyqels
      361 klipksavge lsedssnvvq limdaynsls stvtlehssl ppgvhisyes qcegpekreg
      421 kaedrgqcnh vrinqtvtfw vslqathclp ephllrlral gfseelivel htlcdcncsd
      481 tqpqaphcsd gqghlqcgvc scapgrlgrl cecsvaelss pdlesgcrap ngtgplcsgk
      541 ghcqcgrcsc sgqssghlce cddascerhe gilcggfgrc qcgvchchan rtgracecsg
      601 dmdscispeg glcsghgrck cnrcqcldgy ygalcdqcpg cktpcerhrd caecgafrtg
      661 platncstac ahtnvtlala pilddgwcke rtldnqlfff lveddargtv vlrvrpqekg
      721 adhtqaivlg cvggivavgl glvlayrlsv eiydrreysr fekeqqqlnw kqdsnplyks
      781 aitttinprf qeadsptl
//
LOCUS       NP_001014795             452 aa            linear   PRI 26-FEB-2023
DEFINITION  integrin-linked protein kinase isoform 1 [Homo sapiens].
ACCESSION   NP_001014795
VERSION     NP_001014795.1
DBSOURCE    REFSEQ: accession NM_001014795.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 452)
  AUTHORS   Wang Y, Zhang H, Wu S, Wan W, Kang X, Gao B, Shi H, Zhao S, Niu L
            and Zou R.
  TITLE     Substrate Stiffness Regulates the Proliferation and Apoptosis of
            Periodontal Ligament Cells through Integrin-Linked Kinase ILK
  JOURNAL   ACS Biomater Sci Eng 9 (2), 662-670 (2023)
   PUBMED   36732940
  REMARK    GeneRIF: Substrate Stiffness Regulates the Proliferation and
            Apoptosis of Periodontal Ligament Cells through Integrin-Linked
            Kinase ILK.
REFERENCE   2  (residues 1 to 452)
  AUTHORS   Petrou IG, Nikou S, Madduri S, Nifora M, Bravou V and Kalbermatten
            DF.
  TITLE     The Role of Hippo Signaling Pathway and ILK in the Pathophysiology
            of Human Hypertrophic Scars and Keloids: An Immunohistochemical
            Investigation
  JOURNAL   Cells 11 (21), 3426 (2022)
   PUBMED   36359821
  REMARK    GeneRIF: The Role of Hippo Signaling Pathway and ILK in the
            Pathophysiology of Human Hypertrophic Scars and Keloids: An
            Immunohistochemical Investigation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 452)
  AUTHORS   Kang N, Xie X, Zhou X, Wang Y, Chen S, Qi R, Liu T and Jiang H.
  TITLE     Identification and validation of EMT-immune-related prognostic
            biomarkers CDKN2A, CMTM8 and ILK in colon cancer
  JOURNAL   BMC Gastroenterol 22 (1), 190 (2022)
   PUBMED   35429970
  REMARK    GeneRIF: Identification and validation of EMT-immune-related
            prognostic biomarkers CDKN2A, CMTM8 and ILK in colon cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 452)
  AUTHORS   Campillo S, Bohorquez L, Gutierrez-Calabres E, Garcia-Ayuso D,
            Miguel V, Griera M, Calle Y, de Frutos S, Rodriguez-Puyol M,
            Rodriguez-Puyol D and Calleros L.
  TITLE     Indoxyl sulfate- and P-cresol-induced monocyte adhesion and
            migration is mediated by integrin-linked kinase-dependent podosome
            formation
  JOURNAL   Exp Mol Med 54 (3), 226-238 (2022)
   PUBMED   35246616
  REMARK    GeneRIF: Indoxyl sulfate- and P-cresol-induced monocyte adhesion
            and migration is mediated by integrin-linked kinase-dependent
            podosome formation.
REFERENCE   5  (residues 1 to 452)
  AUTHORS   Hannigan GE, McDonald PC, Walsh MP and Dedhar S.
  TITLE     Integrin-linked kinase: not so 'pseudo' after all
  JOURNAL   Oncogene 30 (43), 4375-4385 (2011)
   PUBMED   21602880
  REMARK    Review article
REFERENCE   6  (residues 1 to 452)
  AUTHORS   Melchior C, Kreis S, Janji B and Kieffer N.
  TITLE     Promoter characterization and genomic organization of the gene
            encoding integrin-linked kinase 1
  JOURNAL   Biochim Biophys Acta 1575 (1-3), 117-122 (2002)
   PUBMED   12020826
REFERENCE   7  (residues 1 to 452)
  AUTHORS   Delcommenne M, Tan C, Gray V, Rue L, Woodgett J and Dedhar S.
  TITLE     Phosphoinositide-3-OH kinase-dependent regulation of glycogen
            synthase kinase 3 and protein kinase B/AKT by the integrin-linked
            kinase
  JOURNAL   Proc Natl Acad Sci U S A 95 (19), 11211-11216 (1998)
   PUBMED   9736715
REFERENCE   8  (residues 1 to 452)
  AUTHORS   Li F, Liu J, Mayne R and Wu C.
  TITLE     Identification and characterization of a mouse protein kinase that
            is highly homologous to human integrin-linked kinase
  JOURNAL   Biochim Biophys Acta 1358 (3), 215-220 (1997)
   PUBMED   9366252
REFERENCE   9  (residues 1 to 452)
  AUTHORS   Hannigan GE, Bayani J, Weksberg R, Beatty B, Pandita A, Dedhar S
            and Squire J.
  TITLE     Mapping of the gene encoding the integrin-linked kinase, ILK, to
            human chromosome 11p15.5-p15.4
  JOURNAL   Genomics 42 (1), 177-179 (1997)
   PUBMED   9177792
REFERENCE   10 (residues 1 to 452)
  AUTHORS   Hannigan GE, Leung-Hagesteijn C, Fitz-Gibbon L, Coppolino MG,
            Radeva G, Filmus J, Bell JC and Dedhar S.
  TITLE     Regulation of cell adhesion and anchorage-dependent growth by a new
            beta 1-integrin-linked protein kinase
  JOURNAL   Nature 379 (6560), 91-96 (1996)
   PUBMED   8538749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091564.12, DC379936.1,
            CR749220.1, U40282.1 and HY257434.1.
            
            Summary: This gene encodes a protein with a kinase-like domain and
            four ankyrin-like repeats. The encoded protein associates at the
            cell membrane with the cytoplasmic domain of beta integrins, where
            it regulates integrin-mediated signal transduction. Activity of
            this protein is important in the epithelial to mesenchymal
            transition, and over-expression of this gene is implicated in tumor
            growth and metastasis. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jun 2013].
            
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1. Variants 1, 2, and 3 encode the same isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EU794625.1, SRR1163658.315320.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..452
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..452
                     /product="integrin-linked protein kinase isoform 1"
                     /EC_number="2.7.11.1"
                     /note="integrin-linked kinase-2; 59 kDa
                     serine/threonine-protein kinase; integrin-linked protein
                     kinase; epididymis secretory protein Li 28;
                     beta-integrin-linked kinase"
                     /calculated_mol_wt=51288
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q13418.2)"
     Region          2..30
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13418.2)"
     Region          31..63
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13418.2)"
     Region          33..139
                     /region_name="Interaction with LIMS1.
                     /evidence=ECO:0000269|PubMed:12167643"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13418.2)"
     Region          130..174
                     /region_name="ANK 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13418.2)"
     Region          180..212
                     /region_name="PH-like, mediates interaction with TGFB1I1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13418.2)"
     Site            186
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q13418.2)"
     Site            426
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O55222; propagated from
                     UniProtKB/Swiss-Prot (Q13418.2)"
     CDS             1..452
                     /gene="ILK"
                     /gene_synonym="HEL-S-28; ILK-1; ILK-2; P59; p59ILK"
                     /coded_by="NM_001014795.3:499..1857"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS7768.1"
                     /db_xref="GeneID:3611"
                     /db_xref="HGNC:HGNC:6040"
                     /db_xref="MIM:602366"
ORIGIN      
        1 mddiftqcre gnavavrlwl dntendlnqg ddhgfsplhw acregrsavv emlimrgari
       61 nvmnrgddtp lhlaashghr divqkllqyk adinavnehg nvplhyacfw gqdqvaedlv
      121 angalvsicn kygempvdka kaplrellre raekmgqnln ripykdtfwk gttrtrprng
      181 tlnkhsgidf kqlnfltkln enhsgelwkg rwqgndivvk vlkvrdwstr ksrdfneecp
      241 rlrifshpnv lpvlgacqsp paphptlith wmpygslynv lhegtnfvvd qsqavkfald
      301 margmaflht lepliprhal nsrsvmided mtarismadv kfsfqcpgrm yapawvapea
      361 lqkkpedtnr rsadmwsfav llwelvtrev pfadlsnmei gmkvaleglr ptippgisph
      421 vcklmkicmn edpakrpkfd mivpilekmq dk
//
LOCUS       NP_001177397             228 aa            linear   PRI 26-FEB-2023
DEFINITION  glial cell line-derived neurotrophic factor isoform 3 [Homo
            sapiens].
ACCESSION   NP_001177397
VERSION     NP_001177397.1
DBSOURCE    REFSEQ: accession NM_001190468.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 228)
  AUTHORS   Marks BA, Pipia IM, Mukai C, Horibata S, Rice EJ, Danko CG and
            Coonrod SA.
  TITLE     GDNF-RET signaling and EGR1 form a positive feedback loop that
            promotes tamoxifen resistance via cyclin D1
  JOURNAL   BMC Cancer 23 (1), 138 (2023)
   PUBMED   36765275
  REMARK    GeneRIF: GDNF-RET signaling and EGR1 form a positive feedback loop
            that promotes tamoxifen resistance via cyclin D1.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 228)
  AUTHORS   Wang J, Gu S and Qin B.
  TITLE     Overexpression of microRNA-211 in Functional Dyspepsia via
            Downregulation of the Glial Cell Line-Derived Neurotrophic Factor
            (GDNF) by Increasing Phosphorylation of p38 MAPK Pathway
  JOURNAL   Can J Gastroenterol Hepatol 2022, 9394381 (2022)
   PUBMED   36569394
  REMARK    GeneRIF: Overexpression of microRNA-211 in Functional Dyspepsia via
            Downregulation of the Glial Cell Line-Derived Neurotrophic Factor
            (GDNF) by Increasing Phosphorylation of p38 MAPK Pathway.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 228)
  AUTHORS   Wang M, Han X, Zha W, Wang X, Liu L, Li Z, Shi Y, Kan X, Wang G,
            Gao D and Zhang B.
  TITLE     GDNF Promotes Astrocyte Abnormal Proliferation and Migration
            Through the GFRalpha1/RET/MAPK/pCREB/LOXL2 Signaling Axis
  JOURNAL   Mol Neurobiol 59 (10), 6321-6340 (2022)
   PUBMED   35925441
  REMARK    GeneRIF: GDNF Promotes Astrocyte Abnormal Proliferation and
            Migration Through the GFRalpha1/RET/MAPK/pCREB/LOXL2 Signaling
            Axis.
REFERENCE   4  (residues 1 to 228)
  AUTHORS   Revishchin AV, Parshina VV and Pavlova GV.
  TITLE     [The role of glial cell line-derived neurotrophic factor isoforms
            in human glial tumors]
  JOURNAL   Zh Vopr Neirokhir Im N N Burdenko 86 (6), 106-112 (2022)
   PUBMED   36534631
  REMARK    GeneRIF: [The role of glial cell line-derived neurotrophic factor
            isoforms in human glial tumors].
            Review article
REFERENCE   5  (residues 1 to 228)
  AUTHORS   Airavaara M, Pletnikova O, Doyle ME, Zhang YE, Troncoso JC and Liu
            QR.
  TITLE     Identification of novel GDNF isoforms and cis-antisense GDNFOS gene
            and their regulation in human middle temporal gyrus of Alzheimer
            disease
  JOURNAL   J Biol Chem 286 (52), 45093-45102 (2011)
   PUBMED   22081608
  REMARK    GeneRIF: Identification of novel GDNF isoforms and cis-antisense
            GDNFOS gene and their regulation in human middle temporal gyrus of
            Alzheimer disease
REFERENCE   6  (residues 1 to 228)
  AUTHORS   Schindelhauer D, Schuffenhauer S, Gasser T, Steinkasserer A and
            Meitinger T.
  TITLE     The gene coding for glial cell line derived neurotrophic factor
            (GDNF) maps to chromosome 5p12-p13.1
  JOURNAL   Genomics 28 (3), 605-607 (1995)
   PUBMED   7490108
REFERENCE   7  (residues 1 to 228)
  AUTHORS   Oppenheim RW, Houenou LJ, Johnson JE, Lin LF, Li L, Lo AC, Newsome
            AL, Prevette DM and Wang S.
  TITLE     Developing motor neurons rescued from programmed and
            axotomy-induced cell death by GDNF
  JOURNAL   Nature 373 (6512), 344-346 (1995)
   PUBMED   7830769
REFERENCE   8  (residues 1 to 228)
  AUTHORS   Tomac A, Lindqvist E, Lin LF, Ogren SO, Young D, Hoffer BJ and
            Olson L.
  TITLE     Protection and repair of the nigrostriatal dopaminergic system by
            GDNF in vivo
  JOURNAL   Nature 373 (6512), 335-339 (1995)
   PUBMED   7830766
REFERENCE   9  (residues 1 to 228)
  AUTHORS   Schaar DG, Sieber BA, Sherwood AC, Dean D, Mendoza G, Ramakrishnan
            L, Dreyfus CF and Black IB.
  TITLE     Multiple astrocyte transcripts encode nigral trophic factors in rat
            and human
  JOURNAL   Exp Neurol 130 (2), 387-393 (1994)
   PUBMED   7867768
REFERENCE   10 (residues 1 to 228)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301612
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ001897.1 and AC008869.5.
            
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate each subunit of the
            disulfide-linked homodimer. The recombinant form of this protein, a
            highly conserved neurotrophic factor, was shown to promote the
            survival and differentiation of dopaminergic neurons in culture,
            and was able to prevent apoptosis of motor neurons induced by
            axotomy. This protein is a ligand for the product of the RET
            (rearranged during transfection) protooncogene. Mutations in this
            gene may be associated with Hirschsprung disease and Tourette
            syndrome. This gene encodes multiple protein isoforms that may
            undergo similar proteolytic processing. [provided by RefSeq, Aug
            2016].
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (3).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ001897.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1966682,
                                           SAMEA1968540 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..228
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     Protein         1..228
                     /product="glial cell line-derived neurotrophic factor
                     isoform 3"
                     /note="astrocyte-derived trophic factor; glial cell
                     line-derived neurotrophic factor"
                     /calculated_mol_wt=25335
     Region          132..227
                     /region_name="TGF_beta_GDNF"
                     /note="transforming growth factor beta (TGF-beta) like
                     domain found in glial cell line-derived neurotrophic
                     factor (GDNF) and similar proteins; cd19380"
                     /db_xref="CDD:381650"
     Site            order(140,142,146..149,159..163,172..174,176..177,
                     179..180,192..198,201,218..220)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:381650"
     Site            order(141,154..156,158,203..208,210..214,216)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:381650"
     CDS             1..228
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /coded_by="NM_001190468.1:170..856"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS54845.1"
                     /db_xref="GeneID:2668"
                     /db_xref="HGNC:HGNC:4232"
                     /db_xref="MIM:600837"
ORIGIN      
        1 mqslpnsnga aagrdfkmkl wdvvavclvl lhtasafplp agkrppeapa edrslgrrra
       61 pfalssdsnm pedypdqfdd vmdfiqatik rlkrspdkqm avlprrernr qaaaanpens
      121 rgkgrrgqrg knrgcvltai hlnvtdlglg yetkeelifr ycsgscdaae ttydkilknl
      181 srnrrlvsdk vgqaccrpia fdddlsfldd nlvyhilrkh sakrcgci
//
LOCUS       NP_001353547             467 aa            linear   PRI 12-MAR-2023
DEFINITION  regulator of G-protein signaling 14 isoform 3 [Homo sapiens].
ACCESSION   NP_001353547 XP_005265852
VERSION     NP_001353547.1
DBSOURCE    REFSEQ: accession NM_001366618.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 467)
  AUTHORS   Montanez-Miranda C, Bramlett SN and Hepler JR.
  TITLE     RGS14 expression in CA2 hippocampus, amygdala, and basal ganglia:
            Implications for human brain physiology and disease
  JOURNAL   Hippocampus 33 (3), 166-181 (2023)
   PUBMED   36541898
  REMARK    GeneRIF: RGS14 expression in CA2 hippocampus, amygdala, and basal
            ganglia: Implications for human brain physiology and disease.
            Review article
REFERENCE   2  (residues 1 to 467)
  AUTHORS   Friedman PA, Sneddon WB, Mamonova T, Montanez-Miranda C, Ramineni
            S, Harbin NH, Squires KE, Gefter JV, Magyar CE, Emlet DR and Hepler
            JR.
  TITLE     RGS14 regulates PTH- and FGF23-sensitive NPT2A-mediated renal
            phosphate uptake via binding to the NHERF1 scaffolding protein
  JOURNAL   J Biol Chem 298 (5), 101836 (2022)
   PUBMED   35307350
  REMARK    GeneRIF: RGS14 regulates PTH- and FGF23-sensitive NPT2A-mediated
            renal phosphate uptake via binding to the NHERF1 scaffolding
            protein.
REFERENCE   3  (residues 1 to 467)
  AUTHORS   Guan F, Han W, Ni T, Zhao L, Li X, Zhang B and Zhang T.
  TITLE     Genetic Polymorphisms of RGS14 and Renal Stone Disease
  JOURNAL   Arch Med Res 52 (3), 332-338 (2021)
   PUBMED   33309307
  REMARK    GeneRIF: Genetic Polymorphisms of RGS14 and Renal Stone Disease.
REFERENCE   4  (residues 1 to 467)
  AUTHORS   Squires KE, Gerber KJ, Tillman MC, Lustberg DJ, Montanez-Miranda C,
            Zhao M, Ramineni S, Scharer CD, Saha RN, Shu FJ, Schroeder JP,
            Ortlund EA, Weinshenker D, Dudek SM and Hepler JR.
  TITLE     Human genetic variants disrupt RGS14 nuclear shuttling and
            regulation of LTP in hippocampal neurons
  JOURNAL   J Biol Chem 296, 100024 (2021)
   PUBMED   33410399
  REMARK    GeneRIF: Human genetic variants disrupt RGS14 nuclear shuttling and
            regulation of LTP in hippocampal neurons.
REFERENCE   5  (residues 1 to 467)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 467)
  AUTHORS   Sierra DA, Gilbert DJ, Householder D, Grishin NV, Yu K, Ukidwe P,
            Barker SA, He W, Wensel TG, Otero G, Brown G, Copeland NG, Jenkins
            NA and Wilkie TM.
  TITLE     Evolution of the regulators of G-protein signaling multigene family
            in mouse and human
  JOURNAL   Genomics 79 (2), 177-185 (2002)
   PUBMED   11829488
REFERENCE   7  (residues 1 to 467)
  AUTHORS   Kimple RJ, De Vries L, Tronchere H, Behe CI, Morris RA, Gist
            Farquhar M and Siderovski DP.
  TITLE     RGS12 and RGS14 GoLoco motifs are G alpha(i) interaction sites with
            guanine nucleotide dissociation inhibitor Activity
  JOURNAL   J Biol Chem 276 (31), 29275-29281 (2001)
   PUBMED   11387333
REFERENCE   8  (residues 1 to 467)
  AUTHORS   Cho H, Kozasa T, Takekoshi K, De Gunzburg J and Kehrl JH.
  TITLE     RGS14, a GTPase-activating protein for Gialpha, attenuates Gialpha-
            and G13alpha-mediated signaling pathways
  JOURNAL   Mol Pharmacol 58 (3), 569-576 (2000)
   PUBMED   10953050
REFERENCE   9  (residues 1 to 467)
  AUTHORS   Traver S, Bidot C, Spassky N, Baltauss T, De Tand MF, Thomas JL,
            Zalc B, Janoueix-Lerosey I and Gunzburg JD.
  TITLE     RGS14 is a novel Rap effector that preferentially regulates the
            GTPase activity of galphao
  JOURNAL   Biochem J 350 Pt 1 (Pt 1), 19-29 (2000)
   PUBMED   10926822
REFERENCE   10 (residues 1 to 467)
  AUTHORS   Snow BE, Antonio L, Suggs S, Gutstein HB and Siderovski DP.
  TITLE     Molecular cloning and expression analysis of rat Rgs12 and Rgs14
  JOURNAL   Biochem Biophys Res Commun 233 (3), 770-777 (1997)
   PUBMED   9168931
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC146507.2.
            On Oct 13, 2018 this sequence version replaced XP_005265852.1.
            
            Summary: This gene encodes a member of the regulator of G-protein
            signaling family. This protein contains one RGS domain, two
            Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The
            protein attenuates the signaling activity of G-proteins by binding,
            through its GoLoco domain, to specific types of activated,
            GTP-bound G alpha subunits. Acting as a GTPase activating protein
            (GAP), the protein increases the rate of conversion of the GTP to
            GDP. This hydrolysis allows the G alpha subunits to bind G
            beta/gamma subunit heterodimers, forming inactive G-protein
            heterotrimers, thereby terminating the signal. Alternate
            transcriptional splice variants of this gene have been observed but
            have not been thoroughly characterized. [provided by RefSeq, Jul
            2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.154317.1,
                                           SRR1803616.211548.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..467
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     Protein         1..467
                     /product="regulator of G-protein signaling 14 isoform 3"
                     /calculated_mol_wt=51117
     Region          19..58
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43566.4)"
     Site            20
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (O43566.4)"
     Site            42
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (O43566.4)"
     Site            45
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (O43566.4)"
     Region          58..186
                     /region_name="RGS_RGS14"
                     /note="Regulator of G protein signaling (RGS) domain found
                     in the RGS14 protein; cd08743"
                     /db_xref="CDD:188697"
     Site            order(88..90,92..93,130..135,137..138,165,167..169,173)
                     /site_type="other"
                     /note="putative G-alpha-3 interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:188697"
     Region          189..273
                     /region_name="RGS12_us1"
                     /note="Unstructured region of RGS12; pfam16613"
                     /db_xref="CDD:435463"
     Region          192..243
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43566.4)"
     Site            199
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97492; propagated from
                     UniProtKB/Swiss-Prot (O43566.4)"
     Site            203
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O08773; propagated from
                     UniProtKB/Swiss-Prot (O43566.4)"
     Site            218
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O08773; propagated from
                     UniProtKB/Swiss-Prot (O43566.4)"
     Site            288
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O08773; propagated from
                     UniProtKB/Swiss-Prot (O43566.4)"
     Region          302..372
                     /region_name="RBD1_RGS14"
                     /note="Ras-binding domain (RBD) 1 of regulator of G
                     protein signaling 14 (RGS14); cd17137"
                     /db_xref="CDD:340657"
     Site            order(334,352)
                     /site_type="other"
                     /note="key conserved lysines"
                     /db_xref="CDD:340657"
     Region          373..444
                     /region_name="RBD2_RGS14"
                     /note="Ras-binding domain (RBD) 2 of regulator of G
                     protein signaling 14 (RGS14); cd17139"
                     /db_xref="CDD:340659"
     Site            order(385,407)
                     /site_type="other"
                     /note="key conserved lysines"
                     /db_xref="CDD:340659"
     CDS             1..467
                     /gene="RGS14"
                     /coded_by="NM_001366618.1:102..1505"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:10636"
                     /db_xref="HGNC:HGNC:9996"
                     /db_xref="MIM:602513"
ORIGIN      
        1 mpgkpkhlgv pngrmvlavs dgelssttgp qgqgegrgss lsihslpsgp sspfpteeqp
       61 vaswalsfer llqdplglay fteflkkefs aenvtfwkac erfqqipasd tqqlaqearn
      121 iyqeflssqa lspvnidrqa wlgeevlaep rpdmfraqql qifnlmkfds yarfvksply
      181 recllaeaeg rplrepgssr lgspdatrkk pklkpgkslp lgveelgqlp pvegpggrpl
      241 rksfrrelgg tanaalrres qgslnssasl dlgflafvss kseshrkslg stegesesrp
      301 gkyccvylpd gtaslalarp gltirdmlag icekrglslp dikvylvgne qkalvldqdc
      361 tvladqevrl enritfelel talervvris akptkrlqea lqpilekhgl splevvlhrp
      421 gekqpldlgk lvssvaaqrl vldtlpgvki skardkspcr sqawwsc
//
LOCUS       NP_001073932            4314 aa            linear   PRI 14-MAR-2023
DEFINITION  cytoplasmic dynein 2 heavy chain 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001073932 XP_370652
VERSION     NP_001073932.1
DBSOURCE    REFSEQ: accession NM_001080463.2
KEYWORDS    RefSeq; MANE Plus Clinical.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 4314)
  AUTHORS   Lee J, Lee H, Lee YM, Kuht HJ, Thomas MG, Kim SJ, Lee ST and Han J.
  TITLE     DYNC2H1 variants cause Leber congenital amaurosis without syndromic
            features
  JOURNAL   Clin Genet 100 (1), 111-113 (2021)
   PUBMED   33755199
  REMARK    GeneRIF: DYNC2H1 variants cause Leber congenital amaurosis without
            syndromic features.
REFERENCE   2  (residues 1 to 4314)
  AUTHORS   Xia CL, Xiao SQ, Yang X, Liu CX, Qiu H, Jiang HK, Li-Ling J and Lyu
            Y.
  TITLE     Radiological and histopathological features of short
            rib-polydactyly syndrome type III and identification of two novel
            DYNC2H1 variants
  JOURNAL   Mol Med Rep 23 (6) (2021)
   PUBMED   33846808
  REMARK    GeneRIF: Radiological and histopathological features of short
            ribpolydactyly syndrome type III and identification of two novel
            DYNC2H1 variants.
REFERENCE   3  (residues 1 to 4314)
  AUTHORS   Thakur S, Gupta R, Bansal D, Singh C, Agarwal D and Saxena KK.
  TITLE     Clinical insights and molecular study of three foetuses with
            DYNC2H1 gene mutation causing short rib thoracic dystrophy
  JOURNAL   Clin Genet 99 (6), 853-854 (2021)
   PUBMED   33694158
  REMARK    GeneRIF: Clinical insights and molecular study of three foetuses
            with DYNC2H1 gene mutation causing short rib thoracic dystrophy.
REFERENCE   4  (residues 1 to 4314)
  AUTHORS   Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska
            AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway
            G, Arno G, Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S,
            Ellingford J, Black G, Webster A, Rydzanicz M, Stawinski P, Ploski
            R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A and Heon E.
  CONSRTM   Genomics England Research Consortium
  TITLE     DYNC2H1 hypomorphic or retina-predominant variants cause
            nonsyndromic retinal degeneration
  JOURNAL   Genet Med 22 (12), 2041-2051 (2020)
   PUBMED   32753734
  REMARK    GeneRIF: DYNC2H1 hypomorphic or retina-predominant variants cause
            nonsyndromic retinal degeneration.
REFERENCE   5  (residues 1 to 4314)
  AUTHORS   Cechova A, Baxova A, Zeman J, Lambert L, Honzik T, Leiska A, Cunat
            V and Tesarova M.
  TITLE     Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations
            in DYNC2H1 Gene
  JOURNAL   Prague Med Rep 120 (4), 124-130 (2019)
   PUBMED   31935347
  REMARK    GeneRIF: Molecular analyses using whole exome sequencing in one
            family revealed that the patient is compound heterozygote in
            DYNC2H1 gene for a frame-shift mutation c.4458delT resulting in
            premature stop-codon p.Phe1486Leufs*11 and a missense mutation
            c.9044A>G (p.Asp3015Gly)
REFERENCE   6  (residues 1 to 4314)
  AUTHORS   Neesen J, Koehler MR, Kirschner R, Steinlein C, Kreutzberger J,
            Engel W and Schmid M.
  TITLE     Identification of dynein heavy chain genes expressed in human and
            mouse testis: chromosomal localization of an axonemal dynein gene
  JOURNAL   Gene 200 (1-2), 193-202 (1997)
   PUBMED   9373155
REFERENCE   7  (residues 1 to 4314)
  AUTHORS   Kastury K, Taylor WE, Gutierrez M, Ramirez L, Coucke PJ, Van Hauwe
            P, Van Camp G and Bhasin S.
  TITLE     Chromosomal mapping of two members of the human dynein gene family
            to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5
            and DFNA 11
  JOURNAL   Genomics 44 (3), 362-364 (1997)
   PUBMED   9325061
REFERENCE   8  (residues 1 to 4314)
  AUTHORS   Criswell PS, Ostrowski LE and Asai DJ.
  TITLE     A novel cytoplasmic dynein heavy chain: expression of DHC1b in
            mammalian ciliated epithelial cells
  JOURNAL   J Cell Sci 109 (Pt 7), 1891-1898 (1996)
   PUBMED   8832411
REFERENCE   9  (residues 1 to 4314)
  AUTHORS   Vaisberg EA, Grissom PM and McIntosh JR.
  TITLE     Mammalian cells express three distinct dynein heavy chains that are
            localized to different cytoplasmic organelles
  JOURNAL   J Cell Biol 133 (4), 831-842 (1996)
   PUBMED   8666668
REFERENCE   10 (residues 1 to 4314)
  AUTHORS   Gibbons BH, Asai DJ, Tang WJ, Hays TS and Gibbons IR.
  TITLE     Phylogeny and expression of axonemal and cytoplasmic dynein genes
            in sea urchins
  JOURNAL   Mol Biol Cell 5 (1), 57-70 (1994)
   PUBMED   8186465
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001486.5, AP003382.3,
            AP000817.4, AP002961.2, AP003461.2 and AP002829.3.
            On Jan 18, 2007 this sequence version replaced XP_370652.4.
            
            Summary: This gene encodes a large cytoplasmic dynein protein that
            is involved in retrograde transport in the cilium and has a role in
            intraflagellar transport, a process required for ciliary/flagellar
            assembly. Mutations in this gene cause a heterogeneous spectrum of
            conditions related to altered primary cilium function and often
            involve polydactyly, abnormal skeletogenesis, and polycystic
            kidneys. Alternative splicing results in multiple transcript
            variants encoding distinct proteins. [provided by RefSeq, Jan
            2010].
            
            Transcript Variant: This variant (2) represents the longer
            transcript and encodes the longer isoform (2).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2157437,
                              SAMN03267761 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000650373.2/ ENSP00000497174.1
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..4314
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3"
     Protein         1..4314
                     /product="cytoplasmic dynein 2 heavy chain 1 isoform 2"
                     /note="cytoplasmic dynein 2 heavy chain 1; dynein heavy
                     chain 11; dynein heavy chain, isotype 1B; dynein,
                     cytoplasmic, heavy polypeptide 2; dynein cytoplasmic heavy
                     chain 2"
                     /calculated_mol_wt=493291
     Region          1..1650
                     /region_name="Stem. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCM8.4)"
     Region          162..639
                     /region_name="DHC_N1"
                     /note="Dynein heavy chain, N-terminal region 1; pfam08385"
                     /db_xref="CDD:429963"
     Region          1120..1518
                     /region_name="DHC_N2"
                     /note="Dynein heavy chain, N-terminal region 2; pfam08393"
                     /db_xref="CDD:429971"
     Region          <1361..4023
                     /region_name="DYN1"
                     /note="Dynein, heavy chain [Cytoskeleton]; COG5245"
                     /db_xref="CDD:227570"
     Region          1651..1986
                     /region_name="AAA_6"
                     /note="Hydrolytic ATP binding site of dynein motor region
                     D1; pfam12774"
                     /db_xref="CDD:432774"
     Region          1651..1875
                     /region_name="AAA 1. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCM8.4)"
     Region          1938..2161
                     /region_name="AAA 2. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCM8.4)"
     Region          2251..2505
                     /region_name="AAA 3. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCM8.4)"
     Region          2617..2863
                     /region_name="AAA 4. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCM8.4)"
     Region          2881..3169
                     /region_name="Stalk. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCM8.4)"
     Region          3697..3912
                     /region_name="AAA 6. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCM8.4)"
     Region          4013..4311
                     /region_name="Dynein_C"
                     /note="Dynein heavy chain C-terminal domain; pfam18199"
                     /db_xref="CDD:436342"
     CDS             1..4314
                     /gene="DYNC2H1"
                     /gene_synonym="ATD3; DHC1b; DHC2; DNCH2; DYH1B; hdhc11;
                     SRPS2B; SRTD3"
                     /coded_by="NM_001080463.2:150..13094"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS44717.1"
                     /db_xref="GeneID:79659"
                     /db_xref="HGNC:HGNC:2962"
                     /db_xref="MIM:603297"
ORIGIN      
        1 mangtadvrk lfiftttqny fglmselwdq pllcnclein nflddgnqml lrvqrsdagi
       61 sfsntiefgd tkdkvlvffk lrpevitden lhdnilvssm lespisslyq avrqvfapml
      121 lkdqewsrnf dpklqnllse leaglgivlr rsdtnltklk fkeddtrgil tpsdefqfwi
      181 eqahrgnkqi skeranyfke lfetiarefy nldslsllev vdlvettqdv vddvwrqteh
      241 dhypesrmlh lldiiggsfg rfvqkklgtl nlwedpyylv keslkagisi ceqwvivcnh
      301 ltgqvwqryv phpwknekyf petldklgkr leevlairti hekflyflpa seekiicltr
      361 vfepftglnp vqynpytepl wkaavsqyek iiapaeqkia gklknyisei qdspqqllqa
      421 flkykelvkr ptiskelmle retllarlvd sikdfrldfe nrcrgipgda sgplsgknls
      481 evvnsivwvr qlelkvddti kiaeallsdl pgfrcfhqsa kdlldqlkly eqeqfddwsr
      541 diqsglsdsr sglcieassr imeldsndgl lkvhysdrlv illrevrqls algfvipaki
      601 qqvaniaqkf ckqaiilkqv ahfynsidqq miqsqrpmml qsalafeqii knskagsggk
      661 sqitwdnpke legyiqklqn aaerlatenr klrkwhttfc ekvvvlmnid llrqqqrwkd
      721 glqelrtgla tveaqgfqas dmhawkqhwn hqlykalehq yqmglealne nlpeinidlt
      781 ykqgrlqfrp pfeeirakyy remkrfigip nqfkgvgeag desifsimid rnasgfltif
      841 skaedlfrrl savlhqhkew ivigqvdmea lvekhlftvh dweknfkalk ikgkeverlp
      901 savkvdclni ncnpvktvid dliqklfdll vlslkksiqa hlheidtfvt eamevltimp
      961 qsveeigdan lqysklqerk peilplfqea edknrllrtv agggletisn lkakwdkfel
     1021 mmeshqlmik dqievmkgnv ksrlqiyyqe lekfkarwdq lkpgddviet gqhntldksa
     1081 klikekkief ddlevtrkkl vddchhfrle epnfslassi skdiescaqi wafyeefqqg
     1141 fqemanedwi tfrtktylfe eflmnwhdrl rkveehsvmt vklqsevdky kivipilkyv
     1201 rgehlspdhw ldlfrllglp rgtslekllf gdllrvadti vakaadlkdl nsraqgevti
     1261 realreldlw gvgavftlid yedsqsrtmk likdwkdivn qvgdnrcllq slkdspyykg
     1321 fedkvsiwer klaeldeylq nlnhiqrkwv ylepifgrga lpkeqtrfnr vdedfrsimt
     1381 dikkdnrvtt ltthagirns lltildqlqr cqkslnefle ekrsafprfy figdddllei
     1441 lgqstnpsvi qshlkklfag insvcfdeks khitamksle gevvpfknkv plsnnvetwl
     1501 ndlalemkkt leqllkecvt tgrssqgavd pslfpsqilc laeqikfted venaikdhsl
     1561 hqietqlvnk leqytnidts sedpgntesg ilelklkali ldiihnidvv kqlnqiqvht
     1621 tedwawkkql rfymksdhtc cvqmvdsefq ytyeyqgnas klvytpltdk cyltltqamk
     1681 mglggnpygp agtgktesvk alggllgrqv lvfncdegid vksmgrifvg lvkcgawgcf
     1741 defnrleesv lsavsmqiqt iqdalknhrt vcellgkeve vnsnsgifit mnpagkgygg
     1801 rqklpdnlkq lfrpvamshp dneliaevil ysegfkdakv lsrklvaifn lsrelltpqq
     1861 hydwglralk tvlrgsgnll rqlnksgttq naneshivvq alrlntmskf tftdctrfda
     1921 likdvfpgie lkeveydels aalkqvfeea nyeiipnqik kalelyeqlc qrmgvvivgp
     1981 sgagkstlwr mlraalcktg kvvkqytmnp kampryqllg hidmdtrews dgvltnsarq
     2041 vvrepqdvss wiicdgdidp ewieslnsvl ddnrlltmps geriqfgpnv nfvfethdls
     2101 caspatisrm gmiflsdeet dlnslikswl rnqpaeyrnn lenwigdyfe kalqwvlkqn
     2161 dyvvetslvg tvmnglshlh gcrdhdefii nlirglggnl nmksrleftk evfhwaresp
     2221 pdfhkpmdty ydstrgrlat yvlkkpedlt addfsngltl pviqtpdmqr gldyfkpwls
     2281 sdtkqpfilv gpegcgkgml lryafsqlrs tqiatvhcsa qttsrhllqk lsqtcmvist
     2341 ntgrvyrpkd cerlvlylkd inlpkldkwg tstlvaflqq vltyqgfyde nlewvgleni
     2401 qivasmsagg rlgrhklttr ftsivrlcsi dypereqlqt iygaylepvl hknlknhsiw
     2461 gssskiylla gsmvqvyeqv rakftvddys hyfftpcilt qwvlglfryd leggssnhpl
     2521 dyvleivaye arrlfrdkiv gakelhlfdi iltsvfqgdw gsdildnmsd sfyvtwgarh
     2581 nsgaraapgq plpphgkplg klnstdlkdv ikkglihygr dnqnldillf hevleymsri
     2641 drvlsfpggs lllagrsgvg rrtitslvsh mhgavlfspk isrgyelkqf kndlkhvlql
     2701 agieaqqvvl lledyqfvhp tfleminsll ssgevpglyt leeleplllp lkdqasqdgf
     2761 fgpvfnyfty riqqnlhivl imdsansnfm incesnpalh kkcqvlwmeg wsnssmkkip
     2821 emlfsetggg ekyndkkrke ekkknsvdpd flksfllihe sckaygatps rymtflhvys
     2881 aissskkkel lkrqshlqag vsklneakal vdelnrkage qsvllktkqd eadaalqmit
     2941 vsmqdaseqk telerlkhri aeevvkieer knkiddelke vqplvneakl avgnikpesl
     3001 seirslrmpp dvirdilegv lrlmgifdts wvsmksflak rgvrediatf darniskeir
     3061 esveellfkn kgsfdpknak rastaaapla awvkaniqys hvlerihple teqaglesnl
     3121 kktedrkrkl eellnsvgqk vselkekfqs rtseaaklea evskaqetik aaevlinqld
     3181 rehkrwnaqv veiteelatl pkraqlaaaf itylsaapes lrktcleewt ksaglekfdl
     3241 rrflcteseq liwkseglps ddlsienalv ilqiiglksw srvcpflidp ssqatewlkt
     3301 hlkdsrlevi nqqdsnfita lelavrfgkt liiqemdgve pvlypllrrd lvaqgpryvv
     3361 qigdkiidyn eefrlflstr npnpfippda asivtevnft ttrsglrgql laltiqhekp
     3421 dleeqktkll qqeedkkiql akleesllet latsqgnile nkdlieslnq tkassaliqe
     3481 slkesyklqi sldqerdayl plaesaskmy fiisdlskin nmyrfslaaf lrlfqralqn
     3541 kqdsenteqr iqslisslqh mvyeyicrcl fkadqlmfal hfvrgmhpel fqenewdtft
     3601 gvvvgdmlrk adsqqkirdq lpswidqers wavatlkial pslyqtlcfe daalwrtyyn
     3661 nsmceqefps ilakkvslfq qilvvqalrp drlqsamalf acktlglkev splplnlkrl
     3721 yketleiepi liiispgadp sqelqelana ersgecyhqv amgqgqadla iqmlkecarn
     3781 gdwlclknlh lvvswlpvle kelntlqpkd tfrlwltaev hpnftpillq sslkityesp
     3841 pglkknlmrt yeswtpeqis kkdnthraha lfslawfhaa cqerrnyipq gwtkfyefsl
     3901 sdlragynii drlfdgakdv qwefvhglle naiyggridn yfdlrvlqsy lkqffnssvi
     3961 dvfnqrnkks ifpysvslpq scsildyrav iekipeddkp sffglpania rssqrmissq
     4021 visqlrilgr sitagskfdr eiwsnelspv lnlwkklnqn snlihqkvpp pndrqgspil
     4081 sfiileqfna irlvqsvhqs laalskvirg ttllssevqk lasallnqkc plawqskweg
     4141 pedplqylrg lvaralaiqn wvdkaekqal lsetldlsel fhpdtflnal rqetaravgr
     4201 svdslkfvas wkgrlqeakl qikisgllle gcsfdgnqls enqldspsvs svlpcfmgwi
     4261 pqdacgpysp decislpvyt saerdrvvtn idvpcggnqd qwiqcgaalf lknq
//
LOCUS       NP_001354532             248 aa            linear   PRI 14-MAR-2023
DEFINITION  rap guanine nucleotide exchange factor 5 isoform 5 [Homo sapiens].
ACCESSION   NP_001354532
VERSION     NP_001354532.1
DBSOURCE    REFSEQ: accession NM_001367603.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 248)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   2  (residues 1 to 248)
  AUTHORS   Murea M, Lu L, Ma L, Hicks PJ, Divers J, McDonough CW, Langefeld
            CD, Bowden DW and Freedman BI.
  TITLE     Genome-wide association scan for survival on dialysis in
            African-Americans with type 2 diabetes
  JOURNAL   Am J Nephrol 33 (6), 502-509 (2011)
   PUBMED   21546767
REFERENCE   3  (residues 1 to 248)
  AUTHORS   Hwang SJ, Yang Q, Meigs JB, Pearce EN and Fox CS.
  TITLE     A genome-wide association for kidney function and endocrine-related
            traits in the NHLBI's Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S10 (2007)
   PUBMED   17903292
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 248)
  AUTHORS   Rebhun JF, Castro AF and Quilliam LA.
  TITLE     Identification of guanine nucleotide exchange factors (GEFs) for
            the Rap1 GTPase. Regulation of MR-GEF by M-Ras-GTP interaction
  JOURNAL   J Biol Chem 275 (45), 34901-34908 (2000)
   PUBMED   10934204
REFERENCE   5  (residues 1 to 248)
  AUTHORS   de Rooij J, Rehmann H, van Triest M, Cool RH, Wittinghofer A and
            Bos JL.
  TITLE     Mechanism of regulation of the Epac family of cAMP-dependent
            RapGEFs
  JOURNAL   J Biol Chem 275 (27), 20829-20836 (2000)
   PUBMED   10777494
REFERENCE   6  (residues 1 to 248)
  AUTHORS   Ichiba T, Hoshi Y, Eto Y, Tajima N and Kuraishi Y.
  TITLE     Characterization of GFR, a novel guanine nucleotide exchange factor
            for Rap1
  JOURNAL   FEBS Lett 457 (1), 85-89 (1999)
   PUBMED   10486569
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005079.6.
            
            Summary: Members of the RAS (see HRAS; MIM 190020) subfamily of
            GTPases function in signal transduction as GTP/GDP-regulated
            switches that cycle between inactive GDP- and active GTP-bound
            states. Guanine nucleotide exchange factors (GEFs), such as
            RAPGEF5, serve as RAS activators by promoting acquisition of GTP to
            maintain the active GTP-bound state and are the key link between
            cell surface receptors and RAS activation (Rebhun et al., 2000
            [PubMed 10934204]).[supplied by OMIM, Mar 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.328611.1,
                                           SRR1803612.18672.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..248
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.3"
     Protein         1..248
                     /product="rap guanine nucleotide exchange factor 5 isoform
                     5"
                     /note="guanine nucleotide exchange factor for Rap1;
                     M-Ras-regulated GEF; related to Epac; M-Ras-regulated Rap
                     GEF; Rap guanine nucleotide exchange factor (GEF) 5"
                     /calculated_mol_wt=29294
     Region          68..200
                     /region_name="RasGEFN"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     GTPases; N-terminal motif; smart00229"
                     /db_xref="CDD:214571"
     Site            order(87,145..146,149,152..153,188..189,192,199)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:100121"
     CDS             1..248
                     /gene="RAPGEF5"
                     /gene_synonym="GFR; MR-GEF; MRGEF; REPAC"
                     /coded_by="NM_001367603.1:85..831"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:9771"
                     /db_xref="HGNC:HGNC:16862"
                     /db_xref="MIM:609527"
ORIGIN      
        1 mgssrlrvfd phlerkdsaa alsdrelplp tfdvpyfkyi deededdews srsqsstedd
       61 svdsllsdry vvvsgtpeki lehllndlhl eevqdketet llddflltyt vfmttddlcq
      121 allrhysakk yqgkeensdv prrkrkvlhl vsqwialykd wlpedehskm flktiyrnvl
      181 ddvyeypile kelkefqkil gmhrrhtvde yspqkknkal fhqfslkenw lqhrgtvtet
      241 eeseyglk
//
LOCUS       NP_001307967             684 aa            linear   PRI 15-MAR-2023
DEFINITION  G-protein-signaling modulator 2 [Homo sapiens].
ACCESSION   NP_001307967 XP_005270844
VERSION     NP_001307967.1
DBSOURCE    REFSEQ: accession NM_001321038.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 684)
  AUTHORS   Esser RL, Bruck C, Thiele J, Golumba-Nagy V, Meyer A,
            Steinbach-Knodgen E, Yan S, Tho Pesch C, Stahl D, Schiller J and
            Kofler DM.
  TITLE     Truncated isoforms of GPSM2 containing the GoLoco motif region
            promote CD4+ T-cell migration in SLE
  JOURNAL   Lupus Sci Med 9 (1) (2022)
   PUBMED   35940821
  REMARK    GeneRIF: Truncated isoforms of GPSM2 containing the GoLoco motif
            region promote CD4(+) T-cell migration in SLE.
REFERENCE   2  (residues 1 to 684)
  AUTHORS   Deng M, Liu B, Zhang Z, Chen Y, Wang Y, Wang X, Lv Q, Yang X, Hou
            K, Che X, Qu X, Liu Y, Zhang Y and Hu X.
  TITLE     Loss of G-protein-signaling modulator 2 accelerates proliferation
            of lung adenocarcinoma via EGFR signaling pathway
  JOURNAL   Int J Biochem Cell Biol 122, 105716 (2020)
   PUBMED   32058048
  REMARK    GeneRIF: Loss of G-protein-signaling modulator 2 accelerates
            proliferation of lung adenocarcinoma via EGFR signaling pathway.
REFERENCE   3  (residues 1 to 684)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 684)
  AUTHORS   Zhang Z, Li Z, Deng M, Liu B, Xin X, Zhao Z, Zhang Y and Lv Q.
  TITLE     Downregulation of GPSM2 is associated with primary resistance to
            paclitaxel in breast cancer
  JOURNAL   Oncol Rep 43 (3), 965-974 (2020)
   PUBMED   32020211
  REMARK    GeneRIF: Downregulation of GPSM2 is associated with primary
            resistance to paclitaxel in breast cancer.
REFERENCE   5  (residues 1 to 684)
  AUTHORS   Yang D, Ji F, Li Y, Jiao Y and Fang X.
  TITLE     GPSM2 Serves as an Independent Prognostic Biomarker for Liver
            Cancer Survival
  JOURNAL   Technol Cancer Res Treat 19, 1533033820945817 (2020)
   PUBMED   32812493
  REMARK    GeneRIF: GPSM2 Serves as an Independent Prognostic Biomarker for
            Liver Cancer Survival.
REFERENCE   6  (residues 1 to 684)
  AUTHORS   Du Q, Taylor L, Compton DA and Macara IG.
  TITLE     LGN blocks the ability of NuMA to bind and stabilize microtubules.
            A mechanism for mitotic spindle assembly regulation
  JOURNAL   Curr Biol 12 (22), 1928-1933 (2002)
   PUBMED   12445386
REFERENCE   7  (residues 1 to 684)
  AUTHORS   Blumer JB, Chandler LJ and Lanier SM.
  TITLE     Expression analysis and subcellular distribution of the two
            G-protein regulators AGS3 and LGN indicate distinct functionality.
            Localization of LGN to the midbody during cytokinesis
  JOURNAL   J Biol Chem 277 (18), 15897-15903 (2002)
   PUBMED   11832491
  REMARK    GeneRIF: LGN is expressed in neuronal, astroglial, and microglial
            cultures
REFERENCE   8  (residues 1 to 684)
  AUTHORS   Du Q, Stukenberg PT and Macara IG.
  TITLE     A mammalian Partner of inscuteable binds NuMA and regulates mitotic
            spindle organization
  JOURNAL   Nat Cell Biol 3 (12), 1069-1075 (2001)
   PUBMED   11781568
REFERENCE   9  (residues 1 to 684)
  AUTHORS   Mochizuki N, Cho G, Wen B and Insel PA.
  TITLE     Identification and cDNA cloning of a novel human mosaic protein,
            LGN, based on interaction with G alpha i2
  JOURNAL   Gene 181 (1-2), 39-43 (1996)
   PUBMED   8973305
REFERENCE   10 (residues 1 to 684)
  AUTHORS   Shearer,A.E., Hildebrand,M.S. and Smith,R.J.H.
  TITLE     Hereditary Hearing Loss and Deafness Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC365139.1, AK295563.1,
            AB445462.1, AI224972.1 and AL449266.17.
            On Mar 11, 2016 this sequence version replaced XP_005270844.1.
            
            Summary: The protein encoded by this gene belongs to a family of
            proteins that modulate activation of G proteins, which transduce
            extracellular signals received by cell surface receptors into
            integrated cellular responses. The N-terminal half of this protein
            contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal
            half contains 4 GoLoco motifs, which are involved in guanine
            nucleotide exchange. This protein may play a role in neuroblast
            division and in the development of normal hearing. Mutations in
            this gene are associated with autosomal recessive nonsyndromic
            deafness (DFNB82). Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Mar 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK295563.1, SRR14038191.4382321.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..684
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     Protein         1..684
                     /product="G-protein-signaling modulator 2"
                     /note="G-protein signalling modulator 2 (AGS3-like, C.
                     elegans); mosaic protein LGN"
                     /calculated_mol_wt=76531
     Region          22..357
                     /region_name="Important for interaction with NUMA1, INSC
                     and FRMPD1. /evidence=ECO:0000250|UniProtKB:Q8VDU0"
                     /note="propagated from UniProtKB/Swiss-Prot (P81274.3)"
     Region          <27..286
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          27..52
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          64..90
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(66..67,70..71,73,103,106..107,110..111,113..114,143,
                     146..147,150..151,154)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          101..131
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            132
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKG. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P81274.3)"
     Region          203..230
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(243,246..247,250..251,253,283,286..287,290..291,
                     293..294,323,326..327,330..331,334)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          243..314
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     Region          243..270
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          281..311
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          286..354
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     Region          322..350
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            352
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKG. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P81274.3)"
     Site            408
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P81274.3)"
     Site            483
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P81274.3)"
     Site            486
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P81274.3)"
     Region          490..511
                     /region_name="GoLoco"
                     /note="GoLoco motif; pfam02188"
                     /db_xref="CDD:426645"
     Site            501
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKC. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P81274.3)"
     Site            541
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P81274.3)"
     Region          545..566
                     /region_name="GoLoco"
                     /note="GoLoco motif; pfam02188"
                     /db_xref="CDD:426645"
     Site            565
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P81274.3)"
     Region          594..616
                     /region_name="GoLoco"
                     /note="LGN motif, putative GEFs specific for G-alpha
                     GTPases; smart00390"
                     /db_xref="CDD:214645"
     Site            607
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKG. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P81274.3)"
     Region          629..650
                     /region_name="GoLoco"
                     /note="GoLoco motif; pfam02188"
                     /db_xref="CDD:426645"
     CDS             1..684
                     /gene="GPSM2"
                     /gene_synonym="CMCS; DFNB82; LGN; PINS"
                     /coded_by="NM_001321038.2:261..2315"
                     /db_xref="CCDS:CCDS792.2"
                     /db_xref="GeneID:29899"
                     /db_xref="HGNC:HGNC:29501"
                     /db_xref="MIM:609245"
ORIGIN      
        1 meenlismre dhsfhvryrm easclelale gerlcksgdc ragvsffeaa vqvgtedlkt
       61 lsaiysqlgn ayfylhdyak aleyhhhdlt lartigdqlg eakasgnlgn tlkvlgnfde
      121 aivccqrhld isrelndkvg earalynlgn vyhakgksfg cpgpqdvgef peevrdalqa
      181 avdfyeenls lvtalgdraa qgrafgnlgn thyllgnfrd aviaheqrll iakefgdkaa
      241 erraysnlgn ayiflgefet aseyykktll larqlkdrav eaqscyslgn tytllqdyek
      301 aidyhlkhla iaqelndrig egracwslgn aytalgnhdq amhfaekhle isrevgdksg
      361 eltarlnlsd lqmvlglsys tnnsimsent eidsslngvr pklgrrhsme nmelmkltpe
      421 kvqnwnseil akqkpliakp sakllfvnrl kgkkyktnss tkvlqdasns idhripnsqr
      481 kisadtigde gffdllsrfq snrmddqrcc lqeknchtas tttsstppkm mlktssvpvv
      541 spntdefldl lassqsrrld dqrasfsnlp glrltqnsqs vlshlmtndn keadedffdi
      601 lvkcqgsrld dqrcapppat tkgptvpded ffslilrsqg krmdeqrvll qrdqnrdtdf
      661 glkdflqnna llefknsgkk sadh
//
LOCUS       NP_057430                367 aa            linear   PRI 15-MAR-2023
DEFINITION  photoreceptor-specific nuclear receptor isoform a [Homo sapiens].
ACCESSION   NP_057430
VERSION     NP_057430.1
DBSOURCE    REFSEQ: accession NM_016346.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 367)
  AUTHORS   Aisa-Marin I, Lopez-Iniesta MJ, Milla S, Lillo J, Navarro G, de la
            Villa P and Marfany G.
  TITLE     Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a
            new isoform and generates retinitis pigmentosa and enhanced S-cone
            syndrome models
  JOURNAL   Neurobiol Dis 146, 105122 (2020)
   PUBMED   33007388
  REMARK    GeneRIF: Nr2e3 functional domain ablation by CRISPR-Cas9D10A
            identifies a new isoform and generates retinitis pigmentosa and
            enhanced S-cone syndrome models.
REFERENCE   2  (residues 1 to 367)
  AUTHORS   Al-Khuzaei S, Broadgate S, Halford S, Jolly JK, Shanks M, Clouston
            P and Downes SM.
  TITLE     Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings
            in Three Patients
  JOURNAL   Genes (Basel) 11 (11), 1288 (2020)
   PUBMED   33138239
  REMARK    GeneRIF: Novel Pathogenic Sequence Variants in NR2E3 and Clinical
            Findings in Three Patients.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 367)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 367)
  AUTHORS   Naessens S, Ruysschaert L, Lefever S, Coppieters F and De Baere E.
  TITLE     Antisense Oligonucleotide-Based Downregulation of the G56R
            Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant
            Retinitis Pigmentosa
  JOURNAL   Genes (Basel) 10 (5), 363 (2019)
   PUBMED   31083481
  REMARK    GeneRIF: Authors overexpressed wild type (WT) or mutant NR2E3 in
            RPE-1 cells, followed by AON treatment. Transcript and protein
            levels of WT and mutant NR2E3 were detected by reverse
            transcription quantitative polymerase chain reaction (RT-qPCR) and
            Western blot respectively.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 367)
  AUTHORS   Murro V, Mucciolo DP, Sodi A, Passerini I, Giorgio D, Virgili G and
            Rizzo S.
  TITLE     Novel clinical findings in autosomal recessive NR2E3-related
            retinal dystrophy
  JOURNAL   Graefes Arch Clin Exp Ophthalmol 257 (1), 9-22 (2019)
   PUBMED   30324420
  REMARK    GeneRIF: Macular involvement was detectable in all the patients,
            and the abnormal foveal avascular zone (FAZ) supports the role of
            NR2E3 in retinal development.
REFERENCE   6  (residues 1 to 367)
  AUTHORS   Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby
            C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett
            J, Weleber RG, Fishman GA, Wright AF, Stone EM and Sheffield VC.
  TITLE     Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone
            syndrome, a disorder of retinal cell fate
  JOURNAL   Nat Genet 24 (2), 127-131 (2000)
   PUBMED   10655056
REFERENCE   7  (residues 1 to 367)
  AUTHORS   Rendtorff ND, Vissing H, Tumer Z, Silahtaroglu A and Tommerup N.
  TITLE     Assignment of the NR2E3 gene to mouse chromosome 9 and to human
            chromosome 15q22.33-->q23
  JOURNAL   Cytogenet Cell Genet 89 (3-4), 279-280 (2000)
   PUBMED   10965145
REFERENCE   8  (residues 1 to 367)
  AUTHORS   Chen F, Figueroa DJ, Marmorstein AD, Zhang Q, Petrukhin K, Caskey
            CT and Austin CP.
  TITLE     Retina-specific nuclear receptor: A potential regulator of cellular
            retinaldehyde-binding protein expressed in retinal pigment
            epithelium and Muller glial cells
  JOURNAL   Proc Natl Acad Sci U S A 96 (26), 15149-15154 (1999)
   PUBMED   10611353
REFERENCE   9  (residues 1 to 367)
  AUTHORS   Kobayashi M, Takezawa S, Hara K, Yu RT, Umesono Y, Agata K,
            Taniwaki M, Yasuda K and Umesono K.
  TITLE     Identification of a photoreceptor cell-specific nuclear receptor
  JOURNAL   Proc Natl Acad Sci U S A 96 (9), 4814-4819 (1999)
   PUBMED   10220376
REFERENCE   10 (residues 1 to 367)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104938.7, AF148128.1 and
            KF495720.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This protein is part of a large family of nuclear receptor
            transcription factors involved in signaling pathways. Nuclear
            receptors have been shown to regulate pathways involved in
            embryonic development, as well as in maintenance of proper cell
            function in adults. Members of this family are characterized by
            discrete domains that function in DNA and ligand binding. This gene
            encodes a retinal nuclear receptor that is a ligand-dependent
            transcription factor. Defects in this gene are a cause of enhanced
            S cone syndrome. Alternatively spliced transcript variants encoding
            different isoforms have been identified. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF148128.1, HQ692847.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q23"
     Protein         1..367
                     /product="photoreceptor-specific nuclear receptor isoform
                     a"
                     /note="retina-specific nuclear receptor;
                     photoreceptor-specific nuclear receptor"
                     /calculated_mol_wt=39507
     Region          39..130
                     /region_name="NR_DBD_PNR"
                     /note="DNA-binding domain of the photoreceptor
                     cell-specific nuclear receptor (PNR) is composed of two
                     C4-type zinc fingers; cd06970"
                     /db_xref="CDD:143528"
     Site            order(47,50,64,67,83,90,100,103)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143528"
     Site            order(57..59,65..66,68,70,73,76,97..98,101,104,115,118)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143528"
     Region          118..162
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5X4.1)"
     Region          192..367
                     /region_name="NR_LBD_Tlx_PNR_like"
                     /note="The ligand binding domain of Tailless-like
                     proteins, orphan nuclear receptors; cd06950"
                     /db_xref="CDD:132748"
     Region          193..215
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5X4.1)"
     Site            order(219..220,224,258,262,265,279,300)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:132748"
     Site            order(229,232,236,241,246..247,249..250,253..254)
                     /site_type="active"
                     /note="putative coactivator recognition site [active]"
                     /db_xref="CDD:132748"
     CDS             1..367
                     /gene="NR2E3"
                     /gene_synonym="ESCS; PNR; rd7; RNR; RP37"
                     /coded_by="NM_016346.4:191..1294"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS73751.1"
                     /db_xref="GeneID:10002"
                     /db_xref="HGNC:HGNC:7974"
                     /db_xref="MIM:604485"
ORIGIN      
        1 metrptalms stvaaaapaa gaasrkespg rwglgedptg vspslqcrvc gdsssgkhyg
       61 iyacngcsgf fkrsvrrrli yrcqvgagmc pvdkahrnqc qacrlkkclq agmnqdavqn
      121 erqprstaqv hldsmesnte srpeslvapp apagrsprgp tpmsaaralg hhfmaslita
      181 etcakleped adenidvtsn dpefpsspys ssspcgldsi hetsarllfm avkwaknlpv
      241 fsslpfrdqv illeeawsel fllgaiqwsl pldscpllap peasaaggaq grltlasmet
      301 rvlqetisrf ralavdptef acmkalvlfk petrglkdpe hvealqdqsq vmlsqhskah
      361 hpsqpvr
//
LOCUS       NP_001188254             519 aa            linear   PRI 17-MAR-2023
DEFINITION  Na(+)/H(+) exchange regulatory cofactor NHE-RF3 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001188254
VERSION     NP_001188254.1
DBSOURCE    REFSEQ: accession NM_001201325.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 519)
  AUTHORS   Chen X, Wang X, Zhu F, Qian C, Xu F, Huang X, Zhang W and Sun B.
  TITLE     HBV Infection-Related PDZK1 Plays an Oncogenic Role by Regulating
            the PI3K-Akt Pathway and Fatty Acid Metabolism and Enhances
            Immunosuppression
  JOURNAL   J Immunol Res 2022, 8785567 (2022)
   PUBMED   36052278
  REMARK    GeneRIF: HBV Infection-Related PDZK1 Plays an Oncogenic Role by
            Regulating the PI3K-Akt Pathway and Fatty Acid Metabolism and
            Enhances Immunosuppression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 519)
  AUTHORS   Caillet-Saguy C and Wolff N.
  TITLE     PDZ-Containing Proteins Targeted by the ACE2 Receptor
  JOURNAL   Viruses 13 (11), 2281 (2021)
   PUBMED   34835087
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 519)
  AUTHORS   Zhang Q, Gefter J, Sneddon WB, Mamonova T and Friedman PA.
  TITLE     ACE2 interaction with cytoplasmic PDZ protein enhances SARS-CoV-2
            invasion
  JOURNAL   iScience 24 (7), 102770 (2021)
   PUBMED   34189428
REFERENCE   4  (residues 1 to 519)
  AUTHORS   Junyent M, Arnett DK, Tsai MY, Kabagambe EK, Straka RJ, Province M,
            An P, Lai CQ, Parnell LD, Shen J, Lee YC, Borecki I and Ordovas JM.
  TITLE     Genetic variants at the PDZ-interacting domain of the scavenger
            receptor class B type I interact with diet to influence the risk of
            metabolic syndrome in obese men and women
  JOURNAL   J Nutr 139 (5), 842-848 (2009)
   PUBMED   19321583
  REMARK    GeneRIF: findings suggest that PDZ domain containing 1
            (PDZK1)_i33968C > T genetic variants may be associated with a
            higher risk of exhibiting metabolic syndrome
            GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   5  (residues 1 to 519)
  AUTHORS   Inoue J, Otsuki T, Hirasawa A, Imoto I, Matsuo Y, Shimizu S,
            Taniwaki M and Inazawa J.
  TITLE     Overexpression of PDZK1 within the 1q12-q22 amplicon is likely to
            be associated with drug-resistance phenotype in multiple myeloma
  JOURNAL   Am J Pathol 165 (1), 71-81 (2004)
   PUBMED   15215163
  REMARK    GeneRIF: Overexpression of PDZK1 is associated with a
            drug-resistance phenotype in multiple myeloma.
REFERENCE   6  (residues 1 to 519)
  AUTHORS   Gisler SM, Stagljar I, Traebert M, Bacic D, Biber J and Murer H.
  TITLE     Interaction of the type IIa Na/Pi cotransporter with PDZ proteins
  JOURNAL   J Biol Chem 276 (12), 9206-9213 (2001)
   PUBMED   11099500
REFERENCE   7  (residues 1 to 519)
  AUTHORS   Wang S, Yue H, Derin RB, Guggino WB and Li M.
  TITLE     Accessory protein facilitated CFTR-CFTR interaction, a molecular
            mechanism to potentiate the chloride channel activity
  JOURNAL   Cell 103 (1), 169-179 (2000)
   PUBMED   11051556
REFERENCE   8  (residues 1 to 519)
  AUTHORS   Kocher O, Comella N, Gilchrist A, Pal R, Tognazzi K, Brown LF and
            Knoll JH.
  TITLE     PDZK1, a novel PDZ domain-containing protein up-regulated in
            carcinomas and mapped to chromosome 1q21, interacts with cMOAT
            (MRP2), the multidrug resistance-associated protein
  JOURNAL   Lab Invest 79 (9), 1161-1170 (1999)
   PUBMED   10496535
REFERENCE   9  (residues 1 to 519)
  AUTHORS   White KE, Biber J, Murer H and Econs MJ.
  TITLE     A PDZ domain-containing protein with homology to Diphor-1 maps to
            human chromosome 1q21
  JOURNAL   Ann Hum Genet 62 (Pt 4), 287-290 (1998)
   PUBMED   9924606
REFERENCE   10 (residues 1 to 519)
  AUTHORS   Kocher O, Comella N, Tognazzi K and Brown LF.
  TITLE     Identification and partial characterization of PDZK1: a novel
            protein containing PDZ interaction domains
  JOURNAL   Lab Invest 78 (1), 117-125 (1998)
   PUBMED   9461128
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX477678.1, AF012281.1 and
            AC242845.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a PDZ domain-containing scaffolding
            protein. PDZ domain-containing molecules bind to and mediate the
            subcellular localization of target proteins. The encoded protein
            mediates the localization of cell surface proteins and plays a
            critical role in cholesterol metabolism by regulating the HDL
            receptor, scavenger receptor class B type 1. Single nucleotide
            polymorphisms in this gene may be associated with metabolic
            syndrome, and overexpression of this gene may play a role in drug
            resistance of multiple myeloma. Pseudogenes of this gene are
            located on the long arm of chromosome 1. Alternatively spliced
            transcript variants encoding multiple isoforms have been observed
            for this gene. [provided by RefSeq, Jan 2011].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1 and 2 encode the same isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.224897.1,
                                           SRR3476690.150549.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000417171.6/ ENSP00000394485.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..519
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.1"
     Protein         1..519
                     /product="Na(+)/H(+) exchange regulatory cofactor NHE-RF3
                     isoform 1"
                     /note="PDZ-containing kidney protein 1; Na(+)/H(+)
                     exchange regulatory cofactor NHE-RF3; naPi-Cap1;
                     CFTR-associated protein of 70 kDa; sodium-hydrogen
                     exchanger regulatory factor 3; na/Pi cotransporter
                     C-terminal-associated protein 1; Na(+)/H(+) exchange
                     regulatory cofactor 3"
                     /calculated_mol_wt=56998
     Region          7..87
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(19..22,24,71..72,75..76)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Site            108
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JJ40; propagated from
                     UniProtKB/Swiss-Prot (Q5T2W1.2)"
     Region          132..212
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(144..147,149,196..197,200..201)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Site            148
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q5T2W1.2)"
     Site            192
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JIL4; propagated from
                     UniProtKB/Swiss-Prot (Q5T2W1.2)"
     Region          241..320
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            250
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JIL4; propagated from
                     UniProtKB/Swiss-Prot (Q5T2W1.2)"
     Site            order(252..255,257,304..305,308..309)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Site            334
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JIL4; propagated from
                     UniProtKB/Swiss-Prot (Q5T2W1.2)"
     Region          347..374
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T2W1.2)"
     Site            348
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JIL4; propagated from
                     UniProtKB/Swiss-Prot (Q5T2W1.2)"
     Region          375..455
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(387..390,392,439..440,443..444)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          <437..>481
                     /region_name="F1-ATPase_gamma"
                     /note="mitochondrial ATP synthase gamma subunit; cl00365"
                     /db_xref="CDD:444866"
     Site            451
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9JIL4; propagated from
                     UniProtKB/Swiss-Prot (Q5T2W1.2)"
     Region          479..519
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T2W1.2)"
     Site            492
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JIL4; propagated from
                     UniProtKB/Swiss-Prot (Q5T2W1.2)"
     Site            508
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JIL4; propagated from
                     UniProtKB/Swiss-Prot (Q5T2W1.2)"
     Site            510
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JIL4; propagated from
                     UniProtKB/Swiss-Prot (Q5T2W1.2)"
     Site            511
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JIL4; propagated from
                     UniProtKB/Swiss-Prot (Q5T2W1.2)"
     Site            512
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JIL4; propagated from
                     UniProtKB/Swiss-Prot (Q5T2W1.2)"
     Site            514
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JIL4; propagated from
                     UniProtKB/Swiss-Prot (Q5T2W1.2)"
     CDS             1..519
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
                     /coded_by="NM_001201325.2:55..1614"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS72860.1"
                     /db_xref="GeneID:5174"
                     /db_xref="HGNC:HGNC:8821"
                     /db_xref="MIM:603831"
ORIGIN      
        1 mtstfnprec klskqegqny gfflriekdt eghlvrvvek cspaekaglq dgdrvlring
       61 vfvdkeehmq vvdlvrksgn svtllvldgd syekavktrv dlkelgqsqk eqglsdnils
      121 pvmnggvqtw tqprlcylvk eggsygfslk tvqgkkgvym tditpqgvam ragvladdhl
      181 ievngenved asheevvekv kksgsrvmfl lvdketdkrh veqkiqfkre taslkllphq
      241 privemkkgs ngygfylrag seqkgqiikd idsgspaeea glknndlvva vngesvetld
      301 hdsvvemirk ggdqtsllvv dketdnmyrl ahfspflyyq sqelpngsvk eapaptptsl
      361 evssppdtte evdhkpklcr lakgengygf hlnairglpg sfikevqkgg padlaglede
      421 dviievngvn vldepyekvv driqssgknv tllvcgkkay dyfqakkipi vssladpldt
      481 ppdskegivv esnhdshmak erahstashs ssnsedtem
//
LOCUS       NP_001307904             298 aa            linear   PRI 17-MAR-2023
DEFINITION  cytochrome c oxidase assembly protein COX15 homolog isoform 3 [Homo
            sapiens].
ACCESSION   NP_001307904 XP_006717696
VERSION     NP_001307904.1
DBSOURCE    REFSEQ: accession NM_001320975.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 298)
  AUTHORS   Zhang C, Li N, Liu YY, Yuan T, Yang S and Wang XP.
  TITLE     Cox15 is a novel oncogene that required for lung cancer cell
            proliferation
  JOURNAL   Biochem Biophys Res Commun 578, 70-76 (2021)
   PUBMED   34547626
  REMARK    GeneRIF: Cox15 is a novel oncogene that required for lung cancer
            cell proliferation.
REFERENCE   2  (residues 1 to 298)
  AUTHORS   Halperin D, Drabkin M, Wormser O, Yogev Y, Dolgin V, Shorer Z,
            Gradstein L, Shelef I, Flusser H and Birk OS.
  TITLE     Phenotypic variability and mutation hotspot in COX15-related Leigh
            syndrome
  JOURNAL   Am J Med Genet A 182 (6), 1506-1512 (2020)
   PUBMED   32232962
  REMARK    GeneRIF: Phenotypic variability and mutation hotspot in
            COX15-related Leigh syndrome.
REFERENCE   3  (residues 1 to 298)
  AUTHORS   Malty RH, Aoki H, Kumar A, Phanse S, Amin S, Zhang Q, Minic Z,
            Goebels F, Musso G, Wu Z, Abou-Tok H, Meyer M, Deineko V, Kassir S,
            Sidhu V, Jessulat M, Scott NE, Xiong X, Vlasblom J, Prasad B,
            Foster LJ, Alberio T, Garavaglia B, Yu H, Bader GD, Nakamura K,
            Parkinson J and Babu M.
  TITLE     A Map of Human Mitochondrial Protein Interactions Linked to
            Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and
            NF-kappaB Signaling
  JOURNAL   Cell Syst 5 (6), 564-577 (2017)
   PUBMED   29128334
REFERENCE   4  (residues 1 to 298)
  AUTHORS   Swenson S, Cannon A, Harris NJ, Taylor NG, Fox JL and Khalimonchuk
            O.
  TITLE     Analysis of Oligomerization Properties of Heme a Synthase Provides
            Insights into Its Function in Eukaryotes
  JOURNAL   J Biol Chem 291 (19), 10411-10425 (2016)
   PUBMED   26940873
  REMARK    GeneRIF: Mutations of COX15 causing single amino acid conversions
            are associated with fatal infantile hypertrophic cardiomyopathy and
            the neurological disorder Leigh syndrome.
REFERENCE   5  (residues 1 to 298)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA
            and Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   6  (residues 1 to 298)
  AUTHORS   Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary
            SC, Kennaway NG and Shoubridge EA.
  TITLE     Mutations in COX15 produce a defect in the mitochondrial heme
            biosynthetic pathway, causing early-onset fatal hypertrophic
            cardiomyopathy
  JOURNAL   Am J Hum Genet 72 (1), 101-114 (2003)
   PUBMED   12474143
  REMARK    GeneRIF: Mutations in COX15 produce a defect in the mitochondrial
            heme biosynthetic pathway, causing early-onset fatal hypertrophic
            cardiomyopathy
REFERENCE   7  (residues 1 to 298)
  AUTHORS   Barros MH, Carlson CG, Glerum DM and Tzagoloff A.
  TITLE     Involvement of mitochondrial ferredoxin and Cox15p in hydroxylation
            of heme O
  JOURNAL   FEBS Lett 492 (1-2), 133-138 (2001)
   PUBMED   11248251
REFERENCE   8  (residues 1 to 298)
  AUTHORS   Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R and
            Zeviani M.
  TITLE     Identification and characterization of human cDNAs specific to
            BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the
            formation and function of the mitochondrial respiratory chain
  JOURNAL   Genomics 54 (3), 494-504 (1998)
   PUBMED   9878253
REFERENCE   9  (residues 1 to 298)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26425749
REFERENCE   10 (residues 1 to 298)
  AUTHORS   Kennaway NG, Carrero-Valenzuela RD, Ewart G, Balan VK, Lightowlers
            R, Zhang YZ, Powell BR, Capaldi RA and Buist NR.
  TITLE     Isoforms of mammalian cytochrome c oxidase: correlation with human
            cytochrome c oxidase deficiency
  JOURNAL   Pediatr Res 28 (5), 529-535 (1990)
   PUBMED   2175025
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133353.6.
            On Mar 12, 2016 this sequence version replaced XP_006717696.1.
            
            Summary: Cytochrome c oxidase (COX), the terminal component of the
            mitochondrial respiratory chain, catalyzes the electron transfer
            from reduced cytochrome c to oxygen. This component is a
            heteromeric complex consisting of 3 catalytic subunits encoded by
            mitochondrial genes and multiple structural subunits encoded by
            nuclear genes. The mitochondrially-encoded subunits function in
            electron transfer, and the nuclear-encoded subunits may function in
            the regulation and assembly of the complex. This nuclear gene
            encodes a protein which is not a structural subunit, but may be
            essential for the biogenesis of COX formation and may function in
            the hydroxylation of heme O, according to the yeast mutant studies.
            This protein is predicted to contain 5 transmembrane domains
            localized in the mitochondrial inner membrane. Alternative splicing
            of this gene generates two transcript variants diverging in the 3'
            region. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2614056.1,
                                           SRR14038191.3128072.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..298
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     Protein         1..298
                     /product="cytochrome c oxidase assembly protein COX15
                     homolog isoform 3"
                     /note="cytochrome c oxidase subunit 15; cytochrome c
                     oxidase assembly protein COX15 homolog; cytochrome c
                     oxidase assembly homolog 15; COX15 homolog, cytochrome c
                     oxidase assembly protein; COX15, cytochrome c oxidase
                     assembly homolog"
                     /calculated_mol_wt=33546
     Region          66..>278
                     /region_name="PTZ00127"
                     /note="cytochrome c oxidase assembly protein; Provisional"
                     /db_xref="CDD:240283"
     Site            68..88
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7KZN9.1)"
     Site            154..171
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7KZN9.1)"
     Site            184..204
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7KZN9.1)"
     Site            227..247
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7KZN9.1)"
     CDS             1..298
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; MC4DN6"
                     /coded_by="NM_001320975.2:79..975"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:1355"
                     /db_xref="HGNC:HGNC:2263"
                     /db_xref="MIM:603646"
ORIGIN      
        1 mqrllfpplr alkgrqylpl lapraapraq cdcirrplrp gqystiseva lqsgrgtvsl
       61 pskaaervvg rwllvcsgtv agavilggvt rltesglsmv dwhlikemkp ptsqeeweae
      121 fqryqqfpef kilnhdmtlt efkfiwymey shrmwgrlvg lvyilpaayf wrkgwlsrgm
      181 kgrvlalcgl vcfqgllgwy mvksgleeks dshdiprvsq yrlaahlgsa lvlycaslwt
      241 slslllpphk lpethqllql rrfahgtagl vfltalsgnh fshchysall plsensps
//
LOCUS       NP_001273378             316 aa            linear   PRI 18-MAR-2023
DEFINITION  testis-expressed protein 9 isoform 2 [Homo sapiens].
ACCESSION   NP_001273378 XP_005254419
VERSION     NP_001273378.1
DBSOURCE    REFSEQ: accession NM_001286449.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 316)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 316)
  AUTHORS   Xu F, Zhang S, Liu Z, Gu J, Li Y, Wang L, Mao W, Zhu Q, Shou H, Ge
            D and Lu C.
  TITLE     TEX9 and eIF3b functionally synergize to promote the progression of
            esophageal squamous cell carcinoma
  JOURNAL   BMC Cancer 19 (1), 875 (2019)
   PUBMED   31481019
  REMARK    GeneRIF: Testis-expressed protein 9 (TEX9) expression is positively
            associated with eukaryotic translation initiation factor 3 subunit
            b (eIF3b) expression in esophageal squamous cell carcinoma (ESCC).
            TEX9 expression is positively correlated with tumor-node-metastasis
            stage in ESCC. eIF3b binding to TEX9 mRNA functionally synergizes
            to promote the proliferation and migration, and inhibit the
            apoptosis of ESCC cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 316)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   4  (residues 1 to 316)
  AUTHORS   Gupta GD, Coyaud E, Goncalves J, Mojarad BA, Liu Y, Wu Q,
            Gheiratmand L, Comartin D, Tkach JM, Cheung SW, Bashkurov M,
            Hasegan M, Knight JD, Lin ZY, Schueler M, Hildebrandt F, Moffat J,
            Gingras AC, Raught B and Pelletier L.
  TITLE     A Dynamic Protein Interaction Landscape of the Human
            Centrosome-Cilium Interface
  JOURNAL   Cell 163 (6), 1484-1499 (2015)
   PUBMED   26638075
REFERENCE   5  (residues 1 to 316)
  AUTHORS   Goldstein JI, Jarskog LF, Hilliard C, Alfirevic A, Duncan L,
            Fourches D, Huang H, Lek M, Neale BM, Ripke S, Shianna K,
            Szatkiewicz JP, Tropsha A, van den Oord EJ, Cascorbi I, Dettling M,
            Gazit E, Goff DC, Holden AL, Kelly DL, Malhotra AK, Nielsen J,
            Pirmohamed M, Rujescu D, Werge T, Levy DL, Josiassen RC, Kennedy
            JL, Lieberman JA, Daly MJ and Sullivan PF.
  TITLE     Clozapine-induced agranulocytosis is associated with rare HLA-DQB1
            and HLA-B alleles
  JOURNAL   Nat Commun 5, 4757 (2014)
   PUBMED   25187353
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 316)
  AUTHORS   Weimann M, Grossmann A, Woodsmith J, Ozkan Z, Birth P, Meierhofer
            D, Benlasfer N, Valovka T, Timmermann B, Wanker EE, Sauer S and
            Stelzl U.
  TITLE     A Y2H-seq approach defines the human protein methyltransferase
            interactome
  JOURNAL   Nat Methods 10 (4), 339-342 (2013)
   PUBMED   23455924
REFERENCE   7  (residues 1 to 316)
  AUTHORS   Brandler WM, Morris AP, Evans DM, Scerri TS, Kemp JP, Timpson NJ,
            St Pourcain B, Smith GD, Ring SM, Stein J, Monaco AP, Talcott JB,
            Fisher SE, Webber C and Paracchini S.
  TITLE     Common variants in left/right asymmetry genes and pathways are
            associated with relative hand skill
  JOURNAL   PLoS Genet 9 (9), e1003751 (2013)
   PUBMED   24068947
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC068726.5 and AC084782.2.
            On Nov 6, 2013 this sequence version replaced XP_005254419.1.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 5' region and initiates translation at a downstream in-frame
            start codon, compared to variant 1. The encoded isoform (2) has a
            shorter N-terminus than isoform 1. Variants 2-8 all encode the same
            isoform (2).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK294960.1, SRR1660809.58759.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..316
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     Protein         1..316
                     /product="testis-expressed protein 9 isoform 2"
                     /note="testis-expressed sequence 9 protein;
                     testis-expressed protein 9"
                     /calculated_mol_wt=36428
     Region          <115..>273
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..316
                     /gene="TEX9"
                     /coded_by="NM_001286449.2:474..1424"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS66776.1"
                     /db_xref="GeneID:374618"
                     /db_xref="HGNC:HGNC:29585"
ORIGIN      
        1 mkscddeddy slrgllpseg ivhlhsetkp ktknidpvnk vqnklhsank grktnssvkl
       61 kysdvqtadd vaipedfsdf slaktiskie gqleeeglpe yiddifsgvs ndigteaqir
      121 flkaklhvmq eeldnvvcec nkkedeiqnl ksqvknfeed fmrqqrtinm qqsqvekykt
      181 lfeeankkyd glqqqlssve relenkrrlq kqaassqsat evrlnralee aekyklelsk
      241 lrqnnkdian eehkkievlk senkklekqk gelmigfkkq lklidvlkrq kmhieaakml
      301 sfteeefmka lewgns
//
LOCUS       NP_001338125             323 aa            linear   PRI 19-MAR-2023
DEFINITION  cytosolic purine 5'-nucleotidase isoform 6 [Homo sapiens].
ACCESSION   NP_001338125 XP_016871462
VERSION     NP_001338125.1
DBSOURCE    REFSEQ: accession NM_001351196.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 323)
  AUTHORS   Zhang W, Wang YD, Xing YJ, Liu PJ and Yang JH.
  TITLE     Silencing of circ-NT5C2 retards the progression of IL-1beta-induced
            osteoarthritis in an in vitro cell model by targeting the
            miR-142-5p/NAMPT axis
  JOURNAL   Microbiol Immunol 67 (3), 129-141 (2023)
   PUBMED   36540014
  REMARK    GeneRIF: Silencing of circ-NT5C2 retards the progression of
            IL-1beta-induced osteoarthritis in an in vitro cell model by
            targeting the miR-142-5p/NAMPT axis.
REFERENCE   2  (residues 1 to 323)
  AUTHORS   Fei X, Wu X, Dou YN, Sun K, Guo Q, Zhang L, Li S, Wei J, Huan Y, He
            X and Fei Z.
  TITLE     TRIM22 orchestrates the proliferation of GBMs and the benefits of
            TMZ by coordinating the modification and degradation of RIG-I
  JOURNAL   Mol Ther Oncolytics 26, 413-428 (2022)
   PUBMED   36159777
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 323)
  AUTHORS   Mei H, Yin B, Yang W, Zhang J, Lu H, Qi X, Mei W, Zhang H and Zhang
            J.
  TITLE     Associations between Gene-Gene Interaction and Overweight/Obesity
            of 12-Month-Old Chinese Infants
  JOURNAL   Biomed Res Int 2022, 1499454 (2022)
   PUBMED   35295960
  REMARK    GeneRIF: Associations between Gene-Gene Interaction and
            Overweight/Obesity of 12-Month-Old Chinese Infants.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 323)
  AUTHORS   Somazu S, Tanaka Y, Tamai M, Watanabe A, Kagami K, Abe M, Harama D,
            Shinohara T, Akahane K, Goi K, Sugita K, Moriyama T, Yang J, Goto
            H, Minegishi M, Iwamoto S, Takita J and Inukai T.
  TITLE     NUDT15 polymorphism and NT5C2 and PRPS1 mutations influence
            thiopurine sensitivity in acute lymphoblastic leukaemia cells
  JOURNAL   J Cell Mol Med 25 (22), 10521-10533 (2021)
   PUBMED   34636169
  REMARK    GeneRIF: NUDT15 polymorphism and NT5C2 and PRPS1 mutations
            influence thiopurine sensitivity in acute lymphoblastic leukaemia
            cells.
REFERENCE   5  (residues 1 to 323)
  AUTHORS   Wallden K, Stenmark P, Nyman T, Flodin S, Graslund S, Loppnau P,
            Bianchi V and Nordlund P.
  TITLE     Crystal structure of human cytosolic 5'-nucleotidase II: insights
            into allosteric regulation and substrate recognition
  JOURNAL   J Biol Chem 282 (24), 17828-17836 (2007)
   PUBMED   17405878
  REMARK    GeneRIF: Data describe the crystal structure of human cytosolic
            5'-nucleotidase II and discuss its allosteric regulation and
            substrate recognition.
REFERENCE   6  (residues 1 to 323)
  AUTHORS   Oka J, Matsumoto A, Hosokawa Y and Inoue S.
  TITLE     Molecular cloning of human cytosolic purine 5'-nucleotidase
  JOURNAL   Biochem Biophys Res Commun 205 (1), 917-922 (1994)
   PUBMED   7999131
REFERENCE   7  (residues 1 to 323)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   8  (residues 1 to 323)
  AUTHORS   Tozzi MG, Camici M, Pesi R, Allegrini S, Sgarrella F and Ipata PL.
  TITLE     Nucleoside phosphotransferase activity of human colon carcinoma
            cytosolic 5'-nucleotidase
  JOURNAL   Arch Biochem Biophys 291 (2), 212-217 (1991)
   PUBMED   1659319
REFERENCE   9  (residues 1 to 323)
  AUTHORS   Spychala J, Madrid-Marina V and Fox IH.
  TITLE     High Km soluble 5'-nucleotidase from human placenta. Properties and
            allosteric regulation by IMP and ATP
  JOURNAL   J Biol Chem 263 (35), 18759-18765 (1988)
   PUBMED   2848805
REFERENCE   10 (residues 1 to 323)
  AUTHORS   Yokota S, Oka J, Ozasa H and Itoh R.
  TITLE     Immunocytochemical localization of cytosol 5'-nucleotidase in
            chicken liver
  JOURNAL   J Histochem Cytochem 36 (8), 983-989 (1988)
   PUBMED   2839573
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB169780.1, DA223605.1,
            DA208418.1, DB178099.1, DB261846.1, AK291667.1, BC001595.1 and
            BU618027.1.
            On May 4, 2017 this sequence version replaced XP_016871462.1.
            
            Summary: This gene encodes a hydrolase that serves as an important
            role in cellular purine metabolism by acting primarily on inosine
            5'-monophosphate and other purine nucleotides. [provided by RefSeq,
            Oct 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.246122.1,
                                           SRR18074967.3214856.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.32-q24.33"
     Protein         1..323
                     /product="cytosolic purine 5'-nucleotidase isoform 6"
                     /EC_number="3.1.3.5"
                     /EC_number="3.1.3.99"
                     /EC_number="2.7.1.77"
                     /note="5'-nucleotidase (purine), cytosolic type B;
                     IMP-specific 5'-NT; high Km 5'-nucleotidase; spastic
                     paraplegia 45 (autosomal recessive); epididymis secretory
                     sperm binding protein; cytosolic IMP/GMP-specific
                     5'-nucleotidase; cytosolic nucleoside phosphotransferase
                     5'N"
                     /calculated_mol_wt=37049
     Region          <1..251
                     /region_name="5_nucleotid"
                     /note="5' nucleotidase family; cl17687"
                     /db_xref="CDD:450188"
     CDS             1..323
                     /gene="NT5C2"
                     /gene_synonym="cN-II; GMP; NT5B; PNT5; SPG45; SPG65"
                     /coded_by="NM_001351196.2:902..1873"
                     /note="isoform 6 is encoded by transcript variant 30"
                     /db_xref="GeneID:22978"
                     /db_xref="HGNC:HGNC:8022"
                     /db_xref="MIM:600417"
ORIGIN      
        1 mkevgkvfla tnsdykytdk imtylfdfph gpkpgsshrp wqsyfdlilv darkplffge
       61 gtvlrqvdtk tgklkigtyt gplqhgivys ggssdticdl lgakgkdily igdhifgdil
      121 kskkrqgwrt flvipelaqe lhvwtdkssl feelqsldif laelykhlds ssnerpdiss
      181 iqrrikkvth dmdmcygmmg slfrsgsrqt lfasqvmrya dlyaasfinl lyypfsylfr
      241 aahvlmphes tvehthvdin emesplatrn rtsvdfkdtd ykrhqltrsi seikppnlfp
      301 lapqeithch dedddeeeee eee
//
LOCUS       XP_047277587             728 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear valosin-containing protein-like isoform X12 [Homo sapiens].
ACCESSION   XP_047277587
VERSION     XP_047277587.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421631.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..728
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..728
                     /product="nuclear valosin-containing protein-like isoform
                     X12"
                     /calculated_mol_wt=80663
     Region          2..72
                     /region_name="Nucleolin_bd"
                     /note="Nucleolin binding domain; pfam16725"
                     /db_xref="CDD:435539"
     Region          <243..727
                     /region_name="CDC48"
                     /note="AAA family ATPase, CDC48 subfamily; TIGR01243"
                     /db_xref="CDD:273521"
     CDS             1..728
                     /gene="NVL"
                     /gene_synonym="NVL2"
                     /coded_by="XM_047421631.1:46..2232"
                     /db_xref="GeneID:4931"
                     /db_xref="HGNC:HGNC:8070"
                     /db_xref="MIM:602426"
ORIGIN      
        1 mkprpagfvd nklkqrviqy ltsnkcgkyv digvlasdlq rvysidygrr krnafriqve
       61 kvfsiissek elknlteled ehlakrarqg eedneytesy sdddssmedy pdpqsanhmn
      121 ssllslyrkg npdsvsntpe meqrettsst prissktgsi plktpakdse ggwfidktps
      181 vkkdsffldl sceksnpkkp iteiqdskds sllesdmkrk gklknkgskr kkedlqevdg
      241 eieavlqkka karglefqis nvkfedvggn dmtlkevckm lihmrhpevy hhlgvvpprg
      301 vllhgppgcg ktllahaiag eldlpilkva apeivsgvsg eseqklrelf eqavsnapci
      361 ifideidait pkrevaskdm errivaqllt cmddlnnvaa tarvlvigat nrpdsldpal
      421 rragrfdrei clgipdeasr erilqtlcrk lrlpqafdfc hlahltpgfv gadlmalcre
      481 aamcavnrvl mklqeqqkkn pemedlpskg vqeerlgtep tsetqdelqr llgllrdqdp
      541 lseeqmqglc ielndfival ssvqpsakre gfvtvpnvtw adigaledir eeltmailap
      601 vrnpdqfkal glvtpagvll agppgcgktl lakavanesg lnfisvkgpe llnmyvgese
      661 ravrqvfqra knsapcviff devdalcprr sdretgasvr vvnqlltemd glearqqvfi
      721 maatnrpg
//
LOCUS       XP_016857170             140 aa            linear   PRI 20-MAR-2023
DEFINITION  peflin isoform X3 [Homo sapiens].
ACCESSION   XP_016857170
VERSION     XP_016857170.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001681.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_016857170.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..140
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..140
                     /product="peflin isoform X3"
                     /calculated_mol_wt=13430
     CDS             1..140
                     /gene="PEF1"
                     /gene_synonym="ABP32; PEF1A"
                     /coded_by="XM_017001681.2:13..435"
                     /db_xref="GeneID:553115"
                     /db_xref="HGNC:HGNC:30009"
                     /db_xref="MIM:610033"
ORIGIN      
        1 masypyrqgc pgaagqapga ppgsyypgpp nsggqygsgl ppgggyggpa pggpygppag
       61 ggpyghpnpg mfpsgtpggp yggaapggpy gqpppssyga qqpglygqgi haegaapvwd
      121 mlslwqrega gelarmhnas
//
LOCUS       XP_047284276            1287 aa            linear   PRI 20-MAR-2023
DEFINITION  SCL-interrupting locus protein isoform X2 [Homo sapiens].
ACCESSION   XP_047284276
VERSION     XP_047284276.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428320.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1287
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1287
                     /product="SCL-interrupting locus protein isoform X2"
                     /calculated_mol_wt=142824
     Region          33..435
                     /region_name="STIL_N"
                     /note="SCL-interrupting locus protein N-terminus;
                     pfam15253"
                     /db_xref="CDD:434575"
     CDS             1..1287
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /coded_by="XM_047428320.1:256..4119"
                     /db_xref="GeneID:6491"
                     /db_xref="HGNC:HGNC:10879"
                     /db_xref="MIM:181590"
ORIGIN      
        1 mepiypfarp qmntrfpssr mvpfhfppsk calwnptptg dfiylhlsyy rnpklvvtek
       61 tirlayrhak qnkknsscfl lgsltadede egvtltvdrf dpgrevpecl eitptaslpg
      121 dflipckvht qelcsremiv hsvddfssal kalqchicsk dsldcgklls lrvhitsres
      181 ldsvefdlhw aavtlannfk ctpvkpipii ptalarnlss nlnisqvqgt ykygyltmde
      241 trkllllles dpkvyslplv giwlsgithi yspqvwaccl ryifnssvqe rvfsesgnfi
      301 ivlysmthke pefyecfpcd gkipdfrfql ltsketlhlf knveppdknp ircelsaesq
      361 naeteffska sknfsikrss qklssgkmpi hdhdsgvede dfsprpipsp hpvsqkiski
      421 qpsvpelslv ldgnfiesnp lptplemvnn enpplinhle hlkplqpqly dekhspevea
      481 gepslrgipn qlnqdkpall rhckvrqppa ykkgnphtrn sikpsshngp shdifeklqt
      541 vsagnvqnee ypirpstlns rqsslapqsq phdfvfsphn sgrpmelqip tpplpsycst
      601 nvcrccqhhs hiqysplnsw qgantvgsiq dvqsealqkh slfhpsgcpa lycnafcsss
      661 spialrpqgd mgscsphsni epspvarpps hmdlcnpqpc tvcmhtpkte sdngmmglsp
      721 dayrflteqd rqlrllqaqi qrlleaqslm pcspkttave dtvqagrqme lvsveaqssp
      781 glhmrkgvsi avstgaslfw naagedqepd sqmkqddtki ssedmnfsvd innevtslpg
      841 sasslkavdi psfeesniav eeefnqplsv snsslvvrke pdvpvffpsg qlaesvsmcl
      901 qtgptggasn nsetseepki ehvmqpllhq psdnqkiyqd llgqvnhlln sssketeqps
      961 tkaviishec trtqnvyhtk kkthhsrlvd kdcvlnatlk qlrslgvkid sptkvkknah
     1021 nvdhasvlac ispeavisgl ncmsfanvgm sglspngvdl smeanaialk ylnenqlsql
     1081 svtrsnqnnc dpfsllhint drstvglsli spnnmsfatk kymkrygllq ssdnsedeee
     1141 ppdnadskse yllnqnlrsi peqlggqkep skndheiinc sncesvgtna dtpvlrnitn
     1201 evlqtkakqq ltekpaflvk nlkpspavnl rtgkaeftqh pekenegdit ifpeslqpse
     1261 tlkqmnsmns vgtfldvkrl rqlpklf
//
LOCUS       XP_011540539             527 aa            linear   PRI 20-MAR-2023
DEFINITION  espin isoform X8 [Homo sapiens].
ACCESSION   XP_011540539
VERSION     XP_011540539.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011542237.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..527
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..527
                     /product="espin isoform X8"
                     /calculated_mol_wt=55889
     Region          39..67
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          41..127
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          69..101
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          103..135
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          108..202
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Site            order(137,139,143..144,147..149,151..152,156,159,169,171,
                     173,177..178,181..183,185..186,190,194,203,205,207,
                     211..212,215..217,219..220,224,227)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          137..169
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          171..203
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          210..302
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          239..269
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          271..302
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..527
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /coded_by="XM_011542237.1:181..1764"
                     /db_xref="GeneID:83715"
                     /db_xref="HGNC:HGNC:13281"
                     /db_xref="MIM:606351"
ORIGIN      
        1 maleqalqaa rqgeldvlrs lhaagllgps lrdpldalpv hhaaragklh clrflveeaa
       61 lpaaararng atpahdasat ghlaclqwll sqggcrvqdk dnsgatvlhl aarfghpevv
      121 nwllhhgggd ptaatdmgal pihyaaakgd fpslrllveh ypegvnaqtk ngatplylac
      181 qeghlevtqy lvqecgadph arahdgmtpl haaaqmghsp vivwlvsctd vslseqdkdg
      241 atamhfaasr ghtkvlswll lhggeisadl wggtplhdaa engeleccqi lvvngaeldv
      301 rdrdgytaad lsdfnghshc trylrtvenl svehrvlsrd psaeleakqp dsgmsspntt
      361 vsvqplnfdl ssptstlsny dscssshssi kgqhppcgls saraadiqsy mdmlnpelgl
      421 prgtigkptp pppppsfppp ppppgtqlpp pppgypapkp pvgpqaadiy mqtknklrhv
      481 etealkkepq aqsesvtqgr wlpggrcqwh gcggegwkeg ggkvsrh
//
LOCUS       XP_047280689             828 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 438 isoform X2 [Homo sapiens].
ACCESSION   XP_047280689
VERSION     XP_047280689.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424733.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..828
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..828
                     /product="zinc finger protein 438 isoform X2"
                     /calculated_mol_wt=91706
     Region          <98..364
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          507..529
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          509..529
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          535..558
                     /region_name="zf-C2H2_4"
                     /note="C2H2-type zinc finger; pfam13894"
                     /db_xref="CDD:433562"
     Region          537..557
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..828
                     /gene="ZNF438"
                     /gene_synonym="bA330O11.1"
                     /coded_by="XM_047424733.1:509..2995"
                     /db_xref="GeneID:220929"
                     /db_xref="HGNC:HGNC:21029"
ORIGIN      
        1 mqnsvsvppk degesnipsg tiqsrkglqn ksqfrtiapk ivpkvltsrm lpchspsrsd
       61 qvnlgpsins kllgmstqny almqvagqeg tfslvalphv asaqpiqkpr mslpenlklp
      121 ipryqpprns kasrkkpili fpksgcskap aqtqmcpqms pspphhpell ykpspfeevp
      181 sleqapasis taaltngsdh gdlrppvtnt hgslnppatp asstpeepak qdltalsgka
      241 hfvskitssk psavasekfk eqvdlaktmt nlsptilgna vqlissvpkg klpippysrm
      301 ktmevykiks daniagfslp gpkadcdkip sttegfnaat kvasrlpvpq vsqqsacesa
      361 fcpptkldln hktklnsgaa krkgrkrkvp deilafqgkr rkyiinkcrd gkervkndpq
      421 efrdqklgtl kkyrsimpkp imviptlasl aspttlqsqm lgglgqdvll nnsltpkylg
      481 ckqdnssspk pssvfrngfs gikkpwhrch vcnhhfqfkq hlrdhmntht nrrpyscric
      541 rksyvrpgsl sthmklhhge nrlkklmcce fcakvfghir vyfghlkevh rvvistepap
      601 selqpgdipk nrdmsvrgme gslerenksn leedfllnqa devklqikcg rcqitaqsfa
      661 eikfhlldvh geeiegrlqe gtfpgskgtq eelvqhaspd wkrhpergkp ekvhsssees
      721 hacprlkrql hlhqngveml menegpqsgt nkpretcqgp ecpglhtfll wshsgfncll
      781 caemlgrked llhhwkhqhn cedpsklwai lntvsnqgvi elsseaek
//
LOCUS       XP_047282479             432 aa            linear   PRI 20-MAR-2023
DEFINITION  steroid hormone receptor ERR1 isoform X2 [Homo sapiens].
ACCESSION   XP_047282479
VERSION     XP_047282479.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426523.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..432
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..432
                     /product="steroid hormone receptor ERR1 isoform X2"
                     /calculated_mol_wt=46282
     Region          83..178
                     /region_name="NR_DBD_ERR"
                     /note="DNA-binding domain of estrogen related receptors
                     (ERR) is composed of two C4-type zinc fingers; cd07170"
                     /db_xref="CDD:143544"
     Site            order(87,99..102,107..108,110..112,114..115,118,138..139,
                     142,145,159..160,163..170)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143544"
     Site            order(89,92,106,109,125,131,141,144)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143544"
     Region          206..429
                     /region_name="NR_LBD_ERR"
                     /note="The ligand binding domain of estrogen
                     receptor-related nuclear receptors; cd06946"
                     /db_xref="CDD:132744"
     Site            order(234,237,241,244,282,295,299,309..311,408,411,413)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:132744"
     Site            order(249,263,266..267,270..271,421..422,425..426)
                     /site_type="other"
                     /note="coactivator recognition site [polypeptide binding]"
                     /db_xref="CDD:132744"
     Site            345
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:132744"
     CDS             1..432
                     /gene="ESRRA"
                     /gene_synonym="ERR1; ERRa; ERRalpha; ESRL1; NR3B1"
                     /coded_by="XM_047426523.1:1273..2571"
                     /db_xref="GeneID:2101"
                     /db_xref="HGNC:HGNC:3471"
                     /db_xref="MIM:601998"
ORIGIN      
        1 mglsvqvtsa mssqvvgiep lyikaepasp dspkgssete teppvalapg paptrclpgh
       61 keeedgegag pgeqgggklv lsslpkrlcl vcgdvasgyh ygvasceack affkrtiqgs
      121 ieyscpasne ceitkrrrka cqacrftkcl rvgmlkegvr ldrvrggrqk ykrrpevdpl
      181 pfpgpfpagp lavaggprkt apvnalvshl lvvepeklya mpdpagpdgh lpavatlcdl
      241 fdreivvtis waksipgfss lslsdqmsvl qsvwmevlvl gvaqrslplq delafaedlv
      301 ldeegaraag lgelgaallq lvrrlqalrl ereeyvllka lalansdsvh iedaeaveql
      361 realhealle yeagragpgg gaerrragrl lltlpllrqt agkvlahfyg vklegkvpmh
      421 klflemleam md
//
LOCUS       XP_011543578             606 aa            linear   PRI 20-MAR-2023
DEFINITION  glycerophosphodiester phosphodiesterase domain-containing protein 5
            isoform X1 [Homo sapiens].
ACCESSION   XP_011543578
VERSION     XP_011543578.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011545276.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..606
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..606
                     /product="glycerophosphodiester phosphodiesterase
                     domain-containing protein 5 isoform X1"
                     /calculated_mol_wt=68526
     Region          227..577
                     /region_name="GDPD_GDE2"
                     /note="Glycerophosphodiester phosphodiesterase domain of
                     mammalian glycerophosphodiester phosphodiesterase GDE2 and
                     similar proteins; cd08608"
                     /db_xref="CDD:176550"
     Site            order(233,260,262,275,358,394,454)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:176550"
     Site            order(233,275)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:176550"
     Site            order(260,262,358)
                     /site_type="other"
                     /note="putative metal binding site [ion binding]"
                     /db_xref="CDD:176550"
     CDS             1..606
                     /gene="GDPD5"
                     /gene_synonym="GDE2; PP1665"
                     /coded_by="XM_011545276.3:907..2727"
                     /db_xref="GeneID:81544"
                     /db_xref="HGNC:HGNC:28804"
                     /db_xref="MIM:609632"
ORIGIN      
        1 mvrhqplqyy epqlclsclt giygcrwkry qrshddttpw erlwfllltf tfgltltwly
       61 fwwevhndyd efnwylynrm gywsdwpvpi lvttaaafay iagllvlalc hiavgqqmnl
      121 hwlhkiglvv ilastvvams avaqlwedew evllislqgt apflhvgava avtmlswiva
      181 gqfaraerts sqvtilctff tvvfalylap ltisspcime kkdlgpkpal ighrgapmla
      241 pehtlmsfrk aleqklyglq aditisldgv pflmhdttlr rttnveeefp elarrpasml
      301 nwttlqrlna gqwflktdpf wtasslspsd hreaqnqsic slaellelak gnatlllnlr
      361 dpprehpyrs sfinvtleav lhsgfpqhqv mwlpsrqrpl vrkvapgfqq tsgskeavas
      421 lrrghiqrln lrytqvsrqe lrdyaswnls vnlytvnapw lfsllwcagv psvtsdnsha
      481 lsqvpsplwi mppdeyclmw vtadlvsftl ivgifvlqkw rlggirsynp eqimlsaavr
      541 rtsrdvsimk eklifsaeis dgvevsdvls vcsdnsydty anstatpvgp rgggshtktl
      601 iersgr
//
LOCUS       XP_047285239             384 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA repair protein RAD52 homolog isoform X2 [Homo sapiens].
ACCESSION   XP_047285239
VERSION     XP_047285239.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429283.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..384
                     /product="DNA repair protein RAD52 homolog isoform X2"
                     /calculated_mol_wt=42531
     Region          38..199
                     /region_name="rad52"
                     /note="recombination protein rad52; TIGR00607"
                     /db_xref="CDD:129695"
     CDS             1..384
                     /gene="RAD52"
                     /coded_by="XM_047429283.1:311..1465"
                     /db_xref="GeneID:5893"
                     /db_xref="HGNC:HGNC:9824"
                     /db_xref="MIM:600392"
ORIGIN      
        1 msgteeailg grdshpaagg gsvlcfgqcq ytaeeyqaiq kalrqrlgpe yissrmaggg
       61 qkvcyieghr vinlanemfg yngwahsitq qnvdfvdlnn gkfyvgvcaf vrvqlkdgsy
      121 hedvgygvse glkskalsle karkeavtdg lkralrsfgn algncildkd ylrslnklpr
      181 qlplevdltk akrqdlepsv eearynscrp nmalghpqlq qvtspsrpsh avipadqdcs
      241 srslsssave seathqrklr qkqlqqqfre rmekqqvrvs tpsaekseet lednsekwav
      301 tpdagdgvvk pssradpaqt sdtlalnnqm vtqnrtphsv chqkpqaksg swdlqtysad
      361 qrttgnwesh rksqdmkkrk ydps
//
LOCUS       XP_024304893             877 aa            linear   PRI 20-MAR-2023
DEFINITION  splicing factor, suppressor of white-apricot homolog isoform X2
            [Homo sapiens].
ACCESSION   XP_024304893
VERSION     XP_024304893.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024449125.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..877
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..877
                     /product="splicing factor, suppressor of white-apricot
                     homolog isoform X2"
                     /calculated_mol_wt=95786
     Region          83..136
                     /region_name="SWAP"
                     /note="Suppressor-of-White-APricot splicing regulator;
                     smart00648"
                     /db_xref="CDD:197818"
     Region          331..382
                     /region_name="SWAP"
                     /note="Suppressor-of-White-APricot splicing regulator;
                     smart00648"
                     /db_xref="CDD:197818"
     Region          <511..592
                     /region_name="rpsP"
                     /note="30S ribosomal protein S16; Provisional; PRK14521"
                     /db_xref="CDD:237744"
     CDS             1..877
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /coded_by="XM_024449125.1:3095..5728"
                     /db_xref="GeneID:6433"
                     /db_xref="HGNC:HGNC:10790"
                     /db_xref="MIM:601945"
ORIGIN      
        1 mkreeeykrl sealaedgsy navgftygsd yydpseptee eepskqrekn eaenleenee
       61 pfvaplglsv psdvelppta kmhaiierta sfvcrqgaqf eimlkakqar nsqfdflrfd
      121 hylnpyykfi qkamkegryt vlaenksdek kksgvssdne ddddeedgny lhpslfaskk
      181 cnrleelmkp lkvvdpdhpl aalvrkaqad sstptphnad gapvqpsqve ytadstvaam
      241 yysyymlpdg tyclappppg idvttyystl pagvtvsnsp gvtttapppp gttplppptt
      301 aetssgatst ttttsalapv aaiippppdv qpvidklaey varnglkfet svrakndqrf
      361 eflqpwhqyn ayyefkkqff lqkeggdsmq avsapeeapt dsapekpsda gedgapedaa
      421 evgaragsgg kkeasssktv pdgklvkasf apisfaikak endllplekn rvkldddsdd
      481 deeskegqes sssaantnpa vappcvvvee kkpqltqeel eakqakqkle drlaaaarek
      541 laqaskeske kqlqaerkrk aalflqtlkn plpeaeagki eespfsvees sttpcplltg
      601 grplptlevk ppdrpssksk dppreeekek kkkkhkkrsr trsrspkyhs ssksrsrshs
      661 kakhslpsay rtvrrsrvta spgtlraepc qssasvtaaa epgsyqaast ttrfdsassf
      721 egkpgktsrs rsrsprrrah sperrreers vptayrvsrs pgasrkrtrs rsphekkkkr
      781 rsrsrtkska rsqsvspskq aaprpaapaa hsahsasvsp vesrgssqer srgvsqekea
      841 qissaivssv qskitqdlma kvramlaask nlqtsas
//
LOCUS       XP_016875472            2475 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 290 kDa isoform X14 [Homo sapiens].
ACCESSION   XP_016875472
VERSION     XP_016875472.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019983.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2475
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..2475
                     /product="centrosomal protein of 290 kDa isoform X14"
                     /calculated_mol_wt=289730
     Region          148..>846
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     Region          517..1268
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          1075..1882
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          1282..1409
                     /region_name="CEP209_CC5"
                     /note="Coiled-coil region of centrosome protein CE290;
                     pfam16574"
                     /db_xref="CDD:435439"
     Region          1633..2389
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..2475
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /coded_by="XM_017019983.3:217..7644"
                     /db_xref="GeneID:80184"
                     /db_xref="HGNC:HGNC:29021"
                     /db_xref="MIM:610142"
ORIGIN      
        1 mppninwkei mkvdpddlpr qeeladnlli slskvevnel ksekqenvih lfritqslmk
       61 mkaqevelal eevekageeq akfenqlktk vmklenelem aqqsaggrdt rflrneicql
      121 ekqleqkdre ledmekelek ekkvneqlal rneeaenens klrreneqlc qdiidyqkqi
      181 dsqketllsr rgedsdyrsq lskknyeliq yldeiqtlte anekievqnq emrknleesv
      241 qemekmtdey nrmkaivhqt dnvidqlkke ndhyqlqvqe ltdllkskne eddpimvavn
      301 akveewklil sskddeiiey qqmlhnlrek lknaqldadk snvmalqqgi qerdsqikml
      361 teqveqytke mekntciied lknelqrnkg astlsqqthm kiqstldilk ektkeaerta
      421 elaeadarek dkelvealkr lkdyesgvyg ledavveikn cknqikirdr eieiltkein
      481 klelkisdfl denealrerv glepktmidl tefrnskhlk qqqyraenqi llkeieslee
      541 erldlkkkir qmaqergkrs atsglttedl nltenisqgd riserkldll slknmseaqs
      601 kneflsreli ekerdlersr tviakfqnkl kelveenkql eegmkeilqa ikemqkdpdv
      661 kggetsliip slerlvnaie sknaegifda slhlkaqvdq ltgrneelrq elresrkeai
      721 nysqqlakan lkidhleket sllrqsegsn vvfkgidlpd giapssasii nsqneylihl
      781 lqelenkekk lknledsled ynrkfavirh qqsllykeyl seketwktes ktikeekrkl
      841 edqvqqdaik vkeynnllna lqmdsdemkk ilaensrkit vlqvneksli rqyttlvele
      901 rqlrkenekq knellsmeae vcekigclqr fkemaifkia alqkvvdnsv slselelank
      961 qyneltakyr dilqkdnmlv qrtsnlehle cenislkeqv esinkeleit keklhtieqa
     1021 weqetklgne ssmdkakksi tnsdivsisk kitmlemkel nerqraehcq kmyehlrtsl
     1081 kqmeernfel etkfaeltki nldaqkveqm lrdeladsvs kavsdadrqr ilelekneme
     1141 lkvevsklre isdiarrqve ilnaqqqsrd keveslrmql ldyqaqsdek sliaklhqhn
     1201 vslqlseata lgklesitsk lqkmeaynlr leqkldekeq alyyarlegr nrakhlrqti
     1261 qslrrqfsga lplaqqekfs ktmiqlqndk lkimqemkns qqehrnmenk tlemelklkg
     1321 leelistlkd tkgaqkvinw hmkieelrlq elklnrelvk dkeeikylnn iiseyertis
     1381 sleeeivqqn kfheerqmaw dqrevdlerq ldifdrqqne ilnaaqkfee atgsipdpsl
     1441 plpnqleial rkikenirii letratcksl eeklkekesa lrlaeqnils rdkvinelrl
     1501 rlpataerek liaelgrkem epkshhtlki ahqtianmqa rlnqkeevlk kyqrllekar
     1561 eeqreivkkh eedlhilhhr lelqadssln kfkqtawdlm kqsptpvptn khfirlaeme
     1621 qtvaeqddsl ssllvklkkv sqdlerqrei telkvkefen iklqlqenhe devkkvkaev
     1681 edlkylldqs qkesqclkse lqaqkeansr aptttmrnlv erlksqlalk ekqqkalsra
     1741 llelraemta aaeeriisat sqkeahlnvq qivdrhtrel ktqvedlnen llklkealkt
     1801 sknrensltd nlndlnnelq kkqkaynkil rekeeidqen delkrqikrl tsglqgkplt
     1861 dnkqslieel qrkvkklenq legkveevdl kpmkeknake elirweegkk wqakiegirn
     1921 klkekegevf tltkqlntlk dlfakadkek ltlqrklktt gmtvdqvlgi ralesekele
     1981 elkkrnldle ndilymrahq alprdsvved lhlqnrylqe klhalekqfs kdtyskpsqn
     2041 qisgiesddh cqreqelqke nlklssenie lkfqleqank dlprlknqvr dlkemceflk
     2101 kekaevqrkl ghvrgsgrsg ktipelekti glmkkvvekv qreneqlkka sgiltsekma
     2161 nieqeneklk aeleklkahl ghqlsmhyes ktkgtekiia enerlrkelk ketdaaeklr
     2221 iaknnleiln ekmtvqleet gkrlqfaesr gpqlegadsk swksivvtrm yetklkelet
     2281 diakknqsit dlkqlvkeat ereqkvnkyn edleqqikil khvpegaete qglkrelqvl
     2341 rlanhqldke kaelihqiea nkdqsgaest ipdadqlkek ikdletqlkm sdlekqhlke
     2401 eikklkkele nfdpsffeei edlkynykee vkknilleek vkklseqlgv eltspvaase
     2461 efedeeespv nfpiy
//
LOCUS       XP_047285800            1064 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin-protein ligase E3B isoform X2 [Homo sapiens].
ACCESSION   XP_047285800
VERSION     XP_047285800.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429844.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1064
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1064
                     /product="ubiquitin-protein ligase E3B isoform X2"
                     /calculated_mol_wt=121890
     Region          682..1004
                     /region_name="HECTc"
                     /note="HECT domain; C-terminal catalytic domain of a
                     subclass of Ubiquitin-protein ligase (E3). It binds
                     specific ubiquitin-conjugating enzymes (E2), accepts
                     ubiquitin from E2, transfers ubiquitin to substrate lysine
                     side chains, and transfers additional...; cd00078"
                     /db_xref="CDD:238033"
     Site            order(826,829..830,832..833,836,843,845,849..850,852,857,
                     862,879,883)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..1064
                     /gene="UBE3B"
                     /gene_synonym="BPIDS; KOS"
                     /coded_by="XM_047429844.1:604..3798"
                     /db_xref="GeneID:89910"
                     /db_xref="HGNC:HGNC:13478"
                     /db_xref="MIM:608047"
ORIGIN      
        1 mftlsqtsra wfidrarqar eerlvqkere raavviqahv rsflcrsrlq rdirreiddf
       61 fkaddpestk rsalcifkia rkllflfrik ednerfeklc rsilssmdae nepkvwyvsl
      121 acskdltllw iqqiknilwy ccdflkqlkp eilqdsrlit lyltmlvtft dtstwkilrg
      181 kgeslrpamn hicanimghl nqhgfysvlq illtrglarp rpclskgtlt aafslalrpv
      241 iaaqfsdnli rpflihimsv palvthlstv tperltvles hdmlrkfiif lrdqdrcrdv
      301 ceslegchtl clmgnllhlg slsprvleee tdgfvslltq tlcycrkyvs qkksnlthwh
      361 pvlgwfsqsv dyglnesmhl itkqlqflwg vpliriffcd ilskkllesq epahaqpasp
      421 qnvlpvksll krafqksasv rnilrpvggk rvdsaevqkv cnicvlyqts lttltqirlq
      481 iltgltyldd llpklwafic elgphgglkl fleclnndte eskqllamlm lfcdcsrhli
      541 tilddievye eqisfkleel vtissflnsf vfkmiwdgiv enakgetlel fqsvhgwlmv
      601 lyerdcrrrf tpedhwlrkd lkpsvlfqel drdrkraqli lqyiphviph knrvllfrtm
      661 vtkekeklgl vetssasphv thitirrsrm ledgyeqlrq lsqhamkgvi rvkfvndlgv
      721 deagidqdgv fkefleeiik rvfdpalnlf kttsgderly psptsyihen ylqlfefvgk
      781 mlgkavyegi vvdvpfasff lsqllghhhs vfyssvdelp sldsefyknl tsikrydgdi
      841 tdlgltlsyd edvmgqlvch elipggktip vtnenkisyi hlmahfrmht qiknqtaali
      901 sgfrsiikpe wirmfstpel qrlisgdnae idledlkkht vyyggfhgsh rviiwlwdil
      961 asdftpdera mflkfvtscs rppllgfayl kppfsircve vsddqqgrql dpsepseegp
     1021 tvltagepas pretahglsp lsaapfsflp qgrvpgvgvg tccf
//
LOCUS       XP_047290420             342 aa            linear   PRI 20-MAR-2023
DEFINITION  dipeptidase 2 isoform X9 [Homo sapiens].
ACCESSION   XP_047290420
VERSION     XP_047290420.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434464.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..342
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..342
                     /product="dipeptidase 2 isoform X9"
                     /calculated_mol_wt=37187
     Region          79..>306
                     /region_name="Peptidase_M19"
                     /note="Membrane dipeptidase (Peptidase family M19);
                     pfam01244"
                     /db_xref="CDD:395996"
     Site            order(89,91,260,282)
                     /site_type="active"
                     /db_xref="CDD:238617"
     CDS             1..342
                     /gene="DPEP2"
                     /gene_synonym="MBD2"
                     /coded_by="XM_047434464.1:183..1211"
                     /db_xref="GeneID:64174"
                     /db_xref="HGNC:HGNC:23028"
                     /db_xref="MIM:609925"
ORIGIN      
        1 mqpsglegpg tfgrwpllsl lllllllqpv tcayttpgpp ralttlgapr ahtmpgtyap
       61 sttlsspstq glqeqaralm rdfplvdghn dlplvlrqvy qkglqdvnlr nfsygqtsld
      121 rlrdglvgaq fwsayvpcqt qdrdalrltl eqidlirrmc asyselelvt sakalndtqk
      181 lacligvegg hsldnslsil rtfymlgvry ltlthtcntp waessakgvh sfynnisglt
      241 dfgekvvaem nrlgmmvdls hvsdavarra levsqapvif shsaargvcn sarnvpddil
      301 qllitsttsr lsldpsssgl veimmgpans lrgwktcpht rs
//
LOCUS       XP_047291111             205 aa            linear   PRI 20-MAR-2023
DEFINITION  GRB2-related adapter protein isoform X2 [Homo sapiens].
ACCESSION   XP_047291111
VERSION     XP_047291111.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435155.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..205
                     /product="GRB2-related adapter protein isoform X2"
                     /calculated_mol_wt=21977
     Region          2..55
                     /region_name="SH3_GRAP_N"
                     /note="N-terminal Src homology 3 domain of GRB2-related
                     adaptor protein; cd11948"
                     /db_xref="CDD:212881"
     Site            order(6..9,12..13,16,35..36,49..52)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212881"
     Region          56..>101
                     /region_name="SH2"
                     /note="Src homology 2 (SH2) domain; cl15255"
                     /db_xref="CDD:449520"
     CDS             1..205
                     /gene="GRAP"
                     /gene_synonym="DFNB114"
                     /coded_by="XM_047435155.1:253..870"
                     /db_xref="GeneID:10750"
                     /db_xref="HGNC:HGNC:4562"
                     /db_xref="MIM:604330"
ORIGIN      
        1 mesvalysfq atesdelafn kgdtlkilnm eddqnwykae lrgvegfipk nyirvkphpw
       61 ysgrisrqla eeilmkrnhl gaflireses spgefsvsvn hlgpalprps ltsqprtprs
      121 sasavatslr swsaqtptgg gagpagalas shgvtcspct ceqpggrsgq raflqelrsr
      181 edmdtpssvr vtrgsvdglg lnvgs
//
LOCUS       XP_047292230            1384 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-dependent kinase 12 isoform X5 [Homo sapiens].
ACCESSION   XP_047292230
VERSION     XP_047292230.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436274.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1384
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1384
                     /product="cyclin-dependent kinase 12 isoform X5"
                     /calculated_mol_wt=153016
     Region          719..1020
                     /region_name="STKc_CDK12"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Cyclin-Dependent protein Kinase 12; cd07864"
                     /db_xref="CDD:270847"
     Site            order(733..736,741,754,756,773,787,813..816,819,821..822,
                     859,861,863..864,866,877,880,893,895..898,900,938..939)
                     /site_type="active"
                     /db_xref="CDD:270847"
     Site            order(733..736,741,754,756,787,813..816,819,822,863..864,
                     866,877)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270847"
     Site            order(765..767,769,772,776,779,789..792,794,809)
                     /site_type="other"
                     /note="CDK/cyclin interface [polypeptide binding]"
                     /db_xref="CDD:270847"
     Site            order(773,821,859,861,880,893,895..898,900,938..939)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270847"
     Site            order(876..888,890..900)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270847"
     CDS             1..1384
                     /gene="CDK12"
                     /gene_synonym="CRK7; CRKR; CRKRS"
                     /coded_by="XM_047436274.1:587..4741"
                     /db_xref="GeneID:51755"
                     /db_xref="HGNC:HGNC:24224"
                     /db_xref="MIM:615514"
ORIGIN      
        1 mpnserhggk kdgsggasgt lqpssgggss nsrerhrlvs khkrhkskhs kdmglvtpea
       61 aslgtvikpl veyddissds dtfsddmafk ldrrenderr gsdrsdrlhk hrhhqhrrsr
      121 dllkakqtek eksqevssks gsmkdrisgs skrsneetdd ygkaqvakss skesrssklh
      181 kektrkerel ksghkdrsks hrkretpksy ktvdspkrrs rsphrkwsds skqddspsga
      241 sygqdydlsp srshtssnyd sykkspgsts rrqsvsppyk epsayqsstr spspysrrqr
      301 svspysrrrs ssyersgsys grspspygrr rssspflskr slsrsplpsr ksmksrsrsp
      361 aysrhssshs kkkrsssrsr hssispvrlp lnsslgaels rkkkeraaaa aaakmdgkes
      421 kgspvflprk enssveakds gleskklprs vkleksapdt elvnvthlnt evknssdtgk
      481 vkldensekh lvkdlkaqgt rdskpialke eivtpketet seketppplp tiaspppplp
      541 tttpppqtpp lpplppipal pqqpplppsq pafsqvpass tstlppsths ktsavssqan
      601 sqppvqvsvk tqvsvtaaip hlktstlppl plppllpgdd dmdspketlp skpvkkekeq
      661 rtrhlltdlp lppelpggdl sppdspepka itppqqpykk rpkiccpryg errqtesdwg
      721 krcvdkfdii giigegtygq vykakdkdtg elvalkkvrl dnekegfpit aireikilrq
      781 lihrsvvnmk eivtdkqdal dfkkdkgafy lvfeymdhdl mgllesglvh fsedhiksfm
      841 kqlmegleyc hkknflhrdi kcsnillnns gqikladfgl arlynseesr pytnkvitlw
      901 yrppelllge erytpaidvw scgcilgelf tkkpifqanl elaqlelisr lcgspcpavw
      961 pdviklpyfn tmkpkkqyrr rlreefsfip saaldlldhm ltldpskrct aeqtlqsdfl
     1021 kdvelskmap pdlphwqdch elwskkrrrq rqsgvvveep ppsktsrket tsgtstepvk
     1081 nsspappqpa pgkvesgagd aigladitqq lnqselavll nllqsqtdls ipqmaqllni
     1141 hsnpemqqql ealnqsisal teatsqqqds etmapeeslk eapsapvilp saeqttleas
     1201 stpadmqnil avllsqlmkt qepagsleen nsdknsgpqg prrtptmpqe eaaekrppep
     1261 pgpppppppp plvegdlssa pqelnpavta allqllsqpe aeppghlphe hqalrpmeys
     1321 trprpnrtyg ntdgpetgfs aidtdernsg palteslvqt lvknrtfsgs lshlgesssy
     1381 qgtg
//
LOCUS       XP_047292282             521 aa            linear   PRI 20-MAR-2023
DEFINITION  MBT domain-containing protein 1 isoform X12 [Homo sapiens].
ACCESSION   XP_047292282
VERSION     XP_047292282.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436326.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..521
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..521
                     /product="MBT domain-containing protein 1 isoform X12"
                     /calculated_mol_wt=57988
     Region          192..294
                     /region_name="MBT_MBTD1_rpt1"
                     /note="first malignant brain tumor (MBT) repeat found in
                     MBT domain-containing protein 1 (MBTD1); cd20120"
                     /db_xref="CDD:439110"
     Site            order(205,208,214,216,232,235,241)
                     /site_type="other"
                     /note="putative methyllysine peptide binding site
                     [polypeptide binding]"
                     /db_xref="CDD:439110"
     Site            order(255..256,259..260,262..265,279,282..283,286..294)
                     /site_type="other"
                     /note="Pho/YY1 spacer binding site [polypeptide binding]"
                     /db_xref="CDD:439110"
     Region          295..379
                     /region_name="MBT_MBTD1_rpt2"
                     /note="second malignant brain tumor (MBT) repeat found in
                     MBT domain-containing protein 1 (MBTD1); cd20123"
                     /db_xref="CDD:439113"
     Site            order(318,321,324,326,342,345,350)
                     /site_type="other"
                     /note="putative methyllysine peptide binding site
                     [polypeptide binding]"
                     /db_xref="CDD:439113"
     Region          407..484
                     /region_name="MBT"
                     /note="malignant brain tumor (MBT) repeat; cl45897"
                     /db_xref="CDD:459242"
     Site            order(417,420,423,425,442,445,452)
                     /site_type="other"
                     /note="putative methyllysine peptide binding site
                     [polypeptide binding]"
                     /db_xref="CDD:439080"
     CDS             1..521
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /coded_by="XM_047436326.1:195..1760"
                     /db_xref="GeneID:54799"
                     /db_xref="HGNC:HGNC:19866"
                     /db_xref="MIM:618705"
ORIGIN      
        1 mentkdlteh ssrserkrrd sfgmfdgyds csedtsssss seeseeevap lpsnlpiikn
       61 ngqvytypdg ksgmatcemc gmvgvrdafy sktkrfcsvs csrsyssnsk kasilarlqg
      121 kpptkkakvl qkqplvakla ayaqyqatlq nqaktkaavs megfswgnyi nsnsfiaapv
      181 tcfkhapmgt cwgdisenvr vevpntdcsl ptkvfwiagi vklagynall ryegfendsg
      241 ldfwcnicgs dihpvgwcaa sgkplvpprt iqhkytnwka flvkrltgak tlppdfsqkv
      301 sesmqypfkp cmrvevvdkr hlcrtrvavv esviggrlrl vyeesedrtd dfwchmhspl
      361 ihhigwsrsi ghrfkrsdit kkqdghfdtp phlfakvkev dqsgewfkeg mkleaidpln
      421 lsticvatir kvladgflmi gidgseaadg sdwfcyhats psifpvgfce inmieltppr
      481 gcsksriscr neirssrshg atfnmcshsn snysssledt f
//
LOCUS       XP_047292746            2276 aa            linear   PRI 20-MAR-2023
DEFINITION  myosin XVB isoform X14 [Homo sapiens].
ACCESSION   XP_047292746
VERSION     XP_047292746.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436790.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2276
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..2276
                     /product="myosin XVB isoform X14"
                     /calculated_mol_wt=251537
     Region          11..562
                     /region_name="Motor_domain"
                     /note="Myosin and Kinesin motor domain; cl22853"
                     /db_xref="CDD:451428"
     Site            order(36..43,81..82,274..279)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276814"
     Region          778..880
                     /region_name="MyTH4"
                     /note="MyTH4 domain; pfam00784"
                     /db_xref="CDD:425869"
     Region          1567..1661
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          1665..1719
                     /region_name="SH3_MYO15B"
                     /note="Src Homology 3 domain of Myosin XVb; cd12068"
                     /db_xref="CDD:213001"
     Site            order(1670,1672,1675,1679,1699..1700,1713,1715..1716)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:213001"
     Region          1823..1961
                     /region_name="MyTH4"
                     /note="Domain in Myosin and Kinesin Tails; smart00139"
                     /db_xref="CDD:214535"
     Region          1977..2173
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          2169..2270
                     /region_name="FERM_C_MyoXV"
                     /note="FERM domain C-lobe of Myosin XV (MyoXV/Myo15);
                     cd13201"
                     /db_xref="CDD:270022"
     Site            order(2177,2198,2200,2208)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270022"
     Site            order(2212,2217..2220,2259,2263,2266..2267)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270022"
     Site            2259..2270
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270022"
     CDS             1..2276
                     /gene="MYO15B"
                     /gene_synonym="MYO15BP"
                     /coded_by="XM_047436790.1:1669..8499"
                     /db_xref="GeneID:80022"
                     /db_xref="HGNC:HGNC:14083"
ORIGIN      
        1 msgnllislr hifaivasay dlaqntgqdp cillcghsgs gkteaakkim qflssleqdq
       61 tgnrecqved mlpilssfgh aktilnanas rfgqvfclyl qqgvivgasv shylletsrv
      121 vfqgqacrlq gkedaqdfeg llkalqglgl cpeelnavwa vlaailqlgn icfssseres
      181 qevaavsswa eihtaarllr vppeclegav trrvtetpyg qvsrslpves afdardalak
      241 alysrlfhrl lrrtnarlap pgeggsigtv tvvdaygfea lrvngleqlc nnlaserlql
      301 fssqmllaqe eeecrrells wvpvpqppre scldllvdqp hsllsildaq twlsqatdht
      361 flqkshyhhg dhpsyakprl plpvftvrhy agtvtyqvhk flnrnrdqld pavvemlgqs
      421 qlqlvgslfq eaepqsrggr grptlasrfq qaledliarl grshvyfiqc ltpnpgklpg
      481 lfdvghvteq lhqaaileav gtrsanfpvr vpfeaflasf qalgsegqed lsdrekcgav
      541 lsqvlgaesp lyhlgatkvl lqeqgwqrle elrdqqrsqa lvdlhrsfht cisrqrvlpr
      601 mqarmrgfqa rkrylrrraa lgqlntillv aqpllqrrqr lqlgrwqgwh sseralervp
      661 smelgrleip aelavmlkta eshrdalags iteclppevp arpsltlpad idlfpfssfv
      721 aigfqepslp rpgqplakpl tqldgdnpqr aldinkvmlr llgdgslesw qrqimgaylv
      781 rqgqcrpglr nelfsqlvaq lwqnpdeqqs qrgwalmavl lsafpplpvl qkpllkfvsd
      841 qaprgmaalc qhkllgaleq sqlasgatra hpptqlewla gwrrgrmald vftfseecys
      901 aeveswttge qlagwilqsr gleapprgws vslhsrdawq dlagcdfvld lisqtedlgd
      961 parprsypit plgsaeaipl apgiqapslp pgpppgpapt lpsrdhtgev qrsgsldgfl
     1021 dqifqpviss glsdleqswa lssrmkggga igptqqgypm vypgmiqmpa yqpgmvpapm
     1081 pmmpamgtvp ampamvvppq pplpsldagq lavqqqnfiq qqalilaqqm taqamslsle
     1141 qqmqqrqqqa raseaasqas psavtskprk pptppekpqr dlgseggclr etseeaedrp
     1201 yqpksfqqkr nyfqrmgqpq itvrtmkppa kvhipqgeaq eeeeeeeeee eqeeqevetr
     1261 avpspppppi vkkplkqgga kapkeaeaep aketaakghg qgpaqgrgtv vrssdskpkr
     1321 pqpsreigni irmyqsrpgp vpvpvqpsrp pkaflrkidp kdealaklgi ngahssppml
     1381 spspgkgppp avaprpkapl qlgpsssike kqgplldlfg qklpiahtpp pppapplplp
     1441 edpgtlsaer rcltqpvedq gvstqllaps gsvcfsytgt pwklflrkev fyprenfshp
     1501 yylrllceqi lrdtfsesci risqnerrkm kdllgglevd ldslttteds vkkrivvaar
     1561 dnwanyfsrf fpvsgesgsd vqllavshrg lrllkvtqgp glrpdqlkil csysfaevlg
     1621 vecrggstle lslkseqlvl htararaiea lvelflnelk kdsgyvialr syitdncsll
     1681 sfhrgdlikl lpvatlepgw qfgsaggrsg lfpadivqpa aapdfsfske qrsgwhkgql
     1741 sngepglarw draserpahp wsqahsddse atslssvaya flpdshsytm qefarryfrr
     1801 sqallgqtdg gaagkdtdsl vqytkapiqe sllslsddvs klavasflal mrfmgdqskp
     1861 rgkdemdlly ellklcqqek lrdeiycqvi kqvtghprpe hctrgwsfls lltgffppst
     1921 rlmpyltkfl qdsgpsqela rssqehlqrt vkyggrrrmp ppgemkaflk gqairlllih
     1981 lpggvdyrtn iqtftvaaev qeelcrqmgi tepqevqefa lflikeksql vrplqpaeyl
     2041 nsvvvdqdvs lhsrrlhwet plhfdnstyi sthysqvlwd ylqgklpvsa kadaqlarla
     2101 alqhlskanr ntpsgqdlla yvpkqlqrqv ntasiknlmg qelrrleghs pqeaqisfie
     2161 amsqlplfgy tvygvlrvsm qalsgptllg lnrqhlilmd pssqslycri alkslqrlhl
     2221 lspleekgpp glevnygsad npqtiwfelp qaqellyttv flidssasct ewpsin
//
LOCUS       XP_047293659            2553 aa            linear   PRI 20-MAR-2023
DEFINITION  ectopic P granules protein 5 homolog isoform X7 [Homo sapiens].
ACCESSION   XP_047293659
VERSION     XP_047293659.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437703.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2553
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..2553
                     /product="ectopic P granules protein 5 homolog isoform X7"
                     /calculated_mol_wt=289335
     CDS             1..2553
                     /gene="EPG5"
                     /gene_synonym="HEEW1; KIAA1632; VICIS"
                     /coded_by="XM_047437703.1:91..7752"
                     /db_xref="GeneID:57724"
                     /db_xref="HGNC:HGNC:29331"
                     /db_xref="MIM:615068"
ORIGIN      
        1 maeavkpqrr akakasrtkt kekkkyetpq reessevslp ktsreqeips lacefkgdhl
       61 kvvtdsqlqd dasgqnesem fdvpltslti sneesltcnt eppkeggear pcvgdsavtp
      121 kvhpgdnvgt kvetpknfte veenmsvqgg lsesapqsnf sytqpameni qvretqnske
      181 dkqglvcsse vpqnvglqss cpakhgfqtp rvkklypqlp aeiageapal vavkpllrse
      241 rlypelpsql elvpftkeql kilepgswle nvesyleefd smahqdrhef yelllnysrc
      301 rkqlllaeae lltltsdcqn aksrlwqfke eqmsvqgica dqvkvfsyhr yqrvemnena
      361 lvelkklfda ksehlhqtla lhsytsvlsr lqvesyiyal lsssavlrss aihqqgrask
      421 qtesipsdlc qlkecisvlf mftrrvnedt qfhddillwl qklvsvlqrv gcpgdhlfll
      481 nhilrcpagv skwavpfiqi kvlhnpsgvf hfmqslallm spvknraefm chmkpserkp
      541 sssgpgsgtw tlvdeggeed edpetswill neddlvtila qfpfhelfqh llgfkakgdy
      601 lpettrpqem mkifafansl vellavglet fnraryrqfv krigymirmt lgyvsdhwaq
      661 yvshnqgsgl aqqpysmekl qvefdelflr avlhvlkakr lgiwlfmsem pfgtlsvqml
      721 wklfylmhqv esenlqqlss slqpaqckqq lqdpehftnf ekclssmnss eeicllttfa
      781 qmaqarrtnv dedfikiivl eiyevsyvtl stretfskvg rellgtitav hpeiisvlld
      841 rvqetidqvg mvslylfkel plylwqpsas eiavirdwll nynltvvknk lacvilegln
      901 wgfakqatlh ldqavhaeva lmvleayqky laqkpyagil sesmkqvsyl asivrygetp
      961 etsfnqwawn lilrlklhkn dygiqpncpa vpfsvtvpdm tesptfhpll kavkagmpig
     1021 cylalsmtav ghsiekfcae gipllgilvq srhlrtvvhv ldkilplfyp cqyyllkneq
     1081 flshlllflh ldsgvpqgvt qqvthkvaqh ltgashgdnv kllnsmiqah isvstqpnev
     1141 gpvavlefwv qalisqhlwy reqpilflmd hlckaafqlm qedciqklly qqhknalgyh
     1201 cdrsllsslv swivagnitp sfveglatpt qvwfawtvln mesifeedsq lrrviegelv
     1261 insaftpdqa lkkaqtqlkl pivpslqrll iyrwahqalv tpsdhpllpl iwqkffllyl
     1321 hrpgpqygya aqycrfllpi dgcigrrffq spahinllke mkrrltevad fhhaaskalr
     1381 vpaegseglp eshsgtpgyl tspelhkelv rlfnvyilwl edenfqkgdt yipslpkhyd
     1441 ihrlakvmqn qqdlwmeyln meriyhefqe tvglwtqakl eshstpcsls vqldftdpll
     1501 akervlsnlr kheapqppla lhptkppvpv issavllsqk datqlvctdl nllqqqarta
     1561 alresqqval dgelldtmpk qyvnreeqtt lhlecrgssg kkcqgaavvt vqfegmhkne
     1621 aisqqlhvlr kevkqlqaea akppslnive aavhaenlit alvnayklqp tpgiqkvgis
     1681 lfftivdyvs detqrhpptr qfftscieil gqvfisgiks ecrkvletil knsrlcslls
     1741 pfftpnaapa efiqlyeqvv kflsednsdm ifmlltkfdl kqwlsatkpp lsdrtrlles
     1801 ihlaltawgl epdedilmpf nlfckhwtyl llyqfpdqys dilrllmqss aeqllspecw
     1861 katlralgcc apscqqgaas tegavlpsss dallsdkqvm etiqwlsdff yklrlskmdf
     1921 ksfglfskws pymadvktfl gylvkrlidl emtclaqdpt asrktvlksl hsviiqlfkp
     1981 wilvlednes sqqrhypwle sdtvvassiv qlftdcidsl hesfkdkllp gdagalwlhl
     2041 mhyceactap kmpefilyaf hstyrklpwk dlhpdqmlme affkvergsp kscflflgsv
     2101 lcevnwvsvl sdawnssphp etrsmivcll fmmillakev qlvdqtdspl lsllgqtssl
     2161 swhlvdivsy qsvlsyfssh yppsiilake syaelimkll kvsaglsipt dsqkhldavp
     2221 kcqafthqmv qflstleqng kitlavleqe mskllddiiv fnppdmdsqt rhmalsslfm
     2281 evlmmmnnat iptaeflrgs irtwigqkmh glvvlpllta acqslasvrh maetteacit
     2341 ayfkesplnq nsgwgpilvs lqvpeltmee flqecltlgs yltlyvyllq clnseqtlrn
     2401 emkvllilsk wleqvypssv eeeaklflww hqvlqlsliq teqndsvlte svirilllvq
     2461 srqnlvaeer lssgilgaig fgrksplsnr frvvarsmaa flsvqvpmed qirlrpgsel
     2521 hltpkaqqvs rrspfkrlal tgvleselsl niv
//
LOCUS       XP_047294342             963 aa            linear   PRI 20-MAR-2023
DEFINITION  NACHT, LRR and PYD domains-containing protein 7 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047294342
VERSION     XP_047294342.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438386.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..963
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..963
                     /product="NACHT, LRR and PYD domains-containing protein 7
                     isoform X1"
                     /calculated_mol_wt=109813
     Region          10..93
                     /region_name="Pyrin_NALPs"
                     /note="Pyrin death domain found in NALP proteins; cd08320"
                     /db_xref="CDD:260032"
     Region          172..340
                     /region_name="NACHT"
                     /note="NACHT domain; pfam05729"
                     /db_xref="CDD:428606"
     Region          412..466
                     /region_name="NOD2_WH"
                     /note="NOD2 winged helix domain; pfam17779"
                     /db_xref="CDD:436037"
     Region          468..585
                     /region_name="NLRC4_HD2"
                     /note="NLRC4 helical domain HD2; pfam17776"
                     /db_xref="CDD:436035"
     Region          <751..940
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          791..814
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          820..847
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          848..876
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          877..904
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          905..935
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..963
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /coded_by="XM_047438386.1:4..2895"
                     /db_xref="GeneID:199713"
                     /db_xref="HGNC:HGNC:22947"
                     /db_xref="MIM:609661"
ORIGIN      
        1 mtspqlewtl qtlleqlned elksfksllw afpledvlqk tpwseveead gkklaeilvn
       61 tssenwirna tvnileemnl telckmakae mmedgqvqei dnpelgdaee dselakpgek
      121 egwrnsmekq slvwkntfwq gdidnfhddv tlrnqrfipf lnprtprklt pytvvlhgpa
      181 gvgkttlakk cmldwtdcnl sptlryafyl sckelsrmgp csfaeliskd wpelqddips
      241 ilaqaqrilf vvdgldelkv ppgaliqdic gdwekkkpvp vllgsllkrk mlpraallvt
      301 trpralrdlq llaqqpiyvr vegfleedrr ayflrhfgde dqamrafelm rsnaalfqlg
      361 sapavcwivc ttlklqmekg edpvptcltr tglflrflcs rfpqgaqlrg alrtlsllaa
      421 qglwaqmsvf hredlerlgv qesdlrlfld gdilrqdrvs kgcysfihls fqqfltalfy
      481 alekeegedr dghawdigdv qkllsgeerl knpdliqvgh flfglanekr akeleatfgc
      541 rmspdikqel lqckahlhan kplsvtdlke vlgclyesqe eelakvvvap fkeisihltn
      601 tsevmhcsfs lkhcqdlqkl slqvakgvfl enymdfeldi eferctylti pnwarqdlrs
      661 lrlwtdfcsl fssnsnlkfl evkqsflsds svrilcdhvt rstchlqkve iknvtpdtay
      721 rdfclafigk ktlthltlag hiewertmml mlcdllrnhk cnlqylrlgg hcatpeqwae
      781 ffyvlkanqs lkhlrlsanv lldegamlly ktmtrpkhfl qmlslencrl teasckdlaa
      841 vlvvskklth lclaknpigd tgvkflcegl sypdcklqtl vlqqcsitkl gcrylsealq
      901 eacsltnldl sinqiarglw ilcqalenpn cnlkhlrild llssairslk lwtwariicg
      961 rva
//
LOCUS       XP_005258841             654 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 283 isoform X1 [Homo sapiens].
ACCESSION   XP_005258841
VERSION     XP_005258841.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005258784.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..654
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..654
                     /product="zinc finger protein 283 isoform X1"
                     /calculated_mol_wt=75301
     Region          47..88
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          184..204
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          212..232
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(217,219,221,223..224,227..228,231,245,247,251..252,
                     255..256,259,273,275,277,279..280,283..284,287)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          236..630
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          240..260
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          268..288
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          296..316
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          324..344
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          352..372
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          380..400
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(385,387,389,391..392,395..396,399,413,415,419..420,
                     423..424,427,441,443,445,447..448,451..452,455)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          408..428
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          436..456
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          464..484
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          492..512
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(497,499,501,503..504,507..508,511,525,527,531..532,
                     535..536,539,553,555,557,559..560,563..564,567)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          520..540
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          548..568
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          576..596
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          604..623
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..654
                     /gene="ZNF283"
                     /gene_synonym="HZF19; HZF41"
                     /coded_by="XM_005258784.4:428..2392"
                     /db_xref="GeneID:284349"
                     /db_xref="HGNC:HGNC:13077"
ORIGIN      
        1 mclitlnnsy rmfescsgfs gfcaspiees hgalisscns rtmtdglvtf rdvaidfsqe
       61 ewecldpaqr dlyvdvmlen ysnlvsldle sktyetkkif sendifeinf sqwemkdksk
      121 tlgleasifr nnwkcksife glkghqegyf sqmiisyeki psyrkskslt phqrihntek
      181 syvckecgka cshgsklvqh erthtaekhf eckecgknyl sayqlnvhqr fhtgekpyec
      241 kecgktfswg sslvkherih tgekpyecke cgkafsrgyh ltqhqkihtg vksykckecg
      301 kaffwgssla kheiihtgek pykckecgka fsrgyqltqh qkihtgkkpy eckicgkafc
      361 wgyqltrhqi fhtgekpyec kecgkafncg ssliqherih tgekpyecke cgkafsrgyh
      421 lsqhqkihtg ekpfeckecg kafswgsslv khervhtgek sheckecgkt fcsgyqltrh
      481 qvfhtgekpy eckecgkafn cgsslvqher ihtgekpyec kecgkafsrg yhltqhqkih
      541 tgekpfkcke cgkafswgss lvkhervhtn eksyeckdcg kafgsgyqls vhqrfhtgek
      601 lyqrkefgkt ftcgsklvhe rthsndkpyk ynecgeaflw ttysnekidt detl
//
LOCUS       XP_047295314             518 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 85 isoform X5 [Homo sapiens].
ACCESSION   XP_047295314
VERSION     XP_047295314.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439358.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..518
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..518
                     /product="zinc finger protein 85 isoform X5"
                     /calculated_mol_wt=59635
     Region          99..119
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          127..147
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          151..512
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          155..175
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(160,162,164,166..167,170..171,174,188,190,194..195,
                     198..199,202,216,218,220,222..223,226..227,230)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          183..203
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(183,186,199,203)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          211..231
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          239..259
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(239,242,255,259)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          267..287
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          295..315
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          323..343
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(328,330,332,334..335,338..339,342,356,358,362..363,
                     366..367,370,384,386,388,390..391,394..395,398)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          351..371
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(351,354,367,371)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          379..399
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          407..427
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(412,414,416,418..419,422..423,426,440,442,446..447,
                     450..451,454,468,470,472,474..475,478..479,482)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          435..455
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(435,438,451,455)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          463..483
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          491..511
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..518
                     /gene="ZNF85"
                     /gene_synonym="HPF4; HTF1"
                     /coded_by="XM_047439358.1:38..1594"
                     /db_xref="GeneID:7639"
                     /db_xref="HGNC:HGNC:13160"
                     /db_xref="MIM:603899"
ORIGIN      
        1 mcshfaqdlw peqnikdsfq kvtlkrygkc rhenlplrkg cesmdeckmh kggcnglnqc
       61 ltatqskifq cdkyvkvahk fsnsnrheir htkkkpfkct kcgksfgmis cltehsriht
      121 rvnfykceec gkafnwsstl tkhkrihtge kpykceecgk afnqssnlik hkkihtgekp
      181 ykceecgktf nrfstltthk iihtgekpyk ckecgkafnr sstltthrki htgekpykce
      241 ecgkafkqss nltthkiiht gekpykckkc gkafnqsahl tthevihtge kpykcekcgk
      301 afnhfshltt hkiihtgekp ykckecgkaf khsstltkhk iihtgekpyk ckecekafnq
      361 sskltehkki htgekpyece kcgkafnqss nltrhkksht eekpykceec gkgfkwpstl
      421 tihkiihtge kpykceecgk afnqsskltk hkkihtgekp ytceecgkaf nqssnltkhk
      481 rihtgekpyk ceecdkafkw ssvltkhkii htgeklqi
//
LOCUS       XP_047295629            1004 aa            linear   PRI 20-MAR-2023
DEFINITION  NACHT, LRR and PYD domains-containing protein 12 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047295629
VERSION     XP_047295629.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439673.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 5% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1004
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..1004
                     /product="NACHT, LRR and PYD domains-containing protein 12
                     isoform X4"
                     /calculated_mol_wt=113718
     Region          13..92
                     /region_name="Pyrin_NALPs"
                     /note="Pyrin death domain found in NALP proteins; cd08320"
                     /db_xref="CDD:260032"
     Region          129..200
                     /region_name="FISNA"
                     /note="Fish-specific NACHT associated domain; pfam14484"
                     /db_xref="CDD:433982"
     Region          212..381
                     /region_name="NACHT"
                     /note="NACHT domain; pfam05729"
                     /db_xref="CDD:428606"
     Region          459..512
                     /region_name="NOD2_WH"
                     /note="NOD2 winged helix domain; pfam17779"
                     /db_xref="CDD:436037"
     Region          514..628
                     /region_name="NLRC4_HD2"
                     /note="NLRC4 helical domain HD2; pfam17776"
                     /db_xref="CDD:436035"
     Region          705..978
                     /region_name="LRR_RI"
                     /note="Leucine-rich repeats (LRRs), ribonuclease inhibitor
                     (RI)-like subfamily. LRRs are 20-29 residue sequence
                     motifs present in many proteins that participate in
                     protein-protein interactions and have different functions
                     and cellular locations. LRRs correspond...; cd00116"
                     /db_xref="CDD:238064"
     Site            order(715,718,720,723,725,744,747,749,752,754,772,775,777,
                     780,782,801,804,806,809,811,829,832,834,837,839,858,861,
                     863,866,868,886,889,891,894,896,915,918,920,923,925,943,
                     946,948,951,953,972,975,977)
                     /site_type="active"
                     /note="Leucine-rich repeats [active]"
                     /db_xref="CDD:238064"
     Region          715..743
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          744..771
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Site            order(751,808,836,893,919,921,947,976)
                     /site_type="other"
                     /note="Substrate binding site [chemical binding]"
                     /db_xref="CDD:238064"
     Region          772..800
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          801..828
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          829..857
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          858..885
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          886..914
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          915..942
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..1004
                     /gene="NLRP12"
                     /gene_synonym="CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO;
                     RNO2"
                     /coded_by="XM_047439673.1:230..3244"
                     /db_xref="GeneID:91662"
                     /db_xref="HGNC:HGNC:22938"
                     /db_xref="MIM:609648"
ORIGIN      
        1 mlrtagrdgl crlstyleel eavelkkfkl ylgtatelge gkipwgsmek agplemaqll
       61 ithfgpeeaw rlalstferi nrkdlwergq redlvrdtpp ggpsslgnqs tcllevslvt
      121 prkdpqetyr dyvrrkfrlm edrnarlgec vnlshrytrl llvkehsnpm qvqqqlldtg
      181 rghartvghq aspikietlf epdeerpepp rtvvmqgaag igksmlahkv mldwadgklf
      241 qgrfdylfyi ncremnqsat ecsmqdlifs cwpepsaplq elirvperll fiidgfdelk
      301 psfhdpqgpw clcweekrpt elllnslirk kllpelslli ttrptalekl hrllehprhv
      361 eilgfseaer keyfykyfhn aeqagqvfny vrdneplftm cfvplvcwvv ctclqqqleg
      421 ggllrqtsrt ttavymlyll slmqpkpgap rlqpppnqrg lcslaadglw nqkilfeeqd
      481 lrkhgldged vsaflnmnif qkdinceryy sfihlsfqef faamyyilde geggagpdqd
      541 vtrllteyaf sersflalts rflfgllnee trshlekslc wkvsphikmd llqwiqskaq
      601 sdgstlqqgs leffsclyei qeeefiqqal shfqvivvsn iaskmehmvs sfclkrcrsa
      661 qvlhlygaty sadgedrarc sagahtllvq lpertvllda ysehlaaalc tnpnlielsl
      721 yrnalgsrgv kllcqglrhp ncklqnlrlk rcrisssace dlsaaliank nltrmdlsgn
      781 gvgfpgmmll ceglrhpqcr lqmiqlkicr ltaaacdela stlsvnqslr eldlslnelg
      841 dlgvlllceg lrhptcklqt lrlgicrlgs aaceglsvvl qanhnlreld lsfndlgdwg
      901 lwllaeglqh pacrlqklwl dscgltakac enlyftlgin qtltdlyltn nalgdtgvrl
      961 lckrlshpgc klrvlwlfgm dlnkmthsrl aalrvtkpyl digc
//
LOCUS       XP_047298971             964 aa            linear   PRI 20-MAR-2023
DEFINITION  adenylate cyclase type 3 isoform X22 [Homo sapiens].
ACCESSION   XP_047298971
VERSION     XP_047298971.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443015.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..964
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..964
                     /product="adenylate cyclase type 3 isoform X22"
                     /calculated_mol_wt=108693
     Region          <4..81
                     /region_name="AC_N"
                     /note="Adenylyl cyclase N-terminal extracellular and
                     transmembrane region; pfam16214"
                     /db_xref="CDD:318454"
     Region          88..294
                     /region_name="Guanylate_cyc"
                     /note="Adenylate and Guanylate cyclase catalytic domain;
                     pfam00211"
                     /db_xref="CDD:425528"
     Site            order(100,102..107,142,144..146,149,211..213,217..218,
                     221..222)
                     /site_type="active"
                     /note="nucleotidyl binding site [active]"
                     /db_xref="CDD:143636"
     Site            order(102,146)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:143636"
     Site            order(107,119,122..123,126,130,142..143,199,202,212..215,
                     218)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143636"
     Region          734..941
                     /region_name="Guanylate_cyc"
                     /note="Adenylate and Guanylate cyclase catalytic domain;
                     pfam00211"
                     /db_xref="CDD:425528"
     Site            order(746,748..752,757,795,797..799,802,882..884,888..889,
                     892..893,929)
                     /site_type="active"
                     /note="nucleotidyl binding site [active]"
                     /db_xref="CDD:143636"
     Site            order(748,799)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:143636"
     Site            order(757,769,772..773,776,780,795..796,870,873,883..886,
                     889,929)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143636"
     CDS             1..964
                     /gene="ADCY3"
                     /gene_synonym="AC-III; AC3; BMIQ19"
                     /coded_by="XM_047443015.1:97..2991"
                     /db_xref="GeneID:109"
                     /db_xref="HGNC:HGNC:234"
                     /db_xref="MIM:600291"
ORIGIN      
        1 mglilanvfl ylcaiavgim syymadrkhr kaflearqsl evkmnleeqs qqqenlmlsi
       61 lpkhvademl kdmkkdesqk dqqqfntmym yrhenvsilf adivgftqls sacsaqelvk
      121 llnelfarfd klaakyhqlr ikilgdcyyc icglpdyred havcsilmgl amveaisyvr
      181 ektktgvdmr vgvhtgtvlg gvlgqkrwqy dvwstdvtva nkmeaggipg gskieerlys
      241 cvvaptlrlr wervhisqst mdclkgefdv epgdggsrcd yleekgiety liiaskpevk
      301 ktatqnglng salpngapas skssspalie tkepngsahs sgstsekpee qdaqlfpttl
      361 shlphsrclp gsqadnpsfp nprrrlrlqd ladrvvdase dehelnqlln ealleresaq
      421 vvkkrntfll smrfmdpeme trysvekekq sgaafscscv vllctalvei lidpwlmtny
      481 vtfmvgeill lilticslaa ifprafpkkl vafstwidrt rwarntwaml aifilvmanv
      541 vdmlsclqyy tgpsnatagm etegsclenp kyynyvavls liatimlvqv shmvkltlml
      601 lvagavatin lyawrpvfde ydhkrfrehd lpmvaleqmq gfnpglngtd srlplvpsky
      661 smtvmvflmm lsfyyfsrhv eklartlflw kievhdqker vyemrrwnea lvtnmlpehv
      721 arhflgskkr deelysqtyd eigvmfaslp nfadfytees innggieclr flneiisdfd
      781 slldnpkfrv itkiktigst ymaasgvtpd vntngfassn kedksererw qhladladfa
      841 lamkdtltni nnqsfnnfml rigmnkggvl agvigarkph ydiwgntvnv asrmestgvm
      901 gniqvveetq vilreygfrf vrrgpifvkg kgelltfflk grdklatfpn gpsvtlphqv
      961 vdns
//
LOCUS       XP_047299765            1064 aa            linear   PRI 20-MAR-2023
DEFINITION  pumilio homolog 2 isoform X2 [Homo sapiens].
ACCESSION   XP_047299765
VERSION     XP_047299765.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443809.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1064
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1064
                     /product="pumilio homolog 2 isoform X2"
                     /calculated_mol_wt=113873
     Region          721..1042
                     /region_name="Pumilio"
                     /note="Pumilio-family RNA binding domain; cd07920"
                     /db_xref="CDD:153420"
     Site            order(777..778,781,813..814,817,850,853,885..886,889,
                     918..919,921..922,925,954..955,957..958,961,997..998,
                     1000..1001,1004,1034,1037)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:153420"
     CDS             1..1064
                     /gene="PUM2"
                     /gene_synonym="PUMH2; PUML2"
                     /coded_by="XM_047443809.1:488..3682"
                     /db_xref="GeneID:23369"
                     /db_xref="HGNC:HGNC:14958"
                     /db_xref="MIM:607205"
ORIGIN      
        1 mnhdfqalal esrgmgellp tkkfwepdds tkdgqkgifl gddewretaw gashhsmsqp
       61 imvqrrsgqg fhgnsevnai lsprsesggl gvsmveyvls sspadkldsr frkgnfgtrd
      121 aetdgpekgd qkgkaspfee dqnrdlkqgd dddskingrg lpngmdadck dfnrtpgsrq
      181 asptevverl gpntnpsegl gplpnptank plveefsnpe tqnldameqv gleslqfdyp
      241 gnqvpmdssg atvglfdyns qqqlfqrtna ltvqqltaaq qqqyalaaaq qphiagvfsa
      301 glapaafvpn pyiisaappg tdpytaagla aaatlagpav vppqyygvpw gvypanlfqq
      361 qaaaaannta sqqaasqaqp gqqqvlraga gqrpltpnqg qqgqqaesla aaaaanptla
      421 fgqglatgmp gyqvlaptay ydqtgalvvg pgartglgap vrlmaptpvl issaaaqaaa
      481 aaaaggtass ltgstnglfr pigtqppqqq qqqpstnlqs nsfygssslt nssqssslfs
      541 hgpgqpgsts lgfgsgnslg aaigsalsgf gssvgssass satrreslst ssdlykrsss
      601 slapigqpfy nslgfsssps pigmplpsqt pghsltppps lsshgssssl hlggltngsg
      661 ryisaapgae akyrsassts slfssssqlf ppsrlrynrs dimpsgrsrl ledfrnnrfp
      721 nlqlrdligh ivefsqdqhg srfiqqkler atpaerqmvf neilqaayql mtdvfgnyvi
      781 qkffefgsld qklalatrir ghvlplalqm ygcrviqkal esissdqqse mvkeldghvl
      841 kcvkdqngnh vvqkciecvq pqslqfiida fkgqvfvlst hpygcrviqr ilehctaeqt
      901 lpileelhqh teqlvqdqyg nyviqhvleh grpedkskiv seirgkvlal sqhkfasnvv
      961 ekcvthasra erallidevc cqndgphsal ytmmkdqyan yvvqkmidma epaqrkiimh
     1021 kirphittlr kytygkhila klekyylkns pdlgpiggpp ngml
//
LOCUS       XP_047300051             193 aa            linear   PRI 20-MAR-2023
DEFINITION  hippocalcin-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047300051
VERSION     XP_047300051.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444095.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..193
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..193
                     /product="hippocalcin-like protein 1 isoform X1"
                     /calculated_mol_wt=22182
     Region          13..179
                     /region_name="FRQ1"
                     /note="Ca2+-binding protein, EF-hand superfamily [Signal
                     transduction mechanisms]; COG5126"
                     /db_xref="CDD:227455"
     CDS             1..193
                     /gene="HPCAL1"
                     /gene_synonym="BDR1; HLP2; VILIP-3"
                     /coded_by="XM_047444095.1:2202..2783"
                     /db_xref="GeneID:3241"
                     /db_xref="HGNC:HGNC:5145"
                     /db_xref="MIM:600207"
ORIGIN      
        1 mgkqnsklrp evlqdlrent eftdhelqew ykgflkdcpt ghltvdefkk iyanffpygd
       61 askfaehvfr tfdtngdgti dfrefiials vtsrgkleqk lkwafsmydl dgngyisrse
      121 mleivqaiyk mvssvmkmpe destpekrtd kifrqmdtnn dgklsleefi rgaksdpsiv
      181 rllqcdpssa sqf
//
LOCUS       XP_047301576             304 aa            linear   PRI 20-MAR-2023
DEFINITION  tissue factor pathway inhibitor isoform X1 [Homo sapiens].
ACCESSION   XP_047301576
VERSION     XP_047301576.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445620.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 16% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..304
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..304
                     /product="tissue factor pathway inhibitor isoform X1"
                     /calculated_mol_wt=34884
     Region          51..105
                     /region_name="Kunitz_TFPI1_1-like"
                     /note="Kunitz protease inhibitor (KPI) domain 1 (KPI-1 or
                     K1) of tissue factor pathway inhibitor (TFPI); cd22613"
                     /db_xref="CDD:438656"
     Site            order(52..53,63,65,67,69,84..91,93..96,99,102..103)
                     /site_type="other"
                     /note="antibody binding site [polypeptide binding]"
                     /db_xref="CDD:438656"
     Site            order(60..69,83..88,93)
                     /site_type="other"
                     /note="serine protease binding site [polypeptide binding]"
                     /db_xref="CDD:438656"
     Region          121..176
                     /region_name="Kunitz_TFPI1_2-like"
                     /note="Kunitz protease inhibitor (KPI) domain 2 (KPI-2 or
                     K2) of tissue factor pathway inhibitor (TFPI); cd22614"
                     /db_xref="CDD:438657"
     Site            order(133..137,156,158..159)
                     /site_type="other"
                     /note="serine protease binding site [polypeptide binding]"
                     /db_xref="CDD:438657"
     Region          214..267
                     /region_name="Kunitz_TFPI1_TFPI2_3-like"
                     /note="Kunitz protease inhibitor (KPI) domain 3 (KPI-3 or
                     K3) of tissue factor pathway inhibitor (TFPI) and TFPI2,
                     and similar proteins; cd22615"
                     /db_xref="CDD:438658"
     CDS             1..304
                     /gene="TFPI"
                     /gene_synonym="EPI; LACI; TFI; TFPI1"
                     /coded_by="XM_047445620.1:404..1318"
                     /db_xref="GeneID:7035"
                     /db_xref="HGNC:HGNC:11760"
                     /db_xref="MIM:152310"
ORIGIN      
        1 miytmkkvha lwasvcllln lapaplnads eedeehtiit dtelpplklm hsfcafkadd
       61 gpckaimkrf ffniftrqce efiyggcegn qnrfesleec kkmctrdnan riikttlqqe
      121 kpdfcfleed pgicrgyitr yfynnqtkqc erfkyggclg nmnnfetlee cknicedgpn
      181 gfqvdnygtq lnavnnsltp qstkvpslfe fhgpswcltp adrglcrane nrfyynsvig
      241 kcrpfkysgc ggnennftsk qeclrackkg fiqriskggl iktkrkrkkq rvkiayeeif
      301 vknm
//
LOCUS       XP_047302293             150 aa            linear   PRI 20-MAR-2023
DEFINITION  integrin beta-1-binding protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047302293
VERSION     XP_047302293.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446337.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 45% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..150
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..150
                     /product="integrin beta-1-binding protein 1 isoform X2"
                     /calculated_mol_wt=16009
     Region          1..150
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     CDS             1..150
                     /gene="ITGB1BP1"
                     /gene_synonym="ICAP-1A; ICAP-1alpha; ICAP-1B; ICAP1;
                     ICAP1A; ICAP1B"
                     /coded_by="XM_047446337.1:411..863"
                     /db_xref="GeneID:9270"
                     /db_xref="HGNC:HGNC:23927"
                     /db_xref="MIM:607153"
ORIGIN      
        1 mfrkgkkrhs ssssqsseis tksksvdssl gglsrsstva sldtdstkss gqsnnnsdtc
       61 aefrikyvga ieklklsegk glegpldlin yidvaqqdgk lpfvppeeef imgvskygik
      121 vstsdqyeqa qaickvlsta fdsvltsekp
//
LOCUS       XP_011528995             590 aa            linear   PRI 20-MAR-2023
DEFINITION  protein DENND6B isoform X3 [Homo sapiens].
ACCESSION   XP_011528995
VERSION     XP_011528995.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011530693.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..590
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..590
                     /product="protein DENND6B isoform X3"
                     /calculated_mol_wt=66910
     Region          42..>177
                     /region_name="Avl9"
                     /note="Transport protein Avl9; pfam09794"
                     /db_xref="CDD:430832"
     Region          151..>311
                     /region_name="DENN"
                     /note="DENN (AEX-3) domain; cl11519"
                     /db_xref="CDD:448293"
     Region          250..356
                     /region_name="SPA"
                     /note="Stabilization of polarity axis; cl40631"
                     /db_xref="CDD:454797"
     CDS             1..590
                     /gene="DENND6B"
                     /gene_synonym="AFI1B; FAM116B"
                     /coded_by="XM_011530693.4:25..1797"
                     /db_xref="GeneID:414918"
                     /db_xref="HGNC:HGNC:32690"
ORIGIN      
        1 mdallgtgpr rargclgaag ptssgraart paapwarfsa wlecvcvvtf dlelgqalel
       61 vypndfrltd kekssicyls fpdshsgclg dtqfsfrmrq cggqrspwha ddrhynsrap
      121 valqrepahy fgyvyfrqvk dssvkrgyfq kslvlvsrlp fvrlfqalls liapeyfdkl
      181 apcleavcse idqwpapapg qtlnlpvmgv vvqvripsrv dksessppkq fdqenllpap
      241 vvlasvheld lfrcfrpvlt hmqtlwelml lgepllvlap spdvssemvl altsclqplr
      301 fccdfrpyft ihdsefkeft trtqappnvv lgvtnpffik tlqhwphilr vgepkmsgdl
      361 pkqvklkkps rlktldtkpg lytaytahlh rdkallkrll kgvqkkrpsd vqsallrrhl
      421 leltqsfiip lehymaslmp lqksitpwkt ppqiqpfsqd dflrslehag pqltcilkgd
      481 wlglyrcvdc rrffksphfd gwyrqrhkem alklealhle aiceanietw mkdksevevv
      541 dlvlklrekl vraqghqlpv keatlqraql yietvigslp kdlqavlcpp
//
LOCUS       XP_047297437             449 aa            linear   PRI 20-MAR-2023
DEFINITION  putative SEC14-like protein 6 isoform X1 [Homo sapiens].
ACCESSION   XP_047297437
VERSION     XP_047297437.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441481.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 14% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..449
                     /product="putative SEC14-like protein 6 isoform X1"
                     /calculated_mol_wt=49883
     Region          <270..376
                     /region_name="SEC14"
                     /note="Domain in homologues of a S. cerevisiae
                     phosphatidylinositol transfer protein (Sec14p);
                     smart00516"
                     /db_xref="CDD:214706"
     Site            order(316,348)
                     /site_type="other"
                     /note="salt bridge"
                     /db_xref="CDD:238099"
     CDS             1..449
                     /gene="SEC14L6"
                     /coded_by="XM_047441481.1:519..1868"
                     /db_xref="GeneID:730005"
                     /db_xref="HGNC:HGNC:40047"
ORIGIN      
        1 mcylrcpilm ttsscagske kgpkahqgac pgnqgacvqc swvsgylshc gspgqeqgpl
       61 arsfdlqkse dmlrkhmefr kqqdlanila wqppevvrly nangicghdg egspvwyhiv
      121 gsldpkglll saskqellrd sfrscelllr ecelqsqkvc gchpgqlqpd tapsppepht
      181 qnlpswapgl lgsswycgvn agserprthp rphsmwlnwe sflpqlapkp tqstgphcpl
      241 qphwtrgtgi sapldrrgnc ntaiwppmdr hkelgkrvek iiaifglegl glrdlwkpgi
      301 ellqeffsal eanypeilks livvrapklf avafnlvksy mseetrrkvv ilgdnwkqel
      361 tkfispdqlp vefggtmtdp dgnpkcltki nyggevpksy ylckqvrlqy ehtrsvgrgs
      421 slqveneilf pgcvlrcpev lqhlqpgsf
//
LOCUS       XP_047297602             982 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform
            X6 [Homo sapiens].
ACCESSION   XP_047297602
VERSION     XP_047297602.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441646.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..982
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..982
                     /product="serine/threonine-protein phosphatase 6
                     regulatory subunit 2 isoform X6"
                     /calculated_mol_wt=106549
     Region          150..554
                     /region_name="SAPS"
                     /note="SIT4 phosphatase-associated protein; pfam04499"
                     /db_xref="CDD:398279"
     Region          <723..973
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..982
                     /gene="PPP6R2"
                     /gene_synonym="KIAA0685; PP6R2; SAP190; SAPS2"
                     /coded_by="XM_047441646.1:482..3430"
                     /db_xref="GeneID:9701"
                     /db_xref="HGNC:HGNC:19253"
                     /db_xref="MIM:610877"
ORIGIN      
        1 mdfqdlglvl lrvdlqssaa vtmfwkfdln ttshvdklld kehvtlqelm deddilqeck
       61 aqnqklldfl crqqcmeelv slitqdppld meekvrfkyp ntacelltcd vpqisdrlgg
      121 desllsllyd fldhepplnp llasffskti gnliarkteq vitflkkkdk fislvlkhig
      181 tsalmdlllr lvscvepagl rqdvlhwlne ekviqrlvel ihpsqdedrq snasqtlcdi
      241 vrlgrdqgsq lqealepdpl ltalesqdcv eqllknmfdg drtesclvsg tqvlltllet
      301 rrvgteglvd sfsqglersy avsssvlhgi eprlkdfhql llnppkkkai lttigvleep
      361 lgnarlhgar lmaallhtnt psinqelcrl ntmdllldlf fkytwnnflh fqvelciaai
      421 lshaareert easgsesrve pphengnrsl etpqpaaslp dntmvthlfq kcclvqrile
      481 aweandhtqa aggmrrgnmg hltrianavv qnlergpvqt hisevirglp adcrgrwesf
      541 veetltetnr rntvdlvsth hlhssseded iegafpnels lqqafsdyqi qqmtanfvdq
      601 fgfndeefad qddninapfd riaeinfnid adedspsaal feaccsdriq pfdddededi
      661 wedsdtrcaa rvmarprfga phasescskn gperggqdgk asleahrdap gagappapgk
      721 keappvegds eagamwtavf depanstpta pgvvrdvgss vwaagtsape ekgwakftdf
      781 qpfccsesgp rcsspvdtec shaegsrsqg pekafspasp cawnvcvtrk apllasdsss
      841 sggshsedgd qkaasamdav srgpgreapp lptvarteea vgrvgcadsr llspacpapk
      901 evtaapavav ppeatvaitt alskagpaip tpavssalav avplgpimav taapamvatl
      961 gtvtkdgktd appegaalng pv
//
LOCUS       XP_011531930             981 aa            linear   PRI 20-MAR-2023
DEFINITION  proline-rich transmembrane protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_011531930
VERSION     XP_011531930.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011533628.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..981
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..981
                     /product="proline-rich transmembrane protein 3 isoform X1"
                     /calculated_mol_wt=102067
     Region          <84..468
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..981
                     /gene="PRRT3"
                     /coded_by="XM_011533628.3:325..3270"
                     /db_xref="GeneID:285368"
                     /db_xref="HGNC:HGNC:26591"
                     /db_xref="MIM:619993"
ORIGIN      
        1 masspwgcvc gllllllpll gtgpalgrgf prplenseip mipgahpkgs vgsepqafdv
       61 fpenpradsh rnsdvrhapa eempekpvas plgpalygpk aaqgaqrerl pvtddlqmaq
      121 gpsshgwtgp ldsqellqqe avaphpvghp hltfipttpr rqlrvatvpp slqhegqegq
      181 wpprdeglka ktksrvppts psdhqgppht lvshsgtvkr pvlegqggfe ehlqeaaqgp
      241 hftqqdpaap dvgsvppvev vysqepgaqp dlalarslpp aeelpvetpk ragaevswev
      301 sspgpppkqa dlpdakdspg pqptdppase apdrpskper aamngadpis pqrvrgavea
      361 pgtpkslipg psdpgpavnr tespmgalqp deaeewpgrp qshppappvq apstsrrgli
      421 rvttqralgq ppppeptass masapasspp anatapplrw gplrrvlsfs welhvygvgv
      481 lfllpallal aalaaapagp rlalvaavlv lvasalrsay mltdpygsqa rlgvrgglvl
      541 ynlpfplllt alaaltllgl gaglppplqn plllgavalv hgvgllatdl lstwsvlnll
      601 tqglscawga avalgtlclc rrrlldgprg wdaspgprll avagalglla sglqlaaalw
      661 lypgpgrvgr fswawwgvhf wlrlleltwa lalalaavaa arprppteha cwaklmrlac
      721 papsgksevp erpnncyagp snvgagsldi skslirnpae sgqlatpssg awgsaaslgr
      781 gpqggpglsr ngvgpapsls eldlrppspi nlsrsidaal frehlvrdsv fqrcglrgla
      841 spppggalrp rrgshpkael ddagssllrg rcrslsdvrv rgpvpqhvve apdgaaaaas
      901 gssldsfsrg slkiswnpwr hglssvdslp ldelpstvql lpaptpapds taarqgdgqg
      961 evqprgkpge srsassdtie l
//
LOCUS       XP_006713279             459 aa            linear   PRI 20-MAR-2023
DEFINITION  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X1
            [Homo sapiens].
ACCESSION   XP_006713279
VERSION     XP_006713279.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006713216.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..459
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..459
                     /product="3-oxoacyl-[acyl-carrier-protein] synthase,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=48712
     Region          42..455
                     /region_name="fabF"
                     /note="beta-ketoacyl-acyl-carrier-protein synthase II;
                     TIGR03150"
                     /db_xref="CDD:274452"
     Site            order(153,160..161,165,167..168,180,186,190,194,200,202,
                     204..206,218,221..222,225,246..247,250..251,308..312,326,
                     448,450)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:238430"
     Site            order(209,348,385)
                     /site_type="active"
                     /db_xref="CDD:238430"
     CDS             1..459
                     /gene="OXSM"
                     /gene_synonym="CEM1; FASN2D; KASI; KS"
                     /coded_by="XM_006713216.5:759..2138"
                     /db_xref="GeneID:54995"
                     /db_xref="HGNC:HGNC:26063"
                     /db_xref="MIM:610324"
ORIGIN      
        1 msnclqnflk itstrllcsr lcqqlrskrk ffgtvpisrl hrrvvitgig lvtplgvgth
       61 lvwdrligge sgivslvgee yksipcsvaa yvprgsdegq fneqnfvsks diksmsspti
      121 maigaaelam kdsgwhpqse adqvatgvai gmgmiplevv setalnfqtk gynkvspffv
      181 pkilvnmaag qvsiryklkg pnhavstact tgahavgdsf rfiahgdadv mvaggtdsci
      241 splslagfsr aralstnsdp klacrpfhpk rdgfvmgega avlvleeyeh avqrrariya
      301 evlgyglsgd aghitapdpe gegalrcmaa alkdagvqpe eisyinahat stplgdaaen
      361 kaikhlfkdh ayalavsstk gatghllgaa gaveaafttl acyyqklppt lnldcsepef
      421 dlnyvplkaq ewktekrfig ltnsfgfggt natlciagl
//
LOCUS       XP_005265519             826 aa            linear   PRI 20-MAR-2023
DEFINITION  sarcolemmal membrane-associated protein isoform X6 [Homo sapiens].
ACCESSION   XP_005265519
VERSION     XP_005265519.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005265462.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..826
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..826
                     /product="sarcolemmal membrane-associated protein isoform
                     X6"
                     /calculated_mol_wt=94695
     Region          3..132
                     /region_name="FHA_SLMAP"
                     /note="forkhead associated (FHA) domain found in
                     sarcolemmal membrane-associated protein (SLMAP) and
                     similar proteins; cd22679"
                     /db_xref="CDD:438731"
     Site            order(31..33,50..53,55,74..77,107..109)
                     /site_type="other"
                     /note="putative phosphopeptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438731"
     Region          <165..793
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          165..227
                     /region_name="CC1_SLMAP"
                     /note="first coiled-coil (CC1) domain found in Sarcolemmal
                     membrane-associated protein; cd21911"
                     /db_xref="CDD:409287"
     Site            order(173,176..177,180,183..184,187,191,194,197..198,
                     201..202,204..205)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:409287"
     CDS             1..826
                     /gene="SLMAP"
                     /gene_synonym="SLAP"
                     /coded_by="XM_005265462.5:1139..3619"
                     /db_xref="GeneID:7871"
                     /db_xref="HGNC:HGNC:16643"
                     /db_xref="MIM:602701"
ORIGIN      
        1 mpsalaiftc rpnshpfqer hvyldepiki grsvarcrpa qnnatfdckv lsrnhalvwf
       61 dhktgkfylq dtkssngtfi nsqrlsrgse esppceilsg diiqfgvdvt entrkgtvth
      121 gcivstiklf lpdgmearlr sdvihaplps pvdkvaantp smysqelfql sqylqealhr
      181 eqmleqklat lqrllaitqe asdtswqali dedrllsrle vmgnqlqacs knqtedslrk
      241 elialqedkh nyettakesl rrvlqekiev vrklsevers lsntedecth lkemnertqe
      301 elrelankyn gavneikdls dklkvaegkq eeiqqkgqae kkelqhkide meekeqelqa
      361 kiealqadnd ftnerltalq vrlehlqekt lkecsslgiq vddflpking stekeklive
      421 ghltkaveet klskenqtra kesdfsdtls pskekssddt tdaqmdeqdl neplakvsll
      481 kddlqgaqse ieakqeiqhl rkelieaqel artskqkcfe lqalleeerk ayrnqveest
      541 kqiqvlqaql qrlhidtenl reekdseits trdellsard eilllhqaaa kvaserdtdi
      601 aslqeelkkv raelerwrka aseyekeits lqnsfqlrcq qcedqqreea trlqgelekl
      661 rkewnalete chslkrenvl lsselqrqek elhnsqkqsl eltsdlsilq msrkelenqv
      721 gslkeqhlrd sadlktllsk aenqakdvqk eyektqtvls elklkfemte qekqsitdel
      781 kqcknnlkll rekgnnkpwp wmpmlaalva vtaivlyvpg larasp
//
LOCUS       XP_047305163             458 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat flightless-interacting protein 2 isoform X24
            [Homo sapiens].
ACCESSION   XP_047305163
VERSION     XP_047305163.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449207.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..458
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..458
                     /product="leucine-rich repeat flightless-interacting
                     protein 2 isoform X24"
                     /calculated_mol_wt=52093
     Region          47..383
                     /region_name="LRRFIP"
                     /note="LRRFIP family; pfam09738"
                     /db_xref="CDD:430789"
     CDS             1..458
                     /gene="LRRFIP2"
                     /gene_synonym="HUFI-2"
                     /coded_by="XM_047449207.1:467..1843"
                     /db_xref="GeneID:9209"
                     /db_xref="HGNC:HGNC:6703"
                     /db_xref="MIM:614043"
ORIGIN      
        1 mgtpasgrkr tpvkdrfsae dealsniare aearlaakra araeardirm relerqqkee
       61 dseraryshr sshhrpylgv edalsirsvg shrldeksdk qyaenytrps srnsasattp
      121 lsgnssrrgs gdtsslidpd tslselrdiy dlkdqiqdve grymqglkel keslseveek
      181 ykkamvsnaq ldneknnliy qvdtlkdvie eqeeqmaefy reneekskel erqkhmcsvl
      241 qhkmeelkeg lrqrdeliek hglviipdgt pngdvshepv agaitvvsqe aaqvlesage
      301 gpldvrlrkl agekeellsq irklklqlee erqkcsrndg tvgdlaglqn gsdlqfiemq
      361 rdanrqisey kfklskaeqd ittleqsisr legqvlrykt aaenaekved elkaekrklq
      421 relrtaldki eememtnshl akrlekmkan rtallaqq
//
LOCUS       XP_047271693            1079 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase Nek1 isoform X7 [Homo sapiens].
ACCESSION   XP_047271693
VERSION     XP_047271693.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047415737.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1079
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1079
                     /product="serine/threonine-protein kinase Nek1 isoform X7"
                     /calculated_mol_wt=121942
     Region          <1..51
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          <293..>582
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     CDS             1..1079
                     /gene="NEK1"
                     /gene_synonym="ALS24; NY-REN-55; SRPS2; SRPS2A; SRTD6"
                     /coded_by="XM_047415737.1:406..3645"
                     /db_xref="GeneID:4750"
                     /db_xref="HGNC:HGNC:7744"
                     /db_xref="MIM:604588"
ORIGIN      
        1 mknlvlkiis gsfppvslhy sydlrslvsq lfkrnprdrp svnsilekgf iakriekfls
       61 pqliaeefcl ktfskfgsqp ipakrpasgq nsisvmpaqk itkpaakygi playkkygdk
      121 klhekkplqk hkqahqtpek rvntgeerrk iseeaarkrr lefiekekkq kdqiislmka
      181 eqmkrqeker lerinrareq gwrnvlsagg sgevkapflg sggtiapssf ssrgqyehyh
      241 aifdqmqqqr aedneakwkr eiygrglper gilpgvrpgf pygaaghhhf pdaddirktl
      301 krlkavskqa nanrqkgqla verakqveef lqrkreamqn karaeghmgi lqnlaamygg
      361 rpsssrggkp rnkeeevyla rlrqirlqnf nerqqikakl rgekkeanhs egqegseead
      421 mrrkkieslk ahanaraavl keqlerkrke ayerekkvwe ehlvakgvks sdvspplgqh
      481 etggspskqq mrsvisvtsa lkevgvdssl tdtretseem qktnnaissk reilrrlnen
      541 lkaqedekgk qnlsdtfein vhedakehek eksvssdrkk weaggqlvip ldeltldtsf
      601 stterhtvge viklgpngsp rrawgksptd svlkilgeae lqlqtellen ttirseispe
      661 gekykplitg ekkvqcishe inpsaivdsp vetkspefse aspqmslkle gnleepddle
      721 teilqepsgt nkdeslpcti tdvwiseeke tketqsadri tiqenevsed gvsstvdqls
      781 dihiepgtnd sqhskcdvdk svqpepffhk vvhsehlnlv pqvqsvqcsp eesfafrshs
      841 hlppknknkn slliglstgl fdannpkmlr tcslpdlskl frtlmdvptv gdvrqdnlei
      901 deiedenike gpsdsedivf eetdtdlqel qasmeqllre qpgeeyseee esvlknsdve
      961 ptangtdvad eddnpssesa lneewhsdns dgeiasecec dsvfnhleel rlhleqemgf
     1021 ekffevyeki kaihededen ieicskivqn ilgnehqhly akilhlvmad gayqednde
//
LOCUS       XP_024309884             722 aa            linear   PRI 20-MAR-2023
DEFINITION  la-related protein 1B isoform X34 [Homo sapiens].
ACCESSION   XP_024309884
VERSION     XP_024309884.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024454116.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..722
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..722
                     /product="la-related protein 1B isoform X34"
                     /calculated_mol_wt=80708
     Region          <311..>481
                     /region_name="LHP1"
                     /note="La protein, small RNA-binding pol III transcript
                     stabilizing protein and related La-motif-containing
                     proteins involved in translation [Posttranslational
                     modification, protein turnover, chaperones / Translation,
                     ribosomal structure and biogenesis]; COG5193"
                     /db_xref="CDD:227520"
     Region          417..489
                     /region_name="LARP_2"
                     /note="La RNA-binding domain of La-related protein 2;
                     cd08038"
                     /db_xref="CDD:153407"
     Site            order(423,426..427,432,435..436,438,457..459)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:153407"
     CDS             1..722
                     /gene="LARP1B"
                     /gene_synonym="LARP2"
                     /coded_by="XM_024454116.2:383..2551"
                     /db_xref="GeneID:55132"
                     /db_xref="HGNC:HGNC:24704"
ORIGIN      
        1 mstrapmpaa hsredppavt aeresllaaa nrpaeqpppp ecegkeaare eraaaatsag
       61 argepspalv lgrsvpqaav pvrplalhla hkargpggpf ggeppppppp psplppllrd
      121 ppaedareev aagpaekrqp pllppkgnpw tkkppqhlsp dttgpppppl etleaefgsl
      181 kiikagklkt kksnkasdfs dmenwptpse lvntgfqsvl sqgnkkpqnr kekeekvekr
      241 snsdskenre tklngpgenv sedeaqssnq rkrankhkwv plhldvvrse sqerpgsrns
      301 srcqpeankp thnnrrndtr swkrdrekrd dqddvssvrs eggnirgsfr grgrgrgrgr
      361 grgrgnprln fdysygyqeh gertdqpfqt elntsmmyyy ddgtgvqvyp veeallkeyi
      421 krqieyyfsv enlerdfflr gkmdeqgflp isliagfqrv qalttnlnli lealkdstev
      481 eivdekmrkk iepekwpipg ppprsvpptd fsqlidcpef vpgqafcsht esapnsprig
      541 splspkknse tsilqamsrg lstslpdlds epwievkkrh qpapvklres vsvpegslnq
      601 lcsseepeqe eldflfdeei eqigrkntft dwsdndsdye iddqdlnkil ivtqtppyvk
      661 khpggdrtgt hmsrakitse lakvindgly yyeqdlwmee denkhtaike vfkecftfpr
      721 ki
//
LOCUS       XP_047273471             861 aa            linear   PRI 20-MAR-2023
DEFINITION  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing
            protein 3 isoform X15 [Homo sapiens].
ACCESSION   XP_047273471
VERSION     XP_047273471.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417515.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..861
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..861
                     /product="arf-GAP with Rho-GAP domain, ANK repeat and PH
                     domain-containing protein 3 isoform X15"
                     /calculated_mol_wt=92764
     Region          4..66
                     /region_name="SAM_Arap1,2,3"
                     /note="SAM domain of Arap1,2,3 (angiotensin
                     receptor-associated protein); cd09490"
                     /db_xref="CDD:188889"
     Site            order(17,41,56..57,60)
                     /site_type="other"
                     /note="heterodimer interface EH [polypeptide binding]"
                     /db_xref="CDD:188889"
     Region          289..381
                     /region_name="PH1_ARAP"
                     /note="ArfGAP with RhoGAP domain, ankyrin repeat and PH
                     domain Pleckstrin homology (PH) domain, repeat 1; cd13253"
                     /db_xref="CDD:270073"
     Region          398..479
                     /region_name="PH2_ARAP"
                     /note="ArfGAP with RhoGAP domain, ankyrin repeat and PH
                     domain Pleckstrin homology (PH) domain, repeat 2; cd13254"
                     /db_xref="CDD:270074"
     Region          489..604
                     /region_name="ArfGap_ARAP3"
                     /note="ArfGap with Rho-Gap domain, ANK repeat and PH
                     domain-containing protein 3; cd17902"
                     /db_xref="CDD:350089"
     Site            order(504,507,524,527,532)
                     /site_type="other"
                     /note="arginine finger"
                     /db_xref="CDD:350089"
     Site            order(504,507,524,527)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:350089"
     Region          676..785
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     CDS             1..861
                     /gene="ARAP3"
                     /gene_synonym="CENTD3; DRAG1"
                     /coded_by="XM_047417515.1:374..2959"
                     /db_xref="GeneID:64411"
                     /db_xref="HGNC:HGNC:24097"
                     /db_xref="MIM:606647"
ORIGIN      
        1 maapqdldia vwlatvhleq yadtfrrhgl atagaarglg heelkqlgis atghrkrilr
       61 llqtgteegs ldpksdsame pspspapqaq ppkpvpkprt vfgglsgpat tqrpglspal
      121 ggpgvsrspe psprppplpt ssseqssaln tvemmpnsiy fgldsrgraq aaqdkapdss
      181 qisaptpalr pttgtvhimd pgclyygvqp vgtpgapdrr esrgvcqgra ehrlsrqdle
      241 aredagyasl elpgdstlls ptleteetsd dlispyasfs ftadrltpll sgwldklspq
      301 gnyvfqrrfv qfngrslmyf gsdkdpfpkg vipltaiemt rsskdnkfqv itgqrvfvfr
      361 teseaqrdmw cstlqsclke qrllghprpp qpprplrtgm lelrghkakv faalspgela
      421 lykseqafsl gigicfielq gcsvretksr sfdlltphrc fsftaesgga rqswaaalqe
      481 avtetlsdye vaekiwsnra nrqcadcgss rpdwaavnlg vvickqcagq hralgsgisk
      541 vqslkldtsv wsneivqlfi vlgndranrf wagtlppgeg lhpdatpgpr gefisrkyrl
      601 glfrkphpqy pdhsqllqal caavarpnll knmtqllcve afegeepwfp papdgscpgl
      661 lpsdpspgvy nevvvratys gflycspvsn kagpspprrg rdapprlwcv lgaalemfas
      721 enspeplsli qpqdivclgv sppptdpgdr fpfsfelila ggriqhfgtd gadsleawts
      781 avgkavlpgg ccedchtila pglcvmvhdr istelemvlp aelppaagpr aaaagppmaa
      841 vplpyspgpw slavrvwpps w
//
LOCUS       XP_047274997            1212 aa            linear   PRI 20-MAR-2023
DEFINITION  transcriptional-regulating factor 1 isoform X3 [Homo sapiens].
ACCESSION   XP_047274997
VERSION     XP_047274997.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419041.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1212
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1212
                     /product="transcriptional-regulating factor 1 isoform X3"
                     /calculated_mol_wt=133523
     Region          514..534
                     /region_name="zf-C2H2_6"
                     /note="C2H2-type zinc finger; pfam13912"
                     /db_xref="CDD:433576"
     Region          781..835
                     /region_name="ELM2"
                     /note="ELM2 domain; pfam01448"
                     /db_xref="CDD:426267"
     Region          889..933
                     /region_name="SANT"
                     /note="'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains.
                     Tandem copies of the domain bind telomeric DNA tandem
                     repeatsas part of the capping complex. Binding is sequence
                     dependent for repeats which contain the G/C rich motif
                     [C2-3 A (CA)1-6]. The domain is...; cl21498"
                     /db_xref="CDD:451276"
     Site            order(890,919..920,922..923,925..927,929..931)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:212559"
     Region          1097..1120
                     /region_name="zf-C2H2_6"
                     /note="C2H2-type zinc finger; pfam13912"
                     /db_xref="CDD:433576"
     Region          1098..1120
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275369"
     Site            order(1098,1105,1107..1109,1111..1112,1116,1119)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275369"
     CDS             1..1212
                     /gene="TRERF1"
                     /gene_synonym="BCAR2; dJ139D8.5; HSA277276; RAPA;
                     TReP-132; TREP132"
                     /coded_by="XM_047419041.1:708..4346"
                     /db_xref="GeneID:55809"
                     /db_xref="HGNC:HGNC:18273"
                     /db_xref="MIM:610322"
ORIGIN      
        1 mgdqqlyktn hvahgsenlf yqqpplgvhs glnhnygnav tgggmdapqa spisphfpqd
       61 trdglglpvg sknlgqmdts rqggwgshag pgnhvqlrgn lansnmmwga paqaeptdgy
      121 qytysqasei rtqkltsgvl hkldsftqvf anqnlriqvn nmaqvlhtqs avmdgapdsa
      181 lrqllsqkpm eppapaipsr yqqvpqqphp gftgglskpa lqvgqhptqg hlyydyqqpl
      241 aqvpvqggqp lqapqmlsqh mqqmqqhqyy ppqqqqqagq qrismqeiqt qpqqirpsqp
      301 qpppqqqqpq qlqlqqrqgs mqipqyyqpq pmmqhlqeqq qqqmhlqpps yhrdphqytp
      361 eqahtvqlip lgsmsqyyyq epqqpyshpl yqqshlsqhq qredsqlkty ssdrqaqaml
      421 sshgdlgppd tgmgdpassd ltrvsstlph rpllspsgih lnnmgpqhqq lspsamwpqm
      481 hlpdgraqpg spessgqpkg afgeqfdakn kltcsiclke fknlpalngh mrshggmras
      541 pnlkqeegek vlppqpqppl pppppppppp qlppeaeslt pmvmpvsvpv kllppkpssq
      601 gftnstvaap sardkpassm sddempvlei prkhqpsvpk aeeplktvqe kkkfrhrpep
      661 lfippppsyn pnpaasysga tlyqsqlrsp rvlgdhllld pthelppytp ppmlspvrqg
      721 sglfsnvlis ghgpgahpql pltpltptpr vllcrsnsid gsnvtvtpgp geqtvdvepr
      781 iniglrfqae ipelqdisal aqdthkatlv wkpwpelenh dlqqrvenll nlccssalpg
      841 ggtnsefalh slfeakgdvm valemlllrk pvrlkchpla nyhyagsdkw tslerklfnk
      901 alatyskdfi fvqkmvkskt vaqcveyyyt wkkimrlgrk hrtrlaeiid dcvtseeeee
      961 leeeeeedpe edrkstkeee sevpkspepp pvpvlapteg pplqalgqps gsficempnc
     1021 gadcrchvtp flpqvfssrq alngharihg gtnqvtkarg aipsgkqkpg gtqsgycsvk
     1081 sspshsttsg etdpttifpc kecgkvffki ksrnahmkth rqqeeqqrqk aqkaafaaem
     1141 aatierttgp vgapgllpld qlslikpikd vdildddvvq qlggvmeeae vvdtdllldd
     1201 qdsvllqgda el
//
LOCUS       XP_011513088             477 aa            linear   PRI 20-MAR-2023
DEFINITION  ectonucleotide pyrophosphatase/phosphodiesterase family member 5
            isoform X1 [Homo sapiens].
ACCESSION   XP_011513088
VERSION     XP_011513088.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514786.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..477
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..477
                     /product="ectonucleotide pyrophosphatase/phosphodiesterase
                     family member 5 isoform X1"
                     /calculated_mol_wt=54535
     Region          28..382
                     /region_name="Enpp"
                     /note="Ectonucleotide pyrophosphatase/phosphodiesterase,
                     also called autotaxin; cd16018"
                     /db_xref="CDD:293742"
     Site            order(36,71..72,93,191,195,238..239,339)
                     /site_type="active"
                     /db_xref="CDD:293742"
     Site            order(36,71..72,93,191,195,239,339)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:293742"
     Site            364..366
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:293742"
     CDS             1..477
                     /gene="ENPP5"
                     /gene_synonym="NPP-5; NPP5"
                     /coded_by="XM_011514786.4:135..1568"
                     /db_xref="GeneID:59084"
                     /db_xref="HGNC:HGNC:13717"
                     /db_xref="MIM:617001"
ORIGIN      
        1 mtskfllvsf ilaalslstt fslqpdqqkv llvsfdgfrw dylykvptph fhyimkygvh
       61 vkqvtnvfit ktypnhytlv tglfaenhgi vandmfdpir nksfsldhmn iydskfweea
      121 tpiwitnqra ghtsgaamwp gtdvkihkrf pthympynes vsfedrvaki iewftskepi
      181 nlgllywedp ddmghhlgpd splmgpvisd idkklgyliq mlkkaklwnt lnliitsdhg
      241 mtqcseerli eldqyldkdh ytlidqspva ailpkegkfd evyealthah pnltvykked
      301 vperwhykyn sriqpiiava degwhilqnk sddfllgnhg ydnaladmhp iflahgpafr
      361 knfskeamns tdlypllchl lnitamphng sfwnvqdlln samprvvpyt qstillpgsv
      421 kpaeydqegs ypyfigvslg siivivffvi fikhlihsqi palqdmhaei aqpllqa
//
LOCUS       XP_011513212             356 aa            linear   PRI 20-MAR-2023
DEFINITION  G patch domain and ankyrin repeat-containing protein 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_011513212
VERSION     XP_011513212.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514910.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..356
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..356
                     /product="G patch domain and ankyrin repeat-containing
                     protein 1 isoform X1"
                     /calculated_mol_wt=39183
     Region          104..163
                     /region_name="Ank_4"
                     /note="Ankyrin repeats (many copies); pfam13637"
                     /db_xref="CDD:372654"
     Site            order(113..115,117..118,122,125,140,142,144,148..149,
                     152..154,156..157,161,164,174,176,178,182..183,186..188,
                     190..191,195)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          142..174
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          256..299
                     /region_name="G-patch"
                     /note="G-patch domain; pfam01585"
                     /db_xref="CDD:396249"
     CDS             1..356
                     /gene="GPANK1"
                     /gene_synonym="ANKRD59; BAT4; D6S54E; G5; GPATCH10"
                     /coded_by="XM_011514910.2:1065..2135"
                     /db_xref="GeneID:7918"
                     /db_xref="HGNC:HGNC:13920"
                     /db_xref="MIM:142610"
ORIGIN      
        1 msrpllitft patdpsdlwk dgqqqpqpek pestldgaaa rafyealigd essapdsqrs
       61 qteparerkr kkrrimkapa aeavaegasg rhgqgrslea edkmthrilr aaqegdlpel
      121 rrllepheag gaggninard afwwtplmca aragqgaavs yllgrgaawv gvcelsgrda
      181 aqlaeeagfp evarmvresh getrspenrs ptpslqycen cdthfqdsnh rtstahllsl
      241 sqgpqppnlp lgvpisspgf klllrggwep gmglgprgeg ranpiptvlk rdqeglgyrs
      301 apqprvthfp awdtravagr erpprvatls wreerrreek drawerdlrt ymnlef
//
LOCUS       XP_047275844             310 aa            linear   PRI 20-MAR-2023
DEFINITION  putative transporter SVOPL isoform X4 [Homo sapiens].
ACCESSION   XP_047275844
VERSION     XP_047275844.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419888.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..310
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..310
                     /product="putative transporter SVOPL isoform X4"
                     /calculated_mol_wt=33681
     Region          <6..298
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     CDS             1..310
                     /gene="SVOPL"
                     /gene_synonym="SLC22B5"
                     /coded_by="XM_047419888.1:99..1031"
                     /db_xref="GeneID:136306"
                     /db_xref="HGNC:HGNC:27034"
                     /db_xref="MIM:611700"
ORIGIN      
        1 maagrliikt eflptkyrgy mlplsqvfwl agslliigla sviiptigwr wlirvasipg
       61 iilivafkfi pesarfnvst gntraalatl ervakmnrsv mpegklvepv lekrgrfadl
      121 ldakylrttl qiwviwlgis fayygvilas aellerdlvc gsksdsavvv tggdsgesqs
      181 pcychmfaps dyrtmiisti geialnplni lginflgrrl slsitmgcta lfflllnict
      241 ssagligflf mlralvaanf ntvyiytaev lmsasilgal clfssvcvvc aisaftlpie
      301 tkgralqqik
//
LOCUS       XP_016868314            1950 aa            linear   PRI 20-MAR-2023
DEFINITION  dedicator of cytokinesis protein 4 isoform X9 [Homo sapiens].
ACCESSION   XP_016868314
VERSION     XP_016868314.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017012825.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1950
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1950
                     /product="dedicator of cytokinesis protein 4 isoform X9"
                     /calculated_mol_wt=223167
     Region          44..96
                     /region_name="SH3_DOCK4_B"
                     /note="Src Homology 3 domain of Class B Dedicator of
                     Cytokinesis 4; cd12049"
                     /db_xref="CDD:212982"
     Site            order(44..47,54,59..61,63,67..68,72..73,75,83,85,87,89,
                     91..92,94,96)
                     /site_type="other"
                     /note="ELMO interaction site [polypeptide binding]"
                     /db_xref="CDD:212982"
     Site            order(46,48,51,55,72..73,89,91..92)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212982"
     Region          100..423
                     /region_name="DOCK_N"
                     /note="DOCK N-terminus; pfam16172"
                     /db_xref="CDD:435187"
     Region          431..615
                     /region_name="C2_Dock-B"
                     /note="C2 domains found in Dedicator Of CytoKinesis (Dock)
                     class B proteins; cd08695"
                     /db_xref="CDD:176077"
     Region          1237..1627
                     /region_name="DHR2_DOCK4"
                     /note="Dock Homology Region 2, a GEF domain, of Class B
                     Dedicator of Cytokinesis 4; cd11705"
                     /db_xref="CDD:212578"
     Site            order(1317,1327,1329..1330,1332..1333,1336..1337,
                     1339..1340,1343..1344)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:212578"
     Site            order(1355,1357,1381,1384..1387,1389..1390,1403..1405,
                     1422..1424,1458..1461,1472..1473,1476,1478,1515..1516,
                     1519,1539..1540,1542..1543,1546..1548,1551..1553,
                     1556..1557,1560,1590,1612,1615)
                     /site_type="other"
                     /note="putative Rac/Cdc42 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:212578"
     Site            1551..1556
                     /site_type="other"
                     /note="nucleotide sensor"
                     /db_xref="CDD:212578"
     CDS             1..1950
                     /gene="DOCK4"
                     /coded_by="XM_017012825.2:567..6419"
                     /db_xref="GeneID:9732"
                     /db_xref="HGNC:HGNC:19192"
                     /db_xref="MIM:607679"
ORIGIN      
        1 mgcvccgaga lvnfnicaar ffglwrrtgi savflllatl stpviasfrg tvpyglslei
       61 gdtvqilekc dgwyrgfalk npnikgifps syvhlknacv knkgqfemvi ptedsvitem
      121 tstlrdwgtm wkqlyvrneg dlfhrlwhim neildlrrqv lvghlthdrm kdvkrhitar
      181 ldwgneqlgl dlvprkeyam vdpedisite lyrlmehrhr kkdtpvqass hhlfvqmksl
      241 mcsnlgeele vifslfdske nrpiserffl rlnrnglpka pdkperhcsl fvdlgsselr
      301 kdiyitvhii rigrmgagek knacsvqyrr pfgcavlsia dlltgetkdd lilkvymcnt
      361 esewyqihen iikklnaryn ltgsnaglav slqllhgdie qirreyssvf shgvsitrkl
      421 gfsniimpge mrndlyitie rgefekggks varnvevtmf ivdssgqtlk dfisfgsgep
      481 paseyhsfvl yhnnsprwse llklpipvdk frgahirfef rhcstkekge kklfgfsfvp
      541 lmqedgrtlp dgthelivhk ceentnlqdt trylklpfsk giflgnnnqa mkatkesfci
      601 tsflcstklt qngdmldllk wrthpdkitg clsklkeidg seivkflqdt ldtlfgilde
      661 nsqkygskvf dslvhiinll qdskfhhfkp vmdtyieshf agalayrdli kvlkwyvdri
      721 teaerqehiq evlkaqeyif kyivqsrrlf slatggqnee efrcciqell msvrfflsqe
      781 skgsgalsqs qavflssfpa vysellklfd vrevanlvqd tlgslptilh vddslqaikl
      841 qcigktvesq lytnpdsryi llpvvlhhlh ihlqeqkdli mcarilsnvf clikknssek
      901 svleeidviv aslldillrt ileitsrpqp sssamrfqfq dvtgefvacl lsllrqmtdr
      961 hyqqlldsfn tkeelrdfll qiftvfrili rpemfpkdwt vmrlvannvi ittvlylsda
     1021 lrknflnenf dykiwdsyfy lavifinqlc lqlemftpsk kkkvlekygd mrvtmgceif
     1081 smwqnlgehk lhfipaligp flevtlipqp dlrnvmipif hdmmdweqrr sgnfkqveak
     1141 lidkldslms egkgdetyre lfnsiiplfg pypsllkkie retwresgvs liatvtrlme
     1201 rlldyrdcmk mgevdgkkig ctvsllnfyk telnkeemyi ryihklydlh lkaqnfteaa
     1261 ytlllydell ewsdrplref ltypmqtewq rkehlhltii qnfdrgkcwe ngiilcrkia
     1321 eqyesyydyr nlskmrmmea slydkimdqq rlepeffrvg fygkkfpffl rnkefvcrgh
     1381 dyerleafqq rmlnefphai amqhanqpde tifqaeaqyl qiyavtpipe sqevlqregv
     1441 pdniksfykv nhiwkfrydr pfhkgtkdke nefkslwver tslylvqslp gisrwfevek
     1501 revvemsple naievlenkn qqlktlisqc qtrqmqninp ltmclngvid aavnggvsry
     1561 qeaffvkeyi lshpedgeki arlrelmleq aqilefglav hekfvpqdmr plhkklvdqf
     1621 fvmksslgiq efsacmqasp vhfpngsprv crnsapasvs pdgtrviprr splsypavnr
     1681 ysssslssqa saepspstss lssthsaspn vtssapssar aspllsdkhk hsrensclsp
     1741 rerpcsaiyp tpvepsqrml fnhigdgalp rsdpnlsape kasparhtts vspspagrsp
     1801 lkgsvqsftp spveyhspgl isnspvlsgs yssgisslsr cstsetsgfe nqvneqsapl
     1861 pvpvpvpvps yggeepvrke sktpppysvy ertlrrpvpl phslsipvts eppalppkpl
     1921 aarsshleng arrtdpgprp rplprkvsql
//
LOCUS       XP_047297686            4381 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase HUWE1 isoform X15 [Homo sapiens].
ACCESSION   XP_047297686
VERSION     XP_047297686.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441730.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4381
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..4381
                     /product="E3 ubiquitin-protein ligase HUWE1 isoform X15"
                     /calculated_mol_wt=482510
     Region          92..374
                     /region_name="DUF908"
                     /note="Domain of Unknown Function (DUF908); pfam06012"
                     /db_xref="CDD:428721"
     Region          438..821
                     /region_name="DUF913"
                     /note="Domain of Unknown Function (DUF913); pfam06025"
                     /db_xref="CDD:428726"
     Region          1324..1363
                     /region_name="UBA_HUWE1"
                     /note="UBA domain found in eukaryotic E3 ubiquitin-protein
                     ligase HUWE1 and similar proteins; cd14288"
                     /db_xref="CDD:270474"
     Region          1624..1685
                     /region_name="WWE"
                     /note="WWE domain; pfam02825"
                     /db_xref="CDD:427006"
     Region          <2742..3073
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          2967..2999
                     /region_name="DUF4414"
                     /note="Domain of unknown function (DUF4414); pfam14377"
                     /db_xref="CDD:433918"
     Region          3017..3048
                     /region_name="DUF4414"
                     /note="Domain of unknown function (DUF4414); pfam14377"
                     /db_xref="CDD:433918"
     Region          4026..4379
                     /region_name="HECTc"
                     /note="HECT domain; C-terminal catalytic domain of a
                     subclass of Ubiquitin-protein ligase (E3). It binds
                     specific ubiquitin-conjugating enzymes (E2), accepts
                     ubiquitin from E2, transfers ubiquitin to substrate lysine
                     side chains, and transfers additional...; cd00078"
                     /db_xref="CDD:238033"
     Site            order(4030,4060,4071,4132,4306,4342..4343,4346..4350,4370,
                     4378)
                     /site_type="active"
                     /note="catalytic cleft [active]"
                     /db_xref="CDD:238033"
     Site            order(4160,4163..4164,4166..4167,4170,4177,4179,
                     4183..4184,4186,4191,4196,4213,4217)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..4381
                     /gene="HUWE1"
                     /gene_synonym="ARF-BP1; HECTH9; HSPC272; Ib772; LASU1;
                     MRXST; MULE; URE-B1; UREB1"
                     /coded_by="XM_047441730.1:498..13643"
                     /db_xref="GeneID:10075"
                     /db_xref="HGNC:HGNC:30892"
                     /db_xref="MIM:300697"
ORIGIN      
        1 mkvdrtklkk tpteapadcr alidklkvcn deqlllelqq iktwnigkce lyhwvdlldr
       61 fdgiladagq tvenmswmlv cdrpereqlk mlllavlnft allieysfsr hlyssiehlt
      121 tllassdmqv vlavlnllyv fskrsnyitr lgsdkrtpll trlqhlaesw ggkengfgla
      181 eccrdlhmmk yppsattlhf efyadpgaev kiekrttsnt lhyihieqld kisespseim
      241 esltkmysip kdkqmllfth irlahgfsnh rkrlqavqar lhaisilvfv spfavysnal
      301 qesansilyn glieelvdvl qitdkqlmei kaaslrtlts ivhlertpkl ssiidctgta
      361 syhgflpvlv rnciqamidp smdpyphqfa talfsflyhl asydaggeal vscgmmeall
      421 kvikflgdeq dqitfvtrav rvvdlitnld maafqshsgl sifiyrlehe vdlcrkecpf
      481 vikpkiqrpn ttqegeemet dmdgvqcipq raallksmln flkkaiqdpa fsdgirhvmd
      541 gslptslkhi isnaeyygps lfllatevvt vfvfqepsll sslqdngltd vmlhallikd
      601 vpatrevlgs lpnvfsalcl narglqsfvq cqpferlfkv llspdylpam rrrrssdplg
      661 dtasnlgsav delmrhqptl ktdattaiik lleeicnlgr dpkyicqkps iqkadgtata
      721 ppprsnhaae eassedeeee evqamqsfns tqqnetepnq qvvgteerip iplmdyilnv
      781 mkfvesilsn nttddhcqef vnqkgllplv tilglpnlpi dfptsaacqa vagvcksilt
      841 lshepkvlqe gllqldsils sleplhrpie spggsvllre lacagnvada tlsaqatpll
      901 haltaahayi mmfvhtcrvg qseirsisvn qwgsqlglsv lsklsqlycs lvwestvlls
      961 lctpnslpsg cefgqadmqk lvpkdekagt tqggkrsdge qdgaagsmda stqgllegig
     1021 ldgdtlapme tdeptasdsk gkskitpama arikqikpll sassrlgral aelfgllvkl
     1081 cvgspvrqrr shhaasttta ptpaarstas altklltkgl swqpppytpt prfrltffic
     1141 svgftspmlf derkypyhlm lqkflcsggh nalfetfnwa lsmggkvpvs eglehsdlpd
     1201 gtgefldawl mlvekmvnpt tvlesphslp aklpggvqnf pqfsalrflv vtqkaaftci
     1261 knlwnrkplk vyggrmaesm lailchilrg epvirerlsk ekegsrgeed tgqeeggsrr
     1321 epqvnqqqlq qlmdmgftre hameallnts tmeqateyll thpppimggv vrdlsmseed
     1381 qmmraiamsl gqdipmdqra espeevacrk eeeerkarek qeeeeakcle kfqdadpleq
     1441 delhtftdtm lpgcfhllde lpdtvyrvcd limtaikrng adyrdmilkq vvnqvweaad
     1501 vlikaalplt tsdtktvsew isqmatlpqa snlatrilll tllfeelklp cawvvessgi
     1561 lnvlikllev vqpclqaake qkevqtpkwi tpvlllidfy ektaisskrr aqmtkylqsn
     1621 snnwrwfddr sgrwcsysas nnstidsawk sgetsvrfta grrrytvqft tmvqvneetg
     1681 nrrpvmltll rvprlnknsk nsngqelekt leeskemdik rkenkgndtp lalestntek
     1741 etsleetkig eiliqglted mvtvliracv smlgvpvdpd tlhatlrlcl rltrdhkyam
     1801 mfaelkstrm ilnltqssgf ngftplvtll lrhiiedpct lrhtmekvvr saatsgagst
     1861 tsgvvsgslg sreinyilrv lgpaacrnpd iftevancci rialpaprgs gtasddefen
     1921 lrikgpnavq lvkttplkps plpvipdtik eviydmlnal aayhapeead ksdpkpgvmt
     1981 qevgqllqdm gddvyqqyrs ltrqssdfdt qsgfsinsqv faadgastet sasgtsqgea
     2041 stpeesrdgk kdkegdrase egkqkgkgsk plmptstilr llaelvrsyv giatlianys
     2101 ytvgqselik edcsvlafvl dhllphtqna edkdtpalar lflaslaaag sgtdaqvalv
     2161 nevkaalgra lamaestekh arlqavmcii stimescpst ssfyssatak tqhngmnnii
     2221 rlflkkglvn dlarvphsld lsspnmantv naalkpletl srivnqpssl fgsksasskn
     2281 kseqdaqgas qdsssnqqdp gepgeaevqe edhdvtqtev adgdimdgea etdsvviagq
     2341 pevlssqemq veneledlid ellerdggsg nstiivsrsg edesqedvlm deapsnlsqa
     2401 stlqanreds mnildpedee ehtqeedssg snededdsqd eeeeeeedee ddqeddegee
     2461 gdedddddgs emeldedypd mnasplvrfe rfdreddlii efdnmfssat dippspgnip
     2521 tthplmvrha dhssltlgsg ssttrltqgi grsqrtlrql tantghtihv hypgnrqpnp
     2581 plilqrllgp saaadilqls sslplqsrgr arllvgnddv hiiarsddel lddffhdqst
     2641 atsqagtlss iptaltrwte eckvldaesm hdcvsvvkvs ivnhleflrd eeleerrekr
     2701 rkqlaeeetk itdkgkedke nrdqsaqcta sksndsteqn lsdgtpmpds ypttpsstda
     2761 atsesketlg tlqssqqqpt lptppalgev pqelqspage ggsstqllmp vepeelgptr
     2821 psgeaettqm elspaptits lsperaedsd altavssqle gspmdtssla sctleeavgd
     2881 tsaagsseqp ragsstpgda ppavaevqgr sdgsgesaqp pedssppass essstrdsav
     2941 aisgadsrgi leeplpstss eeedplagis lpegvdpsfl aalpddirre vlqnqlgirp
     3001 ptrtapstns sapavvgnpg vtevspefla alppaiqeev laqqraeqqr relaqnassd
     3061 tpmdpvtfiq tlpsdlrrsv ledmedsvla vmppdiaaea qalrreqear qrqlmherlf
     3121 ghsstsalsa ilrspaftsr lsgnrgvqyt rlavqrggtf qmggssshnr psgsnvdtll
     3181 rlrgrllldh ealscllvll fvdepklnts rlhrvlrnlc yhaqtrhwvi rsllsilqrs
     3241 seselcietp klttseekgk ksskscgsss henrpldllh kmeskssnql swlsvsmdaa
     3301 lgcrtnifqi qrsggrkhte khasggstvh ihpqaapvvc rhvldtliql akvfpshftq
     3361 qrtketnces drergnkacs pcssqssssg ictdfwdllv kldnmnvsrk gknsvksvpv
     3421 saggegetsp ysleasplgq lmnmlshpvi rrsslltekl lrllslisia lpenkvseaq
     3481 ansgsgasst ttatsttstt tttaasttpt pptaptpvts apalvaatai stivvaastt
     3541 vttpttattt vsispttkgs kspakvsdgg ssstdfkmvs sgltenqlql svevltshsc
     3601 seegledaan vllqlsrgds gtrdtvlkll lngarhlgyt lckqigtlla elreynleqq
     3661 rraqcetlsp dglpeeqpqt tklkgkmqsr fdmaenvviv asqkrplggr elqlpsmsml
     3721 tsktstqkff lrvlqviiql rddtrrankk akqtgrlgss glgsassiqa avrqleaead
     3781 aiiqmvregq rarrqqqaat sessqseasv rreespmdvd qpspsaqdtq siasdgtpqg
     3841 ekekeerppe lpllseqlsl delwdmlgec lkeleeshdq havlvlqpav eafflvhate
     3901 reskppvrdt resqlahikd eppplspapl tpatpssldp ffsrepssmh issslppdtq
     3961 kflrfaethr tvlnqilrqs tthladgpfa vlvdyirvld fdvkrkyfrq elerldeglr
     4021 kedmavhvrr dhvfedsyre lhrkspeemk nrlyivfege egqdaggllr ewymiisrem
     4081 fnpmyalfrt spgdrvtyti npsshcnpnh lsyfkfvgri vakavydnrl lecyftrsfy
     4141 khilgksvry tdmesedyhf yqglvyllen dvstlgydlt fstevqefgv cevrdlkpng
     4201 anilvteenk keyvhlvcqm rmtgairkql aaflegfyei ipkrlisift eqelellisg
     4261 lptididdlk snteyhkyqs nsiqiqwfwr alrsfdqadr akflqfvtgt skvplqgfaa
     4321 legmngiqkf qihrddrstd rlpsahtcfn qldlpayesf eklrhmllla iqecsegfgl
     4381 a
//
LOCUS       XP_047297904             756 aa            linear   PRI 20-MAR-2023
DEFINITION  centromere protein I isoform X1 [Homo sapiens].
ACCESSION   XP_047297904
VERSION     XP_047297904.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441948.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..756
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..756
                     /product="centromere protein I isoform X1"
                     /calculated_mol_wt=86590
     Region          9..521
                     /region_name="CENP-I"
                     /note="Mis6; pfam07778"
                     /db_xref="CDD:429654"
     Site            order(141,145,149,179..180,183,186..187,190,193..196,
                     215..217,221,224,227..232,254)
                     /site_type="other"
                     /note="pentamer interface [polypeptide binding]"
                     /db_xref="CDD:439352"
     CDS             1..756
                     /gene="CENPI"
                     /gene_synonym="CENP-I; FSHPRH1; LRPR1"
                     /coded_by="XM_047441948.1:477..2747"
                     /db_xref="GeneID:2491"
                     /db_xref="HGNC:HGNC:3968"
                     /db_xref="MIM:300065"
ORIGIN      
        1 mspqkrvknv qaqnrtsqgs ssfqttlsaw kvkqdpsnsk niskhgqnnp vgdyehaddq
       61 aeedalqmav gyfekgpika sqnkdktlek hlktvenvaw knglaseeid illnialsgk
      121 fgnavntril kcmipatvis edsvvkavsw lcvgkcsgst kvlfyrwlva mfdfidrkeq
      181 inllygfffa slqddalcpy vchllylltk kenvkpfrvr klldlqakmg mqphlqalls
      241 lykffapali svslpvrkki yfknsenlwk tallavkqrn rgpspeplkl mlgpanvrpl
      301 krkwnslsvi pvlnsssytk ecgkkemsls dclnrsgsfp leqlqsfpql lqnihclelp
      361 sqmgsvlnns lllhyincvr depvllrfyy wlsqtlqeec iwykvnnyeh gkeftnfldt
      421 iiraecflqe gfysceafly kslplwdglc crsqflqlvs wipfssfsev kpllfdhlaq
      481 lfftstiyfk csvlqslkel lqnwllwlsm dihmkpvtns plettlggsm nsvsklihyv
      541 gwlsttamrl esnntfllhf ildfyekvcd iyinynlplv vlfppgifys allsldtsil
      601 nqlcfimhry rknltaakkn elvqktksef nfssktyqef nhyltsmvgc lwtskpfgkg
      661 iyidpeilek tgvaeyknsl nvvhhpsfls yavsfllqes peertvnvss irgkkwswyl
      721 dylfsqglqg lklfirssvh hssipraegi ncnnqy
//
LOCUS       XP_047298203            1230 aa            linear   PRI 20-MAR-2023
DEFINITION  plexin-A3 isoform X1 [Homo sapiens].
ACCESSION   XP_047298203
VERSION     XP_047298203.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442247.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1230
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1230
                     /product="plexin-A3 isoform X1"
                     /calculated_mol_wt=133347
     Region          21..489
                     /region_name="Sema_plexin_A3"
                     /note="The Sema domain, a protein interacting module, of
                     Plexin A3; cd11273"
                     /db_xref="CDD:200534"
     Site            order(76,78..79,138,175..177,203..205,212..214,368,371,
                     373,376..380,390..391,393)
                     /site_type="other"
                     /note="putative Semaphorin binding site [polypeptide
                     binding]"
                     /db_xref="CDD:200534"
     Region          490..>527
                     /region_name="PSI"
                     /note="Plexin repeat; pfam01437"
                     /db_xref="CDD:396154"
     Region          546..636
                     /region_name="TIG_plexin"
                     /note="TIG domain; pfam17960"
                     /db_xref="CDD:436173"
     Region          637..684
                     /region_name="PSI"
                     /note="Plexin repeat; pfam01437"
                     /db_xref="CDD:396154"
     Region          690..784
                     /region_name="TIG_2"
                     /note="TIG domain found in plexin; pfam18020"
                     /db_xref="CDD:436217"
     Region          788..837
                     /region_name="PSI"
                     /note="Plexin repeat; pfam01437"
                     /db_xref="CDD:396154"
     Region          840..934
                     /region_name="IPT_plexin_repeat1"
                     /note="First repeat of the IPT domain of Plexins and Cell
                     Surface Receptors (PCSR) . Plexins are involved in the
                     regulation of cell proliferation and of cellular adhesion
                     and repulsion receptors. In general, there are three
                     copies of the IPT domain present...; cd01180"
                     /db_xref="CDD:238585"
     Region          935..1021
                     /region_name="IPT_plexin_repeat2"
                     /note="Second repeat of the IPT domain of Plexins and Cell
                     Surface Receptors (PCSR) . Plexins are involved in the
                     regulation of cell proliferation and of cellular adhesion
                     and repulsion receptors. In general, there are three
                     copies of the IPT domain present...; cd01179"
                     /db_xref="CDD:238584"
     Region          1023..>1099
                     /region_name="IPT_plexin_repeat3"
                     /note="Third repeat of the IPT domain of Plexins and Cell
                     Surface Receptors (PCSR) . Plexins are involved in the
                     regulation of cell proliferation and of cellular adhesion
                     and repulsion receptors. In general, there are three
                     copies of the IPT domain present...; cd01181"
                     /db_xref="CDD:238586"
     CDS             1..1230
                     /gene="PLXNA3"
                     /gene_synonym="6.3; HSSEXGENE; PLXN3; PLXN4; XAP-6"
                     /coded_by="XM_047442247.1:176..3868"
                     /db_xref="GeneID:55558"
                     /db_xref="HGNC:HGNC:9101"
                     /db_xref="MIM:300022"
ORIGIN      
        1 mpsvclllll flavggalgn rpfrafvvtd ttlthlavhr vtgevfvgav nrvfklapnl
       61 telrahvtgp vednarcypp psmrvcahrl apvdninkll lidyaarrlv acgsiwqgic
      121 qflrlddlfk lgephhrkeh ylsgaqepds magviveqgq gpsklfvgta vdgkseyfpt
      181 lssrklisde dsadmfslvy qdefvssqik ipsdtlslyp afdiyyiygf vsasfvyflt
      241 lqldtqqtll dtagekffts kivrmcagds efysyvefpi gcswrgveyr lvqsahlakp
      301 glllaqalgv padedvlfti fsqgqknras pprqtilclf tlsninahir rriqscyrge
      361 gtlalpwlln kelpcintpm qingnfcglv lnqplgglhv ieglpllads tdgmasvaay
      421 tyrqhsvvfi gtrsgslkkv rvdgfqdahl yetvpvvdgs pilrdllfsp dhrhiyllse
      481 kqvsqlpvet ceqyqscaac lgsgdphcgw cvlrhrccre gaclgasaph gfaeelskcv
      541 qvrvrpnnvs vtspgvqltv tlhnvpdlsa gvscafeaaa eneavllpsg ellcpspslq
      601 elraltrghg atrtvrlqll sketgvrfag adfvfyncsv lqscmscvgs pypchwckyr
      661 htctsrphec sfqegrvhsp egcpeilpsg dllipvgvmq pltlraknlp qpqsgqknye
      721 cvvrvqgrqq rvpavrfnss svqcqnasys yegdehgdte ldfsvvwdgd fpidkppsfr
      781 allykcwaqr pscglclkad prfncgwcis ehrcqlrthc papktnwmhl sqkgtrcshp
      841 ritqihplvg pkeggtrvti vgenlgllsr evglrvagvr cnsipaeyis aerivcemee
      901 slvpspppgp velcvgdcsa dfrtqseqvy sfvtptfdqv spsrgpasgg trltisgssl
      961 dagsrvtvtv rdsecqfvrr dakaivcisp lstlgpsqap itlaidrani sspgliytyt
     1021 qdptvtrlep twsiingsta itvsgthllt vqeprvraky rgiettntcq vindtamlck
     1081 apgiflgrpq praqgqepds rcsrqlppql hcadrrpavf ahclghttpv rltqpdwpaa
     1141 chgaggwpgv laghpahlgr agadptghdg aggggwapaa ghhsragglq aqdsgrgpyp
     1201 qasaaadgqp gvpcgpgvqg sfcraadghq
//
LOCUS       XP_011543908             602 aa            linear   PRI 20-MAR-2023
DEFINITION  ralBP1-associated Eps domain-containing protein 2 isoform X8 [Homo
            sapiens].
ACCESSION   XP_011543908
VERSION     XP_011543908.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011545606.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..602
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..602
                     /product="ralBP1-associated Eps domain-containing protein
                     2 isoform X8"
                     /calculated_mol_wt=64708
     Region          <75..121
                     /region_name="EFh"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     cl08302"
                     /db_xref="CDD:415501"
     Site            order(79,89,93)
                     /site_type="active"
                     /note="peptide binding pocket [active]"
                     /db_xref="CDD:238009"
     Site            order(97,99,101,108)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238009"
     Region          275..370
                     /region_name="EH"
                     /note="Eps15 homology domain; smart00027"
                     /db_xref="CDD:197477"
     CDS             1..602
                     /gene="REPS2"
                     /gene_synonym="POB1"
                     /coded_by="XM_011545606.3:205..2013"
                     /db_xref="GeneID:9185"
                     /db_xref="HGNC:HGNC:9963"
                     /db_xref="MIM:300317"
ORIGIN      
        1 meaaaaaaaa aaaaaaaggg cgsgppplll segeqqcyse lfarcagaag ggpgsgppea
       61 arvapgtata aagpvadlfr asqlpaetlh qitelcgakr vgyfgptqfy ialkliaaaq
      121 sglpvriesi kcelplprfm mskndgeirf gnpaelhgtk vqipylttek nsfkrmdded
      181 kqqetqsptm splasppssp phyqrvplsh gysklrssae qmhpapyear qplvqpegss
      241 sggpgtkplr hqaslirsfs verelqdnss ypdepwrite eqreyyvnqf rslqpdpssf
      301 isgsvaknff tksklsipel syiwelsdad cdgaltlpef caafhlivar kngyplpegl
      361 pptlqpeylq aafpkpkwdc qlfdsysesl panqqprdln rmektsvkdm adlpvpnqdv
      421 tsddkqalks tinealpkdv sedpatksgl lppppalppr pcpsqseqvs eaellpqlsr
      481 apsqaaessp akkdvlysqp pskpirrkfr penqatenqe pstaasgpas aatmkphptv
      541 qkqsskqkka iqtairknke anavlarlns elqqqlkaag trahsqeegr rpsnpgcrmg
      601 pp
//
LOCUS       XP_011529732             836 aa            linear   PRI 20-MAR-2023
DEFINITION  neuroligin-4, Y-linked isoform X1 [Homo sapiens].
ACCESSION   XP_011529732
VERSION     XP_011529732.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011531430.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000024.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..836
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
     Protein         1..836
                     /product="neuroligin-4, Y-linked isoform X1"
                     /calculated_mol_wt=94072
     CDS             1..836
                     /gene="NLGN4Y"
                     /gene_synonym="HNL4Y"
                     /coded_by="XM_011531430.3:141..2651"
                     /db_xref="GeneID:22829"
                     /db_xref="HGNC:HGNC:15529"
                     /db_xref="MIM:400028"
ORIGIN      
        1 mlrpqgllwl pllftsvcvm lnsnvllwit alaikftlid sqaqypvvnt nygkiqglrt
       61 plpseilgpv eqylgvpyas pptgerrfqp pespsswtgi rnatqfsavc pqhlderfll
      121 hdmlpiwftt sldtlmtyvq dqnedclyln iyvpmedgtn ikrnaddits ndhgedkdih
      181 eqnskkpvmv yihggsymeg tgnmidgsil asygnvivit inyrlgilgf lstgdqaakg
      241 nyglldqiqa lrwieenvga fggdpkrvti fgsgagascv slltlshyse glfqkaiiqs
      301 gtalsswavn yqpakytril adkvgcnmld ttdmveclkn knykeliqqt itpatyhiaf
      361 gpvidgdvip ddpqilmeqg eflnydimlg vnqgeglkfv dgivdnedgv tpndfdfsvs
      421 nfvdnlygyp egkdtlreti kfmytdwadk enpetrrktl valftdhqwv apavatadlh
      481 aqygsptyfy afyhhcqsem kpswadsahg devpyvfgip migptelfsc nfskndvmls
      541 avvmtywtnf aktgdpnqpv pqdtkfihtk pnrfeevaws kynpkdqlyl higlkprvrd
      601 hyratkvafw lelvphlhnl neifqyvstt tkvpppdmts fpygtrrspa kiwpttkrpa
      661 itpannpkhs kdphktgped ttvlietkrd ystelsvtia vgasllflni lafaalyykk
      721 dkrrhethrh pspqrnttnd ithiqneeim slqmkqlehd heceslqahd tlrltcppdy
      781 tltlrrspdd ipfmtpntit mipntlmgmq plhtfktfsg gqnstnlphg hsttrv
//
LOCUS       XP_054187044             343 aa            linear   PRI 20-MAR-2023
DEFINITION  HLA class I histocompatibility antigen, alpha chain F isoform X2
            [Homo sapiens].
ACCESSION   XP_054187044
VERSION     XP_054187044.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331069.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..343
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..343
                     /product="HLA class I histocompatibility antigen, alpha
                     chain F isoform X2"
                     /calculated_mol_wt=38537
     CDS             1..343
                     /gene="HLA-F"
                     /gene_synonym="CDA12; HLA-5.4; HLA-CDA12; HLAF"
                     /coded_by="XM_054331069.1:31..1062"
                     /db_xref="GeneID:3134"
                     /db_xref="HGNC:HGNC:4963"
                     /db_xref="MIM:143110"
ORIGIN      
        1 maprslllll sgalaltdtw agshslryfs tavsrpgrge pryiaveyvd dtqflrfdsd
       61 aaiprmepre pwveqegpqy wewttgyaka naqtdrvalr nllrrynqse agshtlqgmn
      121 gcdmgpdgrl lrgyhqhayd gkdyislned lrswtaadtv aqitqrfyea eeyaeefrty
      181 legeclellr rylengketl qradppkahv ahhpisdhea tlrcwalgfy paeitltwqr
      241 dgeeqtqdte lvetrpagdg tfqkwaavvv psgeeqrytc hvqheglpqp lilrweqspq
      301 ptipivgiva glvvlgavvt gavvaavmwr kkssgkltht gvq
//
LOCUS       XP_054190140             950 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Niban 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054190140
VERSION     XP_054190140.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334165.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..950
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..950
                     /product="protein Niban 1 isoform X2"
                     /calculated_mol_wt=106103
     CDS             1..950
                     /gene="NIBAN1"
                     /gene_synonym="C1orf24; FAM129A; GIG39; NIBAN"
                     /coded_by="XM_054334165.1:76..2928"
                     /db_xref="GeneID:116496"
                     /db_xref="HGNC:HGNC:16784"
                     /db_xref="MIM:619294"
ORIGIN      
        1 meislapfhr rsnqglqrie nlakviqpvc srrrfelkyf lppkslllte lcclpdghsh
       61 csfhlnflfs vhafshmrkt eaaiknfspy ysrqysvafc nhvrteveqq rdltsqflkt
      121 kpplapgtil yeaelsqfse dikkwkeryv vvkndyaves yenkeayqrg aapkcrilpa
      181 ggkvltsede ynllsdrhfp dplasseken tqpfvvlpke fpvylwqpff rhgyfcfhea
      241 adqkrfsall sdcvrhlnhd ymkqmtfeaq afleavqffr qekghygswe mitgdeiqil
      301 snlvmeellp tlqtdllpkm kgkkndrkrt wlglleeayt lvqhqvsegl salkeecral
      361 tkglegtirs dmdqivnskn yligkikamv aqpaekscle svqpflasil eelmgpvssg
      421 fsevrvlfek evnevsqnfq ttkdsvqlke hldrlmnlpl hsvkmepcyt kvnllherlq
      481 dlksrfrfph idlvvqrtqn ymqeqydyds stirkkifqe alvqitlptv qkalastckp
      541 elqkyeqfif adhtnmihve nvyeeilhqi lldetlkvik eaailkkhnl fednmalpse
      601 svssltdlkp ptgsnqaspa rrasailpgv lgsetlsnev fqeseeekqp evpsslakge
      661 slslpgpspp pdgteqviis rvddpvvnpv atedtaglpg tcsselefgg tledeepaqe
      721 epepitasgs lkalrkllta svevpvdsap vmeedtnges hvpqeneeee ekepsqaaai
      781 hpdnceesev sereaqppcp eahgeelggf pevgspaspp asgglteepl gpmegelpge
      841 actltahegr ggkcteegda sqqegctlgs dpiclsesqv seeqeemggq ssaaqatasv
      901 naeeikvari hecqwvveda pnpdvllshk ddvkegeggq esfpelpsee
//
LOCUS       XP_054192105             595 aa            linear   PRI 20-MAR-2023
DEFINITION  neuroblastoma breakpoint family member 15 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054192105
VERSION     XP_054192105.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336130.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..595
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..595
                     /product="neuroblastoma breakpoint family member 15
                     isoform X2"
                     /calculated_mol_wt=68747
     CDS             1..595
                     /gene="NBPF15"
                     /gene_synonym="AB14; AG3; NBPF16"
                     /coded_by="XM_054336130.1:53..1840"
                     /db_xref="GeneID:284565"
                     /db_xref="HGNC:HGNC:28791"
                     /db_xref="MIM:610414"
ORIGIN      
        1 mvvsagplss ekaemnilei neklrpqlae kkqqfrnlke kcfltqlagf lanrqkkyky
       61 eeckdlikfm lrnerqfkee klaeqlkqae elrqykvlvh aqereltqlr eklregrdas
      121 rslnehlqal ltpdepdksq gqdlqeqlae gcrltqhlvq klspendndd dedvqvevae
      181 kvqkssapre mqkaeekevp edsleecait csnshgpyds nqphkktkit feedkvdstl
      241 igssshvewe davhiipene sddeeeeekg pvsprnlqes eeeevpqesw degystlsip
      301 pemlasyqsy sstfhsleeq qvcmavdigr hrwdqvkked qeatgprlsr elldekepev
      361 lqdsldrcys tpsdylelpd lgqpyssavy sleeqylgla ldvdrikkdq eeeedqgppc
      421 prlsrellev vepevlqdsl drcystpssc leqpdscqpy gssfyaleek hvgfsldvge
      481 iekkgkgkkr rgrrskkkrr rgrkegeddn ppcprlygvl meveepevlq dsldrcystp
      541 smyfeqpdsf qhyrsvfysf eeehisfaly vdnrfftltv tslhlvfqmg vifpq
//
LOCUS       XP_054193606             768 aa            linear   PRI 20-MAR-2023
DEFINITION  ligand-dependent nuclear receptor-interacting factor 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_054193606
VERSION     XP_054193606.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337631.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..768
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..768
                     /product="ligand-dependent nuclear receptor-interacting
                     factor 1 isoform X1"
                     /calculated_mol_wt=84339
     CDS             1..768
                     /gene="LRIF1"
                     /gene_synonym="C1orf103; FSHD3; HBiX1; RIF1"
                     /coded_by="XM_054337631.1:235..2541"
                     /db_xref="GeneID:55791"
                     /db_xref="HGNC:HGNC:30299"
                     /db_xref="MIM:615354"
ORIGIN      
        1 msnnlrrvfl kpaeensgna srcvsgcmyq vvqtigsdgk nllqllpipk ssgnliplvq
       61 ssvmsdalkg ntgkpvqvtf qtqissssts asvqlpifqp asssnyfltr tvdtsekgrv
      121 tsvgtgnfss svskvqshgv kidgltmqtf avppstqkds sfivvntqsl pvtvkspvlp
      181 sghhlqipah aevksvpass lppsvqqkil atattstsgm veasqmptvi yvspvntvkn
      241 vvtknfqniy pkpvteiakp vilnttqipk nvatetqlkg gqhsqaapvk wifqdnlqpf
      301 tpslvpvkss nnvaskilkt fvdrknlgdn tinmpplsti dpsgtrsknm pikdnalvmf
      361 ngkvyllakk gtdvlpsqid qqnsvspdtp vrkdtlqtvs sspvteisre vvnivlaksk
      421 ssqmetksls ntqlasmtnl raeknkvekp spsttnphmn qssnylkqsk tlftnpifpv
      481 gfstghnapr kvtaviyark gsvlqsieki sssvdattvt sqqcvfrdqe pkihnemast
      541 sdkgaqgrnd kkdsqgrsnk alhlksdaef kkifgltkdl rvcltripdh ltsgegfdsf
      601 sslvksgtyk etefmvkege rkqnfdkkrk aktnkkmdhi kkrktenayn aiingeanvt
      661 gsqllssilp tsdvsqhnil tshsktrqek rtemeyythe kqekgtlnsn aayeqshffn
      721 knytedifpv tppeleetir dekirrlkqv lrekeaalee mrkkmhqk
//
LOCUS       XP_054221607             918 aa            linear   PRI 20-MAR-2023
DEFINITION  janus kinase and microtubule-interacting protein 3 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054221607
VERSION     XP_054221607.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365632.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..918
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..918
                     /product="janus kinase and microtubule-interacting protein
                     3 isoform X3"
                     /calculated_mol_wt=106068
     CDS             1..918
                     /gene="JAKMIP3"
                     /gene_synonym="bA140A10.5; C10orf14; C10orf39; Jamip3;
                     NECC2"
                     /coded_by="XM_054365632.1:254..3010"
                     /db_xref="GeneID:282973"
                     /db_xref="HGNC:HGNC:23523"
                     /db_xref="MIM:611198"
ORIGIN      
        1 mskrgmssra kgdkaealaa lqaanedlra kltdiqielq qekskvskve reknqelrqv
       61 reheqhktav lltelktklh eekmkelqav retllrqhea ellrvikikd nenqrlqall
      121 salrdggpek vktvllseak eeakkgfeve kvkmqqeise lkgakrqvee altlviqadk
      181 ikaaeirsvy hlhqeeitri kkecereirr leqqldekda rrfqlkiael saiirkledr
      241 nallseerne llkrvreaes qykplldknk rlsrknedls halrrmenkl kfvtqeniem
      301 rqragiirrp sslndldqsq derevdflkl qiveqqnlid elsktletag yvksvlerdk
      361 llrfrkqrkk maklpkpvvv etffgydeea slesdgssvs yqtdrtdqtp ctpdddleeg
      421 makeetelrf rqltmeyqal qrayallqeq vggtldaere vktreqlqae vqraqaried
      481 lekalaeqgq dmkwieekqa lyrrnqelve kikqmeteea rlrhevqdar dqnellefri
      541 leleererks paisfhhtpf vdgksplqvy ceaegvtdiv vaelmkkldi lgdnavsnlt
      601 neeqvvviqa rtvltlaekw lqqieeteaa lqrkmvdles ekelfskqkg yldeeldyrk
      661 qaldqankhi leleamlyda lqqeagakva ellseeerek lkvaveqwkr qvmselrerd
      721 aqilrermel lqlaqqrike leerieaqkr qikeleekls fsghspswhp dvphiesdpf
      781 ppvgpesrdk mgrrvsilkt qgdlvsarps rggrvrrgsv wgvelpstwd vpelelalpt
      841 srgllrdrpg lgcwtlgpfs rtadpipfpg mcsipcqagv rtasvqkhqp rvpssllvlt
      901 vaatgvwrki frnnrgla
//
LOCUS       XP_054221979            2316 aa            linear   PRI 20-MAR-2023
DEFINITION  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
            isoform X1 [Homo sapiens].
ACCESSION   XP_054221979
VERSION     XP_054221979.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366004.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2316
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2316
                     /product="1-phosphatidylinositol 4,5-bisphosphate
                     phosphodiesterase epsilon-1 isoform X1"
                     /calculated_mol_wt=259936
     CDS             1..2316
                     /gene="PLCE1"
                     /gene_synonym="NPHS3; PLCE; PPLC"
                     /coded_by="XM_054366004.1:693..7643"
                     /db_xref="GeneID:51196"
                     /db_xref="HGNC:HGNC:17175"
                     /db_xref="MIM:608414"
ORIGIN      
        1 mtseemtasv lipvtqrkvv saqsaadess ekvsdinisk ahtvrrsget shtisqlnkl
       61 keepsgsnlp kilsiareki vsdensnekc wekimpdsak nlnincnnil rnhqhglpqr
      121 qfyemynsva eedlcletgi psplerkvfp giqleldrps mgisplgnqs viietgrahp
      181 dsrravfhfh yevdrrmsdt fctlsenlil ddcgncvplp ggeekqkkny vaytcklmel
      241 akncdnkneq lqcdhcdtln dkyfcfegsc ekvdmvysgd sfcrkdftds qaaktflshf
      301 edfpdncddv eedafkskke rstllvrrfc kndrevkksv ytgtraivrt lpsghiglta
      361 wsyidqkrng pllpcgrvme ppstveirqd gsqrlseaqw ypiynavrre etentvgsll
      421 hfltklpase tahgrisvgp clkqcvrdtv ceyratlqrt sisqyitgsl leattslgar
      481 sgllstfggs tgrmmlkerq pgpsvansna lpsssagisk elidlqpliq fpeevasilm
      541 eqeqtiyrrv lpvdylcflt rdlgtpecqs slpclkasis asilttqnge hnaledlvmr
      601 fnevsswvtw liltagsmee krevfsylvh vakccwnmgn ynavmeflag lrsrkvlkmw
      661 qfmdqsdiet mrslkdamaq hessceyrkv vtralhipgc kvvpfcgvfl kelcevldga
      721 sglmklcpry nsqeetlefv adysgqdnfl qrvgqnglkn sekestvnsi fqvirscnrs
      781 letdeedsps egnssrkssl kdksrwqfii gdlldsdndi feqskeydsh gsedsqkafd
      841 hgtelipwyv lsiqadvhqf llqgatvihy dqdthlsarc flqlqpdnst ltwvkpttas
      901 passkaklgv lnntaepgkf pllgnaglss ltegvldlfa vkavymghpg idihtvcvqn
      961 klgsmflset gvtllyglqt tdnrllhfva pkhtakmlfs glleltravr kmrkfpdqrq
     1021 qwlrkqyvsl yqedgryegp tlahavelfg grrwsarnps pgtsaknaek pnmqrnntlg
     1081 isttkkkkki lmrgesgevt ddematrkak mhkecrsrsg sdpqdineqe esevnaianp
     1141 pnplpsrrah slttagspnl aagtsspirp vsspvlsssn kspssawsss swhgrikggm
     1201 kgfqsfmvsd snmsfvefve lfksfsvrsr kdlkdlfdvy avpcnrsgse saplytnlti
     1261 dentsdlqpd ldlltrnvsd lglfikskqq lsdnqrqisd aiaaasivtn gtgiestslg
     1321 ifgvgilqln dflvncqgeh ctydeilsii qkfepsismc hqglmsfegf arflmdkenf
     1381 askndesqen ikelqlplsy yyiesshnty ltghqlkges svelysqvll qgcrsveldc
     1441 wdgddgmpii yhghtlttki pfkevveaid rsafinsdlp iiisienhcs lpqqrkmaei
     1501 fktvfgeklv tkflfetdfs ddpmlpspdq lrkkvllknk klkahqtpvd ilkqkahqla
     1561 smqvqayngg nanprpanne eeedeedeyd ydyeslsdad vltaspapng qedniledrp
     1621 enkscndklq feyneeipkr ikkadnsacn kgkvydmelg eefyldqnkk esrqiapels
     1681 dlviycqavk fpglstlnas gssrgkerks rksifgnnpg rmspgetasf nktsgkssce
     1741 girqtweess splnpttsls aiirtpkcyh isslnenaak rlcrrysqkl tqhtacqllr
     1801 typaatrids snpnplmfwl hgiqlvalny qtddlplhln aamfeanggc gyvlkppvlw
     1861 dkncpmyqkf splerdldsm dpavysltiv sgqnvcpsns mgspcievdv lgmpldschf
     1921 rtkpihrntl npmwneqflf hvhfedlvfl rfavvennss avtaqriipl kalkrgyrhl
     1981 qlrnlhnevl eisslfinsr rmeenssgnt msassmfnte erkclqthrv tvhgvpgpep
     2041 ftvftinggt kakqllqqil tneqdikpvt tdyflmeeky fiskeknecr kqpfqraigp
     2101 eeeimqilss wfpeegymgr ivlktqqenl eeknivqddk evilsseees ffvqvhdvsp
     2161 eqprtvikap rvstaqdviq qtlckakysy silsnpnpsd yvlleevvkd ttnkktttpk
     2221 ssqrvlldqe cvfqaqskwk gagkfilklk eqvqasredk kkgisfasel kkltkstkqp
     2281 rgltspsqll tsesiqtkee kpvgglsssd tmdyrq
//
LOCUS       XP_054223764            1279 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 7 isoform X14
            [Homo sapiens].
ACCESSION   XP_054223764
VERSION     XP_054223764.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367789.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1279
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1279
                     /product="pleckstrin homology domain-containing family A
                     member 7 isoform X14"
                     /calculated_mol_wt=145050
     CDS             1..1279
                     /gene="PLEKHA7"
                     /coded_by="XM_054367789.1:1469..5308"
                     /db_xref="GeneID:144100"
                     /db_xref="HGNC:HGNC:27049"
                     /db_xref="MIM:612686"
ORIGIN      
        1 meprscppwd acpatlgvwq grprgacshn qqttafrhpv tgqfspense filqeepnph
       61 mskqdrnqrp ssmvsetsta gtastleakp gpkiiksssk vhsfgkrdqa irrnpnvpvv
      121 vrgwlhkqds sgmrlwkrrw fvladyclfy ykdsreeavl gsiplpsyvi spvapedris
      181 rkysfkavht gmraliynss tagsqaeqsg mrtyyfsadt qedmnawvra mnqaaqvlsr
      241 sslkrdmekv erqavpqanh teschecgrv gpghtrdcph rghddivnfe rqeqegeqyr
      301 sqrdplegkr drskarspys paeedalfmd lptgprgqqa qpqraekngm lpasygpgeq
      361 ngtggyqraf pprtnpekhs qrksnlaqve hwaraqkgds rslpldqtlp rqgpgqslsf
      421 penyqtlpks trhpsggssp pprnlpsdyk yaqdrashlk msseerrahr dgtvwqlyew
      481 qqrqqfrhgs ptapiclgsp eftdqgrsrs mlevprsisv ppspsdippp gpprvfpprr
      541 phtpaervtv kppdqrrsvd islgdsprra rghavknssh vdrrsmpsmg ymthtvsaps
      601 lhgksaddty lqlkkdleyl dlkiknnepl invlykvlkk sargcrprrs mtgrdllkdr
      661 slkpvkiaes dtdvklsifc eqdrvlqdle dkiralkenk dqlesvlevl hrqmeqyrdq
      721 pqhlekiayq qkllqedlvh iraelsrest emenawneyl klendveqlk qtlqeqhrra
      781 fffqeksqiq kdlwriedvt aglsankenf rilvesvknp erktvplfph ppvpslstse
      841 skpppqpspp tspvrtplev rlfpqlqtyv pyrphppqlr kvtsplqspt kakpkvqede
      901 apprpplpel yspedqppav pplpreatii rhtsvrglkr qsderkrdre lgqcvngdsr
      961 velrsyvsep elatlsgdma qpslglvgpe sryqtlpgrg lsgstsrlqq sstiapyvtl
     1021 rrglnaessk atfprpksal erlysgdhqr gkmsaeeqle rmkrhqkalv rerkrtlgqg
     1081 ertglpssry lsrplpgdlg swkreqdfdl qllervvqge kkdkeengwl kvqampvtel
     1141 dlepqdydld isrelskpek vsiperyvel dpeeppslee lqaryrkaek irnilarssm
     1201 cnlqptsgqd qnsvadldlq lqeqeriini syalaseasq rskqvaaqql allppkgpls
     1261 srtvppyppf tnglhytfv
//
LOCUS       XP_054229764            1000 aa            linear   PRI 20-MAR-2023
DEFINITION  formin-like protein 3 isoform X5 [Homo sapiens].
ACCESSION   XP_054229764
VERSION     XP_054229764.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373789.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1000
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1000
                     /product="formin-like protein 3 isoform X5"
                     /calculated_mol_wt=114298
     CDS             1..1000
                     /gene="FMNL3"
                     /gene_synonym="FHOD3; FRL2; WBP-3; WBP3"
                     /coded_by="XM_054373789.1:380..3382"
                     /db_xref="GeneID:91010"
                     /db_xref="HGNC:HGNC:23698"
                     /db_xref="MIM:616288"
ORIGIN      
        1 mfalkmkfcr aktlssmnlp pdkarllrqy dnekkwdlic dqerfqvknp phtyiqklqs
       61 fldpsvtrkk frrrvqestk vlreleislr tnhigwvref lndenkgldv lvdylsfaqc
      121 svmfdfegle sgddgafdkl rswsrsiedl qppsalsapf tnslarsarq svlrystlpg
      181 rralknsrlv sqkddvhvci lclraimnyq ygfnlvmshp havneialsl nnknprtkal
      241 vlellaavcl vrggheiila afdnfkevck elhrfeklme yfrnedsnid fmvacmqfin
      301 ivvhsvedmn frvhlqyeft klgleeflqk srhteseklq vqiqayldnv fdvgglleda
      361 etknvalekv eeleehvshl teklldlene nmmrvaelek qllqrekele siketyents
      421 hqvhtlrrli kekeeafqrr chlepnvrgl esvdsealar vgpaelsegm ppsdldllap
      481 apppeevlpl ppppapplpp pppplpdkcp papplpgaap svvltvglsa irikkpiktk
      541 frlpvfnwta lkpnqisgtv fselddekil edldldkfee lfktkaqgpa ldlicsknkt
      601 aqkaaskvtl leanraknla itlrkagrsa eeicraihtf dlqtlpvdfv eclmrflpte
      661 aevkllrqye rerqpleela aedrfmllfs kverltqrma gmaflgnfqd nlqmltpqln
      721 aiiaasasvk ssqklkqmle iilalgnymn sskrgavygf klqsldllld tkstdrkmtl
      781 lhfialtvke kypdlanfwh elhfvekaaa vslenvlldv kelgrgmeli rrecsihdns
      841 vlrnflstne gkldklqrda ktaeeaynav vryfgespkt tppsvffpvf vrfirsykea
      901 eqenearkkq eevmrekqla qeakkldakt psqrnkwqqq eliaelrrrq akehrpvyeg
      961 kdgtiediit vlksvpftar takrgsrffc daahhdesnc
//
LOCUS       XP_054233664            1273 aa            linear   PRI 20-MAR-2023
DEFINITION  paired amphipathic helix protein Sin3a isoform X1 [Homo sapiens].
ACCESSION   XP_054233664
VERSION     XP_054233664.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377689.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1273
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1273
                     /product="paired amphipathic helix protein Sin3a isoform
                     X1"
                     /calculated_mol_wt=145045
     CDS             1..1273
                     /gene="SIN3A"
                     /gene_synonym="WITKOS"
                     /coded_by="XM_054377689.1:400..4221"
                     /db_xref="GeneID:25942"
                     /db_xref="HGNC:HGNC:19353"
                     /db_xref="MIM:607776"
ORIGIN      
        1 mkrrlddqes pvyaaqqrri pgsteafphq hrvlapappv yeavsetmqs atgiqysvtp
       61 syqvsampqs sgshgpaiaa vhsshhhpta vqphggqvvq shahpappva pvqgqqqfqr
      121 lkvedalsyl dqvklqfgsq pqvyndfldi mkefksqsid tpgvisrvsq lfkghpdlim
      181 gfntflppgy kievqtndmv nvttpgqvhq ipthgiqpqp qpppqhpsqp saqsapapaq
      241 papqpppakv skpsqlqaht pasqqtpplp pyasprsppv qphtpvtisl gtapslqnnq
      301 pvefnhainy vnkiknrfqg qpdiykafle ilhtyqkeqr nakeaggnyt palteqevya
      361 qvarlfknqe dllsefgqfl pdanssvlls kttaekvdsv rndhggtvkk pqlnnkpqrp
      421 sqngcqirrh ptgttppvkk kpkllnlkds smadaskhgg gteslffdkv rkalrsaeay
      481 enflrclvif nqevisrael vqlvspflgk fpelfnwfkn flgykesvhl etypkerate
      541 giameidyas ckrlgssyra lpksyqqpkc tgrtplckev lndtwvsfps wsedstfvss
      601 kktqyeehiy rcederfeld vvletnlati rvleaiqkkl srlsaeeqak frldntlggt
      661 sevihrkalq riyadkaadi idglrknpsi avpivlkrlk mkeeewreaq rgfnkvwreq
      721 nekyylksld hqginfkqnd tkvlrsksll neiesiyder qeqateenag vpvgphlsla
      781 yedkqileda aaliihhvkr qtgiqkedky kikqimhhfi pdllfaqrgd lsdveeeeee
      841 emdvdeatga vkkhngvggs ppkskllfsn taaqklrgmd evynlfyvnn nwyifmrlhq
      901 ilclrllric sqaerqieee nrerewerev lgikrdksds paiqlrlkep mdvdvedyyp
      961 afldmvrsll dgnidssqye dslremftih ayiaftmdkl iqsivrqlqh ivsdeicvqv
     1021 tdlylaennn gatggqlntq nsrsllesty qrkaeqlmsd encfklmfiq sqgqvqltie
     1081 lldteeensd dpveaerwsd yverymnsdt tspelrehla qkpvflprnl rrirkcqrgr
     1141 eqqekegkeg nskktmenvd sldklecrfk lnsykmvyvi ksedymyrrt allrahqshe
     1201 rvskrlhqrf qawvdkwtke hvpremaaet skwlmgegle glvpctttcd tetlhfvsin
     1261 kyrvkygtvf kap
//
LOCUS       XP_054234420             289 aa            linear   PRI 20-MAR-2023
DEFINITION  dual specificity mitogen-activated protein kinase kinase 5 isoform
            X1 [Homo sapiens].
ACCESSION   XP_054234420
VERSION     XP_054234420.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378445.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..289
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..289
                     /product="dual specificity mitogen-activated protein
                     kinase kinase 5 isoform X1"
                     /calculated_mol_wt=32162
     CDS             1..289
                     /gene="MAP2K5"
                     /gene_synonym="HsT17454; MAPKK5; MEK5; PRKMK5"
                     /coded_by="XM_054378445.1:634..1503"
                     /db_xref="GeneID:5607"
                     /db_xref="HGNC:HGNC:6845"
                     /db_xref="MIM:602520"
ORIGIN      
        1 mlwlalgpfp amenqvlvir ikipnsgavd wtvhsgpqll frdvldvigq vlpeatttaf
       61 eyededgdri tvrsdeemka mlsyyystvm eqqvngqlie plqifprack ppgernihgl
      121 kvntragpsq hsspavsdsl psnslkkssa elkkilangq mneqdiryrd tlghgnggtv
      181 ykayhvpsgk ilavkvilld itlelqkqim seleilykcd ssyiigfyga ffvenrisic
      241 tefmdggsld vyrkmpehvl griavavvkg ltylwslkil hranedlct
//
LOCUS       XP_054234702             765 aa            linear   PRI 20-MAR-2023
DEFINITION  transducin-like enhancer protein 3 isoform X10 [Homo sapiens].
ACCESSION   XP_054234702
VERSION     XP_054234702.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378727.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..765
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..765
                     /product="transducin-like enhancer protein 3 isoform X10"
                     /calculated_mol_wt=82691
     CDS             1..765
                     /gene="TLE3"
                     /gene_synonym="ESG; ESG3; GRG3; HsT18976"
                     /coded_by="XM_054378727.1:1119..3416"
                     /db_xref="GeneID:7090"
                     /db_xref="HGNC:HGNC:11839"
                     /db_xref="MIM:600190"
ORIGIN      
        1 mypqgrhpap hqpgqpgfkf tvaescdrik defqflqaqy hslkveydkl anektemqrh
       61 yvmyyemsyg lniemhkqte iakrlntila qimpflsqeh qqqvaqaver akqvtmteln
      121 aiigvrglpn lpltqqqlqa qhlshathgp pvqlpphpsg lqppgippvt gsssgllalg
      181 algsqahltv kdeknhheld hreressann svspseslra sekhrgsady smeakkrkae
      241 ekdslsryds dgdksddlvv dvsnedpatp rvspahsppe ngldkarslk kdaptspasv
      301 asssstpssk tkdlghndks stpglksntp tprndaptpg tsttpglrsm pasalrtpis
      361 itssyaapfa mmshhemngs ltspgayagl hnippqmsaa aaaaaaaygr spmvgfdphp
      421 pmratglpss lasipggkpa ysfhvsadgq mqpvpfphda lagpgiprha rqintlshge
      481 vvcavtisnp trhvytggkg cvkiwdisqp gskspisqld clnrdnyirs ckllpdgrtl
      541 ivggeastlt iwdlasptpr ikaeltssap acyalaispd akvcfsccsd gniavwdlhn
      601 qtlvrqfqgh tdgascidis hdgtklwtgg ldntvrswdl regrqlqqhd ftsqifslgy
      661 cptgewlavg messnvevlh htkpdkyqlh lhescvlslk faycgkwfvs tgkdnllnaw
      721 rtpygasifq skesssvlsc disaddkyiv tgsgdkkatv yeviy
//
LOCUS       XP_054171410            3095 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleosome-remodeling factor subunit BPTF isoform X7 [Homo
            sapiens].
ACCESSION   XP_054171410
VERSION     XP_054171410.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315435.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3095
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3095
                     /product="nucleosome-remodeling factor subunit BPTF
                     isoform X7"
                     /calculated_mol_wt=343430
     CDS             1..3095
                     /gene="BPTF"
                     /gene_synonym="FAC1; FALZ; NEDDFL; NURF301"
                     /coded_by="XM_054315435.1:223..9510"
                     /db_xref="GeneID:2186"
                     /db_xref="HGNC:HGNC:3581"
                     /db_xref="MIM:601819"
ORIGIN      
        1 mrgrrgrppk qpaapaaerc apappppppp ptsgpigglr srhrgssrgr waaaqaevap
       61 ktrlssprgg sssrrkpppp ppappstsap grggrggggg rtgggggggh larttaarra
      121 vnkvvyddhe seeeeeeedm vseeeeeedg daeetqdsed deedemeedd ddsdypeeme
      181 dddddasyct essfrshsty sstpgrrkpr vhrprspile ekdipplefp kssedlmvpn
      241 ehimnviaiy evlrnfgtvl rlspfrfedf caalvsqeqc tlmaemhvvl lkavlreedt
      301 snttfgpadl kdsvnstlyf idgmtwpevl rvycesdkey hhvlpyqeae dypygpvenk
      361 ikvlqflvdq flttniaree lmsegviqyd dhcrvchklg dllccetcsa vyhlecvkpp
      421 leevpedewq cevcvahkvp gvtdcvaeiq knkpyirhep igydrsrrky wflnrrliie
      481 edtenenekk iwyystkvql aelidcldkd yweaelckil eemreeihrh mditedltnk
      541 argsnksfla aaneeilesi rakkgdidnv kspeetekdk netendskda eknreefedq
      601 slekdsddkt pdddpeqgks eeptevgdkg nsvsanlgdn ttnatseets psegrspvgc
      661 lsetpdssnm aekkvaselp qdvpvgdfks eksngelses pgagkgasgs triitrlrnp
      721 dsklsqlksq qvaaaahean klfkegkevl vvnsqgeisr lstkkevimk gninnyfklg
      781 qegkyrvyhn qystnsfaln khqhredhdk rrhlahkfcl tpagefkwng svhgskvlti
      841 stlrltitql ennipssflh pnwashranw ikavqmcskp refalalail ecavkpvvml
      901 piwreslght rlhrmtsier eekekvkkke kkqeeeetmq qatwvkytfp vkhqvwkqkg
      961 eeyrvtgygg wswiskthvy rfvpklpgnt nvnyrksleg tknnmdenmd esdkrkcsrs
     1021 pkkikiepds ekdevkgsda akgadqnemd iskitekkdq dvkelldsds dkpckeepme
     1081 vdddmktesh vncqessqvd vvnvsegfhl rtsykkktks skldgllerr ikqftleekq
     1141 rlekiklegg ikgigktstn ssknlsespv itkakegcqs dsmrqeqspn anndqpedli
     1201 qgcsesdssv lrmsdpshtt nklypkdrvl ddvsirspet kcpkqnsien dieekvsdla
     1261 srgqepsksk tkgndffidd sklasaddig tlicknkkpl iqeesdtivs ssksalhssv
     1321 pkstndrdat plsramdfeg klgcdsesns tlenssdtvs iqdsseedmi vqnsnesise
     1381 qfrtreqdve vleplkcelv sgestgnced rlpvkgtean gkkpsqqkkl eerpvnkcsd
     1441 qiklknttdk knnenresek kgqrtstfqi ngkdnkpkiy lkgeclkeis esrvvsgnve
     1501 pkvnninkii pendiksltv kesairpfin gdvimedfne rnssetkshl lsssdaegny
     1561 rdsletlpst kesdstqttt psascpesns vnqvedmeie tsevkkvtss pitseeesnl
     1621 sndfidengl pinknenvng eskrktvite vttmtstvat esktvikvek gdkqtvvsst
     1681 encakstvtt ttttvtklst pstggsvdii svkeqsktvv tttvtdsltt tggtlvtsmt
     1741 vskeystrdk vklmkfsrpk ktrsgtalps yrkfvtkssk ksifvlpndd lkklarkggi
     1801 revpyfnyna kpaldiwpyp sprptfgitw ryrlqtvksl agvslmlrll waslrwddma
     1861 akappgggtt rtetseteit tteiikrrdv gpygirseyc irkiicpigv petpketptp
     1921 qrkglrssal rpkrpetpkq tgpviietwv aeeelelwei rafaerveke kaqaveqqak
     1981 krleqqkptv iatsttspts sttstispaq kvmvapisgs vttgtkmvlt tkvgspatvt
     2041 fqqnknfhqt fatwvkqgqs nsatstaats attiastgqt fqitgnpvtm agkvitklpl
     2101 panskivavn vpatqggvvq vqqkvlgiip sstgtsqqtf tsfqprtatv tirpntsgsg
     2161 gttsnsqvit gpqirpgmtv irtplqqstl gkaiirtpvm vqpgapqqvm tqiirgqpvs
     2221 tavsapntvs stpgqkslts atstsniqss asqpprpqqg qvkltmaqlt qltqghggnq
     2281 gltvviqgqg qttgqlqlip qgvtvlpgpg qqlmqaampn gtvqrflftp lattattast
     2341 ttttvsttaa gtgeqrqskl spqmqvhqdk tlppaqsssv gpaeaqpqta qpsaqpqpqt
     2401 qpqspaqpev qtqpevqtqt tvsshvpsea qpthaqsskp qvaaqsqpqs nvqgqspvrv
     2461 qspsqtrirp stpsqlspgq qsqvqtttsq pipiqphtsl qipsqgqpqs qpqvqsstqt
     2521 lssgqtlnqv tvsspsrpql qiqqpqpqvi avpqlqqqvq vlsqiqsqvv aqiqaqqsgv
     2581 pqqiklqlpi qiqqssavqt hqiqnvvtvq aasvqeqlqr vqqlrdqqqk kkqqqieikr
     2641 ehtlqasnqs eiiqkqvvmk hnaviehlkq kksmtpaere enqrmivcnq vmkyildkid
     2701 keekqaakkr kreesveqkr skqnatklsa llfkhkeqlr aeilkkrall dkdlqievqe
     2761 elkrdlkikk ekdlmqlaqa tavaapcppv tpappappap ppspppppav qhtgllstpt
     2821 lpaasqkrkr eeekdsssks kkkkmistts ketkkdtkly cicktpydes kfyigcdlct
     2881 nwyhgecvgi tekeakkmdv yicndckraq egsseelyci crtpydesqf yigcdrcqnw
     2941 yhgrcvgilq seaelideyv cpqcqsteda mtvltpltek dyeglkrvlr slqahkmawp
     3001 flepvdpnda pdyygvikep mdlatmeerv qrryyeklte fvadmtkifd ncryynpsds
     3061 pfyqcaevle sffvqklkgf kasrshnnkl qstas
//
LOCUS       XP_054171499             344 aa            linear   PRI 20-MAR-2023
DEFINITION  arylsulfatase G isoform X10 [Homo sapiens].
ACCESSION   XP_054171499
VERSION     XP_054171499.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315524.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..344
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..344
                     /product="arylsulfatase G isoform X10"
                     /calculated_mol_wt=37441
     CDS             1..344
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /coded_by="XM_054315524.1:809..1843"
                     /db_xref="GeneID:22901"
                     /db_xref="HGNC:HGNC:24102"
                     /db_xref="MIM:610008"
ORIGIN      
        1 mgwlflkvll agvsfsgfly plvdfcisgk trgqkpnfvi iladdmgwgd lganwaetkd
       61 tanldkmase gmrfvdfhaa astcspsras lltgrlglrn gvtrnfavts vgglplnett
      121 laevlqqagy vtgiigkwhl ghhgsyhpnf rgfdyyfgip yshdmgctdt pgynhppcpa
      181 cpqgdgpsrn lqrdcytdva lplyenlniv eqpvnlssla qkyaekatqf iqrastsgrp
      241 fllyvalahm hvplpvtqlp aaprgrslyg aglwemdslv gqikdkvdht vkentflwft
      301 gdngpwaqkc elagsvgpft gfwqtrqgnl vgtslagimq kyla
//
LOCUS       XP_054172423              99 aa            linear   PRI 20-MAR-2023
DEFINITION  HIG1 domain family member 1B isoform X1 [Homo sapiens].
ACCESSION   XP_054172423
VERSION     XP_054172423.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316448.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..99
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..99
                     /product="HIG1 domain family member 1B isoform X1"
                     /calculated_mol_wt=10954
     CDS             1..99
                     /gene="HIGD1B"
                     /gene_synonym="CLST11240; CLST11240-15"
                     /coded_by="XM_054316448.1:71..370"
                     /db_xref="GeneID:51751"
                     /db_xref="HGNC:HGNC:24318"
ORIGIN      
        1 msanrrwwvp pddedcvsek llrktrespl vpiglggclv vaayriyrlr srgstkmsih
       61 lihtrvaaqa cavgaimlga vytmyndyvk rmaqdagek
//
LOCUS       XP_054172780            1939 aa            linear   PRI 20-MAR-2023
DEFINITION  trinucleotide repeat-containing gene 6C protein isoform X3 [Homo
            sapiens].
ACCESSION   XP_054172780
VERSION     XP_054172780.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316805.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1939
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1939
                     /product="trinucleotide repeat-containing gene 6C protein
                     isoform X3"
                     /calculated_mol_wt=202041
     CDS             1..1939
                     /gene="TNRC6C"
                     /coded_by="XM_054316805.1:38..5857"
                     /db_xref="GeneID:57690"
                     /db_xref="HGNC:HGNC:29318"
                     /db_xref="MIM:610741"
ORIGIN      
        1 meekkkkkqe ekkkkegaqk kaadqktkvp eptktcssqp qpagtststs tstisssnng
       61 krasasgqqp aasrylprev pprfrqqeqk qllkrgqplp tgtltsvspt qgagpagvsp
      121 pplpgagtqh hpsklqpdls hsgladhyen shwgqqptyr seancswdkv iidrtdkeaw
      181 psitgtetes asecttdtds asncgsenss matgsaqgnf tghtkktngn ngtngalvqs
      241 psnqsalgag gansngsaar vwgvatgsss glahcsvsgg dgkmdtmigd grsqncwgas
      301 nsnaginlnl npnanpaawp vlghegtvat gnpssicspv saigqnmgnq ngnptgtlga
      361 wgnllpqest epqtstsqnv sfsaqpqnln tdgpnntnpm nsspnpinam qtnglpnwgm
      421 avgmgaiipp hlqglpgang ssvsqvsggs aegisnsvwg lspgnpatgn snsgfsqgng
      481 dtvnsalsak qngsssavqk egsggnawds gppagpgila wgrgsgnngv gnihsgawgh
      541 psrstsngvn gewgkppnqh snsdingkgs tgwespsvts qnptvqpgge hmnswakaas
      601 sgttasegss dgsgnhnegs tgregtgegr rrdkgiidqg hiqlprndld prvlsntgwg
      661 qtpvkqntaw efeesprser kndngteawg caatqasnsg gkndgsimns tntssvsgwv
      721 nappaavpan tgwgdsnnka psgpgvwgds isstavstaa aaksghawsg aanqedkspt
      781 wgeppkpksq hwgdgqrsnp awsagggdwa dsssvlghlg dgkkngsgwd adsnrsgsgw
      841 ndttrsgnsg wgnstntkan pgtnwgetlk pgpqqnwask pqdnnvsnwg gaasvkqtgt
      901 gwiggpvpvk qkdsseatgw eepsppsirr kmeiddgtsa wgdpsnynnk tvnmwdrnnp
      961 viqsstttnt ttttttttsn tthrvetppp hqagtqlnrs pllgpgrkvs sgwgempnvh
     1021 sktenswgep sspstlvdng taawgkppss gsgwgdhpae ppvafgraga pvaasalckp
     1081 asksmqegwg sggdemnlst sqwedeegdv wnnaasqest sscsswgnap kkglqkgmkt
     1141 sgkqdeawim srlikqltdm gfprepaeea lksnnmnldq amsallekkv dvdkrglgvt
     1201 dhngmaakpl gcrppiskes svdrptfldk dgglveeptp spflpspslk lplshsalps
     1261 qalggiasgl gmqnlnssrq ipsgnlgmfg nsgaaqartm qqppqppvqp lnssqpslra
     1321 qvpqflspqv qaqllqfaak niglnpallt spinpqhmtm lnqlyqlqla yqrlqiqqqm
     1381 lqaqrnvsgs mrqqeqqvar titnlqqqiq qhqrqlaqal lvkqpppppp pphlslhpsa
     1441 gksamdsfps hpqtpglpdl qtkeqqsspn tfapyplagl npnmnvnsmd mtgglsvkdp
     1501 sqsqsrlpqw thpnsmdnlp saaspleqnp skhgaipggl sigppgkssi ddsygrydli
     1561 qnsespaspp vavphswsra ksdsdkisng ssinwppefh pgvpwkglqn idpendpdvt
     1621 pgsvptgpti nttiqdvnry llksggsspp ssqnatlpss sawplsasgy sssfssiasa
     1681 psvagklsdi kstwssgpts htqaslshel wkvprnstap trpppgltnp kpsstwgasp
     1741 lgwtssyssg sawstdtsgr tsswlvlrnl tpqidgstlr tlclqhgpli tfhlnltqgn
     1801 avvrysskee aakaqkslhm cvlgnttila efageeevnr flaqgqalpp tsswqsssas
     1861 sqprlsaags shglvrsdag hwnapclggk gssellwggv pqyssslwgp psaddsrvig
     1921 sptplttllp gdllsgesl
//
LOCUS       XP_054173207             245 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription elongation factor, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_054173207
VERSION     XP_054173207.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317232.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..245
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..245
                     /product="transcription elongation factor, mitochondrial
                     isoform X1"
                     /calculated_mol_wt=28370
     CDS             1..245
                     /gene="TEFM"
                     /gene_synonym="C17orf42"
                     /coded_by="XM_054317232.1:4640..5377"
                     /db_xref="GeneID:79736"
                     /db_xref="HGNC:HGNC:26223"
                     /db_xref="MIM:616422"
ORIGIN      
        1 mnvplfkyks tvqvcnsilc pktgrekrks penrflrkll kpdiererlk avnsiisivf
       61 gtrriawahl drkltvldwq qsdrwslmrg iysssvylee issiiskmpk adfyvlektg
      121 lsiqnsslfp illhfhimea mlyallnktf aqdgqhqvls mnrnavgkhf elmigdsrts
      181 gkelvkqflf dsilkadprv ffpsdkivhy rqmflstelq rveelydsll qaiafyelav
      241 fdsqp
//
LOCUS       XP_054173227             284 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-CoA-binding domain-containing protein 4 isoform X15 [Homo
            sapiens].
ACCESSION   XP_054173227
VERSION     XP_054173227.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317252.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..284
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..284
                     /product="acyl-CoA-binding domain-containing protein 4
                     isoform X15"
                     /calculated_mol_wt=31909
     CDS             1..284
                     /gene="ACBD4"
                     /gene_synonym="HMFT0700"
                     /coded_by="XM_054317252.1:696..1550"
                     /db_xref="GeneID:79777"
                     /db_xref="HGNC:HGNC:23337"
                     /db_xref="MIM:619968"
ORIGIN      
        1 mgtekespep dcqkqfqaav sviqnlpkng syrpsyeeml rfysyykqat mgpclvprpg
       61 fwdpigrykw dawnslgkms reeamsayit emklvaqkvi dtvplgevae dmfgyfeply
      121 qvipdmprpp etflrrvtgw keqvvngdvg avseppclpk epappspasl wavtlptppq
      181 spihpgtwtp rfsvipwssw slswfgqssg qhleesvipg tapcppqrkr gcgaarrgpr
      241 swtcgcwgqf ehyrracrrc rrgcrawrac pgplssltls vrle
//
LOCUS       XP_054173975            1370 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 94 isoform X20 [Homo sapiens].
ACCESSION   XP_054173975
VERSION     XP_054173975.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318000.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1370
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1370
                     /product="transmembrane protein 94 isoform X20"
                     /calculated_mol_wt=152637
     CDS             1..1370
                     /gene="TMEM94"
                     /gene_synonym="IDDCDF; KIAA0195"
                     /coded_by="XM_054318000.1:154..4266"
                     /db_xref="GeneID:9772"
                     /db_xref="HGNC:HGNC:28983"
                     /db_xref="MIM:618163"
ORIGIN      
        1 mlfkqaelwm phqgkgnkge ppsalglstr kalsvlkeql eavleghlre rkkcltwkev
       61 wrssflhhsn rcscfhwpga slmllavlll lgccggqpag srgvglvnas alflllllnl
      121 vligrqdrlk rreverrlrg iidqiqdalr dgreiqwpsa mypdlhmpfa pswslhwayr
      181 dghlvnlpvs llvegdiial rpgqesfasl rgikddehiv lepgdlfppf spppsprgev
      241 ergpqspqqh rlfrvletpv idnirwcldm alsrpvtald nerftvqsvm lhyavpvvla
      301 gflitnalrf ifsapgvtsw qytllqlqvn gvlpilpllf pvlwvlatac gearvlaqms
      361 kaspssllak fsedtlssyt eavssqemlr ciwghflrvl ggtsptlshs ssllhslgsv
      421 tvlccvdkqg ilswpnpspe tvlffsgkve pphsshedlt dglstrsfch peveeepher
      481 dallagslnn tlhlsneqer gdwpgeapkp pepyshhkah grskhpsgsn vsfsrdtegg
      541 eeepsktqpg mesdpyeaed fvcdyhleml slsqdqqnps ciqfddsnwq lhltslkplg
      601 lnvllnlcda svterlcrfs dhlcnialqe shsavlpvhv pwglcelarl igftpgakel
      661 fkqenhlaly rlpsaetmke tslgrlscvt krrpplshmi slfikdttts teqmlshgta
      721 dvvleactdf wdgadiypls gsdrkkvldf yqraclsgyc safaykpmnc alssqlngkc
      781 ielvqvpgqs siftmcelps tipikqnarr sswssdegig evlekedcmq alsgqifmgm
      841 vssqyqarld ivrlidglvn acirfvyfsl edelkskvfa ekmgletgwn chisltpngd
      901 mpgseippss pshagslhdd lnqvsrddae glllmeeegh sdlisfqptd sdipsfleds
      961 nraklprgih qvrphlqnid nvpllvplft dctpetmcem ikimqeygev tcclgssanl
     1021 rnsclflqsd isialdplyp srcswetfgy atsismaqas dglsplqlsg qlnslpcslt
     1081 frqeetisii rlieqarhat ygirkcflfl lqcqltlvvi qflsclvqlp pllsttdilw
     1141 lscfcyplls isllgkpphs simsmatgkn lqsipkktqh yfllcfllkf sltissclic
     1201 fgftlqsfcd ssrdrnltnc ssvmlpsndd rapawfedfa ngllsaqklt aalivlhtvf
     1261 isithvhrtk plwrkspltn lwwavtvpvv llgqvvqtav dlqlwthrds hvhfgledvp
     1321 lltwllgcls lvlvvvtnei vklheirvrv ryqkrqklqf etklgmnspf
//
LOCUS       XP_054175669             371 aa            linear   PRI 20-MAR-2023
DEFINITION  splicing factor U2AF 65 kDa subunit isoform X1 [Homo sapiens].
ACCESSION   XP_054175669
VERSION     XP_054175669.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319694.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..371
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..371
                     /product="splicing factor U2AF 65 kDa subunit isoform X1"
                     /calculated_mol_wt=40491
     CDS             1..371
                     /gene="U2AF2"
                     /gene_synonym="U2AF65"
                     /coded_by="XM_054319694.1:503..1618"
                     /db_xref="GeneID:11338"
                     /db_xref="HGNC:HGNC:23156"
                     /db_xref="MIM:191318"
ORIGIN      
        1 mqykamqaag qipatallpt mtpdglavtp tpvpvvgsqm trqarrlyvg nipfgiteea
       61 mmdffnaqmr lggltqapgn pvlavqinqd knfaflefrs vdettqamaf dgiifqgqsl
      121 kirrphdyqp lpgmsenpsv yvpgvvstvv pdsahklfig glpnylnddq vkelltsfgp
      181 lkafnlvkds atglskgyaf ceyvdinvtd qaiaglngmq lgdkkllvqr asvgaknatl
      241 vsppstinqt pvtlqvpglm ssqvqmgghp tevlclmnmv lpeellddee yeeivedvrd
      301 ecskyglvks ieiprpvdgv evpgcgkifv eftsvfdcqk amqgltgrkf anrvvvtkyc
      361 dpdsyhrrdf w
//
LOCUS       XP_054175896             937 aa            linear   PRI 20-MAR-2023
DEFINITION  NACHT, LRR and PYD domains-containing protein 4 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054175896
VERSION     XP_054175896.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319921.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..937
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..937
                     /product="NACHT, LRR and PYD domains-containing protein 4
                     isoform X2"
                     /calculated_mol_wt=107329
     CDS             1..937
                     /gene="NLRP4"
                     /gene_synonym="CLR19.5; CT58; NALP4; PAN2; PYPAF4; RNH2"
                     /coded_by="XM_054319921.1:66..2879"
                     /db_xref="GeneID:147945"
                     /db_xref="HGNC:HGNC:22943"
                     /db_xref="MIM:609645"
ORIGIN      
        1 maasffsdfg lmwyleelkk eefrkfkehl kqmtlqlelk qipwtevkka sreelanlli
       61 khyeeqqawn itlrifqkmd rkdlcmkvmr ertgytktyq ahakqkfsrl wssksvteih
      121 lyfeeevkqe ecdhldrlfa pketgkqprt viiqgpqgig kttllmklmm awsdnkifrd
      181 rflytfyfcc relrelppts ladlisrewp dpaapiteiv sqperllfvi dsfeelqggl
      241 nepdsdlcgd lmekrpvqvl lssllrkkml peaslliaik pvcpkelrdq vtiseiyqpr
      301 gfnesdrlvy fccffkdpkr ameafnlvre seqlfsicqi pllcwilcts lkqemqkgkd
      361 laltcqstts vyssfvfnlf tpegaegptp qtqhqlkalc slaaegmwtd tfefceddlr
      421 rngvvdadip allgtkillk ygeressyvf lhvciqefca alfyllkshl dhphpavrcv
      481 qellvanfek arrahwiflg cfltgllnkk eqekldaffg fqlsqeikqq ihqclkslge
      541 rgnpqgqvds laifyclfem qdpafvkqav nllqeanfhi idnvdlvvsa yclkycsslr
      601 klcfsvqnvf kkedehssts dyslicwhhi csvlttsghl relqvqdstl sestfvtwcn
      661 qlrhpscrlq klginnvsfs gqsvllfevl fyqpdlkyls ftltklsrdd irslcdalny
      721 pagnvkelal vnchlspidc evlaglltnn kkltylnvsc nqldtgvpll cealcspdtv
      781 lvylmlafch lseqcceyis emllrnksvr yldlsanvlk deglktlcea lkhpdcclds
      841 lwleecglts tcckdlasvl tcsktlqlln ltlntldhtg vvvlcealrh pecalqvlgl
      901 rktdfdeetq alltaeeern pnltitddcd titrvei
//
LOCUS       XP_054177024             326 aa            linear   PRI 20-MAR-2023
DEFINITION  pregnancy-specific beta-1-glycoprotein 8 isoform X1 [Homo sapiens].
ACCESSION   XP_054177024
VERSION     XP_054177024.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321049.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..326
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..326
                     /product="pregnancy-specific beta-1-glycoprotein 8 isoform
                     X1"
                     /calculated_mol_wt=36181
     CDS             1..326
                     /gene="PSG8"
                     /gene_synonym="PSG1"
                     /coded_by="XM_054321049.1:98..1078"
                     /db_xref="GeneID:440533"
                     /db_xref="HGNC:HGNC:9525"
                     /db_xref="MIM:176397"
ORIGIN      
        1 mgllsappct qritwkglll tasllnfwnp pttaqvtiea qptkvsegkd vlllvhnlpq
       61 nltgyiwykg qirdlyhyit syvvdgqiii ygpaysgret iysnaslliq nvtqedagsy
      121 tlhiimggde nrgvtghftf tlyletpkps isssklnpre ameavsltcd petpdasylw
      181 wmngqslpms hrlqlsetnr tlfllgvtky tagpyeceir npvsasrsdp ftlnllhgpd
      241 lpriypsfty yrsgevlyls csadsnppaq yswtingkfq lsgqklfipq ittkhsglya
      301 csvrnsatgk essksmtvkv sdwtlp
//
LOCUS       XP_054177208            1107 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA polymerase delta catalytic subunit isoform X1 [Homo sapiens].
ACCESSION   XP_054177208
VERSION     XP_054177208.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321233.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1107
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1107
                     /product="DNA polymerase delta catalytic subunit isoform
                     X1"
                     /calculated_mol_wt=123501
     CDS             1..1107
                     /gene="POLD1"
                     /gene_synonym="CDC2; CRCS10; MDPL; POLD"
                     /coded_by="XM_054321233.1:993..4316"
                     /db_xref="GeneID:5424"
                     /db_xref="HGNC:HGNC:9175"
                     /db_xref="MIM:174761"
ORIGIN      
        1 mdgkrrpgpg pgvppkrarg glwddddapr psqfeedlal meemeaehrl qeqeeeelqs
       61 vlegvadgqv ppsaidprwl rptppaldpq teplifqqle idhyvgpaqp vpggpppsrg
      121 svpvlrafgv tdegfsvcch ihgfapyfyt pappgfgpeh mgdlqrelnl aisrdsrggr
      181 eltgpavlav elcsresmfg yhghgpspfl ritvalprlv aparrlleqg irvaglgtps
      241 fapyeanvdf eirfmvdtdi vgcnwlelpa gkyalrlkek atqcqleadv lwsdvvshpp
      301 egpwqriapl rvlsfdieca grkgifpepe rdpviqicsl glrwgepepf lrlaltlrpc
      361 apilgakvqs yekeedllqa wstfirimdp dvitgyniqn fdlpylisra qtlkvqtfpf
      421 lgrvaglcsn irdssfqskq tgrrdtkvvs mvgrvqmdml qvllreyklr sytlnavsfh
      481 flgeqkedvq hsiitdlqng ndqtrrrlav yclkdaylpl rllerlmvlv navemarvtg
      541 vplsyllsrg qqvkvvsqll rqamhegllm pvvksegged ytgatviepl kgyydvpiat
      601 ldfsslypsi mmahnlcytt llrpgtaqkl gltedqfirt ptgdefvkts vrkgllpqil
      661 enllsarkra kaelaketdp lrrqvldgrq lalkvsansv ygftgaqvgk lpcleisqsv
      721 tgfgrqmiek tkqlveskyt vengystsak vvygdtdsvm crfgvssvae amalgreaad
      781 wvsghfpspi rlefekvyfp ylliskkrya gllfssrpda hdrmdckgle avrrdncplv
      841 anlvtaslrr llidrdpega vahaqdvisd llcnridisq lvitkeltra asdyagkqah
      901 velaermrkr dpgsapslgd rvpyviisaa kgvaaymkse dplfvlehsl pidtqyyleq
      961 qlakpllrif epilgegrae avllrgdhtr cktvltgkvg gllafakrrn ccigcrtvls
     1021 hqgavcefcq preselyqke vshlnaleer fsrlwtqcqr cqgslhedvi ctsrdcpify
     1081 mrkkvrkdle dqeqllrrfg ppgpeaw
//
LOCUS       XP_054177597            1517 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase S isoform X16 [Homo
            sapiens].
ACCESSION   XP_054177597
VERSION     XP_054177597.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321622.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1517
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1517
                     /product="receptor-type tyrosine-protein phosphatase S
                     isoform X16"
                     /calculated_mol_wt=170172
     CDS             1..1517
                     /gene="PTPRS"
                     /gene_synonym="PTPSIGMA; R-PTP-S; R-PTP-sigma"
                     /coded_by="XM_054321622.1:261..4814"
                     /db_xref="GeneID:5802"
                     /db_xref="HGNC:HGNC:9681"
                     /db_xref="MIM:601576"
ORIGIN      
        1 maptwgpgmv svvgpmgllv vllvggcaae epprfikepk dqigvsggva sfvcqatgdp
       61 kprvtwnkkg kkvnsqrfet iefdesagav lriqplrtpr denvyecvaq nsvgeitvha
      121 kltvlredql psgfpnidmg pqlkvvertr tatmlcaasg npdpeitwfk dflpvdpsas
      181 ngrikqlrsg alqiesseet dqgkyecvat nsagvryssp anlyvrvrrv aprfsilpms
      241 heimpggnvn itcvavgspm pyvkwmqgae dltpeddmpv grnvleltdv kdsanytcva
      301 msslgvieav aqitvkslpk apgtpmvten tatsititwd sgnpdpvsyy vieyksksqd
      361 gpyqikedit ttrysiggls pnseyeiwvs avnsigqgpp sesvvtrtge qapasaprnv
      421 qarmlsattm ivqweepvep nglirgyrvy ytmepehpvg nwqkhnvdds llttvgslle
      481 detytvrvla ftsvgdgpls dpiqvktqqg vpgqpmnlra earsetsitl swspprqesi
      541 ikyellfreg dhgrevgrtf dpttsyvved lkpnteyafr laarspqglg aftpvvrqrt
      601 lqsispknfk vkmimktsvl lswefpdnyn sptpykiqyn gltldvdgrt tkklithlkp
      661 htfynfvltn rgsslgglqq tvtawtafnl lngkpsvapk pdadgfimvy lpdgqspvpv
      721 qsyfivmvpl rksrggqflt plgspedmdl eeliqdisrl qrrslrhsrq levprpyiaa
      781 rfsvlpptfh pgdqkqyggf dnrglepghr yvlfvlavlq kseptfaasp fsdpfqldnp
      841 dpqpivdgee gliwvigpvl avvfiicivi aillyknkpd skrkdseprt kcllnnadla
      901 phhpkdpvem rrinfqtpds glrsplrepg fhfesmlshp pipiadmaeh terlkandsl
      961 klsqeyesid pgqqftwehs nlevnkpknr yanviaydhs rvilqpiegi mgsdyinany
     1021 vdgyrrqnay iatqgplpet fgdfwrmvwe qrsativmmt rleeksrikc dqywpnrgte
     1081 tygfiqvtll dtielatfcv rtfslhkngs sekrevrqfq ftawpdhgvp eyptpflafl
     1141 rrvktcnppd agpivvhcsa gvgrtgcfiv idamlerikp ektvdvyghv tlmrsqrnym
     1201 vqtedqysfi healleavgc gntevparsl yayiqklaqv epgehvtgme lefkrlansk
     1261 ahtsrfisan lpcnkfknrl vnimpyestr vclqpirgve gsdyinasfi dgyrqqkayi
     1321 atqgplaett edfwrmlwen nstivvmltk lremgrekch qywpaersar yqyfvvdpma
     1381 eynmpqyilr efkvtdardg qsrtvrqfqf tdwpeqgvpk sgegfidfig qvhktkeqfg
     1441 qdgpisvhcs agvgrtgvfi tlsivlermr yegvvdifqt vkmlrtqrpa mvqtedeyqf
     1501 cyqaaleylg sfdhyat
//
LOCUS       XP_054177645            1137 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of nonsense transcripts 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054177645
VERSION     XP_054177645.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321670.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1137
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1137
                     /product="regulator of nonsense transcripts 1 isoform X1"
                     /calculated_mol_wt=125096
     CDS             1..1137
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2; UTF"
                     /coded_by="XM_054321670.1:252..3665"
                     /db_xref="GeneID:5976"
                     /db_xref="HGNC:HGNC:9962"
                     /db_xref="MIM:601430"
ORIGIN      
        1 msveaygpss qtltfldtee aellgadtqg sefeftdftl psqtqtppgg pggpggggag
       61 gpggagagaa agqldaqvgp egilqngavd dsvaktsqll aelnfeedee dtyytkdlpi
      121 hacsycgihd pacvvycnts kkwfcngrgn tsgshivnhl vrakckevtl hkdgplgetv
      181 lecyncgcrn vfllgfipak adsvvvllcr qpcasqsslk dinwdssqwq pliqdrcfls
      241 wlvkipseqe qlrarqitaq qinkleelwk enpsatledl ekpgvdeepq hvllryeday
      301 qyqnifgplv kleadydkkl kesqtqdnit vrwdlglnkk riayftlpkt dsgnedlvii
      361 wlrdmrlmqg deiclrykgd laplwkgigh vikvpdnanl tqhtdygdei aielrssvga
      421 pvevthnfqv dfvwkstsfd rmqsalktfa vdetsvsgyi yhkllgheve dviikcqlpk
      481 rftaqglpdl nhsqvyavkt vlqrplsliq gppgtgktvt sativyhlar qgngpvlvca
      541 psniavdqlt ekihqtglkv vrlcaksrea idspvsflal hnqirnmdsm pelqklqqlk
      601 detgelssad ekryralkrt aerellmnad vicctcvgag dprlakmqfr silidestqa
      661 tepecmvpvv lgakqlilvg dhcqlgpvvm ckkaakagls qslferlvvl girpirlqvq
      721 yrmhpalsaf psnifyegsl qngvtaadrv kkgfdfqwpq pdkpmffyvt qgqeeiassg
      781 tsylnrteaa nvekittkll kagakpdqig iitpyegqrs ylvqymqfsg slhtklyqev
      841 eiasvdafqg rekdfiilsc vranehqgig flndprrlnv altrarygvi ivgnpkalsk
      901 qplwnhllny ykeqkvlveg plnnlreslm qfskprklvn tinpgarfmt tamydareai
      961 ipgsvydrss qgrpssmyfq thdqigmisa gpshvaamni pipfnlvmpp mpppgyfgqa
     1021 ngpaagrgtp kgktgrggrq knrfglpgps qtnlpnsqas qdvasqpfsq galtqgyism
     1081 sqpsqmsqpg lsqpelsqds ylgdefksqi dvalsqdsty qgerayqhgg vtglsqy
//
LOCUS       XP_054178342             454 aa            linear   PRI 20-MAR-2023
DEFINITION  transcriptional enhancer factor TEF-4 isoform X1 [Homo sapiens].
ACCESSION   XP_054178342
VERSION     XP_054178342.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322367.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..454
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..454
                     /product="transcriptional enhancer factor TEF-4 isoform
                     X1"
                     /calculated_mol_wt=49835
     CDS             1..454
                     /gene="TEAD2"
                     /gene_synonym="ETF; TEAD-2; TEF-4; TEF4"
                     /coded_by="XM_054322367.1:91..1455"
                     /db_xref="GeneID:8463"
                     /db_xref="HGNC:HGNC:11715"
                     /db_xref="MIM:601729"
ORIGIN      
        1 mgepragaal ddgsgwtgse egseegtggs egaggdggpd aegvwspdie qsfqealaiy
       61 ppcgrrkiil sdegkmygrn eliaryiklr tgktrtrkqv sshiqvlarr ksreiqsklk
      121 alnvdqvskd kafqtmatms saqlisapsl qaklgptgpq vvqaselfqf wsggsgppwn
      181 vpdvkpfsqt pftlsltpps tdlpgyeppq alsplppptp sppawqargl gtarlqlvef
      241 safveppdav dsyqrhlfvh isqhcpspga pplesvdvrq iydkfpekkg glrelydrgp
      301 phafflvkfw adlnwgpsge eagaggsiss ggfygvssqy eslehmtltc sskvcsfgkq
      361 vvekvetera qledgrfvyr llrspmceyl vnflhklrql perymmnsvl enftilqvvt
      421 nrdtqelllc tayvfevsts ergaqhhiyr lvrd
//
LOCUS       XP_054196529             241 aa            linear   PRI 20-MAR-2023
DEFINITION  ly6/PLAUR domain-containing protein 6B isoform X1 [Homo sapiens].
ACCESSION   XP_054196529
VERSION     XP_054196529.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340554.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..241
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..241
                     /product="ly6/PLAUR domain-containing protein 6B isoform
                     X1"
                     /calculated_mol_wt=27025
     CDS             1..241
                     /gene="LYPD6B"
                     /gene_synonym="CT116; LYPD7"
                     /coded_by="XM_054340554.1:326..1051"
                     /db_xref="GeneID:130576"
                     /db_xref="HGNC:HGNC:27018"
ORIGIN      
        1 mdvklkkqpe swqrkdsvvf lslssqwtat alsiiglitl sanlftvper sltttfsfsr
       61 ykssdrpahk vsmlllchal aiavvqivif seswafakni nfynvrppld ptpfpnsfkc
      121 ftcenagdny ncnrwaedkw cpqntqyclt vhhftshgrs tsitkkcasr sechfvgchh
      181 srdsehtecr sccegmicnv elptnhtnav favmhaqrts gssaptlylp vlawvfvlpl
      241 l
//
LOCUS       XP_054197360             851 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase 36 isoform X2 [Homo sapiens].
ACCESSION   XP_054197360
VERSION     XP_054197360.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341385.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..851
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..851
                     /product="serine/threonine-protein kinase 36 isoform X2"
                     /calculated_mol_wt=94003
     CDS             1..851
                     /gene="STK36"
                     /gene_synonym="CILD46; FU"
                     /coded_by="XM_054341385.1:138..2693"
                     /db_xref="GeneID:27148"
                     /db_xref="HGNC:HGNC:17209"
                     /db_xref="MIM:607652"
ORIGIN      
        1 mekyhvlemi gegsfgrvyk grrkysaqvv alkfipklgr sekelrnlqr eieimrglrh
       61 pnivhmldsf etdkevvvvt dyaegelfqi leddgklped qvqaiaaqlv salyylhshr
      121 ilhrdmkpqn illakgggik lcdfgfaram stntmvltsi kgtplymspe lveerpydht
      181 adlwsvgcil yelavgtppf yatsifqlvs lilkdpvrwp stispcfknf lqglltkdpr
      241 qrlswpdlly hpfiaghvti itepagpdlg tpftsrlppe lqvlkdeqah rlapkgnqsr
      301 iltqaykrma eeamqkkhqn tgpaleqedk tskvapgtap lprlgatpqe ssllagilas
      361 elksswaksg tgevpsapre nrttpdcera fpeerpevlg qrstdvvdle neepdsdnew
      421 qhllettepv piqlkapltl lcnpdfcqri qsqlheaggq ilkgilegas hilpafrvls
      481 sllsscsdsv alysfcreag lpglllsllr hsqesnslqq qswygtflqd lmaviqayfa
      541 ctfnlersqt sdslqvfqea anlfldllgk llaqpddseq tlrrdslmcf tvlceamdgn
      601 sraiskafys sllttqqvvl dgllhgltvp qlpvhtpqga pqvsqplreq sedipgaiss
      661 alaaictapv glpdcwdake qvcwhlanql tedssqlrps lisglqhpil clhllkvlys
      721 cclvseglcr llgqeplale slfmliqgkv kvvdweeste vtlyflsllv frlqnlpcgm
      781 eklgsdvatl fthshvvslv saaacllgql gqqgvtfdlq pmewmaaath alsapaellt
      841 evqmdlgmdg k
//
LOCUS       XP_054198614            1981 aa            linear   PRI 20-MAR-2023
DEFINITION  HEAT repeat-containing protein 5B isoform X5 [Homo sapiens].
ACCESSION   XP_054198614
VERSION     XP_054198614.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342639.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1981
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1981
                     /product="HEAT repeat-containing protein 5B isoform X5"
                     /calculated_mol_wt=214735
     CDS             1..1981
                     /gene="HEATR5B"
                     /gene_synonym="p200; p200a"
                     /coded_by="XM_054342639.1:127..6072"
                     /db_xref="GeneID:54497"
                     /db_xref="HGNC:HGNC:29273"
                     /db_xref="MIM:619627"
ORIGIN      
        1 melahsllln eealaqitea krpvfifewl rfldkvlvaa nktdvkekqk klveqltgli
       61 ssspgpptrk llaknlaaly sigdtftvfq tldkcndiir nkddtaaylp tklaavacvg
      121 afyekmgrml gsafpetvnn llkslksaes qgrseilmsl qkvlsglgga aasshrdiyk
      181 narslltdrs mavrcavakc llelqneavf mwtaelenia tlcfkalens nygvrvavsk
      241 llgtvmatal mpkqatvmrq nvkratfdev lelmatgflr ggsgflksgg emlkvggsvn
      301 revrvgvtqa yvvfvttlgg qwlersfatf lshvldlvsh pratqthvea vysrrcvsfi
      361 lratvgsllg ekaqiaaake icqaigkqmk aveavvndts genksgaadi aasqhvmvca
      421 lqelgslvqs lnataspliq easiglleiv tsvllhpsma arlaaawclr cvavalpfql
      481 tpfldrcaer lnnlktspea vsgysfamaa llggvhqcpl giphakgkmv vsiaedllrt
      541 aaqnsrlslq rtqagwlllg almtlgpsvv ryhlpkmlll wrnvfprslk eleaekargd
      601 sftwqvtleg ragalcamrs fvahcpellt edvirklmtp iecamtmmsh ipsvmkahga
      661 hlkasaamvr lrlydilall ppktyegsfn allrelvaef tltdnsantt tsllrslchy
      721 ddsvllgswl qetdhksied qlqpnsasgs galehdpssi ylripageav pgplplgvsv
      781 idasvalfgv vfphvsykhr lqmldhfaec vkqakgvrqq avqlniftav lsalkglaen
      841 kstlgpeevr ksaltlvmgp ldnpnpilrc aagealgrma qvvgeatfia rmaqysfdkl
      901 ksardvvsrt ghslalgclh ryvggigsgq hlktsvsill alaqdgtspe vqtwslhsla
      961 livdssgpmy rgyveptlsl vltllltvpp shtevhqclg rclgaiittv gpelqgngat
     1021 tstirssclv gcaitqdhsd slvqaaaisc lqqlhmfapr hvnlsslvps lcvhlcsshl
     1081 llrraavacl rqlaqreaae vceyamslak ntgdkesssa nvspfapgvs srtdihcrhq
     1141 gvnitetgle gllfgmldre tdrklcsdih dtlghmlssl aveklshwlm lckdvlaass
     1201 dmstatllss gkdeeaekkd emdddtmftt lgeedkskpf vaprwatrvf aadclcriin
     1261 lcenadqahf dlalarsakl rnptndllvl hlsdlirmaf maatdhsnql rmaglqaled
     1321 iikkfasvpe pefpghvile qyqanvgaal rpafsqdtps diiakacqvc stwigsgvvs
     1381 dlndlrrvhn llvssldkvq agkgsssqly resattmekl avlkawaevy vvamnikkea
     1441 eskpkraikn tddddddcgt idelppdsli tlvqpelptl srlwlaalkd yalltlpaef
     1501 ssqlppdgga fytpetidta rlhyrnswap ilhavalwln stgftcsest eaaaisglqk
     1561 rstsvnlnqa sgavgsaksl peinkdrmhl ilgvsiqflc sprpeepieh vtaclqalht
     1621 lldspyarvh iaedqligve llsvlhrlll twnpssvqll vtgvvqqivr aaqdylqekr
     1681 ntlrcmtilp tilfliaril kdtaiksadn qvpppvsaal qgiksivtls makteagvqk
     1741 qwtalirstl acileysqpd svptpdevsm ltaialflws asneiigvqs lqngcmnrfk
     1801 nalnscdpwv qakcyqllls vfqhsnrals tpyihslapi vveklkaver nrpasniell
     1861 avqegikvle tlvalgeeqn rvqllallvp tlisyllden sfasassask dlhefalqnl
     1921 mhigplypha fktvmgaape lkvrletavr asqaskakaa arqpapaihs aptiklktsf
     1981 f
//
LOCUS       XP_054179008             202 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C20orf173 isoform X1 [Homo sapiens].
ACCESSION   XP_054179008
VERSION     XP_054179008.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323033.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..202
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..202
                     /product="uncharacterized protein C20orf173 isoform X1"
                     /calculated_mol_wt=23208
     CDS             1..202
                     /gene="C20orf173"
                     /gene_synonym="dJ477O4.4"
                     /coded_by="XM_054323033.1:162..770"
                     /db_xref="GeneID:140873"
                     /db_xref="HGNC:HGNC:16166"
ORIGIN      
        1 mkrwqifvlw vfwvlilwlm tpyldltpes apqekrmylv pqhcdcpwfs sgkcgcpset
       61 lncsschhta dewnwldacs rktmgylmrt resmtsdtvl wwlgmnsgse lgklwrklfk
      121 giprlsvshf dfycgtcvll grpqipqgss lgndidqypv vfrnasdqgs wmqlemllrk
      181 lsdlvwtsda lsdkiledgl vp
//
LOCUS       XP_054179353             320 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ALEX isoform X8 [Homo sapiens].
ACCESSION   XP_054179353
VERSION     XP_054179353.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323378.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..320
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..320
                     /product="protein ALEX isoform X8"
                     /calculated_mol_wt=37382
     CDS             1..320
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /coded_by="XM_054323378.1:295..1257"
                     /db_xref="GeneID:2778"
                     /db_xref="HGNC:HGNC:4392"
                     /db_xref="MIM:139320"
ORIGIN      
        1 mrilhvngfn gdekatkvqd iknnlkeaie tivaamsnlv ppvelanpen qfrvdyilsv
       61 mnvpdfdfpp efyehakalw edegvracye rsneyqlidc aqyfldkidv ikqadyvpsd
      121 qdllrcrvlt sgifetkfqv dkvnfhmfdv ggqrderrkw iqcfndvtai ifvvasssyn
      181 mvirednqtn rlqealnlfk siwnnrwlrt isvilflnkq dllaekvlag kskiedyfpe
      241 faryttpeda tpepgedprv trakyfirde flristasgd grhycyphft cavdtenirr
      301 vfndcrdiiq rmhlrqyell
//
LOCUS       XP_047302890             267 aa            linear   PRI 20-MAR-2023
DEFINITION  WAS protein family homolog 6-like isoform X9 [Homo sapiens].
ACCESSION   XP_047302890
VERSION     XP_047302890.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047446934.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..267
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..267
                     /product="WAS protein family homolog 6-like isoform X9"
                     /calculated_mol_wt=27900
     Region          <1..96
                     /region_name="WASH_WAHD"
                     /note="WAHD domain of WASH complex; pfam11945"
                     /db_xref="CDD:432209"
     CDS             1..267
                     /gene="LOC124908094"
                     /coded_by="XM_047446934.1:602..1405"
                     /db_xref="GeneID:124908094"
ORIGIN      
        1 mlgaeteekl fdaplsiskr eqleqqvpen yfyvpdlgqv peidvpsylp dlpgiandlm
       61 ysadlgpgia psapgtipel ptfhtevaep lkadlqdgvl tapppppppp ppppapevla
      121 sasplppsta apvgqgarqd dgsssaspsv qgaprevvdp sggratlles irqaggigka
      181 klrsvkerkl ekkkqkeqeq vratsqggdl msdlfnklvm rrkgisgkgp gagegpggaf
      241 arvsdsippl pppqqpqaee deddwes
//
LOCUS       XP_054201996             628 aa            linear   PRI 20-MAR-2023
DEFINITION  armadillo repeat-containing protein 8 isoform X3 [Homo sapiens].
ACCESSION   XP_054201996
VERSION     XP_054201996.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346021.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 13% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..628
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..628
                     /product="armadillo repeat-containing protein 8 isoform
                     X3"
                     /calculated_mol_wt=70253
     CDS             1..628
                     /gene="ARMC8"
                     /gene_synonym="GID5; HSPC056; S863-2; VID28"
                     /coded_by="XM_054346021.1:426..2312"
                     /db_xref="GeneID:25852"
                     /db_xref="HGNC:HGNC:24999"
                     /db_xref="MIM:618521"
ORIGIN      
        1 mevtassrhy vdrlfdpdpq kvlqgvidmk navignnkqk anlivlgavp rllyllqqet
       61 sstelkteca vvlgslamgt ennvkslldc hiipallqgl lspdlkfiea clrclrtift
      121 spvtpeelly tgpdhqtilf nhgavqniah lltslsykvr mqalkcfsvl afenpqvsmt
      181 lvnvlvdgel lpqifvkmlq rdkpiemqlt sakcltymcr agairtddnc ivlktlpclv
      241 rmcskerlle ervegaetla yliepdvelq riasitdhli amladyfkyp ssvsaitdik
      301 rldhdlkhah elrqaafkly aslgandedi rkkiietenm mdrivtglse ssvkvrlaav
      361 rclhslsrsv qqlrtsfqdh avwkplmkvl qnapdeilvv assmlcnlll efspskepil
      421 esgavellcg ltqsenpalr vngiwalmnm afqaeqkika dilrslsteq lfrllsdsdl
      481 nvlmktlgll rnllstrphi dkimsthgkq imqavtlile gehnievkeq tlcilaniad
      541 gttakdlimt nddilqkiky ymghshvklq laamfcisnl iwneeegsqe rqdklrdmgi
      601 vdilhklsqs pdsnlcdkak malqqyla
//
LOCUS       XP_054205682             429 aa            linear   PRI 20-MAR-2023
DEFINITION  IQ domain-containing protein M isoform X3 [Homo sapiens].
ACCESSION   XP_054205682
VERSION     XP_054205682.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349707.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..429
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..429
                     /product="IQ domain-containing protein M isoform X3"
                     /calculated_mol_wt=51140
     CDS             1..429
                     /gene="IQCM"
                     /coded_by="XM_054349707.1:394..1683"
                     /db_xref="GeneID:285423"
                     /db_xref="HGNC:HGNC:53443"
ORIGIN      
        1 mtteeampek akcptleitk qdffqeaktl iaqhyekine nkvqgtsinv frkkhqkpks
       61 gkyipleidk kvtrdvvqeh raalrricfp kelsksehlq eppqrisfke phifsrrerc
      121 rpidlitkgq vkldkimtii epvskkmeta kqqhfeesrn rmlellypfp vhlylqpgts
      181 nlellkepdk afydwrgfvl trsfrlacds rrvsfsqsss ifrdyysivc swhinmllif
      241 ktfktlikke rqpikpepks qprikgtpnk tdkldskvkr igphieifqv frerkkfmit
      301 pklirmvtvm qahvrgwler krlqrvmtka ldhgpdmkav inmygrlihr vryrrglwrt
      361 rqilnlaele ewmdrkkfye imfakredwp kiernelpnf fsdcghfptq kqvddtwdlv
      421 hqattlfda
//
LOCUS       XP_054206143            1008 aa            linear   PRI 20-MAR-2023
DEFINITION  rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
            isoform X7 [Homo sapiens].
ACCESSION   XP_054206143
VERSION     XP_054206143.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350168.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1008
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1008
                     /product="rod cGMP-specific 3',5'-cyclic phosphodiesterase
                     subunit beta isoform X7"
                     /calculated_mol_wt=114132
     CDS             1..1008
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /coded_by="XM_054350168.1:1657..4683"
                     /db_xref="GeneID:5158"
                     /db_xref="HGNC:HGNC:8786"
                     /db_xref="MIM:180072"
ORIGIN      
        1 mraaifsgka svlfpvgqrv tpssvvppcv rpsfvaclhc rcqagdtqdr psmgflgvha
       61 cleqqrlqgq aatmslseeq arsfldqnpd farqyfgkkl spenvaaace dgcppdcdsl
      121 rdlcqveest allelvqdmq esinmervvf kvlrrlctll qadrcslfmy rqrngvaela
      181 trlfsvqpds vledclvppd seivfpldig vvghvaqtkk mvnvedvaec phfssfadel
      241 tdyktknmla tpimngkdvv avimavnkln gpfftseded vflkylnfat lylkiyhlsy
      301 lhncetrrgq vllwsankvf eeltdierqf hkafytvray lncerysvgl ldmtkekeff
      361 dvwsvlmges qpysgprtpd greivfykvi dyilhgkeei kviptpsadh walasglpsy
      421 vaesgficni mnasademfk fqegalddsg wliknvlsmp ivnkkeeivg vatfynrkdg
      481 kpfdeqdevl mesltqflgw svmntdtydk mnklenrkdi aqdmvlyhvk cdrdeiqlil
      541 ptrarlgkep adcdedelge ilkeelpgpt tfdiyefhfs dlecteldlv kcgiqmyyel
      601 gvvrkfqipq evlvrflfsi skgyrrityh nwrhgfnvaq tmftllmtgk lksyytdlea
      661 famvtaglch didhrgtnnl yqmksqnpla klhgssiler hhlefgkfll seetlniyqn
      721 lnrrqhehvi hlmdiaiiat dlalyfkcap sgrgrlagra gslgppadtg aqrrhspgda
      781 apdsvparrp raprmgprsg sappcrralg agsphllppa pplfpgfrkr amfqkivdes
      841 knyqdkkswv eylslettrk eivmammmta cdlsaitkpw evqskvallv aaefweqgdl
      901 ertvldqqpi pmmdrnkaae lpklqvgfid fvctfvykef srfheeilpm fdrlqnnrke
      961 wkaladeyea kvkaleekee eervaakkvg teicnggpap ksstccil
//
LOCUS       XP_054208817             824 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM193B isoform X11 [Homo sapiens].
ACCESSION   XP_054208817
VERSION     XP_054208817.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352842.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..824
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..824
                     /product="protein FAM193B isoform X11"
                     /calculated_mol_wt=87848
     CDS             1..824
                     /gene="FAM193B"
                     /gene_synonym="IRIZIO"
                     /coded_by="XM_054352842.1:766..3240"
                     /db_xref="GeneID:54540"
                     /db_xref="HGNC:HGNC:25524"
                     /db_xref="MIM:615813"
ORIGIN      
        1 mrlalqtlhr aagdsgrlvq pegmaldsll veslelcmsp pppaslcrla accvtgnaka
       61 gkkallkmdw ccrislshts cksqscgdds hsssssssss ssssssscpg nsgdwdpssf
      121 lsahklsglw nsphssgamp gsslgsppti pgeafpvseh hqhsdltapp nsptghhpqp
      181 aslipshpss fgspphphll pttpaapfpa qasecpvaaa taphtpgpcq sshlpstsmp
      241 llkmpppfsg cshpcsghcg ghcsgpllpp pssqplpsth rdpgckghkf ahsglacqlp
      301 qpceadeglg eeedsssers sctsssthqr dgkfcdccyc effghnappa aptsrnytei
      361 reklrsrltr rkeelpmkgg tlggipgepa vdhrdvdell efinstepkv pnsaraakra
      421 rhklkkkeke kaqlaaealk qanrvsgsre prparerlle wpdreldrvn sflssrlqei
      481 kntvkdsira sfsvcelsmd sngfskegaa epepqslpps nlsgsseqqp dinldlsplt
      541 lgspqnhtlq apgepappwa emrgphppwt evrgpppgiv penglvrrln tvpnlsrviw
      601 vktpkpgyps seepsskevp sckqelpepv ssggkpqkgk rqgsqakkse aspaprppas
      661 levpsakgqv agpkqpgrvl elpkvgscae agegsrgsrp gpgwagspkt ekekgsswrn
      721 wpgeakarpq eqesvqppgp arpqslpqgk grsrrsrnkq ekpasslddv flpkdmdgve
      781 mdetdrevey fkrfcldsak qtrqkvavnw tnfslkkttp staq
//
LOCUS       XP_054211631            3395 aa            linear   PRI 20-MAR-2023
DEFINITION  fibrocystin isoform X12 [Homo sapiens].
ACCESSION   XP_054211631
VERSION     XP_054211631.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355656.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3395
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3395
                     /product="fibrocystin isoform X12"
                     /calculated_mol_wt=371339
     CDS             1..3395
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; FPC; PKD4; TIGM1"
                     /coded_by="XM_054355656.1:265..10452"
                     /db_xref="GeneID:5314"
                     /db_xref="HGNC:HGNC:9016"
                     /db_xref="MIM:606702"
ORIGIN      
        1 mtawlislms ievlllavrh lslhiepeeg slaggtwitv ifdglelgvl ypnngsqlei
       61 hlvnvnmvvp alrsvpcdvf pvfldlpvvt crtrsvlsea heglyfleay fggqlvsspn
      121 pgprdsctfk fskaqtpivh qvyppsgvpg klihvygwii tgrletfdfd aeyidspvil
      181 eaqgdkwvtp cslinrqmgs cypiqedhgl gtlqchvegd yigsqnvsfs vfnkgksmvh
      241 kkawlisakq dlflyqthse ilsvfpetgs lggrtnitit gdffdnsaqv tiagipcdir
      301 hvsprkiect trapgkdvrl ttpqpgnrgl lfevgdaveg lelteatpgy rwqivpnass
      361 pfgfwsqegq pfrarlsgff vapetnnytf wiqadsqasl hfswseeprt kvkvasisvg
      421 tadwfdsweq nrdegtwqqk tpklellgga myyleaehhg iapsrgmrig vqihntwlnp
      481 dvvttylrek hqirvraqrl pevqvlnvsg rgnffltwdn vssqpipana tahliqttie
      541 ellavkckle plwsnillrl gfergpevsn sdgdltsgte pfcgrfslrq prhlvltppa
      601 aqkgyrldqy thlclaykgh mnkilkmivs ftigfqnmvk nttcdwsltr tspeswqfdc
      661 tdlwetcvrc fgdlqpppan spvlvhqinl lplaqetglf yvdeiiiadt nvtvsqadsg
      721 tarpggnlve svsvvgsppv ysvtswlagc gtelplitac svptegteeg sglvlvttqr
      781 rqrtspplgg hfriqlpntv isdvpvqisa hhlhqllqnn addftsryln asdftvkedl
      841 ytcyehvwtl swstqigdlp nfirvsdenl tgvnpaaatr vvydggvflg pifgdmlata
      901 nqhtqvvvrv ndvpahcpgs csfqylqgst pcvhsvwysi dgdinlmiyi tgtgfsgdsq
      961 flqvtvnkts ckvifsnqtn vvcqtdllpv gmhrilmlvr psglaisatg edlflnvkpr
     1021 ldmvepsraa digglwatir gsslegvsli lfgsyscain vatsnssriq ckvpprgkdg
     1081 rivnvtvirg dysavlpraf tyvsslnpvi vtlsrnisni aggetlvigv arlmnytdld
     1141 vevhvqdala pvhtqsawgl evalpplpag lhrisvsing vsihsqgvdl hiqyltevfs
     1201 iepccgsllg gtilsisgig fsrdpalvwv lvgnrscdiv nlteasiwce tlpapqipda
     1261 gvptvpaave vwagnrffar gpspslvgkg ftfmyeaaat pvvtamqgei tnsslslhvg
     1321 gsnlsnsvil lgnlncdvet qsfqgnvsls gcsiplhsle agiyplqvrq kqmgfanmsv
     1381 vlqqfavmpr imaifpsqgs acggtiltvr glllnsrrrs vrvdlsgpft cvilslgdht
     1441 ilcqvslegd plpgasfsln vtvlvnglts ecqgnctlfi reeaspvmda lstntsgslt
     1501 tvlirgqrla ttadepmvfv ddqlpcnvtf fnashvvcqt rdlapgphyl svfytrngya
     1561 csgnvsrhfy impqvfhyfp knfslhggsl ltiegtglrg qnttsvyidq qtcltvniga
     1621 elircivptg ngsvaleiev dglwyhigvi gynkaftpel isisqsddil tfavaqisga
     1681 anidifigms pcvgvsgnht vlqcvvpslp ageyhvrgyd cirgwassal vftsrviita
     1741 vtenfgclgg rlvhvfgagf spgnvsaavc gapcrvlana tvsafsclvl pldvslaflc
     1801 glkreedsce aarhtyvqcd ltvamateql leswpylyic eessqclfvp dhwaesmfps
     1861 fsglfispkv erdevliyns scnitmetea emecetpnqp itvkiteirk rwgqntqgnf
     1921 slqfcrrwsr thswfperlp qdgdnvtven gqlllldtnt silnllhikg gklifmapgp
     1981 ielrahailv sdggelrigs edkpfqgraq itlygssyst pffpygvkfl avrngtlslh
     2041 gslpevivtc lratahaldt vlaledavdw npgdevviis gtgvkgakpm eeivtvetvq
     2101 dtdlylkspl ryshnftenw vagehhilka tvallsrsit iqgnltnere kllvscqean
     2161 apegnlqhcl ysmsekmlgs rdmgarvivq sfpeepsqvq lkgvqfqvlg qafhkhlssl
     2221 tlvgamresf iqgctvrnsf srglsmcgtl glkvdsnvfy nilghallvg tctemryisw
     2281 eaihgrkddw sghgniirnn viiqvsgaeg lsnpemltps giyicsptnv iegnrvcgag
     2341 ygyffhlmtn qtsqapllsf tqniahsctr yglfvypkfq ppwdnvtgtt lfqsftvwes
     2401 aggaqifrss nlrlknfkvy scrdfgidvl esdantsvtd slllghfahk gslcmssgik
     2461 tpkrwelmvs nttfvnfdli ncvairtcsd csqgqggftv ktsqlkftns snlvafpfph
     2521 aailedldgs lsgknrshil asmetlsasc lvnssfgrvv hgsacgggvl fhrmsiglan
     2581 tpevsydltm tdsrnktttv nyvrdtlsnp rgwmallldq etyslqsenl winrslqysa
     2641 tfdnfapgny lllvhtdlpp ypdillrcgs rvglsfpflp spgqnqgcdw ffnsqlrqlt
     2701 ylvsgegqvq vilrvkegmp ptisastsap esalkwslpe twqgveegwg gynntipgpg
     2761 ddvlilpnrt vlvdtdlpff kglyvmgtld fpvdrsnvls vacmviagge lkvgtlenpl
     2821 ekeqkllill rasegvfcdr mngihidpgt igvygkvhly saypknswth lgadiasgne
     2881 riivedavdw rphdkivlss ssyepheaev ltvkevkghh vriyerlkhr higsvhvted
     2941 grhirlaaev glltrniqiq pdvscrgrlf vgsfrkssre efsgvlqlln veiqnfgspl
     3001 yssvefsnvs agswiisstl hqscgggiha aashgvllnd nivfgtaghg idlegqaytv
     3061 tnnlvvlmtq pawstiwvag ikvnqvkdin lhgnvvagse rlgfhirghk csscellwsd
     3121 nvahsslhgl hlykesgldn ctrisgflaf knfdygamlh vensveieni tlvdntigll
     3181 avvyvfsapq nsvkkvqivl rnsvivatss sfdciqdkvk phsanltstd rapsnprggr
     3241 igilwpvfts epnqwpqepw hkvrndhsis gimklqdvtf ssfvkscysd dldvcilpna
     3301 ensgimhpit aertrmlkik dknkfyfpsl qprkdlgkvv cpeldcaspr kylfkdldgr
     3361 alglpppvsv fpkteaewta sffnaeiqav lklgt
//
LOCUS       XP_054214006             600 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-glucuronidase isoform X1 [Homo sapiens].
ACCESSION   XP_054214006
VERSION     XP_054214006.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358031.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..600
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..600
                     /product="beta-glucuronidase isoform X1"
                     /calculated_mol_wt=68995
     CDS             1..600
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /coded_by="XM_054358031.1:31..1833"
                     /db_xref="GeneID:2990"
                     /db_xref="HGNC:HGNC:4696"
                     /db_xref="MIM:611499"
ORIGIN      
        1 margsavawa algpllwgca lglqggmlyp qespsrecke ldglwsfrad fsdnrrrgfe
       61 eqwyrrplwe sgptvdmpvp ssfndisqdw rlrhfvgwvw yerevilper wtqdlrtrvv
      121 lrigsahsya ivwvngvdtl eheggylpfe adisnlvqvg plpsrlriti ainntltptt
      181 lppgtiqylt dtskypkgyf vqntyfdffn yaglqrsvll yttpttyidd itvttsveqd
      241 sglvnyqisv kgsnlfklev rlldaenkvv angtgtqgql kvpgvslwwp ylmherpayl
      301 ysleirgkgf dwpllvkdfn llrwlganaf rtshypyaee vmqmcdrygi vvidecpgvg
      361 lalpqffnnv slhhhmqvme evvrrdknhp avvmwsvane pashlesagy ylkmviahtk
      421 sldpsrpvtf vsnsnyaadk gapyvdvicl nsyyswyhdy ghleliqlql atqfenwykk
      481 yqkpiiqsey gaetiagfhq dpplmfteey qkslleqyhl gldqkrrkyv vgeliwnfad
      541 fmteqsptrv lgnkkgiftr qrqpksaafl lrerywkian etryphsvak sqclenspft
//
LOCUS       XP_054214755             674 aa            linear   PRI 20-MAR-2023
DEFINITION  fidgetin-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054214755
VERSION     XP_054214755.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358780.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..674
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..674
                     /product="fidgetin-like protein 1 isoform X1"
                     /calculated_mol_wt=73946
     CDS             1..674
                     /gene="FIGNL1"
                     /coded_by="XM_054358780.1:419..2443"
                     /db_xref="GeneID:63979"
                     /db_xref="HGNC:HGNC:13286"
                     /db_xref="MIM:615383"
ORIGIN      
        1 mqtsssrsvh lsewqknyfa itsgictgpk adayraqilr iqyawansei sqvcatklfk
       61 kyaekysaii dsdnvesgln nyaeniltla gsqqtdsdkw qsglsinnvf kmssvqkmmq
      121 agkkfkdsll epalasvvih keatvfdlpk fsvcgssqes dslpnsahdr drtqdfpesn
      181 rlkllqnaqp pmvtntartc ptfsapvges atakfhvtpl fgnvkkenhs sakeniglnv
      241 flsnqscfpa acenpqrksf ygsgtidals npilnkacsk tedngpkeds slptfktake
      301 qlwvdqqkky hqpqrasgss yggvkkslga srsrgilgkf vppipkqdgg eqnggmqckp
      361 ygagptepah pvderlknle pkmielimne imdhgppvnw ediagvefak atikeivvwp
      421 mlrpdiftgl rgppkgillf gppgtgktli gkciasqsga tffsisassl tskwvgegek
      481 mvralfavar cqqpavifid eidsllsqrg dgehessrri kteflvqldg attssedril
      541 vvgatnrpqe ideaarrrlv krlyiplpea sarkqivinl mskeqcclse eeieqivqqs
      601 dafsgadmtq lcreaslgpi rslqtadiat itpdqvrpia yidfenafrt vrpsvspkdl
      661 elyenwnktf gcgk
//
LOCUS       XP_054215133             357 aa            linear   PRI 20-MAR-2023
DEFINITION  armadillo repeat-containing protein 10 isoform X3 [Homo sapiens].
ACCESSION   XP_054215133
VERSION     XP_054215133.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359158.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..357
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..357
                     /product="armadillo repeat-containing protein 10 isoform
                     X3"
                     /calculated_mol_wt=38768
     CDS             1..357
                     /gene="ARMC10"
                     /gene_synonym="PNAS-112; PNAS112; PSEC0198; SVH"
                     /coded_by="XM_054359158.1:134..1207"
                     /db_xref="GeneID:83787"
                     /db_xref="HGNC:HGNC:21706"
                     /db_xref="MIM:611864"
ORIGIN      
        1 mggprgagwv aaglllgaga cyciyrltrg rrrgdrelgi rssksagale egtsegqlcg
       61 rsarpqtggt wesqwsktsq pgvcfgngns clrethppsg qmhdsvsvqk ligtlkpske
      121 dltdgsyddv lnaeqlqkll yllestedpv iieralitlg nnaafsvnqa iirelggipi
      181 vankinhsnq sikekalnal nnlsvnvenq ikikiyisqv cedvfsgpln savqlagltl
      241 ltnmtvtndh qhmlhsyitd lfqvlltgng ntkvdssfls lydshvakei llrvltlfqn
      301 iknclkiegh lavqptfteg slffllhgee caqkiralvd hhdaevkekv vtiipki
//
LOCUS       XP_054216233            1337 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor A2 isoform X2 [Homo sapiens].
ACCESSION   XP_054216233
VERSION     XP_054216233.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360258.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 22% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1337
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1337
                     /product="adhesion G protein-coupled receptor A2 isoform
                     X2"
                     /calculated_mol_wt=142341
     CDS             1..1337
                     /gene="ADGRA2"
                     /gene_synonym="GPR124; TEM5"
                     /coded_by="XM_054360258.1:387..4400"
                     /db_xref="GeneID:25960"
                     /db_xref="HGNC:HGNC:17849"
                     /db_xref="MIM:606823"
ORIGIN      
        1 mgaggrrmrg aparlllpll pwlllllape argapgcpls irsckcsger pkglsggvpg
       61 parrrvvcsg gdlpeppepg llpngtvtld lrnniistvq pgaflglgel krldlsnnri
      121 gcltsetfqg lprllrlnis gnifsslqpg vfdelpalkv vdlgtefltc dchlrwllpw
      181 aqnrslqlse htlcaypsal haqalgslqe aqlccegale lhthhlipsl rqvvfqgdrl
      241 pfqcsasylg ndtrirwyhn rapvegdeqa gillaeslih dctfitselt lshigvwasg
      301 ewectvsmaq gnaskkveiv vletsasycp aervannrgd frwprtlagi tayqsclqyp
      361 ftsvplggga pgtrasrrcd ragrwepgdy shclytndit rvlytfvlmp inasnaltla
      421 hqlrvytaea asfsdmmdvv yvaqmiqkfl gyvdqikelv evmvdmasnl mlvdehllwl
      481 aqredkacsr ivgalerigg aalsphaqhi svnarnvale aylikphsyv gltctafqrr
      541 eggvpgtrpg spgqnpppep eppadqqlrf rcttgrpnvs lssfhiknsv alasiqlpps
      601 lfsslpaala ppvppdctlq llvfrngrlf hshsntsrpg aagpgkrrgv atpvifagts
      661 gcgvgnltep vavslrhwae gaepvaawws qegpgeaggw tsegcqlrss qpnvsalhcq
      721 hlgnvavlme lsafprevgg agaglhpvvy pctallllcl fatiityiln hssirvsrkg
      781 whmllnlcfh iamtsavfag gitltnyqmv cqavgitlhy sslstllwmg vkarvlhkel
      841 twrapppqeg dpalptpspm lryilsipal qlgrdsnagv gnlprfylia ggipliicgi
      901 taavnihnyr dhspycwlvw rpslgafyip valillitwi yflcaglrlr gplaqnpkag
      961 nsrasleage elrgstrlrg sgpllsdsgs llatgsarvg tpgppedgds lyspgvqlga
     1021 lvtthflyla mwacgalavs qrwlprvvcs clygvaasal glfvfthhca rrrdvraswr
     1081 accppaspaa phappralpa aaedgspvfg egppslkssp sgssghplal gpckltnlql
     1141 aqsqvceaga aaggegepep agtrgnlahr hpnnvhhgrr ahksrakghr ageacgknrl
     1201 kalrggaaga lellssesgs lhnsptdsyl gssrnspgag lqlegepmlt psegsdtsaa
     1261 plseagragq rrsasrdslk gggalekesh rrsyplnaas lngapkggky ddvtlmgaev
     1321 asggcmktgl wksettv
//
LOCUS       XP_054216772             625 aa            linear   PRI 20-MAR-2023
DEFINITION  integrator complex subunit 9 isoform X5 [Homo sapiens].
ACCESSION   XP_054216772
VERSION     XP_054216772.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360797.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..625
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..625
                     /product="integrator complex subunit 9 isoform X5"
                     /calculated_mol_wt=69490
     CDS             1..625
                     /gene="INTS9"
                     /gene_synonym="CPSF2L; INT9; RC74"
                     /coded_by="XM_054360797.1:88..1965"
                     /db_xref="GeneID:55756"
                     /db_xref="HGNC:HGNC:25592"
                     /db_xref="MIM:611352"
ORIGIN      
        1 mklyclsghp tlpcnvlkfk sttimldcgl dmtstlnflp lplvqsprls nlpgwslkdg
       61 nafldkteli dlstvdvili snyhcmmalp yitehtgftg tvyateptvq igrllmeelv
      121 nfiervpkaq saslwknkdi qrllpsplkd avevstwrrc ytmqevnsal skiqlvgysq
      181 kielfgavqv tplssgyalg ssnwiiqshy ekvsyvsgss lltthpqpmd qaslknsdvl
      241 vltgltqipt anpdgmvgef csnlaltvrn ggnvlvpcyp sgviydllec lyqyidsagl
      301 ssvplyfisp vansslefsq ifaewlchnk qskvylpepp fphaeliqtn klkhypsihg
      361 dfsndfrqpc vvftghpslr fgdvvhfmel wgksslntvi ftepdfsyle alapyqplam
      421 kciycpidtr lnfiqvskll kevqplhvvc peqytqpppa qshrmdlmid cqppamsyrr
      481 aevlalpfkr ryekieimpe ladslvpmei kpgislatvs avlhtkdnkh llqppprpaq
      541 ptsgkkrkrv sddvpdckvl kpllsgsipv eqfvqtlekv llgdpgerkq seecpilpps
      601 trspeglsrl kkkllphthv tsgag
//
LOCUS       XP_054217448             671 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 251 isoform X1 [Homo sapiens].
ACCESSION   XP_054217448
VERSION     XP_054217448.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361473.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..671
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..671
                     /product="zinc finger protein 251 isoform X1"
                     /calculated_mol_wt=75633
     CDS             1..671
                     /gene="ZNF251"
                     /coded_by="XM_054361473.1:285..2300"
                     /db_xref="GeneID:90987"
                     /db_xref="HGNC:HGNC:13045"
ORIGIN      
        1 maatfqlpgh qempltfqdv avyfsqaegr qlgpqqraly rdvmlenygn vaslgfpvpk
       61 pelisqleqg kelwvlnllg aeepdilksc qkdsevgtkk elsilnqkfs eevktpefvs
      121 rrllrdnaqa aefreawgre gklkervgns agqslnkpni hkrvlteatv grerslgert
      181 qecsafdrnl nldqnvvrlq rnktgervfk cdicsktfky nsdlsrhqrs htgekpyecg
      241 rcgrafthss nlvlhhhiht gnkpfkcdec gktfglnshl rlhrrihtge kpfgcgecgk
      301 afsrsstliq hriihtgekp ykcnecgrgf sqspqltqhq rihtgekphe cshcgkafsr
      361 sssliqheri htgekphkcn qcgkafsqss slflhhrvht gekpyvcnec grafgfnshl
      421 tehvrihtge kpyvcnecgk afrrsstlvq hrrvhtgekp yqcvecgkaf sqssqltlhq
      481 rvhtgekpyd cgdcgkafsr rstliqhqkv hsgetrkcrk hgpafvhgss ltadgqiptg
      541 ekhgrafnhg anlilrwtvh tgeksfgcne ygkafsptsr ptedqimhag ekpykcqecg
      601 nafsgkstli qhqvthtgqk pchcsvygka fsqssqltpp qqtrvgekpa lndgskryfi
      661 hikkifqerh f
//
LOCUS       XP_054218794             573 aa            linear   PRI 20-MAR-2023
DEFINITION  gelsolin isoform X6 [Homo sapiens].
ACCESSION   XP_054218794
VERSION     XP_054218794.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362819.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..573
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..573
                     /product="gelsolin isoform X6"
                     /calculated_mol_wt=62704
     CDS             1..573
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL"
                     /coded_by="XM_054362819.1:16..1737"
                     /db_xref="GeneID:2934"
                     /db_xref="HGNC:HGNC:4620"
                     /db_xref="MIM:137350"
ORIGIN      
        1 mhvcrlcqps pgqnihqwcg snsnryerlk atqvskgird nersgrarvh vseegtepea
       61 mlqvlgpkpa lpagtedtak edaanrklak lykvsngagt msvslvaden pfaqgalkse
      121 dcfildhgkd gkifvwkgkq anteerkaal ktasdfitkm dypkqtqvsv lpeggetplf
      181 kqffknwrdp dqtdglglsy lsshianver vpfdaatlht stamaaqhgm dddgtgqkqi
      241 wriegsnkvp vdpatygqfy ggdsyiilyn yrhggrqgqi iynwqgaqst qdevaasail
      301 taqldeelgg tpvqsrvvqg kepahlmslf ggkpmiiykg gtsreggqta pastrlfqvr
      361 ansagatrav evlpkagaln sndafvlktp saaylwvgtg aseaektgaq ellrvlraqp
      421 vqvaegsepd gfwealggka ayrtsprlkd kkmdahpprl facsnkigrf vieevpgelm
      481 qedlamddvm lldtwdqvfv wvgkdsqeee ktealtsakr yietdpanrd rrtpitvvkq
      541 gfeppsfvgw flgwdddyws vdpldramae laa
//
LOCUS       XP_054219747             748 aa            linear   PRI 20-MAR-2023
DEFINITION  selenocysteine insertion sequence-binding protein 2 isoform X3
            [Homo sapiens].
ACCESSION   XP_054219747
VERSION     XP_054219747.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363772.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..748
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..748
                     /product="selenocysteine insertion sequence-binding
                     protein 2 isoform X3"
                     /calculated_mol_wt=83746
     CDS             1..748
                     /gene="SECISBP2"
                     /gene_synonym="SBP2; THMA1"
                     /coded_by="XM_054363772.1:386..2632"
                     /db_xref="GeneID:79048"
                     /db_xref="HGNC:HGNC:30972"
                     /db_xref="MIM:607693"
ORIGIN      
        1 mafgastfpp qylsseitlh pyayspytld stqnvysvpg sqylynqpsc yrgfqtvkhr
       61 nentcplpqe mkalfkkkty dekktydqqk fdseradgti sseiksargs hhlsiyaens
      121 lksdgyhkrt drksriiakn vstskpefef ttldfpelqg aennmseiqk qpkwgpvhsv
      181 stdisllrev vkpaavlskg eivvknnpne svtanaatns psctradpkn vsipsseals
      241 sdpsynkekh iihptqkska sqgsdleqne asrknkkkke kstskyevlt vqepprieda
      301 eefpnlavas errdrietpk fqskqqpqdn fknnvkksql pvqldlggml talekkqhsq
      361 hakqsskpvv vsvgavpvls kecasgergr rmsqmktphn pldssaplmk kgkqreipka
      421 kkptslkkii lkerqerkqr lqenavspaf tsddtqdges ggddqfpeqa elsgpegmde
      481 listpsvedk seeppgtelq rdteashlap nhttfpkihs rrfrdycsqm lskevdacvt
      541 dllkelvrfq drmyqkdpvk aktkrrlvlg lrevlkhlkl kklkcviisp ncekiqskgg
      601 lddtlhtiid yaceqnipfv falnrkalgr slnkavpvsv vgifsydgaq dqfhkmvelt
      661 vaarqayktm lenvqqelvg eprpqappsl ptqgpscpae dgppalkeke ephyieiwkk
      721 hleaysgctl eleesleast sqmmnlnl
//
LOCUS       XP_054184134             729 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptotagmin-like protein 5 isoform X4 [Homo sapiens].
ACCESSION   XP_054184134
VERSION     XP_054184134.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328159.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..729
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..729
                     /product="synaptotagmin-like protein 5 isoform X4"
                     /calculated_mol_wt=81335
     CDS             1..729
                     /gene="SYTL5"
                     /gene_synonym="slp5"
                     /coded_by="XM_054328159.1:592..2781"
                     /db_xref="GeneID:94122"
                     /db_xref="HGNC:HGNC:15589"
ORIGIN      
        1 msknsefinl sflldhekem ilgvlkrdey lkkvedkrir klknelleak rrsgktqqea
       61 srvcvhchrn lglifdrgdp cqacslrvcr ecrvagpngs wkctvcdkia qlriitgewf
      121 feekakrfkq vnvlgtdvvr qsilrrspae evqsqeqtrq daeksdtspv agkkashdgp
      181 krkgfllskf rsatrgeiit pktdtgrsys ldldgqhfrs lksppgsdrg stgssdlndq
      241 epgprtpkss rsngvtpgtq sspapstrtv tsvisreygf ensmdlaaie gtsqeltksh
      301 rrntsgtpsi avsgtslssd qsrseldlse sftedsedtv sirsksvpga ldkdsleete
      361 esidalvssq lstnthrlas glsttslnsm msvysetgdy gnvkvsgeil lhisycyktg
      421 glyifvkncr nlaigdekkq rtdayvksyl lpdksrnnkr ktkirtgtnp efnetlkyti
      481 shtqletrtl qlsvwhydrf grnsflgeve ipfdswnfen ptdewfvlqp kvefapdigl
      541 qykgeltvvl ryippeenlm lppeqlqgnk tfkkgkkkes pvisggilev fikeaknlta
      601 vksggtsdsf vkgyllpdds katkhktlvi kksvnpqwnh tfmfsgihpq diknvclelt
      661 iwdkeafssn iflggvrlns gsgvshgknv dwmdsqgeeq rlwqkmannp gtpfegvlml
      721 rssmgkcrl
//
LOCUS       NP_001401876             129 aa            linear   PRI 24-MAR-2023
DEFINITION  uncharacterized LOC128092252 [Homo sapiens].
ACCESSION   NP_001401876
VERSION     NP_001401876.1
DBSOURCE    REFSEQ: accession NM_001414947.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC084756.3.
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..129
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15"
     Protein         1..129
                     /product="uncharacterized LOC128092252"
                     /calculated_mol_wt=14729
     CDS             1..129
                     /gene="LOC128092252"
                     /coded_by="NM_001414947.1:1..390"
                     /db_xref="GeneID:128092252"
ORIGIN      
        1 mkdsasaasa gaelvlrrfp waflvrrpll pppetlpdrw lqaaeeeeve llpfrsppre
       61 envpeildrk hfdqegmciy ytkfqgpsqm psrmsnlsat rqvflwslgq atclfycksc
      121 heilrceig
//
LOCUS       NP_065961               1934 aa            linear   PRI 03-APR-2023
DEFINITION  UPF0606 protein KIAA1549 isoform 1 [Homo sapiens].
ACCESSION   NP_065961 XP_371956 XP_379932 XP_946225
VERSION     NP_065961.2
DBSOURCE    REFSEQ: accession NM_020910.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1934)
  AUTHORS   Uribe ML, Martin-Nieto J, Quereda C, Rubio-Fernandez M, Cruces J,
            Janssen GMC, de Ru AH, van Veelen PA and Hensbergen PJ.
  TITLE     Retinal Proteomics of a Mouse Model of Dystroglycanopathies Reveals
            Molecular Alterations in Photoreceptors
  JOURNAL   J Proteome Res 20 (6), 3268-3277 (2021)
   PUBMED   34027671
REFERENCE   2  (residues 1 to 1934)
  AUTHORS   Sun M, Wang L, Lu D, Zhao Z, Teng L, Wang W and Piao Y.
  TITLE     Concomitant KIAA1549-BRAF fusion and IDH mutation in Pediatric
            spinal cord astrocytoma: a case report and literature review
  JOURNAL   Brain Tumor Pathol 38 (2), 132-137 (2021)
   PUBMED   33641074
  REMARK    GeneRIF: Concomitant KIAA1549-BRAF fusion and IDH mutation in
            Pediatric spinal cord astrocytoma: a case report and literature
            review.
            Review article
REFERENCE   3  (residues 1 to 1934)
  AUTHORS   Chen R, Keoni C, Waker CA, Lober RM, Chen YH and Gutmann DH.
  TITLE     KIAA1549-BRAF Expression Establishes a Permissive Tumor
            Microenvironment Through NFkappaB-Mediated CCL2 Production
  JOURNAL   Neoplasia 21 (1), 52-60 (2019)
   PUBMED   30504064
  REMARK    GeneRIF: these results demonstrate that f-BRAF expression creates a
            supportive tumor microenvironment through NFkappaB-mediated Ccl2
            production and microglia recruitment.
            Erratum:[Neoplasia. 2020 Mar;22(3):e1. PMID: 32098655]
REFERENCE   4  (residues 1 to 1934)
  AUTHORS   de Bruijn SE, Verbakel SK, de Vrieze E, Kremer H, Cremers FPM,
            Hoyng CB, van den Born LI and Roosing S.
  TITLE     Homozygous variants in KIAA1549, encoding a ciliary protein, are
            associated with autosomal recessive retinitis pigmentosa
  JOURNAL   J Med Genet 55 (10), 705-712 (2018)
   PUBMED   30120214
REFERENCE   5  (residues 1 to 1934)
  AUTHORS   Badiali M, Gleize V, Paris S, Moi L, Elhouadani S, Arcella A,
            Morace R, Antonelli M, Buttarelli FR, Figarella-Branger D, Kim YH,
            Ohgaki H, Mokhtari K, Sanson M and Giangaspero F.
  TITLE     KIAA1549-BRAF fusions and IDH mutations can coexist in diffuse
            gliomas of adults
  JOURNAL   Brain Pathol 22 (6), 841-847 (2012)
   PUBMED   22591444
  REMARK    GeneRIF: Our results suggest that in a small fraction of diffuse
            gliomas, KIAA1549-BRAF fusion gene and BRAF(v600E) mutation may be
            responsible for deregulation of the Ras-RAF-ERK signaling pathway
REFERENCE   6  (residues 1 to 1934)
  AUTHORS   Lin A, Rodriguez FJ, Karajannis MA, Williams SC, Legault G, Zagzag
            D, Burger PC, Allen JC, Eberhart CG and Bar EE.
  TITLE     BRAF alterations in primary glial and glioneuronal neoplasms of the
            central nervous system with identification of 2 novel KIAA1549:BRAF
            fusion variants
  JOURNAL   J Neuropathol Exp Neurol 71 (1), 66-72 (2012)
   PUBMED   22157620
  REMARK    GeneRIF: KIAA1549:BRAF fusions predominate in pilocytic
            astrocytomas but are also present in some low-grade unclassifiable
            gliomas and glioneuronal tumors.
REFERENCE   7  (residues 1 to 1934)
  AUTHORS   Hasselblatt M, Riesmeier B, Lechtape B, Brentrup A, Stummer W,
            Albert FK, Sepehrnia A, Ebel H, Gerss J and Paulus W.
  TITLE     BRAF-KIAA1549 fusion transcripts are less frequent in pilocytic
            astrocytomas diagnosed in adults
  JOURNAL   Neuropathol Appl Neurobiol 37 (7), 803-806 (2011)
   PUBMED   21696415
  REMARK    GeneRIF: The frequency of BRAF-KIAA1549 fusion transcripts is
            significantly lower in adult patients with pilocytic astrocytoma.
REFERENCE   8  (residues 1 to 1934)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   9  (residues 1 to 1934)
  AUTHORS   Jones DT, Kocialkowski S, Liu L, Pearson DM, Backlund LM, Ichimura
            K and Collins VP.
  TITLE     Tandem duplication producing a novel oncogenic BRAF fusion gene
            defines the majority of pilocytic astrocytomas
  JOURNAL   Cancer Res 68 (21), 8673-8677 (2008)
   PUBMED   18974108
REFERENCE   10 (residues 1 to 1934)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC083868.3, AM989468.1 and AC018663.3.
            On Sep 9, 2009 this sequence version replaced NP_065961.1.
            
            Summary: The protein encoded by this gene belongs to the UPF0606
            family. This gene has been found to be fused to the BRAF oncogene
            in many cases of pilocytic astrocytoma. The fusion results from 2Mb
            tandem duplications at 7q34. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Oct 2012].
            
            Transcript Variant: This variant (1), also known as the long-form,
            v1, uses an alternate in-frame splice site in the 3' coding region,
            compared to variant 2. The resulting isoform (1) lacks an internal
            segment near the C-terminus, compared to isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1934
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     Protein         1..1934
                     /product="UPF0606 protein KIAA1549 isoform 1"
                     /calculated_mol_wt=208781
     Region          1..37
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCM3.4)"
     Region          378..402
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCM3.4)"
     Region          875..919
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCM3.4)"
     Site            998..1018
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCM3.4)"
     Region          1037..1702
                     /region_name="DUF3827"
                     /note="Domain of unknown function (DUF3827); pfam12877"
                     /db_xref="CDD:432847"
     Site            1299..1319
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCM3.4)"
     Region          1373..1463
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCM3.4)"
     Site            1388
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FD9; propagated from
                     UniProtKB/Swiss-Prot (Q9HCM3.4)"
     Site            1395
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q9HCM3.4)"
     Site            1554
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FD9; propagated from
                     UniProtKB/Swiss-Prot (Q9HCM3.4)"
     Site            1555
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FD9; propagated from
                     UniProtKB/Swiss-Prot (Q9HCM3.4)"
     Site            1622
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q68FD9; propagated from
                     UniProtKB/Swiss-Prot (Q9HCM3.4)"
     Site            1624
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FD9; propagated from
                     UniProtKB/Swiss-Prot (Q9HCM3.4)"
     Region          <1643..1793
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     Site            1643..1644
                     /site_type="other"
                     /note="Breakpoint for translocation to form KIAA1549-BRAF
                     fusion protein; propagated from UniProtKB/Swiss-Prot
                     (Q9HCM3.4)"
     Region          1702..1740
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCM3.4)"
     Site            1749..1750
                     /site_type="other"
                     /note="Breakpoint for translocation to form KIAA1549-BRAF
                     fusion protein; propagated from UniProtKB/Swiss-Prot
                     (Q9HCM3.4)"
     CDS             1..1934
                     /gene="KIAA1549"
                     /gene_synonym="RP86"
                     /coded_by="NM_020910.3:121..5925"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS47723.2"
                     /db_xref="GeneID:57670"
                     /db_xref="HGNC:HGNC:22219"
                     /db_xref="MIM:613344"
ORIGIN      
        1 mpgarrrrrg aamegkprag valapgpsgr rpsarcarrr rpglllpglw llllarpasc
       61 apdelspeqh nlslysmelv lkkstghsaa qvaltetapg sqhssplhvt appsattfdt
      121 affnqgkqtk stadpsifva tyvsvtskev avnddemdnf lpdthwttpr mvspiqyitv
      181 sppglpreal epmltpslpm vslqdeevts gwqnttrqpa ayaesashfh tfrsafrtse
      241 givptpgrnl vlyptdaysh lssrtlpeiv asltegvett lflssrslmp qplgdgitip
      301 lpslgevsqp peevwatsad rytdvttvls qsleetispr typtvtasha alafsrthsp
      361 llstplafas sasptdvssn pflpsdsskt selhsnsalp gpvdnthils pvssfrpytw
      421 caactvpspq qvlatslmek dvgsgdgaet lcmtvleess islmssvvad fsefeedpqv
      481 fntlfpsrpi vplssrsmei setsvgisae vdmssvtttq vppahgrlsv pasldptags
      541 lsvaetqvtp ssvttaffsv itsilldssf sviankntps lavrdpsvft pyslvpsves
      601 slfsdqerss fsehkprgal dfassffstp plelsgsiss pseapaslsl mpsdlspfts
      661 qsfsplvetf tlfdssdlqs sqlslpsstn lefsqlqpss elplntimll psrsevspws
      721 sfpsdslefv eastvsltds eahftsafie ttsylessli shesavtalv ppgsesfdil
      781 tagiqatspl ttvhttpilt esslfstltp pddqisaldg hvsvlasfsk aiptgtvlit
      841 daylpsgssf vseatpfplp teltvvgpsl tptevplnts tevsttstga atggpldstl
      901 mgdaasqspp essaapplps lrpvtaftle atvdtptlat akppyvcdit vpdaylittv
      961 larravqeyi itaikevlri hfnravelkv yelftdftfl vtsgpfvyta isvinvlins
     1021 klvrdqtpli lsvkpsflvp esrfqvqtvl qfvppsvdtg fcnftqriek glmtalfevr
     1081 khhqgtynlt vqilnitiss srvtprrgpv niifavkstq gflngsevse llrnlsvvef
     1141 sfylgypvlq iaepfqypql nlsqllkssw vrtvllgvme kqlqnevfqa emerklaqll
     1201 sevstrrrmw rratvaagns vvqvvnvsrl egddnpvqli yfvedqdger lsavkssdli
     1261 nkmdlqraai ilgyriqgvi aqpvdrvkrp spesqsnnlw vivgvvipvl vvmvivvily
     1321 wklcrtdkld fqpdtvaniq qrqklqipsv kgfdfakqhl gqhnkddili ihepaplpgp
     1381 lkdhttpsen gdvpspkski psknvrhrgr vspsdadstv seesserdag dktpgavndg
     1441 rshrapqsgp plpssgneqh ssasifehvd risrppeasr rvpskiqlia mqpipappvq
     1501 rpspadrvae snkinkeiqt alrhkseieh hrnkirlrak rrghyefpvv ddlssgdtke
     1561 rhrvyrraqm qidkildpta svpsvfiepr kssrikrspk prrkhqvngc padaekdrli
     1621 ttdsdgtyrr ppgvhnsayi gcpsdpdlpa dvqtpssvel grypalpfpa sqyippqpsi
     1681 eearqtmhsl lddafalvap ssqpastagv gpgvppglpa nstpsqeerr atqwgsfysp
     1741 aqtannpcsr yedygmtppt gplprpgfgp gllqstelvp pdpqqpqasa eapfaargiy
     1801 seempsvarp rpvggttgsq iqhltqvgia srigaqpvei ppsrgsqygg pgwpsygede
     1861 agrreavprt sgrepsapsg nlphrglqgp glgyptsste dlqpghssas likaireell
     1921 rlsqkqstvq nfhs
//
LOCUS       NP_000612                471 aa            linear   PRI 03-APR-2023
DEFINITION  5-hydroxytryptamine receptor 2A isoform 1 [Homo sapiens].
ACCESSION   NP_000612
VERSION     NP_000612.1
DBSOURCE    REFSEQ: accession NM_000621.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 471)
  AUTHORS   Saha S and Gonzalez-Maeso J.
  TITLE     The crosstalk between 5-HT2AR and mGluR2 in schizophrenia
  JOURNAL   Neuropharmacology 230, 109489 (2023)
   PUBMED   36889432
  REMARK    GeneRIF: The crosstalk between 5-HT2AR and mGluR2 in schizophrenia.
            Review article
REFERENCE   2  (residues 1 to 471)
  AUTHORS   Massoud S, Salmanian M, Tabibian M, Ghamari R, Tavabe Ghavami TS
            and Alizadeh F.
  TITLE     The contribution of the 5-hydroxytryptamine receptor 2 A gene
            polymorphisms rs6311 and rs6313 to Schizophrenia in Iran
  JOURNAL   Mol Biol Rep 50 (3), 2633-2639 (2023)
   PUBMED   36639522
  REMARK    GeneRIF: The contribution of the 5-hydroxytryptamine receptor 2 A
            gene polymorphisms rs6311 and rs6313 to Schizophrenia in Iran.
REFERENCE   3  (residues 1 to 471)
  AUTHORS   Nikolic J, Vukojevic K, Soljic V, Miskovic J, Orlovic Vlaho M,
            Saraga-Babic M and Filipovic N.
  TITLE     Expression Patterns of Serotonin Receptors 5-HT1A, 5-HT2A, and
            5-HT3A during Human Fetal Lung Development
  JOURNAL   Int J Mol Sci 24 (3), 2965 (2023)
   PUBMED   36769290
  REMARK    GeneRIF: Expression Patterns of Serotonin Receptors 5-HT1A, 5-HT2A,
            and 5-HT3A during Human Fetal Lung Development.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 471)
  AUTHORS   Zhao J, Xu L, Chang C, Jiang P, Wei K, Shi Y, Xu L, Zheng Y, Shan
            Y, Bian Y, Li L, Guo S, Schrodi SJ, Wang R and He D.
  TITLE     Circulating methylation level of HTR2A is associated with
            inflammation and disease activity in rheumatoid arthritis
  JOURNAL   Front Immunol 13, 1054451 (2022)
   PUBMED   36561742
  REMARK    GeneRIF: Circulating methylation level of HTR2A is associated with
            inflammation and disease activity in rheumatoid arthritis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 471)
  AUTHORS   Sofronov AG, Dobrovolskaya AE, Morozova AY, Gorina EA, Kolchev SA
            and Gvozdetckii AN.
  TITLE     [Association of gene polymorphisms DRD3 rs6280, COMT rs4680 and
            HTR2A rs7322347 with schizophrenia]
  JOURNAL   Zh Nevrol Psikhiatr Im S S Korsakova 122 (7), 115-120 (2022)
   PUBMED   35904302
  REMARK    GeneRIF: [Association of gene polymorphisms DRD3 rs6280, COMT
            rs4680 and HTR2A rs7322347 with schizophrenia].', trans
            'Assotsiatsiya geneticheskikh polimorfizmov rs6280 gena DRD3,
            rs4680 gena COMT, rs7322347 gena HTR2A s shizofreniei.
REFERENCE   6  (residues 1 to 471)
  AUTHORS   Stam NJ, Van Huizen F, Van Alebeek C, Brands J, Dijkema R, Tonnaer
            JA and Olijve W.
  TITLE     Genomic organization, coding sequence and functional expression of
            human 5-HT2 and 5-HT1A receptor genes
  JOURNAL   Eur J Pharmacol 227 (2), 153-162 (1992)
   PUBMED   1330647
REFERENCE   7  (residues 1 to 471)
  AUTHORS   Chen K, Yang W, Grimsby J and Shih JC.
  TITLE     The human 5-HT2 receptor is encoded by a multiple intron-exon gene
  JOURNAL   Brain Res Mol Brain Res 14 (1-2), 20-26 (1992)
   PUBMED   1323014
REFERENCE   8  (residues 1 to 471)
  AUTHORS   Saltzman AG, Morse B, Whitman MM, Ivanshchenko Y, Jaye M and Felder
            S.
  TITLE     Cloning of the human serotonin 5-HT2 and 5-HT1C receptor subtypes
  JOURNAL   Biochem Biophys Res Commun 181 (3), 1469-1478 (1991)
   PUBMED   1722404
REFERENCE   9  (residues 1 to 471)
  AUTHORS   Sparkes RS, Lan N, Klisak I, Mohandas T, Diep A, Kojis T, Heinzmann
            C and Shih JC.
  TITLE     Assignment of a serotonin 5HT-2 receptor gene (HTR2) to human
            chromosome 13q14-q21 and mouse chromosome 14
  JOURNAL   Genomics 9 (3), 461-465 (1991)
   PUBMED   2032718
REFERENCE   10 (residues 1 to 471)
  AUTHORS   Hsieh CL, Bowcock AM, Farrer LA, Hebert JM, Huang KN,
            Cavalli-Sforza LL, Julius D and Francke U.
  TITLE     The serotonin receptor subtype 2 locus HTR2 is on human chromosome
            13 near genes for esterase D and retinoblastoma-1 and on mouse
            chromosome 14
  JOURNAL   Somat Cell Mol Genet 16 (6), 567-574 (1990)
   PUBMED   1980030
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL160397.17 and AL136958.9.
            
            Summary: This gene encodes one of the receptors for serotonin, a
            neurotransmitter with many roles. Mutations in this gene are
            associated with susceptibility to schizophrenia and
            obsessive-compulsive disorder, and are also associated with
            response to the antidepressant citalopram in patients with major
            depressive disorder (MDD). MDD patients who also have a mutation in
            intron 2 of this gene show a significantly reduced response to
            citalopram as this antidepressant downregulates expression of this
            gene. Multiple transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Sep 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK314132.1, SRR14372080.1096257.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000542664.4/ ENSP00000437737.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.2"
     Protein         1..471
                     /product="5-hydroxytryptamine receptor 2A isoform 1"
                     /note="serotonin 5-HT-2A receptor; 5-HT2 receptor;
                     5-hydroxytryptamine (serotonin) receptor 2A, G
                     protein-coupled"
                     /calculated_mol_wt=52472
     Site            8
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P28223.2)"
     Site            38
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P28223.2)"
     Site            44
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P28223.2)"
     Site            51
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P28223.2)"
     Site            54
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P28223.2)"
     Region          75..391
                     /region_name="7tmA_5-HT2A"
                     /note="serotonin receptor subtype 2A, member of the class
                     A family of seven-transmembrane G protein-coupled
                     receptors; cd15304"
                     /db_xref="CDD:341345"
     Region          76..102
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:341345"
     Site            76..99
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2)"
     Region          109..135
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:341345"
     Site            111..132
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2)"
     Region          148..178
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:341345"
     Site            149..171
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2)"
     Site            order(152,155..156,159..160,227,234..235,238,242,336,
                     339..340,343,346,359,362..363,366,370)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:341345"
     Region          172..174
                     /region_name="DRY motif, important for ligand-induced
                     conformation changes.
                     /evidence=ECO:0000250|UniProtKB:P41595"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2)"
     Region          190..213
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:341345"
     Site            192..215
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2)"
     Site            229
                     /site_type="other"
                     /note="Hydrophobic barrier that decreases the speed of
                     ligand binding and dissociation.
                     /evidence=ECO:0000269|PubMed:28129538; propagated from
                     UniProtKB/Swiss-Prot (P28223.2)"
     Region          231..260
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:341345"
     Site            234..254
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2)"
     Site            280
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:24637012; propagated from
                     UniProtKB/Swiss-Prot (P28223.2)"
     Region          316..346
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:341345"
     Site            325..346
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2)"
     Region          359..384
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:341345"
     Site            363..384
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2)"
     Region          376..380
                     /region_name="NPxxY motif, important for ligand-induced
                     conformation changes and signaling.
                     /evidence=ECO:0000250|UniProtKB:P41595"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2)"
     Region          450..471
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2)"
     Region          469..471
                     /region_name="PDZ-binding.
                     /evidence=ECO:0000269|PubMed:11150294,
                     ECO:0000269|PubMed:14988405"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2)"
     CDS             1..471
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /coded_by="NM_000621.5:709..2124"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9405.1"
                     /db_xref="GeneID:3356"
                     /db_xref="HGNC:HGNC:5293"
                     /db_xref="MIM:182135"
ORIGIN      
        1 mdilceents lssttnslmq lnddtrlysn dfnsgeants dafnwtvdse nrtnlscegc
       61 lspsclsllh lqeknwsall tavviiltia gnilvimavs lekklqnatn yflmslaiad
      121 mllgflvmpv smltilygyr wplpsklcav wiyldvlfst asimhlcais ldryvaiqnp
      181 ihhsrfnsrt kaflkiiavw tisvgismpi pvfglqddsk vfkegsclla ddnfvligsf
      241 vsffipltim vityfltiks lqkeatlcvs dlgtraklas fsflpqssls seklfqrsih
      301 repgsytgrr tmqsisneqk ackvlgivff lfvvmwcpff itnimavick escnedviga
      361 llnvfvwigy lssavnplvy tlfnktyrsa fsryiqcqyk enkkplqlil vntipalayk
      421 ssqlqmgqkk nskqdakttd ndcsmvalgk qhseeaskdn sdgvnekvsc v
//
LOCUS       NP_001129603             660 aa            linear   PRI 03-APR-2023
DEFINITION  amyloid-beta precursor protein isoform g [Homo sapiens].
ACCESSION   NP_001129603
VERSION     NP_001129603.1
DBSOURCE    REFSEQ: accession NM_001136131.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 660)
  AUTHORS   Li R, Song J, Zhao A, Diao X, Zhang T, Qi X, Guan Z, An Y, Ren L,
            Wang C and He Y.
  TITLE     Association of APP gene polymorphisms and promoter methylation with
            essential hypertension in Guizhou: a case-control study
  JOURNAL   Hum Genomics 17 (1), 25 (2023)
   PUBMED   36941702
  REMARK    GeneRIF: Association of APP gene polymorphisms and promoter
            methylation with essential hypertension in Guizhou: a case-control
            study.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 660)
  AUTHORS   Cencelli G, Pacini L, De Luca A, Messia I, Gentile A, Kang Y,
            Nobile V, Tabolacci E, Jin P, Farace MG and Bagni C.
  TITLE     Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from
            Fragile X Individuals
  JOURNAL   Cells 12 (5), 758 (2023)
   PUBMED   36899894
  REMARK    GeneRIF: Age-Dependent Dysregulation of APP in Neuronal and Skin
            Cells from Fragile X Individuals.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 660)
  AUTHORS   Urdanoz-Casado A, Sanchez-Ruiz de Gordoa J, Robles M, Roldan M,
            Macias Conde M, Acha B, Blanco-Luquin I and Mendioroz M.
  TITLE     circRNA from APP Gene Changes in Alzheimer's Disease Human Brain
  JOURNAL   Int J Mol Sci 24 (5), 4308 (2023)
   PUBMED   36901741
  REMARK    GeneRIF: circRNA from APP Gene Changes in Alzheimer's Disease Human
            Brain.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 660)
  AUTHORS   Paschou M, Liaropoulou D, Kalaitzaki V, Efthimiopoulos S and
            Papazafiri P.
  TITLE     Knockdown of Amyloid Precursor Protein Increases Ion Channel
            Expression and Alters Ca2+ Signaling Pathways
  JOURNAL   Int J Mol Sci 24 (3), 2302 (2023)
   PUBMED   36768625
  REMARK    GeneRIF: Knockdown of Amyloid Precursor Protein Increases Ion
            Channel Expression and Alters Ca[2+] Signaling Pathways.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 660)
  AUTHORS   Soscia SJ, Kirby JE, Washicosky KJ, Tucker SM, Ingelsson M, Hyman
            B, Burton MA, Goldstein LE, Duong S, Tanzi RE and Moir RD.
  TITLE     The Alzheimer's disease-associated amyloid beta-protein is an
            antimicrobial peptide
  JOURNAL   PLoS One 5 (3), e9505 (2010)
   PUBMED   20209079
  REMARK    GeneRIF: Alzheimer's disease-associated amyloid beta-protein
            peptides display antimicrobial activity against C. albicans, E.
            coli, S. epidermidis, S. pneumoniae, S. aureus, L. monocytogenes,
            E. faecalis, and S. agalactiae.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 660)
  AUTHORS   Bird,T.D.
  TITLE     Early-Onset Familial Alzheimer Disease - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301414
REFERENCE   7  (residues 1 to 660)
  AUTHORS   Bird,T.D.
  TITLE     Alzheimer Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301340
REFERENCE   8  (residues 1 to 660)
  AUTHORS   Mant,R., Asherson,P., Gill,M., McGuffin,P., Owen,M., Wert,S.E.,
            Gregory,R.J., Smith,A.E., Cohn,J.A., Wilson,J.M. et al.
  TITLE     Schizophrenia scepticism
  JOURNAL   Nat Genet 2 (1), 12 (1992)
   PUBMED   1303244
REFERENCE   9  (residues 1 to 660)
  AUTHORS   Mullan M, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B and
            Lannfelt L.
  TITLE     A pathogenic mutation for probable Alzheimer's disease in the APP
            gene at the N-terminus of beta-amyloid
  JOURNAL   Nat Genet 1 (5), 345-347 (1992)
   PUBMED   1302033
REFERENCE   10 (residues 1 to 660)
  AUTHORS   Hendriks L, van Duijn CM, Cras P, Cruts M, Van Hul W, van Harskamp
            F, Warren A, McInnis MG, Antonarakis SE, Martin JJ et al.
  TITLE     Presenile dementia and cerebral haemorrhage linked to a mutation at
            codon 692 of the beta-amyloid precursor protein gene
  JOURNAL   Nat Genet 1 (3), 218-221 (1992)
   PUBMED   1303239
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK296229.1, Y00264.1 and
            BM876312.1.
            
            Summary: This gene encodes a cell surface receptor and
            transmembrane precursor protein that is cleaved by secretases to
            form a number of peptides. Some of these peptides are secreted and
            can bind to the acetyltransferase complex APBB1/TIP60 to promote
            transcriptional activation, while others form the protein basis of
            the amyloid plaques found in the brains of patients with Alzheimer
            disease. In addition, two of the peptides are antimicrobial
            peptides, having been shown to have bacteriocidal and antifungal
            activities. Mutations in this gene have been implicated in
            autosomal dominant Alzheimer disease and cerebroarterial
            amyloidosis (cerebral amyloid angiopathy). Multiple transcript
            variants encoding several different isoforms have been found for
            this gene. [provided by RefSeq, Aug 2014].
            
            Transcript Variant: This variant (7) differs in the 5' UTR and
            coding sequence and lacks two alternate in-frame exons compared to
            variant 1. The resulting isoform (g) is shorter at the N-terminus
            and lacks an internal segment compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296229.1, SRR18074967.4055543.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            Protein has antimicrobial activity :: PMID: 20209079
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..660
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q21.3"
     Protein         1..660
                     /product="amyloid-beta precursor protein isoform g"
                     /note="peptidase nexin-II; cerebral vascular amyloid
                     peptide; protease nexin-II; amyloid beta A4 protein;
                     beta-amyloid peptide; alzheimer disease amyloid protein;
                     beta-amyloid peptide(1-40); beta-amyloid peptide(1-42);
                     amyloid precursor protein; beta-amyloid precursor protein;
                     testicular tissue protein Li 2; amyloid beta (A4)
                     precursor protein; alzheimer disease amyloid A4 protein
                     homolog"
                     /calculated_mol_wt=74979
     Region          1..153
                     /region_name="A4_EXTRA"
                     /note="amyloid A4; smart00006"
                     /db_xref="CDD:128326"
     Region          256..438
                     /region_name="APP_E2"
                     /note="E2 domain of amyloid precursor protein; pfam12925"
                     /db_xref="CDD:432878"
     mat_peptide     562..603
                     /product="amyloid-beta precursor protein isoform g"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     20209079]"
                     /exception="alternative processing"
                     /calculated_mol_wt=4514
     mat_peptide     562..601
                     /product="amyloid-beta precursor protein isoform g"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     20209079]"
                     /calculated_mol_wt=4330
     Region          583..657
                     /region_name="JMTM_Notch_APP"
                     /note="juxtamembrane and transmembrane (JMTM) domain found
                     in Notch and APP family proteins; cl41775"
                     /db_xref="CDD:425406"
     Site            order(596..597,599..600,602..608,610..615)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:411983"
     CDS             1..660
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /coded_by="NM_001136131.3:193..2175"
                     /note="isoform g is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS56211.1"
                     /db_xref="GeneID:351"
                     /db_xref="HGNC:HGNC:620"
                     /db_xref="MIM:104760"
ORIGIN      
        1 mfcgrlnmhm nvqngkwdsd psgtktcidt kegilqycqe vypelqitnv veanqpvtiq
       61 nwckrgrkqc kthphfvipy rclvgefvsd allvpdkckf lhqermdvce thlhwhtvak
      121 etcsekstnl hdygmllpcg idkfrgvefv ccplaeesdn vdsadaeedd sdvwwggadt
      181 dyadgsedkv vevaeeeeva eveeeeaddd eddedgdeve eeaeepyeea terttsiatt
      241 tttttesvee vvrvpttaas tpdavdkyle tpgdenehah fqkakerlea khrermsqvm
      301 reweeaerqa knlpkadkka viqhfqekve sleqeaaner qqlvethmar veamlndrrr
      361 lalenyital qavpprprhv fnmlkkyvra eqkdrqhtlk hfehvrmvdp kkaaqirsqv
      421 mthlrviyer mnqslsllyn vpavaeeiqd evdellqkeq nysddvlanm iseprisygn
      481 dalmpsltet kttvellpvn gefslddlqp whsfgadsvp antenevepv darpaadrgl
      541 ttrpgsgltn ikteeisevk mdaefrhdsg yevhhqklvf faedvgsnkg aiiglmvggv
      601 viatvivitl vmlkkkqyts ihhgvvevda avtpeerhls kmqqngyenp tykffeqmqn
//
LOCUS       NP_001121143            1097 aa            linear   PRI 10-APR-2023
DEFINITION  leukemia inhibitory factor receptor isoform a precursor [Homo
            sapiens].
ACCESSION   NP_001121143
VERSION     NP_001121143.1
DBSOURCE    REFSEQ: accession NM_001127671.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1097)
  AUTHORS   Wang J, Lai X and Peng X.
  TITLE     CircLIFR Inhibits Non-small Cell Lung Cancer Progression by Acting
            as a miR-429 Sponge to Enhance CELF2 Expression
  JOURNAL   Biochem Genet 61 (2), 725-741 (2023)
   PUBMED   36104590
  REMARK    GeneRIF: CircLIFR Inhibits Non-small Cell Lung Cancer Progression
            by Acting as a miR-429 Sponge to Enhance CELF2 Expression.
REFERENCE   2  (residues 1 to 1097)
  AUTHORS   Bartik ZI, Sillen U, Djos A, Lindholm A and Fransson S.
  TITLE     Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations
            in familial vesicoureteral reflux
  JOURNAL   PLoS One 17 (11), e0277524 (2022)
   PUBMED   36417404
  REMARK    GeneRIF: Whole exome sequencing identifies KIF26B, LIFR and LAMC1
            mutations in familial vesicoureteral reflux.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1097)
  AUTHORS   Halder S, Parte S, Kshirsagar P, Muniyan S, Nair HB, Batra SK and
            Seshacharyulu P.
  TITLE     The Pleiotropic role, functions and targeted therapies of LIF/LIFR
            axis in cancer: Old spectacles with new insights
  JOURNAL   Biochim Biophys Acta Rev Cancer 1877 (4), 188737 (2022)
   PUBMED   35680099
  REMARK    GeneRIF: The Pleiotropic role, functions and targeted therapies of
            LIF/LIFR axis in cancer: Old spectacles with new insights.
            Review article
REFERENCE   4  (residues 1 to 1097)
  AUTHORS   Yao F, Deng Y, Zhao Y, Mei Y, Zhang Y, Liu X, Martinez C, Su X,
            Rosato RR, Teng H, Hang Q, Yap S, Chen D, Wang Y, Chen MM, Zhang M,
            Liang H, Xie D, Chen X, Zhu H, Chang JC, You MJ, Sun Y, Gan B and
            Ma L.
  TITLE     A targetable LIFR-NF-kappaB-LCN2 axis controls liver tumorigenesis
            and vulnerability to ferroptosis
  JOURNAL   Nat Commun 12 (1), 7333 (2021)
   PUBMED   34921145
  REMARK    GeneRIF: A targetable LIFR-NF-kappaB-LCN2 axis controls liver
            tumorigenesis and vulnerability to ferroptosis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1097)
  AUTHORS   Valstar MH, Mast H, Ten Hove I, Moonen LR, Balm AJ, Smeele LE,
            Koljenovic S, Dinjens WN and van Velthuysen MF.
  TITLE     Malignant transformation of salivary gland pleomorphic adenoma:
            proof of principle
  JOURNAL   J Pathol Clin Res 7 (5), 432-437 (2021)
   PUBMED   34390320
  REMARK    GeneRIF: Malignant transformation of salivary gland pleomorphic
            adenoma: proof of principle.
REFERENCE   6  (residues 1 to 1097)
  AUTHORS   Schiemann WP, Graves LM, Baumann H, Morella KK, Gearing DP, Nielsen
            MD, Krebs EG and Nathanson NM.
  TITLE     Phosphorylation of the human leukemia inhibitory factor (LIF)
            receptor by mitogen-activated protein kinase and the regulation of
            LIF receptor function by heterologous receptor activation
  JOURNAL   Proc Natl Acad Sci U S A 92 (12), 5361-5365 (1995)
   PUBMED   7777512
REFERENCE   7  (residues 1 to 1097)
  AUTHORS   Gearing DP, Druck T, Huebner K, Overhauser J, Gilbert DJ, Copeland
            NG and Jenkins NA.
  TITLE     The leukemia inhibitory factor receptor (LIFR) gene is located
            within a cluster of cytokine receptor loci on mouse chromosome 15
            and human chromosome 5p12-p13
  JOURNAL   Genomics 18 (1), 148-150 (1993)
   PUBMED   8276403
REFERENCE   8  (residues 1 to 1097)
  AUTHORS   Gearing DP, Comeau MR, Friend DJ, Gimpel SD, Thut CJ, McGourty J,
            Brasher KK, King JA, Gillis S, Mosley B et al.
  TITLE     The IL-6 signal transducer, gp130: an oncostatin M receptor and
            affinity converter for the LIF receptor
  JOURNAL   Science 255 (5050), 1434-1437 (1992)
   PUBMED   1542794
REFERENCE   9  (residues 1 to 1097)
  AUTHORS   Gearing DP and Bruce AG.
  TITLE     Oncostatin M binds the high-affinity leukemia inhibitory factor
            receptor
  JOURNAL   New Biol 4 (1), 61-65 (1992)
   PUBMED   1536831
REFERENCE   10 (residues 1 to 1097)
  AUTHORS   Gearing DP, Thut CJ, VandeBos T, Gimpel SD, Delaney PB, King J,
            Price V, Cosman D and Beckmann MP.
  TITLE     Leukemia inhibitory factor receptor is structurally related to the
            IL-6 signal transducer, gp130
  JOURNAL   EMBO J 10 (10), 2839-2848 (1991)
   PUBMED   1915266
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290059.1, BP219669.1 and
            AC010457.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a protein that belongs to the type I
            cytokine receptor family. This protein combines with a
            high-affinity converter subunit, gp130, to form a receptor complex
            that mediates the action of the leukemia inhibitory factor, a
            polyfunctional cytokine that is involved in cellular
            differentiation, proliferation and survival in the adult and the
            embryo. Mutations in this gene cause Schwartz-Jampel syndrome type
            2, a disease belonging to the group of the bent-bone dysplasias. A
            translocation that involves the promoter of this gene,
            t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated
            with salivary gland pleiomorphic adenoma, a common type of benign
            epithelial tumor of the salivary gland. Multiple splice variants
            encoding two different isoforms have been found for this gene.
            [provided by RefSeq, Jun 2018].
            
            Transcript Variant: This variant (1) differs in the 5' UTR compared
            to variant 3. Variants 1, 2, and 3 all encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK290059.1, SRR14038194.1176263.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000453190.7/ ENSP00000398368.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1097
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.1"
     Protein         1..1097
                     /product="leukemia inhibitory factor receptor isoform a
                     precursor"
                     /note="CD118 antigen; leukemia inhibitory factor receptor
                     alpha; LIF receptor alpha"
                     /calculated_mol_wt=118402
     sig_peptide     1..44
                     /calculated_mol_wt=5359
     mat_peptide     45..1097
                     /product="leukemia inhibitory factor receptor isoform a"
                     /calculated_mol_wt=118402
     Region          52..129
                     /region_name="LIFR_N"
                     /note="Leukemia inhibitory factor receptor N-terminal
                     domain; pfam18207"
                     /db_xref="CDD:436347"
     Site            64
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Site            85
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Region          131..244
                     /region_name="LIFR_D2"
                     /note="Leukemia inhibitory factor receptor D2 domain;
                     pfam17971"
                     /db_xref="CDD:375455"
     Site            131
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:18775332; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Site            143
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Site            191
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Site            243
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Site            303
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:18775332; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Site            390
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Site            407
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:18775332; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Site            426
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:18775332; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Region          433..530
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(433,501,518)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            445
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Site            481
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Site            489
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Region          519..523
                     /region_name="WSXWS motif"
                     /note="propagated from UniProtKB/Swiss-Prot (P42702.1)"
     Site            order(519..520,522..523)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          552..619
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cl21522"
                     /db_xref="CDD:451288"
     Site            572
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Site            order(615..616,618..619)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            652
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Site            663
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Site            680
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Region          729..821
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            729
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Site            787
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Site            834..858
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P42702.1)"
     Region          869..877
                     /region_name="Box 1 motif"
                     /note="propagated from UniProtKB/Swiss-Prot (P42702.1)"
     Site            927
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Region          983..1005
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P42702.1)"
     Site            1044
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P42703; propagated from
                     UniProtKB/Swiss-Prot (P42702.1)"
     Region          1066..1097
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P42702.1)"
     CDS             1..1097
                     /gene="LIFR"
                     /gene_synonym="CD118; LIF-R; SJS2; STWS; SWS"
                     /coded_by="NM_001127671.2:333..3626"
                     /note="isoform a precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS3927.1"
                     /db_xref="GeneID:3977"
                     /db_xref="HGNC:HGNC:6597"
                     /db_xref="MIM:151443"
ORIGIN      
        1 mmdiyvclkr pswmvdnkrm rtasnfqwll stfillylmn qvnsqkkgap hdlkcvtnnl
       61 qvwncswkap sgtgrgtdye vcienrsrsc yqlektsiki palshgdyei tinslhdfgs
      121 stskftlneq nvslipdtpe ilnlsadfst stlylkwndr gsvfphrsnv iweikvlrke
      181 smelvklvth nttlngkdtl hhwswasdmp lecaihfvei rcyidnlhfs gleewsdwsp
      241 vkniswipds qtkvfpqdkv ilvgsditfc cvsqekvlsa lightncpli hldgenvaik
      301 irnisvsass gtnvvftted nifgtvifag yppdtpqqln cethdlkeii cswnpgrvta
      361 lvgpratsyt lvesfsgkyv rlkraeaptn esyqllfqml pnqeiynftl nahnplgrsq
      421 stilvnitek vyphtptsfk vkdinstavk lswhlpgnfa kinflceiei kksnsvqeqr
      481 nvtikgvens sylvaldkln pytlytfrir cstetfwkws kwsnkkqhlt teaspskgpd
      541 twrewssdgk nliiywkplp ineangkils ynvscssdee tqslseipdp qhkaeirldk
      601 ndyiisvvak nsvgssppsk iasmeipndd lkieqvvgmg kgilltwhyd pnmtcdyvik
      661 wcnssrsepc lmdwrkvpsn stetviesde frpgirynff lygcrnqgyq llrsmigyie
      721 elapivapnf tvedtsadsi lvkwedipve elrgflrgyl fyfgkgerdt skmrvlesgr
      781 sdikvknitd isqktlriad lqgktsyhlv lraytdggvg peksmyvvtk ensvgliiai
      841 lipvavaviv gvvtsilcyr krewiketfy pdipnpenck alqfqksvce gssalktlem
      901 npctpnnvev letrsafpki edteiispva erpedrsdae penhvvvsyc ppiieeeipn
      961 paadeaggta qviyidvqsm yqpqakpeee qendpvggag ykpqmhlpin stvediaaee
     1021 dldktagyrp qanvntwnlv spdsprsids nseivsfgsp csinsrqfli ppkdedspks
     1081 ngggwsftnf fqnkpnd
//
LOCUS       NP_001334814             187 aa            linear   PRI 17-APR-2022
DEFINITION  protein GVQW3 isoform d [Homo sapiens].
ACCESSION   NP_001334814
VERSION     NP_001334814.1
DBSOURCE    REFSEQ: accession NM_001347885.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 187)
  AUTHORS   Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd
            C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E,
            Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K,
            Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC,
            Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES
            and Sakaki Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP002360.4 and BC040665.1.
            
            Transcript Variant: This variant (5) uses an alternate splice site
            in the 3' coding region, resulting in a frameshift and an early
            stop codon compared to variant 1. The encoded isoform (d) is
            shorter and has a distinct C-terminus compared to isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.234931.1,
                                           SRR5189667.51058.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000529331.2/ ENSP00000489195.1
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..187
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.5"
     Protein         1..187
                     /product="protein GVQW3 isoform d"
                     /note="GVQW motif-containing protein 3; protein GVQW3"
                     /calculated_mol_wt=21537
     Region          9..53
                     /region_name="HTH_48"
                     /note="HTH domain in Mos1 transposase; pfam17906"
                     /db_xref="CDD:436131"
     Region          43..108
                     /region_name="HTH_32"
                     /note="Homeodomain-like domain; pfam13565"
                     /db_xref="CDD:433314"
     CDS             1..187
                     /gene="GVQW3"
                     /coded_by="NM_001347885.2:507..1070"
                     /note="isoform d is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS86231.1"
                     /db_xref="GeneID:100506127"
                     /db_xref="HGNC:HGNC:51239"
ORIGIN      
        1 msdryleqri sikfcvklnk sasethhllk eaygdevmsr arvfdwhkrf kegredvrdd
       61 arsgrpvthr tddniqkvkd lvcsnrqltv rmmaeelnld ketvrlilke nlnmrkisak
      121 visgvlkgep kprkldfrsd lsketrknss clrkkrrnlt mlprlvsnsl sqgilppwpp
      181 kalglsa
//
LOCUS       NP_001356988            1119 aa            linear   PRI 18-DEC-2022
DEFINITION  ubiquitin-associated protein 2 isoform 1 [Homo sapiens].
ACCESSION   NP_001356988
VERSION     NP_001356988.2
DBSOURCE    REFSEQ: accession NM_001370059.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1119)
  AUTHORS   Herlihy AE, Boeing S, Weems JC, Walker J, Dirac-Svejstrup AB,
            Lehner MH, Conaway RC, Conaway JW and Svejstrup JQ.
  TITLE     UBAP2/UBAP2L regulate UV-induced ubiquitylation of RNA polymerase
            II and are the human orthologues of yeast Def1
  JOURNAL   DNA Repair (Amst) 115, 103343 (2022)
   PUBMED   35633597
  REMARK    GeneRIF: UBAP2/UBAP2L regulate UV-induced ubiquitylation of RNA
            polymerase II and are the human orthologues of yeast Def1.
REFERENCE   2  (residues 1 to 1119)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (residues 1 to 1119)
  AUTHORS   Xiong H, Yu J, Jia G, Su Y, Zhang J, Xu Q and Sun X.
  TITLE     Emerging roles of circUBAP2 targeting miR-370-3p in proliferation,
            apoptosis, and invasion of papillary thyroid cancer cells
  JOURNAL   Hum Cell 34 (6), 1866-1877 (2021)
   PUBMED   34346032
  REMARK    GeneRIF: Emerging roles of circUBAP2 targeting miR-370-3p in
            proliferation, apoptosis, and invasion of papillary thyroid cancer
            cells.
REFERENCE   4  (residues 1 to 1119)
  AUTHORS   Wang J, Li T and Wang B.
  TITLE     Circ-UBAP2 functions as sponges of miR-1205 and miR-382 to promote
            glioma progression by modulating STC1 expression
  JOURNAL   Cancer Med 10 (5), 1815-1828 (2021)
   PUBMED   33543830
  REMARK    GeneRIF: Circ-UBAP2 functions as sponges of miR-1205 and miR-382 to
            promote glioma progression by modulating STC1 expression.
REFERENCE   5  (residues 1 to 1119)
  AUTHORS   Xiong X, Rao G, Roy RV, Zhang Y, Means N, Dey A, Tsaliki M, Saha S,
            Bhattacharyya S, Dhar Dwivedi SK, Rao CV, McCormick DJ,
            Dhanasekaran D, Ding K, Gillies E, Zhang M, Yang D, Bhattacharya R
            and Mukherjee P.
  TITLE     Ubiquitin-binding associated protein 2 regulates KRAS activation
            and macropinocytosis in pancreatic cancer
  JOURNAL   FASEB J 34 (9), 12024-12039 (2020)
   PUBMED   32692445
  REMARK    GeneRIF: Ubiquitin-binding associated protein 2 regulates KRAS
            activation and macropinocytosis in pancreatic cancer.
REFERENCE   6  (residues 1 to 1119)
  AUTHORS   Zuo L, Saba L, Wang K, Zhang X, Krystal JH, Tabakoff B and Luo X.
  TITLE     Exome-wide association study of replicable nonsynonymous variants
            conferring risk for alcohol dependence
  JOURNAL   J Stud Alcohol Drugs 74 (4), 622-625 (2013)
   PUBMED   23739027
  REMARK    GeneRIF: By incorporating the information from bioinformatics and
            RNA expression analyses, we identified at least two of the most
            promising risk genes for alcohol dependence: APOER2 and UBAP2
REFERENCE   7  (residues 1 to 1119)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   8  (residues 1 to 1119)
  AUTHORS   Venturelli E, Villa C, Fenoglio C, Clerici F, Marcone A, Benussi L,
            Ghidoni R, Gallone S, Scalabrini D, Cortini F, Fumagalli G, Cappa
            S, Binetti G, Franceschi M, Rainero I, Giordana MT, Mariani C,
            Bresolin N, Scarpini E and Galimberti D.
  TITLE     Is KIF24 a genetic risk factor for Frontotemporal Lobar
            Degeneration?
  JOURNAL   Neurosci Lett 482 (3), 240-244 (2010)
   PUBMED   20670673
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 1119)
  AUTHORS   Dieci G, Preti M and Montanini B.
  TITLE     Eukaryotic snoRNAs: a paradigm for gene expression flexibility
  JOURNAL   Genomics 94 (2), 83-88 (2009)
   PUBMED   19446021
  REMARK    GeneRIF: UBAP2 serves as a host gene for snoRNAs
            Review article
REFERENCE   10 (residues 1 to 1119)
  AUTHORS   Hofmann K and Bucher P.
  TITLE     The UBA domain: a sequence motif present in multiple enzyme classes
            of the ubiquitination pathway
  JOURNAL   Trends Biochem Sci 21 (5), 172-173 (1996)
   PUBMED   8871400
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354989.13 and AL139113.21.
            On Aug 13, 2020 this sequence version replaced NP_001356988.1.
            
            Summary: The protein encoded by this gene contains a UBA (ubiquitin
            associated) domain, which is characteristic of proteins that
            function in the ubiquitination pathway. This gene may show
            increased expression in the adrenal gland and lymphatic tissues.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.791882.1,
                                           SRR11853567.30178.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1119
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     Protein         1..1119
                     /product="ubiquitin-associated protein 2 isoform 1"
                     /note="AD-012 protein; RNA polymerase II degradation
                     factor UBAP2"
                     /calculated_mol_wt=116985
     Region          1..26
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T6F2.1)"
     Region          53..90
                     /region_name="UBA_UBP2_like"
                     /note="UBA domain found in ubiquitin-associated protein 2
                     (UBAP-2) like proteins; cd14277"
                     /db_xref="CDD:270463"
     Region          110..202
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T6F2.1)"
     Site            166
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q5T6F2.1)"
     Region          385..476
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T6F2.1)"
     Site            432
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T6F2.1)"
     Site            439
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T6F2.1)"
     Site            473
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5T6F2.1)"
     Region          512..541
                     /region_name="DUF3697"
                     /note="Ubiquitin-associated protein 2; pfam12478"
                     /db_xref="CDD:372135"
     Region          622..736
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T6F2.1)"
     Site            630
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T6F2.1)"
     Region          853..905
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T6F2.1)"
     Region          937..966
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T6F2.1)"
     Region          982..1020
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T6F2.1)"
     Region          1082..1119
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T6F2.1)"
     CDS             1..1119
                     /gene="UBAP2"
                     /gene_synonym="UBAP-2"
                     /coded_by="NM_001370059.2:93..3452"
                     /note="isoform 1 is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS6547.1"
                     /db_xref="GeneID:55833"
                     /db_xref="HGNC:HGNC:14185"
ORIGIN      
        1 mmtsvssdhc rgarekpqis aaqstqpqkq vvqataeqmr laqvifdknd sdfeakvkql
       61 mevtgknqde civalhdcng dvnkainill egnsdttswe tvgckkknfa kensenkenr
      121 ekksekessr grgnnnrkgr ggnrgrefrg eengidcnqv dkpsdrgkra rgrgfgrgrg
      181 rgagrfstqg mgtfnpadys dststdvcgt klvvweaaqn gadegtelas nthniaqdls
      241 nkssyglkga wknsveewtt edwtedlset kvftassapa enhilpgqsi dlvallqkpv
      301 phsqaseans fetsqqqgfg qalvftnsqh nnqmapgtgs stavnscspq slssvlgsgf
      361 gelappkman itssqildql kapslgqftt tpstqqnsts hpttttswdl kpptsqssvl
      421 shldfksqpe pspvlsqlsq rqqhqsqavt vpppglesfp sqaklrestp gdspstvnkl
      481 lqlpsttien isvsvhqpqp khiklakrri ppaskipasa vempgsadvt glnvqfgale
      541 fgsepslsef gsapssensn qipislysks lseplntsls mtsavqnsty ttsvitscsl
      601 tssslnsasp vamsssydqs svhnripyqs pvsssesapg timnghgggr sqqtldtpkt
      661 tgppsalpsv sslpsttsct allpstsqht gdltssplsq lssslsshqs slsahaalss
      721 stshthasve sasshqssat fstaatsvss sassgaslss smntanslcl ggtpasasss
      781 ssraaplvts gkappnlpqg vppllhnqyl vgpggllpay piygydelqm lqsrlpvdyy
      841 gipfaaptal asrdgslann pypgdvtkfg rgdsaspapa ttpaqpqqsq sqthhtaqqp
      901 fvnpalppgy sytglpyytg mpsafqygpt mfvppasakq hgvnlstptp pfqqasgygq
      961 hgystgyddl tqgtaagdys kggyagssqa pnksagsgpg kgvsvssstt glpdmtgsvy
     1021 nktqtfdkqg fhagtpppfs lpsvlgstgp lasgaapgya pppflhilpa hqqphsqllh
     1081 hhlpqdaqsg sgqrsqpssl qpksqaskpa ygnspywtn
//
LOCUS       NP_001307913             386 aa            linear   PRI 23-DEC-2022
DEFINITION  interleukin-1 receptor type 1 isoform 4 [Homo sapiens].
ACCESSION   NP_001307913
VERSION     NP_001307913.1
DBSOURCE    REFSEQ: accession NM_001320984.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 386)
  AUTHORS   Jia X, Toda K, He L, Miao D, Yamada S, Yu L and Kodama K.
  TITLE     Expression-based Genome-wide Association Study Links OPN and IL1-RA
            With Newly Diagnosed Type 1 Diabetes in Children
  JOURNAL   J Clin Endocrinol Metab 107 (7), 1825-1832 (2022)
   PUBMED   35460250
  REMARK    GeneRIF: Expression-based Genome-wide Association Study Links OPN
            and IL1-RA With Newly Diagnosed Type 1 Diabetes in Children.
REFERENCE   2  (residues 1 to 386)
  AUTHORS   Umemura T, Fujinaga Y, Ashihara N, Ozawa M, Kuraishi Y, Watanabe T,
            Hamano H, Meguro A, Kawa S and Ota M.
  TITLE     IL1R1 gene variants associate with disease susceptibility to
            IgG4-related periaortitis/periarteritis in IgG4-related disease
  JOURNAL   Gene 820, 146212 (2022)
   PUBMED   35143941
  REMARK    GeneRIF: IL1R1 gene variants associate with disease susceptibility
            to IgG4-related periaortitis/periarteritis in IgG4-related disease.
REFERENCE   3  (residues 1 to 386)
  AUTHORS   Molina-Ayala MA, Rodriguez-Amador V, Suarez-Sanchez R, Leon-Solis
            L, Gomez-Zamudio J, Mendoza-Zubieta V, Cruz M and Suarez-Sanchez F.
  TITLE     Expression of obesity- and type-2 diabetes-associated genes in
            omental adipose tissue of individuals with obesity
  JOURNAL   Gene 815, 146181 (2022)
   PUBMED   34995730
  REMARK    GeneRIF: Expression of obesity- and type-2 diabetes-associated
            genes in omental adipose tissue of individuals with obesity.
REFERENCE   4  (residues 1 to 386)
  AUTHORS   Sivaraj N, K V R, Suvvari TK, Prasad S, Boppana SH and Vegi PK.
  TITLE     Association of IL1R1 gene (SNP rs2071374) with the risk of
            preeclampsia
  JOURNAL   J Reprod Immunol 149, 103463 (2022)
   PUBMED   34923425
  REMARK    GeneRIF: Association of IL1R1 gene (SNP rs2071374) with the risk of
            preeclampsia.
REFERENCE   5  (residues 1 to 386)
  AUTHORS   Chien CY, Tai SY, Li KH, Yang HL, Chan LP, Hsi E, Wang LF, Ho KY
            and Chang NC.
  TITLE     The association of genetic polymorphisms in interleukin-1 receptors
            type 1 and type 2 with sudden sensorineural hearing loss in a
            Taiwanese population: a case control study
  JOURNAL   J Otolaryngol Head Neck Surg 50 (1), 69 (2021)
   PUBMED   34865658
  REMARK    GeneRIF: The association of genetic polymorphisms in interleukin-1
            receptors type 1 and type 2 with sudden sensorineural hearing loss
            in a Taiwanese population: a case control study.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 386)
  AUTHORS   McMahan CJ, Slack JL, Mosley B, Cosman D, Lupton SD, Brunton LL,
            Grubin CE, Wignall JM, Jenkins NA, Brannan CI et al.
  TITLE     A novel IL-1 receptor, cloned from B cells by mammalian expression,
            is expressed in many cell types
  JOURNAL   EMBO J 10 (10), 2821-2832 (1991)
   PUBMED   1833184
REFERENCE   7  (residues 1 to 386)
  AUTHORS   Copeland NG, Silan CM, Kingsley DM, Jenkins NA, Cannizzaro LA,
            Croce CM, Huebner K and Sims JE.
  TITLE     Chromosomal location of murine and human IL-1 receptor genes
  JOURNAL   Genomics 9 (1), 44-50 (1991)
   PUBMED   1672292
REFERENCE   8  (residues 1 to 386)
  AUTHORS   Chua AO and Gubler U.
  TITLE     Sequence of the cDNA for the human fibroblast type interleukin-1
            receptor
  JOURNAL   Nucleic Acids Res 17 (23), 10114 (1989)
   PUBMED   2532321
REFERENCE   9  (residues 1 to 386)
  AUTHORS   Sims JE, Acres RB, Grubin CE, McMahan CJ, Wignall JM, March CJ and
            Dower SK.
  TITLE     Cloning the interleukin 1 receptor from human T cells
  JOURNAL   Proc Natl Acad Sci U S A 86 (22), 8946-8950 (1989)
   PUBMED   2530587
REFERENCE   10 (residues 1 to 386)
  AUTHORS   Uhl J, Newton RC, Giri JG, Sandlin G and Horuk R.
  TITLE     Identification of IL-1 receptors on human monocytes
  JOURNAL   J Immunol 142 (5), 1576-1581 (1989)
   PUBMED   2521881
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X16896.1, CD013912.1, M27492.1,
            AC007271.4 and CB240976.1.
            
            Summary: This gene encodes a cytokine receptor that belongs to the
            interleukin-1 receptor family. The encoded protein is a receptor
            for interleukin-1 alpha, interleukin-1 beta, and interleukin-1
            receptor antagonist. It is an important mediator involved in many
            cytokine-induced immune and inflammatory responses. This gene is
            located in a cluster of related cytokine receptor genes on
            chromosome 2q12. [provided by RefSeq, Dec 2013].
            
            Transcript Variant: The 5' UTR variation has not been determined
            for this transcript.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CD013912.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..386
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2-q12.1"
     Protein         1..386
                     /product="interleukin-1 receptor type 1 isoform 4"
                     /EC_number="3.2.2.6"
                     /note="interleukin 1 receptor alpha, type I; interleukin-1
                     receptor alpha; interleukin-1 receptor type I; CD121
                     antigen-like family member A"
                     /calculated_mol_wt=44187
     Region          <1..36
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          10..15
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          27..30
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          43..146
                     /region_name="Ig3_IL1R_like"
                     /note="Third immunoglobulin (Ig)-like domain of
                     interleukin-1 receptor (IL1R), and similar domains;
                     cd20932"
                     /db_xref="CDD:409526"
     Region          43..46
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409526"
     Region          51..54
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409526"
     Region          59..68
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409526"
     Region          73..79
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409526"
     Region          81..84
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409526"
     Region          90..99
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409526"
     Region          107..115
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409526"
     Region          126..133
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409526"
     Region          136..146
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409526"
     Region          201..357
                     /region_name="TIR"
                     /note="Toll - interleukin 1 - resistance; smart00255"
                     /db_xref="CDD:214587"
     CDS             1..386
                     /gene="IL1R1"
                     /gene_synonym="CD121A; D2S1473; IL-1R-alpha; IL-1RT1;
                     IL1R; IL1RA; P80"
                     /coded_by="NM_001320984.1:443..1603"
                     /note="isoform 4 is encoded by transcript variant 8"
                     /db_xref="GeneID:3554"
                     /db_xref="HGNC:HGNC:5993"
                     /db_xref="MIM:147810"
ORIGIN      
        1 mnvaekhrgn ytchasytyl gkqypitrvi efitleenkp trpvivspan etmevdlgsq
       61 iqlicnvtgq lsdiaywkwn gsvideddpv lgedyysven pankrrstli tvlniseies
      121 rfykhpftcf aknthgidaa yiqliypvtn fqkhmigicv tltviivcsv fiykifkidi
      181 vlwyrdscyd flpikasdgk tydayilypk tvgegstsdc difvfkvlpe vlekqcgykl
      241 fiygrddyvg edivevinen vkksrrliii lvretsgfsw lggsseeqia mynalvqdgi
      301 kvvlleleki qdyekmpesi kfikqkhgai rwsgdftqgp qsaktrfwkn vryhmpvqrr
      361 spsskhqlls patkeklqre ahvplg
//
LOCUS       NP_060138                335 aa            linear   PRI 24-DEC-2022
DEFINITION  nuclear distribution protein nudE homolog 1 [Homo sapiens].
ACCESSION   NP_060138
VERSION     NP_060138.1
DBSOURCE    REFSEQ: accession NM_017668.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 335)
  AUTHORS   Cabet S, Guibaud L and Sanlaville D.
  TITLE     [Microlissencephaly due to pathogenic variants of NDE1: from
            pathology to normal brain development]
  JOURNAL   Med Sci (Paris) 36 (10), 866-871 (2020)
   PUBMED   33026328
  REMARK    GeneRIF: [Microlissencephaly due to pathogenic variants of NDE1:
            from pathology to normal brain development].', trans 'Variations
            pathogenes de NDE1 et microlissencephalie - De la pathologie au
            developpement cerebral normal.
            Review article
REFERENCE   2  (residues 1 to 335)
  AUTHORS   Auckland P, Roscioli E, Coker HLE and McAinsh AD.
  TITLE     CENP-F stabilizes kinetochore-microtubule attachments and limits
            dynein stripping of corona cargoes
  JOURNAL   J Cell Biol 219 (5) (2020)
   PUBMED   32207772
  REMARK    GeneRIF: CENP-F stabilizes kinetochore-microtubule attachments and
            limits dynein stripping of corona cargoes.
REFERENCE   3  (residues 1 to 335)
  AUTHORS   Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M,
            Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A,
            Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M,
            Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla
            A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery
            P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L,
            Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A,
            Francois-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P,
            Sanlaville D, Dupont JM, Benzacken B and Pipiras E.
  TITLE     16p13.11 microduplication in 45 new patients: refined clinical
            significance and genotype-phenotype correlations
  JOURNAL   J Med Genet 57 (5), 301-307 (2020)
   PUBMED   30287593
  REMARK    GeneRIF: 16p13.11 microduplication in 45 new patients: refined
            clinical significance and genotype-phenotype correlations.
REFERENCE   4  (residues 1 to 335)
  AUTHORS   Sugis E, Dauvillier J, Leontjeva A, Adler P, Hindie V, Moncion T,
            Collura V, Daudin R, Loe-Mie Y, Herault Y, Lambert JC, Hermjakob H,
            Pupko T, Rain JC, Xenarios I, Vilo J, Simonneau M and Peterson H.
  TITLE     HENA, heterogeneous network-based data set for Alzheimer's disease
  JOURNAL   Sci Data 6 (1), 151 (2019)
   PUBMED   31413325
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 335)
  AUTHORS   Monda JK and Cheeseman IM.
  TITLE     Nde1 promotes diverse dynein functions through differential
            interactions and exhibits an isoform-specific proteasome
            association
  JOURNAL   Mol Biol Cell 29 (19), 2336-2345 (2018)
   PUBMED   30024347
  REMARK    GeneRIF: Nde1 makes unique contributions to human neurodevelopment
            through its regulation of both dynein and proteasome function.
REFERENCE   6  (residues 1 to 335)
  AUTHORS   Meyer G, Perez-Garcia CG and Gleeson JG.
  TITLE     Selective expression of doublecortin and LIS1 in developing human
            cortex suggests unique modes of neuronal movement
  JOURNAL   Cereb Cortex 12 (12), 1225-1236 (2002)
   PUBMED   12427674
  REMARK    GeneRIF: LIS1 deficiency adversely affects the migration and
            differentiation of DCX- and Reelin-positive neurons.
REFERENCE   7  (residues 1 to 335)
  AUTHORS   Takahashi M, Yamagiwa A, Nishimura T, Mukai H and Ono Y.
  TITLE     Centrosomal proteins CG-NAP and kendrin provide microtubule
            nucleation sites by anchoring gamma-tubulin ring complex
  JOURNAL   Mol Biol Cell 13 (9), 3235-3245 (2002)
   PUBMED   12221128
REFERENCE   8  (residues 1 to 335)
  AUTHORS   Tureci O, Sahin U, Koslowski M, Buss B, Bell C, Ballweber P, Zwick
            C, Eberle T, Zuber M, Villena-Heinsen C, Seitz G and Pfreundschuh
            M.
  TITLE     A novel tumour associated leucine zipper protein targeting to sites
            of gene transcription and splicing
  JOURNAL   Oncogene 21 (24), 3879-3888 (2002)
   PUBMED   12032826
REFERENCE   9  (residues 1 to 335)
  AUTHORS   Mayor T, Stierhof YD, Tanaka K, Fry AM and Nigg EA.
  TITLE     The centrosomal protein C-Nap1 is required for cell cycle-regulated
            centrosome cohesion
  JOURNAL   J Cell Biol 151 (4), 837-846 (2000)
   PUBMED   11076968
REFERENCE   10 (residues 1 to 335)
  AUTHORS   Golsteyn RM, Mundt KE, Fry AM and Nigg EA.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC001421.2 and AF001548.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the nuclear distribution E
            (NudE) family of proteins. The encoded protein is localized at the
            centrosome and interacts with other centrosome components as part
            of a multiprotein complex that regulates dynein function. This
            protein plays an essential role in microtubule organization,
            mitosis and neuronal migration. Mutations in this gene cause
            lissencephaly 4, a disorder characterized by lissencephaly, severe
            brain atrophy, microcephaly, and severe cognitive disability.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2012].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC001421.2, AK000108.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396354.6/ ENSP00000379642.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..335
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.11"
     Protein         1..335
                     /product="nuclear distribution protein nudE homolog 1"
                     /note="LIS1-interacting protein NUDE1, rat homolog; nudE
                     nuclear distribution gene E homolog 1; nudE nuclear
                     distribution E homolog 1; epididymis secretory sperm
                     binding protein"
                     /calculated_mol_wt=37590
     Region          1..93
                     /region_name="Self-association. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXR1.3)"
     Region          <27..>186
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          88..156
                     /region_name="Interaction with PAFAH1B1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXR1.3)"
     Region          134..309
                     /region_name="NUDE_C"
                     /note="NUDE protein, C-terminal conserved region;
                     pfam04880"
                     /db_xref="CDD:428169"
     Region          167..290
                     /region_name="Interaction with CENPF.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXR1.3)"
     Region          181..246
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXR1.3)"
     Site            211
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NXR1.3)"
     Site            215
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9NXR1.3)"
     Site            228
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9NXR1.3)"
     Site            231
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9NXR1.3)"
     Site            239
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NXR1.3)"
     Site            243
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9NXR1.3)"
     Site            246
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9NXR1.3)"
     Region          279..335
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXR1.3)"
     Site            282
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9NXR1.3)"
     Site            309
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NXR1.3)"
     CDS             1..335
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /coded_by="NM_017668.3:94..1101"
                     /db_xref="CCDS:CCDS10564.1"
                     /db_xref="GeneID:54820"
                     /db_xref="HGNC:HGNC:17619"
                     /db_xref="MIM:609449"
ORIGIN      
        1 medsgktfss eeeeanywkd lamtykqrae ntqeelrefq egsreyeael etqlqqietr
       61 nrdllsennr lrmeletike kfevqhsegy rqisaleddl aqtkaikdql qkyireleqa
      121 nddlerakra timsledfeq rlnqaierna fleseldeke nllesvqrlk deardlrqel
      181 avqqkqekpr tpmpssveae rtdtavqatg svpstpiahr gpssslntpg sfrrglddst
      241 ggtpltpaar isalnivgdl lrkvgalesk lascrnlvyd qspnrtggpa sgrssknrdg
      301 gerrpsstsv plgdkgldts crwlsksttr ssssc
//
LOCUS       NP_002569                544 aa            linear   PRI 25-DEC-2022
DEFINITION  serine/threonine-protein kinase PAK 3 isoform a [Homo sapiens].
ACCESSION   NP_002569 XP_001714563 XP_001718220
VERSION     NP_002569.1
DBSOURCE    REFSEQ: accession NM_002578.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 544)
  AUTHORS   Magne N, Rousseau V, Duarte K, Poea-Guyon S, Gleize V, Mutel A,
            Schmitt C, Castel H, Idbaih A, Huillard E, Sanson M and Barnier JV.
  TITLE     PAK3 is a key signature gene of the glioma proneural subtype and
            affects its proliferation, differentiation and growth
  JOURNAL   Cell Oncol (Dordr) 44 (6), 1257-1271 (2021)
   PUBMED   34550532
  REMARK    GeneRIF: PAK3 is a key signature gene of the glioma proneural
            subtype and affects its proliferation, differentiation and growth.
REFERENCE   2  (residues 1 to 544)
  AUTHORS   Tan X, Tong L, Li L, Xu J, Xie S, Ji L, Fu J, Liu Q, Shen S, Liu Y,
            Xiao Y, Gao F, Moses RE, Bardeesy N, Wang Y, Zhang J, Tang L, Li L,
            Wong KK, Song D, Yang X, Liu J and Li X.
  TITLE     Loss of Smad4 promotes aggressive lung cancer metastasis by
            de-repression of PAK3 via miRNA regulation
  JOURNAL   Nat Commun 12 (1), 4853 (2021)
   PUBMED   34381046
  REMARK    GeneRIF: Loss of Smad4 promotes aggressive lung cancer metastasis
            by de-repression of PAK3 via miRNA regulation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 544)
  AUTHORS   Castillon C, Gonzalez L, Domenichini F, Guyon S, Da Silva K, Durand
            C, Lestaevel P, Vaillend C, Laroche S, Barnier JV and Poirier R.
  TITLE     The intellectual disability PAK3 R67C mutation impacts cognitive
            functions and adult hippocampal neurogenesis
  JOURNAL   Hum Mol Genet 29 (12), 1950-1968 (2020)
   PUBMED   31943058
  REMARK    GeneRIF: The intellectual disability PAK3 R67C mutation impacts
            cognitive functions and adult hippocampal neurogenesis.
REFERENCE   4  (residues 1 to 544)
  AUTHORS   Qian Y, Wu B, Lu Y, Zhou W, Wang S and Wang H.
  TITLE     Novel PAK3 gene missense variant associated with two Chinese
            siblings with intellectual disability: a case report
  JOURNAL   BMC Med Genet 21 (1), 31 (2020)
   PUBMED   32050918
  REMARK    GeneRIF: We diagnosed two male siblings with developmental delays
            as having a PAK3 likely pathogenic variant. This finding expands
            the list of PAK3 gene mutations associated with neurodevelopmental
            disorders and provides further details on its clinical features
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 544)
  AUTHORS   Kreis P, Rousseau V, Thevenot E, Combeau G and Barnier JV.
  TITLE     The four mammalian splice variants encoded by the p21-activated
            kinase 3 gene have different biological properties
  JOURNAL   J Neurochem 106 (3), 1184-1197 (2008)
   PUBMED   18507705
REFERENCE   6  (residues 1 to 544)
  AUTHORS   Rousseau V, Goupille O, Morin N and Barnier JV.
  TITLE     A new constitutively active brain PAK3 isoform displays modified
            specificities toward Rac and Cdc42 GTPases
  JOURNAL   J Biol Chem 278 (6), 3912-3920 (2003)
   PUBMED   12464619
  REMARK    GeneRIF: PAK3 codes for a splice variant that contains a 45-bp
            alternatively spliced exon. The exon encodes 15 aa that are
            inserted in the regulatory domain. PAK3b displays a high kinase
            activity in starved cells that is not further stimulated by active
            GTPases.
REFERENCE   7  (residues 1 to 544)
  AUTHORS   Allen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillan JC,
            Cerione RA, Mulley JC and Walsh CA.
  TITLE     PAK3 mutation in nonsyndromic X-linked mental retardation
  JOURNAL   Nat Genet 20 (1), 25-30 (1998)
   PUBMED   9731525
REFERENCE   8  (residues 1 to 544)
  AUTHORS   Illarioshkin SN, Tanaka H, Markova ED, Nikolskaya NN,
            Ivanova-Smolenskaya IA and Tsuji S.
  TITLE     X-linked nonprogressive congenital cerebellar hypoplasia: clinical
            description and mapping to chromosome Xq
  JOURNAL   Ann Neurol 40 (1), 75-83 (1996)
   PUBMED   8687195
REFERENCE   9  (residues 1 to 544)
  AUTHORS   Manser E, Chong C, Zhao ZS, Leung T, Michael G, Hall C and Lim L.
  TITLE     Molecular cloning of a new member of the p21-Cdc42/Rac-activated
            kinase (PAK) family
  JOURNAL   J Biol Chem 270 (42), 25070-25078 (1995)
   PUBMED   7559638
REFERENCE   10 (residues 1 to 544)
  AUTHORS   Manser E, Leung T, Salihuddin H, Zhao ZS and Lim L.
  TITLE     A brain serine/threonine protein kinase activated by Cdc42 and Rac1
  JOURNAL   Nature 367 (6458), 40-46 (1994)
   PUBMED   8107774
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA957724.1, DA022842.1,
            AK290504.1, BC117353.1, DB563607.2 and AL031117.1.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Jun 6, 2008 this sequence version replaced
            XP_001718220.1, XP_001714563.1.
            
            Summary: The protein encoded by this gene is a serine-threonine
            kinase and forms an activated complex with GTP-bound RAS-like
            (P21), CDC2 and RAC1. This protein may be necessary for dendritic
            development and for the rapid cytoskeletal reorganization in
            dendritic spines associated with synaptic plasticity. Defects in
            this gene are the cause of a non-syndromic form of X-linked
            intellectual disability. Alternatively spliced transcript variants
            encoding different isoforms have been identified. [provided by
            RefSeq, Jul 2017].
            
            Transcript Variant: This variant (2) represents use of an alternate
            promoter compared to variant 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.35228.1,
                                           SRR1803612.138966.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372007.10/ ENSP00000361077.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..544
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     Protein         1..544
                     /product="serine/threonine-protein kinase PAK 3 isoform a"
                     /EC_number="2.7.11.1"
                     /note="p21 (CDKN1A)-activated kinase 3; oligophrenin-3;
                     serine/threonine-protein kinase PAK 3; adriamycin
                     resistance-associated; p21 protein (Cdc42/Rac)-activated
                     kinase 3"
                     /calculated_mol_wt=60562
     Region          69..126
                     /region_name="PBD"
                     /note="P21-Rho-binding domain; pfam00786"
                     /db_xref="CDD:395634"
     Site            order(70,73,76,78,81,98,102)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238526"
     Region          248..544
                     /region_name="STKc_PAK3"
                     /note="Catalytic domain of the Protein Serine/Threonine
                     Kinase, p21-activated kinase 3; cd06656"
                     /db_xref="CDD:132987"
     Site            order(274..278,282,295,297,326,342..346,348..349,352,387,
                     389..392,394,404..405,408,421..425,427,454,463..465)
                     /site_type="active"
                     /db_xref="CDD:132987"
     Site            order(274..278,282,295,297,326,342..346,348..349,352,
                     391..392,394,404..405)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:132987"
     Site            order(277..278,387,389..391,408,421..425,427,454,463..465)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:132987"
     Site            order(279,313,382,384..387,405..406,433..434,436,441,466,
                     469,472)
                     /site_type="other"
                     /note="AID interaction site [polypeptide binding]"
                     /db_xref="CDD:132987"
     Site            404..427
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:132987"
     CDS             1..544
                     /gene="PAK3"
                     /gene_synonym="ARA; beta-PAK; bPAK; MRX30; MRX47; OPHN3;
                     PAK-3; PAK3beta; XLID30"
                     /coded_by="NM_002578.5:578..2212"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS14554.1"
                     /db_xref="GeneID:5063"
                     /db_xref="HGNC:HGNC:8592"
                     /db_xref="MIM:300142"
ORIGIN      
        1 msdgldneek ppapplrmns nnrdssalnh sskplpmape eknkkarlrs ifpgggdktn
       61 kkkekerpei slpsdfehti hvgfdavtge ftgipeqwar llqtsnitkl eqkknpqavl
      121 dvlkfydske tvnnqkymsf tsgdksahgy iaahpsstkt asepplappv seeedeeeee
      181 eedenepppv iaprpehtks iytrsvvesi aspavpnkev tppsaenans stlyrntdrq
      241 rkkskmtdee ileklrsivs vgdpkkkytr fekigqgasg tvytaldiat gqevaikqmn
      301 lqqqpkkeli ineilvmren knpnivnyld sylvgdelwv vmeylaggsl tdvvtetcmd
      361 egqiaavcre clqaldflhs nqvihrdiks dnillgmdgs vkltdfgfca qitpeqskrs
      421 tmvgtpywma pevvtrkayg pkvdiwslgi maiemvegep pylnenplra lyliatngtp
      481 elqnperlsa vfrdflnrcl emdvdrrgsa kellqhpflk lakplssltp liiaakeaik
      541 nssr
//
LOCUS       NP_001374127            1038 aa            linear   PRI 30-DEC-2022
DEFINITION  ataxin-2-like protein isoform 31 [Homo sapiens].
ACCESSION   NP_001374127
VERSION     NP_001374127.1
DBSOURCE    REFSEQ: accession NM_001387198.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1038)
  AUTHORS   Lin L, Li X, Pan C, Lin W, Shao R, Liu Y, Zhang J, Luo Y, Qian K,
            Shi M, Bin J, Liao Y and Liao W.
  TITLE     ATXN2L upregulated by epidermal growth factor promotes gastric
            cancer cell invasiveness and oxaliplatin resistance
  JOURNAL   Cell Death Dis 10 (3), 173 (2019)
   PUBMED   30787271
  REMARK    GeneRIF: ATXN2L promotes cell invasiveness and oxaliplatin
            resistance and can be upregulated by EGF via PI3K/Akt signaling.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1038)
  AUTHORS   Kaehler C, Guenther A, Uhlich A and Krobitsch S.
  TITLE     PRMT1-mediated arginine methylation controls ATXN2L localization
  JOURNAL   Exp Cell Res 334 (1), 114-125 (2015)
   PUBMED   25748791
  REMARK    GeneRIF: ATXN2L associates with the protein
            arginine-N-methyltransferase 1 (PRMT1).
REFERENCE   3  (residues 1 to 1038)
  AUTHORS   Guo Z, Neilson LJ, Zhong H, Murray PS, Zanivan S and Zaidel-Bar R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1038)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen
            AA, Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke
            L, Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM,
            Tiemeier H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst
            FC, Ward ME, Wright MJ, Davey Smith G, Deary IJ, Johannesson M,
            Plomin R, Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   5  (residues 1 to 1038)
  AUTHORS   Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB,
            Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G,
            Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J,
            Graslund S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ
            and Greenblatt J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
REFERENCE   6  (residues 1 to 1038)
  AUTHORS   Ong SE, Mittler G and Mann M.
  TITLE     Identifying and quantifying in vivo methylation sites by heavy
            methyl SILAC
  JOURNAL   Nat Methods 1 (2), 119-126 (2004)
   PUBMED   15782174
REFERENCE   7  (residues 1 to 1038)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   8  (residues 1 to 1038)
  AUTHORS   Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M and
            Peters EC.
  TITLE     Robust phosphoproteomic profiling of tyrosine phosphorylation sites
            from human T cells using immobilized metal affinity chromatography
            and tandem mass spectrometry
  JOURNAL   Anal Chem 76 (10), 2763-2772 (2004)
   PUBMED   15144186
REFERENCE   9  (residues 1 to 1038)
  AUTHORS   Figueroa KP and Pulst SM.
  TITLE     Identification and expression of the gene for human
            ataxin-2-related protein on chromosome 16
  JOURNAL   Exp Neurol 184 (2), 669-678 (2003)
   PUBMED   14769358
REFERENCE   10 (residues 1 to 1038)
  AUTHORS   Meunier C, Bordereaux D, Porteu F, Gisselbrecht S, Chretien S and
            Courtois G.
  TITLE     Cloning and characterization of a family of proteins associated
            with Mpl
  JOURNAL   J Biol Chem 277 (11), 9139-9147 (2002)
   PUBMED   11784712
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC145285.2, AC116346.2 and
            AC133550.2.
            
            Summary: This gene encodes an ataxin type 2 related protein of
            unknown function. This protein is a member of the spinocerebellar
            ataxia (SCAs) family, which is associated with a complex group of
            neurodegenerative disorders. Several alternatively spliced
            transcripts encoding different isoforms have been found for this
            gene. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.133876.1,
                                           SRR14038191.3733237.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1038
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     Protein         1..1038
                     /product="ataxin-2-like protein isoform 31"
                     /note="ataxin 2 related protein; ataxin-2 domain protein;
                     ataxin-2-like protein"
                     /calculated_mol_wt=109473
     Region          1..115
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          98..121
                     /region_name="Interaction with MPL.
                     /evidence=ECO:0000269|PubMed:11784712"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            103
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            111
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            118
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          123..196
                     /region_name="SM-ATX"
                     /note="Ataxin 2 SM domain; pfam14438"
                     /db_xref="CDD:433954"
     Site            207
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q7TQH0; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          209..744
                     /region_name="PBP1"
                     /note="PAB1-binding protein PBP1, interacts with
                     poly(A)-binding protein [RNA processing and modification];
                     COG5180"
                     /db_xref="CDD:227507"
     Site            238
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          264..326
                     /region_name="LsmAD"
                     /note="LsmAD domain; pfam06741"
                     /db_xref="CDD:429091"
     Site            264
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15144186; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            306
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            309
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15144186; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          316..521
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            335
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            339
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            349
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15144186; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            361
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000269|PubMed:25748791; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            391
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            409
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            449
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            493
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            496
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          551..697
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            557
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7TQH0; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            558
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            559
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            563
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            594
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            632
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            634
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          <661..>941
                     /region_name="PRK10263"
                     /note="DNA translocase FtsK; Provisional"
                     /db_xref="CDD:236669"
     Site            674
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            680
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Site            684
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          733..770
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          820..849
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     Region          865..940
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWM7.2)"
     CDS             1..1038
                     /gene="ATXN2L"
                     /gene_synonym="A2D; A2LG; A2LP; A2RP"
                     /coded_by="NM_001387198.1:262..3378"
                     /note="isoform 31 is encoded by transcript variant 39"
                     /db_xref="GeneID:11273"
                     /db_xref="HGNC:HGNC:31326"
                     /db_xref="MIM:607931"
ORIGIN      
        1 mlkpqplqqp sqpqqppptq qavarrppgg tsppngglpg platsaappg ppaaaspclg
       61 pvaaagsglr rgaegilapq ppppqqhqer pgaaaigsar gqstgkgppq spvfegvynn
      121 srmlhfltav vgstcdvkvk ngttyegifk tlsskfelav davhrkasep aggprrediv
      181 dtmvfkpsdv mlvhfrnvdf nyatkdkftd saiamnskvn gehkekvlqr weggdsnsdd
      241 ydlesdmsng wdpnemfkfn eenygvktty dsslssytvp lekdnseefr qrelraaqla
      301 reiesspqyr lriamenddg rteeekhsav qrqgsgresp slasregkyi plpqrvregp
      361 rggvrcsssr ggrpglsslp prgphhldns spgpgsearg inggpsrmsp kaqrplrgak
      421 tlsspsnrps getsvppppa vgrmypprsp ksaapapisa scpeppigsa vptssasipv
      481 tssvsdpgvg sispaspkis laptdvkels tkepgrtlep qelariagkv pglqneqkrf
      541 qleelrkfga qfklqpsssp ensldpfppr ilkeepkgke kevdglltse pmgspvsskt
      601 esvsdkedkp plapsggteg peqppppcps qtgsppvgli kgedkdegpv aeqvkkstln
      661 pnakefnptk pllsvnksts tptspgprth stpsipvlta gqsglyspqy isyipqihmg
      721 pavqapqmyp ypvsnsvpgq qgkyrgakgs lppqrsdqhq pasappmmqa aaaagpplva
      781 atpyssyipy npqqfpgqpa mmqpmahyps qpvfapmlqs nprmltsgsh pqaivssstp
      841 qypsaeqptp qalyatvhqs yphhatqlha hqpqpattpt gsqpqsqhaa pspvqhqagq
      901 aphlgsgqpq qnlyhpgalt gtppslppgp saqspqssfp qpaavyaihh qqlphgftnm
      961 ahvtqahvqt gitaappphp gaphppqvml lhppqshggp pqgavpqsgv palsastpsp
     1021 ypyighpqal sdpdcllt
//
LOCUS       NP_001350892             151 aa            linear   PRI 31-DEC-2022
DEFINITION  derlin-1 isoform c [Homo sapiens].
ACCESSION   NP_001350892 XP_006716720
VERSION     NP_001350892.1
DBSOURCE    REFSEQ: accession NM_001363963.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 151)
  AUTHORS   Miyano K, Okamoto S, Kajikawa M, Kiyohara T, Kawai C, Yamauchi A
            and Kuribayashi F.
  TITLE     Regulation of Derlin-1-mediated degradation of NADPH oxidase
            partner p22phox by thiol modification
  JOURNAL   Redox Biol 56, 102479 (2022)
   PUBMED   36122532
  REMARK    GeneRIF: Regulation of Derlin-1-mediated degradation of NADPH
            oxidase partner p22(phox) by thiol modification.
REFERENCE   2  (residues 1 to 151)
  AUTHORS   Wei JY, Zhang Q, Yao Y, He HB, Sun CH, Dong TT, Meng GP and Zhang
            J.
  TITLE     Circular RNA circTTBK2 facilitates non-small-cell lung cancer
            malignancy through the miR-873-5p/TEAD1/DERL1 axis
  JOURNAL   Epigenomics 14 (16), 931-949 (2022)
   PUBMED   35916080
  REMARK    GeneRIF: Circular RNA circTTBK2 facilitates non-small-cell lung
            cancer malignancy through the miR-873-5p/TEAD1/DERL1 axis.
REFERENCE   3  (residues 1 to 151)
  AUTHORS   Cai Y, Xu K, Aihaiti Y, Li Z, Yuan Q, Xu J, Zheng H, Yang M, Wang
            B, Yang Y, Yang Y and Xu P.
  TITLE     Derlin-1, as a Potential Early Predictive Biomarker for Nonresponse
            to Infliximab Treatment in Rheumatoid Arthritis, Is Related to
            Autophagy
  JOURNAL   Front Immunol 12, 795912 (2022)
   PUBMED   35046954
  REMARK    GeneRIF: Derlin-1, as a Potential Early Predictive Biomarker for
            Nonresponse to Infliximab Treatment in Rheumatoid Arthritis, Is
            Related to Autophagy.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 151)
  AUTHORS   Rao B, Li S, Yao D, Wang Q, Xia Y, Jia Y, Shen Y and Cao Y.
  TITLE     The cryo-EM structure of an ERAD protein channel formed by
            tetrameric human Derlin-1
  JOURNAL   Sci Adv 7 (10) (2021)
   PUBMED   33658201
  REMARK    GeneRIF: The cryo-EM structure of an ERAD protein channel formed by
            tetrameric human Derlin-1.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 151)
  AUTHORS   Schulze A, Standera S, Buerger E, Kikkert M, van Voorden S, Wiertz
            E, Koning F, Kloetzel PM and Seeger M.
  TITLE     The ubiquitin-domain protein HERP forms a complex with components
            of the endoplasmic reticulum associated degradation pathway
  JOURNAL   J Mol Biol 354 (5), 1021-1027 (2005)
   PUBMED   16289116
REFERENCE   6  (residues 1 to 151)
  AUTHORS   Ye Y, Shibata Y, Kikkert M, van Voorden S, Wiertz E and Rapoport
            TA.
  TITLE     Recruitment of the p97 ATPase and ubiquitin ligases to the site of
            retrotranslocation at the endoplasmic reticulum membrane
  JOURNAL   Proc Natl Acad Sci U S A 102 (40), 14132-14138 (2005)
   PUBMED   16186510
  REMARK    GeneRIF: Derlin-1 is part of a retrotranslocation channel that is
            associated with both the polyubiquitination and p97-ATPase
            machineries at the endoplasmic reticulum membrane.
REFERENCE   7  (residues 1 to 151)
  AUTHORS   Lilley BN and Ploegh HL.
  TITLE     Multiprotein complexes that link dislocation, ubiquitination, and
            extraction of misfolded proteins from the endoplasmic reticulum
            membrane
  JOURNAL   Proc Natl Acad Sci U S A 102 (40), 14296-14301 (2005)
   PUBMED   16186509
REFERENCE   8  (residues 1 to 151)
  AUTHORS   Katiyar S, Joshi S and Lennarz WJ.
  TITLE     The retrotranslocation protein Derlin-1 binds peptide:N-glycanase
            to the endoplasmic reticulum
  JOURNAL   Mol Biol Cell 16 (10), 4584-4594 (2005)
   PUBMED   16055502
  REMARK    GeneRIF: Derlin-1 interacts with the N-terminal domain of PNGase
            via its cytosolic C-terminus. PNGase distributed in two
            populations; ER-associated and free in the cytosol, which suggests
            the deglycosylation process can proceed at either site
REFERENCE   9  (residues 1 to 151)
  AUTHORS   Ye Y, Shibata Y, Yun C, Ron D and Rapoport TA.
  TITLE     A membrane protein complex mediates retro-translocation from the ER
            lumen into the cytosol
  JOURNAL   Nature 429 (6994), 841-847 (2004)
   PUBMED   15215856
  REMARK    GeneRIF: Derlin-1 interacts with US11, a virally encoded ER protein
            that specifically targets MHC class I heavy chains for export from
            the ER, as well as with VIMP, a novel membrane protein that
            recruits the p97 ATPase and its cofactor
REFERENCE   10 (residues 1 to 151)
  AUTHORS   Lilley BN and Ploegh HL.
  TITLE     A membrane protein required for dislocation of misfolded proteins
            from the ER
  JOURNAL   Nature 429 (6994), 834-840 (2004)
   PUBMED   15215855
  REMARK    GeneRIF: Derlin-1 is an important factor for the extraction of
            certain aberrantly folded proteins from the mammalian ER
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA823869.1, AY358818.1,
            AK023846.1, AF131854.1 and AA976062.1.
            On Jun 3, 2018 this sequence version replaced XP_006716720.1.
            
            Summary: The protein encoded by this gene is a member of the derlin
            family. Members of this family participate in the ER-associated
            degradation response and retrotranslocate misfolded or unfolded
            proteins from the ER lumen to the cytosol for proteasomal
            degradation. This protein recognizes substrate in the ER and works
            in a complex to retrotranslocate it across the ER membrane into the
            cytosol. This protein may select cystic fibrosis transmembrane
            conductance regulator protein (CFTR) for degradation as well as
            unfolded proteins in Alzheimer's disease. Alternative splicing
            results in multiple transcript variants that encode different
            protein isoforms. [provided by RefSeq, Aug 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA823869.1, DA379973.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMN03267757
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..151
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.13"
     Protein         1..151
                     /product="derlin-1 isoform c"
                     /note="DERtrin-1; degradation in endoplasmic reticulum
                     protein 1; Der1-like domain family, member 1"
                     /calculated_mol_wt=17090
     Region          <1..104
                     /region_name="Rhomboid"
                     /note="Rhomboid family; cl21536"
                     /db_xref="CDD:451297"
     CDS             1..151
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1; derlin-1"
                     /coded_by="NM_001363963.2:86..541"
                     /note="isoform c is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS83319.1"
                     /db_xref="GeneID:79139"
                     /db_xref="HGNC:HGNC:28454"
                     /db_xref="MIM:608813"
ORIGIN      
        1 mllfnwiciv itglamdmql lmiplimsvl yvwaqlnrdm ivsfwfgtrf kacylpwvil
       61 gfnyiiggsv inelignlvg hlyfflmfry pmdlggrnfl stpqflyrwl psrrggvsgf
      121 gvppasmrra adqnggggrh nwgqgfrlgd q
//
LOCUS       NP_001269934             559 aa            linear   PRI 31-DEC-2022
DEFINITION  zinc finger protein 133 isoform i [Homo sapiens].
ACCESSION   NP_001269934
VERSION     NP_001269934.2
DBSOURCE    REFSEQ: accession NM_001283005.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 559)
  AUTHORS   Jung ES, Choi KW, Kim SW, Hubenthal M, Mucha S, Park J, Park Z,
            Ellinghaus D, Schreiber S, Franke A, Oh WY and Cheon JH.
  TITLE     ZNF133 is associated with infliximab responsiveness in patients
            with inflammatory bowel diseases
  JOURNAL   J Gastroenterol Hepatol 34 (10), 1727-1735 (2019)
   PUBMED   30851117
  REMARK    GeneRIF: ZNF133 SNPs are associated with infliximab responsiveness
            in patients crohn's disease and ulcerative colitis.
REFERENCE   2  (residues 1 to 559)
  AUTHORS   Miyamoto-Sato E, Fujimori S, Ishizaka M, Hirai N, Masuoka K, Saito
            R, Ozawa Y, Hino K, Washio T, Tomita M, Yamashita T, Oshikubo T,
            Akasaka H, Sugiyama J, Matsumoto Y and Yanagawa H.
  TITLE     A comprehensive resource of interacting protein regions for
            refining human transcription factor networks
  JOURNAL   PLoS One 5 (2), e9289 (2010)
   PUBMED   20195357
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 559)
  AUTHORS   Lee SJ, Lee JR, Hahn HS, Kim YH, Ahn JH, Bae CD, Yang JM and Hahn
            MJ.
  TITLE     PIAS1 interacts with the KRAB zinc finger protein, ZNF133, via zinc
            finger motifs and regulates its transcriptional activity
  JOURNAL   Exp Mol Med 39 (4), 450-457 (2007)
   PUBMED   17934332
  REMARK    GeneRIF: the transcriptional repressor activity of ZNF133 is
            regulated by both the KRAB domain and the zinc finger motifs, and
            that the repressive effect by zinc finger motifs is mediated by
            PIAS1
REFERENCE   4  (residues 1 to 559)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   5  (residues 1 to 559)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   6  (residues 1 to 559)
  AUTHORS   Moosmann P, Georgiev O, Thiesen HJ, Hagmann M and Schaffner W.
  TITLE     Silencing of RNA polymerases II and III-dependent transcription by
            the KRAB protein domain of KOX1, a Kruppel-type zinc finger factor
  JOURNAL   Biol Chem 378 (7), 669-677 (1997)
   PUBMED   9278146
REFERENCE   7  (residues 1 to 559)
  AUTHORS   Vissing H, Meyer WK, Aagaard L, Tommerup N and Thiesen HJ.
  TITLE     Repression of transcriptional activity by heterologous KRAB domains
            present in zinc finger proteins
  JOURNAL   FEBS Lett 369 (2-3), 153-157 (1995)
   PUBMED   7649249
REFERENCE   8  (residues 1 to 559)
  AUTHORS   Tommerup N and Vissing H.
  TITLE     Isolation and fine mapping of 16 novel human zinc finger-encoding
            cDNAs identify putative candidate genes for developmental and
            malignant disorders
  JOURNAL   Genomics 27 (2), 259-264 (1995)
   PUBMED   7557990
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL049646.19.
            On Sep 30, 2020 this sequence version replaced NP_001269934.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK316386.1, SRR3476690.1175063.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..559
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.23"
     Protein         1..559
                     /product="zinc finger protein 133 isoform i"
                     /note="zinc finger protein 133 (clone pHZ-13); zinc finger
                     protein 150 (pHZ-66)"
                     /calculated_mol_wt=62329
     Region          120..529
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          121..141
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          149..169
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          177..197
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(182,184,186,188..189,192..193,196,210,212,216..217,
                     220..221,224,238,240,242,244..245,248..249,252)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          205..225
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          233..253
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          261..281
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          289..309
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          317..337
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(322,324,326,328..329,332..333,336,350,352,356..357,
                     360..361,364,378,380,382,384..385,388..389,392)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          345..365
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          373..393
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          401..421
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          429..449
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          457..477
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          485..505
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          513..532
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..559
                     /gene="ZNF133"
                     /gene_synonym="pHZ-13; pHZ-66; ZNF150"
                     /coded_by="NM_001283005.3:144..1823"
                     /note="isoform i is encoded by transcript variant 13"
                     /db_xref="CCDS:CCDS74703.2"
                     /db_xref="GeneID:7692"
                     /db_xref="HGNC:HGNC:12917"
                     /db_xref="MIM:604075"
ORIGIN      
        1 mqhvlcnhpp wiftclcaeg niqpgdpgpg dqekqqqase grpwsdqaeg pegegamplf
       61 grtkkrtlga fsrppqrqpv ssrnglrgve leaspaqsgn peetdkllkr ievlgfgtvn
      121 cgecglsfsk mtnllshqri hsgekpyvcg vcekgfslkk slarhqkahs gekpivcrec
      181 grgfnrkstl iiherthsge kpymcsecgr gfsqksnlii hqrthsgekp yvcrecgkgf
      241 sqksavvrhq rthleektiv csdcglgfsd rsnlishqrt hsgekpyack ecgrcfrqrt
      301 tlvnhqrths kekpyvcgvc ghsfsqnstl ishrrthtge kpyvcgvcgr gfslkshlnr
      361 hqnihsgekp ivckdcgrgf sqqsnlirhq rthsgekpmv cgecgrgfsq ksnlvahqrt
      421 hsgerpyvcr ecgrgfshqa glirhkrkhs rekpymcrqc glgfgnksal ithkrahsee
      481 kpcvcrecgq gflqkshltl hqmthtgekp yvcktcgrgf slkshlsrhr kttsvhhrlp
      541 vqpdpepcag qpsdslysl
//
LOCUS       NP_001264129             137 aa            linear   PRI 08-JAN-2023
DEFINITION  protein cornichon homolog 4 isoform 5 [Homo sapiens].
ACCESSION   NP_001264129
VERSION     NP_001264129.1
DBSOURCE    REFSEQ: accession NM_001277200.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 137)
  AUTHORS   Zhang H, Lin Y, Zhuang M, Zhu L, Dai Y and Lin M.
  TITLE     Screening and identification of CNIH4 gene associated with cell
            proliferation in gastric cancer based on a large-scale CRISPR-Cas9
            screening database DepMap
  JOURNAL   Gene 850, 146961 (2023)
   PUBMED   36220450
  REMARK    GeneRIF: Screening and identification of CNIH4 gene associated with
            cell proliferation in gastric cancer based on a large-scale
            CRISPR-Cas9 screening database DepMap.
REFERENCE   2  (residues 1 to 137)
  AUTHORS   Liu H and Li Y.
  TITLE     Potential roles of Cornichon Family AMPA Receptor Auxiliary Protein
            4 (CNIH4) in head and neck squamous cell carcinoma
  JOURNAL   Cancer Biomark 35 (4), 439-450 (2022)
   PUBMED   36404537
  REMARK    GeneRIF: Potential roles of Cornichon Family AMPA Receptor
            Auxiliary Protein 4 (CNIH4) in head and neck squamous cell
            carcinoma.
REFERENCE   3  (residues 1 to 137)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 137)
  AUTHORS   Chen S, Li T, Zhao Q, Xiao B and Guo J.
  TITLE     Using circular RNA hsa_circ_0000190 as a new biomarker in the
            diagnosis of gastric cancer
  JOURNAL   Clin Chim Acta 466, 167-171 (2017)
   PUBMED   28130019
  REMARK    GeneRIF: hsa_circ_0000190 (gene symbol is CNIH4) may be a novel
            non-invasive biomarker for the diagnosis of gastric cancer
REFERENCE   5  (residues 1 to 137)
  AUTHORS   Sauvageau E, Rochdi MD, Oueslati M, Hamdan FF, Percherancier Y,
            Simpson JC, Pepperkok R and Bouvier M.
  TITLE     CNIH4 interacts with newly synthesized GPCR and controls their
            export from the endoplasmic reticulum
  JOURNAL   Traffic 15 (4), 383-400 (2014)
   PUBMED   24405750
REFERENCE   6  (residues 1 to 137)
  AUTHORS   Wray NR, Pergadia ML, Blackwood DH, Penninx BW, Gordon SD, Nyholt
            DR, Ripke S, MacIntyre DJ, McGhee KA, Maclean AW, Smit JH, Hottenga
            JJ, Willemsen G, Middeldorp CM, de Geus EJ, Lewis CM, McGuffin P,
            Hickie IB, van den Oord EJ, Liu JZ, Macgregor S, McEvoy BP, Byrne
            EM, Medland SE, Statham DJ, Henders AK, Heath AC, Montgomery GW,
            Martin NG, Boomsma DI, Madden PA and Sullivan PF.
  TITLE     Genome-wide association study of major depressive disorder: new
            results, meta-analysis, and lessons learned
  JOURNAL   Mol Psychiatry 17 (1), 36-48 (2012)
   PUBMED   21042317
REFERENCE   7  (residues 1 to 137)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA185135.1, HY145928.1 and BQ575976.1.
            
            Transcript Variant: This variant (5) uses an alternate downstream
            exon in place of the last exon of variant 1. The resulting isoform
            (5) has a shorter and distinct C-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BQ575976.1, BI196635.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..137
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.11"
     Protein         1..137
                     /product="protein cornichon homolog 4 isoform 5"
                     /note="protein cornichon homolog 4"
                     /calculated_mol_wt=15640
     Region          3..130
                     /region_name="Cornichon"
                     /note="Cornichon protein; pfam03311"
                     /db_xref="CDD:427237"
     Site            5..25
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P003.1)"
     Site            57..77
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P003.1)"
     CDS             1..137
                     /gene="CNIH4"
                     /gene_synonym="CNIH-4; CNIH2; HSPC163"
                     /coded_by="NM_001277200.2:47..460"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS60429.1"
                     /db_xref="GeneID:29097"
                     /db_xref="HGNC:HGNC:25013"
                     /db_xref="MIM:617483"
ORIGIN      
        1 meavvfvfsl ldccalifls vyfiitlsdl ecdyinarsc csklnkwvip elightivtv
       61 lllmslhwfi fllnlpvatw niyryimvps gnmgvfdpte ihnrgqlksh mkeamiklgf
      121 hllcffmyly sgsncpc
//
LOCUS       NP_001350922             646 aa            linear   PRI 12-MAR-2023
DEFINITION  calnexin isoform a [Homo sapiens].
ACCESSION   NP_001350922
VERSION     NP_001350922.1
DBSOURCE    REFSEQ: accession NM_001363993.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 646)
  AUTHORS   Ye Y, Zhang J, Guo Y, Zhu J, Tang B and Fan P.
  TITLE     PON2 ameliorates Ang II-induced cardiomyocyte injury by targeting
            the CANX/NOX4 signaling pathway
  JOURNAL   Immun Inflamm Dis 11 (2), e765 (2023)
   PUBMED   36840500
  REMARK    GeneRIF: PON2 ameliorates Ang II-induced cardiomyocyte injury by
            targeting the CANX/NOX4 signaling pathway.
REFERENCE   2  (residues 1 to 646)
  AUTHORS   Yan G, Li X, Zheng Z, Gao W, Chen C, Wang X, Cheng Z, Yu J, Zou G,
            Farooq MZ, Zhu X, Zhu W, Zhong Q and Yan X.
  TITLE     KAT7-mediated CANX (calnexin) crotonylation regulates
            leucine-stimulated MTORC1 activity
  JOURNAL   Autophagy 18 (12), 2799-2816 (2022)
   PUBMED   35266843
  REMARK    GeneRIF: KAT7-mediated CANX (calnexin) crotonylation regulates
            leucine-stimulated MTORC1 activity.
REFERENCE   3  (residues 1 to 646)
  AUTHORS   Watanabe A, Mizoguchi I, Hasegawa H, Katahira Y, Inoue S, Sakamoto
            E, Furusaka Y, Sekine A, Miyakawa S, Murakami F, Xu M, Yoneto T and
            Yoshimoto T.
  TITLE     A Chaperone-Like Role for EBI3 in Collaboration With Calnexin Under
            Inflammatory Conditions
  JOURNAL   Front Immunol 12, 757669 (2021)
   PUBMED   34603342
  REMARK    GeneRIF: A Chaperone-Like Role for EBI3 in Collaboration With
            Calnexin Under Inflammatory Conditions.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 646)
  AUTHORS   Mohammad S, Hutchinson KA, da Silva DF, Bhattacharjee J, McInnis K,
            Burger D and Adamo KB.
  TITLE     Circulating small extracellular vesicles increase after an acute
            bout of moderate-intensity exercise in pregnant compared to
            non-pregnant women
  JOURNAL   Sci Rep 11 (1), 12615 (2021)
   PUBMED   34135428
  REMARK    GeneRIF: Circulating small extracellular vesicles increase after an
            acute bout of moderate-intensity exercise in pregnant compared to
            non-pregnant women.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 646)
  AUTHORS   Tanikawa Y, Kanemura S, Ito D, Lin Y, Matsusaki M, Kuroki K,
            Yamaguchi H, Maenaka K, Lee YH, Inaba K and Okumura M.
  TITLE     Ca2+ Regulates ERp57-Calnexin Complex Formation
  JOURNAL   Molecules 26 (10), 2853 (2021)
   PUBMED   34064874
  REMARK    GeneRIF: Ca(2+) Regulates ERp57-Calnexin Complex Formation.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 646)
  AUTHORS   Lenter M and Vestweber D.
  TITLE     The integrin chains beta 1 and alpha 6 associate with the chaperone
            calnexin prior to integrin assembly
  JOURNAL   J Biol Chem 269 (16), 12263-12268 (1994)
   PUBMED   8163531
REFERENCE   7  (residues 1 to 646)
  AUTHORS   Tjoelker LW, Seyfried CE, Eddy RL Jr, Byers MG, Shows TB, Calderon
            J, Schreiber RB and Gray PW.
  TITLE     Human, mouse, and rat calnexin cDNA cloning: identification of
            potential calcium binding motifs and gene localization to human
            chromosome 5
  JOURNAL   Biochemistry 33 (11), 3229-3236 (1994)
   PUBMED   8136357
REFERENCE   8  (residues 1 to 646)
  AUTHORS   Honore B, Rasmussen HH, Celis A, Leffers H, Madsen P and Celis JE.
  TITLE     The molecular chaperones HSP28, GRP78, endoplasmin, and calnexin
            exhibit strikingly different levels in quiescent keratinocytes as
            compared to their proliferating normal and transformed
            counterparts: cDNA cloning and expression of calnexin
  JOURNAL   Electrophoresis 15 (3-4), 482-490 (1994)
   PUBMED   8055875
REFERENCE   9  (residues 1 to 646)
  AUTHORS   Rasmussen HH, van Damme J, Puype M, Gesser B, Celis JE and
            Vandekerckhove J.
  TITLE     Microsequences of 145 proteins recorded in the two-dimensional gel
            protein database of normal human epidermal keratinocytes
  JOURNAL   Electrophoresis 13 (12), 960-969 (1992)
   PUBMED   1286667
REFERENCE   10 (residues 1 to 646)
  AUTHORS   Galvin K, Krishna S, Ponchel F, Frohlich M, Cummings DE, Carlson R,
            Wands JR, Isselbacher KJ, Pillai S and Ozturk M.
  TITLE     The major histocompatibility complex class I antigen-binding
            protein p88 is the product of the calnexin gene
  JOURNAL   Proc Natl Acad Sci U S A 89 (18), 8452-8456 (1992)
   PUBMED   1326756
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC113426.2.
            
            Summary: This gene encodes a member of the calnexin family of
            molecular chaperones. The encoded protein is a calcium-binding,
            endoplasmic reticulum (ER)-associated protein that interacts
            transiently with newly synthesized N-linked glycoproteins,
            facilitating protein folding and assembly. It may also play a
            central role in the quality control of protein folding by retaining
            incorrectly folded protein subunits within the ER for degradation.
            Alternatively spliced transcript variants encoding different
            isoforms have been described. [provided by RefSeq, Jun 2018].
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (a).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.238525.1,
                                           SRR1163655.132369.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..646
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     Protein         1..646
                     /product="calnexin isoform a"
                     /note="major histocompatibility complex class I
                     antigen-binding protein p88; epididymis secretory sperm
                     binding protein"
                     /calculated_mol_wt=73279
     Region          125..494
                     /region_name="Calreticulin"
                     /note="Calreticulin family; pfam00262"
                     /db_xref="CDD:425564"
     CDS             1..646
                     /gene="CANX"
                     /gene_synonym="CNX; IP90; P90"
                     /coded_by="NM_001363993.1:212..2152"
                     /note="isoform a is encoded by transcript variant 3"
                     /db_xref="GeneID:821"
                     /db_xref="HGNC:HGNC:1473"
                     /db_xref="MIM:114217"
ORIGIN      
        1 myqkentqwl rnlavtapil easnpvgegq gvksrkapes sskcisfhtg gleimegkwl
       61 lcmllvlgta iveahdghdd dvidieddld dvieevedsk pdttappssp kvtykapvpt
      121 gevyfadsfd rgtlsgwils kakkddtdde iakydgkwev eemkesklpg dkglvlmsra
      181 khhaisakln kpflfdtkpl ivqyevnfqn giecggayvk llsktpelnl dqfhdktpyt
      241 imfgpdkcge dyklhfifrh knpktgiyee khakrpdadl ktyftdkkth lytlilnpdn
      301 sfeilvdqsv vnsgnllndm tppvnpsrei edpedrkped wderpkipdp eavkpddwde
      361 dapakipdee atkpegwldd epeyvpdpda ekpedwdedm dgeweapqia nprcesapgc
      421 gvwqrpvidn pnykgkwkpp midnpsyqgi wkprkipnpd ffedlepfrm tpfsaiglel
      481 wsmtsdiffd nfiicadrri vddwandgwg lkkaadgaae pgvvgqmiea aeerpwlwvv
      541 yiltvalpvf lvilfccsgk kqtsgmeykk tdapqpdvke eeeekeeekd kgdeeeegee
      601 kleekqksda eedggtvsqe eedrkpkaee deilnrsprn rkprre
//
LOCUS       NP_001164608             658 aa            linear   PRI 15-MAR-2023
DEFINITION  spermatid perinuclear RNA-binding protein isoform 2 [Homo sapiens].
ACCESSION   NP_001164608
VERSION     NP_001164608.1
DBSOURCE    REFSEQ: accession NM_001171137.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 658)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 658)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   3  (residues 1 to 658)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   4  (residues 1 to 658)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   5  (residues 1 to 658)
  AUTHORS   Salemi M, La Vignera S, Castiglione R, Condorelli RA, Cimino L,
            Bosco P, Romano C, Romano C and Calogero AE.
  TITLE     Expression of STRBP mRNA in patients with cryptorchidism and Down's
            syndrome
  JOURNAL   J Endocrinol Invest 35 (1), 5-7 (2012)
   PUBMED   22391137
  REMARK    GeneRIF: Low STRBP mRNA is associated with cryptorchidism and
            Down's syndrome.
REFERENCE   6  (residues 1 to 658)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   7  (residues 1 to 658)
  AUTHORS   Coolidge CJ and Patton JG.
  TITLE     A new double-stranded RNA-binding protein that interacts with PKR
  JOURNAL   Nucleic Acids Res 28 (6), 1407-1417 (2000)
   PUBMED   10684936
REFERENCE   8  (residues 1 to 658)
  AUTHORS   Schumacher JM, Artzt K and Braun RE.
  TITLE     Spermatid perinuclear ribonucleic acid-binding protein binds
            microtubules in vitro and associates with abnormal manchettes in
            vivo in mice
  JOURNAL   Biol Reprod 59 (1), 69-76 (1998)
   PUBMED   9674995
REFERENCE   9  (residues 1 to 658)
  AUTHORS   Schumacher JM, Lee K, Edelhoff S and Braun RE.
  TITLE     Spnr, a murine RNA-binding protein that is localized to cytoplasmic
            microtubules
  JOURNAL   J Cell Biol 129 (4), 1023-1032 (1995)
   PUBMED   7744952
REFERENCE   10 (residues 1 to 658)
  AUTHORS   Kao PN, Chen L, Brock G, Ng J, Kenny J, Smith AJ and Corthesy B.
  TITLE     Cloning and expression of cyclosporin A- and FK506-sensitive
            nuclear factor of activated T-cells: NF45 and NF90
  JOURNAL   J Biol Chem 269 (32), 20691-20699 (1994)
   PUBMED   7519613
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL365504.33, AL136866.1, BC002693.2 and AL365338.17.
            
            Transcript Variant: This variant (2) lacks an exon in the 5' UTR
            but has a downstream additional exon, which results in a downstream
            in-frame AUG start codon, as compared to variant 1. The resulting
            isoform (2) is shorter than isoform 1 at the N-terminus.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR3476690.704721.1, SRR1660807.162008.1
                                    [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..658
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3"
     Protein         1..658
                     /product="spermatid perinuclear RNA-binding protein
                     isoform 2"
                     /note="epididymis luminal protein 162; epididymis
                     secretory sperm binding protein"
                     /calculated_mol_wt=71836
     Region          67..320
                     /region_name="DZF"
                     /note="domain in DSRM or ZnF_C2H2 domain containing
                     proteins; smart00572"
                     /db_xref="CDD:128842"
     Region          370..453
                     /region_name="DSRM_STRBP_rpt1"
                     /note="first double-stranded RNA binding motif of
                     spermatid perinuclear RNA-binding protein (STRBP) and
                     similar proteins; cd19909"
                     /db_xref="CDD:380738"
     Site            order(375,378..379,382..383,385,399..400,402,404,421..423,
                     426)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:380738"
     Region          498..561
                     /region_name="DSRM_STRBP_rpt2"
                     /note="second double-stranded RNA binding motif of
                     spermatid perinuclear RNA-binding protein (STRBP) and
                     similar proteins; cd19911"
                     /db_xref="CDD:380740"
     Site            order(499,501..502,505,518,521..523,527,543..546)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:380740"
     CDS             1..658
                     /gene="STRBP"
                     /gene_synonym="HEL162; ILF3L; p74; SPNR"
                     /coded_by="NM_001171137.2:466..2442"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS55337.1"
                     /db_xref="GeneID:55342"
                     /db_xref="HGNC:HGNC:16462"
                     /db_xref="MIM:611138"
ORIGIN      
        1 mvkhstiyps peeleavqnm vstvecalkh vsdwldetnk gtktegetev kkdeagenys
       61 kdqggrtlcg vmriglvakg llikddmdle lvlmckdkpt etllntvkdn lpiqiqklte
      121 ekyqveqcvn easiiirntk eptltlkvil tsplirdele kkdgenvsmk dppdlldrqk
      181 clnalaslrh akwfqarang lkscvivlri lrdlcnrvpt waplkgwple liceksigtc
      241 nrplgageal rrvmeclasg illpggpglh dpcerdptda lsymtiqqke dithsaqhal
      301 rlsafgqiyk vlemdplpss kpfqkyswsv tdkegagssa lkrpfedglg ddkdpnkkmk
      361 rnlrkildsk aidlmnalmr lnqirpglqy kllsqsgpvh apvftmsvdv dgttyeasgp
      421 skktaklhva vkvlqamgyp tgfdadiecm ssdeksdnes knetvssnss nntgnsttet
      481 sstlevrtqg piltasgknp vmelnekrrg lkyelisetg gshdkrfvme vevdgqkfrg
      541 agpnkkvaka saalaalekl fsgpnaannk kkkiipqakg vvntavsaav qavrgrgrgt
      601 ltrgafvgat aapgyiapgy gtpygystaa payglpkrmv llpvmkfpty pvphysff
//
LOCUS       NP_001129481              61 aa            linear   PRI 18-MAR-2023
DEFINITION  FXYD domain-containing ion transport regulator 3 isoform 5
            precursor [Homo sapiens].
ACCESSION   NP_001129481
VERSION     NP_001129481.1
DBSOURCE    REFSEQ: accession NM_001136009.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 61)
  AUTHORS   Yang W, He R, Qu H, Lian W, Xue Y, Wang T, Lin W, Zhu P, Xia M, Lai
            L and Wang Q.
  TITLE     FXYD3 enhances IL-17A signaling to promote psoriasis by
            competitively binding TRAF3 in keratinocytes
  JOURNAL   Cell Mol Immunol 20 (3), 292-304 (2023)
   PUBMED   36693922
  REMARK    GeneRIF: FXYD3 enhances IL-17A signaling to promote psoriasis by
            competitively binding TRAF3 in keratinocytes.
REFERENCE   2  (residues 1 to 61)
  AUTHORS   Cano Portillo C, Villacreses R, Thurman AL, Pezzulo AA, Zabner J
            and Thornell IM.
  TITLE     FXYD3 facilitates Na+ and liquid absorption across human airway
            epithelia by increasing the transport capacity of the Na/K ATPase
  JOURNAL   Am J Physiol Cell Physiol 323 (4), C1044-C1051 (2022)
   PUBMED   35993520
  REMARK    GeneRIF: FXYD3 facilitates Na(+) and liquid absorption across human
            airway epithelia by increasing the transport capacity of the Na/K
            ATPase.
REFERENCE   3  (residues 1 to 61)
  AUTHORS   Plain F, Howie J, Kennedy J, Brown E, Shattock MJ, Fraser NJ and
            Fuller W.
  TITLE     Control of protein palmitoylation by regulating substrate
            recruitment to a zDHHC-protein acyltransferase
  JOURNAL   Commun Biol 3 (1), 411 (2020)
   PUBMED   32737405
  REMARK    GeneRIF: Control of protein palmitoylation by regulating substrate
            recruitment to a zDHHC-protein acyltransferase.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 61)
  AUTHORS   O'Donnell AM, Nakamura H, Tomuschat C, Marayati NF and Puri P.
  TITLE     Abnormal Scn1b and Fxyd1 gene expression in the pulled-through
            ganglionic colon may influence functional outcome in patients with
            Hirschsprung's disease
  JOURNAL   Pediatr Surg Int 35 (1), 9-14 (2019)
   PUBMED   30386899
  REMARK    GeneRIF: Scn1b and Fxyd1 expression was significantly downregulated
            in HSCR colon.
REFERENCE   5  (residues 1 to 61)
  AUTHORS   Liu CC, Teh R, Mozar CA, Baxter RC and Rasmussen HH.
  TITLE     Silencing overexpression of FXYD3 protein in breast cancer cells
            amplifies effects of doxorubicin and gamma-radiation on
            Na(+)/K(+)-ATPase and cell survival
  JOURNAL   Breast Cancer Res Treat 155 (2), 203-213 (2016)
   PUBMED   26740212
  REMARK    GeneRIF: Suppression of FXYD3 in MCF-7.
REFERENCE   6  (residues 1 to 61)
  AUTHORS   Crowell KJ, Franzin CM, Koltay A, Lee S, Lucchese AM, Snyder BC and
            Marassi FM.
  TITLE     Expression and characterization of the FXYD ion transport
            regulators for NMR structural studies in lipid micelles and lipid
            bilayers
  JOURNAL   Biochim Biophys Acta 1645 (1), 15-21 (2003)
   PUBMED   12535606
  REMARK    GeneRIF: molecular cloning, protein expression, sequencing and NMR
            structure determination
REFERENCE   7  (residues 1 to 61)
  AUTHORS   Sweadner KJ and Rael E.
  TITLE     The FXYD gene family of small ion transport regulators or channels:
            cDNA sequence, protein signature sequence, and expression
  JOURNAL   Genomics 68 (1), 41-56 (2000)
   PUBMED   10950925
REFERENCE   8  (residues 1 to 61)
  AUTHORS   van Groningen JJ, Bloemers HP and Swart GW.
  TITLE     Identification of melanoma inhibitory activity and other
            differentially expressed messenger RNAs in human melanoma cell
            lines with different metastatic capacity by messenger RNA
            differential display
  JOURNAL   Cancer Res 55 (24), 6237-6243 (1995)
   PUBMED   8521420
REFERENCE   9  (residues 1 to 61)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   10 (residues 1 to 61)
  AUTHORS   Morrison BW, Moorman JR, Kowdley GC, Kobayashi YM, Jones LR and
            Leder P.
  TITLE     Mat-8, a novel phospholemman-like protein expressed in human breast
            tumors, induces a chloride conductance in Xenopus oocytes
  JOURNAL   J Biol Chem 270 (5), 2176-2182 (1995)
   PUBMED   7836447
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020907.6, BQ682674.1,
            AK311689.1, DB202948.1 and DA438143.1.
            
            Summary: This gene belongs to a small family of FXYD-domain
            containing regulators of Na+/K+ ATPases which share a 35-amino acid
            signature sequence domain, beginning with the sequence PFXYD, and
            containing 7 invariant and 6 highly conserved amino acids. This
            gene encodes a cell membrane protein that may regulate the function
            of ion-pumps and ion-channels. This gene may also play a role in
            tumor progression. Alternative splicing results in multiple
            transcript variants encoding distinct isoforms.[provided by RefSeq,
            Oct 2008].
            
            Transcript Variant: This variant (5) has multiple differences in
            the coding region and 3' UTR, compared to variant 3. These
            differences result in translation initiation from a downstream
            in-frame ATG and an isoform (5) with a shorter N-terminus and
            shorter distinct C-terminus when compared to isoform 3. Variants 5
            and 6 encode the same isoform (5).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AK311689.1, DA454066.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1968540, SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..61
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     Protein         1..61
                     /product="FXYD domain-containing ion transport regulator 3
                     isoform 5 precursor"
                     /note="phospholemman-like protein;
                     sodium/potassium-transporting ATPase subunit FXYD3;
                     mammary tumor 8 kDa protein; chloride conductance inducer
                     protein Mat-8"
                     /calculated_mol_wt=4603
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2133
     mat_peptide     21..61
                     /product="FXYD domain-containing ion transport regulator 3
                     isoform 5"
                     /calculated_mol_wt=4603
     CDS             1..61
                     /gene="FXYD3"
                     /gene_synonym="MAT8; PLML"
                     /coded_by="NM_001136009.2:332..517"
                     /note="isoform 5 precursor is encoded by transcript
                     variant 5"
                     /db_xref="CCDS:CCDS46050.1"
                     /db_xref="GeneID:5349"
                     /db_xref="HGNC:HGNC:4027"
                     /db_xref="MIM:604996"
ORIGIN      
        1 mqkvtlgllv flagfpvlda ndledknspf yygespcpls pphnptyclv prvpiqgwgl
       61 t
//
LOCUS       XP_047300232             478 aa            linear   PRI 20-MAR-2023
DEFINITION  afadin- and alpha-actinin-binding protein isoform X10 [Homo
            sapiens].
ACCESSION   XP_047300232
VERSION     XP_047300232.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444276.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 11% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..478
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..478
                     /product="afadin- and alpha-actinin-binding protein
                     isoform X10"
                     /calculated_mol_wt=56416
     Region          36..187
                     /region_name="ADIP"
                     /note="Afadin- and alpha -actinin-Binding; pfam11559"
                     /db_xref="CDD:431934"
     Region          <99..370
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..478
                     /gene="SSX2IP"
                     /gene_synonym="ADIP; hMsd1"
                     /coded_by="XM_047444276.1:347..1783"
                     /db_xref="GeneID:117178"
                     /db_xref="HGNC:HGNC:16509"
                     /db_xref="MIM:608690"
ORIGIN      
        1 mspsslysqq vlcssiplsk nvhsffsafc tednieqsis yldqelttfg fpslyeeskg
       61 ketkrelniv avlncmnell vlqrknllaq envetqnlkl gsdmdhlqsc ysklkeqlet
      121 srremiglqe rdrqlqcknr nlhqllknek devqklqnii asratqynhd mkrkereynk
      181 lkerlhqlvm nkkdkkiamd ilnyvgradg krgswrtgkt earnedemyk illndyeyrq
      241 kqilmenael kkvlqqmkke misllspqkk kprervddst gtvisdveed agelsresmw
      301 dlscetvreq ltnsirkqwr ilkshvekld nqvskvhleg fndedvisrq dheqetekle
      361 leiqqckemi ktqqqllqql ataydddtts llrdcyllee kerlkeewsl fkeqkknfer
      421 errsfteaai rlglerkafe eeraswlkqq flnmttfdhq nsenvklfsa fsgiqsmy
//
LOCUS       XP_016857797             115 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 28B isoform X3 [Homo
            sapiens].
ACCESSION   XP_016857797
VERSION     XP_016857797.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002308.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..115
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..115
                     /product="coiled-coil domain-containing protein 28B
                     isoform X3"
                     /calculated_mol_wt=12176
     Region          86..>110
                     /region_name="DUF4061"
                     /note="Domain of unknown function (DUF4061); pfam13270"
                     /db_xref="CDD:433073"
     CDS             1..115
                     /gene="CCDC28B"
                     /coded_by="XM_017002308.3:139..486"
                     /db_xref="GeneID:79140"
                     /db_xref="HGNC:HGNC:28163"
                     /db_xref="MIM:610162"
ORIGIN      
        1 mddkkkkrsp kpclaqpaqa pgtlrrvpvp tshsgslalg lphlpspkqr akfkrvgkek
       61 crpvlagggs gsagtplqhs fltevtdvye meggllnlln dfhsgrlqaf agrpq
//
LOCUS       XP_047283553             762 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor E2F8 isoform X1 [Homo sapiens].
ACCESSION   XP_047283553
VERSION     XP_047283553.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427597.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..762
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..762
                     /product="transcription factor E2F8 isoform X1"
                     /calculated_mol_wt=81685
     Region          157..242
                     /region_name="E2F_TDP"
                     /note="E2F/DP family winged-helix DNA-binding domain;
                     pfam02319"
                     /db_xref="CDD:426717"
     Region          <359..595
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..762
                     /gene="E2F8"
                     /gene_synonym="E2F-8"
                     /coded_by="XM_047427597.1:324..2612"
                     /db_xref="GeneID:79733"
                     /db_xref="HGNC:HGNC:24727"
                     /db_xref="MIM:612047"
ORIGIN      
        1 menekenlfc ephkrglmkt plkesttani vlaeiqpdfg plttptkpke gsqgepwtpt
       61 anlkmlisav speirnrdqk rglfdnrsgl peakdciheh lsgdefeksq psrkekslgl
      121 lchkflaryp nypnpavnnd icldevaeel tsvnsrkdks lrvmsqkfvm lflvstpqiv
      181 slevaakili gedhvedldk skfktkirrl ydianvlssl dlikkvhvte ergrkpafkw
      241 tgpeispnts gsspvihftp sdlevrrssk encaknlfst rgkpnftrhp sliklvksie
      301 sdrrkinsap sspiktnkae ssqnsapfps kmaqlaaick mqleeqsses rqkvkvqlar
      361 sgpckpvapl dppvnaemel tapsliqplg mvplipspls savplilpqa psgpsyaiyl
      421 qptqahqsvt ppqglsptvc tthsskatgs kdstdattek aandtskasa strpgsllpa
      481 perqgaksrt repagergsk rasmledsgs kkkfkedlkg lenvsatlfp sgylipltqc
      541 sslgaesils gkenssalsp nhriysspia gvipvtssel tavnfpsfhv tplklmvspt
      601 svaavpvgns palasshpvp iqnpssaivn ftlqhlglis pnvqlsaspg sgivpvspri
      661 esvnvapena gtqqgratny dspvpgqsqp ngqsvavtga qqpvpvtpkg sqlvaesffr
      721 tpggptkpts sscmdfegan ktslgtlfvp qrklevsted vh
//
LOCUS       XP_011522839             552 aa            linear   PRI 20-MAR-2023
DEFINITION  arylsulfatase G isoform X1 [Homo sapiens].
ACCESSION   XP_011522839
VERSION     XP_011522839.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011524537.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..552
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..552
                     /product="arylsulfatase G isoform X1"
                     /calculated_mol_wt=59686
     Region          35..496
                     /region_name="ARSG"
                     /note="arylsulfatase G; cd16161"
                     /db_xref="CDD:293780"
     Site            order(44..45,84,137,139,162,251,302..303,333..334)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:293780"
     Site            order(84,137,139,162,251,333..334)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:293780"
     CDS             1..552
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /coded_by="XM_011524537.2:710..2368"
                     /db_xref="GeneID:22901"
                     /db_xref="HGNC:HGNC:24102"
                     /db_xref="MIM:610008"
ORIGIN      
        1 mgwlflkvll agvsfsgfly plvdfcisgk trgqkpnfvi iladdmgwgd lganwaetkd
       61 tanldkmase gmrfvdfhaa astcspsras lltgrlglrn gvtrnfavts vgglplnett
      121 laevlqqagy vtgiigkwhl ghhgsyhpnf rgfdyyfgip yshdmgctdt pgynhppcpa
      181 cpqgdgpsrn lqrdcytdva lplyenlniv eqpvnlssla qkyaekatqf iqrastsgrp
      241 fllyvalahm hvplpvtqlp aaprgrslyg aglwemdslv gqikdkvdht vkentflwft
      301 gdngpwaqkc elagsvgpft gfwqtrqggs pakqttwegg hrvpalaywp grvpvnvtst
      361 allsvldifp tvvalaqasl pqgrrfdgvd vsevlfgrsq pghreeeagg gkeaegaqsp
      421 lcnalqmhgf lvlfhpnsga agefgalqtv rlerykafyi tggaracdgs tgpelqhkfp
      481 lifnleddta eavplergga eyqavlpevr kvladvlqdi andnissady tqdpsvtpcc
      541 npyqiacrcq aa
//
LOCUS       XP_047300457             194 aa            linear   PRI 20-MAR-2023
DEFINITION  septin-2 isoform X5 [Homo sapiens].
ACCESSION   XP_047300457
VERSION     XP_047300457.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444501.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..194
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..194
                     /product="septin-2 isoform X5"
                     /calculated_mol_wt=22448
     CDS             1..194
                     /gene="SEPTIN2"
                     /gene_synonym="DIFF6; hNedd5; NEDD-5; NEDD5; Pnutl3;
                     SEPT2"
                     /coded_by="XM_047444501.1:483..1067"
                     /db_xref="GeneID:4735"
                     /db_xref="HGNC:HGNC:7729"
                     /db_xref="MIM:601506"
ORIGIN      
        1 mkaihnkvni vpviakadtl tlkererlkk rildeieehn ikiyhlpdae sdededfkeq
       61 trllkasipf svvgsnqlie akgkkvrgrl ypwgvveven pehndflklr tmlithmqdl
      121 qevtqdlhye nfrserlkrg grkvenedmn kdqillekea elrrmqemia rmqaqmqmqm
      181 qggdgdggal ghhv
//
LOCUS       XP_024308859             888 aa            linear   PRI 20-MAR-2023
DEFINITION  thyroid peroxidase isoform X6 [Homo sapiens].
ACCESSION   XP_024308859
VERSION     XP_024308859.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453091.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..888
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..888
                     /product="thyroid peroxidase isoform X6"
                     /calculated_mol_wt=97972
     Region          179..689
                     /region_name="thyroid_peroxidase"
                     /note="Thyroid peroxidase (TPO); cd09825"
                     /db_xref="CDD:188657"
     Site            order(329,548,551)
                     /site_type="other"
                     /note="putative homodimer interface [polypeptide binding]"
                     /db_xref="CDD:188657"
     Site            order(333,337,339)
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:188657"
     Site            order(408,411,499,502..503,506,509,535)
                     /site_type="other"
                     /note="heme binding site [chemical binding]"
                     /db_xref="CDD:188657"
     Site            order(462,465..466,470,498,502,504,604,608,612..613,
                     616..617,620)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:188657"
     Region          697..750
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(707,724)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          751..794
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(751,754,771)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     CDS             1..888
                     /gene="TPO"
                     /gene_synonym="MSA; TDH2A; TPX"
                     /coded_by="XM_024453091.2:227..2893"
                     /db_xref="GeneID:7173"
                     /db_xref="HGNC:HGNC:12015"
                     /db_xref="MIM:606765"
ORIGIN      
        1 msavcndlrw nimralavls vtlvmactea ffpfisrgke llwgkpeesr vssvleeskr
       61 lvdtamyatm qrnlkkrgil spaqllsfsk lpeptsgvia raaeimetsi qamkrkvnlk
      121 tqqsqhptda lsedllsiia nmsgclpyml ppkcpntcla nkyrpitgac nnrdhprwga
      181 sntalarwlp pvyedgfsqp rgwnpgflyn gfplppvrev trhviqvsne vvtdddrysd
      241 llmawgqyid hdiaftpqst skaafgggad cqmtcenqnp cfpiqlpeea rpaagtaclp
      301 fyrssaacgt gdqgalfgnl stanprqqmn gltsfldast vygsspaler qlrnwtsaeg
      361 llrvharlrd sgraylpfvp prapaacape pgipgetrgp cflagdgras evpsltalht
      421 lwlrehnrla aalkalnahw sadavyqear kvvgalhqii tlrdyipril gpeafqqyvg
      481 pyegydstan ptvsnvfsta afrfghatih plvrrldasf qehpdlpglw lhqaffspwt
      541 llrggynewr efcglprlet padlstaias rsvadkildl ykhpdnidvw lgglaenflp
      601 rartgplfac ligkqmkalr dgdwfwwens hvftdaqrre lekhslsrvi cdntgltrvp
      661 mdafqvgkfp edfescdsit gmnleawret fpqddkcgfp esvengdfvh ceesgrrvlv
      721 yscrhgyelq greqltctqe gwdfqpplck dvnecadgah ppchasarcr ntkggfqclc
      781 adpyelgddg rtcvdsgrlp rvtwismsla alliggfagl tstvicrwtr tgtkstlpis
      841 etgggtpelr cgkhqavgts pqraaaqdse qesagmegrd thrlpral
//
LOCUS       XP_011510173            1066 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 21B isoform X3 [Homo sapiens].
ACCESSION   XP_011510173
VERSION     XP_011510173.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011511871.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1066
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1066
                     /product="tetratricopeptide repeat protein 21B isoform X3"
                     /calculated_mol_wt=121989
     Region          63..799
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     Site            order(246..247,250..251,253,277,280..281,284..285,
                     287..288,314,317..318,321..322,325)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          246..270
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          275..305
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          313..341
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          438..467
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          472..500
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(473,476..477,480..481,483,507,510..511,514..515,
                     517..518,540,543..544,547..548,551)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          505..535
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          540..567
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          581..609
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          634..662
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(635,638..639,642..643,645,669,672..673,676..677,
                     679..680,703,706..707,710..711,714)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          667..697
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          702..730
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          773..801
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          909..935
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(948,951..952,955..956,958,982,985..986,989..990,
                     992..993,1017,1020..1021,1024..1025,1028)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          948..975
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          980..1010
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1016..1044
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..1066
                     /gene="TTC21B"
                     /gene_synonym="ATD4; CFAP60; FAP60; FLA17; IFT139;
                     IFT139B; JBTS11; Nbla10696; NPHP12; SRTD4; THM1"
                     /coded_by="XM_011511871.4:4132..7332"
                     /db_xref="GeneID:79809"
                     /db_xref="HGNC:HGNC:25660"
                     /db_xref="MIM:612014"
ORIGIN      
        1 mqalyyvcre gdiekastkl enlgntldam epqnaqlfyn itlafsrtcg rsqlilqkiq
       61 tllerafsln pqqsefatel gyqmilqgrv kealkwykta mtldetsvsa lvgfiqcqli
      121 egqlqdadqq leflneiqqs igksaeliyl havlamkknk rqeevinlln dvldthfsql
      181 eglplgiqyf eklnpdflle ivmeylsfcp mqpaspgqpl cpllrrcisv letvvrtvpg
      241 llqtvfliak vkylsgdiea afnnlqhcle hnpsyadahl llaqvylsqe kvklcsqsle
      301 lclsydfkvr dyplyhlika qsqkkmgeia daiktlhmam slpgmkriga stkskdrkte
      361 vdtshrlsif lelidvhrln geqheatkvl qdaihefsgt seevrvtian adlalaqgdi
      421 eralsilqnv taeqpyfiea rekmadiylk hrkdkmlyit cfreiaerma nprsflllgd
      481 aymnilepee aivayeqaln qnpkdgtlas kmgkalikth nysmaityye aalktgqkny
      541 lcydlaelll klkwydkaek vlqhalahep vnelsalmed grcqvllakv yskmeklgda
      601 italqqarel qarvlkrvqm eqpdavpaqk hlaaeicaei akhsvaqrdy ekaikfyrea
      661 lvhcetdnki mlelarlyla qddpdsclrq calllqsdqd neaatmmmad lmfrkqdyeq
      721 avfhlqqlle rkpdnymtls rlidllrrcg kledvprffs maekrnsrak lepgfqyckg
      781 lylwytgepn dalrhfnkar kdrdwgqnal ynmieiclnp dnetvggevf enldgdlgns
      841 tekqesvqla vrtaekllke lkpqtvqghv qlrimenycl matkqksnve qalntfteia
      901 asekehipal lgmataymil kqtprarnql kriakmnwna idaeefeksw llladiyiqs
      961 akydmaedll krclrhnrsc ckayeymgyi mekeqaytda alnyemawky snrtnpavgy
     1021 klafnylkak ryvdsidich qvleahptyp kirkdildka raslrp
//
LOCUS       XP_011528638             926 aa            linear   PRI 20-MAR-2023
DEFINITION  smoothelin isoform X6 [Homo sapiens].
ACCESSION   XP_011528638
VERSION     XP_011528638.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011530336.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..926
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..926
                     /product="smoothelin isoform X6"
                     /calculated_mol_wt=99404
     Region          46..88
                     /region_name="Smoothelin"
                     /note="Smoothelin cytoskeleton protein; pfam12510"
                     /db_xref="CDD:432602"
     Region          127..176
                     /region_name="Smoothelin"
                     /note="Smoothelin cytoskeleton protein; pfam12510"
                     /db_xref="CDD:432602"
     Region          655..704
                     /region_name="Smoothelin"
                     /note="Smoothelin cytoskeleton protein; pfam12510"
                     /db_xref="CDD:432602"
     Region          809..919
                     /region_name="CH_SMTNA"
                     /note="calponin homology (CH) domain found in smoothelin-A
                     and similar proteins; cd21258"
                     /db_xref="CDD:409107"
     Site            order(810,814,864,866..867,870..871,873,882..890,899,
                     901..902,904..905,908..909,912)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409107"
     CDS             1..926
                     /gene="SMTN"
                     /coded_by="XM_011530336.3:145..2925"
                     /db_xref="GeneID:6525"
                     /db_xref="HGNC:HGNC:11126"
                     /db_xref="MIM:602127"
ORIGIN      
        1 mrvhprphsr laaklaglep etpypgfefs elvtgatgtg dltrkeptel gasemadeal
       61 agldegalrk llevtadlae rrrirsaire lqrqeleree ealaskrfra erqdnkenwl
      121 hsqqreaeqr aalarlagql esmndveelt allrsageye erkliraair rvraqeieaa
      181 tlagrlysgr pnsgsredsk glaahrleqc evpereeqeq qaevskptpt pegtsqdvtt
      241 vtlllrappg stssspasps ssptpaspep plepaeaqcl taevpgspep ppsppkttsp
      301 epqesptlps tegqvvnkll sgpketpaaq sptrgpsdtk radvagprpc qrslsvlspr
      361 qpaqnrestp lasgpssfqr agsvrdrvhk ftsdspmaar lqdgtpqaal spltparllg
      421 psltsttpas sssgsssrgp sdtssrfske qrgvaqplaq lrscpqeegp rgrglaarpl
      481 enraggpvar seepgaplpv avgtaepggs mkttftieik dgrgqastgr vllptgnqra
      541 eltlglrapp tllstssggk stitrvnspg tlarlgsvth vtsfshapps srggcsikaa
      601 edagtpvahp pafstrrrss tgttrstslm eaepaeplaa aveaangaeq trvnkapegr
      661 splsaeelmt iedegvldkm ldqstdfeer kliraalrel rqrkrdgsgs tmmqtktfss
      721 sssskkmgsi fdredqaspr agslaalekr qaekkkelmk aqslpktsas qarkamiekl
      781 ekegaagspg gpraavqrst sfgvpnansi kqmlldwcra ktrgyehvdi qnfssswsdg
      841 mafcalvhnf fpeafdygql spqnrrqnfe vafssaemlv dcvplvevdd mmimgkkpdp
      901 kcvftyvqsl ynhlrrhelr lrgknv
//
LOCUS       XP_011510914             805 aa            linear   PRI 20-MAR-2023
DEFINITION  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein
            2 isoform X1 [Homo sapiens].
ACCESSION   XP_011510914
VERSION     XP_011510914.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011512612.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..805
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..805
                     /product="inactive N-acetylated-alpha-linked acidic
                     dipeptidase-like protein 2 isoform X1"
                     /calculated_mol_wt=90025
     Region          268..420
                     /region_name="PA"
                     /note="Protease-associated (PA) domain. The PA domain is
                     an insert domain in a diverse fraction of proteases. The
                     significance of the PA domain to many of the proteins in
                     which it is inserted is undetermined. It may be a
                     protein-protein interaction domain. At...; cl28883"
                     /db_xref="CDD:333703"
     Site            354..356
                     /site_type="other"
                     /note="PA/protease or protease-like domain interface
                     [polypeptide binding]"
                     /db_xref="CDD:238300"
     Region          437..658
                     /region_name="M28_PMSA_TfR_like"
                     /note="M28 Zn-peptidase Transferrin Receptor-like family;
                     cd03874"
                     /db_xref="CDD:349871"
     Site            order(452..453,455,500,502,521..522,524,526..529,655)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:349871"
     Region          678..>744
                     /region_name="TFR_dimer"
                     /note="Transferrin receptor-like dimerization domain;
                     pfam04253"
                     /db_xref="CDD:427820"
     CDS             1..805
                     /gene="NAALADL2"
                     /coded_by="XM_011512612.4:13875..16292"
                     /db_xref="GeneID:254827"
                     /db_xref="HGNC:HGNC:23219"
                     /db_xref="MIM:608806"
ORIGIN      
        1 maldigmrqw meviarrwim kevtgkkmay qkvhadqrap ghsqyldndd lqataldlew
       61 dmekeleesg fdqfqldgae nqnlghseti dlnldsiqpa tspkgrfqrl qeesdyithy
      121 trsapksnrc nfchvlkilc tatilfifgi ligyyvhtnc psdapssgtv dpqlyqeilk
      181 tiqaedikks frnlvqlykn eddmeiskki ktqwtslgle dvqfvnysvl ldlpgpspst
      241 vtlsssgqcf hpngqpcsee arkdssqdll ysyaaysakg tlkaevidvs ygmaddlkri
      301 rkiknvtnqi allklgklpl lyklssleka gfggvllyid pcdlpktvnp shdtfmvsln
      361 pggdpstpgy psvdesfrqs rsnltsllvq pisaplvakl isspkartkn eacsslelpn
      421 neirvvsmqv qtvtklktvt nvvgfvmglt spdryiivgs hhhtahsyng qewasstaii
      481 tafiralmsk vkrgwrpdrt ivfcswggta fgnigsyewg edfkkvlqkn vvayislhsp
      541 irgnsslypv aspslqqlvv eknnfnctrr aqcpetniss iqiqgdadyf inhlgvpivq
      601 fayediktle gpsflsearf stratkieem dpsfnlheti tklsgevilq ianepvlpfn
      661 aldialevqn nlkgdqpnth qllamalrlr esaelfqsde mrpandpker apirirmlnd
      721 ilqdmeksfl vkqappgfyr nilyhldekt srfsilieaw ehckplasne tlqealsevl
      781 nsinsaqvyf kagldvfksv ldgkn
//
LOCUS       XP_047304020             118 aa            linear   PRI 20-MAR-2023
DEFINITION  eukaryotic translation initiation factor 4E type 3 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047304020
VERSION     XP_047304020.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448064.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..118
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..118
                     /product="eukaryotic translation initiation factor 4E type
                     3 isoform X4"
                     /calculated_mol_wt=13202
     Region          <6..92
                     /region_name="IF4E"
                     /note="Eukaryotic initiation factor 4E; pfam01652"
                     /db_xref="CDD:426366"
     CDS             1..118
                     /gene="EIF4E3"
                     /gene_synonym="eIF-4E3; eIF4E-3"
                     /coded_by="XM_047448064.1:452..808"
                     /db_xref="GeneID:317649"
                     /db_xref="HGNC:HGNC:31837"
                     /db_xref="MIM:609896"
ORIGIN      
        1 mrgerrplwe eesnakggvw kmkvpkdsts tvwkelllat igeqftdcaa addevigvsv
       61 svrdredvvq vwnvnaslvg eatvlekiye llphitfkav fykpheehha feggrgkh
//
LOCUS       XP_011542000              63 aa            linear   PRI 20-MAR-2023
DEFINITION  thymic stromal lymphopoietin isoform X3 [Homo sapiens].
ACCESSION   XP_011542000
VERSION     XP_011542000.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011543698.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..63
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..63
                     /product="thymic stromal lymphopoietin isoform X3"
                     /calculated_mol_wt=7295
     Region          <1..57
                     /region_name="TSLP"
                     /note="Thymic stromal lymphopoietin; pfam15216"
                     /db_xref="CDD:434543"
     CDS             1..63
                     /gene="TSLP"
                     /coded_by="XM_011543698.2:92..283"
                     /db_xref="GeneID:85480"
                     /db_xref="HGNC:HGNC:30743"
                     /db_xref="MIM:607003"
ORIGIN      
        1 mfamktkaal aiwcpgyset qinatqamkk rrkrkvttnk cleqvsqlqg lwrrfnrpll
       61 kqq
//
LOCUS       XP_016867752             549 aa            linear   PRI 20-MAR-2023
DEFINITION  carbohydrate-responsive element-binding protein isoform X10 [Homo
            sapiens].
ACCESSION   XP_016867752
VERSION     XP_016867752.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017012263.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..549
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..549
                     /product="carbohydrate-responsive element-binding protein
                     isoform X10"
                     /calculated_mol_wt=58825
     Region          <138..332
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     Region          343..418
                     /region_name="bHLHzip_MLXIPL"
                     /note="basic Helix-Loop-Helix-zipper (bHLHzip) domain
                     found in MLX-interacting protein-like (MLXIPL) and similar
                     proteins; cd19689"
                     /db_xref="CDD:381532"
     Site            order(348,350..352,354..356,358..359,363,385..386)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381532"
     Site            order(362,365..366,368..369,372..374,387,390..391,394,
                     396..398,400..401,403..404,407,410..411,414..415,417..418)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381532"
     CDS             1..549
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /coded_by="XM_017012263.2:154..1803"
                     /db_xref="GeneID:51085"
                     /db_xref="HGNC:HGNC:12744"
                     /db_xref="MIM:605678"
ORIGIN      
        1 mtswtsqppm psnfpeppsf spvvdslfss gtlgpevppa ssamthlsgh srlqarnscp
       61 gpldssafls sdfllpedpk prlppppvpp pllhypppak vpglepcppp pfppmappta
      121 llqeeplfsp rfpfptvppa pgvsplpapa afpptpqsvp spaptpfpie llplgysepa
      181 fgpcfsmprg kppapsprgq kaspptlapa tasppttags nnpcltqllt aakpeqalep
      241 plvsstllrs pgspqetvpe fpctflpptp aptpprpppg patlapsrpl lvpkaerlsp
      301 papsgserrl sgdlssmpgp gtlsvrvspp qpilsrgrpd snktenrrit hisaeqkrrf
      361 niklgfdtlh glvstlsaqp slkvskattl qktaeyilml qqeraglqee aqqlrdeiee
      421 lnaainlcqq qlpatgvpit hqrfdqmrdm fddyvrtrtl hnwkfwvfsi lirplfesfn
      481 gmvstasvht lrqtslawld qycslpalrp tvlnslrqlg tstsiltdpg ripeqatrav
      541 tegtlgkpl
//
LOCUS       XP_016870456            1928 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase delta isoform X7 [Homo
            sapiens].
ACCESSION   XP_016870456
VERSION     XP_016870456.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014967.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1928
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1928
                     /product="receptor-type tyrosine-protein phosphatase delta
                     isoform X7"
                     /calculated_mol_wt=216092
     Region          24..115
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          41..45
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          54..58
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          77..84
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          95..100
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          108..111
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          127..226
                     /region_name="IgI_2_RPTP_IIa_LAR_like"
                     /note="Second immunoglobulin (Ig)-like domain of the
                     receptor protein tyrosine phosphatase (RPTP)-F; member of
                     the I-set of IgSF domains; cd05738"
                     /db_xref="CDD:409400"
     Region          127..129
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409400"
     Region          134..138
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409400"
     Region          141..150
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409400"
     Region          155..161
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409400"
     Region          163..165
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409400"
     Region          174..178
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409400"
     Region          190..195
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409400"
     Region          204..211
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409400"
     Region          214..225
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409400"
     Region          235..316
                     /region_name="IgI_3_RPTP_IIa_LAR_like"
                     /note="Third immunoglobulin (Ig)-like domain of the
                     receptor protein tyrosine phosphatase (RPTP)-F (also known
                     as LAR), type IIa; member of the I-set of IgSF domains;
                     cd05739"
                     /db_xref="CDD:409401"
     Region          235..237
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409401"
     Region          241..245
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409401"
     Region          248..256
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409401"
     Region          261..267
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409401"
     Region          269..271
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409401"
     Region          274..278
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409401"
     Region          283..288
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409401"
     Region          295..302
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409401"
     Region          306..315
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409401"
     Region          319..408
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(319,381,396)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(397..398,400..401)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          415..507
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(496..497,499..500)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          512..600
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(512,573,588)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(589..590,592..593)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          608..702
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(691..692,694..695)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          709..815
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(804..805,807..808)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          820..915
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(820,883,898)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(899..900,902,908)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          918..1009
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(998..999,1001..1002)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1019..>1080
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Region          1350..1633
                     /region_name="R-PTPc-D-1"
                     /note="catalytic domain of receptor-type tyrosine-protein
                     phosphatase D, repeat 1; cd14624"
                     /db_xref="CDD:350472"
     Region          1634..1925
                     /region_name="R-PTP-D-2"
                     /note="PTP-like domain of receptor-type tyrosine-protein
                     phosphatase D, repeat 2; cd14628"
                     /db_xref="CDD:350476"
     CDS             1..1928
                     /gene="PTPRD"
                     /gene_synonym="HPTP; HPTPD; HPTPDELTA; PTPD; R-PTP-delta;
                     RPTPDELTA"
                     /coded_by="XM_017014967.3:708..6494"
                     /db_xref="GeneID:5789"
                     /db_xref="HGNC:HGNC:9668"
                     /db_xref="MIM:601598"
ORIGIN      
        1 mvhvarllll lltfflrtda etpprftrtp vdqtgvsggv asficqatgd prpkivwnkk
       61 gkkvsnqrfe viefddgsgs vlriqplrtp rdeaiyecva snnvgeisvs trltvlredq
      121 iprgfptidm gpqlkvvert rtatmlcaas gnpdpeitwf kdflpvdtsn nngrikqlrs
      181 esiggtpirg alqieqsees dqgkyecvat nsagtrysap anlyvrvrrv pprfsipptn
      241 heimpggsvn itcvavgspm pyvkwmlgae dltpeddmpi grnvlelndv rqsanytcva
      301 mstlgvieai aqitvkalpk ppgtpvvtes tatsitltwd sgnpepvsyy iiqhkpknse
      361 elykeidgva ttrysvagls pysdyefrvv avnnigrgpp sepvltqtse qapssaprdv
      421 qarmlsstti lvqwkepeep ngqiqgyrvy ytmdptqhvn nwmkhnvads qittignlvp
      481 qktysvkvla ftsigdgpls sdiqvitqtg vpgqplnfka epesetsill swtpprsdti
      541 anyelvykdg ehgeeqriti epgtsyrlqg lkpnslyyfr laarspqglg astaeisart
      601 mqskpsappq disctspsst silvswqppp vekqngiite ysikytavdg eddkpheilg
      661 ipsdttkyll eqlekwteyr itvtahtdvg pgpeslsvli rtnedvpsgp prkveveavn
      721 stsvkvswrs pvpnkqhgqi rgyqvhyvrm engepkgqpm lkdvmladaq wefddttehd
      781 miisglqpet sysltvtayt tkgdgarskp klvsttgavp gkprlvinht qmntaliqwh
      841 ppvdtfgplq gyrlkfgrkd meplttlefs ekedhftatd ihkgasyvfr lsarnkvgfg
      901 eemvkeisip eevptgfpqn lhsegttsts vqlswqppvl aerngiitky tllyrdinip
      961 llpmeqlivp adttmtltgl kpdttydvkv rahtskgpgp yspsvqfrtl pvdqavfakn
     1021 fhvkavmkts vllsweipen ynsampfkil yddgkmveev dgratqkliv nlkpeksysf
     1081 vltnrgnsag glqhrvtakt apdvlrtkpa figktnldgm itvqlpevpa nenikgyyii
     1141 ivplkksrgk fikpwespde meldellkei srkrrsiryg revelkpyia ahfdvlptef
     1201 tlgddkhygg ftnkqlqsgq eyvffvlavm ehaeskmyat spysdpvvsm dldpqpitde
     1261 eegliwvvgp vlavvfiici viaillykss kpdrkraesd srkssipnnk eipshhptdp
     1321 velrrlnfqt pgsddsgypg nlhsssmash ppipilelad hierlkandn lkfsqeyesi
     1381 dpgqqftweh snlevnkpkn ryanviaydh srvllsaieg ipgsdyvnan yidgyrkqna
     1441 yiatqgslpe tfgdfwrmiw eqrsatvvmm tkleersrvk cdqywpsrgt ethglvqvtl
     1501 ldtvelatyc vrtfalykng ssekrevrqf qftawpdhgv pehptpflaf lrrvktcnpp
     1561 dagpmvvhcs agvgrtgcfi vidamlerik hektvdiygh vtlmraqrny mvqtedqyif
     1621 ihdalleavt cgntevparn lyayiqkltq ietgenvtgm elefkrlass kahtsrfisa
     1681 nlpcnkfknr lvnimpyest rvclqpirgv egsdyinasf idgyrqqkay iatqgplaet
     1741 tedfwrmlwe hnstivvmlt klremgrekc hqywpaersa ryqyfvvdpm aeynmpqyil
     1801 refkvtdard gqsrtvrqfq ftdwpeqgvp ksgegfidfi gqvhktkeqf gqdgpisvhc
     1861 sagvgrtgvf itlsivlerm ryegvvdifq tvkmlrtqrp amvqtedqyq fsyraaleyl
     1921 gsfdhyat
//
LOCUS       XP_016885544             287 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-9 receptor isoform X11 [Homo sapiens].
ACCESSION   XP_016885544
VERSION     XP_016885544.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017030055.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000024.10) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..287
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
     Protein         1..287
                     /product="interleukin-9 receptor isoform X11"
                     /calculated_mol_wt=30591
     CDS             1..287
                     /gene="IL9R"
                     /gene_synonym="CD129; IL-9R"
                     /coded_by="XM_017030055.2:29..892"
                     /db_xref="GeneID:3581"
                     /db_xref="HGNC:HGNC:6030"
                     /db_xref="MIM:300007"
ORIGIN      
        1 mthlvadgks eaqecgshkv lqqvtqtska hhkvlqqvtq tskahhkpst laqgtkgrtf
       61 arvkrifyqn vpspamffqp lysvhngnfq twmgahgagv llsqdcagtp qgalepcvqe
      121 atalltcgpa rpwksvalee eqegpgtrlp gnlssedvlp agctewrvqt laylpqedwa
      181 ptsltrpapp dsegsrssss ssssnnnnyc algcyggwhl salpgntqss gpipalacgl
      241 scdhqgletq qgvawvlagh cqrpglhedl qgmllpsvls karswtf
//
LOCUS       XP_054184962             418 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-1-antitrypsin isoform X1 [Homo sapiens].
ACCESSION   XP_054184962
VERSION     XP_054184962.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328987.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187601.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12-32.13"
     Protein         1..418
                     /product="alpha-1-antitrypsin isoform X1"
                     /calculated_mol_wt=46578
     CDS             1..418
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /coded_by="XM_054328987.1:423..1679"
                     /db_xref="GeneID:5265"
                     /db_xref="HGNC:HGNC:8941"
                     /db_xref="MIM:107400"
ORIGIN      
        1 mpssvswgil llaglcclvp vslaedpqgd aaqktdtshh dqdhptfnki tpnlaefafs
       61 lyrqlahqsn stniffspvs iatafamlsl gtkadthdei leglnfnlte ipeaqihegf
      121 qellrtlnqp dsqlqlttgn glflseglkl vdkfledvkk lyhseaftvn fgdteeakkq
      181 indyvekgtq gkivdlvkel drdtvfalvn yiffkgkwer pfevkdteee dfhvdqattv
      241 kvpmmkrlgm fniqhckkls swvllmkylg nataifflpd egklqhlene lthdiitkfl
      301 enedrrsasl hlpklsitgt ydlksvlgql gitkvfsnga dlsgvteeap lklskavhka
      361 vltidekgte aagamfleai pmsippevkf nkpfvflmie qntksplfmg kvvnptqk
//
LOCUS       XP_054186939             757 aa            linear   PRI 20-MAR-2023
DEFINITION  CCR4-NOT transcription complex subunit 3 isoform X3 [Homo sapiens].
ACCESSION   XP_054186939
VERSION     XP_054186939.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330964.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571058.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..757
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..757
                     /product="CCR4-NOT transcription complex subunit 3 isoform
                     X3"
                     /calculated_mol_wt=81396
     CDS             1..757
                     /gene="CNOT3"
                     /gene_synonym="IDDSADF; LENG2; NOT3; NOT3H"
                     /coded_by="XM_054330964.1:283..2556"
                     /db_xref="GeneID:4849"
                     /db_xref="HGNC:HGNC:7879"
                     /db_xref="MIM:604910"
ORIGIN      
        1 madkrklqge idrclkkvse gveqfediwq klhnaananq kekyeadlkk eikklqrlrd
       61 qiktwvasne ikdkrqlidn rklietqmer fkvveretkt kayskeglgl aqkvdpaqke
      121 keevgqwltn tidtlnmqvd qfesevesls vqtrkkkgdk dqkqdriegl krhiekhryh
      181 vrmletilrm ldndsilvda irkikddvey yvdssqdpdf eeneflyddl dledipqalv
      241 atsppshshm edeifnqsss tptsttsssp ippspanctt enseddkkrg rstdsevsqs
      301 pakngskpvh snqhpqspav pptypsgppp aasalsttpg nngvpapaap psalgpkasp
      361 apshnsgtpa pyaqavappa psgpsttqpr ppsvqpsggg gggsggggss sssnssaggg
      421 agkqngatsy ssvvadspae valsssggnn assqalgpps gphnpppsts kepsaaaptg
      481 aggvapgsgn nsggpsllvp lpvnppsspt psfsdakaag allngppqfs tapeikapep
      541 lsslksmaer aaissgiedp vptlhlterd iilsstsapp asaqpplqls evniplslgv
      601 cplgpvpltk eqlyqqamee aawhhmphps dserirqylp rnpcptppyh hqmppphsdt
      661 vefyqrlste tlffifyyle gtkaqylaak alkkqswrfh tkymmwfqrh eepktitdef
      721 eqlaqslslt kysslwlsaq pgtppshppl gqllgll
//
LOCUS       XP_054194511             629 aa            linear   PRI 20-MAR-2023
DEFINITION  transforming growth factor beta receptor type 3 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054194511
VERSION     XP_054194511.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338536.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..629
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..629
                     /product="transforming growth factor beta receptor type 3
                     isoform X3"
                     /calculated_mol_wt=69170
     CDS             1..629
                     /gene="TGFBR3"
                     /gene_synonym="betaglycan; BGCAN"
                     /coded_by="XM_054338536.1:442..2331"
                     /db_xref="GeneID:7049"
                     /db_xref="HGNC:HGNC:11774"
                     /db_xref="MIM:600742"
ORIGIN      
        1 mssqpqneev hiielitpns npysafqvdi tidirpsqed levvknlili lkckksvnwv
       61 iksfdvkgsl kiiapnsigf gkesersmtm tksirddips tqgnlvkwal dngyspitsy
      121 tmapvanrfh lrlennaeem gdeevhtipp elrilldpga lpalqnppir ggegqngglp
      181 fpfpdisrrv wneegedglp rpkdpvipsi qlfpglrepe evqgsvdial svkcdnekmi
      241 vavekdsfqa sgysgmdvtl ldptckakmn gthfvlespl ngcgtrprws aldgvvyyns
      301 iviqvpalgd ssgwpdgyed lesgdngfpg dmdegdaslf trpeivvfnc slqqvrnpss
      361 fqeqphgnit fnmelyntdl flvpsqgvfs vpenghvyve vsvtkaeqel gfaiqtcfis
      421 pysnpdrmsh ytiienicpk desvkfyspk rvhfpipqad mdkkrfsfvf kpvfntsllf
      481 lqceltlctk mekhpqklpk cvppdeacts ldasiiwamm qnkktftkpl avihheaesk
      541 ekgpsmkepn pisppifhgl dtltvmgiaf aafvigallt galwyiysht getagrqqvp
      601 tsppasenss aahsigstqs tpcssssta
//
LOCUS       XP_054194738             792 aa            linear   PRI 20-MAR-2023
DEFINITION  tubulin polyglutamylase TTLL7 isoform X1 [Homo sapiens].
ACCESSION   XP_054194738
VERSION     XP_054194738.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338763.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 5% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..792
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..792
                     /product="tubulin polyglutamylase TTLL7 isoform X1"
                     /calculated_mol_wt=92092
     CDS             1..792
                     /gene="TTLL7"
                     /coded_by="XM_054338763.1:404..2782"
                     /db_xref="GeneID:79739"
                     /db_xref="HGNC:HGNC:26242"
                     /db_xref="MIM:618813"
ORIGIN      
        1 mpslpqegvi qgpspldlnt elpyqstmkr kvrkkkkkgt itanvagtkf eivrlvidem
       61 gfmktpdede tsnliwcdsa vqqekiselq nyqrinhfpg mgeicrkdfl arnmtkmiks
      121 rpldytfvpr twifpaeytq fqnyvkelkk krkqktfivk pangamghgi slirngdklp
      181 sqdhlivqey iekpflmegy kfdlriyilv tscdplkifl yhdglvrmgt ekyippnesn
      241 ltqlymhltn ysvnkhnehf erdetenkgs krsikwftef lqanqhdvak fwsdiselvv
      301 ktlivaephv lhayrmcrpg qppgsesvcf evlgfdilld rklkpwllei nrapsfgtdq
      361 kidydvkrgv llnalkllni rtsdkrrnla kqkaeaqrrl ygqnsikrll pgssdweqqr
      421 hqlerrkeel kerlaqvrkq isreehenrh mgnyrriypp edkallekye nllavafqtf
      481 lsgraasfqr elnnplkrmk eedildlleq ceiddeklmg kttktrgpkp lcsmpestei
      541 mkrpkycssd ssydssssss esdenekeey qnkkrekqvt ynlkpsnhyk liqqpssirr
      601 svscprsisa qspssgdtrp fsaqqmisvs rptsasrshs lnrassymrh lphsndacst
      661 nsqvseslrq lktkeqeddl tsqtlfvlkd mkirfpgksd aeselliedi idnwkyhktk
      721 vasywlikld svkqrkvldi vktsirtvlp riwkvpdvee vnlyrifnrv fnrllwsrgq
      781 glwncfcdsg yv
//
LOCUS       XP_054221046             818 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 438 isoform X3 [Homo sapiens].
ACCESSION   XP_054221046
VERSION     XP_054221046.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365071.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..818
                     /product="zinc finger protein 438 isoform X3"
                     /calculated_mol_wt=90659
     CDS             1..818
                     /gene="ZNF438"
                     /gene_synonym="bA330O11.1"
                     /coded_by="XM_054365071.1:412..2868"
                     /db_xref="GeneID:220929"
                     /db_xref="HGNC:HGNC:21029"
ORIGIN      
        1 mdsesnipsg tiqsrkglqn ksqfrtiapk ivpkvltsrm lpchspsrsd qvnlgpsins
       61 kllgmstqny almqvagqeg tfslvalphv asaqpiqkpr mslpenlklp ipryqpprns
      121 kasrkkpili fpksgcskap aqtqmcpqms pspphhpell yksspfeevp sleqapasis
      181 taaltngsdh gdlrppvtnt hgslnppatp asstpeepak qdltalsgka hfvskitssk
      241 psavasekfk eqvdlaktmt nlsptilgna vqlissvpkg klpippysrm ktmevykiks
      301 daniagfslp gpkadcdkip sttegfnaat kvasrlpvpq vsqqsacesa fcpptkldln
      361 hktklnsgaa krkgrkrkvp deilafqgkr rkyiinkcrd gkervkndpq efrdqklgtl
      421 kkyrsimpkp imviptlasl aspttlqsqm lgglgqdvll nnsltpkylg ckqdnssspk
      481 pssvfrngfs gikkpwhrch vcnhhfqfkq hlrdhmntht nrrpyscric rksyvrpgsl
      541 sthmklhhge nrlkklmcce fcakvfghir vyfghlkevh rvvistepap selqpgdipk
      601 nrdmsvrgme gslerenksn leedfllnqa devklqikcg rcqitaqsfa eikfhlldvh
      661 geeiegrlqe gtfpgskgtq eelvqhaspd wkrhpergkp ekvhsssees hacprlkrql
      721 hlhqngveml menegpqsgt nkpretcqgp ecpglhtfll wshsgfncll caemlgrked
      781 llhhwkhqhn cedpsklwai lntvsnqgvi elsseaek
//
LOCUS       XP_054224092            1444 aa            linear   PRI 20-MAR-2023
DEFINITION  SH3 and multiple ankyrin repeat domains protein 2 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054224092
VERSION     XP_054224092.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368117.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1444
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1444
                     /product="SH3 and multiple ankyrin repeat domains protein
                     2 isoform X5"
                     /calculated_mol_wt=155674
     CDS             1..1444
                     /gene="SHANK2"
                     /gene_synonym="AUTS17; CORTBP1; CTTNBP1; ProSAP1; SHANK;
                     SPANK-3"
                     /coded_by="XM_054368117.1:392..4726"
                     /db_xref="GeneID:22941"
                     /db_xref="HGNC:HGNC:14295"
                     /db_xref="MIM:603290"
ORIGIN      
        1 mksllnaftk kevpfreapa ysnrrrrppn tlaaprvllr snsdnnlnas apdwavcsta
       61 tshrslspql lqqmpskpeg aaktigsyvp gprsrspsln rlggagedgk rpqplwhvgs
      121 pfalgankds lsafeypgpk rklysavpgr lfvavkpyqp qvdgeiplhr gdrvkvlsig
      181 eggfwegsar ghigwfpaec veevqckprd sqaetradrs kklfrhytvg sydsfdtssd
      241 ciieektvvl qkkdnegfgf vlrgakadtp ieeftptpaf palqylesvd eggvawqagl
      301 rtgdflievn nenvvkvghr qvvnmirqgg nhlvlkvvtv trnldpddta rkkappppkr
      361 apttaltlrs ksmtseleel dkpeeivpas kpsraaenma veprvatikq rpssrcfpag
      421 sdmnsvyerq giavmtptvp gspkapflgi prgiteeerq flappmlkft rslsmpdtse
      481 dippppqsvp psppppsptt yncpksptpr vygtikpafn qnsaakvspa trsdtvatmm
      541 rekgmyfrre ldrysldsed lysrnagpqa nfrnkrgqmp enpysevgki askavyvpak
      601 parrkgmlvk qsnvedspek tcsipiptii vkepstsssg kssqgssmei dpqapeppsq
      661 lrpdesltvs spfaaaiaga vrdrekrlea rrnspaflst dlgdedvglg ppaprtrpsm
      721 fpeegdfade dsaeqlsspm psatprepen hfvggaeasa pgeagrplns tskaqgpess
      781 pavpsassgt agpgnyvhpl tgrlldpssp lalalsardr amkesqqgpk geapkadlnk
      841 plyidtkmrp sldagfptvt rqntrgplrr qetenkyetd lgrdrkgddk knmlidimdt
      901 sqqksagllm vhtvdatkld nalqeedeka evemkpdssp sevpegvset egalqisaap
      961 epttvpgrti vavgsmeeav ilpfripppp lasvdldedf ifteplpppl efansfdipd
     1021 draasvpals dlvkqkksdt pqspslnssq ptnsadskkp aslsnclpas flpppesfda
     1081 vadsgieevd srsssdhhle ttstistvss istlssegge nvdtctvyad gqafmvdkpp
     1141 vppkpkmkpi ihksnalyqd alveedvdsf vipppapppp pgsaqpgmak vlqprtsklw
     1201 gdvteikspi lsgpkanvis elnsilqqmn reklakpgeg ldspmgaksa slaprspeim
     1261 stisgtrstt vtftvrpgts qpitlqsrpp dyesrtsgtr rapspvvspt emnketlpap
     1321 lsaataspsp alsdvfslps qppsgdlfgl npagrsrsps psilqqpisn kpfttkpvhl
     1381 wtkpdvadwl eslnlgehke afmdneidgs hlpnlqkedl idlgvtrvgh rmnieralkq
     1441 lldr
//
LOCUS       XP_054227347            3536 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein axonemal heavy chain 10 isoform X7 [Homo sapiens].
ACCESSION   XP_054227347
VERSION     XP_054227347.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371372.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3536
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3536
                     /product="dynein axonemal heavy chain 10 isoform X7"
                     /calculated_mol_wt=406349
     CDS             1..3536
                     /gene="DNAH10"
                     /gene_synonym="SPGF56"
                     /coded_by="XM_054371372.1:93..10703"
                     /db_xref="GeneID:196385"
                     /db_xref="HGNC:HGNC:2941"
                     /db_xref="MIM:605884"
ORIGIN      
        1 mngsciecpp qkgeeeevvi infyndisln pqiieqavmi pqnvhrilin lmkylqkwkr
       61 yrplwkldka ivmekfaakk ppcvaydekl qfyskiayev mrhplikdeh cirlqlrhla
      121 ntvqenaksw vislgkllne sakeelynlh eemehlaknl rkipntledl kfvlatiaei
      181 rskslvmelr yrdvqeryrt mamynlfppd aekelvdkie siwsnlfnds vnvehalgdi
      241 krtfteltrg eimnyrvqie efakrfyseg pgsvgddldk gvellgvyer elarheksrq
      301 elanaeklfd lpitmypell kvqkemsglr miyelyeglk vakeewsqtl winlnvqilq
      361 egiegflral rklprpvrgl svtyyleakm kafkdsipll ldlknealrd rhwkelmekt
      421 svffemtetf tlenmfamel hkhtdvlnei vtaaikevai ekavkeildt wenmkftvvk
      481 yckgtqergy ilgsvdeiiq slddntfnlq sisgsrfvgp flqtvhkwek tlsligevie
      541 iwmlvqrkwm ylesifiggd irsqlpeeak kfdnidkvfk rimgetlkdp vikrcceapn
      601 rlsdlqnvse glekcqksln dyldskrnaf prfffisdde llsilgssdp lcvqehmikm
      661 ydniaslrfn dgdsgeklvs amisaegevm efrkivraeg rvedwmtavl nemrrtnrli
      721 tkeaifryce drsrvdwmll yqgmvvlaas qvwwtweved vfhkaqkgek qamknygrkm
      781 hrqidelvtr itmplskndr kkyntvliid vhardivdsf irgsileare fdwesqlrfy
      841 wdrepdelni rqctgtfgyg yeymglngrl vitpltdriy ltltqalsmy lggapagpag
      901 tgktettkdl akalgllcvv tncgegmdyr avgkifsgla qcgawgcfde fnridasvls
      961 vissqiqtir nalihqlttf qfegqeisld srmgifitmn pgyagrtelp esvkalfrpv
     1021 vvivpdlqqi ceimlfsegf leaktlakkm tvlyklareq lskqyhydfg lralksvlvm
     1081 agelkrgssd lredvvlmra lrdmnlpkfv fedvplflgl isdlfpgldc prvrypdfnd
     1141 aveqvleeng yavlpiqvdk vvqmfetmlt rhttmvvgpt rggksvvint lcqaqtklgl
     1201 ttklyilnpk avsvielygi ldpttrdwtd gvlsnifrei nkptdkkerk yilfdgdvda
     1261 lwvenmnsvm ddnrlltlan gerirlqahc allfevgdlq yaspatvsrc gmvyvdpknl
     1321 kyrpywkkwv nqipnkveqy nlnslfekyv pylmdviveg ivdgrqaekl ktivpqtdln
     1381 mvtqlakmld allegeiedl dllecyflea lycslgasll edgrmkfdey ikrlaslstv
     1441 dtegvwanpg elpgqlptly dfhfdnkrnq wvpwsklvpe yihaperkfi nilvhtvdtt
     1501 rttwileqmv kikqpvifvg esgtsktatt qnflknlsee tnivlmvnfs srttsmdiqr
     1561 nleanvekrt kdtygppmgk rllvfmddmn mprvdeygtq qpiallklll ekgylydrgk
     1621 elncksirdl gfiaamgkag ggrnevdprf islfsvfnvp fpseeslhli yssilkghts
     1681 tfhesivavs gkltfctlal yknivqdlpp tpskfhyifn lrdlsrvfng lvltnperfq
     1741 tvaqmvrvwr neclrvfhdr lisetdkqlv qqhigslvve hfkddvevvm rdpilfgdfq
     1801 malhegepri yediqdyeaa kalfqeilee ynesntkmnl vlfddalehl trvhriirmd
     1861 rghallvgvg gsgkqslsrl aaftascevf eillsrgyse nsfredlksl ylklgienka
     1921 miflftdahv aeegflelin nmltsgivpa lfseeekesi lsqigqealk qgmgpakesv
     1981 wqyfvnksan nlhivlgmsp vgdtlrtwcr nfpgmvnntg idwfmpwppq alhavaksfl
     2041 gynpmipaen ienvvkhvvl vhqsvdhysq qflqklrrsn yvtpknyldf intyskllde
     2101 ktqcniaqck rldggldklk eatiqldeln qklaeqkivl aeksaaceal leeiavntav
     2161 aeekkklaee kameieeqnk viamekaeae ttlaevmpil eaaklelqkl dksdvteirs
     2221 fakppkqvqt vcecilimkg ykelnwktak gvmsdpnflr slmeidfdsi tqsqvknikg
     2281 llktlnttte emeavskagl gmlkfveavm gycdvfreik pkrekvarle rnfyltkrel
     2341 eriqnelaai qkeletlgak yeaailekqk lqeeaeimer rliaadklis glgsenirwl
     2401 ndldelmhrr vkllgdcllc aaflsyegaf twefrdemvn riwqndiler eiplsqpfrl
     2461 eslltddvei srwgsqglpp delsvqngil ttrasrfplc idpqqqalnw ikrkeeknnl
     2521 rvasfndpdf lkqlemsiky gtpflfrdvd eyidpvidnv leknikvsqg rqfiilgdke
     2581 vdydsnfrly lntklanpry spsvfgkamv inytvtlkgl edqllsvlva yerreleeqr
     2641 ehliqetsen knllkdleds llrelatstg nmldnvdlvh tleetkskat evseklklae
     2701 ktaldidrlr dgyrpaarrg ailffvlsem alvnsmyqys liaflevfrl slkkslpdsi
     2761 lmkrlrnimd tltfsiynhg ctglferhkl lfsfnmtiki eqaegrvpqe eldfflkgni
     2821 slekskrkkp cawlsdqgwe diillsemfs dnfgqlpddv ennqtvwqew ydldsleqfp
     2881 vplgydnnit pfqkllilrc frvdrvyrav tdyvtvtmge kyvqppmisf eaifeqstph
     2941 spivfilspg sdpatdlmkl aersgfggnr lkflamgqgq ekvalqllet avargqwlml
     3001 qnchllvkwl kdleksleri tkphpdfrlw lttdptkgfp igilqkslkv vteppnglkl
     3061 nmratyfkis hemldqcphp afkplvyvla ffhavvqerr kfgkigwnvy ydfnesdfqv
     3121 cmeilntylt kafqqrdpri pwgslkylig evmyggraid sfdrriltiy mdeylgdfif
     3181 dtfqpfhffr nkevdykipv gdekekfvea iealplantp evfglhpnae igyytqaard
     3241 mwahllelqp qtgesssgis rddyigqvak eienkmpkvf dldqvrkrlg tglsptsvvl
     3301 lqelerfnkl vvrmtkslae lqralagevg msnelddvar slfighipni wrrlapdtlk
     3361 slgnwmvyfl rrfsqymlwv tesepsvmwl sglhipesyl talvqatcrk ngwpldrstl
     3421 ftqvtkfqda devneragqg cfvsglyleg adwdiekgcl ikskpkvlvv dlpilkiipi
     3481 eahrlklqnt frtpvyttsm rrnamgvglv feadlfttrh ishwvlqgvc ltlnsd
//
LOCUS       XP_054208297             424 aa            linear   PRI 20-MAR-2023
DEFINITION  serine incorporator 5 isoform X3 [Homo sapiens].
ACCESSION   XP_054208297
VERSION     XP_054208297.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352322.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..424
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..424
                     /product="serine incorporator 5 isoform X3"
                     /calculated_mol_wt=47385
     CDS             1..424
                     /gene="SERINC5"
                     /gene_synonym="C5orf12; TPO1"
                     /coded_by="XM_054352322.1:435..1709"
                     /db_xref="GeneID:256987"
                     /db_xref="HGNC:HGNC:18825"
                     /db_xref="MIM:614551"
ORIGIN      
        1 myalyfilvv vlccimmstt vahkmkehip ffedmckgik agdtceklvg ysavyrvcfg
       61 macfffifcl ltlkinnsks crahihngfw ffkllllgam csgaffipdq dtflnawryv
      121 gavggflfig iqllllvefa hkwnknwtag tasnklwyas lalvtlimys iatgglvlma
      181 vfytqkdscm enkillgvng glcllislva ispwvqnrqp hsgllqsgvi scyvtyltfs
      241 alsskpaevv ldehgknvti cvpdfgqdly rdenlvtilg tslligcily scltsttrss
      301 sdalqgryaa peleiarccf cfspggedte eqqpgkegpr viydekkgtv yiysyfhfvf
      361 flaslyvmmt vtnwfnyesa niesffsgsw sifwvkmasc wicvllylct lvaplccptr
      421 efsv
//
LOCUS       XP_054220193             498 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine deaminase isoform X2 [Homo sapiens].
ACCESSION   XP_054220193
VERSION     XP_054220193.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364218.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..498
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..498
                     /product="guanine deaminase isoform X2"
                     /calculated_mol_wt=56280
     CDS             1..498
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /coded_by="XM_054364218.1:121..1617"
                     /db_xref="GeneID:9615"
                     /db_xref="HGNC:HGNC:4212"
                     /db_xref="MIM:139260"
ORIGIN      
        1 mcaaqmppla hifrgtfvhs twtcpmevlr dhllgvsdsg kivfleeasq qeklakewcf
       61 kpceirelsh heffmpglvd thihasqysf agssidlpll ewltkytfpa ehrfqnidfa
      121 eevytrvvtl ellmsvlvkk tlffhkggnm eckqpsqghv annrqnrrtl kngtttacyf
      181 atihtdssll laditdkfgq rafvgkvcmd lndtfpeyke tteesikete rfvsemlqkn
      241 ysrvkpivtp rfslscsetl mgelgniakt rdlhiqshis enrdeveavk nlypsyknyt
      301 svydknnllt nktvmahgcy lsaeelnvfh ergasiahcp nsnlslssgf lnvlevlkhe
      361 vkiglgtdva ggysysmlda irravmvsni llinkvneks ltlkevfrla tlggsqalgl
      421 dgeignfevg kefdailinp kasdspidlf ygdffgdise aviqkflylg kkqftyqpph
      481 pilhhflnvp wyfqrntl
//
LOCUS       XP_054183496             555 aa            linear   PRI 20-MAR-2023
DEFINITION  X-linked retinitis pigmentosa GTPase regulator isoform X3 [Homo
            sapiens].
ACCESSION   XP_054183496
VERSION     XP_054183496.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327521.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..555
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..555
                     /product="X-linked retinitis pigmentosa GTPase regulator
                     isoform X3"
                     /calculated_mol_wt=62478
     CDS             1..555
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /coded_by="XM_054327521.1:147..1814"
                     /db_xref="GeneID:6103"
                     /db_xref="HGNC:HGNC:10295"
                     /db_xref="MIM:312610"
ORIGIN      
        1 mqpeepdyll demtkeaeid nsstveslge ttdilnmthi mslnsneksl klspvqkqkk
       61 qqtigeltqd taltenddsd eyeemsemke gkackqhvsq gifmtqpatt ieafsdeevg
      121 ndtgqvgpqa dtdgeglqke vyrhennngv dqldakeiek esdgghsqke seaeeidsek
      181 etklaeiagm kdlrerekst kkmspffgnl pdrgmntese enkdfvkkre sckqdvifds
      241 eresvekpds ymegasesqq giadgfqqpe aiefssgeke ddevetdqni rygrklieqg
      301 neketkpiis ksmakydfkc drlseipeek egaedskgng ieeqeveane envkvhggrk
      361 ekteilsddl tdkaedhefs kteelkledv deeinaenve skkktvgdde svptgyhskt
      421 egaertndds saetiekkek anleeraice ynenpkgyml ddadssslei lensettpsk
      481 dmkktkkifl fkrvpsinqk ivknnneplp eiksigdqii lksdnkdadq nhmsqnhqni
      541 pptnterrsk sctil
//
LOCUS       NP_055721                755 aa            linear   PRI 28-MAR-2023
DEFINITION  protein phosphatase 1E [Homo sapiens].
ACCESSION   NP_055721
VERSION     NP_055721.3
DBSOURCE    REFSEQ: accession NM_014906.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 755)
  AUTHORS   Gheibi S, Cataldo LR, Hamilton A, Huang M, Kalamajski S, Fex M and
            Mulder H.
  TITLE     Reduced Expression Level of Protein Phosphatase PPM1E Serves to
            Maintain Insulin Secretion in Type 2 Diabetes
  JOURNAL   Diabetes 72 (4), 455-466 (2023)
   PUBMED   36662636
  REMARK    GeneRIF: Reduced Expression Level of Protein Phosphatase PPM1E
            Serves to Maintain Insulin Secretion in Type 2 Diabetes.
REFERENCE   2  (residues 1 to 755)
  AUTHORS   Ma S, Gu X, Shen L, Chen Y, Qian C, Shen X and Ju S.
  TITLE     CircHAS2 promotes the proliferation, migration, and invasion of
            gastric cancer cells by regulating PPM1E mediated by hsa-miR-944
  JOURNAL   Cell Death Dis 12 (10), 863 (2021)
   PUBMED   34556632
  REMARK    GeneRIF: CircHAS2 promotes the proliferation, migration, and
            invasion of gastric cancer cells by regulating PPM1E mediated by
            hsa-miR-944.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 755)
  AUTHORS   Chen MB, Liu YY, Cheng LB, Lu JW, Zeng P and Lu PH.
  TITLE     AMPKalpha phosphatase Ppm1E upregulation in human gastric cancer is
            required for cell proliferation
  JOURNAL   Oncotarget 8 (19), 31288-31296 (2017)
   PUBMED   28423719
  REMARK    GeneRIF: Ppm1E upregulation in human gastric cancer is important
            for cell proliferation, possible via regulating AMPK-mTOR
            signaling.
REFERENCE   4  (residues 1 to 755)
  AUTHORS   Li ZW, Zhu YR, Zhou XZ, Zhuo BB and Wang XD.
  TITLE     microRNA-135b expression silences Ppm1e to provoke AMPK activation
            and inhibit osteoblastoma cell proliferation
  JOURNAL   Oncotarget 8 (16), 26424-26433 (2017)
   PUBMED   28460435
  REMARK    GeneRIF: our results suggest that miR-135b-induced Ppm1e silence
            induces AMPK activation to inhibit osteoblastoma cell
            proliferation.
REFERENCE   5  (residues 1 to 755)
  AUTHORS   Li P, Fan JB, Gao Y, Zhang M, Zhang L, Yang N and Zhao X.
  TITLE     miR-135b-5p inhibits LPS-induced TNFalpha production via silencing
            AMPK phosphatase Ppm1e
  JOURNAL   Oncotarget 7 (47), 77978-77986 (2016)
   PUBMED   27793001
  REMARK    GeneRIF: miR-135b-5p expression downregulates Ppm1e to activate
            AMPK signaling, which inhibits LPS-induced TNFalpha production via
            suppressing ROS production and NFkappaB activation.
REFERENCE   6  (residues 1 to 755)
  AUTHORS   Sueyoshi N, Takao T, Nimura T, Sugiyama Y, Numano T, Shigeri Y,
            Taniguchi T, Kameshita I and Ishida A.
  TITLE     Inhibitors of the Ca(2+)/calmodulin-dependent protein kinase
            phosphatase family (CaMKP and CaMKP-N)
  JOURNAL   Biochem Biophys Res Commun 363 (3), 715-721 (2007)
   PUBMED   17897624
REFERENCE   7  (residues 1 to 755)
  AUTHORS   Ishida A, Tada Y, Nimura T, Sueyoshi N, Katoh T, Takeuchi M,
            Fujisawa H, Taniguchi T and Kameshita I.
  TITLE     Identification of major Ca(2+)/calmodulin-dependent protein kinase
            phosphatase-binding proteins in brain: biochemical analysis of the
            interaction
  JOURNAL   Arch Biochem Biophys 435 (1), 134-146 (2005)
   PUBMED   15680915
REFERENCE   8  (residues 1 to 755)
  AUTHORS   Takeuchi M, Taniguchi T and Fujisawa H.
  TITLE     Identification and characterization of nuclear localization signals
            of CaMKP-N
  JOURNAL   J Biochem 136 (2), 183-188 (2004)
   PUBMED   15496589
REFERENCE   9  (residues 1 to 755)
  AUTHORS   Koh CG, Tan EJ, Manser E and Lim L.
  TITLE     The p21-activated kinase PAK is negatively regulated by POPX1 and
            POPX2, a pair of serine/threonine phosphatases of the PP2C family
  JOURNAL   Curr Biol 12 (4), 317-321 (2002)
   PUBMED   11864573
  REMARK    GeneRIF: The p21-activated kinase PAK is negatively regulated by
            POPX1 and POPX2, a pair of serine/threonine phosphatases of the
            PP2C family. (POPX1; POPX2)
REFERENCE   10 (residues 1 to 755)
  AUTHORS   Takeuchi M, Ishida A, Kameshita I, Kitani T, Okuno S and Fujisawa
            H.
  TITLE     Identification and characterization of CaMKP-N, nuclear
            calmodulin-dependent protein kinase phosphatase
  JOURNAL   J Biochem 130 (6), 833-840 (2001)
   PUBMED   11726284
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025521.21, AK289966.1 and
            AC100832.2.
            On Apr 24, 2003 this sequence version replaced NP_055721.2.
            
            Summary: This gene encodes a member of the PPM family of
            serine/threonine-protein phosphatases. The encoded protein is
            localized to the nucleus and dephosphorylates and inactivates
            multiple substrates including serine/threonine-protein kinase PAK
            1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional
            calcium/calmodulin-dependent protein kinases. Alternatively spliced
            transcript variants have been observed for this gene. [provided by
            RefSeq, May 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and is protein-coding.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.165465.1, BC151228.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308249.4/ ENSP00000312411.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..755
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q22"
     Protein         1..755
                     /product="protein phosphatase 1E"
                     /EC_number="3.1.3.16"
                     /note="partner of PIX 1; nuclear calmodulin-dependent
                     protein kinase phosphatase; protein phosphatase 1E (PP2C
                     domain containing); caMKP-nucleus; partner of PIXA;
                     partner of PIX-alpha; ca(2+)/calmodulin-dependent protein
                     kinase phosphatase N"
                     /calculated_mol_wt=83821
     Region          21..131
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WY54.3)"
     Region          31..52
                     /region_name="11 X 2 AA tandem repeats of P-E"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WY54.3)"
     Region          230..488
                     /region_name="PP2Cc"
                     /note="Serine/threonine phosphatases, family 2C, catalytic
                     domain; The protein architecture and deduced catalytic
                     mechanism of PP2C phosphatases are similar to the PP1,
                     PP2A, PP2B family of protein Ser/Thr phosphatases, with
                     which PP2C shares no sequence...; cd00143"
                     /db_xref="CDD:238083"
     Site            order(241,245..246,273..275,435,479)
                     /site_type="active"
                     /db_xref="CDD:238083"
     Region          498..537
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WY54.3)"
     Site            535
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q80TL0; propagated from
                     UniProtKB/Swiss-Prot (Q8WY54.3)"
     Site            548
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q80Z30; propagated from
                     UniProtKB/Swiss-Prot (Q8WY54.3)"
     CDS             1..755
                     /gene="PPM1E"
                     /gene_synonym="caMKN; CaMKP-N; CAMKPN; POPX1; PP2CH"
                     /coded_by="NM_014906.5:145..2412"
                     /db_xref="CCDS:CCDS11613.1"
                     /db_xref="GeneID:22843"
                     /db_xref="HGNC:HGNC:19322"
                     /db_xref="MIM:619308"
ORIGIN      
        1 magcipeekt yrrflelflg efrgpcggge pepepepepe pepesepepe pelveaeaae
       61 asveepgeea atvaateegd qeqdpepeee aavegeeeee gaataaaapg hsavpppppq
      121 lpplpplprp lseritreev egesldlclq qlykyncpsf laaalarats devlqsdlsa
      181 hyipketdgt egtveietvk larsvfsklh eiccswvkdf plrrrpqlyy etsihaiknm
      241 rrkmedkhvc ipdfnmlfnl edqeeqayfa vfdghggvda aiyasihlhv nlvrqemfph
      301 dpaealcraf rvtderfvqk aareslrcgt tgvvtfirgn mlhvawvgds qvmlvrkgqa
      361 velmkphkpd redekqriea lggcvvwfga wrvngslsvs raigdaehkp yicgdadsas
      421 tvldgtedyl ilacdgfydt vnpdeavkvv sdhlkenngd ssmvahklva sardagssdn
      481 itvivvflrd mnkavnvsee sdwtensfqg gqedggddke nhgeckrpwp qhqcsapadl
      541 gydgrvdsft drtslspgsq invledpgyl dltqieaskp hsaqfllpve mfgpgapkka
      601 nlinelmmek ksvqsslpew sgagefptaf nlgstgeqiy rmqslspvcs gleneqfksp
      661 gnrvsrlshl rhhyskkwhr frfnpkfysf lsaqepshki gtslssltgs gkrnrirssl
      721 pwrqnswkgy senmrklrkt hdipcpdlpw sykie
//
LOCUS       NP_001333592             180 aa            linear   PRI 03-APR-2023
DEFINITION  thymidine kinase, cytosolic isoform 2 [Homo sapiens].
ACCESSION   NP_001333592
VERSION     NP_001333592.1
DBSOURCE    REFSEQ: accession NM_001346663.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 180)
  AUTHORS   Tribukait B, Lundgren PO, Kjellman A, Norming U, Nyman CR,
            Jagarlmundi K and Gustafsson O.
  TITLE     Prediction of Overall Survival by Thymidine Kinase 1 Combined with
            Prostate-Specific Antigen in Men with Prostate Cancer
  JOURNAL   Int J Mol Sci 24 (6), 5160 (2023)
   PUBMED   36982234
  REMARK    GeneRIF: Prediction of Overall Survival by Thymidine Kinase 1
            Combined with Prostate-Specific Antigen in Men with Prostate
            Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 180)
  AUTHORS   Jaamaa S, Nevala R, Jagarlamudi K, Tukiainen E, Blomqvist C and
            Sampo M.
  TITLE     Serum Concentration of Thymidine Kinase 1 (TK1) as a Tumor Marker
            in Soft Tissue Sarcomas
  JOURNAL   Anticancer Res 42 (3), 1509-1515 (2022)
   PUBMED   35220246
  REMARK    GeneRIF: Serum Concentration of Thymidine Kinase 1 (TK1) as a Tumor
            Marker in Soft Tissue Sarcomas.
REFERENCE   3  (residues 1 to 180)
  AUTHORS   Paoletti C, Barlow WE, Cobain EF, Bergqvist M, Mehta RS, Gralow JR,
            Hortobagyi GN, Albain KS, Pusztai L, Sharma P, Godwin AK, Thompson
            AM, Hayes DF and Rae JM.
  TITLE     Evaluating Serum Thymidine Kinase 1 in Patients with Hormone
            Receptor-Positive Metastatic Breast Cancer Receiving First-line
            Endocrine Therapy in the SWOG S0226 Trial
  JOURNAL   Clin Cancer Res 27 (22), 6115-6123 (2021)
   PUBMED   34521624
  REMARK    GeneRIF: Evaluating Serum Thymidine Kinase 1 in Patients with
            Hormone Receptor-Positive Metastatic Breast Cancer Receiving
            First-line Endocrine Therapy in the SWOG S0226 Trial.
REFERENCE   4  (residues 1 to 180)
  AUTHORS   Meirovitz A, Gross M, Leibovici V, Sheva K, Popovzer A and Barak V.
  TITLE     Clinical Applicability of the Proliferation Marker Thymidine Kinase
            1 in Head and Neck Cancer Patients
  JOURNAL   Anticancer Res 41 (2), 1083-1087 (2021)
   PUBMED   33517319
  REMARK    GeneRIF: Clinical Applicability of the Proliferation Marker
            Thymidine Kinase 1 in Head and Neck Cancer Patients.
REFERENCE   5  (residues 1 to 180)
  AUTHORS   Li CL, Lu CY, Ke PY and Chang ZF.
  TITLE     Perturbation of ATP-induced tetramerization of human cytosolic
            thymidine kinase by substitution of serine-13 with aspartic acid at
            the mitotic phosphorylation site
  JOURNAL   Biochem Biophys Res Commun 313 (3), 587-593 (2004)
   PUBMED   14697231
  REMARK    GeneRIF: the enzymatic function at the G2/M phase of TK1 depends on
            its quaternary structure
REFERENCE   6  (residues 1 to 180)
  AUTHORS   Chang ZF, Huang DY and Chi LM.
  TITLE     Serine 13 is the site of mitotic phosphorylation of human thymidine
            kinase
  JOURNAL   J Biol Chem 273 (20), 12095-12100 (1998)
   PUBMED   9575153
REFERENCE   7  (residues 1 to 180)
  AUTHORS   Kim YK and Lee AS.
  TITLE     Identification of a protein-binding site in the promoter of the
            human thymidine kinase gene required for the G1-S-regulated
            transcription
  JOURNAL   J Biol Chem 267 (4), 2723-2727 (1992)
   PUBMED   1370831
REFERENCE   8  (residues 1 to 180)
  AUTHORS   Munch-Petersen B, Cloos L, Tyrsted G and Eriksson S.
  TITLE     Diverging substrate specificity of pure human thymidine kinases 1
            and 2 against antiviral dideoxynucleosides
  JOURNAL   J Biol Chem 266 (14), 9032-9038 (1991)
   PUBMED   2026611
REFERENCE   9  (residues 1 to 180)
  AUTHORS   Barik S and Banerjee AK.
  TITLE     Cloning and expression of the vesicular stomatitis virus
            phosphoprotein gene in Escherichia coli: analysis of
            phosphorylation status versus transcriptional activity
  JOURNAL   J Virol 65 (4), 1719-1726 (1991)
   PUBMED   1848304
REFERENCE   10 (residues 1 to 180)
  AUTHORS   Sadava D and Bernard B.
  TITLE     Transition from cytosolic to mitochondrial thymidine kinase during
            development in human fetal tissues
  JOURNAL   Life Sci 47 (25), 2359-2364 (1990)
   PUBMED   2263164
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087645.19 and AC021593.15.
            
            Summary: The protein encoded by this gene is a cytosolic enzyme
            that catalyzes the addition of a gamma-phosphate group to
            thymidine. This creates dTMP and is the first step in the
            biosynthesis of dTTP, which is one component required for DNA
            replication. The encoded protein, whose levels fluctuate depending
            on the cell cycle stage, can act as a low activity dimer or a high
            activity tetramer. High levels of this protein have been used as a
            biomarker for diagnosing and categorizing many types of cancers.
            [provided by RefSeq, Oct 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.345495.1,
                                           SRR14038191.4216604.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
                                                (PMID:9575153)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..180
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..180
                     /product="thymidine kinase, cytosolic isoform 2"
                     /EC_number="2.7.1.21"
                     /note="thymidine kinase, cytosolic; epididymis secretory
                     sperm binding protein; cytosolic thymidine kinase"
                     /calculated_mol_wt=19655
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P04183.2)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P04183.2)"
     Site            13
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14697231,
                     ECO:0000269|PubMed:9575153, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P04183.2)"
     Region          18..>174
                     /region_name="TK"
                     /note="Thymidine kinase; cl23762"
                     /db_xref="CDD:451530"
     CDS             1..180
                     /gene="TK1"
                     /gene_synonym="TK2"
                     /coded_by="NM_001346663.2:59..601"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS86643.1"
                     /db_xref="GeneID:7083"
                     /db_xref="HGNC:HGNC:11830"
                     /db_xref="MIM:188300"
ORIGIN      
        1 mscinlptvl pgspsktrgq iqvilgpmfs gkstelmrrv rrfqiaqykc lvikyakdtr
       61 ysssfcthdr ntmealpacl lrdvaqealg vavigidegq ffpdivefce amanagktvi
      121 vaaldgtfqr kpfgailnlv plaesvvklt avcmecfrea aytkrlgtek eqilqcspan
//
LOCUS       NP_001185642             470 aa            linear   PRI 17-APR-2023
DEFINITION  septin-4 isoform 4 [Homo sapiens].
ACCESSION   NP_001185642
VERSION     NP_001185642.1
DBSOURCE    REFSEQ: accession NM_001198713.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 470)
  AUTHORS   Hao Q, Chen J, Lu H and Zhou X.
  TITLE     The ARTS of p53-dependent mitochondrial apoptosis
  JOURNAL   J Mol Cell Biol 14 (10) (2023)
   PUBMED   36565718
  REMARK    GeneRIF: The ARTS of p53-dependent mitochondrial apoptosis.
            Review article
REFERENCE   2  (residues 1 to 470)
  AUTHORS   Wang G, Zhu X, Gao Y, Lv M, Li K, Tang D, Wu H, Xu C, Geng H, Shen
            Q, Zha X, Duan Z, Zhang J, Hua R, Tao F, Zhou P, Wei Z, Cao Y, Guo
            R and He X.
  TITLE     Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47),
            encoding a conserved annulus protein, cause thin midpiece
            spermatozoa and male infertility in humans
  JOURNAL   Hum Mutat 43 (12), 2079-2090 (2022)
   PUBMED   36135717
  REMARK    GeneRIF: Biallelic loss-of-function mutations in SEPTIN4
            (C17ORF47), encoding a conserved annulus protein, cause thin
            midpiece spermatozoa and male infertility in humans.
REFERENCE   3  (residues 1 to 470)
  AUTHORS   Hao Q, Chen J, Liao J, Huang Y, Gan Y, Larisch S, Zeng SX, Lu H and
            Zhou X.
  TITLE     p53 induces ARTS to promote mitochondrial apoptosis
  JOURNAL   Cell Death Dis 12 (2), 204 (2021)
   PUBMED   33627621
  REMARK    GeneRIF: p53 induces ARTS to promote mitochondrial apoptosis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 470)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 470)
  AUTHORS   Larisch S.
  TITLE     The ARTS connection: role of ARTS in apoptosis and cancer
  JOURNAL   Cell Cycle 3 (8), 1021-1023 (2004)
   PUBMED   15254396
  REMARK    Review article
REFERENCE   6  (residues 1 to 470)
  AUTHORS   Tanaka M, Tanaka T, Kijima H, Itoh J, Matsuda T, Hori S and
            Yamamoto M.
  TITLE     Characterization of tissue- and cell-type-specific expression of a
            novel human septin family gene, Bradeion
  JOURNAL   Biochem Biophys Res Commun 286 (3), 547-553 (2001)
   PUBMED   11511094
REFERENCE   7  (residues 1 to 470)
  AUTHORS   Zieger B, Tran H, Hainmann I, Wunderle D, Zgaga-Griesz A, Blaser S
            and Ware J.
  TITLE     Characterization and expression analysis of two human septin genes,
            PNUTL1 and PNUTL2
  JOURNAL   Gene 261 (2), 197-203 (2000)
   PUBMED   11167005
REFERENCE   8  (residues 1 to 470)
  AUTHORS   Larisch S, Yi Y, Lotan R, Kerner H, Eimerl S, Tony Parks W,
            Gottfried Y, Birkey Reffey S, de Caestecker MP, Danielpour D,
            Book-Melamed N, Timberg R, Duckett CS, Lechleider RJ, Steller H,
            Orly J, Kim SJ and Roberts AB.
  TITLE     A novel mitochondrial septin-like protein, ARTS, mediates apoptosis
            dependent on its P-loop motif
  JOURNAL   Nat Cell Biol 2 (12), 915-921 (2000)
   PUBMED   11146656
REFERENCE   9  (residues 1 to 470)
  AUTHORS   Paavola P, Horelli-Kuitunen N, Palotie A and Peltonen L.
  TITLE     Characterization of a novel gene, PNUTL2, on human chromosome
            17q22-q23 and its exclusion as the Meckel syndrome gene
  JOURNAL   Genomics 55 (1), 122-125 (1999)
   PUBMED   9889007
REFERENCE   10 (residues 1 to 470)
  AUTHORS   Xie H, Surka M, Howard J and Trimble WS.
  TITLE     Characterization of the mammalian septin H5: distinct patterns of
            cytoskeletal and membrane association from other septin proteins
  JOURNAL   Cell Motil Cytoskeleton 43 (1), 52-62 (1999)
   PUBMED   10340703
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK301914.1 and AF073312.1.
            
            Summary: This gene is a member of the septin family of nucleotide
            binding proteins, originally described in yeast as cell division
            cycle regulatory proteins. Septins are highly conserved in yeast,
            Drosophila, and mouse, and appear to regulate cytoskeletal
            organization. Disruption of septin function disturbs cytokinesis
            and results in large multinucleate or polyploid cells. This gene is
            highly expressed in brain and heart. Alternatively spliced
            transcript variants encoding different isoforms have been described
            for this gene. One of the isoforms (known as ARTS) is distinct; it
            is localized to the mitochondria, and has a role in apoptosis and
            cancer. [provided by RefSeq, Nov 2010].
            
            Transcript Variant: This variant (4) lacks an alternate 5' exon
            compared to variant 7, resulting in translation initiation from an
            alternate start codon and a shorter isoform (4) with a distinct
            N-terminus compared to isoform 5. This variant appears to be
            testis-specific.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302146.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 11146656; reported by
                                                  MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..470
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q22"
     Protein         1..470
                     /product="septin-4 isoform 4"
                     /note="septin-M; cell division control-related protein 2;
                     cerebral protein 7; CE5B3 beta; bradeion beta; brain
                     protein H5; peanut-like protein 2; apoptosis-related
                     protein in the TGF-beta signaling pathway; uncharacterized
                     protein C17orf47"
                     /calculated_mol_wt=54167
     Region          134..406
                     /region_name="Septin"
                     /note="pfam00735"
                     /db_xref="CDD:395596"
     Site            143..150
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206649"
     Site            order(145..151,200,203,281..282,284,340..341)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206649"
     Site            175..183
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206649"
     Site            177
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206649"
     Site            200..203
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206649"
     Site            order(202..237,238..247)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206649"
     Site            281..284
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206649"
     Site            340..342
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206649"
     CDS             1..470
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4"
                     /coded_by="NM_001198713.2:118..1530"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS56041.1"
                     /db_xref="GeneID:5414"
                     /db_xref="HGNC:HGNC:9165"
                     /db_xref="MIM:603696"
ORIGIN      
        1 mpgfysvmtd eeikrfledt tddgelskfv kdfsgnasch ppeaktwasr pqvpeprpqa
       61 pdlydddlef rppsrpqssd nqqyfcapap lspsarprsp wgkldpydss eddkeyvgfa
      121 tlpnqvhrks vkkgfdftlm vagesglgks tlvnslfltd lyrdrkllga eerimqtvei
      181 tkhavdieek gvrlrltivd tpgfgdavnn tecwkpvaey idqqfeqyfr desglnrkni
      241 qdnrvhccly fispfghglr pldvefmkal hqrvnivpil akadtltppe vdhkkrkire
      301 eiehfgikiy qfpdcdsded edfklqdqal kesipfavig sntvveargr rvrgrlypwg
      361 ivevenpghc dfvklrtmlv rthmqdlkdv trethyenyr aqciqsmtrl vvkernrnkl
      421 tresgtdfpi pavppgtdpe teklirekde elrrmqemlh kiqkqmkeny
//
LOCUS       NP_002494                356 aa            linear   PRI 24-DEC-2022
DEFINITION  NF-kappa-B inhibitor beta isoform 1 [Homo sapiens].
ACCESSION   NP_002494
VERSION     NP_002494.2
DBSOURCE    REFSEQ: accession NM_002503.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 356)
  AUTHORS   Goos H, Kinnunen M, Salokas K, Tan Z, Liu X, Yadav L, Zhang Q, Wei
            GH and Varjosalo M.
  TITLE     Human transcription factor protein interaction networks
  JOURNAL   Nat Commun 13 (1), 766 (2022)
   PUBMED   35140242
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 356)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 356)
  AUTHORS   Shoji S, Hanada K, Takahashi M, Watanabe K, Yonemochi M, Tomabechi
            Y and Shirouzu M.
  TITLE     The NF-kappaB regulator IkappaBbeta exhibits different molecular
            interactivity and phosphorylation status from IkappaBalpha in an
            IKK2-catalysed reaction
  JOURNAL   FEBS Lett 594 (10), 1532-1549 (2020)
   PUBMED   32017069
  REMARK    GeneRIF: The NF-kappaB regulator IkappaBbeta exhibits different
            molecular interactivity and phosphorylation status from
            IkappaBalpha in an IKK2-catalysed reaction.
REFERENCE   4  (residues 1 to 356)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 356)
  AUTHORS   Othumpangat S, Bryan NB, Beezhold DH and Noti JD.
  TITLE     Upregulation of miRNA-4776 in Influenza Virus Infected Bronchial
            Epithelial Cells Is Associated with Downregulation of NFKBIB and
            Increased Viral Survival
  JOURNAL   Viruses 9 (5), 94 (2017)
   PUBMED   28448456
  REMARK    GeneRIF: data suggest that miRNA-4776 modulates Influenza A virus
            production in infected cells through NFKBIB expression, possibly
            through the modulation of NF-kappaB.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 356)
  AUTHORS   Suyang H, Phillips R, Douglas I and Ghosh S.
  TITLE     Role of unphosphorylated, newly synthesized I kappa B beta in
            persistent activation of NF-kappa B
  JOURNAL   Mol Cell Biol 16 (10), 5444-5449 (1996)
   PUBMED   8816457
REFERENCE   7  (residues 1 to 356)
  AUTHORS   Beauparlant P, Kwon H, Clarke M, Lin R, Sonenberg N, Wainberg M and
            Hiscott J.
  TITLE     Transdominant mutants of I kappa B alpha block Tat-tumor necrosis
            factor synergistic activation of human immunodeficiency virus type
            1 gene expression and virus multiplication
  JOURNAL   J Virol 70 (9), 5777-5785 (1996)
   PUBMED   8709193
REFERENCE   8  (residues 1 to 356)
  AUTHORS   DiDonato J, Mercurio F, Rosette C, Wu-Li J, Suyang H, Ghosh S and
            Karin M.
  TITLE     Mapping of the inducible IkappaB phosphorylation sites that signal
            its ubiquitination and degradation
  JOURNAL   Mol Cell Biol 16 (4), 1295-1304 (1996)
   PUBMED   8657102
REFERENCE   9  (residues 1 to 356)
  AUTHORS   Harhaj E, Blaney J, Millhouse S and Sun SC.
  TITLE     Differential effects of I kappa B molecules on Tat-mediated
            transactivation of HIV-1 LTR
  JOURNAL   Virology 216 (1), 284-287 (1996)
   PUBMED   8615004
REFERENCE   10 (residues 1 to 356)
  AUTHORS   Lee JW, Choi HS, Gyuris J, Brent R and Moore DD.
  TITLE     Two classes of proteins dependent on either the presence or absence
            of thyroid hormone for interaction with the thyroid hormone
            receptor
  JOURNAL   Mol Endocrinol 9 (2), 243-254 (1995)
   PUBMED   7776974
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA633677.1, BC015528.1 and
            AI684894.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 10, 2002 this sequence version replaced NP_002494.1.
            
            Summary: The protein encoded by this gene belongs to the NF-kappa-B
            inhibitor family, which inhibit NF-kappa-B by complexing with, and
            trapping it in the cytoplasm. Phosphorylation of serine residues on
            these proteins by kinases marks them for destruction via the
            ubiquitination pathway, thereby allowing activation of the
            NF-kappa-B, which translocates to the nucleus to function as a
            transcription factor. Alternatively spliced transcript variants
            have been found for this gene.[provided by RefSeq, Jul 2011].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.297667.1,
                                           SRR1163655.559868.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313582.6/ ENSP00000312988.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..356
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     Protein         1..356
                     /product="NF-kappa-B inhibitor beta isoform 1"
                     /note="NF-kappa-B inhibitor beta; ikB-B; nuclear factor of
                     kappa light polypeptide gene enhancer in B-cells
                     inhibitor, beta; TRIP-9; ikB-beta; ikappaBbeta;
                     NF-kappa-BIB; I-kappa-B-beta; TR-interacting protein 9;
                     thyroid receptor-interacting protein 9"
                     /calculated_mol_wt=37640
     Site            19
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by RPS6KA1.
                     /evidence=ECO:0000269|PubMed:8657102; propagated from
                     UniProtKB/Swiss-Prot (Q15653.2)"
     Site            23
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by RPS6KA1.
                     /evidence=ECO:0000269|PubMed:8657102; propagated from
                     UniProtKB/Swiss-Prot (Q15653.2)"
     Region          <57..148
                     /region_name="ANKYR"
                     /note="Ankyrin repeat [Signal transduction mechanisms];
                     COG0666"
                     /db_xref="CDD:223738"
     Site            order(57,59,63..64,67..69,71..72,76,79,91,93,95,99..100,
                     103..105,107..108,112,115,124,126,128,132..133,136..138,
                     140..141,145,148)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          57..91
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          57..86
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15653.2)"
     Region          93..124
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          93..122
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15653.2)"
     Region          126..155
                     /region_name="ANK 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15653.2)"
     Region          149..193
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15653.2)"
     Site            183
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q15653.2)"
     Region          203..>298
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Site            order(206,208,212..213,216..218,220..221,225,228,237,239,
                     242,246..247,250..252,254..255,259,262,271,273,275,
                     279..280,283..285,287..288,292,295)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          206..237
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          206..235
                     /region_name="ANK 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15653.2)"
     Region          239..271
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          240..269
                     /region_name="ANK 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15653.2)"
     Region          273..302
                     /region_name="ANK 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15653.2)"
     Region          273..298
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          298..356
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15653.2)"
     Site            313
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:8887627; propagated from
                     UniProtKB/Swiss-Prot (Q15653.2)"
     Site            315
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:8887627; propagated from
                     UniProtKB/Swiss-Prot (Q15653.2)"
     CDS             1..356
                     /gene="NFKBIB"
                     /gene_synonym="IKBB; TRIP9"
                     /coded_by="NM_002503.5:65..1135"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS12524.1"
                     /db_xref="GeneID:4793"
                     /db_xref="HGNC:HGNC:7798"
                     /db_xref="MIM:604495"
ORIGIN      
        1 magvaclgka adadewcdsg lgslgpdaaa pggpglgael gpglswaplv fgyvtedgdt
       61 alhlavihqh epfldfllgf sagteymdlq ndlgqtalhl aailgetstv eklyaagagl
      121 cvaerrghta lhlacrvgah acarallqpr prrpreapdt ylaqgpdrtp dtnhtpvaly
      181 pdsdlekeee eseedwklql eaenyeghtp lhvavihkdv emvrllrdag adldkpeptc
      241 grsplhlave aqaadvlell lraganpaar myggrtplgs amlrpnpila rllrahgape
      301 pegedeksgp cssssdsdsg degdeyddiv vhssrsqtrl pptpaskplp ddprpv
//
LOCUS       NP_115517                558 aa            linear   PRI 24-DEC-2022
DEFINITION  nuclear speckle splicing regulatory protein 1 isoform 1 [Homo
            sapiens].
ACCESSION   NP_115517
VERSION     NP_115517.1
DBSOURCE    REFSEQ: accession NM_032141.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 558)
  AUTHORS   Zhao Y, Sun H, Zhao Y, Liu Q, Liu Y, Hou Y and Jin W.
  TITLE     NSrp70 suppresses metastasis in triple-negative breast cancer by
            modulating Numb/TbetaR1/EMT axis
  JOURNAL   Oncogene 41 (25), 3409-3422 (2022)
   PUBMED   35568738
  REMARK    GeneRIF: NSrp70 suppresses metastasis in triple-negative breast
            cancer by modulating Numb/TbetaR1/EMT axis.
REFERENCE   2  (residues 1 to 558)
  AUTHORS   Calame DG, Bakhtiari S, Logan R, Coban-Akdemir Z, Du H, Mitani T,
            Fatih JM, Hunter JV, Herman I, Pehlivan D, Jhangiani SN, Person R,
            Schnur RE, Jin SC, Bilguvar K, Posey JE, Koh S, Firouzabadi SG,
            Alehabib E, Tafakhori A, Esmkhani S, Gibbs RA, Noureldeen MM, Zaki
            MS, Marafi D, Darvish H, Kruer MC and Lupski JR.
  TITLE     Biallelic loss-of-function variants in the splicing regulator NSRP1
            cause a severe neurodevelopmental disorder with spastic cerebral
            palsy and epilepsy
  JOURNAL   Genet Med 23 (12), 2455-2460 (2021)
   PUBMED   34385670
  REMARK    GeneRIF: Biallelic loss-of-function variants in the splicing
            regulator NSRP1 cause a severe neurodevelopmental disorder with
            spastic cerebral palsy and epilepsy.
REFERENCE   3  (residues 1 to 558)
  AUTHORS   Kim CH, Kim YD, Choi EK, Kim HR, Na BR, Im SH and Jun CD.
  TITLE     Nuclear Speckle-related Protein 70 Binds to Serine/Arginine-rich
            Splicing Factors 1 and 2 via an Arginine/Serine-like Region and
            Counteracts Their Alternative Splicing Activity
  JOURNAL   J Biol Chem 291 (12), 6169-6181 (2016)
   PUBMED   26797131
  REMARK    GeneRIF: NSrp70 acts as a new molecular counterpart for alternative
            splicing of target RNA, counteracting SRSF1 and SRSF2 splicing
            activity.
REFERENCE   4  (residues 1 to 558)
  AUTHORS   Xie J, Gizatullin R, Vukojevic V and Leopardi R.
  TITLE     The CCDC55 couples cannabinoid receptor CNR1 to a putative DISC1
            schizophrenia pathway
  JOURNAL   Neuroscience 310, 723-730 (2015)
   PUBMED   26475744
  REMARK    GeneRIF: Coiled coil domain-containing 55 gene may be involved in a
            functional bridging between the CNR1 activation and the disrupted
            in schizophrenia 1/Ran binding protein 9-associated pathways.
REFERENCE   5  (residues 1 to 558)
  AUTHORS   Choi DB, Park MR, Kim HR, Jun CD, Kim HJ, Shim H, Kim YD, Choi C,
            Choi KH, Yun KJ, Chae SC, Park R, Choe SK, Lee YJ and Park DS.
  TITLE     Aberrant proteomic expression of NSRP70 and its clinical
            implications and connection to the transcriptional level in adult
            acute leukemia
  JOURNAL   Leuk Res 38 (10), 1252-1259 (2014)
   PUBMED   25176346
  REMARK    GeneRIF: We showed that NSRP70 is a novel lymphoblastic acute
            leukemia surrogate marker
REFERENCE   6  (residues 1 to 558)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   7  (residues 1 to 558)
  AUTHORS   Kim YD, Lee JY, Oh KM, Araki M, Araki K, Yamamura K and Jun CD.
  TITLE     NSrp70 is a novel nuclear speckle-related protein that modulates
            alternative pre-mRNA splicing in vivo
  JOURNAL   Nucleic Acids Res 39 (10), 4300-4314 (2011)
   PUBMED   21296756
REFERENCE   8  (residues 1 to 558)
  AUTHORS   Horikawa Y, Wood CG, Yang H, Zhao H, Ye Y, Gu J, Lin J, Habuchi T
            and Wu X.
  TITLE     Single nucleotide polymorphisms of microRNA machinery genes modify
            the risk of renal cell carcinoma
  JOURNAL   Clin Cancer Res 14 (23), 7956-7962 (2008)
   PUBMED   19047128
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 558)
  AUTHORS   Beausoleil SA, Villen J, Gerber SA, Rush J and Gygi SP.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
REFERENCE   10 (residues 1 to 558)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC327004.1, BC105044.1, AL136806.1 and AA811439.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL136806.1, SRR3476690.918857.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000247026.10/ ENSP00000247026.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..558
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     Protein         1..558
                     /product="nuclear speckle splicing regulatory protein 1
                     isoform 1"
                     /note="coiled-coil domain containing 55; coiled-coil
                     domain-containing protein 55; nuclear speckle-related
                     protein 70"
                     /calculated_mol_wt=66259
     Region          21..54
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H0G5.1)"
     Site            27
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9H0G5.1)"
     Site            33
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9H0G5.1)"
     Region          58..177
                     /region_name="DUF2040"
                     /note="Coiled-coil domain-containing protein 55 (DUF2040);
                     pfam09745"
                     /db_xref="CDD:430796"
     Region          106..170
                     /region_name="Necessary for alternative splicing activity"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H0G5.1)"
     Region          204..534
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H0G5.1)"
     Site            248
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9H0G5.1)"
     Site            254
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q9H0G5.1)"
     Site            255
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q9H0G5.1)"
     Site            275
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H0G5.1)"
     Region          290..>452
                     /region_name="PRK12678"
                     /note="transcription termination factor Rho; Provisional"
                     /db_xref="CDD:237171"
     Site            457
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q4FZU3; propagated from
                     UniProtKB/Swiss-Prot (Q9H0G5.1)"
     CDS             1..558
                     /gene="NSRP1"
                     /gene_synonym="CCDC55; HSPC095; NEDSSBA; NSrp70"
                     /coded_by="NM_032141.4:29..1705"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS11255.1"
                     /db_xref="GeneID:84081"
                     /db_xref="HGNC:HGNC:25305"
                     /db_xref="MIM:616173"
ORIGIN      
        1 maipgrqygl ilpkktqqlh pvlqkpsvfg ndsddddets vseslqreaa kkqamkqtkl
       61 eiqkalaeda tvyeydsiyd emqkkkeenn pklllgkdrk pkyihnllka veirkkeqek
      121 rmekkiqrer emekgefddk eafvtsaykk klqeraeeee rekraaalea cldvtkqkdl
      181 sgfyrhllnq avgeeevpkc sfrearsgik eeksrgfsne vssknripqe kcilqtdvkv
      241 eenpdadsdf dakssaddei eetrvncrre kvietpendf khhrsqnhsr spseerghst
      301 rhhtkgsrts rghekredqh qqkqsrdqen hytdrdyrke rdshrhreas hrdshwkrhe
      361 qedkprardq rersdrvwkr ekdrekysqr eqerdrqqnd qnrpsekgek eekskakeeh
      421 mkvrkeryen ndkyrdrekr evgvqssern qdrkesspns rakdkfldqe rsnkmrnmak
      481 dkernqekps nsesslgakh rlteegqekg keqerppeav skfakrnnee tvmsardryl
      541 arqmarvnak tyiekedd
//
LOCUS       XP_047281614             317 aa            linear   PRI 20-MAR-2023
DEFINITION  palmitoyltransferase ZDHHC6 isoform X7 [Homo sapiens].
ACCESSION   XP_047281614
VERSION     XP_047281614.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425658.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..317
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..317
                     /product="palmitoyltransferase ZDHHC6 isoform X7"
                     /calculated_mol_wt=36309
     Region          95..241
                     /region_name="DHHC"
                     /note="DHHC palmitoyltransferase; pfam01529"
                     /db_xref="CDD:396215"
     CDS             1..317
                     /gene="ZDHHC6"
                     /gene_synonym="DHHC-6; DHHC6; ZNF376"
                     /coded_by="XM_047425658.1:425..1378"
                     /db_xref="GeneID:64429"
                     /db_xref="HGNC:HGNC:19160"
                     /db_xref="MIM:618715"
ORIGIN      
        1 mgtfcsvikf enlqelkrlc hwgpiialgv iaicstmami dsvlwywplh ttggsvnfim
       61 linwtvmily nyfnamfvgp gfvplgwkpe isqdtmylqy ckvcqaykap rshhcrkcnr
      121 cvmkmdhhcp winnccgyqn hasftlflll aplgcihaaf ifvmtmytql yhrlsfgwnt
      181 vkidmsaarr dplpivpfgl aafattlfal glalgttiav gmlffiqmki ilrnktsies
      241 wieekakdri qyyqldevfv fpydmgsrwr nfkqvftwsg vpegdglewp vregchqysl
      301 tfvchvstes vnlsvft
//
LOCUS       XP_047285476            1859 aa            linear   PRI 20-MAR-2023
DEFINITION  voltage-dependent L-type calcium channel subunit alpha-1C isoform
            X27 [Homo sapiens].
ACCESSION   XP_047285476
VERSION     XP_047285476.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429520.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1859
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1859
                     /product="voltage-dependent L-type calcium channel subunit
                     alpha-1C isoform X27"
                     /calculated_mol_wt=209292
     Region          <1..148
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          255..496
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          631..908
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          950..1208
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1217..1270
                     /region_name="GPHH"
                     /note="Voltage-dependent L-type calcium channel,
                     IQ-associated; pfam16905"
                     /db_xref="CDD:435642"
     Region          1280..1354
                     /region_name="Ca_chan_IQ"
                     /note="Voltage gated calcium channel IQ domain; pfam08763"
                     /db_xref="CDD:430200"
     Region          1374..1809
                     /region_name="CAC1F_C"
                     /note="Voltage-gated calcium channel subunit alpha,
                     C-term; pfam16885"
                     /db_xref="CDD:435629"
     CDS             1..1859
                     /gene="CACNA1C"
                     /gene_synonym="CACH2; CACN2; CACNA1C-IT2; CACNL1A1;
                     CaV1.2; CCHL1A1; LQT8; NEDHLSS; TS; TS. LQT8"
                     /coded_by="XM_047429520.1:2555..8134"
                     /db_xref="GeneID:775"
                     /db_xref="HGNC:HGNC:1390"
                     /db_xref="MIM:114205"
ORIGIN      
        1 mvpllhiall vlfviiiyai iglelfmgkm hktcynqegi aeddpspcal etghgrqcqn
       61 gtvckpgwdg pkhgitnfdn fafamltvfq citmegwtdv lywvndavgr dwpwiyfvtl
      121 iiigsffvln lvlgvlsgef skerekakar gdfqklrekq qleedlkgyl dwitqaedid
      181 penedegmde ekprnmsmpt setesvnten vaggdiegen cgarlahris kskfsrywrr
      241 wnrfcrrkcr aavksnvfyw lviflvflnt ltiasehynq pnwltevqdt ankallalft
      301 aemllkmysl glqayfvslf nrfdcfvvcg giletilvet kimsplgisv lrcvrllrif
      361 kitrywnsls nlvasllnsv rsiaslllll flfiiifsll gmqlfggkfn fdemqtrrst
      421 fdnfpqsllt vfqiltgedw nsvmydgima yggpsfpgml vciyfiilfi cgnyillnvf
      481 laiavdnlad aesltsaqke eeeekerkkl artaspekkq elvekpavge skeekielks
      541 itadgesppa tkinmddlqp nenedkspyp npettgeede eepempvgpr prplselhlk
      601 ekavpmpeas affifssnnr frlqchrivn dtiftnlilf fillssisla aedpvqhtsf
      661 rnhilfyfdi vfttiftiei alkmtaygaf lhkgsfcrny fnildllvvs vslisfgiqs
      721 sainvvkilr vlrvlrplra inrakglkhv vqcvfvairt ignivivttl lqfmfacigv
      781 qlfkgklytc sdsskqteae ckgnyitykd gevdhpiiqp rswenskfdf dnvlaammal
      841 ftvstfegwp ellyrsidsh tedkgpiyny rveisiffii yiiiiaffmm nifvgfvivt
      901 fqeqgeqeyk nceldknqrq cveyalkarp lrryipknqh qykvwyvvns tyfeylmfvl
      961 illnticlam qhygqsclfk iamnilnmlf tglftvemil kliafkpkhy fcdawntfda
     1021 livvgsivdi aitevnnaee nsrisitffr lfrvmrlvkl lsrgegirtl lwtfiksfqa
     1081 lpyvallivm lffiyavigm qvfgkialnd tteinrnnnf qtfpqavlll frcatgeawq
     1141 dimlacmpgk kcapesepsn stegetpcgs sfavfyfisf ymlcafliin lfvavimdnf
     1201 dyltrdwsil gphhldefkr iwaeydpeak grikhldvvt llrriqpplg fgklcphrva
     1261 ckrlvsmnmp lnsdgtvmfn atlfalvrta lriktegnle qaneelraii kkiwkrtsmk
     1321 lldqvvppag ddevtvgkfy atfliqeyfr kfkkrkeqgl vgkpsqrnal slqaglrtlh
     1381 digpeirrai sgdltaeeel dkamkeavsa aseddifrra gglfgnhvsy yqsdgrsafp
     1441 qtfttqrplh inkagssqgd tespsheklv dstftpssys stgsnaninn anntalgrlp
     1501 rpagypstvs tveghgppls pairvqevaw klssnrchsr esqaamagqe etsqdetyev
     1561 kmnhdteacs epsllsteml syqddenrql tlpeedkrdi rqspkrgflr saslgrrasf
     1621 hleclkrqkd rggdisqktv lplhlvhhqa lavaglspll qrshspasfp rpfatppatp
     1681 gsrgwppqpv ptlrlegves seklnssfps ihcgswaett pggggssaar rvrpvslmvp
     1741 sqagapgrqf hgsasslvea vliseglgqf aqdpkfievt tqeladacdm tieemesaad
     1801 nilsggapqs pngallpfvn crdagqdrag geedagcvra rgrpseeelq dsrvyvssl
//
LOCUS       XP_016877935             468 aa            linear   PRI 20-MAR-2023
DEFINITION  immunoglobulin superfamily containing leucine-rich repeat protein 2
            isoform X2 [Homo sapiens].
ACCESSION   XP_016877935
VERSION     XP_016877935.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017022446.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..468
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..468
                     /product="immunoglobulin superfamily containing
                     leucine-rich repeat protein 2 isoform X2"
                     /calculated_mol_wt=49391
     Region          36..52
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <52..>183
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:227223"
     Region          53..76
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          77..100
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          101..124
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          125..148
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          149..172
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          154..>228
                     /region_name="PCC"
                     /note="polycystin cation channel protein; TIGR00864"
                     /db_xref="CDD:188093"
     Region          232..359
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          256..260
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          269..273
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          338..342
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          <350..372
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          352..357
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          365..368
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..468
                     /gene="ISLR2"
                     /gene_synonym="LINX"
                     /coded_by="XM_017022446.3:187..1593"
                     /db_xref="GeneID:57611"
                     /db_xref="HGNC:HGNC:29286"
                     /db_xref="MIM:614179"
ORIGIN      
        1 mfplralwlv wallgvagsc pepcacvdky ahqfadcayk elrevpeglp anvttlslsa
       61 nkitvlrrga fadvtqvtsl wlahnevrtv epgalavlsq lknldlshnf issfpwsdlr
      121 nlsalqllkm nhnrlgslpr dalgalpdlr slrinnnrlr tlapgtfdal salshlqlyh
      181 npfhcgcglv wlqawaastr vslpepdsia casppalqgv pvyrlpalpc appsvhlsae
      241 ppleapgtpl raglafvlhc iadghptprl qwqlqipggt vvleppvlsg eddgvgaeeg
      301 egegdgdllt qtqaqtptpa pawpappatp rflalangsl lvpllsakea gvytcrahne
      361 lganstsirv avaatgppkh apgaggepdg qaptserkst akgrgnsvlp skpegkikgq
      421 glakvsilge tetepeedts egeeaedqil adpaeeqrcg ngdpsrhy
//
LOCUS       XP_011521601             376 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-dependent noradrenaline transporter isoform X6 [Homo
            sapiens].
ACCESSION   XP_011521601
VERSION     XP_011521601.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523299.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..376
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..376
                     /product="sodium-dependent noradrenaline transporter
                     isoform X6"
                     /calculated_mol_wt=42039
     Region          <1..374
                     /region_name="SLC5-6-like_sbd"
                     /note="Solute carrier families 5 and 6-like; solute
                     binding domain; cl00456"
                     /db_xref="CDD:444915"
     CDS             1..376
                     /gene="SLC6A2"
                     /gene_synonym="NAT1; NET; NET1; SLC6A5"
                     /coded_by="XM_011523299.3:464..1594"
                     /db_xref="GeneID:6530"
                     /db_xref="HGNC:HGNC:11048"
                     /db_xref="MIM:163970"
ORIGIN      
        1 mvvvivlyfs lwkgvktsgk vvwitatlpy fvlfvllvhg vtlpgasngi naylhidfyr
       61 lkeatvwida atqiffslga gfgvliafas ynkfdnncyr dalltssinc itsfvsgfai
      121 fsilgymahe hkvniedvat egaglvfily peaistlsgs tfwavvffvm llalgldssm
      181 ggmeavitgl addfqvlkrh rklftfgvtf stfllalfci tkggiyvltl ldtfaagtsi
      241 lfavlmeaig vswfygvdrf sndiqqmmgf rpglywrlcw kfvspafllf vvvvsiinfk
      301 pltyddyifp pwanwvgwgi alssmvlvpi yviykflstq gslwerlayg itpenehhlv
      361 aqrdirqfql qhwlai
//
LOCUS       XP_006722013             384 aa            linear   PRI 20-MAR-2023
DEFINITION  septin-4 isoform X6 [Homo sapiens].
ACCESSION   XP_006722013
VERSION     XP_006722013.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006721950.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..384
                     /product="septin-4 isoform X6"
                     /calculated_mol_wt=44100
     Region          48..320
                     /region_name="Septin"
                     /note="pfam00735"
                     /db_xref="CDD:395596"
     Site            57..64
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206649"
     Site            order(59..65,114,117,195..196,198,254..255)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206649"
     Site            89..97
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206649"
     Site            91
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206649"
     Site            114..117
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206649"
     Site            order(116..151,152..161)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206649"
     Site            195..198
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206649"
     Site            254..256
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206649"
     CDS             1..384
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4"
                     /coded_by="XM_006721950.5:98..1252"
                     /db_xref="GeneID:5414"
                     /db_xref="HGNC:HGNC:9165"
                     /db_xref="MIM:603696"
ORIGIN      
        1 mgpvptsfgk rrggpqtlpa spggmddkey vgfatlpnqv hrksvkkgfd ftlmvagesg
       61 lgkstlvnsl fltdlyrdrk llgaeerimq tveitkhavd ieekgvrlrl tivdtpgfgd
      121 avnntecwkp vaeyidqqfe qyfrdesgln rkniqdnrvh cclyfispfg hglrpldvef
      181 mkalhqrvni vpilakadtl tppevdhkkr kireeiehfg ikiyqfpdcd sdededfklq
      241 dqalkesipf avigsntvve argrrvrgrl ypwgiveven pghcdfvklr tmlvrthmqd
      301 lkdvtrethy enyraqciqs mtrlvvkern rnkltresgt dfpipavppg tdpeteklir
      361 ekdeelrrmq emlhkiqkqm keny
//
LOCUS       XP_047295058             276 aa            linear   PRI 20-MAR-2023
DEFINITION  kallikrein-10 isoform X1 [Homo sapiens].
ACCESSION   XP_047295058
VERSION     XP_047295058.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439102.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..276
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..276
                     /product="kallikrein-10 isoform X1"
                     /calculated_mol_wt=30039
     Region          49..272
                     /region_name="Tryp_SPc"
                     /note="Trypsin-like serine protease; Many of these are
                     synthesized as inactive precursor zymogens that are
                     cleaved during limited proteolysis to generate their
                     active forms. Alignment contains also inactive enzymes
                     that have substitutions of the catalytic triad...;
                     cd00190"
                     /db_xref="CDD:238113"
     Site            order(86,137,229)
                     /site_type="active"
                     /db_xref="CDD:238113"
     Site            order(223,244,246)
                     /site_type="other"
                     /note="substrate binding sites [chemical binding]"
                     /db_xref="CDD:238113"
     CDS             1..276
                     /gene="KLK10"
                     /gene_synonym="NES1; PRSSL1"
                     /coded_by="XM_047439102.1:40..870"
                     /db_xref="GeneID:5655"
                     /db_xref="HGNC:HGNC:6358"
                     /db_xref="MIM:602673"
ORIGIN      
        1 mraphlhlsa asgaralakl lpllmaqlwa aeaallpqnd trldpeaygs pcargsqpwq
       61 vslfnglsfh cagvlvdqsw vltaahcgnk plwarvgddh llllqgeqlr rttrsvvhpk
      121 yhqgsgpilp rrtdehdlml lklarpvvlg prvralqlpy rcaqpgdqcq vagwgttaar
      181 rvkynkgltc ssitilspke cevfypgvvt nnmicagldr gqdpcqsdsg gplvcdetlq
      241 gilswgvypc gsaqhpavyt qickymswin kvirsn
//
LOCUS       XP_024307405             610 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 667 isoform X1 [Homo sapiens].
ACCESSION   XP_024307405
VERSION     XP_024307405.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024451637.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..610
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..610
                     /product="zinc finger protein 667 isoform X1"
                     /calculated_mol_wt=70030
     Region          15..74
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          141..601
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          146..166
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(151,153,155,157..158,161..162,165,179,181,185..186,
                     189..190,193,207,209,211,213..214,217..218,221)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          174..194
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          202..222
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          255..275
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          284..303
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          332..352
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(337,339,341,343..344,347..348,351,365,367,371..372,
                     375..376,379,393,395,397,399..400,403..404,407)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          360..380
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          388..408
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          417..437
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          445..465
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          473..493
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          501..521
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(506,508,510,512..513,516..517,520,534,536,540..541,
                     544..545,548,562,564,566,568..569,572..573,576)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          529..549
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          557..577
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          585..605
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..610
                     /gene="ZNF667"
                     /gene_synonym="MIPU1"
                     /coded_by="XM_024451637.2:121..1953"
                     /db_xref="GeneID:63934"
                     /db_xref="HGNC:HGNC:28854"
                     /db_xref="MIM:611024"
ORIGIN      
        1 mpsargksks kapitfgdla iyfsqeewew lspiqkdlye dvmlenyrnl vslglsfrrp
       61 nvitllekgk apwmvepvrr rrapdsgskc etkklppnqc nksgqsicqk lvsaqqkapt
      121 rksgcnknsv lvkpkkghsg kkplkcndcg ktfsrsfslk lhqnihtgek pfecsncrka
      181 frqissillh qrihsgkksh ecnkcgesfn qrttlilhmr ihdgkeildc gkalsqcqsf
      241 nihqkihvvg nvcqcrkcgk afnqmsslll hkkihngkkt hkynkcgrgf kkksvfvvhk
      301 rihagekipe nakalsqslq qrshhlenpf kcrkcgklfn risplmlhqr ihtsekpykc
      361 dkcdkffrrl stlilhlrih ngeklyrcnk cekvcnrhss liqhqkvhtk kkklfeckec
      421 gkmfsgtanl kihqnihsee kpfkcnkcsk vfgrqsflie hqrihtgekp yqceecgkaf
      481 shrisltrhk rihtedrpye cdqcgkafsq sahlaqheri htgekpytck tcgkafsqrt
      541 slilhersht gekpyecnec gkafssgsdl irhqrshsse kpyecskcgk aysrssslir
      601 hqnthseeka
//
LOCUS       XP_011515109             119 aa            linear   PRI 20-MAR-2023
DEFINITION  protein MAL2 isoform X1 [Homo sapiens].
ACCESSION   XP_011515109
VERSION     XP_011515109.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011516807.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..119
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..119
                     /product="protein MAL2 isoform X1"
                     /calculated_mol_wt=12686
     Region          <44..112
                     /region_name="MARVEL"
                     /note="Membrane-associating domain; pfam01284"
                     /db_xref="CDD:366555"
     CDS             1..119
                     /gene="MAL2"
                     /coded_by="XM_011516807.3:111..470"
                     /db_xref="GeneID:114569"
                     /db_xref="HGNC:HGNC:13634"
                     /db_xref="MIM:609684"
ORIGIN      
        1 msaggasvpp ppnpavsfpp prvtlpagpd ilrtysgafv cleidfayhf tvfvfyfgaf
       61 lleaaatslh dlhcnttitg qpllsdnqyn invaasifaf mttacygcsl glalrrwrp
//
LOCUS       XP_047277957             808 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 45 member 4 isoform X2 [Homo sapiens].
ACCESSION   XP_047277957
VERSION     XP_047277957.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422001.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..808
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..808
                     /product="solute carrier family 45 member 4 isoform X2"
                     /calculated_mol_wt=88546
     Region          52..>270
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     Region          <497..709
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     CDS             1..808
                     /gene="SLC45A4"
                     /coded_by="XM_047422001.1:948..3374"
                     /db_xref="GeneID:57210"
                     /db_xref="HGNC:HGNC:29196"
                     /db_xref="MIM:619581"
ORIGIN      
        1 mkmapqnadp esmqvqelsv plpdpqkagg aeaencetis egsidripmr lwvmhgavmf
       61 grefcyamet alvtpillqi glpeqyyslt wflspilgli ftpligsasd rctlswgrrr
      121 pfilalcvgv lfgvalflng saiglalgdv pnrqpigivl tvlgvvvldf sadategpir
      181 aylldvvdse eqdmalniha fsaglggaig yvlggldwtq tflgswfrtq nqvlfffaai
      241 iftvsvalhl fsideeqysp qqersaeepg aldggephgv pafpdevqse helaldypdv
      301 dimrsksdsa lhvpdtaldl epellflhdi epsifhdasy patprstsqe laktklprla
      361 tflkeaaked etlldnhlne akvpngsgsp tkdalggytr vdtkpsatss smrrrrhafr
      421 rqasstfsyy gklgshcyry rranavvlik psrsmsdlyd mqkrqrqhrh rnqsgattss
      481 gdteseegeg ettvrllwls mlkmprelmr lclchlltwf sviaeavfyt dfmgqvifeg
      541 dpkapsnsta wqaynagvkm gcwglviyaa tgaicsallq kyldnydlsv rviyvlgtlg
      601 fsvgtavmam fpnvyvamvt istmgivsms isycpyallg qyhdikqyih hspgnskrgf
      661 gidcailscq vyisqilvas alggvvdavg tvrvipmvas vgsflgflta tflviypnvs
      721 eeakeeqkgl ssplagegra ggnsekptvl kltrkeglqg pvetesvtpa gidvcqissh
      781 wlvpqllesi flydyfrkki ffstmwfs
//
LOCUS       XP_054236405             203 aa            linear   PRI 20-MAR-2023
DEFINITION  N-acetylglucosamine-6-phosphate deacetylase isoform X3 [Homo
            sapiens].
ACCESSION   XP_054236405
VERSION     XP_054236405.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380430.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..203
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..203
                     /product="N-acetylglucosamine-6-phosphate deacetylase
                     isoform X3"
                     /calculated_mol_wt=21310
     CDS             1..203
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /coded_by="XM_054380430.1:660..1271"
                     /db_xref="GeneID:51005"
                     /db_xref="HGNC:HGNC:24262"
ORIGIN      
        1 mlpfhhrdpg ivglltsdrl pagrcifygm iadgthtnpa alriahrahp qglvlvtdai
       61 palglgngrh tlgqqevevd gltayvager pdplgprsqp acqvahdppr acplcsqgtk
      121 tlsgsiapmd vcvrhflqat gcsmesalea aslhpaqllg lekskgtldf gadadfvvld
      181 dslhvqatyi sgelvwqada arq
//
LOCUS       XP_054179461             292 aa            linear   PRI 20-MAR-2023
DEFINITION  oxidative stress-responsive serine-rich protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054179461
VERSION     XP_054179461.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323486.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..292
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..292
                     /product="oxidative stress-responsive serine-rich protein
                     1 isoform X1"
                     /calculated_mol_wt=31606
     CDS             1..292
                     /gene="OSER1"
                     /gene_synonym="C20orf111; dJ1183I21.1; HSPC207; Osr1;
                     Perit1"
                     /coded_by="XM_054323486.1:752..1630"
                     /db_xref="GeneID:51526"
                     /db_xref="HGNC:HGNC:16105"
ORIGIN      
        1 mkseakdgee eslqtafkkl rvdasgsvas lsvgegtgvr apvrtatddt kpkttcaskd
       61 swhgstrkss rgagrtqrrr rskspvlhpp kfihcstias ssssqlkhks qtdspdgssg
      121 lgisspkefs agesstslda nhtgavvepl rtsvprlpse skkedssdat qvpqaslkas
      181 dlsdfqsvsk lnqgkpctci gkecqckrwh dmevysfsgl qsvpplaper rstledysqs
      241 lhartlsgsp rscseqarvf vddvtiedls gymeyylyip kkmshmaemm yt
//
LOCUS       XP_054206950             180 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium/bile acid cotransporter 7 isoform X4 [Homo sapiens].
ACCESSION   XP_054206950
VERSION     XP_054206950.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350975.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..180
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..180
                     /product="sodium/bile acid cotransporter 7 isoform X4"
                     /calculated_mol_wt=19674
     CDS             1..180
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /coded_by="XM_054350975.1:224..766"
                     /db_xref="GeneID:84068"
                     /db_xref="HGNC:HGNC:23088"
                     /db_xref="MIM:611459"
ORIGIN      
        1 mrllermrkd wfmvgivlai agaklepsig vnggplkpei tvsyiavati ffnsglslkt
       61 eeltsalvhl klhlfiqift laffpatiwl flqllsitpi newllkglqt vgcmpppvss
      121 aviltkavgg necllksrmv vetvnvigfr vyfegtgyad eldvgcerkr gvkngfkvfg
//
LOCUS       XP_054208313             982 aa            linear   PRI 20-MAR-2023
DEFINITION  ankycorbin isoform X8 [Homo sapiens].
ACCESSION   XP_054208313
VERSION     XP_054208313.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352338.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..982
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..982
                     /product="ankycorbin isoform X8"
                     /calculated_mol_wt=110683
     CDS             1..982
                     /gene="RAI14"
                     /gene_synonym="NORPEG; RAI13"
                     /coded_by="XM_054352338.1:420..3368"
                     /db_xref="GeneID:26064"
                     /db_xref="HGNC:HGNC:14873"
                     /db_xref="MIM:606586"
ORIGIN      
        1 mnkpgseprp msgtrmmtgy crpwrmemrr rwphcsarrg pvppnttvra rprklkhcfh
       61 laaakghvec lrvmithgvd vtaqdttghs alhlaaknsh hecirkllqs kcpaesvdss
      121 gktalhyaaa qgclqavqil cehkspinlk dldgniplll avqnghseic hflldhgadv
      181 nsrnksgrta lmlaceigss navealikkg adlnlvdslg ynalhyskls enagiqslll
      241 skisqdadlk tptkpkqhdq vskissersg tpkkrkappp pisptqlsdv ssprsitstp
      301 lsgkesvffa eppfkaeiss irenkdrlsd sttgadslld isseadqqdl lsllqakvas
      361 ltlhnkelqd klqakspkea eadlsfdsyh stqtdlgpsl gkpgetsppd sksspsvlih
      421 slgksttdnd vriqqlqeil qdlqkrless eaerkqlqve lqsrraelvc lnnteisens
      481 sdlsqklket qskyeeamke vlsvqkqmkl glvspesmdn yshfhelrvt eeeinvlkqd
      541 lqnaleeser nkekvrelee klverekgtv ikppveeyee mkssycsvie nmnkekaflf
      601 ekyqeaqeei mklkdtlksq mtqeasdeae dmkeamnrmi delnkqvsel sqlykeaqae
      661 ledyrkrksl edvtaeyihk aeheklmqlt nvsrakaeda lsemksqysk vlneltqlkq
      721 lvdaqkensv sitehlqvit tlrtaakeme ekisnlkehl askevevakl ekqlleekaa
      781 mtdamvprss yeklqssles evsvlasklk esvkekekvh sevvqirsev sqvkrekeni
      841 qtllkskeqe vnellqkfqq aqeelaemkr yaesssklee dkdkkinems kevtklkeal
      901 nslsqlsyst ssskrqsqql ealqqqvkql qnqlaeckkq hqevisvyrm hllyavqgqm
      961 dedvqkvlkq iltmcknqsq kk
//
LOCUS       NP_001350662             589 aa            linear   PRI 26-MAR-2023
DEFINITION  deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 3
            [Homo sapiens].
ACCESSION   NP_001350662 XP_011527063
VERSION     NP_001350662.1
DBSOURCE    REFSEQ: accession NM_001363733.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 589)
  AUTHORS   D'Aronco G, Ferraro P, Sassano V, Dagostino C, Biancotto M, Palumbo
            E, Presot E, Russo A, Bianchi V and Rampazzo C.
  TITLE     SAMHD1 restricts the deoxyguanosine triphosphate pool contributing
            to telomere stability in telomerase-positive cells
  JOURNAL   FASEB J 37 (4), e22883 (2023)
   PUBMED   36934410
  REMARK    GeneRIF: SAMHD1 restricts the deoxyguanosine triphosphate pool
            contributing to telomere stability in telomerase-positive cells.
REFERENCE   2  (residues 1 to 589)
  AUTHORS   Gutierrez-Chamorro L, Felip E, Bernat-Peguera A, Ezeonwumelu IJ,
            Teruel I, Martinez-Cardus A, Clotet B, Riveira-Munoz E, Romeo M,
            Margeli M and Ballana E.
  TITLE     SAMHD1 expression modulates innate immune activation and correlates
            with ovarian cancer prognosis
  JOURNAL   Front Immunol 14, 1112761 (2023)
   PUBMED   36845138
  REMARK    GeneRIF: SAMHD1 expression modulates innate immune activation and
            correlates with ovarian cancer prognosis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 589)
  AUTHORS   Li Y, Gao Y, Jiang X, Cheng Y, Zhang J, Xu L, Liu X, Huang Z, Xie C
            and Gong Y.
  TITLE     SAMHD1 silencing cooperates with radiotherapy to enhance anti-tumor
            immunity through IFI16-STING pathway in lung adenocarcinoma
  JOURNAL   J Transl Med 20 (1), 628 (2022)
   PUBMED   36578072
  REMARK    GeneRIF: SAMHD1 silencing cooperates with radiotherapy to enhance
            anti-tumor immunity through IFI16-STING pathway in lung
            adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 589)
  AUTHORS   An N, Ge Q, Shao H, Li Q, Guo F, Liang C, Li X, Yi D, Yang L and
            Cen S.
  TITLE     Interferon-inducible SAMHD1 restricts viral replication through
            downregulation of lipid synthesis
  JOURNAL   Front Immunol 13, 1007718 (2022)
   PUBMED   36532074
  REMARK    GeneRIF: Interferon-inducible SAMHD1 restricts viral replication
            through downregulation of lipid synthesis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 589)
  AUTHORS   Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller
            JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR,
            Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K,
            Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B,
            Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L,
            Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W,
            Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi
            M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E,
            Whittaker E, Lebon P, Stetson DB, Bonthron DT and Crow YJ.
  TITLE     Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1
            as regulator of the innate immune response
  JOURNAL   Nat Genet 41 (7), 829-832 (2009)
   PUBMED   19525956
  REMARK    GeneRIF: Study describes mutations in SAMHD1 as the cause of
            Aicardi-Goutieres syndrome (AGS) at the AGS5 locus and present data
            to show that SAMHD1 may act as a negative regulator of the
            cell-intrinsic antiviral response.
REFERENCE   6  (residues 1 to 589)
  AUTHORS   Liao W, Bao Z, Cheng C, Mok YK and Wong WS.
  TITLE     Dendritic cell-derived interferon-gamma-induced protein mediates
            tumor necrosis factor-alpha stimulation of human lung fibroblasts
  JOURNAL   Proteomics 8 (13), 2640-2650 (2008)
   PUBMED   18546154
  REMARK    GeneRIF: SAMHD1 mediates TNF-alpha stimulation of lung fibroblasts.
REFERENCE   7  (residues 1 to 589)
  AUTHORS   Li N, Zhang W and Cao X.
  TITLE     Identification of human homologue of mouse IFN-gamma induced
            protein from human dendritic cells
  JOURNAL   Immunol Lett 74 (3), 221-224 (2000)
   PUBMED   11064105
REFERENCE   8  (residues 1 to 589)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   9  (residues 1 to 589)
  AUTHORS   Crow,Y.J.
  TITLE     Aicardi-Goutieres Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301648
REFERENCE   10 (residues 1 to 589)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK027811.1, BP252994.1,
            BE937520.1, AL079335.29 and R26128.1.
            On May 26, 2018 this sequence version replaced XP_011527063.1.
            
            Summary: This gene may play a role in regulation of the innate
            immune response. The encoded protein is upregulated in response to
            viral infection and may be involved in mediation of tumor necrosis
            factor-alpha proinflammatory responses. Mutations in this gene have
            been associated with Aicardi-Goutieres syndrome. [provided by
            RefSeq, Mar 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.2453216.1,
                                           SRR14038196.2509010.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..589
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     Protein         1..589
                     /product="deoxynucleoside triphosphate triphosphohydrolase
                     SAMHD1 isoform 3"
                     /EC_number="3.1.5.-"
                     /note="dendritic cell-derived IFNG-induced protein;
                     monocyte protein 5; SAM domain and HD domain-containing
                     protein 1; dNTPase; deoxynucleoside triphosphate
                     triphosphohydrolase SAMHD1; SAM domain and HD domain 1"
                     /calculated_mol_wt=67812
     Region          1..36
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y3Z3.2)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.8,
                     ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q9Y3Z3.2)"
     Site            18
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q60710; propagated from
                     UniProtKB/Swiss-Prot (Q9Y3Z3.2)"
     Site            21
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q60710; propagated from
                     UniProtKB/Swiss-Prot (Q9Y3Z3.2)"
     Site            25
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q60710; propagated from
                     UniProtKB/Swiss-Prot (Q9Y3Z3.2)"
     Site            33
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9Y3Z3.2)"
     Region          41..110
                     /region_name="SAM_HD"
                     /note="SAM domain of HD-phosphohydrolase; cd09508"
                     /db_xref="CDD:188907"
     Site            93
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y3Z3.2)"
     Region          115..504
                     /region_name="YdhJ"
                     /note="HD superfamily phosphohydrolase [General function
                     prediction only]; COG1078"
                     /db_xref="CDD:224004"
     CDS             1..589
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /coded_by="NM_001363733.2:66..1835"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS86954.1"
                     /db_xref="GeneID:25939"
                     /db_xref="HGNC:HGNC:15925"
                     /db_xref="MIM:606754"
ORIGIN      
        1 mqradseqps krprcddspr tpsntpsaea dwspglelhp dyktwgpeqv csflrrggfe
       61 epvllknire neitgallpc ldesrfenlg vsslgerkkl lsyiqrlvqi hvdtmkvind
      121 pihghielhp llvriidtpq fqrlryikql gggyyvfpga shnrfehslg vgylagclvh
      181 algekqpelq iserdvlcvq iaglchdlgh gpfshmfdgr fiplarpevk wtheqgsvmm
      241 fehlinsngi kpvmeqygli peedicfike qivgplespv edslwpykgr penksflyei
      301 vsnkrngidv dkwdyfardc hhlgiqnnfd ykrfikfarv cevdnelric ardkevgnly
      361 dmfhtrnslh rrayqhkvgn iidtmitdaf lkaddyieit gaggkkyris taiddmeayt
      421 kltdniflei lystdpklkd areilkqiey rnlfkyvget qptgqikikr edyeslpkev
      481 asakpkvlld vklkaedfiv dvinmdygmq eknpidhvsf ycktapnrai ritknqvsql
      541 lpekfaeqli rvyckkvdrk slyaarqyfv qwcadrnftk pqsptrash
//
LOCUS       NP_001332863             175 aa            linear   PRI 20-APR-2022
DEFINITION  epididymal-specific lipocalin-8 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001332863
VERSION     NP_001332863.1
DBSOURCE    REFSEQ: accession NM_001345934.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 175)
  AUTHORS   Suzuki K, Lareyre JJ, Sanchez D, Gutierrez G, Araki Y, Matusik RJ
            and Orgebin-Crist MC.
  TITLE     Molecular evolution of epididymal lipocalin genes localized on
            mouse chromosome 2
  JOURNAL   Gene 339, 49-59 (2004)
   PUBMED   15363845
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY301268.1, AK090647.1 and AL355987.31.
            
            Summary: Members of the lipocalin family, such as LCN8, have a
            common structure consisting of an 8-stranded antiparallel
            beta-barrel that forms a cup-shaped ligand-binding pocket or calyx.
            Lipocalins generally bind small hydrophobic ligands and transport
            them to specific cells (Suzuki et al., 2004 [PubMed
            15363845]).[supplied by OMIM, Aug 2009].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY301268.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2150385,
                                           SAMEA2159931 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..175
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     Protein         1..175
                     /product="epididymal-specific lipocalin-8 isoform 1
                     precursor"
                     /note="lipocalin 5; epididymal-specific lipocalin-8;
                     epididymis secretory sperm binding protein"
                     /calculated_mol_wt=16820
     sig_peptide     1..25
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6JVE9.1)"
                     /calculated_mol_wt=2278
     Region          23..172
                     /region_name="lipocalin_5_8-like"
                     /note="lipocalin similar to human epididymal-specific
                     lipocalin-8, mouse lipocalin-5 and -8, and similar
                     proteins; cd19421"
                     /db_xref="CDD:381196"
     Site            order(27,29,32,36,58,60,67,69,71,82,84,86,95,97,101,103,
                     105,114,116,118,129,131,133)
                     /site_type="other"
                     /note="ligand binding cavity [chemical binding]"
                     /db_xref="CDD:381196"
     Site            order(27,29,32,36,58,60,67,69,86,95,97,101,103,105,114,
                     116,118,131,133)
                     /site_type="other"
                     /note="retinoic acid binding site [chemical binding]"
                     /db_xref="CDD:381196"
     Site            66
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6JVE9.1)"
     Site            74
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6JVE9.1)"
     Site            order(137,139..143,145..146,149,155,158..159,161..162)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:381196"
     CDS             1..175
                     /gene="LCN8"
                     /gene_synonym="EP17; LCN5"
                     /coded_by="NM_001345934.2:1..528"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS87717.1"
                     /db_xref="GeneID:138307"
                     /db_xref="HGNC:HGNC:27038"
                     /db_xref="MIM:612902"
ORIGIN      
        1 mpgaaealpt vtvtlvagav ppasgaltah ciggfwrevg vasdqslvlt apkrveglfl
       61 tlsgsnltvk vaynssgsce iekivgseid stgkfafpgh reihvldtdy egyailrvsl
      121 mwrgrnfrvl kyftrsledk drlgfwkfre ltadtglyla arpgrcaell keeli
//
LOCUS       NP_004421                387 aa            linear   PRI 18-DEC-2022
DEFINITION  early growth response protein 3 isoform 1 [Homo sapiens].
ACCESSION   NP_004421 XP_944327
VERSION     NP_004421.2
DBSOURCE    REFSEQ: accession NM_004430.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 387)
  AUTHORS   Chen P, Jiang P, Chen J, Yang Y and Guo X.
  TITLE     XIST promotes apoptosis and the inflammatory response in
            CSE-stimulated cells via the miR-200c-3p/EGR3 axis
  JOURNAL   BMC Pulm Med 21 (1), 215 (2021)
   PUBMED   34243729
  REMARK    GeneRIF: XIST promotes apoptosis and the inflammatory response in
            CSE-stimulated cells via the miR-200c-3p/EGR3 axis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 387)
  AUTHORS   Nie F, Zhang Q, Ma J, Wang P, Gu R, Han J and Zhang R.
  TITLE     Schizophrenia risk candidate EGR3 is a novel transcriptional
            regulator of RELN and regulates neurite outgrowth via the Reelin
            signal pathway in vitro
  JOURNAL   J Neurochem 157 (6), 1745-1758 (2021)
   PUBMED   33113163
  REMARK    GeneRIF: Schizophrenia risk candidate EGR3 is a novel
            transcriptional regulator of RELN and regulates neurite outgrowth
            via the Reelin signal pathway in vitro.
REFERENCE   3  (residues 1 to 387)
  AUTHORS   Guo C, Gao YY, Ju QQ, Zhang CX, Gong M and Li ZL.
  TITLE     HELQ and EGR3 expression correlate with IGHV mutation status and
            prognosis in chronic lymphocytic leukemia
  JOURNAL   J Transl Med 19 (1), 42 (2021)
   PUBMED   33485349
  REMARK    GeneRIF: HELQ and EGR3 expression correlate with IGHV mutation
            status and prognosis in chronic lymphocytic leukemia.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 387)
  AUTHORS   Knudsen AM, Eilertsen I, Kielland S, Pedersen MW, Sorensen MD,
            Dahlrot RH, Boldt HB, Munthe S, Poulsen FR and Kristensen BW.
  TITLE     Expression and prognostic value of the transcription factors EGR1
            and EGR3 in gliomas
  JOURNAL   Sci Rep 10 (1), 9285 (2020)
   PUBMED   32518380
  REMARK    GeneRIF: Expression and prognostic value of the transcription
            factors EGR1 and EGR3 in gliomas.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 387)
  AUTHORS   Li X, Yuan M, Song L and Wang Y.
  TITLE     Silencing of microRNA-210 inhibits the progression of liver cancer
            and hepatitis B virus-associated liver cancer via targeting EGR3
  JOURNAL   BMC Med Genet 21 (1), 48 (2020)
   PUBMED   32138690
  REMARK    GeneRIF: Silencing of miRNA-210 inhibits the progression of liver
            cancer and Hepatitis B virus-associated liver cancer via
            up-regulating EGR3.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 387)
  AUTHORS   Yang Y, Dong B, Mittelstadt PR, Xiao H and Ashwell JD.
  TITLE     HIV Tat binds Egr proteins and enhances Egr-dependent
            transactivation of the Fas ligand promoter
  JOURNAL   J Biol Chem 277 (22), 19482-19487 (2002)
   PUBMED   11909874
  REMARK    GeneRIF: HIV Tat binds Egr proteins and enhances Egr-dependent
            transactivation of the Fas ligand promoter
REFERENCE   7  (residues 1 to 387)
  AUTHORS   Tourtellotte WG and Milbrandt J.
  TITLE     Sensory ataxia and muscle spindle agenesis in mice lacking the
            transcription factor Egr3
  JOURNAL   Nat Genet 20 (1), 87-91 (1998)
   PUBMED   9731539
REFERENCE   8  (residues 1 to 387)
  AUTHORS   Morris ME, Viswanathan N, Kuhlman S, Davis FC and Weitz CJ.
  TITLE     A screen for genes induced in the suprachiasmatic nucleus by light
  JOURNAL   Science 279 (5356), 1544-1547 (1998)
   PUBMED   9488654
REFERENCE   9  (residues 1 to 387)
  AUTHORS   Mages HW, Stamminger T, Rilke O, Bravo R and Kroczek RA.
  TITLE     Expression of PILOT, a putative transcription factor, requires two
            signals and is cyclosporin A sensitive in T cells
  JOURNAL   Int Immunol 5 (1), 63-70 (1993)
   PUBMED   8443122
REFERENCE   10 (residues 1 to 387)
  AUTHORS   Patwardhan S, Gashler A, Siegel MG, Chang LC, Joseph LJ, Shows TB,
            Le Beau MM and Sukhatme VP.
  TITLE     EGR3, a novel member of the Egr family of genes encoding
            immediate-early transcription factors
  JOURNAL   Oncogene 6 (6), 917-928 (1991)
   PUBMED   1906159
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC105046.10, S40832.1, X63741.1
            and N66802.1.
            On or before Mar 4, 2006 this sequence version replaced
            XP_944327.1, NP_004421.1.
            
            Summary: This gene encodes a transcriptional regulator that belongs
            to the EGR family of C2H2-type zinc-finger proteins. It is an
            immediate-early growth response gene which is induced by mitogenic
            stimulation. The protein encoded by this gene participates in the
            transcriptional regulation of genes in controling biological
            rhythm. It may also play a role in a wide variety of processes
            including muscle development, lymphocyte development, endothelial
            cell growth and migration, and neuronal development. Alternative
            splicing results in multiple transcript variants encoding distinct
            isoforms.[provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: S40832.1, X63741.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000317216.3/ ENSP00000318057.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..387
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     Protein         1..387
                     /product="early growth response protein 3 isoform 1"
                     /note="zinc finger protein pilot; early growth response
                     protein 3"
                     /calculated_mol_wt=42482
     Region          87..173
                     /region_name="DUF3446"
                     /note="Domain of unknown function (DUF3446); pfam11928"
                     /db_xref="CDD:432196"
     Region          241..283
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06889.1)"
     Region          275..299
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          277..299
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(284,286,288,290..291,294..295,298,312,314,318..319,
                     322..323,326,340,342,344,346..347,350..351,354)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          303..>359
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          307..327
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          319..344
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          335..355
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          348..387
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06889.1)"
     CDS             1..387
                     /gene="EGR3"
                     /gene_synonym="EGR-3; PILOT"
                     /coded_by="NM_004430.3:537..1700"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS6033.1"
                     /db_xref="GeneID:1960"
                     /db_xref="HGNC:HGNC:3240"
                     /db_xref="MIM:602419"
ORIGIN      
        1 mtgklaeklp vtmssllnql pdnlypeeip salnlfsgss dsvvhynqma tenvmdiglt
       61 nekpnpelsy sgsfqpapgn ktvtylgkfa fdspsnwcqd niislmsagi lgvppasgal
      121 stqtstasmv qppqgdveam ypalppysnc gdlysepvsf hdpqgnpgla yspqdyqsak
      181 paldsnlfpm ipdynlyhhp ndmgsipehk pfqgmdpirv npppitplet ikafkdkqih
      241 pgfgslpqpp ltlkpirprk ypnrpsktpl herphacpae gcdrrfsrsd eltrhlriht
      301 ghkpfqcric mrsfsrsdhl tthirthtge kpfacefcgr kfarsderkr hakihlkqke
      361 kkaekggaps assappvsla pvvttca
//
LOCUS       NP_803877                222 aa            linear   PRI 24-DEC-2022
DEFINITION  uridine diphosphate glucose pyrophosphatase NUDT14 isoform 1 [Homo
            sapiens].
ACCESSION   NP_803877
VERSION     NP_803877.2
DBSOURCE    REFSEQ: accession NM_177533.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 222)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 222)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 222)
  AUTHORS   Wang G, Ren G, Cui X, Lu Z, Ma Y, Qi Y, Huang Y, Liu Z, Sun Z and
            Ruan Q.
  TITLE     Human cytomegalovirus RL13 protein interacts with host NUDT14
            protein affecting viral DNA replication
  JOURNAL   Mol Med Rep 13 (3), 2167-2174 (2016)
   PUBMED   26781650
  REMARK    GeneRIF: the interaction between the RL13 protein and NUDT14
            protein may be involved in human cytomegalovirus DNA replication.
REFERENCE   4  (residues 1 to 222)
  AUTHORS   Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
            Safari A, Liu D and Songyang Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   5  (residues 1 to 222)
  AUTHORS   Yagi T, Baroja-Fernandez E, Yamamoto R, Munoz FJ, Akazawa T, Hong
            KS and Pozueta-Romero J.
  TITLE     Cloning, expression and characterization of a mammalian Nudix
            hydrolase-like enzyme that cleaves the pyrophosphate bond of
            UDP-glucose
  JOURNAL   Biochem J 370 (Pt 2), 409-415 (2003)
   PUBMED   12429023
REFERENCE   6  (residues 1 to 222)
  AUTHORS   Yuryev A and Wennogle LP.
  TITLE     Novel raf kinase protein-protein interactions found by an
            exhaustive yeast two-hybrid analysis
  JOURNAL   Genomics 81 (2), 112-125 (2003)
   PUBMED   12620389
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB096906.1 and BC041584.1.
            On Oct 9, 2003 this sequence version replaced NP_803877.1.
            
            Summary: The protein encoded by this gene is a member of the Nudix
            hydrolase family. Nudix hydrolases eliminate potentially toxic
            nucleotide metabolites from the cell and regulate the
            concentrations and availability of many different nucleotide
            substrates, cofactors, and signaling molecules. This enzyme
            contains a Nudix hydrolase domain and is a UDPG pyrophosphatase
            that hydrolyzes UDPG to produce glucose 1-phosphate and UMP.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jan
            2016].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC041584.1, SRR1803613.388340.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392568.7/ ENSP00000376349.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..222
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.33"
     Protein         1..222
                     /product="uridine diphosphate glucose pyrophosphatase
                     NUDT14 isoform 1"
                     /EC_number="3.6.1.45"
                     /note="UDP-sugar diphosphatase; UDPG pyrophosphatase;
                     nudix (nucleoside diphosphate linked moiety X)-type motif
                     14; uridine diphosphate glucose pyrophosphatase NUDT14"
                     /calculated_mol_wt=23987
     Region          23..212
                     /region_name="TIGR00052"
                     /note="nudix-type nucleoside diphosphatase, YffH/AdpP
                     family"
                     /db_xref="CDD:129162"
     Region          111..129
                     /region_name="Nudix box"
                     /note="propagated from UniProtKB/Swiss-Prot (O95848.2)"
     CDS             1..222
                     /gene="NUDT14"
                     /gene_synonym="UGPP; UGPPase"
                     /coded_by="NM_177533.5:104..772"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS10000.1"
                     /db_xref="GeneID:256281"
                     /db_xref="HGNC:HGNC:20141"
                     /db_xref="MIM:609219"
ORIGIN      
        1 meriegasvg rcaaspylrp ltlhyrqnga qkswdfmkth dsvtvllfns srrslvlvkq
       61 frpavyagev errfpgslaa vdqdgprelq palpgsagvt velcaglvdq pglsleevac
      121 keaweecgyh lapsdlrrva tywsgvgltg srqtmfytev tdaqrsgpgg glveegelie
      181 vvhlplegaq afaddpdipk tlgvifgvsw flsqvapnld lq
//
LOCUS       NP_001093205             419 aa            linear   PRI 25-DEC-2022
DEFINITION  creatine kinase S-type, mitochondrial precursor [Homo sapiens].
ACCESSION   NP_001093205
VERSION     NP_001093205.1
DBSOURCE    REFSEQ: accession NM_001099735.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 419)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 419)
  AUTHORS   Zervou S, Whittington HJ, Ostrowski PJ, Cao F, Tyler J, Lake HA,
            Neubauer S and Lygate CA.
  TITLE     Increasing creatine kinase activity protects against hypoxia /
            reoxygenation injury but not against anthracycline toxicity in
            vitro
  JOURNAL   PLoS One 12 (8), e0182994 (2017)
   PUBMED   28806770
  REMARK    GeneRIF: These findings support increased CK activity as protection
            against ischaemia-reperfusion injury, in particular, protection via
            CKMT2 in a cardiac-relevant cell line, which merits further
            investigation in vivo.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 419)
  AUTHORS   Zhao X, Leon IR, Bak S, Mogensen M, Wrzesinski K, Hojlund K and
            Jensen ON.
  TITLE     Phosphoproteome analysis of functional mitochondria isolated from
            resting human muscle reveals extensive phosphorylation of inner
            membrane protein complexes and enzymes
  JOURNAL   Mol Cell Proteomics 10 (1), M110.000299 (2011)
   PUBMED   20833797
REFERENCE   4  (residues 1 to 419)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 419)
  AUTHORS   Kim JS, Eom JI, Cheong JW, Choi AJ, Lee JK, Yang WI and Min YH.
  TITLE     Protein kinase CK2alpha as an unfavorable prognostic marker and
            novel therapeutic target in acute myeloid leukemia
  JOURNAL   Clin Cancer Res 13 (3), 1019-1028 (2007)
   PUBMED   17289898
  REMARK    GeneRIF: CK2alpha has a role in progression of acute myeloid
            leukemia
REFERENCE   6  (residues 1 to 419)
  AUTHORS   Payne RM and Strauss AW.
  TITLE     Expression of the mitochondrial creatine kinase genes
  JOURNAL   Mol Cell Biochem 133-134, 235-243 (1994)
   PUBMED   7808456
  REMARK    Review article
REFERENCE   7  (residues 1 to 419)
  AUTHORS   Richard I, Devaud C, Cherif D, Cohen D and Beckmann JS.
  TITLE     The gene for creatine kinase, mitochondrial 2 (sarcomeric; CKMT2),
            maps to chromosome 5q13.3
  JOURNAL   Genomics 18 (1), 134-136 (1993)
   PUBMED   8276398
REFERENCE   8  (residues 1 to 419)
  AUTHORS   Klein SC, Haas RC, Perryman MB, Billadello JJ and Strauss AW.
  TITLE     Regulatory element analysis and structural characterization of the
            human sarcomeric mitochondrial creatine kinase gene
  JOURNAL   J Biol Chem 266 (27), 18058-18065 (1991)
   PUBMED   1917943
REFERENCE   9  (residues 1 to 419)
  AUTHORS   Haas RC and Strauss AW.
  TITLE     Separate nuclear genes encode sarcomere-specific and ubiquitous
            human mitochondrial creatine kinase isoenzymes
  JOURNAL   J Biol Chem 265 (12), 6921-6927 (1990)
   PUBMED   2324105
REFERENCE   10 (residues 1 to 419)
  AUTHORS   Haas RC, Korenfeld C, Zhang ZF, Perryman B, Roman D and Strauss AW.
  TITLE     Isolation and characterization of the gene and cDNA encoding human
            mitochondrial creatine kinase
  JOURNAL   J Biol Chem 264 (5), 2890-2897 (1989)
   PUBMED   2914937
  REMARK    Erratum:[J Biol Chem 1989 Sep 25;264(27):16332]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB479765.1, BC029140.1 and
            AW300490.1.
            
            Summary: Mitochondrial creatine kinase (MtCK) is responsible for
            the transfer of high energy phosphate from mitochondria to the
            cytosolic carrier, creatine. It belongs to the creatine kinase
            isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and
            ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine
            kinase occurs in two different oligomeric forms: dimers and
            octamers, in contrast to the exclusively dimeric cytosolic creatine
            kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80%
            homology with the coding exons of ubiquitous mitochondrial creatine
            kinase. This gene contains sequences homologous to several motifs
            that are shared among some nuclear genes encoding mitochondrial
            proteins and thus may be essential for the coordinated activation
            of these genes during mitochondrial biogenesis. Three transcript
            variants encoding the same protein have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. All three variants encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.63632.1,
                                           SRR5189655.117948.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000254035.9/
                                                  ENSP00000254035.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..419
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     Protein         1..419
                     /product="creatine kinase S-type, mitochondrial precursor"
                     /EC_number="2.7.3.2"
                     /note="basic-type mitochondrial creatine kinase; creatine
                     kinase S-type, mitochondrial; S-MtCK; mib-CK; sarcomeric
                     mitochondrial creatine kinase; creatine kinase,
                     mitochondrial 2 (sarcomeric)"
                     /calculated_mol_wt=43344
     transit_peptide 1..39
                     /calculated_mol_wt=4179
     mat_peptide     40..419
                     /product="creatine kinase S-type, mitochondrial"
                     /calculated_mol_wt=43344
     Region          40..64
                     /region_name="Cardiolipin-binding. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P17540.2)"
     Region          50..407
                     /region_name="creatine_kinase_like"
                     /note="Phosphagen (guanidino) kinases such as creatine
                     kinase and similar enzymes; cd00716"
                     /db_xref="CDD:153076"
     Site            order(106,235,266,317,319)
                     /site_type="other"
                     /note="creatine binding site [chemical binding]"
                     /db_xref="CDD:153076"
     Site            order(162,164,166,225,262,270,326,328..330,354,356,
                     358..359,369)
                     /site_type="other"
                     /note="ADP binding site [chemical binding]"
                     /db_xref="CDD:153076"
     Site            255
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P09605; propagated from
                     UniProtKB/Swiss-Prot (P17540.2)"
     Site            order(351..360,363..372)
                     /site_type="active"
                     /note="substrate specificity loop [active]"
                     /db_xref="CDD:153076"
     Site            356
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q6P8J7; propagated from
                     UniProtKB/Swiss-Prot (P17540.2)"
     CDS             1..419
                     /gene="CKMT2"
                     /gene_synonym="SMTCK"
                     /coded_by="NM_001099735.2:77..1336"
                     /db_xref="CCDS:CCDS4053.1"
                     /db_xref="GeneID:1160"
                     /db_xref="HGNC:HGNC:1996"
                     /db_xref="MIM:123295"
ORIGIN      
        1 masifskllt grnasllfat mgtsvlttgy llnrqkvcae vreqprlfpp sadypdlrkh
       61 nncmaecltp aiyaklrnkv tpngytldqc iqtgvdnpgh pfiktvgmva gdeesyevfa
      121 dlfdpviklr hngydprvmk httdldaski tqgqfdehyv lssrvrtgrs irglslppac
      181 traerreven vaitaleglk gdlagryykl semteqdqqr liddhflfdk pvsplltcag
      241 mardwpdarg iwhnydktfl iwineedhtr vismekggnm krvferfcrg lkeverliqe
      301 rgwefmwner lgyiltcpsn lgtglragvh vripklskdp rfskilenlr lqkrgtggvd
      361 taavadvydi snidrigrse velvqividg vnylvdcekk lergqdikvp pplpqfgkk
//
LOCUS       NP_001306223             813 aa            linear   PRI 26-DEC-2022
DEFINITION  BTB/POZ domain-containing protein KCTD3 isoform 2 [Homo sapiens].
ACCESSION   NP_001306223 XP_005273213
VERSION     NP_001306223.1
DBSOURCE    REFSEQ: accession NM_001319294.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 813)
  AUTHORS   Faqeih EA, Almannai M, Saleh MM, AlWadei AH, Samman MM and Alkuraya
            FS.
  TITLE     Phenotypic characterization of KCTD3-related developmental
            epileptic encephalopathy
  JOURNAL   Clin Genet 93 (5), 1081-1086 (2018)
   PUBMED   29406573
  REMARK    GeneRIF: this largest series to date on KCTD3-mutated patients, we
            show that biallelic loss of function mutations in KCTD3 lead to a
            consistent phenotype of developmental epileptic encephalopathy and
            abnormal cerebellum on brain imaging.
REFERENCE   2  (residues 1 to 813)
  AUTHORS   Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS,
            Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih
            E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala
            S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ,
            Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z,
            Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al
            Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R,
            Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B,
            Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA,
            Monies DM and Alkuraya FS.
  TITLE     Accelerating novel candidate gene discovery in neurogenetic
            disorders via whole-exome sequencing of prescreened multiplex
            consanguineous families
  JOURNAL   Cell Rep 10 (2), 148-161 (2015)
   PUBMED   25558065
REFERENCE   3  (residues 1 to 813)
  AUTHORS   Cao-Ehlker X, Zong X, Hammelmann V, Gruner C, Fenske S, Michalakis
            S, Wahl-Schott C and Biel M.
  TITLE     Up-regulation of hyperpolarization-activated cyclic
            nucleotide-gated channel 3 (HCN3) by specific interaction with K+
            channel tetramerization domain-containing protein 3 (KCTD3)
  JOURNAL   J Biol Chem 288 (11), 7580-7589 (2013)
   PUBMED   23382386
  REMARK    GeneRIF: KCTD3 is an accessory subunit of native HCN3 complexes
REFERENCE   4  (residues 1 to 813)
  AUTHORS   Poot M, Beyer V, Schwaab I, Damatova N, Van't Slot R, Prothero J,
            Holder SE and Haaf T.
  TITLE     Disruption of CNTNAP2 and additional structural genome changes in a
            boy with speech delay and autism spectrum disorder
  JOURNAL   Neurogenetics 11 (1), 81-89 (2010)
   PUBMED   19582487
REFERENCE   5  (residues 1 to 813)
  AUTHORS   Lehner B and Sanderson CM.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   6  (residues 1 to 813)
  AUTHORS   Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH,
            Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT and Old
            LJ.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL365315.8, HY029594.1,
            BC143963.1, BC094879.1 and CK902987.1.
            On Feb 3, 2016 this sequence version replaced XP_005273213.1.
            
            Summary: This gene encodes a member of the potassium channel
            tetramerization-domain containing (KCTD) protein family. Members of
            this protein family regulate the biophysical characteristics of ion
            channels. In mouse, this protein interacts with
            hyperpolarization-activated cyclic nucleotide-gated channel complex
            3 and enhances its cell surface expression and current density.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1. It
            encodes isoform 2, which is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC094879.1, SRR1660809.130598.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..813
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q41"
     Protein         1..813
                     /product="BTB/POZ domain-containing protein KCTD3 isoform
                     2"
                     /note="NY-REN-45 antigen; BTB/POZ domain-containing
                     protein KCTD3; renal carcinoma antigen NY-REN-45;
                     potassium channel tetramerisation domain containing 3"
                     /calculated_mol_wt=88639
     Region          17..119
                     /region_name="BTB_POZ_SHKBP1"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in SH3KBP1-binding
                     protein 1 (SHKBP1); cd18393"
                     /db_xref="CDD:349701"
     Region          139..170
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          174..218
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          224..263
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          270..305
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          310..342
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          354..404
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          412..449
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          457..504
                     /region_name="WD 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          510..569
                     /region_name="WD 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Site            602
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y597.2)"
     Site            662
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y597.2)"
     Site            709
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          734..813
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Site            791
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y597.2)"
     CDS             1..813
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /coded_by="NM_001319294.2:383..2824"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:51133"
                     /db_xref="HGNC:HGNC:21305"
                     /db_xref="MIM:613272"
ORIGIN      
        1 magghcgsfp aaaagsgeiv qlnvggtrfs tsrqtlmwip dsffssllsg ristlrdetg
       61 aifidrdpaa fapilnflrt keldlrgvsi nvlrheaefy gitplvrrll lceelerssc
      121 gsvlfhgylp ppgipsrkin ntvrsadsrn glnstegear gngtqpvlsg tgeetvrlgf
      181 pvdprkvliv aghhnwivaa yahfavcyri kessgwqqvf tspyldwtie rvalnakvvg
      241 gphgdkdkmv avasessiil wsvqdggsgs eigvfslgvp vdalffignq lvatshtgkv
      301 gvwnavtqhw qvqdvvpits ydtagsflll gcnngsiyyi dmqkfplrmk dndllvtely
      361 hdpsndaita lsvyltpkts vsgnwieiay gtssgavrvi vqhpetvgsg pqlfqtftvh
      421 rspvtkimls ekhlvsvcad nnhvrtwtvt rfrgmistqp gstplasfki lsleeteshg
      481 syssgndigp fgerddqqvf iqkvvpitnk lfvrlsstgk riceiqavdc ttissftvre
      541 cegssrmgsr prrylftght ngsiqmwdlt tamdmvnkse dkggpteeel lklldqcdls
      601 tsrcatpnis patsvvqhsh lresnsslql qhhdttheaa tygsmrpyre spllararrt
      661 esfhsyrdfq tinlnrnver avpengnlgp iqaevkgatg ecniserksp gveikslrel
      721 dsglevhkia egfseskkrs sedenenkie frkkggfegg gflgrkkvpy lasspstsdg
      781 gtdspgtasp sptkttpspr hkksdssgqe ysl
//
LOCUS       NP_001381684             615 aa            linear   PRI 31-DEC-2022
DEFINITION  TANK-binding kinase 1-binding protein 1 [Homo sapiens].
ACCESSION   NP_001381684 XP_005257916
VERSION     NP_001381684.1
DBSOURCE    REFSEQ: accession NM_001394755.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 615)
  AUTHORS   Sorosina M, Barizzone N, Clarelli F, Anand S, Lupoli S, Salvi E,
            Mangano E, Bordoni R, Roostaei T, Mascia E, Zuccala M, Vecchio D,
            Cavalla P, Santoro S, Ferre L, Zollo A, Barlassina C, Cusi D,
            Martinelli V, Comi G, Leone M, Filippi M, Patsopoulos NA, De Jager
            PL, De Bellis G, Esposito F, D'Alfonso S and Martinelli Boneschi F.
  CONSRTM   PROGEMUS
  TITLE     A multi-step genomic approach prioritized TBKBP1 gene as relevant
            for multiple sclerosis susceptibility
  JOURNAL   J Neurol 269 (8), 4510-4522 (2022)
   PUBMED   35545683
  REMARK    GeneRIF: A multi-step genomic approach prioritized TBKBP1 gene as
            relevant for multiple sclerosis susceptibility.
            Erratum:[J Neurol. 2022 Jun 25;:. PMID: 35751689]
REFERENCE   2  (residues 1 to 615)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   3  (residues 1 to 615)
  AUTHORS   Zheng X, Li Q, Li X, Zhang Y, Wu X, Wei Q, Cao S, Yang M, Lin Z,
            Liao Z, Qi J, Lv Q, Wang L, Li Y, Irwanto A, Cheng CY, Chai X, Khor
            CC, Heng CK, Koh WP, Yuan JM, Bei J, Zhang F, Zhang X, Zeng Y, Shen
            Y, Liu J and Gu J.
  TITLE     Analysis of 47 Non-MHC Ankylosing Spondylitis Susceptibility Loci
            Regarding Associated Variants across Whites and Han Chinese
  JOURNAL   J Rheumatol 47 (5), 674-681 (2020)
   PUBMED   31523044
  REMARK    GeneRIF: Analysis of 47 Non-MHC Ankylosing Spondylitis
            Susceptibility Loci Regarding Associated Variants across Whites and
            Han Chinese.
REFERENCE   4  (residues 1 to 615)
  AUTHORS   Zhu L, Li Y, Xie X, Zhou X, Gu M, Jie Z, Ko CJ, Gao T, Hernandez
            BE, Cheng X and Sun SC.
  TITLE     TBKBP1 and TBK1 form a growth factor signalling axis mediating
            immunosuppression and tumourigenesis
  JOURNAL   Nat Cell Biol 21 (12), 1604-1614 (2019)
   PUBMED   31792381
  REMARK    GeneRIF: The TBK1-TBKBP1 axis facilitates tumour-mediated
            immunosuppression.
REFERENCE   5  (residues 1 to 615)
  AUTHORS   Li S, Wang L, Berman M, Kong YY and Dorf ME.
  TITLE     Mapping a dynamic innate immunity protein interaction network
            regulating type I interferon production
  JOURNAL   Immunity 35 (3), 426-440 (2011)
   PUBMED   21903422
  REMARK    Erratum:[Immunity. 2011 Oct 28;35(4):647-8]
REFERENCE   6  (residues 1 to 615)
  AUTHORS   Evans DM, Spencer CC, Pointon JJ, Su Z, Harvey D, Kochan G,
            Oppermann U, Dilthey A, Pirinen M, Stone MA, Appleton L, Moutsianas
            L, Leslie S, Wordsworth T, Kenna TJ, Karaderi T, Thomas GP, Ward
            MM, Weisman MH, Farrar C, Bradbury LA, Danoy P, Inman RD,
            Maksymowych W, Gladman D, Rahman P, Morgan A, Marzo-Ortega H,
            Bowness P, Gaffney K, Gaston JS, Smith M, Bruges-Armas J, Couto AR,
            Sorrentino R, Paladini F, Ferreira MA, Xu H, Liu Y, Jiang L,
            Lopez-Larrea C, Diaz-Pena R, Lopez-Vazquez A, Zayats T, Band G,
            Bellenguez C, Blackburn H, Blackwell JM, Bramon E, Bumpstead SJ,
            Casas JP, Corvin A, Craddock N, Deloukas P, Dronov S, Duncanson A,
            Edkins S, Freeman C, Gillman M, Gray E, Gwilliam R, Hammond N, Hunt
            SE, Jankowski J, Jayakumar A, Langford C, Liddle J, Markus HS,
            Mathew CG, McCann OT, McCarthy MI, Palmer CN, Peltonen L, Plomin R,
            Potter SC, Rautanen A, Ravindrarajah R, Ricketts M, Samani N,
            Sawcer SJ, Strange A, Trembath RC, Viswanathan AC, Waller M, Weston
            P, Whittaker P, Widaa S, Wood NW, McVean G, Reveille JD, Wordsworth
            BP, Brown MA and Donnelly P.
  CONSRTM   Spondyloarthritis Research Consortium of Canada (SPARCC);
            Australo-Anglo-American Spondyloarthritis Consortium (TASC);
            Wellcome Trust Case Control Consortium 2 (WTCCC2)
  TITLE     Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis
            implicates peptide handling in the mechanism for HLA-B27 in disease
            susceptibility
  JOURNAL   Nat Genet 43 (8), 761-767 (2011)
   PUBMED   21743469
  REMARK    Erratum:[Nat Genet. 2011 Sep;43(9):919. Opperman, Udo [corrected to
            Oppermann, Udo]; Moutsianis, Loukas [corrected to Moutsianas,
            Loukas]]
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 615)
  AUTHORS   Liebau S, Proepper C, Schmidt T, Schoen M, Bockmann J and Boeckers
            TM.
  TITLE     ProSAPiP2, a novel postsynaptic density protein that interacts with
            ProSAP2/Shank3
  JOURNAL   Biochem Biophys Res Commun 385 (3), 460-465 (2009)
   PUBMED   19481056
REFERENCE   8  (residues 1 to 615)
  AUTHORS   Ryzhakov G and Randow F.
  TITLE     SINTBAD, a novel component of innate antiviral immunity, shares a
            TBK1-binding domain with NAP1 and TANK
  JOURNAL   EMBO J 26 (13), 3180-3190 (2007)
   PUBMED   17568778
  REMARK    GeneRIF: results suggest that efficient signal transduction upon
            viral infection requires SINTBAD, TANK and NAP1 because they link
            TBK1 and IKKi to virus-activated signalling cascades
REFERENCE   9  (residues 1 to 615)
  AUTHORS   Kim JM, Lee KH, Jeon YJ, Oh JH, Jeong SY, Song IS, Kim JM, Lee DS
            and Kim NS.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
REFERENCE   10 (residues 1 to 615)
  AUTHORS   Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G,
            Croughton K, Cruciat C, Eberhard D, Gagneur J, Ghidelli S, Hopf C,
            Huhse B, Mangano R, Michon AM, Schirle M, Schlegl J, Schwab M,
            Stein MA, Bauer A, Casari G, Drewes G, Gavin AC, Jackson DB,
            Joberty G, Neubauer G, Rick J, Kuster B and Superti-Furga G.
  TITLE     A physical and functional map of the human TNF-alpha/NF-kappa B
            signal transduction pathway
  JOURNAL   Nat Cell Biol 6 (2), 97-105 (2004)
   PUBMED   14743216
  REMARK    Erratum:[Nat Cell Biol. 2004 May;6(5):465]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC015674.12.
            On May 4, 2021 this sequence version replaced XP_005257916.1.
            
            Summary: TBKBP1 is an adaptor protein that binds to TBK1 (MIM
            604834) and is part of the interaction network in the TNF (MIM
            191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004
            [PubMed 14743216]).[supplied by OMIM, Mar 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2449741.1,
                                           SRR14038192.1576727.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000578982.6/ ENSP00000462339.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..615
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     Protein         1..615
                     /product="TANK-binding kinase 1-binding protein 1"
                     /calculated_mol_wt=67571
     Region          1..279
                     /region_name="Homodimerization. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (A7MCY6.1)"
     Region          <47..332
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Site            184
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (A7MCY6.1)"
     Region          280..329
                     /region_name="Interaction with TBK1 and IKBKE.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (A7MCY6.1)"
     Region          288..341
                     /region_name="TBD"
                     /note="TBD domain; pfam12845"
                     /db_xref="CDD:432828"
     Region          326..458
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A7MCY6.1)"
     Site            365
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (A7MCY6.1)"
     Site            372
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (A7MCY6.1)"
     Site            379
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (A7MCY6.1)"
     Site            385
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (A7MCY6.1)"
     Site            400
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (A7MCY6.1)"
     Site            415
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (A7MCY6.1)"
     Site            504
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (A7MCY6.1)"
     Site            534
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (A7MCY6.1)"
     CDS             1..615
                     /gene="TBKBP1"
                     /gene_synonym="ProSAPiP2; SINTBAD"
                     /coded_by="NM_001394755.1:69..1916"
                     /db_xref="CCDS:CCDS45722.1"
                     /db_xref="GeneID:9755"
                     /db_xref="HGNC:HGNC:30140"
                     /db_xref="MIM:608476"
ORIGIN      
        1 mesmfeddis iltqealgps evwldspgdp slggdmcsas hfalitaygd ikerlggler
       61 enatlrrrlk vyeikyplis dfgeehgfsl yeikdgslle vekvslqqrl nqfqhelqkn
      121 keqeeqlgem iqayeklcve ksdletelre mralvethlr qicgleqqlr qqqglqdaaf
      181 snlspppapa ppctdldlhy lalrggsgls hagwpgstps vsdlerrrle ealeaaqgea
      241 rgaqlreeql qaecerlqge lkqlqetraq dlasnqserd mawvkrvgdd qvnlalayte
      301 lteelgrlre lsslqgrilr tllqeqarsg gqrhsplsqr hspapqcpsp spparaappc
      361 ppcqspvpqr rspvppcpsp qqrrspasps cpspvpqrrs pvppscqsps pqrrspvpps
      421 cpapqprppp ppppgertla erayakppsh hvkagfqgrr syselaegaa yagasppwlq
      481 aeaatlpkpr aygselygpg rplsprrafe girlrfekqp seedewavpt sppspevgti
      541 rcasfcagfp ipespaatay ahaehaqswp sinllmetvg sdirscplcq lgfpvgypdd
      601 alikhidshl enski
//
LOCUS       NP_001257700            1200 aa            linear   PRI 31-DEC-2022
DEFINITION  sorbin and SH3 domain-containing protein 2 isoform 9 [Homo
            sapiens].
ACCESSION   NP_001257700
VERSION     NP_001257700.1
DBSOURCE    REFSEQ: accession NM_001270771.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1200)
  AUTHORS   Chen Q, Xu J and Zhu M.
  TITLE     miR-18a-5p Facilitates Malignant Progression of Head and Neck
            Squamous Cell Carcinoma Cells via Modulating SORBS2
  JOURNAL   Comput Math Methods Med 2021, 5953881 (2021)
   PUBMED   34707683
  REMARK    GeneRIF: miR-18a-5p Facilitates Malignant Progression of Head and
            Neck Squamous Cell Carcinoma Cells via Modulating SORBS2.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1200)
  AUTHORS   Liang F, Wang B, Geng J, You G, Fa J, Zhang M, Sun H, Chen H, Fu Q,
            Zhang X and Zhang Z.
  TITLE     SORBS2 is a genetic factor contributing to cardiac malformation of
            4q deletion syndrome patients
  JOURNAL   Elife 10, e67481 (2021)
   PUBMED   34099102
  REMARK    GeneRIF: SORBS2 is a genetic factor contributing to cardiac
            malformation of 4q deletion syndrome patients.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1200)
  AUTHORS   An J, Wang H, Ma X, Hu B, Yan Y, Yan Y and Su Z.
  TITLE     Musk ketone induces apoptosis of gastric cancer cells via
            downregulation of sorbin and SH3 domain containing 2
  JOURNAL   Mol Med Rep 23 (6) (2021)
   PUBMED   33880576
  REMARK    GeneRIF: Musk ketone induces apoptosis of gastric cancer cells via
            downregulation of sorbin and SH3 domain containing 2.
REFERENCE   4  (residues 1 to 1200)
  AUTHORS   Lv Q, Dong F, Zhou Y, Cai Z and Wang G.
  TITLE     RNA-binding protein SORBS2 suppresses clear cell renal cell
            carcinoma metastasis by enhancing MTUS1 mRNA stability
  JOURNAL   Cell Death Dis 11 (12), 1056 (2020)
   PUBMED   33311452
  REMARK    GeneRIF: RNA-binding protein SORBS2 suppresses clear cell renal
            cell carcinoma metastasis by enhancing MTUS1 mRNA stability.
            Erratum:[Cell Death Dis. 2021 Nov 8;12(11):1062. PMID: 34750363]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1200)
  AUTHORS   Nakayama M, Kikuno R and Ohara O.
  TITLE     Protein-protein interactions between large proteins: two-hybrid
            screening using a functionally classified library composed of long
            cDNAs
  JOURNAL   Genome Res 12 (11), 1773-1784 (2002)
   PUBMED   12421765
REFERENCE   6  (residues 1 to 1200)
  AUTHORS   Xu YC, Wu RF, Gu Y, Yang YS, Yang MC, Nwariaku FE and Terada LS.
  TITLE     Involvement of TRAF4 in oxidative activation of c-Jun N-terminal
            kinase
  JOURNAL   J Biol Chem 277 (31), 28051-28057 (2002)
   PUBMED   12023963
REFERENCE   7  (residues 1 to 1200)
  AUTHORS   Kimura A, Baumann CA, Chiang SH and Saltiel AR.
  TITLE     The sorbin homology domain: a motif for the targeting of proteins
            to lipid rafts
  JOURNAL   Proc Natl Acad Sci U S A 98 (16), 9098-9103 (2001)
   PUBMED   11481476
REFERENCE   8  (residues 1 to 1200)
  AUTHORS   Zucconi A, Dente L, Santonico E, Castagnoli L and Cesareni G.
  TITLE     Selection of ligands by panning of domain libraries displayed on
            phage lambda reveals new potential partners of synaptojanin 1
  JOURNAL   J Mol Biol 307 (5), 1329-1339 (2001)
   PUBMED   11292345
REFERENCE   9  (residues 1 to 1200)
  AUTHORS   Kawabe H, Hata Y, Takeuchi M, Ide N, Mizoguchi A and Takai Y.
  TITLE     nArgBP2, a novel neural member of ponsin/ArgBP2/vinexin family that
            interacts with synapse-associated protein 90/postsynaptic
            density-95-associated protein (SAPAP)
  JOURNAL   J Biol Chem 274 (43), 30914-30918 (1999)
   PUBMED   10521485
REFERENCE   10 (residues 1 to 1200)
  AUTHORS   Wang B, Golemis EA and Kruh GD.
  TITLE     ArgBP2, a multiple Src homology 3 domain-containing,
            Arg/Abl-interacting protein, is phosphorylated in v-Abl-transformed
            cells and localized in stress fibers and cardiocyte Z-disks
  JOURNAL   J Biol Chem 272 (28), 17542-17550 (1997)
   PUBMED   9211900
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC096659.1, AC104805.3,
            AC108472.5 and AC093797.3.
            
            Summary: Arg and c-Abl represent the mammalian members of the
            Abelson family of non-receptor protein-tyrosine kinases. They
            interact with the Arg/Abl binding proteins via the SH3 domains
            present in the carboxy end of the latter group of proteins. This
            gene encodes the sorbin and SH3 domain containing 2 protein. It has
            three C-terminal SH3 domains and an N-terminal sorbin homology
            (SoHo) domain that interacts with lipid raft proteins. The
            subcellular localization of this protein in epithelial and cardiac
            muscle cells suggests that it functions as an adapter protein to
            assemble signaling complexes in stress fibers, and that it is a
            potential link between Abl family kinases and the actin
            cytoskeleton. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (9) originates from an alternate
            promoter, has a different 5' UTR, and several in-frame differences
            in the coding region compared to variant 1, which results in a
            longer isoform (7) compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056628.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1200
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1"
     Protein         1..1200
                     /product="sorbin and SH3 domain-containing protein 2
                     isoform 9"
                     /note="Arg binding protein 2; Arg/Abl-interacting protein
                     2; arg-binding protein 2"
                     /calculated_mol_wt=134463
     Region          170..214
                     /region_name="Sorb"
                     /note="Sorbin homologous domain; pfam02208"
                     /db_xref="CDD:426659"
     Region          966..1020
                     /region_name="SH3_Sorbs2_1"
                     /note="First Src Homology 3 domain of Sorbin and SH3
                     domain containing 2 (Sorbs2), also called Arg-binding
                     protein 2 (ArgBP2); cd11920"
                     /db_xref="CDD:212853"
     Site            order(972,974,977,981,999..1000,1013,1015..1016)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212853"
     Region          1041..1097
                     /region_name="SH3_Sorbs2_2"
                     /note="Second Src Homology 3 domain of Sorbin and SH3
                     domain containing 2 (Sorbs2), also called Arg-binding
                     protein 2 (ArgBP2); cd11923"
                     /db_xref="CDD:212856"
     Site            order(1047,1049,1052,1056,1074..1075,1090,1092..1093)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212856"
     Region          1140..1200
                     /region_name="SH3_Sorbs2_3"
                     /note="Third (or C-terminal) Src Homology 3 domain of
                     Sorbin and SH3 domain containing 2 (Sorbs2), also called
                     Arg-binding protein 2 (ArgBP2); cd11917"
                     /db_xref="CDD:212850"
     Site            order(1150,1152,1155,1159,1177..1178,1193,1195..1196)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212850"
     CDS             1..1200
                     /gene="SORBS2"
                     /gene_synonym="ARGBP2; PRO0618"
                     /coded_by="NM_001270771.3:435..4037"
                     /note="isoform 9 is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS59482.1"
                     /db_xref="GeneID:8470"
                     /db_xref="HGNC:HGNC:24098"
                     /db_xref="MIM:616349"
ORIGIN      
        1 mntdsggcar kraamsvtlt svkrvqsspn llaagrdsqs pdsawrsynd gnqetlngda
       61 tysslaakgf rsvrpnlqdk rsptqsqitv ngnsggavsp msyyqrpfsp sayslpasln
      121 ssivmqhgts ldstdtypqh aqsldgttss siplyrssee ekrvtvikap hypgigpvde
      181 sgiptairtt vdrpkdwykt mfkqihmvhk pdddtdmynt pytynaglyn ppysaqshpa
      241 aktqtyrpls kshsdnspna fkdasspvpp phvpppvppl rprdrsstek hdwdppdrkv
      301 dtrkfrsepr sifeyepgks silqherpas lyqssidrsl erpmssasma sdfrkrrkse
      361 pavgpprglg dqsasrtspg rvdlpgsstt ltksftsssp sspsrakggd dskicpslcs
      421 ysglngnpss eldycstyrq hldvprdspr aisfkngwqm arqnaeiwss teetvspkik
      481 srscddllnd dcdsfpdpkv ksesmgsllc eedskescpm awgspyvpev rsngrsrirh
      541 rsarnapgfl kmykkmhrin rkdlmnsevi csvksrilqy eseqqhkdll rawsqcstee
      601 vprdmvptri sefekliqks ksmpnlgddm lspvtleppq nglcpkrrfs ieylleeenq
      661 sgppargrrg cqsnalvpih ievtsdeqpr ahvefsdsdq dgvvsdhsdy ihlegssfcs
      721 esdfdhfsft ssesfygssh hhhhhhhhhh rhlissckgr cpasytrftt mlkherarhe
      781 nteeprrqem dpglsklafl vspvpfrrkk nsapkkqtek akckasvfea ldsalkdicd
      841 qikaekkrgs lpdnsilhrl isellpdvpe rnsslralrr splhqplhpl ppdgaihcpp
      901 yqndcgrmpr sasfqdvdta nsschhqdrg galqdrespr sysstltdmg rsaprerrgt
      961 pekeklpaka vydfkaqtsk elsfkkgdtv yilrkidqnw yegehhgrvg ifpisyvekl
     1021 tppekaqpar ppppaqpgei geaiakynfn adtnvelslr kgdrvillkr vdqnwyegki
     1081 pgtnrqgifp vsyvevvkkn tkgaedypdp piphsyssdr ihslssnkpq rpvftheniq
     1141 gggepfqaly nytprnedel elresdvidv mekcddgwfv gtsrrtkffg tfpgnyvkrl
//
LOCUS       NP_001294985             205 aa            linear   PRI 12-FEB-2023
DEFINITION  stAR-related lipid transfer protein 4 isoform a [Homo sapiens].
ACCESSION   NP_001294985 XP_005271938
VERSION     NP_001294985.1
DBSOURCE    REFSEQ: accession NM_001308056.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 205)
  AUTHORS   Yue X, Kong Y, Zhang Y, Sun M, Liu S, Wu Z, Gao L, Liang X and Ma
            C.
  TITLE     SREBF2-STARD4 axis confers sorafenib resistance in hepatocellular
            carcinoma by regulating mitochondrial cholesterol homeostasis
  JOURNAL   Cancer Sci 114 (2), 477-489 (2023)
   PUBMED   35642354
  REMARK    GeneRIF: SREBF2-STARD4 axis confers sorafenib resistance in
            hepatocellular carcinoma by regulating mitochondrial cholesterol
            homeostasis.
REFERENCE   2  (residues 1 to 205)
  AUTHORS   Huang T, Shan R, Zhang M, Li L, Huang J, Liu B and Zhou W.
  TITLE     [Steroidogenic acute regulatory protein-related lipid transfer 4
            (StarD4) promotes breast cancer cell proliferation and its
            mechanism]
  JOURNAL   Sheng Wu Yi Xue Gong Cheng Xue Za Zhi 38 (6), 1118-1125 (2021)
   PUBMED   34970895
  REMARK    GeneRIF: [Steroidogenic acute regulatory protein-related lipid
            transfer 4 (StarD4) promotes breast cancer cell proliferation and
            its mechanism].
REFERENCE   3  (residues 1 to 205)
  AUTHORS   Zhang M, Xiang Z, Wang F, Shan R, Li L, Chen J, Liu BA, Huang J,
            Sun LQ and Zhou WB.
  TITLE     STARD4 promotes breast cancer cell malignancy
  JOURNAL   Oncol Rep 44 (6), 2487-2502 (2020)
   PUBMED   33125124
  REMARK    GeneRIF: STARD4 promotes breast cancer cell malignancy.
REFERENCE   4  (residues 1 to 205)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 205)
  AUTHORS   Iaea DB, Spahr ZR, Singh RK, Chan RB, Zhou B, Bareja R, Elemento O,
            Di Paolo G, Zhang X and Maxfield FR.
  TITLE     Stable reduction of STARD4 alters cholesterol regulation and lipid
            homeostasis
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1865 (4), 158609 (2020)
   PUBMED   31917335
  REMARK    GeneRIF: Knockdown of STARD4, a sterol transporter, leads to large
            changes in the lipidome.  STARD4-KD cells also have large changes
            in their mRNA profile. There is an increase in cellular
            cholesterol, including in late endosomes. These results indicate
            that STARD4 plays important roles in lipid homeostasis.
REFERENCE   6  (residues 1 to 205)
  AUTHORS   Rodriguez-Agudo D, Ren S, Wong E, Marques D, Redford K, Gil G,
            Hylemon P and Pandak WM.
  TITLE     Intracellular cholesterol transporter StarD4 binds free cholesterol
            and increases cholesteryl ester formation
  JOURNAL   J Lipid Res 49 (7), 1409-1419 (2008)
   PUBMED   18403318
  REMARK    GeneRIF: StarD4 plays an important role as a directional
            cholesterol transporter in the maintenance of cellular cholesterol
            homeostasis
REFERENCE   7  (residues 1 to 205)
  AUTHORS   Kim JM, Lee KH, Jeon YJ, Oh JH, Jeong SY, Song IS, Kim JM, Lee DS
            and Kim NS.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
REFERENCE   8  (residues 1 to 205)
  AUTHORS   Yamada S, Yamaguchi T, Hosoda A, Iwawaki T and Kohno K.
  TITLE     Regulation of human STARD4 gene expression under endoplasmic
            reticulum stress
  JOURNAL   Biochem Biophys Res Commun 343 (4), 1079-1085 (2006)
   PUBMED   16579971
  REMARK    GeneRIF: Induction of STARD4 depended on both transcription factor
            ATF6 and an ERSE-like element in its promoter.
REFERENCE   9  (residues 1 to 205)
  AUTHORS   Soccio RE, Adams RM, Maxwell KN and Breslow JL.
  TITLE     Differential gene regulation of StarD4 and StarD5 cholesterol
            transfer proteins. Activation of StarD4 by sterol regulatory
            element-binding protein-2 and StarD5 by endoplasmic reticulum
            stress
  JOURNAL   J Biol Chem 280 (19), 19410-19418 (2005)
   PUBMED   15760897
  REMARK    GeneRIF: StarD4 is regulated by sterols via SREBP-2, and StarD5 is
            activated by ER stress cholesterol metabolism; they serve different
            functions
REFERENCE   10 (residues 1 to 205)
  AUTHORS   Soccio RE, Adams RM, Romanowski MJ, Sehayek E, Burley SK and
            Breslow JL.
  TITLE     The cholesterol-regulated StarD4 gene encodes a StAR-related lipid
            transfer protein with two closely related homologues, StarD5 and
            StarD6
  JOURNAL   Proc Natl Acad Sci U S A 99 (10), 6943-6948 (2002)
   PUBMED   12011452
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB475661.1, AL710253.1, AK054566.1, AK125317.1, BI091150.1,
            AK026207.1 and BU607573.1.
            On Apr 21, 2015 this sequence version replaced XP_005271938.1.
            
            Summary: Cholesterol homeostasis is regulated, at least in part, by
            sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM
            184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon
            sterol depletion, LXRs are inactive and SREBPs are cleaved, after
            which they bind promoter SREs and activate genes involved in
            cholesterol biosynthesis and uptake. Sterol transport is mediated
            by vesicles or by soluble protein carriers, such as steroidogenic
            acute regulatory protein (STAR; MIM 600617). STAR is homologous to
            a family of proteins containing a 200- to 210-amino acid
            STAR-related lipid transfer (START) domain, including STARD4
            (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar
            2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2230982.1,
                                           SRR14038192.1431407.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267753, SAMN03267764
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.1"
     Protein         1..205
                     /product="stAR-related lipid transfer protein 4 isoform a"
                     /note="START domain containing 4, sterol regulated;
                     stAR-related lipid transfer protein 4; START
                     domain-containing protein 4; StAR-related lipid transfer
                     (START) domain containing 4"
                     /calculated_mol_wt=23386
     Region          5..205
                     /region_name="SRPBCC"
                     /note="START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC)
                     ligand-binding domain superfamily; cl14643"
                     /db_xref="CDD:449340"
     Site            order(53,55,57,66..68,70..71,86,97,99,101,103,118,120,122,
                     131,133,152..153,155,157,169,171,173,175,186..190,
                     192..193,196..198,201)
                     /site_type="active"
                     /note="hydrophobic ligand binding site [active]"
                     /db_xref="CDD:176854"
     CDS             1..205
                     /gene="STARD4"
                     /coded_by="NM_001308056.2:155..772"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS4104.1"
                     /db_xref="GeneID:134429"
                     /db_xref="HGNC:HGNC:18058"
                     /db_xref="MIM:607049"
ORIGIN      
        1 meglsdvasf atklkntliq yhsieedkwr vakktkdvtv wrkpseefng ylykaqgvid
       61 dlvysiidhi rpgpcrldwd slmtsldile nfeenccvmr yttagqlwni isprefvdfs
      121 ytvgykegll scgisldwde krpefvrgyn hpcgwfcvpl kdnpnqsllt gyiqtdlrgm
      181 ipqsavdtam astltnfygd lrkal
//
LOCUS       NP_000143                952 aa            linear   PRI 12-MAR-2023
DEFINITION  lysosomal alpha-glucosidase preproprotein [Homo sapiens].
ACCESSION   NP_000143
VERSION     NP_000143.2
DBSOURCE    REFSEQ: accession NM_000152.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 952)
  AUTHORS   Kan SH, Huang JY, Harb J, Rha A, Dalton ND, Christensen C, Chan Y,
            Davis-Turak J, Neumann J and Wang RY.
  TITLE     CRISPR-mediated generation and characterization of a Gaa homozygous
            c.1935C>A (p.D645E) Pompe disease knock-in mouse model
            recapitulating human infantile onset-Pompe disease
  JOURNAL   Sci Rep 12 (1), 21576 (2022)
   PUBMED   36517654
  REMARK    GeneRIF: CRISPR-mediated generation and characterization of a Gaa
            homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model
            recapitulating human infantile onset-Pompe disease.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 952)
  AUTHORS   Dong R, Wei X, Zhang K, Song F, Lv Y, Gao M, Wang D, Ma J, Gai Z
            and Liu Y.
  TITLE     Genotypic and phenotypic characteristics of 12 chinese children
            with glycogen storage diseases
  JOURNAL   Front Genet 13, 932760 (2022)
   PUBMED   36105079
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 952)
  AUTHORS   Ceron-Rodriguez M, Castillo-Garcia D, Acosta-Rodriguez-Bueno CP,
            Aguirre-Hernandez J, Murillo-Eliosa JR, Valencia-Mayoral P,
            Escobar-Sanchez A and Salgado-Loza JL.
  TITLE     Classic infantile-onset Pompe disease with histopathological
            neurologic findings linked to a novel GAA gene 4 bp deletion: A
            case study
  JOURNAL   Mol Genet Genomic Med 10 (7), e1957 (2022)
   PUBMED   35532199
REFERENCE   4  (residues 1 to 952)
  AUTHORS   Lim JA, Li L and Raben N.
  TITLE     Pompe disease: from pathophysiology to therapy and back again
  JOURNAL   Front Aging Neurosci 6, 177 (2014)
   PUBMED   25183957
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 952)
  AUTHORS   Moreland RJ, Jin X, Zhang XK, Decker RW, Albee KL, Lee KL, Cauthron
            RD, Brewer K, Edmunds T and Canfield WM.
  TITLE     Lysosomal acid alpha-glucosidase consists of four different
            peptides processed from a single chain precursor
  JOURNAL   J Biol Chem 280 (8), 6780-6791 (2005)
   PUBMED   15520017
  REMARK    GeneRIF: data show that the mature forms of GAA characterized by
            polypeptides of 76 or 70 kDa are in fact larger molecular mass
            multicomponent enzyme complexes; peptides released during
            proteolytic processing remained tightly associated with the major
            species
REFERENCE   6  (residues 1 to 952)
  AUTHORS   Leslie,N. and Bailey,L.
  TITLE     Pompe Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301438
REFERENCE   7  (residues 1 to 952)
  AUTHORS   Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N and
            Hirschhorn R.
  TITLE     Identification of a missense mutation in an adult-onset patient
            with glycogenosis type II expressing only one allele
  JOURNAL   DNA Cell Biol 10 (9), 681-687 (1991)
   PUBMED   1684505
REFERENCE   8  (residues 1 to 952)
  AUTHORS   Zhong N, Martiniuk F, Tzall S and Hirschhorn R.
  TITLE     Identification of a missense mutation in one allele of a patient
            with Pompe disease, and use of endonuclease digestion of
            PCR-amplified RNA to demonstrate lack of mRNA expression from the
            second allele
  JOURNAL   Am J Hum Genet 49 (3), 635-645 (1991)
   PUBMED   1652892
REFERENCE   9  (residues 1 to 952)
  AUTHORS   Hermans MM, Kroos MA, van Beeumen J, Oostra BA and Reuser AJ.
  TITLE     Human lysosomal alpha-glucosidase. Characterization of the
            catalytic site
  JOURNAL   J Biol Chem 266 (21), 13507-13512 (1991)
   PUBMED   1856189
REFERENCE   10 (residues 1 to 952)
  AUTHORS   Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J,
            Reuser AJ and Oostra BA.
  TITLE     Primary structure and processing of lysosomal alpha-glucosidase;
            homology with the intestinal sucrase-isomaltase complex
  JOURNAL   EMBO J 7 (6), 1697-1704 (1988)
   PUBMED   3049072
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY101855.1, HY047261.1,
            HY015584.1, Y00839.1, BF206270.1, M34424.1, BQ711289.1, BC040431.1
            and BF344248.1.
            On Dec 14, 2006 this sequence version replaced NP_000143.1.
            
            Summary: This gene encodes lysosomal alpha-glucosidase, which is
            essential for the degradation of glycogen to glucose in lysosomes.
            The encoded preproprotein is proteolytically processed to generate
            multiple intermediate forms and the mature form of the enzyme.
            Defects in this gene are the cause of glycogen storage disease II,
            also known as Pompe's disease, which is an autosomal recessive
            disorder with a broad clinical spectrum. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jan
            2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2, and 3 all encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Y00839.1, SRR1660809.207766.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302262.8/ ENSP00000305692.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..952
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..952
                     /product="lysosomal alpha-glucosidase preproprotein"
                     /EC_number="3.2.1.20"
                     /note="lysosomal alpha-glucosidase; acid maltase;
                     aglucosidase alfa; glucosidase alpha, acid"
                     /calculated_mol_wt=102839
     sig_peptide     1..24
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2503
     Region          47..82
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P10253.4)"
     mat_peptide     70..952
                     /product="Lysosomal alpha-glucosidase. /id=PRO_0000018566"
                     /note="propagated from UniProtKB/Swiss-Prot (P10253.4)"
                     /calculated_mol_wt=98009
     Region          81..132
                     /region_name="PD"
                     /note="P or trefoil or TFF domain; smart00018"
                     /db_xref="CDD:197472"
     Site            order(95,125..126)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:238059"
     Site            order(111,125)
                     /site_type="active"
                     /note="putative binding specificity loop [active]"
                     /db_xref="CDD:238059"
     mat_peptide     123..952
                     /product="76 kDa lysosomal alpha-glucosidase.
                     /id=PRO_0000018567"
                     /note="propagated from UniProtKB/Swiss-Prot (P10253.4)"
                     /calculated_mol_wt=92314
     Site            140
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:29061980, ECO:0000269|PubMed:8435067,
                     ECO:0000269|Ref.19, ECO:0007744|PDB:5KZW,
                     ECO:0007744|PDB:5NN3; propagated from UniProtKB/Swiss-Prot
                     (P10253.4)"
     Region          159..254
                     /region_name="NtCtMGAM_N"
                     /note="N-terminal barrel of NtMGAM and CtMGAM,
                     maltase-glucoamylase; pfam16863"
                     /db_xref="CDD:435612"
     mat_peptide     204..952
                     /product="70 kDa lysosomal alpha-glucosidase.
                     /id=PRO_0000018568"
                     /note="propagated from UniProtKB/Swiss-Prot (P10253.4)"
                     /calculated_mol_wt=82826
     Site            233
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:29061980,
                     ECO:0000269|PubMed:8435067, ECO:0000269|Ref.19,
                     ECO:0007744|PDB:5KZW, ECO:0007744|PDB:5NN3; propagated
                     from UniProtKB/Swiss-Prot (P10253.4)"
     Region          246..359
                     /region_name="GH31_N"
                     /note="N-terminal domain of glycosyl hydrolase family 31
                     (GH31); cd14752"
                     /db_xref="CDD:270212"
     Site            282
                     /site_type="active"
                     /db_xref="CDD:270212"
     Region          340..824
                     /region_name="Glyco_hydro_31"
                     /note="Glycosyl hydrolases family 31; pfam01055"
                     /db_xref="CDD:426018"
     Site            order(376,404..405,441,481,516,518..519,600,613,616,649,
                     674)
                     /site_type="active"
                     /db_xref="CDD:269888"
     Site            390
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:29061980, ECO:0000269|PubMed:8435067,
                     ECO:0000269|Ref.19, ECO:0007744|PDB:5KZW,
                     ECO:0007744|PDB:5NN3; propagated from UniProtKB/Swiss-Prot
                     (P10253.4)"
     Site            470
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:29061980,
                     ECO:0000269|PubMed:8435067, ECO:0000269|Ref.19,
                     ECO:0007744|PDB:5KZW, ECO:0007744|PDB:5NN3; propagated
                     from UniProtKB/Swiss-Prot (P10253.4)"
     Site            652
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:29061980,
                     ECO:0000269|PubMed:8435067, ECO:0000269|Ref.19,
                     ECO:0007744|PDB:5KZW, ECO:0007744|PDB:5NN3; propagated
                     from UniProtKB/Swiss-Prot (P10253.4)"
     Site            882
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:29061980, ECO:0000269|PubMed:8435067,
                     ECO:0000269|Ref.19, ECO:0007744|PDB:5KZW,
                     ECO:0007744|PDB:5NN3; propagated from UniProtKB/Swiss-Prot
                     (P10253.4)"
     Site            925
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:8435067; propagated from
                     UniProtKB/Swiss-Prot (P10253.4)"
     CDS             1..952
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /coded_by="NM_000152.5:343..3201"
                     /db_xref="CCDS:CCDS32760.1"
                     /db_xref="GeneID:2548"
                     /db_xref="HGNC:HGNC:4065"
                     /db_xref="MIM:606800"
ORIGIN      
        1 mgvrhppcsh rllavcalvs lataallghi llhdfllvpr elsgsspvle ethpahqqga
       61 srpgprdaqa hpgrpravpt qcdvppnsrf dcapdkaitq eqceargccy ipakqglqga
      121 qmgqpwcffp psypsyklen lsssemgyta tltrttptff pkdiltlrld vmmetenrlh
      181 ftikdpanrr yevpletphv hsrapsplys vefseepfgv ivrrqldgrv llnttvaplf
      241 fadqflqlst slpsqyitgl aehlsplmls tswtritlwn rdlaptpgan lygshpfyla
      301 ledggsahgv fllnsnamdv vlqpspalsw rstggildvy iflgpepksv vqqyldvvgy
      361 pfmppywglg fhlcrwgyss taitrqvven mtrahfpldv qwndldymds rrdftfnkdg
      421 frdfpamvqe lhqggrrymm ivdpaisssg pagsyrpyde glrrgvfitn etgqpligkv
      481 wpgstafpdf tnptalawwe dmvaefhdqv pfdgmwidmn epsnfirgse dgcpnnelen
      541 ppyvpgvvgg tlqaaticas shqflsthyn lhnlygltea iashralvka rgtrpfvisr
      601 stfaghgrya ghwtgdvwss weqlassvpe ilqfnllgvp lvgadvcgfl gntseelcvr
      661 wtqlgafypf mrnhnsllsl pqepysfsep aqqamrkalt lryallphly tlfhqahvag
      721 etvarplfle fpkdsstwtv dhqllwgeal litpvlqagk aevtgyfplg twydlqtvpv
      781 ealgslpppp aaprepaihs egqwvtlpap ldtinvhlra gyiiplqgpg ltttesrqqp
      841 malavaltkg geargelfwd dgeslevler gaytqvifla rnntivnelv rvtsegaglq
      901 lqkvtvlgva tapqqvlsng vpvsnftysp dtkvldicvs llmgeqflvs wc
//
LOCUS       NP_005175                149 aa            linear   PRI 14-MAR-2023
DEFINITION  calmodulin-3 isoform 1 [Homo sapiens].
ACCESSION   NP_005175
VERSION     NP_005175.2
DBSOURCE    REFSEQ: accession NM_005184.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 149)
  AUTHORS   Alphonse N, Wanford JJ, Voak AA, Gay J, Venkhaya S, Burroughs O,
            Mathew S, Lee T, Evans SL, Zhao W, Frowde K, Alrehaili A, Dickenson
            RE, Munk M, Panina S, Mahmood IF, Llorian M, Stanifer ML, Boulant
            S, Berchtold MW, Bergeron JRC, Wack A, Lesser CF and Odendall C.
  TITLE     A family of conserved bacterial virulence factors dampens
            interferon responses by blocking calcium signaling
  JOURNAL   Cell 185 (13), 2354-2369 (2022)
   PUBMED   35568036
REFERENCE   2  (residues 1 to 149)
  AUTHORS   Kato K, Isbell HM, Fressart V, Denjoy I, Debbiche A, Itoh H,
            Poinsot J, George AL Jr, Coulombe A, Shea MA and Guicheney P.
  TITLE     Novel CALM3 Variant Causing Calmodulinopathy With Variable
            Expressivity in a 4-Generation Family
  JOURNAL   Circ Arrhythm Electrophysiol 15 (3), e010572 (2022)
   PUBMED   35225649
  REMARK    GeneRIF: Novel CALM3 Variant Causing Calmodulinopathy With Variable
            Expressivity in a 4-Generation Family.
REFERENCE   3  (residues 1 to 149)
  AUTHORS   Clemens DJ, Gray B, Bagnall RD, Tester DJ, Giudicessi JR,
            Maleszewski JJ, Crotti L, Schwartz PJ, Matthews E, Semsarian C,
            Behr ER and Ackerman MJ.
  TITLE     Prevalence and Phenotypic Correlations of
            Calmodulinopathy-Causative CALM1-3 Variants Detected in a
            Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death
            Victims
  JOURNAL   Circ Genom Precis Med 13 (6), e003032 (2020)
   PUBMED   33191766
  REMARK    GeneRIF: Prevalence and Phenotypic Correlations of
            Calmodulinopathy-Causative CALM1-3 Variants Detected in a
            Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death
            Victims.
REFERENCE   4  (residues 1 to 149)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 149)
  AUTHORS   Napolitano,C., Mazzanti,A., Bloise,R. and Priori,S.G.
  TITLE     Catecholaminergic Polymorphic Ventricular Tachycardia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301466
REFERENCE   6  (residues 1 to 149)
  AUTHORS   Chattopadhyaya R, Meador WE, Means AR and Quiocho FA.
  TITLE     Calmodulin structure refined at 1.7 A resolution
  JOURNAL   J Mol Biol 228 (4), 1177-1192 (1992)
   PUBMED   1474585
REFERENCE   7  (residues 1 to 149)
  AUTHORS   Pegues JC and Friedberg F.
  TITLE     Multiple mRNAs encoding human calmodulin
  JOURNAL   Biochem Biophys Res Commun 172 (3), 1145-1149 (1990)
   PUBMED   2244899
REFERENCE   8  (residues 1 to 149)
  AUTHORS   Koller M, Schnyder B and Strehler EE.
  TITLE     Structural organization of the human CaMIII calmodulin gene
  JOURNAL   Biochim Biophys Acta 1087 (2), 180-189 (1990)
   PUBMED   2223880
REFERENCE   9  (residues 1 to 149)
  AUTHORS   Fischer R, Koller M, Flura M, Mathews S, Strehler-Page MA, Krebs J,
            Penniston JT, Carafoli E and Strehler EE.
  TITLE     Multiple divergent mRNAs code for a single human calmodulin
  JOURNAL   J Biol Chem 263 (32), 17055-17062 (1988)
   PUBMED   3182832
REFERENCE   10 (residues 1 to 149)
  AUTHORS   SenGupta B, Friedberg F and Detera-Wadleigh SD.
  TITLE     Molecular analysis of human and rat calmodulin complementary DNA
            clones. Evidence for additional active genes in these species
  JOURNAL   J Biol Chem 262 (34), 16663-16670 (1987)
   PUBMED   2445749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC006182.1, BC005137.2 and
            AW883334.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 26, 2005 this sequence version replaced NP_005175.1.
            
            Summary: This gene encodes a member of a family of proteins that
            binds calcium and functions as a enzymatic co-factor. Activity of
            this protein is important in the regulation of the cell cycle and
            cytokinesis. Multiple alternatively spliced transcript variants
            have been observed at this gene. [provided by RefSeq, Aug 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1 and 3
            encode the same protein (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC005137.2, SRR3476690.535809.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291295.14/ ENSP00000291295.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..149
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     Protein         1..149
                     /product="calmodulin-3 isoform 1"
                     /EC_number="2.7.11.19"
                     /note="prepro-calmodulin 3; epididymis secretory protein
                     Li 72; phosphorylase kinase subunit delta; Calmodulin-1;
                     Calmodulin-2; phosphorylase kinase subunit delta 3"
                     /calculated_mol_wt=16706
     Region          1..149
                     /region_name="PTZ00184"
                     /note="calmodulin; Provisional"
                     /db_xref="CDD:185504"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000269|PubMed:7093203, ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378, ECO:0007744|PubMed:25944712;
                     propagated from UniProtKB/Swiss-Prot (P0DP25.1)"
     Site            22
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P0DP25.1)"
     Site            45
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CaMK4.
                     /evidence=ECO:0000250|UniProtKB:P0DP31; propagated from
                     UniProtKB/Swiss-Prot (P0DP25.1)"
     Region          77..149
                     /region_name="Necessary and sufficient for interaction
                     with PCP4. /evidence=ECO:0000269|PubMed:27876793"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DP25.1)"
     Site            82
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P0DP25.1)"
     Site            95
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P0DP25.1)"
     Site            100
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P0DP25.1)"
     Site            102
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P0DP25.1)"
     Site            111
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P0DP25.1)"
     Site            116
                     /site_type="methylation"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:7093203,
                     ECO:0007744|PubMed:24129315; N6-methyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P0DP25.1)"
     Site            139
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P0DP25.1)"
     CDS             1..149
                     /gene="CALM3"
                     /gene_synonym="CALM; CaM; CAM1; CAM2; CAMB; CaMIII; CPVT6;
                     HEL-S-72; LQT16; PHKD; PHKD3"
                     /coded_by="NM_005184.4:106..555"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS33061.1"
                     /db_xref="GeneID:808"
                     /db_xref="HGNC:HGNC:1449"
                     /db_xref="MIM:114183"
ORIGIN      
        1 madqlteeqi aefkeafslf dkdgdgtitt kelgtvmrsl gqnpteaelq dminevdadg
       61 ngtidfpefl tmmarkmkdt dseeeireaf rvfdkdgngy isaaelrhvm tnlgekltde
      121 evdemiread idgdgqvnye efvqmmtak
//
LOCUS       NP_001186356             485 aa            linear   PRI 15-MAR-2023
DEFINITION  TNF receptor-associated factor 3 isoform 3 [Homo sapiens].
ACCESSION   NP_001186356
VERSION     NP_001186356.1
DBSOURCE    REFSEQ: accession NM_001199427.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 485)
  AUTHORS   Zheng W, Zhou Z, Rui Y, Ye R, Xia F, Guo F, Liu X, Su J, Lou M and
            Yu XF.
  TITLE     TRAF3 activates STING-mediated suppression of EV-A71 and target of
            viral evasion
  JOURNAL   Signal Transduct Target Ther 8 (1), 79 (2023)
   PUBMED   36823147
  REMARK    GeneRIF: TRAF3 activates STING-mediated suppression of EV-A71 and
            target of viral evasion.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 485)
  AUTHORS   Rae W, Sowerby JM, Verhoeven D, Youssef M, Kotagiri P, Savinykh N,
            Coomber EL, Boneparth A, Chan A, Gong C, Jansen MH, du Long R,
            Santilli G, Simeoni I, Stephens J, Wu K, Zinicola M, Allen HL,
            Baxendale H, Kumararatne D, Gkrania-Klotsas E, Scheffler Mendoza
            SC, Yamazaki-Nakashimada MA, Ruiz LB, Rojas-Maruri CM, Lugo Reyes
            SO, Lyons PA, Williams AP, Hodson DJ, Bishop GA, Thrasher AJ,
            Thomas DC, Murphy MP, Vyse TJ, Milner JD, Kuijpers TW and Smith
            KGC.
  TITLE     Immunodeficiency, autoimmunity, and increased risk of B cell
            malignancy in humans with TRAF3 mutations
  JOURNAL   Sci Immunol 7 (74), eabn3800 (2022)
   PUBMED   35960817
  REMARK    GeneRIF: Immunodeficiency, autoimmunity, and increased risk of B
            cell malignancy in humans with TRAF3 mutations.
REFERENCE   3  (residues 1 to 485)
  AUTHORS   Perez-Carretero C, Hernandez-Sanchez M, Gonzalez T, Quijada-Alamo
            M, Martin-Izquierdo M, Santos-Minguez S, Miguel-Garcia C, Vidal MJ,
            Garcia-De-Coca A, Galende J, Pardal E, Aguilar C, Vargas-Pabon M,
            Davila J, Gascon-Y-Marin I, Hernandez-Rivas JA, Benito R,
            Hernandez-Rivas JM and Rodriguez-Vicente AE.
  TITLE     TRAF3 alterations are frequent in del-3'IGH chronic lymphocytic
            leukemia patients and define a specific subgroup with adverse
            clinical features
  JOURNAL   Am J Hematol 97 (7), 903-914 (2022)
   PUBMED   35472012
  REMARK    GeneRIF: TRAF3 alterations are frequent in del-3'IGH chronic
            lymphocytic leukemia patients and define a specific subgroup with
            adverse clinical features.
REFERENCE   4  (residues 1 to 485)
  AUTHORS   Jin A, Zhang Q, Cheng H, Yang C and Wang X.
  TITLE     Circ_0050908 up-regulates TRAF3 by sponging miR-324-5p to aggravate
            myocardial ischemia-reperfusion injury
  JOURNAL   Int Immunopharmacol 108, 108740 (2022)
   PUBMED   35413678
  REMARK    GeneRIF: Circ_0050908 up-regulates TRAF3 by sponging miR-324-5p to
            aggravate myocardial ischemia-reperfusion injury.
REFERENCE   5  (residues 1 to 485)
  AUTHORS   Liu Y, Gokhale S, Jung J, Zhu S, Luo C, Saha D, Guo JY, Zhang H,
            Kyin S, Zong WX, White E and Xie P.
  TITLE     Mitochondrial Fission Factor Is a Novel Interacting Protein of the
            Critical B Cell Survival Regulator TRAF3 in B Lymphocytes
  JOURNAL   Front Immunol 12, 670338 (2021)
   PUBMED   34745083
  REMARK    GeneRIF: Mitochondrial Fission Factor Is a Novel Interacting
            Protein of the Critical B Cell Survival Regulator TRAF3 in B
            Lymphocytes.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 485)
  AUTHORS   Hsu H, Shu HB, Pan MG and Goeddel DV.
  TITLE     TRADD-TRAF2 and TRADD-FADD interactions define two distinct TNF
            receptor 1 signal transduction pathways
  JOURNAL   Cell 84 (2), 299-308 (1996)
   PUBMED   8565075
REFERENCE   7  (residues 1 to 485)
  AUTHORS   Cheng G, Cleary AM, Ye ZS, Hong DI, Lederman S and Baltimore D.
  TITLE     Involvement of CRAF1, a relative of TRAF, in CD40 signaling
  JOURNAL   Science 267 (5203), 1494-1498 (1995)
   PUBMED   7533327
REFERENCE   8  (residues 1 to 485)
  AUTHORS   Mosialos G, Birkenbach M, Yalamanchili R, VanArsdale T, Ware C and
            Kieff E.
  TITLE     The Epstein-Barr virus transforming protein LMP1 engages signaling
            proteins for the tumor necrosis factor receptor family
  JOURNAL   Cell 80 (3), 389-399 (1995)
   PUBMED   7859281
REFERENCE   9  (residues 1 to 485)
  AUTHORS   Sato T, Irie S and Reed JC.
  TITLE     A novel member of the TRAF family of putative signal transducing
            proteins binds to the cytosolic domain of CD40
  JOURNAL   FEBS Lett 358 (2), 113-118 (1995)
   PUBMED   7530216
REFERENCE   10 (residues 1 to 485)
  AUTHORS   Hu HM, O'Rourke K, Boguski MS and Dixit VM.
  TITLE     A novel RING finger protein interacts with the cytoplasmic domain
            of CD40
  JOURNAL   J Biol Chem 269 (48), 30069-30072 (1994)
   PUBMED   7527023
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL132801.5, U21092.1,
            AK303172.1, AL117209.7 and BQ000015.1.
            
            Summary: The protein encoded by this gene is a member of the TNF
            receptor associated factor (TRAF) protein family. TRAF proteins
            associate with, and mediate the signal transduction from, members
            of the TNF receptor (TNFR) superfamily. This protein participates
            in the signal transduction of CD40, a TNFR family member important
            for the activation of the immune response. This protein is found to
            be a critical component of the lymphotoxin-beta receptor (LTbetaR)
            signaling complex, which induces NF-kappaB activation and cell
            death initiated by LTbeta ligation. Epstein-Barr virus encoded
            latent infection membrane protein-1 (LMP1) can interact with this
            and several other members of the TRAF family, which may be
            essential for the oncogenic effects of LMP1. The protein also plays
            a role in the regulation of antiviral response. Mutations in this
            are associated with Encephalopathy, acute, infection-induced,
            herpes-specific 5. [provided by RefSeq, Jul 2020].
            
            Transcript Variant: This variant (4) differs in the 5' UTR and
            lacks an in-frame coding segment compared to variant 1. The
            resulting isoform (2) lacks an internal region as compared to
            isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1311323.1, AK303172.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in immune response or antiviral
                                   activity
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..485
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.32"
     Protein         1..485
                     /product="TNF receptor-associated factor 3 isoform 3"
                     /EC_number="2.3.2.27"
                     /note="CD40 binding protein; CD40 receptor associated
                     factor 1; CD40 associated protein 1; RING-type E3
                     ubiquitin transferase TRAF3; LMP1-associated protein 1"
                     /calculated_mol_wt=55175
     Region          51..92
                     /region_name="RING-HC_TRAF3"
                     /note="RING finger, HC subclass, found in tumor necrosis
                     factor (TNF) receptor-associated factor 3 (TRAF3) and
                     similar proteins; cd16640"
                     /db_xref="CDD:438302"
     Region          136..190
                     /region_name="zf-TRAF"
                     /note="TRAF-type zinc finger; pfam02176"
                     /db_xref="CDD:280357"
     Region          <190..>350
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          295..480
                     /region_name="MATH_TRAF3"
                     /note="Tumor Necrosis Factor Receptor (TNFR)-Associated
                     Factor (TRAF) family, TRAF3 subfamily, TRAF domain; TRAF
                     molecules serve as adapter proteins that link TNFRs and
                     downstream kinase cascades resulting in the activation of
                     transcription factors and the...; cd03777"
                     /db_xref="CDD:239746"
     Site            order(316,319,327,329,336,338,366..367,398,401,418)
                     /site_type="other"
                     /note="trimer interface [polypeptide binding]"
                     /db_xref="CDD:239746"
     Site            order(374,376,380,382,391,429,432,437,447..450)
                     /site_type="active"
                     /note="TNFR binding site [active]"
                     /db_xref="CDD:239746"
     CDS             1..485
                     /gene="TRAF3"
                     /gene_synonym="CAP-1; CAP1; CD40bp; CRAF1; IIAE5; LAP1;
                     RNF118"
                     /coded_by="NM_001199427.2:245..1702"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS55946.1"
                     /db_xref="GeneID:7187"
                     /db_xref="HGNC:HGNC:12033"
                     /db_xref="MIM:601896"
ORIGIN      
        1 messkkmdsp galqtnpplk lhtdrsagtp vfvpeqggyk ekfvktvedk ykcekchlvl
       61 cspkqtecgh rfcescmaal lsssspkcta cqesivkdkv fkdncckrei lalqiycrne
      121 srgcaeqlml ghllvhlknd chfeelpcvr pdckekvlrk dlrdhvekac kyreatcshc
      181 ksqvpmialq vsllqnesve knksiqslhn qicsfeieie rqkemlrnne skilhlqrvi
      241 dsqaeklkel dkeirpfrqn weeadsmkss veslqnrvte lesvdksagq varntglles
      301 qlsrhdqmls vhdirladmd lrfqvletas yngvliwkir dykrrkqeav mgktlslysq
      361 pfytgyfgyk mcarvylngd gmgkgthlsl ffvimrgeyd allpwpfkqk vtlmlmdqgs
      421 srrhlgdafk pdpnsssfkk ptgemniasg cpvfvaqtvl engtyikddt ifikvivdts
      481 dlpdp
//
LOCUS       NP_001305818             402 aa            linear   PRI 15-MAR-2023
DEFINITION  T-cell surface protein tactile isoform 3 [Homo sapiens].
ACCESSION   NP_001305818
VERSION     NP_001305818.1
DBSOURCE    REFSEQ: accession NM_001318889.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 402)
  AUTHORS   Li J, Xia Q, Di C, Li C, Si H, Zhou B, Yu S, Li Y, Huang J, Lu Y,
            Huang M, Liang H, Liu X and Zhao Q.
  TITLE     Tumor Cell-Intrinsic CD96 Mediates Chemoresistance and Cancer
            Stemness by Regulating Mitochondrial Fatty Acid beta-Oxidation
  JOURNAL   Adv Sci (Weinh) 10 (7), e2202956 (2023)
   PUBMED   36581470
  REMARK    GeneRIF: Tumor Cell-Intrinsic CD96 Mediates Chemoresistance and
            Cancer Stemness by Regulating Mitochondrial Fatty Acid
            beta-Oxidation.
REFERENCE   2  (residues 1 to 402)
  AUTHORS   Verma K, Croft W, Pearce H, Zuo J, Stephens C, Nunnick J, Kinsella
            FA, Malladi R and Moss P.
  TITLE     Early expression of CD94 and loss of CD96 on CD8+ T cells after
            allogeneic stem cell tranplantation is predictive of subsequent
            relapse and survival
  JOURNAL   Haematologica 108 (2), 433-443 (2023)
   PUBMED   35924575
  REMARK    GeneRIF: Early expression of CD94 and loss of CD96 on CD8+ T cells
            after allogeneic stem cell tranplantation is predictive of
            subsequent relapse and survival.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 402)
  AUTHORS   Feng S, Isayev O, Werner J and Bazhin AV.
  TITLE     CD96 as a Potential Immune Regulator in Cancers
  JOURNAL   Int J Mol Sci 24 (2), 1303 (2023)
   PUBMED   36674817
  REMARK    GeneRIF: CD96 as a Potential Immune Regulator in Cancers.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 402)
  AUTHORS   Habets DHJ, Schlutter A, van Kuijk SMJ, Spaanderman MEA, Al-Nasiry
            S and Wieten L.
  TITLE     Natural killer cell profiles in recurrent pregnancy loss: Increased
            expression and positive associations with TACTILE and LILRB1
  JOURNAL   Am J Reprod Immunol 88 (5), e13612 (2022)
   PUBMED   36004818
  REMARK    GeneRIF: Natural killer cell profiles in recurrent pregnancy loss:
            Increased expression and positive associations with TACTILE and
            LILRB1.
REFERENCE   5  (residues 1 to 402)
  AUTHORS   Jin HS and Park Y.
  TITLE     Hitting the complexity of the TIGIT-CD96-CD112R-CD226 axis for
            next-generation cancer immunotherapy
  JOURNAL   BMB Rep 54 (1), 2-11 (2021)
   PUBMED   33298247
  REMARK    GeneRIF: Hitting the complexity of the TIGIT-CD96-CD112R-CD226 axis
            for next-generation cancer immunotherapy.
            Review article
REFERENCE   6  (residues 1 to 402)
  AUTHORS   Hosen N, Park CY, Tatsumi N, Oji Y, Sugiyama H, Gramatzki M,
            Krensky AM and Weissman IL.
  TITLE     CD96 is a leukemic stem cell-specific marker in human acute myeloid
            leukemia
  JOURNAL   Proc Natl Acad Sci U S A 104 (26), 11008-11013 (2007)
   PUBMED   17576927
  REMARK    GeneRIF: CD96 is a cell surface marker present on many acute
            myeloid leukemia leukemic stem cells
REFERENCE   7  (residues 1 to 402)
  AUTHORS   Fuchs A, Cella M, Giurisato E, Shaw AS and Colonna M.
  TITLE     Cutting edge: CD96 (tactile) promotes NK cell-target cell adhesion
            by interacting with the poliovirus receptor (CD155)
  JOURNAL   J Immunol 172 (7), 3994-3998 (2004)
   PUBMED   15034010
  REMARK    GeneRIF: CD96 promotes natural killer (NK) cell adhesion to target
            cells expressing the poliovirus receptor (PVR), stimulates
            cytotoxicity of activated NK cells, and mediates acquisition of PVR
            from target cells.
REFERENCE   8  (residues 1 to 402)
  AUTHORS   Gramatzki M, Ludwig WD, Burger R, Moos P, Rohwer P, Grunert C,
            Sendler A, Kalden JR, Andreesen R, Henschke F and Moldenhauer G.
  TITLE     Antibodies TC-12 ('unique') and TH-111 (CD96) characterize T-cell
            acute lymphoblastic leukemia and a subgroup of acute myeloid
            leukemia
  JOURNAL   Exp Hematol 26 (13), 1209-1214 (1998)
   PUBMED   9845376
REFERENCE   9  (residues 1 to 402)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
REFERENCE   10 (residues 1 to 402)
  AUTHORS   Wang PL, O'Farrell S, Clayberger C and Krensky AM.
  TITLE     Identification and molecular cloning of tactile. A novel human T
            cell activation antigen that is a member of the Ig gene superfamily
  JOURNAL   J Immunol 148 (8), 2600-2608 (1992)
   PUBMED   1313846
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC020749.1 and AC055748.21.
            
            Summary: The protein encoded by this gene belongs to the
            immunoglobulin superfamily. It is a type I membrane protein. The
            protein may play a role in the adhesive interactions of activated T
            and NK cells during the late phase of the immune response. It may
            also function in antigen presentation. Alternative splicing
            generates multiple transcript variants encoding distinct isoforms.
            [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (3) lacks several exons and its 3'
            terminal exon extends past a splice site that is used in variant 1.
            This results in a novel 3' coding region and 3' UTR, compared to
            variant 1. It encodes isoform 3 which is shorter and has a distinct
            C-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC020749.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..402
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.13-q13.2"
     Protein         1..402
                     /product="T-cell surface protein tactile isoform 3"
                     /note="T-cell surface protein tactile; T cell activation,
                     increased late expression; cell surface antigen CD96; t
                     cell-activated increased late expression protein"
                     /calculated_mol_wt=45490
     Region          27..126
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          41..45
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          55..59
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          101..105
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          115..120
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..402
                     /gene="CD96"
                     /gene_synonym="TACTILE"
                     /coded_by="NM_001318889.2:53..1261"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS82817.1"
                     /db_xref="GeneID:10225"
                     /db_xref="HGNC:HGNC:16892"
                     /db_xref="MIM:606037"
ORIGIN      
        1 mekkwkycav yyiiqihfvk gvwektvnte envyatlgsd vnltcqtqtv gffvqmqwsk
       61 vtnkidliav yhpqygfyca ygrpceslvt ftetpengsk wtlhlrnmsc svsgryecml
      121 vlypegiqtk iynlliqthv tadewnsnht ieieinqtle ipcfqnsssk isseftyaws
      181 vedngtqetl isqnhlisns tllkdrvklg tdyrlhlspv qifddgrkfs chirvgpnki
      241 lrssttvkvf akpeipvive nnstdvlver rftcllknvf pkanitwfid gsflhdekeg
      301 iyitneerkg kdgflelksv ltrvhsnkpa qsdnltiwcm alspvpgnkv wnissekitf
      361 llgseisstd pplsvtestl dtqpspassv spasknvftl sy
//
LOCUS       NP_001339238             654 aa            linear   PRI 15-MAR-2023
DEFINITION  la-related protein 4 isoform m [Homo sapiens].
ACCESSION   NP_001339238 XP_011536141
VERSION     NP_001339238.1
DBSOURCE    REFSEQ: accession NM_001352309.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 654)
  AUTHORS   Lu M, Gong B, Wang Y and Li J.
  TITLE     CircBNC2 affects epithelial ovarian cancer progression through the
            miR-223-3p/ LARP4 axis
  JOURNAL   Anticancer Drugs 34 (3), 384-394 (2023)
   PUBMED   36730544
  REMARK    GeneRIF: CircBNC2 affects epithelial ovarian cancer progression
            through the miR-223-3p/ LARP4 axis.
REFERENCE   2  (residues 1 to 654)
  AUTHORS   Mattijssen S, Iben JR, Li T, Coon SL and Maraia RJ.
  TITLE     Single molecule poly(A) tail-seq shows LARP4 opposes deadenylation
            throughout mRNA lifespan with most impact on short tails
  JOURNAL   Elife 9, e59186 (2020)
   PUBMED   32744499
  REMARK    GeneRIF: Single molecule poly(A) tail-seq shows LARP4 opposes
            deadenylation throughout mRNA lifespan with most impact on short
            tails.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 654)
  AUTHORS   Zhang X, Su X, Guo Z, Jiang X and Li X.
  TITLE     Circular RNA La-related RNA-binding protein 4 correlates with
            reduced tumor stage, as well as better prognosis, and promotes
            chemosensitivity to doxorubicin in breast cancer
  JOURNAL   J Clin Lab Anal 34 (7), e23272 (2020)
   PUBMED   32187743
  REMARK    GeneRIF: Circular RNA La-related RNA-binding protein 4 correlates
            with reduced tumor stage, as well as better prognosis, and promotes
            chemosensitivity to doxorubicin in breast cancer.
REFERENCE   4  (residues 1 to 654)
  AUTHORS   Weng XD, Yan T and Liu CL.
  TITLE     Circular RNA_LARP4 inhibits cell migration and invasion of prostate
            cancer by targeting FOXO3A
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (10), 5303-5309 (2020)
   PUBMED   32495863
  REMARK    GeneRIF: Circular RNA_LARP4 inhibits cell migration and invasion of
            prostate cancer by targeting FOXO3A.
REFERENCE   5  (residues 1 to 654)
  AUTHORS   Shi JQ, Wang B, Cao XQ, Wang YX, Cheng X, Jia CL, Wen T, Luo BJ and
            Liu ZD.
  TITLE     Circular RNA_LARP4 inhibits the progression of non-small-cell lung
            cancer by regulating the expression of SMAD7
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (4), 1863-1869 (2020)
   PUBMED   32141555
  REMARK    GeneRIF: Circular RNA_LARP4 inhibits the progression of
            non-small-cell lung cancer by regulating the expression of SMAD7.
REFERENCE   6  (residues 1 to 654)
  AUTHORS   Bai SW, Herrera-Abreu MT, Rohn JL, Racine V, Tajadura V,
            Suryavanshi N, Bechtel S, Wiemann S, Baum B and Ridley AJ.
  TITLE     Identification and characterization of a set of conserved and new
            regulators of cytoskeletal organization, cell morphology and
            migration
  JOURNAL   BMC Biol 9, 54 (2011)
   PUBMED   21834987
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 654)
  AUTHORS   Yang R, Gaidamakov SA, Xie J, Lee J, Martino L, Kozlov G, Crawford
            AK, Russo AN, Conte MR, Gehring K and Maraia RJ.
  TITLE     La-related protein 4 binds poly(A), interacts with the
            poly(A)-binding protein MLLE domain via a variant PAM2w motif, and
            can promote mRNA stability
  JOURNAL   Mol Cell Biol 31 (3), 542-556 (2011)
   PUBMED   21098120
  REMARK    GeneRIF: LARP4 activity is integrated with other PAM2 protein
            activities by PABP as part of mRNA homeostasis.
REFERENCE   8  (residues 1 to 654)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   9  (residues 1 to 654)
  AUTHORS   Puigdecanet E, Espinet B, Villa O, Florensa L, Besses C, Serrano S
            and Sole F.
  TITLE     Detection of abnormalities of PRV-1, TPO, and c-MPL genes detected
            by fluorescence in situ hybridization in essential thrombocythemia
  JOURNAL   Cancer Genet Cytogenet 167 (1), 39-42 (2006)
   PUBMED   16682284
  REMARK    GeneRIF: FISH study showed no cytogenetic abnormalities in any of
            the analyzed cases.
REFERENCE   10 (residues 1 to 654)
  AUTHORS   Kralovics R and Skoda RC.
  TITLE     Molecular pathogenesis of Philadelphia chromosome negative
            myeloproliferative disorders
  JOURNAL   Blood Rev 19 (1), 1-13 (2005)
   PUBMED   15572213
  REMARK    GeneRIF: The c-MPL protein altered expression provide an
            opportunity to diagnose and identify subpopulations of MPD
            patients.
            Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090058.21.
            On Jun 9, 2017 this sequence version replaced XP_011536141.1.
            
            Transcript Variant: This variant (13), as well as variants 14-18,
            encodes isoform m.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.769212.1,
                                           SRR14038193.4250555.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..654
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     Protein         1..654
                     /product="la-related protein 4 isoform m"
                     /note="c-Mpl binding protein; La-related protein 4; La
                     ribonucleoprotein domain family member 4"
                     /calculated_mol_wt=73018
     Region          50..124
                     /region_name="LARP_4"
                     /note="La RNA-binding domain of La-related protein 4;
                     cd08035"
                     /db_xref="CDD:153404"
     Site            order(56,59..60,65,68..69,71,90..92)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:153404"
     Region          129..205
                     /region_name="RRM_LARP4"
                     /note="RNA recognition motif (RRM) found in vertebrate
                     La-related protein 4 (LARP4); cd12707"
                     /db_xref="CDD:410106"
     CDS             1..654
                     /gene="LARP4"
                     /gene_synonym="PP13296"
                     /coded_by="NM_001352309.2:383..2347"
                     /note="isoform m is encoded by transcript variant 13"
                     /db_xref="GeneID:113251"
                     /db_xref="HGNC:HGNC:24320"
                     /db_xref="MIM:618657"
ORIGIN      
        1 myssscettr nttgieestd gmilgpedls yqiydvsges nsavstedlk eclkkqlefc
       61 fsrenlskdl ylisqmdsdq fipiwtvanm eeikklttdp dlilevlrss pmvqvdekge
      121 kvrpshkrci vilreipett pieevkglfk sencpkvisc efahnsnwyi tfqsdtdaqq
      181 afkylreevk tfqgkpimar ikaintffak ngyrlmdssi yshpiqtqaq yaspvfmqpv
      241 ynphqqysvy sivpqswspn ptpyfetpla pfpngsfvng fnspgsyktn aaamnmgrpf
      301 qknrvkpqfr ssggsehste gsvslgdgql nryssrnfpa erhnptvtgh qeqtylqket
      361 stlqveqngd ygrgrrtlfr grrrreddri srphpstaes kaptpkfdll asnfpplpgs
      421 ssrmpgelvl enrmsdvvkg vykekdneel tiscpvpade qtectsaqql nmstsspcaa
      481 eltalsttqq ekdliedssv qkdglnqtti pvsppsttkp srastaspcn nninaatava
      541 lqeprklsya evcqkppkep ssvlvqplre lrsnvvsptk nedngapens vekphekpea
      601 raskdysgfr gniiprgaag kireqrrqfs hraipqgvtr rngkeqyvpp rspk
//
LOCUS       NP_001317472             318 aa            linear   PRI 16-MAR-2023
DEFINITION  epithelial-stromal interaction protein 1 isoform 3 [Homo sapiens].
ACCESSION   NP_001317472 XP_005266654
VERSION     NP_001317472.1
DBSOURCE    REFSEQ: accession NM_001330543.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 318)
  AUTHORS   Bei YR, Zhang SC, Song Y, Tang ML, Zhang KL, Jiang M, He RC, Wu SG,
            Liu XH, Wu LM, Dai XY and Hu YW.
  TITLE     EPSTI1 promotes monocyte adhesion to endothelial cells in vitro via
            upregulating VCAM-1 and ICAM-1 expression
  JOURNAL   Acta Pharmacol Sin 44 (1), 71-80 (2023)
   PUBMED   35778487
  REMARK    GeneRIF: EPSTI1 promotes monocyte adhesion to endothelial cells in
            vitro via upregulating VCAM-1 and ICAM-1 expression.
REFERENCE   2  (residues 1 to 318)
  AUTHORS   Wang X, Cheng W, Zeng X, Dou X, Zhou Z and Pei Q.
  TITLE     EPSTI1 as an immune biomarker predicts the prognosis of patients
            with stage III colon cancer
  JOURNAL   Front Immunol 13, 987394 (2022)
   PUBMED   36330510
  REMARK    GeneRIF: EPSTI1 as an immune biomarker predicts the prognosis of
            patients with stage III colon cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 318)
  AUTHORS   Kari A, M Z, Aili Z, Adili A, Hairula N and Abuduhaer A.
  TITLE     Knockdown of EPSTI1 alleviates lipopolysaccharide-induced
            inflammatory injury through regulation of NF-kappaB signaling in a
            cellular pneumonia model
  JOURNAL   Allergol Immunopathol (Madr) 50 (3), 106-112 (2022)
   PUBMED   35527663
  REMARK    GeneRIF: Knockdown of EPSTI1 alleviates lipopolysaccharide-induced
            inflammatory injury through regulation of NF-kappaB signaling in a
            cellular pneumonia model.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 318)
  AUTHORS   Fan M, Arai M, Tawada A, Chiba T, Fukushima R, Uzawa K, Shiiba M,
            Kato N, Tanzawa H and Takiguchi Y.
  TITLE     Contrasting functions of the epithelial-stromal interaction 1 gene,
            in human oral and lung squamous cell cancers
  JOURNAL   Oncol Rep 47 (1) (2022)
   PUBMED   34738627
  REMARK    GeneRIF: Contrasting functions of the epithelialstromal interaction
            1 gene, in human oral and lung squamous cell cancers.
REFERENCE   5  (residues 1 to 318)
  AUTHORS   Chen B, Wei W, Huang X, Xie X, Kong Y, Dai D, Yang L, Wang J, Tang
            H and Xie X.
  TITLE     circEPSTI1 as a Prognostic Marker and Mediator of Triple-Negative
            Breast Cancer Progression
  JOURNAL   Theranostics 8 (14), 4003-4015 (2018)
   PUBMED   30083277
  REMARK    GeneRIF: circEPSTI1,a significantly upregulated circRNA, which is
            derived from the EPSTI1 (epithelial stromal interaction 1) gene
            locus, is an independent prognostic marker for triple-negative
            breast cancer patient survival.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 318)
  AUTHORS   Li T, Lu H, Shen C, Lahiri SK, Wason MS, Mukherjee D, Yu L and Zhao
            J.
  TITLE     Identification of epithelial stromal interaction 1 as a novel
            effector downstream of Kruppel-like factor 8 in breast cancer
            invasion and metastasis
  JOURNAL   Oncogene 33 (39), 4746-4755 (2014)
   PUBMED   24096480
  REMARK    GeneRIF: A novel KLF8 to EPSTI1 to VCP to NF-kappaB signaling
            mechanism potentially critical for breast cancer invasion and
            metastasis.
REFERENCE   7  (residues 1 to 318)
  AUTHORS   de Neergaard M, Kim J, Villadsen R, Fridriksdottir AJ, Rank F,
            Timmermans-Wielenga V, Langerod A, Borresen-Dale AL, Petersen OW
            and Ronnov-Jessen L.
  TITLE     Epithelial-stromal interaction 1 (EPSTI1) substitutes for
            peritumoral fibroblasts in the tumor microenvironment
  JOURNAL   Am J Pathol 176 (3), 1229-1240 (2010)
   PUBMED   20133812
  REMARK    GeneRIF: These observations implicate EPSTI1 as a hitherto
            unappreciated regulator of tumor cell properties.
REFERENCE   8  (residues 1 to 318)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   9  (residues 1 to 318)
  AUTHORS   Ishii T, Onda H, Tanigawa A, Ohshima S, Fujiwara H, Mima T, Katada
            Y, Deguchi H, Suemura M, Miyake T, Miyatake K, Kawase I, Zhao H,
            Tomiyama Y, Saeki Y and Nojima H.
  TITLE     Isolation and expression profiling of genes upregulated in the
            peripheral blood cells of systemic lupus erythematosus patients
  JOURNAL   DNA Res 12 (6), 429-439 (2005)
   PUBMED   16769699
REFERENCE   10 (residues 1 to 318)
  AUTHORS   Nielsen HL, Ronnov-Jessen L, Villadsen R and Petersen OW.
  TITLE     Identification of EPSTI1, a novel gene induced by
            epithelial-stromal interaction in human breast cancer
  JOURNAL   Genomics 79 (5), 703-710 (2002)
   PUBMED   11991720
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL445217.3 and AL137878.11.
            On Aug 29, 2016 this sequence version replaced XP_005266654.1.
            
            Summary: The protein encoded by this gene has been shown to promote
            tumor invasion and metastasis in some invasive cancer cells when
            overexpressed. Expression of this gene has been shown to be
            upregulated by direct binding of the Kruppel like factor 8 protein
            to promoter sequences. The translated protein interacts with the
            amino terminal region of the valosin containing protein gene
            product, resulting in the nuclear translocation of the nuclear
            factor kappa B subunit 1 gene product, and activation of target
            genes. Overexpression of this gene has been observed in some breast
            cancers and in some individuals with systemic lupus erythematosus
            (SLE). [provided by RefSeq, Sep 2016].
            
            Transcript Variant: This variant (3) lacks an alternate exon in the
            3' coding region, which results in a frameshift and a longer 3'
            UTR, compared to variant 1. The encoded isoform (2) is shorter and
            has a distinct C-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.730501.1,
                                           SRR18074968.2176774.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..318
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     Protein         1..318
                     /product="epithelial-stromal interaction protein 1 isoform
                     3"
                     /note="epithelial-stromal interaction protein 1;
                     epithelial stromal interaction 1 (breast)"
                     /calculated_mol_wt=36662
     Region          1..60
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96J88.2)"
     Region          <75..>283
                     /region_name="DUF5401"
                     /note="Family of unknown function (DUF5401); pfam17380"
                     /db_xref="CDD:375164"
     CDS             1..318
                     /gene="EPSTI1"
                     /gene_synonym="BRESI1"
                     /coded_by="NM_001330543.2:77..1033"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS81765.1"
                     /db_xref="GeneID:94240"
                     /db_xref="HGNC:HGNC:16465"
                     /db_xref="MIM:607441"
ORIGIN      
        1 mntrnrvvns glgaspasrp trdpqdpsgr qgelspvedq regleaapkg psresvvhag
       61 qrrtsaytli apninrrnei qriaeqelan lekwkeqnra kpvhlvprrl ggsqsetevr
      121 qkqqlqlmqs kykqklkree svrikkeaee aelqkmkaiq reksnkleek krlqenlrre
      181 afrehqqykt aeflsklnte spdrsacqsa vcgpqsstwk lpilprdhsw arswayrdsl
      241 kaeenrklqk mkdeqhqkse llelkrqqqe qerakihqte hrrvnnafld rlqgksqpgg
      301 leqsggcwnm nsgnswgi
//
LOCUS       NP_001372107             958 aa            linear   PRI 18-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 36 isoform 3 [Homo sapiens].
ACCESSION   NP_001372107
VERSION     NP_001372107.1
DBSOURCE    REFSEQ: accession NM_001385178.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 958)
  AUTHORS   Zhang W, Luo J, Xiao Z, Zang Y, Li X, Zhou Y, Zhou J, Tian Z, Zhu J
            and Zhao X.
  TITLE     USP36 facilitates esophageal squamous carcinoma progression via
            stabilizing YAP
  JOURNAL   Cell Death Dis 13 (12), 1021 (2022)
   PUBMED   36470870
  REMARK    GeneRIF: USP36 facilitates esophageal squamous carcinoma
            progression via stabilizing YAP.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 958)
  AUTHORS   Ling H, Cao CH, Han K, Lv YR, Ma XD, Cao JH, Chen JW, Li S, Lin JL,
            Fang YJ, Pan ZZ, Xie D and Wang FW.
  TITLE     CEP63 upregulates YAP1 to promote colorectal cancer progression
            through stabilizing RNA binding protein FXR1
  JOURNAL   Oncogene 41 (39), 4433-4445 (2022)
   PUBMED   35989368
REFERENCE   3  (residues 1 to 958)
  AUTHORS   Zhou J, Zhou J, Wu LJ, Li YY, Li MQ and Liao HQ.
  TITLE     CircRNA circUSP36 impairs the stability of NEDD4L mRNA through
            recruiting PTBP1 to enhance ULK1-mediated autophagic granulosa cell
            death
  JOURNAL   J Reprod Immunol 153, 103681 (2022)
   PUBMED   35964538
  REMARK    GeneRIF: CircRNA circUSP36 impairs the stability of NEDD4L mRNA
            through recruiting PTBP1 to enhance ULK1-mediated autophagic
            granulosa cell death.
REFERENCE   4  (residues 1 to 958)
  AUTHORS   Wang D, Li Z, Li X, Yan C, Yang H, Zhuang T, Wang X, Zang Y, Liu Z,
            Wang T, Jiang R, Su P, Zhu J and Ding Y.
  TITLE     DUB1 suppresses Hippo signaling by modulating TAZ protein
            expression in gastric cancer
  JOURNAL   J Exp Clin Cancer Res 41 (1), 219 (2022)
   PUBMED   35820928
  REMARK    GeneRIF: DUB1 suppresses Hippo signaling by modulating TAZ protein
            expression in gastric cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 958)
  AUTHORS   Sun W, Shen J, Liu J, Han K, Liang L and Gao Y.
  TITLE     Gene Signature and Prognostic Value of Ubiquitin-Specific Proteases
            Members in Hepatocellular Carcinoma and Explored the Immunological
            Role of USP36
  JOURNAL   Front Biosci (Landmark Ed) 27 (6), 190 (2022)
   PUBMED   35748266
  REMARK    GeneRIF: Gene Signature and Prognostic Value of Ubiquitin-Specific
            Proteases Members in Hepatocellular Carcinoma and Explored the
            Immunological Role of USP36.
REFERENCE   6  (residues 1 to 958)
  AUTHORS   Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI and Mann
            M.
  TITLE     Nucleolar proteome dynamics
  JOURNAL   Nature 433 (7021), 77-83 (2005)
   PUBMED   15635413
REFERENCE   7  (residues 1 to 958)
  AUTHORS   Kim MS, Yoo KJ, Kang I, Chung HM and Baek KH.
  TITLE     A novel cysteine protease HeLa DUB-1 responsible for cleaving the
            ubiquitin in human ovarian cancer cells
  JOURNAL   Int J Oncol 25 (2), 373-379 (2004)
   PUBMED   15254734
  REMARK    GeneRIF: DUB-1 is present ubuquitously within cells and has
            deubiitinating enzyme activity in vivo and in vitro.
REFERENCE   8  (residues 1 to 958)
  AUTHORS   Quesada V, Diaz-Perales A, Gutierrez-Fernandez A, Garabaya C, Cal S
            and Lopez-Otin C.
  TITLE     Cloning and enzymatic analysis of 22 novel human ubiquitin-specific
            proteases
  JOURNAL   Biochem Biophys Res Commun 314 (1), 54-62 (2004)
   PUBMED   14715245
REFERENCE   9  (residues 1 to 958)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
REFERENCE   10 (residues 1 to 958)
  AUTHORS   Scherl A, Coute Y, Deon C, Calle A, Kindbeiter K, Sanchez JC, Greco
            A, Hochstrasser D and Diaz JJ.
  TITLE     Functional proteomic analysis of human nucleolus
  JOURNAL   Mol Biol Cell 13 (11), 4100-4109 (2002)
   PUBMED   12429849
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022966.13.
            
            Summary: This gene encodes a member of the peptidase C19 or
            ubiquitin-specific protease family of cysteine proteases. Members
            of this family remove ubiquitin molecules from polyubiquitinated
            proteins. The encoded protein may deubiquitinate and stabilize the
            transcription factor c-Myc, also known as MYC, an important
            oncoprotein known to be upregulated in most human cancers. The
            encoded protease may also regulate the activation of autophagy.
            This gene exhibits elevated expression in some breast and lung
            cancers. [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (11), as well as variant 10,
            encodes isoform 3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.2500197.1,
                                           SRR7346977.2411028.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..958
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..958
                     /product="ubiquitin carboxyl-terminal hydrolase 36 isoform
                     3"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin specific protease 36; ubiquitin
                     carboxyl-terminal hydrolase 36; ubiquitin thioesterase 36;
                     deubiquitinating enzyme 36; ubiquitin-specific-processing
                     protease 36"
                     /calculated_mol_wt=104565
     Region          1..256
                     /region_name="Peptidase_C19E"
                     /note="A subfamily of Peptidase C19. Peptidase C19
                     contains ubiquitinyl hydrolases. They are intracellular
                     peptidases that remove ubiquitin molecules from
                     polyubiquinated peptides by cleavage of isopeptide bonds.
                     They hydrolyze bonds involving the carboxyl...; cd02661"
                     /db_xref="CDD:239126"
     Region          <341..675
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..958
                     /gene="USP36"
                     /gene_synonym="DUB1"
                     /coded_by="NM_001385178.1:486..3362"
                     /note="isoform 3 is encoded by transcript variant 11"
                     /db_xref="GeneID:57602"
                     /db_xref="HGNC:HGNC:20062"
                     /db_xref="MIM:612543"
ORIGIN      
        1 mlcvmqnhiv qafansgnai kpvsfirdlk kiarhfrfgn qedaheflry tidamqkacl
       61 ngcakldrqt qattlvhqif ggylrsrvkc svcksvsdty dpyldvalei rqaanivral
      121 elfvkadvls genaymcakc kkkvpaskrf tihrtsnvlt lslkrfanfs ggkitkdvgy
      181 peflnirpym sqnngdpvmy glyavlvhsg yschaghyyc yvkasngqwy qmndslvhss
      241 nvkvvlnqqa yvlfylripg skkspeglis rtgssslpgr psvipdhskk nigngiissp
      301 ltgkrqdsgt mkkphtteei gvpisrngst lglksqngci ppklpsgsps pklsqtpthm
      361 ptilddpgkk vkkpappqhf sprtaqglpg tsnsnssrsg sqrqgswdsr dvvlstspkl
      421 latatanghg lkgndesagl drrgsssssp ehsassdstk apqtprsgaa hlcdsqetnc
      481 staghsktpp sgadsktvkl kspvlsnttt epastmsppp akklalsakk astlwratgn
      541 dlrppppsps sdlthpmkts hpvvastwpv hraravspap qsssrlqppf sphptllsst
      601 pkppgtsepr scssistalp qvnedlvslp hqlpeasepp qspsekrkkt fvgepqrlgs
      661 etrlpqhire ataaphgkrk rkkkkrpedt aasalqegqt qrqpgspmyr regqaqlpav
      721 rrqedgtqpq vngqqvgcvt dghhassrkr rrkgaeglge egglhqdplr hscspmgdgd
      781 peameesprk kkkkkrkqet qraveedghl kcprsakpqd avvpesssca psangwcpgd
      841 rmglsqappv swngeresdv vqellkyssd kaygrkvltw dgkmsavsqd aiedsrqart
      901 etvvddwdee fdrgkekkik kfkrekrrnf nafqklqtrr nfwsvthpak aaslsyrr
//
LOCUS       XP_047298749             120 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC389831 isoform X1 [Homo sapiens].
ACCESSION   XP_047298749
VERSION     XP_047298749.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442793.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_113901.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..120
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Unknown"
     Protein         1..120
                     /product="uncharacterized protein LOC389831 isoform X1"
                     /calculated_mol_wt=13360
     CDS             1..120
                     /gene="LOC389831"
                     /coded_by="XM_047442793.1:366..728"
                     /db_xref="GeneID:389831"
ORIGIN      
        1 mysfpttvve eilslslqli afptvsceil leitsqtnkk qtwetcyahs aeeigiiagk
       61 rihktqavpy icfllrhqfi sqsshvrvea lysllflgtl lqvgkgqevl lkdalrarap
//
LOCUS       XP_016856450             222 aa            linear   PRI 20-MAR-2023
DEFINITION  neuronal growth regulator 1 isoform X3 [Homo sapiens].
ACCESSION   XP_016856450
VERSION     XP_016856450.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017000961.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..222
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..222
                     /product="neuronal growth regulator 1 isoform X3"
                     /calculated_mol_wt=24310
     Region          47..135
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          56..60
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          68..72
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          101..105
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          115..120
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          128..131
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          138..207
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          156..160
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          169..173
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          186..190
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          200..205
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          214..217
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..222
                     /gene="NEGR1"
                     /gene_synonym="DMML2433; IGLON4; KILON; Ntra"
                     /coded_by="XM_017000961.3:46..714"
                     /db_xref="GeneID:257194"
                     /db_xref="HGNC:HGNC:17302"
                     /db_xref="MIM:613173"
ORIGIN      
        1 mdmmllvqga ccsnqwlaav llslccllps clpagqsvdf pwaavdnmmv rkgdtavlrc
       61 yledgaskga wlnrssiifa ggdkwsvdpr vsistlnkrd yslqiqnvdv tddgpytcsv
      121 qtqhtprtmq vhltvqvppk iydisndmtv negtnvtltc latgkpepsi swrhispsak
      181 pfengqyldi ygitrdqage yecsaendvs fpdvrkvkvv vn
//
LOCUS       XP_047279768             445 aa            linear   PRI 20-MAR-2023
DEFINITION  BSD domain-containing protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047279768
VERSION     XP_047279768.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423812.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..445
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..445
                     /product="BSD domain-containing protein 1 isoform X1"
                     /calculated_mol_wt=48499
     Region          165..215
                     /region_name="BSD"
                     /note="domain in transcription factors and
                     synapse-associated proteins; smart00751"
                     /db_xref="CDD:128990"
     CDS             1..445
                     /gene="BSDC1"
                     /coded_by="XM_047423812.1:28..1365"
                     /db_xref="GeneID:55108"
                     /db_xref="HGNC:HGNC:25501"
                     /db_xref="MIM:617518"
ORIGIN      
        1 maegedvgww rswlqqsyqa vkeksseale fmkrdlteft qvvqhdtact iaatasvvke
       61 klaiaacsrg acflcpfsiq tegssgatek mkkglsdflg visdtfapsp dktidcdvit
      121 lmgtpsgtae pydgtkarly slqsdpatyc nepdgppelf dawlsqfcle ekkgeisell
      181 vgspsiraly tkmvpaavsh sefwhryfyk vhqleqeqar rdalkqraeq siseepgwee
      241 eeeelmgisp ispkeakvpv akistfpege pgpqspceen lvtsveppae vtpsessesi
      301 slvtqianpa tapearvlpk dlsqklleas leeqglavdv getgpsppih skpltpaght
      361 ggpeprppar vetlreeapt dlrvfelnsd sgkstpsnng kketrsqftv dflwkisvtl
      421 leplgqsasp lfsnlpfprl khghq
//
LOCUS       XP_011517692             481 aa            linear   PRI 20-MAR-2023
DEFINITION  BEN domain-containing protein 7 isoform X7 [Homo sapiens].
ACCESSION   XP_011517692
VERSION     XP_011517692.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011519390.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..481
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..481
                     /product="BEN domain-containing protein 7 isoform X7"
                     /calculated_mol_wt=52650
     Region          271..352
                     /region_name="BEN"
                     /note="BEN domain; pfam10523"
                     /db_xref="CDD:431337"
     CDS             1..481
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /coded_by="XM_011519390.3:468..1913"
                     /db_xref="GeneID:222389"
                     /db_xref="HGNC:HGNC:23514"
ORIGIN      
        1 meikkqitgm rrllndstgr iyqrvgkege klkeepqdld lvwpprlnss aeapqslhps
       61 srgvwnelpp qsgqfsgqyg trsrtfqsqp hpttssngmv vnkhsegshg gelpvvnssa
      121 gsncctcncq stlqailqel ktmrklmqiq avgtqnrqqp pislicsqrt avsrkrnkkk
      181 kvppktvepl tvkqkpsgse mekksvvase lsalqaaeht speesrvlgf givlespssd
      241 pevqlaegfd vfmpksqlds ilsnytrsgs llfrklvcaf fddktlansl pngkrkrgln
      301 dnrkgldqni vgaikvftek yctanhvdkl pgprdwvqil qdqiklarrr lkrgsaeiad
      361 sderldgial pptgacggpc tvlpggsaav tlvlqsspqt msqekgqmae pweeqhlvll
      421 nnltrdraet galsqtsqdf khhsflitqv satlhhqrgi rnfptpgsak sltlhiscls
      481 l
//
LOCUS       XP_005252861             138 aa            linear   PRI 20-MAR-2023
DEFINITION  secretoglobin family 1C member 1 isoform X1 [Homo sapiens].
ACCESSION   XP_005252861
VERSION     XP_005252861.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005252804.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Mar 12, 2015 this sequence version replaced XP_005252861.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..138
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..138
                     /product="secretoglobin family 1C member 1 isoform X1"
                     /calculated_mol_wt=14912
     Region          44..136
                     /region_name="Uteroglobin"
                     /note="Uteroglobin family; pfam01099"
                     /db_xref="CDD:426048"
     Site            order(72..73,76,89,93,96,101..106,108..109,112,120,
                     122..124,126..127,130)
                     /site_type="other"
                     /note="Dimer interface [polypeptide binding]"
                     /db_xref="CDD:238346"
     Site            order(73,80,89,106,109,124,127..128)
                     /site_type="other"
                     /note="Hydrophobic pocket - steroid binding site [chemical
                     binding]"
                     /db_xref="CDD:238346"
     CDS             1..138
                     /gene="SCGB1C1"
                     /gene_synonym="RYD5"
                     /coded_by="XM_005252804.4:3..419"
                     /db_xref="GeneID:147199"
                     /db_xref="HGNC:HGNC:18394"
                     /db_xref="MIM:610176"
ORIGIN      
        1 magsqlfkts skkanpgcnq erccpvrhki pgfwleaape tagmkgsral llvaltlfci
       61 crmatgednd effmdflqtl lvgtpeelye gtlgkynvne dakaamtelk scidglqpmh
      121 kaelvkllvq vlgsqdga
//
LOCUS       XP_047283276             881 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Aster-B isoform X2 [Homo sapiens].
ACCESSION   XP_047283276
VERSION     XP_047283276.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427320.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..881
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..881
                     /product="protein Aster-B isoform X2"
                     /calculated_mol_wt=101299
     Region          235..328
                     /region_name="PH-GRAM_GRAMDC"
                     /note="GRAM domain-containing protein (GRAMDC) Pleckstrin
                     Homology-Glucosyltransferases, Rab-like GTPase activators
                     and Myotubularins (PH-GRAM) domain; cd13220"
                     /db_xref="CDD:275406"
     Region          503..651
                     /region_name="DUF4782"
                     /note="Domain of unknown function (DUF4782); pfam16016"
                     /db_xref="CDD:435072"
     CDS             1..881
                     /gene="GRAMD1B"
                     /gene_synonym="LINC01059"
                     /coded_by="XM_047427320.1:115..2760"
                     /db_xref="GeneID:57476"
                     /db_xref="HGNC:HGNC:29214"
                     /db_xref="MIM:620179"
ORIGIN      
        1 mvpepqgape gspvwsssst ptlrrrrfkm rrmknvqeqs leaglardlp avlapgkefl
       61 qlpsieitps sdedtpwsnc stpsasprrk rfllrkwlrv rerkecsess sqqssqqssh
      121 dddssrflsp rareestasn snrstpacsp ilrkrsrspt pqnqdgdtmv ekgsdhssdk
      181 spstpeqgvq rscssqsgrs ggknskksqs wynvlsptyk qrnedfrklf kqlpdterli
      241 vdyscalqrd illqgrlyls enwicfysni frwetlltvr lkdicsmtke ktarlipnai
      301 qvctdsekhf ftsfgardrt ymmmfrlwqn allekplcpk elwhfvhqcy gnelgltsdd
      361 edyvppdddf ntmgyceeip veenevndss skssietkpd aspqlpkksi tnstltstgs
      421 seapvsfdgl pleeealegd gslekelaid nimgekiemi apvnspsldf ndnediptel
      481 sdssdthdeg evqafyedls grqyvnevfn fsvdklydll ftnspfqrdf meqrrfsdii
      541 fhpwkkeeng nqsrvilyti tltnplapkt atvretqtmy kasqesecyv idaevlthdv
      601 pyhdyfytin rytltrvarn ksrlrvstel ryrkqpwglv ktfieknfws gledyfrhle
      661 selaktesty laemhrqspk ekasktttvr rrkrphahlr vphleevmsp vttptdedvg
      721 hrikhvagst qtrhipedtp ngfhlqsvsk lllviscvlv llvilnmmlf yklwmleytt
      781 qtltawqglr lqerlpqsqt ewaqllesqq kyhdtelqkw reiikssvml ldqvrcptfs
      841 acpglwergl lplccekdpr lyhhppdfsl qfilppghal f
//
LOCUS       XP_005253179             652 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 143 isoform X2 [Homo sapiens].
ACCESSION   XP_005253179
VERSION     XP_005253179.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005253122.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..652
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..652
                     /product="zinc finger protein 143 isoform X2"
                     /calculated_mol_wt=70599
     Region          253..275
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(260,262,264,266..267,270..271,274,290,292,296..297,
                     300..301,304,320,322,324,326..327,330..331,334)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          <265..438
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          283..305
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          313..335
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          343..365
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          373..395
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          403..425
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          433..452
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..652
                     /gene="ZNF143"
                     /gene_synonym="pHZ-1; SBF; STAF"
                     /coded_by="XM_005253122.2:24..1982"
                     /db_xref="GeneID:7702"
                     /db_xref="HGNC:HGNC:12928"
                     /db_xref="MIM:603433"
ORIGIN      
        1 mvvgrrncwk ifsekmllaq inrdsqgmte fpgggmeaqh vtlclteavt vadgdnlenm
       61 egvslqavtl adgstayiqh nskdaklidg qviqledgsa ayvqhvpipk srdslrledg
      121 qavqledgtt afihhtskds ydqsalqavq ledgttayih havqvpqsdt ilaiqadgtv
      181 aglhtgdati dpdtisaleq yaakvsidgs esvagtgmig eneqekkmqi vlqghatrvt
      241 aksqqsgeka frceydgcgk lyttahhlkv hershtgdrp yqcehagcgk afatgyglks
      301 hvrthtgekp yrcsednctk sfktsgdlqk hirthtgerp fkcpfegcgr sfttsnirkv
      361 hvrthtgerp yyctepgcgr afasatnykn hvrihtgekp yvctvpgcdk rfteysslyk
      421 hhvvhthskp yncnhcgkty kqistlamhk rtahndtepi eeeqeaffep ppgqgedvlk
      481 gsqityvtgv egddvvstqv atvtqsglsq qvtlisqdgt qhvnisqadm qaigntitmv
      541 tqdgtpitvp ahdavissag thsvamvtae gtegeqvaiv aqdlaafhta ssemghqqhs
      601 hhlvttetrp ltlvatsngt qiavqlgeqp sleeairias riqqgetpgl dd
//
LOCUS       XP_047283701             289 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 25 isoform X17 [Homo sapiens].
ACCESSION   XP_047283701
VERSION     XP_047283701.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427745.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..289
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..289
                     /product="transmembrane protein 25 isoform X17"
                     /calculated_mol_wt=30882
     Region          <22..86
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     CDS             1..289
                     /gene="TMEM25"
                     /coded_by="XM_047427745.1:71..940"
                     /db_xref="GeneID:84866"
                     /db_xref="HGNC:HGNC:25890"
                     /db_xref="MIM:613934"
ORIGIN      
        1 malppgpaal rhtllllpal lssggpgtpr lawyldgqlq eastsrllsv ggeafsggts
       61 tftvtahraq helncslqdp rsgrsanasv ilnvqfkpei aqvgakyqea qgpgllvvlf
      121 alvranppan vtwidqdgpv tvntsdflvl daqnypwltn htvqlqlrsl ahnlsvvatn
      181 dvgvtsaslp apgpsrhpsl issdsnnlkl nnvrlprenm slpsnlqlnd ltpdsrvkpa
      241 drqmaqnnsr pelldpepgg lltsqgfirl pvlgyiyrvs svssdeiwl
//
LOCUS       XP_011543627            1480 aa            linear   PRI 20-MAR-2023
DEFINITION  182 kDa tankyrase-1-binding protein isoform X2 [Homo sapiens].
ACCESSION   XP_011543627
VERSION     XP_011543627.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011545325.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1480
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1480
                     /product="182 kDa tankyrase-1-binding protein isoform X2"
                     /calculated_mol_wt=155419
     Region          <95..463
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <273..691
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     CDS             1..1480
                     /gene="TNKS1BP1"
                     /gene_synonym="TAB182"
                     /coded_by="XM_011545325.4:179..4621"
                     /db_xref="GeneID:85456"
                     /db_xref="HGNC:HGNC:19081"
                     /db_xref="MIM:607104"
ORIGIN      
        1 mkvstlress amasplprem eeelvptgse pgdtrakppv kpkpralpak palpakpsll
       61 vpvgprpprg plaelpsark mnmlagpqpy ggskrplpfa prpaveastg geatqetgke
      121 eagkeepppl tpparcaapg gvrkapapfr paserfaatt veeilakmeq prkevlaspd
      181 rlwgsrltfn hdgssrygpr tygtttaprd edgstlfrgw sqegpvkspa ecreehsktp
      241 eerslpsdla fngdlakaas selpadiskp wipsspapss enggpaspgl paeasgsgpg
      301 sphlhppdks spchsqllea qtpeasqasp cpavtpsaps aalpdegsrh tpspglpaeg
      361 apeaprpssp ppevlephsl dqppatsprp lievgelldl trtfpsggee eakgdahlrp
      421 tslvqrrfse gvlqspsqdq eklggslaal pqgqgsqlal drpfgaesnw slsqsfewtf
      481 ptrpsglgvw rldspppspi teaseaaeaa eagnlavssr eegvsqqgqg agsapsgsgs
      541 swvqgddpsm sltqkgdges qpqfpavple plpttegtpg lplqqaeery esqeplagqe
      601 splplatrea alpilepvlg qeqpaapdqp cvlfadapep gqalpveeea vtlaraettq
      661 arteaqdlcr aspeppgpes ssrwlddlla spppsgggar rgagaelkdt qspstcsegl
      721 lgwsqkdlqs efgitgdpqp ssfspsswcq gasqdyglgg asprgdpglg erdwtskygq
      781 gagegstrew asrcgigqee measssqdqs kvsapgvlta qdrvvgkpaq lgtqrsqead
      841 vqdwefrkrd sqgtyssrda elqdqefgkr dslgtyssrd vslgdwefgk rdslgayasq
      901 daneqgqdlg krdhhgryss qdadeqdwef qkrdvslgty gsraaepqeq efgksawird
      961 yssggssrtl daqdrsfgtr plssgfspee aqqqdeefek kipsvedslg egsrdagrpg
     1021 ergsgglfsp stahvpdgal gqrdqsswqn sdasqevggh qerqqagaqg pgsadledge
     1081 mgkrgwvgef slsvgpqrea afspgqqdws rdfcieaser syqfgiignd rvsgagfsps
     1141 skmegghfvp pgkttagsvd wtdqlglrnl evsscvgsgg ssearesavg qmgwsgglsl
     1201 rdmnltgcle sggseepggi gvgekdwtsd vnvkskdlae vgeggghsqa resgvgqtdw
     1261 sgveageflk srergvgqad wtpdlglrnm apgavcspge skelgvgqmd wgnnlglrdl
     1321 evtcdpdsgg sqglrgcgvg qmdwtqdlap qnvelfgaps earehgvggv sqcpepglrh
     1381 ngslspglea rdplearelg vgetsgpetq gedyssssle phpadpgmet gealsfgasd
     1441 svqleepelf pgegahprsq gfeparlaql ftcvlccsrp
//
LOCUS       XP_016875295             585 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein Eos isoform X1 [Homo sapiens].
ACCESSION   XP_016875295
VERSION     XP_016875295.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019806.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 8% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..585
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..585
                     /product="zinc finger protein Eos isoform X1"
                     /calculated_mol_wt=63975
     Region          161..181
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(166,168,170,172..173,176..177,180,194,196,200..201,
                     204..205,208,222,224,226,228..229,232..233,236)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          174..198
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          189..209
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          201..226
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          <211..271
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          217..237
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          250..271
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..585
                     /gene="IKZF4"
                     /gene_synonym="EOS; ZNFN1A4"
                     /coded_by="XM_017019806.2:766..2523"
                     /db_xref="GeneID:64375"
                     /db_xref="HGNC:HGNC:13179"
                     /db_xref="MIM:606239"
ORIGIN      
        1 mhtppalprr fqgggrvrtp gshrqgkdnl erdpsggcvp dflpqaqdsn hfimeslfce
       61 ssgdssleke flgapvgpsv stpnsqhssp srslsansik vemysdeess rllgpderll
      121 ekddsvived slseplgycd gsgpephspg girlpngklk cdvcgmvcig pnvlmvhkrs
      181 htgerpfhcn qcgasftqkg nllrhiklhs gekpfkcpfc nyacrrrdal tghlrthsvs
      241 sptvgkpykc nycgrsykqq stleehkerc hnylqslste aqalagqpgd eirdlemvpd
      301 smlhssserp tfidrlansl tkrkrstpqk fvgekqmrfs lsdlpydvns ggyekdvelv
      361 ahhslepgfg sslafvgaeh lrplrlpptn ciseltpvis svytqmqplp grlelpgsre
      421 agegpedlad ggpllyrprg pltdpgasps ngcqdstdte snhedrvagv vslpqgpppq
      481 ppptivvgrh spayakedpk pqegllrgtp gpskevlrvv gesgepvkaf kcehcrilfl
      541 dhvmftihmg chgfrdpfec nicgyhsqdr yefsshivrg ehkvg
//
LOCUS       XP_016877315             475 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of G-protein signaling 6 isoform X9 [Homo sapiens].
ACCESSION   XP_016877315
VERSION     XP_016877315.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017021826.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..475
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..475
                     /product="regulator of G-protein signaling 6 isoform X9"
                     /calculated_mol_wt=54823
     Region          31..119
                     /region_name="DEP_RGS7-like"
                     /note="DEP (Dishevelled, Egl-10, and Pleckstrin) domain
                     found in RGS (regulator of G-protein signaling) proteins
                     of the subfamily R7. This subgroup contains RGS7, RGS6,
                     RGS9 and RGS11. They share a common domain architecture,
                     containing, beside the RGS domain; cd04450"
                     /db_xref="CDD:239897"
     Region          116..217
                     /region_name="RGS_DHEX"
                     /note="Regulator of G-protein signalling DHEX domain;
                     pfam18148"
                     /db_xref="CDD:375589"
     Region          258..319
                     /region_name="GGL"
                     /note="G protein gamma subunit-like motifs; smart00224"
                     /db_xref="CDD:128520"
     Site            order(258,261,265,268,272,277,279,282..283,286..287,290,
                     299..300,309)
                     /site_type="other"
                     /note="beta subunit binding site [polypeptide binding]"
                     /db_xref="CDD:238024"
     Region          328..452
                     /region_name="RGS_RGS6"
                     /note="Regulator of G protein signaling (RGS) domain found
                     in the RGS6 protein; cd08737"
                     /db_xref="CDD:188691"
     Site            order(342,373..377,418..420,423,430,434)
                     /site_type="other"
                     /note="G-beta-5 interaction site"
                     /db_xref="CDD:188691"
     Site            order(357..359,361..362,395..397,399..401,403..405,428,
                     431..432,434..436,440)
                     /site_type="other"
                     /note="G-alpha interaction site"
                     /db_xref="CDD:188691"
     CDS             1..475
                     /gene="RGS6"
                     /gene_synonym="GAP; HA117; S914"
                     /coded_by="XM_017021826.3:534..1961"
                     /db_xref="GeneID:9628"
                     /db_xref="HGNC:HGNC:10002"
                     /db_xref="MIM:603894"
ORIGIN      
        1 maqgsgdqra vgvadpeess pnmivyckie diitkmqddk tggvpirtvk sflskipsvv
       61 tgtdivqwlm knlsiedpve aihlgsliaa qgyifpisdh vltmkddgtf yrfqapyfwp
      121 sncwepentd yaiylckrtm qnkarlelad yeaenlarlq rafarkwefi fmqaeaqvki
      181 drkkdkterk ildsqerafw dvhrpvpgcv nttemdirkc rrlknpqkvk ksvygvtees
      241 qaqspvhvls qpirkttked irkqitflna qidrhclkms kvaesliayt eqyveydpli
      301 tpaepsnpwi sddvalwdie mskepsqqrv krwgfsfdei lkdqvgrdqf lrflesefss
      361 enlrfwlavq dlkkqplqdv akrveeiwqe flapgapsai nldshsyeit sqnvkdggry
      421 tfedaqehiy klmksdsyar flrsnayqdl llakkkpese qgrrtslekf trsvg
//
LOCUS       XP_011519656             536 aa            linear   PRI 20-MAR-2023
DEFINITION  protein 4.2 isoform X5 [Homo sapiens].
ACCESSION   XP_011519656
VERSION     XP_011519656.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521354.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..536
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..536
                     /product="protein 4.2 isoform X5"
                     /calculated_mol_wt=59357
     Region          106..197
                     /region_name="TGc"
                     /note="Transglutaminase/protease-like homologues;
                     smart00460"
                     /db_xref="CDD:214673"
     Region          320..425
                     /region_name="Transglut_C"
                     /note="Transglutaminase family, C-terminal ig like domain;
                     pfam00927"
                     /db_xref="CDD:395741"
     Region          433..531
                     /region_name="Transglut_C"
                     /note="Transglutaminase family, C-terminal ig like domain;
                     pfam00927"
                     /db_xref="CDD:395741"
     CDS             1..536
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /coded_by="XM_011521354.2:170..1780"
                     /db_xref="GeneID:2038"
                     /db_xref="HGNC:HGNC:3381"
                     /db_xref="MIM:177070"
ORIGIN      
        1 meyllnqngl iylgtadciq aeswdfgqfe gdvidlslrl lskdkqvekw sqpvhvarvl
       61 gallhflkeq rvlptpqtqa tqegallnkr rgsvpilrqw ltgrgrpvyd gqawvlaava
      121 ctvlrclgip arvvttfasa qgtggrllid eyyneeglqn gegqrgriwi fqtstecwmt
      181 rpalpqgydg wqilhpsapn gggvlgscdl vpvravkegt lgltpavsdl faainascvv
      241 wkccedgtle ltdsntkyvg nnistkgvgs drceditqny kypegslqek evlervekek
      301 merekdngir ppsletaspl ylllkapssl plrgdaqisv tlvnhseqek avqlaigvqa
      361 vhyngvlaak lwrkklhltl sanlekiiti glffsnfern ppentflrlt amathsesnl
      421 scfaqediai crphlaikmp ekaeqyqplt asvslqnsld apmedcvisi lgrglihrer
      481 syrfrsvwpe ntmcakfqft pthvglqrlt vevdcnmfqn ltnyksvtvv apelsa
//
LOCUS       XP_047292751            2003 aa            linear   PRI 20-MAR-2023
DEFINITION  myosin XVB isoform X19 [Homo sapiens].
ACCESSION   XP_047292751
VERSION     XP_047292751.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436795.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2003
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..2003
                     /product="myosin XVB isoform X19"
                     /calculated_mol_wt=217293
     Region          13..>312
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          516..1164
                     /region_name="MYSc_Myo35"
                     /note="class XXXV myosin, motor domain; cd14896"
                     /db_xref="CDD:276861"
     Site            order(543..551,595..600,606..607,645..655,876..881)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276861"
     Site            543..551
                     /site_type="other"
                     /note="purine-binding loop"
                     /db_xref="CDD:276861"
     Site            order(595..600,606..607)
                     /site_type="other"
                     /note="P-loop"
                     /db_xref="CDD:276861"
     Site            645..655
                     /site_type="other"
                     /note="switch I region"
                     /db_xref="CDD:276861"
     Site            876..881
                     /site_type="other"
                     /note="switch II region"
                     /db_xref="CDD:276861"
     Site            order(905..916,919..928)
                     /site_type="active"
                     /note="relay loop [active]"
                     /db_xref="CDD:276861"
     Site            1097..1106
                     /site_type="other"
                     /note="SH1 helix"
                     /db_xref="CDD:276861"
     Site            order(1109..1126,1134..1164)
                     /site_type="other"
                     /note="converter subdomain"
                     /db_xref="CDD:276861"
     Region          1380..1482
                     /region_name="MyTH4"
                     /note="MyTH4 domain; pfam00784"
                     /db_xref="CDD:425869"
     CDS             1..2003
                     /gene="MYO15B"
                     /gene_synonym="MYO15BP"
                     /coded_by="XM_047436795.1:259..6270"
                     /db_xref="GeneID:80022"
                     /db_xref="HGNC:HGNC:14083"
ORIGIN      
        1 mgrnqrkapq rlerpgrpas geqesgsasa dgapsrerrs drgqadrakp aaepataggq
       61 gtpggrrkpt aegnggcrrp gaglspkaqe rqsnaqrqgr gprggrggrl eegslsggee
      121 lggrrrrkrk dkgpsarrgr rtprslngdt sggdggsscp dsetreaqes gsqrgtarel
      181 rptpeptdmg segtktgpes alepssdgld sdwphadtrg regssgtgpl gasehsggds
      241 dssplgtgpg rgsraamasr tfedssrapr dtgpakdasd nraqrgaepe tmqastarap
      301 rhqvptspvp gdpfdqedet pdpkfavvfp rihragrass srsseeasad aptgegrgwp
      361 ragvgghseg crtsgegvsg lrrgsllapt apdgpsldes gssseaelet lndeppvrwa
      421 qgsgphegpr lgaavllprl sletrlqqeg dpglrgslre lwepededea vlerdlelsl
      481 rpgleappfp gakgrslgdg ledmedlarl rlvcdssvll clkkrfhlgr iytfggpvll
      541 vlnphrslpl fspevqasyh prkalsttph ifaivasayd laqntgqdpc illcsshcsg
      601 hsgsgkteaa kkimqflssl eqdqtgnrec qvedmlpils sfghaktiln anasrfgqvf
      661 clylqqgviv gasvshylle tsrvvfqaqa ersfhvfykl lagldsiere rlslqgpety
      721 yylnqgqacr lqgkedaqdf egllkalqgl glcpeelnav wavlaailql gnicfssser
      781 esqevaavss waeihtaarl lrvppecleg avtrrvtetp ygqvsrslpv esafdardal
      841 akalysrlfh rllrrtnarl appgeggsig tvtvvdaygf ealrvngleq lcnnlaserl
      901 qlfssqmlla qeeeecrrel lswvpvpqpp rescldllvd qphsllsild aqtwlsqatd
      961 htflqkshyh hgdhpsyakp rlplpvftvr hyagtvtyqv hkflnrnrdq ldpavvemlg
     1021 qsqlqlvgsl fqeaepqsrg grgrptlasr fqqaledlia rlgrshvyfi qcltpnpgkl
     1081 pglfdvghvt eqlhqaaile avgtrsanfp vrvpfeafla sfqalgsegq edlsdrekcg
     1141 avlsqvlgae splyhlgatk vllqeqgwqr leelrdqqrs qalvdlhrsf htcisrqrvl
     1201 prmqarmrgf qarkrylrrr aalgqlntil lvaqpllqrr qrlqlgrwqg whsseraler
     1261 vpsmelgrle ipaelavmlk taeshrdala gsiteclppe vparpsltlp adidlfpfss
     1321 fvaigfqeps lprpgqplak pltqldgdnp qraldinkvm lrllgdgsle swqrqimgay
     1381 lvrqgqcrpg lrnelfsqlv aqlwqnpdeq qsqrgwalma vllsafpplp vlqkpllkfv
     1441 sdqaprgmaa lcqhkllgal eqsqlasgat rahpptqlew lagwrrgrma ldvftfseec
     1501 ysaeveswtt geqlagwilq srgleapprg wsvslhsrda wqdlagcdfv ldlisqtedl
     1561 gdparprsyp itplgsaeai plapgiqaps lppgpppgpa ptlpsrdhtg evqrsgsldg
     1621 fldqifqpvi ssglsdleqs walssrmkgg gaigptqqgy pmvypgmiqm payqpgmvpa
     1681 pmpmmpamgt vpampamvvp pqpplpslda gqlavqqqnf iqqqalilaq qmtaqamsls
     1741 leqqmqqrqq qaraseaasq aspsavtskp rkpptppekp qrdlgseggc lretseeaed
     1801 rpyqpksfqq krnyfqrmgq pqitvrtmkp pakvhipqge aqeeeeeeee eeeqeeqeve
     1861 travpspppp pivkkplkqg gakapkeaea epaketaakg hgqgpaqgrg tvvrssdskp
     1921 krpqpsreig niirmyqsrp gpvpvpvqps sfpeenrpqg rgsgqagyqr cplvpadavp
     1981 qprkgppasc gsstqgpata wal
//
LOCUS       XP_016882994              70 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8
            isoform X1 [Homo sapiens].
ACCESSION   XP_016882994
VERSION     XP_016882994.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027505.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..70
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..70
                     /product="guanine nucleotide-binding protein
                     G(I)/G(S)/G(O) subunit gamma-8 isoform X1"
                     /calculated_mol_wt=7710
     Region          8..70
                     /region_name="GGL"
                     /note="G protein gamma subunit-like motifs; smart00224"
                     /db_xref="CDD:128520"
     Site            order(8,11,15,18,22,27,29,32..33,36..37,40,49..50,60)
                     /site_type="other"
                     /note="beta subunit binding site [polypeptide binding]"
                     /db_xref="CDD:238024"
     CDS             1..70
                     /gene="GNG8"
                     /gene_synonym="HG3E"
                     /coded_by="XM_017027505.1:94..306"
                     /db_xref="GeneID:94235"
                     /db_xref="HGNC:HGNC:19664"
ORIGIN      
        1 msnnmakiae arktveqlkl evnidrmkvs qaaaellafc ethakddplv tpvpaaenpf
       61 rdkrlfcvll
//
LOCUS       XP_047296191             405 aa            linear   PRI 20-MAR-2023
DEFINITION  uridine-cytidine kinase-like 1 isoform X14 [Homo sapiens].
ACCESSION   XP_047296191
VERSION     XP_047296191.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440235.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..405
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..405
                     /product="uridine-cytidine kinase-like 1 isoform X14"
                     /calculated_mol_wt=44448
     Region          101..307
                     /region_name="UMPK"
                     /note="Uridine monophosphate kinase (UMPK, EC 2.7.1.48),
                     also known as uridine kinase or uridine-cytidine kinase
                     (UCK), catalyzes the reversible phosphoryl transfer from
                     ATP to uridine or cytidine to yield UMP or CMP. In the
                     primidine nucleotide-salvage pathway; cd02023"
                     /db_xref="CDD:238981"
     Site            order(112,244,292)
                     /site_type="other"
                     /note="ATP-binding site [chemical binding]"
                     /db_xref="CDD:238981"
     Site            order(133,165,245)
                     /site_type="active"
                     /note="Sugar specificity [active]"
                     /db_xref="CDD:238981"
     Site            order(136,162,191,193,196,253)
                     /site_type="active"
                     /note="Pyrimidine base specificity [active]"
                     /db_xref="CDD:238981"
     CDS             1..405
                     /gene="UCKL1"
                     /gene_synonym="UCK1L; URKL1"
                     /coded_by="XM_047440235.1:45..1262"
                     /db_xref="GeneID:54963"
                     /db_xref="HGNC:HGNC:15938"
                     /db_xref="MIM:610866"
ORIGIN      
        1 maapparada dpsptsppta rdtpgrqaek setacedrsn aesldrllpp vgtgrsprkr
       61 ttsqcksepp llrtskrtiy tagrppwyne hgtqskeafa iglgggsasg kttvarmiie
      121 aldvpwvvll smdsfykllh slphqvlteq qqeqaahnnf nfdhpdafdf dliistlkkl
      181 kqgksvkvpi ydftthsrkk dwktlyganv iifegimafa dktllelldm kifvdtdsdi
      241 rlvrrlrrdi sergrdiegv ikqynkfvkp sfdqyiqptm rladivvprg sgntvaidli
      301 vqhvhsqlee gcaglgtpvp paapdaerpe ehaagtghah hhqgqgdqsr rvhlllqetd
      361 aaahrarall palsglrrtd pagaglcgqv lcgeadhrcv hsarr
//
LOCUS       XP_016883445             320 aa            linear   PRI 20-MAR-2023
DEFINITION  NSFL1 cofactor p47 isoform X5 [Homo sapiens].
ACCESSION   XP_016883445
VERSION     XP_016883445.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027956.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..320
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..320
                     /product="NSFL1 cofactor p47 isoform X5"
                     /calculated_mol_wt=35043
     Region          128..220
                     /region_name="SEP"
                     /note="Domain present in Saccharomyces cerevisiae Shp1,
                     Drosophila melanogaster eyes closed gene (eyc), and
                     vertebrate p47; smart00553"
                     /db_xref="CDD:197786"
     Region          239..320
                     /region_name="UBX_UBXN2C"
                     /note="Ubiquitin regulatory domain X (UBX) found in NSFL1
                     cofactor (also known as UBX domain-containing protein 2C
                     (UBXN2C) and similar proteins; cd17162"
                     /db_xref="CDD:340682"
     Site            order(247,249,251..252,255..256,258,292..293,295,311..314,
                     316,318)
                     /site_type="other"
                     /note="UBX-p97 interaction site [polypeptide binding]"
                     /db_xref="CDD:340682"
     CDS             1..320
                     /gene="NSFL1C"
                     /gene_synonym="dJ776F14.1; P47; UBX1; UBXD10; UBXN2C"
                     /coded_by="XM_017027956.2:2358..3320"
                     /db_xref="GeneID:55968"
                     /db_xref="HGNC:HGNC:15912"
                     /db_xref="MIM:606610"
ORIGIN      
        1 mlppcqhlpp lyagssksdn rvtsfrdlih dqdedeeeee gqrfyaggse rsgqqivgpp
       61 rkkspnelvd dlfkgakehg avavervtks pgetskprpf agggyrlgaa peeesayvag
      121 ekrqhssqdv hvvlklwksg fsldngelrs yqdpsnaqfl esirrgevpa elrrlahggq
      181 vnldmedhrd edfvkpkgaf kaftgegqkl gstapqvlst sspaqqaene akasssilid
      241 esepttniqi rladggrlvq kfnhshrisd irlfivdarp amaatsfilm ttfpnkelad
      301 esqtlkeanl lnavivqrlt
//
LOCUS       XP_047304977             456 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 70 kDa isoform X8 [Homo sapiens].
ACCESSION   XP_047304977
VERSION     XP_047304977.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449021.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..456
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..456
                     /product="centrosomal protein of 70 kDa isoform X8"
                     /calculated_mol_wt=52610
     CDS             1..456
                     /gene="CEP70"
                     /gene_synonym="BITE"
                     /coded_by="XM_047449021.1:231..1601"
                     /db_xref="GeneID:80321"
                     /db_xref="HGNC:HGNC:29972"
                     /db_xref="MIM:614310"
ORIGIN      
        1 mevcrlkkee edrivtqnrv faylckrvph tvldrqllcl idyyeskirk ihtqrqyked
       61 esqseeendy rnldasptyk gllmslqnql keskskidal sseklnlqkd letrptqhel
      121 rlykqqvkkl ekalkknvkl qelinhkkae dtekkdepsk ynqqqalidq ryfqvlcsin
      181 siihnprapv iiykqtkggv qnfnkdlvqd cgfehlvpvi emwadqltsl kdlykslktl
      241 saelvpwlnl kkqdenegik vedllfivdt mleevenkek dsnmphfqtl qaivshfqkl
      301 fdvpslngvy prmnevytrl gemnnavrnl qelleldsss slcvlvstvg klcrlinedv
      361 neqvmqvlgp edlqsiiykl eeheeffpaf qaftndllei lgkisggdge ilslkmsvhl
      421 rkgcslvtgl vflpsgwkpl tvlethslqa vrvcld
//
LOCUS       XP_006715483            8795 aa            linear   PRI 20-MAR-2023
DEFINITION  nesprin-1 isoform X20 [Homo sapiens].
ACCESSION   XP_006715483
VERSION     XP_006715483.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006715420.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8795
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..8795
                     /product="nesprin-1 isoform X20"
                     /calculated_mol_wt=1011146
     Region          24..143
                     /region_name="CH_SYNE1_rpt1"
                     /note="first calponin homology (CH) domain found in
                     synaptic nuclear envelope protein 1 and similar proteins;
                     cd21241"
                     /db_xref="CDD:409090"
     Site            order(29,33,87,89..90,93..94,96,112..120,125,127..128,
                     130..131,134..135,138)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409090"
     Region          182..290
                     /region_name="CH_SYNE1_rpt2"
                     /note="second calponin homology (CH) domain found in
                     synaptic nuclear envelope protein 1 (SYNE-1) and similar
                     proteins; cd21243"
                     /db_xref="CDD:409092"
     Site            order(187,191,241,243..244,247..248,250,259..267,274,
                     276..277,279..280,283..284,287)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409092"
     Region          <1249..1543
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          1423..2152
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          2340..3123
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          2417..2622
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            2521..2526
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          3072..3283
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            3178..3183
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          3184..3395
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            order(3285..3289,3291)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          3397..3602
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Site            3497..3502
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          3824..4042
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            3927..3932
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          4148..4344
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Region          4164..>4998
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Site            4242..4247
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          4273..4459
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Site            4353..4358
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          4970..5805
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          5742..6594
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          5924..6145
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Site            order(6031..6032,6043..6046)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          6757..6979
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Site            6867..6872
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          6875..7086
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            6981..6986
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          6995..7193
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            7089..7094
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          7122..7310
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Site            7198..7203
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          7314..7516
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            7415..7420
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          7418..7629
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            7522..7527
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          7742..7957
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            7844..7849
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          7961..8171
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            8067..8072
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          8425..8658
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            8532..8537
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          <8763..8794
                     /region_name="KASH"
                     /note="Nuclear envelope localization domain; pfam10541"
                     /db_xref="CDD:431347"
     CDS             1..8795
                     /gene="SYNE1"
                     /gene_synonym="8B; AMC3; AMCM; ARCA1; C6orf98; CPG2;
                     dJ45H2.2; EDMD4; KASH1; MYNE1; Nesp1; SCAR8"
                     /coded_by="XM_006715420.3:477..26864"
                     /db_xref="GeneID:23345"
                     /db_xref="HGNC:HGNC:17089"
                     /db_xref="MIM:608441"
ORIGIN      
        1 matsrgasrc prdianvmqr lqdeqeivqk rtftkwinsh lakrkppmvv ddlfedmkdg
       61 vkllallevl sgqklpceqg rrmkrihava nigtalkfle grksmhrgsp iklvninstd
      121 iadgrpsivl glmwtiilyf qieeltsnlp qlqslsssas svdsivsset psppskrkvt
      181 tkiqgnakka llkwvqytag kqtgievkdf gkswrsgvaf hsvihairpe lvdletvkgr
      241 snrenledaf tiaetelgip rlldpedvdv dkpdeksimt yvaqflkhyp dihnastdgq
      301 eddeilpgfp sfansvqnfk redrvifkem kvwieqferd ltraqmvesn lqdkyqsfkh
      361 frvqyemkrk qiehliqplh rdgklsldqa lvkqswdrvt srlfdwhiql dkslpaplgt
      421 igawlyraev alreeitvqq vheetantiq rkleqhkdll qntdahkraf heiyrtrsvn
      481 gipvppdqle dmaerfhfvs stselhlmkm eflelkyrll sllvlaeskl kswiikygrr
      541 esveqllqny vsfienskff eqyevtyqil kqtaemyvka dgsveeaenv mkfmnettaq
      601 wrnlsvevrs vrsmleevis nwdrygntva slqawledae kmlnqsenak kdffrnlphw
      661 iqqhtamnda gnflietcde mvsrdlkqql lllngrwrel fmevkqyaqa demdrmkkey
      721 tdcvvtlsaf ateahkklse plevsfmnvk lliqdledie qrvpvmdaqy kiitktahli
      781 tkespqeegk emfatmsklk eqltkvkecy spllyesqql lipleelekq mtsfydslgk
      841 ineiitvler eaqssalfkq khqellacqe nckktltlie kgsqsvqkfv tlsnvlkhfd
      901 qtrlqrqiad ihvafqsmvk ktgdwkkhve tnsrlmkkfe esraelekvl riaqegleek
      961 gdpeellrrh teffsqldqr vlnaflkacd eltdilpeqe qqglqeavrk lhkqwkdlqg
     1021 eapyhllhlk idveknrfla sveecrteld retklmpqeg sekiikehrv ffsdkgphhl
     1081 cekrlqliee lcvklpvrdp vrdtpgtchv tlkelraaid styrklmedp dkwkdytsrf
     1141 sefsswistn etqlkgikge aidtanhgev kraveeirng vtkrgetlsw lksrlkvlte
     1201 vsseneaqkq gdelaklsss fkalvtllse vekmlsnfgd cvqykeivkn sleelisgsk
     1261 evqeqaekil dtenlfeaqq lllhhqqktk risakkrdvq qqiaqaqqge gglpdrghee
     1321 lrklestldg lersrerqer riqvtlrkwe rfetnketvv rylfqtgssh erflsfssle
     1381 slsseleqtk efskrtesia vqaenlvkea seiplgpqnk qllqqqaksi keqvkkledt
     1441 leediktmem vktkwdhfgs nfetlsvwit ekekelnale tsssamdmqi sqikvtiqei
     1501 esklssivgl eeeaqsfaqf vttgesarik akltqirryg eelrehaqcl egtilghlsq
     1561 qqkfeenlrk iqqsvsefed klavpikics satetykvlq ehmdlcqale slssaitafs
     1621 asarkvvnrd scvqeaaalq qqyedilrra kerqtalenl lahwqrleke lssfltwler
     1681 geakasspem disadrvkve gelqliqalq nevvsqasfy skllqlkesl fsvaskddvk
     1741 mmklhleqld erwrdlpqii nkrinflqsv vaehqqfdel llsfsvwikl flselqttse
     1801 isimdhqval trhkdhaaev eskkgelqsl qghlaklgsl graedlhllq gkaedcfqlf
     1861 eeasqvverr qlalshlaef lqshaslsgi lrqlrqtvea tnsmnknesd liekdlndal
     1921 qnakalesaa vsldgilska qyhlkigsse qrtscratad qlcgeveriq nllgtkqsea
     1981 dalavlkkaf qdqkeellks iedieertdk erlkeptrqa lqqrlrvfnq ledelnsheh
     2041 elcwlkdkak qiaqkdvafa pevdreinrl evtwddtkrl ihenqgqccg lidlmreyqn
     2101 lksavskvle nassvivtrt tikdqedlkw afskhetakn kmnykqkdld nftskgkhll
     2161 selkkihssd fslvktdmes tvdkwldvse kleenmdrlr vslsiwddvl strdeiegws
     2221 nncvpqmaen isnldnhlra eellkefese vknkalrlee lhskvndlke ltknletppd
     2281 lqfieadlmq klehakeite vakgtlkdft aqstqvekfi ndittwftkv eeslmncaqn
     2341 etcealkkvk diqkelqsqq snisstqenl nslcrkyhsa eleslgramt glikkheavs
     2401 qlcsktqasl qeslekhfse smqefqewfl gakaaakess drtgdskvle aklhdlqnil
     2461 dsvsdgqskl davtqegqtl yahlskqivs siqeqitkan eefqaflkqc lkdkqalqdc
     2521 aselgsfedq hrklnlwihe meerfntenl geskqhipek knevhkvemf lgellaares
     2581 ldklsqrgql lseeghgagq egrlcsqllt shqnllrmtk eklrscqval qehealeeal
     2641 qsmwfwvkai qdrlacaest lgskdtlekr lsqiqdillm kgegevklnm aigkgeqalr
     2701 ssnkegqrvi qtqletlkev wadimsssvh aqstlesvis qwndyverkn qleqwmesvd
     2761 qkiehplqpq pglkekfvll dhlqsilsea edhtralhrl iaksrelyek tedesfkdta
     2821 qeelktqfnd imtvakekmr kveeivkdhl myldavheft dwlhsakeel hrwsdmsgds
     2881 satqkklski kelidsreig asrlsrvesl apevkqntta sgcelmhtem qalradwkqw
     2941 edsvfqtqsc lenlvsqmal seqefsgqva qleqaleqfs allktwaqql tllegkntde
     3001 eivecwhkgq eildalqkae prtedlksql nelcrfsrdl stysgkvsgl ikeynclclq
     3061 askgcqnkeq ilqqrfrkaf rdfqqwlvna kittakcfdi pqnisevsts lqkiqeflse
     3121 sengqhklnm mlskgellst lltkekakgi qakvtaaked wknfhsnlhq kesalenlki
     3181 qmkdfevsae piqdwlskte kmvhessnrl ydlpakrreq qklqsvleei hcyepqlnrl
     3241 kekaqqlweg qaasksfrhr vsqlssqyla lsnltkekvs rldrivaehn qfslgikelq
     3301 dwmtdaihml dsychptsdk svldsrtlkl eallsvkqek eiqmkmivtr gesvlqntsp
     3361 egiptiqqql qsvkdmwasl lsagircksq legalskwts yqdgvrqfsg wmdsmeanln
     3421 eserqhaelr dkttmlgkak llneevlsys slletievkg agmtehyvtq lelqdlqery
     3481 raiqerakea vtkseklvrl hqeyqrdlka fevwlgqeqe kldqysvleg dahthettlr
     3541 dlqelqvhca egqallnsvl htredvipsg ipqaedrale slrqdwqayq hrlsetrtqf
     3601 nnvvnklrlm eqkfqqvdew lktaeekvsp rtrrqsnrat keiqlhqmkk wheevtayrd
     3661 eveevgaraq eildeshvns rmgcqatqlt sryqalllqv leqikfleee iqsleesess
     3721 lssysdwygs thknfknvat kidkvdtvmm gkklktlevl lkdmekghsl lksarekger
     3781 avkyleegea erlrkeihdh meqlkeltst vrkehmtlek glhlakefsd kckaltqwia
     3841 eyqeilhvpe epkmelyekk aqlskykslq qtvlshepsv ksvrekgeal lelvqdvtlk
     3901 dkidqlqsdy qdlcsigkeh vfsleakvkd hedynselqe vekwllqmsg rlvapdllet
     3961 ssletitqql ahhkammeei agfedrlnnl qmkgdtligq cadhlqaklk qnvhahlqgt
     4021 kdsysaicst aqrmyqsleh elqkhvsrqd tlqqcqawls avqpdlepsp qpplsraeai
     4081 kqvkhfralq eqartyldll csmcdlsnas vkttakdiqq teqtieqklv qaqnltqgwe
     4141 eikhlkselw iylqdadqql qnmkrrhsel elniaqnmvs qvkdfvkklq skqasvntii
     4201 ekvnkltkke espehkeinh lndqwldlcr qsnnlclqre edlqrtrdyh dcmnvvevfl
     4261 ekfttewdnl arsdaestav hlealkklal alqerkyaie dlkdqkqkmi ehlnlddkel
     4321 vkeqtshleq rwfqledlik rkiqvsvtnl eelnvvqsrf qelmewaeeq qpniaealkq
     4381 spppdmaqnl lmdhlaicse leakqmllks likdadrvma dlglnerqvi qkalsdaqsh
     4441 vnclsdlvgq rrkylnkals ektqflmavf qatsqiqqhe rkimfrehic llpddvskqv
     4501 ktcksaqasl ktyqnevtgl waqgrelmke vteqeksevl gklqelqsvy dsvlqkcshr
     4561 lqeleknlvs rkhfkedfdk achwlkqadi vtfpeinlmn esselhtqla kyqnileqsp
     4621 eyenllltlq rtgqtilpsl nevdhsylse klnalprqfn vivalakdkf ykvqeailar
     4681 keyaslielt tqslseleaq flrmskvptd laveealslq dgcraildev aglgeavdel
     4741 nqkkegfrst gqpwqpdkml hlvtlyhrlk rqteqrvsll edttsayqeh ekmcqqlerq
     4801 lksvkeeqsk vneetlpaee klkmyhslag slqdsgivlk rvtihledla phldplayek
     4861 arhqiqswqg elklltsaig etvtecesrm vqsidfqtem srsldwlrrv kaelsgpvyl
     4921 dlnlqdiqee irkiqihqee vqsslrimna lshkekekft kakelisadl ehslaelsel
     4981 dgdiqealrt rqatlteiys qcqryyqvfq aandwledaq ellqlagngl dvesaeenlk
     5041 shmeffsted qfhsnleelh slvatldpli kptgkedleq kvaslelrsq rmsrdsgaqv
     5101 dllqrctaqw hdyqkareev ielmndtekk lsefsllkts ssheaeekls ehkalvsvvn
     5161 sfhekivale ekasqlektg ndaskatlsr smttvwqrwt rlravaqdqe kiledavdew
     5221 tgfnnkvkka temidqlqdk lpgssaekas kaelltlley hdtfvleleq qqsalgmlrq
     5281 qtlsmlqdga aptpgeeppl mqeitamqdr clnmqekvkt ngklvkqelk dremvetqin
     5341 svkcwvqetk eylgnptiei daqleelqil lteatnhrqn iekmaeeqke kylglytilp
     5401 selslqlaev aldlkirdqi qdkikeveqs katsqelsrq iqklakdltt iltklkaktd
     5461 nvvqaktdqk vlgeeldgcn sklmeldaav qkfleqngql gkplakkigk ltelhqqtir
     5521 qaenrlskln qaashleeyn emlelilkwi ekakvlahgt iawnsasqlr eqyilhqtll
     5581 eeskeidsel eamteklqyl tsvyctekms qqvaelgret eelrqmikir lqnlqdaakd
     5641 mkkfeaelkk lqaaleqaqa tltspevgrl slkeqlshrq hllsemeslk pkvqavqlcq
     5701 salripedvv aslplchaal rlqeeasrlq htaiqqcnim qeavvqyeqy eqemkhlqql
     5761 iegahreied kpvatsniqe lqaqisrhee laqkikgyqe qiaslnskck mltmkakhat
     5821 mlltvteveg laegtedldg ellptpsahp svvmdiayyq alsaerlqtd aakihpstsa
     5881 sqefyepgle psataklgdl qrswetlknv isekqrtlye alerqqkyqd slqsistkme
     5941 aielklsesp epgrspesqm aehqalmdei lmlqdeinel qsslaeelvs esceadpaeq
     6001 lalqstltvl aermstirmk asgkrqllee klndqleeqr qeqalqryrc eadeldswll
     6061 stkatldtal sppkepmdme aqlmdcqnml veieqkvval selsvhnenl llegkahtkd
     6121 eaeqlagklr rlkgsllelq ralhdkqlnm qqgtaqekee sdvdltatqs pgvqewlaqa
     6181 rttwtqqrqs slqqqkeleq elaeqksllr svasrgeeil iqhsaaetsg dagekpdvls
     6241 qelgmegeks saedqmrmkw eslhqefstk qkllqnvleq eqeqvlysrp nrllsgvply
     6301 kgdvptqdks avtslldgln qafeevssqs ggakrqsihl eqklydgvsa tstwlddvee
     6361 rlfvatallp eetetclfnq eilakdikem seemdknknl fsqafpengd nrdviedtlg
     6421 cllgrlslld svvnqrchqm kerlqqilnf qndlkvlfts ladnkyiilq klanvfeqpv
     6481 aeqieaiqqa edglkefdag iielkrrgdk lqveqpsmqe lsklqdmyde lmmiigsrrs
     6541 glnqnltlks qyeralqdla dlletgqekm agdqkiivss keeiqqlldk hkeyfqgles
     6601 hmiltetlfr kiisfavqke tqfhtelmaq asavlkrahk rgveleyile twshldedqq
     6661 elsrqlevve ssipsvglve enedrlidri tlyqhlkssl neyqpklyqv lddgkrllis
     6721 iscsdlesql nqlgecwlsn tnkmskelhr letilkhwtr yqsesadlih wlqsakdrle
     6781 fwtqqsvtvp qelemvrdhl naflefskev daqsslkssv lstgnqllrl kkvdtatlrs
     6841 elsridsqwt dlltnipavq eklhqlqmdk lpsrhaisev mswislmenv iqkdednikn
     6901 sigykaihey lqkykgfkid inckqltvdf vnqsvlqiss qdveskrsdk tdfaeqlgam
     6961 nkswqilqgl vtekiqlleg lleswseyen nvqclktwfe tqekrlkqqh rigdqasvqn
     7021 alkdcqdled likakekeve kieqnglali qnkkedvssi vmstlrelgq twanldhmvg
     7081 qlkillksvl dqwsshkvaf dkinsylmea ryslsrfrll tgsleavqvq vdnlqnlqdd
     7141 lekqerslqk fgsitnqllk echppvtetl tntlkevnmr wnnlleeiae qlqsskallq
     7201 lwqrykdysk qcastvqqqe drtnellkaa tnkdiaddev atwiqdcndl lkglgtvkds
     7261 lfflhelgeq lkqqvdasaa saiqsdqlsl sqhlcaleqa lckqqtslqa gvldyetfak
     7321 slealeawiv eaeeilqgqd pshssdlsti qermeelkgq mlkfssmapd ldrlnelgyr
     7381 lplndkeikr mqnlnrhwsl issqtterfs klqsfllqhq tflekcetwm eflvqteqkl
     7441 aveisgnyqh lleqqrahel fqaemfsrqq ilhsiiidgq rlleqgqvdd rdefnlkltl
     7501 lsnqwqgvir raqqrrgiid sqirqwqryr emaeklrkwl vevsylpmsg lgsvpiplqq
     7561 artlfdevqf kekvflrqqg syiltveagk qlllsadsga eaalqaelae iqekwksasm
     7621 rleeqkkkla fllkdwekce kgiadslekl rtfkkklsqs lpdhheelha eqmrckelen
     7681 avgswtddlt qlsllkdtls ayisaddisi lnervellqr qweelchqls lrrqqigerl
     7741 newavfsekn kelcewltqm eskvsqngdi lieemieklk kdyqeeiaia qenkiqlqqm
     7801 gerlakashe skaseieykl gkvndrwqhl ldliaarvkk lketlvavqq ldknmsslrt
     7861 wlahiesela kpivydscns eeiqrklneq qelqrdiekh stgvasvlnl cevllhdcda
     7921 catdaecdsi qqatrnldrr wrnicamsme rrlkieetwr lwqkflddys rfedwlksse
     7981 rtaafpsssg viytvakeel kkfeafqrqv hecltqleli nkqyrrlare nrtdsacslk
     8041 qmvhegnqrw dnlqkrvtsi lrrlkhfigq reefetards ilvwltemdl qltniehfse
     8101 cdvqakikql kafqqeisln hnkieqiiaq geqlieksep ldaaiieeel delrrycqev
     8161 fgrveryhkk lirlplpdde hdlsdrelel edsaalsdlh whdrsadsll spqpssnlsl
     8221 slaqplrser sgrdtpasvd siplewdhdy dlsrdlesam sralpsedee gqddkdfylr
     8281 gavglsdvmi pespeayvkl tenaikntsg dhsalesqir qlgkalddsr fqiqqtenii
     8341 rsktptgpel dtsykgymkl lgecsssids vkrlehklke eeeslpgfvn lhstetqtag
     8401 vidrwellqa qalskelrmk qnlqkwqqfn sdlnsiwawl gdteeeleql qrlelstdiq
     8461 tielqikklk elqkavdhrk aiilsinlcs peftqadske srdlqdrlsq mngrwdrvcs
     8521 lleewrgllq dalmqcqift gqvgrpflni kgfhemshgl llmlenidrr kneivpidsn
     8581 ldaeilqdhh kqlmqikhel lesqlrvasl qdmscqllvn aegtdcleak ekvhvignrl
     8641 klllkevsrh ikeleklldv sssqqdlssw ssadeldtsg svsptsgrst pnrqktprgk
     8701 cslsqpgpsv ssphsrstkg gsdsslsepg pgrsgrgflf rvlraalplq lllllligla
     8761 clvpmseedy scalsnnfar sfhpmlrytn gpppl
//
LOCUS       XP_047274637             908 aa            linear   PRI 20-MAR-2023
DEFINITION  glutamate receptor ionotropic, kainate 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047274637
VERSION     XP_047274637.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418681.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..908
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..908
                     /product="glutamate receptor ionotropic, kainate 2 isoform
                     X1"
                     /calculated_mol_wt=102453
     Region          37..414
                     /region_name="PBP1_iGluR_Kainate"
                     /note="N-terminal leucine-isoleucine-valine binding
                     protein (LIVBP)-like domain of the kainate receptors;
                     cd06382"
                     /db_xref="CDD:380605"
     Site            order(87..89,93,124,176,179,183,186,189..190,200..203)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:380605"
     Region          430..800
                     /region_name="Periplasmic_Binding_Protein_Type_2"
                     /note="Type 2 periplasmic binding fold superfamily;
                     cl21456"
                     /db_xref="CDD:451248"
     CDS             1..908
                     /gene="GRIK2"
                     /gene_synonym="EAA4; GLR6; GluK2; GLUK6; GLUR6; MRT6;
                     NEDLAS"
                     /coded_by="XM_047418681.1:939..3665"
                     /db_xref="GeneID:2898"
                     /db_xref="HGNC:HGNC:4580"
                     /db_xref="MIM:138244"
ORIGIN      
        1 mkiifpilsn pvfrrtvkll lcllwigysq gtthvlrfgg ifeyvesgpm gaeelafrfa
       61 vntinrnrtl lpnttltydt qkinlydsfe askkacdqls lgvaaifgps hsssanavqs
      121 icnalgvphi qtrwkhqvsd nkdsfyvsly pdfsslsrai ldlvqffkwk tvtvvyddst
      181 glirlqelik apsrynlrlk irqlpadtkd akpllkemkr gkefhvifdc shemaagilk
      241 qalamgmmte yyhyifttld lfaldvepyr ysgvnmtgfr ilntentqvs siiekwsmer
      301 lqappkpdsg lldgfmttda almydavhvv svavqqfpqm tvsslqcnrh kpwrfgtrfm
      361 slikeahweg ltgritfnkt nglrtdfdld vislkeegle kigtwdpasg lnmtesqkgk
      421 panitdslsn rslivttile epyvlfkksd kplygndrfe gycidllrel stilgftyei
      481 rlvedgkyga qddangqwng mvrelidhka dlavaplait yvrekvidfs kpfmtlgisi
      541 lyrkpngtnp gvfsflnpls pdiwmyilla ylgvscvlfv iarfspyewy nphpcnpdsd
      601 vvennftlln sfwfgvgalm qqgselmpka lstrivggiw wfftliiiss ytanlaaflt
      661 vermespids addlakqtki eygavedgat mtffkkskis tydkmwafms srrqsvlvks
      721 neegiqrvlt sdyaflmest tiefvtqrnc nltqigglid skgygvgtpm gspyrdkiti
      781 ailqlqeegk lhmmkekwwr gngcpeeesk easalgvqni ggifivlaag lvlsvfvavg
      841 eflykskkna qlekrsfcsa mveelrmslk cqrrlkhkpq apvivkteev inmhtfndrr
      901 lpgketma
//
LOCUS       XP_005249434             539 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 26 isoform X1 [Homo sapiens].
ACCESSION   XP_005249434
VERSION     XP_005249434.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005249377.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..539
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..539
                     /product="tripartite motif-containing protein 26 isoform
                     X1"
                     /calculated_mol_wt=62035
     Region          10..71
                     /region_name="RING-HC_TRIM26_C-IV"
                     /note="RING finger, HC subclass, found in tripartite
                     motif-containing protein 26 (TRIM26) and similar proteins;
                     cd16598"
                     /db_xref="CDD:438260"
     Region          100..138
                     /region_name="Bbox2_TRIM10-like"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing proteins, TRIM10, TRIM15, TRIM26, TRIM31
                     and similar proteins; cd19765"
                     /db_xref="CDD:380823"
     Region          <145..>304
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          175..>217
                     /region_name="HDAC4_Gln"
                     /note="Glutamine rich N terminal domain of histone
                     deacetylase 4; pfam12203"
                     /db_xref="CDD:403429"
     Region          314..538
                     /region_name="SPRY_PRY_TRIM15"
                     /note="PRY/SPRY domain in tripartite motif-binding protein
                     15 (TRIM15); cd15826"
                     /db_xref="CDD:293998"
     CDS             1..539
                     /gene="TRIM26"
                     /gene_synonym="AFP; RNF95; ZNF173"
                     /coded_by="XM_005249377.3:242..1861"
                     /db_xref="GeneID:7726"
                     /db_xref="HGNC:HGNC:12962"
                     /db_xref="MIM:600830"
ORIGIN      
        1 matsaplrsl eeevtcsicl dylrdpvtid cghvfcrsct tdvrpisgsr pvcplckkpf
       61 kkenirpvwq laslvenier lkvdkgrqpg evtreqqdak lcerhreklh yyceddgkll
      121 cvmcresreh rphtavlmek aaqphrekil nhlstlrrdr dkiqgfqakg eadilaalkk
      181 lqdqrqyiva efeqghqflr ereehlleql akleqelteg rekfksrgvg elarlalvis
      241 elegkaqqpa aelmqdtrdf lnryprkkfw vgkpiarvvk kktgefsdkl lslqrglref
      301 qgkllrdley ktvsvtldpq sasgylqlse dwkcvtytsl yksaylhpqq fdcepgvlgs
      361 kgftwgkvyw eveveregws edeeegdeee egeeeeeeee agygdgyddw etdedeeslg
      421 deeeeeeeee eevlescmvg vardsvkrkg dlslrpedgv walrlsssgi wantspeael
      481 fpalrprrvg ialdyeggtv tftnaesqel iytftatftr rlvpflwlkw pgtrlllrp
//
LOCUS       XP_047276297             634 aa            linear   PRI 20-MAR-2023
DEFINITION  integrin beta-8 isoform X4 [Homo sapiens].
ACCESSION   XP_047276297
VERSION     XP_047276297.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420341.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..634
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..634
                     /product="integrin beta-8 isoform X4"
                     /calculated_mol_wt=71153
     Region          <1..334
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     CDS             1..634
                     /gene="ITGB8"
                     /coded_by="XM_047420341.1:482..2386"
                     /db_xref="GeneID:3696"
                     /db_xref="HGNC:HGNC:6163"
                     /db_xref="MIM:604160"
ORIGIN      
        1 mlkvhplkky pvdlyylvdv sasmhnniek lnsvgndlsr kmaffsrdfr lgfgsyvdkt
       61 vspyisihpe rihnqcsdyn ldcmpphgyi hvlsltenit efekavhrqk isgnidtpeg
      121 gfdamlqaav ceshigwrke akrlllvmtd qtshlaldsk lagivvpndg nchlknnvyv
      181 ksttmehpsl gqlseklidn ninvifavqg kqfhwykdll pllpgtiage ieskaanlnn
      241 lvveayqkli sevkvqvenq vqgiyfnita icpdgsrkpg megcrnvtsn devlfnvtvt
      301 mkkcdvtggk nyaiikpigf netakihihr ncscqcednr gpkgkcvdet fldskcfqcd
      361 enkchfdedq fssesckshk dqpvcsgrgv cvcgkcschk iklgkvygky cekddfscpy
      421 hhgnlcaghg eceagrcqcf sgwegdrcqc psaaaqhcvn skgqvcsgrg tcvcgrcect
      481 dprsigrfce hcptcytack enwncmqclh phnlsqaild qcktscalme qqhyvdqtse
      541 cfsspsylri ffiifivtfl igllkvliir qvilqwnsnk iksssdyrvs askkdklilq
      601 svctravtyr rekpeeikmd isklnahetf rcnf
//
LOCUS       XP_047276544            1314 aa            linear   PRI 20-MAR-2023
DEFINITION  neurabin-1 isoform X15 [Homo sapiens].
ACCESSION   XP_047276544
VERSION     XP_047276544.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420588.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1314
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1314
                     /product="neurabin-1 isoform X15"
                     /calculated_mol_wt=147152
     Region          434..497
                     /region_name="PDZ_5"
                     /note="PDZ domain; pfam17817"
                     /db_xref="CDD:436065"
     Region          501..592
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(513..516,518,573..574,577..578)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          <658..>897
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          1198..1267
                     /region_name="SAM_Neurabin-like"
                     /note="SAM domain of SAM_Neurabin-like subfamily; cd09512"
                     /db_xref="CDD:188911"
     CDS             1..1314
                     /gene="PPP1R9A"
                     /gene_synonym="Neurabin-I; NRB1; NRBI"
                     /coded_by="XM_047420588.1:567..4511"
                     /db_xref="GeneID:55607"
                     /db_xref="HGNC:HGNC:14946"
                     /db_xref="MIM:602468"
ORIGIN      
        1 mlktessger ttlrsasphr nayrtefqal kstfdkpksd geqktkegeg sqqsrgrkyg
       61 snvnriknlf mqmgmepnen aaviaktrgk gghsspqrrm kpkeflektd gsvvklessv
      121 serisrfdtm ydgpsyskft etrkmfersv hesgqnnrys pkkekaggse pqdewggsks
      181 nrgstdslds lssrteavsp tvsqlsavfe ntdspsaiis ekaenneysv tghyplnlps
      241 vtvtnldtfg hlkdsnswpp snkrgvdted ahksnatpvp evaskstsla sipgeeiqqs
      301 kepedstsnq qtpdsidkdg peepcaeska mpkseipspq sqlledaean lvgreaakqq
      361 rkelaggdft spdasasscg kevpedsnnf dgshvymhsd ynvyrvrsry nsdwgetgte
      421 qdeeedsden syyqpdmeys eivglpeeee ipanrkikfs sapikvfnty snedydrrnd
      481 evdpvaasae yelekrvekl elfpvelekd edglgisiig mgvgadagle klgifvktvt
      541 eggaaqrdgr iqvndqivev dgislvgvtq nfaatvlrnt kgnvrfvigr ekpgqvseva
      601 qlisqtleqe rrqrelleqh yaqydaddde tgeyatdeee devgpvlpgs dmaievfelp
      661 enedmfspse ldtsklshkf kelqikhavt eaeiqklktk lqaaenekvr welektqlqq
      721 nieenkerml klesywieaq tlchtvnehl ketqsqyqal ekkynkakkl ikdfqqkeld
      781 fikrqeaerk kiedlekahl vevqglqvri rdleaevfrl lkqngtqvnn nnniferrts
      841 lgevskgdtm enldgkqtsc qdglsqdlne avpeterlds kalktraqls vknrrqrpsr
      901 trlydsvsst dgedslerkp snsfynhmhi tkllppkglr tsspesdsgv ppltpvdsnv
      961 pfssdhiaef qeepldpemg plssmwgdts lfstsksdhd veespchhqt tnkkilrekd
     1021 dakdpkslra ssslavqggk ikrkfvdlga plrrnsskgk kwkekekeas rfsagsrifr
     1081 grlenwtpkp cstaqtstrs pcmpfswfnd srkgsysfrn lpaptsslqp spetlisdkk
     1141 gsknftfndd fspsstssad lsglgaepkt pglsqslals sdeilddgqs pkhsqcqnra
     1201 vqewsvqqvs hwlmslnleq yvsefsaqni tgeqllqldg nklkalgmta sqdravvkkk
     1261 lkemkmslek arkaqekmek qreklrrkeq eqmqrkskkt ekmtsttaeg ageq
//
LOCUS       XP_011516772            2965 aa            linear   PRI 20-MAR-2023
DEFINITION  hemicentin-2 isoform X7 [Homo sapiens].
ACCESSION   XP_011516772
VERSION     XP_011516772.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011518470.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2965
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..2965
                     /product="hemicentin-2 isoform X7"
                     /calculated_mol_wt=317112
     Region          37..195
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cd00198"
                     /db_xref="CDD:238119"
     Site            order(44,117,141)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238119"
     Region          434..513
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          524..604
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          534..538
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          547..551
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          570..574
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          584..589
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          597..600
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          608..681
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          625..629
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          638..642
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          660..664
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          674..679
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          687..690
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          712..782
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          715..719
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          728..732
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          748..752
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          762..767
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          792..879
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          803..807
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          816..820
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          845..849
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          859..864
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          872..875
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          884..959
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          902..906
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          916..920
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          952..957
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          965..968
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          975..1050
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          1006..1010
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1029..1033
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1043..1048
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1057..1060
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1080..1161
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          1091..1095
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1104..1108
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1127..1131
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1141..1146
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1154..1157
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1165..1246
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          1182..1186
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1195..1199
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1212..1216
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1226..1231
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1239..1242
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1258..1340
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          1269..1273
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1282..1286
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1306..1310
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1320..1325
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1354..1433
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1363..1367
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1376..1380
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1399..1403
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1413..1418
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1426..1429
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1446..1527
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          1456..1460
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1469..1473
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1492..1497
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1507..1512
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1530..1607
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          1543..1554
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1563..1567
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1586..1590
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1600..1605
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1632..1705
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          1644..1648
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1657..1661
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1680..1684
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1694..1699
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1729..1807
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1737..1741
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1750..1754
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1772..1777
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1787..1792
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1800..1803
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1820..1893
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          1829..1833
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1842..1846
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1857..1861
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1871..1876
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1884..1887
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1895..1975
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1912..1916
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1925..1929
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1948..1952
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1962..1967
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1975..1978
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1985..2061
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          2004..2008
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2017..2021
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2042..2046
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2056..2061
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2070..2073
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2079..2154
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          2097..2101
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2110..2114
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2133..2137
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2147..2152
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2160..2163
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2171..2261
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          2189..2193
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2202..2206
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2227..2231
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2241..2246
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2254..2257
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2273..2355
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          2285..2289
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2298..2302
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2320..2325
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2335..2340
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2358..2436
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          2379..2383
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2392..2396
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2415..2419
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2429..2434
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2464..2542
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          2472..2476
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2485..2489
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2508..2512
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2522..2527
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2535..2538
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2560..2638
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          2568..2572
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2581..2585
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2604..2608
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2618..2623
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2656..2728
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          2666..2670
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2679..2683
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2702..2706
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2716..2721
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2770..2847
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          2777..2781
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2790..2794
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2814..2817
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2827..2832
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          2840..2843
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          2864..2942
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          2872..2876
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          2885..2889
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          2907..2912
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          2922..2927
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..2965
                     /gene="HMCN2"
                     /coded_by="XM_011518470.3:120..9017"
                     /db_xref="GeneID:256158"
                     /db_xref="HGNC:HGNC:21293"
ORIGIN      
        1 mmpgapllrl ltavsaavav avagapgtvm ppttgdatla fvfdvtgsmw delmqvidga
       61 srilerslsr rsqaianyal vpfhdpdigp vtltadptvf qrelrelyvq gggdcpemsv
      121 gaikaaveva npgsfiyvfs darakdyhkk eellrllqlk qsqvvfvltg dcgdrthpgy
      181 layeeiaats sgqvfhldkq qvtevlkwve saiqaskvhl lstdheeege htwrlpfdps
      241 lkevtislsg pgpeievqdp lgrilqedeg lnvllnipds akvvafkpeh pglwsikvys
      301 sgrhsvritg vsnidfragf stqplldlnh tlewplqgvp islvinstgl kapgrldsve
      361 laqssgkpll tlptkplsng sthqlwggpp fhtpkerfyl kvkgkdhegn pllrvsgvsy
      421 sgvapgaplv smaprihgyl hqpllvscsv hsalpfrlql rrgearlgee rhfqesgnss
      481 weilraskae egtyectavs ragtgrakaq ivvtdpppql vpapnvtvsp getavlscrv
      541 lgeapynltw vrdwrvlpas tgrvaqladl sleisgiipt dggryqcvas nangvtrasv
      601 wllvreapqv sihtssqhfs qgvevkvscs asgyptphis wsresqalqe dsrihvdaqg
      661 tliiqgvape dagnyscqat nevgtdqetv tlyytdppsv savnavvlva vgeeavlvce
      721 asgvppprvi wyrgglemil apegsssgkl ripaaqerda gtytcravne lgdasaeiql
      781 avghapqlte lprdvtvelg rsallacrat grppptvtwr rgdgqplglr lgagrgsrsr
      841 qpdsgvlffe svapedqapy vcearnvfgk vqaearlivt ghappqiass aptvrvlegq
      901 pvslpcivla grplperhwl kdgrplppgs rhsiradgsl hldralqeha gryscvatnt
      961 agsqhrdvel vvqvpprihp tathhitneg vaaslpcvas gvpaptitwt ketnaltsrg
     1021 phynvskegt lliaqpsaqd agayvctatn tvgfssqemr lsvntkprih mngsrnadvp
     1081 lqvtakagee vtldceakgs ppplvtwtkd srpvppitnr ygllpsgslr laqvqvgdsg
     1141 hyectasnpa gsashryvlg vqvppqvqpg prvlkvlvge aldlncvaeg npepqlswsk
     1201 dgvvlqgrgp qgsvhfaair tsdagryrce asnsagvdaw evelrvlepp hwgadetsgl
     1261 lervagenas lpcpargtpk pqvtwrkgps seplhgqpgv avleegslfl asvspadsgd
     1321 yecqatnevg stsrraklvv yvppsiredg rkanvsgmag qsltlecdan gfpvpeivwl
     1381 kdaqlipkvg ghrlldegqs lhfpriqegd sglyscraen qagtaqrdfh llvltppsvl
     1441 gagaaqevlg lagadvelqc wtsgvptpqv ewtkdrqpvl pggphlqvqe dgqvlritgs
     1501 hvgdegryqc vafspagqqa rdfqlrvhap ptiwgsnetg evavmedhlv qllceargvp
     1561 tpnitwfkdg allptstkvv ytrggrqlql graqssdagv ytckasnavg aaekatrldv
     1621 yvpptiegag grpyvvkava grpvalecva rghpsptlsw hheglpvaes nesrletdgs
     1681 vlrlespgea ssglyscvas spageavlqy svevqvppql lvaeglgqvt tivgqplelp
     1741 cqasgspvpt iqwlqngrpa eelagvqvas qgttlhidhv eldhsglfac qatneagtag
     1801 aevevsvhef psvsiiggen itapflqpvt lqcigdgvpt pslrwwkdgv alaafggnlq
     1861 iekvdlrdeg iytcaatnla geskrevalk vlvppniepg pvnkavlena svtleclasg
     1921 vpppdvswfk ghqpvsswmg vtvsvdgrvl rieqaqlsda gsyrcvasnv agstelrygl
     1981 rvnvppritl ppslpgpvlv ntpvrltcna tgapsptlmw lkdgnpvspa gtpglqvfpg
     2041 grvltlasar asdsgryscv avsavgedrq dvvlqvhmpp silgeelnvs vvanesvale
     2101 cqshampppv lswwkdgrpl eprpgvhlsa dkallqvdra dvwdaghytc ealnqaghse
     2161 khynlnvwva pvfplresht ltvreghptr lscecrgvpf pkiswrkdgq plpgegaglq
     2221 hvsavgrlly lgqaqlaqeg tytcecsnvv gnssqdlqle vhvppqiagp repptqvsvv
     2281 qdgvatlecn atgkppptvt werdgqpvga elglqlqnqg qslhveraqa ahtgryscva
     2341 enlagraerk felsvlvppe ligdldpltn itaalhsplt llceamgipp pairwfrgee
     2401 pvspgedtyl laggwmlkmt qtqeqdsgly sclasneage arrnfsvevl vppsienedl
     2461 eevikvldgq tahlmcnvtg hpqpkltwfk dgrplargda hhispdgvll qvlqanlssa
     2521 ghysciaana vgektkhfql svllaptilg gaedsadeev tvtvnnpisl icealafpsp
     2581 nitwmkdgap feasrniqll pgthglqiln aqkedagqyt cvvtnelgea vknyhvevli
     2641 ppsiskddpl aevgvkevkt kvnstltlec eswavpppti rwykdgqpvt pssrlqvlge
     2701 grllqiqptq vsdsgrylcv atnvageddq dfnvliqvpp mfqkvgdfsa afeilsreee
     2761 arggvteyre ivennpayly cdtnaipppd ltwyredqpl sagdevsvlq ggrvlqiplv
     2821 raenagrysc kasnevgedw lhyellvltp pvilgdteel veevtvnass tvslqcpalg
     2881 npvptiswlq nglpfspspr lqvledgqvl qvstaevada asymcvaenq agsaeklftl
     2941 rvqvsfcvre swqmevself evvpr
//
LOCUS       XP_016870660             242 aa            linear   PRI 20-MAR-2023
DEFINITION  G kinase-anchoring protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_016870660
VERSION     XP_016870660.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017015171.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..242
                     /product="G kinase-anchoring protein 1 isoform X2"
                     /calculated_mol_wt=28099
     Region          39..>225
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..242
                     /gene="GKAP1"
                     /gene_synonym="FKSG21; GKAP42"
                     /coded_by="XM_017015171.2:95..823"
                     /db_xref="GeneID:80318"
                     /db_xref="HGNC:HGNC:17496"
                     /db_xref="MIM:611356"
ORIGIN      
        1 mfeadlekal llskleyeeh kkeyedaent stqskvmnkk dkrknhqgkd rpltvslkdf
       61 hsedhiskkt eelsssqtls hdggffnrle ddvhkilire krreqlteyn gtdnctaheh
      121 nqevvlkdgr ierlkleler kdaeiqklkn vitqweakyk evkarnaqll kmlqegemkd
      181 kaeillqvde sqsiknelti qvtslhaale qerskvkvlq aelakyqggr kgkrnsesdq
      241 cr
//
LOCUS       XP_047298444             733 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 185 isoform X10 [Homo sapiens].
ACCESSION   XP_047298444
VERSION     XP_047298444.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442488.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..733
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..733
                     /product="zinc finger protein 185 isoform X10"
                     /calculated_mol_wt=77865
     Region          241..>582
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          672..728
                     /region_name="LIM"
                     /note="Zinc-binding domain present in Lin-11, Isl-1,
                     Mec-3; smart00132"
                     /db_xref="CDD:214528"
     Site            order(673,676,696,699,702,705,725,728)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:259829"
     CDS             1..733
                     /gene="ZNF185"
                     /gene_synonym="SCELL"
                     /coded_by="XM_047442488.1:218..2419"
                     /db_xref="GeneID:7739"
                     /db_xref="HGNC:HGNC:12976"
                     /db_xref="MIM:300381"
ORIGIN      
        1 msisalggrt kgkplppgee ernnvlkqmk vrttlkgdks witkqdeseg rtielpsgrs
       61 ratsfssage vpkprppstr aptgyiirgv ftkpidsssq pqqqfpkang tpksaaslvr
      121 tanagpprps ssgykmtted ykklapynir rsstsgdtee eeeeevvpfs sdeqkrrsea
      181 asgvlrrtap rehsyvlsaa kkstgptqet qapfiakrve vveedgpsek sqdppalars
      241 tpgsnsadgg rtkasraiwi eclpsmpspa gsqelssrge eivrlqiltp raglrlvapd
      301 vegmrsspgn kdkeapcsre lqrdlageea frapntdaar ssaqlsdgnv gsgatgsrpe
      361 glaavdigse rgsssatsvs avpadrksns taaqedakad pkgaladyeg kdvatrvgea
      421 wqerpgaprg gqgdpavpaq qpadpstper qsspsgseql vrrescgsrr vpqpdsspkk
      481 ipplpcggpg qgsirrdkag ghigdclltp gasvltdfeg kdvatkvgea wqdrpgaprg
      541 gqgdpavptq qpadpstpeq qnspsgseqf vrresctsrv rspsscmvtv tvtatseqph
      601 iyipapasel dsssttkgil fvkeyvnase vssgkpvsar ysnvssieds famekkppcg
      661 stpyserttg gictycnrei rdcpkitleh lgiccheycf kcgicskpmg dlldqifihr
      721 dtihcgkcye klf
//
LOCUS       XP_003403930             436 aa            linear   PRI 20-MAR-2023
DEFINITION  keratin, type I cuticular Ha4 isoform X1 [Homo sapiens].
ACCESSION   XP_003403930
VERSION     XP_003403930.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_003403882.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003315953.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..436
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     Protein         1..436
                     /product="keratin, type I cuticular Ha4 isoform X1"
                     /calculated_mol_wt=49281
     Region          97..408
                     /region_name="Filament"
                     /note="Intermediate filament protein; pfam00038"
                     /db_xref="CDD:425436"
     CDS             1..436
                     /gene="LOC100653049"
                     /coded_by="XM_003403882.6:26..1336"
                     /db_xref="GeneID:100653049"
ORIGIN      
        1 mlyakpppti ngikglqrke rlkpahihlq qltcfsitcs stmsyscclp slgcrtscss
       61 rpcvppschg ytlpgacnip anvsncnwfc egsfngseke tmqflndrla sylekvrqle
      121 rdnaelekli qersqqqepl lcpsyqsyfk tieelqqkil cakaenarlv vnidnaklas
      181 ddfrskyqte qslrllvesd insirrilde ltlcksdles qveslreeli clkknheeev
      241 ntlrsqlgdr lnvevdtapt vdlnqvlnet rsqyealvet nrreveqwfa tqteelnkqv
      301 vssseqlqsc qaeiielrrt vnaleielqa qhnlrdslen tlteseahys sqlsqvqsli
      361 tnvesqlaei rcdlerqnqe yqvlldvrar leceintyrs llesedcklp cnpcattnas
      421 gnscgpcgts qkgccn
//
LOCUS       XP_054185612             489 aa            linear   PRI 20-MAR-2023
DEFINITION  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform
            X9 [Homo sapiens].
ACCESSION   XP_054185612
VERSION     XP_054185612.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329637.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571054.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..489
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..489
                     /product="leukocyte immunoglobulin-like receptor subfamily
                     B member 4 isoform X9"
                     /calculated_mol_wt=53562
     CDS             1..489
                     /gene="LILRB4"
                     /gene_synonym="B4; CD85K; ILT-3; ILT3; LIR-5; LIR5"
                     /coded_by="XM_054329637.1:219..1688"
                     /db_xref="GeneID:11006"
                     /db_xref="HGNC:HGNC:6608"
                     /db_xref="MIM:604821"
ORIGIN      
        1 meqphdekdp askrphpvcl fvlpalrthp saqlgplggd amiptftall clglslgprt
       61 hmqagplpkp tlwaepgsvi swgnsvtiwc qgtleareyr ldkeespapw drqnplepkn
      121 karfsipsmt edyagryrcy yrspvgwsqp sdplelvmtg ayskptlsal psplvtsgks
      181 vtllcqsrsp mdtflliker aahpllhlrs ehgaqqhqae fpmspvtsvh ggtyrcfssh
      241 gfshyllshp sdplelivsg slegprpspt rsvstagped qplmptgsvp hsglrrhwev
      301 ligvlvvsil llslllflll qhwrqgkhrt laqrqadfqr ppgaaepepk dgglqrrssp
      361 aadvqgenfs gaavkdtqpe dgvemdtrqs phdedpqavt yakvkhsrpr remasppspl
      421 sgefldtkdr qaeedrqmdt eaaaseapqd vtyarlhsft lrqkateppp sqegaspaep
      481 svyatlaih
//
LOCUS       XP_054187097             539 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 26 isoform X1 [Homo sapiens].
ACCESSION   XP_054187097
VERSION     XP_054187097.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331122.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..539
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..539
                     /product="tripartite motif-containing protein 26 isoform
                     X1"
                     /calculated_mol_wt=62035
     CDS             1..539
                     /gene="TRIM26"
                     /gene_synonym="AFP; RNF95; ZNF173"
                     /coded_by="XM_054331122.1:352..1971"
                     /db_xref="GeneID:7726"
                     /db_xref="HGNC:HGNC:12962"
                     /db_xref="MIM:600830"
ORIGIN      
        1 matsaplrsl eeevtcsicl dylrdpvtid cghvfcrsct tdvrpisgsr pvcplckkpf
       61 kkenirpvwq laslvenier lkvdkgrqpg evtreqqdak lcerhreklh yyceddgkll
      121 cvmcresreh rphtavlmek aaqphrekil nhlstlrrdr dkiqgfqakg eadilaalkk
      181 lqdqrqyiva efeqghqflr ereehlleql akleqelteg rekfksrgvg elarlalvis
      241 elegkaqqpa aelmqdtrdf lnryprkkfw vgkpiarvvk kktgefsdkl lslqrglref
      301 qgkllrdley ktvsvtldpq sasgylqlse dwkcvtytsl yksaylhpqq fdcepgvlgs
      361 kgftwgkvyw eveveregws edeeegdeee egeeeeeeee agygdgyddw etdedeeslg
      421 deeeeeeeee eevlescmvg vardsvkrkg dlslrpedgv walrlsssgi wantspeael
      481 fpalrprrvg ialdyeggtv tftnaesqel iytftatftr rlvpflwlkw pgtrlllrp
//
LOCUS       XP_054221723            1061 aa            linear   PRI 20-MAR-2023
DEFINITION  insulin-degrading enzyme isoform X1 [Homo sapiens].
ACCESSION   XP_054221723
VERSION     XP_054221723.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365748.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1061
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1061
                     /product="insulin-degrading enzyme isoform X1"
                     /calculated_mol_wt=122016
     CDS             1..1061
                     /gene="IDE"
                     /gene_synonym="INSULYSIN"
                     /coded_by="XM_054365748.1:179..3364"
                     /db_xref="GeneID:3416"
                     /db_xref="HGNC:HGNC:5381"
                     /db_xref="MIM:146680"
ORIGIN      
        1 merpgprapw vtavwrsgck vviqhlkppp lpltppvppa wgpycraeaa pgpgraarqa
       61 garglvqsrg rplgcfqkkt yskmnnpaik rignhitksp edkreyrgle langikvlli
      121 sdpttdkssa aldvhigsls dppniaglsh fcehmlflgt kkypkeneys qflsehagss
      181 naftsgehtn yyfdvshehl egaldrfaqf flcplfdesc kdrevnavds eheknvmnda
      241 wrlfqlekat gnpkhpfskf gtgnkytlet rpnqegidvr qellkfhsay yssnlmavcv
      301 lgreslddlt nlvvklfsev enknvplpef pehpfqeehl kqlykivpik dirnlyvtfp
      361 ipdlqkyyks npghylghli ghegpgslls elkskgwvnt lvggqkegar gfmffiinvd
      421 lteegllhve diilhmfqyi qklraegpqe wvfqeckdln avafrfkdke rprgytskia
      481 gilhyyplee vltaeyllee frpdliemvl dklrpenvrv aivsksfegk tdrteewygt
      541 qykqeaipde vikkwqnadl ngkfklptkn efiptnfeil plekeatpyp alikdtamsk
      601 lwfkqddkff lpkaclnfef fspfayvdpl hcnmaylyle llkdslneya yaaelaglsy
      661 dlqntiygmy lsvkgyndkq pillkkiiek matfeidekr feiikeaymr slnnfraeqp
      721 hqhamyylrl lmtevawtkd elkealddvt lprlkafipq llsrlhieal lhgnitkqaa
      781 lgimqmvedt liehahtkpl lpsqlvryre vqlpdrgwfv yqqrnevhnn cgieiyyqtd
      841 mqstsenmfl elfcqiisep cfntlrtkeq lgyivfsgpr rangiqglrf iiqsekpphy
      901 lesrveafli tmeksiedmt eeafqkhiqa lairrldkpk klsaecakyw geiisqqynf
      961 drdntevayl ktltkediik fykemlavda prrhkvsvhv laremdscpv vgefpcqndi
     1021 nlsqapalpq peviqnmtef krglplfplv kphinfmaak l
//
LOCUS       XP_054227407            1024 aa            linear   PRI 20-MAR-2023
DEFINITION  R3H domain-containing protein 2 isoform X14 [Homo sapiens].
ACCESSION   XP_054227407
VERSION     XP_054227407.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371432.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1024
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1024
                     /product="R3H domain-containing protein 2 isoform X14"
                     /calculated_mol_wt=112376
     CDS             1..1024
                     /gene="R3HDM2"
                     /gene_synonym="CAG6; PR01365"
                     /coded_by="XM_054371432.1:430..3504"
                     /db_xref="GeneID:22864"
                     /db_xref="HGNC:HGNC:29167"
                     /db_xref="MIM:619886"
ORIGIN      
        1 msnsnttqet leimkesekk lveesvnknk fisktpskee iekecedtsl rqetqrrtsn
       61 hgharkraks nsklklvrsl avceesstpf adgpletqdi iqlhiscpsd keeekstkdv
      121 sekedkdknk ekiprkmlsr dssqeytdst gidlheflvn tlkknprdrm mllkleqeil
      181 efindnnnqf kkfpqmtsyh rmllhrvaay fgmdhnvdqt gkaviinkts ntripeqrfs
      241 ehikdeknte fqqrfilkrd dasmdrddnq irvplqdgrr sksieereee yqrvrerifa
      301 retgqngyln dirgnregls rtsssrqsst dselkslepr pwsstdsdgs vrsmrppvtk
      361 assfsgisil trgdsigssk ggsagrisrp gmalgapevc nqvtssqsvr gllpctaqqq
      421 qqqqqqqlpa lpptpqqqpp lnnhmisqpv palqpspqpv qfspsscpqv llpvsppqqy
      481 nmaddlsnpf gqmslsrqgs teaadpsaal fqtplisqhp qqtsfimast gqplptsnys
      541 tsshapptqq vlppqgymqp pqqiqvsyyp pgqypnsnqq yrplshpvay spqrgqqlpq
      601 psqqpglqpm mpnqqqaayq gmigvqqpqn qgllssqrss mggqmqglvv qytplpsyqv
      661 pvgsdsqnvv qppfqqpmlv pvsqsvqggl paagvpvyys mippaqqngt spsvgflqpp
      721 gseqyqmpqs pspcsppqmp qqysgvspsg pgvvvmqlnv pngpqppqnp smvqwshcky
      781 ysmdqrgqkp gdlyspdssp qantqmsssp vtsptqspap spvtslssvc tglsplpvlt
      841 qfprpggpaq gdgrysllgq plqynlsicp pllhgqstyt vhqgqsglkh gnrgkrqalk
      901 sastdlgtad vvlgrvlevt dlpegitrte adklftqlam sgakiqwlkd aqglpggggg
      961 dnsgtaengr hsdlaalyti vavfpsplaa qnaslrlnns vsrfklrmak knydlriler
     1021 assq
//
LOCUS       XP_054227603             270 aa            linear   PRI 20-MAR-2023
DEFINITION  single-strand selective monofunctional uracil DNA glycosylase
            isoform X1 [Homo sapiens].
ACCESSION   XP_054227603
VERSION     XP_054227603.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371628.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..270
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..270
                     /product="single-strand selective monofunctional uracil
                     DNA glycosylase isoform X1"
                     /calculated_mol_wt=29731
     CDS             1..270
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /coded_by="XM_054371628.1:573..1385"
                     /db_xref="GeneID:23583"
                     /db_xref="HGNC:HGNC:17148"
                     /db_xref="MIM:607753"
ORIGIN      
        1 mpqafllgsi hepagalmep qpcpgslaes fleeelrlna elsqlqfsep vgiiynpvey
       61 awephrnyvt rycqgpkevl flgmnpgpfg maqtgvpfge vsmvrdwlgi vgpvltppqe
      121 hpkrpvlgle cpqsevsgar fwgffrnlcg qpevffhhcf vhnlcpllfl apsgrnltpa
      181 elpakqreql lgicdaalcr qvqllgvrlv vgvgrlaeqr arralaglmp evqvegllhp
      241 sprnpqankg weavakerln elgllplllk
//
LOCUS       XP_054228703             391 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase R isoform X3 [Homo
            sapiens].
ACCESSION   XP_054228703
VERSION     XP_054228703.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372728.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..391
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..391
                     /product="receptor-type tyrosine-protein phosphatase R
                     isoform X3"
                     /calculated_mol_wt=44051
     CDS             1..391
                     /gene="PTPRR"
                     /gene_synonym="EC-PTP; PCPTP1; PTP-SL; PTPBR7; PTPRQ"
                     /coded_by="XM_054372728.1:2..1177"
                     /db_xref="GeneID:5801"
                     /db_xref="HGNC:HGNC:9680"
                     /db_xref="MIM:602853"
ORIGIN      
        1 mhhkllfalv sllfkskevv qhviqgadvv ggdlkqskei rnnflhtekn rtllpmnqkn
       61 vlqgqheadk iwskegfyav viflsifvii vtclmilyrl kerfqlslrq dkeknqeihl
      121 spitlqpals eaktvhsmvq peqapkvlnv vvdpqgrgap eirattatsv cpspfkmkpi
      181 glqerrgsnv sltldmsslg niepfvsipt prekvameyl qsasriltrs qlrdvvassh
      241 llqsefmeip mnfvdpkeid iprhgtknry ktilpnplsr vclrpknvtd slstyinany
      301 irgysgkeka fiatqgpmin tvddfwqmvw qedspvivmi tklkeknekr rltglapaht
      361 whstfpwakl sgsrcphpmt racagaitpp c
//
LOCUS       XP_054229785             432 aa            linear   PRI 20-MAR-2023
DEFINITION  PC-esterase domain-containing protein 1B isoform X1 [Homo sapiens].
ACCESSION   XP_054229785
VERSION     XP_054229785.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373810.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..432
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..432
                     /product="PC-esterase domain-containing protein 1B isoform
                     X1"
                     /calculated_mol_wt=49596
     CDS             1..432
                     /gene="PCED1B"
                     /gene_synonym="FAM113B"
                     /coded_by="XM_054373810.1:761..2059"
                     /db_xref="GeneID:91523"
                     /db_xref="HGNC:HGNC:28255"
ORIGIN      
        1 millrasevr qllhnkfvvi lgdsvhravy kdlvlllqkd rlltpgqlra rgelnfeqde
       61 lvdggqrghm hnglnyrevr efrsdhhlvr fyfltrvysd ylqtilkelq sgehapdlvi
      121 mnsclwdisr ygpnswrsyl enlenlfqcl gqvlpescll vwntampvge evtggflppk
      181 lrrqkatflk nevvkanfhs atearkhnfd vldlhfhfrh arenlhwdgv hwngrvhrcl
      241 sqlllahvad awgvelphrh pvgewikkkk pgprvegppq anrnhpalpl spplpsptyr
      301 pllgfppqrl pllpllspqp pppilhhqgm prfpqgppda cfssdhtfqs dqfychsdvp
      361 ssahagffve dnfmvgpqlp mpffptpryq rpapvvhrgf gryrprgpyt pwgqrprpsk
      421 rrapanpepr pq
//
LOCUS       XP_054233742             749 aa            linear   PRI 20-MAR-2023
DEFINITION  amyloid-beta A4 precursor protein-binding family A member 2 isoform
            X1 [Homo sapiens].
ACCESSION   XP_054233742
VERSION     XP_054233742.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377767.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..749
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..749
                     /product="amyloid-beta A4 precursor protein-binding family
                     A member 2 isoform X1"
                     /calculated_mol_wt=82381
     CDS             1..749
                     /gene="APBA2"
                     /gene_synonym="D15S1518E; HsT16821; LIN-10; MGC:14091;
                     MINT2; X11-BETA; X11L"
                     /coded_by="XM_054377767.1:669..2918"
                     /db_xref="GeneID:321"
                     /db_xref="HGNC:HGNC:579"
                     /db_xref="MIM:602712"
ORIGIN      
        1 mahrklesvg sgmldhrvrp gpvphsqepe sedmelpleg yvpeglelaa lrpespapee
       61 qechnhspdg dsssdyvnnt seeedydegl peeeegityy irycpeddsy legmdcngee
      121 ylahsahpvd tdecqeavee wtdsagphph gheaegsqdy pdgqlpiped epsvleahdq
      181 eedghycask egyqdyypee angntgaspy rlrrgdgdle dqeedidqiv aeikmslsmt
      241 sitsaseasp ehgpepgped sveacppika scspsrhear pkslnllpea khpgdpqrgf
      301 kpktrtpeer lkwpheqvcn gleqprkqqr sdlngpvdnn nipetkkvas fpsfvavpgp
      361 cepedlidgi ifaanylgst qllsernpsk nirmmqaqea vsrvkrmqka akikkkanse
      421 gdaqtltevd lfistqrikv lnadtqetmm dhalrtisyi adignivvlm arrrmprsas
      481 qdciettpga qegkkqykmi chvfesedaq liaqsigqaf svayqeflra nginpedlsq
      541 keysdiintq emynddlihf snsenckelq lekhkgeilg vvvvesgwgs ilptvilanm
      601 mnggpaarsg klsigdqims ingtslvglp latcqgiikg lknqtqvkln ivscppvttv
      661 likrpdlkyq lgfsvqngii cslmrggiae rggvrvghri ieingqsvva tahekivqal
      721 snsvgeihmk tmpaamfrll tgqetplyi
//
LOCUS       XP_054175253             330 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 241 isoform X2 [Homo sapiens].
ACCESSION   XP_054175253
VERSION     XP_054175253.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319278.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..330
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..330
                     /product="transmembrane protein 241 isoform X2"
                     /calculated_mol_wt=36473
     CDS             1..330
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /coded_by="XM_054319278.1:110..1102"
                     /db_xref="GeneID:85019"
                     /db_xref="HGNC:HGNC:31723"
                     /db_xref="MIM:615430"
ORIGIN      
        1 mcvrrslvgl tfctcylasy ltnkyvlsvl kftyptlfqg wqtligglll hvswklgwve
       61 insssrshvl vwlpasvlfv giiyagsral srlaipvflt lhnvaeviic gyqkcfqkek
      121 tspakicsal fllaaagclp fndsqfnpdg yfwaiihllc vgaykilqks qkpsalsdid
      181 qqylnyifsv vllafashpt gdlfsvldfp flyfyrfhgs ccasgflgff lmfstvklkn
      241 llapgqcaaw iffakswkti mdrllisfle avqvsraqvt ytrglsrski itaglsillf
      301 dailtsattg clllgalgea llvfserkss
//
LOCUS       XP_047302871             500 aa            linear   PRI 20-MAR-2023
DEFINITION  sialic acid-binding Ig-like lectin 5 isoform X2 [Homo sapiens].
ACCESSION   XP_047302871
VERSION     XP_047302871.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047446915.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..500
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..500
                     /product="sialic acid-binding Ig-like lectin 5 isoform X2"
                     /calculated_mol_wt=54965
     Region          21..140
                     /region_name="IgV_CD33"
                     /note="Immunoglobulin Variable (IgV) domain at the
                     N-terminus of CD33 and related Siglecs (sialic
                     acid-binding Ig-like lectins); cd05712"
                     /db_xref="CDD:409377"
     Region          21..45
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409377"
     Region          21..25
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409377"
     Region          28..32
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409377"
     Region          34..45
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409377"
     Region          46..55
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409377"
     Region          56..63
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409377"
     Region          56..63
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409377"
     Region          64..87
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409377"
     Region          74..77
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409377"
     Region          88..121
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409377"
     Region          89..93
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409377"
     Region          99..107
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409377"
     Region          114..122
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409377"
     Site            order(119,128..129)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:409377"
     Region          122..126
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409377"
     Region          127..140
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409377"
     Region          127..140
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409377"
     Region          146..231
                     /region_name="IgC2_CD33_d2_like"
                     /note="Second immunoglobulin domain of Cluster of
                     Differentiation (CD) 33 and related Siglecs; member of the
                     C2-set of IgSF domains; cd20987"
                     /db_xref="CDD:409579"
     Region          146..150
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409579"
     Region          159..165
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409579"
     Region          177..182
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409579"
     Region          196..202
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409579"
     Region          209..216
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409579"
     Region          223..231
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409579"
     Region          254..331
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          265..269
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          278..282
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          300..304
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          311..316
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          326..329
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          <352..425
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          362..366
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          394..398
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          420..423
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..500
                     /gene="SIGLEC5"
                     /coded_by="XM_047446915.1:367..1869"
                     /db_xref="GeneID:8778"
                     /db_xref="HGNC:HGNC:10874"
                     /db_xref="MIM:604200"
ORIGIN      
        1 mlpllllpll wggslqekpv yelqvqksvt vqeglcvlvp csfsypwrsw ysspplyvyw
       61 frdgeipyya eavatnnpdr rvkpetqgrf rllgdvqkkn cslsigdarm edtgsyffrv
      121 ergrdvkysy qqnklnlevt aliekpdihf leplesgrpt rlscslpgsc eagppltfsw
      181 tgnalspldp ettrsseltl tprpedhgtn ltcqmkrqga qvttertvql nvsyapqtit
      241 ifrngialei lqntsylpvl egqalrllcd apsnppahls wfqgspalna tpisntgile
      301 lrrvrsaeeg gftcraqhpl gflqiflnls vyslpqllgp scsweaeglh crcsfrarpa
      361 pslcwrleek plegnssqgs fkvnsssagp wansslilhg glssdlkvsc kawniygsqs
      421 gsvlllqgrs nlgtgvvpaa lggagvmall ciclcliffl mvpgrspgqt apeikhlllg
      481 mplpwknkrs simpplvflr
//
LOCUS       XP_054196074             505 aa            linear   PRI 20-MAR-2023
DEFINITION  abl interactor 2 isoform X7 [Homo sapiens].
ACCESSION   XP_054196074
VERSION     XP_054196074.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340099.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..505
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..505
                     /product="abl interactor 2 isoform X7"
                     /calculated_mol_wt=54454
     CDS             1..505
                     /gene="ABI2"
                     /gene_synonym="ABI-2; ABI2B; AblBP3; AIP-1; AIP1; argBP1;
                     argBPIA; argBPIB; SSH3BP2"
                     /coded_by="XM_054340099.1:122..1639"
                     /db_xref="GeneID:10152"
                     /db_xref="HGNC:HGNC:24011"
                     /db_xref="MIM:606442"
ORIGIN      
        1 maelqmllee eipggrralf dsytnlerva dycennyiqs adkqraleet kayttqslas
       61 vaylintlan nvlqmldiqa sqlrrmessi nhisqtvdih kekvarreig ilttnkntsr
      121 thkiiapanl erpvryirkp idytilddig hgvkvstqnm kmgglprttp ptqkppsppm
      181 sgkgtlgrhs pyrtlepvrp pvvpndyvps ptrnmapsqq spvrtasvnq rnrtyssgss
      241 ggshpssrss srensgsgsv gvpiavptps ppsvfpapag sagtpplpat sasapaplvp
      301 atvpsstapd aaaggaqtla dgftsptppv vsstpptghp vqfysmnrpa srhtpptigg
      361 slpyrrppsi tsqtslqnqm nggpfysqnp vsdtpppppp veepvfdesp ppppppedye
      421 eeeaavveys dpyaeedppw aprsylekvv aiydytkdke delsfqegai iyvikknddv
      481 lktkqaeseq mdlsaiictm lscld
//
LOCUS       XP_054180001             258 aa            linear   PRI 20-MAR-2023
DEFINITION  synapse differentiation-inducing gene protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054180001
VERSION     XP_054180001.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324026.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..258
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..258
                     /product="synapse differentiation-inducing gene protein 1
                     isoform X2"
                     /calculated_mol_wt=28420
     CDS             1..258
                     /gene="SYNDIG1"
                     /gene_synonym="C20orf39; DSPC2; IFITMD5; TMEM90B"
                     /coded_by="XM_054324026.1:1021..1797"
                     /db_xref="GeneID:79953"
                     /db_xref="HGNC:HGNC:15885"
                     /db_xref="MIM:614311"
ORIGIN      
        1 mdgiieqksm lvhskisdag krnglintrn lmaesrdglv svypapqyqs hrvgastvpa
       61 sldssrsepm qqlldpntlq qsvesryrpn iilysegvlr swgdgvaadc cettfiedrs
      121 ptkdsleypd gkfidlsadd ikihtlsydv eeeeefqele sdyssdtese dnflmmpprd
      181 hlglsvfsml ccfwplgiaa fylshetnka vakgdlhqas tssrralfla vlsitigtgv
      241 yvgvavalia ylsknnhl
//
LOCUS       XP_054182167            1198 aa            linear   PRI 20-MAR-2023
DEFINITION  GATOR complex protein DEPDC5 isoform X13 [Homo sapiens].
ACCESSION   XP_054182167
VERSION     XP_054182167.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326192.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1198
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1198
                     /product="GATOR complex protein DEPDC5 isoform X13"
                     /calculated_mol_wt=134899
     CDS             1..1198
                     /gene="DEPDC5"
                     /gene_synonym="DEP.5; FFEVF; FFEVF1"
                     /coded_by="XM_054326192.1:208..3804"
                     /db_xref="GeneID:9681"
                     /db_xref="HGNC:HGNC:18423"
                     /db_xref="MIM:614191"
ORIGIN      
        1 mrttkvyklv ihkkgfggsd delvvnpkvf phiklgdive iahpndeysp lllqvkslke
       61 dlqketisvd qtvtqvfrlr pyqdvyvnvv dpkdvtldlv eltfkdqyig rgdmwrlkks
      121 lvstcayitq kvefagiraq agelwvknek vmcgyisedt rvvfrstsam vyifiqmsce
      181 mwdfdiygdl yfekavngfl adlftkwkek ncshevtvvl fsrtfydaks vdefpeinra
      241 sirqdhkgrf yedfykvvvq nerreewtsl lvtikklfiq ypvlvrleqa egfpqgdnst
      301 saqgnyleai nlsfnvfdkh yinrnfdrtg qmsvvitpgv gvfevdrllm iltkqrmidn
      361 gigvdlvcmg eqplhavplf klhnrsaprd srlgddynip hwinhsfyts ksqlfcnsft
      421 priklagkkp asekakngrd tslgspkese nalpiqvdyd aydaqvfrlp gpsraqcltt
      481 crsvreresh srksasscdv ssspslpsrt lpteevrsqa sddsslgksa nilmiphphl
      541 hqyevssslg ytstrdvlen mmeppqrdss apgrfhvgsa esmlhvrpgg ytpqralinp
      601 fapsrmpmkl tsnrrrwmht fpvgpsgeai qihhqtrqnm aelqgsgqrd pthssaelle
      661 layheaagrh snsrqpgdgm sflnfsgtee lsvgllsnsg agmnprtqnk dsledsvsts
      721 pdpiltlsap pvvpgfcctv gvdwkslttp aclplttdyf pdrqglqndy tegcydllpe
      781 adidrrdedg vqmtaqqvfe eficqrlmqg yqiivqpktq kpnpavpppl sssplysrgl
      841 vsrnrpeeed qywlsmgrtf hkvtlkdkmi tvtrylpkyp yesaqihyty slcpshsdse
      901 fvscwvefsh erleeykwny ldqyicsags edfslieslk fwrtrflllp acvtatkrit
      961 egeahcdiyg drpradedew qlldgfvrfv eglnrirrrh rsdrmmrkgt amkglqmtgp
     1021 isthslesta ppvgkkgtsa lsallemeas qkclgeqqaa vhggkssaqs aesssvamtp
     1081 tymdsprkdg affmefvrsp rtassafypq vsvdqtatpm ldgtslgict gqsmdrgnsq
     1141 tfgnsqnige qgysstnssd srkwrlflif vlltayvpsc fadltpcvta lsswwqap
//
LOCUS       XP_054200811             991 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein 6 isoform X3 [Homo sapiens].
ACCESSION   XP_054200811
VERSION     XP_054200811.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344836.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..991
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..991
                     /product="RNA-binding protein 6 isoform X3"
                     /calculated_mol_wt=113799
     CDS             1..991
                     /gene="RBM6"
                     /gene_synonym="3G2; DEF-3; DEF3; g16; HLC-11; NY-LU-12"
                     /coded_by="XM_054344836.1:560..3535"
                     /db_xref="GeneID:10180"
                     /db_xref="HGNC:HGNC:9903"
                     /db_xref="MIM:606886"
ORIGIN      
        1 mdyrggdgts mdyrgreaph mnyrdrdaha vdfrgrdapp sdfrgrgtyd ldfrgrdgsh
       61 adfrgrdlsd ldfrareqsr sdfrnrdvsd ldfrdkdgtq vdfrgrgsgt tdldfrdrdt
      121 phsdfrgrhr srtdqdfrgr emgscmefkd remppvdpni ldyiqpstqd rehsgmnvnr
      181 reesthdhti erpafgiqkg efehsetreg etqgvafehe spadfqnsqs pvqdqdksql
      241 sgreeqssda glfkeeggld flgrqdtdyr smeyrdvdhr lpgsqmfgyg qsksfpegkt
      301 ardaqrdlqd qdyrtgpsee kpsrlirlsg vpedatkeei lnafrtpdgm pvknlqlkey
      361 ntgydygyvc vefslledai gcmeanqgtl miqdkevtle yvssldfwyc krckaniggh
      421 rsscsfcknp revteakqel itypqpqkts ipaplekqpn qplrpadkep eprkreegqe
      481 srlghqkrea erylppsrre gptfrrdrer eswsgetrqd gesktimlkr iyrstppevi
      541 vevlepyvrl ttanvriikn rtgpmghtyg fidldshaea lrvvkilqnl dppfsidgkm
      601 vavnlatgkr rndsgdhsdh mhyyqgkkyf rdrrgggrns dwssdtnrqg qqsssdcyiy
      661 dsatgyyydp lagtyydpnt qqevyvpqdp glpeeeeike kkptsqgkss skkemskrdg
      721 kekkdrgvtr fqenasegka paedvfkkpl pptvkkeesp pppkvvnpli gllgeyggds
      781 dyeeeeeeeq tpppqprtaq pqkreeqtkk eneedkltdw nklacllcrr qfpnkevlik
      841 hqqlsdlhkq nleihrkikq seqelayler reregkfkgr gndrreklqs fdsperkrik
      901 ysretdsdrk lvdkedidts skggcvqqat gwrkgtglgy ghpglassee aegrmrgpsv
      961 gasgrtskrq snetyrdavr rvmfarykel d
//
LOCUS       XP_054203378             536 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 191 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054203378
VERSION     XP_054203378.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347403.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..536
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..536
                     /product="coiled-coil domain-containing protein 191
                     isoform X5"
                     /calculated_mol_wt=62464
     CDS             1..536
                     /gene="CCDC191"
                     /gene_synonym="KIAA1407"
                     /coded_by="XM_054347403.1:56..1666"
                     /db_xref="GeneID:57577"
                     /db_xref="HGNC:HGNC:29272"
ORIGIN      
        1 milgkktewq hwhgaellkr elaltkeetr kkmdallqaa slgklsangl sgislpeeat
       61 amvgppvkng qetavpplwe kpplgssgcm lspplgrttt gnlqgslqnv slsapgnkqh
      121 ktlgaepsqq pgsnetlrtt sqkaeplclg hfhnrhvfqq qliekqkkkl qeqqktilel
      181 kknlqlaeaq waaehalavt eaqshllskp reeeprtcqm lvnspvaspg tegrsdsrns
      241 lsglrrkpkq lmtphpilka meeraiqrae crrilaekkk kqeeeklaql kaqeeerqkr
      301 eaeekeaqle rkreekrlkk mkelekqkri krnqqleaia kehyervllr kkglepwkrl
      361 rmqskqniqv aeehyslflq rkymltwfqr sqeslarkma qadqfysqil lkrviqswlq
      421 yvidlqeevr kfcvhflqkk ifrawfnmvr evkidsqgkh eiaaehsdrr ilwitlrtwk
      481 kfvkfmkeer vkeerrqqlr rkvveilpdf qvpgryhely qqsdtwslsk tslvne
//
LOCUS       XP_054207497             892 aa            linear   PRI 20-MAR-2023
DEFINITION  A disintegrin and metalloproteinase with thrombospondin motifs 6
            isoform X4 [Homo sapiens].
ACCESSION   XP_054207497
VERSION     XP_054207497.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351522.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..892
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..892
                     /product="A disintegrin and metalloproteinase with
                     thrombospondin motifs 6 isoform X4"
                     /calculated_mol_wt=99836
     CDS             1..892
                     /gene="ADAMTS6"
                     /gene_synonym="ADAM-TS 6; ADAM-TS6; ADAMTS-6"
                     /coded_by="XM_054351522.1:453..3131"
                     /db_xref="GeneID:11174"
                     /db_xref="HGNC:HGNC:222"
                     /db_xref="MIM:605008"
ORIGIN      
        1 meilwktltw ilslimasse fhsdhrlsys sqeefltyle hyqltipirv dqngaflsft
       61 vkndkhsrrr rsmdpidpqq avsklffkls aygkhfhlnl tlntdfvskh ftveywgkdg
      121 pqwkhdfldn chytgylqdq rsttkvalsn cvglhgviat edeeyfiepl knttedskhf
      181 syenghphvi ykksalqqrh lydhshcgvs dftrsgkpww lndtstvsys lpinnthihh
      241 rqkrsvsier fvetlvvadk mmvgyhgrkd iehyilsvmn ivaklyrdss lgnvvniiva
      301 rlivltedqp nleinhhadk sldsfckwqk silshqsdgn tipengiahh dnavlitryd
      361 ictyknkpcg tlglasvagm ceperscsin ediglgsaft iaheighnfg mnhdgignsc
      421 gtkgheaakl maahitantn pfswsacsrd yitsfldsgr gtcldneppk rdflypavap
      481 gqvydadeqc rfqygatsrq ckygevcrel wclsksnrcv tnsipaaegt lcqtgniekg
      541 wcyqgdcvpf gtwpqsidgg wgpwslwgec srtcgggvss slrhcdspap sgggkyclge
      601 rkryrscntd pcplgsrdfr ekqcadfdnm pfrgkyynwk pytgggvkpc alnclaegyn
      661 fyterapavi dgtqcnadsl dicingeckh vgcdnilgsd aredrcrvcg gdgstcdaie
      721 gffndslprg gymevvqipr gsvhievrev amsknyialk segddyying awtidwprkf
      781 dvagtafhyk rptdepesle algptsenli vmvllqeqnl girykfnvpi trtgsgdnev
      841 gftwnhqpws ecsatcagva tnailylwlg eqdswlpskp tplllhglgi it
//
LOCUS       XP_054212113             477 aa            linear   PRI 20-MAR-2023
DEFINITION  ectonucleotide pyrophosphatase/phosphodiesterase family member 5
            isoform X1 [Homo sapiens].
ACCESSION   XP_054212113
VERSION     XP_054212113.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356138.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..477
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..477
                     /product="ectonucleotide pyrophosphatase/phosphodiesterase
                     family member 5 isoform X1"
                     /calculated_mol_wt=54535
     CDS             1..477
                     /gene="ENPP5"
                     /gene_synonym="NPP-5; NPP5"
                     /coded_by="XM_054356138.1:214..1647"
                     /db_xref="GeneID:59084"
                     /db_xref="HGNC:HGNC:13717"
                     /db_xref="MIM:617001"
ORIGIN      
        1 mtskfllvsf ilaalslstt fslqpdqqkv llvsfdgfrw dylykvptph fhyimkygvh
       61 vkqvtnvfit ktypnhytlv tglfaenhgi vandmfdpir nksfsldhmn iydskfweea
      121 tpiwitnqra ghtsgaamwp gtdvkihkrf pthympynes vsfedrvaki iewftskepi
      181 nlgllywedp ddmghhlgpd splmgpvisd idkklgyliq mlkkaklwnt lnliitsdhg
      241 mtqcseerli eldqyldkdh ytlidqspva ailpkegkfd evyealthah pnltvykked
      301 vperwhykyn sriqpiiava degwhilqnk sddfllgnhg ydnaladmhp iflahgpafr
      361 knfskeamns tdlypllchl lnitamphng sfwnvqdlln samprvvpyt qstillpgsv
      421 kpaeydqegs ypyfigvslg siivivffvi fikhlihsqi palqdmhaei aqpllqa
//
LOCUS       XP_054213713             387 aa            linear   PRI 20-MAR-2023
DEFINITION  HEPACAM family member 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054213713
VERSION     XP_054213713.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357738.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..387
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..387
                     /product="HEPACAM family member 2 isoform X1"
                     /calculated_mol_wt=42932
     CDS             1..387
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /coded_by="XM_054357738.1:220..1383"
                     /db_xref="GeneID:253012"
                     /db_xref="HGNC:HGNC:27364"
                     /db_xref="MIM:614133"
ORIGIN      
        1 mpkyllgsvn ksvvpdleyq hkftmmppna sllinplqfp degnyivkvn iqgngtlsas
       61 qkiqvtvddp vtkpvvqihp psgaveyvgn mtltchvegg trlayqwlkn grpvhtssty
      121 sfspqnntlh iapvtkedig nysclvrnpv semesdiimp iiyygpyglq vnsdkglkvg
      181 evftvdlgea ilfdcsadsh ppntyswirr tdnttyiikh gprlevasek vaqktmdyvc
      241 caynnitgrq dethftviit svgleklaqk gkslsplasi tgislfliis mcllflwkky
      301 qpykvikqkl egrpeteyrk aqtfsgheda lddfgiyefv afpdvsgvsr ipsrsvpasd
      361 cvsgqdlhst vyeviqhipa qqqdhpe
//
LOCUS       XP_054214493            1156 aa            linear   PRI 20-MAR-2023
DEFINITION  condensin-2 complex subunit G2 isoform X1 [Homo sapiens].
ACCESSION   XP_054214493
VERSION     XP_054214493.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358518.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1156
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1156
                     /product="condensin-2 complex subunit G2 isoform X1"
                     /calculated_mol_wt=132065
     CDS             1..1156
                     /gene="NCAPG2"
                     /gene_synonym="3KS; CAP-G2; CAPG2; hCAP-G2; LUZP5; MTB"
                     /coded_by="XM_054358518.1:174..3644"
                     /db_xref="GeneID:54892"
                     /db_xref="HGNC:HGNC:21904"
                     /db_xref="MIM:608532"
ORIGIN      
        1 mekretfvqa vskelvgefl qfvqldkeas dpfslnelld elsrkqkeel wqrlknlltd
       61 vllespvdgw qvveaqgedn metehgskmr ksieiiyait svilasvsvi nesenyeall
      121 ecviilngil yalpeserkl qssiqdlcvt wwekglpake dtgktafvml lrrsletktg
      181 advcrlwrih qalycfdydl eesgeikdml lecfininyi kkeegrrfls clfnwninfi
      241 kmihgtiknq lqglqkslmv yiaeiyfraw kkasgkilea iendciqdfm fhgihlprrs
      301 pvhskvrevl syfhhqkkvr qgveemlyrl ykpilwrglk arnsevrsna allfveafpi
      361 rdpnlhaiem dseiqkqfee lyslledpyp mvrstgilgv ckitskywem mpptilidll
      421 kkvtgelafd tssadvrcsv fkclpmildn klshplleql lpalryslhd nsekvrvafv
      481 dmllkikavr aakfwkicpm ehilvrletd srpvsrrlvs lifnsflpvn qpeevwcerc
      541 vtlvqmnhaa arrfyqyahe htactniakl ihvirhclna ciqravrepp edeeeedgre
      601 kenvtvldkt lsvndvacma glleiivilw ksidrsmenn keaklytink fasvlpeylk
      661 vfkddrckip lfmlmsfmpa savppfscgv istlrsreeg avdksyctll dclcswgqvg
      721 hilelvdnwl ptehaqaksn taskgrvqih dtrpvkpela lvyieyllth pknrecllsa
      781 prkklnhllk aletskadle sllqtpggkp rgfseaaapr afglhcrlsi hlqhkfcseg
      841 kvylsmledt gfwleskils fiqdqeedyl klhrviyqqi iqtyltvckd vvmvglgdhq
      901 fqmqllqrsl gimqtvkgff yvsllldilk eitgssliqk tdsdeevaml ldtvqkvfqk
      961 mleciarsfr kqpeeglrll ysvqrplhef itavqsrhtd tpvhrgvlst liagpvveis
     1021 hqlrkvsdve eltppehlsd lppfsrclig iiikssnvvr sfldelkacv asndiegivc
     1081 ltaavhiilv inagkhkssk vrevaatvhr klktfmeitl eedsieryed llccpgwalt
     1141 pglldsiyps asvpig
//
LOCUS       XP_054219020            1589 aa            linear   PRI 20-MAR-2023
DEFINITION  pappalysin-1 isoform X1 [Homo sapiens].
ACCESSION   XP_054219020
VERSION     XP_054219020.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363045.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1589
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1589
                     /product="pappalysin-1 isoform X1"
                     /calculated_mol_wt=176397
     CDS             1..1589
                     /gene="PAPPA"
                     /gene_synonym="ASBABP2; DIPLA1; IGFBP-4ase; PAPA; PAPP-A;
                     PAPPA1"
                     /coded_by="XM_054363045.1:383..5152"
                     /db_xref="GeneID:5069"
                     /db_xref="HGNC:HGNC:8602"
                     /db_xref="MIM:176385"
ORIGIN      
        1 mrlwswvlhl gllsaalgcg laerprrarr dpragrpprp aagpatcatr aargrraspp
       61 pppppggawe avrvprrrqq reargateep sppsralyfs grgeqlrlra dlelprdaft
      121 lqvwlraegg qrspavitgl ydkcsyisrd rgwvvgihti sdqdnkdpry ffslktdrar
      181 qvttinahrs ylpgqwvyla atydgqfmkl yvngaqvats geqvggifsp ltqkckvlml
      241 ggsalnhnyr gyiehfslwk vartqreils dmethgahta lpqlllqenw dnvkhawspm
      301 kdgsspkvef snahgflldt slepplcgqt lcdntevias ynqlssfrqp kvvryrvvnl
      361 yeddhknptv treqvdfqhh qlaeafkqyn isweldvlev snsslrrrli lancdiskig
      421 dencdpecnh tltghdggdc rhlrhpafvk kqhngvcdmd cnyerfnfdg geccdpeitn
      481 vtqtcfdpds phrayldvne lknilkldgs thlniffaks seeelagvat wpwdkealmh
      541 lggivlnpsf ygmpghthtm iheighslgl yhvfrgisei qscsdpcmet epsfetgdlc
      601 ndtnpapkhk scgdpgpgnd tcgfhsffnt pynnfmsyad ddctdsftpn qvarmhcyld
      661 lvyqgwqpsr kpapvalapq vlghttdsvt lewfppidgh fferelgsac hlclegrilv
      721 qyasnasspm pcspsghwsp reaeghpdve qpckssvrtw spnsavnpht vppacpepqg
      781 cyleleflyp lvpesltiwv tfvstdwdss gavndiklla vsgknislgp qnvfcdvplt
      841 irlwdvgeev ygiqiytlde hleidaamlt stadtplclq ckplkykvvr dpplqmdvas
      901 ilhlnrkfvd mdlnlgsvyq ywvitisgte esepspavty ihgsgycgdg iiqkdqgeqc
      961 ddmnkingdg cslfcrqevs fncidepsrc yfhdgdgvce efeqktsikd cgvytpqgfl
     1021 dqwasnasvs hqdqqcpgwv iigqpaasqa yfsqpmvaaa vivhlvtdgt yygdqkqeti
     1081 svqlldtkdq shdlglhvls crnnpliipv vhdlsqpfyh sqavrvsfss plvaisgval
     1141 rsfdnfdpvt lsscqrgety spaeqscvhf acektdcpel avenaslncs ssdryhgaqc
     1201 tvscrtgyvl qirrddelik sqtgpsvtvt ctegkwnkqv acepvdcsip dhhqvyaasf
     1261 scpegttfgs qcsfqcrhpa qlkgnnsllt cmedglwsfp ealcelmcla pppvpnadlq
     1321 tarcrenkhk vgsfckykck pgyhvpgssr kskkrafktq ctqdgswqeg acvpvtcdpp
     1381 ppkfhglyqc tngfqfnsec rikcedsdas qglgsnvihc rkdgtwngsf hvcqemqgqc
     1441 svpnelnsnl klqcpdgyai gsecatscld hnsesiilpm nvtvrdiphw lnptrvervv
     1501 ctaglkwyph palihcvkgc epfmgdnycd ainnrafcny dggdcctstv ktkkvtpfpm
     1561 scdlqgdcac rdpqaqehsr kdlrgyshg
//
LOCUS       XP_054182832             363 aa            linear   PRI 20-MAR-2023
DEFINITION  glycine receptor subunit alpha-2 isoform X4 [Homo sapiens].
ACCESSION   XP_054182832
VERSION     XP_054182832.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326857.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..363
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..363
                     /product="glycine receptor subunit alpha-2 isoform X4"
                     /calculated_mol_wt=41871
     CDS             1..363
                     /gene="GLRA2"
                     /gene_synonym="GLR; MRXSP"
                     /coded_by="XM_054326857.1:130..1221"
                     /db_xref="GeneID:2742"
                     /db_xref="HGNC:HGNC:4327"
                     /db_xref="MIM:305990"
ORIGIN      
        1 mdyrvniflr qqwndsrlay seypddsldl dpsmldsiwk pdlffanekg anfhdvttdn
       61 kllriskngk vlysirltlt lscpmdlknf pmdvqtctmq lesfgytmnd lifewlsdgp
      121 vqvaegltlp qfilkeekel gyctkhyntg kftcievkfh lerqmgyyli qmyipslliv
      181 ilswvsfwin mdaaparval gittvltmtt qssgsraslp kvsyvkaidi wmavcllfvf
      241 aalleyaavn fvsrqhkefl rlrrrqkrqn keedvtresr fnfsgygmgh clqvkdgtav
      301 katpanplpq ppkdgdaikk kfvdrakrid tisraafpla flifnifywi tykiirhedv
      361 hkk
//
LOCUS       NP_001369708             674 aa            linear   PRI 05-APR-2023
DEFINITION  F-box/LRR-repeat protein 19 isoform 4 [Homo sapiens].
ACCESSION   NP_001369708
VERSION     NP_001369708.1
DBSOURCE    REFSEQ: accession NM_001382779.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 674)
  AUTHORS   Dong H, Huang C and Huang J.
  TITLE     FBXL19-AS1 promotes the progression of nasopharyngeal carcinoma by
            acting as a competing endogenous RNA to sponge miR-431 and
            upregulate PBOV1
  JOURNAL   Mol Med Rep 24 (3) (2021)
   PUBMED   34278444
  REMARK    GeneRIF: FBXL19AS1 promotes the progression of nasopharyngeal
            carcinoma by acting as a competing endogenous RNA to sponge miR431
            and upregulate PBOV1.
REFERENCE   2  (residues 1 to 674)
  AUTHORS   Wang L, Zhang X, Liu Y and Xu S.
  TITLE     Long noncoding RNA FBXL19-AS1 induces tumor growth and metastasis
            by sponging miR-203a-3p in lung adenocarcinoma
  JOURNAL   J Cell Physiol 235 (4), 3612-3625 (2020)
   PUBMED   31566718
  REMARK    GeneRIF: Long noncoding RNA FBXL19-AS1 induces tumor growth and
            metastasis by sponging miR-203a-3p in lung adenocarcinoma.
REFERENCE   3  (residues 1 to 674)
  AUTHORS   Xu C, Liu K, Lei M, Yang A, Li Y, Hughes TR and Min J.
  TITLE     DNA Sequence Recognition of Human CXXC Domains and Their Structural
            Determinants
  JOURNAL   Structure 26 (1), 85-95 (2018)
   PUBMED   29276034
REFERENCE   4  (residues 1 to 674)
  AUTHORS   Dong S, Zhao J, Wei J, Bowser RK, Khoo A, Liu Z, Luketich JD,
            Pennathur A, Ma H and Zhao Y.
  TITLE     F-box protein complex FBXL19 regulates TGFbeta1-induced E-cadherin
            down-regulation by mediating Rac3 ubiquitination and degradation
  JOURNAL   Mol Cancer 13, 76 (2014)
   PUBMED   24684802
  REMARK    GeneRIF: Collectively these data unveil that FBXL19 functions as an
            antagonist of Rac3 by regulating its stability and regulates the
            TGFbeta1-induced E-cadherin down-regulation.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 674)
  AUTHORS   Zhao J, Mialki RK, Wei J, Coon TA, Zou C, Chen BB, Mallampalli RK
            and Zhao Y.
  TITLE     SCF E3 ligase F-box protein complex SCF(FBXL19) regulates cell
            migration by mediating Rac1 ubiquitination and degradation
  JOURNAL   FASEB J 27 (7), 2611-2619 (2013)
   PUBMED   23512198
REFERENCE   6  (residues 1 to 674)
  AUTHORS   Chandran V.
  TITLE     The genetics of psoriasis and psoriatic arthritis
  JOURNAL   Clin Rev Allergy Immunol 44 (2), 149-156 (2013)
   PUBMED   22274791
  REMARK    Review article
REFERENCE   7  (residues 1 to 674)
  AUTHORS   Stuart PE, Nair RP, Ellinghaus E, Ding J, Tejasvi T, Gudjonsson JE,
            Li Y, Weidinger S, Eberlein B, Gieger C, Wichmann HE, Kunz M, Ike
            R, Krueger GG, Bowcock AM, Mrowietz U, Lim HW, Voorhees JJ,
            Abecasis GR, Weichenthal M, Franke A, Rahman P, Gladman DD and
            Elder JT.
  TITLE     Genome-wide association analysis identifies three psoriasis
            susceptibility loci
  JOURNAL   Nat Genet 42 (11), 1000-1004 (2010)
   PUBMED   20953189
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (residues 1 to 674)
  AUTHORS   Ebstein F, Lange N, Urban S, Seifert U, Kruger E and Kloetzel PM.
  TITLE     Maturation of human dendritic cells is accompanied by functional
            remodelling of the ubiquitin-proteasome system
  JOURNAL   Int J Biochem Cell Biol 41 (5), 1205-1215 (2009)
   PUBMED   19028597
REFERENCE   9  (residues 1 to 674)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of FBXL19 gene in silico
  JOURNAL   Int J Mol Med 14 (6), 1109-1114 (2004)
   PUBMED   15547684
REFERENCE   10 (residues 1 to 674)
  AUTHORS   Jin,J., Cardozo,T., Lovering,R.C., Elledge,S.J., Pagano,M. and
            Harper,J.W.
  TITLE     Systematic analysis and nomenclature of mammalian F-box proteins
  JOURNAL   Genes Dev 18 (21), 2573-2580 (2004)
   PUBMED   15520277
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135048.2.
            
            Summary: This gene encodes a member of the Skp1-Cullin-F-box family
            of E3 ubiquitin ligases. The encoded protein is reported to bind to
            the transmembrane receptor interleukin 1 receptor-like 1 and
            regulate its ubiquitination and degradation. This protein has been
            linked to the regulation of pulmonary inflammation and psoriasis.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Aug 2013].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR4352444.330220.1,
                                           ERR4352443.631166.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338343.10/ ENSP00000339712.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..674
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     Protein         1..674
                     /product="F-box/LRR-repeat protein 19 isoform 4"
                     /note="jumonji C domain-containing histone demethylase 1C;
                     F-box/LRR-repeat protein 19"
                     /calculated_mol_wt=73640
     Region          <30..57
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     Region          67..128
                     /region_name="PHD_FXL19"
                     /note="PHD finger found in F-box and leucine-rich repeat
                     protein 19 (FBXL19); cd15645"
                     /db_xref="CDD:277115"
     Site            order(67,90..94,98,123)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277115"
     Region          401..443
                     /region_name="F-box_JHDM"
                     /note="F-box domain found in the JmjC domain-containing
                     histone demethylation protein (JHDM) family; cd22122"
                     /db_xref="CDD:438894"
     Site            order(404..405,407..409,411..412,414..416,418..419,
                     422..423,425..427,431)
                     /site_type="other"
                     /note="Skp1 binding site [polypeptide binding]"
                     /db_xref="CDD:438894"
     Region          441..465
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          446..645
                     /region_name="AMN1"
                     /note="Antagonist of mitotic exit network protein 1;
                     cd09293"
                     /db_xref="CDD:187754"
     Region          466..488
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          490..513
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          514..553
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          554..578
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          579..603
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          609..633
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          634..666
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     CDS             1..674
                     /gene="FBXL19"
                     /gene_synonym="CXXC11; Fbl19; JHDM1C"
                     /coded_by="NM_001382779.1:913..2937"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS92142.1"
                     /db_xref="GeneID:54620"
                     /db_xref="HGNC:HGNC:25300"
                     /db_xref="MIM:609085"
ORIGIN      
        1 mssssrgpga garrrrtrcr rcracvrtec gdchfcrdmk kfggpgrmkq scllrqctap
       61 vlphtavcll cgeagkedtv egeeekfgls lmecticnei vhpgclkmgk aegvinaeip
      121 ncwecprctq egrtskdsge gpgrrradng eegaslgsgw klteepplpp ppprrkgplp
      181 agpppedvpg ppkrkereag nepptprkkv kggrerhlkk vggdacllrg sdpggpgllp
      241 prvlnpsqaf sschpglppe nwekpkppla saegpavpsp spqreklerf krmcqllerv
      301 pdtsssssds dsdsdssgts lsedeapgea rngrrpargs sgekenrggr ravrpgsggp
      361 llswplgpap pprppqlerh vvrppprspe pdtlplaags dhplpraawl rvfqhlgpre
      421 lcicmrvcrt wsrwcydkrl wprmdlsrrk sltppmlsgv vrrqpraldl swtgvskkql
      481 mwllnrlqgl qelvlsgcsw lsvsalgsap lpalrlldlr wiedvkdsql relllpppdt
      541 kpgqtesrgr lqgvaelrla gleltdaslr lllrhapqls aldlshcahv gdpsvhllta
      601 ptsplretlv hlnlagchrl tdhclplfrr cprlrrldlr scrqlspeac arlaaagppg
      661 pfrcpeekll lkds
//
LOCUS       NP_068734                149 aa            linear   PRI 12-SEP-2020
DEFINITION  zinc finger protein 69 isoform 2 [Homo sapiens].
ACCESSION   NP_068734
VERSION     NP_068734.1
DBSOURCE    REFSEQ: accession NM_021915.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 149)
  AUTHORS   Aubry M, Marineau C, Zhang FR, Zahed L, Figlewicz D, Delattre O,
            Thomas G, de Jong PJ, Julien JP and Rouleau GA.
  TITLE     Cloning of six new genes with zinc finger motifs mapping to short
            and long arms of human acrocentric chromosome 22 (p and q11.2)
  JOURNAL   Genomics 13 (3), 641-648 (1992)
   PUBMED   1639391
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008770.7, BG393583.1, BC051309.1 and AW132096.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no quality transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC051309.1, SRR1803615.420293.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..149
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     Protein         1..149
                     /product="zinc finger protein 69 isoform 2"
                     /note="ZNF3"
                     /calculated_mol_wt=17267
     Region          <22..50
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     CDS             1..149
                     /gene="ZNF69"
                     /gene_synonym="Cos5; hZNF3"
                     /coded_by="NM_021915.4:143..592"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS32914.1"
                     /db_xref="GeneID:7620"
                     /db_xref="HGNC:HGNC:13138"
                     /db_xref="MIM:194543"
ORIGIN      
        1 mpccshrrcr edpgtsesqe meewalldis qrklykevml etfrnltsvg kswkdqniey
       61 eyqnprrnfr sliekkvnei kddshcgetf tqvpddrlnf qekkaspeik scdsfvcgev
      121 glgnssfnmn irgdighkay eyqeygpkp
//
LOCUS       NP_004431                998 aa            linear   PRI 17-DEC-2022
DEFINITION  ephrin type-A receptor 7 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_004431
VERSION     NP_004431.1
DBSOURCE    REFSEQ: accession NM_004440.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 998)
  AUTHORS   Zhang W, Cao H, Yang J, Zhao J, Liang Z, Kang X and Wang R.
  TITLE     The identification and validation of EphA7 hypermethylation, a
            novel biomarker, in cervical cancer
  JOURNAL   BMC Cancer 22 (1), 636 (2022)
   PUBMED   35681118
  REMARK    GeneRIF: The identification and validation of EphA7
            hypermethylation, a novel biomarker, in cervical cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 998)
  AUTHORS   Salokas K, Liu X, Ohman T, Chowdhury I, Gawriyski L, Keskitalo S
            and Varjosalo M.
  TITLE     Physical and functional interactome atlas of human receptor
            tyrosine kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   3  (residues 1 to 998)
  AUTHORS   Levy J, Schell B, Nasser H, Rachid M, Ruaud L, Couque N, Callier P,
            Faivre L, Marle N, Engwerda A, van Ravenswaaij-Arts CMA, Plutino M,
            Karmous-Benailly H, Benech C, Redon S, Boute O, Boudry Labis E,
            Rama M, Kuentz P, Assoumani J, Maldergem LV, Dupont C, Verloes A
            and Tabet AC.
  TITLE     EPHA7 haploinsufficiency is associated with a neurodevelopmental
            disorder
  JOURNAL   Clin Genet 100 (4), 396-404 (2021)
   PUBMED   34176129
  REMARK    GeneRIF: EPHA7 haploinsufficiency is associated with a
            neurodevelopmental disorder.
REFERENCE   4  (residues 1 to 998)
  AUTHORS   Chakraborty S and Varma AK.
  TITLE     Crystal structure of clinically reported mutations Gly656Arg,
            Gly656Glu and Asp751His identified in the kinase domain of EphA7
  JOURNAL   Biochem Biophys Res Commun 568, 62-67 (2021)
   PUBMED   34186436
  REMARK    GeneRIF: Crystal structure of clinically reported mutations
            Gly656Arg, Gly656Glu and Asp751His identified in the kinase domain
            of EphA7.
REFERENCE   5  (residues 1 to 998)
  AUTHORS   Tu Y, Cai Q, Zhu X and Xu M.
  TITLE     Down-regulation of HCP5 inhibits cell proliferation, migration, and
            invasion through regulating EPHA7 by competitively binding miR-101
            in osteosarcoma
  JOURNAL   Braz J Med Biol Res 54 (2), e9161 (2021)
   PUBMED   33439936
  REMARK    GeneRIF: Down-regulation of HCP5 inhibits cell proliferation,
            migration, and invasion through regulating EPHA7 by competitively
            binding miR-101 in osteosarcoma.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 998)
  AUTHORS   Zhou R.
  TITLE     The Eph family receptors and ligands
  JOURNAL   Pharmacol Ther 77 (3), 151-181 (1998)
   PUBMED   9576626
  REMARK    Review article
REFERENCE   7  (residues 1 to 998)
  AUTHORS   Flanagan JG and Vanderhaeghen P.
  TITLE     The ephrins and Eph receptors in neural development
  JOURNAL   Annu Rev Neurosci 21, 309-345 (1998)
   PUBMED   9530499
  REMARK    Review article
REFERENCE   8  (residues 1 to 998)
  AUTHORS   Ciossek T and Ullrich A.
  TITLE     Identification of Elf-1 and B61 as high affinity ligands for the
            receptor tyrosine kinase MDK1
  JOURNAL   Oncogene 14 (1), 35-43 (1997)
   PUBMED   9010230
REFERENCE   9  (residues 1 to 998)
  AUTHORS   Gale NW, Holland SJ, Valenzuela DM, Flenniken A, Pan L, Ryan TE,
            Henkemeyer M, Strebhardt K, Hirai H, Wilkinson DG, Pawson T, Davis
            S and Yancopoulos GD.
  TITLE     Eph receptors and ligands comprise two major specificity subclasses
            and are reciprocally compartmentalized during embryogenesis
  JOURNAL   Neuron 17 (1), 9-19 (1996)
   PUBMED   8755474
REFERENCE   10 (residues 1 to 998)
  AUTHORS   Fox GM, Holst PL, Chute HT, Lindberg RA, Janssen AM, Basu R and
            Welcher AA.
  TITLE     cDNA cloning and tissue distribution of five human EPH-like
            receptor protein-tyrosine kinases
  JOURNAL   Oncogene 10 (5), 897-905 (1995)
   PUBMED   7898931
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA503795.1, AB209269.1,
            AL591036.8, L36642.1, BC126125.1 and AL354857.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene belongs to the ephrin receptor subfamily of the
            protein-tyrosine kinase family. EPH and EPH-related receptors have
            been implicated in mediating developmental events, particularly in
            the nervous system. Receptors in the EPH subfamily typically have a
            single kinase domain and an extracellular region containing a
            Cys-rich domain and 2 fibronectin type III repeats. The ephrin
            receptors are divided into 2 groups based on the similarity of
            their extracellular domain sequences and their affinities for
            binding ephrin-A and ephrin-B ligands. Increased expression of this
            gene is associated with multiple forms of carcinoma. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Dec 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.203281.1,
                                           SRR1660803.257326.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369303.9/ ENSP00000358309.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..998
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q16.1"
     Protein         1..998
                     /product="ephrin type-A receptor 7 isoform 1 precursor"
                     /EC_number="2.7.10.1"
                     /note="ephrin type-A receptor 7; tyrosine-protein kinase
                     receptor EHK-3; Eph homology kinase-3; receptor
                     protein-tyrosine kinase HEK11; EPH-like kinase 11; EPH
                     homology kinase 3"
                     /calculated_mol_wt=108799
     sig_peptide     1..27
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3316
     mat_peptide     28..998
                     /product="Ephrin type-A receptor 7. /id=PRO_0000016818"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15375.3)"
                     /calculated_mol_wt=108799
     Region          30..206
                     /region_name="EphR_LBD_A7"
                     /note="Ligand Binding Domain of Ephrin type-A Receptor 7;
                     cd10485"
                     /db_xref="CDD:198453"
     Site            order(56,58..62,69..70,72,74,105,107,112..113,155,
                     159..160,163..165,192..194,196)
                     /site_type="other"
                     /note="ephrin binding site [polypeptide binding]"
                     /db_xref="CDD:198453"
     Region          332..438
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(332,407,420)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            343
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15375.3)"
     Site            410
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15375.3)"
     Site            order(421..422,424..425)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          443..534
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(443,507,522)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(523..524,526..527)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            556..576
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15375.3)"
     Region          565..630
                     /region_name="EphA2_TM"
                     /note="Ephrin type-A receptor 2 transmembrane domain;
                     pfam14575"
                     /db_xref="CDD:434048"
     Site            608
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15375.3)"
     Site            614
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15375.3)"
     Region          628..894
                     /region_name="PTKc_EphR_A"
                     /note="Catalytic domain of the Protein Tyrosine Kinases,
                     Class EphA Ephrin Receptors; cd05066"
                     /db_xref="CDD:270651"
     Site            order(639,641..643,647,663,665,711..712,714,758,762..763,
                     765,776,795..799,808,842)
                     /site_type="active"
                     /db_xref="CDD:270651"
     Site            order(639..643,647,663,665,711..714,717..718,762..763,765,
                     776)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270651"
     Site            order(758,762,795..799,808,842)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270651"
     Site            775..801
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270651"
     Site            791
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15375.3)"
     Region          919..988
                     /region_name="SAM_EPH-A7"
                     /note="SAM domain of EPH-A7 subfamily of tyrosine kinase
                     receptors; cd09548"
                     /db_xref="CDD:188947"
     Site            order(940,973)
                     /site_type="other"
                     /note="putative phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:188947"
     Site            940
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15375.3)"
     Region          996..998
                     /region_name="PDZ-binding. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15375.3)"
     CDS             1..998
                     /gene="EPHA7"
                     /gene_synonym="EHK-3; EHK3; EK11; HEK11"
                     /coded_by="NM_004440.4:219..3215"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS5031.1"
                     /db_xref="GeneID:2045"
                     /db_xref="HGNC:HGNC:3390"
                     /db_xref="MIM:602190"
ORIGIN      
        1 mvfqtrypsw iilcyiwllr fahtgeaqaa kevllldska qqtelewiss ppngweeisg
       61 ldenytpirt yqvcqvmepn qnnwlrtnwi skgnaqrifv elkftlrdcn slpgvlgtck
      121 etfnlyyyet dydtgrnire nlyvkidtia adesftqgdl gerkmklnte vreigplskk
      181 gfylafqdvg acialvsvkv yykkcwsiie nlaifpdtvt gsefsslvev rgtcvssaee
      241 eaenaprmhc saegewlvpi gkcickagyq qkgdtcepcg rgfyksssqd lqcsrcpths
      301 fsdkegssrc ecedgyyrap sdppyvactr ppsapqnlif ninqttvsle wsppadnggr
      361 ndvtyrilck rcsweqgecv pcgsnigymp qqtglednyv tvmdllahan ytfeveavng
      421 vsdlsrsqrl faavsittgq aapsqvsgvm kervlqrsve lswqepehpn gviteyeiky
      481 yekdqrerty stvktkstsa sinnlkpgtv yvfqirafta agygnysprl dvatleeatg
      541 kmfeatavss eqnpviiiav vavagtiilv fmvfgfiigr rhcgyskadq egdeelyfhf
      601 kfpgtktyid petyedpnra vhqfakelda scikiervig agefgevcsg rlklpgkrdv
      661 avaiktlkvg ytekqrrdfl ceasimgqfd hpnvvhlegv vtrgkpvmiv iefmengald
      721 aflrkhdgqf tviqlvgmlr giaagmryla dmgyvhrdla arnilvnsnl vckvsdfgls
      781 rvieddpeav ytttggkipv rwtapeaiqy rkftsasdvw sygivmwevm sygerpywdm
      841 snqdvikaie egyrlpapmd cpaglhqlml dcwqkeraer pkfeqivgil dkmirnpnsl
      901 ktplgtcsrp isplldqntp dfttfcsvge wlqaikmery kdnftaagyn slesvarmti
      961 edvmslgitl vghqkkimss iqtmraqmlh lhgtgiqv
//
LOCUS       NP_443087                368 aa            linear   PRI 18-DEC-2022
DEFINITION  ankyrin repeat domain-containing protein 40 [Homo sapiens].
ACCESSION   NP_443087
VERSION     NP_443087.1
DBSOURCE    REFSEQ: accession NM_052855.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 368)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 368)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 368)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (residues 1 to 368)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   5  (residues 1 to 368)
  AUTHORS   Sakai Y, Shaw CA, Dawson BC, Dugas DV, Al-Mohtaseb Z, Hill DE and
            Zoghbi HY.
  TITLE     Protein interactome reveals converging molecular pathways among
            autism disorders
  JOURNAL   Sci Transl Med 3 (86), 86ra49 (2011)
   PUBMED   21653829
REFERENCE   6  (residues 1 to 368)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (residues 1 to 368)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005921.3 and BC012978.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR627413.1, SRR1803614.11348.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162328, SAMN03267760
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000285243.7/ ENSP00000285243.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..368
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     Protein         1..368
                     /product="ankyrin repeat domain-containing protein 40"
                     /calculated_mol_wt=40957
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.3,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (Q6AI12.2)"
     Region          9..38
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI12.2)"
     Region          14..64
                     /region_name="Ank_4"
                     /note="Ankyrin repeats (many copies); pfam13637"
                     /db_xref="CDD:372654"
     Region          14..40
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          43..74
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          43..72
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI12.2)"
     Region          48..>93
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          93..115
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI12.2)"
     Region          139..176
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI12.2)"
     Region          196..238
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI12.2)"
     CDS             1..368
                     /gene="ANKRD40"
                     /coded_by="NM_052855.4:261..1367"
                     /db_xref="CCDS:CCDS11572.1"
                     /db_xref="GeneID:91369"
                     /db_xref="HGNC:HGNC:28233"
ORIGIN      
        1 mnalleqkeq qerlreaaal gdirevqklv esgvdvnsqn evngwtclhw ackrnhgqvv
       61 syllksgadk eilttkgemp vqltsrreir kimgveeedd ddddddnlpq lkkeselpfv
      121 pnylanpafp fiytptaeds aqmqnggpst ppasppadgs ppllppgepp llgtfprdht
      181 slalvqngdv sapsailrtp estkpgpvcq ppvsqsrslf ssvpskppms lepqngtyag
      241 papafqpfff tgafpfnmqe lvlkvriqnp slrendfiei eldrqeltyq ellrvcccel
      301 gvnpdqveki rklpntllrk dkdvarlqdf qelelvlmis ennflfrnaa stlterpcyn
      361 rrasklty
//
LOCUS       NP_005450                209 aa            linear   PRI 18-DEC-2022
DEFINITION  guanylyl cyclase-activating protein 3 isoform 1 [Homo sapiens].
ACCESSION   NP_005450 XP_951466
VERSION     NP_005450.3
DBSOURCE    REFSEQ: accession NM_005459.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 209)
  AUTHORS   Avesani A, Bielefeld L, Weisschuh N, Marino V, Mazzola P, Stingl K,
            Haack TB, Koch KW and Dell'Orco D.
  TITLE     Molecular Properties of Human Guanylate Cyclase-Activating Protein
            3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa
  JOURNAL   Int J Mol Sci 23 (6), 3240 (2022)
   PUBMED   35328663
  REMARK    GeneRIF: Molecular Properties of Human Guanylate Cyclase-Activating
            Protein 3 (GCAP3) and Its Possible Association with Retinitis
            Pigmentosa.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 209)
  AUTHORS   Morales-Camara S, Alexandre-Moreno S, Bonet-Fernandez JM,
            Atienzar-Aroca R, Aroca-Aguilar JD, Ferre-Fernandez JJ, Mendez CD,
            Morales L, Fernandez-Sanchez L, Cuenca N, Coca-Prados M,
            Martinez-de-la-Casa JM, Garcia-Feijoo J and Escribano J.
  TITLE     Role of GUCA1C in Primary Congenital Glaucoma and in the Retina:
            Functional Evaluation in Zebrafish
  JOURNAL   Genes (Basel) 11 (5), 550 (2020)
   PUBMED   32422965
  REMARK    GeneRIF: Role of GUCA1C in Primary Congenital Glaucoma and in the
            Retina: Functional Evaluation in Zebrafish.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 209)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 209)
  AUTHORS   Oshikawa M, Tsutsui C, Ikegami T, Fuchida Y, Matsubara M, Toyama S,
            Usami R, Ohtoko K and Kato S.
  TITLE     Full-length transcriptome analysis of human retina-derived cell
            lines ARPE-19 and Y79 using the vector-capping method
  JOURNAL   Invest Ophthalmol Vis Sci 52 (9), 6662-6670 (2011)
   PUBMED   21697133
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 209)
  AUTHORS   Stephen R, Palczewski K and Sousa MC.
  TITLE     The crystal structure of GCAP3 suggests molecular mechanism of
            GCAP-linked cone dystrophies
  JOURNAL   J Mol Biol 359 (2), 266-275 (2006)
   PUBMED   16626734
  REMARK    GeneRIF: Results report the crystal structure of unmyristoylated
            human guanylate cyclase-activating protein 3 (GCAP3) with calcium
            bound.
REFERENCE   6  (residues 1 to 209)
  AUTHORS   Imanishi Y, Li N, Sokal I, Sowa ME, Lichtarge O, Wensel TG,
            Saperstein DA, Baehr W and Palczewski K.
  TITLE     Characterization of retinal guanylate cyclase-activating protein 3
            (GCAP3) from zebrafish to man
  JOURNAL   Eur J Neurosci 15 (1), 63-78 (2002)
   PUBMED   11860507
REFERENCE   7  (residues 1 to 209)
  AUTHORS   Haeseleer F, Sokal I, Li N, Pettenati M, Rao N, Bronson D, Wechter
            R, Baehr W and Palczewski K.
  TITLE     Molecular characterization of a third member of the guanylyl
            cyclase-activating protein subfamily
  JOURNAL   J Biol Chem 274 (10), 6526-6535 (1999)
   PUBMED   10037746
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC016948.4, AV732101.1, AF110002.1, AF110003.1, C20850.1 and
            AC080135.16.
            On Dec 5, 2008 this sequence version replaced NP_005450.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF110002.1, AB593147.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261047.8/ ENSP00000261047.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..209
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.13"
     Protein         1..209
                     /product="guanylyl cyclase-activating protein 3 isoform 1"
                     /note="guanylyl cyclase-activating protein 3; GCAP 3"
                     /calculated_mol_wt=23691
     Region          15..165
                     /region_name="FRQ1"
                     /note="Ca2+-binding protein, EF-hand superfamily [Signal
                     transduction mechanisms]; COG5126"
                     /db_xref="CDD:227455"
     Region          187..209
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95843.3)"
     CDS             1..209
                     /gene="GUCA1C"
                     /gene_synonym="GCAP3"
                     /coded_by="NM_005459.4:118..747"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2954.1"
                     /db_xref="GeneID:9626"
                     /db_xref="HGNC:HGNC:4680"
                     /db_xref="MIM:605128"
ORIGIN      
        1 mgngksiagd qkavptqeth vwyrtfmmey psglqtlhef ktllglqgln qkankhidqv
       61 yntfdtnkdg fvdflefiaa vnlimqekme qklkwyfkly dadgngsidk nelldmfmav
      121 qalngqqtls peefinlvfh kidinndgel tleefingma kdqdlleivy ksfdfsnvlr
      181 vicngkqpdm etdsskspdk aglgkvkmk
//
LOCUS       NP_057178                199 aa            linear   PRI 18-DEC-2022
DEFINITION  COMM domain-containing protein 2 [Homo sapiens].
ACCESSION   NP_057178
VERSION     NP_057178.2
DBSOURCE    REFSEQ: accession NM_016094.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 199)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 199)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 199)
  AUTHORS   Hubel P, Urban C, Bergant V, Schneider WM, Knauer B, Stukalov A,
            Scaturro P, Mann A, Brunotte L, Hoffmann HH, Schoggins JW,
            Schwemmle M, Mann M, Rice CM and Pichlmair A.
  TITLE     A protein-interaction network of interferon-stimulated genes
            extends the innate immune system landscape
  JOURNAL   Nat Immunol 20 (4), 493-502 (2019)
   PUBMED   30833792
REFERENCE   4  (residues 1 to 199)
  AUTHORS   McNally KE, Faulkner R, Steinberg F, Gallon M, Ghai R, Pim D,
            Langton P, Pearson N, Danson CM, Nagele H, Morris LL, Singla A,
            Overlee BL, Heesom KJ, Sessions R, Banks L, Collins BM, Berger I,
            Billadeau DD, Burstein E and Cullen PJ.
  TITLE     Retriever is a multiprotein complex for retromer-independent
            endosomal cargo recycling
  JOURNAL   Nat Cell Biol 19 (10), 1214-1225 (2017)
   PUBMED   28892079
REFERENCE   5  (residues 1 to 199)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (residues 1 to 199)
  AUTHORS   Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA,
            Weisswange I, Mansfeld J, Buchholz F, Hyman AA and Mann M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   7  (residues 1 to 199)
  AUTHORS   Phillips-Krawczak CA, Singla A, Starokadomskyy P, Deng Z, Osborne
            DG, Li H, Dick CJ, Gomez TS, Koenecke M, Zhang JS, Dai H,
            Sifuentes-Dominguez LF, Geng LN, Kaufmann SH, Hein MY, Wallis M,
            McGaughran J, Gecz J, Sluis Bv, Billadeau DD and Burstein E.
  TITLE     COMMD1 is linked to the WASH complex and regulates endosomal
            trafficking of the copper transporter ATP7A
  JOURNAL   Mol Biol Cell 26 (1), 91-103 (2015)
   PUBMED   25355947
REFERENCE   8  (residues 1 to 199)
  AUTHORS   Starokadomskyy P, Gluck N, Li H, Chen B, Wallis M, Maine GN, Mao X,
            Zaidi IW, Hein MY, McDonald FJ, Lenzner S, Zecha A, Ropers HH, Kuss
            AW, McGaughran J, Gecz J and Burstein E.
  TITLE     CCDC22 deficiency in humans blunts activation of proinflammatory
            NF-kappaB signaling
  JOURNAL   J Clin Invest 123 (5), 2244-2256 (2013)
   PUBMED   23563313
REFERENCE   9  (residues 1 to 199)
  AUTHORS   Mao X, Gluck N, Chen B, Starokadomskyy P, Li H, Maine GN and
            Burstein E.
  TITLE     COMMD1 (copper metabolism MURR1 domain-containing protein 1)
            regulates Cullin RING ligases by preventing CAND1
            (Cullin-associated Nedd8-dissociated protein 1) binding
  JOURNAL   J Biol Chem 286 (37), 32355-32365 (2011)
   PUBMED   21778237
REFERENCE   10 (residues 1 to 199)
  AUTHORS   Burstein E, Hoberg JE, Wilkinson AS, Rumble JM, Csomos RA, Komarck
            CM, Maine GN, Wilkinson JC, Mayo MW and Duckett CS.
  TITLE     COMMD proteins, a novel family of structural and functional
            homologs of MURR1
  JOURNAL   J Biol Chem 280 (23), 22222-22232 (2005)
   PUBMED   15799966
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA811158.1, BC022206.1, BC001228.1, AK055223.1 and BU633168.1.
            On Mar 18, 2004 this sequence version replaced NP_057178.1.
            
            Transcript Variant: This variant (1) encodes the supported protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.3471100.1,
                                           SRR11853561.21375.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000473414.6/ ENSP00000419475.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..199
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.1"
     Protein         1..199
                     /product="COMM domain-containing protein 2"
                     /calculated_mol_wt=22614
     Region          26..190
                     /region_name="Commd2"
                     /note="COMM_Domain containing protein 2. The COMM Domain
                     is found at the C-terminus of a variety of proteins;
                     presumably all COMM_Domain containing proteins are located
                     in the nucleus and the COMM domain plays a role in
                     protein-protein interactions. Several...; cd04750"
                     /db_xref="CDD:240098"
     CDS             1..199
                     /gene="COMMD2"
                     /gene_synonym="HSPC042"
                     /coded_by="NM_016094.4:46..645"
                     /db_xref="CCDS:CCDS3145.1"
                     /db_xref="GeneID:51122"
                     /db_xref="HGNC:HGNC:24993"
                     /db_xref="MIM:616699"
ORIGIN      
        1 mllelseehk ehlaflpqvd savvaefgri aveflrrgan pkiyegaark lnvssdtvqh
       61 gvegltyllt essklmisel dfqdsvfvlg fseelnklll qlyldnrkei rtilselaps
      121 lpsyhnlewr ldvqlasrsl rqqikpavti klhlnqngdh ntkvlqtdpa tllhlvqqle
      181 qaleemktnh crrvvrnik
//
LOCUS       NP_001288698             161 aa            linear   PRI 18-DEC-2022
DEFINITION  lipid droplet assembly factor 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001288698
VERSION     NP_001288698.1
DBSOURCE    REFSEQ: accession NM_001301769.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 161)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 161)
  AUTHORS   Chung J, Wu X, Lambert TJ, Lai ZW, Walther TC and Farese RV Jr.
  TITLE     LDAF1 and Seipin Form a Lipid Droplet Assembly Complex
  JOURNAL   Dev Cell 51 (5), 551-563 (2019)
   PUBMED   31708432
  REMARK    GeneRIF: The LDAF1binds seipin and determines the sites of lipid
            droplet formation in the ER.  LDAF1-seipin complex is the core
            protein machinery that facilitates LD biogenesis.
REFERENCE   3  (residues 1 to 161)
  AUTHORS   Castro IG, Eisenberg-Bord M, Persiani E, Rochford JJ, Schuldiner M
            and Bohnert M.
  TITLE     Promethin Is a Conserved Seipin Partner Protein
  JOURNAL   Cells 8 (3), 268 (2019)
   PUBMED   30901948
  REMARK    GeneRIF: promethin is indeed an lipid droplet-associated protein
            that forms a complex with seipin.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 161)
  AUTHORS   Eisenberg-Bord M, Mari M, Weill U, Rosenfeld-Gur E, Moldavski O,
            Castro IG, Soni KG, Harpaz N, Levine TP, Futerman AH, Reggiori F,
            Bankaitis VA, Schuldiner M and Bohnert M.
  TITLE     Identification of seipin-linked factors that act as determinants of
            a lipid droplet subpopulation
  JOURNAL   J Cell Biol 217 (1), 269-282 (2018)
   PUBMED   29187527
REFERENCE   5  (residues 1 to 161)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam
            S, MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 161)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   7  (residues 1 to 161)
  AUTHORS   Toulza E, Mattiuzzo NR, Galliano MF, Jonca N, Dossat C, Jacob D, de
            Daruvar A, Wincker P, Serre G and Guerrin M.
  TITLE     Large-scale identification of human genes implicated in epidermal
            barrier function
  JOURNAL   Genome Biol 8 (6), R107 (2007)
   PUBMED   17562024
REFERENCE   8  (residues 1 to 161)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (residues 1 to 161)
  AUTHORS   Yu S, Viswakarma N, Batra SK, Sambasiva Rao M and Reddy JK.
  TITLE     Identification of promethin and PGLP as two novel up-regulated
            genes in PPARgamma1-induced adipogenic mouse liver
  JOURNAL   Biochimie 86 (11), 743-761 (2004)
   PUBMED   15589683
REFERENCE   10 (residues 1 to 161)
  AUTHORS   Yu S, Matsusue K, Kashireddy P, Cao WQ, Yeldandi V, Yeldandi AV,
            Rao MS, Gonzalez FJ and Reddy JK.
  TITLE     Adipocyte-specific gene expression and adipogenic steatosis in the
            mouse liver due to peroxisome proliferator-activated receptor
            gamma1 (PPARgamma1) overexpression
  JOURNAL   J Biol Chem 278 (1), 498-505 (2003)
   PUBMED   12401792
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF070596.1, BI821683.1, BC015812.1, BX647512.1, CU448562.1,
            AL694739.1 and AF001550.1.
            
            Transcript Variant: This variant (3) contains an alternate exon in
            the 5' UTR and lacks an alternate in-frame exon in the 5' coding
            region, compared to variant 1. The encoded isoform (2) is shorter
            than isoform 1. Variants 2, 3, and 4 all encode the same isoform
            (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BI821683.1, SRR14038191.740432.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..161
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3"
     Protein         1..161
                     /product="lipid droplet assembly factor 1 isoform 2"
                     /note="PROMETHIN; transmembrane protein 159"
                     /calculated_mol_wt=17391
     Region          41..127
                     /region_name="Promethin"
                     /note="pfam16015"
                     /db_xref="CDD:435071"
     Site            44..61
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96B96.2)"
     Site            68..87
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96B96.2)"
     Site            94..110
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96B96.2)"
     Site            117..133
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96B96.2)"
     CDS             1..161
                     /gene="LDAF1"
                     /gene_synonym="TMEM159"
                     /coded_by="NM_001301769.2:203..688"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS10595.1"
                     /db_xref="GeneID:57146"
                     /db_xref="HGNC:HGNC:30136"
                     /db_xref="MIM:611304"
ORIGIN      
        1 makeepqsis rdlqelqkkl sllidsfqnn skvvafmksp vgqyldshpf laftllvfiv
       61 msavpvgffl livvlttlaa llgviilegl visvggfsll cilcglgfvs lamsgmmias
      121 yvvvsslisc wfsprpltqq ntscdflpam ksaefeglyq e
//
LOCUS       NP_001300621              58 aa            linear   PRI 23-DEC-2022
DEFINITION  uncharacterized protein LOC102723553 isoform b [Homo sapiens].
ACCESSION   NP_001300621
VERSION     NP_001300621.1
DBSOURCE    REFSEQ: accession NM_001313692.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 58)
  AUTHORS   Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J,
            Mizushima-Sugano J, Nakai K and Sugano S.
  TITLE     Sequence comparison of human and mouse genes reveals a homologous
            block structure in the promoter regions
  JOURNAL   Genome Res 14 (9), 1711-1718 (2004)
   PUBMED   15342556
REFERENCE   2  (residues 1 to 58)
  AUTHORS   Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA,
            da Silva W Jr, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho
            AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS,
            Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF,
            de Souza SJ and Simpson AJ.
  TITLE     Shotgun sequencing of the human transcriptome with ORF expressed
            sequence tags
  JOURNAL   Proc Natl Acad Sci U S A 97 (7), 3491-3496 (2000)
   PUBMED   10737800
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP194116.1, CU633980.13, AW901268.1 and DB526804.1.
            
            Sequence Note: NM_001313692 is annotated on a scaffold that is
            thought to be a false duplication and thus this accession is likely
            redundant with NM_001376899.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DB461399.1, BU599681.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..58
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21p11.2"
     Protein         1..58
                     /product="uncharacterized protein LOC102723553 isoform b"
                     /calculated_mol_wt=6755
     Region          4..53
                     /region_name="FAM165"
                     /note="FAM165 family; pfam14981"
                     /db_xref="CDD:317404"
     CDS             1..58
                     /gene="LOC102723553"
                     /gene_synonym="SMIM11B"
                     /coded_by="NM_001313692.1:166..342"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="GeneID:102723553"
ORIGIN      
        1 mnwkvlehvp lllyilaakt lilcltfagv kmyqrkrlea kqqkleaerk kqsekkdn
//
LOCUS       NP_940999               1094 aa            linear   PRI 24-DEC-2022
DEFINITION  protein transport protein Sec24C [Homo sapiens].
ACCESSION   NP_940999
VERSION     NP_940999.1
DBSOURCE    REFSEQ: accession NM_198597.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1094)
  AUTHORS   Rebensburg SV, Wei G, Larue RC, Lindenberger J, Francis AC,
            Annamalai AS, Morrison J, Shkriabai N, Huang SW, KewalRamani V,
            Poeschla EM, Melikyan GB and Kvaratskhelia M.
  TITLE     Sec24C is an HIV-1 host dependency factor crucial for virus
            replication
  JOURNAL   Nat Microbiol 6 (4), 435-444 (2021)
   PUBMED   33649557
  REMARK    GeneRIF: Sec24C is an HIV-1 host dependency factor crucial for
            virus replication.
REFERENCE   2  (residues 1 to 1094)
  AUTHORS   Deng SJ, Shen Y, Gu HM, Guo S, Wu SR and Zhang DW.
  TITLE     The role of the C-terminal domain of PCSK9 and SEC24 isoforms in
            PCSK9 secretion
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1865 (6), 158660 (2020)
   PUBMED   32058034
  REMARK    GeneRIF: The role of the C-terminal domain of PCSK9 and SEC24
            isoforms in PCSK9 secretion.
REFERENCE   3  (residues 1 to 1094)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1094)
  AUTHORS   Gui X, Yang H, Li T, Tan X, Shi P, Li M, Du F and Chen ZJ.
  TITLE     Autophagy induction via STING trafficking is a primordial function
            of the cGAS pathway
  JOURNAL   Nature 567 (7747), 262-266 (2019)
   PUBMED   30842662
REFERENCE   5  (residues 1 to 1094)
  AUTHORS   Wang B, Joo JH, Mount R, Teubner BJW, Krenzer A, Ward AL,
            Ichhaporia VP, Adams EJ, Khoriaty R, Peters ST, Pruett-Miller SM,
            Zakharenko SS, Ginsburg D and Kundu M.
  TITLE     The COPII cargo adapter SEC24C is essential for neuronal
            homeostasis
  JOURNAL   J Clin Invest 128 (8), 3319-3332 (2018)
   PUBMED   29939162
  REMARK    GeneRIF: These data suggest that SEC24C is a major cargo adapter
            for COPII-dependent transport in postmitotic neurons in developing
            and adult brains and that its functions overlap at least partially
            with those of SEC24D in mammals.
REFERENCE   6  (residues 1 to 1094)
  AUTHORS   Kirchhausen T.
  TITLE     Three ways to make a vesicle
  JOURNAL   Nat Rev Mol Cell Biol 1 (3), 187-198 (2000)
   PUBMED   11252894
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol 2001 Mar;2(3):216]
REFERENCE   7  (residues 1 to 1094)
  AUTHORS   Lippincott-Schwartz J, Roberts TH and Hirschberg K.
  TITLE     Secretory protein trafficking and organelle dynamics in living
            cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
REFERENCE   8  (residues 1 to 1094)
  AUTHORS   Tang BL, Kausalya J, Low DY, Lock ML and Hong W.
  TITLE     A family of mammalian proteins homologous to yeast Sec24p
  JOURNAL   Biochem Biophys Res Commun 258 (3), 679-684 (1999)
   PUBMED   10329445
REFERENCE   9  (residues 1 to 1094)
  AUTHORS   Tani K, Oyama Y, Hatsuzawa K and Tagaya M.
  TITLE     Hypothetical protein KIAA0079 is a mammalian homologue of yeast
            Sec24p
  JOURNAL   FEBS Lett 447 (2-3), 247-250 (1999)
   PUBMED   10214955
REFERENCE   10 (residues 1 to 1094)
  AUTHORS   Pagano A, Letourneur F, Garcia-Estefania D, Carpentier JL, Orci L
            and Paccaud JP.
  TITLE     Sec24 proteins and sorting at the endoplasmic reticulum
  JOURNAL   J Biol Chem 274 (12), 7833-7840 (1999)
   PUBMED   10075675
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022400.9, AL596994.1,
            BC018928.2, D38555.1 and CA419040.1.
            
            Summary: The protein encoded by this gene is a member of the SEC24
            subfamily of the SEC23/SEC24 family, which is involved in vesicle
            trafficking. The encoded protein has similarity to yeast Sec24p
            component of COPII. COPII is the coat protein complex responsible
            for vesicle budding from the ER. The product of this gene may play
            a role in shaping the vesicle, as well as in cargo selection and
            concentration. Alternatively spliced transcript variants encoding
            the same protein have been identified. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (2) lacks a segment in the 5' UTR
            region, compared to variant 1. Both variants 1 and 2 encode the
            same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.4989.1,
                                           SRR1803614.201498.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000345254.9/ ENSP00000321845.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1094
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.2"
     Protein         1..1094
                     /product="protein transport protein Sec24C"
                     /note="SEC24 family, member C; SEC24-related protein C;
                     SEC24 related gene family, member C"
                     /calculated_mol_wt=118194
     Region          1..338
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P53992.3)"
     Region          <4..329
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          181..1090
                     /region_name="COG5028"
                     /note="Vesicle coat complex COPII, subunit SEC24/subunit
                     SFB2/subunit SFB3 [Intracellular trafficking and
                     secretion]"
                     /db_xref="CDD:227361"
     Site            214
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P53992.3)"
     Region          425..450
                     /region_name="Zinc finger-like"
                     /note="propagated from UniProtKB/Swiss-Prot (P53992.3)"
     Region          962..1034
                     /region_name="Gelsolin-like. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P53992.3)"
     CDS             1..1094
                     /gene="SEC24C"
                     /coded_by="NM_198597.3:95..3379"
                     /db_xref="CCDS:CCDS7332.1"
                     /db_xref="GeneID:9632"
                     /db_xref="HGNC:HGNC:10705"
                     /db_xref="MIM:607185"
ORIGIN      
        1 mnvnqsvppv ppfgqpqpiy pgyhqssygg qsgstapaip ygayngpvpg yqqtppqgms
       61 rappssgapp astaqapcgq aaygqfgqgd vqngpsstvq mqrlpgsqpf gsplapvgnq
      121 ppvlqpygpp ptsaqvatql sgmqisgava pappssglgf gpptslasas gsfpnsglyg
      181 sypqgqappl sqaqghpgiq tpqrsapsqa ssftppasgg prlpsmtgpl lpgqsfggps
      241 vsqpnhvssp pqalppgtqm tgplgplppm hspqqpgyqp qqngsfgpar gpqsnyggpy
      301 paaptfgsqp gppqplppkr ldpdaipspi qvieddrnnr gtepfvtgvr gqvpplvttn
      361 flvkdqgnas pryirctsyn ipctsdmakq aqvplaavik plarlppeea spyvvdhges
      421 gplrcnrcka ymcpfmqfie ggrrfqccfc scindvppqy fqhldhtgkr vdaydrpels
      481 lgsyeflatv dycknnkfps ppafifmidv synairtglv rllceelksl ldflpregga
      541 eesairvgfv tynkvlhfyn vksslaqpqm mvvsdvadmf vplldgflvn vnesravits
      601 lldqipemfa dtretetvfv pviqagmeal kaaecagklf lfhtslpiae apgklknrdd
      661 rklintdkek tlfqpqtgay qtlakecvaq gccvdlflfp nqyvdvatls vvpqltggsv
      721 ykyasfqven dqerflsdlr rdvqkvvgfd avmrvrtstg iravdffgaf ymsnttdvel
      781 agldgdktvt vefkhddrln eesgallqca llytscagqr rlrihnlaln cctqladlyr
      841 ncetdtliny makfayrgvl nspvkavrdt litqcaqila cyrkncasps sagqlilpec
      901 mkllpvylnc vlksdvlqpg aevttddray vrqlvtsmdv tetnvffypr llpltkspve
      961 stteppavra seerlsngdi yllenglnlf lwvgasvqqg vvqslfsvss fsqitsglsv
     1021 lpvldnplsk kvrglidslr aqrsrymklt vvkqedkmem lfkhflvedk slsggasyvd
     1081 flchmhkeir qlls
//
LOCUS       NP_001159819             606 aa            linear   PRI 24-DEC-2022
DEFINITION  sodium-independent sulfate anion transporter [Homo sapiens].
ACCESSION   NP_001159819
VERSION     NP_001159819.1
DBSOURCE    REFSEQ: accession NM_001166347.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 606)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 606)
  AUTHORS   Li J, Xia F and Reithmeier RA.
  TITLE     N-glycosylation and topology of the human SLC26 family of anion
            transport membrane proteins
  JOURNAL   Am J Physiol Cell Physiol 306 (10), C943-C960 (2014)
   PUBMED   24647542
REFERENCE   3  (residues 1 to 606)
  AUTHORS   Palmieri M, Impey S, Kang H, di Ronza A, Pelz C, Sardiello M and
            Ballabio A.
  TITLE     Characterization of the CLEAR network reveals an integrated control
            of cellular clearance pathways
  JOURNAL   Hum Mol Genet 20 (19), 3852-3866 (2011)
   PUBMED   21752829
  REMARK    GeneRIF: SLC26A11 protein localizes in lysosomes in HeLa cells
REFERENCE   4  (residues 1 to 606)
  AUTHORS   Schroder BA, Wrocklage C, Hasilik A and Saftig P.
  TITLE     The proteome of lysosomes
  JOURNAL   Proteomics 10 (22), 4053-4076 (2010)
   PUBMED   20957757
  REMARK    Review article
REFERENCE   5  (residues 1 to 606)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   6  (residues 1 to 606)
  AUTHORS   Sindic A, Chang MH, Mount DB and Romero MF.
  TITLE     Renal physiology of SLC26 anion exchangers
  JOURNAL   Curr Opin Nephrol Hypertens 16 (5), 484-490 (2007)
   PUBMED   17693766
  REMARK    Review article
REFERENCE   7  (residues 1 to 606)
  AUTHORS   Soleimani M and Xu J.
  TITLE     SLC26 chloride/base exchangers in the kidney in health and disease
  JOURNAL   Semin Nephrol 26 (5), 375-385 (2006)
   PUBMED   17071331
  REMARK    Review article
REFERENCE   8  (residues 1 to 606)
  AUTHORS   Vincourt JB, Jullien D, Amalric F and Girard JP.
  TITLE     Molecular and functional characterization of SLC26A11, a
            sodium-independent sulfate transporter from high endothelial
            venules
  JOURNAL   FASEB J 17 (8), 890-892 (2003)
   PUBMED   12626430
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA290933.1, AK315132.1,
            BC035900.1, AK075248.1 and AI963799.1.
            
            Summary: This gene encodes a member of the solute linked carrier 26
            family of anion exchangers. Members of this family of proteins are
            essential for numerous cellular functions including homeostasis and
            intracellular electrolyte balance. The encoded protein is a sodium
            independent sulfate transporter that is sensitive to the anion
            exchanger inhibitor 4,4'-diisothiocyanostilbene-2,2'-disulfonic
            acid. Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2, 3 and 4 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ544073.1, SRR1803612.45359.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361193.8/ ENSP00000355384.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..606
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..606
                     /product="sodium-independent sulfate anion transporter"
                     /note="solute carrier family 26 (anion exchanger), member
                     11"
                     /calculated_mol_wt=65168
     Region          35..559
                     /region_name="sulP"
                     /note="high affinity sulphate transporter 1; TIGR00815"
                     /db_xref="CDD:273284"
     Site            52..72
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WA9.2)"
     Site            74..94
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WA9.2)"
     Site            101..117
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WA9.2)"
     Site            120..140
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WA9.2)"
     Site            148..168
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WA9.2)"
     Site            198..218
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WA9.2)"
     Site            251..271
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WA9.2)"
     Site            308..328
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WA9.2)"
     Site            342..362
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WA9.2)"
     Site            375..395
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WA9.2)"
     Site            399..419
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WA9.2)"
     Site            442..462
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WA9.2)"
     CDS             1..606
                     /gene="SLC26A11"
                     /coded_by="NM_001166347.2:284..2104"
                     /db_xref="CCDS:CCDS11771.2"
                     /db_xref="GeneID:284129"
                     /db_xref="HGNC:HGNC:14471"
                     /db_xref="MIM:610117"
ORIGIN      
        1 mpssvtalgq arssgpgmap sacccspaal qrrlpilawl psyslqwlkm dfvaglsvgl
       61 taipqalaya evaglppqyg lysafmgcfv yfflgtsrdv tlgptaimsl lvsfytfhep
      121 ayavllafls gciqlamgvl rlgflldfis ypvikgftsa aavtigfgqi knllglqnip
      181 rpfflqvyht flriaetrvg davlglvcml lllvlklmrd hvppvhpemp pgvrlsrglv
      241 waattarnal vvsfaalvay sfevtgyqpf iltgetaegl ppvrippfsv ttangtisft
      301 emvqdmgagl avvplmglle siavakafas qnnyridanq ellaigltnm lgslvssypv
      361 tgsfgrtavn aqsgvctpag glvtgvlvll sldyltslfy yipksalaav iimavaplfd
      421 tkifrtlwrv krldllplcv tfllcfwevq ygilagalvs llmllhsaar petkvsegpv
      481 lvlqpasgls fpamealree ilsralevsp prclvlecth vcsidytvvl glgellqdfq
      541 kqgvalafvg lqvpvlrvll sadlkgfqyf stleeaekhl rqepgtqpyn iredsildqk
      601 vallka
//
LOCUS       NP_001310464             358 aa            linear   PRI 25-DEC-2022
DEFINITION  splicing regulatory glutamine/lysine-rich protein 1 isoform h [Homo
            sapiens].
ACCESSION   NP_001310464
VERSION     NP_001310464.1
DBSOURCE    REFSEQ: accession NM_001323535.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 358)
  AUTHORS   Chang C, Rajasekaran M, Qiao Y, Dong H, Wang Y, Xia H,
            Deivasigamani A, Wu M, Sekar K, Gao H, Sun M, Niu Y, Li Q, Tao L,
            Yan Z, Wang M, Chen S, Zhao S, Chen D, Li L, Yang F, Gao H, Chen B,
            Su L, Xu L, Chen Y, Seshachalam VP, Chen G, Gunaratne J, Hong W,
            Shi J, Chen G, Grierson DS, Chabot B, Xie T, Hui KM and Chen J.
  TITLE     The aberrant upregulation of exon 10-inclusive SREK1 through SRSF10
            acts as an oncogenic driver in human hepatocellular carcinoma
  JOURNAL   Nat Commun 13 (1), 1363 (2022)
   PUBMED   35296659
  REMARK    GeneRIF: The aberrant upregulation of exon 10-inclusive SREK1
            through SRSF10 acts as an oncogenic driver in human hepatocellular
            carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 358)
  AUTHORS   Abudureheman Z, Li L, Zhong X, Xu J, Gong H, Yilamujiang S, Ren J,
            Xie C, Zheng A, Tuerxun D, Abudukadeer A, Aini P, Xu A and Zou X.
  TITLE     The rs74794265 SNP of the SREK1 Gene is Associated with COPD in
            Kashi, China
  JOURNAL   Int J Chron Obstruct Pulmon Dis 16, 2631-2636 (2021)
   PUBMED   34556983
  REMARK    GeneRIF: The rs74794265 SNP of the SREK1 Gene is Associated with
            COPD in Kashi, China.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 358)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   4  (residues 1 to 358)
  AUTHORS   Hernandez IH, Cabrera JR, Santos-Galindo M, Sanchez-Martin M,
            Dominguez V, Garcia-Escudero R, Perez-Alvarez MJ, Pintado B and
            Lucas JJ.
  TITLE     Pathogenic SREK1 decrease in Huntington's disease lowers TAF1
            mimicking X-linked dystonia parkinsonism
  JOURNAL   Brain 143 (7), 2207-2219 (2020)
   PUBMED   32533168
  REMARK    GeneRIF: Pathogenic SREK1 decrease in Huntington's disease lowers
            TAF1 mimicking X-linked dystonia parkinsonism.
REFERENCE   5  (residues 1 to 358)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 358)
  AUTHORS   Heese K, Fujita M, Akatsu H, Yamamoto T, Kosaka K, Nagai Y and
            Sawada T.
  TITLE     The splicing regulatory protein p18SRP is down-regulated in
            Alzheimer's disease brain
  JOURNAL   J Mol Neurosci 24 (2), 269-276 (2004)
   PUBMED   15456940
  REMARK    GeneRIF: p18SRP is a lysine-rich zinc finger domain-containing
            protein that interacts with the serine-arginine-rich splicing
            regulatory protein SRrp86; it is downregulated in brain of
            Alzheimer disease patients.
REFERENCE   7  (residues 1 to 358)
  AUTHORS   Li J, Hawkins IC, Harvey CD, Jennings JL, Link AJ and Patton JG.
  TITLE     Regulation of alternative splicing by SRrp86 and its interacting
            proteins
  JOURNAL   Mol Cell Biol 23 (21), 7437-7447 (2003)
   PUBMED   14559993
REFERENCE   8  (residues 1 to 358)
  AUTHORS   Li J, Barnard DC and Patton JG.
  TITLE     A unique glutamic acid-lysine (EK) domain acts as a splicing
            inhibitor
  JOURNAL   J Biol Chem 277 (42), 39485-39492 (2002)
   PUBMED   12183448
  REMARK    GeneRIF: the unique glutamic acid-lysine domain of SRrp86 plays a
            modulatory role controlling serine-arginine domain function
REFERENCE   9  (residues 1 to 358)
  AUTHORS   Barnard DC, Li J, Peng R and Patton JG.
  TITLE     Regulation of alternative splicing by SRrp86 through coactivation
            and repression of specific SR proteins
  JOURNAL   RNA 8 (4), 526-533 (2002)
   PUBMED   11991645
  REMARK    GeneRIF: SRrp86 can activate SRp20 and repress SC35 in a
            dose-dependent manner both in vitro and in vivo
REFERENCE   10 (residues 1 to 358)
  AUTHORS   Barnard DC and Patton JG.
  TITLE     Identification and characterization of a novel serine-arginine-rich
            splicing regulatory protein
  JOURNAL   Mol Cell Biol 20 (9), 3049-3057 (2000)
   PUBMED   10757789
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025442.6 and AC008772.6.
            
            Summary: This gene encodes a member of a family of
            serine/arginine-rich (SR) splicing proteins containing RNA
            recognition motif (RRM) domains. The encoded protein interacts with
            other SR proteins to modulate splice site selection. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, Jul 2012].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.136614.1,
                                           SRR1803615.154640.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..358
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q12.3"
     Protein         1..358
                     /product="splicing regulatory glutamine/lysine-rich
                     protein 1 isoform h"
                     /note="splicing factor, arginine/serine-rich 12;
                     serine-arginine-rich splicing regulatory protein 508;
                     serine/arginine-rich-splicing regulatory protein 86;
                     splicing regulatory glutamine/lysine-rich protein 1;
                     splicing regulatory glutamic acid/lysine-rich protein 1"
                     /calculated_mol_wt=43224
     CDS             1..358
                     /gene="SREK1"
                     /gene_synonym="SFRS12; SRrp508; SRrp86"
                     /coded_by="NM_001323535.2:764..1840"
                     /note="isoform h is encoded by transcript variant 9"
                     /db_xref="GeneID:140890"
                     /db_xref="HGNC:HGNC:17882"
                     /db_xref="MIM:609268"
ORIGIN      
        1 mtpqaaakel eevmkrvrea qsfisaaiep esgksnerkg grsrshtrsk srssskshsr
       61 rkrsqskhrs rshnrsrsrq kdrrrsksph kkrsksrerr ksrsrshsrd krkdtrekik
      121 ekervkekdr ekerereker ekekergknk drdkerekdr ekdkekdrer erekehekdr
      181 dkekekeqdk ekerekdrsk eidekrkkdk ksrtpprsyn asrrsrsssr errrrrsrss
      241 srsprtskti krkssrspsp rrnkkdkkre kerdhiserr ererstsmrk ssndrdgkek
      301 leknstslke kehnkepdss vskevddkda prteenkiqh ngncqlneen lstkteav
//
LOCUS       NP_870996                125 aa            linear   PRI 25-DEC-2022
DEFINITION  testis-specific basic protein Y 1 [Homo sapiens].
ACCESSION   NP_870996 XP_001133954
VERSION     NP_870996.1
DBSOURCE    REFSEQ: accession NM_181880.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 125)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 125)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   3  (residues 1 to 125)
  AUTHORS   Lahn BT and Page DC.
  TITLE     A human sex-chromosomal gene family expressed in male germ cells
            and encoding variably charged proteins
  JOURNAL   Hum Mol Genet 9 (2), 311-319 (2000)
   PUBMED   10607842
REFERENCE   4  (residues 1 to 125)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Functional coherence of the human Y chromosome
  JOURNAL   Science 278 (5338), 675-680 (1997)
   PUBMED   9381176
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018677.3 and BC056508.1.
            On Sep 20, 2006 this sequence version replaced XP_001133954.1.
            
            Summary: The protein encoded by this gene is a member of a family
            of human VCX/Y genes. This gene family has multiple members on both
            X and Y chromosomes, and all are expressed exclusively in male germ
            cells. Members of the VCX/Y family share a high degree of sequence
            identity, with the exception that a 30-bp unit is tandemly repeated
            in X-linked members but occurs only once in Y-linked members. VCX/Y
            genes encode small and highly charged proteins of unknown function.
            This gene encodes a small, positively charged protein. The presence
            of a putative bipartite nuclear localization signal suggests that
            this gene encodes a nuclear protein. The genome has two identical
            copies of this gene within a palindromic region; this record
            represents the more telomeric copy. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BU595028.1, HY020717.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000250823.5/ ENSP00000250823.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..125
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.221"
     Protein         1..125
                     /product="testis-specific basic protein Y 1"
                     /note="testis-specific basic protein on Y, 1; basic
                     protein on Y chromosome, 1; basic charge, Y-linked 1;
                     variably charged protein Y"
                     /calculated_mol_wt=12786
     Region          1..125
                     /region_name="VCX_VCY"
                     /note="Variable charge X/Y family; pfam15231"
                     /db_xref="CDD:434553"
     Region          19..50
                     /region_name="putative bipartite nuclear localization
                     signal"
     CDS             1..125
                     /gene="VCY1B"
                     /gene_synonym="BPY1B"
                     /coded_by="NM_181880.2:64..441"
                     /db_xref="CCDS:CCDS56618.1"
                     /db_xref="GeneID:353513"
                     /db_xref="HGNC:HGNC:31751"
                     /db_xref="MIM:400050"
ORIGIN      
        1 mspkprasgp pakaketgkr ksssqpspsg pkkkttkvae kgeavrggrr gkkgaatkma
       61 avtapeaesg paapgpsdqp sqelpqhelp peepvsegtq hdplsqesel eeplskgrps
      121 tplsp
//
LOCUS       NP_065895                454 aa            linear   PRI 25-DEC-2022
DEFINITION  probable tRNA methyltransferase 9B isoform 1 [Homo sapiens].
ACCESSION   NP_065895
VERSION     NP_065895.2
DBSOURCE    REFSEQ: accession NM_020844.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 454)
  AUTHORS   Chen H, Wang J, Zhang Y and Gao Y.
  TITLE     [Overexpression of KIAA1456 inhibits the proliferation of HO8910PM
            cells]
  JOURNAL   Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 32 (9), 1183-1187 (2016)
   PUBMED   27609572
  REMARK    GeneRIF: Over-expression of KIAA1456 inhibits the proliferation of
            HO8910PM ovarian cancer cells and arrests the cell cycle in G1
            phase.
REFERENCE   2  (residues 1 to 454)
  AUTHORS   Figueiredo JC, Hsu L, Hutter CM, Lin Y, Campbell PT, Baron JA,
            Berndt SI, Jiao S, Casey G, Fortini B, Chan AT, Cotterchio M,
            Lemire M, Gallinger S, Harrison TA, Le Marchand L, Newcomb PA,
            Slattery ML, Caan BJ, Carlson CS, Zanke BW, Rosse SA, Brenner H,
            Giovannucci EL, Wu K, Chang-Claude J, Chanock SJ, Curtis KR, Duggan
            D, Gong J, Haile RW, Hayes RB, Hoffmeister M, Hopper JL, Jenkins
            MA, Kolonel LN, Qu C, Rudolph A, Schoen RE, Schumacher FR, Seminara
            D, Stelling DL, Thibodeau SN, Thornquist M, Warnick GS, Henderson
            BE, Ulrich CM, Gauderman WJ, Potter JD, White E and Peters U.
  CONSRTM   CCFR; GECCO
  TITLE     Genome-wide diet-gene interaction analyses for risk of colorectal
            cancer
  JOURNAL   PLoS Genet 10 (4), e1004228 (2014)
   PUBMED   24743840
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 454)
  AUTHORS   Wolf EJ, Rasmusson AM, Mitchell KS, Logue MW, Baldwin CT and Miller
            MW.
  TITLE     A genome-wide association study of clinical symptoms of
            dissociation in a trauma-exposed sample
  JOURNAL   Depress Anxiety 31 (4), 352-360 (2014)
   PUBMED   24677629
REFERENCE   4  (residues 1 to 454)
  AUTHORS   Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G,
            Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U,
            McArdle WL, Quaye L, Koiranen M, Ikram MA, Lehtimaki T, Stam AH,
            Ligthart L, Wedenoja J, Dunham I, Neale BM, Palta P, Hamalainen E,
            Schurks M, Rose LM, Buring JE, Ridker PM, Steinberg S, Stefansson
            H, Jakobsson F, Lawlor DA, Evans DM, Ring SM, Farkkila M, Artto V,
            Kaunisto MA, Freilinger T, Schoenen J, Frants RR, Pelzer N, Weller
            CM, Zielman R, Heath AC, Madden PAF, Montgomery GW, Martin NG,
            Borck G, Gobel H, Heinze A, Heinze-Kuhn K, Williams FMK,
            Hartikainen AL, Pouta A, van den Ende J, Uitterlinden AG, Hofman A,
            Amin N, Hottenga JJ, Vink JM, Heikkila K, Alexander M,
            Muller-Myhsok B, Schreiber S, Meitinger T, Wichmann HE, Aromaa A,
            Eriksson JG, Traynor B, Trabzuni D, Rossin E, Lage K, Jacobs SBR,
            Gibbs JR, Birney E, Kaprio J, Penninx BW, Boomsma DI, van Duijn C,
            Raitakari O, Jarvelin MR, Zwart JA, Cherkas L, Strachan DP, Kubisch
            C, Ferrari MD, van den Maagdenberg AMJM, Dichgans M, Wessman M,
            Smith GD, Stefansson K, Daly MJ, Nyholt DR, Chasman D and Palotie
            A.
  CONSRTM   North American Brain Expression Consortium; UK Brain Expression
            Consortium
  TITLE     Genome-wide meta-analysis identifies new susceptibility loci for
            migraine
  JOURNAL   Nat Genet 45 (8), 912-917 (2013)
   PUBMED   23793025
REFERENCE   5  (residues 1 to 454)
  AUTHORS   Begley U, Sosa MS, Avivar-Valderas A, Patil A, Endres L, Estrada Y,
            Chan CT, Su D, Dedon PC, Aguirre-Ghiso JA and Begley T.
  TITLE     A human tRNA methyltransferase 9-like protein prevents tumour
            growth by regulating LIN9 and HIF1-alpha
  JOURNAL   EMBO Mol Med 5 (3), 366-383 (2013)
   PUBMED   23381944
  REMARK    GeneRIF: Study links hTRM9L and tRNA modifications to inhibition of
            tumour growth via LIN9 and HIF1-alpha-dependent mechanisms.
REFERENCE   6  (residues 1 to 454)
  AUTHORS   Lunetta KL, D'Agostino RB Sr, Karasik D, Benjamin EJ, Guo CY,
            Govindaraju R, Kiel DP, Kelly-Hayes M, Massaro JM, Pencina MJ,
            Seshadri S and Murabito JM.
  TITLE     Genetic correlates of longevity and selected age-related
            phenotypes: a genome-wide association study in the Framingham Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S13 (2007)
   PUBMED   17903295
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC135352.6, DA390356.1, DC334299.1, AB040889.1 and AW295329.1.
            On Jul 24, 2007 this sequence version replaced NP_065895.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2151119,
                              SAMEA2155550 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000524591.7/ ENSP00000432695.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..454
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22"
     Protein         1..454
                     /product="probable tRNA methyltransferase 9B isoform 1"
                     /note="probable tRNA methyltransferase 9-like protein;
                     probable tRNA methyltransferase 9B"
                     /calculated_mol_wt=51169
     Region          48..135
                     /region_name="Methyltransf_25"
                     /note="Methyltransferase domain; pfam13649"
                     /db_xref="CDD:433377"
     Site            order(51..57,71..72,90..92,108)
                     /site_type="other"
                     /note="S-adenosylmethionine binding site [chemical
                     binding]"
                     /db_xref="CDD:100107"
     Site            214
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q80WQ4; propagated from
                     UniProtKB/Swiss-Prot (Q9P272.3)"
     CDS             1..454
                     /gene="TRMT9B"
                     /gene_synonym="C8orf79; hTRM9L; KIAA1456; TRM9L"
                     /coded_by="NM_020844.3:494..1858"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS47808.1"
                     /db_xref="GeneID:57604"
                     /db_xref="HGNC:HGNC:26725"
                     /db_xref="MIM:615666"
ORIGIN      
        1 mdheaaqlek qhvhnvyest apyfsdlqsk awprvrqflq eqkpgsliad igcgtgkylk
       61 vnsqvhtvgc dycgplveia rnrgceamvc dnlnlpfrde gfdaiisigv ihhfstkqrr
      121 iraikemarv lvpggqlmiy vwameqknrh fekqdvlvpw nralcsqlfs essqsgrkrq
      181 cgyperghpy hppcsecscs vcfkeqcgsk rshsvgyepa martcfanis kegeeeygfy
      241 stlgksfrsw ffsrsldest lrkqiervrp lkntevwass tvtvqpsrhs sldfdhqepf
      301 stkgqsldee vfvesssgkh lewlrapgtl khlngdhqge mrrngggnfl dstntgvncv
      361 dagnieddnp saskilrris avdstdfnpd dtmsvedpqt dvldstafmr yyhvfregel
      421 csllkenvse lrilssgndh gnwciiaekk rgcd
//
LOCUS       NP_006355                765 aa            linear   PRI 25-DEC-2022
DEFINITION  protein transport protein Sec23A [Homo sapiens].
ACCESSION   NP_006355
VERSION     NP_006355.2
DBSOURCE    REFSEQ: accession NM_006364.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 765)
  AUTHORS   Tong Y, Zhou Z, Tang J and Feng Q.
  TITLE     MiR-29b-3p Inhibits the Inflammation Injury in Human Umbilical Vein
            Endothelial Cells by Regulating SEC23A
  JOURNAL   Biochem Genet 60 (6), 2000-2014 (2022)
   PUBMED   35190931
  REMARK    GeneRIF: MiR-29b-3p Inhibits the Inflammation Injury in Human
            Umbilical Vein Endothelial Cells by Regulating SEC23A.
REFERENCE   2  (residues 1 to 765)
  AUTHORS   Cattin-Ortola J, Welch LG, Maslen SL, Papa G, James LC and Munro S.
  TITLE     Sequences in the cytoplasmic tail of SARS-CoV-2 Spike facilitate
            expression at the cell surface and syncytia formation
  JOURNAL   Nat Commun 12 (1), 5333 (2021)
   PUBMED   34504087
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 765)
  AUTHORS   Chen X, Zhang J, Liu P, Wei Y, Wang X, Xiao J, Wang CC and Wang L.
  TITLE     Proteolytic processing of secretory pathway kinase Fam20C by site-1
            protease promotes biomineralization
  JOURNAL   Proc Natl Acad Sci U S A 118 (32) (2021)
   PUBMED   34349020
REFERENCE   4  (residues 1 to 765)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 765)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 765)
  AUTHORS   Kirchhausen T.
  TITLE     Three ways to make a vesicle
  JOURNAL   Nat Rev Mol Cell Biol 1 (3), 187-198 (2000)
   PUBMED   11252894
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol 2001 Mar;2(3):216]
REFERENCE   7  (residues 1 to 765)
  AUTHORS   Lippincott-Schwartz J, Roberts TH and Hirschberg K.
  TITLE     Secretory protein trafficking and organelle dynamics in living
            cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
REFERENCE   8  (residues 1 to 765)
  AUTHORS   Tang BL, Kausalya J, Low DY, Lock ML and Hong W.
  TITLE     A family of mammalian proteins homologous to yeast Sec24p
  JOURNAL   Biochem Biophys Res Commun 258 (3), 679-684 (1999)
   PUBMED   10329445
REFERENCE   9  (residues 1 to 765)
  AUTHORS   Pagano A, Letourneur F, Garcia-Estefania D, Carpentier JL, Orci L
            and Paccaud JP.
  TITLE     Sec24 proteins and sorting at the endoplasmic reticulum
  JOURNAL   J Biol Chem 274 (12), 7833-7840 (1999)
   PUBMED   10075675
REFERENCE   10 (residues 1 to 765)
  AUTHORS   Paccaud JP, Reith W, Carpentier JL, Ravazzola M, Amherdt M,
            Schekman R and Orci L.
  TITLE     Cloning and functional characterization of mammalian homologues of
            the COPII component Sec23
  JOURNAL   Mol Biol Cell 7 (10), 1535-1546 (1996)
   PUBMED   8898360
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC335582.1, BC036649.1,
            BM541968.1 and X97064.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 7, 2003 this sequence version replaced NP_006355.1.
            
            Summary: The protein encoded by this gene is a member of the SEC23
            subfamily of the SEC23/SEC24 family. It is part of a protein
            complex and found in the ribosome-free transitional face of the
            endoplasmic reticulum (ER) and associated vesicles. This protein
            has similarity to yeast Sec23p component of COPII. COPII is the
            coat protein complex responsible for vesicle budding from the ER.
            The encoded protein is suggested to play a role in the ER-Golgi
            protein trafficking. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC036649.1, SRR1803614.13931.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307712.11/ ENSP00000306881.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..765
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q21.1"
     Protein         1..765
                     /product="protein transport protein Sec23A"
                     /note="SEC23-related protein A; Sec23 homolog A, coat
                     complex II component"
                     /calculated_mol_wt=86030
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylthreonine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q15436.2)"
     Region          12..763
                     /region_name="PLN00162"
                     /note="transport protein sec23; Provisional"
                     /db_xref="CDD:215083"
     Site            308
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q15436.2)"
     Region          632..718
                     /region_name="Gelsolin-like. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15436.2)"
     CDS             1..765
                     /gene="SEC23A"
                     /gene_synonym="CLSD; hSec23A"
                     /coded_by="NM_006364.4:226..2523"
                     /db_xref="CCDS:CCDS9668.1"
                     /db_xref="GeneID:10484"
                     /db_xref="HGNC:HGNC:10701"
                     /db_xref="MIM:610511"
ORIGIN      
        1 mttylefiqq neerdgvrfs wnvwpssrle atrmvvpvaa lftplkerpd lppiqyepvl
       61 csrttcravl nplcqvdyra klwacnfcyq rnqfppsyag iselnqpael lpqfssieyv
      121 vlrgpqmpli flyvvdtcme dedlqalkes mqmslsllpp talvglitfg rmvqvhelgc
      181 egisksyvfr gtkdlsakql qemlglskvp ltqatrgpqv qqpppsnrfl qpvqkidmnl
      241 tdllgelqrd pwpvpqgkrp lrssgvalsi avgllectfp ntgarimmfi ggpatqgpgm
      301 vvgdelktpi rswhdidkdn akyvkkgtkh fealanraat tghvidiyac aldqtgllem
      361 kccpnltggy mvmgdsfnts lfkqtfqrvf tkdmhgqfkm gfggtleikt sreikisgai
      421 gpcvslnskg pcvseneigt ggtcqwkicg lsptttlaiy fevvnqhnap ipqggrgaiq
      481 fvtqyqhssg qrrirvttia rnwadaqtqi qniaasfdqe aaailmarla iyraeteegp
      541 dvlrwldrql irlcqkfgey hkddpssfrf setfslypqf mfhlrrssfl qvfnnspdes
      601 syyrhhfmrq dltqslimiq pilyaysfsg ppepvlldss siladrillm dtffqiliyh
      661 getiaqwrks gyqdmpeyen frhllqapvd daqeilhsrf pmpryidteh ggsqarflls
      721 kvnpsqthnn myawgqesga piltddvslq vfmdhlkkla vssaa
//
LOCUS       NP_001284575             250 aa            linear   PRI 25-DEC-2022
DEFINITION  troponin T, fast skeletal muscle isoform 4 [Homo sapiens].
ACCESSION   NP_001284575
VERSION     NP_001284575.1
DBSOURCE    REFSEQ: accession NM_001297646.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 250)
  AUTHORS   Lu J, Li H, Zhang H, Lin Z, Xu C, Xu X, Hu L, Luan Z, Lou Y and
            Tang S.
  TITLE     The distal arthrogryposis-linked p.R63C variant promotes the
            stability and nuclear accumulation of TNNT3
  JOURNAL   J Clin Lab Anal 35 (12), e24089 (2021)
   PUBMED   34766372
  REMARK    GeneRIF: The distal arthrogryposis-linked p.R63C variant promotes
            the stability and nuclear accumulation of TNNT3.
REFERENCE   2  (residues 1 to 250)
  AUTHORS   Nunez Lopez YO, Messi ML, Pratley RE, Zhang T and Delbono O.
  TITLE     Troponin T3 associates with DNA consensus sequence that overlaps
            with p53 binding motifs
  JOURNAL   Exp Gerontol 108, 35-40 (2018)
   PUBMED   29596868
  REMARK    GeneRIF: The TnT3 appears to contribute to age-related sarcopenia
            and possibly other age-related deficiencies such as muscle insulin
            resistance and beta cell dysfunction by interacting with
            TnT3-binding sequences in the promoter area of p53-related genes,
            among others, and consequently modulating the transcriptional
            regulation of these target genes.
REFERENCE   3  (residues 1 to 250)
  AUTHORS   Wei B and Jin JP.
  TITLE     TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and
            structure-function relationships
  JOURNAL   Gene 582 (1), 1-13 (2016)
   PUBMED   26774798
  REMARK    GeneRIF: Three homologous genes have evolved in vertebrates to
            encode three muscle type-specific TnT isoforms: TNNT1 for slow
            skeletal muscle TnT, TNNT2 for cardiac muscle TnT, and TNNT3 for
            fast skeletal muscle TnT.
            Review article
REFERENCE   4  (residues 1 to 250)
  AUTHORS   Vorster AA, Beighton P and Ramesar RS.
  TITLE     Digitotalar dysmorphism: Molecular elucidation
  JOURNAL   S Afr Med J 106 (3), 253-255 (2016)
   PUBMED   26915936
  REMARK    GeneRIF: The presence of the p.(Arg63His) missense mutation at
            position 63 of TNNT3 was confirmed through direct cycle sequencing
            of genomic DNA in six affected South African family members for
            whom DNA had been archived.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 250)
  AUTHORS   Lindstrom S, Thompson DJ, Paterson AD, Li J, Gierach GL, Scott C,
            Stone J, Douglas JA, dos-Santos-Silva I, Fernandez-Navarro P,
            Verghase J, Smith P, Brown J, Luben R, Wareham NJ, Loos RJ, Heit
            JA, Pankratz VS, Norman A, Goode EL, Cunningham JM, deAndrade M,
            Vierkant RA, Czene K, Fasching PA, Baglietto L, Southey MC, Giles
            GG, Shah KP, Chan HP, Helvie MA, Beck AH, Knoblauch NW, Hazra A,
            Hunter DJ, Kraft P, Pollan M, Figueroa JD, Couch FJ, Hopper JL,
            Hall P, Easton DF, Boyd NF, Vachon CM and Tamimi RM.
  TITLE     Genome-wide association study identifies multiple loci associated
            with both mammographic density and breast cancer risk
  JOURNAL   Nat Commun 5, 5303 (2014)
   PUBMED   25342443
  REMARK    Erratum:[Nat Commun. 2015;6:8358. PMID: 26349435]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 250)
  AUTHORS   Stefancsik R, Randall JD, Mao C and Sarkar S.
  TITLE     Structure and sequence of the human fast skeletal troponin T
            (TNNT3) gene: insight into the evolution of the gene and the origin
            of the developmentally regulated isoforms
  JOURNAL   Comp Funct Genomics 4 (6), 609-625 (2003)
   PUBMED   18629027
  REMARK    Erratum:[Comp Funct Genomics. 2004;5(2):205]
REFERENCE   7  (residues 1 to 250)
  AUTHORS   Lanfranchi,G., Muraro,T., Caldara,F., Pacchioni,B., Pallavicini,A.,
            Pandolfo,D., Toppo,S., Trevisan,S., Scarso,S. and Valle,G.
  TITLE     Identification of 4370 expressed sequence tags from a
            3'-end-specific cDNA library of human skeletal muscle by DNA
            sequencing and filter hybridization
  JOURNAL   Genome Res 6 (1), 35-42 (1996)
   PUBMED   8681137
REFERENCE   8  (residues 1 to 250)
  AUTHORS   Briggs MM, Maready M, Schmidt JM and Schachat F.
  TITLE     Identification of a fetal exon in the human fast troponin T gene
  JOURNAL   FEBS Lett 350 (1), 37-40 (1994)
   PUBMED   8062920
REFERENCE   9  (residues 1 to 250)
  AUTHORS   Wu QL, Jha PK, Raychowdhury MK, Du Y, Leavis PC and Sarkar S.
  TITLE     Isolation and characterization of human fast skeletal beta troponin
            T cDNA: comparative sequence analysis of isoforms and insight into
            the evolution of members of a multigene family
  JOURNAL   DNA Cell Biol 13 (3), 217-233 (1994)
   PUBMED   8172653
REFERENCE   10 (residues 1 to 250)
  AUTHORS   Chong,P.C. and Hodges,R.S.
  TITLE     Photochemical cross-linking between rabbit skeletal troponin
            subunits. Troponin I-troponin T interactions
  JOURNAL   J Biol Chem 257 (19), 11667-11672 (1982)
   PUBMED   7118902
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA897990.1, AK056968.1,
            AC051649.21 and F26088.1.
            
            Summary: The binding of Ca(2+) to the trimeric troponin complex
            initiates the process of muscle contraction. Increased Ca(2+)
            concentrations produce a conformational change in the troponin
            complex that is transmitted to tropomyosin dimers situated along
            actin filaments. The altered conformation permits increased
            interaction between a myosin head and an actin filament which,
            ultimately, produces a muscle contraction. The troponin complex has
            protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I
            binds to actin and inhibits actin-myosin interaction. Subunit T
            binds the troponin complex to the tropomyosin complex and is also
            required for Ca(2+)-mediated activation of actomyosin ATPase
            activity. There are 3 different troponin T genes that encode
            tissue-specific isoforms of subunit T for fast skeletal-, slow
            skeletal-, and cardiac-muscle. This gene encodes fast skeletal
            troponin T protein; also known as troponin T type 3. Alternative
            splicing results in multiple transcript variants encoding
            additional distinct troponin T type 3 isoforms. A developmentally
            regulated switch between fetal/neonatal and adult troponin T type 3
            isoforms occurs. Additional splice variants have been described but
            their biological validity has not been established. Mutations in
            this gene may cause distal arthrogryposis multiplex congenita type
            2B (DA2B). [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (5) differs in the 5' UTR and
            lacks an internal coding exon compared to transcript variant 1,
            resulting in a shorter isoform (4) missing an 8 aa segment compared
            to isoform 1. Variants 4, 5, and 9 all encode the same isoform (4).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056968.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158800, SAMEA2162946
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..250
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     Protein         1..250
                     /product="troponin T, fast skeletal muscle isoform 4"
                     /note="troponin T, fast skeletal muscle; troponin T type 3
                     (skeletal, fast)"
                     /calculated_mol_wt=29604
     Region          54..189
                     /region_name="Troponin"
                     /note="pfam00992"
                     /db_xref="CDD:425977"
     CDS             1..250
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /coded_by="NM_001297646.2:337..1089"
                     /note="isoform 4 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS41596.1"
                     /db_xref="GeneID:7140"
                     /db_xref="HGNC:HGNC:11950"
                     /db_xref="MIM:600692"
ORIGIN      
        1 msdeeveqve eqyeeeeeaq eeeevqeeek prpkltapki pegekvdfdd iqkkrqnkdl
       61 melqalidsh fearkkeeee lvalkeriek rraeraeqqr iraekererq nrlaeekarr
      121 eeedakrrae ddlkkkkals smganyssyl akadqkrgkk qtaremkkki laerrkplni
      181 dhlgedklrd kakelwetlh qleidkfefg eklkrqkydi ttlrsridqa qkhskkagtp
      241 akgkvggrwk
//
LOCUS       NP_001265400            1688 aa            linear   PRI 26-DEC-2022
DEFINITION  protein MON2 homolog isoform 4 [Homo sapiens].
ACCESSION   NP_001265400
VERSION     NP_001265400.1
DBSOURCE    REFSEQ: accession NM_001278471.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1688)
  AUTHORS   Li P, Wu Q, Yang XR and Sun T.
  TITLE     MicroRNA-133a-5p inhibiting metastatic capacity of renal clear cell
            carcinoma through regulating MON2
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (11), 5988-5995 (2020)
   PUBMED   32572912
  REMARK    GeneRIF: MicroRNA-133a-5p inhibiting metastatic capacity of renal
            clear cell carcinoma through regulating MON2.
REFERENCE   2  (residues 1 to 1688)
  AUTHORS   McGough IJ, de Groot REA, Jellett AP, Betist MC, Varandas KC,
            Danson CM, Heesom KJ, Korswagen HC and Cullen PJ.
  TITLE     SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A
            complex to mediate Wntless sorting and Wnt secretion
  JOURNAL   Nat Commun 9 (1), 3737 (2018)
   PUBMED   30213940
  REMARK    GeneRIF: an evolutionary conserved MON2:DOPEY2:ATP9A complex is
            required for SNX3 retromer mediation of Wntless sorting and Wnt
            secretion
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1688)
  AUTHORS   Mahajan D, Boh BK, Zhou Y, Chen L, Cornvik TC, Hong W and Lu L.
  TITLE     Mammalian Mon2/Ysl2 regulates endosome-to-Golgi trafficking but
            possesses no guanine nucleotide exchange activity toward Arl1
            GTPase
  JOURNAL   Sci Rep 3, 3362 (2013)
   PUBMED   24285343
  REMARK    GeneRIF: Mon2 is involved in endosome-to-Golgi trafficking as its
            depletion accelerated the delivery of furin and CI-M6PR to Golgi
            after endocytosis.
            Erratum:[Sci Rep. 2016 Sep 22;6:33619. PMID: 27654351]
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1688)
  AUTHORS   Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A,
            Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V,
            Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I,
            Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat
            JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang
            W, Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd
            PM, Hayward C, Aulchenko Y, Campbell H and Rudan I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   5  (residues 1 to 1688)
  AUTHORS   Tomita Y, Noda T, Fujii K, Watanabe T, Morikawa Y and Kawaoka Y.
  TITLE     The cellular factors Vps18 and Mon2 are required for efficient
            production of infectious HIV-1 particles
  JOURNAL   J Virol 85 (11), 5618-5627 (2011)
   PUBMED   21450827
  REMARK    GeneRIF: Depletion of hVps18 or hMon2 reduced the efficient
            production of infectious HIV-1 virions in human cells.
REFERENCE   6  (residues 1 to 1688)
  AUTHORS   Singer-Kruger B, Lasic M, Burger AM, Hausser A, Pipkorn R and Wang
            Y.
  TITLE     Yeast and human Ysl2p/hMon2 interact with Gga adaptors and mediate
            their subcellular distribution
  JOURNAL   EMBO J 27 (10), 1423-1435 (2008)
   PUBMED   18418388
  REMARK    GeneRIF: Ysl2p represents an essential, evolutionarily conserved
            member of a network controlling direct binding and membrane docking
            of Ggas.
REFERENCE   7  (residues 1 to 1688)
  AUTHORS   Gillingham AK, Whyte JR, Panic B and Munro S.
  TITLE     Mon2, a relative of large Arf exchange factors, recruits Dop1 to
            the Golgi apparatus
  JOURNAL   J Biol Chem 281 (4), 2273-2280 (2006)
   PUBMED   16301316
REFERENCE   8  (residues 1 to 1688)
  AUTHORS   Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G,
            Croughton K, Cruciat C, Eberhard D, Gagneur J, Ghidelli S, Hopf C,
            Huhse B, Mangano R, Michon AM, Schirle M, Schlegl J, Schwab M,
            Stein MA, Bauer A, Casari G, Drewes G, Gavin AC, Jackson DB,
            Joberty G, Neubauer G, Rick J, Kuster B and Superti-Furga G.
  TITLE     A physical and functional map of the human TNF-alpha/NF-kappa B
            signal transduction pathway
  JOURNAL   Nat Cell Biol 6 (2), 97-105 (2004)
   PUBMED   14743216
  REMARK    Erratum:[Nat Cell Biol. 2004 May;6(5):465]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA125763.1, BC144309.1 and AC026115.27.
            
            Transcript Variant: This variant (4) uses an alternate in-frame
            splice site at the 3' end of an exon and lacks an alternate
            in-frame exon compared to variant 1. The resulting isoform (4) has
            the same N- and C-termini but is shorter compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC144309.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149004, SAMEA2149178
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1688
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.1"
     Protein         1..1688
                     /product="protein MON2 homolog isoform 4"
                     /note="protein MON2 homolog; MON2 regulator of
                     endosome-to-Golgi trafficking"
                     /calculated_mol_wt=187190
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q7Z3U7.3)"
     Region          9..183
                     /region_name="DCB"
                     /note="dimerization and cyclophilin-binding domain of
                     Mon2; pfam16213"
                     /db_xref="CDD:435221"
     Site            205
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q7Z3U7.3)"
     Region          212..381
                     /region_name="Sec7_N"
                     /note="Guanine nucleotide exchange factor in Golgi
                     transport N-terminal; pfam12783"
                     /db_xref="CDD:432782"
     Region          511..538
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3U7.3)"
     Site            537
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q80TL7; propagated from
                     UniProtKB/Swiss-Prot (Q7Z3U7.3)"
     Region          <553..>1059
                     /region_name="PLN03076"
                     /note="ARF guanine nucleotide exchange factor (ARF-GEF);
                     Provisional"
                     /db_xref="CDD:215560"
     Region          <849..908
                     /region_name="DUF1981"
                     /note="Domain of unknown function (DUF1981); pfam09324"
                     /db_xref="CDD:430526"
     Region          911..1679
                     /region_name="Mon2_C"
                     /note="C-terminal region of Mon2 protein; pfam16206"
                     /db_xref="CDD:435215"
     CDS             1..1688
                     /gene="MON2"
                     /coded_by="NM_001278471.2:383..5449"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS61175.1"
                     /db_xref="GeneID:23041"
                     /db_xref="HGNC:HGNC:29177"
                     /db_xref="MIM:616822"
ORIGIN      
        1 msgtsspeav kkllenmqsd lralsleckk kfppvkeaae sgiikvktia arnteilaal
       61 kenssevvqp flmgcgtkep kitqlclaai qrlmshevvs etaagniinm lwqlmensle
      121 elkllqtvlv llttntvvhd ealskaivlc frlhftkdni tnntaaatvr qvvtvvferm
      181 vaederhrdi ieqpvlvqgn snrrsvstlk pcakdaymlf qdlcqlvnad apywlvgmte
      241 mtrtfglell esvlndfpqv flqhqefsfl lkervcplvi klfspnikfr qgsstssspa
      301 pvekpyfpic mrllrvvsvl ikqfysllvt eceiflsllv kfldadkpqw lravavesih
      361 rfcvqpqllr sfcqsydmkq hstkvfrdiv nalgsfiqsl flvpptgnpa tsnqagnnnl
      421 ggsvsapans gmvgigggvt llpafeyrgt wipiltitvq gsakatylem ldkvepptip
      481 egyamsvafh clldlvrgit smiegelgel etecqtttee gssptqsteq qdlqstsdqm
      541 dkeivsravw eemvnacwcg llaalsllld astdeaaten ilkaeltmaa lcgrlglvts
      601 rdafitaick aysvqgqsvm mispsseshq qvvavgqpla vqpqgtvmlt skniqcmrtl
      661 lnlahchgav lgtswqlvla tlqhlvwilg lkpssggalk pgravegpst vlttavmtdl
      721 pvisnilsrl fessqylddv slhhlinalc slsleamdma ygnnkepslf avaklletgl
      781 vnmhrieilw rpltghllev cqhpnsrmre wgaealtsli kagltfnhdp plsqnqrlql
      841 lllnplkems ninhpdirlk qlecvlqilq sqgdslgpgw plvlgvmgai rndqgeslir
      901 tafqclqlvv tdflptmpct clqivvdvag sfglhnqeln isltsigllw nisdyffqrg
      961 etiekelnke eaaqqkqaee kgvvlnrpfh pappfdclwl clyaklgelc vdprpavrks
     1021 agqtlfstig ahgtllqhst whtviwkvlf hlldrvress ttadkekies gggnilihhs
     1081 rdtaekqwae twvltlagva rifntrryll qplgdfsraw dvlldhiqsa alsknnevsl
     1141 aalksfqeil qivspvrdsd kpetppvvnv pvpvligpis gmsrpfvrtd sigeklgrys
     1201 sseppivtde ledlnlwwaa wntwyrigse stkppitfdk ltfipsqpfl taliqifpal
     1261 yqhiktgfnm ddlqklgvil hsaisvpiss daspfilpsy teavltslqe avltaldvlq
     1321 kaicvgpenm qimypaifdq llafvefsck ppqygqletk hianakynqa ewvalnyvpf
     1381 aerslevvvd lyqktachka vvnekvlqni iktlrvplsl kyscpsestw klavssllrv
     1441 lsiglpvarq hassgkfdsm wpelantfed flftksippd nlsiqefqrn enidvevvql
     1501 isneilpyan fipkefvgqi mtmlnkgsih sqsssfteae idirlreefs kmcfetllqf
     1561 sfsnkvttpq egyisrmals vllkrsqdvl hryiederls gkcplprqqv teiifvlkav
     1621 stlidslkkt qpenvdgntw aqvialyptl vecitcssse vcsalkealv pfkdfmqppa
     1681 srvqnges
//
LOCUS       NP_037501                387 aa            linear   PRI 26-DEC-2022
DEFINITION  DNA (cytosine-5)-methyltransferase 3-like isoform 1 [Homo sapiens].
ACCESSION   NP_037501
VERSION     NP_037501.2
DBSOURCE    REFSEQ: accession NM_013369.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 387)
  AUTHORS   Laufer BI, Gomez JA, Jianu JM and LaSalle JM.
  TITLE     Stable DNMT3L overexpression in SH-SY5Y neurons recreates a facet
            of the genome-wide Down syndrome DNA methylation signature
  JOURNAL   Epigenetics Chromatin 14 (1), 13 (2021)
   PUBMED   33750431
  REMARK    GeneRIF: Stable DNMT3L overexpression in SH-SY5Y neurons recreates
            a facet of the genome-wide Down syndrome DNA methylation signature.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 387)
  AUTHORS   Fathima T, Arumugam P, Girija As S and Priyadharsini JV.
  TITLE     Decoding the Genetic Alterations in Genes of DNMT Family (DNA
            Methyl-Transferase) and their Association with Head and Neck
            Squamous Cell Carcinoma
  JOURNAL   Asian Pac J Cancer Prev 21 (12), 3605-3612 (2020)
   PUBMED   33369458
  REMARK    GeneRIF: Decoding the Genetic Alterations in Genes of DNMT Family
            (DNA Methyl-Transferase) and their Association with Head and Neck
            Squamous Cell Carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 387)
  AUTHORS   Taei A, Kiani T, Taghizadeh Z, Moradi S, Samadian A, Mollamohammadi
            S, Sharifi-Zarchi A, Guenther S, Akhlaghpour A, Asgari Abibeiglou
            B, Najar-Asl M, Karamzadeh R, Khalooghi K, Braun T, Hassani SN and
            Baharvand H.
  TITLE     Temporal activation of LRH-1 and RAR-gamma in human pluripotent
            stem cells induces a functional naive-like state
  JOURNAL   EMBO Rep 21 (10), e47533 (2020)
   PUBMED   33252195
REFERENCE   4  (residues 1 to 387)
  AUTHORS   Lin CC, Chen YP, Yang WZ, Shen JCK and Yuan HS.
  TITLE     Structural insights into CpG-specific DNA methylation by human DNA
            methyltransferase 3B
  JOURNAL   Nucleic Acids Res 48 (7), 3949-3961 (2020)
   PUBMED   32083663
REFERENCE   5  (residues 1 to 387)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 387)
  AUTHORS   Deplus R, Brenner C, Burgers WA, Putmans P, Kouzarides T, de
            Launoit Y and Fuks F.
  TITLE     Dnmt3L is a transcriptional repressor that recruits histone
            deacetylase
  JOURNAL   Nucleic Acids Res 30 (17), 3831-3838 (2002)
   PUBMED   12202768
REFERENCE   7  (residues 1 to 387)
  AUTHORS   Aapola U, Liiv I and Peterson P.
  TITLE     Imprinting regulator DNMT3L is a transcriptional repressor
            associated with histone deacetylase activity
  JOURNAL   Nucleic Acids Res 30 (16), 3602-3608 (2002)
   PUBMED   12177302
REFERENCE   8  (residues 1 to 387)
  AUTHORS   Burgers,W.A., Fuks,F. and Kouzarides,T.
  TITLE     DNA methyltransferases get connected to chromatin
  JOURNAL   Trends Genet 18 (6), 275-277 (2002)
   PUBMED   12044346
REFERENCE   9  (residues 1 to 387)
  AUTHORS   Hata K, Okano M, Lei H and Li E.
  TITLE     Dnmt3L cooperates with the Dnmt3 family of de novo DNA
            methyltransferases to establish maternal imprints in mice
  JOURNAL   Development 129 (8), 1983-1993 (2002)
   PUBMED   11934864
REFERENCE   10 (residues 1 to 387)
  AUTHORS   Aapola U, Kawasaki K, Scott HS, Ollila J, Vihinen M, Heino M,
            Shintani A, Kawasaki K, Minoshima S, Krohn K, Antonarakis SE,
            Shimizu N, Kudoh J and Peterson P.
  TITLE     Isolation and initial characterization of a novel zinc finger gene,
            DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3
            gene family
  JOURNAL   Genomics 65 (3), 293-298 (2000)
   PUBMED   10857753
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF194032.1, BC002560.2 and
            BQ028660.1.
            On Mar 6, 2003 this sequence version replaced NP_037501.1.
            
            Summary: CpG methylation is an epigenetic modification that is
            important for embryonic development, imprinting, and X-chromosome
            inactivation. Studies in mice have demonstrated that DNA
            methylation is required for mammalian development. This gene
            encodes a nuclear protein with similarity to DNA
            methyltransferases, but is not thought to function as a DNA
            methyltransferase as it does not contain the amino acid residues
            necessary for methyltransferase activity. However, it does
            stimulate de novo methylation by DNA cytosine methyltransferase 3
            alpha and is thought to be required for the establishment of
            maternal genomic imprints. This protein also mediates
            transcriptional repression through interaction with histone
            deacetylase 1. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2012].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF194032.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA1970526 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..387
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..387
                     /product="DNA (cytosine-5)-methyltransferase 3-like
                     isoform 1"
                     /note="human cytosine-5-methyltransferase 3-like protein;
                     DNA (cytosine-5-)-methyltransferase 3-like"
                     /calculated_mol_wt=43539
     Region          47..169
                     /region_name="FYVE_like_SF"
                     /note="FYVE domain like superfamily; cl28890"
                     /db_xref="CDD:333710"
     Site            order(104..109,116,140)
                     /site_type="other"
                     /note="phosphatidylinositol 3-phosphate binding site
                     [chemical binding]"
                     /db_xref="CDD:277249"
     CDS             1..387
                     /gene="DNMT3L"
                     /coded_by="NM_013369.4:166..1329"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13705.1"
                     /db_xref="GeneID:29947"
                     /db_xref="HGNC:HGNC:2980"
                     /db_xref="MIM:606588"
ORIGIN      
        1 maaipaldpe aepsmdvilv gsselsssvs pgtgrdliay evkanqrnie diciccgslq
       61 vhtqhplfeg gicapckdkf ldalflyddd gyqsycsicc sgetllicgn pdctrcycfe
      121 cvdslvgpgt sgkvhamsnw vcylclpssr sgllqrrrkw rsqlkafydr esenplemfe
      181 tvpvwrrqpv rvlslfedik keltslgfle sgsdpgqlkh vvdvtdtvrk dveewgpfdl
      241 vygatpplgh tcdrppswyl fqfhrllqya rpkpgsprpf fwmfvdnlvl nkedldvasr
      301 flemepvtip dvhggslqna vrvwsnipai rssrhwalvs eeelsllaqn kqssklaakw
      361 ptklvkncfl plreyfkyfs teltssl
//
LOCUS       NP_695014                405 aa            linear   PRI 26-DEC-2022
DEFINITION  hyaluronidase-1 isoform 2 precursor [Homo sapiens].
ACCESSION   NP_695014
VERSION     NP_695014.1
DBSOURCE    REFSEQ: accession NM_153282.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 405)
  AUTHORS   Wu KX, Yeo NJY, Ng CY, Chioh FWJ, Fan Q, Tian X, Yang B, Narayanan
            G, Tay HM, Hou HW, Dunn NR, Su X, Cheung CMG and Cheung C.
  TITLE     Hyaluronidase-1-mediated glycocalyx impairment underlies
            endothelial abnormalities in polypoidal choroidal vasculopathy
  JOURNAL   BMC Biol 20 (1), 47 (2022)
   PUBMED   35164755
  REMARK    GeneRIF: Hyaluronidase-1-mediated glycocalyx impairment underlies
            endothelial abnormalities in polypoidal choroidal vasculopathy.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 405)
  AUTHORS   Liu J, Deng Y, Wang Z, Mo B, Wei J, Cheng Z, Peng Q, Wei G, Li J,
            Shu Y, Yang H, Fang S, Luo G, Yang S, Wang Y, Zhu J, Yang J, Wu M,
            Xu X, Ge R, Zhang X, Xiong W, Wang X and Li Z.
  TITLE     A nonsynonymous polymorphism (rs117179004, T392M) of hyaluronidase
            1 (HYAL1) is associated with increased risk of idiopathic pulmonary
            fibrosis in Southern Han Chinese
  JOURNAL   J Clin Lab Anal 35 (6), e23782 (2021)
   PUBMED   33942374
  REMARK    GeneRIF: A nonsynonymous polymorphism (rs117179004, T392M) of
            hyaluronidase 1 (HYAL1) is associated with increased risk of
            idiopathic pulmonary fibrosis in Southern Han Chinese.
REFERENCE   3  (residues 1 to 405)
  AUTHORS   Meszaros M, Kis A, Kunos L, Tarnoki AD, Tarnoki DL, Lazar Z and
            Bikov A.
  TITLE     The role of hyaluronic acid and hyaluronidase-1 in obstructive
            sleep apnoea
  JOURNAL   Sci Rep 10 (1), 19484 (2020)
   PUBMED   33173090
  REMARK    GeneRIF: The role of hyaluronic acid and hyaluronidase-1 in
            obstructive sleep apnoea.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 405)
  AUTHORS   Leng D, Huang X, Yi J, Zhao H and Zhang Y.
  TITLE     HYAL1 Is Downregulated in Idiopathic Pulmonary Fibrosis and
            Inhibits HFL-1 Fibroblast Proliferation When Upregulated
  JOURNAL   Biomed Res Int 2020, 3659451 (2020)
   PUBMED   32258117
  REMARK    GeneRIF: HYAL1 Is Downregulated in Idiopathic Pulmonary Fibrosis
            and Inhibits HFL-1 Fibroblast Proliferation When Upregulated.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 405)
  AUTHORS   Li L, Tian FY, Yuan Y, Zhang T, Yang WB, Kong R, Wang G, Chen H,
            Chen HZ, Hu JS, Zhang GQ, Zhao ZJ, Wang XL, Li GQ and Sun B.
  TITLE     HYAL-1-induced autophagy facilitates pancreatic fistula for
            patients who underwent pancreaticoduodenectomy
  JOURNAL   FASEB J 34 (2), 2524-2540 (2020)
   PUBMED   31908026
  REMARK    GeneRIF: HYAL-1-induced autophagy facilitates pancreatic fistula
            for patients who underwent pancreaticoduodenectomy.
REFERENCE   6  (residues 1 to 405)
  AUTHORS   Csoka AB, Frost GI, Heng HH, Scherer SW, Mohapatra G and Stern R.
  TITLE     The hyaluronidase gene HYAL1 maps to chromosome 3p21.2-p21.3 in
            human and 9F1-F2 in mouse, a conserved candidate tumor suppressor
            locus
  JOURNAL   Genomics 48 (1), 63-70 (1998)
   PUBMED   9503017
  REMARK    Erratum:[Genomics. 2004 Jul;84(1):227.. Csoka, T B [corrected to
            Csoka, A B]]
REFERENCE   7  (residues 1 to 405)
  AUTHORS   Csoka AB, Frost GI, Wong T and Stern R.
  TITLE     Purification and microsequencing of hyaluronidase isozymes from
            human urine
  JOURNAL   FEBS Lett 417 (3), 307-310 (1997)
   PUBMED   9409739
  REMARK    Erratum:[FEBS Lett. 2004 May 21;566(1-3):316.. Csoka, T B
            [corrected to Csoka, A B]]
REFERENCE   8  (residues 1 to 405)
  AUTHORS   Frost GI, Csoka AB, Wong T and Stern R.
  TITLE     Purification, cloning, and expression of human plasma hyaluronidase
  JOURNAL   Biochem Biophys Res Commun 236 (1), 10-15 (1997)
   PUBMED   9223416
  REMARK    Erratum:[Biochem Biophys Res Commun. 2004 Jun 25;319(2):705..
            Csoka, T B [corrected to Csoka, A B]]
REFERENCE   9  (residues 1 to 405)
  AUTHORS   Natowicz MR, Short MP, Wang Y, Dickersin GR, Gebhardt MC, Rosenthal
            DI, Sims KB and Rosenberg AE.
  TITLE     Clinical and biochemical manifestations of hyaluronidase deficiency
  JOURNAL   N Engl J Med 335 (14), 1029-1033 (1996)
   PUBMED   8793927
REFERENCE   10 (residues 1 to 405)
  AUTHORS   Wei MH, Latif F, Bader S, Kashuba V, Chen JY, Duh FM, Sekido Y, Lee
            CC, Geil L, Kuzmin I, Zabarovsky E, Klein G, Zbar B, Minna JD and
            Lerman MI.
  TITLE     Construction of a 600-kilobase cosmid clone contig and generation
            of a transcriptional map surrounding the lung cancer tumor
            suppressor gene (TSG) locus on human chromosome 3p21.3: progress
            toward the isolation of a lung cancer TSG
  JOURNAL   Cancer Res 56 (7), 1487-1492 (1996)
   PUBMED   8603390
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA566755.1, AF502904.1 and
            BC035695.1.
            
            Summary: This gene encodes a lysosomal hyaluronidase.
            Hyaluronidases intracellularly degrade hyaluronan, one of the major
            glycosaminoglycans of the extracellular matrix. Hyaluronan is
            thought to be involved in cell proliferation, migration and
            differentiation. This enzyme is active at an acidic pH and is the
            major hyaluronidase in plasma. Mutations in this gene are
            associated with mucopolysaccharidosis type IX, or hyaluronidase
            deficiency. The gene is one of several related genes in a region of
            chromosome 3p21.3 associated with tumor suppression. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            lacks an alternate in-frame exon compared to variant 8. The
            resulting isoform (2) has the same N- and C-termini but is shorter
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF502904.1, ERR3218372.603941.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..405
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..405
                     /product="hyaluronidase-1 isoform 2 precursor"
                     /EC_number="3.2.1.35"
                     /note="plasma hyaluronidase; tumor suppressor LUCA-1;
                     luCa-1; lung carcinoma protein 1; hyaluronoglucosaminidase
                     1"
                     /calculated_mol_wt=42920
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2243
     mat_peptide     22..405
                     /product="hyaluronidase-1 isoform 2"
                     /calculated_mol_wt=42920
     Region          26..320
                     /region_name="Glyco_hydro_56"
                     /note="Hyaluronidase; pfam01630"
                     /db_xref="CDD:426355"
     CDS             1..405
                     /gene="HYAL1"
                     /gene_synonym="HYAL-1; LUCA1; MPS9; NAT6"
                     /coded_by="NM_153282.3:134..1351"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS2817.1"
                     /db_xref="GeneID:3373"
                     /db_xref="HGNC:HGNC:5320"
                     /db_xref="MIM:607071"
ORIGIN      
        1 maahllpica lfltlldmaq gfrgpllpnr pfttvwnant qwclerhgvd vdvsvfdvva
       61 npgqtfrgpd mtifyssqlg typyytptge pvfgglpqna sliahlartf qdilaaipap
      121 dfsglavidw eawrprwafn wdtkdiyrqr sralvqaqhp dwpapqveav aqdqfqgaar
      181 awmagtlqlg ralrprglwg fygfpdcyny dflspnytgq cpsgiraqnd qlgwlwgqsr
      241 alypsiympa vlegtgksqm yvqhrvaeaf rvavaagdpn lpvlpyvqif ydttnhflpl
      301 escqaikeym dttlgpfiln vtsgallcsq alcsghgrcv rrtshpkall llnpasfsiq
      361 ltpgggplsl rgalsledqa qmavefkcrc ypgwqapwce rksmw
//
LOCUS       NP_062831                586 aa            linear   PRI 27-DEC-2022
DEFINITION  CTP synthase 2 [Homo sapiens].
ACCESSION   NP_062831
VERSION     NP_062831.3
DBSOURCE    REFSEQ: accession NM_019857.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 586)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 586)
  AUTHORS   Lynch EM and Kollman JM.
  TITLE     Coupled structural transitions enable highly cooperative regulation
            of human CTPS2 filaments
  JOURNAL   Nat Struct Mol Biol 27 (1), 42-48 (2020)
   PUBMED   31873303
  REMARK    GeneRIF: Cryo-EM structures reveal that CTPS2 filaments dynamically
            switch between active and inactive forms in response to changes in
            substrate and product levels.
REFERENCE   3  (residues 1 to 586)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 586)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 586)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam
            S, MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 586)
  AUTHORS   Tan WL, Bhattacharya B, Loh M, Balasubramanian I, Akram M, Dong D,
            Wong L, Thakkar B, Salto-Tellez M, Soo RA, Fichtner I, Iacopetta B
            and Soong R.
  TITLE     Low cytosine triphosphate synthase 2 expression renders resistance
            to 5-fluorouracil in colorectal cancer
  JOURNAL   Cancer Biol Ther 11 (6), 599-608 (2011)
   PUBMED   21378502
  REMARK    GeneRIF: Low CTPS2 expression may be a rationally-based determinant
            of 5FU resistance.
REFERENCE   7  (residues 1 to 586)
  AUTHORS   Gamazon ER, Im HK, O'Donnell PH, Ziliak D, Stark AL, Cox NJ, Dolan
            ME and Huang RS.
  TITLE     Comprehensive evaluation of the contribution of X chromosome genes
            to platinum sensitivity
  JOURNAL   Mol Cancer Ther 10 (3), 472-480 (2011)
   PUBMED   21252287
  REMARK    GeneRIF: CTPS2 was identified by genome-wide gene expression
            analyses as correlated with cellular sensitivity to cisplatin and
            carboplatin.
REFERENCE   8  (residues 1 to 586)
  AUTHORS   Kassel KM, Au da R, Higgins MJ, Hines M and Graves LM.
  TITLE     Regulation of human cytidine triphosphate synthetase 2 by
            phosphorylation
  JOURNAL   J Biol Chem 285 (44), 33727-33736 (2010)
   PUBMED   20739275
  REMARK    GeneRIF: analysis of the kinetic properties of hCTPS1 and hCTPS2,
            and determination that Ser(68) is a major site of CTPS2 regulation
            by phosphorylation
REFERENCE   9  (residues 1 to 586)
  AUTHORS   Han GS, Sreenivas A, Choi MG, Chang YF, Martin SS, Baldwin EP and
            Carman GM.
  TITLE     Expression of Human CTP synthetase in Saccharomyces cerevisiae
            reveals phosphorylation by protein kinase A
  JOURNAL   J Biol Chem 280 (46), 38328-38336 (2005)
   PUBMED   16179339
REFERENCE   10 (residues 1 to 586)
  AUTHORS   van Kuilenburg AB, Meinsma R, Vreken P, Waterham HR and van Gennip
            AH.
  TITLE     Identification of a cDNA encoding an isoform of human CTP
            synthetase
  JOURNAL   Biochim Biophys Acta 1492 (2-3), 548-552 (2000)
   PUBMED   10899599
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL445467.6 and AC073909.25.
            On Feb 25, 2003 this sequence version replaced NP_062831.2.
            
            Summary: The protein encoded by this gene catalyzes the formation
            of CTP from UTP with the concomitant deamination of glutamine to
            glutamate. This protein is the rate-limiting enzyme in the
            synthesis of cytosine nucleotides, which play an important role in
            various metabolic processes and provide the precursors necessary
            for the synthesis of RNA and DNA. Cancer cells that exhibit
            increased cell proliferation also exhibit an increased activity of
            this encoded protein. Thus, this protein is an attractive target
            for selective chemotherapy. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (1) differs in the 5' UTR compared
            to variant 3. Variants 1, 2 and 3 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.26488.1,
                                           SRR1803611.260745.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..586
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     Protein         1..586
                     /product="CTP synthase 2"
                     /EC_number="6.3.4.2"
                     /note="CTP synthetase type 2; cytidine 5'-triphosphate
                     synthetase 2; UTP-ammonia ligase 2; CTP synthase II"
                     /calculated_mol_wt=65547
     Region          1..557
                     /region_name="PLN02327"
                     /note="CTP synthase"
                     /db_xref="CDD:215186"
     Region          563..586
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRF8.1)"
     Site            568
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9NRF8.1)"
     Site            571
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9NRF8.1)"
     Site            574
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9NRF8.1)"
     CDS             1..586
                     /gene="CTPS2"
                     /gene_synonym="GATD5B"
                     /coded_by="NM_019857.5:229..1989"
                     /db_xref="CCDS:CCDS14175.1"
                     /db_xref="GeneID:56474"
                     /db_xref="HGNC:HGNC:2520"
                     /db_xref="MIM:300380"
ORIGIN      
        1 mkyilvtggv isgigkgiia ssigtilksc glrvtaikid pyinidagtf spyehgevfv
       61 lndggevdld lgnyerfldi nlykdnnitt gkiyqhvink errgdylgkt vqvvphitda
      121 vqewvmnqak vpvdgnkeep qicvielggt igdiegmpfv eafrqfqfka krenfcnihv
      181 slvpqlsatg eqktkptqns vralrglgls pdlivcrsst piemavkeki smfchvnpeq
      241 vicihdvsst yrvpvlleeq sivkyfkerl hlpigdsasn llfkwrnmad ryerlqkics
      301 ialvgkytkl rdcyasvfka lehsalainh klnlmyidsi dlekiteted pvkfheawqk
      361 lckadgilvp ggfgirgtlg klqaiswart kkipflgvcl gmqlaviefa rnclnlkdad
      421 stefrpnapv plvidmpehn pgnlggtmrl girrtvfkte nsilrklygd vpfieerhrh
      481 rfevnpnlik qfeqndlsfv gqdvdgdrme iielanhpyf vgvqfhpefs srpmkpsppy
      541 lglllaatgn lnaylqqgck lsssdrysda sddsfsepri aeleis
//
LOCUS       NP_001358178             320 aa            linear   PRI 27-DEC-2022
DEFINITION  protein FAM131B isoform e [Homo sapiens].
ACCESSION   NP_001358178
VERSION     NP_001358178.1
DBSOURCE    REFSEQ: accession NM_001371249.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 320)
  AUTHORS   Orvedahl A, Sumpter R Jr, Xiao G, Ng A, Zou Z, Tang Y, Narimatsu M,
            Gilpin C, Sun Q, Roth M, Forst CV, Wrana JL, Zhang YE, Luby-Phelps
            K, Xavier RJ, Xie Y and Levine B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   2  (residues 1 to 320)
  AUTHORS   Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
            Safari A, Liu D and Songyang Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093673.4.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.179085.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..320
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     Protein         1..320
                     /product="protein FAM131B isoform e"
                     /note="protein FAM131B"
                     /calculated_mol_wt=34216
     Region          27..313
                     /region_name="FAM131"
                     /note="Putative cell signalling; pfam15010"
                     /db_xref="CDD:434388"
     CDS             1..320
                     /gene="FAM131B"
                     /coded_by="NM_001371249.1:122..1084"
                     /note="isoform e is encoded by transcript variant e"
                     /db_xref="GeneID:9715"
                     /db_xref="HGNC:HGNC:22202"
                     /db_xref="MIM:619282"
ORIGIN      
        1 mdstsslhgs slhrpstels medttsilpk lkrnsnaygi galakssfsg isrsmkdhvt
       61 kptamgqgrv ahmiewqgwg ktpavqpqhs hesvrrdtda ysdlsdgeke arflagvmeq
      121 faiseatlma wssmdgedms vnstqeplgc nysdnyqelm dsqdalaqap mdgwphsyvs
      181 qgmyclgssd aweasdqsli aspatgsylg pafddsqpsl hemgpsqpas gysalepppl
      241 lggdtdwapg vgavdlargp aeeekrplap eeeedagcrd leslspredp emstalsrkv
      301 sdvtssgvqs fdeeegeann
//
LOCUS       NP_001258811             193 aa            linear   PRI 28-DEC-2022
DEFINITION  leucine-rich repeat-containing protein 73 isoform 2 [Homo sapiens].
ACCESSION   NP_001258811
VERSION     NP_001258811.1
DBSOURCE    REFSEQ: accession NM_001271882.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 193)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 193)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD,
            Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker
            DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP,
            Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY,
            Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman
            LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M,
            Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD,
            Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ,
            Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S,
            Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL,
            Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL,
            Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson
            CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK,
            Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR,
            Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M,
            Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A,
            Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K,
            Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore
            B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM,
            Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith
            M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G,
            Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A,
            Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL,
            Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt
            JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard
            T, Sulston JE, Dunham I, Rogers J and Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355802.13, HY024930.1, BC107130.2 and BC108661.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at an
            downstream in-frame start site, compared to variant 1. The encoded
            isoform (2) has a shorter N-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC107130.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161674 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..193
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     Protein         1..193
                     /product="leucine-rich repeat-containing protein 73
                     isoform 2"
                     /note="leucine-rich repeat-containing protein 73"
                     /calculated_mol_wt=20284
     Region          <19..132
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     CDS             1..193
                     /gene="LRRC73"
                     /gene_synonym="C6orf154"
                     /coded_by="NM_001271882.2:239..820"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:221424"
                     /db_xref="HGNC:HGNC:21375"
ORIGIN      
        1 mlgdeainli cgllppdgak sglkeltlsa npgitpkgws rlaiavahss qvrvlnldyn
       61 plgdhvagml avavassrtl evldlegtgl tnqsaqtlld mvenyptalr slvlaensis
      121 pelqqqicdl lsegeeeeev aggagdtqew ergrepaahq rgssswmcps dpssqmvlmt
      181 sglgdsllae tem
//
LOCUS       NP_001307717              75 aa            linear   PRI 29-DEC-2022
DEFINITION  zinc finger protein 544 isoform 11 [Homo sapiens].
ACCESSION   NP_001307717
VERSION     NP_001307717.1
DBSOURCE    REFSEQ: accession NM_001320788.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 75)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 75)
  AUTHORS   Sugis E, Dauvillier J, Leontjeva A, Adler P, Hindie V, Moncion T,
            Collura V, Daudin R, Loe-Mie Y, Herault Y, Lambert JC, Hermjakob H,
            Pupko T, Rain JC, Xenarios I, Vilo J, Simonneau M and Peterson H.
  TITLE     HENA, heterogeneous network-based data set for Alzheimer's disease
  JOURNAL   Sci Data 6 (1), 151 (2019)
   PUBMED   31413325
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 75)
  AUTHORS   Lasky-Su J, Neale BM, Franke B, Anney RJ, Zhou K, Maller JB,
            Vasquez AA, Chen W, Asherson P, Buitelaar J, Banaschewski T,
            Ebstein R, Gill M, Miranda A, Mulas F, Oades RD, Roeyers H,
            Rothenberger A, Sergeant J, Sonuga-Barke E, Steinhausen HC, Taylor
            E, Daly M, Laird N, Lange C and Faraone SV.
  TITLE     Genome-wide association scan of quantitative traits for attention
            deficit hyperactivity disorder identifies novel associations and
            confirms candidate gene associations
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 147B (8), 1345-1354 (2008)
   PUBMED   18821565
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA193549.1, AL833618.1 and AC020915.6.
            
            Transcript Variant: This variant (17) uses an alternate splice site
            in the penultimate exon, compared to variant 1. It encodes isoform
            11 which is shorter and has a distinct C-terminus, compared to
            isoform 1. Variants 17-20, 36, and 37 all encode the same isoform
            (11).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL833618.1, SRR11853558.13370.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..75
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     Protein         1..75
                     /product="zinc finger protein 544 isoform 11"
                     /calculated_mol_wt=8329
     Region          14..>53
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     CDS             1..75
                     /gene="ZNF544"
                     /coded_by="NM_001320788.2:265..492"
                     /note="isoform 11 is encoded by transcript variant 17"
                     /db_xref="CCDS:CCDS82412.1"
                     /db_xref="GeneID:27300"
                     /db_xref="HGNC:HGNC:16759"
ORIGIN      
        1 mearsmlvpp qasvcfedva maftqeeweq ldlaqrtlyr evtletwehi vslagarrgp
       61 vqgraggppr lesyp
//
LOCUS       NP_001337224             140 aa            linear   PRI 29-DEC-2022
DEFINITION  guided entry of tail-anchored proteins factor 1 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001337224
VERSION     NP_001337224.1
DBSOURCE    REFSEQ: accession NM_001350295.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 140)
  AUTHORS   McDowell MA, Heimes M, Fiorentino F, Mehmood S, Farkas A,
            Coy-Vergara J, Wu D, Bolla JR, Schmid V, Heinze R, Wild K, Flemming
            D, Pfeffer S, Schwappach B, Robinson CV and Sinning I.
  TITLE     Structural Basis of Tail-Anchored Membrane Protein Biogenesis by
            the GET Insertase Complex
  JOURNAL   Mol Cell 80 (1), 72-86 (2020)
   PUBMED   32910895
REFERENCE   2  (residues 1 to 140)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 140)
  AUTHORS   Inglis AJ, Page KR, Guna A and Voorhees RM.
  TITLE     Differential Modes of Orphan Subunit Recognition for the WRB/CAML
            Complex
  JOURNAL   Cell Rep 30 (11), 3691-3698 (2020)
   PUBMED   32187542
REFERENCE   4  (residues 1 to 140)
  AUTHORS   Carvalho HJF, Del Bondio A, Maltecca F, Colombo SF and Borgese N.
  TITLE     The WRB Subunit of the Get3 Receptor is Required for the Correct
            Integration of its Partner CAML into the ER
  JOURNAL   Sci Rep 9 (1), 11887 (2019)
   PUBMED   31417168
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 140)
  AUTHORS   Shaaban S, MacKinnon S, Andrews C, Staffieri SE, Maconachie GDE,
            Chan WM, Whitman MC, Morton SU, Yazar S, MacGregor S, Elder JE,
            Traboulsi EI, Gottlob I, Hewitt AW, Hunter DG, Mackey DA and Engle
            EC.
  CONSRTM   Strabismus Genetics Research Consortium
  TITLE     Genome-Wide Association Study Identifies a Susceptibility Locus for
            Comitant Esotropia and Suggests a Parent-of-Origin Effect
  JOURNAL   Invest Ophthalmol Vis Sci 59 (10), 4054-4064 (2018)
   PUBMED   30098192
  REMARK    GeneRIF: A significant association with nonaccommodative esotropia
            was discovered (odds ratio [OR] = 1.41, P = 2.84 x 10-09) and
            replicated (OR = 1.23, P = 0.01) at rs2244352 [T] located within
            intron 1 of the WRB (tryptophan rich basic protein) gene on
            chromosome 21
REFERENCE   6  (residues 1 to 140)
  AUTHORS   Alves da Silva AF, Machado FB, Pavarino EC, Biselli-Perico JM,
            Zampieri BL, da Silva Francisco Junior R, Mozer Rodrigues PT, Terra
            Machado D, Santos-Reboucas CB, Gomes Fernandes M, Chuva de Sousa
            Lopes SM, Lopes Rios AF and Medina-Acosta E.
  TITLE     Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and
            -Independent Manners
  JOURNAL   PLoS One 11 (4), e0154108 (2016)
   PUBMED   27100087
  REMARK    GeneRIF: WRB gene contains a maternally imprinted differentially
            methylated region (DMR).  The maternally inherited 5mCpG imprints
            at the WRB DMR are uncoupled from the parental allele expression of
            WRB and ten neighboring genes in twelve biosamples (brain, blood,
            fallopian tube, fetal large and small intestine, hESCs, large
            airway epithelial cells, thyroid, muscle, epidermal keratinocytes,
            ovary, skin, and testis).
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 140)
  AUTHORS   Yamamoto Y and Sakisaka T.
  TITLE     Molecular machinery for insertion of tail-anchored membrane
            proteins into the endoplasmic reticulum membrane in mammalian cells
  JOURNAL   Mol Cell 48 (3), 387-397 (2012)
   PUBMED   23041287
  REMARK    GeneRIF: Results indicate calcium-modulating cyclophilin ligand
            (CAML) and WRB as components of the TRC40 receptor complex and a
            crucial mechanism for driving ER membrane insertion of TA proteins
            in mammalian cells.
REFERENCE   8  (residues 1 to 140)
  AUTHORS   Vilardi F, Lorenz H and Dobberstein B.
  TITLE     WRB is the receptor for TRC40/Asna1-mediated insertion of
            tail-anchored proteins into the ER membrane
  JOURNAL   J Cell Sci 124 (Pt 8), 1301-1307 (2011)
   PUBMED   21444755
  REMARK    GeneRIF: The coiled-coil domain of WRB is the binding site for
            TRC40/Asna1.
REFERENCE   9  (residues 1 to 140)
  AUTHORS   Surapureddi S, Yu S, Bu H, Hashimoto T, Yeldandi AV, Kashireddy P,
            Cherkaoui-Malki M, Qi C, Zhu YJ, Rao MS and Reddy JK.
  TITLE     Identification of a transcriptionally active peroxisome
            proliferator-activated receptor alpha -interacting cofactor complex
            in rat liver and characterization of PRIC285 as a coactivator
  JOURNAL   Proc Natl Acad Sci U S A 99 (18), 11836-11841 (2002)
   PUBMED   12189208
REFERENCE   10 (residues 1 to 140)
  AUTHORS   Egeo A, Mazzocco M, Sotgia F, Arrigo P, Oliva R, Bergonon S,
            Nizetic D, Rasore-Quartino A and Scartezzini P.
  TITLE     Identification and characterization of a new human cDNA from
            chromosome 21q22.3 encoding a basic nuclear protein
  JOURNAL   Hum Genet 102 (3), 289-293 (1998)
   PUBMED   9544840
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF064861.5.
            
            Summary: This gene is located in the candidate region for
            congenital heart disease (CHD) in Down syndrome (DS). It encodes a
            basic protein that functions as a receptor that promotes insertion
            of tail-anchored proteins in the endoplasmic reticulum membrane.
            This gene is located at a maternally-methylated differentially
            methylated region (DMR); however, its transcription may be
            biallelic, not imprinted. Alternative splicing results in different
            transcript variants. A pseudogene has been defined on chromosome 4.
            [provided by RefSeq, Apr 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.229622.1,
                                           SRR14038196.1489485.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..140
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.2"
     Protein         1..140
                     /product="guided entry of tail-anchored proteins factor 1
                     isoform 2"
                     /note="congenital heart disease 5 protein; tail-anchored
                     protein insertion receptor WRB; tryptophan rich basic
                     protein"
                     /calculated_mol_wt=15880
     Region          <7..129
                     /region_name="CHD5"
                     /note="CHD5-like protein; pfam04420"
                     /db_xref="CDD:427938"
     CDS             1..140
                     /gene="GET1"
                     /gene_synonym="CHD5; WRB"
                     /coded_by="NM_001350295.2:322..744"
                     /note="isoform 2 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS54485.1"
                     /db_xref="GeneID:7485"
                     /db_xref="HGNC:HGNC:12790"
                     /db_xref="MIM:602915"
ORIGIN      
        1 msrvlqkdae qesqmraeiq dmkqelstvn mmdefaryar lerkinkmtd klkthvkart
       61 aqlakikwvi svafyvlqaa lmisliwkyy svpvavvpsk witpldrlva fptrvaggvg
      121 itcwilvcnk vvaivlhpfs
//
LOCUS       NP_001341662             248 aa            linear   PRI 29-DEC-2022
DEFINITION  PRKC apoptosis WT1 regulator protein isoform 2 [Homo sapiens].
ACCESSION   NP_001341662 XP_006719499
VERSION     NP_001341662.1
DBSOURCE    REFSEQ: accession NM_001354733.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 248)
  AUTHORS   Zhang Y, Li Z, Wang J, Chen H, He R and Wu H.
  TITLE     CircTRRAP Knockdown Has Cardioprotective Function in Cardiomyocytes
            via the Signal Regulation of miR-370-3p/PAWR Axis
  JOURNAL   Cardiovasc Ther 2022, 7125602 (2022)
   PUBMED   35251305
  REMARK    GeneRIF: CircTRRAP Knockdown Has Cardioprotective Function in
            Cardiomyocytes via the Signal Regulation of miR-370-3p/PAWR Axis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 248)
  AUTHORS   Heo Y, Jeon H and Namkung W.
  TITLE     PAR4-Mediated PI3K/Akt and RhoA/ROCK Signaling Pathways Are
            Essential for Thrombin-Induced Morphological Changes in MEG-01
            Cells
  JOURNAL   Int J Mol Sci 23 (2), 776 (2022)
   PUBMED   35054966
  REMARK    GeneRIF: PAR4-Mediated PI3K/Akt and RhoA/ROCK Signaling Pathways
            Are Essential for Thrombin-Induced Morphological Changes in MEG-01
            Cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 248)
  AUTHORS   Chandrabalan A and Ramachandran R.
  TITLE     Molecular mechanisms regulating Proteinase-Activated Receptors
            (PARs)
  JOURNAL   FEBS J 288 (8), 2697-2726 (2021)
   PUBMED   33742547
  REMARK    GeneRIF: Molecular mechanisms regulating Proteinase-Activated
            Receptors (PARs).
            Review article
REFERENCE   4  (residues 1 to 248)
  AUTHORS   Qinan W, Ling Z and Bing C.
  TITLE     PAR-4: a possible new target for age-related disease
  JOURNAL   Expert Opin Ther Targets 18 (8), 917-927 (2014)
   PUBMED   24890982
  REMARK    Review article
REFERENCE   5  (residues 1 to 248)
  AUTHORS   Hebbar N, Shrestha-Bhattarai T and Rangnekar VM.
  TITLE     Cancer-selective apoptosis by tumor suppressor par-4
  JOURNAL   Adv Exp Med Biol 818, 155-166 (2014)
   PUBMED   25001535
  REMARK    GeneRIF: The cancer cell specific activity of Par-4 is elicited
            through intracellular as well as extracellular mechanisms.
            Review article
REFERENCE   6  (residues 1 to 248)
  AUTHORS   Irby RB and Kline CL.
  TITLE     Par-4 as a potential target for cancer therapy
  JOURNAL   Expert Opin Ther Targets 17 (1), 77-87 (2013)
   PUBMED   23062118
  REMARK    Review article
REFERENCE   7  (residues 1 to 248)
  AUTHORS   Kruman II, Nath A, Maragos WF, Chan SL, Jones M, Rangnekar VM,
            Jakel RJ and Mattson MP.
  TITLE     Evidence that Par-4 participates in the pathogenesis of HIV
            encephalitis
  JOURNAL   Am J Pathol 155 (1), 39-46 (1999)
   PUBMED   10393834
REFERENCE   8  (residues 1 to 248)
  AUTHORS   Johnstone RW, Tommerup N, Hansen C, Vissing H and Shi Y.
  TITLE     Mapping of the human PAWR (par-4) gene to chromosome 12q21
  JOURNAL   Genomics 53 (2), 241-243 (1998)
   PUBMED   9790775
REFERENCE   9  (residues 1 to 248)
  AUTHORS   Guo Q, Fu W, Xie J, Luo H, Sells SF, Geddes JW, Bondada V,
            Rangnekar VM and Mattson MP.
  TITLE     Par-4 is a mediator of neuronal degeneration associated with the
            pathogenesis of Alzheimer disease
  JOURNAL   Nat Med 4 (8), 957-962 (1998)
   PUBMED   9701251
  REMARK    GeneRIF: Par-4 expression is increased in vulnerable neurons in
            Alzheimer's disease, and contributes to apoptotic neuronal cell
            death in the disease.
REFERENCE   10 (residues 1 to 248)
  AUTHORS   Johnstone RW, See RH, Sells SF, Wang J, Muthukkumar S, Englert C,
            Haber DA, Licht JD, Sugrue SP, Roberts T, Rangnekar VM and Shi Y.
  TITLE     A novel repressor, par-4, modulates transcription and growth
            suppression functions of the Wilms' tumor suppressor WT1
  JOURNAL   Mol Cell Biol 16 (12), 6945-6956 (1996)
   PUBMED   8943350
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073569.26 and AC073595.31.
            On Aug 24, 2017 this sequence version replaced XP_006719499.1.
            
            Summary: This gene encodes a tumor suppressor protein that
            selectively induces apoptosis in cancer cells through intracellular
            and extracellular mechanisms. The intracellular mechanism involves
            the inhibition of pro-survival pathways and the activation of
            Fas-mediated apoptosis, while the extracellular mechanism involves
            the binding of a secreted form of this protein to glucose regulated
            protein 78 (GRP78) on the cell surface, which leads to activation
            of the extrinsic apoptotic pathway. This gene is located on the
            unstable human chromosomal 12q21 region and is often deleted or
            mutated different tumors. The encoded protein also plays an
            important role in the progression of age-related diseases.
            [provided by RefSeq, Aug 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3958890.1,
                                           SRR14038194.3016535.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465410, SAMN03465421
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..248
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.2"
     Protein         1..248
                     /product="PRKC apoptosis WT1 regulator protein isoform 2"
                     /note="transcriptional repressor PAR4; WT1-interacting
                     protein; prostate apoptosis response protein 4; prostate
                     apoptosis response protein PAR-4; prostate apoptosis
                     response-4; PRKC, apoptosis, WT1, regulator"
                     /calculated_mol_wt=25527
     Region          68..72
                     /region_name="B30.2/SPRY domain-binding motif.
                     /evidence=ECO:0000269|PubMed:20561531"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96IZ0.1)"
     Site            108
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96IZ0.1)"
     Region          145..203
                     /region_name="Selective for apoptosis induction in cancer
                     cells (SAC)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96IZ0.1)"
     Region          145..161
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96IZ0.1)"
     Site            163
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PKA.
                     /evidence=ECO:0000250|UniProtKB:Q62627; propagated from
                     UniProtKB/Swiss-Prot (Q96IZ0.1)"
     CDS             1..248
                     /gene="PAWR"
                     /gene_synonym="Par-4; PAR4"
                     /coded_by="NM_001354733.2:241..987"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="GeneID:5074"
                     /db_xref="HGNC:HGNC:8614"
                     /db_xref="MIM:601936"
ORIGIN      
        1 matggyrtss glggsttdfl eewkakrekm rakqnppgpa ppgggssdaa gkppagalgt
       61 paaaaaneln nnlpggapaa pavpgpggvn cavgsamltr aapgprrsed eppaasasaa
      121 pppqrdeeep dgvpekgkss gpsarkgkgq iekrklrekr rstgvvnipa aecldeyedd
      181 eagqkerkre daitqqntiq neavnlldpg ssyllqeppr tvsgrykrkr dkpyteqgav
      241 trsgsvgg
//
LOCUS       NP_001258762             468 aa            linear   PRI 30-DEC-2022
DEFINITION  DENN domain-containing protein 2D isoform b [Homo sapiens].
ACCESSION   NP_001258762
VERSION     NP_001258762.1
DBSOURCE    REFSEQ: accession NM_001271833.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 468)
  AUTHORS   Ioannou MS, Kulasekaran G, Fotouhi M, Morein JJ, Han C, Tse S,
            Nossova N, Han T, Mannard E and McPherson PS.
  TITLE     Intersectin-s interaction with DENND2B facilitates recycling of
            epidermal growth factor receptor
  JOURNAL   EMBO Rep 18 (12), 2119-2130 (2017)
   PUBMED   29030480
REFERENCE   2  (residues 1 to 468)
  AUTHORS   Sakha S, Muramatsu T, Ueda K and Inazawa J.
  TITLE     Exosomal microRNA miR-1246 induces cell motility and invasion
            through the regulation of DENND2D in oral squamous cell carcinoma
  JOURNAL   Sci Rep 6, 38750 (2016)
   PUBMED   27929118
  REMARK    GeneRIF: resulted in increased cell motility and invasive ability.
            Moreover, miR-1246 increased cell motility by directly targeting
            DENN/MADD Domain Containing 2D (DENND2D)
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 468)
  AUTHORS   Kanda M, Shimizu D, Nomoto S, Takami H, Hibino S, Oya H, Hashimoto
            R, Suenaga M, Inokawa Y, Kobayashi D, Tanaka C, Yamada S, Fujii T,
            Nakayama G, Sugimoto H, Koike M, Fujiwara M and Kodera Y.
  TITLE     Prognostic impact of expression and methylation status of DENN/MADD
            domain-containing protein 2D in gastric cancer
  JOURNAL   Gastric Cancer 18 (2), 288-296 (2015)
   PUBMED   24695972
  REMARK    GeneRIF: Higher frequency of promoter hypermethylation of DENND2D
            is associated with gastric cancer.
REFERENCE   4  (residues 1 to 468)
  AUTHORS   Hibino S, Kanda M, Oya H, Takami H, Shimizu D, Nomoto S, Hishida M,
            Niwa Y, Koike M, Yamada S, Nishikawa Y, Asai M, Nakayama G, Fujii
            T, Sugimoto H, Fujiwara M and Kodera Y.
  TITLE     Reduced expression of DENND2D through promoter hypermethylation is
            an adverse prognostic factor in squamous cell carcinoma of the
            esophagus
  JOURNAL   Oncol Rep 31 (2), 693-700 (2014)
   PUBMED   24317529
  REMARK    GeneRIF: DENND2D is a candidate tumor suppressor gene that was
            inactivated by promoter hypermethylation in patients with
            esophageal squamous cell carcinoma and may serve as a novel
            biomarker of esophageal squamous cell carcinoma.
REFERENCE   5  (residues 1 to 468)
  AUTHORS   Kanda M, Nomoto S, Oya H, Takami H, Hibino S, Hishida M, Suenaga M,
            Yamada S, Inokawa Y, Nishikawa Y, Asai M, Fujii T, Sugimoto H and
            Kodera Y.
  TITLE     Downregulation of DENND2D by promoter hypermethylation is
            associated with early recurrence of hepatocellular carcinoma
  JOURNAL   Int J Oncol 44 (1), 44-52 (2014)
   PUBMED   24189587
  REMARK    GeneRIF: DENND2D is a candidate tumor suppressor gene that is
            inactivated by promoter hypermethylation in patients with
            Hepatocellular carcinoma and may serve as a novel biomarker of
            early recurrence of Hepatocellular carcinoma .
REFERENCE   6  (residues 1 to 468)
  AUTHORS   Ling B, Zheng H, Fu G, Yuan J, Shi T, Chen S, Liu Y, Liu Y, Cao Y,
            Zheng S, Guo S, Han N, Gao Y, Cheng S and Zhang K.
  TITLE     Suppression of non-small cell lung cancer proliferation and
            tumorigenicity by DENND2D
  JOURNAL   Lung Cancer 79 (2), 104-110 (2013)
   PUBMED   23182661
  REMARK    GeneRIF: Our data show that DENND2D might function as a tumor
            suppressor-like gene, preventing survival and expansion of cells
            with genetic damage through apoptosis mechanism. Absence of DENND2D
            might play a permissive role, as an early event, in tumorigenesis.
REFERENCE   7  (residues 1 to 468)
  AUTHORS   Yoshimura S, Gerondopoulos A, Linford A, Rigden DJ and Barr FA.
  TITLE     Family-wide characterization of the DENN domain Rab GDP-GTP
            exchange factors
  JOURNAL   J Cell Biol 191 (2), 367-381 (2010)
   PUBMED   20937701
REFERENCE   8  (residues 1 to 468)
  AUTHORS   Bloethner S, Mould A, Stark M and Hayward NK.
  TITLE     Identification of ARHGEF17, DENND2D, FGFR3, and RB1 mutations in
            melanoma by inhibition of nonsense-mediated mRNA decay
  JOURNAL   Genes Chromosomes Cancer 47 (12), 1076-1085 (2008)
   PUBMED   18677770
  REMARK    GeneRIF: Mutations in DENND2D in melanoma by inhibition of
            nonsense-mediated mRNA decay.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355816.14, BP270686.1 and AK026110.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at an
            alternate start codon, compared to variant 1. The encoded isoform
            (b) is shorter and has a distinct N-terminus, compared to isoform
            a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK026110.1, SRR1803615.146228.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..468
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3-p13.2"
     Protein         1..468
                     /product="DENN domain-containing protein 2D isoform b"
                     /note="DENN domain-containing protein 2D; RP5-1180E21.2;
                     DENN/MADD domain containing 2D"
                     /calculated_mol_wt=53017
     Region          47..139
                     /region_name="uDENN"
                     /note="Domain always found upstream of DENN domain, found
                     in a variety of signalling proteins; smart00800"
                     /db_xref="CDD:214824"
     Region          146..330
                     /region_name="DENN"
                     /note="DENN (AEX-3) domain; pfam02141"
                     /db_xref="CDD:426618"
     Region          369..434
                     /region_name="dDENN"
                     /note="Domain always found downstream of DENN domain,
                     found in a variety of signalling proteins; smart00801"
                     /db_xref="CDD:129037"
     CDS             1..468
                     /gene="DENND2D"
                     /coded_by="NM_001271833.2:226..1632"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS60219.1"
                     /db_xref="GeneID:79961"
                     /db_xref="HGNC:HGNC:26192"
                     /db_xref="MIM:615111"
ORIGIN      
        1 mdglgrrlra slrlkrghgg ppqdnsgeal keperaqehs lpnfaggqhf feyllvvslk
       61 kkrseddyep iityqfpkre nllrgqqeee erllkaiplf cfpdgnewas lteypretfs
      121 fvltnvdgsr kigycrrllp agpgprlpkv yciiscigcf glfskildev ekrhqismav
      181 iypfmqglre aafpapgktv tlksfipdsg tefisltrpl dshlehvdfs sllhclsfeq
      241 ilqifasavl erkiiflaeg lstlsqciha aaallypfsw ahtyipvvpe sllatvccpt
      301 pfmvgvqmrf qqevmdspme evllvnlceg tflmsvgdek dilppklqdd ildslgqgin
      361 elktaeqine hvsgpfvqff vkivghyasy ikreangqgh fqersfckal tsktnrrfvk
      421 kfvktqlfsl fiqeaekskn ppagyfqqki leyeeqkkqk kprektvk
//
LOCUS       NP_115674                590 aa            linear   PRI 30-DEC-2022
DEFINITION  synaptotagmin-3 [Homo sapiens].
ACCESSION   NP_115674
VERSION     NP_115674.1
DBSOURCE    REFSEQ: accession NM_032298.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 590)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 590)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 590)
  AUTHORS   Saheki Y, Bian X, Schauder CM, Sawaki Y, Surma MA, Klose C, Pincet
            F, Reinisch KM and De Camilli P.
  TITLE     Control of plasma membrane lipid homeostasis by the extended
            synaptotagmins
  JOURNAL   Nat Cell Biol 18 (5), 504-515 (2016)
   PUBMED   27065097
  REMARK    GeneRIF: the extended synaptotagmins (E-Syts), endoplasmic
            reticulum (ER) proteins that function as PtdIns(4,5)P2- and
            Ca(2+)-regulated tethers to the Pplasma membrane.
REFERENCE   4  (residues 1 to 590)
  AUTHORS   Yoo JC, Lim Ty, Park JS, Hah YS, Park N, Hong SG, Park JY and Yoon
            TJ.
  TITLE     SYT14L, especially its C2 domain, is involved in regulating
            melanocyte differentiation
  JOURNAL   J Dermatol Sci 72 (3), 246-251 (2013)
   PUBMED   23999003
REFERENCE   5  (residues 1 to 590)
  AUTHORS   Shin OH, Rhee JS, Tang J, Sugita S, Rosenmund C and Sudhof TC.
  TITLE     Sr2+ binding to the Ca2+ binding site of the synaptotagmin 1 C2B
            domain triggers fast exocytosis without stimulating SNARE
            interactions
  JOURNAL   Neuron 37 (1), 99-108 (2003)
   PUBMED   12526776
REFERENCE   6  (residues 1 to 590)
  AUTHORS   Mizutani A, Fukuda M, Ibata K, Shiraishi Y and Mikoshiba K.
  TITLE     SYNCRIP, a cytoplasmic counterpart of heterogeneous nuclear
            ribonucleoprotein R, interacts with ubiquitous synaptotagmin
            isoforms
  JOURNAL   J Biol Chem 275 (13), 9823-9831 (2000)
   PUBMED   10734137
REFERENCE   7  (residues 1 to 590)
  AUTHORS   Gerona RR, Larsen EC, Kowalchyk JA and Martin TF.
  TITLE     The C terminus of SNAP25 is essential for Ca(2+)-dependent binding
            of synaptotagmin to SNARE complexes
  JOURNAL   J Biol Chem 275 (9), 6328-6336 (2000)
   PUBMED   10692432
REFERENCE   8  (residues 1 to 590)
  AUTHORS   Fukuda M, Kanno E and Mikoshiba K.
  TITLE     Conserved N-terminal cysteine motif is essential for homo- and
            heterodimer formation of synaptotagmins III, V, VI, and X
  JOURNAL   J Biol Chem 274 (44), 31421-31427 (1999)
   PUBMED   10531343
REFERENCE   9  (residues 1 to 590)
  AUTHORS   Li C, Ullrich B, Zhang JZ, Anderson RG, Brose N and Sudhof TC.
  TITLE     Ca(2+)-dependent and -independent activities of neural and
            non-neural synaptotagmins
  JOURNAL   Nature 375 (6532), 594-599 (1995)
   PUBMED   7791877
REFERENCE   10 (residues 1 to 590)
  AUTHORS   Jones JM, Popma SJ, Mizuta M, Seino S and Meisler MH.
  TITLE     Synaptotagmin genes on mouse chromosomes 1, 7, and 10 and human
            chromosome 19
  JOURNAL   Mamm Genome 6 (3), 212-213 (1995)
   PUBMED   7749232
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008743.9.
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2 and 3 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL136594.1, SRR1803617.167312.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..590
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..590
                     /product="synaptotagmin-3"
                     /note="synaptotagmin III"
                     /calculated_mol_wt=63173
     Region          10..34
                     /region_name="Cysteine motif.
                     /evidence=ECO:0000250|UniProtKB:O35681"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQG1.1)"
     Site            55..75
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQG1.1)"
     Region          143..220
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQG1.1)"
     Region          234..260
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQG1.1)"
     Region          273..295
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQG1.1)"
     Site            284
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:O35681; propagated from
                     UniProtKB/Swiss-Prot (Q9BQG1.1)"
     Region          299..424
                     /region_name="C2A_Synaptotagmin-1-5-6-9-10"
                     /note="C2A domain first repeat present in Synaptotagmins
                     1, 5, 6, 9, and 10; cd08385"
                     /db_xref="CDD:176031"
     Site            order(330,336,388,390,396)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176031"
     Region          433..567
                     /region_name="C2B_Synaptotagmin-3-5-6-9-10"
                     /note="C2 domain second repeat present in Synaptotagmins
                     3, 5, 6, 9, and 10; cd08403"
                     /db_xref="CDD:176048"
     Site            order(462,468,492,522,524,530)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176048"
     CDS             1..590
                     /gene="SYT3"
                     /gene_synonym="SytIII"
                     /coded_by="NM_032298.3:535..2307"
                     /db_xref="CCDS:CCDS12798.1"
                     /db_xref="GeneID:84258"
                     /db_xref="HGNC:HGNC:11511"
                     /db_xref="MIM:600327"
ORIGIN      
        1 msgdyeddlc rralilvsdl carvrdadtn drcqefndri rgyprgpdad isvsllsviv
       61 tfcgivllgv slfvswklcw vpwrdkggsa vgggplrkdl gpgvglaglv gggghhlaag
      121 lgghpllggp hhhahaahhp pfaellepgs lggsdtpeps yldmdsypea aaaavaagvk
      181 psqtspelps eggagsglll lppsggglps aqshqqvtsl apttrypalp rpltqqtlts
      241 qpdpsseerp palplplpgg eekakligqi kpelyqgtgp ggrrsgggpg sgeagtgapc
      301 grisfalryl ygsdqlvvri lqaldlpakd sngfsdpyvk iyllpdrkkk fqtkvhrktl
      361 npvfnetfqf svplaelaqr klhfsvydfd rfsrhdligq vvldnllela eqppdrplwr
      421 diveggseka dlgelnfslc ylptagrltv tiikasnlka mdltgfsdpy vkaslisegr
      481 rlkkrktsik kntlnptyne alvfdvapes venvglsiav vdydcighne vigvcrvgpd
      541 aadphgrehw aemlanprkp vehwhqlvee ktvtsftkgs kglsekense
//
LOCUS       NP_002168                195 aa            linear   PRI 31-DEC-2022
DEFINITION  interferon omega-1 precursor [Homo sapiens].
ACCESSION   NP_002168
VERSION     NP_002168.1
DBSOURCE    REFSEQ: accession NM_002177.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 195)
  AUTHORS   Mesev EV, LeDesma RA and Ploss A.
  TITLE     Decoding type I and III interferon signalling during viral
            infection
  JOURNAL   Nat Microbiol 4 (6), 914-924 (2019)
   PUBMED   30936491
  REMARK    Review article
REFERENCE   2  (residues 1 to 195)
  AUTHORS   Li SF, Zhao FR, Shao JJ, Xie YL, Chang HY and Zhang YG.
  TITLE     Interferon-omega: Current status in clinical applications
  JOURNAL   Int Immunopharmacol 52, 253-260 (2017)
   PUBMED   28957693
  REMARK    GeneRIF: a review on current status in clinical applications of
            interferon-omega
            Review article
REFERENCE   3  (residues 1 to 195)
  AUTHORS   Thomas C, Moraga I, Levin D, Krutzik PO, Podoplelova Y, Trejo A,
            Lee C, Yarden G, Vleck SE, Glenn JS, Nolan GP, Piehler J, Schreiber
            G and Garcia KC.
  TITLE     Structural linkage between ligand discrimination and receptor
            activation by type I interferons
  JOURNAL   Cell 146 (4), 621-632 (2011)
   PUBMED   21854986
  REMARK    GeneRIF: The crystal structures of two human type I IFN ternary
            signaling complexes containing IFNalpha2 and IFNomega reveal
            recognition modes and heterotrimeric architectures that are unique
            among the cytokine receptor superfamily but conserved between type
            I IFNs.
REFERENCE   4  (residues 1 to 195)
  AUTHORS   Baechler EC, Bilgic H and Reed AM.
  TITLE     Type I interferon pathway in adult and juvenile dermatomyositis
  JOURNAL   Arthritis Res Ther 13 (6), 249 (2011)
   PUBMED   22192711
  REMARK    GeneRIF: Studies indicate that upregulation of the type I
            interferon protein signature has added additional markers of
            disease activity and insight into the pathogenesis of the disease.
            Review article
REFERENCE   5  (residues 1 to 195)
  AUTHORS   Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M and
            Tokunaga K.
  TITLE     An approach based on a genome-wide association study reveals
            candidate loci for narcolepsy
  JOURNAL   Hum Genet 128 (4), 433-441 (2010)
   PUBMED   20677014
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 195)
  AUTHORS   Olopade OI, Bohlander SK, Pomykala H, Maltepe E, Van Melle E, Le
            Beau MM and Diaz MO.
  TITLE     Mapping of the shortest region of overlap of deletions of the short
            arm of chromosome 9 associated with human neoplasia
  JOURNAL   Genomics 14 (2), 437-443 (1992)
   PUBMED   1385305
REFERENCE   7  (residues 1 to 195)
  AUTHORS   Flores I, Mariano TM and Pestka S.
  TITLE     Human interferon omega (omega) binds to the alpha/beta receptor
  JOURNAL   J Biol Chem 266 (30), 19875-19877 (1991)
   PUBMED   1834641
REFERENCE   8  (residues 1 to 195)
  AUTHORS   Adolf GR, Fruhbeis B, Hauptmann R, Kalsner I, Maurer-Fogy I,
            Ostermann E, Patzelt E, Schwendenwein R, Sommergruber W and Zophel
            A.
  TITLE     Human interferon omega 1: isolation of the gene, expression in
            Chinese hamster ovary cells and characterization of the recombinant
            protein
  JOURNAL   Biochim Biophys Acta 1089 (2), 167-174 (1991)
   PUBMED   1647209
REFERENCE   9  (residues 1 to 195)
  AUTHORS   Adolf GR, Maurer-Fogy I, Kalsner I and Cantell K.
  TITLE     Purification and characterization of natural human interferon omega
            1. Two alternative cleavage sites for the signal peptidase
  JOURNAL   J Biol Chem 265 (16), 9290-9295 (1990)
   PUBMED   1693148
REFERENCE   10 (residues 1 to 195)
  AUTHORS   Capon,D.J., Shepard,H.M. and Goeddel,D.V.
  TITLE     Two distinct families of human and bovine interferon-alpha genes
            are coordinately expressed and encode functional polypeptides
  JOURNAL   Mol Cell Biol 5 (4), 768-779 (1985)
   PUBMED   2985969
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AI860608.1 and X02669.1.
            
            Summary: The protein encoded by this gene is an interferon and
            possesses antiviral activity. The encoded protein binds to the
            interferon alpha/beta receptor but not to the interferon gamma
            receptor. This intronless gene has several pseudogenes spread
            throughout the genome. [provided by RefSeq, Nov 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC117290.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380229.4/ ENSP00000369578.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..195
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.3"
     Protein         1..195
                     /product="interferon omega-1 precursor"
                     /note="IFN-omega 1, interferon omega-1; interferon
                     alpha-II-1"
                     /calculated_mol_wt=20156
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2182
     mat_peptide     22..195
                     /product="Interferon omega-1. /id=PRO_0000016408"
                     /note="propagated from UniProtKB/Swiss-Prot (P05000.2)"
                     /calculated_mol_wt=20156
     Region          26..185
                     /region_name="Interferon"
                     /note="Interferon alpha/beta domain; pfam00143"
                     /db_xref="CDD:425484"
     Site            order(28..29,32,35..36,39,42..43,100..101,103..104,
                     106..107,110,113..114,117..118,121)
                     /site_type="active"
                     /note="putative IFNAR-1 binding site [active]"
                     /db_xref="CDD:238047"
     Site            order(53..60,62..64,70..71,141..142,144..145,148..149,
                     151..152,155..160)
                     /site_type="active"
                     /note="putative IFNAR-2 binding site [active]"
                     /db_xref="CDD:238047"
     Site            101
                     /site_type="other"
                     /note="N-glycosylation site [posttranslational
                     modification]"
                     /db_xref="CDD:238047"
     Site            101
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:1693148. /id=CAR_000050;
                     propagated from UniProtKB/Swiss-Prot (P05000.2)"
     CDS             1..195
                     /gene="IFNW1"
                     /coded_by="NM_002177.3:263..850"
                     /db_xref="CCDS:CCDS6496.1"
                     /db_xref="GeneID:3467"
                     /db_xref="HGNC:HGNC:5448"
                     /db_xref="MIM:147553"
ORIGIN      
        1 mallfpllaa lvmtsyspvg slgcdlpqnh gllsrntlvl lhqmrrispf lclkdrrdfr
       61 fpqemvkgsq lqkahvmsvl hemlqqifsl fhterssaaw nmtlldqlht glhqqlqhle
      121 tcllqvvgeg esagaisspa ltlrryfqgi rvylkekkys dcawevvrme imkslflstn
      181 mqerlrskdr dlgss
//
LOCUS       NP_001243630             253 aa            linear   PRI 31-DEC-2022
DEFINITION  protein STPG3 isoform d [Homo sapiens].
ACCESSION   NP_001243630
VERSION     NP_001243630.1
DBSOURCE    REFSEQ: accession NM_001256701.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 253)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (residues 1 to 253)
  AUTHORS   Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R,
            Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine
            M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J,
            Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K,
            Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T,
            Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi
            T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato
            K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H,
            Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S,
            Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta
            T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO,
            Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N,
            Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y,
            Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H,
            Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A,
            Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T,
            Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai
            A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H,
            Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M,
            Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y,
            Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K,
            Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M,
            Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano
            J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T,
            Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T,
            Nakamura Y, Ohara O, Isogai T and Sugano S.
  TITLE     Complete sequencing and characterization of 21,243 full-length
            human cDNAs
  JOURNAL   Nat Genet 36 (1), 40-45 (2004)
   PUBMED   14702039
REFERENCE   3  (residues 1 to 253)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL,
            Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P,
            Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy
            SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH,
            Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW,
            Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J,
            Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M,
            Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW,
            Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J,
            Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U,
            Smailus DE, Schnerch A, Schein JE, Jones SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX255925.17.
            
            Transcript Variant: This variant (4) uses two alternate splice
            sites in the coding region, one of which results in a frameshift,
            compared to variant 1. It encodes isoform d, which is shorter and
            has a distinct C-terminus, compared to isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC144311.1, SRR5189667.257983.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..253
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     Protein         1..253
                     /product="protein STPG3 isoform d"
                     /note="sperm-tail PG-rich repeat-containing protein 3;
                     protein STPG3"
                     /calculated_mol_wt=28059
     CDS             1..253
                     /gene="STPG3"
                     /gene_synonym="C9orf173"
                     /coded_by="NM_001256701.2:2..763"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS75941.1"
                     /db_xref="GeneID:441476"
                     /db_xref="HGNC:HGNC:37285"
ORIGIN      
        1 mmnsdqkavk flanfyingg khwthghlrq tqpeptqpka svlllgpepg mawdetqppk
       61 mkeipvglrl qtgtpqeslp tytqtlrell leqrplitad levpsptryq vpspsvress
      121 phphysigck hqgregggrr awqtlwfqse spftqkadfd qeqkaslqap gkrcpgpnty
      181 nilpgsrlqs prspafsmsr spaftswlst srtpgpaayh vedcnsrfps apgvviqgvr
      241 rpkrhdtgpf ctl
//
LOCUS       NP_001378974             844 aa            linear   PRI 31-DEC-2022
DEFINITION  janus kinase and microtubule-interacting protein 3 isoform e [Homo
            sapiens].
ACCESSION   NP_001378974
VERSION     NP_001378974.1
DBSOURCE    REFSEQ: accession NM_001392045.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 844)
  AUTHORS   Kim DK, Cho MH, Hersh CP, Lomas DA, Miller BE, Kong X, Bakke P,
            Gulsvik A, Agusti A, Wouters E, Celli B, Coxson H, Vestbo J, MacNee
            W, Yates JC, Rennard S, Litonjua A, Qiu W, Beaty TH, Crapo JD,
            Riley JH, Tal-Singer R and Silverman EK.
  CONSRTM   ECLIPSE, ICGN, and COPDGene Investigators
  TITLE     Genome-wide association analysis of blood biomarkers in chronic
            obstructive pulmonary disease
  JOURNAL   Am J Respir Crit Care Med 186 (12), 1238-1247 (2012)
   PUBMED   23144326
REFERENCE   2  (residues 1 to 844)
  AUTHORS   Cruz-Garcia D, Vazquez-Martinez R, Peinado JR, Anouar Y, Tonon MC,
            Vaudry H, Castano JP and Malagon MM.
  TITLE     Identification and characterization of two novel (neuro)endocrine
            long coiled-coil proteins
  JOURNAL   FEBS Lett 581 (17), 3149-3156 (2007)
   PUBMED   17572408
REFERENCE   3  (residues 1 to 844)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe
            JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C,
            Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J,
            White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L,
            Morris JC, Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 844)
  AUTHORS   Steindler C, Li Z, Algarte M, Alcover A, Libri V, Ragimbeau J and
            Pellegrini S.
  TITLE     Jamip1 (marlin-1) defines a family of proteins interacting with
            janus kinases and microtubules
  JOURNAL   J Biol Chem 279 (41), 43168-43177 (2004)
   PUBMED   15277531
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL162274.17 and AL512622.9.
            
            CCDS Note: This CCDS ID represents the protein described in PMID:
            17572408. The full-length exon combination of this transcript is
            based on a combination of mouse (AK220482.1) and human (AK126964.1)
            partial transcripts. It should be noted this transcript is
            predicted to undergo nonsense-mediated mRNA decay (NMD). It is
            likely that the majority of transcripts representing this variant
            will undergo NMD, while some low level of NMD escape may allow for
            the expression of this protein.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968189
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            NMD candidate :: translation inferred from conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..844
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.3"
     Protein         1..844
                     /product="janus kinase and microtubule-interacting protein
                     3 isoform e"
                     /note="neuroendocrine long coiled-coil 2; janus kinase and
                     microtubule-interacting protein 3; neuroendocrine long
                     coiled-coil protein 2"
                     /calculated_mol_wt=98398
     Region          27..>818
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          250..290
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZ66.2)"
     Site            384
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5DTN8; propagated from
                     UniProtKB/Swiss-Prot (Q5VZ66.2)"
     Region          429..625
                     /region_name="JAKMIP_CC3"
                     /note="JAKMIP CC3 domain; pfam16034"
                     /db_xref="CDD:435088"
     Region          466..489
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZ66.2)"
     CDS             1..844
                     /gene="JAKMIP3"
                     /gene_synonym="bA140A10.5; C10orf14; C10orf39; Jamip3;
                     NECC2"
                     /coded_by="NM_001392045.1:254..2788"
                     /note="isoform e is encoded by transcript variant 13"
                     /db_xref="CCDS:CCDS44494.1"
                     /db_xref="GeneID:282973"
                     /db_xref="HGNC:HGNC:23523"
                     /db_xref="MIM:611198"
ORIGIN      
        1 mskrgmssra kgdkaealaa lqaanedlra kltdiqielq qekskvskve reknqelrqv
       61 reheqhktav lltelktklh eekmkelqav retllrqhea ellrvikikd nenqrlqall
      121 salrdggpek vktvllseak eeakkgfeve kvkmqqeise lkgakrqvee altlviqadk
      181 ikaaeirsvy hlhqeeitri kkecereirr lmeeikfkdr avfvlerelg vqaghaqrlq
      241 lqkealdeql sqvreadrhp gsprrelpha agagdasdhs gspeqqldek darrfqlkia
      301 elsaiirkle drnallseer nellkrvrea esqykplldk nkrlsrkned lshalrrmen
      361 klkfvtqeni emrqragiir rpsslndldq sqderevdfl klqiveqqnl idelsktlet
      421 agyvksvler dkllrfrkqr kkmaklpkpv vvetffgyde easlesdgss vsyqtdrtdq
      481 tpctpdddle egmakeetel rfrqltmeyq alqrayallq eqvggtldae revktreqlq
      541 aevqraqari edlekalaeq gqdmkwieek qalyrrnqel vekikqmete earlrhevqd
      601 ardqnellef rileleerer kspaisfhht pfvdgksplq vyceaegvtd ivvaelmkkl
      661 dilgdnanlt neeqvvviqa rtvltlaekw lqqieeteaa lqrkmvdles ekelfskqkg
      721 yldeeldyrk qaldqankhi leleamlyda lqqeagakva ellseeerek lkvaveqwkr
      781 qvmselrerd aqilrermel lqlaqqrike leerieaqkr qikeleekfl flflffslaf
      841 ilws
//
LOCUS       NP_001380503              90 aa            linear   PRI 31-DEC-2022
DEFINITION  protein N-lysine methyltransferase METTL21A isoform 3 [Homo
            sapiens].
ACCESSION   NP_001380503
VERSION     NP_001380503.1
DBSOURCE    REFSEQ: accession NM_001393574.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 90)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 90)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 90)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (residues 1 to 90)
  AUTHORS   Jakobsson ME, Moen A, Bousset L, Egge-Jacobsen W, Kernstock S,
            Melki R and Falnes PO.
  TITLE     Identification and characterization of a novel human
            methyltransferase modulating Hsp70 protein function through lysine
            methylation
  JOURNAL   J Biol Chem 288 (39), 27752-27763 (2013)
   PUBMED   23921388
  REMARK    GeneRIF: methyltransferase METTL21A is the enzyme responsible for
            trimethylation of a conserved lysine residue found in several human
            Hsp70 (HSPA) proteins
REFERENCE   5  (residues 1 to 90)
  AUTHORS   Cloutier P, Lavallee-Adam M, Faubert D, Blanchette M and Coulombe
            B.
  TITLE     A newly uncovered group of distantly related lysine
            methyltransferases preferentially interact with molecular
            chaperones to regulate their activity
  JOURNAL   PLoS Genet 9 (1), e1003210 (2013)
   PUBMED   23349634
  REMARK    GeneRIF: METTL21A trimethylates Lys-561 in Hsp70 and corresponding
            residues in other isoforms (Hsc70, BiP)
REFERENCE   6  (residues 1 to 90)
  AUTHORS   Kernstock S, Davydova E, Jakobsson M, Moen A, Pettersen S,
            Maelandsmo GM, Egge-Jacobsen W and Falnes PO.
  TITLE     Lysine methylation of VCP by a member of a novel human protein
            methyltransferase family
  JOURNAL   Nat Commun 3, 1038 (2012)
   PUBMED   22948820
REFERENCE   7  (residues 1 to 90)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   8  (residues 1 to 90)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N,
            Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar
            M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC079767.7 and AC009298.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1023379.1,
                                           SRR1660809.51172.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..90
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.3"
     Protein         1..90
                     /product="protein N-lysine methyltransferase METTL21A
                     isoform 3"
                     /note="family with sequence similarity 119, member A;
                     protein N-lysine methyltransferase METTL21A; heat shock
                     protein 70kDa lysine (K) methyltransferase; HSPA lysine
                     methyltransferase; hepatocellular carcinoma-associated
                     antigen 557b; methyltransferase-like protein 21A;
                     methyltransferase like 21A"
                     /calculated_mol_wt=9478
     Region          25..>90
                     /region_name="AdoMet_MTases"
                     /note="S-adenosylmethionine-dependent methyltransferases
                     (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes
                     that use S-adenosyl-L-methionine (SAM or AdoMet) as a
                     substrate for methyltransfer, creating the product
                     S-adenosyl-L-homocysteine (AdoHcy); cl17173"
                     /db_xref="CDD:450167"
     CDS             1..90
                     /gene="METTL21A"
                     /gene_synonym="FAM119A; HCA557b; HSPA-KMT"
                     /coded_by="NM_001393574.1:244..516"
                     /note="isoform 3 is encoded by transcript variant 26"
                     /db_xref="CCDS:CCDS82562.1"
                     /db_xref="GeneID:151194"
                     /db_xref="HGNC:HGNC:30476"
                     /db_xref="MIM:615257"
ORIGIN      
        1 malvpyeett efglqkfhkp latfsfanht iqirqdwrhl gvaavvwdaa ivlstylemg
       61 avelrgrsav elgagtglvg ivaallgggi
//
LOCUS       NP_000568                159 aa            linear   PRI 22-JAN-2023
DEFINITION  interleukin-1 receptor antagonist protein isoform 3 [Homo sapiens].
ACCESSION   NP_000568
VERSION     NP_000568.1
DBSOURCE    REFSEQ: accession NM_000577.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 159)
  AUTHORS   Llibre A, Smith N, Rouilly V, Musvosvi M, Nemes E, Posseme C, Mabwe
            S, Charbit B, Mbandi SK, Filander E, Africa H, Saint-Andre V,
            Bondet V, Bost P, Mulenga H, Bilek N, Albert ML, Scriba TJ and
            Duffy D.
  TITLE     Tuberculosis alters immune-metabolic pathways resulting in
            perturbed IL-1 responses
  JOURNAL   Front Immunol 13, 897193 (2022)
   PUBMED   36591308
  REMARK    GeneRIF: Tuberculosis alters immune-metabolic pathways resulting in
            perturbed IL-1 responses.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 159)
  AUTHORS   Summer B, Lill D, Remmel K, Schraml A, Schopf C, Banke IJ,
            Kuechenhoff H, Maierhofer T, Endres S and Thomas P.
  TITLE     An interleukin-1 polymorphism additionally intensified by atopy as
            prognostic factor for aseptic non-mechanical complications in metal
            knee and hip arthroplasty
  JOURNAL   Front Immunol 13, 1050315 (2022)
   PUBMED   36518750
  REMARK    GeneRIF: An interleukin-1 polymorphism additionally intensified by
            atopy as prognostic factor for aseptic non-mechanical complications
            in metal knee and hip arthroplasty.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 159)
  AUTHORS   Yang K, Xiao Q, Zhang R, Meng D, Wang J, Wei Q and Jiang H.
  TITLE     Gene locus polymorphisms and expression levels of interleukin-1 in
            lumbar disc disease: A MOOSE-compliant meta-analysis and
            immunohistochemical study
  JOURNAL   Medicine (Baltimore) 101 (43), e31152 (2022)
   PUBMED   36316862
  REMARK    GeneRIF: Gene locus polymorphisms and expression levels of
            interleukin-1 in lumbar disc disease: A MOOSE-compliant
            meta-analysis and immunohistochemical study.
REFERENCE   4  (residues 1 to 159)
  AUTHORS   Mi J, Liu Z, Pei S, Wu X, Zhao N, Jiang L, Zhang Z and Bai X.
  TITLE     Mendelian randomization study for the roles of IL-18 and IL-1
            receptor antagonist in the development of inflammatory bowel
            disease
  JOURNAL   Int Immunopharmacol 110, 109020 (2022)
   PUBMED   35843146
  REMARK    GeneRIF: Mendelian randomization study for the roles of IL-18 and
            IL-1 receptor antagonist in the development of inflammatory bowel
            disease.
REFERENCE   5  (residues 1 to 159)
  AUTHORS   Mier-Cabrera J, Cruz-Orozco O, de la Jara-Diaz J, Galicia-Castillo
            O, Buenrostro-Jauregui M, Parra-Carriedo A and Hernandez-Guerrero
            C.
  TITLE     Polymorphisms of TNF-alpha (- 308), IL-1beta (+ 3954) and IL1-Ra
            (VNTR) are associated to severe stage of endometriosis in Mexican
            women: a case control study
  JOURNAL   BMC Womens Health 22 (1), 356 (2022)
   PUBMED   36028805
  REMARK    GeneRIF: Polymorphisms of TNF-alpha (- 308), IL-1beta (+ 3954) and
            IL1-Ra (VNTR) are associated to severe stage of endometriosis in
            Mexican women: a case control study.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 159)
  AUTHORS   Tabibzadeh S and Sun XZ.
  TITLE     Cytokine expression in human endometrium throughout the menstrual
            cycle
  JOURNAL   Hum Reprod 7 (9), 1214-1221 (1992)
   PUBMED   1479000
REFERENCE   7  (residues 1 to 159)
  AUTHORS   Steinkasserer A, Spurr NK, Cox S, Jeggo P and Sim RB.
  TITLE     The human IL-1 receptor antagonist gene (IL1RN) maps to chromosome
            2q14-q21, in the region of the IL-1 alpha and IL-1 beta loci
  JOURNAL   Genomics 13 (3), 654-657 (1992)
   PUBMED   1386337
REFERENCE   8  (residues 1 to 159)
  AUTHORS   Stockman BJ, Scahill TA, Roy M, Ulrich EL, Strakalaitis NA, Brunner
            DP, Yem AW and Deibel MR Jr.
  TITLE     Secondary structure and topology of interleukin-1 receptor
            antagonist protein determined by heteronuclear three-dimensional
            NMR spectroscopy
  JOURNAL   Biochemistry 31 (23), 5237-5245 (1992)
   PUBMED   1534997
REFERENCE   9  (residues 1 to 159)
  AUTHORS   Lennard A, Gorman P, Carrier M, Griffiths S, Scotney H, Sheer D and
            Solari R.
  TITLE     Cloning and chromosome mapping of the human interleukin-1 receptor
            antagonist gene
  JOURNAL   Cytokine 4 (2), 83-89 (1992)
   PUBMED   1385987
REFERENCE   10 (residues 1 to 159)
  AUTHORS   Haskill S, Martin G, Van Le L, Morris J, Peace A, Bigler CF, Jaffe
            GJ, Hammerberg C, Sporn SA, Fong S et al.
  TITLE     cDNA cloning of an intracellular form of the human interleukin 1
            receptor antagonist associated with epithelium
  JOURNAL   Proc Natl Acad Sci U S A 88 (9), 3681-3685 (1991)
   PUBMED   1827201
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M55646.1, BC009745.2 and
            AC024704.9.
            
            Summary: The protein encoded by this gene is a member of the
            interleukin 1 cytokine family. This protein inhibits the activities
            of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and
            modulates a variety of interleukin 1 related immune and
            inflammatory responses, particularly in the acute phase of
            infection and inflammation. This gene and five other closely
            related cytokine genes form a gene cluster spanning approximately
            400 kb on chromosome 2. A polymorphism of this gene is reported to
            be associated with increased risk of osteoporotic fractures and
            gastric cancer. Several alternatively spliced transcript variants
            encoding distinct isoforms have been reported. [provided by RefSeq,
            Aug 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC009745.2, SRR11853564.15950.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in immune response or antiviral
                                   activity
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..159
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.1"
     Protein         1..159
                     /product="interleukin-1 receptor antagonist protein
                     isoform 3"
                     /note="intracellular IL-1 receptor antagonist type II;
                     interleukin-1 receptor antagonist protein; intracellular
                     interleukin-1 receptor antagonist (icIL-1ra); type II
                     interleukin-1 receptor antagonist; IL1 inhibitor"
                     /calculated_mol_wt=17757
     Region          16..156
                     /region_name="IL1"
                     /note="Interleukin-1 homologues; smart00125"
                     /db_xref="CDD:128430"
     Site            order(21,23,152)
                     /site_type="active"
                     /note="receptor activation site [active]"
                     /db_xref="CDD:238048"
     Site            order(26..27,36,38,41,43,46,49,57,97..99,109,111,113..115,
                     136)
                     /site_type="active"
                     /note="receptor binding site [active]"
                     /db_xref="CDD:238048"
     CDS             1..159
                     /gene="IL1RN"
                     /gene_synonym="DIRA; ICIL-1RA; IL-1ra; IL-1ra3; IL-1RN;
                     IL1F3; IL1RA; IRAP; MVCD4"
                     /coded_by="NM_000577.5:49..528"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS2113.1"
                     /db_xref="GeneID:3557"
                     /db_xref="HGNC:HGNC:6000"
                     /db_xref="MIM:147679"
ORIGIN      
        1 maleticrps grksskmqaf riwdvnqktf ylrnnqlvag ylqgpnvnle ekidvvpiep
       61 halflgihgg kmclscvksg detrlqleav nitdlsenrk qdkrfafirs dsgpttsfes
      121 aacpgwflct ameadqpvsl tnmpdegvmv tkfyfqede
//
LOCUS       NP_055977                724 aa            linear   PRI 29-JAN-2023
DEFINITION  long-chain-fatty-acid--CoA ligase ACSBG1 isoform 1 [Homo sapiens].
ACCESSION   NP_055977
VERSION     NP_055977.3
DBSOURCE    REFSEQ: accession NM_015162.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 724)
  AUTHORS   Yu Z, Ueno K, Funayama R, Sakai M, Nariai N, Kojima K, Kikuchi Y,
            Li X, Ono C, Kanatani J, Ono J, Iwamoto K, Hashimoto K, Kinoshita
            K, Nakayama K, Nagasaki M and Tomita H.
  TITLE     Sex-Specific Differences in the Transcriptome of the Human
            Dorsolateral Prefrontal Cortex in Schizophrenia
  JOURNAL   Mol Neurobiol 60 (2), 1083-1098 (2023)
   PUBMED   36414910
  REMARK    GeneRIF: Sex-Specific Differences in the Transcriptome of the Human
            Dorsolateral Prefrontal Cortex in Schizophrenia.
REFERENCE   2  (residues 1 to 724)
  AUTHORS   Ohkuni A, Ohno Y and Kihara A.
  TITLE     Identification of acyl-CoA synthetases involved in the mammalian
            sphingosine 1-phosphate metabolic pathway
  JOURNAL   Biochem Biophys Res Commun 442 (3-4), 195-201 (2013)
   PUBMED   24269233
REFERENCE   3  (residues 1 to 724)
  AUTHORS   Pei Z, Jia Z and Watkins PA.
  TITLE     The second member of the human and murine bubblegum family is a
            testis- and brainstem-specific acyl-CoA synthetase
  JOURNAL   J Biol Chem 281 (10), 6632-6641 (2006)
   PUBMED   16371355
REFERENCE   4  (residues 1 to 724)
  AUTHORS   Asheuer M, Bieche I, Laurendeau I, Moser A, Hainque B, Vidaud M and
            Aubourg P.
  TITLE     Decreased expression of ABCD4 and BG1 genes early in the
            pathogenesis of X-linked adrenoleukodystrophy
  JOURNAL   Hum Mol Genet 14 (10), 1293-1303 (2005)
   PUBMED   15800013
  REMARK    GeneRIF: expression tends to be correlated with the severity of
            X-linked adrenoleukodystrophy
REFERENCE   5  (residues 1 to 724)
  AUTHORS   Jia Z, Pei Z, Li Y, Wei L, Smith KD and Watkins PA.
  TITLE     X-linked adrenoleukodystrophy: role of very long-chain acyl-CoA
            synthetases
  JOURNAL   Mol Genet Metab 83 (1-2), 117-127 (2004)
   PUBMED   15464426
REFERENCE   6  (residues 1 to 724)
  AUTHORS   Fraisl P, Forss-Petter S, Zigman M and Berger J.
  TITLE     Murine bubblegum orthologue is a microsomal very long-chain
            acyl-CoA synthetase
  JOURNAL   Biochem J 377 (Pt 1), 85-93 (2004)
   PUBMED   14516277
REFERENCE   7  (residues 1 to 724)
  AUTHORS   Pei Z, Oey NA, Zuidervaart MM, Jia Z, Li Y, Steinberg SJ, Smith KD
            and Watkins PA.
  TITLE     The acyl-CoA synthetase 'bubblegum' (lipidosin): further
            characterization and role in neuronal fatty acid beta-oxidation
  JOURNAL   J Biol Chem 278 (47), 47070-47078 (2003)
   PUBMED   12975357
REFERENCE   8  (residues 1 to 724)
  AUTHORS   Moriya-Sato A, Hida A, Inagawa-Ogashiwa M, Wada MR, Sugiyama K,
            Shimizu J, Yabuki T, Seyama Y and Hashimoto N.
  TITLE     Novel acyl-CoA synthetase in adrenoleukodystrophy target tissues
  JOURNAL   Biochem Biophys Res Commun 279 (1), 62-68 (2000)
   PUBMED   11112418
REFERENCE   9  (residues 1 to 724)
  AUTHORS   Steinberg SJ, Morgenthaler J, Heinzer AK, Smith KD and Watkins PA.
  TITLE     Very long-chain acyl-CoA synthetases. Human 'bubblegum' represents
            a new family of proteins capable of activating very long-chain
            fatty acids
  JOURNAL   J Biol Chem 275 (45), 35162-35169 (2000)
   PUBMED   10954726
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC401742.1, AK054882.1,
            BC009289.2 and AC090260.13.
            On Jan 3, 2003 this sequence version replaced NP_055977.2.
            
            Summary: The protein encoded by this gene possesses long-chain
            acyl-CoA synthetase activity. It is thought to play a central role
            in brain very long-chain fatty acids metabolism and myelinogenesis.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.83676.1,
                                           SRR1803616.152834.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000258873.9/ ENSP00000258873.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..724
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.1"
     Protein         1..724
                     /product="long-chain-fatty-acid--CoA ligase ACSBG1 isoform
                     1"
                     /EC_number="6.2.1.3"
                     /note="very long-chain acyl-CoA synthetase;
                     long-chain-fatty-acid--CoA ligase ACSBG1; bubblegum;
                     lipidosin"
                     /calculated_mol_wt=81160
     Region          1..30
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96GR2.2)"
     Site            53
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q924N5; propagated from
                     UniProtKB/Swiss-Prot (Q96GR2.2)"
     Site            56
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q99PU5; propagated from
                     UniProtKB/Swiss-Prot (Q96GR2.2)"
     Region          125..719
                     /region_name="ACSBG_like"
                     /note="Bubblegum-like very long-chain fatty acid CoA
                     synthetase (VL-FACS); cd05933"
                     /db_xref="CDD:341256"
     Site            order(279,282..287,289..290)
                     /site_type="other"
                     /note="acyl-activating enzyme (AAE) consensus motif"
                     /db_xref="CDD:341256"
     Site            order(282,404..405,472..477,550,562,565,577,699)
                     /site_type="other"
                     /note="putative AMP binding site [chemical binding]"
                     /db_xref="CDD:341256"
     Site            order(282,326..327,375,377..378,381,404..405,472..477,550,
                     562,565,574..577,676)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:341256"
     Site            order(326,377..378,381,404,574..576,670,676)
                     /site_type="other"
                     /note="putative CoA binding site [chemical binding]"
                     /db_xref="CDD:341256"
     Site            658
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q99PU5; propagated from
                     UniProtKB/Swiss-Prot (Q96GR2.2)"
     CDS             1..724
                     /gene="ACSBG1"
                     /gene_synonym="BG; BG1; BGM; GR-LACS; LPD"
                     /coded_by="NM_015162.5:65..2239"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS10298.1"
                     /db_xref="GeneID:23205"
                     /db_xref="HGNC:HGNC:29567"
                     /db_xref="MIM:614362"
ORIGIN      
        1 mprnsgagyg cphgdpsmld sretpqesrq dmivrttqek lktssltdrq plskeslnha
       61 lelsvpekvn naqwdapeea lwttradgrv rlridpscpq lpytvhrmfy ealdkygdli
      121 algfkrqdkw ehisysqyyl larraakgfl klglkqahsv ailgfnspew ffsavgtvfa
      181 ggivtgiytt sspeacqyia ydccanvimv dtqkqlekil kiwkqlphlk avviykeppp
      241 nkmanvytme efmelgnevp eealdaiidt qqpnqccvlv ytsgttgnpk gvmlsqdnit
      301 wtarygsqag dirpaevqqe vvvsylplsh iaaqiydlwt giqwgaqvcf aepdalkgsl
      361 vntlrevept shmgvprvwe kimeriqeva aqsgfirrkm llwamsvtle qnltcpgsdl
      421 kpfttrlady lvlakvrqal gfakcqknfy gaapmmaetq hfflglnirl yagyglsets
      481 gphfmsspyn yrlyssgklv pgcrvklvnq daegigeicl wgrtifmgyl nmedktceai
      541 deegwlhtgd agrldadgfl yitgrlkeli itaggenvpp vpieeavkme lpiisnamli
      601 gdqrkflsml ltlkctldpd tsdqtdnlte qamefcqrvg srattvseii ekkdeavyqa
      661 ieegirrvnm naaarpyhiq kwailerdfs isggelgptm klkrltvlek ykgiidsfyq
      721 eqkm
//
LOCUS       NP_001229813             721 aa            linear   PRI 29-JAN-2023
DEFINITION  zinc finger and BTB domain-containing protein 17 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001229813
VERSION     NP_001229813.1
DBSOURCE    REFSEQ: accession NM_001242884.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 721)
  AUTHORS   Yang J, Hou C, Wang H, Perez EA, Do-Umehara HC, Dong H, Arunagiri
            V, Tong F, Van Scoyk M, Cho M, Liu X, Ge X, Winn RA, Ridge KM, Wang
            X, Chandel NS and Liu J.
  TITLE     Miz1 promotes KRAS-driven lung tumorigenesis by repressing the
            protocadherin Pcdh10
  JOURNAL   Cancer Lett 555, 216025 (2023)
   PUBMED   36538983
  REMARK    GeneRIF: Miz1 promotes KRAS-driven lung tumorigenesis by repressing
            the protocadherin Pcdh10.
REFERENCE   2  (residues 1 to 721)
  AUTHORS   Krenz B, Gebhardt-Wolf A, Ade CP, Gaballa A, Roehrig F, Vendelova
            E, Baluapuri A, Eilers U, Gallant P, D'Artista L, Wiegering A,
            Gasteiger G, Rosenfeldt MT, Bauer S, Zender L, Wolf E and Eilers M.
  TITLE     MYC- and MIZ1-Dependent Vesicular Transport of Double-Strand RNA
            Controls Immune Evasion in Pancreatic Ductal Adenocarcinoma
  JOURNAL   Cancer Res 81 (16), 4242-4256 (2021)
   PUBMED   34145038
  REMARK    GeneRIF: MYC- and MIZ1-Dependent Vesicular Transport of
            Double-Strand RNA Controls Immune Evasion in Pancreatic Ductal
            Adenocarcinoma.
REFERENCE   3  (residues 1 to 721)
  AUTHORS   Yang J, Perez EA, Hou C, Zhang P, Van Scoyk M, Winn RA, Rong L and
            Liu J.
  TITLE     Identification of the SARS-CoV-2 Entry Receptor ACE2 as a Direct
            Target for Transcriptional Repression by Miz1
  JOURNAL   Front Immunol 12, 648815 (2021)
   PUBMED   34305888
  REMARK    GeneRIF: Identification of the SARS-CoV-2 Entry Receptor ACE2 as a
            Direct Target for Transcriptional Repression by Miz1.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 721)
  AUTHORS   Shostak A, Schermann G, Diernfellner A and Brunner M.
  TITLE     MXD/MIZ1 transcription regulatory complexes activate the expression
            of MYC-repressed genes
  JOURNAL   FEBS Lett 595 (12), 1639-1655 (2021)
   PUBMED   33914337
  REMARK    GeneRIF: MXD/MIZ1 transcription regulatory complexes activate the
            expression of MYC-repressed genes.
REFERENCE   5  (residues 1 to 721)
  AUTHORS   Liu J, Zuo Z, Zou M, Finkel T and Liu S.
  TITLE     Identification of the transcription factor Miz1 as an essential
            regulator of diphthamide biosynthesis using a CRISPR-mediated
            genome-wide screen
  JOURNAL   PLoS Genet 16 (10), e1009068 (2020)
   PUBMED   33057331
  REMARK    GeneRIF: Identification of the transcription factor Miz1 as an
            essential regulator of diphthamide biosynthesis using a
            CRISPR-mediated genome-wide screen.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 721)
  AUTHORS   Wu L, Wu H, Ma L, Sangiorgi F, Wu N, Bell JR, Lyons GE and Maxson
            R.
  TITLE     Miz1, a novel zinc finger transcription factor that interacts with
            Msx2 and enhances its affinity for DNA
  JOURNAL   Mech Dev 65 (1-2), 3-17 (1997)
   PUBMED   9256341
  REMARK    Erratum:[Mech Dev 1997 Dec;69(1-2):219]
REFERENCE   7  (residues 1 to 721)
  AUTHORS   Schneider A, Peukert K, Eilers M and Hanel F.
  TITLE     Association of Myc with the zinc-finger protein Miz-1 defines a
            novel pathway for gene regulation by Myc
  JOURNAL   Curr Top Microbiol Immunol 224, 137-146 (1997)
   PUBMED   9308237
REFERENCE   8  (residues 1 to 721)
  AUTHORS   Tommerup N and Vissing H.
  TITLE     Isolation and fine mapping of 16 novel human zinc finger-encoding
            cDNAs identify putative candidate genes for developmental and
            malignant disorders
  JOURNAL   Genomics 27 (2), 259-264 (1995)
   PUBMED   7557990
REFERENCE   9  (residues 1 to 721)
  AUTHORS   Lichter P, Bray P, Ried T, Dawid IB and Ward DC.
  TITLE     Clustering of C2-H2 zinc finger motif sequences within telomeric
            and fragile site regions of human chromosomes
  JOURNAL   Genomics 13 (4), 999-1007 (1992)
   PUBMED   1505991
REFERENCE   10 (residues 1 to 721)
  AUTHORS   Bray P, Lichter P, Thiesen HJ, Ward DC and Dawid IB.
  TITLE     Characterization and mapping of human genes encoding zinc finger
            proteins
  JOURNAL   Proc Natl Acad Sci U S A 88 (21), 9563-9567 (1991)
   PUBMED   1946370
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB064089.1, AK301896.1, BC126163.1 and BU634371.1.
            
            Summary: This gene encodes a zinc finger protein involved in the
            regulation of c-myc. The symbol MIZ1 has also been associated with
            PIAS2 which is a different gene located on chromosome 18. [provided
            by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK301896.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..721
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     Protein         1..721
                     /product="zinc finger and BTB domain-containing protein 17
                     isoform 1"
                     /note="zinc finger protein 60; zinc finger protein 151
                     (pHZ-67); zinc finger and BTB domain-containing protein
                     17; Myc-interacting Zn finger protein-1"
                     /calculated_mol_wt=79097
     Region          224..555
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          226..246
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          254..274
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          282..302
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(287,289,291,293..294,297..298,301,315,317,321..322,
                     325..326,329,343,345,347,349..350,353..354,357)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          310..330
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          338..358
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          366..386
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          394..414
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(399,401,403,405..406,409..410,413,427,429,433..434,
                     437..438,441,455,457,459,461..462,465..466,469)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          422..442
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          450..470
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          478..498
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          506..526
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          534..553
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Region          637..657
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..721
                     /gene="ZBTB17"
                     /gene_synonym="MIZ-1; pHZ-67; ZNF151; ZNF60"
                     /coded_by="NM_001242884.2:270..2435"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS55576.1"
                     /db_xref="GeneID:7709"
                     /db_xref="HGNC:HGNC:12936"
                     /db_xref="MIM:604084"
ORIGIN      
        1 mmcwpwplss kcrtssrpam psshllsrlp algemrrpwp qkvcpvpspg gdkrakeekv
       61 atstlsrleq agrstpigps rdlkeerggq aqsaasgaeq tekadaprep ppvelkpdpt
      121 sgmaaaeaea alsesseqem eveparkgee eqkeqeeqee egagpaevke egsqlengea
      181 peeneneesa gtdsgqelgs earglrsgty gdrteskayg svihkcedcg kefthtgnfk
      241 rhirihtgek pfscrecska fsdpaackah ekthsplkpy gceecgksyr lisllnlhkk
      301 rhsgearyrc edcgklftts gnlkrhqlvh sgekpyqcdy cgrsfsdpts kmrhlethdt
      361 dkehkcphcd kkfnqvgnlk ahlkihiadg plkcrecgkq fttsgnlkrh lrihsgekpy
      421 vcihcqrqfa dpgalqrhvr ihtgekpcqc vmcgkaftqa ssliahvrqh tgekpyvcer
      481 cgkrfvqssq lanhirhhdn irphkcsvcs kafvnvgdls khiiihtgek pylcdkcgrg
      541 fnrvdnlrsh vktvhqgkag ikilepeegs evsvvtvddm vtlatealaa tavtqltvvp
      601 vgaavtadet evlkaeiska vkqvqeedpn thilyacdsc gdkfldansl aqhvrihtaq
      661 alvmfqtdad fyqqygpggt wpagqvlqag elvfrprdga egqpalaets ptapecpppa
      721 e
//
LOCUS       NP_001093115             122 aa            linear   PRI 12-FEB-2023
DEFINITION  60S ribosomal protein L22-like 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001093115 XP_001132475 XP_001132707
VERSION     NP_001093115.1
DBSOURCE    REFSEQ: accession NM_001099645.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 122)
  AUTHORS   Yi X, Zhang C, Liu B, Gao G, Tang Y, Lu Y, Pan Z, Wang G and Feng
            W.
  TITLE     Ribosomal protein L22-like1 promotes prostate cancer progression by
            activating PI3K/Akt/mTOR signalling pathway
  JOURNAL   J Cell Mol Med 27 (3), 403-411 (2023)
   PUBMED   36625246
  REMARK    GeneRIF: Ribosomal protein L22-like1 promotes prostate cancer
            progression by activating PI3K/Akt/mTOR signalling pathway.
REFERENCE   2  (residues 1 to 122)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 122)
  AUTHORS   Rao S, Peri S, Hoffmann J, Cai KQ, Harris B, Rhodes M, Connolly DC,
            Testa JR and Wiest DL.
  TITLE     RPL22L1 induction in colorectal cancer is associated with poor
            prognosis and 5-FU resistance
  JOURNAL   PLoS One 14 (10), e0222392 (2019)
   PUBMED   31581233
  REMARK    GeneRIF: RPL22L1 might be a prognostic marker in colorectal cancer
            and predict 5-Fluorouracil responsiveness.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 122)
  AUTHORS   Matoba R, Okubo K, Hori N, Fukushima A and Matsubara K.
  TITLE     The addition of 5'-coding information to a 3'-directed cDNA library
            improves analysis of gene expression
  JOURNAL   Gene 146 (2), 199-207 (1994)
   PUBMED   8076819
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC062731.1, AC061708.17 and CA449264.1.
            On or before Jul 26, 2007 this sequence version replaced
            XP_001132707.1, XP_001132475.1.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189661.167320.1,
                                           SRR1660809.144861.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149876, SAMN03267778
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295830.13/ ENSP00000346080.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..122
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.2"
     Protein         1..122
                     /product="60S ribosomal protein L22-like 1 isoform 1"
                     /EC_number="3.6.5.3"
                     /note="60S ribosomal protein L22-like 1; large ribosomal
                     subunit protein eL22-like 1"
                     /calculated_mol_wt=14475
     Region          16..114
                     /region_name="Ribosomal_L22e"
                     /note="Ribosomal L22e protein family; pfam01776"
                     /db_xref="CDD:426423"
     Site            112
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q6P5R6.2)"
     Site            118
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q6P5R6.2)"
     Site            120
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q6P5R6.2)"
     CDS             1..122
                     /gene="RPL22L1"
                     /coded_by="NM_001099645.2:29..397"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS46955.1"
                     /db_xref="GeneID:200916"
                     /db_xref="HGNC:HGNC:27610"
ORIGIN      
        1 mapqkdrkpk rstwrfnldl thpvedgifd sgnfeqflre kvkvngktgn lgnvvhierf
       61 knkitvvsek qfskrylkyl tkkylkknnl rdwlrvvasd ketyelryfq isqdedeses
      121 ed
//
LOCUS       NP_001300870             193 aa            linear   PRI 14-FEB-2023
DEFINITION  transforming protein RhoA isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001300870
VERSION     NP_001300870.1
DBSOURCE    REFSEQ: accession NM_001313941.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 193)
  AUTHORS   Chiba Y, Adachi Y, Ando Y, Fujii S, Suto W and Sakai H.
  TITLE     A lncRNA MALAT1 is a positive regulator of RhoA protein expression
            in bronchial smooth muscle cells
  JOURNAL   Life Sci 313, 121289 (2023)
   PUBMED   36529281
  REMARK    GeneRIF: A lncRNA MALAT1 is a positive regulator of RhoA protein
            expression in bronchial smooth muscle cells.
REFERENCE   2  (residues 1 to 193)
  AUTHORS   Suzuki S, Ando F, Kitagawa S, Hara Y, Fujiki T, Mandai S, Susa K,
            Mori T, Sohara E, Rai T and Uchida S.
  TITLE     ZNF185 prevents stress fiber formation through the inhibition of
            RhoA in endothelial cells
  JOURNAL   Commun Biol 6 (1), 29 (2023)
   PUBMED   36631535
  REMARK    GeneRIF: ZNF185 prevents stress fiber formation through the
            inhibition of RhoA in endothelial cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 193)
  AUTHORS   Nakamura S, Kitazawa M, Miyagawa Y, Koyama M, Miyazaki S, Hondo N,
            Muranaka F, Tokumaru S, Yamamoto Y, Ehara T, Matsumura T, Takeoka M
            and Soejima Y.
  TITLE     RhoA G17E/Vav1 Signaling Induces Cancer Invasion via Matrix
            Metalloproteinase-9 in Gastric Cancer
  JOURNAL   Technol Cancer Res Treat 22, 15330338221146024 (2023)
   PUBMED   36617975
  REMARK    GeneRIF: RhoA G17E/Vav1 Signaling Induces Cancer Invasion via
            Matrix Metalloproteinase-9 in Gastric Cancer.
REFERENCE   4  (residues 1 to 193)
  AUTHORS   Husser MC, Ozugergin I, Resta T, Martin VJJ and Piekny AJ.
  TITLE     Cytokinetic diversity in mammalian cells is revealed by the
            characterization of endogenous anillin, Ect2 and RhoA
  JOURNAL   Open Biol 12 (11), 220247 (2022)
   PUBMED   36416720
  REMARK    GeneRIF: Cytokinetic diversity in mammalian cells is revealed by
            the characterization of endogenous anillin, Ect2 and RhoA.
REFERENCE   5  (residues 1 to 193)
  AUTHORS   Que F, Zhang L, Wang T, Xu M, Li W and Zang S.
  TITLE     RHOA G17V induces T follicular helper cell specification and
            involves angioimmunoblastic T-cell lymphoma via upregulating the
            expression of PON2 through an NF-kappaB-dependent mechanism
  JOURNAL   Oncoimmunology 11 (1), 2134536 (2022)
   PUBMED   36249275
  REMARK    GeneRIF: RHOA G17V induces T follicular helper cell specification
            and involves angioimmunoblastic T-cell lymphoma via upregulating
            the expression of PON2 through an NF-kappaB-dependent mechanism.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 193)
  AUTHORS   Fagan,K.P., Oliveira,L. and Pittler,S.J.
  TITLE     Sequence of rho small GTP-binding protein cDNAs from human retina
            and identification of novel 5' end cloning artifacts
  JOURNAL   Exp Eye Res 59 (2), 235-237 (1994)
   PUBMED   7835413
REFERENCE   7  (residues 1 to 193)
  AUTHORS   Nemoto Y, Namba T, Teru-uchi T, Ushikubi F, Morii N and Narumiya S.
  TITLE     A rho gene product in human blood platelets. I. Identification of
            the platelet substrate for botulinum C3 ADP-ribosyltransferase as
            rhoA protein
  JOURNAL   J Biol Chem 267 (29), 20916-20920 (1992)
   PUBMED   1328215
REFERENCE   8  (residues 1 to 193)
  AUTHORS   Moscow JA, Morrow CS, He R, Mullenbach GT and Cowan KH.
  TITLE     Structure and function of the 5'-flanking sequence of the human
            cytosolic selenium-dependent glutathione peroxidase gene (hgpx1)
  JOURNAL   J Biol Chem 267 (9), 5949-5958 (1992)
   PUBMED   1556108
REFERENCE   9  (residues 1 to 193)
  AUTHORS   Cannizzaro LA, Madaule P, Hecht F, Axel R, Croce CM and Huebner K.
  TITLE     Chromosome localization of human ARH genes, a ras-related gene
            family
  JOURNAL   Genomics 6 (2), 197-203 (1990)
   PUBMED   2407642
REFERENCE   10 (residues 1 to 193)
  AUTHORS   Yeramian,P., Chardin,P., Madaule,P. and Tavitian,A.
  TITLE     Nucleotide sequence of human rho cDNA clone 12
  JOURNAL   Nucleic Acids Res 15 (4), 1869 (1987)
   PUBMED   3822842
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104452.2, BF966305.1 and
            AC121247.2.
            
            Summary: This gene encodes a member of the Rho family of small
            GTPases, which cycle between inactive GDP-bound and active
            GTP-bound states and function as molecular switches in signal
            transduction cascades. Rho proteins promote reorganization of the
            actin cytoskeleton and regulate cell shape, attachment, and
            motility. Overexpression of this gene is associated with tumor cell
            proliferation and metastasis. Multiple alternatively spliced
            variants have been identified. [provided by RefSeq, Sep 2015].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14478891.1103308.1, BF966305.1
                                           [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..193
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..193
                     /product="transforming protein RhoA isoform 1 precursor"
                     /EC_number="3.6.5.2"
                     /note="transforming protein RhoA; oncogene RHO H12;
                     Aplysia ras-related homolog 12; small GTP binding protein
                     RhoA; epididymis secretory sperm binding protein"
                     /calculated_mol_wt=21637
     mat_peptide     1..190
                     /product="Transforming protein RhoA. /id=PRO_0000030411"
                     /note="propagated from UniProtKB/Swiss-Prot (P61586.1)"
                     /calculated_mol_wt=21443
     Region          5..179
                     /region_name="RhoA_like"
                     /note="Ras homology family A (RhoA)-like includes RhoA,
                     RhoB and RhoC; cd01870"
                     /db_xref="CDD:206662"
     Site            order(5,34,37..38,41,43,45,54,58..59,61..63,66,68,72)
                     /site_type="other"
                     /note="GEF (guanine nucleotide exchange factor)
                     interaction site [polypeptide binding]"
                     /db_xref="CDD:206662"
     Site            12..19
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206662"
     Site            order(15..20,34..35,37,59..60,118,120,161..162)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206662"
     Site            order(23,25..29,42..43,45..47,52..54,163..164,168..169,
                     172)
                     /site_type="active"
                     /note="PKN/PRK1 effector interaction site [active]"
                     /db_xref="CDD:206662"
     Site            order(34,36,38..39,63..66,69,72,94)
                     /site_type="other"
                     /note="GAP (GTPase-activating protein) interaction site
                     [polypeptide binding]"
                     /db_xref="CDD:206662"
     Region          34..42
                     /region_name="Effector region. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P61586.1)"
     Site            34..42
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206662"
     Site            34
                     /site_type="glycosylation"
                     /note="(Microbial infection) O-linked (GlcNAc) tyrosine,
                     by Photorhabdus PAU_02230, alternate.
                     /evidence=ECO:0000269|PubMed:24141704; propagated from
                     UniProtKB/Swiss-Prot (P61586.1)"
     Site            order(37..38,61,66,68..69,71..72,75,105..106,108)
                     /site_type="other"
                     /note="GDI (guanine nucleotide dissociation inhibitor)
                     interaction site [polypeptide binding]"
                     /db_xref="CDD:206662"
     Site            37
                     /site_type="glycosylation"
                     /note="(Microbial infection) O-alpha-linked (GlcNAc)
                     threonine, by C.novyi toxin TcdA, alternate.
                     /evidence=ECO:0000269|PubMed:8810274; (Microbial
                     infection) O-linked (Glc) threonine, by C.difficile toxins
                     TcdA and TcdB, alternate.
                     /evidence=ECO:0000269|PubMed:24905543,
                     ECO:0000269|PubMed:7775453, ECO:0000269|PubMed:7777059;
                     propagated from UniProtKB/Swiss-Prot (P61586.1)"
     Site            37
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206662"
     Site            order(39,65..69,72,97,101,105)
                     /site_type="active"
                     /note="Mdia effector interaction site [active]"
                     /db_xref="CDD:206662"
     Site            order(39..40,65..66,68..69,72)
                     /site_type="other"
                     /note="Rho kinase (ROCK) effector interaction site
                     [polypeptide binding]"
                     /db_xref="CDD:206662"
     Site            59..62
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206662"
     Region          61..78
                     /region_name="Switch II region, involved in RAP1GDS1
                     isoform 2 binding. /evidence=ECO:0000269|PubMed:30190425,
                     ECO:0007744|PDB:5ZHX"
                     /note="propagated from UniProtKB/Swiss-Prot (P61586.1)"
     Site            62..79
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206662"
     Site            117..120
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206662"
     Site            160..162
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206662"
     Site            188
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKG/PRKG1.
                     /evidence=ECO:0000269|PubMed:11162591; propagated from
                     UniProtKB/Swiss-Prot (P61586.1)"
     Site            189..190
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by yopT.
                     /evidence=ECO:0000269|PubMed:12062101,
                     ECO:0000269|PubMed:12538863; propagated from
                     UniProtKB/Swiss-Prot (P61586.1)"
     Site            190
                     /site_type="methylation"
                     /note="Cysteine methyl ester.
                     /evidence=ECO:0000250|UniProtKB:P61585; propagated from
                     UniProtKB/Swiss-Prot (P61586.1)"
     CDS             1..193
                     /gene="RHOA"
                     /gene_synonym="ARH12; ARHA; EDFAOB; RHO12; RHOH12"
                     /coded_by="NM_001313941.2:255..836"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS2795.1"
                     /db_xref="GeneID:387"
                     /db_xref="HGNC:HGNC:667"
                     /db_xref="MIM:165390"
ORIGIN      
        1 maairkklvi vgdgacgktc llivfskdqf pevyvptvfe nyvadievdg kqvelalwdt
       61 agqedydrlr plsypdtdvi lmcfsidspd slenipekwt pevkhfcpnv piilvgnkkd
      121 lrndehtrre lakmkqepvk peegrdmanr igafgymecs aktkdgvrev fematraalq
      181 arrgkkksgc lvl
//
LOCUS       NP_003295                759 aa            linear   PRI 26-FEB-2023
DEFINITION  short transient receptor potential channel 1 isoform 2 [Homo
            sapiens].
ACCESSION   NP_003295
VERSION     NP_003295.1
DBSOURCE    REFSEQ: accession NM_003304.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 759)
  AUTHORS   Qi H, Wu F and Wang H.
  TITLE     Function of TRPC1 in modulating hepatocellular carcinoma
            progression
  JOURNAL   Med Oncol 40 (3), 97 (2023)
   PUBMED   36797544
  REMARK    GeneRIF: Function of TRPC1 in modulating hepatocellular carcinoma
            progression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 759)
  AUTHORS   Radoslavova S, Fels B, Petho Z, Gruner M, Ruck T, Meuth SG, Folcher
            A, Prevarskaya N, Schwab A and Ouadid-Ahidouch H.
  TITLE     TRPC1 channels regulate the activation of pancreatic stellate cells
            through ERK1/2 and SMAD2 pathways and perpetuate their
            pressure-mediated activation
  JOURNAL   Cell Calcium 106, 102621 (2022)
   PUBMED   35905654
  REMARK    GeneRIF: TRPC1 channels regulate the activation of pancreatic
            stellate cells through ERK1/2 and SMAD2 pathways and perpetuate
            their pressure-mediated activation.
REFERENCE   3  (residues 1 to 759)
  AUTHORS   Wan H, Gao N, Lu W, Lu C, Chen J, Wang Y and Dong H.
  TITLE     NCX1 coupled with TRPC1 to promote gastric cancer via
            Ca2+/AKT/beta-catenin pathway
  JOURNAL   Oncogene 41 (35), 4169-4182 (2022)
   PUBMED   35882979
  REMARK    GeneRIF: NCX1 coupled with TRPC1 to promote gastric cancer via
            Ca(2+)/AKT/beta-catenin pathway.
REFERENCE   4  (residues 1 to 759)
  AUTHORS   Schnipper J, Kouba S, Hague F, Girault A, Rybarczyk P, Telliez MS,
            Guenin S, Tebbakha R, Sevestre H, Ahidouch A, Pedersen SF and
            Ouadid-Ahidouch H.
  TITLE     The TRPC1 Channel Forms a PI3K/CaM Complex and Regulates Pancreatic
            Ductal Adenocarcinoma Cell Proliferation in a Ca2+-Independent
            Manner
  JOURNAL   Int J Mol Sci 23 (14), 7923 (2022)
   PUBMED   35887266
  REMARK    GeneRIF: The TRPC1 Channel Forms a PI3K/CaM Complex and Regulates
            Pancreatic Ductal Adenocarcinoma Cell Proliferation in a
            Ca(2+)-Independent Manner.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 759)
  AUTHORS   Ke C and Long S.
  TITLE     Dysregulated transient receptor potential channel 1 expression and
            its correlation with clinical features and survival profile in
            surgical non-small-cell lung cancer patients
  JOURNAL   J Clin Lab Anal 36 (3), e24229 (2022)
   PUBMED   35106847
  REMARK    GeneRIF: Dysregulated transient receptor potential channel 1
            expression and its correlation with clinical features and survival
            profile in surgical non-small-cell lung cancer patients.
REFERENCE   6  (residues 1 to 759)
  AUTHORS   Zitt C, Zobel A, Obukhov AG, Harteneck C, Kalkbrenner F, Luckhoff A
            and Schultz G.
  TITLE     Cloning and functional expression of a human Ca2+-permeable cation
            channel activated by calcium store depletion
  JOURNAL   Neuron 16 (6), 1189-1196 (1996)
   PUBMED   8663995
REFERENCE   7  (residues 1 to 759)
  AUTHORS   Zhu X, Jiang M, Peyton M, Boulay G, Hurst R, Stefani E and
            Birnbaumer L.
  TITLE     trp, a novel mammalian gene family essential for agonist-activated
            capacitative Ca2+ entry
  JOURNAL   Cell 85 (5), 661-671 (1996)
   PUBMED   8646775
REFERENCE   8  (residues 1 to 759)
  AUTHORS   Zhu X, Chu PB, Peyton M and Birnbaumer L.
  TITLE     Molecular cloning of a widely expressed human homologue for the
            Drosophila trp gene
  JOURNAL   FEBS Lett 373 (3), 193-198 (1995)
   PUBMED   7589464
REFERENCE   9  (residues 1 to 759)
  AUTHORS   Wes PD, Chevesich J, Jeromin A, Rosenberg C, Stetten G and Montell
            C.
  TITLE     TRPC1, a human homolog of a Drosophila store-operated channel
  JOURNAL   Proc Natl Acad Sci U S A 92 (21), 9652-9656 (1995)
   PUBMED   7568191
REFERENCE   10 (residues 1 to 759)
  AUTHORS   Abdel-Malek Z, Swope V, Collins C, Boissy R, Zhao H and Nordlund J.
  TITLE     Contribution of melanogenic proteins to the heterogeneous
            pigmentation of human melanocytes
  JOURNAL   J Cell Sci 106 (Pt 4), 1323-1331 (1993)
   PUBMED   8126111
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC072028.14, X89066.1,
            BX331349.2 and DB185459.1.
            
            Summary: The protein encoded by this gene is a membrane protein
            that can form a non-selective channel permeable to calcium and
            other cations. The encoded protein appears to be induced to form
            channels by a receptor tyrosine kinase-activated
            phosphatidylinositol second messenger system and also by depletion
            of intracellular calcium stores. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2011].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (2) has the same
            N- and C-termini but is shorter compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X89066.1, SRR14038191.1617330.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..759
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q23"
     Protein         1..759
                     /product="short transient receptor potential channel 1
                     isoform 2"
                     /note="short transient receptor potential channel 1;
                     transient receptor potential canonical 1; transient
                     receptor protein 1; capacitative calcium channel protein
                     Trp1"
                     /calculated_mol_wt=87486
     Region          48..740
                     /region_name="TRPV"
                     /note="Transient Receptor Potential channel, Vanilloid
                     subfamily (TRPV); cl40437"
                     /db_xref="CDD:454755"
     Site            order(53,56..58,60..61,65,68,81,83,85,89..90,93..95,
                     97..98,102,105,117,119,121,130..131,134..136,138..139,143,
                     146)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          83..117
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          119..149
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..759
                     /gene="TRPC1"
                     /gene_synonym="HTRP-1; TRP1"
                     /coded_by="NM_003304.5:527..2806"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS3126.1"
                     /db_xref="GeneID:7220"
                     /db_xref="HGNC:HGNC:12333"
                     /db_xref="MIM:602343"
ORIGIN      
        1 mmaalypstd lsgasssslp sspsssspne vmalkdvrev keentlnekl fllacdkgdy
       61 ymvkkileen ssgdlnincv dvlgrnavti tienenldil qllldygcqk lmeriqnpey
      121 sttmdvapvi laahrnnyei ltmllkqdvs lpkphavgce ctlcsaknkk dslrhsrfrl
      181 diyrclaspa limlteedpi lrafelsadl kelslvevef rndyeelarq ckmfakdlla
      241 qarnsrelev ilnhtssdep ldkrglleer mnlsrlklai kynqkefvsq sncqqflntv
      301 wfgqmsgyrr kptckkimtv ltvgifwpvl slcyliapks qfgriihtpf mkfiihgasy
      361 ftfllllnly slvynedkkn tmgpalerid yllilwiigm iwsdikrlwy egledflees
      421 rnqlsfvmns lylatfalkv vahnkfhdfa drkdwdafhp tlvaeglfaf anvlsylrlf
      481 fmyttssilg plqismgqml qdfgkflgmf llvlfsftig ltqlydkgyt skeqkdcvgi
      541 fceqqsndtf hsfigtcfal fwyifslahv aifvtrfsyg eelqsfvgav ivgtynvvvv
      601 ivltkllvam lhksfqlian hedkewkfar aklwlsyfdd kctlpppfni ipspkticym
      661 isslskwics htskgkvkrq nslkewrnlk qkrdenyqkv mcclvhrylt smrqkmqstd
      721 qatvenlnel rqdlskfrne irdllgfrts kyamfyprn
//
LOCUS       NP_001002837             638 aa            linear   PRI 14-MAR-2023
DEFINITION  phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform c
            [Homo sapiens].
ACCESSION   NP_001002837
VERSION     NP_001002837.1
DBSOURCE    REFSEQ: accession NM_001002837.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 638)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 638)
  AUTHORS   Dong R, Zhu T, Benedetti L, Gowrishankar S, Deng H, Cai Y, Wang X,
            Shen K and De Camilli P.
  TITLE     The inositol 5-phosphatase INPP5K participates in the fine control
            of ER organization
  JOURNAL   J Cell Biol 217 (10), 3577-3592 (2018)
   PUBMED   30087126
REFERENCE   3  (residues 1 to 638)
  AUTHORS   Zhu T, Yuan J, Wang Y, Gong C, Xie Y and Li H.
  TITLE     MiR-661 contributed to cell proliferation of human ovarian cancer
            cells by repressing INPP5J expression
  JOURNAL   Biomed Pharmacother 75, 123-128 (2015)
   PUBMED   26282217
  REMARK    GeneRIF: Suggest miR-661 functions as a tumor promoter by targeting
            the INPP5J gene, and then promoting cell proliferation of ovarian
            cancer cells.
REFERENCE   4  (residues 1 to 638)
  AUTHORS   Ooms LM, Binge LC, Davies EM, Rahman P, Conway JR, Gurung R,
            Ferguson DT, Papa A, Fedele CG, Vieusseux JL, Chai RC, Koentgen F,
            Price JT, Tiganis T, Timpson P, McLean CA and Mitchell CA.
  TITLE     The Inositol Polyphosphate 5-Phosphatase PIPP Regulates
            AKT1-Dependent Breast Cancer Growth and Metastasis
  JOURNAL   Cancer Cell 28 (2), 155-169 (2015)
   PUBMED   26267533
  REMARK    GeneRIF: Findings indicate inositol polyphosphate 5-phosphatase
            PIPP (INPP5J) as a suppressor of oncogenic phosphoinositide
            3-kinase (PI3K)/AKT signaling in breast cancer.
REFERENCE   5  (residues 1 to 638)
  AUTHORS   Lin C, Liu A, Zhu J, Zhang X, Wu G, Ren P, Wu J, Li M, Li J and
            Song L.
  TITLE     miR-508 sustains phosphoinositide signalling and promotes
            aggressive phenotype of oesophageal squamous cell carcinoma
  JOURNAL   Nat Commun 5, 4620 (2014)
   PUBMED   25099196
  REMARK    GeneRIF: miR-508 has a role in sustaining phosphoinositide
            signalling and promotes aggressive phenotype of oesophageal
            squamous cell carcinoma by suppressing INPP5J
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 638)
  AUTHORS   Ye Y, Jin L, Wilmott JS, Hu WL, Yosufi B, Thorne RF, Liu T, Rizos
            H, Yan XG, Dong L, Tay KH, Tseng HY, Guo ST, de Bock CE, Jiang CC,
            Wang CY, Wu M, Zhang LJ, Hersey P, Scolyer RA and Zhang XD.
  TITLE     PI(4,5)P2 5-phosphatase A regulates PI3K/Akt signalling and has a
            tumour suppressive role in human melanoma
  JOURNAL   Nat Commun 4, 1508 (2013)
   PUBMED   23443536
  REMARK    GeneRIF: these results establish the tumour suppressive role of
            phosphatidylinositol 4,5-bisphosphate 5-phosphatase and reveal
            mechanisms involved in its downregulation in melanoma.
REFERENCE   7  (residues 1 to 638)
  AUTHORS   Gurung R, Tan A, Ooms LM, McGrath MJ, Huysmans RD, Munday AD,
            Prescott M, Whisstock JC and Mitchell CA.
  TITLE     Identification of a novel domain in two mammalian
            inositol-polyphosphate 5-phosphatases that mediates membrane ruffle
            localization. The inositol 5-phosphatase skip localizes to the
            endoplasmic reticulum and translocates to membrane ruffles
            following epidermal growth factor stimulation
  JOURNAL   J Biol Chem 278 (13), 11376-11385 (2003)
   PUBMED   12536145
REFERENCE   8  (residues 1 to 638)
  AUTHORS   Mochizuki Y and Takenawa T.
  TITLE     Novel inositol polyphosphate 5-phosphatase localizes at membrane
            ruffles
  JOURNAL   J Biol Chem 274 (51), 36790-36795 (1999)
   PUBMED   10593988
  REMARK    Erratum:[J Biol Chem 2000 Jul 7;275(27):20956]
REFERENCE   9  (residues 1 to 638)
  AUTHORS   Kramer J, Aguirre-Arteta AM, Thiel C, Gross CM, Dietz R, Cardoso MC
            and Leonhardt H.
  TITLE     A novel isoform of the smooth muscle cell differentiation marker
            smoothelin
  JOURNAL   J Mol Med (Berl) 77 (2), 294-298 (1999)
   PUBMED   10023782
  REMARK    Erratum:[J Mol Med 1999 Apr;77(4):399]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BU584792.1, AK126610.1, BC109288.2 and AW014134.1.
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            segment in the 5' coding region, compared to variant 1, resulting
            in an isoform (c) that is shorter than isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK126610.1, SRR1660809.268355.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144120, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..638
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..638
                     /product="phosphatidylinositol 4,5-bisphosphate
                     5-phosphatase A isoform c"
                     /EC_number="3.1.3.56"
                     /EC_number="3.1.3.36"
                     /note="phosphatidylinositol 4,5-bisphosphate 5-phosphatase
                     A; phosphatidylinositol 1,4,5-trisphosphate 5-phosphatase;
                     phosphatidylinositol 1,3,4,5-tetrakisphosphate
                     5-phosphatase"
                     /calculated_mol_wt=70108
     Region          56..362
                     /region_name="INPP5c_INPP5J-like"
                     /note="Catalytic inositol polyphosphate 5-phosphatase
                     (INPP5c) domain of inositol polyphosphate 5-phosphatase J
                     and related proteins; cd09094"
                     /db_xref="CDD:197328"
     Site            order(63,65,97,171..172,192,195..196,235,237,239,290..291,
                     306,312,352..353)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:197328"
     Site            order(63,97,192,235,237,312,352..353)
                     /site_type="active"
                     /note="putative catalytic site [active]"
                     /db_xref="CDD:197328"
     Site            order(97,171..172,192,195..196,239,290..291,306,352)
                     /site_type="other"
                     /note="putative PI/IP binding site [chemical binding]"
                     /db_xref="CDD:197328"
     Site            order(97,352)
                     /site_type="other"
                     /note="putative Mg binding site [ion binding]"
                     /db_xref="CDD:197328"
     Site            order(192,237,353)
                     /site_type="other"
                     /note="putative phosphate binding site [ion binding]"
                     /db_xref="CDD:197328"
     Region          373..471
                     /region_name="SKICH"
                     /note="SKICH domain; pfam17751"
                     /db_xref="CDD:436012"
     CDS             1..638
                     /gene="INPP5J"
                     /gene_synonym="INPP5; PIB5PA; PIPP"
                     /coded_by="NM_001002837.2:93..2009"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS46687.1"
                     /db_xref="GeneID:27124"
                     /db_xref="HGNC:HGNC:8956"
                     /db_xref="MIM:606481"
ORIGIN      
        1 megqssrgsr rpgtraglgs lpmpqgvaqt gapskvdssf qlpakknaal gpsepritvv
       61 twnvgtampp ddvtsllhlg ggddsdgadm iaiglqevns mlnkrlkdal ftdqwselfm
      121 dalgpfnfvl vssvrmqgvi lllfakyyhl pflrdvqtdc trtglggywg nkggvsvrla
      181 afghmlcfln chlpahmdka eqrkdnfqti lslqqfqgpg aqgildhdlv fwfgdlnfri
      241 esydlhfvkf aidsdqlhql wekdqlnmak ntwpilkgfq egplnfaptf kfdvgtnkyd
      301 tsakkrkpaw tdrilwkvka pgggpspsgr kshrlqvtqh syrshmeytv sdhkpvaaqf
      361 llqfafrddm plvrlevade wvrpeqavvr yrmetvfars swdwiglyrv gfrhckdyva
      421 yvwakhedvd gntyqvtfse eslpkghgdf ilgyyshnhs iligitepfq islpsselas
      481 sstdssgtss egeddstlel lapksrspsp gkskrhrsrs pglarfpgla lrpssrerrg
      541 asrspspqsr rlsrvapdrs sngssrgsse egpsglpgpw afppavprsl gllpalrlet
      601 vdpggggswg pdrealapns lspspqghrg leegglgp
//
LOCUS       NP_009223                660 aa            linear   PRI 15-MAR-2023
DEFINITION  peroxisomal acyl-coenzyme A oxidase 1 isoform b [Homo sapiens].
ACCESSION   NP_009223
VERSION     NP_009223.2
DBSOURCE    REFSEQ: accession NM_007292.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 660)
  AUTHORS   Ding J, Xia C, Cen P, Li S, Yu L, Zhu J and Jin J.
  TITLE     MiR-103-3p promotes hepatic steatosis to aggravate nonalcoholic
            fatty liver disease by targeting of ACOX1
  JOURNAL   Mol Biol Rep 49 (8), 7297-7305 (2022)
   PUBMED   35606603
  REMARK    GeneRIF: MiR-103-3p promotes hepatic steatosis to aggravate
            nonalcoholic fatty liver disease by targeting of ACOX1.
REFERENCE   2  (residues 1 to 660)
  AUTHORS   Sonani RR, Blat A and Dubin G.
  TITLE     Crystal structures of apo- and FAD-bound human peroxisomal acyl-CoA
            oxidase provide mechanistic basis explaining clinical observations
  JOURNAL   Int J Biol Macromol 205, 203-210 (2022)
   PUBMED   35149097
  REMARK    GeneRIF: Crystal structures of apo- and FAD-bound human peroxisomal
            acyl-CoA oxidase provide mechanistic basis explaining clinical
            observations.
REFERENCE   3  (residues 1 to 660)
  AUTHORS   Abdolyousefi EN, Motalleb G and Yaghobi R.
  TITLE     Association Between ACOX1 and NRF1 Gene Expression and Hepatitis B
            and C Virus Infections and Hepatocellular Carcinoma in Liver
            Transplant Patients (Shiraz, Iran)
  JOURNAL   Exp Clin Transplant 20 (1), 52-58 (2022)
   PUBMED   34763625
  REMARK    GeneRIF: Association Between ACOX1 and NRF1 Gene Expression and
            Hepatitis B and C Virus Infections and Hepatocellular Carcinoma in
            Liver Transplant Patients (Shiraz, Iran).
REFERENCE   4  (residues 1 to 660)
  AUTHORS   Morita A, Enokizono T, Ohto T, Tanaka M, Watanabe S, Takada Y,
            Iwama K, Mizuguchi T, Matsumoto N, Morita M, Takashima S, Shimozawa
            N and Takada H.
  TITLE     Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA
            oxidase deficiency
  JOURNAL   Brain Dev 43 (3), 475-481 (2021)
   PUBMED   33234382
  REMARK    GeneRIF: Novel ACOX1 mutations in two siblings with peroxisomal
            acyl-CoA oxidase deficiency.
REFERENCE   5  (residues 1 to 660)
  AUTHORS   Vluggens A, Andreoletti P, Viswakarma N, Jia Y, Matsumoto K, Kulik
            W, Khan M, Huang J, Guo D, Yu S, Sarkar J, Singh I, Rao MS, Wanders
            RJ, Reddy JK and Cherkaoui-Malki M.
  TITLE     Reversal of mouse Acyl-CoA oxidase 1 (ACOX1) null phenotype by
            human ACOX1b isoform [corrected]
  JOURNAL   Lab Invest 90 (5), 696-708 (2010)
   PUBMED   20195242
  REMARK    GeneRIF: Data show that human ACOX1b isoform is more effective than
            the ACOX1a isoform in reversing the Acox1 null phenotype in the
            mouse.
            Erratum:[Lab Invest. 2010 May;90(5):808]
REFERENCE   6  (residues 1 to 660)
  AUTHORS   Oaxaca-Castillo D, Andreoletti P, Vluggens A, Yu S, van Veldhoven
            PP, Reddy JK and Cherkaoui-Malki M.
  TITLE     Biochemical characterization of two functional human liver acyl-CoA
            oxidase isoforms 1a and 1b encoded by a single gene
  JOURNAL   Biochem Biophys Res Commun 360 (2), 314-319 (2007)
   PUBMED   17603022
REFERENCE   7  (residues 1 to 660)
  AUTHORS   Watkins PA, McGuinness MC, Raymond GV, Hicks BA, Sisk JM, Moser AB
            and Moser HW.
  TITLE     Distinction between peroxisomal bifunctional enzyme and acyl-CoA
            oxidase deficiencies
  JOURNAL   Ann Neurol 38 (3), 472-477 (1995)
   PUBMED   7668838
REFERENCE   8  (residues 1 to 660)
  AUTHORS   Chu R, Varanasi U, Chu S, Lin Y, Usuda N, Rao MS and Reddy JK.
  TITLE     Overexpression and characterization of the human peroxisomal
            acyl-CoA oxidase in insect cells
  JOURNAL   J Biol Chem 270 (9), 4908-4915 (1995)
   PUBMED   7876265
REFERENCE   9  (residues 1 to 660)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   10 (residues 1 to 660)
  AUTHORS   Singh H, Brogan M, Johnson D and Poulos A.
  TITLE     Peroxisomal beta-oxidation of branched chain fatty acids in human
            skin fibroblasts
  JOURNAL   J Lipid Res 33 (11), 1597-1605 (1992)
   PUBMED   1464743
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC297086.1, AK292965.1,
            BQ943492.1, BC008767.2 and AC087289.9.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 24, 2003 this sequence version replaced NP_009223.1.
            
            Summary: The protein encoded by this gene is the first enzyme of
            the fatty acid beta-oxidation pathway, which catalyzes the
            desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates
            electrons directly to molecular oxygen, thereby producing hydrogen
            peroxide. Defects in this gene result in pseudoneonatal
            adrenoleukodystrophy, a disease that is characterized by
            accumulation of very long chain fatty acids. Alternatively spliced
            transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) has multiple differences in
            the coding region but maintains the reading frame, compared to
            variant 1. The encoded isoform (b, alternately known as ACOX1a per
            PMID: 17603022), is the same length as isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.212831.1,
                                           SRR7346977.2733494.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..660
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     Protein         1..660
                     /product="peroxisomal acyl-coenzyme A oxidase 1 isoform b"
                     /EC_number="1.3.3.6"
                     /note="acyl-Coenzyme A oxidase 1, palmitoyl; peroxisomal
                     fatty acyl-CoA oxidase; acyl-CoA oxidase, straight-chain;
                     peroxisomal acyl-coenzyme A oxidase 1; palmitoyl-CoA
                     oxidase; straight-chain acyl-CoA oxidase; acyl-CoA oxidase
                     1, palmitoyl"
                     /calculated_mol_wt=74293
     Region          3..637
                     /region_name="AXO"
                     /note="Peroxisomal acyl-CoA oxidase; cd01150"
                     /db_xref="CDD:173839"
     Site            26
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q15067.3)"
     Site            order(56..57,61,65,141..146,148,175..176,182..183,210,
                     224..229,231..232,307,309,318,323..325,330,390,393,
                     398..399,401,403,411..412,415,425,513,517..518,520..521,
                     629,635..636)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:173839"
     Site            order(106,136..139,176..178,232,281,285,401,420..421)
                     /site_type="active"
                     /db_xref="CDD:173839"
     Site            216
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0H0; propagated from
                     UniProtKB/Swiss-Prot (Q15067.3)"
     Site            255
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q15067.3)"
     Site            267
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q15067.3)"
     Site            272
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0H0; propagated from
                     UniProtKB/Swiss-Prot (Q15067.3)"
     Site            421
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:173839"
     Site            437
                     /site_type="active"
                     /note="end of homology with other ACAD's [active]"
                     /db_xref="CDD:173839"
     Site            437
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q15067.3)"
     Site            446
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9R0H0; propagated from
                     UniProtKB/Swiss-Prot (Q15067.3)"
     Site            468..469
                     /site_type="cleavage"
                     /note="Cleavage. /evidence=ECO:0000250|UniProtKB:P07872;
                     propagated from UniProtKB/Swiss-Prot (Q15067.3)"
     Site            500
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q15067.3)"
     Site            504
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q15067.3)"
     Site            512
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9R0H0; propagated from
                     UniProtKB/Swiss-Prot (Q15067.3)"
     Site            637
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9R0H0; propagated from
                     UniProtKB/Swiss-Prot (Q15067.3)"
     Site            649
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0H0; propagated from
                     UniProtKB/Swiss-Prot (Q15067.3)"
     Site            651
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0H0; propagated from
                     UniProtKB/Swiss-Prot (Q15067.3)"
     Region          658..660
                     /region_name="Microbody targeting signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15067.3)"
     CDS             1..660
                     /gene="ACOX1"
                     /gene_synonym="ACOX; AOX; MITCH; PALMCOX; SCOX"
                     /coded_by="NM_007292.6:94..2076"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS11735.1"
                     /db_xref="GeneID:51"
                     /db_xref="HGNC:HGNC:119"
                     /db_xref="MIM:609751"
ORIGIN      
        1 mnpdlrrerd sasfnpellt hildgspekt rrrreienmi lndpdfqhed lnfltrsqry
       61 evavrksaim vkkmrefgia dpdeimwfkk lhlvnfvepv glnysmfipt llnqgttaqk
      121 ekwllsskgl qiigtyaqte mghgthlrgl ettatydpet qefilnsptv tsikwwpggl
      181 gktsnhaivl aqlitkgkcy glhafivpir eigthkplpg itvgdigpkf gydeidngyl
      241 kmdnhripre nmlmkyaqvk pdgtyvkpls nkltygtmvf vrsflvgeaa ralskactia
      301 irysavrhqs eikpgepepq ildfqtqqyk lfpllataya fqfvgaymke tyhrinegig
      361 qgdlselpel haltaglkaf tswtantgie acrmacgghg yshcsglpni yvnftpsctf
      421 egentvmmlq tarflmksyd qvhsgklvcg mvsylndlps qriqpqqvav wptmvdinsp
      481 eslteayklr aarlveiaak nlqkevihrk skevawnlts vdlvraseah chyvvvklfs
      541 ekllkiqdka iqavlrslcl lyslygisqn agdflqgsim tepqitqvnq rvkelltlir
      601 sdavalvdaf dfqdvtlgsv lgrydgnvye nlfewaknsp lnkaevhesy khlkslqskl
//
LOCUS       NP_001292474             656 aa            linear   PRI 16-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF43 isoform 2 [Homo sapiens].
ACCESSION   NP_001292474
VERSION     NP_001292474.1
DBSOURCE    REFSEQ: accession NM_001305545.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 656)
  AUTHORS   Zhu L, Shi H, Li P and Zhang P.
  TITLE     RNF43 Suppressed Triple-Negative Breast Cancer Progression by
            Inhibiting Wnt/beta-Catenin Pathway
  JOURNAL   Ann Clin Lab Sci 53 (1), 21-29 (2023)
   PUBMED   36889779
  REMARK    GeneRIF: RNF43 Suppressed Triple-Negative Breast Cancer Progression
            by Inhibiting Wnt/beta-Catenin Pathway.
REFERENCE   2  (residues 1 to 656)
  AUTHORS   Elez E, Ros J, Fernandez J, Villacampa G, Moreno-Cardenas AB,
            Arenillas C, Bernatowicz K, Comas R, Li S, Kodack DP, Fasani R,
            Garcia A, Gonzalo-Ruiz J, Piris-Gimenez A, Nuciforo P, Kerr G,
            Intini R, Montagna A, Germani MM, Randon G, Vivancos A, Smits R,
            Graus D, Perez-Lopez R, Cremolini C, Lonardi S, Pietrantonio F,
            Dienstmann R, Tabernero J and Toledo RA.
  TITLE     RNF43 mutations predict response to anti-BRAF/EGFR combinatory
            therapies in BRAFV600E metastatic colorectal cancer
  JOURNAL   Nat Med 28 (10), 2162-2170 (2022)
   PUBMED   36097219
  REMARK    GeneRIF: RNF43 mutations predict response to anti-BRAF/EGFR
            combinatory therapies in BRAF(V600E) metastatic colorectal cancer.
REFERENCE   3  (residues 1 to 656)
  AUTHORS   Siraj AK, Bu R, Masoodi T, Parvathareddy SK, Iqbal K, Al-Haqawi W,
            Al-Dossari H, Azam S, Qadri Z, Annaiyappanaidu P, Al-Dayel F and
            Al-Kuraya KS.
  TITLE     Exome sequencing revealed comparable frequencies of RNF43 and BRAF
            mutations in Middle Eastern colorectal cancer
  JOURNAL   Sci Rep 12 (1), 13098 (2022)
   PUBMED   35907983
  REMARK    GeneRIF: Exome sequencing revealed comparable frequencies of RNF43
            and BRAF mutations in Middle Eastern colorectal cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 656)
  AUTHORS   Fang L, Ford-Roshon D, Russo M, O'Brien C, Xiong X, Gurjao C,
            Grandclaudon M, Raghavan S, Corsello SM, Carr SA, Udeshi ND,
            Berstler J, Sicinska E, Ng K and Giannakis M.
  TITLE     RNF43 G659fs is an oncogenic colorectal cancer mutation and
            sensitizes tumor cells to PI3K/mTOR inhibition
  JOURNAL   Nat Commun 13 (1), 3181 (2022)
   PUBMED   35676246
  REMARK    GeneRIF: RNF43 G659fs is an oncogenic colorectal cancer mutation
            and sensitizes tumor cells to PI3K/mTOR inhibition.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 656)
  AUTHORS   Koo BK, Spit M, Jordens I, Low TY, Stange DE, van de Wetering M,
            van Es JH, Mohammed S, Heck AJ, Maurice MM and Clevers H.
  TITLE     Tumour suppressor RNF43 is a stem-cell E3 ligase that induces
            endocytosis of Wnt receptors
  JOURNAL   Nature 488 (7413), 665-669 (2012)
   PUBMED   22895187
  REMARK    GeneRIF: RNF43 and ZNRF3 reduce Wnt signals by selectively
            ubiquitinating frizzled receptors, thereby targeting these Wnt
            receptors for degradation
REFERENCE   6  (residues 1 to 656)
  AUTHORS   Low SK, Kuchiba A, Zembutsu H, Saito A, Takahashi A, Kubo M, Daigo
            Y, Kamatani N, Chiku S, Totsuka H, Ohnami S, Hirose H, Shimada K,
            Okusaka T, Yoshida T, Nakamura Y and Sakamoto H.
  TITLE     Genome-wide association study of pancreatic cancer in Japanese
            population
  JOURNAL   PLoS One 5 (7), e11824 (2010)
   PUBMED   20686608
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 656)
  AUTHORS   van Wijk SJ, de Vries SJ, Kemmeren P, Huang A, Boelens R, Bonvin AM
            and Timmers HT.
  TITLE     A comprehensive framework of E2-RING E3 interactions of the human
            ubiquitin-proteasome system
  JOURNAL   Mol Syst Biol 5, 295 (2009)
   PUBMED   19690564
  REMARK    Erratum:[Mol Syst Biol. 2009;5:317]
REFERENCE   8  (residues 1 to 656)
  AUTHORS   Sugiura T, Yamaguchi A and Miyamoto K.
  TITLE     A cancer-associated RING finger protein, RNF43, is a ubiquitin
            ligase that interacts with a nuclear protein, HAP95
  JOURNAL   Exp Cell Res 314 (7), 1519-1528 (2008)
   PUBMED   18313049
  REMARK    GeneRIF: These results infer that RNF43 is a resident protein of
            the ER and, at least partially, the nuclear membrane, with
            ubiquitin ligase activity and may be involved in cell growth
            control potentially through the interaction with HAP95.
REFERENCE   9  (residues 1 to 656)
  AUTHORS   Uchida N, Tsunoda T, Wada S, Furukawa Y, Nakamura Y and Tahara H.
  TITLE     Ring finger protein 43 as a new target for cancer immunotherapy
  JOURNAL   Clin Cancer Res 10 (24), 8577-8586 (2004)
   PUBMED   15623641
REFERENCE   10 (residues 1 to 656)
  AUTHORS   Yagyu R, Furukawa Y, Lin YM, Shimokawa T, Yamamura T and Nakamura
            Y.
  TITLE     A novel oncoprotein RNF43 functions in an autocrine manner in
            colorectal cancer
  JOURNAL   Int J Oncol 25 (5), 1343-1348 (2004)
   PUBMED   15492824
  REMARK    GeneRIF: RNF43 may exert its growth promoting effect in an
            antocrine manner and may be a novel diagnostic marker for
            colorectal cancer
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK299024.1, BC109028.2,
            AK000322.1, AB081837.1 and AC004687.2.
            
            Summary: The protein encoded by this gene is a RING-type E3
            ubiquitin ligase and is predicted to contain a transmembrane
            domain, a protease-associated domain, an ectodomain, and a
            cytoplasmic RING domain. This protein is thought to negatively
            regulate Wnt signaling, and expression of this gene results in an
            increase in ubiquitination of frizzled receptors, an alteration in
            their subcellular distribution, resulting in reduced surface levels
            of these receptors. Mutations in this gene have been reported in
            multiple tumor cells, including colorectal and endometrial cancers.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Mar 2015].
            
            Transcript Variant: This variant (3) has multiple differences,
            compared to variant 1. These differences result in a distinct 5'
            UTR and cause translation initiation at a downstream start codon,
            compared to variant 1. The encoded protein (isoform 2) has a
            shorter N-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK299024.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..656
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q22"
     Protein         1..656
                     /product="E3 ubiquitin-protein ligase RNF43 isoform 2"
                     /EC_number="2.3.2.27"
                     /note="E3 ubiquitin-protein ligase RNF43; RING-type E3
                     ubiquitin transferase RNF43"
                     /calculated_mol_wt=71975
     Region          <1..60
                     /region_name="ZNRF_3_ecto"
                     /note="ZNRF-3 Ectodomain; pfam18212"
                     /db_xref="CDD:408039"
     Region          140..192
                     /region_name="RING-H2_RNF43"
                     /note="RING finger, H2 subclass, found in RING finger
                     protein 43 (RNF43) and similar proteins; cd16798"
                     /db_xref="CDD:438451"
     Region          185..>542
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          <443..620
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..656
                     /gene="RNF43"
                     /gene_synonym="RNF124; SSPCS; URCC"
                     /coded_by="NM_001305545.1:212..2182"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS82172.1"
                     /db_xref="GeneID:54894"
                     /db_xref="HGNC:HGNC:18505"
                     /db_xref="MIM:612482"
ORIGIN      
        1 magergasav lfditedraa aeqlqqplgl twpvvliwgn daeklmefvy knqkahvrie
       61 lkeppawpdy dvwilmtvvg tifviilasv lrircrprhs rpdplqqrta waisqlatrr
      121 yqascrqarg ewpdsgsscs sapvcaicle efsegqelrv isclhefhrn cvdpwlhqhr
      181 tcplcmfnit egdsfsqslg psrsyqepgr rlhlirqhpg hahyhlpaay llgpsrsava
      241 rpprpgpflp sqepgmgprh hrfpraahpr apgeqqrlag aqhpyaqgwg lshlqstsqh
      301 paacpvplrr arppdssgsg esyctersgy ladgpasdss sgpchgsssd svvnctdisl
      361 qgvhgssstf csslssdfdp lvycspkgdp qrvdmqpsvt srprsldsvv ptgetqvssh
      421 vhyhrhrhhh ykkrfqwhgr kpgpetgvpq srppiprtqp qpeppspdqq vtrsnsaaps
      481 grlsnpqcpr alpepapgpv dassicpsts slfnlqkssl sarhpqrkrr ggpseptpgs
      541 rpqdatvhpa cqifphytps vaypwspeah plicgppgld krllpetpgp cysnsqpvwl
      601 cltprqplep hppgegpsew ssdtaegrpc pyphcqvlsa qpgseeelee lceqav
//
LOCUS       NP_001230056             814 aa            linear   PRI 16-MAR-2023
DEFINITION  phosphofurin acidic cluster sorting protein 2 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001230056
VERSION     NP_001230056.1
DBSOURCE    REFSEQ: accession NM_001243127.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 814)
  AUTHORS   Mei R, Wu M and Ren F.
  TITLE     Knockdown of circ_0002194 protects against oxidized low-density
            lipoprotein-induced cell damage via the regulation of the
            miR-637/PACS2 axis in human vascular endothelial cells
  JOURNAL   Interact Cardiovasc Thorac Surg 35 (4) (2022)
   PUBMED   35951762
  REMARK    GeneRIF: Knockdown of circ_0002194 protects against oxidized
            low-density lipoprotein-induced cell damage via the regulation of
            the miR-637/PACS2 axis in human vascular endothelial cells.
REFERENCE   2  (residues 1 to 814)
  AUTHORS   Sorokina EA, Reis LM, Thompson S, Agre K, Babovic-Vuksanovic D,
            Ellingson MS, Hasadsri L, van Bever Y and Semina EV.
  TITLE     WDR37 syndrome: identification of a distinct new cluster of
            disease-associated variants and functional analyses of mutant
            proteins
  JOURNAL   Hum Genet 140 (12), 1775-1789 (2021)
   PUBMED   34642815
REFERENCE   3  (residues 1 to 814)
  AUTHORS   Wu MJ, Hu CH, Ma JH, Hu JS, Liu ZS and Sun D.
  TITLE     [Early infantile epileptic encephalopathy caused by PACS2 gene
            variation: three cases report and literature review]
  JOURNAL   Zhonghua Er Ke Za Zhi 59 (7), 594-599 (2021)
   PUBMED   34405643
  REMARK    GeneRIF: [Early infantile epileptic encephalopathy caused by PACS2
            gene variation: three cases report and literature review].
            Review article
REFERENCE   4  (residues 1 to 814)
  AUTHORS   Sakaguchi Y, Yoshihashi H, Uehara T, Miyama S, Kosaki K and
            Takenouchi T.
  TITLE     Coloboma may be a shared feature in a spectrum of disorders caused
            by mutations in the WDR37-PACS1-PACS2 axis
  JOURNAL   Am J Med Genet A 185 (3), 884-888 (2021)
   PUBMED   33369122
  REMARK    GeneRIF: Coloboma may be a shared feature in a spectrum of
            disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
            Review article
REFERENCE   5  (residues 1 to 814)
  AUTHORS   Mizuno T, Miyata R, Hojo A, Tamura Y, Nakashima M, Mizuguchi T,
            Matsumoto N and Kato M.
  TITLE     Clinical variations of epileptic syndrome associated with PACS2
            variant
  JOURNAL   Brain Dev 43 (2), 343-347 (2021)
   PUBMED   33243487
  REMARK    GeneRIF: Clinical variations of epileptic syndrome associated with
            PACS2 variant.
REFERENCE   6  (residues 1 to 814)
  AUTHORS   Aslan JE, You H, Williamson DM, Endig J, Youker RT, Thomas L, Shu
            H, Du Y, Milewski RL, Brush MH, Possemato A, Sprott K, Fu H, Greis
            KD, Runckel DN, Vogel A and Thomas G.
  TITLE     Akt and 14-3-3 control a PACS-2 homeostatic switch that integrates
            membrane traffic with TRAIL-induced apoptosis
  JOURNAL   Mol Cell 34 (4), 497-509 (2009)
   PUBMED   19481529
  REMARK    GeneRIF: Results identify PACS-2 as an essential TRAIL effector,
            and show that Akt cooperates with 14-3-3 to regulate the
            homeostatic and apoptotic properties of PACS-2 that mediate TRAIL
            action.
REFERENCE   7  (residues 1 to 814)
  AUTHORS   Myhill N, Lynes EM, Nanji JA, Blagoveshchenskaya AD, Fei H, Carmine
            Simmen K, Cooper TJ, Thomas G and Simmen T.
  TITLE     The subcellular distribution of calnexin is mediated by PACS-2
  JOURNAL   Mol Biol Cell 19 (7), 2777-2788 (2008)
   PUBMED   18417615
  REMARK    GeneRIF: the phosphorylation state of the calnexin cytosolic domain
            and its interaction with PACS-2 sort the chaperone between domains
            of the ER and the plasma membrane
REFERENCE   8  (residues 1 to 814)
  AUTHORS   Atkins KM, Thomas L, Youker RT, Harriff MJ, Pissani F, You H and
            Thomas G.
  TITLE     HIV-1 Nef binds PACS-2 to assemble a multikinase cascade that
            triggers major histocompatibility complex class I (MHC-I)
            down-regulation: analysis using short interfering RNA and knock-out
            mice
  JOURNAL   J Biol Chem 283 (17), 11772-11784 (2008)
   PUBMED   18296443
  REMARK    GeneRIF: PACS-2 is required for Nef action and sorting of itinerant
            membrane cargo in the TGN/endosomal system
REFERENCE   9  (residues 1 to 814)
  AUTHORS   Simmen T, Aslan JE, Blagoveshchenskaya AD, Thomas L, Wan L, Xiang
            Y, Feliciangeli SF, Hung CH, Crump CM and Thomas G.
  TITLE     PACS-2 controls endoplasmic reticulum-mitochondria communication
            and Bid-mediated apoptosis
  JOURNAL   EMBO J 24 (4), 717-729 (2005)
   PUBMED   15692567
  REMARK    GeneRIF: PACS-2 as a novel sorting protein that links the
            endoplasmic reticulum (ER)-mitochondria axis to ER homeostasis
            Erratum:[EMBO J. 2005 Mar 23;24(6):1301]
REFERENCE   10 (residues 1 to 814)
  AUTHORS   Kottgen M, Benzing T, Simmen T, Tauber R, Buchholz B, Feliciangeli
            S, Huber TB, Schermer B, Kramer-Zucker A, Hopker K, Simmen KC,
            Tschucke CC, Sandford R, Kim E, Thomas G and Walz G.
  TITLE     Trafficking of TRPP2 by PACS proteins represents a novel mechanism
            of ion channel regulation
  JOURNAL   EMBO J 24 (4), 705-716 (2005)
   PUBMED   15692563
  REMARK    GeneRIF: subcellular localization and function of polycystin-2 are
            directed by phosphofurin acidic cluster sorting protein (PACS)-1
            and PACS-2
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL512355.6, HY009105.1, BC131591.1, BC065220.1, DA408379.1,
            DA177001.1, AK098354.1 and CA423467.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
            portion of the 5' coding region, uses a downstream in-frame start
            codon, uses an alternate in-frame splice site in the central coding
            region, and lacks an alternate in-frame exon in the 3' coding
            region, compared to variant 1. The encoded isoform (3) is shorter
            at the N-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC131591.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..814
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.33"
     Protein         1..814
                     /product="phosphofurin acidic cluster sorting protein 2
                     isoform 3"
                     /note="PACS1-like protein"
                     /calculated_mol_wt=89478
     Region          398..810
                     /region_name="Pacs-1"
                     /note="PACS-1 cytosolic sorting protein; pfam10254"
                     /db_xref="CDD:431174"
     CDS             1..814
                     /gene="PACS2"
                     /gene_synonym="DEE66; EIEE66; PACS-2; PACS1L"
                     /coded_by="NM_001243127.3:289..2733"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS58339.1"
                     /db_xref="GeneID:23241"
                     /db_xref="HGNC:HGNC:23794"
                     /db_xref="MIM:610423"
ORIGIN      
        1 mqgskrilrs heivlppsgq vetdlaltfs lqyphflkre gnklqimlqr rkryknrtil
       61 gyktlaagsi smaevmqhps eggqvlslcs sikeapvkaa eiwiaslssq pidhedstmq
      121 agpkakstdn yseeeyesfs seqeasddav qgqdldeddf dvgkpkkqrr siqqnfkqkv
      181 vallrrfkvs devldseqdp aehipeaeed ldllydtldm ehpsdsgpdm edddsvlstp
      241 kpklrpyfeg lshsssqtei gsihsarshk eppspadvpe ktrslggrqp sdsvsdtval
      301 gvpgprehpg qpedspeaea stldvfterl ppsgritkte slvipstrse gkqagrrgrs
      361 tslkerqaar pqneransld nercpdarsq lqiprktvyd qlnhilisdd qlpeniilvn
      421 tsdwqgqfls dvlqrhtlpv vctcspadvq aafstivsri qrycncnsqp ptpvkiavag
      481 aqhylsailr lfveqlshkt pdwlgymrfl viplgshpva rylgsvdyry nnffqdlawr
      541 dlfnkleaqs avqdtpdivs ritqyiagan cahqlpiaea mltykqkspd eessqkfipf
      601 vgvvkvgive pssatsgdsd daapsgsgtl sstppsaspa akeasptpps spsvsgglss
      661 psqgvgaelm glqvdywtaa qpadrkrdae kkdlpvtknt lkctfrslqv srlpssgeaa
      721 atptmsmtvv tkeknkkvmf lpkkakdkdv esksqciegi srlictarqq qnmlrvlidg
      781 vecsdvkffq laaqwsshvk hfpicifghs katf
//
LOCUS       NP_001362411            1042 aa            linear   PRI 17-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase HERC3 isoform 5 [Homo
            sapiens].
ACCESSION   NP_001362411
VERSION     NP_001362411.1
DBSOURCE    REFSEQ: accession NM_001375482.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1042)
  AUTHORS   Yuan B, Liu J, Shi A, Cao J, Yu Y, Zhu Y, Zhang C, Qiu Y, Luo H,
            Shi J, Cao X, Xu P, Shen L, Liang T, Zhao B and Feng XH.
  TITLE     HERC3 promotes YAP/TAZ stability and tumorigenesis independently of
            its ubiquitin ligase activity
  JOURNAL   EMBO J 42 (4), e111549 (2023)
   PUBMED   36598329
  REMARK    GeneRIF: HERC3 promotes YAP/TAZ stability and tumorigenesis
            independently of its ubiquitin ligase activity.
REFERENCE   2  (residues 1 to 1042)
  AUTHORS   Zhang Z, Wu Q, Fang M, Liu Y, Jiang J, Feng Q, Hu R and Xu J.
  TITLE     HERC3 directly targets RPL23A for ubiquitination degradation and
            further regulates Colorectal Cancer proliferation and the cell
            cycle
  JOURNAL   Int J Biol Sci 18 (8), 3282-3297 (2022)
   PUBMED   35637966
  REMARK    GeneRIF: HERC3 directly targets RPL23A for ubiquitination
            degradation and further regulates Colorectal Cancer proliferation
            and the cell cycle.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1042)
  AUTHORS   Zhang Z, He G, Lv Y, Liu Y, Niu Z, Feng Q, Hu R and Xu J.
  TITLE     HERC3 regulates epithelial-mesenchymal transition by directly
            ubiquitination degradation EIF5A2 and inhibits metastasis of
            colorectal cancer
  JOURNAL   Cell Death Dis 13 (1), 74 (2022)
   PUBMED   35064108
  REMARK    GeneRIF: HERC3 regulates epithelial-mesenchymal transition by
            directly ubiquitination degradation EIF5A2 and inhibits metastasis
            of colorectal cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1042)
  AUTHORS   Li H, Li J, Chen L, Qi S, Yu S, Weng Z, Hu Z, Zhou Q, Xin Z, Shi L,
            Ma L, Huang A and Lu Y.
  TITLE     HERC3-Mediated SMAD7 Ubiquitination Degradation Promotes
            Autophagy-Induced EMT and Chemoresistance in Glioblastoma
  JOURNAL   Clin Cancer Res 25 (12), 3602-3616 (2019)
   PUBMED   30862693
  REMARK    GeneRIF: The increased expression of HERC3 in glioblastoma
            associated with poor clinical outcome. In experimental models,
            autophagy inducers upregulated HERC3.
REFERENCE   5  (residues 1 to 1042)
  AUTHORS   Chen Y, Li Y, Peng Y, Zheng X, Fan S, Yi Y, Zeng P, Chen H, Kang H,
            Zhang Y, Xiao ZX and Li C.
  TITLE     DeltaNp63alpha down-regulates c-Myc modulator MM1 via E3 ligase
            HERC3 in the regulation of cell senescence
  JOURNAL   Cell Death Differ 25 (12), 2118-2129 (2018)
   PUBMED   29880857
  REMARK    GeneRIF: The data illuminate a novel axis regulating cell
            senescence: DeltaNp63alpha stimulates transcription of E3 ligase
            HERC3, which mediates ubiquitination of c-Myc modulator MM1 and
            targets it to proteasomal degradation; subsequently, c-Myc is
            derepressed by DeltaNp63alpha, thereby cell senescence is modulated
            by this axis.
REFERENCE   6  (residues 1 to 1042)
  AUTHORS   Hochrainer K, Pejanovic N, Olaseun VA, Zhang S, Iadecola C and
            Anrather J.
  TITLE     The ubiquitin ligase HERC3 attenuates NF-kappaB-dependent
            transcription independently of its enzymatic activity by delivering
            the RelA subunit for degradation
  JOURNAL   Nucleic Acids Res 43 (20), 9889-9904 (2015)
   PUBMED   26476452
  REMARK    GeneRIF: HERC3 negatively regulates NF-kappaB signaling by
            enhancing RelA subunit degradation.
REFERENCE   7  (residues 1 to 1042)
  AUTHORS   Yoo,N.J., Park,S.W. and Lee,S.H.
  TITLE     Frameshift mutations of ubiquitination-related genes HERC2, HERC3,
            TRIP12, UBE2Q1 and UBE4B in gastric and colorectal carcinomas with
            microsatellite instability
  JOURNAL   Pathology 43 (7), 753-755 (2011)
   PUBMED   22124266
  REMARK    GeneRIF: we found somatic mutations of HERC2, HERC3, TRIP12, UBE2Q1
            and UBE4B genes in gastric carcinoma and colorectal carcinomas with
            microsatellite instability
REFERENCE   8  (residues 1 to 1042)
  AUTHORS   Hochrainer K, Mayer H, Baranyi U, Binder B, Lipp J and Kroismayr R.
  TITLE     The human HERC family of ubiquitin ligases: novel members, genomic
            organization, expression profiling, and evolutionary aspects
  JOURNAL   Genomics 85 (2), 153-164 (2005)
   PUBMED   15676274
REFERENCE   9  (residues 1 to 1042)
  AUTHORS   Cruz C, Ventura F, Bartrons R and Rosa JL.
  TITLE     HERC3 binding to and regulation by ubiquitin
  JOURNAL   FEBS Lett 488 (1-2), 74-80 (2001)
   PUBMED   11163799
REFERENCE   10 (residues 1 to 1042)
  AUTHORS   Cruz C, Nadal M, Ventura F, Bartrons R, Estivill X and Rosa JL.
  TITLE     The human HERC3 gene maps to chromosome 4q21 by fluorescence in
            situ hybridization
  JOURNAL   Cytogenet Cell Genet 87 (3-4), 263-264 (1999)
   PUBMED   10702688
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC083829.5, AC098582.2 and
            AC108065.3.
            
            Summary: This gene encodes a member the HERC ubiquitin ligase
            family. The encoded protein is located in the cytosol and binds
            ubiquitin via a HECT domain. Mutations in this gene have been
            associated with colorectal and gastric carcinomas. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, Oct 2012].
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803613.90523.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2157437, SAMN03465403 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1042
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q22.1"
     Protein         1..1042
                     /product="probable E3 ubiquitin-protein ligase HERC3
                     isoform 5"
                     /EC_number="2.3.2.26"
                     /note="probable E3 ubiquitin-protein ligase HERC3; HECT
                     domain and RCC1-like domain-containing protein 3; hect
                     domain and RLD 3; HECT-type E3 ubiquitin transferase
                     HERC3"
                     /calculated_mol_wt=116164
     Region          1..51
                     /region_name="RCC1 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15034.1)"
     Region          2..331
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          52..101
                     /region_name="RCC1 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15034.1)"
     Region          102..154
                     /region_name="RCC1 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15034.1)"
     Region          156..207
                     /region_name="RCC1 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15034.1)"
     Region          208..259
                     /region_name="RCC1 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15034.1)"
     Region          261..311
                     /region_name="RCC1 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15034.1)"
     Region          313..377
                     /region_name="RCC1"
                     /note="Regulator of chromosome condensation (RCC1) repeat;
                     pfam00415"
                     /db_xref="CDD:395335"
     Region          313..366
                     /region_name="RCC1 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15034.1)"
     Region          694..1040
                     /region_name="HECTc"
                     /note="HECT domain; C-terminal catalytic domain of a
                     subclass of Ubiquitin-protein ligase (E3). It binds
                     specific ubiquitin-conjugating enzymes (E2), accepts
                     ubiquitin from E2, transfers ubiquitin to substrate lysine
                     side chains, and transfers additional...; cd00078"
                     /db_xref="CDD:238033"
     Site            order(700,730,741,798,975,1004..1005,1008..1012,1032,1039)
                     /site_type="active"
                     /note="catalytic cleft [active]"
                     /db_xref="CDD:238033"
     Site            order(826,829..830,832..833,836,845,847,851..852,859,864,
                     881,885)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..1042
                     /gene="HERC3"
                     /coded_by="NM_001375482.1:178..3306"
                     /note="isoform 5 is encoded by transcript variant 9"
                     /db_xref="GeneID:8916"
                     /db_xref="HGNC:HGNC:4876"
                     /db_xref="MIM:605200"
ORIGIN      
        1 mlcwgywslg qpgistnlqg ivaepqvcgf isdrsvkeva cggnhsvfll edgevytcgl
       61 ntkgqlgher egnkpeqiga ladqhiihva cgeshslals drgqlfswga gsdgqlglmt
      121 tedsvavprl iqklnqqtil qvscgnwhcl alaadgqfft wgknshgqlg lgkefpsqas
      181 pqrvrslegi plaqvaagga hsfalslsga vfgwgmnnag qlglsdekdr espchvkllr
      241 tqkvvyiscg eehtavltks ggvftfgags cgqlghdsmn devnprrvle lmgsevtqia
      301 cgrqhtlafv pssgliyafg cgargqlgtg htcnvkcpsp vkgywaahsg qlsaradrfk
      361 yhivkqifsg gdqtfvlcsk yenyspavdf rtmnqahyts lindetiavw rqklsehnna
      421 ntingvvqil ssaacwngsf lekkidehfk tspkipgidl nstrvlfekl mnsqhsmile
      481 qilnsfescl ipqlsssppd veamriylil pefpllqdsk yyitltipla mailrldtnp
      541 skvldnwwsq vcpkyfmklv nlykgavlyl lrgrktflip vlfnnyitaa lklleklykv
      601 nlkvkhveyd tfyipeisnl vdiqedylmw flhqagmdtv tlcsypfifd aqaktkmlqt
      661 daelqmqvav nganlqnvfm lltlepllar spflvlhvrr nnlvgdalre lsihsdidlk
      721 kplkvifdge eavdaggvtk effllllkel lnpiygmfty yqdsnllwfs dtcfvehnwf
      781 hligitcgla iynstvvdlh fplalykkll nvkpgledlk elsptegrsl qelldypged
      841 veetfclnft icresygvie qkklipggdn vtvckdnrqe fvdayvnyvf qisvhewyta
      901 fssgflkvcg gkvlelfqps elrammvgns nynweeleet aiykgdysat hptvklfwet
      961 fhefplekkk kfllfltgsd ripiygmasl qiviqstasg eeylpvahtc ynlldlpkys
     1021 skeilsarlt qaldnyegfs la
//
LOCUS       NP_958785               4551 aa            linear   PRI 18-MAR-2023
DEFINITION  plectin isoform 1g [Homo sapiens].
ACCESSION   NP_958785
VERSION     NP_958785.1
DBSOURCE    REFSEQ: accession NM_201383.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 4551)
  AUTHORS   Rezniczek GA, Walko G and Wiche G.
  TITLE     Plectin gene defects lead to various forms of epidermolysis bullosa
            simplex
  JOURNAL   Dermatol Clin 28 (1), 33-41 (2010)
   PUBMED   19945614
  REMARK    Review article
            Erratum:[Dermatol Clin. 2010 Apr;28(2):439-41]
REFERENCE   2  (residues 1 to 4551)
  AUTHORS   Winter L, Abrahamsberg C and Wiche G.
  TITLE     Plectin isoform 1b mediates mitochondrion-intermediate filament
            network linkage and controls organelle shape
  JOURNAL   J Cell Biol 181 (6), 903-911 (2008)
   PUBMED   18541706
REFERENCE   3  (residues 1 to 4551)
  AUTHORS   Sonnenberg A and Liem RK.
  TITLE     Plakins in development and disease
  JOURNAL   Exp Cell Res 313 (10), 2189-2203 (2007)
   PUBMED   17499243
  REMARK    Review article
REFERENCE   4  (residues 1 to 4551)
  AUTHORS   Rezniczek GA, Konieczny P, Nikolic B, Reipert S, Schneller D,
            Abrahamsberg C, Davies KE, Winder SJ and Wiche G.
  TITLE     Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle
            fibers through multiple interactions with beta-dystroglycan
  JOURNAL   J Cell Biol 176 (7), 965-977 (2007)
   PUBMED   17389230
REFERENCE   5  (residues 1 to 4551)
  AUTHORS   Pfendner E, Rouan F and Uitto J.
  TITLE     Progress in epidermolysis bullosa: the phenotypic spectrum of
            plectin mutations
  JOURNAL   Exp Dermatol 14 (4), 241-249 (2005)
   PUBMED   15810881
  REMARK    GeneRIF: discussion of phenotypic spectrum of plectin mutations
            [review]
            Review article
REFERENCE   6  (residues 1 to 4551)
  AUTHORS   Zhang T, Haws P and Wu Q.
  TITLE     Multiple variable first exons: a mechanism for cell- and
            tissue-specific gene regulation
  JOURNAL   Genome Res 14 (1), 79-89 (2004)
   PUBMED   14672974
REFERENCE   7  (residues 1 to 4551)
  AUTHORS   Rezniczek GA, Abrahamsberg C, Fuchs P, Spazierer D and Wiche G.
  TITLE     Plectin 5'-transcript diversity: short alternative sequences
            determine stability of gene products, initiation of translation and
            subcellular localization of isoforms
  JOURNAL   Hum Mol Genet 12 (23), 3181-3194 (2003)
   PUBMED   14559777
REFERENCE   8  (residues 1 to 4551)
  AUTHORS   Andra K, Kornacker I, Jorgl A, Zorer M, Spazierer D, Fuchs P,
            Fischer I and Wiche G.
  TITLE     Plectin-isoform-specific rescue of hemidesmosomal defects in
            plectin (-/-) keratinocytes
  JOURNAL   J Invest Dermatol 120 (2), 189-197 (2003)
   PUBMED   12542521
REFERENCE   9  (residues 1 to 4551)
  AUTHORS   Leung CL, Green KJ and Liem RK.
  TITLE     Plakins: a family of versatile cytolinker proteins
  JOURNAL   Trends Cell Biol 12 (1), 37-45 (2002)
   PUBMED   11854008
  REMARK    Review article
REFERENCE   10 (residues 1 to 4551)
  AUTHORS   Brown MJ, Hallam JA, Liu Y, Yamada KM and Shaw S.
  TITLE     Cutting edge: integration of human T lymphocyte cytoskeleton by the
            cytolinker plectin
  JOURNAL   J Immunol 167 (2), 641-645 (2001)
   PUBMED   11441066
  REMARK    GeneRIF: During polarization of peripheral blood T lymphocytes,
            plectin redistributes to the uropod associated with vimentin and
            fodrin. This vimentin-plectin-fodrin complex provides a continuous
            linkage from the nucleus (lamin B) to the cortical cytoskeleton.
REFERENCE   11 (residues 1 to 4551)
  AUTHORS   Schroder R, Furst DO, Klasen C, Reimann J, Herrmann H and van der
            Ven PF.
  TITLE     Association of plectin with Z-discs is a prerequisite for the
            formation of the intermyofibrillar desmin cytoskeleton
  JOURNAL   Lab Invest 80 (4), 455-464 (2000)
   PUBMED   10780662
REFERENCE   12 (residues 1 to 4551)
  AUTHORS   Fuchs P, Zorer M, Rezniczek GA, Spazierer D, Oehler S, Castanon MJ,
            Hauptmann R and Wiche G.
  TITLE     Unusual 5' transcript complexity of plectin isoforms: novel
            tissue-specific exons modulate actin binding activity
  JOURNAL   Hum Mol Genet 8 (13), 2461-2472 (1999)
   PUBMED   10556294
REFERENCE   13 (residues 1 to 4551)
  AUTHORS   Wiche G.
  TITLE     Role of plectin in cytoskeleton organization and dynamics
  JOURNAL   J Cell Sci 111 (Pt 17), 2477-2486 (1998)
   PUBMED   9701547
  REMARK    Review article
REFERENCE   14 (residues 1 to 4551)
  AUTHORS   Elliott CE, Becker B, Oehler S, Castanon MJ, Hauptmann R and Wiche
            G.
  TITLE     Plectin transcript diversity: identification and tissue
            distribution of variants with distinct first coding exons and
            rodless isoforms
  JOURNAL   Genomics 42 (1), 115-125 (1997)
   PUBMED   9177781
REFERENCE   15 (residues 1 to 4551)
  AUTHORS   Chavanas S, Pulkkinen L, Gache Y, Smith FJ, McLean WH, Uitto J,
            Ortonne JP and Meneguzzi G.
  TITLE     A homozygous nonsense mutation in the PLEC1 gene in patients with
            epidermolysis bullosa simplex with muscular dystrophy
  JOURNAL   J Clin Invest 98 (10), 2196-2200 (1996)
   PUBMED   8941634
REFERENCE   16 (residues 1 to 4551)
  AUTHORS   Pulkkinen L, Smith FJ, Shimizu H, Murata S, Yaoita H, Hachisuka H,
            Nishikawa T, McLean WH and Uitto J.
  TITLE     Homozygous deletion mutations in the plectin gene (PLEC1) in
            patients with epidermolysis bullosa simplex associated with
            late-onset muscular dystrophy
  JOURNAL   Hum Mol Genet 5 (10), 1539-1546 (1996)
   PUBMED   8894687
REFERENCE   17 (residues 1 to 4551)
  AUTHORS   Smith FJ, Eady RA, Leigh IM, McMillan JR, Rugg EL, Kelsell DP,
            Bryant SP, Spurr NK, Geddes JF, Kirtschig G, Milana G, de Bono AG,
            Owaribe K, Wiche G, Pulkkinen L, Uitto J, McLean WH and Lane EB.
  TITLE     Plectin deficiency results in muscular dystrophy with epidermolysis
            bullosa
  JOURNAL   Nat Genet 13 (4), 450-457 (1996)
   PUBMED   8696340
REFERENCE   18 (residues 1 to 4551)
  AUTHORS   McLean WH, Pulkkinen L, Smith FJ, Rugg EL, Lane EB, Bullrich F,
            Burgeson RE, Amano S, Hudson DL, Owaribe K, McGrath JA, McMillan
            JR, Eady RA, Leigh IM, Christiano AM and Uitto J.
  TITLE     Loss of plectin causes epidermolysis bullosa with muscular
            dystrophy: cDNA cloning and genomic organization
  JOURNAL   Genes Dev 10 (14), 1724-1735 (1996)
   PUBMED   8698233
REFERENCE   19 (residues 1 to 4551)
  AUTHORS   Gache Y, Chavanas S, Lacour JP, Wiche G, Owaribe K, Meneguzzi G and
            Ortonne JP.
  TITLE     Defective expression of plectin/HD1 in epidermolysis bullosa
            simplex with muscular dystrophy
  JOURNAL   J Clin Invest 97 (10), 2289-2298 (1996)
   PUBMED   8636409
REFERENCE   20 (residues 1 to 4551)
  AUTHORS   Liu CG, Maercker C, Castanon MJ, Hauptmann R and Wiche G.
  TITLE     Human plectin: organization of the gene, sequence analysis, and
            chromosome localization (8q24)
  JOURNAL   Proc Natl Acad Sci U S A 93 (9), 4278-4283 (1996)
   PUBMED   8633055
REFERENCE   21 (residues 1 to 4551)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   22 (residues 1 to 4551)
  AUTHORS   So,J.Y. and Teng,J.
  TITLE     Epidermolysis Bullosa Simplex
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301543
REFERENCE   23 (residues 1 to 4551)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
REFERENCE   24 (residues 1 to 4551)
  AUTHORS   Lucky,A.W. and Gorell,E.
  TITLE     Epidermolysis Bullosa with Pyloric Atresia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301336
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Gunther Rezniczek, Gerhard Wiche. The reference
            sequence was derived from AC109322.16 and AY480050.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: Plectin is a prominent member of an important family of
            structurally and in part functionally related proteins, termed
            plakins or cytolinkers, that are capable of interlinking different
            elements of the cytoskeleton. Plakins, with their multi-domain
            structure and enormous size, not only play crucial roles in
            maintaining cell and tissue integrity and orchestrating dynamic
            changes in cytoarchitecture and cell shape, but also serve as
            scaffolding platforms for the assembly, positioning, and regulation
            of signaling complexes (reviewed in PMID: 9701547, 11854008, and
            17499243). Plectin is expressed as several protein isoforms in a
            wide range of cell types and tissues from a single gene located on
            chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this
            locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse
            and rat) and the gene product had been referred to as
            'hemidesmosomal protein 1' or 'plectin 1, intermediate filament
            binding 500kDa'. These names were superseded by plectin. The
            plectin gene locus in mouse on chromosome 15 has been analyzed in
            detail (PMID: 10556294, 14559777), revealing a genomic exon-intron
            organization with well over 40 exons spanning over 62 kb and an
            unusual 5' transcript complexity of plectin isoforms. Eleven exons
            (1-1j) have been identified that alternatively splice directly into
            a common exon 2 which is the first exon to encode plectin's highly
            conserved actin binding domain (ABD). Three additional exons (-1,
            0a, and 0) splice into an alternative first coding exon (1c), and
            two additional exons (2alpha and 3alpha) are optionally spliced
            within the exons encoding the acting binding domain (exons 2-8).
            Analysis of the human locus has identified eight of the eleven
            alternative 5' exons found in mouse and rat (PMID: 14672974); exons
            1i, 1j and 1h have not been confirmed in human. Furthermore,
            isoforms lacking the central rod domain encoded by exon 31 have
            been detected in mouse (PMID:10556294), rat (PMID: 9177781), and
            human (PMID: 11441066, 10780662, 20052759). The short alternative
            amino-terminal sequences encoded by the different first exons
            direct the targeting of the various isoforms to distinct
            subcellular locations (PMID: 14559777). As the expression of
            specific plectin isoforms was found to be dependent on cell type
            (tissue) and stage of development (PMID: 10556294, 12542521,
            17389230) it appears that each cell type (tissue) contains a unique
            set (proportion and composition) of plectin isoforms, as if
            custom-made for specific requirements of the particular cells.
            Concordantly, individual isoforms were found to carry out distinct
            and specific functions (PMID: 14559777, 12542521, 18541706). In
            1996, a number of groups reported that patients suffering from
            epidermolysis bullosa simplex with muscular dystrophy (EBS-MD)
            lacked plectin expression in skin and muscle tissues due to defects
            in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687,
            8696340). Two other subtypes of plectin-related EBS have been
            described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of
            plectin-related diseases see PMID: 15810881, 19945614. Mutations in
            the plectin gene related to human diseases should be named based on
            the position in NM_000445 (variant 1, isoform 1c), unless the
            mutation is located within one of the other alternative first
            exons, in which case the position in the respective Reference
            Sequence should be used. [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (10) differs in the 5' UTR and the
            5' coding region compared to variant 1. The resulting protein
            (isoform 1g) contains a distinct N-terminus compared to isoform 1c.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY480050.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 18541706, 17389230
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..4551
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..4551
                     /product="plectin isoform 1g"
                     /note="plectin 1, intermediate filament binding protein
                     500kDa; hemidesmosomal protein 1"
                     /calculated_mol_wt=516350
     Region          45..149
                     /region_name="CH_PLEC-like_rpt1"
                     /note="first calponin homology (CH) domain found in the
                     plectin/dystonin/MACF1 family; cd21188"
                     /db_xref="CDD:409037"
     Site            order(48,52,102,104..105,108..109,111,120..128,133,
                     135..136,138..139,142..143,146)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409037"
     Region          162..267
                     /region_name="CH_PLEC_rpt2"
                     /note="second calponin homology (CH) domain found in
                     plectin and similar proteins; cd21238"
                     /db_xref="CDD:409087"
     Site            order(164,168,218,220..221,224..225,227,236..244,251,
                     253..254,256..257,260..261,264)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409087"
     Site            order(192,195,215..218,220..221)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:409087"
     Region          526..715
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          622..811
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            725..730
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          797..863
                     /region_name="SH3_10"
                     /note="SH3 domain; pfam17902"
                     /db_xref="CDD:407754"
     Region          898..975
                     /region_name="Spectrin_like"
                     /note="Spectrin like domain; pfam18373"
                     /db_xref="CDD:436447"
     Region          <967..>1602
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          <1343..2055
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          <1726..2610
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          2695..2733
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          2733..2771
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          2770..2806
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          2809..2847
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3061..3099
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3098..3134
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          3137..3175
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3354..3388
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          3398..3430
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3429..3460
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          3468..3506
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3689..3724
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          3727..3765
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3764..3800
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          3803..3841
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3930..3967
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          3970..4008
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          4046..4084
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          <4147..4175
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          4279..4312
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          4315..4353
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          4391..4429
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     CDS             1..4551
                     /gene="PLEC"
                     /gene_synonym="EBS1; EBS5A; EBS5B; EBS5C; EBS5D; EBSMD;
                     EBSND; EBSO; EBSOG; EBSPA; HD1; LGMD2Q; LGMDR17; PCN;
                     PLEC1; PLEC1b; PLTN"
                     /coded_by="NM_201383.3:110..13765"
                     /note="isoform 1g is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS43774.1"
                     /db_xref="GeneID:5339"
                     /db_xref="HGNC:HGNC:9069"
                     /db_xref="MIM:601282"
ORIGIN      
        1 msgaggafas prevllerpc wldggcepar rgylyqqlcc vderdrvqkk tftkwvnkhl
       61 ikaqrhisdl yedlrdghnl isllevlsgd slprekgrmr fhklqnvqia ldylrhrqvk
      121 lvnirnddia dgnpkltlgl iwtiilhfqi sdiqvsgqse dmtakeklll wsqrmvegyq
      181 glrcdnftss wrdgrlfnai ihrhkpllid mnkvyrqtnl enldqafsva erdlgvtrll
      241 dpedvdvpqp deksiityvs slydamprvp dvqdgvrane lqlrwqeyre lvllllqwmr
      301 hhtaafeerr fpssfeeiei lwsqflkfke melpakeadk nrskgiyqsl egavqagqlk
      361 vppgyhpldv ekewgklhva ilerekqlrs eferleclqr ivtklqmeag lceeqlnqad
      421 allqsdvrll aagkvpqrag everdldkad smirllfndv qtlkdgrhpq geqmyrrvyr
      481 lherlvairt eynlrlkagv aapatqvaqv tlqsvqrrpe ledstlrylq dllawveenq
      541 hrvdgaewgv dlpsveaqlg shrglhqsie efrakierar sdegqlspat rgayrdclgr
      601 ldlqyaklln sskarlrsle slhsfvaaat kelmwlneke eeevgfdwsd rntnmtakke
      661 sysalmrele lkekkikelq nagdrllred hparptvesf qaalqtqwsw mlqlccciea
      721 hlkenaayfq ffsdvreaeg qlqklqealr rkyscdrsat vtrledllqd aqdekeqlne
      781 ykghlsglak rakavvqlkp rhpahpmrgr lpllavcdyk qvevtvhkgd ecqlvgpaqp
      841 shwkvlsssg seaavpsvcf lvpppnqeaq eavtrleaqh qalvtlwhql hvdmksllaw
      901 qslrrdvqli rswslatfrt lkpeeqrqal hslelhyqaf lrdsqdaggf gpedrlmaer
      961 eygscshhyq qllqsleqga qeesrcqrci selkdirlql eacetrtvhr lrlpldkepa
     1021 recaqriaeq qkaqaevegl gkgvarlsae aekvlalpep spaaptlrse leltlgkleq
     1081 vrslsaiyle klktislvir gtqgaeevlr aheeqlkeaq avpatlpele atkaslkklr
     1141 aqaeaqqptf dalrdelrga qevgerlqqr hgerdvever wrervaqlle rwqavlaqtd
     1201 vrqreleqlg rqlryyresa dplgawlqda rrrqeqiqam pladsqavre qlrqeqalle
     1261 eierhgekve ecqrfakqyi naikdyelql vtykaqlepv aspakkpkvq sgsesviqey
     1321 vdlrthysel ttltsqyikf isetlrrmee eerlaeqqra eererlaeve aalekqrqla
     1381 eahaqakaqa ereakelqqr mqeevvrree aavdaqqqkr siqeelqqlr qsseaeiqak
     1441 arqaeaaers rlrieeeirv vrlqleater qrggaegelq alraraeeae aqkrqaqeea
     1501 erlrrqvqde sqrkrqaeve lasrvkaeae aarekqralq aleelrlqae eaerrlrqae
     1561 verarqvqva letaqrsaea elqskrasfa ektaqlersl qeehvavaql reeaerraqq
     1621 qaeaeraree aerelerwql kanealrlrl qaeevaqqks laqaeaekqk eeaerearrr
     1681 gkaeeqavrq relaeqelek qrqlaegtaq qrlaaeqeli rlraeteqge qqrqlleeel
     1741 arlqreaaaa tqkrqeleae lakvraemev llaskaraee esrstseksk qrleaeagrf
     1801 relaeeaarl ralaeeakrq rqlaeedaar qraeaervla eklaaigeat rlkteaeial
     1861 kekeaenerl rrlaedeafq rrrleeqaaq hkadieerla qlrkasdsel erqkglvedt
     1921 lrqrrqveee ilalkasfek aaagkaelel elgrirsnae dtlrskeqae leaarqrqla
     1981 aeeerrrrea eervqkslaa eeeaarqrka aleeverlka kveearrlre raeqesarql
     2041 qlaqeaaqkr lqaeekahaf avqqkeqelq qtlqqeqsvl dqlrgeaeaa rraaeeaeea
     2101 rvqaereaaq srrqveeaer lkqsaeeqaq araqaqaaae klrkeaeqea arraqaeqaa
     2161 lrqkqaadae mekhkkfaeq tlrqkaqveq elttlrlqle etdhqknlld eelqrlkaea
     2221 teaarqrsqv eeelfsvrvq meelsklkar ieaenralil rdkdntqrfl qeeaekmkqv
     2281 aeeaarlsva aqeaarlrql aeedlaqqra laekmlkekm qavqeatrlk aeaellqqqk
     2341 elaqeqarrl qedkeqmaqq laeetqgfqr tleaerqrql emsaeaerlk lrvaemsraq
     2401 araeedaqrf rkqaeeigek lhrtelatqe kvtlvqtlei qrqqsdhdae rlreaiaele
     2461 rekeklqqea kllqlkseem qtvqqeqllq etqalqqsfl sekdsllqre rfieqekakl
     2521 eqlfqdevak aqqlreeqqr qqqqmeqerq rlvasmeear rrqheaeegv rrkqeelqql
     2581 eqqrrqqeel laeenqrlre qlqlleeqhr aalahseevt asqvaatktl pngrdaldgp
     2641 aaeaepehsf dglrrkvsaq rlqeagilsa eelqrlaqgh ttvdelarre dvrhylqgrs
     2701 siaglllkat neklsvyaal qrqllspgta lilleaqaas gflldpvrnr rltvneavke
     2761 gvvgpelhhk llsaeravtg ykdpytgqqi slfqamqkgl ivrehgirll eaqiatggvi
     2821 dpvhshrvpv dvayrrgyfd eemnrvladp sddtkgffdp nthenltylq llercvedpe
     2881 tglcllpltd kaakggelvy tdseardvfe katvsapfgk fqgktvtiwe iinseyftae
     2941 qrrdllrqfr tgritvekii kiiitvveeq eqkgrlcfeg lrslvpaael lesrvidrel
     3001 yqqlqrgers vrdvaevdtv rralrganvi agvwleeagq klsiynalkk dllpsdmava
     3061 lleaqagtgh iidpatsarl tvdeavragl vgpefhekll saekavtgyr dpytgqsvsl
     3121 fqalkkglip reqglrllda qlstggivdp skshrvpldv acargcldee tsralsapra
     3181 dakaysdpst gepatygelq qrcrpdqltg lsllplseka ararqeelys elqaretfek
     3241 tpvevpvggf kgrtvtvwel isseyftaeq rqellrqfrt gkvtvekvik ilitiveeve
     3301 tlrqerlsfs glrapvpase llasgvlsra qfeqlkdgkt tvkdlselgs vrtllqgsgc
     3361 lagiyledtk ekvsiyeamr rgllrattaa llleaqaatg flvdpvrnqr lyvheavkag
     3421 vvgpelheql lsaekavtgy rdpysgstis lfqamqkglv lrqhgirlle aqiatggiid
     3481 pvhshrvpvd vayqrgyfse emnrvladps ddtkgffdpn thenltyrql lercvedpet
     3541 glrllplkga ekaevvettq vyteeetrra feetqidipg ggshggstms lwevmqsdli
     3601 peeqraqlma dfqagrvtke rmiiiiieii ekteiirqqg lasydyvrrr ltaedlfear
     3661 iisletynll regtrslrea leaesawcyl ygtgsvagvy lpgsrqtlsi yqalkkglls
     3721 aevarlllea qaatgflldp vkgerltvde avrkglvgpe lhdrllsaer avtgyrdpyt
     3781 eqtislfqam kkelipteea lrlldaqlat ggivdprlgf hlplevayqr gylnkdthdq
     3841 lsepsevrsy vdpstderls ytqllrrcrr ddgtgqlllp lsdarkltfr glrkqitmee
     3901 lvrsqvmdea talqlreglt sieevtknlq kflegtscia gvfvdatker lsvyqamkkg
     3961 iirpgtafel leaqaatgyv idpikglklt veeavrmgiv gpefkdklls aeravtgykd
     4021 pysgklislf qamkkglilk dhgirlleaq iatggiidpe eshrlpveva ykrglfdeem
     4081 neiltdpsdd tkgffdpnte enltylqlme rcitdpqtgl cllplkekkr erktsskssv
     4141 rkrrvvivdp etgkemsvye ayrkglidhq tylelseqec eweeitisss dgvvksmiid
     4201 rrsgrqydid daiaknlidr saldqyragt lsitefadml sgnaggfrsr sssvgssssy
     4261 pispavsrtq laswsdptee tgpvagildt etlekvsite amhrnlvdni tgqrlleaqa
     4321 ctggiidpst gerfpvtdav nkglvdkimv drinlaqkaf cgfedprtkt kmsaaqalkk
     4381 gwlyyeagqr flevqyltgg liepdtpgrv pldealqrgt vdartaqklr dvgayskylt
     4441 cpktklkisy kdaldrsmve egtglrllea aaqstkgyys pysvsgsgst agsrtgsrtg
     4501 sragsrrgsf datgsgfsmt fssssysssg ygrryasgss aslggpesav a
//
LOCUS       NP_001341619             648 aa            linear   PRI 18-MAR-2023
DEFINITION  RAF proto-oncogene serine/threonine-protein kinase isoform b [Homo
            sapiens].
ACCESSION   NP_001341619 XP_005265412
VERSION     NP_001341619.1
DBSOURCE    REFSEQ: accession NM_001354690.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 648)
  AUTHORS   Qian Y, Zhou L, Luk STY, Xu J, Li W, Gou H, Chen H, Kang W, Yu J
            and Wong CC.
  TITLE     The sodium channel subunit SCNN1B suppresses colorectal cancer via
            suppression of active c-Raf and MAPK signaling cascade
  JOURNAL   Oncogene 42 (8), 601-612 (2023)
   PUBMED   36564468
  REMARK    GeneRIF: The sodium channel subunit SCNN1B suppresses colorectal
            cancer via suppression of active c-Raf and MAPK signaling cascade.
REFERENCE   2  (residues 1 to 648)
  AUTHORS   Yuan J, Lv T, Yang J, Wu Z, Yan L, Yang J, Shi Y and Jiang L.
  TITLE     HDLBP Promotes Hepatocellular Carcinoma Proliferation and Sorafenib
            Resistance by Suppressing Trim71-dependent RAF1 Degradation
  JOURNAL   Cell Mol Gastroenterol Hepatol 15 (2), 307-325 (2023)
   PUBMED   36244648
  REMARK    GeneRIF: HDLBP Promotes Hepatocellular Carcinoma Proliferation and
            Sorafenib Resistance by Suppressing Trim71-dependent RAF1
            Degradation.
REFERENCE   3  (residues 1 to 648)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   4  (residues 1 to 648)
  AUTHORS   Bhushan R, Rani A, Gupta D, Ali A and Dubey PK.
  TITLE     MicroRNA-7 Regulates Insulin Signaling Pathway by Targeting IRS1,
            IRS2, and RAF1 Genes in Gestational Diabetes Mellitus
  JOURNAL   Microrna 11 (1), 57-72 (2022)
   PUBMED   35422233
  REMARK    GeneRIF: MicroRNA-7 Regulates Insulin Signaling Pathway by
            Targeting IRS1, IRS2, and RAF1 Genes in Gestational Diabetes
            Mellitus.
REFERENCE   5  (residues 1 to 648)
  AUTHORS   Gelb,B.D. and Tartaglia,M.
  TITLE     Noonan Syndrome with Multiple Lentigines
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301557
REFERENCE   6  (residues 1 to 648)
  AUTHORS   Roberts,A.E.
  TITLE     Noonan Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301303
REFERENCE   7  (residues 1 to 648)
  AUTHORS   Maslinski W, Remillard B, Tsudo M and Strom TB.
  TITLE     Interleukin-2 (IL-2) induces tyrosine kinase-dependent
            translocation of active raf-1 from the IL-2 receptor into the
            cytosol
  JOURNAL   J Biol Chem 267 (22), 15281-15284 (1992)
   PUBMED   1639773
REFERENCE   8  (residues 1 to 648)
  AUTHORS   Tory K, Latif F, Modi W, Schmidt L, Wei MH, Li H, Cobler P, Orcutt
            ML, Delisio J, Geil L et al.
  TITLE     A genetic linkage map of 96 loci on the short arm of human
            chromosome 3
  JOURNAL   Genomics 13 (2), 275-286 (1992)
   PUBMED   1612588
REFERENCE   9  (residues 1 to 648)
  AUTHORS   Galland F, Stefanova M, Lafage M and Birnbaum D.
  TITLE     Localization of the 5' end of the MCF2 oncogene to human chromosome
            15q15----q23
  JOURNAL   Cytogenet Cell Genet 60 (2), 114-116 (1992)
   PUBMED   1611909
REFERENCE   10 (residues 1 to 648)
  AUTHORS   Li P, Wood K, Mamon H, Haser W and Roberts T.
  TITLE     Raf-1: a kinase currently without a cause but not lacking in
            effects
  JOURNAL   Cell 64 (3), 479-482 (1991)
   PUBMED   1846778
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026170.5 and AC018500.4.
            On Aug 18, 2017 this sequence version replaced XP_005265412.1.
            
            Summary: This gene is the cellular homolog of viral raf gene
            (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K),
            which functions downstream of the Ras family of membrane associated
            GTPases to which it binds directly. Once activated, the cellular
            RAF1 protein can phosphorylate to activate the dual specificity
            protein kinases MEK1 and MEK2, which in turn phosphorylate to
            activate the serine/threonine specific protein kinases, ERK1 and
            ERK2. Activated ERKs are pleiotropic effectors of cell physiology
            and play an important role in the control of gene expression
            involved in the cell division cycle, apoptosis, cell
            differentiation and cell migration. Mutations in this gene are
            associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3), as well as variant 2, encodes
            isoform b.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853566.19052.1,
                                           SRR14038191.3441430.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.2"
     Protein         1..648
                     /product="RAF proto-oncogene serine/threonine-protein
                     kinase isoform b"
                     /EC_number="2.7.11.1"
                     /note="raf proto-oncogene serine/threonine protein kinase;
                     Oncogene RAF1; RAF proto-oncogene serine/threonine-protein
                     kinase; proto-oncogene c-RAF; v-raf-1 murine leukemia
                     viral oncogene homolog 1; C-Raf proto-oncogene,
                     serine/threonine kinase; v-raf-1 murine leukemia viral
                     oncogene-like protein 1"
                     /calculated_mol_wt=72921
     Site            29
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK1.
                     /evidence=ECO:0000250|UniProtKB:Q99N57; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Site            43
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKA and MAPK1.
                     /evidence=ECO:0000269|PubMed:8349614; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Region          55..131
                     /region_name="RBD_CRAF"
                     /note="Ras-binding domain (RBD) found in RAF
                     proto-oncogene serine/threonine-protein kinase RAF1/CRAF;
                     cd17135"
                     /db_xref="CDD:340655"
     Site            order(57,59,64..69,71,84,88..90)
                     /site_type="other"
                     /note="RBD_Raf-Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:340655"
     Site            order(57,64,66..69,84,87..90)
                     /site_type="other"
                     /note="putative RBD_Raf-KRas interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:340655"
     Site            125
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:340655"
     Region          136..187
                     /region_name="C1_A_C-Raf"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in A- and C-Raf (Rapidly Accelerated Fibrosarcoma)
                     kinases, and similar proteins; cd20870"
                     /db_xref="CDD:410420"
     Region          220..334
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P04049.1)"
     Site            252
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Site            259
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKA, PKC and PKB/AKT1.
                     /evidence=ECO:0000269|PubMed:10576742,
                     ECO:0000269|PubMed:10801873, ECO:0000269|PubMed:11756411,
                     ECO:0000269|PubMed:15047712, ECO:0000269|PubMed:16630891,
                     ECO:0000269|PubMed:16892053, ECO:0000269|PubMed:8349614;
                     propagated from UniProtKB/Swiss-Prot (P04049.1)"
     Site            268
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:8349614; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Site            269
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PKA.
                     /evidence=ECO:0000269|PubMed:7477354; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Site            289
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK1.
                     /evidence=ECO:0000269|PubMed:21917714,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Site            296
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Site            301
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK1.
                     /evidence=ECO:0000269|PubMed:21917714,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P04049.1)"
     Region          331..349
                     /region_name="Interaction with PEBP1/RKIP"
                     /note="propagated from UniProtKB/Swiss-Prot (P04049.1)"
     Region          336..618
                     /region_name="STKc_C-Raf"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     C-Raf (Rapidly Accelerated Fibrosarcoma) kinase; cd14149"
                     /db_xref="CDD:271051"
     Site            338
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PAK1, PAK2, PAK3 and PAK5.
                     /evidence=ECO:0000269|PubMed:11733498,
                     ECO:0000269|PubMed:15849194, ECO:0000269|PubMed:16892053,
                     ECO:0000269|PubMed:18465753, ECO:0000269|PubMed:21917714;
                     propagated from UniProtKB/Swiss-Prot (P04049.1)"
     Site            339
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PAK1, PAK2 and PAK3.
                     /evidence=ECO:0000269|PubMed:15849194; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Site            order(340,342,367,369..370,397..403,407..409,454,457..458,
                     461..462,478,480,607)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:271051"
     Site            340
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by SRC.
                     /evidence=ECO:0000269|PubMed:16892053; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Site            341
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by SRC.
                     /evidence=ECO:0000269|PubMed:16892053; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Site            order(355..359,363,373,375,406,421..424,428,430,468,470,
                     472..473,475,486,489,507..510)
                     /site_type="active"
                     /db_xref="CDD:271051"
     Site            order(355..359,363,373,375,406,421..424,428,468,470,
                     472..473,475,486)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271051"
     Site            order(359,428,430,468,470,472,489,507..510)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271051"
     Site            471
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16093354; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Site            485..510
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271051"
     Site            491
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:11447113; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Site            494
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:11447113; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Site            499
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000269|PubMed:8349614; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Site            563
                     /site_type="methylation"
                     /note="Symmetric dimethylarginine, by PRMT5.
                     /evidence=ECO:0000269|PubMed:21917714; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Site            621
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:10801873,
                     ECO:0000269|PubMed:16892053, ECO:0000269|PubMed:21917714,
                     ECO:0000269|PubMed:8349614; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     Site            642
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK1.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P04049.1)"
     CDS             1..648
                     /gene="RAF1"
                     /gene_synonym="c-Raf; CMD1NN; CRAF; NS5; Raf-1"
                     /coded_by="NM_001354690.3:167..2113"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS2612.1"
                     /db_xref="GeneID:5894"
                     /db_xref="HGNC:HGNC:9829"
                     /db_xref="MIM:164760"
ORIGIN      
        1 mehiqgawkt isngfgfkda vfdgsscisp tivqqfgyqr rasddgkltd psktsntirv
       61 flpnkqrtvv nvrngmslhd clmkalkvrg lqpeccavfr llhehkgkka rldwntdaas
      121 ligeelqvdf ldhvpltthn farktflkla fcdicqkfll ngfrcqtcgy kfhehcstkv
      181 ptmcvdwsni rqlllfpnst igdsgvpalp sltmrrmres vsrmpvssqh rystphaftf
      241 ntsspssegs lsqrqrstst pnvhmvsttl pvdsrmieda irshsesasp salssspnnl
      301 sptgwsqpkt pvpaqrerap vsgtqeknki rprgqrdssy yweieasevm lstrigsgsf
      361 gtvykgkwhg dvavkilkvv dptpeqfqaf rnevavlrkt rhvnillfmg ymtkdnlaiv
      421 tqwcegssly khlhvqetkf qmfqlidiar qtaqgmdylh akniihrdmk snniflhegl
      481 tvkigdfgla tvksrwsgsq qveqptgsvl wmapevirmq dnnpfsfqsd vysygivlye
      541 lmtgelpysh innrdqiifm vgrgyaspdl sklykncpka mkrlvadcvk kvkeerplfp
      601 qilssiellq hslpkinrsa sepslhraah tedinactlt tsprlpvf
//
LOCUS       NP_001365416             747 aa            linear   PRI 18-MAR-2023
DEFINITION  carnitine O-palmitoyltransferase 1, brain isoform isoform 6 [Homo
            sapiens].
ACCESSION   NP_001365416 XP_016881755
VERSION     NP_001365416.1
DBSOURCE    REFSEQ: accession NM_001378487.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 747)
  AUTHORS   Fado R, Zagmutt S, Herrero L, Muley H, Rodriguez-Rodriguez R, Bi H,
            Serra D and Casals N.
  TITLE     To be or not to be a fat burner, that is the question for cpt1c in
            cancer cells
  JOURNAL   Cell Death Dis 14 (1), 57 (2023)
   PUBMED   36693836
  REMARK    GeneRIF: To be or not to be a fat burner, that is the question for
            cpt1c in cancer cells.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 747)
  AUTHORS   Muley H, Valencia K, Casas J, Moreno B, Botella L, Lecanda F, Fado
            R and Casals N.
  TITLE     Cpt1c Downregulation Causes Plasma Membrane Remodelling and
            Anthracycline Resistance in Breast Cancer
  JOURNAL   Int J Mol Sci 24 (2), 946 (2023)
   PUBMED   36674468
  REMARK    GeneRIF: Cpt1c Downregulation Causes Plasma Membrane Remodelling
            and Anthracycline Resistance in Breast Cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 747)
  AUTHORS   Chen P, Zhang Q, Zhang H, Gao Y, Zhou Y, Chen Y, Guan L, Jiao T,
            Zhao Y, Huang M and Bi H.
  TITLE     Carnitine palmitoyltransferase 1C reverses cellular senescence of
            MRC-5 fibroblasts via regulating lipid accumulation and
            mitochondrial function
  JOURNAL   J Cell Physiol 236 (2), 958-970 (2021)
   PUBMED   32632982
  REMARK    GeneRIF: Carnitine palmitoyltransferase 1C reverses cellular
            senescence of MRC-5 fibroblasts via regulating lipid accumulation
            and mitochondrial function.
REFERENCE   4  (residues 1 to 747)
  AUTHORS   Chen Y, Zhou Y, Han F, Zhao Y, Tu M, Wang Y, Huang C, Fan S, Chen
            P, Yao X, Guan L, Yu AM, Gonzalez FJ, Huang M and Bi H.
  TITLE     A novel miR-1291-ERRalpha-CPT1C axis modulates tumor cell
            proliferation, metabolism and tumorigenesis
  JOURNAL   Theranostics 10 (16), 7193-7210 (2020)
   PUBMED   32641987
  REMARK    GeneRIF: A novel miR-1291-ERRalpha-CPT1C axis modulates tumor cell
            proliferation, metabolism and tumorigenesis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 747)
  AUTHORS   Lohse I, Reilly P and Zaugg K.
  TITLE     The CPT1C 5'UTR contains a repressing upstream open reading frame
            that is regulated by cellular energy availability and AMPK
  JOURNAL   PLoS One 6 (9), e21486 (2011)
   PUBMED   21961029
  REMARK    GeneRIF: Data suggest that an involvement of CPT1C in cellular
            energy-sensing pathways and provide evidence for a role of CPT1C in
            hypothalamic regulation of energy homeostasis.
REFERENCE   6  (residues 1 to 747)
  AUTHORS   Djouadi F, Aubey F, Schlemmer D and Bastin J.
  TITLE     Peroxisome proliferator activated receptor delta (PPARdelta)
            agonist but not PPARalpha corrects carnitine palmitoyl transferase
            2 deficiency in human muscle cells
  JOURNAL   J Clin Endocrinol Metab 90 (3), 1791-1797 (2005)
   PUBMED   15613406
REFERENCE   7  (residues 1 to 747)
  AUTHORS   Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A and Bastin
            J.
  TITLE     Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and
            medical aspects
  JOURNAL   Mol Aspects Med 25 (5-6), 495-520 (2004)
   PUBMED   15363638
  REMARK    Review article
REFERENCE   8  (residues 1 to 747)
  AUTHORS   Price N, van der Leij F, Jackson V, Corstorphine C, Thomson R,
            Sorensen A and Zammit V.
  TITLE     A novel brain-expressed protein related to carnitine
            palmitoyltransferase I
  JOURNAL   Genomics 80 (4), 433-442 (2002)
   PUBMED   12376098
REFERENCE   9  (residues 1 to 747)
  AUTHORS   van der Leij FR, Huijkman NC, Boomsma C, Kuipers JR and Bartelds B.
  TITLE     Genomics of the human carnitine acyltransferase genes
  JOURNAL   Mol Genet Metab 71 (1-2), 139-153 (2000)
   PUBMED   11001805
  REMARK    Review article
REFERENCE   10 (residues 1 to 747)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011495.8 and KF456599.1.
            On Feb 19, 2020 this sequence version replaced XP_016881755.1.
            
            Summary: This gene encodes a member of the carnitine/choline
            acetyltransferase family. The encoded protein regulates the
            beta-oxidation and transport of long-chain fatty acids into
            mitochondria, and may play a role in the regulation of feeding
            behavior and whole-body energy homeostasis. Alternatively spliced
            transcript variants encoding multiple protein isoforms have been
            observed for this gene. [provided by RefSeq, Dec 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.273620.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2146982
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..747
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..747
                     /product="carnitine O-palmitoyltransferase 1, brain
                     isoform isoform 6"
                     /EC_number="2.3.1.21"
                     /note="carnitine palmitoyltransferase I related C"
                     /calculated_mol_wt=84320
     Region          1..47
                     /region_name="CPT_N"
                     /note="Carnitine O-palmitoyltransferase N-terminus;
                     pfam16484"
                     /db_xref="CDD:435366"
     Region          174..697
                     /region_name="Carn_acyltransf"
                     /note="Choline/Carnitine o-acyltransferase; pfam00755"
                     /db_xref="CDD:425853"
     CDS             1..747
                     /gene="CPT1C"
                     /gene_synonym="CATL1; CPT1-B; CPT1P; CPTI-B; CPTIC; SPG73"
                     /coded_by="NM_001378487.1:309..2552"
                     /note="isoform 6 is encoded by transcript variant 12"
                     /db_xref="GeneID:126129"
                     /db_xref="HGNC:HGNC:18540"
                     /db_xref="MIM:608846"
ORIGIN      
        1 maeahqavgf rpsltsdgae velsapvlqe iylsglrswk rhlsrfwndf ltgvfpaspl
       61 swlflfsaiq lawflqldps lglmekikel lpdwggqhhg lrgvlaaalf asclwgalif
      121 tlhvalrlll syhgwlleph gamssptktw lalvrifsgr hpmlfsyqrs lprqpvpsvq
      181 dtvrkylesv rpilsdedfd wtavlaqefl rlqasllqwy lrlkswwasn yvsdwweefv
      241 ylrsrnplmv nsnyymmaar agnavhalll yrhrlnrqei pptllmgmrp lcsaqyekif
      301 nttripgvqk dyirhlhdsq hvavfhrgrf frmgthsrns llspraleqq fqrilddpsp
      361 acpheehlaa ltaaprgtwa qvrtslktqa aealeavega affvsldaep agltredpaa
      421 sldayahall agrghdrwfd ksftlivfsn gklglsvehs wadcpisghm weftlatecf
      481 qlgystdghc kghpdptlpq pqrlqwdlpd qihssislal rgakilsenv dchvvpfslf
      541 gksfirrchl ssdsfiqial qlahfrdpqc lalfrvavdk hqallkaams gqgvdrhlfa
      601 lyivsrflhl qspfltqvhs eqwqlstsqi pvqqmhlfdv hnypdyvssg ggfgpaddhg
      661 ygvsyifmgd gmitfhissk ksstktdshr lgqhiedall dvaslfqagq hfkrrfrgsg
      721 kensrhrcgf lsrqtgaska smtstdf
//
LOCUS       NP_001316868             412 aa            linear   PRI 19-MAR-2023
DEFINITION  transforming growth factor beta-3 proprotein isoform 1
            preproprotein [Homo sapiens].
ACCESSION   NP_001316868
VERSION     NP_001316868.1
DBSOURCE    REFSEQ: accession NM_001329939.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 412)
  AUTHORS   Ndoricyimpaye EL, Van Snick J, Niyoyita JD, Kanimba P, Mbonimpa JB,
            Rutayisire R, Rutayisire R, Ndahindwa V, Cheou P, Coutelier JP and
            Rujeni N.
  TITLE     Integrated Analysis of Cytokine Profiles in Malaria Patients
            Discloses Selective Upregulation of TGF-beta1, beta3, and IL-9 in
            Mild Clinical Presentation
  JOURNAL   Int J Mol Sci 23 (20), 12665 (2022)
   PUBMED   36293524
  REMARK    GeneRIF: Integrated Analysis of Cytokine Profiles in Malaria
            Patients Discloses Selective Upregulation of TGF-beta1, beta3, and
            IL-9 in Mild Clinical Presentation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 412)
  AUTHORS   Xiong Z, Zhou L, Chen J, Li M and Xie R.
  TITLE     [Association between postpartum depression and concentrations of
            transforming growth factor-beta in human colostrum: a nested cohort
            study]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 42 (9), 1426-1430 (2022)
   PUBMED   36210718
  REMARK    GeneRIF: [Association between postpartum depression and
            concentrations of transforming growth factor-beta in human
            colostrum: a nested cohort study].
REFERENCE   3  (residues 1 to 412)
  AUTHORS   Liu M, Honjo M, Yamagishi R, Igarashi N, Nakamura N, Kurano M,
            Yatomi Y, Igarashi K and Aihara M.
  TITLE     Fibrotic Response of Human Trabecular Meshwork Cells to
            Transforming Growth Factor-Beta 3 and Autotaxin in Aqueous Humor
  JOURNAL   Biomolecules 12 (9), 1231 (2022)
   PUBMED   36139071
  REMARK    GeneRIF: Fibrotic Response of Human Trabecular Meshwork Cells to
            Transforming Growth Factor-Beta 3 and Autotaxin in Aqueous Humor.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 412)
  AUTHORS   Loeys,B.L. and Dietz,H.C.
  TITLE     Loeys-Dietz Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301312
REFERENCE   5  (residues 1 to 412)
  AUTHORS   McNally,E., MacLeod,H. and Dellefave-Castillo,L.
  TITLE     Arrhythmogenic Right Ventricular Cardiomyopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301310
REFERENCE   6  (residues 1 to 412)
  AUTHORS   Milewicz,D.M. and Regalado,E.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
REFERENCE   7  (residues 1 to 412)
  AUTHORS   Wrana JL, Attisano L, Carcamo J, Zentella A, Doody J, Laiho M, Wang
            XF and Massague J.
  TITLE     TGF beta signals through a heteromeric protein kinase receptor
            complex
  JOURNAL   Cell 71 (6), 1003-1014 (1992)
   PUBMED   1333888
REFERENCE   8  (residues 1 to 412)
  AUTHORS   Cheifetz S, Bellon T, Cales C, Vera S, Bernabeu C, Massague J and
            Letarte M.
  TITLE     Endoglin is a component of the transforming growth factor-beta
            receptor system in human endothelial cells
  JOURNAL   J Biol Chem 267 (27), 19027-19030 (1992)
   PUBMED   1326540
REFERENCE   9  (residues 1 to 412)
  AUTHORS   Arrick BA, Lee AL, Grendell RL and Derynck R.
  TITLE     Inhibition of translation of transforming growth factor-beta 3 mRNA
            by its 5' untranslated region
  JOURNAL   Mol Cell Biol 11 (9), 4306-4313 (1991)
   PUBMED   1875922
REFERENCE   10 (residues 1 to 412)
  AUTHORS   ten Dijke P, Hansen P, Iwata KK, Pieler C and Foulkes JG.
  TITLE     Identification of another member of the transforming growth factor
            type beta gene family
  JOURNAL   Proc Natl Acad Sci U S A 85 (13), 4715-4719 (1988)
   PUBMED   3164476
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF107885.2 and BQ448273.1.
            
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate a latency-associated peptide
            (LAP) and a mature peptide, and is found in either a latent form
            composed of a mature peptide homodimer, a LAP homodimer, and a
            latent TGF-beta binding protein, or in an active form consisting
            solely of the mature peptide homodimer. The mature peptide may also
            form heterodimers with other TGF-beta family members. This protein
            is involved in embryogenesis and cell differentiation, and may play
            a role in wound healing. Mutations in this gene are a cause of
            aortic aneurysms and dissections, as well as familial
            arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq,
            Aug 2016].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.54144.1,
                                           SRR14038195.76570.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..412
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     Protein         1..412
                     /product="transforming growth factor beta-3 proprotein
                     isoform 1 preproprotein"
                     /note="prepro-transforming growth factor beta-3;
                     transforming growth factor beta-3 proprotein"
                     /calculated_mol_wt=44790
     sig_peptide     1..23
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2556
     mat_peptide     24..300
                     /product="Latency-associated peptide.
                     /evidence=ECO:0000250|UniProtKB:P01137.
                     /id=PRO_0000033796"
                     /note="propagated from UniProtKB/Swiss-Prot (P10600.1)"
                     /calculated_mol_wt=32086
     Region          24..231
                     /region_name="TGFb_propeptide"
                     /note="TGF-beta propeptide; pfam00688"
                     /db_xref="CDD:425823"
     Site            74
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P10600.1)"
     Site            135
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P10600.1)"
     Site            142
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P10600.1)"
     Region          261..263
                     /region_name="Cell attachment site.
                     /evidence=ECO:0000250|UniProtKB:P01137"
                     /note="propagated from UniProtKB/Swiss-Prot (P10600.1)"
     Site            293
                     /site_type="methylation"
                     /note="N5-methylglutamine.
                     /evidence=ECO:0000269|PubMed:26797129; propagated from
                     UniProtKB/Swiss-Prot (P10600.1)"
     mat_peptide     301..412
                     /product="Transforming growth factor beta-3.
                     /evidence=ECO:0000250|UniProtKB:P01137.
                     /id=PRO_0000033797"
                     /note="propagated from UniProtKB/Swiss-Prot (P10600.1)"
                     /calculated_mol_wt=12723
     Region          312..412
                     /region_name="TGF_beta_TGFB3"
                     /note="transforming growth factor beta (TGF-beta) like
                     domain found in transforming growth factor beta-3
                     (TGF-beta-3) and similar proteins; cd19386"
                     /db_xref="CDD:381656"
     Site            order(320..322,324,326..328,330,339,341..345,356..358,
                     360..362,364..365,368..369,373..375,377..380,383,401..406,
                     412)
                     /site_type="other"
                     /note="putative homodimer interface [polypeptide binding]"
                     /db_xref="CDD:381656"
     Site            order(325,331..332,334,390..394)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:381656"
     CDS             1..412
                     /gene="TGFB3"
                     /gene_synonym="ARVD; ARVD1; LDS5; RNHF; TGF-beta3"
                     /coded_by="NM_001329939.2:1086..2324"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS9846.1"
                     /db_xref="GeneID:7043"
                     /db_xref="HGNC:HGNC:11769"
                     /db_xref="MIM:190230"
ORIGIN      
        1 mkmhlqralv vlallnfatv slslstcttl dfghikkkrv eairgqilsk lrltsppept
       61 vmthvpyqvl alynstrell eemhgereeg ctqentesey yakeihkfdm iqglaehnel
      121 avcpkgitsk vfrfnvssve knrtnlfrae frvlrvpnps skrneqriel fqilrpdehi
      181 akqryiggkn lptrgtaewl sfdvtdtvre wllrresnlg leisihcpch tfqpngdile
      241 nihevmeikf kgvdneddhg rgdlgrlkkq kdhhnphlil mmipphrldn pgqggqrkkr
      301 aldtnycfrn leenccvrpl yidfrqdlgw kwvhepkgyy anfcsgpcpy lrsadtthst
      361 vlglyntlnp easaspccvp qdlepltily yvgrtpkveq lsnmvvksck cs
//
LOCUS       XP_047283203             871 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/arginine repetitive matrix protein 1 isoform X16 [Homo
            sapiens].
ACCESSION   XP_047283203
VERSION     XP_047283203.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427247.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..871
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..871
                     /product="serine/arginine repetitive matrix protein 1
                     isoform X16"
                     /calculated_mol_wt=98172
     Region          46..115
                     /region_name="PWI"
                     /note="PWI domain; pfam01480"
                     /db_xref="CDD:426282"
     Region          <121..209
                     /region_name="PRK04195"
                     /note="replication factor C large subunit; Provisional"
                     /db_xref="CDD:235250"
     Region          <573..>707
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     CDS             1..871
                     /gene="SRRM1"
                     /gene_synonym="160-KD; POP101; SRM160"
                     /coded_by="XM_047427247.1:26..2641"
                     /db_xref="GeneID:10250"
                     /db_xref="HGNC:HGNC:16638"
                     /db_xref="MIM:605975"
ORIGIN      
        1 mdagffrgts aeqdnrfsnk qkkllkqlkf aeclekkvdm skvnlevikp witkrvteil
       61 gfeddvvief ifnqlevknp dskmmqinlt gflngknare fmgelwplll saqeniagip
      121 saflelkkee ikqrqieqek lasmkkqded kdkrdkeeke ssrekrersr sprrtksrsp
      181 spapekkekt pelpepsvkv kepsvqeats tsdilkvpkp epipepkeps peknskkeke
      241 kektrprsrs rsksrsrtrs rspshtrprr rhrsrsrsys prrrpsprrr psprrrtppr
      301 rmpppprhrr srspvrrrrr ssaslsgsss sssssrsrsp pkkppkrtss pprktrrlsp
      361 saspprrrhr psppatpppk trhsptpqqs nrtrksrvsv spgrtsvtkh kgtekresps
      421 papkprkvel sesedkggkm aaadsvqqrr qyrrqnqqss sdsgssssse derpkrshvk
      481 ngevgrrrrh spsrsaspsp rkrqketspr grrrrspspp ptrrrrspsp appprrrrtp
      541 tppprrrtps ppprrrspsp rrysppiqrr yspspppkrr taspppppkr raspspppkr
      601 rvshspppkq rsspvtkrrs pslsskhrkg sspsrstrea rspqpnkrhs psprprapqt
      661 ssspppvrrg assspqrrqs pspstrpirr vsrtpepkki kkaaspspqs vrrvsssrsv
      721 sgspepaakk ppappspvqs qspstnwspa vpvkkakspt pspspprnsd qegggkkkkk
      781 kkdkkhkkdk khkkhkkhkk ekavaaaaaa avtpaaiaaa tttlaqeepv aapepkkete
      841 seaednlddl ekhlrekalr smrkaqvspq s
//
LOCUS       XP_005273119             128 aa            linear   PRI 20-MAR-2023
DEFINITION  39S ribosomal protein L55, mitochondrial isoform X1 [Homo sapiens].
ACCESSION   XP_005273119
VERSION     XP_005273119.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005273062.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..128
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..128
                     /product="39S ribosomal protein L55, mitochondrial isoform
                     X1"
                     /calculated_mol_wt=14997
     Region          11..125
                     /region_name="Mitoc_L55"
                     /note="Mitochondrial ribosomal protein L55; pfam09776"
                     /db_xref="CDD:430816"
     CDS             1..128
                     /gene="MRPL55"
                     /gene_synonym="AAVG5835; L55nt; MRP-L55; PRO19675"
                     /coded_by="XM_005273062.4:168..554"
                     /db_xref="GeneID:128308"
                     /db_xref="HGNC:HGNC:16686"
                     /db_xref="MIM:611859"
ORIGIN      
        1 maavgsllgr lrqstvkatg palrrlhtss wradssrasl trvhrqayar lypvllvkqd
       61 gstihiryre prrmlampid ldtlspeerr arlrkreaql qsrkeyeqel sddlhveryr
      121 qfwtrtkk
//
LOCUS       XP_016856682            1098 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of G-protein signaling protein-like isoform X2 [Homo
            sapiens].
ACCESSION   XP_016856682
VERSION     XP_016856682.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001193.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1098
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1098
                     /product="regulator of G-protein signaling protein-like
                     isoform X2"
                     /calculated_mol_wt=128442
     Region          672..851
                     /region_name="RGS-like_2"
                     /note="Uncharacterized Regulator of G protein Signaling
                     (RGS) domain subfamily, child 2; cd08728"
                     /db_xref="CDD:188683"
     Region          898..1002
                     /region_name="RGS"
                     /note="Regulator of G protein signaling (RGS) domain
                     superfamily; cl02565"
                     /db_xref="CDD:445834"
     CDS             1..1098
                     /gene="RGSL1"
                     /gene_synonym="RGSL; RGSL2"
                     /coded_by="XM_017001193.3:198..3494"
                     /db_xref="GeneID:353299"
                     /db_xref="HGNC:HGNC:18636"
                     /db_xref="MIM:611012"
ORIGIN      
        1 mkslpifsth ffpsrfvlqv fgqtpfytve nsqwslwpei pcnliakykg lltwlekcrl
       61 pffcktnlcf hyilcqefis fikspegakm mrwkkadqwl lqkciggvrg mwrfysyltg
      121 sageelvdfw ilaenilsid emdlevrdyy lslllmlrat hlqegsrvvt lcnmniksll
      181 nlsiwhpnqs ttrreilshm qkvalfklqs ywlpnfytht kmtmakeeac hglmqeyetr
      241 lysvcythig glplnmsikk chhfqkryss rkakrkmwql vdpdswslem dlkpdaigmp
      301 lqetcpqekv viqmpslkma ssketrissl ekdmhyakis smenkakshl hmeapfetkv
      361 sthlrtvipi vnhsskmtiq kaikqsfslg yihlalcada cagnpfrdhl kklnlkveiq
      421 lldlwqdlqh flsvllnnkk ngnaifrhll gdricelyln eqigpclplk sqtiqglkel
      481 lpsgdvipwi pkaqkeickm lspwydefld eedywfllft tqnrfissrq hkrefigkee
      541 nillykriqq slelsqalad mkemdyrqwr kiatedlkqg gslqveltsp vfltditkms
      601 feelcyknpk maiqkisddy kiycekapki dfkmeiiket ktvsrsnrkm sllkrtlvrk
      661 psmrprnlte vllntqhlef freflkerka kiplqfltav qkisietnek ickslienvi
      721 ktffqgqlsp eemlqcdapi ikeiasmrhv ttstlltlqg hvmksieekw fkdyqdlfpp
      781 hhqevevqse vqissrkpsk ivstylqesq kkgwmrmisf irsfckyrrf mlnpskrqef
      841 edylhqemqn skenfttahn tsgrsappst nvrsadqeng eitlvkrrif ghriitvnfa
      901 indlyffsem ekfndlvssa hmlqvnrayn endvilmrsk mniiqklfln sdippklrvn
      961 vpefqkdail aaitegyldr svfhgaimsv fpvvmyfwkr fcfwkatrsy lqyrgkkfkd
     1021 rksppkstdk ypfssggdna ilrftllrgi ewlqpqreai ssvqnssssk ltqprlvvsa
     1081 mqlhpvqgqk lsyikkek
//
LOCUS       XP_011542565            1597 aa            linear   PRI 20-MAR-2023
DEFINITION  probable methyltransferase TARBP1 isoform X2 [Homo sapiens].
ACCESSION   XP_011542565
VERSION     XP_011542565.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544263.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1597
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1597
                     /product="probable methyltransferase TARBP1 isoform X2"
                     /calculated_mol_wt=178819
     Region          1440..1584
                     /region_name="SpoU-like_TRM3-like"
                     /note="SAM-dependent tRNA methylase related to TRM3;
                     cd18091"
                     /db_xref="CDD:349964"
     Site            order(1458..1459,1461..1464,1491,1528..1529,1562..1566,
                     1570..1572,1574..1575,1578..1579,1582..1583)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:349964"
     Site            order(1519..1521,1541..1545,1547,1560..1562,1564,
                     1569..1571,1573,1576)
                     /site_type="other"
                     /note="SAM binding site [chemical binding]"
                     /db_xref="CDD:349964"
     CDS             1..1597
                     /gene="TARBP1"
                     /gene_synonym="TRM3; TRMT3; TRP-185; TRP185"
                     /coded_by="XM_011544263.3:77..4870"
                     /db_xref="GeneID:6894"
                     /db_xref="HGNC:HGNC:11568"
                     /db_xref="MIM:605052"
ORIGIN      
        1 mewvlaeall sqsrdprall galcqgeasa ervetlrfll qrledeearg sggagalpea
       61 arevaagylv pllrslrgrp aggpdpslqp rhrrrvlraa gaalrscvrl agrpqlaaal
      121 aeealrdlla gwrapgaeaa vevlaavgpc lrpredgpll ervagtaval alggggdgde
      181 agpaedaaal vagrllpvlv qcggaalrav wgglaapgas lgsgrveekl lvlsalaekl
      241 lpepggdrar gareagpdar rcwrfwrtvq aglgqadalt rkraryllqr avevsaelga
      301 dctcgpqegn gpslfwwser kkdellkfwe nyilimetle gnqihvikpv lpklnnlfey
      361 avseengcwl fhpswhmciy krmfesenki lskegvihfl elyetkilpf spefsefiig
      421 plmdalsess lysrspgqpi gscsplglkl qkflvtyisl lpeeikssfl lkfirkmtsr
      481 hwcavpilfl skalanvprh kalgidglla lrdvihctmi thqillrgaa qcyllqtamn
      541 lldvekvsls dvstflmslr qeeslgrgts lwtelcdwlr vnesyfkpsp tcssiglhkt
      601 slnayvksiv qeyvkssawe tgencfmpdw feaklvslmv llavdvegmk tqysgkqrte
      661 nvlrifldpl ldvlmkfstn aympllktdr clqlllklln tcrlkgssaq ddevstvlqn
      721 ffmsttesis efilrrltmn elnsvsdldr chlylmvlte linlhlkvgw krgnpiwrvi
      781 sllknasiqh lqemdsgqep tvgsqiqrvv smaalamvce aidqkpelql dslhagples
      841 flsslqlnqt lqkphaeeqs syahplecss vleessssqg wgkivaqyih dqwvclsfll
      901 kkyhtliptt gseilepflp avqmpirtlq salealtvls sdqvlpvfhc lkvlvpkllt
      961 sseslciesf dmawkiissl sntqlifwan lkafvqfvfd nkvltiaaki kgqayfkike
     1021 imykiiemsa iktgvfntli syccqswivs asnvsqgsls saknyselil eacifgtvfr
     1081 rdqstkredh yvricavkfl clldgsnmsh klfiedlaik lldkdelvsk skkryyvnsl
     1141 qhrvknrvwq tllvlfprld qnflngiidr ifqagftnnq asikyfiewi iililhkfpq
     1201 flpkfwdcfs ygeenlktsi ctflavlshl diitqnipek klilkqaliv vlqwcfnhnf
     1261 svrlyalval kklwtvckvl sveefdaltp viesslhqve smhgagnakk nwqriqehff
     1321 fatfhplkdy cletifyilp rlsgliedew itidkftrft dvplaagfqw ylsqtqlskl
     1381 kpgdwsqqdi gtnlveadnq aewtdvqkki ipwnsrvsdl dlellfqdra arlgksisrl
     1441 ivvaslidkp tnlgglcrtc evfgasvlvv gslqcisdkq fqhlsvsaeq wlplvevkpp
     1501 qlidylqqkk tegytiigve qtaksldltq ycfpekslll lgneregipa nliqqldvcv
     1561 eipqqgiirs lnvhvsgall iweytrqqll shgdtkp
//
LOCUS       XP_047285080             698 aa            linear   PRI 20-MAR-2023
DEFINITION  T-box transcription factor TBX15 isoform X1 [Homo sapiens].
ACCESSION   XP_047285080
VERSION     XP_047285080.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429124.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..698
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..698
                     /product="T-box transcription factor TBX15 isoform X1"
                     /calculated_mol_wt=76110
     Region          170..367
                     /region_name="T-box_TBX15-like"
                     /note="DNA-binding domain of T-box transcription factor 15
                     and related T-box proteins; cd20198"
                     /db_xref="CDD:410324"
     Site            order(203..204,237,283,286,299..300,344..347,352,355..356,
                     359..365)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410324"
     CDS             1..698
                     /gene="TBX15"
                     /gene_synonym="TBX14"
                     /coded_by="XM_047429124.1:219..2315"
                     /db_xref="GeneID:6913"
                     /db_xref="HGNC:HGNC:11594"
                     /db_xref="MIM:604127"
ORIGIN      
        1 mqsleiakgr grpggrsagr eshglevtgf agnfekapsl llkflavlac hlsigslqqe
       61 pgtgeaqpsv ravgkesicg vrgpswntpe elalnpalrr pplalkapvs psppgragrr
      121 krslnfqlqd pdseqstgsd sevltertsc sfsthtdlas gaagpvpaam ssmeeiqvel
      181 qcadlwkrfh digtemiitk agrrmfpamr vkitgldphq qyyiamdivp vdnkryryvy
      241 hsskwmvagn adspvpprvy ihpdslasgd twmrqvvsfd klkltnneld dqghiilhsm
      301 hkyqprvhvi rkdfssdlsp tkpvpvgdgv ktfnfpetvf ttvtayqnqq itrlkidrnp
      361 fakgfrdsgr nrtgleaime tyafwrppvr tltfedfttm qkqqaskkts qgytvnqhss
      421 etdaielyer rvwlmerrgs tgtspttsst gtpspsassh llspscsppt fhlapntfnv
      481 gcresqlcnl nlsdyppcar snmaalqsyp glsdsgynrl qsgttsatqp setfmpqrtp
      541 slisgiptpp slpgnskmea yggqlgsfpt sqfqyvmqag naasssssph mfggshmqqs
      601 synafslhnp ynlygynfpt sprlaaspek lsasqstllc sspsngafge rqylpsgmeh
      661 smhmispspn nqqatntcdg rqygavpgss sqmsvhmv
//
LOCUS       XP_047286231             320 aa            linear   PRI 20-MAR-2023
DEFINITION  Fc receptor-like protein 2 isoform X10 [Homo sapiens].
ACCESSION   XP_047286231
VERSION     XP_047286231.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430275.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..320
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..320
                     /product="Fc receptor-like protein 2 isoform X10"
                     /calculated_mol_wt=35095
     Region          20..102
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          34..38
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          48..52
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          65..69
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          79..86
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          95..98
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          112..195
                     /region_name="Ig_2"
                     /note="Immunoglobulin domain; pfam13895"
                     /db_xref="CDD:433563"
     Region          127..131
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          141..145
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          163..167
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          177..182
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          191..194
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..320
                     /gene="FCRL2"
                     /gene_synonym="CD307b; FCRH2; IFGP4; IRTA4; SPAP1; SPAP1A;
                     SPAP1B; SPAP1C"
                     /coded_by="XM_047430275.1:60..1022"
                     /db_xref="GeneID:79368"
                     /db_xref="HGNC:HGNC:14875"
                     /db_xref="MIM:606509"
ORIGIN      
        1 mllwsllvif davteqadsl tlvapssvfe gdsivlkcqg eqnwkiqkma yhkdnkelsv
       61 fkkfsdfliq savlsdsgny fcstkgqlfl wdktsnivki kvqgipisnv sleirapggq
      121 vtegqklill csvaggtgnv tfswyreatg tsmgkktqrs lsaeleipav kesdagkyyc
      181 radnghvpiq skvvnipvrr pdgyrrdlmt agvlwglfgv lgftgvalll yalfhkisge
      241 ssatneprga srpnpqefty ssptpdmeel qpvyvnvgsv dvdvvysqvw smqqpessan
      301 irtllenkds qviyssvkks
//
LOCUS       XP_011537959             494 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA polymerase lambda isoform X9 [Homo sapiens].
ACCESSION   XP_011537959
VERSION     XP_011537959.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011539657.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..494
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..494
                     /product="DNA polymerase lambda isoform X9"
                     /calculated_mol_wt=54288
     Region          <18..37
                     /region_name="BRCT"
                     /note="C-terminal domain of the breast cancer suppressor
                     protein (BRCA1) and related domains; cl00038"
                     /db_xref="CDD:444666"
     Region          167..492
                     /region_name="NT_POLXc"
                     /note="Nucleotidyltransferase (NT) domain of family X DNA
                     Polymerases; cd00141"
                     /db_xref="CDD:143386"
     Site            order(251,253,255..260,263,284,298,328..329,332,334,
                     336..339,341,391,393,407,409,424..429,432,448)
                     /site_type="active"
                     /db_xref="CDD:143386"
     Site            order(251,253,255..260,263,284,328,332,338..339,341,391,
                     393,407,409,424..429,432)
                     /site_type="other"
                     /note="primer binding site [nucleotide binding]"
                     /db_xref="CDD:143386"
     Site            order(298,328..329,332,334,336..339,341,391,409,424..427,
                     429,432,448)
                     /site_type="other"
                     /note="NTP binding site [chemical binding]"
                     /db_xref="CDD:143386"
     Site            order(339,341,409)
                     /site_type="metal-binding"
                     /note="metal binding triad [ion binding]"
                     /db_xref="CDD:143386"
     CDS             1..494
                     /gene="POLL"
                     /gene_synonym="BETAN; POLKAPPA"
                     /coded_by="XM_011539657.2:602..2086"
                     /db_xref="GeneID:27343"
                     /db_xref="HGNC:HGNC:9184"
                     /db_xref="MIM:606343"
ORIGIN      
        1 mdyeralrll rlpqlppgaq lvksawlslc lqerrlvdva gfsifipsry ldhpqpskae
       61 qdasippgth eallqtalsp pppptrpvsp pqkakeapnt qaqpisddea sdgeetqvsa
      121 adlealisgh yptslegdce pspapavldk wvcaqpssqk atnhnlhite klevlakays
      181 vqgdkwralg yakainalks fhkpvtsyqe acsipgigkr maekiieile sghlrkldhi
      241 sesvpvlelf sniwgagtkt aqmwyqqgfr sledirsqas lttqqaiglk hysdflermp
      301 reeateieqt vqkaaqafns gllcvacgsy rrgkatcgdv dvlithpdgr shrgifsrll
      361 dslrqeavps vgpgfltddl vsqeengqqq kylgvcrlpg pgrrhrrldi ivvpysefac
      421 allyftgsah fnrsmralak tkgmslseha lstavvrnth gckvgpgrvl ptptekdvfr
      481 llglpyrepa erdw
//
LOCUS       XP_047281961              70 aa            linear   PRI 20-MAR-2023
DEFINITION  BBSome-interacting protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047281961
VERSION     XP_047281961.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426005.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..70
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..70
                     /product="BBSome-interacting protein 1 isoform X2"
                     /calculated_mol_wt=8048
     Region          1..63
                     /region_name="BBIP10"
                     /note="Cilia BBSome complex subunit 10; pfam14777"
                     /db_xref="CDD:434202"
     CDS             1..70
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /coded_by="XM_047426005.1:247..459"
                     /db_xref="GeneID:92482"
                     /db_xref="HGNC:HGNC:28093"
                     /db_xref="MIM:613605"
ORIGIN      
        1 maevksmfre vlpkqgplfv edimtmvlck pkllplkslt leklekmhqa aqntirqqem
       61 aekdqrqith
//
LOCUS       XP_047282017            1483 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 518A isoform X1 [Homo sapiens].
ACCESSION   XP_047282017
VERSION     XP_047282017.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426061.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1483
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1483
                     /product="zinc finger protein 518A isoform X1"
                     /calculated_mol_wt=166651
     Region          121..143
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Site            order(126,128,130,133..134,137..138,142,157,159..161,
                     163..164,168,171)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275370"
     Region          152..172
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Region          179..201
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          209..229
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(214,216,218,220..221,224..225,228,241,243,247..248,
                     251..252,255,269,271,273,275..276,279..280)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          236..256
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          264..281
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..1483
                     /gene="ZNF518A"
                     /gene_synonym="ZNF518"
                     /coded_by="XM_047426061.1:875..5326"
                     /db_xref="GeneID:9849"
                     /db_xref="HGNC:HGNC:29009"
                     /db_xref="MIM:617733"
ORIGIN      
        1 mpseqkqlfc dekqttlkkd ydvkneivdr sapkpkisgs ihyalknvki dlpkinipne
       61 vllkhevdky rklfqskqqt arksisiktv scveectllh kseraeeegv kmsakilnfs
      121 clkcrdntry spndlqkhfq mwhhgelpsy pcemcnfsan dfqvfkqhrr thrstlvkcd
      181 icnnesvytl lnltkhftst hcvngnfqce kckfstqdvg tfvqhihrhn eihykcgkch
      241 hvcftkgelq khlhihsgtf pftcqycsyg atrrehlvrh vitlhkehly akeklekdky
      301 ekrmaktsag lklilkryki gasrktfwkr kkinsgsdrs iekntqvlkk mnktqtksed
      361 qshvvqehls eekderlhce nndkapeses ekptplstgq gnraeegpna ssgfmktavl
      421 gptlknvmmk nnklavspny natfmgfkmm dgkqhivlkl vpikqnvcsp gsqsgaakdg
      481 tanlqpqtld tngfltgvtt elndtvymka atpfscsssi lsgkasseke mtlisqrnnm
      541 lqtmdyeksv sslsatselv tasvnlttkf etrdnvdfwg nhltqshpev lgttikspdk
      601 vncvakpnay nsgdmhnyci nygncelpve ssnqgslpfh nyskvnnsnk rrrfsgtavy
      661 enpqressss ktvvqqpise sflslvrqes skpdsllasi sllndkdgtl kakseieeqy
      721 vlekgqnidg qnlysnenqn lecatekskw edfsnvdspm mpritsvfsl qsqqaseflp
      781 pevnqllqdv lkikpdvkqd ssntpnkglp lhcdqsfqkh eregkivess kdfkvqgifp
      841 vppgsvginv ptndlnlkfg kekqvssipq dvrdsekmpr isgfgtllkt qsdaiitqql
      901 vkdklrattq nlgsfymqsp llnseqkkti ivqtskgfli plnitnkpgl pvipgnalpl
      961 vnsqgipasl fvnkkpgmvl tlnngklegv savktegapa rgtvtkepck tpilkvepnn
     1021 ncltpglcss igsclsmkss sentlplkgp yilkptssvk avlipnmlse qqstklnisd
     1081 svkqqneifp kpplytflpd gkqavflkcv mpnktellkp klvqnstyqn iqpkkpegtp
     1141 qrillkifnp vlnvtaannl svsnsasslq kdnvpsnqii ggeqkepesr dalpfllddl
     1201 mpaneivits tatcpessee picvsdcses rvlrcktncr iernfnrkkt skkifsktkt
     1261 hgskdsetaf vsrnrnckrk crdsyqeppr rkatlhrkck ekakpedvre tfgfsrprls
     1321 kdsirtlrlf pfsskqlvkc prrnqpvvvl nhpdadapev vsvmktiakf nghvlkvsls
     1381 krtinallkp vcynppktty ddfskrhktf kpvssvkerf vlkltlkkts knnyqivktt
     1441 senilkakfn cwfcgrvfdn qdtwaghgqr hlmeatrdwn mle
//
LOCUS       XP_016873900             427 aa            linear   PRI 20-MAR-2023
DEFINITION  BTB/POZ domain-containing protein 10 isoform X8 [Homo sapiens].
ACCESSION   XP_016873900
VERSION     XP_016873900.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017018411.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..427
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..427
                     /product="BTB/POZ domain-containing protein 10 isoform X8"
                     /calculated_mol_wt=48207
     Region          117..226
                     /region_name="BTB_POZ_BTBD10_GMRP1"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in BTB/POZ
                     domain-containing protein 10 (BTBD10); cd18385"
                     /db_xref="CDD:349693"
     CDS             1..427
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /coded_by="XM_017018411.2:114..1397"
                     /db_xref="GeneID:84280"
                     /db_xref="HGNC:HGNC:21445"
                     /db_xref="MIM:615933"
ORIGIN      
        1 mslhgasggh ersrdrrrss drsrdssher tesqltpcir nvtsptrqhh verekdhsss
       61 rpssprpqka spngsissag nssrnssqss sdgscktage mvfvyenake garnirtser
      121 vtlivdntrf vvdpsiftaq pntmlgrmfg sgrehnftrp nekgeyevae gigstvfrai
      181 ldyyktgiir cpdgisipel reacdylcis feystikcrd lsalmhelsn dgarrqfefy
      241 leemilplmv asaqsgerec hivvltdddv vdwdeeyppq mgeeysqiiy stklyrffky
      301 ienrdvaksv lkerglkkir lgiegyptyk ekvkkrpggr peviynyvqr pfirmsweke
      361 egksrhvdfq cvksksitnl aaaaadipqd qlvvmhptpq vdeldilpih ppsgnsdldp
      421 daqnpml
//
LOCUS       XP_006719387             955 aa            linear   PRI 20-MAR-2023
DEFINITION  pre-mRNA-processing factor 40 homolog B isoform X1 [Homo sapiens].
ACCESSION   XP_006719387
VERSION     XP_006719387.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006719324.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..955
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..955
                     /product="pre-mRNA-processing factor 40 homolog B isoform
                     X1"
                     /calculated_mol_wt=108490
     Region          173..>665
                     /region_name="PRP40"
                     /note="Splicing factor [RNA processing and modification];
                     COG5104"
                     /db_xref="CDD:227435"
     Region          717..765
                     /region_name="FF"
                     /note="Contains two conserved F residues; smart00441"
                     /db_xref="CDD:128718"
     CDS             1..955
                     /gene="PRPF40B"
                     /gene_synonym="HYPC"
                     /coded_by="XM_006719324.5:124..2991"
                     /db_xref="GeneID:25766"
                     /db_xref="HGNC:HGNC:25031"
ORIGIN      
        1 mvfetegqvl fgaaeegpqv dhrvtswsls lffddgyhfl rdvppslhlq evgmsqtkqt
       61 lgtpgslris glfgsrfwsp apssacplpt gaphdattlh apsrdpptls sdgatphese
      121 ttsypphatw hpapnastng gattthtdtr ngtsddarna dasgachrsa avagtgppra
      181 lwsehvapdg riyyynaddk qsvwekpsvl kskaelllsq cpwkeyksdt gkpyyynnqs
      241 kesrwtrpkd lddlevlvkq eaagkqqqql pqtlqpqppq pqpdpppvpp gptpvptgll
      301 epepggsedc dvleatqple qgflqqleeg psssgqhqpq qeeeeskpep ersglswsnr
      361 ekakqafkel lrdkavpsna sweqamkmvv tdprysalpk lsekkqafna ykaqrekeek
      421 eearlrakea kqtlqhfleq hermtsttry rraeqtfgel evwavvperd rkevyddvlf
      481 flakkekeqa kqlrrrniqa lksildgmss vnfqttwsqa qqylmdnpsf aqdhqlqnmd
      541 kedalicfee hiralereee eererarlre rrqqrknrea fqtfldelhe tgqlhsmstw
      601 melypavstd vrfanmlgqp gstpldlfkf yveelkarfh dekkiikdil kdrgfcvevn
      661 tafedfahvi sfdkraaald agnikltfns llekaearer erekeearrm rrreaafrsm
      721 lrqavpalel gtaweevrer fvcdsafeqi tleserirlf reflqvleqt ecqhlhtkgr
      781 khgrkgkkhh hkrshspsgs eseeeelppp slrppkrrrr npsesgseps ssldsvesgg
      841 aalggrgsps shllgadhgl rkakkpkkkt kkrrhksnsp esetdpeeka gkesdekeqe
      901 qdkdrelqqa elpnrspgfg ikkektgwdt seselsegel errrrtllqq lddhq
//
LOCUS       XP_047285253             458 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding motif, single-stranded-interacting protein 2 isoform X2
            [Homo sapiens].
ACCESSION   XP_047285253
VERSION     XP_047285253.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429297.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..458
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..458
                     /product="RNA-binding motif, single-stranded-interacting
                     protein 2 isoform X2"
                     /calculated_mol_wt=50064
     Region          32..115
                     /region_name="RRM1_MSSP2"
                     /note="RNA recognition motif 1 (RRM1) found in vertebrate
                     single-stranded DNA-binding protein MSSP-2; cd12471"
                     /db_xref="CDD:409901"
     Region          116..201
                     /region_name="RRM2_MSSP2"
                     /note="RNA recognition motif 2 (RRM2) found in vertebrate
                     single-stranded DNA-binding protein MSSP-2; cd12474"
                     /db_xref="CDD:409904"
     CDS             1..458
                     /gene="RBMS2"
                     /gene_synonym="SCR3"
                     /coded_by="XM_047429297.1:401..1777"
                     /db_xref="GeneID:5939"
                     /db_xref="HGNC:HGNC:9909"
                     /db_xref="MIM:602387"
ORIGIN      
        1 miqpyvslaq qmappspsns tpnsssgsng ndqlsktnly irglqpgttd qdlvklcqpy
       61 gkivstkail dkttnkckgy gfvdfdspsa aqkavtalka sgvqaqmakq qeqdptnlyi
      121 snlplsmdeq elegmlkpfg qvistrilrd tsgtsrgvgf armestekce aiithfngky
      181 iktppgvpap sdpllckfad ggpkkrqnqg kfvqngrawp rnadmgvmal tydpttalqn
      241 gfypapynit pnrmlaqsal spylsspvss yqrvtqtspl qvpnpswmhh hsylmqpsgs
      301 vltpgmdhpi slqpasmmgp ltqqlghlsl sstvyadgcs yarslhlpvh pcaffqcfsr
      361 geqrptepsg sgrtlrawgl ffpvqqvtvg lglekeistf lpftiadgaw gnhhffcvlh
      421 srrskklfff ckesflflta tyfsptlkrh ggrsfssi
//
LOCUS       XP_047286162            1669 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger CCCH domain-containing protein 13 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047286162
VERSION     XP_047286162.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430206.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1669
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..1669
                     /product="zinc finger CCCH domain-containing protein 13
                     isoform X3"
                     /calculated_mol_wt=196576
     Region          42..63
                     /region_name="zf-CCCH"
                     /note="Zinc finger C-x8-C-x5-C-x3-H type (and similar);
                     pfam00642"
                     /db_xref="CDD:425793"
     Region          343..>566
                     /region_name="PRK12678"
                     /note="transcription termination factor Rho; Provisional"
                     /db_xref="CDD:237171"
     CDS             1..1669
                     /gene="ZC3H13"
                     /gene_synonym="KIAA0853; Xio"
                     /coded_by="XM_047430206.1:114..5123"
                     /db_xref="GeneID:23091"
                     /db_xref="HGNC:HGNC:20368"
                     /db_xref="MIM:616453"
ORIGIN      
        1 mskirrkvtv entktisdst srrpsvferl gpstgstaet qcrnwlktgn clygntcrfv
       61 hgpsprgkgy ssnyrrsper ptgdlrermk nkrqdvdtep qkrnteesss pvrkessrgr
      121 hrekedikit kertpeseee nvewetnrdd sdngdinydy vhelslemkr qkiqrelmkl
      181 eqenmekree iiikkevspe vvrsklspsp slrksskspk rksspksssa skkdrktsav
      241 ssplldqqrn sktnqskkkg prtpsppppi pedialgkky kekykvkdri eektrdgkdr
      301 grdferqrek rdkprstspa gqhhspissr hhssssqsgs siqrhspspr rkrtpspsyq
      361 rtltpplrrs aspypshsls spqrkqsppr hrspmrekgr hdhertsqsh drrherredt
      421 rgkrdrekds reereyeqdq sssrdhrddr eprdgrdrrd ardtrdrrel rdsrdmrdsr
      481 emrdysrdtk esrdprdsrs trdahdyrdr egrdthrked typeesrsyg rnhlreessr
      541 teirnesrne srseirndrm grsrgrvpel pekgsrgsrg sqidshssns nyhdswetrs
      601 syperdrype rdnrdqards sferrhgerd rrdnrerdqr psspirhqgr ndelerderr
      661 eerrvdrvdd rrderarerd rererdrere rerererdre rekerelere rarererere
      721 kerdrerdrd rdhdrerere rerdrekere rereererer ererererer erererarer
      781 dkererqrdw edkdkgrddr rekreeired rnprdghder kskkryrneg spsprqspkr
      841 rrehspdsda ynsgddknek hrllsqvvrp qesrslspsh ltedrqgrwk eedrkperke
      901 ssrryeeqel kekvssvdkq reqteiless rmraqdiigh hqsedretsd rahdenkkka
      961 kiqkkpikkk keddvgierg niettsedgq vfspkkgqkk ksiekkrkks kgdsdisdee
     1021 aaqqskkkrg prtppittke elvemcngkn giledsqkke dtafsdwsde dvpdrtevte
     1081 aehtatattp gstpsplssl lpppppvata tattvpatla attaaaatsf stsaitists
     1141 atptnttnnt fanedshrkc hrtrvekvet phvtiedaqh rkpmdqkrss slgsnrsnrs
     1201 htsgrlrsps ndsahrsgdd qsgrkrvlhs gsrdrektks leitgerksr idqlkrgeps
     1261 rstssdrqds rshssrrssp esdrqvhsrs gsfdsrdrlq erdryehdre rererrdtrq
     1321 rewdrdadkd wprnrdrdrl rererererd krrdldrere rlisdsverd rdrdrdrtfe
     1381 ssqiesvkrc eaklegeher dlestsrdsl aldkermdkd lgsvqgfeet nksertesle
     1441 agddeskldd ahslgsgage gyepisddel deilagdaek redqqdeekm pdpldvidvd
     1501 wsglmpkhpk eprepgaall kftpgavmlr vgiskklags elfakvketc qrllekpkda
     1561 dnlfehelga lnmaallrke erasllsnlg pcckalcfrr dsairkqlvk nekgtikqay
     1621 tsapmvdnel lrlslrlfkr kttchapghe ktednklsqs siqqelcvs
//
LOCUS       XP_047287531             608 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosyl-DNA phosphodiesterase 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047287531
VERSION     XP_047287531.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431575.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..608
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..608
                     /product="tyrosyl-DNA phosphodiesterase 1 isoform X1"
                     /calculated_mol_wt=68290
     Region          166..582
                     /region_name="Tyr-DNA_phospho"
                     /note="Tyrosyl-DNA phosphodiesterase; pfam06087"
                     /db_xref="CDD:428759"
     CDS             1..608
                     /gene="TDP1"
                     /coded_by="XM_047431575.1:236..2062"
                     /db_xref="GeneID:55775"
                     /db_xref="HGNC:HGNC:18884"
                     /db_xref="MIM:607198"
ORIGIN      
        1 msqegdygrw tisssdesee ekpkpdkpst ssllcarqga aneprytcse aqkaahkrki
       61 spvkfsntds vlppkrqksg sqedlgwcls ssddelqpem pqkqaekvvi kkekdisapn
      121 dgtaqrtenh gapachrlke eedeyetsge gqdiwdmldk gnpfqfyltr vsgvkpkyns
      181 galhikdils plfgtlvssa qfnycfdvdw lvkqyppefr kkpillvhgd kreakahlha
      241 qakpyenisl cqakldiafg thhtkmmlll yeeglrvvih tsnlihadwh qktqgiwlsp
      301 lypriadgth ksgespthfk adlisylmay napslkewid vihkhdlset nvyligstpg
      361 rfqgsqkdnw ghfrlkkllk dhassmpnae swpvvgqfss vgslgadesk wlcsefkesm
      421 ltlgkesktp gkssvplyli ypsvenvrts legypaggsl pysiqtaekq nwlhsyfhkw
      481 saetsgrsna mphiktymrp spdfskiawf lvtsanlska awgalekngt qlmirsyelg
      541 vlflpsafgl dsfkvkqkff agsqepmatf pvpydlppel ygskdrpwiw nipyvkapdt
      601 hgnmwvps
//
LOCUS       XP_047289690            1770 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 90 isoform X14 [Homo sapiens].
ACCESSION   XP_047289690
VERSION     XP_047289690.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433734.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1770
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..1770
                     /product="WD repeat-containing protein 90 isoform X14"
                     /calculated_mol_wt=189426
     Region          13..190
                     /region_name="DUF667"
                     /note="Protein of unknown function (DUF667); pfam05018"
                     /db_xref="CDD:428258"
     Region          <408..752
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          422..460
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          466..514
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          520..558
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          563..615
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          633..664
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          671..706
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          707..1006
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(709,727,731,737..738,750..751,769,773,779..780,
                     792..793,810,815,828..829,842,859,877,887..888,913,917,
                     922..923,940,942,959,969..970,984..985,1003)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          713..749
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          829..872
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          898..939
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          946..983
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <993..>1138
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     Region          <1252..1648
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          1259..1300
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1306..1344
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1352..1396
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1401..1435
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1491..1532
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1537..1573
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1580..1621
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1627..1663
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..1770
                     /gene="WDR90"
                     /gene_synonym="C16orf15; C16orf16; C16orf17; C16orf18;
                     C16orf19; POC16"
                     /coded_by="XM_047433734.1:102..5414"
                     /db_xref="GeneID:197335"
                     /db_xref="HGNC:HGNC:26960"
                     /db_xref="MIM:618290"
ORIGIN      
        1 mrreprpaea ltawqhpfln vfrhfrvdew krsakqgdva vvtdktlkga vyrirgsvsa
       61 anyiqlpkss tqslgltgry lyvlfrplps khfvihldvs skdnqvirvs fsnlfkefks
      121 tatwlqfplv leartpqrdl vglapsgarw tclqldlqdv llvylnrcyg hlksirlcas
      181 llvrnlytsd lcfepaisga qwaklpvtpm premafpvpk geswhdryih vrfpseslkv
      241 pskpiekscs ppeavllgpg pqplpcpvas skpvrfsvsp vvqtpsptaq sgraalaprp
      301 fpevslsqer sdasnadgpg fhslepwaql easdihtaaa gthvlthesa evpvartgsc
      361 egflpdpvlr lkgvigfggh gtrqalwtpd gaavvypcha vivvllvdtg eqrfflghtd
      421 kvsalaldgs ssllasaqar apsvmrlwdf qtgrclclfr spmhvvcsls fsdsgallcg
      481 vgkdhhgrtm vvawgtgqvg lggevvvlak ahtdfdvqaf rvtffdetrm ascgqgsvrl
      541 wrlrggvlrs cpvdlgehha lqftdlafkq ardgcpepsa amlfvcsrsg hileidcqrm
      601 vvrharrllp trtpggphpq kqtfssgpgi aisslsvspa mcavgsedgf lrlwpldfss
      661 vlleaehegp vssvcvspdg lrvlsatssg hlgfldtlsr vyhmlarsht apvlalameq
      721 rrgqlatvsq drtvriwdla tlqqlydfts sedapcavtf hptrptffcg fssgavrsfs
      781 leaaevlveh tchrgavtgl tatpdgrllf sscsqgslaq yscadpqwhv lrvaadmvcp
      841 dapaspsala vsrdgrllaf vgpsrctvtv mgsasldell rvdigtldla ssrldsamav
      901 cfgpaalghl lvstssnrvv vldavsgrii restvfqlpg vhpepcpslt lsedarflli
      961 aagrtikvwd yatqaspgpq vyighsepvq avafspdqqq vlsagdavfl wdvlaptesd
     1021 qsfpgappac ktgpgagple daasraselp rqqvpkpcqa spprlgvcar ppeggdgtls
     1081 psdeegpcee scdpeglgqa sgppvlteee agragdgawa aavgswglal pprspgqpre
     1141 qwragqgrwc rcrglrtvga rdtrnsgapr ttylasckaf tparvscsph sakgtcpppa
     1201 sggwlrlkav vgysgngran mvwrpdtgff aytcgrlvvv edlhsgaqqh wsghsaeist
     1261 lalshsaqvl asasgrsstt ahcqirvwdv sgglcqhlif phsttvlala fspddrllvt
     1321 lgdhdgrtla lwgtatydlv sstrlpepvh gvafnpwdag eltcvgqgtv tfwllqqrga
     1381 dislqvrrep vpeavgagel tslcygappl lycgtssgqv cvwdtragrc flsweaddgg
     1441 iglllfsgsr lvsgsstgrl rlwavgavse lrckgsgars ssvfmehelv ldgavvsasf
     1501 ddsvdmgvvg ttagtlwfvs waegtstrli sghrskvnev vfspgeshca tcsedgsvrv
     1561 walasmelvi qfqvlnqscl clawsppccg rpeqqrlaag ygdgslrifs vsrtamelkm
     1621 hphpvalttv afstdgqtvl sgdkdglvav shpctgttfr vlsdhqgapi sticvtckec
     1681 edlgvegtdl wlaasgdqrv svwasdwlrn hcelvdwlsf pmpattetqg hlppslaafc
     1741 pwdgallmyv gpgvykevii ynlcqkqsac
//
LOCUS       XP_011521755             766 aa            linear   PRI 20-MAR-2023
DEFINITION  protein MTSS 2 isoform X1 [Homo sapiens].
ACCESSION   XP_011521755
VERSION     XP_011521755.3
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523453.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Mar 26, 2018 this sequence version replaced XP_011521755.2.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..766
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..766
                     /product="protein MTSS 2 isoform X1"
                     /calculated_mol_wt=81874
     Region          6..239
                     /region_name="I-BAR_IMD_MIM"
                     /note="Inverse (I)-BAR, also known as the IRSp53/MIM
                     homology Domain (IMD), of Missing In Metastasis; cd07643"
                     /db_xref="CDD:153327"
     Site            order(17..18,21,25,28..29,31..32,35..36,39,42..43,45..46,
                     50,52..53,56..57,59..60,63..64,67..68,71,74,78,85,88,187,
                     190..191,193..194,197..198,200..201,204..205,208,211..212,
                     215,218,221..222,228..229,231..239)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153327"
     Site            order(148..149,151..152)
                     /site_type="other"
                     /note="putative actin binding residues [polypeptide
                     binding]"
                     /db_xref="CDD:153327"
     Region          <301..654
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          735..765
                     /region_name="WH2_MTSS1"
                     /note="Wiskott Aldrich syndrome homology region 2 (WH2
                     motif) found in Metastasis suppressor protein 1 (MTSS-1);
                     cd22060"
                     /db_xref="CDD:409203"
     Site            order(736..738,741..743,745..747,752..761,763..764)
                     /site_type="other"
                     /note="actin-binding motif [polypeptide binding]"
                     /db_xref="CDD:409203"
     Region          752..755
                     /region_name="actin-binding sequence"
                     /note="actin-binding sequence [structural motif]"
                     /db_xref="CDD:409203"
     CDS             1..766
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /coded_by="XM_011523453.4:263..2563"
                     /db_xref="GeneID:92154"
                     /db_xref="HGNC:HGNC:25094"
                     /db_xref="MIM:616951"
ORIGIN      
        1 metaekecga lgglfqaivn dmkssypiwe dfnskatklh sqlrttvlaa vafldafqkv
       61 admatntrga trdigsaltr mcmrhrsiet klrqftnall eslinplqer iedwkkaanq
      121 ldkdhakeyk rarheikkks sdtlklqkka rkellgkgdl qpqldsalqd vndmylllee
      181 tekqavrral ieergrfctf itflqpvvng eltmlgeith lqgiiddlvv ltaephklpp
      241 aseqvikdlk gsdyswsyqt ppsspsssss rkssmcsaps ssssakggga pwpggaqtys
      301 psstcryrsl aqpatttarl ssvsshdsgf vsqdatyskp pspmpsdits qlfrsggprr
      361 tpspahcpeq kssssassea setcqsvsec ssptsdwskv gsheqpsgat lqrrkdrvel
      421 lrdtepgpas ggtlgpsgee aprprmspat iaakhgeevs paasdlamvl trglslehqk
      481 ssrdslqyss gystqtttps csedtipsqg sdydcysvng dadsegppef dksstiprns
      541 niaqnyrrli qtkrpastag lptaglptat glpsgappgv atirrtpstk ptvrralssa
      601 gpipirppiv pvktptvpds pgymgptrag seecvfytde tasplapdla kaspkrlslp
      661 ntawgspspe aagypgagae deqqqlaanr hslveklgel vagahalgeg qfpfptalsa
      721 tpteetptpp paatsdppae dmlvairrgv rlrrtvtndr sapril
//
LOCUS       XP_016879948             305 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 235 isoform X3 [Homo sapiens].
ACCESSION   XP_016879948
VERSION     XP_016879948.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017024459.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 23% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..305
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..305
                     /product="transmembrane protein 235 isoform X3"
                     /calculated_mol_wt=32000
     Region          28..222
                     /region_name="Claudin_2"
                     /note="PMP-22/EMP/MP20/Claudin tight junction; pfam13903"
                     /db_xref="CDD:372799"
     CDS             1..305
                     /gene="TMEM235"
                     /gene_synonym="ARGM1"
                     /coded_by="XM_017024459.2:218..1135"
                     /db_xref="GeneID:283999"
                     /db_xref="HGNC:HGNC:27563"
                     /db_xref="MIM:620272"
ORIGIN      
        1 marlgallla aalgallsfa llaaavasdy wyilevadag ngsawpgrae llsshsglwr
       61 icegqngcip lvdpfasesl dvstsvqhli llhravivvl plslvllvcg wicgllssla
      121 qsvslllftg cyfllgtltt crvlakcsse gssegppvpa agvltlagvs iyisyshlaf
      181 aetvqqygpq hmqgvrvsfg wsmalawgsc aleafsgtll lsaawtlsls ppicghlspq
      241 qrgrlrpraa egptqiawrq rdavsgqglp glcsvhsprr aglvekrlmr gpespsdlqg
      301 wgars
//
LOCUS       XP_016879996             630 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-independent sulfate anion transporter isoform X1 [Homo
            sapiens].
ACCESSION   XP_016879996
VERSION     XP_016879996.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017024507.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..630
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..630
                     /product="sodium-independent sulfate anion transporter
                     isoform X1"
                     /calculated_mol_wt=67478
     Region          35..583
                     /region_name="sulP"
                     /note="high affinity sulphate transporter 1; TIGR00815"
                     /db_xref="CDD:273284"
     CDS             1..630
                     /gene="SLC26A11"
                     /coded_by="XM_017024507.2:281..2173"
                     /db_xref="GeneID:284129"
                     /db_xref="HGNC:HGNC:14471"
                     /db_xref="MIM:610117"
ORIGIN      
        1 mpssvtalgq arssgpgmap sacccspaal qrrlpilawl psyslqwlkm dfvaglsvgl
       61 taipqalaya evaglppqyg lysafmgcfv yfflgtsrdv tlgptaimsl lvsfytfhep
      121 ayavllafls gciqlamgvl rlahisphpl glggagtssm splgwpgfll dfisypvikg
      181 ftsaaavtig fgqiknllgl qniprpfflq vyhtflriae trvgdavlgl vcmllllvlk
      241 lmrdhvppvh pemppgvrls rglvwaatta rnalvvsfaa lvaysfevtg yqpfiltget
      301 aeglppvrip pfsvttangt isftemvqdm gaglavvplm gllesiavak afasqnnyri
      361 danqellaig ltnmlgslvs sypvtgsfgr tavnaqsgvc tpagglvtgv lvllsldylt
      421 slfyyipksa laaviimava plfdtkifrt lwrvkrldll plcvtfllcf wevqygilag
      481 alvsllmllh saarpetkvs egpvlvlqpa sglsfpamea lreeilsral evspprclvl
      541 ecthvcsidy tvvlglgell qdfqkqgval afvglqvpvl rvllsadlkg fqyfstleea
      601 ekhlrqepgt qpyniredsi ldqkvallka
//
LOCUS       XP_047292025             162 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor MafG isoform X1 [Homo sapiens].
ACCESSION   XP_047292025
VERSION     XP_047292025.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436069.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..162
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..162
                     /product="transcription factor MafG isoform X1"
                     /calculated_mol_wt=17718
     Region          46..115
                     /region_name="bZIP_Maf_small"
                     /note="Basic leucine zipper (bZIP) domain of small
                     musculoaponeurotic fibrosarcoma (Maf) proteins: a
                     DNA-binding and dimerization domain; cd14717"
                     /db_xref="CDD:269865"
     Region          46..115
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:269865"
     Site            order(56..58,60..62,64..65,68..69,71..72)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:269865"
     Site            order(72,75..76,79..80,82..83,86..87,89..90,93,96..97,100,
                     103..104,107..108)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:269865"
     CDS             1..162
                     /gene="MAFG"
                     /gene_synonym="hMAF"
                     /coded_by="XM_047436069.1:3118..3606"
                     /db_xref="GeneID:4097"
                     /db_xref="HGNC:HGNC:6781"
                     /db_xref="MIM:602020"
ORIGIN      
        1 mttpnkgnka lkvkrepgen gtsltdeelv tmsvrelnqh lrglskeeiv qlkqrrrtlk
       61 nrgyaascrv krvtqkeele kqkaelqqev eklasenasm kleldalrsk yealqtfart
      121 varspvapar gplaaglgpl vpgkvaatsv itivksktda rs
//
LOCUS       XP_011522310             243 aa            linear   PRI 20-MAR-2023
DEFINITION  glucose-induced degradation protein 4 homolog isoform X2 [Homo
            sapiens].
ACCESSION   XP_011522310
VERSION     XP_011522310.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011524008.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..243
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..243
                     /product="glucose-induced degradation protein 4 homolog
                     isoform X2"
                     /calculated_mol_wt=26640
     Region          121..>236
                     /region_name="Vac_ImportDeg"
                     /note="Vacuolar import and degradation protein; pfam09783"
                     /db_xref="CDD:430822"
     CDS             1..243
                     /gene="GID4"
                     /gene_synonym="C17orf39; VID2; VID24"
                     /coded_by="XM_011524008.2:58..789"
                     /db_xref="GeneID:79018"
                     /db_xref="HGNC:HGNC:28453"
                     /db_xref="MIM:617699"
ORIGIN      
        1 mcargqvgrg tqlrtgrpcs qvpgsrwrpe rllrrqragg rpsrphpara rpglslpatl
       61 lgsraaaavp lplppalapg dpampvrtec pppagasaas aaslippppi ntqqpgvats
      121 llysgskfrg hqkskgnsyd vevvlqhvdt gnsylcgylk ikglteeypt lttffegeii
      181 skkhpfltrk wdadedvdrk hwgkflafyq yaksfnsddf dyeelkngdy vfmrwknlve
      241 pps
//
LOCUS       XP_047292778             409 aa            linear   PRI 20-MAR-2023
DEFINITION  protein DBF4 homolog B isoform X18 [Homo sapiens].
ACCESSION   XP_047292778
VERSION     XP_047292778.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436822.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..409
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..409
                     /product="protein DBF4 homolog B isoform X18"
                     /calculated_mol_wt=43821
     Region          47..>93
                     /region_name="BRCT"
                     /note="BRCA1 C-terminus (BRCT) domain; pfam00533"
                     /db_xref="CDD:425736"
     Region          <214..301
                     /region_name="DBF4"
                     /note="Protein kinase essential for the initiation of DNA
                     replication [DNA replication, recombination, and repair /
                     Cell division and chromosome partitioning]; COG5067"
                     /db_xref="CDD:227399"
     Region          260..301
                     /region_name="zf-DBF"
                     /note="DBF zinc finger; pfam07535"
                     /db_xref="CDD:429520"
     CDS             1..409
                     /gene="DBF4B"
                     /gene_synonym="ASKL1; CHIFB; DRF1; ZDBF1B"
                     /coded_by="XM_047436822.1:157..1386"
                     /db_xref="GeneID:80174"
                     /db_xref="HGNC:HGNC:17883"
                     /db_xref="MIM:611661"
ORIGIN      
        1 msepgkgddc lelessmaes rlrapdlgvs rclgkcqkns pgarkhpfsg ksfyldlpag
       61 knlqfltgai qqlggviegf lskevsyivs srrevkaess gkshrgcpsp spsevrvets
      121 amvdpkgshp rpsrkpvdsv plsrgkellq kairnqgsis gggsggsssl ltnarswgvr
      181 ilhvdemmmh vqqlslaslc vkkqqpkkpe gtcpaaesrt rkvarlkapf lkiedesres
      241 kdgepsprsa ahtmprrkkg yceccqeafe elhvhlqsaq hrsfaleahl yaevdriiaq
      301 lshsfadipf qaglpsdprq gcgpaamdri trwcdgtsck shmcechnpp aglaqglqga
      361 glplslpsll ypvssghflg saawgvvacr ghappslprk llcpgghsc
//
LOCUS       XP_047293959             379 aa            linear   PRI 20-MAR-2023
DEFINITION  putative zinc finger protein 730 isoform X5 [Homo sapiens].
ACCESSION   XP_047293959
VERSION     XP_047293959.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438003.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..379
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..379
                     /product="putative zinc finger protein 730 isoform X5"
                     /calculated_mol_wt=44240
     Region          51..71
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          79..98
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          106..126
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(111,113,115,117..118,121..122,125,139,141,145..146,
                     149..150,153,167,169,171,173..174,177..178,181)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          <116..374
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          134..154
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          162..182
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          190..210
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          218..238
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          247..266
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          274..294
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(279,281,283,285..286,289..290,293,307,309,313..314,
                     317..318,321,335,337,339,341..342,345..346,349)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          302..322
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          330..350
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          358..378
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..379
                     /gene="ZNF730"
                     /coded_by="XM_047438003.1:272..1411"
                     /db_xref="GeneID:100129543"
                     /db_xref="HGNC:HGNC:32470"
ORIGIN      
        1 mhkkgynrhn qclttshski fqcdkyvkvf hkfsnsnrhk irhtskkpfk ckecgklfci
       61 lshlaqhkki htgeksykce eygkafness nctthkrite kkpykckecg kafnwfshft
      121 thkrihtgek pyqcekcgkf fnqstnltth krihtgekpy kceecgkafn qssnltehkk
      181 ihtkeqpykc ekcgkafkws stltkhkrih ngekpykcee cgkafnrsst lnrhkithtg
      241 gkpykykecg kafnqsstlt ihkiihtvek fykceecgka fsrishltth krihtgekpy
      301 kceecgrafn qsstltthkr ihtgekpyec eecgkafnrs stltthkiih sgekiykcke
      361 cgkafrrfsh ltrhktiht
//
LOCUS       XP_011524788             552 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane channel-like protein 4 isoform X1 [Homo sapiens].
ACCESSION   XP_011524788
VERSION     XP_011524788.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011526486.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..552
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..552
                     /product="transmembrane channel-like protein 4 isoform X1"
                     /calculated_mol_wt=61129
     Region          315..425
                     /region_name="TMC"
                     /note="TMC domain; pfam07810"
                     /db_xref="CDD:429672"
     CDS             1..552
                     /gene="TMC4"
                     /coded_by="XM_011526486.3:44..1702"
                     /db_xref="GeneID:147798"
                     /db_xref="HGNC:HGNC:22998"
                     /db_xref="MIM:617181"
ORIGIN      
        1 meenptlese awgssrewla preargapcs spgpslssvl nelpsaatlr yrdpgvlpwg
       61 aleeeeedgg rsrkaftevt qtelqdphps relpwpmqar rahrqrnasr dqvvygsgtk
      121 tdrwarllrr skektkeglr slqpwawtlk riggqfgagt esyfsllrfl lllnvlasvl
      181 macmtllptw lggappgppg pdisspcgsy nphsqglvtf atqlfnllsg egylewsplf
      241 ygfypprprl avtylcwafa vgliclllil hrtvflrlas lvvllfslwn qitcggdsea
      301 edcktcgyny kqlpcwetvl gqemyklllf dlltvlaval liqfprkllc glcpgalgrl
      361 agtqefqvpd evlgliyaqt vvwvgsffcp llpllntvkf lllfylkklt lfstcspaar
      421 tfrasaanff fplvlllgla issvpllysi flippsklcg pfrgqssiwa qipesisslp
      481 ettqnflffl gtqafavpll lissilmayt valansygrl iselkrqret eaqnkvflar
      541 ravaltstkp al
//
LOCUS       XP_006722769            1361 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 18 isoform X3 [Homo
            sapiens].
ACCESSION   XP_006722769
VERSION     XP_006722769.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006722706.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1361
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..1361
                     /product="rho guanine nucleotide exchange factor 18
                     isoform X3"
                     /calculated_mol_wt=151512
     Region          296..>325
                     /region_name="C1"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     superfamily; cl00040"
                     /db_xref="CDD:412127"
     Region          448..642
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(454,458,565,593..594,597..598,600..601,604..605,
                     608..609,612,638,642)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          682..800
                     /region_name="PH_ARHGEF18"
                     /note="Rho guanine nucleotide exchange factor 18
                     Pleckstrin homology (PH) domain; cd15794"
                     /db_xref="CDD:275437"
     Region          <994..>1128
                     /region_name="DUF5401"
                     /note="Family of unknown function (DUF5401); pfam17380"
                     /db_xref="CDD:375164"
     Region          1084..>1228
                     /region_name="PRK13729"
                     /note="conjugal transfer pilus assembly protein TraB;
                     Provisional"
                     /db_xref="CDD:184281"
     CDS             1..1361
                     /gene="ARHGEF18"
                     /gene_synonym="P114-RhoGEF; p114RhoGEF; RP78; SA-RhoGEF"
                     /coded_by="XM_006722706.4:579..4664"
                     /db_xref="GeneID:23370"
                     /db_xref="HGNC:HGNC:17090"
                     /db_xref="MIM:616432"
ORIGIN      
        1 mgddqeddfp rrlsesmedl sldlgalqgs eylqdlglga pshsqpgetp dsrptgeepg
       61 rdslfsslag sqdlsrrrsw ersrscsesw rrlsldasav deepclprtl aslalnlpgg
      121 glktwtqgcl sgggtpaesp gkecdspkkr grsrsvpvsf yeirspeisp glevptppvq
      181 gleppvlecm ekdhvepdhv livqqvlqel rqyhgarqra cmsaspggah snltwfefls
      241 esedgagkne ksdkstsvkr rlsclrsrvt rqkekgkspa hlkdkgqdar errecvnghq
      301 llqgtfsgps scplcgkpfl ssaslkehpr gtllsdgspa lsrnvgmtvs qkggpqptps
      361 pagpgtqlgp itgemdeads aflkfkqtad dslsltspnt esifvedpyt aslrseiesd
      421 ghefeaesws lavdaayakk qkrevvkrqd vlyelmqtev hhvrtlkiml kvysralqee
      481 lqfsskaigr lfpcaddlle thshflarlk errqesleeg sdrnyviqki gdllvqqfsg
      541 engermkeky gvfcsghnea vshyklllqq nkkfqnlikk ignfsivrrl gvqecillvt
      601 qritkypvlv eriiqnteag tedyedltqa lnlikdiisq vdakvsecek gqrlreiagk
      661 mdlksssklk ngltfrkedm lqrqlhlegm lcwkttsgrl kdilailltd vllllqekdq
      721 kyvfasvdsk ppvislqkli vrevaneeka mflisaslqg pemyeiytss kedrnawmah
      781 iqravescpd eeegpfslpe eerkvveara trlrdfqerl smkdqliaqs llekqqiyle
      841 maemggledl pqprglfrgg dpsetlqgel ilksamseie giqslicrql gsangqaedg
      901 gsstgpprra etfagydctn sptkngsfkk kvsstdprpr dwrgppnspd lklsdsdipg
      961 sseespqvve apgtesdprl ptvleselvq riqtlsqlll nlqaviahqd syvetqraai
     1021 qerekqfrlq strgnllleq erqrnfekqr eeraaleklq sqlrheqqrw ererqwqhqe
     1081 leragarlqe regearqlre rleqeraele rqrqayqhdl erlreaqrav erererlell
     1141 rrlkkqntap galppdtlae aqppshppsf ngeglegprv smlpsgvgpe yaerpevarr
     1201 dsaptenrla ksdvpiqlls atnqfqrqaa vqqqiptkla astkggkdkg gksrgsqrwe
     1261 ssasfdlkqq lllnklmgkd estsrnrrsl spilpgrhsp apppdpgfpa pspppadsps
     1321 egfslkaggt allpgppaps plpatplsak edaskedvif f
//
LOCUS       XP_047299349             422 aa            linear   PRI 20-MAR-2023
DEFINITION  flagellum-associated coiled-coil domain-containing protein 1
            isoform X3 [Homo sapiens].
ACCESSION   XP_047299349
VERSION     XP_047299349.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443393.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..422
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..422
                     /product="flagellum-associated coiled-coil
                     domain-containing protein 1 isoform X3"
                     /calculated_mol_wt=49343
     Region          <113..393
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..422
                     /gene="FLACC1"
                     /gene_synonym="ALS2CR12"
                     /coded_by="XM_047443393.1:308..1576"
                     /db_xref="GeneID:130540"
                     /db_xref="HGNC:HGNC:14439"
                     /db_xref="MIM:619796"
ORIGIN      
        1 mypnpliyct cwdpwnlgpr kliktpqlpr knstgssklt plvpapknhn ylqptkpvvs
       61 pkmkihsarq eetnksfyev invspgyqlv rnreqisvtl gdemfdrkkr weseipdkgr
      121 fsrtniisdl eeqiseltai ieqmnrdhqs aqkllssemd lrcaemkqnf enknrelkea
      181 heaelselen nykaalkaek laaqekleem gkeykylknm frtyqdsiyd emeekwskqk
      241 akwkkdekfe renillqqkk kmtkkfemes geedkkines csavfenfiq ekeellkqhq
      301 sdtlqleelr ktkevmqeel haqalilesl ntnlyytqle lqkekaivgn lekmlqtkfa
      361 eteekykhti qilteenihl kqkiisknee icegcsgrla sitvskddsd tvqdgskkgq
      421 es
//
LOCUS       XP_047299528             867 aa            linear   PRI 20-MAR-2023
DEFINITION  TOG array regulator of axonemal microtubules protein 2 isoform X5
            [Homo sapiens].
ACCESSION   XP_047299528
VERSION     XP_047299528.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443572.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..867
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..867
                     /product="TOG array regulator of axonemal microtubules
                     protein 2 isoform X5"
                     /calculated_mol_wt=94482
     Region          503..671
                     /region_name="CLASP_N"
                     /note="CLASP N terminal; pfam12348"
                     /db_xref="CDD:432496"
     CDS             1..867
                     /gene="TOGARAM2"
                     /gene_synonym="FAM179A"
                     /coded_by="XM_047443572.1:352..2955"
                     /db_xref="GeneID:165186"
                     /db_xref="HGNC:HGNC:33715"
ORIGIN      
        1 mgtrddvpea kvlvpvavyc gsiprtsagp rvlppgsins slphgegslq peprallnne
       61 epsqllrglg qlgglkldtp skgwqarngh prnlralslg dqplvllpsp eseansvard
      121 tiqikdklkk rrlseglaas srasldpggg pqgvplhsti pratsqrllr vprpmpliqs
      181 ipttpeasgv kekgldlpgs ipgphelrpg aqeaqiswqy lhcndekmqk slgaivippi
      241 pkartvaatp srvpgslpsp lppgqgvltg lraprtrlar gsgprektpa slepkplasp
      301 irdrpaaakk palpfsqsap tltafsfdca reacpplkee dqkeigtkiq vtisksarek
      361 mqlkqmkeme llrrleeprt gqeltsqclg sqrafmkegl lplrgsgtls vptrlsgpcr
      421 ndvsiilrkw asraslpsip isrqeprfar hasanslpav ltlgspewee eeemdlrack
      481 elrpfsnpel glrdalqcln ssdwqmkekg lvsiqrlaac hsevltgklh dvclvvtgev
      541 tnlrskvshl aistlgdlfq alkknmdqea eeiarcllqk madtnefiqr aagqslramv
      601 envtlarslv vltsagvyhr nplirkyaae hlsavleqig aekllsgtrd stdmlvhnlv
      661 rlaqdsnqdt rfygrkmvni lmantkfdaf lkqslpsydl qkvmaaikqq giedndelps
      721 akgrkvlrsl vvcenglpik eglscngprl vglrstlqgr gemveqlrel trlleakdfr
      781 srmegvgqll elckaktelv tahlvqasgf qqesepvgag vlrqddpppq reltphaalh
      841 hhhccrqpql qelrdlrccr gcagcdg
//
LOCUS       XP_047296043             426 aa            linear   PRI 20-MAR-2023
DEFINITION  lysophosphatidylserine lipase ABHD12 isoform X1 [Homo sapiens].
ACCESSION   XP_047296043
VERSION     XP_047296043.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440087.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..426
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..426
                     /product="lysophosphatidylserine lipase ABHD12 isoform X1"
                     /calculated_mol_wt=46847
     Region          165..343
                     /region_name="Hydrolase_4"
                     /note="Serine aminopeptidase, S33; pfam12146"
                     /db_xref="CDD:432361"
     CDS             1..426
                     /gene="ABHD12"
                     /gene_synonym="ABHD12A; BEM46L2; C20orf22; dJ965G21.2;
                     hABHD12; PHARC"
                     /coded_by="XM_047440087.1:133..1413"
                     /db_xref="GeneID:26090"
                     /db_xref="HGNC:HGNC:15868"
                     /db_xref="MIM:613599"
ORIGIN      
        1 mrkrtepval ehercaaags sssgsaaaal dadcrlkqnl rltgpaaaep rcaadagmkr
       61 algrrkgvwl rlrkilfcvl glyiaipfli klcpgiqakl iflnfvrvpy fidlkkpqdq
      121 glnhtcnyyl qpeedvtigv whtvpavwwk naqgkdqmwy edalasshpi ilylhgnagt
      181 rggdhrvely kvlsslgyhv vtfdyrgwgd svgtpsergm tydalhvfdw ikarsgdnpv
      241 yiwghslgtg vatnlvrrlc eretppdali lespftnire eakshpfsvi yryfpgfdwf
      301 fldpitssgi kfandenvkh iscpllilha eddpvvpfql grkvgpglcl wcswhlahsa
      361 svggpgwewa ggkaapacci tgcapatsgs gghlilpasp pgcfgrtwev wckgwgrgpl
      421 mlspri
//
LOCUS       XP_016884503            2609 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-XVIIIb isoform X4 [Homo sapiens].
ACCESSION   XP_016884503
VERSION     XP_016884503.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029014.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2609
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..2609
                     /product="unconventional myosin-XVIIIb isoform X4"
                     /calculated_mol_wt=289799
     Region          <263..555
                     /region_name="2A1904"
                     /note="K+-dependent Na+/Ca+ exchanger; TIGR00927"
                     /db_xref="CDD:273344"
     Region          552..2128
                     /region_name="COG5022"
                     /note="Myosin heavy chain [General function prediction
                     only]"
                     /db_xref="CDD:227355"
     Region          627..1364
                     /region_name="MYSc_Myo18"
                     /note="class XVIII myosin, motor domain; cd01386"
                     /db_xref="CDD:276837"
     Site            order(655,662,702..709,748..758,987..992)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276837"
     Site            order(655,662)
                     /site_type="other"
                     /note="purine-binding loop"
                     /db_xref="CDD:276837"
     Site            702..709
                     /site_type="other"
                     /note="P-loop"
                     /db_xref="CDD:276837"
     Site            748..758
                     /site_type="other"
                     /note="switch I region"
                     /db_xref="CDD:276837"
     Site            987..992
                     /site_type="other"
                     /note="switch II region"
                     /db_xref="CDD:276837"
     Site            order(1022..1033,1036..1045)
                     /site_type="active"
                     /note="relay loop [active]"
                     /db_xref="CDD:276837"
     Site            1291..1300
                     /site_type="other"
                     /note="SH1 helix"
                     /db_xref="CDD:276837"
     Site            order(1303..1321,1334..1364)
                     /site_type="other"
                     /note="converter subdomain"
                     /db_xref="CDD:276837"
     CDS             1..2609
                     /gene="MYO18B"
                     /gene_synonym="KFS4"
                     /coded_by="XM_017029014.2:216..8045"
                     /db_xref="GeneID:84700"
                     /db_xref="HGNC:HGNC:18150"
                     /db_xref="MIM:607295"
ORIGIN      
        1 maissrlalw eqkireedks pppssppplf svipggfikq lvrgtekeak earqrkqlav
       61 asperevete akrgqvifpr ssdqieaerg gepvcsllsq dawkrtslip eisisqpnsk
      121 sssgtrsgsq qisqddqsss pgssdilgke segsrspdpe qmtsingeka qelgssatpt
      181 kktvpfkrgv rrgdvllmva kldpdsakpe kthphdappc ktsppatdtg kekkgetsrt
      241 pcgsqastei lapkaektrt gglgdpgqgt valkkgeegq sivgkglgtp kttelkeaep
      301 qgkdrqgtrp qaqgpgegvr pgkaekegae ptntvekgnv skdvgsegkh vrpqipgrkw
      361 ggflgrrskw dgpqnkkdke gvllskaekt gepqtqmekt sqvqgelgdd lrmgekagel
      421 rsttgkages wdkkekmgqp qgksgnagea rsqtekgcea pkevstmves paapgkggwp
      481 gsrgqeaeep csragdgaga letelegpsq palekdaerp rirkenqdgp apqeegkggq
      541 srdsdqaped rwyeaekvwl aqkdgftlat vlkpdegtad lpagrvrlwi dadktitevd
      601 eehvhranpp eldqvedlas lisvnessvl ntllqrykaq llhtctgpdl ivlqprgpsv
      661 psagkvpkgr rdglpahigs maqraywall nqrrdqsiva lgwsgagktt cceqvlehlv
      721 gmagsvdgrv svekiratft vlrafgsvsm ahsrsatrfs mvmsldfnat gritaaqlqt
      781 mlleksrvar qpegesnflv fsqmlagldl dlrtelnlhq madsssfgmg vwskpedkqk
      841 aaaafaqlqg amemlgises eqravwrvla aiyhlgaaga ckvgrkqfmr fewanyaaea
      901 lgceyeelnt atfkhhlrqi iqqmtfgpsr wgledeetss glkmtgvdcv egmasglyqe
      961 lfaavvslin rsfsshhlsm asimvvdspg fqnprhqgkd raatfeelch nyaherlqll
     1021 fyqrtfvstl qryqeegvpv qfdlpdpspg ttvavvdqnp sqqvrlpagg gaqdarglfw
     1081 vldeevhveg ssdsvvlerl caafekkgag tegssalrtc eqplqceifh qlgwdpvryd
     1141 ltgwlhrakp nlsaldapqv lhqskreelr slfqaraklp pvcravagle gtsqqalqrs
     1201 rmvrrtfass laavrrkapc sqiklqmdal tsmikrsrlh fihclvpnpv vesrsgqesp
     1261 pppqpgrdkp gaggplaldi palrvqlagf hilealrlhr tgyadhmglt rfrrqfqvld
     1321 apllkklmst segiderkav eelletldle kkavavghsq vflkagvisr lekqreklvs
     1381 qsivlfqaac kgflsrqefk klkirrlaaq ciqknvavfl avkdwpwwql lgslqpllsa
     1441 tigteqlrak eeelttlrrk lekseklrne lrqntdlles kiadltsdla derfkgdvac
     1501 qvleseraer lqafrevqel kskheqvqkk lgdvnkqlee aqqkiqlndl ernptggdew
     1561 qmrfdcaqme neflrkrlqq ceerldselt arkeleqklg elqsaydgak kmahqlkrkc
     1621 hhltcdledt cvllenqqsr nhelekkqkk fdlqlaqalg esvfekglre kvtqentsvr
     1681 welgqlqqql kqkeqeasql kqqvemlqdh krellgspsl gencvaglke rlwklessal
     1741 eqqkiqsqqe ntikqleqlr qrfeleierm kqmhqkdred qeeeledvrq scqkrlhqle
     1801 mqleqeyeek qmvlhekqdl egligtlcdq ighrdfdvek rlrrdlrrth allsdvqlll
     1861 gtmedgktsv skeelekvhs qleqseakce ealktqkvlt adlesmhsel enmtrnkslv
     1921 deqlyrlqfe kadllkride dqddlnelmq khkdliaqsa adigqiqelq lqleeakkek
     1981 hklqeqlqva qmrieyleqs tvdraivsrq eavicdlenk tefqkvqikr fevlvirlrd
     2041 slikmgeels qaatsesqqr essqyyqrrl eelkadmeel vqreaeasrr cmelekyvee
     2101 laavrqtlqt dletsirria dlqaaleeva ssdsdtesvq tavdcgssgr kemdnvsils
     2161 sqpegslqsw lsctlslatd tmrtpsrqsa tssrilspri neeagdtert qsalalsrar
     2221 stnvhsktsg dkpvsphfvr rqkychfgdg evlavqrkst erlepasspl asrstntspl
     2281 sreklpspsa alsefveglr rkraqrgqgs tlgledwptl piyqttgast lrrgragsde
     2341 gnlslrvgak spleiegaag gllrstslkc issdgvggtt llpeksktqf sscesllesr
     2401 psmgrklssp ttprdmllsp tlrprrrcle ssvddagcpd lgkeplvfqn rqfahlmeep
     2461 lgsdpfswkl psldyerktk vdfddflpai rkpqtptsla gsakggqdgs qrssihfete
     2521 eanrsflsgi ktilkkspep kedpahlsds ssssgsivsf ksadsiksrp giprlagdgg
     2581 ertsperrep gtgrkdddva simkkylqk
//
LOCUS       XP_047305715             374 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane anterior posterior transformation protein 1 homolog
            isoform X6 [Homo sapiens].
ACCESSION   XP_047305715
VERSION     XP_047305715.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449759.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..374
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..374
                     /product="transmembrane anterior posterior transformation
                     protein 1 homolog isoform X6"
                     /calculated_mol_wt=42660
     Region          155..368
                     /region_name="DUF747"
                     /note="Eukaryotic membrane protein family; pfam05346"
                     /db_xref="CDD:398815"
     CDS             1..374
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /coded_by="XM_047449759.1:15..1139"
                     /db_xref="GeneID:202018"
                     /db_xref="HGNC:HGNC:26887"
                     /db_xref="MIM:612758"
ORIGIN      
        1 magvgdaaap gegggggvdg pqrdgrgeae qpggsggqgp ppapqltetl gfyesdrrre
       61 rrrgrtelsl lrflsaeltr gyflehneak yterrervyt clriprelek lmvfgiflcl
      121 daflyvftll plrvflalfr lltlpcyglr drrllqpaqv cdilkgvilv icyfmmhyvd
      181 ysmmyhlirg qsviklyiiy nmlevadrlf ssfgqdilda lywtatepke rkrahigfve
      241 ikgsvfkkfe knnlfqmsns dikerftnyv lllivclrnm eqfswnpdhl wvlfpdvcmv
      301 iaseiavdiv khafitkfnd itadvyseyr aslafdlvss rqknaytdys dsvarrmgfi
      361 plplavlvdi pest
//
LOCUS       XP_047305816            3544 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat and FYVE domain-containing protein 3 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047305816
VERSION     XP_047305816.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449860.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3544
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..3544
                     /product="WD repeat and FYVE domain-containing protein 3
                     isoform X1"
                     /calculated_mol_wt=397076
     Region          2552..2675
                     /region_name="PH_BEACH"
                     /note="Pleckstrin homology domain in BEACH domain
                     containing proteins; cd01201"
                     /db_xref="CDD:275391"
     Region          2713..2994
                     /region_name="Beach"
                     /note="Beige/BEACH domain; smart01026"
                     /db_xref="CDD:214982"
     Region          3102..>3264
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          3102..3143
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3149..3185
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3190..3227
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3234..3273
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3467..3531
                     /region_name="FYVE_WDFY3"
                     /note="FYVE domain found in WD40 repeat and FYVE
                     domain-containing protein 3 (WDFY3) and similar proteins;
                     cd15719"
                     /db_xref="CDD:277259"
     Site            order(3469,3472,3490..3495,3497..3498,3522..3524)
                     /site_type="other"
                     /note="putative phosphatidylinositol 3-phosphate binding
                     site [chemical binding]"
                     /db_xref="CDD:277259"
     CDS             1..3544
                     /gene="WDFY3"
                     /gene_synonym="ALFY; BCHS; MCPH18; ZFYVE25"
                     /coded_by="XM_047449860.1:143..10777"
                     /db_xref="GeneID:23001"
                     /db_xref="HGNC:HGNC:20751"
                     /db_xref="MIM:617485"
ORIGIN      
        1 mnmvkrimgr prqeecspqd nalglmhlrr lftelchppr hmtqkeqeek lymmlpvfnr
       61 vfgnappntm tekfsdllqf ttqvsrlmvt eirrrasnks tekqcallsp kdfkattpse
      121 aasraivqfl einqseeasr gwmllttinl lassgqktvd cmttmsvpst lvkclylffd
      181 lphvpeavgg aqnelplaer rgllqkvfvq ilvklcsfvs paeelaqkdd lqllfsaits
      241 wcppynlpwr ksagevlmti srhglsvnvv kyihekecls tcvqnmqqsd dlspleivem
      301 faglscflkd ssdvsqtlld dfriwqgynf lcdlllrleq akeaeskdal kdlvnlitsl
      361 ttygvselkp agittgapfl lpgfavpqpa gkghsvrnvq afavlqnafl kaktsflaqi
      421 ildaitniym adnanyfile sqhtlsqfae kisklpevqn kyfemlefvv fslnyipcke
      481 lisvsillks sssyhcsiia mktllkftrh dyifkdvfre vgllevmvnl lhkyaallkd
      541 ptqalneqgd srnnssvedq khlallvmet ltvllqgsnt nagifrefgg arcahnivky
      601 pqcrqhalmt iqqlvlspng dddmgtllgl mhsapptelq lktdilrall svlreshrsr
      661 tvfrkvggfv yitsllvame rslscppkng wekvnqnqvf ellhtvfctl taamryepan
      721 shffkteiqy ekladavrfl gcfsdlrkis amnvfpsntq pfqrlleedv isiesvsptl
      781 rhcsklfiyl ykvatdsfds raeqippclt sesslpspwg tpalsrkrha yhsvstppvy
      841 ppknvadlkl hvttsslqss daviihpgam lamldllasv gsvtqpehal dlqlavanil
      901 qslvhternq qvmceaglha rllqrcsaal adedhslhpp lqrmferlas qalepmvlre
      961 flrlasplnc gawdkkllkq yrvhkpssls yepemrssmi tsleglgtdn vfslhednhy
     1021 riskslvksa egstvpltrv kclvsmttph dirlhgssvt pafvefdtsl egfgclflps
     1081 laphnaptnn tvttglidga vvsgigsger ffpppsglsy sswfciehfs sppnnhpvrl
     1141 ltvvrranss eqhyvclaiv lsakdrsliv stkeellqny vddfseessf yeilpccarf
     1201 rcgeliiegq whhlvlvmsk gmlknstaal yidgqlvntv klhyvhstpg gsgsanppvv
     1261 stvyayigtp paqrqiaslv wrlgpthfle evlpssnvtt iyelgpnyvg sfqavcmpck
     1321 daksegvvps pvslvpeekv sfglyalsvs sltvarirkv ynkldskaia kqlgisshen
     1381 atpvklihns aghlngsart igaaligylg vrtfvpkpva ttlqyvggaa ailglvamas
     1441 dveglyaavk alvcvvksnp laskemerik gyqllamllk kkrsllnshi lhltfslvgt
     1501 vdsghetsii pnstafqdll cdfevwlhap yelhlslfeh fielltesse asknaklmre
     1561 fqlipklllt lrdmslsqpt iaaisnvlsf llqgfpssnd llrfgqfiss tlptfavcek
     1621 fvvmeinnee kldtgteeef gglvsanlil lrnrlldill kliytskekt sinlqaceel
     1681 vktlgfdwim mfmeehlhst tvtaamrilv vllsnqsili kfkeglsggg wleqtdsvlt
     1741 nkigtvlgfn vgrsaggrst vreinrdach fpgfpvlqsf lpkhtnvpal yfllmalflq
     1801 qpvselpenl qvsvpviscr skqgcqfdld siwtfifgvp assgtvvssi hnvcteavfl
     1861 llgmlrsmlt spwqseeegs wlreypvtlm qffrylyhnv pdlasmwmsp dflcalaatv
     1921 fpfnirpyse mvtdlddevg spaeefkafa adtgmnrsqs eycnvgtkty ltnhpakkfv
     1981 fdfmrvliid nlcltpaskq tplidlllea sperstrtqq kefqtyilds vmdhllaadv
     2041 llgedaslpi tsggsyqvlv nnvfyftqrv vdklwqgmfn keskllidfi iqliaqskrr
     2101 sqglsldavy hclnrtilyq fsrahktvpq qvalldslrv ltvnrnlilg pgnhdqefis
     2161 clahclinlh vgsnvdgfgl eaearmttwh imipsdiepd gsysqdiseg rqllikavnr
     2221 vwtelihskk qvleelfkvt lpvnerghvd iatarpliee aalkcwqnhl ahekkcisrg
     2281 ealapttqsk lsrvssgfgl skltgsrrnr kesglnkhsl stqeisqwmf thiavvrdlv
     2341 dtqykeyqer qqnalkyvte ewcqiecell rerglwgppi gshldkwmle mtegpcrmrk
     2401 kmvrndmfyn hypyvpeteq etnvaseips kqpetpddip qkkparyrra vsydskeyym
     2461 rlasgnpaiv qdaivesseg eaaqqepehg edtiakvkgl vkpplkrsrs apdggdeenq
     2521 eqlqdqiaeg ssieeeektd natllrllee gekiqhmyrc arvqgldtse glllfgkehf
     2581 yvidgftmta treirdietl ppnmhepiip rgarqgpsql krtcsifaye dikevhkrry
     2641 llqpiavevf sgdgrnylla fqkgirnkvy qrflavvpsl tdssesvsgq rpntsveqgs
     2701 gllstlvgek svtqrwerge isnfqylmhl ntlagrsynd lmqypvfpwi ladydseevd
     2761 ltnpktfrnl akpmgaqtde rlaqykkryk dwedpngetp ayhygthyss amivasylvr
     2821 mepftqiflr lqgghfdlad rmfhsvreaw ysaskhnmad vkelipeffy lpeflfnsnn
     2881 fdlgckqngt klgdvilppw akgdprefir vhrealecdy vsahlhewid lifgykqqgp
     2941 aaveavnvfh hlfyegqvdi ynindplket atigfinnfg qipkqlfkkp hppkrvrsrl
     3001 ngdnagisvl pgstsdkiff hhldnlrpsl tpvkelkepv gqivctdkgi laveqnkvli
     3061 pptwnktfaw gyadlscrlg tyesdkamtv yeclsewgqi lcaicpnpkl vitggtstvv
     3121 cvwemgtske kaktvtlkqa llghtdtvtc ataslayhii vsgsrdrtci iwdlnklsfl
     3181 tqlrghrapv salcineltg divscagtyi hvwsingnpi vsvntftgrs qqiicccmse
     3241 mnewdtqnvi vtghsdgvvr fwrmeflqvp etpapepaev lemqedcpea qigqeaqded
     3301 ssdseadeqs isqdpkdtps qpsstshrpr aascrataaw ctdsgsddsr rwsdqlslde
     3361 kdgfifvnys egqtrahlqg plshphpnpi evrnysrlkp gyrwerqlvf rskltmhtaf
     3421 drkdnahpae vtalgiskdh srilvgdsrg rvfswsvsdq pgrsaadhwv kdeggdscsg
     3481 csvrfslter rhhcrncgql fcqkcsrfqs eikrlkissp vrvcqncyyn lqhergsedg
     3541 prnc
//
LOCUS       XP_006714602             561 aa            linear   PRI 20-MAR-2023
DEFINITION  neutral amino acid transporter 9 isoform X1 [Homo sapiens].
ACCESSION   XP_006714602
VERSION     XP_006714602.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006714539.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..561
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..561
                     /product="neutral amino acid transporter 9 isoform X1"
                     /calculated_mol_wt=63645
     Region          115..556
                     /region_name="SLC5-6-like_sbd"
                     /note="Solute carrier families 5 and 6-like; solute
                     binding domain; cl00456"
                     /db_xref="CDD:444915"
     CDS             1..561
                     /gene="SLC38A9"
                     /gene_synonym="SNAT9; URLC11"
                     /coded_by="XM_006714539.4:358..2043"
                     /db_xref="GeneID:153129"
                     /db_xref="HGNC:HGNC:26907"
                     /db_xref="MIM:616203"
ORIGIN      
        1 manmnsdsrh lgtsevdher dpgpmniqfe psdlrskrpf cieptnivnv nhviqrvsdh
       61 asamnkrihy ysrlttpadk aliapdhvvp apeecyvysp lgsayklqsy tegygkntsl
      121 vtifmiwntm mgtsilsipw gikqagfttg mcviilmgll tlyccyrvvk srtmmfsldt
      181 tsweypdvcr hyfgsfgqws sllfslvsli gamivywvlm snflfntgkf ifnfihhind
      241 tdtilstnns npvicpsags gghpdnssmi fyandtgaqq fekwwdksrt vpfylvglll
      301 pllnfkspsf fskfnilgtv svlyliflvt fkavrlgfhl efhwfiptef fvpeirfqfp
      361 qltgvltlaf fihnciitll knnkkqennv rdlciaymlv tltylyigvl vfasfpsppl
      421 skdcieqnfl dnfpssdtls fiarifllfq mmtvypllgy larvqllghi fgdiypsifh
      481 vlilnliivg agvimacfyp niggiirysg aacglafvfi ypsliyiisl hqeerltwpk
      541 lifhvfiiil gvanlivqff m
//
LOCUS       XP_047272847             385 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor COE1 isoform X8 [Homo sapiens].
ACCESSION   XP_047272847
VERSION     XP_047272847.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416891.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..385
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..385
                     /product="transcription factor COE1 isoform X8"
                     /calculated_mol_wt=40939
     Region          <1..40
                     /region_name="COE_DBD"
                     /note="Colier/Olf/Early B-cell factor (EBF) DNA Binding
                     Domain; cl17007"
                     /db_xref="CDD:450133"
     Region          56..140
                     /region_name="IPT_COE"
                     /note="IPT domain of the COE family (Col/Olf-1/EBF) of
                     non-basic, helix-loop-helix (HLH)-containing transcription
                     factors. COE family proteins are all transcription factors
                     and play an important role in variety of developmental
                     processes. Mouse EBF is involved...; cd01175"
                     /db_xref="CDD:238580"
     Region          141..184
                     /region_name="COE1_HLH"
                     /note="Transcription factor COE1 helix-loop-helix domain;
                     pfam16423"
                     /db_xref="CDD:406751"
     CDS             1..385
                     /gene="EBF1"
                     /gene_synonym="COE1; EBF; O/E-1; OLF1"
                     /coded_by="XM_047416891.1:14445..15602"
                     /db_xref="GeneID:1879"
                     /db_xref="HGNC:HGNC:3126"
                     /db_xref="MIM:164343"
ORIGIN      
        1 mrrfqvvvst tvnvdghvla vsdnmfvhnn skhgrrarrl dpsegtpsyl ehaatpcika
       61 ispsegwttg gatviiigdn ffdglqvifg tmlvwselit phairvqtpp rhipgvvevt
      121 lsykskqfck gtpgrfiyta lneptidygf qrlqkviprh pgdperlpke vilkraadlv
      181 ealygmphnn qeiilkraad iaealysvpr nhnqlpalan tsvhagmmgv nsfsgqlavn
      241 vseasqatnq gftrnsssvs phgyvpsttp qqtnynsvtt smngygsaam snlggsptfl
      301 ngsaanspya ivpssptmas stslpsncss ssgifsfspa nmvsavkqks afapvvrpqt
      361 sppptctstn gnslqaisgm ivppm
//
LOCUS       XP_047273543             474 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-dependent proline transporter isoform X4 [Homo sapiens].
ACCESSION   XP_047273543
VERSION     XP_047273543.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417587.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..474
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..474
                     /product="sodium-dependent proline transporter isoform X4"
                     /calculated_mol_wt=52209
     Region          118..>439
                     /region_name="SLC5-6-like_sbd"
                     /note="Solute carrier families 5 and 6-like; solute
                     binding domain; cl00456"
                     /db_xref="CDD:444915"
     CDS             1..474
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /coded_by="XM_047417587.1:24..1448"
                     /db_xref="GeneID:6534"
                     /db_xref="HGNC:HGNC:11054"
                     /db_xref="MIM:606205"
ORIGIN      
        1 mraqqctlpq pralrrdrqg irsalpalha rsrqtaapas vpapagarep rgqrrsgqrt
       61 isralalcap gqlspghpls kmkklqgahl rkpvtpdllm tpsdqgdvdl dvdfaahrgn
      121 wtgkldflls cigycvglgn vwrfpyrayt ngggaflvpy flmlaicgip lfflelslgq
      181 fsslgplavw kisplfkgag aamllivglv aiyynmiiay vlfylfaslt sdlpwehcgn
      241 wwntelcleh rvskdgngal plnltctvsp seeywsqtht eaeeegrrgr vvsnsypqvi
      301 flpqppkaee gvsryvlhiq gsqgigspge irwnlclcll lawvivflci lkgvkssgkv
      361 vyftatfpyl illmllvrgv tlpgawkgiq fyltpqfhhl lsskvwieaa lqifyslgvg
      421 fgglltfasy ntfhqniyrp wpglcrlptg hdhaasvtll vlslllhasd srpr
//
LOCUS       XP_016865807             181 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium/potassium-transporting ATPase subunit beta-1-interacting
            protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_016865807
VERSION     XP_016865807.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017010318.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..181
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..181
                     /product="sodium/potassium-transporting ATPase subunit
                     beta-1-interacting protein 2 isoform X1"
                     /calculated_mol_wt=20482
     Region          1..180
                     /region_name="NKAIN"
                     /note="Na,K-Atpase Interacting protein; pfam05640"
                     /db_xref="CDD:428559"
     CDS             1..181
                     /gene="NKAIN2"
                     /gene_synonym="FAM77B; NKAIP2; TCBA; TCBA1"
                     /coded_by="XM_017010318.3:337..882"
                     /db_xref="GeneID:154215"
                     /db_xref="HGNC:HGNC:16443"
                     /db_xref="MIM:609758"
ORIGIN      
        1 mgycsgrctl ificgmqlvc vlerqifdfl gyqwapilan fvhiiivilg lfgtiqyrpr
       61 yitgetdlil tfnismhrsw wmengpgctv tsvtpapdwa pedhryitvs gclleyqyie
      121 vahsslqivl alagfiyacy vvkciteeed sfdfiggfds ygyqgpqkts hlqlqpmyms
      181 k
//
LOCUS       XP_047274327             247 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF182 isoform X1 [Homo sapiens].
ACCESSION   XP_047274327
VERSION     XP_047274327.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418371.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..247
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..247
                     /product="E3 ubiquitin-protein ligase RNF182 isoform X1"
                     /calculated_mol_wt=27271
     Region          17..71
                     /region_name="RING-HC_RNF182"
                     /note="RING finger, HC subclass, found in RING finger
                     protein 182 (RNF182) and similar proteins; cd16555"
                     /db_xref="CDD:438217"
     CDS             1..247
                     /gene="RNF182"
                     /coded_by="XM_047418371.1:629..1372"
                     /db_xref="GeneID:221687"
                     /db_xref="HGNC:HGNC:28522"
ORIGIN      
        1 masqppedta esqasdelec kicynrynlk qrkpkvlecc hrvcakclyk iidfgdspqg
       61 vivcpfcrfe tclpddevss lpddnnilvn ltcggkgkkc lpenptelll tpkrlaslvs
      121 pshtssnclv itimevqres spslsstpvv efyrpasfds vttvshnwtv wnctsllfqt
      181 sirvlvwllg llyfsslplg iyllvskkvt lgvvfvslvp sslvilmvyg fcqcvchefl
      241 dcmapps
//
LOCUS       XP_047274401            2422 aa            linear   PRI 20-MAR-2023
DEFINITION  protein dopey-1 isoform X13 [Homo sapiens].
ACCESSION   XP_047274401
VERSION     XP_047274401.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418445.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2422
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..2422
                     /product="protein dopey-1 isoform X13"
                     /calculated_mol_wt=272385
     Region          11..261
                     /region_name="Dopey_N"
                     /note="Dopey, N-terminal; pfam04118"
                     /db_xref="CDD:427723"
     Region          <2048..2284
                     /region_name="Dopey_N"
                     /note="Dopey, N-terminal; cl04407"
                     /db_xref="CDD:446380"
     CDS             1..2422
                     /gene="DOP1A"
                     /gene_synonym="dJ202D23.2; DOP1; DOPEY1; KIAA1117"
                     /coded_by="XM_047418445.1:256..7524"
                     /db_xref="GeneID:23033"
                     /db_xref="HGNC:HGNC:21194"
                     /db_xref="MIM:616823"
ORIGIN      
        1 mnteelells dskyrnyvaa idkalknfey ssewadlisa lgklnkvlqn nakyqvvpkk
       61 ltigkrlaqc lhpalpggvh rkaletyeii fkiigpkrla kdlflyssgl fpllanaams
      121 vkptllslye iyylplgktl kpglqglltg ilpgleegse yyertnmlle kvaaavdqsa
      181 fysalwgsll tspavrlpgi tyvlahlnrk lsmedqlyii gsdielmatr pdmirilsaa
      241 lhvvlrrdms lnrrlyawll gfdnngaiig prstrhsnpe ehatyyfttf skellvqamv
      301 gilqvngfge entlmqdlkp frilislldk pelgpviled vlievfrtly sqckaeldlq
      361 teppfskdha qlssklrenk ktaeliktan llfnsfepyy mwdyvarwfe eccrrtlhvr
      421 lqigpgdsnd sselqltnfc llvdflldiv sletyieiqt ehlpqlllrm isaltshlqt
      481 lhlseltdsl rlcskilskv qppllsastg gvlqfpsgqn nsvkewedkk vssvshenpt
      541 evfedgenpp ssrssesgft efiqyqadrt ddidrelseg qgaaaipigs tssetetast
      601 vgseetiiqt psvvtqgtat rsrktaqkta mqccleyvqq fltrlinlyi iqnnsfsqsl
      661 atehqgdlgr eqgetskwdr nsqgdvkekn iskqktskey lsaflaacql flecssfpvy
      721 iaegnhtsel rsekletdce hvqppqwlqt lmnacsqasd fsvqsvaisl vmdlvgltqs
      781 vamvtgenin svepaqplsp nqgrvavvir ppltqgnlry iaekteffkh valtlwdqlg
      841 dgtpqhhqks velfyqlhnl vpsssicedv isqqlthkdk kirmeahakf avlwhltrdl
      901 hinksssfvr sfdrslfiml dslnsldgst ssvgqawlnq vlqrhdiarv lepllllllh
      961 pktqrvsvqr vqaerywnks pcypgeesdk hfmqnfacsn vsqvqlitsk gngekpltmd
     1021 eienfsltvn plsdrlslls tssetipmvv sdfdlpdqqi eilqssdsgc sqssagdnls
     1081 yevdpetvna qedsqmpkes spdddvqqvv fdlickvvsg levesasvts qleieamppk
     1141 csdidpdeet ikieddsiqq sqnallsnes sqflsvsaeg ghecvangis rnssspcisg
     1201 tthtlhdssv asietksrqr shssiqfsfk eklsekvsek etivkesgkq pgakpkvkla
     1261 rkkdddkkks sneklkqtsv ffsdgldlen wyscgegdis eiesdmgspg srkspnfnih
     1321 plyqhvllyl qlydssrtly afsaikailk tnpiafvnai sttsvnnayt pqlsllqnll
     1381 arhrisvmgk dfyshipvds nhnfrssmyi eilislclyy mrshypthvk vtaqdlignr
     1441 nmqmmsieil tllftelakv iessakgfps fisdmlskck vqkvilhcll ssifsaqkwh
     1501 sekmagknlv aveegfseds linfsedefd ngstlqsqll kvlqrlivle hrvmtipeen
     1561 etgfdfvvsd lehisphqpm tslqylhaqp itcqgmflca viralhqhca ckmhpqwigl
     1621 itstlpymgk vlqrvvvsvt lqlcrnldnl iqqykyetgl sdsrplwmas iippdmiltl
     1681 legitaiihy clldpttqyh qllvsvdqkh lfearsgils ilhmimssvt llwsilhqad
     1741 ssekmtiaas aslttinlga tknlrqqile llgpismnhg vhfmaaiafv wnerrqnktt
     1801 trtkvipaas eeqlllvelv rsisvmraet viqtvkevlk qppaiakdkk hlslevcmlq
     1861 ffyayiqrip vpnlvdswas llillkdsiq lslpapgqfl ilgvlnefim knpslenkkd
     1921 qrdlqdvthk ivdaigaiag ssleqttwlr rnlevkpspk imvdgtnles dvedmlspam
     1981 etanitpsvy svhaltllse vlahlldmvf ysdekervip llvnimhyvv pylrnhsahn
     2041 apsyracvql lsslsgyqyt rrawkkeafd lfmdpsffqm dascvnhwra imdnlmthdk
     2101 ttfrdlmtrv avaqssslnl fanrdveleq ramllkrlaf aifsseidqy qkylpdiqer
     2161 lveslrlpqv ptlhsqvflf frvlllrmsp qhltslwptm itelvqvfll meqeltaded
     2221 isrtsgpsva glettytggn gfstsynsqr wlnlylsack fldlalalps enlpqfqmyr
     2281 wafipeasdd sglevrrqgi hqrefkpyvv rlakllrkra kknpeednsg rtlgwepghl
     2341 lltictvrsm eqllpffnvl sqvfnskvts rcgghsgspi lysnafpnkd mklenhkpcs
     2401 skarqkieem vekdflegmi kt
//
LOCUS       XP_016866468            1186 aa            linear   PRI 20-MAR-2023
DEFINITION  jouberin isoform X2 [Homo sapiens].
ACCESSION   XP_016866468
VERSION     XP_016866468.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017010979.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1186
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1186
                     /product="jouberin isoform X2"
                     /calculated_mol_wt=135481
     Region          611..907
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          612..652
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Site            order(626,630,639..640,652..653,671,675,681..682,695..696,
                     714,719,725..726,743,760,772,787..788,800,817,821,
                     827..828,843..844,859,864,870..871,883,886,904)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          658..695
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          700..737
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          748..783
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          803..840
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1055..1106
                     /region_name="SH3_AHI-1"
                     /note="Src Homology 3 domain of Abelson helper integration
                     site-1 (AHI-1); cd11812"
                     /db_xref="CDD:212746"
     Site            order(1060,1062,1065,1069,1087..1088,1102,1104..1105)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212746"
     CDS             1..1186
                     /gene="AHI1"
                     /gene_synonym="AHI-1; dJ71N10.1; JBTS3; ORF1"
                     /coded_by="XM_017010979.3:360..3920"
                     /db_xref="GeneID:54806"
                     /db_xref="HGNC:HGNC:21575"
                     /db_xref="MIM:608894"
ORIGIN      
        1 mptaeseakv ktkvrfeell kthsdlmrek kklkkklvrs eenispdtir snlhymkett
       61 sddpdtirsn lphikettsd dvsaantnnl kkstrvtknk lrntqlaten pngdasveed
      121 kqgkpnkkvi ktvpqlttqd lkpetpenkv dsthqkthtk pqpgvdhqks ekanegreet
      181 dleedeelmq ayqchvteem akeikrkirk klkeqltyfp sdtlfhddkl ssekrkkkke
      241 vpvfskaets tltisgdtve geqkkessvr svssdshqdd eissmeqste dsmqddtkpk
      301 pkktkkktka vadnnedvdg dgvheitsrd spvypkclld ddlvlgvyih rtdrlksdfm
      361 ishpmvkihv vdehtgqyvk kddsgrpvss yyekenvdyi lpimtqpydf kqlksrlpew
      421 eeqivfnenf pyllrgsdes pkvilffeil dflsvdeikn nsevqnqecg frkiawaflk
      481 llgangnani nsklrlqlyy pptkprspls vveafewwsk cprnhypstl yvtvrglkvp
      541 dcikpsyrsm malqeekgkp vhcerhhess svdtepglee skevikwkrl pgqacripnk
      601 hlfslnager gcfcldfshn grilaaacas rdgypiilye ipsgrfmrel cghlniiydl
      661 swskddhyil tsssdgtari wkneinntnt frvlphpsfv ytakfhpavr elvvtgcyds
      721 miriwkvemr edsailvrqf dvhksfinsl cfdteghhmy sgdctgvivv wntyvkindl
      781 ehsvhhwtin keiketefkg ipisyleihp ngkrllihtk dstlrimdlr ilvarkfvga
      841 anyrekihst ltpcgtflfa gsedgivyvw npetgeqvam ysdlpfkspi rdisyhpfen
      901 mvafcafgqn epillyiydf hvaqqeaemf kryngtfplp gihqsqdalc tcpklphqgs
      961 fqidefvhte ssstkmqlvk qrletvtevi rscaakvnkn lsftsppavs sqqsklkqsn
     1021 mltaqeilhq fgftqtgiis ierkpcnhqv dtaptvvaly dytanrsdel tihrgdiirv
     1081 ffkdnedwwy gsigkgqegy fpanhvaset lyqelppeik erspplspee ktkiekspap
     1141 qkvgdntggq rswmllsile crgqlpstkn slaknvnrme lravpl
//
LOCUS       XP_047276484             722 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF216 isoform X4 [Homo sapiens].
ACCESSION   XP_047276484
VERSION     XP_047276484.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420528.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..722
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..722
                     /product="E3 ubiquitin-protein ligase RNF216 isoform X4"
                     /calculated_mol_wt=82745
     Region          570..626
                     /region_name="RING-HC_RBR_RNF216"
                     /note="RING finger, HC subclass, found in RING finger
                     protein 216 (RNF216) and similar proteins; cd16630"
                     /db_xref="CDD:438292"
     Region          659..>688
                     /region_name="BRcat_Rcat_RBR"
                     /note="BRcat (benign-catalytic) and Rcat
                     (required-for-catalysis) domains, part of the RBR
                     (RING1-BRcat-Rcat) domain; cl45895"
                     /db_xref="CDD:459240"
     CDS             1..722
                     /gene="RNF216"
                     /gene_synonym="CAHH; TRIAD3; U7I1; UBCE7IP1; ZIN"
                     /coded_by="XM_047420528.1:193..2361"
                     /db_xref="GeneID:54476"
                     /db_xref="HGNC:HGNC:21698"
                     /db_xref="MIM:609948"
ORIGIN      
        1 meegnnneev ihlnnfhchr gqewinlrdg pitisdssde eripmlvtpa pqqheeedld
       61 ddviltetnk pqrsrpnlik paaqwqdlkr lgeerpkksr aafesdkssy fsvcnnplfd
      121 sgaqddsedd ygefldlgpp giseftkpsg qterepkpgp shnqaandiv nprseqkvii
      181 leegsllyte sdpletqnqs sedsetells nlgesaalad dqaieedcwl dhpyfqslnq
      241 qpreitnqvv pqerqpeael grllfqhefp gpafprpepq qggisgpssp qpahplgefe
      301 dqqlasddee pgpafpmqes qepnleniwg qeaaevdqel vellvketea rfpdvangfi
      361 eeiihfknyy dlnvlcnfll enpdypkred riiinpsssl lasqdetklp kidffdyskl
      421 tpldqrcfiq aadllmadfk vlssqdikwa lhelkghyai trkalsdaik kwqelspets
      481 gkrkkrkqmn qysyidfkfe qgdikiekrm fflenkrrhc rsydrrallp avqqeqefye
      541 qkikemaehe dfllalqmne eqyqkdgqli ecrccygefp feeltqcada hlfckeclir
      601 yaqeavfgsg klelscmegs ctcsfptsel ekvlpqtily kyyerkaeee vaaayadelv
      661 rcpscsfpal ldsdvkrfsc pnphcrkryq risktktwik rgqsfstllc vgirdlvrcn
      721 sa
//
LOCUS       XP_047277680             832 aa            linear   PRI 20-MAR-2023
DEFINITION  ATPase family AAA domain-containing protein 2 isoform X5 [Homo
            sapiens].
ACCESSION   XP_047277680
VERSION     XP_047277680.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421724.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..832
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..832
                     /product="ATPase family AAA domain-containing protein 2
                     isoform X5"
                     /calculated_mol_wt=94477
     Region          <1..376
                     /region_name="SpoVK"
                     /note="AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell
                     wall/membrane/envelope biogenesis, Cell cycle control,
                     cell division, chromosome partitioning, Signal
                     transduction mechanisms]; COG0464"
                     /db_xref="CDD:223540"
     Region          <1..140
                     /region_name="RPT1"
                     /note="ATP-dependent 26S proteasome regulatory subunit
                     [Posttranslational modification, protein turnover,
                     chaperones]; COG1222"
                     /db_xref="CDD:224143"
     Region          429..539
                     /region_name="Bromo_AAA"
                     /note="Bromodomain; sub-family co-occurring with AAA
                     domains. Bromodomains are 110 amino acid long domains,
                     that are found in many chromatin associated proteins.
                     Bromodomains can interact specifically with acetylated
                     lysine. The structure(2DKW) in this...; cd05528"
                     /db_xref="CDD:99957"
     Site            order(455,460,463,502,506,516)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99957"
     CDS             1..832
                     /gene="ATAD2"
                     /gene_synonym="ANCCA; CT137; PRO2000"
                     /coded_by="XM_047421724.1:21..2519"
                     /db_xref="GeneID:29028"
                     /db_xref="HGNC:HGNC:30123"
                     /db_xref="MIM:611941"
ORIGIN      
        1 mdgldsrgei vvigatnrld sidpalrrpg rfdreflfsl pdkearkeil kihtrdwnpk
       61 pldtfleela encvgycgad iksicaeaal calrrrypqi yttseklqld lssinisakd
      121 fevamqkmip asqravtspg qalstvvkpl lqntvdkile alqrvfphae frtnktldsd
      181 iscpllesdl aysdddvpsv yenglsqkss hkakdnfnfl hlnrnacyqp msfrpriliv
      241 gepgfgqgsh lapavihale kftvytldip vlfgvsttsp eetcaqvire akrtapsivy
      301 vphihvwwei vgptlkatft tllqnipsfa pvlllatsdk phsalpeevq elfirdygei
      361 fnvqlpdkee rtkffedlil kqaakppisk kkavlqalev lpvapppepr sltaeevkrl
      421 eeqeedtfre lriflrnvth rlaidkrfrv ftkpvdpdev pdyvtvikqp mdlssviski
      481 dlhkyltvkd ylrdidlics naleynpdrd pgdrlirhra calrdtayai ikeeldedfe
      541 qlceeiqesr kkrgcsssky apsyyhvmpk qnstlvgdkr sdpeqneklk tpstpvacst
      601 paqlkrkirk ksnwylgtik krrkisqakd dsqnaidhki esdteetqdt svdhnetgnt
      661 gessveenek qqnaseskle lrnnsntcni eneledsrkt tactelrdki acngdasssq
      721 iihisdeneg kemcvlrmtr arrsqveqqq litvekalai lsqptpslvv dherlknllk
      781 tvvkksqnyn ifqlenlyav isqciyrhrk dhdktsliqk meqevenfsc sr
//
LOCUS       XP_047277697             464 aa            linear   PRI 20-MAR-2023
DEFINITION  heat shock factor protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_047277697
VERSION     XP_047277697.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421741.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..464
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..464
                     /product="heat shock factor protein 1 isoform X4"
                     /calculated_mol_wt=50073
     Region          <1..53
                     /region_name="HSF"
                     /note="heat shock factor; smart00415"
                     /db_xref="CDD:214654"
     Region          187..464
                     /region_name="Vert_HS_TF"
                     /note="Vertebrate heat shock transcription factor;
                     pfam06546"
                     /db_xref="CDD:429000"
     CDS             1..464
                     /gene="HSF1"
                     /gene_synonym="HSTF1"
                     /coded_by="XM_047421741.1:293..1687"
                     /db_xref="GeneID:3297"
                     /db_xref="HGNC:HGNC:5224"
                     /db_xref="MIM:140580"
ORIGIN      
        1 masfvrqlnm ygfrkvvhie qgglvkperd dtefqhpcfl rgqeqlleni krkvtsvstl
       61 ksedikirqd svtklltdvq lmkgkqecmd skllamkhen ealwrevasl rqkhaqqqkv
      121 vnkliqflis lvqsnrilgv krkiplmlnd sgsahsmpky srqfslehvh gsgpysapsp
      181 aysssslyap davassgpii sditelapas pmaspggsid erplsssplv rvkeeppspp
      241 qsprveeasp grpssvdtll sptalidsil resepapasv taltdarght dtegrppspp
      301 ptstpekcls vacldknels dhldamdsnl dnlqtmlssh gfsvdtsall dlfspsvtvp
      361 dmslpdldss lasiqellsp qepprppeae nsspdsgkql vhytaqplfl ldpgsvdtgs
      421 ndlpvlfelg egsyfsegdg faedptisll tgseppkakd ptvs
//
LOCUS       XP_016869381            4021 aa            linear   PRI 20-MAR-2023
DEFINITION  epiplakin isoform X4 [Homo sapiens].
ACCESSION   XP_016869381
VERSION     XP_016869381.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017013892.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_016869381.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4021
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..4021
                     /product="epiplakin isoform X4"
                     /calculated_mol_wt=439059
     Region          74..112
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          151..188
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          318..356
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          394..432
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          605..643
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          643..681
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          679..716
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          719..757
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          969..1001
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          1000..1036
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          1039..1077
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          1279..1317
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          1355..1393
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          1567..1604
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          1604..1642
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          1641..1677
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          1680..1718
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          1892..1930
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          1930..1968
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          1967..2003
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          2006..2041
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          2219..2262
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          2262..2300
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          2299..2335
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          2338..2376
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          2755..2798
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          2798..2836
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          2835..2871
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          2874..2912
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3286..3329
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3329..3367
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3366..3402
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          3405..3443
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3820..3863
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3863..3901
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     Region          3900..3936
                     /region_name="PLEC"
                     /note="Plectin repeat; smart00250"
                     /db_xref="CDD:197605"
     Region          3939..3977
                     /region_name="Plectin"
                     /note="Plectin repeat; pfam00681"
                     /db_xref="CDD:425816"
     CDS             1..4021
                     /gene="EPPK1"
                     /gene_synonym="EPIPL; EPIPL1"
                     /coded_by="XM_017013892.2:76..12141"
                     /db_xref="GeneID:83481"
                     /db_xref="HGNC:HGNC:15577"
                     /db_xref="MIM:607553"
ORIGIN      
        1 msghtlpplp vpgtnsteqa svpramaatl gagtpprpqa rsiagvyvea sgqaqsvyaa
       61 meqgllpagl gqalleaqaa tgglvdlarg qllpvskalq qglvglelke kllaaeratt
      121 gypdpyggek lalfqaigke vvdralgqsw levqlatggl vdpaqgvlva pepachqgll
      181 dretwhklse lepgtgdlrf ldpntlerlt yhqllercvr apgsglallp lkitfrsmgg
      241 avsaaellev gildeqavqg lregrlaavd vsaraevrry legtgsvagv vllpeghkks
      301 ffqaatehll pmgtalplle aqaathtlvd pitgqrlwvd eavraglvsp elheqllvae
      361 qavtghhdpf sgsqiplfqa mkkglvdrpl alrlldaqla tgglvcparr lrlpleaalr
      421 cgcldedtqr qlsqagsfsd gthgglryeq llalcvtdpe tglaflplsg gprggepqgp
      481 pfikystrqa lstatatvsv gkfrgrpvsl wellfseais seqramlaqq yqegtlsvek
      541 laaklsatle qaaatarvtf sglrdtvtpg ellkaeiidq dlyerlehgq atakdvgsla
      601 svqrylqgtg ciaglllpgs qerlsiyear ckgllrpgta lilleaqaat gfiidpkank
      661 ghsveealra avigpdvfak llsaeravtg ytdpytgqqi slfqamqkgl ivrehgirll
      721 eaqiatggvi dpvhshrvpv dvayrrgyfd qmlnlilldp sddtkgffdp nthenltylq
      781 llercvrdpe tglyllplss tqsplvdsat qqafqnllls vkygrfqgqr vsawelinse
      841 yfsegrrrql lrryrqrevt lgqvakllea etqrqadiml palrsrvtvh qlleagiidq
      901 qlldqvlagt ispealllmd gvrrylcglg avggvrllps gqrlslyqam rqkllgprva
      961 lalleaqaat gtimdphspe slsvdeavrr gvvgpelygr lkraegaiag frdpfsgkqv
     1021 svfqamkkgl ipweqaarll eaqvatggii dptshhhlpm pvaiqrgyvd qemetalsss
     1081 setfptpdgq grtsyaqlle ecprdetsgl hllplpesap alpteeqvqr slqavpgakd
     1141 gtslwdllss chfteeqrrg lledvqegrt tvpqllasvq rwvqetklla qarvmvpgpr
     1201 gevpavwlld agiitqetle alaqgtqspa qvaeqpavka clwgtgcvag vllqpsgaka
     1261 siaqavrdgl lptglgqrll eaqvasgflv dplnnqrlsv edavkvglvg relseqlgqa
     1321 eraaagypdp ysraslslwq amekglvpqn eglpllqvql atggvvdpvh gvhlpqaaac
     1381 rlglldtqts qvltavdkdn kfffdpsard qvtyqqlrer cvcdsetgll llplpsdtvl
     1441 evddhtaval ramkvpvstg rfkgcsvslw dlllseyvga dkrrelvalc rsgraaalrq
     1501 vvsavttlve aaerqplqat frglrkqvsa rdlfraqlis rktldelsqg tttvkevaem
     1561 dsvkrslegg nfiagvliqg tqermsipea lrrhilrpgt alvlleaqaa tgfiidpven
     1621 rkltveeafk agmfgketyv kllsaeravt gytdpytgqq islfqamqkd livrehgirl
     1681 leaqiatggi idpvhshrvp vdvayrcgyf deemnrilad psddtkgffd pnthenltyl
     1741 qllercvedp etglyllqii kkgenyvyin eatrhvlqsr takmrvgrfa dqvvsfwdll
     1801 sspyftedrk reliqeygaq sgglekllei itttieetet qnqgikvaai rgevtaadlf
     1861 nsrvidqktl htlrvgrtgg qalstlecvk pylegsgcia gvtvpstrev mslheasrke
     1921 lipaafatwl leaqaatgfl ldpctrqkls vdeavdvglv neelrerllk aeraatgyrd
     1981 patgdtiplf qamqkqliek aealrllevq vatggvidpq hhhrlpleta yrrgclhkdi
     2041 yalisdqkhm rkrfvdpntq ekvsyrelqe rcrpqedtgw llfpvnkaar dsehiddetr
     2101 raleaeqvei tvgrfrgqkp tlwallnsey vteekklqlv rmyrthtrra lqtvaqlile
     2161 liekqetsnk hlwfqgirrq itasellssa iiteemlqdl etgrsttqel meddrvkryl
     2221 egtsciagvl vpakdqpgrq ekmsiyqamw kgvlrpgtal vlleaqaatg fvidpvrnlr
     2281 lsveeavaag vvggeiqekl lsaeravtgy tdpytgqqis lfqamqkdli vrehgirlle
     2341 aqiatggvid pvhshrvpvd vayrrgyfde emnrvladps ddtkgffdpn thenltyvql
     2401 lrrcvpdpdt glymlqlagr gsavhqlsee lrcalrdarv tpgsgalqgq svsvwellfy
     2461 revsedrrqd llsryragtl tveelgatlt sllaqaqaqa raeaeagspr pdprealraa
     2521 tmevkvgrlr gravpvwdvl asgyvsraar eellaefgsg tldlpaltrr ltaiieeaee
     2581 apgarpqlqd awrgprepgp agrgdgdsgr sqregqgege tqeaaaaaaa aaarrqeqtl
     2641 rdatmevqrg qfqgrpvsvw dvlfssylse arrdellaqh aagalglpdl vavltrviee
     2701 teerlskvsf rglrrqvsas elhtsgilgp etlrdlaqgt ktlqevtemd svkrylegts
     2761 ciagvlvpak dqpgrqekms iyqamwkgvl rpgtalvlle aqaatgfvid pvrnlrlsve
     2821 eavaagvvgg eiqekllsae ravtgytdpy tgqqislfqa mqkdlivreh girlleaqia
     2881 tggvidpvhs hrvpvdvayq rgyfdeemnr vladpsddtk gffdpnthen ltyvqllrrc
     2941 vpdpdtglym lqlagrgsav hqlseelrca lrdarvtpgs galqgqsvsv wellfyrevs
     3001 edrrqdllsr yragtltvee lgatltslla qaqaqaraea eagsprpdpr ealraatmev
     3061 kvgrlrgrav pvwdvlasgy vsraareell aefgsgtldl paltrrltai ieeaeeapga
     3121 rpqlqdawrg prepgpagrg dgdsgrsqre gqgegetqea aaaarrqeqt lrdatmevqr
     3181 gqfqgrpvsv wdvlfssyls earrdellaq haagalglpd lvavltrvie eteerlskvs
     3241 frglrcqvsa selhtsgilg petlrdlaqg tktlqevtem dsvkrylegt sciagvlvpa
     3301 kdqpgrqekm siyqamwkgv lrpgtalvll eaqaatgfvi dpvrnlrlsv eeavaagvvg
     3361 geiqekllsa eravtgytdp ytgqqislfq amqkdlivre hgirlleaqi atggvidpvh
     3421 shrvpvdvay rrgyfdeemn rvladpsddt kgffdpnthe nltyvqllrr cvpdpdtgly
     3481 mlqlagrgsa vhqlseelrc alrdarvtpg sgalqgqsvs vwellfyrev sedrrqdlls
     3541 ryragtltve elgatltsll aqaqaqarae aeagsprpdp realraatme vkvgrlrgra
     3601 vpvwdvlasg yvsraareel laefgsgtld lpaltrrlta iieeaeeapg arpqlqdawr
     3661 gprepgpagr gdgdsgrsqr egqgegetqe aaaaaaaarr qeqtlrdatm evqrgqfqgr
     3721 pvsvwdvlfs sylseahrde llaqhaagal glpdlvavlt rvieeteerl skvsfrglrr
     3781 qvsaselhts gilgpetlrd laqgtktlqe vtemdsvkry legtsciagv lvpakdqpgr
     3841 qekmsiyqam wkgvlrpgta lvlleaqaat gfvidpvrnl rlsveeavaa gvvggeiqek
     3901 llsaeravtg ytdpytgqqi slfqamqkdl ivrehgirll eaqiatggvi dpvhshrvpv
     3961 dvayrrgyfd eemnrvladp sddtkgffdp nthenltylq llqratldpe tgllflslsl
     4021 q
//
LOCUS       XP_016869511            1477 aa            linear   PRI 20-MAR-2023
DEFINITION  regulating synaptic membrane exocytosis protein 2 isoform X28 [Homo
            sapiens].
ACCESSION   XP_016869511
VERSION     XP_016869511.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014022.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1477
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1477
                     /product="regulating synaptic membrane exocytosis protein
                     2 isoform X28"
                     /calculated_mol_wt=167688
     Region          448..529
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(455..458,460,512..513,516..517)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          582..708
                     /region_name="C2A_RIM1alpha"
                     /note="C2 domain first repeat contained in
                     Rab3-interacting molecule (RIM) proteins; cd04031"
                     /db_xref="CDD:175997"
     Site            order(613,619,674,676,684)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:175997"
     Region          1308..1453
                     /region_name="C2B_RIM1alpha"
                     /note="C2 domain second repeat contained in
                     Rab3-interacting molecule (RIM) proteins; cd04028"
                     /db_xref="CDD:175994"
     Site            order(1365,1369..1370,1372,1375,1403,1405,1407,1451..1452)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:175994"
     CDS             1..1477
                     /gene="RIMS2"
                     /gene_synonym="CRSDS; OBOE; RAB3IP3; RIM2"
                     /coded_by="XM_017014022.2:289..4722"
                     /db_xref="GeneID:9699"
                     /db_xref="HGNC:HGNC:17283"
                     /db_xref="MIM:606630"
ORIGIN      
        1 mqfetlrqvc nsvlshfhgv fssppnilqn elfgqtlnna rkrspsvsrd qnrrydqree
       61 reeysqyats dtamprspsd yadrrsqhep qfyedsdhls yrdsnrrshr hskeyivdde
      121 dvesrdeyer qrreeeyqsr yrsdpnlary pvkpqpyeeq mrihaevsra rherrhsdvs
      181 lanadledsr ismlrmdrps rqrsiserra amenqrsysm ertreaqgps syaqrttnhs
      241 pptprrsplp idrpdlrrtd slrkqhhldp ssavrktkre kmetmlrnds lssdqsesvr
      301 ppppkphksk kggkmrqisl ssseeelast peytscddve iesesvsekg dsqkgkrkts
      361 eqavlsdsnt rserqkemmy fgghsleedl ewsepqikds gvdtcssttl neehshsdkh
      421 pvtwqpskdg drligrilln krlkdgsvpr dsgamlglkv vggkmtesgr lcafitkvkk
      481 gsladtvghl rpgdevlewn grllqgatfe evyniilesk pepqvelvvs rpigdiprip
      541 dsthaqless sssfesqkmd rpsisvtspm spgmlrdvpq flsgqlsikl wfdkvghqli
      601 vtilgakdlp sredgrprnp yvkiyflpdr sdknkrrtkt vkktlepkwn qtfiyspvhr
      661 refrermlei tlwdqarvre eeseflgeil ieletalldd ephwyklqth dvsslplphp
      721 spymprrqlh gesptrrlqr skrisdsevs dydcddgigv vsdyrhdgrd lqsstlsvpe
      781 qvmssnhcsp sgsphrvdvi grtrswspsv pppqsrnveq glrgtrtmtg hyntisrmdr
      841 hrvmddhysp drdshfltlp rsrysqtidh hhrdgrdcea adrqpyhrsr steqrpller
      901 tttrsrster pdtnlmrsmp slmtgrsapp spalsrshpr tgsvqtspss tpvagrrgrq
      961 lpqlppkgtl drkeldstrr ryagtmdiee rnrqmkinky kqvagsdprl eqdyhskyrs
     1021 gwdphrgadn vstkssdsdv sdisavsrts sasrfsstsy msvqserpgg nkkirpkgie
     1081 eggkegdkhe eivhekeevk eerinenekg keiaktcnke knresgdeek tqdiheqgke
     1141 keqwnkedlq rrfsqddtsv ftskmqsrqm gisgknmtks tsisgdmcsl ekndgsqsdt
     1201 avgtlgtsgk krrsslgakm vaivglsrks rsasqlsqte aggkklrstv qrstetglav
     1261 emrnwmtrqa srestdgsmn syssegnlif pgvrlasdsq fsdfldglgp aqlvgrqtla
     1321 tpamgdiqvg mmdkkgqlev eiirarglvv kpgsktlpap yvkvylldng vciakkktkv
     1381 arktleplyq qllsfeespq gkvlqiivwg dygrmdhksf mgvaqillde lelsnmvigw
     1441 fklfppsslv dptlapltrr asqsslesst gpsysrs
//
LOCUS       XP_006717078             264 aa            linear   PRI 20-MAR-2023
DEFINITION  ficolin-2 isoform X2 [Homo sapiens].
ACCESSION   XP_006717078
VERSION     XP_006717078.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006717015.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..264
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..264
                     /product="ficolin-2 isoform X2"
                     /calculated_mol_wt=29073
     Region          53..263
                     /region_name="FReD"
                     /note="Fibrinogen-related domains (FReDs); C terminal
                     globular domain of fibrinogen. Fibrinogen is involved in
                     blood clotting, being activated by thrombin to assemble
                     into fibrin clots. The N-termini of 2 times 3 chains come
                     together to form a globular...; cd00087"
                     /db_xref="CDD:238040"
     Site            171
                     /site_type="other"
                     /note="gamma-gamma dimer interface [polypeptide binding]"
                     /db_xref="CDD:238040"
     Site            order(200,202,204)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238040"
     Site            order(208,211..212,221..222)
                     /site_type="active"
                     /note="polymerization pocket [active]"
                     /db_xref="CDD:238040"
     CDS             1..264
                     /gene="FCN2"
                     /gene_synonym="EBP-37; FCNL; ficolin-2; P35"
                     /coded_by="XM_006717015.5:453..1247"
                     /db_xref="GeneID:2220"
                     /db_xref="HGNC:HGNC:3624"
                     /db_xref="MIM:601624"
ORIGIN      
        1 mgpallalsf lwtmaltedt cpgergppgp pgkagppgpn gapgepqpcl tgprtckdll
       61 drghflsgwh tiylpdcrpl tvlcdmdtdg ggwtvfqrrv dgsvdfyrdw atykqgfgsr
      121 lgefwlgndn ihaltaqgts elrvdlvdfe dnyqfakyrs fkvadeaeky nlvlgafveg
      181 sagdsltfhn nqsfstkdqd ndlntgncav mfqgawwykn chvsnlngry lrgthgsfan
      241 ginwksgkgy nysykvsemk vrpa
//
LOCUS       XP_054184513            1845 aa            linear   PRI 20-MAR-2023
DEFINITION  mediator of DNA damage checkpoint protein 1 isoform X9 [Homo
            sapiens].
ACCESSION   XP_054184513
VERSION     XP_054184513.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328538.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167244.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1845
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1845
                     /product="mediator of DNA damage checkpoint protein 1
                     isoform X9"
                     /calculated_mol_wt=199835
     CDS             1..1845
                     /gene="MDC1"
                     /gene_synonym="NFBD1"
                     /coded_by="XM_054328538.1:180..5717"
                     /db_xref="GeneID:9656"
                     /db_xref="HGNC:HGNC:21163"
                     /db_xref="MIM:607593"
ORIGIN      
        1 mghptfptcq qfpsrvayfq imedtqaidw dveeeeeteq sseslrcnve pvgrlhifsg
       61 ahgpekdfpl hlgknvvgrm pdcsvalpfp siskqhaeie ilawdkapil rdcgslngtq
      121 ilrppkvlsp gvshrlrdqe lilfadllcq yhrldvslpf vsrgpltvee tprvqgetqp
      181 qrlllaedse eevdflserr mvkksrttss svivpesdee ghspvlgglg ppfafnlnsd
      241 tdveegqqpa teeassaarr gatveakqse aevvteiqle kdqplvkerd ndtkvkrgag
      301 ngvvpagvil ersqppgeds dtdvdddsrp pgrpaevhle raqpfgfids dtdaeeerip
      361 atpvvipmkk rkifhgvgtr gpgapglahl qesqagsdtd veegkapqav pleksqasmv
      421 insdtddeee vsaaltlahl kesqpaiwnr daeedmpqrv vllqrsqttt erdsdtdvee
      481 eelpvenrea vlkdhtkira lvrahsekdq ppfgdsddsv eadksspgih lersqasttv
      541 dintqvekev ppgsaiihik khqvsvegtn qtdvkavggp akllvvslee awplhgdcet
      601 daeegtslta svvadvrksq lpaegdagae waaavlkqer ahevgaqggp pvaqveqdlp
      661 isrenltdlv vdtdtlgest qpqregaqvp tgrereqhvg gtkdsednyg dsedldlqat
      721 qcflenqgle vqsmedeptq afmltppqel gpshcsfqtt gllnckmppa ekasriraae
      781 kvsrgdqesp daclpptvpe apappqkpln sqsqkhlapp pllspllpsi kptvrktrqd
      841 gsqeapeapl sselepfhpk pkirtrkssr mtpfpatsaa pephpststa qpvtpkptsq
      901 atrsrtnrss vktpepvvpt apelqpstst dqpvtsepts qvtrgrksrs svktpetvvp
      961 talelqpsts tdrpvtsept sqatrgrknr ssvktpepvv ptapelqpst stdqpvtsep
     1021 tyqatrgrkn rssvktpepv vptapelrps tstdrpvtpk ptsrttrsrt nmssvktpet
     1081 vvptapelqi ststdqpvtp kptsrttrsr tnmssvknpe stvpiapelp pststeqpvt
     1141 peptsratrg rknrssgktp etlvptapkl epststdqpv tpeptsqatr grtnrssvkt
     1201 petvvptape lqpststdqp vtpeptsqat rgrtdrssvk tpetvvptap elqasastdq
     1261 pvtseptsrt trgrknrssv ktpetvvpaa pelqpststd qpvtpeptsr atrgrtnrss
     1321 vktpesivpi apelqpstsr nqlvtpepts ratrcrtnrs svktpepvvp tapephptts
     1381 tdqpvtpklt sratrrktnr ssvktpkpve paasdlepft ptdqsvtpea iaqggqsktl
     1441 rsstvrampv pttpefqspv ttdqpispep itqpscikrq raagnpgsla apidhkpcsa
     1501 plepksqasr nqrwgavraa esltaipepa spqlletpih asqiqkvepa grsrftpelq
     1561 pkasqsrkrs latmdspphq kqpqrgevsq ktviikeeee dtaekpgkee dvvtpkpgkr
     1621 krdqaeeepn ripsrslrrt klnqestapk vlftgvvdar geravlalgg slagsaaeas
     1681 hlvtdrirrt vkflcalgrg ipilsldwlh qsrkagfflp pdeyvvtdpe qeknfgfslq
     1741 dalsrarerr llegyeiyvt pgvqppppqm geiisccggt ylpsmprsyk pqrvvitcpq
     1801 dfphcsiplr vglpllspef lltgvlkqea kpeafvlspl emsst
//
LOCUS       XP_054187055             414 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIFC1 isoform X6 [Homo sapiens].
ACCESSION   XP_054187055
VERSION     XP_054187055.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331080.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..414
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..414
                     /product="kinesin-like protein KIFC1 isoform X6"
                     /calculated_mol_wt=45560
     CDS             1..414
                     /gene="KIFC1"
                     /gene_synonym="HSET; KNSL2"
                     /coded_by="XM_054331080.1:164..1408"
                     /db_xref="GeneID:3833"
                     /db_xref="HGNC:HGNC:6389"
                     /db_xref="MIM:603763"
ORIGIN      
        1 mdpqrsplle vkgnielkrp likapsqlpl sgsrlkrrpd qmedglepek krtrglgatt
       61 kittshprvp slttvpqtqg qttaqkvskk tgprcstaia tglknqkpvp avpvqksgts
      121 gvppmaggkk pskrpawdlk gqlcdlnael krcrertqtl dqenqqlqdq lrdaqqqvka
      181 lgterttleg hlakvqaqae qgqqelknlr acvleleerl stqeglvqel qkkqvelqee
      241 rrglmsqlee kevdallhla rqnravarta qnerssrshs vfqlqisgeh ssrglqcgap
      301 lslvdlagse rldpglalgp gererlretq ainsslstlg lvimalsnke shvpyrnskl
      361 tyllqnslgg sakmlmfvni spleenvses lnslrfaskv rlppvslvrt rgwl
//
LOCUS       XP_054187935             302 aa            linear   PRI 20-MAR-2023
DEFINITION  NAD-dependent protein deacetylase sirtuin-2 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054187935
VERSION     XP_054187935.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331960.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_014040929.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..302
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     Protein         1..302
                     /product="NAD-dependent protein deacetylase sirtuin-2
                     isoform X3"
                     /calculated_mol_wt=33755
     CDS             1..302
                     /gene="SIRT2"
                     /gene_synonym="SIR2; SIR2L; SIR2L2"
                     /coded_by="XM_054331960.1:98..1006"
                     /db_xref="GeneID:22933"
                     /db_xref="HGNC:HGNC:10886"
                     /db_xref="MIM:604480"
ORIGIN      
        1 maepdpshpl etqagkvqea qdsdsdsegg aaggeadmdf lrnlfsqtls lgsqkerlld
       61 eltlegvary mqsercrrvi clvgagists agipdfrsps tglydnleky hlpypeaife
      121 isyfkkhpep ffalakelyp gqfkptichy fmrllkdkgl llrcytqnid tleriagleq
      181 edlveahgtf ytshcvsasc rheyplswmk ekifsevtpk cedcqslvkp divffgeslp
      241 arffscmqsd flkvdlllvm gtslqvqpfa sliskaplst prllinkeka gqetktqrgq
      301 vt
//
LOCUS       XP_054190583             791 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein GLIS1 isoform X1 [Homo sapiens].
ACCESSION   XP_054190583
VERSION     XP_054190583.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334608.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..791
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..791
                     /product="zinc finger protein GLIS1 isoform X1"
                     /calculated_mol_wt=83833
     CDS             1..791
                     /gene="GLIS1"
                     /coded_by="XM_054334608.1:103..2478"
                     /db_xref="GeneID:148979"
                     /db_xref="HGNC:HGNC:29525"
                     /db_xref="MIM:610378"
ORIGIN      
        1 mhcevaeahs dkrpkeapga pgpdrgpasl gahmafrvtv sgggcgdrgp rdllarppap
       61 pprahdllrp rsprdygpsk aaaagkvngs yghrtlgsek slldldlaeg pgptccqglf
      121 lpagspqpra hpqacerllh fphpnrsprp qatyvngslp ttqhikqesl pdyqamaear
      181 tslsahcrgp latglhpdld lpgrslatpa pscyllgsep ssglglqpet hlpegslkrc
      241 cvlglpptsp assspcassd vtsiirssqt slvtcvnglr sppltgdlgg pskrarpgpa
      301 stdshegslq leacrkasfl kqepadefse lfgphqqglp ppyplsqlpp gpslgglglg
      361 lagrvvagrq acrwvdccaa yeqqeelvrh iekshidqrk gedftcfwag cvrrykpfna
      421 rykllihmrv hsgekpnkcm fegcskafsr lenlkihlrs htgekpylcq hpgcqkafsn
      481 ssdrakhqrt hldtkpyacq ipgcskrytd psslrkhvka hsakeqqlha gpdteadvlt
      541 eclvlqqlht stqlaasdgk ggcglgqell pgvypgsitp hnglasgllp pahdvpsrhh
      601 pldattsshh hlsplpmaes trdglgpgll spivsplkgl gppplppssq shspggqpfp
      661 tlpskpsypp fqsppppplp spqgyqgsfh siqscfpygd cyrmaepaag gdglvgethg
      721 fnplrpngyh slstplpatg yealaeascp talpqqpsed vvssgpedcg ffpngafdhc
      781 lghipsiytd t
//
LOCUS       XP_054192023             420 aa            linear   PRI 20-MAR-2023
DEFINITION  kelch-like protein 20 isoform X6 [Homo sapiens].
ACCESSION   XP_054192023
VERSION     XP_054192023.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336048.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..420
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..420
                     /product="kelch-like protein 20 isoform X6"
                     /calculated_mol_wt=46359
     CDS             1..420
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /coded_by="XM_054336048.1:133..1395"
                     /db_xref="GeneID:27252"
                     /db_xref="HGNC:HGNC:25056"
                     /db_xref="MIM:617679"
ORIGIN      
        1 mvhgrkanaq vmeseefmll panqlidiis sdelnvrsee qvfnavmawv kysiqerrpq
       61 lpqvlqhvrl pllspkflvg tvgsdpliks deecrdlvde aknylllpqe rplmqgprtr
      121 prkpircgev lfavggwcsg daissveryd pqtnewrmva smskrrcgvg vsvlddllya
      181 vgghdgssyl nsverydpkt nqwssdvapt stcrtsvgva vlggflyavg gqdgvsclni
      241 verydpkenk wtrvasmstr rlgvavavlg gflyavggsd gtsplntver ynpqenrwht
      301 iapmgtrrkh lgcavyqdmi yavggrddtt elssaerynp rtnqwspvva mtsrrsgvgl
      361 avvngqlmav ggfdgttylk tievfdpdan twrlyggmny rrlgggvgvi kmthceshiw
//
LOCUS       XP_054192440             387 aa            linear   PRI 20-MAR-2023
DEFINITION  potassium voltage-gated channel subfamily D member 3 isoform X3
            [Homo sapiens].
ACCESSION   XP_054192440
VERSION     XP_054192440.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336465.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..387
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..387
                     /product="potassium voltage-gated channel subfamily D
                     member 3 isoform X3"
                     /calculated_mol_wt=44064
     CDS             1..387
                     /gene="KCND3"
                     /gene_synonym="BRGDA9; KCND3L; KCND3S; KSHIVB; KV4.3;
                     SCA19; SCA22"
                     /coded_by="XM_054336465.1:237..1400"
                     /db_xref="GeneID:3752"
                     /db_xref="HGNC:HGNC:6239"
                     /db_xref="MIM:605411"
ORIGIN      
        1 maagvaawlp faraaaigwm pvancpmpla padknkrqde livlnvsgrr fqtwrttler
       61 ypdtllgste kefffnedtk eyffdrdpev frcvlnfyrt gklhypryec isayddelaf
      121 ygilpeiigd ccyeeykdrk renaerlmdd ndsennqesm pslsfrqtmw rafenphtst
      181 lalvfyyvtg ffiavsvitn vvetvpcgtv pgskelpcge rysvaffcld tacvmiftve
      241 yllrlfaaps ryrfirsvms iidvvaimpy yiglvmtnne dvsgafvtlr vfrvfrifkf
      301 srhsqglril gytlkscase lgfllfsltm aiiifatvmf yaekgssask ftsipasfwy
      361 tivtmttlgp saappgqrgr shrrvhs
//
LOCUS       XP_054194841             602 aa            linear   PRI 20-MAR-2023
DEFINITION  threonine--tRNA ligase, mitochondrial isoform X4 [Homo sapiens].
ACCESSION   XP_054194841
VERSION     XP_054194841.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338866.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..602
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..602
                     /product="threonine--tRNA ligase, mitochondrial isoform
                     X4"
                     /calculated_mol_wt=67784
     CDS             1..602
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /coded_by="XM_054338866.1:33..1841"
                     /db_xref="GeneID:80222"
                     /db_xref="HGNC:HGNC:30740"
                     /db_xref="MIM:612805"
ORIGIN      
        1 malyqrwrcl rlqglqacrl htavvstppr wlaerlglfe elwaaqvkrl asmaqkeprt
       61 ikislpggqk idavawnttp yqlarqisst ladtavaaqv ngepydlerp letdsdlrfl
      121 tfdspegkav fwhssthvlg aaaeqflgav lcrgpsteyg fyhdfflgke rtirgselpv
      181 lericqelta aarpfrrlea srdqlrqlfk dnpfklhlie ekvtgptatv ygcgtlvdlc
      241 qgphlrhtgq igglkllsae yahrgfsevk tptlfstklw eqsghwehyq edmfavqppg
      301 sdrppssqsd dstrhitdtl alkpmncpah clmfahrprs wrelplrlad fgalhraeas
      361 gglggltrlr cfqqddahif cttdqleaei qscldflrsv yavlgfsfrl alstrpsgfl
      421 gdpclwdqae qvlkqalkef gepwdlnsgd gafygpkidv hlhdalgrph qcgtiqldfq
      481 lplrfdlqyk gplwlspfqv vvipvgseqe eyakeaqqsl raaglvsdld adsgltlsrr
      541 irraqlahyn fqfvvgqkeq skrtvnirtr dnrrlgewdl peavqrlvel qntrvpnaee
      601 if
//
LOCUS       XP_054220812             361 aa            linear   PRI 20-MAR-2023
DEFINITION  cAMP-responsive element modulator isoform X1 [Homo sapiens].
ACCESSION   XP_054220812
VERSION     XP_054220812.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364837.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..361
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..361
                     /product="cAMP-responsive element modulator isoform X1"
                     /calculated_mol_wt=38809
     CDS             1..361
                     /gene="CREM"
                     /gene_synonym="CREM-2; hCREM-2; ICER"
                     /coded_by="XM_054364837.1:396..1481"
                     /db_xref="GeneID:1390"
                     /db_xref="HGNC:HGNC:2352"
                     /db_xref="MIM:123812"
ORIGIN      
        1 mskcarkkyi ktnprqmtme tvesqhdgsi tasltesksa hvqtqtgqns ipalaqvsva
       61 gsgtrrgspa vtlvqlpsgq tihvqgviqt pqpwviqsse ihtvqvaaia etdesaeseg
      121 vidshkrrei lsrrpsyrki lnelssdvpg vpkieeerse eegtppsiat mavptsiyqt
      181 stgqyiaiaq ggtiqisnpg sdgvqglqal tmtnsgappp gativqyaaq sadgtqqffv
      241 pgsqvvvqde etelapshma aatgdmptyq iraptaalpq gvvmaaspgs lhspqqlaee
      301 atrkrelrlm knreaakecr rrkkeyvkcl esrvavlevq nkklieelet lkdicspktd
      361 y
//
LOCUS       XP_054222240             405 aa            linear   PRI 20-MAR-2023
DEFINITION  RUN and FYVE domain-containing protein 2 isoform X16 [Homo
            sapiens].
ACCESSION   XP_054222240
VERSION     XP_054222240.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366265.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..405
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..405
                     /product="RUN and FYVE domain-containing protein 2 isoform
                     X16"
                     /calculated_mol_wt=46589
     CDS             1..405
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /coded_by="XM_054366265.1:416..1633"
                     /db_xref="GeneID:55680"
                     /db_xref="HGNC:HGNC:19761"
                     /db_xref="MIM:610328"
ORIGIN      
        1 mtfqvwgwrr edasqvlawv pdaeggrrgm ltrrslatkd ptaveranll nmaklsikgl
       61 iesalsfgrt ldsdypplqq ffvvmehclk hglkvrksfl synktiwgpl elveklypea
      121 eeigasvrdl pglktplgra rawlrlalmq kkmadylrcl iiqrdllsef yeyhalmmee
      181 egavivgllv glnvidanlc vkgedldsqv gvidfsmylk needignker nvqiaaildq
      241 knyveelnrq lnstvsslhs rvdsleksnt klieelaiak nniiklqeen hqlrsenkli
      301 lmktqqhlev tkvdvetelq tykhsrqgld emynearrql rdesqlrqdv enelavqvsm
      361 kheielamkl lekdihekqd tliglrqqle evkainiemy qklqf
//
LOCUS       XP_054223697             637 aa            linear   PRI 20-MAR-2023
DEFINITION  X-ray radiation resistance-associated protein 1 isoform X15 [Homo
            sapiens].
ACCESSION   XP_054223697
VERSION     XP_054223697.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367722.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..637
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..637
                     /product="X-ray radiation resistance-associated protein 1
                     isoform X15"
                     /calculated_mol_wt=72457
     CDS             1..637
                     /gene="XRRA1"
                     /coded_by="XM_054367722.1:182..2095"
                     /db_xref="GeneID:143570"
                     /db_xref="HGNC:HGNC:18868"
                     /db_xref="MIM:609788"
ORIGIN      
        1 malppcrpiw psqnnrgsrp rdaqhqpevt qqakqqqhrs qssgilatlp mhlliweasv
       61 tsltskryil rfpaletlml ddnrlsnpsc faslaglrrl kklsldenri iripylqqvq
      121 lydesvdwng grgsphkepq fmlqskprml edsdeqldyt vlpmkkdvdr tevvfssypg
      181 fstsettkic slppifeilp vkslkarnqt lappfpelry lslaynkiak edavlpvalf
      241 pslcefvfhn nplvahtrgv ppllksflqe rlgihlirrk ivkpkhhvlm srkeswkvks
      301 eipkvpkqpl vlhhprmrtt kspskdmlep eaelaedlpt tkstsvesem ptenleghsp
      361 scrtfvplpp icsnstvhse etlshlsdtt vrlsperpsd edskstesif ltqvselpss
      421 vihkddlelk ekdqkkppta prevkgtrrk lptaflpsky hgyeelltak pdpafiepkg
      481 iqknaqalqq mlkhpllchs skpkldtlqk pyvhkekraq ripipppkkt raqllddifi
      541 rlrdprnite aplgavlhqw terrlvnhkq yleakrllke fqaryrqlvs gslrtvfgtt
      601 plpmacpals esqpkfghfl efmdefcqep tasdsqg
//
LOCUS       XP_054224074            1377 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 164 kDa isoform X42 [Homo sapiens].
ACCESSION   XP_054224074
VERSION     XP_054224074.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368099.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1377
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1377
                     /product="centrosomal protein of 164 kDa isoform X42"
                     /calculated_mol_wt=155029
     CDS             1..1377
                     /gene="CEP164"
                     /gene_synonym="NPHP15"
                     /coded_by="XM_054368099.1:391..4524"
                     /db_xref="GeneID:22897"
                     /db_xref="HGNC:HGNC:29182"
                     /db_xref="MIM:614848"
ORIGIN      
        1 magrplrigd qlvleedyde tyipseqeil efareigidp ikepelmwla regivaplpg
       61 ewkpcqditg diyyfnfang qsmwdhpcde hyrslviqer aklstsgaik kkkkkkekkd
      121 kkdrdppkss lalgsslapv hvplgglapl rglvdtppsa lrgsqsvslg ssvesgrqlg
      181 elmlpsqglk tsaytkgllg siyedktals llglgeetne edeeesdnqe slrtsqpeek
      241 kdvsldsdaa gpptpckpss pgadsslssa vgkgrqgsga rpglpekeen eksepkicrn
      301 lvtpkadptg sepakaseke apedtvdage egsrreeaak epkkkasale egssdasqel
      361 eisehmkepq lsdsiasdpk sfhgldfgfr srisehlldv dvlspvlgga crqaqqplgi
      421 edkddsqssq delqskqskg leerlspplp heeraqsppr slateeeppq gpegqpewke
      481 aeelgedsaa slslqlslqr rstepvappe qlseaalkam eeavaqvleq dqrhlleskq
      541 ekmqqlrekl cqeeeeeilr lhqqkeqsls slrerlqkai eeeearmree esqrlswlra
      601 qvqsstqade dqiraeqeas lqklreeles qqkaerasle qknrqmleql keeieaseks
      661 eqaalnaake kalqqlreql egerkeavat lekehsaele rlcssleakh revvsslqkk
      721 iqeaqqkeea qlqkclgqve hrvhqksyhv agyehelssl lrekrqeveg eherrldkmk
      781 eehqqvmaka reqyeaeerk qraellghlt gelerlqrah ereletvrqe qhkrledlrr
      841 rhreqerklq dleldletra kdvkarlall evqeetarre kqqlldvqrq valkseeata
      901 thqqleeaqk ehthllqsnq qlreildelq arklklesqv dllqaqsqql qkhfssleae
      961 aqkkqhllre vtveennasp hfepdlhied lrkslgtnqt kevssslsqs kedlyldsls
     1021 shnvwhllsa egvalrsake flvqqtrsmr rrqtalkaaq qhwrhelasa qevakdppgi
     1081 kaledmrknl eketrhldem ksamrkghnl lkkkeeklnq lesslweeas degtlggspt
     1141 kkavtfdlsd mdslssesse sfspphldst psltsrkihg lshslrqiss qlssvlsild
     1201 slnpqspppl lasmpaqlpp rdpkstptpt yygslarfsa lssatptstq wawdsgqgpr
     1261 lpssvaqtvd dfllekwrky fpsgipllsn sptplesrlg ymsaseqlrl lqhshsqvpe
     1321 agsttfqgii eanrrwlerv kndprlplfs stpkpkatls llqlgldehn rvkvyrf
//
LOCUS       XP_054224218             693 aa            linear   PRI 20-MAR-2023
DEFINITION  glutamate carboxypeptidase 2 isoform X4 [Homo sapiens].
ACCESSION   XP_054224218
VERSION     XP_054224218.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368243.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..693
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..693
                     /product="glutamate carboxypeptidase 2 isoform X4"
                     /calculated_mol_wt=77844
     CDS             1..693
                     /gene="FOLH1"
                     /gene_synonym="FGCP; FOLH; GCP2; GCPII; mGCP; NAALAD1;
                     PSM; PSMA"
                     /coded_by="XM_054368243.1:99..2180"
                     /db_xref="GeneID:2346"
                     /db_xref="HGNC:HGNC:3788"
                     /db_xref="MIM:600934"
ORIGIN      
        1 mkafldelka enikkflhnf tqiphlagte qnfqlakqiq sqwkefglds velahydvll
       61 sypnkthpny isiinedgne ifntslfepp ppgyenvsdi vppfsafspq gmpegdlvyv
      121 nyartedffk lerdmkincs gkiviarygk vfrgnkvkna qlagakgvil ysdpadyfap
      181 gvksypdgwn lpgggvqrgn ilnlngagdp ltpgypaney ayrrgiaeav glpsipvhpi
      241 gyydaqklle kmggsappds swrgslkvpy nvgpgftgnf stqkvkmhih stnevtriyn
      301 vigtlrgave pdryvilggh rdswvfggid pqsgaavvhe ivrsfgtlkk egwrprrtil
      361 faswdaeefg llgstewaee nsrllqergv ayinadssie gnytlrvdct plmyslvhnl
      421 tkelkspdeg fegkslyesw tkkspspefs gmprisklgs gndfevffqr lgiasgrary
      481 tknwetnkfs gyplyhsvye tyelvekfyd pmfkyhltva qvrggmvfel ansivlpfdc
      541 rdyavvlrky adkiysismk hpqemktysv sfdslfsavk nfteiaskfs erlqdfdksn
      601 pivlrmmndq lmflerafid plglpdrpfy rhviyapssh nkyagesfpg iydalfdies
      661 kvdpskawge vkrqiyvaaf tvqaaaetls eva
//
LOCUS       XP_054227695             366 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 385A isoform X3 [Homo sapiens].
ACCESSION   XP_054227695
VERSION     XP_054227695.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371720.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..366
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..366
                     /product="zinc finger protein 385A isoform X3"
                     /calculated_mol_wt=38211
     CDS             1..366
                     /gene="ZNF385A"
                     /gene_synonym="HZF; RZF; ZFP385; ZNF385"
                     /coded_by="XM_054371720.1:262..1362"
                     /db_xref="GeneID:25946"
                     /db_xref="HGNC:HGNC:17521"
                     /db_xref="MIM:609124"
ORIGIN      
        1 mqppldlkqi lpfplepapt lglfsnystm dpvqkavlsh tfggpllktk rpviscnicq
       61 irfnsqsqae ahykgnrhar rvkgieaakt rgrepgvrep gdpappgstp tngdgvaprp
      121 vsmenglgpa pgspekqpgs psppsipetg qgvtkgeggt papaslpggs keeeekakrl
      181 lycalckvav nslsqleahn kgtkhktile arsglgpika yprlgpptpg epeapaqdrt
      241 fhceicnvkv nsevqlkqhi ssrrhrdgva gkpnpllsrh kksrgagela gtltfskelp
      301 kslaggllps plavaavmaa aagsplslrp apaapllqgp pithpllhpa pgpirtahgp
      361 ilfspy
//
LOCUS       XP_054227894            2172 aa            linear   PRI 20-MAR-2023
DEFINITION  acetyl-CoA carboxylase 2 isoform X6 [Homo sapiens].
ACCESSION   XP_054227894
VERSION     XP_054227894.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371919.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2172
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2172
                     /product="acetyl-CoA carboxylase 2 isoform X6"
                     /calculated_mol_wt=243100
     CDS             1..2172
                     /gene="ACACB"
                     /gene_synonym="ACACbeta; ACC-beta; ACC2; ACCB; ACCbeta;
                     HACC275"
                     /coded_by="XM_054371919.1:1756..8274"
                     /db_xref="GeneID:32"
                     /db_xref="HGNC:HGNC:85"
                     /db_xref="MIM:601557"
ORIGIN      
        1 mvlllclscl ifscltfswl kiwgkmtdsk pitksksean lipsqepfpa sdnsgetpqr
       61 ngeghtlpkt psqaepashk gpkdagrrrn slppshqkpp rnplsssdaa pspelqangt
      121 gtqgleatdt nglsssarpq gqqagspske dkkqanikrq lmtnfilgsf ddyssdedsv
      181 agssrestrk gsraslgals leaylttgea etrvptmrps msglhlvkrg rehkkldlhr
      241 dftvaspaef vtrfggdrvi ekvlianngi aavkcmrsir rwayemfrne rairfvvmvt
      301 pedlkanaey ikmadhyvpv pggpnnnnya nvelivdiak ripvqavwag wghasenpkl
      361 pellckngva flgppseamw algdkiastv vaqtlqvptl pwsgsgltve wteddlqqgk
      421 risvpedvyd kgcvkdvdeg leaaerigfp lmikaseggg gkgirkaesa edfpilfrqv
      481 qseipgspif lmklaqharh levqiladqy gnavslfgrd csiqrrhqki veeapatiap
      541 laifefmeqc airlaktvgy vsagtveyly sqdgsfhfle lnprlqvehp ctemiadvnl
      601 paaqlqiamg vplhrlkdir llygespwgv tpisfetpsn pplarghvia aritsenpde
      661 gfkpssgtvq elnfrssknv wgyfsvaatg glhefadsqf ghcfswgenr eeaisnmvva
      721 lkelsirgdf rttveylinl letesfqnnd idtgwldyli aekvqaekpd imlgvvcgal
      781 nvadamfrtc mtdflhsler gqvlpadsll nlvdveliyg gvkyilkvar qsltmfvlim
      841 ngchieidah rlndggllls yngnsyttym keevdsyrit ignktcvfek endptvlrsp
      901 sagkltqytv edgghveags syaemevmkm imtlnvqerg rvkyikrpga vleagcvvar
      961 lelddpskvh paepftgelp aqqtlpilge klhqvfhsvl enltnvmsgf clpepvfsik
     1021 lkewvqklmm tlrhpslpll elqeimtsva gripapveks vrrvmaqyas nitsvlcqfp
     1081 sqqiatildc haatlqrkad revffintqs ivqlvqryrs girgymktvv ldllrrylrv
     1141 ehhfqqahyd kcvinlreqf kpdmsqvldc ifshaqvakk nqlvimlide lcgpdpslsd
     1201 elisilnelt qlsksehckv alrarqilia shlpsyelrh nqvesiflsa idmyghqfcp
     1261 enlkklilse ttifdvlptf fyhankvvcm aslevyvrrg yiayelnslq hrqlpdgtcv
     1321 vefqfmlpss hpnrmtvpis itnpdllrhs telfmdsgfs plcqrmgamv afrrfedftr
     1381 nfdeviscfa nvpkdtplfs eartslysed dckslreepi hilnvsiqca dhledealvp
     1441 ilrtfvqskk nilvdyglrr itfliaqeke fpkfftfrar defaedriyr hlepalafql
     1501 elnrmrnfdl tavpcanhkm hlylgaakvk egvevtdhrf firaiirhsd litkeasfey
     1561 lqnegerlll eamdelevaf nntsvrtdcn hiflnfvptv imdpfkiees vrymvmrygs
     1621 rlwklrvlqa evkinirqtt tgsavpirlf itnesgyyld islykevtds rsgnimfhsf
     1681 gnkqgpqhgm lintpyvtkd llqakrfqaq tlgttyiydf pemfrqalfk lwgspdkypk
     1741 diltytelvl dsqgqlvemn rlpggnevgm vafkmrfktq eypegrdviv ignditfrig
     1801 sfgpgedlly lraskmarae gipkiyvaan sgarigmaee ikhmfhvawv dpedphkgfk
     1861 ylyltpqdyt risslnsvhc khieeggesr ymitdiigkd dglgvenlrg sgmiagessl
     1921 ayeeivtisl vtcraigiga ylvrlgqrvi qvenshiilt gasalnkvlg revytsnnql
     1981 ggvqimhyng vshitvpddf egvytilewl sympkdnhsp vpiitpidpi dreieflpsr
     2041 apydprwmla grphptlkgt wqsgffdhgs fkeimapwaq tvvtgrarlg gipvgviave
     2101 trtvevavpa dpanldseak lcvpdnsagr tgvvprlslq nrpghqglqp gevapddlcq
     2161 legvlrwher hv
//
LOCUS       XP_054228151             460 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-1 receptor-associated kinase 4 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054228151
VERSION     XP_054228151.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372176.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..460
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..460
                     /product="interleukin-1 receptor-associated kinase 4
                     isoform X1"
                     /calculated_mol_wt=51429
     CDS             1..460
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /coded_by="XM_054372176.1:260..1642"
                     /db_xref="GeneID:51135"
                     /db_xref="HGNC:HGNC:17967"
                     /db_xref="MIM:606883"
ORIGIN      
        1 mnkpitpsty vrclnvglir klsdfidpqe gwkklavaik kpsgddrynq fhirrfeall
       61 qtgksptsel lfdwgttnct vgdlvdlliq neffapasll lpdavpktan tlpskeaitv
      121 qqkqmpfcdk drtlmtpvqn leqsymppds sspenkslev sdtrfhsfsf yelknvtnnf
      181 derpisvggn kmgeggfgvv ykgyvnnttv avkklaamvd itteelkqqf dqeikvmakc
      241 qhenlvellg fssdgddlcl vyvympngsl ldrlscldgt pplswhmrck iaqgaangin
      301 flhenhhihr diksanilld eaftakisdf glarasekfa qtvmtsrivg ttaymapeal
      361 rgeitpksdi ysfgvvllei itglpavdeh repqllldik eeiedeekti edyidkkmnd
      421 adstsvetmy svasqclhek knkrpdikkv qqllqemtas
//
LOCUS       XP_054228473            1657 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF21A isoform X4 [Homo sapiens].
ACCESSION   XP_054228473
VERSION     XP_054228473.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372498.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1657
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1657
                     /product="kinesin-like protein KIF21A isoform X4"
                     /calculated_mol_wt=185133
     CDS             1..1657
                     /gene="KIF21A"
                     /gene_synonym="CFEOM1; FEOM1; FEOM3A"
                     /coded_by="XM_054372498.1:151..5124"
                     /db_xref="GeneID:55605"
                     /db_xref="HGNC:HGNC:19349"
                     /db_xref="MIM:608283"
ORIGIN      
        1 mlgapdessv rvavrirpql akekiegchi ctsvtpgepq vflgkdkaft fdyvfdidsq
       61 qeqiyiqcie kliegcfegy natvfaygqt gagktytmgt gfdvniveee lgiisravkh
      121 lfksieekkh iaiknglpap dfkvnaqfle lyneevldlf dttrdidaks kksnirihed
      181 stggiytvgv ttrtvntese mmqclklgal srttastqmn vqssrshaif tihvcqtrvc
      241 pqidadnatd nkiisesaqm nefetltakf hfvdlagser lkrtgatger akegisincg
      301 llalgnvisa lgdkskrath vpyrdskltr llqdslggns qtimiacvsp sdrdfmetln
      361 tlkyanrarn iknkvmvnqd rasqqinalr seitrlqmel meyktgkrii deegvesind
      421 mfhenamlqt ennnlrvrik amqetvdalr sritqlvsdq anhvlarage gneeisnmih
      481 syikeiedlr aklleseavn enlrknltra tarapyfsgs stfsptilss dketieiidl
      541 akkdleklkr kekrkkkrlq kleesnreer svagkedntd tdqekkeekg vserennele
      601 veesqevsdh edeeeeeeee eddidggess desdsesdek anyqadlani tceiaikqkl
      661 idelensqkr lqtlkkqyee klmmlqhkir dtqlerdqvl qnlgsvesys eekakkvrse
      721 yekklqamnk elqrlqaaqk eharllknqs qyekqlkklq qdvmemkktk vrlmkqmkee
      781 qekarltesr rnreiaqlkk dqrkrdhqlr lleaqkrnqe vvlrrkteev talrrqvrpm
      841 sdkvagkvtr klsssdapaq dtgssaaave tdasrtgaqq kmripvarvq alptpatngn
      901 rkkyqrkglt grvfisktar mkwqllerrv tdiimqkmti snmeadmnrl lkqreeltkr
      961 reklskrrek ivkengegdk nvanineeme sltanidyin dsisdcqani mqmeeakeeg
     1021 etldvtavin actltearyl ldhflsmgin kglqaaqkea qikvlegrlk qteitsatqn
     1081 qllfhmlkek aelnpeldal lghalqdlds vplenvedst dedaplnspg segstlssdl
     1141 mklcgevkpk nkarrrtttq mellyadsse lasdtstgda slpgpltpva egqeigmnte
     1201 tsgtsareke lspppglpsk igsisrqssl sekkipepsp vtrrkayeka ekskakeqkh
     1261 sdsgtseasl sppssppsrp rnelnvfnrl tvsqgntsvq qdkgiinpfp askgirafpl
     1321 qcihiaeght kavlcvdstd dllftgskdr tckvwnlvtg qeimslgghp nnvvsvkycn
     1381 ytslvftvst syikvwdird sakcirtlts sgqvtlgdac sastsrtvai psgenqinqi
     1441 alnptgtfly aasgnavrmw dlkrfqstgk ltghlgpvmc ltvdqissgq dliitgskdh
     1501 yikmfdvteg algtvspthn fepphydgie altiqgdnlf sgsrdngikk wdltqkdllq
     1561 qvpnahkdwv calgvvpdhp vllsgcrggi lkvwnmdtfm pvgemkghds pinaicvnst
     1621 hiftaaddrt vriwkarnlq dgqisdtgdl gediasn
//
LOCUS       XP_054229389             743 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 44 isoform X1 [Homo sapiens].
ACCESSION   XP_054229389
VERSION     XP_054229389.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373414.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..743
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..743
                     /product="ubiquitin carboxyl-terminal hydrolase 44 isoform
                     X1"
                     /calculated_mol_wt=84364
     CDS             1..743
                     /gene="USP44"
                     /coded_by="XM_054373414.1:349..2580"
                     /db_xref="GeneID:84101"
                     /db_xref="HGNC:HGNC:20064"
                     /db_xref="MIM:610993"
ORIGIN      
        1 mlamdtckhv gqlqlaqdhs slnpqkwhcv dcnttesiwa clscshvacg ryieehalkh
       61 fqesshpval evnemyvfcy lcddyvlndn atgdlkllrr tlsaiksqny hcttrsgrfl
      121 rsmgtgddsy flhdgaqsll qsedqlytal whrrrilmgk ifrtwfeqsp igrkkqeepf
      181 qekivvkrev kkrrqeleyq vkaelesmpp rkslrlqgla qstiieivsv qvpaqtpasp
      241 akdkvlstse neisqkvsds svkrrpivtp gvtglrnlgn tcymnsvlqv lshllifrqc
      301 flkldlnqwl amtasektrs ckhppvtdtv vyqmnecqek dtgfvcsrqs slssglsgga
      361 skgrkmeliq pkeptsqyis lchelhtlfq vmwsgkwalv spfamlhsvw rlipafrgya
      421 qqdaqeflce lldkiqrele ttgtslpali ptsqrklikq vlnvvnnifh gqllsqvtcl
      481 acdnksntie pfwdlslefp eryqcsgkdi asqpclvtem lakfteteal egkiyvcdqc
      541 nskrrrfssk pvvlteaqkq lmichlpqvl rlhlkrfstn slcilintll amlrssngky
      601 dqqtekitgw sgrnnrekig vhvgfeeiln mepyccretl kslrpecfiy dlsavvmhhg
      661 kgfgsghyta ycynseggfw vhcndsklsm ctmdevckaq ayilfytqrv tenghskllp
      721 pelllgsqhp nedadtssne ils
//
LOCUS       XP_054233974            2598 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-IXa isoform X9 [Homo sapiens].
ACCESSION   XP_054233974
VERSION     XP_054233974.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377999.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2598
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2598
                     /product="unconventional myosin-IXa isoform X9"
                     /calculated_mol_wt=297860
     CDS             1..2598
                     /gene="MYO9A"
                     /gene_synonym="CMS24"
                     /coded_by="XM_054377999.1:588..8384"
                     /db_xref="GeneID:4649"
                     /db_xref="HGNC:HGNC:7608"
                     /db_xref="MIM:604875"
ORIGIN      
        1 mnindggrrr fednehtlri ypgaisegti ycpiparkns taaeviesli nklhldktkc
       61 yvlaevkefg geewilnptd cpvqrmmlwp rmalenrlsg edyrfllrek nldgsihygs
      121 lqswlrvtee rrrmmergfl pqpqqkdfdd lcslpdlnek tllenlrnrf khekiytyvg
      181 silivinpfk flpiynpkyv kmydnhqlgk lephiyavad vayhamlqrk knqcivisge
      241 sgsgktqstn flihhltals qkgfasgveq iilgagpvle afgnaktahn nnssrfgkfi
      301 qvnyqetgtv lgayvekyll eksrlvyqeh nernyhvfyy llagaseder safhlkqpee
      361 yhylnqitkk plrqswddyc ydsepdcftv egedlrhdfe rlqlamemvg flpktrrqif
      421 sllsailhlg nicykkktyr ddsidicnpe vlpivselle vkeemlfeal vtrktvtvge
      481 klilpyklae avtvrnsmak slysalfdwi vfrinhalln skdlehntkt lsigvldifg
      541 fedyennsfe qfcinfaner lqhyfnqhif kleqeeyrte giswhnidyi dntccinlis
      601 kkptgllhll deesnfpqat nqtlldkfkh qhednsyief pavmepafii khyagkvkyg
      661 vkdfrekntd hmrpdivall rssknafisg migidpvavf rwailraffr amvafreagk
      721 rnihrktgit rknprtplsd lqgmnalnek nqhdtfdiaw ngrtgirqsr lssgtslldk
      781 dgifanstss kllerahgil trnknfkskp alpkhllevn slkhltrltl qdritksllh
      841 lhkkkkppsi saqfqaslsk lmetlgqaep yfvkcirsna eklplrfsdv lvlrqlrytg
      901 mletvrirqs gysskysfqd fvshfhvllp rniipskfni qdffrkinln pdnyqvgktm
      961 vflkeqerqh lqdllhqevl rriillqrwf rvllcrqhfl hlrqasviiq rfwrnylnqk
     1021 qvrdaavqkd afvmasaaal lqaswrahle rqrylelraa aiviqqkwrd yyrrrhmaai
     1081 ciqarwkayr eskryqeqrk kiillqstcr gfrarqrfka lkeqrlretk pevglvnikg
     1141 ygsleiqgsd psewedcsfd nrikaieeck sviesnrisr essvdclkes pnkqqeraqs
     1201 qsgvdlqedv lvrerprsle dlhqkkvgra kresrrmrel eqaifslell kvrslggisp
     1261 sedrrwstel vpeglqsprg tpdsessqgs lellsyeesq ksklesvisd egdlqfpspk
     1321 issspkfdsr dnalsasnet ssaehlkdgt mkemvvcsse sitckpqlkd sfisnslptf
     1381 fyipqqdplk tnsqldtsiq rnkllenedt agealtldin retrryhcsg kdqivpslnt
     1441 essnpvlkkl eklntekeer qkqlqqqnek emmeqirqqt dilekerkaf ktiekprige
     1501 clvapssyqs kqrverpssl lslntsnkge lnvlgslslk daalaqkdss sahlppkdrp
     1561 vtvfferkgs pcqsstvkel sktdrmgtql nvacklsnnr iskrehfrpt qsyshnsddl
     1621 sregnarpif ftpkdnmsip lvskealnsk npqlhkedep awkpvklagp gqreqvarpa
     1681 hkkkarmart rsdfltrgtf adgegdteed dyddiiepll sldqashcel gpapslgqas
     1741 hsdsemtsqr fssvdeqakl hktmsqgeit klavrqkasd sdirpqrakm rfwakgkqge
     1801 kkttrvkptt qsevsplfag tdvipahqfp delaayhptp plspelpgsc rkefkenkep
     1861 spkakrkrsv kisnvaldsm hwqndsvqii asvsdlksmd efllkkvndl dnedskkdtl
     1921 vdvvfkkalk efrqnifsfy ssalamddgk sirykdlyal feqilektmr leqrdslges
     1981 pvrvwvntfk vfldeymnef ktsdctatkv pkterkkrrk ketdlveehn ghifkatqys
     2041 iptyceycss liwimdrasv cklckyachk kcclkttakc skkydpelss rqfgvelsrl
     2101 tsedrtvplv veklinyiem hglytegiyr ksgstnkike lrqgldtdae svnlddynih
     2161 viasvfkqwl rdlpnplmtf elyeeflram glqerketir gvysvidqls rthlntlerl
     2221 ifhlvrialq edtnrmsana laivfapcil rcpdttdplq svqdiskttt cvelivveqm
     2281 nkykarlkdi sslefaenka ktrlslirrs mkpvliavrf mnitrnsvsg kgrirrgnyp
     2341 gpsspvvvrl psvsdvseet ltseaametd iteqqqaamq qeervlteqi enlqkekeel
     2401 tfemlvlepr asddetlese asigtadsse nlnmeseyai sekserslal sslktagkse
     2461 pssklrkqlk kqqdsldvvd ssvsslclsn tasshgtrkl fqiyskspfy raasgnealg
     2521 megplgqtkf ledkpqfisr gtfnpekgkq klknvknspq ktketpegtv msgrrktvdp
     2581 dctsnqqlal fgnnefmv
//
LOCUS       XP_054235306             232 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear pore complex-interacting protein family member A5 isoform
            X8 [Homo sapiens].
ACCESSION   XP_054235306
VERSION     XP_054235306.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379331.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..232
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..232
                     /product="nuclear pore complex-interacting protein family
                     member A5 isoform X8"
                     /calculated_mol_wt=27085
     CDS             1..232
                     /gene="NPIPA5"
                     /gene_synonym="NPIP"
                     /coded_by="XM_054379331.1:1..699"
                     /db_xref="GeneID:100288332"
                     /db_xref="HGNC:HGNC:41980"
ORIGIN      
        1 mfcclgyewl sggcktwhsa wvintladhr hrgtdfggsp wlliitvflr sykfaislct
       61 sylcvsflkt ifpsqnghdg stdvqqrarr sncrrqegik ivlediftlw rqvetkvrak
      121 irkmkvttkv nchdkingkr ktakehlrkl smkerehgek erqvseaeen gkldmkeiht
      181 ymemfqraqa lrrraedyyr ckitpsarkp lcnrctynlv lpgsekkyys ha
//
LOCUS       XP_047302659             546 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase SMG1-like [Homo sapiens].
ACCESSION   XP_047302659
VERSION     XP_047302659.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047446703.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..546
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..546
                     /product="serine/threonine-protein kinase SMG1-like"
                     /calculated_mol_wt=60933
     Region          1..511
                     /region_name="SMG1"
                     /note="Serine/threonine-protein kinase smg-1; pfam15785"
                     /db_xref="CDD:434936"
     CDS             1..546
                     /gene="LOC124907836"
                     /coded_by="XM_047446703.1:2248..3888"
                     /db_xref="GeneID:124907836"
ORIGIN      
        1 mtwalevavl mkksetyapl fclpsfhkfc kgllanilve dvniclqacs svpalssslp
       61 ddllqrcvdv chvqlvhcgt cirqafgkll ksipldvils nnnhteiqei slalrshmsk
      121 apsntfhpqd fsdvisfily gnshrtgkdn wlerlfyscq rldkhdqsti prnllktdai
      181 lwqwavweaa qftvlsklrt plgraqdtfq tiegiirsla ahtlnpdqdv sqwttadsde
      241 ghgnnqlrlv lllqyleyle klmynayegc analtsppkv irtffytnrq tcqdwltrir
      301 lsimrvglla gqpavtvrhg fdlltemktt slsqgnelev timmvvealc elhcpeaiqg
      361 iavwsssivg knllwinsva qqaegrfeka sveyqehlca migvhcciss fdksvltlan
      421 agcnsaspkh clngesrktv lskptdsspe vinylgnkac ecyisiadwa avqewqnaih
      481 dlkkstssts fnlkadfnyi kslssfesgk fvkcteqlel lpgeninlla ggskekidmk
      541 kllrnm
//
LOCUS       XP_054171782             354 aa            linear   PRI 20-MAR-2023
DEFINITION  endonuclease V isoform X5 [Homo sapiens].
ACCESSION   XP_054171782
VERSION     XP_054171782.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315807.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..354
                     /product="endonuclease V isoform X5"
                     /calculated_mol_wt=38337
     CDS             1..354
                     /gene="ENDOV"
                     /coded_by="XM_054315807.1:29..1093"
                     /db_xref="GeneID:284131"
                     /db_xref="HGNC:HGNC:26640"
                     /db_xref="MIM:619821"
ORIGIN      
        1 maleaaggpp eetlslwkre qarlkahvvd rdteawqrdp afsglqrvgg vdvsfvkgds
       61 vracaslvvl sfpelevvye esrmvsltap yvsgflafre vpfllelvqq lrekepglmp
      121 qvllvdgngv lhhrgfgvac hlgvltdlpc vgvakkllqv dglennalhk ekirllqtrg
      181 dsfpllgdsg tvlgmptgqp spslsqalrs hdrstrplyi svghrmslea avrltccccr
      241 fripepvrqv hlllcsrrsw estdgvsvgl lspwlragps wwphghrrcc apgcqvqall
      301 pgqagplqgk adicsrehir kslglpgppt prspkaqrpv acpkgdsges salc
//
LOCUS       XP_054173011             694 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA topoisomerase 3-alpha isoform X1 [Homo sapiens].
ACCESSION   XP_054173011
VERSION     XP_054173011.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317036.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..694
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..694
                     /product="DNA topoisomerase 3-alpha isoform X1"
                     /calculated_mol_wt=76421
     CDS             1..694
                     /gene="TOP3A"
                     /gene_synonym="MGRISCE2; PEOB5; TOP3; ZGRF7"
                     /coded_by="XM_054317036.1:631..2715"
                     /db_xref="GeneID:7156"
                     /db_xref="HGNC:HGNC:11992"
                     /db_xref="MIM:601243"
ORIGIN      
        1 matvvevrsk pkskwrpqal dtveleklas rklrinaket mriaeklytq gyisyprtet
       61 nifprdlnlt vlveqqtpdp rwgafaqsil erggptprng nksdqahppi hptkytnnlq
      121 gdeqrlyefi vrhflaccsq daqgqettve idiaqerfva hglmilarny ldvypydhws
      181 dkilpvyeqg shfqpstvem vdgetsppkl lteadlialm ekhgigtdat haehietika
      241 rmyvgltpdk rflpghlgmg lvegydsmgy emskpdlrae leadlklicd gkkdkfvvlr
      301 qqvqkykqvf ieavakakkl dealaqyfgn gtelaqqedi ypampepirk cpqcnkdmvl
      361 ktkknggfyl scmgfpecrs avwlpdsvle asrdssvcpv cqphpvyrlk lkfkrgslpp
      421 tmplefvcci ggcddtlrei ldlrfsggpp rasqpsgrlq anqslnrmdn sqhpqpadsr
      481 qtgsskalaq tlppptaage snsvtcncgq eavlltvrke gpnrgrqffk cnggscnffl
      541 wadspnpgag gppalayrpl gaslgcppgp gihlggfgnp gdgsgsgtsc lcsqpsvtrt
      601 vqkdgpnkgr qfhtcakpre qqcgffqwvd entapgtsga pswtgdrgrt lesearskrp
      661 rasssdmgst akkprkcslc hqpghtrpfc pqnr
//
LOCUS       XP_054174245             302 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box only protein 15 isoform X4 [Homo sapiens].
ACCESSION   XP_054174245
VERSION     XP_054174245.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318270.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..302
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..302
                     /product="F-box only protein 15 isoform X4"
                     /calculated_mol_wt=33439
     CDS             1..302
                     /gene="FBXO15"
                     /gene_synonym="FBX15"
                     /coded_by="XM_054318270.1:50..958"
                     /db_xref="GeneID:201456"
                     /db_xref="HGNC:HGNC:13617"
                     /db_xref="MIM:609093"
ORIGIN      
        1 matgrgrilq qhwlglqtlr gpsrgggaar grarafgcrk gpgvklsags aalrchaggg
       61 qhwessfscc sgfldgmpse illkifsyld avsllctgcv srrfyhland nfiwigiyst
      121 afsparsnwk fnsvekiams msflsvqdke agywkkeyit kqiasvkaal adilkpvnpy
      181 tglpvktkea lrifglgwai ilkekggkey imehvdlsin dtsvtviwyg kkwpclasls
      241 tldlcgmtpv ftdwyktptk hrwlctesil tmrlafclse qlsravffii dcfllkaglw
      301 ha
//
LOCUS       XP_054174412             951 aa            linear   PRI 20-MAR-2023
DEFINITION  GPI ethanolamine phosphate transferase 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054174412
VERSION     XP_054174412.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318437.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 39% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..951
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..951
                     /product="GPI ethanolamine phosphate transferase 1 isoform
                     X2"
                     /calculated_mol_wt=107960
     CDS             1..951
                     /gene="PIGN"
                     /gene_synonym="MCAHS; MCAHS1; MCD4; MDC4; PIG-N"
                     /coded_by="XM_054318437.1:313..3168"
                     /db_xref="GeneID:23556"
                     /db_xref="HGNC:HGNC:8967"
                     /db_xref="MIM:606097"
ORIGIN      
        1 mllfftlgll ihfvffasif diyftsplvh gmtpqftplp pparrlvlfv adglradaly
       61 eldengnsra pfirniimhe gswgishtrv ptesrpghva liagfyedvs avakgwkenp
      121 vefdslfnes kytwswgspd ilpmfakgas gdhvytysyd akredfgaqd atkldtwvfd
      181 nvkdffhhar nnqslfskin eekivfflhl lgidtnghah rpssrdykdn ikkvddgvke
      241 ivsmfnhfyg ndgkttfift sdhgmtdwgs hgaghpsetl tplvtwgagi kypqrvsaqq
      301 fddaflkewr lenwkrldvn qadiaplmts ligvpfplns vgilpvdyln ntdlfkaesm
      361 ftnavqileq fkvkmtqkke vtlpflftpf kllsdskqfn ilrkarsyik hrkfdevvsl
      421 ckelihlalk glsyyhtydr fflgvnvvig fvgwisyasl liikshsnli kgvskevkkp
      481 shllpcsfva igilvaffll iqacpwtyyv ygllplpiwy avlrefqviq dlvvsvltyp
      541 lshfvgylla ftlgievlvl sffyrymlta gltafaawpf ltrlwtrakm tslswtffsl
      601 llavfplmpv vgrkpdislv mgagllvlll slcvvtslmk rkdsfikeel lvhllqvlst
      661 vlsmyvvyst qssllrkqgl plmnqiiswa tlasslvvpl lsspvlfqrl fsillslmst
      721 ylllstgyea lfplvlsclm fvwinieqet lqqsgvcckq kltsiqfsyn tditqfrqly
      781 lddirraffl vfflvtaffg tgniasinsf dlasvycflt vfspfmmgal mmwkilipfv
      841 lvmcafeavq lttqlssksl flivlvisdi malhffflvk dygswldigt rlwmlsdpgl
      901 dlnllhaira cishyvivms mtiflvflng laqllttkkl rlcgkpkshf m
//
LOCUS       XP_054175195             230 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 68 isoform X4 [Homo sapiens].
ACCESSION   XP_054175195
VERSION     XP_054175195.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319220.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..230
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..230
                     /product="coiled-coil domain-containing protein 68 isoform
                     X4"
                     /calculated_mol_wt=26618
     CDS             1..230
                     /gene="CCDC68"
                     /gene_synonym="SE57-1"
                     /coded_by="XM_054319220.1:229..921"
                     /db_xref="GeneID:80323"
                     /db_xref="HGNC:HGNC:24350"
                     /db_xref="MIM:616909"
ORIGIN      
        1 mttvtvttei pprdkmedns alyestsahi ieeteyvkki rttlqkirtq mfkdeirhds
       61 tnhkldakhc gnlqqgsdse mdpsccsldl lmkkikgkdl qllemnkene vlkiklqasr
      121 eagaaalrnv aqrlfenyqt qseevrkkqe dskqllqvnk lekeqklkqh venlnqvaek
      181 leekhsqite lenlvqrmek ekrtllerkl slenkllqlk ssatygkrnl
//
LOCUS       XP_054177059             770 aa            linear   PRI 20-MAR-2023
DEFINITION  CCR4-NOT transcription complex subunit 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054177059
VERSION     XP_054177059.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321084.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..770
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..770
                     /product="CCR4-NOT transcription complex subunit 3 isoform
                     X2"
                     /calculated_mol_wt=83555
     CDS             1..770
                     /gene="CNOT3"
                     /gene_synonym="IDDSADF; LENG2; NOT3; NOT3H"
                     /coded_by="XM_054321084.1:286..2598"
                     /db_xref="GeneID:4849"
                     /db_xref="HGNC:HGNC:7879"
                     /db_xref="MIM:604910"
ORIGIN      
        1 madkrklqge idrclkkvse gveqfediwq klhnaananq kekyeadlkk eikklqrlrd
       61 qiktwvasne ikdkrqlidn rklietqmer fkvveretkt kayskeglgl aqkvdpaqke
      121 keevgqwltn tidtlnmqvd qfesevesls vqtrkkkgdk dkqdrieglk rhiekhryhv
      181 rmletilrml dndsilvdai rkikddveyy vdssqdpdfe eneflyddld ledipqalva
      241 tsppshshme deifnqssst ptsttssspi ppspanctte nseddkkrgr stdsevsqsp
      301 akngskpvhs nqhpqspavp ptypsgpppa asalsttpgn ngvpapaapp salgpkaspa
      361 pshnsgtpap yaqavappap sgpsttqprp psvqpsgggg ggsggggsss ssnssaggga
      421 gkqngatsys svvadspaev alsssggnna ssqalgppsg phnpppstsk epsaaaptga
      481 ggvapgsgnn sggpsllvpl pvnppssptp sfsdakaaga llngppqfst apeikapepl
      541 sslksmaera aissgiedpv ptlhlterdi ilsstsappa saqpplqlse vniplslgvc
      601 plgpvpltke qlyqqameea awhhmphpsd serirqylpr npcptppyhh qmppphsdtv
      661 efyqrlstet lffifyyleg tkaqylaaka lkkqswrfht kymmwfqrhe epktitdefe
      721 qipdhllvhs ltafspgqgt yiyfdyekwg qrkkegftfe yryledrdlq
//
LOCUS       XP_054197987             612 aa            linear   PRI 20-MAR-2023
DEFINITION  lutropin-choriogonadotropic hormone receptor isoform X3 [Homo
            sapiens].
ACCESSION   XP_054197987
VERSION     XP_054197987.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342012.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..612
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..612
                     /product="lutropin-choriogonadotropic hormone receptor
                     isoform X3"
                     /calculated_mol_wt=68768
     CDS             1..612
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /coded_by="XM_054342012.1:54..1892"
                     /db_xref="GeneID:3973"
                     /db_xref="HGNC:HGNC:6585"
                     /db_xref="MIM:152790"
ORIGIN      
        1 mkqrfsalql lklllllqpp lpralrealc pepcncvpdg alrcpgptag ltrlslaylp
       61 vkvipsqafr glnevikili qntknlryie pgafinlprl kylsicntgi rkfpdvtkvf
      121 ssesnfilei cdnlhittip gnafqgmnne svtlklygng feevqshafn gttltslelk
      181 envhlekmhn gafrgatgpk tlqnfshsis enfskqcest vrkvnnktly ssmlaesels
      241 gwdyeygfcl pktprcapep dafnpcedim gydflrvliw linilaimgn mtvlfvllts
      301 rykltvprfl mcnlsfadfc mglylllias vdsqtkgqyy nhaidwqtgs gcstagfftv
      361 faselsvytl tvitlerwht ityaihldqk lrlrhailim lggwlfssli amlplvgvsn
      421 ymkvsicfpm dvettlsqvy iltililnvv affiicacyi kiyfavrnpe lmatnkdtki
      481 akkmailift dftcmapisf faisaafkvp litvtnskvl lvlfypinsc anpflyaift
      541 ktfqrdffll lskfgcckrr aelyrrkdfs aytsnckngf tgsnkpsqst lklstlhcqg
      601 talldktryt ec
//
LOCUS       XP_054199222             756 aa            linear   PRI 20-MAR-2023
DEFINITION  NLR family CARD domain-containing protein 4 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054199222
VERSION     XP_054199222.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343247.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..756
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..756
                     /product="NLR family CARD domain-containing protein 4
                     isoform X1"
                     /calculated_mol_wt=85964
     CDS             1..756
                     /gene="NLRC4"
                     /gene_synonym="AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB;
                     CLANC; CLAND; CLR2.1; FCAS4; IPAF"
                     /coded_by="XM_054343247.1:268..2538"
                     /db_xref="GeneID:58484"
                     /db_xref="HGNC:HGNC:16412"
                     /db_xref="MIM:606831"
ORIGIN      
        1 mnfikdnsra liqrmgmtvi kqitddlfvw nvlnreevni iccekveqda argiihmilk
       61 kgsescnlfl kslkewnypl fqdlngqslf hqtsegdldd laqdlkdlyh tpsflnfypl
      121 gedidiifnl kstftepvlw rkdqhhhrve qltlngllqa lqspciiege sgkgkstllq
      181 riamlwgsgk ckaltkfkfv fflrlsraqg glfetlcdql ldipgtirkq tfmamllklr
      241 qrvlflldgy nefkpqncpe iealikenhr fknmvivttt teclrhirqf galtaevgdm
      301 tedsaqalir evlikelaeg lllqiqksrc lrnlmktplf vvitcaiqmg esefhshtqt
      361 tlfhtfydll iqknkhkhkg vaasdfirsl dhcgdlaleg vfshkfdfel qdvssvnedv
      421 llttgllcky taqrfkpkyk ffhksfqeyt agrrlssllt shepeevtkg ngylqkmvsi
      481 sditstyssl lrytcgssve atravmkhla avyqhgcllg lsiakrplwr qeslqsvknt
      541 teqeilkain insfvecgih lyqestsksa lsqefeaffq gkslyinsgn ipdylfdffe
      601 hlpncasald fikldfygga maswekaaed tggihmeeap etyipsravs lffnwkqefr
      661 tlevtlrdfs klnkqdiryl gkifssatsl rlqikrcagv agslslvlst ckniyslmve
      721 aspltieder hitsvtnlkt lsihdlqnqr lpgivv
//
LOCUS       XP_054179305             378 aa            linear   PRI 20-MAR-2023
DEFINITION  lysophosphatidylserine lipase ABHD12 isoform X11 [Homo sapiens].
ACCESSION   XP_054179305
VERSION     XP_054179305.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323330.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..378
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..378
                     /product="lysophosphatidylserine lipase ABHD12 isoform
                     X11"
                     /calculated_mol_wt=41094
     CDS             1..378
                     /gene="ABHD12"
                     /gene_synonym="ABHD12A; BEM46L2; C20orf22; dJ965G21.2;
                     hABHD12; PHARC"
                     /coded_by="XM_054323330.1:288..1424"
                     /db_xref="GeneID:26090"
                     /db_xref="HGNC:HGNC:15868"
                     /db_xref="MIM:613599"
ORIGIN      
        1 mwyedalass hpiilylhgn agtrggdhrv elykvlsslg yhvvtfdyrg wgdsvgtpse
       61 rgmtydalhv fdwikarsgd npvyiwghsl gtgvatnlvr rlceretppd alilespftn
      121 ireeakshpf sviyryfpgf dwffldpits sgikfanden vkhiscplli lhaeddpvvp
      181 fqlgrkvgpg lclwcswhla hsasvggpgw ewaggkaapa ccitgcapat sgsgghlilp
      241 asppgcfgrt wevwckgwgr gplmlsprtm knkqivpsph tgvirvrclc yqspgqpgns
      301 agrahqlwae gkepldedlp splqgsqskl iekllacfla fgialipepd havcgasvfa
      361 faefaltvsk ldwicgse
//
LOCUS       XP_054180228             367 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein 39 isoform X5 [Homo sapiens].
ACCESSION   XP_054180228
VERSION     XP_054180228.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324253.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..367
                     /product="RNA-binding protein 39 isoform X5"
                     /calculated_mol_wt=39687
     CDS             1..367
                     /gene="RBM39"
                     /gene_synonym="CAPER; CAPERalpha; FSAP59; HCC1; RNPC2"
                     /coded_by="XM_054324253.1:393..1496"
                     /db_xref="GeneID:9584"
                     /db_xref="HGNC:HGNC:15923"
                     /db_xref="MIM:604739"
ORIGIN      
        1 mqlaarirpr dleeffstvg kvrdvrmisd rnsrrskgia yvefvdvssv plaigltgqr
       61 vlgvpiivqa sqaeknraaa mannlqkgsa gpmrlyvgsl hfnitedmlr gifepfgrie
      121 siqlmmdset grskgygfit fsdsecakka leqlngfela grpmkvghvt ertdassass
      181 fldsdelert gidlgttgrl qlmarlaegt glqippaaqq alqmsgslaf gavadlqtrl
      241 sqqteasala aaasvqplat qcfqlsnmfn pqteeevgwd teikddviee cnkhggvihi
      301 yvdknsaqgn vyvkcpsiaa aiaavnalhg rwfagkmita ayvplptyhn lfpdsmtatq
      361 llvpsrr
//
LOCUS       XP_054180439             287 aa            linear   PRI 20-MAR-2023
DEFINITION  protein arginine N-methyltransferase 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054180439
VERSION     XP_054180439.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324464.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..287
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..287
                     /product="protein arginine N-methyltransferase 2 isoform
                     X3"
                     /calculated_mol_wt=32022
     CDS             1..287
                     /gene="PRMT2"
                     /gene_synonym="HRMT1L1"
                     /coded_by="XM_054324464.1:256..1119"
                     /db_xref="GeneID:3275"
                     /db_xref="HGNC:HGNC:5186"
                     /db_xref="MIM:601961"
ORIGIN      
        1 matsgdcprs esqgeepaec seagllqegv qpeefvaiad yaatdetqls flrgekilil
       61 rqttadwwwg eragccgyip anhvgkhvde ydpedtwqde eyfgsygtlk lhlemladqp
      121 rttkyhsvil qnkesltdkv ildvgcgtgi islfcahyar pravyaveas emaqhtgqlv
      181 lqngfadiit vyqqkvedvv lpekvdvlvs ewmgtcllll qdlacspeat prfprsrlht
      241 qqsptsqwhc rcrgclldls grfarslris iahlvelkdc qtqsycc
//
LOCUS       XP_054201356             634 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase Nek10 isoform X14 [Homo sapiens].
ACCESSION   XP_054201356
VERSION     XP_054201356.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345381.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..634
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..634
                     /product="serine/threonine-protein kinase Nek10 isoform
                     X14"
                     /calculated_mol_wt=72541
     CDS             1..634
                     /gene="NEK10"
                     /gene_synonym="CILD44"
                     /coded_by="XM_054345381.1:197..2101"
                     /db_xref="GeneID:152110"
                     /db_xref="HGNC:HGNC:18592"
                     /db_xref="MIM:618726"
ORIGIN      
        1 mpdqdkkvkt tekstdkqqe itirdysdlk rlrcllnvqs skqqlpainf dsaqnsmtks
       61 epairagghr argqwheste avelenfsin yknernfskh pqrklfqeif talvknrlis
      121 rewvnrapsi hflrvliclr llmrdpcyqe ilhslggien laqymeivan eylgygeeqh
      181 tvdklvnmty ifqklaavkd qrewvttsga hktlvnllga rdtnvllgsl lalaslaerl
      241 taellrllca epqvkeqvkl yegipvllsl lhsdhlkllw sivwilvqvc edpetsveir
      301 iwggikqllh ilqgdrnfvs dhssigslss anaagriqql hlsedlspre iqentfslqa
      361 accaaltelv lndtnahqvv qengvytiak lilpnkqkna aksnllqcya fralrflfsm
      421 ernrplfkrl fptdlfeifi dighyvrdis ayeelvskln llvedelkqi aeniesinqn
      481 kaplkyigny aildhlgsga fgcvyklyhp nivryyktfl endrlyivme liegaplgeh
      541 fsslkekhhh fteerlwkif iqlclalryl hkekrivhrd ltpnnimlgd kdkvtvtdfg
      601 lakqkqensk ltsvvgtily scgfmrrcke tvag
//
LOCUS       XP_054202528             304 aa            linear   PRI 20-MAR-2023
DEFINITION  muscleblind-like protein 1 isoform X10 [Homo sapiens].
ACCESSION   XP_054202528
VERSION     XP_054202528.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346553.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..304
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..304
                     /product="muscleblind-like protein 1 isoform X10"
                     /calculated_mol_wt=32615
     CDS             1..304
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /coded_by="XM_054346553.1:279..1193"
                     /db_xref="GeneID:4154"
                     /db_xref="HGNC:HGNC:6923"
                     /db_xref="MIM:606516"
ORIGIN      
        1 mlgrcsrenc kylhppphlk tqleingrnn liqqknmaml aqqmqlanam mpgaplqpvp
       61 mfsvapslat nasaaafnpy lgpvspslvp aeilptapml vtgnpgvpvp aaaaaaaqkl
      121 mrtdrlevcr eyqrgncnrg endcrfahpa dstmidtndn tvtvcmdyik grcsrekcky
      181 fhppahlqak ikaaqyqvnq aaaaqaaata aamtqsavks lkrpleatfd lgipqavlpp
      241 lpkrpalekt ngatavfntg ifqyqqalan mqlqqhtafl ppgsilcmtp atsvdthnic
      301 rtsd
//
LOCUS       XP_054202794             672 aa            linear   PRI 20-MAR-2023
DEFINITION  PEX5-related protein isoform X2 [Homo sapiens].
ACCESSION   XP_054202794
VERSION     XP_054202794.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346819.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..672
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..672
                     /product="PEX5-related protein isoform X2"
                     /calculated_mol_wt=74702
     CDS             1..672
                     /gene="PEX5L"
                     /gene_synonym="PEX5R; PEX5RP; PXR2; PXR2B; TRIP8b"
                     /coded_by="XM_054346819.1:278..2296"
                     /db_xref="GeneID:51555"
                     /db_xref="HGNC:HGNC:30024"
                     /db_xref="MIM:611058"
ORIGIN      
        1 msdsemdgrt hipsllnall srnrvmqmsy lkskeqgygk lssdedleii vdqkqvvgvt
       61 lkkkwhclqk sdltlalgkg sraadkavam vmkeiprees aeekplltmt sqlvneqqes
      121 rpllspsidd flcetkseai arpvtsntav lttgldlldl sepvsqtqtk akksepsskt
      181 sslkkkadgs dlistdaeqr gqplrvpets sldldiqtql ekwddvkfhg drntkghpma
      241 erkssssrtg skellwsseh rsqpelsggk salnsesase lelvaptqar ltkehrwgsa
      301 llsrnhslee eferakaave sdtefwdkmq aeweemarrn wisenqeaqn qvtisasekg
      361 yyfhtenpfk dwpgafeegl krlkegdlpv tilfmeaail qdpgdaeawq flgitqaene
      421 neqaaivalq rclelqpnnl kalmalavsy tntghqqdac dalknwikqn pkykylvksk
      481 kgspgltrrm skspvdssvl egvkelylea ahqngdmidp dlqtglgvlf hlsgefnrai
      541 dafnaaltvr pedyslwnrl gatlangdrs eeaveaytra leiqpgfirs rynlgiscin
      601 lgayreavsn fltalslqrk srnqqqvphp aisgniwaal rialslmdqp elfqaanlgd
      661 ldvllrafnl dp
//
LOCUS       XP_054203247             616 aa            linear   PRI 20-MAR-2023
DEFINITION  methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
            isoform X4 [Homo sapiens].
ACCESSION   XP_054203247
VERSION     XP_054203247.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347272.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..616
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..616
                     /product="methylcrotonoyl-CoA carboxylase subunit alpha,
                     mitochondrial isoform X4"
                     /calculated_mol_wt=68161
     CDS             1..616
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /coded_by="XM_054347272.1:77..1927"
                     /db_xref="GeneID:56922"
                     /db_xref="HGNC:HGNC:6936"
                     /db_xref="MIM:609010"
ORIGIN      
        1 mekiiqvakt saaqaihpgc gflsenmefa elckqegiif igpppsaird mgikstsksi
       61 maaagvpvve gyhgedqsdq clkeharrig ypvmikavrg gggkgmrivr seqefqeqle
      121 sarreakksf nddamliekf vdtprhvevq vfgdhhgnav ylferdcsvq rrhqkiieea
      181 papgiksevr kklgeaavra akavnyvgag tvefimdskh nfcfmemntr lqvehpvtem
      241 itgtdlvewq lriaagekip lsqeeitlqg hafeariyae dpsnnfmpva gplvhlstpr
      301 adpstrietg vrqgdevsvh ydpmiaklvv waadrqaalt klryslrqyn ivglptnidf
      361 llnlsghpef eagnvhtdfi pqhhkqllls rkaaakeslc qaalglilke kamtdtftlq
      421 ahdqfspfss ssgrrlnisy trnmtlkdgk nnvaiavtyn hdgsysmqie dktfqvlgnl
      481 ysegdctylk csvngvaska kliilentiy lfskegsiei dipvpkylss vssqetqggp
      541 lapmtgtiek vfvkagdkvk agdslmvmia mkmehtiksp kdgtvkkvfy regaqanrht
      601 plvefeeees dkrese
//
LOCUS       XP_054204223             344 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-1,4-galactosyltransferase 4 isoform X1 [Homo sapiens].
ACCESSION   XP_054204223
VERSION     XP_054204223.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348248.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..344
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..344
                     /product="beta-1,4-galactosyltransferase 4 isoform X1"
                     /calculated_mol_wt=39910
     CDS             1..344
                     /gene="B4GALT4"
                     /gene_synonym="B4Gal-T4; beta4Gal-T4"
                     /coded_by="XM_054348248.1:549..1583"
                     /db_xref="GeneID:8702"
                     /db_xref="HGNC:HGNC:927"
                     /db_xref="MIM:604015"
ORIGIN      
        1 mgfnltfhls ykfrlllllt lcltvvgwat snyfvgaiqe ipkakefman fhktlilgkg
       61 ktltneastk kveldncpsv spylrgqskl ifkpdltlee vqaenpkvsr gryrpqecka
      121 lqrvailvph rnrekhlmyl lehlhpflqr qqldygiyvi hqaegkkfnr akllnvgyle
      181 alkeenwdcf ifhdvdlvpe ndfnlykcee hpkhlvvgrn stgyrlrysg yfggvtalsr
      241 eqffkvngfs nnywgwgged ddlrlrvelq rmkisrplpe vgkytmvfht rdkgnevnae
      301 rmkllhqvsr vwrtdglssc syklvsvehn plyinitvdf wfga
//
LOCUS       XP_054204741             838 aa            linear   PRI 20-MAR-2023
DEFINITION  transforming acidic coiled-coil-containing protein 3 isoform X2
            [Homo sapiens].
ACCESSION   XP_054204741
VERSION     XP_054204741.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348766.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..838
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..838
                     /product="transforming acidic coiled-coil-containing
                     protein 3 isoform X2"
                     /calculated_mol_wt=90229
     CDS             1..838
                     /gene="TACC3"
                     /gene_synonym="ERIC-1; ERIC1; maskin; Tacc4"
                     /coded_by="XM_054348766.1:220..2736"
                     /db_xref="GeneID:10460"
                     /db_xref="HGNC:HGNC:11524"
                     /db_xref="MIM:605303"
ORIGIN      
        1 mslqvlndkn vsnekntenc dflfsppevt grssvlrvsq kenvppknla kamkvtfqtp
       61 lrdpqthril spsmasklea pftqddtlgl enshpvwtqk enqqlikevd aktthgilqk
      121 pveadtdllg daspafgsgs ssesgpgala dldcssssqs pgssenqmvs pgkvsgspeq
      181 aveenlssys ldrrvtpase tledpcrtes qhkaetphga eeeckaetph gaeeecrhgg
      241 vcapaavats ppgaipkeac ggaplqglpg ealgcpagvg tpvpadgtqt ltcahtsape
      301 staptnhlva gramtlspqe evaagqmass srsgpvklef dvsdgatskr appprrlger
      361 sglkpplrka avrqqkapqe veeddgrsga gedppmpasr gsyhldwdkm ddpnfipfgg
      421 dtksgcseaq ppespetrlg qpaaeqlhag pateepgpcl sqqlhsasae dtpvvqlaae
      481 tptaeskera lnsastslpt scpgsepvpt hqqgqpalel keesfrdpae vlgtgaevdy
      541 leqfgtssfk esalrkqsly lkfdpllrds pgrpvpvate tssmhganet psgrpreakl
      601 vefdflgald ipvpgpppgv papggpplst gpivdllqys qkdldavvka tqeenrelrs
      661 rceelhgknl elgkimdrfe evvyqameev qkqkelskae iqkvlkekdq lttdlnsmek
      721 sfsdlfkrfe kqkeviegyr kneeslkkcv edylaritqe gqryqalkah aeeklqlane
      781 eiaqvrskaq aealalqasl rkeqmriqsl ektveqktke neeltricdd liskmeki
//
LOCUS       XP_054207654             454 aa            linear   PRI 20-MAR-2023
DEFINITION  casein kinase I isoform X9 [Homo sapiens].
ACCESSION   XP_054207654
VERSION     XP_054207654.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351679.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..454
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..454
                     /product="casein kinase I isoform X9"
                     /calculated_mol_wt=52149
     CDS             1..454
                     /gene="CSNK1G3"
                     /gene_synonym="CKI-gamma 3; CSNK1G3L"
                     /coded_by="XM_054351679.1:642..2006"
                     /db_xref="GeneID:1456"
                     /db_xref="HGNC:HGNC:2456"
                     /db_xref="MIM:604253"
ORIGIN      
        1 menkkkdkdk sddrmarpsg rsghntrgtg ssssgvlmvg pnfrvgkkig cgnfgelrlg
       61 knlytneyva iklepmksra pqlhleyrfy kqlgsgdgip qvyyfgpcgk ynamvlellg
      121 psledlfdlc drtfslktvl miaiqlisrm eyvhsknliy rdvkpenfli grpgnktqqv
      181 ihiidfglak eyidpetkkh ipyrehkslt gtarymsint hlgkeqsrrd dlealghmfm
      241 yflrgslpwq glkadtlker yqkigdtkra tpievlcenf peematylry vrrldffekp
      301 dydylrklft dlfdrkgymf dyeydwigkq lptpvgavqq dpalssnrea hqhrdkmqqs
      361 knqsadhraa wdsqqanphh lrahlaadrh ggsvvsstng elntddptag rsnapitapt
      421 evevmdetnc qkvlnmwccc ffkrrkrkti qrhk
//
LOCUS       XP_054209967             224 aa            linear   PRI 20-MAR-2023
DEFINITION  uronyl 2-sulfotransferase isoform X3 [Homo sapiens].
ACCESSION   XP_054209967
VERSION     XP_054209967.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353992.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..224
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..224
                     /product="uronyl 2-sulfotransferase isoform X3"
                     /calculated_mol_wt=25068
     CDS             1..224
                     /gene="UST"
                     /gene_synonym="2OST"
                     /coded_by="XM_054353992.1:402..1076"
                     /db_xref="GeneID:10090"
                     /db_xref="HGNC:HGNC:17223"
                     /db_xref="MIM:610752"
ORIGIN      
        1 mkkkqqhpgg gadpwphgap mggappglgs wkrrvpllpf lrfslrdygf cmatllvfcl
       61 gsllyqlsgg pprflldlrq ylgnstyldd hgpppskvlp fpsqvvynrv gkcgsrtvvl
      121 llrilsekhg fnlvtsdihn ktrltkneqm eliknistae qpylftrhvh flnfsrapdp
      181 elfelqyrgs avspskavrt yqstetfteg qlcpcgfcss hwky
//
LOCUS       XP_054210403             186 aa            linear   PRI 20-MAR-2023
DEFINITION  allograft inflammatory factor 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054210403
VERSION     XP_054210403.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354428.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..186
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..186
                     /product="allograft inflammatory factor 1 isoform X1"
                     /calculated_mol_wt=20734
     CDS             1..186
                     /gene="AIF1"
                     /gene_synonym="AIF-1; IBA1; IRT-1; IRT1"
                     /coded_by="XM_054354428.1:97..657"
                     /db_xref="GeneID:199"
                     /db_xref="HGNC:HGNC:352"
                     /db_xref="MIM:601833"
ORIGIN      
        1 msqtrdlqgg kafgllkaqq eerldeinkq flddpkyssd edlpsklegf kekymefdln
       61 gngdigekrv icggrvvcrp kktevsptcs iphdlgggpp ttvggrrmgm rkwerrervs
      121 ppsphphplp pdimslkrml eklgvpkthl elkkligevs sgsgetfsyp dflrmmlgkr
      181 sailkm
//
LOCUS       XP_054211775             492 aa            linear   PRI 20-MAR-2023
DEFINITION  prolyl endopeptidase isoform X1 [Homo sapiens].
ACCESSION   XP_054211775
VERSION     XP_054211775.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355800.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..492
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..492
                     /product="prolyl endopeptidase isoform X1"
                     /calculated_mol_wt=56746
     CDS             1..492
                     /gene="PREP"
                     /gene_synonym="PE; PEP"
                     /coded_by="XM_054355800.1:192..1670"
                     /db_xref="GeneID:5550"
                     /db_xref="HGNC:HGNC:9358"
                     /db_xref="MIM:600400"
ORIGIN      
        1 mlslqypdvy rdetavqdyh ghkicdpyaw ledpdseqtk afveaqnkit vpfleqcpir
       61 glykermtel ydypkyschf kkgkryfyfy ntglqnqrvl yvqdslegea rvfldpnils
      121 ddgtvalrgy afsedgeyfa yglsasgsdw vtikfmkvdg akelpdvler vkfscmawth
      181 dgkgmfynsy pqqdgksdgt etstnlhqkl yyhvlgtdqs edilcaefpd epkwmggael
      241 sddgryvlls iregcdpvnr lwycdlqqes sgiagilkwv klidnfegey dyvtnegtvf
      301 tfktnrqspn yrvinidfrd peeskwkvlv pehekdvlew iacvrsnflv lcylhdvkni
      361 lqlhdlttga llktfpldvg sivgysgqkk dteifyqfts flspgiiyhc dltkeelepr
      421 vfrevtvkgi dasdyqtvqi prflkteglk qpcveqvcyh hfpnsmcsvr vchiliiltm
      481 fqafsllhhs el
//
LOCUS       XP_054214162              82 aa            linear   PRI 20-MAR-2023
DEFINITION  ragulator complex protein LAMTOR4 isoform X2 [Homo sapiens].
ACCESSION   XP_054214162
VERSION     XP_054214162.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358187.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..82
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..82
                     /product="ragulator complex protein LAMTOR4 isoform X2"
                     /calculated_mol_wt=8747
     CDS             1..82
                     /gene="LAMTOR4"
                     /gene_synonym="C7orf59"
                     /coded_by="XM_054358187.1:388..636"
                     /db_xref="GeneID:389541"
                     /db_xref="HGNC:HGNC:33772"
                     /db_xref="MIM:618834"
ORIGIN      
        1 mtsaltqgle ripdqlgylv lsegavlass gdlendeqaa saiselvsta cgfrlhrgmn
       61 vpfkrlsgvs llqwslenth cw
//
LOCUS       XP_054219761             522 aa            linear   PRI 20-MAR-2023
DEFINITION  DDB1- and CUL4-associated factor 10 isoform X1 [Homo sapiens].
ACCESSION   XP_054219761
VERSION     XP_054219761.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363786.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..522
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..522
                     /product="DDB1- and CUL4-associated factor 10 isoform X1"
                     /calculated_mol_wt=56552
     CDS             1..522
                     /gene="DCAF10"
                     /gene_synonym="WDR32"
                     /coded_by="XM_054363786.1:71..1639"
                     /db_xref="GeneID:79269"
                     /db_xref="HGNC:HGNC:23686"
ORIGIN      
        1 mfpfgphspg gdgsagagae eptphegqaa atgppsplhp gadathpppp arsprrpgap
       61 slspaprsge lglpgapess tasapgepsp psppcrrpgp dcraksrgrh glgaglggpg
      121 arlfgwlker slgrglfvdp ardnfrtmts lygsihpads vylstrthga vfnleyspdg
      181 svltvaceqt evllfdpiss khiktlseah edcvnnirfl dnrlfatcsd dttialwdlr
      241 klntkvctlh ghtswvknie ydtntrllvt sgfdgnviiw dtnrytedgc phkkffhtrf
      301 lmrmrltpdc skmlistssg yllilhdldl tkslevgsyp ilrarrttss sgvsprnsle
      361 vvtpevlges dhgncitslq lhpkgwatll rcssnsddee ctcvyefqeg apvrpvsprc
      421 slrlthyiee anvgrgyike lcfspdgrmi ssphgygirl lgfdkqcsel vdclpkeasp
      481 lrvirslysh ndvvlttkfs pthcqiasgc lsgrvslyqp kf
//
LOCUS       XP_054182447             690 aa            linear   PRI 20-MAR-2023
DEFINITION  highly divergent homeobox isoform X1 [Homo sapiens].
ACCESSION   XP_054182447
VERSION     XP_054182447.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326472.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..690
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..690
                     /product="highly divergent homeobox isoform X1"
                     /calculated_mol_wt=77075
     CDS             1..690
                     /gene="HDX"
                     /gene_synonym="CXorf43; D030011N01Rik"
                     /coded_by="XM_054326472.1:196..2268"
                     /db_xref="GeneID:139324"
                     /db_xref="HGNC:HGNC:26411"
                     /db_xref="MIM:300994"
ORIGIN      
        1 mnlrsvftve qqrilqryye ngmtnqsknc fqlilqcaqe tkldfsvvrt wvgnkrrkms
       61 sknsesgtat tgtslsapdi tvrnvvniar pssqqsswts anndvivtgi yspassssrq
      121 gtnkhtdtqi teahkipiqk tatkndtefq lhipvqrqva hcknaslllg ektiilsrqt
      181 svlnagnsvf nhakknygns svqasemtvp qkpsvchrpc kiepvgiqrs ykpehtgpal
      241 hnlcgqkpti rdpycrtqnl eirevfslav sdypqrilgg napqkpssae gnclsiamet
      301 gdaedeyare eelasmraqi psysrfyesg sslraenqst tlpgpgrnmp nsqmvnirdm
      361 sdnvlyqnrn yhltprtslh tasstmysnt nplrsnfsph fassnqlrls qnqnnyqisg
      421 nltvpwitgc srkralqdrt qfsdrdlatl kkywdngmts lgsvcrekie avatelnvdc
      481 eivrtwignr rrkyrlmgie vppprggpad fseqpesgsl saltpgeeag pevgedndrn
      541 devsiclseg ssqeepnevv pndarahkee dhhavttdnv kieiiddees dmisnseveq
      601 vnsfldykne evkfienele iqkqkyfklq tfvrslilam kaddkeqqqa llsdlppele
      661 emdfnhasle pddtsfsvss lseknvsesl
//
LOCUS       XP_054184283             459 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding motif protein, Y chromosome, family 1 member F/J
            isoform X4 [Homo sapiens].
ACCESSION   XP_054184283
VERSION     XP_054184283.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328308.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060948) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..459
                     /organism="Homo sapiens"
                     /isolate="NA24385"
                     /bio_material="CORIELL:NA24385"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /sex="male"
                     /tissue_type="B-Lymphocyte"
     Protein         1..459
                     /product="RNA-binding motif protein, Y chromosome, family
                     1 member F/J isoform X4"
                     /calculated_mol_wt=51106
     CDS             1..459
                     /gene="RBMY1J"
                     /coded_by="XM_054328308.1:94..1473"
                     /db_xref="GeneID:378951"
                     /db_xref="HGNC:HGNC:23917"
ORIGIN      
        1 mveadhpgkl figglnretn ekmlkavfgk hgpisevlli kdrtsksrgf afitfenpad
       61 aknaakdmng tslhgkaikv eqakkpsfqs ggrrrppass rnrspsgslr sargssggtr
      121 gwlpsheghl ddggytpdlk msysrglipv krgpssrsgg pppkksapsa varsnswmgs
      181 qgpmsqrren ygvpprrati sswrndrmst rhdgyatndg nhpscqetrd yappsrgyay
      241 rdnghsnrde hssrgyrnhr ssretrdyap psrghayrdy ghsrrdesys rgyrnhrssr
      301 etreyappsr ghgyrdyghs rrhesysrgy syhdgygeal grdhsehlsg ssyrdalqry
      361 gtshgappar gprmsyggst chaysntrdr ygrswesyss cgdfhycdre hvcrkdqrnp
      421 pslgrvlpdp reaygsssyv asivdggesr sekgdssry
//
LOCUS       NP_003347                312 aa            linear   PRI 22-MAR-2023
DEFINITION  mitochondrial uncoupling protein 3 isoform UCP3L [Homo sapiens].
ACCESSION   NP_003347
VERSION     NP_003347.1
DBSOURCE    REFSEQ: accession NM_003356.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 312)
  AUTHORS   Huesca-Gomez C, Torres-Paz YE, Fuentevilla-Alvarez G,
            Gonzalez-Moyotl NJ, Ramirez-Marroquin ES, Vasquez-Jimenez X,
            Sainz-Escarrega V, Soto ME, Samano R and Gamboa R.
  TITLE     Expressions of mRNA and encoded proteins of mitochondrial
            uncoupling protein genes (UCP1, UCP2, and UCP3) in epicardial and
            mediastinal adipose tissue and associations with coronary artery
            disease
  JOURNAL   Arch Endocrinol Metab 67 (2), 214-223 (2023)
   PUBMED   36651711
  REMARK    GeneRIF: Expressions of mRNA and encoded proteins of mitochondrial
            uncoupling protein genes (UCP1, UCP2, and UCP3) in epicardial and
            mediastinal adipose tissue and associations with coronary artery
            disease.
REFERENCE   2  (residues 1 to 312)
  AUTHORS   Fortes JS, Pinto RM, de Souza RF, Godoy FR, da Cruz RS, de M E
            Silva D, Filho HPL, da Cruz AD and Minasi LB.
  TITLE     The influence of six polymorphisms of uncoupling protein 3 (UCP3)
            gene and childhood obesity: a case-control study
  JOURNAL   BMC Pediatr 23 (1), 87 (2023)
   PUBMED   36810017
  REMARK    GeneRIF: The influence of six polymorphisms of uncoupling protein 3
            (UCP3) gene and childhood obesity: a case-control study.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 312)
  AUTHORS   Codella R, Alves TC, Befroy DE, Choi CS, Luzi L, Rothman DL, Kibbey
            RG and Shulman GI.
  TITLE     Overexpression of UCP3 decreases mitochondrial efficiency in mouse
            skeletal muscle in vivo
  JOURNAL   FEBS Lett 597 (2), 309-319 (2023)
   PUBMED   36114012
REFERENCE   4  (residues 1 to 312)
  AUTHORS   Nikanorova AA, Barashkov NA, Pshennikova VG, Gotovtsev NN, Romanov
            GP, Solovyev AV, Kuzmina SS, Sazonov NN and Fedorova SA.
  TITLE     Relationships between Uncoupling Protein Genes UCP1, UCP2 and UCP3
            and Irisin Levels in Residents of the Coldest Region of Siberia
  JOURNAL   Genes (Basel) 13 (9), 1612 (2022)
   PUBMED   36140780
  REMARK    GeneRIF: Relationships between Uncoupling Protein Genes UCP1, UCP2
            and UCP3 and Irisin Levels in Residents of the Coldest Region of
            Siberia.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 312)
  AUTHORS   Toda-Oti KS, Stefano JT, Cavaleiro AM, Carrilho FJ, Correa-Gianella
            ML and Oliveira CPMS.
  TITLE     Association of UCP3 Polymorphisms with Nonalcoholic Steatohepatitis
            and Metabolic Syndrome in Nonalcoholic Fatty Liver Disease
            Brazilian Patients
  JOURNAL   Metab Syndr Relat Disord 20 (2), 114-123 (2022)
   PUBMED   35020496
  REMARK    GeneRIF: Association of UCP3 Polymorphisms with Nonalcoholic
            Steatohepatitis and Metabolic Syndrome in Nonalcoholic Fatty Liver
            Disease Brazilian Patients.
REFERENCE   6  (residues 1 to 312)
  AUTHORS   Boss O, Giacobino JP and Muzzin P.
  TITLE     Genomic structure of uncoupling protein-3 (UCP3) and its assignment
            to chromosome 11q13
  JOURNAL   Genomics 47 (3), 425-426 (1998)
   PUBMED   9480760
REFERENCE   7  (residues 1 to 312)
  AUTHORS   Solanes G, Vidal-Puig A, Grujic D, Flier JS and Lowell BB.
  TITLE     The human uncoupling protein-3 gene. Genomic structure, chromosomal
            localization, and genetic basis for short and long form transcripts
  JOURNAL   J Biol Chem 272 (41), 25433-25436 (1997)
   PUBMED   9325252
REFERENCE   8  (residues 1 to 312)
  AUTHORS   Gong DW, He Y, Karas M and Reitman M.
  TITLE     Uncoupling protein-3 is a mediator of thermogenesis regulated by
            thyroid hormone, beta3-adrenergic agonists, and leptin
  JOURNAL   J Biol Chem 272 (39), 24129-24132 (1997)
   PUBMED   9305858
REFERENCE   9  (residues 1 to 312)
  AUTHORS   Vidal-Puig A, Solanes G, Grujic D, Flier JS and Lowell BB.
  TITLE     UCP3: an uncoupling protein homologue expressed preferentially and
            abundantly in skeletal muscle and brown adipose tissue
  JOURNAL   Biochem Biophys Res Commun 235 (1), 79-82 (1997)
   PUBMED   9196039
REFERENCE   10 (residues 1 to 312)
  AUTHORS   Boss O, Samec S, Paoloni-Giacobino A, Rossier C, Dulloo A, Seydoux
            J, Muzzin P and Giacobino JP.
  TITLE     Uncoupling protein-3: a new member of the mitochondrial carrier
            family with tissue-specific expression
  JOURNAL   FEBS Lett 408 (1), 39-42 (1997)
   PUBMED   9180264
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA876282.1, U84763.1,
            BC008392.1, BU618868.1, AW295096.1 and AP003717.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: Mitochondrial uncoupling proteins (UCP) are members of the
            larger family of mitochondrial anion carrier proteins (MACP). UCPs
            separate oxidative phosphorylation from ATP synthesis with energy
            dissipated as heat, also referred to as the mitochondrial proton
            leak. UCPs facilitate the transfer of anions from the inner to the
            outer mitochondrial membrane and the return transfer of protons
            from the outer to the inner mitochondrial membrane. They also
            reduce the mitochondrial membrane potential in mammalian cells. The
            different UCPs have tissue-specific expression; this gene is
            primarily expressed in skeletal muscle. This gene's protein product
            is postulated to protect mitochondria against lipid-induced
            oxidative stress. Expression levels of this gene increase when
            fatty acid supplies to mitochondria exceed their oxidation capacity
            and the protein enables the export of fatty acids from
            mitochondria. UCPs contain the three solcar protein domains
            typically found in MACPs. Two splice variants have been found for
            this gene.[provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (long) encodes the full length
            isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR279875.3233.1, ERR279867.2173.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000314032.9/
                                                  ENSP00000323740.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..312
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..312
                     /product="mitochondrial uncoupling protein 3 isoform
                     UCP3L"
                     /note="mitochondrial uncoupling protein 3; solute carrier
                     family 25 member 9; uncoupling protein 3 (mitochondrial,
                     proton carrier)"
                     /calculated_mol_wt=34085
     Region          10..110
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          11..105
                     /region_name="Solcar 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P55916.1)"
     Site            11..32
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P55916.1)"
     Site            77..99
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P55916.1)"
     Region          112..210
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          114..206
                     /region_name="Solcar 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P55916.1)"
     Site            120..136
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P55916.1)"
     Site            184..200
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P55916.1)"
     Region          214..303
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          215..300
                     /region_name="Solcar 3"
                     /note="propagated from UniProtKB/Swiss-Prot (P55916.1)"
     Site            218..237
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P55916.1)"
     Site            272..294
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P55916.1)"
     Region          279..301
                     /region_name="Purine nucleotide binding.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P55916.1)"
     CDS             1..312
                     /gene="UCP3"
                     /gene_synonym="SLC25A9"
                     /coded_by="NM_003356.4:204..1142"
                     /note="isoform UCP3L is encoded by transcript variant
                     long"
                     /db_xref="CCDS:CCDS8229.1"
                     /db_xref="GeneID:7352"
                     /db_xref="HGNC:HGNC:12519"
                     /db_xref="MIM:602044"
ORIGIN      
        1 mvglkpsdvp ptmavkflga gtaacfadlv tfpldtakvr lqiqgenqav qtarlvqyrg
       61 vlgtiltmvr tegpcspyng lvaglqrqms fasiriglyd svkqvytpkg adnsslttri
      121 lagcttgama vtcaqptdvv kvrfqasihl gpsrsdrkys gtmdayrtia reegvrglwk
      181 gtlpnimrna ivncaevvty dilkeklldy hlltdnfpch fvsafgagfc atvvaspvdv
      241 vktrymnspp gqyfspldcm ikmvaqegpt afykgftpsf lrlgswnvvm fvtyeqlkra
      301 lmkvqmlres pf
//
LOCUS       NP_060189                765 aa            linear   PRI 26-MAR-2023
DEFINITION  SNF-related serine/threonine-protein kinase isoform 1 [Homo
            sapiens].
ACCESSION   NP_060189
VERSION     NP_060189.3
DBSOURCE    REFSEQ: accession NM_017719.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 765)
  AUTHORS   Xie Z, Tang J, Chen Z, Wei L, Chen J and Liu Q.
  TITLE     Human bone marrow mesenchymal stem cell-derived extracellular
            vesicles reduce inflammation and pyroptosis in acute kidney injury
            via miR-223-3p/HDAC2/SNRK
  JOURNAL   Inflamm Res 72 (3), 553-576 (2023)
   PUBMED   36640195
  REMARK    GeneRIF: Human bone marrow mesenchymal stem cell-derived
            extracellular vesicles reduce inflammation and pyroptosis in acute
            kidney injury via miR-223-3p/HDAC2/SNRK.
REFERENCE   2  (residues 1 to 765)
  AUTHORS   Wang YL, Wang J, Chen X, Wang ZX and Wu JW.
  TITLE     Crystal structure of the kinase and UBA domains of SNRK reveals a
            distinct UBA binding mode in the AMPK family
  JOURNAL   Biochem Biophys Res Commun 495 (1), 1-6 (2018)
   PUBMED   29061304
  REMARK    GeneRIF: Report the crystal structure of an N-terminal SNRK
            fragment containing kinase and adjacent ubiquitin-associated (UBA)
            domains. This structure shows that the UBA domain binds between the
            N- and C-lobes of the kinase domain. The mode of UBA binding in
            SNRK largely resembles that in AMPK and brain specific kinase
            (BRSK), however, unique interactions play vital roles in
            stabilizing the KD-UBA interface of SNRK.
REFERENCE   3  (residues 1 to 765)
  AUTHORS   Hopp EE, Cossette SM, Kumar SN, Eastwood D, Ramchandran R and
            Bishop E.
  TITLE     Sucrose Non-Fermenting Related Kinase Expression in Ovarian Cancer
            and Correlation with Clinical Features
  JOURNAL   Cancer Invest 35 (7), 456-462 (2017)
   PUBMED   28722495
  REMARK    GeneRIF: Differential expression of SNRK in early versus late stage
            disease suggests specific roles for SNRK in ovarian cancer
            metastasis.
REFERENCE   4  (residues 1 to 765)
  AUTHORS   Rines AK, Chang HC, Wu R, Sato T, Khechaduri A, Kouzu H, Shapiro J,
            Shang M, Burke MA, Abdelwahid E, Jiang X, Chen C, Rawlings TA,
            Lopaschuk GD, Schumacker PT, Abel ED and Ardehali H.
  TITLE     Snf1-related kinase improves cardiac mitochondrial efficiency and
            decreases mitochondrial uncoupling
  JOURNAL   Nat Commun 8, 14095 (2017)
   PUBMED   28117339
  REMARK    GeneRIF: Study shows that TRIB3 binds to SNRK, and downregulates
            UCP3 through PPARalpha. SNRK is increased in cardiomyopathy
            patients, and SNRK reduces infarct size after
            ischaemia/reperfusion. SNRK also decreases cardiac cell death in a
            UCP3-dependent manner.
            Erratum:[Nat Commun. 2017 Aug 30;8:16155. PMID: 28853433]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 765)
  AUTHORS   Cossette SM, Bhute VJ, Bao X, Harmann LM, Horswill MA, Sinha I,
            Gastonguay A, Pooya S, Bordas M, Kumar SN, Mirza SP, Palecek SP,
            Strande JL and Ramchandran R.
  TITLE     Sucrose Nonfermenting-Related Kinase Enzyme-Mediated Rho-Associated
            Kinase Signaling is Responsible for Cardiac Function
  JOURNAL   Circ Cardiovasc Genet 9 (6), 474-486 (2016)
   PUBMED   27780848
  REMARK    GeneRIF: SNRK in cardiomyocytes is responsible for maintaining
            cardiac metabolic homeostasis, which is mediated in part by ROCK,
            and alteration of this homeostasis influences cardiac function in
            the adult heart.
REFERENCE   6  (residues 1 to 765)
  AUTHORS   Bower KE, Zeller RW, Wachsman W, Martinez T and McGuire KL.
  TITLE     Correlation of transcriptional repression by p21(SNFT) with changes
            in DNA.NF-AT complex interactions
  JOURNAL   J Biol Chem 277 (38), 34967-34977 (2002)
   PUBMED   12087103
REFERENCE   7  (residues 1 to 765)
  AUTHORS   Kertesz N, Samson J, Debacker C, Wu H and Labastie MC.
  TITLE     Cloning and characterization of human and mouse SNRK sucrose
            non-fermenting protein (SNF-1)-related kinases
  JOURNAL   Gene 294 (1-2), 13-24 (2002)
   PUBMED   12234663
REFERENCE   8  (residues 1 to 765)
  AUTHORS   Yoshida K, Yamada M, Nishio C, Konishi A and Hatanaka H.
  TITLE     SNRK, a member of the SNF1 family, is related to low K(+)-induced
            apoptosis of cultured rat cerebellar granule neurons
  JOURNAL   Brain Res 873 (2), 274-282 (2000)
   PUBMED   10930554
REFERENCE   9  (residues 1 to 765)
  AUTHORS   Iacobelli M, Wachsman W and McGuire KL.
  TITLE     Repression of IL-2 promoter activity by the novel basic leucine
            zipper p21SNFT protein
  JOURNAL   J Immunol 165 (2), 860-868 (2000)
   PUBMED   10878360
REFERENCE   10 (residues 1 to 765)
  AUTHORS   Becker W, Heukelbach J, Kentrup H and Joost HG.
  TITLE     Molecular cloning and characterization of a novel mammalian protein
            kinase harboring a homology domain that defines a subfamily of
            serine/threonine kinases
  JOURNAL   Eur J Biochem 235 (3), 736-743 (1996)
   PUBMED   8654423
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP281284.1, D43636.2, DB080037.1 and AK025449.1.
            On Aug 17, 2007 this sequence version replaced NP_060189.2.
            
            Summary: SNRK is a member of the sucrose nonfermenting
            (SNF)-related kinase family of serine/threonine kinases (Kertesz et
            al., 2002 [PubMed 12234663]).[supplied by OMIM, Apr 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.140063.1,
                                           SRR1660809.65309.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296088.12/ ENSP00000296088.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..765
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.1"
     Protein         1..765
                     /product="SNF-related serine/threonine-protein kinase
                     isoform 1"
                     /EC_number="2.7.11.1"
                     /note="SNF-1 related kinase; SNF-related
                     serine/threonine-protein kinase; SNF1-related kinase"
                     /calculated_mol_wt=84145
     Region          12..269
                     /region_name="STKc_SNRK"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     SNF1-related kinase; cd14074"
                     /db_xref="CDD:270976"
     Site            order(22..26,30,43,45,76,92..95,99,101..102,104,138..139,
                     141,143..144,146,157..158,161,175..179,181,211..214)
                     /site_type="active"
                     /db_xref="CDD:270976"
     Site            order(22..25,30,43,45,76,92..95,99,143..144,146,157..158)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270976"
     Site            order(99,101..102,104,139,141,143,161,175..179,181,
                     211..214)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270976"
     Site            157..179
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270976"
     Site            162
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VDU5; propagated from
                     UniProtKB/Swiss-Prot (Q9NRH2.2)"
     Site            173
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by LKB1.
                     /evidence=ECO:0000269|PubMed:15733851; propagated from
                     UniProtKB/Swiss-Prot (Q9NRH2.2)"
     Region          288..335
                     /region_name="UBA_SNRK"
                     /note="UBA domain of SNF-related serine/threonine-protein
                     kinase (SNRK) and similar proteins mainly found in
                     metazoa; cd14339"
                     /db_xref="CDD:270524"
     Site            362
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VDU5; propagated from
                     UniProtKB/Swiss-Prot (Q9NRH2.2)"
     Site            390
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9NRH2.2)"
     Site            482
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VDU5; propagated from
                     UniProtKB/Swiss-Prot (Q9NRH2.2)"
     Site            495
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q63553; propagated from
                     UniProtKB/Swiss-Prot (Q9NRH2.2)"
     Region          512..634
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRH2.2)"
     Site            518
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NRH2.2)"
     Site            534
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8VDU5; propagated from
                     UniProtKB/Swiss-Prot (Q9NRH2.2)"
     Site            607
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NRH2.2)"
     CDS             1..765
                     /gene="SNRK"
                     /gene_synonym="HSNFRK"
                     /coded_by="NM_017719.5:305..2602"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS43075.1"
                     /db_xref="GeneID:54861"
                     /db_xref="HGNC:HGNC:30598"
                     /db_xref="MIM:612760"
ORIGIN      
        1 magfkrgydg kiaglydldk tlgrghfavv klarhvftge kvavkvidkt kldtlatghl
       61 fqevrcmklv qhpnivrlye vidtqtklyl ilelgdggdm fdyimkheeg lnedlakkyf
      121 aqivhaisyc hklhvvhrdl kpenvvffek qglvkltdfg fsnkfqpgkk lttscgslay
      181 sapeillgde ydapavdiws lgvilfmlvc gqppfqeand setltmimdc kytvpshvsk
      241 eckdlitrml qrdpkrrasl eeienhpwlq gvdpspatky niplvsyknl seeehnsiiq
      301 rmvlgdiadr daivealetn rynhitatyf llaerilrek qekeiqtrsa spsnikaqfr
      361 qswptkidvp qdleddltat plshatvpqs paraadsvln ghrskglcds akkddlpela
      421 gpalstvppa slkptasgrk clfrveedee edeedkkpms lstqvvlrrk psvtnrltsr
      481 ksapvlnqif eegesddefd mdenlppkls rlkmniaspg tvhkryhrrk sqgrgsscss
      541 setsdddses rrrldkdsgf tyswhrrdss egppgsegdg ggqskpsnas ggvdkaspse
      601 nnagggspss gsggnptnts gttrrcagps nsmqlasrsa gelveslklm slclgsqlhg
      661 stkyiidpqn glsfssvkvq ekstwkmcis stgnagqvpa vggikffsdh madttteler
      721 iksknlknnv lqlplcekti svniqrnpke gllcasspas cchvi
//
LOCUS       NP_001137299             315 aa            linear   PRI 03-APR-2023
DEFINITION  microtubule-associated protein RP/EB family member 2 isoform 3
            [Homo sapiens].
ACCESSION   NP_001137299
VERSION     NP_001137299.1
DBSOURCE    REFSEQ: accession NM_001143827.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 315)
  AUTHORS   Zhang D, Pan G, Cheng N, Sun L, Zhou X, Li C and Zhao J.
  TITLE     JUND facilitates proliferation and angiogenesis of esophageal
            squamous cell carcinoma cell via MAPRE2 up-regulation
  JOURNAL   Tissue Cell 81, 102010 (2023)
   PUBMED   36608637
  REMARK    GeneRIF: JUND facilitates proliferation and angiogenesis of
            esophageal squamous cell carcinoma cell via MAPRE2 up-regulation.
REFERENCE   2  (residues 1 to 315)
  AUTHORS   Zhang D, Li C, Cheng N, Sun L, Zhou X, Pan G and Zhao J.
  TITLE     CircAGFG1 acts as a sponge of miR-4306 to stimulate esophageal
            cancer progression by modulating MAPRE2 expression
  JOURNAL   Acta Histochem 123 (7), 151776 (2021)
   PUBMED   34461454
  REMARK    GeneRIF: CircAGFG1 acts as a sponge of miR-4306 to stimulate
            esophageal cancer progression by modulating MAPRE2 expression.
REFERENCE   3  (residues 1 to 315)
  AUTHORS   Thues C, Valadas JS, Deaulmerie L, Geens A, Chouhan AK,
            Duran-Romana R, Schymkowitz J, Rousseau F, Bartusel M, Rehimi R,
            Rada-Iglesias A, Verstreken P and Van Esch H.
  TITLE     MAPRE2 mutations result in altered human cranial neural crest
            migration, underlying craniofacial malformations in CSC-KT syndrome
  JOURNAL   Sci Rep 11 (1), 4976 (2021)
   PUBMED   33654163
  REMARK    GeneRIF: MAPRE2 mutations result in altered human cranial neural
            crest migration, underlying craniofacial malformations in CSC-KT
            syndrome.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 315)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 315)
  AUTHORS   Wadle A, Thiel G, Mischo A, Jung V, Pfreundschuh M and Renner C.
  TITLE     Chromosomal localization and promoter analysis of the adenomatous
            polyposis coli binding protein RP1
  JOURNAL   Oncogene 20 (41), 5920-5929 (2001)
   PUBMED   11593399
REFERENCE   6  (residues 1 to 315)
  AUTHORS   Su LK and Qi Y.
  TITLE     Characterization of human MAPRE genes and their proteins
  JOURNAL   Genomics 71 (2), 142-149 (2001)
   PUBMED   11161807
REFERENCE   7  (residues 1 to 315)
  AUTHORS   Juwana JP, Henderikx P, Mischo A, Wadle A, Fadle N, Gerlach K,
            Arends JW, Hoogenboom H, Pfreundschuh M and Renner C.
  TITLE     EB/RP gene family encodes tubulin binding proteins
  JOURNAL   Int J Cancer 81 (2), 275-284 (1999)
   PUBMED   10188731
REFERENCE   8  (residues 1 to 315)
  AUTHORS   Morrison EE, Wardleworth BN, Askham JM, Markham AF and Meredith DM.
  TITLE     EB1, a protein which interacts with the APC tumour suppressor, is
            associated with the microtubule cytoskeleton throughout the cell
            cycle
  JOURNAL   Oncogene 17 (26), 3471-3477 (1998)
   PUBMED   10030671
REFERENCE   9  (residues 1 to 315)
  AUTHORS   Berrueta L, Kraeft SK, Tirnauer JS, Schuyler SC, Chen LB, Hill DE,
            Pellman D and Bierer BE.
  TITLE     The adenomatous polyposis coli-binding protein EB1 is associated
            with cytoplasmic and spindle microtubules
  JOURNAL   Proc Natl Acad Sci U S A 95 (18), 10596-10601 (1998)
   PUBMED   9724749
REFERENCE   10 (residues 1 to 315)
  AUTHORS   Renner C, Pfitzenmeier JP, Gerlach K, Held G, Ohnesorge S, Sahin U,
            Bauer S and Pfreundschuh M.
  TITLE     RP1, a new member of the adenomatous polyposis coli-binding
            EB1-like gene family, is differentially expressed in activated T
            cells
  JOURNAL   J Immunol 159 (3), 1276-1283 (1997)
   PUBMED   9233623
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK294833.1, AC015967.8 and
            BM673789.1.
            
            Summary: The protein encoded by this gene shares significant
            homology to the adenomatous polyposis coli (APC) protein-binding
            EB1 gene family. This protein is a microtubule-associated protein
            that is necessary for spindle symmetry during mitosis. It is
            thought to play a role in the tumorigenesis of colorectal cancers
            and the proliferative control of normal cells. Alternative splicing
            of this gene results in multiple transcript variants. [provided by
            RefSeq, Jan 2012].
            
            Transcript Variant: This variant (3) has alternate 5' exon
            structure and it thus differs in the 5' UTR and 5' coding region,
            compared to variant 1. The encoded isoform (3) has a distinct
            N-terminus and is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.21045.1,
                                           SRR1803612.142565.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..315
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1-q12.2"
     Protein         1..315
                     /product="microtubule-associated protein RP/EB family
                     member 2 isoform 3"
                     /note="T-cell activation protein, EB1 family; APC-binding
                     protein EB1; end-binding protein 2; APC-binding protein
                     EB2"
                     /calculated_mol_wt=35610
     Region          47..301
                     /region_name="BIM1"
                     /note="Microtubule-binding protein involved in cell cycle
                     control [Cell division and chromosome partitioning /
                     Cytoskeleton]; COG5217"
                     /db_xref="CDD:227542"
     CDS             1..315
                     /gene="MAPRE2"
                     /gene_synonym="CSCSC2; EB1; EB2; RP1"
                     /coded_by="NM_001143827.3:151..1098"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS45850.1"
                     /db_xref="GeneID:10982"
                     /db_xref="HGNC:HGNC:6891"
                     /db_xref="MIM:605789"
ORIGIN      
        1 mkqnrdqkcp vsqrnssfqq pgrkpgcssw gmavnvysts itqetmsrhd iiawvndivs
       61 lnytkveqlc sgaaycqfmd mlfpgcislk kvkfqakleh eyihnfkllq asfkrmnvdk
      121 vipveklvkg rfqdnldfiq wfkkfydany dgkeydpvea rqgqdaippp dpgeqifnlp
      181 kkshhanspt agaaksspaa kpgstpsrps sakrasssgs asksdkdlet qviqlneqvh
      241 slklalegve kerdfyfgkl reiellcqeh gqenddlvqr lmdilyasee heghteepea
      301 eeqaheqqpp qqeey
//
LOCUS       NP_001344786             185 aa            linear   PRI 03-APR-2023
DEFINITION  ataxin-1 isoform Alt-ATXN1 [Homo sapiens].
ACCESSION   NP_001344786
VERSION     NP_001344786.1
DBSOURCE    REFSEQ: accession NM_001357857.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 185)
  AUTHORS   Lou LQ, Zhou WQ, Song X and Chen Z.
  TITLE     Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex
            targets ATXN1 to trigger NF-kappaB-dependent inflammation response
  JOURNAL   J Mol Med (Berl) 101 (3), 223-235 (2023)
   PUBMED   36629882
  REMARK    GeneRIF: Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1
            complex targets ATXN1 to trigger NF-kappaB-dependent inflammation
            response.
REFERENCE   2  (residues 1 to 185)
  AUTHORS   Tammara V and Das A.
  TITLE     Governing dynamics and preferential binding of the AXH domain
            influence the aggregation pathway of Ataxin-1
  JOURNAL   Proteins 91 (3), 380-394 (2023)
   PUBMED   36208132
  REMARK    GeneRIF: Governing dynamics and preferential binding of the AXH
            domain influence the aggregation pathway of Ataxin-1.
REFERENCE   3  (residues 1 to 185)
  AUTHORS   Ma Q, Oksenberg JR and Didonna A.
  TITLE     Epigenetic control of ataxin-1 in multiple sclerosis
  JOURNAL   Ann Clin Transl Neurol 9 (8), 1186-1194 (2022)
   PUBMED   35903875
  REMARK    GeneRIF: Epigenetic control of ataxin-1 in multiple sclerosis.
REFERENCE   4  (residues 1 to 185)
  AUTHORS   Chen JM, Chen SK, Jin PP and Sun SC.
  TITLE     Identification of the ataxin-1 interaction network and its impact
            on spinocerebellar ataxia type 1
  JOURNAL   Hum Genomics 16 (1), 29 (2022)
   PUBMED   35906672
  REMARK    GeneRIF: Identification of the ataxin-1 interaction network and its
            impact on spinocerebellar ataxia type 1.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 185)
  AUTHORS   Bergeron D, Lapointe C, Bissonnette C, Tremblay G, Motard J and
            Roucou X.
  TITLE     An out-of-frame overlapping reading frame in the ataxin-1 coding
            sequence encodes a novel ataxin-1 interacting protein
  JOURNAL   J Biol Chem 288 (30), 21824-21835 (2013)
   PUBMED   23760502
  REMARK    GeneRIF: Data indicate that the alternative ataxin-1 (ATXN1)
            protein is constitutively co-expressed and interacts with ATXN1.
REFERENCE   6  (residues 1 to 185)
  AUTHORS   Servadio A, Koshy B, Armstrong D, Antalffy B, Orr HT and Zoghbi HY.
  TITLE     Expression analysis of the ataxin-1 protein in tissues from normal
            and spinocerebellar ataxia type 1 individuals
  JOURNAL   Nat Genet 10 (1), 94-98 (1995)
   PUBMED   7647801
REFERENCE   7  (residues 1 to 185)
  AUTHORS   Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, Duvick
            LA, Shen Y, Roth EJ, Orr HT and Zoghbi HY.
  TITLE     Identification and characterization of the gene causing type 1
            spinocerebellar ataxia
  JOURNAL   Nat Genet 7 (4), 513-520 (1994)
   PUBMED   7951322
REFERENCE   8  (residues 1 to 185)
  AUTHORS   Opal,P. and Ashizawa,T.
  TITLE     Spinocerebellar Ataxia Type 1
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301363
REFERENCE   9  (residues 1 to 185)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
REFERENCE   10 (residues 1 to 185)
  AUTHORS   Volz A, Fonatsch C and Ziegler A.
  TITLE     Regional mapping of the gene for autosomal dominant spinocerebellar
            ataxia (SCA1) by localizing the closely linked D6S89 locus to
            6p24.2----p23.05
  JOURNAL   Cytogenet Cell Genet 60 (1), 37-39 (1992)
   PUBMED   1582256
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC011026.1, X79204.1 and
            AL009031.1.
            
            Summary: The autosomal dominant cerebellar ataxias (ADCA) are a
            heterogeneous group of neurodegenerative disorders characterized by
            progressive degeneration of the cerebellum, brain stem and spinal
            cord. Clinically, ADCA has been divided into three groups: ADCA
            types I-III. ADCAI is genetically heterogeneous, with five genetic
            loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6,
            being assigned to five different chromosomes. ADCAII, which always
            presents with retinal degeneration (SCA7), and ADCAIII often
            referred to as the `pure' cerebellar syndrome (SCA5), are most
            likely homogeneous disorders. Several SCA genes have been cloned
            and shown to contain CAG repeats in their coding regions. ADCA is
            caused by the expansion of the CAG repeats, producing an elongated
            polyglutamine tract in the corresponding protein. The expanded
            repeats are variable in size and unstable, usually increasing in
            size when transmitted to successive generations. The function of
            the ataxins is not known. This locus has been mapped to chromosome
            6, and it has been determined that the diseased allele contains
            40-83 CAG repeats, compared to 6-39 in the normal allele, and is
            associated with spinocerebellar ataxia type 1 (SCA1). Alternative
            splicing results in multiple transcript variants, with one variant
            encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to
            the use of overlapping alternate reading frames. [provided by
            RefSeq, Nov 2017].
            
            Transcript Variant: This variant (1) encodes multiple distinct
            proteins due to the use of alternative translation initiation
            codons. The longer, 815 aa protein represents the canonical
            protein, while a shorter 185 aa protein(Alt-ATXN1, PMID:23760502)
            that uses a different reading frame has also been described.
            Alt-ATXN1 does not share structural similarity to the ATXN1, but
            has been shown to interact with the ATXN1. This RefSeq represents
            the shorter protein, Alt-ATXN1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X79204.1, SRR14038197.970143.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            NMD candidate :: PMID: 23760502
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..185
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.3"
     Protein         1..185
                     /product="ataxin-1 isoform Alt-ATXN1"
                     /note="alternative ataxin1; spinocerebellar ataxia type 1
                     protein"
                     /calculated_mol_wt=19850
     CDS             1..185
                     /gene="ATXN1"
                     /gene_synonym="ATX1; D6S504E; SCA1"
                     /coded_by="NM_001357857.2:971..1528"
                     /note="isoform Alt-ATXN1 is encoded by transcript variant
                     1"
                     /db_xref="CCDS:CCDS87367.1"
                     /db_xref="GeneID:6310"
                     /db_xref="HGNC:HGNC:10548"
                     /db_xref="MIM:601556"
ORIGIN      
        1 mpasqeardp rhqpvlrgeg pypaqrqppg gghsmapgqp wwpgprgrea wagrdlggaw
       61 fttgnrftqs ivhragllpa qrsqvcprgh haacrvrhpa ardpgvprav rspaahlpvh
      121 wvlpiqwnlc qlhpitadpp nrqprhqcsg lgrrghhsip alpagglfhs agqhgqsepd
      181 agtqg
//
LOCUS       NP_001364243             367 aa            linear   PRI 10-APR-2023
DEFINITION  NF-kappa-B essential modulator isoform e [Homo sapiens].
ACCESSION   NP_001364243
VERSION     NP_001364243.1
DBSOURCE    REFSEQ: accession NM_001377314.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 367)
  AUTHORS   Nie Y, Mou L, Long Q, Deng D, Hu R, Cheng J and Wu J.
  TITLE     SARS-CoV-2 ORF3a positively regulates NF-kappaB activity by
            enhancing IKKbeta-NEMO interaction
  JOURNAL   Virus Res 328, 199086 (2023)
   PUBMED   36894068
  REMARK    GeneRIF: SARS-CoV-2 ORF3a positively regulates NF-kappaB activity
            by enhancing IKKbeta-NEMO interaction.
REFERENCE   2  (residues 1 to 367)
  AUTHORS   Yang Z, Pan X, Wu X, Lin Q, Chen Y, Cai S, Zhang Y, Mai Z, Ahmad N,
            Ma D and Deng L.
  TITLE     TREM-1 induces pyroptosis in cardiomyocytes by activating NLRP3
            inflammasome through the SMC4/NEMO pathway
  JOURNAL   FEBS J 290 (6), 1549-1562 (2023)
   PUBMED   36181338
  REMARK    GeneRIF: TREM-1 induces pyroptosis in cardiomyocytes by activating
            NLRP3 inflammasome through the SMC4/NEMO pathway.
REFERENCE   3  (residues 1 to 367)
  AUTHORS   Chen H, Chen X, Zhang Z, Bao W, Gao Z, Li D, Xie X, Zhou P, Yang C,
            Zhou Z, Pan J, Kuang X, Tang R, Feng Z, Zhou L, Zhu D, Yang J, Wang
            L, Huang H, Tang D, Liu J and Jiang L.
  TITLE     Extracellular vesicles-transferred SBSN drives glioma
            aggressiveness by activating NF-kappaB via ANXA1-dependent
            ubiquitination of NEMO
  JOURNAL   Oncogene 41 (49), 5253-5265 (2022)
   PUBMED   36316443
  REMARK    GeneRIF: Extracellular vesicles-transferred SBSN drives glioma
            aggressiveness by activating NF-kappaB via ANXA1-dependent
            ubiquitination of NEMO.
REFERENCE   4  (residues 1 to 367)
  AUTHORS   Lee Y, Wessel AW, Xu J, Reinke JG, Lee E, Kim SM, Hsu AP,
            Zilberman-Rudenko J, Cao S, Enos C, Brooks SR, Deng Z, Lin B, de
            Jesus AA, Hupalo DN, Piotto DG, Terreri MT, Dimitriades VR, Dalgard
            CL, Holland SM, Goldbach-Mansky R, Siegel RM and Hanson EP.
  TITLE     Genetically programmed alternative splicing of NEMO mediates an
            autoinflammatory disease phenotype
  JOURNAL   J Clin Invest 132 (6) (2022)
   PUBMED   35289316
  REMARK    GeneRIF: Genetically programmed alternative splicing of NEMO
            mediates an autoinflammatory disease phenotype.
REFERENCE   5  (residues 1 to 367)
  AUTHORS   Li Y, Kang J, Friedman J, Tarassishin L, Ye J, Kovalenko A, Wallach
            D and Horwitz MS.
  TITLE     Identification of a cell protein (FIP-3) as a modulator of
            NF-kappaB activity and as a target of an adenovirus inhibitor of
            tumor necrosis factor alpha-induced apoptosis
  JOURNAL   Proc Natl Acad Sci U S A 96 (3), 1042-1047 (1999)
   PUBMED   9927690
REFERENCE   6  (residues 1 to 367)
  AUTHORS   Mercurio F, Murray BW, Shevchenko A, Bennett BL, Young DB, Li JW,
            Pascual G, Motiwala A, Zhu H, Mann M and Manning AM.
  TITLE     IkappaB kinase (IKK)-associated protein 1, a common component of
            the heterogeneous IKK complex
  JOURNAL   Mol Cell Biol 19 (2), 1526-1538 (1999)
   PUBMED   9891086
REFERENCE   7  (residues 1 to 367)
  AUTHORS   Rothwarf DM, Zandi E, Natoli G and Karin M.
  TITLE     IKK-gamma is an essential regulatory subunit of the IkappaB kinase
            complex
  JOURNAL   Nature 395 (6699), 297-300 (1998)
   PUBMED   9751060
REFERENCE   8  (residues 1 to 367)
  AUTHORS   Arch RH, Gedrich RW and Thompson CB.
  TITLE     Tumor necrosis factor receptor-associated factors (TRAFs)--a family
            of adapter proteins that regulates life and death
  JOURNAL   Genes Dev 12 (18), 2821-2830 (1998)
   PUBMED   9744859
  REMARK    Review article
REFERENCE   9  (residues 1 to 367)
  AUTHORS   Scheuerle,A.E. and Ursini,M.V.
  TITLE     Incontinentia Pigmenti
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301645
REFERENCE   10 (residues 1 to 367)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC244090.3.
            
            Summary: This gene encodes the regulatory subunit of the inhibitor
            of kappaB kinase (IKK) complex, which activates NF-kappaB resulting
            in activation of genes involved in inflammation, immunity, cell
            survival, and other pathways. Mutations in this gene result in
            incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and
            several other types of immunodeficiencies. A pseudogene highly
            similar to this locus is located in an adjacent region of the X
            chromosome. [provided by RefSeq, Mar 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.2006225.1,
                                           SRR14478891.2183022.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..367
                     /product="NF-kappa-B essential modulator isoform e"
                     /note="incontinentia pigmenti; NF-kappa-B essential
                     modulator; ikB kinase subunit gamma; inhibitor of kappa
                     light polypeptide gene enhancer in B-cells, kinase gamma;
                     NF-kappa-B essential modifier; I-kappa-B kinase subunit
                     gamma; ikB kinase-associated protein 1; inhibitor of
                     nuclear factor kappa B kinase subunit gamma; 14.7K
                     (adenovirus E3 protein) interacting protein 3"
                     /calculated_mol_wt=42162
     Region          44..110
                     /region_name="NEMO"
                     /note="NF-kappa-B essential modulator NEMO; pfam11577"
                     /db_xref="CDD:431942"
     Region          <51..>239
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          206..292
                     /region_name="UBAN"
                     /note="polyubiquitin binding domain of NEMO and related
                     proteins; cd09803"
                     /db_xref="CDD:197361"
     Site            order(207..208,211..212,214..215,218,221..222,225..226,
                     228..229,232,236,239,246,249,252..253,256,259..260,
                     263..264,266..267,270..271,274,278,281,285,288)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:197361"
     Site            order(244,248..249,251..252,255..257,259..260,262..264,
                     267..268,271..272,275)
                     /site_type="other"
                     /note="polyubiquitin binding site [polypeptide binding]"
                     /db_xref="CDD:197361"
     Region          341..366
                     /region_name="zf_C2H2_10"
                     /note="C2H2 type zinc-finger; pfam18414"
                     /db_xref="CDD:436483"
     CDS             1..367
                     /gene="IKBKG"
                     /gene_synonym="AMCBX1; EDAID1; FIP-3; FIP3; Fip3p;
                     IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO;
                     SAIDX; ZC2HC9"
                     /coded_by="NM_001377314.1:142..1245"
                     /note="isoform e is encoded by transcript variant 9"
                     /db_xref="GeneID:8517"
                     /db_xref="HGNC:HGNC:5961"
                     /db_xref="MIM:300248"
ORIGIN      
        1 mnrhlwksql cemvqpsggp aadqdvlgee splgkpamlh lpseqgapet lqrcleenqe
       61 lrdairqsnq ilrerceell hfqasqreek eflmckfqea rklverlgle kldlkrqkeq
      121 alrevehlkr cqqmaedkas vkaqvtsllg elqesqsrle aatkecqale grrklaqlqv
      181 ayhqlfqeyd nhikssvvgs erkrgmqled lkqqlqqaee alvakqevid klkeeaeqhk
      241 ivmetvpvlk aqadiykadf qaerqarekl aekkellqeq leqlqreysk lkascqesar
      301 iedmrkrhve vsqaplppap aylssplalp sqrrsppeep pdfccpkcqy qapdmdtlqi
      361 hvmecie
//
LOCUS       NP_001167461             145 aa            linear   PRI 14-APR-2023
DEFINITION  transmembrane protein 216 isoform 2 [Homo sapiens].
ACCESSION   NP_001167461
VERSION     NP_001167461.1
DBSOURCE    REFSEQ: accession NM_001173990.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 145)
  AUTHORS   D'Angelo L, Astro E, De Luise M, Kurelac I, Umesh-Ganesh N, Ding S,
            Fearnley IM, Gasparre G, Zeviani M, Porcelli AM, Fernandez-Vizarra
            E and Iommarini L.
  TITLE     NDUFS3 depletion permits complex I maturation and reveals
            TMEM126A/OPA7 as an assembly factor binding the ND4-module
            intermediate
  JOURNAL   Cell Rep 35 (3), 109002 (2021)
   PUBMED   33882309
REFERENCE   2  (residues 1 to 145)
  AUTHORS   Lambacher NJ, Bruel AL, van Dam TJ, Szymanska K, Slaats GG, Kuhns
            S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L,
            Doummar D, Riviere JB, Faivre L, Attie-Bitach T, Saunier S, Curd A,
            Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C and
            Blacque OE.
  TITLE     TMEM107 recruits ciliopathy proteins to subdomains of the ciliary
            transition zone and causes Joubert syndrome
  JOURNAL   Nat Cell Biol 18 (1), 122-131 (2016)
   PUBMED   26595381
REFERENCE   3  (residues 1 to 145)
  AUTHORS   Venkatesh B, Ravi V, Lee AP, Warren WC and Brenner S.
  TITLE     Basal vertebrates clarify the evolutionary history of
            ciliopathy-associated genes Tmem138 and Tmem216
  JOURNAL   Mol Biol Evol 30 (1), 62-65 (2013)
   PUBMED   22936720
REFERENCE   4  (residues 1 to 145)
  AUTHORS   Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas
            SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan
            CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH,
            Attie-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters ER,
            Ferro-Novick S, Woods CG, Johnson CA, Valente EM, Zaki MS and
            Gleeson JG.
  TITLE     Evolutionarily assembled cis-regulatory module at a human
            ciliopathy locus
  JOURNAL   Science 335 (6071), 966-969 (2012)
   PUBMED   22282472
  REMARK    GeneRIF: study reports that mutation of either TMEM138 or TMEM216
            causes a phenotypically indistinguishable ciliopathy, Joubert
            syndrome; expression of the genes is mediated by a conserved
            regulatory element in the noncoding intergenic region
REFERENCE   5  (residues 1 to 145)
  AUTHORS   Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon GJ, Shanske AL,
            Gomori JM, Ekstein J and Elpeleg O.
  TITLE     Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a
            TMEM216 mutation
  JOURNAL   Am J Hum Genet 86 (1), 93-97 (2010)
   PUBMED   20036350
  REMARK    GeneRIF: a TMEM216 mutation may have a role in Joubert syndrome 2
            (JBTS2) in Ashkenazi Jews
            Erratum:[Am J Hum Genet. 2010 Feb;86(2):294. Shanske, Alan L
            [added]]
REFERENCE   6  (residues 1 to 145)
  AUTHORS   Keeler LC, Marsh SE, Leeflang EP, Woods CG, Sztriha L, Al-Gazali L,
            Gururaj A and Gleeson JG.
  TITLE     Linkage analysis in families with Joubert syndrome plus oculo-renal
            involvement identifies the CORS2 locus on chromosome 11p12-q13.3
  JOURNAL   Am J Hum Genet 73 (3), 656-662 (2003)
   PUBMED   12917796
REFERENCE   7  (residues 1 to 145)
  AUTHORS   Valente EM, Salpietro DC, Brancati F, Bertini E, Galluccio T,
            Tortorella G, Briuglia S and Dallapiccola B.
  TITLE     Description, nomenclature, and mapping of a novel cerebello-renal
            syndrome with the molar tooth malformation
  JOURNAL   Am J Hum Genet 73 (3), 663-670 (2003)
   PUBMED   12908130
REFERENCE   8  (residues 1 to 145)
  AUTHORS   Roume J, Genin E, Cormier-Daire V, Ma HW, Mehaye B, Attie T,
            Razavi-Encha F, Fallet-Bianco C, Buenerd A, Clerget-Darpoux F,
            Munnich A and Le Merrer M.
  TITLE     A gene for Meckel syndrome maps to chromosome 11q13
  JOURNAL   Am J Hum Genet 63 (4), 1095-1101 (1998)
   PUBMED   9758620
REFERENCE   9  (residues 1 to 145)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (residues 1 to 145)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK303687.1, AP003108.3 and
            AA022661.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This locus encodes a transmembrane domain-containing
            protein. Mutations at this locus have been associated with
            Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known
            as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.389487.1,
                                           SRR1163658.302095.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000515837.7/ ENSP00000440638.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..145
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.2"
     Protein         1..145
                     /product="transmembrane protein 216 isoform 2"
                     /calculated_mol_wt=16356
     Region          22..128
                     /region_name="Transmemb_17"
                     /note="Predicted membrane protein; pfam09799"
                     /db_xref="CDD:430835"
     Site            22..42
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0N5.3)"
     Site            56..76
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0N5.3)"
     Site            89..109
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0N5.3)"
     Site            122..142
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0N5.3)"
     CDS             1..145
                     /gene="TMEM216"
                     /gene_synonym="HSPC244"
                     /coded_by="NM_001173990.3:46..483"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS53640.1"
                     /db_xref="GeneID:51259"
                     /db_xref="HGNC:HGNC:25018"
                     /db_xref="MIM:613277"
ORIGIN      
        1 mlprglkmap rgkrlsstpl eilfflngwy natyfllelf iflykgvllp yptanlvldv
       61 vmlllylgie virlffgtkg nlcqrkmpls isvaltfpsa mmasyylllq tyvlrleaim
      121 ngillffcgs elllevltla afsri
//
LOCUS       NP_001248367             445 aa            linear   PRI 17-APR-2023
DEFINITION  ETS translocation variant 4 isoform 2 [Homo sapiens].
ACCESSION   NP_001248367
VERSION     NP_001248367.1
DBSOURCE    REFSEQ: accession NM_001261438.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 445)
  AUTHORS   Kolvenbach CM, Zheng B, Merz LM, Mertens ND, Mansour B, Wang C,
            Seltzsam S, Schneider S, Schierbaum L, Pantel D, Chen J, van der
            Ven AT, Bello JO, Shril S and Hildebrandt F.
  TITLE     A homozygous truncating ETV4 variant in a Nigerian family with
            congenital anomalies of the kidney and urinary tract
  JOURNAL   Am J Med Genet A 191 (5), 1355-1359 (2023)
   PUBMED   36694287
  REMARK    GeneRIF: A homozygous truncating ETV4 variant in a Nigerian family
            with congenital anomalies of the kidney and urinary tract.
REFERENCE   2  (residues 1 to 445)
  AUTHORS   Xu X, Wang B, Liu Y, Jing T, Xu G, Zhang L, Kun Jiao, Chen Z, Xiang
            L, Xu C, Yang Z and Liu Y.
  TITLE     ETV4 potentiates nuclear YAP retention and activities to enhance
            the progression of hepatocellular carcinoma
  JOURNAL   Cancer Lett 537, 215640 (2022)
   PUBMED   35296440
  REMARK    GeneRIF: ETV4 potentiates nuclear YAP retention and activities to
            enhance the progression of hepatocellular carcinoma.
REFERENCE   3  (residues 1 to 445)
  AUTHORS   Zheng C, Liu M, Ge Y, Qian Y and Fan H.
  TITLE     HBx increases chromatin accessibility and ETV4 expression to
            regulate dishevelled-2 and promote HCC progression
  JOURNAL   Cell Death Dis 13 (2), 116 (2022)
   PUBMED   35121725
  REMARK    GeneRIF: HBx increases chromatin accessibility and ETV4 expression
            to regulate dishevelled-2 and promote HCC progression.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 445)
  AUTHORS   Gao X, Jiang M, Chu Y, Han Y, Jin Y, Zhang W, Wang W, Yang S, Li W,
            Fan A, Cao J, Wang J, Liu H, Fu X, Chen D, Nie Y and Fan D.
  TITLE     ETV4 promotes pancreatic ductal adenocarcinoma metastasis through
            activation of the CXCL13/CXCR5 signaling axis
  JOURNAL   Cancer Lett 524, 42-56 (2022)
   PUBMED   34582976
  REMARK    GeneRIF: ETV4 promotes pancreatic ductal adenocarcinoma metastasis
            through activation of the CXCL13/CXCR5 signaling axis.
REFERENCE   5  (residues 1 to 445)
  AUTHORS   Wang B, Cai Y, Li X, Kong Y, Fu H and Zhou J.
  TITLE     ETV4 mediated lncRNA C2CD4D-AS1 overexpression contributes to the
            malignant phenotype of lung adenocarcinoma cells via
            miR-3681-3p/NEK2 axis
  JOURNAL   Cell Cycle 20 (24), 2607-2618 (2021)
   PUBMED   34850664
  REMARK    GeneRIF: ETV4 mediated lncRNA C2CD4D-AS1 overexpression contributes
            to the malignant phenotype of lung adenocarcinoma cells via
            miR-3681-3p/NEK2 axis.
REFERENCE   6  (residues 1 to 445)
  AUTHORS   Friedman LS, Ostermeyer EA, Lynch ED, Welcsh P, Szabo CI, Meza JE,
            Anderson LA, Dowd P, Lee MK, Rowell SE et al.
  TITLE     22 genes from chromosome 17q21: cloning, sequencing, and
            characterization of mutations in breast cancer families and tumors
  JOURNAL   Genomics 25 (1), 256-263 (1995)
   PUBMED   7774926
REFERENCE   7  (residues 1 to 445)
  AUTHORS   Liu SH, Peng BH, Ma JT, Liu YC and Ng SY.
  TITLE     Serum response element associated transcription factors in mouse
            embryos: serum response factor, YY1, and PEA3 factor
  JOURNAL   Dev Genet 16 (3), 229-240 (1995)
   PUBMED   7796532
REFERENCE   8  (residues 1 to 445)
  AUTHORS   Friedman LS, Ostermeyer EA, Lynch ED, Szabo CI, Anderson LA, Dowd
            P, Lee MK, Rowell SE, Boyd J and King MC.
  TITLE     The search for BRCA1
  JOURNAL   Cancer Res 54 (24), 6374-6382 (1994)
   PUBMED   7987831
REFERENCE   9  (residues 1 to 445)
  AUTHORS   Higashino F, Yoshida K, Fujinaga Y, Kamio K and Fujinaga K.
  TITLE     Isolation of a cDNA encoding the adenovirus E1A enhancer binding
            protein: a new human member of the ets oncogene family
  JOURNAL   Nucleic Acids Res 21 (3), 547-553 (1993)
   PUBMED   8441666
REFERENCE   10 (residues 1 to 445)
  AUTHORS   Xin JH, Cowie A, Lachance P and Hassell JA.
  TITLE     Molecular cloning and characterization of PEA3, a new member of the
            Ets oncogene family that is differentially expressed in mouse
            embryonic cells
  JOURNAL   Genes Dev 6 (3), 481-496 (1992)
   PUBMED   1547944
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC068675.17.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK299019.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..445
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..445
                     /product="ETS translocation variant 4 isoform 2"
                     /note="ets variant gene 4 (E1A enhancer-binding protein,
                     E1AF); EWS protein/E1A enhancer binding protein chimera;
                     adenovirus E1A enhancer-binding protein; polyomavirus
                     enhancer activator 3 homolog"
                     /calculated_mol_wt=49528
     Region          8..300
                     /region_name="ETS_PEA3_N"
                     /note="PEA3 subfamily ETS-domain transcription factor N
                     terminal domain; pfam04621"
                     /db_xref="CDD:428040"
     Region          302..385
                     /region_name="ETS"
                     /note="erythroblast transformation specific domain;
                     smart00413"
                     /db_xref="CDD:197710"
     CDS             1..445
                     /gene="ETV4"
                     /gene_synonym="E1A-F; E1AF; PEA3; PEAS3"
                     /coded_by="NM_001261438.3:97..1434"
                     /note="isoform 2 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS58553.1"
                     /db_xref="GeneID:2118"
                     /db_xref="HGNC:HGNC:3493"
                     /db_xref="MIM:600711"
ORIGIN      
        1 mdpgslppld sedlfqdlsh fqetwlaeaq vpdsdeqfvp dfhsenlafh spttrikkep
       61 qsprtdpals csrkpplpyh hgeqclyssa ydpprqiaik spapgalgqs plqpfpraeq
      121 rnflrssgts qphpghgylg ehssvfqqpl dichsftsqg ggreplpapy qhqlsepcpp
      181 ypqqsfkqey hdplyeqagq pavdqggvng hrypgagvvi kqeqtdfayd sdvtgcasmy
      241 lhtegfsgps pgdgamgygy ekplrpfpdd vcvvpekfeg dikqegvgaf regppyqrrg
      301 alqlwqflva llddptnahf iawtgrgmef kliepeevar lwgiqknrpa mnydklsrsl
      361 ryyyekgimq kvageryvyk fvcepealfs lafpdnqrpa lkaefdrpvs eedtvplshl
      421 despaylpel agpaqpfgpk ggysy
//
LOCUS       NP_001029058             119 aa            linear   PRI 17-APR-2023
DEFINITION  stromal cell-derived factor 1 isoform gamma precursor [Homo
            sapiens].
ACCESSION   NP_001029058
VERSION     NP_001029058.1
DBSOURCE    REFSEQ: accession NM_001033886.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 119)
  AUTHORS   Nagao M and Fukuda A.
  TITLE     The role of stromal BMP/CXCL12 signaling axis in serrated polyp
            development
  JOURNAL   J Gastroenterol 58 (4), 429-430 (2023)
   PUBMED   36899173
  REMARK    GeneRIF: The role of stromal BMP/CXCL12 signaling axis in serrated
            polyp development.
REFERENCE   2  (residues 1 to 119)
  AUTHORS   Kumar R, Milanesi S, Szpakowska M, Dotta L, Di Silvestre D, Trotta
            AM, Bello AM, Giacomelli M, Benedito M, Azevedo J, Pereira A,
            Cortesao E, Vacchini A, Castagna A, Pinelli M, Moratto D, Bonecchi
            R, Locati M, Scala S, Chevigne A, Borroni EM and Badolato R.
  TITLE     Reduced G protein signaling despite impaired internalization and
            beta-arrestin recruitment in patients carrying a CXCR4Leu317fsX3
            mutation causing WHIM syndrome
  JOURNAL   JCI Insight 8 (5), e145688 (2023)
   PUBMED   36883568
  REMARK    GeneRIF: Reduced G protein signaling despite impaired
            internalization and beta-arrestin recruitment in patients carrying
            a CXCR4Leu317fsX3 mutation causing WHIM syndrome.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 119)
  AUTHORS   Lima ERG, Queiroz MAF, Lima SS, Machado LFA, Cayres-Vallinoto IMV,
            Vallinoto ACR, Figueiredo FAPL, Guerreiro JF, Guimaraes Ishak MO
            and Ishak R.
  TITLE     CCR532 and SDF1 3'A: Gene Variants, Expression and Influence on
            Biological Markers for the Clinical Progression to AIDS among HIV-1
            Virus Controllers in a Mixed Population of the Amazon Region of
            Brazil
  JOURNAL   Int J Mol Sci 24 (5), 4958 (2023)
   PUBMED   36902388
  REMARK    GeneRIF: CCR532 and SDF1 3'A: Gene Variants, Expression and
            Influence on Biological Markers for the Clinical Progression to
            AIDS among HIV-1 Virus Controllers in a Mixed Population of the
            Amazon Region of Brazil.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 119)
  AUTHORS   Tiwari R, Ghildiyal S, Gaur P, Fatima T, Upadhyay S, Srivastva JK,
            Atam V and Dhole TN.
  TITLE     The relationship between MMP-2 rs243865, MMP-9 rs398242 and CXCL-12
            rs1801157 gene polymorphisms with Japanese encephalitis disease and
            disease outcome in North Indian population
  JOURNAL   J Vector Borne Dis 60 (1), 65-73 (2023)
   PUBMED   37026221
  REMARK    GeneRIF: The relationship between MMP-2 rs243865, MMP-9 rs398242
            and CXCL-12 rs1801157 gene polymorphisms with Japanese encephalitis
            disease and disease outcome in North Indian population.
REFERENCE   5  (residues 1 to 119)
  AUTHORS   Karin N.
  TITLE     The multiple faces of CXCL12 (SDF-1alpha) in the regulation of
            immunity during health and disease
  JOURNAL   J Leukoc Biol 88 (3), 463-473 (2010)
   PUBMED   20501749
  REMARK    GeneRIF: The current review explores the different biological
            properties of CXCL12 and discusses the implications of CXCL12-based
            therapies for autoimmunity and cancer diseases.
            Review article
REFERENCE   6  (residues 1 to 119)
  AUTHORS   Yu L, Cecil J, Peng SB, Schrementi J, Kovacevic S, Paul D, Su EW
            and Wang J.
  TITLE     Identification and expression of novel isoforms of human stromal
            cell-derived factor 1
  JOURNAL   Gene 374, 174-179 (2006)
   PUBMED   16626895
REFERENCE   7  (residues 1 to 119)
  AUTHORS   Yang D, Chen Q, Hoover DM, Staley P, Tucker KD, Lubkowski J and
            Oppenheim JJ.
  TITLE     Many chemokines including CCL20/MIP-3alpha display antimicrobial
            activity
  JOURNAL   J Leukoc Biol 74 (3), 448-455 (2003)
   PUBMED   12949249
  REMARK    GeneRIF: CXCL12 displays antimicrobial activity against E. coli and
            S. aureus.
REFERENCE   8  (residues 1 to 119)
  AUTHORS   Oberlin E, Amara A, Bachelerie F, Bessia C, Virelizier JL,
            Arenzana-Seisdedos F, Schwartz O, Heard JM, Clark-Lewis I, Legler
            DF, Loetscher M, Baggiolini M and Moser B.
  TITLE     The CXC chemokine SDF-1 is the ligand for LESTR/fusin and prevents
            infection by T-cell-line-adapted HIV-1
  JOURNAL   Nature 382 (6594), 833-835 (1996)
   PUBMED   8752281
  REMARK    Erratum:[Nature 1996 Nov 21;384(6606):288]
REFERENCE   9  (residues 1 to 119)
  AUTHORS   Bleul CC, Farzan M, Choe H, Parolin C, Clark-Lewis I, Sodroski J
            and Springer TA.
  TITLE     The lymphocyte chemoattractant SDF-1 is a ligand for LESTR/fusin
            and blocks HIV-1 entry
  JOURNAL   Nature 382 (6594), 829-833 (1996)
   PUBMED   8752280
REFERENCE   10 (residues 1 to 119)
  AUTHORS   Shirozu M, Nakano T, Inazawa J, Tashiro K, Tada H, Shinohara T and
            Honjo T.
  TITLE     Structure and chromosomal localization of the human stromal
            cell-derived factor 1 (SDF1) gene
  JOURNAL   Genomics 28 (3), 495-500 (1995)
   PUBMED   7490086
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL137026.21, BC031072.1,
            AY644456.1 and DQ345518.1.
            
            Summary: This antimicrobial gene encodes a stromal cell-derived
            alpha chemokine member of the intercrine family. The encoded
            protein functions as the ligand for the G-protein coupled receptor,
            chemokine (C-X-C motif) receptor 4, and plays a role in many
            diverse cellular functions, including embryogenesis, immune
            surveillance, inflammation response, tissue homeostasis, and tumor
            growth and metastasis. Mutations in this gene are associated with
            resistance to human immunodeficiency virus type 1 infections.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Sep 2014].
            
            Transcript Variant: This variant (3) contains an alternate exon,
            and differs in the 3' coding region and UTR compared to variant 1.
            The resulting protein (isoform gamma) is longer and has a distinct
            C-terminus compared to isoform alpha.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ345518.1, AY644456.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..119
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.21"
     Protein         1..119
                     /product="stromal cell-derived factor 1 isoform gamma
                     precursor"
                     /note="intercrine reduced in hepatomas; pre-B cell
                     growth-stimulating factor; stromal cell-derived factor 1;
                     chemokine (C-X-C motif) ligand 12"
                     /calculated_mol_wt=11566
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2158
     mat_peptide     22..119
                     /product="stromal cell-derived factor 1 isoform gamma"
                     /calculated_mol_wt=11566
     Region          27..88
                     /region_name="Chemokine_CXC"
                     /note="1 of 4 subgroup designations based on the
                     arrangement of the two N-terminal cysteine residues;
                     includes a number of secreted growth factors and
                     interferons involved in mitogenic, chemotactic, and
                     inflammatory activity; many members contain an RCxC
                     motif...; cd00273"
                     /db_xref="CDD:238171"
     Site            order(27..29,35,39..44,52..54,63..64,68..70,76,81)
                     /site_type="active"
                     /note="receptor binding site [active]"
                     /db_xref="CDD:238171"
     Site            27..29
                     /site_type="active"
                     /note="ELR motif [active]"
                     /db_xref="CDD:238171"
     Site            order(28,31,44..45,48..50,58..61,63,68..69,72,79,83,
                     86..87)
                     /site_type="other"
                     /note="tetramer interface [polypeptide binding]"
                     /db_xref="CDD:238171"
     Site            order(28,31,48,50,58,60,63,68..69)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:238171"
     Site            order(29..30,32)
                     /site_type="active"
                     /note="RCXC motif [active]"
                     /db_xref="CDD:238171"
     Site            order(31..37,39..44)
                     /site_type="active"
                     /note="N-loop [active]"
                     /db_xref="CDD:238171"
     Site            order(33..34,36,39,43,60,63,68,70)
                     /site_type="active"
                     /note="receptor binding cleft [active]"
                     /db_xref="CDD:238171"
     Site            order(40,42,75,78,80..83,85,88)
                     /site_type="other"
                     /note="glycosaminoglycan (GAG) binding site [chemical
                     binding]"
                     /db_xref="CDD:238171"
     Site            order(42,45,62,64,68..69)
                     /site_type="other"
                     /note="putative glycosaminoglycan (GAG) binding site
                     [chemical binding]"
                     /db_xref="CDD:238171"
     Site            order(44..45,49,59,61,72,79,83,86..87)
                     /site_type="other"
                     /note="dimer interface (I form) [polypeptide binding]"
                     /db_xref="CDD:238171"
     Site            52..54
                     /site_type="other"
                     /note="30s-loop"
                     /db_xref="CDD:238171"
     Site            52..54
                     /site_type="other"
                     /note="GPH motif"
                     /db_xref="CDD:238171"
     Site            64..66
                     /site_type="other"
                     /note="40s-loop"
                     /db_xref="CDD:238171"
     CDS             1..119
                     /gene="CXCL12"
                     /gene_synonym="IRH; PBSF; SCYB12; SDF1; TLSF; TPAR1"
                     /coded_by="NM_001033886.2:93..452"
                     /note="isoform gamma precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS31186.1"
                     /db_xref="GeneID:6387"
                     /db_xref="HGNC:HGNC:10672"
                     /db_xref="MIM:600835"
ORIGIN      
        1 mnakvvvvlv lvltalclsd gkpvslsyrc pcrffeshva ranvkhlkil ntpncalqiv
       61 arlknnnrqv cidpklkwiq eylekalnkg rreekvgkke kigkkkrqkk rkaaqkrkn
//
LOCUS       NP_001374637            1064 aa            linear   PRI 17-APR-2023
DEFINITION  activated CDC42 kinase 1 isoform 10 [Homo sapiens].
ACCESSION   NP_001374637
VERSION     NP_001374637.1
DBSOURCE    REFSEQ: accession NM_001387708.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1064)
  AUTHORS   Kan Y, Paung Y, Kim Y, Seeliger MA and Miller WT.
  TITLE     Biochemical Studies of Systemic Lupus Erythematosus-Associated
            Mutations in Nonreceptor Tyrosine Kinases Ack1 and Brk
  JOURNAL   Biochemistry 62 (6), 1124-1137 (2023)
   PUBMED   36854171
  REMARK    GeneRIF: Biochemical Studies of Systemic Lupus
            Erythematosus-Associated Mutations in Nonreceptor Tyrosine Kinases
            Ack1 and Brk.
REFERENCE   2  (residues 1 to 1064)
  AUTHORS   Kan Y, Paung Y, Seeliger MA and Miller WT.
  TITLE     Domain Architecture of the Nonreceptor Tyrosine Kinase Ack1
  JOURNAL   Cells 12 (6), 900 (2023)
   PUBMED   36980241
  REMARK    GeneRIF: Domain Architecture of the Nonreceptor Tyrosine Kinase
            Ack1.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1064)
  AUTHORS   Kan Y and Miller WT.
  TITLE     Activity of the nonreceptor tyrosine kinase Ack1 is regulated by
            tyrosine phosphorylation of its Mig6 homology region
  JOURNAL   FEBS Lett 596 (21), 2808-2820 (2022)
   PUBMED   36178070
  REMARK    GeneRIF: Activity of the nonreceptor tyrosine kinase Ack1 is
            regulated by tyrosine phosphorylation of its Mig6 homology region.
REFERENCE   4  (residues 1 to 1064)
  AUTHORS   Clayton NS, Fox M, Vicente-Garcia JJ, Schroeder CM, Littlewood TD,
            Wilde JI, Krishnan K, Brown MJB, Crafter C, Mott HR and Owen D.
  TITLE     Assembly of nuclear dimers of PI3K regulatory subunits is regulated
            by the Cdc42-activated tyrosine kinase ACK
  JOURNAL   J Biol Chem 298 (6), 101916 (2022)
   PUBMED   35429500
  REMARK    GeneRIF: Assembly of nuclear dimers of PI3K regulatory subunits is
            regulated by the Cdc42-activated tyrosine kinase ACK.
REFERENCE   5  (residues 1 to 1064)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   6  (residues 1 to 1064)
  AUTHORS   Kato J, Kaziro Y and Satoh T.
  TITLE     Activation of the guanine nucleotide exchange factor Dbl following
            ACK1-dependent tyrosine phosphorylation
  JOURNAL   Biochem Biophys Res Commun 268 (1), 141-147 (2000)
   PUBMED   10652228
REFERENCE   7  (residues 1 to 1064)
  AUTHORS   Eisenmann KM, McCarthy JB, Simpson MA, Keely PJ, Guan JL, Tachibana
            K, Lim L, Manser E, Furcht LT and Iida J.
  TITLE     Melanoma chondroitin sulphate proteoglycan regulates cell spreading
            through Cdc42, Ack-1 and p130cas
  JOURNAL   Nat Cell Biol 1 (8), 507-513 (1999)
   PUBMED   10587647
REFERENCE   8  (residues 1 to 1064)
  AUTHORS   Mott HR, Owen D, Nietlispach D, Lowe PN, Manser E, Lim L and Laue
            ED.
  TITLE     Structure of the small G protein Cdc42 bound to the GTPase-binding
            domain of ACK
  JOURNAL   Nature 399 (6734), 384-388 (1999)
   PUBMED   10360579
REFERENCE   9  (residues 1 to 1064)
  AUTHORS   Satoh T, Kato J, Nishida K and Kaziro Y.
  TITLE     Tyrosine phosphorylation of ACK in response to temperature
            shift-down, hyperosmotic shock, and epidermal growth factor
            stimulation
  JOURNAL   FEBS Lett 386 (2-3), 230-234 (1996)
   PUBMED   8647288
REFERENCE   10 (residues 1 to 1064)
  AUTHORS   Manser E, Leung T, Salihuddin H, Tan L and Lim L.
  TITLE     A non-receptor tyrosine kinase that inhibits the GTPase activity of
            p21cdc42
  JOURNAL   Nature 363 (6427), 364-367 (1993)
   PUBMED   8497321
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124944.8.
            
            Summary: This gene encodes a tyrosine kinase that binds Cdc42Hs in
            its GTP-bound form and inhibits both the intrinsic and
            GTPase-activating protein (GAP)-stimulated GTPase activity of
            Cdc42Hs. This binding is mediated by a unique sequence of 47 amino
            acids C-terminal to an SH3 domain. The protein may be involved in a
            regulatory mechanism that sustains the GTP-bound active form of
            Cdc42Hs and which is directly linked to a tyrosine phosphorylation
            signal transduction pathway. Several alternatively spliced
            transcript variants have been identified from this gene, but the
            full-length nature of only two transcript variants has been
            determined. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1017698.1,
                                           SRR14038196.2981426.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1064
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q29"
     Protein         1..1064
                     /product="activated CDC42 kinase 1 isoform 10"
                     /EC_number="2.7.11.1"
                     /EC_number="2.7.10.2"
                     /note="activated p21cdc42Hs kinase; activated
                     Cdc42-associated kinase 1; tyrosine kinase non-receptor
                     protein 2"
                     /calculated_mol_wt=117194
     Region          30..91
                     /region_name="SAM_TNK-like"
                     /note="SAM domain of TNK(ACK)-like non-receptor
                     tyrosine-protein kinases; cd09539"
                     /db_xref="CDD:188938"
     Region          154..411
                     /region_name="PTKc_Ack_like"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Activated Cdc42-associated kinase; cd05040"
                     /db_xref="CDD:270636"
     Site            order(156..158,164,180,182,229..232,236,276,280..281,283,
                     294,313..317,326,360)
                     /site_type="active"
                     /db_xref="CDD:270636"
     Site            order(156..158,164,180,182,229..232,236,276,280..281,283,
                     294)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270636"
     Site            order(276,280,313..317,326,360)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270636"
     Site            order(293..303,305..319)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270636"
     Region          419..468
                     /region_name="SH3_9"
                     /note="Variant SH3 domain; pfam14604"
                     /db_xref="CDD:434066"
     Site            order(421,423,428,446,448,463,465..466)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212690"
     Region          473..538
                     /region_name="GTPase_binding"
                     /note="GTPase binding; pfam09027"
                     /db_xref="CDD:430374"
     Region          <567..873
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          798..864
                     /region_name="Inhibitor_Mig-6"
                     /note="EGFR receptor inhibitor Mig-6; pfam11555"
                     /db_xref="CDD:431932"
     Region          985..1028
                     /region_name="UBA_ACK1"
                     /note="UBA domain found in activated Cdc42 kinase 1 (ACK1)
                     and similar proteins; cd14274"
                     /db_xref="CDD:270460"
     Region          1015..1054
                     /region_name="UBA_TNK1"
                     /note="UBA domain found in non-receptor tyrosine-protein
                     kinase TNK1 and similar proteins; cd14328"
                     /db_xref="CDD:270513"
     CDS             1..1064
                     /gene="TNK2"
                     /gene_synonym="ACK; ACK-1; ACK1; p21cdc42Hs"
                     /coded_by="NM_001387708.1:50..3244"
                     /note="isoform 10 is encoded by transcript variant 11"
                     /db_xref="GeneID:10188"
                     /db_xref="HGNC:HGNC:19297"
                     /db_xref="MIM:606994"
ORIGIN      
        1 mgersayqrl aggeegpqrl gggrmqpeeg tgwllellse vqlqqyflrl rddlnvtrls
       61 hfeyvknedl ekigmgrpgq rrlweavkrr kalckrkswm skvfsgkrle aefpphhsqs
      121 tfrktspapg gpagegplqs ltcligekdl rlleklgdgs fgvvrrgewd apsgktvsva
      181 vkclkpdvls qpeamddfir evnamhsldh rnlirlygvv ltppmkmvte laplgslldr
      241 lrkhqghfll gtlsryavqv aegmgylesk rfihrdlaar nlllatrdlv kigdfglmra
      301 lpqnddhyvm qehrkvpfaw capeslktrt fshasdtwmf gvtlwemfty gqepwiglng
      361 sqilhkidke gerlprpedc pqdiynvmvq cwahkpedrp tfvalrdfll eaqptdmral
      421 qdfeepdklh iqmndvitvi egraenywwr gqntrtlcvg pfprnvvtsv aglsaqdisq
      481 plqnsfihtg hgdsdprhcw gfpdridely lgnpmdppdl lsvelstsrp pqhlggvkkp
      541 tydpvsedqd plssdfkrlg lrkpglprgl wlakpsarvp gtkasrgsga evtlidfgee
      601 pvvpalrpca pslaqlamda cslldetppq sptralprpl hptpvvdwda rplppppayd
      661 dvaqdeddfe icsinstlvg agvpagpsqg qtnyafvpeq arppppledn lflppqgggk
      721 ppssaqtaei fqalqqecmr qlqapagspa pspspggddk pqvpprvpip prptrphvql
      781 spappgeeet sqwpgpaspp rvppreplsp qgsrtpsplv ppgssplppr lssspgktmp
      841 ttqsfasdpk yatpqviqap gpragpcilp ivrdgkkvss thyyllperp syleryqrfl
      901 reaqspeept plpvplllpp pstpapaapt atvrpmpqaa ldpkanfstn nsnpgarppp
      961 pratarlpqr gcpgdgpeag rpadkiqmlq amvhgvttee cqaalqchgw svqraaqylk
     1021 veqlfglglr prgechkvle mfdwnleqag chllgswgpa hhkr
//
LOCUS       NP_001308525             550 aa            linear   PRI 02-DEC-2022
DEFINITION  DET1 homolog isoform 2 [Homo sapiens].
ACCESSION   NP_001308525
VERSION     NP_001308525.1
DBSOURCE    REFSEQ: accession NM_001321596.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 550)
  AUTHORS   Xie Y, Cao Z, Wong EW, Guan Y, Ma W, Zhang JQ, Walczak EG, Murphy
            D, Ran L, Sirota I, Wang S, Shukla S, Gao D, Knott SR, Chang K, Leu
            J, Wongvipat J, Antonescu CR, Hannon G, Chi P and Chen Y.
  TITLE     COP1/DET1/ETS axis regulates ERK transcriptome and sensitivity to
            MAPK inhibitors
  JOURNAL   J Clin Invest 128 (4), 1442-1457 (2018)
   PUBMED   29360641
  REMARK    GeneRIF: COP1/DET1/ETS axis regulates ERK transcriptome and
            sensitivity to MAPK inhibitors.
REFERENCE   2  (residues 1 to 550)
  AUTHORS   Pick E, Lau OS, Tsuge T, Menon S, Tong Y, Dohmae N, Plafker SM,
            Deng XW and Wei N.
  TITLE     Mammalian DET1 regulates Cul4A activity and forms stable complexes
            with E2 ubiquitin-conjugating enzymes
  JOURNAL   Mol Cell Biol 27 (13), 4708-4719 (2007)
   PUBMED   17452440
  REMARK    GeneRIF: These findings demonstrate that the conserved DET1 complex
            modulates Cul4A functions by a novel mechanism.
REFERENCE   3  (residues 1 to 550)
  AUTHORS   Jin J, Arias EE, Chen J, Harper JW and Walter JC.
  TITLE     A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2,
            which is required for S phase destruction of the replication factor
            Cdt1
  JOURNAL   Mol Cell 23 (5), 709-721 (2006)
   PUBMED   16949367
REFERENCE   4  (residues 1 to 550)
  AUTHORS   Wertz IE, O'Rourke KM, Zhang Z, Dornan D, Arnott D, Deshaies RJ and
            Dixit VM.
  TITLE     Human De-etiolated-1 regulates c-Jun by assembling a CUL4A
            ubiquitin ligase
  JOURNAL   Science 303 (5662), 1371-1374 (2004)
   PUBMED   14739464
  REMARK    GeneRIF: promotes ubiquitination and degradation of c-Jun by
            assembling a multisubunit ubiquitin ligase containing DNA Damage
            Binding Protein-1 (DDB1), cullin 4A (CUL4A), Regulator of Cullins-1
            (ROC1), and constitutively photomorphogenic-1
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC013489.17.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.2847.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..550
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     Protein         1..550
                     /product="DET1 homolog isoform 2"
                     /note="DET1 homolog; de-etiolated homolog 1; DET1, COP1
                     ubiquitin ligase partner"
                     /calculated_mol_wt=63718
     Region          142..547
                     /region_name="Det1"
                     /note="De-etiolated protein 1 Det1; pfam09737"
                     /db_xref="CDD:430788"
     CDS             1..550
                     /gene="DET1"
                     /coded_by="NM_001321596.1:207..1859"
                     /note="isoform 2 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS45344.1"
                     /db_xref="GeneID:55070"
                     /db_xref="HGNC:HGNC:25477"
                     /db_xref="MIM:608727"
ORIGIN      
        1 mdhhvstikp rriqnqnvih rlerrrissg kagthwhqvr vfhqnvfpnf tvvnvekppc
       61 flrkfspdgr yfiafssdqt sleiyeyqgc qaaedllqgy egeilsngnd qrsvnirgrl
      121 ferffvllhi tnvaangehl nrecslftdd crcvivgsaa ylpdephppf fevyrnsesv
      181 tpnprspled yslhiidlht grlcdtrtfk cdkvvlshnq glylyknila ilsvqqqtih
      241 vfqvtpegtf idvrtigrfc yeddlltvsa vfpevqrdsq tgmanpfrdp finslkhrll
      301 vylwrraeqd gsamakrrff qyfdqlrqlr mwkmqllden hlfikytsed vvtlrvtdps
      361 qasffvvynm vtteviavfe ntsdellelf enfcdlfrna tlhsevqfpc sassnnfarq
      421 iqrrfkdtii nakygghtea vrrllgqlpi saqsysgspy ldlslfsydd kwvsvmerpk
      481 tcgdhpirfy ardsgllkfe iqagllgrpi nhtvrrlvaf tfhpfepfai svqrtnaeyv
      541 vnfhmrhcct
//
LOCUS       NP_004031                196 aa            linear   PRI 17-DEC-2022
DEFINITION  rho-related GTP-binding protein RhoB [Homo sapiens].
ACCESSION   NP_004031
VERSION     NP_004031.1
DBSOURCE    REFSEQ: accession NM_004040.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 196)
  AUTHORS   Xu L, Li YH, Zhao WJ, Sang YF, Chen JJ, Li DJ and Du MR.
  TITLE     RhoB Promotes Endometrial Stromal Cells Decidualization Via
            Semaphorin3A/PlexinA4 Signaling in Early Pregnancy
  JOURNAL   Endocrinology 163 (11) (2022)
   PUBMED   36047434
  REMARK    GeneRIF: RhoB Promotes Endometrial Stromal Cells Decidualization
            Via Semaphorin3A/PlexinA4 Signaling in Early Pregnancy.
REFERENCE   2  (residues 1 to 196)
  AUTHORS   Yang J, Pei G, Sun X, Xiao Y, Miao C, Zhou L, Wang B, Yang L, Yu M,
            Zhang ZS, Keller ET, Yao Z and Wang Q.
  TITLE     RhoB affects colitis through modulating cell signaling and
            intestinal microbiome
  JOURNAL   Microbiome 10 (1), 149 (2022)
   PUBMED   36114582
  REMARK    GeneRIF: RhoB affects colitis through modulating cell signaling and
            intestinal microbiome.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 196)
  AUTHORS   Luu AP, Yao Z, Ramachandran S, Azzopardi SA, Miles LA, Schneider
            WM, Hoffmann HH, Bozzacco L, Garcia G Jr, Gong D, Damoiseaux R,
            Tang H, Morizono K, Rudin CM, Sun R, Arumugaswami V, Poirier JT,
            MacDonald MR, Rice CM and Li MMH.
  TITLE     A CRISPR Activation Screen Identifies an Atypical Rho GTPase That
            Enhances Zika Viral Entry
  JOURNAL   Viruses 13 (11), 2113 (2021)
   PUBMED   34834920
  REMARK    GeneRIF: A CRISPR Activation Screen Identifies an Atypical Rho
            GTPase That Enhances Zika Viral Entry.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 196)
  AUTHORS   Zhang D, Wang Y, Zeng S, Zhang M, Zhang X, Wang Y, Zhang Z, Wang X
            and Hu X.
  TITLE     Integrated Analysis of Prognostic Genes Associated With
            Ischemia-Reperfusion Injury in Renal Transplantation
  JOURNAL   Front Immunol 12, 747020 (2021)
   PUBMED   34557203
  REMARK    GeneRIF: Integrated Analysis of Prognostic Genes Associated With
            Ischemia-Reperfusion Injury in Renal Transplantation.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 196)
  AUTHORS   Nishiyama K, Maekawa M, Nakagita T, Nakayama J, Kiyoi T, Chosei M,
            Murakami A, Kamei Y, Takeda H, Takada Y and Higashiyama S.
  TITLE     CNKSR1 serves as a scaffold to activate an EGFR phosphatase via
            exclusive interaction with RhoB-GTP
  JOURNAL   Life Sci Alliance 4 (9), e202101095 (2021)
   PUBMED   34187934
  REMARK    GeneRIF: CNKSR1 serves as a scaffold to activate an EGFR
            phosphatase via exclusive interaction with RhoB-GTP.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 196)
  AUTHORS   Robertson D, Paterson HF, Adamson P, Hall A and Monaghan P.
  TITLE     Ultrastructural localization of ras-related proteins using
            epitope-tagged plasmids
  JOURNAL   J Histochem Cytochem 43 (5), 471-480 (1995)
   PUBMED   7537292
REFERENCE   7  (residues 1 to 196)
  AUTHORS   Adamson P, Marshall CJ, Hall A and Tilbrook PA.
  TITLE     Post-translational modifications of p21rho proteins
  JOURNAL   J Biol Chem 267 (28), 20033-20038 (1992)
   PUBMED   1400319
REFERENCE   8  (residues 1 to 196)
  AUTHORS   Cannizzaro LA, Madaule P, Hecht F, Axel R, Croce CM and Huebner K.
  TITLE     Chromosome localization of human ARH genes, a ras-related gene
            family
  JOURNAL   Genomics 6 (2), 197-203 (1990)
   PUBMED   2407642
REFERENCE   9  (residues 1 to 196)
  AUTHORS   Chardin P, Madaule P and Tavitian A.
  TITLE     Coding sequence of human rho cDNAs clone 6 and clone 9
  JOURNAL   Nucleic Acids Res 16 (6), 2717 (1988)
   PUBMED   3283705
REFERENCE   10 (residues 1 to 196)
  AUTHORS   Madaule,P. and Axel,R.
  TITLE     A novel ras-related gene family
  JOURNAL   Cell 41 (1), 31-40 (1985)
   PUBMED   3888408
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK310813.1, AK124398.1, AC023137.5 and CA443347.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: SRR7346977.918421.1, BC066954.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000272233.6/ ENSP00000272233.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..196
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24.1"
     Protein         1..196
                     /product="rho-related GTP-binding protein RhoB"
                     /note="oncogene RHO H6; Aplysia RAS-related homolog 6; h6;
                     rho cDNA clone 6; ras homolog gene family, member B"
                     /calculated_mol_wt=21992
     Region          5..179
                     /region_name="RhoA_like"
                     /note="Ras homology family A (RhoA)-like includes RhoA,
                     RhoB and RhoC; cd01870"
                     /db_xref="CDD:206662"
     Site            order(5,34,37..38,41,43,45,54,58..59,61..63,66,68,72)
                     /site_type="other"
                     /note="GEF (guanine nucleotide exchange factor)
                     interaction site [polypeptide binding]"
                     /db_xref="CDD:206662"
     Site            12..19
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206662"
     Site            order(15..20,34..35,37,59..60,118,120,161..162)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206662"
     Site            order(23,25..29,42..43,45..47,52..54,163..164,168..169,
                     172)
                     /site_type="active"
                     /note="PKN/PRK1 effector interaction site [active]"
                     /db_xref="CDD:206662"
     Site            order(34,36,38..39,63..66,69,72,94)
                     /site_type="other"
                     /note="GAP (GTPase-activating protein) interaction site
                     [polypeptide binding]"
                     /db_xref="CDD:206662"
     Region          34..42
                     /region_name="Effector region. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P62745.1)"
     Site            34..42
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206662"
     Site            34
                     /site_type="glycosylation"
                     /note="O-linked (GlcNAc) tyrosine, by Photorhabdus
                     PAU_02230. /evidence=ECO:0000269|PubMed:24141704;
                     propagated from UniProtKB/Swiss-Prot (P62745.1)"
     Site            order(37..38,61,66,68..69,71..72,75,105..106,108)
                     /site_type="other"
                     /note="GDI (guanine nucleotide dissociation inhibitor)
                     interaction site [polypeptide binding]"
                     /db_xref="CDD:206662"
     Site            37
                     /site_type="glycosylation"
                     /note="(Microbial infection) O-linked (Glc) threonine, by
                     C.difficile toxins TcdA and TcdB.
                     /evidence=ECO:0000269|PubMed:24905543; propagated from
                     UniProtKB/Swiss-Prot (P62745.1)"
     Site            37
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206662"
     Site            order(39,65..69,72,97,101,105)
                     /site_type="active"
                     /note="Mdia effector interaction site [active]"
                     /db_xref="CDD:206662"
     Site            order(39..40,65..66,68..69,72)
                     /site_type="other"
                     /note="Rho kinase (ROCK) effector interaction site
                     [polypeptide binding]"
                     /db_xref="CDD:206662"
     Site            59..62
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206662"
     Site            62..79
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206662"
     Site            117..120
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206662"
     Site            154
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P62746; propagated from
                     UniProtKB/Swiss-Prot (P62745.1)"
     Site            160..162
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206662"
     Site            193
                     /site_type="methylation"
                     /note="Cysteine methyl ester.
                     /evidence=ECO:0000269|PubMed:1400319; propagated from
                     UniProtKB/Swiss-Prot (P62745.1)"
     CDS             1..196
                     /gene="RHOB"
                     /gene_synonym="ARH6; ARHB; MST081; MSTP081; RHOH6"
                     /coded_by="NM_004040.4:393..983"
                     /db_xref="CCDS:CCDS1699.1"
                     /db_xref="GeneID:388"
                     /db_xref="HGNC:HGNC:668"
                     /db_xref="MIM:165370"
ORIGIN      
        1 maairkklvv vgdgacgktc llivfskdef pevyvptvfe nyvadievdg kqvelalwdt
       61 agqedydrlr plsypdtdvi lmcfsvdspd slenipekwv pevkhfcpnv piilvankkd
      121 lrsdehvrte larmkqepvr tddgramavr iqaydylecs aktkegvrev fetatraalq
      181 krygsqngci ncckvl
//
LOCUS       NP_001165911             347 aa            linear   PRI 18-DEC-2022
DEFINITION  uridylate-specific endoribonuclease isoform 3 precursor [Homo
            sapiens].
ACCESSION   NP_001165911
VERSION     NP_001165911.1
DBSOURCE    REFSEQ: accession NM_001172440.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 347)
  AUTHORS   Lee HC, Fu CY, Lin CY, Hu JR, Huang TY, Lo KY, Tsai HY, Sheu JC and
            Tsai HJ.
  TITLE     Poly(U)-specific endoribonuclease ENDOU promotes translation of
            human CHOP mRNA by releasing uORF element-mediated inhibition
  JOURNAL   EMBO J 40 (11), e104123 (2021)
   PUBMED   33511665
  REMARK    GeneRIF: Poly(U)-specific endoribonuclease ENDOU promotes
            translation of human CHOP mRNA by releasing uORF element-mediated
            inhibition.
REFERENCE   2  (residues 1 to 347)
  AUTHORS   Jing H, Ackerman WE 4th, Zhao G, El Helou Y, Buhimschi CS and
            Buhimschi IA.
  TITLE     Connecting the dots on vertical transmission of SARS-CoV-2 using
            protein-protein interaction network analysis - Potential roles of
            placental ACE2 and ENDOU
  JOURNAL   Placenta 104, 16-19 (2021)
   PUBMED   33197855
  REMARK    GeneRIF: Connecting the dots on vertical transmission of SARS-CoV-2
            using protein-protein interaction network analysis - Potential
            roles of placental ACE2 and ENDOU.
REFERENCE   3  (residues 1 to 347)
  AUTHORS   Laneve P, Gioia U, Ragno R, Altieri F, Di Franco C, Santini T,
            Arceci M, Bozzoni I and Caffarelli E.
  TITLE     The tumor marker human placental protein 11 is an endoribonuclease
  JOURNAL   J Biol Chem 283 (50), 34712-34719 (2008)
   PUBMED   18936097
  REMARK    GeneRIF: human placental protein 11 is an endoribonuclease
REFERENCE   4  (residues 1 to 347)
  AUTHORS   Gioia U, Laneve P, Dlakic M, Arceci M, Bozzoni I and Caffarelli E.
  TITLE     Functional characterization of XendoU, the endoribonuclease
            involved in small nucleolar RNA biosynthesis
  JOURNAL   J Biol Chem 280 (19), 18996-19002 (2005)
   PUBMED   15755742
REFERENCE   5  (residues 1 to 347)
  AUTHORS   Jenne D.
  TITLE     Homology of placental protein 11 and pea seed albumin 2 with
            vitronectin
  JOURNAL   Biochem Biophys Res Commun 176 (3), 1000-1006 (1991)
   PUBMED   1710108
REFERENCE   6  (residues 1 to 347)
  AUTHORS   Grundmann U, Romisch J, Siebold B, Bohn H and Amann E.
  TITLE     Cloning and expression of a cDNA encoding human placental protein
            11, a putative serine protease with diagnostic significance as a
            tumor marker
  JOURNAL   DNA Cell Biol 9 (4), 243-250 (1990)
   PUBMED   2350438
REFERENCE   7  (residues 1 to 347)
  AUTHORS   Inaba,N., Ishige,H., Ijichi,M., Satoh,N., Ohkawa,R., Sekiya,S.,
            Shirotake,S., Takamizawa,H., Renk,T. and Bohn,H.
  TITLE     Immunohistochemical detection of pregnancy-specific protein (SP1)
            and placenta-specific tissue proteins (PP5, PP10, PP11 and PP12) in
            ovarian adenocarcinomas
  JOURNAL   Oncodev Biol Med 3 (5-6), 379-389 (1982)
   PUBMED   6755403
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC381238.1, AK300169.1,
            AC004241.2 and AI039727.1.
            
            Summary: This gene encodes a protein with endoribonuclease activity
            that binds polyuridine-enriched single-stranded RNA. This gene was
            initially characterized based on its high expression in placenta
            but was mischaracterized as a serine protease. In mouse, this gene
            promotes tolerance to self-antigens by regulating B cell
            activation-induced cell death (AICD). The protein may be useful as
            a tumor marker. Multiple alternatively spliced transcript variants
            encoding distinct protein isoforms have been found for this gene.
            [provided by RefSeq, Jul 2020].
            
            Transcript Variant: This variant (3) lacks two alternate in-frame
            exons, compared to variant 1. The resulting protein (isoform 3) has
            a shorter N-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK300169.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149398, SAMEA2156670
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..347
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.11"
     Protein         1..347
                     /product="uridylate-specific endoribonuclease isoform 3
                     precursor"
                     /note="26 serine protease; 22 serine protease; placental
                     protein 11; poly(U)-specific endoribonuclease; protein
                     endoU; uridylate-specific endoribonuclease; endonuclease,
                     polyU-specific"
                     /calculated_mol_wt=37757
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1890
     mat_peptide     19..347
                     /product="uridylate-specific endoribonuclease isoform 3"
                     /calculated_mol_wt=37757
     Region          23..65
                     /region_name="SO"
                     /note="Somatomedin B -like domains; smart00201"
                     /db_xref="CDD:197571"
     Region          77..342
                     /region_name="XendoU"
                     /note="Endoribonuclease XendoU; pfam09412"
                     /db_xref="CDD:430594"
     CDS             1..347
                     /gene="ENDOU"
                     /gene_synonym="P11; PP11; PRSS26"
                     /coded_by="NM_001172440.2:78..1121"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS53784.1"
                     /db_xref="GeneID:8909"
                     /db_xref="HGNC:HGNC:14369"
                     /db_xref="MIM:606720"
ORIGIN      
        1 mracislvla vlcglawadl ysaptscqgr cyeafdkhhq chcnarcqef gncckdfesl
       61 csdhevshss daitkeeiqs isekiyradt nkaqkedivl nsqncispse trnqvdrcpk
      121 plftyvnekl fskptyaafi nllnnyqrat ghgehfsaqe laeqdaflre imktavmkel
      181 ysflhhqnry gseqefvddl knmwfglysr gneegdssgf ehvfsgevkk gkvtgfhnwi
      241 rfyleekegl vdyyshiydg pwdsypdvla mqfnwdgyyk evgsafigss pefefalysl
      301 cfiarpgkvc qlslggypla vrtytwdkst ygngkkyiat ayivsst
//
LOCUS       NP_001340720             749 aa            linear   PRI 18-DEC-2022
DEFINITION  amyloid-beta A4 precursor protein-binding family A member 2 isoform
            a [Homo sapiens].
ACCESSION   NP_001340720
VERSION     NP_001340720.1
DBSOURCE    REFSEQ: accession NM_001353791.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 749)
  AUTHORS   Sugis E, Dauvillier J, Leontjeva A, Adler P, Hindie V, Moncion T,
            Collura V, Daudin R, Loe-Mie Y, Herault Y, Lambert JC, Hermjakob H,
            Pupko T, Rain JC, Xenarios I, Vilo J, Simonneau M and Peterson H.
  TITLE     HENA, heterogeneous network-based data set for Alzheimer's disease
  JOURNAL   Sci Data 6 (1), 151 (2019)
   PUBMED   31413325
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 749)
  AUTHORS   Zhou Z, Blandino P, Yuan Q, Shen PH, Hodgkinson CA, Virkkunen M,
            Watson SJ, Akil H and Goldman D.
  TITLE     Exploratory locomotion, a predictor of addiction vulnerability, is
            oligogenic in rats selected for this phenotype
  JOURNAL   Proc Natl Acad Sci U S A 116 (26), 13107-13115 (2019)
   PUBMED   31182603
  REMARK    GeneRIF: Using exome sequencing and QTL analysis, study identified
            seven genome-wide significant loci accounting for approximately
            one-third of total variance and two-thirds of genetic variance in
            exploratory locomotion (EL), a behavioral phenotype correlated with
            vulnerability to addiction, and found convergent evidence for a
            role of APBA2 in humans.
REFERENCE   3  (residues 1 to 749)
  AUTHORS   Lin AY, Henry S, Reissner C, Neupert C, Kenny C, Missler M, Beffert
            U and Ho A.
  TITLE     A rare autism-associated MINT2/APBA2 mutation disrupts neurexin
            trafficking and synaptic function
  JOURNAL   Sci Rep 9 (1), 6024 (2019)
   PUBMED   30988517
  REMARK    GeneRIF: A rare autism-associated MINT2/APBA2 mutation disrupts
            neurexin trafficking and synaptic function.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 749)
  AUTHORS   Jensen TMT, Albertsen L, Bartling CRO, Haugaard-Kedstrom LM and
            Stromgaard K.
  TITLE     Probing the Mint2 Protein-Protein Interaction Network Relevant to
            the Pathophysiology of Alzheimer's Disease
  JOURNAL   Chembiochem (2018) In press
   PUBMED   29578633
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   5  (residues 1 to 749)
  AUTHORS   Miller CC, McLoughlin DM, Lau KF, Tennant ME and Rogelj B.
  TITLE     The X11 proteins, Abeta production and Alzheimer's disease
  JOURNAL   Trends Neurosci 29 (5), 280-285 (2006)
   PUBMED   16545469
  REMARK    Review article
REFERENCE   6  (residues 1 to 749)
  AUTHORS   Borg JP, Yang Y, De Taddeo-Borg M, Margolis B and Turner RS.
  TITLE     The X11alpha protein slows cellular amyloid precursor protein
            processing and reduces Abeta40 and Abeta42 secretion
  JOURNAL   J Biol Chem 273 (24), 14761-14766 (1998)
   PUBMED   9614075
REFERENCE   7  (residues 1 to 749)
  AUTHORS   Blanco G, Irving NG, Brown SD, Miller CC and McLoughlin DM.
  TITLE     Mapping of the human and murine X11-like genes (APBA2 and apba2),
            the murine Fe65 gene (Apbb1), and the human Fe65-like gene (APBB2):
            genes encoding phosphotyrosine-binding domain proteins that
            interact with the Alzheimer's disease amyloid precursor protein
  JOURNAL   Mamm Genome 9 (6), 473-475 (1998)
   PUBMED   9585438
REFERENCE   8  (residues 1 to 749)
  AUTHORS   Okamoto M and Sudhof TC.
  TITLE     Mints, Munc18-interacting proteins in synaptic vesicle exocytosis
  JOURNAL   J Biol Chem 272 (50), 31459-31464 (1997)
   PUBMED   9395480
REFERENCE   9  (residues 1 to 749)
  AUTHORS   McLoughlin DM and Miller CC.
  TITLE     The intracellular cytoplasmic domain of the Alzheimer's disease
            amyloid precursor protein interacts with phosphotyrosine-binding
            domain proteins in the yeast two-hybrid system
  JOURNAL   FEBS Lett 397 (2-3), 197-200 (1996)
   PUBMED   8955346
REFERENCE   10 (residues 1 to 749)
  AUTHORS   van der Geer P and Pawson T.
  TITLE     The PTB domain: a new protein module implicated in signal
            transduction
  JOURNAL   Trends Biochem Sci 20 (7), 277-280 (1995)
   PUBMED   7545337
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC127522.7, AC024474.8 and
            AF047348.1.
            
            Summary: The protein encoded by this gene is a member of the X11
            protein family. It is a neuronal adapter protein that interacts
            with the Alzheimer's disease amyloid precursor protein (APP). It
            stabilizes APP and inhibits production of proteolytic APP fragments
            including the A beta peptide that is deposited in the brains of
            Alzheimer's disease patients. This gene product is believed to be
            involved in signal transduction processes. It is also regarded as a
            putative vesicular trafficking protein in the brain that can form a
            complex with the potential to couple synaptic vesicle exocytosis to
            neuronal cell adhesion. [provided by RefSeq, Jul 2017].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.166767.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665, SAMEA2157437
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..749
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.1"
     Protein         1..749
                     /product="amyloid-beta A4 precursor protein-binding family
                     A member 2 isoform a"
                     /note="amyloid beta (A4) precursor protein-binding, family
                     A, member 2 (X11-like);
                     phosphotyrosine-binding/-interacting domain (PTB)-bearing
                     protein; X11-like protein; neuron-specific X11L protein;
                     adapter protein X11beta; neuronal munc18-1-interacting
                     protein 2; mint-2"
                     /calculated_mol_wt=82381
     Region          1..94
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99767.3)"
     Site            11
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99767.3)"
     Region          130..220
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99767.3)"
     Region          185..270
                     /region_name="STXBP1-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99767.3)"
     Site            208
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99767.3)"
     Region          238..344
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99767.3)"
     Region          363..535
                     /region_name="PTB_X11"
                     /note="X11-like Phosphotyrosine-binding (PTB) domain;
                     cd01208"
                     /db_xref="CDD:269919"
     Site            order(375,465,505)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269919"
     Site            order(393,454,457..462,513,524,527)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:269919"
     Region          568..651
                     /region_name="PDZ"
                     /note="PDZ domain (Also known as DHR or GLGF); pfam00595"
                     /db_xref="CDD:395476"
     Site            order(578..581,583,634..635,638..639)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          657..730
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(670..673,675,716..717,720..721)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     CDS             1..749
                     /gene="APBA2"
                     /gene_synonym="D15S1518E; HsT16821; LIN-10; MGC:14091;
                     MINT2; X11-BETA; X11L"
                     /coded_by="NM_001353791.2:346..2595"
                     /note="isoform a is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS10022.1"
                     /db_xref="GeneID:321"
                     /db_xref="HGNC:HGNC:579"
                     /db_xref="MIM:602712"
ORIGIN      
        1 mahrklesvg sgmldhrvrp gpvphsqepe sedmelpleg yvpeglelaa lrpespapee
       61 qechnhspdg dsssdyvnnt seeedydegl peeeegityy irycpeddsy legmdcngee
      121 ylahsahpvd tdecqeavee wtdsagphph gheaegsqdy pdgqlpiped epsvleahdq
      181 eedghycask egyqdyypee angntgaspy rlrrgdgdle dqeedidqiv aeikmslsmt
      241 sitsaseasp ehgpepgped sveacppika scspsrhear pkslnllpea khpgdpqrgf
      301 kpktrtpeer lkwpheqvcn gleqprkqqr sdlngpvdnn nipetkkvas fpsfvavpgp
      361 cepedlidgi ifaanylgst qllsernpsk nirmmqaqea vsrvkrmqka akikkkanse
      421 gdaqtltevd lfistqrikv lnadtqetmm dhalrtisyi adignivvlm arrrmprsas
      481 qdciettpga qegkkqykmi chvfesedaq liaqsigqaf svayqeflra nginpedlsq
      541 keysdiintq emynddlihf snsenckelq lekhkgeilg vvvvesgwgs ilptvilanm
      601 mnggpaarsg klsigdqims ingtslvglp latcqgiikg lknqtqvkln ivscppvttv
      661 likrpdlkyq lgfsvqngii cslmrggiae rggvrvghri ieingqsvva tahekivqal
      721 snsvgeihmk tmpaamfrll tgqetplyi
//
LOCUS       NP_001352719             797 aa            linear   PRI 18-DEC-2022
DEFINITION  kelch-like protein 33 isoform 1 [Homo sapiens].
ACCESSION   NP_001352719 XP_005267404
VERSION     NP_001352719.1
DBSOURCE    REFSEQ: accession NM_001365790.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 797)
  AUTHORS   Dhanoa BS, Cogliati T, Satish AG, Bruford EA and Friedman JS.
  TITLE     Update on the Kelch-like (KLHL) gene family
  JOURNAL   Hum Genomics 7 (1), 13 (2013)
   PUBMED   23676014
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 797)
  AUTHORS   Choy KW, Wang CC, Ogura A, Lau TK, Rogers MS, Ikeo K, Gojobori T,
            Lam DS and Pang CP.
  TITLE     Genomic annotation of 15,809 ESTs identified from pooled early
            gestation human eyes
  JOURNAL   Physiol Genomics 25 (1), 9-15 (2006)
   PUBMED   16368877
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355075.6.
            On Sep 12, 2018 this sequence version replaced XP_005267404.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138518.508330.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158800, SAMN03465413
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000636854.3/ ENSP00000490040.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..797
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     Protein         1..797
                     /product="kelch-like protein 33 isoform 1"
                     /note="kelch-like protein 33"
                     /calculated_mol_wt=86450
     Region          95..193
                     /region_name="BTB1_POZ_KLHL33"
                     /note="first BTB (Broad-Complex, Tramtrack and Bric a
                     brac)/POZ (poxvirus and zinc finger) domain found in
                     Kelch-like protein 33 (KLHL33); cd18262"
                     /db_xref="CDD:349571"
     Region          224..341
                     /region_name="BTB_POZ"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain superfamily; cl38908"
                     /db_xref="CDD:453885"
     Region          334..408
                     /region_name="BACK_KLHL33"
                     /note="BACK (BTB and C-terminal Kelch) domain found in
                     Kelch-like protein 33 (KLHL33); cd18472"
                     /db_xref="CDD:350547"
     Region          525..574
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          <538..742
                     /region_name="PHA03098"
                     /note="kelch-like protein; Provisional"
                     /db_xref="CDD:222983"
     Region          576..619
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          623..669
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          672..717
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          719..765
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     CDS             1..797
                     /gene="KLHL33"
                     /coded_by="NM_001365790.2:88..2481"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS91847.1"
                     /db_xref="GeneID:123103"
                     /db_xref="HGNC:HGNC:31952"
ORIGIN      
        1 msvsdtphyp pelesvshpv qrdclgllvh aqrtpswpps pdedprlpsf pleepgsrpl
       61 vprnlpfpal sleeeeeeee dedaaepewl rseehpsqff aeaqrlreqr llldeevsva
      121 grvygvhrvi laaisslfrd rllggggprp pfslevspgg weavltfaye gvlgpasqgd
      181 vlaaaealga prvkaaaqqt ceragnared vkkpsqaeel renlrgiell yregvgcdlk
      241 leaggcqlsv hraalacgse ffgamllsgm resqgtevsl rtistqdlrl lvsfaysgvv
      301 rarwpgllra aqaalqyqss scldlcqkgl arglsparcl alfpmaeapg lerlwskarh
      361 yllthlpava lcpafpslpa aclaelldsd elhvqeefea fvaarcwlaa npetqeseak
      421 allrcvrfgr mstrelrrvr aagllppltp dllhqlmvea dvpgqerrre pdralvvigg
      481 dglrpdmalr qpsravwwar afrcgvglvr tvewgqlpal papgrfrhga aslagselyv
      541 cggqdfyshs ntlastlrwe psqedweema plsqarslfs lvaldgklya lggrhndval
      601 dsvetynpel nvwrpapalp apcfahaaai legqlyvsgg cggtgqylas lmhydpklek
      661 pgtflspmgv praghvmaal ggrlyvaggl getedllsfe ayelrtdswt hlaplpsphv
      721 gaasavlqge llvlggyshr tyalshliha ycpglgrwlc lgtlprprae mpaciltlpa
      781 vqhialvptp hqtkpag
//
LOCUS       NP_001308397             415 aa            linear   PRI 23-DEC-2022
DEFINITION  THUMP domain-containing protein 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001308397 XP_011531420
VERSION     NP_001308397.1
DBSOURCE    REFSEQ: accession NM_001321468.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 415)
  AUTHORS   Brumele B, Mutso M, Telanne L, Ounap K, Spunde K, Abroi A and Kurg
            R.
  TITLE     Human TRMT112-Methyltransferase Network Consists of Seven Partners
            Interacting with a Common Co-Factor
  JOURNAL   Int J Mol Sci 22 (24), 13593 (2021)
   PUBMED   34948388
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 415)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 415)
  AUTHORS   Terracciano A, Sanna S, Uda M, Deiana B, Usala G, Busonero F,
            Maschio A, Scally M, Patriciu N, Chen WM, Distel MA, Slagboom EP,
            Boomsma DI, Villafuerte S, Sliwerska E, Burmeister M, Amin N,
            Janssens AC, van Duijn CM, Schlessinger D, Abecasis GR and Costa PT
            Jr.
  TITLE     Genome-wide association scan for five major dimensions of
            personality
  JOURNAL   Mol Psychiatry 15 (6), 647-656 (2010)
   PUBMED   18957941
REFERENCE   4  (residues 1 to 415)
  AUTHORS   Zhang Y, Gorry MC, Hart PS, Pettenati MJ, Wang L, Marks JJ, Lu X
            and Hart TC.
  TITLE     Localization, genomic organization, and alternative transcription
            of a novel human SAM-dependent methyltransferase gene on chromosome
            2p22-->p21
  JOURNAL   Cytogenet Cell Genet 95 (3-4), 146-152 (2001)
   PUBMED   12063391
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007253.2 and AC007246.3.
            On Mar 25, 2016 this sequence version replaced XP_011531420.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.130207.1,
                                           SRR14038192.473331.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..415
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.1"
     Protein         1..415
                     /product="THUMP domain-containing protein 2 isoform 2"
                     /note="SAM-dependent methyltransferase; THUMP
                     domain-containing protein 2; epididymis secretory sperm
                     binding protein"
                     /calculated_mol_wt=46491
     Region          113..>349
                     /region_name="Trm11"
                     /note="tRNA G10 N-methylase Trm11 [Translation, ribosomal
                     structure and biogenesis]; COG1041"
                     /db_xref="CDD:223971"
     Region          274..>353
                     /region_name="AdoMet_MTases"
                     /note="S-adenosylmethionine-dependent methyltransferases
                     (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes
                     that use S-adenosyl-L-methionine (SAM or AdoMet) as a
                     substrate for methyltransfer, creating the product
                     S-adenosyl-L-homocysteine (AdoHcy); cl17173"
                     /db_xref="CDD:450167"
     CDS             1..415
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /coded_by="NM_001321468.1:38..1285"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="GeneID:80745"
                     /db_xref="HGNC:HGNC:14890"
                     /db_xref="MIM:611751"
ORIGIN      
        1 mseargepgs gpeagarffc tagrglepfv mrevrarlaa tqveyisgkv ffttcsdlnm
       61 lkklksaerl fllikkqfpl iissvskgki fnemqrline dpgswlnais iwknllelda
      121 kkeklsqrdd nqlkrkvgen eiiakklkie qmqkieenrd cqlekqikee tleqrdfttk
      181 sekfqeeefq ndiekaidth nqndltfrvs crcsgtigka ftaqevgkvi giaimkhfgw
      241 kadlrnpqle ifihlndiys vvgipvfrvs lasrayikta glrstiawam asladikaga
      301 fvldpmcglg tilleaakew pdvyyvgadv sdsqllgtwd nlkaagledk iellkisvia
      361 rcliwptpys arfmklpgcp fgksegnves dgnchclqkv lillfltfhl gksls
//
LOCUS       NP_001269163             227 aa            linear   PRI 24-DEC-2022
DEFINITION  proteasome subunit alpha type-6 isoform c [Homo sapiens].
ACCESSION   NP_001269163 XP_005267925
VERSION     NP_001269163.1
DBSOURCE    REFSEQ: accession NM_001282234.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 227)
  AUTHORS   de Almeida M, Hinterndorfer M, Brunner H, Grishkovskaya I, Singh K,
            Schleiffer A, Jude J, Deswal S, Kalis R, Vunjak M, Lendl T, Imre R,
            Roitinger E, Neumann T, Kandolf S, Schutzbier M, Mechtler K,
            Versteeg GA, Haselbach D and Zuber J.
  TITLE     AKIRIN2 controls the nuclear import of proteasomes in vertebrates
  JOURNAL   Nature 599 (7885), 491-496 (2021)
   PUBMED   34711951
REFERENCE   2  (residues 1 to 227)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 227)
  AUTHORS   Zmorzynski S, Popek-Marciniec S, Styk W, Wojcierowska-Litwin M,
            Korszen-Pilecka I, Szudy-Szczyrek A, Chocholska S, Hus M and Filip
            AA.
  TITLE     The Impact of the NOD2/CARD15 Variant (3020insC) and PSMA6
            Polymorphism (-8C>G) on the Development and Outcome of Multiple
            Myeloma
  JOURNAL   Biomed Res Int 2020, 7629456 (2020)
   PUBMED   32596371
  REMARK    GeneRIF: The Impact of the NOD2/CARD15 Variant (3020insC) and PSMA6
            Polymorphism (-8C>G) on the Development and Outcome of Multiple
            Myeloma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 227)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 227)
  AUTHORS   Bakke J, Wright WC, Zamora AE, Oladimeji P, Crawford JC, Brewer CT,
            Autry RJ, Evans WE, Thomas PG and Chen T.
  TITLE     Genome-wide CRISPR screen reveals PSMA6 to be an essential gene in
            pancreatic cancer cells
  JOURNAL   BMC Cancer 19 (1), 253 (2019)
   PUBMED   30898113
  REMARK    GeneRIF: Genome-wide CRISPR screen followed by multiple siRNA
            screens in several pancreatic ductal adenocarcinoma (PDAC) cell
            models and in a noncancerous cell model validated PSMA6 as gene
            essential for cancer cells survival and showed that inhibition of
            this gene induces apoptosis and results in significantly reduced
            cell viability. Study provide compelling evidence that PSMA6 plays
            a significant oncogenic role.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 227)
  AUTHORS   Nederlof PM, Wang HR and Baumeister W.
  TITLE     Nuclear localization signals of human and Thermoplasma proteasomal
            alpha subunits are functional in vitro
  JOURNAL   Proc Natl Acad Sci U S A 92 (26), 12060-12064 (1995)
   PUBMED   8618844
REFERENCE   7  (residues 1 to 227)
  AUTHORS   Kristensen P, Johnsen AH, Uerkvitz W, Tanaka K and Hendil KB.
  TITLE     Human proteasome subunits from 2-dimensional gels identified by
            partial sequencing
  JOURNAL   Biochem Biophys Res Commun 205 (3), 1785-1789 (1994)
   PUBMED   7811265
  REMARK    Erratum:[Biochem Biophys Res Commun. 1995 Feb 27;207(3):1059. PMID:
            7864893]
REFERENCE   8  (residues 1 to 227)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   9  (residues 1 to 227)
  AUTHORS   Bey F, Silva Pereira I, Coux O, Viegas-Pequignot E, Recillas Targa
            F, Nothwang HG, Dutrillaux B and Scherrer K.
  TITLE     The prosomal RNA-binding protein p27K is a member of the alpha-type
            human prosomal gene family
  JOURNAL   Mol Gen Genet 237 (1-2), 193-205 (1993)
   PUBMED   7681138
REFERENCE   10 (residues 1 to 227)
  AUTHORS   DeMartino GN, Orth K, McCullough ML, Lee LW, Munn TZ, Moomaw CR,
            Dawson PA and Slaughter CA.
  TITLE     The primary structures of four subunits of the human,
            high-molecular-weight proteinase, macropain (proteasome), are
            distinct but homologous
  JOURNAL   Biochim Biophys Acta 1079 (1), 29-38 (1991)
   PUBMED   1888762
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AA090836.1, HY028439.1,
            AK302008.1 and BQ009843.1.
            On Aug 24, 2013 this sequence version replaced XP_005267925.1.
            
            Summary: The proteasome is a multicatalytic proteinase complex with
            a highly ordered ring-shaped 20S core structure. The core structure
            is composed of 4 rings of 28 non-identical subunits; 2 rings are
            composed of 7 alpha subunits and 2 rings are composed of 7 beta
            subunits. Proteasomes are distributed throughout eukaryotic cells
            at a high concentration and cleave peptides in an
            ATP/ubiquitin-dependent process in a non-lysosomal pathway. An
            essential function of a modified proteasome, the immunoproteasome,
            is the processing of class I MHC peptides. This gene encodes a
            member of the peptidase T1A family, that is a 20S core alpha
            subunit. Multiple transcript variants encoding several different
            isoforms have been found for this gene. A pseudogene has been
            identified on the Y chromosome. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (4) has an alternate first exon
            compared to variant 1. The resulting isoform (c) has a shorter and
            distinct N-terminus compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.61349.1,
                                           SRR1163658.468735.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..227
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q13.2"
     Protein         1..227
                     /product="proteasome subunit alpha type-6 isoform c"
                     /EC_number="3.4.25.1"
                     /note="macropain subunit iota; prosomal P27K protein;
                     proteasome subunit iota; proteasome iota chain; proteasome
                     subunit alpha 6; proteasome subunit alpha1; macropain iota
                     chain; multicatalytic endopeptidase complex iota chain; 27
                     kDa prosomal protein; PROS-27; proteasome (prosome,
                     macropain) subunit, alpha type, 6; testicular secretory
                     protein Li 44"
                     /calculated_mol_wt=25159
     Region          7..201
                     /region_name="proteasome_alpha_type_6"
                     /note="The 20S proteasome, multisubunit proteolytic
                     complex, is the central enzyme of nonlysosomal protein
                     degradation in both the cytosol and nucleus. It is
                     composed of 28 subunits arranged as four homoheptameric
                     rings that stack on top of one another forming...;
                     cd03754"
                     /db_xref="CDD:239723"
     Site            order(18,34,36,49,151)
                     /site_type="active"
                     /db_xref="CDD:239723"
     CDS             1..227
                     /gene="PSMA6"
                     /gene_synonym="IOTA; p27K; PROS27"
                     /coded_by="NM_001282234.1:143..826"
                     /note="isoform c is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS61437.1"
                     /db_xref="GeneID:5687"
                     /db_xref="HGNC:HGNC:9535"
                     /db_xref="MIM:602855"
ORIGIN      
        1 maglrreyaf kainqgglts vavrgkdcav ivtqkkvpdk lldsstvthl fkitenigcv
       61 mtgmtadsrs qvqraryeaa nwkykygyei pvdmlckria disqvytqna emrplgccmi
      121 ligideeqgp qvykcdpagy ycgfkataag vkqtestsfl ekkvkkkfdw tfeqtvetai
      181 tclstvlsid fkpseievgv vtvenpkfri lteaeidahl valaerd
//
LOCUS       NP_001034934             518 aa            linear   PRI 24-DEC-2022
DEFINITION  putative malate dehydrogenase 1B isoform a [Homo sapiens].
ACCESSION   NP_001034934
VERSION     NP_001034934.1
DBSOURCE    REFSEQ: accession NM_001039845.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 518)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK292378.1, BF979825.1 and AI076012.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.580052.1,
                                           SRR1803616.222585.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374412.8/ ENSP00000363533.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..518
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.3"
     Protein         1..518
                     /product="putative malate dehydrogenase 1B isoform a"
                     /EC_number="1.1.1.-"
                     /note="putative malate dehydrogenase 1B; malate
                     dehydrogenase 1B, NAD (soluble)"
                     /calculated_mol_wt=58520
     Region          9..459
                     /region_name="MDH_like"
                     /note="Malate dehydrogenase-like; cd05295"
                     /db_xref="CDD:133431"
     Site            order(138,140..143,169..170,214..216,256,258..259,282,314)
                     /site_type="other"
                     /note="putative NAD binding site [chemical binding]"
                     /db_xref="CDD:133431"
     Site            order(145,182..183,185,288..289,292,373..376,379)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:133431"
     Site            order(219,225,259,284,288,314,361,373)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:133431"
     CDS             1..518
                     /gene="MDH1B"
                     /gene_synonym="RP11-95H11"
                     /coded_by="NM_001039845.3:58..1614"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS33365.1"
                     /db_xref="GeneID:130752"
                     /db_xref="HGNC:HGNC:17836"
ORIGIN      
        1 makfviagra dcpyyaktel vadylqknlp dfrihkitqr pevwedwlkd vceknkwshk
       61 nspiiwrell drggkglllg gyneflehaq lyydvtssmt telmmviaqe nlgahiekeq
      121 eeealktcin plqvwitsas apacynlipi ltsgevfgmh teisitlfdn kqaeehlksl
      181 vvetqdlasp vlrsvsictk veeafrqahv ivvlddstnk evftledclr srvplcrlyg
      241 ylieknahes vrvivggrtf vnlktvllmr yapriahnii avalgvegea kailarklkt
      301 apsyikdvii wgnisgnnyv dlrktrvyry esaiwgplhy srpvlnlifd sewvkrefva
      361 ilknltttgr qfggilaahs iattlkywyh gsppgeivsl gilsegqfgi pkgivfsmpv
      421 kfengtwvvl tdlkdveise qimtrmtsdl iqeklvalgd kihfqpyqsg hkdlvpdeek
      481 nlamsdaaef pnqipqttfe kpqsleflne fegktves
//
LOCUS       NP_003609                894 aa            linear   PRI 24-DEC-2022
DEFINITION  mitogen-activated protein kinase kinase kinase kinase 3 isoform 1
            [Homo sapiens].
ACCESSION   NP_003609
VERSION     NP_003609.2
DBSOURCE    REFSEQ: accession NM_003618.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 894)
  AUTHORS   Chuang HC, Hung WT, Chen YM, Hsu PM, Yen JH, Lan JL and Tan TH.
  TITLE     Genomic sequencing and functional analyses identify MAP4K3/GLK
            germline and somatic variants associated with systemic lupus
            erythematosus
  JOURNAL   Ann Rheum Dis 81 (2), 243-254 (2022)
   PUBMED   34610951
  REMARK    GeneRIF: Genomic sequencing and functional analyses identify
            MAP4K3/GLK germline and somatic variants associated with systemic
            lupus erythematosus.
REFERENCE   2  (residues 1 to 894)
  AUTHORS   Song Y, Zhang F, Li L, Song B, Xu J, Wang G and Zheng Z.
  TITLE     MiR-338-3p inhibits growth of glioblastoma through targeting MAP4K3
  JOURNAL   Minerva Med 112 (4), 531-533 (2021)
   PUBMED   31578840
  REMARK    GeneRIF: MiR-338-3p inhibits growth of glioblastoma through
            targeting MAP4K3.
REFERENCE   3  (residues 1 to 894)
  AUTHORS   Shi Y, Mo X, Hong S, Li T, Chen B and Chen G.
  TITLE     Studying the Role and Molecular Mechanisms of MAP4K3 in Sorafenib
            Resistance of Hepatocellular Carcinoma
  JOURNAL   Biomed Res Int 2020, 4965670 (2020)
   PUBMED   33204699
  REMARK    GeneRIF: Studying the Role and Molecular Mechanisms of MAP4K3 in
            Sorafenib Resistance of Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 894)
  AUTHORS   Chuang HC, Chang CC, Teng CF, Hsueh CH, Chiu LL, Hsu PM, Lee MC,
            Hsu CP, Chen YR, Liu YC, Lyu PC and Tan TH.
  TITLE     MAP4K3/GLK Promotes Lung Cancer Metastasis by Phosphorylating and
            Activating IQGAP1
  JOURNAL   Cancer Res 79 (19), 4978-4993 (2019)
   PUBMED   31431460
  REMARK    GeneRIF: These findings show the critical role of the GLK-IQGAP
            cascade in cell migration and tumor metastasis
REFERENCE   5  (residues 1 to 894)
  AUTHORS   Chuang HC, Chen YM, Chen MH, Hung WT, Yang HY, Tseng YH and Tan TH.
  TITLE     AhR-ROR-gammat complex is a therapeutic target for
            MAP4K3/GLKhighIL-17Ahigh subpopulation of systemic lupus
            erythematosus
  JOURNAL   FASEB J 33 (10), 11469-11480 (2019)
   PUBMED   31318609
  REMARK    GeneRIF: The GLK-induced AhR-ROR-gammat (and AhR-phosphorylated
            ROR-gammat) complex is a therapeutic target for the
            GLK(high)IL-17A(high) subpopulation of human patients with SLE.
REFERENCE   6  (residues 1 to 894)
  AUTHORS   Bandyopadhyay S, Chiang CY, Srivastava J, Gersten M, White S, Bell
            R, Kurschner C, Martin C, Smoot M, Sahasrabudhe S, Barber DL,
            Chanda SK and Ideker T.
  TITLE     A human MAP kinase interactome
  JOURNAL   Nat Methods 7 (10), 801-805 (2010)
   PUBMED   20936779
REFERENCE   7  (residues 1 to 894)
  AUTHORS   Yan L, Mieulet V, Burgess D, Findlay GM, Sully K, Procter J, Goris
            J, Janssens V, Morrice NA and Lamb RF.
  TITLE     PP2A T61 epsilon is an inhibitor of MAP4K3 in nutrient signaling to
            mTOR
  JOURNAL   Mol Cell 37 (5), 633-642 (2010)
   PUBMED   20227368
  REMARK    GeneRIF: Amino acid sufficiency phosphorylates MAP4K3/Ser170,
            activating mTORC1, but amino acid restriction causes MAP4K3 to
            interact with PP2A(T61 epsilon), promoting dephosphorylation of
            Ser170, MAP4K3 inhibition, and, inhibition of mTORC1 signaling.
REFERENCE   8  (residues 1 to 894)
  AUTHORS   Lam,D. and Martins,L.M.
  TITLE     MAP4K3 enhances the expression of the BH3-only protein BID
  JOURNAL   Cell Cycle 8 (20), 3248-3249 (2009)
   PUBMED   19806019
REFERENCE   9  (residues 1 to 894)
  AUTHORS   Lam D, Dickens D, Reid EB, Loh SH, Moisoi N and Martins LM.
  TITLE     MAP4K3 modulates cell death via the post-transcriptional regulation
            of BH3-only proteins
  JOURNAL   Proc Natl Acad Sci U S A 106 (29), 11978-11983 (2009)
   PUBMED   19587239
  REMARK    GeneRIF: MAP4K3 orchestrates activation of BAX via the concerted
            posttranscriptional modulation of PUMA, BAD, and BIM.
REFERENCE   10 (residues 1 to 894)
  AUTHORS   Diener K, Wang XS, Chen C, Meyer CF, Keesler G, Zukowski M, Tan TH
            and Yao Z.
  TITLE     Activation of the c-Jun N-terminal kinase pathway by a novel
            protein kinase related to human germinal center kinase
  JOURNAL   Proc Natl Acad Sci U S A 94 (18), 9687-9692 (1997)
   PUBMED   9275185
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA409370.1, AK291467.1,
            AC007684.3, AK021553.1 and AC079615.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 6, 2001 this sequence version replaced NP_003609.1.
            
            Summary: This gene encodes a member of the mitogen-activated
            protein kinase kinase kinase kinase family. The encoded protein
            activates key effectors in cell signalling, among them c-Jun.
            Alternatively spliced transcripts encoding multiple isoforms have
            been observed for this gene. [provided by RefSeq, Jul 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer protein (isoform 1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC060880.1, SRR1660809.155177.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263881.8/ ENSP00000263881.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..894
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.1"
     Protein         1..894
                     /product="mitogen-activated protein kinase kinase kinase
                     kinase 3 isoform 1"
                     /EC_number="2.7.11.1"
                     /note="germinal center kinase-related protein kinase;
                     germinal center kinase-like kinase; MEK kinase kinase 3;
                     MAPK/ERK kinase kinase kinase 3"
                     /calculated_mol_wt=101185
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8IVH8.1)"
     Region          15..273
                     /region_name="STKc_MAP4K3_like"
                     /note="Catalytic domain of Mitogen-activated protein
                     kinase kinase kinase kinase (MAP4K) 3-like
                     Serine/Threonine Kinases; cd06613"
                     /db_xref="CDD:270788"
     Site            order(22..26,30,43,45,74,90..93,96..97,100,136,138..141,
                     143,153..154,157,171..174,176,206,215)
                     /site_type="active"
                     /db_xref="CDD:270788"
     Site            order(22..26,30,43,45,74,90..93,96..97,100,140..141,143,
                     154)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270788"
     Site            order(25..26,136,138..140,157,171..174,176,206,215)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270788"
     Site            order(153..164,167..176)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270788"
     Site            329
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q99JP0; propagated from
                     UniProtKB/Swiss-Prot (Q8IVH8.1)"
     Site            398
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q8IVH8.1)"
     Region          410..536
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVH8.1)"
     Region          561..874
                     /region_name="CNH"
                     /note="Domain found in NIK1-like kinases, mouse citron and
                     yeast ROM1, ROM2; smart00036"
                     /db_xref="CDD:214481"
     CDS             1..894
                     /gene="MAP4K3"
                     /gene_synonym="GLK; MAPKKKK3; MEKKK 3; MEKKK3; RAB8IPL1"
                     /coded_by="NM_003618.4:299..2983"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1803.1"
                     /db_xref="GeneID:8491"
                     /db_xref="HGNC:HGNC:6865"
                     /db_xref="MIM:604921"
ORIGIN      
        1 mnpgfdlsrr npqedfeliq rigsgtygdv ykarnvntge laaikvikle pgedfavvqq
       61 eiimmkdckh pnivayfgsy lrrdklwicm efcgggslqd iyhvtgplse lqiayvsret
      121 lqglyylhsk gkmhrdikga nilltdnghv kladfgvsaq itatiakrks figtpywmap
      181 evaaverkgg ynqlcdlwav gitaielael qppmfdlhpm ralflmtksn fqppklkdkm
      241 kwsnsfhhfv kmaltknpkk rptaekllqh pfvtqhltrs laielldkvn npdhstyhdf
      301 ddddpeplva vphrihstsr nvreektrse itfgqvkfdp plrketephh elpdsdgfld
      361 sseeiyytar snldlqleyg qghqggyflg anksllksve eelhqrghva hleddegddd
      421 eskhstlkak ippplppkpk sifipqemhs tedenqgtik rcpmsgspak psqvpprppp
      481 prlpphkpva lgngmssfql ngerdgslcq qqnehrgtnl srkekkdvpk pisnglpptp
      541 kvhmgacfsk vfngcplkih casswinpdt rdqylifgae egiytlnlne lhetsmeqlf
      601 prrctwlyvm nncllsisgk asqlyshnlp glfdyarqmq klpvaipahk lpdrilprkf
      661 svsakipetk wcqkccvvrn pytghkylcg alqtsivlle wvepmqkfml ikhidfpipc
      721 plrmfemlvv peqeyplvcv gvsrgrdfnq vvrfetvnpn stsswftesd tpqtnvthvt
      781 qlerdtilvc ldccikivnl qgrlkssrkl sseltfdfqi esivclqdsv lafwkhgmqg
      841 rsfrsnevtq eisdstrifr llgsdrvvvl esrptdnpta nsnlyilagh ensy
//
LOCUS       NP_976059                343 aa            linear   PRI 24-DEC-2022
DEFINITION  D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor [Homo
            sapiens].
ACCESSION   NP_976059
VERSION     NP_976059.1
DBSOURCE    REFSEQ: accession NM_203314.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 343)
  AUTHORS   Liu Z, Li Y, Liu Y, Yang D, Jiao Y and Liu Y.
  TITLE     Expression and clinical significance of BDH1 in liver cancer
  JOURNAL   Medicine (Baltimore) 100 (48), e28013 (2021)
   PUBMED   35049211
  REMARK    GeneRIF: Expression and clinical significance of BDH1 in liver
            cancer.
REFERENCE   2  (residues 1 to 343)
  AUTHORS   Zhang H, Chang Z, Qin LN, Liang B, Han JX, Qiao KL, Yang C, Liu YR,
            Zhou HG and Sun T.
  TITLE     MTA2 triggered R-loop trans-regulates BDH1-mediated
            beta-hydroxybutyrylation and potentiates propagation of
            hepatocellular carcinoma stem cells
  JOURNAL   Signal Transduct Target Ther 6 (1), 135 (2021)
   PUBMED   33795651
  REMARK    GeneRIF: MTA2 triggered R-loop trans-regulates BDH1-mediated
            beta-hydroxybutyrylation and potentiates propagation of
            hepatocellular carcinoma stem cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 343)
  AUTHORS   Maurer GD, Brucker DP, Bahr O, Harter PN, Hattingen E, Walenta S,
            Mueller-Klieser W, Steinbach JP and Rieger J.
  TITLE     Differential utilization of ketone bodies by neurons and glioma
            cell lines: a rationale for ketogenic diet as experimental glioma
            therapy
  JOURNAL   BMC Cancer 11, 315 (2011)
   PUBMED   21791085
  REMARK    GeneRIF: Data show that the ketone body metabolizing enzymes BDH1,
            BDH2, OXCT1 and ACAT1 were expressed at the mRNA and protein level
            in all glioma cell lines.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 343)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 343)
  AUTHORS   Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD,
            Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser
            E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J and
            Oppermann U.
  TITLE     The SDR (short-chain dehydrogenase/reductase and related enzymes)
            nomenclature initiative
  JOURNAL   Chem Biol Interact 178 (1-3), 94-98 (2009)
   PUBMED   19027726
REFERENCE   6  (residues 1 to 343)
  AUTHORS   Chelius D, Loeb-Hennard C, Fleischer S, McIntyre JO, Marks AR, De
            S, Hahn S, Jehl MM, Moeller J, Philipp R, Wise JG and Trommer WE.
  TITLE     Phosphatidylcholine activation of human heart (R)-3-hydroxybutyrate
            dehydrogenase mutants lacking active center sulfhydryls:
            site-directed mutagenesis of a new recombinant fusion protein
  JOURNAL   Biochemistry 39 (32), 9687-9697 (2000)
   PUBMED   10933785
REFERENCE   7  (residues 1 to 343)
  AUTHORS   Green D, Marks AR, Fleischer S and McIntyre JO.
  TITLE     Wild type and mutant human heart (R)-3-hydroxybutyrate
            dehydrogenase expressed in insect cells
  JOURNAL   Biochemistry 35 (25), 8158-8165 (1996)
   PUBMED   8679568
REFERENCE   8  (residues 1 to 343)
  AUTHORS   Langston HP, Jones L, Churchill S and Churchill PF.
  TITLE     Purification and characterization of a (R)-3-hydroxybutyrate
            dehydrogenase deletion mutant. Evidence for C-terminal involvement
            in enzyme activation by lecithin
  JOURNAL   Arch Biochem Biophys 327 (1), 45-52 (1996)
   PUBMED   8615695
REFERENCE   9  (residues 1 to 343)
  AUTHORS   Adami P, Duncan TM, McIntyre JO, Carter CE, Fu C, Melin M, Latruffe
            N and Fleischer S.
  TITLE     Monoclonal antibodies for structure-function studies of
            (R)-3-hydroxybutyrate dehydrogenase, a lipid-dependent
            membrane-bound enzyme
  JOURNAL   Biochem J 292 (Pt 3) (Pt 3), 863-872 (1993)
   PUBMED   7686368
REFERENCE   10 (residues 1 to 343)
  AUTHORS   Marks AR, McIntyre JO, Duncan TM, Erdjument-Bromage H, Tempst P and
            Fleischer S.
  TITLE     Molecular cloning and characterization of (R)-3-hydroxybutyrate
            dehydrogenase from human heart
  JOURNAL   J Biol Chem 267 (22), 15459-15463 (1992)
   PUBMED   1639787
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC128709.6 and BC005844.2.
            
            Summary: This gene encodes a member of the short-chain
            dehydrogenase/reductase gene family. The encoded protein forms a
            homotetrameric lipid-requiring enzyme of the mitochondrial membrane
            and has a specific requirement for phosphatidylcholine for optimal
            enzymatic activity. The encoded protein catalyzes the
            interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two
            major ketone bodies produced during fatty acid catabolism.
            Alternatively spliced transcript variants encoding the same protein
            have been described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) includes an additional exon in
            the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the
            same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.24779.1,
                                           SRR11853565.21620.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000392379.6/
                                                  ENSP00000376184.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..343
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q29"
     Protein         1..343
                     /product="D-beta-hydroxybutyrate dehydrogenase,
                     mitochondrial precursor"
                     /EC_number="1.1.1.30"
                     /note="(R)-3-hydroxybutyrate dehydrogenase;
                     3-hydroxybutyrate dehydrogenase, type 1; 3-hydroxybutyrate
                     dehydrogenase (heart, mitochondrial);
                     D-beta-hydroxybutyrate dehydrogenase, mitochondrial; short
                     chain dehydrogenase/reductase family 9C member 1;
                     epididymis secretory sperm binding protein"
                     /calculated_mol_wt=33075
     transit_peptide 1..46
                     /calculated_mol_wt=5100
     mat_peptide     47..343
                     /product="D-beta-hydroxybutyrate dehydrogenase,
                     mitochondrial"
                     /calculated_mol_wt=33075
     Region          56..341
                     /region_name="type2_17beta_HSD-like_SDR_c"
                     /note="human 17beta-hydroxysteroid dehydrogenase type 2
                     (type 2 17beta-HSD)-like, classical (c) SDRs; cd09805"
                     /db_xref="CDD:187665"
     Site            order(62,64..67,87,112..114,144..147,167,193..195,208,212,
                     241,243..245)
                     /site_type="other"
                     /note="NADP binding site [chemical binding]"
                     /db_xref="CDD:187665"
     Site            73
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q80XN0; propagated from
                     UniProtKB/Swiss-Prot (Q02338.3)"
     Site            97
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q80XN0; propagated from
                     UniProtKB/Swiss-Prot (Q02338.3)"
     Site            132
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q80XN0; propagated from
                     UniProtKB/Swiss-Prot (Q02338.3)"
     Site            order(168,195,208,212)
                     /site_type="active"
                     /db_xref="CDD:187665"
     Site            177
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q80XN0; propagated from
                     UniProtKB/Swiss-Prot (Q02338.3)"
     Site            order(195..197,202,208,239..240,246,276,279,321)
                     /site_type="other"
                     /note="steroid binding site"
                     /db_xref="CDD:187665"
     Site            212
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q80XN0; propagated from
                     UniProtKB/Swiss-Prot (Q02338.3)"
     Site            219
                     /site_type="glycosylation"
                     /note="O-linked (GlcNAc) serine. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q02338.3)"
     Site            246
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P29147; propagated from
                     UniProtKB/Swiss-Prot (Q02338.3)"
     Site            258
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q80XN0; propagated from
                     UniProtKB/Swiss-Prot (Q02338.3)"
     Site            259
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q80XN0; propagated from
                     UniProtKB/Swiss-Prot (Q02338.3)"
     Site            280
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q80XN0; propagated from
                     UniProtKB/Swiss-Prot (Q02338.3)"
     CDS             1..343
                     /gene="BDH1"
                     /gene_synonym="BDH; SDR9C1"
                     /coded_by="NM_203314.3:384..1415"
                     /db_xref="CCDS:CCDS3328.1"
                     /db_xref="GeneID:622"
                     /db_xref="HGNC:HGNC:1027"
                     /db_xref="MIM:603063"
ORIGIN      
        1 mlatrlsrpl srlpgktlsa cdrengarrp lllgstsfip igrrtyasaa epvgskavlv
       61 tgcdsgfgfs lakhlhskgf lvfagclmkd kghdgvkeld slnsdrlrtv qlnvcsseev
      121 ekvveivrss lkdpekgmwg lvnnagistf geveftslet ykqvaevnlw gtvrmtksfl
      181 plirrakgrv vnissmlgrm anparspyci tkfgveafsd clryemyplg vkvsvvepgn
      241 fiaatslysp esiqaiakkm weelpevvrk dygkkyfdek iakmetycss gstdtspvid
      301 avthaltatt pytryhpmdy ywwlrmqimt hlpgaisdmi yir
//
LOCUS       NP_001352752             848 aa            linear   PRI 24-DEC-2022
DEFINITION  type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 6 [Homo
            sapiens].
ACCESSION   NP_001352752
VERSION     NP_001352752.1
DBSOURCE    REFSEQ: accession NM_001365823.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 848)
  AUTHORS   Droubi A, Wallis C, Anderson KE, Rahman S, de Sa A, Rahman T,
            Stephens LR, Hawkins PT and Lowe M.
  TITLE     The inositol 5-phosphatase INPP5B regulates B cell receptor
            clustering and signaling
  JOURNAL   J Cell Biol 221 (9) (2022)
   PUBMED   35878408
  REMARK    GeneRIF: The inositol 5-phosphatase INPP5B regulates B cell
            receptor clustering and signaling.
REFERENCE   2  (residues 1 to 848)
  AUTHORS   Nakatsu F, Messa M, Nandez R, Czapla H, Zou Y, Strittmatter SM and
            De Camilli P.
  TITLE     Sac2/INPP5F is an inositol 4-phosphatase that functions in the
            endocytic pathway
  JOURNAL   J Cell Biol 209 (1), 85-95 (2015)
   PUBMED   25869668
REFERENCE   3  (residues 1 to 848)
  AUTHORS   Montjean R, Aoidi R, Desbois P, Rucci J, Trichet M, Salomon R,
            Rendu J, Faure J, Lunardi J, Gacon G, Billuart P and Dorseuil O.
  TITLE     OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit
            INPP5B-independent phenotypic variability relatively to Lowe
            syndrome cells
  JOURNAL   Hum Mol Genet 24 (4), 994-1006 (2015)
   PUBMED   25305077
  REMARK    GeneRIF: OCRL-mutated fibroblasts from patients with Dent-2 disease
            exhibit INPP5B-independent phenotypic variability relatively to
            Lowe syndrome cells
REFERENCE   4  (residues 1 to 848)
  AUTHORS   Pirruccello M, Nandez R, Idevall-Hagren O, Alcazar-Roman A, Abriola
            L, Berwick SA, Lucast L, Morel D and De Camilli P.
  TITLE     Identification of inhibitors of inositol 5-phosphatases through
            multiple screening strategies
  JOURNAL   ACS Chem Biol 9 (6), 1359-1368 (2014)
   PUBMED   24742366
REFERENCE   5  (residues 1 to 848)
  AUTHORS   Tresaugues L, Silvander C, Flodin S, Welin M, Nyman T, Graslund S,
            Hammarstrom M, Berglund H and Nordlund P.
  TITLE     Structural basis for phosphoinositide substrate recognition,
            catalysis, and membrane interactions in human inositol
            polyphosphate 5-phosphatases
  JOURNAL   Structure 22 (5), 744-755 (2014)
   PUBMED   24704254
  REMARK    GeneRIF: The crystal structures of human INPP5B in complex with
            phosphoinositide substrate analogs revealed a membrane interaction
            patch likely to assist in sequestering substrates from the lipid
            bilayer.
REFERENCE   6  (residues 1 to 848)
  AUTHORS   Speed CJ, Matzaris M, Bird PI and Mitchell CA.
  TITLE     Tissue distribution and intracellular localisation of the 75-kDa
            inositol polyphosphate 5-phosphatase
  JOURNAL   Eur J Biochem 234 (1), 216-224 (1995)
   PUBMED   8529643
REFERENCE   7  (residues 1 to 848)
  AUTHORS   Jefferson AB and Majerus PW.
  TITLE     Properties of type II inositol polyphosphate 5-phosphatase
  JOURNAL   J Biol Chem 270 (16), 9370-9377 (1995)
   PUBMED   7721860
REFERENCE   8  (residues 1 to 848)
  AUTHORS   Janne PA, Dutra AS, Dracopoli NC, Charnas LR, Puck JM and Nussbaum
            RL.
  TITLE     Localization of the 75-kDa inositol polyphosphate-5-phosphatase
            (INPP5B) to human chromosome band 1p34
  JOURNAL   Cytogenet Cell Genet 66 (3), 164-166 (1994)
   PUBMED   8125013
REFERENCE   9  (residues 1 to 848)
  AUTHORS   Ross TS, Jefferson AB, Mitchell CA and Majerus PW.
  TITLE     Cloning and expression of human 75-kDa inositol
            polyphosphate-5-phosphatase
  JOURNAL   J Biol Chem 266 (30), 20283-20289 (1991)
   PUBMED   1718960
REFERENCE   10 (residues 1 to 848)
  AUTHORS   Mitchell CA, Connolly TM and Majerus PW.
  TITLE     Identification and isolation of a 75-kDa inositol
            polyphosphate-5-phosphatase from human platelets
  JOURNAL   J Biol Chem 264 (15), 8873-8877 (1989)
   PUBMED   2542294
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL603790.41 and AL929472.21.
            
            Summary: This gene encodes a member of a family of inositol
            polyphosphate-5-phosphatases. These enzymes function in the
            regulation of calcium signaling by inactivating inositol
            phosphates. The encoded protein is localized to the cytosol and
            mitochondria, and associates with membranes through an isoprenyl
            modification near the C-terminus. Alternatively spliced transcript
            variants of this gene have been described. [provided by RefSeq, Jul
            2014].
            
            Transcript Variant: This variant (8), as well as variant 9, encodes
            isoform 6.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..848
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     Protein         1..848
                     /product="type II inositol 1,4,5-trisphosphate
                     5-phosphatase isoform 6"
                     /EC_number="3.1.3.36"
                     /note="phosphoinositide 5-phosphatase; type II inositol
                     1,4,5-trisphosphate 5-phosphatase; inositol
                     polyphosphate-5-phosphatase, 75kDa"
                     /calculated_mol_wt=96534
     Region          <29..81
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          200..493
                     /region_name="INPP5c_INPP5B"
                     /note="Catalytic inositol polyphosphate 5-phosphatase
                     (INPP5c) domain of Type II inositol polyphosphate
                     5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and
                     related proteins; cd09093"
                     /db_xref="CDD:197327"
     Site            order(208,210,238,241,243,246,308,314..315,335,338..339,
                     382,384,386,437..438,451,453,459,483..484)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:197327"
     Site            order(208,238,335,382,384,459,483..484)
                     /site_type="active"
                     /note="putative catalytic site [active]"
                     /db_xref="CDD:197327"
     Site            order(210,238,483)
                     /site_type="other"
                     /note="Mg binding site [ion binding]"
                     /db_xref="CDD:197327"
     Site            order(238,241,243,246,308,314..315,335,338..339,386,
                     437..438,451,453,483)
                     /site_type="other"
                     /note="putative PI/IP binding site [chemical binding]"
                     /db_xref="CDD:197327"
     Site            order(335,384,484)
                     /site_type="other"
                     /note="putative phosphate binding site [ion binding]"
                     /db_xref="CDD:197327"
     Region          627..847
                     /region_name="RhoGAP_OCRL1"
                     /note="RhoGAP (GTPase-activator protein [GAP] for Rho-like
                     small GTPases) domain present in OCRL1-like proteins.
                     OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins
                     contain two conserved domains: a central inositol
                     polyphosphate 5-phosphatase domain and...; cd04380"
                     /db_xref="CDD:239845"
     Site            order(707,742,746,809,812..813,838)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239845"
     Site            707
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239845"
     CDS             1..848
                     /gene="INPP5B"
                     /gene_synonym="5PTase"
                     /coded_by="NM_001365823.1:469..3015"
                     /note="isoform 6 is encoded by transcript variant 8"
                     /db_xref="GeneID:3633"
                     /db_xref="HGNC:HGNC:6077"
                     /db_xref="MIM:147264"
ORIGIN      
        1 mshrtgpksg fshssmrlsl faspfygqgs dvtvqldtae lslvfqlpfg sqtrmflhev
       61 aracpgfdsa trdpeflwls ryrcaelele mptprgcnsa lvtwpgyati ggggsnfdgl
      121 rpngkgvpmd qssrgqdkpe slqprqnksk seitdmvrss titvsdkahi lsmqkfglrd
      181 tivkshllqk eedytyiqnf rffagtynvn gqspkeclrl wlsngiqapd vycvgfqeld
      241 lskeafffhd tpkeeewfka vseglhpdak yakvklirlv gimlllyvkq ehaayiseve
      301 aetvgtgimg rmgnkggvai rfqfhntsic vvnshlaahi eeyerrnqdy kdicsrmqfc
      361 qpdpslpplt isnhdvilwl gdlnyrieel dvekvkklie ekdfqmlyay dqlkiqvaak
      421 tvfegftege ltfqptykyd tgsddwdtse kcrapawcdr ilwkgknitq lsyqshmalk
      481 tsdhkpvssv fdigvrvvnd elyrktleei vrsldkmena nipsvslskr efcfqnvkym
      541 qlkvesftih ngqvpchfef inkpdeesyc kqwlnanpsr gfllpdsdve idlelfvnkm
      601 tatklnsged kiedilvlhl drgkdyflsv sgnylpscfg spihtlcymr epildlplet
      661 iseltlmpvw tgddgsqlds pmeipkelwm mvdylyrnav qqedlfqqpg lrsefehird
      721 cldtgmidnl sasnhsvaea lllfleslpe pvicystyhn clecsgnyta skqvistlpi
      781 fhknvfhylm aflrellkns aknhldenil asifgslllr npaghqkldm tekkkaqefi
      841 hqflcnpl
//
LOCUS       NP_001230679             236 aa            linear   PRI 25-DEC-2022
DEFINITION  mitochondrial coenzyme A diphosphatase NUDT8 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001230679
VERSION     NP_001230679.1
DBSOURCE    REFSEQ: accession NM_001243750.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 236)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 236)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   3  (residues 1 to 236)
  AUTHORS   Gasmi L and McLennan AG.
  TITLE     The mouse Nudt7 gene encodes a peroxisomal nudix hydrolase specific
            for coenzyme A and its derivatives
  JOURNAL   Biochem J 357 (Pt 1), 33-38 (2001)
   PUBMED   11415433
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB140633.1, AK123561.1 and AP003385.2.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.549547.1,
                                           SRR1163658.22651.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376693.3/ ENSP00000365883.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..236
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     Protein         1..236
                     /product="mitochondrial coenzyme A diphosphatase NUDT8
                     isoform 1"
                     /note="nucleoside diphosphate-linked moiety X motif 8,
                     mitochondrial; nudix motif 8; nudix (nucleoside
                     diphosphate linked moiety X)-type motif 8; mitochondrial
                     coenzyme A diphosphatase NUDT8"
                     /calculated_mol_wt=25239
     Region          32..186
                     /region_name="CoAse"
                     /note="Coenzyme A pyrophosphatase (CoAse), a member of the
                     Nudix hydrolase superfamily, functions to catalyze the
                     elimination of oxidized inactive CoA, which can inhibit
                     CoA-utilizing enzymes. The need of CoAses mainly arises
                     under conditions of oxidative...; cd03426"
                     /db_xref="CDD:239518"
     Site            order(52,63,70,84..85,112)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:239518"
     Site            order(52,63,70,84,112)
                     /site_type="other"
                     /note="putative CoA binding site [chemical binding]"
                     /db_xref="CDD:239518"
     Site            69..92
                     /site_type="other"
                     /note="nudix motif"
                     /db_xref="CDD:239518"
     Region          70..91
                     /region_name="Nudix box"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WV74.2)"
     Site            85
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:239518"
     CDS             1..236
                     /gene="NUDT8"
                     /coded_by="NM_001243750.2:27..737"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS58151.1"
                     /db_xref="GeneID:254552"
                     /db_xref="HGNC:HGNC:8055"
ORIGIN      
        1 mlpdclsaeg elrcrrllag atarlrarpa saavlvplcs vrgvpallyt lrssrltgrh
       61 kgdvsfpggk cdpadqdvvh talretreel glavpeehvw gllrpvydpq katvvpvlag
      121 vgpldpqslr pnseevdevf alplahllqt qnqgythfcr gghfrytlpv flhgphrvwg
      181 ltavitefal qllapgtyqp rlagltcsga eglarpkqpl aspcqasstp glnkgl
//
LOCUS       NP_001171748             582 aa            linear   PRI 25-DEC-2022
DEFINITION  guanine nucleotide-binding protein-like 3-like protein [Homo
            sapiens].
ACCESSION   NP_001171748
VERSION     NP_001171748.1
DBSOURCE    REFSEQ: accession NM_001184819.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 582)
  AUTHORS   Dai G, Guo Z, Chen H, Jiang M, Zhou H, Bao J, Yu H and Huang J.
  TITLE     High expression of guanine nucleotide-binding protein-like-3-like
            is associated with poor prognosis in esophageal cancer
  JOURNAL   Medicine (Baltimore) 100 (21), e25993 (2021)
   PUBMED   34032716
  REMARK    GeneRIF: High expression of guanine nucleotide-binding
            protein-like-3-like is associated with poor prognosis in esophageal
            cancer.
REFERENCE   2  (residues 1 to 582)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 582)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 582)
  AUTHORS   Thoompumkal IJ, Rehna K, Anbarasu K and Mahalingam S.
  TITLE     Leucine Zipper Down-regulated in Cancer-1 (LDOC1) interacts with
            Guanine nucleotide binding protein-like 3-like (GNL3L) to modulate
            Nuclear Factor-kappa B (NF-kappaB) signaling during cell
            proliferation
  JOURNAL   Cell Cycle 15 (23), 3251-3267 (2016)
   PUBMED   27764577
  REMARK    GeneRIF: GNL3L-LDOC1 interplay regulates cell proliferation through
            the modulation of NF-kappaB pathway during tumorigenesis.
REFERENCE   5  (residues 1 to 582)
  AUTHORS   Oktar PA, Yildirim S, Balci D and Can A.
  TITLE     Continual expression throughout the cell cycle and downregulation
            upon adipogenic differentiation makes nucleostemin a vital human
            MSC proliferation marker
  JOURNAL   Stem Cell Rev Rep 7 (2), 413-424 (2011)
   PUBMED   21063916
  REMARK    GeneRIF: differences in the relative nucleostemin protein and mRNA
            levels may reflect the degree of proliferation of mesnchymal stem
            cells and can be used to characterize in vitro expansion
            capabilities
REFERENCE   6  (residues 1 to 582)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   7  (residues 1 to 582)
  AUTHORS   Zhu Q, Meng L, Hsu JK, Lin T, Teishima J and Tsai RY.
  TITLE     GNL3L stabilizes the TRF1 complex and promotes mitotic transition
  JOURNAL   J Cell Biol 185 (5), 827-839 (2009)
   PUBMED   19487455
REFERENCE   8  (residues 1 to 582)
  AUTHORS   Fu D and Collins K.
  TITLE     Purification of human telomerase complexes identifies factors
            involved in telomerase biogenesis and telomere length regulation
  JOURNAL   Mol Cell 28 (5), 773-785 (2007)
   PUBMED   18082603
REFERENCE   9  (residues 1 to 582)
  AUTHORS   Rao MR, Kumari G, Balasundaram D, Sankaranarayanan R and Mahalingam
            S.
  TITLE     A novel lysine-rich domain and GTP binding motifs regulate the
            nucleolar retention of human guanine nucleotide binding protein,
            GNL3L
  JOURNAL   J Mol Biol 364 (4), 637-654 (2006)
   PUBMED   17034816
  REMARK    GeneRIF: GNL3L is composed of distinct modules, each of which plays
            a specific role in molecular interactions for its nucleolar
            retention and subsequent function(s) within the nucleolus
REFERENCE   10 (residues 1 to 582)
  AUTHORS   Du X, Rao MR, Chen XQ, Wu W, Mahalingam S and Balasundaram D.
  TITLE     The homologous putative GTPases Grn1p from fission yeast and the
            human GNL3L are required for growth and play a role in processing
            of nucleolar pre-rRNA
  JOURNAL   Mol Biol Cell 17 (1), 460-474 (2006)
   PUBMED   16251348
  REMARK    GeneRIF: analysis uncovers an important role for Grn1p/GNL3L within
            this unique group of nucleolar GTPases
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK001475.1, BC003603.1,
            BQ674906.1 and AL391139.19.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene appears to be a nucleolar
            GTPase that is essential for ribosomal pre-rRNA processing and cell
            proliferation. Two transcript variants encoding the same protein
            have been found for this gene. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 both encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.153172.1,
                                           SRR1163657.539830.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360845.3/ ENSP00000354091.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..582
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.22"
     Protein         1..582
                     /product="guanine nucleotide-binding protein-like 3-like
                     protein"
                     /note="novel GTPase; guanine nucleotide binding
                     protein-like 3 (nucleolar)-like; G protein nucleolar 3B"
                     /calculated_mol_wt=65442
     Region          1..58
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NVN8.1)"
     Region          9..35
                     /region_name="Required for nucleolar localization"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NVN8.1)"
     Region          136..307
                     /region_name="Nucleostemin_like"
                     /note="A circularly permuted subfamily of the Ras GTPases;
                     cd04178"
                     /db_xref="CDD:206753"
     Site            order(173..174,176..177,202..204,261..267,306)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206753"
     Site            173..176
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206753"
     Site            202..204
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206753"
     Region          251..>405
                     /region_name="YeeP"
                     /note="Predicted GTPase [General function prediction
                     only]; COG3596"
                     /db_xref="CDD:226124"
     Site            259..266
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206753"
     Site            284..291
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206753"
     Site            287
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206753"
     Site            303..306
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206753"
     Site            305..307
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206753"
     CDS             1..582
                     /gene="GNL3L"
                     /gene_synonym="GNL3B"
                     /coded_by="NM_001184819.2:249..1997"
                     /db_xref="CCDS:CCDS14360.1"
                     /db_xref="GeneID:54552"
                     /db_xref="HGNC:HGNC:25553"
                     /db_xref="MIM:300873"
ORIGIN      
        1 mmklrhknkk pgegskghkk iswpypqpak qngkkatskv psaphfvhpn dhanreaelk
       61 kkwveemrek qqaareqerq krrtiesycq dvlrrqeefe hkeevlqeln mfpqlddeat
      121 rkayykefrk vveysdvile vldardplgc rcfqmeeavl raqgnkklvl vlnkidlvpk
      181 evvekwldyl rnelptvafk astqhqvknl nrcsvpvdqa sesllkskac fgaenlmrvl
      241 gnycrlgevr thirvgvvgl pnvgksslin slkrsracsv gavpgitkfm qevyldkfir
      301 lldapgivpg pnsevgtilr ncvhvqklad pvtpvetilq rcnleeisny ygvsgfqtte
      361 hfltavahrl gkkkkgglys qeqaakavla dwvsgkisfy ipppathtlp thlsaeivke
      421 mtevfdiedt eqanedtmec latgesdell gdtdplemei kllhspmtki adaienkttv
      481 ykigdltgyc tnpnrhqmgw akrnvdhrpk snsmvdvcsv drrsvlqrim etdplqqgqa
      541 lasalknkkk mqkradkias klsdsmmsal dlsgnaddgv gd
//
LOCUS       NP_001342463             714 aa            linear   PRI 25-DEC-2022
DEFINITION  testis-expressed protein 13D [Homo sapiens].
ACCESSION   NP_001342463
VERSION     NP_001342463.1
DBSOURCE    REFSEQ: accession NM_001355534.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 714)
  AUTHORS   Wright JC, Mudge J, Weisser H, Barzine MP, Gonzalez JM, Brazma A,
            Choudhary JS and Harrow J.
  TITLE     Improving GENCODE reference gene annotation using a high-stringency
            proteogenomics workflow
  JOURNAL   Nat Commun 7, 11778 (2016)
   PUBMED   27250503
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL022718.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000632372.3/ ENSP00000488696.1
            RefSeq Select criteria    :: based on single protein-coding
                                         transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..714
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq25"
     Protein         1..714
                     /product="testis-expressed protein 13D"
                     /calculated_mol_wt=78756
     Region          5..150
                     /region_name="TEX13"
                     /note="Testis-expressed sequence 13 protein family;
                     pfam15186"
                     /db_xref="CDD:434524"
     Region          300..419
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot
                     (A0A0J9YY54.1)"
     Region          431..675
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot
                     (A0A0J9YY54.1)"
     Region          681..701
                     /region_name="zf-RanBP"
                     /note="Zn-finger in Ran binding protein and others;
                     pfam00641"
                     /db_xref="CDD:395516"
     Region          681..700
                     /region_name="RanBP2-type Zn finger"
                     /note="RanBP2-type Zn finger [structural motif]"
                     /db_xref="CDD:275375"
     Site            order(683,686,697,700)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275375"
     CDS             1..714
                     /gene="TEX13D"
                     /coded_by="NM_001355534.2:259..2403"
                     /db_xref="CCDS:CCDS87773.1"
                     /db_xref="GeneID:100132015"
                     /db_xref="HGNC:HGNC:52278"
ORIGIN      
        1 mamnfgdhas gfrhndvirf innevlmdgs gpafyvafrs rpwnevedsl qaivadsqvp
       61 raikractws alalsvrvat rqreellhhv rrlqrhaeer qatswaltsq lqqlrlehev
      121 aatqlhlaqa alqqalnerd glygrllqie rfpqaaplah eimsgpqaeq ngaaacplat
      181 eqqsdmvamg thanaqmptp tdvlyvpgpl spwaqgmqpp lpvphpfphp ppfpmkfpsl
      241 pplppavvtg aeaaavplqm ppteihppcp wpavgfqeem aplwyqrsyi qeedskilqg
      301 sfplgdsrsh sqgegsersq rmplpgdsgc hnplsespqg taplgssgch sqeegtegpq
      361 gmdplgnrer qnqkegpkra rrmhtlvfrr shksegpegp qgtvpqgdsr sysqegcsdr
      421 aqematlvfi rrckpegpkr pqwtvplgds rshikeegpe gpqrivlqgd nrsysqegsp
      481 eraqgmatlv fsrsckpeeg perpqdtplg dsrshikeeg pegpqrivlq gdnrsysqeg
      541 speraqgmat lvfsrsckpe egperpqdtp lgdsrshike egpegpqriv lqgdnrsysq
      601 egsreraqgm atlvfsrsck peegperpqg tplgdsrshg vrespkkwqp qrqkakkpkv
      661 nkvsgsqqqe kpasfpvpvn wkcpwckain fswrtacykc kkacvpfesg gqtq
//
LOCUS       NP_001312                193 aa            linear   PRI 25-DEC-2022
DEFINITION  cysteine and glycine-rich protein 2 isoform b [Homo sapiens].
ACCESSION   NP_001312
VERSION     NP_001312.1
DBSOURCE    REFSEQ: accession NM_001321.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 193)
  AUTHORS   Chen L, Long X, Duan S, Liu X, Chen J, Lan J, Liu X, Huang W, Geng
            J and Zhou J.
  TITLE     CSRP2 suppresses colorectal cancer progression via p130Cas/Rac1
            axis-meditated ERK, PAK, and HIPPO signaling pathways
  JOURNAL   Theranostics 10 (24), 11063-11079 (2020)
   PUBMED   33042270
  REMARK    GeneRIF: CSRP2 suppresses colorectal cancer progression via
            p130Cas/Rac1 axis-meditated ERK, PAK, and HIPPO signaling pathways.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 193)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 193)
  AUTHORS   Hoffmann C, Mao X, Brown-Clay J, Moreau F, Al Absi A, Wurzer H,
            Sousa B, Schmitt F, Berchem G, Janji B and Thomas C.
  TITLE     Hypoxia promotes breast cancer cell invasion through
            HIF-1alpha-mediated up-regulation of the invadopodial actin
            bundling protein CSRP2
  JOURNAL   Sci Rep 8 (1), 10191 (2018)
   PUBMED   29976963
  REMARK    GeneRIF: Study showed that CSRP2, an invadopodial actin bundling
            protein, is upregulated by hypoxia in various breast cancer cell
            lines, as well as in pre-clinical and clinical breast tumor
            specimens and functionally characterized two hypoxia responsive
            elements within the proximal promoter of CSRP2 gene which are
            targeted by hypoxia-inducible factor-1 (HIF-1) and required for
            promoter transactivation in response to hypoxia.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 193)
  AUTHORS   Wang SJ, Wang PZ, Gale RP, Qin YZ, Liu YR, Lai YY, Jiang H, Jiang
            Q, Zhang XH, Jiang B, Xu LP, Huang XJ, Liu KY and Ruan GR.
  TITLE     Cysteine and glycine-rich protein 2 (CSRP2) transcript levels
            correlate with leukemia relapse and leukemia-free survival in
            adults with B-cell acute lymphoblastic leukemia and normal
            cytogenetics
  JOURNAL   Oncotarget 8 (22), 35984-36000 (2017)
   PUBMED   28415593
  REMARK    GeneRIF: CSRP2 promoted cell proliferation, cell-cycle progression,
            in vitro colony formation and cell migration ability. Abnormal
            CSRP2 expression was associated with resistance to chemotherapy;
            sensitivity was restored by down-regulating CSRP2 expression.
REFERENCE   5  (residues 1 to 193)
  AUTHORS   Kuo JC, Han X, Hsiao CT, Yates JR 3rd and Waterman CM.
  TITLE     Analysis of the myosin-II-responsive focal adhesion proteome
            reveals a role for beta-Pix in negative regulation of focal
            adhesion maturation
  JOURNAL   Nat Cell Biol 13 (4), 383-393 (2011)
   PUBMED   21423176
REFERENCE   6  (residues 1 to 193)
  AUTHORS   Weiskirchen R and Gressner AM.
  TITLE     The cysteine- and glycine-rich LIM domain protein CRP2 specifically
            interacts with a novel human protein (CRP2BP)
  JOURNAL   Biochem Biophys Res Commun 274 (3), 655-663 (2000)
   PUBMED   10924333
REFERENCE   7  (residues 1 to 193)
  AUTHORS   Weiskirchen R, Erdel M, Utermann G and Bister K.
  TITLE     Cloning, structural analysis, and chromosomal localization of the
            human CSRP2 gene encoding the LIM domain protein CRP2
  JOURNAL   Genomics 44 (1), 83-93 (1997)
   PUBMED   9286703
REFERENCE   8  (residues 1 to 193)
  AUTHORS   Jain MK, Fujita KP, Hsieh CM, Endege WO, Sibinga NE, Yet SF,
            Kashiki S, Lee WS, Perrella MA, Haber E and Lee ME.
  TITLE     Molecular cloning and characterization of SmLIM, a developmentally
            regulated LIM protein preferentially expressed in aortic smooth
            muscle cells
  JOURNAL   J Biol Chem 271 (17), 10194-10199 (1996)
   PUBMED   8626582
REFERENCE   9  (residues 1 to 193)
  AUTHORS   Karim MA, Ohta K, Egashira M, Jinno Y, Niikawa N, Matsuda I and
            Indo Y.
  TITLE     Human ESP1/CRP2, a member of the LIM domain protein family:
            characterization of the cDNA and assignment of the gene locus to
            chromosome 14q32.3
  JOURNAL   Genomics 31 (2), 167-176 (1996)
   PUBMED   8824798
REFERENCE   10 (residues 1 to 193)
  AUTHORS   Weiskirchen R, Pino JD, Macalma T, Bister K and Beckerle MC.
  TITLE     The cysteine-rich protein family of highly related LIM domain
            proteins
  JOURNAL   J Biol Chem 270 (48), 28946-28954 (1995)
   PUBMED   7499425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX461295.2, BC000992.2 and
            AC124784.4.
            
            Summary: CSRP2 is a member of the CSRP family of genes, encoding a
            group of LIM domain proteins, which may be involved in regulatory
            processes important for development and cellular differentiation.
            CRP2 contains two copies of the cysteine-rich amino acid sequence
            motif (LIM) with putative zinc-binding activity, and may be
            involved in regulating ordered cell growth. Other genes in the
            family include CSRP1 and CSRP3. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (1) encodes isoform b. Variants
            1-5 all encode the same isoform (b).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.172419.1,
                                           SRR5189652.173068.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311083.10/ ENSP00000310901.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..193
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.2"
     Protein         1..193
                     /product="cysteine and glycine-rich protein 2 isoform b"
                     /note="LIM domain only 5, smooth muscle; LMO-5;
                     cysteine-rich protein 2; LIM domain only protein 5; smooth
                     muscle cell LIM protein; epididymis secretory sperm
                     binding protein"
                     /calculated_mol_wt=20823
     Region          9..63
                     /region_name="LIM1_CRP2"
                     /note="The first LIM domain of Cysteine Rich Protein 2
                     (CRP2); cd09480"
                     /db_xref="CDD:188864"
     Site            order(10,13,31,34,37,40,58,61)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188864"
     Region          64..69
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16527.3)"
     Site            112
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P97314; propagated from
                     UniProtKB/Swiss-Prot (Q16527.3)"
     Region          119..172
                     /region_name="LIM2_CRP2"
                     /note="The second LIM domain of Cysteine Rich Protein 2
                     (CRP2); cd09840"
                     /db_xref="CDD:188871"
     Site            order(119,122,140,143,146,149,167,170)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188871"
     Site            131
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P21291; propagated from
                     UniProtKB/Swiss-Prot (Q16527.3)"
     Site            137
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P97315; propagated from
                     UniProtKB/Swiss-Prot (Q16527.3)"
     Site            161
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P97315; propagated from
                     UniProtKB/Swiss-Prot (Q16527.3)"
     CDS             1..193
                     /gene="CSRP2"
                     /gene_synonym="CRP2; LMO5; SmLIM"
                     /coded_by="NM_001321.3:84..665"
                     /note="isoform b is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9015.1"
                     /db_xref="GeneID:1466"
                     /db_xref="HGNC:HGNC:2470"
                     /db_xref="MIM:601871"
ORIGIN      
        1 mpvwgggnkc gacgrtvyha eevqcdgrsf hrccflcmvc rknldsttva ihdeeiycks
       61 cygkkygpkg ygygqgagtl nmdrgerlgi kpesvqphrp ttnpntskfa qkyggaekcs
      121 rcgdsvyaae kiigagkpwh kncfrcakcg kslesttlte kegeiyckgc yaknfgpkgf
      181 gygqgagalv haq
//
LOCUS       NP_001341375            1106 aa            linear   PRI 26-DEC-2022
DEFINITION  sodium-driven chloride bicarbonate exchanger isoform 10 [Homo
            sapiens].
ACCESSION   NP_001341375 XP_011509813
VERSION     NP_001341375.1
DBSOURCE    REFSEQ: accession NM_001354446.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1106)
  AUTHORS   Boger CA, Gorski M, McMahon GM, Xu H, Chang YC, van der Most PJ,
            Navis G, Nolte IM, de Borst MH, Zhang W, Lehne B, Loh M, Tan ST,
            Boerwinkle E, Grams ME, Sekula P, Li M, Wilmot B, Moon JG, Scheet
            P, Cucca F, Xiao X, Lyytikainen LP, Delgado G, Grammer TB, Kleber
            ME, Sedaghat S, Rivadeneira F, Corre T, Kutalik Z, Bergmann S,
            Nielson CM, Srikanth P, Teumer A, Muller-Nurasyid M, Brockhaus AC,
            Pfeufer A, Rathmann W, Peters A, Matsumoto M, de Andrade M,
            Atkinson EJ, Robinson-Cohen C, de Boer IH, Hwang SJ, Heid IM,
            Gogele M, Concas MP, Tanaka T, Bandinelli S, Nalls MA, Singleton A,
            Tajuddin SM, Adeyemo A, Zhou J, Doumatey A, McWeeney S, Murabito J,
            Franceschini N, Flessner M, Shlipak M, Wilson JG, Chen G, Rotimi
            CN, Zonderman AB, Evans MK, Ferrucci L, Devuyst O, Pirastu M,
            Shuldiner A, Hicks AA, Pramstaller PP, Kestenbaum B, Kardia SLR,
            Turner ST, Study LC, Briske TE, Gieger C, Strauch K, Meisinger C,
            Meitinger T, Volker U, Nauck M, Volzke H, Vollenweider P, Bochud M,
            Waeber G, Kahonen M, Lehtimaki T, Marz W, Dehghan A, Franco OH,
            Uitterlinden AG, Hofman A, Taylor HA, Chambers JC, Kooner JS, Fox
            CS, Hitzemann R, Orwoll ES, Pattaro C, Schlessinger D, Kottgen A,
            Snieder H, Parsa A and Cohen DM.
  TITLE     NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality
  JOURNAL   J Am Soc Nephrol 28 (8), 2311-2321 (2017)
   PUBMED   28360221
  REMARK    GeneRIF: genetic variation in SLC4A10 expression and function in
            the central nervous system may affect the regulation of systemic
            water balance
REFERENCE   2  (residues 1 to 1106)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   3  (residues 1 to 1106)
  AUTHORS   Mosbruger TL, Duggal P, Goedert JJ, Kirk GD, Hoots WK, Tobler LH,
            Busch M, Peters MG, Rosen HR, Thomas DL and Thio CL.
  TITLE     Large-scale candidate gene analysis of spontaneous clearance of
            hepatitis C virus
  JOURNAL   J Infect Dis 201 (9), 1371-1380 (2010)
   PUBMED   20331378
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 1106)
  AUTHORS   Liu W, Liu Y, Qin XJ, Schmidt S, Hauser MA and Allingham RR.
  TITLE     AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma
  JOURNAL   Mol Vis 16, 93-97 (2010)
   PUBMED   20101282
  REMARK    GeneRIF: There was no association between common sequence variants
            in the AQP1 or SLC4A10 genes and primary open-angle glaucoma in the
            Caucasian population.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1106)
  AUTHORS   Parker MD, Musa-Aziz R, Rojas JD, Choi I, Daly CM and Boron WF.
  TITLE     Characterization of human SLC4A10 as an electroneutral Na/HCO3
            cotransporter (NBCn2) with Cl- self-exchange activity
  JOURNAL   J Biol Chem 283 (19), 12777-12788 (2008)
   PUBMED   18319254
  REMARK    GeneRIF: propose to rename NCBE as the second electroneutral
            Na/HCO(3) cotransporter, NBCn2
REFERENCE   6  (residues 1 to 1106)
  AUTHORS   Gurnett CA, Veile R, Zempel J, Blackburn L, Lovett M and Bowcock A.
  TITLE     Disruption of sodium bicarbonate transporter SLC4A10 in a patient
            with complex partial epilepsy and mental retardation
  JOURNAL   Arch Neurol 65 (4), 550-553 (2008)
   PUBMED   18413482
  REMARK    GeneRIF: SLC4A10 (OMIM 605556), a sodium bicarbonate transporter
            gene with high expression in the cerebral cortex and hippocampus,
            was disrupted by the translocation breakpoint on chromosome 2q24.
REFERENCE   7  (residues 1 to 1106)
  AUTHORS   Jacobs S, Ruusuvuori E, Sipila ST, Haapanen A, Damkier HH, Kurth I,
            Hentschke M, Schweizer M, Rudhard Y, Laatikainen LM, Tyynela J,
            Praetorius J, Voipio J and Hubner CA.
  TITLE     Mice with targeted Slc4a10 gene disruption have small brain
            ventricles and show reduced neuronal excitability
  JOURNAL   Proc Natl Acad Sci U S A 105 (1), 311-316 (2008)
   PUBMED   18165320
REFERENCE   8  (residues 1 to 1106)
  AUTHORS   Wang CZ, Yano H, Nagashima K and Seino S.
  TITLE     The Na+-driven Cl-/HCO3- exchanger. Cloning, tissue distribution,
            and functional characterization
  JOURNAL   J Biol Chem 275 (45), 35486-35490 (2000)
   PUBMED   10993873
REFERENCE   9  (residues 1 to 1106)
  AUTHORS   Yano H, Wang C, Yamashita S, Yokoyama Y, Yokoi N and Seino S.
  TITLE     Assignment of the human solute carrier family 4, sodium bicarbonate
            cotransporter-like, member 10 gene (SLC4A10) to 2q23-->q24 by in
            situ hybridization and radiation hybrid mapping
  JOURNAL   Cytogenet Cell Genet 89 (3-4), 276-277 (2000)
   PUBMED   10965143
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC062022.6, AC096654.1,
            AC092841.4 and AC008063.2.
            On Aug 29, 2017 this sequence version replaced XP_011509813.1.
            
            Summary: This gene belongs to a small family of sodium-coupled
            bicarbonate transporters (NCBTs) that regulate the intracellular pH
            of neurons, the secretion of bicarbonate ions across the choroid
            plexus, and the pH of the brain extracellular fluid. The protein
            encoded by this gene was initially identified as a sodium-driven
            chloride bicarbonate exchanger (NCBE) though there is now evidence
            that its sodium/bicarbonate cotransport activity is independent of
            any chloride ion countertransport under physiological conditions.
            This gene is now classified as a member A10 of the SLC4 family of
            transmembrane solute carriers. Alternative splicing results in
            multiple transcript variants encoding distinct isoforms.[provided
            by RefSeq, May 2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.28628.1,
                                           SRR1803616.234578.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2152568
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1106
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.2"
     Protein         1..1106
                     /product="sodium-driven chloride bicarbonate exchanger
                     isoform 10"
                     /note="solute carrier family 4, sodium bicarbonate
                     cotransporter-like, member 10; sodium-driven chloride
                     bicarbonate exchanger; solute carrier family 4, sodium
                     bicarbonate transporter, member 10"
                     /calculated_mol_wt=124570
     Region          118..1031
                     /region_name="Band_3_cyto"
                     /note="Band 3 cytoplasmic domain; cl26877"
                     /db_xref="CDD:452680"
     CDS             1..1106
                     /gene="SLC4A10"
                     /gene_synonym="NBCn2; NCBE"
                     /coded_by="NM_001354446.2:104..3424"
                     /note="isoform 10 is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS86888.1"
                     /db_xref="GeneID:57282"
                     /db_xref="HGNC:HGNC:13811"
                     /db_xref="MIM:605556"
ORIGIN      
        1 meikdqgaqm epllptrnde eavvdrggtr silkthfeke dleghrtlfi gvhvplggrk
       61 shrrhrhrgh khrkrdrerd sgledgresp sfdtpsqrvq filgteddde ehiphdlfte
      121 ldeicwrege daewretarw lkfeedvedg gerwskpyva tlslhslfel rscilngtvl
      181 ldmhantlee iadmvldqqv ssgqlnedvr hrvhealmkq hhhqnqkklt nripivrsfa
      241 digkkqsepn smdknagqvv spqsapacve nkndvsrens tvdfskvdlh fmkkippgae
      301 asnilvgele fldrtvvafv rlspavllqg laevpiptrf lfillgplgk gqqyheigrs
      361 iatlmtdevf hdvaykakdr ndlvsgidef ldqvtvlppg ewdpsiriep pknvpsqekr
      421 kipavpngta ahgeaephgg hsgpelqrtg rifgglildi krkapyfwsd frdafslqcl
      481 asflflycac mspvitfggl lgeategris aieslfgasm tgiayslfgg qpltilgstg
      541 pvlvfekilf kfckeyglsy lslrasiglw tatlciilva tdasslvcyi trfteeafas
      601 liciifiyea leklfelsea ypinmhndle lltqyscncv ephnpsngtl kewresnisa
      661 sdiiwenltv seckslhgey vgracghdhp yvpdvlfwsv ilffstvtls atlkqfktsr
      721 yfptkvrsiv sdfavfltil cmvlidyaig ipspklqvps vfkptrddrg wfvtplgpnp
      781 wwtviaaiip allctilifm dqqitaviin rkehklkkgc gyhldllmva vmlgvcsimg
      841 lpwfvaatvl sithvnslkl esecsapgeq pkflgireqr vtglmifilm gssvfmtsil
      901 kfipmpvlyg vflymgassl kgiqffdrik lfwmpakhqp dfiylrhvpl rkvhlftiiq
      961 msclgllwii kvsraaivfp mmvlalvfvr klmdllftkr elswlddlmp eskkkkleda
     1021 ekeeeqsmla medegtvqlp leghyrddps vinisdemsk talwrnllit adnskdkess
     1081 fpsksiesrk ekkadsgkgv dretcl
//
LOCUS       NP_001351752             441 aa            linear   PRI 26-DEC-2022
DEFINITION  periphilin-1 isoform 10 [Homo sapiens].
ACCESSION   NP_001351752 XP_011536769
VERSION     NP_001351752.1
DBSOURCE    REFSEQ: accession NM_001364823.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 441)
  AUTHORS   Prigozhin DM, Douse CH, Farleigh LE, Albecka A, Tchasovnikarova IA,
            Timms RT, Oda SI, Adolf F, Freund SMV, Maslen S, Lehner PJ and
            Modis Y.
  TITLE     Periphilin self-association underpins epigenetic silencing by the
            HUSH complex
  JOURNAL   Nucleic Acids Res 48 (18), 10313-10328 (2020)
   PUBMED   32976585
  REMARK    GeneRIF: Periphilin self-association underpins epigenetic silencing
            by the HUSH complex.
REFERENCE   2  (residues 1 to 441)
  AUTHORS   Tchasovnikarova IA, Timms RT, Douse CH, Roberts RC, Dougan G,
            Kingston RE, Modis Y and Lehner PJ.
  TITLE     Hyperactivation of HUSH complex function by Charcot-Marie-Tooth
            disease mutation in MORC2
  JOURNAL   Nat Genet 49 (7), 1035-1044 (2017)
   PUBMED   28581500
REFERENCE   3  (residues 1 to 441)
  AUTHORS   Timms RT, Tchasovnikarova IA and Lehner PJ.
  TITLE     Position-effect variegation revisited: HUSHing up heterochromatin
            in human cells
  JOURNAL   Bioessays 38 (4), 333-343 (2016)
   PUBMED   26853531
  REMARK    GeneRIF: The haploid screen identified HUSH, an epigenetic
            heterochromatin repressor complex composed of three subunits,
            TASOR, MPP8 and Periphilin. (Review)
            Review article
REFERENCE   4  (residues 1 to 441)
  AUTHORS   Tchasovnikarova IA, Timms RT, Matheson NJ, Wals K, Antrobus R,
            Gottgens B, Dougan G, Dawson MA and Lehner PJ.
  TITLE     GENE SILENCING. Epigenetic silencing by the HUSH complex mediates
            position-effect variegation in human cells
  JOURNAL   Science 348 (6242), 1481-1485 (2015)
   PUBMED   26022416
  REMARK    GeneRIF: this study identified the HUSH (human silencing hub)
            complex, comprising three poorly characterized proteins, TASOR,
            MPP8, and periphilin; this complex is absent from Drosophila but is
            conserved from fish to humans.
REFERENCE   5  (residues 1 to 441)
  AUTHORS   Sia D, Losic B, Moeini A, Cabellos L, Hao K, Revill K, Bonal D,
            Miltiadous O, Zhang Z, Hoshida Y, Cornella H, Castillo-Martin M,
            Pinyol R, Kasai Y, Roayaie S, Thung SN, Fuster J, Schwartz ME,
            Waxman S, Cordon-Cardo C, Schadt E, Mazzaferro V and Llovet JM.
  TITLE     Massive parallel sequencing uncovers actionable FGFR2-PPHLN1 fusion
            and ARAF mutations in intrahepatic cholangiocarcinoma
  JOURNAL   Nat Commun 6, 6087 (2015)
   PUBMED   25608663
  REMARK    GeneRIF: analysis of FGFR2-PPHLN1 fusion and ARAF mutations in
            intrahepatic cholangiocarcinoma
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 441)
  AUTHORS   Kurita M, Suzuki H, Masai H, Mizumoto K, Ogata E, Nishimoto I, Aiso
            S and Matsuoka M.
  TITLE     Overexpression of CR/periphilin downregulates Cdc7 expression and
            induces S-phase arrest
  JOURNAL   Biochem Biophys Res Commun 324 (2), 554-561 (2004)
   PUBMED   15474462
  REMARK    GeneRIF: CR (periphilin) retards S-phase progression by modifying
            expression of Cdc7 and other genes involved in progression of DNA
            replication
REFERENCE   7  (residues 1 to 441)
  AUTHORS   Goehler H, Lalowski M, Stelzl U, Waelter S, Stroedicke M, Worm U,
            Droege A, Lindenberg KS, Knoblich M, Haenig C, Herbst M, Suopanki
            J, Scherzinger E, Abraham C, Bauer B, Hasenbank R, Fritzsche A,
            Ludewig AH, Bussow K, Coleman SH, Gutekunst CA, Landwehrmeyer BG,
            Lehrach H and Wanker EE.
  TITLE     A protein interaction network links GIT1, an enhancer of huntingtin
            aggregation, to Huntington's disease
  JOURNAL   Mol Cell 15 (6), 853-865 (2004)
   PUBMED   15383276
  REMARK    Erratum:[Mol Cell. 2005 Jul 22;19(2):287. Buessow, Konrad
            [corrected to Bussow, Konrad]]
REFERENCE   8  (residues 1 to 441)
  AUTHORS   Kazerounian S and Aho S.
  TITLE     Characterization of periphilin, a widespread, highly insoluble
            nuclear protein and potential constituent of the keratinocyte
            cornified envelope
  JOURNAL   J Biol Chem 278 (38), 36707-36717 (2003)
   PUBMED   12853457
  REMARK    GeneRIF: periphilin is potentially involved in epithelial
            differentiation and contributes to epidermal integrity and barrier
            formation
REFERENCE   9  (residues 1 to 441)
  AUTHORS   Kazerounian S, Uitto J and Aho S.
  TITLE     Unique role for the periplakin tail in intermediate filament
            association: specific binding to keratin 8 and vimentin
  JOURNAL   Exp Dermatol 11 (5), 428-438 (2002)
   PUBMED   12366696
REFERENCE   10 (residues 1 to 441)
  AUTHORS   Line A, Stengrevics A, Slucka Z, Li G, Jankevics E and Rees RC.
  TITLE     Serological identification and expression analysis of gastric
            cancer-associated genes
  JOURNAL   Br J Cancer 86 (11), 1824-1830 (2002)
   PUBMED   12087473
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079684.16 and AC079601.25.
            On Jul 12, 2018 this sequence version replaced XP_011536769.1.
            
            Summary: The protein encoded by this gene is one of the several
            proteins that become sequentially incorporated into the cornified
            cell envelope during the terminal differentiation of keratinocyte
            at the outer layers of epidermis. This protein interacts with
            periplakin, which is known as a precursor of the cornified cell
            envelope. The cellular localization pattern and insolubility of
            this protein suggest that it may play a role in epithelial
            differentiation and contribute to epidermal integrity and barrier
            formation. Multiple alternatively spliced transcript variants
            encoding distinct isoforms have been observed. [provided by RefSeq,
            Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.77762.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..441
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
     Protein         1..441
                     /product="periphilin-1 isoform 10"
                     /note="gastric cancer antigen Ga50; CDC7 expression
                     repressor"
                     /calculated_mol_wt=50446
     Region          237..>293
                     /region_name="periphilin-like"
                     /note="Vertebrate periphilin-1 and similar proteins;
                     cd22896"
                     /db_xref="CDD:439377"
     Region          <392..>427
                     /region_name="HERV-K_REC"
                     /note="Rec (regulator of expression encoded by corf) of
                     HERV-K-113; pfam15695"
                     /db_xref="CDD:292323"
     CDS             1..441
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /coded_by="NM_001364823.2:106..1431"
                     /note="isoform 10 is encoded by transcript variant 10"
                     /db_xref="GeneID:51535"
                     /db_xref="HGNC:HGNC:19369"
                     /db_xref="MIM:608150"
ORIGIN      
        1 mayrrdemws egryeyerip rerapprshp sdesgyrwtr ddhsasrqpe yrdmrdgfrr
       61 ksfysshyar erspykrdnt ffrespvgrk dsphsrsgss vssrsysper sksysfhqsq
      121 hrksvrpgas ykrqnegnpe rdkerpvqsl ktsrdtspss gsavssskvl dkpsrlteke
      181 laeaaskwaa ekleksdesn lpeiseyeag staplftdqp eepesntthg ielfedsqlt
      241 trskaiaskt keieqvyrqd cetfgmvvkm liekdpslek siqfalrqnl heiesagqtw
      301 qqvppvrnte mdhdgtpene geetaqsalf gfqhdasnht ivglgpnqvp emkettlqap
      361 qppqapqplq prkkrvrrtt qlrrttgapd itwgmlkktt qeaerillrt qtpftpenlf
      421 lamlsvvhcn srkdvkpenk q
//
LOCUS       NP_001191434            1100 aa            linear   PRI 26-DEC-2022
DEFINITION  diacylglycerol kinase eta isoform 3 [Homo sapiens].
ACCESSION   NP_001191434
VERSION     NP_001191434.1
DBSOURCE    REFSEQ: accession NM_001204505.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1100)
  AUTHORS   Sharma P, Yadav SK, Shah SD, Javed E, Lim JM, Pan S, Nayak AP,
            Panettieri RA Jr, Penn RB, Kambayashi T and Deshpande DA.
  TITLE     Diacylglycerol Kinase Inhibition Reduces Airway Contraction by
            Negative Feedback Regulation of Gq-Signaling
  JOURNAL   Am J Respir Cell Mol Biol 65 (6), 658-671 (2021)
   PUBMED   34293268
  REMARK    GeneRIF: Diacylglycerol Kinase Inhibition Reduces Airway
            Contraction by Negative Feedback Regulation of Gq-Signaling.
REFERENCE   2  (residues 1 to 1100)
  AUTHORS   Matsumoto Y, Suzuki A, Shirata T, Takahashi N, Noto K, Goto K and
            Otani K.
  TITLE     Implication of the DGKH genotype in openness to experience, a
            premorbid personality trait of bipolar disorder
  JOURNAL   J Affect Disord 238, 539-541 (2018)
   PUBMED   29936393
  REMARK    GeneRIF: The present study shows that a bipolar-risk allele of DGKH
            is associated with higher openness to experience, providing further
            evidence for the implication of this gene in the etiology of
            bipolar disorder.
REFERENCE   3  (residues 1 to 1100)
  AUTHORS   Weissflog L, Becker N, Bossert N, Freudenberg F, Kittel-Schneider S
            and Reif A.
  TITLE     Expressional profile of the diacylglycerol kinase eta gene DGKH
  JOURNAL   Eur Arch Psychiatry Clin Neurosci 267 (5), 445-454 (2017)
   PUBMED   27085324
  REMARK    GeneRIF: This sstudy shown that the highest expression levels of
            DGKH in the human brain were found in the striatum.
REFERENCE   4  (residues 1 to 1100)
  AUTHORS   Gregersen NO, Lescai F, Liang J, Li Q, Als T, Buttenschon HN,
            Hedemand A, Biskopsto M, Wang J, Wang AG, Borglum AD, Mors O and
            Demontis D.
  TITLE     Whole-exome sequencing implicates DGKH as a risk gene for panic
            disorder in the Faroese population
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 171 (8), 1013-1022 (2016)
   PUBMED   27255576
  REMARK    GeneRIF: several single variants and genes showed strong
            association with Panic Disorders, where DGKH was found to be the
            strongest Panic Disorder associated gene. Interestingly DGKH has
            previously demonstrated genome-wide significant association with
            bipolar disorder as well as evidence of association to other mental
            disorders.
REFERENCE   5  (residues 1 to 1100)
  AUTHORS   Yasuda S, Kai M, Imai S, Takeishi K, Taketomi A, Toyota M, Kanoh H
            and Sakane F.
  TITLE     Diacylglycerol kinase eta augments C-Raf activity and B-Raf/C-Raf
            heterodimerization
  JOURNAL   J Biol Chem 284 (43), 29559-29570 (2009)
   PUBMED   19710016
  REMARK    GeneRIF: DGKeta acts as a novel critical regulatory component of
            the Ras/B-Raf/C-Raf/MEK/ERK signaling cascade via a previously
            unidentified mechanism.
REFERENCE   6  (residues 1 to 1100)
  AUTHORS   Tesli M, Kahler AK, Andreassen BK, Werge T, Mors O, Mellerup E,
            Koefoed P, Melle I, Morken G, Wirgenes KV, Andreassen OA and
            Djurovic S.
  TITLE     No association between DGKH and bipolar disorder in a Scandinavian
            case-control sample
  JOURNAL   Psychiatr Genet 19 (5), 269-272 (2009)
   PUBMED   19478689
  REMARK    GeneRIF: No significant association after multiple-testing
            correction between any of the single nucleotide polymorphisms in
            DGKH and bipolar disorder, was found.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 1100)
  AUTHORS   Baum AE, Akula N, Cabanero M, Cardona I, Corona W, Klemens B,
            Schulze TG, Cichon S, Rietschel M, Nothen MM, Georgi A, Schumacher
            J, Schwarz M, Abou Jamra R, Hofels S, Propping P, Satagopan J,
            Detera-Wadleigh SD, Hardy J and McMahon FJ.
  TITLE     A genome-wide association study implicates diacylglycerol kinase
            eta (DGKH) and several other genes in the etiology of bipolar
            disorder
  JOURNAL   Mol Psychiatry 13 (2), 197-207 (2008)
   PUBMED   17486107
  REMARK    GeneRIF: diacylglycerol kinase eta (DGKH) is association in the
            etiology of bipolar disorder.
            GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (residues 1 to 1100)
  AUTHORS   Murakami T, Sakane F, Imai S, Houkin K and Kanoh H.
  TITLE     Identification and characterization of two splice variants of human
            diacylglycerol kinase eta
  JOURNAL   J Biol Chem 278 (36), 34364-34372 (2003)
   PUBMED   12810723
  REMARK    GeneRIF: alternative splicing of the human DGK eta gene generates
            at least two isoforms with distinct biochemical and cell biological
            properties responding to different cellular metabolic requirements
REFERENCE   9  (residues 1 to 1100)
  AUTHORS   Sakane F and Kanoh H.
  TITLE     Molecules in focus: diacylglycerol kinase
  JOURNAL   Int J Biochem Cell Biol 29 (10), 1139-1143 (1997)
   PUBMED   9438377
  REMARK    Review article
REFERENCE   10 (residues 1 to 1100)
  AUTHORS   Klauck TM, Xu X, Mousseau B and Jaken S.
  TITLE     Cloning and characterization of a glucocorticoid-induced
            diacylglycerol kinase
  JOURNAL   J Biol Chem 271 (33), 19781-19788 (1996)
   PUBMED   8702685
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK302727.1, BC043292.2,
            AB078967.1, AL136527.9 and BM978856.1.
            
            Summary: This gene encodes a member of the diacylglycerol kinase
            (DGK) enzyme family. Members of this family are involved in
            regulating intracellular concentrations of diacylglycerol and
            phosphatidic acid. Variation in this gene has been associated with
            bipolar disorder. Alternatively spliced transcript variants have
            been identified. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (4) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and contains two alternate exons
            in the 3' coding region, which results in a frameshift, compared to
            variant 1. It initiates translation at a downstream in-frame start
            codon. The encoded isoform (3) has a shorter N-terminus and a
            distinct C-terminus, and is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC043292.2 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968968,
                                           SAMEA2148093 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1100
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     Protein         1..1100
                     /product="diacylglycerol kinase eta isoform 3"
                     /EC_number="2.7.1.107"
                     /note="DAG kinase eta; diglyceride kinase eta"
                     /calculated_mol_wt=122261
     Region          11..96
                     /region_name="C1_DGKeta_rpt1"
                     /note="first protein kinase C conserved region 1 (C1
                     domain) found in diacylglycerol kinase eta (DAG kinase
                     eta) and similar proteins; cd20848"
                     /db_xref="CDD:410398"
     Site            order(40,53,56,70,73,78,81,89)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:410398"
     Region          107..168
                     /region_name="C1_DGKeta_rpt2"
                     /note="second protein kinase C conserved region 1 (C1
                     domain) found in diacylglycerol kinase eta (DAG kinase
                     eta) and similar proteins; cd20894"
                     /db_xref="CDD:410444"
     Region          198..320
                     /region_name="DAGKc"
                     /note="Diacylglycerol kinase catalytic domain (presumed);
                     smart00046"
                     /db_xref="CDD:214487"
     Region          634..791
                     /region_name="DAGKa"
                     /note="Diacylglycerol kinase accessory domain (presumed);
                     smart00045"
                     /db_xref="CDD:214486"
     Region          1011..1091
                     /region_name="SAM_superfamily"
                     /note="SAM (Sterile alpha motif); cl15755"
                     /db_xref="CDD:449586"
     CDS             1..1100
                     /gene="DGKH"
                     /gene_synonym="DGKeta"
                     /coded_by="NM_001204505.3:117..3419"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS55898.1"
                     /db_xref="GeneID:160851"
                     /db_xref="HGNC:HGNC:2854"
                     /db_xref="MIM:604071"
ORIGIN      
        1 mlcaenrkem edwisslksv qtrepyevaq fnvehfsgmh nwyacsharp tfcnvcresl
       61 sgvtshglsc evckfkahkr cavratnnck wttlasigkd iiededgvam phqwlegnlp
      121 vsakcavcdk tcgsvlrlqd wkclwcktmv htackdlyhp icplgqckvs iippialnst
      181 dsdgfcratf sfcvspllvf vnsksgdnqg vkflrrfkql lnpaqvfdlm nggphlglrl
      241 fqkfdnfril vcggdgsvgw vlseidklnl nkqcqlgvlp lgtgndlarv lgwggsyddd
      301 tqlpqilekl erastkmldr wsimtyelkl ppkasllpgp peaseefymt iyedsvathl
      361 tkilnsdeha vvissaktlc etvkdfvakv ektydktlen avvadavask csvlnekleq
      421 llqalhtdsq aapvlpglsp liveedaves sseeslgesk eqlgddvtkp ssqkavkpre
      481 imlranslkk avrqvieeag kvmddptvhp cepanqssdy dstetdeske eakddgakes
      541 itvktaprsp darasyghsq tdsvpgpava askenlpvln triicpglra glaasiagss
      601 iinkmllani dpfgatpfid pdldsvdgys ekcvmnnyfg igldakisle fnnkreehpe
      661 kcrsrtknlm wygvlgtrel lqrsyknleq rvqlecdgqy iplpslqgia vlnipsyagg
      721 tnfwggtked difaapsfdd kilevvaifd smqmavsrvi klqhhriaqc rtvkitifgd
      781 egvpvqvdge awvqppgiik ivhknraqml trdrafestl kswedkqkcd sgkpvlrthl
      841 yihhaidlat eevsqmqlcs qaaeelitri cdaatihcll eqelahavna cshalnkanp
      901 rcpesltrdt ateiainvka lynetesllv grvplqlesp heervsnalh svevelqklt
      961 eipwlyyilh pnedeeppmd ctkrnnrstv frivpkfkke kvqkqktssq pvqkwgteev
     1021 aawldllnlg eykdifirhd irgaellhle rrdlkntvge krdtkengkh mdlgipkvgh
     1081 vkrilqgike lgrstpqsev
//
LOCUS       NP_001258765             630 aa            linear   PRI 27-DEC-2022
DEFINITION  coiled-coil domain-containing protein 120 isoform 3 [Homo sapiens].
ACCESSION   NP_001258765
VERSION     NP_001258765.1
DBSOURCE    REFSEQ: accession NM_001271836.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 630)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 630)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 630)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (residues 1 to 630)
  AUTHORS   Huang N, Xia Y, Zhang D, Wang S, Bao Y, He R, Teng J and Chen J.
  TITLE     Hierarchical assembly of centriole subdistal appendages via
            centrosome binding proteins CCDC120 and CCDC68
  JOURNAL   Nat Commun 8, 15057 (2017)
   PUBMED   28422092
  REMARK    GeneRIF: centrosome-binding proteins, coiled-coil domain containing
            (CCDC) 120 and CCDC68 are two novel subdistal appendages (SDA)
            components required for hierarchical SDA assembly in human cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 630)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam
            S, MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 630)
  AUTHORS   Torii T, Miyamoto Y, Tago K, Sango K, Nakamura K, Sanbe A, Tanoue A
            and Yamauchi J.
  TITLE     Arf6 guanine nucleotide exchange factor cytohesin-2 binds to
            CCDC120 and is transported along neurites to mediate neurite growth
  JOURNAL   J Biol Chem 289 (49), 33887-33903 (2014)
   PUBMED   25326380
  REMARK    GeneRIF: Arf6 guanine nucleotide exchange factor cytohesin-2 binds
            to CCDC120 and is transported along neurites to mediate neurite
            growth.
REFERENCE   7  (residues 1 to 630)
  AUTHORS   Xin X, Rual JF, Hirozane-Kishikawa T, Hill DE, Vidal M, Boone C and
            Thierry-Mieg N.
  TITLE     Shifted Transversal Design smart-pooling for high coverage
            interactome mapping
  JOURNAL   Genome Res 19 (7), 1262-1269 (2009)
   PUBMED   19447967
REFERENCE   8  (residues 1 to 630)
  AUTHORS   Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C,
            O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M,
            Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J,
            Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M,
            Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray
            P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd
            R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de
            Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers
            HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau
            J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan
            E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF,
            Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE,
            Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA and
            Stratton MR.
  TITLE     A systematic, large-scale resequencing screen of X-chromosome
            coding exons in mental retardation
  JOURNAL   Nat Genet 41 (5), 535-543 (2009)
   PUBMED   19377476
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291370.1 and BC008769.2.
            
            Summary: This gene encodes a protein that contains a coiled-coil
            domain. Several alternatively spliced transcript variants encoding
            multiple isoforms have been found for this gene. [provided by
            RefSeq, Nov 2012].
            
            Transcript Variant: This variant (6) differs in the 5' UTR and
            coding sequence and differs in the 3' UTR and coding sequence
            compared to variant 1. The resulting isoform (3) is shorter at the
            N-terminus and has a shorter and distinct C-terminus compared to
            isoform 1. Variants 3, 5, and 6 all encode the same isoform (3).
            
            ##Evidence-Data-START##
            CDS exon combination :: AK291370.1, SRR14038195.858675.1
                                    [ECO:0000331]
            RNAseq introns       :: partial sample support SAMEA1966682,
                                    SAMEA1968540 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..630
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     Protein         1..630
                     /product="coiled-coil domain-containing protein 120
                     isoform 3"
                     /note="coiled-coil domain-containing protein 120"
                     /calculated_mol_wt=67437
     Region          2..141
                     /region_name="DUF3338"
                     /note="Domain of unknown function (DUF3338); pfam11819"
                     /db_xref="CDD:432099"
     Region          31..70
                     /region_name="Involved in CYTH2-binding.
                     /evidence=ECO:0000269|PubMed:25326380"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96HB5.1)"
     Region          212..435
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96HB5.1)"
     Site            358
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96HB5.1)"
     Site            360
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96HB5.1)"
     Site            435
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:A2AEV7; propagated from
                     UniProtKB/Swiss-Prot (Q96HB5.1)"
     Region          457..534
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96HB5.1)"
     CDS             1..630
                     /gene="CCDC120"
                     /gene_synonym="JM11"
                     /coded_by="NM_001271836.2:508..2400"
                     /note="isoform 3 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS14316.1"
                     /db_xref="GeneID:90060"
                     /db_xref="HGNC:HGNC:28910"
                     /db_xref="MIM:300947"
ORIGIN      
        1 mevkgqliss ptfnapaalf geaapqvkse rlrglldrqr tlqealslkl qelrkvclqe
       61 aeltgqlppe cplepgerpq lvrrrpptar ayppphpnqa hhslcpaeel alealerevs
      121 vqqqiaaaar rlalapdlst eqrrrrrqvq adalrrlhel eeqlrdvrar lglpvlplpq
      181 plplstgsvi ttqgvclgmr laqlsqedvv lhsessslse sgashdneep hgcfslaerp
      241 sppkawdqlr avsggsperr tpwkpppsdl ygdlksrrns vasptsptrs lprsassfeg
      301 rsvpatpvlt rgagpqlckp eglhsrqwsg sqdsqmgfpr adpasdrasl fvartrrsns
      361 seallvdraa gggagsppap lapsasgppv ckssevlyer pqptpafssr tagppdppra
      421 arpssaapas rgaprlppvc gdflldysld rglprsgggt gwgelppaae vpgplsrrdg
      481 lltmlpgppp vyaadsnspl lrtkdphtra trtkpcglpp eaaegpevhp npllwmpppt
      541 ripsagersg hknlaleglr dwyirnsgla agpqrrpvlp svgpphppfl harcyevgqa
      601 lygapsqapl phsrsftapp vsgryggcfy
//
LOCUS       NP_001157956             283 aa            linear   PRI 28-DEC-2022
DEFINITION  protein FAM170B [Homo sapiens].
ACCESSION   NP_001157956 XP_001715167 XP_096317 XP_942621
VERSION     NP_001157956.1
DBSOURCE    REFSEQ: accession NM_001164484.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 283)
  AUTHORS   Devlin DJ, Nozawa K, Ikawa M and Matzuk MM.
  TITLE     Knockout of family with sequence similarity 170 member A (Fam170a)
            causes male subfertility, while Fam170b is dispensable in
            micedagger
  JOURNAL   Biol Reprod 103 (2), 205-222 (2020)
   PUBMED   32588889
  REMARK    GeneRIF: Knockout of family with sequence similarity 170 member A
            (Fam170a) causes male subfertility, while Fam170b is dispensable in
            micedagger.
REFERENCE   2  (residues 1 to 283)
  AUTHORS   Li Y, Lin S, Luo M, Guo H, Chen J, Ma Q, Gu Y, Jiang Z and Gui Y.
  TITLE     FAM170B, a novel acrosomal protein involved in fertilization in
            mice
  JOURNAL   Mol Reprod Dev 82 (10), 787-796 (2015)
   PUBMED   26179146
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC084727.14.
            On or before Aug 29, 2009 this sequence version replaced
            XP_001715167.1, XP_942621.1, XP_096317.6.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC047597.1, BI827656.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311787.6/ ENSP00000308292.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..283
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.23"
     Protein         1..283
                     /product="protein FAM170B"
                     /note="putative protein FAM170B; acrosome-related protein"
                     /calculated_mol_wt=31961
     Region          1..58
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMN3.1)"
     Region          <169..240
                     /region_name="Spt46"
                     /note="Spermatogenesis-associated protein 46; pfam17734"
                     /db_xref="CDD:375300"
     Region          246..283
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMN3.1)"
     CDS             1..283
                     /gene="FAM170B"
                     /gene_synonym="C10orf73"
                     /coded_by="NM_001164484.2:104..955"
                     /db_xref="CCDS:CCDS53536.1"
                     /db_xref="GeneID:170370"
                     /db_xref="HGNC:HGNC:19736"
ORIGIN      
        1 mkcyftdhrg eqsptdgttl sltspestee svevfwpgti qregssprpg paipreegly
       61 faardrgmrd wssspssess eyqsysqyqs ccscmcdedn aapqsvcafy thvqtvrgva
      121 vaweteagfe pvtrkprihe aqfikrqrwn gssfemasnt dmrwdleack sncspepedi
      181 dllecclqel reppdwlvtt nygvrcvacc rvlpsldall ehaqhgireg fscqiffeem
      241 lerrraqgqa hdqqleeeqs psdnsecsrp qgevlsaqqq ekq
//
LOCUS       NP_001364430             397 aa            linear   PRI 28-DEC-2022
DEFINITION  EF-hand and coiled-coil domain-containing protein 1 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001364430
VERSION     NP_001364430.1
DBSOURCE    REFSEQ: accession NM_001377501.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 397)
  AUTHORS   Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ,
            Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris
            RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM,
            Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A,
            Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ,
            Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang
            Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z,
            Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C,
            Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay
            ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X,
            Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M,
            Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV,
            Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper
            FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez
            J, Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L,
            Wang J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang
            X, Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor
            SL, Yang H, Olson M, Weinstock G and Gibbs RA.
  TITLE     The DNA sequence, annotation and analysis of human chromosome 3
  JOURNAL   Nature 440 (7088), 1194-1198 (2006)
   PUBMED   16641997
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC112484.8.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138524.253430.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2147920
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..397
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.3"
     Protein         1..397
                     /product="EF-hand and coiled-coil domain-containing
                     protein 1 isoform 3"
                     /note="coiled-coil domain-containing protein 48; EF-hand
                     domain-containing protein ENSP00000381169; coiled-coil
                     domain containing 48; EF-hand and coiled-coil
                     domain-containing protein 1"
                     /calculated_mol_wt=43935
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HA90.2)"
     Region          18..>327
                     /region_name="CCD48"
                     /note="Coiled-coil domain-containing protein 48;
                     pfam15799"
                     /db_xref="CDD:434946"
     Region          96..127
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HA90.2)"
     Region          175..198
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HA90.2)"
     CDS             1..397
                     /gene="EFCC1"
                     /gene_synonym="C3orf73; CCDC48"
                     /coded_by="NM_001377501.1:326..1519"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:79825"
                     /db_xref="HGNC:HGNC:25692"
ORIGIN      
        1 mepvstgaea gmegaggdpy rrparrtqwl lsalahhygl drgveneivv latgldqylq
       61 evfhhldcrg agrlpradfr alcavlglra egattagqaa gdgnsrdvtp gdaaaelatd
      121 gdsdtdeear lalraeppel tfrqfharlc gyfgtragpr lprgalsehi etqirlrrpr
      181 rrrrppcapg pdsgpdcerv arleeenssl relvedlraa lqssdarcla lqvglwksqa
      241 sthemghggp eaavrelrqa qgalaaaear agrlrrgqae vrrraeearq vvlrslhrvr
      301 elealaqqvp glqrwvrrle aelqryrfkr fsclslpiag ikdachhaqv vsskerissh
      361 iricylptrr hwkkrpvpgw rpglscssrr asvrtft
//
LOCUS       NP_001371572             197 aa            linear   PRI 28-DEC-2022
DEFINITION  V-set and transmembrane domain-containing protein 2B isoform 5
            [Homo sapiens].
ACCESSION   NP_001371572 XP_005258913
VERSION     NP_001371572.1
DBSOURCE    REFSEQ: accession NM_001384643.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 197)
  AUTHORS   Wade TD, Gordon S, Medland S, Bulik CM, Heath AC, Montgomery GW and
            Martin NG.
  TITLE     Genetic variants associated with disordered eating
  JOURNAL   Int J Eat Disord 46 (6), 594-608 (2013)
   PUBMED   23568457
REFERENCE   2  (residues 1 to 197)
  AUTHORS   Grassi MA, Tikhomirov A, Ramalingam S, Below JE, Cox NJ and Nicolae
            DL.
  TITLE     Genome-wide meta-analysis for severe diabetic retinopathy
  JOURNAL   Hum Mol Genet 20 (12), 2472-2481 (2011)
   PUBMED   21441570
REFERENCE   3  (residues 1 to 197)
  AUTHORS   Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G,
            Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK,
            Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek
            WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT,
            McManus R, van Heel DA and Wijmenga C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 197)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A,
            Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel
            S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA,
            Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J,
            Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M,
            Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W,
            Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V,
            Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready
            P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S,
            Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer
            J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D,
            Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo
            N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS,
            DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA,
            Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM and Lucas
            SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011474.6.
            On Jun 23, 2020 this sequence version replaced XP_005258913.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1051832.1,
                                           SRR14372080.4472957.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..197
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q12"
     Protein         1..197
                     /product="V-set and transmembrane domain-containing
                     protein 2B isoform 5"
                     /note="V-set and transmembrane domain-containing protein
                     2B"
                     /calculated_mol_wt=20300
     Region          <8..51
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     CDS             1..197
                     /gene="VSTM2B"
                     /coded_by="NM_001384643.1:165..758"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:342865"
                     /db_xref="HGNC:HGNC:33595"
ORIGIN      
        1 mtkpprglgs etvrvqgndi shrlrlsavr lqdegvyecr vsdysdddtq ehkaqamlrv
       61 lsrfappnmq aaeavshiqs sgprrhgpas aanannagaa srttsepgrg dkspppgspp
      121 aaidpavpea aaasaahtpt ttvaaaaaas sasppsgqav llrqrhgsgt grsyttdpll
      181 sllllalhkf lrlllgh
//
LOCUS       NP_001284699              68 aa            linear   PRI 28-DEC-2022
DEFINITION  28S ribosomal protein S18c, mitochondrial isoform 4 [Homo sapiens].
ACCESSION   NP_001284699
VERSION     NP_001284699.1
DBSOURCE    REFSEQ: accession NM_001297770.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 68)
  AUTHORS   Kovalevska LM, Malysheva TA, Kalman SS, Rozumenko AV, Verbova LV,
            Rozumenko VD and Kashuba EV.
  TITLE     Expression pattern of MRPS18 family genes in gliomas
  JOURNAL   Exp Oncol 43 (3), 204-208 (2021)
   PUBMED   34591434
  REMARK    GeneRIF: Expression pattern of MRPS18 family genes in gliomas.
REFERENCE   2  (residues 1 to 68)
  AUTHORS   Rodriguez-Garcia ME, Cotrina-Vinagre FJ, Carnicero-Rodriguez P and
            Martinez-Azorin F.
  TITLE     An innovative strategy to clone positive modifier genes of defects
            caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A
            mutation in MT-ND1 gene
  JOURNAL   Hum Genet 136 (7), 885-896 (2017)
   PUBMED   28526948
  REMARK    GeneRIF: Overexpression of MRPS18C gene (that encode for bS18m
            protein) suppressed the molecular defects produced by this mtDNA
            mutation, recovering the complex I activity and reducing the
            reactive oxygen species produced by this complex to normal levels.
REFERENCE   3  (residues 1 to 68)
  AUTHORS   Greber BJ and Ban N.
  TITLE     Structure and Function of the Mitochondrial Ribosome
  JOURNAL   Annu Rev Biochem 85, 103-132 (2016)
   PUBMED   27023846
  REMARK    Review article
REFERENCE   4  (residues 1 to 68)
  AUTHORS   Amunts A, Brown A, Toots J, Scheres SHW and Ramakrishnan V.
  TITLE     Ribosome. The structure of the human mitochondrial ribosome
  JOURNAL   Science 348 (6230), 95-98 (2015)
   PUBMED   25838379
REFERENCE   5  (residues 1 to 68)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 68)
  AUTHORS   Zhang Z and Gerstein M.
  TITLE     Identification and characterization of over 100 mitochondrial
            ribosomal protein pseudogenes in the human genome
  JOURNAL   Genomics 81 (5), 468-480 (2003)
   PUBMED   12706105
REFERENCE   7  (residues 1 to 68)
  AUTHORS   Cavdar Koc E, Burkhart W, Blackburn K, Moseley A and Spremulli LL.
  TITLE     The small subunit of the mammalian mitochondrial ribosome.
            Identification of the full complement of ribosomal proteins present
  JOURNAL   J Biol Chem 276 (22), 19363-19374 (2001)
   PUBMED   11279123
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CA455563.1, AF151892.1 and
            AC096768.3.
            
            Summary: Mammalian mitochondrial ribosomal proteins are encoded by
            nuclear genes and help in protein synthesis within the
            mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a
            small 28S subunit and a large 39S subunit. They have an estimated
            75% protein to rRNA composition compared to prokaryotic ribosomes,
            where this ratio is reversed. Another difference between mammalian
            mitoribosomes and prokaryotic ribosomes is that the latter contain
            a 5S rRNA. Among different species, the proteins comprising the
            mitoribosome differ greatly in sequence, and sometimes in
            biochemical properties, which prevents easy recognition by sequence
            homology. This gene encodes a 28S subunit protein that belongs to
            the ribosomal protein S18P family. The encoded protein is one of
            three that has significant sequence similarity to bacterial S18
            proteins. The primary sequences of the three human mitochondrial
            S18 proteins are no more closely related to each other than they
            are to the prokaryotic S18 proteins. Pseudogenes corresponding to
            this gene are found on chromosomes 8p, 12p, 15q, and 22q. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (4) lacks two consecutive exons in
            the central coding region, which leads to a frameshift, compared to
            variant 1. The encoded isoform (4) has a shorter and distinct
            C-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1970548.1,
                                           SRR1803615.109126.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..68
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.23"
     Protein         1..68
                     /product="28S ribosomal protein S18c, mitochondrial
                     isoform 4"
                     /note="mitochondrial ribosomal protein S18-1; 28S
                     ribosomal protein S18c, mitochondrial; 28S ribosomal
                     protein S18-1, mitochondrial; mitochondrial small
                     ribosomal subunit protein bS18m-C; mitochondrial small
                     ribosomal subunit protein bS18c"
                     /calculated_mol_wt=7323
     CDS             1..68
                     /gene="MRPS18C"
                     /gene_synonym="CGI-134; MRP-S18-1; MRP-S18-c; MRPS18-1;
                     mrps18-c; S18mt-c"
                     /coded_by="NM_001297770.2:21..227"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS77933.1"
                     /db_xref="GeneID:51023"
                     /db_xref="HGNC:HGNC:16633"
                     /db_xref="MIM:611983"
ORIGIN      
        1 maavvavcgg lgrkklthlv taavslthpg thtvlwrrgc sqqvssnedl vfvgrnrkks
       61 qkqlrelk
//
LOCUS       NP_001372595             122 aa            linear   PRI 29-DEC-2022
DEFINITION  serum amyloid A-2 protein isoform a preproprotein [Homo sapiens].
ACCESSION   NP_001372595
VERSION     NP_001372595.1
DBSOURCE    REFSEQ: accession NM_001385666.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 122)
  AUTHORS   Smole U, Gour N, Phelan J, Hofer G, Kohler C, Kratzer B, Tauber PA,
            Xiao X, Yao N, Dvorak J, Caraballo L, Puerta L, Rosskopf S, Chakir
            J, Malle E, Lane AP, Pickl WF, Lajoie S and Wills-Karp M.
  TITLE     Serum amyloid A is a soluble pattern recognition receptor that
            drives type 2 immunity
  JOURNAL   Nat Immunol 21 (7), 756-765 (2020)
   PUBMED   32572240
  REMARK    GeneRIF: Serum amyloid A is a soluble pattern recognition receptor
            that drives type 2 immunity.
REFERENCE   2  (residues 1 to 122)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 122)
  AUTHORS   Zheng H, Li H, Zhang J, Fan H, Jia L, Ma W, Ma S, Wang S, You H,
            Yin Z and Li X.
  TITLE     Serum amyloid A exhibits pH dependent antibacterial action and
            contributes to host defense against Staphylococcus aureus cutaneous
            infection
  JOURNAL   J Biol Chem 295 (9), 2570-2581 (2020)
   PUBMED   31819008
  REMARK    GeneRIF: SAA2 displays antimicrobial activity against S. aureus and
            E. coli.
REFERENCE   4  (residues 1 to 122)
  AUTHORS   Jumeau C, Awad F, Assrawi E, Cobret L, Duquesnoy P, Giurgea I,
            Valeyre D, Grateau G, Amselem S, Bernaudin JF and Karabina SA.
  TITLE     Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes
            and monocyte-derived macrophages
  JOURNAL   PLoS One 14 (5), e0217005 (2019)
   PUBMED   31100086
  REMARK    GeneRIF: after stimulation by various pro-inflammatory conditions,
            changes in SAA1, SAA2 and SAA4 gene expression at both the
            transcriptional and protein levels were evaluated during maturation
            of freshly collected human monocytes into macrophages.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 122)
  AUTHORS   Yildirim Cetin G, Ganiyusufoglu E, Solmaz D, Cagatay Y, Yilmaz Oner
            S, Erer B, Sagliker HS, Avci AB, Akar S, Pamuk ON, Kilinc M,
            Kasifoglu T, Direskeneli H, Gul A and Sayarlioglu M.
  TITLE     The rate and significance of type 1/type 2 serum amyloid A protein
            gene polymorphisms in patients with ankylosing spondylitis and
            amyloidosis
  JOURNAL   Amyloid 22 (3), 207-208 (2015)
   PUBMED   26300108
  REMARK    GeneRIF: The prevalence of the SAA2 polymorphisms (rs 2445174 and
            rs2468844) did not differ significantly between the groups of
            ankylosing spondylitis patients with and without amyloidosis.
REFERENCE   6  (residues 1 to 122)
  AUTHORS   Prakash T, Sharma VK, Adati N, Ozawa R, Kumar N, Nishida Y,
            Fujikake T, Takeda T and Taylor TD.
  TITLE     Expression of conjoined genes: another mechanism for gene
            regulation in eukaryotes
  JOURNAL   PLoS One 5 (10), e13284 (2010)
   PUBMED   20967262
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 122)
  AUTHORS   Betts JC, Edbrooke MR, Thakker RV and Woo P.
  TITLE     The human acute-phase serum amyloid A gene family: structure,
            evolution and expression in hepatoma cells
  JOURNAL   Scand J Immunol 34 (4), 471-482 (1991)
   PUBMED   1656519
REFERENCE   8  (residues 1 to 122)
  AUTHORS   Zimlichman S, Danon A, Nathan I, Mozes G and Shainkin-Kestenbaum R.
  TITLE     Serum amyloid A, an acute phase protein, inhibits platelet
            activation
  JOURNAL   J Lab Clin Med 116 (2), 180-186 (1990)
   PUBMED   1697614
REFERENCE   9  (residues 1 to 122)
  AUTHORS   Steinkasserer A, Weiss EH, Schwaeble W and Linke RP.
  TITLE     Heterogeneity of human serum amyloid A protein. Five different
            variants from one individual demonstrated by cDNA sequence analysis
  JOURNAL   Biochem J 268 (1), 187-193 (1990)
   PUBMED   1971508
REFERENCE   10 (residues 1 to 122)
  AUTHORS   Woo P, Sipe J, Dinarello CA and Colten HR.
  TITLE     Structure of a human serum amyloid A gene and modulation of its
            expression in transfected L cells
  JOURNAL   J Biol Chem 262 (32), 15790-15795 (1987)
   PUBMED   2890635
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090099.14.
            
            Summary: This gene encodes a member of the serum amyloid A family
            of apolipoproteins. The encoded preproprotein is proteolytically
            processed to generate the mature protein. This protein is a major
            acute phase protein that is highly expressed in response to
            inflammation and tissue injury. This protein also plays an
            important role in HDL metabolism and cholesterol homeostasis. High
            levels of this protein are associated with chronic inflammatory
            diseases including atherosclerosis, rheumatoid arthritis,
            Alzheimer's disease and Crohn's disease. This protein may also be a
            potential biomarker for certain tumors. Finally, antimicrobial
            activity against S. aureus and E. coli resides in the N-terminal
            portion of the mature protein. [provided by RefSeq, Jul 2020].
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (a). Variants 1 and 3
            both encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BG563576.1, SRR5189658.82491.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162895, SAMN04284274
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            Protein has antimicrobial activity :: PMID: 31819008
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..122
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     Protein         1..122
                     /product="serum amyloid A-2 protein isoform a
                     preproprotein"
                     /note="serum amyloid A-2 protein; Serum amyloid A-1
                     protein"
                     /calculated_mol_wt=11648
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1897
     mat_peptide     19..122
                     /product="Serum amyloid A-2 protein. /id=PRO_0000418061"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DJI9.1)"
                     /calculated_mol_wt=11648
     mat_peptide     19..94
                     /product="Amyloid A2 protein.
                     /evidence=ECO:0000269|PubMed:1463770. /id=PRO_0000450359"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DJI9.1)"
                     /calculated_mol_wt=8513
     mat_peptide     25..122
                     /product="This protein has antimicrobial activity."
                     /name="serum amyloid antimicrobial protein"
                     /calculated_mol_wt=10876
     Region          25..122
                     /region_name="SAA"
                     /note="Serum amyloid A protein; pfam00277"
                     /db_xref="CDD:425576"
     Region          88..122
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DJI9.1)"
     CDS             1..122
                     /gene="SAA2"
                     /gene_synonym="SAA; SAA1"
                     /coded_by="NM_001385666.1:132..500"
                     /note="isoform a preproprotein is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS7833.1"
                     /db_xref="GeneID:6289"
                     /db_xref="HGNC:HGNC:10514"
                     /db_xref="MIM:104751"
ORIGIN      
        1 mklltglvfc slvlsvssrs ffsflgeafd gardmwrays dmreanyigs dkyfhargny
       61 daakrgpgga waaevisnar eniqrltgrg aedsladqaa nkwgrsgrdp nhfrpaglpe
      121 ky
//
LOCUS       NP_001369178             121 aa            linear   PRI 29-DEC-2022
DEFINITION  intraflagellar transport protein 25 homolog isoform b [Homo
            sapiens].
ACCESSION   NP_001369178
VERSION     NP_001369178.1
DBSOURCE    REFSEQ: accession NM_001382249.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 121)
  AUTHORS   Zhou Z, Qiu H, Castro-Araya RF, Takei R, Nakayama K and Katoh Y.
  TITLE     Impaired cooperation between IFT74/BBS22-IFT81 and
            IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome
  JOURNAL   Hum Mol Genet 31 (10), 1681-1693 (2022)
   PUBMED   34888642
  REMARK    GeneRIF: Impaired cooperation between IFT74/BBS22-IFT81 and
            IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.
REFERENCE   2  (residues 1 to 121)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 121)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 121)
  AUTHORS   Katoh Y, Terada M, Nishijima Y, Takei R, Nozaki S, Hamada H and
            Nakayama K.
  TITLE     Overall Architecture of the Intraflagellar Transport (IFT)-B
            Complex Containing Cluap1/IFT38 as an Essential Component of the
            IFT-B Peripheral Subcomplex
  JOURNAL   J Biol Chem 291 (21), 10962-10975 (2016)
   PUBMED   26980730
REFERENCE   5  (residues 1 to 121)
  AUTHORS   Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y,
            van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ,
            Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ,
            Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B,
            Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM,
            Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E,
            Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ,
            Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U,
            Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB and
            Roepman R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 121)
  AUTHORS   Follit JA, Xu F, Keady BT and Pazour GJ.
  TITLE     Characterization of mouse IFT complex B
  JOURNAL   Cell Motil Cytoskeleton 66 (8), 457-468 (2009)
   PUBMED   19253336
REFERENCE   7  (residues 1 to 121)
  AUTHORS   Pozsgai E, Gomori E, Szigeti A, Boronkai A, Gallyas F Jr, Sumegi B
            and Bellyei S.
  TITLE     Correlation between the progressive cytoplasmic expression of a
            novel small heat shock protein (Hsp16.2) and malignancy in brain
            tumors
  JOURNAL   BMC Cancer 7, 233 (2007)
   PUBMED   18154656
  REMARK    GeneRIF: Hsp16.2 expression is directly correlated with the
            histological grade of brain tumors.
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 121)
  AUTHORS   Bellyei S, Szigeti A, Pozsgai E, Boronkai A, Gomori E, Hocsak E,
            Farkas R, Sumegi B and Gallyas F Jr.
  TITLE     Preventing apoptotic cell death by a novel small heat shock protein
  JOURNAL   Eur J Cell Biol 86 (3), 161-171 (2007)
   PUBMED   17275951
  REMARK    GeneRIF: These data suggest that Hsp16.2 can prevent the
            destabilization of mitochondrial membrane systems and could
            represent a suitable target for modulating cell death pathways.
REFERENCE   9  (residues 1 to 121)
  AUTHORS   Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and
            Morton CC.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
REFERENCE   10 (residues 1 to 121)
  AUTHORS   Bohn H and Winckler W.
  TITLE     Isolation and characterization of five new soluble placental tissue
            proteins (PP22, PP23, PP24, PP25, PP26)
  JOURNAL   Arch Gynecol Obstet 248 (3), 111-115 (1991)
   PUBMED   2018407
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL031427.15.
            
            Transcript Variant: This variant (5), as well as variant 6, encodes
            isoform b.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14243140.6562050.1,
                                           DRR138512.211955.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..121
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     Protein         1..121
                     /product="intraflagellar transport protein 25 homolog
                     isoform b"
                     /note="intraflagellar transport 25 homolog; heat shock
                     protein beta-11; placental protein 25; intraflagellar
                     transport protein 25 homolog; heat shock protein family B
                     (small), member 11; heat shock protein family B (small)
                     member 11"
                     /calculated_mol_wt=13421
     Region          19..>65
                     /region_name="F5_F8_type_C"
                     /note="F5/8 type C domain; pfam00754"
                     /db_xref="CDD:425852"
     CDS             1..121
                     /gene="IFT25"
                     /gene_synonym="C1orf41; CFAP232; FAP232; HSPB11; HSPCO34;
                     PP25"
                     /coded_by="NM_001382249.1:85..450"
                     /note="isoform b is encoded by transcript variant 5"
                     /db_xref="GeneID:51668"
                     /db_xref="HGNC:HGNC:25019"
ORIGIN      
        1 mrkidlclss egsevilats sdekhppeni idgnpetfwt ttgmfpqefi icfhkhvrie
       61 rlviqsyfdl vhtegqlqne eivahdgsat ylrfiivsaf dhfasvhsvs aegtvvsnls
      121 s
//
LOCUS       NP_001074312             244 aa            linear   PRI 29-DEC-2022
DEFINITION  glutathione S-transferase theta-2B isoform 1 [Homo sapiens].
ACCESSION   NP_001074312 XP_001131290 XP_934016
VERSION     NP_001074312.1
DBSOURCE    REFSEQ: accession NM_001080843.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 244)
  AUTHORS   Iorio A, Polimanti R, Calandro M, Graziano ME, Piacentini S,
            Bucossi S, Squitti R, Lazzarin N, Scano G, Limbruno GM, Manfellotto
            D and Fuciarelli M.
  TITLE     Explorative genetic association study of GSTT2B copy number variant
            in complex disease risks
  JOURNAL   Ann Hum Biol 43 (3), 279-284 (2016)
   PUBMED   26207597
  REMARK    GeneRIF: The data highlights that GSTT2B copy number variant is not
            associated with the investigated complex diseases in Italian
            patients.
REFERENCE   2  (residues 1 to 244)
  AUTHORS   Bustamante M, Danileviciute A, Espinosa A, Gonzalez JR, Subirana I,
            Cordier S, Chevrier C, Chatzi L, Grazuleviciene R, Sunyer J,
            Ibarluzea J, Ballester F, Villanueva CM, Nieuwenhuijsen M, Estivill
            X and Kogevinas M.
  TITLE     Influence of fetal glutathione S-transferase copy number variants
            on adverse reproductive outcomes
  JOURNAL   BJOG 119 (9), 1141-1146 (2012)
   PUBMED   22676722
  REMARK    GeneRIF: Results GSTT2B insertion allele was associated with an
            increased risk of being small for gestational age indicate that
REFERENCE   3  (residues 1 to 244)
  AUTHORS   Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, Van der Harst P, Holm
            H, Sanna S, Kavousi M, Baumeister SE, Coin LJ, Deng G, Gieger C,
            Heard-Costa NL, Hottenga JJ, Kuhnel B, Kumar V, Lagou V, Liang L,
            Luan J, Vidal PM, Mateo Leach I, O'Reilly PF, Peden JF, Rahmioglu
            N, Soininen P, Speliotes EK, Yuan X, Thorleifsson G, Alizadeh BZ,
            Atwood LD, Borecki IB, Brown MJ, Charoen P, Cucca F, Das D, de Geus
            EJ, Dixon AL, Doring A, Ehret G, Eyjolfsson GI, Farrall M, Forouhi
            NG, Friedrich N, Goessling W, Gudbjartsson DF, Harris TB,
            Hartikainen AL, Heath S, Hirschfield GM, Hofman A, Homuth G,
            Hypponen E, Janssen HL, Johnson T, Kangas AJ, Kema IP, Kuhn JP, Lai
            S, Lathrop M, Lerch MM, Li Y, Liang TJ, Lin JP, Loos RJ, Martin NG,
            Moffatt MF, Montgomery GW, Munroe PB, Musunuru K, Nakamura Y,
            O'Donnell CJ, Olafsson I, Penninx BW, Pouta A, Prins BP, Prokopenko
            I, Puls R, Ruokonen A, Savolainen MJ, Schlessinger D, Schouten JN,
            Seedorf U, Sen-Chowdhry S, Siminovitch KA, Smit JH, Spector TD, Tan
            W, Teslovich TM, Tukiainen T, Uitterlinden AG, Van der Klauw MM,
            Vasan RS, Wallace C, Wallaschofski H, Wichmann HE, Willemsen G,
            Wurtz P, Xu C, Yerges-Armstrong LM, Abecasis GR, Ahmadi KR, Boomsma
            DI, Caulfield M, Cookson WO, van Duijn CM, Froguel P, Matsuda K,
            McCarthy MI, Meisinger C, Mooser V, Pietilainen KH, Schumann G,
            Snieder H, Sternberg MJ, Stolk RP, Thomas HC, Thorsteinsdottir U,
            Uda M, Waeber G, Wareham NJ, Waterworth DM, Watkins H, Whitfield
            JB, Witteman JC, Wolffenbuttel BH, Fox CS, Ala-Korpela M,
            Stefansson K, Vollenweider P, Volzke H, Schadt EE, Scott J,
            Jarvelin MR, Elliott P and Kooner JS.
  CONSRTM   Alcohol Genome-wide Association (AlcGen) Consortium; Diabetes
            Genetics Replication and Meta-analyses (DIAGRAM+) Study; Genetic
            Investigation of Anthropometric Traits (GIANT) Consortium; Global
            Lipids Genetics Consortium; Genetics of Liver Disease (GOLD)
            Consortium; International Consortium for Blood Pressure
            (ICBP-GWAS); Meta-analyses of Glucose and Insulin-Related Traits
            Consortium (MAGIC)
  TITLE     Genome-wide association study identifies loci influencing
            concentrations of liver enzymes in plasma
  JOURNAL   Nat Genet 43 (11), 1131-1138 (2011)
   PUBMED   22001757
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 244)
  AUTHORS   Matejcic M, Li D, Prescott NJ, Lewis CM, Mathew CG and Parker MI.
  TITLE     Association of a deletion of GSTT2B with an altered risk of
            oesophageal squamous cell carcinoma in a South African population:
            a case-control study
  JOURNAL   PLoS One 6 (12), e29366 (2011)
   PUBMED   22216261
  REMARK    GeneRIF: results suggest that the presence of the recently
            described GSTT2B deletion may have a protective effect on the risk
            of OSCC in the Mixed Ancestry South African population
REFERENCE   5  (residues 1 to 244)
  AUTHORS   Zhao Y, Marotta M, Eichler EE, Eng C and Tanaka H.
  TITLE     Linkage disequilibrium between two high-frequency deletion
            polymorphisms: implications for association studies involving the
            glutathione-S transferase (GST) genes
  JOURNAL   PLoS Genet 5 (5), e1000472 (2009)
   PUBMED   19424424
  REMARK    GeneRIF: study describes a previously uncharacterized 38-kilo-base
            (kb) long deletion polymorphism of GSTT2B located within a 61-kb
            DNA inverted repeat
REFERENCE   6  (residues 1 to 244)
  AUTHORS   Coggan M, Whitbread L, Whittington A and Board P.
  TITLE     Structure and organization of the human theta-class glutathione
            S-transferase and D-dopachrome tautomerase gene complex
  JOURNAL   Biochem J 334 (Pt 3) (Pt 3), 617-623 (1998)
   PUBMED   9729470
REFERENCE   7  (residues 1 to 244)
  AUTHORS   Tan KL, Webb GC, Baker RT and Board PG.
  TITLE     Molecular cloning of a cDNA and chromosomal localization of a human
            theta-class glutathione S-transferase gene (GSTT2) to chromosome 22
  JOURNAL   Genomics 25 (2), 381-387 (1995)
   PUBMED   7789971
REFERENCE   8  (residues 1 to 244)
  AUTHORS   Hussey AJ and Hayes JD.
  TITLE     Characterization of a human class-Theta glutathione S-transferase
            with activity towards 1-menaphthyl sulphate
  JOURNAL   Biochem J 286 (Pt 3) (Pt 3), 929-935 (1992)
   PUBMED   1417752
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC253536.1.
            On or before Jan 30, 2007 this sequence version replaced
            XP_934016.2, XP_001131290.1.
            
            Summary: The protein encoded by this gene, glutathione
            S-transferase (GST) theta 2B (GSTT2B), is a member of a superfamily
            of proteins that catalyze the conjugation of reduced glutathione to
            a variety of electrophilic and hydrophobic compounds. Human GSTs
            can be divided into five main classes: alpha, mu, pi, theta, and
            zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and
            GSTT2B are nearly identical to each other, and share 55% amino acid
            identity with GSTT1. All three genes may play a role in human
            carcinogenesis. The GSTT2B gene is a pseudogene in some
            populations. [provided by RefSeq, Sep 2015].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC071700.1, BX376669.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000290765.9/ ENSP00000290765.4
            polymorphic pseudogene :: PMID: 19424424
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..244
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     Protein         1..244
                     /product="glutathione S-transferase theta-2B isoform 1"
                     /EC_number="2.5.1.18"
                     /note="glutathione S-transferase theta 2; GST
                     class-theta-2"
                     /calculated_mol_wt=27376
     Region          3..78
                     /region_name="GST_N_Theta"
                     /note="GST_N family, Class Theta subfamily; composed of
                     eukaryotic class Theta GSTs and bacterial dichloromethane
                     (DCM) dehalogenase. GSTs are cytosolic dimeric proteins
                     involved in cellular detoxification by catalyzing the
                     conjugation of glutathione (GSH) with...; cd03050"
                     /db_xref="CDD:239348"
     Site            order(9..10,12,15..16,18..20,23,37)
                     /site_type="other"
                     /note="C-terminal domain interface [polypeptide binding]"
                     /db_xref="CDD:239348"
     Site            order(11..12,40..41,53..54,66..67)
                     /site_type="other"
                     /note="GSH binding site (G-site) [chemical binding]"
                     /db_xref="CDD:239348"
     Site            12
                     /site_type="active"
                     /note="sulfate binding site [active]"
                     /db_xref="CDD:239348"
     Site            order(50,62..63,65..66,69)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:239348"
     Region          91..216
                     /region_name="GST_C_Theta"
                     /note="C-terminal, alpha helical domain of Class Theta
                     Glutathione S-transferases; cd03183"
                     /db_xref="CDD:198292"
     Site            order(93..94,97,100..101)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:198292"
     Site            order(103,107..108,111..112,114..115,119,172,175)
                     /site_type="other"
                     /note="substrate binding pocket (H-site) [chemical
                     binding]"
                     /db_xref="CDD:198292"
     Site            order(167,171..172,175,208..209,212..213)
                     /site_type="other"
                     /note="N-terminal domain interface [polypeptide binding]"
                     /db_xref="CDD:198292"
     CDS             1..244
                     /gene="GSTT2B"
                     /gene_synonym="GSTT2P"
                     /coded_by="NM_001080843.4:65..799"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS33617.1"
                     /db_xref="GeneID:653689"
                     /db_xref="HGNC:HGNC:33437"
ORIGIN      
        1 mglelfldlv sqpsravyif akkngiplel rtvdlvkgqh kskeflqins lgklptlkdg
       61 dfiltessai liylsckyqt pdhwypsdlq ararvheylg whadcirgtf giplwvqvlg
      121 pligvqvpee kvernrtamd qalqwledkf lgdrpflagq qvtladlmal eelmqpvalg
      181 yelfegrprl aawrgrveaf lgaelcqeah siilsileqa akktlptpsp eayqamllri
      241 arip
//
LOCUS       NP_001305857             211 aa            linear   PRI 30-DEC-2022
DEFINITION  ribulose-phosphate 3-epimerase isoform 8 [Homo sapiens].
ACCESSION   NP_001305857
VERSION     NP_001305857.1
DBSOURCE    REFSEQ: accession NM_001318928.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 211)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 211)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam
            S, MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 211)
  AUTHORS   Shin SY, Fauman EB, Petersen AK, Krumsiek J, Santos R, Huang J,
            Arnold M, Erte I, Forgetta V, Yang TP, Walter K, Menni C, Chen L,
            Vasquez L, Valdes AM, Hyde CL, Wang V, Ziemek D, Roberts P, Xi L,
            Grundberg E, Waldenberger M, Richards JB, Mohney RP, Milburn MV,
            John SL, Trimmer J, Theis FJ, Overington JP, Suhre K, Brosnan MJ,
            Gieger C, Kastenmuller G, Spector TD and Soranzo N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   4  (residues 1 to 211)
  AUTHORS   Liang W, Ouyang S, Shaw N, Joachimiak A, Zhang R and Liu ZJ.
  TITLE     Conversion of D-ribulose 5-phosphate to D-xylulose 5-phosphate: new
            insights from structural and biochemical studies on human RPE
  JOURNAL   FASEB J 25 (2), 497-504 (2011)
   PUBMED   20923965
  REMARK    GeneRIF: The binary complexes of RPE reported here will aid in the
            design of small molecules for modulating the activity of the enzyme
            and altering flux through the pentose phosphate pathway.
REFERENCE   5  (residues 1 to 211)
  AUTHORS   Stanchi F, Bertocco E, Toppo S, Dioguardi R, Simionati B, Cannata
            N, Zimbello R, Lanfranchi G and Valle G.
  TITLE     Characterization of 16 novel human genes showing high similarity to
            yeast sequences
  JOURNAL   Yeast 18 (1), 69-80 (2001)
   PUBMED   11124703
REFERENCE   6  (residues 1 to 211)
  AUTHORS   Miyazaki K, Yamanaka T and Ogasawara N.
  TITLE     Interstitial deletion 2q32.1----q34 in a child with half normal
            activity of ribulose 5-phosphate 3-epimerase (RPE)
  JOURNAL   J Med Genet 25 (12), 850-851 (1988)
   PUBMED   3236368
REFERENCE   7  (residues 1 to 211)
  AUTHORS   Dallapiccola B, Novelli G and Giannotti A.
  TITLE     Deletion 2q31.3----2q33.3: gene dosage effect of ribulose
            5-phosphate 3-epimerase
  JOURNAL   Hum Genet 79 (1), 92 (1988)
   PUBMED   3366467
REFERENCE   8  (residues 1 to 211)
  AUTHORS   Boss,G.R. and Pilz,R.B.
  TITLE     Phosphoribosylpyrophosphate synthesis from glucose decreases during
            amino acid starvation of human lymphoblasts
  JOURNAL   J Biol Chem 260 (10), 6054-6059 (1985)
   PUBMED   2581946
REFERENCE   9  (residues 1 to 211)
  AUTHORS   Spencer,N. and Hopkinson,D.A.
  TITLE     Biochemical genetics of the pentose phosphate cycle: human ribose
            5-phosphate isomerase (RPI) and ribulose 5-phosphate 3-epimerase
            (RPE)
  JOURNAL   Ann Hum Genet 43 (4), 335-342 (1980)
   PUBMED   7396409
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC403549.1, DA592494.1, BC005148.2, AB075523.1 and AI222711.1.
            
            Transcript Variant: This variant (11) contains an alternate
            in-frame exon and uses an alternate in-frame splice junction
            compared to variant 1. The resulting isoform (8) contains an
            alternate internal segment and lacks another alternate internal
            segment compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.3804225.1,
                                           SRR14038194.3605245.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2152474
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..211
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q34"
     Protein         1..211
                     /product="ribulose-phosphate 3-epimerase isoform 8"
                     /EC_number="5.1.3.1"
                     /note="ribulose-phosphate 3-epimerase"
                     /calculated_mol_wt=22806
     Region          6..197
                     /region_name="RPE"
                     /note="Ribulose-5-phosphate 3-epimerase (RPE). This enzyme
                     catalyses the interconversion of D-ribulose 5-phosphate
                     (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin
                     cycle (reductive pentose phosphate pathway) in
                     chloroplasts and in the oxidative pentose...; cd00429"
                     /db_xref="CDD:238244"
     Site            order(35,37,70,158)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:238244"
     CDS             1..211
                     /gene="RPE"
                     /gene_synonym="RPE2-1"
                     /coded_by="NM_001318928.2:25..660"
                     /note="isoform 8 is encoded by transcript variant 11"
                     /db_xref="GeneID:6120"
                     /db_xref="HGNC:HGNC:10293"
                     /db_xref="MIM:180480"
ORIGIN      
        1 masgckigps ilnsdlanlg aeclrmldsg adylhldvmd ghfvpnitfg hpvveslrkq
       61 lgqdpffdmh mmvskpeqwv kpmavaganq ytfhleaten pgalikdire ngmkscsvtq
      121 aevqwhsqgp lqvglaikpg tsvhwlrtqf psldievdgg vgpdtvhkca eaganmivsg
      181 saimrsedpr svinllrnvc seaaqkrsld r
//
LOCUS       NP_003657                400 aa            linear   PRI 31-DEC-2022
DEFINITION  golgin-45 isoform 1 [Homo sapiens].
ACCESSION   NP_003657
VERSION     NP_003657.1
DBSOURCE    REFSEQ: accession NM_003666.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 400)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (residues 1 to 400)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 400)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 400)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 400)
  AUTHORS   Tiwari N, Graham M, Liu X, Yue X, Zhu L, Meshram D, Choi S, Qian Y,
            Rothman JE and Lee I.
  TITLE     Golgin45-Syntaxin5 Interaction Contributes to Structural Integrity
            of the Golgi Stack
  JOURNAL   Sci Rep 9 (1), 12465 (2019)
   PUBMED   31462665
  REMARK    GeneRIF: Golgin45-Syntaxin5 Interaction Contributes to Structural
            Integrity of the Golgi Stack.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 400)
  AUTHORS   Tong JH, Fant X, Benoit G, Chen SJ, Chen Z and Lanotte M.
  TITLE     Genomic organization of the JEM-1 (BLZF1) gene on human chromosome
            1q24: molecular cloning and analysis of its promoter region
  JOURNAL   Genomics 69 (3), 380-390 (2000)
   PUBMED   11056056
REFERENCE   7  (residues 1 to 400)
  AUTHORS   Tong JH, Duprez E and Lanotte M.
  TITLE     JEM-1, a novel nuclear co-factor: localisation and functional
            interaction with AP-1
  JOURNAL   Leukemia 13 (12), 1982-1992 (1999)
   PUBMED   10602419
REFERENCE   8  (residues 1 to 400)
  AUTHORS   Tong JH, Fant X, Duprez E, Benoit G, Uphoff CC, Drexler HG, Pla JC,
            Lofvenberg E and Lanotte M.
  TITLE     Expression patterns of the JEM-1 gene in normal and tumor cells:
            ubiquity contrasting with a faint, but retinoid-induced, mRNA
            expression in promyelocytic NB4 cells
  JOURNAL   Leukemia 12 (11), 1733-1740 (1998)
   PUBMED   9823948
REFERENCE   9  (residues 1 to 400)
  AUTHORS   Ting NS, Kao PN, Chan DW, Lintott LG and Lees-Miller SP.
  TITLE     DNA-dependent protein kinase interacts with antigen receptor
            response element binding proteins NF90 and NF45
  JOURNAL   J Biol Chem 273 (4), 2136-2145 (1998)
   PUBMED   9442054
REFERENCE   10 (residues 1 to 400)
  AUTHORS   Duprez E, Tong JH, Derre J, Chen SJ, Berger R, Chen Z and Lanotte
            M.
  TITLE     JEM-1, a novel gene encoding a leucine-zipper nuclear factor
            upregulated during retinoid-induced maturation of NB4 promyelocytic
            leukaemia
  JOURNAL   Oncogene 14 (13), 1563-1570 (1997)
   PUBMED   9129147
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356852.11 and AL021068.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC020716.1, SRR1803615.42509.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..400
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.2"
     Protein         1..400
                     /product="golgin-45 isoform 1"
                     /note="JEM-1short protein; cytoplasmic protein; p45 basic
                     leucine-zipper nuclear factor; leucine zipper nuclear
                     factor"
                     /calculated_mol_wt=44779
     Region          1..58
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2G9.2)"
     Site            15
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H2G9.2)"
     Region          18..22
                     /region_name="Tankyrase-binding motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2G9.2)"
     Site            49
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9H2G9.2)"
     Region          <121..>271
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          181..226
                     /region_name="DASH_Hsk3"
                     /note="DASH complex subunit Hsk3 like; pfam08227"
                     /db_xref="CDD:429874"
     Site            348
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9H2G9.2)"
     Site            353
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9H2G9.2)"
     Region          394..400
                     /region_name="Essential for interaction with GORASP2.
                     /evidence=ECO:0000269|PubMed:11739401"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2G9.2)"
     CDS             1..400
                     /gene="BLZF1"
                     /gene_synonym="GOLGIN-45; JEM-1; JEM-1s; JEM1"
                     /coded_by="NM_003666.4:199..1401"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1278.1"
                     /db_xref="GeneID:8548"
                     /db_xref="HGNC:HGNC:1065"
                     /db_xref="MIM:608692"
ORIGIN      
        1 mttknletkv tvtsspirga gdgmeteepp ksvevtsgvq srkhhslqsp wkkavpsesp
       61 gvlqlgkmlt ekamevkavr ilvpkaaith dipnkntkvk slghhkgefl gqsegviepn
      121 kelsevknvl eklknserrl lqdkeglsnq lrvqtevnre lkkllvasvg ddlqyhferl
      181 areknqlile nealgrntaq lseqlermsi qcdvwrskfl asrvmadelt nsraalqrqn
      241 rdahgaiqdl lsereqfrqe miatqkllee llvslqwgre qtyspsvqph staelaltnh
      301 klakavnshl lgnvginnqk kipstvefcs tpaekmaetv lrildpvtck esspdnpffe
      361 sspttllatk knigrfhpyt ryenitfncc nhcrgelial
//
LOCUS       NP_003594                666 aa            linear   PRI 31-DEC-2022
DEFINITION  sorbin and SH3 domain-containing protein 2 isoform 1 [Homo
            sapiens].
ACCESSION   NP_003594
VERSION     NP_003594.3
DBSOURCE    REFSEQ: accession NM_003603.7
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 666)
  AUTHORS   Chen Q, Xu J and Zhu M.
  TITLE     miR-18a-5p Facilitates Malignant Progression of Head and Neck
            Squamous Cell Carcinoma Cells via Modulating SORBS2
  JOURNAL   Comput Math Methods Med 2021, 5953881 (2021)
   PUBMED   34707683
  REMARK    GeneRIF: miR-18a-5p Facilitates Malignant Progression of Head and
            Neck Squamous Cell Carcinoma Cells via Modulating SORBS2.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 666)
  AUTHORS   Liang F, Wang B, Geng J, You G, Fa J, Zhang M, Sun H, Chen H, Fu Q,
            Zhang X and Zhang Z.
  TITLE     SORBS2 is a genetic factor contributing to cardiac malformation of
            4q deletion syndrome patients
  JOURNAL   Elife 10, e67481 (2021)
   PUBMED   34099102
  REMARK    GeneRIF: SORBS2 is a genetic factor contributing to cardiac
            malformation of 4q deletion syndrome patients.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 666)
  AUTHORS   An J, Wang H, Ma X, Hu B, Yan Y, Yan Y and Su Z.
  TITLE     Musk ketone induces apoptosis of gastric cancer cells via
            downregulation of sorbin and SH3 domain containing 2
  JOURNAL   Mol Med Rep 23 (6) (2021)
   PUBMED   33880576
  REMARK    GeneRIF: Musk ketone induces apoptosis of gastric cancer cells via
            downregulation of sorbin and SH3 domain containing 2.
REFERENCE   4  (residues 1 to 666)
  AUTHORS   Lv Q, Dong F, Zhou Y, Cai Z and Wang G.
  TITLE     RNA-binding protein SORBS2 suppresses clear cell renal cell
            carcinoma metastasis by enhancing MTUS1 mRNA stability
  JOURNAL   Cell Death Dis 11 (12), 1056 (2020)
   PUBMED   33311452
  REMARK    GeneRIF: RNA-binding protein SORBS2 suppresses clear cell renal
            cell carcinoma metastasis by enhancing MTUS1 mRNA stability.
            Erratum:[Cell Death Dis. 2021 Nov 8;12(11):1062. PMID: 34750363]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 666)
  AUTHORS   Nakayama M, Kikuno R and Ohara O.
  TITLE     Protein-protein interactions between large proteins: two-hybrid
            screening using a functionally classified library composed of long
            cDNAs
  JOURNAL   Genome Res 12 (11), 1773-1784 (2002)
   PUBMED   12421765
REFERENCE   6  (residues 1 to 666)
  AUTHORS   Xu YC, Wu RF, Gu Y, Yang YS, Yang MC, Nwariaku FE and Terada LS.
  TITLE     Involvement of TRAF4 in oxidative activation of c-Jun N-terminal
            kinase
  JOURNAL   J Biol Chem 277 (31), 28051-28057 (2002)
   PUBMED   12023963
REFERENCE   7  (residues 1 to 666)
  AUTHORS   Kimura A, Baumann CA, Chiang SH and Saltiel AR.
  TITLE     The sorbin homology domain: a motif for the targeting of proteins
            to lipid rafts
  JOURNAL   Proc Natl Acad Sci U S A 98 (16), 9098-9103 (2001)
   PUBMED   11481476
REFERENCE   8  (residues 1 to 666)
  AUTHORS   Zucconi A, Dente L, Santonico E, Castagnoli L and Cesareni G.
  TITLE     Selection of ligands by panning of domain libraries displayed on
            phage lambda reveals new potential partners of synaptojanin 1
  JOURNAL   J Mol Biol 307 (5), 1329-1339 (2001)
   PUBMED   11292345
REFERENCE   9  (residues 1 to 666)
  AUTHORS   Kawabe H, Hata Y, Takeuchi M, Ide N, Mizoguchi A and Takai Y.
  TITLE     nArgBP2, a novel neural member of ponsin/ArgBP2/vinexin family that
            interacts with synapse-associated protein 90/postsynaptic
            density-95-associated protein (SAPAP)
  JOURNAL   J Biol Chem 274 (43), 30914-30918 (1999)
   PUBMED   10521485
REFERENCE   10 (residues 1 to 666)
  AUTHORS   Wang B, Golemis EA and Kruh GD.
  TITLE     ArgBP2, a multiple Src homology 3 domain-containing,
            Arg/Abl-interacting protein, is phosphorylated in v-Abl-transformed
            cells and localized in stress fibers and cardiocyte Z-disks
  JOURNAL   J Biol Chem 272 (28), 17542-17550 (1997)
   PUBMED   9211900
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104805.3, AC108472.5 and
            AC093797.3.
            On Jul 31, 2008 this sequence version replaced NP_003594.2.
            
            Summary: Arg and c-Abl represent the mammalian members of the
            Abelson family of non-receptor protein-tyrosine kinases. They
            interact with the Arg/Abl binding proteins via the SH3 domains
            present in the carboxy end of the latter group of proteins. This
            gene encodes the sorbin and SH3 domain containing 2 protein. It has
            three C-terminal SH3 domains and an N-terminal sorbin homology
            (SoHo) domain that interacts with lipid raft proteins. The
            subcellular localization of this protein in epithelial and cardiac
            muscle cells suggests that it functions as an adapter protein to
            assemble signaling complexes in stress fibers, and that it is a
            potential link between Abl family kinases and the actin
            cytoskeleton. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) differs at the 5' end, and
            contains a small in-frame insertion and a large in-frame deletion
            compared to transcript variant 2. It encodes a shorter isoform (1)
            with a different amino-terminal, but the same carboxy-terminal
            sequence containing three SH3 domains, as isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF049884.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..666
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1"
     Protein         1..666
                     /product="sorbin and SH3 domain-containing protein 2
                     isoform 1"
                     /note="Arg binding protein 2; Arg/Abl-interacting protein
                     2; arg-binding protein 2"
                     /calculated_mol_wt=74647
     Region          116..160
                     /region_name="Sorb"
                     /note="Sorbin homologous domain; pfam02208"
                     /db_xref="CDD:426659"
     Region          432..486
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:450141"
     Site            order(438,440,443,447,465..466,479,481..482)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212690"
     Region          507..563
                     /region_name="SH3_Sorbs2_2"
                     /note="Second Src Homology 3 domain of Sorbin and SH3
                     domain containing 2 (Sorbs2), also called Arg-binding
                     protein 2 (ArgBP2); cd11923"
                     /db_xref="CDD:212856"
     Site            order(513,515,518,522,540..541,556,558..559)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212856"
     Region          606..666
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:450141"
     Site            order(616,618,621,625,643..644,659,661..662)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212690"
     CDS             1..666
                     /gene="SORBS2"
                     /gene_synonym="ARGBP2; PRO0618"
                     /coded_by="NM_003603.7:712..2712"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS43289.2"
                     /db_xref="GeneID:8470"
                     /db_xref="HGNC:HGNC:24098"
                     /db_xref="MIM:616349"
ORIGIN      
        1 mntgrdsqsp dsakgfrsvr pnlqdkrspt qsqitvngns ggavspmsyy qrpfspsays
       61 lpaslnssiv mqhgtsldst dtypqhaqsl dgttsssipl yrsseeekrv tvikaphypg
      121 igpvdesgip tairttvdrp kdwyktmfkq ihmvhkpddd tdmyntpyty naglynppys
      181 aqshpaaktq tyrplskshs dnspnafkda sspvppphvp ppvpplrprd rsstekhdwd
      241 ppdrkvdtrk frseprsife yepgkssilq herptdrinp ddidlenepw ykffselefg
      301 rpppkkpldy vqdhssgvfn easlyqssid rslerpmssa smasdfrkrr ksepavgppr
      361 glgdqsasrt spgrvdlpgs sttltksfts sspsspsrak dresprsyss tltdmgrsap
      421 rerrgtpeke klpakavydf kaqtskelsf kkgdtvyilr kidqnwyege hhgrvgifpi
      481 syvekltppe kaqparpppp aqpgeigeai akynfnadtn velslrkgdr villkrvdqn
      541 wyegkipgtn rqgifpvsyv evvkkntkga edypdppiph syssdrihsl ssnkpqrpvf
      601 theniqggge pfqalynytp rnedelelre sdvidvmekc ddgwfvgtsr rtkffgtfpg
      661 nyvkrl
//
LOCUS       NP_001241667             244 aa            linear   PRI 01-JAN-2023
DEFINITION  rho-related GTP-binding protein RhoE precursor [Homo sapiens].
ACCESSION   NP_001241667
VERSION     NP_001241667.1
DBSOURCE    REFSEQ: accession NM_001254738.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 244)
  AUTHORS   Almaran B, Ramis G, Fernandez de Mattos S and Villalonga P.
  TITLE     Rnd3 Is a Crucial Mediator of the Invasive Phenotype of
            Glioblastoma Cells Downstream of Receptor Tyrosine Kinase
            Signalling
  JOURNAL   Cells 11 (23), 3716 (2022)
   PUBMED   36496976
  REMARK    GeneRIF: Rnd3 Is a Crucial Mediator of the Invasive Phenotype of
            Glioblastoma Cells Downstream of Receptor Tyrosine Kinase
            Signalling.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 244)
  AUTHORS   Dai L, Chen X, Zhang H, Zeng H, Yin Z, Ye Z and Wei Y.
  TITLE     RND3 Transcriptionally Regulated by FOXM1 Inhibits the Migration
            and Inflammation of Synovial Fibroblasts in Rheumatoid Arthritis
            Through the Rho/ROCK Pathway
  JOURNAL   J Interferon Cytokine Res 42 (6), 279-289 (2022)
   PUBMED   35699481
  REMARK    GeneRIF: RND3 Transcriptionally Regulated by FOXM1 Inhibits the
            Migration and Inflammation of Synovial Fibroblasts in Rheumatoid
            Arthritis Through the Rho/ROCK Pathway.
            Erratum:[J Interferon Cytokine Res. 2022 Nov;42(11):594. PMID:
            36383127]
REFERENCE   3  (residues 1 to 244)
  AUTHORS   Basbous S, Paysan L, Sena S, Allain N, Hiriart JB, Dugot-Senant N,
            Rousseau B, Chevret E, Lagree V and Moreau V.
  TITLE     Silencing of RND3/RHOE inhibits the growth of human hepatocellular
            carcinoma and is associated with reversible senescence
  JOURNAL   Cancer Gene Ther 29 (5), 437-444 (2022)
   PUBMED   35256752
  REMARK    GeneRIF: Silencing of RND3/RHOE inhibits the growth of human
            hepatocellular carcinoma and is associated with reversible
            senescence.
REFERENCE   4  (residues 1 to 244)
  AUTHORS   Hu XC, Chu J, Zhou Y, Li CC, Zhou GJ and Jiang GQ.
  TITLE     HOXD9 transcriptionally induced UXT facilitate breast cancer
            progression via epigenetic modification of RND3
  JOURNAL   Cell Signal 90, 110188 (2022)
   PUBMED   34767964
  REMARK    GeneRIF: HOXD9 transcriptionally induced UXT facilitate breast
            cancer progression via epigenetic modification of RND3.
REFERENCE   5  (residues 1 to 244)
  AUTHORS   Zhao K, Yuan WH, Li WJ, Chi ZP, Wang SR and Chen ZG.
  TITLE     Effect of RhoE expression on the migration and invasion of tongue
            squamous cell carcinoma
  JOURNAL   Hua Xi Kou Qiang Yi Xue Za Zhi 39 (5), 510-517 (2021)
   PUBMED   34636197
  REMARK    GeneRIF: Effect of RhoE expression on the migration and invasion of
            tongue squamous cell carcinoma.
REFERENCE   6  (residues 1 to 244)
  AUTHORS   Riento K, Guasch RM, Garg R, Jin B and Ridley AJ.
  TITLE     RhoE binds to ROCK I and inhibits downstream signaling
  JOURNAL   Mol Cell Biol 23 (12), 4219-4229 (2003)
   PUBMED   12773565
REFERENCE   7  (residues 1 to 244)
  AUTHORS   Fiegen D, Blumenstein L, Stege P, Vetter IR and Ahmadian MR.
  TITLE     Crystal structure of Rnd3/RhoE: functional implications
  JOURNAL   FEBS Lett 525 (1-3), 100-104 (2002)
   PUBMED   12163169
REFERENCE   8  (residues 1 to 244)
  AUTHORS   Katoh H, Harada A, Mori K and Negishi M.
  TITLE     Socius is a novel Rnd GTPase-interacting protein involved in
            disassembly of actin stress fibers
  JOURNAL   Mol Cell Biol 22 (9), 2952-2964 (2002)
   PUBMED   11940653
  REMARK    GeneRIF: Socius is a novel Rnd GTPase-interacting protein involved
            in disassembly of actin stress fibers
REFERENCE   9  (residues 1 to 244)
  AUTHORS   Nobes CD, Lauritzen I, Mattei MG, Paris S, Hall A and Chardin P.
  TITLE     A new member of the Rho family, Rnd1, promotes disassembly of actin
            filament structures and loss of cell adhesion
  JOURNAL   J Cell Biol 141 (1), 187-197 (1998)
   PUBMED   9531558
REFERENCE   10 (residues 1 to 244)
  AUTHORS   Foster R, Hu KQ, Lu Y, Nolan KM, Thissen J and Settleman J.
  TITLE     Identification of a novel human Rho protein with unusual
            properties: GTPase deficiency and in vivo farnesylation
  JOURNAL   Mol Cell Biol 16 (6), 2689-2699 (1996)
   PUBMED   8649376
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC074097.6, AK313224.1 and AC093738.2.
            
            Summary: This gene encodes a protein which is a member of the small
            GTPase protein superfamily. The encoded protein binds only GTP but
            has no GTPase activity, and appears to act as a negative regulator
            of cytoskeletal organization leading to loss of adhesion. Multiple
            alternatively spliced variants, encoding the same protein, have
            been identified. [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X97758.1, SRR11853561.16837.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..244
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q23.3"
     Protein         1..244
                     /product="rho-related GTP-binding protein RhoE precursor"
                     /note="ras homolog gene family, member E; rho-related
                     GTP-binding protein RhoE; small GTP binding protein Rho8;
                     protein MemB; rho-related GTP-binding protein Rho8"
                     /calculated_mol_wt=27237
     mat_peptide     1..241
                     /product="Rho-related GTP-binding protein RhoE.
                     /id=PRO_0000198878"
                     /note="propagated from UniProtKB/Swiss-Prot (P61587.1)"
                     /calculated_mol_wt=27037
     Region          19..200
                     /region_name="Rnd3_RhoE_Rho8"
                     /note="Rnd3/RhoE/Rho8 GTPases; cd04172"
                     /db_xref="CDD:206735"
     Site            order(25,55..56,58..59,61,63,72,76..77,79..81,87,90)
                     /site_type="other"
                     /note="putative GEF (guanine nucleotide exchange factor)
                     interaction site [polypeptide binding]"
                     /db_xref="CDD:206735"
     Site            30..37
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206735"
     Site            order(33..38,77..78,80,136,138,179..180)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206735"
     Region          52..60
                     /region_name="Effector region. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P61587.1)"
     Site            54..60
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206735"
     Site            55
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206735"
     Site            order(56,79,87,89)
                     /site_type="active"
                     /note="putative GDI (guanine nucleotide dissociation
                     inhibitor) interaction [active]"
                     /db_xref="CDD:206735"
     Site            order(56..57,81,87)
                     /site_type="other"
                     /note="putative GAP (GTPase-activating protein)
                     interaction site [polypeptide binding]"
                     /db_xref="CDD:206735"
     Site            order(57..58,87,90)
                     /site_type="active"
                     /note="putative effector interaction site [active]"
                     /db_xref="CDD:206735"
     Site            77..80
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206735"
     Site            order(80..81,87..90,95..97)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206735"
     Site            135..138
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206735"
     Site            178..180
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206735"
     Site            241
                     /site_type="methylation"
                     /note="Cysteine methyl ester. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P61587.1)"
     CDS             1..244
                     /gene="RND3"
                     /gene_synonym="ARHE; memB; Rho8; RhoE"
                     /coded_by="NM_001254738.1:279..1013"
                     /db_xref="CCDS:CCDS2190.1"
                     /db_xref="GeneID:390"
                     /db_xref="HGNC:HGNC:671"
                     /db_xref="MIM:602924"
ORIGIN      
        1 mkerrasqkl ssksimdpnq nvkckivvvg dsqcgktall hvfakdcfpe nyvptvfeny
       61 tasfeidtqr ielslwdtsg spyydnvrpl sypdsdavli cfdisrpetl dsvlkkwkge
      121 iqefcpntkm llvgcksdlr tdvstlvels nhrqtpvsyd qganmakqig aatyiecsal
      181 qsensvrdif hvatlacvnk tnknvkrnks qratkrishm psrpelsava tdlrkdkaks
      241 ctvm
//
LOCUS       NP_001363544            1545 aa            linear   PRI 20-JAN-2023
DEFINITION  MAP kinase-activating death domain protein isoform 3 [Homo
            sapiens].
ACCESSION   NP_001363544 XP_005253260
VERSION     NP_001363544.1
DBSOURCE    REFSEQ: accession NM_001376615.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1545)
  AUTHORS   Kat M, Burgisser PE, Janssen H, De Cuyper IM, Conte IL, Hume AN,
            Carter T, Voorberg J, Margadant C and Bierings R.
  TITLE     GDP/GTP exchange factor MADD drives activation and recruitment of
            secretory Rab GTPases to Weibel-Palade bodies
  JOURNAL   Blood Adv 5 (23), 5116-5127 (2021)
   PUBMED   34551092
  REMARK    GeneRIF: GDP/GTP exchange factor MADD drives activation and
            recruitment of secretory Rab GTPases to Weibel-Palade bodies.
REFERENCE   2  (residues 1 to 1545)
  AUTHORS   Abu-Libdeh B, Mor-Shaked H, Atawna AA, Gillis D, Halstuk O,
            Shaul-Lotan N, Slae M, Sultan M, Meiner V, Elpeleg O and Harel T.
  TITLE     Homozygous variant in MADD, encoding a Rab guanine nucleotide
            exchange factor, results in pleiotropic effects and a multisystemic
            disorder
  JOURNAL   Eur J Hum Genet 29 (6), 977-987 (2021)
   PUBMED   33723354
  REMARK    GeneRIF: Homozygous variant in MADD, encoding a Rab guanine
            nucleotide exchange factor, results in pleiotropic effects and a
            multisystemic disorder.
REFERENCE   3  (residues 1 to 1545)
  AUTHORS   Schneeberger PE, Kortum F, Korenke GC, Alawi M, Santer R, Woidy M,
            Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra
            R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P,
            Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J,
            Rodriguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen
            MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani
            EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H,
            Sanchez-Valle A, Gelb BD, Kurth I, Hempel M and Kutsche K.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     Biallelic MADD variants cause a phenotypic spectrum ranging from
            developmental delay to a multisystem disorder
  JOURNAL   Brain 143 (8), 2437-2453 (2020)
   PUBMED   32761064
  REMARK    GeneRIF: Biallelic MADD variants cause a phenotypic spectrum
            ranging from developmental delay to a multisystem disorder.
REFERENCE   4  (residues 1 to 1545)
  AUTHORS   Saini S, Sripada L, Tulla K, Kumar P, Yue F, Kunda N, Maker AV and
            Prabhakar BS.
  TITLE     Loss of MADD expression inhibits cellular growth and metastasis in
            anaplastic thyroid cancer
  JOURNAL   Cell Death Dis 10 (2), 145 (2019)
   PUBMED   30760700
  REMARK    GeneRIF: Authors show the crucial role of MADD in ATC tumorigenesis
            and metastasis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1545)
  AUTHORS   Ye B, Zhong F, Yu G, Lou H and Hu J.
  TITLE     MADD Expression in Lung Adenocarcinoma and its Impact on
            Proliferation and Apoptosis of Lung Adenocarcinoma Cells
  JOURNAL   Comb Chem High Throughput Screen 22 (3), 207-215 (2019)
   PUBMED   30947659
  REMARK    GeneRIF: MADD Expression in Lung Adenocarcinoma and its Impact on
            Proliferation and Apoptosis of Lung Adenocarcinoma Cells
REFERENCE   6  (residues 1 to 1545)
  AUTHORS   Telliez JB, Bean KM and Lin LL.
  TITLE     LRDD, a novel leucine rich repeat and death domain containing
            protein
  JOURNAL   Biochim Biophys Acta 1478 (2), 280-288 (2000)
   PUBMED   10825539
REFERENCE   7  (residues 1 to 1545)
  AUTHORS   Chow VT, Lim KM and Lim D.
  TITLE     The human DENN gene: genomic organization, alternative splicing,
            and localization to chromosome 11p11.21-p11.22
  JOURNAL   Genome 41 (4), 543-552 (1998)
   PUBMED   9796103
REFERENCE   8  (residues 1 to 1545)
  AUTHORS   Zhang Y, Zhou L and Miller CA.
  TITLE     A splicing variant of a death domain protein that is regulated by a
            mitogen-activated kinase is a substrate for c-Jun N-terminal kinase
            in the human central nervous system
  JOURNAL   Proc Natl Acad Sci U S A 95 (5), 2586-2591 (1998)
   PUBMED   9482930
REFERENCE   9  (residues 1 to 1545)
  AUTHORS   Schievella AR, Chen JH, Graham JR and Lin LL.
  TITLE     MADD, a novel death domain protein that interacts with the type 1
            tumor necrosis factor receptor and activates mitogen-activated
            protein kinase
  JOURNAL   J Biol Chem 272 (18), 12069-12075 (1997)
   PUBMED   9115275
REFERENCE   10 (residues 1 to 1545)
  AUTHORS   Chow VT and Lee SS.
  TITLE     DENN, a novel human gene differentially expressed in normal and
            neoplastic cells
  JOURNAL   DNA Seq 6 (5), 263-273 (1996)
   PUBMED   8988362
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018410.24 and AC090582.9.
            On Nov 18, 2019 this sequence version replaced XP_005253260.1.
            
            Summary: Tumor necrosis factor alpha (TNF-alpha) is a signaling
            molecule that interacts with one of two receptors on cells targeted
            for apoptosis. The apoptotic signal is transduced inside these
            cells by cytoplasmic adaptor proteins. The protein encoded by this
            gene is a death domain-containing adaptor protein that interacts
            with the death domain of TNF-alpha receptor 1 to activate
            mitogen-activated protein kinase (MAPK) and propagate the apoptotic
            signal. It is membrane-bound and expressed at a higher level in
            neoplastic cells than in normal cells. Several transcript variants
            encoding different isoforms have been described for this gene.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.5337.1,
                                           SRR18074968.2978894.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1545
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..1545
                     /product="MAP kinase-activating death domain protein
                     isoform 3"
                     /note="MAP kinase-activating death domain protein; Rab3
                     GDP/GTP exchange factor; differentially expressed in
                     normal and neoplastic cells; insulinoma glucagonoma clone
                     20; rab3 GDP/GTP exchange protein; Insuloma-Glucagonoma
                     protein 20"
                     /calculated_mol_wt=171262
     Region          8..98
                     /region_name="uDENN"
                     /note="Domain always found upstream of DENN domain, found
                     in a variety of signalling proteins; smart00800"
                     /db_xref="CDD:214824"
     Region          173..402
                     /region_name="DENN"
                     /note="Domain found in a variety of signalling proteins,
                     always encircled by uDENN and dDENN; smart00799"
                     /db_xref="CDD:214823"
     Region          486..554
                     /region_name="dDENN"
                     /note="Domain always found downstream of DENN domain,
                     found in a variety of signalling proteins; smart00801"
                     /db_xref="CDD:129037"
     CDS             1..1545
                     /gene="MADD"
                     /gene_synonym="DEEAH; DENN; IG20; NEDDISH; RAB3GEP;
                     RabGEF"
                     /coded_by="NM_001376615.1:203..4840"
                     /note="isoform 3 is encoded by transcript variant 49"
                     /db_xref="CCDS:CCDS44588.1"
                     /db_xref="GeneID:8567"
                     /db_xref="HGNC:HGNC:6766"
                     /db_xref="MIM:603584"
ORIGIN      
        1 mvqkkkfcpr lldylvivga rhpssdsvaq tpellrrypl edhtefplpp dvvffcqpeg
       61 clsvrqrrms lrddtsfvft ltdkdtgvtr ygicvnfyrs fqkriskekg eggagsrgke
      121 gthatcasee ggtessesgs slqplsadst pdvnqsprgk rrakagsrsr nstltslcvl
      181 shypffstfr eclytlkrlv dccserllgk klgiprgvqr dtmwriftgs llveekssal
      241 lhdlreieaw iyrllrspvp vsgqkrvdie vlpqelqpal tfalpdpsrf tlvdfplhlp
      301 lellgvdacl qvltcilleh kvvlqsrdyn alsmsvmafv amiypleymf pvipllptcm
      361 asaeqlllap tpyiigvpas fflykldfkm pddvwlvdld snrviaptna evlpilpepe
      421 slelkkhlkq alasmslntq pilnlekfhe gqeiplllgr psndlqstps tefnpliygn
      481 dvdsvdvatr vamvrffnsa nvlqgfqmht rtlrlfprpv vafqagsfla srprqtpfae
      541 klartqavey fgewilnptn yafqrihnnm fdpaligdkp kwyahqlqpi hyrvydsnsq
      601 laealsvppe rdsdseptdd sgsdsmdydd ssssysslgd fvsemmkcdi ngdtpnvdpl
      661 thaalgdase veidelqnqk eaeepgpdse nsqenpplrs sssttasssp stvihganse
      721 padstemddk aavgvskplp svppsigksn vdrrqaeige gaqkllrpns lrlasdsdae
      781 sdsrasspns tvsntstegf ggimsfassl yrnhstsfsl snltlptkga rekatpfpsl
      841 kgnrralvdq kssvikhspt vkreppspqg rssnssenqq flkevvhsvl dgqgvgwlnm
      901 kkvrrllese qlrvfvlskl nrmvqsedda rqdiipdvei srkvykgmld llkctvlsle
      961 qsyahaglgg masifgllei aqthyyskep dkrkrsptes vntpvgkdpg lagrgdpkam
     1021 aqlrvpqlgp rapsatgkgp keldtrslke enfiasigpe vikpvfdlge teekksqisa
     1081 dsgvsltsss qrtdqdsvig vspavmirss sqdsevstvv snssgetlga dsdlssnagd
     1141 gpggegsvhl assrgtlsds eietnsatst ifgkahslkp sikeklagsp irtsedvsqr
     1201 vylyegllgk erstlwdqmq fwedafldav mleregmgmd qgpqemidry lslgehdrkr
     1261 leddedrlla tllhnlisym llmkvnkndi rkkvrrlmgk shiglvysqq inevldqlan
     1321 lngrdlsiws sgsrhmkkqt fvvhagtdtn gdiffmevcd dcvvlrsnig tvyerwwyek
     1381 linmtycpkt kvlclwrrng setqlnkfyt kkcrelyycv kdsmeraaar qqsikpgpel
     1441 ggefpvqdlk tgeggllqvt leginlkfmh nqvfielnhi kkcntvrgvf vleefvpeik
     1501 evvshkyktp maheicysvl clfsyvaavh sseedlrtpp rpvss
//
LOCUS       NP_006785                540 aa            linear   PRI 08-FEB-2023
DEFINITION  probable G-protein coupled receptor 75 [Homo sapiens].
ACCESSION   NP_006785
VERSION     NP_006785.1
DBSOURCE    REFSEQ: accession NM_006794.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 540)
  AUTHORS   Pascale JV, Park EJ, Adebesin AM, Falck JR, Schwartzman ML and
            Garcia V.
  TITLE     Uncovering the signalling, structure and function of the
            20-HETE-GPR75 pairing: Identifying the chemokine CCL5 as a negative
            regulator of GPR75
  JOURNAL   Br J Pharmacol 178 (18), 3813-3828 (2021)
   PUBMED   33974269
  REMARK    GeneRIF: Uncovering the signalling, structure and function of the
            20-HETE-GPR75 pairing: Identifying the chemokine CCL5 as a negative
            regulator of GPR75.
REFERENCE   2  (residues 1 to 540)
  AUTHORS   Akbari P, Gilani A, Sosina O, Kosmicki JA, Khrimian L, Fang YY,
            Persaud T, Garcia V, Sun D, Li A, Mbatchou J, Locke AE, Benner C,
            Verweij N, Lin N, Hossain S, Agostinucci K, Pascale JV, Dirice E,
            Dunn M, Kraus WE, Shah SH, Chen YI, Rotter JI, Rader DJ, Melander
            O, Still CD, Mirshahi T, Carey DJ, Berumen-Campos J, Kuri-Morales
            P, Alegre-Diaz J, Torres JM, Emberson JR, Collins R,
            Balasubramanian S, Hawes A, Jones M, Zambrowicz B, Murphy AJ,
            Paulding C, Coppola G, Overton JD, Reid JG, Shuldiner AR, Cantor M,
            Kang HM, Abecasis GR, Karalis K, Economides AN, Marchini J,
            Yancopoulos GD, Sleeman MW, Altarejos J, Della Gatta G,
            Tapia-Conyer R, Schwartzman ML, Baras A, Ferreira MAR and Lotta LA.
  CONSRTM   Regeneron Genetics Center; DiscovEHR Collaboration
  TITLE     Sequencing of 640,000 exomes identifies GPR75 variants associated
            with protection from obesity
  JOURNAL   Science 373 (6550) (2021)
   PUBMED   34210852
  REMARK    GeneRIF: Sequencing of 640,000 exomes identifies GPR75 variants
            associated with protection from obesity.
REFERENCE   3  (residues 1 to 540)
  AUTHORS   Cardenas S, Colombero C, Panelo L, Dakarapu R, Falck JR, Costas MA
            and Nowicki S.
  TITLE     GPR75 receptor mediates 20-HETE-signaling and metastatic features
            of androgen-insensitive prostate cancer cells
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1865 (2), 158573 (2020)
   PUBMED   31760076
  REMARK    GeneRIF: Study results show for the first time the involvement of
            the 20-HETE-GPR75 receptor in the activation of intracellular
            signaling known to be stimulated in cell malignant transformations
            leading to the differentiation of PC-3 prostate cancer cells
            towards a more aggressive phenotype. GPR75 receptor stimulation is
            necessary for the pro-metastatic actions of 20-HETE in androgen
            insensitive prostate cancer cells.
REFERENCE   4  (residues 1 to 540)
  AUTHORS   Dedoni S, Campbell LA, Harvey BK, Avdoshina V and Mocchetti I.
  TITLE     The orphan G-protein-coupled receptor 75 signaling is activated by
            the chemokine CCL5
  JOURNAL   J Neurochem 146 (5), 526-539 (2018)
   PUBMED   29772059
  REMARK    GeneRIF: This study explored the interaction of CCL5 with GPR75, an
            orphan receptor of the Gqalpha family of GPCRs, which appears to be
            expressed more abundantly in neuron-like cells than astrocytes.
REFERENCE   5  (residues 1 to 540)
  AUTHORS   Garcia V, Gilani A, Shkolnik B, Pandey V, Zhang FF, Dakarapu R,
            Gandham SK, Reddy NR, Graves JP, Gruzdev A, Zeldin DC, Capdevila
            JH, Falck JR and Schwartzman ML.
  TITLE     20-HETE Signals Through G-Protein-Coupled Receptor GPR75 (Gq) to
            Affect Vascular Function and Trigger Hypertension
  JOURNAL   Circ Res 120 (11), 1776-1788 (2017)
   PUBMED   28325781
REFERENCE   6  (residues 1 to 540)
  AUTHORS   Tarttelin EE, Kirschner LS, Bellingham J, Baffi J, Taymans SE,
            Gregory-Evans K, Csaky K, Stratakis CA and Gregory-Evans CY.
  TITLE     Cloning and characterization of a novel orphan G-protein-coupled
            receptor localized to human chromosome 2p16
  JOURNAL   Biochem Biophys Res Commun 260 (1), 174-180 (1999)
   PUBMED   10381362
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK314885.1, AF072693.1 and AC008068.4.
            
            Summary: GPR75 is a member of the G protein-coupled receptor
            family. GPRs are cell surface receptors that activate
            guanine-nucleotide binding proteins upon the binding of a
            ligand.[supplied by OMIM, Jul 2002].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.85979.1,
                                           SRR1803615.158623.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394705.3/ ENSP00000378195.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..540
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.2"
     Protein         1..540
                     /product="probable G-protein coupled receptor 75"
                     /calculated_mol_wt=59228
     Region          1..27
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95800.1)"
     Site            2
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95800.1)"
     Site            12
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95800.1)"
     Site            25
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95800.1)"
     Region          44..387
                     /region_name="7tmA_GPR75"
                     /note="G protein-coupled receptor 75, member of the class
                     A family of seven-transmembrane G protein-coupled
                     receptors; cd15007"
                     /db_xref="CDD:320136"
     Region          44..70
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320136"
     Site            47..67
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95800.1)"
     Region          79..104
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320136"
     Site            87..107
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95800.1)"
     Site            order(101,104..105,118..123,125..126,129,173,175..179,199,
                     202..204,206..208,210..211,334,337..338,340..341,344,
                     354..355,357..359,362,365..366)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320136"
     Region          118..148
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320136"
     Site            121..141
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95800.1)"
     Region          159..181
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320136"
     Site            161..181
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95800.1)"
     Region          199..228
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320136"
     Site            206..226
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95800.1)"
     Region          314..344
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320136"
     Site            319..339
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95800.1)"
     Site            351..371
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95800.1)"
     Region          355..380
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320136"
     CDS             1..540
                     /gene="GPR75"
                     /gene_synonym="GPRchr2; WI31133"
                     /coded_by="NM_006794.4:250..1872"
                     /db_xref="CCDS:CCDS1849.1"
                     /db_xref="GeneID:10936"
                     /db_xref="HGNC:HGNC:4526"
                     /db_xref="MIM:606704"
ORIGIN      
        1 mnstghlqda pnatslhvph sqegnstslq eglqdlihta tlvtctflla vifclgsygn
       61 fivflsffdp afrkfrtnfd fmilnlsfcd lficgvtapm ftfvlffssa ssipdafcft
      121 fhltssgfii mslktvavia lhrlrmvlgk qpnrtasfpc tvlltlllwa tsftlatlat
      181 lktskshlcl pmssliagkg kailslyvvd ftfcvavvsv syimiaqtlr knaqvrkcpp
      241 vitvdasrpq pfmgvpvqgg gdpiqcampa lyrnqnynkl qhvqtrgytk spnqlvtpaa
      301 srlqlvsain lstakdskav vtcviivlsv lvcclplgis lvqvvlssng sfilyqfelf
      361 gftliffksg lnpfiysrns aglrrkvlwc lqyiglgffc ckqktrlram gkgnlevnrn
      421 ksshhetnsa ymlspkpqkk fvdqacgpsh skesmvspki saghqhcgqs sstpintrie
      481 pyysiynssp sqeesspcnl qpvnsfgfan syiamhyhtt ndlvqeydst sakqipvpsv
//
LOCUS       NP_002029                130 aa            linear   PRI 19-FEB-2023
DEFINITION  interferon alpha-inducible protein 6 isoform a precursor [Homo
            sapiens].
ACCESSION   NP_002029
VERSION     NP_002029.3
DBSOURCE    REFSEQ: accession NM_002038.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 130)
  AUTHORS   Villamayor L, Rivero V, Lopez-Garcia D, Topham DJ, Martinez-Sobrido
            L, Nogales A and DeDiego ML.
  TITLE     Interferon alpha inducible protein 6 is a negative regulator of
            innate immune responses by modulating RIG-I activation
  JOURNAL   Front Immunol 14, 1105309 (2023)
   PUBMED   36793726
  REMARK    GeneRIF: Interferon alpha inducible protein 6 is a negative
            regulator of innate immune responses by modulating RIG-I
            activation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 130)
  AUTHORS   Kubo Y, Yasui K, Izumida M, Hayashi H and Matsuyama T.
  TITLE     IDO1, FAT10, IFI6, and GILT Are Involved in the Antiretroviral
            Activity of gamma-Interferon and IDO1 Restricts Retrovirus
            Infection by Autophagy Enhancement
  JOURNAL   Cells 11 (14), 2240 (2022)
   PUBMED   35883685
  REMARK    GeneRIF: IDO1, FAT10, IFI6, and GILT Are Involved in the
            Antiretroviral Activity of gamma-Interferon and IDO1 Restricts
            Retrovirus Infection by Autophagy Enhancement.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 130)
  AUTHORS   Sajid M, Ullah H, Yan K, He M, Feng J, Shereen MA, Hao R, Li Q, Guo
            D, Chen Y and Zhou L.
  TITLE     The Functional and Antiviral Activity of Interferon Alpha-Inducible
            IFI6 Against Hepatitis B Virus Replication and Gene Expression
  JOURNAL   Front Immunol 12, 634937 (2021)
   PUBMED   33868257
  REMARK    GeneRIF: The Functional and Antiviral Activity of Interferon
            Alpha-Inducible IFI6 Against Hepatitis B Virus Replication and Gene
            Expression.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 130)
  AUTHORS   Xu L, Zu T, Li T, Li M, Mi J, Bai F, Liu G, Wen J, Li H, Brakebusch
            C, Wang X and Wu X.
  TITLE     ATF3 downmodulates its new targets IFI6 and IFI27 to suppress the
            growth and migration of tongue squamous cell carcinoma cells
  JOURNAL   PLoS Genet 17 (2), e1009283 (2021)
   PUBMED   33539340
  REMARK    GeneRIF: ATF3 downmodulates its new targets IFI6 and IFI27 to
            suppress the growth and migration of tongue squamous cell carcinoma
            cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 130)
  AUTHORS   Jia H, Mo W, Hong M, Jiang S, Zhang YY, He D, Yu D, Shi Y, Cao J,
            Xu X and Zhang S.
  TITLE     Interferon-alpha inducible protein 6 (IFI6) confers protection
            against ionizing radiation in skin cells
  JOURNAL   J Dermatol Sci 100 (2), 139-147 (2020)
   PUBMED   33059972
  REMARK    GeneRIF: Interferon-alpha inducible protein 6 (IFI6) confers
            protection against ionizing radiation in skin cells.
REFERENCE   6  (residues 1 to 130)
  AUTHORS   Itzhaki JE, Barnett MA, MacCarthy AB, Buckle VJ, Brown WR and
            Porter AC.
  TITLE     Targeted breakage of a human chromosome mediated by cloned human
            telomeric DNA
  JOURNAL   Nat Genet 2 (4), 283-287 (1992)
   PUBMED   1303280
REFERENCE   7  (residues 1 to 130)
  AUTHORS   Itzhaki JE and Porter AC.
  TITLE     Targeted disruption of a human interferon-inducible gene detected
            by secretion of human growth hormone
  JOURNAL   Nucleic Acids Res 19 (14), 3835-3842 (1991)
   PUBMED   1713665
REFERENCE   8  (residues 1 to 130)
  AUTHORS   Clauss IM, Wathelet MG, Szpirer J, Content J, Islam MQ, Levan G,
            Szpirer C and Huez GA.
  TITLE     Chromosomal localization of two human genes inducible by
            interferons, double-stranded RNA, and viruses
  JOURNAL   Cytogenet Cell Genet 53 (2-3), 166-168 (1990)
   PUBMED   1695131
REFERENCE   9  (residues 1 to 130)
  AUTHORS   Porter AC, Chernajovsky Y, Dale TC, Gilbert CS, Stark GR and Kerr
            IM.
  TITLE     Interferon response element of the human gene 6-16
  JOURNAL   EMBO J 7 (1), 85-92 (1988)
   PUBMED   3359997
REFERENCE   10 (residues 1 to 130)
  AUTHORS   Kelly,J.M., Porter,A.C., Chernajovsky,Y., Gilbert,C.S., Stark,G.R.
            and Kerr,I.M.
  TITLE     Characterization of a human gene inducible by alpha- and
            beta-interferons and its expression in mouse cells
  JOURNAL   EMBO J 5 (7), 1601-1606 (1986)
   PUBMED   3017706
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL445490.6 and AK024814.1.
            On Mar 9, 2001 this sequence version replaced NP_002029.2.
            
            Summary: This gene was first identified as one of the many genes
            induced by interferon. The encoded protein may play a critical role
            in the regulation of apoptosis. A minisatellite that consists of 26
            repeats of a 12 nucleotide repeating element resembling the
            mammalian splice donor consensus sequence begins near the end of
            the second exon. Alternatively spliced transcript variants that
            encode different isoforms by using the two downstream repeat units
            as splice donor sites have been described. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) encodes the shortest isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.391390.1, CD050928.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361157.11/ ENSP00000354736.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..130
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.3"
     Protein         1..130
                     /product="interferon alpha-inducible protein 6 isoform a
                     precursor"
                     /note="interferon, alpha-inducible protein clone IFI-6-16;
                     interferon-induced protein 6-16"
                     /calculated_mol_wt=10352
     sig_peptide     1..23
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2593
     Site            4..24
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P09912.2)"
     Site            41..61
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P09912.2)"
     Region          46..106
                     /region_name="Ifi-6-16"
                     /note="Interferon-induced 6-16 family; pfam06140"
                     /db_xref="CDD:428787"
     Site            75..95
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P09912.2)"
     Site            99..119
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P09912.2)"
     CDS             1..130
                     /gene="IFI6"
                     /gene_synonym="6-16; FAM14C; G1P3; IFI-6-16; IFI616"
                     /coded_by="NM_002038.4:103..495"
                     /note="isoform a precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS306.1"
                     /db_xref="GeneID:2537"
                     /db_xref="HGNC:HGNC:4054"
                     /db_xref="MIM:147572"
ORIGIN      
        1 mrqkavslfl cylllftcsg veagkkkcse ssdsgsgfwk altfmavggg lavaglpalg
       61 ftgagiaans vaaslmswsa ilngggvpag glvatlqslg aggssvvign igalmgyath
      121 kyldseedee
//
LOCUS       NP_001185524             735 aa            linear   PRI 19-FEB-2023
DEFINITION  stonin-1 [Homo sapiens].
ACCESSION   NP_001185524
VERSION     NP_001185524.1
DBSOURCE    REFSEQ: accession NM_001198595.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 735)
  AUTHORS   Zheng A, Bai J, Ha Y, Yu Y, Fan Y, Liang M, Lu Y, Shen Z, Luo B and
            Jie W.
  TITLE     Integrated analysis of the relation to tumor immune
            microenvironment and predicted value of Stonin1 gene for immune
            checkpoint blockage and targeted treatment in kidney renal clear
            cell carcinoma
  JOURNAL   BMC Cancer 23 (1), 135 (2023)
   PUBMED   36759775
  REMARK    GeneRIF: Integrated analysis of the relation to tumor immune
            microenvironment and predicted value of Stonin1 gene for immune
            checkpoint blockage and targeted treatment in kidney renal clear
            cell carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 735)
  AUTHORS   Cao CH, Wei Y, Liu R, Lin XR, Luo JQ, Zhang QJ, Lin SR, Geng L, Ye
            SK, Shi Y and Xia X.
  TITLE     Three-Dimensional Genome Interactions Identify Potential Adipocyte
            Metabolism-Associated Gene STON1 and Immune-Correlated Gene FSHR at
            the rs13405728 Locus in Polycystic Ovary Syndrome
  JOURNAL   Front Endocrinol (Lausanne) 12, 686054 (2021)
   PUBMED   34248847
  REMARK    GeneRIF: Three-Dimensional Genome Interactions Identify Potential
            Adipocyte Metabolism-Associated Gene STON1 and Immune-Correlated
            Gene FSHR at the rs13405728 Locus in Polycystic Ovary Syndrome.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 735)
  AUTHORS   Xie T, Deng L, Mei P, Zhou Y, Wang B, Zhang J, Lin J, Wei Y, Zhang
            X and Xu R.
  TITLE     Genome-wide association study combining pathway analysis for
            typical sporadic amyotrophic lateral sclerosis in Chinese Han
            populations
  JOURNAL   Neurobiol Aging 35 (7), 1778 (2014)
   PUBMED   24529757
REFERENCE   4  (residues 1 to 735)
  AUTHORS   Maritzen T, Podufall J and Haucke V.
  TITLE     Stonins--specialized adaptors for synaptic vesicle recycling and
            beyond?
  JOURNAL   Traffic 11 (1), 8-15 (2010)
   PUBMED   19732400
  REMARK    Review article
REFERENCE   5  (residues 1 to 735)
  AUTHORS   Estes PS, Jackson TC, Stimson DT, Sanyal S, Kelly LE and Ramaswami
            M.
  TITLE     Functional dissection of a eukaryotic dicistronic gene: transgenic
            stonedB, but not stonedA, restores normal synaptic properties to
            Drosophila stoned mutants
  JOURNAL   Genetics 165 (1), 185-196 (2003)
   PUBMED   14504226
  REMARK    GeneRIF: Functional analysis of an homologous Drosophila gene.
REFERENCE   6  (residues 1 to 735)
  AUTHORS   Walther K, Krauss M, Diril MK, Lemke S, Ricotta D, Honing S, Kaiser
            S and Haucke V.
  TITLE     Human stoned B interacts with AP-2 and synaptotagmin and
            facilitates clathrin-coated vesicle uncoating
  JOURNAL   EMBO Rep 2 (7), 634-640 (2001)
   PUBMED   11454741
  REMARK    Erratum:[EMBO Rep 2002 Feb;3(2):197]
REFERENCE   7  (residues 1 to 735)
  AUTHORS   Martina JA, Bonangelino CJ, Aguilar RC and Bonifacino JS.
  TITLE     Stonin 2: an adaptor-like protein that interacts with components of
            the endocytic machinery
  JOURNAL   J Cell Biol 153 (5), 1111-1120 (2001)
   PUBMED   11381094
REFERENCE   8  (residues 1 to 735)
  AUTHORS   Han SY, Zhou L, Upadhyaya A, Lee SH, Parker KL and DeJong J.
  TITLE     TFIIAalpha/beta-like factor is encoded by a germ cell-specific gene
            whose expression is up-regulated with other general transcription
            factors during spermatogenesis in the mouse
  JOURNAL   Biol Reprod 64 (2), 507-517 (2001)
   PUBMED   11159353
REFERENCE   9  (residues 1 to 735)
  AUTHORS   Upadhyaya AB, Lee SH and DeJong J.
  TITLE     Identification of a general transcription factor TFIIAalpha/beta
            homolog selectively expressed in testis
  JOURNAL   J Biol Chem 274 (25), 18040-18048 (1999)
   PUBMED   10364255
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073082.6, DB288942.1,
            AF255310.1 and BM974074.1.
            
            Summary: Endocytosis of cell surface proteins is mediated by a
            complex molecular machinery that assembles on the inner surface of
            the plasma membrane. This gene encodes one of two human homologs of
            the Drosophila melanogaster stoned B protein. This protein is
            related to components of the endocytic machinery and exhibits a
            modular structure consisting of an N-terminal proline-rich domain,
            a central region of homology specific to the human stoned B-like
            proteins, and a C-terminal region homologous to the mu subunits of
            adaptor protein (AP) complexes. Read-through transcription of this
            gene into the neighboring downstream gene, which encodes
            TFIIA-alpha/beta-like factor, generates a transcript (SALF), which
            encodes a fusion protein comprised of sequence sharing identity
            with each individual gene product. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Oct 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR936807.1, SRR18074969.594603.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..735
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.3"
     Protein         1..735
                     /product="stonin-1"
                     /note="stoned B homolog 1; stoned-b1; stoned B-like
                     factor"
                     /calculated_mol_wt=83011
     Region          1..35
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6Q2.2)"
     Region          403..716
                     /region_name="AP_stonin-1_MHD"
                     /note="Mu homology domain (MHD) of adaptor-like protein
                     (AP-like), stonin-1 (also called Stoned B-like factor);
                     cd09262"
                     /db_xref="CDD:271168"
     CDS             1..735
                     /gene="STON1"
                     /gene_synonym="SALF; SBLF; STN1; STNB1"
                     /coded_by="NM_001198595.2:228..2435"
                     /db_xref="CCDS:CCDS1841.1"
                     /db_xref="GeneID:11037"
                     /db_xref="HGNC:HGNC:17003"
                     /db_xref="MIM:605357"
ORIGIN      
        1 mcstnpgkwv tfdddpavqs sqksknfple nqgvcrpngl klnlpglref psgssstsst
       61 plsspivdfy fspgppsnsp lstptkdfpg fpgipkagth vlypipesss dsplaisgge
      121 ssllptrptc lshallpsdh scthptpkvg lpdevnpqqa eslgfqsddl pqfqyfredc
      181 afsspfwkde gsdshftldp pgskkmfssr nkempidqks lnkcslnyic eklehlqsae
      241 nqdslrslsm hclcaeenas sfvphtlfrs qpksgwsfml ripekknmms srqwgpiflk
      301 vlpggilqmy yeqglekpfk eiqldpycrl sepkvenfsv agkihtvkie hvsytekrky
      361 hsktevvhep dieqmlklgs tsyhdfldfl ttveeelmkl pavskpkkny eeqeisleiv
      421 dnfwgkvtke gkfvesavit qiyclcfvng nlecfltlnd lelpkrdesy yekdsekkgi
      481 dildyhfhkc vnvqefeqsr iikfvpldac rfelmrfktl yngdnlpfsl ksvvvvqgay
      541 velqafvnma slaqrssyag slrscdniri hfpvpsqwik alwtmnlqrq kslkakmnrr
      601 aclgslqele sepviqvtvg sakyesayqa vvwkidrlpd knssldhphc lsyklelgsd
      661 qeipsdwypf atvqfsvpdt casrtevrsl gvesdvqpqk hvqqracyni qveiekkwik
      721 idgedpdkig dcitq
//
LOCUS       NP_733800                330 aa            linear   PRI 12-MAR-2023
DEFINITION  G-protein coupled bile acid receptor 1 [Homo sapiens].
ACCESSION   NP_733800
VERSION     NP_733800.1
DBSOURCE    REFSEQ: accession NM_170699.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 330)
  AUTHORS   Zhang Y, Sun X, Zhang Y, Kang Z, Cai L, Ding J, Lu M and Hu G.
  TITLE     GPBAR1 preserves neurite and synapse of dopaminergic neurons via
            RAD21-OPCML signaling: Role in preventing Parkinson's disease in
            mouse model and human patients
  JOURNAL   Pharmacol Res 184, 106459 (2022)
   PUBMED   36152741
  REMARK    GeneRIF: GPBAR1 preserves neurite and synapse of dopaminergic
            neurons via RAD21-OPCML signaling: Role in preventing Parkinson's
            disease in mouse model and human patients.
REFERENCE   2  (residues 1 to 330)
  AUTHORS   Ma L, Yang F, Wu X, Mao C, Guo L, Miao T, Zang SK, Jiang X, Shen
            DD, Wei T, Zhou H, Wei Q, Li S, Shu Q, Feng S, Jiang C, Chu B, Du
            L, Sun JP, Yu X, Zhang Y and Zhang P.
  TITLE     Structural basis and molecular mechanism of biased GPBAR signaling
            in regulating NSCLC cell growth via YAP activity
  JOURNAL   Proc Natl Acad Sci U S A 119 (29), e2117054119 (2022)
   PUBMED   35858343
  REMARK    GeneRIF: Structural basis and molecular mechanism of biased GPBAR
            signaling in regulating NSCLC cell growth via YAP activity.
REFERENCE   3  (residues 1 to 330)
  AUTHORS   Hu J, Zhang Y, Yi S, Wang C, Huang X, Pan S, Yang J, Yuan G, Tan S
            and Li H.
  TITLE     Lithocholic acid inhibits dendritic cell activation by reducing
            intracellular glutathione via TGR5 signaling
  JOURNAL   Int J Biol Sci 18 (11), 4545-4559 (2022)
   PUBMED   35864954
  REMARK    GeneRIF: Lithocholic acid inhibits dendritic cell activation by
            reducing intracellular glutathione via TGR5 signaling.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 330)
  AUTHORS   Islam J, Cho JA, Kim JY, Park KS, Koh YJ, Chung CY, Lee EJ, Nam SJ,
            Lee K, Kim SH, Park SH, Lee DY, Kim BC, Lee KH and Seong SY.
  TITLE     GPCR19 Regulates P2X7R-Mediated NLRP3 Inflammasomal Activation of
            Microglia by Amyloid beta in a Mouse Model of Alzheimer's Disease
  JOURNAL   Front Immunol 13, 766919 (2022)
   PUBMED   35464490
  REMARK    GeneRIF: GPCR19 Regulates P2X7R-Mediated NLRP3 Inflammasomal
            Activation of Microglia by Amyloid beta in a Mouse Model of
            Alzheimer's Disease.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 330)
  AUTHORS   Biagioli M, Marchiano S, Roselli R, Di Giorgio C, Bellini R,
            Bordoni M, Distrutti E, Catalanotti B, Zampella A, Graziosi L,
            Donini A and Fiorucci S.
  TITLE     GLP-1 Mediates Regulation of Colonic ACE2 Expression by the Bile
            Acid Receptor GPBAR1 in Inflammation
  JOURNAL   Cells 11 (7), 1187 (2022)
   PUBMED   35406751
  REMARK    GeneRIF: GLP-1 Mediates Regulation of Colonic ACE2 Expression by
            the Bile Acid Receptor GPBAR1 in Inflammation.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 330)
  AUTHORS   Watanabe M, Houten SM, Mataki C, Christoffolete MA, Kim BW, Sato H,
            Messaddeq N, Harney JW, Ezaki O, Kodama T, Schoonjans K, Bianco AC
            and Auwerx J.
  TITLE     Bile acids induce energy expenditure by promoting intracellular
            thyroid hormone activation
  JOURNAL   Nature 439 (7075), 484-489 (2006)
   PUBMED   16400329
REFERENCE   7  (residues 1 to 330)
  AUTHORS   Kawamata Y, Fujii R, Hosoya M, Harada M, Yoshida H, Miwa M,
            Fukusumi S, Habata Y, Itoh T, Shintani Y, Hinuma S, Fujisawa Y and
            Fujino M.
  TITLE     A G protein-coupled receptor responsive to bile acids
  JOURNAL   J Biol Chem 278 (11), 9435-9440 (2003)
   PUBMED   12524422
  REMARK    GeneRIF: TGR5 is implicated in the suppression of macrophage
            functions by bile acids
REFERENCE   8  (residues 1 to 330)
  AUTHORS   Maruyama T, Miyamoto Y, Nakamura T, Tamai Y, Okada H, Sugiyama E,
            Nakamura T, Itadani H and Tanaka K.
  TITLE     Identification of membrane-type receptor for bile acids (M-BAR)
  JOURNAL   Biochem Biophys Res Commun 298 (5), 714-719 (2002)
   PUBMED   12419312
  REMARK    GeneRIF: Expression of BG37 was detected in various specific
            tissues, suggesting its physiological role.
REFERENCE   9  (residues 1 to 330)
  AUTHORS   Feldman DS, Zamah AM, Pierce KL, Miller WE, Kelly F, Rapacciuolo A,
            Rockman HA, Koch WJ and Luttrell LM.
  TITLE     Selective inhibition of heterotrimeric Gs signaling. Targeting the
            receptor-G protein interface using a peptide minigene encoding the
            Galpha(s) carboxyl terminus
  JOURNAL   J Biol Chem 277 (32), 28631-28640 (2002)
   PUBMED   12036966
REFERENCE   10 (residues 1 to 330)
  AUTHORS   Takeda S, Kadowaki S, Haga T, Takaesu H and Mitaku S.
  TITLE     Identification of G protein-coupled receptor genes from the human
            genome sequence
  JOURNAL   FEBS Lett 520 (1-3), 97-101 (2002)
   PUBMED   12044878
  REMARK    Erratum:[FEBS Lett 2002 Jul 17;523(1-3):257]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK122660.1, BC033625.1 and
            AC021016.5.
            
            Summary: This gene encodes a member of the G protein-coupled
            receptor (GPCR) superfamily. This enzyme functions as a cell
            surface receptor for bile acids. Treatment of cells expressing this
            GPCR with bile acids induces the production of intracellular cAMP,
            activation of a MAP kinase signaling pathway, and internalization
            of the receptor. The receptor is implicated in the suppression of
            macrophage functions and regulation of energy homeostasis by bile
            acids. Alternative splicing results in multiple transcript variants
            encoding the same protein. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, and 3 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC033625.1, BX365038.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000519574.2/ ENSP00000430202.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..330
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     Protein         1..330
                     /product="G-protein coupled bile acid receptor 1"
                     /note="G-protein coupled bile acid receptor BG37; membrane
                     bile acid receptor; membrane-type receptor for bile acids;
                     G-protein coupled receptor GPCR19"
                     /calculated_mol_wt=35117
     Site            4
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TDU6.1)"
     Site            20..40
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDU6.1)"
     Region          28..284
                     /region_name="7tm_GPCRs"
                     /note="seven-transmembrane G protein-coupled receptor
                     superfamily; cl28897"
                     /db_xref="CDD:452889"
     Region          51..72
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:410628"
     Site            51..71
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDU6.1)"
     Site            76
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TDU6.1)"
     Region          86..108
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:410628"
     Site            86..106
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDU6.1)"
     Site            126..146
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDU6.1)"
     Region          126..142
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:410628"
     Region          162..185
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:410628"
     Site            166..186
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDU6.1)"
     Region          223..245
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:410628"
     Site            229..249
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDU6.1)"
     Region          259..284
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:410628"
     Site            262..282
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDU6.1)"
     Region          309..330
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDU6.1)"
     CDS             1..330
                     /gene="GPBAR1"
                     /gene_synonym="BG37; GPCR19; GPR131; M-BAR; TGR5"
                     /coded_by="NM_170699.3:248..1240"
                     /db_xref="CCDS:CCDS46515.1"
                     /db_xref="GeneID:151306"
                     /db_xref="HGNC:HGNC:19680"
                     /db_xref="MIM:610147"
ORIGIN      
        1 mtpnstgevp spipkgalgl slalasliit anlllalgia wdrrlrsppa gcfflsllla
       61 glltglalpt lpglwnqsrr gywscllvyl apnfsflsll anlllvhger ymavlrplqp
      121 pgsirlalll twagpllfas lpalgwnhwt pgancssqai fpapylylev yglllpavga
      181 aaflsvrvla tahrqlqdic rleravcrde psalaraltw rqaraqagam llfglcwgpy
      241 vatlllsvla yeqrpplgpg tllsllslgs asaaavpvam glgdqrytap wraaaqrclq
      301 glwgrasrds pgpsiayhps sqssvdldln
//
LOCUS       NP_001191431             235 aa            linear   PRI 15-MAR-2023
DEFINITION  fms-related tyrosine kinase 3 ligand isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_001191431
VERSION     NP_001191431.1
DBSOURCE    REFSEQ: accession NM_001204502.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 235)
  AUTHORS   Cui TX, Brady AE, Zhang YJ, Fulton CT, Goldsmith AM and Popova AP.
  TITLE     Early-life hyperoxia-induced Flt3L drives neonatal lung dendritic
            cell expansion and proinflammatory responses
  JOURNAL   Front Immunol 14, 1116675 (2023)
   PUBMED   36845082
  REMARK    GeneRIF: Early-life hyperoxia-induced Flt3L drives neonatal lung
            dendritic cell expansion and proinflammatory responses.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 235)
  AUTHORS   Chen H, Wu M, Xia H, Du S, Zhou G, Long G, Zhu Y, Huang X and Yang
            D.
  TITLE     FLT3LG and IFITM3P6 consolidate T cell activity in the bone marrow
            microenvironment and are prognostic factors in acute myelocytic
            leukemia
  JOURNAL   Front Immunol 13, 980911 (2022)
   PUBMED   36081495
  REMARK    GeneRIF: FLT3LG and IFITM3P6 consolidate T cell activity in the
            bone marrow microenvironment and are prognostic factors in acute
            myelocytic leukemia.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 235)
  AUTHORS   Zhang J, Li Z, Chandrasekar A, Li S, Ludolph A, Boeckers TM,
            Huber-Lang M, Roselli F and Olde Heuvel F.
  TITLE     Fast Maturation of Splenic Dendritic Cells Upon TBI Is Associated
            With FLT3/FLT3L Signaling
  JOURNAL   Front Immunol 13, 824459 (2022)
   PUBMED   35281004
  REMARK    GeneRIF: Fast Maturation of Splenic Dendritic Cells Upon TBI Is
            Associated With FLT3/FLT3L Signaling.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 235)
  AUTHORS   Peterlin P, Gaschet J, Guillaume T, Garnier A, Eveillard M, Le
            Bourgeois A, Cherel M, Debord C, Le Bris Y, Theisen O, Godon C,
            Mahe B, Dubruille V, Wuilleme S, Touzeau C, Gastinne T, Blin N, Lok
            A, Tessoulin B, Le Gouill S, Moreau P, Bene MC and Chevallier P.
  TITLE     A new cytokine-based dynamic stratification during induction is
            highly predictive of survivals in acute myeloid leukemia
  JOURNAL   Cancer Med 10 (2), 642-648 (2021)
   PUBMED   33369136
  REMARK    GeneRIF: A new cytokine-based dynamic stratification during
            induction is highly predictive of survivals in acute myeloid
            leukemia.
REFERENCE   5  (residues 1 to 235)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 235)
  AUTHORS   Lyman SD, Stocking K, Davison B, Fletcher F, Johnson L and Escobar
            S.
  TITLE     Structural analysis of human and murine flt3 ligand genomic loci
  JOURNAL   Oncogene 11 (6), 1165-1172 (1995)
   PUBMED   7566977
REFERENCE   7  (residues 1 to 235)
  AUTHORS   Lyman SD, James L, Escobar S, Downey H, de Vries P, Brasel K,
            Stocking K, Beckmann MP, Copeland NG, Cleveland LS et al.
  TITLE     Identification of soluble and membrane-bound isoforms of the murine
            flt3 ligand generated by alternative splicing of mRNAs
  JOURNAL   Oncogene 10 (1), 149-157 (1995)
   PUBMED   7824267
REFERENCE   8  (residues 1 to 235)
  AUTHORS   Lyman SD, James L, Johnson L, Brasel K, de Vries P, Escobar SS,
            Downey H, Splett RR, Beckmann MP and McKenna HJ.
  TITLE     Cloning of the human homologue of the murine flt3 ligand: a growth
            factor for early hematopoietic progenitor cells
  JOURNAL   Blood 83 (10), 2795-2801 (1994)
   PUBMED   8180375
REFERENCE   9  (residues 1 to 235)
  AUTHORS   Hannum C, Culpepper J, Campbell D, McClanahan T, Zurawski S, Bazan
            JF, Kastelein R, Hudak S, Wagner J, Mattson J et al.
  TITLE     Ligand for FLT3/FLK2 receptor tyrosine kinase regulates growth of
            haematopoietic stem cells and is encoded by variant RNAs
  JOURNAL   Nature 368 (6472), 643-648 (1994)
   PUBMED   8145851
REFERENCE   10 (residues 1 to 235)
  AUTHORS   Lyman SD, James L, Vanden Bos T, de Vries P, Brasel K, Gliniak B,
            Hollingsworth LT, Picha KS, McKenna HJ, Splett RR et al.
  TITLE     Molecular cloning of a ligand for the flt3/flk-2 tyrosine kinase
            receptor: a proliferative factor for primitive hematopoietic cells
  JOURNAL   Cell 75 (6), 1157-1167 (1993)
   PUBMED   7505204
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB490139.2, BC144129.1, U03858.1 and BC006331.2.
            
            Summary: Dendritic cells (DCs) provide the key link between innate
            and adaptive immunity by recognizing pathogens and priming
            pathogen-specific immune responses. FLT3LG controls the development
            of DCs and is particularly important for plasmacytoid DCs and CD8
            (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM
            604682)-positive tissue counterparts (summary by Sathaliyawala et
            al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1). Variants 1, 2, and 3 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC144129.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..235
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..235
                     /product="fms-related tyrosine kinase 3 ligand isoform 1
                     precursor"
                     /note="flt3 ligand; fms related tyrosine kinase 3 ligand"
                     /calculated_mol_wt=23716
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2718
     Region          29..159
                     /region_name="Flt3_lig"
                     /note="flt3 ligand; pfam02947"
                     /db_xref="CDD:427073"
     Site            126
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P49771.1)"
     Site            149
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P49771.1)"
     Site            185..205
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P49771.1)"
     Region          213..235
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P49771.1)"
     CDS             1..235
                     /gene="FLT3LG"
                     /gene_synonym="FL; FLG3L; FLT3L"
                     /coded_by="NM_001204502.2:105..812"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS12767.1"
                     /db_xref="GeneID:2323"
                     /db_xref="HGNC:HGNC:3766"
                     /db_xref="MIM:600007"
ORIGIN      
        1 mtvlapawsp ttylllllll ssglsgtqdc sfqhspissd favkirelsd yllqdypvtv
       61 asnlqdeelc gglwrlvlaq rwmerlktva gskmqgller vnteihfvtk cafqpppscl
      121 rfvqtnisrl lqetseqlva lkpwitrqnf srclelqcqp dsstlpppws prpleatapt
      181 apqpplllll llpvglllla aawclhwqrt rrrtprpgeq vppvpspqdl llveh
//
LOCUS       NP_604391                341 aa            linear   PRI 15-MAR-2023
DEFINITION  cyclic AMP-responsive element-binding protein 1 isoform B [Homo
            sapiens].
ACCESSION   NP_604391
VERSION     NP_604391.1
DBSOURCE    REFSEQ: accession NM_134442.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 341)
  AUTHORS   Franke K, Bal G, Li Z, Zuberbier T and Babina M.
  TITLE     CREB Is Activated by the SCF/KIT Axis in a Partially ERK-Dependent
            Manner and Orchestrates Survival and the Induction of Immediate
            Early Genes in Human Skin Mast Cells
  JOURNAL   Int J Mol Sci 24 (4), 4135 (2023)
   PUBMED   36835547
  REMARK    GeneRIF: CREB Is Activated by the SCF/KIT Axis in a Partially
            ERK-Dependent Manner and Orchestrates Survival and the Induction of
            Immediate Early Genes in Human Skin Mast Cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 341)
  AUTHORS   Mocanu-Dobranici AE, Costache M and Dinescu S.
  TITLE     Insights into the Molecular Mechanisms Regulating Cell Behavior in
            Response to Magnetic Materials and Magnetic Stimulation in Stem
            Cell (Neurogenic) Differentiation
  JOURNAL   Int J Mol Sci 24 (3), 2028 (2023)
   PUBMED   36768351
  REMARK    GeneRIF: Insights into the Molecular Mechanisms Regulating Cell
            Behavior in Response to Magnetic Materials and Magnetic Stimulation
            in Stem Cell (Neurogenic) Differentiation.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 341)
  AUTHORS   Wang L, Tang X, Liang P, Zhou C, Sun Y and Liang Y.
  TITLE     Correlation between variants of the CREB1 and GRM7 genes and risk
            of depression
  JOURNAL   BMC Psychiatry 23 (1), 3 (2023)
   PUBMED   36597080
  REMARK    GeneRIF: Correlation between variants of the CREB1 and GRM7 genes
            and risk of depression.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 341)
  AUTHORS   Yang Q, Tang J, Cao J, Liu F, Fu M, Xue B, Zhou A, Chen S, Liu J,
            Zhou Y, Shi Y, Peng W and Chen X.
  TITLE     SARS-CoV-2 infection activates CREB/CBP in cellular cyclic
            AMP-dependent pathways
  JOURNAL   J Med Virol 95 (1), e28383 (2023)
   PUBMED   36477795
  REMARK    GeneRIF: SARS-CoV-2 infection activates CREB/CBP in cellular cyclic
            AMP-dependent pathways.
REFERENCE   5  (residues 1 to 341)
  AUTHORS   Geng X, Qiu X, Gao J, Gong Z, Zhou X, Liu C and Luo H.
  TITLE     CREB1 regulates KPNA2 by inhibiting mir-495-3p transcription to
            control melanoma progression : The role of the
            CREB1/miR-495-3p/KPNA2 axis in melanoma progression
  JOURNAL   BMC Mol Cell Biol 23 (1), 57 (2022)
   PUBMED   36522613
  REMARK    GeneRIF: CREB1 regulates KPNA2 by inhibiting mir-495-3p
            transcription to control melanoma progression : The role of the
            CREB1/miR-495-3p/KPNA2 axis in melanoma progression.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 341)
  AUTHORS   Meyer TE and Habener JF.
  TITLE     Cyclic AMP response element binding protein CREB and modulator
            protein CREM are products of distinct genes
  JOURNAL   Nucleic Acids Res 20 (22), 6106 (1992)
   PUBMED   1461747
REFERENCE   7  (residues 1 to 341)
  AUTHORS   Zhao LJ and Giam CZ.
  TITLE     Human T-cell lymphotropic virus type I (HTLV-I) transcriptional
            activator, Tax, enhances CREB binding to HTLV-I 21-base-pair
            repeats by protein-protein interaction
  JOURNAL   Proc Natl Acad Sci U S A 89 (15), 7070-7074 (1992)
   PUBMED   1386673
REFERENCE   8  (residues 1 to 341)
  AUTHORS   Rehfuss RP, Walton KM, Loriaux MM and Goodman RH.
  TITLE     The cAMP-regulated enhancer-binding protein ATF-1 activates
            transcription in response to cAMP-dependent protein kinase A
  JOURNAL   J Biol Chem 266 (28), 18431-18434 (1991)
   PUBMED   1655749
REFERENCE   9  (residues 1 to 341)
  AUTHORS   Short ML, Manohar CF, Furtado MR, Ghadge GD, Wolinsky SM,
            Thimmapaya B and Jungmann RA.
  TITLE     Nucleotide and derived amino-acid sequences of the CRE-binding
            proteins from rat C6 glioma and HeLa cells
  JOURNAL   Nucleic Acids Res 19 (15), 4290 (1991)
   PUBMED   1831258
REFERENCE   10 (residues 1 to 341)
  AUTHORS   Waeber G, Meyer TE, Hoeffler JP and Habener JF.
  TITLE     Diversification of cyclic AMP-responsive enhancer binding
            proteins-generated by alternative exon splicing
  JOURNAL   Trans Assoc Am Physicians 103, 28-37 (1990)
   PUBMED   1966745
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC366797.1, BC010636.1,
            AC079767.7 and BU154326.1.
            
            Summary: This gene encodes a transcription factor that is a member
            of the leucine zipper family of DNA binding proteins. This protein
            binds as a homodimer to the cAMP-responsive element, an octameric
            palindrome. The protein is phosphorylated by several protein
            kinases, and induces transcription of genes in response to hormonal
            stimulation of the cAMP pathway. Alternate splicing of this gene
            results in several transcript variants encoding different isoforms.
            [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (2, also known as B) represents
            the longest transcript and encodes the longest isoform (B).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.134865.1,
                                           SRR1803615.93160.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..341
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.3"
     Protein         1..341
                     /product="cyclic AMP-responsive element-binding protein 1
                     isoform B"
                     /note="cAMP-response element-binding protein-1; active
                     transcription factor CREB; transactivator protein; cyclic
                     AMP-responsive element-binding protein 1; cyclic adenosine
                     3',5'-monophosphate response element-binding protein CREB;
                     cyclic adenosine 3',5'-monophosphate response element
                     binding protein"
                     /calculated_mol_wt=36557
     Region          113..151
                     /region_name="pKID"
                     /note="pKID domain; pfam02173"
                     /db_xref="CDD:396650"
     Region          285..339
                     /region_name="bZIP_CREB1"
                     /note="Basic leucine zipper (bZIP) domain of Cyclic
                     AMP-responsive element-binding protein 1 (CREB1) and
                     similar proteins: a DNA-binding and dimerization domain;
                     cd14690"
                     /db_xref="CDD:269838"
     Region          286..338
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:269838"
     Site            order(286,290,292..294,296..298,300..301,303..305)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:269838"
     Site            order(304,307,311..312,314..315,318..319,321..322,325,
                     328..329,332..333,335..336)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:269838"
     CDS             1..341
                     /gene="CREB1"
                     /gene_synonym="CREB; CREB-1"
                     /coded_by="NM_134442.5:182..1207"
                     /note="isoform B is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS2375.1"
                     /db_xref="GeneID:1385"
                     /db_xref="HGNC:HGNC:2345"
                     /db_xref="MIM:123810"
ORIGIN      
        1 mtmesgaenq qsgdaavtea enqqmtvqaq pqiatlaqvs mpaahatssa ptvtlvqlpn
       61 gqtvqvhgvi qaaqpsviqs pqvqtvqssc kdlkrlfsgt qistiaesed sqesvdsvtd
      121 sqkrreilsr rpsyrkilnd lssdapgvpr ieeekseeet sapaittvtv ptpiyqtssg
      181 qyiaitqgga iqlanngtdg vqglqtltmt naaatqpgtt ilqyaqttdg qqilvpsnqv
      241 vvqaasgdvq tyqirtapts tiapgvvmas spalptqpae eaarkrevrl mknreaarec
      301 rrkkkeyvkc lenrvavlen qnktlieelk alkdlychks d
//
LOCUS       NP_001342049             603 aa            linear   PRI 15-MAR-2023
DEFINITION  replication protein A 70 kDa DNA-binding subunit isoform 2 [Homo
            sapiens].
ACCESSION   NP_001342049
VERSION     NP_001342049.1
DBSOURCE    REFSEQ: accession NM_001355120.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 603)
  AUTHORS   He J, Wang Z, Wang Y, Zou T, Li XP and Chen J.
  TITLE     The Roles of EXO1 and RPA1 Polymorphisms in Prognosis of Lung
            Cancer Patients Treated with Platinum-Based Chemotherapy
  JOURNAL   Dis Markers 2022, 3306189 (2022)
   PUBMED   36277983
  REMARK    GeneRIF: The Roles of EXO1 and RPA1 Polymorphisms in Prognosis of
            Lung Cancer Patients Treated with Platinum-Based Chemotherapy.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 603)
  AUTHORS   Han SS, Wen KK, Garcia-Rubio ML, Wold MS, Aguilera A, Niedzwiedz W
            and Vyas YM.
  TITLE     WASp modulates RPA function on single-stranded DNA in response to
            replication stress and DNA damage
  JOURNAL   Nat Commun 13 (1), 3743 (2022)
   PUBMED   35768435
  REMARK    GeneRIF: WASp modulates RPA function on single-stranded DNA in
            response to replication stress and DNA damage.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 603)
  AUTHORS   Haring SJ, Mason AC, Binz SK and Wold MS.
  TITLE     Cellular functions of human RPA1. Multiple roles of domains in
            replication, repair, and checkpoints
  JOURNAL   J Biol Chem 283 (27), 19095-19111 (2008)
   PUBMED   18469000
  REMARK    GeneRIF: as long as a threshold of RPA1-ssDNA binding activity is
            met, DNA replication can occur and that an RPA1 activity separate
            from ssDNA binding is essential for function in DNA repair.
REFERENCE   4  (residues 1 to 603)
  AUTHORS   Zou L and Elledge SJ.
  TITLE     Sensing DNA damage through ATRIP recognition of RPA-ssDNA complexes
  JOURNAL   Science 300 (5625), 1542-1548 (2003)
   PUBMED   12791985
  REMARK    GeneRIF: data suggest that RPA-coated ssDNA is the critical
            structure at sites of DNA damage that recruits the ATR-ATRIP
            complex and facilitates its recognition of substrates for
            phosphorylation and the initiation of checkpoint signaling
REFERENCE   5  (residues 1 to 603)
  AUTHORS   Gomes XV and Wold MS.
  TITLE     Functional domains of the 70-kilodalton subunit of human
            replication protein A
  JOURNAL   Biochemistry 35 (32), 10558-10568 (1996)
   PUBMED   8756712
REFERENCE   6  (residues 1 to 603)
  AUTHORS   Umbricht CB, Erdile LF, Jabs EW and Kelly TJ.
  TITLE     Cloning, overexpression, and genomic mapping of the 14-kDa subunit
            of human replication protein A
  JOURNAL   J Biol Chem 268 (9), 6131-6138 (1993)
   PUBMED   8454588
REFERENCE   7  (residues 1 to 603)
  AUTHORS   Savage,S.A. and Niewisch,M.R.
  TITLE     Dyskeratosis Congenita and Related Telomere Biology Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301779
REFERENCE   8  (residues 1 to 603)
  AUTHORS   Dornreiter I, Erdile LF, Gilbert IU, von Winkler D, Kelly TJ and
            Fanning E.
  TITLE     Interaction of DNA polymerase alpha-primase with cellular
            replication protein A and SV40 T antigen
  JOURNAL   EMBO J 11 (2), 769-776 (1992)
   PUBMED   1311258
REFERENCE   9  (residues 1 to 603)
  AUTHORS   Erdile LF, Heyer WD, Kolodner R and Kelly TJ.
  TITLE     Characterization of a cDNA encoding the 70-kDa single-stranded
            DNA-binding subunit of human replication protein A and the role of
            the protein in DNA replication
  JOURNAL   J Biol Chem 266 (18), 12090-12098 (1991)
   PUBMED   2050703
  REMARK    Erratum:[J Biol Chem 1993 Jan 25;268(3):2268]
REFERENCE   10 (residues 1 to 603)
  AUTHORS   Kenny MK, Schlegel U, Furneaux H and Hurwitz J.
  TITLE     The role of human single-stranded DNA binding protein and its
            individual subunits in simian virus 40 DNA replication
  JOURNAL   J Biol Chem 265 (13), 7693-7700 (1990)
   PUBMED   2159011
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AW966691.1, BC018126.1,
            BP364363.1, M63488.1, BP432249.1, BM666146.1, R56356.1, AC130689.8,
            BX110398.1 and BQ004759.1.
            
            Summary: This gene encodes the largest subunit of the
            heterotrimeric Replication Protein A (RPA) complex, which binds to
            single-stranded DNA (ssDNA), forming a nucleoprotein complex that
            plays an important role in DNA metabolism, being involved in DNA
            replication, repair, recombination, telomere maintenance, and
            co-ordinating the cellular response to DNA damage through
            activation of the ataxia telangiectasia and Rad3-related protein
            (ATR) kinase. The nucleoprotein complex protects the
            single-stranded DNA from nucleases, prevents formation of secondary
            structures that would interfere with repair, and co-ordinates the
            recruitment and departure of different genome maintenance factors.
            This subunit contains four oligonucleotide/oligosaccharide-binding
            (OB) domains, though the majority of ssDNA binding occurs in two of
            these domains. The heterotrimeric complex has two different modes
            of ssDNA binding, a low-affinity and high-affinity mode, determined
            by which ssDNA binding domains are utilized. The different binding
            modes differ in the length of DNA bound and in the proteins with
            which it interacts, thereby playing a role in regulating different
            genomic maintenance pathways. [provided by RefSeq, Sep 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.118582.1,
                                           SRR1803612.273321.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..603
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     Protein         1..603
                     /product="replication protein A 70 kDa DNA-binding subunit
                     isoform 2"
                     /note="MSTP075; RP-A p70; RF-A protein 1; replication
                     factor A protein 1; single-stranded DNA-binding protein;
                     replication protein A1, 70kDa"
                     /calculated_mol_wt=66766
     Region          1..599
                     /region_name="rpa1"
                     /note="replication factor-a protein 1 (rpa1); TIGR00617"
                     /db_xref="CDD:273177"
     CDS             1..603
                     /gene="RPA1"
                     /gene_synonym="HSSB; MST075; PFBMFT6; REPA1; RF-A; RP-A;
                     RPA70"
                     /coded_by="NM_001355120.2:137..1948"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:6117"
                     /db_xref="HGNC:HGNC:10289"
                     /db_xref="MIM:179835"
ORIGIN      
        1 mqkgdtnikp ilqvinirpi ttgnsppryr llmsdglntl ssfmlatqln plveeeqlss
       61 ncvcqihrfi vntlkdgrrv vilmelevlk saeavgvkig npvpyneglg qpqvappapa
      121 aspaassrpq pqngssgmgs tvskaygask tfgkaagpsl shtsggtqsk vvpiasltpy
      181 qskwticarv tnksqirtws nsrgegklfs lelvdesgei ratafneqvd kffplievnk
      241 vyyfskgtlk iankqftavk ndyemtfnne tsvmpceddh hlptvqfdft giddlenksk
      301 dslvdiigic ksyedatkit vrsnnrevak rniylmdtsg kvvtatlwge dadkfdgsrq
      361 pvlaikgarv sdfggrslsv lssstiianp dipeayklrg wfdaegqald gvsisdlksg
      421 gvggsntnwk tlyevksenl gqgdkpdyfs svatvvylrk encmyqacpt qdcnkkvidq
      481 qnglyrcekc dtefpnfkyr milsvniadf qenqwvtcfq esaeailgqn aaylgelkdk
      541 neqafeevfq nanfrsfifr vrvkvetynd esrikatvmd vkpvdyreyg rrlvmsirrs
      601 alm
//
LOCUS       NP_001309155             804 aa            linear   PRI 16-MAR-2023
DEFINITION  very low-density lipoprotein receptor isoform d precursor [Homo
            sapiens].
ACCESSION   NP_001309155
VERSION     NP_001309155.1
DBSOURCE    REFSEQ: accession NM_001322226.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 804)
  AUTHORS   Song Y, Jiao H, Lin Q, Zhang X, Chen X, Wei Z and Yi L.
  TITLE     Identification of the miR-423-3p/VLDLR Regulatory Network for
            Glioma Using Transcriptome Analysis
  JOURNAL   Neurochem Res 47 (12), 3864-3901 (2022)
   PUBMED   36352275
  REMARK    GeneRIF: Identification of the miR-423-3p/VLDLR Regulatory Network
            for Glioma Using Transcriptome Analysis.
REFERENCE   2  (residues 1 to 804)
  AUTHORS   Ma X, Takahashi Y, Wu W, Liang W, Chen J, Chakraborty D, Li Y, Du
            Y, Benyajati S and Ma JX.
  TITLE     ADAM17 mediates ectodomain shedding of the soluble VLDL receptor
            fragment in the retinal epithelium
  JOURNAL   J Biol Chem 297 (4), 101185 (2021)
   PUBMED   34509473
  REMARK    GeneRIF: ADAM17 mediates ectodomain shedding of the soluble VLDL
            receptor fragment in the retinal epithelium.
REFERENCE   3  (residues 1 to 804)
  AUTHORS   Mosapour A, Karami Tehrani FS and Atri M.
  TITLE     Expression level of VLDL receptor and VLDL-c levels in the
            malignant and benign breast tumors: The correlation with miRNA-4465
            and miRNA-1297
  JOURNAL   Mol Cell Probes 53, 101624 (2020)
   PUBMED   32711022
  REMARK    GeneRIF: Expression level of VLDL receptor and VLDL-c levels in the
            malignant and benign breast tumors: The correlation with miRNA-4465
            and miRNA-1297.
REFERENCE   4  (residues 1 to 804)
  AUTHORS   Salami A and El Shamieh S.
  TITLE     Association between SNPs of Circulating Vascular Endothelial Growth
            Factor Levels, Hypercholesterolemia and Metabolic Syndrome
  JOURNAL   Medicina (Kaunas) 55 (8), 464 (2019)
   PUBMED   31405227
  REMARK    GeneRIF: Four single nucleotide polymorphisms (SNPs); rs6921438 and
            rs4416670 in LOC100132354-C6orf223, rs6993770 in ZFPM2, and
            rs10738760 in VLDLR-KCNV2 were reported to explain up to 50% of the
            heritability of vascular endothelial growth factor circulating
            levels. These SNPs were also studied for possible associations with
            circulating lipid levels in supposedly healthy European individuals
            and in a limited number of Iranian indi
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 804)
  AUTHORS   Nakajima K, Tokita Y, Tanaka A and Takahashi S.
  TITLE     The VLDL receptor plays a key role in the metabolism of
            postprandial remnant lipoproteins
  JOURNAL   Clin Chim Acta 495, 382-393 (2019)
   PUBMED   31078566
  REMARK    GeneRIF: Postprandial VLDL particles are strongly bound and
            internalized into cells expressing the VLDL receptor. The presence
            of various specific ligands in VLDL remnants may enhance the
            capacity for binding to the VLDL receptor, which play the role
            primarily for energy delivery to the peripheral tissues, but is
            also a causal factor in atherogenic diseases when excessively
            and/or continuously remained in plasma.
REFERENCE   6  (residues 1 to 804)
  AUTHORS   Argraves KM, Battey FD, MacCalman CD, McCrae KR, Gafvels M,
            Kozarsky KF, Chappell DA, Strauss JF 3rd and Strickland DK.
  TITLE     The very low density lipoprotein receptor mediates the cellular
            catabolism of lipoprotein lipase and urokinase-plasminogen
            activator inhibitor type I complexes
  JOURNAL   J Biol Chem 270 (44), 26550-26557 (1995)
   PUBMED   7592875
REFERENCE   7  (residues 1 to 804)
  AUTHORS   Okuizumi K, Onodera O, Namba Y, Ikeda K, Yamamoto T, Seki K, Ueki
            A, Nanko S, Tanaka H, Takahashi H, Oyanagi K, Mizusawa H, Kanazawa
            I and Tsuji S.
  TITLE     Genetic association of the very low density lipoprotein (VLDL)
            receptor gene with sporadic Alzheimer's disease
  JOURNAL   Nat Genet 11 (2), 207-209 (1995)
   PUBMED   7550352
REFERENCE   8  (residues 1 to 804)
  AUTHORS   Takahashi S, Suzuki J, Kohno M, Oida K, Tamai T, Miyabo S, Yamamoto
            T and Nakai T.
  TITLE     Enhancement of the binding of triglyceride-rich lipoproteins to the
            very low density lipoprotein receptor by apolipoprotein E and
            lipoprotein lipase
  JOURNAL   J Biol Chem 270 (26), 15747-15754 (1995)
   PUBMED   7797576
REFERENCE   9  (residues 1 to 804)
  AUTHORS   Wittmaack FM, Gafvels ME, Bronner M, Matsuo H, McCrae KR,
            Tomaszewski JE, Robinson SL, Strickland DK and Strauss JF 3rd.
  TITLE     Localization and regulation of the human very low density
            lipoprotein/apolipoprotein-E receptor: trophoblast expression
            predicts a role for the receptor in placental lipid transport
  JOURNAL   Endocrinology 136 (1), 340-348 (1995)
   PUBMED   7828550
REFERENCE   10 (residues 1 to 804)
  AUTHORS   Boycott,K.M., MacDonald,S.K. and Parboosingh,J.S.
  TITLE     VLDLR Cerebellar Hypoplasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301729
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL450467.8.
            
            Summary: The low density lipoprotein receptor (LDLR) gene family
            consists of cell surface proteins involved in receptor-mediated
            endocytosis of specific ligands. This gene encodes a lipoprotein
            receptor that is a member of the LDLR family and plays important
            roles in VLDL-triglyceride metabolism and the reelin signaling
            pathway. Mutations in this gene cause VLDLR-associated cerebellar
            hypoplasia. Alternative splicing generates multiple transcript
            variants encoding distinct isoforms for this gene. [provided by
            RefSeq, Aug 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.165849.1,
                                           SRR1803613.52666.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..804
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.2"
     Protein         1..804
                     /product="very low-density lipoprotein receptor isoform d
                     precursor"
                     /note="VLDL receptor"
                     /calculated_mol_wt=86276
     sig_peptide     1..24
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2617
     Region          33..67
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(38,46,57..58)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(50,53,57,63..64)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            60..64
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          71..103
                     /region_name="LDLa"
                     /note="Low-density lipoprotein receptor domain class A;
                     smart00192"
                     /db_xref="CDD:197566"
     Site            order(77,85,96..97)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(89,92,96,102..103)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            99..103
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          113..147
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(118,126,137..138)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(130,133,137,143..144)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            140..144
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          151..183
                     /region_name="Ldl_recept_a"
                     /note="Low-density lipoprotein receptor domain class A;
                     pfam00057"
                     /db_xref="CDD:395011"
     Site            order(157,165,176..177)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(169,172,176,182..183)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            179..183
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          196..232
                     /region_name="Ldl_recept_a"
                     /note="Low-density lipoprotein receptor domain class A;
                     pfam00057"
                     /db_xref="CDD:395011"
     Site            order(203,211,222..223)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(215,218,222,228..229)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            225..229
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          235..271
                     /region_name="Ldl_recept_a"
                     /note="Low-density lipoprotein receptor domain class A;
                     pfam00057"
                     /db_xref="CDD:395011"
     Site            order(242,250,261..262)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(254,257,261,267..268)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            264..268
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          279..309
                     /region_name="Ldl_recept_a"
                     /note="Low-density lipoprotein receptor domain class A;
                     pfam00057"
                     /db_xref="CDD:395011"
     Site            order(283,291,302..303)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(295,298,302,308..309)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            305..309
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          319..353
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          355..385
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(355,358,371)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          420..458
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          440..480
                     /region_name="Ldl_recept_b"
                     /note="Low-density lipoprotein receptor repeat class B;
                     pfam00058"
                     /db_xref="CDD:425445"
     Region          464..506
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          527..567
                     /region_name="Ldl_recept_b"
                     /note="Low-density lipoprotein receptor repeat class B;
                     pfam00058"
                     /db_xref="CDD:425445"
     Region          551..593
                     /region_name="LY"
                     /note="Low-density lipoprotein-receptor YWTD domain;
                     smart00135"
                     /db_xref="CDD:214531"
     Region          614..653
                     /region_name="Ldl_recept_b"
                     /note="Low-density lipoprotein receptor repeat class B;
                     pfam00058"
                     /db_xref="CDD:425445"
     Region          665..708
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     CDS             1..804
                     /gene="VLDLR"
                     /gene_synonym="CAMRQ1; CARMQ1; CHRMQ1; VLDL-R; VLDLRCH"
                     /coded_by="NM_001322226.2:404..2818"
                     /note="isoform d precursor is encoded by transcript
                     variant 4"
                     /db_xref="CCDS:CCDS94377.1"
                     /db_xref="GeneID:7436"
                     /db_xref="HGNC:HGNC:12698"
                     /db_xref="MIM:192977"
ORIGIN      
        1 mgtsalwalw lllalcwapr esgatgtgrk akcepsqfqc tngrcitllw kcdgdedcvd
       61 gsdekncvkk tcaesdfvcn ngqcvpsrwk cdgdpdcedg sdespeqcrn itcspdeftc
      121 ssgrcisrnf vcngqddcsd gsdeldcapp tcgahefqcs tsscipiswv cdddadcsdq
      181 sdesleqcgr qpvihtkcpa seiqcgsgec ihkkwrcdgd pdckdgsdev ncpsrtcrpd
      241 qfecedgsci hgsrqcngir dcvdgsdevn cknvnqclgp gkfkcrsgec idiskvcnqe
      301 qdcrdwsdep lkechinecl vnnggcshic kdlvigyecd caagfelidr ktcgdidecq
      361 npgicsqici nlkggykcec srgyqmdlat gvckavgkep sliftnrrdi rkiglerkey
      421 iqlveqlrnt valdadiaaq klfwadlsqk aifsasiddk vgrhvkmidn vynpaaiavd
      481 wvyktiywtd aasktisvat ldgtkrkflf nsdlrepasi avdplsgfvy wsdwgepaki
      541 ekagmngfdr rplvtadiqw pngitldlik srlywldskl hmlssvdlng qdrrivlksl
      601 eflahplalt ifedrvywid geneavygan kftgselatl vnnlndaqdi ivyhelvqps
      661 gknwceedme nggceylclp apqindhspk ytcscpsgyn veengrdcqr invttavsev
      721 svppkgtsaa wailpllllv maavggylmw rnwqhknmks mnfdnpvylk tteedlsidi
      781 grhsasvght ypaisvvstd ddla
//
LOCUS       NP_001371608            1154 aa            linear   PRI 18-MAR-2023
DEFINITION  microtubule-associated protein 4 isoform 17 [Homo sapiens].
ACCESSION   NP_001371608
VERSION     NP_001371608.1
DBSOURCE    REFSEQ: accession NM_001384679.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1154)
  AUTHORS   Wang L, Paudyal SC, Kang Y, Owa M, Liang FX, Spektor A, Knaut H,
            Sanchez I and Dynlacht BD.
  TITLE     Regulators of tubulin polyglutamylation control nuclear shape and
            cilium disassembly by balancing microtubule and actin assembly
  JOURNAL   Cell Res 32 (2), 190-209 (2022)
   PUBMED   34782749
REFERENCE   2  (residues 1 to 1154)
  AUTHORS   Thapa N, Chen M, Horn HT, Choi S, Wen T and Anderson RA.
  TITLE     Phosphatidylinositol-3-OH kinase signalling is spatially organized
            at endosomal compartments by microtubule-associated protein 4
  JOURNAL   Nat Cell Biol 22 (11), 1357-1370 (2020)
   PUBMED   33139939
  REMARK    GeneRIF: Phosphatidylinositol-3-OH kinase signalling is spatially
            organized at endosomal compartments by microtubule-associated
            protein 4.
REFERENCE   3  (residues 1 to 1154)
  AUTHORS   Guo Y, Zhang X, Xu Q, Gong F, Shi X, Li C, Huang R, Nie F, Zhu W,
            Li J, Tang J, Li R, Zhang L, Chen L and Ma RZ.
  TITLE     Human Papillomavirus 16 oncoprotein E7 retards mitotic progression
            by blocking Mps1-MAP4 signaling cascade
  JOURNAL   Oncogene 38 (31), 5959-5970 (2019)
   PUBMED   31253867
  REMARK    GeneRIF: study reveals a molecular mechanism by which HPV16E7
            perturbs host mitotic progression by interfering Mps1-MAP4
            signaling cascade, which results in an extended infection window
            and may facilitate the persistent HPV16 infection
REFERENCE   4  (residues 1 to 1154)
  AUTHORS   Zhang S, Deen S, Storr SJ, Yao A and Martin SG.
  TITLE     Expression of Syk and MAP4 proteins in ovarian cancer
  JOURNAL   J Cancer Res Clin Oncol 145 (4), 909-919 (2019)
   PUBMED   30737623
  REMARK    GeneRIF: Results suggest that Syk, MAP4, and calpain-1 expression
            are correlated with each other and these proteins may be involved
            in early stages of tumour spread.
REFERENCE   5  (residues 1 to 1154)
  AUTHORS   Shigematsu H, Imasaki T, Doki C, Sumi T, Aoki M, Uchikubo-Kamo T,
            Sakamoto A, Tokuraku K, Shirouzu M and Nitta R.
  TITLE     Structural insight into microtubule stabilization and kinesin
            inhibition by Tau family MAPs
  JOURNAL   J Cell Biol 217 (12), 4155-4163 (2018)
   PUBMED   30275105
  REMARK    GeneRIF: The strongest bond of MAP4 was found around the
            intertubulin-dimer interface such that MAP4 coexists on the
            microtubule with kinesin-1 bound to the intratubulin-dimer
            interface as well.
REFERENCE   6  (residues 1 to 1154)
  AUTHORS   Ookata K, Hisanaga S, Bulinski JC, Murofushi H, Aizawa H, Itoh TJ,
            Hotani H, Okumura E, Tachibana K and Kishimoto T.
  TITLE     Cyclin B interaction with microtubule-associated protein 4 (MAP4)
            targets p34cdc2 kinase to microtubules and is a potential regulator
            of M-phase microtubule dynamics
  JOURNAL   J Cell Biol 128 (5), 849-862 (1995)
   PUBMED   7876309
REFERENCE   7  (residues 1 to 1154)
  AUTHORS   Chapin SJ, Lue CM, Yu MT and Bulinski JC.
  TITLE     Differential expression of alternatively spliced forms of MAP4: a
            repertoire of structurally different microtubule-binding domains
  JOURNAL   Biochemistry 34 (7), 2289-2301 (1995)
   PUBMED   7857940
REFERENCE   8  (residues 1 to 1154)
  AUTHORS   Chapin SJ and Bulinski JC.
  TITLE     Microtubule stabilization by assembly-promoting
            microtubule-associated proteins: a repeat performance
  JOURNAL   Cell Motil Cytoskeleton 23 (4), 236-243 (1992)
   PUBMED   1477887
  REMARK    Review article
REFERENCE   9  (residues 1 to 1154)
  AUTHORS   West RR, Tenbarge KM and Olmsted JB.
  TITLE     A model for microtubule-associated protein 4 structure. Domains
            defined by comparisons of human, mouse, and bovine sequences
  JOURNAL   J Biol Chem 266 (32), 21886-21896 (1991)
   PUBMED   1718985
REFERENCE   10 (residues 1 to 1154)
  AUTHORS   Chapin SJ and Bulinski JC.
  TITLE     Non-neuronal 210 x 10(3) Mr microtubule-associated protein (MAP4)
            contains a domain homologous to the microtubule-binding domains of
            neuronal MAP2 and tau
  JOURNAL   J Cell Sci 98 (Pt 1), 27-36 (1991)
   PUBMED   1905296
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124916.3 and AC139667.5.
            
            Summary: The protein encoded by this gene is a major non-neuronal
            microtubule-associated protein. This protein contains a domain
            similar to the microtubule-binding domains of neuronal
            microtubule-associated protein (MAP2) and microtubule-associated
            protein tau (MAPT/TAU). This protein promotes microtubule assembly,
            and has been shown to counteract destabilization of interphase
            microtubule catastrophe promotion. Cyclin B was found to interact
            with this protein, which targets cell division cycle 2 (CDC2)
            kinase to microtubules. The phosphorylation of this protein affects
            microtubule properties and cell cycle progression. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Aug 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.2599318.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1154
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..1154
                     /product="microtubule-associated protein 4 isoform 17"
                     /note="MAP-4"
                     /calculated_mol_wt=121203
     Region          <686..975
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          994..1023
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          1025..1054
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          1056..1086
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     CDS             1..1154
                     /gene="MAP4"
                     /coded_by="NM_001384679.1:96..3560"
                     /note="isoform 17 is encoded by transcript variant 8"
                     /db_xref="GeneID:4134"
                     /db_xref="HGNC:HGNC:6862"
                     /db_xref="MIM:157132"
ORIGIN      
        1 madlsladal tepspdiege ikrdfiatle aeafddvvge tvgktdyipl ldvdektgns
       61 eskkkpcset sqiedtpssk ptllangghg vegsdttgsp tefleekmay qeypnsqnwp
      121 edtnfcfqpe qvvdpiqtdp fkmyhdddla dlvfpssata dtsifagqnd plkdsygmsp
      181 cntavvpqgw svealnsphs esfvspeava eppqptavpl elakeiemas eerppaqale
      241 immglkttdm apsketemal akdmalatkt evalakdmes ptkldvtlak dmqpsmesdm
      301 alvkdmelpt ekevalvkdv rwptetdvss aknvvlptet evapakdvtl lketeraspi
      361 kmdlapskdm gppkenkket eraspikmdl apskdmgppk enkivpakdl vllseievaq
      421 andiisstei ssaekvalss etevalardm tlppetnvil tkdkalplea evapvkdmaq
      481 lpeteiapak dvapstvkev gllkdmspls etemalgkdv tpppetevvl iknvclppem
      541 evaltedqvp alkteaplak dgvltlannv tpakdvppls eteatpvpik dmeiaqtqkg
      601 isedshlesl qdvgqsaapt fmispetvtg tgkkcslpae edsvleklge rkpcnsqpse
      661 lssetsvcls sstvyqqlgm svygiarpee grpvvsgtgn dittppnkel ppspekktkp
      721 lattqpakts tskaktqpts lpkqpaptti gglnkkpmsl asglvpaapp krpavasarp
      781 silpskdvkp kpiadakape kraspskpas apasrsgsks tqtvakttta aavastgpss
      841 rspstllpkk ptaiktegkp aevkkmtaks vpadlsrpks tstssmkktt tlsgtapaag
      901 vvpsrvkatp mpsrpsttpf idkkptsakp ssttprlsrl atntsapdlk nvrskakvek
      961 kteaaattrk pesnavtkta gpiasaqkqp agkvqivskk vsyshiqskc gskdnikhvp
     1021 gggnvqiqnk kvdiskvssk cgskanikhk pgggdvkies qklnfkekaq akvgsldnvg
     1081 hlpaggavkt egggseaplc pgppageepa iseaapeaga ptsasglngh ptlsgggdqr
     1141 eaqtldsqiq etsi
//
LOCUS       NP_001371460             633 aa            linear   PRI 19-MAR-2023
DEFINITION  transcriptional repressor p66-alpha isoform 2 [Homo sapiens].
ACCESSION   NP_001371460
VERSION     NP_001371460.1
DBSOURCE    REFSEQ: accession NM_001384531.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 633)
  AUTHORS   Dias KR, Carlston CM, Blok LER, De Hayr L, Nawaz U, Evans CA,
            Bayrak-Toydemir P, Htun S, Zhu Y, Ma A, Lynch SA, Moorwood C, Stals
            K, Ellard S, Bainbridge MN, Friedman J, Pappas JG, Rabin R, Nowak
            CB, Douglas J, Wilson TE, Guillen Sacoto MJ, Mullegama SV,
            Palculict TB, Kirk EP, Pinner JR, Edwards M, Montanari F, Graziano
            C, Pippucci T, Dingmann B, Glass I, Mefford HC, Shimoji T, Suzuki
            T, Yamakawa K, Streff H, Schaaf CP, Slavotinek AM, Voineagu I,
            Carey JC, Buckley MF, Schenck A, Harvey RJ and Roscioli T.
  TITLE     De Novo ZMYND8 variants result in an autosomal dominant
            neurodevelopmental disorder with cardiac malformations
  JOURNAL   Genet Med 24 (9), 1952-1966 (2022)
   PUBMED   35916866
REFERENCE   2  (residues 1 to 633)
  AUTHORS   Zhang M, Wu L, Wang X and Chen J.
  TITLE     lncKRT16P6 promotes tongue squamous cell carcinoma progression by
            sponging miR-3180 and regulating GATAD2A expression
  JOURNAL   Int J Oncol 61 (3) (2022)
   PUBMED   35904180
  REMARK    GeneRIF: lncKRT16P6 promotes tongue squamous cell carcinoma
            progression by sponging miR3180 and regulating GATAD2A expression.
REFERENCE   3  (residues 1 to 633)
  AUTHORS   Zhang Q, Zhang Y, Zhang J, Zhang D, Li M, Yan H, Zhang H, Song L,
            Wang J, Hou Z, Yang Y and Zou X.
  TITLE     p66alpha Suppresses Breast Cancer Cell Growth and Migration by
            Acting as Co-Activator of p53
  JOURNAL   Cells 10 (12), 3593 (2021)
   PUBMED   34944103
  REMARK    GeneRIF: p66alpha Suppresses Breast Cancer Cell Growth and
            Migration by Acting as Co-Activator of p53.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 633)
  AUTHORS   Liang Y, Zhang X, Liu Y, Wang L, Ye Y, Tan X, Pu J, Zhang Q, Bao X,
            Wei X, Li D, Kurita R, Nakamura Y, Li D and Xu X.
  TITLE     GATA zinc finger domain-containing protein 2A (GATAD2A) deficiency
            reactivates fetal haemoglobin in patients with beta-thalassaemia
            through impaired formation of methyl-binding domain protein 2
            (MBD2)-containing nucleosome remodelling and deacetylation (NuRD)
            complex
  JOURNAL   Br J Haematol 193 (6), 1220-1227 (2021)
   PUBMED   33997955
  REMARK    GeneRIF: GATA zinc finger domain-containing protein 2A (GATAD2A)
            deficiency reactivates fetal haemoglobin in patients with
            beta-thalassaemia through impaired formation of methyl-binding
            domain protein 2 (MBD2)-containing nucleosome remodelling and
            deacetylation (NuRD) complex.
REFERENCE   5  (residues 1 to 633)
  AUTHORS   Beddok A, Perot G, Le Guellec S, Thebault N, Coutte A, Sevestre H,
            Chauffert B and Chibon F.
  TITLE     Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a
            glomangiopericytal tumor and five different sarcomas over a 10-year
            period
  JOURNAL   Sci Rep 11 (1), 9765 (2021)
   PUBMED   33963205
  REMARK    GeneRIF: Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a
            patient with a glomangiopericytal tumor and five different sarcomas
            over a 10-year period.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 633)
  AUTHORS   Le Guezennec X, Vermeulen M, Brinkman AB, Hoeijmakers WA, Cohen A,
            Lasonder E and Stunnenberg HG.
  TITLE     MBD2/NuRD and MBD3/NuRD, two distinct complexes with different
            biochemical and functional properties
  JOURNAL   Mol Cell Biol 26 (3), 843-851 (2006)
   PUBMED   16428440
REFERENCE   7  (residues 1 to 633)
  AUTHORS   Brackertz M, Gong Z, Leers J and Renkawitz R.
  TITLE     p66alpha and p66beta of the Mi-2/NuRD complex mediate MBD2 and
            histone interaction
  JOURNAL   Nucleic Acids Res 34 (2), 397-406 (2006)
   PUBMED   16415179
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 633)
  AUTHORS   Brackertz M, Boeke J, Zhang R and Renkawitz R.
  TITLE     Two highly related p66 proteins comprise a new family of potent
            transcriptional repressors interacting with MBD2 and MBD3
  JOURNAL   J Biol Chem 277 (43), 40958-40966 (2002)
   PUBMED   12183469
REFERENCE   9  (residues 1 to 633)
  AUTHORS   Zhang Y, Ng HH, Erdjument-Bromage H, Tempst P, Bird A and Reinberg
            D.
  TITLE     Analysis of the NuRD subunits reveals a histone deacetylase core
            complex and a connection with DNA methylation
  JOURNAL   Genes Dev 13 (15), 1924-1935 (1999)
   PUBMED   10444591
REFERENCE   10 (residues 1 to 633)
  AUTHORS   Zhang Y, LeRoy G, Seelig HP, Lane WS and Reinberg D.
  TITLE     The dermatomyositis-specific autoantigen Mi2 is a component of a
            complex containing histone deacetylase and nucleosome remodeling
            activities
  JOURNAL   Cell 95 (2), 279-289 (1998)
   PUBMED   9790534
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC003030.1, KC877710.1 and AC011448.5.
            
            Transcript Variant: This variant (23) differs in the 5' UTR
            compared to variant 2. Variants 2 and 21-25 all encode the same
            isoform (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AY186731.1, SRR14038193.4028742.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1968968, SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..633
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     Protein         1..633
                     /product="transcriptional repressor p66-alpha isoform 2"
                     /note="transcriptional repressor p66-alpha; GATA zinc
                     finger domain-containing protein 2A"
                     /calculated_mol_wt=67932
     Region          1..59
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            20
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            49
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q86YP4.1)"
     Region          73..119
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            100
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            107
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            113
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8CHY6; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            114
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Region          137..173
                     /region_name="P66_CC"
                     /note="Coiled-coil and interaction region of P66A and P66B
                     with MBD2; pfam16563"
                     /db_xref="CDD:406867"
     Site            137
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Region          144..178
                     /region_name="CR1, interaction with HDAC1, HDAC2, MBD2 and
                     MTA2. /evidence=ECO:0000269|PubMed:12183469,
                     ECO:0000269|PubMed:33283408"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86YP4.1)"
     Region          172..238
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86YP4.1)"
     Region          181..295
                     /region_name="Interaction with ZMYND8.
                     /evidence=ECO:0000269|PubMed:27732854"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            189
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            225
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8CHY6; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            249
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            258
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            273
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            275
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            285
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Region          340..480
                     /region_name="CR2, histone tail-binding and interaction
                     with CHD4 and CDK2AP1.
                     /evidence=ECO:0000269|PubMed:16415179,
                     ECO:0000269|PubMed:33283408"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            340
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            343
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Region          417..451
                     /region_name="GATA"
                     /note="GATA zinc finger; pfam00320"
                     /db_xref="CDD:425605"
     Site            512
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            539
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            546
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            548
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            556
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     Region          561..585
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86YP4.1)"
     Site            598
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86YP4.1)"
     CDS             1..633
                     /gene="GATAD2A"
                     /gene_synonym="p66alpha"
                     /coded_by="NM_001384531.1:474..2375"
                     /note="isoform 2 is encoded by transcript variant 23"
                     /db_xref="CCDS:CCDS12402.2"
                     /db_xref="GeneID:54815"
                     /db_xref="HGNC:HGNC:29989"
                     /db_xref="MIM:614997"
ORIGIN      
        1 mteeacrtrs qkralerdpt eddveskkik mergllasdl ntdgdmrvtp epgagptqgl
       61 lrateatama mgrgeglvgd gpvdmrtshs dmkserrpps pdvivlsdne qpssprvngl
      121 ttvalketst ealmksspee rermikqlke elrleeaklv llkklrqsqi qkeataqkpt
      181 gsvgstvttp pplvrgtqni pagkpslqts sarmpgsvip pplvrggqqa ssklgpqass
      241 qvvmpplvrg aqqihsirqh sstgppplll aprasvpsvq iqgqriiqqg lirvanvpnt
      301 sllvnipqpt paslkgttat saqanstpts vasvvtsaes pasrqaaakl alrkqlektl
      361 leipppkppa pemnflpsaa nnefiylvgl eevvqnllet qgrmsaatvl srepymcaqc
      421 ktdftcrwre eksgaimcen cmttnqkkal kvehtsrlka afvkalqqeq eieqrllqqg
      481 tapaqakaep taaphpvlkq vikprrklaf rsgeardwsn gavlqassql srgsattprg
      541 vlhtfspspk lqnsasatal vsrtgrhser tvsagkgsat snwkktplst ggtlafvsps
      601 lavhksssav drqreylldm ipprsipqsa twk
//
LOCUS       XP_011538899            1052 aa            linear   PRI 20-MAR-2023
DEFINITION  forkhead-associated domain-containing protein 1 isoform X29 [Homo
            sapiens].
ACCESSION   XP_011538899
VERSION     XP_011538899.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011540597.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1052
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1052
                     /product="forkhead-associated domain-containing protein 1
                     isoform X29"
                     /calculated_mol_wt=121136
     Region          19..114
                     /region_name="FHA_FHAD1"
                     /note="forkhead associated (FHA) domain found in
                     forkhead-associated domain-containing protein 1 (FHAD1)
                     and similar proteins; cd22700"
                     /db_xref="CDD:438752"
     Region          36..>202
                     /region_name="VI_FHA"
                     /note="type VI secretion system FHA domain protein;
                     TIGR03354"
                     /db_xref="CDD:274537"
     Site            order(38..39,53..54,56,75,77..78)
                     /site_type="other"
                     /note="putative phosphopeptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438752"
     Region          261..1009
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1052
                     /gene="FHAD1"
                     /coded_by="XM_011540597.4:205..3363"
                     /db_xref="GeneID:114827"
                     /db_xref="HGNC:HGNC:29408"
ORIGIN      
        1 mtslepcrlf iygktermka ylksaegffv lnksttigrh ensdlvlqsp didnhhalie
       61 yneaecsfvl qdfnsrngtf vnechiqnva vklipgdilr fgsagltyel vienpppvsf
      121 pwmrgpapwp gpqppratqq pnqapppshi pfhqgvqpap mqrswsqafp rptvvlpash
      181 rrpvsankem fsfvvddark ppvikqvwtn amklseksva egipgavppa eiyveedlaq
      241 qdkdeiilll gkevsrlsdy eieskykdvi ianlqnevae lsqkvsettt srqnekeisq
      301 kcqvldedid akqkeiqslk sqisalqkgy skvlcqtlse rnseitslkn egenlkrdna
      361 itsgmvsslq kdilakdeqv qqlkeevshl ksqnkdkdhq lealgsrcsv lkeelkqeda
      421 hrelreaqek elklcktqiq dmekemkklr aelrkscteq svisrtlrek skveeklqed
      481 srrkllqlqe mgnresviki nleravgqle hfrsqvikat ygrakpfrdk pvtdqqliek
      541 itqvtednin fqqkkwtlqk etqlsnskqe ettenieklr tsldscqacm kisccshdlk
      601 kevdllqhlq vsppvsglqk vvldvlrhal swleeveqll rdlgilpssp nkgfslyliy
      661 llehykklms qaqelqikfn ssqetqqsll qeklrehlae keklneerle qeeklkakir
      721 qlteekaale eyitqernra ketleeerkr mqelesllaq qkkalaksit qeknrvkeal
      781 eeeqtrvqel eerlarqkev lessiahekr kakealesek rkvqdlenhl tqqkeisesn
      841 iayekrkake amekekkkvq dlenrltkqk eelelkeqke dvlnnklsda lamveetqkt
      901 kateslkaes lalklnetla elettktkmi mveerlilqq kmvkalqdeq esqrhgfeee
      961 imeykeqikq haqtivslee klqkvtqhhk kiegeiatlk dndpapkeer pqdplvapmt
     1021 essakdmaye hliestkksi lkeltvfret nv
//
LOCUS       XP_047272230             332 aa            linear   PRI 20-MAR-2023
DEFINITION  flavin-containing monooxygenase 5 isoform X3 [Homo sapiens].
ACCESSION   XP_047272230
VERSION     XP_047272230.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416274.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..332
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..332
                     /product="flavin-containing monooxygenase 5 isoform X3"
                     /calculated_mol_wt=37425
     Region          3..>282
                     /region_name="FMO-like"
                     /note="Flavin-binding monooxygenase-like; pfam00743"
                     /db_xref="CDD:395602"
     CDS             1..332
                     /gene="FMO5"
                     /gene_synonym="hBVMO1"
                     /coded_by="XM_047416274.1:86..1084"
                     /db_xref="GeneID:2330"
                     /db_xref="HGNC:HGNC:3773"
                     /db_xref="MIM:603957"
ORIGIN      
        1 mtkkriavig ggvsglssik ccveeglepv cfertddigg lwrfqenpee grasiyksvi
       61 intskemmcf sdypipdhyp nfmhnaqvle yfrmyakefd llkyirfktt vcsvkkqpdf
      121 atsgqwevvt esegkkemnv fdgvmvctgh htnahlples fpgiekfkgq yfhsrdyknp
      181 egftgkrvii igignsggdl aveisqtakq vflstrrgaw ilnrvgdygy padvlfssrl
      241 thfiwkicgq slankylekk inqrfdhemf glkpkhrfir henlwflrgl lsghvngflq
      301 aghgasssqg sglrpdaqgg setlfrirrg cv
//
LOCUS       XP_005252485            1622 aa            linear   PRI 20-MAR-2023
DEFINITION  disco-interacting protein 2 homolog C isoform X1 [Homo sapiens].
ACCESSION   XP_005252485
VERSION     XP_005252485.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005252428.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1622
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1622
                     /product="disco-interacting protein 2 homolog C isoform
                     X1"
                     /calculated_mol_wt=177956
     Region          8..174
                     /region_name="DMAP_binding"
                     /note="DMAP1-binding Domain; pfam06464"
                     /db_xref="CDD:368923"
     Region          392..968
                     /region_name="Dip2"
                     /note="Disco-interacting protein 2 (Dip2); cd05905"
                     /db_xref="CDD:341231"
     Site            order(553,556..561,563..564)
                     /site_type="other"
                     /note="putative acyl-activating enzyme (AAE) consensus
                     motif"
                     /db_xref="CDD:341231"
     Site            order(556,676..677,735..740,833,845,848,859,948)
                     /site_type="other"
                     /note="putative AMP binding site [chemical binding]"
                     /db_xref="CDD:341231"
     Site            order(556,597..598,648,650..651,654,676..677,695..700,833,
                     845,848,856..859,929)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:341231"
     Site            order(597,650..651,654,676,856..858,916,929)
                     /site_type="other"
                     /note="putative CoA binding site [chemical binding]"
                     /db_xref="CDD:341231"
     Region          1044..1618
                     /region_name="Dip2"
                     /note="Disco-interacting protein 2 (Dip2); cd05905"
                     /db_xref="CDD:341231"
     Site            order(1193,1196..1201,1203..1204)
                     /site_type="other"
                     /note="putative acyl-activating enzyme (AAE) consensus
                     motif"
                     /db_xref="CDD:341231"
     Site            order(1196,1322..1323,1387..1392,1483,1505,1508,1519,1598)
                     /site_type="other"
                     /note="putative AMP binding site [chemical binding]"
                     /db_xref="CDD:341231"
     Site            order(1196,1237..1238,1288,1290..1291,1294,1322..1323,
                     1340..1345,1483,1505,1508,1516..1519,1579)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:341231"
     Site            order(1237,1290..1291,1294,1322,1516..1518,1566,1579)
                     /site_type="other"
                     /note="putative CoA binding site [chemical binding]"
                     /db_xref="CDD:341231"
     CDS             1..1622
                     /gene="DIP2C"
                     /gene_synonym="KIAA0934"
                     /coded_by="XM_005252428.5:91..4959"
                     /db_xref="GeneID:22982"
                     /db_xref="HGNC:HGNC:29150"
                     /db_xref="MIM:611380"
ORIGIN      
        1 madrslegma lplevrarla elelelsegd itqkgyekkr skligaylpq pptangaavv
       61 rcrlqhsega prrtfrsahi gvcdvreaaa rervastagn rplfyfrfgv dqalpqerra
      121 pvtpssasry hrrrssgsrd eryrsdvhte avqaalakhk erkmavpmps krrslvvqts
      181 mdaytppdts sgsedegsvq gdsqgtptss qgsinmehwi sqaihgstts ttsssstqsg
      241 gsgaahrlad vmaqthienh sappdvttyt sehsiqverp qgstgsrtap kygnaelmet
      301 gdgvpvssrv sakiqqlvnt lkrpkrpplr effvddfeel levqqpdpnq pkpegaqmla
      361 mrgeqlgvvt nwppsleaal qrwgtispka pclttmdtng kplyiltygk lwtrsmkvay
      421 silhklgtkq epmvrpgdrv alvfpnndpa afmaafygcl laevvpvpie vpltrkdags
      481 qqigfllgsc gvtvaltsda chkglpkspt geipqfkgwp kllwfvtesk hlskpprdwf
      541 phikdanndt ayieyktckd gsvlgvtvtr tallthcqal tqacgyteae tivnvldfkk
      601 dvglwhgilt svmnmmhvis ipyslmkvnp lswiqkvcqy kakvacvksr dmhwalvahr
      661 dqrdinlssl rmlivadgan pwsisscdaf lnvfqskglr qevicpcass pealtvairr
      721 ptddsnqppg rgvlsmhglt ygvirvdsee klsvltvqdv glvmpgaimc svkpdgvpql
      781 crtdeigelc vcavatgtsy yglsgmtknt fevfpmtssg apiseypfir tgllgfvgpg
      841 glvfvvgkmd glmvvsgrrh naddivatal avepmkfvyr griavfsvtv lhderiviva
      901 eqrpdsteed sfqwmsrvlq aidsihqvgv yclalvpant lpktplggih lsetkqlfle
      961 gslhpcnvlm cphtcvtnlp kprqkqpeig pasvmvgnlv sgkriaqasg rdlgqiednd
     1021 qarkflflse vlqwraqttp dhilytllnc rgaiansltc vqlhkraeki avmlmerghl
     1081 qdgdhvalvy ppgidliaaf ygclyagcvp itvrpphpqn iattlptvkm ivevsrsacl
     1141 mttqlickll rsreaaaavd vrtwplildt ddlpkkrpaq ickpcnpdtl ayldfsvstt
     1201 gmlagvkmsh aatsafcrsi klqcelypsr evaicldpyc glgfvlwclc svysghqsil
     1261 ippseletnp alwllavsqy kvrdtfcsys vmelctkglg sqteslkarg ldlsrvrtcv
     1321 vvaeerpria ltqsfsklfk dlglhpravs tsfgcrvnla iclqphrlwt laeqgtsgpd
     1381 pttvyvdmra lrhdrvrlve rgsphslplm esgkilpgvr iiianpetkg plgdshlgei
     1441 wvhsahnasg yftiygdesl qsdhfnsrls fgdtqtiwar tgylgflrrt eltdangerh
     1501 dalyvvgald eamelrgmry hpidietsvi rahksvteca vftwtnllvv vveldgseqe
     1561 aldlvplvtn vvleehyliv gvvvvvdigv ipinsrgekq rmhlrdgfla dqldpiyvay
     1621 nm
//
LOCUS       XP_005252483            1612 aa            linear   PRI 20-MAR-2023
DEFINITION  disco-interacting protein 2 homolog C isoform X3 [Homo sapiens].
ACCESSION   XP_005252483
VERSION     XP_005252483.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005252426.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1612
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1612
                     /product="disco-interacting protein 2 homolog C isoform
                     X3"
                     /calculated_mol_wt=176724
     Region          8..174
                     /region_name="DMAP_binding"
                     /note="DMAP1-binding Domain; pfam06464"
                     /db_xref="CDD:368923"
     Region          392..968
                     /region_name="Dip2"
                     /note="Disco-interacting protein 2 (Dip2); cd05905"
                     /db_xref="CDD:341231"
     Site            order(553,556..561,563..564)
                     /site_type="other"
                     /note="putative acyl-activating enzyme (AAE) consensus
                     motif"
                     /db_xref="CDD:341231"
     Site            order(556,676..677,735..740,833,845,848,859,948)
                     /site_type="other"
                     /note="putative AMP binding site [chemical binding]"
                     /db_xref="CDD:341231"
     Site            order(556,597..598,648,650..651,654,676..677,695..700,833,
                     845,848,856..859,929)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:341231"
     Site            order(597,650..651,654,676,856..858,916,929)
                     /site_type="other"
                     /note="putative CoA binding site [chemical binding]"
                     /db_xref="CDD:341231"
     Region          1044..1608
                     /region_name="Dip2"
                     /note="Disco-interacting protein 2 (Dip2); cd05905"
                     /db_xref="CDD:341231"
     Site            order(1193,1196..1201,1203..1204)
                     /site_type="other"
                     /note="putative acyl-activating enzyme (AAE) consensus
                     motif"
                     /db_xref="CDD:341231"
     Site            order(1196,1322..1323,1377..1382,1473,1495,1498,1509,1588)
                     /site_type="other"
                     /note="putative AMP binding site [chemical binding]"
                     /db_xref="CDD:341231"
     Site            order(1196,1237..1238,1288,1290..1291,1294,1322..1323,
                     1340..1345,1473,1495,1498,1506..1509,1569)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:341231"
     Site            order(1237,1290..1291,1294,1322,1506..1508,1556,1569)
                     /site_type="other"
                     /note="putative CoA binding site [chemical binding]"
                     /db_xref="CDD:341231"
     CDS             1..1612
                     /gene="DIP2C"
                     /gene_synonym="KIAA0934"
                     /coded_by="XM_005252426.4:91..4929"
                     /db_xref="GeneID:22982"
                     /db_xref="HGNC:HGNC:29150"
                     /db_xref="MIM:611380"
ORIGIN      
        1 madrslegma lplevrarla elelelsegd itqkgyekkr skligaylpq pptangaavv
       61 rcrlqhsega prrtfrsahi gvcdvreaaa rervastagn rplfyfrfgv dqalpqerra
      121 pvtpssasry hrrrssgsrd eryrsdvhte avqaalakhk erkmavpmps krrslvvqts
      181 mdaytppdts sgsedegsvq gdsqgtptss qgsinmehwi sqaihgstts ttsssstqsg
      241 gsgaahrlad vmaqthienh sappdvttyt sehsiqverp qgstgsrtap kygnaelmet
      301 gdgvpvssrv sakiqqlvnt lkrpkrpplr effvddfeel levqqpdpnq pkpegaqmla
      361 mrgeqlgvvt nwppsleaal qrwgtispka pclttmdtng kplyiltygk lwtrsmkvay
      421 silhklgtkq epmvrpgdrv alvfpnndpa afmaafygcl laevvpvpie vpltrkdags
      481 qqigfllgsc gvtvaltsda chkglpkspt geipqfkgwp kllwfvtesk hlskpprdwf
      541 phikdanndt ayieyktckd gsvlgvtvtr tallthcqal tqacgyteae tivnvldfkk
      601 dvglwhgilt svmnmmhvis ipyslmkvnp lswiqkvcqy kakvacvksr dmhwalvahr
      661 dqrdinlssl rmlivadgan pwsisscdaf lnvfqskglr qevicpcass pealtvairr
      721 ptddsnqppg rgvlsmhglt ygvirvdsee klsvltvqdv glvmpgaimc svkpdgvpql
      781 crtdeigelc vcavatgtsy yglsgmtknt fevfpmtssg apiseypfir tgllgfvgpg
      841 glvfvvgkmd glmvvsgrrh naddivatal avepmkfvyr griavfsvtv lhderiviva
      901 eqrpdsteed sfqwmsrvlq aidsihqvgv yclalvpant lpktplggih lsetkqlfle
      961 gslhpcnvlm cphtcvtnlp kprqkqpeig pasvmvgnlv sgkriaqasg rdlgqiednd
     1021 qarkflflse vlqwraqttp dhilytllnc rgaiansltc vqlhkraeki avmlmerghl
     1081 qdgdhvalvy ppgidliaaf ygclyagcvp itvrpphpqn iattlptvkm ivevsrsacl
     1141 mttqlickll rsreaaaavd vrtwplildt ddlpkkrpaq ickpcnpdtl ayldfsvstt
     1201 gmlagvkmsh aatsafcrsi klqcelypsr evaicldpyc glgfvlwclc svysghqsil
     1261 ippseletnp alwllavsqy kvrdtfcsys vmelctkglg sqteslkarg ldlsrvrtcv
     1321 vvaeerpria ltqsfsklfk dlglhpravs tsfgcrvnla iclqgtsgpd pttvyvdmra
     1381 lrhdrvrlve rgsphslplm esgkilpgvr iiianpetkg plgdshlgei wvhsahnasg
     1441 yftiygdesl qsdhfnsrls fgdtqtiwar tgylgflrrt eltdangerh dalyvvgald
     1501 eamelrgmry hpidietsvi rahksvteca vftwtnllvv vveldgseqe aldlvplvtn
     1561 vvleehyliv gvvvvvdigv ipinsrgekq rmhlrdgfla dqldpiyvay nm
//
LOCUS       XP_011538264            1189 aa            linear   PRI 20-MAR-2023
DEFINITION  tudor domain-containing protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_011538264
VERSION     XP_011538264.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011539962.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1189
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1189
                     /product="tudor domain-containing protein 1 isoform X1"
                     /calculated_mol_wt=132759
     Region          170..206
                     /region_name="zf-MYND"
                     /note="MYND finger; pfam01753"
                     /db_xref="CDD:426410"
     Region          268..396
                     /region_name="Tudor_TDRD1_rpt1"
                     /note="first Tudor domain found in Tudor domain-containing
                     protein 1 (TDRD1) and similar proteins; cd20408"
                     /db_xref="CDD:410479"
     Site            order(323,330,348,351,353)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410479"
     Region          517..598
                     /region_name="Tudor_TDRD1_rpt2"
                     /note="second Tudor domain found in Tudor
                     domain-containing protein 1 (TDRD1) and similar proteins;
                     cd20409"
                     /db_xref="CDD:410480"
     Site            order(552,559,576,579,581)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410480"
     Region          715..832
                     /region_name="TUDOR"
                     /note="Tudor domain; pfam00567"
                     /db_xref="CDD:425754"
     Region          944..1059
                     /region_name="Tudor_TDRD1_rpt4"
                     /note="fourth Tudor domain found in Tudor
                     domain-containing protein 1 (TDRD1) and similar proteins;
                     cd20411"
                     /db_xref="CDD:410482"
     Site            order(1001,1008,1024,1027,1029)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410482"
     CDS             1..1189
                     /gene="TDRD1"
                     /gene_synonym="CT41.1"
                     /coded_by="XM_011539962.2:29..3598"
                     /db_xref="GeneID:56165"
                     /db_xref="HGNC:HGNC:11712"
                     /db_xref="MIM:605796"
ORIGIN      
        1 msvkspfnvm srnnleappc kmtepfnfek nenklpphes lrspgtlpnh pnfrlkssen
       61 gnkknnfllc eqtkqylasq ednsvssnpn gingevvgsk gdrkklpagn svsppsaesn
      121 sppkevnikp gnnvrpaksk klnklvensl sisnpglfts lgpplrsttc hrcglfgslr
      181 csqckqtyyc stacqrrdws ahsivcrpvq pnfhklenks sietkdvevn nksdcplgvt
      241 keiaiwaeri mfsdlrslql kktmeikgtv tefkhpgdfy vqlyssevle ymnqlsaslk
      301 etyanvhekd yipvkgevci akytvdqtwn raiiqnvdvq qkkahvlyid ygneeiipln
      361 riyhlnrnid lfppcaikcf vanvipaegn wssdcikatk pllmeqycsi kivdileeev
      421 vtfavevelp nsgklldhvl iemgyglkps gqdskkenad qsdpedvgkm ttennivvdk
      481 sdlipkvltl nvgdefcgvv ahiqtpedff cqqlqsgrkl aelqaslsky cdqlpprsdf
      541 ypaigdicca qfseddqwyr asvlayasee svlvgyvdyg nfeilslmrl cpiipkllel
      601 pmqaikcvla gvkpslgiwt peaiclmkkl vqnkiitvkv vdklensslv elidksetph
      661 vsvskvllda gfavgeqsmv tdkpsdvket svplgvegkv nplewtwvel gvdqtvdvvv
      721 cviyspgefy chvlkedalk klndlnksla ehcqqklpng fkaeigqpcc affagdgswy
      781 ralvkeilpn ghvkvhfvdy gnieevtade lrmisstfln lpfqgircql adiqsrnkhw
      841 seeaitrfqm cvagiklqar vvevtengig veltdlstcy priisdvlid ehlvlksasp
      901 hkdlpndrlv nkhelqvhvq glqatssaeq wktielpvdk tiqanvleii spnlfyalpk
      961 gmpenqeklc mltaelleyc napksrppyr prigdaccak ytsddfwyra vvlgtsdtdv
     1021 evlyadygni etlplcrvqp itsshlalpf qiircslegl melngsssql iimllknfml
     1081 nqnvmlsvkg itknvhtvsv ekcsengtvd vadklvtfgl aknitpqrqs alntekmyrm
     1141 nccctelqkq vekhehillf llnnstnqnk fiemkkllkk taslggkpl
//
LOCUS       XP_047282322             316 aa            linear   PRI 20-MAR-2023
DEFINITION  PIH1 domain-containing protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047282322
VERSION     XP_047282322.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426366.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..316
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..316
                     /product="PIH1 domain-containing protein 2 isoform X1"
                     /calculated_mol_wt=35688
     Region          25..160
                     /region_name="alpha-crystallin-Hsps_p23-like"
                     /note="alpha-crystallin domain (ACD) found in
                     alpha-crystallin-type small heat shock proteins, and a
                     similar domain found in p23 (a cochaperone for Hsp90) and
                     in other p23-like proteins; cl00175"
                     /db_xref="CDD:444727"
     CDS             1..316
                     /gene="PIH1D2"
                     /gene_synonym="DNAAF15"
                     /coded_by="XM_047426366.1:120..1070"
                     /db_xref="GeneID:120379"
                     /db_xref="HGNC:HGNC:25210"
ORIGIN      
        1 metsskgllt qvtqfwnlld dlaqsdpegy ekfiqqqlke gkqlcaapep qlclqtrilk
       61 pkekilfinl cqwtripapq stthpvpltv gkpedtteis daytvidvay npdvlhaaek
      121 dqvkknqliq mamkcieekf qftlshsyhi tkfrikgsiq rmkqnlmgiq tdsidlrekm
      181 rreltlgqir sstmsnpdhf pqlllpkdqv sgkavcliee issteiqvem kmpayelkiv
      241 hdhsekplki elkvelpgin svslcdlsvs etmpwdtlts qsqaselgin hltepdhtfh
      301 ldnkchtptw gasgtl
//
LOCUS       XP_047286109             385 aa            linear   PRI 20-MAR-2023
DEFINITION  glypican-5 isoform X5 [Homo sapiens].
ACCESSION   XP_047286109
VERSION     XP_047286109.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430153.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..385
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..385
                     /product="glypican-5 isoform X5"
                     /calculated_mol_wt=43501
     Region          12..>385
                     /region_name="Glypican"
                     /note="pfam01153"
                     /db_xref="CDD:426084"
     CDS             1..385
                     /gene="GPC5"
                     /coded_by="XM_047430153.1:427..1584"
                     /db_xref="GeneID:2262"
                     /db_xref="HGNC:HGNC:4453"
                     /db_xref="MIM:602446"
ORIGIN      
        1 mdaqtwpvgf rcllllalvg sarsegvqtc eevrklfqwr llgavrglpd spragpdlqv
       61 ciskkptcct rkmeeryqia arqdmqqflq tssstlkfli srnaaafqet letlikqaen
      121 ytsilfcsty rnmaleaaas vqefftdvgl ylfgadvnpe efvnrffdsl fplvynhlin
      181 pgvtdssley secirmarrd vspfgnipqr vmgqmgrsll psrtflqaln lgievinttd
      241 ylhfskecsr allkmqycph cqglaltkpc mgyclnvmrg clahmaelnp hwhayirsle
      301 elsdamhgty dighvllnfh llvndavlqa hlngqklleq vnricgrpvr tptqsprcsf
      361 dqskekhgmk tttrnseetl anrrk
//
LOCUS       XP_047286974            1094 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 128 kDa isoform X2 [Homo sapiens].
ACCESSION   XP_047286974
VERSION     XP_047286974.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431018.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1094
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1094
                     /product="centrosomal protein of 128 kDa isoform X2"
                     /calculated_mol_wt=127884
     Region          <51..>369
                     /region_name="COG5281"
                     /note="Phage-related minor tail protein [Mobilome:
                     prophages, transposons]"
                     /db_xref="CDD:227606"
     Region          252..>984
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1094
                     /gene="CEP128"
                     /gene_synonym="C14orf145; C14orf61; LEDP/132"
                     /coded_by="XM_047431018.1:448..3732"
                     /db_xref="GeneID:145508"
                     /db_xref="HGNC:HGNC:20359"
ORIGIN      
        1 maesssesdh frcrdrlspw aarsthrgtr slptvevtek vntitstlqd tsrnlrqvdq
       61 mlgryreysn gqagaiehlk esleqsidql rsqrllrnsg grsisvtsls asdldggtgs
      121 elhhfpptsp lkdygdpqgi krmrsrtgvr fvqetddmtq lhgfhqslrd lsseqirlgd
      181 dfnrelsrrs rsdaetkral eelteklnea qkqevvsdrv errlqelere mrterelver
      241 rqdqlglmsl qlqealkkqe akadehegai knklrqtete knqleqelel srrllnqseg
      301 sretllhqve elrtqltkae gdrkglqhqv sqiskqqsny qdeqgedwrf rrgverekqd
      361 lekqmsdlrv qlnfsamase leevkrcmer kdkekahlas qvenltrele ngekqqlqml
      421 drlkeiqnhf dtceaerkha dlqiseltrh aedatkqaer ylselqqsea lkeeaekrre
      481 dlklkaqesi rqwklkhkkl eralekqset vdeltgknnq ilkekdelkt qlyaalqqie
      541 nlrkelndvl tkralqeeel hskeeklrdi kshqadlele vknsldtihr leselkkqsk
      601 iqsqmkveka hleeeiaelk ksqaqdkakl lemqesikdl sairadlank laeeerakka
      661 vlkdlsdlta qaksrdeeta tiitqlkler dvhqrelkdl tsslqsvktk heqniqelmk
      721 hfkkekseae nhirtlkaes leeknmakih rgqleklksq cdrlteeltq nenenkklkl
      781 kyqclkdqle erekhisiee ehlrrmeear lqlkdqllcl eteqesilgv igkeidaack
      841 tfskdsvekl kvfssgpdih ydphrwlaes ktklqwlcee lkerenrekn lrhqlmlcrq
      901 qlrnltenke selqclfqqi erqeqlldei hrekrdllee tqrkdeemgs lqdrvialet
      961 stqvaldhle svpeklslle dfkdfrdscs ssertdgrys kyrvrrnslq hhqddtkyrt
     1021 ksfkgdrtfl egshtrgldh ssswqdhsrf lssprfsyvn sftkrtvapd sasnkedatm
     1081 ngtssqpkke eygs
//
LOCUS       XP_047293129            1355 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 94 isoform X29 [Homo sapiens].
ACCESSION   XP_047293129
VERSION     XP_047293129.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437173.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1355
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1355
                     /product="transmembrane protein 94 isoform X29"
                     /calculated_mol_wt=150892
     Region          <1219..1328
                     /region_name="Cation_ATPase_C"
                     /note="Cation transporting ATPase, C-terminus; cl02929"
                     /db_xref="CDD:445963"
     CDS             1..1355
                     /gene="TMEM94"
                     /gene_synonym="IDDCDF; KIAA0195"
                     /coded_by="XM_047437173.1:224..4291"
                     /db_xref="GeneID:9772"
                     /db_xref="HGNC:HGNC:28983"
                     /db_xref="MIM:618163"
ORIGIN      
        1 mdlkekhlge ppsalglstr kalsvlkeql eavleghlre rkkcltwkev wrssflhhsn
       61 rcscfhwpga slmllavlll lgccggqpag srgvglvnas alflllllnl vligrqdrlk
      121 rreverrlrg iidqiqdalr dgreiqwpsa mypdlhmpfa pswslhwayr dghlvnlpvs
      181 llvegdiial rpgqesfasl rgikddehiv lepgdlfppf spppsprgev ergpqspqqh
      241 rlfrvletpv idnirwcldm alsrpvtald nerftvqsvm lhyavpvvla gflitnalrf
      301 ifsapgvtsw qytllqlqvn gvlpilpllf pvlwvlatac gearvlaqms kaspssllak
      361 fsedtlssyt eavssqemlr ciwghflrvl ggtsptlshs ssllhslgsv tvlccvdkqg
      421 ilswpnpspe tvlffsgkve pphsshedlt dglstrsfch pepherdall agslnntlhl
      481 sneqergdwp geapkppepy shhkahgrsk hpsgsnvsfs rdteggeeep sktqpgmesd
      541 pyeaedfvcd yhlemlslsq dqqnpsciqf ddsnwqlhlt slkplglnvl lnlcdasvte
      601 rlcrfsdhlc nialqeshsa vlpvhvpwgl celarligft pgakelfkqe nhlalyrlps
      661 aetmketslg rlscvtkrrp plshmislfi kdtttsteqm lshgtadvvl eactdfwdga
      721 diyplsgsdr kkvldfyqra clsgycsafa ykpmncalss qlngkcielv qvpgqssift
      781 mcelpstipi kqnarrssws sdgigevlek edcmqalsgq ifmgmvssqy qarldivrli
      841 dglvnacirf vyfsledelk skvfaekmgl etgwnchisl tpngdmpgse ippsspshag
      901 slhddlnqvs rddaeglllm eeeghsdlis fqptdsdips fledsnrakl prgihqvrph
      961 lqnidnvpll vplftdctpe tmcemikimq eygevtcclg ssanlrnscl flqsdisial
     1021 dplypsrcsw etfgyatsis maqasdglsp lqlsgqlnsl pcsltfrqee tisiirlieq
     1081 arhatygirk cflfllqcql tlvviqflsc lvqlppllst tdilwlscfc ypllsisllg
     1141 kpphssimsm atgknlqsip kktqhyfllc fllkfsltis sclicfgftl qsfcdssrdr
     1201 nltncssvml psnddrapaw fedfanglls aqkltaaliv lhtvfisith vhrtkplwrk
     1261 spltnlwwav tvpvvllgqv vqtavdlqlw thrdshvhfg ledvplltwl lgclslvlvv
     1321 vtneivklhe irvrvryqkr qklqfetklg mnspf
//
LOCUS       XP_016881505             875 aa            linear   PRI 20-MAR-2023
DEFINITION  urea transporter 2 isoform X2 [Homo sapiens].
ACCESSION   XP_016881505
VERSION     XP_016881505.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017026016.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..875
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..875
                     /product="urea transporter 2 isoform X2"
                     /calculated_mol_wt=96140
     Region          119..369
                     /region_name="UT"
                     /note="Urea transporter; pfam03253"
                     /db_xref="CDD:427219"
     Region          536..831
                     /region_name="UT"
                     /note="Urea transporter; pfam03253"
                     /db_xref="CDD:427219"
     CDS             1..875
                     /gene="SLC14A2"
                     /gene_synonym="hUT-A6; HUT2; UT-A2; UT2; UTA; UTR"
                     /coded_by="XM_017026016.3:584..3211"
                     /db_xref="GeneID:8170"
                     /db_xref="HGNC:HGNC:10919"
                     /db_xref="MIM:601611"
ORIGIN      
        1 msdphsspll peplssrykl yeaeftspsw pstspdthpa lpllempeek dlrssnedsh
       61 ivkieklner skrkddgvah rdsagqrcic lskavgyltg dmkeyriwlk dkhlalqfid
      121 wvlrgtaqvm finnplsgli ifiglliqnp wwtitgglgt vvstltalal gqdrsaiasg
      181 lhgyngmlvg llmavfsekl dyywwllfpv tftamscpvl ssalnsifsk wdlpvftlpf
      241 niavtlylaa tghynlffpt tlvepvssvp nitwtememp lllqaipvgv gqvygcdnpw
      301 tggvflvalf isspliclha aigsivglla alfcaymeaa isnimsvvgv ppgtwafcla
      361 tiiflllttn npaifrlpls kvtypeanri yyltvksgee ekapsgggge hpptagpkve
      421 egseavlskh rsvfhiewss irrrskvfgk gehqerqnkd pfpyryrkpt velldldtme
      481 esseikvetn isktswirss maasgkrvsk alsyitgemk ecgeglkdks pvfqffdwvl
      541 rgtsqvmfvn nplsgiliil glfiqnpwwa isgclgtims tltalilsqd ksaiaagfhg
      601 yngvlvgllm avfsdkgdyy wwlllpviim smscpilssa lgtifskwdl pvftlpfnit
      661 vtlylaatgh ynlffpttll qpasampnit wsevqvplll raipvgigqv ygcdnpwtgg
      721 iflialfiss pliclhaaig stmgmlaalt iatpfdsiyf glcgfnstla ciaiggmfyv
      781 itwqthllai acalfaaylg aalanmlsvf glppctwpfc lsaltflllt tnnpaiyklp
      841 lskvtypean riyylsqern rrasiitkyq aydvs
//
LOCUS       XP_047294300             356 aa            linear   PRI 20-MAR-2023
DEFINITION  nesprin-4 isoform X1 [Homo sapiens].
ACCESSION   XP_047294300
VERSION     XP_047294300.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438344.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..356
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..356
                     /product="nesprin-4 isoform X1"
                     /calculated_mol_wt=38139
     Region          <321..356
                     /region_name="KASH"
                     /note="Nuclear envelope localization domain; pfam10541"
                     /db_xref="CDD:431347"
     CDS             1..356
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /coded_by="XM_047438344.1:133..1203"
                     /db_xref="GeneID:163183"
                     /db_xref="HGNC:HGNC:26703"
                     /db_xref="MIM:615535"
ORIGIN      
        1 malslplgpr lgseplnhpp gapreadivg ctvcpasgee stspeqaqtl gqdslgppeh
       61 fqggprgnep aahpprwstp ssyedpaggk hcealqvdlr gaaerveall afgeglaqrs
      121 eprawaaleq ilralgayrd sifrrlwqlq aqlvsyslvf eeantldqdl evegdsdwpg
      181 pggvwgpwap sslptstele wdpagdiggl gplgqktart lgvpcelcgq rgpqgrgqgl
      241 eeadtshsrq dmlesglghq krlarhqrhs llrkpqdkkr qasphlqdvr legnpgapdp
      301 asrqpltfll ilfllflllv gamfllpasg gpccsharip rtpylvlsyv nglppv
//
LOCUS       XP_047294773             406 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 793 isoform X1 [Homo sapiens].
ACCESSION   XP_047294773
VERSION     XP_047294773.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438817.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..406
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..406
                     /product="zinc finger protein 793 isoform X1"
                     /calculated_mol_wt=46796
     Region          8..68
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          190..221
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <225..385
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          229..249
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(234,236,238,240..241,244..245,248,262,264,268..269,
                     272..273,276,290,292,294,296..297,300..301,304)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          257..277
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          285..305
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          313..333
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(318,320,322,324..325,328..329,332,346,348,352..353,
                     356..357,360,374,376,378,380..381,384..385,388)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          341..361
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          369..389
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..406
                     /gene="ZNF793"
                     /coded_by="XM_047438817.1:593..1813"
                     /db_xref="GeneID:390927"
                     /db_xref="HGNC:HGNC:33115"
ORIGIN      
        1 mieyqipvsf kdvvvgftqe ewhrlspaqr alyrdvmlet ysnlvsvgye gtkpdvilrl
       61 eqeeapwige aacpgchcwe diwrvniqrk rrqdmllrpg aaiskktlpk eksceynkfg
      121 kisllstdlf ssiqspsnwn pcgknlnhnl dligfkrnca kkqdecyayg kllqrinhgr
      181 rpngekprgc shcekaftqn palmykpavs dsllykrkrv pptekphvcs ecgkafcyks
      241 efirhqrsht gekpygctdc gkafshkstl ikhqrihtgv rpfecffcgk aftqkshrte
      301 hqrthtgerp fvcsecgksf geksylnvhr kmhtgerpyr crecgksfsq ksclnkhwrt
      361 htgekpygcn ecgkafyqkp nlsrhqkiha rknayrnenl iivgnt
//
LOCUS       XP_047300607            1075 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and MYND domain-containing protein 1 isoform X3
            [Homo sapiens].
ACCESSION   XP_047300607
VERSION     XP_047300607.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444651.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1075
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1075
                     /product="ankyrin repeat and MYND domain-containing
                     protein 1 isoform X3"
                     /calculated_mol_wt=118913
     Region          164..>265
                     /region_name="PLN03185"
                     /note="phosphatidylinositol phosphate kinase; Provisional"
                     /db_xref="CDD:215619"
     Region          435..>510
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          460..491
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          697..782
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          718..744
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(719..720,723..725,727..728,732,735,744,746,751,
                     755..756,763..765,766..767,771,774,783,785,827,831..832,
                     836..838,840..841,845,848)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          746..783
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          785..855
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          826..>898
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          826..855
                     /region_name="Ank"
                     /note="Ankyrin repeat; pfam00023"
                     /db_xref="CDD:425426"
     Region          860..894
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..1075
                     /gene="ANKMY1"
                     /gene_synonym="ZMYND13"
                     /coded_by="XM_047444651.1:115..3342"
                     /db_xref="GeneID:51281"
                     /db_xref="HGNC:HGNC:20987"
ORIGIN      
        1 maahvgsrca srssagssnt gtrssatpga rgpgcwretl thsvtparas cssapaaral
       61 prksegatrt ngggwkttdm egahaslsle devsgagsrq rplegkgget paaeepgslk
      121 nyavfatrdv saapekeeee aegplraqdl resyiqlvqg vqewqdgcmy qgefglnmkl
      181 gygkfswptg esyhgqfyrd hchglgtymw pdgssftgtf ylshregygt mymktrlfqg
      241 lykadqrfgp gvetypdgsq dvglwfreql iklctqipsg fsllrypefs sfithspari
      301 slseeektew glqegqdpff ydykrfllnd nltlppemyv ystnsdhlpm tssfrkelda
      361 riflneippf vedgepwfii netpllvkiq kqtykfrnkp ahtswnmgai legkrsgfap
      421 cgpkeqlsme milkaeegnh ewicrilkdn fasadvadak gytvlaaaat hchndivnll
      481 ldcgadvnkc sdegltalsm cfllhypaqs fkpnvaerti pepqeppkfp vvpilsssfm
      541 dtnleslyye vnvpsqgsye lrpppaplll prvsgshegg hfqdtgqcgg sidhrssslk
      601 gdsplvkgsl ghvesgledv lgntdrgslc saetkfesnv cvcdfsiels qamlersaqs
      661 hsllkmasps pctssfdkgt mrrmalsmie rrkrwrtikl llrrgadpnl ccvpmqvlfl
      721 avkagdvdgv rlllehgart dicfppqlst ltplhiaaal pgeegvqive lllhaitdvd
      781 akasdeddty kpgkldllps slklsnepgp pqayystdta lpeeggrtal hmacereddn
      841 kvvkelltqg adpnlpltkg lgsalcvacd ltyehqrnmd sklalidrli shgadilkpv
      901 mlrqgekeav gtavdygyfr ffqdrriarc pfhtlmpaer etflarkrll eymglqlrqa
      961 vfakesqwdp twlylckrdl lcfqdgqeva apflcsaskm grrwqlhsyp qlprwrgggg
     1021 silmlsfqdg eevaapflcs askmarrwrl hsypqlprwp gsgalritgg ydgqy
//
LOCUS       XP_047300989             819 aa            linear   PRI 20-MAR-2023
DEFINITION  KAT8 regulatory NSL complex subunit 3 isoform X16 [Homo sapiens].
ACCESSION   XP_047300989
VERSION     XP_047300989.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445033.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..819
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..819
                     /product="KAT8 regulatory NSL complex subunit 3 isoform
                     X16"
                     /calculated_mol_wt=86397
     CDS             1..819
                     /gene="KANSL3"
                     /gene_synonym="KIAA1310; NSL3; Rcd1"
                     /coded_by="XM_047445033.1:81..2540"
                     /db_xref="GeneID:55683"
                     /db_xref="HGNC:HGNC:25473"
                     /db_xref="MIM:617742"
ORIGIN      
        1 mahrggerdf qtsarrmgts llfqlsvher eldlvfldhs yakpwsahpd assarptrml
       61 fvtprrqhes tmtgwtmaqn klfnkilkal qsdrlarlan egacnepvlr rvavdkcarr
      121 vrqalasvsw dtkliqwlht tlvetlslpm laayldalqt lkgkiptlid rmlvssntkt
      181 gaagaealsl llkrpwdpav gvlshnkpsk lpgsplilia ssgpsssvfp tsrrhrfwqs
      241 qlsclgkvip vathllnngs gvgvlqcleh migavrskvl eihshfphkp iiligwntga
      301 lvachvsvme yvtavvclgf plltvdgprg dvddplldmk tpvlfvigqn slqchpeame
      361 dfrekiraen slvvvggadd nlriskakkk segltqsmvd rciqdeivdf ltgvltraeg
      421 hmgseprdqd aekkkkprdv arrdlafevp ergsrpaspa aklpaspsgs edlssvsssp
      481 tsspktkvtt vtsaqkssqi gssqllkrhv qrteavlthk qaqvpissep peegekedlr
      541 vqlkrhhpss plpgsktskr pkikvslisq gdtaggpcap sqgsapeggk pitmtlgqas
      601 agakeltgll ttaksssseg gvsaspvpsv vssstapsal htlqsrlvat spgsslpgat
      661 sassllqgls fslqdisskt sglpanpspg papqatsvkl ptpmqslgai ttgtstivrt
      721 ipvattlssl gatpggkpta ihqlltnggl aklasslpgl aqisnqasgl kvpttitltl
      781 rgqpsrittl spmgsgaaps eesssqvlps ssqrlppap
//
LOCUS       XP_047302368             588 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear body protein SP140-like protein isoform X1 [Homo sapiens].
ACCESSION   XP_047302368
VERSION     XP_047302368.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446412.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..588
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..588
                     /product="nuclear body protein SP140-like protein isoform
                     X1"
                     /calculated_mol_wt=67731
     Region          50..147
                     /region_name="HSR"
                     /note="HSR domain; pfam03172"
                     /db_xref="CDD:427178"
     Region          314..390
                     /region_name="SAND"
                     /note="SAND domain; pfam01342"
                     /db_xref="CDD:426213"
     Region          422..456
                     /region_name="PHD_SP110_140"
                     /note="PHD finger found in the Sp100/Sp140 family of
                     nuclear body components; cd15626"
                     /db_xref="CDD:277096"
     Site            order(422,427..428,431..436,443)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:277096"
     Region          478..581
                     /region_name="Bromo_SP100C_like"
                     /note="Bromodomain, SP100C_like subfamily. The SP100C
                     protein is a splice variant of SP100, a major component of
                     PML-SP100 nuclear bodies (NBs), which are poorly
                     understood. It is covalently modified by SUMO-1 and may
                     play a role in processes at the chromatin...; cd05501"
                     /db_xref="CDD:99933"
     Site            order(504,509,512,551,555,560)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99933"
     CDS             1..588
                     /gene="SP140L"
                     /coded_by="XM_047446412.1:78..1844"
                     /db_xref="GeneID:93349"
                     /db_xref="HGNC:HGNC:25105"
                     /db_xref="MIM:617747"
ORIGIN      
        1 magggsdlst rglnggvsqv anemnhlpah sqslqrlfte dqdvdeglvy dtvfkhfkrh
       61 kleisnaikk tfpfleglrd relitnkmfe dsedscrnlv pvqrvvynvl selektfnls
      121 vlealfsevn mqeypdlihi yksfknaiqd klsfqesdrk ereerpdikl slkqerpace
      181 nekcsyvmcf sgevpespea rkesdqacgk mdtvdianns tlgkpkrkrr kkkghgwsrm
      241 gtrtqknnqq ndnskadgql vssekkanmn lkdlskirgr krgkpgthft qsdrapqkrv
      301 rsrasrkhkd etvdfqapll pvtcggvkgi lhkekleqgt lakciqtedg kwftpmefei
      361 kggyarsknw rlsvrcggwp lrrlmeegsl pnppriyyrn kkrilksqnn ssvdpcmrnl
      421 decevcrdgg elfccdtcsr vfhedchipp vesekmkesp gsqqccqese vlerqmcpee
      481 qlkceflllk vyccsessff akipyyyyir eacqglkepm wldkikkrln ehgypqvegf
      541 vqdmrlifqn hrasykykdf gqmglrleae fekdfkevfa iqetngns
//
LOCUS       XP_005260356             242 aa            linear   PRI 20-MAR-2023
DEFINITION  COMM domain-containing protein 7 isoform X1 [Homo sapiens].
ACCESSION   XP_005260356
VERSION     XP_005260356.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005260299.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..242
                     /product="COMM domain-containing protein 7 isoform X1"
                     /calculated_mol_wt=26799
     Region          19..175
                     /region_name="Commd7"
                     /note="COMM_Domain containing protein 7. The COMM Domain
                     is found at the C-terminus of a variety of proteins;
                     presumably all COMM_Domain containing proteins are located
                     in the nucleus and the COMM domain plays a role in
                     protein-protein interactions. Several...; cd04755"
                     /db_xref="CDD:240103"
     CDS             1..242
                     /gene="COMMD7"
                     /gene_synonym="C20orf92; dJ1085F17.3"
                     /coded_by="XM_005260299.5:77..805"
                     /db_xref="GeneID:149951"
                     /db_xref="HGNC:HGNC:16223"
                     /db_xref="MIM:616703"
ORIGIN      
        1 mgrlhctedp vpeavggdmq qlnqlgaqqf saltevlfhf ltepkeverf laqlsefatt
       61 nqislgslrs ivkslllvpn galkksltak qvqadfitlg lseekatyfs ekwkqnaptl
      121 arwaigqtlm inqlidmewk fgvtsgssel ekvgsiflql klvvkkgnqt envyigesef
      181 pleplhlfcv lcnqglvtlt tnhvfyknsh cqlwsscsta fpllkdgtrs vrkplagwsp
      241 hs
//
LOCUS       XP_047296054             691 aa            linear   PRI 20-MAR-2023
DEFINITION  short transient receptor potential channel 4-associated protein
            isoform X5 [Homo sapiens].
ACCESSION   XP_047296054
VERSION     XP_047296054.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440098.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..691
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..691
                     /product="short transient receptor potential channel
                     4-associated protein isoform X5"
                     /calculated_mol_wt=78049
     Region          399..675
                     /region_name="DUF3689"
                     /note="Protein of unknown function (DUF3689); pfam12463"
                     /db_xref="CDD:432573"
     CDS             1..691
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /coded_by="XM_047440098.1:27..2102"
                     /db_xref="GeneID:26133"
                     /db_xref="HGNC:HGNC:16181"
                     /db_xref="MIM:608430"
ORIGIN      
        1 maaapvaags gagrgrrsaa tvaawggwgg rprpgnillq lrqgqltgrg lvravqftet
       61 flterdkqsk wsgipqlllk lhttshlhsd fvecqnilke ispllsmeam afvteerklt
      121 qettypntyi fdlfggvdll veilmrptis irgqklkisd emskdclsil yntcvctegv
      181 tkrlaekndf viflftlmts kktflqtatl iedilgvkke mirldevpnl sslvsnfdqq
      241 qlanfcrila vtisemdtgn ddkhtllakn aqqkkslslg psaaeinqaa llsipgfver
      301 lcklatrkvs estgtasflq eleewytwld nalvldalmr vaneesehnq gaseenglph
      361 tsartqlpqs mkimheimyk levlyvlcvl lmgrqrnqvh rmiaefklip glnnlfdkli
      421 wrkhsasalv lhghnqncdc spditlkiqf lrllqsfsdh henkylllnn qelnelsais
      481 lkanipevea vlntdrslvc dgkrglltrl lqvmkkepae ssfrfwqara vesflrgtts
      541 yadqmfllkr gllehilyci vdsecksrdv lqsyfdllge lmkfnvdafk rfnkyintda
      601 kfqvflkqin sslvdsnmlv rcvtlsldrf enqvdmkvae vlsecrllay isqvptqmsf
      661 lfrliniihv qtltqsegdl stsqrwslvp f
//
LOCUS       XP_047297546             369 aa            linear   PRI 20-MAR-2023
DEFINITION  P2X purinoceptor 6 isoform X9 [Homo sapiens].
ACCESSION   XP_047297546
VERSION     XP_047297546.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441590.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..369
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..369
                     /product="P2X purinoceptor 6 isoform X9"
                     /calculated_mol_wt=40627
     Region          11..305
                     /region_name="P2X_receptor"
                     /note="ATP P2X receptor; cl02993"
                     /db_xref="CDD:445981"
     CDS             1..369
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /coded_by="XM_047441590.1:11..1120"
                     /db_xref="GeneID:9127"
                     /db_xref="HGNC:HGNC:8538"
                     /db_xref="MIM:608077"
ORIGIN      
        1 mcpqlagags mgspgattgw glldykteky vmtrnwrvga lqrllqfgiv vyvvgwalla
       61 kkgyqerdle pqfsiitklk gvsvtqikel gnrlwdvadf vkppqhpsvp lancwvdedc
      121 pegeggthsh gvktgqcvvf ngthrtceiw swcpvesgvv psrpllaqaq nftlfikntv
      181 tfskfnfsks naletwdpty fkhcryepqf spycpvfrig dlvakaggtf edlallggsv
      241 girvhwdcdl dtgdsgcwph ysfqlqeksy nfrtathwwe qpgveartll klygirfdil
      301 vtgqakapka tansvwrela lasqarlaec lrrssapapt ataagsqtqt pgwpcpssdt
      361 hlpthsgsl
//
LOCUS       XP_047303824            1195 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and BTB domain-containing protein 38 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047303824
VERSION     XP_047303824.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447868.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1195
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1195
                     /product="zinc finger and BTB domain-containing protein 38
                     isoform X4"
                     /calculated_mol_wt=134127
     Region          15..128
                     /region_name="BTB_POZ_ZBTB38_CIBZ"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in zinc finger and
                     BTB domain-containing protein 38 (ZBTB38); cd18223"
                     /db_xref="CDD:349532"
     Region          <332..402
                     /region_name="zf-C2H2_8"
                     /note="C2H2-type zinc ribbon; pfam15909"
                     /db_xref="CDD:435011"
     Region          344..364
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          373..392
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          462..482
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(467,469,471,473..474,477..478,481,495,497,501..502,
                     505..506,509,523,525,527,529..530,533..534)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          490..510
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          518..536
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1012..1032
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1017,1019,1021,1023..1024,1027..1028,1031,1045,1047,
                     1051..1052,1055..1056,1059,1073,1075,1077,1079..1080,
                     1083..1084,1087)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          1025..1048
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          1038..1060
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          1040..1060
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1068..1088
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1081..>1099
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          1096..1120
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..1195
                     /gene="ZBTB38"
                     /gene_synonym="CIBZ; PPP1R171; ZNF921"
                     /coded_by="XM_047447868.1:691..4278"
                     /db_xref="GeneID:253461"
                     /db_xref="HGNC:HGNC:26636"
                     /db_xref="MIM:612218"
ORIGIN      
        1 mtvmslsrdl kddfhsdtvl silneqrirg ilcdvtiive dtkfkahsnv laasslyfkn
       61 ifwshticis shvlelddlk aevfteilny iysstvvvkr qetvtdlaaa gkklgisfle
      121 dltdrnfsns pgpyvfcite kgvvkeekne krheepaitn gpritnafsi ietensnnmf
      181 spldlrasfk kvsdsmrtas lclertdvch eaepvrtlae hsyavssvae ayrsqpvreh
      241 dgsspgntgk encealaakp ktcrkpktfs ipqdsdsate nippppvsnl evnqerspqp
      301 aavltrsksp nnegdvhfsr edenqssdvp gppaaevppl vyncsccska fdsstllsah
      361 mqlhkptqep lvckycnkqf ttlnrldrhe qicmrsshmp ipggnqrfle nyptigqngg
      421 sftgpeplls enrigefsst gstlpdtdhm vkfvngqmly scvvckrsyv tlsslrrhan
      481 vhswrrtypc hycnkvfala eyrtrheiwh tgerryqcif cletfmtyyi lknhqksfha
      541 idhrlsiskk tangglkpsv ypyklyrllp mkckrapyks yrnssyenar ensqmnesap
      601 gtyvvqnphs selptlnfqd tvntltnspa ipletsacqd iptsanvqna egtkwgeeal
      661 kmdldnnfys tevsvssten avssdlragd vpvlslsnss enaasvisys gsapsvivhs
      721 sqfssvimhs naiaamtssn hrafsdpavs qslkddskpe pdkvgrfasr pksikekkkt
      781 tshtrgeipe esnyvadpgg slskttniae etskietyia kpalpgtstn snvaplcqit
      841 vkigneaivk rhilgsklfy krgrrpkyqm qeeplpqgnd pepsgdsplg lcqsecmems
      901 evfddasdqd stdkpwrpyy nykpkkksrq lkkmrkvnwr kehgnrspsh kckypaeldc
      961 avgkapqdkp feeeetkemp klqcelcdgd kavgagnqgr phrhltsrpy acelcakqfq
     1021 spstlkmhmr chtgekpyqc ktcgrcfsvq gnlqkherih lglkefvcqy cnkaftlnet
     1081 lkiherihtg ekryhcqfcf qrflylstkr nheqrhireh ngkgyacfqc pkicktaaal
     1141 gmhqkkhlfk spsqqekigd vchensnple nqhfigsedn dqkdniqtgv envvl
//
LOCUS       XP_047304105             246 aa            linear   PRI 20-MAR-2023
DEFINITION  muscleblind-like protein 1 isoform X16 [Homo sapiens].
ACCESSION   XP_047304105
VERSION     XP_047304105.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448149.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..246
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..246
                     /product="muscleblind-like protein 1 isoform X16"
                     /calculated_mol_wt=26605
     Region          57..81
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     CDS             1..246
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /coded_by="XM_047448149.1:279..1019"
                     /db_xref="GeneID:4154"
                     /db_xref="HGNC:HGNC:6923"
                     /db_xref="MIM:606516"
ORIGIN      
        1 mlgrcsrenc kylhppphlk tqleingrnn liqqknmaml aqqmqlanam mpgaplqpvv
       61 creyqrgncn rgendcrfah padstmidtn dntvtvcmdy ikgrcsrekc kyfhppahlq
      121 akikaaqyqv nqaaaaqaaa taaamgipqa vlpplpkrpa lektngatav fntgifqyqq
      181 alanmqlqqh taflppvpmv hgatpatvsa attsatsvpf aatatanqip iisaehltsh
      241 kyvtqm
//
LOCUS       XP_047304410            1706 aa            linear   PRI 20-MAR-2023
DEFINITION  protein polybromo-1 isoform X15 [Homo sapiens].
ACCESSION   XP_047304410
VERSION     XP_047304410.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448454.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1706
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1706
                     /product="protein polybromo-1 isoform X15"
                     /calculated_mol_wt=194665
     Region          61..173
                     /region_name="Bromo_polybromo_I"
                     /note="Bromodomain, polybromo repeat I. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05524"
                     /db_xref="CDD:99954"
     Site            order(93,98,101,140,144,150)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99954"
     Region          199..301
                     /region_name="Bromo_polybromo_II"
                     /note="Bromodomain, polybromo repeat II. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05517"
                     /db_xref="CDD:99948"
     Site            order(229,234,237,276,280,286)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99948"
     Region          400..501
                     /region_name="Bromo_polybromo_III"
                     /note="Bromodomain, polybromo repeat III. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05520"
                     /db_xref="CDD:99951"
     Site            order(429,434,437,476,480,486)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99951"
     Region          536..639
                     /region_name="Bromo_polybromo_IV"
                     /note="Bromodomain, polybromo repeat IV. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05518"
                     /db_xref="CDD:99949"
     Site            order(567,572,575,614,618,624)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99949"
     Region          675..779
                     /region_name="Bromo_polybromo_V"
                     /note="Bromodomain, polybromo repeat V. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05515"
                     /db_xref="CDD:99946"
     Site            order(705,710,713,752,756,762)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99946"
     Region          792..899
                     /region_name="Bromo_polybromo_VI"
                     /note="Bromodomain, polybromo repeat VI. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05526"
                     /db_xref="CDD:99956"
     Site            order(825,826,829,868,872,878)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99956"
     Region          974..1091
                     /region_name="BAH_polybromo"
                     /note="BAH, or Bromo Adjacent Homology domain, as present
                     in polybromo and yeast RSC1/2. The human polybromo protein
                     (BAF180) is a component of the SWI/SNF
                     chromatin-remodeling complex PBAF. It is thought that
                     polybromo participates in transcriptional...; cd04717"
                     /db_xref="CDD:240068"
     Region          1172..1290
                     /region_name="BAH_polybromo"
                     /note="BAH, or Bromo Adjacent Homology domain, as present
                     in polybromo and yeast RSC1/2. The human polybromo protein
                     (BAF180) is a component of the SWI/SNF
                     chromatin-remodeling complex PBAF. It is thought that
                     polybromo participates in transcriptional...; cd04717"
                     /db_xref="CDD:240068"
     Region          1397..1456
                     /region_name="HMG-box_PB1"
                     /note="high mobility group (HMG)-box found in protein
                     polybromo-1 (PB1) and similar proteins; cd21984"
                     /db_xref="CDD:438800"
     Site            order(1397..1398,1400..1404,1407..1408,1415,1427..1428,
                     1431,1434..1435,1442,1446,1449,1453,1456)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438800"
     CDS             1..1706
                     /gene="PBRM1"
                     /gene_synonym="BAF180; PB1; RCC; SMARCH1"
                     /coded_by="XM_047448454.1:444..5564"
                     /db_xref="GeneID:55193"
                     /db_xref="HGNC:HGNC:30064"
                     /db_xref="MIM:606083"
ORIGIN      
        1 mrrlafrgag calkldsmgs krrratspss svsgdfddgh hsvstpgpsr krrrlsnlpt
       61 vdpiavchel yntirdykde qgrllcelfi rapkrrnqpd yyevvsqpid lmkiqqklkm
      121 eeyddvnllt adfqllfnna ksyykpdspe ykaacklwdl ylrtrnefvq kgeaddeddd
      181 edgqdnqgtv tegsspaylk eileqlleai vvatnpsgrl iselfqklps kvqypdyyai
      241 ikepidlkti aqriqngsyk sihamakdid llaknaktyn epgsqvfkda nsikkifymk
      301 kaeiehhema ksslrmrtps nlaaarltgp shskgslgee rnptskyyrn kravqggrls
      361 aitmalqygs eseedaalaa aryeegesea esitsfmdvs npfyqlydtv rscrnnqgql
      421 iaepfyhlps kkkypdyyqq ikmpislqqi rtklknqeye tldhlecdln lmfenakryn
      481 vpnsaiykrv lklqqvmqak kkelarrddi edgdsmissa tsdtgsakrk skknirkqrm
      541 kilfnvvlea repgsgrrlc dlfmvkpskk dypdyykiil epmdlkiieh nirndkyage
      601 egmiedmklm frnarhynee gsqvyndahi lekllkekrk elgplpdddd maspklklsr
      661 ksgispkksk ymtpmqqkln evyeavknyt dkrgrrlsai flrlpsrsel pdyyltikkp
      721 mdmekirshm mankyqdids mvedfvmmfn nactynepes liykdalvlh kvlletrrdl
      781 egdedshvpn vtlliqelih nlfvsvmshq ddegrcysds laeipavdpn fpnkppltfd
      841 iirknvennr yrrldlfqeh mfevlerarr mnrtdseiye davelqqffi kirdelckng
      901 eillspalsy ttkhlhndve kerkeklpke ieedklkree ekreaeksed ssgaaglsgl
      961 hrtysqdcsf knsmyhvgdy vyvepaeanl qphivcierl wedsagekwl ygcwfyrpne
     1021 tfhlatrkfl ekevfksdyy nkvpvskilg kcvvmfvkey fklcpenfrd edvfvcesry
     1081 saktksfkki klwtmpissv rfvprdvplp vvrvasvfan adkgddeknt dnsedsraed
     1141 nfnlekeked vpvemsngep gchyfeqlhy ndmwlkvgdc vfikshglvr prvgriekvw
     1201 vrdgaayfyg pifihpeete heptkmfykk evflsnleet cpmtcilgkc avlsfkdfls
     1261 crpteipend illcesryne sdkqmkkfkg lkrfslsakv vddeiyyfrk pivpqkepsp
     1321 llekkiqlle akfaeleggd ddieemgeed sevieppslp qlqtplasel dlmpytppqs
     1381 tpksakgsak kegskrkinm sgyilfssem ravikaqhpd ysfgelsrlv gtewrnleta
     1441 kkaeyeeraa kvaeqqerer aaqqqqpsas pragtpvgal mgvvppptpm gmlnqqltpv
     1501 agmmggyppg lpplqgpvdg lvsmgsmqpl hpggppphhl ppgvpglpgi pppgvmnqgv
     1561 apmvgtpapg gspygqqvgv lgppgqqapp pypgphpagp pviqqpttpm fvapppktqr
     1621 llhseaylky ieglsaesns iskwdqtlaa rrrdvhlske qesrlpshwl kskgahttma
     1681 dalwrlrdlm lrdtlnirqa ynlenv
//
LOCUS       XP_047305092             331 aa            linear   PRI 20-MAR-2023
DEFINITION  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_047305092
VERSION     XP_047305092.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449136.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 9% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..331
                     /product="UDP-GalNAc:beta-1,
                     3-N-acetylgalactosaminyltransferase 1 isoform X1"
                     /calculated_mol_wt=39381
     Region          92..285
                     /region_name="Galactosyl_T"
                     /note="Galactosyltransferase; pfam01762"
                     /db_xref="CDD:426415"
     CDS             1..331
                     /gene="B3GALNT1"
                     /gene_synonym="B3GALANT1; B3GALT3; beta3Gal-T3; galT3;
                     Gb4Cer; GLCT3; GLOB; P1"
                     /coded_by="XM_047449136.1:749..1744"
                     /db_xref="GeneID:8706"
                     /db_xref="HGNC:HGNC:918"
                     /db_xref="MIM:603094"
ORIGIN      
        1 masalwtvlp srmslrslkw sllllsllsf fvmwylslph ynviervnwm yfyeyepiyr
       61 qdfhftlreh sncshqnpfl vilvtshpsd vkarqairvt wgekkswwgy evltffllgq
      121 eaekedkmla lsledehlly gdiirqdfld tynnltlkti mafrwvtefc pnakyvmktd
      181 tdvfintgnl vkyllnlnhs ekfftgypli dnysyrgfyq kthisyqeyp fkvfppycsg
      241 lgyimsrdlv priyemmghv kpikfedvyv giclnllkvn ihipedtnlf flyrihldvc
      301 qlrrviaahg fsskeiitfw qvmlrnttch y
//
LOCUS       XP_016863227            1090 aa            linear   PRI 20-MAR-2023
DEFINITION  limbin isoform X4 [Homo sapiens].
ACCESSION   XP_016863227
VERSION     XP_016863227.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017007738.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1090
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1090
                     /product="limbin isoform X4"
                     /calculated_mol_wt=123355
     Region          237..660
                     /region_name="EVC2_like"
                     /note="Ellis van Creveld protein 2 like protein;
                     pfam12297"
                     /db_xref="CDD:432462"
     Region          635..>794
                     /region_name="PRK12704"
                     /note="phosphodiesterase; Provisional"
                     /db_xref="CDD:237177"
     Region          <653..967
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     CDS             1..1090
                     /gene="EVC2"
                     /gene_synonym="LBN; WAD"
                     /coded_by="XM_017007738.2:47..3319"
                     /db_xref="GeneID:132884"
                     /db_xref="HGNC:HGNC:19747"
                     /db_xref="MIM:607261"
ORIGIN      
        1 mdpsgsrgrp twvlagglla valalggrgc lgassrprwr plgaqpprdp qvaprsgpgl
       61 rippgrsgag pesstqdlpc miwpkvecch fktaveaplg mkldkkmevf iplstsaass
      121 gpwahslfaf ipswpkknlf krespithrl ygdisrevqg tsengvifqk calvsgssea
      181 qtariwllvn ntkttssanl selllldsia gltiwdsvgn rtsegfqafs kkflqvgdaf
      241 avsyaatlqa gdlgngeslk lpaqltfqss srnrtqlkvl fsitaeenvt vlphhglhaa
      301 gffiafllsl vltwaalflm vryqclkgnm ltrhrvwqye skleplpfts adgvnedlsl
      361 ndqmidilss edpgsmlqal eeleiatlnr adadleacrt qiskdiiall lknltssghl
      421 spqverkmsa vfkkqfllle neiqeeydrk mvaltaecdl etrkkmenqy qremmameea
      481 eellkrager savecsnllr tlhgleqehl rkslalqqee dfakahrqla vfqrnelhsi
      541 fftqiksaif kgelkpeaak mllqnyskiq enveelmdff qaskryhlsk rfghreylvq
      601 nlqssetrvq gllstaaaql thliqkhera gyldedqmem lleraqtevf sikqkldndl
      661 kqekkklhqk litkrrrell qkhreqrreq asvgeafrtv edagqylhqk rslmeehgat
      721 leelqerldq aalddlrtlt lslfekatde lrrlqnsamt qellkrgvpw lflqqileeh
      781 gkemaaraeq legeerdrdq egvqsvrqrl kddapeavte eqaelrrweh lifmklcssv
      841 fslseeellr mrqevhgcfa qmdrslalpk irarvllqqf qtawreaefv kldqavaape
      901 lqqqskvrks rskskskgel lkkciedkih lceeqasedl vekvrgellr ervqrmeaqe
      961 ggfaqslval qfqkasrvte tlsaytalls iqdllleels asemltksac tqileshsre
     1021 lqelerkled qlvqqeaaqq qqalaswqqw vadgpgilne pgevdserqv stvlhqalsk
     1081 sqtlleqhqq
//
LOCUS       XP_011512242            1074 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 12 member 7 isoform X4 [Homo sapiens].
ACCESSION   XP_011512242
VERSION     XP_011512242.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011513940.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1074
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..1074
                     /product="solute carrier family 12 member 7 isoform X4"
                     /calculated_mol_wt=118240
     Region          31..1074
                     /region_name="AA_permease_2"
                     /note="Amino acid permease; cl45918"
                     /db_xref="CDD:459263"
     CDS             1..1074
                     /gene="SLC12A7"
                     /gene_synonym="KCC4"
                     /coded_by="XM_011513940.3:798..4022"
                     /db_xref="GeneID:10723"
                     /db_xref="HGNC:HGNC:10915"
                     /db_xref="MIM:604879"
ORIGIN      
        1 maqtslwllr eeagpgpans hvtegsgrdg nprenspfln nveveqesff egknmalfee
       61 emdsnpmvss llnklanytn lsqgvvehee deesrrreak aprmgtfigv ylpclqnilg
      121 vilflrltwi vgvagvlesf livamcctct mltaismsai atngvvpagg syymisrslg
      181 pefggavglc fylgttfaga myilgtieif ltyispgaai fqaeaaggea aamlhnmrvy
      241 gtctlvlmal vvfvgvkyvn klalvflacv vlsilaiyag viksafdppd ipvcllgnrt
      301 lsrrsfdacv kaygihnnsa tsalwglfcn gsqpsaacde yfiqnnvtei qgipgaasgv
      361 flenlwstya hagafvekkg vpsvpvaees rasalpyvlt diaasftllv giyfpsvtgi
      421 magsnrsgdl kdaqksiptg tilaivttsf iylscivlfg aciegvvlrd kfgealqgnl
      481 vigmlawpsp wvivigsffs tcgaglqslt gaprllqaia rdgivpflqv fghgkangep
      541 twallltvli cetgiliasl dsvapilsmf flmcylfvnl acavqtllrt pnwrprfkfy
      601 hwtlsflgms lclalmfics wyyalsamli agciykyiey rgaekewgdg irglslnaar
      661 yallrvehgp phtknwrpqv lvmlnldaeq avkhprllsf tsqlkagkgl tivgsvlegt
      721 yldkhmeaqr aeenirslms tektkgfcql vvssslrdgm shliqsaglg glkhntvlma
      781 wpaswkqedn pfswknfvdt vrdttaahqa llvaknvdsf pqnqerfggg hidvwwivhd
      841 ggmlmllpfl lrqhkvwrkc rmriftvaqv ddnsiqmkkd lqmflyhlri saevevvemv
      901 endisaftye rtlmmeqrsq mlkqmqlskn eqereaqlih drntashtaa aartqapptp
      961 dkvqmtwtre kliaekyrsr dtslsgfkdl fsmkpewgnl dqsnvrrmht avklngvvln
     1021 ksqdaqlvll nmpgppknrq gdenymefle vlteglnrvl lvrgggrevi tiys
//
LOCUS       XP_047274444             693 aa            linear   PRI 20-MAR-2023
DEFINITION  TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 isoform X1
            [Homo sapiens].
ACCESSION   XP_047274444
VERSION     XP_047274444.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418488.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..693
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..693
                     /product="TGF-beta-activated kinase 1 and MAP3K7-binding
                     protein 2 isoform X1"
                     /calculated_mol_wt=76363
     Region          9..50
                     /region_name="CUE_TAB2_TAB3"
                     /note="CUE domain found in the N-terminal of
                     TGF-beta-activated kinase 1 and MAP3K7-binding proteins
                     TAB2, TAB3 and similar proteins; cd14362"
                     /db_xref="CDD:270545"
     Region          <537..614
                     /region_name="Mplasa_alph_rch"
                     /note="helix-rich Mycoplasma protein; TIGR04523"
                     /db_xref="CDD:275316"
     Region          667..690
                     /region_name="ZnF_RBZ"
                     /note="Zinc finger domain; smart00547"
                     /db_xref="CDD:197784"
     Region          668..687
                     /region_name="RanBP2-type Zn finger"
                     /note="RanBP2-type Zn finger [structural motif]"
                     /db_xref="CDD:275376"
     CDS             1..693
                     /gene="TAB2"
                     /gene_synonym="CHTD2; MAP3K7IP2; TAB-2"
                     /coded_by="XM_047418488.1:176..2257"
                     /db_xref="GeneID:23118"
                     /db_xref="HGNC:HGNC:17075"
                     /db_xref="MIM:605101"
ORIGIN      
        1 maqgshqidf qvlhdlrqkf pevpevvvsr cmlqnnnnld accavlsqes trylygegdl
       61 nfsddsgisg lrnhmtslnl dlqsqniyhh gregsrmngs rtlthsisdg qlqggqsnse
      121 lfqqepqtap aqvpqgfnvf gmssssgasn saphlgfhlg skgtsslsqq tprfnpimvt
      181 lapniqtgrn tptslhihgv pppvlnspqg nsiyirpyit tpggttrqtq qhsgwvsqfn
      241 pmnpqqvyqp sqpgpwttcp asnplshtss qqpnqqghqt shvympissp ttsqpptihs
      301 sgssqssahs qyniqnistg prknqieikl eppqrnnssk lrssgprtss tsssvnsqtl
      361 nrnqptvyia asppntdelm srsqpkvyis anaatgdeqv mrnqptlfis tnsgasaasr
      421 nmsgqvsmgp afihhhppks raignnsats prvvvtqpnt kytfkitvsp nkppavspgv
      481 vsptfeltnl lnhpdhyvet eniqhltdpt lahvdriset rklsmgsdda aytqallvhq
      541 karmerlqre leiqkkkldk lksevnemen nltrrrlkrs nsisqipsle emqqlrscnr
      601 qlqididclt keidlfqarg phfnpsaihn fydnigfvgp vppkpkdqrs iiktpktqdt
      661 eddegaqwnc tactflnhpa lirceqcemp rhf
//
LOCUS       XP_006715479            8804 aa            linear   PRI 20-MAR-2023
DEFINITION  nesprin-1 isoform X17 [Homo sapiens].
ACCESSION   XP_006715479
VERSION     XP_006715479.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006715416.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8804
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..8804
                     /product="nesprin-1 isoform X17"
                     /calculated_mol_wt=1011713
     Region          24..143
                     /region_name="CH_SYNE1_rpt1"
                     /note="first calponin homology (CH) domain found in
                     synaptic nuclear envelope protein 1 and similar proteins;
                     cd21241"
                     /db_xref="CDD:409090"
     Site            order(29,33,87,89..90,93..94,96,112..120,125,127..128,
                     130..131,134..135,138)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409090"
     Region          182..290
                     /region_name="CH_SYNE1_rpt2"
                     /note="second calponin homology (CH) domain found in
                     synaptic nuclear envelope protein 1 (SYNE-1) and similar
                     proteins; cd21243"
                     /db_xref="CDD:409092"
     Site            order(187,191,241,243..244,247..248,250,259..267,274,
                     276..277,279..280,283..284,287)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409092"
     Region          <1249..1543
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          1423..2152
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          2340..3123
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          2417..2622
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            2521..2526
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          3072..3283
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            3178..3183
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          3184..3395
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            order(3285..3289,3291)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          3397..3602
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Site            3497..3502
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          3824..4042
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            3927..3932
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          4148..4344
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Region          4164..>4998
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Site            4242..4247
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          4273..4459
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Site            4353..4358
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          4970..5805
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          5971..6192
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Site            order(6078..6079,6090..6093)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          6424..>6946
                     /region_name="YhgE"
                     /note="Uncharacterized membrane protein YhgE, phage
                     infection protein (PIP) family [Function unknown];
                     COG1511"
                     /db_xref="CDD:224428"
     Region          6803..7025
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Site            6913..6918
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          6921..7132
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            7027..7032
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          7041..7239
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            7135..7140
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          7168..7356
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cl02488"
                     /db_xref="CDD:413338"
     Site            7244..7249
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          7360..7562
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            7461..7466
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          7464..7675
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            7568..7573
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          7788..8003
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            7890..7895
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          8007..8217
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            8113..8118
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          8448..8667
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            8555..8560
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          <8772..8803
                     /region_name="KASH"
                     /note="Nuclear envelope localization domain; pfam10541"
                     /db_xref="CDD:431347"
     CDS             1..8804
                     /gene="SYNE1"
                     /gene_synonym="8B; AMC3; AMCM; ARCA1; C6orf98; CPG2;
                     dJ45H2.2; EDMD4; KASH1; MYNE1; Nesp1; SCAR8"
                     /coded_by="XM_006715416.3:477..26891"
                     /db_xref="GeneID:23345"
                     /db_xref="HGNC:HGNC:17089"
                     /db_xref="MIM:608441"
ORIGIN      
        1 matsrgasrc prdianvmqr lqdeqeivqk rtftkwinsh lakrkppmvv ddlfedmkdg
       61 vkllallevl sgqklpceqg rrmkrihava nigtalkfle grksmhrgsp iklvninstd
      121 iadgrpsivl glmwtiilyf qieeltsnlp qlqslsssas svdsivsset psppskrkvt
      181 tkiqgnakka llkwvqytag kqtgievkdf gkswrsgvaf hsvihairpe lvdletvkgr
      241 snrenledaf tiaetelgip rlldpedvdv dkpdeksimt yvaqflkhyp dihnastdgq
      301 eddeilpgfp sfansvqnfk redrvifkem kvwieqferd ltraqmvesn lqdkyqsfkh
      361 frvqyemkrk qiehliqplh rdgklsldqa lvkqswdrvt srlfdwhiql dkslpaplgt
      421 igawlyraev alreeitvqq vheetantiq rkleqhkdll qntdahkraf heiyrtrsvn
      481 gipvppdqle dmaerfhfvs stselhlmkm eflelkyrll sllvlaeskl kswiikygrr
      541 esveqllqny vsfienskff eqyevtyqil kqtaemyvka dgsveeaenv mkfmnettaq
      601 wrnlsvevrs vrsmleevis nwdrygntva slqawledae kmlnqsenak kdffrnlphw
      661 iqqhtamnda gnflietcde mvsrdlkqql lllngrwrel fmevkqyaqa demdrmkkey
      721 tdcvvtlsaf ateahkklse plevsfmnvk lliqdledie qrvpvmdaqy kiitktahli
      781 tkespqeegk emfatmsklk eqltkvkecy spllyesqql lipleelekq mtsfydslgk
      841 ineiitvler eaqssalfkq khqellacqe nckktltlie kgsqsvqkfv tlsnvlkhfd
      901 qtrlqrqiad ihvafqsmvk ktgdwkkhve tnsrlmkkfe esraelekvl riaqegleek
      961 gdpeellrrh teffsqldqr vlnaflkacd eltdilpeqe qqglqeavrk lhkqwkdlqg
     1021 eapyhllhlk idveknrfla sveecrteld retklmpqeg sekiikehrv ffsdkgphhl
     1081 cekrlqliee lcvklpvrdp vrdtpgtchv tlkelraaid styrklmedp dkwkdytsrf
     1141 sefsswistn etqlkgikge aidtanhgev kraveeirng vtkrgetlsw lksrlkvlte
     1201 vsseneaqkq gdelaklsss fkalvtllse vekmlsnfgd cvqykeivkn sleelisgsk
     1261 evqeqaekil dtenlfeaqq lllhhqqktk risakkrdvq qqiaqaqqge gglpdrghee
     1321 lrklestldg lersrerqer riqvtlrkwe rfetnketvv rylfqtgssh erflsfssle
     1381 slsseleqtk efskrtesia vqaenlvkea seiplgpqnk qllqqqaksi keqvkkledt
     1441 leediktmem vktkwdhfgs nfetlsvwit ekekelnale tsssamdmqi sqikvtiqei
     1501 esklssivgl eeeaqsfaqf vttgesarik akltqirryg eelrehaqcl egtilghlsq
     1561 qqkfeenlrk iqqsvsefed klavpikics satetykvlq ehmdlcqale slssaitafs
     1621 asarkvvnrd scvqeaaalq qqyedilrra kerqtalenl lahwqrleke lssfltwler
     1681 geakasspem disadrvkve gelqliqalq nevvsqasfy skllqlkesl fsvaskddvk
     1741 mmklhleqld erwrdlpqii nkrinflqsv vaehqqfdel llsfsvwikl flselqttse
     1801 isimdhqval trhkdhaaev eskkgelqsl qghlaklgsl graedlhllq gkaedcfqlf
     1861 eeasqvverr qlalshlaef lqshaslsgi lrqlrqtvea tnsmnknesd liekdlndal
     1921 qnakalesaa vsldgilska qyhlkigsse qrtscratad qlcgeveriq nllgtkqsea
     1981 dalavlkkaf qdqkeellks iedieertdk erlkeptrqa lqqrlrvfnq ledelnsheh
     2041 elcwlkdkak qiaqkdvafa pevdreinrl evtwddtkrl ihenqgqccg lidlmreyqn
     2101 lksavskvle nassvivtrt tikdqedlkw afskhetakn kmnykqkdld nftskgkhll
     2161 selkkihssd fslvktdmes tvdkwldvse kleenmdrlr vslsiwddvl strdeiegws
     2221 nncvpqmaen isnldnhlra eellkefese vknkalrlee lhskvndlke ltknletppd
     2281 lqfieadlmq klehakeite vakgtlkdft aqstqvekfi ndittwftkv eeslmncaqn
     2341 etcealkkvk diqkelqsqq snisstqenl nslcrkyhsa eleslgramt glikkheavs
     2401 qlcsktqasl qeslekhfse smqefqewfl gakaaakess drtgdskvle aklhdlqnil
     2461 dsvsdgqskl davtqegqtl yahlskqivs siqeqitkan eefqaflkqc lkdkqalqdc
     2521 aselgsfedq hrklnlwihe meerfntenl geskqhipek knevhkvemf lgellaares
     2581 ldklsqrgql lseeghgagq egrlcsqllt shqnllrmtk eklrscqval qehealeeal
     2641 qsmwfwvkai qdrlacaest lgskdtlekr lsqiqdillm kgegevklnm aigkgeqalr
     2701 ssnkegqrvi qtqletlkev wadimsssvh aqstlesvis qwndyverkn qleqwmesvd
     2761 qkiehplqpq pglkekfvll dhlqsilsea edhtralhrl iaksrelyek tedesfkdta
     2821 qeelktqfnd imtvakekmr kveeivkdhl myldavheft dwlhsakeel hrwsdmsgds
     2881 satqkklski kelidsreig asrlsrvesl apevkqntta sgcelmhtem qalradwkqw
     2941 edsvfqtqsc lenlvsqmal seqefsgqva qleqaleqfs allktwaqql tllegkntde
     3001 eivecwhkgq eildalqkae prtedlksql nelcrfsrdl stysgkvsgl ikeynclclq
     3061 askgcqnkeq ilqqrfrkaf rdfqqwlvna kittakcfdi pqnisevsts lqkiqeflse
     3121 sengqhklnm mlskgellst lltkekakgi qakvtaaked wknfhsnlhq kesalenlki
     3181 qmkdfevsae piqdwlskte kmvhessnrl ydlpakrreq qklqsvleei hcyepqlnrl
     3241 kekaqqlweg qaasksfrhr vsqlssqyla lsnltkekvs rldrivaehn qfslgikelq
     3301 dwmtdaihml dsychptsdk svldsrtlkl eallsvkqek eiqmkmivtr gesvlqntsp
     3361 egiptiqqql qsvkdmwasl lsagircksq legalskwts yqdgvrqfsg wmdsmeanln
     3421 eserqhaelr dkttmlgkak llneevlsys slletievkg agmtehyvtq lelqdlqery
     3481 raiqerakea vtkseklvrl hqeyqrdlka fevwlgqeqe kldqysvleg dahthettlr
     3541 dlqelqvhca egqallnsvl htredvipsg ipqaedrale slrqdwqayq hrlsetrtqf
     3601 nnvvnklrlm eqkfqqvdew lktaeekvsp rtrrqsnrat keiqlhqmkk wheevtayrd
     3661 eveevgaraq eildeshvns rmgcqatqlt sryqalllqv leqikfleee iqsleesess
     3721 lssysdwygs thknfknvat kidkvdtvmm gkklktlevl lkdmekghsl lksarekger
     3781 avkyleegea erlrkeihdh meqlkeltst vrkehmtlek glhlakefsd kckaltqwia
     3841 eyqeilhvpe epkmelyekk aqlskykslq qtvlshepsv ksvrekgeal lelvqdvtlk
     3901 dkidqlqsdy qdlcsigkeh vfsleakvkd hedynselqe vekwllqmsg rlvapdllet
     3961 ssletitqql ahhkammeei agfedrlnnl qmkgdtligq cadhlqaklk qnvhahlqgt
     4021 kdsysaicst aqrmyqsleh elqkhvsrqd tlqqcqawls avqpdlepsp qpplsraeai
     4081 kqvkhfralq eqartyldll csmcdlsnas vkttakdiqq teqtieqklv qaqnltqgwe
     4141 eikhlkselw iylqdadqql qnmkrrhsel elniaqnmvs qvkdfvkklq skqasvntii
     4201 ekvnkltkke espehkeinh lndqwldlcr qsnnlclqre edlqrtrdyh dcmnvvevfl
     4261 ekfttewdnl arsdaestav hlealkklal alqerkyaie dlkdqkqkmi ehlnlddkel
     4321 vkeqtshleq rwfqledlik rkiqvsvtnl eelnvvqsrf qelmewaeeq qpniaealkq
     4381 spppdmaqnl lmdhlaicse leakqmllks likdadrvma dlglnerqvi qkalsdaqsh
     4441 vnclsdlvgq rrkylnkals ektqflmavf qatsqiqqhe rkimfrehic llpddvskqv
     4501 ktcksaqasl ktyqnevtgl waqgrelmke vteqeksevl gklqelqsvy dsvlqkcshr
     4561 lqeleknlvs rkhfkedfdk achwlkqadi vtfpeinlmn esselhtqla kyqnileqsp
     4621 eyenllltlq rtgqtilpsl nevdhsylse klnalprqfn vivalakdkf ykvqeailar
     4681 keyaslielt tqslseleaq flrmskvptd laveealslq dgcraildev aglgeavdel
     4741 nqkkegfrst gqpwqpdkml hlvtlyhrlk rqteqrvsll edttsayqeh ekmcqqlerq
     4801 lksvkeeqsk vneetlpaee klkmyhslag slqdsgivlk rvtihledla phldplayek
     4861 arhqiqswqg elklltsaig etvtecesrm vqsidfqtem srsldwlrrv kaelsgpvyl
     4921 dlnlqdiqee irkiqihqee vqsslrimna lshkekekft kakelisadl ehslaelsel
     4981 dgdiqealrt rqatlteiys qcqryyqvfq aandwledaq ellqlagngl dvesaeenlk
     5041 shmeffsted qfhsnleelh slvatldpli kptgkedleq kvaslelrsq rmsrdsgaqv
     5101 dllqrctaqw hdyqkareev ielmndtekk lsefsllkts ssheaeekls ehkalvsvvn
     5161 sfhekivale ekasqlektg ndaskatlsr smttvwqrwt rlravaqdqe kiledavdew
     5221 tgfnnkvkka temidqlqdk lpgssaekas kaelltlley hdtfvleleq qqsalgmlrq
     5281 qtlsmlqdga aptpgeeppl mqeitamqdr clnmqekvkt ngklvkqelk dremvetqin
     5341 svkcwvqetk eylgnptiei daqleelqil lteatnhrqn iekmaeeqke kylglytilp
     5401 selslqlaev aldlkirdqi qdkikeveqs katsqelsrq iqklakdltt iltklkaktd
     5461 nvvqaktdqk vlgeeldgcn sklmeldaav qkfleqngql gkplakkigk ltelhqqtir
     5521 qaenrlskln qaashleeyn emlelilkwi ekakvlahgt iawnsasqlr eqyilhqtll
     5581 eeskeidsel eamteklqyl tsvyctekms qqvaelgret eelrqmikir lqnlqdaakd
     5641 mkkfeaelkk lqaaleqaqa tltspevgrl slkeqlshrq hllsemeslk pkvqavqlcq
     5701 salripedvv aslplchaal rlqeeasrlq htaiqqcnim qeavvqyeqy eqemkhlqql
     5761 iegahreied kpvatsniqe lqaqisrhee laqkikgyqe qiaslnskck mltmkakhat
     5821 mlltvteveg laegtedldg ellptpsahp svvmmtagrc htllspvtee sgeegtnsei
     5881 ssppacrsps pvantdasvn qdiayyqals aerlqtdaak ihpstsasqe fyepglepsa
     5941 taklgdlqrs wetlknvise kqrtlyeale rqqkyqdslq sistkmeaie lklsespepg
     6001 rspesqmaeh qalmdeilml qdeinelqss laeelvsesc eadpaeqlal qstltvlaer
     6061 mstirmkasg krqlleekln dqleeqrqeq alqryrcead eldswllstk atldtalspp
     6121 kepmdmeaql mdcqnmlvei eqkvvalsel svhnenllle gkahtkdeae qlagklrrlk
     6181 gsllelqral hdkqlnmqgt aqekeesdvd ltatqspgvq ewlaqarttw tqqrqsslqq
     6241 qkeleqelae qksllrsvas rgeeiliqhs aaetsgdage kpdvlsqelg megekssaed
     6301 qmrmkweslh qefstkqkll qnvleqeqeq vlysrpnrll sgvplykgdv ptqdksavts
     6361 lldglnqafe evssqsggak rqsihleqkl ydgvsatstw lddveerlfv atallpeete
     6421 tclfnqeila kdikemseem dknknlfsqa fpengdnrdv iedtlgcllg rlslldsvvn
     6481 qrchqmkerl qqilnfqndl kvlftsladn kyiilqklan vfeqpvaeqi eaiqqaedgl
     6541 kefdagiiel krrgdklqve qpsmqelskl qdmydelmmi igsrrsglnq nltlksqyer
     6601 alqdladlle tgqekmagdq kiivsskeei qqlldkhkey fqgleshmil tetlfrkiis
     6661 favqketqfh telmaqasav lkrahkrgve leyiletwsh ldedqqelsr qlevvessip
     6721 svglveened rlidritlyq hlksslneyq pklyqvlddg krllisiscs dlesqlnqlg
     6781 ecwlsntnkm skelhrleti lkhwtryqse sadlihwlqs akdrlefwtq qsvtvpqele
     6841 mvrdhlnafl efskevdaqs slkssvlstg nqllrlkkvd tatlrselsr idsqwtdllt
     6901 nipavqeklh qlqmdklpsr haisevmswi slmenviqkd edniknsigy kaiheylqky
     6961 kgfkidinck qltvdfvnqs vlqissqdve skrsdktdfa eqlgamnksw qilqglvtek
     7021 iqlleglles wseyennvqc lktwfetqek rlkqqhrigd qasvqnalkd cqdledlika
     7081 kekevekieq nglaliqnkk edvssivmst lrelgqtwan ldhmvgqlki llksvldqws
     7141 shkvafdkin sylmearysl srfrlltgsl eavqvqvdnl qnlqddlekq erslqkfgsi
     7201 tnqllkechp pvtetltntl kevnmrwnnl leeiaeqlqs skallqlwqr ykdyskqcas
     7261 tvqqqedrtn ellkaatnkd iaddevatwi qdcndllkgl gtvkdslffl helgeqlkqq
     7321 vdasaasaiq sdqlslsqhl caleqalckq qtslqagvld yetfakslea leawiveaee
     7381 ilqgqdpshs sdlstiqerm eelkgqmlkf ssmapdldrl nelgyrlpln dkeikrmqnl
     7441 nrhwslissq tterfsklqs fllqhqtfle kcetwmeflv qteqklavei sgnyqhlleq
     7501 qrahelfqae mfsrqqilhs iiidgqrlle qgqvddrdef nlkltllsnq wqgvirraqq
     7561 rrgiidsqir qwqryremae klrkwlvevs ylpmsglgsv piplqqartl fdevqfkekv
     7621 flrqqgsyil tveagkqlll sadsgaeaal qaelaeiqek wksasmrlee qkkklafllk
     7681 dwekcekgia dsleklrtfk kklsqslpdh heelhaeqmr ckelenavgs wtddltqlsl
     7741 lkdtlsayis addisilner vellqrqwee lchqlslrrq qigerlnewa vfseknkelc
     7801 ewltqmeskv sqngdiliee mieklkkdyq eeiaiaqenk iqlqqmgerl akasheskas
     7861 eieyklgkvn drwqhlldli aarvkklket lvavqqldkn msslrtwlah ieselakpiv
     7921 ydscnseeiq rklneqqelq rdiekhstgv asvlnlcevl lhdcdacatd aecdsiqqat
     7981 rnldrrwrni camsmerrlk ieetwrlwqk flddysrfed wlkssertaa fpsssgviyt
     8041 vakeelkkfe afqrqvhecl tqlelinkqy rrlarenrtd sacslkqmvh egnqrwdnlq
     8101 krvtsilrrl khfigqreef etardsilvw ltemdlqltn iehfsecdvq akikqlkafq
     8161 qeislnhnki eqiiaqgeql ieksepldaa iieeeldelr rycqevfgrv eryhkklirl
     8221 plpddehdls dreleledsa alsdlhwhdr sadsllspqp ssnlslslaq plrsersgrd
     8281 tpasvdsipl ewdhdydlsr dlesamsral psedeegqdd kdfylrgavg lsgdhsales
     8341 qirqlgkald dsrfqiqqte niirsktptg peldtsykgy mkllgecsss idsvkrlehk
     8401 lkeeeeslpg fvnlhstetq tagvidrwel lqaqalskel rmkqnlqkwq qfnsdlnsiw
     8461 awlgdteeel eqlqrlelst diqtielqik klkelqkavd hrkaiilsin lcspeftqad
     8521 skesrdlqdr lsqmngrwdr vcslleewrg llqdalmqcq gfhemshgll lmlenidrrk
     8581 neivpidsnl daeilqdhhk qlmqikhell esqlrvaslq dmscqllvna egtdcleake
     8641 kvhvignrlk lllkevsrhi keleklldvs ssqqdlssws sadeldtsgs vsptsgrstp
     8701 nrqktprgkc slsqpgpsvs sphsrstkgg sdsslsepgp grsgrgflfr vlraalplql
     8761 llllliglac lvpmseedys calsnnfars fhpmlrytng pppl
//
LOCUS       XP_047274966             924 aa            linear   PRI 20-MAR-2023
DEFINITION  exocyst complex component 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047274966
VERSION     XP_047274966.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419010.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..924
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..924
                     /product="exocyst complex component 2 isoform X1"
                     /calculated_mol_wt=103936
     Region          8..89
                     /region_name="IPT_PCSR"
                     /note="IPT domain of Plexins and Cell Surface Receptors
                     (PCSR) and related proteins . This subgroup contains IPT
                     domains of plexins, receptors, like the
                     plasminogen-related growth factor receptors, the
                     hepatocyte growth factor-scatter factors, and the...;
                     cd00603"
                     /db_xref="CDD:238337"
     Region          132..914
                     /region_name="Sec5"
                     /note="Exocyst complex component Sec5; pfam15469"
                     /db_xref="CDD:434738"
     CDS             1..924
                     /gene="EXOC2"
                     /gene_synonym="NEDFACH; SEC5; SEC5L1; Sec5p"
                     /coded_by="XM_047419010.1:331..3105"
                     /db_xref="GeneID:55770"
                     /db_xref="HGNC:HGNC:24968"
                     /db_xref="MIM:615329"
ORIGIN      
        1 msrsrqpplv tgispnegip wtkvtirgen lgtgptdlig lticghncll taewmsaski
       61 vcrvgqaknd kgdiivttks ggrgtstvsf kllkpekigi ldqsavwvde mnyydmrtdr
      121 nkgipplslr panplgieie kskfsqkdle mlfhgmsadf tsenfsaawy lienhsntsf
      181 eqlkmavtnl krqankkseg slayvkggls tffeaqdals aihqkleadg tekvegsmtq
      241 klenvlnras ntadtlfqev lgrkdkadst rnalnvlqrf kflfnlplni erniqkgdyd
      301 vvindyekak slfgktevqv fkkyyaevet riealrelll dklletpstl hdqkryiryl
      361 sdlhasgdpa wqcigaqhkw ilqlmhscke gyvkdlkgnp glhspmldld ndtrpsvlgh
      421 lsqtaslkrg ssfqsgrddt wryktphrva fvekltklvl sqlpnfwklw isyvngslfs
      481 etaeksgqie rsknvrqrqn dfkkmiqevm hslvkltrga llplsirdge akqyggwevk
      541 celsgqwlah aiqtvrlthe sltaleipnd llqtiqdlil dlrvrcvmat lqhtaeeikr
      601 laekedwivd negltslpcq feqcivcslq slkgvleckp geasvfqqpk tqeevcqlsi
      661 nimqvfiycl eqlstkpdad idtthlsvdv sspdlfgsih edfsltseqr llivlsnccy
      721 lerhtflnia ehfekhnfqg iekitqvsma slkeldqrlf enyielkadp ivgslepgiy
      781 agyfdwkdcl pptgvrnylk ealvniiavh aevftiskel vprvlskvie avseelsrlm
      841 qcvssfskng alqarleica lrdtvavylt peskssfkqa lealpqlssg adkklleell
      901 nkfkssmhlq ltcfqaasst mmkt
//
LOCUS       XP_011513226             957 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-1(XXI) chain isoform X1 [Homo sapiens].
ACCESSION   XP_011513226
VERSION     XP_011513226.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514924.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..957
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..957
                     /product="collagen alpha-1(XXI) chain isoform X1"
                     /calculated_mol_wt=99238
     Region          34..254
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Site            order(43,114,144)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238119"
     Region          230..412
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cl22861"
                     /db_xref="CDD:451433"
     Region          <447..>677
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <598..>933
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     CDS             1..957
                     /gene="COL21A1"
                     /gene_synonym="COLA1L; FP633"
                     /coded_by="XM_011514924.3:197..3070"
                     /db_xref="GeneID:81578"
                     /db_xref="HGNC:HGNC:17025"
                     /db_xref="MIM:610002"
ORIGIN      
        1 mahyitflcm vlvlllqnsv laedgevrss crtaptdlvf ildgsysvgp enfeivkkwl
       61 vnitknfdig pkfiqvgvvq ysdypvleip lgsydsgehl taavesilyl ggntktgkai
      121 qfaldylfak ssrfltkiav vltdgksqdd vkdaaqaard skitlfaigv gsetedaelr
      181 aiankpssty vfyvedyiai skirevmkqk lceesvcptr ipvaarderg fdillgldvn
      241 kkvkkriqls pkkikgyevt skvdlselts nvfpeglpps yvfvstqrfk vkkiwdlwri
      301 ltidgrpqia vtlngvdkil lftttsving sqvvtfanpq vktlfdegwh qirllvteqd
      361 vtlyiddqqi enkplhpvlg ilingqtqig kysgkeetvq fdvqklriyc dpeqnnreta
      421 ceipgfngec lngpsdvgst papcicppgk pglqgpkgdp glpgnpgypg qpgqdgkpgy
      481 qgiagtpgvp gspgiqgarg lpgykgepgr dgdkgdrglp gfpglhgmpg skgemgakgd
      541 kgspgfygkk gakgekgnag fpglpgpage pgrhgkdglm gspgfkgeag spgapgqdgt
      601 rgepgipgfp gnrglmgqkg eigppgqqgk kgapgmpglm gsngspgqpg tpgskgskge
      661 pgiqgmpgas glkgepgatg spgepgymgl pgiqgkkgdk gnqgekgiqg qkgengrqgi
      721 pgqqgiqghh gakgergekg epgvrgaigs kgesgvdglm gpagpkgqpg dpgpqgppgl
      781 dgkpgrefse qfirqvctdv iraqlpvllq sgrirncdhc lsqhgspgip gppgpigpeg
      841 prglpglpgr dgvpglvgvp grpgvrglkg lpgrngekgs qgfgypgeqg ppgppgpegp
      901 pgiskegppg dpglpgkdgd hgkpgiqgqp gppgicdpsl cfsviarrdp frkgpny
//
LOCUS       XP_011534509             459 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 22 member 16 isoform X4 [Homo sapiens].
ACCESSION   XP_011534509
VERSION     XP_011534509.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011536207.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..459
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..459
                     /product="solute carrier family 22 member 16 isoform X4"
                     /calculated_mol_wt=50401
     Region          61..407
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     Site            order(101..102,104..106,109,125,128..129,132,248,251..252,
                     255..257,260,280,284,335..336,340,344,360,363..364,
                     367..368,371)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:349949"
     CDS             1..459
                     /gene="SLC22A16"
                     /gene_synonym="CT2; dJ261K5.1; FLIPT2; HEL-S-18; OAT6;
                     OCT6; OKB1"
                     /coded_by="XM_011536207.4:135..1514"
                     /db_xref="GeneID:85413"
                     /db_xref="HGNC:HGNC:20302"
                     /db_xref="MIM:608276"
ORIGIN      
        1 mvsrgaglar sapvagqegp dsressisyv psrtslvvft twllcswesp limsagpqam
       61 lgrrvvlwat sssmflfgia aafavdyytf maarfflamv asgylvvgfv yvmefigmks
      121 rtwasvhlhs ffavgtllva ltgylvrtww lyqmilstvt vpfilccwvl petpfwllse
      181 gryeeaqkiv dimakwnras scklsellsl dlqgpvsnsp tevqkhnlsy lfynwsitkr
      241 tltvwliwft gslgfysfsl nsvnlggney lnlfllgvve ipaytfvcia mdkvgrrtvl
      301 ayslfcsala cgvvmvipqk hyilgvvtam vgkfaigaaf gliylytael yptivrslav
      361 gsgsmvcrla silapfsvdl ssiwifipql fvgtmallsg vltlklpetl gkrlattwee
      421 aaklesenes kssklllttn nsglekteai tprdsglge
//
LOCUS       XP_047275526             364 aa            linear   PRI 20-MAR-2023
DEFINITION  A-kinase anchoring protein 7 isoform X4 [Homo sapiens].
ACCESSION   XP_047275526
VERSION     XP_047275526.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419570.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..364
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..364
                     /product="A-kinase anchoring protein 7 isoform X4"
                     /calculated_mol_wt=40114
     Region          175..>319
                     /region_name="AKAP7_NLS"
                     /note="AKAP7 2'5' RNA ligase-like domain; pfam10469"
                     /db_xref="CDD:402204"
     CDS             1..364
                     /gene="AKAP7"
                     /gene_synonym="AKAP15; AKAP18"
                     /coded_by="XM_047419570.1:28..1122"
                     /db_xref="GeneID:9465"
                     /db_xref="HGNC:HGNC:377"
                     /db_xref="MIM:604693"
ORIGIN      
        1 mrvlrllrlp ppllplprgl rlgklrasag lasaarapaa crwtprrpsa ppsgpeprpg
       61 lrlglasspg trpataaaas pdappacaat merpeaggin snecenvsrk kkmseefean
      121 tmdslvdmpf atvdiqddcg itdepqinlk rsqenewvks dqvkkrkkkr kdyqpnyfls
      181 ipitnkeiik gikilqnaii qqderlakam vsdgsfhitl lvmqllnede vnigidalle
      241 lkpfieellq gkhltlpfqg igtfgnqvgf vklaegdhvn slleiaetan rtfqekgilv
      301 gesrsfkphl tfmklskspw lrknprgflm qiqtsdglls ytrvlemgmq inirsllsmt
      361 lccs
//
LOCUS       XP_016867256            4433 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-binding cassette sub-family A member 13 isoform X15 [Homo
            sapiens].
ACCESSION   XP_016867256
VERSION     XP_016867256.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017011767.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4433
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..4433
                     /product="ATP-binding cassette sub-family A member 13
                     isoform X15"
                     /calculated_mol_wt=505897
     Region          7..>82
                     /region_name="rim_protein"
                     /note="retinal-specific rim ABC transporter; TIGR01257"
                     /db_xref="CDD:130324"
     Region          3068..>4431
                     /region_name="rim_protein"
                     /note="retinal-specific rim ABC transporter; TIGR01257"
                     /db_xref="CDD:130324"
     CDS             1..4433
                     /gene="ABCA13"
                     /coded_by="XM_017011767.2:27..13328"
                     /db_xref="GeneID:154664"
                     /db_xref="HGNC:HGNC:14638"
                     /db_xref="MIM:607807"
ORIGIN      
        1 mghagcqfka llwknwlcrl rnpvlflaef fwpcilfvil tvlrfqeppr yrdicylqpr
       61 dlpscgvipf vqsllcntgs rcrnfsyegs mehhfrlsrf qtaadpkkvn nlaflkeiqd
      121 laeeihgmmd kaknlkrlwv ersntpdssy gssfftmdln kteevilkle slhqqphiwd
      181 fllllprlht shdhvedgmd vavnllqtil nslisledld wlplnqtfsq vselvlnvti
      241 stltflqqhg vavtepvyhl smqnivwdpq kvqydlksqf gfddlhteqi lnssaelkei
      301 ptdtslekmv csvlsstsed eaekwghvgg chpkwseakn ylvhavswlr vyqqvfvqwq
      361 qgsllqktlt gmghslealr nqfeeeskpw kvvealhtal lllndslsad gpkdnhtfpk
      421 ilqhlwklqs llqnlpqwpa lkrflqldga lrnaiaqnlh fvqevlicle tsandfkwfe
      481 lnqlklekdv ffwelkqmla knavcpngrf sekevflppg nssiwgglqg llcycnsset
      541 svlnkllgsv edadrilqev itwhknmsvl ipeeyldwqe lemqlseasl sctrlflllg
      601 adpspendvf ssdckhqlvs tvifhtlekt qffleqayyw kafkkfirkt cevaqyvnmq
      661 esfqnrllaf peespcfeen mdwkmisdny fqflnnllks ptasisraln ftkhllmmek
      721 klhtledeqm nfllsfveff eklllpnlfd ssivpsfhsl psltedilni sslwtnhlks
      781 lkrdpsatda qkllefgnev iwkmqtlgsh wirkepknll rfielilfei npkllelway
      841 giskgkrakl enfftllnfs vpeneilsts fnfsqlfhsd wpkspamnid fvrlseaiit
      901 slhefgfleq eqisealntv yairnasdlf salsepqkqe vdkilthihl nvfqdkdsal
      961 llqiyssfyr yiyellniqs rgssltfltq iskhildiik qfnfqniska faflfktaev
     1021 lggisnvsyc qqllsifnfl elqaqsfmst egqeleviht tltglkqlli idedfrislf
     1081 qymsqffnss vedlldnkcl isdnkhissv nystseessf vfplaqifsn lsanvsvfnk
     1141 fmsihctvsw lqmwteiwet isqlfkfdmn vftslhhgft qlldeleddv kvskscqgil
     1201 pthnvarlil nlfknvtqan dfhnwedfld lrdflvalgn alvsvkklnl eqvekslftm
     1261 eaalhqlktf pfnestsref lnsllevfie fsstseyivr nldsindfls nnltnygekf
     1321 eniitelrea ivflrnvshd rdlfscadif qnvteciled gflyvntsqr mlrildtlns
     1381 tfssentiss lkgcivwldv inhlyllsns sfsqghlqni lgnfrdienk mnsilkivtw
     1441 vlnikkplcs sngshincvn iylkdvtdfl nivlttvfek ekkpkfeill allndstkqv
     1501 rmsinnlttd fdfasqsnwr yftelilrpi emsdeipnqf qniwlhlitl gkefqklvkg
     1561 iyfnilenns ssktenllni fatspkekdv nsvgnsiyhl asylafslsh dlqnspkiii
     1621 speimkatgl giqlirdvfn slmpvvhhts pqnagymqal kkvtsvmrtl kkadidllvd
     1681 qleqvsvnlm dffknissvg tgnlvvnllv glmekfadss hswnvnhllq lsrlfpkdvv
     1741 davidvyyvl phavrllqgv pgkniteglk dvysftllhg itisnitked faivikilld
     1801 tielvsdkpd iisealacfp vvwcwnhtns gfrqnskidp cnvhglmsss fygkvasild
     1861 hfhlspqged spcsnessrm eitrkvvcii helvdwnsil lelsevfhvn islvktvqkf
     1921 whkilpfvpp sinqtrdsis elcpsgsikq valqiieklk nvnftkvtsg enildklssl
     1981 nkilninedt etsvqniiss nlertvqlis edwsleksth nllslfmmlq nanvtgssle
     2041 alssfiekse tpynfeelwp kfqqimkdlt qdfrirhlls emnkgiksin smalqkitlq
     2101 fahfleilds pslktleiie dfllvtknwl qeyanedysr mietlfipvt nesstedial
     2161 lakaiatfwg slknisragn fdvaflthll nqeqltnfsv vqllfenili nlinnlagns
     2221 qeaawnlndt dlqimnfinl ilnhmqsets rktvlslrsi vdfteqflkt ffslflkeds
     2281 enkislllky fhkdviaems fvpkdkilei lkldqfltlm iqdrlmnifs slketiyhlm
     2341 kssfildnge fyfdthqglk fmqdlfnall retsmknkte nnidfftvvs qlffhvnkse
     2401 dlfklnqdlg salhlvrecs temarlldti lhspnkdfya lyptlqevil anltdllffi
     2461 nnsfplrnra tleitkrlvg aisraseesh vlkpllemsg tlvmllndsa dlrdlatsmd
     2521 sivkllklvk kvsgkmstvf kthfisntkd svkffdtlys imqqsvqnlv keiatlkkid
     2581 hftfekindl lvpfldlafe migvepyiss nsdifsmsps ilsymnqskd fsdileeiae
     2641 fltsvkmnle dmrslavafn netqtfsmds vnlreeilgc lvpinnitnq mdflypnpis
     2701 thsgpqdikw eiihevipfl dkilsqnste igsflkmvic ltlealwknl kkdnwnvsnv
     2761 lmtftqhpnn llktietvle assgiksdye gdlnkslyfd tplsqnithh qlekaihnvl
     2821 srialwrkgl lfnnsewits trtlfqplfe ifikattgkn vtsekeertk kemidfpysf
     2881 kpffclekyl gglfvltkyw qqipltdqsv veicevfqqt vkpseameml qkvkmmvvrv
     2941 ltivaenpsw tkdilcatls ckqngirhli lsaiqgvtla qdhfqeieki wsspnqlnce
     3001 slsknlsstl esfksslena tgqdctsqpr letvqqhlym laksleetws sgnpimtfls
     3061 nftvtedvki kdlmknitkl teelrssiqi snetihsile anishskvlf saltvalsgk
     3121 cdqeilhlll tfpkgekswi aaeelcslpg skvyslivll srnldvrafi yktlmpsean
     3181 gllnslldiv sslsallaka qhvfeylpef lhtfkitall etldfqqvsq nvqarssafg
     3241 sfqfvmkmvc kdqasflsds nmfinlprvk elleddkekf nipedstpfc lklyqeilql
     3301 pngalvwtfl kpilhgkily tpntpeinkv iqkanytfyi vdklktlset llemsslfqr
     3361 sgsgqmfnql qealrnkfvr nfvenqlhid vdklteklqt ygglldemfn hagagrfrfl
     3421 gsilvnlssc valnrfqalq svdiletkah ellqqnsfla siifsnslfd knfrsesvkl
     3481 pphvsytirt nvlysvrtdv vknpswkfhp qnlpadgfky nyvfaplqdm ieraiilvqt
     3541 gqealepaaq tqaapypcht sdlflnnvgf ffplimmltw mvsvasmvrk lvyeqeiqie
     3601 eymrmmgvhp vihflawfle nmavltissa tlaivlktsg ifahsntfiv flflldfgms
     3661 vvmlsyllsa ffsqantaal ctslvymisf lpyivllvlh nqlsfvnqtf lcllsttafg
     3721 qgvffitfle gqetgiqwnn myqaleqggm tfgwvcwmil fdsslyflcg wylsnlipgt
     3781 fglrkpwyfp ftasywksvg flvekrqyfl ssslfffnen fdnkgsslqn regelegsap
     3841 gvtlvsvtke yeghkavvqd lsltfyrdqi tallgtngag kttiismltg lhpptsgtii
     3901 ingknlqtdl srvrmelgvc pqqdilldnl tvrehlllfa sikapqwtkk elhqqvnqtl
     3961 qdvdltqhqh kqtralsggl krklslgiaf mgmsrtvvld eptsgvdpcs rhslwdillk
     4021 yregrtiift thhldeaeal sdrvavlqhg rlrccgppfc lkeaygqglr ltltrqpsvl
     4081 eahdlkdmac vtslikiyip qaflkdssgs eltytipkdt dkaclkglfq aldenlhqlh
     4141 ltgygisdtt leevflmllq dsnkkshial gteselqnhr ptghlsgycg slarpatvqg
     4201 vqllraqvaa ilarrlrrtl ragkstladl llpvlfvala mglfmvrpla teypplrltp
     4261 ghyqraetyf fsssggdnld ltrvllrkfr dqdlpcadln prqknsscwr tdpfshpefq
     4321 dscgclkcpn rsasapyltn hlghtllnls gfnmeeylla psekprlggw sfglkipsea
     4381 ggangniskp ptlakvwynq kgfhslpsyl nhlnnlilwq hlpptvdwrq ydy
//
LOCUS       XP_005250242             161 aa            linear   PRI 20-MAR-2023
DEFINITION  homeobox protein DLX-5 isoform X1 [Homo sapiens].
ACCESSION   XP_005250242
VERSION     XP_005250242.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005250185.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..161
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..161
                     /product="homeobox protein DLX-5 isoform X1"
                     /calculated_mol_wt=17567
     Site            order(10..14,16,33,39,52,54..55,58..59,61..63,65..66)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          12..65
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     Site            order(12,15,55,58..59,62)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     CDS             1..161
                     /gene="DLX5"
                     /gene_synonym="SHFM1; SHFM1D"
                     /coded_by="XM_005250185.4:134..619"
                     /db_xref="GeneID:1749"
                     /db_xref="HGNC:HGNC:2918"
                     /db_xref="MIM:600028"
ORIGIN      
        1 mvngkpkkvr kprtiyssfq laalqrrfqk tqylalpera elaaslgltq tqvkiwfqnk
       61 rskikkimkn gemppehsps ssdpmacnsp qspavwepqg ssrslshhph ahpptsnqsp
      121 assylensas wytsaassin shlpppgslq hplalasgtl y
//
LOCUS       XP_016868919             757 aa            linear   PRI 20-MAR-2023
DEFINITION  aspartyl/asparaginyl beta-hydroxylase isoform X5 [Homo sapiens].
ACCESSION   XP_016868919
VERSION     XP_016868919.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017013430.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..757
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..757
                     /product="aspartyl/asparaginyl beta-hydroxylase isoform
                     X5"
                     /calculated_mol_wt=85426
     Region          43..123
                     /region_name="Asp-B-Hydro_N"
                     /note="Aspartyl beta-hydroxylase N-terminal region;
                     pfam05279"
                     /db_xref="CDD:428406"
     Region          <136..286
                     /region_name="PTZ00341"
                     /note="Ring-infected erythrocyte surface antigen;
                     Provisional"
                     /db_xref="CDD:173534"
     Region          313..341
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          314..427
                     /region_name="tol_pal_ybgF"
                     /note="tol-pal system protein YbgF; TIGR02795"
                     /db_xref="CDD:188247"
     Region          <337..525
                     /region_name="YfgC"
                     /note="Putative Zn-dependent protease, contains TPR
                     repeats [General function prediction only]; COG4783"
                     /db_xref="CDD:227122"
     Region          346..380
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(430..431,434..435,437,461,464..465,468..469,
                     471..472,498,501..502,505..506,509)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          430..454
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          459..489
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          497..520
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          563..744
                     /region_name="Asp_Arg_Hydrox"
                     /note="Aspartyl/Asparaginyl beta-hydroxylase; pfam05118"
                     /db_xref="CDD:428316"
     CDS             1..757
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /coded_by="XM_017013430.2:222..2495"
                     /db_xref="GeneID:444"
                     /db_xref="HGNC:HGNC:757"
                     /db_xref="MIM:600582"
ORIGIN      
        1 maqrknakss gnssssgsgs gstsagsssp garretkhgg hkngrkggls gtsfftwfmv
       61 iallgvwtsv avvwfdlvdy eevlakakdf rynlsevlqg klgiydadgd gdfdvddakv
      121 llglkersts epavppeeae phtepeeqvp veaepqnied eakeqiqsll hemvhaehet
      181 ehsyhveetv sqdcnqdmee mmseqenpds sepvvederl hhdtddvtyq vyeeqavyep
      241 lenegieite vtappednpv edsqviveev sifpveeqqe vppetnrktd dpeqkakvkk
      301 kkpkllnkfd ktikaeldaa eklrkrgkie eavnafkelv rkypqsprar ygkaqceddl
      361 aekrrsnevl rgaietyqev aslpdvpadl lklslkrrsd rqqflghmrg slltlqrlvq
      421 lfpndtslkn dlgvgyllig dndnakkvye evlsvtpndg fakvhygfil kaqnkiaesi
      481 pylkegiesg dpgtddgrfy fhlgdamqrv gnkeaykwye lghkrghfas vwqrslynvn
      541 glkaqpwwtp ketgytelvk slernwklir deglavmdka kglflpeden lrekgdwsqf
      601 tlwqqgrrne nackgapktc tllekfpett gcrrgqikys imhpgthvwp htgptncrlr
      661 mhlglvipke gckircanet kngdfcpyvp gseikhshnt gggaysletw eegkvlifdd
      721 sfehevwqda ssfrlifivd vwhpeltpqq rrslpai
//
LOCUS       XP_047278071             657 aa            linear   PRI 20-MAR-2023
DEFINITION  cationic amino acid transporter 2 isoform X2 [Homo sapiens].
ACCESSION   XP_047278071
VERSION     XP_047278071.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422115.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..657
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..657
                     /product="cationic amino acid transporter 2 isoform X2"
                     /calculated_mol_wt=71580
     Region          5..607
                     /region_name="2A0303"
                     /note="cationic amino acid transport permease; TIGR00906"
                     /db_xref="CDD:273330"
     CDS             1..657
                     /gene="SLC7A2"
                     /gene_synonym="ATRC2; CAT2; HCAT2"
                     /coded_by="XM_047422115.1:216..2189"
                     /db_xref="GeneID:6542"
                     /db_xref="HGNC:HGNC:11060"
                     /db_xref="MIM:601872"
ORIGIN      
        1 mipcraaltf arclirrkiv tldsledtkl crclstmdli algvgstlga gvyvlageva
       61 kadsgpsivv sfliaalasv maglcyaefg arvpktgsay lytyvtvgel wafitgwnli
      121 lsyvigtssv arawsgtfde llskqigqfl rtyfrmnytg laeypdffav clilllagll
      181 sfgvkesawv nkvftavnil vllfvmvagf vkgnvanwki seeflknisa sareppseng
      241 tsiygaggfm pygftgtlag aatcfyafvg fdciattgee vrnpqkaipi givtsllvcf
      301 mayfgvsaal tlmmpyylld eksplpvafe yvgwgpakyv vaagslcals tsllgsmfpl
      361 prilfamard gllfrflarv skrqspvaat ltagvisalm aflfdlkalv dmmsigtlma
      421 yslvaacvli lryqpglsyd qpkcspekdg lgssprvtsk sesqvtmlqr qgfsmrtlfc
      481 psllptqqsa slvsflvgfl aflvlglsvl ttygvhaitr leawslalla lflvlfvaiv
      541 ltiwrqpqnq qkvafmvpfl pflpafsilv niylmvqlsa dtwvrfsiwm aigfliyfsy
      601 girhsleghl rdenneeday pdnvhaaaee ksaiqandhh prnlsspfif hektsef
//
LOCUS       XP_005251885             606 aa            linear   PRI 20-MAR-2023
DEFINITION  formin-binding protein 1 isoform X22 [Homo sapiens].
ACCESSION   XP_005251885
VERSION     XP_005251885.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005251828.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..606
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..606
                     /product="formin-binding protein 1 isoform X22"
                     /calculated_mol_wt=69944
     Region          5..257
                     /region_name="F-BAR_FBP17"
                     /note="The F-BAR (FES-CIP4 Homology and
                     Bin/Amphiphysin/Rvs) domain of Formin Binding Protein 17;
                     cd07676"
                     /db_xref="CDD:153360"
     Site            order(10,13,20,23..24,27,30..31,34..35,38,42,45,49,80,83,
                     187,191,217,221,224,227..228,231,235,238,242,246,249..250,
                     253)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153360"
     Site            order(33,44,51..52,56,110,113..114,132,139,143,146,150)
                     /site_type="other"
                     /note="putative membrane interaction site"
                     /db_xref="CDD:153360"
     Region          392..468
                     /region_name="HR1_FBP17"
                     /note="Protein kinase C-related kinase homology region 1
                     (HR1) Rho-binding domain of Formin Binding Protein 17;
                     cd11629"
                     /db_xref="CDD:212019"
     Site            order(404,407,410..411,414..415,417..418,421..422,
                     424..425,443..444,447,450..451,454)
                     /site_type="other"
                     /note="putative Rho binding site 1 [polypeptide binding]"
                     /db_xref="CDD:212019"
     Site            order(412..413,415..416,419..420,422..423,426..427,
                     438..439,441)
                     /site_type="other"
                     /note="putative Rho binding site 2 [polypeptide binding]"
                     /db_xref="CDD:212019"
     Region          538..593
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:450141"
     Site            order(544,546,549,553,572..573,587,589..590)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212690"
     CDS             1..606
                     /gene="FNBP1"
                     /gene_synonym="FBP17"
                     /coded_by="XM_005251828.4:215..2035"
                     /db_xref="GeneID:23048"
                     /db_xref="HGNC:HGNC:17069"
                     /db_xref="MIM:606191"
ORIGIN      
        1 mswgtelwdq fdnlekhtqw gidilekyik fvkerteiel syakqlrnls kkyqpkknsk
       61 eeeeykytsc kafisnlnem ndyagqhevi senmasqiiv dlaryvqelk qerksnfhdg
      121 rkaqqhietc wkqlesskrr ferdckeadr aqqyfekmda dinvtkadve karqqaqirh
      181 qmaedskady ssilqkfnhe qheyyhthip nifqkiqeme errivrmges mktyaevdrq
      241 vipiigkcld givkaaesid qkndsqlvie ayksgfeppg diefedytqp mkrtvsdnsl
      301 snsrgegkpd lkfggkskgk lwpfikknkp pppppasasp savpngpqsp kqqkeplshr
      361 fnefmtskpk ihcfrslkrg gatpedfsnl ppeqrrkklq qkvdelnkei qkemdqrdai
      421 tkmkdvylkn pqmgdpasld hklaevsqni eklrvetqkf eawlaevegr lparseqarr
      481 qsglydsqnp ptvnncaqdr espdgsytee qsqesemkvl atdfddefdd eeplpaigtc
      541 kalytfegqn egtisvvege tlyvieedkg dgwtrirrne deegyvptsy vevcldknak
      601 gaktyi
//
LOCUS       XP_006724900             305 aa            linear   PRI 20-MAR-2023
DEFINITION  tafazzin isoform X2 [Homo sapiens].
ACCESSION   XP_006724900
VERSION     XP_006724900.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006724837.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..305
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..305
                     /product="tafazzin isoform X2"
                     /calculated_mol_wt=33906
     Region          59..>169
                     /region_name="Acyltransferase"
                     /note="pfam01553"
                     /db_xref="CDD:366704"
     Region          60..294
                     /region_name="PlsC"
                     /note="1-acyl-sn-glycerol-3-phosphate acyltransferase
                     [Lipid transport and metabolism]; COG0204"
                     /db_xref="CDD:223282"
     Site            order(87,90,92,116..119,169,171..172)
                     /site_type="active"
                     /note="putative acyl-acceptor binding pocket [active]"
                     /db_xref="CDD:153251"
     CDS             1..305
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /coded_by="XM_006724837.2:306..1223"
                     /db_xref="GeneID:6901"
                     /db_xref="HGNC:HGNC:11577"
                     /db_xref="MIM:300394"
ORIGIN      
        1 mplhvkwpfp avppltwtla ssvvmglvgt yscfwtsewa qaeagppgyp cpageymnhl
       61 tvhnrevlye liekrgpatp litvsnhqsc mddphlwgil klrhiwnlkl mrwtpaaadi
      121 cftkelhshf fslgkcvpvc rgdgvyqkgm dfileklnhg dwvhifpegi grliaechln
      181 piilplwhvg epgdgdrema sgvgglglpl vpgcpapphv wpsvhcaagm ndvlpnsppy
      241 fprfgqkitv ligkpfsalp vlerlraenk savemrkalt dfiqeefqhl ktqaeqlhnh
      301 lqpgr
//
LOCUS       XP_054185944             196 aa            linear   PRI 20-MAR-2023
DEFINITION  survival motor neuron protein isoform X11 [Homo sapiens].
ACCESSION   XP_054185944
VERSION     XP_054185944.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329969.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187651.1) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..196
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     Protein         1..196
                     /product="survival motor neuron protein isoform X11"
                     /calculated_mol_wt=20953
     CDS             1..196
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3;
                     SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /coded_by="XM_054329969.1:164..754"
                     /db_xref="GeneID:6606"
                     /db_xref="HGNC:HGNC:11117"
                     /db_xref="MIM:600354"
ORIGIN      
        1 mamssggsgg gvpeqedsvl frrgtgqsdd sdiwddtali kaydkavasf khalkngdic
       61 etsgkpkttp krkpakknks qkkntaaslq qnenesqvst desensrspg nksdnikpks
      121 apwnsflppp ppmpgprlgp gkiipppppi cpdslddada lgsmliswym sgyhtgyymf
      181 peaslkaeqm papcfl
//
LOCUS       XP_054189038             173 aa            linear   PRI 20-MAR-2023
DEFINITION  protein tyrosine phosphatase type IVA 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054189038
VERSION     XP_054189038.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333063.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791786) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..173
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..173
                     /product="protein tyrosine phosphatase type IVA 3 isoform
                     X1"
                     /calculated_mol_wt=19404
     CDS             1..173
                     /gene="PTP4A3"
                     /gene_synonym="PRL-3; PRL-R; PRL3"
                     /coded_by="XM_054333063.1:3571..4092"
                     /db_xref="GeneID:11156"
                     /db_xref="HGNC:HGNC:9636"
                     /db_xref="MIM:606449"
ORIGIN      
        1 marmnrpapv evsykhmrfl ithnptnatl stfiedlkky gattvvrvce vtydktplek
       61 dgitvvdwpf ddgapppgkv vedwlslvka kfceapgscv avhcvaglgr apvlvalali
      121 esgmkyedai qfirqkrrga inskqltyle kyrpkqrlrf kdphthktrc cvm
//
LOCUS       XP_054187928             590 aa            linear   PRI 20-MAR-2023
DEFINITION  calpain-12 isoform X11 [Homo sapiens].
ACCESSION   XP_054187928
VERSION     XP_054187928.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331953.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_014040929.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..590
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     Protein         1..590
                     /product="calpain-12 isoform X11"
                     /calculated_mol_wt=66034
     CDS             1..590
                     /gene="CAPN12"
                     /coded_by="XM_054331953.1:310..2082"
                     /db_xref="GeneID:147968"
                     /db_xref="HGNC:HGNC:13249"
                     /db_xref="MIM:608839"
ORIGIN      
        1 masssgrvti qlvdeeagvg agrlqlfrgq syeairaacl dsgilfrdpy fpagpdalgy
       61 dqlgpdseka kgvkwmrphe fcaepkfice dmsrtdvcqg slgncwflaa aasltlyprl
      121 lrrvvppgqd fqhgyagvfh fqlwqfgrwm dvvvddrlpv regklmfvrs eqrnefwapl
      181 lekayaklhg syevmrgghm neafvdftgg vgevlylrqn smglfsalrh alakeslvga
      241 talsdrgeyr teeglvkgha ysitgthkvf lgftkvrllr lrnpwgcvew tgawsdscpr
      301 wdtlptecrd allvkkedge fwmelrdfll hfdtvqicsl spevlgpspe gggwhvhtfq
      361 grwvrgfnsg gsqpnaetfw tnpqfrltll epdeeddede egpwggwgaa gargparggr
      421 tpkctvllsl iqrnrrrlra kgltyltvgf hvfqipeell glwdsprsha llprllradr
      481 splsarrdvt rrcclrpghy lvvpstahag deadftlrvf serrhtavei ddvisadlqs
      541 lqgpylplel gleqlfqela geeeelnasq lqallsiale pdwetevpsg
//
LOCUS       XP_054190020             243 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-protein thioesterase 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054190020
VERSION     XP_054190020.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334045.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..243
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..243
                     /product="acyl-protein thioesterase 2 isoform X1"
                     /calculated_mol_wt=25955
     CDS             1..243
                     /gene="LYPLA2"
                     /gene_synonym="APT-2; APT2; DJ886K2.4"
                     /coded_by="XM_054334045.1:202..933"
                     /db_xref="GeneID:11313"
                     /db_xref="HGNC:HGNC:6738"
                     /db_xref="MIM:616143"
ORIGIN      
        1 myagprrgav wcmcgntmsv plltdaatvs gaeretaavi flhglgdtgh swadalstir
       61 lphvkyicph apripvtlnm kmvmpswfdl mglspdaped eagikkaaen ikaliehemk
      121 ngipanrivl ggfsqggals lytaltcphp lagivalscw lplhrafpqa angsakdlai
      181 lqchgeldpm vpvrfgalta eklrsvvtpa rvqfktypgv mhsscpqema avkeflekll
      241 ppv
//
LOCUS       XP_054190368             875 aa            linear   PRI 20-MAR-2023
DEFINITION  von Willebrand factor A domain-containing protein 5B1 isoform X9
            [Homo sapiens].
ACCESSION   XP_054190368
VERSION     XP_054190368.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334393.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..875
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..875
                     /product="von Willebrand factor A domain-containing
                     protein 5B1 isoform X9"
                     /calculated_mol_wt=96152
     CDS             1..875
                     /gene="VWA5B1"
                     /coded_by="XM_054334393.1:457..3084"
                     /db_xref="GeneID:127731"
                     /db_xref="HGNC:HGNC:26538"
ORIGIN      
        1 mlnfcpdlqs vqpclrkahg efiflidrss smsgismhrv kdamlvalks lmpaclfnii
       61 gfgstfkslf pssqtyseds lamacddiqr mkadmggtni lsplkwvirq pvhrghprll
      121 fvitdgavnn tgkvlelvrn hafstrcysf gigpnvchrl vkglasvseg saellmeger
      181 lqpkmvkslk kamapvlsdv tvewifpett evlvspvsas slfpgerlvg ygivcdaslh
      241 isnprsdkrr rysmlhsqes gssvfyhsqd dgpgleggdc aknsgapfil gqaknarlas
      301 gdsttkhdln lsqrrrayst nqitnhkplp ratmasdpmp aakryplrka rlqdltnqts
      361 ldvqrwqidl qpllnsgqdl nqgpklrgpg arrpsllpqg cqpflpwgqe tqawspvrer
      421 tsdsrspgdl epshhpsafe tetssdwdpp aesqerasps rpatpapvlg kalvkglhds
      481 qrlqwevsfe lgtpgpergg aqdadlwset fhhlaaraii rdfeqlaere geieqgsnrr
      541 yqvsalhtsk acniiskyta fvpvdvsksr ylptvveypn sgaalrmlgs ralaqqwrgt
      601 ssgfgrpqtm lgedsapgnd measptalfs earspgrekh gasegpqrsl atntlssmka
      661 senlfgswln lnksrlltra akgflskpli kavestsgnq sfdyiplvsl qlasgaflln
      721 eafceathip meklkwtspf tchrvslttr psesktpspq lctsspprhp scdsfslepl
      781 akgklglepr avvehtgklw atvvglawle hssasyftew elvaakansw leqqevpegr
      841 tqgtlkaaar qlfvllrhwd enlefnmlcy npnyv
//
LOCUS       XP_054192421              66 aa            linear   PRI 20-MAR-2023
DEFINITION  small vasohibin-binding protein isoform X1 [Homo sapiens].
ACCESSION   XP_054192421
VERSION     XP_054192421.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336446.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..66
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..66
                     /product="small vasohibin-binding protein isoform X1"
                     /calculated_mol_wt=7677
     CDS             1..66
                     /gene="SVBP"
                     /gene_synonym="CCDC23; NEDAHM"
                     /coded_by="XM_054336446.1:270..470"
                     /db_xref="GeneID:374969"
                     /db_xref="HGNC:HGNC:29204"
                     /db_xref="MIM:617853"
ORIGIN      
        1 mdpparkekt kvkesvsrve kakqksaqqe lkqrqraeiy alnrvmtele qqqfdefckq
       61 mqppge
//
LOCUS       XP_054193250             529 aa            linear   PRI 20-MAR-2023
DEFINITION  protoporphyrinogen oxidase isoform X5 [Homo sapiens].
ACCESSION   XP_054193250
VERSION     XP_054193250.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337275.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..529
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..529
                     /product="protoporphyrinogen oxidase isoform X5"
                     /calculated_mol_wt=56513
     CDS             1..529
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP"
                     /coded_by="XM_054337275.1:95..1684"
                     /db_xref="GeneID:5498"
                     /db_xref="HGNC:HGNC:9280"
                     /db_xref="MIM:600923"
ORIGIN      
        1 mgrtvvvlgg gisglaasyh lsrapcppkv vlvesserlg gwirsvrgpn gaifelgprg
       61 irpagalgar tlllacgeqv selgldsevl pvrgdhpaaq nrflyvggal halptglrgl
      121 lrpsppfskp lfwaglrelt kprgkepdet vhsfaqrrlg pevaslamds lcrgvfagns
      181 relsirscfp slfqaeqthr sillglllga grtpqpdsal irqalaerws qwslrgglem
      241 lpqalethlt srgvsvlrgq pvcglslqae grwkvslrds sleadhvisa ipasvlsell
      301 paeaaplara lsaitavsva vvnlqyqgah lpvqgfghlv pssedpgvlg ivydsvafpe
      361 qdgsppglrv tvmlggswlq tleasgcvls qelfqqraqe aaatqlglke mpshclvhlh
      421 ktknqlkwrq shdrtvewpk eypgrsrkqa psilhvpgcq llrcrdrdhl gaasvsthsq
      481 rtylvfccls spppqqpgrh rcrhlgsgrc gggvsrhgag prggatrad
//
LOCUS       XP_054193454             441 aa            linear   PRI 20-MAR-2023
DEFINITION  FGGY carbohydrate kinase domain-containing protein isoform X9 [Homo
            sapiens].
ACCESSION   XP_054193454
VERSION     XP_054193454.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337479.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..441
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..441
                     /product="FGGY carbohydrate kinase domain-containing
                     protein isoform X9"
                     /calculated_mol_wt=47776
     CDS             1..441
                     /gene="FGGY"
                     /coded_by="XM_054337479.1:1190..2515"
                     /db_xref="GeneID:55277"
                     /db_xref="HGNC:HGNC:25610"
                     /db_xref="MIM:611370"
ORIGIN      
        1 mprvlwlfwi ssfthyqstr knlreicwdk aghffdlpdf lswkatgvta rslcslvckw
       61 tysaekgwdd sfwkmigled fvadnyskig nqvlppgasl gngltpeaar dlgllpgiav
      121 aaslidahag glgvigadvr ghglicegqp vtsrlavicg tsschmgisk dpifvpgvwg
      181 pyfsamvpgf wlneggqsvt gklidhmvqg haafpelqvk atarcqsiya ylnshldlik
      241 kaqpvgfltv dlhvwpdfhg nrspladltl kgmrttgyly ipalaalhsp ssllspqvtg
      301 lklsqdlddl ailylatvqa ialgtrfiie ameaaghsis tlflcgglsk nplfvqmhad
      361 itgmpvvlsq evesvlvgaa vlgacasgdf asvqeamakm skvgkvvfpr lqdkkyydkk
      421 yqvflklveh qkeylaimnd d
//
LOCUS       XP_054195644             255 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box only protein 44 isoform X2 [Homo sapiens].
ACCESSION   XP_054195644
VERSION     XP_054195644.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339669.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..255
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..255
                     /product="F-box only protein 44 isoform X2"
                     /calculated_mol_wt=29616
     CDS             1..255
                     /gene="FBXO44"
                     /gene_synonym="FBG3; FBX30; Fbx44; FBX6A; Fbxo6a"
                     /coded_by="XM_054339669.1:578..1345"
                     /db_xref="GeneID:93611"
                     /db_xref="HGNC:HGNC:24847"
                     /db_xref="MIM:609111"
ORIGIN      
        1 mavgninelp enillelfth vparqlllnc rlvcslwrdl idlvtlwkrk clregfited
       61 wdqpvadwki fyflrslhrn llhnpcaeeg fefwsldvng gdewkvedls rdqrkefpnd
      121 qvkkyfvtsy ytclksqvvd lkaegyweel mdttrpdiev kdwfaarpdc gskyqlcvql
      181 lssahaplgt fqpdpatiqq ksdakwrevs htfsnyppgv ryiwfqhggv dthywagwyg
      241 prvtnssiti gpplp
//
LOCUS       XP_054224144            1379 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology-like domain family B member 1 isoform X27 [Homo
            sapiens].
ACCESSION   XP_054224144
VERSION     XP_054224144.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368169.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1379
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1379
                     /product="pleckstrin homology-like domain family B member
                     1 isoform X27"
                     /calculated_mol_wt=151050
     CDS             1..1379
                     /gene="PHLDB1"
                     /gene_synonym="LL5A; LL5alpha"
                     /coded_by="XM_054368169.1:762..4901"
                     /db_xref="GeneID:23187"
                     /db_xref="HGNC:HGNC:23697"
                     /db_xref="MIM:612834"
ORIGIN      
        1 mcawrakaaa ertparpggp latamhrlgr grgrppgtqe lwslrtmdal nrnqigpgcq
       61 tqtmvqkgpl dlietgkglk vqtdkphlvs lgsgrlstai tllpleegrt vigsaardis
      121 lqgpglapeh cyienlrgtl tlypcgnact idglpvrqpt rltqgcmlcl gqstflrfnh
      181 paeakwmksm ipaggrapgp pyspvpeses lvngnhtpqt atrgpsacas hsslvssiek
      241 dlqeimdslv leepgaagkk paatsplspm anggryllsp ptspgamsvg ssyentspaf
      301 splsspassg scashspsgq epgpsvpplv parsssyhla lqppqsrpsg arsesprlsr
      361 kggherppsp glrglltdsp aatvlaearr atesprlggq lpvvaislse ypasgalsqp
      421 tsipgspkfq ppvpaprnki gtlqdrppsp freppgserv lttspsrqlv grtfsdglat
      481 rtlqppespr lgrrgldsmr elpplspsls rralsplptr ttpdpklnre vaesprprrw
      541 aahgaspedf sltlgargrr trspsptlge slaphkgsfs grlspayslg sltgaspcqs
      601 pcvqrklssg dlrvpvtrer knsiteisdn eddlleyhrr qrqerlreqe merlerqrle
      661 tilnlcaeys radggpeage lpsigeataa lalagrrpsr glagasgrss eepgvatqrl
      721 wesmersdee nlkeecsste stqqehedap stklqgevla leeeraqvlg hveqlkvrvk
      781 eleqqlqesa reaemerall qgereaeral lqkeqkavdq lqeklvalet giqkerdkea
      841 ealetetklf edlefqqler esrveeerel agqgllrska ellrsiakrk erlaildsqa
      901 gqiraqavqe serlardkna slqllqkeke kltvlerryh sltggrpfpk ttstlkevyr
      961 skmdgeatsp lprtrsgplp sssgssssss qlsvatlgrs pspksalltq ngtgslprnl
     1021 aatlqdietk rqlalqqkve slpaeplptd dpagqqviee qrrrlaelkq kaaaeaqcqw
     1081 dalhgaapfp agpsgfpplm hhsilhhlpa grergeegeh aydtlsless dsmetsistg
     1141 gnsacspdnm ssasgldmgk ieemekmlke ahaeknrlme sreremelrr qaleeerrrr
     1201 eqverrlqse sarrqqlvek evkmrekqfs qarpltrylp irkedfdlkt hiessghgvd
     1261 tclhvvlssk vcrgylvkmg gkikswkkrw fvfdrlkrtl syyvdkhetk lkgviyfqai
     1321 eevyydhlrs aakspnpalt fcvkthdrly ymvapsaeam riwmdvivtg aegytqfmn
//
LOCUS       XP_054225851             638 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 143 isoform X5 [Homo sapiens].
ACCESSION   XP_054225851
VERSION     XP_054225851.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369876.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..638
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..638
                     /product="zinc finger protein 143 isoform X5"
                     /calculated_mol_wt=68764
     CDS             1..638
                     /gene="ZNF143"
                     /gene_synonym="pHZ-1; SBF; STAF"
                     /coded_by="XM_054369876.1:850..2766"
                     /db_xref="GeneID:7702"
                     /db_xref="HGNC:HGNC:12928"
                     /db_xref="MIM:603433"
ORIGIN      
        1 mllaqinrds qgmtefpggg meaqhvtlcl teavtvadgd nlenmegvsl qavtladgst
       61 ayiqhnskda klidgqviql edgsaayvqh vpipkstgds lrledgqavq ledgttafih
      121 htskdsydqs alqavqledg ttayihhavq vpqsdtilai qadgtvaglh tgdatidpdt
      181 isaleqyaak vsidgsesva gtgmigeneq ekkmqivlqg hatrvtaksq qsgekafrce
      241 ydgcgklytt ahhlkvhers htgdrpyqce hagcgkafat gyglkshvrt htgekpyrcs
      301 ednctksfkt sgdlqkhirt htgerpfkcp fegcgrsftt snirkvhvrt htgerpyyct
      361 epgcgrafas atnyknhvri htgekpyvct vpgcdkrfte ysslykhhvv hthskpyncn
      421 hcgktykqis tlamhkrtah ndtepieeeq eaffepppgq gedvlkgsqi tyvtgvegdd
      481 vvstqvatvt qsglsqqvtl isqdgtqhvn isqadmqaig ntitmvtqdg tpitvpahda
      541 vissagthsv amvtaegteg qqvaivaqdl aafhtassem ghqqhshhlv ttetrpltlv
      601 atsngtqiav qlgeqpslee airiasriqq getpgldd
//
LOCUS       XP_054226818             589 aa            linear   PRI 20-MAR-2023
DEFINITION  cleavage and polyadenylation specificity factor subunit 6 isoform
            X1 [Homo sapiens].
ACCESSION   XP_054226818
VERSION     XP_054226818.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370843.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..589
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..589
                     /product="cleavage and polyadenylation specificity factor
                     subunit 6 isoform X1"
                     /calculated_mol_wt=63496
     CDS             1..589
                     /gene="CPSF6"
                     /gene_synonym="CFIM; CFIM68; CFIM72; HPBRII-4; HPBRII-7"
                     /coded_by="XM_054370843.1:79..1848"
                     /db_xref="GeneID:11052"
                     /db_xref="HGNC:HGNC:13871"
                     /db_xref="MIM:604979"
ORIGIN      
        1 madgvdhidi yadvgeefnq eaeygghdqi dlyddvisps anngdapedr dymdtlpptv
       61 gddvgkgaap nvvytytgkr ialyignltw wttdedltea vhslgvndil eikffenran
      121 gqskgfalvg vgseasskkl mdllpkrelh gqnpvvtpcn kqflsqfemq srkttqsgqm
      181 sgegkagppg gssraafpqg grgrgrfpga vpggdrfpgp agpggppppf pgnlikhlvk
      241 gtrplfletr ipwhmghsie eipifglkag qtpprpplgp pgppgppgpp ppgqvlpppl
      301 agppnrgdrp pppvlfpgqp fgqpplgplp pgppppvpgy gpppgppppq qgpppppgpf
      361 pprppgplgp pltlappphl pgpppgappp aphvnpaffp pptnsgmpts dsrgppptdp
      421 ygrpppydrg dygppgremd tartplseae feeimnrnra isssaisrav sdasagdygs
      481 aietlvtais likqskvsad drckvlissl qdclhgiesk sygsgsrrre rsrerdhsrs
      541 reksrrhksr srdrhddyyr ersrererhr drdrdrdrer drereyrhr
//
LOCUS       XP_054226960             445 aa            linear   PRI 20-MAR-2023
DEFINITION  proton myo-inositol cotransporter isoform X5 [Homo sapiens].
ACCESSION   XP_054226960
VERSION     XP_054226960.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370985.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..445
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..445
                     /product="proton myo-inositol cotransporter isoform X5"
                     /calculated_mol_wt=47381
     CDS             1..445
                     /gene="SLC2A13"
                     /gene_synonym="HMIT"
                     /coded_by="XM_054370985.1:274..1611"
                     /db_xref="GeneID:114134"
                     /db_xref="HGNC:HGNC:15956"
                     /db_xref="MIM:611036"
ORIGIN      
        1 msrkasenve ytlrslsslm gerrrkqpep daasaagecs llaaaessts lqsagagggg
       61 vgdleraarr qfqqdetpaf vyvvavfsal ggflfgydtg vvsgamlllk rqlsldalwq
      121 ellvsstvga aavsalagga lngvfgrraa illasalfta gsavlaaann ketllagrlv
      181 vglgigiasm tvpvyiaevs ppnlrgrlvt intlfitggq ffasvvdgaf sylqkdgwry
      241 mlglaavpav iqffgflflp esprwliqkg qtqkarrils qmrgnqtide eydsiknnie
      301 eeekevgsag pvicrmlsyp ptrralivgc glqmfqqlsg intimyysat ilqmsgvedd
      361 rlaiwlasvt aftnfiftlv gvwlvekvgr rkltfgslag ttvaliilal gfvlsaqvsp
      421 ritfkpiaps gqnatctrys lqapy
//
LOCUS       XP_054230162             278 aa            linear   PRI 20-MAR-2023
DEFINITION  translation initiation factor IF-3, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_054230162
VERSION     XP_054230162.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374187.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..278
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..278
                     /product="translation initiation factor IF-3,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=31560
     CDS             1..278
                     /gene="MTIF3"
                     /gene_synonym="IF3mt"
                     /coded_by="XM_054374187.1:720..1556"
                     /db_xref="GeneID:219402"
                     /db_xref="HGNC:HGNC:29788"
                     /db_xref="MIM:619554"
ORIGIN      
        1 maalflkrlt lqtvksensc ircfgkhilq ktapaqlspi asaprlsfli hakafstaed
       61 tqnegkktkk nktafsnvgr kisqrvihlf dekgndlgnm hranvirlmd erdlrlvqrn
      121 tstepaeyql mtglqilqer qrlremekan pktgptlrke lilssnigqh dldtktkqiq
      181 qwikkkhlvq itikkgknvd vsenemeeif hqilqtmpgi atfssrpqav qggkalmcvl
      241 ralskneeka yketqetqer dtlnkdhgnd kesnvlhq
//
LOCUS       XP_054232215             571 aa            linear   PRI 20-MAR-2023
DEFINITION  kelch-like protein 28 isoform X1 [Homo sapiens].
ACCESSION   XP_054232215
VERSION     XP_054232215.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376240.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..571
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..571
                     /product="kelch-like protein 28 isoform X1"
                     /calculated_mol_wt=64061
     CDS             1..571
                     /gene="KLHL28"
                     /gene_synonym="BTBD5"
                     /coded_by="XM_054376240.1:687..2402"
                     /db_xref="GeneID:54813"
                     /db_xref="HGNC:HGNC:19741"
ORIGIN      
        1 mdhtsptyml anlthlhseq llqglnllrq hhelcdiilr vgdvkihahk vvlasvspyf
       61 kamftgnlse kensevefqc idetalqaiv eyaytgtvfi sqdtvesllp aanllqiklv
      121 lkeccafles qldpgncigi srfaetygcr dlylaatkyi cqnfeavcqt eeffelthad
      181 ldeivsndcl nvateetvfy aleswikydv qerqkylaql lnsvrlplls vkfltrlyea
      241 nhlirddrtc khllnealky hfmpehrlsh qtvlmtrprc apkvlcavgg ksglfaclds
      301 vemyfpqnds wiglaplnip ryefgicvld qkvyviggia tnvrpgvtir khensvecwn
      361 pdtntwtsle rmnesrstlg vvvlagelya lggydgqsyl qsvekyipki rkwqpvapmt
      421 ttrscfaaav ldgmiyaigg ygpahmnsve rydpskdswe mvasmadkri hfgvgvmlgf
      481 ifvvgghngv shlssieryd phqnqwtvcr pmkeprtgvg aavidnylyv vgghsgssyl
      541 ntvqkydpis dtwldsagmi ycrcnfglta l
//
LOCUS       XP_054170909             202 aa            linear   PRI 20-MAR-2023
DEFINITION  cytoglobin isoform X1 [Homo sapiens].
ACCESSION   XP_054170909
VERSION     XP_054170909.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314934.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..202
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..202
                     /product="cytoglobin isoform X1"
                     /calculated_mol_wt=22815
     CDS             1..202
                     /gene="CYGB"
                     /gene_synonym="HGB; STAP"
                     /coded_by="XM_054314934.1:168..776"
                     /db_xref="GeneID:114757"
                     /db_xref="HGNC:HGNC:16505"
                     /db_xref="MIM:608759"
ORIGIN      
        1 mekvpgemei errerseels eaerkavqam warlyanced vgvailvrff vnfpsakqyf
       61 sqfkhmedpl emerspqlrk hacrvmgaln tvvenlhdpd kvssvlalvg kahalkhkve
      121 pvyfkilsgv ilevvaeefa sdfppetqra waklrgliys hvtaaykevg wvqqvpnatt
      181 hsswrrspeg swgrqascps cc
//
LOCUS       XP_054172807             260 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA repair protein RAD51 homolog 3 isoform X3 [Homo sapiens].
ACCESSION   XP_054172807
VERSION     XP_054172807.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316832.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..260
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..260
                     /product="DNA repair protein RAD51 homolog 3 isoform X3"
                     /calculated_mol_wt=29183
     CDS             1..260
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
                     /coded_by="XM_054316832.1:301..1083"
                     /db_xref="GeneID:5889"
                     /db_xref="HGNC:HGNC:9820"
                     /db_xref="MIM:602774"
ORIGIN      
        1 mktteicgap gvgktqlcmq lavdvqipec fggvageavf idtegsfmvd rvvdlataci
       61 qhlqliaekh kgeehrkale dftldnilsh iyyfrcrdyt ellaqvyllp dflsehskvr
      121 lvivdgiafp frhdlddlsl rtrllnglaq qmislannhr laviltnqmt tkidrnqall
      181 vpalgeswgh aatirlifhw drkqsrlatl ykspsqkect vlfqikpqgf rdtvvtsacs
      241 lqtegslstr krsrdpeeel
//
LOCUS       XP_054173037             246 aa            linear   PRI 20-MAR-2023
DEFINITION  carbonic anhydrase 4 isoform X3 [Homo sapiens].
ACCESSION   XP_054173037
VERSION     XP_054173037.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317062.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..246
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..246
                     /product="carbonic anhydrase 4 isoform X3"
                     /calculated_mol_wt=27532
     CDS             1..246
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /coded_by="XM_054317062.1:787..1527"
                     /db_xref="GeneID:762"
                     /db_xref="HGNC:HGNC:1375"
                     /db_xref="MIM:114760"
ORIGIN      
        1 mmllenkasi sggglpapyq akqlhlhwsd lpykgsehsl dgehfamemh ivhekekgts
       61 rnvkeaqdpe deiavlaflv eigrmnwppp lapcrlsqdp slpfqagtqv negfqplvea
      121 lsnipkpems ttmaesslld llpkeeklrh yfrylgsltt ptcdekvvwt vfrepiqlhr
      181 eqilafsqkl yydkeqtvsm kdnvrplqql gqrtviksga pgrplpwalp allgpmlacl
      241 lagflr
//
LOCUS       XP_054173815             252 aa            linear   PRI 20-MAR-2023
DEFINITION  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4
            [Homo sapiens].
ACCESSION   XP_054173815
VERSION     XP_054173815.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317840.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..252
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..252
                     /product="N-acetylglucosaminyl-phosphatidylinositol
                     de-N-acetylase isoform X4"
                     /calculated_mol_wt=28400
     CDS             1..252
                     /gene="PIGL"
                     /gene_synonym="CHIME"
                     /coded_by="XM_054317840.1:18..776"
                     /db_xref="GeneID:9487"
                     /db_xref="HGNC:HGNC:8966"
                     /db_xref="MIM:605947"
ORIGIN      
        1 meamwllcva lavlawgflw vwdssermks reqggrlgae srtllviahp ddeamffapt
       61 vlglarlrhw vyllcfsagn yynqgetrkk ellqscdvlg iplssvmiid nrdfpddpgm
      121 qwdtehvarv llqhievngi nlvvtfdagg vsghsnhial yaavralhse gklpkgcsvl
      181 tlqsvnvlrk yislldlpls llhtqdvlfv lnskevaqak kamschrsql lwfrrlyiif
      241 srymrinsls fl
//
LOCUS       XP_054173817             252 aa            linear   PRI 20-MAR-2023
DEFINITION  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4
            [Homo sapiens].
ACCESSION   XP_054173817
VERSION     XP_054173817.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317842.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..252
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..252
                     /product="N-acetylglucosaminyl-phosphatidylinositol
                     de-N-acetylase isoform X4"
                     /calculated_mol_wt=28400
     CDS             1..252
                     /gene="PIGL"
                     /gene_synonym="CHIME"
                     /coded_by="XM_054317842.1:18..776"
                     /db_xref="GeneID:9487"
                     /db_xref="HGNC:HGNC:8966"
                     /db_xref="MIM:605947"
ORIGIN      
        1 meamwllcva lavlawgflw vwdssermks reqggrlgae srtllviahp ddeamffapt
       61 vlglarlrhw vyllcfsagn yynqgetrkk ellqscdvlg iplssvmiid nrdfpddpgm
      121 qwdtehvarv llqhievngi nlvvtfdagg vsghsnhial yaavralhse gklpkgcsvl
      181 tlqsvnvlrk yislldlpls llhtqdvlfv lnskevaqak kamschrsql lwfrrlyiif
      241 srymrinsls fl
//
LOCUS       XP_054175822             881 aa            linear   PRI 20-MAR-2023
DEFINITION  V-set and immunoglobulin domain-containing protein 10-like isoform
            X1 [Homo sapiens].
ACCESSION   XP_054175822
VERSION     XP_054175822.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319847.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..881
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..881
                     /product="V-set and immunoglobulin domain-containing
                     protein 10-like isoform X1"
                     /calculated_mol_wt=92713
     CDS             1..881
                     /gene="VSIG10L"
                     /coded_by="XM_054319847.1:1460..4105"
                     /db_xref="GeneID:147645"
                     /db_xref="HGNC:HGNC:27111"
                     /db_xref="MIM:617740"
ORIGIN      
        1 mdnpqalplf lllaslvgil tlrassglqq tnfssafssd sksssqglgv evpsikppsw
       61 kvpdqfldsk asagisdssw fpealssnms gsfwsnvsae gqdlspvspf setpgsevfp
      121 disdpqvpak dpkpsftvkt pasnistqvs htklsveapd skfspddmdl klsaqspesk
      181 fsaethsaas fpqqvggpla vlvgttirlp lvpipnpgpp tslvvwrrgs kvlaagglgp
      241 gaplisldpa hrdhlrfdqa rgvlelasaq lddagvytae viragvsqqt heftvgvyep
      301 lpqlsvqpka peteegaael rlrclgwgpg rgelswsrdg raleaaeseg aetprmrseg
      361 dqllivrpvr sdharytcrv rspfghreaa advsvfygpd pptitvssdr daaparfvta
      421 gsnvtlrcaa asrppaditw sladpaeaav pagsrlllpa vgpghagtya claanprtgr
      481 rrrsllnltv adlppgapqc sveggpgdrs lrfrcswpgg apaaslqfqg lpegiragpv
      541 ssvllaavpa hprlsgvpit clarhlvatr tctvtpeapr evllhplvae trlgeaeval
      601 easgcpppsr aswaregrpl apgggsrlrl sqdgrklhig nfsldwdlgn ysvlcsgalg
      661 aggdqitlig psisswrlqr ardaavltwd vergalissf eiqawpdgpa lgrtstyrdw
      721 vsllilgpqe rsavvplppr npgtwtfril pilggqpgtp sqsrvyragp tlshgaiagi
      781 vlgsllglal lavllllcic clcrfrgktp ekkkhpstlv pvvtpsekkm hsvtpveisw
      841 pldlkvpled hsstrayqat dpssvvsvgg gsktvraatq v
//
LOCUS       XP_054178416             140 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 isoform X1
            [Homo sapiens].
ACCESSION   XP_054178416
VERSION     XP_054178416.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322441.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..140
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..140
                     /product="alpha-ketoglutarate-dependent dioxygenase alkB
                     homolog 6 isoform X1"
                     /calculated_mol_wt=15193
     CDS             1..140
                     /gene="ALKBH6"
                     /gene_synonym="ABH6"
                     /coded_by="XM_054322441.1:7..429"
                     /db_xref="GeneID:84964"
                     /db_xref="HGNC:HGNC:28243"
                     /db_xref="MIM:613304"
ORIGIN      
        1 magrgmgmln leiggdaggr igckelvlme eqdarvpale pfrveqappv iyyvpdfisk
       61 eeeeyllrqv fnapkpkwtq lsgrklqnwg gpsgphclpq vgflipegwf lsgcphgssa
      121 twtkcqtsas leasqltmss
//
LOCUS       XP_054196027             348 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear envelope integral membrane protein 2 isoform X7 [Homo
            sapiens].
ACCESSION   XP_054196027
VERSION     XP_054196027.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340052.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..348
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..348
                     /product="nuclear envelope integral membrane protein 2
                     isoform X7"
                     /calculated_mol_wt=40525
     CDS             1..348
                     /gene="NEMP2"
                     /gene_synonym="TMEM194B"
                     /coded_by="XM_054340052.1:456..1502"
                     /db_xref="GeneID:100131211"
                     /db_xref="HGNC:HGNC:33700"
                     /db_xref="MIM:616497"
ORIGIN      
        1 mqvkitspgl frivyiaerh ncqypenils fikcvihnfw ipkesneiti iinpyretvc
       61 fsvepvkkif nymihvnrni mdfklflvfv agvflffyar tlsqsptfyy ssgtvlgvlm
      121 tlvfvlllvk rfipkystfw almvgcwfas vyivcqlmed lkwlwyenri yvlgyvlivg
      181 ffsfvvcykh gpladdrsrs llmwmlrlls lvlvyagvav pqfayaaiil lmsswslhyp
      241 lracsymrwk meqwftskel vvkyltedey reqadaetns aleelrracr kpdfpswlvv
      301 srlhtpskfa dfvlggshls peeislheeq yglggaflee qlfnpsta
//
LOCUS       XP_054197406             327 aa            linear   PRI 20-MAR-2023
DEFINITION  SH2 domain-containing protein 6 isoform X6 [Homo sapiens].
ACCESSION   XP_054197406
VERSION     XP_054197406.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341431.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..327
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..327
                     /product="SH2 domain-containing protein 6 isoform X6"
                     /calculated_mol_wt=35258
     CDS             1..327
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /coded_by="XM_054341431.1:764..1747"
                     /db_xref="GeneID:284948"
                     /db_xref="HGNC:HGNC:30439"
ORIGIN      
        1 mqmmgtmepl spghlwqilg sreakllclc hgqaqweqap agataptpqm cglprlerrc
       61 sqpflpacpr dletqdhsgp lgpskpsppl pqptmlkgav slpvagkqgp ifgrreqgas
      121 srvvpgppkk pdedlylece pdpvlaltqt lsfqvlmpsg plprtsvvpr pttapqetrn
      181 gtadaaskeg rksslpsvap tgsasaaeds dlltqpwysg ncdryavesa llhlqkdgay
      241 tvrpssgphg sqpftlavll rgrvfnipir rldggrhyal gregrnreel fssvaamvqh
      301 fmwhplplvd rhsgsreltc llfptkp
//
LOCUS       XP_054201102             609 aa            linear   PRI 20-MAR-2023
DEFINITION  oxysterol-binding protein-related protein 10 isoform X7 [Homo
            sapiens].
ACCESSION   XP_054201102
VERSION     XP_054201102.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345127.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..609
                     /product="oxysterol-binding protein-related protein 10
                     isoform X7"
                     /calculated_mol_wt=68351
     CDS             1..609
                     /gene="OSBPL10"
                     /gene_synonym="ORP10; OSBP9"
                     /coded_by="XM_054345127.1:403..2232"
                     /db_xref="GeneID:114884"
                     /db_xref="HGNC:HGNC:16395"
                     /db_xref="MIM:606738"
ORIGIN      
        1 mpgyfvldfe agilqyfvne qskhqkprgv lslsgaivsl sdeaphmlvv ysangemfkl
       61 raadakekqf wvtqlracak yhmemnskmm nqvegqqknl vhaieslpgs gpltaldqdl
      121 lllkatsaat lsclgeclnl lqqsvhqagq psqkpgasen ilgwhgsksh steqlkngtl
      181 gslpsasani twailpnsae deqtsqpepe pnsgselvls edeksdnedk eetelgvmed
      241 qrsiilhlis qlklgmdltk vvlptfilek rsllemyadf mahpdlllai tagatpeerv
      301 icfveyylta fhegrkgala kkpynpiige tfhcswevpk drvkpkrtas rspaschehp
      361 maddpsksyk lrfvaeqvsh hppiscfyce ceekrlcvnt hvwtkskfmg msvgvsmige
      421 gvlrllehge eyvftlpsay arsiltipwv elggkvsinc aktgysatvi fhtkpfyggk
      481 vhrvtaevkh nptntivcka hgewngtlef tynngetkvi dtttlpvypk kirplekqgp
      541 mesrnlwrev trylrlgdid aateqkrhle ekqrveerkr enlrtpwkpk yfiqegdgwv
      601 yfnplwkah
//
LOCUS       XP_054201279             317 aa            linear   PRI 20-MAR-2023
DEFINITION  oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial
            isoform X2 [Homo sapiens].
ACCESSION   XP_054201279
VERSION     XP_054201279.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345304.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..317
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..317
                     /product="oxygen-dependent coproporphyrinogen-III oxidase,
                     mitochondrial isoform X2"
                     /calculated_mol_wt=33845
     CDS             1..317
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /coded_by="XM_054345304.1:108..1061"
                     /db_xref="GeneID:1371"
                     /db_xref="HGNC:HGNC:2321"
                     /db_xref="MIM:612732"
ORIGIN      
        1 malqlgrlss gpcwlvargg cggprawsqc gggglrawsq rsaagrvcrp pgpagteqsr
       61 glghgstsrg gpwvgtglaa alaglvglat aafghvqrae mlpktsgtra tslgrpeeee
      121 delahrcssf mappvtdlge lrrrpgdmkt kmelliletq aqvcqalaqv dgganfsvdr
      181 werkeggggi scvlqdgcvf ekagvsisvv hgnlseeaak qmrsrgkvlk tkdgklpfca
      241 mgvssvihpk nphaptihfn yryfeveead ghkqwwfggg cdltptylnq edavhfhrtl
      301 keacdqhgpd lypkfkk
//
LOCUS       XP_054205817             767 aa            linear   PRI 20-MAR-2023
DEFINITION  guanylate cyclase soluble subunit alpha-1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054205817
VERSION     XP_054205817.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349842.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 12% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..767
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..767
                     /product="guanylate cyclase soluble subunit alpha-1
                     isoform X2"
                     /calculated_mol_wt=85993
     CDS             1..767
                     /gene="GUCY1A1"
                     /gene_synonym="GC-S-alpha-1; GC-SA3; GCS-alpha-3; GUC1A3;
                     GUCA3; GUCSA3; GUCY1A3; MYMY6"
                     /coded_by="XM_054349842.1:193..2496"
                     /db_xref="GeneID:2982"
                     /db_xref="HGNC:HGNC:4685"
                     /db_xref="MIM:139396"
ORIGIN      
        1 mpgprrqqgw rrwrasgqlh pagcgvgkrr vllhskscdr waaqrrqpan cpaaprvsyk
       61 nysssggdrs rvrdtntmfc tklkdlkitg ecpfsllapg qvpnesseea agssesckat
      121 vpicqdipek niqeslpqrk tsrsrvylht laesicklif peferlnval qrtlakhkik
      181 esrkslered fektiaeqav aagvpvevik eslgeevfki cyeedenilg vvggtlkdfl
      241 nsfstllkqs shcqeagkrg rledasilcl dkeddflhvy yffpkrttsl ilpgiikaaa
      301 hvlyetevev slmppcfhnd csefvnqpyl lysvhmkstk pslspskpqs slviptslfc
      361 ktfpfhfmfd kdmtilqfgn girrlmnrrd fqgkpnfeey feiltpkinq tfsgimtmln
      421 mqfvvrvrrw dnsvkkssrv mdlkgqmiyi vessailflg spcvdrledf tgrglylsdi
      481 pihnalrdvv ligeqaraqd glkkrlgklk atleqahqal eeekkktvdl lcsifpceva
      541 qqlwqgqvvq akkfsnvtml fsdivgftai csqcsplqvi tmlnalytrf dqqcgeldvy
      601 kvetigdayc vagglhkesd thavqialma lkmmelsdev msphgepikm riglhsgsvf
      661 agvvgvkmpr yclfgnnvtl ankfescsvp rkinvsptty rllkdcpgfv ftprsreelp
      721 pnfpseipgi chfldayqqg tnskpcfqkk dvedgnanfl gkasgid
//
LOCUS       XP_054209447             869 aa            linear   PRI 20-MAR-2023
DEFINITION  multiple C2 and transmembrane domain-containing protein 1 isoform
            X13 [Homo sapiens].
ACCESSION   XP_054209447
VERSION     XP_054209447.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353472.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 19% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..869
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..869
                     /product="multiple C2 and transmembrane domain-containing
                     protein 1 isoform X13"
                     /calculated_mol_wt=96014
     CDS             1..869
                     /gene="MCTP1"
                     /coded_by="XM_054353472.1:514..3123"
                     /db_xref="GeneID:79772"
                     /db_xref="HGNC:HGNC:26183"
                     /db_xref="MIM:616296"
ORIGIN      
        1 mepraaaage peppaasssf qarlwknlql gvgrskgggg graggperrt adtpspsppp
       61 pvgtgnapar gsgagsrwsg fkkrkqvldr vfsssqpnlc csspeplepg gagraeqgst
      121 lrrrirehll pavkgpaaas gaaggtppgg rspdsapsss sassslsssp qppprgdrar
      181 degarrqgpg ahlchqksss lpgtacleql lepppppaep arspaesrap etgeehgssq
      241 kiintagtsn aevpladpgm yqlditlrrg qslaardrgg tsdpyvkfki ggkevfrski
      301 ihknlnpvwe ekacilvdhl replyikvfd ydfglqddfm gsafldltql elnrptdvtl
      361 tlkdphypdh dlgiillsvi ltpkegesrd vtmlmrkswk rsskelsene vvgsyfsvks
      421 lfwrtcgrpa lpvlgfcrae lqnpycknvq fqtqslrlsd lhrkshlwrg ivsitliegr
      481 dlkamdsngl sdpyvkfrlg hqkykskimp ktlnpqwreq fdfhlyeerg gviditawdk
      541 dagkrddfig rcqvdlsals reqthklelq leegeghlvl lvtltasatv sisdlsvnsl
      601 edqkereeil krysplrifh nlkdvgflqv kviraeglma advtgksdpf cvvelnndrl
      661 lthtvyknln pewnkvftfn ikdihsvlev tvydedrdrs adflgkvaip llsiqngeqk
      721 ayvlknkqlt gptkgviyle idvifnavka slrtlipkeq kyieeenrls kqlllrnfir
      781 mkrcvmvlvn aayyvnscfd wdspprslaa fvvvedmled eeeeddkddk yfqldcpilk
      841 laghcsplcv hshpvlhsae ihcpclghq
//
LOCUS       XP_054210746            2442 aa            linear   PRI 20-MAR-2023
DEFINITION  protein dopey-1 isoform X10 [Homo sapiens].
ACCESSION   XP_054210746
VERSION     XP_054210746.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354771.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2442
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2442
                     /product="protein dopey-1 isoform X10"
                     /calculated_mol_wt=274701
     CDS             1..2442
                     /gene="DOP1A"
                     /gene_synonym="dJ202D23.2; DOP1; DOPEY1; KIAA1117"
                     /coded_by="XM_054354771.1:163..7491"
                     /db_xref="GeneID:23033"
                     /db_xref="HGNC:HGNC:21194"
                     /db_xref="MIM:616823"
ORIGIN      
        1 mnteelells dskyrnyvaa idkalknfey ssewadlisa lgklnkvlqn nakyqvvpkk
       61 ltigkrlaqc lhpalpggvh rkaletyeii fkiigpkrla kdlflyssgl fpllanaams
      121 vkptllslye iyylplgktl kpglqglltg ilpgleegse yyertnmlle kvaaavdqsa
      181 fysalwgsll tspavrlpgi tyvlahlnrk lsmedqlyii gsdielmatr pdmirilsaa
      241 lhvvlrrdms lnrrlyawll gfdnngaiig prstrhsnpe ehatyyfttf skellvqamv
      301 gilqvngfge entlmqdlkp frilislldk pelgpviled vlievfrtly sqckaeldlq
      361 teppfskdha qlssklrenk ktaeliktan llfnsfepyy mwdyvarwfe eccrrtlhvr
      421 lqigpgdsnd sselqltnfc llvdflldiv sletyieiqt ehlpqlllrm isaltshlqt
      481 lhlseltdsl rlcskilskv qppllsastg gvlqfpsgqn nsvkewedkk vssvshenpt
      541 evfedgenpp ssrssesgft efiqyqadrt ddidrelseg qgaaaipigs tssetetast
      601 vgseetiiqt psvvtqgtat rsrktaqkta mqccleyvqq fltrlinlyi iqsnsfsqsl
      661 atehqgdlgr eqgetskwdr nsqgdvkekn iskqktskey lsaflaacql flecssfpvy
      721 iaegnhtsel rsekletdce hvqppqwlqt lmnacsqasd fsvqsvaisl vmdlvgltqs
      781 vamvtgenin svepaqplsp nqgrvavvir ppltqgnlry iaekteffkh valtlwdqlg
      841 dgtpqhhqks velfyqlhnl vpsssicedv isqqlthkdk kirmeahakf avlwhltrdl
      901 hinksssfvr sfdrslfiml dslnsldgst ssvgqawlnq vlqrhdiarv lepllllllh
      961 pktqrvsvqr vqaerywnks pcypgeesdk hfmqnfacsn vsqvqlitsk gngekpltmd
     1021 eienfsltvn plsdrlslls tssetipmvv sdfdlpdqqi eilqssdsgc sqssagdnls
     1081 yevdpetvna qedsqmpkes spdddvqqvv fdlickvvsg levesasvts qleieamppk
     1141 csdidpdeet ikieddsiqq sqnallsnes sqflsvsaeg ghecvangis rnssspcisg
     1201 tthtlhdssv asietksrqr shssiqfsfk eklsekvsek etivkesgkq pgakpkvkla
     1261 rkkdddkkks sneklkqtsv ffsdgldlen wyscgegdis eiesdmgspg srkspnfnih
     1321 plyqhvllyl qlydssrtly afsaikailk tnpiafvnai sttsvnnayt pqlsllqnll
     1381 arhrisvmgk dfyshipvds nhnfrssmyi eilislclyy mrshypthvk vtaqdlignr
     1441 nmqmmsieil tllftelakv iessakgfps fisdmlskck vqkvilhcll ssifsaqkwh
     1501 sekmagknlv aveegfseds linfsedefd ngstlqsqll kvlqrlivle hrvmtipeen
     1561 etgfdfvvsd lehisphqpm tslqylhaqp itcqgmflca viralhqhca ckmhpqwigl
     1621 itstlpymgk vlqrvvvsvt lqlcrnldnl iqqykyetgl sdsrplwmas iippdmiltl
     1681 legitaiihy clldpttqyh qllvsvdqkh lfearsgils ilhmimssvt llwsilhqad
     1741 ssekmtiaas aslttinlga tknlrqqile llgpismnhg vhfmaaiafv wnerrqnktt
     1801 trtkvipaas eeqlllvelv rsisvmraet viqtvkevlk qppaiakdkk hlslevcmlq
     1861 ffyayiqrip vpnlvdswas llillkdsiq lslpapgqfl ilgvlnefim knpslenkkd
     1921 qrdlqdvthk ivdaigaiag ssleqttwlr rnlevkpspk imvdgtnles dvedmlspam
     1981 etanitpsvy svhaltllse vlahlldmvf ysdekervip llvnimhyvv pylrnhsahn
     2041 apsyracvql lsslsgyqyt rrawkkeafd lfmdpsffqm dascvnhwra imdnlmthdk
     2101 ttfrdlmtrv avaqssslnl fanrdveleq ramllkrlaf aifsseidqy qkylpdiqer
     2161 lveslrlpqv ptlhsqvflf frvlllrmsp qhltslwptm itelvqvfll meqeltaded
     2221 isrtsgpsva glettytggn gfstsynsqr wlnlylsack fldlalalps enlpqfqmyr
     2281 wafipeasdd sglevrrqgi hqrefkpyvv rlakllrkra kdkeedfktv ileglemakh
     2341 qknpeednsg rtlgwepghl lltictvrsm eqllpffnvl sqvfnskvts rcgghsgspi
     2401 lysnafpnkd mklenhkpcs skarqkieem vekdflegmi kt
//
LOCUS       XP_054211738             924 aa            linear   PRI 20-MAR-2023
DEFINITION  sine oculis-binding protein homolog isoform X1 [Homo sapiens].
ACCESSION   XP_054211738
VERSION     XP_054211738.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355763.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..924
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..924
                     /product="sine oculis-binding protein homolog isoform X1"
                     /calculated_mol_wt=98231
     CDS             1..924
                     /gene="SOBP"
                     /gene_synonym="JXC1; MRAMS"
                     /coded_by="XM_054355763.1:501..3275"
                     /db_xref="GeneID:55084"
                     /db_xref="HGNC:HGNC:29256"
                     /db_xref="MIM:613667"
ORIGIN      
        1 maemekegrp penkrsrkpa hpvkreinee mknfaentmn ellgwygydk velkdgedie
       61 frsyptdges rqhisvlken slpkpklped svispynist gysglatgng lsdspagskd
      121 hgsvpiivpl ipppfikppa gtvggdrcps kyfrnfpsvl dshesykgvv nlqfnclesi
      181 nalliffghw seddvsnvqi mcawcqkvgi kryslsmgse vksfcsekcf aacrrayfkr
      241 nkardedgha enfpqqhyak etprlafknn cellvcdwck hirhtkeyld fgdgerrlqf
      301 csakclnqyk mdifyketqa nlpaglcstl hppmenkaeg tgvqlltpds wnipltdarr
      361 kapspvatag qsqgpgpsas ttvspsdtan csvtkiptpv pksipisetp nippvsvqpp
      421 asigpplgvp prsppmvmtn rgpvplpifm eqqimqqirp pfirgpphha snpnsplsnp
      481 mlpgigpppg gprnlgptss pmhrpmlsph ihppstptmp gnppgllppp ppgaplpslp
      541 fppvsmmpng pmpvpqmmnf glpslaplvp pptllvpypv ivplpvpipi pipiphvsds
      601 kppngfssng enfipnapgd saaaggkpsg hslsprdskq gssksadspp gcsgqalsla
      661 ptpaehgrse vvdltrrags ppgppgaggq lgfpgvlqgp qdgvidltvg hrarlhnvih
      721 ralhahvkae repgaaerrt cggcrdghcs ppaagdpgpg apagpeaaaa cnvivngtrg
      781 aaaegaksae pppeqppppp ppappkklls peepavsele svkenncasn chldgeaakk
      841 lmgeealagg dksdpnlnnp adedhayalr mlpktgcviq pvpkpaekaa mapciisspm
      901 lsagpedlep plkrrclrir nqnk
//
LOCUS       XP_054214108             110 aa            linear   PRI 20-MAR-2023
DEFINITION  gap junction gamma-3 protein isoform X1 [Homo sapiens].
ACCESSION   XP_054214108
VERSION     XP_054214108.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358133.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..110
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..110
                     /product="gap junction gamma-3 protein isoform X1"
                     /calculated_mol_wt=12475
     CDS             1..110
                     /gene="GJC3"
                     /gene_synonym="CX29; CX30.2; CX31.3; GJE1"
                     /coded_by="XM_054358133.1:1128..1460"
                     /db_xref="GeneID:349149"
                     /db_xref="HGNC:HGNC:17495"
                     /db_xref="MIM:611925"
ORIGIN      
        1 mcgrflrrll aeesrrstpv grlllpvllg frlvllaasg pgvygdeqse fvchtqqpgc
       61 kaacfdafhp lsplrfwvfq rapedtrkqp iasqwwkpks nfkkqfqeea
//
LOCUS       XP_054215409             493 aa            linear   PRI 20-MAR-2023
DEFINITION  engulfment and cell motility protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054215409
VERSION     XP_054215409.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359434.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..493
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..493
                     /product="engulfment and cell motility protein 1 isoform
                     X3"
                     /calculated_mol_wt=56562
     CDS             1..493
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /coded_by="XM_054359434.1:541..2022"
                     /db_xref="GeneID:9844"
                     /db_xref="HGNC:HGNC:16286"
                     /db_xref="MIM:606420"
ORIGIN      
        1 mpppadivkv aiewpgaypk lmeidqkkpl saiikevcdg wslanheyfa lqhadssnfy
       61 iteknrneik ngtilrltts paqnaqqlhe riqsssmdak lealkdlasl srdvtfaqef
      121 inldgisllt qmvesgtery qklqkimkpc fgdmlsftlt afvelmdhgi vswdtfsvaf
      181 ikkiasfvnk saidisilqr slailesmvl nshdlyqkva qeitigqlip hlqgsdqeiq
      241 tytiavinal flkapderrq emanilaqkq lrsiilthvi raqrainnem ahqlyvlqvl
      301 tfnlledrmm tkmdpqdqaq rdiifelrri afdaesepnn ssgsmekrks mytrdykklg
      361 finhvnpamd ftqtppgmla ldnmlyfakh hqdayirivl enssredkhe cpfgrssiel
      421 tkmlceilkv gelpsetcnd fhpmffthdr sfeeffcici qllnktwkem ratsedfnkv
      481 mwisdrgrgf pqr
//
LOCUS       XP_054215754             873 aa            linear   PRI 20-MAR-2023
DEFINITION  netrin receptor UNC5D isoform X14 [Homo sapiens].
ACCESSION   XP_054215754
VERSION     XP_054215754.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359779.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..873
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..873
                     /product="netrin receptor UNC5D isoform X14"
                     /calculated_mol_wt=96830
     CDS             1..873
                     /gene="UNC5D"
                     /gene_synonym="PRO34692; Unc5h4"
                     /coded_by="XM_054359779.1:311..2932"
                     /db_xref="GeneID:137970"
                     /db_xref="HGNC:HGNC:18634"
                     /db_xref="MIM:616466"
ORIGIN      
        1 mgraaatagg gggarrwlpw lglcfwaagt aaargtdnge alpesipsap gtlphfieep
       61 ddayiiksnp ialrckarpa mqiffkcnge wvhqnehvse etldessglk vrevfinvtr
      121 qqvedfhgpe dywcqcvaws hlgtsksrka svriaylrkn feqdpqgrev piegmivlhc
      181 rppegvpaae vewlkneepi dseqdenidt radhnliirq arlsdsgnyt cmaanivakr
      241 rslsatvvvy vdgswevwse wsvcspeceh lrirectapp prnggkfceg lsqesenctd
      301 glcilgiena sdialysglg aavvavavlv igvtlyrrsq sdygvdvids saltgnslll
      361 nsamqpdltv srtysgpicl qdpldkelmt esslfnplsd ikvkvqssfm vslgvserae
      421 yhgknhsrtf phgnnhsfst mhprnkmpyi qnlsslptrt elrttgvfgh lggrlvmpnt
      481 gvslliphga ipeensweiy msinqgepsl qsdgsevlls pevtcgppdm ivttpfalti
      541 phcadvsseh wnihlkkrtq qgkweevmsv edestscycl ldpfachvll dsfgtyaltg
      601 epitdcavkq lkvavfgcms cnsldynlrv ycvdntpcaf qevvsderhq ggqlleepkl
      661 lhfkgntfsl qisvldippf lwrikpftac qevpfsrvwc snrqplhcaf slerytpttt
      721 qlsckicirq lkgheqilqv qtsilesere titffaqeds tfpaqtgpka fkipysirqr
      781 icatfdtpna kgkdwqmlaq knsinrnlsy fatqsspsav ilnlwearhq hdgdldslac
      841 aleeigrtht klsnisesql deadfnysrq ngl
//
LOCUS       XP_054218723             701 aa            linear   PRI 20-MAR-2023
DEFINITION  mRNA export factor GLE1 isoform X2 [Homo sapiens].
ACCESSION   XP_054218723
VERSION     XP_054218723.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362748.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 5% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..701
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..701
                     /product="mRNA export factor GLE1 isoform X2"
                     /calculated_mol_wt=79427
     CDS             1..701
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /coded_by="XM_054362748.1:231..2336"
                     /db_xref="GeneID:2733"
                     /db_xref="HGNC:HGNC:4315"
                     /db_xref="MIM:603371"
ORIGIN      
        1 mpiiptlcea eagrvleass swepglvsht cnpstldvle ecmslpklss ysgwvvehvl
       61 phmqenqpls etspsstsas aldqpsfvpk spdassafsp aspatpngtk gkdesqhtes
      121 mvlqssrgik vegcvrmyel vhrmkgtegl rlwqeeqerk vqalsemase qlkrfdewke
      181 lkqhkefqdl revmekssre alghqeklka ehrhrakiln lklreaeqqr vkqaeqerlr
      241 keegqirlra lyalqeemlq lsqqldaseq hkallkvdla afqtrgnqlc slisgiiras
      301 sessyptaes qaeaeralre mrdllmnlgq eitracedkr rqdeeeaqvk lqeaqmqqgp
      361 eahkeppaps qgpggkqned lqvkvqditm qwyqqlqdas mqcvltfegl tnskdsqakk
      421 ikmdlqkaat ipvsqistia gsklkeifdk ihsllsgkpv qsggrsvsvt lnpqgldfvq
      481 yklaekfvkq geeevashhe aafpiavvas giwelhprvg dlilahlhkk cpysvpfypt
      541 fkegmaledy qrmlgyqvkd skveqqdnfl krmsgmirly aaiiqlrwpy gnrqeihphg
      601 lnhgwrwlaq ilnmeplsdv tatllfdfle vcgnalmkqy qvqfwkmlil ikedyfprie
      661 aitssgqmgs firlkqflek clqhkdipvp kgfltssfwr s
//
LOCUS       NP_001393767             496 aa            linear   PRI 24-MAR-2023
DEFINITION  potassium voltage-gated channel subfamily KQT member 1 isoform 5
            [Homo sapiens].
ACCESSION   NP_001393767
VERSION     NP_001393767.1
DBSOURCE    REFSEQ: accession NM_001406838.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 496)
  AUTHORS   Sieliwonczyk E, Alaerts M, Simons E, Snyders D, Nijak A,
            Vandendriessche B, Schepers D, Akdeniz D, Van Craenenbroeck E,
            Knaepen K, Rabaut L, Heidbuchel H, Van Laer L, Saenen J, Labro AJ
            and Loeys B.
  TITLE     Clinical and functional characterisation of a recurrent KCNQ1
            variant in the Belgian population
  JOURNAL   Orphanet J Rare Dis 18 (1), 23 (2023)
   PUBMED   36721196
  REMARK    GeneRIF: Clinical and functional characterisation of a recurrent
            KCNQ1 variant in the Belgian population.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 496)
  AUTHORS   Rinne S, Oertli A, Nagel C, Tomsits P, Jenewein T, Kaab S,
            Kauferstein S, Loewe A, Beckmann BM and Decher N.
  TITLE     Functional Characterization of a Spectrum of Novel Romano-Ward
            Syndrome KCNQ1 Variants
  JOURNAL   Int J Mol Sci 24 (2), 1350 (2023)
   PUBMED   36674868
  REMARK    GeneRIF: Functional Characterization of a Spectrum of Novel
            Romano-Ward Syndrome KCNQ1 Variants.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 496)
  AUTHORS   Ma D, Zhong L, Yan Z, Yao J, Zhang Y, Ye F, Huang Y, Lai D, Yang W,
            Hou P and Guo J.
  TITLE     Structural mechanisms for the activation of human cardiac KCNQ1
            channel by electro-mechanical coupling enhancers
  JOURNAL   Proc Natl Acad Sci U S A 119 (45), e2207067119 (2022)
   PUBMED   36763058
  REMARK    GeneRIF: Structural mechanisms for the activation of human cardiac
            KCNQ1 channel by electro-mechanical coupling enhancers.
REFERENCE   4  (residues 1 to 496)
  AUTHORS   Mohammad F, Mondal T and Kanduri C.
  TITLE     Epigenetics of imprinted long noncoding RNAs
  JOURNAL   Epigenetics 4 (5), 277-286 (2009)
   PUBMED   19617707
  REMARK    Review article
REFERENCE   5  (residues 1 to 496)
  AUTHORS   Lee MP, Hu RJ, Johnson LA and Feinberg AP.
  TITLE     Human KVLQT1 gene shows tissue-specific imprinting and encompasses
            Beckwith-Wiedemann syndrome chromosomal rearrangements
  JOURNAL   Nat Genet 15 (2), 181-185 (1997)
   PUBMED   9020845
  REMARK    GeneRIF: KCNQ1 gene is imprinted in a tissue-specific manner, with
            preferential expression from the maternal allele in some tissues,
            excluding cardiac muscle.
REFERENCE   6  (residues 1 to 496)
  AUTHORS   de Jager T, Corbett CH, Badenhorst JC, Brink PA and Corfield VA.
  TITLE     Evidence of a long QT founder gene with varying phenotypic
            expression in South African families
  JOURNAL   J Med Genet 33 (7), 567-573 (1996)
   PUBMED   8818942
REFERENCE   7  (residues 1 to 496)
  AUTHORS   Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ,
            Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA,
            Moss AJ, Atkinson DL, Landes GM, Connors TD and Keating MT.
  TITLE     Positional cloning of a novel potassium channel gene: KVLQT1
            mutations cause cardiac arrhythmias
  JOURNAL   Nat Genet 12 (1), 17-23 (1996)
   PUBMED   8528244
REFERENCE   8  (residues 1 to 496)
  AUTHORS   Tranebjaerg,L., Samson,R.A. and Green,G.E.
  TITLE     Jervell and Lange-Nielsen Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301579
REFERENCE   9  (residues 1 to 496)
  AUTHORS   Shuman,C., Beckwith,J.B. and Weksberg,R.
  TITLE     Beckwith-Wiedemann Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301568
REFERENCE   10 (residues 1 to 496)
  AUTHORS   Alders,M., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301308
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124057.12, AC124055.6,
            AC021424.6 and AC013791.9.
            
            Summary: This gene encodes a voltage-gated potassium channel
            required for repolarization phase of the cardiac action potential.
            This protein can form heteromultimers with two other potassium
            channel proteins, KCNE1 and KCNE3. Mutations in this gene are
            associated with hereditary long QT syndrome 1 (also known as
            Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and
            familial atrial fibrillation. This gene exhibits tissue-specific
            imprinting, with preferential expression from the maternal allele
            in some tissues, and biallelic expression in others. This gene is
            located in a region of chromosome 11 amongst other imprinted genes
            that are associated with Beckwith-Wiedemann syndrome (BWS), and
            itself has been shown to be disrupted by chromosomal rearrangements
            in patients with BWS. Alternatively spliced transcript variants
            have been found for this gene. [provided by RefSeq, Aug 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1587538.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161836, SAMEA2163459
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene :: PMID: 9020845, 19617707
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5-p15.4"
     Protein         1..496
                     /product="potassium voltage-gated channel subfamily KQT
                     member 1 isoform 5"
                     /note="kidney and cardiac voltage dependend K+ channel;
                     slow delayed rectifier channel subunit; voltage-gated
                     potassium channel subunit Kv7.1; potassium voltage-gated
                     channel, KQT-like subfamily, member 1; IKs producing slow
                     voltage-gated potassium channel subunit alpha KvLQT1;
                     potassium channel, voltage gated KQT-like subfamily Q,
                     member 1"
                     /calculated_mol_wt=54358
     Region          132..194
                     /region_name="Ion_trans_2"
                     /note="Ion channel; pfam07885"
                     /db_xref="CDD:429715"
     Region          <331..437
                     /region_name="KCNQ_channel"
                     /note="KCNQ voltage-gated potassium channel; pfam03520"
                     /db_xref="CDD:427346"
     CDS             1..496
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /coded_by="NM_001406838.1:92..1582"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:3784"
                     /db_xref="HGNC:HGNC:6294"
                     /db_xref="MIM:607542"
ORIGIN      
        1 maaassppra erkrwgwgrl pgarrgsagl akkcpfslel aeggpaggal yapiapgapg
       61 pappaspaap aappvasdlg prppvsldpr vsiystrrpv larthvqgrv ynflerptgw
      121 kcfvyhfavf livlvclifs vlstieqyaa latgtlfwmv tvttigygdk vpqtwvgkti
      181 ascfsvfais ffalpatawr cyaaenpdss twkiyirkap rshtllspsp kpkksvvvkk
      241 kkfkldkdng vtpgekmltv phitcdppee rrldhfsvdg ydssvrkspt llevsmphfm
      301 rtnsfaedld legetlltpi thisqlrehh ratikvirrm qyfvakkkfq qarkpydvrd
      361 vieqysqghl nlmvrikelq rrldqsigkp slfisvseks kdrgsntiga rlnrvedkvt
      421 qldqrlalit dmlhqllslh ggstpgsggp preggahitq pcgsggsvdp elflpsntlp
      481 tyeqltvprr gpdegs
//
LOCUS       NP_001012267             288 aa            linear   PRI 25-MAR-2023
DEFINITION  centromere protein P isoform a [Homo sapiens].
ACCESSION   NP_001012267 XP_376892
VERSION     NP_001012267.1
DBSOURCE    REFSEQ: accession NM_001012267.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 288)
  AUTHORS   Robles-Bolivar P, Bachinger D, Parra-Perez AM, Roman-Naranjo P,
            Escalera-Balsera A, Gallego-Martinez A, Eckhard AH and
            Lopez-Escamez JA.
  TITLE     A novel nonsense variant in the CENPP gene segregates in a Swiss
            family with autosomal dominant low-frequency sensorineural hearing
            loss
  JOURNAL   Eur J Hum Genet 30 (11), 1301-1305 (2022)
   PUBMED   36071244
  REMARK    GeneRIF: A novel nonsense variant in the CENPP gene segregates in a
            Swiss family with autosomal dominant low-frequency sensorineural
            hearing loss.
REFERENCE   2  (residues 1 to 288)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 288)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (residues 1 to 288)
  AUTHORS   Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA,
            Weisswange I, Mansfeld J, Buchholz F, Hyman AA and Mann M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   5  (residues 1 to 288)
  AUTHORS   Eskat A, Deng W, Hofmeister A, Rudolphi S, Emmerth S, Hellwig D,
            Ulbricht T, Doring V, Bancroft JM, McAinsh AD, Cardoso MC, Meraldi
            P, Hoischen C, Leonhardt H and Diekmann S.
  TITLE     Step-wise assembly, maturation and dynamic behavior of the human
            CENP-P/O/R/Q/U kinetochore sub-complex
  JOURNAL   PLoS One 7 (9), e44717 (2012)
   PUBMED   23028590
  REMARK    GeneRIF: Data propose that CENP-P/O/R/Q/U self-assembles on
            kinetochores with varying stoichiometry and undergoes a pre-mitotic
            maturation step that could be important for kinetochores switching
            into the correct conformation for microtubule-attachment.
REFERENCE   6  (residues 1 to 288)
  AUTHORS   Okada M, Cheeseman IM, Hori T, Okawa K, McLeod IX, Yates JR 3rd,
            Desai A and Fukagawa T.
  TITLE     The CENP-H-I complex is required for the efficient incorporation of
            newly synthesized CENP-A into centromeres
  JOURNAL   Nat Cell Biol 8 (5), 446-457 (2006)
   PUBMED   16622420
REFERENCE   7  (residues 1 to 288)
  AUTHORS   Foltz DR, Jansen LE, Black BE, Bailey AO, Yates JR 3rd and
            Cleveland DW.
  TITLE     The human CENP-A centromeric nucleosome-associated complex
  JOURNAL   Nat Cell Biol 8 (5), 458-469 (2006)
   PUBMED   16622419
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC071726.1, AL833701.1 and AL157827.17.
            On Feb 15, 2005 this sequence version replaced XP_376892.1.
            
            Summary: CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM
            300065)-associated centromeric complex that targets CENPA (MIM
            117139) to centromeres and is required for proper kinetochore
            function and mitotic progression (Okada et al., 2006 [PubMed
            16622420]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.4816.1, SRR1660807.9119.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375587.8/ ENSP00000364737.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..288
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.31"
     Protein         1..288
                     /product="centromere protein P isoform a"
                     /calculated_mol_wt=33034
     Site            38
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6IPU0.1)"
     Region          103..279
                     /region_name="CENP-P"
                     /note="CENP-A-nucleosome distal (CAD) centromere subunit,
                     CENP-P; pfam13096"
                     /db_xref="CDD:289841"
     CDS             1..288
                     /gene="CENPP"
                     /gene_synonym="CENP-P"
                     /coded_by="NM_001012267.3:47..913"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS35063.1"
                     /db_xref="GeneID:401541"
                     /db_xref="HGNC:HGNC:32933"
                     /db_xref="MIM:611505"
ORIGIN      
        1 mdaelaevra lqaeiaalrr acedppapwe eksrvqksfq aihqfnlegw ksskdlknql
       61 ghleselsfl stltginirn hskqtedlts temteksirk vlqrhrlsgn chmvtfqlef
      121 qileiqnker lssavtdlni imeptecsel sefvsraeer kdlfmffrsl hffvewfeyr
      181 krtfkhlkek ypdavylseg psscsmgirs asrpgfelvi vwriqidedg kvfpkldllt
      241 kvpqraleld knraietapl sfrtlvgllg ieaaleslik slcaeenn
//
LOCUS       NP_001365274             384 aa            linear   PRI 26-MAR-2023
DEFINITION  protein NDRG4 isoform 20 [Homo sapiens].
ACCESSION   NP_001365274 XP_006721323
VERSION     NP_001365274.1
DBSOURCE    REFSEQ: accession NM_001378345.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 384)
  AUTHORS   Zuo H, Liu S, Li X and Hou G.
  TITLE     miR-23a-3p promotes the development of colon cancer by inhibiting
            the expression of NDRG4
  JOURNAL   Clin Transl Oncol 25 (4), 933-940 (2023)
   PUBMED   36374403
  REMARK    GeneRIF: miR-23a-3p promotes the development of colon cancer by
            inhibiting the expression of NDRG4.
REFERENCE   2  (residues 1 to 384)
  AUTHORS   Yang Z, Cheng H, Zhang Y and Zhou Y.
  TITLE     Errate: Identification of NDRG Family Member 4 (NDRG4) and CDC28
            Protein Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic Genes
            in Adrenocortical Carcinoma by Transcriptomic Analysis
  JOURNAL   Med Sci Monit 28, e937786 (2022)
   PUBMED   35899496
  REMARK    GeneRIF: Errate: Identification of NDRG Family Member 4 (NDRG4) and
            CDC28 Protein Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic
            Genes in Adrenocortical Carcinoma by Transcriptomic Analysis.
            Correction to:[Med Sci Monit. 2021 Mar 05;27:e928523. PMID:
            33667214]
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 384)
  AUTHORS   Ji X, Sha J, Qian H, Zhang G, He T and Dang Y.
  TITLE     Highly sensitive fecal DNA testing of NDRG4 12b methylation is a
            promising marker for detection of colorectal precancerosis
  JOURNAL   J BUON 26 (4), 1239-1245 (2021)
   PUBMED   34564976
  REMARK    GeneRIF: Highly sensitive fecal DNA testing of NDRG4 12b
            methylation is a promising marker for detection of colorectal
            precancerosis.
REFERENCE   4  (residues 1 to 384)
  AUTHORS   Vaes N, Schonkeren SL, Rademakers G, Holland AM, Koch A, Gijbels
            MJ, Keulers TG, de Wit M, Moonen L, Van der Meer JRM, van den
            Boezem E, Wolfs TGAM, Threadgill DW, Demmers J, Fijneman RJA,
            Jimenez CR, Vanden Berghe P, Smits KM, Rouschop KMA, Boesmans W,
            Hofstra RMW and Melotte V.
  TITLE     Loss of enteric neuronal Ndrg4 promotes colorectal cancer via
            increased release of Nid1 and Fbln2
  JOURNAL   EMBO Rep 22 (6), e51913 (2021)
   PUBMED   33890711
  REMARK    GeneRIF: Loss of enteric neuronal Ndrg4 promotes colorectal cancer
            via increased release of Nid1 and Fbln2.
REFERENCE   5  (residues 1 to 384)
  AUTHORS   Yang Z, Cheng H, Zhang Y and Zhou Y.
  TITLE     Identification of NDRG Family Member 4 (NDRG4) and CDC28 Protein
            Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic Genes in
            Adrenocortical Carcinoma by Transcriptomic Analysis
  JOURNAL   Med Sci Monit 27, e928523 (2021)
   PUBMED   33667214
  REMARK    GeneRIF: Identification of NDRG Family Member 4 (NDRG4) and CDC28
            Protein Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic Genes
            in Adrenocortical Carcinoma by Transcriptomic Analysis.
            Erratum:[Med Sci Monit. 2022 Jul 28;28:e937786. PMID: 35899496]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 384)
  AUTHORS   Hongo S, Watanabe T, Takahashi K and Miyazaki A.
  TITLE     Ndrg4 enhances NGF-induced ERK activation uncoupled with Elk-1
            activation
  JOURNAL   J Cell Biochem 98 (1), 185-193 (2006)
   PUBMED   16408304
  REMARK    GeneRIF: NDRG4 overexpression enhances ERK activation
REFERENCE   7  (residues 1 to 384)
  AUTHORS   Nishimoto S, Tawara J, Toyoda H, Kitamura K and Komurasaki T.
  TITLE     A novel homocysteine-responsive gene, smap8, modulates mitogenesis
            in rat vascular smooth muscle cells
  JOURNAL   Eur J Biochem 270 (11), 2521-2531 (2003)
   PUBMED   12755708
  REMARK    GeneRIF: smap8 is involved in the regulation of mitogenic
            signalling in vascular smooth muscle cells, possibly in response to
            a homocysteine-induced injury [SMAP8]
REFERENCE   8  (residues 1 to 384)
  AUTHORS   Ohki T, Hongo S, Nakada N, Maeda A and Takeda M.
  TITLE     Inhibition of neurite outgrowth by reduced level of NDRG4 protein
            in antisense transfected PC12 cells
  JOURNAL   Brain Res Dev Brain Res 135 (1-2), 55-63 (2002)
   PUBMED   11978393
REFERENCE   9  (residues 1 to 384)
  AUTHORS   Qu X, Zhai Y, Wei H, Zhang C, Xing G, Yu Y and He F.
  TITLE     Characterization and expression of three novel
            differentiation-related genes belong to the human NDRG gene family
  JOURNAL   Mol Cell Biochem 229 (1-2), 35-44 (2002)
   PUBMED   11936845
  REMARK    GeneRIF: Cloning and expression of the gene; specifically expressed
            in brain and heart
REFERENCE   10 (residues 1 to 384)
  AUTHORS   Zhou RH, Kokame K, Tsukamoto Y, Yutani C, Kato H and Miyata T.
  TITLE     Characterization of the human NDRG gene family: a newly identified
            member, NDRG4, is specifically expressed in brain and heart
  JOURNAL   Genomics 73 (1), 86-97 (2001)
   PUBMED   11352569
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009118.11 and KF456201.1.
            On Feb 7, 2020 this sequence version replaced XP_006721323.1.
            
            Summary: This gene is a member of the N-myc downregulated gene
            family which belongs to the alpha/beta hydrolase superfamily. The
            protein encoded by this gene is a cytoplasmic protein that is
            required for cell cycle progression and survival in primary
            astrocytes and may be involved in the regulation of mitogenic
            signalling in vascular smooth muscles cells. Alternative splicing
            results in multiple transcripts encoding different
            isoforms.[provided by RefSeq, Jun 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.50902.1,
                                           SRR1803613.151977.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q21"
     Protein         1..384
                     /product="protein NDRG4 isoform 20"
                     /note="smooth muscle-associated protein 8; protein NDRG4;
                     brain development-related molecule 1; vascular smooth
                     muscle cell-associated protein 8; N-myc
                     downstream-regulated gene 4 protein"
                     /calculated_mol_wt=41884
     Region          40..322
                     /region_name="Ndr"
                     /note="Ndr family; pfam03096"
                     /db_xref="CDD:397285"
     CDS             1..384
                     /gene="NDRG4"
                     /gene_synonym="BDM1; SMAP-8; SMAP8"
                     /coded_by="NM_001378345.1:107..1261"
                     /note="isoform 20 is encoded by transcript variant 23"
                     /db_xref="GeneID:65009"
                     /db_xref="HGNC:HGNC:14466"
                     /db_xref="MIM:614463"
ORIGIN      
        1 maglqelrfp eekpllrgqd atelessdaf llaadtdwke hdietpygll hvvirgspkg
       61 nrpailtyhd vglnhklcfn tffnfedmqe itkhfvvchv dapgqqvgas qfpqgyqfps
      121 meqlaamlps vvqhfgfkyv igigvgagay vlakfalifp dlveglvlvn idpngkgwid
      181 waatklsglt stlpdtvlsh lfsqeelvnn telvqsyrqq ignvvnqanl qlfwnmynsr
      241 rdldinrpgt vpnaktlrcp vmlvvgdnap aedgvvecns kldpttttfl kmadsgglpq
      301 vtqpgkltea fkyflqgmgy iaylkdrrls ggavpsasmt rlarsrtasl tsassvdgsr
      361 pqacthsess eglgqvnhtm evsc
//
LOCUS       NP_001001998             885 aa            linear   PRI 05-APR-2023
DEFINITION  exosome component 10 isoform 1 [Homo sapiens].
ACCESSION   NP_001001998
VERSION     NP_001001998.1
DBSOURCE    REFSEQ: accession NM_001001998.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 885)
  AUTHORS   Fujiwara N, Shigemoto M, Hirayama M, Fujita KI, Seno S, Matsuda H,
            Nagahama M and Masuda S.
  TITLE     MPP6 stimulates both RRP6 and DIS3 to degrade a specified subset of
            MTR4-sensitive substrates in the human nucleus
  JOURNAL   Nucleic Acids Res 50 (15), 8779-8806 (2022)
   PUBMED   35902094
  REMARK    GeneRIF: MPP6 stimulates both RRP6 and DIS3 to degrade a specified
            subset of MTR4-sensitive substrates in the human nucleus.
REFERENCE   2  (residues 1 to 885)
  AUTHORS   Lazzaroni MG, Marasco E, Campochiaro C, DeVries-Bouwstra J,
            Gonzalez-Perez MI, Rojas-Serrano J, Hachulla E, Zanatta E, Barsotti
            S, Furini F, Triantafyllias K, Abignano G, Truchetet ME, De Luca G,
            De Langhe E, Hesselstrand R, Ingegnoli F, Bertoldo E, Smith V,
            Bellando-Randone S, Poormoghim H, Colombo E, Ceribelli A, Furloni
            A, Zingarelli S, Cavazzana I, Franceschini F, Del Galdo F, Denton
            CP, Cavagna L, Distler O, Allanore Y and Airo P.
  CONSRTM   EUSTAR co-authors
  TITLE     The clinical phenotype of systemic sclerosis patients with
            anti-PM/Scl antibodies: results from the EUSTAR cohort
  JOURNAL   Rheumatology (Oxford) 60 (11), 5028-5041 (2021)
   PUBMED   33580257
  REMARK    GeneRIF: The clinical phenotype of systemic sclerosis patients with
            anti-PM/Scl antibodies: results from the EUSTAR cohort.
REFERENCE   3  (residues 1 to 885)
  AUTHORS   Mehta C, Fraga de Andrade I, Matson DR, Dewey CN and Bresnick EH.
  TITLE     RNA-regulatory exosome complex confers cellular survival to promote
            erythropoiesis
  JOURNAL   Nucleic Acids Res 49 (16), 9007-9025 (2021)
   PUBMED   34059908
  REMARK    GeneRIF: RNA-regulatory exosome complex confers cellular survival
            to promote erythropoiesis.
REFERENCE   4  (residues 1 to 885)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   5  (residues 1 to 885)
  AUTHORS   Sun X, Kawata K, Miki A, Wada Y, Nagahama M, Takaya A and Akimitsu
            N.
  TITLE     Exploration of Salmonella effector mutant strains on MTR4 and RRP6
            degradation
  JOURNAL   Biosci Trends 14 (4), 255-262 (2020)
   PUBMED   32350160
  REMARK    GeneRIF: Exploration of Salmonella effector mutant strains on MTR4
            and RRP6 degradation.
REFERENCE   6  (residues 1 to 885)
  AUTHORS   Stover C, Endo Y, Takahashi M, Lynch NJ, Constantinescu C,
            Vorup-Jensen T, Thiel S, Friedl H, Hankeln T, Hall R, Gregory S,
            Fujita T and Schwaeble W.
  TITLE     The human gene for mannan-binding lectin-associated serine
            protease-2 (MASP-2), the effector component of the lectin route of
            complement activation, is part of a tightly linked gene cluster on
            chromosome 1p36.2-3
  JOURNAL   Genes Immun 2 (3), 119-127 (2001)
   PUBMED   11426320
REFERENCE   7  (residues 1 to 885)
  AUTHORS   Brouwer R, Allmang C, Raijmakers R, van Aarssen Y, Egberts WV,
            Petfalski E, van Venrooij WJ, Tollervey D and Pruijn GJ.
  TITLE     Three novel components of the human exosome
  JOURNAL   J Biol Chem 276 (9), 6177-6184 (2001)
   PUBMED   11110791
REFERENCE   8  (residues 1 to 885)
  AUTHORS   Allmang C, Petfalski E, Podtelejnikov A, Mann M, Tollervey D and
            Mitchell P.
  TITLE     The yeast exosome and human PM-Scl are related complexes of 3' -->
            5' exonucleases
  JOURNAL   Genes Dev 13 (16), 2148-2158 (1999)
   PUBMED   10465791
REFERENCE   9  (residues 1 to 885)
  AUTHORS   Bluthner M and Bautz FA.
  TITLE     Cloning and characterization of the cDNA coding for a
            polymyositis-scleroderma overlap syndrome-related nucleolar 100-kD
            protein
  JOURNAL   J Exp Med 176 (4), 973-980 (1992)
   PUBMED   1383382
REFERENCE   10 (residues 1 to 885)
  AUTHORS   Ge Q, Frank MB, O'Brien C and Targoff IN.
  TITLE     Cloning of a complementary DNA coding for the 100-kD antigenic
            protein of the PM-Scl autoantigen
  JOURNAL   J Clin Invest 90 (2), 559-570 (1992)
   PUBMED   1644924
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC073788.1, BC028687.1 and CA307576.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC028687.1, BC073788.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376936.9/ ENSP00000366135.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..885
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     Protein         1..885
                     /product="exosome component 10 isoform 1"
                     /note="autoantigen PM-SCL; polymyositis/scleroderma
                     autoantigen 100 kDa; P100 polymyositis-scleroderma overlap
                     syndrome-associated autoantigen; polymyositis/scleroderma
                     autoantigen 2"
                     /calculated_mol_wt=100701
     Region          44..133
                     /region_name="PMC2NT"
                     /note="PMC2NT (NUC016) domain; pfam08066"
                     /db_xref="CDD:429812"
     Region          284..474
                     /region_name="Rrp6p_like_exo"
                     /note="DEDDy 3'-5' exonuclease domain of yeast Rrp6p,
                     human polymyositis/scleroderma autoantigen 100kDa, and
                     similar proteins; cd06147"
                     /db_xref="CDD:99850"
     Site            order(313..316,366..367,369..371,402..403,436,440)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:99850"
     Site            order(313,315,371,436,440)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:99850"
     Site            order(314..316,366..367,369..370,402..403,436,440)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:99850"
     Region          503..583
                     /region_name="HRDC"
                     /note="Helicase and RNase D C-terminal; smart00341"
                     /db_xref="CDD:128635"
     Region          776..885
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01780.2)"
     Site            821
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q01780.2)"
     CDS             1..885
                     /gene="EXOSC10"
                     /gene_synonym="p2; p3; p4; PM-Scl; PM/Scl-100; PMSCL;
                     PMSCL2; RRP6; Rrp6p"
                     /coded_by="NM_001001998.3:39..2696"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS30584.1"
                     /db_xref="GeneID:5394"
                     /db_xref="HGNC:HGNC:9138"
                     /db_xref="MIM:605960"
ORIGIN      
        1 mappstrepr vlsatsatks dgemvlpgfp dadsfvkfal gsvvavtkas gglpqfgdey
       61 dfyrsfpgfq afcetqgdrl lqcmsrvmqy hgcrsnikdr skvteledkf dllvdandvi
      121 lervgillde asgvnknqqp vlpaglqvpk tvvsswnrka aeygkkakse tfrllhakni
      181 irpqlkfrek idnsntpflp kifikpnaqk plpqalsker rerpqdrped ldvppaladf
      241 ihqqrtqqve qdmfahpyqy elnhftpada vlqkpqpqly rpieetpchf issldelvel
      301 nekllncqef avdlehhsyr sflgltclmq istrtedfii dtlelrsdmy ilnesltdpa
      361 ivkvfhgads diewlqkdfg lyvvnmfdth qaarllnlgr hsldhllkly cnvdsnkqyq
      421 ladwrirplp eemlsyardd thyllyiydk mrlemwergn gqpvqlqvvw qrsrdiclkk
      481 fikpiftdes ylelyrkqkk hlntqqltaf qllfawrdkt arredesygy vlpnhmmlki
      541 aeelpkepqg iiaccnpvpp lvrqqinemh lliqqaremp llksevaagv kksgplpsae
      601 rlenvlfgph dcshappdgy piiptsgsvp vqkqaslfpd ekednllgtt cliatavitl
      661 fnepsaedsk kgpltvaqkk aqnimesfen pfrmflpslg hrapvsqaak fdpstkiyei
      721 snrwklaqvq vqkdskeavk kkaaeqtaar eqakeackaa aeqaisvrqq vvlenaakkr
      781 eratsdprtt eqkqekkrlk iskkpkdpep pekeftpydy sqsdfkafag nskskvssqf
      841 dpnkqtpsgk kciaakkikq svgnksmsfp tgksdrgfry nwpqr
//
LOCUS       NP_699191                501 aa            linear   PRI 18-DEC-2022
DEFINITION  protein APCDD1-like isoform 1 precursor [Homo sapiens].
ACCESSION   NP_699191
VERSION     NP_699191.1
DBSOURCE    REFSEQ: accession NM_153360.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 501)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 501)
  AUTHORS   Jukkola T, Sinjushina N and Partanen J.
  TITLE     Drapc1 expression during mouse embryonic development
  JOURNAL   Gene Expr Patterns 4 (6), 755-762 (2004)
   PUBMED   15465500
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL118513.17, DA665037.1, AK074647.1 and BQ018966.1.
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074647.1, BC101758.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151887, SAMEA2162328
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371149.8/ ENSP00000360191.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..501
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.32"
     Protein         1..501
                     /product="protein APCDD1-like isoform 1 precursor"
                     /note="protein APCDD1-like; adenomatosis polyposis coli
                     down-regulated 1 like"
                     /calculated_mol_wt=53314
     sig_peptide     1..24
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2339
     Region          37..263
                     /region_name="APCDDC"
                     /note="Adenomatosis polyposis coli down-regulated 1;
                     pfam14921"
                     /db_xref="CDD:434316"
     Site            150
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NCL9.1)"
     Region          282..454
                     /region_name="APCDDC"
                     /note="Adenomatosis polyposis coli down-regulated 1;
                     pfam14921"
                     /db_xref="CDD:434316"
     Site            481..501
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCL9.1)"
     CDS             1..501
                     /gene="APCDD1L"
                     /coded_by="NM_153360.3:693..2198"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS13467.1"
                     /db_xref="GeneID:164284"
                     /db_xref="HGNC:HGNC:26892"
ORIGIN      
        1 mpaamlpyac vlvllgahta paageaggsc lrwephcqqp lpdrvpstai lpprlngpwi
       61 stgcevrpgp efltraytfy psrlfrahqf yyedpfcgep ahsllvkgkv rlrraswvtr
      121 gateadyhlh kvgivfhsrr alvdvtgrln qtragrdcar rlpparawlp galyelrsar
      181 aqgdclealg ltmhelslvr vqrrlqpqpr asprlveely lgdihtdpae rrhyrptgyq
      241 rplqsalhhv qpcpacglia rsdvhhppvl ppplalplhl ggwwvssgce vrpavlfltr
      301 lftfhghsrs wegyyhhfsd pacrqptftv yaagrytrgt pstrvrggte lvfevtrahv
      361 tpmdqvttam lnfsepsscg gagawsmgte rdvtatngcl plgirlphve yelfkmeqdp
      421 lgqsllfigq rptdgsspdt pekrptsyqa plvlchgeap dfsrppqhrp slqkhpstgg
      481 lhiapfpllp lvlglaflhw l
//
LOCUS       NP_001243481             476 aa            linear   PRI 18-DEC-2022
DEFINITION  endonuclease 8-like 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001243481
VERSION     NP_001243481.1
DBSOURCE    REFSEQ: accession NM_001256552.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 476)
  AUTHORS   Lotsof ER, Krajewski AE, Anderson-Steele B, Rogers J, Zhang L, Yeo
            J, Conlon SG, Manlove AH, Lee JK and David SS.
  TITLE     NEIL1 Recoding due to RNA Editing Impacts Lesion-Specific
            Recognition and Excision
  JOURNAL   J Am Chem Soc 144 (32), 14578-14589 (2022)
   PUBMED   35917336
  REMARK    GeneRIF: NEIL1 Recoding due to RNA Editing Impacts Lesion-Specific
            Recognition and Excision.
REFERENCE   2  (residues 1 to 476)
  AUTHORS   Teoh PJ, An O, Chung TH, Vaiyapuri T, Raju A, Hoppe MM, Toh SHM,
            Wang W, Chan MC, Fullwood MJ, Jeyasekharan AD, Tergaonkar V, Chen
            L, Yang H and Chng WJ.
  TITLE     p53-NEIL1 co-abnormalities induce genomic instability and promote
            synthetic lethality with Chk1 inhibition in multiple myeloma having
            concomitant 17p13(del) and 1q21(gain)
  JOURNAL   Oncogene 41 (14), 2106-2121 (2022)
   PUBMED   35190641
  REMARK    GeneRIF: p53-NEIL1 co-abnormalities induce genomic instability and
            promote synthetic lethality with Chk1 inhibition in multiple
            myeloma having concomitant 17p13(del) and 1q21(gain).
REFERENCE   3  (residues 1 to 476)
  AUTHORS   Liu M, Zhang J, Zhu C, Zhang X, Xiao W, Yan Y, Liu L, Zeng H, Gao
            YQ and Yi C.
  TITLE     DNA repair glycosylase hNEIL1 triages damaged bases via competing
            interaction modes
  JOURNAL   Nat Commun 12 (1), 4108 (2021)
   PUBMED   34226550
  REMARK    GeneRIF: DNA repair glycosylase hNEIL1 triages damaged bases via
            competing interaction modes.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 476)
  AUTHORS   Zheng Y, Zheng L, Yu J, Jiang M, Zhang S, Cai X and Zhu M.
  TITLE     Genetic variations in DNA repair gene NEIL1 associated with
            radiation pneumonitis risk in lung cancer patients
  JOURNAL   Mol Genet Genomic Med 9 (7), e1698 (2021)
   PUBMED   34105905
  REMARK    GeneRIF: Genetic variations in DNA repair gene NEIL1 associated
            with radiation pneumonitis risk in lung cancer patients.
REFERENCE   5  (residues 1 to 476)
  AUTHORS   Yeo J, Lotsof ER, Anderson-Steele BM and David SS.
  TITLE     RNA Editing of the Human DNA Glycosylase NEIL1 Alters Its Removal
            of 5-Hydroxyuracil Lesions in DNA
  JOURNAL   Biochemistry 60 (19), 1485-1497 (2021)
   PUBMED   33929180
  REMARK    GeneRIF: RNA Editing of the Human DNA Glycosylase NEIL1 Alters Its
            Removal of 5-Hydroxyuracil Lesions in DNA.
REFERENCE   6  (residues 1 to 476)
  AUTHORS   Dou H, Mitra S and Hazra TK.
  TITLE     Repair of oxidized bases in DNA bubble structures by human DNA
            glycosylases NEIL1 and NEIL2
  JOURNAL   J Biol Chem 278 (50), 49679-49684 (2003)
   PUBMED   14522990
  REMARK    GeneRIF: NEIL1 and NEIL2 are preferentially involved in repair of
            lesions in DNA bubbles generated during transcription and/or
            replication
REFERENCE   7  (residues 1 to 476)
  AUTHORS   Morland I, Rolseth V, Luna L, Rognes T, Bjoras M and Seeberg E.
  TITLE     Human DNA glycosylases of the bacterial Fpg/MutM superfamily: an
            alternative pathway for the repair of 8-oxoguanine and other
            oxidation products in DNA
  JOURNAL   Nucleic Acids Res 30 (22), 4926-4936 (2002)
   PUBMED   12433996
  REMARK    GeneRIF: hFPG1 and hFPG2 repair 8-oxoguanine and other DNA
            oxidation products. (hFPG1 and hFPG2)
REFERENCE   8  (residues 1 to 476)
  AUTHORS   Takao M, Kanno S, Kobayashi K, Zhang QM, Yonei S, van der Horst GT
            and Yasui A.
  TITLE     A back-up glycosylase in Nth1 knock-out mice is a functional Nei
            (endonuclease VIII) homologue
  JOURNAL   J Biol Chem 277 (44), 42205-42213 (2002)
   PUBMED   12200441
REFERENCE   9  (residues 1 to 476)
  AUTHORS   Bandaru V, Sunkara S, Wallace SS and Bond JP.
  TITLE     A novel human DNA glycosylase that removes oxidative DNA damage and
            is homologous to Escherichia coli endonuclease VIII
  JOURNAL   DNA Repair (Amst) 1 (7), 517-529 (2002)
   PUBMED   12509226
  REMARK    GeneRIF: Pyrimidine dimer repair enzyme located on the long arm of
            chromosome 15 that is frequently deleted in human cancers.
REFERENCE   10 (residues 1 to 476)
  AUTHORS   Hazra TK, Izumi T, Boldogh I, Imhoff B, Kow YW, Jaruga P,
            Dizdaroglu M and Mitra S.
  TITLE     Identification and characterization of a human DNA glycosylase for
            repair of modified bases in oxidatively damaged DNA
  JOURNAL   Proc Natl Acad Sci U S A 99 (6), 3523-3528 (2002)
   PUBMED   11904416
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC068338.14 and BC010876.1.
            
            Summary: This gene is a member of the Nei endonuclease VIII-like
            gene family which encodes DNA glycosylases. The encoded enzyme
            participates in the DNA repair pathway by initiating base excision
            repair by removing damaged bases, primarily oxidized pyrimidines.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Feb 2012].
            
            Transcript Variant: This variant (1) encodes the longer protein
            (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC010876.1, SRR1660803.133721.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..476
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.2"
     Protein         1..476
                     /product="endonuclease 8-like 1 isoform 1"
                     /EC_number="4.2.99.18"
                     /note="endonuclease 8-like 1; endonuclease VIII-like 1;
                     NEH1; nei endonuclease VIII-like 1; DNA endonuclease
                     eight-like glycosylase 1; nei homolog 1; nei-like protein
                     1; DNA glycosylase/AP lyase Neil1; DNA-(apurinic or
                     apyrimidinic site) lyase Neil1"
                     /calculated_mol_wt=52827
     Region          87..213
                     /region_name="MeNeil1_N"
                     /note="N-terminal domain of metazoan Nei-like glycosylase
                     1 (NEIL1); cd08967"
                     /db_xref="CDD:176801"
     Site            order(88..89,140,164,166..168,181..182)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:176801"
     Site            88
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:176801"
     Site            order(89..91,94,138..141)
                     /site_type="other"
                     /note="H2TH interface [polypeptide binding]"
                     /db_xref="CDD:176801"
     Site            order(89,140)
                     /site_type="active"
                     /note="putative catalytic residues [active]"
                     /db_xref="CDD:176801"
     Site            order(167,204,206)
                     /site_type="other"
                     /note="putative intercalation triad [nucleotide binding]"
                     /db_xref="CDD:176801"
     Region          <220..>280
                     /region_name="PRK10445"
                     /note="endonuclease VIII; Provisional"
                     /db_xref="CDD:182467"
     Region          338..376
                     /region_name="Neil1-DNA_bind"
                     /note="Endonuclease VIII-like 1, DNA bind; pfam09292"
                     /db_xref="CDD:430507"
     CDS             1..476
                     /gene="NEIL1"
                     /gene_synonym="FPG1; hFPG1; NEI1"
                     /coded_by="NM_001256552.1:173..1603"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="GeneID:79661"
                     /db_xref="HGNC:HGNC:18448"
                     /db_xref="MIM:608844"
ORIGIN      
        1 mgrtgprapl lpktriwslt fsrktspvga rpgaaprcgg gkvrasavak cplplkahlr
       61 lrfrtargqr qvakqggrrt lppslrmpeg pelhlasqfv neacralvfg gcvekssvsr
      121 npevpfessa yrisasargk elrlilsplp gaqpqqepla lvfrfgmsgs fqlvpreelp
      181 rhahlrfyta ppgprlalcf vdirrfgrwd lggkwqpgrg pcvlqeyqqf renvlrnlad
      241 kafdrpicea lldqrffngi gnylraeily rlkippfeka rsvlealqqh rpspeltlsq
      301 kirtklqnpd llelchsvpk evvqlggkgy gsesgeedfa afrawlrcyg mpgmsslqdr
      361 hgrtiwfqgd pgplapkgrk srkkkskatq lspedrveda lppskapsrt rrakrdlpkr
      421 tatqrpegts lqqdpeaptv pkkgrrkgrq aasghcrprk vkadipslep egtsas
//
LOCUS       NP_115682                221 aa            linear   PRI 24-DEC-2022
DEFINITION  alpha-ketoglutarate-dependent dioxygenase alkB homolog 7,
            mitochondrial precursor [Homo sapiens].
ACCESSION   NP_115682
VERSION     NP_115682.1
DBSOURCE    REFSEQ: accession NM_032306.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 221)
  AUTHORS   Zhang LS, Xiong QP, Pena Perez S, Liu C, Wei J, Le C, Zhang L,
            Harada BT, Dai Q, Feng X, Hao Z, Wang Y, Dong X, Hu L, Wang ED, Pan
            T, Klungland A, Liu RJ and He C.
  TITLE     ALKBH7-mediated demethylation regulates mitochondrial polycistronic
            RNA processing
  JOURNAL   Nat Cell Biol 23 (7), 684-691 (2021)
   PUBMED   34253897
  REMARK    GeneRIF: ALKBH7-mediated demethylation regulates mitochondrial
            polycistronic RNA processing.
REFERENCE   2  (residues 1 to 221)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 221)
  AUTHORS   Walker AR, Silvestrov P, Muller TA, Podolsky RH, Dyson G, Hausinger
            RP and Cisneros GA.
  TITLE     ALKBH7 Variant Related to Prostate Cancer Exhibits Altered
            Substrate Binding
  JOURNAL   PLoS Comput Biol 13 (2), e1005345 (2017)
   PUBMED   28231280
  REMARK    GeneRIF: Our results uncovered a SNP of ALKBH7, rs7540, which is
            associated with prostate cancer disease in a statistically
            significantly manner in two separate cohorts, and maintained in
            African American men.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 221)
  AUTHORS   Wang G, He Q, Feng C, Liu Y, Deng Z, Qi X, Wu W, Mei P and Chen Z.
  TITLE     The atomic resolution structure of human AlkB homolog 7 (ALKBH7), a
            key protein for programmed necrosis and fat metabolism
  JOURNAL   J Biol Chem 289 (40), 27924-27936 (2014)
   PUBMED   25122757
  REMARK    GeneRIF: ALKBH7 possesses the conserved double-stranded beta-helix
            fold that coordinates a catalytically active iron by a conserved
            HX(D/E) em leader Xn em leader H motif.
REFERENCE   5  (residues 1 to 221)
  AUTHORS   Fu D, Jordan JJ and Samson LD.
  TITLE     Human ALKBH7 is required for alkylation and oxidation-induced
            programmed necrosis
  JOURNAL   Genes Dev 27 (10), 1089-1100 (2013)
   PUBMED   23666923
  REMARK    GeneRIF: novel role for a AlkB homolog, human ALKBH7, in programmed
            necrosis, presenting a new target for therapeutic intervention in
            cancer cells that are resistant to apoptotic cell death
REFERENCE   6  (residues 1 to 221)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY358858.1 and BM271861.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.715487.1,
                                           SRR1163655.40748.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000245812.8/ ENSP00000245812.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..221
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..221
                     /product="alpha-ketoglutarate-dependent dioxygenase alkB
                     homolog 7, mitochondrial precursor"
                     /note="spermatogenesis associated 11; alkylated DNA repair
                     protein alkB homolog 7; alpha-ketoglutarate-dependent
                     dioxygenase alkB homolog 7, mitochondrial; probable
                     alpha-ketoglutarate-dependent dioxygenase ABH7;
                     spermatogenesis cell proliferation related protein;
                     spermatogenesis-associated protein 11; alkB, alkylation
                     repair homolog 7"
                     /calculated_mol_wt=22481
     transit_peptide 1..20
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (Q9BT30.1)"
                     /calculated_mol_wt=2053
     Region          28..200
                     /region_name="AlkB"
                     /note="Alkylated DNA repair dioxygenase AlkB [Replication,
                     recombination and repair]; COG3145"
                     /db_xref="CDD:225687"
     CDS             1..221
                     /gene="ALKBH7"
                     /gene_synonym="ABH7; SPATA11; UNQ6002"
                     /coded_by="NM_032306.4:28..693"
                     /db_xref="CCDS:CCDS12163.1"
                     /db_xref="GeneID:84266"
                     /db_xref="HGNC:HGNC:21306"
                     /db_xref="MIM:613305"
ORIGIN      
        1 magtgllalr tlpgpswvrg sgpsvlsrlq daavvrpgfl staeeetlsr elepelrrrr
       61 yeydhwdaai hgfreteksr wseasrailq rvqaaafgpg qtllssvhvl dleargyikp
      121 hvdsikfcga tiaglsllsp svmrlvhtqe pgewlellle pgslyilrgs arydfsheil
      181 rdeesffger riprgrrisv icrslpegmg pgesgqpppa c
//
LOCUS       NP_996776                267 aa            linear   PRI 25-DEC-2022
DEFINITION  membrane-spanning 4-domains subfamily A member 10 [Homo sapiens].
ACCESSION   NP_996776 XP_291890
VERSION     NP_996776.2
DBSOURCE    REFSEQ: accession NM_206893.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 267)
  AUTHORS   Liang Y, Buckley TR, Tu L, Langdon SD and Tedder TF.
  TITLE     Structural organization of the human MS4A gene cluster on
            Chromosome 11q12
  JOURNAL   Immunogenetics 53 (5), 357-368 (2001)
   PUBMED   11486273
REFERENCE   2  (residues 1 to 267)
  AUTHORS   Liang Y and Tedder TF.
  TITLE     Identification of a CD20-, FcepsilonRIbeta-, and HTm4-related gene
            family: sixteen new MS4A family members expressed in human and
            mouse
  JOURNAL   Genomics 72 (2), 119-127 (2001)
   PUBMED   11401424
REFERENCE   3  (residues 1 to 267)
  AUTHORS   Ishibashi K, Suzuki M, Sasaki S and Imai M.
  TITLE     Identification of a new multigene four-transmembrane family (MS4A)
            related to CD20, HTm4 and beta subunit of the high-affinity IgE
            receptor
  JOURNAL   Gene 264 (1), 87-93 (2001)
   PUBMED   11245982
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP004243.2 and AK122633.1.
            On Feb 8, 2008 this sequence version replaced NP_996776.1.
            
            Summary: Most MS4A genes, including MS4A10, encode proteins with at
            least 4 potential transmembrane domains and N- and C-terminal
            cytoplasmic domains encoded by distinct exons.[supplied by OMIM,
            Apr 2004].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK122633.1, BC137259.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144835, SAMEA2152474
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308287.2/ ENSP00000311862.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..267
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.2"
     Protein         1..267
                     /product="membrane-spanning 4-domains subfamily A member
                     10"
                     /note="CD20 antigen-like 7; membrane-spanning 4-domains,
                     subfamily A, member 10"
                     /calculated_mol_wt=29616
     Region          60..193
                     /region_name="CD20"
                     /note="CD20-like family; pfam04103"
                     /db_xref="CDD:427713"
     Site            62..82
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PG2.3)"
     Site            92..112
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PG2.3)"
     Site            122..142
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PG2.3)"
     Site            172..192
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PG2.3)"
     CDS             1..267
                     /gene="MS4A10"
                     /gene_synonym="CD20L7; MS4A9"
                     /coded_by="NM_206893.4:112..915"
                     /db_xref="CCDS:CCDS7992.1"
                     /db_xref="GeneID:341116"
                     /db_xref="HGNC:HGNC:13368"
                     /db_xref="MIM:608403"
ORIGIN      
        1 mkaeatvips rcarglpswq vlspvqpwqt sapqnttqpk llaphqheks qkkssllkel
       61 gafhitiall hlvfggylas ivknlhlvvl kswypfwgaa sflisgilai tmktfsktyl
      121 kmlclmtnli slfcvlsglf viskdlfles pfespiwrmy pnstvhiqrl elallcftvl
      181 elflpvptav tawrgdcpsa knddaclvpn tplhlkglpv epppsyqsvi qgdaqhkqhq
      241 rlrevkqvap dtwivtdgaa iwtqtan
//
LOCUS       NP_001229827             959 aa            linear   PRI 25-DEC-2022
DEFINITION  serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform
            1 [Homo sapiens].
ACCESSION   NP_001229827
VERSION     NP_001229827.1
DBSOURCE    REFSEQ: accession NM_001242898.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 959)
  AUTHORS   Yadav L, Tamene F, Goos H, van Drogen A, Katainen R, Aebersold R,
            Gstaiger M and Varjosalo M.
  TITLE     Systematic Analysis of Human Protein Phosphatase Interactions and
            Dynamics
  JOURNAL   Cell Syst 4 (4), 430-444 (2017)
   PUBMED   28330616
REFERENCE   2  (residues 1 to 959)
  AUTHORS   Couzens AL, Knight JD, Kean MJ, Teo G, Weiss A, Dunham WH, Lin ZY,
            Bagshaw RD, Sicheri F, Pawson T, Wrana JL, Choi H and Gingras AC.
  TITLE     Protein interaction network of the mammalian Hippo pathway reveals
            mechanisms of kinase-phosphatase interactions
  JOURNAL   Sci Signal 6 (302), rs15 (2013)
   PUBMED   24255178
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 959)
  AUTHORS   Marquez J, Kohli M, Arteta B, Chang S, Li WB, Goldblatt M and
            Vidal-Vanaclocha F.
  TITLE     Identification of hepatic microvascular adhesion-related genes of
            human colon cancer cells using random homozygous gene perturbation
  JOURNAL   Int J Cancer 133 (9), 2113-2122 (2013)
   PUBMED   23629598
REFERENCE   4  (residues 1 to 959)
  AUTHORS   Zeng K, Bastos RN, Barr FA and Gruneberg U.
  TITLE     Protein phosphatase 6 regulates mitotic spindle formation by
            controlling the T-loop phosphorylation state of Aurora A bound to
            its activator TPX2
  JOURNAL   J Cell Biol 191 (7), 1315-1332 (2010)
   PUBMED   21187329
REFERENCE   5  (residues 1 to 959)
  AUTHORS   Stefansson B, Ohama T, Daugherty AE and Brautigan DL.
  TITLE     Protein phosphatase 6 regulatory subunits composed of ankyrin
            repeat domains
  JOURNAL   Biochemistry 47 (5), 1442-1451 (2008)
   PUBMED   18186651
REFERENCE   6  (residues 1 to 959)
  AUTHORS   Stefansson B and Brautigan DL.
  TITLE     Protein phosphatase 6 subunit with conserved Sit4-associated
            protein domain targets IkappaBepsilon
  JOURNAL   J Biol Chem 281 (32), 22624-22634 (2006)
   PUBMED   16769727
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX545851.6, DB452735.1,
            AK302472.1, AL671545.13 and AL096767.14.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a regulatory protein
            for the protein phosphatase-6 catalytic subunit. Together, these
            proteins act as a significant T-loop phosphatase for Aurora A, an
            essential mitotic kinase. Loss of function of either the regulatory
            or catalytic subunit of protein phosphatase-6 interferes with
            spindle formation and chromosome alignment. [provided by RefSeq,
            May 2017].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.272956.1,
                                           SRR3476690.990363.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000612753.5/ ENSP00000478417.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..959
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     Protein         1..959
                     /product="serine/threonine-protein phosphatase 6
                     regulatory subunit 2 isoform 1"
                     /note="SAPS domain family, member 2;
                     serine/threonine-protein phosphatase 6 regulatory subunit
                     2"
                     /calculated_mol_wt=104104
     Region          128..532
                     /region_name="SAPS"
                     /note="SIT4 phosphatase-associated protein; pfam04499"
                     /db_xref="CDD:398279"
     Site            289
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75170.2)"
     Region          408..436
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75170.2)"
     Region          657..707
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75170.2)"
     Region          <703..950
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            771
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8R3Q2; propagated from
                     UniProtKB/Swiss-Prot (O75170.2)"
     Region          812..849
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75170.2)"
     Site            821
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75170.2)"
     CDS             1..959
                     /gene="PPP6R2"
                     /gene_synonym="KIAA0685; PP6R2; SAP190; SAPS2"
                     /coded_by="NM_001242898.2:372..3251"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS74881.1"
                     /db_xref="GeneID:9701"
                     /db_xref="HGNC:HGNC:19253"
                     /db_xref="MIM:610877"
ORIGIN      
        1 mfwkfdlntt shvdklldke hvtlqelmde ddilqeckaq nqklldflcr qqcmeelvsl
       61 itqdppldme ekvrfkypnt acelltcdvp qisdrlggde sllsllydfl dhepplnpll
      121 asffsktign liarkteqvi tflkkkdkfi slvlkhigts almdlllrlv scvepaglrq
      181 dvlhwlneek viqrlvelih psqdedrqsn asqtlcdivr lgrdqgsqlq ealepdpllt
      241 alesqdcveq llknmfdgdr tesclvsgtq vlltlletrr vgteglvdsf sqglersyav
      301 sssvlhgiep rlkdfhqlll nppkkkailt tigvleeplg narlhgarlm aallhtntps
      361 inqelcrlnt mdllldlffk ytwnnflhfq velciaails haareertea sgsesrvepp
      421 hengnrslet pqpaaslpdn tmvthlfqkc clvqrileaw eandhtqaag gmrrgnmghl
      481 trianavvqn lergpvqthi sevirglpad crgrwesfve etltetnrrn tvdlvsthhl
      541 hsssededie gafpnelslq qafsdyqiqq mtanfvdqfg fndeefadqd dninapfdri
      601 aeinfnidad edspsaalfe accsdriqpf dddedediwe dsdtrcaarv marprfgaph
      661 asescskngp erggqdgkas leahrdapga gappapgkke appvegdseg amwtavfdep
      721 anstptapgv vrdvgssvwa agtsapeekg wakftdfqpf ccsesgprcs spvdtecsha
      781 egsrsqgpek afspaspcaw nvcvtrkapl lasdssssgg shsedgdqka asamdavsrg
      841 pgreapplpt varteeavgr vgcadsrlls pacpapkevt aapavavppe atvaittals
      901 kagpaiptpa vssalavavp lgpimavtaa pamvatlgtv tkdgktdapp egaalngpv
//
LOCUS       NP_001353124             364 aa            linear   PRI 25-DEC-2022
DEFINITION  Fc receptor-like A isoform 8 precursor [Homo sapiens].
ACCESSION   NP_001353124 XP_011508366
VERSION     NP_001353124.2
DBSOURCE    REFSEQ: accession NM_001366195.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 364)
  AUTHORS   Liu Y, Chen Y, Hu X, Meng J and Li X.
  TITLE     Development and Validation of the B Cell-Associated Fc
            Receptor-like Molecule-Based Prognostic Signature in Skin Cutaneous
            Melanoma
  JOURNAL   Biomed Res Int 2020, 8509805 (2020)
   PUBMED   32908921
  REMARK    GeneRIF: Development and Validation of the B Cell-Associated Fc
            Receptor-like Molecule-Based Prognostic Signature in Skin Cutaneous
            Melanoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 364)
  AUTHORS   Reshetnikova E, Guselnikov S, Volkova O, Baranov K, Taranin A and
            Mechetina L.
  TITLE     B cell-specific protein FCRLA is expressed by plasmacytoid
            dendritic cells in humans
  JOURNAL   Cytometry B Clin Cytom 94 (4), 683-687 (2018)
   PUBMED   29236355
  REMARK    GeneRIF: FCRLA has long been viewed as a B cell specific protein,
            and this is the first time its expression has also been shown in
            human plasmacytoid dendritic cells
REFERENCE   3  (residues 1 to 364)
  AUTHORS   Santiago T, Kulemzin SV, Reshetnikova ES, Chikaev NA, Volkova OY,
            Mechetina LV, Zhao M, Davis RS, Taranin AV, Najakshin AM,
            Hendershot LM and Burrows PD.
  TITLE     FCRLA is a resident endoplasmic reticulum protein that associates
            with intracellular Igs, IgM, IgG and IgA
  JOURNAL   Int Immunol 23 (1), 43-53 (2011)
   PUBMED   21149418
  REMARK    GeneRIF: The studies reported here demonstrate that FCRLA is more
            broadly expressed among human B lineage cells than originally
            reported; it is found at significant levels in resting blood B
            cells and at varying levels in all B-cell subsets in tonsil.
REFERENCE   4  (residues 1 to 364)
  AUTHORS   Wilson TJ, Gilfillan S and Colonna M.
  TITLE     Fc receptor-like A associates with intracellular IgG and IgM but is
            dispensable for antigen-specific immune responses
  JOURNAL   J Immunol 185 (5), 2960-2967 (2010)
   PUBMED   20668221
  REMARK    GeneRIF: Analysis of human cell lines has confirmed that FcRLA is
            not secreted but is maintained as an intracellular protein in B
            cells where it interacts with immunoglobulins.
REFERENCE   5  (residues 1 to 364)
  AUTHORS   Taylor AI, Gould HJ, Sutton BJ and Calvert RA.
  TITLE     The first avian Ig-like Fc receptor family member combines features
            of mammalian FcR and FCRL
  JOURNAL   Immunogenetics 59 (4), 323-328 (2007)
   PUBMED   17273841
REFERENCE   6  (residues 1 to 364)
  AUTHORS   Wilson TJ and Colonna M.
  TITLE     A new Fc receptor homolog, FREB2, found in germinal center B cells
  JOURNAL   Genes Immun 6 (4), 341-346 (2005)
   PUBMED   15815692
REFERENCE   7  (residues 1 to 364)
  AUTHORS   Inozume T, Matsuzaki Y, Kurihara S, Fujita T, Yamamoto A, Aburatani
            H, Shimada S and Kawakami Y.
  TITLE     Novel melanoma antigen, FCRL/FREB, identified by cDNA profile
            comparison using DNA chip are immunogenic in multiple melanoma
            patients
  JOURNAL   Int J Cancer 114 (2), 283-290 (2005)
   PUBMED   15551350
  REMARK    GeneRIF: FCRL/FREB may function in melanocytes and melanoma and may
            be useful for development of diagnostic methods for various pigment
            disorders and immunotherapy of melanoma.
REFERENCE   8  (residues 1 to 364)
  AUTHORS   Davis RS, Li H, Chen CC, Wang YH, Cooper MD and Burrows PD.
  TITLE     Definition of an Fc receptor-related gene (FcRX) expressed in human
            and mouse B cells
  JOURNAL   Int Immunol 14 (9), 1075-1083 (2002)
   PUBMED   12202404
REFERENCE   9  (residues 1 to 364)
  AUTHORS   Facchetti F, Cella M, Festa S, Fremont DH and Colonna M.
  TITLE     An unusual Fc receptor-related protein expressed in human
            centroblasts
  JOURNAL   Proc Natl Acad Sci U S A 99 (6), 3776-3781 (2002)
   PUBMED   11891275
REFERENCE   10 (residues 1 to 364)
  AUTHORS   Mechetina LV, Najakshin AM, Volkova OY, Guselnikov SV, Faizulin RZ,
            Alabyev BY, Chikaev NA, Vinogradova MS and Taranin AV.
  TITLE     FCRL, a novel member of the leukocyte Fc receptor family possesses
            unique structural features
  JOURNAL   Eur J Immunol 32 (1), 87-96 (2002)
   PUBMED   11754007
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359541.11.
            On May 22, 2019 this sequence version replaced NP_001353124.1.
            
            Summary: This gene encodes a protein similar to receptors for the
            Fc fragment of gamma immunoglobulin (IgG). These receptors,
            referred to as FCGRs, mediate the destruction of IgG-coated
            antigens and of cells induced by antibodies. This encoded protein
            is selectively expressed in B cells, and may be involved in their
            development. This protein may also be involved in the development
            of lymphomas. Multiple alternatively spliced transcript variants
            that encode different protein isoforms have been described for this
            gene. [provided by RefSeq, Aug 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.418441.1,
                                           SRR1163658.459422.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..364
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     Protein         1..364
                     /product="Fc receptor-like A isoform 8 precursor"
                     /note="Fc receptor-like and mucin-like 1; Fc receptor
                     related protein X; Fc receptor homolog expressed in B
                     cells (FREB); fc receptor-like protein; fc
                     receptor-related protein X; fc receptor homolog expressed
                     in B-cells; fc receptor-like and mucin-like protein 1"
                     /calculated_mol_wt=36390
     sig_peptide     1..27
                     /note="/evidence=ECO:0000269|PubMed:15340161; propagated
                     from UniProtKB/Swiss-Prot (Q7L513.2)"
                     /calculated_mol_wt=2995
     mat_peptide     33..364
                     /product="Fc receptor-like A. /id=PRO_0000227935"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7L513.2)"
                     /calculated_mol_wt=35951
     Region          84..170
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          100..104
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          114..118
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          131..135
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          145..150
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          163..166
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          176..247
                     /region_name="Ig_2"
                     /note="Immunoglobulin domain; pfam13895"
                     /db_xref="CDD:433563"
     Region          193..197
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          205..215
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          228..232
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          264..318
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7L513.2)"
     CDS             1..364
                     /gene="FCRLA"
                     /gene_synonym="FCRL; FCRL1; FCRLb; FCRLc1; FCRLc2; FCRLd;
                     FCRLe; FCRLM1; FCRLX; FCRX; FREB"
                     /coded_by="NM_001366195.2:37..1131"
                     /note="isoform 8 precursor is encoded by transcript
                     variant 8"
                     /db_xref="GeneID:84824"
                     /db_xref="HGNC:HGNC:18504"
                     /db_xref="MIM:606891"
ORIGIN      
        1 mklgcvlmaw alylslgvlw vaqmllagch aaasfetlqc egpvcteess chteddltda
       61 reagfqvkay tfsepfhliv sydwlilqgp akpvfegdll vlrcqawqdw pltqvtfyrd
      121 gsalgppgpn refsitvvqk adsghyhcsg ifqspgpgip etasvvaitv qelfpapilr
      181 avpsaepqag spmtlscqtk lplqrsaarl lfsfykdgri vqsrglssef qiptasedhs
      241 gsywceaate dnqvwkqspq leirvqgass saapptlnpa pqksaapgta peeapgplpp
      301 pptpssedpg fssplgmpdp hlyhqmglll khmqdvrvll ghllmelrel sghrkpgttk
      361 atae
//
LOCUS       NP_001316331             214 aa            linear   PRI 25-DEC-2022
DEFINITION  vacuole membrane protein 1 isoform 9 [Homo sapiens].
ACCESSION   NP_001316331
VERSION     NP_001316331.1
DBSOURCE    REFSEQ: accession NM_001329402.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 214)
  AUTHORS   Jiang X, Fulte S, Deng F, Chen S, Xie Y, Chao X, He XC, Zhang Y, Li
            T, Li F, McCoin C, Morris EM, Thyfault J, Liu W, Li L, Davidson NO,
            Ding WX and Ni HM.
  TITLE     Lack of VMP1 impairs hepatic lipoprotein secretion and promotes
            non-alcoholic steatohepatitis
  JOURNAL   J Hepatol 77 (3), 619-631 (2022)
   PUBMED   35452693
  REMARK    GeneRIF: Lack of VMP1 impairs hepatic lipoprotein secretion and
            promotes non-alcoholic steatohepatitis.
REFERENCE   2  (residues 1 to 214)
  AUTHORS   Wei X, Yang Z, Chen G and Huang J.
  TITLE     VMP1 promotes exosome secretion and enhances 5-FU resistance in
            colon cancer cells
  JOURNAL   Tissue Cell 77, 101851 (2022)
   PUBMED   35696974
  REMARK    GeneRIF: VMP1 promotes exosome secretion and enhances 5-FU
            resistance in colon cancer cells.
REFERENCE   3  (residues 1 to 214)
  AUTHORS   Ji M, Li M, Sun L, Zhao H, Li Y, Zhou L, Yang Z, Zhao X, Qu W, Xue
            H, Zheng Z, Li Y, Deng H and Zhao YG.
  TITLE     VMP1 and TMEM41B are essential for DMV formation during
            beta-coronavirus infection
  JOURNAL   J Cell Biol 221 (6) (2022)
   PUBMED   35536318
  REMARK    GeneRIF: VMP1 and TMEM41B are essential for DMV formation during
            beta-coronavirus infection.
REFERENCE   4  (residues 1 to 214)
  AUTHORS   Vaccaro MI, Mitchell F, Rivera F and Gonzalez CD.
  TITLE     Protein expression in exocrine pancreatic diseases. Focus on VMP1
            mediated autophagy
  JOURNAL   Adv Protein Chem Struct Biol 132, 175-197 (2022)
   PUBMED   36088075
  REMARK    GeneRIF: Protein expression in exocrine pancreatic diseases. Focus
            on VMP1 mediated autophagy.
REFERENCE   5  (residues 1 to 214)
  AUTHORS   Reinisch KM, Chen XW and Melia TJ.
  TITLE     'VTT'-domain proteins VMP1 and TMEM41B function in lipid
            homeostasis globally and locally as ER scramblases
  JOURNAL   Contact (Thousand Oaks) 4 (2021)
   PUBMED   34447902
REFERENCE   6  (residues 1 to 214)
  AUTHORS   Sauermann M, Sahin O, Sultmann H, Hahne F, Blaszkiewicz S, Majety
            M, Zatloukal K, Fuzesi L, Poustka A, Wiemann S and Arlt D.
  TITLE     Reduced expression of vacuole membrane protein 1 affects the
            invasion capacity of tumor cells
  JOURNAL   Oncogene 27 (9), 1320-1326 (2008)
   PUBMED   17724469
  REMARK    GeneRIF: Endogenously expressed Vmp1 is essentially a cell membrane
            protein that is involved in cell-cell adhesion, invasion and
            metastasis.
REFERENCE   7  (residues 1 to 214)
  AUTHORS   Ropolo A, Grasso D, Pardo R, Sacchetti ML, Archange C, Lo Re A,
            Seux M, Nowak J, Gonzalez CD, Iovanna JL and Vaccaro MI.
  TITLE     The pancreatitis-induced vacuole membrane protein 1 triggers
            autophagy in mammalian cells
  JOURNAL   J Biol Chem 282 (51), 37124-37133 (2007)
   PUBMED   17940279
  REMARK    GeneRIF: VMP1 as a novel autophagy-related membrane protein
            involved in the initial steps of the mammalian cell autophagic
            process.
REFERENCE   8  (residues 1 to 214)
  AUTHORS   Starkuviene V, Liebel U, Simpson JC, Erfle H, Poustka A, Wiemann S
            and Pepperkok R.
  TITLE     High-content screening microscopy identifies novel proteins with a
            putative role in secretory membrane traffic
  JOURNAL   Genome Res 14 (10A), 1948-1956 (2004)
   PUBMED   15466293
REFERENCE   9  (residues 1 to 214)
  AUTHORS   Dusetti NJ, Jiang Y, Vaccaro MI, Tomasini R, Azizi Samir A, Calvo
            EL, Ropolo A, Fiedler F, Mallo GV, Dagorn JC and Iovanna JL.
  TITLE     Cloning and expression of the rat vacuole membrane protein 1
            (VMP1), a new gene activated in pancreas with acute pancreatitis,
            which promotes vacuole formation
  JOURNAL   Biochem Biophys Res Commun 290 (2), 641-649 (2002)
   PUBMED   11785947
REFERENCE   10 (residues 1 to 214)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK301254.1, AK024969.1,
            CA412810.1, CB216599.1, BM803108.1 and BQ002999.1.
            
            Summary: This gene encodes a transmembrane protein that plays a key
            regulatory role in the process of autophagy. The ectopic
            overexpression of the encoded protein in cultured cells triggers
            autophagy even under nutrient-rich conditions. This gene is
            overexpressed in pancreatitis affected acinar cells where the
            encoded protein mediates sequestration and degradation of
            potentially deleterious activated zymogen granules in a process
            termed, zymophagy. [provided by RefSeq, Jul 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.155569.1,
                                           SRR1803612.249346.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146236, SAMEA2146411
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..214
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.1"
     Protein         1..214
                     /product="vacuole membrane protein 1 isoform 9"
                     /note="transmembrane protein 49; ectopic P-granules
                     autophagy protein 3 homolog; transport and golgi
                     organization 5 homolog"
                     /calculated_mol_wt=24017
     Region          <55..106
                     /region_name="SNARE_assoc"
                     /note="SNARE associated Golgi protein; cl00429"
                     /db_xref="CDD:444902"
     CDS             1..214
                     /gene="VMP1"
                     /gene_synonym="EPG3; TANGO5; TMEM49"
                     /coded_by="NM_001329402.2:562..1206"
                     /note="isoform 9 is encoded by transcript variant 10"
                     /db_xref="GeneID:81671"
                     /db_xref="HGNC:HGNC:29559"
                     /db_xref="MIM:611753"
ORIGIN      
        1 mwgigtaige lppyfmaraa rlsgaepdde eyqefeemle haesaqdfas raklavqklv
       61 qkvgffgila casipnplfd lagitcghfl vpfwtffgat ligkaiikmh iqkifviitf
      121 skhiveqmva figavpgigp slqkpfqeyl eaqrqklhhk semgtpqgen wlswmfeklv
      181 vvmvcyfils iinsmaqsya kriqqrlnse ektk
//
LOCUS       NP_001186873             304 aa            linear   PRI 25-DEC-2022
DEFINITION  endophilin-A2 isoform 3 [Homo sapiens].
ACCESSION   NP_001186873
VERSION     NP_001186873.1
DBSOURCE    REFSEQ: accession NM_001199944.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 304)
  AUTHORS   Malinova D, Wasim L, Newman R, Martinez-Riano A, Engels N and Tolar
            P.
  TITLE     Endophilin A2 regulates B-cell endocytosis and is required for
            germinal center and humoral responses
  JOURNAL   EMBO Rep 22 (9), e51328 (2021)
   PUBMED   34323351
  REMARK    GeneRIF: Endophilin A2 regulates B-cell endocytosis and is required
            for germinal center and humoral responses.
REFERENCE   2  (residues 1 to 304)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 304)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 304)
  AUTHORS   Chen SL, Liu YG, Zhou YT, Zhao P, Ren H, Xiao M, Zhu YZ and Qi ZT.
  TITLE     Endophilin-A2-mediated endocytic pathway is critical for
            enterovirus 71 entry into caco-2 cells
  JOURNAL   Emerg Microbes Infect 8 (1), 773-786 (2019)
   PUBMED   31132962
  REMARK    GeneRIF: EV71 enters Caco-2 cells mainly via an
            endophilin-A2-mediated endocytic pathway.
REFERENCE   5  (residues 1 to 304)
  AUTHORS   Soubeyran P, Kowanetz K, Szymkiewicz I, Langdon WY and Dikic I.
  TITLE     Cbl-CIN85-endophilin complex mediates ligand-induced downregulation
            of EGF receptors
  JOURNAL   Nature 416 (6877), 183-187 (2002)
   PUBMED   11894095
  REMARK    Erratum:[Nature 2002 May 2;417(6884):102]
REFERENCE   6  (residues 1 to 304)
  AUTHORS   So CW, Sham MH, Chew SL, Cheung N, So CK, Chung SK, Caldas C,
            Wiedemann LM and Chan LC.
  TITLE     Expression and protein-binding studies of the EEN gene family, new
            interacting partners for dynamin, synaptojanin and huntingtin
            proteins
  JOURNAL   Biochem J 348 Pt 2 (Pt 2), 447-458 (2000)
   PUBMED   10816441
REFERENCE   7  (residues 1 to 304)
  AUTHORS   So CW, So CK, Cheung N, Chew SL, Sham MH and Chan LC.
  TITLE     The interaction between EEN and Abi-1, two MLL fusion partners, and
            synaptojanin and dynamin: implications for leukaemogenesis
  JOURNAL   Leukemia 14 (4), 594-601 (2000)
   PUBMED   10764144
REFERENCE   8  (residues 1 to 304)
  AUTHORS   Cestra G, Castagnoli L, Dente L, Minenkova O, Petrelli A, Migone N,
            Hoffmuller U, Schneider-Mergener J and Cesareni G.
  TITLE     The SH3 domains of endophilin and amphiphysin bind to the
            proline-rich region of synaptojanin 1 at distinct sites that
            display an unconventional binding specificity
  JOURNAL   J Biol Chem 274 (45), 32001-32007 (1999)
   PUBMED   10542231
REFERENCE   9  (residues 1 to 304)
  AUTHORS   Giachino C, Lantelme E, Lanzetti L, Saccone S, Bella Valle G and
            Migone N.
  TITLE     A novel SH3-containing human gene family preferentially expressed
            in the central nervous system
  JOURNAL   Genomics 41 (3), 427-434 (1997)
   PUBMED   9169142
REFERENCE   10 (residues 1 to 304)
  AUTHORS   So CW, Caldas C, Liu MM, Chen SJ, Huang QH, Gu LJ, Sham MH,
            Wiedemann LM and Chan LC.
  TITLE     EEN encodes for a member of a new family of proteins containing an
            Src homology 3 domain and is the third gene located on chromosome
            19p13 that fuses to MLL in human leukemia
  JOURNAL   Proc Natl Acad Sci U S A 94 (6), 2563-2568 (1997)
   PUBMED   9122235
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011498.7, AK097616.1,
            AC007292.1 and CK820395.1.
            
            Summary: This gene encodes a member of the endophilin family of Src
            homology 3 domain-containing proteins. The encoded protein is
            involved in endocytosis and may also play a role in the cell cycle.
            Overexpression of this gene may play a role in leukemogenesis, and
            the encoded protein has been implicated in acute myeloid leukemia
            as a fusion partner of the myeloid-lymphoid leukemia protein.
            Pseudogenes of this gene are located on the long arm of chromosomes
            11 and 17. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, Jan 2011].
            
            Transcript Variant: This variant (3) uses two alternate in-frame
            splice sites in the coding region but maintains the reading frame,
            compared to variant 1. This results in a shorter protein (isoform
            3), compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK097616.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..304
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..304
                     /product="endophilin-A2 isoform 3"
                     /note="SH3-domain GRB2-like 1; endophilin-A2; extra 11-19
                     leukemia fusion; SH3-containing Grb-2-like 1 protein;
                     endophilin-2; SH3 domain protein 2B; EEN fusion partner of
                     MLL; SH3 domain-containing GRB2-like protein 1; extra
                     eleven-nineteen leukemia fusion gene protein"
                     /calculated_mol_wt=34388
     Region          25..183
                     /region_name="BAR"
                     /note="The Bin/Amphiphysin/Rvs (BAR) domain, a
                     dimerization module that binds membranes and detects
                     membrane curvature; cl12013"
                     /db_xref="CDD:448379"
     Region          245..299
                     /region_name="SH3_Endophilin_A"
                     /note="Src homology 3 domain of Endophilin-A; cd11803"
                     /db_xref="CDD:212737"
     Site            order(251,253,256,260,278..279,292,294..295)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212737"
     CDS             1..304
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /coded_by="NM_001199944.2:180..1094"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS59335.1"
                     /db_xref="GeneID:6455"
                     /db_xref="HGNC:HGNC:10830"
                     /db_xref="MIM:601768"
ORIGIN      
        1 msvaglkkqf ykasqlvsek vggaegtkld ddfkemekkv dvtskavtev lartieylqp
       61 npasrakltm lntvskirgq nlcekdlkei qhhlkklegr rldfdykkkr qgkipdeelr
      121 qalekfeesk evaetsmhnl letdieqvsq lsalvdaqld yhrqavqild elaeklkrrm
      181 reassrpkre ykpkprepfd lgepeqsngg fpcttapkia asssfrssdk pirtpsrsmp
      241 pldqpsckal ydfependge lgfhegdvit ltnqidenwy egmldgqsgf fplsyvevlv
      301 plpq
//
LOCUS       NP_031385                703 aa            linear   PRI 25-DEC-2022
DEFINITION  protein CASC3 [Homo sapiens].
ACCESSION   NP_031385
VERSION     NP_031385.2
DBSOURCE    REFSEQ: accession NM_007359.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 703)
  AUTHORS   Gerbracht JV, Boehm V, Britto-Borges T, Kallabis S, Wiederstein JL,
            Ciriello S, Aschemeier DU, Kruger M, Frese CK, Altmuller J,
            Dieterich C and Gehring NH.
  TITLE     CASC3 promotes transcriptome-wide activation of nonsense-mediated
            decay by the exon junction complex
  JOURNAL   Nucleic Acids Res 48 (15), 8626-8644 (2020)
   PUBMED   32621609
  REMARK    GeneRIF: CASC3 promotes transcriptome-wide activation of
            nonsense-mediated decay by the exon junction complex.
REFERENCE   2  (residues 1 to 703)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 703)
  AUTHORS   Zhan X, Yan C, Zhang X, Lei J and Shi Y.
  TITLE     Structure of a human catalytic step I spliceosome
  JOURNAL   Science 359 (6375), 537-545 (2018)
   PUBMED   29301961
REFERENCE   4  (residues 1 to 703)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 703)
  AUTHORS   Mao H, Brown HE and Silver DL.
  TITLE     Mouse models of Casc3 reveal developmental functions distinct from
            other components of the exon junction complex
  JOURNAL   RNA 23 (1), 23-31 (2017)
   PUBMED   27780844
REFERENCE   6  (residues 1 to 703)
  AUTHORS   Macchi P, Kroening S, Palacios IM, Baldassa S, Grunewald B,
            Ambrosino C, Goetze B, Lupas A, St Johnston D and Kiebler M.
  TITLE     Barentsz, a new component of the Staufen-containing
            ribonucleoprotein particles in mammalian cells, interacts with
            Staufen in an RNA-dependent manner
  JOURNAL   J Neurosci 23 (13), 5778-5788 (2003)
   PUBMED   12843282
REFERENCE   7  (residues 1 to 703)
  AUTHORS   Degot S, Regnier CH, Wendling C, Chenard MP, Rio MC and Tomasetto
            C.
  TITLE     Metastatic Lymph Node 51, a novel nucleo-cytoplasmic protein
            overexpressed in breast cancer
  JOURNAL   Oncogene 21 (28), 4422-4434 (2002)
   PUBMED   12080473
REFERENCE   8  (residues 1 to 703)
  AUTHORS   Varis A, Wolf M, Monni O, Vakkari ML, Kokkola A, Moskaluk C,
            Frierson H Jr, Powell SM, Knuutila S, Kallioniemi A and El-Rifai W.
  TITLE     Targets of gene amplification and overexpression at 17q in gastric
            cancer
  JOURNAL   Cancer Res 62 (9), 2625-2629 (2002)
   PUBMED   11980659
REFERENCE   9  (residues 1 to 703)
  AUTHORS   Le Hir H, Gatfield D, Izaurralde E and Moore MJ.
  TITLE     The exon-exon junction complex provides a binding platform for
            factors involved in mRNA export and nonsense-mediated mRNA decay
  JOURNAL   EMBO J 20 (17), 4987-4997 (2001)
   PUBMED   11532962
REFERENCE   10 (residues 1 to 703)
  AUTHORS   Tomasetto C, Regnier C, Moog-Lutz C, Mattei MG, Chenard MP,
            Lidereau R, Basset P and Rio MC.
  TITLE     Identification of four novel human genes amplified and
            overexpressed in breast carcinoma and localized to the q11-q21.3
            region of chromosome 17
  JOURNAL   Genomics 28 (3), 367-376 (1995)
   PUBMED   7490069
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X80199.2.
            On Sep 22, 2001 this sequence version replaced NP_031385.1.
            
            Summary: The product of this gene is a core component of the exon
            junction complex (EJC), a protein complex that is deposited on
            spliced mRNAs at exon-exon junctions and functions in
            nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA
            and interacts with two other EJC core components. It is
            predominantly located in the cytoplasm, but shuttles into the
            nucleus where it localizes to nuclear speckles. [provided by
            RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC050526.1, X80199.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264645.12/ ENSP00000264645.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..703
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.1"
     Protein         1..703
                     /product="protein CASC3"
                     /note="metastatic lymph node 51; barentsz; cancer
                     susceptibility candidate 3; MLN 51; protein barentsz;
                     metastatic lymph node gene 51 protein; cancer
                     susceptibility candidate gene 3 protein; cancer
                     susceptibility 3"
                     /calculated_mol_wt=76147
     Site            35
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K3W3; propagated from
                     UniProtKB/Swiss-Prot (O15234.2)"
     Site            117
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O15234.2)"
     Region          146..248
                     /region_name="Btz"
                     /note="CASC3/Barentsz eIF4AIII binding; smart01044"
                     /db_xref="CDD:214991"
     Site            148
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O15234.2)"
     Region          170..245
                     /region_name="speckle localizer and RNA binding (SELOR)
                     module"
     Region          254..262
                     /region_name="Nuclear localization signal 2.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O15234.2)"
     Site            265
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O15234.2)"
     Site            357
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O15234.2)"
     Site            363
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O15234.2)"
     Site            373
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O15234.2)"
     Region          377..703
                     /region_name="Necessary for localization in cytoplasmic
                     stress granules"
                     /note="propagated from UniProtKB/Swiss-Prot (O15234.2)"
     Region          462..466
                     /region_name="Nuclear export signal"
                     /note="propagated from UniProtKB/Swiss-Prot (O15234.2)"
     Site            477
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O15234.2)"
     Region          492..538
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15234.2)"
     Region          <555..703
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          633..703
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15234.2)"
     CDS             1..703
                     /gene="CASC3"
                     /gene_synonym="BTZ; MLN51"
                     /coded_by="NM_007359.5:13..2124"
                     /db_xref="CCDS:CCDS11362.1"
                     /db_xref="GeneID:22794"
                     /db_xref="HGNC:HGNC:17040"
                     /db_xref="MIM:606504"
ORIGIN      
        1 madrrrqras qdtedeesga sgsdsggspl rgggscsgsa ggggsgslps qrggrtgalh
       61 lrrvesggak saeesecese dgiegdavls dyesaedseg eegeyseeen skvelksean
      121 davnsstkee kgeekpdtks tvtgerqsgd gqestepven kvgkkgpkhl dddedrknpa
      181 yiprkglffe hdlrgqtqee evrpkgrqrk lwkdegrweh dkfredeqap ksrqelialy
      241 gydirsahnp ddikprrirk prygsppqrd pnwngerlnk shrhqglggt lpprtfinrn
      301 aagtgrmsap rnysrsggfk egragfrpve aggqhggrsg etvkheisyr srrleqtsvr
      361 dpspeadapv lgspekeeaa seppaaapda appppdrpie kksysrarrt rtkvgdavkl
      421 aeevppppeg lipappvpet tptpptktgt weapvdssts gleqdvaqln iaeqnwspgq
      481 psflqprelr gmpnhihmga gpppqfnrme emgvqggrak ryssqrqrpv peppappvhi
      541 simeghyydp lqfqgpiyth gdspaplppq gmlvqpgmnl phpglhphqt paplpnpgly
      601 pppvsmspgq pppqqllapt yfsapgvmnf gnpsypyapg alpppppphl ypntqapsqv
      661 yggvtyynpa qqqvqpkpsp prrtpqpvti kppppevvsr gss
//
LOCUS       NP_001341337             239 aa            linear   PRI 26-DEC-2022
DEFINITION  rab-like protein 2A isoform 5 [Homo sapiens].
ACCESSION   NP_001341337 XP_016858695
VERSION     NP_001341337.1
DBSOURCE    REFSEQ: accession NM_001354408.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 239)
  AUTHORS   Zhou M, Chen X, Bai H, Sun Y, Zhang Z, Li S, Wang X and Zeng M.
  TITLE     RABL2A-CCDC34 Axis Promotes Sorafenib Resistance in Hepatocellular
            Carcinoma
  JOURNAL   DNA Cell Biol 40 (11), 1418-1427 (2021)
   PUBMED   34767735
  REMARK    GeneRIF: RABL2A-CCDC34 Axis Promotes Sorafenib Resistance in
            Hepatocellular Carcinoma.
REFERENCE   2  (residues 1 to 239)
  AUTHORS   Ding X, Fragoza R, Singh P, Zhang S, Yu H and Schimenti JC.
  TITLE     Variants in RABL2A causing male infertility and ciliopathy
  JOURNAL   Hum Mol Genet 29 (20), 3402-3411 (2020)
   PUBMED   33075816
  REMARK    GeneRIF: Variants in RABL2A causing male infertility and
            ciliopathy.
REFERENCE   3  (residues 1 to 239)
  AUTHORS   Dateyama I, Sugihara Y, Chiba S, Ota R, Nakagawa R, Kobayashi T and
            Itoh H.
  TITLE     RABL2 positively controls localization of GPCRs in mammalian
            primary cilia
  JOURNAL   J Cell Sci 132 (2) (2019)
   PUBMED   30578315
  REMARK    GeneRIF: RABL2 controls localization of GPR161 independently of
            TULP3, which promotes entry of ciliary GPCRs.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 239)
  AUTHORS   Jamsai D, Lo JC, McLachlan RI and O'Bryan MK.
  TITLE     Genetic variants in the RABL2A gene in fertile and
            oligoasthenospermic infertile men
  JOURNAL   Fertil Steril 102 (1), 223-229 (2014)
   PUBMED   24825419
  REMARK    GeneRIF: Suggest the 114391996 delC allele in the RABL2A gene may
            act as a risk factor for oligoasthenospermic infertility in
            Australian men.
REFERENCE   5  (residues 1 to 239)
  AUTHORS   Kramer M, Backhaus O, Rosenstiel P, Horn D, Klopocki E, Birkenmeier
            G, Schreiber S, Platzer M, Hampe J and Huse K.
  TITLE     Analysis of relative gene dosage and expression differences of the
            paralogs RABL2A and RABL2B by Pyrosequencing
  JOURNAL   Gene 455 (1-2), 1-7 (2010)
   PUBMED   20138207
  REMARK    GeneRIF: In human samples no deviations of the euploid genomic
            state could be detected indicating that 22q13 microdeletions
            involving RABL2B are rare.
REFERENCE   6  (residues 1 to 239)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   7  (residues 1 to 239)
  AUTHORS   Wong AC, Shkolny D, Dorman A, Willingham D, Roe BA and McDermid HE.
  TITLE     Two novel human RAB genes with near identical sequence each map to
            a telomere-associated region: the subtelomeric region of 22q13.3
            and the ancestral telomere band 2q13
  JOURNAL   Genomics 59 (3), 326-334 (1999)
   PUBMED   10444334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL078621.19.
            On Aug 29, 2017 this sequence version replaced XP_016858695.1.
            
            Summary: This gene is a member of the RAB gene family which belongs
            to the RAS GTPase superfamily. The proteins in the family of
            RAS-related signaling molecules are small GTP-binding proteins that
            play important roles in the regulation of exocytotic and
            endocytotic pathways. This gene maps to the site of an ancestral
            telomere fusion event and may be a subtelomeric gene. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Apr 2015].
            
            Transcript Variant: This variant (10), as well as variants 7-9 and
            11, encodes the longest isoform (5).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.9060.1,
                                           SRR1660807.195914.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..239
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.1"
     Protein         1..239
                     /product="rab-like protein 2A isoform 5"
                     /note="RAB-like protein 2A"
                     /calculated_mol_wt=27141
     Region          22..192
                     /region_name="RabL2"
                     /note="Rab GTPase-like family 2 (Rab-like2); cd04124"
                     /db_xref="CDD:133324"
     Site            22..23
                     /site_type="other"
                     /note="Rab subfamily motif 1 (RabSF1)"
                     /db_xref="CDD:133324"
     Site            28..35
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:133324"
     Site            order(30..36,46,52..53,79,133..134,136,160..162)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:133324"
     Site            order(36..46,51..52)
                     /site_type="other"
                     /note="Rab subfamily motif 2 (RabSF2)"
                     /db_xref="CDD:133324"
     Site            order(46,51..59)
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:133324"
     Site            order(51,55..62,69,71)
                     /site_type="other"
                     /note="putative GEF interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:133324"
     Site            53
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:133324"
     Site            order(54,56..58,73,75,82..83,86,90,92..95)
                     /site_type="active"
                     /note="putative effector interaction site [active]"
                     /db_xref="CDD:133324"
     Site            order(54..55,57,75..76,83,85,87..89)
                     /site_type="other"
                     /note="putative GDI interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:133324"
     Site            54..58
                     /site_type="other"
                     /note="Rab family motif 1 (RabF1)"
                     /db_xref="CDD:133324"
     Site            71..75
                     /site_type="other"
                     /note="Rab family motif 2 (RabF2)"
                     /db_xref="CDD:133324"
     Site            76..79
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:133324"
     Site            order(79,81..91)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:133324"
     Site            82..87
                     /site_type="other"
                     /note="Rab family motif 3 (RabF3)"
                     /db_xref="CDD:133324"
     Site            90..94
                     /site_type="other"
                     /note="Rab family motif 4 (RabF4)"
                     /db_xref="CDD:133324"
     Site            99..104
                     /site_type="other"
                     /note="Rab family motif 5 (RabF5)"
                     /db_xref="CDD:133324"
     Site            122..130
                     /site_type="other"
                     /note="Rab subfamily motif 3 (RabSF3)"
                     /db_xref="CDD:133324"
     Site            133..136
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:133324"
     Site            160..162
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:133324"
     Site            186..192
                     /site_type="other"
                     /note="Rab subfamily motif 4 (RabSF4)"
                     /db_xref="CDD:133324"
     CDS             1..239
                     /gene="RABL2A"
                     /coded_by="NM_001354408.2:348..1067"
                     /note="isoform 5 is encoded by transcript variant 10"
                     /db_xref="GeneID:11159"
                     /db_xref="HGNC:HGNC:9799"
                     /db_xref="MIM:605412"
ORIGIN      
        1 maedktkpse ldqgkydadd nvkiiclgds avgksklmer flmdgfqpqq lstyaltlyk
       61 htatvdgkti lvdfwdtagq erfqsmhasy yhkahacimv fdiqrkvtyr nlstwytelr
      121 efrpeipciv vankidadin vtqksfnfak kfslplyfvs aadgtnvvkv wltaevaskl
      181 fndairlavs ykqnsqdfmd eifqelenfs leqeeedvpd qeqsssietp seevasphs
//
LOCUS       NP_001276876             156 aa            linear   PRI 26-DEC-2022
DEFINITION  glutamate-rich protein 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001276876
VERSION     NP_001276876.1
DBSOURCE    REFSEQ: accession NM_001289947.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 156)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 156)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 156)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N,
            Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar
            M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC127676.1, BQ429225.1 and AC007405.6.
            
            Transcript Variant: This variant (2) differs in the 5' UTR, has
            multiple coding region differences, and initiates translation at an
            alternate start codon, compared to variant 1. The encoded isoform
            (2) has a distinct N-terminus and is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BI560717.1, BU568174.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..156
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     Protein         1..156
                     /product="glutamate-rich protein 2 isoform 2"
                     /note="glutamate-rich protein 2"
                     /calculated_mol_wt=17541
     Region          29..66
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A1L162.1)"
     Region          116..156
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A1L162.1)"
     CDS             1..156
                     /gene="ERICH2"
                     /coded_by="NM_001289947.2:49..519"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS77486.1"
                     /db_xref="GeneID:285141"
                     /db_xref="HGNC:HGNC:44395"
ORIGIN      
        1 metvnepetg evskdavivk qeknneyclq diddklsesa eddgeddtnd edddedsnpk
       61 kntqaplelm aeflraemar eyqlakklcq miliyepenp eakefftlie emllmektqn
      121 heqdgensde dssgeskges deelsdessd egedgs
//
LOCUS       NP_001271171             474 aa            linear   PRI 26-DEC-2022
DEFINITION  serine-rich coiled-coil domain-containing protein 2 isoform 4 [Homo
            sapiens].
ACCESSION   NP_001271171 XP_005269966
VERSION     NP_001271171.1
DBSOURCE    REFSEQ: accession NM_001284242.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 474)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe
            JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C,
            Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J,
            White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L,
            Morris JC, Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC074321.10, BQ440427.1, AK294321.1, AF241785.1, AL356115.9 and
            BQ028021.1.
            On Sep 26, 2013 this sequence version replaced XP_005269966.1.
            
            Transcript Variant: This variant (4) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream start codon, compared to variant 1. The encoded isoform
            (4) is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BQ440427.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..474
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.1"
     Protein         1..474
                     /product="serine-rich coiled-coil domain-containing
                     protein 2 isoform 4"
                     /note="protein GCAP14 homolog; protein FAM190B; family
                     with sequence similarity 190, member B; serine-rich
                     coiled-coil domain-containing protein 2"
                     /calculated_mol_wt=53572
     CDS             1..474
                     /gene="CCSER2"
                     /gene_synonym="bA486O22.1; FAM190B; Gcap14; KIAA1128"
                     /coded_by="NM_001284242.2:73..1497"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:54462"
                     /db_xref="HGNC:HGNC:29197"
                     /db_xref="MIM:619944"
ORIGIN      
        1 mnrfdrpdrn vrqpqegfwk rppqrwsgqe hyhlshpdhy hhhgksdlsr gspyresplg
       61 hfesyggmpf fqaqkmfvdv pentvildem tlrhmvqdct avktqllklk rllhqhdgsg
      121 slhdiqlslp sspepedgdk vyknedllne ikqlkdeikk kdekiqllel qlatqhichq
      181 kckeekctya dkytqtpwrr ippqvlqpss slprptdhtq gklikpqrie arsecsiqdm
      241 hqggahpees fthvlhqesn ygleeqpfss gpqltmdvak stpseanlni tvnaqepyhl
      301 annqisdmqf iptslqtppe sstvdqakrv grnqsppvgy msqpkslqll kpsilsslvp
      361 ppvsesspsr tptckkspii ttcnsaklqp tssqtnlann qnlkasklrp psgsfkqkqt
      421 nspqlepqsf qaktsiprpl tqrkeimqnp ngnlhsgdcl asnrysrlpk pkih
//
LOCUS       NP_001243895             302 aa            linear   PRI 26-DEC-2022
DEFINITION  mitochondrial potassium channel isoform 2 [Homo sapiens].
ACCESSION   NP_001243895
VERSION     NP_001243895.1
DBSOURCE    REFSEQ: accession NM_001256966.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 302)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 302)
  AUTHORS   Paggio A, Checchetto V, Campo A, Menabo R, Di Marco G, Di Lisa F,
            Szabo I, Rizzuto R and De Stefani D.
  TITLE     Identification of an ATP-sensitive potassium channel in
            mitochondria
  JOURNAL   Nature 572 (7771), 609-613 (2019)
   PUBMED   31435016
REFERENCE   3  (residues 1 to 302)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP307614.1, AL533758.3, BQ050243.1, AC134772.2 and BC011993.1.
            
            Transcript Variant: This variant (4) uses an alternate splice site
            in the 5' region and initiates translation at a downstream,
            in-frame start codon, compared to variant 1. Variants 3, 4, 5, 6
            and 7 encode the same isoform (2), which has a shorter N-terminus
            compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.240374.1,
                                           SRR1163658.117819.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..302
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..302
                     /product="mitochondrial potassium channel isoform 2"
                     /note="coiled-coil domain-containing protein 51;
                     mitochondrial potassium channel"
                     /calculated_mol_wt=33526
     CDS             1..302
                     /gene="CCDC51"
                     /gene_synonym="MITOK"
                     /coded_by="NM_001256966.3:347..1255"
                     /note="isoform 2 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS58830.1"
                     /db_xref="GeneID:79714"
                     /db_xref="HGNC:HGNC:25714"
                     /db_xref="MIM:618585"
ORIGIN      
        1 mvarglvrea redlevhqak lkevrdrldr vsredsqyle latlehrmlq eekrlrtayl
       61 raedserekf slfsaavres hekertraer tknwsligsv lgaligvags tyvnrvrlqe
      121 lkallleaqk gpvslqeair eqassysrqq rdlhnlmvdl rglvhaagpg qdsgsqagsp
      181 ptrdrdvdvl saalkeqlsh srqvhscleg lreqldglek tcsqmagvvq lvksaahpgl
      241 vepadgamps flleqgsmil alsdteqrle aqvnrntiys tlvtcvtfva tlpvlymlfk
      301 as
//
LOCUS       NP_001275905             609 aa            linear   PRI 26-DEC-2022
DEFINITION  X-ray repair cross-complementing protein 6 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001275905 XP_005261544
VERSION     NP_001275905.1
DBSOURCE    REFSEQ: accession NM_001288976.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 609)
  AUTHORS   Shao L, Ning K, Wang J, Cheng F, Wang S and Qiu J.
  TITLE     The Large Nonstructural Protein (NS1) of Human Bocavirus 1 Directly
            Interacts with Ku70, Which Plays an Important Role in Virus
            Replication in Human Airway Epithelia
  JOURNAL   J Virol 96 (4), e0184021 (2022)
   PUBMED   34878919
  REMARK    GeneRIF: The Large Nonstructural Protein (NS1) of Human Bocavirus 1
            Directly Interacts with Ku70, Which Plays an Important Role in
            Virus Replication in Human Airway Epithelia.
REFERENCE   2  (residues 1 to 609)
  AUTHORS   Luo S, Wang W, Feng J and Li R.
  TITLE     TEX10 Promotes the Tumorigenesis and Radiotherapy Resistance of
            Urinary Bladder Carcinoma by Stabilizing XRCC6
  JOURNAL   J Immunol Res 2021, 5975893 (2021)
   PUBMED   34966825
  REMARK    GeneRIF: TEX10 Promotes the Tumorigenesis and Radiotherapy
            Resistance of Urinary Bladder Carcinoma by Stabilizing XRCC6.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 609)
  AUTHORS   Schellenbauer A, Guilly MN, Grall R, Le Bars R, Paget V,
            Kortulewski T, Sutcu H, Mathe C, Hullo M, Biard D, Leteurtre F,
            Barroca V, Corre Y, Irbah L, Rass E, Theze B, Bertrand P, Demmers
            JAA, Guirouilh-Barbat J, Lopez BS, Chevillard S and Delic J.
  TITLE     Phospho-Ku70 induced by DNA damage interacts with RNA Pol II and
            promotes the formation of phospho-53BP1 foci to ensure optimal
            cNHEJ
  JOURNAL   Nucleic Acids Res 49 (20), 11728-11745 (2021)
   PUBMED   34718776
  REMARK    GeneRIF: Phospho-Ku70 induced by DNA damage interacts with RNA Pol
            II and promotes the formation of phospho-53BP1 foci to ensure
            optimal cNHEJ.
REFERENCE   4  (residues 1 to 609)
  AUTHORS   Sui H, Hao M, Chang W and Imamichi T.
  TITLE     The Role of Ku70 as a Cytosolic DNA Sensor in Innate Immunity and
            Beyond
  JOURNAL   Front Cell Infect Microbiol 11, 761983 (2021)
   PUBMED   34746031
  REMARK    GeneRIF: The Role of Ku70 as a Cytosolic DNA Sensor in Innate
            Immunity and Beyond.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 609)
  AUTHORS   Liang Z, Kumar V, Le Bouteiller M, Zurita J, Kenrick J, Lin SG, Lou
            J, Hu J, Ye AY, Boboila C, Alt FW and Frock RL.
  TITLE     Ku70 suppresses alternative end joining in G1-arrested progenitor B
            cells
  JOURNAL   Proc Natl Acad Sci U S A 118 (21) (2021)
   PUBMED   34006647
  REMARK    GeneRIF: Ku70 suppresses alternative end joining in G1-arrested
            progenitor B cells.
REFERENCE   6  (residues 1 to 609)
  AUTHORS   Higashiura M, Shimizu Y, Tanimoto M, Morita T and Yagura T.
  TITLE     Immunolocalization of Ku-proteins (p80/p70): localization of p70 to
            nucleoli and periphery of both interphase nuclei and metaphase
            chromosomes
  JOURNAL   Exp Cell Res 201 (2), 444-451 (1992)
   PUBMED   1639139
REFERENCE   7  (residues 1 to 609)
  AUTHORS   Griffith AJ, Craft J, Evans J, Mimori T and Hardin JA.
  TITLE     Nucleotide sequence and genomic structure analyses of the p70
            subunit of the human Ku autoantigen: evidence for a family of genes
            encoding Ku (p70)-related polypeptides
  JOURNAL   Mol Biol Rep 16 (2), 91-97 (1992)
   PUBMED   1608402
REFERENCE   8  (residues 1 to 609)
  AUTHORS   Wedrychowski A, Henzel W, Huston L, Paslidis N, Ellerson D, McRae
            M, Seong D, Howard OM and Deisseroth A.
  TITLE     Identification of proteins binding to interferon-inducible
            transcriptional enhancers in hematopoietic cells
  JOURNAL   J Biol Chem 267 (7), 4533-4540 (1992)
   PUBMED   1537839
REFERENCE   9  (residues 1 to 609)
  AUTHORS   Reeves WH and Sthoeger ZM.
  TITLE     Molecular cloning of cDNA encoding the p70 (Ku) lupus autoantigen
  JOURNAL   J Biol Chem 264 (9), 5047-5052 (1989)
   PUBMED   2466842
REFERENCE   10 (residues 1 to 609)
  AUTHORS   Chan JY, Lerman MI, Prabhakar BS, Isozaki O, Santisteban P, Kuppers
            RC, Oates EL, Notkins AL and Kohn LD.
  TITLE     Cloning and characterization of a cDNA that encodes a 70-kDa novel
            human thyroid autoantigen
  JOURNAL   J Biol Chem 264 (7), 3651-3654 (1989)
   PUBMED   2917966
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z83840.7, DA718140.1,
            DC383335.1, BU902323.1, DA647513.1 and BC001583.1.
            On Jan 10, 2014 this sequence version replaced XP_005261544.1.
            
            Summary: The p70/p80 autoantigen is a nuclear complex consisting of
            two subunits with molecular masses of approximately 70 and 80 kDa.
            The complex functions as a single-stranded DNA-dependent
            ATP-dependent helicase. The complex may be involved in the repair
            of nonhomologous DNA ends such as that required for double-strand
            break repair, transposition, and V(D)J recombination. High levels
            of autoantibodies to p70 and p80 have been found in some patients
            with systemic lupus erythematosus. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.135787.1,
                                           SRR1803613.181322.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     Protein         1..609
                     /product="X-ray repair cross-complementing protein 6
                     isoform 1"
                     /note="thyroid autoantigen 70kD (Ku antigen); thyroid
                     autoantigen 70kDa (Ku antigen); Ku autoantigen, 70kDa;
                     X-ray repair complementing defective repair in Chinese
                     hamster cells 6; ATP-dependent DNA helicase II, 70 kDa
                     subunit; CTC box binding factor 75 kDa subunit;
                     ATP-dependent DNA helicase 2 subunit 1; thyroid-lupus
                     autoantigen p70; Ku autoantigen p70 subunit; X-ray repair
                     cross-complementing protein 6; DNA repair protein XRCC6;
                     70 kDa subunit of Ku antigen; lupus Ku autoantigen protein
                     p70; 5'-dRP lyase Ku70; 5'-deoxyribose-5-phosphate lyase
                     Ku70"
                     /calculated_mol_wt=69712
     Region          1..28
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P12956.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (P12956.2)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P12956.2)"
     Site            6
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PRKDC.
                     /evidence=ECO:0000269|PubMed:10026262; propagated from
                     UniProtKB/Swiss-Prot (P12956.2)"
     Region          26..608
                     /region_name="ku70"
                     /note="ATP-dependent DNA helicase II, 70 kDa subunit
                     (ku70); TIGR00578"
                     /db_xref="CDD:273151"
     Site            27
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P12956.2)"
     Site            31
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P12956.2)"
     Site            51
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PRKDC.
                     /evidence=ECO:0000269|PubMed:9362500; propagated from
                     UniProtKB/Swiss-Prot (P12956.2)"
     Site            306
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P12956.2)"
     Site            331
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P12956.2)"
     Site            338
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P12956.2)"
     Site            455
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P12956.2)"
     Site            461
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P12956.2)"
     Site            477
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P12956.2)"
     Site            520
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P12956.2)"
     Region          536..562
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P12956.2)"
     Region          550..609
                     /region_name="Interaction with DEAF1.
                     /evidence=ECO:0000269|PubMed:22442688"
                     /note="propagated from UniProtKB/Swiss-Prot (P12956.2)"
     Site            550
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P12956.2)"
     Site            560
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P12956.2)"
     CDS             1..609
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /coded_by="NM_001288976.2:132..1961"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS14021.1"
                     /db_xref="GeneID:2547"
                     /db_xref="HGNC:HGNC:4055"
                     /db_xref="MIM:152690"
ORIGIN      
        1 msgwesyykt egdeeaeeeq eenleasgdy kysgrdslif lvdaskamfe sqsedeltpf
       61 dmsiqciqsv yiskiissdr dllavvfygt ekdknsvnfk niyvlqeldn pgakrileld
      121 qfkgqqgqkr fqdmmghgsd yslsevlwvc anlfsdvqfk mshkrimlft nednphgnds
      181 akasrartka gdlrdtgifl dlmhlkkpgg fdislfyrdi isiaededlr vhfeesskle
      241 dllrkvrake trkralsrlk lklnkdivis vgiynlvqka lkpppiklyr etnepvktkt
      301 rtfntstggl llpsdtkrsq iygsrqiile keeteelkrf ddpglmlmgf kplvllkkhh
      361 ylrpslfvyp eeslvigsst lfsallikcl ekevaalcry tprrnippyf valvpqeeel
      421 ddqkiqvtpp gfqlvflpfa ddkrkmpfte kimatpeqvg kmkaiveklr ftyrsdsfen
      481 pvlqqhfrnl ealaldlmep eqavdltlpk veamnkrlgs lvdefkelvy ppdynpegkv
      541 tkrkhdnegs gskrpkveys eeelkthisk gtlgkftvpm lkeacraygl ksglkkqell
      601 ealtkhfqd
//
LOCUS       NP_001171720            1244 aa            linear   PRI 27-DEC-2022
DEFINITION  partitioning defective 3 homolog isoform 8 [Homo sapiens].
ACCESSION   NP_001171720
VERSION     NP_001171720.1
DBSOURCE    REFSEQ: accession NM_001184791.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1244)
  AUTHORS   Zhao Y, Peng H, Liang L, Li Y, Hu X, Wang B, Xu Y and Chen S.
  TITLE     Polarity protein Par3 sensitizes breast cancer to paclitaxel by
            promoting cell cycle arrest
  JOURNAL   Breast Cancer Res Treat 192 (1), 75-87 (2022)
   PUBMED   35079981
  REMARK    GeneRIF: Polarity protein Par3 sensitizes breast cancer to
            paclitaxel by promoting cell cycle arrest.
REFERENCE   2  (residues 1 to 1244)
  AUTHORS   Tocan V, Hayase J, Kamakura S, Kohda A, Ohga S, Kohjima M and
            Sumimoto H.
  TITLE     Hepatocyte polarity establishment and apical lumen formation are
            organized by Par3, Cdc42, and aPKC in conjunction with Lgl
  JOURNAL   J Biol Chem 297 (6), 101354 (2021)
   PUBMED   34717957
  REMARK    GeneRIF: Hepatocyte polarity establishment and apical lumen
            formation are organized by Par3, Cdc42, and aPKC in conjunction
            with Lgl.
REFERENCE   3  (residues 1 to 1244)
  AUTHORS   Dadras MS, Caja L, Mezheyeuski A, Liu S, Gelabert C, Gomez-Puerto
            MC, Gallini R, Rubin CJ, Ten Dijke P, Heldin CH and Moustakas A.
  TITLE     The polarity protein Par3 coordinates positively self-renewal and
            negatively invasiveness in glioblastoma
  JOURNAL   Cell Death Dis 12 (10), 932 (2021)
   PUBMED   34642295
  REMARK    GeneRIF: The polarity protein Par3 coordinates positively
            self-renewal and negatively invasiveness in glioblastoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1244)
  AUTHORS   Indra I, Troyanovsky RB, Green KJ and Troyanovsky SM.
  TITLE     Plakophilin 3 and Par3 facilitate desmosomes' association with the
            apical junctional complex
  JOURNAL   Mol Biol Cell 32 (19), 1824-1837 (2021)
   PUBMED   34260281
  REMARK    GeneRIF: Plakophilin 3 and Par3 facilitate desmosomes' association
            with the apical junctional complex.
REFERENCE   5  (residues 1 to 1244)
  AUTHORS   Nito M, Takekoshi S, Kitatani K, Matsuzaki T, Yagasaki H, Tsuboi T,
            Nakano K, Shioyama K, Masuda R and Iwazaki M.
  TITLE     Par3 and ZO-1 Membrane Clustering is an Indicator of Poor Prognosis
            in Lung Squamous Cell Carcinoma
  JOURNAL   Tokai J Exp Clin Med 46 (2), 110-117 (2021)
   PUBMED   34216486
  REMARK    GeneRIF: Par3 and ZO-1 Membrane Clustering is an Indicator of Poor
            Prognosis in Lung Squamous Cell Carcinoma.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1244)
  AUTHORS   Ebnet K, Suzuki A, Horikoshi Y, Hirose T, Meyer Zu Brickwedde MK,
            Ohno S and Vestweber D.
  TITLE     The cell polarity protein ASIP/PAR-3 directly associates with
            junctional adhesion molecule (JAM)
  JOURNAL   EMBO J 20 (14), 3738-3748 (2001)
   PUBMED   11447115
REFERENCE   7  (residues 1 to 1244)
  AUTHORS   Suzuki A, Yamanaka T, Hirose T, Manabe N, Mizuno K, Shimizu M,
            Akimoto K, Izumi Y, Ohnishi T and Ohno S.
  TITLE     Atypical protein kinase C is involved in the evolutionarily
            conserved par protein complex and plays a critical role in
            establishing epithelia-specific junctional structures
  JOURNAL   J Cell Biol 152 (6), 1183-1196 (2001)
   PUBMED   11257119
REFERENCE   8  (residues 1 to 1244)
  AUTHORS   Noda Y, Takeya R, Ohno S, Naito S, Ito T and Sumimoto H.
  TITLE     Human homologues of the Caenorhabditis elegans cell polarity
            protein PAR6 as an adaptor that links the small GTPases Rac and
            Cdc42 to atypical protein kinase C
  JOURNAL   Genes Cells 6 (2), 107-119 (2001)
   PUBMED   11260256
REFERENCE   9  (residues 1 to 1244)
  AUTHORS   Johansson A, Driessens M and Aspenstrom P.
  TITLE     The mammalian homologue of the Caenorhabditis elegans polarity
            protein PAR-6 is a binding partner for the Rho GTPases Cdc42 and
            Rac1
  JOURNAL   J Cell Sci 113 (Pt 18), 3267-3275 (2000)
   PUBMED   10954424
REFERENCE   10 (residues 1 to 1244)
  AUTHORS   Joberty G, Petersen C, Gao L and Macara IG.
  TITLE     The cell-polarity protein Par6 links Par3 and atypical protein
            kinase C to Cdc42
  JOURNAL   Nat Cell Biol 2 (8), 531-539 (2000)
   PUBMED   10934474
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL450337.24, AL138768.23,
            AL360233.21, AL392123.12, AL390766.16 and AL160409.12.
            
            Summary: This gene encodes a member of the PARD protein family.
            PARD family members interact with other PARD family members and
            other proteins; they affect asymmetrical cell division and direct
            polarized cell growth. Multiple alternatively spliced transcript
            variants have been described for this gene. [provided by RefSeq,
            Oct 2011].
            
            Transcript Variant: This variant (8) lacks four alternate, in-frame
            segments and uses a different splice site, in the coding region,
            compared to variant 1. The resulting protein (isoform 8) is shorter
            when it is compared to isoform 1. This variant has also been called
            'variant e'.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB073671.1, AF467005.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1244
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p11.22-p11.21"
     Protein         1..1244
                     /product="partitioning defective 3 homolog isoform 8"
                     /note="partitioning defective 3 homolog; atypical PKC
                     isotype-specific interacting protein; PAR3-alpha; CTCL
                     tumor antigen se2-5; bazooka; par-3 partitioning defective
                     3 homolog; par-3 family cell polarity regulator alpha;
                     protein phosphatase 1, regulatory subunit 118"
                     /calculated_mol_wt=138201
     Region          2..83
                     /region_name="DUF3534"
                     /note="N-terminal of Par3 and HAL proteins; pfam12053"
                     /db_xref="CDD:432291"
     Region          228..303
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(239..242,244,296..297,300..301)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          421..500
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(426..429,431,483..484,487..488)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          531..624
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(543..546,548,601..602,605..606)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     CDS             1..1244
                     /gene="PARD3"
                     /gene_synonym="ASIP; Baz; PAR3; PAR3alpha; PARD-3; PARD3A;
                     PPP1R118; SE2-5L16; SE2-5LT1; SE2-5T2"
                     /coded_by="NM_001184791.2:302..4036"
                     /note="isoform 8 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS53509.1"
                     /db_xref="GeneID:56288"
                     /db_xref="HGNC:HGNC:16051"
                     /db_xref="MIM:606745"
ORIGIN      
        1 mkvtvcfgrt rvvvpcgdgh mkvfsliqqa vtryrkaiak dpnywiqvhr lehgdggild
       61 lddilcdvad dkdrlvavfd eqdphhggdg tsasstgtqs peifgselgt nnvsafqpyq
      121 atseievtps vlranmplhv rrssdpalig lstsvsdsnf sseepsrknp trwsttagfl
      181 kqntagspkt cdrkdedgte ednsrvepvg hadtglehip nfslddmvkl vevpndggpl
      241 gihvvpfsar ggrtlgllvk rlekggkaeh enlfrendci vrindgdlrn rrfeqaqhmf
      301 rqamrtpiiw fhvvpaanke qyeqlsqsek nnyyssrfsp dsqyidnrsv nsaglhtvqr
      361 aprlnhppeq idshsrlphs ahpsgkppsa pasapqnvfs ttvssgyntk kigkrlniql
      421 kkgteglgfs itsrdvtigg sapiyvknil prgaaiqdgr lkagdrliev ngvdlvgksq
      481 eevvsllrst kmegtvsllv frqedafhpr elkaedediv ltpdgtrefl tfevplndsg
      541 saglgvsvkg nrskenhadl gifvksiing gaaskdgrlr vndqliavng esllgktnqd
      601 ametlrrsms tegnkrgmiq livarriskc nelkspgspp gpelpietal ddrerrishs
      661 lysgieglde spsrnaalsr imgkyqlspt vnmpqddtvi ieddrlpvlp phlsdqssss
      721 shddvgfvta dagtwakaai sdsadcslsp dvdpvlafqr egfgrqsmse krtkqfsdas
      781 qldfvktrks ksmdlgssps rdvgpslglk ksssleslqt avaevtlngd ipfhrprpri
      841 irgrgcnesf raaidksydk pavddddegm etleedtees srsgresvst asdqpshsle
      901 rqmngnqekg dktdrkkdkt gkekkkdrdk ekdkmkakkg mlkglgdmfr iqaktrefre
      961 rqarerdyae iqdfhrtfgc ddelmyggvs syegsmalna rpqspreghm mdalyaqvkk
     1021 prnskpspvd snrstpsnhd riqrlrqefq qakqdedved rrrtysfeqp wpnarpatqs
     1081 grhsvsvevq mqrqrqeere ssqqaqrqys slprqsrkna ssvsqdsweq nyspgegfqs
     1141 akenpryssy qgsrngylgg hgfnarvmle tqellrqeqr rkeqqmkkqp psegpsnyds
     1201 ykkvqdpsya ppkgpfrqdv ppspsqvarl nrlqtpekgr pfys
//
LOCUS       NP_001305750             219 aa            linear   PRI 27-DEC-2022
DEFINITION  glutamine amidotransferase-like class 1 domain-containing protein 1
            isoform 4 precursor [Homo sapiens].
ACCESSION   NP_001305750
VERSION     NP_001305750.1
DBSOURCE    REFSEQ: accession NM_001318821.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 219)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC364167.1, BC143418.1, AP006621.1 and BU625376.1.
            
            Transcript Variant: This variant (4) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (4) is
            shorter at the C-terminus compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.248011.1,
                                           SRR1163655.330610.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..219
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     Protein         1..219
                     /product="glutamine amidotransferase-like class 1
                     domain-containing protein 1 isoform 4 precursor"
                     /note="parkinson disease 7 domain-containing protein 1;
                     Parkinson disease 7 domain containing 1; glutamine
                     amidotransferase-like class 1 domain-containing protein 1;
                     glutamine amidotransferase like class 1 domain containing
                     1"
                     /calculated_mol_wt=19291
     sig_peptide     1..38
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NB37.1)"
                     /calculated_mol_wt=3897
     Region          12..216
                     /region_name="GATase1_Hsp31_like"
                     /note="Type 1 glutamine amidotransferase (GATase1)-like
                     domain found in proteins similar to Escherichia coli Hsp31
                     protein; cd03141"
                     /db_xref="CDD:153235"
     Site            order(125..126,156)
                     /site_type="active"
                     /note="potential catalytic triad [active]"
                     /db_xref="CDD:153235"
     Site            125
                     /site_type="active"
                     /note="conserved cys residue [active]"
                     /db_xref="CDD:153235"
     Site            201
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NB37.1)"
     CDS             1..219
                     /gene="GATD1"
                     /gene_synonym="PDDC1"
                     /coded_by="NM_001318821.2:26..685"
                     /note="isoform 4 precursor is encoded by transcript
                     variant 4"
                     /db_xref="GeneID:347862"
                     /db_xref="HGNC:HGNC:26616"
ORIGIN      
        1 maserlpnrp acllvasgaa egvsaqsflh cftmastafn lqvatpggka mefvdvtesn
       61 arwvqdfrlk ayaspakles idgaryhall ipscpgaltd lassgslari lqhfhseskp
      121 icavghgvaa lccatnedrs wvfdsysltg psvcelvrap gfarlplvve dfvkdsgacf
      181 sasepdavhv vldrhlvtgq nasstvpavq nllflcgsr
//
LOCUS       NP_775902                402 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger protein 547 [Homo sapiens].
ACCESSION   NP_775902
VERSION     NP_775902.2
DBSOURCE    REFSEQ: accession NM_173631.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 402)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC003002.1 and BC042681.1.
            On Oct 30, 2003 this sequence version replaced NP_775902.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC042681.1, AL832545.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000282282.4/ ENSP00000282282.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..402
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     Protein         1..402
                     /product="zinc finger protein 547"
                     /note="Trafficking protein particle complex subunit 2B;
                     MBP-1-interacting protein 2A"
                     /calculated_mol_wt=45825
     Region          11..51
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          <156..314
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          158..178
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          186..206
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(191,193,195,197..198,201..202,205,219,221,225..226,
                     229..230,233,247,249,251,253..254,257..258,261)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          214..234
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          242..262
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          270..290
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          298..318
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(303,305,307,309..310,313..314,317,331,333,337..338,
                     341..342,345,359,361,363,365..366,369..370,373)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          311..334
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          322..>374
                     /region_name="SUF4-like"
                     /note="N-terminal domain of Oryza sativa transcription
                     factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana
                     SUF4 (AtSUF4), and similar proteins; cd20908"
                     /db_xref="CDD:411020"
     Region          326..347
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          326..346
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(331,337,344,346,353,360)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411020"
     Region          354..374
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          354..374
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          380..400
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..402
                     /gene="ZNF547"
                     /gene_synonym="MIP-2A; SEDLP1; TRAPPC2.19; TRAPPC2B;
                     TRAPPC2P1"
                     /coded_by="NM_173631.4:166..1374"
                     /db_xref="CCDS:CCDS33131.1"
                     /db_xref="GeneID:284306"
                     /db_xref="HGNC:HGNC:26432"
ORIGIN      
        1 maemnpaqgh vvfedvaiyf sqeewghlde aqrllyrdvm lenlallssl gcchgaedee
       61 aplepgvsvg vsqvmapkpc lstqntqpce tcssllkdil rlaehdgthp eqglytcpah
      121 lhqhqkeqir eklsrgdggr ptfvknhrvh magktflcse cgkafshkhk lsdhqkihtg
      181 ertykcskcg ilfmerstln rhqrthtger pyecnecgka flckshlvrh qtihsgerpy
      241 ecsecgklfm wsstlithqr vhtgkrpygc secgkffkcn snlfrhyrih tgkrsygcse
      301 cgkffmerst lsrhqrvhtg erpyecnecg kffslksvli qhqrvhtger pyecsecgka
      361 fltkshlich qtvhtaakqc secgkffryn stllrhqkvh tg
//
LOCUS       NP_055833               2465 aa            linear   PRI 29-DEC-2022
DEFINITION  protein dopey-1 isoform a [Homo sapiens].
ACCESSION   NP_055833
VERSION     NP_055833.2
DBSOURCE    REFSEQ: accession NM_015018.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2465)
  AUTHORS   Lend AK, Kazantseva A, Kivil A, Valvere V and Palm K.
  TITLE     Diagnostic significance of alternative splice variants of REST and
            DOPEY1 in the peripheral blood of patients with breast cancer
  JOURNAL   Tumour Biol 36 (4), 2473-2480 (2015)
   PUBMED   25424701
  REMARK    GeneRIF: Assessment of REST-N50 and DOPEY1v2 may prove useful in
            diagnostic blood tests of breast cancer. REST-N50 shows a high
            potential as a blood biomarker for evaluating the effectiveness of
            therapy in the neoadjuvant setting.
REFERENCE   2  (residues 1 to 2465)
  AUTHORS   Gillingham AK, Whyte JR, Panic B and Munro S.
  TITLE     Mon2, a relative of large Arf exchange factors, recruits Dop1 to
            the Golgi apparatus
  JOURNAL   J Biol Chem 281 (4), 2273-2280 (2006)
   PUBMED   16301316
REFERENCE   3  (residues 1 to 2465)
  AUTHORS   Pascon RC and Miller BL.
  TITLE     Morphogenesis in Aspergillus nidulans requires Dopey (DopA), a
            member of a novel family of leucine zipper-like proteins conserved
            from yeast to humans
  JOURNAL   Mol Microbiol 36 (6), 1250-1264 (2000)
   PUBMED   10931277
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL139333.10 and AL121716.16.
            On Sep 11, 2003 this sequence version replaced NP_055833.1.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the shorter protein (isoform a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX648667.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000349129.7/ ENSP00000195654.3
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2465
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.1"
     Protein         1..2465
                     /product="protein dopey-1 isoform a"
                     /note="homolog of yeast DOP1; protein dopey-1; dopey
                     family member 1"
                     /calculated_mol_wt=277225
     Region          11..294
                     /region_name="Dopey_N"
                     /note="Dopey, N-terminal; pfam04118"
                     /db_xref="CDD:427723"
     Region          559..600
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JWR5.1)"
     Region          625..646
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JWR5.1)"
     Region          705..733
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JWR5.1)"
     Site            1266
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BL99; propagated from
                     UniProtKB/Swiss-Prot (Q5JWR5.1)"
     Region          1282..1315
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JWR5.1)"
     Region          <2091..2327
                     /region_name="Dopey_N"
                     /note="Dopey, N-terminal; cl04407"
                     /db_xref="CDD:446380"
     CDS             1..2465
                     /gene="DOP1A"
                     /gene_synonym="dJ202D23.2; DOP1; DOPEY1; KIAA1117"
                     /coded_by="NM_015018.4:256..7653"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS4996.1"
                     /db_xref="GeneID:23033"
                     /db_xref="HGNC:HGNC:21194"
                     /db_xref="MIM:616823"
ORIGIN      
        1 mnteelells dskyrnyvaa idkalknfey ssewadlisa lgklnkvlqn nakyqvvpkk
       61 ltigkrlaqc lhpalpggvh rkaletyeii fkiigpkrla kdlflyssgl fpllanaams
      121 vkptllslye iyylplgktl kpglqglltg ilpgleegse yyertnmlle kvaaavdqsa
      181 fysalwgsll tspavrlpgi tyvlahlnrk lsmedqlyii gsdielmvea vstsvqdssv
      241 lvqrstldli lfcfpfhmsq atrpdmiril saalhvvlrr dmslnrrlya wllgfdnnga
      301 iigprstrhs npeehatyyf ttfskellvq amvgilqvng fgeentlmqd lkpfrilisl
      361 ldkpelgpvi ledvlievfr tlysqckael dlqteppfsk dhaqlssklr enkktaelik
      421 tanllfnsfe pyymwdyvar wfeeccrrtl hvrlqigpgd sndsselqlt nfcllvdfll
      481 divslptrsm rvlcqetyie iqtehlpqll lrmisaltsh lqtlhlselt dslrlcskil
      541 skvqppllsa stggvlqfps gqnnsvkewe dkkvssvshe nptevfedge nppssrsses
      601 gftefiqyqa drtddidrel segqgaaaip igstssetet astvgseeti iqtpsvvtqg
      661 tatrsrktaq ktamqccley vqqfltrlin lyiiqnnsfs qslatehqgd lgreqgetsk
      721 wdrnsqgdvk ekniskqkts keylsaflaa cqlflecssf pvyiaegnht selrseklet
      781 dcehvqppqw lqtlmnacsq asdfsvqsva islvmdlvgl tqsvamvtge ninsvepaqp
      841 lspnqgrvav virppltqgn lryiaektef fkhvaltlwd qlgdgtpqhh qksvelfyql
      901 hnlvpsssic edvisqqlth kdkkirmeah akfavlwhlt rdlhinksss fvrsfdrslf
      961 imldslnsld gstssvgqaw lnqvlqrhdi arvlepllll llhpktqrvs vqrvqaeryw
     1021 nkspcypgee sdkhfmqnfa csnvsqvqli tskgngekpl tmdeienfsl tvnplsdrls
     1081 llstssetip mvvsdfdlpd qqieilqssd sgcsqssagd nlsyevdpet vnaqedsqmp
     1141 kesspdddvq qvvfdlickv vsglevesas vtsqleieam ppkcsdidpd eetikiedds
     1201 iqqsqnalls nessqflsvs aegghecvan gisrnssspc isgtthtlhd ssvasietks
     1261 rqrshssiqf sfkeklsekv seketivkes gkqpgakpkv klarkkdddk kkssneklkq
     1321 tsvffsdgld lenwyscgeg diseiesdmg spgsrkspnf nihplyqhvl lylqlydssr
     1381 tlyafsaika ilktnpiafv naisttsvnn aytpqlsllq nllarhrisv mgkdfyship
     1441 vdsnhnfrss myieilislc lyymrshypt hvkvtaqdli gnrnmqmmsi eiltllftel
     1501 akviessakg fpsfisdmls kckvqkvilh cllssifsaq kwhsekmagk nlvaveegfs
     1561 edslinfsed efdngstlqs qllkvlqrli vlehrvmtip eenetgfdfv vsdlehisph
     1621 qpmtslqylh aqpitcqgmf lcaviralhq hcackmhpqw iglitstlpy mgkvlqrvvv
     1681 svtlqlcrnl dnliqqykye tglsdsrplw masiippdmi ltllegitai ihyclldptt
     1741 qyhqllvsvd qkhlfearsg ilsilhmims svtllwsilh qadssekmti aasaslttin
     1801 lgatknlrqq ilellgpism nhgvhfmaai afvwnerrqn ktttrtkvip aaseeqlllv
     1861 elvrsisvmr aetviqtvke vlkqppaiak dkkhlslevc mlqffyayiq ripvpnlvds
     1921 wasllillkd siqlslpapg qflilgvlne fimknpslen kkdqrdlqdv thkivdaiga
     1981 iagssleqtt wlrrnlevkp spkimvdgtn lesdvedmls pametanitp svysvhaltl
     2041 lsevlahlld mvfysdeker vipllvnimh yvvpylrnhs ahnapsyrac vqllsslsgy
     2101 qytrrawkke afdlfmdpsf fqmdascvnh wraimdnlmt hdkttfrdlm trvavaqsss
     2161 lnlfanrdve leqramllkr lafaifssei dqyqkylpdi qerlveslrl pqvptlhsqv
     2221 flffrvlllr mspqhltslw ptmitelvqv fllmeqelta dedisrtsgp svaglettyt
     2281 ggngfstsyn sqrwlnlyls ackfldlala lpsenlpqfq myrwafipea sddsglevrr
     2341 qgihqrefkp yvvrlakllr krakknpeed nsgrtlgwep ghllltictv rsmeqllpff
     2401 nvlsqvfnsk vtsrcgghsg spilysnafp nkdmklenhk pcsskarqki eemvekdfle
     2461 gmikt
//
LOCUS       NP_057174                266 aa            linear   PRI 29-DEC-2022
DEFINITION  RNA-binding protein 7 isoform b [Homo sapiens].
ACCESSION   NP_057174
VERSION     NP_057174.1
DBSOURCE    REFSEQ: accession NM_016090.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 266)
  AUTHORS   Fukushima K and Akira S.
  TITLE     Novel insights into the pathogenesis of lung fibrosis: the
            RBM7-NEAT1-CXCL12-SatM axis at fibrosis onset
  JOURNAL   Int Immunol 33 (12), 659-663 (2021)
   PUBMED   34165514
  REMARK    GeneRIF: Novel insights into the pathogenesis of lung fibrosis: the
            RBM7-NEAT1-CXCL12-SatM axis at fibrosis onset.
            Review article
REFERENCE   2  (residues 1 to 266)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 266)
  AUTHORS   Bugai A, Quaresma AJC, Friedel CC, Lenasi T, Duster R, Sibley CR,
            Fujinaga K, Kukanja P, Hennig T, Blasius M, Geyer M, Ule J, Dolken
            L and Barboric M.
  TITLE     P-TEFb Activation by RBM7 Shapes a Pro-survival Transcriptional
            Response to Genotoxic Stress
  JOURNAL   Mol Cell 74 (2), 254-267 (2019)
   PUBMED   30824372
  REMARK    GeneRIF: interfering with the axis of RBM7 and P-TEFb provokes
            cellular hypersensitivity to DNA-damage-inducing agents due to
            activation of apoptosis. Our work uncovers the importance of
            stress-dependent stimulation of Pol II pause release, which enables
            a pro-survival transcriptional response that is crucial for cell
            fate upon genotoxic insult.
REFERENCE   4  (residues 1 to 266)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 266)
  AUTHORS   Falk S, Finogenova K, Melko M, Benda C, Lykke-Andersen S, Jensen TH
            and Conti E.
  TITLE     Structure of the RBM7-ZCCHC8 core of the NEXT complex reveals
            connections to splicing factors
  JOURNAL   Nat Commun 7, 13573 (2016)
   PUBMED   27905398
  REMARK    GeneRIF: a proline-rich segment of ZCCHC8 as the interaction site
            for the RNA-recognition motif (RRM) of RBM7 and present the crystal
            structure of the corresponding complex at 2.0 A resolution.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 266)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   7  (residues 1 to 266)
  AUTHORS   Hegele A, Kamburov A, Grossmann A, Sourlis C, Wowro S, Weimann M,
            Will CL, Pena V, Luhrmann R and Stelzl U.
  TITLE     Dynamic protein-protein interaction wiring of the human spliceosome
  JOURNAL   Mol Cell 45 (4), 567-580 (2012)
   PUBMED   22365833
REFERENCE   8  (residues 1 to 266)
  AUTHORS   Lubas M, Christensen MS, Kristiansen MS, Domanski M, Falkenby LG,
            Lykke-Andersen S, Andersen JS, Dziembowski A and Jensen TH.
  TITLE     Interaction profiling identifies the human nuclear exosome
            targeting complex
  JOURNAL   Mol Cell 43 (4), 624-637 (2011)
   PUBMED   21855801
REFERENCE   9  (residues 1 to 266)
  AUTHORS   Gustafson MP, Welcker M, Hwang HC and Clurman BE.
  TITLE     Zcchc8 is a glycogen synthase kinase-3 substrate that interacts
            with RNA-binding proteins
  JOURNAL   Biochem Biophys Res Commun 338 (3), 1359-1367 (2005)
   PUBMED   16263084
REFERENCE   10 (residues 1 to 266)
  AUTHORS   Guo TB, Boros LG, Chan KC, Hikim AP, Hudson AP, Swerdloff RS,
            Mitchell AP and Salameh WA.
  TITLE     Spermatogenetic expression of RNA-binding motif protein 7, a
            protein that interacts with splicing factors
  JOURNAL   J Androl 24 (2), 204-214 (2003)
   PUBMED   12634307
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC034381.1 and AP002373.3.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site, compared to variant 1. The encoded isoform (b) is
            shorter than isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.167239.1,
                                           SRR14038194.2762076.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..266
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.2"
     Protein         1..266
                     /product="RNA-binding protein 7 isoform b"
                     /note="RNA-binding protein 7"
                     /calculated_mol_wt=30372
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylglycine.
                     /evidence=ECO:0000269|PubMed:25489052; propagated from
                     UniProtKB/Swiss-Prot (Q9Y580.1)"
     Region          9..83
                     /region_name="RRM_RBM7"
                     /note="RNA recognition motif (RRM) found in vertebrate
                     RNA-binding protein 7 (RBM7); cd12592"
                     /db_xref="CDD:410005"
     Region          <10..>238
                     /region_name="hnRNP-R-Q"
                     /note="heterogeneous nuclear ribonucleoprotein R, Q
                     family; TIGR01648"
                     /db_xref="CDD:273732"
     Region          25..35
                     /region_name="ZCCHC8 binding.
                     /evidence=ECO:0000269|PubMed:27905398,
                     ECO:0007744|PDB:5LXR, ECO:0007744|PDB:5LXY"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y580.1)"
     Region          59..76
                     /region_name="ZCCHC8 binding.
                     /evidence=ECO:0000269|PubMed:27905398,
                     ECO:0007744|PDB:5LXR, ECO:0007744|PDB:5LXY"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y580.1)"
     Region          90..118
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y580.1)"
     Site            136
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CQT2; propagated from
                     UniProtKB/Swiss-Prot (Q9Y580.1)"
     Site            137
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CQT2; propagated from
                     UniProtKB/Swiss-Prot (Q9Y580.1)"
     Site            152
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q9Y580.1)"
     Region          162..266
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y580.1)"
     Site            204
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9Y580.1)"
     CDS             1..266
                     /gene="RBM7"
                     /coded_by="NM_016090.4:7..807"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS8370.1"
                     /db_xref="GeneID:10179"
                     /db_xref="HGNC:HGNC:9904"
                     /db_xref="MIM:612413"
ORIGIN      
        1 mgaaaaeadr tlfvgnletk vteellfelf hqagpvikvk ipkdkdgkpk qfafvnfkhe
       61 vsvpyamnll ngiklygrpi kiqfrsgssh apqdvslsyp qhhvgnsspt stspsryert
      121 mdnmtssaqi iqrsfsspen fqrqavmnsa lrqmsyggkf gsspldqsgf spsvqshshs
      181 fnqssssqwr qgtpssqrkv rmnsypylad rhysreqryt dhgsdhhyrg krddffyedr
      241 nhddwshdyd nrrdssrdgk wrssrh
//
LOCUS       NP_997187                361 aa            linear   PRI 29-DEC-2022
DEFINITION  muscleblind-like protein 2 isoform 3 [Homo sapiens].
ACCESSION   NP_997187
VERSION     NP_997187.1
DBSOURCE    REFSEQ: accession NM_207304.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 361)
  AUTHORS   Cai J, Wang N, Lin G, Zhang H, Xie W, Zhang Y and Xu N.
  TITLE     MBNL2 Regulates DNA Damage Response via Stabilizing p21
  JOURNAL   Int J Mol Sci 22 (2), 783 (2021)
   PUBMED   33466733
  REMARK    GeneRIF: MBNL2 Regulates DNA Damage Response via Stabilizing p21.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 361)
  AUTHORS   Zhao A, Li Y, Niu M, Li G, Luo N, Zhou L, Kang W and Liu J.
  TITLE     SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with
            Parkinson's disease in southern Chinese population
  JOURNAL   J Cell Mol Med 24 (15), 8744-8752 (2020)
   PUBMED   32652860
  REMARK    GeneRIF: SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated
            with Parkinson's disease in southern Chinese population.
REFERENCE   3  (residues 1 to 361)
  AUTHORS   Fischer S, Di Liddo A, Taylor K, Gerhardus JS, Sobczak K, Zarnack K
            and Weigand JE.
  TITLE     Muscleblind-like 2 controls the hypoxia response of cancer cells
  JOURNAL   RNA 26 (5), 648-663 (2020)
   PUBMED   32127384
  REMARK    GeneRIF: MBNL2 induction was critical for hypoxia adaptation by
            controlling the transcript abundance of hypoxia response genes,
            such as vascular endothelial growth factor A (VEGFA) MBNL2
            depletion reduced the proliferation and migration of cancer cells,
            demonstrating an important role of MBNL2 as cancer driver.
REFERENCE   4  (residues 1 to 361)
  AUTHORS   Cerro-Herreros E, Sabater-Arcis M, Fernandez-Costa JM, Moreno N,
            Perez-Alonso M, Llamusi B and Artero R.
  TITLE     miR-23b and miR-218 silencing increase Muscleblind-like expression
            and alleviate myotonic dystrophy phenotypes in mammalian models
  JOURNAL   Nat Commun 9 (1), 2482 (2018)
   PUBMED   29946070
  REMARK    GeneRIF: Functional depletion of the alternative splicing factors
            Muscleblind-like (MBNL 1 and 2) is at the basis of the
            neuromuscular disease myotonic dystrophy type 1 (DM1). Here, we
            screen for miRNAs that regulate MBNL1 and MBNL2 in HeLa cells. We
            thus identify miR-23b and miR-218, and confirm that they
            downregulate MBNL proteins in this cell line.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 361)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (residues 1 to 361)
  AUTHORS   Paul S, Dansithong W, Kim D, Rossi J, Webster NJ, Comai L and Reddy
            S.
  TITLE     Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in
            DM1-associated aberrant IR splicing
  JOURNAL   EMBO J 25 (18), 4271-4283 (2006)
   PUBMED   16946708
REFERENCE   7  (residues 1 to 361)
  AUTHORS   Adereth Y, Dammai V, Kose N, Li R and Hsu T.
  TITLE     RNA-dependent integrin alpha3 protein localization regulated by the
            Muscleblind-like protein MLP1
  JOURNAL   Nat Cell Biol 7 (12), 1240-1247 (2005)
   PUBMED   16273094
  REMARK    Erratum:[Nat Cell Biol. 2006 Jan;8(1):100]
REFERENCE   8  (residues 1 to 361)
  AUTHORS   Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS and Cooper TA.
  TITLE     Muscleblind proteins regulate alternative splicing
  JOURNAL   EMBO J 23 (15), 3103-3112 (2004)
   PUBMED   15257297
  REMARK    GeneRIF: MBNL proteins promote opposite splicing patterns for
            cardiac troponin T and insulin receptor alternative exons
REFERENCE   9  (residues 1 to 361)
  AUTHORS   Christian SL, McDonough J, Liu Cy CY, Shaikh S, Vlamakis V, Badner
            JA, Chakravarti A and Gershon ES.
  TITLE     An evaluation of the assembly of an approximately 15-Mb region on
            human chromosome 13q32-q33 linked to bipolar disorder and
            schizophrenia
  JOURNAL   Genomics 79 (5), 635-656 (2002)
   PUBMED   11991713
REFERENCE   10 (residues 1 to 361)
  AUTHORS   Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS
            and Brook JD.
  TITLE     Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with
            nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
  JOURNAL   Hum Mol Genet 11 (7), 805-814 (2002)
   PUBMED   11929853
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161430.19 and AL442067.16.
            
            Summary: This gene is a member of the muscleblind protein family
            which was initially described in Drosophila melanogaster. This gene
            encodes a C3H-type zinc finger protein that modulates alternative
            splicing of pre-mRNAs. Muscleblind proteins bind specifically to
            expanded dsCUG RNA but not to normal size CUG repeats and may
            thereby play a role in the pathophysiology of myotonic dystrophy.
            Several alternatively spliced transcript variants have been
            described but the full-length natures of only some have been
            determined. [provided by RefSeq, Mar 2012].
            
            Transcript Variant: This variant (3) lacks two exons in the 3'
            coding region, which results in a frameshift, compared to variant
            1. It encodes isoform 3 which has a shorter and distinct C-terminus
            compared to isoform 1. Variants 3 and 7-14 all encode the same
            isoform (3).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853566.7908.1,
                                           SRR11853564.8055.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..361
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.1"
     Protein         1..361
                     /product="muscleblind-like protein 2 isoform 3"
                     /note="muscleblind-like protein 2; muscleblind-like
                     protein 1; muscleblind-like protein-like 39;
                     muscleblind-like 2"
                     /calculated_mol_wt=39225
     Region          17..40
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     Region          178..202
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     CDS             1..361
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /coded_by="NM_207304.3:804..1889"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS9483.1"
                     /db_xref="GeneID:10150"
                     /db_xref="HGNC:HGNC:16746"
                     /db_xref="MIM:607327"
ORIGIN      
        1 malnvapvrd tkwltlevcr qfqrgtcsrs deeckfahpp kscqvengrv iacfdslkgr
       61 csrenckylh ppthlktqle ingrnnliqq ktaaamlaqq mqfmfpgtpl hpvptfpvgp
      121 aigtntaisf apylapvtpg vglvpteilp ttpvivpgsp pvtvpgstat qkllrtdkle
      181 vcrefqrgnc argetdcrfa hpadstmidt sdntvtvcmd yikgrcmrek ckyfhppahl
      241 qakikaaqhq anqaavaaqa aaaaatvmaf ppgalhplpk rqaleksngt savfnpsvlh
      301 yqqaltsaql qqhaafiptd nseiisrngm ecqesalrit khcyctyypv sssielpqta
      361 c
//
LOCUS       NP_001070826             575 aa            linear   PRI 29-DEC-2022
DEFINITION  dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform 2
            [Homo sapiens].
ACCESSION   NP_001070826
VERSION     NP_001070826.1
DBSOURCE    REFSEQ: accession NM_001077358.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 575)
  AUTHORS   Faja F, Finocchi F, Carlini T, Rizzo F, Pallotti F, Spaziani M,
            Balercia G, Lenzi A, Paoli D and Lombardo F.
  TITLE     PDE11A gene polymorphism in testicular cancer: sperm parameters and
            hormonal profile
  JOURNAL   J Endocrinol Invest 44 (10), 2273-2284 (2021)
   PUBMED   33661511
  REMARK    GeneRIF: PDE11A gene polymorphism in testicular cancer: sperm
            parameters and hormonal profile.
REFERENCE   2  (residues 1 to 575)
  AUTHORS   Qin W, Zhou A, Zuo X, Jia L, Li F, Wang Q, Li Y, Wei Y, Jin H,
            Cruchaga C, Benitez BA and Jia J.
  TITLE     Exome sequencing revealed PDE11A as a novel candidate gene for
            early-onset Alzheimer's disease
  JOURNAL   Hum Mol Genet 30 (9), 811-822 (2021)
   PUBMED   33835157
  REMARK    GeneRIF: Exome sequencing revealed PDE11A as a novel candidate gene
            for early-onset Alzheimer's disease.
REFERENCE   3  (residues 1 to 575)
  AUTHORS   Ohlsson T, Lindgren A, Engstrom G, Jern C and Melander O.
  TITLE     A stop-codon of the phosphodiesterase 11A gene is associated with
            elevated blood pressure and measures of obesity
  JOURNAL   J Hypertens 34 (3), 445-451 (2016)
   PUBMED   26820475
  REMARK    GeneRIF: One percent of the Swedish population carries a PDE11A
            loss-of-function mutation which is associated with elevated BP,
            abdominal obesity, and risk of ischemic stroke.
REFERENCE   4  (residues 1 to 575)
  AUTHORS   Pathak A, Stewart DR, Faucz FR, Xekouki P, Bass S, Vogt A, Zhang X,
            Boland J, Yeager M, Loud JT, Nathanson KL, McGlynn KA, Stratakis
            CA, Greene MH and Mirabello L.
  TITLE     Rare inactivating PDE11A variants associated with testicular germ
            cell tumors
  JOURNAL   Endocr Relat Cancer 22 (6), 909-917 (2015)
   PUBMED   26459559
  REMARK    GeneRIF: Testicular germ cell tumors had 55 PDE11A variants: 20
            missense (10 new, 9 in transcript variant 4, 1 in transcript
            variant 3), 4 splice-site, 2 nonsense, 7 synonymous, and 22
            intronic.  p.F258Y, p.G291R, p.V820M, p.R545X, and p.K568R were
            only in cases.
REFERENCE   5  (residues 1 to 575)
  AUTHORS   den Hoed M, Eijgelsheim M, Esko T, Brundel BJ, Peal DS, Evans DM,
            Nolte IM, Segre AV, Holm H, Handsaker RE, Westra HJ, Johnson T,
            Isaacs A, Yang J, Lundby A, Zhao JH, Kim YJ, Go MJ, Almgren P,
            Bochud M, Boucher G, Cornelis MC, Gudbjartsson D, Hadley D, van der
            Harst P, Hayward C, den Heijer M, Igl W, Jackson AU, Kutalik Z,
            Luan J, Kemp JP, Kristiansson K, Ladenvall C, Lorentzon M,
            Montasser ME, Njajou OT, O'Reilly PF, Padmanabhan S, St Pourcain B,
            Rankinen T, Salo P, Tanaka T, Timpson NJ, Vitart V, Waite L,
            Wheeler W, Zhang W, Draisma HH, Feitosa MF, Kerr KF, Lind PA,
            Mihailov E, Onland-Moret NC, Song C, Weedon MN, Xie W, Yengo L,
            Absher D, Albert CM, Alonso A, Arking DE, de Bakker PI, Balkau B,
            Barlassina C, Benaglio P, Bis JC, Bouatia-Naji N, Brage S, Chanock
            SJ, Chines PS, Chung M, Darbar D, Dina C, Dorr M, Elliott P, Felix
            SB, Fischer K, Fuchsberger C, de Geus EJ, Goyette P, Gudnason V,
            Harris TB, Hartikainen AL, Havulinna AS, Heckbert SR, Hicks AA,
            Hofman A, Holewijn S, Hoogstra-Berends F, Hottenga JJ, Jensen MK,
            Johansson A, Junttila J, Kaab S, Kanon B, Ketkar S, Khaw KT,
            Knowles JW, Kooner AS, Kors JA, Kumari M, Milani L, Laiho P,
            Lakatta EG, Langenberg C, Leusink M, Liu Y, Luben RN, Lunetta KL,
            Lynch SN, Markus MR, Marques-Vidal P, Mateo Leach I, McArdle WL,
            McCarroll SA, Medland SE, Miller KA, Montgomery GW, Morrison AC,
            Muller-Nurasyid M, Navarro P, Nelis M, O'Connell JR, O'Donnell CJ,
            Ong KK, Newman AB, Peters A, Polasek O, Pouta A, Pramstaller PP,
            Psaty BM, Rao DC, Ring SM, Rossin EJ, Rudan D, Sanna S, Scott RA,
            Sehmi JS, Sharp S, Shin JT, Singleton AB, Smith AV, Soranzo N,
            Spector TD, Stewart C, Stringham HM, Tarasov KV, Uitterlinden AG,
            Vandenput L, Hwang SJ, Whitfield JB, Wijmenga C, Wild SH, Willemsen
            G, Wilson JF, Witteman JC, Wong A, Wong Q, Jamshidi Y, Zitting P,
            Boer JM, Boomsma DI, Borecki IB, van Duijn CM, Ekelund U, Forouhi
            NG, Froguel P, Hingorani A, Ingelsson E, Kivimaki M, Kronmal RA,
            Kuh D, Lind L, Martin NG, Oostra BA, Pedersen NL, Quertermous T,
            Rotter JI, van der Schouw YT, Verschuren WM, Walker M, Albanes D,
            Arnar DO, Assimes TL, Bandinelli S, Boehnke M, de Boer RA, Bouchard
            C, Caulfield WL, Chambers JC, Curhan G, Cusi D, Eriksson J,
            Ferrucci L, van Gilst WH, Glorioso N, de Graaf J, Groop L,
            Gyllensten U, Hsueh WC, Hu FB, Huikuri HV, Hunter DJ, Iribarren C,
            Isomaa B, Jarvelin MR, Jula A, Kahonen M, Kiemeney LA, van der
            Klauw MM, Kooner JS, Kraft P, Iacoviello L, Lehtimaki T, Lokki ML,
            Mitchell BD, Navis G, Nieminen MS, Ohlsson C, Poulter NR, Qi L,
            Raitakari OT, Rimm EB, Rioux JD, Rizzi F, Rudan I, Salomaa V, Sever
            PS, Shields DC, Shuldiner AR, Sinisalo J, Stanton AV, Stolk RP,
            Strachan DP, Tardif JC, Thorsteinsdottir U, Tuomilehto J, van
            Veldhuisen DJ, Virtamo J, Viikari J, Vollenweider P, Waeber G,
            Widen E, Cho YS, Olsen JV, Visscher PM, Willer C, Franke L, Erdmann
            J, Thompson JR, Pfeufer A, Sotoodehnia N, Newton-Cheh C, Ellinor
            PT, Stricker BH, Metspalu A, Perola M, Beckmann JS, Smith GD,
            Stefansson K, Wareham NJ, Munroe PB, Sibon OC, Milan DJ, Snieder H,
            Samani NJ and Loos RJ.
  CONSRTM   Global BPgen Consortium; CARDIoGRAM Consortium; PR GWAS Consortium;
            QRS GWAS Consortium; QT-IGC Consortium; CHARGE-AF Consortium
  TITLE     Identification of heart rate-associated loci and their effects on
            cardiac conduction and rhythm disorders
  JOURNAL   Nat Genet 45 (6), 621-631 (2013)
   PUBMED   23583979
REFERENCE   6  (residues 1 to 575)
  AUTHORS   Hetman JM, Robas N, Baxendale R, Fidock M, Phillips SC, Soderling
            SH and Beavo JA.
  TITLE     Cloning and characterization of two splice variants of human
            phosphodiesterase 11A
  JOURNAL   Proc Natl Acad Sci U S A 97 (23), 12891-12895 (2000)
   PUBMED   11050148
REFERENCE   7  (residues 1 to 575)
  AUTHORS   Yuasa K, Kotera J, Fujishige K, Michibata H, Sasaki T and Omori K.
  TITLE     Isolation and characterization of two novel phosphodiesterase
            PDE11A variants showing unique structure and tissue-specific
            expression
  JOURNAL   J Biol Chem 275 (40), 31469-31479 (2000)
   PUBMED   10906126
REFERENCE   8  (residues 1 to 575)
  AUTHORS   Fawcett L, Baxendale R, Stacey P, McGrouther C, Harrow I, Soderling
            S, Hetman J, Beavo JA and Phillips SC.
  TITLE     Molecular cloning and characterization of a distinct human
            phosphodiesterase gene family: PDE11A
  JOURNAL   Proc Natl Acad Sci U S A 97 (7), 3702-3707 (2000)
   PUBMED   10725373
REFERENCE   9  (residues 1 to 575)
  AUTHORS   Loughney K, Martins TJ, Harris EA, Sadhu K, Hicks JB, Sonnenburg
            WK, Beavo JA and Ferguson K.
  TITLE     Isolation and characterization of cDNAs corresponding to two human
            calcium, calmodulin-regulated, 3',5'-cyclic nucleotide
            phosphodiesterases
  JOURNAL   J Biol Chem 271 (2), 796-806 (1996)
   PUBMED   8557689
REFERENCE   10 (residues 1 to 575)
  AUTHORS   Beavo JA, Conti M and Heaslip RJ.
  TITLE     Multiple cyclic nucleotide phosphodiesterases
  JOURNAL   Mol Pharmacol 46 (3), 399-405 (1994)
   PUBMED   7935318
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX105579.1, AF281865.1 and
            AC073834.6.
            
            Summary: The 3',5'-cyclic nucleotides cAMP and cGMP function as
            second messengers in a wide variety of signal transduction
            pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs)
            catalyze the hydrolysis of cAMP and cGMP to the corresponding
            5'-monophosphates and provide a mechanism to downregulate cAMP and
            cGMP signaling. This gene encodes a member of the PDE protein
            superfamily. Mutations in this gene are a cause of Cushing disease
            and adrenocortical hyperplasia. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) contains a distinct 5' UTR and
            lacks an in-frame portion of the 5' coding region, compared to
            variant 4. The resulting isoform (2) has a shorter N-terminus,
            compared to isoform 4.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1968189, SAMEA1968540
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..575
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.2"
     Protein         1..575
                     /product="dual 3',5'-cyclic-AMP and -GMP phosphodiesterase
                     11A isoform 2"
                     /EC_number="3.1.4.35"
                     /EC_number="3.1.4.53"
                     /note="cAMP and cGMP cyclic nucleotide phosphodiesterase
                     11A; dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A"
                     /calculated_mol_wt=65549
     Region          44..210
                     /region_name="GAF"
                     /note="Domain present in phytochromes and cGMP-specific
                     phosphodiesterases; smart00065"
                     /db_xref="CDD:214500"
     Region          305..540
                     /region_name="PDEase_I"
                     /note="3'5'-cyclic nucleotide phosphodiesterase;
                     pfam00233"
                     /db_xref="CDD:425542"
     Site            order(310,346..347,458)
                     /site_type="other"
                     /note="Zn2+ binding site [ion binding]"
                     /db_xref="CDD:238032"
     Site            347
                     /site_type="other"
                     /note="Mg2+ binding site [ion binding]"
                     /db_xref="CDD:238032"
     CDS             1..575
                     /gene="PDE11A"
                     /gene_synonym="PPNAD2"
                     /coded_by="NM_001077358.2:134..1861"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS46459.1"
                     /db_xref="GeneID:50940"
                     /db_xref="HGNC:HGNC:8773"
                     /db_xref="MIM:604961"
ORIGIN      
        1 mqmylpfcgi aisnaqlfaa srkeyersra llevvndlfe eqtdlekivk kimhraqtll
       61 kcercsvlll ediespvvkf tksfelmspk csadaensfk esmekssysd wlinnsiael
      121 vastglpvni sdayqdprfd aeadqisgfh irsvlcvpiw nsnhqiigva qvlnrldgkp
      181 fddadqrlfe afvifcglgi nntimydqvk kswakqsval dvlsyhatcs kaevdkfkaa
      241 niplvselai ddihfddfsl dvdamitaal rmfmelgmvq kfkidyetlc rwlltvrkny
      301 rmvlyhnwrh afnvcqlmfa mlttagfqdi lteveilavi vgclchdldh rgtnnafqak
      361 sgsalaqlyg tsatlehhhf nhavmilqse ghnifanlss keysdlmqll kqsilatdlt
      421 lyferrteff elvskgeydw niknhrdifr smlmtacdlg avtkpweisr qvaelvtsef
      481 feqgdrerle lkltpsaifd rnrkdelprl qlewidsicm plyqalvkvn vklkpmldsv
      541 atnrskweel hqkrllasta ssspasvmva kedrn
//
LOCUS       NP_001374631             925 aa            linear   PRI 30-DEC-2022
DEFINITION  nuclear envelope pore membrane protein POM 121 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001374631
VERSION     NP_001374631.1
DBSOURCE    REFSEQ: accession NM_001387702.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 925)
  AUTHORS   Becker F, Offermann A, Roesch MC, Joerg V, Roth D, Lubczyk V,
            Kuefer R, Sailer V, Kirfel J, Merseburger AS and Perner S.
  TITLE     Up-regulation of POM121 is linked to prostate cancer aggressiveness
            and serves as a prognostic biomarker
  JOURNAL   Urol Oncol 40 (8), 380 (2022)
   PUBMED   35725938
  REMARK    GeneRIF: Up-regulation of POM121 is linked to prostate cancer
            aggressiveness and serves as a prognostic biomarker.
REFERENCE   2  (residues 1 to 925)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (residues 1 to 925)
  AUTHORS   Zhang S, Zheng C, Li D, Bei C, Zhang H, Tian R, Song X, Zhu X and
            Tan S.
  TITLE     Clinical Significance of POM121 Expression in Lung Cancer
  JOURNAL   Genet Test Mol Biomarkers 24 (12), 819-824 (2020)
   PUBMED   33296260
  REMARK    GeneRIF: Clinical Significance of POM121 Expression in Lung Cancer.
REFERENCE   4  (residues 1 to 925)
  AUTHORS   Zhao R, Tang G, Wang T, Zhang L, Wang W, Zhao Q and Zhao K.
  TITLE     POM121 is a novel marker for predicting the prognosis of laryngeal
            cancer
  JOURNAL   Histol Histopathol 35 (11), 1285-1293 (2020)
   PUBMED   33016327
  REMARK    GeneRIF: POM121 is a novel marker for predicting the prognosis of
            laryngeal cancer.
REFERENCE   5  (residues 1 to 925)
  AUTHORS   Coyne AN, Zaepfel BL, Hayes L, Fitchman B, Salzberg Y, Luo EC,
            Bowen K, Trost H, Aigner S, Rigo F, Yeo GW, Harel A, Svendsen CN,
            Sareen D and Rothstein JD.
  TITLE     G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific
            Nucleoporins in C9orf72 ALS/FTD
  JOURNAL   Neuron 107 (6), 1124-1140 (2020)
   PUBMED   32673563
  REMARK    GeneRIF: G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in
            Specific Nucleoporins in C9orf72 ALS/FTD.
REFERENCE   6  (residues 1 to 925)
  AUTHORS   Funakoshi T, Maeshima K, Yahata K, Sugano S, Imamoto F and Imamoto
            N.
  TITLE     Two distinct human POM121 genes: requirement for the formation of
            nuclear pore complexes
  JOURNAL   FEBS Lett 581 (25), 4910-4916 (2007)
   PUBMED   17900573
  REMARK    GeneRIF: RNAi experiments showed that efficient depletion of both
            Pom121 proteins significantly reduces assembled nuclear pore
            complexes on nuclear envelope.
REFERENCE   7  (residues 1 to 925)
  AUTHORS   Le Rouzic E, Mousnier A, Rustum C, Stutz F, Hallberg E, Dargemont C
            and Benichou S.
  TITLE     Docking of HIV-1 Vpr to the nuclear envelope is mediated by the
            interaction with the nucleoporin hCG1
  JOURNAL   J Biol Chem 277 (47), 45091-45098 (2002)
   PUBMED   12228227
REFERENCE   8  (residues 1 to 925)
  AUTHORS   Daigle N, Beaudouin J, Hartnell L, Imreh G, Hallberg E,
            Lippincott-Schwartz J and Ellenberg J.
  TITLE     Nuclear pore complexes form immobile networks and have a very low
            turnover in live mammalian cells
  JOURNAL   J Cell Biol 154 (1), 71-84 (2001)
   PUBMED   11448991
REFERENCE   9  (residues 1 to 925)
  AUTHORS   Bodoor K, Shaikh S, Enarson P, Chowdhury S, Salina D, Raharjo WH
            and Burke B.
  TITLE     Function and assembly of nuclear pore complex proteins
  JOURNAL   Biochem Cell Biol 77 (4), 321-329 (1999)
   PUBMED   10546895
  REMARK    Review article
REFERENCE   10 (residues 1 to 925)
  AUTHORS   Hallberg E, Wozniak RW and Blobel G.
  TITLE     An integral membrane protein of the pore membrane domain of the
            nuclear envelope contains a nucleoporin-like region
  JOURNAL   J Cell Biol 122 (3), 513-521 (1993)
   PUBMED   8335683
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC211469.4 and AC211476.5.
            
            Summary: This gene encodes a transmembrane protein that localizes
            to the inner nuclear membrane and forms a core component of the
            nuclear pore complex, which mediates transport to and from the
            nucleus. The encoded protein may anchor this complex to the nuclear
            envelope. There are multiple related genes and pseudogenes for this
            gene on chromosomes 5, 7, 15, and 22. Alternatively spliced
            transcript variants encoding different isoforms have been observed.
            [provided by RefSeq, Jul 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.744137.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..925
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     Protein         1..925
                     /product="nuclear envelope pore membrane protein POM 121
                     isoform 3"
                     /note="nuclear pore membrane protein 121 kDa; nuclear
                     envelope pore membrane protein POM 121; nucleoporin
                     Nup121; nuclear envelope pore membrane protein POM 121A;
                     POM121 membrane glycoprotein"
                     /calculated_mol_wt=92896
     Region          56..287
                     /region_name="POM121"
                     /note="POM121 family; pfam15229"
                     /db_xref="CDD:434551"
     Region          <303..666
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..925
                     /gene="POM121"
                     /gene_synonym="P145; POM121A"
                     /coded_by="NM_001387702.1:1089..3866"
                     /note="isoform 3 is encoded by transcript variant 21"
                     /db_xref="GeneID:9883"
                     /db_xref="HGNC:HGNC:19702"
                     /db_xref="MIM:615753"
ORIGIN      
        1 mvcspvtvri appdrrfsrs aipeqiisst lsspssnapd pcaketvlsa lkekekkrtv
       61 eeedqifldg qenkrrrhds sgsghsafep lvangvpasf vpkpgslkrg lnsqssddhl
      121 nkrsrsssms sltgayasgi psssrnaits sysstrgisq lwkrngpsss pfsspassrs
      181 qtperpakki reeelchhss sstplaadre sqgekaadtt prkkqnsnsq stpgssgqrk
      241 rkvqllpsrr geqltlpppp qlgysitaed ldlekkaslq wfnqaledks esagaattea
      301 lsppktpsll pplglsqsgp pgllpspsfd skppttllgl ipapsmvpat dtkapptlqa
      361 etatkpqats apspapkqsf lfgtqntsps spaapaassa ppmfkpifta ppksekegpt
      421 ppgpsvtata psssslpttt sttaptfqpv fssmgppasv plpapffkqt ttpatapttt
      481 aplftglasa tsavapitsa spstdsaskp afgfginsvs sssvstttst ataasqpflf
      541 gapqasaasf tpamgsifqf gkppalpttt tvttfsqslh tavptatsss aadfsgfgst
      601 latsapatss qptltfsnts tptfnipfgs saksplpsyp ganpqpafga aegqppgaak
      661 palapsfgss ftfgnsaapa aaptpappsm ikvvpayvpt pihpifggat hsafglkata
      721 safgapassq pafggstavf fgaatssgfg attqtassgs sssvfgsttp spftfggsaa
      781 pagsgsfgin vatpgssttt gafsfgagqs gstatstpfa gglgqnalgt tgqstpfafn
      841 vsstteskpv fggtatptfg lntpapgvgt sgsslsfgas sapaqgfvgv apfgsaalsf
      901 sigagsktpg arqrlqarrq htrkk
//
LOCUS       NP_112184                360 aa            linear   PRI 30-DEC-2022
DEFINITION  magnesium transporter NIPA2 isoform a [Homo sapiens].
ACCESSION   NP_112184
VERSION     NP_112184.4
DBSOURCE    REFSEQ: accession NM_030922.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 360)
  AUTHORS   Zhao W, Zhang WL, Yang B, Sun J and Yang MW.
  TITLE     NIPA2 regulates osteoblast function via its effect on apoptosis
            pathways in type 2 diabetes osteoporosis
  JOURNAL   Biochem Biophys Res Commun 513 (4), 883-890 (2019)
   PUBMED   31003774
  REMARK    GeneRIF: AGEs dose-dependently down-regulated the expression of
            NIPA2 in osteoblasts. NIPA2 also regulated osteoblast apoptosis by
            affecting the intracellular magnesium level and further affecting
            the osteogenic capacity of osteoblasts.
REFERENCE   2  (residues 1 to 360)
  AUTHORS   Xie H, Zhang Y, Zhang P, Wang J, Wu Y, Wu X, Netoff T and Jiang Y.
  TITLE     Functional study of NIPA2 mutations identified from the patients
            with childhood absence epilepsy
  JOURNAL   PLoS One 9 (10), e109749 (2014)
   PUBMED   25347071
  REMARK    GeneRIF: This study primarily reveals that a selective magnesium
            transporter NIPA2 may play a role in the pathogenesis of CAE.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 360)
  AUTHORS   Jiang Y, Zhang Y, Zhang P, Sang T, Zhang F, Ji T, Huang Q, Xie H,
            Du R, Cai B, Zhao H, Wang J, Wu Y, Wu H, Xu K, Liu X, Chan P and Wu
            X.
  TITLE     NIPA2 located in 15q11.2 is mutated in patients with childhood
            absence epilepsy
  JOURNAL   Hum Genet 131 (7), 1217-1224 (2012)
   PUBMED   22367439
  REMARK    GeneRIF: mutations in NIPA2 gene were associated with childhood
            absence epilepsy (CAE), which indicated that the haploinsufficiency
            of NIPA2 might be a candidate mechanism underlying the IGE/CAE
            phenotypes caused by 15q11.2 microdeletions or rare mutations in
            NIPA2
REFERENCE   4  (residues 1 to 360)
  AUTHORS   Quamme GA.
  TITLE     Molecular identification of ancient and modern mammalian magnesium
            transporters
  JOURNAL   Am J Physiol Cell Physiol 298 (3), C407-C429 (2010)
   PUBMED   19940067
  REMARK    Review article
REFERENCE   5  (residues 1 to 360)
  AUTHORS   Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T,
            Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen
            KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT,
            Breuning M and van Ravenswaaij-Arts CM.
  TITLE     Nine patients with a microdeletion 15q11.2 between breakpoints 1
            and 2 of the Prader-Willi critical region, possibly associated with
            behavioural disturbances
  JOURNAL   Eur J Med Genet 52 (2-3), 108-115 (2009)
   PUBMED   19328872
REFERENCE   6  (residues 1 to 360)
  AUTHORS   Bittel DC, Kibiryeva N and Butler MG.
  TITLE     Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and
            behavioral outcomes in Prader-Willi syndrome
  JOURNAL   Pediatrics 118 (4), e1276-e1283 (2006)
   PUBMED   16982806
  REMARK    GeneRIF: quantitated mRNA levels of NIPA2, NIPA2,l CYFIP1, and GCP5
            in Prader-Willi syndrome and correlated levels with psychological
            and behavior scales
REFERENCE   7  (residues 1 to 360)
  AUTHORS   Lefevre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M,
            Lathrop M, Prud'homme JF and Fischer J.
  TITLE     Mutations in ichthyin a new gene on chromosome 5q33 in a new form
            of autosomal recessive congenital ichthyosis
  JOURNAL   Hum Mol Genet 13 (20), 2473-2482 (2004)
   PUBMED   15317751
REFERENCE   8  (residues 1 to 360)
  AUTHORS   Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A,
            Eichler EE and Nicholls RD.
  TITLE     Identification of four highly conserved genes between breakpoint
            hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes
            deletion region that have undergone evolutionary transposition
            mediated by flanking duplicons
  JOURNAL   Am J Hum Genet 73 (4), 898-925 (2003)
   PUBMED   14508708
  REMARK    GeneRIF: located in the genomic domain between break points 1 and 2
            on chromosome 15, of the Prader-Willi/Angelman syndromes
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA082125.1, BM544162.1,
            BC000957.3, U90904.1, R56244.1 and AC011767.12.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 4, 2005 this sequence version replaced NP_112184.3.
            
            Summary: This gene encodes a possible magnesium transporter. This
            gene is located adjacent to the imprinted domain in the
            Prader-Willi syndrome deletion region of chromosome 15. Alternate
            splicing results in multiple transcript variants. Pseudogenes of
            this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq,
            May 2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a). Variants 1, 2, 3 and 4 encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3224244.1,
                                           SRR11853562.10938.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337451.8/ ENSP00000337618.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..360
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.2"
     Protein         1..360
                     /product="magnesium transporter NIPA2 isoform a"
                     /note="magnesium transporter NIPA2; non-imprinted in
                     Prader-Willi/Angelman syndrome region protein 2; non
                     imprinted in Prader-Willi/Angelman syndrome 2"
                     /calculated_mol_wt=39054
     Region          8..302
                     /region_name="Mg_trans_NIPA"
                     /note="Magnesium transporter NIPA; pfam05653"
                     /db_xref="CDD:398984"
     Site            10..30
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            57..77
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            79..99
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            108..128
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            150..170
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            176..196
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            216..236
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            247..267
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     Site            279..299
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Q9.1)"
     CDS             1..360
                     /gene="NIPA2"
                     /gene_synonym="SLC57A2"
                     /coded_by="NM_030922.7:608..1690"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS73693.1"
                     /db_xref="GeneID:81614"
                     /db_xref="HGNC:HGNC:17044"
                     /db_xref="MIM:608146"
ORIGIN      
        1 msqgrgkydf yiglglamss sifiggsfil kkkgllrlar kgsmragqgg haylkewlww
       61 agllsmgage vanfaayafa patlvtplga lsvlvsails syflnerlnl hgkigcllsi
      121 lgstvmviha pkeeeietln emshklgdpg fvvfatlvvi valilifvvg prhgqtnilv
      181 yiticsviga fsvscvkglg iaikelfagk pvlrhplawi lllslivcvs tqinylnral
      241 difntsivtp iyyvffttsv ltcsailfke wqdmpvddvi gtlsgfftii vgifllhafk
      301 dvsfslaslp vsfrkdekam ngnlsnmyev lnnneesltc gieqhtgenv srrngnltaf
//
LOCUS       NP_001309852             386 aa            linear   PRI 30-DEC-2022
DEFINITION  capZ-interacting protein isoform 2 [Homo sapiens].
ACCESSION   NP_001309852 XP_005245662
VERSION     NP_001309852.1
DBSOURCE    REFSEQ: accession NM_001322923.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 386)
  AUTHORS   Ehret GB, O'Connor AA, Weder A, Cooper RS and Chakravarti A.
  TITLE     Follow-up of a major linkage peak on chromosome 1 reveals
            suggestive QTLs associated with essential hypertension: GenNet
            study
  JOURNAL   Eur J Hum Genet 17 (12), 1650-1657 (2009)
   PUBMED   19536175
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (residues 1 to 386)
  AUTHORS   Cheung CL, Chan BY, Chan V, Ikegawa S, Kou I, Ngai H, Smith D, Luk
            KD, Huang QY, Mori S, Sham PC and Kung AW.
  TITLE     Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible
            genetic association with bone mineral density variation
  JOURNAL   Hum Mol Genet 18 (4), 679-687 (2009)
   PUBMED   19064610
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 386)
  AUTHORS   De Braekeleer,E., Douet-Guilbert,N., Le Bris,M.J., Berthou,C.,
            Morel,F. and De Braekeleer,M.
  TITLE     A new partner gene fused to ABL1 in a t(1;9)(q24;q34)-associated
            B-cell acute lymphoblastic leukemia
  JOURNAL   Leukemia 21 (10), 2220-2221 (2007)
   PUBMED   17541395
  REMARK    GeneRIF: CapZIP is fused to ABL1 in a t(1;9)(q24;q34)-associated
            B-cell acute lymphoblastic leukemia
REFERENCE   4  (residues 1 to 386)
  AUTHORS   Eyers CE, McNeill H, Knebel A, Morrice N, Arthur SJ, Cuenda A and
            Cohen P.
  TITLE     The phosphorylation of CapZ-interacting protein (CapZIP) by
            stress-activated protein kinases triggers its dissociation from
            CapZ
  JOURNAL   Biochem J 389 (Pt 1), 127-135 (2005)
   PUBMED   15850461
  REMARK    GeneRIF: The structure and function of CapZ-interacting protein are
            reported.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL031733.3 and AL356532.9.
            On Apr 15, 2016 this sequence version replaced XP_005245662.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.230092.1,
                                           SRR1803613.183866.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..386
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.2"
     Protein         1..386
                     /product="capZ-interacting protein isoform 2"
                     /note="CapZ-interacting protein; protein kinase substrate
                     MK2S4; protein kinase substrate CapZIP; RCSD
                     domain-containing protein 1"
                     /calculated_mol_wt=41130
     Region          48..>136
                     /region_name="CAP-ZIP_m"
                     /note="WASH complex subunit CAP-Z interacting, central
                     region; pfam15255"
                     /db_xref="CDD:434577"
     Region          199..299
                     /region_name="RCSD"
                     /note="RCSD region; pfam05177"
                     /db_xref="CDD:428350"
     CDS             1..386
                     /gene="RCSD1"
                     /gene_synonym="CAPZIP; MK2S4"
                     /coded_by="NM_001322923.2:193..1353"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS81396.1"
                     /db_xref="GeneID:92241"
                     /db_xref="HGNC:HGNC:28310"
                     /db_xref="MIM:610579"
ORIGIN      
        1 meerpaetna nvdnsaspsv aqlagrfreq aaaakekspp nashppkfkv kssplieklq
       61 anltfdpaal lpgaspkspg lkamvspfhs ppstpsspgv rsrpseaeev pvsfdqppeg
      121 shlpcynkvr trgsikrrpp srrfrrsqsd cgelgdfrav essqqngake edgdevlpsk
      181 skapgsplss egaagegvrt lgpaekpplr rspsrtekqe edrateeakn gekarrssee
      241 vdgqhpaqee vpespqtsgp eaenrcgspr eekpageeae mekatevkge rvqneevgpe
      301 hdsqetkkle egaavketph sppggvkggd vpkqekgkek qqegavlepg cspqtgpaql
      361 etssevqsep avpkpeddtp vqdtkm
//
LOCUS       NP_001333284             466 aa            linear   PRI 30-DEC-2022
DEFINITION  autophagy-related protein 13 isoform g [Homo sapiens].
ACCESSION   NP_001333284
VERSION     NP_001333284.1
DBSOURCE    REFSEQ: accession NM_001346355.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 466)
  AUTHORS   Karabi Z, Moradian F and Kheirabadi M.
  TITLE     The effect of lactoferrin on ULK1 and ATG13 genes expression in
            breast cancer cell line MCF7 and bioinformatics studies of protein
            interaction between lactoferrin and the autophagy initiation
            complex
  JOURNAL   Cell Biochem Biophys 80 (4), 795-806 (2022)
   PUBMED   36169801
  REMARK    GeneRIF: The effect of lactoferrin on ULK1 and ATG13 genes
            expression in breast cancer cell line MCF7 and bioinformatics
            studies of protein interaction between lactoferrin and the
            autophagy initiation complex.
REFERENCE   2  (residues 1 to 466)
  AUTHORS   Gottschalk G, Peterson D, Knox K, Maynard M, Whelan RJ and Roy A.
  TITLE     Elevated ATG13 in serum of patients with ME/CFS stimulates
            oxidative stress response in microglial cells via activation of
            receptor for advanced glycation end products (RAGE)
  JOURNAL   Mol Cell Neurosci 120, 103731 (2022)
   PUBMED   35487443
  REMARK    GeneRIF: Elevated ATG13 in serum of patients with ME/CFS stimulates
            oxidative stress response in microglial cells via activation of
            receptor for advanced glycation end products (RAGE).
REFERENCE   3  (residues 1 to 466)
  AUTHORS   Gao L, Zhang Q, Li S, Zheng J, Ren W and Zhi K.
  TITLE     Circ-PKD2 promotes Atg13-mediated autophagy by inhibiting miR-646
            to increase the sensitivity of cisplatin in oral squamous cell
            carcinomas
  JOURNAL   Cell Death Dis 13 (2), 192 (2022)
   PUBMED   35220397
  REMARK    GeneRIF: Circ-PKD2 promotes Atg13-mediated autophagy by inhibiting
            miR-646 to increase the sensitivity of cisplatin in oral squamous
            cell carcinomas.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 466)
  AUTHORS   Guo W, Wang Q, Pan S, Li J, Wang Y, Shu Y, Chen J, Wang Q, Zhang S,
            Zhang X and Yue J.
  TITLE     The ERK1/2-ATG13-FIP200 signaling cascade is required for autophagy
            induction to protect renal cells from hypoglycemia-induced cell
            death
  JOURNAL   J Cell Physiol 236 (10), 6932-6947 (2021)
   PUBMED   33682133
  REMARK    GeneRIF: The ERK1/2-ATG13-FIP200 signaling cascade is required for
            autophagy induction to protect renal cells from
            hypoglycemia-induced cell death.
REFERENCE   5  (residues 1 to 466)
  AUTHORS   Mohamud Y, Xue YC, Liu H, Ng CS, Bahreyni A, Jan E and Luo H.
  TITLE     The papain-like protease of coronaviruses cleaves ULK1 to disrupt
            host autophagy
  JOURNAL   Biochem Biophys Res Commun 540, 75-82 (2021)
   PUBMED   33450483
REFERENCE   6  (residues 1 to 466)
  AUTHORS   Jung CH, Jun CB, Ro SH, Kim YM, Otto NM, Cao J, Kundu M and Kim DH.
  TITLE     ULK-Atg13-FIP200 complexes mediate mTOR signaling to the autophagy
            machinery
  JOURNAL   Mol Biol Cell 20 (7), 1992-2003 (2009)
   PUBMED   19225151
  REMARK    GeneRIF: The ULK-Atg13-FIP200 complexes are direct targets of mTOR
            and important regulators of autophagy in response to mTOR
            signaling.
REFERENCE   7  (residues 1 to 466)
  AUTHORS   Hosokawa N, Hara T, Kaizuka T, Kishi C, Takamura A, Miura Y, Iemura
            S, Natsume T, Takehana K, Yamada N, Guan JL, Oshiro N and Mizushima
            N.
  TITLE     Nutrient-dependent mTORC1 association with the ULK1-Atg13-FIP200
            complex required for autophagy
  JOURNAL   Mol Biol Cell 20 (7), 1981-1991 (2009)
   PUBMED   19211835
  REMARK    GeneRIF: mTORC1 suppresses autophagy through direct regulation of
            the approximately 3-MDa ULK1-Atg13-FIP200 complex.
REFERENCE   8  (residues 1 to 466)
  AUTHORS   Chan EY, Longatti A, McKnight NC and Tooze SA.
  TITLE     Kinase-inactivated ULK proteins inhibit autophagy via their
            conserved C-terminal domains using an Atg13-independent mechanism
  JOURNAL   Mol Cell Biol 29 (1), 157-171 (2009)
   PUBMED   18936157
  REMARK    GeneRIF: The functions of ULK1 and ULK2 are controlled by
            autophosphorylation and conformational changes involving exposure
            of the C-terminal domain and interaction with the putative human
            homologue of Atg13.
            GeneRIF: The gene product is the functional homologue of yeast
            Atg13, and required for autophagy in mammalian cells.
REFERENCE   9  (residues 1 to 466)
  AUTHORS   Meijer WH, van der Klei IJ, Veenhuis M and Kiel JA.
  TITLE     ATG genes involved in non-selective autophagy are conserved from
            yeast to man, but the selective Cvt and pexophagy pathways also
            require organism-specific genes
  JOURNAL   Autophagy 3 (2), 106-116 (2007)
   PUBMED   17204848
REFERENCE   10 (residues 1 to 466)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Behal A, Touchman JW, Bouffard G,
            Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and
            splice variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC127035.6 and AC115088.6.
            
            Summary: The protein encoded by this gene is an autophagy factor
            and a target of the TOR kinase signaling pathway. The encoded
            protein is essential for autophagosome formation and mitophagy.
            [provided by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (46), as well as variant 47,
            encodes isoform g.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1577888.1,
                                           SRR14038191.2589379.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..466
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..466
                     /product="autophagy-related protein 13 isoform g"
                     /note="autophagy-related protein 13; ATG13 autophagy
                     related 13 homolog"
                     /calculated_mol_wt=51200
     Region          19..192
                     /region_name="ATG13"
                     /note="Autophagy-related protein 13; pfam10033"
                     /db_xref="CDD:431003"
     CDS             1..466
                     /gene="ATG13"
                     /gene_synonym="KIAA0652; PARATARG8"
                     /coded_by="NM_001346355.2:408..1808"
                     /note="isoform g is encoded by transcript variant 46"
                     /db_xref="GeneID:9776"
                     /db_xref="HGNC:HGNC:29091"
                     /db_xref="MIM:615088"
ORIGIN      
        1 metdlnsqdr kdldkfikff alktvqvivq arlgekictr ssssptgsdw fnlaikdipe
       61 vtheakkala gqlpavgrsm cveislktse gdsmeleiwc lemnekcdke ikvsytvynr
      121 lslllkslla itrvtpayrl srkqgheyvi lyriyfgevq lsglgegfqt vrvgtvgtpv
      181 gtitlscayr inlafmstrq fertppimgi iidhfvdrpy pssspmhpcn yrtagedtgv
      241 iypsvedsqe vcttsfstsp psqlmvpgke ggvplapnqp vhgtqadqer latctpsdrt
      301 hcaatpssse dtetvsnsse grasphdvle tifvrkvgaf vnkpinqvtl tsldipfamf
      361 apknleledt dpmgslhsdg ssggssgnth ddfvmidfkp afskddilpm dlgtfyrefq
      421 nppqlsslsi digaqsmaed ldslpeklav heknvrefda fvetlq
//
LOCUS       NP_001306174            1797 aa            linear   PRI 31-DEC-2022
DEFINITION  microtubule-associated serine/threonine-protein kinase 2 isoform 2
            [Homo sapiens].
ACCESSION   NP_001306174 XP_005270711
VERSION     NP_001306174.1
DBSOURCE    REFSEQ: accession NM_001319245.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1797)
  AUTHORS   Morange PE, Peiretti F, Gourhant L, Proust C, Soukarieh O,
            Pulcrano-Nicolas AS, Saripella GV, Stefanucci L, Lacroix R,
            Ibrahim-Kosta M, Lemarie CA, Frontini M, Alessi MC, Tregouet DA and
            Couturaud F.
  TITLE     A rare coding mutation in the MAST2 gene causes venous thrombosis
            in a French family with unexplained thrombophilia: The Breizh MAST2
            Arg89Gln variant
  JOURNAL   PLoS Genet 17 (1), e1009284 (2021)
   PUBMED   33465109
  REMARK    GeneRIF: A rare coding mutation in the MAST2 gene causes venous
            thrombosis in a French family with unexplained thrombophilia: The
            Breizh MAST2 Arg89Gln variant.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1797)
  AUTHORS   Rodriguez-Garcia ME, Cotrina-Vinagre FJ, Gomez-Cano MLA, Martinez
            de Aragon A, Martin-Hernandez E and Martinez-Azorin F.
  TITLE     MAST1 variant causes mega-corpus-callosum syndrome with cortical
            malformations but without cerebellar hypoplasia
  JOURNAL   Am J Med Genet A 182 (6), 1483-1490 (2020)
   PUBMED   32198973
  REMARK    GeneRIF: MAST1 variant causes mega-corpus-callosum syndrome with
            cortical malformations but without cerebellar hypoplasia.
REFERENCE   3  (residues 1 to 1797)
  AUTHORS   Jiao Y, Li Y, Jiang P, Fu Z and Liu Y.
  TITLE     High MAST2 mRNA expression and its role in diagnosis and prognosis
            of liver cancer
  JOURNAL   Sci Rep 9 (1), 19865 (2019)
   PUBMED   31882722
  REMARK    GeneRIF: High MAST2 mRNA expression and its role in diagnosis and
            prognosis of liver cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1797)
  AUTHORS   Huang N, Wen Y, Guo X, Li Z, Dai J, Ni B, Yu J, Lin Y, Zhou W, Yao
            B, Jiang Y, Sha J, Conrad DF and Hu Z.
  TITLE     A Screen for Genomic Disorders of Infertility Identifies MAST2
            Duplications Associated with Nonobstructive Azoospermia in Humans
  JOURNAL   Biol Reprod 93 (3), 61 (2015)
   PUBMED   26203179
  REMARK    GeneRIF: we observed 3 case-specific duplications of the autosomal
            gene MAST2, and in a replication phase we found another 11
            duplications
REFERENCE   5  (residues 1 to 1797)
  AUTHORS   Delhommel F, Chaffotte A, Terrien E, Raynal B, Buc H, Delepierre M,
            Cordier F and Wolff N.
  TITLE     Deciphering the unconventional peptide binding to the PDZ domain of
            MAST2
  JOURNAL   Biochem J 469 (1), 159-168 (2015)
   PUBMED   25942057
  REMARK    GeneRIF: Viral and PTEN peptide interactions to MAST2-PDZ occur via
            a unique kinetic step which involves both canonical C-terminal PBM
            binding and N-terminal anchoring.
REFERENCE   6  (residues 1 to 1797)
  AUTHORS   Gisler SM, Stagljar I, Traebert M, Bacic D, Biber J and Murer H.
  TITLE     Interaction of the type IIa Na/Pi cotransporter with PDZ proteins
  JOURNAL   J Biol Chem 276 (12), 9206-9213 (2001)
   PUBMED   11099500
REFERENCE   7  (residues 1 to 1797)
  AUTHORS   Adey NB, Huang L, Ormonde PA, Baumgard ML, Pero R, Byreddy DV,
            Tavtigian SV and Bartel PL.
  TITLE     Threonine phosphorylation of the MMAC1/PTEN PDZ binding domain both
            inhibits and stimulates PDZ binding
  JOURNAL   Cancer Res 60 (1), 35-37 (2000)
   PUBMED   10646847
REFERENCE   8  (residues 1 to 1797)
  AUTHORS   Lumeng C, Phelps S, Crawford GE, Walden PD, Barald K and
            Chamberlain JS.
  TITLE     Interactions between beta 2-syntrophin and a family of
            microtubule-associated serine/threonine kinases
  JOURNAL   Nat Neurosci 2 (7), 611-617 (1999)
   PUBMED   10404183
REFERENCE   9  (residues 1 to 1797)
  AUTHORS   Walden PD and Millette CF.
  TITLE     Increased activity associated with the MAST205 protein kinase
            complex during mammalian spermiogenesis
  JOURNAL   Biol Reprod 55 (5), 1039-1044 (1996)
   PUBMED   8902215
REFERENCE   10 (residues 1 to 1797)
  AUTHORS   Walden PD and Cowan NJ.
  TITLE     A novel 205-kilodalton testis-specific serine/threonine protein
            kinase associated with microtubules of the spermatid manchette
  JOURNAL   Mol Cell Biol 13 (12), 7625-7635 (1993)
   PUBMED   8246979
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL603882.13, AB047005.1, BC065499.1 and AL358075.10.
            On Feb 2, 2016 this sequence version replaced XP_005270711.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC065499.1, SRR14038192.1624862.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1797
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     Protein         1..1797
                     /product="microtubule-associated serine/threonine-protein
                     kinase 2 isoform 2"
                     /EC_number="2.7.11.1"
                     /note="microtubule associated testis specific
                     serine/threonine protein kinase; microtubule-associated
                     serine/threonine-protein kinase 2"
                     /calculated_mol_wt=196219
     Region          1..61
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Site            66
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Site            74
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Site            148
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Site            151
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q60592; propagated from
                     UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Region          172..257
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Region          201..475
                     /region_name="DUF1908"
                     /note="Domain of unknown function (DUF1908); pfam08926"
                     /db_xref="CDD:430324"
     Site            209
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Region          278..305
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Site            290
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Region          477..508
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Region          511..790
                     /region_name="STKc_MAST"
                     /note="Catalytic domain of the Protein Serine/Threonine
                     Kinase, Microtubule-associated serine/threonine kinase;
                     cd05609"
                     /db_xref="CDD:270760"
     Site            order(518..522,526,539,541,573,589..590,592,596,598,635,
                     637,639..640,642,652..653,656,685..690,717,723,726)
                     /site_type="active"
                     /db_xref="CDD:270760"
     Site            order(518..522,526,539,541,573,590..592,596,635,637,
                     639..640,642,652..653)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270760"
     Site            order(522,596,598,635,637,639,656,685..690,717,723,726)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270760"
     Site            order(652..662,682..690)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270760"
     Region          860..892
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Site            874
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Site            876
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Site            895
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q60592; propagated from
                     UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Site            900
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Region          908..927
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Region          934..1013
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Site            1004
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Site            1032
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Region          1067..1097
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Region          1105..1186
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1114..1116,1118,1173..1174,1177..1178)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Site            1255
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Site            1336
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q60592; propagated from
                     UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Site            1363
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Site            1446
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Site            1507
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     Region          1737..1797
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P0Q8.2)"
     CDS             1..1797
                     /gene="MAST2"
                     /gene_synonym="MAST205; MTSSK"
                     /coded_by="NM_001319245.2:285..5678"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:23139"
                     /db_xref="HGNC:HGNC:19035"
                     /db_xref="MIM:612257"
ORIGIN      
        1 mkrsrcrdrp qppppdrred gvqraaelsq slpprrrapp grqrleertg pagpegkeqd
       61 vvtgvspllf rklsnpdifs stgkvklqrq lsqddcklwr gnlasslsgk qllplsssvh
      121 ssvgqvtwqs sgeasnlvrm rnqslgqsap sltaglkels lprrgsfcrt snrkslivts
      181 stsptlprph splhghtgns pldsprnfsp napahfsfvp arrtdgrrws laslpssgyg
      241 tntpsstvss scssqeklhq lpfqptadel hfltkhfste svpdeegrqs pamrprsrsl
      301 spgrspvsfd seiimmnhvy kerfpkataq meerlaefis sntpdsvlpl adgalsfihh
      361 qviemardcl dksrsglits qyfyelqdnl ekllqdaher sessevafvm qlvkklmiii
      421 arparllecl efdpeefyhl leaaeghake gqgikcdipr yivsqlgltr dpleemaqls
      481 scdspdtpet ddsieghgas lpskktpsee dfetiklisn gaygavflvr hkstrqrfam
      541 kkinkqnlil rnqiqqafve rdiltfaenp fvvsmfcsfd tkrhlcmvme yveggdcatl
      601 lknigalpvd mvrlyfaetv laleylhnyg ivhrdlkpdn llitsmghik ltdfglskig
      661 lmslttnlye ghiekdaref ldkqvcgtpe yiapevilrq gygkpvdwwa mgiilyeflv
      721 gcvpffgdtp eelfgqvisd eivwpegdea lppdaqdlts kllhqnpler lgtgsayevk
      781 qhpfftgldw tgllrqkaef ipqleseddt syfdtrsery hhmdsedeee vsedgcleir
      841 qfsscsprfn kvyssmerls lleerrtppp tkrslseeke dhsdglaglk grdrswvigs
      901 peilrkrlsv sesshtesds sppmtvrrrc sglldaprfp egpeeasstl rrqpqegiwv
      961 ltppsgegvs gpvtehsgeq rpkldeeavg rssgsspame trgrgtsqla egatakaisd
     1021 lavrrarhrl lsgdstekrt arpvnkviks asatalslli psehhtcspl aspmsphsqs
     1081 snpssrdssp srdflpalgs mrppiiihra gkkygftlra irvymgdsdv ytvhhmvwhv
     1141 edggpaseag lrqgdlithv ngepvhglvh tevvelilks gnkvaisttp lentsikvgp
     1201 arkgsykakm arrskrsrgk dgqerkrssl frkitkqasl lhtsrslssl nrslssgesg
     1261 pgspthshsl sprsptqgyr vtpdavhsvg gnssqsssps ssvpsspags ghtrpsslhg
     1321 lapklqrqyr sprrksagsi plsplahtps pppptaspqr spsplsghva qafptklhls
     1381 pplgrqlsrp ksaepprspl lkrvqsaekl aaalaasekk latsrkhsld lphselkkel
     1441 pprevsplev vgarsvlsgk galpgkgvlq papsralgtl rqdraerres lqkqeairev
     1501 dsseddteeg pensqgaqel slaphpevsq svapkgages geedpfpsrd prslgpmvps
     1561 lltgitlgpp rmespsgphr rlgspqaiee aassssagpn lgqsgatdpi ppegcwkaqh
     1621 lhtqaltals pstsgltpts scsppsstsg klsmwswksl iegpdrasps rkatmaggla
     1681 nlqdlenttp aqpknlspre qgktqppsap rlahpsyedp sqgwlwesec aqavkedpal
     1741 sitqvpdasg drrqdvpcrg cpltqkseps lrrgqepggh qkhrdlalvp dellkqt
//
LOCUS       NP_001375164             672 aa            linear   PRI 31-DEC-2022
DEFINITION  rap1 GTPase-activating protein 1 isoform 11 [Homo sapiens].
ACCESSION   NP_001375164
VERSION     NP_001375164.1
DBSOURCE    REFSEQ: accession NM_001388235.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 672)
  AUTHORS   Faam B, Ghadiri AA, Ghaffari MA, Totonchi M, Amouzegar A, Azizi F,
            Shahbazian H, Hashemitabar M, Fanaei SA and Khorsandi L.
  TITLE     CpG Island Methylation of the Rap1Gap Gene in Medullary Thyroid
            Cancer
  JOURNAL   Arch Iran Med 25 (3), 171-177 (2022)
   PUBMED   35429959
  REMARK    GeneRIF: CpG Island Methylation of the Rap1Gap Gene in Medullary
            Thyroid Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 672)
  AUTHORS   Shi S, Li J, Li E, Guo W, He Y, Wang J, Zhang Y, Yue L and Wei L.
  TITLE     Simulated Microgravity Increases the Permeability of HUVEC
            Monolayer through Up-Regulation of Rap1GAP and Decreased Rap2
            Activation
  JOURNAL   Int J Mol Sci 23 (2), 630 (2022)
   PUBMED   35054818
  REMARK    GeneRIF: Simulated Microgravity Increases the Permeability of HUVEC
            Monolayer through Up-Regulation of Rap1GAP and Decreased Rap2
            Activation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 672)
  AUTHORS   Yan Z, Yangyanqiu W, Shuwen H, Jing M, Haihong L, Gong C, Yin J,
            Qing Z and Weili G.
  TITLE     Downregulation of Rap1GAP Expression Activates the TGF-beta/Smad3
            Pathway to Inhibit the Expression of Sodium/Iodine Transporter in
            Papillary Thyroid Carcinoma Cells
  JOURNAL   Biomed Res Int 2021, 6840642 (2021)
   PUBMED   34840979
  REMARK    GeneRIF: Downregulation of Rap1GAP Expression Activates the
            TGF-beta/Smad3 Pathway to Inhibit the Expression of Sodium/Iodine
            Transporter in Papillary Thyroid Carcinoma Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 672)
  AUTHORS   Faam B, Ghaffari MA, Khorsandi L, Ghadiri AA, Totonchi M, Amouzegar
            A, Fanaei SA, Azizi F, Shahbazian HB and Hashemi Tabar M.
  TITLE     RAP1GAP Functions as a Tumor Suppressor Gene and Is Regulated by
            DNA Methylation in Differentiated Thyroid Cancer
  JOURNAL   Cytogenet Genome Res 161 (5), 227-235 (2021)
   PUBMED   34311462
  REMARK    GeneRIF: RAP1GAP Functions as a Tumor Suppressor Gene and Is
            Regulated by DNA Methylation in Differentiated Thyroid Cancer.
REFERENCE   5  (residues 1 to 672)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (residues 1 to 672)
  AUTHORS   Kurachi H, Wada Y, Tsukamoto N, Maeda M, Kubota H, Hattori M, Iwai
            K and Minato N.
  TITLE     Human SPA-1 gene product selectively expressed in lymphoid tissues
            is a specific GTPase-activating protein for Rap1 and Rap2.
            Segregate expression profiles from a rap1GAP gene product
  JOURNAL   J Biol Chem 272 (44), 28081-28088 (1997)
   PUBMED   9346962
REFERENCE   7  (residues 1 to 672)
  AUTHORS   Peterson SN, Trabalzini L, Brtva TR, Fischer T, Altschuler DL,
            Martelli P, Lapetina EG, Der CJ and White GC 2nd.
  TITLE     Identification of a novel RalGDS-related protein as a candidate
            effector for Ras and Rap1
  JOURNAL   J Biol Chem 271 (47), 29903-29908 (1996)
   PUBMED   8939933
REFERENCE   8  (residues 1 to 672)
  AUTHORS   Weiss J, Rubinfeld B, Polakis PG, McCormick F, Cavenee WK and Arden
            KC.
  TITLE     The RAP1GA1 locus for human Rap1-GTPase activating protein 1 maps
            to chromosome 1p36.1-->p35
  JOURNAL   Cytogenet Cell Genet 66 (1), 18-21 (1994)
   PUBMED   8275700
REFERENCE   9  (residues 1 to 672)
  AUTHORS   Rubinfeld B, Crosier WJ, Albert I, Conroy L, Clark R, McCormick F
            and Polakis P.
  TITLE     Localization of the rap1GAP catalytic domain and sites of
            phosphorylation by mutational analysis
  JOURNAL   Mol Cell Biol 12 (10), 4634-4642 (1992)
   PUBMED   1406653
REFERENCE   10 (residues 1 to 672)
  AUTHORS   Rubinfeld B, Munemitsu S, Clark R, Conroy L, Watt K, Crosier WJ,
            McCormick F and Polakis P.
  TITLE     Molecular cloning of a GTPase activating protein specific for the
            Krev-1 protein p21rap1
  JOURNAL   Cell 65 (6), 1033-1042 (1991)
   PUBMED   1904317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359815.26.
            
            Summary: This gene encodes a type of GTPase-activating-protein
            (GAP) that down-regulates the activity of the ras-related RAP1
            protein. RAP1 acts as a molecular switch by cycling between an
            inactive GDP-bound form and an active GTP-bound form. The product
            of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and
            hence returns RAP1 to the inactive state whereas other proteins,
            guanine nucleotide exchange factors (GEFs), act as RAP1 activators
            by facilitating the conversion of RAP1 from the GDP- to the
            GTP-bound form. In general, ras subfamily proteins, such as RAP1,
            play key roles in receptor-linked signaling pathways that control
            cell growth and differentiation. RAP1 plays a role in diverse
            processes such as cell proliferation, adhesion, differentiation,
            and embryogenesis. Alternative splicing results in multiple
            transcript variants encoding distinct proteins. [provided by
            RefSeq, Aug 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..672
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     Protein         1..672
                     /product="rap1 GTPase-activating protein 1 isoform 11"
                     /note="rap1 GTPase-activating protein 1"
                     /calculated_mol_wt=73896
     Region          <1..17
                     /region_name="GoLoco"
                     /note="GoLoco motif; pfam02188"
                     /db_xref="CDD:426645"
     Region          211..373
                     /region_name="Rap_GAP"
                     /note="Rap/ran-GAP; pfam02145"
                     /db_xref="CDD:426620"
     CDS             1..672
                     /gene="RAP1GAP"
                     /gene_synonym="RAP1GA1; RAP1GAP1; RAP1GAPII; RAPGAP"
                     /coded_by="NM_001388235.1:253..2271"
                     /note="isoform 11 is encoded by transcript variant 46"
                     /db_xref="GeneID:5909"
                     /db_xref="HGNC:HGNC:9858"
                     /db_xref="MIM:600278"
ORIGIN      
        1 miekmqgsrm deqrcsfppp lkteedyipy psvhevlgre gpfplillpq fggywiegtn
       61 heitsipete plqspttkvk lecnptariy rkhflgkehf nyysldaalg hlvfslkydv
      121 igdqehlrll lrtkcrtyhd vipiscltef pnvvqmaklv cedvnvdrfy pvlypkasrl
      181 ivtfdehvis nnfkfgviyq klgqtseeel fstneespaf vefleflgqk vklqdfkgfr
      241 ggldvthgqt gtesvycnfr nkeimfhvst klpytegdaq qdentpfvpd miasnflhay
      301 vvvqaegggp dgplykvsvt arddvpffgp plpdpavfrk gpefqefllt klinaeyacy
      361 kaekfaklee rtraalletl yeelhihsqs mmglggdedk mengsggggf fesfkrvirs
      421 rsqsmdamgl snkkpntvst shsgsfapnn pdlakaagis llipgksasr fgrrgsaigi
      481 gtveeslivp gksptrkksg pfgsrrssai gieniqevqe kresppagqk tpdsghvsqe
      541 pksensstqs spempttknr aetaaqraea lkdfsrssss assfasvvee tegvdgedtg
      601 lesvsssgtp hkrdsfiyst wledsvstts ggsspgpsrs phpdagklgd pacpeikiql
      661 easeqhmpql gc
//
LOCUS       NP_001291364             313 aa            linear   PRI 01-JAN-2023
DEFINITION  LIM domain-binding protein 2 isoform d [Homo sapiens].
ACCESSION   NP_001291364 XP_005248260
VERSION     NP_001291364.1
DBSOURCE    REFSEQ: accession NM_001304435.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 313)
  AUTHORS   Chu F, Xu X, Zhang Y, Cai H, Peng J, Li Y, Zhang H, Liu H and Chen
            X.
  TITLE     LIM-domain binding protein 2 was down-regulated by miRNA-96-5p
            inhibited the proliferation, invasion and metastasis of lung cancer
            H1299 cells
  JOURNAL   Clinics (Sao Paulo) 78, 100145 (2022)
   PUBMED   36473369
  REMARK    GeneRIF: LIM-domain binding protein 2 was down-regulated by
            miRNA-96-5p inhibited the proliferation, invasion and metastasis of
            lung cancer H1299 cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 313)
  AUTHORS   Ohnishi T, Kiyama Y, Arima-Yoshida F, Kadota M, Ichikawa T, Yamada
            K, Watanabe A, Ohba H, Tanaka K, Nakaya A, Horiuchi Y, Iwayama Y,
            Toyoshima M, Ogawa I, Shimamoto-Mitsuyama C, Maekawa M, Balan S,
            Arai M, Miyashita M, Toriumi K, Nozaki Y, Kurokawa R, Suzuki K,
            Yoshikawa A, Toyota T, Hosoya T, Okuno H, Bito H, Itokawa M, Kuraku
            S, Manabe T and Yoshikawa T.
  TITLE     Cooperation of LIM domain-binding 2 (LDB2) with EGR in the
            pathogenesis of schizophrenia
  JOURNAL   EMBO Mol Med 13 (4), e12574 (2021)
   PUBMED   33656268
  REMARK    GeneRIF: Cooperation of LIM domain-binding 2 (LDB2) with EGR in the
            pathogenesis of schizophrenia.
REFERENCE   3  (residues 1 to 313)
  AUTHORS   Zhai D, Wang G, Li L, Jia X, Zheng G and Yin J.
  TITLE     [LIM-domain binding protein 2 regulated by m6A modification
            inhibits lung adenocarcinoma cell proliferation in vitro]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 41 (3), 329-335 (2021)
   PUBMED   33849822
  REMARK    GeneRIF: [LIM-domain binding protein 2 regulated by m(6)A
            modification inhibits lung adenocarcinoma cell proliferation in
            vitro].
REFERENCE   4  (residues 1 to 313)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 313)
  AUTHORS   Shang MM, Talukdar HA, Hofmann JJ, Niaudet C, Asl HF, Jain RK,
            Rossignoli A, Cedergren C, Silveira A, Gigante B, Leander K, de
            Faire U, Hamsten A, Ruusalepp A, Melander O, Ivert T, Michoel T,
            Schadt EE, Betsholtz C, Skogsberg J and Bjorkegren JL.
  TITLE     Lim domain binding 2: a key driver of transendothelial migration of
            leukocytes and atherosclerosis
  JOURNAL   Arterioscler Thromb Vasc Biol 34 (9), 2068-2077 (2014)
   PUBMED   24925974
  REMARK    GeneRIF: LDB2 was the most connected gene in a transcription factor
            regulatory network inferred from transendothelial migration of
            leukocyte and atherosclerosis module genes in coronary and carotid
            artery disease macrophages.
REFERENCE   6  (residues 1 to 313)
  AUTHORS   DeGrado-Warren J, Dufford M, Chen J, Bartel PL, Shattuck D and
            Frech GC.
  TITLE     Construction and characterization of a normalized yeast two-hybrid
            library derived from a human protein-coding clone collection
  JOURNAL   Biotechniques 44 (2), 265-273 (2008)
   PUBMED   18330356
REFERENCE   7  (residues 1 to 313)
  AUTHORS   Ostendorff HP, Peirano RI, Peters MA, Schluter A, Bossenz M,
            Scheffner M and Bach I.
  TITLE     Ubiquitination-dependent cofactor exchange on LIM homeodomain
            transcription factors
  JOURNAL   Nature 416 (6876), 99-103 (2002)
   PUBMED   11882901
REFERENCE   8  (residues 1 to 313)
  AUTHORS   Ueki N, Seki N, Yano K, Ohira M, Saito T, Masuho Y and Muramatsu M.
  TITLE     Isolation and chromosomal assignment of human genes encoding
            cofactor of LIM homeodomain proteins, CLIM1 and CLIM2
  JOURNAL   J Hum Genet 44 (2), 112-115 (1999)
   PUBMED   10083735
REFERENCE   9  (residues 1 to 313)
  AUTHORS   Ueki N, Oda T, Kondo M, Yano K, Noguchi T and Muramatsu M.
  TITLE     Selection system for genes encoding nuclear-targeted proteins
  JOURNAL   Nat Biotechnol 16 (13), 1338-1342 (1998)
   PUBMED   9853615
REFERENCE   10 (residues 1 to 313)
  AUTHORS   Semina EV, Altherr MR and Murray JC.
  TITLE     Cloning and chromosomal localization of two novel human genes
            encoding LIM-domain binding factors CLIM1 and CLIM2/LDB1/NLI
  JOURNAL   Mamm Genome 9 (11), 921-924 (1998)
   PUBMED   9799849
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA521198.1, AK226029.1,
            AC097515.5 and DB352456.1.
            On Jan 24, 2015 this sequence version replaced XP_005248260.1.
            
            Summary: The protein encoded by this gene belongs to the LIM-domain
            binding family. Members of this family are characterized by a
            conserved nuclear localization sequence, an amino-terminal
            homodimerization domain and a carboxy-terminal LIM interaction
            domain. These proteins function as adapter molecules to allow
            assembly of transcriptional regulatory complexes. Genetic
            association studies suggest functions for this gene in
            rhegmatogenous retinal detachment and coronary artery disease.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2015].
            
            Transcript Variant: This variant (4) uses an alternate splice site
            in the 3' coding region an differs in the 3' UTR compared to
            variant 1. It encodes isoform (d), which is shorter and has a
            distinct C-terminus compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK226029.1, SRR14038197.1745388.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p15.32"
     Protein         1..313
                     /product="LIM domain-binding protein 2 isoform d"
                     /note="LIM domain-binding factor-2; LIM binding domain 2;
                     LIM domain-binding protein 2; LIM domain-binding factor
                     CLIM1; carboxyl-terminal LIM domain-binding protein 1"
                     /calculated_mol_wt=35968
     Region          31..232
                     /region_name="LIM_bind"
                     /note="LIM-domain binding protein; pfam01803"
                     /db_xref="CDD:426444"
     CDS             1..313
                     /gene="LDB2"
                     /gene_synonym="CLIM1; LDB-2; LDB1"
                     /coded_by="NM_001304435.2:161..1102"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS77902.1"
                     /db_xref="GeneID:9079"
                     /db_xref="HGNC:HGNC:6533"
                     /db_xref="MIM:603450"
ORIGIN      
        1 msstphdpfy sspfgpfyrr htpymvqpey riyemnkrlq srtedsdnlw wdafateffe
       61 ddatltlsfc ledgpkryti grtlipryfs tvfeggvtdl yyilkhskes yhnssitvdc
      121 dqctmvtqhg kpmftkvcte grlileftfd dlmriktwhf tirqyrelvp rsilamhaqd
      181 pqvldqlskn itrmgltnft lnylrlcvil epmqelmsrh ktynlsprdc lktclfqkwq
      241 rmvappaept rqpttkrrkr knstsstsns sagnnanstg skkkttaanl slssqvpias
      301 iarspvsgca lrt
//
LOCUS       NP_001092764             199 aa            linear   PRI 20-JAN-2023
DEFINITION  protein shisa-like-1 precursor [Homo sapiens].
ACCESSION   NP_001092764 XP_376018
VERSION     NP_001092764.1
DBSOURCE    REFSEQ: accession NM_001099294.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 199)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 199)
  AUTHORS   Pei J and Grishin NV.
  TITLE     Unexpected diversity in Shisa-like proteins suggests the importance
            of their roles as transmembrane adaptors
  JOURNAL   Cell Signal 24 (3), 758-769 (2012)
   PUBMED   22120523
REFERENCE   3  (residues 1 to 199)
  AUTHORS   Hirosawa M, Nagase T, Murahashi Y, Kikuno R and Ohara O.
  TITLE     Identification of novel transcribed sequences on human chromosome
            22 by expressed sequence tag mapping
  JOURNAL   DNA Res 8 (1), 1-9 (2001)
   PUBMED   11258795
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL671760.9, AL591914.3, AL022339.1 and AL031595.4.
            On Jun 29, 2007 this sequence version replaced XP_376018.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR3476690.1153780.1, BC104183.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2155974 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381176.5/ ENSP00000370568.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..199
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.31"
     Protein         1..199
                     /product="protein shisa-like-1 precursor"
                     /note="protein shisa-like-1"
                     /calculated_mol_wt=19962
     sig_peptide     1..25
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2629
     Site            53
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q3SXP7.2)"
     Site            95
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q3SXP7.2)"
     Site            98..118
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SXP7.2)"
     Region          146..199
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SXP7.2)"
     CDS             1..199
                     /gene="SHISAL1"
                     /gene_synonym="KIAA1644"
                     /coded_by="NM_001099294.2:234..833"
                     /db_xref="CCDS:CCDS43025.1"
                     /db_xref="GeneID:85352"
                     /db_xref="HGNC:HGNC:29335"
                     /db_xref="MIM:620220"
ORIGIN      
        1 mtscgqqsln vlavlfsllf savlsahfrv cepytdhkgr yhfgfhcprl sdnktfilcc
       61 hhnntvfkyc cnetefqavm qanltasseg ymhnnytall gvwiygffvl mllvldllyy
      121 samnydickv ylarwgiqgr wmkqdprrwg nparaprpgq rapqpqpppg plpqapqavh
      181 tlrgdahspp lmtfqsssa
//
LOCUS       NP_001363176             648 aa            linear   PRI 22-JAN-2023
DEFINITION  E3 ubiquitin-protein ligase MARCHF7 isoform g [Homo sapiens].
ACCESSION   NP_001363176 XP_016860209
VERSION     NP_001363176.1
DBSOURCE    REFSEQ: accession NM_001376247.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 648)
  AUTHORS   Singh S, Bano A, Saraya A, Das P and Sharma R.
  TITLE     Association of MARCH7 with tumor progression and T-cell
            infiltration in esophageal cancer
  JOURNAL   Med Oncol 40 (1), 67 (2022)
   PUBMED   36583798
  REMARK    GeneRIF: Association of MARCH7 with tumor progression and T-cell
            infiltration in esophageal cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 648)
  AUTHORS   Mahajan S, Sharma GK, Bora K and Pattnaik B.
  TITLE     Identification of novel interactions between host and
            non-structural protein 2C of foot-and-mouth disease virus
  JOURNAL   J Gen Virol 102 (3) (2021)
   PUBMED   33729124
  REMARK    GeneRIF: Identification of novel interactions between host and
            non-structural protein 2C of foot-and-mouth disease virus.
REFERENCE   3  (residues 1 to 648)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 648)
  AUTHORS   Liu L, Hu J, Yu T, You S, Zhang Y and Hu L.
  TITLE     miR-27b-3p/MARCH7 regulates invasion and metastasis of endometrial
            cancer cells through Snail-mediated pathway
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 51 (5), 492-500 (2019)
   PUBMED   31006800
  REMARK    GeneRIF: Data show that miR-27b-3p inhibited ubiquitin E3 ligase
            membrane-associated RING-CH-type finger 7 (MARCH7) in endometrial
            cancer (EC) cells and MARCH7 promoted cell invasion through snail
            transcription factors (Snail)-mediated pathway.
REFERENCE   5  (residues 1 to 648)
  AUTHORS   Hu J, Zhang L, Mei Z, Jiang Y, Yi Y, Liu L, Meng Y, Zhou L, Zeng J,
            Wu H and Jiang X.
  TITLE     Interaction of E3 Ubiquitin Ligase MARCH7 with Long Noncoding RNA
            MALAT1 and Autophagy-Related Protein ATG7 Promotes Autophagy and
            Invasion in Ovarian Cancer
  JOURNAL   Cell Physiol Biochem 47 (2), 654-666 (2018)
   PUBMED   29794480
  REMARK    GeneRIF: MARCH7 may function as a competing endogenous RNA (ceRNA)
            to regulate the expression of ATG7 by competing with miR-200a.
            MARCH7 silencing inhibited autophagy invasion and metastasis of
            SKOV3 cells both in vitro and in vivo.
REFERENCE   6  (residues 1 to 648)
  AUTHORS   Muthukumarana PA, Lyons GE, Miura Y, Thompson LH, Watson T, Green
            CJ, Shurey S, Hess AD, Rosengard BR and Metcalfe SM.
  TITLE     Evidence for functional inter-relationships between FOXP3,
            leukaemia inhibitory factor, and axotrophin/MARCH-7 in
            transplantation tolerance
  JOURNAL   Int Immunopharmacol 6 (13-14), 1993-2001 (2006)
   PUBMED   17161353
  REMARK    GeneRIF: Data suggest that clinical auto-graft versus host disease
            inversely correlates with axotrophin transcript expression.
REFERENCE   7  (residues 1 to 648)
  AUTHORS   Flierman D, Coleman CS, Pickart CM, Rapoport TA and Chau V.
  TITLE     E2-25K mediates US11-triggered retro-translocation of MHC class I
            heavy chains in a permeabilized cell system
  JOURNAL   Proc Natl Acad Sci U S A 103 (31), 11589-11594 (2006)
   PUBMED   16868077
REFERENCE   8  (residues 1 to 648)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   9  (residues 1 to 648)
  AUTHORS   Metcalfe SM, Muthukumarana PA, Thompson HL, Haendel MA and Lyons
            GE.
  TITLE     Leukaemia inhibitory factor (LIF) is functionally linked to
            axotrophin and both LIF and axotrophin are linked to regulatory
            immune tolerance
  JOURNAL   FEBS Lett 579 (3), 609-614 (2005)
   PUBMED   15670816
REFERENCE   10 (residues 1 to 648)
  AUTHORS   Bartee E, Mansouri M, Hovey Nerenberg BT, Gouveia K and Fruh K.
  TITLE     Downregulation of major histocompatibility complex class I by human
            ubiquitin ligases related to viral immune evasion proteins
  JOURNAL   J Virol 78 (3), 1109-1120 (2004)
   PUBMED   14722266
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009961.11.
            On Nov 12, 2019 this sequence version replaced XP_016860209.1.
            
            Summary: MARCH7 is a member of the MARCH family of membrane-bound
            E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin
            (see MIM 191339) to target lysines in substrate proteins, thereby
            signaling their vesicular transport between membrane compartments
            (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Mar
            2010].
            
            Transcript Variant: This variant (18), as well as variant 19,
            encodes isoform g.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853566.15982.1,
                                           SRR14038194.1666097.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.2"
     Protein         1..648
                     /product="E3 ubiquitin-protein ligase MARCHF7 isoform g"
                     /EC_number="2.3.2.27"
                     /note="axotrophin; membrane-associated RING-CH protein
                     VII; E3 ubiquitin-protein ligase MARCH7; RING finger
                     protein 177; membrane associated ring finger 7;
                     membrane-associated RING finger protein 7;
                     membrane-associated ring finger (C3HC4) 7, E3 ubiquitin
                     protein ligase; RING-type E3 ubiquitin transferase MARCH7;
                     RING-type E3 ubiquitin transferase MARCHF7; E3
                     ubiquitin-protein ligase MARCHF7"
                     /calculated_mol_wt=71464
     Region          496..554
                     /region_name="RING_CH-C4HC3_MARCH7"
                     /note="RING-CH finger, H2 subclass (C4HC3-type), found in
                     membrane-associated RING-CH7 (MARCH7); cd16812"
                     /db_xref="CDD:438461"
     Site            order(496,499,514,516,524,527,548,551)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:438461"
     CDS             1..648
                     /gene="MARCHF7"
                     /gene_synonym="AXO; AXOT; MARCH-VII; MARCH7; RNF177"
                     /coded_by="NM_001376247.1:116..2062"
                     /note="isoform g is encoded by transcript variant 18"
                     /db_xref="GeneID:64844"
                     /db_xref="HGNC:HGNC:17393"
                     /db_xref="MIM:613334"
ORIGIN      
        1 meskpsripr risvqpsssl sarmmsgsrg sslndtyhsr dssfrldsey qstsasasas
       61 pfqsawyses eitqgarsrs qnqqrdhdsk rpklsctnct tsagrnvgng lntlsdvqdr
      121 vpsysqgarp kensmstlql ntsstnhqlp sehqtilssr dsrnslrsnf ssresessrs
      181 ntqpgfsyss srdeapiisn servvssqrp fqessdnegr rttrrllsri assmsstffs
      241 rrssqdslnt rslnsensyv spriltasqs rsnvpsasev pdnraseasq gfrflrrrwg
      301 lsslshnhss esdsenfnqe segrntgpwl ssslrnrctp lfsrrrregr dessriptsd
      361 tssrshifrr esnevvhlea qndplgaaan rpqasaasss attggstsds aqggrntgis
      421 gilpgslfrf avppalgsnl tdnvmitvdi ipsgwnsadg ksdktksaps rdperlqkik
      481 esllledsee eegdlcricq maaasssnll iepckctgsl qyvhqdcmkk wlqakinsgs
      541 sleavttcel ckeklelnle dfdihelhra haneqaeyef issglylvvl lhlceqsfsd
      601 mmgntnepst rvrfinlart lqahmedlet seddseedgd hnrtfdia
//
LOCUS       NP_001123927            2081 aa            linear   PRI 14-MAR-2023
DEFINITION  dysferlin isoform 2 [Homo sapiens].
ACCESSION   NP_001123927
VERSION     NP_001123927.1
DBSOURCE    REFSEQ: accession NM_001130455.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2081)
  AUTHORS   Folland C, Johnsen R, Botero Gomez A, Trajanoski D, Davis MR, Moore
            U, Straub V, Barresi R, Guglieri M, Hayhurst H, Schaefer AM, Laing
            NG, Lamont PJ and Ravenscroft G.
  TITLE     Identification of a novel heterozygous DYSF variant in a large
            family with a dominantly-inherited dysferlinopathy
  JOURNAL   Neuropathol Appl Neurobiol 48 (7), e12846 (2022)
   PUBMED   35962550
  REMARK    GeneRIF: Identification of a novel heterozygous DYSF variant in a
            large family with a dominantly-inherited dysferlinopathy.
REFERENCE   2  (residues 1 to 2081)
  AUTHORS   Zhang X, He D, Xiang Y, Wang C, Liang B, Li B, Qi D, Deng Q, Yu H,
            Lu Z and Zheng F.
  TITLE     DYSF promotes monocyte activation in atherosclerotic cardiovascular
            disease as a DNA methylation-driven gene
  JOURNAL   Transl Res 247, 19-38 (2022)
   PUBMED   35460889
  REMARK    GeneRIF: DYSF promotes monocyte activation in atherosclerotic
            cardiovascular disease as a DNA methylation-driven gene.
REFERENCE   3  (residues 1 to 2081)
  AUTHORS   Zhong H, Yu M, Lin P, Zhao Z, Zheng X, Xi J, Zhu W, Zheng Y, Zhang
            W, Lv H, Yan C, Hu J, Wang Z, Lu J, Zhao C, Luo S and Yuan Y.
  TITLE     Molecular landscape of DYSF mutations in dysferlinopathy: From a
            Chinese multicenter analysis to a worldwide perspective
  JOURNAL   Hum Mutat 42 (12), 1615-1623 (2021)
   PUBMED   34559919
  REMARK    GeneRIF: Molecular landscape of DYSF mutations in dysferlinopathy:
            From a Chinese multicenter analysis to a worldwide perspective.
REFERENCE   4  (residues 1 to 2081)
  AUTHORS   Peng LS, Li ZM, Chen G, Liu FY, Luo Y, Guo JB, Gao GD, Deng YH, Xu
            LX, Zhou JY and Zou Y.
  TITLE     Frequent DYSF rare variants/mutations in 152 Han Chinese samples
            with ovarian endometriosis
  JOURNAL   Arch Gynecol Obstet 304 (3), 671-677 (2021)
   PUBMED   33987686
  REMARK    GeneRIF: Frequent DYSF rare variants/mutations in 152 Han Chinese
            samples with ovarian endometriosis.
REFERENCE   5  (residues 1 to 2081)
  AUTHORS   Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, Walsh J,
            Johnson MA, Bashir R, Britton S, Keers S, Argov Z, Mahjneh I,
            Fougerousse F, Beckmann JS and Bushby KM.
  TITLE     Dysferlin is a plasma membrane protein and is expressed early in
            human development
  JOURNAL   Hum Mol Genet 8 (5), 855-861 (1999)
   PUBMED   10196375
  REMARK    Erratum:[Hum Mol Genet 1999 Jun;8(6):1141]
REFERENCE   6  (residues 1 to 2081)
  AUTHORS   Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M,
            Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I,
            Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS and
            Bushby K.
  TITLE     A gene related to Caenorhabditis elegans spermatogenesis factor
            fer-1 is mutated in limb-girdle muscular dystrophy type 2B
  JOURNAL   Nat Genet 20 (1), 37-42 (1998)
   PUBMED   9731527
REFERENCE   7  (residues 1 to 2081)
  AUTHORS   Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C,
            Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato
            AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA,
            Schurr E, Arahata K, de Jong PJ and Brown RH Jr.
  TITLE     Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi
            myopathy and limb girdle muscular dystrophy
  JOURNAL   Nat Genet 20 (1), 31-36 (1998)
   PUBMED   9731526
REFERENCE   8  (residues 1 to 2081)
  AUTHORS   Bashir R, Strachan T, Keers S, Stephenson A, Mahjneh I, Marconi G,
            Nashef L and Bushby KM.
  TITLE     A gene for autosomal recessive limb-girdle muscular dystrophy maps
            to chromosome 2p
  JOURNAL   Hum Mol Genet 3 (3), 455-457 (1994)
   PUBMED   8012357
REFERENCE   9  (residues 1 to 2081)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   10 (residues 1 to 2081)
  AUTHORS   Aoki,M. and Takahashi,T.
  TITLE     Dysferlinopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301480
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104084.5, DQ267935.1,
            AF075575.1 and DB292971.1.
            
            Summary: The protein encoded by this gene belongs to the ferlin
            family and is a skeletal muscle protein found associated with the
            sarcolemma. It is involved in muscle contraction and contains C2
            domains that play a role in calcium-mediated membrane fusion
            events, suggesting that it may be involved in membrane regeneration
            and repair. In addition, the protein encoded by this gene binds
            caveolin-3, a skeletal muscle membrane protein which is important
            in the formation of caveolae. Specific mutations in this gene have
            been shown to cause autosomal recessive limb girdle muscular
            dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Aug 2008].
            
            Transcript Variant: This variant (2) has multiple differences in
            the coding region but maintains the reading frame, compared to
            variant 1. This variant encodes isoform 2 which is shorter than
            isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ267935.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2081
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.2"
     Protein         1..2081
                     /product="dysferlin isoform 2"
                     /note="dystrophy-associated fer-1-like 1; fer-1-like
                     protein 1; limb girdle muscular dystrophy 2B (autosomal
                     recessive); fer-1-like family member 1"
                     /calculated_mol_wt=237251
     Region          5..134
                     /region_name="C2A_Ferlin"
                     /note="C2 domain first repeat in Ferlin; cd08373"
                     /db_xref="CDD:176019"
     Region          133..216
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75923.1)"
     Site            167
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75923.1)"
     Site            168
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75923.1)"
     Site            198
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75923.1)"
     Site            199
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75923.1)"
     Region          218..327
                     /region_name="C2B_Ferlin"
                     /note="C2 domain second repeat in Ferlin; cd04011"
                     /db_xref="CDD:175978"
     Region          325..375
                     /region_name="FerI"
                     /note="FerI (NUC094) domain; pfam08151"
                     /db_xref="CDD:429843"
     Region          381..555
                     /region_name="C2C_Ferlin"
                     /note="C2 domain third repeat in Ferlin; cd04018"
                     /db_xref="CDD:175985"
     Site            order(412,418,466,468,480,482)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:175985"
     Region          696..760
                     /region_name="FerA"
                     /note="FerA (NUC095) domain; pfam08165"
                     /db_xref="CDD:429854"
     Region          787..860
                     /region_name="FerB"
                     /note="FerB (NUC096) domain; pfam08150"
                     /db_xref="CDD:429842"
     Region          876..934
                     /region_name="DysFN"
                     /note="Dysferlin domain, N-terminal region; smart00693"
                     /db_xref="CDD:214777"
     Region          947..1003
                     /region_name="DysFN"
                     /note="Dysferlin domain, N-terminal region; smart00693"
                     /db_xref="CDD:214777"
     Region          1153..1281
                     /region_name="C2D_Ferlin"
                     /note="C2 domain fourth repeat in Ferlin; cd04017"
                     /db_xref="CDD:175984"
     Site            order(1169,1175,1231,1233)
                     /site_type="other"
                     /note="putative Ca2+ binding site [ion binding]"
                     /db_xref="CDD:175984"
     Region          <1174..>1434
                     /region_name="COG5038"
                     /note="Ca2+-dependent lipid-binding protein, contains C2
                     domain [General function prediction only]"
                     /db_xref="CDD:227371"
     Region          1580..1703
                     /region_name="C2E_Ferlin"
                     /note="C2 domain fifth repeat in Ferlin; cd04037"
                     /db_xref="CDD:176002"
     Site            order(1595,1601,1650,1652,1657)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176002"
     Region          1814..1945
                     /region_name="C2F_Ferlin"
                     /note="C2 domain sixth repeat in Ferlin; cd08374"
                     /db_xref="CDD:176020"
     Region          1958..>2046
                     /region_name="Ferlin_C"
                     /note="Ferlin C-terminus; pfam16165"
                     /db_xref="CDD:435183"
     Region          1996..2018
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75923.1)"
     Site            2048..2068
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75923.1)"
     CDS             1..2081
                     /gene="DYSF"
                     /gene_synonym="FER1L1; LGMD2B; LGMDR2; MMD1"
                     /coded_by="NM_001130455.2:145..6390"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS46331.1"
                     /db_xref="GeneID:8291"
                     /db_xref="HGNC:HGNC:3097"
                     /db_xref="MIM:603009"
ORIGIN      
        1 mlccllvras nlpsakkdrr sdpvasltfr gvkkrtkvik nsvnpvwneg fewdlkgipl
       61 dqgselhvvv kdhetmgrnr flgeakvplr evlatpslsa sfnaplldtk kqptgaslvl
      121 qvsytplpga vplfppptpl epsptlpdld vvadtggeed tedqgltgde aepfldqsgg
      181 pgapttprkl psrppphypg ikrkrsapts rkllsdkpqd fqirvqvieg rqlpgvnikp
      241 vvkvtaagqt krtrihkgns plfnetlffn lfdspgelfd epifitvvds rslrtdallg
      301 efrmdvgtiy reprhaylrk wlllsdpddf sagargylkt slcvlgpgde aplerkdpse
      361 dkediesnll rptgvalrga hfclkvfrae dlpqmddavm dnvkqifgfe snkknlvdpf
      421 vevsfagkml cskilektan pqwnqnitlp amfpsmcekm ririidwdrl thndivatty
      481 lsmskisapg geieeepaga vkpskasdld dylgflptfg pcyinlygsp reftgfpdpy
      541 telntgkgeg vayrgrllls letklvehse qkvedlpadd ilrvekylrr rkyslfaafy
      601 satmlqdvdd aiqfevsign ygnkfdmtcl plasttqysr avfdgchyyy lpwgnvkpvv
      661 vlssywedis hrietqnqll giadrleagl eqvhlalkaq cstedvdslv aqltdeliag
      721 csqplgdihe tpsathldqy lyqlrthhls qiteaalalk lghselpaal eqaedwllrl
      781 ralaeepqns lpdiviwmlq gdkrvayqrv pahqvlfsrr ganycgkncg klqtiflkyp
      841 mekvpgarmp vqirvklwfg lsvdekefnq faegklsvfa etyenetkla lvgnwgttgl
      901 typkfsdvtg kiklpkdsfr psagwtwagd wfvcpektll hdmdaghlsf veevfenqtr
      961 lpggqwiyms dnytdvngek vlpkddiecp lgwkwedeew stdlnravde qgweysitip
     1021 perkpkhwvp aekmyythrr rrwvrlrrrd lsqmealkrh rqaeaegegw eyaslfgwkf
     1081 hleyrktdaf rrrrwrrrme plektgpaav falegalggv mddksedsms vstlsfgvnr
     1141 ptiscifdyg nryhlrcymy qardlaamdk dsfsdpyaiv sflhqsqktv vvkntlnptw
     1201 dqtlifyeie ifgepatvae qppsivvely dhdtygadef mgrcicqpsl ermprlawfp
     1261 ltrgsqpsge llasfeliqr ekpaihhipg fevqetsril desedtdlpy pppqreaniy
     1321 mvpqnikpal qrtaieilaw glrnmksyql anisspslvv ecggqtvqsc virnlrknpn
     1381 fdictlfmev mlpreelycp pitvkvidnr qfgrrpvvgq ctirslesfl cdpysaesps
     1441 pqggpddvsl lspgedvlid iddkeplipi qeeefidwws kffasigere kcgsylekdf
     1501 dtlkvydtql enveafegls dfcntfklyr gktqeetedp svigefkglf kiyplpedpa
     1561 ipmpprqfhq laaqgpqecl vriyivrafg lqpkdpngkc dpyikisigk ksvsdqdnyi
     1621 pctlepvfgk mfeltctlpl ekdlkitlyd ydllskdeki getvvdlenr llskfgarcg
     1681 lpqtycvsgp nqwrdqlrps qllhlfcqqh rvkapvyrtd rvmfqdkeys ieeieagrip
     1741 nphlgpveer lalhvlqqqg lvpehvesrp lysplqpdie qgklqmwvdl fpkalgrpgp
     1801 pfnitprrar rfflrciiwn trdvilddls ltgekmsdiy vkgwmigfee hkqktdvhyr
     1861 slggegnfnw rfifpfdylp aeqvctiakk dafwrldkte skiparvvfq iwdndkfsfd
     1921 dflgslqldl nrmpkpakta kkcsldqldd afhpewfvsl feqktvkgww pcvaeegekk
     1981 ilagklemtl eivaesehee rpagqgrdep nmnpkledpr rpdtsflwft spyktmkfil
     2041 wrrfrwaiil fiilfilllf laifiyafpn yaamklvkpf s
//
LOCUS       NP_001334865             712 aa            linear   PRI 15-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 44 [Homo sapiens].
ACCESSION   NP_001334865 XP_016875500
VERSION     NP_001334865.1
DBSOURCE    REFSEQ: accession NM_001347936.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 712)
  AUTHORS   Chi Z, Zhang B, Sun R, Wang Y, Zhang L and Xu G.
  TITLE     USP44 accelerates the growth of T-cell acute lymphoblastic leukemia
            through interacting with WDR5 and repressing its ubiquitination
  JOURNAL   Int J Med Sci 19 (14), 2022-2032 (2022)
   PUBMED   36483601
  REMARK    GeneRIF: USP44 accelerates the growth of T-cell acute lymphoblastic
            leukemia through interacting with WDR5 and repressing its
            ubiquitination.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 712)
  AUTHORS   Chen Y, Zhao Y, Yang X, Ren X, Huang S, Gong S, Tan X, Li J, He S,
            Li Y, Hong X, Li Q, Ding C, Fang X, Ma J and Liu N.
  TITLE     USP44 regulates irradiation-induced DNA double-strand break repair
            and suppresses tumorigenesis in nasopharyngeal carcinoma
  JOURNAL   Nat Commun 13 (1), 501 (2022)
   PUBMED   35079021
  REMARK    GeneRIF: USP44 regulates irradiation-induced DNA double-strand
            break repair and suppresses tumorigenesis in nasopharyngeal
            carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 712)
  AUTHORS   Zhang Y, Mandemaker IK, Matsumoto S, Foreman O, Holland CP, Lloyd
            WR, Sugasawa K, Vermeulen W, Marteijn JA and Galardy PJ.
  TITLE     USP44 Stabilizes DDB2 to Facilitate Nucleotide Excision Repair and
            Prevent Tumors
  JOURNAL   Front Cell Dev Biol 9, 663411 (2021)
   PUBMED   33937266
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 712)
  AUTHORS   Koprulu M, Shabbir RMK, Zaman Q, Nalbant G, Malik S and Tolun A.
  TITLE     CRADD and USP44 mutations in intellectual disability, mild
            lissencephaly, brain atrophy, developmental delay, strabismus,
            behavioural problems and skeletal anomalies
  JOURNAL   Eur J Med Genet 64 (4), 104181 (2021)
   PUBMED   33647455
  REMARK    GeneRIF: CRADD and USP44 mutations in intellectual disability, mild
            lissencephaly, brain atrophy, developmental delay, strabismus,
            behavioural problems and skeletal anomalies.
REFERENCE   5  (residues 1 to 712)
  AUTHORS   Chen X, Wu X and Lei W.
  TITLE     USP44 hypermethylation promotes cell proliferation and metastasis
            in breast cancer
  JOURNAL   Future Oncol 17 (3), 279-289 (2021)
   PUBMED   32956592
  REMARK    GeneRIF: USP44 hypermethylation promotes cell proliferation and
            metastasis in breast cancer.
REFERENCE   6  (residues 1 to 712)
  AUTHORS   Suresh B, Ramakrishna S, Lee HJ, Choi JH, Kim JY, Ahn WS and Baek
            KH.
  TITLE     K48- and K63-linked polyubiquitination of deubiquitinating enzyme
            USP44
  JOURNAL   Cell Biol Int 34 (8), 799-808 (2010)
   PUBMED   20402667
REFERENCE   7  (residues 1 to 712)
  AUTHORS   Sowa ME, Bennett EJ, Gygi SP and Harper JW.
  TITLE     Defining the human deubiquitinating enzyme interaction landscape
  JOURNAL   Cell 138 (2), 389-403 (2009)
   PUBMED   19615732
REFERENCE   8  (residues 1 to 712)
  AUTHORS   Stegmeier F, Rape M, Draviam VM, Nalepa G, Sowa ME, Ang XL,
            McDonald ER 3rd, Li MZ, Hannon GJ, Sorger PK, Kirschner MW, Harper
            JW and Elledge SJ.
  TITLE     Anaphase initiation is regulated by antagonistic ubiquitination and
            deubiquitination activities
  JOURNAL   Nature 446 (7138), 876-881 (2007)
   PUBMED   17443180
  REMARK    GeneRIF: a dynamic balance of ubiquitination by the APC and
            deubiquitination by USP44 contributes to the generation of the
            switch-like transition controlling anaphase entry
REFERENCE   9  (residues 1 to 712)
  AUTHORS   Quesada V, Diaz-Perales A, Gutierrez-Fernandez A, Garabaya C, Cal S
            and Lopez-Otin C.
  TITLE     Cloning and enzymatic analysis of 22 novel human ubiquitin-specific
            proteases
  JOURNAL   Biochem Biophys Res Commun 314 (1), 54-62 (2004)
   PUBMED   14715245
REFERENCE   10 (residues 1 to 712)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018475.32.
            On Dec 22, 2016 this sequence version replaced XP_016875500.1.
            
            Summary: The protein encoded by this gene is a protease that
            functions as a deubiquitinating enzyme. The encoded protein is
            thought to help regulate the spindle assembly checkpoint by
            preventing early anaphase onset. This protein specifically
            deubiquitinates CDC20, which stabilizes the anaphase promoting
            complex/cyclosome. [provided by RefSeq, Dec 2016].
            
            Transcript Variant: This variant (5) encodes the same protein as
            variants 1, 2, 3, and 6.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.273642.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161674 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..712
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q22"
     Protein         1..712
                     /product="ubiquitin carboxyl-terminal hydrolase 44"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin specific protease 44;
                     ubiquitin-specific-processing protease 44;
                     deubiquitinating enzyme 44; ubiquitin thioesterase 44;
                     ubiquitin thiolesterase 44"
                     /calculated_mol_wt=81054
     Region          29..90
                     /region_name="zf-UBP"
                     /note="Zn-finger in ubiquitin-hydrolases and other
                     protein; pfam02148"
                     /db_xref="CDD:426622"
     Site            169
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:22692537; propagated from
                     UniProtKB/Swiss-Prot (Q9H0E7.2)"
     Site            239
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:22692537; propagated from
                     UniProtKB/Swiss-Prot (Q9H0E7.2)"
     Site            269
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000305|PubMed:22692537; propagated from
                     UniProtKB/Swiss-Prot (Q9H0E7.2)"
     Region          273..675
                     /region_name="UCH"
                     /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443"
                     /db_xref="CDD:425685"
     Site            401
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:22692537; propagated from
                     UniProtKB/Swiss-Prot (Q9H0E7.2)"
     Region          690..712
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H0E7.2)"
     CDS             1..712
                     /gene="USP44"
                     /coded_by="NM_001347936.2:157..2295"
                     /db_xref="CCDS:CCDS9053.1"
                     /db_xref="GeneID:84101"
                     /db_xref="HGNC:HGNC:20064"
                     /db_xref="MIM:610993"
ORIGIN      
        1 mlamdtckhv gqlqlaqdhs slnpqkwhcv dcnttesiwa clscshvacg ryieehalkh
       61 fqesshpval evnemyvfcy lcddyvlndn ttgdlkllrr tlsaiksqny hcttrsgrfl
      121 rsmgtgddsy flhdgaqsll qsedqlytal whrrrilmgk ifrtwfeqsp igrkkqeepf
      181 qekivvkrev kkrrqeleyq vkaelesmpp rkslrlqgla qstiieivsv qvpaqtpasp
      241 akdkvlstse neisqkvsds svkrrpivtp gvtglrnlgn tcymnsvlqv lshllifrqc
      301 flkldlnqwl amtasektrs ckhppvtdtv vyqmnecqek dtgfvcsrqs slssglsgga
      361 skgrkmeliq pkeptsqyis lchelhtlfq vmwsgkwalv spfamlhsvw rlipafrgya
      421 qqdaqeflce lldkiqrele ttgtslpali ptsqrklikq vlnvvnnifh gqllsqvtcl
      481 acdnksntie pfwdlslefp eryqcsgkdi asqpclvtem lakfteteal egkiyvcdqc
      541 nskrrrfssk pvvlteaqkq lmichlpqvl rlhlkrfrws grnnrekigv hvgfeeilnm
      601 epyccretlk slrpecfiyd lsavvmhhgk gfgsghytay cynseggfwv hcndsklsmc
      661 tmdevckaqa yilfytqrvt enghskllpp elllgsqhpn edadtssnei ls
//
LOCUS       NP_001073347             676 aa            linear   PRI 16-MAR-2023
DEFINITION  cyclic nucleotide-gated cation channel alpha-3 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001073347
VERSION     NP_001073347.1
DBSOURCE    REFSEQ: accession NM_001079878.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 676)
  AUTHORS   Reuter P, Walter M, Kohl S and Weisschuh N.
  TITLE     Systematic analysis of CNGA3 splice variants identifies different
            mechanisms of aberrant splicing
  JOURNAL   Sci Rep 13 (1), 2896 (2023)
   PUBMED   36801918
  REMARK    GeneRIF: Systematic analysis of CNGA3 splice variants identifies
            different mechanisms of aberrant splicing.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 676)
  AUTHORS   Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C,
            Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B,
            Branham K, Catala-Mora J, De Baere E, Dollfus H, Falana M, Giorda
            R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K,
            Jagle H, Janecke AR, Kellner U, Liskova P, Lorenz B,
            Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F,
            Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB,
            Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F,
            Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K,
            Wissinger B and Kohl S.
  TITLE     Comprehensive variant spectrum of the CNGA3 gene in patients
            affected by achromatopsia
  JOURNAL   Hum Mutat 43 (7), 832-858 (2022)
   PUBMED   35332618
  REMARK    GeneRIF: Comprehensive variant spectrum of the CNGA3 gene in
            patients affected by achromatopsia.
            Review article
REFERENCE   3  (residues 1 to 676)
  AUTHORS   Yousaf S, Tariq N, Sajid Z, Sheikh SA, Kausar T, Waryah YM, Shaikh
            RS, Waryah AM, Sethna S, Riazuddin S and Ahmed ZM.
  TITLE     Delineating the Molecular and Phenotypic Spectrum of the
            CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families
  JOURNAL   Genes (Basel) 13 (4), 617 (2022)
   PUBMED   35456423
  REMARK    GeneRIF: Delineating the Molecular and Phenotypic Spectrum of the
            CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 676)
  AUTHORS   Zheng X, Li H, Hu Z, Su D and Yang J.
  TITLE     Structural and functional characterization of an
            achromatopsia-associated mutation in a phototransduction channel
  JOURNAL   Commun Biol 5 (1), 190 (2022)
   PUBMED   35233102
  REMARK    GeneRIF: Structural and functional characterization of an
            achromatopsia-associated mutation in a phototransduction channel.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 676)
  AUTHORS   Tekavcic Pompe M, Vrabic N, Volk M, Meglic A, Jarc-Vidmar M,
            Peterlin B, Hawlina M and Fakin A.
  TITLE     Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics
            of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data
            from 126 Patients from 7 Studies
  JOURNAL   Curr Issues Mol Biol 43 (2), 941-957 (2021)
   PUBMED   34449556
  REMARK    GeneRIF: Disease Progression in CNGA3 and CNGB3 Retinopathy;
            Characteristics of Slovenian Cohort and Proposed OCT Staging Based
            on Pooled Data from 126 Patients from 7 Studies.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 676)
  AUTHORS   Kohl S, Marx T, Giddings I, Jagle H, Jacobson SG, Apfelstedt-Sylla
            E, Zrenner E, Sharpe LT and Wissinger B.
  TITLE     Total colourblindness is caused by mutations in the gene encoding
            the alpha-subunit of the cone photoreceptor cGMP-gated cation
            channel
  JOURNAL   Nat Genet 19 (3), 257-259 (1998)
   PUBMED   9662398
REFERENCE   7  (residues 1 to 676)
  AUTHORS   Wissinger B, Muller F, Weyand I, Schuffenhauer S, Thanos S, Kaupp
            UB and Zrenner E.
  TITLE     Cloning, chromosomal localization and functional expression of the
            gene encoding the alpha-subunit of the cGMP-gated channel in human
            cone photoreceptors
  JOURNAL   Eur J Neurosci 9 (12), 2512-2521 (1997)
   PUBMED   9517456
REFERENCE   8  (residues 1 to 676)
  AUTHORS   Arbour NC, Zlotogora J, Knowlton RG, Merin S, Rosenmann A, Kanis
            AB, Rokhlina T, Stone EM and Sheffield VC.
  TITLE     Homozygosity mapping of achromatopsia to chromosome 2 using DNA
            pooling
  JOURNAL   Hum Mol Genet 6 (5), 689-694 (1997)
   PUBMED   9158143
REFERENCE   9  (residues 1 to 676)
  AUTHORS   Distler M, Biel M, Flockerzi V and Hofmann F.
  TITLE     Expression of cyclic nucleotide-gated cation channels in
            non-sensory tissues and cells
  JOURNAL   Neuropharmacology 33 (11), 1275-1282 (1994)
   PUBMED   7532814
REFERENCE   10 (residues 1 to 676)
  AUTHORS   Kohl,S., Jagle,H., Wissinger,B. and Zobor,D.
  TITLE     Achromatopsia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301591
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092675.2, DR002103.1 and
            BC096299.1.
            
            Summary: This gene encodes a member of the cyclic nucleotide-gated
            cation channel protein family which is required for normal vision
            and olfactory signal transduction. Mutations in this gene are
            associated with achromatopsia (rod monochromacy) and color
            blindness. Two alternatively spliced transcripts encoding different
            isoforms have been described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the coding region, compared to variant 1. The resulting
            protein (isoform 2) is shorter and lacks an internal segment,
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK308149.1, SRR14038195.775772.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..676
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     Protein         1..676
                     /product="cyclic nucleotide-gated cation channel alpha-3
                     isoform 2"
                     /note="cyclic nucleotide-gated cation channel alpha-3;
                     cone photoreceptor cGMP-gated channel alpha subunit;
                     CNG-3; CNG channel alpha-3; cone photoreceptor cGMP-gated
                     channel subunit alpha; cyclic nucleotide gated channel
                     alpha 3"
                     /calculated_mol_wt=76772
     Region          150..392
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          464..580
                     /region_name="CAP_ED"
                     /note="effector domain of the CAP family of transcription
                     factors; members include CAP (or cAMP receptor protein
                     (CRP)), which binds cAMP, FNR (fumarate and nitrate
                     reduction), which uses an iron-sulfur cluster to sense
                     oxygen) and CooA, a heme containing CO...; cd00038"
                     /db_xref="CDD:237999"
     Site            order(530..531,546..548)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:237999"
     Site            order(568..570,574..576)
                     /site_type="other"
                     /note="flexible hinge region"
                     /db_xref="CDD:237999"
     Region          580..649
                     /region_name="CLZ"
                     /note="C-terminal leucine zipper domain of cyclic
                     nucleotide-gated channels; pfam16526"
                     /db_xref="CDD:435399"
     CDS             1..676
                     /gene="CNGA3"
                     /gene_synonym="ACHM2; CCNC1; CCNCa; CCNCalpha; CNCG3;
                     CNG3"
                     /coded_by="NM_001079878.2:117..2147"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS42719.1"
                     /db_xref="GeneID:1261"
                     /db_xref="HGNC:HGNC:2150"
                     /db_xref="MIM:600053"
ORIGIN      
        1 makintqysh psrthlkvkt sdrdlnraen glsrahssse etssvlqpgi ametrglads
       61 gqgsftgqgi arlsrlifll rrwaarhvhh qdqgpdsfpd rfrgaelkev ssqesnaqan
      121 vgsqepadrg rrkktkkkda ivvdpssnly yrwltaialp vfynwyllic racfdelqse
      181 ylmlwlvldy sadvlyvldv lvrartgfle qglmvsdtnr lwqhyktttq fkldvlslvp
      241 tdlaylkvgt nypevrfnrl lkfsrlfeff drtetrtnyp nmfrignlvl yiliiihwna
      301 ciyfaiskfi gfgtdswvyp nisipehgrl srkyiyslyw stltlttige tpppvkdeey
      361 lfvvvdflvg vlifativgn vgsmisnmna sraefqakid sikqymqfrk vtkdletrvi
      421 rwfdylwank ktvdekevlk slpdklkaei ainvhldtlk kvrifqdcea gllvelvlkl
      481 rptvfspgdy ickkgdigke myiinegkla vvaddgvtqf vvlsdgsyfg eisilnikgs
      541 ksgnrrtani rsigysdlfc lskddlmeal teypeakkal eekgrqilmk dnlideelar
      601 agadpkdlee kveqlgssld tlqtrfarll aeynatqmkm kqrlsqlesq vkgggdkpla
      661 dgevpgdatk tedkqq
//
LOCUS       NP_001361425             220 aa            linear   PRI 17-MAR-2023
DEFINITION  cystinosin isoform 3 [Homo sapiens].
ACCESSION   NP_001361425 XP_016879747
VERSION     NP_001361425.1
DBSOURCE    REFSEQ: accession NM_001374496.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 220)
  AUTHORS   El Younsi M, Trabelsi M, Ben Youssef S, Ouertani I, Hammi Y, Achour
            A, Maazoul F, Kharrat M, Gargah T and M'rad R.
  TITLE     Clinical and genetic characteristics of Tunisian children with
            infantile nephropathic cystinosis
  JOURNAL   Pediatr Nephrol 38 (1), 119-129 (2023)
   PUBMED   35445972
  REMARK    GeneRIF: Clinical and genetic characteristics of Tunisian children
            with infantile nephropathic cystinosis.
REFERENCE   2  (residues 1 to 220)
  AUTHORS   Chkioua L, Amri Y, Saheli C, Mili W, Mabrouk S, Chabchoub I,
            Boudabous H, Azzouz WB, Turkia HB, Ferchichi S, Tebib N, Massoud T,
            Ghorbel M and Laradi S.
  TITLE     Molecular characterization of CTNS mutations in Tunisian patients
            with ocular cystinosis
  JOURNAL   Diagn Pathol 17 (1), 44 (2022)
   PUBMED   35524314
  REMARK    GeneRIF: Molecular characterization of CTNS mutations in Tunisian
            patients with ocular cystinosis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 220)
  AUTHORS   Gholami Yarahmadi S, Sarlaki F and Morovvati S.
  TITLE     Cystinosis and two rare mutations in CTNS gene: two case reports
  JOURNAL   J Med Case Rep 16 (1), 181 (2022)
   PUBMED   35513889
  REMARK    GeneRIF: Cystinosis and two rare mutations in CTNS gene: two case
            reports.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 220)
  AUTHORS   Wang X, Zhang BL, Chen XY and Guo Z.
  TITLE     Cystinosis induced by CTNS gene mutation: a rare disease study
  JOURNAL   Zhongguo Dang Dai Er Ke Za Zhi 23 (12), 1276-1281 (2021)
   PUBMED   34911613
  REMARK    GeneRIF: Cystinosis induced by CTNS gene mutation: a rare disease
            study.', trans 'CTNS.
REFERENCE   5  (residues 1 to 220)
  AUTHORS   Cherqui S.
  TITLE     Hematopoietic Stem Cell Gene Therapy for Cystinosis: From
            Bench-to-Bedside
  JOURNAL   Cells 10 (12), 3273 (2021)
   PUBMED   34943781
  REMARK    GeneRIF: Hematopoietic Stem Cell Gene Therapy for Cystinosis: From
            Bench-to-Bedside.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 220)
  AUTHORS   Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G,
            Shotelersuk V, Green ED and Gahl WA.
  TITLE     Identification and detection of the common 65-kb deletion
            breakpoint in the nephropathic cystinosis gene (CTNS)
  JOURNAL   Mol Genet Metab 66 (2), 111-116 (1999)
   PUBMED   10068513
REFERENCE   7  (residues 1 to 220)
  AUTHORS   Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R,
            Bernardini I, Guo J, Thoene J and Gahl WA.
  TITLE     CTNS mutations in an American-based population of cystinosis
            patients
  JOURNAL   Am J Hum Genet 63 (5), 1352-1362 (1998)
   PUBMED   9792862
REFERENCE   8  (residues 1 to 220)
  AUTHORS   Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA,
            Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W and
            Antignac C.
  TITLE     A novel gene encoding an integral membrane protein is mutated in
            nephropathic cystinosis
  JOURNAL   Nat Genet 18 (4), 319-324 (1998)
   PUBMED   9537412
REFERENCE   9  (residues 1 to 220)
  AUTHORS   Nesterova,G. and Gahl,W.A.
  TITLE     Cystinosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301574
REFERENCE   10 (residues 1 to 220)
  AUTHORS   Gahl,W.A., Bashan,N., Tietze,F., Bernardini,I. and Schulman,J.D.
  TITLE     Cystine transport is defective in isolated leukocyte lysosomes from
            patients with cystinosis
  JOURNAL   Science 217 (4566), 1263-1265 (1982)
   PUBMED   7112129
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC027796.9 and AC132942.16.
            On Oct 2, 2019 this sequence version replaced XP_016879747.1.
            
            Summary: This gene encodes a seven-transmembrane domain protein
            that functions to transport cystine out of lysosomes. Its activity
            is driven by the H+ electrochemical gradient of the lysosomal
            membrane. Mutations in this gene cause cystinosis, a lysosomal
            storage disorder. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jul 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.2231128.1,
                                           SRR1803616.115899.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..220
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     Protein         1..220
                     /product="cystinosin isoform 3"
                     /note="cystinosis nephropathic"
                     /calculated_mol_wt=25198
     Region          1..210
                     /region_name="2A43"
                     /note="Lysosomal Cystine Transporter; TIGR00951"
                     /db_xref="CDD:130026"
     CDS             1..220
                     /gene="CTNS"
                     /gene_synonym="CTNS-LSB; PQLC4; SLC66A4"
                     /coded_by="NM_001374496.1:578..1240"
                     /note="isoform 3 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS92228.1"
                     /db_xref="GeneID:1497"
                     /db_xref="HGNC:HGNC:2518"
                     /db_xref="MIM:606272"
ORIGIN      
        1 mnwrrksvig lsfdfvalnl tgfvaysvfn igllwvpyik eqfllkypng vnpvnsndvf
       61 fslhavvltl iiivqcclye rggqrvswpa igflvlawlf afvtmivaav gvttwlqflf
      121 cfsyiklavt lvkyfpqaym nfyykstegw signvlldft ggsfsllqmf lqsynndqwt
      181 lifgdptkfg lgvfsivfdv vffiqhfcly rkrpgydqln
//
LOCUS       NP_998760                167 aa            linear   PRI 18-MAR-2023
DEFINITION  iron-sulfur cluster assembly enzyme ISCU isoform 2 precursor [Homo
            sapiens].
ACCESSION   NP_998760
VERSION     NP_998760.1
DBSOURCE    REFSEQ: accession NM_213595.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 167)
  AUTHORS   Freibert SA, Boniecki MT, Stumpfig C, Schulz V, Krapoth N, Winge
            DR, Muhlenhoff U, Stehling O, Cygler M and Lill R.
  TITLE     N-terminal tyrosine of ISCU2 triggers [2Fe-2S] cluster synthesis by
            ISCU2 dimerization
  JOURNAL   Nat Commun 12 (1), 6902 (2021)
   PUBMED   34824239
  REMARK    GeneRIF: N-terminal tyrosine of ISCU2 triggers [2Fe-2S] cluster
            synthesis by ISCU2 dimerization.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 167)
  AUTHORS   Maio N and Rouault TA.
  TITLE     Iron-sulfur cluster biogenesis in mammalian cells: New insights
            into the molecular mechanisms of cluster delivery
  JOURNAL   Biochim Biophys Acta 1853 (6), 1493-1512 (2015)
   PUBMED   25245479
  REMARK    Review article
REFERENCE   3  (residues 1 to 167)
  AUTHORS   Crooks DR, Jeong SY, Tong WH, Ghosh MC, Olivierre H, Haller RG and
            Rouault TA.
  TITLE     Tissue specificity of a human mitochondrial disease:
            differentiation-enhanced mis-splicing of the Fe-S scaffold gene
            ISCU renders patient cells more sensitive to oxidative stress in
            ISCU myopathy
  JOURNAL   J Biol Chem 287 (48), 40119-40130 (2012)
   PUBMED   23035118
  REMARK    GeneRIF: ISCU protein deficiency in patients results from
            muscle-specific mis-splicing and oxidative stress.
REFERENCE   4  (residues 1 to 167)
  AUTHORS   Nordin A, Larsson E, Thornell LE and Holmberg M.
  TITLE     Tissue-specific splicing of ISCU results in a skeletal muscle
            phenotype in myopathy with lactic acidosis, while complete loss of
            ISCU results in early embryonic death in mice
  JOURNAL   Hum Genet 129 (4), 371-378 (2011)
   PUBMED   21165651
  REMARK    GeneRIF: Data show that the highest level of incorrectly spliced
            ISCU mRNA was found in skeletal muscle.
REFERENCE   5  (residues 1 to 167)
  AUTHORS   Sanaker PS, Toompuu M, Hogan VE, He L, Tzoulis C,
            Chrzanowska-Lightowlers ZM, Taylor RW and Bindoff LA.
  TITLE     Differences in RNA processing underlie the tissue specific
            phenotype of ISCU myopathy
  JOURNAL   Biochim Biophys Acta 1802 (6), 539-544 (2010)
   PUBMED   20206689
REFERENCE   6  (residues 1 to 167)
  AUTHORS   Olsson A, Lind L, Thornell LE and Holmberg M.
  TITLE     Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11
            and caused by an intron mutation in the ISCU gene resulting in a
            splicing defect
  JOURNAL   Hum Mol Genet 17 (11), 1666-1672 (2008)
   PUBMED   18296749
  REMARK    GeneRIF: Intron mutation in the ISCU gene, leading to incorrectly
            spliced mRNA, is the cause of myopathy with lactic acidosis in this
            family.
REFERENCE   7  (residues 1 to 167)
  AUTHORS   Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T,
            Andersen PM, Singleton A, Rouault TA, Fischbeck KH and Haller RG.
  TITLE     Splice mutation in the iron-sulfur cluster scaffold protein ISCU
            causes myopathy with exercise intolerance
  JOURNAL   Am J Hum Genet 82 (3), 652-660 (2008)
   PUBMED   18304497
  REMARK    GeneRIF: Gene ISCU was identified as a candidate within a region of
            shared homozygosity among patients with myopathy with severe
            exercise intolerance and myoglobinuria.
REFERENCE   8  (residues 1 to 167)
  AUTHORS   Tong WH and Rouault T.
  TITLE     Distinct iron-sulfur cluster assembly complexes exist in the
            cytosol and mitochondria of human cells
  JOURNAL   EMBO J 19 (21), 5692-5700 (2000)
   PUBMED   11060020
REFERENCE   9  (residues 1 to 167)
  AUTHORS   Hwang DM, Dempsey A, Tan KT and Liew CC.
  TITLE     A modular domain of NifU, a nitrogen fixation cluster protein, is
            highly conserved in evolution
  JOURNAL   J Mol Evol 43 (5), 536-540 (1996)
   PUBMED   8875867
REFERENCE   10 (residues 1 to 167)
  AUTHORS   Mochel,F. and Haller,R.G.
  TITLE     Myopathy with Deficiency of ISCU - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301757
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK057251.1, BC011906.2 and
            BQ020993.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a component of the iron-sulfur (Fe-S)
            cluster scaffold. Fe-S clusters are cofactors that play a role in
            the function of a diverse set of enzymes, including those that
            regulate metabolism, iron homeostasis, and oxidative stress
            response. Alternative splicing results in transcript variants
            encoding different protein isoforms that localize either to the
            cytosol or to the mitochondrion. Mutations in this gene have been
            found in patients with hereditary myopathy with lactic acidosis. A
            disease-associated mutation in an intron may activate a cryptic
            splice site, resulting in the production of a splice variant
            encoding a putatively non-functional protein. A pseudogene of this
            gene is present on chromosome 1. [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (2) encodes the longest isoform
            (2). Isoform 2 is localized to the mitochondrion.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC011906.2, AK000574.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000311893.14/
                                                  ENSP00000310623.9
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..167
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.3"
     Protein         1..167
                     /product="iron-sulfur cluster assembly enzyme ISCU isoform
                     2 precursor"
                     /note="iron-sulfur cluster assembly enzyme ISCU,
                     mitochondrial; nifU-like N-terminal domain-containing
                     protein; IscU iron-sulfur cluster scaffold homolog"
                     /calculated_mol_wt=14386
     transit_peptide 1..34
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (Q9H1K1.2)"
                     /calculated_mol_wt=3631
     Site            14
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MTOR.
                     /evidence=ECO:0000269|PubMed:23508953; propagated from
                     UniProtKB/Swiss-Prot (Q9H1K1.2)"
     Site            order(34..37,40..41,69..70,95,97,134..135,137..138)
                     /site_type="other"
                     /note="trimerization site [polypeptide binding]"
                     /db_xref="CDD:143480"
     mat_peptide     35..167
                     /product="Iron-sulfur cluster assembly enzyme ISCU.
                     /id=PRO_0000019692"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1K1.2)"
                     /calculated_mol_wt=14386
     Region          35..158
                     /region_name="iscU"
                     /note="FeS cluster assembly scaffold IscU; TIGR01999"
                     /db_xref="CDD:188192"
     Site            35
                     /site_type="other"
                     /note="Mediates ISCU dimerization and de novo [2Fe-2S]
                     cluster assembly. /evidence=ECO:0000269|PubMed:34824239;
                     propagated from UniProtKB/Swiss-Prot (Q9H1K1.2)"
     Site            order(69,95,138)
                     /site_type="active"
                     /db_xref="CDD:143480"
     CDS             1..167
                     /gene="ISCU"
                     /gene_synonym="2310020H20Rik; HML; hnifU; ISU2; NIFU;
                     NIFUN"
                     /coded_by="NM_213595.4:28..531"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS44966.1"
                     /db_xref="GeneID:23479"
                     /db_xref="HGNC:HGNC:29882"
                     /db_xref="MIM:611911"
ORIGIN      
        1 maaagafrlr raasalllrs prlparelsa parlyhkkvv dhyenprnvg sldktsknvg
       61 tglvgapacg dvmklqiqvd ekgkivdarf ktfgcgsaia ssslatewvk gktveealti
      121 kntdiakelc lppvklhcsm laedaikaal adyklkqepk kgeaekk
//
LOCUS       NP_899200               1261 aa            linear   PRI 19-MAR-2023
DEFINITION  adenylate cyclase type 5 isoform 1 [Homo sapiens].
ACCESSION   NP_899200 XP_351568
VERSION     NP_899200.1
DBSOURCE    REFSEQ: accession NM_183357.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1261)
  AUTHORS   Cif L, Demailly D, Gehin C, Chan Seng E, Dornadic M, Huby S, Poulen
            G, Roubertie A, Villessot M, Roujeau T and Coubes P.
  TITLE     Deep brain stimulation effect in genetic dyskinetic cerebral palsy:
            The case of ADCY5- related disease
  JOURNAL   Mol Genet Metab 138 (1), 106970 (2023)
   PUBMED   36610259
  REMARK    GeneRIF: Deep brain stimulation effect in genetic dyskinetic
            cerebral palsy: The case of ADCY5- related disease.
REFERENCE   2  (residues 1 to 1261)
  AUTHORS   Rivera-Paredez B, Aparicio-Bautista DI, Argoty-Pantoja AD, Patino
            N, Flores Morales J, Salmeron J, Leon-Reyes G and Velazquez-Cruz R.
  TITLE     Association of MARC1, ADCY5, and BCO1 Variants with the Lipid
            Profile, Suggests an Additive Effect for Hypertriglyceridemia in
            Mexican Adult Men
  JOURNAL   Int J Mol Sci 23 (19), 11815 (2022)
   PUBMED   36233117
  REMARK    GeneRIF: Association of MARC1, ADCY5, and BCO1 Variants with the
            Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia
            in Mexican Adult Men.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1261)
  AUTHORS   Liu J, Ding H and Liu R.
  TITLE     Mutation of ADCY5 gene in patients with Meige syndrome
  JOURNAL   Asian J Surg 45 (7), 1487-1488 (2022)
   PUBMED   35288007
  REMARK    GeneRIF: Mutation of ADCY5 gene in patients with Meige syndrome.
REFERENCE   4  (residues 1 to 1261)
  AUTHORS   Aguilera-Venegas IG, Mora-Pena JD, Velazquez-Villafana M,
            Gonzalez-Dominguez MI, Barbosa-Sabanero G, Gomez-Zapata HM and
            Lazo-de-la-Vega-Monroy ML.
  TITLE     Association of diabetes-related variants in ADCY5 and CDKAL1 with
            neonatal insulin, C-peptide, and birth weight
  JOURNAL   Endocrine 74 (2), 318-331 (2021)
   PUBMED   34169461
  REMARK    GeneRIF: Association of diabetes-related variants in ADCY5 and
            CDKAL1 with neonatal insulin, C-peptide, and birth weight.
REFERENCE   5  (residues 1 to 1261)
  AUTHORS   Ludwig MG and Seuwen K.
  TITLE     Characterization of the human adenylyl cyclase gene family: cDNA,
            gene structure, and tissue distribution of the nine isoforms
  JOURNAL   J Recept Signal Transduct Res 22 (1-4), 79-110 (2002)
   PUBMED   12503609
REFERENCE   6  (residues 1 to 1261)
  AUTHORS   Cote M, Guillon G, Payet MD and Gallo-Payet N.
  TITLE     Expression and regulation of adenylyl cyclase isoforms in the human
            adrenal gland
  JOURNAL   J Clin Endocrinol Metab 86 (9), 4495-4503 (2001)
   PUBMED   11549699
REFERENCE   7  (residues 1 to 1261)
  AUTHORS   Raimundo S, Giray J, Volff JN, Schwab M, Altenbuchner J, Ratge D
            and Wisser H.
  TITLE     Cloning and sequence of partial cDNAs encoding the human type V and
            VI adenylyl cyclases and subsequent RNA-quantification in various
            tissues
  JOURNAL   Clin Chim Acta 285 (1-2), 155-161 (1999)
   PUBMED   10481931
REFERENCE   8  (residues 1 to 1261)
  AUTHORS   Dessauer CW and Gilman AG.
  TITLE     Purification and characterization of a soluble form of mammalian
            adenylyl cyclase
  JOURNAL   J Biol Chem 271 (28), 16967-16974 (1996)
   PUBMED   8663304
REFERENCE   9  (residues 1 to 1261)
  AUTHORS   Haber N, Stengel D, Defer N, Roeckel N, Mattei MG and Hanoune J.
  TITLE     Chromosomal mapping of human adenylyl cyclase genes type III, type
            V and type VI
  JOURNAL   Hum Genet 94 (1), 69-73 (1994)
   PUBMED   8034296
REFERENCE   10 (residues 1 to 1261)
  AUTHORS   Hisama,F.M., Friedman,J., Raskind,W.H. and Bird,T.D.
  TITLE     ADCY5 Dyskinesia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   25521004
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025571.20, AF497517.1 and
            AC112503.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 18, 2003 this sequence version replaced XP_351568.1.
            
            Summary: This gene encodes a member of the membrane-bound adenylyl
            cyclase enzymes. Adenylyl cyclases mediate G protein-coupled
            receptor signaling through the synthesis of the second messenger
            cAMP. Activity of the encoded protein is stimulated by the Gs alpha
            subunit of G protein-coupled receptors and is inhibited by protein
            kinase A, calcium and Gi alpha subunits. Single nucleotide
            polymorphisms in this gene may be associated with low birth weight
            and type 2 diabetes. Alternatively spliced transcript variants that
            encode different isoforms have been observed for this gene.
            [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: GQ891503.1, SRR14038193.3993331.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000462833.6/ ENSP00000419361.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1261
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.1"
     Protein         1..1261
                     /product="adenylate cyclase type 5 isoform 1"
                     /EC_number="4.6.1.1"
                     /note="adenylate cyclase type 5; adenylyl cyclase 5;
                     adenylate cyclase type V; ATP pyrophosphate-lyase 5;
                     epididymis secretory sperm binding protein"
                     /calculated_mol_wt=138777
     Region          1..458
                     /region_name="AC_N"
                     /note="Adenylyl cyclase N-terminal extracellular and
                     transmembrane region; pfam16214"
                     /db_xref="CDD:318454"
     Region          1..195
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95622.3)"
     Site            23
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P84309; propagated from
                     UniProtKB/Swiss-Prot (O95622.3)"
     Site            96
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P84309; propagated from
                     UniProtKB/Swiss-Prot (O95622.3)"
     Site            155
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P84309; propagated from
                     UniProtKB/Swiss-Prot (O95622.3)"
     Site            196..216
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95622.3)"
     Site            242..262
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95622.3)"
     Site            268..288
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95622.3)"
     Site            299..319
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95622.3)"
     Site            325..345
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95622.3)"
     Site            374..394
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95622.3)"
     Region          460..643
                     /region_name="Guanylate_cyc"
                     /note="Adenylate and Guanylate cyclase catalytic domain;
                     pfam00211"
                     /db_xref="CDD:425528"
     Site            order(474..479,518,593)
                     /site_type="active"
                     /note="nucleotidyl binding site [active]"
                     /db_xref="CDD:143637"
     Site            order(474,518)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:143637"
     Site            666
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O43306; propagated from
                     UniProtKB/Swiss-Prot (O95622.3)"
     Region          668..761
                     /region_name="DUF1053"
                     /note="Domain of Unknown Function (DUF1053); pfam06327"
                     /db_xref="CDD:428889"
     Site            754
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q03343; propagated from
                     UniProtKB/Swiss-Prot (O95622.3)"
     Site            770..790
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95622.3)"
     Site            792..812
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95622.3)"
     Site            836..856
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95622.3)"
     Site            870
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95622.3)"
     Site            887
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95622.3)"
     Site            910..930
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95622.3)"
     Site            935..955
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95622.3)"
     Site            984..1004
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95622.3)"
     Site            1011
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q03343; propagated from
                     UniProtKB/Swiss-Prot (O95622.3)"
     Region          1062..1256
                     /region_name="Guanylate_cyc"
                     /note="Adenylate and Guanylate cyclase catalytic domain;
                     pfam00211"
                     /db_xref="CDD:425528"
     Site            order(1074,1076..1081,1123,1125..1127,1130,1197..1199,
                     1203..1204,1207..1208,1244)
                     /site_type="active"
                     /note="nucleotidyl binding site [active]"
                     /db_xref="CDD:143636"
     Site            order(1076,1127)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:143636"
     Site            order(1081,1097,1100..1101,1104,1108,1123..1124,1185,1188,
                     1198..1201,1204,1244)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143636"
     CDS             1..1261
                     /gene="ADCY5"
                     /gene_synonym="AC5; DSKOD; FDFM"
                     /coded_by="NM_183357.3:546..4331"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS3022.1"
                     /db_xref="GeneID:111"
                     /db_xref="HGNC:HGNC:236"
                     /db_xref="MIM:600293"
ORIGIN      
        1 msgsksvspp gyaaqktaap aprggpehrs awgeadsran gyphapggsa rgstkkpgga
       61 vtpqqqqrla srwrsddddd pplsgddpla ggfgfsfrsk sawqerggdd cgrgsrrqrr
      121 gaasggstra ppagggggsa aaaasaggte vrprsvevgl eerrgkgraa deleagaveg
      181 gegsgdggss adsgsgagpg avlslgaccl allqifrskk fpsdklerly qryffrlnqs
      241 sltmlmavlv lvclvmlafh aarpplqlpy lavlaaavgv ilimavlcnr aafhqdhmgl
      301 acyaliavvl avqvvglllp qprsasegiw wtvffiytiy tllpvrmraa vlsgvllsal
      361 hlaialrtna qdqfllkqlv snvlifsctn ivgvcthypa evsqrqafqe treciqarlh
      421 sqrenqqqer lllsvlprhv amemkadina kqedmmfhki yiqkhdnvsi lfadiegfts
      481 lasqctaqel vmtlnelfar fdklaaenhc lrikilgdcy ycvsglpear adhahccvem
      541 gmdmieaisl vrevtgvnvn mrvgihsgrv hcgvlglrkw qfdvwsndvt lanhmeaggk
      601 agrihitkat lnylngdyev epgcggerna ylkehsietf lilrctqkrk eekamiakmn
      661 rqrtnsighn pphwgaerpf ynhlggnqvs kemkrmgfed pkdknaqesa npedevdefl
      721 graidarsid rlrsehvrkf lltfrepdle kkyskqvddr fgayvacasl vflficfvqi
      781 tivphsifml sfyltcslll tlvvfvsviy scvklfpspl qtlsrkivrs kmnstlvgvf
      841 titlvflaaf vnmftcnsrd llgclaqehn isasqvnach vaesavnysl gdeqgfcgsp
      901 wpncnfpeyf tysvllslla csvflqisci gklvlmlaie liyvlivevp gvtlfdnadl
      961 lvtanaidff nngtsqcpeh atkvalkvvt piiisvfvla lylhaqqves tarldflwkl
     1021 qateekeeme elqaynrrll hnilpkdvaa hflarerrnd elyyqscecv avmfasianf
     1081 sefyvelean negveclrll neiiadfdei isedrfrqle kiktigstym aasglndsty
     1141 dkvgkthika ladfamklmd qmkyinehsf nnfqmkigln igpvvagvig arkpqydiwg
     1201 ntvnvasrmd stgvpdriqv ttdmyqvlaa ntyqlecrgv vkvkgkgemm tyflnggppl
     1261 s
//
LOCUS       XP_016855703            1022 aa            linear   PRI 20-MAR-2023
DEFINITION  forkhead-associated domain-containing protein 1 isoform X31 [Homo
            sapiens].
ACCESSION   XP_016855703
VERSION     XP_016855703.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017000214.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1022
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1022
                     /product="forkhead-associated domain-containing protein 1
                     isoform X31"
                     /calculated_mol_wt=117982
     Region          19..114
                     /region_name="FHA_FHAD1"
                     /note="forkhead associated (FHA) domain found in
                     forkhead-associated domain-containing protein 1 (FHAD1)
                     and similar proteins; cd22700"
                     /db_xref="CDD:438752"
     Region          36..>202
                     /region_name="VI_FHA"
                     /note="type VI secretion system FHA domain protein;
                     TIGR03354"
                     /db_xref="CDD:274537"
     Site            order(38..39,53..54,56,75,77..78)
                     /site_type="other"
                     /note="putative phosphopeptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438752"
     Region          261..964
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1022
                     /gene="FHAD1"
                     /coded_by="XM_017000214.3:205..3273"
                     /db_xref="GeneID:114827"
                     /db_xref="HGNC:HGNC:29408"
ORIGIN      
        1 mtslepcrlf iygktermka ylksaegffv lnksttigrh ensdlvlqsp didnhhalie
       61 yneaecsfvl qdfnsrngtf vnechiqnva vklipgdilr fgsagltyel vienpppvsf
      121 pwmrgpapwp gpqppratqq pnqapppshi pfhqgvqpap mqrswsqafp rptvvlpash
      181 rrpvsankem fsfvvddark ppvikqvwtn amklseksva egipgavppa eiyveedlaq
      241 qdkdeiilll gkevsrlsdy eieskykdvi ianlqnevae lsqkvsettt srqnekeisq
      301 kcqvldedid akqkeiqslk sqisalqkgy skvlcqtlse rnseitslkn egenlkrdna
      361 itsgmvsslq kdilakdeqv qqlkeevshl ksqnkdkdhq lealgsrcsv lkeelkqeda
      421 hrelreaqek elklcktqiq dmekemkklr aelrkscteq svisrtlrek skveeklqed
      481 srrkllqlqe mgnresviki nleravgqle hfrsqvikat ygrakpfrdk pvtdqqliek
      541 itqvtednin fqqkkwtlqk etqlsnskqe ettenieklr tsldscqacm kisccshdlk
      601 kevdllqhlq vsppvsglqk vvldvlrhal swleeveqll rdlgilpssp nkgfslyliy
      661 llehykklms qaqelqikfn ssqetqqsll qeklrehlae keklneerle qeeklkakir
      721 qlteekaale eyitqernra ketleeerkr mqelesllaq qkkalaksit qeknrvkeal
      781 eeeqtrvqel eerlarqkev lessiahekr kakealesek rkvqdlenhl tqqkeisesn
      841 iayekrkake amekekkkvq dlenrltkqk eelelkeqke dvlnnklsda lamveetqkt
      901 kateslkaes lalklnetla elettktkmi mveerlilqq kmvkalqdeq esqrhgfeee
      961 imeykeqikq haqtivslee klqkvtqhhk kiegeiatlk dndpemtywl lrrkfclsrk
     1021 ss
//
LOCUS       XP_047275572             304 aa            linear   PRI 20-MAR-2023
DEFINITION  barH-like 2 homeobox protein isoform X1 [Homo sapiens].
ACCESSION   XP_047275572
VERSION     XP_047275572.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419616.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..304
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..304
                     /product="barH-like 2 homeobox protein isoform X1"
                     /calculated_mol_wt=32934
     Site            order(233..237,239,256,262,275,277..278,281..282,284..285)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Site            order(235,238,278,281..282,285)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          236..284
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     CDS             1..304
                     /gene="BARHL2"
                     /coded_by="XM_047419616.1:108..1022"
                     /db_xref="GeneID:343472"
                     /db_xref="HGNC:HGNC:954"
                     /db_xref="MIM:605212"
ORIGIN      
        1 mtmegasgss fgidtilssa ssgspgmmng dfrplgeart adfrsqatps pcseidtvgt
       61 apsspisvtm eppephlvad atqhhhhlhh sqqppppaaa ptqslqplpq qqqplppqqp
      121 pppppqqlgs aasaprtsts sflikdilgd skplaacapy stsvssphht pkqesnavhe
      181 sfrpkleqed sktkldkred sqsdikchgt keegdreits sresppvrak kprkartafs
      241 dhqlnqlers ferqkylsvq drmdlaaaln ltdtqvktwy qnrrcyfsse traagippts
      301 spnq
//
LOCUS       XP_011540190             377 aa            linear   PRI 20-MAR-2023
DEFINITION  blood group Rh(CE) polypeptide isoform X1 [Homo sapiens].
ACCESSION   XP_011540190
VERSION     XP_011540190.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011541888.4
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 18% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..377
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..377
                     /product="blood group Rh(CE) polypeptide isoform X1"
                     /calculated_mol_wt=40719
     Region          14..337
                     /region_name="Ammonium_transp"
                     /note="Ammonium Transporter Family; cl03012"
                     /db_xref="CDD:445985"
     CDS             1..377
                     /gene="RHCE"
                     /gene_synonym="CD240CE; RH; RH30A; Rh4; RHC; RHCe(152N);
                     RHE; RhIVb(J); RHIXB; RHNA; RHPI; RhVI; RhVIII"
                     /coded_by="XM_011541888.4:314..1447"
                     /db_xref="GeneID:6006"
                     /db_xref="HGNC:HGNC:10008"
                     /db_xref="MIM:111700"
ORIGIN      
        1 mlsinpepev gqdltvmaal glgfltsnfr rhswssvafn lfmlalgvqw ailldgflsq
       61 fppgkvvitl fsirlatmsa msvlisagav lgkvnlaqlv vmvlvevtal gtlrmvisni
      121 fntdyhmnlr hfyvfaayfg ltvawclpkp lpkgtedndq ratipslsam lgalflwmfw
      181 psvnsallrs piqrknamfn tyyalavsvv taisgsslah pqrkismtyv hsavlaggva
      241 vgtschlips pwlamvlglv aglisiggak clpvccnrvl gihhisvmhs ifsllgllge
      301 ityivllvlh tvwngngmig fqvllsigel slaivialts glltglllnl kiwkaphvak
      361 yfddqvfwkf phlavgf
//
LOCUS       XP_016871671            2085 aa            linear   PRI 20-MAR-2023
DEFINITION  MAM and LDL-receptor class A domain-containing protein 1 isoform X4
            [Homo sapiens].
ACCESSION   XP_016871671
VERSION     XP_016871671.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017016182.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2085
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..2085
                     /product="MAM and LDL-receptor class A domain-containing
                     protein 1 isoform X4"
                     /calculated_mol_wt=232801
     Region          <44..155
                     /region_name="MAM"
                     /note="Meprin, A5 protein, and protein tyrosine
                     phosphatase Mu (MAM) domain. MAM is an extracellular
                     domain which mediates protein-protein interactions and is
                     found in a diverse set of proteins, many of which are
                     known to function in cell adhesion. Members...; cl27660"
                     /db_xref="CDD:452768"
     Region          199..347
                     /region_name="MAM"
                     /note="Meprin, A5 protein, and protein tyrosine
                     phosphatase Mu (MAM) domain. MAM is an extracellular
                     domain which mediates protein-protein interactions and is
                     found in a diverse set of proteins, many of which are
                     known to function in cell adhesion. Members...; cl27660"
                     /db_xref="CDD:452768"
     Region          363..394
                     /region_name="LDLa"
                     /note="Low-density lipoprotein receptor domain class A;
                     smart00192"
                     /db_xref="CDD:197566"
     Site            order(368,376,387..388)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(380,383,387,393..394)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            390..394
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          405..561
                     /region_name="MAM"
                     /note="Meprin, A5 protein, and protein tyrosine
                     phosphatase Mu (MAM) domain. MAM is an extracellular
                     domain which mediates protein-protein interactions and is
                     found in a diverse set of proteins, many of which are
                     known to function in cell adhesion. Members...; cd06263"
                     /db_xref="CDD:99706"
     Region          583..742
                     /region_name="MAM"
                     /note="Meprin, A5 protein, and protein tyrosine
                     phosphatase Mu (MAM) domain. MAM is an extracellular
                     domain which mediates protein-protein interactions and is
                     found in a diverse set of proteins, many of which are
                     known to function in cell adhesion. Members...; cd06263"
                     /db_xref="CDD:99706"
     Region          756..788
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(758,767,778..779)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(771,774,778,784..785)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            781..785
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          794..950
                     /region_name="MAM"
                     /note="Meprin, A5 protein, and protein tyrosine
                     phosphatase Mu (MAM) domain. MAM is an extracellular
                     domain which mediates protein-protein interactions and is
                     found in a diverse set of proteins, many of which are
                     known to function in cell adhesion. Members...; cd06263"
                     /db_xref="CDD:99706"
     Region          979..1014
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(984,993,1004..1005)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(997,1000,1004,1010..1011)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            1007..1011
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          1019..1182
                     /region_name="MAM"
                     /note="Meprin, A5 protein, and protein tyrosine
                     phosphatase Mu (MAM) domain. MAM is an extracellular
                     domain which mediates protein-protein interactions and is
                     found in a diverse set of proteins, many of which are
                     known to function in cell adhesion. Members...; cd06263"
                     /db_xref="CDD:99706"
     Region          1192..1224
                     /region_name="LDLa"
                     /note="Low-density lipoprotein receptor domain class A;
                     smart00192"
                     /db_xref="CDD:197566"
     Site            order(1198,1206,1217..1218)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(1210,1213,1217,1223..1224)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            1220..1224
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          1236..1390
                     /region_name="MAM"
                     /note="Meprin, A5 protein, and protein tyrosine
                     phosphatase Mu (MAM) domain. MAM is an extracellular
                     domain which mediates protein-protein interactions and is
                     found in a diverse set of proteins, many of which are
                     known to function in cell adhesion. Members...; cd06263"
                     /db_xref="CDD:99706"
     Region          1412..1446
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(1417,1425,1436..1437)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(1429,1432,1436,1442..1443)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            1439..1443
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          1450..1602
                     /region_name="MAM"
                     /note="Meprin, A5 protein, and protein tyrosine
                     phosphatase Mu (MAM) domain. MAM is an extracellular
                     domain which mediates protein-protein interactions and is
                     found in a diverse set of proteins, many of which are
                     known to function in cell adhesion. Members...; cd06263"
                     /db_xref="CDD:99706"
     Region          1613..1648
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(1619,1627,1638..1639)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(1631,1634,1638,1644..1645)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            1641..1645
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          1658..1819
                     /region_name="MAM"
                     /note="Meprin, A5 protein, and protein tyrosine
                     phosphatase Mu (MAM) domain. MAM is an extracellular
                     domain which mediates protein-protein interactions and is
                     found in a diverse set of proteins, many of which are
                     known to function in cell adhesion. Members...; cd06263"
                     /db_xref="CDD:99706"
     Region          1832..1867
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(1837,1846,1857..1858)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(1850,1853,1857,1863..1864)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            1860..1864
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          1876..1910
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(1881,1889,1900..1901)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(1893,1896,1900,1906..1907)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            1903..1907
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          1915..1951
                     /region_name="LDLa"
                     /note="Low Density Lipoprotein Receptor Class A domain, a
                     cysteine-rich repeat that plays a central role in
                     mammalian cholesterol metabolism; the receptor protein
                     binds LDL and transports it into cells by endocytosis; 7
                     successive cysteine-rich repeats of about...; cd00112"
                     /db_xref="CDD:238060"
     Site            order(1920,1929,1940..1941)
                     /site_type="active"
                     /note="putative binding surface [active]"
                     /db_xref="CDD:238060"
     Site            order(1933,1936,1940,1947..1948)
                     /site_type="other"
                     /note="calcium-binding site [ion binding]"
                     /db_xref="CDD:238060"
     Site            order(1943,1945..1948)
                     /site_type="other"
                     /note="D-X-S-D-E motif"
                     /db_xref="CDD:238060"
     Region          1954..1984
                     /region_name="EGF"
                     /note="EGF-like domain; pfam00008"
                     /db_xref="CDD:394967"
     CDS             1..2085
                     /gene="MALRD1"
                     /gene_synonym="bA265G8.2; C10orf112; DIET1"
                     /coded_by="XM_017016182.1:192..6449"
                     /db_xref="GeneID:340895"
                     /db_xref="HGNC:HGNC:24331"
                     /db_xref="MIM:617715"
ORIGIN      
        1 mgftakvigf ssqslihgfc cfhilytsff viklgisfqn ltthflslvs rvdsissslr
       61 srvflptndq hdcqitfyyf scqvsgklmv glqtacggpi qhlwqntaal pnqwernvik
      121 iqssqrfqvv fegqmastye qdeviaiddi sfssgclpan dgillcqeal naerelchpd
      181 tdlcrfdatd eelrlcqacg fefdmcewts easagqiswm rtkareipaf estpqqdqgg
      241 ddegyyvwvg akhgftlnhl dsraylnssv chclgkschl qfyyamessv lrvrlynnke
      301 eeifwtynis thsqwvkadv lipedlktfk iifegtllsq rsfialdhlw vyacgqtqsr
      361 klcsadefpc tsgqciakes vcdsrqdcsd esdedpatcs khltcdfesg fcgwepflte
      421 dshwklmkgl nngehhfpaa dhtaninhgs fiyleaqrsp gvaklgspvl tklltastpc
      481 qvqfwyhlsq hsnlsvftrt sldgnlqkqg kiirfsesqw shakidliae agestlpfql
      541 ileatvlssn atvalddisv sqeceisyks lprtstqskf skcdfeansc dwfeaisgdh
      601 fdwirssqse lsadfehqap prdhslnasq ghfmfilkks sslwqvaklq sptfsqtgpg
      661 cilsfwfyny glsvgaaelq lhmenshdst viwrvlynqg kqwleatiql grlsqpfhls
      721 ldkvslgiyd gvsaiddirf enctlplpae scegldhfwc rhtraciekl rlcdlvddcg
      781 drtdevncap elqcnfetgi cnweqdakdd fdwtrsqgpt ptlntgpmkd ntlgtakghy
      841 lyiessepqa fqdsaallsp ilnatdtkgc tfrfyyhmfg kriyrlaiyq riwsdsrgql
      901 lwqifgnqgn rwirkhlnis srqpfqilve asvgdgftgd iaiddlsfmd ctlypgnlpa
      961 dlptppetsv pvtlpphnct dneficrsdg hciekmqkcd fkydcpdksd eascvmevcs
     1021 fekrslckwy qpipvhllqd sntfrwglgn gisihhgeen hrpsvdhtqn ttdgwylyad
     1081 ssngkfgdta diltpiislt gpkctlvfwt hmngatvgsl qvlikkdnvt sklwaqtgqq
     1141 gaqwkraevf lgirshtqiv frakrgisyi gdvavddisf qdcspllspe rkctdhefmc
     1201 ankhciakdk lcdfvndcad nsdettficr tssgrcdfef dlcswkqekd edfdwnlkas
     1261 sipaagtepa adhtlgnssg hyifikslfp qqpmraaris spviskrskn ckiifhyhmy
     1321 gngigaltlm qvsvtnqtkv llnltveqgn fwrreelslf gdedfqlkfe grvgkgqrgd
     1381 ialddivlte nclslhdsvq eelavplptg fcplgyrech ngkcyrleqs cnfvdncgdn
     1441 tdenecgssc tfekgwcgwq nsqadnfdwv lgvgshqslr ppkdhtlgne nghfmyleat
     1501 avglrgdkah frstmwress aactmsfwyf vsakatgsiq iliktekgls kvwqeskqnp
     1561 gnhwqkadil lgklrnfevi fqgirtrdlg ggaaiddief kncttvgeis elcpeitdfl
     1621 crdkkciash llcdykpdcs drsdeahcah ytsttgscnf etssgnwtta csltqdsedd
     1681 ldwaigsrip akalipdsdh tpgsgqhfly vnssgskegs varittsksf paslgmctvr
     1741 fwfymidprs mgilkvytie esglnilvws vignkrtgwt ygsvplssns pfkvafeadl
     1801 dgnedifial ddisftpecv tggpvpvqps pceadqfsci ytlqcvplsg kcdghedcid
     1861 gsdemdcpls ptpplcsnme fpcstdecip slllcdgvpd chfnedelic snkscsngal
     1921 vcassnscip ahqrcdgfad cmdfqldess csecplnycr nggtcvvekn gpmcrcrqgw
     1981 kgnrchikfn ppatdftyaq nntwtllgig laflmthitv avlcflanrk vpirktegsg
     2041 ncafvnpvyg nwsnpektes svysfsnply gttsgsletl shhlk
//
LOCUS       XP_006718141             377 aa            linear   PRI 20-MAR-2023
DEFINITION  multiple inositol polyphosphate phosphatase 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_006718141
VERSION     XP_006718141.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006718078.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..377
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..377
                     /product="multiple inositol polyphosphate phosphatase 1
                     isoform X1"
                     /calculated_mol_wt=41515
     Region          82..>310
                     /region_name="HP"
                     /note="Histidine phosphatase domain found in a
                     functionally diverse set of proteins, mostly phosphatases;
                     contains a His residue which is phosphorylated during the
                     reaction; cl11399"
                     /db_xref="CDD:448243"
     CDS             1..377
                     /gene="MINPP1"
                     /gene_synonym="HIPER1; MINPP2; MIPP; PCH16"
                     /coded_by="XM_006718078.4:24..1157"
                     /db_xref="GeneID:9562"
                     /db_xref="HGNC:HGNC:7102"
                     /db_xref="MIM:605391"
ORIGIN      
        1 mlrapgcllr tsvapaaala aallsslarc slleprdpva sslspyfgtk tryedvnpvl
       61 lsgpeapwrd pellegtctp vqlvalirhg tryptvkqir klrqlhgllq argsrdggas
      121 stgsrdlgaa ladwplwyad wmdgqlvekg rqdmrqlalr laslfpalfs renygrlrli
      181 tsskhrcmds saaflqglwq hyhpglpppd vadmefgppt vndklmrffd hcekflteve
      241 knatalyhve afktgpemqn ilkkvaatlq vpvndlnadl iqvafftcsf dlaikgvksp
      301 wcdvfdidda kvsanffssh ppvwscrdss stafshgllq rqgtpnsvql qktnasevpk
      361 wshctlclep dicalpl
//
LOCUS       XP_011536630             120 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 233 isoform X2 [Homo sapiens].
ACCESSION   XP_011536630
VERSION     XP_011536630.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011538328.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..120
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..120
                     /product="transmembrane protein 233 isoform X2"
                     /calculated_mol_wt=13027
     Region          33..88
                     /region_name="CD225"
                     /note="Interferon-induced transmembrane protein;
                     pfam04505"
                     /db_xref="CDD:427986"
     CDS             1..120
                     /gene="TMEM233"
                     /gene_synonym="DSPB2; IFITMD2"
                     /coded_by="XM_011538328.4:76..438"
                     /db_xref="GeneID:387890"
                     /db_xref="HGNC:HGNC:37219"
                     /db_xref="MIM:618296"
ORIGIN      
        1 msqyapspdf kraldsspea nteddkteed vpmpknylwl tivscfcpay pinivalvfs
       61 imslnsyndg dyegarrlgr nakwvaiasi iiglliigis cavhftrkga gksdirgvea
//
LOCUS       XP_047287056             713 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and BTB domain-containing protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047287056
VERSION     XP_047287056.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431100.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..713
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..713
                     /product="zinc finger and BTB domain-containing protein 1
                     isoform X1"
                     /calculated_mol_wt=81885
     Region          3..116
                     /region_name="BTB_POZ_ZBTB1"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in zinc finger and
                     BTB domain-containing protein 1 (ZBTB1); cd18192"
                     /db_xref="CDD:349501"
     Region          536..574
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          580..600
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(585,587,589,591..592,595..596,599,613,615,619..620,
                     623..624,627,641,644,646,648..649,651..652,655)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          608..628
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          636..656
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          664..684
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          688..709
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     CDS             1..713
                     /gene="ZBTB1"
                     /gene_synonym="ZNF909"
                     /coded_by="XM_047431100.1:278..2419"
                     /db_xref="GeneID:22890"
                     /db_xref="HGNC:HGNC:20259"
                     /db_xref="MIM:616578"
ORIGIN      
        1 makpshssyv lqqlnnqrew gflcdcciai ddiyfqahka vlaacssyfr mffmnhqhst
       61 aqlnlsnmki saecfdlilq fmylgkimta pssfeqfkva mnylqlynvp dclediqdad
      121 cssskcsssa sskqnskmif gvrmyedtva rngneanrwc aepsstvntp hnreadeesl
      181 qlgnfpeplf dvckkssvsk lstpkervsr rfgrsftcds cgfgfscekl ldehvltctn
      241 rhlyqntrsy hrivdirdgk dsnikaefge kdssktfsaq tdkyrgdtsq aaddsasttg
      301 srksstvese iaseeksraa erkriiikme pediptdelk dfniikvtdk dcnestdnde
      361 ledepeepfy ryyveedvsi kksgrktlkp rmsvsaderg glenmrppnn sspvqedaen
      421 ascelcglti teedlsshyl akhienicac gkcgqilvkg rqlqehaqrc gepqdltmng
      481 lgnteekmdl eenpdeqsei rdmfvemldd frdnhyqins iqkkqlfkhs acpfrcpncg
      541 qrfetenlvv ehmsscldqd mfksaimeen erdhrrkhfc nlcgkgfyqr chlrehytvh
      601 tkekqfvcqt cgkqflrerq lrlhndmhkg maryvcsicd qgnfrkhdhv rhmishlsag
      661 eticqvcfqi fpnneqleqh mdvhlytcgi cgakfnlrkd mrshynakhl krt
//
LOCUS       XP_016876759             623 aa            linear   PRI 20-MAR-2023
DEFINITION  60 kDa lysophospholipase isoform X7 [Homo sapiens].
ACCESSION   XP_016876759
VERSION     XP_016876759.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017021270.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..623
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..623
                     /product="60 kDa lysophospholipase isoform X7"
                     /calculated_mol_wt=65680
     Region          102..389
                     /region_name="L-asparaginase_like"
                     /note="Bacterial L-asparaginases and related enzymes;
                     cl00216"
                     /db_xref="CDD:444757"
     Site            order(109,112..118,120..121,145..146,149,171..172,
                     216..221,265..275,277..278,281,284..285,294,296..298,302,
                     326,329..333,336,355,359,363)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:199207"
     Region          436..>504
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          461..492
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..623
                     /gene="ASPG"
                     /gene_synonym="C14orf76; GPA/WT; hASNase1; LYSOLP"
                     /coded_by="XM_017021270.1:469..2340"
                     /db_xref="GeneID:374569"
                     /db_xref="HGNC:HGNC:20123"
                     /db_xref="MIM:618472"
ORIGIN      
        1 magpspplra gvgrrllgva hpdlrpclcg elqveggpgp vpgmlrtcyv rspwrrgpss
       61 argeqsgsgh leqeevqsgs llfrlllfls rspasrnqri lytvlecqpl fdssdmtiae
      121 wvclaqtikr hyeqyhgfvv ihgtdtmafa asmlsfmlen lqktviltga qvpihalwsd
      181 grenllgall magqyvipev clffqnqlfr gnratkvdar rfaafcspnl lplatvgadi
      241 tinrelvrkv dgkaglvvhs smeqdvgllr lypgipaalv raflqpplkg vvmetfgsgn
      301 gptkpdllqe lrvaterglv ivncthclqg avttdyaagm amagagvisg fdmtseaala
      361 klsyvlgqpg lsldvrkell tkdlrgemtp psveerrpsl qgntlgggvs wllslsgsqe
      421 adalrnalvp slacaaahag dvealqalve lgsdlglvdf ngqtplhaaa rgghteavtm
      481 llqrgvdvnt rdtdgfspll lavrgrtrlt arpqpvsqpr saarlpeaac lallclsgas
      541 gchwvaagsr glpvhpgagg srdgavqpes lpptpclvpg dlalppvpsl gcprpgrlrg
      601 tqkgeseagd lgrvqvvagv gvl
//
LOCUS       XP_016876807             789 aa            linear   PRI 20-MAR-2023
DEFINITION  melanoma inhibitory activity protein 2 isoform X16 [Homo sapiens].
ACCESSION   XP_016876807
VERSION     XP_016876807.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017021318.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..789
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..789
                     /product="melanoma inhibitory activity protein 2 isoform
                     X16"
                     /calculated_mol_wt=89285
     Region          <45..>484
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     CDS             1..789
                     /gene="MIA2"
                     /gene_synonym="CTAGE5; MEA6; MGEA; MGEA11; MGEA6; TALI"
                     /coded_by="XM_017021318.2:143..2512"
                     /db_xref="GeneID:4253"
                     /db_xref="HGNC:HGNC:18432"
                     /db_xref="MIM:602132"
ORIGIN      
        1 mrpdsnlygf pwelvicaav vgffavlffl wrsfrsvrsr lyvgrekkla lmlsglieek
       61 skllekfslv qkeyegyeve sslkdasfek eateaqslev enqmfvegsq iseatcekln
      121 rsnseledei lclekelkee kskhseqdel madiskriqs ledeskslks qvaeakmtfk
      181 ifqmneerlk iaikdalnen sqlqesqkql lqeaevwkeq vselnkqkvt fedskvhaeq
      241 vlndkeshik tlterllkmk dwaamlgedi tdddnlelem nsesengayl dnppkgalkk
      301 lihaaklnas lktlegernq iyiqlsevdk tkeeltehik nlqteqaslq senthfenen
      361 qklqqklkvm telyqenemk lhrkltveen yrlekeekls kvdekishat eeletyrkra
      421 kdleeelert ihsyqgqiis hekkahdnwl aarnaernln dlrkenahnr qkltetelkf
      481 ellekdpyal dvpntafgre hspygpsplg wpssetrafl spptllegpl rlspllpggg
      541 grgsrgpgnp ldhqitnerg esscdrltdp hrapsdtgsl sppwdqdrrm mfpppgqsyp
      601 dsalppqrqd rfcsnsgrls gpaelrsfnm psldkmdgsm psemessrnd tkddlgnlnv
      661 pdsslpaene atgpgfvppp lapirgplfp vdargpflrr gppfpppppg amfgasrdyf
      721 ppgdfpgppp apfamrnvyp prgfppylpp rpgffpppph segrsefpsg lippsnepat
      781 ehpepqqet
//
LOCUS       XP_047288186             565 aa            linear   PRI 20-MAR-2023
DEFINITION  protein PAT1 homolog 2 isoform X3 [Homo sapiens].
ACCESSION   XP_047288186
VERSION     XP_047288186.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432230.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..565
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..565
                     /product="protein PAT1 homolog 2 isoform X3"
                     /calculated_mol_wt=63489
     Region          <263..>413
                     /region_name="PAT1"
                     /note="Topoisomerase II-associated protein PAT1;
                     pfam09770"
                     /db_xref="CDD:401645"
     CDS             1..565
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; Pat1a"
                     /coded_by="XM_047432230.1:648..2345"
                     /db_xref="GeneID:197135"
                     /db_xref="HGNC:HGNC:33630"
                     /db_xref="MIM:614661"
ORIGIN      
        1 mnclegpgkt cgplaseeel vsacqlekee enegeeeeee edeedldpdl dpdleeeend
       61 lgdpavlgav hntqrallss pgvkapgmlg mslaslhflw qtldylspip fwptfpstss
      121 paqhfgprlp spdptlfcsl ltswpprfsh ltqlhprhqr ilqqqqhsqt psppakkpws
      181 qqpdpyanlm trkekdwvik vqmvqlqsak prlddyyyqe yyqklekkqa deellgrrnr
      241 veslklvtpy ipkaeayesv vriegslgqv avstcfsprr aidavphgtq eqdieaassq
      301 rlrvlyriek mflqlleiee gwkyrppppc fseqqsnqve klfqtlktqe qnnleeaadg
      361 flqvlsvrkg kalvarllpf lpqdqavtil laithhlpll vrrdvadqal qmlfkplgkc
      421 ishltlhell qglqgltllp pgsserpvtv vlqnqdrhgg sdclgdspna yslsgrtpsf
      481 pqqptspvls prgqtigsaa ggqdgvcldl liclfwntcm wevessdtsy idyvyrdpes
      541 lktflmplyi gepfpifisf lqksk
//
LOCUS       XP_005255615             554 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 205 isoform X1 [Homo sapiens].
ACCESSION   XP_005255615
VERSION     XP_005255615.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005255558.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..554
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..554
                     /product="zinc finger protein 205 isoform X1"
                     /calculated_mol_wt=60499
     Region          124..>168
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          <306..486
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          310..330
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(310,313,326,330)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(315,317,319,321..322,325..326,329,343,345,349..350,
                     353..354,357,371,373,375,377..378,381..382,385)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          338..358
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          366..386
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          394..414
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          422..442
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(422,425,438,442)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(427,429,431,433..434,437..438,441,455,457,461..462,
                     465..466,469,483,485,487,489..490,493..494,497)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          450..470
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          476..498
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          478..498
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          504..526
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          506..526
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..554
                     /gene="ZNF205"
                     /gene_synonym="RhitH; Zfp13; ZNF210"
                     /coded_by="XM_005255558.3:380..2044"
                     /db_xref="GeneID:7755"
                     /db_xref="HGNC:HGNC:12996"
                     /db_xref="MIM:603436"
ORIGIN      
        1 msadgggiqd tqdketppev pdrghphqem psklgeavps gdtqeslhik mepeephseg
       61 asqedgaqga wgwaplshgs kekalflpgg alpspripvl sregrtrdrq maaalltaws
      121 qmpvtfedva lylsreewgr ldhtqqnfyr dvlqkkngls lgfpfsrpfw apqahgkgea
      181 sgssrqagde kewrgactga vevgqrvqts svaalgnvkp frtragrvqw gvpqcaqeaa
      241 cgrssgpakd sgqpaepdrt pdaappdpsp tepqeyrvpe kpneeekgap esgeeglapd
      301 sevgrksyrc eqcgkgfswh shlvthrrth tgekpyactd cgkrfgrssh liqhqiihtg
      361 ekpytcpacr ksfshhstli qhqrihtgek pyvcdrcakr ftrrsdlvth qgthtgakph
      421 kcpicakcft qssalvthqr thtgvkpypc pecgkcfsqr snliahnrth tgekpyhcld
      481 cgksfshssh ltahqrthrg vrpyacplcg ksfsrrsnlh rhekihttgp kalamlmlga
      541 aaagalatpp papt
//
LOCUS       XP_011525794             600 aa            linear   PRI 20-MAR-2023
DEFINITION  SH3KBP1-binding protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_011525794
VERSION     XP_011525794.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011527492.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..600
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..600
                     /product="SH3KBP1-binding protein 1 isoform X4"
                     /calculated_mol_wt=64387
     Region          18..120
                     /region_name="BTB_POZ_SHKBP1"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in SH3KBP1-binding
                     protein 1 (SHKBP1); cd18393"
                     /db_xref="CDD:349701"
     CDS             1..600
                     /gene="SHKBP1"
                     /gene_synonym="PP203; Sb1"
                     /coded_by="XM_011527492.3:28..1830"
                     /db_xref="GeneID:92799"
                     /db_xref="HGNC:HGNC:19214"
                     /db_xref="MIM:617322"
ORIGIN      
        1 maaaataaeg vpsrgppgev ihlnvggkrf stsrqtltwi pdsffsslls gristlkdet
       61 gaifidrdpt vfapilnflr tkeldprgvh gssllheaqf ygltplvrrl qlreeldrss
      121 cgnvlfngyl pppvfpvkrr nrhslvgpqq lggrpapvrr sntmppnlgn agllgrmlde
      181 ktppspsgqp eepgmvrlvc ghhnwiavay tqflvcyrlk easgwqlvfs sprldwpier
      241 laltarvhgg algehdkmva aatgseillw alqaegggse igdsgnwiei aygtssggvr
      301 vivqhpetvg sgpqlfqtft vhrspvtkim lsekhlisvc adnnhvrtws vtrfrgmist
      361 qpgstplasf kilalesadg hggcsagndi gpygerddqq vfiqkvvpsa sqlfvrlsst
      421 gqrvcsvrsv dgspttaftv lecegsrrlg srprrylltg qangslamwd lttamdglgq
      481 apagglteqe lmeqlehcel appapsapsw gclpspspri sltslhsass ntslsghrgs
      541 psppqaearr rgggsfverc qelvrsgpdl rrpptpapwp ssglgtpltp pkmklnetsf
//
LOCUS       XP_047300234            1354 aa            linear   PRI 20-MAR-2023
DEFINITION  AF4/FMR2 family member 3 isoform X5 [Homo sapiens].
ACCESSION   XP_047300234
VERSION     XP_047300234.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444278.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1354
                     /product="AF4/FMR2 family member 3 isoform X5"
                     /calculated_mol_wt=146733
     Region          149..601
                     /region_name="AF-4"
                     /note="AF-4 proto-oncoprotein; pfam05110"
                     /db_xref="CDD:428310"
     Region          894..907
                     /region_name="AF4_int"
                     /note="AF4 interaction motif; pfam18875"
                     /db_xref="CDD:436798"
     Region          1093..1353
                     /region_name="AF-4_C"
                     /note="AF-4 proto-oncoprotein C-terminal region;
                     pfam18876"
                     /db_xref="CDD:436799"
     CDS             1..1354
                     /gene="AFF3"
                     /gene_synonym="KINS; LAF4; MLLT2-like"
                     /coded_by="XM_047444278.1:3992..8056"
                     /db_xref="GeneID:3899"
                     /db_xref="HGNC:HGNC:6473"
                     /db_xref="MIM:601464"
ORIGIN      
        1 mtlrldaggi pslaprvyis gspsqrflpr krnkgesagr dsllagsarf gsrgeaqlqg
       61 sellsrnsge slvrirscgq elitclsrpe tggkfevdtq rpvcppsrar aarasaaava
      121 aaatltpptm dsfdlallqe wdleslcvye pdrnalrrke rerrnqetqq ddgtfnssys
      181 lfsepyktnk gdelsnriqn tlgnydemkd fltdrsnqsh lvgvpkpgvp qtpvnkideh
      241 fvadsraqnq pssicsttts tpaavpvqqs krgtmgwqka ghppsdgqqr atqqgslrtl
      301 lgdgvgrqqp rakqvcnvev glqtqerppa maakhsssgh cvqnfppsla skpslvqqkp
      361 tayvrpmdgq dqapdespkl ksssetsvhc tsyrgvpask peparakakl skfsipkqge
      421 esrsgetnsc veeiiremtw lpplsaiqap gkveptkfpf pnkdsqlvss ghnnpkkgda
      481 epespdngts ntsmleddlk lssdeeeneq aaqrtalral sdsavvqqpn crtsvpsskg
      541 sssssssgss ssssdsesss gsdsetesss sesegskpph fsspeaepas snkwqldkwl
      601 nkvnphkppi liqneshgse snqyynpvke dvqdcgkvpd vcqpslreke ikstckeeqr
      661 prtankapgs kgvkqksppa avavavsaaa pppavpcapa enapaparrs agkkptrrte
      721 rtsagdganc hrpeepaaad algtsvvvpp eptktrpcgn nrashrkelr ssvtcekrrt
      781 rglsrivpks kefietesss sssssdsdle seqeeyplsk aqtvaasass gndqrlkeaa
      841 anggsgprap vgsinartts diakeleeqf ytlvpfgrne llsplkdsde irslwvkidl
      901 tllsripehl pqepgvlsap atkdsesapp shtsdtpaek alpkskrkrk cdneddyrei
      961 kksqgekdss srlatstsnt lsanhcnmni nsvaipinkn ekmlrspisp lsdaskhkyt
     1021 sedltsssrp ngnslftsas sskkpkadsq lqphggdltk aahnnsenip lhksrpqtkp
     1081 wspgsnghrd ckrqklvfdd mprsadyfmq eakrmkhkad amvekfgkal nyaeaalsfi
     1141 ecgnameqgp meskspytmy setvelirya mrlkthsgpn atpedkqlaa lcyrclally
     1201 wrmfrlkrdh avkyskalid yfknsskaaq apspwgasgk stgtpspmsp npspassvgs
     1261 qgslsnasal spstivsipq rihqmaanhv sitnsilhsy dywemadnla kenreffndl
     1321 dllmgpvtlh ssmehlvqys qqglhwlrns ahls
//
LOCUS       XP_024308743             484 aa            linear   PRI 20-MAR-2023
DEFINITION  threonine synthase-like 2 isoform X1 [Homo sapiens].
ACCESSION   XP_024308743
VERSION     XP_024308743.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024452975.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..484
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..484
                     /product="threonine synthase-like 2 isoform X1"
                     /calculated_mol_wt=53985
     Region          2..464
                     /region_name="Thr-synth_2"
                     /note="Threonine synthase catalyzes the final step of
                     threonine biosynthesis. The conversion of
                     O-phosphohomoserine into threonine and inorganic phosphate
                     is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD
                     includes members from higher plants, cyanobacteria;
                     cd01560"
                     /db_xref="CDD:107203"
     Site            order(113,261..262,418)
                     /site_type="other"
                     /note="pyridoxal 5'-phosphate binding site [chemical
                     binding]"
                     /db_xref="CDD:107203"
     Site            113
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:107203"
     CDS             1..484
                     /gene="THNSL2"
                     /gene_synonym="SOFAT; THS2; TSH2"
                     /coded_by="XM_024452975.2:110..1564"
                     /db_xref="GeneID:55258"
                     /db_xref="HGNC:HGNC:25602"
                     /db_xref="MIM:611261"
ORIGIN      
        1 mwyvstrgva prvnfegalf sgyapdgglf mpeelpqldr gtlcqwstls ypglvkelca
       61 lfigsellpk delndlidra fsrfrhrevv hlsrlrngln vlelwhgvty afkdlslsct
      121 tqflqyflek rekhvtvvvg tsgdtgsaai esvqgaknmd iivllpkghc tkiqelqmtt
      181 vlkqnvhvfg vegnsdelde piktvfadva fvkkhnlmsl nsinwsrvlv qmahhffayf
      241 qctpsldthp lplvevvvpt gaagnlaagy iaqkiglpir lvvavnrndi ihrtvqqgdf
      301 slseavkstl asamdiqvpy nmervfwlls gsdsqvtral meqfertqsv nlpkelhskl
      361 seavtsvsvs deaitqtmgr cwdenqyllc phsavavnyh yqqidrqqps tprcclapas
      421 aakfpeavla agltpetpae ivalehketr ctlmrrgdnw mlmlrdtied lsrqwrshal
      481 ntsq
//
LOCUS       XP_016883104              76 aa            linear   PRI 20-MAR-2023
DEFINITION  cAMP-dependent protein kinase inhibitor gamma isoform X1 [Homo
            sapiens].
ACCESSION   XP_016883104
VERSION     XP_016883104.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027615.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..76
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..76
                     /product="cAMP-dependent protein kinase inhibitor gamma
                     isoform X1"
                     /calculated_mol_wt=7779
     Region          2..69
                     /region_name="PKI"
                     /note="cAMP-dependent protein kinase inhibitor; pfam02827"
                     /db_xref="CDD:427008"
     CDS             1..76
                     /gene="PKIG"
                     /gene_synonym="PKI-gamma"
                     /coded_by="XM_017027615.2:331..561"
                     /db_xref="GeneID:11142"
                     /db_xref="HGNC:HGNC:9019"
                     /db_xref="MIM:604932"
ORIGIN      
        1 mmevessysd fiscdrtgrr navpdiqgds eavsvrklag dmgelalega egqvegsapd
       61 keagnqpqss dgttss
//
LOCUS       XP_016883231            2082 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor coactivator 6 isoform X3 [Homo sapiens].
ACCESSION   XP_016883231
VERSION     XP_016883231.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027742.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2082
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..2082
                     /product="nuclear receptor coactivator 6 isoform X3"
                     /calculated_mol_wt=221210
     Region          48..190
                     /region_name="Nucleic_acid_bd"
                     /note="Putative nucleic acid-binding region; pfam13820"
                     /db_xref="CDD:433501"
     Region          <185..486
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          532..>857
                     /region_name="Med15"
                     /note="ARC105 or Med15 subunit of Mediator complex
                     non-fungal; pfam09606"
                     /db_xref="CDD:312941"
     Region          <1075..1321
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..2082
                     /gene="NCOA6"
                     /gene_synonym="AIB3; ASC2; NRC; PRIP; RAP250; TRBP"
                     /coded_by="XM_017027742.3:344..6592"
                     /db_xref="GeneID:23054"
                     /db_xref="HGNC:HGNC:15936"
                     /db_xref="MIM:605299"
ORIGIN      
        1 mvlddlpnle diytslcsst medsemdfds gledddtksd siledstifv afkgniddkd
       61 fkwkldailk nvpnllhmes sklkvqkvep wnsvrvtfni preaaerlri laqsnnqqlr
      121 dlgilsvqie gegainlala qnrsqdvrmn gpmgagnsvr meagfpmasg pgiirmnnpa
      181 tvmippggnv sssmmapgpn pelqprtprp asqsdamdpl lsglhiqqqs hpsgslapph
      241 hpmqpvsvnr qmnpanfpql qqqqqqqqqq qqqqqqqqqq qqqqqlqarp pqqhqqqqpq
      301 girpqftapt qvpvppgwnq lpsgalqppp aqgslgtmta nqgwkkaplp gpmqqqlqar
      361 pslatvqtps hppppypfgs qqasqahtnf pqmsnpgqft apqmkslqgg psrvptplqq
      421 phltnkspas spssfqqgsp assptvnqtq qqmgprppqn nplpqgfqqp vsspgrnpmv
      481 qqgnvppnfm vmqqqppnqg pqslhpglge ksepsnlava wpqitfreqi aifslacsks
      541 gqanpnfmqg qvpsttattp gnsgapqlqa nqnvqhaggq gagppqnqmq vshgppnmmq
      601 pslmgihgnm nnqqagtsgv pqvnlsnmqg qpqqgppsql mgmhqqivps qgqmvqqqgt
      661 lnpqnpmils raqlmpqgqm mvnppsqnlg pspqrmtppk qmlsqqgpqm maphnqmmgp
      721 qgqvllqqnp mieqimtnqm qgnkqqfntq nqsnvmpgpa qimrgptpnm qgnmvqftgq
      781 msgqmlpqqg pvnnspsqvm giqgqvlrpp gpsphmaqqh gdpattannd vslsqmmpdv
      841 siqqtnmvpp hvqamqgnsa sgnhfsghgm sfnapfsgap ngnqmscgqn pgfpvnkdvt
      901 ltspllvnll qsdisaghfg vnnkqnntna nkpkkkkppr kkknsqqdln tpdtrpagle
      961 eadqpplpge qginldnsgp klpefsnrpp gypsqpveqr plqqmppqlm qhvapppqpp
     1021 qqqpqpqlpq qqqppppsqp qsqqqqqqqq qmmmmlmmqq dpksvrlpvs qnvhpprgpl
     1081 npdsqrmpmq qsgsvpvmvs lqgpasvpps pdkqrmpmpv ntplgsnsrk mvyqespqnp
     1141 sssplaemas lpeasgseap svpggpnnmp shvvlpqnql mmtgpkpgps plsatqgatp
     1201 qqppvnslps shghhfpnva aptqtsrpkt pnrasprpyy pqtpnnrpps tepseislsp
     1261 erlnasiagl fppqiniplp prpnlnrgfd qqglnpttlk aigqapsnlt mnpsnfatpq
     1321 thkldsvvvn sgkqsnsgat kraspsnsrr sspgssrktt pspgrqnska pkltlasqtn
     1381 aallqnvelp rnvlvsptpl anppvpgsfp nnsglnpqns tvsvaavggv vednkeslnv
     1441 pqdsdcqnsq srkeqvniel kavpaqevkm vvpedqskkd gqpsdpnklp sveenknlvs
     1501 pamreaptsl sqlldnsgap nvtikppglt dlevtppvvs gedlkkasvi ptlqdlsssk
     1561 epsnslnlph snelcsslvh pelsevssnv apsippvmsr pvssssistp lppnqitvfv
     1621 tsnpittsan tsaalpthlq salmstvvtm pnagskvmvs egqsaaqsna rpqfitpvfi
     1681 nsssiiqvmk gsqpstipaa plttnsglmp psvavvgplh ipqnikfssa pvppnalsss
     1741 papniqtgrp lvlssratpv qlpsppctss pvvpshppvq qvkelnpdea spqvntsadq
     1801 ntlpssqstt mvsplltnsp gssgnrrspv ssskgkgkvd kigqilltka ckkvtgslek
     1861 geeqygadge tegqgldtta pglmgteqls teldsktptp paptllkmts spvgpgtasa
     1921 gpslpggalp tsvrsivttl vpselisavp ttksnhggia seslagglve ekvgshpell
     1981 psiapsqnlv sketsttalq asvarpelev naaivsgqss epkeiveksk ipgrrnsrte
     2041 eptvasesve nghrkrssrp asassstkdi tsavqskrrk sk
//
LOCUS       XP_047296783             436 aa            linear   PRI 20-MAR-2023
DEFINITION  homeobox protein PKNOX1 isoform X1 [Homo sapiens].
ACCESSION   XP_047296783
VERSION     XP_047296783.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440827.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..436
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..436
                     /product="homeobox protein PKNOX1 isoform X1"
                     /calculated_mol_wt=47476
     Region          80..165
                     /region_name="Meis_PKNOX_N"
                     /note="N-terminal of Homeobox Meis and PKNOX1; pfam16493"
                     /db_xref="CDD:435375"
     Site            order(260..264,266,286,292,305,307..308,311..312,314..316)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Site            order(262,265,308,311..312,315)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          278..316
                     /region_name="Homeobox_KN"
                     /note="Homeobox KN domain; pfam05920"
                     /db_xref="CDD:428673"
     CDS             1..436
                     /gene="PKNOX1"
                     /gene_synonym="pkonx1c; PREP1"
                     /coded_by="XM_047440827.1:4867..6177"
                     /db_xref="GeneID:5316"
                     /db_xref="HGNC:HGNC:9022"
                     /db_xref="MIM:602100"
ORIGIN      
        1 mmatqtlsid syqdgqqmqv vtelkteqdp ncsepdaegv spppvesqtp mdvdkqaiyr
       61 hplfpllall fekceqstqg segttsasfd vdienfvrkq ekegkpffce dpetdnlmvk
      121 aiqvlrihll elekvnelck dfcsryiacl ktkmnsetll sgepgspysp vqsqqiqsai
      181 tgtispqgiv vpasalqqgn vamatvaggt vyqpvtvvtp qgqvvtqtls pgtiriqnsq
      241 lqlqlnqdls ilhqddgssk nkrgvlpkha tnvmrswlfq highpypted ekkqiaaqtn
      301 ltllqvnnwf inarrrilqp mldsscsetp ktkkktaqnr pvqrfwpdsi asgvaqppps
      361 eltmsegavv tittpvnmnv dslqslssdg atlavqqvmm agqsedesvd steedagala
      421 pahisglvle nsdslq
//
LOCUS       XP_047296830             345 aa            linear   PRI 20-MAR-2023
DEFINITION  poly(rC)-binding protein 3 isoform X11 [Homo sapiens].
ACCESSION   XP_047296830
VERSION     XP_047296830.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440874.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..345
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..345
                     /product="poly(rC)-binding protein 3 isoform X11"
                     /calculated_mol_wt=36686
     Region          38..114
                     /region_name="KH-I"
                     /note="K homology (KH) RNA-binding domain, type I;
                     cl00098"
                     /db_xref="CDD:444693"
     Region          125..201
                     /region_name="KH-I_PCBP3_rpt2"
                     /note="second type I K homology (KH) RNA-binding domain
                     found in poly(rC)-binding protein 3 (PCBP3) and similar
                     proteins; cd22519"
                     /db_xref="CDD:411947"
     Site            order(137,142..143,145..149,152,156,164..167,172,176)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411947"
     Region          260..334
                     /region_name="KH-I_PCBP3_rpt3"
                     /note="third type I K homology (KH) RNA-binding domain
                     found in poly(rC)-binding protein 3 (PCBP3) and similar
                     proteins; cd22522"
                     /db_xref="CDD:411950"
     Site            order(277..281,283..287,289..291,294,302..303,305,313)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411950"
     CDS             1..345
                     /gene="PCBP3"
                     /gene_synonym="ALPHA-CP3; PCBP3-OT1; PCBP3OT"
                     /coded_by="XM_047440874.1:562..1599"
                     /db_xref="GeneID:54039"
                     /db_xref="HGNC:HGNC:8651"
                     /db_xref="MIM:608502"
ORIGIN      
        1 mgegdafwap svlphstlst lshhpqpqfg rrmeskvseg glnvtltirl lmhgkevgsi
       61 igkkgetvkk mreesgarin isegncperi vtitgptdai fkafamiayk feediinsms
      121 nspatskppv tlrlvvpasq cgsligkggs kikeirestg aqvqvagdml pnsteravti
      181 sgtpdaiiqc vkqicvvmle aytiqgqyai phpdltklhq lamqqtpfpp lgqtnpafpg
      241 eklplhssee aqnlmgqssg ldasppasth eltipndlig ciigrqgtki neirqmsgaq
      301 ikianategs serqititgt panislaqyl inarltsevt gmgtl
//
LOCUS       XP_047296837             325 aa            linear   PRI 20-MAR-2023
DEFINITION  poly(rC)-binding protein 3 isoform X15 [Homo sapiens].
ACCESSION   XP_047296837
VERSION     XP_047296837.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440881.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..325
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..325
                     /product="poly(rC)-binding protein 3 isoform X15"
                     /calculated_mol_wt=34562
     Region          38..114
                     /region_name="KH-I_PCBP3_rpt1"
                     /note="first type I K homology (KH) RNA-binding domain
                     found in poly(rC)-binding protein 3 (PCBP3) and similar
                     proteins; cd22516"
                     /db_xref="CDD:411944"
     Site            order(54,58..59,61..65,68,72,80..83,85,89)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411944"
     Region          125..201
                     /region_name="KH-I_PCBP3_rpt2"
                     /note="second type I K homology (KH) RNA-binding domain
                     found in poly(rC)-binding protein 3 (PCBP3) and similar
                     proteins; cd22519"
                     /db_xref="CDD:411947"
     Site            order(137,142..143,145..149,152,156,164..167,172,176)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411947"
     Region          240..314
                     /region_name="KH-I_PCBP3_rpt3"
                     /note="third type I K homology (KH) RNA-binding domain
                     found in poly(rC)-binding protein 3 (PCBP3) and similar
                     proteins; cd22522"
                     /db_xref="CDD:411950"
     Site            order(257..261,263..267,269..271,274,282..283,285,293)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411950"
     CDS             1..325
                     /gene="PCBP3"
                     /gene_synonym="ALPHA-CP3; PCBP3-OT1; PCBP3OT"
                     /coded_by="XM_047440881.1:423..1400"
                     /db_xref="GeneID:54039"
                     /db_xref="HGNC:HGNC:8651"
                     /db_xref="MIM:608502"
ORIGIN      
        1 mgegdafwap svlphstlst lshhpqpqfg rrmeskvseg glnvtltirl lmhgkevgsi
       61 igkkgetvkk mreesgarin isegncperi vtitgptdai fkafamiayk feediinsms
      121 nspatskppv tlrlvvpasq cgsligkggs kikeirestg aqvqvagdml pnsteravti
      181 sgtpdaiiqc vkqicvvmle aytiqgqyai phpdltklhq lamqqtpfpp lgqtnpafpg
      241 ldasppasth eltipndlig ciigrqgtki neirqmsgaq ikianategs serqititgt
      301 panislaqyl inarltsevt gmgtl
//
LOCUS       XP_011528122             341 aa            linear   PRI 20-MAR-2023
DEFINITION  target of Myb1 membrane trafficking protein isoform X4 [Homo
            sapiens].
ACCESSION   XP_011528122
VERSION     XP_011528122.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011529820.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..341
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..341
                     /product="target of Myb1 membrane trafficking protein
                     isoform X4"
                     /calculated_mol_wt=36702
     Region          62..156
                     /region_name="GAT_TOM1"
                     /note="canonical GAT domain found in target of Myb protein
                     1 (Tom1); cd14236"
                     /db_xref="CDD:260094"
     Site            order(73..74,77..78,80..81,84..85,88,101,104..105)
                     /site_type="other"
                     /note="ubiquitin binding site [polypeptide binding]"
                     /db_xref="CDD:260094"
     CDS             1..341
                     /gene="TOM1"
                     /gene_synonym="IMD85"
                     /coded_by="XM_011529820.3:413..1438"
                     /db_xref="GeneID:10043"
                     /db_xref="HGNC:HGNC:11982"
                     /db_xref="MIM:604700"
ORIGIN      
        1 mtdldmlspi htpqrtvfns etqsgqdsvg tdssqqedsg qhaaplpapp ilsgdtpiap
       61 tpeqigklrs elemvsgnvr vmsemltelv ptqaepadle llqelnrtcr amqqrvleli
      121 pqianeqlte ellivndnln nvflrherfe rfrtgqttka pseaepaadl idmgpdpaat
      181 gnlssqlagm nlgsssvrag lqsleasgrl edefdmfalt rgssladqrk evkyeapqat
      241 dglagaldar qqstgaipvt qaclmedieq wlstdvgnda eepkgvtseg kfdkfleera
      301 kaadrlpnls spsaegppgp psgpaprkkt qekdddmlfa l
//
LOCUS       XP_047304535             753 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein with KRAB and SCAN domains 7 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047304535
VERSION     XP_047304535.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448579.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..753
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..753
                     /product="zinc finger protein with KRAB and SCAN domains 7
                     isoform X1"
                     /calculated_mol_wt=84831
     Region          51..161
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Region          231..270
                     /region_name="KRAB_A-box"
                     /note="KRAB (Kruppel-associated box) domain -A box;
                     cd07765"
                     /db_xref="CDD:143639"
     Region          379..737
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          384..404
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(389,391,393,395..396,399..400,403,417,419,423..424,
                     427..428,431,445,447,449,451..452,455..456,459)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          412..432
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          440..460
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          468..488
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          496..516
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          524..544
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          552..572
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          580..600
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          608..628
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          636..656
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(641,643,645,647..648,651..652,655,669,671,675..676,
                     679..680,683,697,699,701,703..704,707..708,711)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          664..684
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          692..712
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          720..740
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..753
                     /gene="ZKSCAN7"
                     /gene_synonym="ZFP; ZNF167; ZNF448; ZNF64; ZSCAN39"
                     /coded_by="XM_047448579.1:445..2706"
                     /db_xref="GeneID:55888"
                     /db_xref="HGNC:HGNC:12955"
ORIGIN      
        1 mttagrgnlg liprstafqk qegrltvkqe panqtwgqgs slqknyppvc eifrlhfrql
       61 cyhemsgpqe alsrlrelcr wwlmpevhtk eqilellvle qflsilpgel rtwvqlhhpe
      121 sgeeavavve dfqrhlsgse evsapaqkqe mhfeettalg ttkespptsp lsggsapgah
      181 leppydpgth hlpsgdfaqc tspvptlpqv gnsgdqagat vlrmvrpqdt vayedlsvdy
      241 tqkkwksltl sqralqwnmm penhhsmasl genmmkgsel tpkqeffkgs essnrtsggl
      301 fgvvpgaaet gdvcedtfke legqtsdeeg srlendflei tdedkkkstk drydkykevg
      361 ehpplssspv ehegvlkgqk syrcdecgka fnrsshligh qrihtgekpy ecnecgktfr
      421 qtsqlivhlr thtgekpyec secgkayrhs shliqhqrlh ngekpykcne cakaftqssr
      481 ltdhqrthtg ekpyecnecg eafirsksla rhqvlhtgkk pykcnecgra fcsnrnlidh
      541 qrihtgekpy ecsecgkafs rskclirhqs lhtgekpykc secgkafnqn sqlieherih
      601 tgekpfecse cgkafglskc lirhqrlhtg ekpykcnecg ksfnqnshli ihqrihtgek
      661 pyecnecgkv fsyssslmvh qrthtgekpy kcndcgkafs dssqlivhqr vhtgekpyec
      721 secgkafsqr stfnhhqrth tgekssglaw svs
//
LOCUS       XP_011535853            1066 aa            linear   PRI 20-MAR-2023
DEFINITION  serine protease inhibitor Kazal-type 5 isoform X2 [Homo sapiens].
ACCESSION   XP_011535853
VERSION     XP_011535853.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011537551.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1066
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..1066
                     /product="serine protease inhibitor Kazal-type 5 isoform
                     X2"
                     /calculated_mol_wt=120949
     Region          79..123
                     /region_name="KAZAL_PSTI"
                     /note="Kazal-type pancreatic secretory trypsin inhibitors
                     (PSTI) and related proteins, including the second domain
                     of the ovomucoid turkey inhibitor and the C-terminal
                     domain of the esophagus cancer-related gene-2 protein
                     (ECRG-2), are members of the...; cd01327"
                     /db_xref="CDD:238648"
     Site            85..86
                     /site_type="active"
                     /note="protease cleavage site [active]"
                     /db_xref="CDD:238648"
     Site            85
                     /site_type="active"
                     /note="protease interaction site [active]"
                     /db_xref="CDD:238648"
     Region          147..>171
                     /region_name="KAZAL"
                     /note="Kazal type serine protease inhibitors; smart00280"
                     /db_xref="CDD:197624"
     Region          210..244
                     /region_name="KAZAL"
                     /note="Kazal type serine protease inhibitors; smart00280"
                     /db_xref="CDD:197624"
     Region          282..320
                     /region_name="KAZAL_FS"
                     /note="Kazal type serine protease inhibitors and
                     follistatin-like domains. Kazal inhibitors inhibit serine
                     proteases, such as, trypsin, chyomotrypsin, avian
                     ovomucoids, and elastases. The inhibitory domain has one
                     reactive site peptide bond, which serves the...; cl00097"
                     /db_xref="CDD:412159"
     Region          481..>505
                     /region_name="KAZAL_FS"
                     /note="Kazal type serine protease inhibitors and
                     follistatin-like domains. Kazal inhibitors inhibit serine
                     proteases, such as, trypsin, chyomotrypsin, avian
                     ovomucoids, and elastases. The inhibitory domain has one
                     reactive site peptide bond, which serves the...; cl00097"
                     /db_xref="CDD:412159"
     Region          617..>645
                     /region_name="KAZAL"
                     /note="Kazal type serine protease inhibitors; smart00280"
                     /db_xref="CDD:197624"
     Region          693..>721
                     /region_name="KAZAL"
                     /note="Kazal type serine protease inhibitors; smart00280"
                     /db_xref="CDD:197624"
     Region          759..799
                     /region_name="KAZAL"
                     /note="Kazal type serine protease inhibitors; smart00280"
                     /db_xref="CDD:197624"
     Region          834..874
                     /region_name="KAZAL_FS"
                     /note="Kazal type serine protease inhibitors and
                     follistatin-like domains. Kazal inhibitors inhibit serine
                     proteases, such as, trypsin, chyomotrypsin, avian
                     ovomucoids, and elastases. The inhibitory domain has one
                     reactive site peptide bond, which serves the...; cl00097"
                     /db_xref="CDD:412159"
     Region          1004..1048
                     /region_name="KAZAL_PSTI"
                     /note="Kazal-type pancreatic secretory trypsin inhibitors
                     (PSTI) and related proteins, including the second domain
                     of the ovomucoid turkey inhibitor and the C-terminal
                     domain of the esophagus cancer-related gene-2 protein
                     (ECRG-2), are members of the...; cd01327"
                     /db_xref="CDD:238648"
     Site            1010..1011
                     /site_type="active"
                     /note="protease cleavage site [active]"
                     /db_xref="CDD:238648"
     Site            1010
                     /site_type="active"
                     /note="protease interaction site [active]"
                     /db_xref="CDD:238648"
     CDS             1..1066
                     /gene="SPINK5"
                     /gene_synonym="LEKTI; LETKI; NETS; NS; VAKTI"
                     /coded_by="XM_011537551.3:73..3273"
                     /db_xref="GeneID:11005"
                     /db_xref="HGNC:HGNC:15464"
                     /db_xref="MIM:605010"
ORIGIN      
        1 mchefqafmk ngklfcpqdk kffqsldgim finkcatckm ilekeaksqk rarhlarapk
       61 ataptelncd dfkkgerdgd ficpdyyeav cgtdgktydn rcalcaenak tgsqigvkse
      121 geckssnpeq dvcsafrpfv rdgrlgctre ndpvlgpdgk thgnkcamca elflkeaena
      181 kregetrirr naekdfckey ekqvrngrlf ctresdpvrg pdgrmhgnkc alcaeifkqr
      241 fseensktdq nlgkaeektk vkreivklcs qyqnqakngi lfctrendpi rgpdgkmhgn
      301 lcsmcqayfq aeneekkkae ararnkresg katsyaelcs eyrklvrngk lactrendpi
      361 qgpdgkvhgn tcsmcevffq aeeeekkkke gksrnkrqsk stasfeelcs eyrksrkngr
      421 lfctrendpi qgpdgkmhgn tcsmceaffq qeerarakak reaakeicse frdqvrngtl
      481 ictrehnpvr gpdgkmhgnk camcasvfkl eeeekkndke ekgkveaekv kreavqelcs
      541 eyrhyvrngr lpctrendpi egldgkihgn tcsmceaffq qeakekerae prakvkreae
      601 ketcdefrrl lqngklfctr endpvrgpdg kthgnkcamc kavfqkenee rkrkeeedqr
      661 naaghgssgg gggntqdeca eyreqmkngr lsctresdpv rdadgksynn qctmckakle
      721 reaerkneys rsrsngtgse sgkdtcdefr sqmkngklic tresdpvrgp dgkthgnkct
      781 mckeklerea aekkkkeded rsntgersnt gersndkedl crefrsmqrn gklictrenn
      841 pvrgpygkmh inkcamcqsi fdreanerkk kdeekssskp snnakdqcrq vqneaedakf
      901 rqpgrslasv armstdecse frnyirnnel icprendpvh gadgkfytnk cymcravflt
      961 ealeraklqe kpshvrasqe edspdsfssl dsemckdyrv lprigylcpk dlkpvcgddg
     1021 qtynnpcmlc henlirqtnt hirstgkcee sstpgttaas mppsde
//
LOCUS       XP_047275539            2089 aa            linear   PRI 20-MAR-2023
DEFINITION  mediator of DNA damage checkpoint protein 1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047275539
VERSION     XP_047275539.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419583.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2089
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..2089
                     /product="mediator of DNA damage checkpoint protein 1
                     isoform X3"
                     /calculated_mol_wt=226536
     Region          32..131
                     /region_name="FHA_MDC1"
                     /note="forkhead associated (FHA) domain found in mediator
                     of DNA damage checkpoint protein 1 (MDC1) and similar
                     proteins; cd22665"
                     /db_xref="CDD:438717"
     Site            order(58,69..73,95..96,124..125)
                     /site_type="other"
                     /note="phosphopeptide binding site [polypeptide binding]"
                     /db_xref="CDD:438717"
     Region          822..>962
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     Region          <943..1376
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     Region          <1227..1757
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1893..1963
                     /region_name="BRCT_MDC1_rpt1"
                     /note="first BRCT domain of mediator of DNA damage
                     checkpoint protein 1 (MDC1) and similar proteins; cd17744"
                     /db_xref="CDD:349375"
     Site            order(1898..1899,1932..1934,1936)
                     /site_type="other"
                     /note="histone H2AX interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:349375"
     Region          1995..2075
                     /region_name="BRCT_MDC1_rpt2"
                     /note="second BRCT domain of mediator of DNA damage
                     checkpoint protein 1 (MDC1) and similar proteins; cd18441"
                     /db_xref="CDD:349394"
     Site            order(2008..2009,2043..2044,2066)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:349394"
     Site            2008..2009
                     /site_type="other"
                     /note="gamma-H2AX interaction site [polypeptide binding]"
                     /db_xref="CDD:349394"
     CDS             1..2089
                     /gene="MDC1"
                     /gene_synonym="NFBD1"
                     /coded_by="XM_047419583.1:322..6591"
                     /db_xref="GeneID:9656"
                     /db_xref="HGNC:HGNC:21163"
                     /db_xref="MIM:607593"
ORIGIN      
        1 medtqaidwd veeeeeteqs seslrcnvep vgrlhifsga hgpekdfplh lgknvvgrmp
       61 dcsvalpfps iskqhaeiei lawdkapilr dcgslngtqi lrppkvlspg vshrlrdqel
      121 ilfadllcqy hrldvslpfv srgpltveet prvqgetqpq rlllaedsee evdflserrm
      181 vkksrttsss vivpesdeeg hspvlgglgp pfafnlnsdt dveegqqpat eeassaarrg
      241 atveakqsea evvteiqlek dqplvkerdn dtkvkrgagn gvvpagvile rsqppgedsd
      301 tdvdddsrpp grpaevhler aqpfgfidsd tdaeeeripa tpvvipmkkr kifhgvgtrg
      361 pgapglahlq esqagsdtdv eegkapqavp leksqasmvi nsdtddeeev saaltlahlk
      421 esqpaiwnrd aeedmpqrvv llqrsqttte rdsdtdveee elpvenreav lkdhtkiral
      481 vrahsekdqp pfgdsddsve adksspgihl ersqasttvd intqvekevp pgsaiihikk
      541 hqvsvegtnq tdvkavggpa kllvvsleea wplhgdcetd aeegtsltas vvadvrksql
      601 paegdagaew aaavlkqera hevgaqggpp vaqveqdlpi srenltdlvv dtdtlgestq
      661 pqregaqvpt grereqhvgg tkdsednygd sedldlqatq cflenqglea vqsmedeptq
      721 afmltppqel gpshcsfqtt gtldepwevl atqpfclres edsetqpfdt hleaygpcls
      781 ppraipgdqh pespvhtepm giqgrgrqtv dkvmgipket aervgpergp leretekllp
      841 erqtdvtgee eltkgkqdre qkqllardtq rqesdknges asperdresl kveietseei
      901 qekqvqkqtl pskafereve rpvanrecdp aeleekvpkv ilerdtqrge peggsqdqkg
      961 qassptpepg vgagdlpgpt sapvpsgsqs ggrgspvspr rhqkgllnck mppaekasri
     1021 raaekvsrgd qespdaclpp tvpeapappq kplnsqsqkh lapppllspl lpsikptvrk
     1081 trqdgsqeap eaplsselep fhpkpkirtr kssrmtpfpa tsaapephps tstaqpvtpk
     1141 ptsqatrsrt nrssvktpep vvptapelqp ststdqpvts eptsqvtrgr ksrssvktpe
     1201 tvvptalelq pststdrpvt septsqatrg rknrssvktp epvvptapel qpststdqpv
     1261 tseptyqatr grknrssvkt pepvvptape lrpststdrp vtpkptsrtt rsrtnmssvk
     1321 tpetvvptap elqiststdq pvtpkptsrt trsrtnmssv knpestvpia pelppstste
     1381 qpvtpeptsr atrgrknrss gktpetlvpt apklepstst dqpvtpepts qatrgrtnrs
     1441 svktpetvvp tapelqpsts tdqpvtpept sqatrgrtdr ssvktpetvv ptapelqasa
     1501 stdqpvtsep tsrttrgrkn rssvktpetv vpaapelqps tstdqpvtpe ptsratrgrt
     1561 nrssvktpes ivpiapelqp stsrnqlvtp eptsratrcr tnrssvktpe pvvptapeph
     1621 pttstdqpvt pkltsratrr ktnrssvktp kpvepaasdl epftptdqsv tpeaiaqggq
     1681 sktlrsstvr ampvpttpef qspvttdqpi spepitqpsc ikrqraagnp gslaapidhk
     1741 pcsaplepks qasrnqrwga vraaesltai pepaspqlle tpihasqiqk vepagrsrft
     1801 pelqpkasqs rkrslatmds pphqkqpqrg evsqktviik eeeedtaekp gkeedvvtpk
     1861 pgkrkrdqae eepnripsrs lrrtklnqes tapkvlftgv vdargeravl alggslagsa
     1921 aeashlvtdr irrtvkflca lgrgipilsl dwlhqsrkag fflppdeyvv tdpeqeknfg
     1981 fslqdalsra rerrllegye iyvtpgvqpp ppqmgeiisc cggtylpsmp rsykpqrvvi
     2041 tcpqdfphcs iplrvglpll speflltgvl kqeakpeafv lsplemsst
//
LOCUS       XP_047275758             504 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 273 isoform X2 [Homo sapiens].
ACCESSION   XP_047275758
VERSION     XP_047275758.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419802.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..504
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..504
                     /product="zinc finger protein 273 isoform X2"
                     /calculated_mol_wt=57914
     Region          <1..32
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          126..472
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          143..163
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          171..191
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          199..219
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          227..247
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          255..275
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          283..303
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(288,290,292,294..295,298..299,302,316,318,322..323,
                     326..327,330,344,346,348,350..351,354..355,358)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          311..331
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          339..358
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          367..387
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          395..415
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(400,402,404,406..407,410..411,414,428,430,434..435,
                     438..439,442,456,458,460,462..463,466..467,470)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          423..443
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          451..471
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          479..499
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..504
                     /gene="ZNF273"
                     /gene_synonym="HZF9"
                     /coded_by="XM_047419802.1:6394..7908"
                     /db_xref="GeneID:10793"
                     /db_xref="HGNC:HGNC:13067"
                     /db_xref="MIM:604756"
ORIGIN      
        1 mldnyrnlvf lgiavskpdl itcleqgkep cnmkrhamva kppvvcshfa qdlwpkqglk
       61 dsfqkvilrr ygkyghenlq lrkgcksade hkvhkrgyng lnqcltttqs kifqcdkyvk
      121 vlhkfsnsni hkkrqtgkkp fkckecgksc cilsqltqhk ktatrvnfyk cktcgkafnq
      181 fsnltkhkii hpevnpykce ecgkafnqsl tltkhkkiht eekpykcedc gkvfsvfsvl
      241 tkhkiihtgt kpynceecgk gfsifstltk hkiihtgekp ykcnecgkaf nwsstltkhk
      301 rihtgekpyk ceecgkafnq sstltrhkiv htgekpykce ecgkafkrst tltkhkriyt
      361 kekpykceec gkafsvfstl tkhkiihtga kpykceecgs afrafstlte hkrvhtgekp
      421 ykcnecgkaf nwsstltkhk rihtgekpyk ceecgkafnr ssnltrhkki htgekpykpk
      481 rcdsafdntp nfsrhkrnhm geks
//
LOCUS       XP_024302426            1062 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat and guanylate kinase domain-containing protein
            isoform X1 [Homo sapiens].
ACCESSION   XP_024302426
VERSION     XP_024302426.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024446658.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1062
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1062
                     /product="leucine-rich repeat and guanylate kinase
                     domain-containing protein isoform X1"
                     /calculated_mol_wt=117158
     Region          132..300
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          132..150
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          151..172
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          173..194
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          235..259
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          260..286
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          347..523
                     /region_name="GMPK"
                     /note="Guanosine monophosphate kinase (GMPK, EC 2.7.4.8),
                     also known as guanylate kinase (GKase), catalyzes the
                     reversible phosphoryl transfer from adenosine triphosphate
                     (ATP) to guanosine monophosphate (GMP) to yield adenosine
                     diphosphate (ADP) and guanosine...; cd00071"
                     /db_xref="CDD:238026"
     Site            order(352,358,375,382,385,394,417,422)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:238026"
     Site            order(352,358)
                     /site_type="other"
                     /note="G-X2-G-X-G-K"
                     /db_xref="CDD:238026"
     Region          <715..1057
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..1062
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /coded_by="XM_024446658.2:29..3217"
                     /db_xref="GeneID:136332"
                     /db_xref="HGNC:HGNC:21964"
                     /db_xref="MIM:616478"
ORIGIN      
        1 matserallr traasllrgl grsrtgarsl qfraekerqp cwsfpmgqkt kgssniassy
       61 llqqlmhryq eldsdgdedq gegeagsees sesemlnlee efdgvlreea vakalhhlgr
      121 sgsgteqvyl nltlsgcnli dvsilcgyvh lqkldlsank iedlscvscm pyllelnasq
      181 nnlttffnfk ppknlksnnq iemitgledl kalqnldlsh nqisslqgle nhdllevinl
      241 ednkiaelre ieyiknlpil rvlnllenpi qekseywffv ifmllrltel dqkkikveek
      301 vsavnkydpp pevvaaqdhl thvvnsvmqp qrifdstlps ldapypmlil agpeacgkre
      361 lahrlcrqfs tyfrygacht trppyfgegd rvdyhfisqd vfdemvnmgk filtfsygnh
      421 kyglnrdtve giardglasc ihmeiegvrs lkysyfepry ilvvpmnkek yegylrrkgl
      481 fsraeiefav srvdlyikin qnfpgyfdev inaddldvay qklsqlirey lglteepaks
      541 lattaagapa skktvsgvpa hlvpsprcla klqadgqmte hlsgmqihak dlenqsvtpa
      601 qnqelaqdge thqkelspds hlnpelpqhl sssalglpqq aqdlslnpte edvqqsdlpl
      661 kqiatetdvp eveasevgqs pitptlvppv hpsppssrsp qpgqdkesge aqvtptgppl
      721 seplqgpgpt plspqriqde eiesdklpps sshhdppkds shtdlvqkla gdsqqalkee
      781 tskpeairvs iphpelphpq dlatdtkqpq argapgtllp rsrlaptrlp qpqvlaplqs
      841 rrptpkllsp sreealgtts hqtmtvsprl pptreadtsk lppispphsk pppnlspqaa
      901 hslqqvqeek vsevklplis ppsqeqaepr ilspaqeeaa qkvrlpripa plpepglpqn
      961 sgtqpdprpa kerkapqags ssrrkipdmr asphnqgplq qtgarekklp nqkgtargla
     1021 pleeappgnh qpalqlephd qpaptmvpdd pnpspplvsc ls
//
LOCUS       XP_011513643             439 aa            linear   PRI 20-MAR-2023
DEFINITION  acyloxyacyl hydrolase isoform X12 [Homo sapiens].
ACCESSION   XP_011513643
VERSION     XP_011513643.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011515341.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..439
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..439
                     /product="acyloxyacyl hydrolase isoform X12"
                     /calculated_mol_wt=49171
     Region          40..114
                     /region_name="SapB"
                     /note="Saposin (B) Domains; smart00741"
                     /db_xref="CDD:214797"
     Region          205..233
                     /region_name="Cu-binding_MopE"
                     /note="Putative metal-binding motif; pfam11617"
                     /db_xref="CDD:431962"
     Region          244..>435
                     /region_name="SGNH_hydrolase"
                     /note="or GDSL_hydrolase, is a diverse family of lipases
                     and esterases. The tertiary fold of the enzyme is
                     substantially different from that of the alpha/beta
                     hydrolase family and unique among all known hydrolases;
                     its active site closely resembles the typical...; cl01053"
                     /db_xref="CDD:445243"
     Site            order(263,341,373)
                     /site_type="active"
                     /note="oxyanion hole [active]"
                     /db_xref="CDD:238141"
     CDS             1..439
                     /gene="AOAH"
                     /coded_by="XM_011515341.3:347..1666"
                     /db_xref="GeneID:313"
                     /db_xref="HGNC:HGNC:548"
                     /db_xref="MIM:102593"
ORIGIN      
        1 mqspwkiltv aplflllslq ssaspanddq srpslsnght cvgcvlvvsv ieqlaqvhns
       61 tvqasmerlc sylpeklflk ttcylvidkf gsdiikllsa dmnadvvcht lefckqntgq
      121 plchlyplpk etwkftlqka rqivkkspil kysrsgsdic slpvlakicq kiklameqsv
      181 pfkdvdsdky svfptlrgyh wrgrdcndsd esvypgrrpn nwdvhqdsnc ngiwgvdpkd
      241 gvpyekkfce gsqprgiill gdsagahfhi spewitasqm slnsfinlpt altneldwpq
      301 lsgatgflds tvgikeksiy lrlwkrnhcn hrdyqnisrn gassrnlkkf ieslsrnkvl
      361 dypaiviyam igndvcsgks dpvpamttpe klysnvmqtl khlnshlpng shvilyglpd
      421 gtflwdnlhn ryhplegem
//
LOCUS       XP_047279109             501 aa            linear   PRI 20-MAR-2023
DEFINITION  FERM domain-containing protein 3 isoform X2 [Homo sapiens].
ACCESSION   XP_047279109
VERSION     XP_047279109.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423153.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..501
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..501
                     /product="FERM domain-containing protein 3 isoform X2"
                     /calculated_mol_wt=57116
     Region          <2..129
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          110..213
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          227..270
                     /region_name="FA"
                     /note="FERM adjacent (FA); pfam08736"
                     /db_xref="CDD:430180"
     CDS             1..501
                     /gene="FRMD3"
                     /gene_synonym="4.1O; EPB41L4O; EPB41LO; P410"
                     /coded_by="XM_047423153.1:163..1668"
                     /db_xref="GeneID:257019"
                     /db_xref="HGNC:HGNC:24125"
                     /db_xref="MIM:607619"
ORIGIN      
        1 mkthppytmc frvkfyphep lkikeeltry llylqikrdi fhgrllcsfs daaylgaciv
       61 qaelgdydpd ehpenyisef eifpkqsqkl erkiveihkn elrgqsppva efnlllkaht
      121 letygvdphp ckdstgtttf lgftaagfvv fqgnkrihli kwpdvcklkf egktfyvigt
      181 qkekkamlaf htstpaackh lwkcgvenqa fykyakssqi ktvssskiff kgsrfrysgk
      241 vakevveass kiqreppevh ranitqsrss hslnkqliin meplqpllps pseqeeelpl
      301 gegvplpkee nisaplisss pvkaareyed ppseeedkik eepltiselv ynpsasllpt
      361 pvdddeidml fdcpsrlele redtdsfedl eadenaflia eeeelkearr alswsydilt
      421 ghirvnplvk sfsrllvvgl glllfvfpll llllesgidl sflceirqtp efeqfhyeyy
      481 cplkewvagk vhlilymlgc s
//
LOCUS       XP_047279645             779 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor RFX3 isoform X3 [Homo sapiens].
ACCESSION   XP_047279645
VERSION     XP_047279645.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423689.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..779
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..779
                     /product="transcription factor RFX3 isoform X3"
                     /calculated_mol_wt=87048
     Region          <81..168
                     /region_name="RFX1_trans_act"
                     /note="RFX1 transcription activation region; pfam04589"
                     /db_xref="CDD:428025"
     Region          214..288
                     /region_name="RFX_DNA_binding"
                     /note="RFX DNA-binding domain; pfam02257"
                     /db_xref="CDD:426682"
     CDS             1..779
                     /gene="RFX3"
                     /coded_by="XM_047423689.1:3268..5607"
                     /db_xref="GeneID:5991"
                     /db_xref="HGNC:HGNC:9984"
                     /db_xref="MIM:601337"
ORIGIN      
        1 mqqlvcvnfc fhykqyfkdr pstaiqketi mqtsetgsdt gstvtlqtsv asqaavptqv
       61 vqqvpvqqqv qqvqtvqqvq hvypaqvqyv egsdtvytng airtttypyt etqmysqntg
      121 gnyfdtqgss aqvttvvssh smvgtggiqm gvtggqliss sggtyligns mensghsvth
      181 ttraspatie maietlqksd glsthrssll nshlqwlldn yetaegvslp rstlynhylr
      241 hcqehkldpv naasfgklir sifmglrtrr lgtrgnskyh yygirvkpds plnrlqedmq
      301 ymamrqqpmq qkqrykpmqk vdgvadgftg sgqqtgtsve qtviaqsqhh qqfldasral
      361 pefgeveiss lpdgttfedi kslqslyreh ceaildvvvn lqfslieklw qtfwryspst
      421 ptdgttites snlseiesrl pkaklitlck hesilkwmcn cdhgmyqalv eilipdvlrp
      481 ipsaltqair nfakslegwl snamnnipqr miqtkvaavs afaqtlrryt slnhlaqaar
      541 avlqntsqin qmlsdlnrvd fanvqeqasw vcqcddnmvq rletdfkmtl qqqstleqwa
      601 awldnvmmqa lkpyegrpsf pkaarqfllk wsfyssmvir dltlrsaasf gsfhlirlly
      661 deymfylveh rvaqatgetp iavmgefgdl navspgnldk degsevesem deelddssep
      721 qakrektels qafpvgcmqp vletgvqpsl lnpihsehiv tstqtirqcs atgntytav
//
LOCUS       XP_047298317             534 aa            linear   PRI 20-MAR-2023
DEFINITION  protein-serine O-palmitoleoyltransferase porcupine isoform X5 [Homo
            sapiens].
ACCESSION   XP_047298317
VERSION     XP_047298317.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442361.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..534
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..534
                     /product="protein-serine O-palmitoleoyltransferase
                     porcupine isoform X5"
                     /calculated_mol_wt=59976
     Region          109..>416
                     /region_name="MBOAT"
                     /note="membrane-bound O-acyltransferase family; cl00738"
                     /db_xref="CDD:445070"
     CDS             1..534
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /coded_by="XM_047442361.1:182..1786"
                     /db_xref="GeneID:64840"
                     /db_xref="HGNC:HGNC:17652"
                     /db_xref="MIM:300651"
ORIGIN      
        1 myaipspsdw tvhstgetev lhslqvtgca cacrtptctq lvaqsdvpdf srlppvlqyr
       61 astwagqpqt eisihlaihp wgsamatfsr qeffqqllqg cllptaqqgl dqiwlllaic
      121 lacrllwrlg lpsylkhast vaggffslyh ffqlhmvwvv llsllcylvl flcrhsshrg
      181 vflsvtiliy llmgemhmvd tvtwhkmrga qmivamkavs lgfdldrgev gtvpspvefm
      241 gylyfvgtiv fgpwisfhsy lqavqgrpls crwlqkvars lalallclvl stcvgpylfp
      301 yfiplngdrl lrkwlrayes avsfhfsnyf vgflseatat lagagfteek dhlewdltvs
      361 kplnvelprs mvevvtswnl pmsywlnnyv fknalrlgtf savlvtyaas allhgfsfhl
      421 aavllslafi tyvehvlrkr larilsacvl skrcppdcsh qhrlglgvra lnllfgalai
      481 fhlaylgslf dvdvddttee qgygmaytvh kwselswash wvtfgcwify rlig
//
LOCUS       XP_054187147             356 aa            linear   PRI 20-MAR-2023
DEFINITION  G patch domain and ankyrin repeat-containing protein 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_054187147
VERSION     XP_054187147.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331172.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..356
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..356
                     /product="G patch domain and ankyrin repeat-containing
                     protein 1 isoform X1"
                     /calculated_mol_wt=39140
     CDS             1..356
                     /gene="GPANK1"
                     /gene_synonym="ANKRD59; BAT4; D6S54E; G5; GPATCH10"
                     /coded_by="XM_054331172.1:356..1426"
                     /db_xref="GeneID:7918"
                     /db_xref="HGNC:HGNC:13920"
                     /db_xref="MIM:142610"
ORIGIN      
        1 msrpllitft patdpsdlwk dgqqqpqpek pestldgaaa lafyealigd essapdsqrs
       61 qteparerkr kkrrimkapa aeavaegasg rhgqgrslea edkmthrilr aaqegdlpel
      121 rrllepheag gaggninard afwwtplmca aragqgaavs yllgrgaawv gvcelsgrda
      181 aqlaeeagfp evarmvresh getrspenrs ptpslqycen cdthfqdsnh rtstahllsl
      241 sqgpqppnlp lgvpisspgf klllrggwep gmglgprgeg ranpiptvlk rdqeglgyrs
      301 apqprvthfp awdtravagr erpprvatls wreerrreek drawerdlrt ymnlef
//
LOCUS       XP_047299268            2584 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor TFIIIB component B'' homolog isoform X3 [Homo
            sapiens].
ACCESSION   XP_047299268
VERSION     XP_047299268.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443312.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791777) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2584
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="unlocalized"
     Protein         1..2584
                     /product="transcription factor TFIIIB component B''
                     homolog isoform X3"
                     /calculated_mol_wt=289303
     Region          293..377
                     /region_name="Myb_DNA-bind_7"
                     /note="Myb DNA-binding like; pfam15963"
                     /db_xref="CDD:435039"
     Region          <824..>1336
                     /region_name="PRK02224"
                     /note="DNA double-strand break repair Rad50 ATPase"
                     /db_xref="CDD:179385"
     CDS             1..2584
                     /gene="BDP1"
                     /coded_by="XM_047443312.1:271..8025"
                     /db_xref="GeneID:55814"
                     /db_xref="HGNC:HGNC:13652"
                     /db_xref="MIM:607012"
ORIGIN      
        1 mfrrarlsvk pnvrpgvgar gstasnpqrg resprppepa tdsaskpaep tdvptvdfgg
       61 aepqekaprs stektggdnd veessrssst vsqrrkriss tsslvkssvs vpseshplst
      121 inqeapqpta tstkekqpcs dryriykaqk lremlkeelr kekkqwknky ainesqrppd
      181 rskmtmrdfi yylpdnnpmt ssleqekkte kpstpvqtre qegkstpnae dnemeeetdd
      241 gpllvprvkv aedgsiilde esltvevlrt kgpcvveend pifergsttt yssfrknyys
      301 kpwsnketdm fflaismvgt dfsmigqlfp hrarieiknk fkreektngw ridkafqekr
      361 pfdfdffahl lqkvlaeeek rkqksvknhs lkekkstkpr knvkvkkvac egvnndpdes
      421 mssrisdter sqkdaqtvee esltlsreda eqvalevdln qkkrrrkkqd ganelgvnnl
      481 lenatvqagp skgekhknkc qairpelkeg ecskeqmlsc tqnidgivgf astekvekrt
      541 dpilslsnqq datsvatess esstsdlpsf evgiralcev nnaegsciee rnvdlknnsl
      601 eidqtenvkp mlrgrfqrpk pnlsragkks vlsqgktese sknshsktsv eknhvekdkm
      661 ntldilrmet terenpeaet vsvlgekncl qegsqlkalr pvqvrgrlqk pkpnagkaae
      721 rkeilisqee iganveknen escadrdtpq hmedqsrkdf eeedvilqpe kndsfqnvqp
      781 depkvlnecl svqennkank lnqvpilrtr fqkpkpnigr gtgrreissk eevlekilvs
      841 gemaaalret vrldtspkem vpaeintkem qsdlketgrr aisprekild viddtiemet
      901 glkamgreic lrektpevid ateeidkdle eagrreispq kngpeevkpl gevetdlkat
      961 gnessprekt pevtdateei dknleetgrr kisprengpe evkpvdemet dlnatgress
     1021 prektpevid ateeidleet erevspqeng leevkplgem etdlkatgrd sfprgktpev
     1081 idaieeieid leetereisp qengleevkp lgemqtdlka tgreisprek tpevidatee
     1141 idkdleetgr reispeengp eevkpvdeme tdlkttgreg ssrektrevi daaevietdl
     1201 eetereispq engpeevkpv gkmetdlkei reeisqrekv laefsairek eidlketgkr
     1261 dipimekvsg kmavveemea dlketgkenf rergseeicv teekvaelkq tgktdispre
     1321 neleetstsr qtdthlmqsg sndfsavpsl diqnissevl smmhtpveek rnsekevssh
     1381 fshfkissqt hesdktevqg iqspdvpeqf sdinlskslp qeqkpleikp apfvrsrfkr
     1441 pkpnlaraal kretteseky iyekksetkk metivmqenn eqtdtlpsqh deaslmisre
     1501 kdtlghrnee avilpctqte rnlspsnsce pkeesqsapv qkndsvvsvg tnnvntfqqe
     1561 mkesviqtar qvrgrlqrpr pnirktgqrq ivdkgeakgi ikegrtilpk detekkvltv
     1621 snsqieteie vpssavpehr myenqsqvvl venlhvnktn etirhenkpy vpssaqmtrr
     1681 kfqkakpnlg rahskkeepv lekvttdqsk egkpedhllq kgasntqlll kekaelltsl
     1741 evsarkdcvg skesalakid aeleevgpsr rvgeetvgdn spssvveeqy lnkltscpqp
     1801 lnetsyskia ldgkttisst seyernrger rshkkfkpnv trgrgskrvr gktskkepra
     1861 skamlvtlra sqeedddadd fesdyeeesy hlapeevnka pvfvpvglrs pepvsaqiee
     1921 tmeeleitvn vpdvgciavv ehelpntdvt teemkqeenl svpfemttse hiqdepgtnd
     1981 gsteaaitll tmgdlvlqse isseqgdvgv ciiphvhskd kshipssldn vnhkivhecq
     2041 elsspvitts pasfeenkiv leeqssreei slmekvkena tptrntiskv tsnlrirsrl
     2101 akpkpnlekt lgtnrlddyq evsslcvtkg aemetqrete knaskatele nknlgpvtta
     2161 enkdqsklac vhgikgtsis sevnlterne nqeessqevh mlsvapvass etgpctlgld
     2221 rglgensvee pqikdskgds vltlpvpeyt ptsipevqqe niinpqdltv nlvanvpqdg
     2281 edeqafiltl veipanavee ftdataqfmp npllpapilv ksvnteergd msiclpatsv
     2341 gqdamglsis grdnskkppd nldlvsrkrf qcrldkndhi ppakkrsltl rddcqeytte
     2401 vhskeltnvf eetgeshkgq difltsgstl ttpepqrqqv eaafqsrgsr spdacmdknv
     2461 pqlpqdemiv sdkeertdaa pksqqmdsrt ssskaslsrp grrplgflsl icsknslesd
     2521 epmqvhskkr lkplipglrk klkrsnpfne sqeknressd llpspsvitt qsenisssat
     2581 qrpf
//
LOCUS       XP_054187797            1789 aa            linear   PRI 20-MAR-2023
DEFINITION  tight junction protein ZO-1 isoform X6 [Homo sapiens].
ACCESSION   XP_054187797
VERSION     XP_054187797.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331822.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_011332701.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1789
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.1-13.3"
     Protein         1..1789
                     /product="tight junction protein ZO-1 isoform X6"
                     /calculated_mol_wt=200161
     CDS             1..1789
                     /gene="TJP1"
                     /gene_synonym="ZO-1"
                     /coded_by="XM_054331822.1:577..5946"
                     /db_xref="GeneID:7082"
                     /db_xref="HGNC:HGNC:11827"
                     /db_xref="MIM:601009"
ORIGIN      
        1 merntfsmdc hskstameet aiweqhtvtl hrapgfgfgi aisggrdnph fqsgetsivi
       61 sdvlkggpae gqlqendrva mvngvsmdnv ehafavqqlr ksgknakiti rrkkkvqipv
      121 srpdpepvsd needsydeei hdprsgrsgv vnrrsekiwp rdrsasrers lsprsdrrsv
      181 assqpakptk vtlvksrkne eyglrlashi fvkeisqdsl aardgniqeg dvvlkingtv
      241 tenmsltdak tlierskgkl kmvvqrdera tllnvpdlsd sihsanaser ddiseiqsla
      301 sdhsgrshdr pprrsrsrsp dqrsepsdhs rhspqqpsng slrsrdeeri skpgavstpv
      361 khaddhtpkt veevtverne kqtpslpepk pvyaqvgqpd vdlpvspsdg vlpnsthedg
      421 ilrpsmklvk frkgdsvglr laggndvgif vagvledspa akegleegdq ilrvnnvdft
      481 niireeavlf lldlpkgeev tilaqkkkdv yrrivesdvg dsfyirthfe yekespygls
      541 fnkgevfrvv dtlyngklgs wlairigknh kevergiipn knraeqlasv qytlpktagg
      601 dradfwrfrg lrsskrnlrk sredlsaqpv qtkfpayerv vlreagflrp vtifgpiadv
      661 areklareep diyqiaksep rdagtdqrss giirlhtikq iidqdkhall dvtpnavdrl
      721 nyaqwypivv flnpdskqgv ktmrmrlcpe srksarklye rshklrknnh hlftttinln
      781 smndgwygal keaiqqqqnq lvwvsegkad gatsddldlh ddrlsylsap gseysmystd
      841 srhtsdyedt dteggaytdq eldetlndev gtppesaitr ssepvredss gmhhenqtyp
      901 pyspqaqpqp ihridspgfk pasqqkaeas spvpylspet npasstsavn hnvnltnvrl
      961 eeptpapsts yspqadslrt psteaahiml rdqepslssh vdptkvyrkd pypeemmrqn
     1021 hvlkqpavsh pghrpdkepn ltyepqlpyv ekqasrdleq ptyryesssy tdqfsrnyeh
     1081 rlryedrvpm yeeqwsyydd kqpypsrppf dnqhsqdlds rqhpeesser gyfprfeepa
     1141 plsydsrpry eqaprasalr heeqpapgyd thgrlrpeaq phpsagpkpa eskqyfeqys
     1201 rsyeqvppqg ftsraghfep lhgaaavppl ipssqhkpea lpsntkplpp pptqteeeed
     1261 pamkpqsvlt rvkmfenkrs asletkkdvn dtgsfkppev askpsgapii gpkptsqnqf
     1321 sehdktlyri pepqkpqlkp pedivrsnhy dpeedeeyyr kqlsyfdrrs fenkppahia
     1381 ashlsepakp ahsqnqsnfs sysskflgsy tsydylkrnv kwgkppeadg vdrsfgekry
     1441 epiqatpppp plpsqyaqps qpvtsaslhi hskgahgegn svsldfqnsl vskpdpppsq
     1501 nkpatfrppn redtaqaafy pqksfpdkap vngteqtqkt vtpaynrftp kpytssarpf
     1561 erkfespkfn hnllpsetah kpdlssktpt spktlvkshs laqppefdsg vetfsihaek
     1621 pkyqinnist vpkaipvsps aveedededg htvvatargi fnsnggvlss ietgvsiiip
     1681 qgaipegveq eiyfkvcrdn silppldkek getllsplvm cgphglkflk pvelrlphca
     1741 smtpdgwsfa lkssdsssgd pktwqnkclp gdpnylvgan cvsvlidhf
//
LOCUS       XP_054187801            1781 aa            linear   PRI 20-MAR-2023
DEFINITION  tight junction protein ZO-1 isoform X9 [Homo sapiens].
ACCESSION   XP_054187801
VERSION     XP_054187801.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331826.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_011332701.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1781
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.1-13.3"
     Protein         1..1781
                     /product="tight junction protein ZO-1 isoform X9"
                     /calculated_mol_wt=199671
     CDS             1..1781
                     /gene="TJP1"
                     /gene_synonym="ZO-1"
                     /coded_by="XM_054331826.1:211..5556"
                     /db_xref="GeneID:7082"
                     /db_xref="HGNC:HGNC:11827"
                     /db_xref="MIM:601009"
ORIGIN      
        1 mrrleglclr rrrrrrgpar ersgdkmkyq kyltvlqmai gvtpsnrgsl lplkrklwvt
       61 pssenpngat ssvsqgkpsl rrikgrlhrs ksldsmdfce ltstameeta iweqhtvtlh
      121 rapgfgfgia isggrdnphf qsgetsivis dvlkggpaeg qlqendrvam vngvsmdnve
      181 hafavqqlrk sgknakitir rkkkvqipvs rpdpepvsdn eedsydeeih dprsgrsgvv
      241 nrrsekiwpr drsasrersl sprsdrrsva ssqpakptkv tlvksrknee yglrlashif
      301 vkeisqdsla ardgniqegd vvlkingtvt enmsltdakt lierskgklk mvvqrderat
      361 llnvpdlsds ihsanaserd diseiqslas dhsgrshdrp prrsrsrspd qrsepsdhsr
      421 hspqqpsngs lrsrdeeris kpgavstpvk haddhtpktv eevtvernek qtpslpepkp
      481 vyaqvgqpdv dlpvspsdgv lpnsthedgi lrpsmklvkf rkgdsvglrl aggndvgifv
      541 agvledspaa kegleegdqi lrvnnvdftn iireeavlfl ldlpkgeevt ilaqkkkdvy
      601 rrivesdvgd sfyirthfey ekespyglsf nkgevfrvvd tlyngklgsw lairigknhk
      661 evergiipnk nraeqlasvq ytlpktaggd radfwrfrgl rsskrnlrks redlsaqpvq
      721 tkfpayervv lreagflrpv tifgpiadva reklareepd iyqiaksepr dagtdqrssg
      781 iirlhtikqi idqdkhalld vtpnavdrln yaqwypivvf lnpdskqgvk tmrmrlcpes
      841 rksarklyer shklrknnhh lftttinlns mndgwygalk eaiqqqqnql vwvsegkadg
      901 atsddldlhd drlsylsapg seysmystds rhtsdyedtd teggaytdqe ldetlndevg
      961 tppesaitrs sepvredssg mhhenqtypp yspqaqpqpi hridspgfkp asqqvyrkdp
     1021 ypeemmrqnh vlkqpavshp ghrpdkepnl tyepqlpyve kqasrdleqp tyryesssyt
     1081 dqfsrnyehr lryedrvpmy eeqwsyyddk qpypsrppfd nqhsqdldsr qhpeesserg
     1141 yfprfeepap lsydsrprye qaprasalrh eeqpapgydt hgrlrpeaqp hpsagpkpae
     1201 skqyfeqysr syeqvppqgf tsraghfepl hgaaavppli pssqhkpeal psntkplppp
     1261 ptqteeeedp amkpqsvltr vkmfenkrsa sletkkdvnd tgsfkppeva skpsgapiig
     1321 pkptsqnqfs ehdktlyrip epqkpqlkpp edivrsnhyd peedeeyyrk qlsyfdrrsf
     1381 enkppahiaa shlsepakpa hsqnqsnfss ysskgkppea dgvdrsfgek ryepiqatpp
     1441 ppplpsqyaq psqpvtsasl hihskgahge gnsvsldfqn slvskpdppp sqnkpatfrp
     1501 pnredtaqaa fypqksfpdk apvngteqtq ktvtpaynrf tpkpytssar pferkfespk
     1561 fnhnllpset ahkpdlsskt ptspktlvks hslaqppefd sgvetfsiha ekpkyqinni
     1621 stvpkaipvs psaveedede dghtvvatar gifnsnggvl ssietgvsii ipqgaipegv
     1681 eqeiyfkvcr dnsilppldk ekgetllspl vmcgphglkf lkpvelrlph casmtpdgws
     1741 falkssdsss gdpktwqnkc lpgdpnylvg ancvsvlidh f
//
LOCUS       XP_047299055             364 aa            linear   PRI 20-MAR-2023
DEFINITION  killer cell immunoglobulin-like receptor 2DL4 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047299055
VERSION     XP_047299055.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443099.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_016107303.1) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..364
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..364
                     /product="killer cell immunoglobulin-like receptor 2DL4
                     isoform X3"
                     /calculated_mol_wt=39329
     Region          69..158
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          86..90
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          98..102
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          119..123
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          133..138
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          151..154
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          164..256
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          181..185
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          193..197
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          219..223
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          231..236
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          249..252
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..364
                     /gene="LOC124900568"
                     /coded_by="XM_047443099.1:135..1229"
                     /db_xref="GeneID:124900568"
ORIGIN      
        1 mspshvvvnv starsgpltt ssapvsraes lrpgsrsctm smsptviila clgffldqsv
       61 wahvggqdkp fcsawpsavv pqgghvtlrc hcrrgfnift lykkdgvpvp elynrifwns
      121 flispvtpah agtyrcrgfh phsptewsap snplvimvtg lyekpsltar pgptvragen
      181 vtlscssqss fdiyhlsreg eahelrlpav psingtfqad fplgpathge tyrcfgsfhg
      241 spyewsdpsd plpvsvtdaa vmnqepaghr tvnredsdeq dpqevtyaql dhciftqrki
      301 tgpsqrskrp stdtsvciel pnaepralsp ahehhsqalm gssrettals qtqlassnvp
      361 aagi
//
LOCUS       XP_054189747             864 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/arginine repetitive matrix protein 1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054189747
VERSION     XP_054189747.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054333772.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..864
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..864
                     /product="serine/arginine repetitive matrix protein 1
                     isoform X4"
                     /calculated_mol_wt=97543
     CDS             1..864
                     /gene="SRRM1"
                     /gene_synonym="160-KD; POP101; SRM160"
                     /coded_by="XM_054333772.1:271..2865"
                     /db_xref="GeneID:10250"
                     /db_xref="HGNC:HGNC:16638"
                     /db_xref="MIM:605975"
ORIGIN      
        1 mskvnlevik pwitkrvtei lgfeddvvie fifnqlevkn pdskmmqinl tgflngknar
       61 efmgelwpll lsaqeniagi psaflelkke eikqrqieqe klasmkkqde dkdkrdkeek
      121 essrekrers rsprrrksrs psprrrsspv rrerkrshsr sprhrtksrs pspapekkek
      181 tpelpepsvk vkepsvqeat stsdilkvpk pepipepkep speknskkek ekektrprsr
      241 srsksrsrtr srspshtrpr rrhrsrsrsy sprrrpsprr rpsprrrtpp rrmpppprhr
      301 rsrspvrrrr rssaslsgss ssssssrsrs ppkkppkrts spprktrrls psaspprrrh
      361 rpsppatppp ktrhsptpqq snrtrksrvs vspgrtsgkv tkhkgtekre spspapkprk
      421 velsesedkg gkmaaadsvq qrrqyrrqnq qsssdsgsss ssederpkrs hvkngevgrr
      481 rrhspsrsas psprkrqket sprgrrrrsp sppptrrrrs pspappprrr rtptppprrr
      541 tpsppprrrs psprrysppi qrryspsppp krrtaspppp pkrraspspp pkrrvshspp
      601 pkqrsspvtk rrspslsskh rkgsspsrst rearspqpnk rhspsprpra pqtssspppv
      661 rrgassspqr rqspspstrp irrvsrtpep kkikkaasps pqsvrrvsss rsvsgspepa
      721 akkppappsp vqsqspstnw spavpvkkak sptpspsppr nsdqegggkk kkkkkdkkhk
      781 kdkkhkkhkk hkkekavaaa aaaavtpaai aaatttlaqe epvaapepkk eteseaednl
      841 ddlekhlrek alrsmrkaqv spqs
//
LOCUS       XP_054189783             210 aa            linear   PRI 20-MAR-2023
DEFINITION  aldo-keto reductase family 1 member A1 isoform X2 [Homo sapiens].
ACCESSION   XP_054189783
VERSION     XP_054189783.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054333808.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..210
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..210
                     /product="aldo-keto reductase family 1 member A1 isoform
                     X2"
                     /calculated_mol_wt=23062
     CDS             1..210
                     /gene="AKR1A1"
                     /gene_synonym="ALDR1; ALR; ARM; DD3; HEL-S-6"
                     /coded_by="XM_054333808.1:337..969"
                     /db_xref="GeneID:10327"
                     /db_xref="HGNC:HGNC:380"
                     /db_xref="MIM:103830"
ORIGIN      
        1 maascvllht gqkmpliglg twksepgqvk aavkyalsvg yrhidcaaiy gnepeigeal
       61 kedvgpgkav preelfvtsk lwntkhhped vepalrktla dlqleyldly lmhwpyafer
      121 gdnpfpknad gticydsthy ketwkaleal vakglvqalg lsnfnsrqid dilsvasvrp
      181 avlqvagpae sdlhpqkyhs fsnpsehqgv
//
LOCUS       XP_054191332            1325 aa            linear   PRI 20-MAR-2023
DEFINITION  microtubule-associated serine/threonine-protein kinase 2 isoform
            X29 [Homo sapiens].
ACCESSION   XP_054191332
VERSION     XP_054191332.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335357.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1325
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1325
                     /product="microtubule-associated serine/threonine-protein
                     kinase 2 isoform X29"
                     /calculated_mol_wt=146965
     CDS             1..1325
                     /gene="MAST2"
                     /gene_synonym="MAST205; MTSSK"
                     /coded_by="XM_054335357.1:285..4262"
                     /db_xref="GeneID:23139"
                     /db_xref="HGNC:HGNC:19035"
                     /db_xref="MIM:612257"
ORIGIN      
        1 mkrsrcrdrp qppppdrred gvqraaelsq slpprrrapp grqrleertg pagpegkeqd
       61 vvtgvspllf rklsnpdifs stgkvklqrq lsqddcklwr gnlasslsgk qllplsssvh
      121 ssvgqvtwqs sgeasnlvrm rnqslgqsap sltaglkels lprrgsfcrt snrkslivts
      181 stsptlprph splhghtgns pldsprnfsp napahfsfvp arrtdgrrws laslpssgyg
      241 tntpsstvss scssqeklhq lpfqptadel hfltkhfste svpdeegrqs pamrprsrsl
      301 spgrspvsfd seiimmnhvy kerfpkataq meerlaefis sntpdsvlpl adgalsfihh
      361 qviemardcl dksrsglits qyfyelqdnl ekllqdaher sessevafvm qlvkklmiii
      421 arparllecl efdpeefyhl leaaeghake gqgikcdipr yivsqlgltr dpleemaqls
      481 scdspdtpet ddsieghgas lpskktpsee dfetiklisn gaygavflvr hkstrqrfam
      541 kkinkqnlil rnqiqqafve rdiltfaenp fvvsmfcsfd tkrhlcmvme yveggdcatl
      601 lknigalpvd mvrlyfaetv laleylhnyg ivhrdlkpdn llitsmghik ltdfglskig
      661 lmslttnlye ghiekdaref ldkqvcgtpe yiapevilrq gygkpvdwwa mgiilyeflv
      721 gcvpffgdtp eelfgqvisd eivwpegdea lppdaqdlts kllhqnpler lgtgsayevk
      781 qhpfftgldw tgllrqkaef ipqleseddt syfdtrsery hhmdsedeee vsedgcleir
      841 qfsscsprfn kvyssmerls lleerrtppp tkrslseeke dhsdglaglk grdrswvigs
      901 peilrkrlsv sesshtesds sppmtvrrrc sglldaprfp egpeeasstl rrqpqegiwv
      961 ltppsgegvs gpvtehsgeq rpkldeeavg rssgsspame trgrgtsqla egatakaisd
     1021 lavrrarhrl lsgdstekrt arpvnkviks asatalslli psehhtcspl aspmsphsqs
     1081 snpssrdssp srdflpalgs mrppiiihra gkkygftlra irvymgdsdv ytvhhmvwhv
     1141 edggpaseag lrqgdlithv ngepvhglvh tevvelilks gnkvaisttp lentsikvgp
     1201 arkgsykakm arrskrsrgk dgqesrkrss lfrkitkqas llhtsrslss lnrslssges
     1261 gpgspthshs lsprsptqgy rvtpdavhsg nshgprvrsh pvhhysrgcs rlrnwqqhlp
     1321 plrrs
//
LOCUS       XP_054191449            1403 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor L2 isoform X5 [Homo sapiens].
ACCESSION   XP_054191449
VERSION     XP_054191449.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335474.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1403
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1403
                     /product="adhesion G protein-coupled receptor L2 isoform
                     X5"
                     /calculated_mol_wt=157048
     CDS             1..1403
                     /gene="ADGRL2"
                     /gene_synonym="CIRL2; CL2; LEC1; LPHH1; LPHN2"
                     /coded_by="XM_054335474.1:489..4700"
                     /db_xref="GeneID:23266"
                     /db_xref="HGNC:HGNC:18582"
                     /db_xref="MIM:607018"
ORIGIN      
        1 mvssgcrmrs lwfiivisfl pntegfsraa lpfglvrrel scegysidlr cpgsdvimie
       61 sanygrtddk icdadpfqme ntdcylpdaf kimtqrcnnr tqcivvtgsd vfpdpcpgty
      121 kylevqyecv pyifvcpgtl kaivdspciy eaeqkagawc kdplqaadki yfmpwtpyrt
      181 dtlieyasle dfqnsrqttt yklpnrvdgt gfvvydgavf fnkertrniv kfdlrtriks
      241 geaiinyany hdtspyrwgg ktdidlavde nglwviyate qnngmivisq lnpytlrfea
      301 twetvydkra asnafmicgv lyvvrsvyqd nesetgknsi dyiyntrlnr geyvdvpfpn
      361 qyqyiaavdy nprdnqlyvw nnnfilrysl efgppdpaqv pttavtitss aelfktiist
      421 tsttsqkgpm sttvagsqeg skgtkpppav sttkippitn ifplperfce aldskgikwp
      481 qtqrgmmver pcpkgtrgta sylcmistgt wnpkgpdlsn ctshwvnqla qkirsgenaa
      541 slanelakht kgpvfagdvs ssvrlmeqlv dildaqlqel kpsekdsagr synkaivdtv
      601 dnllrpeale swkhmnsseq ahtatmlldt leegafvlad nlleptrvsm ptenivleva
      661 vlstegqiqd fkfplgikga gssiqlsant vkqnsrngla klvfiiyrsl gqflstenat
      721 iklgadfigr nstiavnshv isvsinkess rvyltdpvlf tlphidpdny fnancsfwny
      781 sertmmgyws tqgcklvdtn ktrttcacsh ltnfailmah reiaykdgvh ellltvitwv
      841 givislvcla iciftfcffr glqsdrntih knlcinlfia efifligidk tkyaiacpif
      901 agllhfffla afawmclegv qlylmlvevf eseysrkkyy yvagylfpat vvgvsaaidy
      961 ksygtekacw lhvdnyfiws figpvtfiil lniiflvitl ckmvkhsntl kpdssrleni
     1021 kswvlgafal lcllgltwsf gllfineeti vmaylftifn afqgvfifif hcalqkkvrk
     1081 eygkcfrhsy ccgglptesp hssvkasttr tsaryssgtq srirrmwndt vrkqsessfi
     1141 sgdinststl nqghslnnar dtsamdtlpl ngnfnnsysl hkgdyndsvq vvdcglslnd
     1201 tafekmiise lvhnnlrgss kthnleltlp vkpviggsss eddaivadas slmhsdnpgl
     1261 elhhkeleap lipqrthsll yqpqkkvkse gtdsyvsqlt aeaedhlqsp nrdslytsmp
     1321 nlrdspypes spdmeedlsp srrsenediy yksmpnlgag hqlqmcyqis rgnsdgyiip
     1381 inkegcipeg dvregqmqlv tsl
//
LOCUS       XP_054193656             600 aa            linear   PRI 20-MAR-2023
DEFINITION  protein kinase C zeta type isoform X2 [Homo sapiens].
ACCESSION   XP_054193656
VERSION     XP_054193656.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337681.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..600
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..600
                     /product="protein kinase C zeta type isoform X2"
                     /calculated_mol_wt=68511
     CDS             1..600
                     /gene="PRKCZ"
                     /gene_synonym="PKC-ZETA; PKC2"
                     /coded_by="XM_054337681.1:221..2023"
                     /db_xref="GeneID:5590"
                     /db_xref="HGNC:HGNC:9412"
                     /db_xref="MIM:176982"
ORIGIN      
        1 mpsrtgpkme gsggrvrlka hyggdifits vdaattfeel ceevrdmcrl hqqhpltlkw
       61 vdsegdpctv ssqmeleeaf rlarqcrdeg liihvfpstp eqpglpcpge dksiyrrgar
      121 rwrklyrang hlfqakrfnr raycgqcser iwglarqgyr cinckllvhk rchglvpltc
      181 rkhmdsvmps qeppvddkne dadlpseetd giayisssrk hdsikddsed lkpvidgmdg
      241 ikisqglglq dfdlirvigr gsyakvllvr lkkndqiyam kvvkkelvhd dedidwvqte
      301 khvfeqassn pflvglhscf qttsrlrrls pcrlflviey vnggdlmfhm qrqrklpeeh
      361 arfyaaeici alnflhergi iyrdlkldnv lldadghikl tdygmckegl gpgdttstfc
      421 gtpnyiapei lrgeeygfsv dwwalgvlmf emmagrspfd iitdnpdmnt edylfqvile
      481 kpiriprfls vkashvlkgf lnkdpkerlg crpqtgfsdi kshaffrsid wdllekkqal
      541 ppfqpqitdd ygldnfdtqf tsepvqltpd dedaikridq sefegfeyin plllsteesv
//
LOCUS       XP_054195221            1783 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase MRCK alpha isoform X7 [Homo
            sapiens].
ACCESSION   XP_054195221
VERSION     XP_054195221.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339246.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1783
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1783
                     /product="serine/threonine-protein kinase MRCK alpha
                     isoform X7"
                     /calculated_mol_wt=202769
     CDS             1..1783
                     /gene="CDC42BPA"
                     /gene_synonym="MRCK; MRCKA; PK428"
                     /coded_by="XM_054339246.1:1313..6664"
                     /db_xref="GeneID:8476"
                     /db_xref="HGNC:HGNC:1737"
                     /db_xref="MIM:603412"
ORIGIN      
        1 msgevrlrql eqfildgpaq tngqcfsvet lldiliclyd ecnnsplrre knileylewa
       61 kpftskvkqm rlhredfeil kvigrgafge vavvklknad kvfamkilnk wemlkraeta
      121 cfreerdvlv ngdnkwittl hyafqddnnl ylvmdyyvgg dlltllskfe drlpedmarf
      181 ylaemviaid svhqlhyvhr dikpdnilmd mnghirladf gsclklmedg tvqssvavgt
      241 pdyispeilq amedgkgryg pecdwwslgv cmyemlyget pfyaeslvet ygkimnhker
      301 fqfpaqvtdv senakdlirr licsrehrlg qngiedfkkh pffsgidwdn irnceapyip
      361 evssptdtsn fdvdddclkn setmppptht afsghhlpfv gftytsscvl sdrsclrvta
      421 gptsldldvn vqrtldnnla teayerrikr leqeklelsr klqestqtvq alqystvdgp
      481 ltaskdleik nlkeeieklr kqvtesshle qqleeanavr qelddafrqi kayekqiktl
      541 qqeredlnke lvqaserlkn qskelkdahc qrklamqefm einerltelh tqkqklarhv
      601 rdkeeevdlv mqkveslrqe lrrterakke levhtealaa easkdrklre qsehyskqle
      661 neleglkqkq isyspgvcsi ehqqeitklk tdlekksify eeelskregi haneiknlkk
      721 elhdsegqql alnkeimilk dklektrres qsereefese fkqqyerekv llteenkklt
      781 seldklttly enlsihnqql eeevkdladk kesvahweaq iteiiqwvsd ekdargylqa
      841 laskmteele alrnsslgtr atdmpwkmrr fakldmsarl elqsaldaei rakqaiqeel
      901 nkvkasniit ecklkdsekk nlellseieq likdteelrs ekgiehqdsq hsflaflntp
      961 tdaldqfeds fsssssslid flddrspsct paskgrrtdp ventyvwnps vkfhiqsrst
     1021 spstsseaep vktvdstpls vhtptlrkkg cpgstgfppk rkthqffvks fttptkchqc
     1081 tslmvglirq gcscevcgfs chitcvnkap ttcpvppeqt kgplgidpqk gigtayeghv
     1141 ripkpagvkk gwqralaivc dfklflydia egkasqpsvv isqvidmrde efsvssvlas
     1201 dvihasrkdi pcifrvtasq lsasnnkcsi lmladtenek nkwvgvlsel hkilkknkfr
     1261 drsvyvpkea ydstlplikt tqaaaiidhe rialgneegl fvvhvtkdei irvgdnkkih
     1321 qielipndql vavisgrnrh vrlfpmsald gretdfykls etkgcqtvts gkvrhgaltc
     1381 lcvamkrqvl cyelfqsktr hrkfkeiqvp ynvqwmaifs eqlcvgfqsg flryplngeg
     1441 npysmlhsnd htlsfiahqp mdaicaveis skeyllcfns igiytdcqgr rsrqqelmwp
     1501 anpssccyna pylsvysena vdifdvnsme wiqtlplkkv rplnnegsln llgletirli
     1561 yfknkmaegd elvvpetsdn srkqmvrnin nkrrysfrvp eeermqqrre mlrdpemrnk
     1621 lisnptnfnh iahmgpgdgi qilkdlpmnp rpqesrtvfs gsvsipsitk srpepgrsms
     1681 assglsarss aqngsalkre fsggsysakr qpmpspsegs lssggmdqgs dapardfdge
     1741 dsdsprhsta snssnlsspp spasprktks lslestdrgs wdp
//
LOCUS       XP_054220504            2877 aa            linear   PRI 20-MAR-2023
DEFINITION  transforming acidic coiled-coil-containing protein 2 isoform X26
            [Homo sapiens].
ACCESSION   XP_054220504
VERSION     XP_054220504.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364529.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2877
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2877
                     /product="transforming acidic coiled-coil-containing
                     protein 2 isoform X26"
                     /calculated_mol_wt=302538
     CDS             1..2877
                     /gene="TACC2"
                     /gene_synonym="AZU-1; ECTACC"
                     /coded_by="XM_054364529.1:247..8880"
                     /db_xref="GeneID:10579"
                     /db_xref="HGNC:HGNC:11523"
                     /db_xref="MIM:605302"
ORIGIN      
        1 mgnenstsdn qqedsvlhnv ilwppnpept qrtlsaqtpr saqppgnsqn ikrkqqdtpg
       61 spdhrdassi gsvglggfct asessasldp clvspevtep rkdpqgargp egsllpsppp
      121 sqerehpsss mpfaecppeg claspaaape dgpqtqsprr epapnapgdi aaafpaerds
      181 stpyqeiaav psagrerqpk eegqkssfsf ssgidqspgm spvplrepmk aplcgegdqp
      241 ggfesqekea aggfppaesr qgvasvqvtp eapaaaqqgt essavleksp lkpmapipqd
      301 paprasdrer gqgeappqyl tddleflrac hlprsnsgaa peaevnaasq escqqpvgay
      361 lphaelpwgl pspalvpeag gsgkealdti dvqghpqtgm rgtkpnqvvc vaaggqpegg
      421 lpvspepsll tpteeahpas slasfpaaqi piaveepgss sresvskagm pvsadaakev
      481 vdaglvgler qvsdlgskge hpegdpgevp apspqergeh lnteqshevq pgvpppplpk
      541 eqshevqpga pppplpkaps esargppgpt dgakvhedst spavakegsr spgdspggke
      601 eapeppdggd pgnlqgedsq afsskrdpev gkdelskpss daesrdhpss hsaqpprkgg
      661 aghtdgphsq taeadasglp hklgeedpvl ppvpdgagep tvpegaiweg sglqpkcpdt
      721 lqsreglgrm esfltlesek sdfpptpvae vapkaqeges tleirkmgsc dgeglltspd
      781 qprgpacdas rqefhagvph ppqgenlaad lgltalildq dqqgipscpg egwirgaase
      841 wpllssekhl qpsqaqpets ifdvlkeqaq ppengketsp shpgfkdqga dssqihvpve
      901 pqednnlpth ggqeqalgse lqsqlpkgtl sdtptssptd mvwessltee selsaptrqk
      961 lpalgekrpe gacgdgqssr vsppaadvlk dfslagnfsr ketcctgqgp nksqqalada
     1021 leegsqheea cqrhpgasea adgcsplwgl skremasgnt geappcqpds valldavpcl
     1081 palapaspgv tptqdapete acdetqegrq qpvpapqqkm ecratsdaes pkllasfpsa
     1141 geqggeagaa etggsagagd pgkqqapekp geatlscgll qtehcltsge eastsalres
     1201 cqaehpmasc qdallparel ggiprstmdf sthqavpdpk elllsgppev aapdtpylhv
     1261 dsaaqrgaed sgvkavssad prapgespcp vgepplalen aaslklfags lapllqpgaa
     1321 ggeipavqas sgspkartte gpvdsmpcld rmpllakgkq atgeekaata pgagakasge
     1381 gmagdaaget egsmermgep sqdpkqgtsg gvdtsseqia tltgfpdfre hiakifekpv
     1441 lgalatpgek agagrsavgk dltrplgpek lldgppgvdv tllpapparl qvekkqqlag
     1501 eaeishlalq dpasdkllgp agltwernlp gagvgkemag vpptlreder pegpgaawpg
     1561 legqaysqle rsrqelasgl pspaatqelp veraaafqva phshgeeava qdripsgkqh
     1621 qetsacdsph gedgpgdfah tgvpghvprs tcapspqrev ltvpeansep wtldtlgger
     1681 rpgvtagile mrnalgnqst papptgevad tplepgkvag aageaegdit lstaetqaca
     1741 sgdlpeagtt rtfsvvagdl vlpgscqdpa csdkapgmeg taalhgdspa rpqqakeqpg
     1801 perpipagdg kvcvssppep dethdpklqh lapeelhtdr esprpgpsml psvpkkdapr
     1861 vmdkvtsdet rgaegterss dseeafetpe sttpvkappa ppppppevip epevstqppp
     1921 eepgcgsetv pvpdgprsds vegspfrpps hsfsavfded kpiassgtyn ldfdnielvd
     1981 tfqtlepras daknqegkvn trrkstdsvp iskstlsrsl slqasdfdga sssgnpeava
     2041 lapdaystgs ssasstlkrt kkprppslkk kqttkkptet ppvketqqep deeslvpsge
     2101 nlasetktes aktegpspal leetplepav gpkaacplds esaegvvppa sgggrvqnsp
     2161 pvgrktlplt tapeagevtp sdsggqedsp akglsvrlef dysedksswd nqqenppptk
     2221 kigkkpvakm plrrpkmkkt pekldntpas pprspaepnd ipiakgtytf didkwddpnf
     2281 npfsstskmq espklpqqsy nfdpdtcdes vdpfktsskt psspskspas feipasamea
     2341 ngvdgdglnk pakkkktplk tvkkspkrsp lsdppsqdpt paatpetppv isavvhatde
     2401 eklavtnqkw tcmtvdlead kqdypqpsdl stfvnetkfs spteeldyrn syeieymeki
     2461 gsslpqddda pkkqalylmf dtsqespvks spvrmsespt pcsgssfeet ealvntaakn
     2521 qhpvprglap nqeshlqvpe kssqkeleam glgtpseaie itapegsfas adallsrlah
     2581 pvslcgaldy lepdlaeknp plfaqklqee lefaimriea lklarqiala srshqdakre
     2641 aahptdvsis ktalysrigt aevekpagll fqqpdldsal qiaraeiitk erevsewkdk
     2701 yeesrrevme mrkivaeyek tiaqmiedeq reksvshqtv qqlvlekeqa ladlnsveks
     2761 ladlfrryek mkevlegfrk neevlkrcaq eylsrvkkee qryqalkvha eekldranae
     2821 iaqvrgkaqq eqaahqaslr keqlrvdale rtleqknkei eeltkicdel iakmgks
//
LOCUS       XP_054221817            1230 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium-activated potassium channel subunit alpha-1 isoform X40
            [Homo sapiens].
ACCESSION   XP_054221817
VERSION     XP_054221817.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365842.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1230
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1230
                     /product="calcium-activated potassium channel subunit
                     alpha-1 isoform X40"
                     /calculated_mol_wt=136917
     CDS             1..1230
                     /gene="KCNMA1"
                     /gene_synonym="bA205K10.1; BKTM; CADEDS; hSlo; IEG16;
                     KCa1.1; LIWAS; MaxiK; mSLO1; PNKD3; SAKCA; SLO; SLO-ALPHA;
                     SLO1"
                     /coded_by="XM_054365842.1:173..3865"
                     /db_xref="GeneID:3778"
                     /db_xref="HGNC:HGNC:6284"
                     /db_xref="MIM:600150"
ORIGIN      
        1 manggggggg ssgggggggg sslrmssnih anhlsldass ssssssssss ssssssssss
       61 vhepkmdali ipvtmevpcd srgqrmwwaf lassmvtffg glfiillwrt lkylwtvcch
      121 cggktkeaqk inngssqadg tlkpvdekee avaaevgwmt svkdwagvmi saqtltgrvl
      181 vvlvfalsig alviyfidss npiescqnfy kdftlqidma fnvffllyfg lrfiaandkl
      241 wfwlevnsvv dfftvppvfv svylnrswlg lrflralrli qfseilqfln ilktsnsikl
      301 vnllsifist wltaagfihl vensgdpwen fqnnqaltyw ecvyllmvtm stvgygdvya
      361 kttlgrlfmv ffilgglamf aryvpeiaal ilsrnkfggt fnkhggrkhi vvcghitles
      421 vsnflkdflh kdrddvnvei vflhnispnl elealfkrhf tqvefyqgsv lnphdlarvk
      481 iesadaclil ankycadpda edasnimrvi siknyhpkir iitqmlqyhn kahllnipsw
      541 nwkegddaic laelklgfia qsclaqglst mlanlfsmrs fikieedtwq kyylegvsne
      601 myteylssaf vglsfptvce lcfvklkllm iaieyksanr esrilinpgn hlkiqegtlg
      661 ffiasdakev kraffyckac hdditdpkri kkcgckrled eqpstlspkk kqrnggmrns
      721 pntspklmrh dpllipgndq idnmdsnvkk ydstgmfhwc apkeiekvil trseaamtvl
      781 sghvvvcifg dvssaliglr nlvmplrasn fhyhelkhiv fvgsieylkr ewetlhnfpk
      841 vsilpgtpls radlravnin lcdmcvilsa nqnniddtsl qdkecilasl niksmqfdds
      901 igvlqansqg ftppgmdrss pdnspvhgml rqpsittgvn ipiitelvnd tnvqfldqdd
      961 dddpdtelyl tqpfacgtaf avsvldslms atyfndnilt lirtlvtgga tpelealiae
     1021 enalrggyst pqtlanrdrc rvaqlalldg pfadlgdggc ygdlfckalk tynmlcfgiy
     1081 rlrdahlstp sqctkryvit nppyefelvp tdlifclmqf dhnagqsras lshsshssqs
     1141 sskksssvhs ipstanrqnr pksresrdkq natrmnrmgq ekkwftdepd nayprniqik
     1201 pmsthmanqi nqykstssli ppirevedec
//
LOCUS       XP_054225591             146 aa            linear   PRI 20-MAR-2023
DEFINITION  p53-regulated apoptosis-inducing protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054225591
VERSION     XP_054225591.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369616.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..146
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..146
                     /product="p53-regulated apoptosis-inducing protein 1
                     isoform X1"
                     /calculated_mol_wt=15453
     CDS             1..146
                     /gene="TP53AIP1"
                     /gene_synonym="P53AIP1"
                     /coded_by="XM_054369616.1:29..469"
                     /db_xref="GeneID:63970"
                     /db_xref="HGNC:HGNC:29984"
                     /db_xref="MIM:605426"
ORIGIN      
        1 mcrrrpfprt lrllggrqgl pwmgssseas frsaqascsg arrqglgrgd qnlsvmppng
       61 raqthtpgwv sdplvlgaqv hggcrgieal svssgswssa tvwiltglgl glsrpflpga
      121 tvlrdrplgs afelsydqkk aplrlq
//
LOCUS       XP_054225805            1147 aa            linear   PRI 20-MAR-2023
DEFINITION  myelin regulatory factor isoform X2 [Homo sapiens].
ACCESSION   XP_054225805
VERSION     XP_054225805.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369830.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1147
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1147
                     /product="myelin regulatory factor isoform X2"
                     /calculated_mol_wt=123884
     CDS             1..1147
                     /gene="MYRF"
                     /gene_synonym="11orf9; C11orf9; CUGS; MMERV; MRF; Ndt80;
                     pqn-47"
                     /coded_by="XM_054369830.1:110..3553"
                     /db_xref="GeneID:745"
                     /db_xref="HGNC:HGNC:1181"
                     /db_xref="MIM:608329"
ORIGIN      
        1 mevvdeteal qrffeghdin galepsnidt sileeyiske dasdlcfpdi sapassasys
       61 hgqpampgss gvhhlsppgg gpspgrhgpl pppgygtpln cnnnngmgaa pkpfpggtgp
      121 pikaepkapy apgtlpdspp dsgseayspq qvnephllrt itpetlchvg vpsrlehppp
      181 ppahlpgppp pppppphypv lqrdlymkae ppiphyaamg qglvptdlhh tqqsqmlhql
      241 lqqhgaelpt hpskkrkhse sppstlnaqm lngmikqepg tvtalplhpt rapsppwppq
      301 gplspgpgsl plsiarvqtp pwhppgapsp gllqdsdsls gsyldpnyqs ikwqphqqnk
      361 watlydanyk elpmltyrvd adkgfnfsvg ddafvcqkkn hfqvtvyigm lgepkyvktp
      421 eglkpldcfy lklhgvklea lnqsinieqs qsdrskrpfn pvtvnlppeq vtkvtvgrlh
      481 fsettannmr kkgkpnpdqr yfmlvvalqa haqnqnytla aqiseriivr asnpgqfesd
      541 sdvlwqraqv pdtvfhhgrv gintdrpdea lvvhgnvkvm gslmhpsdlr akehvqevdt
      601 teqlkrisrm rlvhyrykpe faasagieat apetgviaqe vkeilpeavk dtgdmvfang
      661 ktienflvvn kerifmenvg avkelckltd nletridele rwshklaklr rldslkstgs
      721 sgafshagsq fsragsvphk krppkvasks ssvvpdqaci sqrflqgtii alvvvmafsv
      781 vsmstlyvls lrteedlvdt dgsfavstsc llallrpqpp ggsealcpcr ssqsfgttql
      841 rqsplttglp giqpslllvt tsltssapgs avrtldmcss hpcpviccss pttnpttgps
      901 lgpsfnpghv lspspspstn rsgpsqmall pvtniraksw glsvngighs khhkslepla
      961 spavpfpggq gkaknspslg fhgrarrgal qssvgpaept waqgqsepvp sltsiqvlen
     1021 smsitsqyca pgdacrpgnf tyhipvssgt plhlsltlqm nssspvsvvl cslrskeepc
     1081 eegslpqslh thqdtqgtsh rwpitilsfr eftyhfrval lgqancssea laqpatdyhf
     1141 hfyrlcd
//
LOCUS       XP_054228795             649 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-dependent DNA helicase Q1 isoform X1 [Homo sapiens].
ACCESSION   XP_054228795
VERSION     XP_054228795.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372820.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..649
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..649
                     /product="ATP-dependent DNA helicase Q1 isoform X1"
                     /calculated_mol_wt=73327
     CDS             1..649
                     /gene="RECQL"
                     /gene_synonym="RecQ1; RECQL1"
                     /coded_by="XM_054372820.1:426..2375"
                     /db_xref="GeneID:5965"
                     /db_xref="HGNC:HGNC:9948"
                     /db_xref="MIM:600537"
ORIGIN      
        1 masvsaltee ldsitselha veiqiqelte rqqeliqkkk vltkkikqcl edsdagasne
       61 ydsspaawnk edfpwsgkvk dilqnvfkle kfrplqleti nvtmagkevf lvmptgggks
      121 lcyqlpalcs dgftlvicpl islmedqlmv lkqlgisatm lnassskehv kwvhaemvnk
      181 nselkliyvt pekiakskmf msrlekayea rrftriavde vhccsqwghd frpdykalgi
      241 lkrqfpnasl igltatatnh vltdaqkilc iekcftftas fnrpnlyyev rqkpsntedf
      301 iedivkling rykgqsgiiy cfsqkdseqv tvslqnlgih agayhanlep edkttvhrkw
      361 saneiqvvva tvafgmgidk pdvrfvihhs msksmenyyq esgragrddm kadcilyygf
      421 gdifrissmv vmenvgqqkl yemvsycqni skcrrvlmaq hfdevwnsea cnkmcdncck
      481 dsaferknit eycrdlikil kqaeelnekl tplklidswm gkgaaklrva gvvaptlpre
      541 dlekiiahfl iqqylkedys ftayatisyl kigpkanlln neahaitmqv tkstqnsfra
      601 essqtchseq gdkkmeekns gnfqkkaanm lqqsgskntg akkrkidda
//
LOCUS       XP_054229213             267 aa            linear   PRI 20-MAR-2023
DEFINITION  vacuolar protein sorting-associated protein 37B isoform X2 [Homo
            sapiens].
ACCESSION   XP_054229213
VERSION     XP_054229213.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373238.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..267
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..267
                     /product="vacuolar protein sorting-associated protein 37B
                     isoform X2"
                     /calculated_mol_wt=29414
     CDS             1..267
                     /gene="VPS37B"
                     /coded_by="XM_054373238.1:2689..3492"
                     /db_xref="GeneID:79720"
                     /db_xref="HGNC:HGNC:25754"
                     /db_xref="MIM:610037"
ORIGIN      
        1 mtgvalkksc lkrnrdtrwt qnvqlnkemt lasnrslaeg nllyqpqldt lkarltqkyq
       61 elqvlfeayq ikktkldrqs ssasletlla llqaegakie edtenmaekf ldgelpldsf
      121 idvyqskrkl ahmrrvkiek lqemvlkgqr lpqalaplpp rlpelaptap lpypapeasg
      181 ppavaprrip pppppvpagr latpftaams sgqavpypgl qcpplpprvg lptqqgfssq
      241 fvspyppplp qrppprlpph qpgfilq
//
LOCUS       XP_054230420            1003 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase LATS2 isoform X2 [Homo sapiens].
ACCESSION   XP_054230420
VERSION     XP_054230420.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374445.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1003
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1003
                     /product="serine/threonine-protein kinase LATS2 isoform
                     X2"
                     /calculated_mol_wt=110931
     CDS             1..1003
                     /gene="LATS2"
                     /gene_synonym="KPM"
                     /coded_by="XM_054374445.1:39..3050"
                     /db_xref="GeneID:26524"
                     /db_xref="HGNC:HGNC:6515"
                     /db_xref="MIM:604861"
ORIGIN      
        1 mqrygcrers lersprlerh cppgalqema gralkqtgsr sieaaleyis kmgyldprne
       61 qivrvikqts pgkglmptpv trrpsfegtg dsfasyhqls gtpyegpsfg adgptaleem
      121 prpyvdylfp gvgphgpghq hqhppkgyga sveaagahfp lqgahygrph llvpgeplgy
      181 gvqrspsfqs ktppetggya slptkgqggp pgaglafppp aaglyvphph hkqagpvahq
      241 lhvlgsrsqv fasdsppqsl ltpsrnslnv dlyelsstsv qqwpaatlar rdslqkpgle
      301 apprahvafr pdcpvpsrtn sfnshqprpg ppgkaepslp apntvtavta ahilhpvksv
      361 rvlrpepqta vgpshpawvp apapapapap apapaaegld akeehalalg gagafpldve
      421 yggpdrrcpp ppypkhlllr skseqydlds lcagmeqslr agpnepeggd ksrksakgdk
      481 ggkdkkqiqt spvpvrknsr deekresrik syspyafkff meqhvenvik tyqqkvnrrl
      541 qleqemakag lceaeqeqmr kilyqkesny nrlkrakmdk smfvkiktlg igafgevcla
      601 ckvdthalya mktlrkkdvl nrnqvahvka erdilaeadn ewvvklyysf qdkdslyfvm
      661 dyipggdmms llirmevfpe hlarfyiael tlaiesvhkm gfihrdikpd nilidldghi
      721 kltdfglctg frwthnskyy qkgshvrqds mepsdlwddv sncrcgdrlk tleqrarkqh
      781 qrclahslvg tpnyiapevl lrkgytqlcd wwsvgvilfe mlvgqppfla ptptetqlkv
      841 inwentlhip aqvklspear dlitklccsa dhrlgrngad dlkahpffsa idfssdirkq
      901 papyvptish pmdtsnfdpv deespwndas egstkawdtl tspnnkhpeh afyeftfrrf
      961 fddngypfrc pkpsgaeasq aessdlessd lvdqtegcqp vyv
//
LOCUS       XP_054230708            1543 aa            linear   PRI 20-MAR-2023
DEFINITION  UDP-glucose:glycoprotein glucosyltransferase 2 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054230708
VERSION     XP_054230708.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374733.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1543
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1543
                     /product="UDP-glucose:glycoprotein glucosyltransferase 2
                     isoform X4"
                     /calculated_mol_wt=177579
     CDS             1..1543
                     /gene="UGGT2"
                     /gene_synonym="HUGT2; UGCGL2; UGT2"
                     /coded_by="XM_054374733.1:90..4721"
                     /db_xref="GeneID:55757"
                     /db_xref="HGNC:HGNC:15664"
                     /db_xref="MIM:605898"
ORIGIN      
        1 mapakatnvv rlllgstalw lsqlgsgtva asksvtahla akwpetplll easefmaees
       61 nekfwqflet vqelaiykqt esdysyynli lkkagqfldn lhinllkfaf sirayspaiq
      121 mfqqiaadep ppdgcnafvv ihkkhtckin eikkllkkaa srtrpylfkg dhkfptnken
      181 lpvvilyaem gtrtfsafhk vlsekaqnee ilyvlrhyiq kpssrkmyls gygvelaiks
      241 teykalddtq vktvtnttve detetnevqg flfgklkeiy sdlrdnltaf qkyliesnkq
      301 mmplkvwelq dlsfqaasqi msapvydaik lmkdisqnfp ikarsltria vnqhmreeik
      361 enqkdlqvrf kiqpgdarlf inglrvdmdv ydafsildml klegkmmngl rnlgingedm
      421 skflklnshi weytyvldir hssimwindl enddlyitwp tscqkllkpv fpgsvpsirr
      481 nfhnlvlfid paqeytldfi kladvfyshe vplrigfvfi lntddevdga ndagvalwra
      541 fnyiaeefdi seafisivhm yqkvkkdqni ltvdnvksvl qntfphaniw dilgihskyd
      601 eerkagasfy kmtglgplpq alyngepfkh eemnikelkm avlqrmmdas vylqrevflg
      661 tlndrtnaid flmdrnnvvp rintlilrtn qqylnlists vtadvedfst fffldsqdks
      721 aviaknmyyl tqddesiisa vtlwiiadfd kpsgrkllfn alkhmktsvh srlgiiynpt
      781 skineentai srgilaaflt qknmflrsfl gqlakeeiat aiysgdkikt fliegmdkna
      841 fekkyntvgv nifrthqlfc qdvlklrpge mgivsngrfl gpldedfyae dfyllekitf
      901 snlgekikgi venmginann msdfimkvda lmssvpkras rydvtflren hsviktnpqe
      961 ndmffnviai vdpltreaqk maqllvvlgk iinmkiklfm ncrgrlseap leritvihye
     1021 pfllmgifss pscvigqktg fyrfvlepel msgandvssl gpvakfldip espllilnmi
     1081 tpegwlvetv hsncdldnih lkdtektvta eyeleyllle gqcfdkvteq pprglqftlg
     1141 tknkpavvdt ivmahhgyfq lkanpgawil rlhqgksedi yqivghegtd sqadlediiv
     1201 vlnsfkskil kvkvkketdk ikediltded ektkglwdsi ksftvslhke nkkekdvlni
     1261 fsvasghlye rflrimmlsv lrntktpvkf wllknylspt fkeviphmak eygfryelvq
     1321 yrwprwlrqq terqriiwgy kilfldvlfp lavdkiifvd adqivrhdlk elrdfdldga
     1381 pygytpfcds rremdgyrfw ktgywashll rrkyhisaly vvdlkkfrri gagdrlrsqy
     1441 qalsqdpnsl snldqdlpnn miyqvaiksl pqdwlwcetw cddeskqrak tidlcnnpkt
     1501 kesklkaaar ivpewveyda eirqlldhle nkkqdtilth del
//
LOCUS       XP_054231398             237 aa            linear   PRI 20-MAR-2023
DEFINITION  mitochondrial basic amino acids transporter isoform X5 [Homo
            sapiens].
ACCESSION   XP_054231398
VERSION     XP_054231398.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375423.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..237
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..237
                     /product="mitochondrial basic amino acids transporter
                     isoform X5"
                     /calculated_mol_wt=24920
     CDS             1..237
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /coded_by="XM_054375423.1:2013..2726"
                     /db_xref="GeneID:123096"
                     /db_xref="HGNC:HGNC:20116"
                     /db_xref="MIM:615064"
ORIGIN      
        1 mgltfinalv fgvqgntlra lghdsplnqf lagaaagaiq cviccpmela ktrlqlqdag
       61 partykgsld claqiygheg lrgvnrgmvs tllretpsfg vyfltydalt ralgcepgdr
      121 llvpklllag gtsgivswls typvdvvksr lqadglrgap ryrgildcvh qsyraegwrv
      181 ftrglastll rafpvnaatf atvtvvltya rgeeagpege avpaapagpa laqpssl
//
LOCUS       XP_054233450             565 aa            linear   PRI 20-MAR-2023
DEFINITION  protein PAT1 homolog 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054233450
VERSION     XP_054233450.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377475.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..565
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..565
                     /product="protein PAT1 homolog 2 isoform X3"
                     /calculated_mol_wt=63457
     CDS             1..565
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; Pat1a"
                     /coded_by="XM_054377475.1:439..2136"
                     /db_xref="GeneID:197135"
                     /db_xref="HGNC:HGNC:33630"
                     /db_xref="MIM:614661"
ORIGIN      
        1 mnclegpgkt cgplaseeel vsacqlekee enegeeeeee edeedldpdl dpdleeeend
       61 lgdpavlgav hntqrallss pgvkapgvlg mslaslhflw qtldylspip fwptfpstss
      121 paqhfgprlp spdptlfcsl ltswpprfsh ltqlhprhqr ilqqqqhsqt psppakkpws
      181 qqpdpyanlm trkekdwvik vqmvqlqsak prlddyyyqe yyqklekkqa deellgrrnr
      241 veslklvtpy ipkaeayesv vriegslgqv avstcfsprr aidavphgtq eqdieaassq
      301 rlrvlyriek mflqlleiee gwkyrppppc fseqqsnqve klfqtlktqe qnnleeaadg
      361 flqvlsvrkg kalvarllpf lpqdqavtil laithhlpll vrrdvadqal qmlfkplgkc
      421 ishltlhell qglqgltllp pgsserpvtv vlqnqdrhgg sdclgdspna yslsgrtpsf
      481 pqqptspvls prgqtigsaa ggqdgvcldl liclfwntcm wevessdtsy idyvyrdpes
      541 lktflmplyi gepfpifisf lqksk
//
LOCUS       XP_054234344            1328 aa            linear   PRI 20-MAR-2023
DEFINITION  Fanconi anemia group I protein isoform X1 [Homo sapiens].
ACCESSION   XP_054234344
VERSION     XP_054234344.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378369.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1328
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1328
                     /product="Fanconi anemia group I protein isoform X1"
                     /calculated_mol_wt=149193
     CDS             1..1328
                     /gene="FANCI"
                     /gene_synonym="KIAA1794"
                     /coded_by="XM_054378369.1:145..4131"
                     /db_xref="GeneID:55215"
                     /db_xref="HGNC:HGNC:25568"
                     /db_xref="MIM:611360"
ORIGIN      
        1 mdqkilslaa ektadklqef lqtlregdlt nllqnqavkg kvagallrai fkgspcseea
       61 gtlrrrkiyt cciqlvesgd lqkeiaseii gllmleahhf pgpllvelan efisavregs
      121 lvngkslell piiltalatk kenlaygkgv lsgeeckkql intlcsgrwd qqyviqltsm
      181 fkdvpltaee vefvvekals mfskmnlqei pplvyqllvl sskgsrksvl egiiaffsal
      241 dkqhneeqsg delldvvtvp sgelrhvegt iilhivfaik ldyelgrelv khlkvgqqgd
      301 snnnlspfsi alllsvtriq rfqdqvldll ktsvvksfkd lqllqgskfl qnlvphrsyv
      361 stmilevvkn svhswdhvtq glvelgfilm dsygpkkvld gktietspsl srmpnqhack
      421 lganilletf kihemirqei leqvlnrvvt rasspishfl dllsnivmya plvlqscssk
      481 vteafdylsf lplqtvqrll kavqpllkvs msmrdclilv lrkamfanql darksavagf
      541 llllknfkvl gslsssqcsq slsvsqvhvd vhshynsvan etfcleimds lrrclsqqad
      601 vrlmlyegfy dvlrrnsqla nsvmqtllsq lkqfyepkpd llpplkleac iltqgdkisl
      661 qepldyllcc iqhclawykn tviplqqgee eeeeeeafye dlddilesit nrmikseled
      721 feldksadfs qstsigiknn icaflvmgvc evlieynfsi ssfsknrfed ilslfmcykk
      781 lsdilnekag kaktkmankt sdsllsmkfv sslltalfrd siqshqesls vlrssnefmr
      841 yavnvalqkv qqlketghvs gpdgqnpeki fqnlcditrv llwrytsipt sveesgkkek
      901 gksisllcle glqkifsavq qfyqpkiqqf lraldvtdke geeredadvs vtqrtafqir
      961 qfqrsllnll ssqeedfnsk ealllvtvlt slskllepss pqfvqmlswt skickensre
     1021 dalfckslmn llfslhvsyk spvillrdls qdihghlgdi dqdvevektn hfaivnlrta
     1081 aptvcllvls qaekvleevd wlitklkgqv sqetlseeas sqatlpnqpv ekaiimqlgt
     1141 lltffhelvq talpsgscvd tllkdlckmy ttltalvryy lqvcqssggi pknmeklvkl
     1201 sgshltplcy sfisyvqnks kslnytgekk ekpaavatam arvlretkpi pnlifaieqy
     1261 ekflihlskk skvnlmqhmk lstsrdfkik gnildmvlre dgedeneegt asehggqnke
     1321 pakkkrkk
//
LOCUS       XP_054234459             226 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA-uridine aminocarboxypropyltransferase 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054234459
VERSION     XP_054234459.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378484.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..226
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..226
                     /product="tRNA-uridine aminocarboxypropyltransferase 1
                     isoform X2"
                     /calculated_mol_wt=25813
     CDS             1..226
                     /gene="DTWD1"
                     /gene_synonym="MDS009"
                     /coded_by="XM_054378484.1:259..939"
                     /db_xref="GeneID:56986"
                     /db_xref="HGNC:HGNC:30926"
ORIGIN      
        1 mslnppiflk rseensskfv etkqsqttsi asedplqnlc lasqevlqka qqsgrskclk
       61 cggsrmfycy tcyvpvenvp ieqiplvklp lkidiikhpn etdgkstaih akllapefvn
      121 iytypcipey eekdhevali fpgpqsisik disfhlqkri qnnvrgkndd pdkpsfkrkr
      181 teeqefcdln dskckgttlk kiifidstwn qtnkiftder lqekek
//
LOCUS       XP_054235309             793 aa            linear   PRI 20-MAR-2023
DEFINITION  cadherin-5 isoform X1 [Homo sapiens].
ACCESSION   XP_054235309
VERSION     XP_054235309.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379334.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..793
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..793
                     /product="cadherin-5 isoform X1"
                     /calculated_mol_wt=88303
     CDS             1..793
                     /gene="CDH5"
                     /gene_synonym="7B4; CD144"
                     /coded_by="XM_054379334.1:161..2542"
                     /db_xref="GeneID:1003"
                     /db_xref="HGNC:HGNC:1764"
                     /db_xref="MIM:601120"
ORIGIN      
        1 mqrlmmllat sgaclgllav aavaaaganp aqrdthsllp thrrqkrdwi wnqmhideek
       61 ntslphhvgk ikssvsrkna kyllkgeyvg kvfrvdaetg dvfaierldr eniseyhlta
      121 vivdkdtgen letpssftik vhdvndnwpv fthrlfnasv pessavgtsv isvtavdadd
      181 ptvgdhasvm yqilkgkeyf aidnsgriit itksldrekq aryeivvear daqglrgdsg
      241 tatvlvtlqd indnfpfftq tlwgalfasa kytfvvpedt rvgtsvgslf vedpdepqnr
      301 mtkysilrgd yqdaftietn pahnegiikp mkpldyeyiq qysfiveatd ptidlrymsp
      361 pagnraqvii nitdvdeppi fqqpfyhfql kenqkkplig tvlamdpdaa rhsigysirr
      421 tsdkgqffrv tkkgdiynek eldrevypwy nltveakeld stgtptgkes ivqvhievld
      481 endnapefak pyqpkvcena vhgqlvlqis aidkditprn vkfkftlnte nnftltdnhd
      541 ntanitvkyg qfdrehtkvh flpvvisdng mpsrtgtstl tvavckcneq geftfcedma
      601 aqvgvsiqav vaillcilti tvitlliflr rrlrkqarah gksvpeiheq lvtydeeggg
      661 emdttsydvs vlnsvrrgga kpprpaldar pslyaqvqkp prhapgahgg pgemaamiev
      721 kkdeadhdgd gppydtlhiy gyegsesiae slsslgtdss dsdvdydfln dwgprfkmla
      781 elygsdpree lly
//
LOCUS       XP_054235589             135 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 170A isoform X1 [Homo sapiens].
ACCESSION   XP_054235589
VERSION     XP_054235589.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379614.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..135
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..135
                     /product="transmembrane protein 170A isoform X1"
                     /calculated_mol_wt=14679
     CDS             1..135
                     /gene="TMEM170A"
                     /gene_synonym="TMEM170"
                     /coded_by="XM_054379614.1:195..602"
                     /db_xref="GeneID:124491"
                     /db_xref="HGNC:HGNC:29577"
ORIGIN      
        1 mqraaaatar rrsadtwdlq cyvprdfpgr dcevaemwyg vflwalvssl ffhvpaglla
       61 lftlrhhkyg rfisvsillm givgpitagi ltsaaiagvy raagkemipf ealtlgtgqt
      121 fcvlvvsflr ilatl
//
LOCUS       XP_054236411             132 aa            linear   PRI 20-MAR-2023
DEFINITION  charged multivesicular body protein 1a isoform X2 [Homo sapiens].
ACCESSION   XP_054236411
VERSION     XP_054236411.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380436.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..132
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..132
                     /product="charged multivesicular body protein 1a isoform
                     X2"
                     /calculated_mol_wt=14182
     CDS             1..132
                     /gene="CHMP1A"
                     /gene_synonym="CHMP1; PCH8; PCOLN3; PRSM1; VPS46-1;
                     VPS46A"
                     /coded_by="XM_054380436.1:346..744"
                     /db_xref="GeneID:5119"
                     /db_xref="HGNC:HGNC:8740"
                     /db_xref="MIM:164010"
ORIGIN      
        1 masrvdavas kvqtavtmkg vtknmaqvtk aldkalstmd lqkvssvmdr feqqvqnldv
       61 htsvmedsms sattlttpqe qvdslimqia eenglevldq lsqlpegasa vgessvrsqe
      121 dqlsrrlaal rn
//
LOCUS       XP_054170581             390 aa            linear   PRI 20-MAR-2023
DEFINITION  battenin isoform X3 [Homo sapiens].
ACCESSION   XP_054170581
VERSION     XP_054170581.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314606.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..390
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..390
                     /product="battenin isoform X3"
                     /calculated_mol_wt=43370
     CDS             1..390
                     /gene="CLN3"
                     /coded_by="XM_054314606.1:132..1304"
                     /db_xref="GeneID:1201"
                     /db_xref="HGNC:HGNC:2074"
                     /db_xref="MIM:607042"
ORIGIN      
        1 mggcagsrrr fsdsegeysr ppswndhlwl aahlrgmrad sapggharsg rapesrwgsc
       61 pllalpgeet vpeprlplld hqgahwknav gfwllglcnn fsyvvmlsaa hdilshkrts
      121 gnqshvdpgp tpiphnsssr fdcnsvstap pgsrqwdlcc wklrpgclfs fcgdqpvcyf
      181 llltspeaqd pggeeeaesa arqplirtea peskpgssss lslrerwtvf kgllwyivpl
      241 vvvyfaeyfi nqglfellff wntslshaqq yrwyqmlyqa gvfasrsslr ccrirftwal
      301 allqclnlvf lladvwfgfl psiylvflii lyegllggaa yvntfhnial etsdehrefa
      361 maatcisdtl gislsgllal plhdflcqls
//
LOCUS       XP_054172871             415 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA-dihydrouridine(16/17) synthase [NAD(P)(+)]-like isoform X9
            [Homo sapiens].
ACCESSION   XP_054172871
VERSION     XP_054172871.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316896.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..415
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..415
                     /product="tRNA-dihydrouridine(16/17) synthase
                     [NAD(P)(+)]-like isoform X9"
                     /calculated_mol_wt=44152
     CDS             1..415
                     /gene="DUS1L"
                     /gene_synonym="DUS1; PP3111"
                     /coded_by="XM_054316896.1:11..1258"
                     /db_xref="GeneID:64118"
                     /db_xref="HGNC:HGNC:30086"
ORIGIN      
        1 mpklqgfefw srtlrgarhv vapmvdqsel awrllsrrhg aqlcytpmlh aqvfvrdany
       61 rkenlycevc pedrplivqf candpevfvq aallaqdycd aidlnlgcpq miakrghyga
      121 flqdewdllq rmillahekl svpvtckirv fpeidktvry aqmlekagcq lltvhgrtke
      181 qkgplsgaas wehikavrka vaipvfangn iqclqdverc lrdtgvqgvm saggqgpgqq
      241 pgphahglip pprgqpaqpr pvrgpepcrv gagrgvsghr agaplppvlr pgpplqavap
      301 haagapgaar gagqgedpgg hrccepgaea avsggdiqag gseahrrlal pldlpalhpa
      361 gaqggeqgeg rcaqqagpgg rggwhggpvq eqakeaaeep pqdlrplsea kickv
//
LOCUS       XP_054173617             270 aa            linear   PRI 20-MAR-2023
DEFINITION  src kinase-associated phosphoprotein 1 isoform X10 [Homo sapiens].
ACCESSION   XP_054173617
VERSION     XP_054173617.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317642.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..270
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..270
                     /product="src kinase-associated phosphoprotein 1 isoform
                     X10"
                     /calculated_mol_wt=31298
     CDS             1..270
                     /gene="SKAP1"
                     /gene_synonym="HEL-S-81p; SCAP1; SKAP55"
                     /coded_by="XM_054317642.1:520..1332"
                     /db_xref="GeneID:8631"
                     /db_xref="HGNC:HGNC:15605"
                     /db_xref="MIM:604969"
ORIGIN      
        1 mklegmediv kgaqeldnvi kqgylekksk dhsffgsewq krwcvvsrgl fyyyaneksk
       61 qpkgtflikg ysvrmaphlr rdskkescfe ltsqdrrsye ftatspaear dwvdqisfll
      121 kdlssltipy eedeeeeeke etyddidgfd spscgsqcrp tilpgsvgik epteekeeed
      181 iyevlpdeeh dleedesgtr rkgvdyasyy qglwdchgdq pdelsfqrgd lirilskeyn
      241 mygwwvgeln slvgivpkey lttafeveer
//
LOCUS       XP_054174949            2691 aa            linear   PRI 20-MAR-2023
DEFINITION  piezo-type mechanosensitive ion channel component 2 isoform X6
            [Homo sapiens].
ACCESSION   XP_054174949
VERSION     XP_054174949.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318974.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2691
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2691
                     /product="piezo-type mechanosensitive ion channel
                     component 2 isoform X6"
                     /calculated_mol_wt=310680
     CDS             1..2691
                     /gene="PIEZO2"
                     /gene_synonym="C18orf30; C18orf58; DA3; DA5; DAIPT;
                     FAM38B; FAM38B2; HsT748; HsT771; MWKS"
                     /coded_by="XM_054318974.1:982..9057"
                     /db_xref="GeneID:63895"
                     /db_xref="HGNC:HGNC:26270"
                     /db_xref="MIM:613629"
ORIGIN      
        1 masevvcgli frlllpicla vacafryngl sfvyliylll iplfseptkt tmqghtgrll
       61 kslcfislsf lllhiifhit lvsleaqhri apgyncstwe ktfrqigfes lkgadagngi
      121 rvfvpdigmf iasltiwllc rnivqkpvtd eaaqsnpefe neelaegeki dseealiyee
      181 dfnggdgveg eleestklkm frrlasvask lkefignmit tagkvvvtil lgssgmmlps
      241 ltssvyffvf lglctwwswc rtfdpllfsc lcvllaifta ghliglylyq fqffqeavpp
      301 ndyyarlfgi ksviqtdcss twkiivnpdl swyhhanpil llvmyytlat liriwlqepl
      361 vqdegtkeed kalacspiqi tagrrrslwy athyptderk llsmtqddyk psdgllvtvn
      421 gnpvdyhtih pslpmengpg kadlystpqy rwepsdesse kreeeeeeke efeeersree
      481 krsikvhamv svfqfimkqs yicaliamma wsityhswlt fvlliwsctl wmirnrrkya
      541 misspfmvvy gnlllilqyi wsfelpeikk vpgflekkep gelaskilft itfwlllrqh
      601 lteqkalqek eallsevkig sqeneekdee lqdiqvegep keeeeeeake ekqerkkveq
      661 eeaeeedeqd imkvlgnlvv amfikywiyv cggmfffvsf egkivmykii ymvlflfcva
      721 lyqvhyewwr kilkyfwmsv viytmlvlif iytyqfenfp glwqnmtglk kekledlglk
      781 qftvaelftr ifiptsfllv cilhlhyfhd rfleltdlks ipskedntiy rlahpegslp
      841 dltmmhltas lekpevrkla epgeeklegy sekaqkgdlg kdseeseedg eeeeeseeee
      901 etsdlrnkwh lvidrltvlf lkfleyfhkl qvfmwwilel hiikivssyi iwvsvkevsl
      961 fnyvfliswa falpyaklrr lassvctvwt cviivckmly qlqtikpenf svncslpnen
     1021 qtnipfneln ksllysapid ptewvglrks spllvylrnn llmlailafe vtiyrhqeyy
     1081 rgrnnltapv srtifhditr lhlddglinc akyfinyffy kfgletcflm svnvigqrmd
     1141 fyamihacwl iavlyrrrrk aiaeiwpkyc cflaciitfq yficigippa pcrdypwrfk
     1201 gasfndniik wlyfpdfivr pnpvflvydf mlllcaslqr qifedenkaa vrimagdnve
     1261 icmnldaasf sqhnpvpdfi hcrsyldmsk viifsylfwf vltiifitgt trisifcmgy
     1321 lvacfyfllf ggdlllkpik silrywdwli aynvfvitmk nilsigacgy igtlvhnscw
     1381 liqafslact vkgyqmpaan spctlpsgea giiwdsicfa flllqrrvfm syyflhvvad
     1441 ikasqilasr gaelfqativ kavkarieee kksmdqlkrq mdrikarqqk ykkgkermls
     1501 ltqepgegqd mqklseedde readkqkakg kkkqwwrpwv dhasmvrsgd yylfetdsee
     1561 eeeeelkked eepprrsafq fvyqawitdp ktalrqrhke kkrsareerk rrrkgskegp
     1621 vewedredep ikkksdgpdn iikrifnilk ftwvlflatv dsfttwlnsi srehidistv
     1681 lriercmltr eikkgnvptr esihmyyqnh imnlsresgl dtidehpgaa sgaqtahrmd
     1741 sldshdsiss eptqctmlys rqgttetiee veaeqeeeag stapepreak eyeatgydvg
     1801 amgaeeaslt peeeltqfst ldgdveapps yskavsfehl sfgsqddsag knrmavspdd
     1861 srtdklgssi lpplthelta selllkkmfh ddeleesekf yvgqprflll fyamyntlva
     1921 rsemvcyfvi ilnhmvsasm itlllpilif lwamlsvprp srrfwmmaiv ytechglwde
     1981 ddmtesgmar eesddelslg hgrrdssdsl ksinlaasve svhvtfpeqq tavrrkrsgs
     2041 ssepsqrssf ssnrsqrgst strnssqkgs svlsikqkgk relymeklqe hlikakafti
     2101 kktleiyvpi kqffynlihp eysavtdvyv lmfladtvdf iiivfgfwaf gkhsaaadit
     2161 sslsedqvpg pflvmvliqf gtmvvdraly lrktvlgkvi fqvilvfgih fwmffilpgv
     2221 terkfsqnlv aqlwyfvkcv yfglsayqir cgyptrvlgn fltksynyvn lflfqgfrlv
     2281 pfltelravm dwvwtdttls lsswicvedi yahifilkcw resekrypqp rgqkkkkvvk
     2341 ygmggmiivl licivwfpll fmsliksvag vinqpldvsv titlggyqpi ftmsaqqsql
     2401 kvmdqqsfnk fiqafsrdtg amqflenyek editvaeleg nsnslwtisp pskqkmihel
     2461 ldpnssfsvv fswsiqrnls lgakseiatd klsfplknit rkniakmiag nstessktpv
     2521 tiekiypyyv kapsdsnskp ikqllsennf mditiilsrd nttkynseww vlnltgnriy
     2581 npnsqalelv vfndkvspps lgflagygim glyasvvlvi gkfvreffsg ishsimfeel
     2641 pnvdrilklc tdiflvretg eleleedlya kliflyrspe tmikwtrekt n
//
LOCUS       XP_054178366             411 aa            linear   PRI 20-MAR-2023
DEFINITION  transcriptional enhancer factor TEF-4 isoform X9 [Homo sapiens].
ACCESSION   XP_054178366
VERSION     XP_054178366.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322391.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..411
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..411
                     /product="transcriptional enhancer factor TEF-4 isoform
                     X9"
                     /calculated_mol_wt=45395
     CDS             1..411
                     /gene="TEAD2"
                     /gene_synonym="ETF; TEAD-2; TEF-4; TEF4"
                     /coded_by="XM_054322391.1:91..1326"
                     /db_xref="GeneID:8463"
                     /db_xref="HGNC:HGNC:11715"
                     /db_xref="MIM:601729"
ORIGIN      
        1 mgepragaal ddgsgwtgse egseegtggs egaggdggpd aegvwspdie qsfqealaiy
       61 ppcgrrkiil sdegkmygrn eliaryiklr tgktrtrkqv sshiqvlarr ksreiqsklk
      121 aselfqfwsg gsgppwnvpd vkpfsqtpft lsltppstdl pgyeppqals plppptpspp
      181 awqarglgta rlqlvefsaf veppdavdsy qrhlfvhisq hcpspgappl esvdvrqiyd
      241 kfpekkgglr elydrgppha fflvkfwadl nwgpsgeeag aggsissggf ygvssqyesl
      301 ehmtltcssk vcsfgkqvve kveteraqle dgrfvyrllr spmceylvnf lhklrqlper
      361 ymmnsvlenf tilqvvtnrd tqelllctay vfevstserg aqhhiyrlvr d
//
LOCUS       XP_054182111             534 aa            linear   PRI 20-MAR-2023
DEFINITION  xylosyl- and glucuronyltransferase LARGE1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054182111
VERSION     XP_054182111.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326136.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..534
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..534
                     /product="xylosyl- and glucuronyltransferase LARGE1
                     isoform X3"
                     /calculated_mol_wt=63078
     CDS             1..534
                     /gene="LARGE1"
                     /gene_synonym="LARGE; MDC1D; MDDGA6; MDDGB6"
                     /coded_by="XM_054326136.1:6859..8463"
                     /db_xref="GeneID:9215"
                     /db_xref="HGNC:HGNC:6511"
                     /db_xref="MIM:603590"
ORIGIN      
        1 mklvltktlp anlervivld tditfatdia elwavfhkfk gqqvlglven qsdwylgnlw
       61 knhrpwpalg rgyntgvill lldklrkmkw eqmwrltaer elmgmlstsl adqdifnavi
      121 kqnpflvyql pcfwnvqlsd htrseqcyrd vsdlkvihwn spkklrvknk hveffrnlyl
      181 tfleydgnll rrelfgcpse advnsenlqk qlseldeddl cyefrrerft vhrthlyflh
      241 yeyepaadst dvtlvaqlsm drlqmleaic khwegpisla lylsdaeaqq flryaqgsev
      301 lmsrhnvgyh ivykegqfyp vnllrnvamk histpymfls didflpmygl yeylrksviq
      361 ldlantkkam ivpafetlry rlsfpkskae llsmldmgtl ftfryhvwtk ghaptnfakw
      421 rtattpyrve weadfepyvv vrrdcpeydr rfvgfgwnkv ahimeldvqe yefivlpnay
      481 mihmphapsf ditkfrsnkq yriclktlke efqqdmsrry gfaalkylta enns
//
LOCUS       XP_047303006             157 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein UNQ6126/PRO20091 [Homo sapiens].
ACCESSION   XP_047303006
VERSION     XP_047303006.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047447050.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..157
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..157
                     /product="uncharacterized protein UNQ6126/PRO20091"
                     /calculated_mol_wt=16752
     CDS             1..157
                     /gene="LOC124905139"
                     /coded_by="XM_047447050.1:1..474"
                     /db_xref="GeneID:124905139"
ORIGIN      
        1 mlpeqgpqps tmplwcllaa ctslprqaat mleeaaspne avhastsgsg altdqtftdl
       61 saaeasseev pdfmevphsv hhkincffyl ekqlcqlpsp lclsslltlk lkttvpapgr
      121 wwsfqphkaf pllvgtpgsw qstidpawaa psqpspg
//
LOCUS       XP_054201529             883 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ECT2 isoform X8 [Homo sapiens].
ACCESSION   XP_054201529
VERSION     XP_054201529.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345554.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..883
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..883
                     /product="protein ECT2 isoform X8"
                     /calculated_mol_wt=99920
     CDS             1..883
                     /gene="ECT2"
                     /gene_synonym="ARHGEF31"
                     /coded_by="XM_054345554.1:138..2789"
                     /db_xref="GeneID:1894"
                     /db_xref="HGNC:HGNC:3155"
                     /db_xref="MIM:600586"
ORIGIN      
        1 maensvltst tgrtsladss ifdskvteis kenlligsts yveeempqie trvilvqeag
       61 kqeelikalk dikvgfvkme sveefeglds pefenvfvvt dfqdsvfndl ykadcrvigp
      121 pvvlncsqkg eplpfscrpl yctsmmnlvl cftgfrkkee lvrlvtlvhh mggvirkdfn
      181 skvthlvanc tqgekfrvav slgtpimkpe wiykawerrn eqdfyaavdd frnefkvppf
      241 qdcilsflgf sdeektnmee mtemqggkyl plgdercthl vveenivkdl pfepskklyv
      301 vkqewfwgsi qmdaragetm ylyekantpe lkksvsmlsl ntpnsnrkrr rlketlaqls
      361 retdvspfpp rkrpsaehsl sigslldisn tpessinygd tpksctkssk sstpvpskqs
      421 arwqvakely qtesnyvnil atiiqlfqvp leeegqrggp ilapeeikti fgsipdifdv
      481 htkikddled livnwdesks igdiflkysk dlvktyppfv nffemsketi ikcekqkprf
      541 haflkinqak pecgrqslve llirpvqrlp svalllndlk khtadenpdk stlekaigsl
      601 kevmthined krkteaqkqi fdvvyevdgc panllsshrs lvqrvetisl gehpcdrgeq
      661 vtlflfndcl eiarkrhkvi gtfrsphgqt rppaslkhih lmplsqikkv ldiretedch
      721 nafallvrpp teqanvllsf qmtsdelpke nwlkmlcrhv antickadae nliytadpes
      781 fevntkdmds tlsrasraik ktskkvtraf sfsktpkral rralmtshgs vegrspssnd
      841 khvmsrlsst sslagipsps lvslpsffer rshtlsrstt hli
//
LOCUS       XP_054205687             636 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Dok-7 isoform X1 [Homo sapiens].
ACCESSION   XP_054205687
VERSION     XP_054205687.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349712.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..636
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..636
                     /product="protein Dok-7 isoform X1"
                     /calculated_mol_wt=66739
     CDS             1..636
                     /gene="DOK7"
                     /gene_synonym="C4orf25; CMS10; CMS1B; FADS3"
                     /coded_by="XM_054349712.1:71..1981"
                     /db_xref="GeneID:285489"
                     /db_xref="HGNC:HGNC:26594"
                     /db_xref="MIM:610285"
ORIGIN      
        1 mteaalvegq vklrdgkkwk srwlvlrkps pvadcllmlv ykdkserikg lrerssltle
       61 dicglepglp yeglvhtlai vclsqaimlg fdsheamcaw dariryalge vhrfhvtvap
      121 gtklesgpat lhlcndvlvl ardippavtg qwklsdlrry gavpsgfife ggtrcgywag
      181 vfflssaege qisflfdciv rgisptkgpf glrpvlpdps ppgpstveer vaqealetlq
      241 lekrlsllsh agrpgsggdd rslsssssea shldvsassr ltawpeqsss sastsregpr
      301 paaaqaagea mvgasrpppk plrprqlqev grqsssdsgi atgshssyss slssyagssl
      361 dvwratdelg sllslpaaga pepslctclp gtveyqvpts lrahydtprs lclaprdhsp
      421 psqgspgnsa ardsggqtsa gcpsgwlgtr rrglvmeapq gseatlpgpa pgepweaggp
      481 hagpppaffs acpvcgglkg aaasapgpat ahsvrphaps cfhphpsppt lgsklgrtda
      541 ilkrgtrlqg gvqphrgqap alplgfkapf pdarprrsls spqaltppas pttpswpsps
      601 amppplgswp cwpcpcwprc lpghenlaam fcgssr
//
LOCUS       XP_054205866             758 aa            linear   PRI 20-MAR-2023
DEFINITION  amyloid beta precursor protein binding family B member 2 isoform X4
            [Homo sapiens].
ACCESSION   XP_054205866
VERSION     XP_054205866.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349891.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..758
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..758
                     /product="amyloid beta precursor protein binding family B
                     member 2 isoform X4"
                     /calculated_mol_wt=83215
     CDS             1..758
                     /gene="APBB2"
                     /gene_synonym="FE65L; FE65L1"
                     /coded_by="XM_054349891.1:399..2675"
                     /db_xref="GeneID:323"
                     /db_xref="HGNC:HGNC:582"
                     /db_xref="MIM:602710"
ORIGIN      
        1 msevlpadsg vdtlavfmas sgttdvtnrn spatppntln lrsshnelln aeikhtetkn
       61 stppkcrkky altniqaamg lsdpaaqpll gngsaniklv kngenqlrka aeqgqqdpnk
      121 nlsptavini tseklegkep hpqdssscei lpsqprrtks flnyyadlet sareleqnqg
      181 nhhgtaeeks qpvqgqasti igngdlllqk pnrpqssped gqvatvsssp etkkdhpktg
      241 aktdcalhri qnlapsdees swttlsqdsa spsspdetdi wsdhsfqtdp dlppgwkrvs
      301 diagtyywhi ptgttqwerp vsipadlqgs rkgslssvtp sptpenekqp wsdfavlngg
      361 kinsdiwkdl haatvnpdps lkefegatlr yaslklrnap hpddddscsi nsdpeakcfa
      421 vrslgwvema eedlapgkss vavnncirql syckndirdt vgiwgegkdm ylilendmls
      481 lvdpmdrsvl hsqpivsirv wgvgrdngrd fayvardkdt rilkchvfrc dtpakaiats
      541 lheicskima erknakalac sslqeranvn ldvplqvdfp tpktelvqkf hvqylgmlpv
      601 dkpvgmdiln saienlmtss nkedwlsvnm nvadatvtvi sekneeevlv ecrvrflsfm
      661 gvgkdvhtfa fimdtgnqrf echvfwcepn agnvseavqa acmlryqkcl varppsqkvr
      721 pppppadsvt rrvttnvkrg vlslidtlkq krpvtemp
//
LOCUS       XP_054205962             894 aa            linear   PRI 20-MAR-2023
DEFINITION  death domain-containing protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054205962
VERSION     XP_054205962.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349987.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..894
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..894
                     /product="death domain-containing protein 1 isoform X2"
                     /calculated_mol_wt=101107
     CDS             1..894
                     /gene="DTHD1"
                     /coded_by="XM_054349987.1:144..2828"
                     /db_xref="GeneID:401124"
                     /db_xref="HGNC:HGNC:37261"
                     /db_xref="MIM:616979"
ORIGIN      
        1 mdmeymgsgk lgqilkqiwr qnqmlkqall gddlcegagg atwmatvvfl gqelssalhq
       61 llehtsgtlr stcqqlhvll dkenqcvsrk eiitfidcli kitehlgsta allkkeekei
      121 cnlcgmhdec tpqqtmssiq dtkaadiaar gelnvietat vsptngeesh ytnqvqlekn
      181 kthmssalve kenntslngr vlgqeesqnk mfpdnaened dkqiehmtve ningnreeth
      241 giiqttetei qetsespree mttssiicdi skkyinstlp ndsenikhkn nimekeyldv
      301 lsddtgpqvs cyitapsyvl qqlecriinh msslivgdne elvsnvitie csdkekrvpf
      361 pigiaipfta ryrgnyrdim vkvcdinlqs sylnpnsleg mkggykkesf tvtkkglalk
      421 ssmdsrisln yppgvftspv lvqlkiqpvd palvahlkaq qdtfysvqst splihiqhps
      481 typfqkpvtl flpcspyldk nnlgseidhk rrasatinri tpsyfnrkki lwihkrtkia
      541 sirkprknas eclkllgfrs qdsgwcgldd vvktiqsglv svelyehler fivlhlsstm
      601 dnshlvtfvk sleeamlstt acivlshqkd nphriavlvv pskdlsqvlk dlhlegfggp
      661 pepsrhfqvr egeqlllrft gnifassngk dygkdytlif hlqrkprlel qikevdefgn
      721 yscphykgti vvykvpkgki vpnlnqslvi nenhsqlpic klplklpkhk klinrpqstk
      781 rvskdpveal wdnllhwlae elseenaesl sstlplrrst iqliklknpd dlteqihefl
      841 cfwkkslptf tdklrllarh lrkigrsdla eelkfkwenk vftepqqcfd vape
//
LOCUS       XP_054206545             269 aa            linear   PRI 20-MAR-2023
DEFINITION  RING finger protein 150 isoform X5 [Homo sapiens].
ACCESSION   XP_054206545
VERSION     XP_054206545.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350570.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..269
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..269
                     /product="RING finger protein 150 isoform X5"
                     /calculated_mol_wt=29777
     CDS             1..269
                     /gene="RNF150"
                     /coded_by="XM_054350570.1:46..855"
                     /db_xref="GeneID:57484"
                     /db_xref="HGNC:HGNC:23138"
ORIGIN      
        1 mipepkgkei vsllernitv tmyitigtrn lqkyvsrtsv vfvsisfivl miislawlvf
       61 yyiqrfryan ardrnqrrlg daakkaiskl qirtikkgdk etesdfdnca vciegykpnd
      121 vvrilpcrhl fhkscvdpwl ldhrtcpmck mnilkalgip pnadcmddlp tdfegslggp
      181 ptnqitgasd ttvnessvtl dpavrtvgal qvvqdtdpip qegdvifttn seqepavssd
      241 sdislimame vglsdvelst dqdceevks
//
LOCUS       XP_054209670             777 aa            linear   PRI 20-MAR-2023
DEFINITION  ribosome-releasing factor 2, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_054209670
VERSION     XP_054209670.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353695.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..777
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..777
                     /product="ribosome-releasing factor 2, mitochondrial
                     isoform X1"
                     /calculated_mol_wt=86155
     CDS             1..777
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /coded_by="XM_054353695.1:671..3004"
                     /db_xref="GeneID:84340"
                     /db_xref="HGNC:HGNC:29682"
                     /db_xref="MIM:606544"
ORIGIN      
        1 mltnlrifam shqtipsvyi nniccykira slkrlkphvp lgrncsslpg ligndikslh
       61 siisppiaki rnigimahid agktttteri lyysgytrsl gdvddgdtvt dfmaqererg
      121 itiqsaavtf dwkgyrvnli dtpghvdftl everclrvld gavavfdasa gveaqtltvw
      181 rqadkhnipr icflnkmdkt gasfkyaves ireklkakpl llqlpigeak tfkgvvdvvm
      241 kekllwncns ndgkdferkp llemndpell kettearnal ieqvadldde fadlvleefc
      301 enfdllpaek lqtaihrvtl aqtavpvlcg salknkgiqp lldavtmylp speernyefl
      361 qwykddlcal afkvlhdkqr gplvfmriys gtikpqlaih ningncteri srlllpfadq
      421 hveipsltag nialtvglkh tatgdtivss kssalaaarr aeregekkhr qnneaerlll
      481 agveipepvf fctieppsls kqpdlehalk clqredpslk vrldpdsgqt vlcgmgelhi
      541 eiihdrikre ygletylgpl qvayretiln svratdtldr tlgdkrhlvt vevearpiet
      601 ssvmpvieya esinegllkv sqeaiengih saclqgpllg spiqdvaitl hsltihpgts
      661 ttmisacvsr cvqkalkkad kqvleplmnl evtvardyls pvladlaqrr gniqeiqtrq
      721 dnkvvigfvp laeimgystv lrtltsgsat falelstyqa mnpqdqntll nqrsglt
//
LOCUS       XP_054213684             509 aa            linear   PRI 20-MAR-2023
DEFINITION  adenosylhomocysteinase 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054213684
VERSION     XP_054213684.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357709.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 22% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..509
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..509
                     /product="adenosylhomocysteinase 3 isoform X2"
                     /calculated_mol_wt=56941
     CDS             1..509
                     /gene="AHCYL2"
                     /gene_synonym="ADOHCYASE3; IRBIT2"
                     /coded_by="XM_054357709.1:711..2240"
                     /db_xref="GeneID:23382"
                     /db_xref="HGNC:HGNC:22204"
                     /db_xref="MIM:616520"
ORIGIN      
        1 mekwdgnegt safhmpewmq iqfadqkqef nkrptkigrr slsrsisqss tdsyssaasy
       61 tdssddetsp rdkqqknskg ssdfcvknik qaefgrreie iaeqempalm alrkraqgek
      121 plagakivgc thitaqtavl metlgalgaq crwaacniys tlnevaaala esgfpvfawk
      181 geseddfwwc idrcvnvegw qpnmilddgg dlthwiykky pnmfkkikgi veesvtgvhr
      241 lyqlskagkl cvpamnvnds vtkqkfdnly ccresildgl krttdmmfgg kqvvvcgyge
      301 vgkgccaalk amgsivyvte idpicalqac mdgfrlvkln evirqvdivi tctgnknvvt
      361 rehldrmkns civcnmghsn teidvaslrt peltwervrs qvdhviwpdg krivllaegr
      421 llnlscstvp tfvlsitatt qalalielyn apegrykqdv yllpkkmdey vaslhlptfd
      481 ahlteltdeq akylglnkng pfkpnyyry
//
LOCUS       XP_047300964             224 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124906620 isoform X1 [Homo sapiens].
ACCESSION   XP_047300964
VERSION     XP_047300964.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047445008.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..224
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..224
                     /product="uncharacterized protein LOC124906620 isoform X1"
                     /calculated_mol_wt=23951
     CDS             1..224
                     /gene="LOC124906620"
                     /coded_by="XM_047445008.1:772..1446"
                     /db_xref="GeneID:124906620"
ORIGIN      
        1 mktsegsrql gnsegrskqp sgpaqqplre hgegrwkglr tspaslgrsc sswtekrgss
       61 spanltrapr kqkkptfflv tpqhppfpsg slpcskhpql pgdsawttad hrradtrarl
      121 qaelcpsvlq slslhnedvv ctshggcred egrglgshlh sfcplqvgyv lllpslafll
      181 pdahpplqpg kltvpcarli qkpspppals mgsptssqas empl
//
LOCUS       XP_054219304            1422 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine nucleotide exchange factor subunit RIC1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054219304
VERSION     XP_054219304.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363329.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1422
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1422
                     /product="guanine nucleotide exchange factor subunit RIC1
                     isoform X1"
                     /calculated_mol_wt=159072
     CDS             1..1422
                     /gene="RIC1"
                     /gene_synonym="bA207C16.1; CATIFA; CIP150; KIAA1432"
                     /coded_by="XM_054363329.1:204..4472"
                     /db_xref="GeneID:57589"
                     /db_xref="HGNC:HGNC:17686"
                     /db_xref="MIM:610354"
ORIGIN      
        1 myflsgwpkr llcplgspae apfhvqsdpq raffavlaaa rlsiwysrps vlivtykepa
       61 ksstqfgsyk qaewrpdstm iavstangyi lffhitstrg dkylyepvyp kgspqmkgtp
      121 hfkeeqcapa lnlemrkild lqapimslqs vledllvats dgllhlihwe gmtngrkain
      181 lctvpfsvdl qssrgsflgf tdvhirdmey catldgfavv fndgkvgfit pvssrftaeq
      241 lhgvwpqdvv dgtcvavnnk yrlmafgcvs gsvqvytidn stgamllshk leltakqypd
      301 iwnktgavkl mrwspdnsvv ivtweyggls lwsvfgaqli ctlggdfayr sdgtkkdplk
      361 insmswgaeg yhlwvisgfg sqnteiesdl rsvvkqpsil lfqfiksvlt vnpcmsnqeq
      421 vllqgedrly lncgeasqtq nprsssthse hkpsrekspf adgglesqgl stllghrhwh
      481 vvqisstyle snwpirfsai dklgqniavv gkfgfahysl ltkkwklfgn itqeqnmivt
      541 gglawwndfm vlacynindr qeelrvylrt snldnafahv tkaqaetlll svfqdmvivf
      601 radcsiclys ierksdgpnt tagiqvlqev smsryiphpf lvvsvtltsv stengitlkm
      661 pqqargaesi mlnlagqlim mqrdrsgpqi rekdsnpnnq rkllpfcppv vlaqsvenvw
      721 ttcrankqkr hllealwlsc ggagmkvwlp lfprdhrkph sflsqrimlp fhiniyplav
      781 lfedalvlga vndtllydsl ytrnnareql evlfpfcvve rtsqiylhhi lrqllvrnlg
      841 eqalllaqsc atlpyfphvl elmlhevlee eatsrepipd pllptvakfi tefplflqtv
      901 vhcarkteya lwnylfaavg npkdlfeecl maqdldtaas yliilqnmev pavsrqhatl
      961 lfntaleqgk wdlcrhmirf lkaigsgese tppstptaqe psssggfeff rnrsislsqs
     1021 aenvpaskfs lqktlsmpsg psgkrwskds dcaenmyidm mlwrharrll edvrlkdlgc
     1081 faaqlgfeli swlckertra arvdnfvial krlhkdflwp lpiipassis spfkngkyrt
     1141 vgeqllksqs adpflnlemd agisniqrsq swlsnigpth heidtasshg pqmqdaflsp
     1201 lsnkgdecsi gsatdltess smvdgdwtmv denfstlslt qselehisme laskgphksq
     1261 vqlryllhif meagcldwci viglilress iinqilvitq ssevdgemlq niktglhavd
     1321 rwastdcpgy kpflniikpq lqklseitee qvqpdafqpi tmgktpeqts praeesrgss
     1381 shgsipqgev gssnmvsrke edtaqaeeee pfqdgtydcs vs
//
LOCUS       XP_054183725             805 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger X-chromosomal protein isoform X3 [Homo sapiens].
ACCESSION   XP_054183725
VERSION     XP_054183725.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327750.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..805
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..805
                     /product="zinc finger X-chromosomal protein isoform X3"
                     /calculated_mol_wt=90391
     CDS             1..805
                     /gene="ZFX"
                     /gene_synonym="ZNF926"
                     /coded_by="XM_054327750.1:358..2775"
                     /db_xref="GeneID:7543"
                     /db_xref="HGNC:HGNC:12869"
                     /db_xref="MIM:314980"
ORIGIN      
        1 mdedglelqq epnsffdatg adgthmdgdq ivvevqetvf vsdvvdsdit vhnfvpddpd
       61 svviqdvied vviedvqcpd imeeadvset viipeqvlds dvteevslah ctvpddvlas
      121 ditsasmsmp ehvltgdsih vsdvghvghv ghvehvvhds vveaeivtdp lttdvvseev
      181 lvadcaseav idangipvdq qdddkgnced ylmislddag kiehdgssgm tmdteseidp
      241 ckvdgtcpev ikvyifkadp geddlggtvd ivesependh gvelldqnss irvprekmvy
      301 mtvndsqped edlnvaeiad evymevivge edaaaaaaaa avheqqmddn eiktfmpiaw
      361 aaaygnnsdg ienrngtasa llhidesagl grlakqkpkk rrrpdsrqyq taiiigpdgh
      421 pltvypcmic gkkfksrgfl krhmknhpeh lakkkyrctd cdyttnkkis lhnhleshkl
      481 tskaekaiec decgkhfsha galfthkmvh kekgankmhk ckfceyetae qgllnrhlla
      541 vhsknfphic vecgkgfrhp selkkhmrih tgekpyqcqy ceyrsadssn lkthvktkhs
      601 kempfkcdic lltfsdtkev qqhalihqes kthqclhcdh kssnssdlkr hiisvhtkdy
      661 phkcdmcdkg fhrpselkkh vaahkgkkmh qcrhcdfkia dpfvlsrhil svhtkdlpfr
      721 ckrcrkgfrq qselkkhmkt hsgrkvyqce yceysttdas gfkrhvisih tkdyphrcey
      781 ckkgfrrpse knqhimrhhk evglp
//
LOCUS       NP_001138618             444 aa            linear   PRI 26-MAR-2023
DEFINITION  corticotropin-releasing factor receptor 1 isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_001138618
VERSION     NP_001138618.1
DBSOURCE    REFSEQ: accession NM_001145146.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 444)
  AUTHORS   Ersig AL, Young EE, Brown RL and Malecki K.
  TITLE     Genetic Variation, Stress, and Physiological Stress Response in
            Adults With Food Allergy or Celiac Disease
  JOURNAL   Biol Res Nurs 25 (2), 300-309 (2023)
   PUBMED   36280595
  REMARK    GeneRIF: Genetic Variation, Stress, and Physiological Stress
            Response in Adults With Food Allergy or Celiac Disease.
REFERENCE   2  (residues 1 to 444)
  AUTHORS   Wu SV, Yuan PQ, Lai J, Wong K, Chen MC, Ohning GV and Tache Y.
  TITLE     Activation of Type 1 CRH receptor isoforms induces serotonin
            release from human carcinoid BON-1N cells: an enterochromaffin cell
            model
  JOURNAL   Endocrinology 152 (1), 126-137 (2011)
   PUBMED   21123435
  REMARK    GeneRIF: These findings define the expression of enterochromaffin
            cell-specific CRH(1) isoforms and activation of CRH(1)-dependent
            pathways leading to serotonin release and synthesis.
REFERENCE   3  (residues 1 to 444)
  AUTHORS   Hillhouse EW and Grammatopoulos DK.
  TITLE     The molecular mechanisms underlying the regulation of the
            biological activity of corticotropin-releasing hormone receptors:
            implications for physiology and pathophysiology
  JOURNAL   Endocr Rev 27 (3), 260-286 (2006)
   PUBMED   16484629
  REMARK    Review article
REFERENCE   4  (residues 1 to 444)
  AUTHORS   Parham KL, Zervou S, Karteris E, Catalano RD, Old RW and Hillhouse
            EW.
  TITLE     Promoter analysis of human corticotropin-releasing factor (CRF)
            type 1 receptor and regulation by CRF and urocortin
  JOURNAL   Endocrinology 145 (8), 3971-3983 (2004)
   PUBMED   15142984
REFERENCE   5  (residues 1 to 444)
  AUTHORS   Pisarchik A and Slominski AT.
  TITLE     Alternative splicing of CRH-R1 receptors in human and mouse skin:
            identification of new variants and their differential expression
  JOURNAL   FASEB J 15 (14), 2754-2756 (2001)
   PUBMED   11606483
REFERENCE   6  (residues 1 to 444)
  AUTHORS   Grammatopoulos DK, Dai Y, Randeva HS, Levine MA, Karteris E, Easton
            AJ and Hillhouse EW.
  TITLE     A novel spliced variant of the type 1 corticotropin-releasing
            hormone receptor with a deletion in the seventh transmembrane
            domain present in the human pregnant term myometrium and fetal
            membranes
  JOURNAL   Mol Endocrinol 13 (12), 2189-2202 (1999)
   PUBMED   10598591
REFERENCE   7  (residues 1 to 444)
  AUTHORS   McLean M, Bisits A, Davies J, Woods R, Lowry P and Smith R.
  TITLE     A placental clock controlling the length of human pregnancy
  JOURNAL   Nat Med 1 (5), 460-463 (1995)
   PUBMED   7585095
REFERENCE   8  (residues 1 to 444)
  AUTHORS   Ross PC, Kostas CM and Ramabhadran TV.
  TITLE     A variant of the human corticotropin-releasing factor (CRF)
            receptor: cloning, expression and pharmacology
  JOURNAL   Biochem Biophys Res Commun 205 (3), 1836-1842 (1994)
   PUBMED   7811272
REFERENCE   9  (residues 1 to 444)
  AUTHORS   Vita N, Laurent P, Lefort S, Chalon P, Lelias JM, Kaghad M, Le Fur
            G, Caput D and Ferrara P.
  TITLE     Primary structure and functional expression of mouse pituitary and
            human brain corticotrophin releasing factor receptors
  JOURNAL   FEBS Lett 335 (1), 1-5 (1993)
   PUBMED   8243652
REFERENCE   10 (residues 1 to 444)
  AUTHORS   Chen R, Lewis KA, Perrin MH and Vale WW.
  TITLE     Expression cloning of a human corticotropin-releasing-factor
            receptor
  JOURNAL   Proc Natl Acad Sci U S A 90 (19), 8967-8971 (1993)
   PUBMED   7692441
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF488558.1, L23333.1, X72304.1
            and CK299669.1.
            
            Summary: This gene encodes a G-protein coupled receptor that binds
            neuropeptides of the corticotropin releasing hormone family that
            are major regulators of the hypothalamic-pituitary-adrenal pathway.
            The encoded protein is essential for the activation of signal
            transduction pathways that regulate diverse physiological processes
            including stress, reproduction, immune response and obesity.
            Alternative splicing results in multiple transcript variants.
            Naturally-occurring readthrough transcription between this gene and
            upstream GeneID:147081 results in transcripts that encode isoforms
            that share similarity with the products of this gene. [provided by
            RefSeq, Aug 2016].
            
            Transcript Variant: This variant (1b, also known as CRH-R1beta),
            represents the longest transcript and encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: L23333.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968189,
                                           SAMEA1968968 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..444
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..444
                     /product="corticotropin-releasing factor receptor 1
                     isoform 1 precursor"
                     /note="corticotropin-releasing factor type 1 receptor;
                     seven transmembrane helix receptor"
                     /calculated_mol_wt=48340
     sig_peptide     1..23
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2398
     mat_peptide     24..444
                     /product="Corticotropin-releasing factor receptor 1.
                     /id=PRO_0000012814"
                     /note="propagated from UniProtKB/Swiss-Prot (P34998.1)"
                     /calculated_mol_wt=48340
     Site            38
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P34998.1)"
     Region          40..111
                     /region_name="HormR"
                     /note="Domain present in hormone receptors; smart00008"
                     /db_xref="CDD:214468"
     Site            45
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P34998.1)"
     Site            78
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P34998.1)"
     Site            90
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P34998.1)"
     Site            98
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P34998.1)"
     Region          99..108
                     /region_name="Important for peptide agonist binding"
                     /note="propagated from UniProtKB/Swiss-Prot (P34998.1)"
     Site            112..142
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P34998.1)"
     Region          116..409
                     /region_name="7tmB1_CRF-R1"
                     /note="corticotropin-releasing factor receptor 1, member
                     of the class B family of seven-transmembrane G
                     protein-coupled receptors; cd15445"
                     /db_xref="CDD:320561"
     Region          118..143
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320561"
     Site            order(123,127,198,201..202,205,218,225,297..298,300,302,
                     356,359,374,378)
                     /site_type="other"
                     /note="putative polypeptide ligand binding pocket
                     [polypeptide binding]"
                     /db_xref="CDD:320561"
     Site            179..203
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P34998.1)"
     Region          181..203
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320561"
     Site            order(191,232,235..236,239,309,312..313,345,349,352,356)
                     /site_type="other"
                     /note="antagonist binding site [chemical binding]"
                     /db_xref="CDD:320561"
     Region          218..244
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320561"
     Site            219..247
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P34998.1)"
     Site            255..282
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P34998.1)"
     Region          257..277
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320561"
     Region          294..323
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320561"
     Site            299..324
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P34998.1)"
     Region          309..319
                     /region_name="Important for antagonist binding"
                     /note="propagated from UniProtKB/Swiss-Prot (P34998.1)"
     Site            330
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:14657255; propagated from
                     UniProtKB/Swiss-Prot (P34998.1)"
     Site            336..360
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P34998.1)"
     Region          337..364
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320561"
     Site            368..397
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P34998.1)"
     Region          371..396
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320561"
     CDS             1..444
                     /gene="CRHR1"
                     /gene_synonym="CRF-R; CRF-R-1; CRF-R1; CRF1; CRFR-1;
                     CRFR1; CRH-R-1; CRH-R1; CRHR; CRHR1L"
                     /coded_by="NM_001145146.2:226..1560"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1b"
                     /db_xref="CCDS:CCDS45712.1"
                     /db_xref="GeneID:1394"
                     /db_xref="HGNC:HGNC:2357"
                     /db_xref="MIM:122561"
ORIGIN      
        1 mgghpqlrlv kallllglnp vsaslqdqhc eslslasnis glqcnasvdl igtcwprspa
       61 gqlvvrpcpa ffygvryntt nngyreclan gswaarvnys ecqeilneek kskvhyhvav
      121 iinylghcis lvallvafvl flrlrpgcth wgdqadgale vgapwsgapf qvrrsirclr
      181 niihwnlisa filrnatwfv vqltmspevh qsnvgwcrlv taaynyfhvt nffwmfgegc
      241 ylhtaivlty stdrlrkwmf icigwgvpfp iivawaigkl yydnekcwfg krpgvytdyi
      301 yqgpmilvll infiflfniv rilmtklras ttsetiqyrk avkatlvllp llgitymlff
      361 vnpgedevsr vvfiyfnsfl esfqgffvsv fycflnsevr sairkrwhrw qdkhsirarv
      421 aramsiptsp trvsfhsikq stav
//
LOCUS       NP_001269794             105 aa            linear   PRI 30-MAR-2023
DEFINITION  transmembrane protein 108 isoform 2 precursor [Homo sapiens].
ACCESSION   NP_001269794
VERSION     NP_001269794.1
DBSOURCE    REFSEQ: accession NM_001282865.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 105)
  AUTHORS   Yu J, Liao X, Zhong Y, Wu Y, Lai X, Jiao H, Yan M, Zhang Y, Ma C
            and Wang S.
  TITLE     The Candidate Schizophrenia Risk Gene Tmem108 Regulates Glucose
            Metabolism Homeostasis
  JOURNAL   Front Endocrinol (Lausanne) 12, 770145 (2021)
   PUBMED   34690937
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 105)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 105)
  AUTHORS   Heath AC, Whitfield JB, Martin NG, Pergadia ML, Goate AM, Lind PA,
            McEvoy BP, Schrage AJ, Grant JD, Chou YL, Zhu R, Henders AK,
            Medland SE, Gordon SD, Nelson EC, Agrawal A, Nyholt DR, Bucholz KK,
            Madden PA and Montgomery GW.
  TITLE     A quantitative-trait genome-wide association study of alcoholism
            risk in the community: findings and implications
  JOURNAL   Biol Psychiatry 70 (6), 513-518 (2011)
   PUBMED   21529783
REFERENCE   4  (residues 1 to 105)
  AUTHORS   Elks CE, Perry JR, Sulem P, Chasman DI, Franceschini N, He C,
            Lunetta KL, Visser JA, Byrne EM, Cousminer DL, Gudbjartsson DF,
            Esko T, Feenstra B, Hottenga JJ, Koller DL, Kutalik Z, Lin P,
            Mangino M, Marongiu M, McArdle PF, Smith AV, Stolk L, van Wingerden
            SH, Zhao JH, Albrecht E, Corre T, Ingelsson E, Hayward C, Magnusson
            PK, Smith EN, Ulivi S, Warrington NM, Zgaga L, Alavere H, Amin N,
            Aspelund T, Bandinelli S, Barroso I, Berenson GS, Bergmann S,
            Blackburn H, Boerwinkle E, Buring JE, Busonero F, Campbell H,
            Chanock SJ, Chen W, Cornelis MC, Couper D, Coviello AD, d'Adamo P,
            de Faire U, de Geus EJ, Deloukas P, Doring A, Smith GD, Easton DF,
            Eiriksdottir G, Emilsson V, Eriksson J, Ferrucci L, Folsom AR,
            Foroud T, Garcia M, Gasparini P, Geller F, Gieger C, Gudnason V,
            Hall P, Hankinson SE, Ferreli L, Heath AC, Hernandez DG, Hofman A,
            Hu FB, Illig T, Jarvelin MR, Johnson AD, Karasik D, Khaw KT, Kiel
            DP, Kilpelainen TO, Kolcic I, Kraft P, Launer LJ, Laven JS, Li S,
            Liu J, Levy D, Martin NG, McArdle WL, Melbye M, Mooser V, Murray
            JC, Murray SS, Nalls MA, Navarro P, Nelis M, Ness AR, Northstone K,
            Oostra BA, Peacock M, Palmer LJ, Palotie A, Pare G, Parker AN,
            Pedersen NL, Peltonen L, Pennell CE, Pharoah P, Polasek O, Plump
            AS, Pouta A, Porcu E, Rafnar T, Rice JP, Ring SM, Rivadeneira F,
            Rudan I, Sala C, Salomaa V, Sanna S, Schlessinger D, Schork NJ,
            Scuteri A, Segre AV, Shuldiner AR, Soranzo N, Sovio U, Srinivasan
            SR, Strachan DP, Tammesoo ML, Tikkanen E, Toniolo D, Tsui K,
            Tryggvadottir L, Tyrer J, Uda M, van Dam RM, van Meurs JB,
            Vollenweider P, Waeber G, Wareham NJ, Waterworth DM, Weedon MN,
            Wichmann HE, Willemsen G, Wilson JF, Wright AF, Young L, Zhai G,
            Zhuang WV, Bierut LJ, Boomsma DI, Boyd HA, Crisponi L, Demerath EW,
            van Duijn CM, Econs MJ, Harris TB, Hunter DJ, Loos RJ, Metspalu A,
            Montgomery GW, Ridker PM, Spector TD, Streeten EA, Stefansson K,
            Thorsteinsdottir U, Uitterlinden AG, Widen E, Murabito JM, Ong KK
            and Murray A.
  CONSRTM   GIANT Consortium
  TITLE     Thirty new loci for age at menarche identified by a meta-analysis
            of genome-wide association studies
  JOURNAL   Nat Genet 42 (12), 1077-1085 (2010)
   PUBMED   21102462
REFERENCE   5  (residues 1 to 105)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092984.3, AC018472.30 and AC055753.21.
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            lacks an in-frame exon in the central coding region, compared to
            variant 1.  The encoded isoform (2) is shorter, compared to isoform
            1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK095050.1, SRR1660805.113179.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665, SAMEA2157437
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..105
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     Protein         1..105
                     /product="transmembrane protein 108 isoform 2 precursor"
                     /note="cancer/testis antigen 124; retrolinkin"
                     /calculated_mol_wt=8823
     sig_peptide     1..28
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3301
     Region          <14..105
                     /region_name="TMEM108"
                     /note="TMEM108 family; pfam15759"
                     /db_xref="CDD:434914"
     CDS             1..105
                     /gene="TMEM108"
                     /gene_synonym="CT124; RTLN"
                     /coded_by="NM_001282865.2:343..660"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS75012.1"
                     /db_xref="GeneID:66000"
                     /db_xref="HGNC:HGNC:28451"
                     /db_xref="MIM:617361"
ORIGIN      
        1 mkrslqalyc qlltvlltvc cmkrkkktan pennlsywnn titmdyfnrh avelpreiqs
       61 letsedqlse prspangdyr dtgmvlvnpf cqetlfvgnd qvsei
//
LOCUS       NP_001276792            1184 aa            linear   PRI 03-APR-2023
DEFINITION  period circadian protein homolog 3 isoform 3 [Homo sapiens].
ACCESSION   NP_001276792
VERSION     NP_001276792.1
DBSOURCE    REFSEQ: accession NM_001289863.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1184)
  AUTHORS   Lozano-Tovar S, Rodriguez-Agudelo Y, Davila-Ortiz de Montellano DJ,
            Perez-Aldana BE, Ortega-Vazquez A and Monroy-Jaramillo N.
  TITLE     Relationship between APOE, PER2, PER3 and OX2R Genetic Variants and
            Neuropsychiatric Symptoms in Patients with Alzheimer's Disease
  JOURNAL   Int J Environ Res Public Health 20 (5), 4412 (2023)
   PUBMED   36901420
  REMARK    GeneRIF: Relationship between APOE, PER2, PER3 and OX2R Genetic
            Variants and Neuropsychiatric Symptoms in Patients with Alzheimer's
            Disease.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1184)
  AUTHORS   Chen H, Yang P, Yang D, Wang D, Lu M, Li Y, Zhong Z, Zhang J, Zeng
            Z, Liu Z, Zeng X, Jia X, Xing Q and Zhou D.
  TITLE     The PER3rs772027021 SNP induces pigmentation phenotypes of
            dyschromatosis universalis hereditaria
  JOURNAL   J Mol Med (Berl) 101 (3), 279-294 (2023)
   PUBMED   36790533
  REMARK    GeneRIF: The PER3[rs772027021] SNP induces pigmentation phenotypes
            of dyschromatosis universalis hereditaria.
REFERENCE   3  (residues 1 to 1184)
  AUTHORS   Li T, Xie Y, Tao S, Zou L, Yang Y, Mou X, Wang M, Zhou P, Tao F and
            Wu X.
  TITLE     Moderating effects of PER3 gene DNA methylation on the association
            of sleep quality with mental health in Chinese young adults
  JOURNAL   J Affect Disord 323, 716-722 (2023)
   PUBMED   36528137
  REMARK    GeneRIF: Moderating effects of PER3 gene DNA methylation on the
            association of sleep quality with mental health in Chinese young
            adults.
REFERENCE   4  (residues 1 to 1184)
  AUTHORS   Aytac HM, Pehlivan M, Oyaci Y and Pehlivan S.
  TITLE     PERIOD3 (PER3) VNTR Variant Associated with Seasonal Pattern and
            Family History in Bipolar Disorder
  JOURNAL   Psychiatr Danub 34 (4), 695-699 (2022)
   PUBMED   36548883
  REMARK    GeneRIF: PERIOD3 (PER3) VNTR Variant Associated with Seasonal
            Pattern and Family History in Bipolar Disorder.
REFERENCE   5  (residues 1 to 1184)
  AUTHORS   Liu Y, Wu Z, Li Y, Zhang J, Gao Y, Yuan G and Han M.
  TITLE     PER3 plays anticancer roles in the oncogenesis and progression of
            breast cancer via regulating MEK/ERK signaling pathway
  JOURNAL   J Chin Med Assoc 85 (11), 1051-1060 (2022)
   PUBMED   36278918
  REMARK    GeneRIF: PER3 plays anticancer roles in the oncogenesis and
            progression of breast cancer via regulating MEK/ERK signaling
            pathway.
REFERENCE   6  (residues 1 to 1184)
  AUTHORS   Takano A, Shimizu K, Kani S, Buijs RM, Okada M and Nagai K.
  TITLE     Cloning and characterization of rat casein kinase 1epsilon
  JOURNAL   FEBS Lett 477 (1-2), 106-112 (2000)
   PUBMED   10899319
REFERENCE   7  (residues 1 to 1184)
  AUTHORS   Yagita K, Yamaguchi S, Tamanini F, van Der Horst GT, Hoeijmakers
            JH, Yasui A, Loros JJ, Dunlap JC and Okamura H.
  TITLE     Dimerization and nuclear entry of mPER proteins in mammalian cells
  JOURNAL   Genes Dev 14 (11), 1353-1363 (2000)
   PUBMED   10837028
REFERENCE   8  (residues 1 to 1184)
  AUTHORS   Kume K, Zylka MJ, Sriram S, Shearman LP, Weaver DR, Jin X, Maywood
            ES, Hastings MH and Reppert SM.
  TITLE     mCRY1 and mCRY2 are essential components of the negative limb of
            the circadian clock feedback loop
  JOURNAL   Cell 98 (2), 193-205 (1999)
   PUBMED   10428031
REFERENCE   9  (residues 1 to 1184)
  AUTHORS   Shearman LP, Zylka MJ, Weaver DR, Kolakowski LF Jr and Reppert SM.
  TITLE     Two period homologs: circadian expression and photic regulation in
            the suprachiasmatic nuclei
  JOURNAL   Neuron 19 (6), 1261-1269 (1997)
   PUBMED   9427249
REFERENCE   10 (residues 1 to 1184)
  AUTHORS   Ferrari N, Desmarais D and Royal A.
  TITLE     Transcriptional activation of the neuronal peripherin-encoding gene
            depends on a G + C-rich element that binds Sp1 in vitro and in vivo
  JOURNAL   Gene 159 (2), 159-165 (1995)
   PUBMED   7622044
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z98884.11.
            
            Summary: This gene is a member of the Period family of genes and is
            expressed in a circadian pattern in the suprachiasmatic nucleus,
            the primary circadian pacemaker in the mammalian brain. Genes in
            this family encode components of the circadian rhythms of locomotor
            activity, metabolism, and behavior. This gene is upregulated by
            CLOCK/ARNTL heterodimers but then represses this upregulation in a
            feedback loop using PER/CRY heterodimers to interact with
            CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep
            disorders. Multiple transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Jan 2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2154665
                              [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1184
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.23"
     Protein         1..1184
                     /product="period circadian protein homolog 3 isoform 3"
                     /note="period circadian protein 3; period circadian
                     protein homolog 3; circadian clock protein PERIOD 3; cell
                     growth-inhibiting gene 13 protein; period circadian clock
                     3"
                     /calculated_mol_wt=130067
     Region          285..377
                     /region_name="PAS"
                     /note="PAS domain; PAS motifs appear in archaea,
                     eubacteria and eukarya. Probably the most surprising
                     identification of a PAS domain was that in EAG-like
                     K+-channels. PAS domains have been found to bind ligands,
                     and to act as sensors for light and oxygen in...; cd00130"
                     /db_xref="CDD:238075"
     Site            order(288,292,298,311..314,343,348)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238075"
     Site            order(308,312,320,323..324,355,357)
                     /site_type="other"
                     /note="heme pocket [chemical binding]"
                     /db_xref="CDD:238075"
     Region          <740..1035
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <1057..1159
                     /region_name="Period_C"
                     /note="Period protein 2/3C-terminal region; pfam12114"
                     /db_xref="CDD:432341"
     CDS             1..1184
                     /gene="PER3"
                     /gene_synonym="FASPS3; GIG13"
                     /coded_by="NM_001289863.3:403..3957"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:8863"
                     /db_xref="HGNC:HGNC:8847"
                     /db_xref="MIM:603427"
ORIGIN      
        1 mprgeapgpg rrgakdealg eesgerwspe fhlqrklads shseqqdrnr vseelimvvq
       61 emkkyfpser rnkpstldal nyalrcvhsv qanseffqil sqngapqadv smysleelat
      121 iasehtsknt dtfvavfsfl sgrlvhiseq aalilnrkkd vlasshfvdl lapqdmrvfy
      181 ahtaraqlpf wnnwtqraaa ryecapvkpf fcrirggedr kqekchspfr iipylihvhh
      241 paqpelesep ccltvvekih sgyeapripv nkriftttht pgcvflevde kavpllgylp
      301 qdligtsils ylhpedrslm vaihqkvlky aghppfehsp irfctqngdy iildsswssf
      361 vnpwsrkisf iigrhkvrts plnedvfatk ikkmndndkd itelqeqiyk lllqpvhvsv
      421 ssgygslgss gsqeqlvsia ssseasghrv eetkaeqmtl qqvyasvnki knlgqqlyie
      481 smtkssfkpv tgtrtepngg gecktftsfh qtlknnsvyt epcedlrnde hspsyqqinc
      541 idsvirylks ynipalkrkc isctnttsss seedkqnhka ddvqalqagl qipaipksem
      601 ptngrsidtg ggapqilsta mlslgsgisq cgysstivhv pppetardat lfcepwtlnm
      661 qpapltseef khvgltaavl sahtqkeeqn yvdkfrekil sspyssylqq esrskakysy
      721 fqgdstskqt rsagcrkgkh krkklpeppd ssssntgsgp rrgahqnaqp ccpsaassph
      781 tssptfppaa mvpsqapylv pafplpaats pgreyaapgt apeglhglpl seglqpypaf
      841 pfpyldtfmt vflpdppvcp llspsflpcp flgatassai spsmssamsp tldpppsvts
      901 qrreeekwea qseghpfits rsssplqlnl lqeemprpse spdqmrrntc pqteycvtgn
      961 ngsesspatt galstgsppr enpshptasa lstgsppmkn pshptastls mglppsrtps
     1021 hptatvlstg sppsespsrt gsaasgssds siyltssvys skisqngqqs qdvqkketfp
     1081 nvaeepiwrm irqtperilm tyqvpervke vvlkedlekl esmrqqqpqf shgqkeelak
     1141 vynwiqsqtv tqeidiqacv tcenedsadg aatscgqvlv edsc
//
LOCUS       NP_001308212            1040 aa            linear   PRI 17-APR-2023
DEFINITION  transient receptor potential cation channel subfamily M member 4
            isoform 5 [Homo sapiens].
ACCESSION   NP_001308212 XP_011525348
VERSION     NP_001308212.1
DBSOURCE    REFSEQ: accession NM_001321283.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1040)
  AUTHORS   Otsuka Saito K, Fujita F, Toriyama M, Utami RA, Guo Z, Murakami M,
            Kato H, Suzuki Y, Okada F, Tominaga M and Ishii KJ.
  TITLE     Roles of TRPM4 in immune responses in keratinocytes and
            identification of a novel TRPM4-activating agent
  JOURNAL   Biochem Biophys Res Commun 654, 1-9 (2023)
   PUBMED   36871485
  REMARK    GeneRIF: Roles of TRPM4 in immune responses in keratinocytes and
            identification of a novel TRPM4-activating agent.
REFERENCE   2  (residues 1 to 1040)
  AUTHORS   Krocker JD, Cotton ME, Schriner JB, Osborn BK, Talanker MM, Wang
            YW, Cox CS Jr and Wade CE.
  TITLE     Influence of TRPM4 rs8104571 genotype on intracranial pressure and
            outcomes in African Americans with traumatic brain injury
  JOURNAL   Sci Rep 13 (1), 5815 (2023)
   PUBMED   37037835
  REMARK    GeneRIF: Influence of TRPM4 rs8104571 genotype on intracranial
            pressure and outcomes in African Americans with traumatic brain
            injury.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1040)
  AUTHORS   Qu D, Schurmann P, Rothamel T, Dork T and Klintschar M.
  TITLE     Variants in genes encoding the SUR1-TRPM4 non-selective cation
            channel and sudden infant death syndrome (SIDS): potentially
            increased risk for cerebral edema
  JOURNAL   Int J Legal Med 136 (4), 1113-1120 (2022)
   PUBMED   35474489
  REMARK    GeneRIF: Variants in genes encoding the SUR1-TRPM4 non-selective
            cation channel and sudden infant death syndrome (SIDS): potentially
            increased risk for cerebral edema.
REFERENCE   4  (residues 1 to 1040)
  AUTHORS   Stoklosa P, Kappel S and Peinelt C.
  TITLE     A Novel Role of the TRPM4 Ion Channel in Exocytosis
  JOURNAL   Cells 11 (11), 1793 (2022)
   PUBMED   35681487
  REMARK    GeneRIF: A Novel Role of the TRPM4 Ion Channel in Exocytosis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1040)
  AUTHORS   Launay P, Cheng H, Srivatsan S, Penner R, Fleig A and Kinet JP.
  TITLE     TRPM4 regulates calcium oscillations after T cell activation
  JOURNAL   Science 306 (5700), 1374-1377 (2004)
   PUBMED   15550671
  REMARK    GeneRIF: TRPM4-mediated depolarization modulates Ca2+ oscillations,
            with downstream effects on cytokine production in T lymphocytes
REFERENCE   6  (residues 1 to 1040)
  AUTHORS   Nilius B, Prenen J, Droogmans G, Voets T, Vennekens R, Freichel M,
            Wissenbach U and Flockerzi V.
  TITLE     Voltage dependence of the Ca2+-activated cation channel TRPM4
  JOURNAL   J Biol Chem 278 (33), 30813-30820 (2003)
   PUBMED   12799367
  REMARK    GeneRIF: Voltage dependence is not due to block by divalent cations
            or to voltage-dependent binding of intracellular Ca2+ to an
            activator site, indicating that TRPM4 is a transient receptor
            potential channel with an intrinsic voltage-sensing mechanism.
REFERENCE   7  (residues 1 to 1040)
  AUTHORS   Hofmann T, Chubanov V, Gudermann T and Montell C.
  TITLE     TRPM5 is a voltage-modulated and Ca(2+)-activated monovalent
            selective cation channel
  JOURNAL   Curr Biol 13 (13), 1153-1158 (2003)
   PUBMED   12842017
REFERENCE   8  (residues 1 to 1040)
  AUTHORS   Launay P, Fleig A, Perraud AL, Scharenberg AM, Penner R and Kinet
            JP.
  TITLE     TRPM4 is a Ca2+-activated nonselective cation channel mediating
            cell membrane depolarization
  JOURNAL   Cell 109 (3), 397-407 (2002)
   PUBMED   12015988
REFERENCE   9  (residues 1 to 1040)
  AUTHORS   Xu XZ, Moebius F, Gill DL and Montell C.
  TITLE     Regulation of melastatin, a TRP-related protein, through
            interaction with a cytoplasmic isoform
  JOURNAL   Proc Natl Acad Sci U S A 98 (19), 10692-10697 (2001)
   PUBMED   11535825
REFERENCE   10 (residues 1 to 1040)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301690
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008891.7, AY297044.1 and
            BM857470.1.
            On Mar 19, 2016 this sequence version replaced XP_011525348.1.
            
            Summary: The protein encoded by this gene is a calcium-activated
            nonselective ion channel that mediates transport of monovalent
            cations across membranes, thereby depolarizing the membrane. The
            activity of the encoded protein increases with increasing
            intracellular calcium concentration, but this channel does not
            transport calcium. [provided by RefSeq, Mar 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY046396.1, AY297044.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142363
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1040
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..1040
                     /product="transient receptor potential cation channel
                     subfamily M member 4 isoform 5"
                     /note="melastatin-4; long transient receptor potential
                     channel 4; calcium-activated non-selective cation channel
                     1"
                     /calculated_mol_wt=115435
     Region          <2..183
                     /region_name="LSDAT_euk"
                     /note="SLOG in TRPM; cl39032"
                     /db_xref="CDD:453937"
     Region          <677..909
                     /region_name="TRPV"
                     /note="Transient Receptor Potential channel, Vanilloid
                     subfamily (TRPV); cl40437"
                     /db_xref="CDD:454755"
     CDS             1..1040
                     /gene="TRPM4"
                     /gene_synonym="EKVP6; hTRPM4; LTrpC4; PFHB1B; TRPM4B"
                     /coded_by="NM_001321283.2:242..3364"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:54795"
                     /db_xref="HGNC:HGNC:17993"
                     /db_xref="MIM:606936"
ORIGIN      
        1 mastggtkvv amgvapwgvv rnrdtlinpk gsfparyrwr gdpedgvqfp ldynysaffl
       61 vddgthgclg genrfrlrle syisqqktgv ggtgidipvl lllidgdekm ltrienatqa
      121 qlpcllvags ggaadclaet ledtlapgsg garqgeardr irrffpkgdl evlqaqveri
      181 mtrkelltvy ssedgseefe tivlkalvka cgsseasayl delrlavawn rvdiaqself
      241 rgdiqwrsfh leaslmdall ndrpefvrll ishglslghf ltpmrlaqly saapsnslir
      301 nlldqashsa gtkapalkgg aaelrppdvg hvlrmllgkm caprypsgga wdphpgqgfg
      361 esmyllsdka tsplsldagl gqapwsdlll walllnraqm amyfwemgsn avssalgacl
      421 llrvmarlep daeeaarrkd lafkfegmgv dlfgecyrss evraarlllr rcplwgdatc
      481 lqlamqadar affaqdgvqs lltqkwwgdm asttpiwalv laffcppliy trlitfrkse
      541 eeptreelef dmdsvingeg pvgtadpaek tplgvprqsg rpgccggrcg grrclrrwfh
      601 fwgapvtifm gnvvsyllfl llfsrvllvd fqpappgsle lllyfwaftl lceelrqgls
      661 ggggslasgg pgpghaslsq rlrlyladsw nqcdlvaltc fllgvgcrlt pglyhlgrtv
      721 lcidfmvftv rllhiftvnk qlgpkivivs kmmkdvfffl fflgvwlvay gvategllrp
      781 rdsdfpsilr rvfyrpylqi fgqipqedmd valmehsncs sepgfwahpp gaqagtcvsq
      841 yanwlvvlll vifllvanil lvnlliamfs ytfgkvqgns dlywkaqryr lirefhsrpa
      901 lappfivish lrlllrqlcr rprspqpssp alehfrvyls keaerklltw esvhkenfll
      961 arardkresd serlkrtsqk vdlalkqlgh ireyeqrlkv lerevqqcsr vlgwvaeals
     1021 rsallppggp pppdlpgskd
//
LOCUS       NP_001243525              84 aa            linear   PRI 17-APR-2022
DEFINITION  pancreatic progenitor cell differentiation and proliferation
            factor-like protein isoform b [Homo sapiens].
ACCESSION   NP_001243525
VERSION     NP_001243525.1
DBSOURCE    REFSEQ: accession NM_001256596.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 84)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N,
            Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar
            M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG202040.1, AC044893.5 and BC017981.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR and uses
            an alternate splice site in the 3' coding region, which results in
            a frameshift, compared to variant 1. It encodes isoform b, which
            has a longer and distinct C-terminus, compared to isoform a.
            Variants 2 and 3 encode the same isoform (b).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BG202040.1, BG205690.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2145893 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..84
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q11.21"
     Protein         1..84
                     /product="pancreatic progenitor cell differentiation and
                     proliferation factor-like protein isoform b"
                     /note="pancreatic progenitor cell differentiation and
                     proliferation factor-like protein; exocrine
                     differentiation and proliferation factor-like protein"
                     /calculated_mol_wt=9143
     CDS             1..84
                     /gene="PPDPFL"
                     /gene_synonym="C8orf22"
                     /coded_by="NM_001256596.1:79..333"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS59102.1"
                     /db_xref="GeneID:492307"
                     /db_xref="HGNC:HGNC:31745"
ORIGIN      
        1 masvpsigcl larnqyyrks svssvsslts sdsvnfiddd kpqqglpeva estwwfksff
       61 hsepvlsnvr ikdlsatglq mstl
//
LOCUS       NP_001352236             139 aa            linear   PRI 29-OCT-2022
DEFINITION  uncharacterized protein LOC112694756 isoform 1 [Homo sapiens].
ACCESSION   NP_001352236
VERSION     NP_001352236.1
DBSOURCE    REFSEQ: accession NM_001365307.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 139)
  AUTHORS   Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R,
            Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T,
            Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K,
            Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T,
            Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T
            and Sugano S.
  TITLE     Diversification of transcriptional modulation: large-scale
            identification and characterization of putative alternative
            promoters of human genes
  JOURNAL   Genome Res 16 (1), 55-65 (2006)
   PUBMED   16344560
REFERENCE   2  (residues 1 to 139)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL,
            Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P,
            Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy
            SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH,
            Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW,
            Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J,
            Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M,
            Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW,
            Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J,
            Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U,
            Smailus DE, Schnerch A, Schein JE, Jones SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093512.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.604106.1,
                                           SRR1803611.44158.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            NMD candidate :: translation inferred from conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..139
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     Protein         1..139
                     /product="uncharacterized protein LOC112694756 isoform 1"
                     /note="Fructose-bisphosphate aldolase A; Lung cancer
                     antigen NY-LU-1; Muscle-type aldolase"
                     /calculated_mol_wt=14667
     CDS             1..139
                     /gene="LOC112694756"
                     /gene_synonym="ALDA; ALDOA"
                     /coded_by="NM_001365307.2:344..763"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS92136.1"
                     /db_xref="GeneID:112694756"
ORIGIN      
        1 mdassspwnp tpapvssppl llpipaivfi avgiyllllg lvlltrncll aqgccadgss
       61 pcrkqgssgp pdccwtcaea cnfplpspah fldaccpqpt radwaprcpr ccplcdcact
      121 cqlpdcqsln clcfeiklr
//
LOCUS       NP_786924                425 aa            linear   PRI 17-DEC-2022
DEFINITION  putative E3 ubiquitin-protein ligase UBR7 [Homo sapiens].
ACCESSION   NP_786924 NP_060578
VERSION     NP_786924.2
DBSOURCE    REFSEQ: accession NM_175748.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 425)
  AUTHORS   Hogan AK, Sathyan KM, Willis AB, Khurana S, Srivastava S,
            Zasadzinska E, Lee AS, Bailey AO, Gaynes MN, Huang J, Bodner J,
            Rosencrance CD, Wong KA, Morgan MA, Eagen KP, Shilatifard A and
            Foltz DR.
  TITLE     UBR7 acts as a histone chaperone for post-nucleosomal histone H3
  JOURNAL   EMBO J 40 (24), e108307 (2021)
   PUBMED   34786730
  REMARK    GeneRIF: UBR7 acts as a histone chaperone for post-nucleosomal
            histone H3.
REFERENCE   2  (residues 1 to 425)
  AUTHORS   Srivastava S, Sahu U, Zhou Y, Hogan AK, Sathyan KM, Bodner J, Huang
            J, Wong KA, Khalatyan N, Savas JN, Ntziachristos P, Ben-Sahra I and
            Foltz DR.
  TITLE     NOTCH1-driven UBR7 stimulates nucleotide biosynthesis to promote T
            cell acute lymphoblastic leukemia
  JOURNAL   Sci Adv 7 (5) (2021)
   PUBMED   33571115
  REMARK    GeneRIF: NOTCH1-driven UBR7 stimulates nucleotide biosynthesis to
            promote T cell acute lymphoblastic leukemia.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 425)
  AUTHORS   Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJ, Neas
            K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, Wenzel M, Al
            Mutairi F, Al Deiab H, Gleeson JG, Stanley V, Zaki MS, Kwon YT,
            Leroux MR and Campeau PM.
  TITLE     UBR7 functions with UBR5 in the Notch signaling pathway and is
            involved in a neurodevelopmental syndrome with epilepsy, ptosis,
            and hypothyroidism
  JOURNAL   Am J Hum Genet 108 (1), 134-147 (2021)
   PUBMED   33340455
  REMARK    GeneRIF: UBR7 functions with UBR5 in the Notch signaling pathway
            and is involved in a neurodevelopmental syndrome with epilepsy,
            ptosis, and hypothyroidism.
REFERENCE   4  (residues 1 to 425)
  AUTHORS   Adhikary S, Chakravarti D, Terranova C, Sengupta I, Maitituoheti M,
            Dasgupta A, Srivastava DK, Ma J, Raman AT, Tarco E, Sahin AA,
            Bassett R, Yang F, Tapia C, Roy S, Rai K and Das C.
  TITLE     Atypical plant homeodomain of UBR7 functions as an H2BK120Ub ligase
            and breast tumor suppressor
  JOURNAL   Nat Commun 10 (1), 1398 (2019)
   PUBMED   30923315
  REMARK    GeneRIF: Results established UBR7 as a histone H2B monoubiquitin
            ligase that suppresses tumorigenesis and metastasis of
            triple-negative breast cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 425)
  AUTHORS   Zimmerman SW, Yi YJ, Sutovsky M, van Leeuwen FW, Conant G and
            Sutovsky P.
  TITLE     Identification and characterization of RING-finger ubiquitin ligase
            UBR7 in mammalian spermatozoa
  JOURNAL   Cell Tissue Res 356 (1), 261-278 (2014)
   PUBMED   24664117
  REMARK    GeneRIF: These data provide the first evidence of ubiquitin ligase
            activity in mammalian spermatozoa and indicate UBR7 involvement in
            spermiogenesis.
REFERENCE   6  (residues 1 to 425)
  AUTHORS   Lee MJ, Pal K, Tasaki T, Roy S, Jiang Y, An JY, Banerjee R and Kwon
            YT.
  TITLE     Synthetic heterovalent inhibitors targeting recognition E3
            components of the N-end rule pathway
  JOURNAL   Proc Natl Acad Sci U S A 105 (1), 100-105 (2008)
   PUBMED   18162545
REFERENCE   7  (residues 1 to 425)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB047433.1 and BC051819.1.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Aug 2, 2007 this sequence version replaced
            NP_060578.2, NP_786924.1.
            
            Summary: This gene encodes a UBR box-containing protein that
            belongs to the E3 ubiquitin ligase family. The protein also
            contains a plant homeodomain (PHD) in the C-terminus. In mammals,
            the encoded protein recognizes N-degrons, the destabilizing
            N-terminal residues of short-lived proteins, which results in
            ubiquitinylation, and proteolysis via the proteasome. [provided by
            RefSeq, Jul 2016].
            
            Transcript Variant: This variant (2) represents the longer
            transcript and encodes the supported protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC015046.1, SRR1803613.255047.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000013070.11/ ENSP00000013070.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..425
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12"
     Protein         1..425
                     /product="putative E3 ubiquitin-protein ligase UBR7"
                     /EC_number="2.3.2.27"
                     /note="N-recognin-7; RING-type E3 ubiquitin transferase
                     UBR7; ubiquitin protein ligase E3 component n-recognin 7
                     (putative)"
                     /calculated_mol_wt=47868
     Region          45..115
                     /region_name="UBR-box_UBR7"
                     /note="UBR-box found in RING-type E3 ubiquitin-protein
                     ligase UBR7 and similar proteins; cd19677"
                     /db_xref="CDD:439075"
     Site            order(61,64,75,78,82..83,86,99,101,111)
                     /site_type="other"
                     /note="putative Zn binding site [ion binding]"
                     /db_xref="CDD:439075"
     Region          134..185
                     /region_name="PHD_UBR7"
                     /note="PHD finger found in putative E3 ubiquitin-protein
                     ligase UBR7; cd15542"
                     /db_xref="CDD:277017"
     Site            order(134,151..155,159,180)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277017"
     Region          225..246
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N806.2)"
     Site            264
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8N806.2)"
     Site            354
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N806.2)"
     CDS             1..425
                     /gene="UBR7"
                     /gene_synonym="C14orf130; LICAS"
                     /coded_by="NM_175748.4:37..1314"
                     /db_xref="CCDS:CCDS9909.1"
                     /db_xref="GeneID:55148"
                     /db_xref="HGNC:HGNC:20344"
                     /db_xref="MIM:613816"
ORIGIN      
        1 magaegaagr qselepvvsl vdvleedeel eneacavlgg sdsekcsysq gsvkrqalya
       61 cstctpegee pagiclacsy echgshklfe lytkrnfrcd cgnskfknle ckllpdkakv
      121 nsgnkyndnf fglycickrp ypdpedeipd emiqcvvced wfhgrhlgai ppesgdfqem
      181 vcqacmkrcs flwayaaqla vtkisteddg lvrnidgigd qevikpenge hqdstlkedv
      241 peqgkddvre vkveqnsepc agsssesdlq tvfkneslna esksgcklqe lkakqlikkd
      301 tatywplnwr sklctcqdcm kmygdldvlf ltdeydtvla yenkgkiaqa tdrsdplmdt
      361 lssmnrvqqv eliceyndlk telkdylkrf adegtvvkre diqqffeefq skkrrrvdgm
      421 qyycs
//
LOCUS       NP_001341139             596 aa            linear   PRI 17-DEC-2022
DEFINITION  arylsulfatase J isoform 2 precursor [Homo sapiens].
ACCESSION   NP_001341139 XP_005263269
VERSION     NP_001341139.1
DBSOURCE    REFSEQ: accession NM_001354210.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 596)
  AUTHORS   He,J., Kelly,T.N., Zhao,Q., Li,H., Huang,J., Wang,L., Jaquish,C.E.,
            Sung,Y.J., Shimmin,L.C., Lu,F., Mu,J., Hu,D., Ji,X., Shen,C.,
            Guo,D., Ma,J., Wang,R., Shen,J., Li,S., Chen,J., Mei,H., Chen,C.S.,
            Chen,S., Chen,J., Li,J., Cao,J., Lu,X., Wu,X., Rice,T.K., Gu,C.C.,
            Schwander,K., Hamm,L.L., Liu,D., Rao,D.C., Hixson,J.E. and Gu,D.
  TITLE     Genome-wide association study identifies 8 novel loci associated
            with blood pressure responses to interventions in Han Chinese
  JOURNAL   Circ Cardiovasc Genet 6 (6), 598-607 (2013)
   PUBMED   24165912
REFERENCE   2  (residues 1 to 596)
  AUTHORS   Kalsi G, Kuo PH, Aliev F, Alexander J, McMichael O, Patterson DG,
            Walsh D, Zhao Z, Schuckit M, Nurnberger J Jr, Edenberg H, Kramer J,
            Hesselbrock V, Tischfield JA, Vladimirov V, Prescott CA, Dick DM,
            Kendler KS and Riley BP.
  TITLE     A systematic gene-based screen of chr4q22-q32 identifies
            association of a novel susceptibility gene, DKK2, with the
            quantitative trait of alcohol dependence symptom counts
  JOURNAL   Hum Mol Genet 19 (12), 2497-2506 (2010)
   PUBMED   20332099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock,
            Victor [added]; Tischfield, Jay A [added]]
REFERENCE   3  (residues 1 to 596)
  AUTHORS   Obaya AJ.
  TITLE     Molecular cloning and initial characterization of three novel human
            sulfatases
  JOURNAL   Gene 372, 110-117 (2006)
   PUBMED   16500042
  REMARK    GeneRIF: The identification, molecular cloning and initial
            characterization of three new members of this human gene family is
            reported.
REFERENCE   4  (residues 1 to 596)
  AUTHORS   Sardiello M, Annunziata I, Roma G and Ballabio A.
  TITLE     Sulfatases and sulfatase modifying factors: an exclusive and
            promiscuous relationship
  JOURNAL   Hum Mol Genet 14 (21), 3203-3217 (2005)
   PUBMED   16174644
REFERENCE   5  (residues 1 to 596)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104779.4.
            On Aug 10, 2017 this sequence version replaced XP_005263269.1.
            
            Summary: Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate
            esters from sulfated steroids, carbohydrates, proteoglycans, and
            glycolipids. They are involved in hormone biosynthesis, modulation
            of cell signaling, and degradation of macromolecules (Sardiello et
            al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AM049401.1, DRR138512.493252.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..596
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q26"
     Protein         1..596
                     /product="arylsulfatase J isoform 2 precursor"
                     /EC_number="3.1.6.12"
                     /note="arylsulfatase J"
                     /calculated_mol_wt=61981
     sig_peptide     1..49
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5FYB0.1)"
                     /calculated_mol_wt=5091
     Region          76..509
                     /region_name="4-S"
                     /note="N-acetylgalactosamine 4-sulfatase, also called
                     arylsulftase B; cd16029"
                     /db_xref="CDD:293753"
     Site            order(84..85,122,176,178,269,327..328)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:293753"
     Site            order(84..85,122,176,178,269,328)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:293753"
     Site            157
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5FYB0.1)"
     Site            306
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5FYB0.1)"
     Site            318
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5FYB0.1)"
     Site            431
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5FYB0.1)"
     Region          <495..>533
                     /region_name="DUF4976"
                     /note="Domain of unknown function (DUF4976); cl20644"
                     /db_xref="CDD:419068"
     Site            497
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5FYB0.1)"
     Site            527
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5FYB0.1)"
     CDS             1..596
                     /gene="ARSJ"
                     /gene_synonym="ASJ"
                     /coded_by="NM_001354210.2:814..2604"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="GeneID:79642"
                     /db_xref="HGNC:HGNC:26286"
                     /db_xref="MIM:610010"
ORIGIN      
        1 maprgcaghp pppspqacvc pgkmlamgal agfwilcllt ygylswgqal eeeeegalla
       61 qageklepst tstsqphlif iladdqgfrd vgyhgseikt ptldklaaeg vklenyyvqp
      121 ictpsrsqfi tgkyqihtgl qhsiirptqp nclpldnatl pqklkevgys thmvgkwhlg
      181 fyrkecmptr rgfdtffgsl lgsgdyythy kcdspgmcgy dlyendnaaw dydngiystq
      241 mytqrvqqil ashnptkpif lyiayqavhs plqapgryfe hyrsiininr rryaamlscl
      301 deainnvtla lktygfynns iiiyssdngg qptaggsnwp lrgskgtywe ggiravgfvh
      361 spllknkgtv ckelvhitdw yptlislaeg qidediqldg ydiwetiseg lrsprvdilh
      421 nidpiytkak ngswaagygi wntaiqsair vqhwklltgn pgysdwvppq sfsnlgpnrw
      481 hneritlstg ksvwlfnita dpyervdlsn rypgivkkll rrlsqfnkta vpvryppkdp
      541 rsnprlnggv wgpwykeetk kkkpsknqae kkqkkskkkk kkqqkavsgk panlar
//
LOCUS       NP_001006121             496 aa            linear   PRI 18-DEC-2022
DEFINITION  RNA-binding motif protein, Y chromosome, family 1 member B isoform
            1 [Homo sapiens].
ACCESSION   NP_001006121
VERSION     NP_001006121.1
DBSOURCE    REFSEQ: accession NM_001006121.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 496)
  AUTHORS   Kido T, Tabatabai ZL, Chen X and Lau YC.
  TITLE     Potential dual functional roles of the Y-linked RBMY in
            hepatocarcinogenesis
  JOURNAL   Cancer Sci 111 (8), 2987-2999 (2020)
   PUBMED   32473614
  REMARK    GeneRIF: Potential dual functional roles of the Y-linked RBMY in
            hepatocarcinogenesis.
REFERENCE   2  (residues 1 to 496)
  AUTHORS   Tsuei DJ, Hsu HC, Lee PH, Jeng YM, Pu YS, Chen CN, Lee YC, Chou WC,
            Chang CJ, Ni YH and Chang MH.
  TITLE     RBMY, a male germ cell-specific RNA-binding protein, activated in
            human liver cancers and transforms rodent fibroblasts
  JOURNAL   Oncogene 23 (34), 5815-5822 (2004)
   PUBMED   15184870
REFERENCE   3  (residues 1 to 496)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   4  (residues 1 to 496)
  AUTHORS   Venables JP, Elliott DJ, Makarova OV, Makarov EM, Cooke HJ and
            Eperon IC.
  TITLE     RBMY, a probable human spermatogenesis factor, and other hnRNP G
            proteins interact with Tra2beta and affect splicing
  JOURNAL   Hum Mol Genet 9 (5), 685-694 (2000)
   PUBMED   10749975
REFERENCE   5  (residues 1 to 496)
  AUTHORS   Chai NN, Zhou H, Hernandez J, Najmabadi H, Bhasin S and Yen PH.
  TITLE     Structure and organization of the RBMY genes on the human Y
            chromosome: transposition and amplification of an ancestral
            autosomal hnRNPG gene
  JOURNAL   Genomics 49 (2), 283-289 (1998)
   PUBMED   9598316
REFERENCE   6  (residues 1 to 496)
  AUTHORS   Prosser J, Inglis JD, Condie A, Ma K, Kerr S, Thakrar R, Taylor K,
            Cameron JM and Cooke HJ.
  TITLE     Degeneracy in human multicopy RBM (YRRM), a candidate
            spermatogenesis gene
  JOURNAL   Mamm Genome 7 (11), 835-842 (1996)
   PUBMED   8875892
REFERENCE   7  (residues 1 to 496)
  AUTHORS   Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed
            RM, Thomson EJ, Jobling M, Taylor K et al.
  TITLE     A Y chromosome gene family with RNA-binding protein homology:
            candidates for the azoospermia factor AZF controlling human
            spermatogenesis
  JOURNAL   Cell 75 (7), 1287-1295 (1993)
   PUBMED   8269511
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010141.2.
            
            Summary: This gene encodes a protein containing an RNA-binding
            motif in the N-terminus and four SRGY (serine, arginine, glycine,
            tyrosine) boxes in the C-terminus. This protein likely functions as
            a splicing factor during spermatogenesis. Multiple closely related
            paralogs of this gene are found in a gene cluster in the AZFb
            azoospermia factor region of chromosome Y. Most of these related
            copies are thought to be pseudogenes, though several likely encode
            functional proteins. [provided by RefSeq, Mar 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000383020.7/ ENSP00000372484.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.223"
     Protein         1..496
                     /product="RNA-binding motif protein, Y chromosome, family
                     1 member B isoform 1"
                     /note="RNA-binding motif protein, Y chromosome, family 1
                     member B; RNA-binding motif protein, Y chromosome, family
                     1 member D"
                     /calculated_mol_wt=55704
     Region          <1..189
                     /region_name="RRM"
                     /note="RNA recognition motif (RRM) domain [Translation,
                     ribosomal structure and biogenesis]; COG0724"
                     /db_xref="CDD:223796"
     Region          7..85
                     /region_name="RRM_RBMX_like"
                     /note="RNA recognition motif (RRM) found in heterogeneous
                     nuclear ribonucleoprotein G (hnRNP G), Y chromosome RNA
                     recognition motif 1 (hRBMY), testis-specific heterogeneous
                     nuclear ribonucleoprotein G-T (hnRNP G-T) and similar
                     proteins; cd12382"
                     /db_xref="CDD:409816"
     Site            order(9,11,13..17,38,40..43,44..50,52,77,79,81..85)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:409816"
     Region          67..349
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDE4.2)"
     Region          158..>316
                     /region_name="dnaA"
                     /note="chromosomal replication initiator protein DnaA;
                     cl42516"
                     /db_xref="CDD:455861"
     Region          174..218
                     /region_name="RBM1CTR"
                     /note="RBM1CTR (NUC064) family; pfam08081"
                     /db_xref="CDD:400429"
     Region          452..496
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDE4.2)"
     CDS             1..496
                     /gene="RBMY1B"
                     /gene_synonym="RBMY1D"
                     /coded_by="NM_001006121.4:153..1643"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS35479.1"
                     /db_xref="GeneID:378948"
                     /db_xref="HGNC:HGNC:23914"
ORIGIN      
        1 mveadhpgkl figglnretn ekmlkavfgk hgpisevlli kdrtsksrgf afitfenpad
       61 aknaakdmng kslhgkaikv eqakkpsfqs ggrrrppass rnrspsgslr sargsrggtr
      121 gwlpsqeghl ddggytpdlk msysrglipv krgpssrsgg pppkksapsa varsnswmgs
      181 qgpmsqrren ygvpprrati sswrndrmst rhdgyatndg nhpscqetrd yappsrgyay
      241 rdnghsnrde hssrgyrnhr ssretrdyap psrghayrdy ghsrrdesys rgyrnrrssr
      301 etreyappsr ghgyrdyghs rrhesysrgy rnhpssretr dyapphrdya yrdyghsswd
      361 ehssrgysyh dgygealgrd hsehlsgssy rdalqrygts hgappargpr msyggstcha
      421 ysntrdrygr swesysscgd fhycdrehvc rkdqrnppsl grvlpdprea ygsssyvasi
      481 vdggesrsek gdssry
//
LOCUS       NP_857597               1349 aa            linear   PRI 25-DEC-2022
DEFINITION  zinc finger protein 804B [Homo sapiens].
ACCESSION   NP_857597
VERSION     NP_857597.1
DBSOURCE    REFSEQ: accession NM_181646.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1349)
  AUTHORS   Zouboulis CC, Nogueira da Costa A, Fimmel S and Zouboulis KC.
  TITLE     Apocrine glands are bystanders in hidradenitis suppurativa and
            their involvement is gender specific
  JOURNAL   J Eur Acad Dermatol Venereol 34 (7), 1555-1563 (2020)
   PUBMED   32031713
REFERENCE   2  (residues 1 to 1349)
  AUTHORS   Cai DC, Fonteijn H, Guadalupe T, Zwiers M, Wittfeld K, Teumer A,
            Hoogman M, Arias-Vasquez A, Yang Y, Buitelaar J, Fernandez G,
            Brunner HG, van Bokhoven H, Franke B, Hegenscheid K, Homuth G,
            Fisher SE, Grabe HJ, Francks C and Hagoort P.
  TITLE     A genome-wide search for quantitative trait loci affecting the
            cortical surface area and thickness of Heschl's gyrus
  JOURNAL   Genes Brain Behav 13 (7), 675-685 (2014)
   PUBMED   25130324
REFERENCE   3  (residues 1 to 1349)
  AUTHORS   Miura K, Mishima H, Kinoshita A, Hayashida C, Abe S, Tokunaga K,
            Masuzaki H and Yoshiura K.
  TITLE     Genome-wide association study of HPV-associated cervical cancer in
            Japanese women
  JOURNAL   J Med Virol 86 (7), 1153-1158 (2014)
   PUBMED   24700089
REFERENCE   4  (residues 1 to 1349)
  AUTHORS   Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A,
            Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V,
            Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I,
            Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat
            JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang
            W, Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd
            PM, Hayward C, Aulchenko Y, Campbell H and Rudan I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   5  (residues 1 to 1349)
  AUTHORS   Wang X, Shaffer JR, Zeng Z, Begum F, Vieira AR, Noel J, Anjomshoaa
            I, Cuenco KT, Lee MK, Beck J, Boerwinkle E, Cornelis MC, Hu FB,
            Crosslin DR, Laurie CC, Nelson SC, Doheny KF, Pugh EW, Polk DE,
            Weyant RJ, Crout R, McNeil DW, Weeks DE, Feingold E and Marazita
            ML.
  TITLE     Genome-wide association scan of dental caries in the permanent
            dentition
  JOURNAL   BMC Oral Health 12, 57 (2012)
   PUBMED   23259602
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1349)
  AUTHORS   Eriksson N, Tung JY, Kiefer AK, Hinds DA, Francke U, Mountain JL
            and Do CB.
  TITLE     Novel associations for hypothyroidism include known autoimmune risk
            loci
  JOURNAL   PLoS One 7 (4), e34442 (2012)
   PUBMED   22493691
REFERENCE   7  (residues 1 to 1349)
  AUTHORS   Wang K, Zhang H, Bloss CS, Duvvuri V, Kaye W, Schork NJ, Berrettini
            W and Hakonarson H.
  CONSRTM   Price Foundation Collaborative Group
  TITLE     A genome-wide association study on common SNPs and rare CNVs in
            anorexia nervosa
  JOURNAL   Mol Psychiatry 16 (9), 949-959 (2011)
   PUBMED   21079607
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (residues 1 to 1349)
  AUTHORS   Croteau-Chonka DC, Marvelle AF, Lange EM, Lee NR, Adair LS, Lange
            LA and Mohlke KL.
  TITLE     Genome-wide association study of anthropometric traits and evidence
            of interactions with age and study year in Filipino women
  JOURNAL   Obesity (Silver Spring) 19 (5), 1019-1027 (2011)
   PUBMED   20966902
REFERENCE   9  (residues 1 to 1349)
  AUTHORS   Yuasa I, Umetsu K, Matsusue A, Nishimukai H, Harihara S, Fukumori
            Y, Saitou N, Jin F, Chattopadhyay PK, Henke L and Henke J.
  TITLE     A Japanese-specific allele in the GALNT11 gene
  JOURNAL   Leg Med (Tokyo) 12 (4), 208-211 (2010)
   PUBMED   20547088
  REMARK    GeneRIF: Observational study of genotype prevalence. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC140826.1 and AC002382.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.149777.1, BC140826.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144120, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333190.5/ ENSP00000329638.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1349
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.13"
     Protein         1..1349
                     /product="zinc finger protein 804B"
                     /note="zinc finger 804B"
                     /calculated_mol_wt=152442
     Region          55..82
                     /region_name="zf-C2H2_jaz"
                     /note="Zinc-finger double-stranded RNA-binding; pfam12171"
                     /db_xref="CDD:432381"
     Region          985..1010
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A4D1E1.2)"
     CDS             1..1349
                     /gene="ZNF804B"
                     /coded_by="NM_181646.5:278..4327"
                     /db_xref="CCDS:CCDS5613.1"
                     /db_xref="GeneID:219578"
                     /db_xref="HGNC:HGNC:21958"
ORIGIN      
        1 macylvissr hlsnghyrgi kgvfrgplck ngspspdfae kkstakaled vkanfycelc
       61 dkqyhkhqef dnhinsydha hkqrlkelkq refarnvask swkdekkqek alkrlhqlae
      121 lrqqsecvsg ngpaykaprv aiekqlqqgi fpikngrkvs cmksalllkg knlpriisdk
      181 qrstmpnrhq lqsdrrclfg nqvlqtssdl snanhrtgvs ftfskkvhlk lessasvfse
      241 nteethdcnk spiyktkqta dkckccrfan kdthltkeke vnispshles vlhntisins
      301 kilqdkhdsi detledsigi hasfsksnih lsdvdftpts reketrntlk ntlencvnhp
      361 cqanasfspp niynhsdari secldefssl epseqkstvh lnpnsrienr eksldkterv
      421 sknvqrlvke acthnvaskp lpflhvqskd ghttlqwpte lllftktepc isygcnplyf
      481 dfklsrntke dhnledlkte lgkkplelkt kresqvsglt edqqkliqed yqypkpktmi
      541 anpdwekfqr kynldysdse pnkseytfsa ndlemknpkv plylntslkd cagknnssen
      601 klkeasrahw qgcrkavlnd idedlsfpsy isrfkkhkli pcsphlefed erqfnckssp
      661 ctvgghsdhg kdfsvilksn hismtskvsg cgnqrykrys pqsclsryss sldtspssms
      721 slrstcsshr fngnsrgnll cfhkrehhsv erhkrkclkh ncfylsddit kssqmqsepq
      781 kerncklwes fknekyskrr ychcrerqkl gknqqqfsgl kstriiycds nsqisctgss
      841 kkppncqgtq hdrldsysie kmyylnkskr nqeslgsphi cdlgkvrpmk cnsgniscll
      901 kncssgpset tesntaeger tpltakille rvqakkcqeq ssnveissns ckseleapsq
      961 vpctiqlaps gcnrqalpls ekiqyasesr ndqdsaiprt tekdkskssh tnnftiladt
     1021 dcdnhlskgi ihlvtesqsl nikrdattke qskpliseiq pfiqscdpvp nefpgafpsn
     1081 kytgvtdste tqedqinldl qdvsmhinhv egninsyydr tmqkpdkved glemchksis
     1141 ppliqqpitf spdeidkyki lqlqaqqhmq kqllskhlrv lpaagptafs pastvqtvpv
     1201 hqhtsittih htflqhfavs aslsshsshl piahlhplsq ahfspisfst ltptiipahp
     1261 tflaghplhl vaatpfhpsh itlqplppta fiptlfgphl npattsiihl npliqpvfqg
     1321 qdfchhscss qmqqlnevke alnvsthln
//
LOCUS       NP_001339378             496 aa            linear   PRI 25-DEC-2022
DEFINITION  DDB1- and CUL4-associated factor 4 isoform 8 [Homo sapiens].
ACCESSION   NP_001339378
VERSION     NP_001339378.1
DBSOURCE    REFSEQ: accession NM_001352449.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 496)
  AUTHORS   Liu H, Lu W, He H, Wu J, Zhang C, Gong H and Yang C.
  TITLE     Inflammation-dependent overexpression of c-Myc enhances CRL4DCAF4
            E3 ligase activity and promotes ubiquitination of ST7 in
            colitis-associated cancer
  JOURNAL   J Pathol 248 (4), 464-475 (2019)
   PUBMED   30945288
REFERENCE   2  (residues 1 to 496)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (residues 1 to 496)
  AUTHORS   Liu H, Liu Z, Wang Y, Stinchcombe TE, Owzar K, Han Y, Hung RJ,
            Brhane Y, McLaughlin J, Brennan P, Bickeboller H, Rosenberger A,
            Houlston RS, Caporaso N, Landi MT, Bruske I, Risch A, Wu X, Ye Y,
            Christiani DC, Amos CI and Wei Q.
  CONSRTM   Transdisciplinary Research in Cancer of the Lung (TRICL) Research
            Team
  TITLE     Functional variants in DCAF4 associated with lung cancer risk in
            European populations
  JOURNAL   Carcinogenesis 38 (5), 541-551 (2017)
   PUBMED   28383684
  REMARK    GeneRIF: our results suggest that rs12587742 is associated with an
            increased lung cancer risk, possibly by up-regulating mRNA
            expression and decreasing methylation status of DCAF4.
REFERENCE   4  (residues 1 to 496)
  AUTHORS   Mangino M, Christiansen L, Stone R, Hunt SC, Horvath K, Eisenberg
            DT, Kimura M, Petersen I, Kark JD, Herbig U, Reiner AP, Benetos A,
            Codd V, Nyholt DR, Sinnreich R, Christensen K, Nassar H, Hwang SJ,
            Levy D, Bataille V, Fitzpatrick AL, Chen W, Berenson GS, Samani NJ,
            Martin NG, Tishkoff S, Schork NJ, Kyvik KO, Dalgard C, Spector TD
            and Aviv A.
  TITLE     DCAF4, a novel gene associated with leucocyte telomere length
  JOURNAL   J Med Genet 52 (3), 157-162 (2015)
   PUBMED   25624462
  REMARK    GeneRIF: Genome-wide association (GWA) meta-analysis and de novo
            genotyping of 20 022 individuals revealed a novel association
            (p=6.4x10(-10)) between LTL and rs2535913, which lies within DCAF4
REFERENCE   5  (residues 1 to 496)
  AUTHORS   Cho SH, Park BL, Shin SW, Heo JS, Park JS, Park SW, Jang AS, Chung
            IY, Shin HD and Park CS.
  TITLE     Association between WDR21A polymorphisms and airway responsiveness
            to inhaled corticosteroids in asthmatic patients
  JOURNAL   Pharmacogenet Genomics 22 (5), 327-335 (2012)
   PUBMED   22366774
  REMARK    GeneRIF: The minor allele of WDR21A may induce a good response to
            inhaled corticosteroids possibly through competition with the
            Gbeta(1) proteins for binding to GRs
REFERENCE   6  (residues 1 to 496)
  AUTHORS   Li T, Robert EI, van Breugel PC, Strubin M and Zheng N.
  TITLE     A promiscuous alpha-helical motif anchors viral hijackers and
            substrate receptors to the CUL4-DDB1 ubiquitin ligase machinery
  JOURNAL   Nat Struct Mol Biol 17 (1), 105-111 (2010)
   PUBMED   19966799
REFERENCE   7  (residues 1 to 496)
  AUTHORS   Jin J, Arias EE, Chen J, Harper JW and Walter JC.
  TITLE     A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2,
            which is required for S phase destruction of the replication factor
            Cdt1
  JOURNAL   Mol Cell 23 (5), 709-721 (2006)
   PUBMED   16949367
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007160.3 and AL442663.3.
            
            Summary: This gene encodes a WD repeat-containing protein that
            interacts with the Cul4-Ddb1 E3 ligase macromolecular complex.
            Multiple alternatively spliced transcript variants have been found
            for this gene. [provided by RefSeq, Jul 2009].
            
            Transcript Variant: This variant (8) encodes the longest isoform
            (8).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.85070.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.2"
     Protein         1..496
                     /product="DDB1- and CUL4-associated factor 4 isoform 8"
                     /note="WD repeat domain 21A; WD repeat-containing protein
                     21A"
                     /calculated_mol_wt=55634
     Region          1..66
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WV16.3)"
     Region          286..323
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <316..443
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          329..368
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          369..408
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WV16.3)"
     Region          374..410
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          411..452
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WV16.3)"
     Region          418..454
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..496
                     /gene="DCAF4"
                     /gene_synonym="WDR21; WDR21A"
                     /coded_by="NM_001352449.2:253..1743"
                     /note="isoform 8 is encoded by transcript variant 8"
                     /db_xref="GeneID:26094"
                     /db_xref="HGNC:HGNC:20229"
                     /db_xref="MIM:616372"
ORIGIN      
        1 mnksrwqsrr rhgrrshqqn pwfrlrdsed rsdsraaqpa hdsghgddes pstssgtagt
       61 ssvpelpgfy fdpekkryfr llpghnncnp ltkesirqke meskrlrllq eedrrkkiar
      121 mgfnassmlr ksqlgflnvt nychlahelr lscmerkkvq irsmdpsala sdrfnlilad
      181 tnsdrlftvn dvkvggskyg iinlqslktp tlkvfmhenl yftnrkvnsv cwaslnhlds
      241 hillclmgla etpgcatllp aslfvnshpa gidrpgmlcs fripgawsca wslniqannc
      301 fstglsrrvl ltnvvtghrq sfgtnsdvla qqfalmapll fngcrsgeif aidlrcgnqg
      361 kgwkatrlfh dsavtsvril qdeqylmasd magkiklwdl rttkcvrqye ghvneyaylp
      421 lhvheeegil vavgqdcytr iwslhdarll rtipspypas kadipsvafs srlggsrgap
      481 gllmavgqdl ycysys
//
LOCUS       NP_001307947             128 aa            linear   PRI 25-DEC-2022
DEFINITION  ubiquitin-60S ribosomal protein L40 isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_001307947
VERSION     NP_001307947.1
DBSOURCE    REFSEQ: accession NM_001321018.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 128)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 128)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 128)
  AUTHORS   Zhou Q, Hou Z, Zuo S, Zhou X, Feng Y, Sun Y and Yuan X.
  TITLE     LUCAT1 promotes colorectal cancer tumorigenesis by targeting the
            ribosomal protein L40-MDM2-p53 pathway through binding with UBA52
  JOURNAL   Cancer Sci 110 (4), 1194-1207 (2019)
   PUBMED   30690837
  REMARK    GeneRIF: our findings indicate that suppression of LUCAT1 induces
            CRC cell cycle arrest and apoptosis by binding UBA52 and activating
            the RPL40-MDM2-p53 pathway. These results implicate LUCAT1 as a
            potential prognostic biomarker and therapeutic target for CRC.
REFERENCE   4  (residues 1 to 128)
  AUTHORS   Kobayashi M, Oshima S, Maeyashiki C, Nibe Y, Otsubo K, Matsuzawa Y,
            Nemoto Y, Nagaishi T, Okamoto R, Tsuchiya K, Nakamura T and
            Watanabe M.
  TITLE     The ubiquitin hybrid gene UBA52 regulates ubiquitination of
            ribosome and sustains embryonic development
  JOURNAL   Sci Rep 6, 36780 (2016)
   PUBMED   27829658
  REMARK    GeneRIF: UBA52 supplies RPL40 and ubiquitin simultaneously to the
            ribosome.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 128)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   6  (residues 1 to 128)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   7  (residues 1 to 128)
  AUTHORS   Baker RT and Board PG.
  TITLE     The human ubiquitin/52-residue ribosomal protein fusion gene
            subfamily (UbA52) is composed primarily of processed pseudogenes
  JOURNAL   Genomics 14 (2), 520-522 (1992)
   PUBMED   1330885
REFERENCE   8  (residues 1 to 128)
  AUTHORS   Baker RT and Board PG.
  TITLE     The human ubiquitin-52 amino acid fusion protein gene shares
            several structural features with mammalian ribosomal protein genes
  JOURNAL   Nucleic Acids Res 19 (5), 1035-1040 (1991)
   PUBMED   1850507
REFERENCE   9  (residues 1 to 128)
  AUTHORS   Monia BP, Ecker DJ, Jonnalagadda S, Marsh J, Gotlib L, Butt TR and
            Crooke ST.
  TITLE     Gene synthesis, expression, and processing of human ubiquitin
            carboxyl extension proteins
  JOURNAL   J Biol Chem 264 (7), 4093-4103 (1989)
   PUBMED   2537304
REFERENCE   10 (residues 1 to 128)
  AUTHORS   Salvesen,G., Lloyd,C. and Farley,D.
  TITLE     cDNA encoding a human homolog of yeast ubiquitin 1
  JOURNAL   Nucleic Acids Res 15 (13), 5485 (1987)
   PUBMED   3037496
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005253.1, BG035502.1,
            CD242660.1, BQ428515.1, AF545864.1 and BU677484.1.
            
            Summary: Ubiquitin is a highly conserved nuclear and cytoplasmic
            protein that has a major role in targeting cellular proteins for
            degradation by the 26S proteosome. It is also involved in the
            maintenance of chromatin structure, the regulation of gene
            expression, and the stress response. Ubiquitin is synthesized as a
            precursor protein consisting of either polyubiquitin chains or a
            single ubiquitin moiety fused to an unrelated protein. This gene
            encodes a fusion protein consisting of ubiquitin at the N terminus
            and ribosomal protein L40 at the C terminus, a C-terminal extension
            protein (CEP). Multiple processed pseudogenes derived from this
            gene are present in the genome. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.237223.1,
                                           SRR1803611.93686.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..128
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     Protein         1..128
                     /product="ubiquitin-60S ribosomal protein L40 isoform 1
                     precursor"
                     /note="ubiquitin-52 amino acid fusion protein; ubiquitin
                     carboxyl extension protein 52; ubiquitin-CEP52;
                     ubiquitin-60S ribosomal protein L40"
                     /calculated_mol_wt=14597
     mat_peptide     1..76
                     /product="Ubiquitin. /id=PRO_0000396433"
                     /note="propagated from UniProtKB/Swiss-Prot (P62987.2)"
                     /calculated_mol_wt=8565
     Region          1..76
                     /region_name="Ubl_ubiquitin"
                     /note="ubiquitin-like (Ubl) domain found in ubiquitin;
                     cd01803"
                     /db_xref="CDD:340501"
     Site            order(6..9,11,34..37,40,42,44,46..49,68..76)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:340501"
     Site            order(8..12,31..35,40,42,44,46..49,68,70..76)
                     /site_type="other"
                     /note="E1 interaction site [polypeptide binding]"
                     /db_xref="CDD:340501"
     Site            27
                     /site_type="other"
                     /note="key conserved lysine K27"
                     /db_xref="CDD:340501"
     Site            54
                     /site_type="other"
                     /note="Interacts with activating enzyme; propagated from
                     UniProtKB/Swiss-Prot (P62987.2)"
     Site            65
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PINK1.
                     /evidence=ECO:0000269|PubMed:24660806,
                     ECO:0000269|PubMed:24751536, ECO:0000269|PubMed:24784582,
                     ECO:0000269|PubMed:25474007, ECO:0000269|PubMed:25527291;
                     propagated from UniProtKB/Swiss-Prot (P62987.2)"
     Site            68
                     /site_type="other"
                     /note="Essential for function; propagated from
                     UniProtKB/Swiss-Prot (P62987.2)"
     Site            72
                     /site_type="other"
                     /note="Interacts with activating enzyme; propagated from
                     UniProtKB/Swiss-Prot (P62987.2)"
     mat_peptide     77..128
                     /product="60S ribosomal protein L40. /id=PRO_0000396434"
                     /note="propagated from UniProtKB/Swiss-Prot (P62987.2)"
                     /calculated_mol_wt=6182
     Region          79..126
                     /region_name="Ribosomal_L40e"
                     /note="Ribosomal L40e family; pfam01020"
                     /db_xref="CDD:395807"
     Site            98
                     /site_type="methylation"
                     /note="N6,N6,N6-trimethyllysine.
                     /evidence=ECO:0000250|UniProtKB:P62986; propagated from
                     UniProtKB/Swiss-Prot (P62987.2)"
     CDS             1..128
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
                     /coded_by="NM_001321018.2:760..1146"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 4"
                     /db_xref="CCDS:CCDS12382.1"
                     /db_xref="GeneID:7311"
                     /db_xref="HGNC:HGNC:12458"
                     /db_xref="MIM:191321"
ORIGIN      
        1 mqifvktltg ktitleveps dtienvkaki qdkegippdq qrlifagkql edgrtlsdyn
       61 iqkestlhlv lrlrggiiep slrqlaqkyn cdkmicrkcy arlhpravnc rkkkcghtnn
      121 lrpkkkvk
//
LOCUS       NP_057542                390 aa            linear   PRI 25-DEC-2022
DEFINITION  protein HGH1 homolog [Homo sapiens].
ACCESSION   NP_057542 XP_942786
VERSION     NP_057542.2
DBSOURCE    REFSEQ: accession NM_016458.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 390)
  AUTHORS   Van Damme P, Lasa M, Polevoda B, Gazquez C, Elosegui-Artola A, Kim
            DS, De Juan-Pardo E, Demeyer K, Hole K, Larrea E, Timmerman E,
            Prieto J, Arnesen T, Sherman F, Gevaert K and Aldabe R.
  TITLE     N-terminal acetylome analyses and functional insights of the
            N-terminal acetyltransferase NatB
  JOURNAL   Proc Natl Acad Sci U S A 109 (31), 12449-12454 (2012)
   PUBMED   22814378
REFERENCE   2  (residues 1 to 390)
  AUTHORS   Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T,
            Bennett KL, Superti-Furga G and Colinge J.
  TITLE     Initial characterization of the human central proteome
  JOURNAL   BMC Syst Biol 5, 17 (2011)
   PUBMED   21269460
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 390)
  AUTHORS   Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ,
            Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S and Mann M.
  TITLE     Quantitative phosphoproteomics reveals widespread full
            phosphorylation site occupancy during mitosis
  JOURNAL   Sci Signal 3 (104), ra3 (2010)
   PUBMED   20068231
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 390)
  AUTHORS   Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ and Mohammed
            S.
  TITLE     Lys-N and trypsin cover complementary parts of the phosphoproteome
            in a refined SCX-based approach
  JOURNAL   Anal Chem 81 (11), 4493-4501 (2009)
   PUBMED   19413330
REFERENCE   5  (residues 1 to 390)
  AUTHORS   Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge
            SJ and Gygi SP.
  TITLE     A quantitative atlas of mitotic phosphorylation
  JOURNAL   Proc Natl Acad Sci U S A 105 (31), 10762-10767 (2008)
   PUBMED   18669648
REFERENCE   6  (residues 1 to 390)
  AUTHORS   Nusbaum C, Mikkelsen TS, Zody MC, Asakawa S, Taudien S, Garber M,
            Kodira CD, Schueler MG, Shimizu A, Whittaker CA, Chang JL, Cuomo
            CA, Dewar K, FitzGerald MG, Yang X, Allen NR, Anderson S, Asakawa
            T, Blechschmidt K, Bloom T, Borowsky ML, Butler J, Cook A, Corum B,
            DeArellano K, DeCaprio D, Dooley KT, Dorris L 3rd, Engels R,
            Glockner G, Hafez N, Hagopian DS, Hall JL, Ishikawa SK, Jaffe DB,
            Kamat A, Kudoh J, Lehmann R, Lokitsang T, Macdonald P, Major JE,
            Matthews CD, Mauceli E, Menzel U, Mihalev AH, Minoshima S, Murayama
            Y, Naylor JW, Nicol R, Nguyen C, O'Leary SB, O'Neill K, Parker SC,
            Polley A, Raymond CK, Reichwald K, Rodriguez J, Sasaki T,
            Schilhabel M, Siddiqui R, Smith CL, Sneddon TP, Talamas JA, Tenzin
            P, Topham K, Venkataraman V, Wen G, Yamazaki S, Young SK, Zeng Q,
            Zimmer AR, Rosenthal A, Birren BW, Platzer M, Shimizu N and Lander
            ES.
  TITLE     DNA sequence and analysis of human chromosome 8
  JOURNAL   Nature 439 (7074), 331-335 (2006)
   PUBMED   16421571
REFERENCE   7  (residues 1 to 390)
  AUTHORS   Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H,
            Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff
            S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksoz E, Droege A,
            Krobitsch S, Korn B, Birchmeier W, Lehrach H and Wanker EE.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC003035.1, BC015471.1, AW002157.1 and AC104592.6.
            On or before Mar 4, 2006 this sequence version replaced
            XP_942786.1, NP_057542.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC003035.1, SRR1163658.380940.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000347708.5/ ENSP00000321320.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..390
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..390
                     /product="protein HGH1 homolog"
                     /note="brain protein 16; protein FAM203A; family with
                     sequence similarity 203, member B; protein FAM203B; brain
                     protein 16-like; family with sequence similarity 203,
                     member A"
                     /calculated_mol_wt=41998
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylglycine. /evidence=ECO:0000269|Ref.3,
                     ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q9BTY7.1)"
     Site            17
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BTY7.1)"
     Region          <155..287
                     /region_name="DUF383"
                     /note="Domain of unknown function (DUF383); pfam04063"
                     /db_xref="CDD:427685"
     Site            214
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BTY7.1)"
     Region          292..346
                     /region_name="DUF384"
                     /note="Domain of unknown function (DUF384); pfam04064"
                     /db_xref="CDD:427686"
     Region          371..390
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BTY7.1)"
     Site            388
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BTY7.1)"
     CDS             1..390
                     /gene="HGH1"
                     /gene_synonym="BRP16; BRP16L; C8orf30A; C8orf30B; FAM203A;
                     FAM203B"
                     /coded_by="NM_016458.4:63..1235"
                     /db_xref="CCDS:CCDS6417.1"
                     /db_xref="GeneID:51236"
                     /db_xref="HGNC:HGNC:24161"
ORIGIN      
        1 mgeagagaga sggpeaspea evvkllpfla pgaradlqaa avrhvlaltg cgpgrallag
       61 qaallqalme lapasapard aaralvnlaa dpglhetlla adpglparlm graldpqwpw
      121 aeeaaaalan lsrepapcaa lmaalaaaep adsglerlvr alctpgynar aplhylapll
      181 snlsqrpaar aflldpdrcv vqrllpltqy pdssvrrggv vgtlrnccfe hrhhewllgp
      241 evdilpflll plagpedfse eemerlpvdl qylppdkqre pdadirkmlv eaimlltata
      301 pgrqqvrdqg aylilrelhs wepepdvrta cekliqvlig depergmenl levqvpedve
      361 qqlqqldcre qeqlerelap epwveratpt
//
LOCUS       NP_073591                322 aa            linear   PRI 25-DEC-2022
DEFINITION  sideroflexin-1 isoform 1 [Homo sapiens].
ACCESSION   NP_073591
VERSION     NP_073591.2
DBSOURCE    REFSEQ: accession NM_022754.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 322)
  AUTHORS   Chen L, Kang Y, Jiang Y, You J, Huang C, Xu X and Chen F.
  TITLE     Overexpression of SFXN1 indicates poor prognosis and promotes tumor
            progression in lung adenocarcinoma
  JOURNAL   Pathol Res Pract 237, 154031 (2022)
   PUBMED   35878532
  REMARK    GeneRIF: Overexpression of SFXN1 indicates poor prognosis and
            promotes tumor progression in lung adenocarcinoma.
REFERENCE   2  (residues 1 to 322)
  AUTHORS   Acoba MG, Alpergin ESS, Renuse S, Fernandez-Del-Rio L, Lu YW,
            Khalimonchuk O, Clarke CF, Pandey A, Wolfgang MJ and Claypool SM.
  TITLE     The mitochondrial carrier SFXN1 is critical for complex III
            integrity and cellular metabolism
  JOURNAL   Cell Rep 34 (11), 108869 (2021)
   PUBMED   33730581
  REMARK    GeneRIF: The mitochondrial carrier SFXN1 is critical for complex
            III integrity and cellular metabolism.
REFERENCE   3  (residues 1 to 322)
  AUTHORS   Zhang Y, Yang H, Zhang Y, Shi J, Chen R and Xiao X.
  TITLE     CircSFXN1 regulates the behaviour of trophoblasts and likely
            mediates preeclampsia
  JOURNAL   Placenta 101, 115-123 (2020)
   PUBMED   32950919
  REMARK    GeneRIF: CircSFXN1 regulates the behaviour of trophoblasts and
            likely mediates preeclampsia.
REFERENCE   4  (residues 1 to 322)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 322)
  AUTHORS   Kory N, Wyant GA, Prakash G, Uit de Bos J, Bottanelli F, Pacold ME,
            Chan SH, Lewis CA, Wang T, Keys HR, Guo YE and Sabatini DM.
  TITLE     SFXN1 is a mitochondrial serine transporter required for one-carbon
            metabolism
  JOURNAL   Science 362 (6416) (2018)
   PUBMED   30442778
  REMARK    GeneRIF: SFXN1 functions as a mitochondrial serine transporter in
            one-carbon metabolism.
REFERENCE   6  (residues 1 to 322)
  AUTHORS   Giudetti AM, Sabetta S, di Summa R, Leo M, Damiano F, Siculella L
            and Gnoni GV.
  TITLE     Differential effects of coconut oil- and fish oil-enriched diets on
            tricarboxylate carrier in rat liver mitochondria
  JOURNAL   J Lipid Res 44 (11), 2135-2141 (2003)
   PUBMED   14634051
REFERENCE   7  (residues 1 to 322)
  AUTHORS   Miyake S, Yamashita T, Taniguchi M, Tamatani M, Sato K and Tohyama
            M.
  TITLE     Identification and characterization of a novel mitochondrial
            tricarboxylate carrier
  JOURNAL   Biochem Biophys Res Commun 295 (2), 463-468 (2002)
   PUBMED   12150972
REFERENCE   8  (residues 1 to 322)
  AUTHORS   Zara V, Giudetti AM, Siculella L, Palmieri F and Gnoni GV.
  TITLE     Covariance of tricarboxylate carrier activity and lipogenesis in
            liver of polyunsaturated fatty acid (n-6) fed rats
  JOURNAL   Eur J Biochem 268 (22), 5734-5739 (2001)
   PUBMED   11722557
REFERENCE   9  (residues 1 to 322)
  AUTHORS   Fleming MD, Campagna DR, Haslett JN, Trenor CC 3rd and Andrews NC.
  TITLE     A mutation in a mitochondrial transmembrane protein is responsible
            for the pleiotropic hematological and skeletal phenotype of
            flexed-tail (f/f) mice
  JOURNAL   Genes Dev 15 (6), 652-657 (2001)
   PUBMED   11274051
REFERENCE   10 (residues 1 to 322)
  AUTHORS   Kaplan RS and Mayor JA.
  TITLE     Structure, function and regulation of the tricarboxylate transport
            protein from rat liver mitochondria
  JOURNAL   J Bioenerg Biomembr 25 (5), 503-514 (1993)
   PUBMED   8132490
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP199230.1, BC063241.1, BU689165.1, AK022938.1, AC091393.3 and
            CN480623.1.
            On Oct 9, 2002 this sequence version replaced NP_073591.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC063241.1, BX648188.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000321442.10/ ENSP00000316905.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..322
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.2"
     Protein         1..322
                     /product="sideroflexin-1 isoform 1"
                     /note="tricarboxylate carrier protein"
                     /calculated_mol_wt=35488
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine. /evidence=ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     Region          10..322
                     /region_name="Mtc"
                     /note="Tricarboxylate carrier; pfam03820"
                     /db_xref="CDD:397754"
     Site            103..120
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     Site            147..167
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     Site            175..195
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     Site            229..249
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     Site            267..287
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     CDS             1..322
                     /gene="SFXN1"
                     /gene_synonym="SLC56A1; TCC"
                     /coded_by="NM_022754.7:90..1058"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS4394.1"
                     /db_xref="GeneID:94081"
                     /db_xref="HGNC:HGNC:16085"
                     /db_xref="MIM:615569"
ORIGIN      
        1 msgelppnin ikeprwdqst figranhfft vtdprnillt neqlesarki vhdyrqgivp
       61 pgltenelwr akyiydsafh pdtgekmili grmsaqvpmn mtitgcmmtf yrttpavlfw
      121 qwinqsfnav vnytnrsgda pltvnelgta yvsattgava talglnaltk hvspligrfv
      181 pfaavaaanc iniplmrqre lkvgipvtde ngnrlgesan aakqaitqvv vsrilmaapg
      241 maippfimnt lekkaflkrf pwmsapiqvg lvgfclvfat plccalfpqk ssmsvtslea
      301 elqakiqesh pelrrvyfnk gl
//
LOCUS       NP_001711                402 aa            linear   PRI 25-DEC-2022
DEFINITION  bone morphogenetic protein 8B preproprotein [Homo sapiens].
ACCESSION   NP_001711
VERSION     NP_001711.2
DBSOURCE    REFSEQ: accession NM_001720.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 402)
  AUTHORS   Skok DJ, Hauptman N, Jerala M and Zidar N.
  TITLE     Expression of Cytokine-Coding Genes BMP8B, LEFTY1 and INSL5 Could
            Distinguish between Ulcerative Colitis and Crohn's Disease
  JOURNAL   Genes (Basel) 12 (10), 1477 (2021)
   PUBMED   34680872
  REMARK    GeneRIF: Expression of Cytokine-Coding Genes BMP8B, LEFTY1 and
            INSL5 Could Distinguish between Ulcerative Colitis and Crohn's
            Disease.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 402)
  AUTHORS   Urisarri A, Gonzalez-Garcia I, Estevez-Salguero A, Pata MP, Milbank
            E, Lopez N, Mandia N, Grijota-Martinez C, Salgado CA, Nogueiras R,
            Dieguez C, Villarroya F, Fernandez-Real JM, Couce ML and Lopez M.
  TITLE     BMP8 and activated brown adipose tissue in human newborns
  JOURNAL   Nat Commun 12 (1), 5274 (2021)
   PUBMED   34489410
  REMARK    GeneRIF: BMP8 and activated brown adipose tissue in human newborns.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 402)
  AUTHORS   Vacca M, Leslie J, Virtue S, Lam BYH, Govaere O, Tiniakos D, Snow
            S, Davies S, Petkevicius K, Tong Z, Peirce V, Nielsen MJ, Ament Z,
            Li W, Kostrzewski T, Leeming DJ, Ratziu V, Allison MED, Anstee QM,
            Griffin JL, Oakley F and Vidal-Puig A.
  TITLE     Bone morphogenetic protein 8B promotes the progression of
            non-alcoholic steatohepatitis
  JOURNAL   Nat Metab 2 (6), 514-531 (2020)
   PUBMED   32694734
  REMARK    GeneRIF: Bone morphogenetic protein 8B promotes the progression of
            non-alcoholic steatohepatitis.
            GeneRIF: BMP8B is upregulated in human NASH in hepatocytes and HSC.
            The absence of BMP8B prevents HSC activation, reduces inflammation
            and affects the wound-healing responses, thereby limiting NASH
            progression.
REFERENCE   4  (residues 1 to 402)
  AUTHORS   Wu FJ, Wang YW and Luo CW.
  TITLE     Human BMP8A suppresses luteinization of rat granulosa cells via the
            SMAD1/5/8 pathway
  JOURNAL   Reproduction 159 (3), 315-324 (2020)
   PUBMED   31940275
  REMARK    GeneRIF: Human BMP8A suppresses luteinization of rat granulosa
            cells via the SMAD1/5/8 pathway.
REFERENCE   5  (residues 1 to 402)
  AUTHORS   Mahli A, Seitz T, Beckroge T, Freese K, Thasler WE, Benkert M,
            Dietrich P, Weiskirchen R, Bosserhoff A and Hellerbrand C.
  TITLE     Bone Morphogenetic Protein-8B Expression is Induced in Steatotic
            Hepatocytes and Promotes Hepatic Steatosis and Inflammation In
            Vitro
  JOURNAL   Cells 8 (5), 457 (2019)
   PUBMED   31096638
  REMARK    GeneRIF: The data indicate that BMP8B enhances different
            pathophysiological steps of non-alcoholic fatty liver disease
            (NAFLD) progression and suggest BMP8B as a promising prognostic
            marker and therapeutic target for NAFLD and, potentially, also for
            other chronic liver diseases.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 402)
  AUTHORS   Wang RN, Green J, Wang Z, Deng Y, Qiao M, Peabody M, Zhang Q, Ye J,
            Yan Z, Denduluri S, Idowu O, Li M, Shen C, Hu A, Haydon RC, Kang R,
            Mok J, Lee MJ, Luu HL and Shi LL.
  TITLE     Bone Morphogenetic Protein (BMP) signaling in development and human
            diseases
  JOURNAL   Genes Dis 1 (1), 87-105 (2014)
   PUBMED   25401122
REFERENCE   7  (residues 1 to 402)
  AUTHORS   Ying Y, Liu XM, Marble A, Lawson KA and Zhao GQ.
  TITLE     Requirement of Bmp8b for the generation of primordial germ cells in
            the mouse
  JOURNAL   Mol Endocrinol 14 (7), 1053-1063 (2000)
   PUBMED   10894154
REFERENCE   8  (residues 1 to 402)
  AUTHORS   DiLeone RJ, King JA, Storm EE, Copeland NG, Jenkins NA and Kingsley
            DM.
  TITLE     The Bmp8 gene is expressed in developing skeletal tissue and maps
            near the Achondroplasia locus on mouse chromosome 4
  JOURNAL   Genomics 40 (1), 196-198 (1997)
   PUBMED   9070944
  REMARK    GeneRIF: Reports on the mouse homolog of this gene.
REFERENCE   9  (residues 1 to 402)
  AUTHORS   Auffray C, Behar G, Bois F, Bouchier C, Da Silva C, Devignes MD,
            Duprat S, Houlgatte R, Jumeau MN, Lamy B et al.
  TITLE     [IMAGE: molecular integration of the analysis of the human genome
            and its expression]
  JOURNAL   C R Acad Sci III 318 (2), 263-272 (1995)
   PUBMED   7757816
REFERENCE   10 (residues 1 to 402)
  AUTHORS   Ozkaynak E, Schnegelsberg PN, Jin DF, Clifford GM, Warren FD, Drier
            EA and Oppermann H.
  TITLE     Osteogenic protein-2. A new member of the transforming growth
            factor-beta superfamily expressed early in embryogenesis
  JOURNAL   J Biol Chem 267 (35), 25220-25227 (1992)
   PUBMED   1460021
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL033527.26, AY303955.1,
            BC023526.2 and BC080618.1.
            On Apr 7, 2003 this sequence version replaced NP_001711.1.
            
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate each subunit of the
            disulfide-linked homodimer. The encoded protein stimulates
            thermogenesis in brown adipose tissue. Expression of this gene may
            be downregulated in pancreatic cancer. This gene may have arose
            from a gene duplication event and its gene duplicate is also
            present on chromosome 1. [provided by RefSeq, Jul 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY303955.1, BC023526.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372827.8/ ENSP00000361915.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..402
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..402
                     /product="bone morphogenetic protein 8B preproprotein"
                     /note="osteogenic protein 2; bone morphogenetic protein 8
                     (osteogenic protein 2)"
                     /calculated_mol_wt=42876
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1910
     Region          33..251
                     /region_name="TGFb_propeptide"
                     /note="TGF-beta propeptide; pfam00688"
                     /db_xref="CDD:425823"
     Site            158
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P34820.2)"
     mat_peptide     264..402
                     /product="Bone morphogenetic protein 8B.
                     /id=PRO_0000033883"
                     /note="propagated from UniProtKB/Swiss-Prot (P34820.2)"
                     /calculated_mol_wt=15672
     Region          298..402
                     /region_name="TGF_beta_BMP8"
                     /note="transforming growth factor beta (TGF-beta) like
                     domain found in bone morphogenetic protein 8A (BMP-8A), 8B
                     (BMP-8B) and similar proteins; cd19398"
                     /db_xref="CDD:381668"
     Site            order(306,308,312..313,315,325,327..329,331,346..347,
                     350..351,353,357,363,366..369,372,392..394,396,402)
                     /site_type="other"
                     /note="putative homodimer interface [polypeptide binding]"
                     /db_xref="CDD:381668"
     Site            343
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P34820.2)"
     CDS             1..402
                     /gene="BMP8B"
                     /gene_synonym="BMP8; OP2"
                     /coded_by="NM_001720.5:381..1589"
                     /db_xref="CCDS:CCDS444.1"
                     /db_xref="GeneID:656"
                     /db_xref="HGNC:HGNC:1075"
                     /db_xref="MIM:602284"
ORIGIN      
        1 mtalpgplwl lglalcalgg ggpglrpppg cpqrrlgare rrdvqreila vlglpgrprp
       61 rappaasrlp asaplfmldl yhamagddde dgapaerrlg radlvmsfvn mverdralgh
      121 qephwkefrf dltqipagea vtaaefriyk vpsihllnrt lhvsmfqvvq eqsnresdlf
      181 fldlqtlrag degwlvldvt aasdcwllkr hkdlglrlyv etedghsvdp glagllgqra
      241 prsqqpfvvt ffraspspir tpravrplrr rqpkksnelp qanrlpgifd dvhgshgrqv
      301 crrhelyvsf qdlgwldwvi apqgysayyc egecsfplds cmnatnhail qslvhlmmpd
      361 avpkaccapt klsatsvlyy dssnnvilrk hrnmvvkacg ch
//
LOCUS       NP_742081                449 aa            linear   PRI 25-DEC-2022
DEFINITION  calcium/calmodulin-dependent protein kinase type II subunit beta
            isoform 8 [Homo sapiens].
ACCESSION   NP_742081
VERSION     NP_742081.1
DBSOURCE    REFSEQ: accession NM_172084.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 449)
  AUTHORS   Nicole O and Pacary E.
  TITLE     CaMKIIbeta in Neuronal Development and Plasticity: An Emerging
            Candidate in Brain Diseases
  JOURNAL   Int J Mol Sci 21 (19), 7272 (2020)
   PUBMED   33019657
  REMARK    GeneRIF: CaMKIIbeta in Neuronal Development and Plasticity: An
            Emerging Candidate in Brain Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 449)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   3  (residues 1 to 449)
  AUTHORS   Bhattacharyya M, Lee YK, Muratcioglu S, Qiu B, Nyayapati P,
            Schulman H, Groves JT and Kuriyan J.
  TITLE     Flexible linkers in CaMKII control the balance between activating
            and inhibitory autophosphorylation
  JOURNAL   Elife 9, e53670 (2020)
   PUBMED   32149607
  REMARK    GeneRIF: Flexible linkers in CaMKII control the balance between
            activating and inhibitory autophosphorylation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 449)
  AUTHORS   Jiang X, Wang X, Ding X, Du M, Li B, Weng X, Zhang J, Li L, Tian R,
            Zhu Q, Chen S, Wang L, Liu W, Fang L, Neculai D and Sun Q.
  TITLE     FAM134B oligomerization drives endoplasmic reticulum membrane
            scission for ER-phagy
  JOURNAL   EMBO J 39 (5), e102608 (2020)
   PUBMED   31930741
REFERENCE   5  (residues 1 to 449)
  AUTHORS   Martinez-Noel G, Luck K, Kuhnle S, Desbuleux A, Szajner P, Galligan
            JT, Rodriguez D, Zheng L, Boyland K, Leclere F, Zhong Q, Hill DE,
            Vidal M and Howley PM.
  TITLE     Network Analysis of UBE3A/E6AP-Associated Proteins Provides
            Connections to Several Distinct Cellular Processes
  JOURNAL   J Mol Biol 430 (7), 1024-1050 (2018)
   PUBMED   29426014
REFERENCE   6  (residues 1 to 449)
  AUTHORS   Williams CL, Phelps SH and Porter RA.
  TITLE     Expression of Ca2+/calmodulin-dependent protein kinase types II and
            IV, and reduced DNA synthesis due to the Ca2+/calmodulin-dependent
            protein kinase inhibitor KN-62
            (1-[N,O-bis(5-isoquinolinesulfonyl)-N-methyl-L-tyrosyl]-4-phenyl
            piperazine) in small cell lung carcinoma
  JOURNAL   Biochem Pharmacol 51 (5), 707-715 (1996)
   PUBMED   8615909
REFERENCE   7  (residues 1 to 449)
  AUTHORS   Andersen DL, Tannenberg AE, Burke CJ and Dodd PR.
  TITLE     Developmental rearrangements of cortical glutamate-NMDA receptor
            binding sites in late human gestation
  JOURNAL   Brain Res Dev Brain Res 88 (2), 178-185 (1995)
   PUBMED   8665664
REFERENCE   8  (residues 1 to 449)
  AUTHORS   Penades JR, Bernal D, Revert F, Johansson C, Fresquet VJ, Cervera
            J, Wieslander J, Quinones S and Saus J.
  TITLE     Characterization and expression of multiple alternatively spliced
            transcripts of the Goodpasture antigen gene region. Goodpasture
            antibodies recognize recombinant proteins representing the
            autoantigen and one of its alternative forms
  JOURNAL   Eur J Biochem 229 (3), 754-760 (1995)
   PUBMED   7758473
REFERENCE   9  (residues 1 to 449)
  AUTHORS   Schworer CM, Colbran RJ, Keefer JR and Soderling TR.
  TITLE     Ca2+/calmodulin-dependent protein kinase II. Identification of a
            regulatory autophosphorylation site adjacent to the inhibitory and
            calmodulin-binding domains
  JOURNAL   J Biol Chem 263 (27), 13486-13489 (1988)
   PUBMED   3417668
REFERENCE   10 (residues 1 to 449)
  AUTHORS   Thiel G, Czernik AJ, Gorelick F, Nairn AC and Greengard P.
  TITLE     Ca2+/calmodulin-dependent protein kinase II: identification of
            threonine-286 as the autophosphorylation site in the alpha subunit
            associated with the generation of Ca2+-independent activity
  JOURNAL   Proc Natl Acad Sci U S A 85 (17), 6337-6341 (1988)
   PUBMED   2842767
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI550751.1, BX445032.2,
            AK290148.1, DB566810.1 and AC006454.4.
            
            Summary: The product of this gene belongs to the serine/threonine
            protein kinase family and to the Ca(2+)/calmodulin-dependent
            protein kinase subfamily. Calcium signaling is crucial for several
            aspects of plasticity at glutamatergic synapses. In mammalian
            cells, the enzyme is composed of four different chains: alpha,
            beta, gamma, and delta. The product of this gene is a beta chain.
            It is possible that distinct isoforms of this chain have different
            cellular localizations and interact differently with calmodulin.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, May 2014].
            
            Transcript Variant: This variant (8), also known as beta 7, lacks
            an in-frame segment of the coding region, compared to variant 1. It
            encodes a shorter isoform (8), also known as beta 7 subunit, that
            is missing an internal segment compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF140350.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p13"
     Protein         1..449
                     /product="calcium/calmodulin-dependent protein kinase type
                     II subunit beta isoform 8"
                     /EC_number="2.7.11.17"
                     /note="CaM kinase II beta subunit; CaM-kinase II beta
                     chain; proline rich calmodulin-dependent protein kinase;
                     calcium/calmodulin-dependent protein kinase type II
                     subunit beta; caMK-II subunit beta"
                     /calculated_mol_wt=50824
     Region          12..303
                     /region_name="STKc_CaMKII"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Calcium/calmodulin-dependent protein kinase Type II;
                     cd14086"
                     /db_xref="CDD:270988"
     Site            order(20..24,28,41,43,74,90..93,97,99,135..136,138,
                     140..141,143,156..157,160,175..179,181)
                     /site_type="active"
                     /db_xref="CDD:270988"
     Site            order(20..23,28,41,43,74,90..93,97,140..141,143,156..157)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270988"
     Site            order(24,97,99,135..136,138,140,160,175..179,181)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270988"
     Site            order(156..166,169..179)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270988"
     Region          291..301
                     /region_name="calmodulin-binding domain"
     Site            order(294,296..303)
                     /site_type="other"
                     /note="CaM binding site [polypeptide binding]"
                     /db_xref="CDD:270988"
     Region          317..444
                     /region_name="CaMKII_AD"
                     /note="Calcium/calmodulin dependent protein kinase II
                     association domain; pfam08332"
                     /db_xref="CDD:285524"
     CDS             1..449
                     /gene="CAMK2B"
                     /gene_synonym="CAM2; CAMK2; CAMKB; CaMKIIbeta; MRD54"
                     /coded_by="NM_172084.3:174..1523"
                     /note="isoform 8 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS5489.1"
                     /db_xref="GeneID:816"
                     /db_xref="HGNC:HGNC:1461"
                     /db_xref="MIM:607707"
ORIGIN      
        1 mattvtctrf tdeyqlyedi gkgafsvvrr cvklctghey aakiintkkl sardhqkler
       61 earicrllkh snivrlhdsi seegfhylvf dlvtggelfe divareyyse adashciqqi
      121 leavlhchqm gvvhrdlkpe nlllaskckg aavkladfgl aievqgdqqa wfgfagtpgy
      181 lspevlrkea ygkpvdiwac gvilyillvg yppfwdedqh klyqqikaga ydfpspewdt
      241 vtpeaknlin qmltinpakr itahealkhp wvcqrstvas mmhrqetvec lkkfnarrkl
      301 kgailttmla trnfsarkqe iiktteqlie avnngdfeay akicdpglts fepealgnlv
      361 egmdfhrfyf enllaknskp ihttilnphv hvigedaaci ayirltqyid gqgrprtsqs
      421 eetrvwhrrd gkwqnvhfhc sgapvaplq
//
LOCUS       NP_057049                144 aa            linear   PRI 25-DEC-2022
DEFINITION  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 [Homo
            sapiens].
ACCESSION   NP_057049
VERSION     NP_057049.5
DBSOURCE    REFSEQ: accession NM_015965.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 144)
  AUTHORS   Yang Y, Liu H, Zhao Y, Geng C, Chao L and Hao A.
  TITLE     Grim-19 deficiency promotes decidual macrophage autophagy in
            recurrent spontaneous abortion
  JOURNAL   Front Endocrinol (Lausanne) 13, 1023194 (2022)
   PUBMED   36387896
  REMARK    GeneRIF: Grim-19 deficiency promotes decidual macrophage autophagy
            in recurrent spontaneous abortion.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 144)
  AUTHORS   Huang Y, Zhao Y, Liu H, Yang Y, Cheng L, Deng X and Chao L.
  TITLE     Decreased expression of GRIM-19 induces autophagy through the
            AMPK/ULK1 signaling pathway during adenomyosisdagger
  JOURNAL   Biol Reprod 107 (4), 956-966 (2022)
   PUBMED   35908189
  REMARK    GeneRIF: Decreased expression of GRIM-19 induces autophagy through
            the AMPK/ULK1 signaling pathway during adenomyosisdagger.
REFERENCE   3  (residues 1 to 144)
  AUTHORS   Kurane T, Matsunaga T, Ida T, Sawada K, Nishimura A, Fukui M,
            Umemura M, Nakayama M, Ohara N, Matsumoto S, Akaike T, Matsuzaki G
            and Takaesu G.
  TITLE     GRIM-19 is a target of mycobacterial Zn2+ metalloprotease 1 and
            indispensable for NLRP3 inflammasome activation
  JOURNAL   FASEB J 36 (1), e22096 (2022)
   PUBMED   34907600
  REMARK    GeneRIF: GRIM-19 is a target of mycobacterial Zn(2+)
            metalloprotease 1 and indispensable for NLRP3 inflammasome
            activation.
REFERENCE   4  (residues 1 to 144)
  AUTHORS   Lu H and Cao X.
  TITLE     GRIM-19 is essential for maintenance of mitochondrial membrane
            potential
  JOURNAL   Mol Biol Cell 19 (5), 1893-1902 (2008)
   PUBMED   18287540
  REMARK    GeneRIF: GRIM-19 is required for electron transfer activity of
            complex I, and disruption of mitochondrial transmembrane potential
            by GRIM-19 mutants enhances the cells' sensitivity to apoptotic
            stimuli.
REFERENCE   5  (residues 1 to 144)
  AUTHORS   Yeo WM, Isegawa Y and Chow VT.
  TITLE     The U95 protein of human herpesvirus 6B interacts with human
            GRIM-19: silencing of U95 expression reduces viral load and
            abrogates loss of mitochondrial membrane potential
  JOURNAL   J Virol 82 (2), 1011-1020 (2008)
   PUBMED   17928352
  REMARK    GeneRIF: results indicate that the high affinity between U95 early
            viral protein and GRIM-19 may be closely linked to the detrimental
            effect of HHV-6B infection on mitochondria.
REFERENCE   6  (residues 1 to 144)
  AUTHORS   Kalakonda S, Nallar SC, Lindner DJ, Hu J, Reddy SP and Kalvakolanu
            DV.
  TITLE     Tumor-suppressive activity of the cell death activator GRIM-19 on a
            constitutively active signal transducer and activator of
            transcription 3
  JOURNAL   Cancer Res 67 (13), 6212-6220 (2007)
   PUBMED   17616678
  REMARK    GeneRIF: GRIM-19 suppresses constitutive STAT3-induced cellular
            transformation in vitro and in vivo by down-regulating the
            expression of a number of cellular genes involved in cell
            proliferation and apoptosis
REFERENCE   7  (residues 1 to 144)
  AUTHORS   Murray J, Zhang B, Taylor SW, Oglesbee D, Fahy E, Marusich MF,
            Ghosh SS and Capaldi RA.
  TITLE     The subunit composition of the human NADH dehydrogenase obtained by
            rapid one-step immunopurification
  JOURNAL   J Biol Chem 278 (16), 13619-13622 (2003)
   PUBMED   12611891
REFERENCE   8  (residues 1 to 144)
  AUTHORS   Angell JE, Lindner DJ, Shapiro PS, Hofmann ER and Kalvakolanu DV.
  TITLE     Identification of GRIM-19, a novel cell death-regulatory gene
            induced by the interferon-beta and retinoic acid combination, using
            a genetic approach
  JOURNAL   J Biol Chem 275 (43), 33416-33426 (2000)
   PUBMED   10924506
REFERENCE   9  (residues 1 to 144)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   10 (residues 1 to 144)
  AUTHORS   Chidambaram NV, Angell JE, Ling W, Hofmann ER and Kalvakolanu DV.
  TITLE     Chromosomal localization of human GRIM-19, a novel IFN-beta and
            retinoic acid-activated regulator of cell death
  JOURNAL   J Interferon Cytokine Res 20 (7), 661-665 (2000)
   PUBMED   10926209
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC009189.2 and BG705222.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 8, 2009 this sequence version replaced NP_057049.4.
            
            Summary: This gene encodes a subunit of the mitochondrial membrane
            respiratory chain NADH dehydrogenase (Complex I), which functions
            in the transfer of electrons from NADH to the respiratory chain.
            The protein is required for complex I assembly and electron
            transfer activity. The protein binds the signal transducers and
            activators of transcription 3 (STAT3) transcription factor, and can
            function as a tumor suppressor. The human protein purified from
            mitochondria migrates at approximately 16 kDa. Transcripts
            originating from an upstream promoter and capable of expressing a
            protein with a longer N-terminus have been found, but their
            biological validity has not been determined. [provided by RefSeq,
            Oct 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF261134.1, SRR5189667.105639.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 12611891, 17928352;
                                                  reported by MitoCarta
            MANE Ensembl match                 :: ENST00000507754.9/
                                                  ENSP00000423673.1
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..144
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     Protein         1..144
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex subunit 13"
                     /EC_number="7.1.1.2"
                     /note="complex I B16.6 subunit; cell death-regulatory
                     protein GRIM19; CI-B16.6; complex I-B16.6; cell death
                     regulatory protein GRIM-19; NADH-ubiquinone oxidoreductase
                     B16.6 subunit; gene associated with retinoic and
                     IFN-induced mortality 19 protein; gene associated with
                     retinoic and interferon-induced mortality 19 protein; NADH
                     dehydrogenase (ubiquinone) 1 alpha subcomplex, 13"
                     /calculated_mol_wt=16567
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000250|UniProtKB:Q95KV7; propagated from
                     UniProtKB/Swiss-Prot (Q9P0J0.3)"
     Region          5..128
                     /region_name="GRIM-19"
                     /note="GRIM-19 protein; pfam06212"
                     /db_xref="CDD:428828"
     Site            30..51
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0J0.3)"
     Region          102..144
                     /region_name="Important for inducing cell death"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0J0.3)"
     CDS             1..144
                     /gene="NDUFA13"
                     /gene_synonym="B16.6; CDA016; CGI-39; GRIM-19; GRIM19;
                     MC1DN28"
                     /coded_by="NM_015965.7:15..449"
                     /db_xref="CCDS:CCDS12404.2"
                     /db_xref="GeneID:51079"
                     /db_xref="HGNC:HGNC:17194"
                     /db_xref="MIM:609435"
ORIGIN      
        1 maaskvkqdm pppggygpid ykrnlprrgl sgysmlaigi gtliyghwsi mkwnrerrrl
       61 qiedfearia llpllqaetd rrtlqmlren leeeaiimkd vpdwkvgesv fhttrwvppl
      121 igelyglrtt eealhashgf mwyt
//
LOCUS       NP_115717                399 aa            linear   PRI 25-DEC-2022
DEFINITION  protein DDI1 homolog 2 [Homo sapiens].
ACCESSION   NP_115717 XP_496347
VERSION     NP_115717.3
DBSOURCE    REFSEQ: accession NM_032341.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 399)
  AUTHORS   Op M, Ribeiro ST, Chavarria C, De Gassart A, Zaffalon L and
            Martinon F.
  TITLE     The aspartyl protease DDI2 drives adaptation to proteasome
            inhibition in multiple myeloma
  JOURNAL   Cell Death Dis 13 (5), 475 (2022)
   PUBMED   35589686
  REMARK    GeneRIF: The aspartyl protease DDI2 drives adaptation to proteasome
            inhibition in multiple myeloma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 399)
  AUTHORS   Chen T, Ho M, Briere J, Moscvin M, Czarnecki PG, Anderson KC,
            Blackwell TK and Bianchi G.
  TITLE     Multiple myeloma cells depend on the DDI2/NRF1-mediated proteasome
            stress response for survival
  JOURNAL   Blood Adv 6 (2), 429-440 (2022)
   PUBMED   34649278
  REMARK    GeneRIF: Multiple myeloma cells depend on the DDI2/NRF1-mediated
            proteasome stress response for survival.
REFERENCE   3  (residues 1 to 399)
  AUTHORS   Dirac-Svejstrup AB, Walker J, Faull P, Encheva V, Akimov V, Puglia
            M, Perkins D, Kumper S, Hunjan SS, Blagoev B, Snijders AP, Powell
            DJ and Svejstrup JQ.
  TITLE     DDI2 Is a Ubiquitin-Directed Endoprotease Responsible for Cleavage
            of Transcription Factor NRF1
  JOURNAL   Mol Cell 79 (2), 332-341 (2020)
   PUBMED   32521225
  REMARK    GeneRIF: DDI2 Is a Ubiquitin-Directed Endoprotease Responsible for
            Cleavage of Transcription Factor NRF1.
REFERENCE   4  (residues 1 to 399)
  AUTHORS   Kottemann MC, Conti BA, Lach FP and Smogorzewska A.
  TITLE     Removal of RTF2 from Stalled Replisomes Promotes Maintenance of
            Genome Integrity
  JOURNAL   Mol Cell 69 (1), 24-35 (2018)
   PUBMED   29290612
REFERENCE   5  (residues 1 to 399)
  AUTHORS   Sha Z and Goldberg AL.
  TITLE     Reply to Vangala et al.: Complete inhibition of the proteasome
            reduces new proteasome production by causing Nrf1 aggregation
  JOURNAL   Curr Biol 26 (18), R836-R837 (2016)
   PUBMED   27676298
REFERENCE   6  (residues 1 to 399)
  AUTHORS   Koizumi S, Irie T, Hirayama S, Sakurai Y, Yashiroda H, Naguro I,
            Ichijo H, Hamazaki J and Murata S.
  TITLE     The aspartyl protease DDI2 activates Nrf1 to compensate for
            proteasome dysfunction
  JOURNAL   Elife 5, e18357 (2016)
   PUBMED   27528193
  REMARK    GeneRIF: Here the authors show that the aspartyl protease
            DNA-damage inducible 1 homolog 2 (DDI2) is required to cleave and
            activate Nrf1.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 399)
  AUTHORS   Siva M, Svoboda M, Veverka V, Trempe JF, Hofmann K, Kozisek M,
            Hexnerova R, Sedlak F, Belza J, Brynda J, Sacha P, Hubalek M,
            Starkova J, Flaisigova I, Konvalinka J and Saskova KG.
  TITLE     Human DNA-Damage-Inducible 2 Protein Is Structurally and
            Functionally Distinct from Its Yeast Ortholog
  JOURNAL   Sci Rep 6, 30443 (2016)
   PUBMED   27461074
  REMARK    GeneRIF: the 3D structures of the human Ddi2 UBL and RVP domains
            were solved and identified a new helical domain that extends on
            either side of the Rretroviral protease-like dimer.
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 399)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK293006.1, BC006011.1, AL598343.1, AK057374.1 and AL121992.24.
            On or before Apr 30, 2005 this sequence version replaced
            XP_496347.1, NP_115717.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK293006.1, SRR1803612.204530.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000480945.6/ ENSP00000417748.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     Protein         1..399
                     /product="protein DDI1 homolog 2"
                     /note="DNA-damage inducible protein 2 (DDI2); DDI1,
                     DNA-damage inducible 1, homolog 2"
                     /calculated_mol_wt=44392
     Region          1..76
                     /region_name="Ubl_Ddi1_like"
                     /note="ubiquitin-like (Ubl) domain found in the eukaryotic
                     Ddi1 family; cd01796"
                     /db_xref="CDD:340494"
     Region          99..134
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TDH0.1)"
     Site            104
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5TDH0.1)"
     Site            106
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5TDH0.1)"
     Site            121
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5TDH0.1)"
     Site            128
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q5TDH0.1)"
     Site            150
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5TDH0.1)"
     Site            194
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5TDH0.1)"
     Region          221..343
                     /region_name="RP_DDI"
                     /note="retropepsin-like domain of DNA damage inducible
                     protein; cd05479"
                     /db_xref="CDD:133146"
     Site            252..254
                     /site_type="active"
                     /note="catalytic motif [active]"
                     /db_xref="CDD:133146"
     Site            252
                     /site_type="active"
                     /note="Catalytic residue [active]"
                     /db_xref="CDD:133146"
     Region          376..395
                     /region_name="Ubiquitin-binding.
                     /evidence=ECO:0000305|PubMed:27461074"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TDH0.1)"
     CDS             1..399
                     /gene="DDI2"
                     /coded_by="NM_032341.5:214..1413"
                     /db_xref="CCDS:CCDS30607.1"
                     /db_xref="GeneID:84301"
                     /db_xref="HGNC:HGNC:24578"
ORIGIN      
        1 mlltvycvrr dlsevtfslq vdadfelhnf ralcelesgi paaesqivya erpltdnhrs
       61 lasyglkdgd vvilrqkena dprppvqfpn lpridfssia vpgtssprqr qppgtqqshs
      121 spgeitsspq gldnpallrd mllanphels llkernppla eallsgdlek fsrvlveqqq
      181 drarreqeri rlfsadpfdl eaqakieedi rqqnieenmt iameeapesf gqvvmlyinc
      241 kvnghpvkaf vdsgaqmtim sqacaercni mrlvdrrwag iakgvgtqki igrvhlaqvq
      301 iegdflpcsf sileeqpmdm llgldmlkrh qcsidlkknv lvigttgsqt tflpegelpe
      361 carlaygagr edvrpeeiad qelaealqks aedaerqkp
//
LOCUS       NP_776252                240 aa            linear   PRI 25-DEC-2022
DEFINITION  keratinocyte-associated protein 3 [Homo sapiens].
ACCESSION   NP_776252
VERSION     NP_776252.2
DBSOURCE    REFSEQ: accession NM_173853.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 240)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 240)
  AUTHORS   Weissglas-Volkov D, Aguilar-Salinas CA, Nikkola E, Deere KA,
            Cruz-Bautista I, Arellano-Campos O, Munoz-Hernandez LL,
            Gomez-Munguia L, Ordonez-Sanchez ML, Reddy PM, Lusis AJ, Matikainen
            N, Taskinen MR, Riba L, Cantor RM, Sinsheimer JS, Tusie-Luna T and
            Pajukanta P.
  TITLE     Genomic study in Mexicans identifies a new locus for triglycerides
            and refines European lipid loci
  JOURNAL   J Med Genet 50 (5), 298-308 (2013)
   PUBMED   23505323
REFERENCE   3  (residues 1 to 240)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   4  (residues 1 to 240)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   5  (residues 1 to 240)
  AUTHORS   Bonkobara M, Das A, Takao J, Cruz PD and Ariizumi K.
  TITLE     Identification of novel genes for secreted and membrane-anchored
            proteins in human keratinocytes
  JOURNAL   Br J Dermatol 148 (4), 654-664 (2003)
   PUBMED   12752121
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC101689.1 and AY157576.1.
            On Dec 4, 2009 this sequence version replaced NP_776252.1.
            
            Transcript Variant: This variant (2) differs in the 3' UTR compared
            to variant 1. Variants 1 - 3 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY157576.1, ERR279835.232.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000288873.7/ ENSP00000288873.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     Protein         1..240
                     /product="keratinocyte-associated protein 3"
                     /note="keratinocytes associated protein 3"
                     /calculated_mol_wt=25496
     Region          19..206
                     /region_name="BCLP"
                     /note="Beta-casein like protein; pfam12304"
                     /db_xref="CDD:432464"
     Site            21..41
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53RY4.1)"
     Site            63..83
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53RY4.1)"
     Site            94..114
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53RY4.1)"
     Site            163..183
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53RY4.1)"
     CDS             1..240
                     /gene="KRTCAP3"
                     /gene_synonym="KCP3"
                     /coded_by="NM_173853.4:33..755"
                     /db_xref="CCDS:CCDS1754.1"
                     /db_xref="GeneID:200634"
                     /db_xref="HGNC:HGNC:28943"
                     /db_xref="MIM:619261"
ORIGIN      
        1 mrrcslcafd aargprrlmr vglalilvgh vnlllgavlh gtvlrhvanp rgavtpeytv
       61 anvisvgsgl lsvsvglval lasrnllrpp lhwvllalal vnlllsvacs lglllavslt
      121 vanggrrlia dchpglldpl vpldegpght dcpfdptriy dtalalwips llmsageaal
      181 sgyccvaalt lrgvgpcrkd glqgqleemt elespkckrq eneqlldqnq eirasqrswv
//
LOCUS       NP_054780                219 aa            linear   PRI 25-DEC-2022
DEFINITION  melanoma-associated antigen H1 [Homo sapiens].
ACCESSION   NP_054780
VERSION     NP_054780.2
DBSOURCE    REFSEQ: accession NM_014061.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 219)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 219)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 219)
  AUTHORS   Wang PC, Hu ZQ, Zhou SL, Zhan H, Zhou ZJ, Luo CB and Huang XW.
  TITLE     Downregulation of MAGE family member H1 enhances hepatocellular
            carcinoma progression and serves as a biomarker for patient
            prognosis
  JOURNAL   Future Oncol 14 (12), 1177-1186 (2018)
   PUBMED   29316827
  REMARK    GeneRIF: MAGEH1 expression was downregulated in HCC tumor tissues
            compared with adjacent normal liver tissues and in samples from
            patients with tumor recurrence. MAGEH1 reduced HCC cell
            proliferation, migration and invasion ability.
REFERENCE   4  (residues 1 to 219)
  AUTHORS   Zheng J, Li Q, Wang W, Wang Y, Fu X, Wang W, Fan L and Yan W.
  TITLE     Apoptosis-related protein-1 acts as a tumor suppressor in
            cholangiocarcinoma cells by inducing cell cycle arrest via
            downregulation of cyclin-dependent kinase subunits
  JOURNAL   Oncol Rep 35 (2), 809-816 (2016)
   PUBMED   26572808
  REMARK    GeneRIF: our data showed that Apr-1 plays a crucial role in cell
            proliferation by controlling cell cycle progression, implying a
            tumor-suppressor function of Apr-1 in cholangiocarcinoma
            carcinogenesis
REFERENCE   5  (residues 1 to 219)
  AUTHORS   Correa SC, Rocha MN, Richeti F, Kochi C, Silva E Lima LA, Magalhaes
            M and Longui CA.
  TITLE     Neonatal detection of Turner syndrome by real-time PCR gene
            quantification of the ARSE and MAGEH1 genes
  JOURNAL   Genet Mol Res 13 (4), 9068-9076 (2014)
   PUBMED   25366798
  REMARK    GeneRIF: Data indicate that the neonatal detection test sensitivity
            obtained was 95% with a positive predictive value of 1 in the
            analyses for both the arylsulfatase E (ARSE) and melanoma antigen
            family H1 (MAGEH1) genes.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 219)
  AUTHORS   Yan W, Wang WL, Zhu F, Cheng SQ, Li QL, Wang L and Wang CJ.
  TITLE     [Cloning and subcellular localization of apr-1--a new gene of tumor
            specific antigen family]
  JOURNAL   Ai Zheng 24 (2), 129-134 (2005)
   PUBMED   15694019
REFERENCE   7  (residues 1 to 219)
  AUTHORS   Goehler H, Lalowski M, Stelzl U, Waelter S, Stroedicke M, Worm U,
            Droege A, Lindenberg KS, Knoblich M, Haenig C, Herbst M, Suopanki
            J, Scherzinger E, Abraham C, Bauer B, Hasenbank R, Fritzsche A,
            Ludewig AH, Bussow K, Coleman SH, Gutekunst CA, Landwehrmeyer BG,
            Lehrach H and Wanker EE.
  TITLE     A protein interaction network links GIT1, an enhancer of huntingtin
            aggregation, to Huntington's disease
  JOURNAL   Mol Cell 15 (6), 853-865 (2004)
   PUBMED   15383276
  REMARK    Erratum:[Mol Cell. 2005 Jul 22;19(2):287. Buessow, Konrad
            [corrected to Bussow, Konrad]]
REFERENCE   8  (residues 1 to 219)
  AUTHORS   Tcherpakov M, Bronfman FC, Conticello SG, Vaskovsky A, Levy Z,
            Niinobe M, Yoshikawa K, Arenas E and Fainzilber M.
  TITLE     The p75 neurotrophin receptor interacts with multiple MAGE proteins
  JOURNAL   J Biol Chem 277 (51), 49101-49104 (2002)
   PUBMED   12414813
REFERENCE   9  (residues 1 to 219)
  AUTHORS   Chomez P, De Backer O, Bertrand M, De Plaen E, Boon T and Lucas S.
  TITLE     An overview of the MAGE gene family with the identification of all
            human members of the family
  JOURNAL   Cancer Res 61 (14), 5544-5551 (2001)
   PUBMED   11454705
REFERENCE   10 (residues 1 to 219)
  AUTHORS   Zhu F, Yan W, Zhao ZL, Chai YB, Lu F, Wang Q, Peng WD, Yang AG and
            Wang CJ.
  TITLE     Improved PCR-based subtractive hybridization strategy for cloning
            differentially expressed genes
  JOURNAL   Biotechniques 29 (2), 310-313 (2000)
   PUBMED   10948432
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF143235.4 and AA634056.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 31, 2001 this sequence version replaced NP_054780.1.
            
            Summary: This gene belongs to the non-CT (non cancer/testis)
            subgroup of the melanoma-associated antigen (MAGE) superfamily. The
            encoded protein is likely associated with apoptosis, cell cycle
            arrest, growth inhibition or cell differentiation. The protein may
            be involved in the atRA (all-trans retinoic acid) signaling through
            the STAT1-alpha (signal transducer and activator of transcription
            1-alpha) pathway. [provided by RefSeq, Aug 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: AF320912.1, AF143235.4 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000342972.3/ ENSP00000343706.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..219
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.21"
     Protein         1..219
                     /product="melanoma-associated antigen H1"
                     /note="restin; apoptosis-related protein 1; melanoma
                     antigen family H, 1; melanoma antigen family H1"
                     /calculated_mol_wt=24309
     Region          1..84
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H213.1)"
     Region          <62..173
                     /region_name="MAGE"
                     /note="MAGE family; pfam01454"
                     /db_xref="CDD:396164"
     Site            195
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q5PPP4; propagated from
                     UniProtKB/Swiss-Prot (Q9H213.1)"
     CDS             1..219
                     /gene="MAGEH1"
                     /gene_synonym="APR-1; APR1; MAGEH"
                     /coded_by="NM_014061.5:249..908"
                     /db_xref="CCDS:CCDS14369.1"
                     /db_xref="GeneID:28986"
                     /db_xref="HGNC:HGNC:24092"
                     /db_xref="MIM:300548"
ORIGIN      
        1 mprgrksrrr rnaraaeenr nnrkiqasea setpmaasvv astpeddlsg peedpstpee
       61 asttpeeass taqaqkpsvp rsnfqgtkks llmsilalif imgnsakeal vwkvlgklgm
      121 qpgrqhsifg dpkkivteef vrrgyliykp vprsspveye ffwgprahve ssklkvmhfv
      181 arvrnrcskd wpcnydwdsd ddaeveailn sgargysap
//
LOCUS       NP_001309910             261 aa            linear   PRI 26-DEC-2022
DEFINITION  sideroflexin-1 isoform 4 [Homo sapiens].
ACCESSION   NP_001309910
VERSION     NP_001309910.1
DBSOURCE    REFSEQ: accession NM_001322981.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 261)
  AUTHORS   Chen L, Kang Y, Jiang Y, You J, Huang C, Xu X and Chen F.
  TITLE     Overexpression of SFXN1 indicates poor prognosis and promotes tumor
            progression in lung adenocarcinoma
  JOURNAL   Pathol Res Pract 237, 154031 (2022)
   PUBMED   35878532
  REMARK    GeneRIF: Overexpression of SFXN1 indicates poor prognosis and
            promotes tumor progression in lung adenocarcinoma.
REFERENCE   2  (residues 1 to 261)
  AUTHORS   Acoba MG, Alpergin ESS, Renuse S, Fernandez-Del-Rio L, Lu YW,
            Khalimonchuk O, Clarke CF, Pandey A, Wolfgang MJ and Claypool SM.
  TITLE     The mitochondrial carrier SFXN1 is critical for complex III
            integrity and cellular metabolism
  JOURNAL   Cell Rep 34 (11), 108869 (2021)
   PUBMED   33730581
  REMARK    GeneRIF: The mitochondrial carrier SFXN1 is critical for complex
            III integrity and cellular metabolism.
REFERENCE   3  (residues 1 to 261)
  AUTHORS   Zhang Y, Yang H, Zhang Y, Shi J, Chen R and Xiao X.
  TITLE     CircSFXN1 regulates the behaviour of trophoblasts and likely
            mediates preeclampsia
  JOURNAL   Placenta 101, 115-123 (2020)
   PUBMED   32950919
  REMARK    GeneRIF: CircSFXN1 regulates the behaviour of trophoblasts and
            likely mediates preeclampsia.
REFERENCE   4  (residues 1 to 261)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 261)
  AUTHORS   Kory N, Wyant GA, Prakash G, Uit de Bos J, Bottanelli F, Pacold ME,
            Chan SH, Lewis CA, Wang T, Keys HR, Guo YE and Sabatini DM.
  TITLE     SFXN1 is a mitochondrial serine transporter required for one-carbon
            metabolism
  JOURNAL   Science 362 (6416) (2018)
   PUBMED   30442778
  REMARK    GeneRIF: SFXN1 functions as a mitochondrial serine transporter in
            one-carbon metabolism.
REFERENCE   6  (residues 1 to 261)
  AUTHORS   Giudetti AM, Sabetta S, di Summa R, Leo M, Damiano F, Siculella L
            and Gnoni GV.
  TITLE     Differential effects of coconut oil- and fish oil-enriched diets on
            tricarboxylate carrier in rat liver mitochondria
  JOURNAL   J Lipid Res 44 (11), 2135-2141 (2003)
   PUBMED   14634051
REFERENCE   7  (residues 1 to 261)
  AUTHORS   Miyake S, Yamashita T, Taniguchi M, Tamatani M, Sato K and Tohyama
            M.
  TITLE     Identification and characterization of a novel mitochondrial
            tricarboxylate carrier
  JOURNAL   Biochem Biophys Res Commun 295 (2), 463-468 (2002)
   PUBMED   12150972
REFERENCE   8  (residues 1 to 261)
  AUTHORS   Zara V, Giudetti AM, Siculella L, Palmieri F and Gnoni GV.
  TITLE     Covariance of tricarboxylate carrier activity and lipogenesis in
            liver of polyunsaturated fatty acid (n-6) fed rats
  JOURNAL   Eur J Biochem 268 (22), 5734-5739 (2001)
   PUBMED   11722557
REFERENCE   9  (residues 1 to 261)
  AUTHORS   Fleming MD, Campagna DR, Haslett JN, Trenor CC 3rd and Andrews NC.
  TITLE     A mutation in a mitochondrial transmembrane protein is responsible
            for the pleiotropic hematological and skeletal phenotype of
            flexed-tail (f/f) mice
  JOURNAL   Genes Dev 15 (6), 652-657 (2001)
   PUBMED   11274051
REFERENCE   10 (residues 1 to 261)
  AUTHORS   Kaplan RS and Mayor JA.
  TITLE     Structure, function and regulation of the tricarboxylate transport
            protein from rat liver mitochondria
  JOURNAL   J Bioenerg Biomembr 25 (5), 503-514 (1993)
   PUBMED   8132490
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091393.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.259529.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..261
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.2"
     Protein         1..261
                     /product="sideroflexin-1 isoform 4"
                     /note="tricarboxylate carrier protein"
                     /calculated_mol_wt=29011
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine. /evidence=ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     Region          10..>199
                     /region_name="Mtc"
                     /note="Tricarboxylate carrier; pfam03820"
                     /db_xref="CDD:427526"
     Site            103..120
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     Site            147..167
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     Site            175..195
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B4.4)"
     CDS             1..261
                     /gene="SFXN1"
                     /gene_synonym="SLC56A1; TCC"
                     /coded_by="NM_001322981.2:118..903"
                     /note="isoform 4 is encoded by transcript variant 5"
                     /db_xref="GeneID:94081"
                     /db_xref="HGNC:HGNC:16085"
                     /db_xref="MIM:615569"
ORIGIN      
        1 msgelppnin ikeprwdqst figranhfft vtdprnillt neqlesarki vhdyrqgivp
       61 pgltenelwr akyiydsafh pdtgekmili grmsaqvpmn mtitgcmmtf yrttpavlfw
      121 qwinqsfnav vnytnrsgda pltvnelgta yvsattgava talglnaltk hvspligrfv
      181 pfaavaaanc iniplmrqsh psihyehfgk eslfeevpmd ecthsswvsw llfgvcytpv
      241 lcpvssekfh vcdklggrva s
//
LOCUS       NP_001310537            1139 aa            linear   PRI 27-DEC-2022
DEFINITION  retinoblastoma-like protein 2 isoform 1 [Homo sapiens].
ACCESSION   NP_001310537 XP_011521554
VERSION     NP_001310537.1
DBSOURCE    REFSEQ: accession NM_001323608.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1139)
  AUTHORS   Nakanoh S, Kadiwala J, Pinte L, Morell CM, Lenaerts AS and Vallier
            L.
  TITLE     Simultaneous depletion of RB, RBL1 and RBL2 affects endoderm
            differentiation of human embryonic stem cells
  JOURNAL   PLoS One 17 (11), e0269122 (2022)
   PUBMED   36413521
  REMARK    GeneRIF: Simultaneous depletion of RB, RBL1 and RBL2 affects
            endoderm differentiation of human embryonic stem cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1139)
  AUTHORS   Ullah F, Khurshid N, Fatimi Q, Loidl P and Saeed M.
  TITLE     Mutations in the acetylation hotspots of Rbl2 are associated with
            increased risk of breast cancer
  JOURNAL   PLoS One 17 (4), e0266196 (2022)
   PUBMED   35385527
  REMARK    GeneRIF: Mutations in the acetylation hotspots of Rbl2 are
            associated with increased risk of breast cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1139)
  AUTHORS   Samra N, Toubiana S, Yttervik H, Tzur-Gilat A, Morani I, Itzkovich
            C, Giladi L, Abu Jabal K, Cao JZ, Godley LA, Mory A, Baris Feldman
            H, Tveten K, Selig S and Weiss K.
  TITLE     RBL2 bi-allelic truncating variants cause severe motor and
            cognitive impairment without evidence for abnormalities in DNA
            methylation or telomeric function
  JOURNAL   J Hum Genet 66 (11), 1101-1112 (2021)
   PUBMED   33980986
  REMARK    GeneRIF: RBL2 bi-allelic truncating variants cause severe motor and
            cognitive impairment without evidence for abnormalities in DNA
            methylation or telomeric function.
REFERENCE   4  (residues 1 to 1139)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 1139)
  AUTHORS   Brunet T, Radivojkov-Blagojevic M, Lichtner P, Kraus V, Meitinger T
            and Wagner M.
  TITLE     Biallelic loss-of-function variants in RBL2 in siblings with a
            neurodevelopmental disorder
  JOURNAL   Ann Clin Transl Neurol 7 (3), 390-396 (2020)
   PUBMED   32105419
  REMARK    GeneRIF: Biallelic loss-of-function variants in RBL2 in siblings
            with a neurodevelopmental disorder.
REFERENCE   6  (residues 1 to 1139)
  AUTHORS   Hijmans EM, Voorhoeve PM, Beijersbergen RL, van 't Veer LJ and
            Bernards R.
  TITLE     E2F-5, a new E2F family member that interacts with p130 in vivo
  JOURNAL   Mol Cell Biol 15 (6), 3082-3089 (1995)
   PUBMED   7760804
REFERENCE   7  (residues 1 to 1139)
  AUTHORS   Hannon GJ, Demetrick D and Beach D.
  TITLE     Isolation of the Rb-related p130 through its interaction with CDK2
            and cyclins
  JOURNAL   Genes Dev 7 (12A), 2378-2391 (1993)
   PUBMED   8253384
REFERENCE   8  (residues 1 to 1139)
  AUTHORS   Li Y, Graham C, Lacy S, Duncan AM and Whyte P.
  TITLE     The adenovirus E1A-associated 130-kD protein is encoded by a member
            of the retinoblastoma gene family and physically interacts with
            cyclins A and E
  JOURNAL   Genes Dev 7 (12A), 2366-2377 (1993)
   PUBMED   8253383
REFERENCE   9  (residues 1 to 1139)
  AUTHORS   Yeung RS, Bell DW, Testa JR, Mayol X, Baldi A, Grana X,
            Klinga-Levan K, Knudson AG and Giordano A.
  TITLE     The retinoblastoma-related gene, RB2, maps to human chromosome
            16q12 and rat chromosome 19
  JOURNAL   Oncogene 8 (12), 3465-3468 (1993)
   PUBMED   8247552
REFERENCE   10 (residues 1 to 1139)
  AUTHORS   Dyson N, Guida P, Munger K and Harlow E.
  TITLE     Homologous sequences in adenovirus E1A and human papillomavirus E7
            proteins mediate interaction with the same set of cellular proteins
  JOURNAL   J Virol 66 (12), 6893-6902 (1992)
   PUBMED   1331501
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007342.6.
            On Apr 22, 2016 this sequence version replaced XP_011521554.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.253860.1,
                                           SRR7346977.1984401.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1139
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.2"
     Protein         1..1139
                     /product="retinoblastoma-like protein 2 isoform 1"
                     /note="retinoblastoma-like protein 2; PRB2; RBR-2;
                     retinoblastoma-like 2; 130 kDa retinoblastoma-associated
                     protein; retinoblastoma-related protein 2"
                     /calculated_mol_wt=128236
     Region          1..45
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08999.3)"
     Region          44..134
                     /region_name="CYCLIN_SF"
                     /note="Cyclin box fold superfamily; cd00043"
                     /db_xref="CDD:410207"
     Region          104..239
                     /region_name="DUF3452"
                     /note="Domain of unknown function (DUF3452); pfam11934"
                     /db_xref="CDD:432200"
     Site            413
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Region          417..1024
                     /region_name="Pocket, binds E1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08999.3)"
     Region          417..616
                     /region_name="Domain A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08999.3)"
     Region          417..609
                     /region_name="RB_A"
                     /note="Retinoblastoma-associated protein A domain;
                     pfam01858"
                     /db_xref="CDD:426479"
     Site            417
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q64700; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Region          617..827
                     /region_name="Spacer"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08999.3)"
     Site            639
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:11042701; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Site            642
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q64700; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Region          654..678
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08999.3)"
     Site            662
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Region          670..>810
                     /region_name="SP1-4_N"
                     /note="N-terminal domain of transcription factor
                     Specificity Proteins (SP) 1-4; cl41773"
                     /db_xref="CDD:425404"
     Site            672
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12435635,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Site            688
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Region          810..832
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08999.3)"
     Region          828..1024
                     /region_name="Domain B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08999.3)"
     Region          835..1024
                     /region_name="CYCLIN_RBL2"
                     /note="cyclin box found in retinoblastoma-like protein 2
                     (RBL2) and similar proteins; cd20606"
                     /db_xref="CDD:410309"
     Site            order(897,901..902,908..910,1004,1006,1009..1010,1022)
                     /site_type="other"
                     /note="LxCxE peptide binding site [polypeptide binding]"
                     /db_xref="CDD:410309"
     Region          933..999
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08999.3)"
     Site            948
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64700; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Site            952
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:11042701; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Site            966
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:11042701; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Site            971
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:11042701; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Site            972
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:11042701; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Site            973
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:11042701; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Site            974
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000305|PubMed:11042701; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Site            981
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:11042701; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Site            982
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:11042701; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Site            986
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:11042701; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Site            1035
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Site            1068
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Site            1080
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     Site            1112
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q08999.3)"
     CDS             1..1139
                     /gene="RBL2"
                     /gene_synonym="BRUWAG; P130; Rb2"
                     /coded_by="NM_001323608.2:87..3506"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS10748.1"
                     /db_xref="GeneID:5934"
                     /db_xref="HGNC:HGNC:9894"
                     /db_xref="MIM:180203"
ORIGIN      
        1 mpsggdqspp ppppppaaaa sdeeeeddge aedaappaes ptpqiqqrfd elcsrlnmde
       61 aaraeawdsy rsmsesytle gndlhwlaca lyvacrksvp tvskgtvegn yvsltrilkc
      121 seqslieffn kmkkwedman lpphfrerte rlernftvsa vifkkyepif qdifkypqee
      181 qprqqrgrkq rrqpctvsei fhfcwvlfiy akgnfpmisd dlvnsyhlll caldlvygna
      241 lqcsnrkelv npnfkglsed fhakdskpss dppciieklc slhdglvlea kgikehfwkp
      301 yirklyekkl lkgkeenltg flepgnfges fkainkayee yvlsvgnlde riflgedaee
      361 eigtlsrcln agsgtetaer vqmknilqqh fdkskalris tpltgvryik enspcvtpvs
      421 tathslsrlh tmltglrnap sekleqilrt csrdptqaia nrlkemfeiy sqhfqpdedf
      481 sncakeiask hfrfaemlyy kvlesvieqe qkrlgdmdls gileqdafhr sllacclevv
      541 tfsykppgnf pfiteifdvp lyhfykviev firaedglcr evvkhlnqie eqildhlawk
      601 pesplwekir dnenrvptce evmppqnler adeiciagsp ltprrvtevr adtgglgrsi
      661 tspttlydry ssppasttrr rlfvendsps dggtpgrmpp qplvnavpvq nvsgetvsvt
      721 pvpgqtlvtm atatvtanng qtvtipvqgi anenggitff pvqvnvggqa qavtgsiqpl
      781 saqalagsls sqqvtgttlq vpgqvaiqqi spggqqqkqg qsvtsssnrp rktsslslff
      841 rkvyhlaavr lrdlcakldi sdelrkkiwt cfefsiiqcp elmmdrhldq llmcaiyvma
      901 kvtkedksfq nimrcyrtqp qarsqvyrsv likgkrkrrn sgssdsrshq nsptelnkdr
      961 tsrdsspvmr ssstlpvpqp ssapptptrl tgansdmeee ergdliqfyn niyikqiktf
     1021 amkysqanmd applspypfv rtgsprriql sqnhpvyisp hknetmlspr ekifyyfsns
     1081 pskrlreins mirtgetptk krgilledgs espakricpe nhsallrrlq dvandrgsh
//
LOCUS       NP_001288708             648 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger protein 202 isoform 1 [Homo sapiens].
ACCESSION   NP_001288708 XP_006718965
VERSION     NP_001288708.1
DBSOURCE    REFSEQ: accession NM_001301779.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 648)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 648)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   3  (residues 1 to 648)
  AUTHORS   Aberg K, Adkins DE, Bukszar J, Webb BT, Caroff SN, Miller DD, Sebat
            J, Stroup S, Fanous AH, Vladimirov VI, McClay JL, Lieberman JA,
            Sullivan PF and van den Oord EJ.
  TITLE     Genomewide association study of movement-related adverse
            antipsychotic effects
  JOURNAL   Biol Psychiatry 67 (3), 279-282 (2010)
   PUBMED   19875103
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   4  (residues 1 to 648)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 648)
  AUTHORS   Drenos F, Talmud PJ, Casas JP, Smeeth L, Palmen J, Humphries SE and
            Hingorani AD.
  TITLE     Integrated associations of genotypes with multiple blood biomarkers
            linked to coronary heart disease risk
  JOURNAL   Hum Mol Genet 18 (12), 2305-2316 (2009)
   PUBMED   19336475
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 648)
  AUTHORS   Porsch-Ozcurumez M, Langmann T, Heimerl S, Borsukova H, Kaminski
            WE, Drobnik W, Honer C, Schumacher C and Schmitz G.
  TITLE     The zinc finger protein 202 (ZNF202) is a transcriptional repressor
            of ATP binding cassette transporter A1 (ABCA1) and ABCG1 gene
            expression and a modulator of cellular lipid efflux
  JOURNAL   J Biol Chem 276 (15), 12427-12433 (2001)
   PUBMED   11279031
REFERENCE   7  (residues 1 to 648)
  AUTHORS   Schumacher C, Wang H, Honer C, Ding W, Koehn J, Lawrence Q, Coulis
            CM, Wang LL, Ballinger D, Bowen BR and Wagner S.
  TITLE     The SCAN domain mediates selective oligomerization
  JOURNAL   J Biol Chem 275 (22), 17173-17179 (2000)
   PUBMED   10747874
REFERENCE   8  (residues 1 to 648)
  AUTHORS   Wagner S, Hess MA, Ormonde-Hanson P, Malandro J, Hu H, Chen M,
            Kehrer R, Frodsham M, Schumacher C, Beluch M, Honer C, Skolnick M,
            Ballinger D and Bowen BR.
  TITLE     A broad role for the zinc finger protein ZNF202 in human lipid
            metabolism
  JOURNAL   J Biol Chem 275 (21), 15685-15690 (2000)
   PUBMED   10748193
REFERENCE   9  (residues 1 to 648)
  AUTHORS   Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH,
            Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT and Old
            LJ.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
REFERENCE   10 (residues 1 to 648)
  AUTHORS   Monaco C, Helmer Citterich M, Caprini E, Vorechovsky I, Russo G,
            Croce CM, Barbanti-Brodano G and Negrini M.
  TITLE     Molecular cloning and characterization of ZNF202: a new gene at
            11q23.3 encoding testis-specific zinc finger proteins
  JOURNAL   Genomics 52 (3), 358-362 (1998)
   PUBMED   9790754
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK226047.1, DA770117.1, BC013382.2, AL162031.1, H89560.1, H89561.1
            and AP000868.4.
            On Sep 17, 2014 this sequence version replaced XP_006718965.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK226047.1, SRR14038194.1177711.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.1"
     Protein         1..648
                     /product="zinc finger protein 202 isoform 1"
                     /note="zinc finger protein with KRAB and SCAN domains 10"
                     /calculated_mol_wt=74590
     Region          43..153
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Region          146..221
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95125.4)"
     Region          237..297
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          397..>644
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          399..419
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(404,406,408,410..411,414..415,418,432,434,438..439,
                     442..443,446,488,490,492,494..495,498..499,502)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          427..447
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            466
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95125.4)"
     Region          483..503
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          511..531
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          539..559
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          567..587
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(572,574,576,578..579,582..583,586,600,602,606..607,
                     610..611,614,628,630,632,634..635,638..639,642)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          595..615
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          623..643
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..648
                     /gene="ZNF202"
                     /gene_synonym="ZKSCAN10; ZSCAN42"
                     /coded_by="NM_001301779.2:354..2300"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS8443.1"
                     /db_xref="GeneID:7753"
                     /db_xref="HGNC:HGNC:12994"
                     /db_xref="MIM:603430"
ORIGIN      
        1 matavepedq dlweeegilm vkleddftcr pesvlqrddp vletshqnfr rfryqeaasp
       61 realirlrel chqwlrperr tkeqilellv leqfltvlpg elqswvrgqr pesgeeavtl
      121 veglqkqprr prrwvtvhvh gqevlseetv hlgvepespn elqdpvqsst peqspeettq
      181 spdlgapaeq rphqeeelqt lqesevpvpe dpdlpaerss gdsemvallt alsqglvtfk
      241 dvavcfsqdq wsdldptqke fygeyvleed cgivvslsfp iprpdeisqv reeepwvpdi
      301 qepqetqepe ilsftytgdr skdeeecleq edlsledihr pvlgepeihq tpdweivfed
      361 npgrlnerrf gtnisqvnsf vnlrettpvh pllgrhhdcs vcgksftcns hlvrhlrtht
      421 gekpykcmec gksytrsshl arhqkvhkmn apykyplnrk nleetspvtq aertpsvekp
      481 yrcddcgkhf rwtsdlvrhq rthtgekpff cticgksfsq ksvltthqri hlggkpylcg
      541 ecgedfsehr rylahrktha aeelylcsec grcfthsaaf akhlrghasv rpcrcnecgk
      601 sfsrrdhlvr hqrthtgekp ftcptcgksf srgyhlirhq rthsekts
//
LOCUS       NP_001096616            1299 aa            linear   PRI 27-DEC-2022
DEFINITION  GRB10-interacting GYF protein 2 isoform b [Homo sapiens].
ACCESSION   NP_001096616
VERSION     NP_001096616.1
DBSOURCE    REFSEQ: accession NM_001103146.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1299)
  AUTHORS   Zinshteyn B, Sinha NK, Enam SU, Koleske B and Green R.
  TITLE     Translational repression of NMD targets by GIGYF2 and EIF4E2
  JOURNAL   PLoS Genet 17 (10), e1009813 (2021)
   PUBMED   34665823
  REMARK    GeneRIF: Translational repression of NMD targets by GIGYF2 and
            EIF4E2.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1299)
  AUTHORS   Saini P, Rudakou U, Yu E, Ruskey JA, Asayesh F, Laurent SB,
            Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupre N,
            Greenbaum L, Hassin-Baer S, Espay AJ, Rouleau GA, Alcalay RN, Fon
            EA, Postuma RB and Gan-Or Z.
  TITLE     Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with
            Parkinson's disease
  JOURNAL   Neurobiol Aging 100, 119 (2021)
   PUBMED   33239198
  REMARK    GeneRIF: Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and
            EIF4G1 with Parkinson's disease.
REFERENCE   3  (residues 1 to 1299)
  AUTHORS   Weber R, Chung MY, Keskeny C, Zinnall U, Landthaler M, Valkov E,
            Izaurralde E and Igreja C.
  TITLE     4EHP and GIGYF1/2 Mediate Translation-Coupled Messenger RNA Decay
  JOURNAL   Cell Rep 33 (2), 108262 (2020)
   PUBMED   33053355
  REMARK    GeneRIF: 4EHP and GIGYF1/2 Mediate Translation-Coupled Messenger
            RNA Decay.
REFERENCE   4  (residues 1 to 1299)
  AUTHORS   Hickey KL, Dickson K, Cogan JZ, Replogle JM, Schoof M, D'Orazio KN,
            Sinha NK, Hussmann JA, Jost M, Frost A, Green R, Weissman JS and
            Kostova KK.
  TITLE     GIGYF2 and 4EHP Inhibit Translation Initiation of Defective
            Messenger RNAs to Assist Ribosome-Associated Quality Control
  JOURNAL   Mol Cell 79 (6), 950-962 (2020)
   PUBMED   32726578
  REMARK    GeneRIF: GIGYF2 and 4EHP Inhibit Translation Initiation of
            Defective Messenger RNAs to Assist Ribosome-Associated Quality
            Control.
REFERENCE   5  (residues 1 to 1299)
  AUTHORS   Peter D, Ruscica V, Bawankar P, Weber R, Helms S, Valkov E, Igreja
            C and Izaurralde E.
  TITLE     Molecular basis for GIGYF-Me31B complex assembly in 4EHP-mediated
            translational repression
  JOURNAL   Genes Dev 33 (19-20), 1355-1360 (2019)
   PUBMED   31439631
REFERENCE   6  (residues 1 to 1299)
  AUTHORS   Tan,E.K. and Schapira,A.H.
  TITLE     Summary of GIGYF2 studies in Parkinson's disease: the burden of
            proof
  JOURNAL   Eur J Neurol 17 (2), 175-176 (2010)
   PUBMED   19906271
REFERENCE   7  (residues 1 to 1299)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   8  (residues 1 to 1299)
  AUTHORS   Giovannone B, Lee E, Laviola L, Giorgino F, Cleveland KA and Smith
            RJ.
  TITLE     Two novel proteins that are linked to insulin-like growth factor
            (IGF-I) receptors by the Grb10 adapter and modulate IGF-I signaling
  JOURNAL   J Biol Chem 278 (34), 31564-31573 (2003)
   PUBMED   12771153
REFERENCE   9  (residues 1 to 1299)
  AUTHORS   Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C,
            Conneally PM and Foroud T.
  CONSRTM   Parkinson Study Group
  TITLE     Significant linkage of Parkinson disease to chromosome 2q36-37
  JOURNAL   Am J Hum Genet 72 (4), 1053-1057 (2003)
   PUBMED   12638082
REFERENCE   10 (residues 1 to 1299)
  AUTHORS   Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel
            TS, Stine OC, Callahan C, McInnis MG and Ross CA.
  TITLE     cDNAs with long CAG trinucleotide repeats from human brain
  JOURNAL   Hum Genet 100 (1), 114-122 (1997)
   PUBMED   9225980
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK001739.1, BX537885.1,
            BX538321.1, BC008072.2 and AC016692.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene contains CAG trinucleotide repeats and encodes a
            protein containing several stretches of polyglutamine residues. The
            encoded protein may be involved in the regulation of tyrosine
            kinase receptor signaling. This gene is located in a chromosomal
            region that was genetically linked to Parkinson disease type 11,
            and mutations in this gene were thought to be causative for this
            disease. However, more recent studies in different populations have
            been unable to replicate this association. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, May
            2013].
            
            Transcript Variant: This variant (3) lacks an alternate exon in the
            5' UTR and lacks an exon in the coding region, but maintains the
            reading frame, compared to variant 1. The encoded isoform (b) is
            shorter than isoform a. Both variants 2 and 3 encode the same
            isoform (b).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX538321.1, BX537885.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373563.9/ ENSP00000362664.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1299
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     Protein         1..1299
                     /product="GRB10-interacting GYF protein 2 isoform b"
                     /note="PERQ amino acid rich, with GYF domain 3; PERQ amino
                     acid-rich with GYF domain-containing protein 2;
                     trinucleotide repeat-containing gene 15 protein; Parkinson
                     disease (autosomal recessive, early onset) 11"
                     /calculated_mol_wt=149939
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            19
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            26
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          40..50
                     /region_name="4EHP-binding motif.
                     /evidence=ECO:0000269|PubMed:22751931"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            107
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q6Y7W8; propagated from
                     UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          112..131
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            118
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q6Y7W8; propagated from
                     UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            120
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q6Y7W8; propagated from
                     UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            139
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          147..195
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            149
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q6Y7W8; propagated from
                     UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            160
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            189
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          214..247
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            236
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          266..433
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          280..310
                     /region_name="DDX6 binding motif.
                     /evidence=ECO:0000269|PubMed:31439631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            382
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            388
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          533..588
                     /region_name="GYF"
                     /note="GYF domain: contains conserved Gly-Tyr-Phe
                     residues; Proline-binding domain in CD2-binding and other
                     proteins. Involved in signaling lymphocyte activity. Also
                     present in other unrelated proteins (mainly unknown)
                     derived from diverse eukaryotic species; cd00072"
                     /db_xref="CDD:238027"
     Region          547..563
                     /region_name="Required for GRB10-binding.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            547..563
                     /site_type="active"
                     /note="proline binding motif [active]"
                     /db_xref="CDD:238027"
     Site            order(557,562..563)
                     /site_type="active"
                     /note="proline interaction residues [active]"
                     /db_xref="CDD:238027"
     Site            593
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          733..793
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          845..866
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          872..891
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          917..936
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          957..997
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            993
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          1009..1048
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          1084..1112
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          1195..1230
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Region          1247..1271
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     Site            1284
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6Y7W6.1)"
     CDS             1..1299
                     /gene="GIGYF2"
                     /gene_synonym="GYF2; PARK11; PERQ2; PERQ3; TNRC15"
                     /coded_by="NM_001103146.3:172..4071"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS33401.1"
                     /db_xref="GeneID:26058"
                     /db_xref="HGNC:HGNC:11960"
                     /db_xref="MIM:612003"
ORIGIN      
        1 maaetqtlnf gpewlralss ggsitsppls palpkyklad yrygreemla lflkdnkips
       61 dlldkeflpi lqeeplppla lvpfteeeqr nfsmsvnsaa vlrltgrggg gtvvgaprgr
      121 sssrgrgrgr gecgfyqrsf devegvfgrg ggremhrsqs weergdrrfe kpgrkdvgrp
      181 nfeeggptsv grkhefirse senwrifree qngededggw rlagsrrdge rwrphspdgp
      241 rsagwrehme rrrrfefdfr drddergyrr vrsgsgsidd drdslpewcl edaeeemgtf
      301 dssgaflslk kvqkepipee qemdfrpvde geecsdsegs hneeakepdk tnkkegektd
      361 rvgveaseet pqtssssarp gtpsdhqsqe asqferkdep kteqtekaee etrmenslpa
      421 kvpsrgdemv advqqplsqi psdtasplli lpppvpnpsp tlrpvetpvv gapgmgsvst
      481 epddeeglkh leqqaekmva ylqdsaldde rlasklqehr akgvsiplmh eamqkwyykd
      541 pqgeiqgpfn nqemaewfqa gyftmsllvk racdesfqpl gdimkmwgrv pfspgpappp
      601 hmgeldqerl trqqeltaly qmqhlqyqqf liqqqyaqvl aqqqkaalss qqqqqlalll
      661 qqfqtlkmri sdqniipsvt rsvsvpdtgs iwelqptasq ptvweggsvw dlpldtttpg
      721 paleqlqqle kakaakleqe rreaemrakr eeeerkrqee lrrqqeeilr rqqeeerkrr
      781 eeeelarrkq eealrrqreq eialrrqree eerqqqeeal rrleerrree eerrkqeell
      841 rkqeeeaakw areeeeaqrr leenrlrmee eaarlrheee erkrkelevq rqkelmrqrq
      901 qqqealrrlq qqqqqqqlaq mklpssstwg qqsnttacqs qatlslaeiq kleeererql
      961 reeqrrqqre lmkalqqqqq qqqqklsgwg nvskpsgttk slleiqqeea rqmqkqqqqq
     1021 qqhqqpnrar nnthsnlhts ignsvwgsin tgppnqwasd lvssiwsnad tknsnmgfwd
     1081 davkevgprn stnknknnas lsksvgvsnr qnkkveeeek llklfqgvnk aqdgftqwce
     1141 qmlhalntan nldvptfvsf lkevespyev hdyiraylgd tseakefakq flerrakqka
     1201 nqqrqqqqlp qqqqqqppqq ppqqpqqqds vwgmnhstlh svfqtnqsnn qqsnfeavqs
     1261 gkkkkkqkmv radpsllgfs vnasserlnm geietlddy
//
LOCUS       NP_001332803            1164 aa            linear   PRI 27-DEC-2022
DEFINITION  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate
            kinase 2 isoform 7 [Homo sapiens].
ACCESSION   NP_001332803 XP_016864761
VERSION     NP_001332803.1
DBSOURCE    REFSEQ: accession NM_001345874.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1164)
  AUTHORS   Cao CH, Ling H, Han K, Lu XP, Cai MY, Cao JH, Zhou J, Xiang ZC,
            Chen JW, Li S, Lin JL, Duan JL, Luo J, Fang YJ, Pan ZZ, Liang L,
            Wang F, Xie D and Wang FW.
  TITLE     PPIP5K2 promotes colorectal carcinoma pathogenesis through
            facilitating DNA homologous recombination repair
  JOURNAL   Oncogene 40 (49), 6680-6691 (2021)
   PUBMED   34645979
  REMARK    GeneRIF: PPIP5K2 promotes colorectal carcinoma pathogenesis through
            facilitating DNA homologous recombination repair.
REFERENCE   2  (residues 1 to 1164)
  AUTHORS   Khaled ML, Bykhovskaya Y, Gu C, Liu A, Drewry MD, Chen Z, Mysona
            BA, Parker E, McNabb RP, Yu H, Lu X, Wang J, Li X, Al-Muammar A,
            Rotter JI, Porter LF, Estes A, Watsky MA, Smith SB, Xu H, Abu-Amero
            KK, Kuo A, Shears SB, Rabinowitz YS and Liu Y.
  TITLE     PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial
            Keratoconus
  JOURNAL   Sci Rep 9 (1), 19406 (2019)
   PUBMED   31852976
  REMARK    GeneRIF: PPIP5K2 and PCSK1 are Candidate Genetic Contributors to
            Familial Keratoconus.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1164)
  AUTHORS   An Y, Jessen HJ, Wang H, Shears SB and Kireev D.
  TITLE     Dynamics of Substrate Processing by PPIP5K2, a Versatile Catalytic
            Machine
  JOURNAL   Structure 27 (6), 1022-1028 (2019)
   PUBMED   30956131
  REMARK    GeneRIF: Data suggest that the enzyme-substrate forces are
            predictive of the various diphosphoinositol pentakisphosphate
            kinase 2 (PPIP5K2) catalytic activities.
REFERENCE   4  (residues 1 to 1164)
  AUTHORS   Yousaf R, Gu C, Ahmed ZM, Khan SN, Friedman TB, Riazuddin S, Shears
            SB and Riazuddin S.
  TITLE     Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are
            associated with hearing loss in human and mouse
  JOURNAL   PLoS Genet 14 (3), e1007297 (2018)
   PUBMED   29590114
  REMARK    GeneRIF: demonstration that PPIP5K2 has a role in hearing in humans
            indicates that PP-IP signaling is important to hair cell
            maintenance and function within inner ear
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1164)
  AUTHORS   Gu C, Nguyen HN, Hofer A, Jessen HJ, Dai X, Wang H and Shears SB.
  TITLE     The Significance of the Bifunctional Kinase/Phosphatase Activities
            of Diphosphoinositol Pentakisphosphate Kinases (PPIP5Ks) for
            Coupling Inositol Pyrophosphate Cell Signaling to Cellular
            Phosphate Homeostasis
  JOURNAL   J Biol Chem 292 (11), 4544-4555 (2017)
   PUBMED   28126903
  REMARK    GeneRIF: This study characterized kinetic properties of the
            bifunctional inositol pyrophosphate 5-diphosphoinositol
            1,2,3,4,6-pentakisphosphatekinase/inositol pyrophosphate,
            1,5-bisdiphosphoinositol 2,3,4,6-tetrakisphosphate phosphatase
            activities of full-length diphosphoinositol pentakisphosphate
            kinase 1 and 2.
REFERENCE   6  (residues 1 to 1164)
  AUTHORS   Weaver JD, Wang H and Shears SB.
  TITLE     The kinetic properties of a human PPIP5K reveal that its kinase
            activities are protected against the consequences of a
            deteriorating cellular bioenergetic environment
  JOURNAL   Biosci Rep 33 (2), e00022 (2013)
   PUBMED   23240582
  REMARK    GeneRIF: the specificity constants for PPIP5K2 revise upwards by
            one-to-two orders of magnitude the inherent catalytic activities of
            this enzyme, and we show its equilibrium point favours 80-90%
            depletion of InsP/-InsP.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 1164)
  AUTHORS   Wang H, Falck JR, Hall TM and Shears SB.
  TITLE     Structural basis for an inositol pyrophosphate kinase surmounting
            phosphate crowding
  JOURNAL   Nat Chem Biol 8 (1), 111-116 (2011)
   PUBMED   22119861
  REMARK    GeneRIF: describe the PPIP5K2's conformational dynamics, its
            unprecedented topological presentation of nucleotide and inositol
            phosphate, and the charge balance that facilitates partly
            associative in-line phosphoryl transfer
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 1164)
  AUTHORS   Lin H, Fridy PC, Ribeiro AA, Choi JH, Barma DK, Vogel G, Falck JR,
            Shears SB, York JD and Mayr GW.
  TITLE     Structural analysis and detection of biological inositol
            pyrophosphates reveal that the family of VIP/diphosphoinositol
            pentakisphosphate kinases are 1/3-kinases
  JOURNAL   J Biol Chem 284 (3), 1863-1872 (2009)
   PUBMED   18981179
REFERENCE   9  (residues 1 to 1164)
  AUTHORS   Choi JH, Williams J, Cho J, Falck JR and Shears SB.
  TITLE     Purification, sequencing, and molecular identification of a
            mammalian PP-InsP5 kinase that is activated when cells are exposed
            to hyperosmotic stress
  JOURNAL   J Biol Chem 282 (42), 30763-30775 (2007)
   PUBMED   17702752
REFERENCE   10 (residues 1 to 1164)
  AUTHORS   Fridy PC, Otto JC, Dollins DE and York JD.
  TITLE     Cloning and characterization of two human VIP1-like inositol
            hexakisphosphate and diphosphoinositol pentakisphosphate kinases
  JOURNAL   J Biol Chem 282 (42), 30754-30762 (2007)
   PUBMED   17690096
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008447.8 and AC011362.2.
            On Sep 14, 2016 this sequence version replaced XP_016864761.1.
            
            Summary: This gene encodes a member of the histidine acid
            phosphatase family of proteins. Despite containing a histidine acid
            phosphatase domain, the encoded protein functions as an inositol
            pyrophosphate kinase, and is thought to lack phosphatase activity.
            This kinase activity is the mechanism by which the encoded protein
            synthesizes high-energy inositol pyrophosphates, which act as
            signaling molecules that regulate cellular homeostasis and other
            processes. This gene may be associated with autism spectrum
            disorder in human patients. [provided by RefSeq, Sep 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1687398.1,
                                           SRR14038197.864496.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1164
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q21.1"
     Protein         1..1164
                     /product="inositol hexakisphosphate and
                     diphosphoinositol-pentakisphosphate kinase 2 isoform 7"
                     /EC_number="2.7.4.24"
                     /note="inositol heptaphosphate kinase 2; inositol
                     hexakisphosphate and diphosphoinositol-pentakisphosphate
                     kinase 2; VIP1 homolog 2; insP6 and PP-IP5 kinase 2;
                     histidine acid phosphatase domain-containing protein 1;
                     deafness, autosomal recessive 100"
                     /calculated_mol_wt=131738
     Region          44..133
                     /region_name="PPIP5K2_N"
                     /note="Diphosphoinositol pentakisphosphate kinase 2
                     N-terminal domain; pfam18086"
                     /db_xref="CDD:436261"
     Region          48..337
                     /region_name="RimK"
                     /note="Glutathione synthase/RimK-type ligase, ATP-grasp
                     superfamily [Coenzyme transport and metabolism,
                     Translation, ribosomal structure and biogenesis]; COG0189"
                     /db_xref="CDD:223267"
     Region          379..894
                     /region_name="His_Phos_2"
                     /note="Histidine phosphatase superfamily (branch 2);
                     pfam00328"
                     /db_xref="CDD:395259"
     CDS             1..1164
                     /gene="PPIP5K2"
                     /gene_synonym="CFAP160; DFNB100; HISPPD1; IP7K2; VIP2"
                     /coded_by="NM_001345874.2:473..3967"
                     /note="isoform 7 is encoded by transcript variant 8"
                     /db_xref="GeneID:23262"
                     /db_xref="HGNC:HGNC:29035"
                     /db_xref="MIM:611648"
ORIGIN      
        1 mseaprffvg pedteinpgn yrhffhhade ddeeeddspp erqivvgics makkskskpm
       61 keilerislf kyitvvvfee evilnepven wplcdclisf hskgfpldka vayaklrnpf
      121 vindlnmqyl iqdrrevysi lqaegillpr yailnrdpnn pkecnliege dhvevngevf
      181 qkpfvekpvs aedhnvyiyy ptsagggsqr lfrkigsrss vyspesnvrk tgsyiyeefm
      241 ptdgtdvkvy tvgpdyahae arkspaldgk verdsegkev rypvilnare kliawkvcla
      301 fkqtvcgfdl lrangqsyvc dvngfsfvkn smkyyddcak ilgnivmrel apqfhipwsi
      361 pleaedipiv pttsgtmmel rcviavirhg drtpkqkmkm evrhqkffdl fekcdgyksg
      421 klklkkpkql qevldiarql lmelgqnnds eieenkpkle qlktvlemyg hfsginrkvq
      481 ltylphgcpk tsseeedsrr eepslllvlk wggeltpagr vqaeelgraf rcmypggqgd
      541 yagfpgcgll rlhstyrhdl kiyasdegrv qmtaaafakg llalegeltp ilvqmvksan
      601 mnglldsdsd slsscqqrvk arlheilqkd rdftaedyek ltpsgsisli ksmhliknpv
      661 ktcdkvysli qsltsqirhr medpkssdiq lyhsetlelm lrrwsklekd fktkngrydi
      721 skipdiydci kydvqhngsl klentmelyr lskaladivi pqeygitkae kleiakgyct
      781 plvrkirsdl qrtqdddtvn klhpvysrgv lsperhvrtr lyftseshvh sllsilryga
      841 lcneskdeqw kramdylnvv nelnymtqiv imlyedpnkd lsseerfhve lhfspgakgc
      901 eedknlpsgy gyrpasrene grrpfkidnd dephtskrde vdravilfkp mvsepihihr
      961 ksplprsrkt atndvvsena nylrtprtlv eqkqnptvgs hcaglfstsv lggsssapnl
     1021 qdyarthrkk ltssgcidgf elysmvpsic pletlhnals lkqvdeflas iaspssdvpr
     1081 ktaeisstal rsspimrkkv slntytpaki lptppatlks tkasskpats gpssavvpnt
     1141 ssrkknitsk tethehkknt gkkk
//
LOCUS       NP_001363395             989 aa            linear   PRI 27-DEC-2022
DEFINITION  ephrin type-A receptor 7 isoform 5 precursor [Homo sapiens].
ACCESSION   NP_001363395 XP_016865854
VERSION     NP_001363395.1
DBSOURCE    REFSEQ: accession NM_001376466.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 989)
  AUTHORS   Zhang W, Cao H, Yang J, Zhao J, Liang Z, Kang X and Wang R.
  TITLE     The identification and validation of EphA7 hypermethylation, a
            novel biomarker, in cervical cancer
  JOURNAL   BMC Cancer 22 (1), 636 (2022)
   PUBMED   35681118
  REMARK    GeneRIF: The identification and validation of EphA7
            hypermethylation, a novel biomarker, in cervical cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 989)
  AUTHORS   Salokas K, Liu X, Ohman T, Chowdhury I, Gawriyski L, Keskitalo S
            and Varjosalo M.
  TITLE     Physical and functional interactome atlas of human receptor
            tyrosine kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   3  (residues 1 to 989)
  AUTHORS   Levy J, Schell B, Nasser H, Rachid M, Ruaud L, Couque N, Callier P,
            Faivre L, Marle N, Engwerda A, van Ravenswaaij-Arts CMA, Plutino M,
            Karmous-Benailly H, Benech C, Redon S, Boute O, Boudry Labis E,
            Rama M, Kuentz P, Assoumani J, Maldergem LV, Dupont C, Verloes A
            and Tabet AC.
  TITLE     EPHA7 haploinsufficiency is associated with a neurodevelopmental
            disorder
  JOURNAL   Clin Genet 100 (4), 396-404 (2021)
   PUBMED   34176129
  REMARK    GeneRIF: EPHA7 haploinsufficiency is associated with a
            neurodevelopmental disorder.
REFERENCE   4  (residues 1 to 989)
  AUTHORS   Chakraborty S and Varma AK.
  TITLE     Crystal structure of clinically reported mutations Gly656Arg,
            Gly656Glu and Asp751His identified in the kinase domain of EphA7
  JOURNAL   Biochem Biophys Res Commun 568, 62-67 (2021)
   PUBMED   34186436
  REMARK    GeneRIF: Crystal structure of clinically reported mutations
            Gly656Arg, Gly656Glu and Asp751His identified in the kinase domain
            of EphA7.
REFERENCE   5  (residues 1 to 989)
  AUTHORS   Tu Y, Cai Q, Zhu X and Xu M.
  TITLE     Down-regulation of HCP5 inhibits cell proliferation, migration, and
            invasion through regulating EPHA7 by competitively binding miR-101
            in osteosarcoma
  JOURNAL   Braz J Med Biol Res 54 (2), e9161 (2021)
   PUBMED   33439936
  REMARK    GeneRIF: Down-regulation of HCP5 inhibits cell proliferation,
            migration, and invasion through regulating EPHA7 by competitively
            binding miR-101 in osteosarcoma.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 989)
  AUTHORS   Zhou R.
  TITLE     The Eph family receptors and ligands
  JOURNAL   Pharmacol Ther 77 (3), 151-181 (1998)
   PUBMED   9576626
  REMARK    Review article
REFERENCE   7  (residues 1 to 989)
  AUTHORS   Flanagan JG and Vanderhaeghen P.
  TITLE     The ephrins and Eph receptors in neural development
  JOURNAL   Annu Rev Neurosci 21, 309-345 (1998)
   PUBMED   9530499
  REMARK    Review article
REFERENCE   8  (residues 1 to 989)
  AUTHORS   Ciossek T and Ullrich A.
  TITLE     Identification of Elf-1 and B61 as high affinity ligands for the
            receptor tyrosine kinase MDK1
  JOURNAL   Oncogene 14 (1), 35-43 (1997)
   PUBMED   9010230
REFERENCE   9  (residues 1 to 989)
  AUTHORS   Gale NW, Holland SJ, Valenzuela DM, Flenniken A, Pan L, Ryan TE,
            Henkemeyer M, Strebhardt K, Hirai H, Wilkinson DG, Pawson T, Davis
            S and Yancopoulos GD.
  TITLE     Eph receptors and ligands comprise two major specificity subclasses
            and are reciprocally compartmentalized during embryogenesis
  JOURNAL   Neuron 17 (1), 9-19 (1996)
   PUBMED   8755474
REFERENCE   10 (residues 1 to 989)
  AUTHORS   Fox GM, Holst PL, Chute HT, Lindberg RA, Janssen AM, Basu R and
            Welcher AA.
  TITLE     cDNA cloning and tissue distribution of five human EPH-like
            receptor protein-tyrosine kinases
  JOURNAL   Oncogene 10 (5), 897-905 (1995)
   PUBMED   7898931
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121966.10, AL591036.8 and
            AL354857.13.
            On Nov 14, 2019 this sequence version replaced XP_016865854.1.
            
            Summary: This gene belongs to the ephrin receptor subfamily of the
            protein-tyrosine kinase family. EPH and EPH-related receptors have
            been implicated in mediating developmental events, particularly in
            the nervous system. Receptors in the EPH subfamily typically have a
            single kinase domain and an extracellular region containing a
            Cys-rich domain and 2 fibronectin type III repeats. The ephrin
            receptors are divided into 2 groups based on the similarity of
            their extracellular domain sequences and their affinities for
            binding ephrin-A and ephrin-B ligands. Increased expression of this
            gene is associated with multiple forms of carcinoma. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Dec 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.431970.1,
                                           SRR18074969.2709382.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..989
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q16.1"
     Protein         1..989
                     /product="ephrin type-A receptor 7 isoform 5 precursor"
                     /EC_number="2.7.10.1"
                     /note="ephrin type-A receptor 7; tyrosine-protein kinase
                     receptor EHK-3; Eph homology kinase-3; receptor
                     protein-tyrosine kinase HEK11; EPH-like kinase 11; EPH
                     homology kinase 3"
                     /calculated_mol_wt=107733
     sig_peptide     1..27
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3316
     Region          30..206
                     /region_name="EphR_LBD_A7"
                     /note="Ligand Binding Domain of Ephrin type-A Receptor 7;
                     cd10485"
                     /db_xref="CDD:198453"
     Site            order(56,58..62,69..70,72,74,105,107,112..113,155,
                     159..160,163..165,192..194,196)
                     /site_type="other"
                     /note="ephrin binding site [polypeptide binding]"
                     /db_xref="CDD:198453"
     Region          332..438
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(332,407,420)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            343
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15375.3)"
     Site            410
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15375.3)"
     Site            order(421..422,424..425)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          443..534
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(443,507,522)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(523..524,526..527)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            551..571
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15375.3)"
     Region          560..621
                     /region_name="EphA2_TM"
                     /note="Ephrin type-A receptor 2 transmembrane domain;
                     pfam14575"
                     /db_xref="CDD:434048"
     Site            599
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15375.3)"
     Site            605
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15375.3)"
     Region          619..885
                     /region_name="PTKc_EphR_A"
                     /note="Catalytic domain of the Protein Tyrosine Kinases,
                     Class EphA Ephrin Receptors; cd05066"
                     /db_xref="CDD:270651"
     Site            order(630,632..634,638,654,656,702..703,705,749,753..754,
                     756,767,786..790,799,833)
                     /site_type="active"
                     /db_xref="CDD:270651"
     Site            order(630..634,638,654,656,702..705,708..709,753..754,756,
                     767)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270651"
     Site            order(749,753,786..790,799,833)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270651"
     Site            766..792
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270651"
     Site            782
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15375.3)"
     Region          910..979
                     /region_name="SAM_EPH-A7"
                     /note="SAM domain of EPH-A7 subfamily of tyrosine kinase
                     receptors; cd09548"
                     /db_xref="CDD:188947"
     Site            order(931,964)
                     /site_type="other"
                     /note="putative phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:188947"
     Site            931
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15375.3)"
     Region          987..989
                     /region_name="PDZ-binding. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15375.3)"
     CDS             1..989
                     /gene="EPHA7"
                     /gene_synonym="EHK-3; EHK3; EK11; HEK11"
                     /coded_by="NM_001376466.1:219..3188"
                     /note="isoform 5 precursor is encoded by transcript
                     variant 5"
                     /db_xref="GeneID:2045"
                     /db_xref="HGNC:HGNC:3390"
                     /db_xref="MIM:602190"
ORIGIN      
        1 mvfqtrypsw iilcyiwllr fahtgeaqaa kevllldska qqtelewiss ppngweeisg
       61 ldenytpirt yqvcqvmepn qnnwlrtnwi skgnaqrifv elkftlrdcn slpgvlgtck
      121 etfnlyyyet dydtgrnire nlyvkidtia adesftqgdl gerkmklnte vreigplskk
      181 gfylafqdvg acialvsvkv yykkcwsiie nlaifpdtvt gsefsslvev rgtcvssaee
      241 eaenaprmhc saegewlvpi gkcickagyq qkgdtcepcg rgfyksssqd lqcsrcpths
      301 fsdkegssrc ecedgyyrap sdppyvactr ppsapqnlif ninqttvsle wsppadnggr
      361 ndvtyrilck rcsweqgecv pcgsnigymp qqtglednyv tvmdllahan ytfeveavng
      421 vsdlsrsqrl faavsittgq aapsqvsgvm kervlqrsve lswqepehpn gviteyeiky
      481 yekdqrerty stvktkstsa sinnlkpgtv yvfqirafta agygnysprl dvatleeata
      541 tavsseqnpv iiiavvavag tiilvfmvfg fiigrrhcgy skadqegdee lyfhctktyi
      601 dpetyedpnr avhqfakeld ascikiervi gagefgevcs grlklpgkrd vavaiktlkv
      661 gytekqrrdf lceasimgqf dhpnvvhleg vvtrgkpvmi viefmengal daflrkhdgq
      721 ftviqlvgml rgiaagmryl admgyvhrdl aarnilvnsn lvckvsdfgl srvieddpea
      781 vytttggkip vrwtapeaiq yrkftsasdv wsygivmwev msygerpywd msnqdvikai
      841 eegyrlpapm dcpaglhqlm ldcwqkerae rpkfeqivgi ldkmirnpns lktplgtcsr
      901 pisplldqnt pdfttfcsvg ewlqaikmer ykdnftaagy nslesvarmt iedvmslgit
      961 lvghqkkims siqtmraqml hlhgtgiqv
//
LOCUS       NP_001362983             488 aa            linear   PRI 28-DEC-2022
DEFINITION  soluble lamin-associated protein of 75 kDa isoform 3 [Homo
            sapiens].
ACCESSION   NP_001362983
VERSION     NP_001362983.1
DBSOURCE    REFSEQ: accession NM_001376054.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 488)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 488)
  AUTHORS   Roux KJ, Kim DI, Raida M and Burke B.
  TITLE     A promiscuous biotin ligase fusion protein identifies proximal and
            interacting proteins in mammalian cells
  JOURNAL   J Cell Biol 196 (6), 801-810 (2012)
   PUBMED   22412018
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010501.7 and AC093214.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.2978544.1,
                                           SRR1660803.1365.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..488
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.3"
     Protein         1..488
                     /product="soluble lamin-associated protein of 75 kDa
                     isoform 3"
                     /note="protein FAM169A; soluble lamina-associated protein
                     of 75 kD; soluble lamin-associated protein of 75 kDa"
                     /calculated_mol_wt=54390
     CDS             1..488
                     /gene="FAM169A"
                     /gene_synonym="SLAP75"
                     /coded_by="NM_001376054.1:280..1746"
                     /note="isoform 3 is encoded by transcript variant 8"
                     /db_xref="GeneID:26049"
                     /db_xref="HGNC:HGNC:29138"
                     /db_xref="MIM:615769"
ORIGIN      
        1 mflrkkyrgk dfglhmledf vdsftedalg lryplsslmy tackqyfeky pgdhellwev
       61 egvghwyqri pvtralqrea lkilalsqne pkrpmsgeyg pasvpeyear tednqssemq
      121 ltidslkdaf astseghdkt svsthtrsgn lkrpkigkrf qdsefsssqg edektsqtsl
      181 tasinklest arpsesseef leeepeqrgi efedessdrd arpaletqpq qekqdgekes
      241 elepmngeim ddslktslit eeedstsevl deelklqpfn ssedstnlvp lvvesskppe
      301 vdapdktpri pdsemlmdeg tsdekghmee klsllprkka hlgssdnvat msneersdgg
      361 fpnsviaefs eepvsenlsp nttssledqg eegvsepqet stalpqssli eveledvpfs
      421 qnagqknqse eqseasseql dqftqsaeka vdssseeiev evpvvdrrnl rrkakghkgp
      481 akkkaklt
//
LOCUS       NP_001364347            1559 aa            linear   PRI 29-DEC-2022
DEFINITION  rho guanine nucleotide exchange factor 11 isoform 3 [Homo sapiens].
ACCESSION   NP_001364347 XP_006711726
VERSION     NP_001364347.1
DBSOURCE    REFSEQ: accession NM_001377418.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1559)
  AUTHORS   Yan J, Su R, Zhang W, Wei Y, Wang C, Lin L, Feng H and Yang H.
  TITLE     Epigenetic alteration of Rho guanine nucleotide exchange Factor 11
            (ARHGEF11) in cord blood samples in macrosomia exposed to
            intrauterine hyperglycemia
  JOURNAL   J Matern Fetal Neonatal Med 34 (3), 422-431 (2021)
   PUBMED   30999786
  REMARK    GeneRIF: Epigenetic alteration of Rho guanine nucleotide exchange
            Factor 11 (ARHGEF11) in cord blood samples in macrosomia exposed to
            intrauterine hyperglycemia.
REFERENCE   2  (residues 1 to 1559)
  AUTHORS   Castillo-Kauil A, Garcia-Jimenez I, Cervantes-Villagrana RD,
            Adame-Garcia SR, Beltran-Navarro YM, Gutkind JS, Reyes-Cruz G and
            Vazquez-Prado J.
  TITLE     Galphas directly drives PDZ-RhoGEF signaling to Cdc42
  JOURNAL   J Biol Chem 295 (50), 16920-16928 (2020)
   PUBMED   33023908
  REMARK    GeneRIF: Galphas directly drives PDZ-RhoGEF signaling to Cdc42.
REFERENCE   3  (residues 1 to 1559)
  AUTHORS   Du J, Zhu Z, Xu L, Chen X, Li X, Lan T, Li W, Yuan K and Zeng Y.
  TITLE     ARHGEF11 promotes proliferation and epithelial-mesenchymal
            transition of hepatocellular carcinoma through activation of
            beta-catenin pathway
  JOURNAL   Aging (Albany NY) 12 (20), 20235-20253 (2020)
   PUBMED   33122451
  REMARK    GeneRIF: ARHGEF11 promotes proliferation and epithelial-mesenchymal
            transition of hepatocellular carcinoma through activation of
            beta-catenin pathway.
REFERENCE   4  (residues 1 to 1559)
  AUTHORS   Bouafia A, Lofek S, Bruneau J, Chentout L, Lamrini H, Trinquand A,
            Deau MC, Heurtier L, Meignin V, Picard C, Macintyre E, Alibeu O,
            Bras M, Molina TJ, Cavazzana M, Andre-Schmutz I, Durandy A, Fischer
            A, Oksenhendler E and Kracker S.
  TITLE     Loss of ARHGEF1 causes a human primary antibody deficiency
  JOURNAL   J Clin Invest 129 (3), 1047-1060 (2019)
   PUBMED   30521495
  REMARK    GeneRIF: results indicate that ARHGEF1 activity in human
            lymphocytes is involved in controlling actin cytoskeleton dynamics,
            restraining PI3K/AKT signaling, and confining B lymphocytes and
            myelocytes within their dedicated functional environment.
REFERENCE   5  (residues 1 to 1559)
  AUTHORS   Ding Z, Dhruv H, Kwiatkowska-Piwowarczyk A, Ruggieri R, Kloss J,
            Symons M, Pirrotte P, Eschbacher JM, Tran NL and Loftus JC.
  TITLE     PDZ-RhoGEF Is a Signaling Effector for TROY-Induced Glioblastoma
            Cell Invasion and Survival
  JOURNAL   Neoplasia 20 (10), 1045-1058 (2018)
   PUBMED   30219706
  REMARK    GeneRIF: PDZ-RhoGEF role in the glioblastoma cell invasion and
            survival.PDZ-RhoGEF is an effector of TROY signaling.
REFERENCE   6  (residues 1 to 1559)
  AUTHORS   Longenecker KL, Lewis ME, Chikumi H, Gutkind JS and Derewenda ZS.
  TITLE     Structure of the RGS-like domain from PDZ-RhoGEF: linking
            heterotrimeric g protein-coupled signaling to Rho GTPases
  JOURNAL   Structure 9 (7), 559-569 (2001)
   PUBMED   11470431
REFERENCE   7  (residues 1 to 1559)
  AUTHORS   Jackson M, Song W, Liu MY, Jin L, Dykes-Hoberg M, Lin CI, Bowers
            WJ, Federoff HJ, Sternweis PC and Rothstein JD.
  TITLE     Modulation of the neuronal glutamate transporter EAAT4 by two
            interacting proteins
  JOURNAL   Nature 410 (6824), 89-93 (2001)
   PUBMED   11242047
REFERENCE   8  (residues 1 to 1559)
  AUTHORS   Togashi H, Nagata K, Takagishi M, Saitoh N and Inagaki M.
  TITLE     Functions of a rho-specific guanine nucleotide exchange factor in
            neurite retraction. Possible role of a proline-rich motif of
            KIAA0380 in localization
  JOURNAL   J Biol Chem 275 (38), 29570-29578 (2000)
   PUBMED   10900204
REFERENCE   9  (residues 1 to 1559)
  AUTHORS   Rumenapp U, Blomquist A, Schworer G, Schablowski H, Psoma A and
            Jakobs KH.
  TITLE     Rho-specific binding and guanine nucleotide exchange catalysis by
            KIAA0380, a dbl family member
  JOURNAL   FEBS Lett 459 (3), 313-318 (1999)
   PUBMED   10526156
  REMARK    Erratum:[FEBS Lett 2000 Feb 4;467(1):134-5]
REFERENCE   10 (residues 1 to 1559)
  AUTHORS   Fukuhara S, Murga C, Zohar M, Igishi T and Gutkind JS.
  TITLE     A novel PDZ domain containing guanine nucleotide exchange factor
            links heterotrimeric G proteins to Rho
  JOURNAL   J Biol Chem 274 (9), 5868-5879 (1999)
   PUBMED   10026210
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157713.10 and AL356104.6.
            On Jan 10, 2020 this sequence version replaced XP_006711726.1.
            
            Summary: Rho GTPases play a fundamental role in numerous cellular
            processes that are initiated by extracellular stimuli that work
            through G protein coupled receptors. The encoded protein may form a
            complex with G proteins and stimulate Rho-dependent signals. A
            similar protein in rat interacts with glutamate transporter EAAT4
            and modulates its glutamate transport activity. Expression of the
            rat protein induces the reorganization of the actin cytoskeleton
            and its overexpression induces the formation of membrane ruffling
            and filopodia. Two alternative transcripts encoding different
            isoforms have been described. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1559
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     Protein         1..1559
                     /product="rho guanine nucleotide exchange factor 11
                     isoform 3"
                     /note="Rho guanine exchange factor (GEF) 11; RhoA-specific
                     guanine nucleotide exchange factor; RhoGEF glutamate
                     transport modulator; glutamate transporter
                     EAAT4-associated protein 48; Rho guanine nucleotide
                     exchange factor (GEF) 11"
                     /calculated_mol_wt=171756
     Region          42..116
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(52..55,57,101..102,105..106)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          326..470
                     /region_name="RGS_PDZRhoGEF"
                     /note="Regulator of G protein signaling (RGS) domain found
                     in the PDZ-Rho guanine nucleotide exchange factor (RhoGEF)
                     protein; cd08753"
                     /db_xref="CDD:188707"
     Site            order(326..332,334..336,368..371,458,460..463,465..467,
                     470)
                     /site_type="other"
                     /note="G-alpha-13 interaction site"
                     /db_xref="CDD:188707"
     Region          772..958
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(778,782,881,909..910,913..914,916..917,920..921,
                     924..925,928,954,958)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          976..1118
                     /region_name="PH_PRG"
                     /note="PDZ Rho guanine nucleotide exchange factor
                     Pleckstrin homology (PH) domain; cd13391"
                     /db_xref="CDD:275426"
     Site            order(1015,1069,1071..1072,1074..1075,1081,1083,
                     1085..1087,1089,1092..1093)
                     /site_type="other"
                     /note="activated RhoA binding site [polypeptide binding]"
                     /db_xref="CDD:275426"
     Site            order(1074..1078,1100..1101)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:275426"
     Site            order(1102,1105)
                     /site_type="other"
                     /note="RhoA binding site [polypeptide binding]"
                     /db_xref="CDD:275426"
     Region          1209..>1559
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     CDS             1..1559
                     /gene="ARHGEF11"
                     /gene_synonym="GTRAP48; PDZ-RHOGEF"
                     /coded_by="NM_001377418.1:489..5168"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:9826"
                     /db_xref="HGNC:HGNC:14580"
                     /db_xref="MIM:605708"
ORIGIN      
        1 mpvdakrlss lsslgdsape rkspshhrqp sdasettglv qrcviiqkdq hgfgftvsgd
       61 rivlvqsvrp ggaamkagvk egdriikvng tmvtnsshle vvkliksgay valtllgssp
      121 ssmgisglqq dpspagapri tsvipspppp pplpppqrit gpkplqdpev qkhatqilrn
      181 mlrqeekelq ricevysrnp aslleeqieg arrrvtqlql kiqqetggsv dilplygdts
      241 qrpsegrlsl dsqegdsgld sgterfpsls eslmnrnsvl sdpgldsprt spvimarvaq
      301 hhrrqgsdaa vpstgdqgvd qspkpliigp eedydpgyfn nesdiifqdl eklksrpahl
      361 gvflryifsq adpspllfyl caevyqqasp kdsrslgkdi wnifleknap lrvkipemlq
      421 aeidsrlrns edargvlcea qeaampeiqe qihdyrtkrt lglgslygen dlldldgdpl
      481 rerqvaekql aalgdilsky eedrsapmdf alntymshag irlrearpsn taekaqsapd
      541 kdkwlpffpk tkkqssnskk ekdaledkkr npilkyigkp ksssqstfhi plspvevkpg
      601 nvrniiqhfe nnqqydapep gtqrlstgsf pedllesdss rseirlgrse slkgreemkr
      661 srkaenvprs rsdvdmdaaa eatrlhqsas sstsslstrs lenptppftp kmgrrsiesp
      721 slgfctdtll phlleddlgq lsdlepepda qnwqhtvgkd vvagltqrei drqevinelf
      781 vteashlrtl rvldlifyqr mkkenlmpre elarlfpnlp elieihnswc eamkklreeg
      841 piikeisdlm larfdgpare elqqvaaqfc syqsialeli ktkqrkesrf qlfmqeaesh
      901 pqcrrlqlrd liisemqrlt kyplllesii khteggtseh eklcrardqc reilkyvnea
      961 vkqtenrhrl egyqkrldat alerasnpla aefksldltt rkmihegplt wriskdktld
     1021 lhvllledll vllqkqdekl llkchsktav gssdskqtfs pvlklnavli rsvatdkraf
     1081 fiictsklgp pqiyelvalt ssdkntwmel leeavrnatr hpgaapmpvh ppppgprepa
     1141 qqgptpsrve lddsdvfhge pepeelpggt gsqqrvqgkh qvlledpeqe gsaeeeelgv
     1201 lpcpstsldg enrgirtrnp ihlafpgplf megladsale dvenlrhlil wsllpghtme
     1261 tqaaqepedd ltptpsvisv tshpwdpgsp gqappggegd ntqlaglege rpeqedmglc
     1321 slehlpprtr nsgiwespel drnlaedass teaaggykvv rkaevagskv vpalpesgqs
     1381 epgppevegg tkatgncfyv smpsgppdss tdhseapmsp pqpdslpagq tepqpqlqgg
     1441 nddprrpsrs ppslalrdvg mifhtieqlt lklnrlkdme lahrellksl ggessggttp
     1501 vgsfhteaar wtdgslsppa keplasdsrn shelgpcped gsdapledst adaaaspgp
//
LOCUS       NP_001341425             532 aa            linear   PRI 29-DEC-2022
DEFINITION  chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Homo
            sapiens].
ACCESSION   NP_001341425 XP_006716422
VERSION     NP_001341425.1
DBSOURCE    REFSEQ: accession NM_001354496.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 532)
  AUTHORS   Mizumoto S, Janecke AR, Sadeghpour A, Povysil G, McDonald MT, Unger
            S, Greber-Platzer S, Deak KL, Katsanis N, Superti-Furga A, Sugahara
            K, Davis EE, Yamada S and Vodopiutz J.
  TITLE     CSGALNACT1-congenital disorder of glycosylation: A mild skeletal
            dysplasia with advanced bone age
  JOURNAL   Hum Mutat 41 (3), 655-667 (2020)
   PUBMED   31705726
  REMARK    GeneRIF: CSGALNACT1-congenital disorder of glycosylation: A mild
            skeletal dysplasia with advanced bone age.
REFERENCE   2  (residues 1 to 532)
  AUTHORS   Hu B, Xu C, Tian Y, Shi C, Zhang Y, Deng L, Zhou H, Cao P, Chen H
            and Yuan W.
  TITLE     Inflammatory microRNA-194 and -515 attenuate the biosynthesis of
            chondroitin sulfate during human intervertebral disc degeneration
  JOURNAL   Oncotarget 8 (30), 49303-49317 (2017)
   PUBMED   28514734
REFERENCE   3  (residues 1 to 532)
  AUTHORS   Munkley J.
  TITLE     Glycosylation is a global target for androgen control in prostate
            cancer cells
  JOURNAL   Endocr Relat Cancer 24 (3), R49-R64 (2017)
   PUBMED   28159857
  REMARK    Review article
REFERENCE   4  (residues 1 to 532)
  AUTHORS   Vodopiutz J, Mizumoto S, Lausch E, Rossi A, Unger S, Janocha N,
            Costantini R, Seidl R, Greber-Platzer S, Yamada S, Muller T, Jilma
            B, Ganger R, Superti-Furga A, Ikegawa S, Sugahara K and Janecke AR.
  TITLE     Chondroitin Sulfate N-acetylgalactosaminyltransferase-1
            (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and
            Joint Laxity
  JOURNAL   Hum Mutat 38 (1), 34-38 (2017)
   PUBMED   27599773
REFERENCE   5  (residues 1 to 532)
  AUTHORS   Saigoh K, Yoshimura S, Izumikawa T, Miyata S, Tabara Y, Matsushita
            T, Miki T, Miyamoto K, Hirano M, Kitagawa H, Kira J and Kusunoki S.
  TITLE     Chondroitin sulfate beta-1,4-N-acetylgalactosaminyltransferase-1
            (ChGn-1) polymorphism: Association with progression of multiple
            sclerosis
  JOURNAL   Neurosci Res 108, 55-59 (2016)
   PUBMED   26806424
  REMARK    GeneRIF: In men, patients who had multiple sclerosis (MS) with
            S126L had a slower disease progression. This cSNP might be
            associated with the sex differences in clinical course of MS.
REFERENCE   6  (residues 1 to 532)
  AUTHORS   Ritelli M, Chiarelli N, Zoppi N, Dordoni C, Quinzani S, Traversa M,
            Venturini M, Calzavara-Pinton P and Colombi M.
  TITLE     Insights in the etiopathology of galactosyltransferase II (GalT-II)
            deficiency from transcriptome-wide expression profiling of skin
            fibroblasts of two sisters with compound heterozygosity for two
            novel B3GALT6 mutations
  JOURNAL   Mol Genet Metab Rep 2, 1-15 (2014)
   PUBMED   28649518
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 532)
  AUTHORS   Sato T, Gotoh M, Kiyohara K, Akashima T, Iwasaki H, Kameyama A,
            Mochizuki H, Yada T, Inaba N, Togayachi A, Kudo T, Asada M,
            Watanabe H, Imamura T, Kimata K and Narimatsu H.
  TITLE     Differential roles of two N-acetylgalactosaminyltransferases,
            CSGalNAcT-1, and a novel enzyme, CSGalNAcT-2. Initiation and
            elongation in synthesis of chondroitin sulfate
  JOURNAL   J Biol Chem 278 (5), 3063-3071 (2003)
   PUBMED   12446672
  REMARK    GeneRIF: plays a role in the initiation and elongation in the
            synthesis of chondroitin sulfate
REFERENCE   8  (residues 1 to 532)
  AUTHORS   Gotoh M, Sato T, Akashima T, Iwasaki H, Kameyama A, Mochizuki H,
            Yada T, Inaba N, Zhang Y, Kikuchi N, Kwon YD, Togayachi A, Kudo T,
            Nishihara S, Watanabe H, Kimata K and Narimatsu H.
  TITLE     Enzymatic synthesis of chondroitin with a novel chondroitin sulfate
            N-acetylgalactosaminyltransferase that transfers
            N-acetylgalactosamine to glucuronic acid in initiation and
            elongation of chondroitin sulfate synthesis
  JOURNAL   J Biol Chem 277 (41), 38189-38196 (2002)
   PUBMED   12163485
  REMARK    GeneRIF: These results suggest that this enzyme has
            N-acetylgalactosaminyltransferase activity in both the elongation
            and initiation of chondroitin sulfate synthesis.
REFERENCE   9  (residues 1 to 532)
  AUTHORS   Uyama T, Kitagawa H, Tamura Ji J and Sugahara K.
  TITLE     Molecular cloning and expression of human chondroitin
            N-acetylgalactosaminyltransferase: the key enzyme for chain
            initiation and elongation of chondroitin/dermatan sulfate on the
            protein linkage region tetrasaccharide shared by heparin/heparan
            sulfate
  JOURNAL   J Biol Chem 277 (11), 8841-8846 (2002)
   PUBMED   11788602
REFERENCE   10 (residues 1 to 532)
  AUTHORS   Kitagawa H, Uyama T and Sugahara K.
  TITLE     Molecular cloning and expression of a human chondroitin synthase
  JOURNAL   J Biol Chem 276 (42), 38721-38726 (2001)
   PUBMED   11514575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA244956.1, AC116376.4,
            AC090786.6 and BQ016671.1.
            On Aug 29, 2017 this sequence version replaced XP_006716422.1.
            
            Summary: This gene encodes an enzyme that transfers
            N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and
            to elongating chondroitin sulfate chains in proteoglycans. Knockout
            of the orthologous mouse gene indicates that the protein is
            necessary for normal cartilage development and aggrecan metabolism.
            Mutations in this gene are associated with multiple sclerosis
            progression, and with mild skeletal dysplasia and joint laxity.
            [provided by RefSeq, Aug 2017].
            
            Transcript Variant: This variant (20) differs in the 5' UTR
            compared to variant 1. Variants 1, 2 and 4 through 23 all encode
            the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.67087.1,
                                           SRR1803616.18397.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144120, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..532
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     Protein         1..532
                     /product="chondroitin sulfate
                     N-acetylgalactosaminyltransferase 1"
                     /EC_number="2.4.1.174"
                     /note="chondroitin beta1,4
                     N-acetylgalactosaminyltransferase; beta4GalNAcT-1;
                     chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1;
                     glucuronylgalactosylproteoglycan 4-beta-N-
                     acetylgalactosaminyltransferase"
                     /calculated_mol_wt=61164
     Site            15..35
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDX6.2)"
     Region          70..507
                     /region_name="Glyco_tranf_GTA_type"
                     /note="Glycosyltransferase family A (GT-A) includes
                     diverse families of glycosyl transferases with a common
                     GT-A type structural fold; cl11394"
                     /db_xref="CDD:448240"
     Site            315
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TDX6.2)"
     Site            324
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TDX6.2)"
     CDS             1..532
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /coded_by="NM_001354496.2:785..2383"
                     /db_xref="CCDS:CCDS6010.1"
                     /db_xref="GeneID:55790"
                     /db_xref="HGNC:HGNC:24290"
                     /db_xref="MIM:616615"
ORIGIN      
        1 mmmvrrglla wisrvvvllv llccaisvly mlactpkgde eqlalprans ptgkegyqav
       61 lqeweeqhrn yvsslkrqia qlkeelqers eqlrngqyqa sdaaglgldr sppektqadl
      121 laflhsqvdk aevnagvkla teyaavpfds ftlqkvyqle tgltrhpeek pvrkdkrdel
      181 veaiesalet lnspaenspn hrpytasdfi egiyrterdk gtlyeltfkg dhkhefkrli
      241 lfrpfgpimk vkneklnman tlinvivpla krvdkfrqfm qnfremcieq dgrvhltvvy
      301 fgkeeinevk gilentskaa nfrnftfiql ngefsrgkgl dvgarfwkgs nvllffcdvd
      361 iyftseflnt crlntqpgkk vfypvlfsqy npgiiyghhd avppleqqlv ikketgfwrd
      421 fgfgmtcqyr sdfiniggfd ldikgwgged vhlyrkylhs nlivvrtpvr glfhlwhekr
      481 cmdeltpeqy kmcmqskamn eashgqlgml vfrheieahl rkqkqktssk kt
//
LOCUS       NP_001371066             440 aa            linear   PRI 29-DEC-2022
DEFINITION  docking protein 3 isoform 1 [Homo sapiens].
ACCESSION   NP_001371066 XP_011532956
VERSION     NP_001371066.1
DBSOURCE    REFSEQ: accession NM_001384137.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 440)
  AUTHORS   Li CX, Su Y, Gong ZC and Liu H.
  TITLE     Porphyromonas gingivalis Activation of Tumor-Associated Macrophages
            via DOK3 Promotes Recurrence of Oral Squamous Cell Carcinoma
  JOURNAL   Med Sci Monit 28, e937126 (2022)
   PUBMED   36210538
  REMARK    GeneRIF: Porphyromonas gingivalis Activation of Tumor-Associated
            Macrophages via DOK3 Promotes Recurrence of Oral Squamous Cell
            Carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 440)
  AUTHORS   Loh JT, Teo JKH and Lam KP.
  TITLE     Dok3 restrains neutrophil production of calprotectin during TLR4
            sensing of SARS-CoV-2 spike protein
  JOURNAL   Front Immunol 13, 996637 (2022)
   PUBMED   36172386
  REMARK    GeneRIF: Dok3 restrains neutrophil production of calprotectin
            during TLR4 sensing of SARS-CoV-2 spike protein.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 440)
  AUTHORS   Liu X, Chen F and Li W.
  TITLE     Elevated expression of DOK3 indicates high suppressive immune cell
            infiltration and unfavorable prognosis of gliomas
  JOURNAL   Int Immunopharmacol 83, 106400 (2020)
   PUBMED   32193105
  REMARK    GeneRIF: Elevated expression of DOK3 indicates high suppressive
            immune cell infiltration and unfavorable prognosis of gliomas.
REFERENCE   4  (residues 1 to 440)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 440)
  AUTHORS   Honma M, Higuchi O, Shirakata M, Yasuda T, Shibuya H, Iemura S,
            Natsume T and Yamanashi Y.
  TITLE     Dok-3 sequesters Grb2 and inhibits the Ras-Erk pathway downstream
            of protein-tyrosine kinases
  JOURNAL   Genes Cells 11 (2), 143-151 (2006)
   PUBMED   16436051
  REMARK    GeneRIF: findings indicate that Dok-3 sequesters Grb2 from Shc and
            inhibits the Ras-Erk pathway downstream of PTKs
REFERENCE   6  (residues 1 to 440)
  AUTHORS   Robson JD, Davidson D and Veillette A.
  TITLE     Inhibition of the Jun N-terminal protein kinase pathway by SHIP-1,
            a lipid phosphatase that interacts with the adaptor molecule Dok-3
  JOURNAL   Mol Cell Biol 24 (6), 2332-2343 (2004)
   PUBMED   14993273
REFERENCE   7  (residues 1 to 440)
  AUTHORS   Favre C, Gerard A, Clauzier E, Pontarotti P, Olive D and Nunes JA.
  TITLE     DOK4 and DOK5: new Dok-related genes expressed in human T cells
  JOURNAL   Genes Immun 4 (1), 40-45 (2003)
   PUBMED   12595900
REFERENCE   8  (residues 1 to 440)
  AUTHORS   Grimm J, Sachs M, Britsch S, Di Cesare S, Schwarz-Romond T, Alitalo
            K and Birchmeier W.
  TITLE     Novel p62dok family members, dok-4 and dok-5, are substrates of the
            c-Ret receptor tyrosine kinase and mediate neuronal differentiation
  JOURNAL   J Cell Biol 154 (2), 345-354 (2001)
   PUBMED   11470823
REFERENCE   9  (residues 1 to 440)
  AUTHORS   Lemay S, Davidson D, Latour S and Veillette A.
  TITLE     Dok-3, a novel adapter molecule involved in the negative regulation
            of immunoreceptor signaling
  JOURNAL   Mol Cell Biol 20 (8), 2743-2754 (2000)
   PUBMED   10733577
REFERENCE   10 (residues 1 to 440)
  AUTHORS   Cong F, Yuan B and Goff SP.
  TITLE     Characterization of a novel member of the DOK family that binds and
            modulates Abl signaling
  JOURNAL   Mol Cell Biol 19 (12), 8314-8325 (1999)
   PUBMED   10567556
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC145098.2.
            On Jun 1, 2020 this sequence version replaced XP_011532956.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.2440100.1,
                                           SRR18074968.11716.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..440
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     Protein         1..440
                     /product="docking protein 3 isoform 1"
                     /note="Dok-like protein; downstream of tyrosine kinase 3"
                     /calculated_mol_wt=47471
     Region          9..123
                     /region_name="PH_DOK1,2,3"
                     /note="Pleckstrin homology (PH) domain of Downstream of
                     tyrosine kinase 1, 2, and 3; cd14676"
                     /db_xref="CDD:270195"
     Region          157..255
                     /region_name="PTB_DOK1_DOK2_DOK3"
                     /note="Downstream of tyrosine kinase 1, 2, and 3 proteins
                     phosphotyrosine-binding domain (PTBi); cd01203"
                     /db_xref="CDD:269914"
     Site            order(167,173)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269914"
     Site            order(205..213,219,223..224,244,251,254)
                     /site_type="other"
                     /note="phosphopeptide binding site [polypeptide binding]"
                     /db_xref="CDD:269914"
     CDS             1..440
                     /gene="DOK3"
                     /gene_synonym="DOKL"
                     /coded_by="NM_001384137.1:105..1427"
                     /note="isoform 1 is encoded by transcript variant 12"
                     /db_xref="CCDS:CCDS78098.1"
                     /db_xref="GeneID:79930"
                     /db_xref="HGNC:HGNC:24583"
                     /db_xref="MIM:611435"
ORIGIN      
        1 mdpletpikd gilyqqhvkf gkkcwrkvwa llyaggpsgv arleswevrd gglgaagdrs
       61 agpgrrgerr virladcvsv lpadgescpr dtgafllttt ershllaaqh rqawmgpicq
      121 lafpgtgeas sgstdaqspk rglvpmeens iysswqevge fpvvvqrtea atrcqlkgpa
      181 llvlgpdaiq lreakgtqal yswpyhflrk fgsdkgvfsf eagrrchsge glfafstpca
      241 pdlcravaga iarqrerlpe ltrpqpcplp ratslpsldt pgelremppg pepptsrkmh
      301 laepgpqslp lllgpepndl asglyasvck rasgppgneh lyenlcvlea sptlhggepe
      361 phegpgsrsp ttspiyhngq dlswpgpand stleaqyrrl leldqvegtg rpdpqagfka
      421 klvtllsrer rkgpapcdrp
//
LOCUS       NP_001374816             710 aa            linear   PRI 30-DEC-2022
DEFINITION  protein mono-ADP-ribosyltransferase PARP9 isoform c [Homo sapiens].
ACCESSION   NP_001374816
VERSION     NP_001374816.1
DBSOURCE    REFSEQ: accession NM_001387887.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 710)
  AUTHORS   Russo LC, Tomasin R, Matos IA, Manucci AC, Sowa ST, Dale K,
            Caldecott KW, Lehtio L, Schechtman D, Meotti FC, Bruni-Cardoso A
            and Hoch NC.
  TITLE     The SARS-CoV-2 Nsp3 macrodomain reverses PARP9/DTX3L-dependent
            ADP-ribosylation induced by interferon signaling
  JOURNAL   J Biol Chem 297 (3), 101041 (2021)
   PUBMED   34358560
  REMARK    GeneRIF: The SARS-CoV-2 Nsp3 macrodomain reverses
            PARP9/DTX3L-dependent ADP-ribosylation induced by interferon
            signaling.
REFERENCE   2  (residues 1 to 710)
  AUTHORS   Xing J, Zhang A, Du Y, Fang M, Minze LJ, Liu YJ, Li XC and Zhang Z.
  TITLE     Identification of poly(ADP-ribose) polymerase 9 (PARP9) as a
            noncanonical sensor for RNA virus in dendritic cells
  JOURNAL   Nat Commun 12 (1), 2681 (2021)
   PUBMED   33976210
  REMARK    GeneRIF: Identification of poly(ADP-ribose) polymerase 9 (PARP9) as
            a noncanonical sensor for RNA virus in dendritic cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 710)
  AUTHORS   Yang CS, Jividen K, Kamata T, Dworak N, Oostdyk L, Remlein B,
            Pourfarjam Y, Kim IK, Du KP, Abbas T, Sherman NE, Wotton D and
            Paschal BM.
  TITLE     Androgen signaling uses a writer and a reader of ADP-ribosylation
            to regulate protein complex assembly
  JOURNAL   Nat Commun 12 (1), 2705 (2021)
   PUBMED   33976187
  REMARK    GeneRIF: Androgen signaling uses a writer and a reader of
            ADP-ribosylation to regulate protein complex assembly.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 710)
  AUTHORS   Nowak K, Rosenthal F, Karlberg T, Butepage M, Thorsell AG, Dreier
            B, Grossmann J, Sobek J, Imhof R, Luscher B, Schuler H, Pluckthun
            A, Leslie Pedrioli DM and Hottiger MO.
  TITLE     Engineering Af1521 improves ADP-ribose binding and identification
            of ADP-ribosylated proteins
  JOURNAL   Nat Commun 11 (1), 5199 (2020)
   PUBMED   33060572
  REMARK    GeneRIF: Engineering Af1521 improves ADP-ribose binding and
            identification of ADP-ribosylated proteins.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 710)
  AUTHORS   Xu H, Chai S, Wang Y, Wang J, Xiao D, Li J and Xiong N.
  TITLE     Molecular and clinical characterization of PARP9 in gliomas: A
            potential immunotherapeutic target
  JOURNAL   CNS Neurosci Ther 26 (8), 804-814 (2020)
   PUBMED   32678519
  REMARK    GeneRIF: Molecular and clinical characterization of PARP9 in
            gliomas: A potential immunotherapeutic target.
REFERENCE   6  (residues 1 to 710)
  AUTHORS   Jha R, Agarwal A, Mahfouz R, Paasch U, Grunewald S, Sabanegh E,
            Yadav SP and Sharma R.
  TITLE     Determination of Poly (ADP-ribose) polymerase (PARP) homologues in
            human ejaculated sperm and its correlation with sperm maturation
  JOURNAL   Fertil Steril 91 (3), 782-790 (2009)
   PUBMED   18339380
  REMARK    GeneRIF: Determination of Poly (ADP-ribose) polymerase (PARP)
            homologues in human ejaculated sperm and its correlation with sperm
            maturation.
REFERENCE   7  (residues 1 to 710)
  AUTHORS   Juszczynski P, Kutok JL, Li C, Mitra J, Aguiar RC and Shipp MA.
  TITLE     BAL1 and BBAP are regulated by a gamma interferon-responsive
            bidirectional promoter and are overexpressed in diffuse large
            B-cell lymphomas with a prominent inflammatory infiltrate
  JOURNAL   Mol Cell Biol 26 (14), 5348-5359 (2006)
   PUBMED   16809771
  REMARK    GeneRIF: BAL1 and BBAP are located on chromosome 3q21 in a
            head-to-head orientation and are regulated by a
            IFN-gamma-responsive bidirectional promoter.
REFERENCE   8  (residues 1 to 710)
  AUTHORS   Aguiar RC, Takeyama K, He C, Kreinbrink K and Shipp MA.
  TITLE     B-aggressive lymphoma family proteins have unique domains that
            modulate transcription and exhibit poly(ADP-ribose) polymerase
            activity
  JOURNAL   J Biol Chem 280 (40), 33756-33765 (2005)
   PUBMED   16061477
REFERENCE   9  (residues 1 to 710)
  AUTHORS   Takeyama K, Aguiar RC, Gu L, He C, Freeman GJ, Kutok JL, Aster JC
            and Shipp MA.
  TITLE     The BAL-binding protein BBAP and related Deltex family members
            exhibit ubiquitin-protein isopeptide ligase activity
  JOURNAL   J Biol Chem 278 (24), 21930-21937 (2003)
   PUBMED   12670957
REFERENCE   10 (residues 1 to 710)
  AUTHORS   Aguiar RC, Yakushijin Y, Kharbanda S, Salgia R, Fletcher JA and
            Shipp MA.
  TITLE     BAL is a novel risk-related gene in diffuse large B-cell lymphomas
            that enhances cellular migration
  JOURNAL   Blood 96 (13), 4328-4334 (2000)
   PUBMED   11110709
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092908.9.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853558.17839.1,
                                           SRR18074969.1682477.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..710
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.1"
     Protein         1..710
                     /product="protein mono-ADP-ribosyltransferase PARP9
                     isoform c"
                     /EC_number="2.4.2.30"
                     /note="poly [ADP-ribose] polymerase 9; poly (ADP-ribose)
                     polymerase 9; PARP-9; b aggressive lymphoma protein;
                     ADP-ribosyltransferase diphtheria toxin-like 9; protein
                     mono-ADP-ribosyltransferase PARP9"
                     /calculated_mol_wt=80160
     Region          82..242
                     /region_name="Macro_Af1521_BAL-like"
                     /note="macrodomain, Af1521-like family; cd02907"
                     /db_xref="CDD:394877"
     Site            order(90..92,103..105,109..115,117,203..209)
                     /site_type="other"
                     /note="ADP-ribose binding site [chemical binding]"
                     /db_xref="CDD:394877"
     Region          275..451
                     /region_name="Macro_BAL-like"
                     /note="macrodomain, B-aggressive lymphoma (BAL)-like
                     family; cd02903"
                     /db_xref="CDD:394874"
     Site            order(290..292,302..304,310..313,316,394..400,434,440)
                     /site_type="other"
                     /note="ADP-ribose binding site [chemical binding]"
                     /db_xref="CDD:394874"
     Region          667..>695
                     /region_name="ADP_ribosyl"
                     /note="ADP_ribosylating enzymes catalyze the transfer of
                     ADP_ribose from NAD+ to substrates. Bacterial toxins are
                     cytoplasmic and catalyze the transfer of a single
                     ADP_ribose unit to eukaryotic elongation factor 2, halting
                     protein synthesis and killing the cell; cl00283"
                     /db_xref="CDD:444809"
     CDS             1..710
                     /gene="PARP9"
                     /gene_synonym="ARTD9; BAL; BAL1; MGC:7868"
                     /coded_by="NM_001387887.1:146..2278"
                     /note="isoform c is encoded by transcript variant 14"
                     /db_xref="CCDS:CCDS54633.1"
                     /db_xref="GeneID:83666"
                     /db_xref="HGNC:HGNC:24118"
                     /db_xref="MIM:612065"
ORIGIN      
        1 mdfsmvagaa ayneksetga lgenyswqip inhndfkilk nnerqlcevl qnkfgcistl
       61 vspvqegnsk slqvfrkmlt prielsvwkd dltthavdav vnaanedllh ggglalalvk
      121 aggfeiqees kqfvarygkv sageiavtga grlpckqiih avgprwmewd kqgctgklqr
      181 aivsilnyvi yknthiktva ipalssgifq fplnlctkti vetirvslqg kpmmsnlkei
      241 hlvsnedptv aafkaasefi lgkselgqet tpsfnamvvn nltlqivqgh iewqtadviv
      301 nsvnphditv gpvaksilqq agvemksefl atkakqfqrs qlvlvtkgfn lfckyiyhvl
      361 whsefpkpqi lkhamkecle kcieqnitsi sfpalgtgnm eikketaaei lfdevltfak
      421 dhvkhqltvk fvifptdlei ykafssemak rskmlslnny svpqstreek renglearsp
      481 ainlmgfnve emyeahawiq rilslqnhhi iennhilylg rkehdilsql qktssvsite
      541 iispgrtele iegaradlie vvmniedmlc kvqeemarkk erglwrslgq wtiqqqktqd
      601 emkeniiflk cpvpptqell dqkkqfekcg lqvlkvekid nevlmaafqr kkkmmeeklh
      661 rqpvshrlfq qvpyqfcnvv crvgfqrmys tpcgrcqcli igatlwnlvs
//
LOCUS       NP_001342336             181 aa            linear   PRI 31-DEC-2022
DEFINITION  diphosphoinositol polyphosphate phosphohydrolase NUDT4B [Homo
            sapiens].
ACCESSION   NP_001342336 XP_496393
VERSION     NP_001342336.1
DBSOURCE    REFSEQ: accession NM_001355407.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 181)
  AUTHORS   Caffrey JJ and Shears SB.
  TITLE     Genetic rationale for microheterogeneity of human diphosphoinositol
            polyphosphate phosphohydrolase type 2
  JOURNAL   Gene 269 (1-2), 53-60 (2001)
   PUBMED   11376937
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC245389.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript is intronless :: SRR1660809.16751.1, SRR1660805.112162.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322209.5/ ENSP00000492425.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..181
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     Protein         1..181
                     /product="diphosphoinositol polyphosphate phosphohydrolase
                     NUDT4B"
                     /EC_number="3.6.1.52"
                     /note="nudix (nucleoside diphosphate linked moiety X)-type
                     motif 4 pseudogene 1; nudix motif 4B; nucleoside
                     diphosphate-linked moiety X motif 4B"
                     /calculated_mol_wt=20303
     Region          19..138
                     /region_name="Nudix_Hydrolase_9"
                     /note="Members of the Nudix hydrolase superfamily catalyze
                     the hydrolysis of NUcleoside DIphosphates linked to other
                     moieties, X. Enzymes belonging to this superfamily require
                     a divalent cation, such as Mg2+ or Mn2+, for their
                     activity and contain a highly...; cd04666"
                     /db_xref="CDD:240024"
     Site            51..73
                     /site_type="other"
                     /note="nudix motif"
                     /db_xref="CDD:240024"
     Region          51..72
                     /region_name="Nudix box.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00794"
                     /note="propagated from UniProtKB/Swiss-Prot
                     (A0A024RBG1.1)"
     CDS             1..181
                     /gene="NUDT4B"
                     /gene_synonym="DIPP-2B; NUDT4P1"
                     /coded_by="NM_001355407.2:180..725"
                     /db_xref="CCDS:CCDS86013.1"
                     /db_xref="GeneID:440672"
                     /db_xref="HGNC:HGNC:18012"
ORIGIN      
        1 mmkfkpnqtr tydregfkkr aaclcfrseq edevllvsss rypdqwivpg ggmepeeepg
       61 gaavrevyee agvkgklgrl lgifeqnqdr khrtyvyvlt vteiledwed svnigrkrew
      121 fkvedaikvl qchkpvhaey leklklgcsp angnstvpsl pdnnalfvta aqtsglpssv
      181 r
//
LOCUS       NP_001380746             197 aa            linear   PRI 31-DEC-2022
DEFINITION  adipogenin isoform b [Homo sapiens].
ACCESSION   NP_001380746
VERSION     NP_001380746.1
DBSOURCE    REFSEQ: accession NM_001393817.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 197)
  AUTHORS   Hong YH, Hishikawa D, Miyahara H, Tsuzuki H, Nishimura Y, Gotoh C,
            Choi KC, Hokari Y, Takagi Y, Lee HG, Cho KK, Roh SG and Sasaki S.
  TITLE     Up-regulation of adipogenin, an adipocyte plasma transmembrane
            protein, during adipogenesis
  JOURNAL   Mol Cell Biochem 276 (1-2), 133-141 (2005)
   PUBMED   16132694
REFERENCE   2  (residues 1 to 197)
  AUTHORS   Kim JY, Tillison K and Smas CM.
  TITLE     Cloning, expression, and differentiation-dependent regulation of
            SMAF1 in adipogenesis
  JOURNAL   Biochem Biophys Res Commun 326 (1), 36-44 (2005)
   PUBMED   15567149
  REMARK    GeneRIF: Studies in mouse indicate the 80 aa SMAF1 protein is
            involved in adipocyte tissue function or regulation.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL035419.12.
            
            Summary: ADIG/SMAF1 is an adipocyte-specific protein that plays a
            role in adipocyte differentiation (Kim et al., 2005 [PubMed
            15567149]; Hong et al., 2005 [PubMed 16132694]).[supplied by OMIM,
            Mar 2008].
            
            Transcript Variant: This variant (2) encodes the longer isoform
            (b).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AI990489.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..197
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     Protein         1..197
                     /product="adipogenin isoform b"
                     /note="adipogenesis associated; small adipocyte factor 1
                     (SMAF1)"
                     /calculated_mol_wt=21873
     Region          1..78
                     /region_name="Adipogenin"
                     /note="pfam15202"
                     /db_xref="CDD:317593"
     Site            14..34
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0VDE8.1)"
     CDS             1..197
                     /gene="ADIG"
                     /gene_synonym="SMAF1"
                     /coded_by="NM_001393817.1:55..648"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS93039.1"
                     /db_xref="GeneID:149685"
                     /db_xref="HGNC:HGNC:28606"
                     /db_xref="MIM:611396"
ORIGIN      
        1 mkyplmplvn dltfsflvfw fclpvgllll liiwlrflls qdseendssv cldwepwskg
       61 paefcwkgtl hgqekerpcc lvflesagqw qwqkwmgetc qggkrtlatv vppwnpqlis
      121 ssdrhvkasr gpspspasqm tsspagsrss lgghgsseqa hgeklanliq rglkaglgrr
      181 vwvhikearv fpypgdp
//
LOCUS       NP_001339547             503 aa            linear   PRI 31-DEC-2022
DEFINITION  myocyte-specific enhancer factor 2A isoform 6 [Homo sapiens].
ACCESSION   NP_001339547 XP_005254971
VERSION     NP_001339547.1
DBSOURCE    REFSEQ: accession NM_001352618.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 503)
  AUTHORS   Gao Y, Liu Y, Zheng D, Ho C, Wen D, Sun J, Huang L, Liu Y, Li Q and
            Zhang Y.
  TITLE     HDAC5-mediated Smad7 silencing through MEF2A is critical for
            fibroblast activation and hypertrophic scar formation
  JOURNAL   Int J Biol Sci 18 (15), 5724-5739 (2022)
   PUBMED   36263180
  REMARK    GeneRIF: HDAC5-mediated Smad7 silencing through MEF2A is critical
            for fibroblast activation and hypertrophic scar formation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 503)
  AUTHORS   Zhang D, Zhang G, Yu K, Zhang X and Jiang A.
  TITLE     MiRNA-615-3p Alleviates Oxidative Stress Injury of Human
            Cardiomyocytes Via PI3K/Akt Signaling by Targeting MEF2A
  JOURNAL   Anatol J Cardiol 26 (5), 373-381 (2022)
   PUBMED   35552173
  REMARK    GeneRIF: MiRNA-615-3p Alleviates Oxidative Stress Injury of Human
            Cardiomyocytes Via PI3K/Akt Signaling by Targeting MEF2A.
REFERENCE   3  (residues 1 to 503)
  AUTHORS   Cilenti F, Barbiera G, Caronni N, Iodice D, Montaldo E, Barresi S,
            Lusito E, Cuzzola V, Vittoria FM, Mezzanzanica L, Miotto P, Di
            Lucia P, Lazarevic D, Cirillo DM, Iannacone M, Genua M and Ostuni
            R.
  TITLE     A PGE2-MEF2A axis enables context-dependent control of inflammatory
            gene expression
  JOURNAL   Immunity 54 (8), 1665-1682 (2021)
   PUBMED   34129840
  REMARK    GeneRIF: A PGE2-MEF2A axis enables context-dependent control of
            inflammatory gene expression.
REFERENCE   4  (residues 1 to 503)
  AUTHORS   Xiao Q, Gan Y, Li Y, Fan L, Liu J, Lu P, Liu J, Chen A, Shu G and
            Yin G.
  TITLE     MEF2A transcriptionally upregulates the expression of ZEB2 and
            CTNNB1 in colorectal cancer to promote tumor progression
  JOURNAL   Oncogene 40 (19), 3364-3377 (2021)
   PUBMED   33863999
  REMARK    GeneRIF: MEF2A transcriptionally upregulates the expression of ZEB2
            and CTNNB1 in colorectal cancer to promote tumor progression.
REFERENCE   5  (residues 1 to 503)
  AUTHORS   Chen W, Zhang K, Yang Y, Guo Z, Wang X, Teng B, Zhao Q, Huang C and
            Qiu Z.
  TITLE     MEF2A-mediated lncRNA HCP5 Inhibits Gastric Cancer Progression via
            MiR-106b-5p/p21 Axis
  JOURNAL   Int J Biol Sci 17 (2), 623-634 (2021)
   PUBMED   33613117
  REMARK    GeneRIF: MEF2A-mediated lncRNA HCP5 Inhibits Gastric Cancer
            Progression via MiR-106b-5p/p21 Axis.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 503)
  AUTHORS   Han TH and Prywes R.
  TITLE     Regulatory role of MEF2D in serum induction of the c-jun promoter
  JOURNAL   Mol Cell Biol 15 (6), 2907-2915 (1995)
   PUBMED   7760790
REFERENCE   7  (residues 1 to 503)
  AUTHORS   Kaushal S, Schneider JW, Nadal-Ginard B and Mahdavi V.
  TITLE     Activation of the myogenic lineage by MEF2A, a factor that induces
            and cooperates with MyoD
  JOURNAL   Science 266 (5188), 1236-1240 (1994)
   PUBMED   7973707
REFERENCE   8  (residues 1 to 503)
  AUTHORS   Funk WD and Wright WE.
  TITLE     Cyclic amplification and selection of targets for multicomponent
            complexes: myogenin interacts with factors recognizing binding
            sites for basic helix-loop-helix, nuclear factor 1,
            myocyte-specific enhancer-binding factor 2, and COMP1 factor
  JOURNAL   Proc Natl Acad Sci U S A 89 (20), 9484-9488 (1992)
   PUBMED   1329097
REFERENCE   9  (residues 1 to 503)
  AUTHORS   Yu YT, Breitbart RE, Smoot LB, Lee Y, Mahdavi V and Nadal-Ginard B.
  TITLE     Human myocyte-specific enhancer factor 2 comprises a group of
            tissue-restricted MADS box transcription factors
  JOURNAL   Genes Dev 6 (9), 1783-1798 (1992)
   PUBMED   1516833
REFERENCE   10 (residues 1 to 503)
  AUTHORS   Pollock R and Treisman R.
  TITLE     Human SRF-related proteins: DNA-binding properties and potential
            regulatory targets
  JOURNAL   Genes Dev 5 (12A), 2327-2341 (1991)
   PUBMED   1748287
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC103967.4 and AC022692.11.
            On Jun 20, 2017 this sequence version replaced XP_005254971.1.
            
            Summary: The protein encoded by this gene is a DNA-binding
            transcription factor that activates many muscle-specific, growth
            factor-induced, and stress-induced genes. The encoded protein can
            act as a homodimer or as a heterodimer and is involved in several
            cellular processes, including muscle development, neuronal
            differentiation, cell growth control, and apoptosis. Defects in
            this gene could be a cause of autosomal dominant coronary artery
            disease 1 with myocardial infarction (ADCAD1). Several transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Jan 2010].
            
            Sequence Note:.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1946551.1,
                                           SRR18074967.3129515.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..503
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     Protein         1..503
                     /product="myocyte-specific enhancer factor 2A isoform 6"
                     /note="MADS box transcription enhancer factor 2,
                     polypeptide A (myocyte enhancer factor 2A);
                     myocyte-specific enhancer factor 2A; serum response
                     factor-like protein 1"
                     /calculated_mol_wt=54137
     Region          2..78
                     /region_name="MADS_MEF2_like"
                     /note="MEF2 (myocyte enhancer factor 2)-like/Type II
                     subfamily of MADS (MCM1, Agamous, Deficiens, and SRF
                     (serum response factor) box family of eukaryotic
                     transcriptional regulators. Binds DNA and exists as hetero
                     and homo-dimers. Differs from SRF-like/Type I...; cd00265"
                     /db_xref="CDD:238165"
     Site            order(2..4,6,8,13,15,19..20,23..24,26..27,30..31,33..34,
                     38)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238165"
     Site            order(21,28..29,32..33,35..36,39,44,46,48,54,56,62,65..66,
                     69,72..73)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238165"
     Site            59
                     /site_type="other"
                     /note="putative phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:238165"
     Region          97..158
                     /region_name="HJURP_C"
                     /note="Holliday junction regulator protein family
                     C-terminal repeat; pfam12347"
                     /db_xref="CDD:432495"
     CDS             1..503
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /coded_by="NM_001352618.4:346..1857"
                     /note="isoform 6 is encoded by transcript variant 11"
                     /db_xref="GeneID:4205"
                     /db_xref="HGNC:HGNC:6993"
                     /db_xref="MIM:600660"
ORIGIN      
        1 mgrkkiqitr imdernrqvt ftkrkfglmk kayelsvlcd ceialiifns snklfqyast
       61 dmdkvllkyt eynephesrt nsdivealnk kehrgcdspd pdtsyvltph teekykkine
      121 efdnmmrnhk iavstkpglp pqnfsmsvtv pvtspnalsy tnpgsslvsp slaasstltd
      181 ssmlsppqtt lhrnvspgap qrppstgnag gmlsttdltv pngagsspvg ngfvnsrasp
      241 nligatgans lgkvmptksp pppgggnlgm nsrkpdlrvv ippsskgmmp plntqrisss
      301 qatqplatpv vsvttpslpp qglvysampt ayntdyslts adlsalqgfn spgmlslgqv
      361 sawqqhhlgq aalsslvagg qlsqgsnlsi ntnqnisiks epispprdrm tpsgfqqqqq
      421 qqqqqqpppp pqpqpqppqp qprqemgrsp vdslssssss ydgsdredpr gdfhspivlg
      481 rppntedres psvkrmrmda wvt
//
LOCUS       NP_001004759             327 aa            linear   PRI 31-DEC-2022
DEFINITION  olfactory receptor 51T1 [Homo sapiens].
ACCESSION   NP_001004759 XP_377156
VERSION     NP_001004759.2
DBSOURCE    REFSEQ: accession NM_001004759.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 327)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011711.8.
            On Jan 4, 2019 this sequence version replaced NP_001004759.1.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The genomic coordinates were based on alignments.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322049.1/ ENSP00000322679.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..327
                     /product="olfactory receptor 51T1"
                     /note="olfactory receptor OR11-26"
                     /calculated_mol_wt=36867
     Site            5
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NGJ9.1)"
     Site            6
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NGJ9.1)"
     Region          28..301
                     /region_name="7tmA_OR51-like"
                     /note="olfactory receptor family 51 and related proteins,
                     member of the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15222"
                     /db_xref="CDD:320350"
     Region          28..54
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320350"
     Site            28..48
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ9.1)"
     Site            57..77
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ9.1)"
     Region          61..87
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320350"
     Site            order(83,86..87,99..104,106..107,110,155,157..161,197,
                     200..202,204..206,208..209,254,257..258,260..261,264,
                     272..273,275..277,280,283..284)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320350"
     Region          99..129
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320350"
     Site            102..122
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ9.1)"
     Region          142..163
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320350"
     Site            142..162
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ9.1)"
     Region          197..227
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320350"
     Site            199..219
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ9.1)"
     Region          234..264
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320350"
     Site            240..260
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ9.1)"
     Region          273..298
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320350"
     Site            276..296
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ9.1)"
     CDS             1..327
                     /gene="OR51T1"
                     /gene_synonym="OR11-26"
                     /coded_by="NM_001004759.3:1..984"
                     /db_xref="CCDS:CCDS31363.2"
                     /db_xref="GeneID:401665"
                     /db_xref="HGNC:HGNC:15205"
ORIGIN      
        1 maifnnttss ssnflltafp glecahvwis ipvcclytia llgnsmiflv iitkrrlhkp
       61 myyflsmlaa vdlcltittl ptvlgvlwfh areisfkacf iqmffvhafs llessvlvam
      121 afdrfvaicn plnyatiltd rmvlviglvi cirpavfllp llvaintvsf hgghelshpf
      181 cyhpevikyt yskpwissfw glflqlylng tdvlfilfsy vlilrtvlgi varkkqqkal
      241 stcvchicav tifyvplisl slahrlfhst prvlcstlan iylllppvln piiyslktkt
      301 irqamfqllq skgswgfnvr glrgrwd
//
LOCUS       NP_001397965             827 aa            linear   PRI 01-JAN-2023
DEFINITION  alpha-actinin-1 isoform e [Homo sapiens].
ACCESSION   NP_001397965 XP_047287793
VERSION     NP_001397965.1
DBSOURCE    REFSEQ: accession NM_001411036.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 827)
  AUTHORS   Zhang S, Wang J, Chen T, Wang J, Wang Y, Yu Z, Zhao K, Zheng K,
            Chen Y, Wang Z, Li B, Wang C, Huang W, Fu Z and Chen J.
  TITLE     alpha-Actinin1 promotes tumorigenesis and epithelial-mesenchymal
            transition of gastric cancer via the AKT/GSK3beta/beta-Catenin
            pathway
  JOURNAL   Bioengineered 12 (1), 5688-5704 (2021)
   PUBMED   34546849
  REMARK    GeneRIF: alpha-Actinin1 promotes tumorigenesis and
            epithelial-mesenchymal transition of gastric cancer via the
            AKT/GSK3beta/beta-Catenin pathway.
REFERENCE   2  (residues 1 to 827)
  AUTHORS   Kim J, Shanmugasundaram A and Lee DW.
  TITLE     Enhancement of cardiac contractility using gold-coated SU-8
            cantilevers and their application to drug-induced cardiac toxicity
            tests
  JOURNAL   Analyst 146 (22), 6768-6779 (2021)
   PUBMED   34642716
  REMARK    GeneRIF: Enhancement of cardiac contractility using gold-coated
            SU-8 cantilevers and their application to drug-induced cardiac
            toxicity tests.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 827)
  AUTHORS   Ladha FA, Thakar K, Pettinato AM, Legere N, Ghahremani S, Cohn R,
            Romano R, Meredith E, Chen YS and Hinson JT.
  TITLE     Actinin BioID reveals sarcomere crosstalk with oxidative metabolism
            through interactions with IGF2BP2
  JOURNAL   Cell Rep 36 (6), 109512 (2021)
   PUBMED   34380038
  REMARK    GeneRIF: Actinin BioID reveals sarcomere crosstalk with oxidative
            metabolism through interactions with IGF2BP2.
REFERENCE   4  (residues 1 to 827)
  AUTHORS   Burton KM, Johnson KM, Krueger EW, Razidlo GL and McNiven MA.
  TITLE     Distinct forms of the actin cross-linking protein alpha-actinin
            support macropinosome internalization and trafficking
  JOURNAL   Mol Biol Cell 32 (15), 1393-1407 (2021)
   PUBMED   34010028
  REMARK    GeneRIF: Distinct forms of the actin cross-linking protein
            alpha-actinin support macropinosome internalization and
            trafficking.
REFERENCE   5  (residues 1 to 827)
  AUTHORS   Chen Q, Zhou XW, Zhang AJ and He K.
  TITLE     ACTN1 supports tumor growth by inhibiting Hippo signaling in
            hepatocellular carcinoma
  JOURNAL   J Exp Clin Cancer Res 40 (1), 23 (2021)
   PUBMED   33413564
  REMARK    GeneRIF: ACTN1 supports tumor growth by inhibiting Hippo signaling
            in hepatocellular carcinoma.
            Erratum:[J Exp Clin Cancer Res. 2021 Apr 12;40(1):128. PMID:
            33845876]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 827)
  AUTHORS   Yuruker B and Niggli V.
  TITLE     Alpha-actinin and vinculin in human neutrophils: reorganization
            during adhesion and relation to the actin network
  JOURNAL   J Cell Sci 101 (Pt 2), 403-414 (1992)
   PUBMED   1629252
REFERENCE   7  (residues 1 to 827)
  AUTHORS   Tokuue Y, Goto S, Imamura M, Obinata T, Masaki T and Endo T.
  TITLE     Transfection of chicken skeletal muscle alpha-actinin cDNA into
            nonmuscle and myogenic cells: dimerization is not essential for
            alpha-actinin to bind to microfilaments
  JOURNAL   Exp Cell Res 197 (2), 158-167 (1991)
   PUBMED   1720388
REFERENCE   8  (residues 1 to 827)
  AUTHORS   Nishiyama M, Ozturk M, Frohlich M, Mafune K, Steele G Jr and Wands
            JR.
  TITLE     Expression of human alpha-actinin in human hepatocellular carcinoma
  JOURNAL   Cancer Res 50 (19), 6291-6294 (1990)
   PUBMED   2169343
REFERENCE   9  (residues 1 to 827)
  AUTHORS   Youssoufian H, McAfee M and Kwiatkowski DJ.
  TITLE     Cloning and chromosomal localization of the human cytoskeletal
            alpha-actinin gene reveals linkage to the beta-spectrin gene
  JOURNAL   Am J Hum Genet 47 (1), 62-72 (1990)
   PUBMED   2349951
REFERENCE   10 (residues 1 to 827)
  AUTHORS   Millake DB, Blanchard AD, Patel B and Critchley DR.
  TITLE     The cDNA sequence of a human placental alpha-actinin
  JOURNAL   Nucleic Acids Res 17 (16), 6725 (1989)
   PUBMED   2780298
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL117694.5.
            On Aug 20, 2022 this sequence version replaced XP_047287793.1.
            
            Summary: Alpha actinins belong to the spectrin gene superfamily
            which represents a diverse group of cytoskeletal proteins,
            including the alpha and beta spectrins and dystrophins. Alpha
            actinin is an actin-binding protein with multiple roles in
            different cell types. In nonmuscle cells, the cytoskeletal isoform
            is found along microfilament bundles and adherens-type junctions,
            where it is involved in binding actin to the membrane. In contrast,
            skeletal, cardiac, and smooth muscle isoforms are localized to the
            Z-disc and analogous dense bodies, where they help anchor the
            myofibrillar actin filaments. This gene encodes a nonmuscle,
            cytoskeletal, alpha actinin isoform and maps to the same site as
            the structurally similar erythroid beta spectrin gene. Three
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3054882.1,
                                           SRR14038196.2095619.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..827
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.1"
     Protein         1..827
                     /product="alpha-actinin-1 isoform e"
                     /note="F-actin cross-linking protein; actinin 1 smooth
                     muscle; non-muscle alpha-actinin-1; epididymis secretory
                     sperm binding protein"
                     /calculated_mol_wt=95043
     Region          <1..67
                     /region_name="CH_SF"
                     /note="calponin homology (CH) domain superfamily; cl00030"
                     /db_xref="CDD:444660"
     Site            order(23,25..26,29..30,32,45..49,54,56..57,59..60,63..64,
                     67)
                     /site_type="other"
                     /note="actin binding site [polypeptide binding]"
                     /db_xref="CDD:409031"
     Region          71..185
                     /region_name="CH_ACTN_rpt2"
                     /note="second calponin homology (CH) domain found in the
                     alpha-actinin family; cd21216"
                     /db_xref="CDD:409065"
     Site            order(81,85,132..134,137..138,153..161,172,174..175,
                     178..179,181..182)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409065"
     Region          212..433
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            327..332
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          330..557
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            435..440
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          569..668
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Region          685..752
                     /region_name="EFh"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     cd00051"
                     /db_xref="CDD:238008"
     Site            order(694,696,698,705,735,737,739,746)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238008"
     Region          757..823
                     /region_name="EFhand_Ca_insen"
                     /note="Ca2+ insensitive EF hand; pfam08726"
                     /db_xref="CDD:430177"
     CDS             1..827
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /coded_by="NM_001411036.1:245..2728"
                     /note="isoform e is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS91890.1"
                     /db_xref="GeneID:87"
                     /db_xref="HGNC:HGNC:163"
                     /db_xref="MIM:102575"
ORIGIN      
        1 mlllevisge rlakpergkm rvhkisnvnk aldfiaskgv klvsigaeei vdgnvkmtlg
       61 miwtiilrfa iqdisveets akeglllwcq rktapyknvn iqnfhiswkd glgfcalihr
      121 hrpelidygk lrkddpltnl ntafdvaeky ldipkmldae divgtarpde kaimtyvssf
      181 yhafsgaqka etaanrickv lavnqeneql medyeklasd llewirrtip wlenrvpent
      241 mhamqqkled frdyrrlhkp pkvqekcqle infntlqtkl rlsnrpafmp segrmvsdin
      301 nawgcleqve kgyeewllne irrlerldhl aekfrqkasi heawtdgkea mlrqkdyeta
      361 tlseikallk kheafesdla ahqdrveqia aiaqelneld yydspsvnar cqkicdqwdn
      421 lgaltqkrre alerteklle tidqlyleya kraapfnnwm egamedlqdt fivhtieeiq
      481 glttaheqfk atlpdadker lailgihnev skivqtyhvn magtnpytti tpqeingkwd
      541 hvrqlvprrd qalteeharq qhnerlrkqf gaqanvigpw iqtkmeeigr isiemhgtle
      601 dqlshlrqye ksivnykpki dqlegdhqli qealifdnkh tnytmehirv gweqllttia
      661 rtinevenqi ltrdakgisq eqmnefrasf nhfdrdhsgt lgpeefkacl islgydignd
      721 pqgeaefari msivdpnrlg vvtfqafidf msretadtdt adqvmasfki lagdknyitm
      781 delrrelppd qaeyciarma pytgpdsvpg aldymsfsta lygesdl
//
LOCUS       NP_057318                739 aa            linear   PRI 22-JAN-2023
DEFINITION  long-chain-fatty-acid--CoA ligase 5 isoform a [Homo sapiens].
ACCESSION   NP_057318
VERSION     NP_057318.2
DBSOURCE    REFSEQ: accession NM_016234.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 739)
  AUTHORS   Zhang L, Liu X, Liu Y, Yan F, Zeng Y, Song Y, Fang H, Song D and
            Wang X.
  TITLE     Lysophosphatidylcholine inhibits lung cancer cell proliferation by
            regulating fatty acid metabolism enzyme long-chain acyl-coenzyme A
            synthase 5
  JOURNAL   Clin Transl Med 13 (1), e1180 (2023)
   PUBMED   36639836
  REMARK    GeneRIF: Lysophosphatidylcholine inhibits lung cancer cell
            proliferation by regulating fatty acid metabolism enzyme long-chain
            acyl-coenzyme A synthase 5.
REFERENCE   2  (residues 1 to 739)
  AUTHORS   de Luis D, Izaola O, Primo D and Pacheco D.
  TITLE     The gene variant rs2419621 of ACYL-CoA synthetase long-chain 5 gene
            is associated with weight loss and metabolic changes in response to
            a robotic sleeve gastrectomy in morbid obese subjects
  JOURNAL   Eur Rev Med Pharmacol Sci 25 (22), 7037-7043 (2021)
   PUBMED   34859867
  REMARK    GeneRIF: The gene variant rs2419621 of ACYL-CoA synthetase
            long-chain 5 gene is associated with weight loss and metabolic
            changes in response to a robotic sleeve gastrectomy in morbid obese
            subjects.
REFERENCE   3  (residues 1 to 739)
  AUTHORS   Al-Thihli K, Afting C, Al-Hashmi N, Mohammed M, Sliwinski S, Al
            Shibli N, Al-Said K, Al-Kasbi G, Al-Kharusi K, Merle U, Fullekrug J
            and Al-Maawali A.
  TITLE     Deficiency of acyl-CoA synthetase 5 is associated with a severe and
            treatable failure to thrive of neonatal onset
  JOURNAL   Clin Genet 99 (3), 376-383 (2021)
   PUBMED   33191500
  REMARK    GeneRIF: Deficiency of acyl-CoA synthetase 5 is associated with a
            severe and treatable failure to thrive of neonatal onset.
REFERENCE   4  (residues 1 to 739)
  AUTHORS   Nakamura R, Misawa K, Tohnai G, Nakatochi M, Furuhashi S, Atsuta N,
            Hayashi N, Yokoi D, Watanabe H, Watanabe H, Katsuno M, Izumi Y,
            Kanai K, Hattori N, Morita M, Taniguchi A, Kano O, Oda M, Shibuya
            K, Kuwabara S, Suzuki N, Aoki M, Ohta Y, Yamashita T, Abe K,
            Hashimoto R, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Okada Y,
            Ishihara T, Onodera O, Nakashima K, Kaji R, Kamatani Y, Ikegawa S,
            Momozawa Y, Kubo M, Ishida N, Minegishi N, Nagasaki M and Sobue G.
  TITLE     A multi-ethnic meta-analysis identifies novel genes, including
            ACSL5, associated with amyotrophic lateral sclerosis
  JOURNAL   Commun Biol 3 (1), 526 (2020)
   PUBMED   32968195
  REMARK    GeneRIF: A multi-ethnic meta-analysis identifies novel genes,
            including ACSL5, associated with amyotrophic lateral sclerosis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 739)
  AUTHORS   Izaola Jauregui O, Lopez Gomez JJ, Primo Martin D, Torres Torres B,
            Gomez Hoyos E, Ortola Buigues A, Delgado E and de Luis Roman DA.
  TITLE     ACYL-CoA synthetase long-chain 5 polymorphism is associated with
            weight loss and metabolic changes in response to a partial
            meal-replacement hypocaloric diet
  JOURNAL   Nutr Hosp 37 (4), 757-762 (2020)
   PUBMED   32686444
  REMARK    GeneRIF: ACYL-CoA synthetase long-chain 5 polymorphism is
            associated with weight loss and metabolic changes in response to a
            partial meal-replacement hypocaloric diet.', trans 'El polimorfismo
            de la ACYL-CoA-sintetasa de cadena larga 5 se asocia a perdida de
            peso y cambios metabolicos en respuesta a una dieta hipocalorica
            parcial de reemplazo.
REFERENCE   6  (residues 1 to 739)
  AUTHORS   Lewin TM, Van Horn CG, Krisans SK and Coleman RA.
  TITLE     Rat liver acyl-CoA synthetase 4 is a peripheral-membrane protein
            located in two distinct subcellular organelles, peroxisomes, and
            mitochondrial-associated membrane
  JOURNAL   Arch Biochem Biophys 404 (2), 263-270 (2002)
   PUBMED   12147264
REFERENCE   7  (residues 1 to 739)
  AUTHORS   Minekura H, Kang MJ, Inagaki Y, Suzuki H, Sato H, Fujino T and
            Yamamoto TT.
  TITLE     Genomic organization and transcription units of the human acyl-CoA
            synthetase 3 gene
  JOURNAL   Gene 278 (1-2), 185-192 (2001)
   PUBMED   11707336
REFERENCE   8  (residues 1 to 739)
  AUTHORS   Lewin TM, Kim JH, Granger DA, Vance JE and Coleman RA.
  TITLE     Acyl-CoA synthetase isoforms 1, 4, and 5 are present in different
            subcellular membranes in rat liver and can be inhibited
            independently
  JOURNAL   J Biol Chem 276 (27), 24674-24679 (2001)
   PUBMED   11319232
REFERENCE   9  (residues 1 to 739)
  AUTHORS   Yamashita Y, Kumabe T, Cho YY, Watanabe M, Kawagishi J, Yoshimoto
            T, Fujino T, Kang MJ and Yamamoto TT.
  TITLE     Fatty acid induced glioma cell growth is mediated by the acyl-CoA
            synthetase 5 gene located on chromosome 10q25.1-q25.2, a region
            frequently deleted in malignant gliomas
  JOURNAL   Oncogene 19 (51), 5919-5925 (2000)
   PUBMED   11127823
REFERENCE   10 (residues 1 to 739)
  AUTHORS   Lehner R and Kuksis A.
  TITLE     Biosynthesis of triacylglycerols
  JOURNAL   Prog Lipid Res 35 (2), 169-201 (1996)
   PUBMED   8944226
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL708480.1, AY358520.1 and
            AK024932.1.
            On Feb 25, 2004 this sequence version replaced NP_057318.1.
            
            Summary: The protein encoded by this gene is an isozyme of the
            long-chain fatty-acid-coenzyme A ligase family. Although differing
            in substrate specificity, subcellular localization, and tissue
            distribution, all isozymes of this family convert free long-chain
            fatty acids into fatty acyl-CoA esters, and thereby play a key role
            in lipid biosynthesis and fatty acid degradation. This isozyme is
            highly expressed in uterus and spleen, and in trace amounts in
            normal brain, but has markedly increased levels in malignant
            gliomas. This gene functions in mediating fatty acid-induced glioma
            cell growth. Three transcript variants encoding two different
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY358520.1, AK024932.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..739
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.2"
     Protein         1..739
                     /product="long-chain-fatty-acid--CoA ligase 5 isoform a"
                     /EC_number="6.2.1.3"
                     /EC_number="6.2.1.15"
                     /note="long-chain acyl-CoA synthetase 5;
                     fatty-acid-Coenzyme A ligase, long-chain 5; FACL5 for
                     fatty acid coenzyme A ligase 5; long-chain fatty acid
                     coenzyme A ligase 5; long-chain-fatty-acid--CoA ligase 5;
                     LACS 5; arachidonate--CoA ligase"
                     /calculated_mol_wt=82132
     Region          157..734
                     /region_name="LC-FACS_euk"
                     /note="Eukaryotic long-chain fatty acid CoA synthetase
                     (LC-FACS); cd05927"
                     /db_xref="CDD:341250"
     Site            order(314,317..322,324..325)
                     /site_type="other"
                     /note="acyl-activating enzyme (AAE) consensus motif"
                     /db_xref="CDD:341250"
     Site            order(317,434..435,497..502,581,593,596,608,714)
                     /site_type="other"
                     /note="putative AMP binding site [chemical binding]"
                     /db_xref="CDD:341250"
     Site            order(317,361..362,407,409..410,413,434..435,497..502,581,
                     593,596,605..608,691)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:341250"
     Site            order(361,409..410,413,434,605..607,689,691)
                     /site_type="other"
                     /note="putative CoA binding site [chemical binding]"
                     /db_xref="CDD:341250"
     CDS             1..739
                     /gene="ACSL5"
                     /gene_synonym="ACS2; ACS5; FACL5"
                     /coded_by="NM_016234.4:106..2325"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7572.1"
                     /db_xref="GeneID:51703"
                     /db_xref="HGNC:HGNC:16526"
                     /db_xref="MIM:605677"
ORIGIN      
        1 mdalkppclw rnhergkkdr dscgrknsep gsphslealr daapsqglnf lllftkmlfi
       61 fnflfsplpt paliciltfg aaiflwlitr pqpvlplldl nnqsvgiegg arkgvsqknn
      121 dltsccfsda ktmyevfqrg lavsdngpcl gyrkpnqpyr wlsykqvsdr aeylgscllh
      181 kgyksspdqf vgifaqnrpe wiiselacyt ysmvavplyd tlgpeaivhi vnkadiamvi
      241 cdtpqkalvl ignvekgftp slkviilmdp fdddlkqrge ksgieilsly daenlgkehf
      301 rkpvppsped lsvicftsgt tgdpkgamit hqnivsnaaa flkcvehaye ptpddvaisy
      361 lplahmferi vqavvyscga rvgffqgdir lladdmktlk ptlfpavprl lnriydkvqn
      421 eaktplkkfl lklavsskfk elqkgiirhd sfwdklifak iqdslggrvr vivtgaapms
      481 tsvmtffraa mgcqvyeayg qtectggctf tlpgdwtsgh vgvplacnyv kledvadmny
      541 ftvnnegevc ikgtnvfkgy lkdpektqea ldsdgwlhtg digrwlpngt lkiidrkkni
      601 fklaqgeyia pekieniynr sqpvlqifvh geslrsslvg vvvpdtdvlp sfaaklgvkg
      661 sfeelcqnqv vreailedlq kigkesglkt feqvkaiflh pepfsiengl ltptlkakrg
      721 elskyfrtqi dslyehiqd
//
LOCUS       NP_056007               1216 aa            linear   PRI 22-JAN-2023
DEFINITION  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1
            isoform a [Homo sapiens].
ACCESSION   NP_056007
VERSION     NP_056007.1
DBSOURCE    REFSEQ: accession NM_015192.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1216)
  AUTHORS   Wang SH, Cheng JY, Tsai HH, Lo TC, Hung JT, Lin CC, Lee CW, Ho YH,
            Kuo HH, Yu AL and Yu J.
  TITLE     Conformational alteration in glycan induces phospholipase Cbeta1
            activation and angiogenesis
  JOURNAL   J Biomed Sci 29 (1), 105 (2022)
   PUBMED   36517806
  REMARK    GeneRIF: Conformational alteration in glycan induces phospholipase
            Cbeta1 activation and angiogenesis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1216)
  AUTHORS   Park J, Kim SH, Kim YJ, Kim H, Oh Y, Choi KY, Kim BC, Lee KH and
            Song WK.
  TITLE     Elevation of phospholipase C-beta1 expression by amyloid-beta
            facilitates calcium overload in neuronal cells
  JOURNAL   Brain Res 1788, 147924 (2022)
   PUBMED   35469845
  REMARK    GeneRIF: Elevation of phospholipase C-beta1 expression by
            amyloid-beta facilitates calcium overload in neuronal cells.
REFERENCE   3  (residues 1 to 1216)
  AUTHORS   Bao Y, Guo H, Yang B, Chen F, Zhang Z and Gao J.
  TITLE     MicroRNA-1297 participates in the repair of intestinal barrier
            injury in patients with HIV/AIDS via negative regulation of
            PLCbeta1
  JOURNAL   Mol Cell Biochem 477 (8), 2133-2147 (2022)
   PUBMED   35608718
  REMARK    GeneRIF: MicroRNA-1297 participates in the repair of intestinal
            barrier injury in patients with HIV/AIDS via negative regulation of
            PLCbeta1.
REFERENCE   4  (residues 1 to 1216)
  AUTHORS   Ratti S, Marvi MV, Mongiorgi S, Obeng EO, Rusciano I, Ramazzotti G,
            Morandi L, Asioli S, Zoli M, Mazzatenta D, Suh PG, Manzoli L and
            Cocco L.
  TITLE     Impact of phospholipase C beta1 in glioblastoma: a study on the
            main mechanisms of tumor aggressiveness
  JOURNAL   Cell Mol Life Sci 79 (4), 195 (2022)
   PUBMED   35303162
  REMARK    GeneRIF: Impact of phospholipase C beta1 in glioblastoma: a study
            on the main mechanisms of tumor aggressiveness.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1216)
  AUTHORS   Liang S, Guo H, Ma K, Li X, Wu D, Wang Y, Wang W, Zhang S, Cui Y,
            Liu Y, Sun L, Zhang B, Xin M, Zhang N, Zhou H, Liu Y, Wang J and
            Liu L.
  TITLE     A PLCB1-PI3K-AKT Signaling Axis Activates EMT to Promote
            Cholangiocarcinoma Progression
  JOURNAL   Cancer Res 81 (23), 5889-5903 (2021)
   PUBMED   34580062
  REMARK    GeneRIF: A PLCB1-PI3K-AKT Signaling Axis Activates EMT to Promote
            Cholangiocarcinoma Progression.
REFERENCE   6  (residues 1 to 1216)
  AUTHORS   Hwang SC, Park KH, Ha MJ, Noh IS, Park TB and Lee YH.
  TITLE     Distribution of phospholipase C isozymes in normal human lung
            tissue and their immunohistochemical localization
  JOURNAL   J Korean Med Sci 11 (4), 305-313 (1996)
   PUBMED   8878798
REFERENCE   7  (residues 1 to 1216)
  AUTHORS   Zini N, Sabatelli P, Faenza I, Ognibene A and Maraldi NM.
  TITLE     Interleukin-1 alpha induces variations of the intranuclear amount
            of phosphatidylinositol 4,5-bisphosphate and phospholipase C beta 1
            in human osteosarcoma Saos-2 cells
  JOURNAL   Histochem J 28 (7), 495-504 (1996)
   PUBMED   8872139
REFERENCE   8  (residues 1 to 1216)
  AUTHORS   Zauli G, Previati M, Caramelli E, Bassini A, Falcieri E, Gibellini
            D, Bertolaso L, Bosco D, Robuffo I and Capitani S.
  TITLE     Exogenous human immunodeficiency virus type-1 Tat protein
            selectively stimulates a phosphatidylinositol-specific
            phospholipase C nuclear pathway in the Jurkat T cell line
  JOURNAL   Eur J Immunol 25 (9), 2695-2700 (1995)
   PUBMED   7589147
REFERENCE   9  (residues 1 to 1216)
  AUTHORS   Berstein G, Blank JL, Jhon DY, Exton JH, Rhee SG and Ross EM.
  TITLE     Phospholipase C-beta 1 is a GTPase-activating protein for Gq/11,
            its physiologic regulator
  JOURNAL   Cell 70 (3), 411-418 (1992)
   PUBMED   1322796
REFERENCE   10 (residues 1 to 1216)
  AUTHORS   Banno Y, Yada Y and Nozawa Y.
  TITLE     Purification and characterization of membrane-bound phospholipase C
            specific for phosphoinositides from human platelets
  JOURNAL   J Biol Chem 263 (23), 11459-11465 (1988)
   PUBMED   2841328
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB011153.3, AY004175.1,
            AL049593.10 and BQ184058.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene catalyzes the formation
            of inositol 1,4,5-trisphosphate and diacylglycerol from
            phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium
            as a cofactor and plays an important role in the intracellular
            transduction of many extracellular signals. This gene is activated
            by two G-protein alpha subunits, alpha-q and alpha-11. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB011153.3, SRR1660807.77968.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338037.11/ ENSP00000338185.6
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1216
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.3"
     Protein         1..1216
                     /product="1-phosphatidylinositol 4,5-bisphosphate
                     phosphodiesterase beta-1 isoform a"
                     /EC_number="3.1.4.11"
                     /note="triphosphoinositide phosphodiesterase;
                     phosphoinositidase C; monophosphatidylinositol
                     phosphodiesterase;
                     1-phosphatidyl-D-myo-inositol-4,5-bisphosphate;
                     inositoltrisphosphohydrolase; phospholipase C-I;
                     1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase
                     beta-1; phospholipase C, beta 1
                     (phosphoinositide-specific); phosphoinositide
                     phospholipase C"
                     /calculated_mol_wt=138436
     Region          22..148
                     /region_name="PH_PLC_beta"
                     /note="Phospholipase C-beta (PLC-beta) pleckstrin homology
                     (PH) domain; cd13361"
                     /db_xref="CDD:270167"
     Site            order(27,29,40,57,122)
                     /site_type="other"
                     /note="Rac1 binding site [polypeptide binding]"
                     /db_xref="CDD:270167"
     Site            order(30,32,37,39,41,56..57)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270167"
     Region          153..303
                     /region_name="EFh_PI-PLCbeta1"
                     /note="EF-hand motif found in phosphoinositide
                     phospholipase C beta 1 (PI-PLC-beta1); cd16208"
                     /db_xref="CDD:320038"
     Region          153..182
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320038"
     Region          186..215
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320038"
     Region          224..253
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320038"
     Site            236
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z1B3; propagated from
                     UniProtKB/Swiss-Prot (Q9NQ66.1)"
     Region          270..303
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320038"
     Region          316..643
                     /region_name="PI-PLCc_beta"
                     /note="Catalytic domain of metazoan
                     phosphoinositide-specific phospholipase C-beta; cd08591"
                     /db_xref="CDD:176533"
     Site            order(331..332,361,363,378,412,479,481,569,596,598)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:176533"
     Site            order(331,378)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:176533"
     Site            order(332,361,363,412)
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:176533"
     Site            417
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z1B3; propagated from
                     UniProtKB/Swiss-Prot (Q9NQ66.1)"
     Region          469..534
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ66.1)"
     Site            509
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z1B3; propagated from
                     UniProtKB/Swiss-Prot (Q9NQ66.1)"
     Site            511
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z1B3; propagated from
                     UniProtKB/Swiss-Prot (Q9NQ66.1)"
     Site            582
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z1B3; propagated from
                     UniProtKB/Swiss-Prot (Q9NQ66.1)"
     Region          677..796
                     /region_name="C2_PLC_like"
                     /note="C2 domain present in Phosphoinositide-specific
                     phospholipases C (PLC); cd00275"
                     /db_xref="CDD:175974"
     Site            order(694,720,751,753,755,757)
                     /site_type="other"
                     /note="Ca2+ binding pocket [ion binding]"
                     /db_xref="CDD:175974"
     Region          834..891
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ66.1)"
     Site            887
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000250|UniProtKB:P10894; propagated from
                     UniProtKB/Swiss-Prot (Q9NQ66.1)"
     Region          903..939
                     /region_name="DUF1154"
                     /note="Protein of unknown function (DUF1154); pfam06631"
                     /db_xref="CDD:429045"
     Region          963..994
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ66.1)"
     Site            978
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z1B3; propagated from
                     UniProtKB/Swiss-Prot (Q9NQ66.1)"
     Site            987
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z1B3; propagated from
                     UniProtKB/Swiss-Prot (Q9NQ66.1)"
     Region          1003..1170
                     /region_name="PLC-beta_C"
                     /note="PLC-beta C terminal; pfam08703"
                     /db_xref="CDD:430164"
     Region          1071..1095
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ66.1)"
     Region          1173..1216
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQ66.1)"
     Site            1199
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z1B3; propagated from
                     UniProtKB/Swiss-Prot (Q9NQ66.1)"
     Site            1200
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z1B3; propagated from
                     UniProtKB/Swiss-Prot (Q9NQ66.1)"
     CDS             1..1216
                     /gene="PLCB1"
                     /gene_synonym="DEE12; EIEE12; PI-PLC; PLC-154; PLC-beta-1;
                     PLC-I; PLC154; PLCB1A; PLCB1B"
                     /coded_by="NM_015192.4:387..4037"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13102.1"
                     /db_xref="GeneID:23236"
                     /db_xref="HGNC:HGNC:15917"
                     /db_xref="MIM:607120"
ORIGIN      
        1 magaqpgvha lqlkpvcvsd slkkgtkfvk wdddstivtp iilrtdpqgf ffywtdqnke
       61 telldlslvk darcgrhaka pkdpklrell dvgnigrleq rmitvvygpd lvnishlnlv
      121 afqeevakew tnevfslatn llaqnmsrda flekaytklk lqvtpegrip lkniyrlfsa
      181 drkrvetale acslpssrnd sipqedftpe vyrvflnnlc prpeidnifs efgakskpyl
      241 tvdqmmdfin lkqrdprlne ilypplkqeq vqvliekyep nnslarkgqi svdgfmryls
      301 geengvvspe kldlnedmsq plshyfinss hntyltagql agnssvemyr qvllsgcrcv
      361 eldcwkgrta eeepvithgf tmtteisfke vieaiaecaf ktspfpills fenhvdspkq
      421 qakmaeycrl ifgdallmep lekyplesgv plpspmdlmy kilvknkkks hkssegsgkk
      481 klseqasnty sdsssmfeps spgageadte sddddddddc kkssmdegta gseamateem
      541 snlvnyiqpv kfesfeiskk rnksfemssf vetkgleqlt kspvefveyn kmqlsriypk
      601 gtrvdssnym pqlfwnagcq mvalnfqtmd lamqinmgmy eyngksgyrl kpefmrrpdk
      661 hfdpftegiv dgivantlsv kiisgqflsd kkvgtyvevd mfglpvdtrr kafktktsqg
      721 navnpvweee pivfkkvvlp tlaclriavy eeggkfighr ilpvqairpg yhyiclrner
      781 nqpltlpavf vyievkdyvp dtyadvieal snpiryvnlm eqrakqlaal tledeeevkk
      841 eadpgetpse apsearttpa engvnhtttl tpkppsqalh sqpapgsvka paktedliqs
      901 vlteveaqti eelkqqksfv klqkkhykem kdlvkrhhkk ttdlikehtt kyneiqndyl
      961 rrraaleksa kkdskkksep sspdhgssti eqdlaaldae mtqklidlkd kqqqqllnlr
     1021 qeqyysekyq krehiklliq kltdvaeecq nnqlkklkei cekekkelkk kmdkkrqeki
     1081 teakskdksq meeektemir syiqevvqyi krleeaqskr qeklvekhke irqqildekp
     1141 klqveleqey qdkfkrlple ilefvqeamk gkisedsnhg saplslssdp gkvnhktpss
     1201 eelggdipgk efdtpl
//
LOCUS       NP_001257568             188 aa            linear   PRI 07-FEB-2023
DEFINITION  josephin-2 isoform 1 [Homo sapiens].
ACCESSION   NP_001257568
VERSION     NP_001257568.1
DBSOURCE    REFSEQ: accession NM_001270639.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 188)
  AUTHORS   Wang Y, Li ZX, Wang JG, Li LH, Shen WL and Dang XW.
  TITLE     Deubiquitinating enzyme Josephin-2 stabilizes PHGDH to promote a
            cancer stem cell phenotype in hepatocellular carcinoma
  JOURNAL   Genes Genomics 45 (2), 215-224 (2023)
   PUBMED   36583817
  REMARK    GeneRIF: Deubiquitinating enzyme Josephin-2 stabilizes PHGDH to
            promote a cancer stem cell phenotype in hepatocellular carcinoma.
REFERENCE   2  (residues 1 to 188)
  AUTHORS   Huang Y, Zeng J, Liu T, Xu Q, Song X and Zeng J.
  TITLE     Deubiquitinating enzyme JOSD2 promotes hepatocellular carcinoma
            progression through interacting with and inhibiting CTNNB1
            degradation
  JOURNAL   Cell Biol Int 46 (7), 1089-1097 (2022)
   PUBMED   35568970
  REMARK    GeneRIF: Deubiquitinating enzyme JOSD2 promotes hepatocellular
            carcinoma progression through interacting with and inhibiting
            CTNNB1 degradation.
REFERENCE   3  (residues 1 to 188)
  AUTHORS   Krassikova L, Zhang B, Nagarajan D, Queiroz AL, Kacal M, Samakidis
            E, Vakifahmetoglu-Norberg H and Norberg E.
  TITLE     The deubiquitinase JOSD2 is a positive regulator of glucose
            metabolism
  JOURNAL   Cell Death Differ 28 (3), 1091-1109 (2021)
   PUBMED   33082514
  REMARK    GeneRIF: The deubiquitinase JOSD2 is a positive regulator of
            glucose metabolism.
REFERENCE   4  (residues 1 to 188)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 188)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (residues 1 to 188)
  AUTHORS   Weeks SD, Grasty KC, Hernandez-Cuebas L and Loll PJ.
  TITLE     Crystal structure of a Josephin-ubiquitin complex: evolutionary
            restraints on ataxin-3 deubiquitinating activity
  JOURNAL   J Biol Chem 286 (6), 4555-4565 (2011)
   PUBMED   21118805
REFERENCE   7  (residues 1 to 188)
  AUTHORS   Tzvetkov N and Breuer P.
  TITLE     Josephin domain-containing proteins from a variety of species are
            active de-ubiquitination enzymes
  JOURNAL   Biol Chem 388 (9), 973-978 (2007)
   PUBMED   17696782
REFERENCE   8  (residues 1 to 188)
  AUTHORS   Baek KH.
  TITLE     Cytokine-regulated protein degradation by the ubiquitination system
  JOURNAL   Curr Protein Pept Sci 7 (2), 171-177 (2006)
   PUBMED   16611142
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY056543.1 and BC062416.1.
            
            Summary: This gene encodes a protein containing a Josephin domain.
            Josephin domain-containing proteins are deubiquitinating enzymes
            which catalyze the hydrolysis of the bond between the C-terminal
            glycine of the ubiquitin peptide and protein substrates.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Jul
            2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1, 2, 4 and
            5 encode the same isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC062416.1, BG774911.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267761, SAMN03267763
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000598418.6/ ENSP00000468956.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..188
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..188
                     /product="josephin-2 isoform 1"
                     /EC_number="3.4.19.12"
                     /note="josephin-2; josephin domain-containing protein 2"
                     /calculated_mol_wt=20625
     Region          19..166
                     /region_name="Josephin"
                     /note="pfam02099"
                     /db_xref="CDD:426599"
     CDS             1..188
                     /gene="JOSD2"
                     /gene_synonym="SBBI54"
                     /coded_by="NM_001270639.2:93..659"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS12797.1"
                     /db_xref="GeneID:126119"
                     /db_xref="HGNC:HGNC:28853"
                     /db_xref="MIM:615324"
ORIGIN      
        1 msqapgaqps pptvyherqr lelcavhaln nvlqqqlfsq eaadeickrl apdsrlnphr
       61 sllgtgnydv nvimaalqgl glaavwwdrr rplsqlalpq vlglilnlps pvslgllslp
      121 lrrrhwvalr qvdgvyynld sklrapealg dedgvrafla aalaqglcev llvvtkevee
      181 kgswlrtd
//
LOCUS       NP_001265206             206 aa            linear   PRI 19-FEB-2023
DEFINITION  transcription factor E2F6 isoform 3 [Homo sapiens].
ACCESSION   NP_001265206
VERSION     NP_001265206.1
DBSOURCE    REFSEQ: accession NM_001278277.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 206)
  AUTHORS   Shirahama Y and Yamamoto K.
  TITLE     The E2F6 Transcription Factor is Associated with the Mammalian
            SUZ12-Containing Polycomb Complex
  JOURNAL   Kurume Med J 67 (4), 171-183 (2023)
   PUBMED   36464274
  REMARK    GeneRIF: The E2F6 Transcription Factor is Associated with the
            Mammalian SUZ12-Containing Polycomb Complex.
REFERENCE   2  (residues 1 to 206)
  AUTHORS   Liu Y, Yao Y, Liao B, Zhang H, Yang Z, Xia P, Jiang X, Ma W, Wu X,
            Mei C, Wang G, Gao M, Xu K, GongYe X, Cheng Z, Jiang P, Chen X and
            Yuan Y.
  TITLE     A positive feedback loop of CENPU/E2F6/E2F1 facilitates
            proliferation and metastasis via ubiquitination of E2F6 in
            hepatocellular carcinoma
  JOURNAL   Int J Biol Sci 18 (10), 4071-4087 (2022)
   PUBMED   35844791
  REMARK    GeneRIF: A positive feedback loop of CENPU/E2F6/E2F1 facilitates
            proliferation and metastasis via ubiquitination of E2F6 in
            hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 206)
  AUTHORS   Chen G, Wang K, Li G, Wang L, Xiao Y and Chen B.
  TITLE     Long Noncoding RNA LAMTOR5-AS1 Interference Affects
            MicroRNA-506-3p/E2F6-Mediated Behavior of Non-Small Cell Lung
            Cancer Cells
  JOURNAL   Oncol Res 28 (9), 945-959 (2022)
   PUBMED   34588094
  REMARK    GeneRIF: Long Noncoding RNA LAMTOR5-AS1 Interference Affects
            MicroRNA-506-3p/E2F6-Mediated Behavior of Non-Small Cell Lung
            Cancer Cells.
REFERENCE   4  (residues 1 to 206)
  AUTHORS   Kherrouche Z, De Launoit Y and Monte D.
  TITLE     Human E2F6 is alternatively spliced to generate multiple protein
            isoforms
  JOURNAL   Biochem Biophys Res Commun 317 (3), 749-760 (2004)
   PUBMED   15081404
  REMARK    GeneRIF: contains nine exons distributed along 20.4kbp of genomic
            DNA on chromosome 2 leading to the transcription of six
            alternatively spliced E2F6 mRNAs that encode four different E2F6
            proteins
REFERENCE   5  (residues 1 to 206)
  AUTHORS   Oberley MJ, Inman DR and Farnham PJ.
  TITLE     E2F6 negatively regulates BRCA1 in human cancer cells without
            methylation of histone H3 on lysine 9
  JOURNAL   J Biol Chem 278 (43), 42466-42476 (2003)
   PUBMED   12909625
  REMARK    GeneRIF: results suggest that E2F6 represses transcription of the
            brca1, ctip, art27, hp1alpha, and the rbap48 genes and depletion of
            E2F6 resulted in the recruitment of E2F1 to the target promoters
REFERENCE   6  (residues 1 to 206)
  AUTHORS   Ogawa H, Ishiguro K, Gaubatz S, Livingston DM and Nakatani Y.
  TITLE     A complex with chromatin modifiers that occupies E2F- and
            Myc-responsive genes in G0 cells
  JOURNAL   Science 296 (5570), 1132-1136 (2002)
   PUBMED   12004135
  REMARK    GeneRIF: data suggest that E2F- and Myc-responsive genes are
            coregulated by E2F6 complex in quiescent cells
REFERENCE   7  (residues 1 to 206)
  AUTHORS   Trimarchi JM, Fairchild B, Wen J and Lees JA.
  TITLE     The E2F6 transcription factor is a component of the mammalian
            Bmi1-containing polycomb complex
  JOURNAL   Proc Natl Acad Sci U S A 98 (4), 1519-1524 (2001)
   PUBMED   11171983
REFERENCE   8  (residues 1 to 206)
  AUTHORS   Cartwright P, Muller H, Wagener C, Holm K and Helin K.
  TITLE     E2F-6: a novel member of the E2F family is an inhibitor of
            E2F-dependent transcription
  JOURNAL   Oncogene 17 (5), 611-623 (1998)
   PUBMED   9704927
REFERENCE   9  (residues 1 to 206)
  AUTHORS   Gaubatz S, Wood JG and Livingston DM.
  TITLE     Unusual proliferation arrest and transcriptional control properties
            of a newly discovered E2F family member, E2F-6
  JOURNAL   Proc Natl Acad Sci U S A 95 (16), 9190-9195 (1998)
   PUBMED   9689056
REFERENCE   10 (residues 1 to 206)
  AUTHORS   Trimarchi JM, Fairchild B, Verona R, Moberg K, Andon N and Lees JA.
  TITLE     E2F-6, a member of the E2F family that can behave as a
            transcriptional repressor
  JOURNAL   Proc Natl Acad Sci U S A 95 (6), 2850-2855 (1998)
   PUBMED   9501179
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU142999.1, AK096197.1,
            BC008348.1 and AC099344.4.
            
            Summary: This gene encodes a member of a family of transcription
            factors that play a crucial role in the control of the cell cycle.
            The protein encoded by this gene lacks the transactivation and
            tumor suppressor protein association domains found in other family
            members, and contains a modular suppression domain that functions
            in the inhibition of transcription. It interacts in a complex with
            chromatin modifying factors. There are pseudogenes for this gene on
            chromosomes 22 and X. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, May 2013].
            
            Transcript Variant: This variant (d) contains two alternate exons
            and initiates translation at a downstream in-frame start codon,
            compared to variant a. The encoded isoform (3) has a shorter
            N-terminus, compared to isoform 1. Variants c, d, and e encode the
            same isoform (3).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK096197.1, AY551349.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..206
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.1"
     Protein         1..206
                     /product="transcription factor E2F6 isoform 3"
                     /note="transcription factor E2F6"
                     /calculated_mol_wt=22850
     Region          1..53
                     /region_name="E2F_TDP"
                     /note="E2F/DP family winged-helix DNA-binding domain;
                     pfam02319"
                     /db_xref="CDD:426717"
     Region          64..164
                     /region_name="E2F_DD"
                     /note="Dimerization domain of E2F transcription factors;
                     cd14660"
                     /db_xref="CDD:271137"
     Site            order(64..65,68..69,71..72,75..76,78..79,82..83,85..86,
                     88..90,92..93,96,104..109,112..113,116,120..128,144..151,
                     153..156,158,164)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:271137"
     Region          64..98
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:271137"
     Site            order(130..139,141..142,145)
                     /site_type="other"
                     /note="RbC binding site [polypeptide binding]"
                     /db_xref="CDD:271137"
     CDS             1..206
                     /gene="E2F6"
                     /gene_synonym="E2F-6"
                     /coded_by="NM_001278277.2:712..1332"
                     /note="isoform 3 is encoded by transcript variant d"
                     /db_xref="CCDS:CCDS62858.1"
                     /db_xref="GeneID:1876"
                     /db_xref="HGNC:HGNC:3120"
                     /db_xref="MIM:602944"
ORIGIN      
        1 mdlvrsapgg ildlnkvatk lgvrkrrvyd itnvldgidl vekksknhir wigsdlsnfg
       61 avpqqkklqe elsdlsamed aldelikdca qqlfeltddk enerlayvty qdihsiqafh
      121 eqiviavkap aetrldvpap redsitvhir stngpidvyl ceveqgqtsn krsegvgtss
      181 sesthpegpe eeenpqqsee llevsn
//
LOCUS       NP_694953               1156 aa            linear   PRI 07-MAR-2023
DEFINITION  cartilage intermediate layer protein 2 precursor [Homo sapiens].
ACCESSION   NP_694953
VERSION     NP_694953.2
DBSOURCE    REFSEQ: accession NM_153221.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1156)
  AUTHORS   Torga T, Suutre S, Kisand K, Aunapuu M and Arend A.
  TITLE     Expression of CILP-2 and DDR2 and ultrastructural changes in the
            articular cartilage of patients with knee osteoarthritis undergoing
            total knee arthroplasty: a pilot morphological study
  JOURNAL   Med Mol Morphol 56 (1), 46-57 (2023)
   PUBMED   36370214
  REMARK    GeneRIF: Expression of CILP-2 and DDR2 and ultrastructural changes
            in the articular cartilage of patients with knee osteoarthritis
            undergoing total knee arthroplasty: a pilot morphological study.
REFERENCE   2  (residues 1 to 1156)
  AUTHORS   Hu W, Li K, Han H, Geng S, Zhou B, Fan X, Xu S, Yang M, Liu H, Yang
            G and Liu Y.
  TITLE     Circulating Levels of CILP2 Are Elevated in Coronary Heart Disease
            and Associated with Atherosclerosis
  JOURNAL   Oxid Med Cell Longev 2020, 1871984 (2020)
   PUBMED   33204392
  REMARK    GeneRIF: Circulating Levels of CILP2 Are Elevated in Coronary Heart
            Disease and Associated with Atherosclerosis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1156)
  AUTHORS   Boonvisut S, Nakayama K, Makishima S, Watanabe K, Miyashita H,
            Lkhagvasuren M, Kagawa Y and Iwamoto S.
  TITLE     Replication analysis of genetic association of the NCAN-CILP2
            region with plasma lipid levels and non-alcoholic fatty liver
            disease in Asian and Pacific ethnic groups
  JOURNAL   Lipids Health Dis 15, 8 (2016)
   PUBMED   26758378
  REMARK    GeneRIF: This study aims to analyze the influences of
            single-nucleotide polymorphism in the NCAN-CILP2 region on
            non-alcoholic fatty liver disease and plasma lipid levels in the
            Asian and Pacific ethnic groups.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1156)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   5  (residues 1 to 1156)
  AUTHORS   Luptakova L, Bencova D, Sivakova D and Cvicelova M.
  TITLE     Association of CILP2 and ACE gene polymorphisms with cardiovascular
            risk factors in Slovak midlife women
  JOURNAL   Biomed Res Int 2013, 634207 (2013)
   PUBMED   24350279
  REMARK    GeneRIF: The minor T allele of CILP2 gene and I allele of ACE gene
            have a protective effect.
REFERENCE   6  (residues 1 to 1156)
  AUTHORS   Tai ES, Sim XL, Ong TH, Wong TY, Saw SM, Aung T, Kathiresan S,
            Orho-Melander M, Ordovas JM, Tan JT and Seielstad M.
  TITLE     Polymorphisms at newly identified lipid-associated loci are
            associated with blood lipids and cardiovascular disease in an Asian
            Malay population
  JOURNAL   J Lipid Res 50 (3), 514-520 (2009)
   PUBMED   18987386
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 1156)
  AUTHORS   Kathiresan S, Willer CJ, Peloso GM, Demissie S, Musunuru K, Schadt
            EE, Kaplan L, Bennett D, Li Y, Tanaka T, Voight BF, Bonnycastle LL,
            Jackson AU, Crawford G, Surti A, Guiducci C, Burtt NP, Parish S,
            Clarke R, Zelenika D, Kubalanza KA, Morken MA, Scott LJ, Stringham
            HM, Galan P, Swift AJ, Kuusisto J, Bergman RN, Sundvall J, Laakso
            M, Ferrucci L, Scheet P, Sanna S, Uda M, Yang Q, Lunetta KL, Dupuis
            J, de Bakker PI, O'Donnell CJ, Chambers JC, Kooner JS, Hercberg S,
            Meneton P, Lakatta EG, Scuteri A, Schlessinger D, Tuomilehto J,
            Collins FS, Groop L, Altshuler D, Collins R, Lathrop GM, Melander
            O, Salomaa V, Peltonen L, Orho-Melander M, Ordovas JM, Boehnke M,
            Abecasis GR, Mohlke KL and Cupples LA.
  TITLE     Common variants at 30 loci contribute to polygenic dyslipidemia
  JOURNAL   Nat Genet 41 (1), 56-65 (2009)
   PUBMED   19060906
REFERENCE   8  (residues 1 to 1156)
  AUTHORS   Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, Rieder MJ,
            Cooper GM, Roos C, Voight BF, Havulinna AS, Wahlstrand B, Hedner T,
            Corella D, Tai ES, Ordovas JM, Berglund G, Vartiainen E, Jousilahti
            P, Hedblad B, Taskinen MR, Newton-Cheh C, Salomaa V, Peltonen L,
            Groop L, Altshuler DM and Orho-Melander M.
  TITLE     Six new loci associated with blood low-density lipoprotein
            cholesterol, high-density lipoprotein cholesterol or triglycerides
            in humans
  JOURNAL   Nat Genet 40 (2), 189-197 (2008)
   PUBMED   18193044
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Erratum:[Nat Genet. 2008 Nov;40(11):1384]
REFERENCE   9  (residues 1 to 1156)
  AUTHORS   Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, Clarke
            R, Heath SC, Timpson NJ, Najjar SS, Stringham HM, Strait J, Duren
            WL, Maschio A, Busonero F, Mulas A, Albai G, Swift AJ, Morken MA,
            Narisu N, Bennett D, Parish S, Shen H, Galan P, Meneton P, Hercberg
            S, Zelenika D, Chen WM, Li Y, Scott LJ, Scheet PA, Sundvall J,
            Watanabe RM, Nagaraja R, Ebrahim S, Lawlor DA, Ben-Shlomo Y,
            Davey-Smith G, Shuldiner AR, Collins R, Bergman RN, Uda M,
            Tuomilehto J, Cao A, Collins FS, Lakatta E, Lathrop GM, Boehnke M,
            Schlessinger D, Mohlke KL and Abecasis GR.
  TITLE     Newly identified loci that influence lipid concentrations and risk
            of coronary artery disease
  JOURNAL   Nat Genet 40 (2), 161-169 (2008)
   PUBMED   18193043
REFERENCE   10 (residues 1 to 1156)
  AUTHORS   Johnson K, Farley D, Hu SI and Terkeltaub R.
  TITLE     One of two chondrocyte-expressed isoforms of cartilage
            intermediate-layer protein functions as an insulin-like growth
            factor 1 antagonist
  JOURNAL   Arthritis Rheum 48 (5), 1302-1314 (2003)
   PUBMED   12746903
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA328640.1, AF542080.1 and BC018939.2.
            On Apr 25, 2007 this sequence version replaced NP_694953.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC068256.1, AF542080.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467143, SAMEA2467144
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291495.5/ ENSP00000291495.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1156
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     Protein         1..1156
                     /product="cartilage intermediate layer protein 2
                     precursor"
                     /note="cartilage intermediate layer protein-like protein
                     2; CILP-2"
                     /calculated_mol_wt=124344
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1967
     Region          59..143
                     /region_name="Mucin2_WxxW"
                     /note="Mucin-2 protein WxxW repeating region; pfam13330"
                     /db_xref="CDD:433121"
     Region          149..197
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          213..286
                     /region_name="CarboxypepD_reg"
                     /note="Carboxypeptidase regulatory-like domain; pfam13620"
                     /db_xref="CDD:433354"
     Site            276
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8IUL8.2)"
     Region          291..363
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Site            308
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8IUL8.2)"
     Region          309..313
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          322..327
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            329
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8IUL8.2)"
     Region          356..361
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          369..373
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          <412..466
                     /region_name="GHB_like"
                     /note="Glycoprotein hormone beta chain homologues;
                     cl21545"
                     /db_xref="CDD:451304"
     Region          1134..1156
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUL8.2)"
     CDS             1..1156
                     /gene="CILP2"
                     /gene_synonym="CLIP-2"
                     /coded_by="NM_153221.2:86..3556"
                     /db_xref="CCDS:CCDS12405.1"
                     /db_xref="GeneID:148113"
                     /db_xref="HGNC:HGNC:24213"
                     /db_xref="MIM:612419"
ORIGIN      
        1 masllpllcl cvvaahlaga rdatpteepm atalglerrs vytgqpspal edweeasewt
       61 swfnvdhpgg dgdfeslaai rfyygparvc prplaleart tdwalpsavg ervhlnptrg
      121 fwclnreqpr grrcsnyhvr frcpleaswg awgpwgpcsg scgpgrrlrr rhcpspagda
      181 cpgrpleaqk cvrprcpgcs ldtcecpdhi llgsvvtpsg qpllgarvsl rdqpgtvats
      241 dahgtfrvpg vcadsranir aqmdgfsage aqaqangsis vvtiildkle kpylvkhpes
      301 rvreagqnvt fcckasgtpm pkkyswfhng tlldrrahgy gahlelrglr pdqagiyhck
      361 awneagavrs gtarltvlap gqpacdprpr eyliklpedc gqpgsgpayl dvglcpdtrc
      421 pslagssprc gdassrccsv rrlerreihc pgyvlpvkvv aecgcqkclp prglvrgrvv
      481 aadsgeplrf arillgqepi gftayqgdft ievppstqrl vvtfvdpsge fmdavrvlpf
      541 dprgagvyhe vkamrkkapv ilhtsqsnti plgeledeap lgelvlpsga frradgkpys
      601 gpvearvtfv dprdltsaas apsdlrfvds dgelaplrty gmfsvdlrap gsaeqlqvgp
      661 vavrvaasqi hmpghvealk lwslnpetgl weeesgfrre gssgprvrre ervflvgnve
      721 irerrlfnld vperrrcfvk vrayandkft pseqvegvvv tlvnlepapg fsanprawgr
      781 fdsavtgpng aclpafcdad rpdaytalvt atlggeelep apslprplpa tvgvtqpyld
      841 rlgyrrtdhd dpafkrngfr inlakprpgd paeangpvyp wrslrecqga pvtashfrfa
      901 rveadkyeyn vvpfregtpa swtgdllaww pnpqefracf lkvkiqgpqe ymvrshnagg
      961 shprtrgqly glrdarsvrd perpgtsaac vefkcsgmlf dqrqvdrtlv timpqgscrr
     1021 vavngllrdy ltrhpppvpa edpaafsmla pldplghnyg vytvtdqspr lakeiaigrc
     1081 fdgssdgfsr emkadagtav tfqcreppag rpslfqrlle spatalgdir remseaaqaq
     1141 arasgplrtr rgrvrq
//
LOCUS       NP_443183                329 aa            linear   PRI 12-MAR-2023
DEFINITION  deoxynucleotidyltransferase terminal-interacting protein 1 [Homo
            sapiens].
ACCESSION   NP_443183
VERSION     NP_443183.1
DBSOURCE    REFSEQ: accession NM_052951.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 329)
  AUTHORS   Ding S, Gao Y, Lv D, Tao Y, Liu S, Chen C, Huang Z, Zheng S, Hu Y,
            Chow LK, Wei Y, Feng P, Dai W, Wang X and Xia Y.
  TITLE     DNTTIP1 promotes nasopharyngeal carcinoma metastasis via recruiting
            HDAC1 to DUSP2 promoter and activating ERK signaling pathway
  JOURNAL   EBioMedicine 81, 104100 (2022)
   PUBMED   35689852
  REMARK    GeneRIF: DNTTIP1 promotes nasopharyngeal carcinoma metastasis via
            recruiting HDAC1 to DUSP2 promoter and activating ERK signaling
            pathway.
REFERENCE   2  (residues 1 to 329)
  AUTHORS   Liu Q, Xiong J, Xu D, Hao N, Zhang Y, Sang Y, Wang Z, Zheng X, Min
            J, Diao H, Raphael J, Maleki Vareki S, Koropatnick J and Min W.
  TITLE     TdIF1-LSD1 Axis Regulates Epithelial-Mesenchymal Transition and
            Metastasis via Histone Demethylation of E-Cadherin Promoter in Lung
            Cancer
  JOURNAL   Int J Mol Sci 23 (1), 250 (2021)
   PUBMED   35008676
  REMARK    GeneRIF: TdIF1-LSD1 Axis Regulates Epithelial-Mesenchymal
            Transition and Metastasis via Histone Demethylation of E-Cadherin
            Promoter in Lung Cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 329)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 329)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 329)
  AUTHORS   Sawai Y, Kasamatsu A, Nakashima D, Fushimi K, Kasama H, Iyoda M,
            Kouzu Y, Shiiba M, Tanzawa H and Uzawa K.
  TITLE     Critical role of deoxynucleotidyl transferase terminal interacting
            protein 1 in oral cancer
  JOURNAL   Lab Invest 98 (8), 980-988 (2018)
   PUBMED   29855544
  REMARK    GeneRIF: Overexpressed deoxynucleotidyltransferase terminal
            interacting protein 1 (DNTTIP1) was observed in oral squamous cell
            carcinomas (OSCCs) in vitro and in vivo and was correlated
            positively with tumoral growth.
REFERENCE   6  (residues 1 to 329)
  AUTHORS   Kubota T, Maezawa S, Koiwai K, Hayano T and Koiwai O.
  TITLE     Identification of functional domains in TdIF1 and its inhibitory
            mechanism for TdT activity
  JOURNAL   Genes Cells 12 (8), 941-959 (2007)
   PUBMED   17663723
  REMARK    GeneRIF: The TdT binding, DNA binding and dimerization regions, and
            nuclear localization signal (NLS) in TdIF1, were identified.
REFERENCE   7  (residues 1 to 329)
  AUTHORS   Fujisaki S, Sato A, Toyomoto T, Hayano T, Sugai M, Kubota T and
            Koiwai O.
  TITLE     Direct binding of TReP-132 with TdT results in reduction of TdT
            activity
  JOURNAL   Genes Cells 11 (1), 47-57 (2006)
   PUBMED   16371131
REFERENCE   8  (residues 1 to 329)
  AUTHORS   Tomarev SI, Wistow G, Raymond V, Dubois S and Malyukova I.
  TITLE     Gene expression profile of the human trabecular meshwork: NEIBank
            sequence tag analysis
  JOURNAL   Invest Ophthalmol Vis Sci 44 (6), 2588-2596 (2003)
   PUBMED   12766061
REFERENCE   9  (residues 1 to 329)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   10 (residues 1 to 329)
  AUTHORS   Yamashita N, Shimazaki N, Ibe S, Kaneko R, Tanabe A, Toyomoto T,
            Fujita K, Hasegawa T, Toji S, Tamai K, Yamamoto H and Koiwai O.
  TITLE     Terminal deoxynucleotidyltransferase directly interacts with a
            novel nuclear protein that is homologous to p65
  JOURNAL   Genes Cells 6 (7), 641-652 (2001)
   PUBMED   11473582
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG720866.1 and AB035676.1.
            
            Summary: DNTTIP1 binds DNA and enhances the activity of terminal
            deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA
            polymerase that catalyzes the polymerization of DNA in the absence
            of a DNA template (Yamashita et al., 2001 [PubMed
            11473582]).[supplied by OMIM, Mar 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1064637.1, AB035676.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372622.8/ ENSP00000361705.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..329
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     Protein         1..329
                     /product="deoxynucleotidyltransferase terminal-interacting
                     protein 1"
                     /note="TdT binding protein; tdT-interacting factor 1;
                     terminal deoxynucleotidyltransferase-interacting factor 1"
                     /calculated_mol_wt=36882
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H147.2)"
     Region          56..147
                     /region_name="Important for dimerization.
                     /evidence=ECO:0000269|PubMed:25653165"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H147.2)"
     Region          65..132
                     /region_name="DNTTIP1_dimer"
                     /note="DNTTIP1 dimerisation domain; pfam18192"
                     /db_xref="CDD:408020"
     Region          147..178
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H147.2)"
     Site            161
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H147.2)"
     Region          164..170
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H147.2)"
     Region          197..316
                     /region_name="Important for DNA and nucleosome binding.
                     /evidence=ECO:0000269|PubMed:25653165"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H147.2)"
     CDS             1..329
                     /gene="DNTTIP1"
                     /gene_synonym="C20orf167; dJ447F3.4; Tdif1"
                     /coded_by="NM_052951.3:52..1041"
                     /db_xref="CCDS:CCDS13369.1"
                     /db_xref="GeneID:116092"
                     /db_xref="HGNC:HGNC:16160"
                     /db_xref="MIM:611388"
ORIGIN      
        1 mgatgdaeqp rgpsgaergg lelgdagaag qlvltnpwni mikhrqvqrr grrsqmttsf
       61 tdpaismdll ravlqpsine eiqtvfnkym kffqkaalnv rdnvgeevda eqliqeacrs
      121 cleqakllfs dgekviprlt helpgikrgr qaeeecahrg splpkkrkgr ppghilssdr
      181 aaagmvwkpk scepirregp kwdparlnes ttfvlgsran kalgmggtrg riyikhphlf
      241 kyaadpqdkh wlaeqhhmra tggkmaylli eedirdlaas ddyrgcldlk leelksfvlp
      301 swmvekmrky metlrteneh raveappqt
//
LOCUS       NP_056170                739 aa            linear   PRI 16-MAR-2023
DEFINITION  polycomb protein SUZ12 isoform 1 [Homo sapiens].
ACCESSION   NP_056170
VERSION     NP_056170.2
DBSOURCE    REFSEQ: accession NM_015355.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 739)
  AUTHORS   Imagawa E, Seyama R, Aoi H, Uchiyama Y, Marcarini BG, Furquim I,
            Honjo RS, Bertola DR, Kim CA and Matsumoto N.
  TITLE     Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder
  JOURNAL   Clin Genet 103 (4), 383-391 (2023)
   PUBMED   36645289
  REMARK    GeneRIF: Imagawa-Matsumoto syndrome: SUZ12-related overgrowth
            disorder.
            Review article
REFERENCE   2  (residues 1 to 739)
  AUTHORS   Shirahama Y and Yamamoto K.
  TITLE     The E2F6 Transcription Factor is Associated with the Mammalian
            SUZ12-Containing Polycomb Complex
  JOURNAL   Kurume Med J 67 (4), 171-183 (2023)
   PUBMED   36464274
  REMARK    GeneRIF: The E2F6 Transcription Factor is Associated with the
            Mammalian SUZ12-Containing Polycomb Complex.
REFERENCE   3  (residues 1 to 739)
  AUTHORS   Chen Y, Liu H, Zeng L, Li L, Lu D, Liu Z and Fu R.
  TITLE     SUZ12 participates in the proliferation of PNH clones by regulating
            histone H3K27me3 levels
  JOURNAL   J Leukoc Biol 112 (2), 243-255 (2022)
   PUBMED   34990019
  REMARK    GeneRIF: SUZ12 participates in the proliferation of PNH clones by
            regulating histone H3K27me3 levels.
REFERENCE   4  (residues 1 to 739)
  AUTHORS   Tavares M, Khandelwal G, Muter J, Viiri K, Beltran M, Brosens JJ
            and Jenner RG.
  TITLE     JAZF1-SUZ12 dysregulates PRC2 function and gene expression during
            cell differentiation
  JOURNAL   Cell Rep 39 (9), 110889 (2022)
   PUBMED   35649353
  REMARK    GeneRIF: JAZF1-SUZ12 dysregulates PRC2 function and gene expression
            during cell differentiation.
REFERENCE   5  (residues 1 to 739)
  AUTHORS   Alerasool N, Leng H, Lin ZY, Gingras AC and Taipale M.
  TITLE     Identification and functional characterization of transcriptional
            activators in human cells
  JOURNAL   Mol Cell 82 (3), 677-695 (2022)
   PUBMED   35016035
REFERENCE   6  (residues 1 to 739)
  AUTHORS   Kuzmichev A, Nishioka K, Erdjument-Bromage H, Tempst P and Reinberg
            D.
  TITLE     Histone methyltransferase activity associated with a human
            multiprotein complex containing the Enhancer of Zeste protein
  JOURNAL   Genes Dev 16 (22), 2893-2905 (2002)
   PUBMED   12435631
REFERENCE   7  (residues 1 to 739)
  AUTHORS   Cao R, Wang L, Wang H, Xia L, Erdjument-Bromage H, Tempst P, Jones
            RS and Zhang Y.
  TITLE     Role of histone H3 lysine 27 methylation in Polycomb-group
            silencing
  JOURNAL   Science 298 (5595), 1039-1043 (2002)
   PUBMED   12351676
REFERENCE   8  (residues 1 to 739)
  AUTHORS   Weinmann AS, Bartley SM, Zhang T, Zhang MQ and Farnham PJ.
  TITLE     Use of chromatin immunoprecipitation to clone novel E2F target
            promoters
  JOURNAL   Mol Cell Biol 21 (20), 6820-6832 (2001)
   PUBMED   11564866
REFERENCE   9  (residues 1 to 739)
  AUTHORS   Birve A, Sengupta AK, Beuchle D, Larsson J, Kennison JA,
            Rasmuson-Lestander A and Muller J.
  TITLE     Su(z)12, a novel Drosophila Polycomb group gene that is conserved
            in vertebrates and plants
  JOURNAL   Development 128 (17), 3371-3379 (2001)
   PUBMED   11546753
REFERENCE   10 (residues 1 to 739)
  AUTHORS   Koontz JI, Soreng AL, Nucci M, Kuo FC, Pauwels P, van Den Berghe H,
            Dal Cin P, Fletcher JA and Sklar J.
  TITLE     Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal
            tumors
  JOURNAL   Proc Natl Acad Sci U S A 98 (11), 6348-6353 (2001)
   PUBMED   11371647
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC129917.6, BI668506.1,
            DR000680.1, D63881.2 and BM975130.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 29, 2008 this sequence version replaced NP_056170.1.
            
            Summary: This zinc finger gene has been identified at the
            breakpoints of a recurrent chromosomal translocation reported in
            endometrial stromal sarcoma. Recombination of these breakpoints
            results in the fusion of this gene and JAZF1. The protein encoded
            by this gene contains a zinc finger domain in the C terminus of the
            coding region. [provided by RefSeq, Jul 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: D63881.2, SRR1803611.66483.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322652.10/ ENSP00000316578.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..739
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     Protein         1..739
                     /product="polycomb protein SUZ12 isoform 1"
                     /note="polycomb protein SUZ12; chET 9 protein; joined to
                     JAZF1 protein; suppressor of zeste 12 protein homolog;
                     chromatin precipitated E2F target 9 protein"
                     /calculated_mol_wt=82924
     Region          1..23
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15022.3)"
     Site            20
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15022.3)"
     Region          79..106
                     /region_name="Interaction with JARID2 and EPOP.
                     /evidence=ECO:0000269|PubMed:29499137"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15022.3)"
     Region          82..>110
                     /region_name="ZnB-Zn_SUZ12-like"
                     /note="zinc finger-binding (ZnB) and C2H2-type zinc finger
                     (Zn) domain found in suppressor of zeste 12 protein
                     (SUZ12), and similar proteins; cl45905"
                     /db_xref="CDD:459250"
     Site            93..94
                     /site_type="other"
                     /note="Breakpoint for translocation to form JAZF1-SUZ12
                     oncogene; propagated from UniProtKB/Swiss-Prot (Q15022.3)"
     Region          146..363
                     /region_name="Interaction with AEBP2 and PHF19.
                     /evidence=ECO:0000269|PubMed:29499137"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15022.3)"
     Region          378..399
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15022.3)"
     Region          <423..496
                     /region_name="ZnB-Zn_SUZ12"
                     /note="zinc finger-binding (ZnB) and C2H2-type zinc finger
                     (Zn) domain found in suppressor of zeste 12 protein
                     (SUZ12) and similar proteins; cd21750"
                     /db_xref="CDD:439246"
     Site            541
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15022.3)"
     Site            546
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q15022.3)"
     Region          563..684
                     /region_name="VEFS-box_SUZ12"
                     /note="VEFS (VRN2-EMF2-FIS2-Su(z)12) box found in
                     suppressor of zeste 12 protein (SUZ12) and similar
                     proteins; cd21551"
                     /db_xref="CDD:439216"
     Site            order(563..571,575,577..579,581..582,589..592,594,596,599,
                     603,605,608..610,614,617..618,621,626..632,651..655,
                     657..659,661..669,671,674..675,679,682)
                     /site_type="other"
                     /note="trimer interface [polypeptide binding]"
                     /db_xref="CDD:439216"
     Region          563..639
                     /region_name="VEFS-box"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15022.3)"
     Site            583
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336; propagated from
                     UniProtKB/Swiss-Prot (Q15022.3)"
     Region          687..739
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15022.3)"
     Site            726
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15022.3)"
     CDS             1..739
                     /gene="SUZ12"
                     /gene_synonym="CHET9; IMMAS; JJAZ1"
                     /coded_by="NM_015355.4:241..2460"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS11270.1"
                     /db_xref="GeneID:23512"
                     /db_xref="HGNC:HGNC:17101"
                     /db_xref="MIM:606245"
ORIGIN      
        1 mapqkhgggg gggsgpsags ggggfggsaa vaaatasggk sgggscgggg sysasssssa
       61 aaaagaavlp vkkpkmehvq adhelflqaf ekptqiyrfl rtrnliapif lhrtltymsh
      121 rnsrtnikrk tfkvddmlsk vekmkgeqes hslsahlqlt ftgffhkndk pspnseneqn
      181 svtlevllvk vchkkrkdvs cpirqvptgk kqvplnpdln qtkpgnfpsl avssnefeps
      241 nshmvksysl lfrvtrpgrr efngminget nenidvneel parrkrnred gektfvaqmt
      301 vfdknrrlql ldgeyevamq emeecpiskk ratwetildg krlppfetfs qgptlqftlr
      361 wtgetndkst apiakplatr nseslhqenk pgsvkptqti avkeslttdl qtrkekdtpn
      421 enrqklrify qflynnntrq qtearddlhc pwctlncrkl ysllkhlklc hsrfifnyvy
      481 hpkgaridvs inecydgsya gnpqdihrqp gfafsrngpv krtpithilv crpkrtkasm
      541 seflesedge veqqrtyssg hnrlyfhsdt clplrpqeme vdsedekdpe wlrektitqi
      601 eefsdvnege kevmklwnlh vmkhgfiadn qmnhacmlfv enygqkiikk nlcrnfmlhl
      661 vsmhdfnlis imsidkavtk lremqqklek gesaspanee iteeqngtan gfseinskek
      721 aletdsvsgv skqskkqkl
//
LOCUS       NP_963863               1178 aa            linear   PRI 16-MAR-2023
DEFINITION  nonsense-mediated mRNA decay factor SMG7 isoform 4 [Homo sapiens].
ACCESSION   NP_963863
VERSION     NP_963863.2
DBSOURCE    REFSEQ: accession NM_201569.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1178)
  AUTHORS   Song X, Ru M, Steinsnyder Z, Tkachuk K, Kopp RP, Sullivan J, Gumus
            ZH, Offit K, Joseph V and Klein RJ.
  TITLE     SNPs at SMG7 Associated with Time from Biochemical Recurrence to
            Prostate Cancer Death
  JOURNAL   Cancer Epidemiol Biomarkers Prev 31 (7), 1466-1472 (2022)
   PUBMED   35511739
  REMARK    GeneRIF: SNPs at SMG7 Associated with Time from Biochemical
            Recurrence to Prostate Cancer Death.
REFERENCE   2  (residues 1 to 1178)
  AUTHORS   Boehm V, Kueckelmann S, Gerbracht JV, Kallabis S, Britto-Borges T,
            Altmuller J, Kruger M, Dieterich C and Gehring NH.
  TITLE     SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6
            endonucleolytic activity
  JOURNAL   Nat Commun 12 (1), 3965 (2021)
   PUBMED   34172724
  REMARK    GeneRIF: SMG5-SMG7 authorize nonsense-mediated mRNA decay by
            enabling SMG6 endonucleolytic activity.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1178)
  AUTHORS   Ho K, Luo H, Zhu W and Tang Y.
  TITLE     Critical role of SMG7 in activation of the ATR-CHK1 axis in
            response to genotoxic stress
  JOURNAL   Sci Rep 11 (1), 7502 (2021)
   PUBMED   33820915
  REMARK    GeneRIF: Critical role of SMG7 in activation of the ATR-CHK1 axis
            in response to genotoxic stress.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1178)
  AUTHORS   Yang L, Kraft VAN, Pfeiffer S, Merl-Pham J, Bao X, An Y, Hauck SM
            and Schick JA.
  TITLE     Nonsense-mediated decay factor SMG7 sensitizes cells to
            TNFalpha-induced apoptosis via CYLD tumor suppressor and the
            noncoding oncogene Pvt1
  JOURNAL   Mol Oncol 14 (10), 2420-2435 (2020)
   PUBMED   32602581
  REMARK    GeneRIF: Nonsense-mediated decay factor SMG7 sensitizes cells to
            TNFalpha-induced apoptosis via CYLD tumor suppressor and the
            noncoding oncogene Pvt1.
REFERENCE   5  (residues 1 to 1178)
  AUTHORS   Cowen LE, Luo H and Tang Y.
  TITLE     Characterization of SMG7 14-3-3-like domain reveals phosphoserine
            binding-independent regulation of p53 and UPF1
  JOURNAL   Sci Rep 9 (1), 13097 (2019)
   PUBMED   31511540
  REMARK    GeneRIF: Characterization of SMG7 14-3-3-like domain reveals
            phosphoserine binding-independent regulation of p53 and UPF1.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1178)
  AUTHORS   Unterholzner L and Izaurralde E.
  TITLE     SMG7 acts as a molecular link between mRNA surveillance and mRNA
            decay
  JOURNAL   Mol Cell 16 (4), 587-596 (2004)
   PUBMED   15546618
REFERENCE   7  (residues 1 to 1178)
  AUTHORS   Ohnishi T, Yamashita A, Kashima I, Schell T, Anders KR, Grimson A,
            Hachiya T, Hentze MW, Anderson P and Ohno S.
  TITLE     Phosphorylation of hUPF1 induces formation of mRNA surveillance
            complexes containing hSMG-5 and hSMG-7
  JOURNAL   Mol Cell 12 (5), 1187-1200 (2003)
   PUBMED   14636577
  REMARK    GeneRIF: Data show that phosphorylated hUPF1, the human ortholog of
            UPF1/SMG-2, forms a complex with human orthologs of the
            Caenorhabditis elegans proteins SMG-5 and SMG-7.
REFERENCE   8  (residues 1 to 1178)
  AUTHORS   Snow BE, Erdmann N, Cruickshank J, Goldman H, Gill RM, Robinson MO
            and Harrington L.
  TITLE     Functional conservation of the telomerase protein Est1p in humans
  JOURNAL   Curr Biol 13 (8), 698-704 (2003)
   PUBMED   12699629
REFERENCE   9  (residues 1 to 1178)
  AUTHORS   Reichenbach P, Hoss M, Azzalin CM, Nabholz M, Bucher P and Lingner
            J.
  TITLE     A human homolog of yeast Est1 associates with telomerase and uncaps
            chromosome ends when overexpressed
  JOURNAL   Curr Biol 13 (7), 568-574 (2003)
   PUBMED   12676087
REFERENCE   10 (residues 1 to 1178)
  AUTHORS   Sood R, Bonner TI, Makalowska I, Stephan DA, Robbins CM, Connors
            TD, Morgenbesser SD, Su K, Faruque MU, Pinkett H, Graham C,
            Baxevanis AD, Klinger KW, Landes GM, Trent JM and Carpten JD.
  TITLE     Cloning and characterization of 13 novel transcripts and the human
            RGS8 gene from the 1q25 region encompassing the hereditary prostate
            cancer (HPC1) locus
  JOURNAL   Genomics 73 (2), 211-222 (2001)
   PUBMED   11318611
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB223038.1, BC036381.1,
            AB085674.1, AK299178.1, AL137800.12 and CN479993.1.
            On Mar 23, 2010 this sequence version replaced NP_963863.1.
            
            Summary: This gene encodes a protein that is essential for
            nonsense-mediated mRNA decay (NMD); a process whereby transcripts
            with premature termination codons are targeted for rapid
            degradation by a mRNA decay complex. The mRNA decay complex
            consists, in part, of this protein along with proteins SMG5 and
            UPF1. The N-terminal domain of this protein is thought to mediate
            its association with SMG5 or UPF1 while the C-terminal domain
            interacts with the mRNA decay complex. This protein may therefore
            couple changes in UPF1 phosphorylation state to the degradation of
            NMD-candidate transcripts. Alternative splicing results in multiple
            transcript variants encoding distinct isoforms. [provided by
            RefSeq, Aug 2011].
            
            Transcript Variant: This variant (4) has multiple differences in
            the coding region compared to variant 1, one of which results in a
            translational frameshift. The resulting protein (isoform 4) has a
            distinct C-terminus and is longer than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC036381.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1178
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.3"
     Protein         1..1178
                     /product="nonsense-mediated mRNA decay factor SMG7 isoform
                     4"
                     /EC_number="2.7.11.1"
                     /note="ever shorter telomeres 1C; EST1 telomerase
                     component homolog C; breast cancer-associated antigen
                     SGA-56M; EST1-like protein C; smg-7 homolog, nonsense
                     mediated mRNA decay factor; nonsense-mediated mRNA decay
                     factor SMG7"
                     /calculated_mol_wt=131519
     Region          55..167
                     /region_name="EST1"
                     /note="Telomerase activating protein Est1; pfam10374"
                     /db_xref="CDD:431240"
     Region          154..180
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(156..157,160..161,163,187,190..191,194..195,
                     197..198,221,224..225,228..229,232)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          171..431
                     /region_name="EST1_DNA_bind"
                     /note="Est1 DNA/RNA binding domain; pfam10373"
                     /db_xref="CDD:431239"
     Region          185..215
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          <640..815
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     CDS             1..1178
                     /gene="SMG7"
                     /gene_synonym="C1orf16; EST1C; SGA56M"
                     /coded_by="NM_201569.3:123..3659"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS41445.2"
                     /db_xref="GeneID:9887"
                     /db_xref="HGNC:HGNC:16792"
                     /db_xref="MIM:610964"
ORIGIN      
        1 mslqsaqylr qaevlkadmt dsklgpaevw tsrqalqdly qkmlvtdley aldkkveqdl
       61 wnhafknqit tlqgqaknra npnrsevqan lslfleaasg fytqllqelc tvfnvdlpcr
      121 vkssqlgiis nkqthtsaiv kpqssscsyi cqhclvhlgd iaryrnqtsq aesyyrhaaq
      181 lvpsngqpyn qlailasskg dhlttifyyc rsiavkfpfp aastnlqkal skalesrdev
      241 ktkwgvsdfi kafikfhghv ylskslekls plrekleeqf krllfqkafn sqqlvhvtvi
      301 nlfqlhhlrd fsneteqhty sqdeqlcwtq llalfmsflg ilckcplqne sqeesynayp
      361 lpavkvsmdw lrlrprvfqe avvderqyiw pwlisllnsf hpheedlssi satplpeefe
      421 lqgflalrps frnldfskgh qgitgdkegq qrrirqqrli sigkwiadnq prliqcenev
      481 gkllfiteip eliledpsea kenlilqets vieslaadgs pglksvlsts rnlsnncdtg
      541 ekpvvtfken iktrevnrdq grsfppkevk sqtelrktpv searktpvtq tptqasnsqf
      601 ipihhpgafp plpsrpgfpp ptyvipppva fsmgsgytfp agvsvpgtfl qptahspagn
      661 qvqagkqshi pysqqrpsgp gpmnqgpqqs qppsqqplts lpaqptaqst sqlqvqaltq
      721 qqqsptkavp algkspphhs gfqqyqqada skqlwnppqv qgplgkimpv kqpyylqtqd
      781 piklfepslq ppvmqqqple kkmkpfpmep ynhnpsevkv pefywdssys madnrsvmaq
      841 qanidrrgkr spgvfrpeqd pvprmpfedp ksspllppdl lkslaaleee eelifsnppd
      901 lypallgpla slpgrslfks llekpselms hsssflsltg fslnqerypn nsmfnevygk
      961 nltssskael spsmapqets lyslfegtpw spslpassdh stpasqsphs snpsslpssp
     1021 pthnhnsvpf snfgpigtpd nrdrrtadrw ktdkpamggf gidylsatss sesswhqast
     1081 psgtwtghgp smedssavlm eslkkqqhgv qqlgpkrqse eegsssicva hrgprplpsc
     1141 slpastfrvk fkaartcahq aqkktrrrpf wkrrkkgk
//
LOCUS       NP_001408                611 aa            linear   PRI 16-MAR-2023
DEFINITION  eukaryotic translation initiation factor 4B isoform 2 [Homo
            sapiens].
ACCESSION   NP_001408
VERSION     NP_001408.2
DBSOURCE    REFSEQ: accession NM_001417.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 611)
  AUTHORS   Cao Y, Chen Z, Qin Z, Qian K, Liu T and Zhang Y.
  TITLE     CDKN2AIP-induced cell senescence and apoptosis of testicular
            seminoma are associated with CARM1 and eIF4beta
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 54 (5), 604-614 (2022)
   PUBMED   35593475
  REMARK    GeneRIF: CDKN2AIP-induced cell senescence and apoptosis of
            testicular seminoma are associated with CARM1 and eIF4beta.
REFERENCE   2  (residues 1 to 611)
  AUTHORS   Iwao Y, Okamoto Y, Shirahama H, Tsukahara S and Tomida A.
  TITLE     eIF4B enhances ATF4 expression and contributes to cellular
            adaptation to asparagine limitation in BRAF-mutated A375 melanoma
  JOURNAL   Biochem Biophys Res Commun 573, 93-99 (2021)
   PUBMED   34403810
  REMARK    GeneRIF: eIF4B enhances ATF4 expression and contributes to cellular
            adaptation to asparagine limitation in BRAF-mutated A375 melanoma.
REFERENCE   3  (residues 1 to 611)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 611)
  AUTHORS   Xu J, Lu Y, Liu Q, Xia A, Zhao J, Xu X, Sun Q, Qi F and Sun B.
  TITLE     Long noncoding RNA GMAN promotes hepatocellular carcinoma
            progression by interacting with eIF4B
  JOURNAL   Cancer Lett 473, 1-12 (2020)
   PUBMED   31875526
  REMARK    GeneRIF: Long noncoding RNA GMAN promotes hepatocellular carcinoma
            progression by interacting with eIF4B.
REFERENCE   5  (residues 1 to 611)
  AUTHORS   Goodman LD, Prudencio M, Srinivasan AR, Rifai OM, Lee VM,
            Petrucelli L and Bonini NM.
  TITLE     eIF4B and eIF4H mediate GR production from expanded G4C2 in a
            Drosophila model for C9orf72-associated ALS
  JOURNAL   Acta Neuropathol Commun 7 (1), 62 (2019)
   PUBMED   31023341
  REMARK    GeneRIF: eIF4B and eIF4H mediate GR production from expanded G4C2
            in a Drosophila model for C9orf72-associated amyotrophic lateral
            sclerosis.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 611)
  AUTHORS   Methot N, Song MS and Sonenberg N.
  TITLE     A region rich in aspartic acid, arginine, tyrosine, and glycine
            (DRYG) mediates eukaryotic initiation factor 4B (eIF4B)
            self-association and interaction with eIF3
  JOURNAL   Mol Cell Biol 16 (10), 5328-5334 (1996)
   PUBMED   8816444
REFERENCE   7  (residues 1 to 611)
  AUTHORS   Naranda T, Strong WB, Menaya J, Fabbri BJ and Hershey JW.
  TITLE     Two structural domains of initiation factor eIF-4B are involved in
            binding to RNA
  JOURNAL   J Biol Chem 269 (20), 14465-14472 (1994)
   PUBMED   8182051
REFERENCE   8  (residues 1 to 611)
  AUTHORS   Methot N, Pause A, Hershey JW and Sonenberg N.
  TITLE     The translation initiation factor eIF-4B contains an RNA-binding
            region that is distinct and independent from its ribonucleoprotein
            consensus sequence
  JOURNAL   Mol Cell Biol 14 (4), 2307-2316 (1994)
   PUBMED   8139536
REFERENCE   9  (residues 1 to 611)
  AUTHORS   Milburn SC, Hershey JW, Davies MV, Kelleher K and Kaufman RJ.
  TITLE     Cloning and expression of eukaryotic initiation factor 4B cDNA:
            sequence determination identifies a common RNA recognition motif
  JOURNAL   EMBO J 9 (9), 2783-2790 (1990)
   PUBMED   2390971
REFERENCE   10 (residues 1 to 611)
  AUTHORS   Howe,J.G. and Hershey,J.W.
  TITLE     Translational initiation factor and ribosome association with the
            cytoskeletal framework fraction from HeLa cells
  JOURNAL   Cell 37 (1), 85-93 (1984)
   PUBMED   6722878
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AC068888.35.
            On Jul 8, 2004 this sequence version replaced NP_001408.1.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region compared to variant 1. The
            encoded isoform (2) is shorter than isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.19838.1,
                                           SRR1803614.213627.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262056.14/ ENSP00000262056.9
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..611
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     Protein         1..611
                     /product="eukaryotic translation initiation factor 4B
                     isoform 2"
                     /calculated_mol_wt=69020
     Region          1..37
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P23588.2)"
     Region          66..93
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P23588.2)"
     Site            93
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P23588.2)"
     Region          94..175
                     /region_name="RRM_eIF4B"
                     /note="RNA recognition motif (RRM) found in eukaryotic
                     translation initiation factor 4B (eIF-4B) and similar
                     proteins; cd12402"
                     /db_xref="CDD:409836"
     Region          <158..>273
                     /region_name="PRK12678"
                     /note="transcription termination factor Rho; Provisional"
                     /db_xref="CDD:237171"
     Region          173..611
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P23588.2)"
     Site            192
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Site            207
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Site            219
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P23588.2)"
     Site            283
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Site            359
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Site            365
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8BGD9; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Region          <372..608
                     /region_name="PTZ00108"
                     /note="DNA topoisomerase 2-like protein; Provisional"
                     /db_xref="CDD:240271"
     Site            406
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by RPS6KA1.
                     /evidence=ECO:0000269|PubMed:35772404,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P23588.2)"
     Site            409
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Site            412
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Site            418
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Site            422
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by RPS6KA1 and RPS6KB1.
                     /evidence=ECO:0000269|PubMed:15071500,
                     ECO:0000269|PubMed:16763566, ECO:0000269|PubMed:35772404,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Site            425
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Site            445
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P23588.2)"
     Site            459
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Site            462
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Site            497
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BGD9; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Site            498
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P23588.2)"
     Site            500
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8BGD9; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Site            504
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P23588.2)"
     Site            506
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8BGD9; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Site            586
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P23588.2)"
     Site            597
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P23588.2)"
     CDS             1..611
                     /gene="EIF4B"
                     /gene_synonym="EIF-4B; PRO1843"
                     /coded_by="NM_001417.7:29..1864"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS41788.1"
                     /db_xref="GeneID:1975"
                     /db_xref="HGNC:HGNC:3285"
                     /db_xref="MIM:603928"
ORIGIN      
        1 maasakkknk kgktisltdf laedggtggg styvskpvsw adetddlegd vsttwhsndd
       61 dvyrappidr silptapraa repnidrsrl pksppytafl gnlpydvtee sikeffrgln
      121 isavrlprep snperlkgfg yaefedldsl lsalslnees lgnrrirvdv adqaqdkdrd
      181 drsfgrdrnr dsdktdtdwr arpatdsfdd ypprrgddsf gdkyrdryds dryrdgyrdg
      241 yrdgprrdmd ryggrdrydd rgsrdydrgy dsrigsgrra fgsgyrrddd yrgggdryed
      301 rydrrddrsw ssrddysrdd yrrddrgppq rpklnlkprs tpkeddssas tsqstraasi
      361 fggakpvdta arereveerl qkeqeklqrq ldepklerrp rerhpswrse etqerersrt
      421 gsessqtgts ttssrnarrr esekslenet lnkeedchsp tskppkpdqp lkvmpapppk
      481 enawvkrssn pparsqssdt eqqsptsggg kvapaqpsee gpgrkdenkv dgmnapkgqt
      541 gnssrgpgdg gnrdhwkesd rkdgkkdqds rsapepkkpe enpaskfssa skyaalsvdg
      601 edenegedya e
//
LOCUS       NP_001017989             180 aa            linear   PRI 17-MAR-2023
DEFINITION  optic atrophy 3 protein isoform a [Homo sapiens].
ACCESSION   NP_001017989
VERSION     NP_001017989.2
DBSOURCE    REFSEQ: accession NM_001017989.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 180)
  AUTHORS   Gaier ED, Sahai I, Wiggs JL, McGeeney B, Hoffman J and Peeler CE.
  TITLE     Novel homozygous OPA3 mutation in an Afghani family with
            3-methylglutaconic aciduria type III and optic atrophy
  JOURNAL   Ophthalmic Genet 40 (6), 570-573 (2019)
   PUBMED   31928268
  REMARK    GeneRIF: Homozygous OPA3 mutation is associated with
            3-methylglutaconic aciduria type III and optic atrophy.
REFERENCE   2  (residues 1 to 180)
  AUTHORS   Yang Z, Zhang Y, Wang X, Huang J, Guo W, Wei P, Li G, Wang Z, Huang
            Z and Zhang L.
  TITLE     Putative biomarkers of malignant transformation of sinonasal
            inverted papilloma into squamous cell carcinoma
  JOURNAL   J Int Med Res 47 (6), 2371-2380 (2019)
   PUBMED   30991875
  REMARK    GeneRIF: Low OPA3 expression is associated with squamous cell
            carcinoma in Paranasal Sinus Neoplasms.
REFERENCE   3  (residues 1 to 180)
  AUTHORS   Chen J, Xu K, Zhang X, Jiang F, Liu L, Dong B, Ren Y and Li Y.
  TITLE     Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in
            a Chinese cohort with suspected hereditary optic atrophy
  JOURNAL   Invest Ophthalmol Vis Sci 55 (10), 6987-6995 (2014)
   PUBMED   25205859
  REMARK    GeneRIF: Mutations of the OPA3 gene can cause either autosomal
            dominant or autosomal recessive optic atrophy.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 180)
  AUTHORS   Grau T, Burbulla LF, Engl G, Delettre C, Delprat B, Oexle K,
            Leo-Kottler B, Roscioli T, Kruger R, Rapaport D, Wissinger B and
            Schimpf-Linzenbold S.
  TITLE     A novel heterozygous OPA3 mutation located in the mitochondrial
            target sequence results in altered steady-state levels and
            fragmented mitochondrial network
  JOURNAL   J Med Genet 50 (12), 848-858 (2013)
   PUBMED   24136862
  REMARK    GeneRIF: Report the results of a comprehensive study on OPA3
            mutations, including the mutation spectrum and its prevalence in a
            large cohort of ADOA patients, the associated clinical phenotype
            and the functional characterisation of a newly identified OPA3
            mutant.
REFERENCE   5  (residues 1 to 180)
  AUTHORS   Da Cruz S, Xenarios I, Langridge J, Vilbois F, Parone PA and
            Martinou JC.
  TITLE     Proteomic analysis of the mouse liver mitochondrial inner membrane
  JOURNAL   J Biol Chem 278 (42), 41566-41571 (2003)
   PUBMED   12865426
  REMARK    GeneRIF: The mouse ortholog of OPA3 purifies with mitochondrial
            inner membranes.
REFERENCE   6  (residues 1 to 180)
  AUTHORS   Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA and Anikster
            Y.
  TITLE     3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred:
            clinical and molecular findings
  JOURNAL   Mol Genet Metab 76 (3), 201-206 (2002)
   PUBMED   12126933
REFERENCE   7  (residues 1 to 180)
  AUTHORS   Anikster Y, Kleta R, Shaag A, Gahl WA and Elpeleg O.
  TITLE     Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome,
            or Costeff optic atrophy syndrome): identification of the OPA3 gene
            and its founder mutation in Iraqi Jews
  JOURNAL   Am J Hum Genet 69 (6), 1218-1224 (2001)
   PUBMED   11668429
  REMARK    GeneRIF: type III 3-methylglutaconic aciduria (optic atrophy plus
            syndrome, or Costeff optic atrophy syndrome): identification of the
            OPA3 gene and its founder mutation in Iraqi Jews
REFERENCE   8  (residues 1 to 180)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   9  (residues 1 to 180)
  AUTHORS   Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonne-Tamir B,
            Mohrenweiser H, Haider N, Stone EM and Sheffield VC.
  TITLE     Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic
            aciduria type 3) demonstrate linkage disequilibrium with the CTG
            repeat in the 3' untranslated region of the myotonic dystrophy
            protein kinase gene
  JOURNAL   Hum Mol Genet 6 (4), 563-569 (1997)
   PUBMED   9097959
REFERENCE   10 (residues 1 to 180)
  AUTHORS   Anikster,Y.
  TITLE     Costeff Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301646
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB034102.1, BC047316.1 and
            AC006117.1.
            On Aug 22, 2007 this sequence version replaced NP_001017989.1.
            
            Summary: The mouse ortholog of this protein co-purifies with the
            mitochondrial inner membrane. Mutations in this gene have been
            shown to result in 3-methylglutaconic aciduria type III and
            autosomal dominant optic atrophy and cataract. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) uses an alternate splice site
            resulting in a distinct 3' coding region and 3' UTR, compared to
            variant 2. The resulting isoform (a) has a longer and distinct
            C-terminus, compared to isoform b.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK098798.1, BC047316.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 18614015, 12865426;
                                                  reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..180
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     Protein         1..180
                     /product="optic atrophy 3 protein isoform a"
                     /note="optic atrophy 3 protein; Optic atrophy 3
                     (Iraqi-Jewish 'optic atrophy plus'); optic atrophy 3
                     (autosomal recessive, with chorea and spastic paraplegia);
                     OPA3 outer mitochondrial membrane lipid metabolism
                     regulator; 3-methylglutaconic aciduria type III"
                     /calculated_mol_wt=20124
     Region          9..129
                     /region_name="OPA3"
                     /note="Optic atrophy 3 protein (OPA3); pfam07047"
                     /db_xref="CDD:429263"
     CDS             1..180
                     /gene="OPA3"
                     /gene_synonym="MGA3"
                     /coded_by="NM_001017989.3:39..581"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS33052.1"
                     /db_xref="GeneID:80207"
                     /db_xref="HGNC:HGNC:8142"
                     /db_xref="MIM:606580"
ORIGIN      
        1 mvvgafpmak llylgirqvs kplanrikea arrseffkty iclppaqlyh wlemrtkmri
       61 mgfnaaaikp lnegaaaelg aellgegiif itacsclmle ywrhqlqqrr kekerrvare
      121 alrgevghlg laleelqaqv qatstqlale elraqlqevr ahlclrdppp appvapasek
//
LOCUS       NP_001070834             671 aa            linear   PRI 18-MAR-2023
DEFINITION  protein O-mannosyl-transferase 1 isoform c [Homo sapiens].
ACCESSION   NP_001070834
VERSION     NP_001070834.1
DBSOURCE    REFSEQ: accession NM_001077366.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 671)
  AUTHORS   Gan S, Yang H, Xiao T, Pan Z and Wu L.
  TITLE     POMT1 and POMT2 gene mutations result in 2 cases of
            alpha-dystroglycanopathy
  JOURNAL   Zhong Nan Da Xue Xue Bao Yi Xue Ban 46 (8), 915-919 (2021)
   PUBMED   34565739
  REMARK    GeneRIF: POMT1 and POMT2 gene mutations result in 2 cases of
            alpha-dystroglycanopathy.', trans 'POMT1POMT22alpha-.
REFERENCE   2  (residues 1 to 671)
  AUTHORS   Vuorela A, Freitag TL, Leskinen K, Pessa H, Harkonen T, Stracenski
            I, Kirjavainen T, Olsen P, Saarenpaa-Heikkila O, Ilonen J, Knip M,
            Vaheri A, Partinen M, Saavalainen P, Meri S and Vaarala O.
  TITLE     Enhanced influenza A H1N1 T cell epitope recognition and
            cross-reactivity to protein-O-mannosyltransferase 1 in
            Pandemrix-associated narcolepsy type 1
  JOURNAL   Nat Commun 12 (1), 2283 (2021)
   PUBMED   33863907
  REMARK    GeneRIF: Enhanced influenza A H1N1 T cell epitope recognition and
            cross-reactivity to protein-O-mannosyltransferase 1 in
            Pandemrix-associated narcolepsy type 1.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 671)
  AUTHORS   Hu P, Yuan L and Deng H.
  TITLE     Molecular genetics of the POMT1-related muscular
            dystrophy-dystroglycanopathies
  JOURNAL   Mutat Res Rev Mutat Res 778, 45-50 (2018)
   PUBMED   30454682
  REMARK    GeneRIF: In this review, we highlight the present knowledge of the
            identified disease-associated POMT1 gene mutations and genetic
            animal models related to the POMT1 gene.
            Review article
REFERENCE   4  (residues 1 to 671)
  AUTHORS   Chen C, Mei S, Zhu C, Ren Y and Kong X.
  TITLE     [Analysis of POMT1 gene mutation in a pedigree affected with
            congenital muscular dystrophy]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 35 (1), 78-80 (2018)
   PUBMED   29419866
  REMARK    GeneRIF: The child was found to carry a heterozygous missense
            mutation c.1939G>A (p.Ala647Thr) in exon 19 of the
            protein-O-mannosyltransferase 1 (POMT1) gene inherited from the
            mother and a heterozygous frameshift mutation c.2141delG
            (p.Trp714Ter) in exon 20 inherited from the father.
REFERENCE   5  (residues 1 to 671)
  AUTHORS   Sabatelli P, Columbaro M, Mura I, Capanni C, Lattanzi G, Maraldi
            NM, Beltran-Valero de Barnabe D, van Bokoven H, Squarzoni S and
            Merlini L.
  TITLE     Extracellular matrix and nuclear abnormalities in skeletal muscle
            of a patient with Walker-Warburg syndrome caused by POMT1 mutation
  JOURNAL   Biochim Biophys Acta 1638 (1), 57-62 (2003)
   PUBMED   12757935
  REMARK    GeneRIF: Extracellular matrix and nuclear abnormalities in skeletal
            muscle of a patient with Walker-Warburg syndrome caused by POMT1
            mutation.
REFERENCE   6  (residues 1 to 671)
  AUTHORS   Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J,
            van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat
            D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA,
            van Bokhoven H and Brunner HG.
  TITLE     Mutations in the O-mannosyltransferase gene POMT1 give rise to the
            severe neuronal migration disorder Walker-Warburg syndrome
  JOURNAL   Am J Hum Genet 71 (5), 1033-1043 (2002)
   PUBMED   12369018
  REMARK    GeneRIF: Mutations in the O-mannosyltransferase gene POMT1 give
            rise to the severe neuronal migration disorder Walker-Warburg
            syndrome
REFERENCE   7  (residues 1 to 671)
  AUTHORS   Jurado LA, Coloma A and Cruces J.
  TITLE     Identification of a human homolog of the Drosophila rotated abdomen
            gene (POMT1) encoding a putative protein O-mannosyl-transferase,
            and assignment to human chromosome 9q34.1
  JOURNAL   Genomics 58 (2), 171-180 (1999)
   PUBMED   10366449
REFERENCE   8  (residues 1 to 671)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   9  (residues 1 to 671)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   10 (residues 1 to 671)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301468
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL358781.19.
            
            Summary: The protein encoded by this gene is an
            O-mannosyltransferase that requires interaction with the product of
            the POMT2 gene for enzymatic function. The encoded protein is found
            in the membrane of the endoplasmic reticulum. Defects in this gene
            are a cause of Walker-Warburg syndrome (WWS) and limb-girdle
            muscular dystrophy type 2K (LGMD2K). Several transcript variants
            encoding different isoforms have been found for this gene.[provided
            by RefSeq, Oct 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074888.1, SRR1803613.171671.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..671
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13"
     Protein         1..671
                     /product="protein O-mannosyl-transferase 1 isoform c"
                     /EC_number="2.4.1.109"
                     /note="protein O-mannosyl-transferase 1;
                     dolichyl-phosphate-mannose--protein mannosyltransferase 1;
                     testis tissue sperm-binding protein Li 57p"
                     /calculated_mol_wt=76164
     Region          6..666
                     /region_name="PMT1"
                     /note="Dolichyl-phosphate-mannose--protein O-mannosyl
                     transferase [Posttranslational modification, protein
                     turnover, chaperones]; COG1928"
                     /db_xref="CDD:224839"
     CDS             1..671
                     /gene="POMT1"
                     /gene_synonym="LGMD2K; LGMDR11; MDDGA1; MDDGB1; MDDGC1;
                     RT"
                     /coded_by="NM_001077366.2:197..2212"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS43895.1"
                     /db_xref="GeneID:10585"
                     /db_xref="HGNC:HGNC:9202"
                     /db_xref="MIM:607423"
ORIGIN      
        1 mkqiffldds gppfghmvla lggylggfdg nflwnrigae yssnvpvwsl rllpalagal
       61 svpmayqivl elhfshcaam gaallmlien alitqsrlml lesvliffnl lavlsylkff
      121 ncqkhspfsl swwfwltltg vacscavgik ymgvftyvlv lgvaavhawh llgdqtlsnv
      181 cvfchllara vallvipvvl yllffyvhli lvfrsgphdq imssafqasl egglaritqg
      241 qplevafgsq vtlrnvfgkp vpcwlhshqd typmiyengr gsshqqqvtc ypfkdvnnww
      301 ivkdprrhql vvsspprpvr hgdmvqlvhg mttrslnthd vaaplsphsq evscyidyni
      361 smpaqnlwrl eivnrgsdtd vwktilsevr fvhvntsavl klsgahlpdw gyrqleivge
      421 klsrgyhgst vwnveehryg asqeqrerer elhspaqvdv srnlsfmarf selqwrmlal
      481 rsddsehkys ssplewvtld tniaywlhpr tsaqihllgn iviwvsgsla laiyallslw
      541 yllrrrrnvh dlpqdawlrw vlagalcagg wavnylpffl mektlflyhy lpaltfqill
      601 lpvvlqhisd hlcrsqlqrs ifsalvvawy ssachvsntl rpltygdksl sphelkalrw
      661 kdswdilirk h
//
LOCUS       NP_001371428             434 aa            linear   PRI 19-MAR-2023
DEFINITION  interferon alpha/beta receptor 1 isoform 3 precursor [Homo
            sapiens].
ACCESSION   NP_001371428
VERSION     NP_001371428.1
DBSOURCE    REFSEQ: accession NM_001384499.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 434)
  AUTHORS   Xiong J, Jiang Y, Zhang J, Chen Y and Hu Y.
  TITLE     CK1alpha upregulates the IFNAR1 expression to prompt the anti-HBV
            effect of type I IFN in hepatoma carcinoma cells
  JOURNAL   Virol Sin 37 (6), 894-903 (2022)
   PUBMED   35985475
  REMARK    GeneRIF: CK1alpha upregulates the IFNAR1 expression to prompt the
            anti-HBV effect of type I IFN in hepatoma carcinoma cells.
REFERENCE   2  (residues 1 to 434)
  AUTHORS   Yang L, Zhang X, Huang X, Dong X, Jing S, Zhang Y, Zhao B, Wang Z
            and Qu H.
  TITLE     Correlation between IFNAR1 expression in peripheral blood T
            lymphocytes and inflammatory cytokines, tumor-infiltrating
            lymphocytes, and chemosensitivity in patients with colorectal
            cancer
  JOURNAL   Cytokine 159, 156008 (2022)
   PUBMED   36063748
  REMARK    GeneRIF: Correlation between IFNAR1 expression in peripheral blood
            T lymphocytes and inflammatory cytokines, tumor-infiltrating
            lymphocytes, and chemosensitivity in patients with colorectal
            cancer.
REFERENCE   3  (residues 1 to 434)
  AUTHORS   Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J,
            Liu Z, Moncada-Velez M, Kendir-Demirkol Y, Jing H, Bizien L,
            Marchal A, Abolhassani H, Delafontaine S, Bucciol G, Bayhan GI,
            Keles S, Kiykim A, Hancerli S, Haerynck F, Florkin B, Hatipoglu N,
            Ozcelik T, Morelle G, Zatz M, Ng LFP, Lye DC, Young BE, Leo YS,
            Dalgard CL, Lifton RP, Renia L, Meyts I, Jouanguy E, Hammarstrom L,
            Pan-Hammarstrom Q, Boisson B, Bastard P, Su HC, Boisson-Dupuis S,
            Abel L, Rice CM, Zhang SY, Cobat A and Casanova JL.
  CONSRTM   COVID Human Genetic Effort
  TITLE     Recessive inborn errors of type I IFN immunity in children with
            COVID-19 pneumonia
  JOURNAL   J Exp Med 219 (8) (2022)
   PUBMED   35708626
  REMARK    GeneRIF: Recessive inborn errors of type I IFN immunity in children
            with COVID-19 pneumonia.
REFERENCE   4  (residues 1 to 434)
  AUTHORS   C West R, Ezashi T, B Schoolcraft W and Yuan Y.
  TITLE     Beyond fusion: A novel role for ERVW-1 in trophoblast proliferation
            and type I interferon receptor expression
  JOURNAL   Placenta 126, 150-159 (2022)
   PUBMED   35816776
  REMARK    GeneRIF: Beyond fusion: A novel role for ERVW-1 in trophoblast
            proliferation and type I interferon receptor expression.
REFERENCE   5  (residues 1 to 434)
  AUTHORS   Bastard P, Hsiao KC, Zhang Q, Choin J, Best E, Chen J, Gervais A,
            Bizien L, Materna M, Harmant C, Roux M, Hawley NL, Weeks DE,
            McGarvey ST, Sandoval K, Barberena-Jonas C, Quinto-Cortes CD,
            Hagelberg E, Mentzer AJ, Robson K, Coulibaly B, Seeleuthner Y,
            Bigio B, Li Z, Uze G, Pellegrini S, Lorenzo L, Sbihi Z, Latour S,
            Besnard M, Adam de Beaumais T, Jacqz Aigrain E, Beziat V, Deka R,
            Esera Tulifau L, Viali S, Reupena MS, Naseri T, McNaughton P,
            Sarkozy V, Peake J, Blincoe A, Primhak S, Stables S, Gibson K, Woon
            ST, Drake KM, Hill AVS, Chan CY, King R, Ameratunga R, Teiti I,
            Aubry M, Cao-Lormeau VM, Tangye SG, Zhang SY, Jouanguy E, Gray P,
            Abel L, Moreno-Estrada A, Minster RL, Quintana-Murci L, Wood AC and
            Casanova JL.
  TITLE     A loss-of-function IFNAR1 allele in Polynesia underlies severe
            viral diseases in homozygotes
  JOURNAL   J Exp Med 219 (6) (2022)
   PUBMED   35442418
  REMARK    GeneRIF: A loss-of-function IFNAR1 allele in Polynesia underlies
            severe viral diseases in homozygotes.
REFERENCE   6  (residues 1 to 434)
  AUTHORS   Colamonici O, Yan H, Domanski P, Handa R, Smalley D, Mullersman J,
            Witte M, Krishnan K and Krolewski J.
  TITLE     Direct binding to and tyrosine phosphorylation of the alpha subunit
            of the type I interferon receptor by p135tyk2 tyrosine kinase
  JOURNAL   Mol Cell Biol 14 (12), 8133-8142 (1994)
   PUBMED   7526154
REFERENCE   7  (residues 1 to 434)
  AUTHORS   Lutfalla G, Gardiner K, Proudhon D, Vielh E and Uze G.
  TITLE     The structure of the human interferon alpha/beta receptor gene
  JOURNAL   J Biol Chem 267 (4), 2802-2809 (1992)
   PUBMED   1370833
REFERENCE   8  (residues 1 to 434)
  AUTHORS   Flores I, Mariano TM and Pestka S.
  TITLE     Human interferon omega (omega) binds to the alpha/beta receptor
  JOURNAL   J Biol Chem 266 (30), 19875-19877 (1991)
   PUBMED   1834641
REFERENCE   9  (residues 1 to 434)
  AUTHORS   Lutfalla G, Roeckel N, Mogensen KE, Mattei MG and Uze G.
  TITLE     Assignment of the human interferon-alpha receptor gene to
            chromosome 21q22.1 by in situ hybridization
  JOURNAL   J Interferon Res 10 (5), 515-517 (1990)
   PUBMED   2148760
REFERENCE   10 (residues 1 to 434)
  AUTHORS   Uze G, Lutfalla G and Gresser I.
  TITLE     Genetic transfer of a functional human interferon alpha receptor
            into mouse cells: cloning and expression of its cDNA
  JOURNAL   Cell 60 (2), 225-234 (1990)
   PUBMED   2153461
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000296.1, AP000297.2 and
            AP000298.1.
            
            Summary: The protein encoded by this gene is a type I membrane
            protein that forms one of the two chains of a receptor for
            interferons alpha and beta. Binding and activation of the receptor
            stimulates Janus protein kinases, which in turn phosphorylate
            several proteins, including STAT1 and STAT2. The protein belongs to
            the type II cytokine receptor family and functions as an antiviral
            factor. [provided by RefSeq, Jul 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in immune response or antiviral
                                   activity
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     Protein         1..434
                     /product="interferon alpha/beta receptor 1 isoform 3
                     precursor"
                     /note="alpha-type antiviral protein; beta-type antiviral
                     protein; interferon-beta receptor 1; interferon-alpha/beta
                     receptor alpha chain; interferon alpha/beta receptor 1;
                     CRF2-1; IFN-R-1; IFN-alpha/beta receptor 1; type I
                     interferon receptor 1; cytokine receptor class-II member
                     1; cytokine receptor family 2 member 1; interferon (alpha,
                     beta and omega) receptor 1; IFNalpha/beta receptor 1"
                     /calculated_mol_wt=47059
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2554
     Region          20..114
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cl21522"
                     /db_xref="CDD:451288"
     Site            50
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17181.3)"
     Site            58
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P17181.3)"
     Site            81
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17181.3)"
     Site            88
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17181.3)"
     Site            110
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P17181.3)"
     Region          126..224
                     /region_name="Interfer-bind"
                     /note="Interferon-alpha/beta receptor, fibronectin type
                     III; pfam09294"
                     /db_xref="CDD:430508"
     Site            172
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21854986,
                     ECO:0007744|PDB:3S98; propagated from UniProtKB/Swiss-Prot
                     (P17181.3)"
     Region          228..318
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cl21522"
                     /db_xref="CDD:451288"
     Site            254
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17181.3)"
     Site            313
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P17181.3)"
     Site            314
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17181.3)"
     Region          334..430
                     /region_name="Interfer-bind"
                     /note="Interferon-alpha/beta receptor, fibronectin type
                     III; pfam09294"
                     /db_xref="CDD:430508"
     Site            376
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17181.3)"
     Site            416
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17181.3)"
     CDS             1..434
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /coded_by="NM_001384499.1:87..1391"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="GeneID:3454"
                     /db_xref="HGNC:HGNC:5432"
                     /db_xref="MIM:107450"
ORIGIN      
        1 mmvvllgatt lvlvavapwv lsaaaggknl kspqkvevdi iddnfilrwn rsdesvgnvt
       61 fsfdyqktgm dnwiklsgcq nitstkcnfs slklnvyeei klriraeken tsswyevdsf
      121 tpfrkaqigp pevhleaedk aivihispgt kdsvmwaldg lsftyslviw knssgveeri
      181 eniysrhkiy klspettycl kvkaalltsw kigvyspvhc ikttvenelp ppenievsvq
      241 nqnyvlkwdy tyanmtfqvq wlhaflkrnp gnhlykwkqi pdcenvkttq cvfpqnvfqk
      301 giyllrvqas dgnntsfwse eikfdteiqa fllppvfnir slsdsfhiyi gapkqsgntp
      361 viqdypliye iifwentsna erkiiekktd vtvpnlkplt vycvkaraht mdeklnkssv
      421 fsdavcektk pvfl
//
LOCUS       NP_001124186             386 aa            linear   PRI 19-MAR-2023
DEFINITION  lymphoid enhancer-binding factor 1 isoform 3 [Homo sapiens].
ACCESSION   NP_001124186
VERSION     NP_001124186.1
DBSOURCE    REFSEQ: accession NM_001130714.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 386)
  AUTHORS   Perrin C, Pedeutour F, Coutts M, Ambrosetti D and Dadone-Montaudie
            B.
  TITLE     Onychomatricoma: a clinicopathological, immunohistochemical, and
            molecular study of 10 cases highlighting recurrent RB1 deletion and
            the potential diagnostic value of LEF-1
  JOURNAL   Histopathology 82 (5), 767-778 (2023)
   PUBMED   36647795
  REMARK    GeneRIF: Onychomatricoma: a clinicopathological,
            immunohistochemical, and molecular study of 10 cases highlighting
            recurrent RB1 deletion and the potential diagnostic value of LEF-1.
REFERENCE   2  (residues 1 to 386)
  AUTHORS   Zhou X, Li X, Wang R, Hua D, Sun C, Yu L, Shi C, Luo W, Jiang Z, An
            W, Wang Q and Yu S.
  TITLE     Recruitment of LEF1 by Pontin chromatin modifier amplifies TGFBR2
            transcription and activates TGFbeta/SMAD signalling during
            gliomagenesis
  JOURNAL   Cell Death Dis 13 (9), 818 (2022)
   PUBMED   36153326
  REMARK    GeneRIF: Recruitment of LEF1 by Pontin chromatin modifier amplifies
            TGFBR2 transcription and activates TGFbeta/SMAD signalling during
            gliomagenesis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 386)
  AUTHORS   Dolezal D, Zhang X and Harigopal M.
  TITLE     Increased Expression of LEF1 and beta-Catenin in Invasive
            Micropapillary Carcinoma of the Breast is Associated With
            Lymphovascular Invasion and Lymph Node Metastasis
  JOURNAL   Appl Immunohistochem Mol Morphol 30 (8), 557-565 (2022)
   PUBMED   35960138
  REMARK    GeneRIF: Increased Expression of LEF1 and beta-Catenin in Invasive
            Micropapillary Carcinoma of the Breast is Associated With
            Lymphovascular Invasion and Lymph Node Metastasis.
REFERENCE   4  (residues 1 to 386)
  AUTHORS   Yang M, Huang X, Shen F, Yi J, Meng Y and Chen Y.
  TITLE     Lef1 is transcriptionally activated by Klf4 and suppresses
            hyperoxia-induced alveolar epithelial cell injury
  JOURNAL   Exp Lung Res 48 (7-8), 213-223 (2022)
   PUBMED   35950640
  REMARK    GeneRIF: Lef1 is transcriptionally activated by Klf4 and suppresses
            hyperoxia-induced alveolar epithelial cell injury.
REFERENCE   5  (residues 1 to 386)
  AUTHORS   Guo R, Dai H, Liu F, Liu M, Li X, Li T, Liao J, Chen ZS, Liu Y and
            Fang S.
  TITLE     The Prognostic and Drug-targeting Value of Lymphoid
            Enhancer-binding Factor-1 in Hepatocellular Carcinoma
  JOURNAL   Recent Pat Anticancer Drug Discov 18 (2), 211-223 (2022)
   PUBMED   36045537
  REMARK    GeneRIF: The Prognostic and Drug-targeting Value of Lymphoid
            Enhancer-binding Factor-1 in Hepatocellular Carcinoma.
REFERENCE   6  (residues 1 to 386)
  AUTHORS   Hovanes K, Li TW and Waterman ML.
  TITLE     The human LEF-1 gene contains a promoter preferentially active in
            lymphocytes and encodes multiple isoforms derived from alternative
            splicing
  JOURNAL   Nucleic Acids Res 28 (9), 1994-2003 (2000)
   PUBMED   10756202
REFERENCE   7  (residues 1 to 386)
  AUTHORS   Zhou P, Byrne C, Jacobs J and Fuchs E.
  TITLE     Lymphoid enhancer factor 1 directs hair follicle patterning and
            epithelial cell fate
  JOURNAL   Genes Dev 9 (6), 700-713 (1995)
   PUBMED   7537238
REFERENCE   8  (residues 1 to 386)
  AUTHORS   Milatovich A, Travis A, Grosschedl R and Francke U.
  TITLE     Gene for lymphoid enhancer-binding factor 1 (LEF1) mapped to human
            chromosome 4 (q23-q25) and mouse chromosome 3 near Egf
  JOURNAL   Genomics 11 (4), 1040-1048 (1991)
   PUBMED   1783375
REFERENCE   9  (residues 1 to 386)
  AUTHORS   Travis A, Amsterdam A, Belanger C and Grosschedl R.
  TITLE     LEF-1, a gene encoding a lymphoid-specific protein with an HMG
            domain, regulates T-cell receptor alpha enhancer function
            [corrected]
  JOURNAL   Genes Dev 5 (5), 880-894 (1991)
   PUBMED   1827423
  REMARK    Erratum:[Genes Dev 1991 Jun;5(6):following 1113]
REFERENCE   10 (residues 1 to 386)
  AUTHORS   Waterman ML, Fischer WH and Jones KA.
  TITLE     A thymus-specific member of the HMG protein family regulates the
            human T cell receptor C alpha enhancer
  JOURNAL   Genes Dev 5 (4), 656-669 (1991)
   PUBMED   2010090
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC097067.3, AK225772.1,
            BC040559.1, AL049409.1 and AF288571.1.
            
            Summary: This gene encodes a transcription factor belonging to a
            family of proteins that share homology with the high mobility group
            protein-1. The protein encoded by this gene can bind to a
            functionally important site in the T-cell receptor-alpha enhancer,
            thereby conferring maximal enhancer activity. This transcription
            factor is involved in the Wnt signaling pathway, and it may
            function in hair cell differentiation and follicle morphogenesis.
            Mutations in this gene have been found in somatic sebaceous tumors.
            This gene has also been linked to other cancers, including
            androgen-independent prostate cancer. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (3) lacks both an in-frame exon in
            the central coding region and an exon in the 3' coding region that
            causes a frameshift, compared to variant 1. The encoded isoform (3)
            has a distinct C-terminus and is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC040559.1, SRR14038195.40751.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..386
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     Protein         1..386
                     /product="lymphoid enhancer-binding factor 1 isoform 3"
                     /note="T cell-specific transcription factor 1-alpha;
                     TCF1-alpha"
                     /calculated_mol_wt=42545
     Region          16..213
                     /region_name="CTNNB1_binding"
                     /note="N-terminal CTNNB1 binding; pfam08347"
                     /db_xref="CDD:429937"
     Region          270..354
                     /region_name="HMG-box_TCF7-like"
                     /note="high mobility group (HMG)-box found in the
                     transcription factor 7 (TCF-7)-like family; cd21996"
                     /db_xref="CDD:438812"
     Site            order(270,272..279,282..283,286,296..299,302..303,306,321,
                     325,328,339..354)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438812"
     CDS             1..386
                     /gene="LEF1"
                     /gene_synonym="LEF-1; TCF10; TCF1ALPHA; TCF7L3"
                     /coded_by="NM_001130714.3:1166..2326"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS47122.1"
                     /db_xref="GeneID:51176"
                     /db_xref="HGNC:HGNC:6551"
                     /db_xref="MIM:153245"
ORIGIN      
        1 mpqlsggggg gggdpelcat demipfkdeg dpqkekifae ishpeeegdl adiksslvne
       61 seiipasngh evarqaqtsq epyhdkareh pddgkhpdgg lynkgpsyss ysgyimmpnm
      121 nndpymsngs lsppiprtsn kvpvvqpsha vhpltplity sdehfspgsh pshipsdvns
      181 kqgmsrhppa pdiptfypls pggvgqitpp lgwfshhmip gppgphttgi phpaivtpqv
      241 kqehphtdsd lmhvkpqheq rkeqepkrph ikkplnafml ymkemranvv aectlkesaa
      301 inqilgrrwh alsreeqaky yelarkerql hmqlypgwsa rdnygkkkkr kreklqesas
      361 ggkrssfptc kakaatpgpl lemeac
//
LOCUS       XP_047304473             326 aa            linear   PRI 20-MAR-2023
DEFINITION  Fanconi anemia core complex-associated protein 20 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047304473
VERSION     XP_047304473.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448517.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..326
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..326
                     /product="Fanconi anemia core complex-associated protein
                     20 isoform X2"
                     /calculated_mol_wt=35740
     Region          176..270
                     /region_name="FANCA_interact"
                     /note="FAAP20 FANCA interaction domain; pfam15751"
                     /db_xref="CDD:434907"
     Region          275..>288
                     /region_name="UBZ_FAAP20"
                     /note="Ubiquitin-binding zinc-finger; pfam15750"
                     /db_xref="CDD:434906"
     CDS             1..326
                     /gene="FAAP20"
                     /gene_synonym="C1orf86; FP7162"
                     /coded_by="XM_047448517.1:362..1342"
                     /db_xref="GeneID:199990"
                     /db_xref="HGNC:HGNC:26428"
                     /db_xref="MIM:615183"
ORIGIN      
        1 mspsigldtd klgqdagwqr pgelghslqk geidhcclst drpqtqlhpg vllrnvgpap
       61 appqgqrgrr wmepphgssv kvctslrklk qtkqgwspqf tagctgdaps tvsydkwkpv
      121 rhssrwlrrs gafssgstlk pppspspapl chadnlrtgr trpsggrpwf llggdererl
      181 waellrtvsp elildheepr cgpeptevft vgpktfswtp fppdlwgpgr syrllhgagg
      241 hlesparslp qrpapdpcra prveqqpsve gaaalrscpm cqkefaprsk nssgmrrhrs
      301 pklaannnnn krkgrarwlt pvipal
//
LOCUS       XP_047275588            1009 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of G-protein signaling protein-like isoform X4 [Homo
            sapiens].
ACCESSION   XP_047275588
VERSION     XP_047275588.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419632.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1009
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1009
                     /product="regulator of G-protein signaling protein-like
                     isoform X4"
                     /calculated_mol_wt=117928
     Region          583..762
                     /region_name="RGS-like_2"
                     /note="Uncharacterized Regulator of G protein Signaling
                     (RGS) domain subfamily, child 2; cd08728"
                     /db_xref="CDD:188683"
     Region          809..913
                     /region_name="RGS"
                     /note="Regulator of G protein signaling (RGS) domain
                     superfamily; cl02565"
                     /db_xref="CDD:445834"
     CDS             1..1009
                     /gene="RGSL1"
                     /gene_synonym="RGSL; RGSL2"
                     /coded_by="XM_047419632.1:229..3258"
                     /db_xref="GeneID:353299"
                     /db_xref="HGNC:HGNC:18636"
                     /db_xref="MIM:611012"
ORIGIN      
        1 mmrwkkadqw llqkciggvr gmwrfysylt gsageelvdf wilaenilsi demdlevrdy
       61 ylslllmlra thlqegsrvv tlcnmniksl lnlsiwhpnq sttrreilsh mqkvalfklq
      121 sywlpnfyth tkmtmakeea chglmqeyet rlysvcythi gglplnmsik kchhfqkrys
      181 srkakrkmwq lvdpdswsle mdlkpdaigm plqetcpqek vviqmpslkm assketriss
      241 lekdmhyaki ssmenkaksh lhmeapfetk vsthlrtvip ivnhsskmti qkaikqsfsl
      301 gyihlalcad acagnpfrdh lkklnlkvei qlldlwqdlq hflsvllnnk kngnaifrhl
      361 lgdricelyl neqigpclpl ksqtiqglke llpsgdvipw ipkaqkeick mlspwydefl
      421 deedywfllf ttqnrfissr qhkrefigke enillykriq qslelsqala dmkemdyrqw
      481 rkiatedlkq ggslqvelts pvfltditkm sfeelcyknp kmaiqkisdd ykiycekapk
      541 idfkmeiike tktvsrsnrk msllkrtlvr kpsmrprnlt evllntqhle ffreflkerk
      601 akiplqflta vqkisietne kickslienv iktffqgqls peemlqcdap iikeiasmrh
      661 vttstlltlq ghvmksieek wfkdyqdlfp phhqevevqs evqissrkps kivstylqes
      721 qkkgwmrmis firsfckyrr fmlnpskrqe fedylhqemq nskenfttah ntsgrsapps
      781 tnvrsadqen geitlvkrri fghriitvnf aindlyffse mekfndlvss ahmlqvnray
      841 nendvilmrs kmniiqklfl nsdippklrv nvpefqkdai laaitegyld rsvfhgaims
      901 vfpvvmyfwk rfcfwkatrs ylqyrgkkfk drksppkstd kypfssggdn ailrftllrg
      961 iewlqpqrea issvqnssss kltqprlvvs amqlhpvqgq klsyikkek
//
LOCUS       XP_047282448            1809 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase F isoform X13 [Homo
            sapiens].
ACCESSION   XP_047282448
VERSION     XP_047282448.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426492.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1809
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1809
                     /product="receptor-type tyrosine-protein phosphatase F
                     isoform X13"
                     /calculated_mol_wt=202094
     Region          33..124
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          50..54
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          63..67
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          86..93
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          104..109
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          117..120
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          136..226
                     /region_name="IgI_2_RPTP_IIa_LAR_like"
                     /note="Second immunoglobulin (Ig)-like domain of the
                     receptor protein tyrosine phosphatase (RPTP)-F; member of
                     the I-set of IgSF domains; cd05738"
                     /db_xref="CDD:409400"
     Region          136..138
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409400"
     Region          143..147
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409400"
     Region          150..159
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409400"
     Region          164..170
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409400"
     Region          172..174
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409400"
     Region          183..187
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409400"
     Region          190..195
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409400"
     Region          204..211
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409400"
     Region          214..225
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409400"
     Region          239..320
                     /region_name="IgI_3_RPTP_IIa_LAR_like"
                     /note="Third immunoglobulin (Ig)-like domain of the
                     receptor protein tyrosine phosphatase (RPTP)-F (also known
                     as LAR), type IIa; member of the I-set of IgSF domains;
                     cd05739"
                     /db_xref="CDD:409401"
     Region          239..241
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409401"
     Region          245..249
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409401"
     Region          252..260
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409401"
     Region          265..271
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409401"
     Region          273..275
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409401"
     Region          278..282
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409401"
     Region          287..292
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409401"
     Region          299..306
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409401"
     Region          310..319
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409401"
     Region          323..412
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(323,385,400)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(401..402,404..405)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          419..511
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(500..501,503..504)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          516..605
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(516,578,593)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(594..595,597..598)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          612..718
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(707..708,710..711)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          723..812
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(723,786,801)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(802..803,805..806)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          821..909
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(898..899,901..902)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          918..>977
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Region          1237..1512
                     /region_name="R-PTPc-F-1"
                     /note="catalytic domain of receptor-type tyrosine-protein
                     phosphatase F, repeat 1; cd14626"
                     /db_xref="CDD:350474"
     Region          1514..1804
                     /region_name="R-PTP-F-2"
                     /note="PTP-like domain of receptor-type tyrosine-protein
                     phosphatase F, repeat 2; cd14629"
                     /db_xref="CDD:350477"
     CDS             1..1809
                     /gene="PTPRF"
                     /gene_synonym="BNAH2; LAR"
                     /coded_by="XM_047426492.1:334..5763"
                     /db_xref="GeneID:5792"
                     /db_xref="HGNC:HGNC:9670"
                     /db_xref="MIM:179590"
ORIGIN      
        1 mapepapgrt mvplvpalvm lglvagahgd skpvfikvpe dqtglsggva sfvcqatgep
       61 kpritwmkkg kkvssqrfev iefddgagsv lriqplrvqr deaiyectat nslgeintsa
      121 klsvleeeql ppgfpsidmg pqlkvvekar tatmlcaagg npdpeiswfk dflpvdpats
      181 ngrikqlrsg alqiessees dqgkyecvat nsagtrysap anlyvrdqre vrrvaprfsi
      241 ppssqevmpg gsvnltcvav gapmpyvkwm mgaeeltked empvgrnvle lsnvvrsany
      301 tcvaisslgm ieataqvtvk alpkppidlv vtettatsvt ltwdsgnsep vtyygiqyra
      361 agtegpfqev dgvattrysi gglspfseya frvlavnsig rgppseavra rtgeqapssp
      421 prrvqarmls astmlvqwep peepnglvrg yrvyytpdsr rppnawhkhn tdagllttvg
      481 sllpgitysl rvlaftavgd gppsptiqvk tqqgvpaqpa dfqaevesdt riqlswllpp
      541 qeriimyelv ywaaededqq hkvtfdptss ytledlkpdt lyrfqlaars dmgvgvftpt
      601 ieartaqsmp sgpprkveve plnstavhvy wklpvpskqh gqirgyqvty vrlengeprg
      661 lpiiqdvmla eaqwrpeese dyettisglt pettysvtva ayttkgdgar skpkivtttg
      721 avpgrptmmi sttamntall qwhppkelpg ellgyrlqyc radearpnti dfgkddqhft
      781 vtglhkgtty ifrlaaknra glgeefekei rtpedlpsgf pqnlhvtglt tsttelawdp
      841 pvlaerngri isytvvfrdi nsqqelqnit tdtrftltgl kpdttydikv rawtskgsgp
      901 lspsiqsrtm pveqvfaknf rvaaamktsv llswevpdsy ksavpfkily ngqsvevdgh
      961 smrkliadlq pnteysfvlm nrgssagglq hlvsirtapd llphkplpas ayiedgrfdl
     1021 smphvqdpsl vrwfyivvvp idrvggsmlt prwstpeele ldelleaieq ggeeqrrrrr
     1081 qaerlkpyva aqldvlpetf tlgdkknyrg fynrplspdl syqcfvlasl kepmdqkrya
     1141 sspysdeivv qvtpaqqqee pemlwvtgpv laviliiliv iaillfkrkr thspsskdeq
     1201 siglkdslla hssdpvemrr lnyqtpgmrd hppipitdla dnierlkand glkfsqeyes
     1261 idpgqqftwe nsnlevnkpk nryanviayd hsrviltsid gvpgsdyina nyidgyrkqn
     1321 ayiatqgplp etmgdfwrmv weqrtatvvm mtrleeksrv kcdqywparg tetcgliqvt
     1381 lldtvelaty tvrtfalhks gssekrelrq fqfmawpdhg vpeyptpila flrrvkacnp
     1441 ldagpmvvhc sagvgrtgcf ividamlerm khektvdiyg hvtcmrsqrn ymvqtedqyv
     1501 fihealleaa tcghtevpar nlyahiqklg qvppgesvta melefkllas skahtsrfis
     1561 anlpcnkfkn rlvnimpyel trvclqpirg vegsdyinas fldgyrqqka yiatqgplae
     1621 stedfwrmlw ehnstiivml tklremgrek chqywpaers aryqyfvvdp maeynmpqyi
     1681 lrefkvtdar dgqsrtirqf qftdwpeqgv pktgegfidf igqvhktkeq fgqdgpitvh
     1741 csagvgrtgv fitlsivler mryegvvdmf qtvktlrtqr pamvqtedqy qlcyraaley
     1801 lgsfdhyat
//
LOCUS       XP_047283993             355 aa            linear   PRI 20-MAR-2023
DEFINITION  S100P-binding protein isoform X3 [Homo sapiens].
ACCESSION   XP_047283993
VERSION     XP_047283993.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428037.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..355
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..355
                     /product="S100P-binding protein isoform X3"
                     /calculated_mol_wt=38773
     Region          22..342
                     /region_name="S100PBPR"
                     /note="S100P-binding protein; pfam15427"
                     /db_xref="CDD:434708"
     CDS             1..355
                     /gene="S100PBP"
                     /gene_synonym="S100PBPR"
                     /coded_by="XM_047428037.1:157..1224"
                     /db_xref="GeneID:64766"
                     /db_xref="HGNC:HGNC:25768"
                     /db_xref="MIM:611889"
ORIGIN      
        1 mmcsrvpseq ssgtsllpkd gapfswdsld edglddslle lsegeeddgd vnyteeeida
       61 llkeddpsye qssgeddggh vekgergsqi lldtprekns syslgpvaet pdlfklpqls
      121 tssghgpaht kplnrrsvle knlikvtvap fnptvcdall dkdetdsskd teklsslgee
      181 mredglspne sklctesegi spnnsawngp qlsssnnnfq qtvsdknmpd senptsvfsr
      241 isdhsetpnm elscrnggsh ksscemrslv vstssnkqdv lnkdsgkmkg herrlgkvip
      301 vlqtktrtnv ptfsqsnleq qkqlylrsvi ahiedpedtn qgksvkistr ssqfc
//
LOCUS       XP_047288446             500 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-dependent lysophosphatidylcholine symporter 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_047288446
VERSION     XP_047288446.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432490.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..500
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..500
                     /product="sodium-dependent lysophosphatidylcholine
                     symporter 1 isoform X1"
                     /calculated_mol_wt=55086
     Region          44..466
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     Site            order(54..55,58..59,62,95,156..157,159..161,164,185,
                     188..189,192,299,302..303,306..308,311,364..365,369,373,
                     398,401..402,405..406,409)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:349949"
     CDS             1..500
                     /gene="MFSD2A"
                     /gene_synonym="HsMFSD2A; MCPH15; MFSD2; NEDMISBA; NLS1;
                     SLC59A1"
                     /coded_by="XM_047432490.1:149..1651"
                     /db_xref="GeneID:84879"
                     /db_xref="HGNC:HGNC:25897"
                     /db_xref="MIM:614397"
ORIGIN      
        1 makgegaesg saagllptsi lqsterpaqk epkkkkqqls vcnklcyalg gapyqvtgca
       61 lgfflqiyll dvaqvgpfsa siilfvgraw daitdplvgl ciskspwtcl grlmpwiifs
      121 tplaviayfl iwfvpdfphg qtywyllfyc lfetmvtcfh vpysaltmfi steqterdsa
      181 tayrmtvevl gtvlgtaiqg qivgqadtpc fqdlnsstva sqsanhthgt tshretqkay
      241 llaagvivci yiicavilil gvreqrepye aqqsepiayf rglrlvmshg pyiklitgfl
      301 ftslafmlve gnfvlfctyt lgfrnefqnl llaimsavpf lilvalmesn liityavava
      361 agisvaaafl lpwsmlpdvi ddfhlkqphf hgtepiffsf yvfftkfasg vslgistlsl
      421 dfagyqtrgc sqpervkftl nmlvtmapiv lillglllfk mypideerrr qnkkalqalr
      481 deasssgcse tdstelasil
//
LOCUS       XP_047289415            1195 aa            linear   PRI 20-MAR-2023
DEFINITION  period circadian protein homolog 3 isoform X13 [Homo sapiens].
ACCESSION   XP_047289415
VERSION     XP_047289415.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433459.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1195
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1195
                     /product="period circadian protein homolog 3 isoform X13"
                     /calculated_mol_wt=131262
     Region          285..377
                     /region_name="PAS"
                     /note="PAS domain; PAS motifs appear in archaea,
                     eubacteria and eukarya. Probably the most surprising
                     identification of a PAS domain was that in EAG-like
                     K+-channels. PAS domains have been found to bind ligands,
                     and to act as sensors for light and oxygen in...; cd00130"
                     /db_xref="CDD:238075"
     Site            order(288,292,298,311..314,343,348)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238075"
     Site            order(308,312,320,323..324,355,357)
                     /site_type="other"
                     /note="heme pocket [chemical binding]"
                     /db_xref="CDD:238075"
     Region          <749..1058
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          <1075..1176
                     /region_name="Period_C"
                     /note="Period protein 2/3C-terminal region; pfam12114"
                     /db_xref="CDD:432341"
     CDS             1..1195
                     /gene="PER3"
                     /gene_synonym="FASPS3; GIG13"
                     /coded_by="XM_047433459.1:588..4175"
                     /db_xref="GeneID:8863"
                     /db_xref="HGNC:HGNC:8847"
                     /db_xref="MIM:603427"
ORIGIN      
        1 mprgeapgpg rrgakdealg eesgerwspe fhlqrklads shseqqdrnr vseelimvvq
       61 emkkyfpser rnkpstldal nyalrcvhsv qanseffqil sqngapqadv smysleelat
      121 iasehtsknt dtfvavfsfl sgrlvhiseq aalilnrkkd vlasshfvdl lapqdmrvfy
      181 ahtaraqlpf wnnwtqraaa ryecapvkpf fcrirggedr kqekchspfr iipylihvhh
      241 paqpelesep ccltvvekih sgyeapripv nkriftttht pgcvflevde kavpllgylp
      301 qdligtsils ylhpedrslm vaihqkvlky aghppfehsp irfctqngdy iildsswssf
      361 vnpwsrkisf iigrhkvrts plnedvfatk ikkmndndkd itelqeqiyk lllqpvhvsv
      421 ssgygslgss gsqeqlvsia ssseasghrv eetkaeqmtl qqvyasvnki knlgqqlyie
      481 smtkssfkpv tgtrtepngg gecktftsfh qtlknnsvyt epcedlrnde hspsyqqinc
      541 idsvirylks ynipalkrkc isctnttsss seedkqnhka ddvqalqagl qipaipksem
      601 ptngrsidtg ggapqilsta mlslgsgisq cgysstivhv pppetardat lfcepwtlnm
      661 qpapltseef khvgltaavl sahtqkeeqn yvdkfrekil sspyssylqq esrskakysy
      721 fqgdstskqt rsagcrkgkh krkklpeppd ssssntgsgp rrgahqnaqp ccpsaassph
      781 tssptfppaa mvpsqapylv pafplpaats pgreyaapgt apeglhglpl seglqpypaf
      841 pfpyldtfmt vflpdppvcp llspsflpcp flgatassai spsmssamsp tldpppsvts
      901 qrreeekwea qseghpfits rsssplqlnl lqeemprpse spdqmrrntc pqteycvtgn
      961 ngsesspatt galstgsppr enpshptasa lstgsppmkn pshptasals tgsppmknps
     1021 hptastlsmg lppsrtpshp tatvlstgsp psespsrtgs aasgssdssi yltssvyssk
     1081 isqngqqsqd vqkketfpnv aeepiwrmir qtperilmty qvpervkevv lkedlekles
     1141 mrqqqpqfsh gqkeelakvy nwiqsqtvtq eidiqvtlts snspalfffg glchl
//
LOCUS       XP_016871182             649 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-1(XIII) chain isoform X22 [Homo sapiens].
ACCESSION   XP_016871182
VERSION     XP_016871182.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017015693.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..649
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..649
                     /product="collagen alpha-1(XIII) chain isoform X22"
                     /calculated_mol_wt=63208
     Region          <301..>490
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <405..>642
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     CDS             1..649
                     /gene="COL13A1"
                     /gene_synonym="CMS19; COLXIIIA1"
                     /coded_by="XM_017015693.3:519..2468"
                     /db_xref="GeneID:1305"
                     /db_xref="HGNC:HGNC:2190"
                     /db_xref="MIM:120350"
ORIGIN      
        1 mvaerthkaa atgargpgel gapgtvalva araergarlp spgscglltl alcslalsll
       61 ahfrtaelqa rvlrleaerg eqqmetailg rvnqlldekw klhsrrrrea pktspgcncp
      121 pgppgptgrp glpgdkgaig mpgrvgvkgq pgekgspgda glsiigprgp pgqpgtrgfp
      181 gfpgpigldg kpghpgpkgd mgltgppgqp gpqgqkgekg qcgeyphrll pllnsvrlap
      241 ppvikrrtfq geqsqasiqg ppgppgppgp sgplghpglp gpmgppglpg ppgpkgdpgi
      301 qgyhgrkger gmpgmpgkhg akgapgiava gmkgepgipg tkgekgaegs pglpgllgqk
      361 gekgdagnsi gggrgepgpp glpgppgpkg eagvdgqvgp pgqpgdkger gaageqgpdg
      421 pkgskgepgk gemvdyngni nealqeirtl almgppglpg qigppgapgi pgqkgeiglp
      481 gppghdgekg prgkpgdmgp pgpqgppgkd gppgvkgeng hpgspgekge kgetgqagsp
      541 glqgvpgpkg eagldgakge kgfqgekgdr gplglpgasg ldgrpgppgt pgpigvpgpa
      601 gpkgergskg dpgmtgptga aglpglhgpp gdkgnrgedg lpvqgcwnk
//
LOCUS       XP_047281481            1102 aa            linear   PRI 20-MAR-2023
DEFINITION  sickle tail protein homolog isoform X33 [Homo sapiens].
ACCESSION   XP_047281481
VERSION     XP_047281481.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425525.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1102
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1102
                     /product="sickle tail protein homolog isoform X33"
                     /calculated_mol_wt=119143
     CDS             1..1102
                     /gene="KIAA1217"
                     /gene_synonym="ETL4; SKT"
                     /coded_by="XM_047425525.1:261..3569"
                     /db_xref="GeneID:56243"
                     /db_xref="HGNC:HGNC:25428"
                     /db_xref="MIM:617367"
ORIGIN      
        1 mqrelvyarg dgpgaprpgs tahpphaipn sppstpvphs mppspsripy ggtrsmvvpg
       61 natiprdris slpvsrpisp spsailerrd vkpdedmsgk niamyrnegf yadpylyheg
      121 rmsiasshgg hpldvpdhii ayhrtairsa saycnpsmqa emhmeqslyr qksrkypdsh
      181 lptlgsktpp asphrvsdlr midmhahyna hgpphtmqpd raspsrqafk kepgtlvyie
      241 kprsaaglss lvdlgpplme kqvfaystat ipkdretrer mqamekqias ltglvqsalf
      301 kgpitsyskd assekmmktt anrnhtdsag tphvsggkml salestvpps qpppvgtsai
      361 hmsllemrrs vaelrlqlqq mrqlqlqnqe llrammkkae leisgkvmet mkrledpvqr
      421 qrvlveqerq kylheeekiv kklceledfv edlkkdstaa srlvtlkdve dgafllrqvg
      481 eavatlkgef ptlqnkmrai lrieveavrf lkeephklds llkrvrsmtd vltmlrrhvt
      541 dgllkgtdaa qaaqymamek ataaevlksq eeaahtsgqp fhstgapgda ksevvplsgm
      601 mvrhaqsspv viqpsqhsva llnpaqnlph vasspavpqe atstlqmsqa pqspqipmng
      661 samqslfiee ihsvsaknra vsiekaekkw eekrqnldhy ngkefeklle eaqanimksi
      721 pnlemppatg plprgdapvd kvelsedspn seqdleklgg kspppppppp rrsylpgsgl
      781 tttrsgdvvy tgrkenitak assedagpsp qtratkypae epasawtpsp ppvttssskd
      841 eeeeeeegdk imaelqafqk csfmdvnsns haepsradsh vkdtrsgatv ppkekkgssg
      901 apqtsrmpvp msaknrpgtl dkpgkqsklq dprqyrqang sakksggdfk ptspslpask
      961 ipalspssgk ssslpsssgd ssnlpnppat kpsiasnpls pqtgppahsa slipsvsngs
     1021 lkfqslthtg kghhlsfspq sqngrapppl sfsssppspa ssvslnqgak gtrtihtpsl
     1081 tsykaqngss skatpstake ts
//
LOCUS       XP_047282485             736 aa            linear   PRI 20-MAR-2023
DEFINITION  exostosin-2 isoform X2 [Homo sapiens].
ACCESSION   XP_047282485
VERSION     XP_047282485.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426529.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..736
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..736
                     /product="exostosin-2 isoform X2"
                     /calculated_mol_wt=84269
     Region          118..398
                     /region_name="Exostosin"
                     /note="Exostosin family; pfam03016"
                     /db_xref="CDD:397245"
     Region          474..715
                     /region_name="Glyco_transf_64"
                     /note="Glycosyl transferase family 64 domain; pfam09258"
                     /db_xref="CDD:430488"
     CDS             1..736
                     /gene="EXT2"
                     /gene_synonym="SOTV; SSMS"
                     /coded_by="XM_047426529.1:358..2568"
                     /db_xref="GeneID:2132"
                     /db_xref="HGNC:HGNC:3513"
                     /db_xref="MIM:608210"
ORIGIN      
        1 markpyhrec eeeavcvimc asvkynirgp aliprmktkh riyyitlfsi vllgliatgm
       61 fqfwphsies sndwnvekrs irdvpvvrlp adspipergd lscrmhtcfd vyrcgfnpkn
      121 kikvyiyalk kyvddfgvsv sntisreyne llmaisdsdy ytddinracl fvpsidvlnq
      181 ntlriketaq amaqlsrwdr gtnhllfnml pggppdynta ldvprdrall agggfstwty
      241 rqgydvsipv ysplsaevdl pekgpgprqy fllssqvglh peyredleal qvkhgesvlv
      301 ldkctnlseg vlsvrkrchk hqvfdypqvl qeatfcvvlr garlgqavls dvlqagcvpv
      361 viadsyilpf sevldwkras vvvpeekmsd vysilqsipq rqieemqrqa rwfweayfqs
      421 ikaialatlq iindriypya aisyeewndp pavkwgsvsn plflplippq sqgftaivlt
      481 ydrveslfrv itevskvpsl skllvvwnnq nknppedslw pkirvplkvv rtaenklsnr
      541 ffpydeiete avlaidddii mltsdelqfg yevwrefpdr lvgypgrlhl wdhemnkwky
      601 esewtnevsm vltgaafyhk yfnylytykm pgdiknwvda hmncediamn flvanvtgka
      661 vikvtprkkf kcpectaidg lsldqthmve rsecinkfas vfgtmplkvv ehradpvlyk
      721 ddfpeklksf pnigsl
//
LOCUS       XP_047282552            1406 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 164 kDa isoform X36 [Homo sapiens].
ACCESSION   XP_047282552
VERSION     XP_047282552.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426596.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1406
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1406
                     /product="centrosomal protein of 164 kDa isoform X36"
                     /calculated_mol_wt=158310
     Region          59..89
                     /region_name="WW"
                     /note="Two conserved tryptophans domain; also known as the
                     WWP or rsp5 domain; around 40 amino acids; functions as an
                     interaction module in a diverse set of signalling
                     proteins; binds specific proline-rich sequences but at low
                     affinities compared to other...; cd00201"
                     /db_xref="CDD:238122"
     Site            order(73,84)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          <447..999
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          849..>1166
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..1406
                     /gene="CEP164"
                     /gene_synonym="NPHP15"
                     /coded_by="XM_047426596.1:453..4673"
                     /db_xref="GeneID:22897"
                     /db_xref="HGNC:HGNC:29182"
                     /db_xref="MIM:614848"
ORIGIN      
        1 magrplrigd qlvleedyde tyipseqeil efareigidp ikepelmwla regivaplpg
       61 ewkpcqditg diyyfnfang qsmwdhpcde hyrslviqer aklstsgaik kkkkkkekkd
      121 kkdrdppkss lalgsslapv hvplgglapl rglvdtppsa lrgsqsvslg ssvesgrqlg
      181 elmlpsqglk tsaytkgllg siyedktals llglgeetne edeeesdnqs vhssseplrn
      241 lhldigalgg dfeyeeslrt sqpeekkdvs ldsdaagppt pckpsspgad sslssavgkg
      301 rqgsgarpgl pekeenekse pkicrnlvtp kadptgsepa kasekeaped tvdageegsr
      361 reeaakepkk kasaleegss dasqeleise hmkepqlsds iasdpksfhg ldfgfrsris
      421 ehlldvdvls pvlggacrqa qqplgiedkd dsqssqdelq skqskgleer yhrlspplph
      481 eeraqspprs lateeeppqg pegqpewkea eelgedsaas lslqlslqrr stepvappeq
      541 lseaalkame eavaqvleqd qrhlleskqe kmqqlreklc qeeeeeilrl hqqkeqslss
      601 lrerlqkaie eeearmreee sqrlswlraq vqsstqaded qiraeqeasl qklreelesq
      661 qkaerasleq knrqmleqlk eeieasekse qaalnaakek alqqlreqle gerkeavatl
      721 ekehsaeler lcssleakhr evvsslqkki qeaqqkeeaq lqkclgqveh rvhqksyhva
      781 gyehelssll rekrqevege herrldkmke ehqqvmakar eqyeaeerkq raellghltg
      841 elerlqrahe reletvrqeq hkrledlrrr hreqerklqd leldletrak dvkarlalle
      901 vqeetarrek qqlldvqrqv alkseeatat hqqleeaqke hthllqsnqq lreildelqa
      961 rklklesqvd llqaqsqqlq khfssleaea qkkqhllrev tveennasph fepdlhiedl
     1021 rkslgtnqtk evssslsqsk edlyldslss hnvwhllsae gvalrsakef lvqqtrsmrr
     1081 rqtalkaaqq hwrhelasaq evakdppgik aledmrknle ketrhldemk samrkghnll
     1141 kkkeeklnql esslweeasd egtlggsptk kavtfdlsdm dslssesses fspphldstp
     1201 sltsrkihgl shslrqissq lssvlsilds lnpqspppll asmpaqlppr dpkstptpty
     1261 ygslarfsal ssatptstqw awdsgqgprl pssvaqtvdd fllekwrkyf psgipllsns
     1321 ptplesrlgy msaseqlrll qhshsqvpea gsttfqgiie anrrwlervk ndprlplfss
     1381 tpkpkatlsl lqlgldehnr vkvyrf
//
LOCUS       XP_047283005             553 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase PAK 1 isoform X3 [Homo sapiens].
ACCESSION   XP_047283005
VERSION     XP_047283005.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427049.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..553
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..553
                     /product="serine/threonine-protein kinase PAK 1 isoform
                     X3"
                     /calculated_mol_wt=61501
     Region          74..132
                     /region_name="PBD"
                     /note="P21-Rho-binding domain; pfam00786"
                     /db_xref="CDD:395634"
     Site            order(75,78,81,83,86,103,107)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238526"
     Region          262..517
                     /region_name="STKc_PAK_I"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Group I p21-activated kinase; cd06647"
                     /db_xref="CDD:270814"
     Site            order(276..280,284,297,299,328,344..348,350..351,354,389,
                     391..394,396,406..407,410,423..427,429,456,465..467)
                     /site_type="active"
                     /db_xref="CDD:270814"
     Site            order(276..280,284,297,299,328,344..348,350..351,354,
                     393..394,396,406..407)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270814"
     Site            order(279..280,389,391..393,410,423..427,429,456,465..467)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270814"
     Site            order(281,315,384,386..389,407..408,435..436,438,443,468,
                     471,474)
                     /site_type="other"
                     /note="AID interaction site [polypeptide binding]"
                     /db_xref="CDD:270814"
     Site            406..429
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270814"
     CDS             1..553
                     /gene="PAK1"
                     /gene_synonym="alpha-PAK; IDDMSSD; p65-PAK; PAKalpha"
                     /coded_by="XM_047427049.1:373..2034"
                     /db_xref="GeneID:5058"
                     /db_xref="HGNC:HGNC:8590"
                     /db_xref="MIM:602590"
ORIGIN      
        1 msnngldiqd kppappmrnt stmigagskd agtlnhgskp lppnpeekkk kdrfyrsilp
       61 gdktnkkkek erpeislpsd fehtihvgfd avtgeftgmp eqwarllqts nitkseqkkn
      121 pqavldvlef ynskktsnsq kymsftdksa edynssnaln vkavsetpav ppvsededdd
      181 dddatpppvi aprpehtksv ytrsvieplp vtptrdvats pisptenntt ppdaltrnte
      241 kqkkkpkmsd eeileklrsi vsvgdpkkky trfekigqga sgtvytamdv atgqevaikq
      301 mnlqqqpkke liineilvmr enknpnivny ldsylvgdel wvvmeylagg sltdvvtetc
      361 mdegqiaavc reclqalefl hsnqvihrdi ksdnillgmd gsvkltdfgf caqitpeqsk
      421 rstmvgtpyw mapevvtrka ygpkvdiwsl gimaiemieg eppylnenpl ralyliatng
      481 tpelqnpekl saifrdflnr clemdvekrg sakellqvrk lrfqvfsnfs miaasipedc
      541 qaplqphstd ccs
//
LOCUS       XP_047284484             990 aa            linear   PRI 20-MAR-2023
DEFINITION  R3H domain-containing protein 2 isoform X22 [Homo sapiens].
ACCESSION   XP_047284484
VERSION     XP_047284484.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428528.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..990
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..990
                     /product="R3H domain-containing protein 2 isoform X22"
                     /calculated_mol_wt=108735
     Region          168..229
                     /region_name="R3H_encore_like"
                     /note="R3H domain of encore-like and DIP1-like proteins.
                     Drosophila encore is involved in the germline exit after
                     four mitotic divisions, by facilitating
                     SCF-ubiquitin-proteasome-dependent proteolysis. Maize
                     DBF1-interactor protein 1 (DIP1) containing an R3H...;
                     cd02642"
                     /db_xref="CDD:100071"
     Site            order(201,205)
                     /site_type="other"
                     /note="RxxxH motif"
                     /db_xref="CDD:100071"
     Region          250..303
                     /region_name="SUZ"
                     /note="SUZ domain; pfam12752"
                     /db_xref="CDD:432761"
     Region          <457..>722
                     /region_name="Med15"
                     /note="ARC105 or Med15 subunit of Mediator complex
                     non-fungal; pfam09606"
                     /db_xref="CDD:312941"
     CDS             1..990
                     /gene="R3HDM2"
                     /gene_synonym="CAG6; PR01365"
                     /coded_by="XM_047428528.1:183..3155"
                     /db_xref="GeneID:22864"
                     /db_xref="HGNC:HGNC:29167"
                     /db_xref="MIM:619886"
ORIGIN      
        1 msnsnttqet leimkesekk lveesvnknk fisktpskee iekecedtsl rqetqrrtsn
       61 hgharkraks nsklklvrsl avceesstpf adgpletqdi iqlhiscpsd keeekstkdv
      121 sekedkdknk ekiprkmlsr dssqeytdst gidlheflvn tlkknprdrm mllkleqeil
      181 efindnnnqf kkfpqmtsyh rmllhrvaay fgmdhnvdqt gkaviinkts ntripeqrfs
      241 ehikdeknte fqqrfilkrd dasmdrddnq irvplqdgrr sksieereee yqrvrerifa
      301 retgqngyln dirgnregls rtsssrqsst dselkslepr pwsstdsdgs vrsmrppvtk
      361 assfsgisil trgdsigssk ggsagrisrp gmalgapevc nqvtssqsvr gllpctaqqq
      421 qqqqqqqlpa lpptpqqqpp lnnhmisqad dlsnpfgqms lsrqgsteaa dpsaalfqtp
      481 lisqhpqqts fimastgqpl ptsnystssh apptqqvlpp qgymqppqqi qvsyyppgqy
      541 pnsnqqyrpl shpvayspqr gqqlpqpsqq pglqpmmpnq qqaayqgmig vqqpqnqgll
      601 ssqrssmggq mqglvvqytp lpsyqvpvgs dsqnvvqppf qqpmlvpvsq svqgglpaag
      661 vpvyysmipp aqqngtspsv gflqppgseq yqmpqspspc sppqmpqqys gvspsgpgvv
      721 vmqlnvpngp qppqnpsmvq wshckyysmd qrgqkpgdly spdsspqant qmssspvtsp
      781 tqspapspvt slssvctgls plpvltqfpr pggpaqgdgr ysllgqplqy nlsicppllh
      841 gqstytvhqg qsglkhgnrg krqalksast dlgtadvvlg rvlevtdlpe gitrteadkl
      901 ftqlamsgak iqwlkdaqgl pgggggdnsg taengrhsdl aalytivavf psplaaqnas
      961 lrlnnsvsrf klrmakknyd lrilerassq
//
LOCUS       XP_047284524            1110 aa            linear   PRI 20-MAR-2023
DEFINITION  ELKS/Rab6-interacting/CAST family member 1 isoform X9 [Homo
            sapiens].
ACCESSION   XP_047284524
VERSION     XP_047284524.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428568.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1110
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1110
                     /product="ELKS/Rab6-interacting/CAST family member 1
                     isoform X9"
                     /calculated_mol_wt=127481
     Region          154..976
                     /region_name="Cast"
                     /note="RIM-binding protein of the cytomatrix active zone;
                     pfam10174"
                     /db_xref="CDD:431111"
     Region          1062..1102
                     /region_name="RBD-FIP"
                     /note="FIP domain; pfam09457"
                     /db_xref="CDD:401421"
     CDS             1..1110
                     /gene="ERC1"
                     /gene_synonym="Cast2; ELKS; ERC-1; RAB6IP2"
                     /coded_by="XM_047428568.1:241..3573"
                     /db_xref="GeneID:23085"
                     /db_xref="HGNC:HGNC:17072"
                     /db_xref="MIM:607127"
ORIGIN      
        1 mygsarsvgk vepssqspgr sprlprsprl ghrrtnstgg ssgssvgggs gktlsmeniq
       61 slnaayatsg pmylsdhenv gsetpkstmt lgrsggrlpy gvrmtamgss pniassgvas
      121 dtiafgehhl ppvsmastvp hslrqardnt imdlqtqlke vlrendllrk dvevkeskls
      181 ssmnsiktfw spelkkeral rkdeaskiti wkeqyrvvqe enqhmqmtiq alqdelriqr
      241 dlnqlfqqds ssrtgepcva elteenfqrl haeherqake lfllrktlee melrietqkq
      301 tlnardesik kllemlqskg lsakateedh ertrrlaeae mhvhhlesll eqkekensml
      361 reemhrrfen apdsaktkal qtviemkdsk issmerglrd leeeiqmlks ngalsteere
      421 eemkqmevyr shskfmknki gqvkqelsrk dtellalqtk letltnqfsd skqhievlke
      481 sltakeqraa ilqtevdalr lrleeketml nkktkqiqdm aeekgtqage ihdlkdmldv
      541 kerkvnvlqk kienlqeqlr dkekqmsslk ervkslqadt tntdtalttl eealaekert
      601 ierlkeqrdr derekqeeid nykkdlkdlk ekvsllqgdl sekeaslldl kehasslass
      661 glkkdsrlkt leialeqkke eclkmesqlk kaheaalear aspemsdriq hlereitryk
      721 desskaqaev drlleilkev enekndkdkk iaelesltsr qvkdqnkkva nlkhkeqvek
      781 kksaqmleea rrrednlnds sqqlqdslrk kddrieelee alresvqita eremvlaqee
      841 sartnaekql lreilhetsy lnfkwfkvee llmamekvkq elesmkakls stqqslaeke
      901 thltnlraer rkhleevlem kqeallaais ekdanialle lssskkktqe evaalkrekd
      961 rlvqqlkqqt qnrmklmadn yeddhfkssh snqtnhkpsp dqiiqpllel dqnrsklkly
     1021 ighlttlchd rdplilrglt ppasynlddd qaawenelqk mtrgqlqdel ekgerdnael
     1081 qefanailqq iadhcpdile qvvnaleess
//
LOCUS       XP_047284691             694 aa            linear   PRI 20-MAR-2023
DEFINITION  GAS2-like protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_047284691
VERSION     XP_047284691.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428735.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..694
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..694
                     /product="GAS2-like protein 3 isoform X1"
                     /calculated_mol_wt=75083
     Region          44..172
                     /region_name="CH_GAS2L3"
                     /note="calponin homology (CH) domain found in growth
                     arrest-specific protein 2-like 3; cd21269"
                     /db_xref="CDD:409118"
     Site            order(50,54,120,122..123,126..127,129,139..147,153,
                     155..156,158..159,162..163,166)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409118"
     Region          213..281
                     /region_name="GAS2"
                     /note="Growth-Arrest-Specific Protein 2 Domain; pfam02187"
                     /db_xref="CDD:426644"
     Region          <309..693
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     CDS             1..694
                     /gene="GAS2L3"
                     /gene_synonym="G2L3"
                     /coded_by="XM_047428735.1:447..2531"
                     /db_xref="GeneID:283431"
                     /db_xref="HGNC:HGNC:27475"
                     /db_xref="MIM:617224"
ORIGIN      
        1 mqpaiqvwfg edlplsprsp ltprhgpgla nvcqydewia vrheatllpm qedlsiwlsg
       61 llgikvkaek lleeldngvl lcqlidvlqn mvktcnsees gnfpmrkvpc kkdaasgsff
      121 ardntanflh wcrdigvdet ylfeseglvl hkdprqvylc lleigrivsr ygveppvlvk
      181 lekeieleet llntsgpeds isipksccrh eelheavkhi aedppcscsh rfsieylseg
      241 ryrlgdkilf irmlhgkhvm vrvgggwdtl qgfllkydpc rilqfatleq kilafqkgvs
      301 nesvpdspar tpqppemnpl savnmfqkqn skpsvpvsip kskekqgrpp galvpasslk
      361 ggnlgsmsvr sklpnspaas shpklksskg itkkpqapsn nassslasln pvgkntsspa
      421 lprtapcise sprkcisspn tpkakvipaq nsadlpestl lpnkcsgktq pkylkhnhis
      481 srdnavshla ahsnssskcp klpkanipvr pkpsfqssak mtktssktia tglgtqsqps
      541 dgapqakpvp aqklksalnl nqpvsvssvs pvkatqkskd knivsatkkq pqnksafqkt
      601 gpsslkspgr tplsivslpq sstktqtapk saqtvaksqh stkgpprsgk tpasirkpps
      661 svkdadsgdk kptakkkedd dhyfvmtgsk kprk
//
LOCUS       XP_047285726            1260 aa            linear   PRI 20-MAR-2023
DEFINITION  liprin-alpha-2 isoform X1 [Homo sapiens].
ACCESSION   XP_047285726
VERSION     XP_047285726.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429770.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1260
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1260
                     /product="liprin-alpha-2 isoform X1"
                     /calculated_mol_wt=143391
     Region          <39..329
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          <201..533
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          898..968
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat1"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     1; cd09562"
                     /db_xref="CDD:188961"
     Region          1022..1087
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat2"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     2; cd09565"
                     /db_xref="CDD:188964"
     Region          1107..1178
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat3"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     3; cd09568"
                     /db_xref="CDD:188967"
     CDS             1..1260
                     /gene="PPFIA2"
                     /coded_by="XM_047429770.1:182..3964"
                     /db_xref="GeneID:8499"
                     /db_xref="HGNC:HGNC:9246"
                     /db_xref="MIM:603143"
ORIGIN      
        1 mmcevmptin edtpmsqrgs qssgsdsdsh feqlmvnmld erdrlldtlr etqeslslaq
       61 qrlqdviydr dslqrqlnsa lpqdiesltg glagskgadp pefaaltkel nacreqllek
      121 eeeiselkae rnntrllleh leclvsrher slrmtvvkrq aqspsgvsse vevlkalksl
      181 fehhkaldek vrerlrvsle rvsaleeela aanqeivalr eqnvhiqrkm assegstese
      241 hlegmepgqk vhekrlsngs idstdetsqi velqellekq nyemaqmker laalssrvge
      301 veqeaetark dlikteemnt kyqrdiream aqkedmeeri ttlekrylsa qrestsihdm
      361 ndklenelan keailrqmee knrqlqerle laeqklqqtm rkaetlpeve aelaqriaal
      421 tkaeerhgni eermrhlegq leeknqelqr arqrekmnee hnkrlsdtvd rlltesnerl
      481 qlhlkermaa leeknvliqe setfrknlee slhdkerlae eieklrseld qlkmrtgsli
      541 eptiprthld tsaelrysvg slvdsqsdyr ttkvirrprr grmgvrrdep kvkslgdhew
      601 nrtqqigvls shpfesdtem sdiddddret ifssmdllsp sghsdaqtla mmlqeqldai
      661 nkeirliqee kestelraee ienrvasvsl eglnlarvhp gtsitasvta sslassspps
      721 ghstpkltpr sparemdrmg vmtlpsdlrk hrrkiavvee dgredkatik cetsppptpr
      781 alrmthtlps syhndarssl svslepeslg lgsanssqds lhkapkkkgi kssigrlfgk
      841 kekarlgqlr gfmeteaaaq eslglgklgt qaekdrrlkk ntsghellee arrkglpfaq
      901 wdgptvvawl elwlgmpawy vaacranvks gaimsalsdt eiqreigisn plhrlklrla
      961 iqemvsltsp sapptsrtps gnvwvtheem enlaapaktk eseegswaqc pvflqtlayg
     1021 dmnhewigne wlpslglpqy rsyfmeclvd armldhltkk dlrvhlkmvd sfhrtslqyg
     1081 imclkrlnyd rkelerrrea sqheikdvlv wsndrvirwi qaiglreyan nilesgvhgs
     1141 lialdenfdy sslalllqip tqntqarqil ereynnllal gterrldesd dknfrrgstw
     1201 rrqfpprevh gismmpgsse tlpagfrltt tsgqsrkmtt dvassrlqrl dnstvrtysc
//
LOCUS       XP_011537282             166 aa            linear   PRI 20-MAR-2023
DEFINITION  mitochondrial translation release factor in rescue isoform X1 [Homo
            sapiens].
ACCESSION   XP_011537282
VERSION     XP_011537282.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011538980.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..166
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..166
                     /product="mitochondrial translation release factor in
                     rescue isoform X1"
                     /calculated_mol_wt=18697
     Region          53..>116
                     /region_name="RF-1"
                     /note="RF-1 domain; pfam00472"
                     /db_xref="CDD:425702"
     CDS             1..166
                     /gene="MTRFR"
                     /gene_synonym="C12orf65; COXPD7; mtRF-R; SPG55"
                     /coded_by="XM_011538980.4:113..613"
                     /db_xref="GeneID:91574"
                     /db_xref="HGNC:HGNC:26784"
                     /db_xref="MIM:613541"
ORIGIN      
        1 mstvglfhfp tpltricpap wglrlweklt llspgiavtp vqmagkkdyp allsldenel
       61 eeqfvkghgp ggqatnktsn cvvlkhipsg ivvkchqtrs vdqnrklark ilqekvdvfy
      121 ngenspvhke kreaakkkqe rkkraketle kkkllkelwe sskkvh
//
LOCUS       XP_047286993             167 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 229B isoform X1 [Homo sapiens].
ACCESSION   XP_047286993
VERSION     XP_047286993.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431037.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..167
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..167
                     /product="transmembrane protein 229B isoform X1"
                     /calculated_mol_wt=19400
     Region          <50..>135
                     /region_name="ABC_trans_CmpB"
                     /note="Putative ABC-transporter type IV; pfam06541"
                     /db_xref="CDD:428997"
     CDS             1..167
                     /gene="TMEM229B"
                     /gene_synonym="C14orf83"
                     /coded_by="XM_047431037.1:387..890"
                     /db_xref="GeneID:161145"
                     /db_xref="HGNC:HGNC:20130"
                     /db_xref="MIM:619022"
ORIGIN      
        1 masaepltal srwylyaihg yfcevmftaa wefvvnlnwk fpgvtsvwal fiygtsiliv
       61 ermylrlrgr cplllrcliy tlwtylweft tgfilrqfna cpwdysqfdf dfmglitley
      121 avpwfcgali meqfiirntl rlrfdkdaep gepsgalala nghvktd
//
LOCUS       XP_047287218             319 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin-2 isoform X1 [Homo sapiens].
ACCESSION   XP_047287218
VERSION     XP_047287218.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431262.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..319
                     /product="pleckstrin-2 isoform X1"
                     /calculated_mol_wt=36118
     Region          3..113
                     /region_name="PH1_Pleckstrin_2"
                     /note="Pleckstrin 2 Pleckstrin homology (PH) domain,
                     repeat 1; cd13301"
                     /db_xref="CDD:270113"
     Region          128..228
                     /region_name="DEP_PLEK2"
                     /note="DEP (Dishevelled, Egl-10, and Pleckstrin) domain
                     found in pleckstrin 2-like proteins. Pleckstrin 2 is found
                     in a wide variety of cell types, which suggest a more
                     general role in signaling than pleckstrin 1.
                     Pleckstrin-like proteins contain a central...; cd04444"
                     /db_xref="CDD:239891"
     Region          224..319
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     CDS             1..319
                     /gene="PLEK2"
                     /coded_by="XM_047431262.1:107..1066"
                     /db_xref="GeneID:26499"
                     /db_xref="HGNC:HGNC:19238"
                     /db_xref="MIM:608007"
ORIGIN      
        1 medgvlkegf lvkrghivhn wkarwfilrq ntlvyykleg grrvtppkgr illdgctitc
       61 pcleyenrpl liklktqtst eyfleacsre erdawafeit gaihagqpgk vqqlhslrns
      121 fklpphislh rivdkmhdsn tgirsspnme qgstykktfl gsslvdwlis nsftasrlea
      181 vtlasmlmee nflrpvgvrs mgairsgdla eqflddstal ytfghkrknw kvrrfvlrkd
      241 paflhyydps keenrpvggf slrgslvsal edngvptgvk gnvqgnlfkv itkddthyyi
      301 qasskaerae wieaikklt
//
LOCUS       XP_047288546            1431 aa            linear   PRI 20-MAR-2023
DEFINITION  neogenin isoform X10 [Homo sapiens].
ACCESSION   XP_047288546
VERSION     XP_047288546.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432590.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1431
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1431
                     /product="neogenin isoform X10"
                     /calculated_mol_wt=156720
     Region          52..148
                     /region_name="IgI_1_Neogenin_like"
                     /note="First immunoglobulin (Ig)-like domain in neogenin,
                     and similar domains; member of the I-set of Ig superfamily
                     (IgSF) domains; cd05722"
                     /db_xref="CDD:409387"
     Region          52..55
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409387"
     Region          58..64
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409387"
     Region          68..78
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409387"
     Region          82..88
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409387"
     Region          90..93
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409387"
     Region          100..105
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409387"
     Region          107..113
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409387"
     Region          125..132
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409387"
     Region          137..148
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409387"
     Region          152..224
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          169..173
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          182..186
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          204..208
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          218..223
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          250..337
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          266..270
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          279..283
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          303..307
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          317..322
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          330..333
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          344..427
                     /region_name="IgI_4_Neogenin_like"
                     /note="Fourth immunoglobulin (Ig)-like domain in neogenin,
                     and similar domains; member of the I-set of Ig superfamily
                     (IgSF) domains; cd05723"
                     /db_xref="CDD:409388"
     Region          344..347
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409388"
     Region          349..353
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409388"
     Region          356..365
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409388"
     Region          370..376
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409388"
     Region          378..381
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409388"
     Region          386..390
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409388"
     Region          394..398
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409388"
     Region          406..414
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409388"
     Region          417..427
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409388"
     Region          459..552
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(459,525,540)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(541..542,544..545)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          559..648
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(559,621,636)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(637..638,640..641)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          656..748
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(737..738,740..741)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          759..838
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Site            order(759,821,836)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(837..838,840..841)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          860..953
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(942..943,945..946)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          960..1055
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(1044..1045,1047..1048)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1128..1431
                     /region_name="Neogenin_C"
                     /note="Neogenin C-terminus; pfam06583"
                     /db_xref="CDD:429016"
     CDS             1..1431
                     /gene="NEO1"
                     /gene_synonym="IGDCC2; NGN; NTN1R2"
                     /coded_by="XM_047432590.1:284..4579"
                     /db_xref="GeneID:4756"
                     /db_xref="HGNC:HGNC:7754"
                     /db_xref="MIM:601907"
ORIGIN      
        1 maaergarrl lstpsfwlyc llllgrrapg aaaarsgsap qspgasirtf tpfyflvepv
       61 dtlsvrgssv ilncsaysep spkiewkkdg tflnlvsddr rqllpdgslf isnvvhskhn
      121 kpdegyyqcv atveslgtii srtaklivag lprftsqpep ssvyagnnai lncevnadlv
      181 pfvrweqnrq plllddrvik lpsgmlvisn ategdgglyr cvvesggppk ysdevelkvl
      241 pdpevisdlv flkqpsplvr vigqdvvlpc vasglptpti kwmkneeald tesserlvll
      301 aggsleisdv teddagtyfc iadngnetie aqaeltvqaq peflkqptni yahesmdivf
      361 ecevtgkptp tvkwvkngdm vipsdyfkiv kehnlqvlgl vksdegfyqc iaendvgnaq
      421 agaqliileh dvaiptlppt sltsattdhl apattgplps aprdvvaslv strfikltwr
      481 tpasdphgdn ltysvfytke giarervent shpgemqvti qnlmpatvyi frvmaqnkhg
      541 sgessaplrv etqpevqlpg papnlrayaa sptsitvtwe tpvsgngeiq nyklyymekg
      601 tdkeqdvdvs shsytinglk kyteysfrvv aynkhgpgvs tpdvavrtls dvpsaapqnl
      661 slevrnsksi mihwqppapa tqngqitgyk iryrkasrks dvtetlvsgt qlsqliegld
      721 rgteynfrva altingtgpa tdwlsaetfe sdldetrvpe vpsslhvrpl vtsivvswtp
      781 penqnivvrg yaigygigsp haqtikvdyk qryytienld psshyvitlk afnnvgegip
      841 lyesavtrph tvpdptpmmp pvgvqasils hdtiritwad nslpkhqkit dsryytvrwk
      901 tnipantkyk nanattlsyl vtglkpntly efsvmvtkgr rsstwsmtah gttfelvpts
      961 ppkdvtvvsk egkpktiivn wqppseangk itgyiiyyst dvnaeihdwv iepvvgnrlt
     1021 hqiqeltldt pyyfkiqarn skgmgpmsea vqfrtpkgsn sphgsptspl dsnmllviiv
     1081 svgvitivvv viiavfctrr ttshqkkkra acksvngshk ykgnskdvkp pdlwihherl
     1141 elkpidkspd pnpimtdtpi prnsqditpv dnsmdsnihq rrnsyrghes edsmstlagr
     1201 rgmrpkmmmp fdsqppqpvi sahpihsldn phhhfhsssl asparshlyh pgspwpigts
     1261 mslsdranst esvrntpstd tmpasssqtc ctdhqdpega tsssylassq eedsgqslpt
     1321 ahvrpshplk sfavpaippp gpptydpalp stpllsqqal nhhihsvkta sigtlgrsrp
     1381 pmpvvvpsap evqettrmle dsessyepde ltkemahleg lmkdlnaitt a
//
LOCUS       XP_047288790             312 aa            linear   PRI 20-MAR-2023
DEFINITION  dnaJ homolog subfamily A member 4 isoform X1 [Homo sapiens].
ACCESSION   XP_047288790
VERSION     XP_047288790.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432834.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..312
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..312
                     /product="dnaJ homolog subfamily A member 4 isoform X1"
                     /calculated_mol_wt=35190
     Region          <2..309
                     /region_name="PTZ00037"
                     /note="DnaJ_C chaperone protein; Provisional"
                     /db_xref="CDD:240236"
     CDS             1..312
                     /gene="DNAJA4"
                     /gene_synonym="MST104; MSTP104; PRO1472"
                     /coded_by="XM_047432834.1:373..1311"
                     /db_xref="GeneID:55466"
                     /db_xref="HGNC:HGNC:14885"
ORIGIN      
        1 mdifdmffgg ggrmarerrg knvvhqlsvt ledlyngvtk klalqknvic ekcegvggkk
       61 gsvekcplck grgmqihiqq igpgmvqqiq tvcieckgqg erinpkdrce scsgakvire
      121 kkiievhvek gmkdgqkilf hgegdqepel epgdviivld qkdhsvfqrr ghdlimkmki
      181 qlsealcgfk ktiktldnri lvitskagev ikhgdlrcvr degmpiykap lekgiliiqf
      241 lvifpekhwl sleklpqlea llpprqkvri tddmdqvelk efcpneqnwr qhreayeede
      301 dgpqagvqcq ta
//
LOCUS       XP_011520124            1718 aa            linear   PRI 20-MAR-2023
DEFINITION  ADAMTS-like protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_011520124
VERSION     XP_011520124.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521822.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1718
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1718
                     /product="ADAMTS-like protein 3 isoform X1"
                     /calculated_mol_wt=191198
     Region          78..124
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          129..227
                     /region_name="ADAM_CR_3"
                     /note="ADAM cysteine-rich domain; pfam19236"
                     /db_xref="CDD:437068"
     Region          370..428
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          449..506
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          509..561
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          595..652
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          675..730
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          734..786
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          790..846
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          852..907
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          <956..1020
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          957..961
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          970..974
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          992..996
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1006..1011
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1015..1018
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1212..1294
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          1238..1242
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1251..1255
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1273..1277
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1287..1292
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1320..1410
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          1344..1348
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1357..1361
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1377..1381
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1391..1396
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1404..1407
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1455..1510
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          1514..1571
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          1628..1682
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          1686..1716
                     /region_name="PLAC"
                     /note="PLAC (protease and lacunin) domain; pfam08686"
                     /db_xref="CDD:430154"
     CDS             1..1718
                     /gene="ADAMTSL3"
                     /gene_synonym="ADAMTSL-3"
                     /coded_by="XM_011521822.3:188..5344"
                     /db_xref="GeneID:57188"
                     /db_xref="HGNC:HGNC:14633"
                     /db_xref="MIM:609199"
ORIGIN      
        1 maswtspwwv ligmvfmhsp lpqttaeksp gayflpefal spqgsfledt tgeqfltyry
       61 ddqtsrntrs dedkdgnwda wgdwsdcsrt cgggasyslr rcltgrnceg qniryktcsn
      121 hdcppdaedf raqqcsaynd vqyqghyyew lpryndpaap calkchaqgq nlvvelapkv
      181 ldgtrcntds ldmcisgicq avgcdrqlgs nakedncgvc agdgstcrlv rgqskshvsp
      241 ektpglppgq ggplpgghls aiyewpilkg eenviavplg srsvritvkg pahlfieskt
      301 lqgskgehsf nspgvflven ttvefqrgse rqtfkipgpl madfifktry taakdsvvqf
      361 ffyqpishqw rqtdffpctv tcgggyqlns aecvdirlkr vvpdhychyy penvkpkpkl
      421 kecsmdpcps sdgfkeimpy dhfqplprwe hnpwtacsvs cgggiqrrsf vcveesmhge
      481 ilqveewkcm yapkpkvmqt cnlfdcpkwi amewsqctvt cgrglryrvv lcinhrgehv
      541 ggcnpqlklh ikeecvipip cykpkekspv eaklpwlkqa qeleetriat eeptfipepw
      601 sacsttcgpg vqvrevkcrv lltftqtete lpeeecegpk lpterpclle acdespasre
      661 ldiplpedse ttydweyagf tpctatcvgg hqeaiavclh iqtqqtvnds lcdmvhrppa
      721 msqacntepc pprwhvgswg pcsatcgvgi qtrdvyclhp getpappeec rdekphalqa
      781 cnqfdcppgw hieewqqcsr tcgggtqnrr vtcrqlltdg sflnlsdelc qgpkasshks
      841 cartdcpphl avgdwskcsv scgvgiqrrk qvcqrlaakg rriplsemmc rdlpglplvr
      901 scqmpecski ksemktklge qgpqilsvqr vyiqtreekr inltigsray llpntsviik
      961 cpvrrfqksl iqwekdgrcl qnskrlgitk sgslkihgla apdigvyrci agsaqetvvl
     1021 kligtdnrli arpalrepmr eypgmdhsea nslgvtwhkm rqmwnnkndl yldddhisnq
     1081 pflrallghc snsagstnsw elknkqfeaa vkqgaysmdt aqfdelirnm sqlmetgevs
     1141 ddlasqliyq lvaelakaqp thmqwrgiqe etppaaqlrg etgsvsqssh aknsgkltfk
     1201 pkgpvlmrqs qppsisfnkt insrigntvy itkrtevini lcdlitpsea tytwtkdgtl
     1261 lqpsvkiild gtgkiqiqnp trkeqgiyec svanhlgsdv esssvlyaea pvilsverni
     1321 tkpehnhlsv vvggiveaal ganvtircpv kgvpqpnitw lkrggslsgn vsllfngsll
     1381 lqnvsleneg tyvciatnal gkavatsvlh llerrwpesr ivflqghkky ilqatntrtn
     1441 sndptgeppp qepfwepgnw shcsatcghl gariqrpqcv mangqevsea lcdhlqkpla
     1501 gfepcnirdc parwftsvws qcsvscgegy hsrqvtckrt kangtvqvvs pracapkdrp
     1561 lgrkpcfghp cvqwepgnrc pgrcmgravr mqqrhtacqh nssdsncddr krptlrrnct
     1621 sgacdvcwht gpwkpctaac grgfqsrkvd cihtrsckpv akrhcvqkkk piswrhclgp
     1681 scdrdctdtt hycmfvkhln lcsldrykqr ccqscqeg
//
LOCUS       XP_047290295             655 aa            linear   PRI 20-MAR-2023
DEFINITION  sphingomyelin phosphodiesterase 3 isoform X1 [Homo sapiens].
ACCESSION   XP_047290295
VERSION     XP_047290295.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434339.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..655
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..655
                     /product="sphingomyelin phosphodiesterase 3 isoform X1"
                     /calculated_mol_wt=70950
     Region          171..>321
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          338..646
                     /region_name="nSMase"
                     /note="Neutral sphingomyelinases (nSMase) catalyze the
                     hydrolysis of sphingomyelin in biological membranes to
                     ceramide and phosphorylcholine; cd09078"
                     /db_xref="CDD:197312"
     Site            order(364,406,461,510,512,607,638..639)
                     /site_type="active"
                     /note="putative catalytic site [active]"
                     /db_xref="CDD:197312"
     Site            order(364,638..639)
                     /site_type="other"
                     /note="phosphate binding site [ion binding]"
                     /db_xref="CDD:197312"
     Site            order(366,368,403..404)
                     /site_type="metal-binding"
                     /note="metal binding site C [ion binding]"
                     /db_xref="CDD:197312"
     Site            order(510,512,639)
                     /site_type="metal-binding"
                     /note="metal binding site B [ion binding]"
                     /db_xref="CDD:197312"
     CDS             1..655
                     /gene="SMPD3"
                     /gene_synonym="NSMASE2"
                     /coded_by="XM_047434339.1:1213..3180"
                     /db_xref="GeneID:55512"
                     /db_xref="HGNC:HGNC:14240"
                     /db_xref="MIM:605777"
ORIGIN      
        1 mvlyttpfpn sclsalhcvs walifpcywl vdrlaasfip ttyekrqrad dpcclqllct
       61 alftpiylal lvaslpfafl gflfwsplqs arrpyiysrl edkglaggaa llsewkgtgp
      121 gksfcfatan vcllpdslar vnnlfntqar akeigqrirn gaarpqikiy idsptntsis
      181 aasfsslvsp qggdgvarav pgsikrtasv eykgdggrhp gdeaangpas gdpvdssspe
      241 dacivrigge eggrppeadd pvpggqarng agggprgqtp nhnqqdgdsg slgspsasre
      301 slvkgragpd tsasgepgan skllykasvv kkaaarrrrh pdeafdhevs affpanldfl
      361 clqevfdkra atklkeqlhg yfeyilydvg vygcqgccsf kclnsgllfa srypimdvay
      421 hcypnkcndd alaskgalfl kvqvgstpqd qrivgyiact hlhapqedsa ircgqldllq
      481 dwladfrkst ssssaanpee lvafdvvcgd fnfdncssdd kleqqhslft hyrdpcrlgp
      541 geekpwaigt lldtnglyde dvctpdnlqk vleseegrre ylafptskss gqkgrkellk
      601 gngrridyml haeeglcpdw kaeveefsfi tqlsgltdhl pvamrlmvss geeea
//
LOCUS       XP_016879754            1170 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and fibronectin type-III domain-containing protein 1
            isoform X1 [Homo sapiens].
ACCESSION   XP_016879754
VERSION     XP_016879754.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017024265.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1170
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1170
                     /product="ankyrin repeat and fibronectin type-III
                     domain-containing protein 1 isoform X1"
                     /calculated_mol_wt=132155
     Region          <158..219
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          158..192
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          194..219
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          292..385
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(292,360,375)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(376..377,379..380)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..1170
                     /gene="ANKFN1"
                     /coded_by="XM_017024265.3:384..3896"
                     /db_xref="GeneID:162282"
                     /db_xref="HGNC:HGNC:26766"
ORIGIN      
        1 mkngkedngm estgptlwls amdhsviwrl lfkdrhftcs kiigrrfacf aqrlshrrkq
       61 sqcdllnest gqlpttcssa asnsinwncr vkmtqqmqnl hlcqskkhsa psspnaakrl
      121 yrnlseklkg shssfdeayf rtrtdrlslr ktsvnfqgne amfeaveqqd mdavqillyq
      181 ytpeeldlnt pnsegltpld iaimtnnvpi arillrtgar esphfvsles ramhlntlvq
      241 eaqervsels aqvenegftl dntekekqlk awewryrlyr rmktgfehar apemptnvcl
      301 mvtsstsltv sfqeplsvna avvtrykvew smsedfspla geiimdnlqt lrctitgltm
      361 gqqyfvqvsa ynmkgwgpaq tttpacasps nwkdyddrep rhkgqsevle gllqqvralh
      421 qhyscrestk lqttgrkqsv srslkhlfhs snkfvktlkr glyiavifyy kdnilvtned
      481 qvpiveidds htssitqdfl wftklscmwe dirwlrqsip issssstvlq trqkmlaata
      541 qlqnllgthn lgrvyyepik drhgnilivt irevemlysf fngkwmqisk lqsqrkslst
      601 peeptaldil litiqdilsy hkrshqrlfp glylgylklc ssvdqikvlv tqklpnilch
      661 vkirennnis reewewiqkl sgsesmesvd htsdcpmqlf fyelqmavka llqqiniplh
      721 qarnfrlytq evlemghnvs fllllpasdd vctapgqnnp ytphsgflnl plqmfelvhf
      781 csyrekfisl ycrlsavvel dslntqqslr eaisdsevaa akqrhqqvld fiqqidevwr
      841 emrwimdalq yarykqpvsg lpitklidps deqslkkins tssshidclp spppspemhr
      901 rktvsdsqpc sdeeacsevf lptnsdydss dalsprdldl vylsshdiaq qtlsglsgsa
      961 pdvlqvhdvk tplgpgqdpq gegpnpdhsc aeflhsltlt gftpknhakt vsggrpplgf
     1021 lgkrkpgkhp hyggfsrhhr wlrihsetqs lslsegiytq hlsqacglaq epkeakragp
     1081 alddprgltl ahaaslpeer nsslqdarps vrrlyvepya aavvaqdekp waslsppsgg
     1141 ritlpsptgp dvsqegptas pmseilssml
//
LOCUS       XP_047291681             334 aa            linear   PRI 20-MAR-2023
DEFINITION  dehydrogenase/reductase SDR family member 7B isoform X5 [Homo
            sapiens].
ACCESSION   XP_047291681
VERSION     XP_047291681.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435725.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..334
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..334
                     /product="dehydrogenase/reductase SDR family member 7B
                     isoform X5"
                     /calculated_mol_wt=35405
     Region          97..>304
                     /region_name="11beta-HSD1_like_SDR_c"
                     /note="11beta-hydroxysteroid dehydrogenase type 1
                     (11beta-HSD1)-like, classical (c) SDRs; cd05332"
                     /db_xref="CDD:187593"
     Site            order(106..111,130..132,161..163,189..191,193,212,217,
                     239..241,254,258,284..287,289,291..292)
                     /site_type="other"
                     /note="NADP binding site [chemical binding]"
                     /db_xref="CDD:187593"
     Site            order(166,196..200,203,206..207,210..211,214..215,219,222,
                     245..252,255..256,259..260,262..264,266..268,270..271,
                     298..302)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:187593"
     Site            order(191,194,241..243,248,251,254,284..286,291..292,
                     295..296)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:187593"
     Site            order(213,241,254,258)
                     /site_type="active"
                     /db_xref="CDD:187593"
     CDS             1..334
                     /gene="DHRS7B"
                     /gene_synonym="CGI-93; SDR32C1"
                     /coded_by="XM_047435725.1:1516..2520"
                     /db_xref="GeneID:25979"
                     /db_xref="HGNC:HGNC:24547"
                     /db_xref="MIM:616160"
ORIGIN      
        1 mlvlgagpct esplgvceac gqksicgphc nslgaapprn vrplsvcsee dknwkslpkv
       61 kamdfitsta ilpllfgclg vfglfrllqw vrgkaylrna vvvitgatsg lgkecakvfy
      121 aagaklvlcg rnggaleeli reltashatk vqthkpylvt fdltdsgaiv aaaaeilqcf
      181 gyvdilvnna gisyrgtimd ttvdvdkrvm etnyfgpval tkallpsmik rrqghivais
      241 siqgkmsipf rsayaaskha tqaffdclra emeqyeievt vispgyihtn lsvnaitadg
      301 ssyghhhspg pkpcgggpgc scccgeeeer cdpg
//
LOCUS       XP_005276939             717 aa            linear   PRI 20-MAR-2023
DEFINITION  platelet endothelial cell adhesion molecule isoform X4 [Homo
            sapiens].
ACCESSION   XP_005276939
VERSION     XP_005276939.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005276882.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..717
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..717
                     /product="platelet endothelial cell adhesion molecule
                     isoform X4"
                     /calculated_mol_wt=80062
     Region          43..127
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          53..57
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          72..76
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          92..96
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          106..111
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          120..123
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          327..401
                     /region_name="Ig_2"
                     /note="Immunoglobulin domain; pfam13895"
                     /db_xref="CDD:433563"
     Region          343..347
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          356..360
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          383..388
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          397..400
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          423..480
                     /region_name="Ig_C17orf99"
                     /note="C17orf99 Ig domain; pfam17736"
                     /db_xref="CDD:436002"
     Region          509..583
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     CDS             1..717
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /coded_by="XM_005276882.2:196..2349"
                     /db_xref="GeneID:5175"
                     /db_xref="HGNC:HGNC:8823"
                     /db_xref="MIM:173445"
ORIGIN      
        1 mqprwaqgat mwlgvlltll lcsslegqen sftinsvdmk slpdwtvqng knltlqcfad
       61 vsttshvkpq hqmlfykddv lfynissmks tesyfipevr iydsgtykct vivnnkektt
      121 aeyqvlvegv psprvtldkk eaiqggivrv ncsvpeekap ihftieklel nekmvklkre
      181 knsrdqnfvi lefpveeqdr vlsfrcqari isgihmqtse stkselvtvt esfstpkfhi
      241 sptgmimega qlhikctiqv thlaqefpei iiqkdkaiva hnrhgnkavy svmamvehsg
      301 nytckvessr iskvssivvn itelfskpel essfthldqg erlnlscsip gappanftiq
      361 kedtivsqtq dftkiasksd sgtyictagi dkvvkksntv qivvcemlsq prisydaqfe
      421 vikgqtievr cesisgtlpi syqllktskv lenstknsnd pavfkdnpte dveyqcvadn
      481 chshakmlse vlrvkviapv devqisilss kvvesgediv lqcavnegsg pitykfyrek
      541 egkpfyqmts natqafwtkq kaskeqegey yctafnranh assvprskil tvrvilapwk
      601 kgliavviig viialliiaa kcyflrkaka kqmpvemsrp avpllnsnne kmsdpnmean
      661 shyghnddvr nhamkpindn kdlgkkdtet vysevrkavp davesrysrt egsldgt
//
LOCUS       XP_011523543             493 aa            linear   PRI 20-MAR-2023
DEFINITION  UNC93-like protein MFSD11 isoform X1 [Homo sapiens].
ACCESSION   XP_011523543
VERSION     XP_011523543.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011525241.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Jun 6, 2016 this sequence version replaced XP_011523543.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..493
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..493
                     /product="UNC93-like protein MFSD11 isoform X1"
                     /calculated_mol_wt=53721
     Region          11..395
                     /region_name="MFS_MFSD11"
                     /note="UNC93-like Major facilitator superfamily
                     domain-containing protein 11; cd17407"
                     /db_xref="CDD:340965"
     Site            order(21..22,25..26,29,63,112..113,115..117,120,144,
                     147..148,151,246,249..250,253..255,258,289,293,356..357,
                     361,365,388,391..392,395)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:340965"
     CDS             1..493
                     /gene="MFSD11"
                     /gene_synonym="ET"
                     /coded_by="XM_011525241.4:371..1852"
                     /db_xref="GeneID:79157"
                     /db_xref="HGNC:HGNC:25458"
ORIGIN      
        1 mspeskklfn iiilgvafmf mftafqtcgn vaqtvirsln rtdfhgsgyt smaiiygvfs
       61 asnlitpsvv aivgpqlsmf asglfysmyi avfiqpfpws fytasvfigi aaavlwtaqg
      121 ncltinsdeh sigrnsgifw allqsslffg nlyiyfawqg ktqisesdrr tvfialtvis
      181 lvgtvlffli rkpdsenvlg edessddqdm evnesaqnnl tkavdafkks fklcvtkeml
      241 llsittaytg leltffsgvy gtcigatnkf gaeeksligl sgifigigei lggslfglls
      301 knnrfgrnpv vllgilvhfi afyliflnmp gdapiapvkg tdssayikss kevailcsfl
      361 lglgdscfnt qllsilgfly sedsapafai fkfvqflwvg nlrmaelspe rlsrlqsmsl
      421 qaavkglals prlecsgtni ahcnlqllas sgpptsafrv awdhkripph sgnffvffvk
      481 tgfhhaarlv lnt
//
LOCUS       XP_047294953             268 aa            linear   PRI 20-MAR-2023
DEFINITION  glutaminyl-peptide cyclotransferase-like protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_047294953
VERSION     XP_047294953.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438997.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..268
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..268
                     /product="glutaminyl-peptide cyclotransferase-like protein
                     isoform X1"
                     /calculated_mol_wt=29474
     Region          79..>262
                     /region_name="Zinc_peptidase_like"
                     /note="Zinc peptidases M18, M20, M28, and M42; cl14876"
                     /db_xref="CDD:449370"
     CDS             1..268
                     /gene="QPCTL"
                     /gene_synonym="gQC"
                     /coded_by="XM_047438997.1:39..845"
                     /db_xref="GeneID:54814"
                     /db_xref="HGNC:HGNC:25952"
ORIGIN      
        1 mrsggrgrpr lrlgerglme pllppkrrll prvrllplll alavgsafyt iwsgwhrrte
       61 elplgrelrv pligslpear lrrvvgqldp qrlwstylrp llvvrtpgsp gnlqvrkfle
      121 atlrsltagw hveldpftas tplgpvdfgn vvatldpraa rhltlachyd sklfppgstp
      181 fvgatdsavp calllelaqa ldlelsrakk qaapvtlqll fldgeealke wgpkdslygs
      241 rhlaqlmesi phspgptriq airsvctv
//
LOCUS       XP_006722909            1679 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription activator BRG1 isoform X1 [Homo sapiens].
ACCESSION   XP_006722909
VERSION     XP_006722909.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006722846.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1679
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..1679
                     /product="transcription activator BRG1 isoform X1"
                     /calculated_mol_wt=188018
     Region          42..>222
                     /region_name="Med15"
                     /note="ARC105 or Med15 subunit of Mediator complex
                     non-fungal; pfam09606"
                     /db_xref="CDD:312941"
     Region          171..205
                     /region_name="QLQ"
                     /note="pfam08880"
                     /db_xref="CDD:430282"
     Region          <370..>552
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          460..532
                     /region_name="HSA"
                     /note="domain in helicases and associated with SANT
                     domains; smart00573"
                     /db_xref="CDD:214727"
     Region          612..656
                     /region_name="BRK"
                     /note="domain in transcription and CHROMO domain
                     helicases; smart00592"
                     /db_xref="CDD:197800"
     Region          731..981
                     /region_name="DEXHc_SMARCA4"
                     /note="DEXH-box helicase domain of SMARCA4; cd18062"
                     /db_xref="CDD:350820"
     Region          750..>1232
                     /region_name="PLN03142"
                     /note="Probable chromatin-remodeling complex ATPase chain;
                     Provisional"
                     /db_xref="CDD:215601"
     Site            order(781..787,821,881..882)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350820"
     Region          1322..1389
                     /region_name="SnAC"
                     /note="Snf2-ATP coupling, chromatin remodelling complex;
                     pfam14619"
                     /db_xref="CDD:434073"
     Region          1490..1596
                     /region_name="Bromo_SNF2L2"
                     /note="Bromodomain, SNF2L2-like subfamily, specific to
                     animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related
                     matrix-associated actin-dependent regulator of chromatin
                     subfamily A member 2 is a global transcriptional
                     activator, which cooperates with nuclear hormone...;
                     cd05516"
                     /db_xref="CDD:99947"
     Site            order(1521,1526,1529,1568,1572,1578)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99947"
     CDS             1..1679
                     /gene="SMARCA4"
                     /gene_synonym="BAF190; BAF190A; BRG1; CSS4; hSNF2b; MRD16;
                     RTPS2; SNF2; SNF2L4; SNF2LB; SWI2"
                     /coded_by="XM_006722846.3:449..5488"
                     /db_xref="GeneID:6597"
                     /db_xref="HGNC:HGNC:11100"
                     /db_xref="MIM:603254"
ORIGIN      
        1 mstpdpplgg tprpgpspgp gpspgamlgp spgpspgsah smmgpspgpp saghpiptqg
       61 pggypqdnmh qmhkpmesmh ekgmsddpry nqmkgmgmrs gghagmgppp spmdqhsqgy
      121 psplggseha sspvpasgps sgpqmssgpg gapldgadpq algqqnrgpt pfnqnqlhql
      181 raqimaykml argqplpdhl qmavqgkrpm pgmqqqmptl pppsvsatgp gpgpgpgpgp
      241 gpgpappnys rphgmggpnm pppgpsgvpp gmpgqppggp pkpwpegpma naaaptstpq
      301 klippqptgr pspappavpp aaspvmppqt qspgqpaqpa pmvplhqkqs ritpiqkprg
      361 ldpveilqer eyrlqariah riqelenlpg slagdlrtka tielkalrll nfqrqlrqev
      421 vvcmrrdtal etalnakayk rskrqslrea riteklekqq kieqerkrrq khqeylnsil
      481 qhakdfkeyh rsvtgkiqkl tkavatyhan tereqkkene riekermrrl maedeegyrk
      541 lidqkkdkrl ayllqqtdey vanltelvrq hkaaqvakek kkkkkkkkae naegqtpaig
      601 pdgepldets qmsdlpvkvi hvesgkiltg tdapkagqle awlemnpgye vaprsdsees
      661 gseeeeeeee eeqpqaaqpp tlpveekkki pdpdsddvse vdarhiiena kqdvddeygv
      721 sqalarglqs yyavahavte rvdkqsalmv ngvlkqyqik glewlvslyn nnlngilade
      781 mglgktiqti alitylmehk ringpfliiv plstlsnway efdkwapsvv kvsykgspaa
      841 rrafvpqlrs gkfnvlltty eyiikdkhil akirwkymiv deghrmknhh ckltqvlnth
      901 yvaprrlllt gtplqnklpe lwallnfllp tifkscstfe qwfnapfamt gekvdlneee
      961 tiliirrlhk vlrpfllrrl kkeveaqlpe kveyvikcdm salqrvlyrh mqakgvlltd
     1021 gsekdkkgkg gtktlmntim qlrkicnhpy mfqhieesfs ehlgftggiv qgldlyrasg
     1081 kfelldrilp klratnhkvl lfcqmtslmt imedyfayrg fkylrldgtt kaedrgmllk
     1141 tfnepgseyf ifllstragg lglnlqsadt viifdsdwnp hqdlqaqdra hrigqqnevr
     1201 vlrlctvnsv eekilaaaky klnvdqkviq agmfdqksss herraflqai leheeqdesr
     1261 hcstgsgsas fahtapppag vnpdleeppl keedevpdde tvnqmiarhe eefdlfmrmd
     1321 ldrrreearn pkrkprlmee delpswiikd daeverltce eeeekmfgrg srhrkevdys
     1381 dsltekqwlk kitgkdihdt assvarglqf qrglqfctra skaieegtle eieeevrqkk
     1441 ssrkrkrdsd agsstpttst rsrdkddesk kqkkrgrppa eklspnppnl tkkmkkivda
     1501 vikykdsssg rqlsevfiql psrkelpeyy elirkpvdfk kikerirnhk yrslndlekd
     1561 vmllcqnaqt fnlegsliye dsivlqsvft svrqkieked dsegeeseee eegeeegses
     1621 esrsvkvkik lgrkekaqdr lkggrrrpsr gsrakpvvsd ddseeeqeed rsgsgseed
//
LOCUS       XP_016882683            1433 aa            linear   PRI 20-MAR-2023
DEFINITION  perilipin-4 isoform X1 [Homo sapiens].
ACCESSION   XP_016882683
VERSION     XP_016882683.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027194.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1433
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..1433
                     /product="perilipin-4 isoform X1"
                     /calculated_mol_wt=142651
     Region          <148..>223
                     /region_name="Perilipin"
                     /note="Perilipin family; pfam03036"
                     /db_xref="CDD:427109"
     Region          <151..585
                     /region_name="COG5412"
                     /note="Phage-related protein [Mobilome: prophages,
                     transposons]"
                     /db_xref="CDD:227699"
     Region          552..1093
                     /region_name="COG5412"
                     /note="Phage-related protein [Mobilome: prophages,
                     transposons]"
                     /db_xref="CDD:227699"
     Region          950..1427
                     /region_name="Perilipin"
                     /note="Perilipin family; pfam03036"
                     /db_xref="CDD:427109"
     CDS             1..1433
                     /gene="PLIN4"
                     /gene_synonym="KIAA1881; S3-12"
                     /coded_by="XM_017027194.2:102..4403"
                     /db_xref="GeneID:729359"
                     /db_xref="HGNC:HGNC:29393"
                     /db_xref="MIM:613247"
ORIGIN      
        1 msapdegrrd ppkpkgktlg sffgslpgfs sarnlvanah ssararpaad ptgapaaeaa
       61 qpqaqvaahp eqtapwteke lqpsekawgp wlspslghav mdeaclqpgk gvrengrgwr
      121 celmrtssrr arvphhspmn vwltgvgqmv sgakdlvcsk msrakdavss gvasvvdvak
      181 gvvqggldtt rsaltgtkev vssgvtgamd makgavqggl dtskavltgt kdtvstgltg
      241 avnvakgtvq agvdttktvl tgtkdtvttg vmgavnlakg tvqtgvetsk avltgtkdav
      301 stgltgavnv argsiqtgvd tsktvltgtk dtvcsgvtga mnvakgtiqt gvdtsktvlt
      361 gtkdtvcsgv tgamnvakgt iqtgvdtskt vltgtkdtvc sgvtgamnva kgtiqtgvdt
      421 tktvltgtkn tvcsgvtgav nlakeaiqgg ldttksmvmg tkdtmstglt gaanvakgam
      481 qtglnttqni atgtkdtvcs gvtgamnlar gtiqtgvdtt kivltgtkdt vcsgvtgaan
      541 vakgavqggl dttksvltgt kdavstgltg avnvakgtvq tgvdttktvl tgtkdtvcsg
      601 vtsavnvakg avqggldttk svvigtkdtm stgltgaanv akgavqtgvd taktvltgtk
      661 dtvttglvga vnvakgtvqt gmdttktvlt gtkdtiysgv tsavnvakga vqtglkttqn
      721 iatgtkntfg sgvtsavnva kgaaqtgvdt aktvltgtkd tvttglmgav nvakgtvqts
      781 vdttktvltg tkdtvcsgvt gaanvakgai qggldttksv ltgtkdavst gltgavklak
      841 gtvqtgmdtt ktvltgtkda vcsgvtgaan vakgavqmgv dtaktvltgt kdtvcsgvtg
      901 aanvakgavq tglkttqnia tgtkntlgsg vtgaakvakg avqggldttk svltgtkdav
      961 stgltgavnl akgtvqtgvd tsktvltgtk dtvcsgvtga vnvakgtvqt gvdtaktvls
     1021 gakdavttgv tgavnvakgt vqtgvdaska vlmgtkdtvf sgvtgamsma kgavqggldt
     1081 tktvltgtkd avsaglmgsg nvatgathtg lstfqnwlps tpatswgglt ssrttdngge
     1141 qtalspqeap fsgistppdv lsvgpepawe aaattkglat dvatftqgaa pgredtglla
     1201 tthgpeeapr lamlqneleg lgdifhpmna eeqaqlaasq pgpkvlsaeq gsyfvrlgdl
     1261 gpsfrqrafe havshlqhgq fqardtlaql qdcfrlieka qqapegqprl dqgsgasaed
     1321 aavqeerdag vlsrvcgllr qlhtaysglv sslqglpael qqpvgrarhs lcelygivas
     1381 agsveelpae rlvqsregvh qawqgleqll eglqhnppls wlvgpfalpa ggq
//
LOCUS       XP_047295526             434 aa            linear   PRI 20-MAR-2023
DEFINITION  ran-binding protein 3 isoform X2 [Homo sapiens].
ACCESSION   XP_047295526
VERSION     XP_047295526.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439570.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..434
                     /product="ran-binding protein 3 isoform X2"
                     /calculated_mol_wt=46303
     Region          260..375
                     /region_name="RanBD_RanBP3"
                     /note="Ran-binding protein 3 Ran-binding domain; cd13180"
                     /db_xref="CDD:270001"
     Site            order(274,276..278,283..288,309,311,313..314,318..320,323,
                     325,329,333,341,343,354,358)
                     /site_type="other"
                     /note="putative RAN binding site [polypeptide binding]"
                     /db_xref="CDD:270001"
     CDS             1..434
                     /gene="RANBP3"
                     /coded_by="XM_047439570.1:59..1363"
                     /db_xref="GeneID:8498"
                     /db_xref="HGNC:HGNC:9850"
                     /db_xref="MIM:603327"
ORIGIN      
        1 madlaneeer ssgfrlkppt lihgqapsag lpsqkpkeqq rsvlrpavlq apqpkalsqt
       61 vpssgtngvs lpadctgavp aaspdtaawr spseaadeek epqknessna seeeacekkd
      121 patqqafvfg qnlrdrvkli nesvdeadme naghpsadtp tatnyflqyi ssslenstns
      181 adassnkfvf gqnmservls ppklnevssd anrenaaaes gsesssqeat pekeslaesa
      241 aaytkatark cllekvevit geeaesnvlq mqcklfvfdk tsqswvergr gllrlndmas
      301 tddgtlqsrl vmrtqgslrl ilntklwaqm qidkaseksi ritamdtedq gvkvflisas
      361 skdtgqlyaa lhhrilalrs rveqeqeakm papepgaaps needdsdddd vlapsgataa
      421 gagdegdgqt tgst
//
LOCUS       XP_005246334            1635 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-3(IV) chain isoform X1 [Homo sapiens].
ACCESSION   XP_005246334
VERSION     XP_005246334.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005246277.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1635
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1635
                     /product="collagen alpha-3(IV) chain isoform X1"
                     /calculated_mol_wt=158508
     Region          <62..>342
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <286..>583
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <678..>923
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <917..>1170
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <1120..>1407
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          1411..1517
                     /region_name="C4"
                     /note="C-terminal tandem repeated domain in type 4
                     procollagen; pfam01413"
                     /db_xref="CDD:426251"
     Region          1521..1631
                     /region_name="C4"
                     /note="C-terminal tandem repeated domain in type 4
                     procollagen; pfam01413"
                     /db_xref="CDD:426251"
     CDS             1..1635
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3"
                     /coded_by="XM_005246277.4:104..5011"
                     /db_xref="GeneID:1285"
                     /db_xref="HGNC:HGNC:2204"
                     /db_xref="MIM:120070"
ORIGIN      
        1 msartaprpq vlllplllvl laaapaaskg cvckdkgqcf cdgakgekge kgfpgppgsp
       61 gqkgftgpeg lpgpqgpkgf pglpgltgsk gvrgisglpg fsgspglpgt pgntgpyglv
      121 gvpgcsgskg eqgfpglpgt lgypgipgaa glkgqkgapa keedieldak gdpglpgapg
      181 pqglpgppgf pgpvgppgpp gffgfpgamg prgpkghmge rvighkgerg vkgltgppgp
      241 pgtvivtltg pdnrtdlkge kgdkgamgep gppgpsglpg esygsekgap gdpglqgkpg
      301 kdgvpgfpgs egvkgnrgfp glmgedgikg qkgdigppgf rgpteyydty qekgdegtpg
      361 ppgprgargp qgpsgppgvp gspgssrpgl rgapgwpglk gskgergrpg kdamgtpgsp
      421 gcagspglpg spgppgppgd ivfrkgppgd hglpgylgsp gipgvdgpkg epgllctqcp
      481 yipgppglpg lpglhgvkgi pgrqgaaglk gspgspgntg lpgfpgfpga qgdpglkgek
      541 getlqpegqv gvpgdpglrg qpgrkgldgi pgtpgvkglp gpkgelalsg ekgdqgppgd
      601 pgspgspgpa gpagppgygp qgepglqgtq gvpgapgppg eagprgelsv stpvpgppgp
      661 pgppghpgpq gppgdqgfpg tkgslgcpgk mgepglpgkp glpgakgepa vampggpgtp
      721 gfpgergnsg ehgeiglpgl pglpgtpgne gldgprgdpg qpgppgeqgp pgrciegprg
      781 aqglpglngl kgqqgrrgkt gpkgdpgipg ldrsgfpget gspgipghqg emgplgqrgy
      841 pgnpgilgpp gedgvigmmg fpgaigppgp pgnpgtpgqr gspgipgvkg qrgtpgakge
      901 qgdkgnpgps eishvigdkg epglkgfagn pgekgnrgvp gmpglkglkg lpgpagppgp
      961 rgdlgstgnp gepglrgipg smgnmgmpgs kgkrgtlgfp gragrpglpg ihglqgdkge
     1021 pgysegtrpg ppgptgdpgl pgdmgkkgem gqpgppghlg pagpegapgs pgspglpgkp
     1081 gphgdlgfkg ikgllgppgi rgppglpgfp gspgpmgirg dqgrdgipgp agekgetgll
     1141 rappgprgnp gaqgakgdrg apgfpglpgr kgamgdagpr gptgiegfpg ppglpgaiip
     1201 gqtgnrgppg srgspgapgp pgppgshvig ikgdkgsmgh pgpkgppgta gdmgppgrlg
     1261 apgtpglpgp rgdpgfqgfp gvkgekgnpg flgsigppgp igpkgppgvr gdpgtlkiis
     1321 lpgspgppgt pgepgmqgep gppgppgnlg pcgprgkpgk dgkpgtpgpa gekgnkgskg
     1381 epgpagsdgl pglkgkrgds gspatwttrg fvftrhsqtt aipscpegtv plysgfsflf
     1441 vqgnqrahgq dlgtlgsclq rfttmpflfc nvndvcnfas rndysywlst palmpmnmap
     1501 itgralepyi srctvcegpa iaiavhsqtt dippcphgwi slwkgfsfim ftsagsegtg
     1561 qalaspgscl eefraspfle chgrgtcnyy snsysfwlas lnpermfrkp ipstvkagel
     1621 ekiisrcqvc mkkrh
//
LOCUS       XP_011509038             395 aa            linear   PRI 20-MAR-2023
DEFINITION  cation channel sperm-associated targeting subunit tau isoform X13
            [Homo sapiens].
ACCESSION   XP_011509038
VERSION     XP_011509038.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011510736.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..395
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..395
                     /product="cation channel sperm-associated targeting
                     subunit tau isoform X13"
                     /calculated_mol_wt=45096
     Region          84..>394
                     /region_name="ALS2CR11"
                     /note="Amyotrophic lateral sclerosis 2 candidate 11;
                     pfam15729"
                     /db_xref="CDD:434889"
     CDS             1..395
                     /gene="C2CD6"
                     /gene_synonym="ALS2CR11; SPGF68"
                     /coded_by="XM_011510736.3:49..1236"
                     /db_xref="GeneID:151254"
                     /db_xref="HGNC:HGNC:14438"
                     /db_xref="MIM:619776"
ORIGIN      
        1 meppqetnrp fstldnrsgq vqvlsatpll qrnpysspdi mhikgseass vpyalnqgtt
       61 alpknknqeg tghrllnmlr ktlkesdsee leitqetpnl vpfgdvvgcl gihikncrhf
      121 mpkislqhya nlfirisink avkctkmcsl lskndekntv ikfdevkyfs vqvprryddk
      181 rnnilleliq ydnrekrafl lgsvqihlye viqkgcfiee vqvlhgnifv crlevefmfs
      241 ygnfgygfsh qlkplqkite psmfmnlapp pertdpvtkv itpqtveypa flspdlnvtv
      301 gtpavqssnq psvvrleklq qqprerlekm kkeyrnlntw idkanylesi lmpklehkds
      361 eetnidease ntksnhpeee lenivgvggf ftkri
//
LOCUS       XP_047299504             573 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 138 isoform X13 [Homo
            sapiens].
ACCESSION   XP_047299504
VERSION     XP_047299504.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443548.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..573
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..573
                     /product="coiled-coil domain-containing protein 138
                     isoform X13"
                     /calculated_mol_wt=65541
     Region          <182..>345
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..573
                     /gene="CCDC138"
                     /coded_by="XM_047443548.1:53..1774"
                     /db_xref="GeneID:165055"
                     /db_xref="HGNC:HGNC:26531"
ORIGIN      
        1 meprvvkppg qdlvveslks ryglggscpd evkpppeydf snfyqskykr rtltspgdld
       61 iysgdkvgss lkysdeskhc rtplgslfkh vnvnclddel dsfhdlkkqe teeeliendy
      121 rvstskitkq sfkeiekval ptnttssrpr teccsdagds plkpvscpks kasdkrsllp
      181 hqisqiydel fqihlklqce taaqqkfaee lqkrerflle reqllfrhen alskikgvee
      241 evltrfqiik eqhdaevehl tevlkeknke tkrlrssfda lkelndtlkk qlneaseenr
      301 kidiqakrvq arldnlqrky efmtiqrlkg sshavhemks lkqekapvsk tykvplngqv
      361 yelltvfmdw isdhhlskvk heesgmdgkk pqlkfasqrn diqekcvkhs tmtstlrrlg
      421 edifkgvvtk giqdnspqhs venkpktaaf fkssnlplrf lstlivlktv tqeslqpfle
      481 acsnslffrt csvllrapkl dlqileklsi ilqklskiks nkklfelfti hlmlqeiqrt
      541 tnpehaflci nlnstlfnlg ltkcnslvss asp
//
LOCUS       XP_047301194            1341 aa            linear   PRI 20-MAR-2023
DEFINITION  alsin isoform X4 [Homo sapiens].
ACCESSION   XP_047301194
VERSION     XP_047301194.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445238.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1341
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1341
                     /product="alsin isoform X4"
                     /calculated_mol_wt=147412
     Region          <29..259
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          527..574
                     /region_name="RCC1"
                     /note="Regulator of chromosome condensation (RCC1) repeat;
                     pfam00415"
                     /db_xref="CDD:395335"
     Region          <528..>642
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          695..879
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cl02571"
                     /db_xref="CDD:445839"
     Site            order(697,701,802,834..835,838..839,841..842,845..846,
                     850..851,879)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          905..1010
                     /region_name="PH_alsin"
                     /note="Alsin Pleckstrin homology (PH) domain; cd13269"
                     /db_xref="CDD:241423"
     Region          1048..>1166
                     /region_name="PLN03185"
                     /note="phosphatidylinositol phosphate kinase; Provisional"
                     /db_xref="CDD:215619"
     Region          1172..>1272
                     /region_name="COG4642"
                     /note="Uncharacterized conserved protein [Function
                     unknown]"
                     /db_xref="CDD:226989"
     CDS             1..1341
                     /gene="ALS2"
                     /gene_synonym="ALS2CR6; ALSJ; IAHSP; PLSJ"
                     /coded_by="XM_047445238.1:118..4143"
                     /db_xref="GeneID:57679"
                     /db_xref="HGNC:HGNC:443"
                     /db_xref="MIM:606352"
ORIGIN      
        1 mdskkrsste aegskerglv hiwqagsfpi tperlpgwgg ktvlqaalgv khgvlltedg
       61 evysfgtlpw rsgpveicps spilenalvg qyvitvatgs fhsgavtdng vaymwgensa
      121 gqcavanqqy vpepnpvsia dseaspllav rilqlacgee htlalsisre iwawgtgcql
      181 glittafpvt kpqkvehlag rvvlqvacga fhslalvqcl psqdlkpvpe rcnqcsqlli
      241 tmtdkedhvi isdshccplg vtltesqaen hastalspst etldrqeevf entlvandqs
      301 vatelnavsa qitssdamss qqnvmgttei ssarnipsyp dtqavneylr klsdhsvred
      361 sehgekpvps qplleeaipn lhsppttsts alnslvvsca savgvrvaat yeagalslkk
      421 vmnfysttpc etgaqagssa igpeglkdsr eeqvkqesmq gkkssslvdi reeeteggsr
      481 rlslpgllsq vsprllrkaa rvktrtvvlt ptysgeadal lpslrtevwt wgkgkegqlg
      541 hgdvlprlqp lcvkcldgke vihleaggyh slaltaksqv yswgsntfgq lghsdfpttv
      601 prlakissen gvwsiaagrd yslflvdted fqpglyysgr qdptegdnlp enhsgsktpv
      661 llscsklgyi srvtagkdsy lalvdknimg yiaslhelat terrfyskls diksqilrpl
      721 lslenlgttt tvqllqevas rfsklcylig qhgaslssfl hgvkearslv ilkhsslfld
      781 syteyctsit nflvmggfql lakpaidfln knqellqdls evndentqlm eilntlfflp
      841 irrlhnyakv llklatcfev aspeyqklqd ssscyeclal hlgrkrkeae ytlgfwktfp
      901 gkmtdslrkp errllcessn ralslqhagr fsvnwfilfn dalvhaqfst hhvfplatlw
      961 aeplseeagg vnglkittpe eqftlisstp qektkwlrai sqavdqalrg msdlppygsg
     1021 ssvqrqeppi srsakytfyk dprlkdatyd grwlsgkphg rgvlkwpdgk mysgmfrngl
     1081 edgygeyrip nkamnkedhy vghwkegkmc gqgvysyasg evfegcfqdn mrhghgllrs
     1141 gkltssspsm figqwvmdkk agygvfddit rgekymgmwq ddvcqgngvv vtqfglyyeg
     1201 nfhlnkmmgn gvllseddti yegefsddwt lsgkgtltmp ngdyiegyfs gewgsgikit
     1261 gtyfkpslye sdkdrpkvlk lgnlavpade kwkavfdecw rqlgcegpgq gevwkawdni
     1321 avalttsrrq hrdslqdllw q
//
LOCUS       XP_047301387             635 aa            linear   PRI 20-MAR-2023
DEFINITION  serine protease 56 isoform X1 [Homo sapiens].
ACCESSION   XP_047301387
VERSION     XP_047301387.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445431.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 11% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..635
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..635
                     /product="serine protease 56 isoform X1"
                     /calculated_mol_wt=67497
     Region          105..335
                     /region_name="Tryp_SPc"
                     /note="Trypsin-like serine protease; Many of these are
                     synthesized as inactive precursor zymogens that are
                     cleaved during limited proteolysis to generate their
                     active forms. Alignment contains also inactive enzymes
                     that have substitutions of the catalytic triad...;
                     cd00190"
                     /db_xref="CDD:238113"
     Site            105
                     /site_type="active"
                     /note="cleavage site [active]"
                     /db_xref="CDD:238113"
     Site            order(145,191,286)
                     /site_type="active"
                     /db_xref="CDD:238113"
     Site            order(280,308,310)
                     /site_type="other"
                     /note="substrate binding sites [chemical binding]"
                     /db_xref="CDD:238113"
     CDS             1..635
                     /gene="PRSS56"
                     /gene_synonym="MCOP6"
                     /coded_by="XM_047445431.1:212..2119"
                     /db_xref="GeneID:646960"
                     /db_xref="HGNC:HGNC:39433"
                     /db_xref="MIM:613858"
ORIGIN      
        1 mllavllllp lpsswfahgh plytrlppsa lqvlsaqgtq alqaaqrsaq wainrvamei
       61 qhrshecrgs grprpqallq dppepgpcge rrpstanvtr ahgrivggsa appgawpwlv
      121 rlqlggqplc ggvlvaaswv ltaahcfvga pnellwtvtl aegsrgeqae evpvnrilph
      181 pkfdprtfhn dlalvqlwtp vspggsarpv clpqepqepp agtacaiagw galfedgpea
      241 eavrearvpl lstdtcrral gpglrpstml cagylaggvd scqgdsggpl tcsepgprpr
      301 evlfgvtswg dgcgepgkpg vytrvavfkd wlqeqmsaas ssrepscrel lawdppqelq
      361 adaarlcafy arlcpgsqga carlahqqcl qrrrrcgqfc spgpgrgaeg rgpgqpltaa
      421 ptpvrsaelr slahtllgll rnaqellgpr pglrrlapal alpapalres plhparelrl
      481 hsgsraagtr fpkrrpeprg eangcpglep lrqklaalqg ahawilqvps ehlamnfhev
      541 ladlgsktlt glfrawvrag lggrhvafsg lvglepatla rslprllvqa lqafrvaala
      601 egepegpwmd vgqgpglerk ghhplnpqvp parqp
//
LOCUS       XP_024308848            1945 aa            linear   PRI 20-MAR-2023
DEFINITION  tensin-1 isoform X7 [Homo sapiens].
ACCESSION   XP_024308848
VERSION     XP_024308848.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453080.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1945
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1945
                     /product="tensin-1 isoform X7"
                     /calculated_mol_wt=208342
     Region          79..237
                     /region_name="PTP_tensin-1"
                     /note="protein tyrosine phosphatase-like domain of
                     tensin-1; cd14560"
                     /db_xref="CDD:350408"
     Region          244..370
                     /region_name="PTEN_C2"
                     /note="C2 domain of PTEN tumor-suppressor protein;
                     pfam10409"
                     /db_xref="CDD:431265"
     Region          <692..1107
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <1201..1600
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1669..1784
                     /region_name="SH2_Tensin_like"
                     /note="Src homology 2 domain found in Tensin-like
                     proteins; cd09927"
                     /db_xref="CDD:198181"
     Site            order(1680,1698,1736,1738)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198181"
     Site            order(1737,1767)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198181"
     Region          1806..1939
                     /region_name="PTB_tensin"
                     /note="Tensin Phosphotyrosine-binding (PTB) domain;
                     cd01213"
                     /db_xref="CDD:269924"
     Site            order(1812,1898,1919)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269924"
     Site            order(1876..1881,1905,1928,1932)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269924"
     CDS             1..1945
                     /gene="TNS1"
                     /gene_synonym="MST091; MST122; MST127; MSTP091; MSTP122;
                     MSTP127; MXRA6; PPP1R155; TNS"
                     /coded_by="XM_024453080.2:566..6403"
                     /db_xref="GeneID:7145"
                     /db_xref="HGNC:HGNC:11973"
                     /db_xref="MIM:600076"
ORIGIN      
        1 mqvaapcvpp snhelvpitt enapknvvdk gegasrggnt rksledngst rvtpsvqphl
       61 qpirnmsvsr tmedsceldl vyvteriiav sfpstaneen frsnlrevaq mlkskhggny
      121 llfnlserrp ditklhakvl efgwpdlhtp alekicsick amdtwlnadp hnvvvlhnkg
      181 nrgrigvvia aymhysnisa sadqaldrfa mkrfyedkiv pigqpsqrry vhyfsgllsg
      241 sikmnnkplf lhhvimhgip nfeskggcrp flriyqamqp vytsgiynip gdsqtsvcit
      301 iepglllkgd illkcyhkkf rspardvifr vqfhtcaihd lgvvfgkedl ddafkddrfp
      361 eygkvefvfs ygpekiqgme hlengpsvsv dyntsdplir wdsydnfsgh rddgmegavr
      421 sdfdmkaqsf salsffpafl slsahclrtf ekqmgaphvm qrqkgprvvp wllsamqaca
      481 swfgglcikv vghtqgpldg slyakvkkkd slhgstgavn atrptlsatp nhvehtlsvs
      541 sdsgnstast ktdktdepvp gassataals pqekreldrl lsgfglerek qgamyhtqhl
      601 rsrpaggsav pssgrhvvpa qvhvnggala seretdildd elpnqdghsa gsmgtlssld
      661 gvtntseggy pealspltng ldksypmepm vngggypyes asragpahag htapmrpsys
      721 aqeglagyqr egphpawpqp vttshyahdp sgmfrsqsfs eaepqlppap vrggssreav
      781 qrglnswqqq qqqqqqprpp prqqerahle slvasrpspq plaetpipsl pefpraasqq
      841 eieqsietln mlmldlepas aaaplhksqs vpgawpgasp lssqplsgss rqshpltqsr
      901 sgyipsghsl gtpepapras lesvppgrsy spydyqpcla gpnqdfhsks passslpafl
      961 ptthsppgpq qppaslpglt aqpllspkea tsdpsrtpee eplnleglva hrvaaynarl
     1021 qgighsgsfp ppplhrlqss slsgvqarek qpaeppaplr rraasdgqye nqspeatspr
     1081 spgvrspvqc vspelaltia lnpggrpkep hlhsykeafe emegtspssp ppsgvrsppg
     1141 laktplsalg lkphnpadil lhptgvtrrr iqpdslsqei ipvnlflsfs ffalphlhhl
     1201 pffpaspssh lssrlpseed egkvvvrlse eprsyvesva rtavagpraq dsepksfsap
     1261 atqaygheip lrngtlggsf vspsplstss pilsadstsv gsfpsgessd qgprtptqpl
     1321 lesgfrsgsl gqpspsaqrn yqsssplptv gssysspdys lqhfssspes qaraqfsvag
     1381 vhtvpgspqa rhrtvgtntp pspgfgwrai npsmaapssp slshhqmmgp pgtgfhgstv
     1441 sspqssaatt pgspslcrhp agvyqvsglh nkvattpgsp slgrhpgahq gnlasglhsn
     1501 aiaspgspsl grhlggsgsv vpgspcldrh vayggystpe drrptlsrqs sasgyqapst
     1561 psfpvspayy pglsspatsp spdsaafrqg sptpalpekr rmsvgdrags lpnyatingk
     1621 vsspvasgms spsggstvsf shtlpdfsky smpdnspetr akvkfvqdts kywykpeisr
     1681 eqaiallkdq epgafiirds hsfrgaygla mkvsspppti mqqnkkgdmt helvrhflie
     1741 tgprgvklkg cpnepnfgsl salvyqhsii plalpcklvi pnrdptdesk dssgpansta
     1801 dllkqgaacn vlfvnsvdme sltgpqaisk atsetlaadp tpaativhfk vsaqgitltd
     1861 nqrklffrrh yplntvtfcd ldpqerkwmk teggapaklf gfvarkqgst tdnachlfae
     1921 ldpnqpasai vnfvskvmln agqkr
//
LOCUS       XP_024307830             454 aa            linear   PRI 20-MAR-2023
DEFINITION  GA-binding protein alpha chain isoform X1 [Homo sapiens].
ACCESSION   XP_024307830
VERSION     XP_024307830.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024452062.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..454
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..454
                     /product="GA-binding protein alpha chain isoform X1"
                     /calculated_mol_wt=51164
     Region          40..119
                     /region_name="GABP-alpha"
                     /note="GA-binding protein alpha chain; pfam11620"
                     /db_xref="CDD:402975"
     Region          168..254
                     /region_name="SAM_PNT-GABP-alpha"
                     /note="Sterile alpha motif (SAM)/Pointed domain of
                     GA-binding protein (GABP) alpha chain; cd08534"
                     /db_xref="CDD:176084"
     Region          319..403
                     /region_name="ETS"
                     /note="erythroblast transformation specific domain;
                     smart00413"
                     /db_xref="CDD:197710"
     CDS             1..454
                     /gene="GABPA"
                     /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
                     RCH04A07"
                     /coded_by="XM_024452062.2:594..1958"
                     /db_xref="GeneID:2551"
                     /db_xref="HGNC:HGNC:4071"
                     /db_xref="MIM:600609"
ORIGIN      
        1 mtkreaeeli eieidgteka ecteesiveq tyapaecvsq aidinepign lkklleprlq
       61 csldaheicl qdiqldpers lfdqgvktdg tvqlsvqvis yqgiepklni leivkpadtv
      121 evvidpdahh aeseahlvee aqvitldgtk hittisdets eqvtrwaaal egyrkeqerl
      181 gipydpiqws tdqvlhwvvw vmkefsmtdi dlttlnisgr elcslnqedf fqrvprgeil
      241 wshlellrky vlasqeqqmn eivtidqpvq iipasvqsat pttikvinss akaakvqrap
      301 risgedrssp gnrtgnngqi qlwqfllell tdkdardcis wvgdegefkl nqpelvaqkw
      361 gqrknkptmn yeklsralry yydgdmickv qgkrfvykfv cdlktligys aaelnrlvte
      421 ceqkklakmq lhgiaqpvta valataslqt ekdn
//
LOCUS       XP_011528175             420 aa            linear   PRI 20-MAR-2023
DEFINITION  EMI domain-containing protein 1 isoform X8 [Homo sapiens].
ACCESSION   XP_011528175
VERSION     XP_011528175.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011529873.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..420
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..420
                     /product="EMI domain-containing protein 1 isoform X8"
                     /calculated_mol_wt=42961
     Region          34..101
                     /region_name="EMI"
                     /note="EMI domain; pfam07546"
                     /db_xref="CDD:429530"
     Region          <352..>391
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     CDS             1..420
                     /gene="EMID1"
                     /gene_synonym="EMI5; EMU1"
                     /coded_by="XM_011529873.4:144..1406"
                     /db_xref="GeneID:129080"
                     /db_xref="HGNC:HGNC:18036"
                     /db_xref="MIM:608926"
ORIGIN      
        1 mggprawall clglllpggg aawsigaapf sgrrnwcsyv vtrtischvq ngtylqrvlq
       61 ncpwpmscpg ssyrtvvrpt ykvmykivta rewrccpghs gvsceevaas saslepmwsg
      121 stmrrmalrp tafsgclncs kvselterlk vleakmtmlt vieqpvpptp atpedpaplw
      181 gpppaqgspg dgglqglpga iesvrvpllp rndqvgawgl pgptgpkgda gsrgpmgmrg
      241 ppgpqgppgs pgragavgtp gergppgppg ppgppgppap vgppharisq hgdpllsntf
      301 tetnnhwpqg ptgppgppgp mgppgppgpt gvpgspghig ppgptgpkgi sghpgekger
      361 glrgepgpqg sagqrgepgp kgdpgekshw geglhqlrea lkilaervli letmiglygs
//
LOCUS       XP_047306031             308 aa            linear   PRI 20-MAR-2023
DEFINITION  glycine receptor subunit beta isoform X2 [Homo sapiens].
ACCESSION   XP_047306031
VERSION     XP_047306031.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047450075.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..308
                     /product="glycine receptor subunit beta isoform X2"
                     /calculated_mol_wt=35207
     Region          79..265
                     /region_name="LGIC_ECD_GlyR_beta"
                     /note="extracellular domain of glycine receptor beta
                     subunit; cd19010"
                     /db_xref="CDD:349811"
     Site            order(87,106,108,162,164,172)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:349811"
     Site            order(90,93,98..99,102,106,108,131,142..146,148..149,151,
                     153..154,156..158,160,162,164,176..178,204..205,227,
                     229..230,265)
                     /site_type="other"
                     /note="pentamer interface [polypeptide binding]"
                     /db_xref="CDD:349811"
     Region          183..197
                     /region_name="Cys-loop"
                     /note="Cys-loop [structural motif]"
                     /db_xref="CDD:349811"
     Region          268..>304
                     /region_name="LGIC_TM"
                     /note="transmembrane domain of Cys-loop
                     neurotransmitter-gated ion channels; cl38911"
                     /db_xref="CDD:453886"
     Region          271..291
                     /region_name="TM1 helix"
                     /note="TM1 helix [structural motif]"
                     /db_xref="CDD:349850"
     CDS             1..308
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /coded_by="XM_047450075.1:178..1104"
                     /db_xref="GeneID:2743"
                     /db_xref="HGNC:HGNC:4329"
                     /db_xref="MIM:138492"
ORIGIN      
        1 mkfllttafl ilislwveea yskeksskkg kgkkkqylcp sqqsaedlar vpanstsnil
       61 nrllvsydpr irpnfkgipv dvvvnifins fgsiqettmd yrvniflrqk wndprlklps
      121 dfrgsdaltv dptmykclwk pdlffaneks anfhdvtqen illfifrdgd vlvsmrlsit
      181 lscpldltlf pmdtqrckmq lesfgyttdd lrfiwqsgdp vqlekialpq fdikkediey
      241 gnctkyykgt gyytcvevif tlrrqvgfym mgvyaptlli vvlswlsfwi npdasaarvp
      301 lgllipgs
//
LOCUS       XP_006715038            1361 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase EHMT2 isoform X2 [Homo sapiens].
ACCESSION   XP_006715038
VERSION     XP_006715038.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006714975.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_006715038.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 10% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1361
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1361
                     /product="histone-lysine N-methyltransferase EHMT2 isoform
                     X2"
                     /calculated_mol_wt=147791
     Region          <126..382
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <396..504
                     /region_name="2A1904"
                     /note="K+-dependent Na+/Ca+ exchanger; TIGR00927"
                     /db_xref="CDD:273344"
     Region          564..693
                     /region_name="EHMT_ZBD"
                     /note="Zinc-binding domain of euchromatic histone lysine
                     methyltransferases EHMT1 and EHTM2; cd20905"
                     /db_xref="CDD:411018"
     Region          767..963
                     /region_name="ANKYR"
                     /note="Ankyrin repeat [Signal transduction mechanisms];
                     COG0666"
                     /db_xref="CDD:223738"
     Site            order(830,834..835,838..840,842..843,847,850,859,894,896,
                     900..901,904..906,908..909,913,916,926,928,930,934..935,
                     938..940,942..943,947,950,959)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          830..859
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          894..926
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          928..959
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          968..999
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          <979..>1040
                     /region_name="PLN03192"
                     /note="Voltage-dependent potassium channel; Provisional"
                     /db_xref="CDD:215625"
     Region          1001..1032
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1099..1337
                     /region_name="SET_EHMT2"
                     /note="SET domain (including pre-SET and post-SET domains)
                     found in euchromatic histone-lysine N-methyltransferase 2
                     (EHMT2) and similar proteins; cd10533"
                     /db_xref="CDD:380931"
     Site            order(1199..1201,1225,1228..1229,1231,1234..1239,1242,
                     1260..1264,1272,1274,1304..1305,1308..1309,1312..1313,
                     1317..1320)
                     /site_type="active"
                     /db_xref="CDD:380931"
     Site            order(1199..1201,1235..1236,1260..1264,1305)
                     /site_type="other"
                     /note="SAM binding site"
                     /db_xref="CDD:380931"
     Site            order(1225,1228..1229,1231,1234,1237,1239,1249,1308..1309,
                     1313)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:380931"
     Site            order(1266,1319,1321,1326)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:380931"
     CDS             1..1361
                     /gene="EHMT2"
                     /gene_synonym="BAT8; C6orf30; G9A; GAT8; KMT1C; NG36"
                     /coded_by="XM_006714975.2:134..4219"
                     /db_xref="GeneID:10919"
                     /db_xref="HGNC:HGNC:14129"
                     /db_xref="MIM:604599"
ORIGIN      
        1 mlrgcngagg pgrdlqqsrg papgadegtr vwevggvgte arvqppaape watgagapga
       61 rvrgtrgrpp gwgaagaggv gargprglgd kggaaraagr rgrgrgaeap pppppllsap
      121 emrglprgrg lmrargrgra appgsrgrgr ggphrgrgrp rsllslpraq aswtpqlstg
      181 ltsppvpclp sqgeapaemg allleketrg atervhgslg dtprseetlp katpdslepa
      241 gpsspasvtv tvgdegadtp vgatpligde senlegdgdl rggrillgha tksfpsspsk
      301 ggscpsrakm smtgagkspp svqslamrll smpgaqgaaa agsepppatt spegqpkvhr
      361 arktmskpgn gqppvpekrp peiqhfrmsd dvhslgkvts dlakrrklns ggglseelgs
      421 arrsgevtlt kgdpgsleew etvvgddfsl yydsysvder vdsdskseve alteqlseee
      481 eeeeeeeeee eeeeeeeeee edeesgnqsd rsgssgrrka kkkwrkdspw vkpsrkrrkr
      541 epprakeprg vsndtsslet ergfeelplc scrmeapkid riseraghkc matesvdgel
      601 sgcnaailkr etmrpssrva lmvlcethra rmvkhhccpg cgyfctagtf lechpdfrva
      661 hrfhkacvsq lngmvfcphc gedaseaqev tiprgdgvtp pagtaapapp plsqdvpgra
      721 dtsqpsarmr ghgeprrppc dpladtidss gpsltlpngg clsavglplg pgrealekal
      781 viqeserrkk lrfhprqlyl svkqgelqkv ilmlldnldp nfqsdqqskr tplhaaaqkg
      841 sveichvllq aganinavdk qqrtplmeav vnnhlevary mvqrggcvys keedgstclh
      901 haakignlem vslllstgqv dvnaqdsggw tpiiwaaehk hievirmllt rgadvtltdn
      961 vserlveeen iclhwasftg saaiaevlln arcdlhavny hgdtplhiaa resyhdcvll
     1021 flsrganpel rnkegdtawd ltpersdvwf alqlnrklrl gvgnrairte kiicrdvarg
     1081 yenvpipcvn gvdgepcped ykyisencet stmnidrnit hlqhctcvdd csssnclcgq
     1141 lsircwydkd grllqefnki epplifecnq acscwrnckn rvvqsgikvr lqlyrtakmg
     1201 wgvralqtip qgtficeyvg elisdaeadv reddsylfdl dnkdgevyci daryygnisr
     1261 finhlcdpni ipvrvfmlhq dlrfpriaff ssrdirtgee lgfdygdrfw dikskyftcq
     1321 cgsekckhsa eaialeqsrl arldphpell pelgslppvn t
//
LOCUS       XP_047274337             242 aa            linear   PRI 20-MAR-2023
DEFINITION  BTB/POZ domain-containing protein KCTD20 isoform X3 [Homo sapiens].
ACCESSION   XP_047274337
VERSION     XP_047274337.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418381.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..242
                     /product="BTB/POZ domain-containing protein KCTD20 isoform
                     X3"
                     /calculated_mol_wt=27935
     Region          <3..41
                     /region_name="BTB_POZ"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain superfamily; cl38908"
                     /db_xref="CDD:453885"
     Region          103..>142
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     CDS             1..242
                     /gene="KCTD20"
                     /gene_synonym="C6orf69; dJ108K11.3"
                     /coded_by="XM_047418381.1:411..1139"
                     /db_xref="GeneID:222658"
                     /db_xref="HGNC:HGNC:21052"
                     /db_xref="MIM:615932"
ORIGIN      
        1 mkdyyktgii ncpdgisipd lrdtcdylci nfdfntircq dlsallhels ndgahkqfdh
       61 yleelilpim vgcakkgere chivvltded svdwdedhpp pmgeeysqil yssklyrffk
      121 yienrdvakt vlkerglkni rigiegyptc kekikrrpgg rseviynyvq rpfiqmswek
      181 eegksrhvdf qcvrsksltn lvaagddvle dqeilmhhpp qvdeldrlna plsqmasndf
      241 qd
//
LOCUS       XP_011513166             450 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and SCAN domain-containing protein 26 isoform X3 [Homo
            sapiens].
ACCESSION   XP_011513166
VERSION     XP_011513166.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514864.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..450
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..450
                     /product="zinc finger and SCAN domain-containing protein
                     26 isoform X3"
                     /calculated_mol_wt=51876
     Region          23..129
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Region          205..225
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          256..276
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <261..440
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Site            order(261,263,265,267..268,271..272,275,289,291,295..296,
                     299..300,303,317,319,321,323..324,327..328,331)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          284..304
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          312..332
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          340..360
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          368..388
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(373,375,377,379..380,383..384,387,401,403,407..408,
                     411..412,415,429,431,433,435..436,439..440,443)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          396..416
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          424..444
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..450
                     /gene="ZSCAN26"
                     /gene_synonym="SRE-ZBP; SREZBP; ZNF187"
                     /coded_by="XM_011514864.2:378..1730"
                     /db_xref="GeneID:7741"
                     /db_xref="HGNC:HGNC:12978"
                     /db_xref="MIM:616474"
ORIGIN      
        1 matalgfklq gnskglgqep lckqfrqlry eettgpreal srlrelcqqw lqpethtkeq
       61 ilellvleqf liilpkelqa rvqehhpesr edvvvvledl qldlgetgqq vdpdqpkkqk
      121 ilveemaplk gvqeqqvrhe cevtkpekek geetriengk livvtdscgr vessgkisep
      181 meahnegsnl erhqakpkek ieykcsereq rfiqhldlie hasthtgkkl cesdvcqsss
      241 ltghkkvlsr ekghqchecg kafqrsshlv rhqkihlgek pyqcnecgkv fsqnaglleh
      301 lrihtgekpy lcihcgknfr rsshlnrhqr ihsqeepcec kecgktfsqa lllthhqrih
      361 shskshqcne cgkafsltsd lirhhrihtg ekpfkcnicq kafrlnshla qhvrihneek
      421 pyqcsecgea frqrsglfqh qryhhkdkla
//
LOCUS       XP_047275395             287 aa            linear   PRI 20-MAR-2023
DEFINITION  syntaxin-11 isoform X2 [Homo sapiens].
ACCESSION   XP_047275395
VERSION     XP_047275395.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419439.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..287
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..287
                     /product="syntaxin-11 isoform X2"
                     /calculated_mol_wt=33065
     Region          43..238
                     /region_name="Syntaxin"
                     /note="pfam00804"
                     /db_xref="CDD:425876"
     Region          207..273
                     /region_name="SNARE"
                     /note="SNARE motif; cl22856"
                     /db_xref="CDD:451431"
     Site            order(235,242,245)
                     /site_type="other"
                     /note="flanking leucine-zipper layers"
                     /db_xref="CDD:277192"
     Site            238
                     /site_type="active"
                     /note="zero layer [active]"
                     /db_xref="CDD:277192"
     CDS             1..287
                     /gene="STX11"
                     /gene_synonym="FHL4; HLH4; HPLH4"
                     /coded_by="XM_047419439.1:334..1197"
                     /db_xref="GeneID:8676"
                     /db_xref="HGNC:HGNC:11429"
                     /db_xref="MIM:605014"
ORIGIN      
        1 mkdrlaelld lskqydqqfp dgddefdsph edivfetdhi leslyrdird iqdenqllva
       61 dvkrlgkqna rfltsmrrls sikrdtnsia kaikargevi hcklramkel seaaeaqhgp
      121 hsavarisra qynaltltfq ramhdynqae mkqrdnckir iqrqleimgk evsgdqiedm
      181 feqgkwdvfs enlladvkga raalneiesr hrellrlesr irdvhelflq mavlvekqad
      241 tlnvielnvq ktvdytgqak aqvrkavqye eknpcrtlcc fccpclk
//
LOCUS       XP_006716337             728 aa            linear   PRI 20-MAR-2023
DEFINITION  disintegrin and metalloproteinase domain-containing protein 28
            isoform X6 [Homo sapiens].
ACCESSION   XP_006716337
VERSION     XP_006716337.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006716274.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..728
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..728
                     /product="disintegrin and metalloproteinase
                     domain-containing protein 28 isoform X6"
                     /calculated_mol_wt=81664
     Region          29..156
                     /region_name="Pep_M12B_propep"
                     /note="Reprolysin family propeptide; pfam01562"
                     /db_xref="CDD:426325"
     Region          204..397
                     /region_name="ZnMc_adamalysin_II_like"
                     /note="Zinc-dependent metalloprotease; adamalysin_II_like
                     subfamily. Adamalysin II is a snake venom zinc
                     endopeptidase. This subfamily contains other snake venom
                     metalloproteinases, as well as membrane-anchored
                     metalloproteases belonging to the ADAM family; cd04269"
                     /db_xref="CDD:239797"
     Site            order(339..340,343,349)
                     /site_type="active"
                     /db_xref="CDD:239797"
     Region          416..488
                     /region_name="Disintegrin"
                     /note="pfam00200"
                     /db_xref="CDD:425520"
     Region          493..620
                     /region_name="ACR"
                     /note="ADAM Cysteine-Rich Domain; smart00608"
                     /db_xref="CDD:214743"
     CDS             1..728
                     /gene="ADAM28"
                     /gene_synonym="ADAM 28; eMDC II; eMDCII; MDC-L; MDCL"
                     /coded_by="XM_006716274.2:82..2268"
                     /db_xref="GeneID:10863"
                     /db_xref="HGNC:HGNC:206"
                     /db_xref="MIM:606188"
ORIGIN      
        1 mlqgllpvsl llsvavsaik elpgvkkyev vypirlhplh kreakepeqq eqfetelkyk
       61 mtingkiavl ylkknknlla pgytetyyns tgkeittspq imddcyyqgh ilnekvsdas
      121 istcrglrgy fsqgdqryfi eplspihrdg qehalfkynp deknydstcg mdgvlwahdl
      181 qqnialpatk lvklkdrkvq ehekyieyyl vldngefkry nenqdeirkr vfemanyvnm
      241 lykklnthva lvgmeiwtdk dkikitpnas ftlenfskwr gsvlsrrkrh diaqlitate
      301 lagttvglaf mstmcspysv gvvqdhsdnl lrvagtmahe mghnfgmfhd dysckcpsti
      361 cvmdkalsfy iptdfsscsr lsydkffedk lsnclfnapl ptdiistpic gnqlvemged
      421 cdcgtseect niccdaktck ikatfqcalg eccekcqfkk agmvcrpakd ecdlpemcng
      481 ksgncpddrf qvngfpchhg kghclmgtcp tlqeqctelw gpgtevadks cynrneggsk
      541 ygycrrvddt lipckandtm cgklfcqggs dnlpwkgriv tfltcktfdp edtsqeigmv
      601 angtkcgdnk vcinaecvdi ekaykstncs skckghavcd helqcqceeg wippdcddss
      661 vvfrrllhcg wgavpngghf cggcygnpap elqrkaeers eatiyhwhqa tqteeetpdd
      721 esdeapcv
//
LOCUS       XP_047278040             344 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein kinase Blk isoform X5 [Homo sapiens].
ACCESSION   XP_047278040
VERSION     XP_047278040.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422084.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..344
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..344
                     /product="tyrosine-protein kinase Blk isoform X5"
                     /calculated_mol_wt=38482
     Region          62..115
                     /region_name="SH3_Blk"
                     /note="Src homology 3 domain of Blk Protein Tyrosine
                     Kinase; cd12009"
                     /db_xref="CDD:212942"
     Site            order(67,69,72..73,76,92..94,107,109,111..112)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212942"
     Region          120..219
                     /region_name="SH2_Src_Blk"
                     /note="Src homology 2 (SH2) domain found in B lymphoid
                     kinase (Blk); cd10371"
                     /db_xref="CDD:198234"
     Site            order(131,151,153..156,161,176,178,211)
                     /site_type="other"
                     /note="autoinhibitory site [polypeptide binding]"
                     /db_xref="CDD:198234"
     Site            order(131,151,176,178)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198234"
     Site            order(177,205)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198234"
     Region          232..>256
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..344
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /coded_by="XM_047422084.1:182..1216"
                     /db_xref="GeneID:640"
                     /db_xref="HGNC:HGNC:1057"
                     /db_xref="MIM:191305"
ORIGIN      
        1 mglvsskkpd kekpikekdk gqwsplkvsa qdkdapplpp lvvfnhltpp ppdehldedk
       61 hfvvalydyt amndrdlqml kgeklqvlkg tgdwwlarsl vtgregyvps nfvarvesle
      121 merwffrsqg rkeaerqlla pinkagsfli resetnkgaf slsvkdvttq gelikhykir
      181 cldeggyyis pritfpslqa lvqhyskkgd glcqrltlpc vrpapqnpwa qdeweiprqs
      241 lrlvrklgsg qfgevwmvlr gsedrgedth fteeevevqs rvvtagtayg ggragtesss
      301 pspevapsfv lclklaltms csgaltplsf ssprwkqevk rdep
//
LOCUS       XP_047278365             777 aa            linear   PRI 20-MAR-2023
DEFINITION  meckelin isoform X2 [Homo sapiens].
ACCESSION   XP_047278365
VERSION     XP_047278365.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422409.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..777
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..777
                     /product="meckelin isoform X2"
                     /calculated_mol_wt=88247
     Region          1..777
                     /region_name="Meckelin"
                     /note="Meckelin (Transmembrane protein 67); pfam09773"
                     /db_xref="CDD:430814"
     CDS             1..777
                     /gene="TMEM67"
                     /gene_synonym="JBTS6; MECKELIN; MKS3; NPHP11; TNEM67"
                     /coded_by="XM_047422409.1:23..2356"
                     /db_xref="GeneID:91147"
                     /db_xref="HGNC:HGNC:28396"
                     /db_xref="MIM:609884"
ORIGIN      
        1 msltsewfak ylqssaaacw vyanltscqa lgnmcvmnmn sydfatfdac glfqfifent
       61 aglstvhsis fwrqnlpwlf ygdqlglapq vlsstslptn fsfkgenqnt klkfvaasyd
      121 irgnflkwqt leggvlqlcp dtetrlnaay sfgttyqqnc eipiskilid fptpifydvy
      181 leytdenqhq yilavpvlnl nlqhnkifvn qdsnsgkwll trriflvdav sgrendlgtq
      241 prvirvatqi slsvhlvpnt ingniyppli tiaysdidik dansqsvkvs fsvtyemdhg
      301 eahvqtdial gvlgglavla sllktagwkr rigspmidlq tvvkflvyya gdlanvffii
      361 tvgtglywli ffkaqksvsv llpmpiqeer fvtyvgcafa lkalqflhkl isqitidvff
      421 idwerpkgkv lkavegeggv rsatvpvsiw rtyfvanewn eiqtvrkins lfqvltvlff
      481 levvgfknla lmdsssslsr nppsyiapys cilryavsaa lwlaigiiqv vffavfyerf
      541 iedkirqfvd lcsmsnisvf llshkcfgyy ihgrsvhgha dtnmeemnmn lkreaenlcs
      601 qrglvpntdg qtfeiaisnq mrqhydrihe tlirkngpar llsssastfe qsikayhmmn
      661 kflgsfidhv hkemdyfikd klllerilgm efmepmeksi fyndegysfs svlyygneat
      721 llifdllffc vvdlacqnfi lasfltylqq eifryirntv gqknlasktl vdqrfli
//
LOCUS       XP_011516749             871 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 245 isoform X2 [Homo sapiens].
ACCESSION   XP_011516749
VERSION     XP_011516749.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011518447.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..871
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..871
                     /product="transmembrane protein 245 isoform X2"
                     /calculated_mol_wt=96120
     Region          <586..832
                     /region_name="PerM"
                     /note="Predicted PurR-regulated permease PerM [General
                     function prediction only]; COG0628"
                     /db_xref="CDD:223701"
     CDS             1..871
                     /gene="TMEM245"
                     /gene_synonym="C9orf5; CG-2; CG2"
                     /coded_by="XM_011518447.2:35..2650"
                     /db_xref="GeneID:23731"
                     /db_xref="HGNC:HGNC:1363"
                     /db_xref="MIM:620252"
ORIGIN      
        1 madgggpkda pslrsspgpa prvpravgps ggggetprta alalrfdkpi kqafyntgav
       61 lfvclccgaa vlvyfileaf lrpllwavlc gtflhpfkss ltrlgrhwlq rlhrahtpiv
      121 laalllplcf vdygvealge qalrrrrlll llgaggplly glyclgsylg vqvllvhaat
      181 licrgldyfs slwiwtlvvg yvltvsfkwn asterylrav sipvwiillf hlaslagswr
      241 ipvflvivfl msvgtlyekq ngkessgael pgqvismaas tlanlaisit gyesssedqp
      301 stqpaeavdr gesaptlsts pspsspspts psptlgrrrp eigtflrkkk tsdiyfvslv
      361 waivvmqiwl nlwivqllpv piavwilkkl vihfgvvdfl ekryhvwwgi iesflkerqg
      421 alapwpivgl gkfllkvdsk miiwlekmld kiisifiifl lvigtlllal lltakvhqes
      481 vhmievtsnl inetlanhpe wanwlpeaqv vqralnsaan nvyqygrewi thklhkilgd
      541 kvnntaviek qvlelwdrly hswfvknvth sgrhkgqklh vsrqnswlgd ildwqdivsf
      601 vhenietfls ileslwivms rnvsllfttv ttlltilfys gtallnfvls liiflttlfy
      661 llsssdeyyk pvkwvisltp lsqpgpssni igqsveeair gvfdaslkma gfyglytwlt
      721 htmfginivf ipsalaailg avpflgtywa avpavldlwl tqglgckail llifhllpty
      781 fvdtaiysdi sggghpyltg lavaggayyl glegaiigpi llcilvvasn iysamlvspt
      841 nsvptpnqtp wpaqpqrtfr disedlkssv g
//
LOCUS       XP_047279387             582 aa            linear   PRI 20-MAR-2023
DEFINITION  atrial natriuretic peptide receptor 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047279387
VERSION     XP_047279387.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423431.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..582
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..582
                     /product="atrial natriuretic peptide receptor 2 isoform
                     X1"
                     /calculated_mol_wt=65764
     Region          53..327
                     /region_name="PK_GC-A_B"
                     /note="Pseudokinase domain of the membrane Guanylate
                     Cyclase receptors, GC-A and GC-B; cd14042"
                     /db_xref="CDD:270944"
     Region          <333..381
                     /region_name="HNOBA"
                     /note="Heme NO binding associated; pfam07701"
                     /db_xref="CDD:429606"
     Region          360..544
                     /region_name="CYCc"
                     /note="Adenylyl- / guanylyl cyclase, catalytic domain;
                     smart00044"
                     /db_xref="CDD:214485"
     Site            order(399,401..406,441,443..445,448,513..515,519..520,
                     523..524,561)
                     /site_type="active"
                     /note="nucleotidyl binding site [active]"
                     /db_xref="CDD:143636"
     Site            order(401,445)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:143636"
     Site            order(406,418,421..422,425,429,441..442,501,504,514..517,
                     520,561)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143636"
     CDS             1..582
                     /gene="NPR2"
                     /gene_synonym="AMD1; AMDM; ANPb; ANPRB; ECDM; GC-B; GCB;
                     GUC2B; GUCY2B; NPRB; NPRBi; SNSK"
                     /coded_by="XM_047423431.1:147..1895"
                     /db_xref="GeneID:4882"
                     /db_xref="HGNC:HGNC:7944"
                     /db_xref="MIM:108961"
ORIGIN      
        1 mfgvssflif rpyrklmlek elasmlwrir weelqfgnse ryhkgagsrl tlslrgssyg
       61 slmtahgkyq ifantghfkg nvvaikhvnk krieltrqvl felkhmrdvq fnhltrfiga
      121 cidppniciv teycprgslq dilendsinl dwmfryslin dlvkgmaflh nsiisshgsl
      181 kssncvvdsr fvlkitdygl asfrstaepd dshalyakkl wtapellsgn plpttgmqka
      241 dvysfgiilq eialrsgpfy legldlspke ivqkvrngqr pyfrpsidrt qlneelvllm
      301 ercwaqdpae rpdfgqikgf irrfnkeggt sildnlllrm eqyannlekl veertqayle
      361 ekrkaeally qilphsvaeq lkrgetvqae afdsvtiyfs divgftalsa estpmqvvtl
      421 lndlytcfda iidnfdvykv etigdaymvv sglpgrngqr hapeiarmal alldavssfr
      481 irhrphdqlr lrigvhtgpv cagvvglkmp ryclfgdtvn tasrmesngq alkihvsstt
      541 kdaldelgcf qlelrgdvem kgkgkmrtyw llgerkgppg ll
//
LOCUS       XP_047279528            1401 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF27 isoform X2 [Homo sapiens].
ACCESSION   XP_047279528
VERSION     XP_047279528.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423572.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1401
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1401
                     /product="kinesin-like protein KIF27 isoform X2"
                     /calculated_mol_wt=160153
     Region          4..342
                     /region_name="KISc_KIF4"
                     /note="Kinesin motor domain, KIF4-like subfamily; cd01372"
                     /db_xref="CDD:276823"
     Site            order(13,84,87,89..92,244)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276823"
     Site            order(294,297,300)
                     /site_type="other"
                     /note="microtubule interaction site [polypeptide binding]"
                     /db_xref="CDD:276823"
     Region          721..>1083
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          <936..1244
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     CDS             1..1401
                     /gene="KIF27"
                     /coded_by="XM_047423572.1:748..4953"
                     /db_xref="GeneID:55582"
                     /db_xref="HGNC:HGNC:18632"
                     /db_xref="MIM:611253"
ORIGIN      
        1 meeipvkvav rirpllckea lhnhqvcvrv ipnsqqviig rdrvftfdfv fgknstqdev
       61 yntcikplvl sliegynatv faygqtgsgk tytiggghia svvegqkgii praiqeifqs
      121 isehpsidfn vkvsyievyk edlrdllele tsmkdlhire dekgntvivg akechvesag
      181 evmsllemgn aarhtgttqm nehssrshai ftisicqvhk nmeaaedgsw ysprhivskf
      241 hfvdlagser vtktgntger fkesiqinsg llalgnvisa lgdprrkssh ipyrdakitr
      301 llkdslggsa ktvmitcvsp sssnfdesln slkyanrarn irnkptvnfs pesdrideme
      361 feikllreal qsqqagvsqt tqinregspd tnrihsleeq vaqlqgeclg yqccveeaft
      421 flvdlkdtvr lnekqqhklq ewfnmiqevr kavltsfrgi ggtasleegp qhvtvlqlkr
      481 elkkcqcvla adevvfnqke levkelknqv qmmvqenkgh avslkeaqkv nrlqnekiie
      541 qqllvdqlse eltklnlsvt ssakencgdg pdariperrp ytvpfdthlg hyiyipsrqd
      601 srkvhtsppm ysldrifagf rtrsqmllgh ieeqdkvlhc qfsdnsddee segqeksgtr
      661 crsrswiqkp dsvcslvels dtqdetqksd lenedlkidc lqesqelnlq klknserilt
      721 eakqkmrelt inikmkedli keliktgnda ksvskqyslk vtklehdaeq akvelietqk
      781 qlqelenkdl sdvamkvklq kefrkkmdaa klrvqvlqkk qqdskklasl siqnekrane
      841 leqsvdhmky qkiqlqrklr eenekrkqld avikrdqqki keiqlktgqe eglkpkaedl
      901 dacnlkrrkg sfgsidhlqk ldeqkkwlde evekvlnqrq eleeleadlk kreaivskke
      961 allqekshle nkklrssqal ntdslkistr lnlleqelse knvqlqtsta eektkiseqv
     1021 evlqkekdql qkrrhnvdek lkngrvlspe eehvlfqlee giealeaaie yrnesiqnrq
     1081 kslrasfhnl srgeanvlek laclspveir tilfryfnkv vnlreaerkq qlyneemkmk
     1141 vlerdnmvre lesaldhlkl qcdrrltlqq keheqkmqll lhhfkeqdge gimetfktye
     1201 dkiqqlekdl yfykktsrdh kkklkelvge airrqlapse yqeagdgvlk pegggmlsee
     1261 lkwasrpesm klsgreremd ssasslrtqp npqklwedip elppihssla ppsghmlgne
     1321 nktetddnqf tkshsrlssq iqvvgnvgrl hgvtpvklcr kelrqisale lslrrsslgv
     1381 gigsmaadsi evsrkprdlk t
//
LOCUS       XP_047279623            2567 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 462 isoform X1 [Homo sapiens].
ACCESSION   XP_047279623
VERSION     XP_047279623.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423667.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2567
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..2567
                     /product="zinc finger protein 462 isoform X1"
                     /calculated_mol_wt=291116
     Region          2054..2074
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2086..2110
                     /region_name="zf-H2C2_5"
                     /note="C2H2-type zinc-finger domain; pfam13909"
                     /db_xref="CDD:404746"
     Region          2088..2108
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(2093,2095,2097,2099..2100,2103..2104,2107,2122,
                     2126..2127,2132..2133,2137,2151,2153,2155,2157..2158,
                     2161..2162,2166)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          2117..2138
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2146..2167
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2317..2337
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2363..2383
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(2368,2370,2372..2373,2378..2379,2382,2399,
                     2402..2403,2406..2407,2410,2482,2484,2486,2488..2489,
                     2492..2493,2496)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          2391..2412
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2477..2497
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..2567
                     /gene="ZNF462"
                     /gene_synonym="WSKA; Zfp462; ZFPIP"
                     /coded_by="XM_047423667.1:2227..9930"
                     /db_xref="GeneID:58499"
                     /db_xref="HGNC:HGNC:21684"
                     /db_xref="MIM:617371"
ORIGIN      
        1 mevlqcdgcd frapsyedlk ahiqdvhtaf lqptdvaedn vnelrcgsvn asnqtevefs
       61 sikdefaiae dlsgqnatsl gtggyyghsp gyygqhiaan pkptnkffqc kfcvryfrsk
      121 nlliehtrkv hgaqaegsss gppvpgslny nimmhegfgk vfscqfctyk sprrariikh
      181 qkmyhknnlk ettapppapa pmpdpvvppv slqdpckelp aevversile smvkpltksr
      241 gnfccewcsy qtprrerwcd hmmkkhrsmv kilsslrqqq egtnlpdvpn ksapsptsns
      301 tyltmnaasr eipnttvsnf rgsmgnsimr pnssaskfsp msypqmkpks phnsglvnlt
      361 ersrygmtdm tnssadletn smlndsssde elneidseng lsamdhqtsg lsaeqlmgsd
      421 gnklletkgi pfrrfmnrfq cpfcpfltmh rrsisrhien ihlsgktavy kcdecpftck
      481 sslklgahkq chtgttsdwd avnsqsesis sslnegvvsy esssingrks gvmldplqqq
      541 qppqpppppp ppppsqpqpl qqpqppqlqp phqvppqpqt qppptqqpqp ptqaaplhpy
      601 kctmcnystt tlkglrvhqq hkhsfcdnlp kfegqpsslp lenetdshps ssntvkksqt
      661 silglssknn fvakasrkla ndfpldlspv kkrtrideia snlqskinqt kqqedavinv
      721 eddeeeeedn eveieveldr eeeptepiie vptsfsaqqi wvrdtsepqk epnfrnithd
      781 ynatngaeie ltlsedeedy ygsstnlkdh qvsntallnt qtpiygtehn sentdfgdsg
      841 rlyyckhcdf nnksarsvst hyqrmhpyik fsfryildpn dhsavyrcle cyidytnfed
      901 lqqhygehhp eamnvlnfdh sdliyrcrfc sytspnvrsl mphyqrmhpt vkinnamifs
      961 syvveqqegl ntesqtlrei lnsapknmat stpvargggl patfnkntpk tftpecenqk
     1021 dplvntvvvy dcdvcsfasp nmhsvlvhyq kkhpeekasy friqktmrmv svdrgsalsq
     1081 lsfevgapms pkmsnmgspp ppqppppdls telyyckhcs ysnrsvvgvl vhyqkrhpei
     1141 kvtakyirqa pptaammrgv egpqgsprpp apiqqlnrss serdgppven emffcqhcdy
     1201 gnrtvkgvli hyqkkhrdfk anadvirqht atirslcdrn qkkpascvlv spsnlerdkt
     1261 klralkcrqc sytspyfyal rkhikkdhpa lkatvtsimr wafldgliea gyhcewciys
     1321 htepnglllh yqrrhpehyv dytymatklw agpdpsppsl tmpaeaktyr crdcvfeavs
     1381 iwditnhyqa fhpwamngde svlldiikek davekpilss eelagpvnce nsiptpfpeq
     1441 eaecpedarl spekslqlas anpaisstpy qctvcqseyn nlhgllthyg kkhpgmkvka
     1501 adfaqdidin pgavykcrhc pyintrihgv lthyqkrhps ikvtaedfvh dveqsadisq
     1561 ndveetsrif kqgygayrck lcpythgtle klkihyekyh nqpefdvfsq sppklpvple
     1621 pemttevsps qvsiteeevg eepvstshfs tshlvshtvf rcqlckyfcs trkgiarhyr
     1681 ikhnnvraqp egknnlfkca lcaytnpirk glaahyqkrh didayythcl aasrtisdkp
     1741 nkviipsppk ddspqlseel rravekkkcs lcsfqsfskk givshymkrh pgvfpkkqha
     1801 sklggyftav yadehekptl meeeergnfe kaevegeaqe iewlpfrcik cfklsfstae
     1861 llcmhytdhh srdlkrdfii lgngprlqns tyqckhcdsk lqstaeltsh lnihneefqk
     1921 rakrqerrkq llskqkyadg afadfkqerp fghleevpki kerkvvgykc kfcvevhptl
     1981 raicnhlrkh vqygnvpavs aavkqeaddp ahlfldglea akdasgalvg rvdgehclld
     2041 gmledetrpg gyhcsqcdrv lmsmqglrsh ershlalamf tredkyscqy csfvsafrhn
     2101 ldrhmqthhg hhkpfrcklc sfkssynsrl kthilkahag ehaykcswcs fstmtisqlk
     2161 ehslkvhgka ltlprprivs llsshshhss qkatpaeeve dsndssysep pdvqqqlnhy
     2221 qsaalarnns rvspvplsga aagteqktea vlhcefcefs sgyiqsirrh yrdkhggkkl
     2281 fkckdcsfyt gfksaftmhv eaghsavpee gpkdlrcplc lyhtkykrnm idhivlhree
     2341 rvvpievcrs klskylqgvv frcdkctftc ssdeslqqhi ekhnelkpyk cqlcyyetkh
     2401 teeldshlrd ehkvsrnfel vgrvnldqle qmkekmesss sddedkeeem nskaedrelm
     2461 rfsdhgaaln tekrfpcefc grafsqgsew erhvlrhgma lndtkqvsre eihpkeimen
     2521 svkmpsieek eddeaigidf slknetvaic vvtadkslle naeakke
//
LOCUS       XP_047279844             870 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase EHMT1 isoform X22 [Homo
            sapiens].
ACCESSION   XP_047279844
VERSION     XP_047279844.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423888.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..870
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..870
                     /product="histone-lysine N-methyltransferase EHMT1 isoform
                     X22"
                     /calculated_mol_wt=93638
     Region          457..587
                     /region_name="EHMT_ZBD"
                     /note="Zinc-binding domain of euchromatic histone lysine
                     methyltransferases EHMT1 and EHTM2; cd20905"
                     /db_xref="CDD:411018"
     Region          685..779
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          685..711
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          717..746
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(748,750,754..755,758..760,762..763,767,770,779,781,
                     783,787..788,791..793,795..796,800,803,813,815,817,
                     821..822,825..827,829..830,834,837,846)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          748..779
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          753..846
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          781..813
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          815..846
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..870
                     /gene="EHMT1"
                     /gene_synonym="EHMT1-IT1; Eu-HMTase1; EUHMTASE1; FP13812;
                     GLP; GLP1; KLEFS1; KMT1D"
                     /coded_by="XM_047423888.1:54..2666"
                     /db_xref="GeneID:79813"
                     /db_xref="HGNC:HGNC:24650"
                     /db_xref="MIM:607001"
ORIGIN      
        1 maadegsaek qageahmaad getngscens dasshanaak htqdsarvnp qdgtntltri
       61 aengvserds eaakqnhvta ddfvqtsvig sngyilnkpa lqaqplrtts tlasslpgha
      121 aktlpggagk grtpsafpqt paappatlge gsadtedrkl papgadvkvh rarktmpksv
      181 vglhaaskdp revreardhk epkeeinkni sdfgrqqllp pfpslhqslp qnqcymattk
      241 sqtaclpfvl aaavsrkkkr rmgtyslvpk kktkvlkqrt viemfksith stvgskgekd
      301 lgasslhvng eslemdsded dseeleeddg hgaeqaaafp tedsrtskes mseadraqks
      361 sessikkkfl krkgktdspw ikparkrrrr srkkpsgalg sesykssags aeqtapgdst
      421 gymevsldsl dlrvkgilss qaeglangpd vletdglqev plcscrmetp ksreittlan
      481 nqcmatesvd helgrctnsv vkyelmrpsn kapllvlced hrgrmvkhqc cpgcgyfcta
      541 gnfmecqpes sishrfhkdc asrvnnasyc phcgeesska kevtiakadt tstvtpvpgq
      601 ekgsalegra dtttgsaagp plseddklqg aashvpegfd ptgpaglgrp tpglsqgpgk
      661 etlesalial dsekpkklrf hpkqlyfsar qgelqkvllm lvdgidpnfk mehqnkrspl
      721 haaaeaghvd ichmlvqaga nidtcsedqr tplmeaaenn hleavkylik agalvdpkda
      781 egstclhlaa kkghyevvqy llsngqmdvn cqddggwtpm iwateykhvd lvklllskgs
      841 dinirdnddg tmkrgalsrq keekreaeep
//
LOCUS       XP_016885082             146 aa            linear   PRI 20-MAR-2023
DEFINITION  protein EOLA2 isoform X2 [Homo sapiens].
ACCESSION   XP_016885082
VERSION     XP_016885082.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029593.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..146
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..146
                     /product="protein EOLA2 isoform X2"
                     /calculated_mol_wt=16310
     Region          6..108
                     /region_name="ASCH"
                     /note="The ASCH domain adopts a beta-barrel fold similar
                     to that of the PUA domain; smart01022"
                     /db_xref="CDD:214979"
     CDS             1..146
                     /gene="EOLA2"
                     /gene_synonym="CXorf40B"
                     /coded_by="XM_017029593.3:707..1147"
                     /db_xref="GeneID:541578"
                     /db_xref="HGNC:HGNC:17402"
ORIGIN      
        1 mkfgclsfrq pyagfvlngi ktvetrwrpl lssqrnctia vhiahrdweg dacrellver
       61 lgmtpaqiqa llrkgekfgr gviaglvdig etlqcpedlt pdevvelenq aaltnlkqky
      121 ltvisnprwl lepiprkggk dvfqnp
//
LOCUS       XP_047298224            1624 aa            linear   PRI 20-MAR-2023
DEFINITION  THO complex subunit 2 isoform X4 [Homo sapiens].
ACCESSION   XP_047298224
VERSION     XP_047298224.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442268.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1624
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1624
                     /product="THO complex subunit 2 isoform X4"
                     /calculated_mol_wt=185986
     Region          11..566
                     /region_name="THOC2_N"
                     /note="THO complex subunit 2 N-terminus; pfam16134"
                     /db_xref="CDD:435161"
     Region          568..646
                     /region_name="Thoc2"
                     /note="Transcription- and export-related complex subunit;
                     pfam11732"
                     /db_xref="CDD:432031"
     Region          878..1177
                     /region_name="Tho2"
                     /note="Transcription factor/nuclear export subunit protein
                     2; pfam11262"
                     /db_xref="CDD:431767"
     Region          1479..>1587
                     /region_name="U2AF_lg"
                     /note="U2 snRNP auxilliary factor, large subunit, splicing
                     factor; TIGR01642"
                     /db_xref="CDD:273727"
     CDS             1..1624
                     /gene="THOC2"
                     /gene_synonym="CXorf3; dJ506G2.1; hTREX120; MRX12; MRX35;
                     THO2; XLID12"
                     /coded_by="XM_047442268.1:31..4905"
                     /db_xref="GeneID:57187"
                     /db_xref="HGNC:HGNC:19073"
                     /db_xref="MIM:300395"
ORIGIN      
        1 maaaavvvpa ewiknweksg rgeflhlcri lsenkshdss tyrdfqqaly elsyhvikgn
       61 lkheqasnvl sdisefredm psiladvfci ldietnclee kskrdyftql vlaclylvsd
      121 tvlkerldpe tleslglikq sqqfnqksvk iktklfykqq kfnllreene gyakliaelg
      181 qdlsgsitsd lileniksli gcfnldpnrv ldvilevfec rpehddffis llesymsmce
      241 pqtlchilgf kfkfyqepng etpsslyrva avllqfnlid lddlyvhllp adncimdehk
      301 reiaeakqiv rkltmvvlss ekmderekek ekeeekvekp pdnqklglle allkigdwqh
      361 aqnimdqmpp yyaashklia laicklihit ieplyrrvgv pkgakgspvn alqnkrapkq
      421 aesfedlrrd vfnmfcylgp hlshdpilfa kvvrigksfm kefqsdgskq edkektevil
      481 scllsitdqv llpslslmdc nacmseelwg mfktfpyqhr yrlygqwkne tynshpllvk
      541 vkaqtidrak yimkrltken vkpsgrqigk lshsnptilf dyvcfeilsq iqkydnlitp
      601 vvdslkylts lnydvlayci iealanpeke rmkhddttis swlqslasfc gavfrkypid
      661 lagllqyvan qlkagksfdl lilkevvqkm agieiteemt meqleamtgg eqlkaeggyf
      721 gqirntkkss qrlkdalldh dlalplcllm aqqrngvifq eggekhlklv gklydqchdt
      781 lvqfggflas nlstedyikr vpsidvlcne fhtphdaaff lsrpmyahhi sskydelkks
      841 ekgskqqhkv hkyitscemv mapvheavvs lhvskvwddi spqfyatfws ltmydlavph
      901 tsyerevnkl kvqmkaiddn qemppnkkkk ekerctalqd klleeekkqm ehvqrvlqrl
      961 klekdnwlla kstknetitk flqlcifprc ifsaidavyc arfvelvhqq ktpnfstllc
     1021 ydrvfsdiiy tvasctenea srygrflccm letvtrwhsd ratyekecgn ypgfltilra
     1081 tgfdggnkad qldyenfrhv vhkwhykltk asvhcletge ythirniliv ltkilpwypk
     1141 vlnlgqaler rvhkicqeek ekrpdlyala mgysgqlksr ksymipenef hhkdppprna
     1201 vasvqngpgg gpssssigsa sksdesstee tdksrersqc gvkavnkass ttpkgnssng
     1261 nsgsnsnkav kendkekgke kekekkektp attpearvlg kdgkekpkee rpnkdekare
     1321 tkertpksdk ekekfkkeek akdekfkttv pnaeskstqe rerekepsre rdiakemksk
     1381 envkggektp vsgslkspvp rsdipepere qkrrkidthp spshsstvkv tailpkvplg
     1441 senyasspvi sihflqdsli elkessakly inhtppplsk skeremdkkd ldksrersre
     1501 rekkdekdrk erkrdhsnnd revppdltkr rkeengtmgv skhksespce spypnekdke
     1561 knkskssgke kgsdsfksek mdkissggkk esrhdkekie kkekrdssgg keekkhhkss
     1621 dkhr
//
LOCUS       XP_011542271            1410 aa            linear   PRI 20-MAR-2023
DEFINITION  lysine-specific demethylase 6A isoform X6 [Homo sapiens].
ACCESSION   XP_011542271
VERSION     XP_011542271.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011543969.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1410
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1410
                     /product="lysine-specific demethylase 6A isoform X6"
                     /calculated_mol_wt=154852
     Region          93..121
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(94,97..98,101..102,104,131,134..135,138..139,
                     141..142,165,171..172,175..176,179)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          106..401
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          129..159
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          164..194
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          205..233
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          243..278
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(285,288..289,292..293,295,319,322..323,326..327,
                     329..330,353,356..357,360..361,364)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          285..312
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          317..347
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          352..378
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1072..1136
                     /region_name="JmjC"
                     /note="A domain family that is part of the cupin
                     metalloenzyme superfamily; smart00558"
                     /db_xref="CDD:214721"
     Region          1106..1214
                     /region_name="JmjC"
                     /note="JmjC domain, hydroxylase; pfam02373"
                     /db_xref="CDD:396791"
     CDS             1..1410
                     /gene="KDM6A"
                     /gene_synonym="bA386N14.2; KABUK2; UTX"
                     /coded_by="XM_011543969.4:365..4597"
                     /db_xref="GeneID:7403"
                     /db_xref="HGNC:HGNC:12637"
                     /db_xref="MIM:300128"
ORIGIN      
        1 mkscgvslat aaaaaaafgd eekkmaagka sgeseeasps ltaeerealg gldsrlfgfv
       61 rfhedgartk allgkavrcy eslilkaegk vesdffcqlg hfnllledyp kalsayqryy
      121 slqsdywkna aflyglglvy fhynafqwai kafqevlyvd psfcrakeih lrlglmfkvn
      181 tdyesslkhf qlalvdcnpc tlsnaeiqfh iahlyetqrk yhsakeayeq llqtenlsaq
      241 vkatvlqqlg wmhhtvdllg dkatkesyai qylqkslead pnsgqswyfl grcyssigkv
      301 qdafisyrqs idkseasadt wcsigvlyqq qnqpmdalqa yicavqldhg haaawmdlgt
      361 lyescnqpqd aikcylnatr skscsntsal aarikylqac kphhpntepv lglsqtpisq
      421 qslplhmips sqvddlsspa krkrtssptk ntsdnwsggh avshppvqqq ahswcltpqk
      481 lqmrptgvaq vrstgipngp tadsslptns vsgqqpqlal trvpsvsqpg vrpacpgqpl
      541 angpfsaghv pcstsrtlgs tdtilignnh itgsgsngnv pylqrnaltl phnrtnltss
      601 aeepwknqls nstqglhkgq sshsagpnge rplsstgpsq hlqaagsgiq nqnghptlps
      661 nsvtqgaaln hlsshtatsg gqqgitltke skpsgniltv petsrhtget pnstasvegl
      721 pnhvhqmtad avcspshgds kspgllssdn pqlsallmgk annnvgtgtc dkvnnihpav
      781 htktdnsvas spssaistat pspksteqtt tnsvtslnsp hsglhtinge gmeesqspmk
      841 tdlllvnhkp spqiipsmsv siypssaevl kacrnlgkng lsnssilldk cppprppssp
      901 ypplpkdkln pptpsiylen krdaffpplh qfctnpnnpv tvirglagal kldlglfstk
      961 tlveannehm vevrtqllqp adenwdptgt kkiwhcesnr shttiakyaq yqassfqesl
     1021 reenekrshh kdhsdsests sdnsgrrrkg pfktikfgtn idlsddkkwk lqlheltklp
     1081 afvrvvsagn llshvghtil gmntvqlymk vpgsrtpghq ennnfcsvni nigpgdcewf
     1141 vvpegywgvl ndfceknnln flmgswwpnl edlyeanvpv yrfiqrpgdl vwinagtvhw
     1201 vqaigwcnni awnvgpltac qyklaverye wnklqsvksi vpmvhlswnm arnikvsdpk
     1261 lfemikifsl spnfraekcl rdhlvqplrs ngepeplrft geycllrtlk qcqtlreali
     1321 aagkeiiwhg rtkeepahyc sicevevfdl lfvtnesnsr ktyivhcqdc arktsgnlen
     1381 fvvleqykme dlmqvydqft lapplpsass
//
LOCUS       XP_054185429             212 aa            linear   PRI 20-MAR-2023
DEFINITION  glutathione S-transferase theta-4 isoform X5 [Homo sapiens].
ACCESSION   XP_054185429
VERSION     XP_054185429.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329454.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187633.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..212
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     Protein         1..212
                     /product="glutathione S-transferase theta-4 isoform X5"
                     /calculated_mol_wt=23783
     CDS             1..212
                     /gene="GSTT4"
                     /gene_synonym="GSTTP1; HS322B1A"
                     /coded_by="XM_054329454.1:258..896"
                     /db_xref="GeneID:25774"
                     /db_xref="HGNC:HGNC:26930"
ORIGIN      
        1 msscvlglas lkwrqsesdg iadgtqalra sghhhskeyi dinplrklps lkdgkfilse
       61 srqeyrdlag qvalecsllf pplpnpgqll ipkitgeevs aekmehavee vknslqlfee
      121 yflqdkmfit gnqisladlv avvemmqpma anynvflnss klaewrmqve lnigsglfre
      181 ahdrlmqlad wdfstldsmv kenisellkk sr
//
LOCUS       XP_054185829            1031 aa            linear   PRI 20-MAR-2023
DEFINITION  SKI2 subunit of superkiller complex protein isoform X2 [Homo
            sapiens].
ACCESSION   XP_054185829
VERSION     XP_054185829.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329854.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_113891.3) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1031
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1031
                     /product="SKI2 subunit of superkiller complex protein
                     isoform X2"
                     /calculated_mol_wt=113815
     CDS             1..1031
                     /gene="SKIC2"
                     /gene_synonym="170A; DDX13; HLP; SKI2; SKI2W; SKIV2;
                     SKIV2L; SKIV2L1; THES2"
                     /coded_by="XM_054329854.1:19..3114"
                     /db_xref="GeneID:6499"
                     /db_xref="HGNC:HGNC:10898"
                     /db_xref="MIM:600478"
ORIGIN      
        1 mmeterlvlp ppdpldlplr avelgctghw ellnlpgape sslphglppc apdlqqeaeq
       61 lflsspawlp lhgvehsark wqrktdpwsl lavlgapvps dlqaqrhptt gqilgykevl
      121 lentnlsatt slslrrppgp asqslwgnpt qypfwpggmd eptitdlntr eeaeeeidfe
      181 kdlltippgf kkgmdfapkd cptpapglls lscmlepldl gggdedenea vgqpggprgd
      241 tvsaspcsap larassledl vlkeastavs tpeapeppsq eqwaipvdat spvgdfyrli
      301 pqpafqwafe pdvfqkqail hlerhdsvfv aahtsagktv vaeyaialaq khmtrtiyts
      361 pikalsnqkf rdfrntfgdv glltgdvqlh peasclimtt eilrsmlysg sdvirdlewv
      421 ifdevhyind vergvvweev limlpdhvsi illsatvpna lefadwigrl krrqiyvist
      481 vtrpvplehy lftgnssktq gelfllldsr gafhtkgyya aveakkerms khaqtfgakq
      541 pthqggpaqd rgvylsllas lrtraqlpvv vftfsrgrcd eqasgltsld lttsseksei
      601 hlflqrclar lrgsdrqlpq vlhmsellnr glgvhhsgil pilkeiveml fsrglvkvlf
      661 atetfamgvn mpartvvfds mrkhdgstfr dllpgeyvqm agragrrgld ptgtvillck
      721 grvpemadlh rmmmgkpsql qsqfrltytm ilnllrvdal rvedmmkrsf sefpsrkdsk
      781 aheqalaelt krlgaleepd mtgqlvdlpe yyswgeelte tqhmiqrrim esvnglksls
      841 agrvvvvknq ehhnalgvil qvssnstsrv fttlvlcdkp lsqdpqdrgp ataevpypdd
      901 lvgfklflpe gpcdhtvvkl qpgdmaaitt kvlrvngeki ledfskrqqp kfkkdpplaa
      961 vttavqellr laqahpagpp tldpvndlql kdmsvveggl rarkleeliq gaqcvhsprf
     1021 paqplssvhp c
//
LOCUS       XP_054188457            1289 aa            linear   PRI 20-MAR-2023
DEFINITION  liprin-alpha-1 isoform X5 [Homo sapiens].
ACCESSION   XP_054188457
VERSION     XP_054188457.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332482.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_021160005.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1289
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.3"
     Protein         1..1289
                     /product="liprin-alpha-1 isoform X5"
                     /calculated_mol_wt=145151
     CDS             1..1289
                     /gene="PPFIA1"
                     /gene_synonym="LIP.1; LIP1; LIPRIN"
                     /coded_by="XM_054332482.1:226..4095"
                     /db_xref="GeneID:8500"
                     /db_xref="HGNC:HGNC:9245"
                     /db_xref="MIM:611054"
ORIGIN      
        1 mmcevmptis eaegppgggg ghgsgspsqp dadshfeqlm vsmleerdrl ldtlretqet
       61 laltqgklhe vgherdslqr qlntalpqef aaltkelnvc reqllereee iaelkaernn
      121 trlllehlec lvsrherslr mtvvkrqaqs pagvssevev lkalkslfeh hkaldekvre
      181 rlrvalercs lleeelgath kelmilkeqn nqkktltdgv ldinheqent pstsgkrssd
      241 gslsheedla kvielqeiis kqsreqsqmk erlaslsshv teleedldta rkdlikseem
      301 ntklqrdvre amaqkedmee rittlekryl aaqreatsvh dlndklenei ankdsmhrqt
      361 edknrqlqer lelaeqklqq tlrkaetlpe veaelaqrva alsksdllss gssaakeakl
      421 leltsklrka eerhgnieer lrqmeaqlee knqelqrarq rekmneehnk rlsdtvdkll
      481 sesnerlqlh lkermaaled knsllreves akkqleetqh dkdqlvlnie alraeldhmr
      541 lrgaslhhgr phlgsvpdfr fpmadghtds ystsavlrrp qkgrlaalrd epskvqtlne
      601 qdweraqqas vlanvaqafe sdadvsdged drdtllssvd llspsgqada htlammlqeq
      661 ldainkeirl iqeekenteq raeeiesrvg sgsldnlgrf rsmssippyp asslassspp
      721 gsgrstprri phsparevdr lgvmtlpspd sfliqtsgph qsvvysstsp psstpcysds
      781 sqhaqpsdlr khrrklppsr eevrddktti kcetsppssp ralrldrlhk galhtvshed
      841 irdirnstgs qdgpvsnpss snssqdslhk apkkkgikss igrlfgkkek grpgqtgkea
      901 lgqagvsetd nssqdalgls klggqaeknr klqkkhelle earrqglpfa qwdgptvvvw
      961 lelwvgmpaw yvaacranvk sgaimsalsd teiqreigis nplhrlklrl aiqeimslts
     1021 psapptsrtt tgnvwlthee metlaatpqt edeegswaqt laygdmnhew ignewlpslg
     1081 lpqyrsyfme clvdarmldh ltkkdlrgql kmvdsfhrns fqcgimclrr lnydrkeler
     1141 kreesqseik dvlvwsndrv irwilsiglk eyannliesg vhgallalde tfdfsalall
     1201 lqiptqntqa ravlerefnn llvmgtdrrf dedddksfrr apswrkkfrp kdirglaags
     1261 aetlpanfrv tssmsspsmq pkkmqmdgm
//
LOCUS       XP_054190212             328 aa            linear   PRI 20-MAR-2023
DEFINITION  tudor domain-containing protein 10 isoform X6 [Homo sapiens].
ACCESSION   XP_054190212
VERSION     XP_054190212.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334237.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..328
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..328
                     /product="tudor domain-containing protein 10 isoform X6"
                     /calculated_mol_wt=35695
     CDS             1..328
                     /gene="TDRD10"
                     /coded_by="XM_054334237.1:57..1043"
                     /db_xref="GeneID:126668"
                     /db_xref="HGNC:HGNC:25316"
ORIGIN      
        1 mkflaaclal cdtirvgvlg dssqphegrs lgpacclcwh vwsllrssqp plmllvsmal
       61 pilvelsaeg vgsgeapdah cfrtkvleka sgegfgktaa iiqlapkapv dlceteklra
      121 affavplemr gsflvlllre cfqdlswlal ihsvrgeagl lvtsivpktp ffwamhvtea
      181 lhqnmqalfs tlaqaeeqqp ylegstvmrg trclaeyhlg dyghawnrcw vldrvdtwav
      241 vmfidfgqla tipvqslrsl dsddfwtipp ltqpfmlekd ilssyevvhr ilkgkitgal
      301 nsavtapasn lavvppllpl gclqqaaa
//
LOCUS       XP_054190640             669 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 17 isoform X2 [Homo sapiens].
ACCESSION   XP_054190640
VERSION     XP_054190640.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334665.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..669
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..669
                     /product="coiled-coil domain-containing protein 17 isoform
                     X2"
                     /calculated_mol_wt=72563
     CDS             1..669
                     /gene="CCDC17"
                     /coded_by="XM_054334665.1:146..2155"
                     /db_xref="GeneID:149483"
                     /db_xref="HGNC:HGNC:26574"
ORIGIN      
        1 mdshsgepal lpcgtcdmvf rssallatht qrfcighptq emtfgaqasv atepqraavv
       61 pqehqgvpqe pqglpdqqas rsalkrltee emrpwitevp rvfagpwtrs earpqspmse
      121 avgspserlr alfrtrarrv aemeaqsral qlrgegegdg grgprtssal avwlklarag
      181 sdsaripsel srrlqvvact rggmsrlfgl eqeirelqae agrtrgalev lgariqelqa
      241 epgnplssrr eaelyspvqk anpgtlaaei ralreayird ggrdpgvlgq iwqlqveasa
      301 lelqrsqtrr gragatsgel pvveaenrrl eaeilalqmq rgraplgpqd lrllgdaslq
      361 pkgrrdppll pppvapllpp lpgfsepqlp gtmtrnlgld shfllptsdm lgpapydpga
      421 glvifydflr gleaswiwvq lrtglardgr dtgrttalpp alclppppap gpmgncaila
      481 srqpvprlpp sssvslvcel qvwqglawar apqpkawvsl glfdqdqrvl sgrwrlplra
      541 lpldpslslg qlngipqvsv vrrdwayskv qvqyhfispq agqaelflrl vnardaavqt
      601 laeinpasvh eyqypppvss tssleanflt pavgfadppp rteeplsgvk drdeglgphh
      661 ssdlppvsf
//
LOCUS       XP_054195119             819 aa            linear   PRI 20-MAR-2023
DEFINITION  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X6
            [Homo sapiens].
ACCESSION   XP_054195119
VERSION     XP_054195119.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339144.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..819
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..819
                     /product="SH3-containing GRB2-like protein 3-interacting
                     protein 1 isoform X6"
                     /calculated_mol_wt=87885
     CDS             1..819
                     /gene="SGIP1"
                     /coded_by="XM_054339144.1:194..2653"
                     /db_xref="GeneID:84251"
                     /db_xref="HGNC:HGNC:25412"
                     /db_xref="MIM:611540"
ORIGIN      
        1 mmeglkkrtr kafgirkkek dtdstgspdr dgipsphepp ynskaecare ggkkvskksn
       61 gapngfyaei dwerynspel deegysirpe epgstkgkhf yssseseeee eshkkfniki
      121 kplqskdilk naatvdelka signialsps pvgaikrnls seevarprrs tptpeliskk
      181 ppddttalap lfgpplesaf deqktevlld qpeiwgsgqp inpsmespkl trpfptgtpp
      241 plppknvpat pprtgsplti gpgndqsate vkieklpsin dldsifgpvl spksvavnae
      301 ekwvhfsdts pehvtpeltp rekvvsppat pdnpadspap gplgppgptg ppgppgpprn
      361 vlsplnleev qkkvaeqtfi kddyletiss pkdfglgqra tpppppppty rtvvsspgpg
      421 sgpgpgttsg assparpatp lvpcrsttpp pppprppsrp klppgkpgvg dvsrpfsppi
      481 hssspppiap laraestssi sstnslsaat tptveneqps lvwfdrgkfy ltfegssrgp
      541 spltmgaqdt lpvaaaftet vnayfkgadp skcivkitge mvlsfpagit rhfannpspa
      601 altfrvinfs rlehvlpnpq llccdntqnd antkefwvnm pnlmthlkkv seqkpqatyy
      661 nvdmlkyqvs aqgiqstpln lavnwrceps stdlridyky ntdamttava lnnvqflvpi
      721 dggvtklqav lppavwnaeq qrilwkipdi sqksenggvg sllarfqlse gpskpsplvv
      781 qftsegstls gcdielvgag yrfslikkrf aagkyladn
//
LOCUS       XP_054220672             652 aa            linear   PRI 20-MAR-2023
DEFINITION  (E2-independent) E3 ubiquitin-conjugating enzyme FATS isoform X3
            [Homo sapiens].
ACCESSION   XP_054220672
VERSION     XP_054220672.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364697.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..652
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..652
                     /product="(E2-independent) E3 ubiquitin-conjugating enzyme
                     FATS isoform X3"
                     /calculated_mol_wt=72486
     CDS             1..652
                     /gene="C10orf90"
                     /gene_synonym="bA422P15.2; FATS"
                     /coded_by="XM_054364697.1:262..2220"
                     /db_xref="GeneID:118611"
                     /db_xref="HGNC:HGNC:26563"
                     /db_xref="MIM:617735"
ORIGIN      
        1 missivisqm idenksrenr aslplpcaia qsrahhakqs lanrsgvnih rafallpgrl
       61 gipapsderg peaelppkee rpcggprrgf asititarrv gpparalvwg tagdslcpkc
      121 raedtlfqap palangahpg rhqrsfacte fsrnssvvrl kvpeahtglc errkywvtha
      181 ddketsfspd tplsgksplv fsscvhlrvs qqcpdsiyyv dkslsvpiep pqiaspkmhr
      241 svlslnlncs shrltadgvd glvnrepise alkqellegd qdlvgqrwnp glqeshlket
      301 pslrrvhlgt gacpwsgsfp lentelanvg anqvtvrkge kdhtthchas dhanqlsihi
      361 pgwsyravht kvfsgsskrq qgevcmtvsa ppveqkptrh flpigdssps ddclsrdlse
      421 pterrhqsfl kprilfpgfl cplqdvcasl qedngvqies kfpkgdytcc dlvvkikeck
      481 ksedpttpep spaapspapr dgagspglse dcsesqqtpa rsltlqeale vrkpqfisrs
      541 qerlkklehm vqqrkaqrke dlrqkqsllp irtskkqfti phplsdnlfk pkerciseke
      601 mhmrskriyd nlpevkkkke eqrkrvilqs nrlraevfkk qlldqllqrn av
//
LOCUS       XP_054221564             483 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA polymerase lambda isoform X4 [Homo sapiens].
ACCESSION   XP_054221564
VERSION     XP_054221564.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365589.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..483
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..483
                     /product="DNA polymerase lambda isoform X4"
                     /calculated_mol_wt=53406
     CDS             1..483
                     /gene="POLL"
                     /gene_synonym="BETAN; POLKAPPA"
                     /coded_by="XM_054365589.1:114..1565"
                     /db_xref="GeneID:27343"
                     /db_xref="HGNC:HGNC:9184"
                     /db_xref="MIM:606343"
ORIGIN      
        1 mdprgilkaf pkrqkihada sskvlakipr reegeeaeew lsslrahvvr tgigrarael
       61 fekqivqhgg qlcpaqgpgv thivvdegmd yeralrllrl pqlppgaqlv ksawlslclq
      121 errlvdvagf sifipsryld hpqpskaeqd asippgthea llqtalsppp pptrpvsppq
      181 kakeapntqa qpisddeasd geetqeacsi pgigkrmaek iieilesghl rkldhisesv
      241 pvlelfsniw gagtktaqmw yqqgfrsled irsqaslttq qaiglkhysd flermpreea
      301 teieqtvqka aqafnsgllc vacgsyrrgk atcgdvdvli thpdgrshrg ifsrlldslr
      361 qegfltddlv sqeengqqqk ylgvcrlpgp grrhrrldii vvpysefaca llyftgsahf
      421 nrsmralakt kgmslsehal stavvrnthg ckvgpgrvlp tptekdvfrl lglpyrepae
      481 rdw
//
LOCUS       XP_054224023             182 aa            linear   PRI 20-MAR-2023
DEFINITION  ras-related protein R-Ras2 isoform X1 [Homo sapiens].
ACCESSION   XP_054224023
VERSION     XP_054224023.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368048.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..182
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..182
                     /product="ras-related protein R-Ras2 isoform X1"
                     /calculated_mol_wt=21129
     CDS             1..182
                     /gene="RRAS2"
                     /gene_synonym="NS12; TC21"
                     /coded_by="XM_054368048.1:71..619"
                     /db_xref="GeneID:22800"
                     /db_xref="HGNC:HGNC:17271"
                     /db_xref="MIM:600098"
ORIGIN      
        1 mtklgsgear lhirsyfvtd ydptiedsyt kqcviddraa rldildtagq eefgamreqy
       61 mrtgegfllv fsvtdrgsfe eiykfqrqil rvkdrdefpm ilignkadld hqrqvtqeeg
      121 qqlarqlkvt ymeasakirm nvdqafhelv rvirkfqeqe cppspeptrk ekdkkgchcv
      181 if
//
LOCUS       XP_054226381            2335 aa            linear   PRI 20-MAR-2023
DEFINITION  neuron navigator 2 isoform X34 [Homo sapiens].
ACCESSION   XP_054226381
VERSION     XP_054226381.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370406.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2335
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2335
                     /product="neuron navigator 2 isoform X34"
                     /calculated_mol_wt=251696
     CDS             1..2335
                     /gene="NAV2"
                     /gene_synonym="HELAD1; POMFIL2; RAINB1; STEERIN2; UNC53H2"
                     /coded_by="XM_054370406.1:300..7307"
                     /db_xref="GeneID:89797"
                     /db_xref="HGNC:HGNC:15997"
                     /db_xref="MIM:607026"
ORIGIN      
        1 msvmlwrweq nnttmkliyt dwanhylaks ghkrlikdlq qdvtdgvlla qiiqvvanek
       61 iedingcpkn rsqmienida clnflaakgi niqglsaeei rngnlkailg lffslsrykq
      121 qqqqpqkqhl ssplppavsq vagapsqcqa gtpqqqvpvt pqapcqphqp aphqqskaqa
      181 emqsrlpgpt arvsaagsea ktrggsttan nrrsqsfnny dkskpvtspp pppsshekep
      241 lassasshpg msdnapasle sgssstptnc stssaipqpg aatkpwrsks lsvkhsatvs
      301 mlsvkppgpe aprptpeamk papnnqksml eklklfnskg gskagegpgs rdtscerlet
      361 lpsfeeseel eaasrmlttv gpassspkia lkgiaqrtfs raltnkkssl kgnekekekq
      421 qrekdkeksk dlakrasvte rldlkeepke dpsgaavpem pkksskiasf ipkggklnsa
      481 kkepmapshs gipkpgmksm pgkspsapap skegersrsg klssglpqqk pqldgrhsss
      541 ssslassegk gpggttlnhs issqtvsgsv gttqttgsnt vsvqlpqpqq qynhpntatv
      601 apflyrsqtd tegnvtaess stgvsvepsh ftktgqpale eltgedpear rlrtvkniad
      661 lrqnleetms slrgtqvths tlettfdtnv ttemsgrsil sltgrptpls wrlgqssprl
      721 qagdapsmgn gyppranasr fintesgryv ysaplrrqla srgssvchvd vsdkagdemd
      781 legismdapg ymsdgdvlsk nirtdditsg ymtdgglgly trrlnrlpdg mavvretlqr
      841 ntslglgdad swddsssvss gisdtidnls tddintsssi ssyantpass rknldvqtda
      901 ekhsqverns lwsgddvkks dggsdsgikm epgskwrrnp sdvsdesdks tsgkknpvis
      961 qtgswrrgmt aqvgitmprt kasapagalk tpgtgktdda kvsekgrlsp kasqvkrsps
     1021 dagrssgdes kkplpsssrt ptanansfgf kkqsgsaagl amitasgvtv tsrsatlgki
     1081 pkssalvsrs agrkssmdga qnqddgylal ssrtnlqyrs lprpsksnsr ngagnrssts
     1141 sidsnissks aglpvpklre psktalgssl pglvnqtdke kgissdnesv ascnsvkvnp
     1201 aaqpvsspaq tslqpgakyp dvasptlrrl fggkptkqvp iataenmkns vvisnphatm
     1261 tqqgnldsps gsgvlssgss splysknvdl nqsplassps sahsapsnsl twgtnassss
     1321 avskdglgfq svsslhtsce sidislssgg vpshnsstgl iasskddslt pfvrtnsvkt
     1381 tlsesdphld rntlpkkglr ytptsqlrtq edakewlrsh sagglqdtaa nspfssgssv
     1441 tspsgtrfnf sqlaspttvt qmslsnptml rthslsnadg qydpytdsrf rnssmsldek
     1501 srtmsrsgsf rdgfeevhgs slslvsstss vystpeekcq seirklrrel dasqekvsal
     1561 ttqltanahl vaafeqslgn mtirlqsltm taeqkdseln elrktiellk kqnaaaqaai
     1621 ngvintpeln ckgngtaqsa dlrirrqhss dsvssinsat shssvgsnie sdskkkkrkn
     1681 wlrssfkqaf gkkkspksas shsdieemtd sslpsspklp hngstgstpl lrnshsnsli
     1741 secmdseaet vmqlrnelrd kemkltdirl ealssahqld qlreamnrmq seieklkaen
     1801 drlksesqgs gcsrapsqvs isasprqsmg lsqhslnlte stsldmlldd tgecsarkeg
     1861 grhvkivvsf qeemkwkeds rphlfligci gvsgktkwdv ldgvvrrlfk eyiihvdpvs
     1921 qlglnsdsvl gysigeikrs ntsetpellp cgylvgentt isvtvkglae nsldslvfes
     1981 lipkpilqry vslliehrri ilsgpsgtgk tylanrlsey ivlregrelt dgviatfnvd
     2041 hksskelrqy lsnladqcns ennavdmplv iildnlhhvs slgeifngll nckyhkcpyi
     2101 igtmnqatss tpnlqlhhnf rwvlcanhte pvkgflgrfl rrklmeteis grvrnmelvk
     2161 iidwipkvwh hlnrfleahs ssdvtigprl flscpidvdg srvwftdlwn ysiipyllea
     2221 ireglqlygr rapwedpakw vmdtypwaas pqqhewppll qlrpedvgfd gysmpregst
     2281 skqmppsdae gdplmnmlmr lqeaanyssp qsydsdsnsn shhddildss lestl
//
LOCUS       XP_054232702             281 aa            linear   PRI 20-MAR-2023
DEFINITION  L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X4 [Homo
            sapiens].
ACCESSION   XP_054232702
VERSION     XP_054232702.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376727.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..281
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..281
                     /product="L-2-hydroxyglutarate dehydrogenase,
                     mitochondrial isoform X4"
                     /calculated_mol_wt=30852
     CDS             1..281
                     /gene="L2HGDH"
                     /gene_synonym="C14orf160; L2HGA"
                     /coded_by="XM_054376727.1:97..942"
                     /db_xref="GeneID:79944"
                     /db_xref="HGNC:HGNC:20499"
                     /db_xref="MIM:609584"
ORIGIN      
        1 maidcphtgi vdyrqvalsf aqdfqeaggs vltnfevkgi emakespsrs idgmqypivi
       61 kntkgeeirc qyvvtcagly sdriselsgc tpdprivpfr gdylllkpek cylvkgniyp
      121 vpdsrfpflg vhftprmdgs iwlgpnavla fkregyrpfd fsatdvmdii insgliklas
      181 qnfsygvtem ykacflgatv kylqkfipei tisdilrgpa gvraqaldrd gnlvedfvfd
      241 agvgdignri lhvrnapspa atssiaisgm iadevqqrfe l
//
LOCUS       XP_054234424            1076 aa            linear   PRI 20-MAR-2023
DEFINITION  atos homolog protein A isoform X1 [Homo sapiens].
ACCESSION   XP_054234424
VERSION     XP_054234424.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378449.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1076
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1076
                     /product="atos homolog protein A isoform X1"
                     /calculated_mol_wt=121509
     CDS             1..1076
                     /gene="ATOSA"
                     /gene_synonym="FAM214A; KIAA1370"
                     /coded_by="XM_054378449.1:479..3709"
                     /db_xref="GeneID:56204"
                     /db_xref="HGNC:HGNC:25609"
                     /db_xref="MIM:620168"
ORIGIN      
        1 mkpdrdtlde yfeydaeefl vslalliteg rtpecsvkgr tesfhcppaq scypvttkhe
       61 csdklaqcrq arrtrsevtl lwknnlpimv emmllpdccy sddgpttegi dlndpaikqd
      121 alllerwile pvprqngdrf ieektlllav rsfvffsqls awlsvshgai prnilyrisa
      181 advdlqwnfs qtpiehvfpv pnvshnvalk vsvqslprqs nypvltcsih tniglyekri
      241 qqhklkthqh hnpneaeqcg tnssqrlcsk qtwtmapesv lhaksgpspe ytaavknikl
      301 ypgtgsksdh gtsqanilgf sgigdiksqe tsvrtlksfs mvdssisnrq sfwqsagetn
      361 pligsliqer qeiiariaqh lihcdpstsh vsgrpfntqe ssslhsklfr vsqenenvgk
      421 gkeafsmtfg spefsspedt negkirlkpe tprsetcisn dfyshmpvge tnpligsllq
      481 erqdviaria qhlehidpta shiprqsfnm hdsssvaskv frssyedknl lkknkdessv
      541 sishtkcsll gdisdgknlv pnkcftsfkn nskekcslkh qtrnqcqnnp seiiqstyqe
      601 tqnkssslsa ssilsqhken nldltsrfke qemsngidkq ysncttidkq ictnkykeki
      661 inenynpkff gnlqsddskk ndskikvtvl emseylnkye smssnkdskr pktceqntql
      721 nsienylnkd negfkckksd qlkneqdkqe dptneksqny sqrrsikdcl stceqpknte
      781 vlrttlkhsn vwrkhnfhsl dgtstrafhp qtglpllssp vpqrktqsgc fdldssllhl
      841 ksfssrsprp clnieddpdi hekpflsssa ppitslsllg nfeesvlnyr fdplgivdgf
      901 taevgasgaf cpthltlpve vsfysvsddn apspymgvit leslgkrgyr vppsgtiqvt
      961 lfnpnktvvk mfvviydlrd mpanhqtflr qrtfsvpvkq evkrsvnken irhteerllr
     1021 ylihlrfqss ksgkiylhrd vrllfsrksm evdsgaayel ksytesptnp qfsprc
//
LOCUS       XP_054236101             294 aa            linear   PRI 20-MAR-2023
DEFINITION  glycine rich extracellular protein 1 isoform X15 [Homo sapiens].
ACCESSION   XP_054236101
VERSION     XP_054236101.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380126.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..294
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..294
                     /product="glycine rich extracellular protein 1 isoform
                     X15"
                     /calculated_mol_wt=29967
     CDS             1..294
                     /gene="GREP1"
                     /gene_synonym="G029442; LA16c-380H5.1; LA16c-380H5.3;
                     LINC00514"
                     /coded_by="XM_054380126.1:357..1241"
                     /db_xref="GeneID:283875"
                     /db_xref="HGNC:HGNC:27549"
ORIGIN      
        1 mkaqepvlta qnrfgfgagl ggnvkplkpg ygkrlragaf pgagtqpeyg hgngpgvqpg
       61 lgagmkpqmp glgapngygp grgragvpgg perrpwvphl lpfsspgylg vmkaqkpgag
      121 egmkpqkpgy tpgtwlgllp glrgtlkpqk sghghengpw pgpcnarvap mllprlptpg
      181 vpsdkeggwg lksqppsavq ngklpghqpp ngygpgaepg fngglepqki gqagvlwnsr
      241 wptlqawgag lkpgyqagde yaearsqpgg pdvkrgsngq lgngyggrcp lgkc
//
LOCUS       XP_054236236             813 aa            linear   PRI 20-MAR-2023
DEFINITION  integrin alpha-D isoform X12 [Homo sapiens].
ACCESSION   XP_054236236
VERSION     XP_054236236.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380261.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..813
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..813
                     /product="integrin alpha-D isoform X12"
                     /calculated_mol_wt=87530
     CDS             1..813
                     /gene="ITGAD"
                     /gene_synonym="ADB2; CD11D"
                     /coded_by="XM_054380261.1:27..2468"
                     /db_xref="GeneID:3681"
                     /db_xref="HGNC:HGNC:6146"
                     /db_xref="MIM:602453"
ORIGIN      
        1 mtfgtvllls vlasyhgfnl dveeptifqe daggfgqsvv qfggsrlvvg aplevvaanq
       61 tgrlydcaaa tgmcqpiplh irpeavnmsl gltlaastng srllacgptl hrvcgensys
      121 kgsclllgsr weiiqtvpda tpecphqemd ivflidgsgs idqndfnqmk gfvqavmgqf
      181 egtdtlfalm qysnllkihf tftqfrtsps qqslvdpivq lkgltftatg iltvvtqlfh
      241 hkngarksak kilivitdgq kykdpleysd vipqaekagi iryaigvgha fqgptarqel
      301 ntissappqd hvfkvdnfaa lgsiqkqlqe kiyavegtqs rasssfqhem sqegfstalt
      361 mslpspgils sqdglflgav gsfswsggaf lyppnmsptf inmsqenvdm rdsylgyste
      421 lalwkgvqnl vlgapryqht gkaviftqvs rqwrkkaevt gtqigsyfga slcsvdvdsd
      481 gstdliliga phyyeqtrgg qvsvcplprg qrvqwqcdav lrgeqghpwg rfgaaltvlg
      541 dvnedklidv aigapgeqen rgavylfhga sesgispshs qriassqlsp rlqyfgqals
      601 ggqdltqdgl mdlavgargq vlllrslpvl kvgvamrfsp vevakavyrc weekpsalea
      661 gdatvcltiq kssldqlgdi qssvrfdlal dpgrltsrai fnetknptlt rrktlglgih
      721 cetlklllpv rtlgsgkger ggaqgwpgap pfsaerglcg gcgephhsap qlltgerahp
      781 lppepascag rgltrplhcf splreelwar wpl
//
LOCUS       XP_054169947             260 aa            linear   PRI 20-MAR-2023
DEFINITION  PSME3-interacting protein isoform X2 [Homo sapiens].
ACCESSION   XP_054169947
VERSION     XP_054169947.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313972.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..260
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..260
                     /product="PSME3-interacting protein isoform X2"
                     /calculated_mol_wt=29446
     CDS             1..260
                     /gene="PSME3IP1"
                     /gene_synonym="C16orf94; CDA018; CDA10; FAM192A; NIP30;
                     PIP30"
                     /coded_by="XM_054313972.1:2051..2833"
                     /db_xref="GeneID:80011"
                     /db_xref="HGNC:HGNC:29856"
                     /db_xref="MIM:617766"
ORIGIN      
        1 migcfimdgg ddgnliikkr fvseaelder rkrrqeewek vrkpedpeec peevydprsl
       61 yerlqeqkdr kqqeyeeqfk fknmvrglde detnfldevs rqqeliekqr reeelkelke
      121 yrnnlkkvgi sqenkkevek kltvkpietk nkfsqaklla gavkhksses gnsvkrlkpd
      181 pepddknqep ssckslgnts lsgpsihcps aavcigilpg lgaysgssds esssdsegti
      241 natgkivssi frtntfleap
//
LOCUS       XP_054171808             191 aa            linear   PRI 20-MAR-2023
DEFINITION  NF-kappa-B inhibitor-interacting Ras-like protein 2 isoform X1
            [Homo sapiens].
ACCESSION   XP_054171808
VERSION     XP_054171808.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315833.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..191
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..191
                     /product="NF-kappa-B inhibitor-interacting Ras-like
                     protein 2 isoform X1"
                     /calculated_mol_wt=21377
     CDS             1..191
                     /gene="NKIRAS2"
                     /gene_synonym="kappaB-Ras2; KBRAS2"
                     /coded_by="XM_054315833.1:460..1035"
                     /db_xref="GeneID:28511"
                     /db_xref="HGNC:HGNC:17898"
                     /db_xref="MIM:604497"
ORIGIN      
        1 mgksckvvvc gqasvgktsi leqllygnhv vgsemietqe diyvgsietd rgvreqvrfy
       61 dtrglrdgae lprhcfsctd gyvlvystds resfqrvell kkeidkskdk kevtivvlgn
      121 kcdlqeqrrv dpdvaqhwak sekvklwevs vadrrsllep fvylaskmtq pqsksafpls
      181 rknkgsgsld g
//
LOCUS       XP_054173205             319 aa            linear   PRI 20-MAR-2023
DEFINITION  2-oxoglutarate and iron-dependent oxygenase domain-containing
            protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054173205
VERSION     XP_054173205.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317230.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..319
                     /product="2-oxoglutarate and iron-dependent oxygenase
                     domain-containing protein 3 isoform X1"
                     /calculated_mol_wt=35515
     CDS             1..319
                     /gene="OGFOD3"
                     /gene_synonym="C17orf101"
                     /coded_by="XM_054317230.1:102..1061"
                     /db_xref="GeneID:79701"
                     /db_xref="HGNC:HGNC:26174"
ORIGIN      
        1 mapqrraatk apegngaaer rnrsstkkdr aprevqrlwq rpwlrtaglg agfvltalll
       61 wsslgaddgv aevlarrgev vagrfievpc sedydshrrf egctprkcgr gvtdvvitre
      121 eaerirsvae kglslggsdg gasildlhsg alsvgkhfvn lyryfgdkiq nifseedfrl
      181 yrevrqkvql tiaeafgisa sslhltkptf fsrinstear tahdeywhah vdkvtygsfd
      241 ytsllylsny ledfgggrfm fmeeganktv epragrvsff tsgsenlhrv ekvhwgtrya
      301 itiafscnpd hgiedpafp
//
LOCUS       XP_054174214             788 aa            linear   PRI 20-MAR-2023
DEFINITION  dystrobrevin alpha isoform X1 [Homo sapiens].
ACCESSION   XP_054174214
VERSION     XP_054174214.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318239.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..788
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..788
                     /product="dystrobrevin alpha isoform X1"
                     /calculated_mol_wt=89143
     CDS             1..788
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
                     /coded_by="XM_054318239.1:330..2696"
                     /db_xref="GeneID:1837"
                     /db_xref="HGNC:HGNC:3057"
                     /db_xref="MIM:601239"
ORIGIN      
        1 miedsgkrgn tmaerrqlfa emraqdldri rlstyrtack lrfvqkkcnl hlvdiwnvie
       61 alrenalnnl dpntelnvsr leavlstify qlnkrmptth qihveqsisl llnfllaafd
      121 peghgkisvf avkmalatlc ggkimdklry ifsmisdssg vmvygrydqf lrevlklpta
      181 vfegpsfgyt eqsarscfsq qkkvtlngfl dtlmsdpppq clvwlpllhr lanvenvfhp
      241 vecsychses mmgfryrcqq chnyqlcqdc fwrghaggsh snqhqmkeyt swkspakklt
      301 nalskslsca ssreplhpmf pdqpekplnl ahivpprpvt smndtlfshs vpssgspfit
      361 rssppkdsev eqnkllaraa paflkgkgiq yslnvadrla dehvliglyv nmlrnnpscm
      421 lessnrldee hrliaryaar laaessssqp pqqrsapdis ftidankqqr qliaelenkn
      481 reilqeiqrl rleheqasqp tpekaqqnpt llaelrllrq rkdeleqrms alqesrrelm
      541 vqleglmkll keeelkqgtq gagsprssps htisrpipmp irsasacstp thtpqdsltg
      601 vggdvqeafa qssrrnlrnd llvaadsitn tmsslvkeln sevgsetesn vdsefartqf
      661 edlvpsptse kaflaqihar kpgyihsgat tstmrgdmvt edadpyvqpe denyendsvr
      721 qlenelqmee ylkqklqdea yqlhvstetr lehpcpvset kwrvlfwgfv ffggflslal
      781 qiyfwglf
//
LOCUS       XP_054174468            1159 aa            linear   PRI 20-MAR-2023
DEFINITION  rotatin isoform X15 [Homo sapiens].
ACCESSION   XP_054174468
VERSION     XP_054174468.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318493.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1159
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1159
                     /product="rotatin isoform X15"
                     /calculated_mol_wt=128467
     CDS             1..1159
                     /gene="RTTN"
                     /gene_synonym="MSSP"
                     /coded_by="XM_054318493.1:349..3828"
                     /db_xref="GeneID:25914"
                     /db_xref="HGNC:HGNC:18654"
                     /db_xref="MIM:610436"
ORIGIN      
        1 masglqdclh sivqaathre vraavtrmsf yllndrlslk gcpgpcgvtl kslawhtaln
       61 rflqvlpact edekllidii hflnklikeq rknsslelln wilelllrhs anplldllvl
      121 tesqareetd dirtavrqql qkelialfdt lllnfmevtd rkcsellyvf qtqlalkllq
      181 clkvtdaphf yglpslertl rgmanltafp gwsshspltk pldicvkyls gllevitsfy
      241 verggnamsf mgkgvtksti lcllhlshem maqagslewm slwflplgsh seehiptqqg
      301 lawliplwvd rdpevrftsl glgsalttle tgcvalansc qnisgglwgt vvnilldqse
      361 csmvrreaaf ilqnllvipm pteiikdytw qgpcvhdeds glsligkpal qallyhchfy
      421 ehlnqmvkhc ylgrcmfdln fsafdrnses ndlnglddsf kfwrapsrts qdrdpsslst
      481 settvapslg stefqplvqs ttllpeashd qfvaqghqes tsprpphdss lsaplpklcv
      541 fvtpsllsam cslldnllti aprdtakafr qahliellcs iadatliqtc vqelrallps
      601 sppaehtqaq vsflleylss lsrllqscll vepdlviqde lvkplitnii giltictkdv
      661 ldkelisafy htwthlfnll amllrkagai tlpsvtvala khwtaaidmf ctcaglsatc
      721 palytaslqf lsvllteeak ghlqakskth lccsptvasl lddsqenqks leqlsdvilq
      781 cyegksskdi lkrvaanalm sllavsrraq khalkanlid ncmeqmkhin aqlnldslrp
      841 gkaalkkked gvikelsiam qllrnclyqn eeckeaalea hlvpvlhslw pwilmddslm
      901 qislqllcvy tanfpngcss lcwsscgqhp vqathrgavs nslmlcilkl asqmplentt
      961 vqqmvfmlls nlalshdckg viqksnflqn flslalpkgg nkhlsnltil wlklllniss
     1021 gedgqqmilr ldgcldllte mskykhkssp llpllifhnv cfspankpki lanekvitvl
     1081 aaclesenqn aqrigaaalw aliynyqkak talkspsvkr rvdeayslak ktfpnseanp
     1141 lnayylkcle nlvqllnss
//
LOCUS       XP_054174661            1213 aa            linear   PRI 20-MAR-2023
DEFINITION  phospholipid-transporting ATPase IC isoform X2 [Homo sapiens].
ACCESSION   XP_054174661
VERSION     XP_054174661.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318686.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1213
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1213
                     /product="phospholipid-transporting ATPase IC isoform X2"
                     /calculated_mol_wt=139069
     CDS             1..1213
                     /gene="ATP8B1"
                     /gene_synonym="ATPIC; BRIC; FIC1; ICP1; PFIC; PFIC1"
                     /coded_by="XM_054318686.1:133..3774"
                     /db_xref="GeneID:5205"
                     /db_xref="HGNC:HGNC:3706"
                     /db_xref="MIM:602397"
ORIGIN      
        1 msterdsett fdedsqpnde vvpysddete delddqgsav epeqnrvnre aeenrepfrk
       61 ectwqvkand rkyheqphfm ntkflcikes kyaavpqist lawyttlvpl lvvlgvtaik
      121 dlvddvarhk mdkeinnrtc evikdgrfkv akwkeiqvgd virlkkndfv padilllsss
      181 epnslcyvet aeldgetnlk fkmsleitdq ylqredtlat fdgfieceep nnrldkftgt
      241 lfwrntsfpl dadkillrgc virntdfchg lvifagadtk imknsgktrf krtkidylmn
      301 ymvytifvvl illsaglaig hayweaqvgn sswylydged dtpsyrgfli fwgyiivlnt
      361 mvpislyvsv evirlgqshf inwdlqmyya ekdtpakart ttlneqlgqi hyifsdktgt
      421 ltqnimtfkk ccingqiygd hrdasqhnhn kieqvdfswn tyadgklafy dhylieqiqs
      481 gkepevrqff fllavchtvm vdrtdgqlny qaaspdegal vnaarnfgfa flartqntit
      541 iselgterty nvlaildfns drkrmsiivr tpegniklyc kgadtviyer lhrmnptkqe
      601 tqdaldifan etlrtlclcy keieekefte wnkkfmaasv astnrdeald kvyeeiekdl
      661 illgataied klqdgvpeti sklakadiki wvltgdkket aenigfacel ltedtticyg
      721 edinsllhar menqrnrggv yakfappvqe sffppggnra liitgswlne illekktkrn
      781 kilklkfprt eeerrmrtqs krrleakkeq rqknfvdlac ecsaviccrv tpkqkamvvd
      841 lvkrykkait laigdgandv nmiktahigv gisgqegmqa vmssdysfaq frylqrlllv
      901 hgrwsyirmc kflryffykn faftlvhfwy sffngysaqt ayedwfitly nvlytslpvl
      961 lmglldqdvs dklslrfpgl yivgqrdllf nykrffvsll hgvltsmilf fiplgaylqt
     1021 vgqdgeapsd yqsfavtias alvitvnfqi gldtsywtfv nafsifgsia lyfgimfdfh
     1081 sagihvlfps afqftgtasn alrqpyiwlt iiltvavcll pvvairflsm tiwpsesdki
     1141 qkhrkrlkae eqwqrrqqvf rrgvstrrsa yafshqrgya dlissgrsir kkrspldaiv
     1201 adgtaeyrrt gds
//
LOCUS       XP_054175464            1092 aa            linear   PRI 20-MAR-2023
DEFINITION  SURP and G-patch domain-containing protein 2 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054175464
VERSION     XP_054175464.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319489.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1092
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1092
                     /product="SURP and G-patch domain-containing protein 2
                     isoform X3"
                     /calculated_mol_wt=121207
     CDS             1..1092
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /coded_by="XM_054319489.1:93..3371"
                     /db_xref="GeneID:10147"
                     /db_xref="HGNC:HGNC:18641"
                     /db_xref="MIM:607993"
ORIGIN      
        1 maarritqet fdavlqekak ryhmdasgea vsetlqfkaq dllravprsr aemyddvhsd
       61 gryslsgsva hsrdagregl rsdvfpgpsf rssnpsisdd syfrkecgrd lefshsdsrd
      121 qvighrklgh frsqdwkfal rgsweqdfgh pvsqesswsq eysfgpsavl gdfgssrlie
      181 keclekesrd ydvdhpgead svlrgssqvq argralnivd qegsllgkge tqglltakgg
      241 vgklvtlrnv stkkiptvnr itpktqgtnq iqkntpspdv tlgtnpgted iqfpiqkipl
      301 gldlknlrlp rrkmsfdiid ksdvfsrfgi eiikwagfht ikddikfsql fqtlfelete
      361 tcakmlasfk cslkpehrdf cfftikflkh salktprvdn eflnmlldkg avktkncffe
      421 iikpfdkyim rlqdrllksv tpllmacnay elsvkmktls npldlalale ttnslcrksl
      481 allgqtfsla ssfrqekile avglqdiaps paafpnfeds tlfgreyidh lkawlvssgc
      541 plqvkkaepe pmreeekmip ptkpeiqaka psslsdavpq radhrvvgti dqlvkrvieg
      601 slspkertll kedpaywfls densleykyy klklaemqrm senlrgadqk ptsadcavra
      661 mlysravrnl kkkllpwqrr gllraqglrg wkarrattgt qtllssgtrl khhgrqapgl
      721 sqakpslpdr ndaakdcppd pvgpspqdps leasgpspkp agvdiseapq tsspcpsadi
      781 dmktmetaek larfvaqvgp eieqfsiens tdnpdlwflh dqnssafkfy rkkvfelcps
      841 icftssphnl htgggdttgs qespvdlmeg eaefedeppp reaelespev mpeeededde
      901 dggeeapapg gagksegstp adglpgeaae ddlagapals qassgtcfpr krisskslkv
      961 gmipapkrvc liqepkvhep vriaydrprg rpmskkkkpk dldfaqqklt dknlgfqmlq
     1021 kmgwkeghgl gslgkgirep vsvyaagslg wewvgpqsfh lqpaawllhs qdglqlavdf
     1081 cflnrrhlqm rs
//
LOCUS       XP_054176097             283 aa            linear   PRI 20-MAR-2023
DEFINITION  single-stranded DNA-binding protein 4 isoform X15 [Homo sapiens].
ACCESSION   XP_054176097
VERSION     XP_054176097.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320122.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..283
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..283
                     /product="single-stranded DNA-binding protein 4 isoform
                     X15"
                     /calculated_mol_wt=27904
     CDS             1..283
                     /gene="SSBP4"
                     /coded_by="XM_054320122.1:357..1208"
                     /db_xref="GeneID:170463"
                     /db_xref="HGNC:HGNC:15676"
                     /db_xref="MIM:607391"
ORIGIN      
        1 mgsmapgdtm aagsmaagff qgppgsqpsp hnpnapmmgp hgqpfmsprf pggprptlrm
       61 psqppaglpg sqpllpgame pspraqghps mggpmqrvtp prgmasvgpq sygggmrppp
      121 nslagpglpa mnmgpgvrgp waspsgnsip ysssspgsyt gppggggppg tpimpspgds
      181 tnssenmyti mnpigqgagr anfplgpgpe gpmaamsame phhvngslgs gdmdglpkss
      241 pgavaglsna pgtprddgem aaagtflhpf psesyspgmt msv
//
LOCUS       XP_054176269            1346 aa            linear   PRI 20-MAR-2023
DEFINITION  microtubule-associated serine/threonine-protein kinase 3 isoform
            X10 [Homo sapiens].
ACCESSION   XP_054176269
VERSION     XP_054176269.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320294.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1346
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1346
                     /product="microtubule-associated serine/threonine-protein
                     kinase 3 isoform X10"
                     /calculated_mol_wt=146819
     CDS             1..1346
                     /gene="MAST3"
                     /gene_synonym="DEE108"
                     /coded_by="XM_054320294.1:145..4185"
                     /db_xref="GeneID:23031"
                     /db_xref="HGNC:HGNC:19036"
                     /db_xref="MIM:612258"
ORIGIN      
        1 mksrrdklhi paltldlsps sqspsllgps spcspcspsl glhpwscrsg nrkslvvgtp
       61 sptlsrplsp lsvptgsspl dsprnfsaas alnfpfarsh iprmdradgr rwslaslpss
      121 gygtntpsst lssssssrer lhqlpfqptp delhflskhf rssenvldee ggrsprlrpr
      181 srslspgrat gtfdneivmm nhvyrerfpk ataqmegrlq efltayapga rlaladgvlg
      241 fihhqivela rdclaksgen lvtsryflem qeklerllqd ahersdseev sfivqlvrkl
      301 liiisrparl leclefdpee fyhlleaaeg haregqgikt dlpqyiigql glakdpleem
      361 vplshleeeq ppapespesr alvgqsrrkp cesdfetikl isngaygavy lvrhrdtrqr
      421 faikkinkqn lilrnqiqqv fverdiltfa enpfvvsmfc sfetrrhlcm vmeyveggdc
      481 atllknmgpl pvdmarlyfa etvlaleylh nygivhrdlk pdnllitslg hikltdfgls
      541 kiglmsmatn lyeghiekda refidkqvcg tpeyiapevi frqgygkpvd wwamgvvlye
      601 flvgcvpffg dtpeelfgqv vsdeimwpeg dealpadaqd litrllrqsp ldrlgtggth
      661 evkqhpffla ldwagllrhk aefvpqleae ddtsyfdtrs eryrhlgsed detndeesst
      721 eipqfsscsh rfskvyssse flavqptptf aersfsedre egwersevdy grrlsadirl
      781 rswtssgssc qssssqperg pspsllntis ldtmpkfafs sedegvgpgp agpkrpvfil
      841 gepdpppaat pvmpkpssls adtaalshar lrsnsigarh stprpldagr grrlggprdp
      901 apeksrasss ggsgggsggr vpksasvsal sliitaddgs ggplmsplsp rslssnpssr
      961 dsspsrdpsp vcgslrppiv ihssgkkygf slrairvymg dsdvytvhhv vwsvedgspa
     1021 qeaglragdl ithingesvl glvhmdvvel llksgnkisl rttalentsi kvgparknva
     1081 kgrmarrskr srrretqdrc aavttrerrk slfkkiskqt svlhtsrsfs sglhhslsss
     1141 eslpgspths lspspttpcr spapdvpadt tasppsasps ssspaspaaa ghtrpsslhg
     1201 laaklgpprp ktgrrkstss ippsplacpp isappprsps plpghppapa rsprlrrgqs
     1261 adklgtgerl dgeagrrtrg peaelvvmrr lhlserrdsf kkqeavqevs fdepqeeatg
     1321 lptsvpqiav egeeavpval gptgrd
//
LOCUS       XP_054176649             772 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 62 isoform X16 [Homo sapiens].
ACCESSION   XP_054176649
VERSION     XP_054176649.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320674.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..772
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..772
                     /product="WD repeat-containing protein 62 isoform X16"
                     /calculated_mol_wt=82853
     CDS             1..772
                     /gene="WDR62"
                     /gene_synonym="C19orf14; MCPH2"
                     /coded_by="XM_054320674.1:120..2438"
                     /db_xref="GeneID:284403"
                     /db_xref="HGNC:HGNC:24502"
                     /db_xref="MIM:613583"
ORIGIN      
        1 mkqhlleidh rqqqqhtndk krsghprqdt yvstpseihs lspgeqtedd leeecepeem
       61 lktpskdsld pdprclltng klplwakrll gdddvadgsa fhakrsyqph grwaeragqe
      121 plktildaqd ldcyftpmkp eslensilds lepqslasll sesespqeag rghpsflpqq
      181 kesseaseli lysleaevtv tgtdsqycrk eveagpgdqq gdsylrvssd spkdqspped
      241 sgeseadlec sfaaihspap ppdpaprfat slphfpgcag ptedelslpe gpsvpssslp
      301 qtpeqekflr hhfetltesp crelfpaalg dveaseaedh ffnprlsist qflsslqkas
      361 rfthtfppra tqclvkspev klmdrggsqp ragtgyaspd rthvlaagka eetleawrpp
      421 ppcltslasc vpassvlptd rnlptptsap tpglaqgvha pstcsymeat assrarisrs
      481 islgdsegpi vatlaqplrr pssvgelasl gqelqaitta ttpsldsegq epalrswgnh
      541 earanlrltl ssacdgllqp pvdtqpgvtv pavsfpapsp veesalrlhg safrpslpap
      601 espglpahps npqlpearpg ipggtaslle ptsgalgllq gsparwsepw vpvealppsp
      661 lelsrvgnil hrlqttfqea ldlyrvlvss gqvdtgqqqa rtelvstflw ihsqleaecl
      721 vgtsvapaqa lpspgppspp tlyplaspdl qallehysel lvqavrrkar gh
//
LOCUS       XP_054177019             558 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ENL isoform X3 [Homo sapiens].
ACCESSION   XP_054177019
VERSION     XP_054177019.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321044.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..558
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..558
                     /product="protein ENL isoform X3"
                     /calculated_mol_wt=62123
     CDS             1..558
                     /gene="MLLT1"
                     /gene_synonym="ENL; LTG19; YEATS1"
                     /coded_by="XM_054321044.1:16..1692"
                     /db_xref="GeneID:4298"
                     /db_xref="HGNC:HGNC:7134"
                     /db_xref="MIM:159556"
ORIGIN      
        1 mcafpafpqf wdseipgqrh qlrssfcvcv ctcapvcrld sdfkrctvqv rlelghraql
       61 rkkpttegft hdwmvfvrgp eqcdiqhfve kvvfwlhdsf pkprrvckep pykveesgya
      121 gfimpievhf knkeeprkvc ftydlflnle gnppvnhlrc ekltfnnptt efrykllrag
      181 gdankesskt skphkvtkeh rerprkdses kssskelere qaksskdtsr klgegrlpke
      241 ekapppkaaf kepkmalket klestspkgg pppppppppr asskrpatad spkpsakkqk
      301 kssskgsrsa pgtsprtsss ssfsdkkpak dksstrgekv kaesepreak kaleveesns
      361 edeasfkses aqsspsnsss ssdsssdsdf epsqnhsqgp lrsmvedlqs eesdeddsss
      421 geeaagktnp grdsrlsfsd sesdnsadss lpsreppppq kppppnskvs grrspescsk
      481 pekilkkgty dkaytdelve lhrrlmalre rnvlqqivnl ieetghfnvt nttfdfdlfs
      541 ldettvrklq scleavat
//
LOCUS       XP_054177738             424 aa            linear   PRI 20-MAR-2023
DEFINITION  carbohydrate sulfotransferase 8 isoform X1 [Homo sapiens].
ACCESSION   XP_054177738
VERSION     XP_054177738.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321763.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..424
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..424
                     /product="carbohydrate sulfotransferase 8 isoform X1"
                     /calculated_mol_wt=48703
     CDS             1..424
                     /gene="CHST8"
                     /gene_synonym="GalNAc4ST; GALNAC4ST1; PSS3"
                     /coded_by="XM_054321763.1:740..2014"
                     /db_xref="GeneID:64377"
                     /db_xref="HGNC:HGNC:15993"
                     /db_xref="MIM:610190"
ORIGIN      
        1 mtlrpgtmrl acmfssillf gaaglllfis lqdptelapq qvpgikfnir prqphhdlpp
       61 ggsqdgdlke ptervtrdls sgaprgrnlp apdqpqpplq rgtrlrlrqr rrrllikkmp
      121 aaatipanss dapfirpgpg tldgrwvslh rsqqerkrvm qeacakyras ssrravtprh
      181 vsrifvedrh rvlycevpka gcsnwkrvlm vlaglassta diqhntvhyg salkrldtfd
      241 rqgilhrlst ytkmlfvrep ferlvsafrd kfehpnsyyh pvfgkailar yranasreal
      301 rtgsgvrfpe fvqylldvhr pvgmdihwdh vsrlcspcli dydfvgkfes meddanffls
      361 liraprnltf prfkdrhsqe arttariahq yfaqlsalqr qrtydfyymd ylmfnyskpf
      421 adly
//
LOCUS       XP_054196850             677 aa            linear   PRI 20-MAR-2023
DEFINITION  C-type lectin domain family 4 member F isoform X3 [Homo sapiens].
ACCESSION   XP_054196850
VERSION     XP_054196850.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340875.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..677
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..677
                     /product="C-type lectin domain family 4 member F isoform
                     X3"
                     /calculated_mol_wt=75214
     CDS             1..677
                     /gene="CLEC4F"
                     /gene_synonym="CLECSF13; KCLR; KCR"
                     /coded_by="XM_054340875.1:77..2110"
                     /db_xref="GeneID:165530"
                     /db_xref="HGNC:HGNC:25357"
                     /db_xref="MIM:620105"
ORIGIN      
        1 mdgeavrfct dnqcvslhpq evdsvamapa apkiprlvqa tpafmavtlv fslvtlfvvg
       61 kppgdpnltn flsfqhkvpr gprctlsgpl csqkdhstss srpkpqlpwe qikatvqgga
      121 sqelrfmret lggslllspr fwnstsvwds vssqaqgwgf adlekwnvsv qqqtrpvpkp
      181 vqavilgdni tghlpfepnn hhhfgreaem qeliqtfkgh menssawvve iqmlkcrvdn
      241 vnsqlqvlgd hlgntnadiq mvkgvlkdat tlslqtqmlr sslegtnaei qrlkedleka
      301 daltfqtlnf lksslentsi elhvlsrgle nanseiqmln asletantqa qlansslkna
      361 naeiyvlrgh ldsvndlrtq nqvlrnsleg anaeiqglke nlqntnalns qtqafikssf
      421 dntsaeiqfl rghleragde ihvlkrdlkm vtaqtqkang rldqtdtqiq vfksemenvn
      481 tlnaqiqvln ghmknasrei qtlkqgmkna saltsqtqml dsnlqkasae iqrlrgdlen
      541 tkaltmeiqq eqsrlktlhv vitsqeqlqr tqsqllqmvl qgwkfnggsl yyfssvkksw
      601 heaeqfcvsq gahlasvask eeqaflveft skvyywiglt drgtegswrw tdgtpfnaaq
      661 nkashstrkg cclhltv
//
LOCUS       XP_054196858             271 aa            linear   PRI 20-MAR-2023
DEFINITION  deoxyguanosine kinase, mitochondrial isoform X1 [Homo sapiens].
ACCESSION   XP_054196858
VERSION     XP_054196858.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340883.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..271
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..271
                     /product="deoxyguanosine kinase, mitochondrial isoform X1"
                     /calculated_mol_wt=31217
     CDS             1..271
                     /gene="DGUOK"
                     /gene_synonym="dGK; MTDPS3; NCPH; NCPH1; PEOB4"
                     /coded_by="XM_054340883.1:32..847"
                     /db_xref="GeneID:1716"
                     /db_xref="HGNC:HGNC:2858"
                     /db_xref="MIM:601465"
ORIGIN      
        1 maagrlflsr lrapfssmak splegvsssr glhagrgprr lsiegniavg kstfvklltk
       61 typewhvate pvatwqniqa agtqkactaq slgnlldmmy reparwsytf qtfsflsrlk
      121 vqlepfpekl lqarkpvqif eryifaknlf engslsdiew hiyqdwhsfl lwefasritl
      181 hgfiylqasp qvclkrlyqr areeekgiel ayleqlhgqh eawlihkttk lhfealmnip
      241 vlvldvnddf seevtkqedl mrevntfvkn l
//
LOCUS       XP_054197192            1882 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 131 isoform X4 [Homo sapiens].
ACCESSION   XP_054197192
VERSION     XP_054197192.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341217.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1882
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1882
                     /product="transmembrane protein 131 isoform X4"
                     /calculated_mol_wt=204879
     CDS             1..1882
                     /gene="TMEM131"
                     /gene_synonym="CC28; PRO1048; RW1; YR-23"
                     /coded_by="XM_054341217.1:287..5935"
                     /db_xref="GeneID:23505"
                     /db_xref="HGNC:HGNC:30366"
                     /db_xref="MIM:615659"
ORIGIN      
        1 mgkragggat gattaavsts agaglepaaa rsggprsaaa gllgalhlvm tlvvaaarae
       61 keafvqsesi ievlrfddgg llqtettlgl ssyqqksisl yrgncrpirf eppmldfheq
      121 pvgmpkmekv ylhnpsseet itlvsisatt shfhasffqn rkilpggnts fdvvflarvv
      181 gnventlfin tsnhgvftyq vfgvgvpnpy rlrpflgarv pvnssfspii nihnphsepl
      241 qvvemyssgg dlhlelptgq qggtrklwei ppyetkgvmr asfssreadn htafiriktn
      301 asdstefiil pvevevttap giysstemld fgtlrtqdlp kvlnlhllns gtkdvpitsv
      361 rptpqndait vhfkpitlka seskytkvas isfdaskakk psqfsgkitv kakeksyskl
      421 eipyqaevld gylgfdhaat lfhirdspad pverpiyltn tfsfailihd vllpeeaktm
      481 fkvhnfskpv lilpnesgyi ftllfmpsts smhidnnill itnaskfhlp vrvytgfldy
      541 fvlppkieer fidfgvlsat easnilfaii nsnpielaik swhiigdgls ielvavergn
      601 rttiisslpe feksslsdqs svtlasgyfa vfrvkltakk legihdgaiq ittdyeilti
      661 pvkaviavgs ltcfpkhvvl ppsfpgkivh qslnimnsfs qkvkiqqirs lsedvrfyyk
      721 rlrgnkedle pgkkskiani yfdpglqcgd hcyvglpfls ksepkvqpgv amqedmwdad
      781 wdlhqslfkg wtgikensgh rlsaifevnt dlqkniiski taelswpsil ssprhlkfpl
      841 tntncsseee itlenpadvp vyvqfiplal ysnpsvfvdk lvsrfnlskv akidlrtlef
      901 qvfrnsahpl qsstgfmegl srhlilnlil kpgekksvkv kftpvhnrtv ssliivrnnl
      961 tvmdavmvqg qgttenlrva gklpgpgssl rfkiteallk dctdslklre pnftlkrtfk
     1021 ventgqlqih ietieisgys cegygfkvvn cqeftlsana srdiiilftp dftasrvire
     1081 lkfittsgse fvfilnaslp yhmlatcaea lprpnwelal yiiisgimsa lfllvigtay
     1141 leaqgiwepf rrrlsfeasn ppfdvgrpfd lrrivgisse gnlntlscdp ghsrgfcgag
     1201 gsssrpsags hkqcgpsvhp hsshsnrnsa dvenvrakns sstssrtsaq aassqsankt
     1261 splvldsntv tqghtagrks kgakqsqhgs qhhahspleq hpqpplpppv pqpqepqper
     1321 lspaplahps hperassarh ssedsditsl ieamdkdfdh hdspalevft eqppsplpks
     1381 kgkgkplqrk vkppkkqeek ekkgkgkpqe delkdsladd dssstttets npdtepllke
     1441 dtekqkgkqa mpekhesems qvkqkskkll nikkeiptdv kpsslelpyt ppleskqrrn
     1501 lpskiplpta mtsgsksrna qktkgtsklv dnrppalakf lpnsqelgnt sssegekdsp
     1561 ppewdsvpvh kpgsstdsly klslqtlnad iflkqrqtsp tpaspsppaa pcpfvargsy
     1621 ssivnsssss dpkikqpngs khkltkaasl pgkngnptfa avtagydksp ggngfakvss
     1681 nktgfssslg ishapvdsdg sdssglwspv snpsspdftp lnsfsafgns fnltgvfskl
     1741 glsrscnqas qrswnefnsg psylwespat dpspswpass gspthtatsv lgntsglwst
     1801 tpfsssiwss nlssalpftt pantlasigl mgtenspaph apstsspadd lgqtynpwri
     1861 wsptigrrss dpwsnshfph en
//
LOCUS       XP_054199851             577 aa            linear   PRI 20-MAR-2023
DEFINITION  sperm-associated antigen 16 protein isoform X5 [Homo sapiens].
ACCESSION   XP_054199851
VERSION     XP_054199851.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343876.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..577
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..577
                     /product="sperm-associated antigen 16 protein isoform X5"
                     /calculated_mol_wt=65092
     CDS             1..577
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /coded_by="XM_054343876.1:968..2701"
                     /db_xref="GeneID:79582"
                     /db_xref="HGNC:HGNC:23225"
                     /db_xref="MIM:612173"
ORIGIN      
        1 mdlqndmipd dnfsipegee dlakaiqmaq eqatdteile rktvlpskha vpeviedflc
       61 nflikmgmtr tldcfqsewy eliqkgvtel rtvgnvpdvy tqimllenen knlkkdlkhy
      121 kqaadkared llkiqkerdf hrmhhkrivq eknklindlk glklhyasye ptirvlhekh
      181 htllkekmlt slerdkvvgq isglqetlkk lqrghsyhgp qikvdhsrek enapegptqk
      241 glreareqnk cktkmkgntk dsefpidmqp npnlnvskes lspakfdykl knifrlhelp
      301 vscvsmqphk dilvscgedr lwkvlglpkc nvlltgfght dwlsdccfhp sgdklatssg
      361 dttvklwdlc kgdciltfeg hsravwsctw hscgnfvass sldktskiwd vnsercrctl
      421 yghtdsvnsi effpfsntll tssadktlsi wdartgiceq slyghmhsin daifdprghm
      481 iascdacgvt klwdfrkllp ivsidigpsp gnevnfdssg rvlaqasgng vihlldlksg
      541 eihklmghen eahtvvfshd geilfsggsd gtvrtws
//
LOCUS       XP_054200601             373 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear body protein SP140-like protein isoform X11 [Homo sapiens].
ACCESSION   XP_054200601
VERSION     XP_054200601.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344626.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..373
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..373
                     /product="nuclear body protein SP140-like protein isoform
                     X11"
                     /calculated_mol_wt=42215
     CDS             1..373
                     /gene="SP140L"
                     /coded_by="XM_054344626.1:78..1199"
                     /db_xref="GeneID:93349"
                     /db_xref="HGNC:HGNC:25105"
                     /db_xref="MIM:617747"
ORIGIN      
        1 magggsdlst rglnggvsqv anemnhlpah sqslqrlfte dqdvdeglvy dtvfkhfkrh
       61 kleisnaikk tfpfleglrd relitnkmfe dsedscrnlv pvqrvvynvl selektfnls
      121 vlealfsevn mqeypdlihi yksfknaiqd klsfqesdrk ereerpdikl slkqerpace
      181 nekcsyvmcf sgevpespea rkesdqacgk mdtvdianns tlgkpkrkrr kkkghgwsrm
      241 gtrtqknnqq ndnskadgql vssekkanmn lkdlskirgr krgkpgthft qsdrapqkrv
      301 rsrasrkhkd etvdfqapll pvtcggvkgi lhkekleqep sadsglvstp riqqqvgvls
      361 sfritcfsfc kcf
//
LOCUS       XP_054179953             317 aa            linear   PRI 20-MAR-2023
DEFINITION  arginine-hydroxylase NDUFAF5, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_054179953
VERSION     XP_054179953.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323978.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..317
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..317
                     /product="arginine-hydroxylase NDUFAF5, mitochondrial
                     isoform X1"
                     /calculated_mol_wt=35699
     CDS             1..317
                     /gene="NDUFAF5"
                     /gene_synonym="bA526K24.2; C20orf7; dJ842G6.1; MC1DN16"
                     /coded_by="XM_054323978.1:42..995"
                     /db_xref="GeneID:79133"
                     /db_xref="HGNC:HGNC:15899"
                     /db_xref="MIM:612360"
ORIGIN      
        1 mlrpaglwrl crrpwaarvp aenlgrrevt sgvsprgsts prtlnifdrd lkrkqknwaa
       61 rqpeptkfdy lkeevgsria drvydiprnf plaldlgcgr gyiaqylnke tigkffqadi
      121 aenalknsse teiptvsvla deeflpfken tfdlvvssls lhwvndlpra leqihyilkp
      181 dgvfigamfg gdtlyelrcs lqlaetereg gfsphispft avndlghllg ragfntltvd
      241 tdeiqvnypg mfelmedlqe myrnedgsvp atyqiyymig wkyhesqarp aergsatvsf
      301 gelgkinnlm ppgkksq
//
LOCUS       XP_054180615             321 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C21orf58 isoform X2 [Homo sapiens].
ACCESSION   XP_054180615
VERSION     XP_054180615.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324640.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..321
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..321
                     /product="uncharacterized protein C21orf58 isoform X2"
                     /calculated_mol_wt=34744
     CDS             1..321
                     /gene="C21orf58"
                     /coded_by="XM_054324640.1:1134..2099"
                     /db_xref="GeneID:54058"
                     /db_xref="HGNC:HGNC:1300"
ORIGIN      
        1 marsrlpats lrkpwkldrq klpspdsghs llcgwspggk arpagntgaw apaeqffpas
       61 nrtreggglw pplplqsspa aptmldssaa eqvtrltlkl lgqleqerqn veggpeglhl
      121 epgnedrpdd alqtalkrrr dllqrlreqh lldelsraqa wsgpsrgalg salppelppt
      181 gilptaspsp lapdppriil ptvpqppati iqqlpqqpli aqipppqafp tqrsgsiked
      241 mvellllqna qvhqlvlqnw mlkalppalq dpphvpprvp raarprlpav hhhhhhhhav
      301 wppgaatvlq papslwtpgp p
//
LOCUS       XP_054181079             194 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 54 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054181079
VERSION     XP_054181079.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325104.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..194
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..194
                     /product="ankyrin repeat domain-containing protein 54
                     isoform X6"
                     /calculated_mol_wt=21858
     CDS             1..194
                     /gene="ANKRD54"
                     /gene_synonym="LIAR"
                     /coded_by="XM_054325104.1:294..878"
                     /db_xref="GeneID:129138"
                     /db_xref="HGNC:HGNC:25185"
                     /db_xref="MIM:613383"
ORIGIN      
        1 maripvqlmt raaqlytlph amamtrlcsc swtmvlilts emgwgtrhct wrpapttfls
       61 sphcyeevcg ffpslssfsp sppecspqlv pagarvdald ragrtplhla ksklnilqeg
      121 haqcleavrl evkqiihmlr eylerlgqhe qrerlddlct rlqmtstkeq vdevtdllas
      181 ftslslqmqs mekr
//
LOCUS       XP_054181311            2190 aa            linear   PRI 20-MAR-2023
DEFINITION  calcineurin-binding protein cabin-1 isoform X13 [Homo sapiens].
ACCESSION   XP_054181311
VERSION     XP_054181311.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325336.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2190
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2190
                     /product="calcineurin-binding protein cabin-1 isoform X13"
                     /calculated_mol_wt=242405
     CDS             1..2190
                     /gene="CABIN1"
                     /gene_synonym="CAIN; KB-318B8.7; PPP3IN"
                     /coded_by="XM_054325336.1:434..7006"
                     /db_xref="GeneID:23523"
                     /db_xref="HGNC:HGNC:24187"
                     /db_xref="MIM:604251"
ORIGIN      
        1 miriaalnas stieddhegs fkshktqtke aqeaeafaly hkaldlqkhd rfeesakayh
       61 elleasllre avssgdekeg lkhpglilky styknlaqla aqredletam efyleavmld
      121 stdvnlwyki ghvalrliri plarhafeeg lrcnpdhwpc ldnlitvlyt lsdyttclyf
      181 ickalekdcr yskglvlkek ifeeqpclrk dslrmflkcd msihdvsvsa aetqaivdea
      241 lglrkkrqal ivrekepdlk lvqpipfftw kclgesllam ynhlttcepp rpslgkridl
      301 sdyqdpsqpl essmvvtpvn viqpstvstn pavavaepvv sytsvattsf plhspgllet
      361 gapvgdisgg dkskkgvkrk kiseesgeta krrsarvrnt kckkeekvdf qellmkflps
      421 rlrkldpeee ddsfnnyevq seaklesfps igpqrlsfds atfmesekqd vhefllenlt
      481 nggilelmmr ylkamghkfl vrwppglaev vlsvyhswrr hstslpnpll rdcsnkhikd
      541 mmlmslscme lqldqwlltk grssavsprn cpagmvngrf gpdfpgthcl gdllqlsfas
      601 sqrdlfedgw lefvvrvywl karflalqgd meqalenydi ctemlqssta iqveagaerr
      661 divirlpnlh ndsvvsleed sllrlkdyrq cfecsdvaln eavqqmvnsg eaaakeewva
      721 tvtqllmgie qalsadssgs ilkvsssttg lvrltnnliq vidcsmavqe eakephvssv
      781 lpwiilhrii wqeedtfhsl chqqqlqnpa eegmsetpml psslmllnta heylgrrswc
      841 cnsdgallrf yvrvlqkela astsedthpy keeletaleq cfyclysfps kkskarylee
      901 hsaqqvdliw edalfmfeyf kpktlpefds yktstvsadl anllkriati vprterpals
      961 ldkvsayieg tstevpclpe gadpsppvvn elyylladyh fknkeqskai kfymhdicic
     1021 pnrfdswagm alarasriqd klnsnelksd gpiwkhatpv lncfrralei dssnlslwie
     1081 ygtmsyalhs fasrqlkqwr gelppelvqq megrrdsmle takhcftsaa rcegdgdeee
     1141 wlihymlgkv aekqqqpptv yllhyrqagh ylheeaaryp kkihyhnppe lamealevyf
     1201 rlhasilkll gkpdsgvgae vlvnfmkeaa egpfargeek ntpkasekek aclvdedshs
     1261 sagtlpgpga slpsssgpgl tsppytatpi dhdyvkckkp hqqatpdgtv pvlptaspgr
     1321 hinhggvlgr lilslrfdrs qdstavalsd ssstqdffne ptsllegsrk sytekrlpil
     1381 ssqagatgkd lqgateergk neeslesteg fraaeqgvqk paaetpasac ipgkpsastp
     1441 tlwdgkkrgd lpgepvafpq glpagaeeqr qflteqcias frlclsrfpq hykslyrlaf
     1501 lytyskthrn lqwardvllg ssipwqqlqh mpaqglfcer nktnffngiw ripvdeidrp
     1561 gsfawhmnrs ivlllkvlaq lrdhstllkv ssmlqrtpdq gkkylrdadr qvlaqrafil
     1621 tvkvledtls elaegserpg pkvcglpgar mttdvshkas pedgqeglpq pkkppladgs
     1681 gpgpepggkv gllnhrpvam dagdsadqsg erkdkespra gptepmdtse atvchsdler
     1741 tppllpgrpa rdrgpesrpt elsleelsis arqqptpltp aqpapapapa tttgtraggh
     1801 peeplsrlsr krklledtes gktllldayr vwqqgqkgva ydlgrverim setymlikqh
     1861 lpvkvdeeaa leqavkfcqv hlgaaaqrqa sgdtpttpkh pkdsrenffp vtvvptapdp
     1921 vpadsvqrps dahtkprpal aaattiitcp psasastldq skdpgpprph rpeatpsmas
     1981 lgpegeelar vaegtsfppq eprhspqvkm aptsspaeph cwpaeaalgt gaeptcsqeg
     2041 klrpeprrdg eaqeaasetq plsspptaas skapssgsaq ppeghpgkpe psraksrplp
     2101 nmpklvipsa atkfppeitv tpptptllsp kgsiseetkq klksailsaq saanvrkesl
     2161 cqpalevlet ssqesslese tdedddymdi
//
LOCUS       XP_054201393            1025 aa            linear   PRI 20-MAR-2023
DEFINITION  contactin-4 isoform X2 [Homo sapiens].
ACCESSION   XP_054201393
VERSION     XP_054201393.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345418.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1025
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1025
                     /product="contactin-4 isoform X2"
                     /calculated_mol_wt=113195
     CDS             1..1025
                     /gene="CNTN4"
                     /gene_synonym="AXCAM; BIG-2"
                     /coded_by="XM_054345418.1:3990..7067"
                     /db_xref="GeneID:152330"
                     /db_xref="HGNC:HGNC:2174"
                     /db_xref="MIM:607280"
ORIGIN      
        1 mrlpwellvl qsfilcladd stlhgpifiq epspvmfpld seekkvklnc evkgnpkphi
       61 rwklngtdvd tgmdfrysvv egsllinnpn ktqdagtyqc tatnsfgtiv sreaklqfay
      121 ldnfktrtrs tvsvrrgqgm vllcgppphs gelsyawifn eypsyqdnrr fvsqetgnly
      181 iakveksdvg nytcvvtntv tnhkvlgppt plilrndgvm geyepkievq fpetvptakg
      241 atvklecfal gnpvptiiwr radgkpiark arrhksngil eipnfqqeda glyecvaens
      301 rgknvargql tfyaqpnwiq kindihvame envfweckan grpkptykwl kngeplltrd
      361 riqieqgtln itivnlsdag myqclaenkh gvifsnaels viavgpdfsr tllkrvtlvk
      421 vggevvieck pkaspkpvyt wkkgrdilke neritisedg nlriinvtks dagsytciat
      481 nhfgtasstg nlvvkdptrv mvppssmdvt vgesivlpcq vthdhsldiv ftwsfnghli
      541 dfdrdgdhfe rvggdsagdl mirniqlkha gkyvcmvqts vdrlsaaadl ivrgppgppe
      601 avtideitdt taqlswrpgp dnhspitmyv iqartpfsvg wqavstvpel idgktftatv
      661 vglnpwveye frtvaanvig igepsrpsek rrteealpev tpanvsgggg skselvitwe
      721 tvpeelqngr gfgyvvafrp ygkmiwmltv lasadasryv frnesvhpfs pfevkvgvfn
      781 nkgegpfspt tvvysaeeep tkppasifar slsatdievf waspleknrg riqgyevkyw
      841 rhedkeenar kirtvgnqts tkitnlkgsv lyhlavkayn sagtgpssat vnvttrkppp
      901 sqppgniiwn ssdskiilnw dqvkaldnes evkgykvlyr wnrqsstsvi etnktsvels
      961 lpfdedyiie ikpfsdggdg ssseqiripk isnayargsg astsnactls aistimislt
     1021 arssl
//
LOCUS       XP_054201420             895 aa            linear   PRI 20-MAR-2023
DEFINITION  dystroglycan 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054201420
VERSION     XP_054201420.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345445.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..895
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..895
                     /product="dystroglycan 1 isoform X1"
                     /calculated_mol_wt=97410
     CDS             1..895
                     /gene="DAG1"
                     /gene_synonym="156DAG; A3a; AGRNR; DAG; LGMDR16; MDDGA9;
                     MDDGC7; MDDGC9"
                     /coded_by="XM_054345445.1:774..3461"
                     /db_xref="GeneID:1605"
                     /db_xref="HGNC:HGNC:2666"
                     /db_xref="MIM:128239"
ORIGIN      
        1 mrmsvglsll lplwgrtfll llsvvmaqsh wpsepseavr dwenqleasm hsvlsdlhea
       61 vptvvgipdg tavvgrsfrv tiptdliass gdiikvsaag kealpswlhw dsqshtlegl
      121 pldtdkgvhy isvsatrlga ngshipqtss vfsievyped hselqsvrta spdpgevvss
      181 acaadepvtv ltvildadlt kmtpkqridl lhrmrsfsev elhnmklvpv vnnrlfdmsa
      241 fmagpgnakk vvengallsw klgcslnqns vpdihgveap aregamsaql gypvvgwhia
      301 nkkpplpkrv rrqihatptp vtaigpptta iqeppsrivp tptspaiapp tetmappvrd
      361 pvpgkptvti rtrgaiiqtp tlgpiqptrv seagttvpgq irptmtipgy veptavatpp
      421 ttttkkprvs tpkpatpstd stttttrrpt kkprtprpvp rvttkvsitr letaspptri
      481 rtttsgvprg gepnqrpelk nhidrvdawv gtyfevkips dtfydhedtt tdklkltlkl
      541 reqqlvgeks wvqfnsnsql myglpdsshv gkheyfmhat dkgglsavda feihvhrrpq
      601 gdraparfka kfvgdpalvl ndihkkialv kklafafgdr ncstitlqni trgsivvewt
      661 nntlplepcp keqiaglsrr iaeddgkprp afsnalepdf katsitvtgs gscrhlqfip
      721 vvpprrvpse apptevpdrd peksseddvy lhtvipavvv aailliagii amicyrkkrk
      781 gkltledqat fikkgvpiif adelddskpp psssmplilq eekaplpppe ypnqsvpett
      841 plnqdtmgey tplrdedpna ppyqppppft apmegkgsrp knmtpyrspp pyvpp
//
LOCUS       XP_054202870            2135 aa            linear   PRI 20-MAR-2023
DEFINITION  plexin-B1 isoform X2 [Homo sapiens].
ACCESSION   XP_054202870
VERSION     XP_054202870.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346895.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2135
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2135
                     /product="plexin-B1 isoform X2"
                     /calculated_mol_wt=232168
     CDS             1..2135
                     /gene="PLXNB1"
                     /gene_synonym="PLEXIN-B1; PLXN5; SEP"
                     /coded_by="XM_054346895.1:714..7121"
                     /db_xref="GeneID:5364"
                     /db_xref="HGNC:HGNC:9103"
                     /db_xref="MIM:601053"
ORIGIN      
        1 mpalgpallq alwagwvltl qplpptaftp ngtylqhlar dptsgtlylg atnflfqlsp
       61 glqleatvst gpvldsrdcl ppvmpdecpq aqptnnpnql llvspgalvv cgsvhqgvce
      121 qrrlgqleql llrperpgdt qyvaandpav stvglvaqgl agepllfvgr gytsrgvggg
      181 ippittralw ppdpqaafsy eetaklavgr lseyshhfvs afargasayf lflrrdlqaq
      241 srafrayvsr vclrdqhyys yvelplaceg grygliqaaa vatsrevahg evlfaafssa
      301 apptvgrpps aaagasgasa lcafpldevd rlanrtrdac ytregraedg tevayieydv
      361 nsdcaqlpvd tldaypcgsd htpspmasrv pleatpilew pgiqltavav tmedghtiaf
      421 lgdsqgqlhr vylgpgsdgh pystqsiqqg savsrdltfd gtfehlyvmt qstllkvpva
      481 scaqhldcas clahrdpycg wcvllgrcsr rsecsrgqgp eqwlwsfqpe lgclqvaams
      541 panisreetr evflsvpdlp plwpgesysc hfgehqspal ltgsgvmcps pdpseapvlp
      601 rgadyvsvsv elrfgavvia ktslsfydcv avtelrpsaq cqacvssrwg cnwcvwqhlc
      661 thkascdagp mvashqsplv spdpparggp spspptapka latpapdtlp vepgapstat
      721 asdispgasp sllspwgpwa gsgsisspgs tgsplheeps ppspqngpgt avpaptdfrp
      781 satpedllas plspsevaav ppadpgpeal hptvpldlpp atvpattfpg amgsvkpald
      841 wltreggelp eadewtggda pafststlls gdgdsaeleg ppaplilpss ldyqydtpgl
      901 weleeatlga sscpcvesvq gstlmpvhve reirllgrnl hlfqdgpgdn ecvmelegle
      961 vvvearvece pppdtqchvt cqqhqlsyea lqpelrvglf lrragrlrvd saeglhvvly
     1021 dcsvghgdcs rcqtampqyg cvwcegerpr cvtreacgea eavatqcpap lihsvepltg
     1081 pvdggtrvti rgsnlgqhvq dvlgmvtvag vpcavdaqey evssslvcit gasgeevaga
     1141 tavevpgrgr gvsehdfayq dpkvhsifpa rgpraggtrl tlngsklltg rledirvvvg
     1201 dqpchllpeq qseqlrcets prptpatlpv avwfgaterr lqrgqfkytl dpnitsagpt
     1261 ksflsggrei cvrgqnldvv qtprirvtvv srmlqpsqgl grrrrvvpet acslgpscss
     1321 qqfeepchvn ssqlitcrtp alpglpedpw vrvefildnl vfdfatlnpt pfsyeadptl
     1381 qplnpedptm pfrhkpgsvf svegenldla mskeevvami gdgpcvvktl trhhlycepp
     1441 veqplprhha lreapdslpe ftvqmgnlrf slghvqydge spgafpvaaq vglgvgtsll
     1501 algviiivlm yrrkskqalr dykkvqiqle nlessvrdrc kkeftdlmte mtdltsdllg
     1561 sgipfldykv yaeriffpgh resplhrdlg vpesrrptve qglgqlsnll nsklfltkfi
     1621 htlesqrtfs ardrayvasl ltvalhgkle yftdilrtll sdlvaqyvak npklmlrrte
     1681 tvveklltnw msiclytfvr dsvgeplyml frgikhqvdk gpvdsvtgka kytlndnrll
     1741 redveyrplt lnallavgpg ageaqgvpvk vldcdtisqa kekmldqlyk gvpltqrpdp
     1801 rtldvewrsg vaghlilsde dvtsevqglw rrlntlqhyk vpdgatvalv pcltkhvlre
     1861 nqdyvpgert pmledvdegg irpwhlvkps depepprprr gslrggerer akaipeiylt
     1921 rllsmkgtlq kfvddlfqvi lstsrpvpla vkyffdllde qaqqhgisdq dtihiwktns
     1981 lplrfwinii knpqfvfdvq tsdnmdavll viaqtfmdac tladhklgrd spinkllyar
     2041 diprykrmve ryyadirqtv pasdqemnsv laelswnysg dlgarvalhe lykyinkyyd
     2101 qiitaleedg taqkmqlgyr lqqiaaaven kvtdl
//
LOCUS       XP_054203724             279 aa            linear   PRI 20-MAR-2023
DEFINITION  vasoactive intestinal polypeptide receptor 1 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054203724
VERSION     XP_054203724.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347749.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..279
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..279
                     /product="vasoactive intestinal polypeptide receptor 1
                     isoform X5"
                     /calculated_mol_wt=31833
     CDS             1..279
                     /gene="VIPR1"
                     /gene_synonym="HVR1; II; PACAP-R-2; PACAP-R2; RDC1; V1RG;
                     VAPC1; VIP-R-1; VIPR; VIRG; VPAC1; VPAC1R; VPCAP1R"
                     /coded_by="XM_054347749.1:122..961"
                     /db_xref="GeneID:7433"
                     /db_xref="HGNC:HGNC:12694"
                     /db_xref="MIM:192321"
ORIGIN      
        1 mhlfisfilr aaavfikdla lfdsgesdqc segsvgckaa mvffqycvma nffwllvegl
       61 ylytllavsf fserkyfwgy iligwgvpst ftmvwtiari hfedygcwdt insslwwiik
      121 gpiltsilvn filficiiri llqklrppdi rksdsspysr larstlllip lfgvhyimfa
      181 ffpdnfkpev kmvfelvvgs fqgfvvaily cflngevqae lrrkwrrwhl qgvlgwnpky
      241 rhpsggsnga tcstqvsmlt rvspgarrss sfqaevslv
//
LOCUS       XP_054205118            1189 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptopodin-2 isoform X1 [Homo sapiens].
ACCESSION   XP_054205118
VERSION     XP_054205118.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349143.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1189
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1189
                     /product="synaptopodin-2 isoform X1"
                     /calculated_mol_wt=128610
     CDS             1..1189
                     /gene="SYNPO2"
                     /gene_synonym="SYISL"
                     /coded_by="XM_054349143.1:136..3705"
                     /db_xref="GeneID:171024"
                     /db_xref="HGNC:HGNC:17732"
ORIGIN      
        1 mesitdslqm likrpssgis ealisenenk nlehlthggy vesttlqirp atktqcteff
       61 lapvktevpl aenqrsgpdc agslkeetgp syqrapqmpd shrgrvaeel ilrekveavq
      121 pgpvvelqls lsqerhkgas gplvalpgae kskspdpdpn lshdrivhin siptnekadp
      181 flrsskiiqi ssgrelrviq eseagdaglp rvevildcsd rqktegcrlq agkecvdspv
      241 eggqseapps lvsfavsseg teqgedprse kdhsrphkhr arharlrrse slsekqvkea
      301 kskcksiall ltdapnpnsk gvlmfkkrrr rarkytlvsy gtgeleread eeeegdkedt
      361 cevaflgase sevdeellsd vddntqvvnf dwdsglvdie kklnrgdkme mlpdttgkga
      421 lmfakrrerm dqitaqkeed kvggtpsreq daaqtdglrt ttsyqrkeee svrtqssvsk
      481 syievshglg hvpqqngfsg asetaniqrm vpmnrtakpf pgsvnqpatp fsptrnmtsp
      541 iadfpapppy savtpppdaf srgvsspiag paqpppwpqp apwsqpafyd sseriasrde
      601 risvpakrtg ilqeakrrst tkpmftfkep kvspnpells llqnsegkrg tgaggdsgpe
      661 edylslgaea cnfmqsssak qktpppvapk pavkssssqp vtpvspvwsp gvaptqppaf
      721 ptsnpskgtv vssikiaqps ypparpastl nvagpfkgpq aavasqnytp kptvstptvn
      781 avqpgavgps nelpgmsgrg aqlfakrqsr mekyvvdsdt vqahaaraqs ptpslpaswk
      841 yssnvrappp vaynpihsps yplaalksqp saaqpskmgk kkgkkplnal dvmkhqpyql
      901 naslftfqpp dakdglpqks svkvnsalam kqalpprpvn aasptnvqas svysvpayts
      961 ppsffaeass pvsaspvpvg iptspkqesa sssyfvaprp kfsakksgvt iqesgrslsl
     1021 pgrsvpppis tspwvyqpty sysskptdgl ekankrptpw eaaaksplgl vddafqprni
     1081 qesivanvvs aarrkvlpgp pedwnerlsy ipqtqkaymg scgrqeynvt annnmsttsq
     1141 ygsqlpyayy rqasrndsai msmetrsdyc lpvadynynp hprgwrrqt
//
LOCUS       XP_054207367             790 aa            linear   PRI 20-MAR-2023
DEFINITION  cadherin-18 isoform X1 [Homo sapiens].
ACCESSION   XP_054207367
VERSION     XP_054207367.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351392.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..790
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..790
                     /product="cadherin-18 isoform X1"
                     /calculated_mol_wt=87942
     CDS             1..790
                     /gene="CDH18"
                     /gene_synonym="CDH14; CDH14L; CDH24"
                     /coded_by="XM_054351392.1:650..3022"
                     /db_xref="GeneID:1016"
                     /db_xref="HGNC:HGNC:1757"
                     /db_xref="MIM:603019"
ORIGIN      
        1 mkitstscic pvlvclcfvq rcygtahhss ikvmrnqtkh iegetevhhr pkrgwvwnqf
       61 fvleehmgpd pqyvgklhsn sdkgdgsvky iltgegagti fiiddttgdi hstksldreq
      121 kthyvlhaqa idrrtnkple pesefiikvq dindnapkft dgpyivtvpe msdmgtsvlq
      181 vtatdaddpt ygnsarvvys ilqgqpyfsv dpktgvirta lhnmdreare hysvviqakd
      241 magqvgglsg sttvnitltd vndnpprfpq khyqlyvpes aqvgsavgki kandadtgsn
      301 admtysiing dgmgifsist dketregils lkkplnyekk ksytlniega nthldfrfsh
      361 lgpfkdatml kiivgdvdep plfsmpsylm evyenakigt vvgtvlaqdp dstnslvryf
      421 inynveddrf fnidantgti rttkvldree tpwynitvta seidnpdlls hvtvgirvld
      481 vndnppelar eydiivcens kpgqvihtis atdkddfang prfnfflder lpvnpnftlk
      541 dnedntasil trrrrfsrtv qdvyylpimi sdggipslss sstltirvca cerdgrvrtc
      601 haeaflssag lstgaliail lcvlillaiv vlfitlrrsk kepliiseed vrenvvtydd
      661 egggeedtea fditalrnps aaeelkyrrd irpevkltpr hqtsstlesi dvqefikqrl
      721 aeadldpsvp pydslqtyay egqrseagsi ssldsattqs dqdyhylgdw gpefkklael
      781 ygeiesertt
//
LOCUS       XP_054210344             381 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF217 isoform X6 [Homo sapiens].
ACCESSION   XP_054210344
VERSION     XP_054210344.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354369.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..381
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..381
                     /product="E3 ubiquitin-protein ligase RNF217 isoform X6"
                     /calculated_mol_wt=39750
     CDS             1..381
                     /gene="RNF217"
                     /gene_synonym="C6orf172; dJ84N20.1; IBRDC1; OSTL"
                     /coded_by="XM_054354369.1:109..1254"
                     /db_xref="GeneID:154214"
                     /db_xref="HGNC:HGNC:21487"
                     /db_xref="MIM:618592"
ORIGIN      
        1 mgeeqstvsg gggpqesqtl asgtaghpep prpqgdsara pplraasaep sgggcgsdwg
       61 cadtsapepa rslgppgwsk srapaqpagl altgplnpqt lplqleleee eeeagdrkeg
      121 gdeqqeappg eeleprtrvg aadglvldvl gqrrpslakr qvfcsvycve sdlpeapase
      181 qlsppasppg appvlnppst rssfpsprls lptdslspdg gsielefyla pepfsmpsll
      241 gappysglgg vgdpyvplmv lmcrvcledk pikplpcckk avceeclkvy lsaqteshsv
      301 trlecsgmis ahgnlhipgs sdspasafrv vgttalltla legklhnegk sqvlcnlkhi
      361 qspandkrle dtsqellpfw r
//
LOCUS       XP_054212286            1265 aa            linear   PRI 20-MAR-2023
DEFINITION  valine--tRNA ligase isoform X1 [Homo sapiens].
ACCESSION   XP_054212286
VERSION     XP_054212286.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356311.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1265
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1265
                     /product="valine--tRNA ligase isoform X1"
                     /calculated_mol_wt=140464
     CDS             1..1265
                     /gene="VARS1"
                     /gene_synonym="G7A; NDMSCA; VARS; VARS2"
                     /coded_by="XM_054356311.1:241..4038"
                     /db_xref="GeneID:7407"
                     /db_xref="HGNC:HGNC:12651"
                     /db_xref="MIM:192150"
ORIGIN      
        1 mstlyvsphp dafpslrali aarygeageg pgwggahpri clqppptsrt sfppprlpal
       61 eqgpgglwvw gatavaqllw paglggpggs raavlvqqwv syadtelipa acgatlpalg
      121 lrssaqdpqa vlgalgrals pleewlrlht ylageaptla dlaavtalll pfryvldppa
      181 rriwnnvtrw fvtcvrqpef ravlgevvly sgarplshqp gpeapalpkt aaqlkkeakk
      241 reklekfqqk qkiqqqqppp geqkkpkpek rekrdpgvit ydlptppgek kdvsgpmpds
      301 yspryveaaw ypwweqqgff kpeygrpnvs aanprgvfmm cipppnvtgs lhlghaltna
      361 iqdsltrwhr mrgettlwnp gcdhagiatq vvvekklwre qglsrhqlgr eaflqevwkw
      421 keekgdriyh qlkklgssld wdracftmdp klsaavteaf vrlheegiiy rstrlvnwsc
      481 tlnsaisdie vdkkeltgrt llsvpgykek vefgvlvsfa ykvqgsdsde evvvattrie
      541 tmlgdvavav hpkdtryqhl kgknvihpfl srslpivfde fvdmdfgtga vkitpahdqn
      601 dyevgqrhgl eaisimdsrg alinvpppfl glprfearka vlvalkergl frgiednpmv
      661 vplcnrskdv vepllrpqwy vrcgemaqaa saavtrgdlr ilpeahqrtw hawmdnirew
      721 cisrqlwwgh ripayfvtvs dpavppgedp dgrywvsgrn eaearekaak efgvspdkis
      781 lqqdedvldt wfssglfpls ilgwpnqsed lsvfypgtll etghdilffw varmvmlglk
      841 ltgrlpfrev ylhaivrdah grkmskslgn vidpldviyg islqglhnql lnsnldpsev
      901 ekakegqkad fpagipecgt dalrfglcay msqgrdinld vnrilgyrhf cnklwnatkf
      961 alrglgkgfv psptsqpggh eslvdrwirs rlteavrlsn qgfqaydfpa vttaqysfwl
     1021 yelcdvylec lkpvlngvdq vaaecarqtl ytcldvglrl lspfmpfvte elfqrlprrm
     1081 pqappslcvt pypepsecsw kdpeaeaale lalsitravr slradynltr irpdcfleva
     1141 deatgalasa vsgyvqalas agvvavlalg apapqgcava lasdrcsihl qlqglvdpar
     1201 elgklqakrv eaqrqaqrlr erraasgypv kvplevqead eaklqqteae lrkvdeaial
     1261 fqkml
//
LOCUS       XP_054213792            1243 aa            linear   PRI 20-MAR-2023
DEFINITION  autism susceptibility gene 2 protein isoform X5 [Homo sapiens].
ACCESSION   XP_054213792
VERSION     XP_054213792.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357817.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1243
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1243
                     /product="autism susceptibility gene 2 protein isoform X5"
                     /calculated_mol_wt=136882
     CDS             1..1243
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
                     /coded_by="XM_054357817.1:1180..4911"
                     /db_xref="GeneID:26053"
                     /db_xref="HGNC:HGNC:14262"
                     /db_xref="MIM:607270"
ORIGIN      
        1 mdgptrghgl rkkrrsrsqr drerrsrggl gagaagggga grtralslas ssgsdkedng
       61 kppssapsrp rpprrkrres tsaeediidg famtsfvtfe alekdvalkp qervekrqtp
      121 ltkkkrealt nglsfhskks rlshphhyss drendrnlcq hlgkrkkmpk alrqlkpgqn
      181 scrdsdsesa sgeskgfhrs ssrerlsdss apsslgtgyf cdsdsdqeek asdasseklf
      241 ntvivnkdpe lgvgtlpehd sqdagpivpk isglersqek sqdcckepif epvvlkdpcp
      301 qvaqpipqpq tepqlrapsp dpdlvqrtea ppqppplstq ppqgppeaql qpapqpqvqr
      361 pprpqsptql lhqnlppvqa hpsaqslsqp lsaynsssls lnslssrsst paktqpapph
      421 ishhpsaspf plslpnhspl hsftptlqpp ahshhpnmfa pptalppppp ltsgslqvag
      481 hpagstyseq dilrqelntr flasqsadrg aslgpppylr tefhqhqhqh qhthqhthqh
      541 tftpfphaip ptaimptpap pmlfhsyppa vsgippmipp tgpfgslqga fqpktsnpid
      601 vaarpgtvph tllqkdprlt dpfrpmlrkp gkwcamhvhi awqiyhhqqk vkkqmqsdph
      661 kldfglkpef lsrppgpslf gaihhphdla rpstlfsaag aahptgtpfg ppphhsnfln
      721 paahlepfnr pstftglaav ggnafgglgn psvtpnsmfg hkdgpsvqnf snphepwnrl
      781 hrtppsfptp ppwlkpgele rsasaaahdr drdvdkrdss vskddkeres vekrhsshps
      841 papvlpvnal ghtrssteqi rahlnteare kdkpkererd hsesrkdlaa dehkakeghl
      901 pekdghgheg raageeakql arvpspyvrt pvvesarpns tssreaeprk gepayenpkk
      961 ssevkvkeer kedhdlppea pqthrasepp ppnssssvhp gplasmpmtv gvtgihpmns
     1021 issldrtrmm tpfmgisplp ggerfpypsf hwdpirdplr dpyreldihr rdplgrdfll
     1081 rndplhrlst prlyeadrsf rdrephdysh hhhhhhhpls vdprreherg ghldererlh
     1141 mlredyehtr lhsvhpasld ghlphpslit pglpsmhypr isptagnqng llnktpptaa
     1201 lsappplist lggrpvsprr ttplsaeire rppshtlkdi ear
//
LOCUS       XP_054215356             991 aa            linear   PRI 20-MAR-2023
DEFINITION  general transcription factor II-I repeat domain-containing protein
            1 isoform X3 [Homo sapiens].
ACCESSION   XP_054215356
VERSION     XP_054215356.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359381.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..991
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..991
                     /product="general transcription factor II-I repeat
                     domain-containing protein 1 isoform X3"
                     /calculated_mol_wt=109228
     CDS             1..991
                     /gene="GTF2IRD1"
                     /gene_synonym="BEN; CREAM1; GTF3; hMusTRD1alpha1; MUSTRD1;
                     RBAP2; WBS; WBSCR11; WBSCR12"
                     /coded_by="XM_054359381.1:278..3253"
                     /db_xref="GeneID:9569"
                     /db_xref="HGNC:HGNC:4661"
                     /db_xref="MIM:604318"
ORIGIN      
        1 mallgkrcdv ptngcgpdrw nsaftrkdei itslvsalds mcsalsklna evacvavhde
       61 safvvgtekg rmflnarkel qsdflrfcls aaqhraatsq legrvvrrvl tvasralcpt
      121 ggppwkdpea ehpkkvqrge gggrslprss lehgsdvyll rkmveevfdv lysealgras
      181 vvplpyerll repgllavqg lpeglafrrp aeydpkalma ilehshrirf klkrpledgg
      241 rdskalveln gvslipkgsr dcglhgqapk vppqdlppta tsssmasfly stalpnhair
      301 elkqeapscp lapsdlglsr pmpepkatga qdfsdccgqk ptgpggpliq nvhaskrilf
      361 sivhdksekw dafiketedi ntlrecvqil fnsryaealg ldhmvpvpyr kiacdpeave
      421 ivgipdkipf krpctygvpk lkrileerhs ihfiikrmfd eriftgnkft kdttklepas
      481 ppedtsaevs ratvldlagn arsdkgsmse dcgpgtsgel gglrpikiep edldiiqvtv
      541 pdpsptseem tdsmpghlps edsgygmeml tdkglsedar peerpvedsh gdvirplrkq
      601 vellfntrya kaigisepvk vpyskflmhp eelfvvglpe gislrrpncf giaklrkile
      661 asnsiqfvik rpelltegvk epimdsqgta sslgfsppal pperdsgdpl vdeslkrqgf
      721 qenydarlsr idiantlreq vqdlfnkkyg ealgikypvq vpykriksnp gsviieglpp
      781 gipfrkpctf gsqnlerila vadkikftvt rpfqglipkp deddanrlge kvilreqvke
      841 lfnekygeal glnrpvlvpy klirdspdav evtglpddip frnpntydih rlekilkare
      901 hvrmviinql qpfaeicnda kvpakdssip krkrkrvseg nsvsssssss sssssnpdsv
      961 asanqislvq wpmymvdyag lnvqlpgpln y
//
LOCUS       XP_054215772             672 aa            linear   PRI 20-MAR-2023
DEFINITION  heparan-alpha-glucosaminide N-acetyltransferase isoform X1 [Homo
            sapiens].
ACCESSION   XP_054215772
VERSION     XP_054215772.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359797.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..672
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..672
                     /product="heparan-alpha-glucosaminide N-acetyltransferase
                     isoform X1"
                     /calculated_mol_wt=74520
     CDS             1..672
                     /gene="HGSNAT"
                     /gene_synonym="HGNAT; MPS3C; RP73; TMEM76"
                     /coded_by="XM_054359797.1:34..2052"
                     /db_xref="GeneID:138050"
                     /db_xref="HGNC:HGNC:26527"
                     /db_xref="MIM:610453"
ORIGIN      
        1 msgagralaa lllaasvlsa allapggssg rdaqaapprd ldkkrhaelk mdqalllihn
       61 ellwtnltvy wkseccyhcl fqvlvnvpqs pkagkpsaaa asvstqhgsi lqlndtleek
      121 evcrleyrfg efgnysllvk nihngvseia cdlavnedpv dsnlpvsiaf liglaviivi
      181 sflrlllsld dfnnwiskai ssretdrlin selgspsrtd pldgdvqpat wrlsalpprl
      241 rsvdtfrgia lilmvfvnyg ggkywyfkha swngltvadl vfpwfvfimg ssiflsmtsi
      301 lqrgcskfrl lgkiawrsfl licigiiivn pnyclgplsw dkvripgvlq rlgvtyfvva
      361 vlellfakpv pehcasersc lslrditssw pqwllilvle glwlgltfll pvpgcptgyl
      421 gpggigdfgk ypnctggaag yidrlllgdd hlyqhpssav lyhtevaydp egilgtinsi
      481 vmaflgvqcc pdwvtkqacl teplsplwri lfgpclevra tepaqagkil lyykartkdi
      541 lirftawcci lglisvaltk vsenegfipv nknlwslsyv ttlssfaffi llvlypvvdv
      601 kglwtgtpff ypgmnsilvy vghevfenyf pfqwklkdnq shkehltqni vatalwvlia
      661 yilyrkkifw ki
//
LOCUS       XP_054183807             662 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 185 isoform X23 [Homo sapiens].
ACCESSION   XP_054183807
VERSION     XP_054183807.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327832.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..662
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..662
                     /product="zinc finger protein 185 isoform X23"
                     /calculated_mol_wt=70482
     CDS             1..662
                     /gene="ZNF185"
                     /gene_synonym="SCELL"
                     /coded_by="XM_054327832.1:232..2220"
                     /db_xref="GeneID:7739"
                     /db_xref="HGNC:HGNC:12976"
                     /db_xref="MIM:300381"
ORIGIN      
        1 msisalggrt kgkplppgee ernnvlkqmk vrttlkgdks witkqdeseg rtielpsgrs
       61 ratsfssage vpkprppstr aptgyiirgv ftkpidsssq pqqqfpkang tpksaaslvr
      121 tanagpprps ssgykmtted ykklapynir rsstsgdtee eeeeevvpfs sdeqkrrsea
      181 asgvlrrtap rehsyvlsaa kkstgptqet qapfiakrve vveedgpsek sqdppalars
      241 tpgsnrsspg nkdkeapcsr elqrdlagee afrapntdaa rssaqlsdgn vgsgatgsrp
      301 eglaavdigs ergrlcaaas fasfledqdg hsansqsckp rpaaisssat svsavpadrk
      361 snstaaqeda kadpkgalad yegkdvatrv geawqerpga prggqgdpav paqqpadpst
      421 perqsspsgs eqlvrrescg ssvltdfegk dvatkvgeaw qdrpgaprgg qgdpavptqq
      481 padpstpeqq nspsgseqfv rresctsrvr spsscmvtvt vtatseqphi yipapaseld
      541 sssttkgilf vkeyvnasev ssgkpvsary snvssiedsf amekkppcgs tpyserttgg
      601 ictycnreir dcpkitlehl giccheycfk cgicskpmgd lldqifihrd tihcgkcyek
      661 lf
//
LOCUS       XP_054184035             399 aa            linear   PRI 20-MAR-2023
DEFINITION  glycogenin-2 isoform X6 [Homo sapiens].
ACCESSION   XP_054184035
VERSION     XP_054184035.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328060.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..399
                     /product="glycogenin-2 isoform X6"
                     /calculated_mol_wt=44262
     CDS             1..399
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /coded_by="XM_054328060.1:243..1442"
                     /db_xref="GeneID:8908"
                     /db_xref="HGNC:HGNC:4700"
                     /db_xref="MIM:300198"
ORIGIN      
        1 msvtdqafvt latndiycqg alvlgqslrr hrltrklvvl itpqvssllr vilskvfdev
       61 ievnlidsad yihlaflkrp elgltltklh cwtlthyskc vfldadtlvl snvdelfdrg
      121 efsaapdpgw pdcfnsgvfv fqpslhthkl llqhamehgs fdgadqglln sffrnwsttd
      181 ihkhlpfiyn lssntmytys pafkqfgssa kvvhflgsmk pwnykynpqs gsvleqgsvs
      241 ssqhqaaflh lwwtvyqnnv lplyksvqag earaspghtl crsdvggpca dsasgvgepc
      301 enstpsagvp cansplgsnq paqglpeptq ivdetlslpe grrsedvdla vsvsqisiee
      361 kvkelspeee rrkweegrid ymgkdafari qekldrflq
//
LOCUS       XP_054184371             288 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-specific Y-encoded protein 3 isoform X3 [Homo sapiens].
ACCESSION   XP_054184371
VERSION     XP_054184371.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328396.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060948) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..288
                     /organism="Homo sapiens"
                     /isolate="NA24385"
                     /bio_material="CORIELL:NA24385"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /sex="male"
                     /tissue_type="B-Lymphocyte"
     Protein         1..288
                     /product="testis-specific Y-encoded protein 3 isoform X3"
                     /calculated_mol_wt=31734
     CDS             1..288
                     /gene="LOC128966595"
                     /coded_by="XM_054328396.1:47..913"
                     /db_xref="GeneID:128966595"
ORIGIN      
        1 mrpegsltyr vperlrqgfc gvgraaqalv casakegtaf rmeavqegaa gveseqaalg
       61 eeavlllddi maevevvaee eglverreea qraqqavpgp gpmtpesale ellavqvele
      121 pvnaqarkaf srqrekmerr rkphldrrga viqsvpgfwa nvianhpqms alitdededm
      181 lsymvsleve eekhpvhlck imlffrsnpy fqnkvitkey lvnitgllip lqlsgirimk
      241 wrpiaadttt aaltsstgsl tttsqdltrl lrsyvrtcga ipcnttrg
//
LOCUS       NP_004249               1021 aa            linear   PRI 21-MAR-2023
DEFINITION  immunoglobulin superfamily member 2 isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_004249
VERSION     NP_004249.2
DBSOURCE    REFSEQ: accession NM_004258.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1021)
  AUTHORS   Richert-Spuhler LE, Mar CM, Shinde P, Wu F, Hong T, Greene E, Hou
            S, Thomas K, Gottardo R, Mugo N, de Bruyn G, Celum C, Baeten JM,
            Lingappa JR and Lund JM.
  CONSRTM   Partners in Prevention HSV/HIV Transmission Study; and the Partners
            PrEP Study Teams
  TITLE     CD101 genetic variants modify regulatory and conventional T cell
            phenotypes and functions
  JOURNAL   Cell Rep Med 2 (6), 100322 (2021)
   PUBMED   34195685
  REMARK    GeneRIF: CD101 genetic variants modify regulatory and conventional
            T cell phenotypes and functions.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1021)
  AUTHORS   Wanga V, Mackelprang RD, Thomas KK, Donnell D, Cohen CR, Mugo NR,
            Bukusi EA, de Bruyn G, Irungu E, Celum C, Baeten JM and Lingappa
            JR.
  CONSRTM   Partners in Prevention HSV/HIV Transmission Study and the Partners
            PrEP Study
  TITLE     Brief Report: Bacterial Vaginosis and Risk of HIV Infection in the
            Context of CD101 Gene Variation
  JOURNAL   J Acquir Immune Defic Syndr 85 (5), 584-587 (2020)
   PUBMED   32976203
  REMARK    GeneRIF: Brief Report: Bacterial Vaginosis and Risk of HIV
            Infection in the Context of CD101 Gene Variation.
            Erratum:[J Acquir Immune Defic Syndr. 2021 Mar 1;86(3):387. PMID:
            33560747]
REFERENCE   3  (residues 1 to 1021)
  AUTHORS   Mackelprang RD, Bamshad MJ, Chong JX, Hou X, Buckingham KJ, Shively
            K, deBruyn G, Mugo NR, Mullins JI, McElrath MJ, Baeten JM, Celum C,
            Emond MJ and Lingappa JR.
  CONSRTM   Partners in Prevention HSV/HIV Transmission Study and the Partners
            PrEP Study Teams
  TITLE     Whole genome sequencing of extreme phenotypes identifies variants
            in CD101 and UBE2V1 associated with increased risk of sexually
            acquired HIV-1
  JOURNAL   PLoS Pathog 13 (11), e1006703 (2017)
   PUBMED   29108000
  REMARK    GeneRIF: variants in CD101 and UBE2V1 associated with increased
            risk of sexually acquired HIV-1
            Erratum:[PLoS Pathog. 2019 Feb 11;15(2):e1007588. PMID: 30742678]
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1021)
  AUTHORS   Okuno M, Kasahara Y, Onodera M, Takubo N, Okajima M, Suga S,
            Watanabe N, Suzuki J, Ayabe T, Urakami T, Kawamura T, Kikuchi N,
            Yokota I, Kikuchi T, Amemiya S, Nakabayashi K, Hayashi K, Hata K,
            Matsubara Y, Ogata T, Fukami M and Sugihara S.
  TITLE     Nucleotide substitutions in CD101, the human homolog of a diabetes
            susceptibility gene in non-obese diabetic mouse, in patients with
            type 1 diabetes
  JOURNAL   J Diabetes Investig 8 (3), 286-294 (2017)
   PUBMED   27888582
  REMARK    GeneRIF: Study shows nucleotide substitutions in CD101, the human
            homolog of a diabetes susceptibility gene in non-obese diabetic
            mouse, in patients with type 1 diabetes. The results raise the
            possibility that CD101 is a susceptibility gene for type 1
            diabetes.
REFERENCE   5  (residues 1 to 1021)
  AUTHORS   Schey R, Dornhoff H, Baier JL, Purtak M, Opoka R, Koller AK, Atreya
            R, Rau TT, Daniel C, Amann K, Bogdan C and Mattner J.
  TITLE     CD101 inhibits the expansion of colitogenic T cells
  JOURNAL   Mucosal Immunol 9 (5), 1205-1217 (2016)
   PUBMED   26813346
  REMARK    GeneRIF: In patients with intestinal bowel disease, a reduced CD101
            expression on peripheral and intestinal monocytes and CD4-positive
            Tcells correlated with enhanced IL-17 production and disease
            activity.
REFERENCE   6  (residues 1 to 1021)
  AUTHORS   Soares LR, Tsavaler L, Rivas A and Engleman EG.
  TITLE     V7 (CD101) ligation inhibits TCR/CD3-induced IL-2 production by
            blocking Ca2+ flux and nuclear factor of activated T cell nuclear
            translocation
  JOURNAL   J Immunol 161 (1), 209-217 (1998)
   PUBMED   9647226
REFERENCE   7  (residues 1 to 1021)
  AUTHORS   Bagot M, Martinel I, Charue D, Weill F, Boulland ML, Wechsler J,
            Freeman GJ, Bensussan A and Boumsell L.
  TITLE     CD101 is expressed by skin dendritic cells. Role in T-lymphocyte
            activation
  JOURNAL   Tissue Antigens 50 (5), 439-448 (1997)
   PUBMED   9389317
REFERENCE   8  (residues 1 to 1021)
  AUTHORS   Soares LR, Rivas A, Tsavaler L and Engleman EG.
  TITLE     Ligation of the V7 molecule on T cells blocks anergy induction
            through a CD28-independent mechanism
  JOURNAL   J Immunol 159 (3), 1115-1124 (1997)
   PUBMED   9233604
REFERENCE   9  (residues 1 to 1021)
  AUTHORS   Ruegg CL, Rivas A, Madani ND, Zeitung J, Laus R and Engleman EG.
  TITLE     V7, a novel leukocyte surface protein that participates in T cell
            activation. II. Molecular cloning and characterization of the V7
            gene
  JOURNAL   J Immunol 154 (9), 4434-4443 (1995)
   PUBMED   7722300
REFERENCE   10 (residues 1 to 1021)
  AUTHORS   Rivas A, Ruegg CL, Zeitung J, Laus R, Warnke R, Benike C and
            Engleman EG.
  TITLE     V7, a novel leukocyte surface protein that participates in T cell
            activation. I. Tissue distribution and functional studies
  JOURNAL   J Immunol 154 (9), 4423-4433 (1995)
   PUBMED   7722299
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL445231.8.
            On Sep 27, 2007 this sequence version replaced NP_004249.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1, 2 and 3
            all encode isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC130327.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
                                                with N-terminal localization
                                                signal
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1021
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.1"
     Protein         1..1021
                     /product="immunoglobulin superfamily member 2 isoform 1
                     precursor"
                     /note="leukocyte surface protein; immunoglobulin
                     superfamily member 2; cell surface glycoprotein V7;
                     glu-Trp-Ile EWI motif-containing protein 101"
                     /calculated_mol_wt=112995
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2132
     Region          19..142
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     mat_peptide     21..1021
                     /product="Immunoglobulin superfamily member 2.
                     /id=PRO_0000253539"
                     /note="propagated from UniProtKB/Swiss-Prot (Q93033.2)"
                     /calculated_mol_wt=112995
     Site            44
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q93033.2)"
     Region          150..254
                     /region_name="IgV"
                     /note="Immunoglobulin variable domain (IgV); cd00099"
                     /db_xref="CDD:409355"
     Region          150..169
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409355"
     Region          156..158
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409355"
     Region          162..170
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409355"
     Region          170..180
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409355"
     Site            order(180..181,183,252)
                     /site_type="other"
                     /note="antigen binding site [polypeptide binding]"
                     /db_xref="CDD:409355"
     Region          181..195
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409355"
     Region          181..187
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409355"
     Region          193..196
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409355"
     Region          196..217
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409355"
     Region          217..227
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409355"
     Region          218..251
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409355"
     Region          231..237
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409355"
     Region          245..252
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409355"
     Region          253..255
                     /region_name="EWI motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q93033.2)"
     Region          295..393
                     /region_name="IgV"
                     /note="Immunoglobulin variable domain (IgV); cd00099"
                     /db_xref="CDD:409355"
     Region          298..306
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409355"
     Region          306..313
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409355"
     Site            order(313..314,316,380)
                     /site_type="other"
                     /note="antigen binding site [polypeptide binding]"
                     /db_xref="CDD:409355"
     Site            order(314,316,320,322,328,330,374,376,378,388..389)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:409355"
     Region          314..330
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409355"
     Region          314..322
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409355"
     Site            322
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q93033.2)"
     Region          328..331
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409355"
     Region          331..350
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409355"
     Region          350..355
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409355"
     Region          351..379
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409355"
     Region          359..365
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409355"
     Region          373..380
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409355"
     Region          414..514
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          430..434
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          444..448
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          494..498
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          508..513
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          678..794
                     /region_name="IgV"
                     /note="Immunoglobulin variable domain (IgV); cd00099"
                     /db_xref="CDD:409355"
     Region          678..698
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409355"
     Region          678..681
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409355"
     Region          685..687
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409355"
     Region          691..699
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409355"
     Region          699..706
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409355"
     Site            order(706,710,712,781)
                     /site_type="other"
                     /note="antigen binding site [polypeptide binding]"
                     /db_xref="CDD:409355"
     Site            order(710,712,714,716,722,724,775,777,779,788..790)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:409355"
     Region          710..724
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409355"
     Region          710..716
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409355"
     Region          722..725
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409355"
     Region          725..751
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409355"
     Region          751..756
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409355"
     Region          752..780
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409355"
     Region          760..766
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409355"
     Region          774..781
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409355"
     Region          781..787
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409355"
     Region          787..794
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409355"
     Region          830..915
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          830..834
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          844..851
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          892..896
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          906..911
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            955..975
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q93033.2)"
     CDS             1..1021
                     /gene="CD101"
                     /gene_synonym="EWI-101; IGSF2; V7"
                     /coded_by="NM_004258.6:59..3124"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS891.1"
                     /db_xref="GeneID:9398"
                     /db_xref="HGNC:HGNC:5949"
                     /db_xref="MIM:604516"
ORIGIN      
        1 magisyvasf fllltklsig qrevtvqkgp lfraegypvs igcnvtghqg pseqhfqwsv
       61 ylptnptqev qiistkdaaf syavytqrvr sgdvyvervq gnsvllhisk lqmkdageye
      121 chtpntdeky ygsysaktnl ivipdtlsat mssqtlgkee geplaltcea skataqhthl
      181 svtwyltqdg ggsqateiis lskdfilvpg plyterfaas dvqlnklgpt tfrlsierlq
      241 ssdqgqlfce atewiqdpde twmfitkkqt dqttlriqpa vkdfqvnita dslfaegkpl
      301 elvclvvssg rdpqlqgiwf fngteiahid aggvlglknd ykerasqgel qvsklgpkaf
      361 slkifslgpe degayrcvva evmktrtgsw qvlqrkqspd shvhlrkpaa rsvvmstknk
      421 qqvvwegetl aflckaggae splsvswwhi prdqtqpefv agmgqdgivq lgasygvpsy
      481 hgntrlekmd watfqleitf taitdsgtye crvseksrnq ardlswtqki svtvksless
      541 lqvslmsrqp qvmltntfdl scvvragysd lkvpltvtwq fqpasshifh qlirithngt
      601 iewgnflsrf qkktkvsqsl frsqllvhda teeetgvyqc evevydrnsl ynnrpprasa
      661 ishplriavt lpesklkvns rsqvqelsin sntdiecsil srsngnlqla iiwyfspvst
      721 naswlkilem dqtnviktgd efhtpqrkqk fhtekvsqdl fqlhilnved sdrgkyhcav
      781 eewllstngt whklgekksg ltelklkptg skvrvskvyw tenvtehrev aircslesvg
      841 ssatlysvmw ywnrensgsk llvhlqhdgl leygeeglrr hlhcyrssst dfvlklhqve
      901 medagmywcr vaewqlhghp skwinqasde sqrmvltvlp septlpsric ssapllyflf
      961 icpfvlllll lisllclywk arklstlrsn trkekalwvd lkeaggvttn rredeeedeg
     1021 n
//
LOCUS       NP_001374761             187 aa            linear   PRI 21-MAR-2023
DEFINITION  muscleblind-like protein 1 isoform 40 [Homo sapiens].
ACCESSION   NP_001374761
VERSION     NP_001374761.1
DBSOURCE    REFSEQ: accession NM_001387832.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 187)
  AUTHORS   Tahraoui-Bories J, Merien A, Gonzalez-Barriga A, Laine J, Leteur C,
            Polveche H, Carteron A, De Lamotte JD, Nicoleau C, Polentes J,
            Jarrige M, Gomes-Pereira M, Ventre E, Poydenot P, Furling D,
            Schaeffer L, Legay C and Martinat C.
  TITLE     MBNL-dependent impaired development within the neuromuscular system
            in myotonic dystrophy type 1
  JOURNAL   Neuropathol Appl Neurobiol 49 (1), e12876 (2023)
   PUBMED   36575942
  REMARK    GeneRIF: MBNL-dependent impaired development within the
            neuromuscular system in myotonic dystrophy type 1.
REFERENCE   2  (residues 1 to 187)
  AUTHORS   Gonzalez AL, Fernandez-Remacha D, Borrell JI, Teixido J and
            Estrada-Tejedor R.
  TITLE     Cognate RNA-Binding Modes by the Alternative-Splicing Regulator
            MBNL1 Inferred from Molecular Dynamics
  JOURNAL   Int J Mol Sci 23 (24), 16147 (2022)
   PUBMED   36555788
  REMARK    GeneRIF: Cognate RNA-Binding Modes by the Alternative-Splicing
            Regulator MBNL1 Inferred from Molecular Dynamics.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 187)
  AUTHORS   Li H, Liu P, Li D, Wang Z, Ding Z, Zhou M, Chen X, Miao M, Ding J,
            Lin W, Liu Y and Zha X.
  TITLE     STAT3/miR-130b-3p/MBNL1 feedback loop regulated by mTORC1 signaling
            promotes angiogenesis and tumor growth
  JOURNAL   J Exp Clin Cancer Res 41 (1), 297 (2022)
   PUBMED   36217202
  REMARK    GeneRIF: STAT3/miR-130b-3p/MBNL1 feedback loop regulated by mTORC1
            signaling promotes angiogenesis and tumor growth.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 187)
  AUTHORS   Zhao Y, Song J, Dong W, Liu X, Yang C, Wang D, Xue Y, Ruan X, Liu
            L, Wang P, Zhang M and Liu Y.
  TITLE     The MBNL1/circNTRK2/PAX5 pathway regulates aerobic glycolysis in
            glioblastoma cells by encoding a novel protein NTRK2-243aa
  JOURNAL   Cell Death Dis 13 (9), 767 (2022)
   PUBMED   36064939
  REMARK    GeneRIF: The MBNL1/circNTRK2/PAX5 pathway regulates aerobic
            glycolysis in glioblastoma cells by encoding a novel protein
            NTRK2-243aa.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 187)
  AUTHORS   Liang C, Chang Z, Luo Y, Xu Y, Chen A and Zhang T.
  TITLE     MBNL1 and MRTF-A form a positive feedback loop in regulating the
            migration of esophageal cancer cells
  JOURNAL   J Cancer Res Ther 18 (5), 1312-1319 (2022)
   PUBMED   36204878
  REMARK    GeneRIF: MBNL1 and MRTF-A form a positive feedback loop in
            regulating the migration of esophageal cancer cells.
REFERENCE   6  (residues 1 to 187)
  AUTHORS   Kino Y, Mori D, Oma Y, Takeshita Y, Sasagawa N and Ishiura S.
  TITLE     Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats
  JOURNAL   Hum Mol Genet 13 (5), 495-507 (2004)
   PUBMED   14722159
REFERENCE   7  (residues 1 to 187)
  AUTHORS   Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS
            and Brook JD.
  TITLE     Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with
            nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
  JOURNAL   Hum Mol Genet 11 (7), 805-814 (2002)
   PUBMED   11929853
REFERENCE   8  (residues 1 to 187)
  AUTHORS   Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M,
            Henderson D, Schalling M, Swanson MS and Thornton CA.
  TITLE     Muscleblind localizes to nuclear foci of aberrant RNA in myotonic
            dystrophy types 1 and 2
  JOURNAL   Hum Mol Genet 10 (19), 2165-2170 (2001)
   PUBMED   11590133
REFERENCE   9  (residues 1 to 187)
  AUTHORS   Fardaei M, Larkin K, Brook JD and Hamshere MG.
  TITLE     In vivo co-localisation of MBNL protein with DMPK expanded-repeat
            transcripts
  JOURNAL   Nucleic Acids Res 29 (13), 2766-2771 (2001)
   PUBMED   11433021
REFERENCE   10 (residues 1 to 187)
  AUTHORS   Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ,
            Thornton CA and Swanson MS.
  TITLE     Recruitment of human muscleblind proteins to (CUG)(n) expansions
            associated with myotonic dystrophy
  JOURNAL   EMBO J 19 (17), 4439-4448 (2000)
   PUBMED   10970838
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC106722.5 and AC026347.17.
            
            Summary: This gene encodes a member of the muscleblind protein
            family which was initially described in Drosophila melanogaster.
            The encoded protein is a C3H-type zinc finger protein that
            modulates alternative splicing of pre-mRNAs. Muscleblind proteins
            bind specifically to expanded dsCUG RNA but not to normal size CUG
            repeats and may thereby play a role in the pathophysiology of
            myotonic dystrophy. Mice lacking this gene exhibited muscle
            abnormalities and cataracts. Several alternatively spliced
            transcript variants have been described but the full-length natures
            of only some have been determined. The different isoforms are
            thought to have different binding specificities and/or splicing
            activities. [provided by RefSeq, Sep 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..187
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.1-q25.2"
     Protein         1..187
                     /product="muscleblind-like protein 1 isoform 40"
                     /note="triplet-expansion RNA-binding protein;
                     muscleblind-like"
                     /calculated_mol_wt=19791
     Region          21..45
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     CDS             1..187
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /coded_by="NM_001387832.1:267..830"
                     /note="isoform 40 is encoded by transcript variant 102"
                     /db_xref="GeneID:4154"
                     /db_xref="HGNC:HGNC:6923"
                     /db_xref="MIM:606516"
ORIGIN      
        1 mamlaqqmql anammpgapl qpvvcreyqr gncnrgendc rfahpadstm idtndntvtv
       61 cmdyikgrcs rekckyfhpp ahlqakikaa qyqvnqaaaa qaaataaama lanmqlqqht
      121 aflppgsilc mtpatsvvpm vhgatpatvs aattsatsvp faatatanqi piisaehlts
      181 hkyvtqm
//
LOCUS       NP_001230157             677 aa            linear   PRI 22-MAR-2023
DEFINITION  transcription factor 4 isoform e [Homo sapiens].
ACCESSION   NP_001230157
VERSION     NP_001230157.1
DBSOURCE    REFSEQ: accession NM_001243228.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 677)
  AUTHORS   Popp B, Bienvenu T, Giurgea I, Metreau J, Kraus C, Reis A, Fischer
            J, Bralo MP, Tenorio-Castano J, Lapunzina P, Almoguera B,
            Lopez-Grondona F, Sticht H and Zweier C.
  TITLE     The recurrent TCF4 missense variant p.(Arg389Cys) causes a
            neurodevelopmental disorder overlapping with but not typical for
            Pitt-Hopkins syndrome
  JOURNAL   Clin Genet 102 (6), 517-523 (2022)
   PUBMED   35908153
  REMARK    GeneRIF: The recurrent TCF4 missense variant p.(Arg389Cys) causes a
            neurodevelopmental disorder overlapping with but not typical for
            Pitt-Hopkins syndrome.
REFERENCE   2  (residues 1 to 677)
  AUTHORS   Azmerin M, Hussain MS, Aziz MA, Barek MA, Begum M, Sen N, Rahman
            MA, Shahriar M, Baeesa SS, Ashraf GM and Islam MS.
  TITLE     TF and TCF4 gene polymorphisms are linked to autism spectrum
            disorder: a case-control study
  JOURNAL   J Int Med Res 50 (11), 3000605221138492 (2022)
   PUBMED   36448207
  REMARK    GeneRIF: TF and TCF4 gene polymorphisms are linked to autism
            spectrum disorder: a case-control study.
REFERENCE   3  (residues 1 to 677)
  AUTHORS   Mokhtari MA, Sargazi S, Saravani R, Heidari Nia M, Mirinejad S,
            Hadzsiev K, Bene J and Shakiba M.
  TITLE     Genetic Polymorphisms in miR-137 and Its Target Genes, TCF4 and
            CACNA1C, Contribute to the Risk of Bipolar Disorder: A Preliminary
            Case-Control Study and Bioinformatics Analysis
  JOURNAL   Dis Markers 2022, 1886658 (2022)
   PUBMED   36193501
  REMARK    GeneRIF: Genetic Polymorphisms in miR-137 and Its Target Genes,
            TCF4 and CACNA1C, Contribute to the Risk of Bipolar Disorder: A
            Preliminary Case-Control Study and Bioinformatics Analysis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 677)
  AUTHORS   Neogi K, Tewari M, Singh AK, Sharma K, Tej GNVC, Verma SS, Gupta SC
            and Nayak PK.
  TITLE     Transcription factor 4 expression and correlation with tumor
            progression in gallbladder cancer
  JOURNAL   J Cancer Res Ther 18 (3), 668-676 (2022)
   PUBMED   35900539
  REMARK    GeneRIF: Transcription factor 4 expression and correlation with
            tumor progression in gallbladder cancer.
REFERENCE   5  (residues 1 to 677)
  AUTHORS   Goldfarb AN, Lewandowska K and Shoham M.
  TITLE     Determinants of helix-loop-helix dimerization affinity. Random
            mutational analysis of SCL/tal
  JOURNAL   J Biol Chem 271 (5), 2683-2688 (1996)
   PUBMED   8576241
REFERENCE   6  (residues 1 to 677)
  AUTHORS   Sweetser,D.A., Elsharkawi,I., Yonker,L., Steeves,M., Parkin,K. and
            Thibert,R.
  TITLE     Pitt-Hopkins Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22934316
REFERENCE   7  (residues 1 to 677)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301612
REFERENCE   8  (residues 1 to 677)
  AUTHORS   Corneliussen B, Thornell A, Hallberg B and Grundstrom T.
  TITLE     Helix-loop-helix transcriptional activators bind to a sequence in
            glucocorticoid response elements of retrovirus enhancers
  JOURNAL   J Virol 65 (11), 6084-6093 (1991)
   PUBMED   1681116
REFERENCE   9  (residues 1 to 677)
  AUTHORS   Henthorn P, McCarrick-Walmsley R and Kadesch T.
  TITLE     Sequence of the cDNA encoding ITF-2, a positive-acting
            transcription factor
  JOURNAL   Nucleic Acids Res 18 (3), 678 (1990)
   PUBMED   2308860
REFERENCE   10 (residues 1 to 677)
  AUTHORS   Henthorn P, Kiledjian M and Kadesch T.
  TITLE     Two distinct transcription factors that bind the immunoglobulin
            enhancer microE5/kappa 2 motif
  JOURNAL   Science 247 (4941), 467-470 (1990)
   PUBMED   2105528
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK299169.1, AK315074.1 and
            AC091103.4.
            
            Summary: This gene encodes transcription factor 4, a basic
            helix-loop-helix transcription factor. The encoded protein
            recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a
            motif first identified in immunoglobulin enhancers. This gene is
            broadly expressed, and may play an important role in nervous system
            development. Defects in this gene are a cause of Pitt-Hopkins
            syndrome. In addition, an intronic CTG repeat normally numbering
            10-37 repeat units can expand to >50 repeat units and cause Fuchs
            endothelial corneal dystrophy. Multiple alternatively spliced
            transcript variants that encode different proteins have been
            described. [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (5) differs in the 5' UTR and
            coding sequence and uses an alternate in-frame splice site at the
            5' end of an exon compared to variant 3. The resulting isoform (e)
            is shorter at the N-terminus and contains an alternate internal
            segment compared to isoform c.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments. Sequence
            Note: This gene is distinct from TCF7L2 (alias TCF-4).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AK315074.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..677
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.2"
     Protein         1..677
                     /product="transcription factor 4 isoform e"
                     /note="immunoglobulin transcription factor 2; SL3-3
                     enhancer factor 2; class B basic helix-loop-helix protein
                     19"
                     /calculated_mol_wt=72302
     Region          1..83
                     /region_name="Essential for MYOD1 inhibition.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P15884.3)"
     Region          18..26
                     /region_name="9aaTAD"
                     /note="propagated from UniProtKB/Swiss-Prot (P15884.3)"
     Site            66
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P15884.3)"
     Site            87
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P15884.3)"
     Site            92
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P15884.3)"
     Region          269..327
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P15884.3)"
     Region          342..385
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P15884.3)"
     Site            378
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q62655; propagated from
                     UniProtKB/Swiss-Prot (P15884.3)"
     Region          385..406
                     /region_name="Leucine-zipper"
                     /note="propagated from UniProtKB/Swiss-Prot (P15884.3)"
     Site            521
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P15884.3)"
     Region          568..652
                     /region_name="bHLH_E-protein_TCF4_E2-2"
                     /note="basic helix-loop-helix (bHLH) domain found in
                     transcription factor 4 (TCF-4) and similar proteins;
                     cd18945"
                     /db_xref="CDD:381515"
     Site            order(576,580,582..584,586,591,612..613)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381515"
     Site            order(589..590,593..594,596..597,600,604,614,617,621,624,
                     627..632)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381515"
     Region          629..652
                     /region_name="Class A specific domain"
                     /note="propagated from UniProtKB/Swiss-Prot (P15884.3)"
     Region          644..677
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P15884.3)"
     CDS             1..677
                     /gene="TCF4"
                     /gene_synonym="bHLHb19; CDG2T; E2-2; FCD2; FECD3; ITF-2;
                     ITF2; PTHS; SEF-2; SEF2; SEF2-1; SEF2-1A; SEF2-1B;
                     SEF2-1D; TCF-4"
                     /coded_by="NM_001243228.2:536..2569"
                     /note="isoform e is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS58630.1"
                     /db_xref="GeneID:6925"
                     /db_xref="HGNC:HGNC:11634"
                     /db_xref="MIM:602272"
ORIGIN      
        1 mhhqqrmaal gtdkelsdll dfsamfsppv ssgkngptsl asghftgsnv edrsssgswg
       61 ngghpspsrn ygdgtpydhm tsrdlgshdn lsppfvnsri qsktergsys sygresnlqg
      121 chqqsllggd mdmgnpgtls ptkpgsqyyq yssnnprrrp lhssamevqt kkvrkvppgl
      181 psslvlspqv yapsastady nrdspgypss kpatstfpss ffmqdghhss dpwssssgmn
      241 qpgyagmlgn sshipqsssy cslhpherls ypshssadin sslppmstfh rsgtnhysts
      301 sctppangtd simanrgsga agssqtgdal gkalasiysp dhtnnsfssn pstpvgspps
      361 lsagtavwsr nggqassspn yegplhslqs riedrlerld daihvlrnha vgpstampgg
      421 hgdmhgiigp shngamgglg sgygtgllsa nrhslmvgth redgvalrgs hsllpnqvpv
      481 pqlpvqsats pdlnppqdpy rgmppglqgq svssgsseik sddegdenlq dtkssedkkl
      541 dddkkdiksi trsrssnndd edltpeqkae rekerrmann arerlrvrdi neafkelgrm
      601 vqlhlksdkp qtkllilhqa vavilsleqq vrernlnpka aclkrreeek vsseppplsl
      661 agphpgmgda snhmgqm
//
LOCUS       NP_037421                444 aa            linear   PRI 24-MAR-2023
DEFINITION  killer cell immunoglobulin-like receptor 3DL1 isoform 1 precursor
            [Homo sapiens].
ACCESSION   NP_037421 NP_055329 XP_005277317 XP_498425
VERSION     NP_037421.2
DBSOURCE    REFSEQ: accession NM_013289.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 444)
  AUTHORS   Wang R, Sun Y, Kuang BH, Yan X, Lei J, Lin YX, Tian J, Li Y, Xie X,
            Chen T, Zhang H, Zeng YX, Zhao J and Feng L.
  TITLE     HLA-Bw4 in association with KIR3DL1 favors natural killer
            cell-mediated protection against severe COVID-19
  JOURNAL   Emerg Microbes Infect 12 (1), 2185467 (2023)
   PUBMED   36849422
  REMARK    GeneRIF: HLA-Bw4 in association with KIR3DL1 favors natural killer
            cell-mediated protection against severe COVID-19.
REFERENCE   2  (residues 1 to 444)
  AUTHORS   Naruse TK, Konishi-Takemura M, Yanagida R, Sharma G, Vajpayee M,
            Terunuma H, Mehra NK, Kaur G and Kimura A.
  TITLE     Killer cell immunoglobulin-like receptor three domains long
            cytoplasmic tail 1 gene *007 may modulate disease progression of
            human immunodeficiency virus-1 infection in the Japanese population
  JOURNAL   Int J Immunogenet 50 (2), 48-52 (2023)
   PUBMED   36807537
  REMARK    GeneRIF: Killer cell immunoglobulin-like receptor three domains
            long cytoplasmic tail 1 gene *007 may modulate disease progression
            of human immunodeficiency virus-1 infection in the Japanese
            population.
REFERENCE   3  (residues 1 to 444)
  AUTHORS   Margolis DJ, Mitra N, Hoffstad OJ, Chopra A and Phillips EJ.
  TITLE     KIR Allelic Variation and the Remission of Atopic Dermatitis Over
            Time
  JOURNAL   Immunohorizons 7 (1), 30-40 (2023)
   PUBMED   36637513
  REMARK    GeneRIF: KIR Allelic Variation and the Remission of Atopic
            Dermatitis Over Time.
REFERENCE   4  (residues 1 to 444)
  AUTHORS   Pollock NR, Harrison GF and Norman PJ.
  TITLE     Immunogenomics of Killer Cell Immunoglobulin-Like Receptor (KIR)
            and HLA Class I: Coevolution and Consequences for Human Health
  JOURNAL   J Allergy Clin Immunol Pract 10 (7), 1763-1775 (2022)
   PUBMED   35561968
  REMARK    GeneRIF: Immunogenomics of Killer Cell Immunoglobulin-Like Receptor
            (KIR) and HLA Class I: Coevolution and Consequences for Human
            Health.
REFERENCE   5  (residues 1 to 444)
  AUTHORS   Harrison GF, Leaton LA, Harrison EA, Kichula KM, Viken MK, Shortt
            J, Gignoux CR, Lie BA, Vukcevic D, Leslie S and Norman PJ.
  TITLE     Allele imputation for the killer cell immunoglobulin-like receptor
            KIR3DL1/S1
  JOURNAL   PLoS Comput Biol 18 (2), e1009059 (2022)
   PUBMED   35192601
  REMARK    GeneRIF: Allele imputation for the killer cell immunoglobulin-like
            receptor KIR3DL1/S1.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 444)
  AUTHORS   Dohring C, Samaridis J and Colonna M.
  TITLE     Alternatively spliced forms of human killer inhibitory receptors
  JOURNAL   Immunogenetics 44 (3), 227-230 (1996)
   PUBMED   8662091
REFERENCE   7  (residues 1 to 444)
  AUTHORS   D'Andrea A, Chang C, Franz-Bacon K, McClanahan T, Phillips JH and
            Lanier LL.
  TITLE     Molecular cloning of NKB1. A natural killer cell receptor for HLA-B
            allotypes
  JOURNAL   J Immunol 155 (5), 2306-2310 (1995)
   PUBMED   7650366
REFERENCE   8  (residues 1 to 444)
  AUTHORS   Wagtmann N, Biassoni R, Cantoni C, Verdiani S, Malnati MS, Vitale
            M, Bottino C, Moretta L, Moretta A and Long EO.
  TITLE     Molecular clones of the p58 NK cell receptor reveal
            immunoglobulin-related molecules with diversity in both the extra-
            and intracellular domains
  JOURNAL   Immunity 2 (5), 439-449 (1995)
   PUBMED   7749980
REFERENCE   9  (residues 1 to 444)
  AUTHORS   Colonna M and Samaridis J.
  TITLE     Cloning of immunoglobulin-superfamily members associated with HLA-C
            and HLA-B recognition by human natural killer cells
  JOURNAL   Science 268 (5209), 405-408 (1995)
   PUBMED   7716543
REFERENCE   10 (residues 1 to 444)
  AUTHORS   Litwin V, Gumperz J, Parham P, Phillips JH and Lanier LL.
  TITLE     NKB1: a natural killer cell receptor involved in the recognition of
            polymorphic HLA-B molecules
  JOURNAL   J Exp Med 180 (2), 537-543 (1994)
   PUBMED   8046332
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC245128.3.
            On or before Aug 31, 2013 this sequence version replaced
            XP_005277317.1, NP_037421.1.
            
            Summary: Killer cell immunoglobulin-like receptors (KIRs) are
            transmembrane glycoproteins expressed by natural killer cells and
            subsets of T cells. The KIR genes are polymorphic and highly
            homologous and they are found in a cluster on chromosome 19q13.4
            within the 1 Mb leukocyte receptor complex (LRC). The gene content
            of the KIR gene cluster varies among haplotypes, although several
            'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1,
            KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of
            extracellular immunoglobulin domains (2D or 3D) and by whether they
            have a long (L) or short (S) cytoplasmic domain. KIR proteins with
            the long cytoplasmic domain transduce inhibitory signals upon
            ligand binding via an immune tyrosine-based inhibitory motif
            (ITIM), while KIR proteins with the short cytoplasmic domain lack
            the ITIM motif and instead associate with the TYRO protein tyrosine
            kinase binding protein to transduce activating signals. The ligands
            for several KIR proteins are subsets of HLA class I molecules;
            thus, KIR proteins are thought to play an important role in
            regulation of the immune response. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the reference
            genome allele of the KIR3DL1 gene.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: L41269.1, BC028206.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000391728.8/ ENSP00000375608.4
            RefSeq Select criteria :: based on manual assertion, longest
                                      protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..444
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..444
                     /product="killer cell immunoglobulin-like receptor 3DL1
                     isoform 1 precursor"
                     /note="natural killer-associated transcript 3; killer cell
                     immunoglobulin-like receptor, three domains, long
                     cytoplasmic tail, 1; p70 killer cell inhibitory receptor;
                     killer cell immunoglobulin-like receptor 3DL1; KIR antigen
                     3DL1; p70 NK receptor CL-2/CL-11; CD158 antigen-like
                     family member E; HLA-BW4-specific inhibitory NK cell
                     receptor; p70 natural killer cell receptor clones
                     CL-2/CL-11"
                     /calculated_mol_wt=46906
     sig_peptide     1..21
                     /note="/evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (P43629.1)"
                     /calculated_mol_wt=2210
     mat_peptide     22..444
                     /product="Killer cell immunoglobulin-like receptor 3DL1.
                     /id=PRO_0000015087"
                     /note="propagated from UniProtKB/Swiss-Prot (P43629.1)"
                     /calculated_mol_wt=46906
     Region          28..117
                     /region_name="IgC2_D2_LILR_KIR_like"
                     /note="Second immunoglobulin (Ig)-like domain found in
                     Leukocyte Ig-like receptors, Natural killer inhibitory
                     receptors (KIRs) and similar domains; member of
                     Immunoglobulin Constant-2 set of IgSF domains; cd05711"
                     /db_xref="CDD:409376"
     Region          29..33
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409376"
     Region          37..40
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409376"
     Region          43..50
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409376"
     Region          57..62
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409376"
     Region          72..74
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409376"
     Region          79..83
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409376"
     Region          91..97
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409376"
     Site            92
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22020283; propagated from
                     UniProtKB/Swiss-Prot (P43629.1)"
     Region          110..117
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409376"
     Region          123..217
                     /region_name="IgC2_D2_LILR_KIR_like"
                     /note="Second immunoglobulin (Ig)-like domain found in
                     Leukocyte Ig-like receptors, Natural killer inhibitory
                     receptors (KIRs) and similar domains; member of
                     Immunoglobulin Constant-2 set of IgSF domains; cd05711"
                     /db_xref="CDD:409376"
     Region          124..128
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409376"
     Region          132..135
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409376"
     Region          138..145
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409376"
     Region          152..157
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409376"
     Region          172..174
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409376"
     Region          179..183
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409376"
     Site            179
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22020283; propagated from
                     UniProtKB/Swiss-Prot (P43629.1)"
     Region          191..197
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409376"
     Region          210..217
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409376"
     Region          223..311
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          240..244
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          252..256
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            273
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22020283; propagated from
                     UniProtKB/Swiss-Prot (P43629.1)"
     Region          278..282
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          290..295
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          308..311
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          315..334
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P43629.1)"
     Site            341..360
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P43629.1)"
     Region          375..394
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P43629.1)"
     Region          409..444
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P43629.1)"
     CDS             1..444
                     /gene="KIR3DL1"
                     /gene_synonym="CD158E1; KIR; KIR2DL5B; KIR3DL1/S1; NKAT-3;
                     NKAT3; NKB1; NKB1B"
                     /coded_by="NM_013289.4:34..1368"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1 (reference allele)"
                     /db_xref="CCDS:CCDS42621.1"
                     /db_xref="GeneID:3811"
                     /db_xref="HGNC:HGNC:6338"
                     /db_xref="MIM:604946"
ORIGIN      
        1 mslmvvsmac vglflvqrag phmggqdkpf lsawpsavvp rgghvtlrch yrhrfnnfml
       61 ykedrihipi fhgrifqesf nmspvttaha gnytcrgshp hsptgwsaps npvvimvtgn
      121 hrkpsllahp gplvksgerv ilqcwsdimf ehfflhkegi skdpsrlvgq ihdgvskanf
      181 sigpmmlala gtyrcygsvt htpyqlsaps dpldivvtgp yekpslsaqp gpkvqagesv
      241 tlscssrssy dmyhlsregg aherrlpavr kvnrtfqadf plgpathggt yrcfgsfrhs
      301 pyewsdpsdp llvsvtgnps sswpspteps sksgnprhlh iligtsvvii lfilllffll
      361 hlwcsnkkna avmdqepagn rtansedsde qdpeevtyaq ldhcvftqrk itrpsqrpkt
      421 pptdtilyte lpnakprskv vscp
//
LOCUS       NP_203748                883 aa            linear   PRI 25-MAR-2023
DEFINITION  probable ribonuclease ZC3H12C isoform 1 [Homo sapiens].
ACCESSION   NP_203748 XP_370654 XP_936724 XP_943575
VERSION     NP_203748.1
DBSOURCE    REFSEQ: accession NM_033390.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 883)
  AUTHORS   Liu B, Huang J, Ashraf A, Rahaman O, Lou J, Wang L, Cai P, Wen J,
            Anwaar S, Liu X, Ni H, Ganguly D, Zhao J and Yang CY.
  TITLE     The RNase MCPIP3 promotes skin inflammation by orchestrating
            myeloid cytokine response
  JOURNAL   Nat Commun 12 (1), 4105 (2021)
   PUBMED   34215755
  REMARK    GeneRIF: The RNase MCPIP3 promotes skin inflammation by
            orchestrating myeloid cytokine response.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 883)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 883)
  AUTHORS   Chaudhry M, Wang X, Bamne MN, Hasnain S, Demirci FY, Lopez OL and
            Kamboh MI.
  TITLE     Genetic variation in imprinted genes is associated with risk of
            late-onset Alzheimer's disease
  JOURNAL   J Alzheimers Dis 44 (3), 989-994 (2015)
   PUBMED   25391383
  REMARK    GeneRIF: The Gene-based analyses revealed four significant
            associations in the WT1, ZC3H12C, DLGAP2, and GPR1 genes at p <
            0.05. in this study.
REFERENCE   4  (residues 1 to 883)
  AUTHORS   Liu L, Zhou Z, Huang S, Guo Y, Fan Y, Zhang J, Zhang J, Fu M and
            Chen YE.
  TITLE     Zc3h12c inhibits vascular inflammation by repressing NF-kappaB
            activation and pro-inflammatory gene expression in endothelial
            cells
  JOURNAL   Biochem J 451 (1), 55-60 (2013)
   PUBMED   23360436
  REMARK    GeneRIF: Thus Zc3h12c is an endogenous inhibitor of
            TNFalpha-induced inflammatory signalling in HUVECs and might be a
            therapeutic target in vascular inflammatory diseases.
REFERENCE   5  (residues 1 to 883)
  AUTHORS   Liang J, Wang J, Azfer A, Song W, Tromp G, Kolattukudy PE and Fu M.
  TITLE     A novel CCCH-zinc finger protein family regulates proinflammatory
            activation of macrophages
  JOURNAL   J Biol Chem 283 (10), 6337-6346 (2008)
   PUBMED   18178554
  REMARK    GeneRIF: MCPIP1, 2, 3, and 4, encoded by four genes, Zc3h12a,
            Zc3h12b, Zc3h12c, and Zc3h12d, respectively, regulates macrophage
            activation.
REFERENCE   6  (residues 1 to 883)
  AUTHORS   Vasan RS, Larson MG, Aragam J, Wang TJ, Mitchell GF, Kathiresan S,
            Newton-Cheh C, Vita JA, Keyes MJ, O'Donnell CJ, Levy D and Benjamin
            EJ.
  TITLE     Genome-wide association of echocardiographic dimensions, brachial
            artery endothelial function and treadmill exercise responses in the
            Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S2 (2007)
   PUBMED   17903301
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 883)
  AUTHORS   Anantharaman V and Aravind L.
  TITLE     The NYN domains: novel predicted RNAses with a PIN domain-like fold
  JOURNAL   RNA Biol 3 (1), 18-27 (2006)
   PUBMED   17114934
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001889.5, AB096241.1, AL832893.1 and AP000901.5.
            On or before Jun 26, 2007 this sequence version replaced
            XP_936724.2, XP_370654.2, XP_943575.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK295437.1, SRR1803614.237135.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278590.8/ ENSP00000278590.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..883
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3"
     Protein         1..883
                     /product="probable ribonuclease ZC3H12C isoform 1"
                     /note="MCP-induced protein 3; probable ribonuclease
                     ZC3H12C; zinc finger CCCH domain-containing protein 12C"
                     /calculated_mol_wt=99210
     Region          53..109
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0D7.2)"
     Region          139..158
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0D7.2)"
     Region          162..203
                     /region_name="UBA_6"
                     /note="UBA-like domain; pfam18039"
                     /db_xref="CDD:407876"
     Site            230
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9C0D7.2)"
     Region          248..378
                     /region_name="PIN_Zc3h12-like"
                     /note="PRORP-like PIN domain of ribonuclease Zc3h12a and
                     related proteins; cd18729"
                     /db_xref="CDD:350296"
     Region          415..433
                     /region_name="zf-CCCH_2"
                     /note="RNA-binding, Nab2-type zinc finger; pfam14608"
                     /db_xref="CDD:434069"
     Region          456..551
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0D7.2)"
     Region          680..738
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0D7.2)"
     Region          754..775
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0D7.2)"
     Region          835..878
                     /region_name="Regnase_1_C"
                     /note="Endoribonuclease Regnase 1/ ZC3H12 C-terminal
                     domain; pfam18561"
                     /db_xref="CDD:436579"
     CDS             1..883
                     /gene="ZC3H12C"
                     /gene_synonym="MCPIP3"
                     /coded_by="NM_033390.2:21..2672"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS44727.1"
                     /db_xref="GeneID:85463"
                     /db_xref="HGNC:HGNC:29362"
                     /db_xref="MIM:615001"
ORIGIN      
        1 mpgggsqeyg vlciqeyrkn skvesstrnn fmglkdhlgh dlghlyvest dpqlspavpw
       61 stvenpsmdt vnvgkdekea seenassgds eentnsdhes eqlgsisvep glitkthrql
      121 crspclephi lkrneilqdf kpeesqttsk eakkppdvvr eyqtklefal klgyseeqvq
      181 lvlnklgtda lindilgelv klgnkseadq tvstintitr etsslesqrs espmqeivtd
      241 dgenlrpivi dgsnvamshg nkevfscrgi klavdwfler ghkditvfvp awrkeqsrpd
      301 alitdqeilr klekekilvf tpsrrvqgrr vvcyddrfiv klafesdgii vsndnyrdla
      361 nekpewkkfi derllmysfv ndkfmppddp lgrhgpsldn flrkkpivpe hkkqpcpygk
      421 kctyghkcky yhpergsqpq rsvadelram srntaaktan egglvksnsv pcstkadsts
      481 dvkrgapkrq sdpsirtqvy qdleeklptk nkletrsvps lvsipatsta kpqsttslsn
      541 glpsgvhfpp qdqrpqgqyp smmmatknhg tpmpyeqypk cdspvdigyy smlnaysnls
      601 lsgprsperr fsldtdyris svasdcsseg smscgssdsy vgyndrsyvs spdpqleenl
      661 kcqhmhphsr lnpqpflqnf hdpltrgqsy sheepkfhhk pplphlalhl phsavgarss
      721 cpgdypspps sahskaphlg rslvatrids isdsrlydss psrqrkpysr qeglgswerp
      781 gygidaygyr qtyslpdnst qpcyeqftfq slpeqqepaw ripycgmpqd ppryqdnrek
      841 iyinlcnifp pdlvrivmkr nphmtdaqql aaailveksq lgy
//
LOCUS       NP_001399987            1033 aa            linear   PRI 26-MAR-2023
DEFINITION  plasma membrane calcium-transporting ATPase 1 isoform 15 [Homo
            sapiens].
ACCESSION   NP_001399987
VERSION     NP_001399987.1
DBSOURCE    REFSEQ: accession NM_001413058.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1033)
  AUTHORS   Yang X, Lu L, Wu C and Zhang F.
  TITLE     ATP2B1-AS1 exacerbates sepsis-induced cell apoptosis and
            inflammation by regulating miR-23a-3p/TLR4 axis
  JOURNAL   Allergol Immunopathol (Madr) 51 (2), 17-26 (2023)
   PUBMED   36916084
  REMARK    GeneRIF: ATP2B1-AS1 exacerbates sepsis-induced cell apoptosis and
            inflammation by regulating miR-23a-3p/TLR4 axis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1033)
  AUTHORS   Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz
            F, Morleo M, Nigro V, Maitz S, Mancini GMS, Ruivenkamp C, Suk EK,
            Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D,
            Stegmann APA, Sinnema M, Duynisveld I, Salvarinova R, Race S, de
            Vries BBA, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N,
            Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Abou
            Jamra R and Oppermann H.
  TITLE     De novo variants in ATP2B1 lead to neurodevelopmental delay
  JOURNAL   Am J Hum Genet 109 (5), 944-952 (2022)
   PUBMED   35358416
  REMARK    GeneRIF: De novo variants in ATP2B1 lead to neurodevelopmental
            delay.
REFERENCE   3  (residues 1 to 1033)
  AUTHORS   Zhou ZY, Wang XJ and Chen GZ.
  TITLE     ATP2B1 gene rs71454161, rs73196661 and rs73196675 polymorphisms in
            eclampsia
  JOURNAL   Eur Rev Med Pharmacol Sci 26 (4), 1255-1262 (2022)
   PUBMED   35253182
  REMARK    GeneRIF: ATP2B1 gene rs71454161, rs73196661 and rs73196675
            polymorphisms in eclampsia.
REFERENCE   4  (residues 1 to 1033)
  AUTHORS   Khoshbakht S, Mokhtari M, Moravveji SS, Azimzadeh Jamalkandi S and
            Masoudi-Nejad A.
  TITLE     Re-wiring and gene expression changes of AC025034.1 and ATP2B1 play
            complex roles in early-to-late breast cancer progression
  JOURNAL   BMC Genom Data 23 (1), 6 (2022)
   PUBMED   35031021
  REMARK    GeneRIF: Re-wiring and gene expression changes of AC025034.1 and
            ATP2B1 play complex roles in early-to-late breast cancer
            progression.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1033)
  AUTHORS   Althwab SA, Ahmed AA, Rasheed Z, Alkhowailed M, Hershan A, Alsagaby
            S, Alblihed MA, Alaqeel A, Alrehaili J, Alhumaydhi FA, Alkhamiss A
            and Abdulmonem WA.
  TITLE     ATP2B1 genotypes rs2070759 and rs2681472 polymorphisms and risk of
            hypertension in Saudi population
  JOURNAL   Nucleosides Nucleotides Nucleic Acids 40 (11), 1075-1089 (2021)
   PUBMED   34486947
  REMARK    GeneRIF: ATP2B1 genotypes rs2070759 and rs2681472 polymorphisms and
            risk of hypertension in Saudi population.
REFERENCE   6  (residues 1 to 1033)
  AUTHORS   Kessler F, Falchetto R, Heim R, Meili R, Vorherr T, Strehler EE and
            Carafoli E.
  TITLE     Study of calmodulin binding to the alternatively spliced C-terminal
            domain of the plasma membrane Ca2+ pump
  JOURNAL   Biochemistry 31 (47), 11785-11792 (1992)
   PUBMED   1332771
REFERENCE   7  (residues 1 to 1033)
  AUTHORS   Wang KK, Wright LC, Machan CL, Allen BG, Conigrave AD and
            Roufogalis BD.
  TITLE     Protein kinase C phosphorylates the carboxyl terminus of the plasma
            membrane Ca(2+)-ATPase from human erythrocytes
  JOURNAL   J Biol Chem 266 (14), 9078-9085 (1991)
   PUBMED   1827443
REFERENCE   8  (residues 1 to 1033)
  AUTHORS   Olson S, Wang MG, Carafoli E, Strehler EE and McBride OW.
  TITLE     Localization of two genes encoding plasma membrane
            Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and
            12q21-23
  JOURNAL   Genomics 9 (4), 629-641 (1991)
   PUBMED   1674727
REFERENCE   9  (residues 1 to 1033)
  AUTHORS   Strehler EE, Strehler-Page MA, Vogel G and Carafoli E.
  TITLE     mRNAs for plasma membrane calcium pump isoforms differing in their
            regulatory domain are generated by alternative splicing that
            involves two internal donor sites in a single exon
  JOURNAL   Proc Natl Acad Sci U S A 86 (18), 6908-6912 (1989)
   PUBMED   2528729
REFERENCE   10 (residues 1 to 1033)
  AUTHORS   James PH, Pruschy M, Vorherr TE, Penniston JT and Carafoli E.
  TITLE     Primary structure of the cAMP-dependent phosphorylation site of the
            plasma membrane calcium pump
  JOURNAL   Biochemistry 28 (10), 4253-4258 (1989)
   PUBMED   2548572
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009522.11, AC068641.18 and
            AC025034.22.
            
            Summary: The protein encoded by this gene belongs to the family of
            P-type primary ion transport ATPases characterized by the formation
            of an aspartyl phosphate intermediate during the reaction cycle.
            These enzymes remove bivalent calcium ions from eukaryotic cells
            against very large concentration gradients and play a critical role
            in intracellular calcium homeostasis. The mammalian plasma membrane
            calcium ATPase isoforms are encoded by at least four separate genes
            and the diversity of these enzymes is further increased by
            alternative splicing of transcripts. The expression of different
            isoforms and splice variants is regulated in a developmental,
            tissue- and cell type-specific manner, suggesting that these pumps
            are functionally adapted to the physiological needs of particular
            cells and tissues. This gene encodes the plasma membrane calcium
            ATPase isoform 1. Alternatively spliced transcript variants
            encoding different isoforms have been identified. [provided by
            RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1721481.1,
                                           SRR14038196.2226939.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1033
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.33"
     Protein         1..1033
                     /product="plasma membrane calcium-transporting ATPase 1
                     isoform 15"
                     /EC_number="7.2.2.10"
                     /note="plasma membrane calcium pump; ATPase, Ca++
                     transporting, plasma membrane 1; plasma membrane
                     calcium-transporting ATPase 1"
                     /calculated_mol_wt=114405
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylglycine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P20020.4)"
     Site            8
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P20020.4)"
     Region          15..877
                     /region_name="ATPase-IIB_Ca"
                     /note="plasma-membrane calcium-translocating P-type
                     ATPase; TIGR01517"
                     /db_xref="CDD:273668"
     Site            17
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P20020.4)"
     Site            106..126
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P20020.4)"
     Region          916..962
                     /region_name="ATP_Ca_trans_C"
                     /note="Plasma membrane calcium transporter ATPase C
                     terminal; pfam12424"
                     /db_xref="CDD:432545"
     CDS             1..1033
                     /gene="ATP2B1"
                     /gene_synonym="MRD66; PMCA1; PMCA1kb"
                     /coded_by="NM_001413058.1:465..3566"
                     /note="isoform 15 is encoded by transcript variant 28"
                     /db_xref="GeneID:490"
                     /db_xref="HGNC:HGNC:814"
                     /db_xref="MIM:108731"
ORIGIN      
        1 mgdmannsva ysgvknslke anhdgdfgit laelralmel rstdalrkiq esygdvygic
       61 tklktspneg lsgnpadler reavfgknfi ppkkpktflq lvwealqdvt liileiaaiv
      121 slglsfyqpp egdnapkaqd gaamemqplk seeggdgdek dkkkanlpkk eksvlqgklt
      181 klavqigkag llmsaitvii lvlyfvidtf wvqkrpwlae ctpiyiqyfv kffiigvtvl
      241 vvavpeglpl avtislaysv kkmmkdnnlv rhldacetmg nataicsdkt gtltmnrmtv
      301 vqayinekhy kkvpepeaip pnilsylvtg isvncaytsk ilppekeggl prhvgnktec
      361 allgllldlk rdyqdvrnei peealykvyt fnsvrksmst vlknsdgsyr ifskgaseii
      421 lkkcfkilsa ngeakvfrpr drddivktvi epmaseglrt iclafrdfpa gepepewdne
      481 ndivtgltci avvgiedpvr pevpdaikkc qragitvrmv tgdnintara iatkcgilhp
      541 gedflclegk dfnrrirnek geieqeridk iwpklrvlar ssptdkhtlv kgiidstvsd
      601 qrqvvavtgd gtndgpalkk advgfamgia gtdvakeasd iiltddnfts ivkavmwgrn
      661 vydsiskflq fqltvnvvav ivaftgacit qdsplkavqm lwvnlimdtl aslalatepp
      721 teslllrkpy grnkplisrt mmknilghaf yqlvvvftll fagekffdid sgrnaplhap
      781 psehytivfn tfvlmqlfne inarkihger nvfegifnna ifctivlgtf vvqiiivqfg
      841 gkpfscsels ieqwlwsifl gmgtllwgql istiptsrlk flkeaghgtq keeipeeela
      901 edveeidhae relrrgqilw frglnriqtq irvvnafrss lyeglekpes rssihnfmth
      961 pefriedsep hipliddtda eddaptkrns spppspnknn navdsgihlt iemnksatss
     1021 spgsplhsle tsl
//
LOCUS       NP_001158250             154 aa            linear   PRI 26-MAR-2023
DEFINITION  ataxin-3 isoform o [Homo sapiens].
ACCESSION   NP_001158250
VERSION     NP_001158250.1
DBSOURCE    REFSEQ: accession NM_001164778.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 154)
  AUTHORS   Qiu H, Wu C, Liang J, Hu M, Chen Y, Huang Z, Yang Z, Zhao J and Chu
            J.
  TITLE     Structural alterations of spinocerebellar ataxias type 3: from
            pre-symptomatic to symptomatic stage
  JOURNAL   Eur Radiol 33 (4), 2881-2894 (2023)
   PUBMED   36370172
  REMARK    GeneRIF: Structural alterations of spinocerebellar ataxias type 3:
            from pre-symptomatic to symptomatic stage.
REFERENCE   2  (residues 1 to 154)
  AUTHORS   Dulski J, Pina AES, Al-Shaikh RH, Petrucelli L and Wszolek ZK.
  TITLE     Predominant motor neuron involvement as a manifestation of
            pathogenic (full range) ATXN3 mutations
  JOURNAL   Neurol Sci 44 (1), 389-392 (2023)
   PUBMED   36149513
  REMARK    GeneRIF: Predominant motor neuron involvement as a manifestation of
            pathogenic (full range) ATXN3 mutations.
REFERENCE   3  (residues 1 to 154)
  AUTHORS   Sowa AS, Haas E, Hubener-Schmid J and Lorentz A.
  TITLE     Ataxin-3, The Spinocerebellar Ataxia Type 3 Neurodegenerative
            Disorder Protein, Affects Mast Cell Functions
  JOURNAL   Front Immunol 13, 870966 (2022)
   PUBMED   35558088
  REMARK    GeneRIF: Ataxin-3, The Spinocerebellar Ataxia Type 3
            Neurodegenerative Disorder Protein, Affects Mast Cell Functions.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 154)
  AUTHORS   Yang HH, Chiang IT, Liu JW, Hsieh J, Lee JH, Lu HE, Tso HS, Deng
            YC, Kao JC, Wu JR, Harn HJ and Chiou TW.
  TITLE     Anti-Excitotoxic Effects of N-Butylidenephthalide Revealed by
            Chemically Insulted Purkinje Progenitor Cells Derived from SCA3
            iPSCs
  JOURNAL   Int J Mol Sci 23 (3), 1391 (2022)
   PUBMED   35163312
  REMARK    GeneRIF: Anti-Excitotoxic Effects of N-Butylidenephthalide Revealed
            by Chemically Insulted Purkinje Progenitor Cells Derived from SCA3
            iPSCs.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 154)
  AUTHORS   Bettencourt C, Santos C, Montiel R, Costa Mdo C, Cruz-Morales P,
            Santos LR, Simoes N, Kay T, Vasconcelos J, Maciel P and Lima M.
  TITLE     Increased transcript diversity: novel splicing variants of
            Machado-Joseph disease gene (ATXN3)
  JOURNAL   Neurogenetics 11 (2), 193-202 (2010)
   PUBMED   19714377
  REMARK    GeneRIF: Data demonstrate high variability in the ATXN3 gene
            transcripts, providing a basis for further investigation on the
            contribution of alternative splicing to the MJD pathogenic process,
            as well as to the larger group of the polyglutamine disorders.
REFERENCE   6  (residues 1 to 154)
  AUTHORS   Schols L, Vieira-Saecker AM, Schols S, Przuntek H, Epplen JT and
            Riess O.
  TITLE     Trinucleotide expansion within the MJD1 gene presents clinically as
            spinocerebellar ataxia and occurs most frequently in German SCA
            patients
  JOURNAL   Hum Mol Genet 4 (6), 1001-1005 (1995)
   PUBMED   7655453
REFERENCE   7  (residues 1 to 154)
  AUTHORS   Stevanin G, Cancel G, Durr A, Chneiweiss H, Dubourg O, Weissenbach
            J, Cann HM, Agid Y and Brice A.
  TITLE     The gene for spinal cerebellar ataxia 3 (SCA3) is located in a
            region of approximately 3 cM on chromosome 14q24.3-q32.2
  JOURNAL   Am J Hum Genet 56 (1), 193-201 (1995)
   PUBMED   7825578
REFERENCE   8  (residues 1 to 154)
  AUTHORS   Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S,
            Kawakami H, Nakamura S, Nishimura M, Akiguchi I et al.
  TITLE     CAG expansions in a novel gene for Machado-Joseph disease at
            chromosome 14q32.1
  JOURNAL   Nat Genet 8 (3), 221-228 (1994)
   PUBMED   7874163
REFERENCE   9  (residues 1 to 154)
  AUTHORS   Paulson,H. and Shakkottai,V.
  TITLE     Spinocerebellar Ataxia Type 3
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301375
REFERENCE   10 (residues 1 to 154)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121773.5 and AL049872.3.
            
            Summary: Machado-Joseph disease, also known as spinocerebellar
            ataxia-3, is an autosomal dominant neurologic disorder. The protein
            encoded by this gene contains (CAG)n repeats in the coding region,
            and the expansion of these repeats from the normal 12-44 to 52-86
            is one cause of Machado-Joseph disease. There is a negative
            correlation between the age of onset and CAG repeat numbers.
            Alternatively spliced transcript variants encoding different
            isoforms have been described for this gene. [provided by RefSeq,
            Jul 2016].
            
            Transcript Variant: This variant (o) is one of several transcript
            variants described in figure 2 of Bettencourt et al. (PMID:
            19714377). This variant encodes isoform o.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1965299, SAMEA1966682
                              [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..154
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12"
     Protein         1..154
                     /product="ataxin-3 isoform o"
                     /EC_number="3.4.19.12"
                     /note="josephin; spinocerebellar ataxia type 3 protein;
                     olivopontocerebellar ataxia 3; Machado-Joseph disease
                     protein 1"
                     /calculated_mol_wt=17180
     Region          9..>129
                     /region_name="Josephin"
                     /note="pfam02099"
                     /db_xref="CDD:426599"
     CDS             1..154
                     /gene="ATXN3"
                     /gene_synonym="AT3; ATX3; JOS; MJD; MJD1; SCA3"
                     /coded_by="NM_001164778.2:31..495"
                     /note="isoform o is encoded by transcript variant o"
                     /db_xref="GeneID:4287"
                     /db_xref="HGNC:HGNC:7106"
                     /db_xref="MIM:607047"
ORIGIN      
        1 mesifhekqe gslcaqhcln nllqgeyfsp velssiahql deeermrmae ggvtsedyrt
       61 flqqpsgnmd dsgffsiqvi snalkvwgle lilfnspeyq rlridpiner sficnykehw
      121 ftvrklgkqt aakaataaaa aaaggpirte ftsm
//
LOCUS       NP_001278963             693 aa            linear   PRI 05-APR-2023
DEFINITION  TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 isoform a
            [Homo sapiens].
ACCESSION   NP_001278963
VERSION     NP_001278963.1
DBSOURCE    REFSEQ: accession NM_001292034.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 693)
  AUTHORS   Zhang J, Cao L, Gao A, Ren R, Yu L, Li Q, Liu Y, Qi W, Hou Y, Sui
            W, Su G, Zhang Y, Zhang C and Zhang M.
  TITLE     E3 ligase RNF99 negatively regulates TLR-mediated inflammatory
            immune response via K48-linked ubiquitination of TAB2
  JOURNAL   Cell Death Differ 30 (4), 966-978 (2023)
   PUBMED   36681779
REFERENCE   2  (residues 1 to 693)
  AUTHORS   Koene S, Klerx-Melis F, Roest AAW, Kleijwegt MC, Bootsma M, Haak
            MC, van Haeringen MH, Ruivenkamp CAL, Nibbeling EAR and van
            Haeringen A.
  TITLE     Sacral abnormalities including caudal appendage, skeletal
            dysplasia, and prenatal cardiomyopathy associated with a pathogenic
            TAB2 variant in a 3-generation family
  JOURNAL   Am J Med Genet A 188 (12), 3510-3515 (2022)
   PUBMED   36000780
  REMARK    GeneRIF: Sacral abnormalities including caudal appendage, skeletal
            dysplasia, and prenatal cardiomyopathy associated with a pathogenic
            TAB2 variant in a 3-generation family.
REFERENCE   3  (residues 1 to 693)
  AUTHORS   Woods E, Marson I, Coci E, Spiller M, Kumar A, Brady A, Homfray T,
            Fisher R, Turnpenny P, Rankin J, Kanani F, Platzer K, Ververi A,
            Emmanouilidou E, Bourboun N, Giannakoulas G and Balasubramanian M.
  TITLE     Expanding the phenotype of TAB2 variants and literature review
  JOURNAL   Am J Med Genet A 188 (11), 3331-3342 (2022)
   PUBMED   35971781
  REMARK    GeneRIF: Expanding the phenotype of TAB2 variants and literature
            review.
REFERENCE   4  (residues 1 to 693)
  AUTHORS   Liu H, Zhang H, Fan H, Tang S and Weng J.
  TITLE     TAB2 Promotes the Biological Functions of Head and Neck Squamous
            Cell Carcinoma Cells via EMT and PI3K Pathway
  JOURNAL   Dis Markers 2022, 1217918 (2022)
   PUBMED   35978886
  REMARK    GeneRIF: TAB2 Promotes the Biological Functions of Head and Neck
            Squamous Cell Carcinoma Cells via EMT and PI3K Pathway.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 693)
  AUTHORS   Su M, Li ZL, Song YP, Wang YY, Zhou B and Li Q.
  TITLE     [Association Between TAB2 Gene Polymorphisms and Susceptibility to
            Cryptorchidism in Han Chinese Population in Southwest China]
  JOURNAL   Sichuan Da Xue Xue Bao Yi Xue Ban 53 (4), 642-648 (2022)
   PUBMED   35871735
  REMARK    GeneRIF: [Association Between TAB2 Gene Polymorphisms and
            Susceptibility to Cryptorchidism in Han Chinese Population in
            Southwest China].
REFERENCE   6  (residues 1 to 693)
  AUTHORS   Takaesu G, Kishida S, Hiyama A, Yamaguchi K, Shibuya H, Irie K,
            Ninomiya-Tsuji J and Matsumoto K.
  TITLE     TAB2, a novel adaptor protein, mediates activation of TAK1 MAPKKK
            by linking TAK1 to TRAF6 in the IL-1 signal transduction pathway
  JOURNAL   Mol Cell 5 (4), 649-658 (2000)
   PUBMED   10882101
REFERENCE   7  (residues 1 to 693)
  AUTHORS   Lee RJ, Albanese C, Stenger RJ, Watanabe G, Inghirami G, Haines GK
            3rd, Webster M, Muller WJ, Brugge JS, Davis RJ and Pestell RG.
  TITLE     pp60(v-src) induction of cyclin D1 requires collaborative
            interactions between the extracellular signal-regulated kinase,
            p38, and Jun kinase pathways. A role for cAMP response
            element-binding protein and activating transcription factor-2 in
            pp60(v-src) signaling in breast cancer cells
  JOURNAL   J Biol Chem 274 (11), 7341-7350 (1999)
   PUBMED   10066798
REFERENCE   8  (residues 1 to 693)
  AUTHORS   Arch RH, Gedrich RW and Thompson CB.
  TITLE     Tumor necrosis factor receptor-associated factors (TRAFs)--a family
            of adapter proteins that regulates life and death
  JOURNAL   Genes Dev 12 (18), 2821-2830 (1998)
   PUBMED   9744859
  REMARK    Review article
REFERENCE   9  (residues 1 to 693)
  AUTHORS   Deacon K and Blank JL.
  TITLE     Characterization of the mitogen-activated protein kinase kinase 4
            (MKK4)/c-Jun NH2-terminal kinase 1 and MKK3/p38 pathways regulated
            by MEK kinases 2 and 3. MEK kinase 3 activates MKK3 but does not
            cause activation of p38 kinase in vivo
  JOURNAL   J Biol Chem 272 (22), 14489-14496 (1997)
   PUBMED   9162092
REFERENCE   10 (residues 1 to 693)
  AUTHORS   Shibuya H, Yamaguchi K, Shirakabe K, Tonegawa A, Gotoh Y, Ueno N,
            Irie K, Nishida E and Matsumoto K.
  TITLE     TAB1: an activator of the TAK1 MAPKKK in TGF-beta signal
            transduction
  JOURNAL   Science 272 (5265), 1179-1182 (1996)
   PUBMED   8638164
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138727.10, AB018276.2 and
            BC035910.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is an activator of
            MAP3K7/TAK1, which is required for for the IL-1 induced activation
            of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase
            complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an
            adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1
            and MAP3K7, also participates in the signal transduction induced by
            TNFSF11/RANKl through the activation of the receptor activator of
            NF-kappaB (TNFRSF11A/RANK), which may regulate the development and
            function of osteoclasts. Studies of the related mouse protein
            indicate that it functions to protect against liver damage caused
            by chemical stressors. Mutations in this gene cause congenital
            heart defects, multiple types, 2 (CHTD2). Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, May
            2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1331247.1,
                                           SRR14038195.1545882.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153031, SAMEA2153980
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000637181.2/ ENSP00000490618.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..693
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1"
     Protein         1..693
                     /product="TGF-beta-activated kinase 1 and MAP3K7-binding
                     protein 2 isoform a"
                     /note="TAK1-binding protein 2; mitogen-activated protein
                     kinase kinase kinase 7-interacting protein 2"
                     /calculated_mol_wt=76363
     Region          9..50
                     /region_name="CUE_TAB2_TAB3"
                     /note="CUE domain found in the N-terminal of
                     TGF-beta-activated kinase 1 and MAP3K7-binding proteins
                     TAB2, TAB3 and similar proteins; cd14362"
                     /db_xref="CDD:270545"
     Region          91..130
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYJ8.1)"
     Site            173
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q9NYJ8.1)"
     Region          219..310
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYJ8.1)"
     Region          330..381
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYJ8.1)"
     Site            372
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9NYJ8.1)"
     Site            450
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NYJ8.1)"
     Site            482
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9NYJ8.1)"
     Site            524
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9NYJ8.1)"
     Region          <537..614
                     /region_name="Mplasa_alph_rch"
                     /note="helix-rich Mycoplasma protein; TIGR04523"
                     /db_xref="CDD:275316"
     Site            582
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NYJ8.1)"
     Region          642..663
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYJ8.1)"
     Region          667..690
                     /region_name="ZnF_RBZ"
                     /note="Zinc finger domain; smart00547"
                     /db_xref="CDD:197784"
     Region          668..687
                     /region_name="RanBP2-type Zn finger"
                     /note="RanBP2-type Zn finger [structural motif]"
                     /db_xref="CDD:275376"
     Site            673
                     /site_type="methylation"
                     /note="(Microbial infection) S-methylcysteine.
                     /evidence=ECO:0000269|PubMed:22158122,
                     ECO:0000269|PubMed:25412445; propagated from
                     UniProtKB/Swiss-Prot (Q9NYJ8.1)"
     Region          675..685
                     /region_name="Interaction with polyubiquitin.
                     /evidence=ECO:0000269|PubMed:19935683"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYJ8.1)"
     CDS             1..693
                     /gene="TAB2"
                     /gene_synonym="CHTD2; MAP3K7IP2; TAB-2"
                     /coded_by="NM_001292034.3:394..2475"
                     /note="isoform a is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS5214.1"
                     /db_xref="GeneID:23118"
                     /db_xref="HGNC:HGNC:17075"
                     /db_xref="MIM:605101"
ORIGIN      
        1 maqgshqidf qvlhdlrqkf pevpevvvsr cmlqnnnnld accavlsqes trylygegdl
       61 nfsddsgisg lrnhmtslnl dlqsqniyhh gregsrmngs rtlthsisdg qlqggqsnse
      121 lfqqepqtap aqvpqgfnvf gmssssgasn saphlgfhlg skgtsslsqq tprfnpimvt
      181 lapniqtgrn tptslhihgv pppvlnspqg nsiyirpyit tpggttrqtq qhsgwvsqfn
      241 pmnpqqvyqp sqpgpwttcp asnplshtss qqpnqqghqt shvympissp ttsqpptihs
      301 sgssqssahs qyniqnistg prknqieikl eppqrnnssk lrssgprtss tsssvnsqtl
      361 nrnqptvyia asppntdelm srsqpkvyis anaatgdeqv mrnqptlfis tnsgasaasr
      421 nmsgqvsmgp afihhhppks raignnsats prvvvtqpnt kytfkitvsp nkppavspgv
      481 vsptfeltnl lnhpdhyvet eniqhltdpt lahvdriset rklsmgsdda aytqallvhq
      541 karmerlqre leiqkkkldk lksevnemen nltrrrlkrs nsisqipsle emqqlrscnr
      601 qlqididclt keidlfqarg phfnpsaihn fydnigfvgp vppkpkdqrs iiktpktqdt
      661 eddegaqwnc tactflnhpa lirceqcemp rhf
//
LOCUS       NP_001305719             784 aa            linear   PRI 10-APR-2023
DEFINITION  toll-like receptor 2 precursor [Homo sapiens].
ACCESSION   NP_001305719
VERSION     NP_001305719.1
DBSOURCE    REFSEQ: accession NM_001318790.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 784)
  AUTHORS   Majewski M, Torres K, Mertowska P, Mertowski S, Korona-Glowniak I,
            Korulczyk J, Zgodzinski W and Grywalska E.
  TITLE     Could Toll-like Receptor 2 Serve as Biomarker to Detect Advanced
            Gastric Cancer?
  JOURNAL   Int J Mol Sci 24 (6), 5824 (2023)
   PUBMED   36982898
  REMARK    GeneRIF: Could Toll-like Receptor 2 Serve as Biomarker to Detect
            Advanced Gastric Cancer?
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 784)
  AUTHORS   Klatka M, Polak A, Mertowska P, Mertowski S, Lyczba J, Hymos A,
            Korona-Glowniak I and Grywalska E.
  TITLE     The Role of Toll-like Receptor 2 (TLR2) in the Development and
            Progression of Hashimoto's Disease (HD): A Case Study on Female
            Patients in Poland
  JOURNAL   Int J Mol Sci 24 (6), 5344 (2023)
   PUBMED   36982416
  REMARK    GeneRIF: The Role of Toll-like Receptor 2 (TLR2) in the Development
            and Progression of Hashimoto's Disease (HD): A Case Study on Female
            Patients in Poland.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 784)
  AUTHORS   Bai Q, Zhang X, Wang W, Zhang H and He S.
  TITLE     [Detection and analysis of TLR2 expression on blood monocytes and B
            cells in patients with allergic rhinitis and asthma]
  JOURNAL   Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 39 (3), 193-198 (2023)
   PUBMED   36946342
  REMARK    GeneRIF: [Detection and analysis of TLR2 expression on blood
            monocytes and B cells in patients with allergic rhinitis and
            asthma].
REFERENCE   4  (residues 1 to 784)
  AUTHORS   Jin MS, Kim SE, Heo JY, Lee ME, Kim HM, Paik SG, Lee H and Lee JO.
  TITLE     Crystal structure of the TLR1-TLR2 heterodimer induced by binding
            of a tri-acylated lipopeptide
  JOURNAL   Cell 130 (6), 1071-1082 (2007)
   PUBMED   17889651
  REMARK    GeneRIF: Propose that formation of the TLR1-TLR2 heterodimer brings
            the intracellular TIR domains close to each other to promote
            dimerization and initiate signaling.
REFERENCE   5  (residues 1 to 784)
  AUTHORS   Haehnel V, Schwarzfischer L, Fenton MJ and Rehli M.
  TITLE     Transcriptional regulation of the human toll-like receptor 2 gene
            in monocytes and macrophages
  JOURNAL   J Immunol 168 (11), 5629-5637 (2002)
   PUBMED   12023360
REFERENCE   6  (residues 1 to 784)
  AUTHORS   Aliprantis AO, Yang RB, Mark MR, Suggett S, Devaux B, Radolf JD,
            Klimpel GR, Godowski P and Zychlinsky A.
  TITLE     Cell activation and apoptosis by bacterial lipoproteins through
            toll-like receptor-2
  JOURNAL   Science 285 (5428), 736-739 (1999)
   PUBMED   10426996
REFERENCE   7  (residues 1 to 784)
  AUTHORS   Yoshimura A, Lien E, Ingalls RR, Tuomanen E, Dziarski R and
            Golenbock D.
  TITLE     Cutting edge: recognition of Gram-positive bacterial cell wall
            components by the innate immune system occurs via Toll-like
            receptor 2
  JOURNAL   J Immunol 163 (1), 1-5 (1999)
   PUBMED   10384090
REFERENCE   8  (residues 1 to 784)
  AUTHORS   Yang RB, Mark MR, Gray A, Huang A, Xie MH, Zhang M, Goddard A, Wood
            WI, Gurney AL and Godowski PJ.
  TITLE     Toll-like receptor-2 mediates lipopolysaccharide-induced cellular
            signalling
  JOURNAL   Nature 395 (6699), 284-288 (1998)
   PUBMED   9751057
REFERENCE   9  (residues 1 to 784)
  AUTHORS   Chaudhary PM, Ferguson C, Nguyen V, Nguyen O, Massa HF, Eby M,
            Jasmin A, Trask BJ, Hood L and Nelson PS.
  TITLE     Cloning and characterization of two Toll/Interleukin-1
            receptor-like genes TIL3 and TIL4: evidence for a multi-gene
            receptor family in humans
  JOURNAL   Blood 91 (11), 4020-4027 (1998)
   PUBMED   9596645
REFERENCE   10 (residues 1 to 784)
  AUTHORS   Rock FL, Hardiman G, Timans JC, Kastelein RA and Bazan JF.
  TITLE     A family of human receptors structurally related to Drosophila Toll
  JOURNAL   Proc Natl Acad Sci U S A 95 (2), 588-593 (1998)
   PUBMED   9435236
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF424051.1, DA870971.1,
            BC033756.1, AK125659.1, CB528396.1, AW614989.1 and BQ017238.1.
            
            Summary: The protein encoded by this gene is a member of the
            Toll-like receptor (TLR) family which plays a fundamental role in
            pathogen recognition and activation of innate immunity. TLRs are
            highly conserved from Drosophila to humans and share structural and
            functional similarities. This protein is a cell-surface protein
            that can form heterodimers with other TLR family members to
            recognize conserved molecules derived from microorganisms known as
            pathogen-associated molecular patterns (PAMPs). Activation of TLRs
            by PAMPs leads to an up-regulation of signaling pathways to
            modulate the host's inflammatory response. This gene is also
            thought to promote apoptosis in response to bacterial lipoproteins.
            This gene has been implicated in the pathogenesis of several
            autoimmune diseases. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. Variants 1-8 all encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803613.252164.1, SRR1660803.170437.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1966682, SAMEA2161836 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..784
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.3"
     Protein         1..784
                     /product="toll-like receptor 2 precursor"
                     /EC_number="3.2.2.6"
                     /note="toll/interleukin-1 receptor-like protein 4"
                     /calculated_mol_wt=87516
     sig_peptide     1..20
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O60603.1)"
                     /calculated_mol_wt=2340
     mat_peptide     21..784
                     /product="Toll-like receptor 2. /id=PRO_0000034710"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
                     /calculated_mol_wt=87516
     Region          54..77
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          54..77
                     /region_name="LRR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          57..>209
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          77..135
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          78..101
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          78..101
                     /region_name="LRR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          102..125
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          102..125
                     /region_name="LRR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Site            114
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15173186,
                     ECO:0000269|PubMed:17889651; propagated from
                     UniProtKB/Swiss-Prot (O60603.1)"
     Region          126..150
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          126..150
                     /region_name="LRR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          151..175
                     /region_name="LRR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          176..199
                     /region_name="LRR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          176..196
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Site            199
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15173186,
                     ECO:0000269|PubMed:17889651; propagated from
                     UniProtKB/Swiss-Prot (O60603.1)"
     Region          200..223
                     /region_name="LRR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          224..250
                     /region_name="LRR 8"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          251..278
                     /region_name="LRR 9"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          279..308
                     /region_name="LRR 10"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          309..337
                     /region_name="LRR 11"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          <324..>558
                     /region_name="PRK15370"
                     /note="type III secretion system effector E3 ubiquitin
                     transferase SlrP"
                     /db_xref="CDD:185268"
     Region          338..361
                     /region_name="LRR 12"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Site            349
                     /site_type="other"
                     /note="Interaction with bacterial lipopeptide; propagated
                     from UniProtKB/Swiss-Prot (O60603.1)"
     Region          362..388
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          362..388
                     /region_name="LRR 13"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          389..414
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          389..414
                     /region_name="LRR 14"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Site            414
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17889651; propagated from
                     UniProtKB/Swiss-Prot (O60603.1)"
     Region          415..437
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          415..437
                     /region_name="LRR 15"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          438..478
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          438..457
                     /region_name="LRR 16"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Site            442
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15173186,
                     ECO:0000269|PubMed:17889651; propagated from
                     UniProtKB/Swiss-Prot (O60603.1)"
     Region          458..478
                     /region_name="LRR 17"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          479..500
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          479..500
                     /region_name="LRR 18"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          501..524
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          501..524
                     /region_name="LRR 19"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          533..586
                     /region_name="LRRCT"
                     /note="Leucine rich repeat C-terminal domain; smart00082"
                     /db_xref="CDD:214507"
     Site            589..609
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     Region          640..784
                     /region_name="TIR"
                     /note="Toll - interleukin 1 - resistance; smart00255"
                     /db_xref="CDD:214587"
     Region          761..778
                     /region_name="ATG16L1-binding motif"
                     /note="propagated from UniProtKB/Swiss-Prot (O60603.1)"
     CDS             1..784
                     /gene="TLR2"
                     /gene_synonym="CD282; TIL4"
                     /coded_by="NM_001318790.2:221..2575"
                     /db_xref="CCDS:CCDS3784.1"
                     /db_xref="GeneID:7097"
                     /db_xref="HGNC:HGNC:11848"
                     /db_xref="MIM:603028"
ORIGIN      
        1 mphtlwmvwv lgviislske essnqaslsc drngickgss gslnsipsgl teavksldls
       61 nnrityisns dlqrcvnlqa lvltsngint ieedsfsslg slehldlsyn ylsnlssswf
      121 kplssltfln llgnpyktlg etslfshltk lqilrvgnmd tftkiqrkdf agltfleele
      181 idasdlqsye pkslksiqnv shlilhmkqh illleifvdv tssveclelr dtdldtfhfs
      241 elstgetnsl ikkftfrnvk itdeslfqvm kllnqisgll elefddctln gvgnfrasdn
      301 drvidpgkve tltirrlhip rfylfydlst lysltervkr itvenskvfl vpcllsqhlk
      361 sleyldlsen lmveeylkns acedawpslq tlilrqnhla slektgetll tlknltnidi
      421 sknsfhsmpe tcqwpekmky lnlsstrihs vtgcipktle ildvsnnnln lfslnlpqlk
      481 elyisrnklm tlpdasllpm llvlkisrna ittfskeqld sfhtlktlea ggnnficsce
      541 flsftqeqqa lakvlidwpa nylcdspshv rgqqvqdvrl svsechrtal vsgmccalfl
      601 lilltgvlch rfhglwymkm mwawlqakrk prkapsrnic ydafvsyser daywvenlmv
      661 qelenfnppf klclhkrdfi pgkwiidnii dsiekshktv fvlsenfvks ewckyeldfs
      721 hfrlfdennd aailillepi ekkaipqrfc klrkimntkt ylewpmdeaq regfwvnlra
      781 aiks
//
LOCUS       NP_001380993             653 aa            linear   PRI 14-APR-2023
DEFINITION  choline transporter-like protein 5 isoform E [Homo sapiens].
ACCESSION   NP_001380993
VERSION     NP_001380993.1
DBSOURCE    REFSEQ: accession NM_001394064.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 653)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 653)
  AUTHORS   Peng GZ, Ye QF, Wang R, Li MX and Yang ZX.
  TITLE     Knockdown by shRNA identifies SLC44A5 as a potential therapeutic
            target in hepatocellular carcinoma
  JOURNAL   Mol Med Rep 13 (6), 4845-4852 (2016)
   PUBMED   27082540
  REMARK    GeneRIF: the present study indicated the important role of SLC44A5
            as a tumor promoter in HCC through the inhibition of choline
            uptake, suggesting that SLC44A5 may be a potential target for HCC
            therapy.
REFERENCE   3  (residues 1 to 653)
  AUTHORS   Song P, Rekow SS, Singleton CA, Sekhon HS, Dissen GA, Zhou M,
            Campling B, Lindstrom J and Spindel ER.
  TITLE     Choline transporter-like protein 4 (CTL4) links to non-neuronal
            acetylcholine synthesis
  JOURNAL   J Neurochem 126 (4), 451-461 (2013)
   PUBMED   23651124
REFERENCE   4  (residues 1 to 653)
  AUTHORS   O'Donnell PH, Stark AL, Gamazon ER, Wheeler HE, McIlwee BE, Gorsic
            L, Im HK, Huang RS, Cox NJ and Dolan ME.
  TITLE     Identification of novel germline polymorphisms governing
            capecitabine sensitivity
  JOURNAL   Cancer 118 (16), 4063-4073 (2012)
   PUBMED   22864933
REFERENCE   5  (residues 1 to 653)
  AUTHORS   Furney SJ, Simmons A, Breen G, Pedroso I, Lunnon K, Proitsi P,
            Hodges A, Powell J, Wahlund LO, Kloszewska I, Mecocci P, Soininen
            H, Tsolaki M, Vellas B, Spenger C, Lathrop M, Shen L, Kim S, Saykin
            AJ, Weiner MW and Lovestone S.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative; AddNeuroMed Consortium
  TITLE     Genome-wide association with MRI atrophy measures as a quantitative
            trait locus for Alzheimer's disease
  JOURNAL   Mol Psychiatry 16 (11), 1130-1138 (2011)
   PUBMED   21116278
REFERENCE   6  (residues 1 to 653)
  AUTHORS   Traiffort E, Ruat M, O'Regan S and Meunier FM.
  TITLE     Molecular characterization of the family of choline
            transporter-like proteins and their splice variants
  JOURNAL   J Neurochem 92 (5), 1116-1125 (2005)
   PUBMED   15715662
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL096829.17, AC118990.2, AC107627.3 and AC118550.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.3794082.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..653
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     Protein         1..653
                     /product="choline transporter-like protein 5 isoform E"
                     /note="choline transporter-like protein 5"
                     /calculated_mol_wt=73934
     Region          324..649
                     /region_name="Choline_transpo"
                     /note="Plasma-membrane choline transporter; pfam04515"
                     /db_xref="CDD:427989"
     CDS             1..653
                     /gene="SLC44A5"
                     /gene_synonym="CTL5"
                     /coded_by="NM_001394064.1:278..2239"
                     /note="isoform E is encoded by transcript variant 6"
                     /db_xref="GeneID:204962"
                     /db_xref="HGNC:HGNC:28524"
                     /db_xref="MIM:620329"
ORIGIN      
        1 makkrkppsi kgdprtydpd fkgpvanrsc tdvlccmifl lciigyivlg lvawvhgdpr
       61 raayptdsqg hfcgqkgtpn enktilfyfn llrctspsvl lnlqcpttqi cvskcpekfl
      121 tyvemqllyt kdksywedyr qfckttakpv ksltqllldd dcptaifpsk pflqrcfpdf
      181 stkngtltig skmmfqdgng gtrsvvelgi aanginklld akslglkvfe dyartwywil
      241 igltiamvls wiflillrfi agclfwvfmi gvigiigygi whcyqqytnl qerpssvlti
      301 ydigiqtnis myfelqqtwf tfmiilciie vivilmlifl rnrirvaiil lkegskaigy
      361 vpstlvypal tfillsicic ywvvtavfla tsgvpvykvi apgghcihen qtcdpeifnt
      421 teiakacpga lcnfafyggk slyhqyiptf hvynlfvflw linfvialgq calagafaty
      481 ywamkkpddi pryplftafg rairyhtgsl afgsliiali qmfkivleyl dhrlkrtqnt
      541 lskflqcclr ccfwclenai kflnrnayim iaiygrnfcr sakdafnllm rnvlkvavtd
      601 evtyfvlflg kllvagsigv laflfftqrl pviaqgpasl nyywvpllvr agv
//
LOCUS       NP_570844                924 aa            linear   PRI 17-APR-2023
DEFINITION  dynamin-like 120 kDa protein, mitochondrial isoform 2 [Homo
            sapiens].
ACCESSION   NP_570844
VERSION     NP_570844.1
DBSOURCE    REFSEQ: accession NM_130831.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 924)
  AUTHORS   Cartes-Saavedra B, Lagos D, Macuada J, Arancibia D, Burte F,
            Sjoberg-Herrera MK, Andres ME, Horvath R, Yu-Wai-Man P, Hajnoczky G
            and Eisner V.
  TITLE     OPA1 disease-causing mutants have domain-specific effects on
            mitochondrial ultrastructure and fusion
  JOURNAL   Proc Natl Acad Sci U S A 120 (12), e2207471120 (2023)
   PUBMED   36927155
  REMARK    GeneRIF: OPA1 disease-causing mutants have domain-specific effects
            on mitochondrial ultrastructure and fusion.
REFERENCE   2  (residues 1 to 924)
  AUTHORS   Choi SI, Lee GH, Woo JH, Jun I and Kim EK.
  TITLE     Reduced OPA1, Mitochondrial Fragmentation and Increased
            Susceptibility to Apoptosis in Granular Corneal Dystrophy Type 2
            Corneal Fibroblasts
  JOURNAL   Genes (Basel) 14 (3), 566 (2023)
   PUBMED   36980838
  REMARK    GeneRIF: Reduced OPA1, Mitochondrial Fragmentation and Increased
            Susceptibility to Apoptosis in Granular Corneal Dystrophy Type 2
            Corneal Fibroblasts.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 924)
  AUTHORS   Wang R, Xu H, Tan B, Yi Q, Sun Y, Xiang H, Chen T, Liu H, Xie Q,
            Wang L, Tian J and Zhu J.
  TITLE     SIRT3 promotes metabolic maturation of human iPSC-derived
            cardiomyocytes via OPA1-controlled mitochondrial dynamics
  JOURNAL   Free Radic Biol Med 195, 270-282 (2023)
   PUBMED   36596388
  REMARK    GeneRIF: SIRT3 promotes metabolic maturation of human iPSC-derived
            cardiomyocytes via OPA1-controlled mitochondrial dynamics.
REFERENCE   4  (residues 1 to 924)
  AUTHORS   Phadwal K, Tang QY, Luijten I, Zhao JF, Corcoran B, Semple RK,
            Ganley IG and MacRae VE.
  TITLE     p53 Regulates Mitochondrial Dynamics in Vascular Smooth Muscle Cell
            Calcification
  JOURNAL   Int J Mol Sci 24 (2), 1643 (2023)
   PUBMED   36675156
  REMARK    GeneRIF: p53 Regulates Mitochondrial Dynamics in Vascular Smooth
            Muscle Cell Calcification.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 924)
  AUTHORS   Delettre C, Griffoin JM, Kaplan J, Dollfus H, Lorenz B, Faivre L,
            Lenaers G, Belenguer P and Hamel CP.
  TITLE     Mutation spectrum and splicing variants in the OPA1 gene
  JOURNAL   Hum Genet 109 (6), 584-591 (2001)
   PUBMED   11810270
REFERENCE   6  (residues 1 to 924)
  AUTHORS   Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A,
            Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS
            and Wissinger B.
  TITLE     OPA1, encoding a dynamin-related GTPase, is mutated in autosomal
            dominant optic atrophy linked to chromosome 3q28
  JOURNAL   Nat Genet 26 (2), 211-215 (2000)
   PUBMED   11017080
REFERENCE   7  (residues 1 to 924)
  AUTHORS   Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer
            P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E,
            Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J
            and Hamel CP.
  TITLE     Nuclear gene OPA1, encoding a mitochondrial dynamin-related
            protein, is mutated in dominant optic atrophy
  JOURNAL   Nat Genet 26 (2), 207-210 (2000)
   PUBMED   11017079
REFERENCE   8  (residues 1 to 924)
  AUTHORS   Johnston RL, Seller MJ, Behnam JT, Burdon MA and Spalton DJ.
  TITLE     Dominant optic atrophy. Refining the clinical diagnostic criteria
            in light of genetic linkage studies
  JOURNAL   Ophthalmology 106 (1), 123-128 (1999)
   PUBMED   9917792
REFERENCE   9  (residues 1 to 924)
  AUTHORS   Votruba M, Moore AT and Bhattacharya SS.
  TITLE     Demonstration of a founder effect and fine mapping of dominant
            optic atrophy locus on 3q28-qter by linkage disequilibrium method:
            a study of 38 British Isles pedigrees
  JOURNAL   Hum Genet 102 (1), 79-86 (1998)
   PUBMED   9490303
REFERENCE   10 (residues 1 to 924)
  AUTHORS   Delettre-Cribaillet,C., Hamel,C.P. and Lenaers,G.
  TITLE     Optic Atrophy Type 1
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301426
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC048351.18, AC106710.8 and
            BQ774938.1.
            
            Summary: The protein encoded by this gene is a nuclear-encoded
            mitochondrial protein with similarity to dynamin-related GTPases.
            The encoded protein localizes to the inner mitochondrial membrane
            and helps regulate mitochondrial stability and energy output. This
            protein also sequesters cytochrome c. Mutations in this gene have
            been associated with optic atrophy type 1, which is a dominantly
            inherited optic neuropathy resulting in progressive loss of visual
            acuity, leading in many cases to legal blindness. [provided by
            RefSeq, Aug 2017].
            
            Transcript Variant: This variant (2) is missing exon 4, compared to
            transcript variant 1. It however, maintains the same reading frame
            and encodes an isoform (2) of 924 aa. This variant is based on an
            alternate splice pattern characterized by Delettre et al (2001,
            PMID: 11810270), but the complete 5' to 3' exon combination is
            inferred and not supported at the time of review by a single long
            cDNA.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.158551.1,
                                           SRR1660809.6437.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..924
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q29"
     Protein         1..924
                     /product="dynamin-like 120 kDa protein, mitochondrial
                     isoform 2"
                     /EC_number="3.6.5.5"
                     /note="mitochondrial dynamin-like GTPase; dynamin-like 120
                     kDa protein, mitochondrial; optic atrophy protein 1;
                     dynamin-like guanosine triphosphatase; optic atrophy 1
                     (autosomal dominant)"
                     /calculated_mol_wt=107437
     Region          251..525
                     /region_name="DLP_1"
                     /note="Dynamin_like protein family includes dynamins and
                     Mx proteins; cd08771"
                     /db_xref="CDD:206738"
     Site            259..266
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206738"
     Site            order(260,262..267,280..281,287,362,432,434..435,466..470)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206738"
     Site            order(261..262,366,379,404,406,408..411,413..414,435,
                     437..440,469..470)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:206738"
     Site            287
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206738"
     Site            291..293
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206738"
     Site            362..365
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206738"
     Site            order(364..365,395..396)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206738"
     Site            431..434
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206738"
     Region          444..924
                     /region_name="OPA1_C"
                     /note="Dynamin-like GTPase OPA1 C-terminal; pfam19434"
                     /db_xref="CDD:437266"
     Site            466..468
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206738"
     CDS             1..924
                     /gene="OPA1"
                     /gene_synonym="BERHS; largeG; MGM1; MTDPS14; NPG; NTG"
                     /coded_by="NM_130831.3:171..2945"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS87183.1"
                     /db_xref="GeneID:4976"
                     /db_xref="HGNC:HGNC:8140"
                     /db_xref="MIM:605290"
ORIGIN      
        1 mwrlrraava cevcqslvkh ssgikgslpl qklhlvsrsi yhshhptlkl qrpqlrtsfq
       61 qfssltnlpl rklkfspiky gyqprrnfwp arlatrllkl rylilgsavg ggytakktfd
      121 qwkdmipdls eykwivpdiv weideyidfg speetafrat drgsesdkhf rkvsdkekid
      181 qlqeellhtq lkyqrilerl ekenkelrkl vlqkddkgih hrklkkslid mysevldvls
      241 dydasyntqd hlprvvvvgd qsagktsvle miaqarifpr gsgemmtrsp vkvtlsegph
      301 hvalfkdssr efdltkeedl aalrheielr mrknvkegct vspetislnv kgpglqrmvl
      361 vdlpgvintv tsgmapdtke tifsiskaym qnpnaiilci qdgsvdaers ivtdlvsqmd
      421 phgrrtifvl tkvdlaeknv aspsriqqii egklfpmkal gyfavvtgkg nssesieair
      481 eyeeeffqns kllktsmlka hqvttrnlsl avsdcfwkmv resveqqads fkatrfnlet
      541 ewknnyprlr eldrnelfek akneildevi slsqvtpkhw eeilqqslwe rvsthvieni
      601 ylpaaqtmns gtfnttvdik lkqwtdkqlp nkavevawet lqeefsrfmt epkgkehddi
      661 fdklkeavke esikrhkwnd faedslrviq hnaledrsis dkqqwdaaiy fmeealqarl
      721 kdtenaienm vgpdwkkrwl ywknrtqeqc vhnetknele kmlkcneehp aylasdeitt
      781 vrknlesrgv evdpslikdt whqvyrrhfl ktalnhcnlc rrgfyyyqrh fvdselecnd
      841 vvlfwriqrm laitantlrq qltntevrrl eknvkevled faedgekkik lltgkrvqla
      901 edlkkvreiq ekldafieal hqek
//
LOCUS       NP_001382778            1133 aa            linear   PRI 20-AUG-2022
DEFINITION  nuclear pore complex-interacting protein family member B5 [Homo
            sapiens].
ACCESSION   NP_001382778
VERSION     NP_001382778.1
DBSOURCE    REFSEQ: accession NM_001395849.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1133)
  AUTHORS   Eichler EE, Johnson ME, Alkan C, Tuzun E, Sahinalp C, Misceo D,
            Archidiacono N and Rocchi M.
  TITLE     Divergent origins and concerted expansion of two segmental
            duplications on chromosome 16
  JOURNAL   J Hered 92 (6), 462-468 (2001)
   PUBMED   11948212
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC106788.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296338.1, SRR18074968.517312.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000424340.7/ ENSP00000440703.1
            RefSeq Select criteria :: based on manual assertion, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1133
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.2"
     Protein         1..1133
                     /product="nuclear pore complex-interacting protein family
                     member B5"
                     /note="nuclear pore complex interacting protein related"
                     /calculated_mol_wt=126329
     Region          <2..41
                     /region_name="AFD_class_I"
                     /note="Adenylate forming domain, Class I superfamily;
                     cl17068"
                     /db_xref="CDD:450147"
     Region          41..303
                     /region_name="NPIP"
                     /note="Nuclear pore complex interacting protein (NPIP);
                     pfam06409"
                     /db_xref="CDD:428922"
     Site            60..84
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MRT5.3)"
     Region          241..262
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MRT5.3)"
     Region          290..575
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MRT5.3)"
     Region          868..1133
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MRT5.3)"
     Region          871..>1131
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     CDS             1..1133
                     /gene="NPIPB5"
                     /coded_by="NM_001395849.1:2912..6313"
                     /db_xref="CCDS:CCDS45443.1"
                     /db_xref="GeneID:100132247"
                     /db_xref="HGNC:HGNC:37233"
ORIGIN      
        1 mvklsivltp qflshdqgql tkelqqhvks vtcpceylrk vintladhhh rgtdfggspw
       61 lhviiafpts ykvvitlwiv ylwvsllkti fwsrnghdgs tdvqqrawrs nrrrqeglrs
      121 icmhtkkrvs sfrgnkiglk dvitlrrhve tkvrakirkr kvttkinhhd kingkrktar
      181 kqkmfqraqe lrrraedyhk ckippsarka lcnwvrmaaa ehrhssglpy wpyltaetlk
      241 nrmghqpppp tqqhsitdns lslktppecl ltplppsadd nlktppecvl tplppsaddn
      301 lktppecvlt plppsaddnl ktppeclltp lppsaddnlk tppeclltpl ppsalpsapp
      361 saddnlktra ecllhplpps addnlktpse rqltplppsa ppsaddnikt paerlrgplp
      421 psaddnlktp serqltplpp sappsaddni ktpaerlrgp lppsaddnlk tpserqltpl
      481 ppsappsadd niktpaerlr gplppsaddn lktpserqlt alppsaddni ktpaerlrgp
      541 lppsaddnlk tpserqltpl ppsappsadd niktpafhpq rmisrhlpsv sslpfhpqlh
      601 pqqmiisryl lsvcgfrfhh qpmiisrhlp svsslpfhpq lhpqqmiisr hlpsvcggrf
      661 hpermiisrh lpsvsslpfh pqlhpqqmii srhlpsvcgg rfhpqqmiis rhlpsvsslp
      721 fhpqlhpqqm iisrhlpsvc ggrfhpqrmi isrhlpsvss lpfhpqlhpq qmiisrhlps
      781 vcggrfhpqq miisrhlpsv sslpfhpqlh pqqmiisrhl psvcggrfhp qrmiisrhlp
      841 svsslpfhpq lhpqqmiisr hlpsvcgerl rgplppsadd nlktpserql tplppsapps
      901 addniktpae rlrgplppsa ddnlktpser qltplppsap psaddniktp aerlrgplpp
      961 saddnlktps erqltplpps appsaddnik tpaerlrgpl ppsaddnlkt pplatqeaea
     1021 ekprkpkrqr aaemepppep krrrvgdvep srkpkrrraa dvepsspepk rrrvgdveps
     1081 rkpkrrraad vepsspepkr rrvgdvepsr kpkrrraadv epslpepkrr rls
//
LOCUS       NP_001291202              82 aa            linear   PRI 17-DEC-2022
DEFINITION  armadillo repeat-containing protein 7 isoform 4 [Homo sapiens].
ACCESSION   NP_001291202
VERSION     NP_001291202.1
DBSOURCE    REFSEQ: accession NM_001304273.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 82)
  AUTHORS   Bai R, Wan R, Wang L, Xu K, Zhang Q, Lei J and Shi Y.
  TITLE     Structure of the activated human minor spliceosome
  JOURNAL   Science 371 (6535) (2021)
   PUBMED   33509932
REFERENCE   2  (residues 1 to 82)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 82)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 82)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (residues 1 to 82)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (residues 1 to 82)
  AUTHORS   Yachie N, Petsalaki E, Mellor JC, Weile J, Jacob Y, Verby M, Ozturk
            SB, Li S, Cote AG, Mosca R, Knapp JJ, Ko M, Yu A, Gebbia M, Sahni
            N, Yi S, Tyagi T, Sheykhkarimli D, Roth JF, Wong C, Musa L, Snider
            J, Liu YC, Yu H, Braun P, Stagljar I, Hao T, Calderwood MA,
            Pelletier L, Aloy P, Hill DE, Vidal M and Roth FP.
  TITLE     Pooled-matrix protein interaction screens using Barcode Fusion
            Genetics
  JOURNAL   Mol Syst Biol 12 (4), 863 (2016)
   PUBMED   27107012
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK300997.1, BI826938.1, CR748475.1 and BF512472.1.
            
            Transcript Variant: This variant (4) uses an alternate 3' terminal
            exon, resulting in a distinct 3' coding region and 3' UTR compared
            to variant 1. The encoded isoform (4) is shorter, and has a
            distinct C-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.33678.1,
                                           SRR1163658.358961.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..82
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     Protein         1..82
                     /product="armadillo repeat-containing protein 7 isoform 4"
                     /note="armadillo repeat-containing protein 7"
                     /calculated_mol_wt=9116
     CDS             1..82
                     /gene="ARMC7"
                     /coded_by="NM_001304273.2:321..569"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS77108.1"
                     /db_xref="GeneID:79637"
                     /db_xref="HGNC:HGNC:26168"
ORIGIN      
        1 maqkpkvdph vgrlgylqal vtefqetqsq dakeqvlanl anfaydpsny eylrqlqvld
       61 lfldslseen etlvefaiaa av
//
LOCUS       NP_060611                201 aa            linear   PRI 18-DEC-2022
DEFINITION  28S ribosomal protein S10, mitochondrial [Homo sapiens].
ACCESSION   NP_060611
VERSION     NP_060611.2
DBSOURCE    REFSEQ: accession NM_018141.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 201)
  AUTHORS   Greber BJ and Ban N.
  TITLE     Structure and Function of the Mitochondrial Ribosome
  JOURNAL   Annu Rev Biochem 85, 103-132 (2016)
   PUBMED   27023846
  REMARK    Review article
REFERENCE   2  (residues 1 to 201)
  AUTHORS   Amunts A, Brown A, Toots J, Scheres SHW and Ramakrishnan V.
  TITLE     Ribosome. The structure of the human mitochondrial ribosome
  JOURNAL   Science 348 (6230), 95-98 (2015)
   PUBMED   25838379
REFERENCE   3  (residues 1 to 201)
  AUTHORS   Orvedahl A, Sumpter R Jr, Xiao G, Ng A, Zou Z, Tang Y, Narimatsu M,
            Gilpin C, Sun Q, Roth M, Forst CV, Wrana JL, Zhang YE, Luby-Phelps
            K, Xavier RJ, Xie Y and Levine B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   4  (residues 1 to 201)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 201)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD,
            Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker
            DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP,
            Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY,
            Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman
            LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M,
            Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD,
            Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ,
            Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S,
            Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL,
            Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL,
            Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson
            CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK,
            Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR,
            Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M,
            Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A,
            Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K,
            Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore
            B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM,
            Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith
            M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G,
            Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A,
            Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL,
            Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt
            JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard
            T, Sulston JE, Dunham I, Rogers J and Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   6  (residues 1 to 201)
  AUTHORS   Zhang Z and Gerstein M.
  TITLE     Identification and characterization of over 100 mitochondrial
            ribosomal protein pseudogenes in the human genome
  JOURNAL   Genomics 81 (5), 468-480 (2003)
   PUBMED   12706105
REFERENCE   7  (residues 1 to 201)
  AUTHORS   Jia L, Young MF, Powell J, Yang L, Ho NC, Hotchkiss R, Robey PG and
            Francomano CA.
  TITLE     Gene expression profile of human bone marrow stromal cells:
            high-throughput expressed sequence tag sequencing analysis
  JOURNAL   Genomics 79 (1), 7-17 (2002)
   PUBMED   11827452
REFERENCE   8  (residues 1 to 201)
  AUTHORS   Cavdar Koc E, Burkhart W, Blackburn K, Moseley A and Spremulli LL.
  TITLE     The small subunit of the mammalian mitochondrial ribosome.
            Identification of the full complement of ribosomal proteins present
  JOURNAL   J Biol Chem 276 (22), 19363-19374 (2001)
   PUBMED   11279123
REFERENCE   9  (residues 1 to 201)
  AUTHORS   Koc EC, Burkhart W, Blackburn K, Moseley A, Koc H and Spremulli LL.
  TITLE     A proteomics approach to the identification of mammalian
            mitochondrial small subunit ribosomal proteins
  JOURNAL   J Biol Chem 275 (42), 32585-32591 (2000)
   PUBMED   10938081
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG776014.1, BC012560.1,
            AW974308.1, AI754661.1, AI683142.1, AW300686.1 and AF113220.1.
            On Oct 31, 2001 this sequence version replaced NP_060611.1.
            
            Summary: Mammalian mitochondrial ribosomal proteins are encoded by
            nuclear genes and help in protein synthesis within the
            mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a
            small 28S subunit and a large 39S subunit. They have an estimated
            75% protein to rRNA composition compared to prokaryotic ribosomes,
            where this ratio is reversed. Another difference between mammalian
            mitoribosomes and prokaryotic ribosomes is that the latter contain
            a 5S rRNA. Among different species, the proteins comprising the
            mitoribosome differ greatly in sequence, and sometimes in
            biochemical properties, which prevents easy recognition by sequence
            homology. This gene encodes a 28S subunit protein that belongs to
            the ribosomal protein S10P family. Pseudogenes corresponding to
            this gene are found on chromosomes 1q, 3p, and 9p. [provided by
            RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC012560.1, AK098446.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000053468.4/
                                                  ENSP00000053468.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..201
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     Protein         1..201
                     /product="28S ribosomal protein S10, mitochondrial"
                     /EC_number="3.6.5.3"
                     /note="mitochondrial 28S ribosomal protein S10; S10mt;
                     mitochondrial small ribosomal subunit protein uS10m"
                     /calculated_mol_wt=22868
     CDS             1..201
                     /gene="MRPS10"
                     /gene_synonym="MRP-S10; PNAS-122"
                     /coded_by="NM_018141.4:13..618"
                     /db_xref="CCDS:CCDS4866.1"
                     /db_xref="GeneID:55173"
                     /db_xref="HGNC:HGNC:14502"
                     /db_xref="MIM:611976"
ORIGIN      
        1 maartafgav crrlwqglgn fsvntskgnt akngglllst nmkwvqfsnl hvdvpkdltk
       61 pvvtisdepd ilykrlsvlv kghdkavlds yeyfavlaak elgisikvhe pprkierftl
      121 lqsvhiykkh rvqyemrtly rclelehltg stadvyleyi qrnlpegvam evtktqleql
      181 pehikepiwe tlseekeesk s
//
LOCUS       NP_001306870             126 aa            linear   PRI 23-DEC-2022
DEFINITION  transmembrane protein 88 isoform 2 [Homo sapiens].
ACCESSION   NP_001306870 XP_005256914
VERSION     NP_001306870.1
DBSOURCE    REFSEQ: accession NM_001319941.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 126)
  AUTHORS   Sun Z, Ning Q, Li H, Hu T, Tang L, Wen Q and Shen L.
  TITLE     Transmembrane protein 88 inhibits transforming growth
            factor-beta1-induced-extracellular matrix accumulation and
            epithelial-mesenchymal transition program in human pleural
            mesothelial cells through modulating TGF-beta1/Smad pathway
  JOURNAL   J Recept Signal Transduct Res 42 (1), 60-66 (2022)
   PUBMED   33167758
  REMARK    GeneRIF: Transmembrane protein 88 inhibits transforming growth
            factor-beta1-induced-extracellular matrix accumulation and
            epithelial-mesenchymal transition program in human pleural
            mesothelial cells through modulating TGF-beta1/Smad pathway.
REFERENCE   2  (residues 1 to 126)
  AUTHORS   Zhao X, Li G, Chong T, Xue L, Luo Q, Tang X, Zhai X, Chen J and
            Zhang X.
  TITLE     TMEM88 exhibits an antiproliferative and anti-invasive effect in
            bladder cancer by downregulating Wnt/beta-catenin signaling
  JOURNAL   J Biochem Mol Toxicol 35 (8), e22835 (2021)
   PUBMED   34057764
  REMARK    GeneRIF: TMEM88 exhibits an antiproliferative and anti-invasive
            effect in bladder cancer by downregulating Wnt/beta-catenin
            signaling.
REFERENCE   3  (residues 1 to 126)
  AUTHORS   Geng Q, Chen X and Chen N.
  TITLE     Transmembrane protein 88 exerts a tumor-inhibitory role in thyroid
            cancer through restriction of Wnt/beta-catenin signaling
  JOURNAL   Exp Cell Res 395 (2), 112193 (2020)
   PUBMED   32710906
  REMARK    GeneRIF: Transmembrane protein 88 exerts a tumor-inhibitory role in
            thyroid cancer through restriction of Wnt/beta-catenin signaling.
REFERENCE   4  (residues 1 to 126)
  AUTHORS   Xu T, Pan L, Li L, Hu S, Zhou H, Yang C, Yang J, Li H, Liu Y, Meng
            X and Li J.
  TITLE     MicroRNA-708 modulates Hepatic Stellate Cells activation and
            enhances extracellular matrix accumulation via direct targeting
            TMEM88
  JOURNAL   J Cell Mol Med 24 (13), 7127-7140 (2020)
   PUBMED   32463570
  REMARK    GeneRIF: MicroRNA-708 modulates Hepatic Stellate Cells activation
            and enhances extracellular matrix accumulation via direct targeting
            TMEM88.
REFERENCE   5  (residues 1 to 126)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 126)
  AUTHORS   Yu X, Zhang X, Zhang Y, Jiang G, Mao X and Jin F.
  TITLE     Cytosolic TMEM88 promotes triple-negative breast cancer by
            interacting with Dvl
  JOURNAL   Oncotarget 6 (28), 25034-25045 (2015)
   PUBMED   26325443
  REMARK    GeneRIF: TMEM88 stimulated triple negative breast cancer cell
            invasion by interacting with DVL1.
REFERENCE   7  (residues 1 to 126)
  AUTHORS   He M, Xu M, Zhang B, Liang J, Chen P, Lee JY, Johnson TA, Li H,
            Yang X, Dai J, Liang L, Gui L, Qi Q, Huang J, Li Y, Adair LS, Aung
            T, Cai Q, Cheng CY, Cho MC, Cho YS, Chu M, Cui B, Gao YT, Go MJ, Gu
            D, Gu W, Guo H, Hao Y, Hong J, Hu Z, Hu Y, Huang J, Hwang JY, Ikram
            MK, Jin G, Kang DH, Khor CC, Kim BJ, Kim HT, Kubo M, Lee J, Lee J,
            Lee NR, Li R, Li J, Liu J, Longe J, Lu W, Lu X, Miao X, Okada Y,
            Ong RT, Qiu G, Seielstad M, Sim X, Song H, Takeuchi F, Tanaka T,
            Taylor PR, Wang L, Wang W, Wang Y, Wu C, Wu Y, Xiang YB, Yamamoto
            K, Yang H, Liao M, Yokota M, Young T, Zhang X, Kato N, Wang QK,
            Zheng W, Hu FB, Lin D, Shen H, Teo YY, Mo Z, Wong TY, Lin X, Mohlke
            KL, Ning G, Tsunoda T, Han BG, Shu XO, Tai ES, Wu T and Qi L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   8  (residues 1 to 126)
  AUTHORS   Palpant NJ, Pabon L, Rabinowitz JS, Hadland BK, Stoick-Cooper CL,
            Paige SL, Bernstein ID, Moon RT and Murry CE.
  TITLE     Transmembrane protein 88: a Wnt regulatory protein that specifies
            cardiomyocyte development
  JOURNAL   Development 140 (18), 3799-3808 (2013)
   PUBMED   23924634
  REMARK    GeneRIF: TMEM88 is crucial for heart development and acts
            downstream of GATA factors in the pre-cardiac mesoderm to specify
            lineage commitment of cardiomyocyte.
REFERENCE   9  (residues 1 to 126)
  AUTHORS   Jang JS, Jeon HS, Sun Z, Aubry MC, Tang H, Park CH, Rakhshan F,
            Schultz DA, Kolbert CP, Lupu R, Park JY, Harris CC, Yang P and Jen
            J.
  TITLE     Increased miR-708 expression in NSCLC and its association with poor
            survival in lung adenocarcinoma from never smokers
  JOURNAL   Clin Cancer Res 18 (13), 3658-3667 (2012)
   PUBMED   22573352
  REMARK    GeneRIF: miRNA-708 acts as an oncogene contributing to tumor growth
            and disease progression by directly downregulating TMEM88
REFERENCE   10 (residues 1 to 126)
  AUTHORS   Lee HJ, Finkelstein D, Li X, Wu D, Shi DL and Zheng JJ.
  TITLE     Identification of transmembrane protein 88 (TMEM88) as a
            dishevelled-binding protein
  JOURNAL   J Biol Chem 285 (53), 41549-41556 (2010)
   PUBMED   21044957
  REMARK    GeneRIF: TMEM88 associates with Dvl proteins and regulates Wnt
            signaling in a context-dependent manner
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104581.22.
            On Feb 6, 2016 this sequence version replaced XP_005256914.1.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' region, compared to variant 1. This results in a shorter
            protein (isoform 2), compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BJ994901.1, AI204649.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..126
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     Protein         1..126
                     /product="transmembrane protein 88 isoform 2"
                     /calculated_mol_wt=13203
     CDS             1..126
                     /gene="TMEM88"
                     /coded_by="NM_001319941.1:10..390"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS82058.1"
                     /db_xref="GeneID:92162"
                     /db_xref="HGNC:HGNC:32371"
                     /db_xref="MIM:617813"
ORIGIN      
        1 madvpgaqra vpgdgpeprd pldcwacavl vtaqnllvaa fnllllvlvl gtillpavtm
       61 lgfgflchsq dlkpgifrpa lppplpersp siplgaaasv dpvlrkapts rkthfpftth
      121 isilni
//
LOCUS       NP_071389                383 aa            linear   PRI 24-DEC-2022
DEFINITION  protein FAM217B isoform 1 [Homo sapiens].
ACCESSION   NP_071389
VERSION     NP_071389.1
DBSOURCE    REFSEQ: accession NM_022106.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 383)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 383)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB476861.2, BC054002.1, AK074295.1, AL109928.33 and CB242399.1.
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes the longer isoform (1). Variants 1 and 2
            encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.243390.1,
                                           SRR1660805.168521.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360816.8/ ENSP00000354056.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..383
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     Protein         1..383
                     /product="protein FAM217B isoform 1"
                     /note="uncharacterized protein C20orf177; protein FAM217B"
                     /calculated_mol_wt=41921
     Region          1..70
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NTX9.1)"
     Region          89..115
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NTX9.1)"
     Region          95..324
                     /region_name="FAM217"
                     /note="FAM217 family; pfam15344"
                     /db_xref="CDD:434652"
     Region          200..222
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NTX9.1)"
     Region          232..251
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NTX9.1)"
     Region          284..325
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NTX9.1)"
     Region          338..383
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NTX9.1)"
     CDS             1..383
                     /gene="FAM217B"
                     /gene_synonym="C20orf177; dJ551D2.5"
                     /coded_by="NM_022106.3:350..1501"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13484.1"
                     /db_xref="GeneID:63939"
                     /db_xref="HGNC:HGNC:16170"
ORIGIN      
        1 mnagpswnkv qhsknssgkr qsksqvphas sqprssltav tqpteeklke sispearrkr
       61 nplgsrcqga sgnklfldfq smkiikenad edsasdlsds eripippspl tppdlnlrae
      121 eidpvyfdlh pgqghtkpey yypnflpspf sswdlrdmal llnaenktea vprvggllgk
      181 yidrliqlew lqvqtvqcek akggkarppt apgtsgalks pgrskliasa lskplphqeg
      241 asksgpsrkk afhheeihps hyafetsprp idvlggtrfc sqrqtlemrt eekkkkssks
      301 tklqrwdlsg sgssskvets ghirvpkqaa vildsadsck asktqahahp rkkgkaescg
      361 hatvssekkl ktngvkqnty klk
//
LOCUS       NP_004323                291 aa            linear   PRI 25-DEC-2022
DEFINITION  valacyclovir hydrolase isoform 1 precursor [Homo sapiens].
ACCESSION   NP_004323
VERSION     NP_004323.2
DBSOURCE    REFSEQ: accession NM_004332.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 291)
  AUTHORS   Marsillach J, Suzuki SM, Richter RJ, McDonald MG, Rademacher PM,
            MacCoss MJ, Hsieh EJ, Rettie AE and Furlong CE.
  TITLE     Human valacyclovir hydrolase/biphenyl hydrolase-like protein is a
            highly efficient homocysteine thiolactonase
  JOURNAL   PLoS One 9 (10), e110054 (2014)
   PUBMED   25333274
  REMARK    GeneRIF: The catalytic efficiency (kcat/Km) of rBPHL for
            homocysteine thiolactone hydrolysis was 7.7 x 10(4) M(-1)s(-1),
            orders of magnitude higher than that of PON1 or Blmh, indicating a
            more significant physiological role for BPHL in detoxifying HCTL
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 291)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 291)
  AUTHORS   Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML and Seielstad M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 291)
  AUTHORS   Lai L, Xu Z, Zhou J, Lee KD and Amidon GL.
  TITLE     Molecular basis of prodrug activation by human valacyclovirase, an
            alpha-amino acid ester hydrolase
  JOURNAL   J Biol Chem 283 (14), 9318-9327 (2008)
   PUBMED   18256025
REFERENCE   5  (residues 1 to 291)
  AUTHORS   Kim I, Crippen GM and Amidon GL.
  TITLE     Structure and specificity of a human valacyclovir activating
            enzyme: a homology model of BPHL
  JOURNAL   Mol Pharm 1 (6), 434-446 (2004)
   PUBMED   16028355
REFERENCE   6  (residues 1 to 291)
  AUTHORS   Kim I, Song X, Vig BS, Mittal S, Shin HC, Lorenzi PJ and Amidon GL.
  TITLE     A novel nucleoside prodrug-activating enzyme: substrate specificity
            of biphenyl hydrolase-like protein
  JOURNAL   Mol Pharm 1 (2), 117-127 (2004)
   PUBMED   15832508
  REMARK    GeneRIF: BPHL catalyzes the hydrolytic activation of the antiviral
            prodrugs valacyclovir and valganciclovir.
REFERENCE   7  (residues 1 to 291)
  AUTHORS   Kim I, Chu XY, Kim S, Provoda CJ, Lee KD and Amidon GL.
  TITLE     Identification of a human valacyclovirase: biphenyl hydrolase-like
            protein as valacyclovir hydrolase
  JOURNAL   J Biol Chem 278 (28), 25348-25356 (2003)
   PUBMED   12732646
  REMARK    GeneRIF: BPHL is a serine hydrolase that catalyzes the hydrolytic
            activation of amino acid ester prodrugs of nuceloside analogs such
            as valacyclovir and valganciclovir.
REFERENCE   8  (residues 1 to 291)
  AUTHORS   Puente XS, Pendas AM and Lopez-otin C.
  TITLE     Structural characterization and chromosomal localization of the
            gene encoding human biphenyl hydrolase-related protein (BPHL)
  JOURNAL   Genomics 51 (3), 459-462 (1998)
   PUBMED   9721218
REFERENCE   9  (residues 1 to 291)
  AUTHORS   Puente XS and Lopez-Otin C.
  TITLE     Cloning and expression analysis of a novel human serine hydrolase
            with sequence similarity to prokaryotic enzymes involved in the
            degradation of aromatic compounds
  JOURNAL   J Biol Chem 270 (21), 12926-12932 (1995)
   PUBMED   7759552
REFERENCE   10 (residues 1 to 291)
  AUTHORS   Larocca D, Peterson JA, Walkup G, Urrea R and Ceriani RL.
  TITLE     Cloning and sequencing of a complementary DNA encoding a Mr 70,000
            human breast epithelial mucin-associated antigen
  JOURNAL   Cancer Res 50 (18), 5925-5930 (1990)
   PUBMED   2393862
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC037778.1, AL031963.40,
            BC106901.1, AJ617684.1 and BM977067.1.
            On Jan 24, 2009 this sequence version replaced NP_004323.1.
            
            Summary: This gene encodes a member of the serine protease family
            of hydrolytic enzymes which contain a serine in their active site.
            The encoded protein may play a role in activation of the antiviral
            prodrug valacyclovir. Alternatively spliced transcript variants
            have been described.[provided by RefSeq, Jan 2009].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.238312.1,
                                           SRR1660807.222525.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380379.10/ ENSP00000369739.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..291
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.2"
     Protein         1..291
                     /product="valacyclovir hydrolase isoform 1 precursor"
                     /note="valacyclovirase; breast epithelial mucin-associated
                     antigen; biphenyl hydrolase-related protein; valacyclovir
                     hydrolase; biphenyl hydrolase-like (serine hydrolase)"
                     /calculated_mol_wt=28824
     sig_peptide     1..37
                     /note="/evidence=ECO:0000269|PubMed:12732646; propagated
                     from UniProtKB/Swiss-Prot (Q86WA6.1)"
                     /calculated_mol_wt=3737
     mat_peptide     38..291
                     /product="Valacyclovir hydrolase. /id=PRO_0000017841"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WA6.1)"
                     /calculated_mol_wt=28824
     Region          44..291
                     /region_name="MhpC"
                     /note="Pimeloyl-ACP methyl ester carboxylesterase
                     [Coenzyme transport and metabolism, General function
                     prediction only]; COG0596"
                     /db_xref="CDD:223669"
     Site            86
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8R164; propagated from
                     UniProtKB/Swiss-Prot (Q86WA6.1)"
     Site            119
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8R164; propagated from
                     UniProtKB/Swiss-Prot (Q86WA6.1)"
     Site            126
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q86WA6.1)"
     Site            140
                     /site_type="binding"
                     /note="Binding of alpha-amino group of substrate;
                     propagated from UniProtKB/Swiss-Prot (Q86WA6.1)"
     Site            191
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8R164; propagated from
                     UniProtKB/Swiss-Prot (Q86WA6.1)"
     Site            217
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8R164; propagated from
                     UniProtKB/Swiss-Prot (Q86WA6.1)"
     Site            243
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8R164; propagated from
                     UniProtKB/Swiss-Prot (Q86WA6.1)"
     Site            260
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8R164; propagated from
                     UniProtKB/Swiss-Prot (Q86WA6.1)"
     Site            271
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8R164; propagated from
                     UniProtKB/Swiss-Prot (Q86WA6.1)"
     CDS             1..291
                     /gene="BPHL"
                     /gene_synonym="BPH-RP; MCNAA; VACVASE"
                     /coded_by="NM_004332.4:31..906"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS4483.2"
                     /db_xref="GeneID:670"
                     /db_xref="HGNC:HGNC:1094"
                     /db_xref="MIM:603156"
ORIGIN      
        1 mvavlggrgv lrlrlllsal kpgihvprag paaafgtsvt sakvavngvq lhyqqtgegd
       61 havlllpgml gsgetdfgpq lknlnkklft vvawdprgyg hsrppdrdfp adfferdakd
      121 avdlmkalkf kkvsllgwsd ggitaliaaa kypsyihkmv iwganayvtd edsmiyegir
      181 dvskwsertr kplealygyd yfartcekwv dgirqfkhlp dgnicrhllp rvqcpalivh
      241 gekdplvprf hadfihkhvk gsrlhlmpeg khnlhlrfad efnklaedfl q
//
LOCUS       NP_001090                386 aa            linear   PRI 25-DEC-2022
DEFINITION  prostatic acid phosphatase isoform PAP precursor [Homo sapiens].
ACCESSION   NP_001090
VERSION     NP_001090.2
DBSOURCE    REFSEQ: accession NM_001099.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 386)
  AUTHORS   Alpert E, Akhavan A, Gruzman A, Hansen WJ, Lehrer-Graiwer J, Hall
            SC, Johansen E, McAllister S, Gulati M, Lin MF and Lingappa VR.
  TITLE     Multifunctionality of prostatic acid phosphatase in prostate cancer
            pathogenesis
  JOURNAL   Biosci Rep 41 (10) (2021)
   PUBMED   34677582
  REMARK    GeneRIF: Multifunctionality of prostatic acid phosphatase in
            prostate cancer pathogenesis.
REFERENCE   2  (residues 1 to 386)
  AUTHORS   Pan X, Sang S, Fei G, Jin L, Liu H, Wang Z, Wang H and Zhong C.
  TITLE     Enhanced Activities of Blood Thiamine Diphosphatase and
            Monophosphatase in Alzheimer's Disease
  JOURNAL   PLoS One 12 (1), e0167273 (2017)
   PUBMED   28060825
  REMARK    GeneRIF: Enhanced TDPase and TMPase activities may contribute to
            the reduction of TDP level in AD patients. The results imply that
            an imbalance of phosphorylation-dephosphorylation related to
            thiamine and glucose metabolism may be a potential target for AD
            prevention and therapy.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 386)
  AUTHORS   Srivastava KR, French KC, Tzul FO, Makhatadze GI and Lapidus LJ.
  TITLE     Intramolecular diffusion controls aggregation of the PAPf39 peptide
  JOURNAL   Biophys Chem 216, 37-43 (2016)
   PUBMED   27393931
  REMARK    GeneRIF: we have measured the intramolecular diffusion of the full
            length and 8-residue deletion peptides at two different pHs and
            found a correlation with fibrillization lag time. These results can
            be explained by a simple kinetic model of the early stages of
            aggregation in which oligomerization is controlled by the rate of
            peptide reconfiguration.
REFERENCE   4  (residues 1 to 386)
  AUTHORS   Staley LA, Ebbert MT, Bunker D, Bailey M, Ridge PG, Goate AM and
            Kauwe JS.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Variants in ACPP are associated with cerebrospinal fluid Prostatic
            Acid Phosphatase levels
  JOURNAL   BMC Genomics 17 Suppl 3 (Suppl 3), 439 (2016)
   PUBMED   27357282
  REMARK    GeneRIF: Thirteen single nucleotide polymorphism (SNPs) in acid
            phosphatase prostate (ACPP) were suggested as candidate causal
            alleles that underlie ACPP regulation and expression.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 386)
  AUTHORS   Zylka MJ, Sowa NA, Taylor-Blake B, Twomey MA, Herrala A, Voikar V
            and Vihko P.
  TITLE     Prostatic acid phosphatase is an ectonucleotidase and suppresses
            pain by generating adenosine
  JOURNAL   Neuron 60 (1), 111-122 (2008)
   PUBMED   18940592
  REMARK    GeneRIF: Suppresses pain by functioning as an ecto-5'-nucleotidase,
            activating A1-adenosine receptors in the dorsal spinal cord.
REFERENCE   6  (residues 1 to 386)
  AUTHORS   Quintero IB, Araujo CL, Pulkka AE, Wirkkala RS, Herrala AM,
            Eskelinen EL, Jokitalo E, Hellstrom PA, Tuominen HJ, Hirvikoski PP
            and Vihko PT.
  TITLE     Prostatic acid phosphatase is not a prostate specific target
  JOURNAL   Cancer Res 67 (14), 6549-6554 (2007)
   PUBMED   17638863
  REMARK    GeneRIF: Prostatic acid phosphatase is not a prostate specific
            target
REFERENCE   7  (residues 1 to 386)
  AUTHORS   Sharief FS and Li SS.
  TITLE     Structure of human prostatic acid phosphatase gene
  JOURNAL   Biochem Biophys Res Commun 184 (3), 1468-1476 (1992)
   PUBMED   1375464
REFERENCE   8  (residues 1 to 386)
  AUTHORS   Nguyen L, Chapdelaine A and Chevalier S.
  TITLE     Prostatic acid phosphatase in serum of patients with prostatic
            cancer is a specific phosphotyrosine acid phosphatase
  JOURNAL   Clin Chem 36 (8 Pt 1), 1450-1455 (1990)
   PUBMED   1696855
REFERENCE   9  (residues 1 to 386)
  AUTHORS   Cooper,J.F., Foti,A. and Herschman,H.
  TITLE     Combined serum and bone marrow radioimmunoassays for prostatic acid
            phosphatase
  JOURNAL   J Urol 122 (4), 498-502 (1979)
   PUBMED   480493
REFERENCE   10 (residues 1 to 386)
  AUTHORS   Cooper,J.F., Foti,A.G. and Shank,P.W.
  TITLE     Radioimmunochemical measurement of bone marrow prostatic acid
            phosphatase
  JOURNAL   J Urol 119 (3), 392-395 (1978)
   PUBMED   76687
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC016344.1, BC008493.1,
            AC020633.3 and AA578274.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 12, 1999 this sequence version replaced NP_001090.1.
            
            Summary: This gene encodes an enzyme that catalyzes the conversion
            of orthophosphoric monoester to alcohol and orthophosphate. It is
            synthesized under androgen regulation and is secreted by the
            epithelial cells of the prostate gland. An alternatively spliced
            transcript variant encoding a longer isoform has been found for
            this gene. This isoform contains a transmembrane domain and is
            localized in the plasma membrane-endosomal-lysosomal pathway.
            [provided by RefSeq, Sep 2008].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes the shorter, secreted isoform (PAP).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M24902.1, X52174.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000336375.10/ ENSP00000337471.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..386
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     Protein         1..386
                     /product="prostatic acid phosphatase isoform PAP
                     precursor"
                     /EC_number="3.1.3.2"
                     /EC_number="3.1.3.48"
                     /EC_number="3.1.3.5"
                     /note="prostatic acid phosphotase; TMPase;
                     ecto-5'-nucleotidase; thiamine monophosphatase; acid
                     phosphatase, prostate; protein tyrosine phosphatase ACP3"
                     /calculated_mol_wt=41004
     sig_peptide     1..32
                     /calculated_mol_wt=3580
     mat_peptide     33..386
                     /product="prostatic acid phosphatase isoform PAP"
                     /calculated_mol_wt=41004
     Region          34..332
                     /region_name="HP_HAP_like"
                     /note="Histidine phosphatase domain found in histidine
                     acid phosphatases and phytases; contains a His residue
                     which is phosphorylated during the reaction; cd07061"
                     /db_xref="CDD:132717"
     Site            order(43..44,47,111,289..290)
                     /site_type="active"
                     /note="catalytic core [active]"
                     /db_xref="CDD:132717"
     Site            49
                     /site_type="other"
                     /note="Important for substrate specificity; propagated
                     from UniProtKB/Swiss-Prot (P15309.3)"
     Site            94
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:10639192; propagated from
                     UniProtKB/Swiss-Prot (P15309.3)"
     Site            138
                     /site_type="other"
                     /note="Required for homodimerization.
                     /evidence=ECO:0000250|UniProtKB:P20646; propagated from
                     UniProtKB/Swiss-Prot (P15309.3)"
     Site            144
                     /site_type="other"
                     /note="Required for homodimerization.
                     /evidence=ECO:0000250|UniProtKB:P20646; propagated from
                     UniProtKB/Swiss-Prot (P15309.3)"
     Bond            join(161,372)
                     /bond_type="disulfide"
                     /note="disulfide bridge bond"
     Site            206
                     /site_type="other"
                     /note="Required for structural stability.
                     /evidence=ECO:0000269|PubMed:9584846; propagated from
                     UniProtKB/Swiss-Prot (P15309.3)"
     Bond            join(215,313)
                     /bond_type="disulfide"
                     /note="disulfide bridge bond"
     Site            220
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:10639192,
                     ECO:0000269|PubMed:12525165; propagated from
                     UniProtKB/Swiss-Prot (P15309.3)"
     Site            333
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12525165; propagated from
                     UniProtKB/Swiss-Prot (P15309.3)"
     Bond            join(347,357)
                     /bond_type="disulfide"
                     /note="disulfide bridge bond"
     CDS             1..386
                     /gene="ACP3"
                     /gene_synonym="5'-NT; ACP-3; ACPP; TM-PAP"
                     /coded_by="NM_001099.5:51..1211"
                     /note="isoform PAP precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS3073.1"
                     /db_xref="GeneID:55"
                     /db_xref="HGNC:HGNC:125"
                     /db_xref="MIM:171790"
ORIGIN      
        1 mraaplllar aaslslgflf llffwldrsv lakelkfvtl vfrhgdrspi dtfptdpike
       61 sswpqgfgql tqlgmeqhye lgeyirkryr kflnesykhe qvyirstdvd rtlmsamtnl
      121 aalfppegvs iwnpillwqp ipvhtvplse dqllylpfrn cprfqelese tlkseefqkr
      181 lhpykdfiat lgklsglhgq dlfgiwskvy dplycesvhn ftlpswated tmtklrelse
      241 lsllslygih kqkeksrlqg gvlvneilnh mkratqipsy kklimysahd ttvsglqmal
      301 dvyngllppy aschltelyf ekgeyfvemy yrnetqhepy plmlpgcsps cplerfaelv
      361 gpvipqdwst ecmttnshqg tedstd
//
LOCUS       NP_001306049             449 aa            linear   PRI 26-DEC-2022
DEFINITION  aspartyl aminopeptidase isoform e [Homo sapiens].
ACCESSION   NP_001306049
VERSION     NP_001306049.1
DBSOURCE    REFSEQ: accession NM_001319120.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 449)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 449)
  AUTHORS   Geng N, Zhang W, Li Y and Li F.
  TITLE     Aspartyl Aminopeptidase Suppresses Proliferation, Invasion, and
            Stemness of Breast Cancer Cells via Targeting CD44
  JOURNAL   Anat Rec (Hoboken) 302 (12), 2178-2185 (2019)
   PUBMED   31228326
  REMARK    GeneRIF: Aspartyl Aminopeptidase Suppresses Proliferation,
            Invasion, and Stemness of Breast Cancer Cells via Targeting CD44.
REFERENCE   3  (residues 1 to 449)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (residues 1 to 449)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam
            S, MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 449)
  AUTHORS   Markadieu N, Rios K, Spiller BW, McDonald WH, Welling PA and
            Delpire E.
  TITLE     Short forms of Ste20-related proline/alanine-rich kinase (SPAK) in
            the kidney are created by aspartyl aminopeptidase (Dnpep)-mediated
            proteolytic cleavage
  JOURNAL   J Biol Chem 289 (42), 29273-29284 (2014)
   PUBMED   25164821
REFERENCE   6  (residues 1 to 449)
  AUTHORS   Bastos-Amador P, Royo F, Gonzalez E, Conde-Vancells J, Palomo-Diez
            L, Borras FE and Falcon-Perez JM.
  TITLE     Proteomic analysis of microvesicles from plasma of healthy donors
            reveals high individual variability
  JOURNAL   J Proteomics 75 (12), 3574-3584 (2012)
   PUBMED   22516433
REFERENCE   7  (residues 1 to 449)
  AUTHORS   Chaikuad A, Pilka ES, De Riso A, von Delft F, Kavanagh KL,
            Venien-Bryan C, Oppermann U and Yue WW.
  TITLE     Structure of human aspartyl aminopeptidase complexed with substrate
            analogue: insight into catalytic mechanism, substrate specificity
            and M18 peptidase family
  JOURNAL   BMC Struct Biol 12, 14 (2012)
   PUBMED   22720794
  REMARK    GeneRIF: The crystal structure of human DNPEP complexed with zinc
            and a substrate analogue aspartate-beta-hydroxamate reveals a
            dodecameric machinery built by domain-swapped dimers.
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 449)
  AUTHORS   Prieto I, Hermoso F, Gasparo Md, Vargas F, Alba F, Segarra AB,
            Banegas I and Ramirez M.
  TITLE     Angiotensinase activities in the kidney of renovascular
            hypertensive rats
  JOURNAL   Peptides 24 (5), 755-760 (2003)
   PUBMED   12895663
REFERENCE   9  (residues 1 to 449)
  AUTHORS   Wilk S, Wilk E and Magnusson RP.
  TITLE     Identification of histidine residues important in the catalysis and
            structure of aspartyl aminopeptidase
  JOURNAL   Arch Biochem Biophys 407 (2), 176-183 (2002)
   PUBMED   12413488
  REMARK    GeneRIF: Identification of histidine residues important in the
            catalysis and structure of aspartyl aminopeptidase
REFERENCE   10 (residues 1 to 449)
  AUTHORS   Wilk S, Wilk E and Magnusson RP.
  TITLE     Purification, characterization, and cloning of a cytosolic aspartyl
            aminopeptidase
  JOURNAL   J Biol Chem 273 (26), 15961-15970 (1998)
   PUBMED   9632644
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA203030.1, AK001777.1,
            AC053503.7, BI256589.1 and AK301919.1.
            
            Summary: The protein encoded by this gene is an aminopeptidase
            which prefers acidic amino acids, and specifically favors aspartic
            acid over glutamic acid. It is thought to be a cytosolic protein
            involved in general metabolism of intracellular proteins. Several
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (6) differs in the 5' UTR and
            coding sequence and lacks an alternate in-frame exon compared to
            variant 1. The resulting isoform (e) has a shorter and distinct
            N-terminus and lacks an alternate internal segment compared to
            isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.2083267.1,
                                           SRR18074968.2746230.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     Protein         1..449
                     /product="aspartyl aminopeptidase isoform e"
                     /EC_number="3.4.11.21"
                     /calculated_mol_wt=49324
     Region          28..437
                     /region_name="M18_DAP"
                     /note="M18 peptidase aspartyl aminopeptidase; cd05658"
                     /db_xref="CDD:349908"
     Site            order(104,238..239,275..276,320..321,323,348,355,388..389,
                     413..414)
                     /site_type="active"
                     /db_xref="CDD:349908"
     CDS             1..449
                     /gene="DNPEP"
                     /gene_synonym="ASPEP; DAP"
                     /coded_by="NM_001319120.2:119..1468"
                     /note="isoform e is encoded by transcript variant 6"
                     /db_xref="GeneID:23549"
                     /db_xref="HGNC:HGNC:2981"
                     /db_xref="MIM:611367"
ORIGIN      
        1 msghsptrga mqvamngkar keavqtaake llkfvnrsps pfhavaecrn rllqagfsel
       61 ketekwnikp eskyfmtrns stiiafavgg qyvpgngfsl igahtdspcl rvkrrsrrsq
      121 vgfqqvgvet ygggiwstwf drdltlagrv ivkcptsgrl eqqlvhverp ilriphlaih
      181 lqrninenfg pntemhlvpi lataiqeele kgtpepgpln avvlggayde fifaprldnl
      241 hscfcalqal idscagpgsl atephvrmvt lydneevgse saqgaqsllt elvlrrisas
      301 cqhptafeea ipksfmisad mahavhpnyl dkheenhrpl fhkgpvikvn skqryasnav
      361 sealirevan kvkvplqdlm vrndtpcgtt igpilasrlg lrvldlgspq lamhsirema
      421 cttgvlqtlt lfkgffelfp slshnllvd
//
LOCUS       NP_001276118             132 aa            linear   PRI 26-DEC-2022
DEFINITION  zinc finger protein 302 isoform d [Homo sapiens].
ACCESSION   NP_001276118
VERSION     NP_001276118.1
DBSOURCE    REFSEQ: accession NM_001289189.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 132)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 132)
  AUTHORS   Kumar S, Connor JR, Dodds RA, Halsey W, Van Horn M, Mao J, Sathe G,
            Mui P, Agarwal P, Badger AM, Lee JC, Gowen M and Lark MW.
  TITLE     Identification and initial characterization of 5000 expressed
            sequenced tags (ESTs) each from adult human normal and
            osteoarthritic cartilage cDNA libraries
  JOURNAL   Osteoarthritis Cartilage 9 (7), 641-653 (2001)
   PUBMED   11597177
REFERENCE   3  (residues 1 to 132)
  AUTHORS   Abrink M, Aveskogh M and Hellman L.
  TITLE     Isolation of cDNA clones for 42 different Kruppel-related zinc
            finger proteins expressed in the human monoblast cell line U-937
  JOURNAL   DNA Cell Biol 14 (2), 125-136 (1995)
   PUBMED   7865130
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB066674.1, BG926751.1, AK297551.1, AC020910.7 and AL834318.1.
            
            Summary: This gene encodes a member of the zinc-finger protein
            family. The encoded protein contains seven C2H2-type zinc fingers
            and a KRAB domain, but its function has yet to be determined.
            Alternatively spliced transcript variants have been described.
            [provided by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (11) differs in the 5' UTR, uses
            an alternate in-frame splice junction, lacks an alternate in-frame
            exon, and uses another alternate splice junction compared to
            variant 3. The resulting isoform (d) lacks an alternate internal
            segment, contains an additional internal aa, and has a shorter and
            distinct C-terminus compared to isoform a. Variants 10 and 11 both
            encode the same isoform (d).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK297551.1, SRR7410570.653262.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..132
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     Protein         1..132
                     /product="zinc finger protein 302 isoform d"
                     /note="zinc finger protein 327"
                     /calculated_mol_wt=14926
     Region          4..65
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     CDS             1..132
                     /gene="ZNF302"
                     /gene_synonym="HSD16; MST154; MSTP154; ZNF135L; ZNF140L;
                     ZNF327"
                     /coded_by="NM_001289189.2:248..646"
                     /note="isoform d is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS74331.1"
                     /db_xref="GeneID:55900"
                     /db_xref="HGNC:HGNC:13848"
ORIGIN      
        1 msqvtfsdva idfsheewac ldsaqrdlyk dvmvqnyenl vsvaglsvtk pyvimlledg
       61 kepwmmekkl skaypfplsh svpasvnfgf salfehcsev teifelselc vfwvlhflsn
      121 spnstveaff kk
//
LOCUS       NP_001353689             406 aa            linear   PRI 27-DEC-2022
DEFINITION  sperm-associated antigen 8 isoform 3 [Homo sapiens].
ACCESSION   NP_001353689 XP_024303281
VERSION     NP_001353689.1
DBSOURCE    REFSEQ: accession NM_001366760.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 406)
  AUTHORS   Wu H, Chen Y, Miao S, Zhang C, Zong S, Koide SS and Wang L.
  TITLE     Sperm associated antigen 8 (SPAG8), a novel regulator of activator
            of CREM in testis during spermatogenesis
  JOURNAL   FEBS Lett 584 (13), 2807-2815 (2010)
   PUBMED   20488182
  REMARK    GeneRIF: Results indicate that SPAG8 acts as a regulator of ACT and
            plays an important role in CREM-ACT-mediated gene transcription
            during spermatogenesis.
REFERENCE   2  (residues 1 to 406)
  AUTHORS   Li R, Tang XL, Miao SY, Zong SD and Wang LF.
  TITLE     Regulation of the G2/M phase of the cell cycle by sperm associated
            antigen 8 (SPAG8) protein
  JOURNAL   Cell Biochem Funct 27 (5), 264-268 (2009)
   PUBMED   19548270
  REMARK    GeneRIF: Sperm associated antigen 8 might be involved in the
            regulation of cell cycle by changing the phosphorylation level of
            Tyr15 on CDC2 Protein Kinase.
REFERENCE   3  (residues 1 to 406)
  AUTHORS   Cheng GY, Shi JL, Wang M, Hu YQ, Liu CM, Wang YF and Xu C.
  TITLE     Inhibition of mouse acrosome reaction and sperm-zona pellucida
            binding by anti-human sperm membrane protein 1 antibody
  JOURNAL   Asian J Androl 9 (1), 23-29 (2007)
   PUBMED   17187156
  REMARK    GeneRIF: The antibody of this recombinant protein inhibits the
            mouse acrosome reaction and prmits mouse sperm-zona pellucida
            binding.
REFERENCE   4  (residues 1 to 406)
  AUTHORS   Tang X, Zhang J, Cai Y, Miao S, Zong S, Koide SS and Wang L.
  TITLE     Sperm membrane protein (hSMP-1) and RanBPM complex in the
            microtubule-organizing centre
  JOURNAL   J Mol Med (Berl) 82 (6), 383-388 (2004)
   PUBMED   15014887
REFERENCE   5  (residues 1 to 406)
  AUTHORS   Zhang XD, Miao SY, Wang LF, Li Y, Zong SD, Yan YC and Koide SS.
  TITLE     Human sperm membrane protein (hSMP-1): a developmental
            testis-specific component during germ cell differentiation
  JOURNAL   Arch Androl 45 (3), 239-246 (2000)
   PUBMED   11111873
REFERENCE   6  (residues 1 to 406)
  AUTHORS   Wang H, Miao S, Chen D, Wang L and Koide SS.
  TITLE     Assignment of chromosomal locus and evidence for alternatively
            spliced mRNAs of a human sperm membrane protein (hSMP-1)
  JOURNAL   Biochim Biophys Acta 1447 (1), 119-124 (1999)
   PUBMED   10500252
REFERENCE   7  (residues 1 to 406)
  AUTHORS   Diekman AB and Herr JC.
  TITLE     Sperm antigens and their use in the development of an
            immunocontraceptive
  JOURNAL   Am J Reprod Immunol 37 (1), 111-117 (1997)
   PUBMED   9138444
  REMARK    Review article
REFERENCE   8  (residues 1 to 406)
  AUTHORS   Liu QY, Wang LF, Miao SY and Catterall JF.
  TITLE     Expression and characterization of a novel human sperm membrane
            protein
  JOURNAL   Biol Reprod 54 (2), 323-330 (1996)
   PUBMED   8788182
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB250635.1 and AL133410.32.
            On Jan 26, 2019 this sequence version replaced XP_024303281.1.
            
            Summary: The correlation of anti-sperm antibodies with cases of
            unexplained infertility implicates a role for these antibodies in
            blocking fertilization. Improved diagnosis and treatment of
            immunologic infertility, as well as identification of proteins for
            targeted contraception, are dependent on the identification and
            characterization of relevant sperm antigens. The protein encoded by
            this gene is recognized by sperm agglutinating antibodies from an
            infertile woman. This protein is localized in germ cells of the
            testis at all stages of spermatogenesis and is localized to the
            acrosomal region of mature spermatozoa. This protein interacts with
            ACT (activator of CREM in testis) and may play a role in CREM (cAMP
            response element modulator)-ACT-mediated gene transcription during
            spermatogenesis. This protein may also play a role in
            spermatogenesis by regulating microtubule formation and cell
            division. Alternatively spliced variants that encode different
            protein isoforms have been described but the full-length sequences
            of only two have been determined. [provided by RefSeq, Jul 2012].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.323852.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..406
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     Protein         1..406
                     /product="sperm-associated antigen 8 isoform 3"
                     /note="sperm membrane protein 1; sperm membrane protein
                     BS-84; testicular tissue protein Li 177"
                     /calculated_mol_wt=42258
     Region          1..42
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99932.3)"
     Region          75..99
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99932.3)"
     Region          127..215
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99932.3)"
     CDS             1..406
                     /gene="SPAG8"
                     /gene_synonym="BS-84; CILD28; CT142; HSD-1; hSMP-1; SMP1;
                     SPAG3"
                     /coded_by="NM_001366760.2:116..1336"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:26206"
                     /db_xref="HGNC:HGNC:14105"
                     /db_xref="MIM:605731"
ORIGIN      
        1 metnestegs rsrsrsldiq psseglgpts epfpssddsp rsalaaataa aaaaasaaaa
       61 taafttakaa alstktpapc sefmepssdp sllgepcagp gfthniahgs lgfepvyvsc
      121 iaqdtctttd hssnpgpvpg sssgpvlgss sgaghgsgsg sgpgcgsvpg sgsgpgpgsg
      181 pgsgpghgsg shpgpasgpg pdtgpdsels pcippgfrnl vadrvpnyts wsqhcpwepq
      241 kqppweflqv lepgarglwk ppdikgklmv cyetlprgqc llynweeera tnhldqvpsm
      301 qdgsesfffr hghrglltmq lkspmpsstt qkdsyqppgn vywplrgkre amlemllqhq
      361 ickevqaeqe ptrklfeves vthhdyrmel aqagtpaptk hlvntq
//
LOCUS       NP_001363002             687 aa            linear   PRI 27-DEC-2022
DEFINITION  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic
            phosphodiesterase 8B isoform 21 [Homo sapiens].
ACCESSION   NP_001363002 XP_016865497
VERSION     NP_001363002.1
DBSOURCE    REFSEQ: accession NM_001376073.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 687)
  AUTHORS   Campolo F, Capponi C, Tarsitano MG, Tenuta M, Pozza C, Gianfrilli
            D, Magliocca F, Venneri MA, Vicini E, Lenzi A, Isidori AM and
            Barbagallo F.
  TITLE     cAMP-specific phosphodiesterase 8A and 8B isoforms are
            differentially expressed in human testis and Leydig cell tumor
  JOURNAL   Front Endocrinol (Lausanne) 13, 1010924 (2022)
   PUBMED   36277728
  REMARK    GeneRIF: cAMP-specific phosphodiesterase 8A and 8B isoforms are
            differentially expressed in human testis and Leydig cell tumor.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 687)
  AUTHORS   Sun Z, Yuan X, Du P and Chen P.
  TITLE     High Expression of PDE8B and DUOX2 Associated with Ability of
            Metastasis in Thyroid Carcinoma
  JOURNAL   Comput Math Methods Med 2021, 2362195 (2021)
   PUBMED   34966441
  REMARK    GeneRIF: High Expression of PDE8B and DUOX2 Associated with Ability
            of Metastasis in Thyroid Carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 687)
  AUTHORS   Ni J, Yi X, Liu Z, Sun W, Yuan Y, Yang J, Jiang H, Shen L, Tang B,
            Liu Y and Wang J.
  TITLE     Clinical findings of autosomal-dominant striatal degeneration and
            PDE8B mutation screening in parkinsonism and related disorders
  JOURNAL   Parkinsonism Relat Disord 69, 94-98 (2019)
   PUBMED   31726290
  REMARK    GeneRIF: Clinical findings of autosomal-dominant striatal
            degeneration and PDE8B mutation screening in parkinsonism and
            related disorders.
REFERENCE   4  (residues 1 to 687)
  AUTHORS   Fan TS, Wu RM, Lin HI, Cheng C and Lin CH.
  TITLE     PDE8B mutation is not associated with Parkinson's disease in a
            Taiwanese population
  JOURNAL   Neurobiol Aging 71, 265 (2018)
   PUBMED   29909144
  REMARK    GeneRIF: Study shows that PDE8B may not play a major role in
            familial and early-onset Parkinson disease without distinctive
            lesions of the striatum on brain MRI in this Taiwanese population.
REFERENCE   5  (residues 1 to 687)
  AUTHORS   Soto-Pedre E, Siddiqui MK, Doney AS, Palmer CNA, Pearson ER and
            Leese GP.
  TITLE     Replication confirms the association of loci in FOXE1, PDE8B, CAPZB
            and PDE10A with thyroid traits: a Genetics of Diabetes Audit and
            Research Tayside study (GoDARTS)
  JOURNAL   Pharmacogenet Genomics 27 (10), 356-362 (2017)
   PUBMED   28727628
  REMARK    GeneRIF: replication confirmed at genome-wide significance the
            association of loci at FOXE1 with hypothyroidism, and PDE8B, CAPZB
            and PDE10A with serum TSH. A total of 12 SNPs seemed to explain
            nearly 7% of the serum TSH variation
REFERENCE   6  (residues 1 to 687)
  AUTHORS   Perez-Torres S, Cortes R, Tolnay M, Probst A, Palacios JM and
            Mengod G.
  TITLE     Alterations on phosphodiesterase type 7 and 8 isozyme mRNA
            expression in Alzheimer's disease brains examined by in situ
            hybridization
  JOURNAL   Exp Neurol 182 (2), 322-334 (2003)
   PUBMED   12895443
  REMARK    GeneRIF: In Alzheimer's disease brains we found that PDE8B was the
            only PDE isozyme showing a significant increase, in cortical areas
            and parts of the hippocampal formation, at Braak stages III-VI
REFERENCE   7  (residues 1 to 687)
  AUTHORS   Gamanuma M, Yuasa K, Sasaki T, Sakurai N, Kotera J and Omori K.
  TITLE     Comparison of enzymatic characterization and gene organization of
            cyclic nucleotide phosphodiesterase 8 family in humans
  JOURNAL   Cell Signal 15 (6), 565-574 (2003)
   PUBMED   12681444
  REMARK    GeneRIF: Comparison of enzymatic characterization and gene
            organization of PDE8B and PDE8A.
REFERENCE   8  (residues 1 to 687)
  AUTHORS   Hayashi M, Shimada Y, Nishimura Y, Hama T and Tanaka T.
  TITLE     Genomic organization, chromosomal localization, and alternative
            splicing of the human phosphodiesterase 8B gene
  JOURNAL   Biochem Biophys Res Commun 297 (5), 1253-1258 (2002)
   PUBMED   12372422
  REMARK    GeneRIF: selective usage of exons produces three different PDE8B
            variants that exhibit a tissue-specific expression pattern
REFERENCE   9  (residues 1 to 687)
  AUTHORS   Persani L, Borgato S, Lania A, Filopanti M, Mantovani G, Conti M
            and Spada A.
  TITLE     Relevant cAMP-specific phosphodiesterase isoforms in human
            pituitary: effect of Gs(alpha) mutations
  JOURNAL   J Clin Endocrinol Metab 86 (8), 3795-3800 (2001)
   PUBMED   11502813
REFERENCE   10 (residues 1 to 687)
  AUTHORS   Hayashi M, Matsushima K, Ohashi H, Tsunoda H, Murase S, Kawarada Y
            and Tanaka T.
  TITLE     Molecular cloning and characterization of human PDE8B, a novel
            thyroid-specific isozyme of 3',5'-cyclic nucleotide
            phosphodiesterase
  JOURNAL   Biochem Biophys Res Commun 250 (3), 751-756 (1998)
   PUBMED   9784418
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008581.11, AC022422.5,
            KF457931.1, KC877015.1 and AC010234.5.
            On Nov 8, 2019 this sequence version replaced XP_016865497.1.
            
            Summary: The protein encoded by this gene is a cyclic nucleotide
            phosphodiesterase (PDE) that catalyzes the hydrolysis of the second
            messenger cAMP. The encoded protein, which does not hydrolyze cGMP,
            is resistant to several PDE inhibitors. Defects in this gene are a
            cause of autosomal dominant striatal degeneration (ADSD). Several
            transcript variants encoding different isoforms have been found for
            this gene.[provided by RefSeq, Jul 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.279732.1,
                                           SRR14038193.3896271.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144120, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..687
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.3"
     Protein         1..687
                     /product="high affinity cAMP-specific and IBMX-insensitive
                     3',5'-cyclic phosphodiesterase 8B isoform 21"
                     /EC_number="3.1.4.53"
                     /note="3',5' cyclic nucleotide phosphodiesterase 8B; high
                     affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic
                     phosphodiesterase 8B; cell proliferation-inducing gene 22
                     protein"
                     /calculated_mol_wt=77676
     Region          57..210
                     /region_name="30.2"
                     /note="hypothetical protein; Provisional; PHA02597"
                     /db_xref="CDD:222901"
     Region          416..663
                     /region_name="PDEase_I"
                     /note="3'5'-cyclic nucleotide phosphodiesterase;
                     pfam00233"
                     /db_xref="CDD:425542"
     Site            order(421,457..458,583)
                     /site_type="other"
                     /note="Zn2+ binding site [ion binding]"
                     /db_xref="CDD:238032"
     Site            458
                     /site_type="other"
                     /note="Mg2+ binding site [ion binding]"
                     /db_xref="CDD:238032"
     CDS             1..687
                     /gene="PDE8B"
                     /gene_synonym="ADSD; PPNAD3"
                     /coded_by="NM_001376073.1:148..2211"
                     /note="isoform 21 is encoded by transcript variant 23"
                     /db_xref="GeneID:8622"
                     /db_xref="HGNC:HGNC:8794"
                     /db_xref="MIM:603390"
ORIGIN      
        1 mdqlycppsa cqqvssaevr igpmrltqdp iqvllifake dsqsdgfwwa cdragyrcni
       61 artpesalec fldkhheiiv idhrqtqnfd aeavcrsira tnpsehtvil avvsrvsddh
      121 eeasvlpllh agfnrrfmen ssiiacynel iqiehgevrs qfklracnsv ftaldhchea
      181 ieitsddhvi qihkihrdsg dnsqtephsf ryknrrkesi dvksissrgs dapslqnrry
      241 psmarihsmt ieapitkvin iinaaqensp vtvaealdrv leilrttely spqlgtkded
      301 phtsdlvggl mtdglrrlsg neyvftknvh qshshlampi tindvppcis qlldneeswd
      361 fnifeleait hkrplvylgl kvfsrfgvce flncsettlr awfqvieany hssnayhnst
      421 haadvlhata fflgkervkg sldqldevaa liaatvhdvd hpgrtnsflc nagselavly
      481 ndtavleshh talafqltvk dtkcnifkni drnhyrtlrq aiidmvlate mtkhfehvnk
      541 fvnsinkpma aeiegsdcec npagknfpen qilikrmmik cadvanpcrp ldlciewagr
      601 iseeyfaqtd eekrqglpvv mpvfdrntcs ipksqisfid yfitdmfdaw dafahlpalm
      661 qhladnykhw ktlddlkcks lrlpsds
//
LOCUS       NP_001371333             765 aa            linear   PRI 28-DEC-2022
DEFINITION  F-BAR domain only protein 1 isoform l [Homo sapiens].
ACCESSION   NP_001371333
VERSION     NP_001371333.1
DBSOURCE    REFSEQ: accession NM_001384404.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 765)
  AUTHORS   Park S, Lee AY, Cho KC, Jung JH, Hong SH, Kim S, Kim KP, Park J and
            Cho MH.
  TITLE     FCH domain only 1 (FCHo1), a potential new biomarker for lung
            cancer
  JOURNAL   Cancer Gene Ther 29 (7), 901-907 (2022)
   PUBMED   34413495
  REMARK    GeneRIF: FCH domain only 1 (FCHo1), a potential new biomarker for
            lung cancer.
REFERENCE   2  (residues 1 to 765)
  AUTHORS   Aydemir S, Islek A, Nepesov S, Yaman Y, Baysoy G, Beser OF,
            Cokugras FC, Baris S, Karakoc-Aydiner E, Cokugras H, Hubrack SZ,
            Kendir Demirkol Y, Lo B, Kiykim A and Ozen A.
  TITLE     Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1
            Deficiency
  JOURNAL   J Clin Immunol 41 (6), 1406-1410 (2021)
   PUBMED   33950325
  REMARK    GeneRIF: Inflammatory Bowel Disease and Guillain Barre Syndrome in
            FCHO1 Deficiency.
REFERENCE   3  (residues 1 to 765)
  AUTHORS   Day KJ, Kago G, Wang L, Richter JB, Hayden CC, Lafer EM and
            Stachowiak JC.
  TITLE     Liquid-like protein interactions catalyse assembly of endocytic
            vesicles
  JOURNAL   Nat Cell Biol 23 (4), 366-376 (2021)
   PUBMED   33820972
  REMARK    GeneRIF: Liquid-like protein interactions catalyse assembly of
            endocytic vesicles.
REFERENCE   4  (residues 1 to 765)
  AUTHORS   Lyszkiewicz M, Zietara N, Frey L, Pannicke U, Stern M, Liu Y, Fan
            Y, Puchalka J, Hollizeck S, Somekh I, Rohlfs M, Yilmaz T, Unal E,
            Karakukcu M, Patiroglu T, Kellerer C, Karasu E, Sykora KW, Lev A,
            Simon A, Somech R, Roesler J, Hoenig M, Keppler OT, Schwarz K and
            Klein C.
  TITLE     Human FCHO1 deficiency reveals role for clathrin-mediated
            endocytosis in development and function of T cells
  JOURNAL   Nat Commun 11 (1), 1031 (2020)
   PUBMED   32098969
  REMARK    GeneRIF: A critical role of FCHO1 in the clathrin-mediated
            endocytosis and T cells development and function.
            Erratum:[Nat Commun. 2020 Apr 20;11(1):1963. PMID: 32312977]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 765)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 765)
  AUTHORS   Umasankar PK, Ma L, Thieman JR, Jha A, Doray B, Watkins SC and
            Traub LM.
  TITLE     A clathrin coat assembly role for the muniscin protein central
            linker revealed by TALEN-mediated gene editing
  JOURNAL   Elife 3, e04137 (2014)
   PUBMED   25303365
  REMARK    GeneRIF: The central linker of FCHO proteins acts as an allosteric
            regulator of the prime endocytic adaptor, AP-2.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 765)
  AUTHORS   Umasankar PK, Sanker S, Thieman JR, Chakraborty S, Wendland B,
            Tsang M and Traub LM.
  TITLE     Distinct and separable activities of the endocytic clathrin-coat
            components Fcho1/2 and AP-2 in developmental patterning
  JOURNAL   Nat Cell Biol 14 (5), 488-501 (2012)
   PUBMED   22484487
  REMARK    GeneRIF: show that the mu-homology domain of FCHO1/2 represents an
            endocytic interaction hub
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 765)
  AUTHORS   Henne WM, Boucrot E, Meinecke M, Evergren E, Vallis Y, Mittal R and
            McMahon HT.
  TITLE     FCHo proteins are nucleators of clathrin-mediated endocytosis
  JOURNAL   Science 328 (5983), 1281-1284 (2010)
   PUBMED   20448150
  REMARK    GeneRIF: study reports FCHo1/2 were required for plasma membrane
            clathrin-coated vesicle (CCV) budding & marked sites of CCV
            formation
REFERENCE   9  (residues 1 to 765)
  AUTHORS   Reider A, Barker SL, Mishra SK, Im YJ, Maldonado-Baez L, Hurley JH,
            Traub LM and Wendland B.
  TITLE     Syp1 is a conserved endocytic adaptor that contains domains
            involved in cargo selection and membrane tubulation
  JOURNAL   EMBO J 28 (20), 3103-3116 (2009)
   PUBMED   19713939
REFERENCE   10 (residues 1 to 765)
  AUTHORS   Sakaushi S, Inoue K, Zushi H, Senda-Murata K, Fukada T, Oka S and
            Sugimoto K.
  TITLE     Dynamic behavior of FCHO1 revealed by live-cell imaging microscopy:
            its possible involvement in clathrin-coated vesicle formation
  JOURNAL   Biosci Biotechnol Biochem 71 (7), 1764-1768 (2007)
   PUBMED   17617719
  REMARK    GeneRIF: Involved in clathrin-coated vesicle formation.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008761.8.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2149004,
                              SAMEA2154529 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..765
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     Protein         1..765
                     /product="F-BAR domain only protein 1 isoform l"
                     /note="FCH domain only protein 1; F-BAR domain only
                     protein 1; FCH domain only 1"
                     /calculated_mol_wt=84416
     Region          1..275
                     /region_name="Mediates membrane-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (O14526.2)"
     Region          10..270
                     /region_name="F-BAR_FCHO1"
                     /note="The F-BAR (FES-CIP4 Homology and
                     Bin/Amphiphysin/Rvs) domain of FCH domain Only 1 protein;
                     cd07674"
                     /db_xref="CDD:153358"
     Site            order(10,13..15,18..19,22,25,28..29,32..33,35..36,39..40,
                     43..44,47,50..51,54,57,61..62,65..67,71,74,78,81,134,138,
                     141..142,145,172,175..176,179,182,186,189..190,194,201,
                     204..205,208..209,211..212,215,219,222..223,226,229..230,
                     233..234,236..237,240,243..245,248..250,252..254,256..264,
                     266..270)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153358"
     Site            order(21,24,31,38,49,53,56,111,114,136,144,150,167,170)
                     /site_type="other"
                     /note="putative membrane interaction site"
                     /db_xref="CDD:153358"
     Region          267..442
                     /region_name="Mediates interaction with the adaptor
                     protein complex AP-2"
                     /note="propagated from UniProtKB/Swiss-Prot (O14526.2)"
     Region          294..352
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14526.2)"
     Site            295
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14526.2)"
     Site            347
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14526.2)"
     Site            372
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14526.2)"
     Region          535..>667
                     /region_name="AP_MHD_Cterm"
                     /note="C-terminal domain of adaptor protein (AP) complexes
                     medium mu subunits and its homologs (MHD); cl10970"
                     /db_xref="CDD:416027"
     CDS             1..765
                     /gene="FCHO1"
                     /gene_synonym="IMD76"
                     /coded_by="NM_001384404.1:436..2733"
                     /note="isoform l is encoded by transcript variant 37"
                     /db_xref="GeneID:23149"
                     /db_xref="HGNC:HGNC:29002"
                     /db_xref="MIM:613437"
ORIGIN      
        1 msyfgehfwg eknhgfevly hsvkqgpist keladfirer atieetyska maklsklasn
       61 gtpmgtfapl wevfrvssdk lalchleltr klqdlikdvl rygeeqlkth kkckeevvst
      121 ldavqvlsgv sqllpksren ylnrcmdqer lrrestsqke mdkaetktkk aaeslrrsve
      181 kynsaradfe qkmldsalrf qameethlrh mkallgsyah svedthvqig qvheefkqni
      241 envsvemllr kfaeskgtgr ekpgpldfea ysaaalqeam krlrgakafr lpglsrrere
      301 peppaavdfl epdsgtcpev deegftvrpd vtqnstaeps rfsssdsdfd deeprkfyvh
      361 ikpaparapa cspeaaaaql ratagslilp pgpggtmkrh ssrdaagkpq rprsaprtss
      421 caerlqseeq vsknlfgppl esafdhedft dlmpapadpt areglaappr rlrsrkvscp
      481 ltrsngdlsr slspsplgss aastalerps flsqtghgvs rgpspvvlgs qdalpiataf
      541 teyvhayfrg hspsclarvt geltmtfpag ivrvfsgtpp ppvlsfrlvh ttaiehfqpn
      601 adllfsdpsq sdpetkdfwl nmaaltealq rqaeqnptas yynvvllryq epggeaahle
      661 asrcvrgrrf wpplcqlgaa lraqhtqprg ctvhqrgdhs vgrglgtggq rlphvageee
      721 vchrdvpgel lnpqmllpql ytapwcwltt pcppagpwgl ppqpp
//
LOCUS       NP_001257734             425 aa            linear   PRI 29-DEC-2022
DEFINITION  synaptotagmin-6 isoform b [Homo sapiens].
ACCESSION   NP_001257734
VERSION     NP_001257734.1
DBSOURCE    REFSEQ: accession NM_001270805.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 425)
  AUTHORS   McGue M, Zhang Y, Miller MB, Basu S, Vrieze S, Hicks B, Malone S,
            Oetting WS and Iacono WG.
  TITLE     A genome-wide association study of behavioral disinhibition
  JOURNAL   Behav Genet 43 (5), 363-373 (2013)
   PUBMED   23942779
REFERENCE   2  (residues 1 to 425)
  AUTHORS   Rafiq S, Tapper W, Collins A, Khan S, Politopoulos I, Gerty S,
            Blomqvist C, Couch FJ, Nevanlinna H, Liu J and Eccles D.
  TITLE     Identification of inherited genetic variations influencing
            prognosis in early-onset breast cancer
  JOURNAL   Cancer Res 73 (6), 1883-1891 (2013)
   PUBMED   23319801
REFERENCE   3  (residues 1 to 425)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA
            and Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   4  (residues 1 to 425)
  AUTHORS   Castillo Bennett J, Roggero CM, Mancifesta FE and Mayorga LS.
  TITLE     Calcineurin-mediated dephosphorylation of synaptotagmin VI is
            necessary for acrosomal exocytosis
  JOURNAL   J Biol Chem 285 (34), 26269-26278 (2010)
   PUBMED   20551332
  REMARK    GeneRIF: synaptotagmin must be dephosphorylated at a specific
            window of time and phosphorylated synaptotagmin has an active role
            at early stages of the acrosomal exocytosis.
REFERENCE   5  (residues 1 to 425)
  AUTHORS   Dalgin GS, Drever M, Williams T, King T, DeLisi C and Liou LS.
  TITLE     Identification of novel epigenetic markers for clear cell renal
            cell carcinoma
  JOURNAL   J Urol 180 (3), 1126-1130 (2008)
   PUBMED   18639284
  REMARK    GeneRIF: SYT6 is hypermethylated in renal cell carcinoma.
REFERENCE   6  (residues 1 to 425)
  AUTHORS   Roggero CM, Tomes CN, De Blas GA, Castillo J, Michaut MA, Fukuda M
            and Mayorga LS.
  TITLE     Protein kinase C-mediated phosphorylation of the two polybasic
            regions of synaptotagmin VI regulates their function in acrosomal
            exocytosis
  JOURNAL   Dev Biol 285 (2), 422-435 (2005)
   PUBMED   16111671
  REMARK    GeneRIF: Acrosomal exocytosis is regulated through the PKC-mediated
            phosphorylation of conserved threonines in the polybasic regions of
            synaptotagmin VI.
REFERENCE   7  (residues 1 to 425)
  AUTHORS   Craxton M.
  TITLE     Genomic analysis of synaptotagmin genes
  JOURNAL   Genomics 77 (1-2), 43-49 (2001)
   PUBMED   11543631
REFERENCE   8  (residues 1 to 425)
  AUTHORS   Michaut M, De Blas G, Tomes CN, Yunes R, Fukuda M and Mayorga LS.
  TITLE     Synaptotagmin VI participates in the acrosome reaction of human
            spermatozoa
  JOURNAL   Dev Biol 235 (2), 521-529 (2001)
   PUBMED   11437455
REFERENCE   9  (residues 1 to 425)
  AUTHORS   Perin MS.
  TITLE     Mirror image motifs mediate the interaction of the COOH terminus of
            multiple synaptotagmins with the neurexins and calmodulin
  JOURNAL   Biochemistry 35 (43), 13808-13816 (1996)
   PUBMED   8901523
REFERENCE   10 (residues 1 to 425)
  AUTHORS   Li C, Ullrich B, Zhang JZ, Anderson RG, Brose N and Sudhof TC.
  TITLE     Ca(2+)-dependent and -independent activities of neural and
            non-neural synaptotagmins
  JOURNAL   Nature 375 (6532), 594-599 (1995)
   PUBMED   7791877
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162594.13, BC044948.1 and
            N50928.1.
            
            Summary: The protein encoded by this gene belongs to the
            synaptotagmin family. Synaptotagmins share a common domain
            structure that includes a transmembrane domain and a cytoplasmic
            region composed of 2 C2 domains, and are involved in
            calcium-dependent exocytosis of synaptic vesicles. This protein has
            been shown to be a key component of the secretory machinery
            involved in acrosomal exocytosis. Alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Dec
            2011].
            
            Transcript Variant: This variant (3) represents the longer
            transcript. Variants 2 and 3 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            CCDS Note: This CCDS ID represents the protein described in PMIDs:
            11437455 and 16111671. This variant is supported by AK056448.1. It
            should be noted this transcript is predicted to undergo
            nonsense-mediated mRNA decay (NMD). However, the protein is
            represented because it was detected endogenously in PMID: 11437455.
            It is likely that the majority of transcripts representing this
            variant will undergo NMD, while some low level of NMD escape may
            allow for the expression of this protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC044948.1, SRR1660805.448.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            NMD candidate :: PMID: 11437455, 16111671
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..425
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     Protein         1..425
                     /product="synaptotagmin-6 isoform b"
                     /note="synaptotagmin VI"
                     /calculated_mol_wt=48312
     Region          145..269
                     /region_name="C2A_Synaptotagmin-1-5-6-9-10"
                     /note="C2A domain first repeat present in Synaptotagmins
                     1, 5, 6, 9, and 10; cd08385"
                     /db_xref="CDD:176031"
     Site            order(175,181,233,235,241)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176031"
     Region          278..411
                     /region_name="C2B_Synaptotagmin-3-5-6-9-10"
                     /note="C2 domain second repeat present in Synaptotagmins
                     3, 5, 6, 9, and 10; cd08403"
                     /db_xref="CDD:176048"
     Site            order(307,313,337,367,369,375)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176048"
     CDS             1..425
                     /gene="SYT6"
                     /gene_synonym="sytVI"
                     /coded_by="NM_001270805.2:270..1547"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS871.1"
                     /db_xref="GeneID:148281"
                     /db_xref="HGNC:HGNC:18638"
                     /db_xref="MIM:607718"
ORIGIN      
        1 mpwrnkeass pssanpplea lqspsfrgnm adklkdpstl gfleaavkis htspdipaev
       61 qmsvkehimr htrlqrqtte passtrhtsf krhlprqmhv ssvdygnelp paaeqptsig
      121 rikpelykqk svdgedakse atkscgkinf slrydyetet livrilkafd lpakdfcgss
      181 dpyvkiyllp drkcklqtrv hrktlnptfd enfhfpvpye eladrklhls vfdfdrfsrh
      241 dmigevildn lfeasdlsre tsiwkdiqya tsesvdlgei mfslcylpta grltltvikc
      301 rnlkamditg ysdpyvkvsl lcdgrrlkkk kttikkntln pvyneaiifd ippenmdqvs
      361 llisvmdydr vghneiigvc rvgitaeglg rdhwnemlay prkpiahwhs lvevkksfke
      421 gnprl
//
LOCUS       NP_001258899             724 aa            linear   PRI 29-DEC-2022
DEFINITION  heat shock protein HSP 90-beta isoform a [Homo sapiens].
ACCESSION   NP_001258899
VERSION     NP_001258899.1
DBSOURCE    REFSEQ: accession NM_001271970.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 724)
  AUTHORS   Siebert A, Gattringer V, Weishaupt JH and Behrends C.
  TITLE     ALS-linked loss of Cyclin-F function affects HSP90
  JOURNAL   Life Sci Alliance 5 (12), e202101359 (2022)
   PUBMED   36114006
  REMARK    GeneRIF: ALS-linked loss of Cyclin-F function affects HSP90.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 724)
  AUTHORS   Zhou H, Huang X, Shi W, Xu S, Chen J, Huang K and Wang Y.
  TITLE     LncRNA RP3-326I13.1 promotes cisplatin resistance in lung
            adenocarcinoma by binding to HSP90B and upregulating MMP13
  JOURNAL   Cell Cycle 21 (13), 1391-1405 (2022)
   PUBMED   35298351
  REMARK    GeneRIF: LncRNA RP3-326I13.1 promotes cisplatin resistance in lung
            adenocarcinoma by binding to HSP90B and upregulating MMP13.
REFERENCE   3  (residues 1 to 724)
  AUTHORS   Salokas K, Liu X, Ohman T, Chowdhury I, Gawriyski L, Keskitalo S
            and Varjosalo M.
  TITLE     Physical and functional interactome atlas of human receptor
            tyrosine kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   4  (residues 1 to 724)
  AUTHORS   Zhang H, Yin X, Zhang X, Zhou M, Xu W, Wei Z, Song C, Han S and Han
            W.
  TITLE     HSP90AB1 Promotes the Proliferation, Migration, and Glycolysis of
            Head and Neck Squamous Cell Carcinoma
  JOURNAL   Technol Cancer Res Treat 21, 15330338221118202 (2022)
   PUBMED   35929142
  REMARK    GeneRIF: HSP90AB1 Promotes the Proliferation, Migration, and
            Glycolysis of Head and Neck Squamous Cell Carcinoma.
REFERENCE   5  (residues 1 to 724)
  AUTHORS   Gonzalez-Rodriguez M, Villar-Conde S, Astillero-Lopez V,
            Villanueva-Anguita P, Ubeda-Banon I, Flores-Cuadrado A,
            Martinez-Marcos A and Saiz-Sanchez D.
  TITLE     Neurodegeneration and Astrogliosis in the Human CA1 Hippocampal
            Subfield Are Related to hsp90ab1 and bag3 in Alzheimer's Disease
  JOURNAL   Int J Mol Sci 23 (1), 165 (2021)
   PUBMED   35008592
  REMARK    GeneRIF: Neurodegeneration and Astrogliosis in the Human CA1
            Hippocampal Subfield Are Related to hsp90ab1 and bag3 in
            Alzheimer's Disease.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 724)
  AUTHORS   Tang PZ, Gannon MJ, Andrew A and Miller D.
  TITLE     Evidence for oestrogenic regulation of heat shock protein
            expression in human endometrium and steroid-responsive cell lines
  JOURNAL   Eur J Endocrinol 133 (5), 598-605 (1995)
   PUBMED   7581991
REFERENCE   7  (residues 1 to 724)
  AUTHORS   Rebbe NF, Hickman WS, Ley TJ, Stafford DW and Hickman S.
  TITLE     Nucleotide sequence and regulation of a human 90-kDa heat shock
            protein gene
  JOURNAL   J Biol Chem 264 (25), 15006-15011 (1989)
   PUBMED   2768249
REFERENCE   8  (residues 1 to 724)
  AUTHORS   Lees-Miller SP and Anderson CW.
  TITLE     Two human 90-kDa heat shock proteins are phosphorylated in vivo at
            conserved serines that are phosphorylated in vitro by casein kinase
            II
  JOURNAL   J Biol Chem 264 (5), 2431-2437 (1989)
   PUBMED   2492519
REFERENCE   9  (residues 1 to 724)
  AUTHORS   Hoffmann T and Hovemann B.
  TITLE     Heat-shock proteins, Hsp84 and Hsp86, of mice and men: two related
            genes encode formerly identified tumour-specific transplantation
            antigens
  JOURNAL   Gene 74 (2), 491-501 (1988)
   PUBMED   2469626
REFERENCE   10 (residues 1 to 724)
  AUTHORS   Rebbe,N.F., Ware,J., Bertina,R.M., Modrich,P. and Stafford,D.W.
  TITLE     Nucleotide sequence of a cDNA for a member of the human 90-kDa
            heat-shock protein family
  JOURNAL   Gene 53 (2-3), 235-245 (1987)
   PUBMED   3301534
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC341882.1, BX420114.2,
            BC004928.1 and BE539681.1.
            
            Summary: This gene encodes a member of the heat shock protein 90
            family; these proteins are involved in signal transduction, protein
            folding and degradation and morphological evolution. This gene
            encodes the constitutive form of the cytosolic 90 kDa heat-shock
            protein and is thought to play a role in gastric apoptosis and
            inflammation. Alternative splicing results in multiple transcript
            variants. Pseudogenes have been identified on multiple chromosomes.
            [provided by RefSeq, Dec 2012].
            
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1. Variants 1, 2 and 3 encode the same protein
            (isoform a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3225990.1,
                                           SRR1803614.31176.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..724
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     Protein         1..724
                     /product="heat shock protein HSP 90-beta isoform a"
                     /note="heat shock 90kD protein 1, beta; heat shock protein
                     HSP 90-beta; heat shock 84 kDa; HSP90-beta; heat shock
                     protein 90 kDa; heat shock protein 90kDa alpha
                     (cytosolic), class B member 1; heat shock protein 90kDa
                     alpha family class B member 1"
                     /calculated_mol_wt=83133
     Region          2..527
                     /region_name="Interaction with TP53.
                     /evidence=ECO:0000269|PubMed:15358771"
                     /note="propagated from UniProtKB/Swiss-Prot (P08238.4)"
     Region          2..214
                     /region_name="Interaction with BIRC2.
                     /evidence=ECO:0000269|PubMed:25486457"
                     /note="propagated from UniProtKB/Swiss-Prot (P08238.4)"
     Region          9..231
                     /region_name="Interaction with NR3C1.
                     /evidence=ECO:0000250|UniProtKB:P11499"
                     /note="propagated from UniProtKB/Swiss-Prot (P08238.4)"
     Region          14..724
                     /region_name="PRK14083"
                     /note="HSP90 family protein; Provisional; cl42520"
                     /db_xref="CDD:455865"
     Site            126..127
                     /site_type="other"
                     /note="Cleaved under oxidative stress.
                     /evidence=ECO:0000269|PubMed:22848402; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Region          215..552
                     /region_name="Interaction with AHSA1.
                     /evidence=ECO:0000269|PubMed:25486457"
                     /note="propagated from UniProtKB/Swiss-Prot (P08238.4)"
     Region          222..270
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P08238.4)"
     Site            226
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:18318008, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P08238.4)"
     Site            255
                     /site_type="phosphorylation"
                     /note="Phosphoserine. /evidence=ECO:0000269|Ref.12,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P08238.4)"
     Site            261
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P11499; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Region          264..608
                     /region_name="Interaction with NR3C1.
                     /evidence=ECO:0000250|UniProtKB:P11499"
                     /note="propagated from UniProtKB/Swiss-Prot (P08238.4)"
     Site            297
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Site            301
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by SRC.
                     /evidence=ECO:0000269|PubMed:23585225; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Site            305
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P11499; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Site            307
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Site            434
                     /site_type="glycosylation"
                     /note="O-linked (GlcNAc) serine. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P08238.4)"
     Site            435
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Site            445
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Site            452
                     /site_type="glycosylation"
                     /note="O-linked (GlcNAc) serine. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P08238.4)"
     Site            479
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Site            481
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Site            484
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P11499; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Site            531
                     /site_type="methylation"
                     /note="N6-methylated lysine, alternate.
                     /evidence=ECO:0000269|PubMed:24880080; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Site            574
                     /site_type="methylation"
                     /note="N6-methylated lysine.
                     /evidence=ECO:0000269|PubMed:24880080; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Region          620..723
                     /region_name="Interaction with NR1D1.
                     /evidence=ECO:0000250|UniProtKB:P11499"
                     /note="propagated from UniProtKB/Swiss-Prot (P08238.4)"
     Site            624
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P11499; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Site            669
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Region          696..724
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P08238.4)"
     Site            718
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PLK2 and PLK3.
                     /evidence=ECO:0000269|PubMed:22828320; propagated from
                     UniProtKB/Swiss-Prot (P08238.4)"
     Region          720..724
                     /region_name="TPR repeat-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (P08238.4)"
     CDS             1..724
                     /gene="HSP90AB1"
                     /gene_synonym="D6S182; HSP84; HSP90B; HSPC2; HSPCB"
                     /coded_by="NM_001271970.2:152..2326"
                     /note="isoform a is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS4909.1"
                     /db_xref="GeneID:3326"
                     /db_xref="HGNC:HGNC:5258"
                     /db_xref="MIM:140572"
ORIGIN      
        1 mpeevhhgee evetfafqae iaqlmsliin tfysnkeifl relisnasda ldkiryeslt
       61 dpskldsgke lkidiipnpq ertltlvdtg igmtkadlin nlgtiaksgt kafmealqag
      121 adismigqfg vgfysaylva ekvvvitkhn ddeqyawess aggsftvrad hgepigrgtk
      181 vilhlkedqt eyleerrvke vvkkhsqfig ypitlyleke rekeisddea eeekgekeee
      241 dkddeekpki edvgsdeedd sgkdkkkktk kikekyidqe elnktkpiwt rnpdditqee
      301 ygefyksltn dwedhlavkh fsvegqlefr allfiprrap fdlfenkkkk nniklyvrrv
      361 fimdscdeli peylnfirgv vdsedlplni sremlqqski lkvirknivk kclelfsela
      421 edkenykkfy eafsknlklg ihedstnrrr lsellryhts qsgdemtsls eyvsrmketq
      481 ksiyyitges keqvansafv ervrkrgfev vymtepidey cvqqlkefdg kslvsvtkeg
      541 lelpedeeek kkmeeskakf enlcklmkei ldkkvekvti snrlvsspcc ivtstygwta
      601 nmerimkaqa lrdnstmgym makkhleinp dhpivetlrq kaeadkndka vkdlvvllfe
      661 tallssgfsl edpqthsnri yrmiklglgi dedevaaeep naavpdeipp legdedasrm
      721 eevd
//
LOCUS       NP_001374926            1059 aa            linear   PRI 31-DEC-2022
DEFINITION  large proline-rich protein BAG6 isoform 21 [Homo sapiens].
ACCESSION   NP_001374926
VERSION     NP_001374926.1
DBSOURCE    REFSEQ: accession NM_001387997.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1059)
  AUTHORS   Roboti P, Lawless C and High S.
  TITLE     Mitochondrial antiviral-signalling protein is a client of the BAG6
            protein quality control complex
  JOURNAL   J Cell Sci 135 (9) (2022)
   PUBMED   35543156
  REMARK    GeneRIF: Mitochondrial antiviral-signalling protein is a client of
            the BAG6 protein quality control complex.
REFERENCE   2  (residues 1 to 1059)
  AUTHORS   Koike K, Masuda T, Sato K, Fujii A, Wakiyama H, Tobo T, Takahashi
            J, Motomura Y, Nakano T, Saito H, Matsumoto Y, Otsu H, Takeishi K,
            Yonemura Y, Mimori K and Nakagawa T.
  TITLE     GET4 is a novel driver gene in colorectal cancer that regulates the
            localization of BAG6, a nucleocytoplasmic shuttling protein
  JOURNAL   Cancer Sci 113 (1), 156-169 (2022)
   PUBMED   34704338
  REMARK    GeneRIF: GET4 is a novel driver gene in colorectal cancer that
            regulates the localization of BAG6, a nucleocytoplasmic shuttling
            protein.
REFERENCE   3  (residues 1 to 1059)
  AUTHORS   Ponath V, Hoffmann N, Bergmann L, Mader C, Alashkar Alhamwe B,
            Preusser C and Pogge von Strandmann E.
  TITLE     Secreted Ligands of the NK Cell Receptor NKp30: B7-H6 Is in
            Contrast to BAG6 Only Marginally Released via Extracellular
            Vesicles
  JOURNAL   Int J Mol Sci 22 (4), 2189 (2021)
   PUBMED   33671836
  REMARK    GeneRIF: Secreted Ligands of the NK Cell Receptor NKp30: B7-H6 Is
            in Contrast to BAG6 Only Marginally Released via Extracellular
            Vesicles.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1059)
  AUTHORS   Yuan X, Guo M, Li Y, Han Y and Li P.
  TITLE     Association Between eNOS, MMP-9, BAG-6 Gene Polymorphisms and Risk
            of Hypertensive Disorders of Pregnancy in the Northern Chinese
            Population
  JOURNAL   DNA Cell Biol 40 (2), 393-404 (2021)
   PUBMED   33539267
  REMARK    GeneRIF: Association Between eNOS, MMP-9, BAG-6 Gene Polymorphisms
            and Risk of Hypertensive Disorders of Pregnancy in the Northern
            Chinese Population.
REFERENCE   5  (residues 1 to 1059)
  AUTHORS   Ragimbeau R, El Kebriti L, Sebti S, Fourgous E, Boulahtouf A, Arena
            G, Espert L, Turtoi A, Gongora C, Houede N and Pattingre S.
  TITLE     BAG6 promotes PINK1 signaling pathway and is essential for
            mitophagy
  JOURNAL   FASEB J 35 (2), e21361 (2021)
   PUBMED   33522017
  REMARK    GeneRIF: BAG6 promotes PINK1 signaling pathway and is essential for
            mitophagy.
REFERENCE   6  (residues 1 to 1059)
  AUTHORS   Ozaki T, Hanaoka E, Naka M, Nakagawara A and Sakiyama S.
  TITLE     Cloning and characterization of rat BAT3 cDNA
  JOURNAL   DNA Cell Biol 18 (6), 503-512 (1999)
   PUBMED   10390159
REFERENCE   7  (residues 1 to 1059)
  AUTHORS   Cross SJ, Tonks S, Trowsdale J and Campbell RD.
  TITLE     Novel detection of restriction fragment length polymorphisms in the
            human major histocompatibility complex
  JOURNAL   Immunogenetics 34 (6), 376-384 (1991)
   PUBMED   1684176
REFERENCE   8  (residues 1 to 1059)
  AUTHORS   Banerji J, Sands J, Strominger JL and Spies T.
  TITLE     A gene pair from the human major histocompatibility complex encodes
            large proline-rich proteins with multiple repeated motifs and a
            single ubiquitin-like domain
  JOURNAL   Proc Natl Acad Sci U S A 87 (6), 2374-2378 (1990)
   PUBMED   2156268
REFERENCE   9  (residues 1 to 1059)
  AUTHORS   Spies T, Bresnahan M and Strominger JL.
  TITLE     Human major histocompatibility complex contains a minimum of 19
            genes between the complement cluster and HLA-B
  JOURNAL   Proc Natl Acad Sci U S A 86 (22), 8955-8958 (1989)
   PUBMED   2813433
REFERENCE   10 (residues 1 to 1059)
  AUTHORS   Spies T, Blanck G, Bresnahan M, Sands J and Strominger JL.
  TITLE     A new cluster of genes within the human major histocompatibility
            complex
  JOURNAL   Science 243 (4888), 214-217 (1989)
   PUBMED   2911734
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL662801.7.
            
            Summary: This gene was first characterized as part of a cluster of
            genes located within the human major histocompatibility complex
            class III region. This gene encodes a nuclear protein that is
            cleaved by caspase 3 and is implicated in the control of apoptosis.
            In addition, the protein forms a complex with E1A binding protein
            p300 and is required for the acetylation of p53 in response to DNA
            damage. Multiple transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.1767282.1,
                                           SRR14038191.3832912.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1059
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     Protein         1..1059
                     /product="large proline-rich protein BAG6 isoform 21"
                     /note="scythe; large proline-rich protein BAT3; large
                     proline-rich protein BAG6; protein G3; HLA-B-associated
                     transcript 3; protein Scythe; BAG family molecular
                     chaperone regulator 6; BCL2 associated athanogene 6"
                     /calculated_mol_wt=111432
     Region          17..87
                     /region_name="Ubl_BAG6"
                     /note="ubiquitin-like (Ubl) domain found in
                     BCL2-associated athanogene 6 (BAG6) and similar proteins;
                     cd01809"
                     /db_xref="CDD:340507"
     Site            order(22..25,58,60,62..65,83..87)
                     /site_type="other"
                     /note="ZF interaction site [polypeptide binding]"
                     /db_xref="CDD:340507"
     Region          252..368
                     /region_name="DUF3538"
                     /note="Domain of unknown function (DUF3538); pfam12057"
                     /db_xref="CDD:432295"
     Region          <881..1059
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     CDS             1..1059
                     /gene="BAG6"
                     /gene_synonym="BAG-6; BAT3; D6S52E; G3"
                     /coded_by="NM_001387997.1:158..3337"
                     /note="isoform 21 is encoded by transcript variant 37"
                     /db_xref="GeneID:7917"
                     /db_xref="HGNC:HGNC:13919"
                     /db_xref="MIM:142590"
ORIGIN      
        1 mepndststa veepdslevl vktldsqtrt fivgaqmnvk efkehiaasv sipsekqrli
       61 yqgrvlqddk klqeynvggk vihlverapp qthlpsgass gtgsasathg ggsppgtrgp
      121 gasvhdrnan syvmvgtfnl pseprvrlvm aqhmirdiqt llsrmecrgg pqpqhsqppp
      181 qppavtpepv alssqtsepv eseapprepm eaeeveerap aqnpeltpgp apagptpape
      241 tnapnhpspa eyvevlqelq rlesrlqpfl qryyevlgaa attdynnnhe greedqrlin
      301 lvgeslrllg ntfvalsdlr cnlactpprh lhvvrpmshy ttpmvlqqaa ipiqinvgtt
      361 vtmtgngtrp pptpnaeapp pgpgqassva psstnvessa egapppgpap ppatshprvi
      421 rishqsvepv vmmhmniqds gtqpggvpsa ptgplgppgh gqtlgqqvpg fptaptrvvi
      481 arptppqarp shpggppvsg tlqgaglgtn aslaqmvsgl vgqllmqpvl vaqgtpgmap
      541 ppapatasas agttntatta gpapggpaqp pptpqpsmad lqfsqllgnl lgpagpgagg
      601 sgvasptitv ampgvpaflq gmtdflqatq tapppppppp ppppapeqqt mpppgspsgg
      661 agspgglgle slspefftsv vqgvlssllg slgaragsse siaafiqrls gssnifepga
      721 dgalgffgal lsllcqnfsm vdvvmllhgh fqplqrlqpq lrsffhqhyl ggqeptpsni
      781 rmathtlitg leeyvresfs lvqvqpgvdi irtnleflqe qfnsiaahvl hctdsgfgar
      841 llelcnqglf eclalnlhcl ggqqmelaav ingrirrmsr gvnpslvswl ttmmglrlqv
      901 vlehmpvgpd ailryvrrvg dppqplpeep mevqgaeras pepqrenasp apgttaeeam
      961 srgpppapeg gsrdeqdgas aetepwaaav ppewvpiiqq diqsqrkvkp qpplsdayls
     1021 gmpakrrklr sdiqkrlqed pnyspqrfpn aqrafaddp
//
LOCUS       NP_001392596            1487 aa            linear   PRI 31-DEC-2022
DEFINITION  neuroblastoma breakpoint family member 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001392596
VERSION     NP_001392596.1
DBSOURCE    REFSEQ: accession NM_001405667.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1487)
  AUTHORS   Li L, Chen S, Tang Y, Wu J, He Y and Qiu L.
  TITLE     Oncogene or tumor suppressor gene: An integrated pan-cancer
            analysis of NBPF1
  JOURNAL   Front Endocrinol (Lausanne) 13, 950326 (2022)
   PUBMED   36060966
  REMARK    GeneRIF: Oncogene or tumor suppressor gene: An integrated
            pan-cancer analysis of NBPF1.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1487)
  AUTHORS   Zhang J, Zhao Y, Wang J, Sneh T, Yu Q, Zhou X and Gong C.
  TITLE     NBPF1 independently determine the risk stratification and prognosis
            of patients with neuroblastoma
  JOURNAL   Genomics 112 (6), 3951-3957 (2020)
   PUBMED   32619576
  REMARK    GeneRIF: NBPF1 independently determine the risk stratification and
            prognosis of patients with neuroblastoma.
REFERENCE   3  (residues 1 to 1487)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 1487)
  AUTHORS   Gao Y, Zhu H and Mao Q.
  TITLE     Effects of neuroblastoma breakpoint family member 1 (NBPF1) gene on
            growth and Akt-p53-Cyclin D pathway in cutaneous squamous carcinoma
            cells
  JOURNAL   Neoplasma 66 (4), 584-592 (2019)
   PUBMED   31058534
  REMARK    GeneRIF: Upregulation of NBPF1 might promote apoptosis of A431
            squamous carcinoma cells and block cell cycle via inhibiting the
            activation of Akt-p53-Cyclin signaling pathway
REFERENCE   5  (residues 1 to 1487)
  AUTHORS   Qin Y, Tang X and Liu M.
  TITLE     Tumor-Suppressor Gene NBPF1 Inhibits Invasion and PI3K/mTOR
            Signaling in Cervical Cancer Cells
  JOURNAL   Oncol Res 23 (1-2), 13-20 (2016)
   PUBMED   26802646
  REMARK    GeneRIF: NBPF1 overexpression may be a suppressor for cervical
            cancer via affecting cell invasion and apoptosis through regulating
            PI3K/mTOR signaling pathway.
REFERENCE   6  (residues 1 to 1487)
  AUTHORS   Andries V, Vandepoele K, Staes K, Berx G, Bogaert P, Van Isterdael
            G, Ginneberge D, Parthoens E, Vandenbussche J, Gevaert K and van
            Roy F.
  TITLE     NBPF1, a tumor suppressor candidate in neuroblastoma, exerts growth
            inhibitory effects by inducing a G1 cell cycle arrest
  JOURNAL   BMC Cancer 15, 391 (2015)
   PUBMED   25958384
  REMARK    GeneRIF: We demonstrated that NBPF1 exerts different tumor
            suppressive effects, depending on the cell line analyzed, and
            provide new clues into the molecular mechanism of the enigmatic
            NBPF proteins.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 1487)
  AUTHORS   O'Bleness MS, Dickens CM, Dumas LJ, Kehrer-Sawatzki H, Wyckoff GJ
            and Sikela JM.
  TITLE     Evolutionary history and genome organization of DUF1220 protein
            domains
  JOURNAL   G3 (Bethesda) 2 (9), 977-986 (2012)
   PUBMED   22973535
REFERENCE   8  (residues 1 to 1487)
  AUTHORS   Vandepoele K, Staes K, Andries V and van Roy F.
  TITLE     Chibby interacts with NBPF1 and clusterin, two candidate tumor
            suppressors linked to neuroblastoma
  JOURNAL   Exp Cell Res 316 (7), 1225-1233 (2010)
   PUBMED   20096688
  REMARK    GeneRIF: Chibby and clusterin were co-immunoprecipitated with
            NBPF1.
REFERENCE   9  (residues 1 to 1487)
  AUTHORS   Vandepoele K, Van Roy N, Staes K, Speleman F and van Roy F.
  TITLE     A novel gene family NBPF: intricate structure generated by gene
            duplications during primate evolution
  JOURNAL   Mol Biol Evol 22 (11), 2265-2274 (2005)
   PUBMED   16079250
REFERENCE   10 (residues 1 to 1487)
  AUTHORS   Laureys G, Speleman F, Versteeg R, van der Drift P, Chan A, Leroy
            J, Francke U, Opdenakker G and Van Roy N.
  TITLE     Constitutional translocation t(1;17)(p36.31-p36.13;q11.2-q12.1) in
            a neuroblastoma patient. Establishment of somatic cell hybrids and
            identification of PND/A12M2 on chromosome 1 and NF1/SCYA7 on
            chromosome 17 as breakpoint flanking single copy markers
  JOURNAL   Oncogene 10 (6), 1087-1093 (1995)
   PUBMED   7700633
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC277909.1 and AC254635.1.
            
            Summary: This gene is a member of the neuroblastoma breakpoint
            family (NBPF) which consists of dozens of recently duplicated genes
            primarily located in segmental duplications on human chromosome 1.
            This gene family has experienced its greatest expansion within the
            human lineage and has expanded, to a lesser extent, among primates
            in general. Members of this gene family are characterized by
            tandemly repeated copies of DUF1220 protein domains. Gene copy
            number variations in the human chromosomal region 1q21.1, where
            most DUF1220 domains are located, have been implicated in a number
            of developmental and neurogenetic diseases such as microcephaly,
            macrocephaly, autism, schizophrenia, cognitive disability,
            congenital heart disease, neuroblastoma, and congenital kidney and
            urinary tract anomalies. Altered expression of some gene family
            members is associated with several types of cancer. This gene
            family contains numerous pseudogenes. [provided by RefSeq, Apr
            2013].
FEATURES             Location/Qualifiers
     source          1..1487
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     Protein         1..1487
                     /product="neuroblastoma breakpoint family member 1 isoform
                     2"
                     /note="neuroblastoma breakpoint family member 1"
                     /calculated_mol_wt=170620
     Region          180..240
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          <282..>672
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          451..511
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          719..782
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          835..895
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          904..971
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          979..1046
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          1054..1121
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          1155..1216
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          1224..1291
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          1299..1366
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          1400..1461
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     CDS             1..1487
                     /gene="NBPF1"
                     /gene_synonym="AB13; AB14; AB23; AD2; NBG; NBPF"
                     /coded_by="NM_001405667.2:1156..5619"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:55672"
                     /db_xref="HGNC:HGNC:26088"
                     /db_xref="MIM:610501"
ORIGIN      
        1 mvvsagpwss ekaetnilei neklrpqlae kkqqfrnlke kcfvtqlagf lanrqkkyky
       61 eeckdlikfm lrnerqfkee klaeqlkqae elrqykvlvh sqereltqlr eklregrdas
      121 rslnqhlqal ltpdkpdksq gqdlqeqlae gcrlaqqlfq klspendede dedvqveeae
      181 kvlessapre vqkaeeskvp edsleecait csnshgpcds nqphkninit feedkvnsal
      241 vvdresshde cqdavnilpv pgptssatnv smvvsagplf sekaemnile ineklhpqla
      301 eknqqfrnlk ekcfvtqlac flanqqnkyk yeeckdliks mlrkerqfke eklaeqlkqa
      361 eelrqykvlv hsqerelthl reklregrda srslnqhlqa lltpdkpdks qgqdlqeqla
      421 egcrlaqqlf qklspended ededvqveea ekvlessapr evqkaeeskv pedsleecai
      481 tcsnshspcd snqphknini tfeedkvnst lvvdresshd ecqdavnilp vpgptssatn
      541 vsmvvsagpl ssekaemnil eineklhpql aekkqqfrnl kekcfvtqla cflanqqnky
      601 kyeeckdlik smlrnerqfk eeklaeqlkq aeelrqykvl vhsqereltq lreklregrd
      661 asrslnqhlq alltpdepdk sqgqdlqeql aegcrlaqhl vqklspendn dddedvqvev
      721 aekvqessap rempkaeeke vpedsleeca itcsnshgpy dsnqphrktk itfeedkvds
      781 tligssshve wedavhiipe nesddeeeee kgpvsprgmd eagnhhsqqt iartksqvph
      841 vlthrnlqes eeeevpqesw degystlsip pemlasyqsy sgtfhsleeq qvcmavdigg
      901 hrwdqvkked qeatgprlsr elldekgpev lqdsldrcys tpsgyleltd scqpyrsafy
      961 ileqqrvgwa ldmdeiekyq eveedqdpsc prlsrellde kepevlqdsl drcystpsgy
     1021 lelpdlgqpy rsavysleeq ylglaldvdr ikkdqeeeed qgppcprlsr elleavepev
     1081 lqdsldrcys tpsscleqpd sclpygssfy aleekhvgfs ldvgeiekkg kgkkrrgrrs
     1141 tkkrrrrgrk egeedqnppc prlsrellde kgpevlqdsl drcystpsgy leltdscqpy
     1201 rsafyileqq rvgwaldmde iekyqeveed qdpscprlsr elldekepev lqdsldrcys
     1261 tpsgylelpd lgqpyrsavy sleeqylgla ldvdrikkdq eeeedqgppc prlsrellea
     1321 vepevlqdsl drcystpssc leqpdsclpy gssfyaleek hvgfsldvge iekkgkgkkr
     1381 rgrrstkkrr rrgrkegeed qnppcprlsg vlmeveepev lqdsldrcys tpsmffelpd
     1441 sfqhyrsvfy sfeeqhisfa ldvdnrfltl mgtslhlvfq mgvifpq
//
LOCUS       NP_001387143            1215 aa            linear   PRI 01-JAN-2023
DEFINITION  protein transport protein Sec31A isoform 25 [Homo sapiens].
ACCESSION   NP_001387143
VERSION     NP_001387143.1
DBSOURCE    REFSEQ: accession NM_001400214.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1215)
  AUTHORS   Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman
            EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R,
            Abdu U, Flusser H and Birk OS.
  TITLE     SEC31A mutation affects ER homeostasis, causing a neurological
            syndrome
  JOURNAL   J Med Genet 56 (3), 139-148 (2019)
   PUBMED   30464055
  REMARK    GeneRIF: We demonstrate through human and Drosophila genetic and in
            vitro molecular studies, that a severe neurological syndrome is
            caused by a null mutation in SEC31A, reducing cell viability
            through enhanced ER-stress response, in line with SEC31A's role in
            the COP-II complex.
REFERENCE   2  (residues 1 to 1215)
  AUTHORS   Kawaguchi K, Endo A, Fukushima T, Madoka Y, Tanaka T and Komada M.
  TITLE     Ubiquitin-specific protease 8 deubiquitinates Sec31A and decreases
            large COPII carriers and collagen IV secretion
  JOURNAL   Biochem Biophys Res Commun 499 (3), 635-641 (2018)
   PUBMED   29604273
  REMARK    GeneRIF: USP8 deubiquitinates Sec31A and inhibits the formation of
            large COPII carriers, thereby suppressing collagen IV secretion.
REFERENCE   3  (residues 1 to 1215)
  AUTHORS   Maeda M, Katada T and Saito K.
  TITLE     TANGO1 recruits Sec16 to coordinately organize ER exit sites for
            efficient secretion
  JOURNAL   J Cell Biol 216 (6), 1731-1743 (2017)
   PUBMED   28442536
REFERENCE   4  (residues 1 to 1215)
  AUTHORS   McGourty CA, Akopian D, Walsh C, Gorur A, Werner A, Schekman R,
            Bautista D and Rape M.
  TITLE     Regulation of the CUL3 Ubiquitin Ligase by a Calcium-Dependent
            Co-adaptor
  JOURNAL   Cell 167 (2), 525-538 (2016)
   PUBMED   27716508
REFERENCE   5  (residues 1 to 1215)
  AUTHORS   Jin L, Pahuja KB, Wickliffe KE, Gorur A, Baumgartel C, Schekman R
            and Rape M.
  TITLE     Ubiquitin-dependent regulation of COPII coat size and function
  JOURNAL   Nature 482 (7386), 495-500 (2012)
   PUBMED   22358839
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1215)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human RPE/choroid for the
            NEIBank Project: over 6000 non-redundant transcripts, novel genes
            and splice variants
  JOURNAL   Mol Vis 8, 205-220 (2002)
   PUBMED   12107410
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 1215)
  AUTHORS   Kim JH, Hong JA, Pih KT and Hwang I.
  TITLE     Identification and isolation of differentially expressed genes in
            osmotically stressed human oral keratinocytes
  JOURNAL   Arch Oral Biol 46 (4), 335-341 (2001)
   PUBMED   11269867
REFERENCE   8  (residues 1 to 1215)
  AUTHORS   Kirchhausen T.
  TITLE     Three ways to make a vesicle
  JOURNAL   Nat Rev Mol Cell Biol 1 (3), 187-198 (2000)
   PUBMED   11252894
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol 2001 Mar;2(3):216]
REFERENCE   9  (residues 1 to 1215)
  AUTHORS   Tang BL, Zhang T, Low DY, Wong ET, Horstmann H and Hong W.
  TITLE     Mammalian homologues of yeast sec31p. An ubiquitously expressed
            form is localized to endoplasmic reticulum (ER) exit sites and is
            essential for ER-Golgi transport
  JOURNAL   J Biol Chem 275 (18), 13597-13604 (2000)
   PUBMED   10788476
REFERENCE   10 (residues 1 to 1215)
  AUTHORS   Lippincott-Schwartz J, Roberts TH and Hirschberg K.
  TITLE     Secretory protein trafficking and organelle dynamics in living
            cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021105.13 and AC108469.5.
            
            Summary: The protein encoded by this gene shares similarity with
            the yeast Sec31 protein, and is a component of the outer layer of
            the coat protein complex II (COPII). The encoded protein is
            involved in vesicle budding from the endoplasmic reticulum (ER) and
            contains multiple WD repeats near the N-terminus and a proline-rich
            region in the C-terminal half. It associates with the protein
            encoded by the SEC13 homolog, nuclear pore and COPII coat complex
            component (SEC13), and is required for ER-Golgi transport.
            Monoubiquitylation of this protein by CUL3-KLHL12 was found to
            regulate the size of COPII coats to accommodate unusually shaped
            cargo. Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Dec 2015].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1590683.1,
                                           SRR14038195.2828586.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1215
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.22"
     Protein         1..1215
                     /product="protein transport protein Sec31A isoform 25"
                     /note="yeast Sec31p homolog; protein transport protein
                     Sec31A; web1-like protein; SEC31-related protein A;
                     SEC31-like protein 1; SEC31 homolog A, COPII coating
                     complex component"
                     /calculated_mol_wt=132097
     Region          65..114
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <84..327
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(86,90,96..97,112,116,134,139,145..146,159,180,185,
                     191..192,204..205,226,230,239..240,253..254,272,277,
                     283..284,296..297,315,320,326..327)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          120..157
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          167..203
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          209..252
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          258..297
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          301..326
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <568..>691
                     /region_name="ACE1-Sec16-like"
                     /note="Ancestral coatomer element 1 (ACE1) of COPII coat
                     complex assembly protein Sec16; cl14807"
                     /db_xref="CDD:449359"
     Site            order(569..573,575,577,588,590,591..592,594..595,599,605,
                     613,625,628,653..654)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:187750"
     Region          <794..>1093
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     CDS             1..1215
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /coded_by="NM_001400214.1:105..3752"
                     /note="isoform 25 is encoded by transcript variant 48"
                     /db_xref="GeneID:22872"
                     /db_xref="HGNC:HGNC:17052"
                     /db_xref="MIM:610257"
ORIGIN      
        1 mlgesderct nagsgcrrss pgtsaqqlda tfstnaslei feldlsdpsl dmkscatfss
       61 shryhkliwg pykmdskgdv sgvliaggen gniilydpsk iiagdkevvi aqndkhtgpv
      121 raldvnifqt nlvasganes eiyiwdlnnf atpmtpgakt qppediscia wnrqvqhila
      181 saspsgratv wdlrknepii kvsdhsnrmh csglawhpdv atqmvlased drlpviqmwd
      241 lrfassplrv lenhargila iawsmadpel llscgkdaki lcsnpntgev lyelptntqw
      301 cfdiqwcprn pavlsaasfd grisvysimg gstdglrqkq vdklsssfgn ldpfgtgqpl
      361 pplqipqqta qhsivlplkk ppkwirrpvg asfsfggklv tfenvrmpsh qgaeqqqqqh
      421 hvfisqvvte keflsrsdql qqavqsqgfi nycqkkidas qtefeknvws flkvnfedds
      481 rgkylellgy rkedlgkkia lalnkvdgan valkdsdqva qsdgeespaa eeqllgehik
      541 eekeeseflp ssggtfnisv sgdidglitq alltgnfesa vdlclhdnrm adaiilaiag
      601 gqellartqk kyfaksqski trlitavvmk nwkeivescd lknwrealaa vltyakpdef
      661 salcdllgtr lenegdsllq tqaclcyica gnveklvacw tkaqdgshpl slqdliekvv
      721 ilrkavqltq amdtstvgvl laakmsqyan llaaqgsiaa alaflpdntn qpnimqlrdr
      781 lcraqgepva ghespkipye kqqlpkgrpg pvaghhqmpr vqtqqyyphg enppppgfim
      841 hgnvnpnaag qlptspghmh tqvppypqpq pyqpaqpypf gtggsamyrp qqpvapptsn
      901 aypntpyiss assytgqsql yaaqhqassp tsspatsfpp ppssgasfqh ggpgappsss
      961 ayalppgttg tlpaaselpa sqrtgpqngw ndppalnrvp kkkkmpenfm ppvpitspim
     1021 nplgdpqsqm lqqqpsapvp lssqssfpqp hlpggqpfhg vqqplgqtgm ppsfskpnie
     1081 gapgapignt fqhvqslptk kitkkpipde hlilkttfed liqrclssat dpqtkrkldd
     1141 askrleflyd klreqtlspt itsglhniar sietrnyseg ltmhthivst snfsetsafm
     1201 pvlkvvltqa nklgv
//
LOCUS       NP_115736                282 aa            linear   PRI 22-JAN-2023
DEFINITION  acyl-CoA-binding domain-containing protein 6 [Homo sapiens].
ACCESSION   NP_115736
VERSION     NP_115736.1
DBSOURCE    REFSEQ: accession NM_032360.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 282)
  AUTHORS   Soupene E and Kuypers FA.
  TITLE     Dual Role of ACBD6 in the Acylation Remodeling of Lipids and
            Proteins
  JOURNAL   Biomolecules 12 (12), 1726 (2022)
   PUBMED   36551154
  REMARK    GeneRIF: Dual Role of ACBD6 in the Acylation Remodeling of Lipids
            and Proteins.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 282)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 282)
  AUTHORS   Soupene E, Schatz UA, Rudnik-Schoneborn S and Kuypers FA.
  TITLE     Requirement of the acyl-CoA carrier ACBD6 in myristoylation of
            proteins: Activation by ligand binding and protein interaction
  JOURNAL   PLoS One 15 (2), e0229718 (2020)
   PUBMED   32108178
  REMARK    GeneRIF: The acyl-CoA binding domain (ACB) and the ankyrin-repeat
            motifs (ANK) of ACBD6 can perform their functions independently.
            Interaction of ANK with NMT2 was necessary and sufficient to
            provide protection.
            Erratum:[PLoS One. 2022 Apr 21;17(4):e0267678. PMID: 35446914]
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 282)
  AUTHORS   Soupene E and Kuypers FA.
  TITLE     ACBD6 protein controls acyl chain availability and specificity of
            the N-myristoylation modification of proteins
  JOURNAL   J Lipid Res 60 (3), 624-635 (2019)
   PUBMED   30642881
  REMARK    GeneRIF: ACBD6 proteins promote N-myristoylation in mammalian cells
REFERENCE   5  (residues 1 to 282)
  AUTHORS   Dong L, Li H, Zhang S and Su L.
  TITLE     Identification of genes related to consecutive trauma-induced
            sepsis via gene expression profiling analysis
  JOURNAL   Medicine (Baltimore) 97 (15), e0362 (2018)
   PUBMED   29642183
  REMARK    GeneRIF: ACBD6 gene, related to acyl-CoA binding, might play
            momentous roles in the initiation and development of consecutive
            Trauma-Induced Sepsis.
REFERENCE   6  (residues 1 to 282)
  AUTHORS   Soupene E, Kao J, Cheng DH, Wang D, Greninger AL, Knudsen GM,
            DeRisi JL and Kuypers FA.
  TITLE     Association of NMT2 with the acyl-CoA carrier ACBD6 protects the
            N-myristoyltransferase reaction from palmitoyl-CoA
  JOURNAL   J Lipid Res 57 (2), 288-298 (2016)
   PUBMED   26621918
  REMARK    GeneRIF: ligand binding properties of the NMT/ACBD6 complex can
            explain how the NMT reaction can proceed in the presence of the
            very abundant competitive substrate, C(16)-CoA.
REFERENCE   7  (residues 1 to 282)
  AUTHORS   Soupene E and Kuypers FA.
  TITLE     Ligand binding to the ACBD6 protein regulates the acyl-CoA
            transferase reactions in membranes
  JOURNAL   J Lipid Res 56 (10), 1961-1971 (2015)
   PUBMED   26290611
  REMARK    GeneRIF: Findings provide evidence that the binding properties of
            ACBD6 are adapted to prevent its constant saturation by the very
            abundant C16:0-CoA and protect membrane systems.
REFERENCE   8  (residues 1 to 282)
  AUTHORS   Soupene E, Serikov V and Kuypers FA.
  TITLE     Characterization of an acyl-coenzyme A binding protein
            predominantly expressed in human primitive progenitor cells
  JOURNAL   J Lipid Res 49 (5), 1103-1112 (2008)
   PUBMED   18268358
  REMARK    GeneRIF: ACBD6 is a modular protein that carries an acyl-CoA
            binding domain at its N terminus and two ankyrin motifs at its C
            terminus.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BU170874.1, AK314112.1 and AA085012.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC006505.2, AK314112.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367595.4/ ENSP00000356567.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..282
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.2-q25.3"
     Protein         1..282
                     /product="acyl-CoA-binding domain-containing protein 6"
                     /note="acyl-Coenzyme A binding domain containing 6"
                     /calculated_mol_wt=31020
     Region          1..31
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BR61.1)"
     Region          43..118
                     /region_name="ACBP"
                     /note="Acyl CoA binding protein; pfam00887"
                     /db_xref="CDD:425931"
     Site            order(50,53..54,56,59..60,62,65..66,68..69,72..73,90..91,
                     94..95,114)
                     /site_type="other"
                     /note="acyl-CoA binding pocket [chemical binding]"
                     /db_xref="CDD:238248"
     Site            order(54,69,72..73,95,114)
                     /site_type="other"
                     /note="CoA binding site [chemical binding]"
                     /db_xref="CDD:238248"
     Site            106
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BR61.1)"
     Region          166..255
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          191..222
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          191..220
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BR61.1)"
     Region          224..255
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          224..253
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BR61.1)"
     CDS             1..282
                     /gene="ACBD6"
                     /coded_by="NM_032360.4:312..1160"
                     /db_xref="CCDS:CCDS1339.1"
                     /db_xref="GeneID:84320"
                     /db_xref="HGNC:HGNC:23339"
                     /db_xref="MIM:616352"
ORIGIN      
        1 massflpaga itgdsggels sgddsgevef phspeieets claelfekaa ahlqgliqva
       61 sreqllylya rykqvkvgnc ntpkpsffdf egkqkweawk algdsspsqa mqeyiavvkk
      121 ldpgwnpqip ekkgkeantg fggpvissly heetireedk nifdycrenn idhitkaiks
      181 knvdvnvkde egrallhwac drghkelvtv llqhradinc qdnegqtalh yasacefldi
      241 velllqsgad ptlrdqdgcl peevtgcktv slvlqrhttg ka
//
LOCUS       NP_001093891             221 aa            linear   PRI 26-JAN-2023
DEFINITION  protein EURL homolog isoform 3 [Homo sapiens].
ACCESSION   NP_001093891
VERSION     NP_001093891.1
DBSOURCE    REFSEQ: accession NM_001100421.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 221)
  AUTHORS   Polubothu S, Zecchin D, Al-Olabi L, Lionarons DA, Harland M,
            Horswell S, Thomas AC, Hunt L, Wlodarchak N, Aguilera P, Brand S,
            Bryant D, Carrera C, Chen H, Elgar G, Harwood CA, Howell M, Larue
            L, Loughlin S, MacDonald J, Malvehy J, Barberan SM, da Silva VM,
            Molina M, Morrogh D, Moulding D, Nsengimana J, Pittman A,
            Puig-Butille JA, Parmar K, Sebire NJ, Scherer S, Stadnik P, Stanier
            P, Tell G, Waelchli R, Zarrei M, Puig S, Bataille V, Xing Y, Healy
            E, Moore GE, Di WL, Newton-Bishop J, Downward J and Kinsler VA.
  TITLE     Inherited duplications of PPP2R3B predispose to nevi and melanoma
            via a C21orf91-driven proliferative phenotype
  JOURNAL   Genet Med 23 (9), 1636-1647 (2021)
   PUBMED   34145395
REFERENCE   2  (residues 1 to 221)
  AUTHORS   Reiche L, Gottle P, Lane L, Duek P, Park M, Azim K, Schutte J,
            Manousi A, Schira-Heinen J and Kury P.
  TITLE     C21orf91 Regulates Oligodendroglial Precursor Cell Fate-A Switch in
            the Glial Lineage?
  JOURNAL   Front Cell Neurosci 15, 653075 (2021)
   PUBMED   33796011
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 221)
  AUTHORS   Li SS, Qu Z, Haas M, Ngo L, Heo YJ, Kang HJ, Britto JM, Cullen HD,
            Vanyai HK, Tan SS, Chan-Ling T, Gunnersen JM and Heng JI.
  TITLE     The HSA21 gene EURL/C21ORF91 controls neurogenesis within the
            cerebral cortex and is implicated in the pathogenesis of Down
            Syndrome
  JOURNAL   Sci Rep 6, 29514 (2016)
   PUBMED   27404227
  REMARK    GeneRIF: EURL is an important new player in neuronal development
            that is likely to impact on the neuropathogenesis of HSA21-related
            disorders including Down Syndrome.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 221)
  AUTHORS   Kriesel JD, Jones BB, Matsunami N, Patel MK, St Pierre CA,
            Kurt-Jones EA, Finberg RW, Leppert M and Hobbs MR.
  TITLE     C21orf91 genotypes correlate with herpes simplex labialis (cold
            sore) frequency: description of a cold sore susceptibility gene
  JOURNAL   J Infect Dis 204 (11), 1654-1662 (2011)
   PUBMED   22039568
  REMARK    GeneRIF: Two complementary techniques identified C21orf91 as a gene
            of interest for susceptibility to herpes simplex labialis.
REFERENCE   5  (residues 1 to 221)
  AUTHORS   Godbout R, Andison R, Katyal S and Bisgrove DA.
  TITLE     Isolation of a novel cDNA enriched in the undifferentiated chick
            retina and lens
  JOURNAL   Dev Dyn 227 (3), 409-415 (2003)
   PUBMED   12815627
  REMARK    GeneRIF: Authors demonstrate that human AL109761 is in fact the
            human ortholog of chicken EURL (GeneID: 395489)
REFERENCE   6  (residues 1 to 221)
  AUTHORS   Dominguez O, Ashhab Y, Sabater L, Belloso E, Caro P and
            Pujol-Borrell R.
  TITLE     Cloning of ARE-containing genes by AU-motif-directed display
  JOURNAL   Genomics 54 (2), 278-286 (1998)
   PUBMED   9828130
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BF739854.1, DA215855.1, AF239726.1, AL109761.3 and CR749496.1.
            
            Transcript Variant: This variant (3) lacks an exon in the 3' coding
            region, compared to variant 1. The resulting isoform (3) is
            C-terminal truncated, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.205644.1,
                                           SRR1660803.207249.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..221
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q21.1"
     Protein         1..221
                     /product="protein EURL homolog isoform 3"
                     /note="protein EURL homolog; early undifferentiated retina
                     and lens; cold sore susceptibility gene 1"
                     /calculated_mol_wt=25234
     Region          1..>221
                     /region_name="EURL"
                     /note="EURL protein; pfam06937"
                     /db_xref="CDD:284377"
     Region          194..216
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYK6.3)"
     CDS             1..221
                     /gene="C21orf91"
                     /gene_synonym="BTG3-7:1; C21orf14; C21orf38; CSSG1; EURL;
                     YG81"
                     /coded_by="NM_001100421.2:62..727"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS42909.1"
                     /db_xref="GeneID:54149"
                     /db_xref="HGNC:HGNC:16459"
ORIGIN      
        1 mneeeqfvni dlnddnicsv cklgtdketl sfchicfeln iegvpksdll htkslrghkd
       61 cfekyhlian qgcprsklsk styeevktil skkinwivqy aqnkdldsds ecsknpqhhl
      121 fnfrhkpeek llpqfdsqvp kysakwidgs aggisnctqr ileqrentdf glsmlqdsga
      181 tlcrnsvlwp hshnqaqkke etisspeanv qtqhphysre e
//
LOCUS       NP_001166938             431 aa            linear   PRI 19-FEB-2023
DEFINITION  transcription factor Sp7 isoform a [Homo sapiens].
ACCESSION   NP_001166938
VERSION     NP_001166938.1
DBSOURCE    REFSEQ: accession NM_001173467.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 431)
  AUTHORS   Gopinathan G, Luan X and Diekwisch TGH.
  TITLE     Epigenetic Repression of RUNX2 and OSX Promoters Controls the
            Nonmineralized State of the Periodontal Ligament
  JOURNAL   Genes (Basel) 14 (1), 201 (2023)
   PUBMED   36672941
  REMARK    GeneRIF: Epigenetic Repression of RUNX2 and OSX Promoters Controls
            the Nonmineralized State of the Periodontal Ligament.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 431)
  AUTHORS   Ludwig K, Ward LM, Khan N, Robinson ME, Miranda V, Bardai G,
            Moffatt P and Rauch F.
  TITLE     Dominant osteogenesis imperfecta with low bone turnover caused by a
            heterozygous SP7 variant
  JOURNAL   Bone 160, 116400 (2022)
   PUBMED   35367406
  REMARK    GeneRIF: Dominant osteogenesis imperfecta with low bone turnover
            caused by a heterozygous SP7 variant.
REFERENCE   3  (residues 1 to 431)
  AUTHORS   Hojo H and Ohba S.
  TITLE     Sp7 Action in the Skeleton: Its Mode of Action, Functions, and
            Relevance to Skeletal Diseases
  JOURNAL   Int J Mol Sci 23 (10), 5647 (2022)
   PUBMED   35628456
  REMARK    GeneRIF: Sp7 Action in the Skeleton: Its Mode of Action, Functions,
            and Relevance to Skeletal Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 431)
  AUTHORS   Fan Y, Cui C, Rosen CJ, Sato T, Xu R, Li P, Wei X, Bi R, Yuan Q and
            Zhou C.
  TITLE     Klotho in Osx+-mesenchymal progenitors exerts pro-osteogenic and
            anti-inflammatory effects during mandibular alveolar bone formation
            and repair
  JOURNAL   Signal Transduct Target Ther 7 (1), 155 (2022)
   PUBMED   35538062
  REMARK    GeneRIF: Klotho in Osx(+)-mesenchymal progenitors exerts
            pro-osteogenic and anti-inflammatory effects during mandibular
            alveolar bone formation and repair.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 431)
  AUTHORS   Wang JS, Kamath T, Mazur CM, Mirzamohammadi F, Rotter D, Hojo H,
            Castro CD, Tokavanich N, Patel R, Govea N, Enishi T, Wu Y, da Silva
            Martins J, Bruce M, Brooks DJ, Bouxsein ML, Tokarz D, Lin CP, Abdul
            A, Macosko EZ, Fiscaletti M, Munns CF, Ryder P, Kost-Alimova M,
            Byrne P, Cimini B, Fujiwara M, Kronenberg HM and Wein MN.
  TITLE     Control of osteocyte dendrite formation by Sp7 and its target gene
            osteocrin
  JOURNAL   Nat Commun 12 (1), 6271 (2021)
   PUBMED   34725346
  REMARK    GeneRIF: Control of osteocyte dendrite formation by Sp7 and its
            target gene osteocrin.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 431)
  AUTHORS   Morsczeck C.
  TITLE     Gene expression of runx2, Osterix, c-fos, DLX-3, DLX-5, and MSX-2
            in dental follicle cells during osteogenic differentiation in vitro
  JOURNAL   Calcif Tissue Int 78 (2), 98-102 (2006)
   PUBMED   16467978
  REMARK    GeneRIF: Gene expression of osterix was not detected in dental
            follicle cells during osteogenic differentiation.
REFERENCE   7  (residues 1 to 431)
  AUTHORS   Gao Y, Jheon A, Nourkeyhani H, Kobayashi H and Ganss B.
  TITLE     Molecular cloning, structure, expression, and chromosomal
            localization of the human Osterix (SP7) gene
  JOURNAL   Gene 341, 101-110 (2004)
   PUBMED   15474293
  REMARK    GeneRIF: The identification and initial characterization of the SP7
            gene will facilitate the study of the molecular regulation of
            osteoblast differentiation in humans.
REFERENCE   8  (residues 1 to 431)
  AUTHORS   Milona MA, Gough JE and Edgar AJ.
  TITLE     Expression of alternatively spliced isoforms of human Sp7 in
            osteoblast-like cells
  JOURNAL   BMC Genomics 4, 43 (2003)
   PUBMED   14604442
  REMARK    GeneRIF: Sp7 expression in humans is largely confined to
            osteoblasts and chondrocytes, both of which differentiate from the
            mesenchymal lineage. Of the two protein isoforms, the short isoform
            is most abundant.
            Publication Status: Online-Only
REFERENCE   9  (residues 1 to 431)
  AUTHORS   Gronthos S, Chen S, Wang CY, Robey PG and Shi S.
  TITLE     Telomerase accelerates osteogenesis of bone marrow stromal stem
            cells by upregulation of CBFA1, osterix, and osteocalcin
  JOURNAL   J Bone Miner Res 18 (4), 716-722 (2003)
   PUBMED   12674332
  REMARK    GeneRIF: Telomerase accelerates osteogenesis of bone marrow stromal
            stem cells by upregulation of CBFA1, osterix, and osteocalcin.
REFERENCE   10 (residues 1 to 431)
  AUTHORS   Nakashima K, Zhou X, Kunkel G, Zhang Z, Deng JM, Behringer RR and
            de Crombrugghe B.
  TITLE     The novel zinc finger-containing transcription factor osterix is
            required for osteoblast differentiation and bone formation
  JOURNAL   Cell 108 (1), 17-29 (2002)
   PUBMED   11792318
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK128520.1 and AF477981.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the Sp subfamily of Sp/XKLF
            transcription factors. Sp family proteins are sequence-specific
            DNA-binding proteins characterized by an amino-terminal
            trans-activation domain and three carboxy-terminal zinc finger
            motifs. This protein is a bone specific transcription factor and is
            required for osteoblast differentiation and bone
            formation.[provided by RefSeq, Jul 2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a). Variants 1 and 2 encode the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK128520.1, CN287220.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145240, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000536324.4/ ENSP00000443827.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..431
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     Protein         1..431
                     /product="transcription factor Sp7 isoform a"
                     /note="zinc finger protein osterix"
                     /calculated_mol_wt=44863
     Region          2..295
                     /region_name="SP7_N"
                     /note="N-terminal domain of transcription factor
                     Specificity Protein (SP) 7; cd22542"
                     /db_xref="CDD:411691"
     Region          30..56
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDD2.1)"
     Region          71..115
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDD2.1)"
     Region          154..260
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDD2.1)"
     Region          156..164
                     /region_name="9aaTAD.
                     /evidence=ECO:0000269|PubMed:31375868"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDD2.1)"
     Region          299..318
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(303,305,307,309..310,313..314,317,333,335,339..340,
                     343..344,347,361,363,365,367..368,371..372,375)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          310..337
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          326..348
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          340..365
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          356..376
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          367..431
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDD2.1)"
     CDS             1..431
                     /gene="SP7"
                     /gene_synonym="OI11; OI12; osterix; OSX"
                     /coded_by="NM_001173467.3:257..1552"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS44897.1"
                     /db_xref="GeneID:121340"
                     /db_xref="HGNC:HGNC:17321"
                     /db_xref="MIM:606633"
ORIGIN      
        1 masslleeev hygssplaml taacskfggs splrdsttlg kagtkkpysv gsdlsasktm
       61 gdaypapfts tngllspags ppaptsgyan dyppfshsfp gptgtqdpgl lvpkghsssd
      121 clpsvytsld mthpygswyk agihagispg pgntptpwwd mhpggnwlgg gqgqgdglqg
      181 tlptgpaqpp lnpqlptyps dfaplnpapy paphllqpgp qhvlpqdvyk pkavgnsgql
      241 egsggakppr gastggsggy ggsgagrssc dcpncqeler lgaaaaglrk kpihschipg
      301 cgkvygkash lkahlrwhtg erpfvcnwlf cgkrftrsde lerhvrthtr ekkftcllcs
      361 krftrsdhls khqrthgepg pgpppsgpke lgegrstgee easqtprpsa spatpekapg
      421 gspeqsnlle i
//
LOCUS       NP_001229957             419 aa            linear   PRI 19-FEB-2023
DEFINITION  RAC-beta serine/threonine-protein kinase isoform 2 [Homo sapiens].
ACCESSION   NP_001229957
VERSION     NP_001229957.1
DBSOURCE    REFSEQ: accession NM_001243028.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 419)
  AUTHORS   Wu X, Wang Y, Chen H, Wang Y and Gu Y.
  TITLE     Phosphatase and tensin homologue determine inflammatory status by
            differentially regulating the expression of Akt1 and Akt2 in
            macrophage alternative polarization of periodontitis
  JOURNAL   J Clin Periodontol 50 (2), 220-231 (2023)
   PUBMED   36217693
  REMARK    GeneRIF: Phosphatase and tensin homologue determine inflammatory
            status by differentially regulating the expression of Akt1 and Akt2
            in macrophage alternative polarization of periodontitis.
REFERENCE   2  (residues 1 to 419)
  AUTHORS   Makinen S, Datta N, Rangarajan S, Nguyen YH, Olkkonen VM,
            Latva-Rasku A, Nuutila P, Laakso M and Koistinen HA.
  TITLE     Finnish-specific AKT2 gene variant leads to impaired insulin
            signalling in myotubes
  JOURNAL   J Mol Endocrinol 70 (2), e210285 (2023)
   PUBMED   36409629
  REMARK    GeneRIF: Finnish-specific AKT2 gene variant leads to impaired
            insulin signalling in myotubes.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 419)
  AUTHORS   Gong SX, Yang FS and Qiu DD.
  TITLE     CircPTK2 accelerates tumorigenesis of colorectal cancer by
            upregulating AKT2 expression via miR-506-3p
  JOURNAL   Kaohsiung J Med Sci 38 (11), 1060-1069 (2022)
   PUBMED   36156852
  REMARK    GeneRIF: CircPTK2 accelerates tumorigenesis of colorectal cancer by
            upregulating AKT2 expression via miR-506-3p.
REFERENCE   4  (residues 1 to 419)
  AUTHORS   Liu H, Stepicheva NA, Ghosh S, Shang P, Chowdhury O, Daley RA,
            Yazdankhah M, Gupta U, Hose SL, Valapala M, Fitting CS, Strizhakova
            A, Shan Y, Feenstra D, Sahel JA, Jayagopal A, Handa JT, Zigler JS
            Jr, Fort PE, Sodhi A and Sinha D.
  TITLE     Reducing Akt2 in retinal pigment epithelial cells causes a
            compensatory increase in Akt1 and attenuates diabetic retinopathy
  JOURNAL   Nat Commun 13 (1), 6045 (2022)
   PUBMED   36229454
  REMARK    GeneRIF: Reducing Akt2 in retinal pigment epithelial cells causes a
            compensatory increase in Akt1 and attenuates diabetic retinopathy.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 419)
  AUTHORS   Zhang ZD, Wen B, Li DJ, Deng DX, Wu XD, Cheng YW, Liao LD, Long L,
            Dong G, Xu LY and Li EM.
  TITLE     AKT serine/threonine kinase 2-mediated phosphorylation of fascin
            threonine 403 regulates esophageal cancer progression
  JOURNAL   Int J Biochem Cell Biol 145, 106188 (2022)
   PUBMED   35219877
  REMARK    GeneRIF: AKT serine/threonine kinase 2-mediated phosphorylation of
            fascin threonine 403 regulates esophageal cancer progression.
REFERENCE   6  (residues 1 to 419)
  AUTHORS   Meier R, Alessi DR, Cron P, Andjelkovic M and Hemmings BA.
  TITLE     Mitogenic activation, phosphorylation, and nuclear translocation of
            protein kinase Bbeta
  JOURNAL   J Biol Chem 272 (48), 30491-30497 (1997)
   PUBMED   9374542
REFERENCE   7  (residues 1 to 419)
  AUTHORS   Cheng JQ, Ruggeri B, Klein WM, Sonoda G, Altomare DA, Watson DK and
            Testa JR.
  TITLE     Amplification of AKT2 in human pancreatic cells and inhibition of
            AKT2 expression and tumorigenicity by antisense RNA
  JOURNAL   Proc Natl Acad Sci U S A 93 (8), 3636-3641 (1996)
   PUBMED   8622988
REFERENCE   8  (residues 1 to 419)
  AUTHORS   Cheng JQ, Godwin AK, Bellacosa A, Taguchi T, Franke TF, Hamilton
            TC, Tsichlis PN and Testa JR.
  TITLE     AKT2, a putative oncogene encoding a member of a subfamily of
            protein-serine/threonine kinases, is amplified in human ovarian
            carcinomas
  JOURNAL   Proc Natl Acad Sci U S A 89 (19), 9267-9271 (1992)
   PUBMED   1409633
REFERENCE   9  (residues 1 to 419)
  AUTHORS   Jones PF, Jakubowicz T and Hemmings BA.
  TITLE     Molecular cloning of a second form of rac protein kinase
  JOURNAL   Cell Regul 2 (12), 1001-1009 (1991)
   PUBMED   1801921
REFERENCE   10 (residues 1 to 419)
  AUTHORS   Staal,S.P.
  TITLE     Molecular cloning of the akt oncogene and its human homologues AKT1
            and AKT2: amplification of AKT1 in a primary human gastric
            adenocarcinoma
  JOURNAL   Proc Natl Acad Sci U S A 84 (14), 5034-5037 (1987)
   PUBMED   3037531
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN351354.1, AK308006.1,
            AC118344.2, AK122839.1, KC877734.1 and BM675176.1.
            
            Summary: This gene is a putative oncogene encoding a protein
            belonging to a subfamily of serine/threonine kinases containing
            SH2-like (Src homology 2-like) domains, which is involved in
            signaling pathways. The gene serves as an oncogene in the
            tumorigenesis of cancer cells For example, its overexpression
            contributes to the malignant phenotype of a subset of human ductal
            pancreatic cancers. The encoded protein is a general protein kinase
            capable of phophorylating several known proteins, and has also been
            implicated in insulin signaling. [provided by RefSeq, Nov 2019].
            
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks
            an alternate exon in the 5' coding region, and initiates
            translation at a downstream AUG. This results in a protein (isoform
            2) with a shorter N-terminus, compared to isoform 1. Variants 2 and
            3 encode isoform 2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1177332.1, AK308006.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..419
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     Protein         1..419
                     /product="RAC-beta serine/threonine-protein kinase isoform
                     2"
                     /EC_number="2.7.11.1"
                     /note="rac protein kinase beta; v-akt murine thymoma viral
                     oncogene homolog 2; RAC-PK-beta; RAC-beta
                     serine/threonine-protein kinase; murine thymoma viral
                     (v-akt) homolog-2; PKB beta; protein kinase Akt-2;
                     putative v-akt murine thymoma viral oncoprotein 2; protein
                     kinase B beta"
                     /calculated_mol_wt=48372
     Region          <1..49
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          94..416
                     /region_name="STKc_PKB_beta"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Protein Kinase B beta (also called Akt2); cd05595"
                     /db_xref="CDD:173686"
     Site            order(96..97,99..100,104,117,119,131,134,151,167..170,174,
                     176,180,213,215,217..218,220,230..231,234,248..255,280,
                     286,289,377,381)
                     /site_type="active"
                     /db_xref="CDD:173686"
     Site            order(96..97,99,104,117,119,151,167..170,174,213,215,
                     217..218,220,230..231,377)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:173686"
     Site            order(100,131,134,174,176,180,213,215,217,234,248..255,
                     280,286,289,381)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:173686"
     Site            230..253
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:173686"
     Site            389
                     /site_type="other"
                     /note="turn motif phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:173686"
     Site            408..413
                     /site_type="other"
                     /note="hydrophobic motif (HM)"
                     /db_xref="CDD:173686"
     CDS             1..419
                     /gene="AKT2"
                     /gene_synonym="HIHGHH; PKBB; PKBBETA; PRKBB; RAC-BETA"
                     /coded_by="NM_001243028.3:306..1565"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="GeneID:208"
                     /db_xref="HGNC:HGNC:392"
                     /db_xref="MIM:164731"
ORIGIN      
        1 mkterprpnt fvirclqwtt viertfhvds pdereewmra iqmvanslkq rapgedpmdy
       61 kcgspsdsst teemevavsk arakvtmndf dylkllgkgt fgkvilvrek atgryyamki
      121 lrkeviiakd evahtvtesr vlqntrhpfl talkyafqth drlcfvmeya nggelffhls
      181 rervfteera rfygaeivsa leylhsrdvv yrdiklenlm ldkdghikit dfglckegis
      241 dgatmktfcg tpeylapevl edndygravd wwglgvvmye mmcgrlpfyn qdherlfeli
      301 lmeeirfprt lspeakslla gllkkdpkqr lgggpsdake vmehrfflsi nwqdvvqkkl
      361 lppfkpqvts evdtryfdde ftaqsititp pdrydslgll eldqrthfpq fsysasire
//
LOCUS       NP_001394948             311 aa            linear   PRI 26-FEB-2023
DEFINITION  uncharacterized protein LOC157542 isoform 2 precursor [Homo
            sapiens].
ACCESSION   NP_001394948
VERSION     NP_001394948.1
DBSOURCE    REFSEQ: accession NM_001408019.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 311)
  AUTHORS   Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R,
            Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine
            M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J,
            Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K,
            Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T,
            Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi
            T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato
            K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H,
            Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S,
            Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta
            T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO,
            Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N,
            Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y,
            Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H,
            Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A,
            Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T,
            Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai
            A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H,
            Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M,
            Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y,
            Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K,
            Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M,
            Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano
            J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T,
            Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T,
            Nakamura Y, Ohara O, Isogai T and Sugano S.
  TITLE     Complete sequencing and characterization of 21,243 full-length
            human cDNAs
  JOURNAL   Nat Genet 36 (1), 40-45 (2004)
   PUBMED   14702039
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC084125.9.
            
            Summary: This locus represents naturally occurring read-through
            transcription between the neighboring LOC84773 and cysteine and
            histidine rich 1 (CYHR1). It encodes a fusion protein that shares
            sequence identity with proteins encoded by both independent genes.
            [provided by RefSeq, Feb 2022].
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2149178
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            readthrough transcript :: includes exons from GeneID 50626, 84773
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..311
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..311
                     /product="uncharacterized protein LOC157542 isoform 2
                     precursor"
                     /note="TMEM276-CYHR1 readthrough; LOC84773-CYHR1
                     readthrough"
                     /calculated_mol_wt=32515
     sig_peptide     1..30
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3002
     Region          <31..68
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Region          73..>134
                     /region_name="Sina"
                     /note="Seven in absentia (Sina) protein family, C-terminal
                     substrate binding domain; composed of the Drosophila Sina
                     protein, the mammalian Sina homolog (Siah), the plant
                     protein SINAT5, and similar proteins. Sina, Siah and
                     SINAT5 are RING-containing proteins...; cl19105"
                     /db_xref="CDD:450253"
     Region          156..311
                     /region_name="CYHR1_C"
                     /note="C-terminal domain of cysteine and histidine-rich
                     protein 1 and similar proteins; cd22861"
                     /db_xref="CDD:439370"
     CDS             1..311
                     /gene="TMEM276-ZFTRAF1"
                     /gene_synonym="LOC84773-CYHR1"
                     /coded_by="NM_001408019.1:279..1214"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 8"
                     /db_xref="GeneID:157542"
                     /db_xref="HGNC:HGNC:56752"
ORIGIN      
        1 mapkpgaews talshlvlgv vslhaavsta ectnghlmca gcfihllada rlkeeqatcp
       61 ncrceisksl ccrnlaveka vselpsecgf clrqfprsll erhqkeecqd rvtqckykri
      121 gcpwhgpfhe ltvheaacah ptktgselme ildgmdqshr kemqlynsif sllsfekigy
      181 tevqfrpyrt ddfitrlyye tprftvlnqt wvlkarvnds ernpnlsckr tlsfqlllks
      241 kvtaplecsf lllkgpyddv rispviyhfv ftnesnetdy vplpiidsve cnkllaakni
      301 nlrlflfqiq k
//
LOCUS       NP_060563                385 aa            linear   PRI 26-FEB-2023
DEFINITION  WD repeat-containing protein 74 isoform 1 [Homo sapiens].
ACCESSION   NP_060563 XP_941362
VERSION     NP_060563.2
DBSOURCE    REFSEQ: accession NM_018093.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 385)
  AUTHORS   Wu F, Wu H, Hu W, Zhang Z and Zhang X.
  TITLE     WDR74 rs11231247 contributes to the susceptibility and prognosis of
            non-small cell lung cancer
  JOURNAL   Pathol Res Pract 242, 154318 (2023)
   PUBMED   36701849
  REMARK    GeneRIF: WDR74 rs11231247 contributes to the susceptibility and
            prognosis of non-small cell lung cancer.
REFERENCE   2  (residues 1 to 385)
  AUTHORS   Li Y, Zhou Y, Li B, Chen F, Shen W, Lu Y, Zhong C, Zhang C, Xie H,
            Katanaev VL and Jia L.
  TITLE     WDR74 modulates melanoma tumorigenesis and metastasis through the
            RPL5-MDM2-p53 pathway
  JOURNAL   Oncogene 39 (13), 2741-2755 (2020)
   PUBMED   32005977
  REMARK    GeneRIF: WDR74 modulates melanoma tumorigenesis and metastasis
            through the RPL5-MDM2-p53 pathway.
REFERENCE   3  (residues 1 to 385)
  AUTHORS   Li Y, Chen F, Shen W, Li B, Xiang R, Qu L, Zhang C, Li G, Xie H,
            Katanaev VL and Jia L.
  TITLE     WDR74 induces nuclear beta-catenin accumulation and activates
            Wnt-responsive genes to promote lung cancer growth and metastasis
  JOURNAL   Cancer Lett 471, 103-115 (2020)
   PUBMED   31838084
  REMARK    GeneRIF: WDR74 induces nuclear beta-catenin accumulation and
            activates Wnt-responsive genes to promote lung cancer growth and
            metastasis.
REFERENCE   4  (residues 1 to 385)
  AUTHORS   Liu J, Zhao M, Yuan B, Gu S, Zheng M, Zou J, Jin J, Liu T and Feng
            XH.
  TITLE     WDR74 functions as a novel coactivator in TGF-beta signaling
  JOURNAL   J Genet Genomics 45 (12), 639-650 (2018)
   PUBMED   30594465
  REMARK    GeneRIF: Through direct interactions with Smad proteins, WDR74
            enhances TGF-beta-mediated phosphorylation and nuclear accumulation
            of Smad2 and Smad3.
REFERENCE   5  (residues 1 to 385)
  AUTHORS   Hiraishi N, Ishida YI, Sudo H and Nagahama M.
  TITLE     WDR74 participates in an early cleavage of the pre-rRNA processing
            pathway in cooperation with the nucleolar AAA-ATPase NVL2
  JOURNAL   Biochem Biophys Res Commun 495 (1), 116-123 (2018)
   PUBMED   29107693
  REMARK    GeneRIF: knockdown of WDR74 leads to significant defects in the
            pre-rRNA cleavage within the internal transcribed spacer 1,
            occurring in an early stage of the processing pathway. When the
            dissociation of WDR74 from the MTR4-containing exonuclease complex
            was impaired upon expression of mutant NVL2, the same processing
            defect, with partial migration of WDR74 from the nucleolus towards
            the nucleoplasm, was observed.
REFERENCE   6  (residues 1 to 385)
  AUTHORS   Lo YH, Romes EM, Pillon MC, Sobhany M and Stanley RE.
  TITLE     Structural Analysis Reveals Features of Ribosome Assembly Factor
            Nsa1/WDR74 Important for Localization and Interaction with
            Rix7/NVL2
  JOURNAL   Structure 25 (5), 762-772 (2017)
   PUBMED   28416111
REFERENCE   7  (residues 1 to 385)
  AUTHORS   Hiraishi N, Ishida Y and Nagahama M.
  TITLE     AAA-ATPase NVL2 acts on MTR4-exosome complex to dissociate the
            nucleolar protein WDR74
  JOURNAL   Biochem Biophys Res Commun 467 (3), 534-540 (2015)
   PUBMED   26456651
  REMARK    GeneRIF: results suggest that WDR74 is a novel regulatory protein
            of the MTR4-exsosome complex whose interaction is regulated by NVL2
            and is involved in ribosome biogenesis
REFERENCE   8  (residues 1 to 385)
  AUTHORS   Eilbracht J, Reichenzeller M, Hergt M, Schnolzer M, Heid H, Stohr
            M, Franke WW and Schmidt-Zachmann MS.
  TITLE     NO66, a highly conserved dual location protein in the nucleolus and
            in a special type of synchronously replicating chromatin
  JOURNAL   Mol Biol Cell 15 (4), 1816-1832 (2004)
   PUBMED   14742713
REFERENCE   9  (residues 1 to 385)
  AUTHORS   Scherl A, Coute Y, Deon C, Calle A, Kindbeiter K, Sanchez JC, Greco
            A, Hochstrasser D and Diaz JJ.
  TITLE     Functional proteomic analysis of human nucleolus
  JOURNAL   Mol Biol Cell 13 (11), 4100-4109 (2002)
   PUBMED   12429849
REFERENCE   10 (residues 1 to 385)
  AUTHORS   Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M and
            Lamond AI.
  TITLE     Directed proteomic analysis of the human nucleolus
  JOURNAL   Curr Biol 12 (1), 1-11 (2002)
   PUBMED   11790298
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK001301.1, AY500828.1, BC006351.2 and BU740579.1.
            On Jan 23, 2009 this sequence version replaced NP_060563.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK001301.1, SRR7410570.472170.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..385
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     Protein         1..385
                     /product="WD repeat-containing protein 74 isoform 1"
                     /note="WD repeat-containing protein 74; NOP
                     seven-associated protein 1"
                     /calculated_mol_wt=42310
     Region          17..329
                     /region_name="WDR74"
                     /note="WD repeat-containing protein 74; cd22857"
                     /db_xref="CDD:439303"
     Region          18..40
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439303"
     Region          40..80
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          43..79
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439303"
     Region          45..85
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          83..122
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          89..123
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439303"
     Region          91..127
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          128..168
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          131..172
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439303"
     Region          133..171
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Site            order(171,174..176,181,199,221,226..228,265..268)
                     /site_type="other"
                     /note="putative rRNA binding site [nucleotide binding]"
                     /db_xref="CDD:439303"
     Region          179..220
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          185..224
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          187..234
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439303"
     Site            214
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          224..266
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          230..266
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          237..270
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439303"
     Region          267..306
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          273..309
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439303"
     Site            311
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          320..385
                     /region_name="Required for nucleolar and nuclear location.
                     /evidence=ECO:0000269|PubMed:28416111"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          323..345
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Region          360..385
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RFH5.1)"
     Site            361
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q6RFH5.1)"
     CDS             1..385
                     /gene="WDR74"
                     /gene_synonym="Nsa1"
                     /coded_by="NM_018093.3:169..1326"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS44630.1"
                     /db_xref="GeneID:54663"
                     /db_xref="HGNC:HGNC:25529"
                     /db_xref="MIM:617947"
ORIGIN      
        1 maaaaarwnh vwvgtetgil kgvnlqrkqa anftaggqpr reeavsalcw gtggetqmlv
       61 gcadrtvkhf stedgifqgq rhcpggegmf rglaqadgtl itcvdsgilr vwhdkdkdts
      121 sdpllelrvg pgvcrmrqdp ahphvvatgg kenalkiwdl qgseepvfra knvrndwldl
      181 rvpiwdqdiq flpgsqklvt ctgyhqvrvy dpaspqrrpv lettygeypl tamtltpggn
      241 svivgnthgq laeidlrqgr llgclkglag svrglqchps kpllascgld rvlrihriqn
      301 prglehkvyl ksqlncllls grdnwedepq epqepnkvpl edtetdelwa sleaaakrkl
      361 sgleqpqgal qtrrrkkkrp gstsp
//
LOCUS       NP_542383                264 aa            linear   PRI 12-MAR-2023
DEFINITION  transmembrane protein 41A precursor [Homo sapiens].
ACCESSION   NP_542383
VERSION     NP_542383.1
DBSOURCE    REFSEQ: accession NM_080652.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 264)
  AUTHORS   Mesdaghi S, Murphy DL, Sanchez Rodriguez F, Burgos-Marmol JJ and
            Rigden DJ.
  TITLE     In silico prediction of structure and function for a large family
            of transmembrane proteins that includes human Tmem41b
  JOURNAL   F1000Res 9, 1395 (2020)
   PUBMED   33520197
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 264)
  AUTHORS   Zouboulis CC, Nogueira da Costa A, Fimmel S and Zouboulis KC.
  TITLE     Apocrine glands are bystanders in hidradenitis suppurativa and
            their involvement is gender specific
  JOURNAL   J Eur Acad Dermatol Venereol 34 (7), 1555-1563 (2020)
   PUBMED   32031713
REFERENCE   3  (residues 1 to 264)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 264)
  AUTHORS   Morita K, Hama Y, Izume T, Tamura N, Ueno T, Yamashita Y, Sakamaki
            Y, Mimura K, Morishita H, Shihoya W, Nureki O, Mano H and Mizushima
            N.
  TITLE     Genome-wide CRISPR screen identifies TMEM41B as a gene required for
            autophagosome formation
  JOURNAL   J Cell Biol 217 (11), 3817-3828 (2018)
   PUBMED   30093494
REFERENCE   5  (residues 1 to 264)
  AUTHORS   Lin B, Xue Y, Qi C, Chen X and Mao W.
  TITLE     Expression of transmembrane protein 41A is associated with
            metastasis via the modulation of E-cadherin in radically resected
            gastric cancer
  JOURNAL   Mol Med Rep 18 (3), 2963-2972 (2018)
   PUBMED   30015937
  REMARK    GeneRIF: The present study demonstrated a reduction in TMEM41A
            expression levels in a pair of GC cell lines, and revealed that
            high TMEM41A expression levels may promote GC-associated
            metastasis, which may be mediated by the downregulation of
            E-cadherin expression.
REFERENCE   6  (residues 1 to 264)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP274550.1, BC019884.1, AL832782.1 and AC099661.11.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK290878.1, SRR1803615.90803.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151358, SAMEA2159607
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000421852.6/ ENSP00000406885.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..264
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.2"
     Protein         1..264
                     /product="transmembrane protein 41A precursor"
                     /calculated_mol_wt=27861
     sig_peptide     1..17
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96HV5.1)"
                     /calculated_mol_wt=1822
     Site            67..87
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96HV5.1)"
     Region          85..205
                     /region_name="SNARE_assoc"
                     /note="SNARE associated Golgi protein; pfam09335"
                     /db_xref="CDD:430535"
     Region          96..207
                     /region_name="VTT domain.
                     /evidence=ECO:0000305|PubMed:30093494"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96HV5.1)"
     Site            100..122
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96HV5.1)"
     Site            153..173
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96HV5.1)"
     Site            175..195
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96HV5.1)"
     Site            219..239
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96HV5.1)"
     Site            250
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96HV5.1)"
     CDS             1..264
                     /gene="TMEM41A"
                     /gene_synonym="2900010K02Rik"
                     /coded_by="NM_080652.4:75..869"
                     /db_xref="CCDS:CCDS3271.1"
                     /db_xref="GeneID:90407"
                     /db_xref="HGNC:HGNC:30544"
ORIGIN      
        1 mrpllglllv fagctfalyl lstrlprgrr lgsteeaggr slwfpsdlae lrelsevlre
       61 yrkehqayvf llfcgaylyk qgfaipgssf lnvlagalfg pwlglllccv ltsvgatccy
      121 llssifgkql vvsyfpdkva llqrkveenr nslfffllfl rlfpmtpnwf lnlsapilni
      181 pivqfffsvl iglipynfic vqtgsilstl tsldalfswd tvfkllaiam valipgtlik
      241 kfsqkhlqln etstanhihs rkdt
//
LOCUS       NP_005049                496 aa            linear   PRI 14-MAR-2023
DEFINITION  RNA-binding motif protein, Y chromosome, family 1 member A1 isoform
            1 [Homo sapiens].
ACCESSION   NP_005049
VERSION     NP_005049.1
DBSOURCE    REFSEQ: accession NM_005058.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 496)
  AUTHORS   Chua HH, Chang MH, Chen YH, Tsuei DJ, Jeng YM, Lee PH and Ni YH.
  TITLE     PIM1-Induced Cytoplasmic Expression of RBMY Mediates Hepatocellular
            Carcinoma Metastasis
  JOURNAL   Cell Mol Gastroenterol Hepatol 15 (1), 121-152 (2023)
   PUBMED   36191855
  REMARK    GeneRIF: PIM1-Induced Cytoplasmic Expression of RBMY Mediates
            Hepatocellular Carcinoma Metastasis.
REFERENCE   2  (residues 1 to 496)
  AUTHORS   Kido T, Tabatabai ZL, Chen X and Lau YC.
  TITLE     Potential dual functional roles of the Y-linked RBMY in
            hepatocarcinogenesis
  JOURNAL   Cancer Sci 111 (8), 2987-2999 (2020)
   PUBMED   32473614
  REMARK    GeneRIF: Potential dual functional roles of the Y-linked RBMY in
            hepatocarcinogenesis.
REFERENCE   3  (residues 1 to 496)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 496)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (residues 1 to 496)
  AUTHORS   Yan Y, Yang X, Liu Y, Shen Y, Tu W, Dong Q, Yang D, Ma Y and Yang
            Y.
  TITLE     Copy number variation of functional RBMY1 is associated with sperm
            motility: an azoospermia factor-linked candidate for
            asthenozoospermia
  JOURNAL   Hum Reprod 32 (7), 1521-1531 (2017)
   PUBMED   28498920
  REMARK    GeneRIF: genetic association study in population in southwest
            China: Data suggest that copy number variation in RBMY1 is
            associated with sperm motility and asthenozoospermia; RBMY1
            functional copy dosage is positively correlated with sperm
            motility; dosage insufficiency is independent genetic risk factor
            for asthenozoospermia; RBMY1 is an important candidate for male
            infertility in azoospermia factor (AZF) region of Y-chromosome.
REFERENCE   6  (residues 1 to 496)
  AUTHORS   Elliott DJ, Millar MR, Oghene K, Ross A, Kiesewetter F, Pryor J,
            McIntyre M, Hargreave TB, Saunders PT, Vogt PH, Chandley AC and
            Cooke H.
  TITLE     Expression of RBM in the nuclei of human germ cells is dependent on
            a critical region of the Y chromosome long arm
  JOURNAL   Proc Natl Acad Sci U S A 94 (8), 3848-3853 (1997)
   PUBMED   9108067
REFERENCE   7  (residues 1 to 496)
  AUTHORS   Delbridge ML, Harry JL, Toder R, O'Neill RJ, Ma K, Chandley AC and
            Graves JA.
  TITLE     A human candidate spermatogenesis gene, RBM1, is conserved and
            amplified on the marsupial Y chromosome
  JOURNAL   Nat Genet 15 (2), 131-136 (1997)
   PUBMED   9020837
  REMARK    Erratum:[Nat Genet 1997 Apr;15(4):411]
REFERENCE   8  (residues 1 to 496)
  AUTHORS   Prosser J, Inglis JD, Condie A, Ma K, Kerr S, Thakrar R, Taylor K,
            Cameron JM and Cooke HJ.
  TITLE     Degeneracy in human multicopy RBM (YRRM), a candidate
            spermatogenesis gene
  JOURNAL   Mamm Genome 7 (11), 835-842 (1996)
   PUBMED   8875892
REFERENCE   9  (residues 1 to 496)
  AUTHORS   Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed
            RM, Thomson EJ, Jobling M, Taylor K et al.
  TITLE     A Y chromosome gene family with RNA-binding protein homology:
            candidates for the azoospermia factor AZF controlling human
            spermatogenesis
  JOURNAL   Cell 75 (7), 1287-1295 (1993)
   PUBMED   8269511
REFERENCE   10 (residues 1 to 496)
  AUTHORS   Fan,Y. and Silber,S.J.
  TITLE     Y Chromosome Infertility
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301513
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB107177.1, X76059.1 and
            BX119894.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a protein containing an RNA-binding
            motif in the N-terminus and four SRGY (serine, arginine, glycine,
            tyrosine) boxes in the C-terminus. This protein is thought to
            function as a splicing regulator during spermatogenesis. Multiple
            closely related paralogs of this gene are found in a gene cluster
            in the AZFb azoospermia factor region of chromosome Y. Most of
            these related copies are thought to be pseudogenes, though several
            likely encode functional proteins. [provided by RefSeq, Mar 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X76059.1, BC146853.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382707.6/ ENSP00000372154.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.223"
     Protein         1..496
                     /product="RNA-binding motif protein, Y chromosome, family
                     1 member A1 isoform 1"
                     /note="RNA-binding motif protein, Y chromosome, family 1
                     member A1/C; RNA-binding motif protein 2; Y chromosome RNA
                     recognition motif 1; Y chromosome RNA recognition motif 2"
                     /calculated_mol_wt=55653
     Region          <1..189
                     /region_name="RRM"
                     /note="RNA recognition motif (RRM) domain [Translation,
                     ribosomal structure and biogenesis]; COG0724"
                     /db_xref="CDD:223796"
     Region          7..85
                     /region_name="RRM_RBMX_like"
                     /note="RNA recognition motif (RRM) found in heterogeneous
                     nuclear ribonucleoprotein G (hnRNP G), Y chromosome RNA
                     recognition motif 1 (hRBMY), testis-specific heterogeneous
                     nuclear ribonucleoprotein G-T (hnRNP G-T) and similar
                     proteins; cd12382"
                     /db_xref="CDD:409816"
     Site            order(9,11,13..17,38,40..43,44..50,52,77,79,81..85)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:409816"
     Region          78..349
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DJD3.1)"
     Region          158..>316
                     /region_name="dnaA"
                     /note="chromosomal replication initiator protein DnaA;
                     cl42516"
                     /db_xref="CDD:455861"
     Region          174..218
                     /region_name="RBM1CTR"
                     /note="RBM1CTR (NUC064) family; pfam08081"
                     /db_xref="CDD:400429"
     Region          452..496
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DJD3.1)"
     CDS             1..496
                     /gene="RBMY1A1"
                     /gene_synonym="RBM; RBM1; RBM2; RBMY; RBMY1C; YRRM1;
                     YRRM2"
                     /coded_by="NM_005058.4:153..1643"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS14796.1"
                     /db_xref="GeneID:5940"
                     /db_xref="HGNC:HGNC:9912"
                     /db_xref="MIM:400006"
ORIGIN      
        1 mveadhpgkl figglnretn ekmlkavfgk hgpisevlli kdrtsksrgf afitfenpad
       61 aknaakdmng kslhgkaikv eqakkpsfqs ggrrrppass rnrspsgslr sargsrggtr
      121 gwlpsheghl ddggytpdlk msysrglipv krgpssrsgg pppkksapsa varsnswmgs
      181 qgpmsqrren ygvpprrati sswrndrmst rhdgyatndg nhpscqetrd yappsrgyay
      241 rdnghsnrde hssrgyrnhr ssretrdyap psrghayrdy ghsrrdesys rgyrnrrssr
      301 etreyappsr ghgyrdyghs rrhesysrgy rnhpssretr dyapphrdya yrdyghsswd
      361 ehssrgysyh dgygealgrd hsehlsgssy rdalqrygts hgappargpr msyggstcha
      421 ysntrdrygr swesysscgd fhycdrehvc rkdqrnppsl grvlpdprea cgsssyvasi
      481 vdggesrsek gdssry
//
LOCUS       NP_001519                655 aa            linear   PRI 15-MAR-2023
DEFINITION  hepatocyte growth factor activator isoform 2 preproprotein [Homo
            sapiens].
ACCESSION   NP_001519
VERSION     NP_001519.1
DBSOURCE    REFSEQ: accession NM_001528.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 655)
  AUTHORS   Sargsyan A, Doridot L, Hannou SA, Tong W, Srinivasan H, Ivison R,
            Monn R, Kou HH, Haldeman JM, Arlotto M, White PJ, Grimsrud PA,
            Astapova I, Tsai LT and Herman MA.
  TITLE     HGFAC is a ChREBP-regulated hepatokine that enhances glucose and
            lipid homeostasis
  JOURNAL   JCI Insight 8 (1), e153740 (2023)
   PUBMED   36413406
  REMARK    GeneRIF: HGFAC is a ChREBP-regulated hepatokine that enhances
            glucose and lipid homeostasis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 655)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 655)
  AUTHORS   Yin L, Mu Y, Lin Y and Xia Q.
  TITLE     HGFAC expression decreased in liver cancer and its low expression
            correlated with DNA hypermethylation and poor prognosis
  JOURNAL   J Cell Biochem 120 (6), 9692-9699 (2019)
   PUBMED   30635948
  REMARK    GeneRIF: Hypermethylation around the promoter region contributed to
            the decreased expression of HGFAC. HGFAC may be a useful and
            predictive biomarker for the prognosis of liver cancer patients.
REFERENCE   4  (residues 1 to 655)
  AUTHORS   Larson NB, Berardi C, Decker PA, Wassel CL, Kirsch PS, Pankow JS,
            Sale MM, de Andrade M, Sicotte H, Tang W, Hanson NQ, Tsai MY,
            Taylor KD and Bielinski SJ.
  TITLE     Trans-ethnic meta-analysis identifies common and rare variants
            associated with hepatocyte growth factor levels in the Multi-Ethnic
            Study of Atherosclerosis (MESA)
  JOURNAL   Ann Hum Genet 79 (4), 264-274 (2015)
   PUBMED   25998175
  REMARK    GeneRIF: Based upon ethnicity-stratified single-variant association
            analysis and trans-ethnic meta-analysis of 6201 participants of the
            Multi-Ethnic Study of Atherosclerosis, discovered 5 common and
            low-frequency variants: HGF missense polymorphism rs5745687
            (p.E299K) and 4 variants (rs16844364, rs4690098, rs114303452,
            rs3748034) within or in proximity to HGFAC.[Meta-analysis]
REFERENCE   5  (residues 1 to 655)
  AUTHORS   Yokoyama K, Urashima M, Ohkido I, Kono T, Yoshida T, Muramatsu M,
            Niu T and Hosoya T.
  TITLE     L-type voltage-dependent calcium channel alpha subunit 1C is a
            novel candidate gene associated with secondary hyperparathyroidism:
            an application of haplotype-based analysis for multiple linked
            single nucleotide polymorphisms
  JOURNAL   Nephron Clin Pract 115 (4), c237-c243 (2010)
   PUBMED   20424473
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 655)
  AUTHORS   Miyazawa K, Shimomura T and Kitamura N.
  TITLE     Activation of hepatocyte growth factor in the injured tissues is
            mediated by hepatocyte growth factor activator
  JOURNAL   J Biol Chem 271 (7), 3615-3618 (1996)
   PUBMED   8631970
REFERENCE   7  (residues 1 to 655)
  AUTHORS   Shimomura T, Kondo J, Ochiai M, Naka D, Miyazawa K, Morimoto Y and
            Kitamura N.
  TITLE     Activation of the zymogen of hepatocyte growth factor activator by
            thrombin
  JOURNAL   J Biol Chem 268 (30), 22927-22932 (1993)
   PUBMED   8226803
REFERENCE   8  (residues 1 to 655)
  AUTHORS   Miyazawa K, Shimomura T, Kitamura A, Kondo J, Morimoto Y and
            Kitamura N.
  TITLE     Molecular cloning and sequence analysis of the cDNA for a human
            serine protease reponsible for activation of hepatocyte growth
            factor. Structural similarity of the protease precursor to blood
            coagulation factor XII
  JOURNAL   J Biol Chem 268 (14), 10024-10028 (1993)
   PUBMED   7683665
REFERENCE   9  (residues 1 to 655)
  AUTHORS   Shimomura T, Ochiai M, Kondo J and Morimoto Y.
  TITLE     A novel protease obtained from FBS-containing culture supernatant,
            that processes single chain form hepatocyte growth factor to two
            chain form in serum-free culture
  JOURNAL   Cytotechnology 8 (3), 219-229 (1992)
   PUBMED   1368819
REFERENCE   10 (residues 1 to 655)
  AUTHORS   Nakamura T.
  TITLE     Structure and function of hepatocyte growth factor
  JOURNAL   Prog Growth Factor Res 3 (1), 67-85 (1991)
   PUBMED   1838014
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC112190.1 and D14012.1.
            
            Summary: This gene encodes a member of the peptidase S1 protein
            family. The encoded protein is first synthesized as an inactive
            single-chain precursor before being activated to a heterodimeric
            form by endoproteolytic processing. It acts as serine protease that
            converts hepatocyte growth factor to the active form. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jul 2014].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            central coding region, compared to variant 1. The encoded isoform
            (2) is shorter, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: D14012.1, BC112190.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2155590
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382774.8/ ENSP00000372224.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..655
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     Protein         1..655
                     /product="hepatocyte growth factor activator isoform 2
                     preproprotein"
                     /EC_number="3.4.21.-"
                     /note="hepatocyte growth factor activator"
                     /calculated_mol_wt=66750
     sig_peptide     1..35
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3950
     Region          <32..>100
                     /region_name="PRK14954"
                     /note="DNA polymerase III subunits gamma and tau;
                     Provisional"
                     /db_xref="CDD:184918"
     Site            48
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q04756.1)"
     Region          64..102
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04756.1)"
     Region          102..148
                     /region_name="FN2"
                     /note="Fibronectin type 2 domain; smart00059"
                     /db_xref="CDD:128373"
     Site            order(112,114,119,132,139,145,147)
                     /site_type="active"
                     /note="putative gelatin-binding site [active]"
                     /db_xref="CDD:238019"
     Region          162..197
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Region          200..240
                     /region_name="FN1"
                     /note="Fibronectin type 1 domain, approximately 40 residue
                     long with two conserved disulfide bridges. FN1 is one of
                     three types of internal repeats which combine to form
                     larger domains within fibronectin. Fibronectin, a plasma
                     protein that binds cell surfaces...; cd00061"
                     /db_xref="CDD:238018"
     Region          245..278
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Region          286..367
                     /region_name="Kringle"
                     /note="Kringle domain; pfam00051"
                     /db_xref="CDD:395005"
     Site            290
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q04756.1)"
     Site            295
                     /site_type="active"
                     /note="putative domain interaction site [active]"
                     /db_xref="CDD:238056"
     Site            order(310,322,348,350,359)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:238056"
     mat_peptide     373..407
                     /product="Hepatocyte growth factor activator short chain.
                     /id=PRO_0000027912"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04756.1)"
                     /calculated_mol_wt=3954
     mat_peptide     408..655
                     /product="Hepatocyte growth factor activator long chain.
                     /id=PRO_0000027913"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04756.1)"
                     /calculated_mol_wt=26910
     Region          408..643
                     /region_name="Tryp_SPc"
                     /note="Trypsin-like serine protease; Many of these are
                     synthesized as inactive precursor zymogens that are
                     cleaved during limited proteolysis to generate their
                     active forms. Alignment contains also inactive enzymes
                     that have substitutions of the catalytic triad...;
                     cd00190"
                     /db_xref="CDD:238113"
     Site            408
                     /site_type="active"
                     /note="cleavage site [active]"
                     /db_xref="CDD:238113"
     Site            order(447,497,598)
                     /site_type="active"
                     /db_xref="CDD:238113"
     Site            468
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:18077410, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (Q04756.1)"
     Site            546
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q04756.1)"
     Site            order(592,617,619)
                     /site_type="other"
                     /note="substrate binding sites [chemical binding]"
                     /db_xref="CDD:238113"
     CDS             1..655
                     /gene="HGFAC"
                     /gene_synonym="HGFA"
                     /coded_by="NM_001528.4:35..2002"
                     /note="isoform 2 preproprotein is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS3369.1"
                     /db_xref="GeneID:3083"
                     /db_xref="HGNC:HGNC:4894"
                     /db_xref="MIM:604552"
ORIGIN      
        1 mgrwawvpsp wpppglgpfl lllllllllp rgfqpqpggn rtespepnat atpaiptilv
       61 tsvtsetpat sapeaegpqs gglpppprav psssspqaqa ltedgrpcrf pfryggrmlh
      121 actsegsahr kwcatthnyd rdrawgycve atpppggpaa ldpcasgpcl nggscsntqd
      181 pqsyhcscpr aftgkdcgte kcfdetryey leggdrwarv rqghveqcec fggrtwcegt
      241 rhtaclsspc lnggtchliv atgttvcacp pgfagrlcni epdercflgn gtgyrgvast
      301 sasglsclaw nsdllyqelh vdsvgaaall glgphaycrn pdnderpwcy vvkdsalswe
      361 ycrleacesl trvqlspdll atlpepaspg rqacgrrhkk rtflrpriig gssslpgshp
      421 wlaaiyigds fcagslvhtc wvvsaahcfs hspprdsvsv vlgqhffnrt tdvtqtfgie
      481 kyipytlysv fnpsdhdlvl irlkkkgdrc atrsqfvqpi clpepgstfp aghkcqiagw
      541 ghldenvsgy ssslrealvp lvadhkcssp evygadispn mlcagyfdck sdacqgdsgg
      601 placekngva ylygiiswgd gcgrlhkpgv ytrvanyvdw indrirpprr lvaps
//
LOCUS       NP_001839               1028 aa            linear   PRI 17-MAR-2023
DEFINITION  collagen alpha-1(VI) chain precursor [Homo sapiens].
ACCESSION   NP_001839
VERSION     NP_001839.2
DBSOURCE    REFSEQ: accession NM_001848.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1028)
  AUTHORS   Qu X, Hou X, Chen Z, Chen G, Fan T and Yang X.
  TITLE     Association analysis and functional study of COL6A1 single
            nucleotide polymorphisms in thoracic ossification of the ligamentum
            flavum in the Chinese Han population
  JOURNAL   Eur Spine J 30 (10), 2782-2790 (2021)
   PUBMED   34287704
  REMARK    GeneRIF: Association analysis and functional study of COL6A1 single
            nucleotide polymorphisms in thoracic ossification of the ligamentum
            flavum in the Chinese Han population.
REFERENCE   2  (residues 1 to 1028)
  AUTHORS   Piao XM, Hwang B, Jeong P, Byun YJ, Kang HW, Seo SP, Kim WT, Lee
            JY, Ha YS, Lee YS, Kim IY, Choi YH, Cha EJ, Moon SK, Yun SJ and Kim
            WJ.
  TITLE     Collagen type VI-alpha1 and 2 repress the proliferation, migration
            and invasion of bladder cancer cells
  JOURNAL   Int J Oncol 59 (1) (2021)
   PUBMED   33982770
  REMARK    GeneRIF: Collagen type VIalpha1 and 2 repress the proliferation,
            migration and invasion of bladder cancer cells.
REFERENCE   3  (residues 1 to 1028)
  AUTHORS   Lin H, Yang Y, Hou C, Zheng J, Lv G, Mao R, Xu P, Chen S, Zhou Y,
            Wang P and Zhou D.
  TITLE     Identification of COL6A1 as the Key Gene Associated with
            Antivascular Endothelial Growth Factor Therapy in Glioblastoma
            Multiforme
  JOURNAL   Genet Test Mol Biomarkers 25 (5), 334-345 (2021)
   PUBMED   33970702
  REMARK    GeneRIF: Identification of COL6A1 as the Key Gene Associated with
            Antivascular Endothelial Growth Factor Therapy in Glioblastoma
            Multiforme.
REFERENCE   4  (residues 1 to 1028)
  AUTHORS   Zhang Y, Liu Z, Yang X, Lu W, Chen Y, Lin Y, Wang J, Lin S and Yun
            JP.
  TITLE     H3K27 acetylation activated-COL6A1 promotes osteosarcoma lung
            metastasis by repressing STAT1 and activating pulmonary
            cancer-associated fibroblasts
  JOURNAL   Theranostics 11 (3), 1473-1492 (2021)
   PUBMED   33391546
  REMARK    GeneRIF: H3K27 acetylation activated-COL6A1 promotes osteosarcoma
            lung metastasis by repressing STAT1 and activating pulmonary
            cancer-associated fibroblasts.
            Erratum:[Theranostics. 2022 May 28;12(10):4604-4605. PMID:
            35832076]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1028)
  AUTHORS   Foley,A.R., Mohassel,P., Donkervoort,S., Bolduc,V. and
            Bonnemann,C.G.
  TITLE     Collagen VI-Related Dystrophies
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301676
REFERENCE   6  (residues 1 to 1028)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301468
REFERENCE   7  (residues 1 to 1028)
  AUTHORS   Bidanset DJ, Guidry C, Rosenberg LC, Choi HU, Timpl R and Hook M.
  TITLE     Binding of the proteoglycan decorin to collagen type VI
  JOURNAL   J Biol Chem 267 (8), 5250-5256 (1992)
   PUBMED   1544908
REFERENCE   8  (residues 1 to 1028)
  AUTHORS   Saitta B, Wang YM, Renkart L, Zhang RZ, Pan TC, Timpl R and Chu ML.
  TITLE     The exon organization of the triple-helical coding regions of the
            human alpha 1(VI) and alpha 2(VI) collagen genes is highly similar
  JOURNAL   Genomics 11 (1), 145-153 (1991)
   PUBMED   1765372
REFERENCE   9  (residues 1 to 1028)
  AUTHORS   Chu ML, Pan TC, Conway D, Kuo HJ, Glanville RW, Timpl R, Mann K and
            Deutzmann R.
  TITLE     Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human
            type VI collagen reveals internal triplication of globular domains
            similar to the A domains of von Willebrand factor and two alpha
            2(VI) chain variants that differ in the carboxy terminus
  JOURNAL   EMBO J 8 (7), 1939-1946 (1989)
   PUBMED   2551668
REFERENCE   10 (residues 1 to 1028)
  AUTHORS   Chu ML, Conway D, Pan TC, Baldwin C, Mann K, Deutzmann R and Timpl
            R.
  TITLE     Amino acid sequence of the triple-helical domain of human collagen
            type VI
  JOURNAL   J Biol Chem 263 (35), 18601-18606 (1988)
   PUBMED   3198591
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU100220.1, CN369026.1,
            BC052575.1, BI769554.1, CN369002.1, CN369041.1, BM686857.1 and
            BM707144.1.
            On Feb 11, 2006 this sequence version replaced NP_001839.1.
            
            Summary: The collagens are a superfamily of proteins that play a
            role in maintaining the integrity of various tissues. Collagens are
            extracellular matrix proteins and have a triple-helical domain as
            their common structural element. Collagen VI is a major structural
            component of microfibrils. The basic structural unit of collagen VI
            is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI)
            chains. The alpha2(VI) and alpha3(VI) chains are encoded by the
            COL6A2 and COL6A3 genes, respectively. The protein encoded by this
            gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain).
            Mutations in the genes that code for the collagen VI subunits
            result in the autosomal dominant disorder, Bethlem myopathy.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC052575.1, GQ891373.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361866.8/ ENSP00000355180.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1028
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..1028
                     /product="collagen alpha-1(VI) chain precursor"
                     /note="collagen VI, alpha-1 polypeptide; collagen
                     alpha-1(VI) chain; alpha 1 (VI) chain (61 AA); collagen,
                     type VI, alpha 1; epididymis secretory sperm binding
                     protein"
                     /calculated_mol_wt=106478
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2070
     mat_peptide     20..1028
                     /product="collagen alpha-1(VI) chain"
                     /calculated_mol_wt=106478
     Region          20..256
                     /region_name="N-terminal globular domain"
                     /note="propagated from UniProtKB/Swiss-Prot (P12109.3)"
     Region          34..227
                     /region_name="vWA_collagen_alpha_1-VI-type"
                     /note="VWA_collagen alpha(VI) type: The extracellular
                     matrix represents a complex alloy of variable members of
                     diverse protein families defining structural integrity and
                     various physiological functions. The most abundant family
                     is the collagens with more than...; cd01480"
                     /db_xref="CDD:238757"
     Site            order(43,45,47,127,158)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238757"
     Site            order(45..47,49,127)
                     /site_type="active"
                     /note="integrin-collagen binding site [active]"
                     /db_xref="CDD:238757"
     Site            212
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P12109.3)"
     Region          256..309
                     /region_name="Collagen"
                     /note="Collagen triple helix repeat (20 copies);
                     pfam01391"
                     /db_xref="CDD:396114"
     Region          257..592
                     /region_name="triple-helical domain"
     Region          296..350
                     /region_name="Collagen"
                     /note="Collagen triple helix repeat (20 copies);
                     pfam01391"
                     /db_xref="CDD:396114"
     Region          <368..>520
                     /region_name="PHA03169"
                     /note="hypothetical protein; Provisional"
                     /db_xref="CDD:223003"
     Region          436..484
                     /region_name="Collagen"
                     /note="Collagen triple helix repeat (20 copies);
                     pfam01391"
                     /db_xref="CDD:396114"
     Region          504..556
                     /region_name="Collagen"
                     /note="Collagen triple helix repeat (20 copies);
                     pfam01391"
                     /db_xref="CDD:396114"
     Site            516
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P12109.3)"
     Site            537
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P12109.3)"
     Region          593..1028
                     /region_name="C-terminal globular domain"
     Region          612..807
                     /region_name="vWA_collagen_alpha_1-VI-type"
                     /note="VWA_collagen alpha(VI) type: The extracellular
                     matrix represents a complex alloy of variable members of
                     diverse protein families defining structural integrity and
                     various physiological functions. The most abundant family
                     is the collagens with more than...; cd01480"
                     /db_xref="CDD:238757"
     Site            order(621,623,625,701,729)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238757"
     Site            order(623..625,627,701)
                     /site_type="active"
                     /note="integrin-collagen binding site [active]"
                     /db_xref="CDD:238757"
     Site            804
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P12109.3)"
     Region          826..1011
                     /region_name="vWA_collagen_alpha_1-VI-type"
                     /note="VWA_collagen alpha(VI) type: The extracellular
                     matrix represents a complex alloy of variable members of
                     diverse protein families defining structural integrity and
                     various physiological functions. The most abundant family
                     is the collagens with more than...; cd01480"
                     /db_xref="CDD:238757"
     Site            order(835,837,839,914,944)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238757"
     Site            order(837..839,841,914)
                     /site_type="active"
                     /note="integrin-collagen binding site [active]"
                     /db_xref="CDD:238757"
     Site            896
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P12109.3)"
     CDS             1..1028
                     /gene="COL6A1"
                     /gene_synonym="BTHLM1; OPLL; UCHMD1"
                     /coded_by="NM_001848.3:82..3168"
                     /db_xref="CCDS:CCDS13727.1"
                     /db_xref="GeneID:1291"
                     /db_xref="HGNC:HGNC:2211"
                     /db_xref="MIM:120220"
ORIGIN      
        1 mraarallpl llqacwtaaq depetprava fqdcpvdlff vldtsesval rlkpygalvd
       61 kvksftkrfi dnlrdryyrc drnlvwnaga lhysdeveii qgltrmpggr dalkssvdav
      121 kyfgkgtytd caikkgleql lvggshlken kylivvtdgh plegykepcg gledavneak
      181 hlgvkvfsva itpdhleprl siiatdhtyr rnftaadwgq srdaeeaisq tidtivdmik
      241 nnveqvccsf ecqpargppg lrgdpgfege rgkpglpgek geagdpgrpg dlgpvgyqgm
      301 kgekgsrgek gsrgpkgykg ekgkrgidgv dgvkgemgyp glpgckgspg fdgiqgppgp
      361 kgdpgafglk gekgepgadg eagrpgssgp sgdegqpgep gppgekgeag degnpgpdga
      421 pgerggpger gprgtpgtrg prgdpgeagp qgdqgregpv gvpgdpgeag pigpkgyrgd
      481 egppgsegar gapgpagppg dpglmgerge dgpagngteg fpgfpgypgn rgapgingtk
      541 gypglkgdeg eagdpgddnn diaprgvkga kgyrgpegpq gppghqgppg pdeceildii
      601 mkmcscceck cgpidllfvl dssesiglqn feiakdfvvk vidrlsrdel vkfepgqsya
      661 gvvqyshsqm qehvslrsps irnvqelkea ikslqwmagg tftgealqyt rdqllppspn
      721 nrialvitdg rsdtqrdttp lnvlcspgiq vvsvgikdvf dfipgsdqln viscqglaps
      781 qgrpglslvk enyaelleda flknvtaqic idkkcpdytc pitfsspadi tilldgsasv
      841 gshnfdttkr fakrlaerfl tagrtdpahd vrvavvqysg tgqqrperas lqflqnytal
      901 asavdamdfi ndatdvndal gyvtrfyrea ssgaakkrll lfsdgnsqga tpaaiekavq
      961 eaqragieif vvvvgrqvne phirvlvtgk taeydvayge shlfrvpsyq allrgvfhqt
     1021 vsrkvalg
//
LOCUS       XP_047282850             573 aa            linear   PRI 20-MAR-2023
DEFINITION  retinoblastoma-binding protein 5 isoform X1 [Homo sapiens].
ACCESSION   XP_047282850
VERSION     XP_047282850.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426894.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..573
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..573
                     /product="retinoblastoma-binding protein 5 isoform X1"
                     /calculated_mol_wt=63231
     Region          64..99
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <73..356
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          105..141
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          146..181
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          189..225
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          236..281
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          289..326
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          333..356
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..573
                     /gene="RBBP5"
                     /gene_synonym="RBQ3; SWD1"
                     /coded_by="XM_047426894.1:224..1945"
                     /db_xref="GeneID:5929"
                     /db_xref="HGNC:HGNC:9888"
                     /db_xref="MIM:600697"
ORIGIN      
        1 mperasyppf rfvshcytlf vscmilamwy mchqlflcfv aesfgqnype eadgtldcis
       61 maltctfnrw gtllavgcnd griviwdflt rgiakiisah ihpvcslcws rdghklvsas
      121 tdnivsqwdv lsgdcdqrfr fpspilkvqy hprdqnkvlv cpmksapvml tlsdskhvvl
      181 pvdddsdlnv vasfdrrgey iytgnakgki lvlktdsqdl vasfrvttgt snttaiksie
      241 farkgscfli ntadriirvy dgreiltcgr dgepepmqkl qdlvnrtpwk kccfsgdgey
      301 ivagsarqha lyiweksign lvkilhgtrg ellldvawhp vrpiiasiss gvvsiwaqnq
      361 venwsafapd fkeldenvey eeresefdie dedksepeqt gadaaedeev dvtsvdpiaa
      421 fcssdeeled skallylpia pevedpeenp ygpppdavqt slmdegasse kkrqssadgs
      481 qppkkkpktt nielqgvpnd evhpllgvkg dgkskkkqag rpkgskgkek dspfkpklyk
      541 gdrglplegs akgkvqaels qpltaggais ell
//
LOCUS       XP_016857569             455 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase COP1 isoform X27 [Homo sapiens].
ACCESSION   XP_016857569
VERSION     XP_016857569.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002080.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..455
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..455
                     /product="E3 ubiquitin-protein ligase COP1 isoform X27"
                     /calculated_mol_wt=52162
     Region          <52..405
                     /region_name="PLN00181"
                     /note="protein SPA1-RELATED; Provisional"
                     /db_xref="CDD:177776"
     Region          123..166
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          171..208
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          215..251
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          256..294
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          300..339
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          343..365
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..455
                     /gene="COP1"
                     /gene_synonym="CFAP78; FAP78; RFWD2; RNF200"
                     /coded_by="XM_017002080.3:78..1445"
                     /db_xref="GeneID:64326"
                     /db_xref="HGNC:HGNC:17440"
                     /db_xref="MIM:608067"
ORIGIN      
        1 mqpnyrflwn ssrlqeeire ssiidsteys qppgfsgssq tkkqpwynst lasrrkrlta
       61 hfedleqcyf strmsrisdd srtasqldef qeclskftry nsvrplatls yasdlyngss
      121 ivssiefdrd cdyfaiagvt kkikvyeydt viqdavdihy penemtcnsk isciswssyh
      181 knllassdye gtvilwdgft gqrskvyqeh ekrcwsvdfn lmdpkllasg sddakvklws
      241 tnldnsvasi eakanvccvk fspssryhla fgcadhcvhy ydlrntkqpi mvfkghrkav
      301 syakfvsgee ivsastdsql klwnvgkpyc lrsfkghine knfvglasng dyiacgsenn
      361 slylyykgls ktlltfkfdt vksvldkdrk eddtnefvsa vcwralpdgy priawekqrs
      421 hlchiqswsh rwkfrsakvf ptvaaanlff lyrsd
//
LOCUS       XP_016871359             828 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 438 isoform X2 [Homo sapiens].
ACCESSION   XP_016871359
VERSION     XP_016871359.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017015870.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..828
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..828
                     /product="zinc finger protein 438 isoform X2"
                     /calculated_mol_wt=91706
     Region          <98..364
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          507..529
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          509..529
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          535..558
                     /region_name="zf-C2H2_4"
                     /note="C2H2-type zinc finger; pfam13894"
                     /db_xref="CDD:433562"
     Region          537..557
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..828
                     /gene="ZNF438"
                     /gene_synonym="bA330O11.1"
                     /coded_by="XM_017015870.3:1286..3772"
                     /db_xref="GeneID:220929"
                     /db_xref="HGNC:HGNC:21029"
ORIGIN      
        1 mqnsvsvppk degesnipsg tiqsrkglqn ksqfrtiapk ivpkvltsrm lpchspsrsd
       61 qvnlgpsins kllgmstqny almqvagqeg tfslvalphv asaqpiqkpr mslpenlklp
      121 ipryqpprns kasrkkpili fpksgcskap aqtqmcpqms pspphhpell ykpspfeevp
      181 sleqapasis taaltngsdh gdlrppvtnt hgslnppatp asstpeepak qdltalsgka
      241 hfvskitssk psavasekfk eqvdlaktmt nlsptilgna vqlissvpkg klpippysrm
      301 ktmevykiks daniagfslp gpkadcdkip sttegfnaat kvasrlpvpq vsqqsacesa
      361 fcpptkldln hktklnsgaa krkgrkrkvp deilafqgkr rkyiinkcrd gkervkndpq
      421 efrdqklgtl kkyrsimpkp imviptlasl aspttlqsqm lgglgqdvll nnsltpkylg
      481 ckqdnssspk pssvfrngfs gikkpwhrch vcnhhfqfkq hlrdhmntht nrrpyscric
      541 rksyvrpgsl sthmklhhge nrlkklmcce fcakvfghir vyfghlkevh rvvistepap
      601 selqpgdipk nrdmsvrgme gslerenksn leedfllnqa devklqikcg rcqitaqsfa
      661 eikfhlldvh geeiegrlqe gtfpgskgtq eelvqhaspd wkrhpergkp ekvhsssees
      721 hacprlkrql hlhqngveml menegpqsgt nkpretcqgp ecpglhtfll wshsgfncll
      781 caemlgrked llhhwkhqhn cedpsklwai lntvsnqgvi elsseaek
//
LOCUS       XP_016871877             416 aa            linear   PRI 20-MAR-2023
DEFINITION  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X2
            [Homo sapiens].
ACCESSION   XP_016871877
VERSION     XP_016871877.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017016388.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..416
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..416
                     /product="chondroitin sulfate
                     N-acetylgalactosaminyltransferase 2 isoform X2"
                     /calculated_mol_wt=48162
     Region          75..>389
                     /region_name="Glyco_tranf_GTA_type"
                     /note="Glycosyltransferase family A (GT-A) includes
                     diverse families of glycosyl transferases with a common
                     GT-A type structural fold; cl11394"
                     /db_xref="CDD:448240"
     CDS             1..416
                     /gene="CSGALNACT2"
                     /gene_synonym="beta4GalNAcT; ChGn-2; CHGN2; GALNACT-2;
                     GALNACT2; PRO0082"
                     /coded_by="XM_017016388.3:377..1627"
                     /db_xref="GeneID:55454"
                     /db_xref="HGNC:HGNC:24292"
                     /db_xref="MIM:616616"
ORIGIN      
        1 mprrglilht rthwlllgla llcslvlfmy llecapqtdg naslpgvvge nygkeyyqal
       61 lqeqeehyqt ratslkrqia qlkqelqems ekmrslqerr nvgangigyq snkeqapsdl
      121 leflhsqidk aevsigaklp seygvipfes ftlmkvfqle mgltrhpeek pvrkdkrdel
      181 vevieaglev innpdeddeq edeegplgek lifnendfve gyyrterdkg tqyelffkka
      241 dlteyrhvtl frpfgplmkv ksemiditrs iiniivplae rteafvqfmq nfrdvcihqd
      301 kkihltvvyf gkeglskvks ilesvtsesn fhnytlvsln eefnrgrgln vgarawdkge
      361 vlmffcdvdi yfsaeflnsc rlnaepgsqk gfwllarfwl wndlsvsfrf pdhwwi
//
LOCUS       XP_016872587             744 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 3 isoform X3 [Homo sapiens].
ACCESSION   XP_016872587
VERSION     XP_016872587.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017098.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..744
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..744
                     /product="tripartite motif-containing protein 3 isoform
                     X3"
                     /calculated_mol_wt=80699
     Region          16..63
                     /region_name="RING-HC_TRIM3"
                     /note="RING finger, HC subclass, found in tripartite
                     motif-containing protein 3 (TRIM3); cd16768"
                     /db_xref="CDD:438424"
     Site            order(22,25,37,39,42,45,59,62)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:438424"
     Region          107..153
                     /region_name="Bbox2_TRIM3_C-VII"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein 3 (TRIM3); cd19825"
                     /db_xref="CDD:380883"
     Region          158..284
                     /region_name="BBC"
                     /note="B-Box C-terminal domain; smart00502"
                     /db_xref="CDD:128778"
     Region          322..419
                     /region_name="IG_FLMN"
                     /note="Filamin-type immunoglobulin domains; smart00557"
                     /db_xref="CDD:214720"
     Region          471..744
                     /region_name="NHL_TRIM2_like"
                     /note="NHL repeat domain of the tripartite
                     motif-containing protein 2 (TRIM2) and related proteins;
                     cd14960"
                     /db_xref="CDD:271330"
     Region          489..528
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271330"
     Region          536..575
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271330"
     Region          578..615
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271330"
     Region          622..663
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271330"
     Region          669..711
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271330"
     Region          714..740
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271330"
     CDS             1..744
                     /gene="TRIM3"
                     /gene_synonym="BERP; HAC1; RNF22; RNF97"
                     /coded_by="XM_017017098.3:215..2449"
                     /db_xref="GeneID:10612"
                     /db_xref="HGNC:HGNC:10064"
                     /db_xref="MIM:605493"
ORIGIN      
        1 makredspgp evqpmdkqfl vcsicldryq cpkvlpclht fcerclqnyi paqsltlscp
       61 vcrqtsilpe qgvsalqnnf fisslmeamq qapdgahdpe dphplsvvag rplscpnheg
      121 ktmefyceac etamcgecra gehrehgtvl lrdvveqhka alqrqleavr grlpqlsaai
      181 alvggisqql qerkaealaq isaafedleq alqqrkqalv sdleticgak qkvlqsqldt
      241 lrqgqehigs scsfaeqalr lgsapevllv rkhmrerlaa laaqafperp henaqlelvl
      301 evdglrrsvl nlgallttsa tahetvatge glrqalvgqp asltvttkdk dgrlvrtgsa
      361 elraeitgpd gtrlpvpvvd hkngtyelvy tartegelll svllygqpvr gspfrvralr
      421 pgdlppspdd vkrrvkspgg pgshvrqkav rrpssmystg gkrkdnpied elvfrvgsrg
      481 rekgeftnlq gvsaassgri vvadsnnqci qvfsnegqfk frfgvrgrsp gqlqrptgva
      541 vdtngdiiva dydnrwvsif spegkfktki gagrlmgpkg vavdrnghii vvdnksccvf
      601 tfqpngklvg rfggrgatdr hfagphfvav nnkneivvtd fhnhsvkvys adgeflfkfg
      661 shgegngqfn aptgvavdsn gniivadwgn sriqvfdssg sflsyintsa eplygpqgla
      721 ltsdghvvva dagnhcfkay rylq
//
LOCUS       XP_016873412            1400 aa            linear   PRI 20-MAR-2023
DEFINITION  remodeling and spacing factor 1 isoform X2 [Homo sapiens].
ACCESSION   XP_016873412
VERSION     XP_016873412.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017923.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1400
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1400
                     /product="remodeling and spacing factor 1 isoform X2"
                     /calculated_mol_wt=159774
     Region          55..101
                     /region_name="WHIM1"
                     /note="WSTF, HB1, Itc1p, MBD9 motif 1; pfam15612"
                     /db_xref="CDD:434812"
     Region          852..897
                     /region_name="PHD_RSF1"
                     /note="PHD finger found in Remodeling and spacing factor 1
                     (Rsf-1); cd15543"
                     /db_xref="CDD:277018"
     Site            order(852,864..868,872,892)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277018"
     Region          874..>927
                     /region_name="BAH"
                     /note="or Bromo Adjacent Homology domain (also called ELM1
                     and BAM for Bromo Adjacent Motif). BAH domains have first
                     been described as domains found in the polybromo protein
                     and Yeast Rsc1/Rsc2 (Remodeling of the Structure of
                     Chromatin). They also occur in...; cl02608"
                     /db_xref="CDD:413397"
     CDS             1..1400
                     /gene="RSF1"
                     /gene_synonym="HBXAP; p325; RSF-1; XAP8"
                     /coded_by="XM_017017923.2:18..4220"
                     /db_xref="GeneID:51773"
                     /db_xref="HGNC:HGNC:18118"
                     /db_xref="MIM:608522"
ORIGIN      
        1 mpcflrystv degtweggke mipkelvelh lklmrkigks vtadrwekyl ikicqefnst
       61 wawemekkgy lemsveckla llkylcecqf ddnlkfknii needadtmrl qpigrdkdgl
      121 mywyqldqdh nvrmyieeqd dqdgsswkci vrnrnelaet lallkaqidp vllknssqqd
      181 nssrespsle deetkkeeet pkqeeqkese kmkseeqpmd lenrstanvl eettvkkeke
      241 dekelvklpv ivklekplpe neekkiikee sdsfkenvkp ikvevkecra dpkdtkssme
      301 kpvaqeperi efggnikssh eiteksteet eklkndqqak iplkkreikl sddfdspvkg
      361 plcksvtptk eflkdeikqe eetckristi talghegkql vngevsderv apnfktepie
      421 tkfyetkees yspskdrnii tegngtesln svitsmktge leketaplrk dadssisvle
      481 ihsqkaqiee pdppemetsl dssemakdls sktalsstes ctmkgeeksp ktkkdkrppi
      541 leclekleks kktfldkdaq rlspipeevp kstlesekpg speaaetspp sniidhcekl
      601 asekevvecq ststvggqsv kkvdletlke dseftkvemd nldnaqtsgi eepsetkgsm
      661 qkskfkyklv peeettasen teitserqke gikltiriss rkkkpdsppk vlepenkqek
      721 tekeeektnv grtlrrspri srptakvaei rdqkadkkrg egedeveees talqktdkke
      781 ilkksekdtn skvskvkpkg kvrwtgsrtr grwkyssnde segsgsekss aaseeeeeke
      841 seeailaddd epckkcglpn hpelillcds cdsgyhtacl rpplmiipdg ewfcppcqhk
      901 llcekleeql qdldvalkkk eraerrkerl vyvgisieni ippqepdfse dqeekkkdsk
      961 kskanllerr strtrkcisy rfdefdeaid eaieddikea dgggvgrgkd istitghrgk
     1021 distildeer kenkrpqraa aarrkkrrrl ndldsdsnld eeesedefki sdgsqdefvv
     1081 sdenpdesee dppsnddsdt dfcsrrlrrh psrpmrqsrr lrrktpkkky sdddeeeese
     1141 ensrdsesdf sddfsddfve trrrrsrrnq krqinykeds esdgsqkslr rgkeirrvhk
     1201 rrlsssesee sylsknsedd elakeskrsv rkrgrstdey seadeeeeee egkpsrkrlh
     1261 rietdeeesc dnahgdanqp ardsqprvlp seqestkkpy riesdeeedf envgkvgspl
     1321 dyslvdlpst ngqspgkaie nligkpteks qtpkdnstas aslasngtsg gqeagapeee
     1381 edellrvtdl vdyvcnseql
//
LOCUS       XP_011536356             982 aa            linear   PRI 20-MAR-2023
DEFINITION  bridge-like lipid transfer protein family member 3B isoform X5
            [Homo sapiens].
ACCESSION   XP_011536356
VERSION     XP_011536356.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011538054.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..982
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..982
                     /product="bridge-like lipid transfer protein family member
                     3B isoform X5"
                     /calculated_mol_wt=109925
     CDS             1..982
                     /gene="BLTP3B"
                     /gene_synonym="SHIP164; SHIP164A; UHRF1BP1L"
                     /coded_by="XM_011538054.4:154..3102"
                     /db_xref="GeneID:23074"
                     /db_xref="HGNC:HGNC:29102"
                     /db_xref="MIM:619811"
ORIGIN      
        1 miccnkksly lpqemsavyi efteyyypdg kdfpipspnl ysqlnalqft vdersilwln
       61 qflldlkqsl nqfmavykln dnsksdehvd vrvdglmlkf vipsevksec hqdqpraisi
      121 qssemiatnt rhcpncrhsd lealfqdfkd cdffsktyts fpkscdnfnl lhpifqrhah
      181 eqdtkmheiy kgnitpqlnk ntlktsaatd vwavyfsqfw idyegmksgk grpisfvdsf
      241 plsiwicqpt ryaesqkepq tcnqvslnts qsessdlagr lkrkkllkey ystesepltn
      301 ggqkpsssdt ffrfspssse adihllvhvh khvsmqinhy qyllllflhe slillsenlr
      361 kdveavtgsp asqtsicigi llrsaelall lhpvdqantl kspvsesvsp vvpdylpten
      421 gdflsskrkq isrdinrirs vtvnhmsdnr smsvdlship lkdpllfksa sdtnlqkgis
      481 fmdylsdkhl gkisedessg lvyksgsgei gsetsdkkds fytdsssiln yredsnilsf
      541 dsdgnqnils stltskgnet iesifkaedl lpeaaslsen ldiskeetpp vrtlksqssl
      601 sgkpkercpp nlaplcvsyk nmkrsssqms ldtisldsmi leeqllesdg sdshmflekg
      661 nkknsttnyr gtaesvnaga nlqnygetsp daistnsega qenhddlmsv vvfkitgvng
      721 eidirgedte iclqvnqvtp dqlgnislrh ylcnrpvgsd qkavihskss peislrfesg
      781 pgavihslla ekngflqchi enfsteflts slmniqhfle detvatvmpm kiqvsntkin
      841 lkddsprsst vslepapvtv hidhlvvers ddgsfhirds hmlntgndlk envksdsvll
      901 tsgkydlkkq rsvtqatqts pgvpwpsqsa nfpefsfdft reqlmeenes lkqelakakm
      961 alaeahlekd allhhikkmt ve
//
LOCUS       XP_047285079            1632 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF21A isoform X11 [Homo sapiens].
ACCESSION   XP_047285079
VERSION     XP_047285079.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429123.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1632
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1632
                     /product="kinesin-like protein KIF21A isoform X11"
                     /calculated_mol_wt=181871
     Region          8..372
                     /region_name="KISc_KIF4"
                     /note="Kinesin motor domain, KIF4-like subfamily; cd01372"
                     /db_xref="CDD:276823"
     Site            order(17,88,91,93..96,274)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276823"
     Site            order(324,327,330)
                     /site_type="other"
                     /note="microtubule interaction site [polypeptide binding]"
                     /db_xref="CDD:276823"
     Region          <364..791
                     /region_name="Cast"
                     /note="RIM-binding protein of the cytomatrix active zone;
                     pfam10174"
                     /db_xref="CDD:431111"
     Region          <631..968
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          900..981
                     /region_name="Rcc_KIF21A"
                     /note="regulatory coiled-coil domain found in kinesin-like
                     protein KIF21A; cd22263"
                     /db_xref="CDD:410204"
     Site            order(903..904,907..908,910..911,914..915,917..918,
                     921..922,924..925,928..929,931..932,935..936,939,942..943,
                     949..950,952..953,956..957,959..960,963..964,966..967,
                     970..971,973..974,977..978)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:410204"
     Region          1297..1610
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(1304,1320,1324,1330..1331,1343..1344,1362,
                     1371..1372,1385..1386,1425,1435..1436,1449,1469,1474,
                     1480..1481,1499..1500,1516,1520,1526..1527,1540..1541,
                     1558,1563,1569..1570,1582..1583,1599,1603,1609..1610)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          1348..1407
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1413..1448
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1453..1497
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1505..1538
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1545..1581
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..1632
                     /gene="KIF21A"
                     /gene_synonym="CFEOM1; FEOM1; FEOM3A"
                     /coded_by="XM_047429123.1:151..5049"
                     /db_xref="GeneID:55605"
                     /db_xref="HGNC:HGNC:19349"
                     /db_xref="MIM:608283"
ORIGIN      
        1 mlgapdessv rvavrirpql akekiegchi ctsvtpgepq vflgkdkaft fdyvfdidsq
       61 qeqiyiqcie kliegcfegy natvfaygqt gagktytmgt gfdvniveee lgiisravkh
      121 lfksieekkh iaiknglpap dfkvnaqfle lyneevldlf dttrdidaks kksnirihed
      181 stggiytvgv ttrtvntese mmqclklgal srttastqmn vqssrshaif tihvcqtrvc
      241 pqidadnatd nkiisesaqm nefetltakf hfvdlagser lkrtgatger akegisincg
      301 llalgnvisa lgdkskrath vpyrdskltr llqdslggns qtimiacvsp sdrdfmetln
      361 tlkyanrarn iknkvmvnqd rasqqinalr seitrlqmel meyktgkrii deegvesind
      421 mfhenamlqt ennnlrvrik amqetvdalr sritqlvsdq anhvlarage gneeisnmih
      481 syikeiedlr aklleseavn enlrknltra tarapyfsgs stfsptilss dketieiidl
      541 akkdleklkr kekrkkksva gkedntdtdq ekkeekgvse rennelevee sqevsdhede
      601 eeeeeeeedd idggessdes dsesdekany qadlanitce iaikqklide lensqkrlqt
      661 lkkqyeeklm mlqhkirdtq lerdqvlqnl gsvesyseek akkvrseyek klqamnkelq
      721 rlqaaqkeha rllknqsqye kqlkklqqdv memkktkvrl mkqmkeeqek arltesrrnr
      781 eiaqlkkdqr krdvtalrrq vrpmsdkvag kvtrklsssd apaqdtgssa aavetdasrt
      841 gaqqkmripv arvqalptpa tngnrkkyqr kgltgrvfis ktarmkwqll errvtdiimq
      901 kmtisnmead mnrllkqree ltkrreklsk rrekivkeng egdknvanin eemesltani
      961 dyindsisdc qanimqmeea keegetldvt avinactlte arylldhfls mginkglqaa
     1021 qkeaqikvle grlkqteits atqnqllfhm lkekaelnpe ldallghalq envedstded
     1081 aplnspgseg stlssdlmkl cgevkpknka rrrtttqmel lyadsselas dtstgdaslp
     1141 gpltpvaegq eigmntetsg tsarekelsp ppglpskigs isrqsslsek kipepspvtr
     1201 rkayekaeks kakeqkhsds gtseaslspp ssppsrprne lnvfnrltvs qgntsvqqdk
     1261 sdesdsslse vhsrssrrgi inpfpaskgi rafplqcihi aeghtkavlc vdstddllft
     1321 gskdrtckvw nlvtgqeims lgghpnnvvs vkycnytslv ftvstsyikv wdirdsakci
     1381 rtltssgqvt lgdacsasts rtvaipsgen qinqialnpt gtflyaasgn avrmwdlkrf
     1441 qstgkltghl gpvmcltvdq issgqdliit gskdhyikmf dvtegalgtv spthnfepph
     1501 ydgiealtiq gdnlfsgsrd ngikkwdltq kdllqqvpna hkdwvcalgv vpdhpvllsg
     1561 crggilkvwn mdtfmpvgem kghdspinai cvnsthifta addrtvriwk arnlqdgqis
     1621 dtgdlgedia sn
//
LOCUS       XP_011536961             640 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 9 isoform X4 [Homo sapiens].
ACCESSION   XP_011536961
VERSION     XP_011536961.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011538659.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..640
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..640
                     /product="rho GTPase-activating protein 9 isoform X4"
                     /calculated_mol_wt=70739
     Region          26..82
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:450141"
     Site            order(31,33,36,42,60..61,79,81..82)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212690"
     Region          <122..>312
                     /region_name="PHA03377"
                     /note="EBNA-3C; Provisional"
                     /db_xref="CDD:177614"
     Region          324..436
                     /region_name="PH_ARHGAP9-like"
                     /note="Beta-spectrin pleckstrin homology (PH) domain;
                     cd13233"
                     /db_xref="CDD:270053"
     Site            order(332,343..345,396..398)
                     /site_type="other"
                     /note="non-cannonial phosphoinositide binding site
                     [chemical binding]"
                     /db_xref="CDD:270053"
     Region          521..>639
                     /region_name="RhoGAP"
                     /note="GTPase-activator protein (GAP) for Rho-like
                     GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases.
                     Small GTPases (G proteins) cluster into distinct families,
                     and all act as molecular switches, active in their
                     GTP-bound form but inactive when bound to...; cl02570"
                     /db_xref="CDD:445838"
     Site            559
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:238090"
     CDS             1..640
                     /gene="ARHGAP9"
                     /gene_synonym="10C; RGL1"
                     /coded_by="XM_011538659.3:204..2126"
                     /db_xref="GeneID:64333"
                     /db_xref="HGNC:HGNC:14130"
                     /db_xref="MIM:610576"
ORIGIN      
        1 mlssrwwpss wgilglgprs pprgsqlcal yaftytgadg qqvslaegdr flllrktnsd
       61 wwlarrleap stsrpifvpa aymieesips qspttvipgq llwtpgpklf hgsleelsqa
      121 lpsraqasse qppplprkmc rsvstdnlsp sllkpfqegp sgrslsqedl pseasastag
      181 pqplmseppv ycnlvdlrrc prspppgpac pllqrldawe qhldpnsgrc fyinsltgck
      241 swkpprrsrs etnpgsmegt qtlkrnndvl qpqakgfrsd tgtpepldpq gslslsqrts
      301 qldppalqap rplpqllddp heveksglln mtkiaqggrk lrknwgpswv vltgnslvfy
      361 reppptapss gwgpagsrpe ssvdlrgaal ahgrhlssrr nvlhirtipg hefllqsdhe
      421 telrawhral rtvierldre nplelrlsgs gpaelsaged eeeeselvsk pllrlssrrs
      481 sirgpegteq nrvrnklkrl iakrpplqsl qergllrdqv fgcqleslcq regdtvpsfl
      541 rlciaavdkr gldvdgiyrv sgnlavvqkl rflvdrerav tsdgryvfpe qpgqegrldl
      601 dstewddihv vtgalklflr elpqplvppl llphfraalg
//
LOCUS       XP_047287486             542 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit
            gamma isoform isoform X2 [Homo sapiens].
ACCESSION   XP_047287486
VERSION     XP_047287486.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431530.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..542
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..542
                     /product="serine/threonine-protein phosphatase 2A 56 kDa
                     regulatory subunit gamma isoform isoform X2"
                     /calculated_mol_wt=62868
     Region          52..455
                     /region_name="B56"
                     /note="Protein phosphatase 2A regulatory B subunit (B56
                     family); pfam01603"
                     /db_xref="CDD:426341"
     CDS             1..542
                     /gene="PPP2R5C"
                     /gene_synonym="B56G; B56gamma; PR61G"
                     /coded_by="XM_047431530.1:149..1777"
                     /db_xref="GeneID:5527"
                     /db_xref="HGNC:HGNC:9311"
                     /db_xref="MIM:601645"
ORIGIN      
        1 mrptpmglss pwsfsifegt speepsspkv pppllpellv lifgglqgrd vppadqeklf
       61 iqklrqccvl fdfvsdplsd lkwkevkraa lsemveyith nrnvitepiy pevvhmfavn
      121 mfrtlppssn ptgaefdpee deptleaawp hlqlvyeffl rflespdfqp niakkyidqk
      181 fvlqllelfd sedprerdfl kttlhriygk flglrayirk qinnifyrfi yetehhngia
      241 elleilgsii ngfalplkee hkifllkvll plhkvkslsv yhpqlaycvv qflekdstlt
      301 epvvmallky wpkthspkev mflneleeil dviepsefvk imeplfrqla kcvssphfqv
      361 aeralyywnn eyimslisdn aakilpimfp slyrnskthw nktihgliyn alklfmemnq
      421 klfddctqqf kaeklkeklk mkereeawvk ienlakanpq ytvysqastm sipvametdg
      481 plfedvqmlr ktvkdeahqa qkdpkkdrpl arrkselpqd phtkkaleah cradelasqd
      541 gr
//
LOCUS       XP_047287497             449 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit
            gamma isoform isoform X11 [Homo sapiens].
ACCESSION   XP_047287497
VERSION     XP_047287497.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431541.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..449
                     /product="serine/threonine-protein phosphatase 2A 56 kDa
                     regulatory subunit gamma isoform isoform X11"
                     /calculated_mol_wt=52519
     Region          1..362
                     /region_name="B56"
                     /note="Protein phosphatase 2A regulatory B subunit (B56
                     family); pfam01603"
                     /db_xref="CDD:426341"
     CDS             1..449
                     /gene="PPP2R5C"
                     /gene_synonym="B56G; B56gamma; PR61G"
                     /coded_by="XM_047431541.1:245..1594"
                     /db_xref="GeneID:5527"
                     /db_xref="HGNC:HGNC:9311"
                     /db_xref="MIM:601645"
ORIGIN      
        1 mveyithnrn vitepiypev vhmfavnmfr tlppssnptg aefdpeedep tleaawphlq
       61 lvyefflrfl espdfqpnia kkyidqkfvl qllelfdsed prerdflktt lhriygkflg
      121 lrayirkqin nifyrfiyet ehhngiaell eilgsiingf alplkeehki fllkvllplh
      181 kvkslsvyhp qlaycvvqfl ekdstltepv vmallkywpk thspkevmfl neleeildvi
      241 epsefvkime plfrqlakcv ssphfqvaer alyywnneyi mslisdnaak ilpimfpsly
      301 rnskthwnkt ihgliynalk lfmemnqklf ddctqqfkae klkeklkmke reeawvkien
      361 lakanpqytv ysqastmsip vametdgplf edvqmlrktv kdeahqaqkd pkkdrplarr
      421 kselpqdpht kkaleahcra delasqdgr
//
LOCUS       XP_047287719             471 aa            linear   PRI 20-MAR-2023
DEFINITION  tryptophan--tRNA ligase, cytoplasmic isoform X1 [Homo sapiens].
ACCESSION   XP_047287719
VERSION     XP_047287719.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431763.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..471
                     /product="tryptophan--tRNA ligase, cytoplasmic isoform X1"
                     /calculated_mol_wt=53035
     Region          12..64
                     /region_name="WHEP-TRS"
                     /note="WHEP-TRS domain; pfam00458"
                     /db_xref="CDD:425693"
     Site            order(19,21,24,29,34,38,46,54)
                     /site_type="other"
                     /note="tRNA binding site [nucleotide binding]"
                     /db_xref="CDD:238473"
     Region          85..466
                     /region_name="PLN02486"
                     /note="aminoacyl-tRNA ligase"
                     /db_xref="CDD:178104"
     Site            order(159..163,170,172..173,176,194,199,237,280,284,287,
                     307,309..310,312..313,316,339,349..350,352)
                     /site_type="active"
                     /db_xref="CDD:173903"
     Site            170..173
                     /site_type="other"
                     /note="HIGH motif"
                     /db_xref="CDD:173903"
     Site            order(198,201..202,247..248,250..252,255..256,258..261,
                     263..264,276,278..279,282..283)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:173903"
     Site            349..353
                     /site_type="other"
                     /note="KMSKS motif"
                     /db_xref="CDD:173903"
     CDS             1..471
                     /gene="WARS1"
                     /gene_synonym="GAMMA-2; HMN9; IFI53; IFP53; WARS"
                     /coded_by="XM_047431763.1:272..1687"
                     /db_xref="GeneID:7453"
                     /db_xref="HGNC:HGNC:12729"
                     /db_xref="MIM:191050"
ORIGIN      
        1 mpnsepasll elfnsiatqg elvrslkagn askdeidsav kmlvslkmsy kaaagedyka
       61 dcppgnpapt snhgpdatea eedfvdpwtv qtssakgidy dklivrfgss kidkelinri
      121 eratgqrphh flrrgiffsh rdmnqvlday enkkpfylyt grgpsseamh vghlipfift
      181 kwlqdvfnvp lviqmtddek ylwkdltldq aysyavenak diiacgfdin ktfifsdldy
      241 mgmssgfykn vvkiqkhvtf nqvkgifgft dsdcigkisf paiqaapsfs nsfpqifrdr
      301 tdiqclipca idqdpyfrmt rdvaprigyp kpallhstff palqgaqtkm sasdpnssif
      361 ltdtakqikt kvnkhafsgg rdtieehrqf ggncdvdvsf myltffledd dkleqirkdy
      421 tsgamltgel kkalievlqp liaehqarrk evtdeivkef mtprklsfdf q
//
LOCUS       XP_011535646             541 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 20 isoform X12 [Homo sapiens].
ACCESSION   XP_011535646
VERSION     XP_011535646.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011537344.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..541
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..541
                     /product="WD repeat-containing protein 20 isoform X12"
                     /calculated_mol_wt=59213
     Region          99..>264
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          103..168
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          173..209
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          216..249
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..541
                     /gene="WDR20"
                     /gene_synonym="Bun107; DMR"
                     /coded_by="XM_011537344.4:230..1855"
                     /db_xref="GeneID:91833"
                     /db_xref="HGNC:HGNC:19667"
                     /db_xref="MIM:617741"
ORIGIN      
        1 mwagsctsis trgsarqshe vgrteilisv lteaadlskp idkriykgtq ptchdfnhlt
       61 ataesvsllv gfsagqvqli dpikketskl fneerlidks rvtcvkwvpg seslflvahs
      121 sgnmylynve htcgttaphy qllkqgesfa vhtckskstr npllkwtvge galnefafsp
      181 dgkflacvsq dgflrvfnfd svelhgtmks yfggllcvcw spdgkyivtg geddlvtvws
      241 fvdcrviarg hghkswvsvv afdpyttsve egdpmefsgs dedfqdllhf grdranstqs
      301 rlskrnstds rpvsvtyrfg svgqdtqlcl wdltedilfp hqplsrarth tnvmnatspp
      361 agsngnsvtt pgnsvppplp rsnslphsav snagskssvm dgaiasgvsk fatlslhdrk
      421 erhhekdhkr nhsmghissk ssdklnlvtk tktdpaktlg tplcprmedv plleplickk
      481 iaherltvli fledcivtac qegfictwgr pgkvgsqrks tpidseqgql phsvcflsls
      541 r
//
LOCUS       XP_006720608             715 aa            linear   PRI 20-MAR-2023
DEFINITION  NT-3 growth factor receptor isoform X5 [Homo sapiens].
ACCESSION   XP_006720608
VERSION     XP_006720608.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006720545.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..715
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..715
                     /product="NT-3 growth factor receptor isoform X5"
                     /calculated_mol_wt=79656
     Region          31..>51
                     /region_name="LRRNT"
                     /note="Leucine rich repeat N-terminal domain; pfam01462"
                     /db_xref="CDD:396168"
     Region          103..160
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          105..128
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          129..151
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          152..164
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          163..208
                     /region_name="TPKR_C2"
                     /note="Tyrosine-protein kinase receptor C2 Ig-like domain;
                     pfam16920"
                     /db_xref="CDD:435654"
     Region          214..299
                     /region_name="ig"
                     /note="Immunoglobulin domain; pfam00047"
                     /db_xref="CDD:395002"
     Region          227..231
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          240..244
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          266..270
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          281..286
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          294..297
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          304..396
                     /region_name="IgI_TrKABC_d5"
                     /note="Fifth domain (immunoglobulin-like) of Trk receptors
                     TrkA, TrkB, and TrkC; member of the I-set of Ig
                     superfamily (IgSF) domains; cd04971"
                     /db_xref="CDD:409360"
     Region          305..311
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409360"
     Region          313..316
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409360"
     Region          319..327
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409360"
     Site            328
                     /site_type="other"
                     /note="interdomain interface [polypeptide binding]"
                     /db_xref="CDD:409360"
     Region          330..337
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409360"
     Region          340..343
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409360"
     Region          348..354
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409360"
     Site            order(353,366..367,370)
                     /site_type="other"
                     /note="receptor binding site [polypeptide binding]"
                     /db_xref="CDD:409360"
     Region          358..366
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409360"
     Region          374..382
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409360"
     Region          385..393
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409360"
     Region          532..>712
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(544..547,550,552,570,572,601,617..620,679,683..684,
                     686,696..697)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     CDS             1..715
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /coded_by="XM_006720545.5:27..2174"
                     /db_xref="GeneID:4916"
                     /db_xref="HGNC:HGNC:8033"
                     /db_xref="MIM:191316"
ORIGIN      
        1 mdvslcpakc sfwrifllgs vwldyvgsvl acpancvcsk teincrrpdd gnlfpllegq
       61 dsgnsngnas initdisrni tsihienwrs lhtlnavdme lytglqklti knsglrsiqp
      121 rafaknphlr yinlssnrlt tlswqlfqtl slrelqleqn ffncscdirw mqlwqeqgea
      181 klnsqnlyci nadgsqlplf rmnisqcdlp eisvshvnlt vregdnavit cngsgsplpd
      241 vdwivtglqs inthqtnlnw tnvhainltl vnvtsedngf tltciaenvv gmsnasvalt
      301 vyypprvvsl eepelrlehc iefvvrgnpp ptlhwlhngq plreskiihv eyyqegeise
      361 gcllfnkpth ynngnytlia knplgtanqt inghflkepf pestdnfilf devsptppit
      421 vthkpeedtf gvsiavglaa facvllvvlf vminkygrrs kfgmkgpvav isgeedsasp
      481 lhhinhgitt pssldagpdt vvigmtripv ienpqyfrqg hnchkpdtyv qhikrrdivl
      541 krelgegafg kvflaecynl sptkdkmlva vkalkdptla arkdfqreae lltnlqhehi
      601 vkfygvcgdg dplimvfeym khgdlnkflr ahgpdamilv dgqprqakge lglsqmlhia
      661 sqiasgmvyl asqhfvhrdl atrnclvgan llvkigdfgm srdvystdyy rvvqa
//
LOCUS       XP_047289335            1471 aa            linear   PRI 20-MAR-2023
DEFINITION  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate
            kinase 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047289335
VERSION     XP_047289335.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433379.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1471
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1471
                     /product="inositol hexakisphosphate and
                     diphosphoinositol-pentakisphosphate kinase 1 isoform X2"
                     /calculated_mol_wt=163382
     Region          55..144
                     /region_name="PPIP5K2_N"
                     /note="Diphosphoinositol pentakisphosphate kinase 2
                     N-terminal domain; pfam18086"
                     /db_xref="CDD:436261"
     Region          390..898
                     /region_name="His_Phos_2"
                     /note="Histidine phosphatase superfamily (branch 2);
                     pfam00328"
                     /db_xref="CDD:395259"
     CDS             1..1471
                     /gene="PPIP5K1"
                     /gene_synonym="HISPPD2A; hsVIP1; IP6K; IPS1; VIP1"
                     /coded_by="XM_047433379.1:205..4620"
                     /db_xref="GeneID:9677"
                     /db_xref="HGNC:HGNC:29023"
                     /db_xref="MIM:610979"
ORIGIN      
        1 mwsltasege sttahfflga gdeglgtrgi gmrpeesdse lledeedevp pepqiivgic
       61 amtkkskskp mtqilerlcr fdyltvvilg edvilnepve nwpschclis fhskgfpldk
      121 avaysklrnp flindlamqy yiqdrrevyr ilqeegidlp ryavlnrdpa rpeecnlieg
      181 edqvevngav fpkpfvekpv saedhnvyiy ypssagggsq rlfrkigsrs svyspessvr
      241 ktgsyiyeef mptdgtdvkv ytvgpdyaha earkspaldg kverdsegke irypvmltam
      301 eklvarkvcv afkqtvcgfd llranghsfv cdvngfsfvk nsmkyyddca kilgntimre
      361 lapqfqipws ipteaedipi vpttsgtmme lrcviaiirh gdrtpkqkmk mevkhprffa
      421 lfekhggykt gklklkrpeq lqevlditrl llaelekepg geieektgkl eqlksvlemy
      481 ghfsginrkv qltyyphgvk asnegqdpqr etlapslllv lkwggeltpa grvqaeelgr
      541 afrcmypggq gdyagfpgcg llrlhstfrh dlkiyasdeg rvqmtaaafa kgllalegel
      601 tpilvqmvks anmnglldsd gdslsscqhr vkarlhhilq qdapfgpedy dqlaptrsts
      661 llnsmtiiqn pvkvcdqvfa lienlthqir ermqdprsvd lqlyhsetle lmlqrwskle
      721 rdfrqksgry diskipdiyd cvkydvqhng slglqgtael lrlskaladv vipqeygisr
      781 eekleiavgf clpllrkill dlqrthedey srgvlspgrh vrtrlyftse shvhsllsvf
      841 rygglldetq daqwqraldy lsaiselnym tqivimlyed ntqdplseer fhvelhfspg
      901 vkgveeegsa pagcgfrpas seneemktnq gsmenlcpgk asdepdralq tspqppegpg
      961 lprrsplirn rkagsmevmn mqctgnldli plrgrrcrrs gdlpqpslai glqpravstt
     1021 hlasctqvls etsssrpggy rlfsssrppt emkqsglgsq ctglfsttvl ggsssapnlq
     1081 dyarshgkkl ppaslkhrde llfvpavkrf svsfakhptn gfegcsmvpt iypletlhna
     1141 lslrqvsefl srvcqrhtda qaqasaalfd smhssqasdn pfspprtlhs pplqlqqrse
     1201 kppwyssgps stvssagpss pttvdgnsqf gfsdqpslns hvaeehqglg llqetpgsga
     1261 qelsiegeqe lfepnqspqv ppmetsqpye evsqpcqevp disqpcqdis ealsqpcqkv
     1321 pdisqqcqen hdngnhtcqe vphisqpcqk ssqlcqkvse evcqlclens eevsqpcqgv
     1381 svevgklvhk fhvgvgslvq etlvevgspa eeipeeviqp yqefsvevgr laqetsainl
     1441 lsqgipeidk psqefpeeid lqaqevpeei n
//
LOCUS       XP_005255536             332 aa            linear   PRI 20-MAR-2023
DEFINITION  target of rapamycin complex subunit LST8 isoform X3 [Homo sapiens].
ACCESSION   XP_005255536
VERSION     XP_005255536.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005255479.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..332
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..332
                     /product="target of rapamycin complex subunit LST8 isoform
                     X3"
                     /calculated_mol_wt=36369
     Region          14..303
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(17,21,27..28,40..41,59,67,74..75,89..90,107,112,
                     118..119,133,150,155,161..162,174..175,193,197,203..204,
                     224..225,242,247,253..254,274..275,293,297,303)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          47..89
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          95..133
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          137..173
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          180..223
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          230..264
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          279..305
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..332
                     /gene="MLST8"
                     /gene_synonym="GbetaL; GBL; LST8; POP3; WAT1"
                     /coded_by="XM_005255479.3:85..1083"
                     /db_xref="GeneID:64223"
                     /db_xref="HGNC:HGNC:24825"
                     /db_xref="MIM:612190"
ORIGIN      
        1 mntspgtvgs dpvilatagy dhtvrfwqah sgictrtvqh qdsqvnalev tpdrsmiaaa
       61 vqpvslgyqh irmydlnsnn pnpiisydgv nkniasvgfh edgrwmytgg edctariwdl
      121 rsrnlqcqri fqvnapincv clhpnqaeli vgdqsgaihi wdlktdhneq lipepevsit
      181 sahidpdasy maavnstgnc yvwnltggig devtqlipkt kipahtryal qcrfspdstl
      241 latcsadqtc kiwrtsnfsl mtelsiksgn pgessrgwmw gcafsgdsqy ivtassdnla
      301 rlwcvetgei kreygghqka vvclafndsv lg
//
LOCUS       XP_011544221             958 aa            linear   PRI 20-MAR-2023
DEFINITION  probable fibrosin-1 isoform X4 [Homo sapiens].
ACCESSION   XP_011544221
VERSION     XP_011544221.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011545919.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..958
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..958
                     /product="probable fibrosin-1 isoform X4"
                     /calculated_mol_wt=101232
     Region          580..780
                     /region_name="Auts2"
                     /note="Autism susceptibility gene 2 protein; pfam15336"
                     /db_xref="CDD:434645"
     CDS             1..958
                     /gene="FBRS"
                     /gene_synonym="FBS; FBS1"
                     /coded_by="XM_011545919.3:1089..3965"
                     /db_xref="GeneID:64319"
                     /db_xref="HGNC:HGNC:20442"
                     /db_xref="MIM:608601"
ORIGIN      
        1 metaaaaapg pgwaaegerr rrrcsrrdrd reqrrrrgpg gdaprallaa prgssssssp
       61 ppparpwssa ssgerpggpr rrrprprprp prprarkrpa gsgsrgeeee eeeeeggadd
      121 geaeeepeee eeeeedlidg faiasfatle alqkdaslqp perlehrlkh sgkrkrggss
      181 gatgepgdss drepgrppgd rarkwpnkrr rkevsdddld psftvstska sgphgafngn
      241 ceaklsvvpk vsglersqeq ppgpdpllvp fppkeppppp vprppvsppa plpatpslpp
      301 ppqpqlqlrv spfglrtspy gssldlstgs ssrpppkapa ppvaqpppss sssssssssa
      361 ssssaqlthr pptpslplpl sthsfpppgl rppppphhps lfspgptlpp pppllqvpgh
      421 pgasaanals eqdligqdln srylnaqggp evvgaggsar plafqfhqhn hqhqhthqht
      481 hqhftpyppg llpphgphmf ekypgkmegl frhnpytafp pavpglppgl ppavsfgslq
      541 gafqpkstnp elpprlgpvp sglsqkgtqi pdhfrpplrk pgkwcamhvr vaymilrhqe
      601 kmkgdshkld frndllpclp gpygalppgq elshpaslft atgavhaaan pftaapgahg
      661 pflspsthid pfgrptsfas laalsngafg glgsptfnsg avfaqkespg appafasppd
      721 pwgrlhrspl tfpawvrppe aartpgsdke rpverrepsi tkeekdrdlp fsrpqlrvsp
      781 atpkaragee gprptkesvr vkeerkeeaa aaaaaaaaaa aaaaaaatgp qglhllferp
      841 rpppflgpsp pdrcagflep twlaapprla rpprfyeage eltgpgavaa arlyglepah
      901 pllysrlapp pppaaapgtp hllsktppga llgappplvp aprpsspprg pgparadr
//
LOCUS       XP_047291416             897 aa            linear   PRI 20-MAR-2023
DEFINITION  schlafen family member 13 isoform X1 [Homo sapiens].
ACCESSION   XP_047291416
VERSION     XP_047291416.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435460.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..897
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..897
                     /product="schlafen family member 13 isoform X1"
                     /calculated_mol_wt=101914
     Region          <15..347
                     /region_name="PHA02782"
                     /note="hypothetical protein; Provisional"
                     /db_xref="CDD:165147"
     Region          595..>676
                     /region_name="AAA_22"
                     /note="AAA domain; pfam13401"
                     /db_xref="CDD:379165"
     CDS             1..897
                     /gene="SLFN13"
                     /gene_synonym="hSLFN13; SLFN10"
                     /coded_by="XM_047435460.1:628..3321"
                     /db_xref="GeneID:146857"
                     /db_xref="HGNC:HGNC:26481"
                     /db_xref="MIM:614957"
ORIGIN      
        1 meanhcslgv ypsypdlvid vgevtlgeen rkklqktqrd qerarviraa callnsgggv
       61 iqmemanrde rptemgldle eslrkliqyp ylqaffetkq hgrcfyifvk swsgdpflkd
      121 gsfnsricsl ssslycrsgt svlhmnsrqa fdflktkerq skynlinegs ppskimkavy
      181 qnisesnpay evfqtdtiey geilsfpesp siefkqfstk hiqqyvenii peyisafant
      241 eggylfigvd dksrkvlgca keqvdpdslk nviaraiskl pivhfcsskp rveystkive
      301 vfcgkelygy lcvikvkafc cvvfseapks wmvrekyirp ltteewvekm mdadpefppd
      361 faeafesqls lsdspslcrp vyskkglehk adlqqhlfpv ppghlectpe slwkelslqh
      421 eglkelihkq mrpfsqgivi lsrswavdln lqekpgvicd alliaqnstp ilytilreqd
      481 aegqdyctrt aftlkqklvn mggytgkvcv rakvlclspe ssaealeaav spmdypasys
      541 lagtqhmeal lqslvivllg frsllsdqlg cevlnlltaq qyeifsrslr knrelfvhgl
      601 pgsgktimam kimekirnvf hceahrilyv cenqplrnfi sdrnicraet retflrekfe
      661 hiqhividea qnfrtedgdw yrkaktitqr ekdcpgvlwi fldyfqtshl ghsglpplsa
      721 qypreeltrv vrnadeiaey iqqemqliie nppiniphgy lailseakwv pgvpgntkii
      781 knftleqivt yvadtcrcff ergyspkdva vlvstvteve qyqskllkam rkkmvvqlsd
      841 acdmlgvhiv ldsvrrfsgl ersivfgihp rtadpailpn iliclasrak qhlyifl
//
LOCUS       XP_047291671             509 aa            linear   PRI 20-MAR-2023
DEFINITION  syntaxin-binding protein 4 isoform X5 [Homo sapiens].
ACCESSION   XP_047291671
VERSION     XP_047291671.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435715.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..509
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..509
                     /product="syntaxin-binding protein 4 isoform X5"
                     /calculated_mol_wt=56536
     Region          22..100
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(30..33,35,86..87,90..91)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          <298..>463
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..509
                     /gene="STXBP4"
                     /gene_synonym="Synip"
                     /coded_by="XM_047435715.1:208..1737"
                     /db_xref="GeneID:252983"
                     /db_xref="HGNC:HGNC:19694"
                     /db_xref="MIM:610415"
ORIGIN      
        1 mnkntstvvs psllekdpaf qmitiaketg lglkvlggin rnegplvyiq eiipggdcyk
       61 dgrlkpgdql vsvnkesmig vsfeeaksii tgaklstrle saweiafirq ksdniqpenl
      121 sctslieasg eygpqastls lfssppeili pktsstpktn ndilssceik tgynktvqip
      181 itsenstvgl sntdvasawt enyglqekis lnpsvrfkae klemalnylg iqptkeqhqa
      241 lrqqvqadsk gtvsfgdfvq varnlfclql devnvgahei snildsqllp cdsseademe
      301 rlkcerddal kevntlkekl lesdkqrkql teelqnvkqe akavveetra lrsrihlaea
      361 aqrqahgmem dyeevirlle akitelkaql adysdqnkes vqdlkkrimv ldcqlrksem
      421 arktfeaste kllhfveaiq evfsdnstpl snlserravl asqtsltplg rngrsipatl
      481 aleskelvks vralldmdyy tffseqhtl
//
LOCUS       XP_047291691            2022 aa            linear   PRI 20-MAR-2023
DEFINITION  protein TANC2 isoform X12 [Homo sapiens].
ACCESSION   XP_047291691
VERSION     XP_047291691.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435735.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2022
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..2022
                     /product="protein TANC2 isoform X12"
                     /calculated_mol_wt=223048
     Region          877..>1171
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          910..936
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(911..912,915..917,919..920,924,927,936,938,940,
                     944..945,948..950,952..953,957,960,969,971,973,977..978,
                     981..983,985..986,990,993)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          938..969
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1055..1085
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1087..1118
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          <1117..1243
                     /region_name="ANKYR"
                     /note="Ankyrin repeat [Signal transduction mechanisms];
                     COG0666"
                     /db_xref="CDD:223738"
     Region          1121..1151
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(1122,1126..1127,1130..1132,1134..1135,1139,1142,
                     1151,1153,1155,1159..1160,1163..1165,1167..1168,1172,1175,
                     1184,1186,1188,1192..1193,1196..1198,1200..1201,1205,1208,
                     1217)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          1153..1184
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1186..1217
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1219..1249
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          <1271..1407
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          1278..1303
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(1279..1280,1283..1284,1286,1323,1326..1327,
                     1330..1331,1333..1334,1357,1360..1361,1364..1365,1369)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          1308..1351
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1356..1385
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          <1459..1688
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..2022
                     /gene="TANC2"
                     /gene_synonym="IDDALDS; rols; ROLSA"
                     /coded_by="XM_047435735.1:125..6193"
                     /db_xref="GeneID:26115"
                     /db_xref="HGNC:HGNC:30212"
                     /db_xref="MIM:615047"
ORIGIN      
        1 meaekpdggs eeppdrrqss vdsrqsrsgq ggistesdca fepdyavppl pvsegmqhir
       61 imegmsrslp sspllthqsi svrlqpvkkl tgdaeqelgp ppsvdeaant lmtrlgfllg
      121 ekvtevqpgd qysmevqden qtsaitqris pcstltssta sppasspcst lppistnata
      181 kdcsygavts ptstlesrds giiatltsys envertkyag esskelgsgg nikpwqsqks
      241 smdsclyrvd enmtastysl nkipernlet vlsqsvqsip lylmprpnsv aatssahled
      301 layldeqrht plrtslrmpr qsmggartqq dlrvrfapyr ppdislkpll fevpsittes
      361 vfvgrdwvfh eidaqlqssn asvnqgvviv gnigfgktai isrlvalsch gtrmrqiasd
      421 sphaspkhvd anrelpltqp psahssitsg scpgtpemrr rqeeamrrla sqvvayhycq
      481 adnaytclvp efvhnvaall crspqltayr eqllrephlq smlslrscvq dpmasfrrgv
      541 leplenlhke rkipdedfii lidglneaef hkpdygdtiv sflskmigkf pswlklivtv
      601 rtslqeitkl lpfhrifldr leeneaidqd lqayilhrih ssseiqnnis lngkmdnttf
      661 gklsshlktl sqgsylylkl tfdliekgyl vlksssykvv pvslsevyll qcnmkfptqs
      721 sfdrvmplln vavaslhplt dehifqaina gsiegtlewe dfqqrmenls mflikrrdmt
      781 rmfvhpsfre wliwreegek tkflcdprsg htllafwfsr qegklnrqqt ielghhilka
      841 hifkglskkv gvsssilqgl wisystegls malaslrnly tpnikvsrll ilgganinyr
      901 tevlnnapil cvqshlgyte mvalllefga nvdassesgl tplgyaaaag ylsivvllck
      961 krakvdhldk ngqcalvhaa lrghlevvkf liqcdwtmag qqqgvfkksh aiqqaliaaa
     1021 smgyteivsy lldlpekdee everaqinsf dslwgetalt aaagrgklev crllleqgaa
     1081 vaqpnrrgav plfstvrqgh wqivdlllth gadvnmadkq grtplmmaas eghlgtvdfl
     1141 laqgasialm dkegltalsw aclkghlsvv rslvdngaat dhadkngrtp ldlaafygda
     1201 evvqflvdhg amiehvdysg mrpldravgc rntsvvvtll kkgakigcqt lpsrprgpat
     1261 wamatskpdi miillsklme egdmfykkgk vkeaaqryqy alkkfpregf gedlktfrel
     1321 kvslllnlsr crrkmndfgm aeefatkale lkpksyeayy ararakrsss rqfaaaledl
     1381 neaiklcpnn reiqrlllrv eeecrqmqqp qqpppppqpq qqlpeeaepe pqhediysvq
     1441 difeeeyleq dvenvsiglq tearpsqglp viqsppsspp hrdsayisss plgshqvfdf
     1501 rssssvgspt rqtyqstspa lspthqnshy rpspphtspa hqggsyrfsp ppvggqgkey
     1561 pspppsplrr gpqyrasppa esmsvyrsqs gspvryqqet svsqlpgrpk splskmaqrp
     1621 yqmpqlpvav pqqglrlqpa kaqivrsnqp spavhsstvi ptgaygqvah smaskyqssq
     1681 gdigvsqsrl vyqgsiggiv gdgrpvqhvq aslsagaicq hggltkedlp qrpssayrgg
     1741 vrysqtpqig rsqsasyypv chskldlers ssqlgspdvs hlirrpisvn pneikphppt
     1801 prpllhsqsv glrfspssns isstsnltpt frpsssiqqm eiplkpayer scdelspvsp
     1861 tqggypsept rsrttpfmgi idktartqqy phlhqqnrtw avssvdtvls ptspgnlpqp
     1921 esfsppssis niafynktnn aqnghlledd yysphgmlan gsrgdllerv sqassypdvk
     1981 vartlpvaqa yqdnlyrqls rdsrqgqtsp ikpkrpfves nv
//
LOCUS       XP_047292365             323 aa            linear   PRI 20-MAR-2023
DEFINITION  dual specificity mitogen-activated protein kinase kinase 3 isoform
            X4 [Homo sapiens].
ACCESSION   XP_047292365
VERSION     XP_047292365.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436409.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..323
                     /product="dual specificity mitogen-activated protein
                     kinase kinase 3 isoform X4"
                     /calculated_mol_wt=35985
     Region          58..>256
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(66..69,72,74,87,89,120,136..139,186,190..191,193,
                     203..204)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     CDS             1..323
                     /gene="MAP2K3"
                     /gene_synonym="MAPKK3; MEK3; MKK3; PRKMK3; SAPKK-2;
                     SAPKK2"
                     /coded_by="XM_047436409.1:202..1173"
                     /db_xref="GeneID:5606"
                     /db_xref="HGNC:HGNC:6843"
                     /db_xref="MIM:602315"
ORIGIN      
        1 mnspsllpqr dpgkskrkkd lriscmskpp apnptpprnl dsrtfitigd rnfeveaddl
       61 vtiselgrga ygvvekvrha qsgtimavkr iratvnsqeq krllmdldin mrtvdcfytv
      121 tfygalfreg dvwicmelmd tsldkfyrkv ldknmtiped ilgeiavsiv ralehlhskl
      181 svihrdvkps nvlinkeghv kmcdfgisgy lvdsvaktmd agckpymape rinpelnqkg
      241 ynvksdvwsl gitmpeeepr rayelpgadg apllhlaqnq edghcclreg dpgrrligag
      301 prtplrpsra pqphlrgqcs ptp
//
LOCUS       XP_016880430             217 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Njmu-R1 isoform X2 [Homo sapiens].
ACCESSION   XP_016880430
VERSION     XP_016880430.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017024941.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..217
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..217
                     /product="protein Njmu-R1 isoform X2"
                     /calculated_mol_wt=24748
     Region          <1..211
                     /region_name="Njmu-R1"
                     /note="Mjmu-R1-like protein family; pfam15053"
                     /db_xref="CDD:434421"
     CDS             1..217
                     /gene="C17orf75"
                     /gene_synonym="NJMU-R1; SRI2"
                     /coded_by="XM_017024941.3:489..1142"
                     /db_xref="GeneID:64149"
                     /db_xref="HGNC:HGNC:30173"
ORIGIN      
        1 mnceargles hiksylsswf edvvcpiqrv vllfqekltf llhaalsytp vevkesdekt
       61 krdinrflsv aslqgliheg tmtslcmamt eeqhksvvid csssqpqfcn agsnrfcedw
      121 mqaflngakg gnpflfrqvl enfklkaiqd tnnlkrfirq aemnhyalfk cymflkncgs
      181 gdillkivkv eheempeakn viavleefmk ealdqsf
//
LOCUS       XP_047292691             456 aa            linear   PRI 20-MAR-2023
DEFINITION  UNC93-like protein MFSD11 isoform X2 [Homo sapiens].
ACCESSION   XP_047292691
VERSION     XP_047292691.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436735.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..456
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..456
                     /product="UNC93-like protein MFSD11 isoform X2"
                     /calculated_mol_wt=49870
     Region          11..395
                     /region_name="MFS_MFSD11"
                     /note="UNC93-like Major facilitator superfamily
                     domain-containing protein 11; cd17407"
                     /db_xref="CDD:340965"
     Site            order(21..22,25..26,29,63,112..113,115..117,120,144,
                     147..148,151,246,249..250,253..255,258,289,293,356..357,
                     361,365,388,391..392,395)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:340965"
     CDS             1..456
                     /gene="MFSD11"
                     /gene_synonym="ET"
                     /coded_by="XM_047436735.1:119..1489"
                     /db_xref="GeneID:79157"
                     /db_xref="HGNC:HGNC:25458"
ORIGIN      
        1 mspeskklfn iiilgvafmf mftafqtcgn vaqtvirsln rtdfhgsgyt smaiiygvfs
       61 asnlitpsvv aivgpqlsmf asglfysmyi avfiqpfpws fytasvfigi aaavlwtaqg
      121 ncltinsdeh sigrnsgifw allqsslffg nlyiyfawqg ktqisesdrr tvfialtvis
      181 lvgtvlffli rkpdsenvlg edessddqdm evnesaqnnl tkavdafkks fklcvtkeml
      241 llsittaytg leltffsgvy gtcigatnkf gaeeksligl sgifigigei lggslfglls
      301 knnrfgrnpv vllgilvhfi afyliflnmp gdapiapvkg tdssayikss kevailcsfl
      361 lglgdscfnt qllsilgfly sedsapafai fkfvqflwvg nlrmaelspe rlsrlqsmsl
      421 qaavkvcsrl hwgracfpah sysccrsqfl tdcqak
//
LOCUS       XP_047293171             881 aa            linear   PRI 20-MAR-2023
DEFINITION  small G protein signaling modulator 2 isoform X17 [Homo sapiens].
ACCESSION   XP_047293171
VERSION     XP_047293171.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437215.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..881
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..881
                     /product="small G protein signaling modulator 2 isoform
                     X17"
                     /calculated_mol_wt=97238
     Region          18..243
                     /region_name="RUN"
                     /note="RUN domain; cl45896"
                     /db_xref="CDD:459241"
     Region          302..470
                     /region_name="PH_RUTBC"
                     /note="Rab-binding Pleckstrin homology domain (PH) of
                     small G-protein signaling modulator 1 and similar
                     proteins; cd15784"
                     /db_xref="CDD:275431"
     CDS             1..881
                     /gene="SGSM2"
                     /gene_synonym="RUTBC1"
                     /coded_by="XM_047437215.1:189..2834"
                     /db_xref="GeneID:9905"
                     /db_xref="HGNC:HGNC:29026"
                     /db_xref="MIM:611418"
ORIGIN      
        1 mgsaedavke kllwnvkkev kqimeeavtr kfvhedsshi ialcaadphq gltrcqtpft
       61 vqgngsdkmd rvsaagayil lgrqtgnkca saveacllhq lrrraagflr sdkmaalftk
      121 vgktcpvage ichkvqelqq qaegrkpsgv sqealrrqgs asgkapalsp qalkhvwvrt
      181 aliekvldkv vqylaencsk yyekeallad pvfgpilasl lvgpcaleyt klktadhywt
      241 dpsadelvqr hrirgpptrq dspakrpalg irkrhssgsa sedrlaacar ecveslhqns
      301 rtrllygknh vlvqpkedme avpgylslhq saesltlkwt pnqlmngtlg dseleksvyw
      361 dyalvvpfsq vvcihchqqk sggtlvlvsq dgiqrpplhf pqgghllsfl sclengllpr
      421 gqlepplwtq qgkgkvfpkl rkrssirsvd meemgtgrat dyvfriiypg hrhehitiny
      481 hhlaasraas vdddeeeedk lhamlsmics rnltapnpmk dagdmiemqg fgpslpawhl
      541 eplcsqgssc lscsssssph atpshcscip drlplrllce smkrqivsra fygwlahcrh
      601 lstvrthlsa lvhhsvippd rppgasaglt kdvwskyqkd kknykelell rqvyyggieh
      661 eirkdvwpfl lghykfgmsk kemeqvdavv aaryqqvlae wkacevvvrq rereahpatr
      721 tkfssgssid shvqrlihrd stisndvfis vddleppepq dpedsrpkpe qeagpgtpgt
      781 avveqqhsve fdspdsglps srnysvasgi qssldegqsv gfeeedggge egssgpgpaa
      841 htlrepqdps qekpqagele ageelaavca aaytnywtlw p
//
LOCUS       XP_006722845             284 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box/LRR-repeat protein 12 isoform X1 [Homo sapiens].
ACCESSION   XP_006722845
VERSION     XP_006722845.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006722782.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Mar 12, 2015 this sequence version replaced XP_006722845.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..284
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..284
                     /product="F-box/LRR-repeat protein 12 isoform X1"
                     /calculated_mol_wt=31555
     Region          62..83
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          79..>184
                     /region_name="AMN1"
                     /note="Antagonist of mitotic exit network protein 1;
                     cd09293"
                     /db_xref="CDD:187754"
     Region          111..135
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          <125..249
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          136..161
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          162..187
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          188..211
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          242..277
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     CDS             1..284
                     /gene="FBXL12"
                     /gene_synonym="Fbl12"
                     /coded_by="XM_006722782.5:4445..5299"
                     /db_xref="GeneID:54850"
                     /db_xref="HGNC:HGNC:13611"
                     /db_xref="MIM:609079"
ORIGIN      
        1 milrppqpcg tmrpkvmwhl lrrymasrlh slrmggylfs gsqapqlspa llralgqkcp
       61 nlkrlclhva dlsmvpitsl pstlrtlelh sceismawlh kqqdptvlpl lecivldrvp
      121 afrdehlqgl trfralrslv lggtyrvtet gldaglqels ylqrlevlgc tlsadstlla
      181 isrhlrdvrk irltvrglsa pglavlegmp aleslclqgp lvtpempspt eilsscltmp
      241 klrvlelqgl gwegqeaeki lckglphcmv ivracpkesm dwwm
//
LOCUS       XP_047295115            1926 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase S isoform X7 [Homo
            sapiens].
ACCESSION   XP_047295115
VERSION     XP_047295115.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439159.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1926
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..1926
                     /product="receptor-type tyrosine-protein phosphatase S
                     isoform X7"
                     /calculated_mol_wt=214211
     Region          33..124
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          50..54
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          63..67
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          86..93
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          104..109
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          117..120
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          137..226
                     /region_name="IgI_2_RPTP_IIa_LAR_like"
                     /note="Second immunoglobulin (Ig)-like domain of the
                     receptor protein tyrosine phosphatase (RPTP)-F; member of
                     the I-set of IgSF domains; cd05738"
                     /db_xref="CDD:409400"
     Region          143..147
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409400"
     Region          150..159
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409400"
     Region          164..170
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409400"
     Region          172..174
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409400"
     Region          183..187
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409400"
     Region          190..195
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409400"
     Region          204..211
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409400"
     Region          214..225
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409400"
     Region          235..316
                     /region_name="IgI_3_RPTP_IIa_LAR_like"
                     /note="Third immunoglobulin (Ig)-like domain of the
                     receptor protein tyrosine phosphatase (RPTP)-F (also known
                     as LAR), type IIa; member of the I-set of IgSF domains;
                     cd05739"
                     /db_xref="CDD:409401"
     Region          235..237
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409401"
     Region          241..245
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409401"
     Region          248..256
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409401"
     Region          261..267
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409401"
     Region          269..271
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409401"
     Region          274..278
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409401"
     Region          283..288
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409401"
     Region          295..302
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409401"
     Region          306..315
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409401"
     Region          319..408
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(319,381,396)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(397..398,400..401)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          415..507
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(496..497,499..500)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          512..600
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(512,573,588)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(589..590,592..593)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          608..702
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(691..692,694..695)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          710..806
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(795..796,798..799)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          816..898
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(891..892,894..895)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          910..1007
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(996..997,999..1000)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1015..>1075
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Region          1348..1629
                     /region_name="R-PTPc-S-1"
                     /note="catalytic domain of receptor-type tyrosine-protein
                     phosphatase S, repeat 1; cd14625"
                     /db_xref="CDD:350473"
     Region          1631..1920
                     /region_name="R-PTP-S-2"
                     /note="PTP-like domain of receptor-type tyrosine-protein
                     phosphatase S, repeat 2; cd14627"
                     /db_xref="CDD:350475"
     CDS             1..1926
                     /gene="PTPRS"
                     /gene_synonym="PTPSIGMA; R-PTP-S; R-PTP-sigma"
                     /coded_by="XM_047439159.1:200..5980"
                     /db_xref="GeneID:5802"
                     /db_xref="HGNC:HGNC:9681"
                     /db_xref="MIM:601576"
ORIGIN      
        1 maptwgpgmv svvgpmgllv vllvggcaae epprfikepk dqigvsggva sfvcqatgdp
       61 kprvtwnkkg kkvnsqrfet iefdesagav lriqplrtpr denvyecvaq nsvgeitvha
      121 kltvlredql psgfpnidmg pqlkvvertr tatmlcaasg npdpeitwfk dflpvdpsas
      181 ngrikqlrsg alqiesseet dqgkyecvat nsagvryssp anlyvrvrrv aprfsilpms
      241 heimpggnvn itcvavgspm pyvkwmqgae dltpeddmpv grnvleltdv kdsanytcva
      301 msslgvieav aqitvkslpk apgtpmvten tatsititwd sgnpdpvsyy vieyksksqd
      361 gpyqikedit ttrysiggls pnseyeiwvs avnsigqgpp sesvvtrtge qapasaprnv
      421 qarmlsattm ivqweepvep nglirgyrvy ytmepehpvg nwqkhnvdds llttvgslle
      481 detytvrvla ftsvgdgpls dpiqvktqqg vpgqpmnlra earsetsitl swspprqesi
      541 ikyellfreg dhgrevgrtf dpttsyvved lkpnteyafr laarspqglg aftpvvrqrt
      601 lqskpsappq dvkcvsvrst ailvswrppp pethngalvg ysvryrplgs edpepkevng
      661 ipptttqill ealekwtqyr ittvahtevg pgpesspvvv rtdedvpsap prkveaealn
      721 atairvlwrs papgrqhgqi rgyqvhyvrm egaeargppr ikdvmladaq emvitnlqpe
      781 taysitvaay tmkgdgarsk pkvvvtkgav lgrptlsvqq tpegsllarw eppagtaedq
      841 vlgyrlqfgr edstplatle fppsedryta sgvhkgatyv frlaarsrgg lgeeaaevls
      901 ipedtprghp qileaagnas agtvllrwlp pvpaerngai vkytvavrea galgparete
      961 lpaaaepgae naltlqglkp dtaydlqvra htrrgpgpfs ppvryrtflr dqvspknfkv
     1021 kmimktsvll swefpdnyns ptpykiqyng ltldvdgrtt kklithlkph tfynfvltnr
     1081 gsslgglqqt vtawtafnll ngkpsvapkp dadgfimvyl pdgqspvpvq syfivmvplr
     1141 ksrggqfltp lgspedmdle eliqdisrlq rrslrhsrql evprpyiaar fsvlpptfhp
     1201 gdqkqyggfd nrglepghry vlfvlavlqk septfaaspf sdpfqldnpd pqpivdgeeg
     1261 liwvigpvla vvfiicivia illyknkpds krkdseprtk cllnnadlap hhpkdpvemr
     1321 rinfqtpdsg lrsplrepgf hfesmlshpp ipiadmaeht erlkandslk lsqeyesidp
     1381 gqqftwehsn levnkpknry anviaydhsr vilqpiegim gsdyinanyv dgyrcqnayi
     1441 atqgplpetf gdfwrmvweq rsativmmtr leeksrikcd qywpnrgtet ygfiqvtlld
     1501 tielatfcvr tfslhkngss ekrevrqfqf tawpdhgvpe yptpflaflr rvktcnppda
     1561 gpivvhcsag vgrtgcfivi damlerikpe ktvdvyghvt lmrsqrnymv qtedqysfih
     1621 ealleavgcg ntevparsly ayiqklaqve pgehvtgmel efkrlanska htsrfisanl
     1681 pcnkfknrlv nimpyestrv clqpirgveg sdyinasfid gyrqqkayia tqgplaette
     1741 dfwrmlwenn stivvmltkl remgrekchq ywpaersary qyfvvdpmae ynmpqyilre
     1801 fkvtdardgq srtvrqfqft dwpeqgvpks gegfidfigq vhktkeqfgq dgpisvhcsa
     1861 gvgrtgvfit lsivlermry egvvdifqtv kmlrtqrpam vqtedeyqfc yqaaleylgs
     1921 fdhyat
//
LOCUS       XP_016860184             347 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF25 isoform X1 [Homo sapiens].
ACCESSION   XP_016860184
VERSION     XP_016860184.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004695.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..347
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..347
                     /product="E3 ubiquitin-protein ligase RNF25 isoform X1"
                     /calculated_mol_wt=38910
     Region          19..93
                     /region_name="RING-H2_RNF25"
                     /note="RING finger, H2 subclass, found in RING finger
                     protein 25 (RNF25) and similar proteins; cd16470"
                     /db_xref="CDD:438133"
     Site            order(24..25,27..28,52..53,56,87,90)
                     /site_type="other"
                     /note="E2 binding site [polypeptide binding]"
                     /db_xref="CDD:438133"
     Region          <152..300
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..347
                     /gene="RNF25"
                     /gene_synonym="AO7"
                     /coded_by="XM_017004695.3:440..1483"
                     /db_xref="GeneID:64320"
                     /db_xref="HGNC:HGNC:14662"
                     /db_xref="MIM:616014"
ORIGIN      
        1 mlyeliekgk eiltdnniph gqcviclygf qekeaftktp cyhyfhchcl aryiqhmeqe
       61 lkaqgqeqeq erqhattkqk avgvqcpvcr eplvydlasl kaapepqqpm elyqpsaesl
      121 rqqeerkrly qrqqerggii dleaernryf islqqppapa epesavdvsk gsqppstlaa
      181 elstspavqs tlppplpvat qhicekipgt rsnqqrlget qkamldppkp srgpwrqper
      241 rhpkggecha pkgtrdtqel pppegplkep mdlkpephsq gvegppqekg pgswqgpppr
      301 rtrdcvrwer skgrtpgssy prlprgqgay rpgtrreslg leskdgs
//
LOCUS       XP_047296832             345 aa            linear   PRI 20-MAR-2023
DEFINITION  poly(rC)-binding protein 3 isoform X11 [Homo sapiens].
ACCESSION   XP_047296832
VERSION     XP_047296832.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440876.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..345
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..345
                     /product="poly(rC)-binding protein 3 isoform X11"
                     /calculated_mol_wt=36686
     Region          38..114
                     /region_name="KH-I"
                     /note="K homology (KH) RNA-binding domain, type I;
                     cl00098"
                     /db_xref="CDD:444693"
     Region          125..201
                     /region_name="KH-I_PCBP3_rpt2"
                     /note="second type I K homology (KH) RNA-binding domain
                     found in poly(rC)-binding protein 3 (PCBP3) and similar
                     proteins; cd22519"
                     /db_xref="CDD:411947"
     Site            order(137,142..143,145..149,152,156,164..167,172,176)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411947"
     Region          260..334
                     /region_name="KH-I_PCBP3_rpt3"
                     /note="third type I K homology (KH) RNA-binding domain
                     found in poly(rC)-binding protein 3 (PCBP3) and similar
                     proteins; cd22522"
                     /db_xref="CDD:411950"
     Site            order(277..281,283..287,289..291,294,302..303,305,313)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411950"
     CDS             1..345
                     /gene="PCBP3"
                     /gene_synonym="ALPHA-CP3; PCBP3-OT1; PCBP3OT"
                     /coded_by="XM_047440876.1:439..1476"
                     /db_xref="GeneID:54039"
                     /db_xref="HGNC:HGNC:8651"
                     /db_xref="MIM:608502"
ORIGIN      
        1 mgegdafwap svlphstlst lshhpqpqfg rrmeskvseg glnvtltirl lmhgkevgsi
       61 igkkgetvkk mreesgarin isegncperi vtitgptdai fkafamiayk feediinsms
      121 nspatskppv tlrlvvpasq cgsligkggs kikeirestg aqvqvagdml pnsteravti
      181 sgtpdaiiqc vkqicvvmle aytiqgqyai phpdltklhq lamqqtpfpp lgqtnpafpg
      241 eklplhssee aqnlmgqssg ldasppasth eltipndlig ciigrqgtki neirqmsgaq
      301 ikianategs serqititgt panislaqyl inarltsevt gmgtl
//
LOCUS       XP_047304248             484 aa            linear   PRI 20-MAR-2023
DEFINITION  inositol hexakisphosphate kinase 2 isoform X2 [Homo sapiens].
ACCESSION   XP_047304248
VERSION     XP_047304248.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448292.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..484
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..484
                     /product="inositol hexakisphosphate kinase 2 isoform X2"
                     /calculated_mol_wt=55553
     Region          261..476
                     /region_name="IPK"
                     /note="Inositol polyphosphate kinase; pfam03770"
                     /db_xref="CDD:397715"
     CDS             1..484
                     /gene="IP6K2"
                     /gene_synonym="IHPK2; InsP6K2; PIUS"
                     /coded_by="XM_047448292.1:883..2337"
                     /db_xref="GeneID:51447"
                     /db_xref="HGNC:HGNC:17313"
                     /db_xref="MIM:606992"
ORIGIN      
        1 mnlcqspfqe gcqsllaswp eqakeprreg htdkqqtedv laaglrclph lpaicarrms
       61 paframdvep rakgvllepf vhqvgghscv lrfnettlck plvprehqfy etlpaemrkf
      121 tpqykgvvsv rfeededrnl cliayplkgd hgivdivdns dcepkskllr wttnkkhhvl
      181 etektpkdwv rqhrkeekmk shkleeefew lkksevlyyt vekkgnissq lkhynpwsmk
      241 chqqqlqrmk enakhrnqyk fillenltsr yevpcvldlk mgtrqhgdda seekaanqir
      301 kcqqstsavi gvrvcgmqvy qagsgqlmfm nkyhgrklsv qgfkealfqf fhngrylrre
      361 llgpvlkklt elkavlerqe syrfysssll viydgkerpe vvldsdaedl edlseesade
      421 sagayaykpi gassvdvrmi dfahttcrly gedtvvhegq dagyifglqs lidivteise
      481 esge
//
LOCUS       XP_047272514             198 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124900867 [Homo sapiens].
ACCESSION   XP_047272514
VERSION     XP_047272514.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416558.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 17% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..198
                     /product="uncharacterized protein LOC124900867"
                     /calculated_mol_wt=21657
     CDS             1..198
                     /gene="LOC124900867"
                     /coded_by="XM_047416558.1:1..597"
                     /db_xref="GeneID:124900867"
ORIGIN      
        1 marflnmrnh flafphhrni aqkyvshrsp rgravvpvll aaqrgrtrvr fqpgrralia
       61 arqsgprltp areprpgetr gagegplrsa lavhspkrgl gsscqrclss spgcpglprr
      121 ppagshrdlq pqrlprrppr egsararrvw lgegvvprag cvlcplkrfr arrreeavpa
      181 tpteierrgk eaacggtg
//
LOCUS       XP_047273388            2575 aa            linear   PRI 20-MAR-2023
DEFINITION  teneurin-2 isoform X21 [Homo sapiens].
ACCESSION   XP_047273388
VERSION     XP_047273388.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417432.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2575
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..2575
                     /product="teneurin-2 isoform X21"
                     /calculated_mol_wt=285518
     Region          <47..253
                     /region_name="Ten_N"
                     /note="Teneurin Intracellular Region; pfam06484"
                     /db_xref="CDD:428971"
     Region          454..613
                     /region_name="DUF5885"
                     /note="Family of unknown function (DUF5885); pfam19232"
                     /db_xref="CDD:437064"
     Region          546..>682
                     /region_name="Keratin_B2"
                     /note="Keratin, high sulfur B2 protein; pfam01500"
                     /db_xref="CDD:366678"
     Region          1048..1371
                     /region_name="NHL"
                     /note="NHL repeat unit of beta-propeller proteins;
                     cl18310"
                     /db_xref="CDD:302697"
     Region          1086..1135
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1159..1197
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1213..1254
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1277..1310
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1345..1371
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1483..1519
                     /region_name="RHS_repeat"
                     /note="RHS Repeat; pfam05593"
                     /db_xref="CDD:428530"
     Region          <1756..>2242
                     /region_name="RhsA"
                     /note="Uncharacterized conserved protein RhsA, contains 28
                     RHS repeats [General function prediction only]; COG3209"
                     /db_xref="CDD:225750"
     Region          2192..2268
                     /region_name="Rhs_assc_core"
                     /note="RHS repeat-associated core domain; TIGR03696"
                     /db_xref="CDD:274730"
     Region          2491..2568
                     /region_name="Tox-GHH"
                     /note="GHH signature containing HNH/Endo VII superfamily
                     nuclease toxin; pfam15636"
                     /db_xref="CDD:434826"
     CDS             1..2575
                     /gene="TENM2"
                     /gene_synonym="ODZ2; ten-2; TEN-M2; TEN2; TNM2"
                     /coded_by="XM_047417432.1:126..7853"
                     /db_xref="GeneID:57451"
                     /db_xref="HGNC:HGNC:29943"
                     /db_xref="MIM:610119"
ORIGIN      
        1 mvspplliis vagtieckpd hllwrpgsts pqsvsflhgk vvmeslgrpi pptsspsllp
       61 saqlpsshnp ppvscqmpll dsntshqimd tnpdeefspn syllracsgp qqasssgppn
      121 hhsqstlrpp lppphnhtls hhhssansln rnsltnrrsq ihapapapnd lattpesvql
      181 qdswvlnsnv pletrhflfk tssgstplfs ssspgyplts gtvytppprl lprntfsrka
      241 fklkkpskyc swkcaalsai aaalllaill ayfiamhllg lnwqlqpadg htfnngirtg
      301 lpgnddvatm psggkvpwsl knssidsgea evgrrvtqev ppgvfwrsqi hisqpqflkf
      361 nislgkdalf gvyirrglpp shaqydfmer ldgkekwsvv esprerrsiq tlvqneavfv
      421 qyldvglwhl afyndgkdke mvsfntvvld svqdcprnch gngecvsgvc hcfpgflgad
      481 cakaacpvlc sgngqyskgt cqcysgwkga ecdvpmnqci dpscgghgsc idgncvcsag
      541 ykgehceevd cldptcsshg vcvngeclcs pgwgglncel arvqcpdqcs ghgtylpdtg
      601 lcscdpnwmg pdcsvdgcpd lcngngrctl gqnswqcvcq tgwrgpgcnv ametscadnk
      661 dnegdglvdc ldpdcclqsa cqnsllcrgs rdpldiiqqg qtdwpavksf ydrikllagk
      721 dsthiipgen pfnsslvsli rgqvvttdgt plvgvnvsfv kypkygytit rqdgtfdlia
      781 nggasltlhf erapfmsqer tvwlpwnsfy amdtlvmkte ensipscdls gfvrpdpiii
      841 ssplstffsa apgqnpivpe tqvlheeiel pgsnvklryl ssrtagyksl lkitmtqstv
      901 plnlirvhlm vaveghlfqk sfqaspnlay tfiwdktday gqrvyglsda vvsvgfeyet
      961 cpslilwekr tallqgfeld psnlggwsld khhilnvksg ilhkgtgenq fltqqpaiit
     1021 simgngrrrs iscpscngla egnkllapva lavgidgsly vgdfnyirri fpsrnvtsil
     1081 elrnnpahky ylavdpvsgs lyvsdtnsrr iyrvkslsgt kdlagnsevv agtgeqclpf
     1141 dearcgdggk aidatlmspr giavdknglm yfvdatmirk vdqngiistl lgsndltavr
     1201 plscdssmdv aqvrlewptd lavnpmdnsl yvlennvilr itenhqvsii agrpmhcqvp
     1261 gidyslskla ihsalesasa iaishtgvly itetdekkin rlrqvttnge icllagaasd
     1321 cdckndvncn cysgddayat dailnspssl avapdgtiyi adlgnirira vsknkpvlna
     1381 fnqyeaaspg eqelyvfnad gihqytvslv tgeylynfty stdndvteli dnngnslkir
     1441 rdssgmprhl lmpdnqiitl tvgtngglkv vstqnlelgl mtydgntgll atksdetgwt
     1501 tfydydhegr ltnvtrptgv vtslhremek sitidiensn rdddvtvitn lssveasytv
     1561 vqdqvrnsyq lcnngtlrvm yangmgisfh sephvlagti tptigrcnis lpmenglnsi
     1621 ewrlrkeqik gkvtifgrkl rvhgrnllsi dydrnirtek iyddhrkftl riiydqvgrp
     1681 flwlpssgla avnvsyffng rlaglqrgam sertdidkqg rivsrmfadg kvwsysyldk
     1741 smvlllqsqr qyifeydssd rllavtmpsv arhsmsthts igyirniynp pesnasvifd
     1801 ysddgrilkt sflgtgrqvf ykygklskls eivydstavt fgydettgvl kmvnlqsggf
     1861 sctiryrkig plvdkqiyrf seegmvnarf dytyhdnsfr iasikpvise tplpvdlyry
     1921 deisgkvehf gkfgviyydi nqiittavmt lskhfdthgr ikevqyemfr slmywmtvqy
     1981 dsmgrvikre lklgpyantt kytydydgdg qlqsvavndr ptwrysydln gnlhllnpgn
     2041 svrlmplryd lrdritrlgd vqykidddgy lcqrgsdife ynskglltra ynkasgwsvq
     2101 yrydgvgrra syktnlghhl qyfysdlhnp trithvynhs nseitslyyd lqghlfames
     2161 ssgeeyyvas dntgtplavf singlmikql qytaygeiyy dsnpdfqmvi gfhgglydpl
     2221 tklvhftqrd ydvlagrwts pdytmwknvg kepapfnlym fksnnplsse ldlknyvtdv
     2281 kswlvmfgfq lsniipgfpr akmyfvpppy elsesqasen gqlitgvqqt terhnqafma
     2341 legqvitkkl hasirekagh wfatttpiig kgimfaikeg rvttgvssia sedsrkvasv
     2401 lnnayyldkm hysiegkdth yfvkigsadg dlvtlgttig rkvlesgvnv tvsqptllvn
     2461 grtrrftnie fqystlllsi rygltpdtld eekarvldqa rqralgtawa keqqkardgr
     2521 egsrlwtege kqqllstgrv qgyegyyvlp veqypelads ssniqflrqn emgkr
//
LOCUS       XP_016866062            2333 aa            linear   PRI 20-MAR-2023
DEFINITION  protein dopey-1 isoform X21 [Homo sapiens].
ACCESSION   XP_016866062
VERSION     XP_016866062.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017010573.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2333
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..2333
                     /product="protein dopey-1 isoform X21"
                     /calculated_mol_wt=262168
     Region          11..294
                     /region_name="Dopey_N"
                     /note="Dopey, N-terminal; pfam04118"
                     /db_xref="CDD:427723"
     Region          <2091..2319
                     /region_name="Dopey_N"
                     /note="Dopey, N-terminal; cl04407"
                     /db_xref="CDD:446380"
     CDS             1..2333
                     /gene="DOP1A"
                     /gene_synonym="dJ202D23.2; DOP1; DOPEY1; KIAA1117"
                     /coded_by="XM_017010573.1:256..7257"
                     /db_xref="GeneID:23033"
                     /db_xref="HGNC:HGNC:21194"
                     /db_xref="MIM:616823"
ORIGIN      
        1 mnteelells dskyrnyvaa idkalknfey ssewadlisa lgklnkvlqn nakyqvvpkk
       61 ltigkrlaqc lhpalpggvh rkaletyeii fkiigpkrla kdlflyssgl fpllanaams
      121 vkptllslye iyylplgktl kpglqglltg ilpgleegse yyertnmlle kvaaavdqsa
      181 fysalwgsll tspavrlpgi tyvlahlnrk lsmedqlyii gsdielmvea vstsvqdssv
      241 lvqrstldli lfcfpfhmsq atrpdmiril saalhvvlrr dmslnrrlya wllgfdnnga
      301 iigprstrhs npeehatyyf ttfskellvq amvgilqvng fgeentlmqd lkpfrilisl
      361 ldkpelgpvi ledvlievfr tlysqckael dlqteppfsk dhaqlssklr enkktaelik
      421 tanllfnsfe pyymwdyvar wfeeccrrtl hvrlqigpgd sndsselqlt nfcllvdfll
      481 divslptrsm rvlcqetyie iqtehlpqll lrmisaltsh lqtlhlselt dslrlcskil
      541 skvqppllsa stggvlqfps gqnnsvkewe dkkvssvshe nptevfedge nppssrsses
      601 gftefiqyqa drtddidrel segqgaaaip igstssetet astvgseeti iqtpsvvtqg
      661 tatrsrktaq ktamqccley vqqfltrlin lyiiqnnsfs qslatehqgd lgreqgetsk
      721 wdrnsqgdvk ekniskqkts keylsaflaa cqlflecssf pvyiaegnht selrseklet
      781 dcehvqppqw lqtlmnacsq asdfsvqsva islvmdlvgl tqsvamvtge ninsvepaqp
      841 lspnqgrvav virppltqgn lryiaektef fkhvaltlwd qlgdgtpqhh qksvelfyql
      901 hnlvpsssic edvisqqlth kdkkirmeah akfavlwhlt rdlhinksss fvrsfdrslf
      961 imldslnsld gstssvgqaw lnqvlqrhdi arvlepllll llhpktqrvs vqrvqaeryw
     1021 nkspcypgee sdkhfmqnfa csnvsqvqli tskgngekpl tmdeienfsl tvnplsdrls
     1081 llstssetip mvvsdfdlpd qqieilqssd sgcsqssagd nlsyevdpet vnaqedsqmp
     1141 kesspdddvq qvvfdlickv vsglevesas vtsqleieam ppkcsdidpd eetikiedds
     1201 iqqsqnalls nessqflsvs aegghecvan gisrnssspc isgtthtlhd ssvasietks
     1261 rqrshssiqf sfkeklsekv seketivkes gkqpgakpkv klarkkdddk kkssneklkq
     1321 tsvffsdgld lenwyscgeg diseiesdmg spgsrkspnf nihplyqhvl lylqlydssr
     1381 tlyafsaika ilktnpiafv naisttsvnn aytpqlsllq nllarhrisv mgkdfyship
     1441 vdsnhnfrss myieilislc lyymrshypt hvkvtaqdli gnrnmqmmsi eiltllftel
     1501 akviessakg fpsfisdmls kckvqkvilh cllssifsaq kwhsekmagk nlvaveegfs
     1561 edslinfsed efdngstlqs qllkvlqrli vlehrvmtip eenetgfdfv vsdlehisph
     1621 qpmtslqylh aqpitcqgmf lcaviralhq hcackmhpqw iglitstlpy mgkvlqrvvv
     1681 svtlqlcrnl dnliqqykye tglsdsrplw masiippdmi ltllegitai ihyclldptt
     1741 qyhqllvsvd qkhlfearsg ilsilhmims svtllwsilh qadssekmti aasaslttin
     1801 lgatknlrqq ilellgpism nhgvhfmaai afvwnerrqn ktttrtkvip aaseeqlllv
     1861 elvrsisvmr aetviqtvke vlkqppaiak dkkhlslevc mlqffyayiq ripvpnlvds
     1921 wasllillkd siqlslpapg qflilgvlne fimknpslen kkdqrdlqdv thkivdaiga
     1981 iagssleqtt wlrrnlevkp spkimvdgtn lesdvedmls pametanitp svysvhaltl
     2041 lsevlahlld mvfysdeker vipllvnimh yvvpylrnhs ahnapsyrac vqllsslsgy
     2101 qytrrawkke afdlfmdpsf fqmdascvnh wraimdnlmt hdkttfrdlm trvavaqsss
     2161 lnlfanrdve leqramllkr lafaifssei dqyqkylpdi qerlveslrl pqvptlhsqv
     2221 flffrvlllr mspqhltslw ptmitelvqv fllmeqelta dedisrtsgp svaglettyt
     2281 ggngfstsyn sqrwlnlyls ackfldlala lpsenlpqfq irvigskwsm wiy
//
LOCUS       XP_047274803             356 aa            linear   PRI 20-MAR-2023
DEFINITION  adenosine 3'-phospho 5'-phosphosulfate transporter 2 isoform X8
            [Homo sapiens].
ACCESSION   XP_047274803
VERSION     XP_047274803.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418847.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..356
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..356
                     /product="adenosine 3'-phospho 5'-phosphosulfate
                     transporter 2 isoform X8"
                     /calculated_mol_wt=40315
     Region          190..>353
                     /region_name="UAA"
                     /note="UAA transporter family; pfam08449"
                     /db_xref="CDD:312076"
     CDS             1..356
                     /gene="SLC35B3"
                     /gene_synonym="C6orf196; CGI-19; PAPST2"
                     /coded_by="XM_047418847.1:137..1207"
                     /db_xref="GeneID:51000"
                     /db_xref="HGNC:HGNC:21601"
                     /db_xref="MIM:610845"
ORIGIN      
        1 mlrlaqtprr lpspfrvtyr pwgtrafgaf pvfgtqissp penldtahlp hpegafeewm
       61 rsgwkkrvip fferaetgra vsreehlfll arfspsgwre lpqvpirgla gdltqqakdi
      121 qnitvqetnk nnsesiecsk itmdlkfnns rkyisitvps ktqtmsphik svddvvvlgm
      181 nlskfnkltq fficvagvfv fyliygylqe lifsvegfks cgwyltlvqf afysifglie
      241 lqliqdkrrr ipgktymiia fltvgtmgls ntslgylnyp tqvifkcckl ipvmlggvfi
      301 qgkrynvadv saaicmslgl iwftladstt apnfnltgiv fvfnwfcihf tgidmh
//
LOCUS       XP_005249551            2089 aa            linear   PRI 20-MAR-2023
DEFINITION  mediator of DNA damage checkpoint protein 1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_005249551
VERSION     XP_005249551.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005249494.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2089
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..2089
                     /product="mediator of DNA damage checkpoint protein 1
                     isoform X3"
                     /calculated_mol_wt=226536
     Region          32..131
                     /region_name="FHA_MDC1"
                     /note="forkhead associated (FHA) domain found in mediator
                     of DNA damage checkpoint protein 1 (MDC1) and similar
                     proteins; cd22665"
                     /db_xref="CDD:438717"
     Site            order(58,69..73,95..96,124..125)
                     /site_type="other"
                     /note="phosphopeptide binding site [polypeptide binding]"
                     /db_xref="CDD:438717"
     Region          822..>962
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     Region          <943..1376
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     Region          <1227..1757
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1893..1963
                     /region_name="BRCT_MDC1_rpt1"
                     /note="first BRCT domain of mediator of DNA damage
                     checkpoint protein 1 (MDC1) and similar proteins; cd17744"
                     /db_xref="CDD:349375"
     Site            order(1898..1899,1932..1934,1936)
                     /site_type="other"
                     /note="histone H2AX interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:349375"
     Region          1995..2075
                     /region_name="BRCT_MDC1_rpt2"
                     /note="second BRCT domain of mediator of DNA damage
                     checkpoint protein 1 (MDC1) and similar proteins; cd18441"
                     /db_xref="CDD:349394"
     Site            order(2008..2009,2043..2044,2066)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:349394"
     Site            2008..2009
                     /site_type="other"
                     /note="gamma-H2AX interaction site [polypeptide binding]"
                     /db_xref="CDD:349394"
     CDS             1..2089
                     /gene="MDC1"
                     /gene_synonym="NFBD1"
                     /coded_by="XM_005249494.6:37..6306"
                     /db_xref="GeneID:9656"
                     /db_xref="HGNC:HGNC:21163"
                     /db_xref="MIM:607593"
ORIGIN      
        1 medtqaidwd veeeeeteqs seslrcnvep vgrlhifsga hgpekdfplh lgknvvgrmp
       61 dcsvalpfps iskqhaeiei lawdkapilr dcgslngtqi lrppkvlspg vshrlrdqel
      121 ilfadllcqy hrldvslpfv srgpltveet prvqgetqpq rlllaedsee evdflserrm
      181 vkksrttsss vivpesdeeg hspvlgglgp pfafnlnsdt dveegqqpat eeassaarrg
      241 atveakqsea evvteiqlek dqplvkerdn dtkvkrgagn gvvpagvile rsqppgedsd
      301 tdvdddsrpp grpaevhler aqpfgfidsd tdaeeeripa tpvvipmkkr kifhgvgtrg
      361 pgapglahlq esqagsdtdv eegkapqavp leksqasmvi nsdtddeeev saaltlahlk
      421 esqpaiwnrd aeedmpqrvv llqrsqttte rdsdtdveee elpvenreav lkdhtkiral
      481 vrahsekdqp pfgdsddsve adksspgihl ersqasttvd intqvekevp pgsaiihikk
      541 hqvsvegtnq tdvkavggpa kllvvsleea wplhgdcetd aeegtsltas vvadvrksql
      601 paegdagaew aaavlkqera hevgaqggpp vaqveqdlpi srenltdlvv dtdtlgestq
      661 pqregaqvpt grereqhvgg tkdsednygd sedldlqatq cflenqglea vqsmedeptq
      721 afmltppqel gpshcsfqtt gtldepwevl atqpfclres edsetqpfdt hleaygpcls
      781 ppraipgdqh pespvhtepm giqgrgrqtv dkvmgipket aervgpergp leretekllp
      841 erqtdvtgee eltkgkqdre qkqllardtq rqesdknges asperdresl kveietseei
      901 qekqvqkqtl pskafereve rpvanrecdp aeleekvpkv ilerdtqrge peggsqdqkg
      961 qassptpepg vgagdlpgpt sapvpsgsqs ggrgspvspr rhqkgllnck mppaekasri
     1021 raaekvsrgd qespdaclpp tvpeapappq kplnsqsqkh lapppllspl lpsikptvrk
     1081 trqdgsqeap eaplsselep fhpkpkirtr kssrmtpfpa tsaapephps tstaqpvtpk
     1141 ptsqatrsrt nrssvktpep vvptapelqp ststdqpvts eptsqvtrgr ksrssvktpe
     1201 tvvptalelq pststdrpvt septsqatrg rknrssvktp epvvptapel qpststdqpv
     1261 tseptyqatr grknrssvkt pepvvptape lrpststdrp vtpkptsrtt rsrtnmssvk
     1321 tpetvvptap elqiststdq pvtpkptsrt trsrtnmssv knpestvpia pelppstste
     1381 qpvtpeptsr atrgrknrss gktpetlvpt apklepstst dqpvtpepts qatrgrtnrs
     1441 svktpetvvp tapelqpsts tdqpvtpept sqatrgrtdr ssvktpetvv ptapelqasa
     1501 stdqpvtsep tsrttrgrkn rssvktpetv vpaapelqps tstdqpvtpe ptsratrgrt
     1561 nrssvktpes ivpiapelqp stsrnqlvtp eptsratrcr tnrssvktpe pvvptapeph
     1621 pttstdqpvt pkltsratrr ktnrssvktp kpvepaasdl epftptdqsv tpeaiaqggq
     1681 sktlrsstvr ampvpttpef qspvttdqpi spepitqpsc ikrqraagnp gslaapidhk
     1741 pcsaplepks qasrnqrwga vraaesltai pepaspqlle tpihasqiqk vepagrsrft
     1801 pelqpkasqs rkrslatmds pphqkqpqrg evsqktviik eeeedtaekp gkeedvvtpk
     1861 pgkrkrdqae eepnripsrs lrrtklnqes tapkvlftgv vdargeravl alggslagsa
     1921 aeashlvtdr irrtvkflca lgrgipilsl dwlhqsrkag fflppdeyvv tdpeqeknfg
     1981 fslqdalsra rerrllegye iyvtpgvqpp ppqmgeiisc cggtylpsmp rsykpqrvvi
     2041 tcpqdfphcs iplrvglpll speflltgvl kqeakpeafv lsplemsst
//
LOCUS       XP_016868674             742 aa            linear   PRI 20-MAR-2023
DEFINITION  disintegrin and metalloproteinase domain-containing protein 32
            isoform X5 [Homo sapiens].
ACCESSION   XP_016868674
VERSION     XP_016868674.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017013185.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..742
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..742
                     /product="disintegrin and metalloproteinase
                     domain-containing protein 32 isoform X5"
                     /calculated_mol_wt=82772
     Region          2..99
                     /region_name="Pep_M12B_propep"
                     /note="Reprolysin family propeptide; pfam01562"
                     /db_xref="CDD:426325"
     Region          142..336
                     /region_name="ZnMc_adamalysin_II_like"
                     /note="Zinc-dependent metalloprotease; adamalysin_II_like
                     subfamily. Adamalysin II is a snake venom zinc
                     endopeptidase. This subfamily contains other snake venom
                     metalloproteinases, as well as membrane-anchored
                     metalloproteases belonging to the ADAM family; cd04269"
                     /db_xref="CDD:239797"
     Site            order(276..277,280,286)
                     /site_type="active"
                     /db_xref="CDD:239797"
     Region          355..429
                     /region_name="Disintegrin"
                     /note="pfam00200"
                     /db_xref="CDD:425520"
     Region          434..571
                     /region_name="ACR"
                     /note="ADAM Cysteine-Rich Domain; smart00608"
                     /db_xref="CDD:214743"
     Region          669..741
                     /region_name="SEEEED"
                     /note="Serine-rich region of AP3B1, clathrin-adaptor
                     complex; pfam14797"
                     /db_xref="CDD:434218"
     CDS             1..742
                     /gene="ADAM32"
                     /coded_by="XM_017013185.3:179..2407"
                     /db_xref="GeneID:203102"
                     /db_xref="HGNC:HGNC:15479"
                     /db_xref="MIM:618602"
ORIGIN      
        1 meqisyiipi deklytvhlk qryfladnfm iylynqgsmn tyssdiqtqc yyqgniegyp
       61 dsmvtlstcs glrgilqfen vsygieples avefqhvlyk lknedndiai fidrslkeqp
      121 mddnifisek sepavpdlfp lylemhivvd ktlydywgsd smivtnkvie ivglansmft
      181 qfkvtivlss lelwsdenki stvgeadell qkflewkqsy lnlrphdiay lliymdypry
      241 lgavfpgtmc itrysagval ypkeitleaf avivtqmlal slgisyddpk kcqcsestci
      301 mnpevvqsng vktfsscslr sfqnfisnvg vkclqnkpqm qkkspkpvcg ngrlegneic
      361 dcgteaqcgp asccdfrtcv lkdgakcykg lcckdcqilq sgvecrpkah pecdiaencn
      421 gtspecgpdi tlinglsckn nkficydgdc hdldarcesv fgkgsrnapf acyeeiqsqs
      481 drfgncgrdr nnkyvfcgwr nlicgrlvct yptrkpfhqe ngdviyafvr dsvcitvdyk
      541 lprtvpdpla vkngsqcdig rvcvnrecve sriikasahv csqqcsghgv cdsrnkchcs
      601 pgykppncqi rskgfsifpe edmgsimera sgktentwll gflialpili vttaivlark
      661 qlkkwfakee efpsseskse gstqtyasqs ssegstqtya sqtrsesssq adtsksksed
      721 saeaytsrsk sqdstqtqss sn
//
LOCUS       XP_024303146             318 aa            linear   PRI 20-MAR-2023
DEFINITION  serine palmitoyltransferase 1 isoform X3 [Homo sapiens].
ACCESSION   XP_024303146
VERSION     XP_024303146.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024447378.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..318
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..318
                     /product="serine palmitoyltransferase 1 isoform X3"
                     /calculated_mol_wt=35135
     Region          <1..317
                     /region_name="AAT_I"
                     /note="Aspartate aminotransferase (AAT) superfamily (fold
                     type I) of pyridoxal phosphate (PLP)-dependent enzymes.
                     PLP combines with an alpha-amino acid to form a compound
                     called a Schiff base or aldimine intermediate, which
                     depending on the reaction, is the...; cl18945"
                     /db_xref="CDD:450240"
     Site            order(12..13,16,90,119,122,151,154)
                     /site_type="other"
                     /note="pyridoxal 5'-phosphate binding pocket [chemical
                     binding]"
                     /db_xref="CDD:99742"
     Site            154
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:99742"
     CDS             1..318
                     /gene="SPTLC1"
                     /gene_synonym="HSAN1; HSN1; LBC1; LCB1; SPT1; SPTI"
                     /coded_by="XM_024447378.2:218..1174"
                     /db_xref="GeneID:10558"
                     /db_xref="HGNC:HGNC:11277"
                     /db_xref="MIM:605712"
ORIGIN      
        1 mkteeaiiys ygfatiasai payskrgdiv fvdraacfai qkglqasrsd iklfkhndma
       61 dlerllkeqe iedqknprka rvtrrfivve glymntgtic plpelvklky kykariflee
      121 slsfgvlgeh grgvtehygi niddidlisa nmenalasig gfccgrsfvi dhqrlsgqgy
      181 cfsaslppll aaaaiealni meenpgifav lkekcgqihk alqgisglkv vgeslspafh
      241 lqleestgsr eqdvrllqei vdqcmnrsia ltqaryleke ekclpppsir vvvtveqtee
      301 eleraastik evaqavll
//
LOCUS       XP_047279334            2256 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 187 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047279334
VERSION     XP_047279334.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423378.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2256
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..2256
                     /product="coiled-coil domain-containing protein 187
                     isoform X2"
                     /calculated_mol_wt=240013
     Region          <1311..>1393
                     /region_name="PRK14965"
                     /note="DNA polymerase III subunits gamma and tau;
                     Provisional"
                     /db_xref="CDD:237871"
     Region          <1386..1627
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     CDS             1..2256
                     /gene="CCDC187"
                     /coded_by="XM_047423378.1:265..7035"
                     /db_xref="GeneID:399693"
                     /db_xref="HGNC:HGNC:30942"
ORIGIN      
        1 mptlvvgtpp tclgdtpqpc hknsqrqgpf shgapgraad wkavakprlc apaaeddvaa
       61 lrwpgpsqqp dppwaaphvv gsddlkepgp wgkacslpmw stgpeardgd ssvssgrlsc
      121 ssgghdvcvs wkerppqvlg pqqrprksda rleqlrdkir aqawqqgsca slgtsapssa
      181 srlhkastlm lrrkgqeakn pppapecsgf silsaaerrv eakashgqgr elsrvsqhqv
      241 pvlrekpkrv ksssckrekt pklpsprraa kdkhkdedse lvgvyawrkg qalvrsllgp
      301 ppvlrrhhsk dpsrdpaltv dlgdsekvia akcspvcaql pdatsaysdq qvsgntpsla
      361 sfdqpatiqt amailqdlrq qiqaglelaq arkggqelgp skrrlqdvag rgccrdpnaq
      421 ssfskspwam terkhssler arsvhtwepw ssstarescp qrawgaqgqd rsfqrpesph
      481 erlghfsqrp wsalagqacs pqrawgaqrq gpssqrpgsp pekrspfpqq pwsavatqpc
      541 prrawtacet wedpgprlrn plerpsppaq rpwsssgvqr agpqgkgrgi gspvsaakha
      601 lprptgsfpq nplgkekdtl rpcprsrgll gpshsseslr efmrqkaqar rrqaleekas
      661 alrtrelrsr rlqevyrqqr eavlgravpv vsrttpgivt fvpssaqsgg leasgslesp
      721 vlewskvtsg mvlggqeapg sfclclnraw nhaetldppg mggpqdgrda pvllsaspsl
      781 gslelqdltt rylprgmciy ldpkeaehlg tssslhlrhk qaqlqalett akvlkqrvds
      841 ltaklqgaea ldtvrdpavg llrscphslp aaptlatptl atpacpgalg pnwgrgapge
      901 wvsmqpqpll pptyfldget lswgpsweqq qsvsprahce skprgfpeeg hvdvkpdkrl
      961 qrgvapfqal spsagssyag patlhpiwgs lgleetpsvg gadsvapctp rscgqqedpc
     1021 vrclpntqqk tssfldslkl dqqkqalall rqraeleare tqqtldgllf rrrlevaaac
     1081 hrgspclcrr lggkqlmerh stqarpeeal kleqppmckd repttasqst gmatprshpp
     1141 ldtdaatssq gpedrpenvv akpasaeveg pdgalsqlpl akffppdnpt hqlqmlersl
     1201 reeelraqhq aallrlrema lqektlaela wlehrrgcld skrdravlaa lvekqqqals
     1261 rlekeqreiq ylrhtqlfrh rdrklllqhq rdvvsmpgpv dilpipgptd vvpahelqaq
     1321 aklqqgsspk vkaaweggse tsqqpeaslc pltpcrpsss tshrpqsspa sskatrppte
     1381 qqdvtppqtt sdadghqqpp rpawgedthd pqgplvesgs hvsqepgeqp rapllglqhv
     1441 sppdgqrlgp afpaeeaegr lptaqcrsre vkepppgdpq tkpgpslagk praptdshvg
     1501 sfrersrrsc gregpcgpqe asqvaedsms eeglesgldf aespveesqe teswrsgeqr
     1561 cgaelpgagv erearrrvqp vppvpllwgp slspgtpvlp ghspaptlsp pgsdplleik
     1621 mspmnqpkvs raasnplgva apppslppdp vglrldapkd kpsgspcpqg hsgggrglag
     1681 mffecelwte pggvpdsgpw grgqedqdph rvlhecacrt eacqqevpgi sstwleaaqa
     1741 aaspapvvpe eaappilhqg spllpttssc gpgsesasgt cwgpseeatv sshtspagsv
     1801 sslscpslwe fqkaaatliq lsgsssslps leaedspdeg fswpgelsar hssgeaglpl
     1861 swrsnqgepr pgsapggggw vtwqrpqgrr agplrgssld tamaevsape qspkagwllp
     1921 fpdipsprsg selseasskv weedceedlp epctgakpas gsslpaggsl glgsgvepqv
     1981 appsprsgeg reasgtsesl kggvrsgmep qvalpspwpg egleasgtse slmgvsdtge
     2041 alqappeaag vvfplqissa gdsdsllvfp swtslsegad fgkggetsgy qegtrdadps
     2101 pstksklpyl mpepetpvtl qappgdpgrl appvaesrap gpggngaptv leeacpllag
     2161 dvlteilspv dellsygsad lpssihreap lppppptpqa qsdgedtnpc sdafpsppsg
     2221 pleedtaitt qdlsslsees lpeglfpgpq gsagtq
//
LOCUS       XP_016870434             742 aa            linear   PRI 20-MAR-2023
DEFINITION  non-lysosomal glucosylceramidase isoform X11 [Homo sapiens].
ACCESSION   XP_016870434
VERSION     XP_016870434.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014945.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..742
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..742
                     /product="non-lysosomal glucosylceramidase isoform X11"
                     /calculated_mol_wt=82466
     Region          <79..270
                     /region_name="Glyco_hydr_116N"
                     /note="beta-glucosidase 2, glycosyl-hydrolase family 116
                     N-term; pfam12215"
                     /db_xref="CDD:432405"
     Region          336..699
                     /region_name="DUF608"
                     /note="Glycosyl-hydrolase family 116, catalytic region;
                     pfam04685"
                     /db_xref="CDD:428065"
     CDS             1..742
                     /gene="GBA2"
                     /gene_synonym="AD035; NLGase; SPG46"
                     /coded_by="XM_017014945.1:125..2353"
                     /db_xref="GeneID:57704"
                     /db_xref="HGNC:HGNC:18986"
                     /db_xref="MIM:609471"
ORIGIN      
        1 mrkvtssqca cvgkgrlcts kscpwsaqvs saagtgacvg tllstmpsip epglsisfla
       61 rmspspavrs hpscpmttss lpvgvfvwdv enegdealdv simfsmrngl gggddapggl
      121 wnepfclers getvrglllh hptlpnpytm avaarvtaat tvthitafdp dstgqqvwqd
      181 llqdgqldsp tgqstptqkg vgiagavcvs sklrprgqcr lefslawdmp rimfgakgqv
      241 hyrrytrffg qdgdaapals hyalcryaew eerisawqsp vlddrslpaw yksalfnely
      301 fladggtvwl evledslpee lgrnmchlrp tlrdygrfgy legqeyrmyn tydvhfyasf
      361 alimlwpkle lslqydmala tlredltrrr ylmsgvmapv krrnviphdi gdpddepwlr
      421 vnaylihdta dwkdlnlkfv lqvyrdyylt gdqnflkdmw pvclavmese mkfdkdhdgl
      481 ienggyadqt ydgwvttgps aycgglwlaa vavmvqmaal cgaqdiqdkf ssilsrgqea
      541 yerllwngry ynydsssrpq srsvmsdqca gqwflkacgl gegdtevfpt qhvvralqti
      601 felnvqafag gamgavngmq phgvpdkssv qsdevwvgvv yglaatmiqe gltwegfqta
      661 egcyrtvwer lglafqtpea ycqqrvfrsl aymrplsiwa mqlalqqqqh kkaswpkvkq
      721 gtglrtgpmf gpkeamanls pe
//
LOCUS       XP_016870723             562 aa            linear   PRI 20-MAR-2023
DEFINITION  aminopeptidase O isoform X12 [Homo sapiens].
ACCESSION   XP_016870723
VERSION     XP_016870723.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017015234.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..562
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..562
                     /product="aminopeptidase O isoform X12"
                     /calculated_mol_wt=64467
     Region          <127..355
                     /region_name="GluZincin"
                     /note="Gluzincin Peptidase family (thermolysin-like
                     proteinases, TLPs) which includes peptidases M1, M2, M3,
                     M4, M13, M32 and M36 (fungalysins); cl14813"
                     /db_xref="CDD:449360"
     Region          424..>474
                     /region_name="Leuk-A4-hydro_C"
                     /note="Leukotriene A4 hydrolase, C-terminal; pfam09127"
                     /db_xref="CDD:430422"
     CDS             1..562
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /coded_by="XM_017015234.3:913..2601"
                     /db_xref="GeneID:84909"
                     /db_xref="HGNC:HGNC:1361"
                     /db_xref="MIM:619600"
ORIGIN      
        1 mlsgygtkln lkgdrlhgpq trvaecsswy yyvtmpmpas tftiavgcwt emkmetwssn
       61 dlaterpfsp seanfrhvgv cshmeypcrf qnasattqei iphrvfapvc ltgacqetll
      121 rlippclsaa hsvlgahpfs rldvlivpan fpslgmasph imflsqsilt ggnhlcgtrl
      181 cheiahawfg laigardwte ewlsegfath ledvfwataq qlapyeareq qelraclrwr
      241 rlqdemqcsp eemqvlrpsk dktghtsdsg asvikhglnp ekifmqvhyl kgyfllrfla
      301 krlgdetyfs flrkfvhtfh gqlilsqdfl qmllenipee krlelsveni yqdwlessgi
      361 pkplqrerra gaecglarqv raevtkwigv nrrprkrkrr ekeevfekll pdqlvllleh
      421 lleqktlspr tlqslqrtyh lqdqdaevrh rwcelivkhk ftkayksver flqedqerpq
      481 qdsfirllla wgtrleltld ikggimwllk psahspvhil vllfprgwsq pgthkrqilv
      541 naaslpggcl lpwiwsgaal rf
//
LOCUS       XP_047280165            1209 aa            linear   PRI 20-MAR-2023
DEFINITION  protein phosphatase 1 regulatory subunit 26 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047280165
VERSION     XP_047280165.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424209.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1209
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1209
                     /product="protein phosphatase 1 regulatory subunit 26
                     isoform X1"
                     /calculated_mol_wt=127221
     Region          1..852
                     /region_name="PPP1R26_N"
                     /note="Protein phosphatase 1 regulatory subunit 26
                     N-terminus; pfam15740"
                     /db_xref="CDD:434898"
     Region          <762..>1040
                     /region_name="PRK07003"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:235906"
     CDS             1..1209
                     /gene="PPP1R26"
                     /gene_synonym="KIAA0649; NRBE3"
                     /coded_by="XM_047424209.1:496..4125"
                     /db_xref="GeneID:9858"
                     /db_xref="HGNC:HGNC:29089"
                     /db_xref="MIM:614056"
ORIGIN      
        1 mflmnaspvv alqskweafg ppgscrfprc fseadegves asvsarvqml istlqrdgaa
       61 rgtsderaaq rghraegchd arpaakptvh keppalavcg lvadfdpmge eettdfgplv
      121 ldsdsddsvd rdieeaiqey lkaksgaaqp gaggaqpgaa qpsraagggs rckpepahgs
      181 aptalcppkl vpgsgggpgs qvgsskdqgs aspvsvssdd sfeqsiraei eqflnekrqh
      241 etqkcdgsve kkpdtnensa ksllkshqep ptkvvhrqgl lgvqkefafr kpprlakmnv
      301 qprslrskvt ttqenegstk patpcrpsea aqnkggikrs asaarrgkrv msaaqaseas
      361 dsssddgiee aiqlyqlqkt rkeadgdlpq rvqlreerap dppahstssa tksalpethr
      421 ktpskkklva tktmdpgpgg ldtdhapkll ketkapppas pasrsefver sscradtsae
      481 lmcaeaildi sktilpapve gsdgslsasp lfyspnvpsr sdgdsssvds ddsieqeirt
      541 flalkaqsgs llargescpq aaqgpllppg lnsqtgghkt plsktpdpll gckrkrrggg
      601 hvrpstpkkm qevvkdgsqd adhsqgraep gherrdlpiq gkasealgge gtargpgdtr
      661 msqgqgktde arrldekess edksssldsd edldtaikdl lrskrklkkr crepraacrk
      721 kvrfstaqth fleqlgglrr dwkdrgppvl ksclskskrd sgegpgkkpp svfgstaerm
      781 rqegaasqda alafrvrrpa sasasegnpf presqgpaps pgslsddsss vdsndsiele
      841 irkflaekak esvsssevqa egptalgtgg parpevlcrk epapppgvct rsqrargvph
      901 laeglrgtes agaqgtaglf sqggkglpaa pargdpvppr stsggvsakg lsvsrrnvyv
      961 hkdqsprgae paaksafgql pscatagtea ggargtfhmg cgspsfltps pgaerdagaq
     1021 adrtppwsdf ahqsrlpspw vlrsegrdav wrggvgserd kgsegpargl pslplagfsp
     1081 llstqlfhfg kgvswggrqa glfsphlglp lqgpsfsafr eaqagpspvf gsphllakkd
     1141 ggpwptrkaq aglslhdrrs sgseesildl ryrrrvnrdd qeqdalgsda sdfsdtsted
     1201 sggssvvkv
//
LOCUS       XP_024308093             102 aa            linear   PRI 20-MAR-2023
DEFINITION  G antigen 10 isoform X1, partial [Homo sapiens].
ACCESSION   XP_024308093
VERSION     XP_024308093.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024452325.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: incomplete on the amino end.
FEATURES             Location/Qualifiers
     source          1..102
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         <1..102
                     /product="G antigen 10 isoform X1"
     Region          <25..96
                     /region_name="GAGE"
                     /note="GAGE protein; pfam05831"
                     /db_xref="CDD:428642"
     CDS             1..102
                     /gene="GAGE10"
                     /gene_synonym="GAGE-10"
                     /coded_by="XM_024452325.1:<1..309"
                     /db_xref="GeneID:102724473"
                     /db_xref="HGNC:HGNC:30968"
                     /db_xref="MIM:300737"
ORIGIN      
        1 nlffictptr ipqpeqfsde vepatpeege patqrqdpaa aqegedegas agqgpkpead
       61 sqeqvhpktg cecgdgpdgq emglpnpeev krpeegekqs qc
//
LOCUS       XP_047298269             206 aa            linear   PRI 20-MAR-2023
DEFINITION  tumor necrosis factor receptor superfamily member 27 isoform X16
            [Homo sapiens].
ACCESSION   XP_047298269
VERSION     XP_047298269.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442313.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..206
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..206
                     /product="tumor necrosis factor receptor superfamily
                     member 27 isoform X16"
                     /calculated_mol_wt=22731
     Region          3..118
                     /region_name="TNFRSF"
                     /note="Tumor necrosis factor receptor superfamily
                     (TNFRSF); cl22855"
                     /db_xref="CDD:451430"
     Region          44..83
                     /region_name="CRD2"
                     /note="CRD2 [structural motif]"
                     /db_xref="CDD:276900"
     CDS             1..206
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /coded_by="XM_047442313.1:95..715"
                     /db_xref="GeneID:60401"
                     /db_xref="HGNC:HGNC:17756"
                     /db_xref="MIM:300276"
ORIGIN      
        1 mdcqeneywd qwgrcvtcqr cgpgqelskd cgygeggday ctacpprryk sswghhrcqs
       61 citcavinrv qkvnctatsn avcgdclprf yrktrigglq dqecipctkq tptsevqcaf
      121 qlslveadtp tvppqeatlv alevccslrl ikqqrrnlss pchparrpvl spkslgplaa
      181 lpscslwtlf lyhnssrglk cdvhks
//
LOCUS       XP_011542266            1437 aa            linear   PRI 20-MAR-2023
DEFINITION  lysine-specific demethylase 6A isoform X4 [Homo sapiens].
ACCESSION   XP_011542266
VERSION     XP_011542266.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011543964.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1437
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1437
                     /product="lysine-specific demethylase 6A isoform X4"
                     /calculated_mol_wt=158183
     Region          93..121
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(94,97..98,101..102,104,131,134..135,138..139,
                     141..142,165,171..172,175..176,179)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          106..399
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          129..159
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          164..194
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          205..233
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          243..278
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(285,288..289,292..293,295,319,322..323,326..327,
                     329..330,353,356..357,360..361,364)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          285..312
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          317..347
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          352..378
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1099..1163
                     /region_name="JmjC"
                     /note="A domain family that is part of the cupin
                     metalloenzyme superfamily; smart00558"
                     /db_xref="CDD:214721"
     Region          1133..1241
                     /region_name="JmjC"
                     /note="JmjC domain, hydroxylase; pfam02373"
                     /db_xref="CDD:396791"
     CDS             1..1437
                     /gene="KDM6A"
                     /gene_synonym="bA386N14.2; KABUK2; UTX"
                     /coded_by="XM_011543964.4:365..4678"
                     /db_xref="GeneID:7403"
                     /db_xref="HGNC:HGNC:12637"
                     /db_xref="MIM:300128"
ORIGIN      
        1 mkscgvslat aaaaaaafgd eekkmaagka sgeseeasps ltaeerealg gldsrlfgfv
       61 rfhedgartk allgkavrcy eslilkaegk vesdffcqlg hfnllledyp kalsayqryy
      121 slqsdywkna aflyglglvy fhynafqwai kafqevlyvd psfcrakeih lrlglmfkvn
      181 tdyesslkhf qlalvdcnpc tlsnaeiqfh iahlyetqrk yhsakeayeq llqtenlsaq
      241 vkatvlqqlg wmhhtvdllg dkatkesyai qylqkslead pnsgqswyfl grcyssigkv
      301 qdafisyrqs idkseasadt wcsigvlyqq qnqpmdalqa yicavqldhg haaawmdlgt
      361 lyescnqpqd aikcylnatr skscsntsal aarikylqaq lcnlpqgslq nktkllpsie
      421 eawslpipae ltsrqgamnt aqqntsdnws gghavshppv qqqahswclt pqklqhleql
      481 ranrnnlnpa qklmleqles qfvlmqqhqm rptgvaqvrs tgipngptad sslptnsvsg
      541 qqpqlaltrv psvsqpgvrp acpgqplang pfsaghvpcs tsrtlgstdt ilignnhitg
      601 sgsngnvpyl qrnaltlphn rtnltssaee pwknqlsnst qglhkgqssh sagpngerpl
      661 sstgpsqhlq aagsgiqnqn ghptlpsnsv tqgaalnhls shtatsggqq gitltkeskp
      721 sgniltvpet srhtgetpns tasveglpnh vhqmtadavc spshgdsksp gllssdnpql
      781 sallmgkann nvgtgtcdkv nnihpavhtk tdnsvassps saistatpsp ksteqtttns
      841 vtslnsphsg lhtingegme esqspmktdl llvnhkpspq iipsmsvsiy pssaevlkac
      901 rnlgknglsn ssilldkcpp prppsspypp lpkdklnppt psiylenkrd affpplhqfc
      961 tnpnnpvtvi rglagalkld lglfstktlv eannehmvev rtqllqpade nwdptgtkki
     1021 whcesnrsht tiakyaqyqa ssfqeslree nekrshhkdh sdsestssdn sgrrrkgpfk
     1081 tikfgtnidl sddkkwklql heltklpafv rvvsagnlls hvghtilgmn tvqlymkvpg
     1141 srtpghqenn nfcsvninig pgdcewfvvp egywgvlndf ceknnlnflm gswwpnledl
     1201 yeanvpvyrf iqrpgdlvwi nagtvhwvqa igwcnniawn vgpltacqyk laveryewnk
     1261 lqsvksivpm vhlswnmarn ikvsdpklfe mikifslspn fraekclrdh lvqplrsnge
     1321 peplrftgey cllrtlkqcq tlrealiaag keiiwhgrtk eepahycsic evevfdllfv
     1381 tnesnsrkty ivhcqdcark tsgnlenfvv leqykmedlm qvydqftlap plpsass
//
LOCUS       XP_054184521             533 aa            linear   PRI 20-MAR-2023
DEFINITION  UDP-glucuronosyltransferase 2A3 isoform X1 [Homo sapiens].
ACCESSION   XP_054184521
VERSION     XP_054184521.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328546.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167250.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..533
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.2"
     Protein         1..533
                     /product="UDP-glucuronosyltransferase 2A3 isoform X1"
                     /calculated_mol_wt=60902
     CDS             1..533
                     /gene="UGT2A3"
                     /coded_by="XM_054328546.1:45..1646"
                     /db_xref="GeneID:79799"
                     /db_xref="HGNC:HGNC:28528"
                     /db_xref="MIM:616382"
ORIGIN      
        1 mrsdksalvf lllqlfcvgc gfcgkvlvwp cdmshwlnvk vileelivrg hevtvlthsk
       61 pslidyrkps alkfevvhmp qdrteeneif vdlalnvlpg lstwqsvikl ndffveirgt
      121 lkmmcesfiy nqtlmkklqe tnydvmlidp vipcgdlmae llavpfvltl risvggnmer
      181 scgklpapls yvpvpmtglt drmtflervk nsmlsvlfhf wiqdydyhfw eefyskalgr
      241 pttlcetvgk aeiwlirtyw dfefpqpyqp nfefvgglhc kpakalpkin fylqemenfv
      301 qssgedgivv fslgslfqnv teekaniias alaqipqkvl wrykgkkpst lgantrlydw
      361 ipqndllghp ktkafithgg mngiyeaiyh gvpmvgvpif gdqldniahm kakgaavein
      421 fktmtsedll ralrtvitds sykenamrls rihhdqpvkp ldravfwief vmrhkgakhl
      481 rsaahdltwf qhysidvigf llacvataif lftkcflfsc qkfnktrkie kre
//
LOCUS       XP_047298834             205 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124904095 isoform X2 [Homo sapiens].
ACCESSION   XP_047298834
VERSION     XP_047298834.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442878.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187612.1) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..205
                     /product="uncharacterized protein LOC124904095 isoform X2"
                     /calculated_mol_wt=21742
     CDS             1..205
                     /gene="LOC124904095"
                     /coded_by="XM_047442878.1:17..634"
                     /db_xref="GeneID:124904095"
ORIGIN      
        1 mrclcfpelw nvlgpaavls fcqhvhtars lvscqdpwdy gtsraafsgh cphlwapvas
       61 rplalgrlgg rgvggagtsl iqaphawpwg lfvlqvprvp pypsssashe wgrgwvrgpq
      121 klplctspar hssskvtkts tsvltgagaq gccavslvtr vgsflsasfr qevisereee
      181 nhvqihggsg dglsirtqpp pflcv
//
LOCUS       XP_054185691             481 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 10 isoform X3 [Homo sapiens].
ACCESSION   XP_054185691
VERSION     XP_054185691.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329716.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_113891.3) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..481
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..481
                     /product="tripartite motif-containing protein 10 isoform
                     X3"
                     /calculated_mol_wt=54906
     CDS             1..481
                     /gene="TRIM10"
                     /gene_synonym="HERF1; RFB30; RNF9"
                     /coded_by="XM_054329716.1:906..2351"
                     /db_xref="GeneID:10107"
                     /db_xref="HGNC:HGNC:10072"
                     /db_xref="MIM:605701"
ORIGIN      
        1 masaasvtsl adevncpicq gtlrepvtid cghnfcracl tryceipgpd leesptcplc
       61 kepfrpgsfr pnwqlanvve nierlqlvst lglgeedvcq ehgekiyffc eddemqlcvv
      121 creagehath tmrfledaaa pyreqihkcl kclrkereei qeiqsrenkr mqvlltqvst
      181 krqqvisefa hlrkfleeqq sillaqlesq dgdilrqrde fdllvageic rfsalieele
      241 eknerparel ltdirstlir cetrkcrkpv avspelgqri rdfpqqalpl qremkmflek
      301 lcfeldyepa hisldpqtsh pklllsedhq raqfsykwqn spdnpqrfdr atcvlahtgi
      361 tggrhtwvvs idlahggsct vgvvsedvqr kgelrlrpee gvwavrlawg fvsalgsfpt
      421 rltlkeqprq vrvsldyevg wvtftnavtr epiytftasf trkvipffgl wgrgssfsls
      481 s
//
LOCUS       XP_054188214             274 aa            linear   PRI 20-MAR-2023
DEFINITION  serine protease 55 isoform X5 [Homo sapiens].
ACCESSION   XP_054188214
VERSION     XP_054188214.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332239.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_018654717.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 9% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..274
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1-22"
     Protein         1..274
                     /product="serine protease 55 isoform X5"
                     /calculated_mol_wt=30341
     CDS             1..274
                     /gene="PRSS55"
                     /gene_synonym="CT153; T-SP1; TSP1; UNQ9391"
                     /coded_by="XM_054332239.1:188..1012"
                     /db_xref="GeneID:203074"
                     /db_xref="HGNC:HGNC:30824"
                     /db_xref="MIM:615144"
ORIGIN      
        1 mppaqsvnvv tdlfsreelg ipesqggwrr rwvsfrgspe elsvvlgtnd ltspsmeike
       61 vasiilhkdf kranmdndia llllaspikl ddlkvpiclp tqpgpatwre cwvagwgqtn
      121 aadknsvktd lmkapmvimd weecskmfpk ltknmlcagy knesydackg dsggplvctp
      181 epgekwyqvg iiswgkscge kntpgiytsl vnynlwiekv tqlegrpfna ekrrtsvkqk
      241 pmgspvsgvp epgsprswll lcplshvlfr aily
//
LOCUS       XP_054189412             403 aa            linear   PRI 20-MAR-2023
DEFINITION  killer cell immunoglobulin-like receptor 3DL2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054189412
VERSION     XP_054189412.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333437.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187641.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..403
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..403
                     /product="killer cell immunoglobulin-like receptor 3DL2
                     isoform X1"
                     /calculated_mol_wt=44301
     CDS             1..403
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /coded_by="XM_054333437.1:34..1245"
                     /db_xref="GeneID:3812"
                     /db_xref="HGNC:HGNC:6339"
                     /db_xref="MIM:604947"
ORIGIN      
        1 msltvvsmac vgffllqgaw plmggqdkpf lsarpstvvp rgghvalqch yrrgfnnfml
       61 ykedrshvpi fhgrifqesf imgpvtpaha gtyrcrgsrp hsltgwstps nplvimvtgn
      121 hrkpsllahp gpllksgetv ilqcwsdvmf ehfflhregi sedpsrlvgq ihdgvskanf
      181 sigplmpvla gtyrcygsvp hspyqlsaps dpldivitgl yekpslsaqp gptvqagenv
      241 tlscsswssy diyhlsrege aherrlravp kvnrtfqadf plgpathggt yrcfgsfral
      301 pcvwsnssdp llvsvtdaav mdqepagdrt vnrqdsdeqd pqevmyaqld hcvfiqrkis
      361 rpsqrpktpl tdtsvytelp naeprskvvs cprapqsgle gvf
//
LOCUS       XP_054190385             756 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 64 isoform X4 [Homo sapiens].
ACCESSION   XP_054190385
VERSION     XP_054190385.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334410.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..756
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..756
                     /product="WD repeat-containing protein 64 isoform X4"
                     /calculated_mol_wt=86522
     CDS             1..756
                     /gene="WDR64"
                     /coded_by="XM_054334410.1:205..2475"
                     /db_xref="GeneID:128025"
                     /db_xref="HGNC:HGNC:26570"
ORIGIN      
        1 mdirkekrln malqmsnfkk alnrfeklve qtaaqkrder aglfihkeda igydkfyasv
       61 qklfgpdvkn qdvkrfyrkl cnntdasadw ceifgyfsse edpiasqlde enlvffvsrk
      121 rrilisgsrr rdviksivki phldllitat qkglitvfnn qmrvqtstnv tdtswitgcd
      181 yllqlkriva ttertiivwd ykaqgssqen yfvikpmdhc llcvcvvplp dhlcrddill
      241 gddggfvnrf tvnsddfgik qakskrklqn qvldsknfks vkrklhndwv mkiryisaln
      301 cfgscsldsn hslvleslkr lednlpvref smprgantfc ycvkanvivt ggddkvirlw
      361 hpnistkpvg klvghmfsia eivtnekdqh vvslssakvf rvwdiqtlsl lqvfhdsqgg
      421 pgdmqiysmi ydanhgmlit gssvmdmypl trmiqdtkqv phthereinv mlynkyfhqv
      481 lticsesiir vweletglqv yqilephgfn tevtsaavde sgflfatgay ngtvriwdfg
      541 sgqemkvlpe gkdwkedehc lrrliflkaq ekhqqlvlal erngtikmiq gkeddiylmv
      601 iwelpdvvpf lqdgkhavhl rmstrdrnma ipfpdveliv ernfsqptdn ptmdllrvnc
      661 idllqvegyn liaagtlngv iilwnfvtst vkkvyrpedc ftvnpdlhpk hfkindilfl
      721 frtpecarrs sqdsicsssq cesskgpqsr kqakht
//
LOCUS       XP_054191480             470 aa            linear   PRI 20-MAR-2023
DEFINITION  flavin-containing monooxygenase 5 isoform X2 [Homo sapiens].
ACCESSION   XP_054191480
VERSION     XP_054191480.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335505.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..470
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..470
                     /product="flavin-containing monooxygenase 5 isoform X2"
                     /calculated_mol_wt=52447
     CDS             1..470
                     /gene="FMO5"
                     /gene_synonym="hBVMO1"
                     /coded_by="XM_054335505.1:101..1513"
                     /db_xref="GeneID:2330"
                     /db_xref="HGNC:HGNC:3773"
                     /db_xref="MIM:603957"
ORIGIN      
        1 mtkkriavig ggvsglssik ccveeglepv cfertddigg lwrfqttvcs vkkqpdfats
       61 gqwevvtese gkkemnvfdg vmvctghhtn ahlplesfpg iekfkgqyfh srdyknpegf
      121 tgkrviiigi gnsggdlave isqtakqvfl strrgawiln rvgdygypad vlfssrlthf
      181 iwkicgqsla nkylekkinq rfdhemfglk pkhralsqhp tlnddlpnri isglvkvkgn
      241 vkeftetaai fedgsreddi davifatgys fdfpfledsv kvvknkisly kkvfppnler
      301 ptlaiigliq plgaimpise lqgrwatqvf kglktlpsqs emmaeiskaq eeidkryves
      361 qrhtiqgdyi dtmeeladlv gvrpnllsla ftdpklalhl llgpctpihy rvqgpgkwdg
      421 arkailttdd rirkplmtrv versssmtst mtigkfmlal affaiiiayf
//
LOCUS       XP_054193572             855 aa            linear   PRI 20-MAR-2023
DEFINITION  protein enabled homolog isoform X9 [Homo sapiens].
ACCESSION   XP_054193572
VERSION     XP_054193572.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337597.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..855
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..855
                     /product="protein enabled homolog isoform X9"
                     /calculated_mol_wt=93504
     CDS             1..855
                     /gene="ENAH"
                     /gene_synonym="ENA; MENA; NDPP1"
                     /coded_by="XM_054337597.1:127..2694"
                     /db_xref="GeneID:55740"
                     /db_xref="HGNC:HGNC:18271"
                     /db_xref="MIM:609061"
ORIGIN      
        1 mppdslipvl rpqqgglstr parghpaasr pgvswpgpvp shasklptpv ptglaprrsr
       61 rlglrtvavg easelpkplg sgrrrgggrr srtttgeepr pttgrrcwag gggggppesq
      121 rgagggvgrq qraslrrrrr rarslpasls avrrgpgrrr ggvrpaprlp fpplpphrpl
      181 apggrrgggr rlrvppprap pppgflaaip tllprlqqlp vahglgggaa saglwsggra
      241 rgpgghpseg grgssgrrsr ttrseqsicq araavmvydd ankkwvpagg stgfsrvhiy
      301 hhtgnntfrv vgrkiqdhqv vincaipkgl kynqatqtfh qwrdarqvyg lnfgskedan
      361 vfasammhal evlnsqetaq skvtatqdst nlrcifcvfy lgptlprqns qlpaqvqngp
      421 sqeeleiqrr qlqeqqrqke lererlerer mererlerer lererlerer leqeqlerer
      481 qererqerle rqerlerqer lerqerldre rqerqererl erlererqer erqeqlereq
      541 lewererris saaapasvet plnsvlgdss asepglqaas qpaetpsqqg ivlgplappp
      601 ppplppgpaq asvalppppg pppppplpst gppppppppp lpnqvppppp pppapplpas
      661 gfflasmsed nrpltglaaa iagaklrkvs rmedtsfpsg gnaigvnsas sktdtgrgng
      721 plplggsglm eemsallarr rriaekgsti eteqkedkge dsepvtskas ststpeptrk
      781 pwertntmng skspvisrpk stplsqpsan gvqtegldyd rlkqdildem rkeltklkee
      841 lidairqels ksnta
//
LOCUS       XP_054194303             340 aa            linear   PRI 20-MAR-2023
DEFINITION  CMP-N-acetylneuraminate-beta-1,4-galactoside
            alpha-2,3-sialyltransferase isoform X11 [Homo sapiens].
ACCESSION   XP_054194303
VERSION     XP_054194303.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338328.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..340
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..340
                     /product="CMP-N-acetylneuraminate-beta-1,4-galactoside
                     alpha-2,3-sialyltransferase isoform X11"
                     /calculated_mol_wt=38177
     CDS             1..340
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /coded_by="XM_054338328.1:267..1289"
                     /db_xref="GeneID:6487"
                     /db_xref="HGNC:HGNC:10866"
                     /db_xref="MIM:606494"
ORIGIN      
        1 mtaifprfsk papmflddsf rkwarirefv ppfgikgqdn likailsvtk eyrltpalds
       61 lrcrrciivg nggvlanksl gsriddydiv vrlnsapvkg fekdvgsktt lritypegam
      121 qrpeqyerds lfvlagfkwq dfkwlkyivy kervsasdgf wksvatrvpk eppeirilnp
      181 yfiqeaaftl iglpfnnglm grgniptlgs vavtmalhgc devavagfgy dmstpnaplh
      241 yyetvrmaai keprphvenl npselrlphf cfdhqpstdp slkpgnlgpv lqqllccyiw
      301 vmggcwrepp icadscffld aqyparervs aeagessrhh
//
LOCUS       XP_054195337            1641 aa            linear   PRI 20-MAR-2023
DEFINITION  eukaryotic translation initiation factor 4 gamma 3 isoform X8 [Homo
            sapiens].
ACCESSION   XP_054195337
VERSION     XP_054195337.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339362.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1641
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1641
                     /product="eukaryotic translation initiation factor 4 gamma
                     3 isoform X8"
                     /calculated_mol_wt=182985
     CDS             1..1641
                     /gene="EIF4G3"
                     /gene_synonym="eIF-4G 3; eIF4G 3; eIF4GII"
                     /coded_by="XM_054339362.1:333..5258"
                     /db_xref="GeneID:8672"
                     /db_xref="HGNC:HGNC:3298"
                     /db_xref="MIM:603929"
ORIGIN      
        1 mnsqpqtrsp psrtvpihct dnwkrrkvle qtpvyrslag rgwikycifa agprpphhqg
       61 gfrpiqffqr pqiqpprati pnsspsirpg aqtptavyqa nqhimmvnhl pmpypvpqgp
      121 qycipqyrhs gppyvgppqq ypvqppgpgp fypgpgpgdf pnaygtpfyp sqpvyqsapi
      181 ivptqqqppp akrekktiri rdpnqggkdi teeimsgggs rnptppigrp tstptppqql
      241 psqvpehspv vygtvesahl aastpvtaas dqkqeekpkp dpvlkspspv lrlvlsgekk
      301 eqegqtsett aivsiaelpl ppspttvssv arstiaapts salssqpift taiddrcels
      361 spredtipip sltsctetsd plptnenddd ickkpcsvap ndiplvsstn lineingvse
      421 klsatesive ivkqevlplt leleilenpp eemklecipa pitpstvpsf pptpptppas
      481 pphtpvivpa aattvsspsa aitvqrvlee desirtclse dakeiqnkie veadgqteei
      541 ldsqnlnsrr spvpaqiait vpktwkkpkd rtrtteemle aelelkaeee lsidkvlese
      601 qdkmsqgfhp erdpsdlkkv kaveengeea epvrngaesv segegidans gstdssgdgv
      661 tfpfkpeswk ptdtegkkqy dreflldfqf mpaciqkpeg lppisdvvld kinqpklpmr
      721 tldprilprg pdftpafadf grqtpggrgv pllnvgsrrs qpgqrreprk iitvsvkedv
      781 hlkkaenawk psqkrdsqad dpeniktqel frkvrsilnk ltpqmfnqlm kqvsgltvdt
      841 eerlkgvidl vfekaideps fsvayanmcr clvtlkvpma dkpgntvnfr klllnrcqke
      901 fekdkadddv fekkqkelea asapeertrl hdeleeakdk arrrsignik figelfklkm
      961 lteaimhdcv vkllknhdee sleclcrllt tigkdldfek akprmdqyfn qmekivkerk
     1021 tssrirfmlq dvidlrlcnw vsrradqgpk tieqihkeak ieeqeeqrkv qqlmtkekrr
     1081 pgvqrvdegg wntvqgakns rvldpskflk itkptideki qlvpkaqlgs wgkgssggak
     1141 asetdalrss asslnrfsal qppapsgstp stpvefdsrr tltsrgsmgr ekndkplpsa
     1201 tarpntfmrg gsskdlldnq sqeeqrreml etvkqltggv dvernsteae rnktresakp
     1261 eisamsahdk aalseeeler ksksiidefl hindfkeamq cveelnaqgl lhvfvrvgve
     1321 stlersqitr dhmgqllyql vqseklskqd ffkgfsetle laddmaidip hiwlylaelv
     1381 tpmlkeggis mreltiefsk pllpvgragv llseilhllc kqmshkkvga lwreadlswk
     1441 dflpegedvh nflleqkldf iesdspcsse alskkelsae elykrlekli iedkandeqi
     1501 fdwveanlde iqmssptflr almtavckaa iiadsstfrv dtavikqrvp illkyldsdt
     1561 ekelqalyal qasivkldqp anllrmffdc lydeevised afykwesskd paeqngkgva
     1621 lksvtafftw lreaeeesed n
//
LOCUS       XP_054223277             696 aa            linear   PRI 20-MAR-2023
DEFINITION  rho-related BTB domain-containing protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054223277
VERSION     XP_054223277.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367302.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..696
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..696
                     /product="rho-related BTB domain-containing protein 1
                     isoform X1"
                     /calculated_mol_wt=79286
     CDS             1..696
                     /gene="RHOBTB1"
                     /coded_by="XM_054367302.1:333..2423"
                     /db_xref="GeneID:9886"
                     /db_xref="HGNC:HGNC:18738"
                     /db_xref="MIM:607351"
ORIGIN      
        1 mdadmdyerp nvetikcvvv gdnavgktrl icaracnttl tqyqllathv ptvwaidqyr
       61 vcqevlersr dvvdevsvsl rlwdtfgdhh kdrrfaygrs dvvvlcfsia npnslnhvks
      121 mwypeikhfc prtpvilvgc qldlryadle avnrarrpla rpikrgdilp pekgrevake
      181 lglpyyetsv fdqfgikdvf dnairaalis rrhlqfwksh lkkvqkpllq apflppkapp
      241 pvikipecps mgtneaacll dnplcadvlf ilqdqehifa hriylatsss kfydlflmec
      301 eespngsega cekekqsrdf qgrilsvdpe eereegppri pqadqwkssn kslvealgle
      361 aegavpetqt ltgwskgfig mhremqvnpi skrmgpmtvv rmdasvqpgp frtllqflyt
      421 gqldekekdl vglaqiaevl emfdlrmmve nimnkeafmn qeitkafhvr kanrikecls
      481 kgtfsdvtfk lddgaisahk pllicscewm aamfggsfve sansevylpn inkismqavl
      541 dylytkqlsp nldldpleli alanrfclph lvalaeqhav qeltkaatsg vgidgevlsy
      601 lelaqfhnah qlaawclhhi ctnynsvcsk frkeiksksa dnqeyferhr wppvwylkee
      661 dhyqrvkrer ekedialnkh rsrrkwcfwn sspava
//
LOCUS       XP_047301622             485 aa            linear   PRI 20-MAR-2023
DEFINITION  G protein-regulated inducer of neurite outgrowth 2-like isoform X1
            [Homo sapiens].
ACCESSION   XP_047301622
VERSION     XP_047301622.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047445666.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..485
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..485
                     /product="G protein-regulated inducer of neurite outgrowth
                     2-like isoform X1"
                     /calculated_mol_wt=50141
     Region          376..477
                     /region_name="GRIN_C"
                     /note="G protein-regulated inducer of neurite outgrowth
                     C-terminus; pfam15235"
                     /db_xref="CDD:434557"
     CDS             1..485
                     /gene="LOC124900631"
                     /coded_by="XM_047445666.1:735..2192"
                     /db_xref="GeneID:124900631"
ORIGIN      
        1 mlneslmeka dawglslple leaamssshp epgpwaplsp rlqplsqsss sllgegreqr
       61 pelhktasst mwqaqlgeas trpqapeeeg nppesmkpar asgpkarpsa gghwrsstvg
      121 nvstmgggdl crlrapsaaa mqrshsdlvr stqmrghsga rkaslscsal gsspvhraql
      181 qpggtsgqgg qapaglerdl apedetsnsa wmlgasqlsv ppldlgdtta hsssaqaepk
      241 aaeqlatttc halppaallc gmremrevga ggcchalpat gilafpklva svsesglqaq
      301 hgvkihcrls gglpghshcc ahlwgpaglv pepgsrtkdv wtmtsandla paeasplsaq
      361 dagvqaapva ackavatsps leapaalhvf pevtlgssle eapspvrdvr wdaegmtwev
      421 ygaavdpevl gvaiqkhlem qfeqlqrapa sedslsvegr rgplravmqs lrrpsccgcs
      481 gaape
//
LOCUS       XP_054225450             749 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Aster-B isoform X14 [Homo sapiens].
ACCESSION   XP_054225450
VERSION     XP_054225450.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369475.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..749
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..749
                     /product="protein Aster-B isoform X14"
                     /calculated_mol_wt=86236
     CDS             1..749
                     /gene="GRAMD1B"
                     /gene_synonym="LINC01059"
                     /coded_by="XM_054369475.1:415..2664"
                     /db_xref="GeneID:57476"
                     /db_xref="HGNC:HGNC:29214"
                     /db_xref="MIM:620179"
ORIGIN      
        1 masstasnsn rstpacspil rkrsrsptpq nqdgdtmvek gsdhssdksp stpeqgvqrs
       61 cssqsgrsgg knskksqswy nvlsptykqr nedfrklfkq lpdterlivd yscalqrdil
      121 lqgrlylsen wicfysnifr wetlltvrlk dicsmtkekt arlipnaiqv ctdsekhfft
      181 sfgardrtym mmfrlwqnal lekplcpkel whfvhqcygn elgltsdded yvppdddfnt
      241 mgyceeipve enevndsssk ssietkpdas pqlpkksitn stltstgsse apvsfdglpl
      301 eeealegdgs lekelaidni mgekiemiap vnspsldfnd nediptelsd ssdthdegev
      361 qafyedlsgr qyvnevfnfs vdklydllft nspfqrdfme qrrfsdiifh pwkkeengnq
      421 srvilytitl tnplapktat vretqtmyka sqesecyvid aevlthdvpy hdyfytinry
      481 tltrvarnks rlrvstelry rkqpwglvkt fieknfwsgl edyfrhlese laktestyla
      541 emhrqspkek asktttvrrr krphahlrvp hleevmspvt tptdedvghr ikhvagstqt
      601 rhipedtpng fhlqsvskll lviscvlvll vilnmmlfyk lwmleyttqt ltawqglrlq
      661 erlpqsqtew aqllesqqky hdtelqkwre iikssvmlld qvrcptfsac pglwergllp
      721 lccekdprly hhppdfslqf ilppghalf
//
LOCUS       XP_054227713             574 aa            linear   PRI 20-MAR-2023
DEFINITION  anti-Muellerian hormone type-2 receptor isoform X3 [Homo sapiens].
ACCESSION   XP_054227713
VERSION     XP_054227713.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371738.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..574
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..574
                     /product="anti-Muellerian hormone type-2 receptor isoform
                     X3"
                     /calculated_mol_wt=62747
     CDS             1..574
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /coded_by="XM_054371738.1:81..1805"
                     /db_xref="GeneID:269"
                     /db_xref="HGNC:HGNC:465"
                     /db_xref="MIM:600956"
ORIGIN      
        1 mlgslglwal lptaveappn rrtcvffeap gvrgstktlg elldtgtelp rairclysrc
       61 cfgiwnltqd raqvemqgcr dsdepgcesl hcdpsprahp spgstlftcs cgtdfcnany
      121 shlpppgspg tpgsqgpqaa pgesiwmalv llglflllll llgsiilall qrknyrvrge
      181 pvpeprpdsg rdwsvelqel pelcfsqqvi regghavvwa gqlqgklvai kafpprsvaq
      241 fqaeralyel pglqhdhivr fitasrggpg rllsgpllvl elhpkgslch yltqytsdwg
      301 sslrmalsla qglaflheer wqngqykpgi ahrdlssqnv liredgscai gdlglalvlp
      361 gltqppawtp tqpqgpaaim eagtqrymap elldktldlq dwgmalrrad iyslalllwe
      421 ilsrcpdlrp dsspppfqla yeaelgntpt sdelwalavq errrpyipst wrcfatdpdg
      481 lrelledcwd adpearltae cvqqrlaala hpqeshpfpe scprgcpplc pedctsipap
      541 tilpcrpqrs achfsvqqgp csrnpqpact lspv
//
LOCUS       XP_054230571             125 aa            linear   PRI 20-MAR-2023
DEFINITION  Protein POLR1D isoform X1 [Homo sapiens].
ACCESSION   XP_054230571
VERSION     XP_054230571.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374596.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..125
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..125
                     /product="Protein POLR1D isoform X1"
                     /calculated_mol_wt=14396
     CDS             1..125
                     /gene="POLR1D"
                     /gene_synonym="AC19; POLR1C; RPA16; RPA9; RPAC2; RPC16;
                     RPO1-3; TCS2"
                     /coded_by="XM_054374596.1:55..432"
                     /db_xref="GeneID:51082"
                     /db_xref="HGNC:HGNC:20422"
                     /db_xref="MIM:613715"
ORIGIN      
        1 mlpsqhqcvi ismeycqark licgsafkvf iavslnrmkc plastnkrfl intikntlps
       61 hkeqdheqke gdkepaksqa qkeenpkkhr shpykhsfra rgsasysppr krssqdkyek
      121 rsnrr
//
LOCUS       XP_054231947            1054 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 6 isoform X9 [Homo sapiens].
ACCESSION   XP_054231947
VERSION     XP_054231947.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375972.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1054
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1054
                     /product="tetratricopeptide repeat protein 6 isoform X9"
                     /calculated_mol_wt=122685
     CDS             1..1054
                     /gene="TTC6"
                     /gene_synonym="C14orf25; NCRNA00291"
                     /coded_by="XM_054375972.1:428..3592"
                     /db_xref="GeneID:319089"
                     /db_xref="HGNC:HGNC:19739"
ORIGIN      
        1 mrrgtrihgs edislmgkmy lktspmqaet peiqaeykfq mgaeesqmsv hkelsetmss
       61 ilqieqedie wgpseaesiv fkpqeisqvq paeelskple dgqptsdske akwvsltaks
      121 peflqiegke ikrmrkrksl rprksskplc dkklhkkipq dysmphlhdl cttipaqelp
      181 vdlrlasrvy htanrkghdt llgkfgtsfl ddrftdeeqt drilygipvm ddnqeyvhip
      241 ptpqgippel aqgtrerahk phlevlgeem yaypeftklf wntaapkfsv pesvmketly
      301 pkyesvqasr lltdklsyks svitlhqhsr tnfwcflprk sasfesiqkw fsaqptqlrr
      361 vkssvdlrke kiiapleikn dmqssikevm fqkakelkrq lqltkqnkte epnyvkesid
      421 difdnmcekh slrnlsltli easkkagisy ivypkkkkmr wkkrlkqqkl ifvheelskp
      481 pkslersash gilpgqkkyl fkvplyerqi rcpslplyln fekfvqakgg ipenidprtw
      541 aldrlieykd asipvkekdd kisvpedppe rvkeppklkl ndyvesdlpq evikyyesev
      601 kilteeindk tkypafaycr rgaiyrklgk lqsamndlqr villeplfln aywhrhliyl
      661 fqdkineald dlnyihkynk nnteaylska eiyrgkkdit lailnytqai kstptdadiy
      721 frrgemyeit nkvlaiddfs kcifydpkrt dallkrglfy cenenwfaai edftallnid
      781 hqnsqartyr giayvkwkfy keatqdfsaa ihldpnnwla lyyrgclfrk snpfralqdy
      841 svsalindgy enlgcflhrg ivyahlklwl laicdfetvi slertitlay vniglihllh
      901 ldnyteaiwq fseairidpl ciqsylcrae tyfklhklkk avnelsraih lqpdgiqlyi
      961 rrgqyllmmk yydlakftiy qiaemdkgls elspmqqali ysfcenhdka ievldgiswn
     1021 raemtmcall akvqmkakrt kgrgwswkpl ssan
//
LOCUS       XP_054172432            1393 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-dependent kinase 12 isoform X3 [Homo sapiens].
ACCESSION   XP_054172432
VERSION     XP_054172432.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316457.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1393
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1393
                     /product="cyclin-dependent kinase 12 isoform X3"
                     /calculated_mol_wt=153942
     CDS             1..1393
                     /gene="CDK12"
                     /gene_synonym="CRK7; CRKR; CRKRS"
                     /coded_by="XM_054316457.1:587..4768"
                     /db_xref="GeneID:51755"
                     /db_xref="HGNC:HGNC:24224"
                     /db_xref="MIM:615514"
ORIGIN      
        1 mpnserhggk kdgsggasgt lqpssgggss nsrerhrlvs khkrhkskhs kdmglvtpea
       61 aslgtvikpl veyddissds dtfsddmafk ldrrenderr gsdrsdrlhk hrhhqhrrsr
      121 dllkakqtek eksqevssks gsmkdrisgs skrsneetdd ygkaqvakss skesrssklh
      181 kektrkerel ksghkdrsks hrkretpksy ktvdspkrrs rsphrkwsds skqddspsga
      241 sygqdydlsp srshtssnyd sykkspgsts rrqsvsppyk epsayqsstr spspysrrqr
      301 svspysrrrs ssyersgsys grspspygrr rssspflskr slsrsplpsr ksmksrsrsp
      361 aysrhssshs kkkrsssrsr hssispvrlp lnsslgaels rkkkeraaaa aaakmdgkes
      421 kgspvflprk enssveakds gleskklprs vkleksapdt elvnvthlnt evknssdtgk
      481 vkldensekh lvkdlkaqgt rdskpialke eivtpketet seketppplp tiaspppplp
      541 tttpppqtpp lpplppipal pqqpplppsq pafsqvpass tstlppsths ktsavssqan
      601 sqppvqvsvk tqvsvtaaip hlktstlppl plppllpgdd dmdspketlp skpvkkekeq
      661 rtrhlltdlp lppelpggdl sppdspepka itppqqpykk rpkiccpryg errqtesdwg
      721 krcvdkfdii giigegtygq vykakdkdtg elvalkkvrl dnekegfpit aireikilrq
      781 lihrsvvnmk eivtdkqdal dfkkdkgafy lvfeymdhdl mgllesglvh fsedhiksfm
      841 kqlmegleyc hkknflhrdi kcsnillnns gqikladfgl arlynseesr pytnkvitlw
      901 yrppelllge erytpaidvw scgcilgelf tkkpifqanl elaqlelisr lcgspcpavw
      961 pdviklpyfn tmkpkkqyrr rlreefsfip saaldlldhm ltldpskrct aeqtlqsdfl
     1021 kdvelskmap pdlphwqdch elwskkrrrq rqsgvvveep ppsktsrket tsgtstepvk
     1081 nsspappqpa pgkvesgagd aigladitqq lnqselavll nllqsqtdls ipqmaqllni
     1141 hsnpemqqql ealnqsisal teatsqqqds etmapeeslk eapsapvilp saeqttleas
     1201 stpadmqnil avllsqlmkt qepagsleen nsdknsgpqg prrtptmpqe eaaacpphil
     1261 ppekrppepp gppppppppp lvegdlssap qelnpavtaa llqllsqpea eppghlpheh
     1321 qalrpmeyst rprpnrtygn tdgpetgfsa idtdernsgp alteslvqtl vknrtfsgsl
     1381 shlgesssyq gtg
//
LOCUS       XP_054173199             827 aa            linear   PRI 20-MAR-2023
DEFINITION  inactive rhomboid protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054173199
VERSION     XP_054173199.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317224.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..827
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..827
                     /product="inactive rhomboid protein 2 isoform X2"
                     /calculated_mol_wt=93265
     CDS             1..827
                     /gene="RHBDF2"
                     /gene_synonym="iRhom2; RHBDL5; RHBDL6; TOC; TOCG"
                     /coded_by="XM_054317224.1:880..3363"
                     /db_xref="GeneID:79651"
                     /db_xref="HGNC:HGNC:20788"
                     /db_xref="MIM:614404"
ORIGIN      
        1 masadknggs vssvsssrlq srkppnlsit ipppeketqa pgeqdsmlpe rknpaylksv
       61 slqeprsrwq essekrpgfr rqaslsqsir kgaaqwfgvs gdwegqrqqw qrrslhhcsm
      121 rygrlkascq rdlelpsqea psfqgtespk pckmpkivdp largrafrhp eemdrphalh
      181 ppltpgvlsl tsftsvrsgy shlprrkrms vahmslqaaa allkgrsvld atgqrcrvvk
      241 rsfafpsfle edvvdgadtf dssffskeem ssmpddvfes pplsasyfrg iphsaspvsp
      301 dgvqiplkey grapvpgprr gkriaskvkh fafdrkkrhy glgvvgnwln rsyrrsisst
      361 vqrqlesfds hrpyftywlt fvhviitllv ictygiapvg faqhvttqlv lrnkgvyesv
      421 kyiqqenfwv gpssidlihl gakfspcirk dgqieqlvlr erdlerdsgc cvqndhsgci
      481 qtqrkdcset latfvkwqdd tgppmdksdl gqkrtsgavc hqdprtceep assgahiwpd
      541 ditkwpicte qarsnhtgfl hmdceikgrp ccigtkgsce ittreycefm hgyfheeatl
      601 csqvhcldkv cgllpflnpe vpdqfyrlwl slflhagvvh clvsvvfqmt ilrdleklag
      661 whriaiifil sgitgnlasa iflpyraevg pagsqfglla clfvelfqsw pllerpwkaf
      721 lnlsaivlfl ficgllpwid niahifgfls glllafaflp yitfgtsdky rkralilvsl
      781 lafaglfaal vlwlyiypin wpwiehltcf pftsrfceky eldqvlh
//
LOCUS       XP_054173500            1880 aa            linear   PRI 20-MAR-2023
DEFINITION  glutamine-rich protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054173500
VERSION     XP_054173500.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317525.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1880
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1880
                     /product="glutamine-rich protein 2 isoform X1"
                     /calculated_mol_wt=203469
     CDS             1..1880
                     /gene="QRICH2"
                     /gene_synonym="SPGF35"
                     /coded_by="XM_054317525.1:279..5921"
                     /db_xref="GeneID:84074"
                     /db_xref="HGNC:HGNC:25326"
                     /db_xref="MIM:618304"
ORIGIN      
        1 mppattvslr eladlsigtp evgavnftal htlivamlkn ldlqntridf qpsspepsrs
       61 lqsvrssfsi phlpapkevp kgaprekrrg vgqapssale sqvkdlggqv edlskqlkrv
      121 dgqvqgiath vqhfsqasgl dlaalewpee qevgvrafdr vrtgsimkda aeelsfarvl
      181 lqrvdelekl fkdreqflel vsrklslvpg aeevtmvtwe eleqaitdgw rasqagsetl
      241 mgfskhggft sltspegtls gdstkqpsie qaldsasglg pdrtasgsgg tahpsdgvss
      301 reqskvpsgt grqqqprard eagvprlhqs stfqfksdsd rhrsreklts tqprrnarpg
      361 pvqqdlplar dqpssvpasq sqvhlrpdrr gleptgmnqp glvpastyph gvvplsmgql
      421 gvpppemddr elipfvvdeq rmlppsvpgr dqqglelpst dqhglvsvsa yqhgmtfpgt
      481 dqrsmeplgm dqrgcvisgm gqqglvppgi dqqgltlpvv dqhglvlpft dqhglvspgl
      541 mpisadqqgf vqpsleatgf iqpgteqhdl iqsgrfqral vqrgayqpgl vqpgadqrgl
      601 vrpgmdqsgl aqpgadqrgl vwpgmdqsgl aqpgrdqhgl iqpgtgqhdl vqsgtgqgvl
      661 vqpgvdqpgm vqpgrfqral vqpgayqpgl vqpgadqidv vqpgadqhgl vqsgadqsdl
      721 aqpgavqhgl vqpgvdqrgl aqpradhqrg lvppgadqrg lvqpgadqhg lvqpgvdqhg
      781 laqpgevqrs lvqpgivqrg lvqpgavqrg lvqpgavqrg lvqpgvdqrg lvqpgavqrg
      841 lvqpgavqhg lvqpgadqrg lvqpgvdqrg lvqpgvdqrg lvqpgmdqrg liqpgadqpg
      901 lvqpgagqlg mvqpgigqqg mvqpqadphg lvqpgayplg lvqpgaylhd lsqsgtyprg
      961 lvqpgmdqyg lrqpgayqpg liapgtklrg sstfqadstg fisvrpyqhg mvppgreqyg
     1021 qvspllasqg laspgidrrs lvppetyqqg lmhpgtdqhs piplstglgs thpdqqhvas
     1081 pgpgehdqvy pdaaqhghaf slfdshdsmy pgyrgpgyls adqhgqegld pnrtrasdrh
     1141 gipaqkapgq dvtlfrspds vdrvlsegse vssevlserr nslrrmsssf ptavetfhlm
     1201 gelsslyvgl kesmkdldee qagqtdleki qfllaqmvkr tippelqeql ktvktlakev
     1261 wqekakverl qrilegegnq eagkelkage lrlqlgvlrv tvadiekela elresqdrgk
     1321 aamensvsea slylqdqldk lrmiiesmlt ssstllsmsm aphkahtlap gqidpeatcp
     1381 acsldvshqv stlvrryeql qdmvnslavs rpskkaklqr qdeellgrvq sailqvqgdc
     1441 eklnittsnl iedhrqkqkd iamlyqglek lekekanreh lemeidvkad ksalatkvsr
     1501 vqfdatteql nhmmqelvak msgqeqdwqk mldrlltemd nkldrleldp vkqlledrwk
     1561 slrqqlrerp plyqadeaaa mrrqllahfh clscdrplet pvtghaipvt pagpglpghh
     1621 sirpytvfel eqvrqhsrnl klgsafprgd laqmeqsvgr lrsmhskmlm niekvqihfg
     1681 gstkassqii rellhaqclg spcykrvtdm adytystvpr rcggshtlty pyhrsrpqhl
     1741 prglypteei qiamkhdevd ilgldghiyk grmdtrlpgi lrkdssgtsk rksqqprphv
     1801 hrppslssng qlpsrpqsaq isagntsgsf plggascqas plalpapfpa hvgplsprrg
     1861 eglgaeggdg cgkeeprvte
//
LOCUS       XP_054197089             913 aa            linear   PRI 20-MAR-2023
DEFINITION  EH domain-binding protein 1 isoform X12 [Homo sapiens].
ACCESSION   XP_054197089
VERSION     XP_054197089.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341114.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..913
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..913
                     /product="EH domain-binding protein 1 isoform X12"
                     /calculated_mol_wt=104599
     CDS             1..913
                     /gene="EHBP1"
                     /gene_synonym="HPC12; NACSIN"
                     /coded_by="XM_054341114.1:636..3377"
                     /db_xref="GeneID:23301"
                     /db_xref="HGNC:HGNC:29144"
                     /db_xref="MIM:609922"
ORIGIN      
        1 masvwkrlqr vgkhaskfqf vasyqelmve ctkkwqpdkl vvvwtrrsrr ksskahswqp
       61 giknpyrgvv vwpvpeniei tvtlfkdpha eefedkewtf vienespsgr rkalatssin
      121 mkqyaspmpt qtdvklkfkp lskkvvsaal qfslsciflr egkatdedmq slaslmsmkq
      181 adignlddfe ednedddenr vnqeekaaki teivnqlnal ssldedqddc ikqanmrsak
      241 sassseelin klnfldeaek dlatvnsnpf ddpdaaelnp fgdpdseepi tetasprkte
      301 dsfynnsynp fkevqtpqyl npfdepeafv tikdsppqst krknirpvdm skylyadssk
      361 teeeeldesn pfyepkstpp pnnlvnpvqe leterrvkrk apappvlspk tgvlnentvs
      421 agkdlstspk pspipspvlg rkpnasqsll vwckevtkny rgvkitnftt swrnglsfca
      481 ilhhfrpdli dykslnpqdi kennkkaydg fasigisrll epsdmhrlls rqeelkerar
      541 vlleqarrda alkagnkhnt ntatpfcnrq lsdqqdeerr rqlrerarql iaearsgvkm
      601 selpsygema aeklkerska sgeqnsklvd lklkkllevq pqvanspssa aqkavtesse
      661 qdmksgtedl rterlqktte rfrnpvvfsk dstvrktqlq sfsqyienrp emkrqrsiqe
      721 dtkkgneeka aitetqrkps edevlnkgfk dtsqyvvgel aaleneqkqi dtraalvekr
      781 lrylmdtgrn teeeeammqe wfmlvnkkna lirrmnqlsl lekehdlerr yellnrelra
      841 mlaiedwqkt eaqkrreqll ldelvalvnk rdalvrdlda qekqaeeede hlertleqnk
      901 gkmakkeekc vlq
//
LOCUS       XP_054199186            1264 aa            linear   PRI 20-MAR-2023
DEFINITION  alsin isoform X5 [Homo sapiens].
ACCESSION   XP_054199186
VERSION     XP_054199186.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343211.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1264
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1264
                     /product="alsin isoform X5"
                     /calculated_mol_wt=138647
     CDS             1..1264
                     /gene="ALS2"
                     /gene_synonym="ALS2CR6; ALSJ; IAHSP; PLSJ"
                     /coded_by="XM_054343211.1:118..3912"
                     /db_xref="GeneID:57679"
                     /db_xref="HGNC:HGNC:443"
                     /db_xref="MIM:606352"
ORIGIN      
        1 mdskkrsste aegskerglv hiwqagsfpi tperlpgwgg ktvlqaalgv khgvlltedg
       61 evysfgtlpw rsgpveicps spilenalvg qyvitvatgs fhsgavtdng vaymwgensa
      121 gqcavanqqy vpepnpvsia dseaspllav rilqlacgee htlalsisre iwawgtgcql
      181 glittafpvt kpqkvehlag rvvlqvacga fhslalvqcl psqdlkpvpe rcnqcsqlli
      241 tmtdkedhvi isdshccplg vtltesqaen hastalspst etldrqeevf entlvandqs
      301 vatelnavsa qitssdamss qqnvmgttei ssarnipsyp dtqavneylr klsdhsvred
      361 sehgekpmps qplleeaipn lhsppttsts alnslvvsca savgvrvaat yeagalslkk
      421 vmnfysttpc etgaqagssa igpeglkdsr eeqvkqesmq gkkssslvdi reeeteggsr
      481 rlslpgllsq vsprllrkaa rvktrtvvlt ptysgeadal lpslrtevwt wgkgkegqlg
      541 hgdvlprlqp lcvkcldgke vihleaggyh slaltaksqv yswgsntfgq lghsdfpttv
      601 prlakissen gvwsiaagrd yslflvdted fqpglyysgr qdptegdnlp enhsgsktpv
      661 llscsklgyi srvtagkdsy lalvdknimg yiaslhelat terrfyskls diksqilrpl
      721 lslenlgttt tvqllqevas rfsklcylig qhgaslssfl hgvkearslv ilkhsslfld
      781 syteyctsit nflvmggfql lakpaidfln knqellqdls evndentqlm eilntlfflp
      841 irrlhnyakv llklatcfev aspeyqklqd ssscyeclal hlgrkrkeae ytlgfwktfp
      901 gkmtdslrkp errllcessn ralslqhagr fsvnwfilfn dalvhaqfst hhvfplatlw
      961 aeplseeagg vnglkittpe eqftlisstp qektkwlrai sqavdqalrg msdlppygsg
     1021 ssvqrqeppi srsakytfyk dprlkdatyd grwlsgkphg rgvlkwpdgk mysgmfrngl
     1081 edgygeyrip nkamnkedhy vghwkegkmc gqgvysyasg evfegcfqdn mrhghgllrs
     1141 gkltssspsm figqwvmdkk agygvfddit rgekymgmwq ddvcqgngvv vtqfglyyeg
     1201 nfhlnkmmgn gvllseddti yegefsddwt lsgkdnsgli eqvgkcsllp yflkvcealv
     1261 lfll
//
LOCUS       XP_054180964             440 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear pore complex protein Nup50 isoform X2 [Homo sapiens].
ACCESSION   XP_054180964
VERSION     XP_054180964.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324989.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..440
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..440
                     /product="nuclear pore complex protein Nup50 isoform X2"
                     /calculated_mol_wt=46732
     CDS             1..440
                     /gene="NUP50"
                     /gene_synonym="NPAP60; NPAP60L"
                     /coded_by="XM_054324989.1:287..1609"
                     /db_xref="GeneID:10762"
                     /db_xref="HGNC:HGNC:8065"
                     /db_xref="MIM:604646"
ORIGIN      
        1 maseevlknr aikkakrrnv gfesdtggaf kgfkglvvps gggrfsgfgs gaggkplegl
       61 sngnnitsap pfasakaaad pkvafgslaa ngpttlvdkv snpktngdsq qpsssglass
      121 kacvgnayhk qlaalncsvr dwivkhvntn plcdltpifk dyekylanie qqhgnsgrns
      181 esesnkvaae tqspslfgst klqqestflf hgnktedtpd kkmevasekk tdpsslgats
      241 asfnfgkkvd ssvlgslssv pltgfsfspg nsslfgkdtt qskpvsspfp tkplegqaeg
      301 dsgeckggde eendeppkvv vtevkeedaf yskkcklfyk kdnefkekgi gtlhlkptan
      361 qktqllvrad tnlgnillnv lippnmpctr tgknnvlivc vpnppidekn atmpvtmlir
      421 vktsedadel hkillekkda
//
LOCUS       XP_054181300            2205 aa            linear   PRI 20-MAR-2023
DEFINITION  calcineurin-binding protein cabin-1 isoform X8 [Homo sapiens].
ACCESSION   XP_054181300
VERSION     XP_054181300.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325325.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2205
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2205
                     /product="calcineurin-binding protein cabin-1 isoform X8"
                     /calculated_mol_wt=244328
     CDS             1..2205
                     /gene="CABIN1"
                     /gene_synonym="CAIN; KB-318B8.7; PPP3IN"
                     /coded_by="XM_054325325.1:139..6756"
                     /db_xref="GeneID:23523"
                     /db_xref="HGNC:HGNC:24187"
                     /db_xref="MIM:604251"
ORIGIN      
        1 miriaalnas stieddhegs fkshktqtke aqeaeafaly hkaldlqkhd rfeesakayh
       61 elleasllre avssgdekeg lkhpglilky styknlaqla aqredletam efyleavmld
      121 stdvnlwyki ghvalrliri plarhafeeg lrcnpdhwpc ldnlitvlyt lsdyttclyf
      181 ickalekdcr yskglvlkek ifeeqpclrk dslrmflkcw kclgesllam ynhlttcepp
      241 rpslgkridl sdyqdpsqpl essmvvtpvn viqpstvstn pavavaepvv sytsvattsf
      301 plhspgllet gapvgdisgg dkskkgvkrk kiseesgeta krrsarvrnt kckkeekvdf
      361 qellmkflps rlrkldpeee ddsfnnyevq seaklesfps igpqrlsfds atfmesekqd
      421 vhefllenlt nggilelmmr ylkamghkfl vrwppglaev vlsvyhswrr hstslpnpll
      481 rdcsnkhikd mmlmslscme lqldqwlltk grssavsprn cpagmvngrf gpdfpgthcl
      541 gdllqlsfas sqrdlfedgw lefvvrvywl karflalqgd meqalenydi ctemlqssta
      601 iqveagaerr divirlpnlh ndsvvsleei dknlkslerc qsleeiqrly eagdykavvh
      661 llrptlctsg fdrakhlefm tsiperpaql lllqdsllrl kdyrqcfecs dvalneavqq
      721 mvnsgeaaak eewvatvtql lmgieqalsa dssgsilkvs ssttglvrlt nnliqvidcs
      781 mavqeeakep hvssvlpwii lhriiwqeed tfhslchqqq lqnpaeegms etpmlpsslm
      841 llntaheylg rrswccnsdg allrfyvrvl qkelaastse dthpykeele taleqcfycl
      901 ysfpskkska ryleehsaqq vdliwedalf mfeyfkpktl pefdsyktst vsadlanllk
      961 riativprte rpalsldkvs ayiegtstev pclpegadps ppvvnelyyl ladyhfknke
     1021 qskaikfymh dicicpnrfd swagmalara sriqdklnsn elksdgpiwk hatpvlncfr
     1081 raleidssnl slwieygtms yalhsfasrq lkqwrgelpp elvqqmegrr dsmletakhc
     1141 ftsaarcegd gdeeewlihy mlgkvaekqq qpptvyllhy rqaghylhee aarypkkihy
     1201 hnppelamea levyfrlhas ilkllgkpds gvgaevlvnf mkeaaegpfa rgeekntpka
     1261 sekekaclvd edshssagtl pgpgaslpss sgpgltsppy tatpidhdyv kckkphqqat
     1321 pdgtvpvlpt aspgrhinhg gvlgrlilsl rfdrsqdsta valsdssstq dffneptsll
     1381 egsrksytek rlpilssqag atgkdlqgat eergkneesl estegfraae qgvqkpaaet
     1441 pasacipgkp sastptlwdg kkrgdlpgep vafpqglpag aeeqrqflte qciasfrlcl
     1501 srfpqhyksl yrlaflytys kthrnlqwar dvllgssipw qqlqhmpaqg lfcernktnf
     1561 fngiwripvd eidrpgsfaw hmnrsivlll kvlaqlrdhs tllkvssmlq rtpdqgkkyl
     1621 rdadrqvlaq rafiltvkvl edtlselaeg serpgpkvcg lpgarmttdv shkaspedgq
     1681 eglpqpkkpp ladgsgpgpe pggkvgllnh rpvamdagds adqsgerkdk espragptep
     1741 mdtseatvch sdlertppll pgrpardrgp esrptelsle elsisarqqp tpltpaqpap
     1801 apapatttgt ragghpeepl srlsrkrkll edtesgktll ldayrvwqqg qkgvaydlgr
     1861 verimsetym likqhlpvkv deeaaleqav kfcqvhlgaa aqrqasgdtp ttpkhpkdsr
     1921 enffpvtvvp tapdpvpads vqrpsdahtk prpalaaatt iitcppsasa stldqskdpg
     1981 pprphrpeat psmaslgpeg eelarvaegt sfppqeprhs pqvkmaptss paephcwpae
     2041 aalgtgaept csqegklrpe prrdgeaqea asetqplssp ptaasskaps sgsaqppegh
     2101 pgkpepsrak srplpnmpkl vipsaatkfp peitvtpptp tllspkgsis eetkqklksa
     2161 ilsaqsaanv rkeslcqpal evletssqes slesetdedd dymdi
//
LOCUS       XP_054181491             566 aa            linear   PRI 20-MAR-2023
DEFINITION  ADP-ribosylation factor-binding protein GGA1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054181491
VERSION     XP_054181491.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325516.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..566
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..566
                     /product="ADP-ribosylation factor-binding protein GGA1
                     isoform X4"
                     /calculated_mol_wt=62006
     CDS             1..566
                     /gene="GGA1"
                     /coded_by="XM_054325516.1:387..2087"
                     /db_xref="GeneID:26088"
                     /db_xref="HGNC:HGNC:17842"
                     /db_xref="MIM:606004"
ORIGIN      
        1 mkscgkrfhd evgkfrflne likvvspkyl gsrtsekvkn kilellyswt vglpeevkia
       61 eayqmlkkqg ivksdpklpd dttfplpppr pknvifedee kskmlarllk sshpedlraa
      121 nklikemvqe dqkrmekisk rvnaieevnn nvklltemvm shsqggaaag ssedlmkely
      181 qrcermrptl frlasdtedn dealaeilqa ndnltqvinl ykqlvrgeev ngdatagsip
      241 gstsalldls gldlppagtt ypamptrpge qaspeqpsas vsllddelms lglsdptpps
      301 gpsldgtgwn sfqssdatep papalaqaps mksrppaqts lpassglddl dllgktllqq
      361 slppesqqvr wekqqptprl tlrdlqnkss scsspsssat sllhtvspep prppqqpvpt
      421 elslasitvp lesikpsnil pvtvydqhgf rilfhfardp lpgrsdvlvv vvsmlstapq
      481 pirnivfqsa vpkvmkvklq ppsgtelpaf npivhpsait qvlllanpqk ekvrlryklt
      541 ftmgdqtyne mgdvdqfppp etwgsl
//
LOCUS       XP_054202132             338 aa            linear   PRI 20-MAR-2023
DEFINITION  probable G-protein coupled receptor 160 isoform X1 [Homo sapiens].
ACCESSION   XP_054202132
VERSION     XP_054202132.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346157.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..338
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..338
                     /product="probable G-protein coupled receptor 160 isoform
                     X1"
                     /calculated_mol_wt=39656
     CDS             1..338
                     /gene="GPR160"
                     /gene_synonym="GPCR1; GPCR150"
                     /coded_by="XM_054346157.1:837..1853"
                     /db_xref="GeneID:26996"
                     /db_xref="HGNC:HGNC:23693"
ORIGIN      
        1 mtalssencs fqyqlrqtnq pldvnyllfl iilgkillni ltlgmrrknt cqnfmeyfci
       61 slafvdllll vnisiilyfr dfvllsirft kyhiclftqi isftygflhy pvfltacidy
      121 clnfskttkl sfkcqklfyf ftviliwisv layvlgdpai yqslkaqnay srhcpfyvsi
      181 qsywlsffmv milfvafitc weevttlvqa iritsymnet ilyfpfsshs sytvrskkif
      241 lsklivcfls twlpfvllqv iivllkvqip ayiemnipwl yfvnsfliat vywfnchkln
      301 lkdiglpldp fvnwkccfip ltipnleqie kpisimic
//
LOCUS       XP_054209018             680 aa            linear   PRI 20-MAR-2023
DEFINITION  succinate dehydrogenase [ubiquinone] flavoprotein subunit,
            mitochondrial isoform X1 [Homo sapiens].
ACCESSION   XP_054209018
VERSION     XP_054209018.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353043.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..680
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..680
                     /product="succinate dehydrogenase [ubiquinone]
                     flavoprotein subunit, mitochondrial isoform X1"
                     /calculated_mol_wt=74342
     CDS             1..680
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; SDH1;
                     SDH2; SDHF"
                     /coded_by="XM_054353043.1:37..2079"
                     /db_xref="GeneID:6389"
                     /db_xref="HGNC:HGNC:10680"
                     /db_xref="MIM:600857"
ORIGIN      
        1 msgvrglsrl lsarrlalak awptvlqtgt rgfhftvdgn krasakvsds isaqypvvdh
       61 efdavvvgag gaglraafgl seagfntacv tklfptrsht vaaqgginaa lgnmeednwr
      121 whfydtvkgs dwlgdqdaih ymteqapaav velenygmpf srtedgkiyq rafggqslkf
      181 gkggqahrcc cvadrtghsl lhtlygrslr ydtsyfveyf aldllmenge crgvialcie
      241 dgsihrirak ntvvatggyg rtyfsctsah tstgdgtami traglpcqdl efvqfhptgi
      301 ygagcliteg crgeggilin sqgerfmery apvakdlasr dvvsrsmtle iregrgcgpe
      361 kdhvylqlhh lppeqlatrl pgisetamif agvdvtkepi pvlptvhynm ggiptnykgq
      421 vlrhvngqdq ivpglyacge aacasvhgan rlganslldl vvfgracals ieescrpgdk
      481 vppikpnage esvmnldklr fadgsirtse lrlsmqksmq nhaavfrvgs vlqegcgkis
      541 klygdlkhlk tfdrgmvwnt dlvetlelqn lmlcalqtiy gaearkesrg aharedykvr
      601 ideydyskpi qgqqkkpfee hwrkhtlsyv dvgtgkctar eqhithrkql cscdgglstr
      661 kertigarss lnkseshyav
//
LOCUS       XP_054212226             483 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 22 member 1 isoform X4 [Homo sapiens].
ACCESSION   XP_054212226
VERSION     XP_054212226.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356251.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..483
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..483
                     /product="solute carrier family 22 member 1 isoform X4"
                     /calculated_mol_wt=53464
     CDS             1..483
                     /gene="SLC22A1"
                     /gene_synonym="HOCT1; OCT1; oct1_cds"
                     /coded_by="XM_054356251.1:122..1573"
                     /db_xref="GeneID:6580"
                     /db_xref="HGNC:HGNC:10963"
                     /db_xref="MIM:602607"
ORIGIN      
        1 mptvddileq vgesgwfqkq aflilcllsa afapicvgiv flgftpdhhc qspgvaelsq
       61 rcgwspaeel nytvpglgpa geaflgqcrr yevdwnqsal scvdplasla tnrshlplgp
      121 cqdgwvydtp gssivtefnl vcadswkldl fqsclnagff fgslgvgyfa drfgrklcll
      181 gtvlvnavsg vlmafspnym smllfrllqg lvskgnwmag ytlitefvgs gsrrtvaimy
      241 qmaftvglva ltglayalph wrwlqlavsl ptflfllyyw cvpesprwll sqkrnteaik
      301 imdhiaqkng klppadlkml sleedvtekl spsfadlfrt prlrkrtfil mylwftdsvl
      361 yqglilhmga tsgnlyldfl ysalveipga fialitidrv griypmavsn llagaaclvm
      421 ifispdlhwl niiimcvgrm gitiaiqmic lvnaelyptf vrkakpkent iylkvqtsep
      481 sgt
//
LOCUS       XP_054183875             838 aa            linear   PRI 20-MAR-2023
DEFINITION  putative bifunctional UDP-N-acetylglucosamine transferase and
            deubiquitinase ALG13 isoform X19 [Homo sapiens].
ACCESSION   XP_054183875
VERSION     XP_054183875.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327900.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..838
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..838
                     /product="putative bifunctional UDP-N-acetylglucosamine
                     transferase and deubiquitinase ALG13 isoform X19"
                     /calculated_mol_wt=92643
     CDS             1..838
                     /gene="ALG13"
                     /gene_synonym="CDG1S; CXorf45; DEE36; EIEE36; GLT28D1;
                     MDS031; TDRD13; YGL047W"
                     /coded_by="XM_054327900.1:17..2533"
                     /db_xref="GeneID:79868"
                     /db_xref="HGNC:HGNC:30881"
                     /db_xref="MIM:300776"
ORIGIN      
        1 mlprlecggy sqillcysss ghydsvyskq fqssaavcqa vlyeilykdv fvvdeeelkt
       61 aiklfrsgsk knrnnavtgs edahtdykss nqnrmeewga cynaenipeg ynkgteetks
      121 penpskmpfp ykvlkaldpe iyrnvefdvw ldsrkelqks dymeyagrqy ylgdkcqvcl
      181 esegryynah iqevgnenns vtvfieelae khvvplanlk pvtqvmsvpa wnampsrkgr
      241 gyqkmpggyv peivisemdi kqqkkmfkki rgkevymtma ygkgdpllpp rlqhsmhygh
      301 dppmhysqta gnvmsnehfh pqhpsprqgr gygmprnssr finrhnmpgp kvdfypgpgk
      361 rccqsydnfs yrsrsfrrsh rqmscvnkes qygftpgngq mprgleetit fyeveegdet
      421 ayptlpnhgg pstmvpatsg ycvgrrghss gkqtlnleeg ngqsengryh eeylyraepd
      481 yetsgvystt astanlglwl ylntdfgivh vkwgspfhsk slqdrkscsm spqdtvtsyn
      541 ypqkmmgnia avaascannv papvlsngaa anqaisttsv ssqnaiqplf vsppthgrpv
      601 iaspsypchs aiphagaslp pppppppppp pppppppppp ppppppaldv getsnlqppp
      661 plppppyscd psgsdlpqdt kvlqyyfnlg lqcyyhsywh smvyvpqmqq qlhvenypvy
      721 tepplvdqtv pqcysevrre dgiqaeasan dtfpnadsss vphgavyypv msdpygqppl
      781 pgfdsclpvv pdyscvppwh pvgtayggss qihgainpgp igciapsppa shyvpqgm
//
LOCUS       XP_054184302             294 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-specific Y-encoded protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054184302
VERSION     XP_054184302.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328327.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060948) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..294
                     /organism="Homo sapiens"
                     /isolate="NA24385"
                     /bio_material="CORIELL:NA24385"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /sex="male"
                     /tissue_type="B-Lymphocyte"
     Protein         1..294
                     /product="testis-specific Y-encoded protein 3 isoform X1"
                     /calculated_mol_wt=33126
     CDS             1..294
                     /gene="TSPY3"
                     /gene_synonym="CT78; TSPY; TSPY1; TSPY10"
                     /coded_by="XM_054328327.1:15..899"
                     /db_xref="GeneID:728137"
                     /db_xref="HGNC:HGNC:33876"
ORIGIN      
        1 mrpegsltyr vperlrqgfc gvgraaqalv casakegtaf rmeavqegaa gveseqaalg
       61 eeavlllddi maevevvaee eglverreea qraqqavpgp gpmtpesale ellavqvele
      121 pvnaqarkaf srqrekmerr rkphldrrga viqsvpgfwa nvianhpqms alitdededm
      181 lsymvsleve eekhpvhlck imlffrsnpy fqnkvitkey lvniteyras hstpiewypd
      241 yeveayrrrh hnsslnffnw fsdhnfagsn kiaespdrsy vrtcgaipcn ttrg
//
LOCUS       NP_001373540             455 aa            linear   PRI 23-MAR-2023
DEFINITION  4-aminobutyrate aminotransferase, mitochondrial isoform 7 [Homo
            sapiens].
ACCESSION   NP_001373540
VERSION     NP_001373540.1
DBSOURCE    REFSEQ: accession NM_001386611.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 455)
  AUTHORS   Zheng XX, You YX, Zhao LL, Du Y, Xu SQ and Tang DQ.
  TITLE     Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma
            concentration of valproic acid in Chinese epilepsy patients
  JOURNAL   Pharmacogenomics 24 (3), 153-162 (2023)
   PUBMED   36718958
  REMARK    GeneRIF: Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on
            plasma concentration of valproic acid in Chinese epilepsy patients.
REFERENCE   2  (residues 1 to 455)
  AUTHORS   Zheng Q, Bi R, Xu M, Zhang DF, Tan LW, Lu YP and Yao YG.
  TITLE     Exploring the Genetic Association of the ABAT Gene with Alzheimer's
            Disease
  JOURNAL   Mol Neurobiol 58 (5), 1894-1903 (2021)
   PUBMED   33404980
  REMARK    GeneRIF: Exploring the Genetic Association of the ABAT Gene with
            Alzheimer's Disease.
            Erratum:[Mol Neurobiol. 2021 Jan 22;:. PMID: 33483904]
REFERENCE   3  (residues 1 to 455)
  AUTHORS   Yokoshima Y, Sumitani M, Nishizawa D, Nagashima M, Ikeda K, Kato R,
            Hozumi J, Abe H, Azuma K, Tsuchida R and Yamada Y.
  CONSRTM   Japanese TR-Cancer Pain Research Group
  TITLE     Gamma-aminobutyric acid transaminase genetic polymorphism is a
            candidate locus for responsiveness to opioid analgesics in patients
            with cancer pain: An exploratory study
  JOURNAL   Neuropsychopharmacol Rep 38 (4), 175-181 (2018)
   PUBMED   30277654
  REMARK    GeneRIF: ABAT SNP rs1641025 is a potential candidate locus for
            responsiveness to opioid analgesics in patients with cancer pain.
REFERENCE   4  (residues 1 to 455)
  AUTHORS   Jansen MP, Sas L, Sieuwerts AM, Van Cauwenberghe C, Ramirez-Ardila
            D, Look M, Ruigrok-Ritstier K, Finetti P, Bertucci F, Timmermans
            MM, van Deurzen CH, Martens JW, Simon I, Roepman P, Linn SC, van
            Dam P, Kok M, Lardon F, Vermeulen PB, Foekens JA, Dirix L, Berns EM
            and Van Laere S.
  TITLE     Decreased expression of ABAT and STC2 hallmarks ER-positive
            inflammatory breast cancer and endocrine therapy resistance in
            advanced disease
  JOURNAL   Mol Oncol 9 (6), 1218-1233 (2015)
   PUBMED   25771305
  REMARK    GeneRIF: This study utilized ER+ IBC to identify a metagene
            including ABAT and STC2 as predictive biomarkers for endocrine
            therapy resistance.
REFERENCE   5  (residues 1 to 455)
  AUTHORS   Parviz M, Vogel K, Gibson KM and Pearl PL.
  TITLE     Disorders of GABA metabolism: SSADH and GABA-transaminase
            deficiencies
  JOURNAL   J Pediatr Epilepsy 3 (4), 217-227 (2014)
   PUBMED   25485164
  REMARK    GeneRIF: A-to-G transition at nucleotide 754 of the human ABAT gene
            identified in lymphoblast cDNA (c.754A>G) results in substitution
            of an invariant arginine at amino acid 220 by lysine (p.Arg220Lys).
            This point mutation results in destabilization of the binding of
            pyridoxal-5'-phosphate to GABA-transaminase (required for
            transamination of GABA to succinic semialdehyde) and thus results
            in GABA-transaminase deficiency.
REFERENCE   6  (residues 1 to 455)
  AUTHORS   Osei YD and Churchich JE.
  TITLE     Screening and sequence determination of a cDNA encoding the human
            brain 4-aminobutyrate aminotransferase
  JOURNAL   Gene 155 (2), 185-187 (1995)
   PUBMED   7721088
REFERENCE   7  (residues 1 to 455)
  AUTHORS   De Biase D, Barra D, Simmaco M, John RA and Bossa F.
  TITLE     Primary structure and tissue distribution of human 4-aminobutyrate
            aminotransferase
  JOURNAL   Eur J Biochem 227 (1-2), 476-480 (1995)
   PUBMED   7851425
REFERENCE   8  (residues 1 to 455)
  AUTHORS   Hearl,W.G. and Churchich,J.E.
  TITLE     Interactions between 4-aminobutyrate aminotransferase and succinic
            semialdehyde dehydrogenase, two mitochondrial enzymes
  JOURNAL   J Biol Chem 259 (18), 11459-11463 (1984)
   PUBMED   6470007
REFERENCE   9  (residues 1 to 455)
  AUTHORS   Jaeken,J., Casaer,P., de Cock,P., Corbeel,L., Eeckels,R.,
            Eggermont,E., Schechter,P.J. and Brucher,J.M.
  TITLE     Gamma-aminobutyric acid-transaminase deficiency: a newly recognized
            inborn error of neurotransmitter metabolism
  JOURNAL   Neuropediatrics 15 (3), 165-169 (1984)
   PUBMED   6148708
REFERENCE   10 (residues 1 to 455)
  AUTHORS   Jeremiah,S. and Povey,S.
  TITLE     The biochemical genetics of human gamma-aminobutyric acid
            transaminase
  JOURNAL   Ann Hum Genet 45 (3), 231-236 (1981)
   PUBMED   7305280
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007224.5 and AC012173.9.
            
            Summary: 4-aminobutyrate aminotransferase (ABAT) is responsible for
            catabolism of gamma-aminobutyric acid (GABA), an important, mostly
            inhibitory neurotransmitter in the central nervous system, into
            succinic semialdehyde. The active enzyme is a homodimer of 50-kD
            subunits complexed to pyridoxal-5-phosphate. The protein sequence
            is over 95% similar to the pig protein. GABA is estimated to be
            present in nearly one-third of human synapses. ABAT in liver and
            brain is controlled by 2 codominant alleles with a frequency in a
            Caucasian population of 0.56 and 0.44. The ABAT deficiency
            phenotype includes psychomotor retardation, hypotonia,
            hyperreflexia, lethargy, refractory seizures, and EEG
            abnormalities. Multiple alternatively spliced transcript variants
            encoding the same protein isoform have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.404301.1,
                                           SRR18074967.1987895.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..455
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.2"
     Protein         1..455
                     /product="4-aminobutyrate aminotransferase, mitochondrial
                     isoform 7"
                     /EC_number="2.6.1.19"
                     /EC_number="2.6.1.22"
                     /note="GABA transferase; 4-aminobutyrate transaminase;
                     GABA aminotransferase; gamma-amino-N-butyrate
                     transaminase; 4-aminobutyrate aminotransferase,
                     mitochondrial; GABA transaminase;
                     (S)-3-amino-2-methylpropionate transaminase;
                     gamma-aminobutyrate aminotransferase"
                     /calculated_mol_wt=51332
     Region          1..451
                     /region_name="GABAtrns_euk"
                     /note="4-aminobutyrate aminotransferase, eukaryotic type;
                     TIGR00699"
                     /db_xref="CDD:129782"
     Site            order(118..120,172..173,175,248,281,283..284,312)
                     /site_type="active"
                     /note="inhibitor-cofactor binding pocket [active]"
                     /db_xref="CDD:99735"
     Site            order(119..120,172..173,248,281,284,312)
                     /site_type="other"
                     /note="pyridoxal 5'-phosphate binding site [chemical
                     binding]"
                     /db_xref="CDD:99735"
     Site            312
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:99735"
     CDS             1..455
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /coded_by="NM_001386611.1:161..1528"
                     /note="isoform 7 is encoded by transcript variant 15"
                     /db_xref="GeneID:18"
                     /db_xref="HGNC:HGNC:23"
                     /db_xref="MIM:137150"
ORIGIN      
        1 mktevpgprs qelmkqlnii qnaeavhffc nyeesrgnyl vdvdgnrmld lysqissvpi
       61 gyshpallkl iqqpqnasmf vnrpalgilp penfveklrq sllsvapkgm sqlitmacgs
      121 csnenalkti fmwyrskerg qrgfsqeele tcminqapgc pdysilsfmg afhgrtmgcl
      181 atthskaihk idipsfdwpi apfprlkypl eefvkenqqe earcleeved livkyrkkkk
      241 tvagiivepi qseggdnhas ddffrklrdi arkhgcaflv devqtgggct gkfwahehwg
      301 lddpadvmtf skkmmtggff hkeefrpnap yrifntwlgd psknlllaev iniikredll
      361 nnaahagkal ltglldlqar ypqfisrvrg rgtfcsfdtp ddsirnklil iarnkgvvlg
      421 gcgdksirfr ptlvfrdhha hlflnifsdi ladfk
//
LOCUS       NP_002405                185 aa            linear   PRI 24-MAR-2023
DEFINITION  CD99 antigen isoform a precursor [Homo sapiens].
ACCESSION   NP_002405
VERSION     NP_002405.1
DBSOURCE    REFSEQ: accession NM_002414.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 185)
  AUTHORS   Wong YL, Okubo T, Uno E, Suda K and Ishii T.
  TITLE     Role of CD99 in regulating homeostasis and differentiation in
            normal human epidermal keratinocytes
  JOURNAL   Biochem Biophys Res Commun 606, 108-113 (2022)
   PUBMED   35339749
  REMARK    GeneRIF: Role of CD99 in regulating homeostasis and differentiation
            in normal human epidermal keratinocytes.
REFERENCE   2  (residues 1 to 185)
  AUTHORS   Ali A, Vaikari VP and Alachkar H.
  TITLE     CD99 in malignant hematopoiesis
  JOURNAL   Exp Hematol 106, 40-46 (2022)
   PUBMED   34920053
  REMARK    GeneRIF: CD99 in malignant hematopoiesis.
            Review article
REFERENCE   3  (residues 1 to 185)
  AUTHORS   Siwy J, Wendt R, Albalat A, He T, Mischak H, Mullen W, Latosinska
            A, Lubbert C, Kalbitz S, Mebazaa A, Peters B, Stegmayr B, Spasovski
            G, Wiech T, Staessen JA, Wolf J and Beige J.
  TITLE     CD99 and polymeric immunoglobulin receptor peptides deregulation in
            critical COVID-19: A potential link to molecular pathophysiology?
  JOURNAL   Proteomics 21 (20), e2100133 (2021)
   PUBMED   34383378
  REMARK    GeneRIF: CD99 and polymeric immunoglobulin receptor peptides
            deregulation in critical COVID-19: A potential link to molecular
            pathophysiology?
REFERENCE   4  (residues 1 to 185)
  AUTHORS   Mannion AJ, Odell AF, Taylor A, Jones PF and Cook GP.
  TITLE     Tumour cell CD99 regulates transendothelial migration via CDC42 and
            actin remodelling
  JOURNAL   J Cell Sci 134 (15) (2021)
   PUBMED   34374417
  REMARK    GeneRIF: Tumour cell CD99 regulates transendothelial migration via
            CDC42 and actin remodelling.
REFERENCE   5  (residues 1 to 185)
  AUTHORS   Hahn JH, Kim MK, Choi EY, Kim SH, Sohn HW, Ham DI, Chung DH, Kim
            TJ, Lee WJ, Park CK, Ree HJ and Park SH.
  TITLE     CD99 (MIC2) regulates the LFA-1/ICAM-1-mediated adhesion of
            lymphocytes, and its gene encodes both positive and negative
            regulators of cellular adhesion
  JOURNAL   J Immunol 159 (5), 2250-2258 (1997)
   PUBMED   9278313
REFERENCE   6  (residues 1 to 185)
  AUTHORS   Kovar H, Dworzak M, Strehl S, Schnell E, Ambros IM, Ambros PF and
            Gadner H.
  TITLE     Overexpression of the pseudoautosomal gene MIC2 in Ewing's sarcoma
            and peripheral primitive neuroectodermal tumor
  JOURNAL   Oncogene 5 (7), 1067-1070 (1990)
   PUBMED   1695726
REFERENCE   7  (residues 1 to 185)
  AUTHORS   Gelin C, Aubrit F, Phalipon A, Raynal B, Cole S, Kaczorek M and
            Bernard A.
  TITLE     The E2 antigen, a 32 kd glycoprotein involved in T-cell adhesion
            processes, is the MIC2 gene product
  JOURNAL   EMBO J 8 (11), 3253-3259 (1989)
   PUBMED   2479542
REFERENCE   8  (residues 1 to 185)
  AUTHORS   Banting GS, Pym B, Darling SM and Goodfellow PN.
  TITLE     The MIC2 gene product: epitope mapping and structural prediction
            analysis define an integral membrane protein
  JOURNAL   Mol Immunol 26 (2), 181-188 (1989)
   PUBMED   2465491
REFERENCE   9  (residues 1 to 185)
  AUTHORS   Goodfellow PJ, Mondello C, Darling SM, Pym B, Little P and
            Goodfellow PN.
  TITLE     Absence of methylation of a CpG-rich region at the 5' end of the
            MIC2 gene on the active X, the inactive X, and the Y chromosome
  JOURNAL   Proc Natl Acad Sci U S A 85 (15), 5605-5609 (1988)
   PUBMED   2456574
REFERENCE   10 (residues 1 to 185)
  AUTHORS   Goodfellow,P.J., Darling,S.M., Thomas,N.S. and Goodfellow,P.N.
  TITLE     A pseudoautosomal gene in man
  JOURNAL   Science 234 (4777), 740-743 (1986)
   PUBMED   2877492
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC010109.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a cell surface
            glycoprotein involved in leukocyte migration, T-cell adhesion,
            ganglioside GM1 and transmembrane protein transport, and T-cell
            death by a caspase-independent pathway. In addition, the encoded
            protein may have the ability to rearrange the actin cytoskeleton
            and may also act as an oncosuppressor in osteosarcoma. This gene is
            found in the pseudoautosomal region of chromosomes X and Y and
            escapes X-chromosome inactivation. There is a related pseudogene
            located immediately adjacent to this locus. [provided by RefSeq,
            Mar 2016].
            
            Transcript Variant: This variant (1, also known as type I) encodes
            the longest isoform (a, also known as CD99wt).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC002584.2, M16279.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381192.10/ ENSP00000370588.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..185
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /chromosome="Y"
                     /map="X"
                     /map="Y"
     Protein         1..185
                     /product="CD99 antigen isoform a precursor"
                     /note="MIC2 (monoclonal antibody 12E7); antigen identified
                     by monoclonal antibodies 12E7, F21 and O13; CD99 antigen;
                     surface antigen MIC2; E2 antigen; T-cell surface
                     glycoprotein E2; antigen identified by monoclonal 12E7, Y
                     homolog; cell surface antigen 12E7; cell surface antigen
                     HBA-71; cell surface antigen O13"
                     /calculated_mol_wt=16896
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1970
     Region          26..179
                     /region_name="CD99L2"
                     /note="CD99 antigen like protein 2; pfam12301"
                     /db_xref="CDD:432463"
     CDS             1..185
                     /gene="CD99"
                     /gene_synonym="HBA71; MIC2; MIC2X; MIC2Y; MSK5X"
                     /coded_by="NM_002414.5:67..624"
                     /note="isoform a precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS14119.1"
                     /db_xref="GeneID:4267"
                     /db_xref="HGNC:HGNC:7082"
                     /db_xref="MIM:313470"
                     /db_xref="MIM:450000"
ORIGIN      
        1 margaalall lfgllgvlva apdggfdlsd alpdnenkkp taipkkpsag ddfdlgdavv
       61 dgenddprpp nppkpmpnpn pnhpsssgsf sdadladgvs ggegkggsdg ggshrkegee
      121 adapgvipgi vgavvvavag aissfiayqk kklcfkenae qgevdmeshr nanaepavqr
      181 tllek
//
LOCUS       NP_005180                532 aa            linear   PRI 26-MAR-2023
DEFINITION  chromobox protein homolog 2 isoform 1 [Homo sapiens].
ACCESSION   NP_005180
VERSION     NP_005180.1
DBSOURCE    REFSEQ: accession NM_005189.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 532)
  AUTHORS   Ma Y, Liu L, Wei Z, Zhu M, Huang L, Wang S, Yi X, Ying F, Zhao S,
            Cai J, Wang Z and Sun S.
  TITLE     Loss of CBX2 causes genomic instability and Wnt activation in high
            grade serous ovarian carcinoma cells
  JOURNAL   Mol Carcinog 62 (4), 479-492 (2023)
   PUBMED   36621979
  REMARK    GeneRIF: Loss of CBX2 causes genomic instability and Wnt activation
            in high grade serous ovarian carcinoma cells.
REFERENCE   2  (residues 1 to 532)
  AUTHORS   Del Gaudio N, Di Costanzo A, Liu NQ, Conte L, Dell'Aversana C, Bove
            G, Benedetti R, Montella L, Ciardiello F, Carafa V, Ambrosino C,
            Tucci V, Conte M, Martens JHA, Stunnenberg HG, Nebbioso A and
            Altucci L.
  TITLE     CBX2 shapes chromatin accessibility promoting AML via p38 MAPK
            signaling pathway
  JOURNAL   Mol Cancer 21 (1), 125 (2022)
   PUBMED   35681235
  REMARK    GeneRIF: CBX2 shapes chromatin accessibility promoting AML via p38
            MAPK signaling pathway.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 532)
  AUTHORS   Wang D, Tanaka-Yano M, Meader E, Kinney MA, Morris V, Lummertz da
            Rocha E, Liu N, Liu T, Zhu Q, Orkin SH, North TE, Daley GQ and Rowe
            RG.
  TITLE     Developmental maturation of the hematopoietic system controlled by
            a Lin28b-let-7-Cbx2 axis
  JOURNAL   Cell Rep 39 (1), 110587 (2022)
   PUBMED   35385744
  REMARK    GeneRIF: Developmental maturation of the hematopoietic system
            controlled by a Lin28b-let-7-Cbx2 axis.
REFERENCE   4  (residues 1 to 532)
  AUTHORS   Hart D, Rodriguez Gutierrez D and Biason-Lauber A.
  TITLE     CBX2 in DSD: The Quirky Kid on the Block
  JOURNAL   Sex Dev 16 (2-3), 162-170 (2022)
   PUBMED   35263754
  REMARK    GeneRIF: CBX2 in DSD: The Quirky Kid on the Block.
            Review article
REFERENCE   5  (residues 1 to 532)
  AUTHORS   Wang L, Ren B, Zhuang H, Zhong Y and Nan Y.
  TITLE     CBX2 Induces Glioma Cell Proliferation and Invasion Through the
            Akt/PI3K Pathway
  JOURNAL   Technol Cancer Res Treat 20, 15330338211045831 (2021)
   PUBMED   34709960
  REMARK    GeneRIF: CBX2 Induces Glioma Cell Proliferation and Invasion
            Through the Akt/PI3K Pathway.
REFERENCE   6  (residues 1 to 532)
  AUTHORS   Pearce JJ, Singh PB and Gaunt SJ.
  TITLE     The mouse has a Polycomb-like chromobox gene
  JOURNAL   Development 114 (4), 921-929 (1992)
   PUBMED   1352241
REFERENCE   7  (residues 1 to 532)
  AUTHORS   Paro R and Hogness DS.
  TITLE     The Polycomb protein shares a homologous domain with a
            heterochromatin-associated protein of Drosophila
  JOURNAL   Proc Natl Acad Sci U S A 88 (1), 263-267 (1991)
   PUBMED   1898775
REFERENCE   8  (residues 1 to 532)
  AUTHORS   Chodak GW.
  TITLE     Early detection and screening for prostatic cancer
  JOURNAL   Urology 34 (4 Suppl), 10-56 (1989)
   PUBMED   2477932
  REMARK    Review article
REFERENCE   9  (residues 1 to 532)
  AUTHORS   Kuziora MA and McGinnis W.
  TITLE     Different transcripts of the Drosophila Abd-B gene correlate with
            distinct genetic sub-functions
  JOURNAL   EMBO J 7 (10), 3233-3244 (1988)
   PUBMED   2903050
REFERENCE   10 (residues 1 to 532)
  AUTHORS   Wedeen,C., Harding,K. and Levine,M.
  TITLE     Spatial regulation of Antennapedia and bithorax gene expression by
            the Polycomb locus in Drosophila
  JOURNAL   Cell 44 (5), 739-748 (1986)
   PUBMED   3081265
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC105337.7, DB452048.1,
            CV815254.1, CN367098.1 and AL157459.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a component of the polycomb multiprotein
            complex, which is required to maintain the transcriptionally
            repressive state of many genes throughout development via chromatin
            remodeling and modification of histones. Disruption of this gene in
            mice results in male-to-female gonadal sex reversal. Mutations in
            this gene are also associated with gonadal dysgenesis in humans.
            Alternatively spliced transcript variants encoding different
            isoforms have been noted for this gene.[provided by RefSeq, Mar
            2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CN367087.1, CN367085.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310942.9/ ENSP00000308750.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..532
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..532
                     /product="chromobox protein homolog 2 isoform 1"
                     /note="Pc class homolog; modifier 3; cell division cycle
                     associated 6; chromobox homolog 2 (Pc class homolog,
                     Drosophila); chromobox protein homolog 2"
                     /calculated_mol_wt=55950
     Region          1..66
                     /region_name="Involved in the interaction with H3C15 and
                     H3C1. /evidence=ECO:0000269|PubMed:18927235"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14781.2)"
     Region          9..61
                     /region_name="CD_Cbx2"
                     /note="chromodomain of chromobox homolog 2; cd18647"
                     /db_xref="CDD:349294"
     Site            order(11..15,33..34,36,40,43..44,47..48,50..51,53..54)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:349294"
     Region          60..204
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14781.2)"
     Region          163..168
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14781.2)"
     Site            247
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q14781.2)"
     Region          296..348
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14781.2)"
     Site            302
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14781.2)"
     Region          379..493
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14781.2)"
     Region          491..523
                     /region_name="CBX7_C"
                     /note="CBX family C-terminal motif; pfam17218"
                     /db_xref="CDD:435794"
     CDS             1..532
                     /gene="CBX2"
                     /gene_synonym="CDCA6; M33; SRXY5"
                     /coded_by="NM_005189.3:89..1687"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS32757.1"
                     /db_xref="GeneID:84733"
                     /db_xref="HGNC:HGNC:1552"
                     /db_xref="MIM:602770"
ORIGIN      
        1 meelssvgeq vfaaecilsk rlrkgkleyl vkwrgwsskh nswepeenil dprlllafqk
       61 kehekevqnr krgkrprgrp rkltamsscs rrsklkepda psksksssss ssstssssss
      121 deeddsdlda krgprgreth pvpqkkaqil vakpelkdpi rkkrgrkplp peqkatrrpv
      181 slakvlktar kdlgapaskl ppplsapvag laalkahake acggpsamat penlaslmkg
      241 masspgrggi swqssivhym nrmtqsqaqa asrlalkaqa tnkcglgldl kvrtqkgelg
      301 msppgskipk apsggaveqk vgntggppht hgasrvpagc pgpqpaptqe lslqvldlqs
      361 vkngmpgvgl larhatatkg vpatnpapgk gtgsgligas gatmptdtsk seklasrava
      421 pptpaskrdc vkgsatpsgq esrtapgear kaatlpemsa geessssdsd pdsasppstg
      481 qnpsvsvqts qdwkptrsli ehvfvtdvta nlitvtvkes ptsvgffnlr hy
//
LOCUS       NP_056154               1102 aa            linear   PRI 03-APR-2023
DEFINITION  activity-dependent neuroprotector homeobox protein [Homo sapiens].
ACCESSION   NP_056154
VERSION     NP_056154.1
DBSOURCE    REFSEQ: accession NM_015339.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1102)
  AUTHORS   D'Incal CP, Van Rossem KE, De Man K, Konings A, Van Dijck A,
            Rizzuti L, Vitriolo A, Testa G, Gozes I, Vanden Berghe W and Kooy
            RF.
  TITLE     Chromatin remodeler Activity-Dependent Neuroprotective Protein
            (ADNP) contributes to syndromic autism
  JOURNAL   Clin Epigenetics 15 (1), 45 (2023)
   PUBMED   36945042
  REMARK    GeneRIF: Chromatin remodeler Activity-Dependent Neuroprotective
            Protein (ADNP) contributes to syndromic autism.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1102)
  AUTHORS   D'Amico AG, Maugeri G, Magri B, Giunta S, Saccone S, Federico C,
            Pricoco E, Broggi G, Caltabiano R, Musumeci G, Reglodi D and
            D'Agata V.
  TITLE     Modulatory activity of ADNP on the hypoxia-induced angiogenic
            process in glioblastoma
  JOURNAL   Int J Oncol 62 (1) (2023)
   PUBMED   36484392
  REMARK    GeneRIF: Modulatory activity of ADNP on the hypoxiainduced
            angiogenic process in glioblastoma.
REFERENCE   3  (residues 1 to 1102)
  AUTHORS   Maugeri G, D'Amico AG, Magri B, Musumeci G and D'Agata V.
  TITLE     Activity-Dependent Neuroprotective Protein (ADNP): An Overview of
            Its Role in the Eye
  JOURNAL   Int J Mol Sci 23 (21), 13654 (2022)
   PUBMED   36362439
  REMARK    GeneRIF: Activity-Dependent Neuroprotective Protein (ADNP): An
            Overview of Its Role in the Eye.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1102)
  AUTHORS   Ganaiem M, Karmon G, Ivashko-Pachima Y and Gozes I.
  TITLE     Distinct Impairments Characterizing Different ADNP Mutants Reveal
            Aberrant Cytoplasmic-Nuclear Crosstalk
  JOURNAL   Cells 11 (19), 2994 (2022)
   PUBMED   36230962
  REMARK    GeneRIF: Distinct Impairments Characterizing Different ADNP Mutants
            Reveal Aberrant Cytoplasmic-Nuclear Crosstalk.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1102)
  AUTHORS   Braitch M, Kawabe K, Nyirenda M, Gilles LJ, Robins RA, Gran B,
            Murphy S, Showe L and Constantinescu CS.
  TITLE     Expression of activity-dependent neuroprotective protein in the
            immune system: possible functions and relevance to multiple
            sclerosis
  JOURNAL   Neuroimmunomodulation 17 (2), 120-125 (2010)
   PUBMED   19923857
  REMARK    GeneRIF: ADNP is expressed in many immune system cells. ADNP mRNA
            is reduced in PBMCs in MS. The peptide NAP, which plays an
            important role in neuroprotection, has potential immunomodulatory
            properties.
REFERENCE   6  (residues 1 to 1102)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (residues 1 to 1102)
  AUTHORS   Mandel S and Gozes I.
  TITLE     Activity-dependent neuroprotective protein constitutes a novel
            element in the SWI/SNF chromatin remodeling complex
  JOURNAL   J Biol Chem 282 (47), 34448-34456 (2007)
   PUBMED   17878164
  REMARK    GeneRIF: Activity-dependent neuroprotective protein constitutes a
            novel element in the SWI/SNF chromatin remodeling complex.
REFERENCE   8  (residues 1 to 1102)
  AUTHORS   Kankova K, Stejskalova A, Pacal L, Tschoplova S, Hertlova M,
            Krusova D, Izakovicova-Holla L, Beranek M, Vasku A, Barral S and
            Ott J.
  TITLE     Genetic risk factors for diabetic nephropathy on chromosomes 6p and
            7q identified by the set-association approach
  JOURNAL   Diabetologia 50 (5), 990-999 (2007)
   PUBMED   17345061
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   9  (residues 1 to 1102)
  AUTHORS   Zamostiano R, Pinhasov A, Gelber E, Steingart RA, Seroussi E,
            Giladi E, Bassan M, Wollman Y, Eyre HJ, Mulley JC, Brenneman DE and
            Gozes I.
  TITLE     Cloning and characterization of the human activity-dependent
            neuroprotective protein
  JOURNAL   J Biol Chem 276 (1), 708-714 (2001)
   PUBMED   11013255
REFERENCE   10 (residues 1 to 1102)
  AUTHORS   Van Dijck,A., Vandeweyer,G. and Kooy,F.
  TITLE     ADNP-Related Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27054228
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL034553.12.
            
            Summary: Vasoactive intestinal peptide is a neuroprotective factor
            that has a stimulatory effect on the growth of some tumor cells and
            an inhibitory effect on others. This gene encodes a protein that is
            upregulated by vasoactive intestinal peptide and may be involved in
            its stimulatory effect on certain tumor cells. The encoded protein
            contains one homeobox and nine zinc finger domains, suggesting that
            it functions as a transcription factor. This gene is also
            upregulated in normal proliferative tissues. Finally, the encoded
            protein may increase the viability of certain cell types through
            modulation of p53 activity. Alternatively spliced transcript
            variants encoding the same protein have been described. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) differs in the 5' UTR compared
            to variant 3. All five variants encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC075794.1, AF250860.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145774 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1102
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.13"
     Protein         1..1102
                     /product="activity-dependent neuroprotector homeobox
                     protein"
                     /note="ADNP homeobox 1; activity-dependent neuroprotective
                     protein; activity-dependent neuroprotector"
                     /calculated_mol_wt=123432
     Region          1..754
                     /region_name="ADNP_N"
                     /note="Activity-dependent neuroprotector homeobox protein
                     N-terminal; pfam19627"
                     /db_xref="CDD:437459"
     Site            98
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            348
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z103; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Region          354..443
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Region          354..361
                     /region_name="Neuroprotective peptide (NAP).
                     /evidence=ECO:0000269|PubMed:19091000"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            409
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            413
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Region          491..510
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Site            order(498..500,501..502,506,509,519,522..526,528..529)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275371"
     Region          514..531
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Site            608
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Region          691..712
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            709
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            736
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            738
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z103; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Region          <768..811
                     /region_name="HOX"
                     /note="Homeodomain; smart00389"
                     /db_xref="CDD:197696"
     Site            805
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Region          851..1030
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            876
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            878
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            886
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JKL8; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            889
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z103; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            921
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            953
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            955
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            1035
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            1042
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Region          1043..1102
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            1071
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z103; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     CDS             1..1102
                     /gene="ADNP"
                     /gene_synonym="ADNP1; HVDAS; MRD28"
                     /coded_by="NM_015339.5:793..4101"
                     /db_xref="CCDS:CCDS13433.1"
                     /db_xref="GeneID:23394"
                     /db_xref="HGNC:HGNC:15766"
                     /db_xref="MIM:611386"
ORIGIN      
        1 mfqlpvnnlg slrkarktvk kilsdigley ckehiedfkq fepndfylkn ttwedvglwd
       61 psltknqdyr tkpfccsacp fsskffsayk shfrnvhsed fenrillncp yctfnadkkt
      121 lethikifha pnasapsssl stfkdknknd glkpkqadsv eqavyyckkc tyrdplyeiv
      181 rkhiyrehfq hvaapyiaka gekslngavp lgsnareess ihckrclfmp ksyealvqhv
      241 iedherigyq vtamightnv vvprskplml iapkpqdkks mglpprigsl asgnvrslps
      301 qqmvnrlsip kpnlnstgvn mmssvhlqqn nygvksvgqg ysvgqsmrlg lggnapvsip
      361 qqsqsvkqll psgngrsygl gseqrsqapa ryslqsanas slssgqlksp slsqsqasrv
      421 lgqssskpaa aatgpppgnt sstqkwkict icnelfpenv ysvhfekehk aekvpavany
      481 imkihnftsk clycnrylpt dtllnhmlih glscpycrst fndvekmaah mrmvhideem
      541 gpktdstlsf dltlqqgsht nihllvttyn lrdapaesva yhaqnnppvp pkpqpkvqek
      601 adipvksspq aavpykkdvg ktlcplcfsi lkgpisdala hhlrerhqvi qtvhpvekkl
      661 tykcihclgv ytsnmtasti tlhlvhcrgv gktqngqdkt napsrlnqsp slapvkrtye
      721 qmefpllkkr kldddsdsps ffeekpeepv vlaldpkghe ddsyearksf ltkyfnkqpy
      781 ptrreiekla aslwlwksdi ashfsnkrkk cvrdcekykp gvllgfnmke lnkvkhemdf
      841 daewlfenhd ekdsrvnask tadkklnlgk eddsssdsfe nleeesnesg spfdpvfeve
      901 pkisndnpee hvlkvipeda seseekldqk edgskyetih lteeptklmh nasdsevdqd
      961 dvvewkdgas psesgpgsqq vsdfedntce mkpgtwsdes sqsedarssk paakkkatmq
     1021 gdreqlkwkn ssygkvegfw skdqsqwkna senderlsnp qiewqnstid sedgeqfdnm
     1081 tdgvaepmhg slagvklssq qa
//
LOCUS       NP_004333                538 aa            linear   PRI 10-APR-2023
DEFINITION  caldesmon isoform 2 [Homo sapiens].
ACCESSION   NP_004333
VERSION     NP_004333.1
DBSOURCE    REFSEQ: accession NM_004342.7
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 538)
  AUTHORS   Chen R, Zhang S, Li H, Yang M, Lu Y and Zhang X.
  TITLE     METTL14 Promotes Oral Squamous Cell Carcinoma Progression by
            Regulating the mRNA and m6A Levels of CALD1
  JOURNAL   J Environ Pathol Toxicol Oncol 42 (3), 71-81 (2023)
   PUBMED   37017680
  REMARK    GeneRIF: METTL14 Promotes Oral Squamous Cell Carcinoma Progression
            by Regulating the mRNA and m6A Levels of CALD1.
REFERENCE   2  (residues 1 to 538)
  AUTHORS   Zhang LY, Ge XL, Li Z, Tang YJ, Xiong YY, Li XJ, Liu JF, Wanggou
            SY, Li CT, Yang K, Chen X, Hu ZL, Liu YS and Liu ZX.
  TITLE     Fibroblasts play a potential role in bone destruction via
            osteopontin related caldesmon expression and polymerization in
            human non-functioning pituitary adenomas
  JOURNAL   Sci Rep 7 (1), 17523 (2017)
   PUBMED   29235490
  REMARK    GeneRIF: Proteomic analysis revealed a group of molecules
            associated with cytoskeleton organization, including caldesmon,
            were differentially expressed between fibroblasts isolated from
            bone destruction non-functioning pituitary adenomas (BD-NFPAs) and
            fibroblasts isolated from non-bone destruction NFPAs (NBD-NFPAs).
            The secreted proteins analysis found that osteopontin was
            significantly upregulated in BD-NFPAs fibroblasts.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 538)
  AUTHORS   Snit M, Nabrdalik K, Dlugaszek M, Gumprecht J, Trautsolt W,
            Gorczynska-Kosiorz S and Grzeszczak W.
  TITLE     Association of rs 3807337 polymorphism of CALD1 gene with diabetic
            nephropathy occurrence in type 1 diabetes - preliminary results of
            a family-based study
  JOURNAL   Endokrynol Pol 68 (1), 13-17 (2017)
   PUBMED   28255976
  REMARK    GeneRIF: rs 3807337 polymorphism of CALD1 gene is associated with
            diabetic nephropathy occurrence in type 1 diabetes.
REFERENCE   4  (residues 1 to 538)
  AUTHORS   De Marchi T, Timmermans AM, Smid M, Look MP, Stingl C, Opdam M,
            Linn SC, Sweep FC, Span PN, Kliffen M, van Deurzen CH, Luider TM,
            Foekens JA, Martens JW and Umar A.
  TITLE     Annexin-A1 and caldesmon are associated with resistance to
            tamoxifen in estrogen receptor positive recurrent breast cancer
  JOURNAL   Oncotarget 7 (3), 3098-3110 (2016)
   PUBMED   26657294
  REMARK    GeneRIF: ANXA1 and CALD1 proteins are independent markers for
            tamoxifen therapy outcome and are associated to fast tumor
            progression.
REFERENCE   5  (residues 1 to 538)
  AUTHORS   Lee MS, Lee J, Kim JH, Kim WT, Kim WJ, Ahn H and Park J.
  TITLE     Overexpression of caldesmon is associated with tumor progression in
            patients with primary non-muscle-invasive bladder cancer
  JOURNAL   Oncotarget 6 (37), 40370-40384 (2015)
   PUBMED   26430961
  REMARK    GeneRIF: Data indicate that low-molecular-weight caldesmon isoforms
            (L-CAD) promotes migration and invasiveness of urothelial bladder
            carcinoma (BC) cells.
REFERENCE   6  (residues 1 to 538)
  AUTHORS   der Terrossian E, Deprette C, Lebbar I and Cassoly R.
  TITLE     Purification and characterization of erythrocyte caldesmon.
            Hypothesis for an actin-linked regulation of a contractile activity
            in the red blood cell membrane
  JOURNAL   Eur J Biochem 219 (1-2), 503-511 (1994)
   PUBMED   8307018
REFERENCE   7  (residues 1 to 538)
  AUTHORS   Hayashi K, Yano H, Hashida T, Takeuchi R, Takeda O, Asada K,
            Takahashi E, Kato I and Sobue K.
  TITLE     Genomic structure of the human caldesmon gene
  JOURNAL   Proc Natl Acad Sci U S A 89 (24), 12122-12126 (1992)
   PUBMED   1465449
REFERENCE   8  (residues 1 to 538)
  AUTHORS   Adam LP, Gapinski CJ and Hathaway DR.
  TITLE     Phosphorylation sequences in h-caldesmon from phorbol
            ester-stimulated canine aortas
  JOURNAL   FEBS Lett 302 (3), 223-226 (1992)
   PUBMED   1601129
REFERENCE   9  (residues 1 to 538)
  AUTHORS   Humphrey MB, Herrera-Sosa H, Gonzalez G, Lee R and Bryan J.
  TITLE     Cloning of cDNAs encoding human caldesmons
  JOURNAL   Gene 112 (2), 197-204 (1992)
   PUBMED   1555769
REFERENCE   10 (residues 1 to 538)
  AUTHORS   Novy RE, Lin JL and Lin JJ.
  TITLE     Characterization of cDNA clones encoding a human fibroblast
            caldesmon isoform and analysis of caldesmon expression in normal
            and transformed cells
  JOURNAL   J Biol Chem 266 (25), 16917-16924 (1991)
   PUBMED   1885618
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB090561.1, BC040354.1,
            DA546174.1, AU134367.1, CV573441.1, CA447404.1 and CN314587.1.
            
            Summary: This gene encodes a calmodulin- and actin-binding protein
            that plays an essential role in the regulation of smooth muscle and
            nonmuscle contraction. The conserved domain of this protein
            possesses the binding activities to Ca(2+)-calmodulin, actin,
            tropomyosin, myosin, and phospholipids. This protein is a potent
            inhibitor of the actin-tropomyosin activated myosin MgATPase, and
            serves as a mediating factor for Ca(2+)-dependent inhibition of
            smooth muscle contraction. Alternative splicing of this gene
            results in multiple transcript variants encoding distinct isoforms.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site and lacks an alternate in-frame exon in the central
            coding region, compared to variant 1. It is mainly expressed in
            non-muscle tissues or cells. The resulting isoform (2, also known
            as WI-38 l-CaD II) lacks an internal region, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.171881.1, HM005640.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..538
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q33"
     Protein         1..538
                     /product="caldesmon isoform 2"
                     /note="testis secretory sperm-binding protein Li 227n"
                     /calculated_mol_wt=62532
     Site            12
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q05682.3)"
     Site            21
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q05682.3)"
     Region          26..207
                     /region_name="Myosin and calmodulin-binding.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05682.3)"
     Region          26..94
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05682.3)"
     Region          53..525
                     /region_name="Caldesmon"
                     /note="pfam02029"
                     /db_xref="CDD:426572"
     Site            129
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q05682.3)"
     Site            196
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q05682.3)"
     Site            202
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q05682.3)"
     CDS             1..538
                     /gene="CALD1"
                     /gene_synonym="CDM; H-CAD; h-CD; HCAD; L-CAD; LCAD; NAG22"
                     /coded_by="NM_004342.7:246..1862"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS5834.1"
                     /db_xref="GeneID:800"
                     /db_xref="HGNC:HGNC:1441"
                     /db_xref="MIM:114213"
ORIGIN      
        1 mddferrrel rrqkreemrl eaeriayqrn dddeeeaare rrrrarqerl rqkqeeeslg
       61 qvtdqvevna qnsvpdeeak ttttntqveg ddeaaflerl arreerrqkr lqealerqke
      121 fdptitdasl slpsrrmqnd taenetteke eksesrqery eieetetvtk syqkndwrda
      181 eenkkedkek eeeeeekpkr gsigenqikd ekikkdkepk eevksfmdrk kgftevksqn
      241 gefmthklkh tentfsrpgg rasvdtkeae gapqveagkr leelrrrrge teseefeklk
      301 qkqqeaalel eelkkkreer rkvleeeeqr rkqeeadrkl reeeekrrlk eeierrraea
      361 aekrqkmped glsddkkpfk cftpkgsslk ieeraeflnk svqkssgvks thqaaivski
      421 dsrleqytsa iegtksakpt kpaasdlpvp aegvrniksm wekgnvfssp taagtpnket
      481 aglkvgvssr inewltktpd gnkspapkps dlrpgdvssk rnlwekqsvd kvtsptkv
//
LOCUS       NP_001358001             920 aa            linear   PRI 10-APR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 11 [Homo sapiens].
ACCESSION   NP_001358001
VERSION     NP_001358001.1
DBSOURCE    REFSEQ: accession NM_001371072.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 920)
  AUTHORS   Boehm D, Lam V, Schnolzer M and Ott M.
  TITLE     The lysine methyltransferase SMYD5 amplifies HIV-1 transcription
            and is post-transcriptionally upregulated by Tat and USP11
  JOURNAL   Cell Rep 42 (3), 112234 (2023)
   PUBMED   36897778
  REMARK    GeneRIF: The lysine methyltransferase SMYD5 amplifies HIV-1
            transcription and is post-transcriptionally upregulated by Tat and
            USP11.
REFERENCE   2  (residues 1 to 920)
  AUTHORS   Wang R, Wu D, Dai J, Shen J, Rong J, Chen Z, Jiao Y and Qi X.
  TITLE     USP11 plays a critical role in the onset and progression of acute
            graft-versus-host diseaseNovel target for precision therapeutics
  JOURNAL   Pharmacol Res 189, 106707 (2023)
   PUBMED   36822452
  REMARK    GeneRIF: USP11 plays a critical role in the onset and progression
            of acute graft-versus-host diseaseNovel target for precision
            therapeutics.
REFERENCE   3  (residues 1 to 920)
  AUTHORS   Jin Q, Gutierrez Diaz B, Pieters T, Zhou Y, Narang S, Fijalkwoski
            I, Borin C, Van Laere J, Payton M, Cho BK, Han C, Sun L, Serafin V,
            Yacu G, Von Loocke W, Basso G, Veltri G, Dreveny I, Ben-Sahra I,
            Goo YA, Safgren SL, Tsai YC, Bornhauser B, Suraneni PK, Gaspar-Maia
            A, Kandela I, Van Vlierberghe P, Crispino JD, Tsirigos A and
            Ntziachristos P.
  TITLE     Oncogenic deubiquitination controls tyrosine kinase signaling and
            therapy response in acute lymphoblastic leukemia
  JOURNAL   Sci Adv 8 (49), eabq8437 (2022)
   PUBMED   36490346
  REMARK    GeneRIF: Oncogenic deubiquitination controls tyrosine kinase
            signaling and therapy response in acute lymphoblastic leukemia.
REFERENCE   4  (residues 1 to 920)
  AUTHORS   Yan Y, Wang X, Chaput D, Shin MK, Koh Y, Gan L, Pieper AA, Woo JA
            and Kang DE.
  TITLE     X-linked ubiquitin-specific peptidase 11 increases tauopathy
            vulnerability in women
  JOURNAL   Cell 185 (21), 3913-3930 (2022)
   PUBMED   36198316
  REMARK    GeneRIF: X-linked ubiquitin-specific peptidase 11 increases
            tauopathy vulnerability in women.
REFERENCE   5  (residues 1 to 920)
  AUTHORS   Kaushal K, Tyagi A, Karapurkar JK, Kim EJ, Tanguturi P, Kim KS,
            Jung HS and Ramakrishna S.
  TITLE     Genome-Wide CRISPR/Cas9-Based Screening for Deubiquitinase
            Subfamily Identifies Ubiquitin-Specific Protease 11 as a Novel
            Regulator of Osteogenic Differentiation
  JOURNAL   Int J Mol Sci 23 (2), 856 (2022)
   PUBMED   35055037
  REMARK    GeneRIF: Genome-Wide CRISPR/Cas9-Based Screening for Deubiquitinase
            Subfamily Identifies Ubiquitin-Specific Protease 11 as a Novel
            Regulator of Osteogenic Differentiation.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 920)
  AUTHORS   Thiselton DL, McDowall J, Brandau O, Ramser J, d'Esposito F,
            Bhattacharya SS, Ross MT, Hardcastle AJ and Meindl A.
  TITLE     An integrated, functionally annotated gene map of the DXS8026-ELK1
            interval on human Xp11.3-Xp11.23: potential hotspot for
            neurogenetic disorders
  JOURNAL   Genomics 79 (4), 560-572 (2002)
   PUBMED   11944989
  REMARK    Erratum:[Genomics 2002 Jun;79(6):891]
REFERENCE   7  (residues 1 to 920)
  AUTHORS   Stoddart KL, Jermak C, Nagaraja R, Schlessinger D and Bech-Hansen
            NT.
  TITLE     Physical map covering a 2 Mb region in human xp11.3 distal to
            DX6849
  JOURNAL   Gene 227 (1), 111-116 (1999)
   PUBMED   9931462
REFERENCE   8  (residues 1 to 920)
  AUTHORS   Brandau O, Nyakatura G, Jedele KB, Platzer M, Achatz H, Ross M,
            Murken J, Rosenthal A and Meindl A.
  TITLE     UHX1 and PCTK1: precise characterisation and localisation within a
            gene-rich region in Xp11.23 and evaluation as candidate genes for
            retinal diseases mapped to Xp21.1-p11.2
  JOURNAL   Eur J Hum Genet 6 (5), 459-466 (1998)
   PUBMED   9801870
REFERENCE   9  (residues 1 to 920)
  AUTHORS   D'Andrea A and Pellman D.
  TITLE     Deubiquitinating enzymes: a new class of biological regulators
  JOURNAL   Crit Rev Biochem Mol Biol 33 (5), 337-352 (1998)
   PUBMED   9827704
  REMARK    Review article
REFERENCE   10 (residues 1 to 920)
  AUTHORS   Swanson DA, Freund CL, Ploder L, McInnes RR and Valle D.
  TITLE     A ubiquitin C-terminal hydrolase gene on the proximal short arm of
            the X chromosome: implications for X-linked retinal disorders
  JOURNAL   Hum Mol Genet 5 (4), 533-538 (1996)
   PUBMED   8845848
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC140849.1 and AB073597.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: Protein ubiquitination controls many intracellular
            processes, including cell cycle progression, transcriptional
            activation, and signal transduction. This dynamic process,
            involving ubiquitin conjugating enzymes and deubiquitinating
            enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are
            cysteine proteases that specifically cleave ubiquitin from
            ubiquitin-conjugated protein substrates. This gene encodes a
            deubiquitinating enzyme which lies in a gene cluster on chromosome
            Xp11.23 [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB073597.1, U44839.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377107.7/ ENSP00000366311.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..920
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.3"
     Protein         1..920
                     /product="ubiquitin carboxyl-terminal hydrolase 11"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin-specific processing protease 11;
                     deubiquitinating enzyme 11; ubiquitin thiolesterase 11;
                     ubiquitin carboxyl-terminal hydrolase, X-linked; ubiquitin
                     thioesterase 11"
                     /calculated_mol_wt=104900
     Region          56..886
                     /region_name="UBP12"
                     /note="Ubiquitin C-terminal hydrolase [Posttranslational
                     modification, protein turnover, chaperones]; COG5560"
                     /db_xref="CDD:227847"
     CDS             1..920
                     /gene="USP11"
                     /gene_synonym="UHX1"
                     /coded_by="NM_001371072.1:36..2798"
                     /db_xref="CCDS:CCDS14277.2"
                     /db_xref="GeneID:8237"
                     /db_xref="HGNC:HGNC:12609"
                     /db_xref="MIM:300050"
ORIGIN      
        1 matvaanpaa aaaavaaaaa vtedrepqhe elpgldsqwr qiengesgre rplrageswf
       61 lvekhwykqw eayvqggdqd sstfpgcinn atlfqdeinw rlkeglvege dyvllpaaaw
      121 hylvswygle hgqppierkv ielpniqkve vypvelllvr hndlgkshtv qfshtdsigl
      181 vlrtarerfl vepqedtrlw aknsegsldr lydthitvld aaletgqlii metrkkdgtw
      241 psaqlhvmnn nmseededfk gqpgicgltn lgntcfmnsa lqclsnvpql teyflnncyl
      301 eelnfrnplg mkgeiaeaya dlvkqawsgh hrsivphvfk nkvghfasqf lgyqqhdsqe
      361 llsflldglh edlnrvkkke yvelcdaagr pdqevaqeaw qnhkrrndsv ivdtfhglfk
      421 stlvcpdcgn vsvtfdpfcy lsvplpishk rvlevffipm dprrkpeqhr lvvpkkgkis
      481 dlcvalskht gispermmva dvfshrfykl yqleeplssi ldrddifvye vsgrieaieg
      541 sredivvpvy lrertpardy nnsyyglmlf ghpllvsvpr drftweglyn vlmyrlsryv
      601 tkpnsddedd gdekeddeed kddvpgpstg gslrdpepeq agpssgvtnr cpflldnclg
      661 tsqwpprrrr kqlftlqtvn sngtsdrtts peevhaqpyi aidwepemkk ryydeveaeg
      721 yvkhdcvgyv mkkapvrlqe cielfttvet lekenpwycp sckqhqlatk kldlwmlpei
      781 liihlkrfsy tkfsrekldt lvefpirdld fsefviqpqn esnpelykyd liavsnhygg
      841 mrdghyttfa cnkdsgqwhy fddnsvspvn enqieskaay vlfyqrqdva rrllspagss
      901 gapaspacss ppssefmdvn
//
LOCUS       NP_004293                505 aa            linear   PRI 17-APR-2023
DEFINITION  activin receptor type-1B isoform a precursor [Homo sapiens].
ACCESSION   NP_004293
VERSION     NP_004293.1
DBSOURCE    REFSEQ: accession NM_004302.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 505)
  AUTHORS   Preechanukul A, Yimthin T, Tandhavanant S, Brummaier T,
            Chomkatekaew C, Das S, Syed Ahamed Kabeer B, Toufiq M, Rinchai D,
            West TE, Chaussabel D, Chantratita N and Garand M.
  TITLE     Abundance of ACVR1B transcript is elevated during septic
            conditions: Perspectives obtained from a hands-on reductionist
            investigation
  JOURNAL   Front Immunol 14, 1072732 (2023)
   PUBMED   37020544
  REMARK    GeneRIF: Abundance of ACVR1B transcript is elevated during septic
            conditions: Perspectives obtained from a hands-on reductionist
            investigation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 505)
  AUTHORS   Lee ES, Guo T, Srivastava RK, Shabbir A and Ibanez CF.
  TITLE     Activin receptor ALK4 promotes adipose tissue hyperplasia by
            suppressing differentiation of adipocyte precursors
  JOURNAL   J Biol Chem 299 (1), 102716 (2023)
   PUBMED   36403856
  REMARK    GeneRIF: Activin receptor ALK4 promotes adipose tissue hyperplasia
            by suppressing differentiation of adipocyte precursors.
REFERENCE   3  (residues 1 to 505)
  AUTHORS   Hillege MMG, Shi A, Galli RA, Wu G, Bertolino P, Hoogaars WMH and
            Jaspers RT.
  TITLE     Lack of Tgfbr1 and Acvr1b synergistically stimulates myofibre
            hypertrophy and accelerates muscle regeneration
  JOURNAL   Elife 11, e77610 (2022)
   PUBMED   35323108
  REMARK    GeneRIF: Lack of Tgfbr1 and Acvr1b synergistically stimulates
            myofibre hypertrophy and accelerates muscle regeneration.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 505)
  AUTHORS   Yadav ML, Ranjan P, Das P, Jain D, Kumar A and Mohapatra B.
  TITLE     Implication of rare genetic variants of NODAL and ACVR1B in
            congenital heart disease patients from Indian population
  JOURNAL   Exp Cell Res 409 (1), 112869 (2021)
   PUBMED   34666056
  REMARK    GeneRIF: Implication of rare genetic variants of NODAL and ACVR1B
            in congenital heart disease patients from Indian population.
REFERENCE   5  (residues 1 to 505)
  AUTHORS   Roijer E, Miyazono K, Astrom AK, Geurts van Kessel A, ten Dijke P
            and Stenman G.
  TITLE     Chromosomal localization of three human genes encoding members of
            the TGF-beta superfamily of type I serine/threonine kinase
            receptors
  JOURNAL   Mamm Genome 9 (3), 266-268 (1998)
   PUBMED   9501322
REFERENCE   6  (residues 1 to 505)
  AUTHORS   De Winter JP, De Vries CJ, Van Achterberg TA, Ameerun RF, Feijen A,
            Sugino H, De Waele P, Huylebroeck D, Verschueren K and Van Den
            Eijden-Van Raaij AJ.
  TITLE     Truncated activin type II receptors inhibit bioactivity by the
            formation of heteromeric complexes with activin type I. receptors
  JOURNAL   Exp Cell Res 224 (2), 323-334 (1996)
   PUBMED   8612709
REFERENCE   7  (residues 1 to 505)
  AUTHORS   Xu J, McKeehan K, Matsuzaki K and McKeehan WL.
  TITLE     Inhibin antagonizes inhibition of liver cell growth by activin by a
            dominant-negative mechanism
  JOURNAL   J Biol Chem 270 (11), 6308-6313 (1995)
   PUBMED   7890768
REFERENCE   8  (residues 1 to 505)
  AUTHORS   Xu J, Matsuzaki K, McKeehan K, Wang F, Kan M and McKeehan WL.
  TITLE     Genomic structure and cloned cDNAs predict that four variants in
            the kinase domain of serine/threonine kinase receptors arise by
            alternative splicing and poly(A) addition
  JOURNAL   Proc Natl Acad Sci U S A 91 (17), 7957-7961 (1994)
   PUBMED   8058741
REFERENCE   9  (residues 1 to 505)
  AUTHORS   Carcamo J, Weis FM, Ventura F, Wieser R, Wrana JL, Attisano L and
            Massague J.
  TITLE     Type I receptors specify growth-inhibitory and transcriptional
            responses to transforming growth factor beta and activin
  JOURNAL   Mol Cell Biol 14 (6), 3810-3821 (1994)
   PUBMED   8196624
REFERENCE   10 (residues 1 to 505)
  AUTHORS   ten Dijke P, Ichijo H, Franzen P, Schulz P, Saras J, Toyoshima H,
            Heldin CH and Miyazono K.
  TITLE     Activin receptor-like kinases: a novel subclass of cell-surface
            receptors with predicted serine/threonine kinase activity
  JOURNAL   Oncogene 8 (10), 2879-2887 (1993)
   PUBMED   8397373
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025259.49 and BC000254.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes an activin A type IB receptor. Activins
            are dimeric growth and differentiation factors which belong to the
            transforming growth factor-beta (TGF-beta) superfamily of
            structurally related signaling proteins. Activins signal through a
            heteromeric complex of receptor serine kinases which include at
            least two type I and two type II receptors. This protein is a type
            I receptor which is essential for signaling. Mutations in this gene
            are associated with pituitary tumors. Alternate splicing results in
            multiple transcript variants.[provided by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (1) encodes isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC040531.1, Z22536.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000257963.9/ ENSP00000257963.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..505
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     Protein         1..505
                     /product="activin receptor type-1B isoform a precursor"
                     /EC_number="2.7.11.30"
                     /note="activin receptor-like kinase 4; activin A receptor,
                     type II-like kinase 4; activin A receptor, type IB;
                     serine/threonine-protein kinase receptor R2"
                     /calculated_mol_wt=53891
     sig_peptide     1..31
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2934
     Region          32..104
                     /region_name="Activin_recp"
                     /note="Activin types I and II receptor domain; pfam01064"
                     /db_xref="CDD:426025"
     Region          177..207
                     /region_name="GS"
                     /note="GS motif; smart00467"
                     /db_xref="CDD:197743"
     Region          211..498
                     /region_name="STKc_TGFbR1_ACVR1b_ACVR1c"
                     /note="Catalytic domain of the Serine/Threonine Kinases,
                     Transforming Growth Factor beta Type I Receptor and
                     Activin Type IB/IC Receptors; cd14143"
                     /db_xref="CDD:271045"
     Site            order(213..217,221,232,234,262,282..285,289,291,335,337,
                     339..340,342,353,356,376..379)
                     /site_type="active"
                     /db_xref="CDD:271045"
     Site            order(213..219,221,232,234,282..283,285,289,339..340,342,
                     353)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271045"
     Site            order(217,289,291,335,337,339,356,376..379)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271045"
     Site            order(244..245,248..249,252..253,267,269)
                     /site_type="other"
                     /note="FKBP12 binding site [polypeptide binding]"
                     /db_xref="CDD:271045"
     Site            352..379
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271045"
     CDS             1..505
                     /gene="ACVR1B"
                     /gene_synonym="ACTRIB; ACVRLK4; ALK4; SKR2"
                     /coded_by="NM_004302.5:46..1563"
                     /note="isoform a precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS8816.1"
                     /db_xref="GeneID:91"
                     /db_xref="HGNC:HGNC:172"
                     /db_xref="MIM:601300"
ORIGIN      
        1 maesagassf fplvvlllag sggsgprgvq allcactscl qanytcetdg acmvsifnld
       61 gmehhvrtci pkvelvpagk pfyclssedl rnthccytdy cnridlrvps ghlkepehps
      121 mwgpvelvgi iagpvfllfl iiiivflvin yhqrvyhnrq rldmedpsce mclskdktlq
      181 dlvydlstsg sgsglplfvq rtvartivlq eiigkgrfge vwrgrwrggd vavkifssre
      241 erswfreaei yqtvmlrhen ilgfiaadnk dngtwtqlwl vsdyhehgsl fdylnrytvt
      301 iegmiklals aasglahlhm eivgtqgkpg iahrdlkskn ilvkkngmca iadlglavrh
      361 davtdtidia pnqrvgtkry mapevldeti nmkhfdsfkc adiyalglvy weiarrcnsg
      421 gvheeyqlpy ydlvpsdpsi eemrkvvcdq klrpnipnww qsyealrvmg kmmrecwyan
      481 gaarltalri kktlsqlsvq edvki
//
LOCUS       NP_002735                592 aa            linear   PRI 17-APR-2023
DEFINITION  protein kinase C zeta type isoform 1 [Homo sapiens].
ACCESSION   NP_002735
VERSION     NP_002735.3
DBSOURCE    REFSEQ: accession NM_002744.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 592)
  AUTHORS   Zhang F, Zheng Z, Wang L, Zeng W, Wei W, Zhang C, Zhao Z and Liang
            W.
  TITLE     PKC-zeta mediated reduction of the extracellular
            vesicles-associated TGF-beta1 overcomes radiotherapy resistance in
            breast cancer
  JOURNAL   Breast Cancer Res 25 (1), 38 (2023)
   PUBMED   37029374
  REMARK    GeneRIF: PKC-zeta mediated reduction of the extracellular
            vesicles-associated TGF-beta1 overcomes radiotherapy resistance in
            breast cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 592)
  AUTHORS   Shimada E, Matsumoto Y, Nakagawa M, Susuki Y, Endo M, Setsu N,
            Fujiwara T, Iida K, Nabeshima A, Yahiro K, Kimura A, Hirose T,
            Kanahori M, Oyama R, Oda Y and Nakashima Y.
  TITLE     Methylation-mediated silencing of protein kinase C zeta induces
            apoptosis avoidance through ATM/CHK2 inactivation in
            dedifferentiated chondrosarcoma
  JOURNAL   Br J Cancer 126 (9), 1289-1300 (2022)
   PUBMED   35017658
  REMARK    GeneRIF: Methylation-mediated silencing of protein kinase C zeta
            induces apoptosis avoidance through ATM/CHK2 inactivation in
            dedifferentiated chondrosarcoma.
REFERENCE   3  (residues 1 to 592)
  AUTHORS   Shaha S, Patel K, Saadat S, Panahi S, de Almeida MM, Voronova A and
            Riddell M.
  TITLE     Human placenta and trophoblasts simultaneously express three
            isoforms of atypical protein kinase-c
  JOURNAL   Placenta 119, 39-43 (2022)
   PUBMED   35124330
  REMARK    GeneRIF: Human placenta and trophoblasts simultaneously express
            three isoforms of atypical protein kinase-c.
REFERENCE   4  (residues 1 to 592)
  AUTHORS   Perveen K, Quach A, McPhee A, Prescott SL, Barry SC, Hii CS and
            Ferrante A.
  TITLE     Cord Blood T Cells Expressing High and Low PKCzeta Levels Develop
            into Cells with a Propensity to Display Th1 and Th9 Cytokine
            Profiles, Respectively
  JOURNAL   Int J Mol Sci 22 (9), 4907 (2021)
   PUBMED   34063174
  REMARK    GeneRIF: Cord Blood T Cells Expressing High and Low PKCzeta Levels
            Develop into Cells with a Propensity to Display Th1 and Th9
            Cytokine Profiles, Respectively.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 592)
  AUTHORS   Tandon M, Othman AH, Winogradzki M and Pratap J.
  TITLE     Bone metastatic breast cancer cells display downregulation of
            PKC-zeta with enhanced glutamine metabolism
  JOURNAL   Gene 775, 145419 (2021)
   PUBMED   33444686
  REMARK    GeneRIF: Bone metastatic breast cancer cells display downregulation
            of PKC-zeta with enhanced glutamine metabolism.
REFERENCE   6  (residues 1 to 592)
  AUTHORS   Tippmer S, Quitterer U, Kolm V, Faussner A, Roscher A, Mosthaf L,
            Muller-Esterl W and Haring H.
  TITLE     Bradykinin induces translocation of the protein kinase C isoforms
            alpha, epsilon, and zeta
  JOURNAL   Eur J Biochem 225 (1), 297-304 (1994)
   PUBMED   7925449
REFERENCE   7  (residues 1 to 592)
  AUTHORS   el Benna J, Faust LP and Babior BM.
  TITLE     The phosphorylation of the respiratory burst oxidase component
            p47phox during neutrophil activation. Phosphorylation of sites
            recognized by protein kinase C and by proline-directed kinases
  JOURNAL   J Biol Chem 269 (38), 23431-23436 (1994)
   PUBMED   8089108
REFERENCE   8  (residues 1 to 592)
  AUTHORS   Yao L, Kawakami Y and Kawakami T.
  TITLE     The pleckstrin homology domain of Bruton tyrosine kinase interacts
            with protein kinase C
  JOURNAL   Proc Natl Acad Sci U S A 91 (19), 9175-9179 (1994)
   PUBMED   7522330
REFERENCE   9  (residues 1 to 592)
  AUTHORS   Kawabe J, Iwami G, Ebina T, Ohno S, Katada T, Ueda Y, Homcy CJ and
            Ishikawa Y.
  TITLE     Differential activation of adenylyl cyclase by protein kinase C
            isoenzymes
  JOURNAL   J Biol Chem 269 (24), 16554-16558 (1994)
   PUBMED   8206971
  REMARK    Erratum:[J Biol Chem 1994 Sep 9;269(36):22912]
REFERENCE   10 (residues 1 to 592)
  AUTHORS   Jakobovits A, Rosenthal A and Capon DJ.
  TITLE     Trans-activation of HIV-1 LTR-directed gene expression by tat
            requires protein kinase C
  JOURNAL   EMBO J 9 (4), 1165-1170 (1990)
   PUBMED   2182321
  REMARK    Erratum:[EMBO J 1990 Oct;9(10):3413]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL391845.49, BC014270.2 and
            BC008058.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 22, 2004 this sequence version replaced NP_002735.2.
            
            Summary: Protein kinase C (PKC) zeta is a member of the PKC family
            of serine/threonine kinases which are involved in a variety of
            cellular processes such as proliferation, differentiation and
            secretion. Unlike the classical PKC isoenzymes which are
            calcium-dependent, PKC zeta exhibits a kinase activity which is
            independent of calcium and diacylglycerol but not of
            phosphatidylserine. Furthermore, it is insensitive to typical PKC
            inhibitors and cannot be activated by phorbol ester. Unlike the
            classical PKC isoenzymes, it has only a single zinc finger module.
            These structural and biochemical properties indicate that the zeta
            subspecies is related to, but distinct from other isoenzymes of
            PKC. Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC008058.2, BC014270.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378567.8/ ENSP00000367830.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..592
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     Protein         1..592
                     /product="protein kinase C zeta type isoform 1"
                     /EC_number="2.7.11.13"
                     /note="protein kinase C zeta type; nPKC-zeta"
                     /calculated_mol_wt=67529
     Region          16..98
                     /region_name="PB1_aPKC"
                     /note="PB1 domain is an essential modular domain of the
                     atypical protein kinase C (aPKC) which in complex with
                     Par6 and Par3 proteins is crucial for establishment of
                     apical-basal polarity of animal cells. PB1 domain is a
                     modular domain mediating specific...; cd06404"
                     /db_xref="CDD:99725"
     Site            order(62,64,66,75)
                     /site_type="other"
                     /note="PB1 interaction surface [polypeptide binding]"
                     /db_xref="CDD:99725"
     Region          79..145
                     /region_name="Interaction with SQSTM1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05513.4)"
     Region          129..183
                     /region_name="C1_aPKC_zeta"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in the atypical protein kinase C (aPKC) zeta type;
                     cd21095"
                     /db_xref="CDD:410448"
     Region          236..592
                     /region_name="STKc_aPKC_zeta"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Atypical Protein Kinase C zeta; cd05617"
                     /db_xref="CDD:270768"
     Site            order(258..262,266,279,281,314,330..331,333,337,339,376,
                     378,380..381,383,393..394,397,411..416,443,449,452)
                     /site_type="active"
                     /db_xref="CDD:270768"
     Site            order(258..262,266,279,281,314,331..333,337,376,378,
                     380..381,383,393..394)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270768"
     Site            order(262,337,339,376,378,380,397,411..416,443,449,452)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270768"
     Site            393..416
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270768"
     Site            410
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PDPK1 and PI3K.
                     /evidence=ECO:0000269|PubMed:15314172,
                     ECO:0000269|PubMed:20332120, ECO:0000269|PubMed:9768361;
                     propagated from UniProtKB/Swiss-Prot (Q05513.4)"
     Site            560
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q05513.4)"
     Site            560
                     /site_type="other"
                     /note="turn motif phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:270768"
     Site            575..580
                     /site_type="other"
                     /note="hydrophobic motif (HM)"
                     /db_xref="CDD:270768"
     Site            591
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P09217; propagated from
                     UniProtKB/Swiss-Prot (Q05513.4)"
     CDS             1..592
                     /gene="PRKCZ"
                     /gene_synonym="PKC-ZETA; PKC2"
                     /coded_by="NM_002744.6:221..1999"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS37.1"
                     /db_xref="GeneID:5590"
                     /db_xref="HGNC:HGNC:9412"
                     /db_xref="MIM:176982"
ORIGIN      
        1 mpsrtgpkme gsggrvrlka hyggdifits vdaattfeel ceevrdmcrl hqqhpltlkw
       61 vdsegdpctv ssqmeleeaf rlarqcrdeg liihvfpstp eqpglpcpge dksiyrrgar
      121 rwrklyrang hlfqakrfnr raycgqcser iwglarqgyr cinckllvhk rchglvpltc
      181 rkhmdsvmps qeppvddkne dadlpseetd giayisssrk hdsikddsed lkpvidgmdg
      241 ikisqglglq dfdlirvigr gsyakvllvr lkkndqiyam kvvkkelvhd dedidwvqte
      301 khvfeqassn pflvglhscf qttsrlflvi eyvnggdlmf hmqrqrklpe eharfyaaei
      361 cialnflher giiyrdlkld nvlldadghi kltdygmcke glgpgdttst fcgtpnyiap
      421 eilrgeeygf svdwwalgvl mfemmagrsp fdiitdnpdm ntedylfqvi lekpiriprf
      481 lsvkashvlk gflnkdpker lgcrpqtgfs dikshaffrs idwdllekkq alppfqpqit
      541 ddygldnfdt qftsepvqlt pddedaikri dqsefegfey inplllstee sv
//
LOCUS       NP_001158023             423 aa            linear   PRI 14-DEC-2022
DEFINITION  disrupted in schizophrenia 1 protein isoform n [Homo sapiens].
ACCESSION   NP_001158023
VERSION     NP_001158023.1
DBSOURCE    REFSEQ: accession NM_001164551.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 423)
  AUTHORS   Li W, Jiang H, Chen X, Yang K, Deng X, Tang Z, Hu Z, Zhang X, Lin
            S, Zou Y and Wu H.
  TITLE     The variants in PTPRB, TRAF3IP3, and DISC1 genes were associated
            with Graves' disease in the Chinese population
  JOURNAL   Medicine (Baltimore) 101 (45), e31501 (2022)
   PUBMED   36397361
  REMARK    GeneRIF: The variants in PTPRB, TRAF3IP3, and DISC1 genes were
            associated with Graves' disease in the Chinese population.
REFERENCE   2  (residues 1 to 423)
  AUTHORS   Wang AL, Chao OY, Nikolaus S, Lamounier-Zepter V, Hollenberg CP,
            Lubec G, Trossbach SV, Korth C and Huston JP.
  TITLE     Disrupted-in-schizophrenia 1 Protein Misassembly Impairs Cognitive
            Flexibility and Social Behaviors in a Transgenic Rat Model
  JOURNAL   Neuroscience 493, 41-51 (2022)
   PUBMED   35461978
  REMARK    GeneRIF: Disrupted-in-schizophrenia 1 Protein Misassembly Impairs
            Cognitive Flexibility and Social Behaviors in a Transgenic Rat
            Model.
REFERENCE   3  (residues 1 to 423)
  AUTHORS   Fricke-Galindo I, Perez-Aldana BE, Macias-Kauffer LR,
            Gonzalez-Arredondo S, Davila-Ortiz de Montellano D, Avina-Cervantes
            CL, Lopez-Lopez M, Rodriguez-Agudelo Y and Monroy-Jaramillo N.
  TITLE     Impact of COMT, PRODH and DISC1 Genetic Variants on Cognitive
            Performance of Patients with Schizophrenia
  JOURNAL   Arch Med Res 53 (4), 388-398 (2022)
   PUBMED   35367090
  REMARK    GeneRIF: Impact of COMT, PRODH and DISC1 Genetic Variants on
            Cognitive Performance of Patients with Schizophrenia.
REFERENCE   4  (residues 1 to 423)
  AUTHORS   Guardiola-Ripoll M, Sotero-Moreno A, Almodovar-Paya C, Hostalet N,
            Guerrero-Pedraza A, Ramiro N, Ortiz-Gil J, Arias B, Madre M,
            Soler-Vidal J, Salvador R, McKenna PJ, Pomarol-Clotet E and
            Fatjo-Vilas M.
  TITLE     Combining fMRI and DISC1 gene haplotypes to understand working
            memory-related brain activity in schizophrenia
  JOURNAL   Sci Rep 12 (1), 7351 (2022)
   PUBMED   35513527
  REMARK    GeneRIF: Combining fMRI and DISC1 gene haplotypes to understand
            working memory-related brain activity in schizophrenia.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 423)
  AUTHORS   Wang J, Su P, Yang J, Xu L, Yuan A, Li C, Zhang T, Dong F, Zhou J,
            Samsom J, Wong AHC and Liu F.
  TITLE     The D2R-DISC1 protein complex and associated proteins are altered
            in schizophrenia and normalized with antipsychotic treatment
  JOURNAL   J Psychiatry Neurosci 47 (2), E134-E147 (2022)
   PUBMED   35361701
  REMARK    GeneRIF: The D2R-DISC1 protein complex and associated proteins are
            altered in schizophrenia and normalized with antipsychotic
            treatment.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 423)
  AUTHORS   Ozeki Y, Tomoda T, Kleiderlein J, Kamiya A, Bord L, Fujii K, Okawa
            M, Yamada N, Hatten ME, Snyder SH, Ross CA and Sawa A.
  TITLE     Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents
            binding to NudE-like (NUDEL) and inhibits neurite outgrowth
  JOURNAL   Proc Natl Acad Sci U S A 100 (1), 289-294 (2003)
   PUBMED   12506198
  REMARK    GeneRIF: Mutant truncation prevents binding to NudE-like (NUDEL)
            and inhibits neurite outgrowth
            Erratum:[Proc Natl Acad Sci U S A. 2004 Sep 21;101(38):13969]
REFERENCE   7  (residues 1 to 423)
  AUTHORS   Blackwood DH, Fordyce A, Walker MT, St Clair DM, Porteous DJ and
            Muir WJ.
  TITLE     Schizophrenia and affective disorders--cosegregation with a
            translocation at chromosome 1q42 that directly disrupts
            brain-expressed genes: clinical and P300 findings in a family
  JOURNAL   Am J Hum Genet 69 (2), 428-433 (2001)
   PUBMED   11443544
REFERENCE   8  (residues 1 to 423)
  AUTHORS   Ekelund J, Hovatta I, Parker A, Paunio T, Varilo T, Martin R,
            Suhonen J, Ellonen P, Chan G, Sinsheimer JS, Sobel E, Juvonen H,
            Arajarvi R, Partonen T, Suvisaari J, Lonnqvist J, Meyer J and
            Peltonen L.
  TITLE     Chromosome 1 loci in Finnish schizophrenia families
  JOURNAL   Hum Mol Genet 10 (15), 1611-1617 (2001)
   PUBMED   11468279
REFERENCE   9  (residues 1 to 423)
  AUTHORS   Millar JK, Christie S, Semple CA and Porteous DJ.
  TITLE     Chromosomal location and genomic structure of the human
            translin-associated factor X gene (TRAX; TSNAX) revealed by
            intergenic splicing to DISC1, a gene disrupted by a translocation
            segregating with schizophrenia
  JOURNAL   Genomics 67 (1), 69-77 (2000)
   PUBMED   10945471
REFERENCE   10 (residues 1 to 423)
  AUTHORS   Millar JK, Wilson-Annan JC, Anderson S, Christie S, Taylor MS,
            Semple CA, Devon RS, St Clair DM, Muir WJ, Blackwood DH and
            Porteous DJ.
  TITLE     Disruption of two novel genes by a translocation co-segregating
            with schizophrenia
  JOURNAL   Hum Mol Genet 9 (9), 1415-1423 (2000)
   PUBMED   10814723
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL626763.11 and FJ804211.1.
            
            Summary: This gene encodes a protein with multiple coiled coil
            motifs which is located in the nucleus, cytoplasm and mitochondria.
            The protein is involved in neurite outgrowth and cortical
            development through its interaction with other proteins. This gene
            is disrupted in a t(1;11)(q42.1;q14.3) translocation which
            segregates with schizophrenia and related psychiatric disorders in
            a large Scottish family. Alternate transcriptional splice variants,
            encoding different isoforms, have been characterized. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (n) lacks multiple 3' exons but
            has an alternate 3' segment, as compared to variant L. The
            resulting isoform (n, also known as isoform 41) is much shorter and
            has a truncated C-terminus, as compared to isoform L.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: FJ804211.1, DRR138522.12085.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..423
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.2"
     Protein         1..423
                     /product="disrupted in schizophrenia 1 protein isoform n"
                     /note="disrupted in schizophrenia 1 protein"
                     /calculated_mol_wt=44524
     Region          1..292
                     /region_name="Interaction with MAP1A.
                     /evidence=ECO:0000269|PubMed:12812986"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRI5.3)"
     Region          1..24
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRI5.3)"
     Region          179..205
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRI5.3)"
     Region          197..203
                     /region_name="Interaction with FBXW7.
                     /evidence=ECO:0000269|PubMed:28727686"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRI5.3)"
     Region          221..257
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRI5.3)"
     Region          278..323
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRI5.3)"
     CDS             1..423
                     /gene="DISC1"
                     /gene_synonym="C1orf136; SCZD9"
                     /coded_by="NM_001164551.2:79..1350"
                     /note="isoform n is encoded by transcript variant n"
                     /db_xref="GeneID:27185"
                     /db_xref="HGNC:HGNC:2888"
                     /db_xref="MIM:605210"
ORIGIN      
        1 mpgggpqgap aaaggggvsh ragsrdclpp aacfrrrrla rrpgymrsst gpgigflspa
       61 vgtlfrfpgg vsgeeshhse srarqcglds rgllvrspvs ksaaaptvts vrgtsahfgi
      121 qlrggtrlpd rlswpcgpgs agwqqefaam dssetldasw eaacsdgarr vraagslpsa
      181 elssnscspg cgpevpptpp gshsaftssf sfirlslgsa gergeaegcp psreaeshcq
      241 spqemgakaa sldgphedpr clsrpfslla trvsadlaqa arnssrperd mhslpdmdpg
      301 ssssldpsla gcggdgssgs gdahswdtll rkwepvlrdc llrnrrqmev islrlklqkl
      361 qedavenddy dkaetlqqrl edleqekisl hfqlpsrqpa lssflghlaa qvqaalrrga
      421 tqq
//
LOCUS       NP_001353185             110 aa            linear   PRI 18-DEC-2022
DEFINITION  protein archease isoform 5 [Homo sapiens].
ACCESSION   NP_001353185 XP_011539640
VERSION     NP_001353185.1
DBSOURCE    REFSEQ: accession NM_001366256.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 110)
  AUTHORS   Mason CC, Khorashad JS, Tantravahi SK, Kelley TW, Zabriskie MS, Yan
            D, Pomicter AD, Reynolds KR, Eiring AM, Kronenberg Z, Sherman RL,
            Tyner JW, Dalley BK, Dao KH, Yandell M, Druker BJ, Gotlib J, O'Hare
            T and Deininger MW.
  TITLE     Age-related mutations and chronic myelomonocytic leukemia
  JOURNAL   Leukemia 30 (4), 906-913 (2016)
   PUBMED   26648538
  REMARK    GeneRIF: ARCH mutation is associated with chronic myelomonocytic
            leukemia.
REFERENCE   2  (residues 1 to 110)
  AUTHORS   Jurkin J, Henkel T, Nielsen AF, Minnich M, Popow J, Kaufmann T,
            Heindl K, Hoffmann T, Busslinger M and Martinez J.
  TITLE     The mammalian tRNA ligase complex mediates splicing of XBP1 mRNA
            and controls antibody secretion in plasma cells
  JOURNAL   EMBO J 33 (24), 2922-2936 (2014)
   PUBMED   25378478
  REMARK    GeneRIF: RTCB, the catalytic subunit of the tRNA ligase complex,
            and its co-factor archease mediate XBP1 mRNA splicing both in vitro
            and in vivo.
REFERENCE   3  (residues 1 to 110)
  AUTHORS   Popow J, Jurkin J, Schleiffer A and Martinez J.
  TITLE     Analysis of orthologous groups reveals archease and DDX1 as tRNA
            splicing factors
  JOURNAL   Nature 511 (7507), 104-107 (2014)
   PUBMED   24870230
  REMARK    GeneRIF: archease (also called ZBTB8OS), a protein of unknown
            function, is required for full activity of the human tRNA ligase
            complex and, in cooperation with DDX1, facilitates the formation of
            an RTCB-guanylate intermediate central to mammalian RNA ligation
REFERENCE   4  (residues 1 to 110)
  AUTHORS   Popow J, Englert M, Weitzer S, Schleiffer A, Mierzwa B, Mechtler K,
            Trowitzsch S, Will CL, Luhrmann R, Soll D and Martinez J.
  TITLE     HSPC117 is the essential subunit of a human tRNA splicing ligase
            complex
  JOURNAL   Science 331 (6018), 760-764 (2011)
   PUBMED   21311021
REFERENCE   5  (residues 1 to 110)
  AUTHORS   Kim JM, Lee KH, Jeon YJ, Oh JH, Jeong SY, Song IS, Kim JM, Lee DS
            and Kim NS.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
REFERENCE   6  (residues 1 to 110)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC114489.2 and AL033529.25.
            On Sep 27, 2018 this sequence version replaced XP_011539640.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.486858.1,
                                           DRR138517.316492.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..110
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.1"
     Protein         1..110
                     /product="protein archease isoform 5"
                     /note="protein archease; archease-like protein; archease
                     (ARCH); zinc finger and BTB domain-containing opposite
                     strand protein 8"
                     /calculated_mol_wt=12646
     Region          1..110
                     /region_name="Archease"
                     /note="Archease protein family (MTH1598/TM1083);
                     pfam01951"
                     /db_xref="CDD:426527"
     CDS             1..110
                     /gene="ZBTB8OS"
                     /gene_synonym="ARCH; ARCH2"
                     /coded_by="NM_001366256.1:550..882"
                     /note="isoform 5 is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS76134.1"
                     /db_xref="GeneID:339487"
                     /db_xref="HGNC:HGNC:24094"
                     /db_xref="MIM:615891"
ORIGIN      
        1 mamfgymtdt gtveplqtve vetqgddlqs llfhfldewl ykfsadeffi prevkvlsid
       61 qrnfklrsig wgeefslskh pqgtevkait ysamqvynee npevfviidi
//
LOCUS       NP_001146918             122 aa            linear   PRI 21-DEC-2022
DEFINITION  short coiled-coil protein isoform 4 [Homo sapiens].
ACCESSION   NP_001146918
VERSION     NP_001146918.1
DBSOURCE    REFSEQ: accession NM_001153446.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 122)
  AUTHORS   Wirth M, Mouilleron S, Zhang W, Sjottem E, Princely Abudu Y, Jain
            A, Lauritz Olsvik H, Bruun JA, Razi M, Jefferies HBJ, Lee R, Joshi
            D, O'Reilly N, Johansen T and Tooze SA.
  TITLE     Phosphorylation of the LIR Domain of SCOC Modulates ATG8 Binding
            Affinity and Specificity
  JOURNAL   J Mol Biol 433 (13), 166987 (2021)
   PUBMED   33845085
  REMARK    GeneRIF: Phosphorylation of the LIR Domain of SCOC Modulates ATG8
            Binding Affinity and Specificity.
            Erratum:[J Mol Biol. 2021 May 26;:167049. PMID: 34052024]
REFERENCE   2  (residues 1 to 122)
  AUTHORS   Stringer S, Minica CC, Verweij KJ, Mbarek H, Bernard M, Derringer
            J, van Eijk KR, Isen JD, Loukola A, Maciejewski DF, Mihailov E, van
            der Most PJ, Sanchez-Mora C, Roos L, Sherva R, Walters R, Ware JJ,
            Abdellaoui A, Bigdeli TB, Branje SJ, Brown SA, Bruinenberg M, Casas
            M, Esko T, Garcia-Martinez I, Gordon SD, Harris JM, Hartman CA,
            Henders AK, Heath AC, Hickie IB, Hickman M, Hopfer CJ, Hottenga JJ,
            Huizink AC, Irons DE, Kahn RS, Korhonen T, Kranzler HR, Krauter K,
            van Lier PA, Lubke GH, Madden PA, Magi R, McGue MK, Medland SE,
            Meeus WH, Miller MB, Montgomery GW, Nivard MG, Nolte IM, Oldehinkel
            AJ, Pausova Z, Qaiser B, Quaye L, Ramos-Quiroga JA, Richarte V,
            Rose RJ, Shin J, Stallings MC, Stiby AI, Wall TL, Wright MJ, Koot
            HM, Paus T, Hewitt JK, Ribases M, Kaprio J, Boks MP, Snieder H,
            Spector T, Munafo MR, Metspalu A, Gelernter J, Boomsma DI, Iacono
            WG, Martin NG, Gillespie NA, Derks EM and Vink JM.
  TITLE     Genome-wide association study of lifetime cannabis use based on a
            large meta-analytic sample of 32 330 subjects from the
            International Cannabis Consortium
  JOURNAL   Transl Psychiatry 6 (3), e769 (2016)
   PUBMED   27023175
  REMARK    GeneRIF: SCOC SNPs were associated with lifetime cannabis use, but
            the association did not reach genome-wide significance.
            [Meta-Analysis]
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 122)
  AUTHORS   Alborghetti MR, Furlan Ada S, da Silva JC, Sforca ML, Honorato RV,
            Granato DC, dos Santos Migueleti DL, Neves JL, de Oliveira PS,
            Paes-Leme AF, Zeri AC, de Torriani IC and Kobarg J.
  TITLE     Structural analysis of intermolecular interactions in the kinesin
            adaptor complex fasciculation and elongation protein zeta 1/ short
            coiled-coil protein (FEZ1/SCOCO)
  JOURNAL   PLoS One 8 (10), e76602 (2013)
   PUBMED   24116125
  REMARK    GeneRIF: Studies indicate that FEZ1 (fasciculation and elongation
            protein zeta 1), SCOCO (short coiled-coil protein) and kinesins
            (kinesin heavy chain) are involved in biological transport process.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 122)
  AUTHORS   Behrens C, Binotti B, Schmidt C, Robinson CV, Chua JJ and Kuhnel K.
  TITLE     Crystal structure of the human short coiled coil protein and
            insights into SCOC-FEZ1 complex formation
  JOURNAL   PLoS One 8 (10), e76355 (2013)
   PUBMED   24098481
  REMARK    GeneRIF: SCOC forms a stable homogeneous complex with the coiled
            coil domain of FEZ1. SCOC dimerization and the SCOC surface residue
            R117 are important for this interaction.
            Erratum:[PLoS One. 2013;8(10).
            doi:10.1371/annotation/cb60d973-58aa-45e0-bbb3-1c7f5a42a8d2]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 122)
  AUTHORS   McKnight NC, Jefferies HB, Alemu EA, Saunders RE, Howell M,
            Johansen T and Tooze SA.
  TITLE     Genome-wide siRNA screen reveals amino acid starvation-induced
            autophagy requires SCOC and WAC
  JOURNAL   EMBO J 31 (8), 1931-1946 (2012)
   PUBMED   22354037
  REMARK    GeneRIF: The identification of SCOC and WAC as novel regulatory
            proteins with diverse functions in autophagy contributes towards a
            fuller understanding of autophagosome formation.
REFERENCE   6  (residues 1 to 122)
  AUTHORS   Miyamoto-Sato E, Fujimori S, Ishizaka M, Hirai N, Masuoka K, Saito
            R, Ozawa Y, Hino K, Washio T, Tomita M, Yamashita T, Oshikubo T,
            Akasaka H, Sugiyama J, Matsumoto Y and Yanagawa H.
  TITLE     A comprehensive resource of interacting protein regions for
            refining human transcription factor networks
  JOURNAL   PLoS One 5 (2), e9289 (2010)
   PUBMED   20195357
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 122)
  AUTHORS   Van Valkenburgh H, Shern JF, Sharer JD, Zhu X and Kahn RA.
  TITLE     ADP-ribosylation factors (ARFs) and ARF-like 1 (ARL1) have both
            specific and shared effectors: characterizing ARL1-binding proteins
  JOURNAL   J Biol Chem 276 (25), 22826-22837 (2001)
   PUBMED   11303027
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB204055.1, AF448857.1 and
            AA213765.1.
            
            Summary: This gene encodes a short coiled-coiled domain-containing
            protein that localizes to the Golgi apparatus. The encoded protein
            interacts with ADP-ribosylation factor-like proteins. Pseudogenes
            of this gene are found on chromosomes 1 and 14. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Apr 2009].
            
            Transcript Variant: This variant (6) differs in the 5' UTR and 5'
            coding region, compared to variant 1, resulting in an isoform (4)
            with a distinct and shorter N-terminus, compared to isoform 1.
            Variants 4, 5 and 6 encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DB204055.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..122
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.1"
     Protein         1..122
                     /product="short coiled-coil protein isoform 4"
                     /calculated_mol_wt=13797
     Region          53..113
                     /region_name="DUF2205"
                     /note="Predicted coiled-coil protein (DUF2205); pfam10224"
                     /db_xref="CDD:431150"
     CDS             1..122
                     /gene="SCOC"
                     /gene_synonym="HRIHFB2072; SCOCO; UNC-69"
                     /coded_by="NM_001153446.1:46..414"
                     /note="isoform 4 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS3750.1"
                     /db_xref="GeneID:60592"
                     /db_xref="HGNC:HGNC:20335"
ORIGIN      
        1 mdgsrkeeee dstftnisla ddidhssril yprpksllpk mmnadmdavd aenqveleek
       61 trlinqvlel qhtledlsar vdavkeenlk lksenqvlgq yienlmsass vfqttdtksk
      121 rk
//
LOCUS       NP_001307563             385 aa            linear   PRI 22-DEC-2022
DEFINITION  myc box-dependent-interacting protein 1 isoform 16 [Homo sapiens].
ACCESSION   NP_001307563 XP_005263705
VERSION     NP_001307563.1
DBSOURCE    REFSEQ: accession NM_001320634.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 385)
  AUTHORS   Mehta K, Mohebbi M, Pasco JA, Williams LJ, Walder K, Ng BL and
            Gupta VB.
  TITLE     Genetic polymorphism in BIN1 rather than APOE is associated with
            poor recognition memory among men without dementia
  JOURNAL   Sci Rep 12 (1), 17802 (2022)
   PUBMED   36280690
  REMARK    GeneRIF: Genetic polymorphism in BIN1 rather than APOE is
            associated with poor recognition memory among men without dementia.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 385)
  AUTHORS   Sudwarts A, Ramesha S, Gao T, Ponnusamy M, Wang S, Hansen M,
            Kozlova A, Bitarafan S, Kumar P, Beaulieu-Abdelahad D, Zhang X,
            Collier L, Szekeres C, Wood LB, Duan J, Thinakaran G and Rangaraju
            S.
  TITLE     BIN1 is a key regulator of proinflammatory and
            neurodegeneration-related activation in microglia
  JOURNAL   Mol Neurodegener 17 (1), 33 (2022)
   PUBMED   35526014
  REMARK    GeneRIF: BIN1 is a key regulator of proinflammatory and
            neurodegeneration-related activation in microglia.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 385)
  AUTHORS   Martinez-Iglesias O, Naidoo V, Carrera I and Cacabelos R.
  TITLE     Epigenetic Studies in the Male APP/BIN1/COPS5 Triple-Transgenic
            Mouse Model of Alzheimer's Disease
  JOURNAL   Int J Mol Sci 23 (5), 2446 (2022)
   PUBMED   35269588
  REMARK    GeneRIF: Epigenetic Studies in the Male APP/BIN1/COPS5
            Triple-Transgenic Mouse Model of Alzheimer's Disease.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 385)
  AUTHORS   Heal M, McFall GP, Vergote D, Jhamandas JH, Westaway D and Dixon
            RA.
  TITLE     Bridging Integrator 1 (BIN1, rs6733839) and Sex Are Moderators of
            Vascular Health Predictions of Memory Aging Trajectories
  JOURNAL   J Alzheimers Dis 89 (1), 265-281 (2022)
   PUBMED   35871342
  REMARK    GeneRIF: Bridging Integrator 1 (BIN1, rs6733839) and Sex Are
            Moderators of Vascular Health Predictions of Memory Aging
            Trajectories.
REFERENCE   5  (residues 1 to 385)
  AUTHORS   Abdul Aziz M, Md Ashraf G and Safiqul Islam M.
  TITLE     Link of BIN1, CLU, and IDE Gene Polymorphisms with the
            Susceptibility of Alzheimer's Disease: Evidence from a
            Meta-analysis
  JOURNAL   Curr Alzheimer Res 19 (4), 302-316 (2022)
   PUBMED   35546756
  REMARK    GeneRIF: Link of BIN1, CLU, and IDE Gene Polymorphisms with the
            Susceptibility of Alzheimer's Disease: Evidence from a
            Meta-analysis.
REFERENCE   6  (residues 1 to 385)
  AUTHORS   Ramjaun AR, Micheva KD, Bouchelet I and McPherson PS.
  TITLE     Identification and characterization of a nerve terminal-enriched
            amphiphysin isoform
  JOURNAL   J Biol Chem 272 (26), 16700-16706 (1997)
   PUBMED   9195986
REFERENCE   7  (residues 1 to 385)
  AUTHORS   Butler MH, David C, Ochoa GC, Freyberg Z, Daniell L, Grabs D,
            Cremona O and De Camilli P.
  TITLE     Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs
            family, is concentrated in the cortical cytomatrix of axon initial
            segments and nodes of ranvier in brain and around T tubules in
            skeletal muscle
  JOURNAL   J Cell Biol 137 (6), 1355-1367 (1997)
   PUBMED   9182667
REFERENCE   8  (residues 1 to 385)
  AUTHORS   Leprince C, Romero F, Cussac D, Vayssiere B, Berger R, Tavitian A
            and Camonis JH.
  TITLE     A new member of the amphiphysin family connecting endocytosis and
            signal transduction pathways
  JOURNAL   J Biol Chem 272 (24), 15101-15105 (1997)
   PUBMED   9182529
REFERENCE   9  (residues 1 to 385)
  AUTHORS   Sakamuro D, Elliott KJ, Wechsler-Reya R and Prendergast GC.
  TITLE     BIN1 is a novel MYC-interacting protein with features of a tumour
            suppressor
  JOURNAL   Nat Genet 14 (1), 69-77 (1996)
   PUBMED   8782822
  REMARK    GeneRIF: A nucleocytosolic myc-interacting isoform of Bin1 has
            properties of a tumor suppressor.
REFERENCE   10 (residues 1 to 385)
  AUTHORS   Negorev D, Riethman H, Wechsler-Reya R, Sakamuro D, Prendergast GC
            and Simon D.
  TITLE     The Bin1 gene localizes to human chromosome 2q14 by PCR analysis of
            somatic cell hybrids and fluorescence in situ hybridization
  JOURNAL   Genomics 33 (2), 329-331 (1996)
   PUBMED   8725406
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK301153.1, AC012508.10,
            BC004101.2 and BM711160.1.
            On Mar 2, 2016 this sequence version replaced XP_005263705.1.
            
            Summary: This gene encodes several isoforms of a nucleocytoplasmic
            adaptor protein, one of which was initially identified as a
            MYC-interacting protein with features of a tumor suppressor.
            Isoforms that are expressed in the central nervous system may be
            involved in synaptic vesicle endocytosis and may interact with
            dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are
            expressed in muscle and ubiquitously expressed isoforms localize to
            the cytoplasm and nucleus and activate a caspase-independent
            apoptotic process. Studies in mouse suggest that this gene plays an
            important role in cardiac muscle development. Alternate splicing of
            the gene results in several transcript variants encoding different
            isoforms. Aberrant splice variants expressed in tumor cell lines
            have also been described. [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (16) differs in the 5' UTR and
            coding sequence and lacks six alternate in-frame exons compared to
            variant 1. The resulting isoform (16) is shorter and has a distinct
            N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK301153.1, SRR7410570.207612.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..385
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.3"
     Protein         1..385
                     /product="myc box-dependent-interacting protein 1 isoform
                     16"
                     /note="amphiphysin II; box dependant MYC interacting
                     protein 1; amphiphysin-like protein; box-dependent
                     myc-interacting protein 1"
                     /calculated_mol_wt=43034
     Region          7..217
                     /region_name="BAR_Amphiphysin_I_II"
                     /note="The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin
                     I and II; cd07611"
                     /db_xref="CDD:153295"
     Site            order(26,29..30,34,37,40..41,44,54..55,57..58,61..62,
                     64..65,68,76,173,176..177,179,184..185,187..188,191..192,
                     194..195,198..199,201..202,206,209)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153295"
     Site            order(49,56,115,118,121..122,146)
                     /site_type="other"
                     /note="putative membrane interaction site"
                     /db_xref="CDD:153295"
     Region          313..384
                     /region_name="SH3_Bin1"
                     /note="Src Homology 3 domain of Bridging integrator 1
                     (Bin1), also called Amphiphysin-2; cd12139"
                     /db_xref="CDD:213015"
     Site            order(324..330,349,351..354,377,379..380)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:213015"
     CDS             1..385
                     /gene="BIN1"
                     /gene_synonym="AMPH2; AMPHL; CNM2; SH3P9"
                     /coded_by="NM_001320634.1:223..1380"
                     /note="isoform 16 is encoded by transcript variant 16"
                     /db_xref="GeneID:274"
                     /db_xref="HGNC:HGNC:1052"
                     /db_xref="MIM:601248"
ORIGIN      
        1 mmrkvlqklg kadetkdeqf eqcvqnfnkq ltegtrlqkd lrtylasvka mheaskklne
       61 clqevyepdw pgrdeankia enndllwmdy hqklvdqall tmdtylgqfp diksriakrg
      121 rklvdydsar hhyeslqtak kkdeakiaka eeelikaqkv feemnvdlqe elpslwnsrv
      181 gfyvntfqsi agleenfhke msklnqnlnd vlvglekqhg sntftvkaqp sdnapakgnk
      241 spsppdgspa atpeirvnhe pepaggatpg atlpkspsqs slpavvvetf patvngtveg
      301 gsgagrldlp pgfmfkvqaq hdytatdtde lqlkagdvvl vipfqnpeeq degwlmgvke
      361 sdwnqhkele kcrgvfpenf tervp
//
LOCUS       NP_001020461             116 aa            linear   PRI 24-DEC-2022
DEFINITION  developmental pluripotency-associated 5 protein [Homo sapiens].
ACCESSION   NP_001020461 XP_291161
VERSION     NP_001020461.1
DBSOURCE    REFSEQ: accession NM_001025290.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 116)
  AUTHORS   Taei A, Kiani T, Taghizadeh Z, Moradi S, Samadian A, Mollamohammadi
            S, Sharifi-Zarchi A, Guenther S, Akhlaghpour A, Asgari Abibeiglou
            B, Najar-Asl M, Karamzadeh R, Khalooghi K, Braun T, Hassani SN and
            Baharvand H.
  TITLE     Temporal activation of LRH-1 and RAR-gamma in human pluripotent
            stem cells induces a functional naive-like state
  JOURNAL   EMBO Rep 21 (10), e47533 (2020)
   PUBMED   33252195
REFERENCE   2  (residues 1 to 116)
  AUTHORS   Qian X, Kim JK, Tong W, Villa-Diaz LG and Krebsbach PH.
  TITLE     DPPA5 Supports Pluripotency and Reprogramming by Regulating NANOG
            Turnover
  JOURNAL   Stem Cells 34 (3), 588-600 (2016)
   PUBMED   26661329
  REMARK    GeneRIF: Our study provides new insight into the function of DPPA5
            and NANOG regulation in human pluripotent stem cell .
REFERENCE   3  (residues 1 to 116)
  AUTHORS   Aoki T, Ohnishi H, Oda Y, Tadokoro M, Sasao M, Kato H, Hattori K
            and Ohgushi H.
  TITLE     Generation of induced pluripotent stem cells from human
            adipose-derived stem cells without c-MYC
  JOURNAL   Tissue Eng Part A 16 (7), 2197-2206 (2010)
   PUBMED   20146561
REFERENCE   4  (residues 1 to 116)
  AUTHORS   Tian X, Pascal G, Fouchecourt S, Pontarotti P and Monget P.
  TITLE     Gene birth, death, and divergence: the different scenarios of
            reproduction-related gene evolution
  JOURNAL   Biol Reprod 80 (4), 616-621 (2009)
   PUBMED   19129511
  REMARK    Review article
REFERENCE   5  (residues 1 to 116)
  AUTHORS   Dansranjavin T, Krehl S, Mueller T, Mueller LP, Schmoll HJ and
            Dammann RH.
  TITLE     The role of promoter CpG methylation in the epigenetic control of
            stem cell related genes during differentiation
  JOURNAL   Cell Cycle 8 (6), 916-924 (2009)
   PUBMED   19221495
REFERENCE   6  (residues 1 to 116)
  AUTHORS   Pierre A, Gautier M, Callebaut I, Bontoux M, Jeanpierre E,
            Pontarotti P and Monget P.
  TITLE     Atypical structure and phylogenomic evolution of the new eutherian
            oocyte- and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family
  JOURNAL   Genomics 90 (5), 583-594 (2007)
   PUBMED   17913455
REFERENCE   7  (residues 1 to 116)
  AUTHORS   Lagarkova MA, Volchkov PY, Lyakisheva AV, Philonenko ES and Kiselev
            SL.
  TITLE     Diverse epigenetic profile of novel human embryonic stem cell lines
  JOURNAL   Cell Cycle 5 (4), 416-420 (2006)
   PUBMED   16479162
REFERENCE   8  (residues 1 to 116)
  AUTHORS   Western P, Maldonado-Saldivia J, van den Bergen J, Hajkova P,
            Saitou M, Barton S and Surani MA.
  TITLE     Analysis of Esg1 expression in pluripotent cells and the germline
            reveals similarities with Oct4 and Sox2 and differences between
            human pluripotent cell lines
  JOURNAL   Stem Cells 23 (10), 1436-1442 (2005)
   PUBMED   16166252
REFERENCE   9  (residues 1 to 116)
  AUTHORS   Adjaye J, Huntriss J, Herwig R, BenKahla A, Brink TC, Wierling C,
            Hultschig C, Groth D, Yaspo ML, Picton HM, Gosden RG and Lehrach H.
  TITLE     Primary differentiation in the human blastocyst: comparative
            molecular portraits of inner cell mass and trophectoderm cells
  JOURNAL   Stem Cells 23 (10), 1514-1525 (2005)
   PUBMED   16081659
REFERENCE   10 (residues 1 to 116)
  AUTHORS   Kim SK, Suh MR, Yoon HS, Lee JB, Oh SK, Moon SY, Moon SH, Lee JY,
            Hwang JH, Cho WJ and Kim KS.
  TITLE     Identification of developmental pluripotency associated 5
            expression in human pluripotent stem cells
  JOURNAL   Stem Cells 23 (4), 458-462 (2005)
   PUBMED   15790765
  REMARK    GeneRIF: Dppa5 is specifically and differentially expressed in
            human cells that have pluripotency and can be used as a marker of
            pluripotent stem cells.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC137549.1 and AI365263.1.
            On Jul 13, 2005 this sequence version replaced XP_291161.1.
            
            Summary: This gene encodes a protein that may function in the
            control of cell pluripotency and early embryogenesis. Expression of
            this gene is a specific marker for pluripotent stem cells.
            Pseudogenes of this gene are located on the short arm of chromosome
            10 and the long arm of chromosomes 14 and 19. [provided by RefSeq,
            Dec 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX092581.1, BC137549.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370370.4/ ENSP00000359396.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..116
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q13"
     Protein         1..116
                     /product="developmental pluripotency-associated 5 protein"
                     /note="embryonal stem cell specific gene 1"
                     /calculated_mol_wt=13367
     Region          10..94
                     /region_name="MOEP19"
                     /note="KH-like RNA-binding domain; pfam16005"
                     /db_xref="CDD:435062"
     Site            order(35,43,45..47,50..52,75..76,79,83,86..87,90)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:240613"
     CDS             1..116
                     /gene="DPPA5"
                     /gene_synonym="ESG1"
                     /coded_by="NM_001025290.3:52..402"
                     /db_xref="CCDS:CCDS34483.1"
                     /db_xref="GeneID:340168"
                     /db_xref="HGNC:HGNC:19201"
                     /db_xref="MIM:611111"
ORIGIN      
        1 mgtlparrhi ppwvkvpedl kdpevfqvqt rllkaifgpd gsripyieqv skamlelkal
       61 essdltevvv ygsylyklrt kwmlqsmaew hrqrqergml klaeamnale lgpwmk
//
LOCUS       NP_001305858             191 aa            linear   PRI 26-DEC-2022
DEFINITION  ribulose-phosphate 3-epimerase isoform 9 [Homo sapiens].
ACCESSION   NP_001305858
VERSION     NP_001305858.1
DBSOURCE    REFSEQ: accession NM_001318929.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 191)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 191)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam
            S, MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 191)
  AUTHORS   Shin SY, Fauman EB, Petersen AK, Krumsiek J, Santos R, Huang J,
            Arnold M, Erte I, Forgetta V, Yang TP, Walter K, Menni C, Chen L,
            Vasquez L, Valdes AM, Hyde CL, Wang V, Ziemek D, Roberts P, Xi L,
            Grundberg E, Waldenberger M, Richards JB, Mohney RP, Milburn MV,
            John SL, Trimmer J, Theis FJ, Overington JP, Suhre K, Brosnan MJ,
            Gieger C, Kastenmuller G, Spector TD and Soranzo N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   4  (residues 1 to 191)
  AUTHORS   Liang W, Ouyang S, Shaw N, Joachimiak A, Zhang R and Liu ZJ.
  TITLE     Conversion of D-ribulose 5-phosphate to D-xylulose 5-phosphate: new
            insights from structural and biochemical studies on human RPE
  JOURNAL   FASEB J 25 (2), 497-504 (2011)
   PUBMED   20923965
  REMARK    GeneRIF: The binary complexes of RPE reported here will aid in the
            design of small molecules for modulating the activity of the enzyme
            and altering flux through the pentose phosphate pathway.
REFERENCE   5  (residues 1 to 191)
  AUTHORS   Stanchi F, Bertocco E, Toppo S, Dioguardi R, Simionati B, Cannata
            N, Zimbello R, Lanfranchi G and Valle G.
  TITLE     Characterization of 16 novel human genes showing high similarity to
            yeast sequences
  JOURNAL   Yeast 18 (1), 69-80 (2001)
   PUBMED   11124703
REFERENCE   6  (residues 1 to 191)
  AUTHORS   Miyazaki K, Yamanaka T and Ogasawara N.
  TITLE     Interstitial deletion 2q32.1----q34 in a child with half normal
            activity of ribulose 5-phosphate 3-epimerase (RPE)
  JOURNAL   J Med Genet 25 (12), 850-851 (1988)
   PUBMED   3236368
REFERENCE   7  (residues 1 to 191)
  AUTHORS   Dallapiccola B, Novelli G and Giannotti A.
  TITLE     Deletion 2q31.3----2q33.3: gene dosage effect of ribulose
            5-phosphate 3-epimerase
  JOURNAL   Hum Genet 79 (1), 92 (1988)
   PUBMED   3366467
REFERENCE   8  (residues 1 to 191)
  AUTHORS   Boss,G.R. and Pilz,R.B.
  TITLE     Phosphoribosylpyrophosphate synthesis from glucose decreases during
            amino acid starvation of human lymphoblasts
  JOURNAL   J Biol Chem 260 (10), 6054-6059 (1985)
   PUBMED   2581946
REFERENCE   9  (residues 1 to 191)
  AUTHORS   Spencer,N. and Hopkinson,D.A.
  TITLE     Biochemical genetics of the pentose phosphate cycle: human ribose
            5-phosphate isomerase (RPI) and ribulose 5-phosphate 3-epimerase
            (RPE)
  JOURNAL   Ann Hum Genet 43 (4), 335-342 (1980)
   PUBMED   7396409
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC403549.1, BG546879.1, AC007038.6, BC005148.2, AB075523.1 and
            AI222711.1.
            
            Transcript Variant: This variant (12) uses an alternate splice
            junction in the 3' end compared to variant 1, that causes a
            frameshift. The resulting isoform (9) has a shorter and distinct
            C-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.67042.1,
                                           SRR1803611.178437.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..191
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q34"
     Protein         1..191
                     /product="ribulose-phosphate 3-epimerase isoform 9"
                     /EC_number="5.1.3.1"
                     /note="ribulose-phosphate 3-epimerase"
                     /calculated_mol_wt=20841
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q96AT9.1)"
     Region          6..188
                     /region_name="RPE"
                     /note="Ribulose-5-phosphate 3-epimerase (RPE). This enzyme
                     catalyses the interconversion of D-ribulose 5-phosphate
                     (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin
                     cycle (reductive pentose phosphate pathway) in
                     chloroplasts and in the oxidative pentose...; cd00429"
                     /db_xref="CDD:238244"
     Site            order(10,12,37,72,145..146,148..149,175,177)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:238244"
     Site            order(17,20,40,42..43,45,47..50,75,79,100,102..103,121,
                     124,126,130,144,153,155,159)
                     /site_type="other"
                     /note="hexamer interface [polypeptide binding]"
                     /db_xref="CDD:238244"
     Site            order(35,37,70,175)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:238244"
     CDS             1..191
                     /gene="RPE"
                     /gene_synonym="RPE2-1"
                     /coded_by="NM_001318929.2:25..600"
                     /note="isoform 9 is encoded by transcript variant 12"
                     /db_xref="CCDS:CCDS82568.1"
                     /db_xref="GeneID:6120"
                     /db_xref="HGNC:HGNC:10293"
                     /db_xref="MIM:180480"
ORIGIN      
        1 masgckigps ilnsdlanlg aeclrmldsg adylhldvmd ghfvpnitfg hpvveslrkq
       61 lgqdpffdmh mmvskpeqwv kpmavaganq ytfhleaten pgalikdire ngmkvglaik
      121 pgtsveylap wanqidmalv mtvepgfggq kfmedmmpkv hwlrtqfpsl dievdggvgp
      181 dtvhkcaeel t
//
LOCUS       NP_653206                358 aa            linear   PRI 27-DEC-2022
DEFINITION  septin-12 isoform 2 [Homo sapiens].
ACCESSION   NP_653206
VERSION     NP_653206.2
DBSOURCE    REFSEQ: accession NM_144605.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 358)
  AUTHORS   Ozkara G and Ersoy Tunali N.
  TITLE     SEPTIN12 c.474 G > A polymorphism as a risk factor in
            teratozoospermic patients
  JOURNAL   Mol Biol Rep 48 (5), 4073-4081 (2021)
   PUBMED   34057684
  REMARK    GeneRIF: SEPTIN12 c.474 G > A polymorphism as a risk factor in
            teratozoospermic patients.
REFERENCE   2  (residues 1 to 358)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 358)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 358)
  AUTHORS   Rafaee A, Mohseni Meybodi A, Yaghmaei P, Hosseini SH and Sabbaghian
            M.
  TITLE     Single-nucleotide polymorphism c.474G>A in the SEPT12 gene is a
            predisposing factor in male infertility
  JOURNAL   Mol Reprod Dev 87 (2), 251-259 (2020)
   PUBMED   31880374
  REMARK    GeneRIF: Single-nucleotide polymorphism c.474G>A in the SEPT12 gene
            is a predisposing factor in male infertility.
REFERENCE   5  (residues 1 to 358)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 358)
  AUTHORS   Lin YH, Lin YM, Wang YY, Yu IS, Lin YW, Wang YH, Wu CM, Pan HA,
            Chao SC, Yen PH, Lin SW and Kuo PL.
  TITLE     The expression level of septin12 is critical for spermiogenesis
  JOURNAL   Am J Pathol 174 (5), 1857-1868 (2009)
   PUBMED   19359518
  REMARK    GeneRIF: Decreases in SEPTIN12 expression is associated with male
            infertility.
REFERENCE   7  (residues 1 to 358)
  AUTHORS   Ding X, Yu W, Liu M, Shen S, Chen F, Cao L, Wan B and Yu L.
  TITLE     GTP binding is required for SEPT12 to form filaments and to
            interact with SEPT11
  JOURNAL   Mol Cells 25 (3), 385-389 (2008)
   PUBMED   18443421
REFERENCE   8  (residues 1 to 358)
  AUTHORS   Ding X, Yu W, Liu M, Shen S, Chen F, Wan B and Yu L.
  TITLE     SEPT12 interacts with SEPT6 and this interaction alters the
            filament structure of SEPT6 in Hela cells
  JOURNAL   J Biochem Mol Biol 40 (6), 973-978 (2007)
   PUBMED   18047794
  REMARK    GeneRIF: While SEPT12 formed filamentous structures at interphase,
            it was localized to the central spindle and to midbody during
            anaphase and cytokinesis, respectively.
REFERENCE   9  (residues 1 to 358)
  AUTHORS   Hall PA, Jung K, Hillan KJ and Russell SE.
  TITLE     Expression profiling the human septin gene family
  JOURNAL   J Pathol 206 (3), 269-278 (2005)
   PUBMED   15915442
REFERENCE   10 (residues 1 to 358)
  AUTHORS   Kinoshita M.
  TITLE     The septins
  JOURNAL   Genome Biol 4 (11), 236 (2003)
   PUBMED   14611653
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from EF620906.1 and AC020663.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 10, 2009 this sequence version replaced NP_653206.1.
            
            Summary: This gene encodes a guanine-nucleotide binding protein and
            member of the septin family of cytoskeletal GTPases. Septins play
            important roles in cytokinesis, exocytosis, embryonic development,
            and membrane dynamics. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2011].
            
            Transcript Variant: This variant (2) contains an alternate exon in
            the coding region compared to variant 1. The encoded isoform (2) is
            longer but has the identical N- and C-termini compared to isoform
            1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EF620906.1, DQ517531.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968832,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000268231.13/ ENSP00000268231.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..358
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..358
                     /product="septin-12 isoform 2"
                     /note="testicular tissue protein Li 168"
                     /calculated_mol_wt=40617
     Region          1..25
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYM1.1)"
     Region          46..319
                     /region_name="Interaction with SEPTIN7.
                     /evidence=ECO:0000269|PubMed:25588830"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYM1.1)"
     Region          46..317
                     /region_name="CDC_Septin"
                     /note="CDC/Septin GTPase family; cd01850"
                     /db_xref="CDD:206649"
     Region          56..63
                     /region_name="G1 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01056"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYM1.1)"
     Site            56..63
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206649"
     Site            order(58..64,112,115,194..195,197,251..252)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206649"
     Site            87..95
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206649"
     Site            89
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206649"
     Region          112..115
                     /region_name="G3 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01056"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYM1.1)"
     Site            112..115
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206649"
     Site            114..160
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206649"
     Region          194..197
                     /region_name="G4 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01056"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYM1.1)"
     Site            194..197
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206649"
     Site            251..253
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206649"
     Region          258..358
                     /region_name="Self-association (via N-terminus) to
                     polymerize octomeric septin 12-7-6-2/4-2/4-6-7-12
                     filaments"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYM1.1)"
     CDS             1..358
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
                     /coded_by="NM_144605.5:89..1165"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS10522.1"
                     /db_xref="GeneID:124404"
                     /db_xref="HGNC:HGNC:26348"
                     /db_xref="MIM:611562"
ORIGIN      
        1 mdplrrspsp clssqpssps tppcemlgpv gieavldqlk ikamkmgfef nimvvgqsgl
       61 gkstmvntlf kskvwksnpp glgvptpqtl qlhslthvie ekgvklkltv tdtpgfgdqi
      121 nndncwdpil gyineqyeqy lqeeilitrq rhipdtrvhc cvyfvpptgh clrpldiefl
      181 qrlcrtvnvv pviaradslt meereafrrr iqqnlrthci dvypqmcfde dindkilnsk
      241 lrdripfavv gadqehlvng rcvlgrktkw giievenmah cefpllrdll irshlqdlkd
      301 ithnihyeny rvirlneshl lprgpgwvnl apaspgqltt prtfkvcrga hddsddef
//
LOCUS       NP_001269619             786 aa            linear   PRI 04-MAR-2023
DEFINITION  selenocysteine insertion sequence-binding protein 2 isoform 4 [Homo
            sapiens].
ACCESSION   NP_001269619 XP_005252254
VERSION     NP_001269619.1
DBSOURCE    REFSEQ: accession NM_001282690.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 786)
  AUTHORS   Schoenmakers E and Chatterjee K.
  TITLE     Human Genetic Disorders Resulting in Systemic Selenoprotein
            Deficiency
  JOURNAL   Int J Mol Sci 22 (23), 12927 (2021)
   PUBMED   34884733
  REMARK    GeneRIF: Human Genetic Disorders Resulting in Systemic
            Selenoprotein Deficiency.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 786)
  AUTHORS   Taguchi T, Kurata M, Onishi I, Kinowaki Y, Sato Y, Shiono S,
            Ishibashi S, Ikeda M, Yamamoto M, Kitagawa M and Yamamoto K.
  TITLE     SECISBP2 is a novel prognostic predictor that regulates
            selenoproteins in diffuse large B-cell lymphoma
  JOURNAL   Lab Invest 101 (2), 218-227 (2021)
   PUBMED   33077808
  REMARK    GeneRIF: SECISBP2 is a novel prognostic predictor that regulates
            selenoproteins in diffuse large B-cell lymphoma.
REFERENCE   3  (residues 1 to 786)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 786)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 786)
  AUTHORS   Papp LV, Wang J, Kennedy D, Boucher D, Zhang Y, Gladyshev VN, Singh
            RN and Khanna KK.
  TITLE     Functional characterization of alternatively spliced human SECISBP2
            transcript variants
  JOURNAL   Nucleic Acids Res 36 (22), 7192-7206 (2008)
   PUBMED   19004874
  REMARK    GeneRIF: A report of a complex splicing pattern in the 5'-region of
            human SECISBP2, wherein at least eight splice variants encode five
            isoforms with varying N-terminal sequence.
REFERENCE   6  (residues 1 to 786)
  AUTHORS   Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA,
            Moeller LC, Boran G, Schomburg L, Weiss RE and Refetoff S.
  TITLE     Mutations in SECISBP2 result in abnormal thyroid hormone metabolism
  JOURNAL   Nat Genet 37 (11), 1247-1252 (2005)
   PUBMED   16228000
REFERENCE   7  (residues 1 to 786)
  AUTHORS   Allmang C, Carbon P and Krol A.
  TITLE     The SBP2 and 15.5 kD/Snu13p proteins share the same RNA binding
            domain: identification of SBP2 amino acids important to SECIS RNA
            binding
  JOURNAL   RNA 8 (10), 1308-1318 (2002)
   PUBMED   12403468
  REMARK    GeneRIF: In addition to identifying key amino acids for SECIS
            recognition by SBP2, our findings led to the proposal that some of
            the recognition principles governing the 15.5 kD-U4 snRNA
            interaction must be similar in the SBP2-SECIS RNA complex
REFERENCE   8  (residues 1 to 786)
  AUTHORS   Lescure A, Allmang C, Yamada K, Carbon P and Krol A.
  TITLE     cDNA cloning, expression pattern and RNA binding analysis of human
            selenocysteine insertion sequence (SECIS) binding protein 2
  JOURNAL   Gene 291 (1-2), 279-285 (2002)
   PUBMED   12095701
REFERENCE   9  (residues 1 to 786)
  AUTHORS   Low SC, Grundner-Culemann E, Harney JW and Berry MJ.
  TITLE     SECIS-SBP2 interactions dictate selenocysteine incorporation
            efficiency and selenoprotein hierarchy
  JOURNAL   EMBO J 19 (24), 6882-6890 (2000)
   PUBMED   11118223
REFERENCE   10 (residues 1 to 786)
  AUTHORS   Copeland PR, Fletcher JE, Carlson BA, Hatfield DL and Driscoll DM.
  TITLE     A novel RNA binding protein, SBP2, is required for the translation
            of mammalian selenoprotein mRNAs
  JOURNAL   EMBO J 19 (2), 306-314 (2000)
   PUBMED   10637234
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL160054.14, AK299161.1,
            BX000356.6, AL929575.24 and BG572344.1.
            On Sep 18, 2013 this sequence version replaced XP_005252254.1.
            
            Summary: The protein encoded by this gene is one of the essential
            components of the machinery involved in co-translational insertion
            of selenocysteine (Sec) into selenoproteins. Sec is encoded by the
            UGA codon, which normally signals translation termination. The
            recoding of UGA as Sec codon requires a Sec insertion sequence
            (SECIS) element; present in the 3' untranslated regions of
            eukaryotic selenoprotein mRNAs. This protein specifically binds to
            the SECIS element, which is stimulated by a Sec-specific
            translation elongation factor. Mutations in this gene have been
            associated with reduction in enzymatic activity of type II
            iodothyronine deiodinase (a selenoprotein) and abnormal thyroid
            hormone metabolism. Alternatively spliced transcript variants have
            been found for this gene. [provided by RefSeq, Aug 2017].
            
            Transcript Variant: This variant (4) contains an alternate 5'
            terminal exon, which results in translation initiation from an
            in-frame downstream start codon compared to variant 1. The encoded
            isoform (4) has a shorter N-terminus compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK299161.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..786
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.2"
     Protein         1..786
                     /product="selenocysteine insertion sequence-binding
                     protein 2 isoform 4"
                     /note="selenocysteine insertion sequence-binding protein
                     2; Sec insertion sequence-binding protein 2"
                     /calculated_mol_wt=87854
     Region          589..689
                     /region_name="Ribosomal_L7Ae"
                     /note="Ribosomal protein L7Ae/L30e/S12e/Gadd45 family;
                     pfam01248"
                     /db_xref="CDD:426153"
     CDS             1..786
                     /gene="SECISBP2"
                     /gene_synonym="SBP2; THMA1"
                     /coded_by="NM_001282690.1:386..2746"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS65077.1"
                     /db_xref="GeneID:79048"
                     /db_xref="HGNC:HGNC:30972"
                     /db_xref="MIM:607693"
ORIGIN      
        1 mafgastfpp qylsseitlh pyayspytld stqnvysvpg sqylynqpsc yrgfqtvkhr
       61 nentcplpqe mkalfkkkty dekktydqqk fdseradgti sseiksargs hhlsiyaens
      121 lksdgyhkrt drksriiakn vstskpefef ttldfpelqg aennmseiqk qpkwgpvhsv
      181 stdisllrev vkpaavlskg eivvknnpne svtanaatns psctrelswt pmgyvvrqtl
      241 stelsaapkn vtsminlkti assadpknvs ipssealssd psynkekhii hptqkskasq
      301 gsdleqneas rknkkkkeks tskyevltvq eppriedaee fpnlavaser rdrietpkfq
      361 skqqpqdnfk nnvkksqlpv qldlggmlta lekkqhsqha kqsskpvvvs vgavpvlske
      421 casgergrrm sqmktphnpl dssaplmkkg kqreipkakk ptslkkiilk erqerkqrlq
      481 enavspafts ddtqdgesgg ddqfpeqael sgpegmdeli stpsvedkse eppgtelqrd
      541 teashlapnh ttfpkihsrr frdycsqmls kevdacvtdl lkelvrfqdr myqkdpvkak
      601 tkrrlvlglr evlkhlklkk lkcviispnc ekiqskggld dtlhtiidya ceqnipfvfa
      661 lnrkalgrsl nkavpvsvvg ifsydgaqdq fhkmveltva arqayktmle nvqqelvgep
      721 rpqappslpt qgpscpaedg ppalkekeep hyieiwkkhl eaysgctlel eesleastsq
      781 mmnlnl
//
LOCUS       NP_114404                433 aa            linear   PRI 14-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF26 [Homo sapiens].
ACCESSION   NP_114404
VERSION     NP_114404.1
DBSOURCE    REFSEQ: accession NM_032015.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 433)
  AUTHORS   Cremer T, Jongsma MLM, Trulsson F, Vertegaal ACO, Neefjes J and
            Berlin I.
  TITLE     The ER-embedded UBE2J1/RNF26 ubiquitylation complex exerts
            spatiotemporal control over the endolysosomal pathway
  JOURNAL   Cell Rep 34 (3), 108659 (2021)
   PUBMED   33472082
REFERENCE   2  (residues 1 to 433)
  AUTHORS   Jongsma ML, Berlin I, Wijdeven RH, Janssen L, Janssen GM, Garstka
            MA, Janssen H, Mensink M, van Veelen PA, Spaapen RM and Neefjes J.
  TITLE     An ER-Associated Pathway Defines Endosomal Architecture for
            Controlled Cargo Transport
  JOURNAL   Cell 166 (1), 152-166 (2016)
   PUBMED   27368102
  REMARK    GeneRIF: Study reveals the endoplasmic reticulum (ER)-located
            ubiquitin ligase Ring finger protein 26 (RNF26) as the global
            architect of the entire endosomal system, including the trans-Golgi
            network.
REFERENCE   3  (residues 1 to 433)
  AUTHORS   Qin Y, Zhou MT, Hu MM, Hu YH, Zhang J, Guo L, Zhong B and Shu HB.
  TITLE     RNF26 temporally regulates virus-triggered type I interferon
            induction by two distinct mechanisms
  JOURNAL   PLoS Pathog 10 (9), e1004358 (2014)
   PUBMED   25254379
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 433)
  AUTHORS   Zhang F, Baumer N, Rode M, Ji P, Zhang T, Berdel WE and
            Muller-Tidow C.
  TITLE     The inhibitor of growth protein 5 (ING5) depends on INCA1 as a
            co-factor for its antiproliferative effects
  JOURNAL   PLoS One 6 (7), e21505 (2011)
   PUBMED   21750715
REFERENCE   5  (residues 1 to 433)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   6  (residues 1 to 433)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 433)
  AUTHORS   Katoh M.
  TITLE     Molecular cloning and characterization of RNF26 on human chromosome
            11q23 region, encoding a novel RING finger protein with leucine
            zipper
  JOURNAL   Biochem Biophys Res Commun 282 (4), 1038-1044 (2001)
   PUBMED   11352657
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003396.1.
            
            Summary: The protein encoded by this intronless gene contains a
            C3HC5 type of RING finger, a motif known to be involved in
            protein-DNA and protein-protein interactions. The expression of
            this gene was found to be upregulated in cancer cell lines derived
            from different types of cancer. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript is intronless :: SRR7410570.492742.1,
                                        SRR3476690.1071667.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311413.5/ ENSP00000312439.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..433
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     Protein         1..433
                     /product="E3 ubiquitin-protein ligase RNF26"
                     /EC_number="2.3.2.27"
                     /note="ring finger protein with leucine zipper"
                     /calculated_mol_wt=47606
     Site            24..44
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BY78.1)"
     Site            60..80
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BY78.1)"
     Site            147..169
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BY78.1)"
     Site            183..203
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BY78.1)"
     Site            220..240
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BY78.1)"
     Region          373..432
                     /region_name="mRING-HC-C3HC5_RNF26"
                     /note="Modified RING finger, HC subclass (C3HC5-type),
                     found in RING finger protein 26 (RNF26) and similar
                     proteins; cd16788"
                     /db_xref="CDD:438442"
     CDS             1..433
                     /gene="RNF26"
                     /coded_by="NM_032015.5:597..1898"
                     /db_xref="CCDS:CCDS8419.1"
                     /db_xref="GeneID:79102"
                     /db_xref="HGNC:HGNC:14646"
                     /db_xref="MIM:606130"
ORIGIN      
        1 meavylvvng lglvldvltl vldlnfllvs sllaslawll afvynlphtv ltsllhlgrg
       61 vllsllalie avvrftcggl qalctllysc csgleslkll ghlashgalr sreilhrgvl
      121 nvvssghall rqacdicaia mslvayvins lvnicligtq nlfslvlalw davtgplwrm
      181 tdvvaaflah isssavamai llwtpcqlal ellasaarll asfvlvnltg lvllacvlav
      241 tvtvlhpdft lrlatqalsq lharpsyhrl redvmrlsrl algseawrrv wsrslqlasw
      301 pnrggapgap qgdpmrvfsv rtrrqdtlpe agrrseaeee eartirvtpv rgrerlneee
      361 ppggqdpwkl lkeqeerkkc vicqdqsktv lllpcrhlcl cqacteilmr hpvyhrncpl
      421 crrgilqtln vyl
//
LOCUS       NP_001340853             456 aa            linear   PRI 15-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 9 isoform 8 [Homo sapiens].
ACCESSION   NP_001340853
VERSION     NP_001340853.1
DBSOURCE    REFSEQ: accession NM_001353924.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 456)
  AUTHORS   Ma X, Yan W, Xu P, Ma L, Zan Y, Huang L, Wang G, Liu L and Hui W.
  TITLE     LncRNA-p21 suppresses cell proliferation and induces apoptosis in
            gastric cancer by sponging miR-514b-3p and up-regulating ARHGEF9
            expression
  JOURNAL   Biol Chem 403 (10), 945-958 (2022)
   PUBMED   35947460
  REMARK    GeneRIF: LncRNA-p21 suppresses cell proliferation and induces
            apoptosis in gastric cancer by sponging miR-514b-3p and
            up-regulating ARHGEF9 expression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 456)
  AUTHORS   Yang H, Liao H, Gan S, Xiao T and Wu L.
  TITLE     ARHGEF9 gene variant leads to developmental and epileptic
            encephalopathy: Genotypic phenotype analysis and treatment
            exploration
  JOURNAL   Mol Genet Genomic Med 10 (7), e1967 (2022)
   PUBMED   35638461
  REMARK    GeneRIF: ARHGEF9 gene variant leads to developmental and epileptic
            encephalopathy: Genotypic phenotype analysis and treatment
            exploration.
REFERENCE   3  (residues 1 to 456)
  AUTHORS   Hines DJ, Contreras A, Garcia B, Barker JS, Boren AJ, Moufawad El
            Achkar C, Moss SJ and Hines RM.
  TITLE     Human ARHGEF9 intellectual disability syndrome is phenocopied by a
            mutation that disrupts collybistin binding to the GABAA receptor
            alpha2 subunit
  JOURNAL   Mol Psychiatry 27 (3), 1729-1741 (2022)
   PUBMED   35169261
  REMARK    GeneRIF: Human ARHGEF9 intellectual disability syndrome is
            phenocopied by a mutation that disrupts collybistin binding to the
            GABAA receptor alpha2 subunit.
REFERENCE   4  (residues 1 to 456)
  AUTHORS   Ghesh L, Besnard T, Nizon M, Trochu E, Landeau-Trottier G, Breheret
            F, Thauvin-Robinet C, Bruel AL, Kuentz P, Coubes C, Cuisset L,
            Mignot C, Keren B, Bezieau S and Cogne B.
  TITLE     Loss-of-function variants in ARHGEF9 are associated with an
            X-linked intellectual disability dominant disorder
  JOURNAL   Hum Mutat 42 (5), 498-505 (2021)
   PUBMED   33600053
  REMARK    GeneRIF: Loss-of-function variants in ARHGEF9 are associated with
            an X-linked intellectual disability dominant disorder.
REFERENCE   5  (residues 1 to 456)
  AUTHORS   Scala M, Zonneveld-Huijssoon E, Brienza M, Mecarelli O, van der
            Hout AH, Zambrelli E, Turner K, Zara F, Peron A, Vignoli A and
            Striano P.
  TITLE     De novo ARHGEF9 missense variants associated with
            neurodevelopmental disorder in females: expanding the genotypic and
            phenotypic spectrum of ARHGEF9 disease in females
  JOURNAL   Neurogenetics 22 (1), 87-94 (2021)
   PUBMED   32939676
  REMARK    GeneRIF: De novo ARHGEF9 missense variants associated with
            neurodevelopmental disorder in females: expanding the genotypic and
            phenotypic spectrum of ARHGEF9 disease in females.
REFERENCE   6  (residues 1 to 456)
  AUTHORS   Harrington AW, Kim JY and Yoon SO.
  TITLE     Activation of Rac GTPase by p75 is necessary for c-jun N-terminal
            kinase-mediated apoptosis
  JOURNAL   J Neurosci 22 (1), 156-166 (2002)
   PUBMED   11756498
REFERENCE   7  (residues 1 to 456)
  AUTHORS   Grosskreutz Y, Hermann A, Kins S, Fuhrmann JC, Betz H and Kneussel
            M.
  TITLE     Identification of a gephyrin-binding motif in the GDP/GTP exchange
            factor collybistin
  JOURNAL   Biol Chem 382 (10), 1455-1462 (2001)
   PUBMED   11727829
  REMARK    GeneRIF: Here we identified residues critical for interaction with
            gephyrin in the linker region between the SH3 and the DH domains of
            collybistin.
REFERENCE   8  (residues 1 to 456)
  AUTHORS   Kins S, Betz H and Kirsch J.
  TITLE     Collybistin, a newly identified brain-specific GEF, induces
            submembrane clustering of gephyrin
  JOURNAL   Nat Neurosci 3 (1), 22-29 (2000)
   PUBMED   10607391
REFERENCE   9  (residues 1 to 456)
  AUTHORS   Reid T, Bathoorn A, Ahmadian MR and Collard JG.
  TITLE     Identification and characterization of hPEM-2, a guanine nucleotide
            exchange factor specific for Cdc42
  JOURNAL   J Biol Chem 274 (47), 33587-33593 (1999)
   PUBMED   10559246
REFERENCE   10 (residues 1 to 456)
  AUTHORS   Balint,B. and Thomas,R.
  TITLE     Hereditary Hyperekplexia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301437
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL451106.9, AL355142.11 and
            AL391277.16.
            
            Summary: The protein encoded by this gene is a Rho-like GTPase that
            switches between the active (GTP-bound) state and inactive
            (GDP-bound) state to regulate CDC42 and other genes. This
            brain-specific protein also acts as an adaptor protein for the
            recruitment of gephyrin and together these proteins facilitate
            receceptor recruitement in GABAnergic and glycinergic synapses.
            Defects in this gene are the cause of startle disease with epilepsy
            (STHEE), also known as hyperekplexia with epilepsy, as well as
            several other types of cognitive disability. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2017].
            
            Transcript Variant: This variant (8) encodes a protein that is the
            same length as variant (9) but isoforms 8 and 9 have distinct
            N-termini.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.3426751.1,
                                           SRR1803616.40247.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..456
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq11.1"
     Protein         1..456
                     /product="rho guanine nucleotide exchange factor 9 isoform
                     8"
                     /note="hPEM-2 collybistin; rho guanine nucleotide exchange
                     factor 9; PEM-2 homolog; rac/Cdc42 guanine nucleotide
                     exchange factor 9; Cdc42 guanine nucleotide exchange
                     factor (GEF) 9"
                     /calculated_mol_wt=54075
     Region          47..226
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; smart00325"
                     /db_xref="CDD:214619"
     Site            order(50,54,149,176..177,180..181,183..184,187..188,
                     191..192,195,221,225)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          231..370
                     /region_name="PH_Collybistin_ASEF"
                     /note="Collybistin/APC-stimulated guanine nucleotide
                     exchange factor pleckstrin homology (PH) domain; cd01224"
                     /db_xref="CDD:269931"
     CDS             1..456
                     /gene="ARHGEF9"
                     /gene_synonym="COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2;
                     PEM2"
                     /coded_by="NM_001353924.2:812..2182"
                     /note="isoform 8 is encoded by transcript variant 8"
                     /db_xref="GeneID:23229"
                     /db_xref="HGNC:HGNC:14561"
                     /db_xref="MIM:300429"
ORIGIN      
        1 mtllwvnqed eveegpsdvq nghldpnsdc lclgrplqnr dqmranvine imsterhyik
       61 hlkdicegyl kqcrkrrdmf sdeqlkvifg niediyrfqm gfvrdlekqy nnddphlsei
      121 gpcflehqdg fwiyseycnn hldacmelsk lmkdsryqhf feacrllqqm idiaidgfll
      181 tpvqkickyp lqlaellkyt aqdhsdyryv aaalavmrnv tqqinerkrr lenidkiaqw
      241 qasvldwege dildrsseli ytgemawiyq pygrnqqrvf flfdhqmvlc kkdlirrdil
      301 yykgridmdk yevvdiedgr dddfnvsmkn afklhnkete eihlffakkl eekirwlraf
      361 reerkmvqed ekigfeisen qkrqaamtvr kvpkqkgvns arsvppsypp pqdplnhgqy
      421 lvpdgiaqsq vfeftepkrs qspfwqnfsr ltpfkk
//
LOCUS       NP_861517                140 aa            linear   PRI 15-MAR-2023
DEFINITION  ubiquitin-conjugating enzyme E2 C isoform 4 [Homo sapiens].
ACCESSION   NP_861517
VERSION     NP_861517.1
DBSOURCE    REFSEQ: accession NM_181801.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 140)
  AUTHORS   Zhang S, You X, Zheng Y, Shen Y, Xiong X and Sun Y.
  TITLE     The UBE2C/CDH1/DEPTOR axis is an oncogene and tumor suppressor
            cascade in lung cancer cells
  JOURNAL   J Clin Invest 133 (4), e162434 (2023)
   PUBMED   36548081
  REMARK    GeneRIF: The UBE2C/CDH1/DEPTOR axis is an oncogene and tumor
            suppressor cascade in lung cancer cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 140)
  AUTHORS   Wu X, Long X, Ma C, Cheuk YC, Hu M, Hu J and Jiang H.
  TITLE     Overexpression of Ubiquitin-Conjugating Enzyme E2C Is Associated
            with Worsened Prognosis in Prostate Cancer
  JOURNAL   Int J Mol Sci 23 (22), 13873 (2022)
   PUBMED   36430352
  REMARK    GeneRIF: Overexpression of Ubiquitin-Conjugating Enzyme E2C Is
            Associated with Worsened Prognosis in Prostate Cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 140)
  AUTHORS   Zhou Y, Zhang J, Gong J, Tang X and Zhang C.
  TITLE     UBE2C mediated radiotherapy resistance of head and neck squamous
            cell carcinoma by regulating oxidative-stress-relative apoptosis
  JOURNAL   Aging (Albany NY) 14 (17), 7003-7013 (2022)
   PUBMED   36069832
  REMARK    GeneRIF: UBE2C mediated radiotherapy resistance of head and neck
            squamous cell carcinoma by regulating oxidative-stress-relative
            apoptosis.
REFERENCE   4  (residues 1 to 140)
  AUTHORS   Chen Z, Zhang M, Lu Y, Ding T, Liu Z, Liu Y, Zhou Z and Wang L.
  TITLE     Overexpressed lncRNA FTX promotes the cell viability,
            proliferation, migration and invasion of renal cell carcinoma via
            FTX/miR-4429/UBE2C axis
  JOURNAL   Oncol Rep 48 (3) (2022)
   PUBMED   35866591
  REMARK    GeneRIF: Overexpressed lncRNA FTX promotes the cell viability,
            proliferation, migration and invasion of renal cell carcinoma via
            FTX/miR4429/UBE2C axis.
REFERENCE   5  (residues 1 to 140)
  AUTHORS   Yang YF, Chang YC, Tsai KW, Hung MH and Kang BH.
  TITLE     UBE2C triggers HIF-1alpha-glycolytic flux in head and neck squamous
            cell carcinoma
  JOURNAL   J Cell Mol Med 26 (13), 3716-3725 (2022)
   PUBMED   35615976
  REMARK    GeneRIF: UBE2C triggers HIF-1alpha-glycolytic flux in head and neck
            squamous cell carcinoma.
REFERENCE   6  (residues 1 to 140)
  AUTHORS   Okamoto Y, Ozaki T, Miyazaki K, Aoyama M, Miyazaki M and Nakagawara
            A.
  TITLE     UbcH10 is the cancer-related E2 ubiquitin-conjugating enzyme
  JOURNAL   Cancer Res 63 (14), 4167-4173 (2003)
   PUBMED   12874022
  REMARK    GeneRIF: UbcH10 is highly expressed in various human primary tumors
            and UbcH10 has an ability to promote cell growth and malignant
            transformation.
REFERENCE   7  (residues 1 to 140)
  AUTHORS   Yurchenko V, Xue Z and Sadofsky M.
  TITLE     The RAG1 N-terminal domain is an E3 ubiquitin ligase
  JOURNAL   Genes Dev 17 (5), 581-585 (2003)
   PUBMED   12629039
REFERENCE   8  (residues 1 to 140)
  AUTHORS   Lin Y, Hwang WC and Basavappa R.
  TITLE     Structural and functional analysis of the human mitotic-specific
            ubiquitin-conjugating enzyme, UbcH10
  JOURNAL   J Biol Chem 277 (24), 21913-21921 (2002)
   PUBMED   11927573
REFERENCE   9  (residues 1 to 140)
  AUTHORS   Tang Z, Li B, Bharadwaj R, Zhu H, Ozkan E, Hakala K, Deisenhofer J
            and Yu H.
  TITLE     APC2 Cullin protein and APC11 RING protein comprise the minimal
            ubiquitin ligase module of the anaphase-promoting complex
  JOURNAL   Mol Biol Cell 12 (12), 3839-3851 (2001)
   PUBMED   11739784
REFERENCE   10 (residues 1 to 140)
  AUTHORS   Townsley FM, Aristarkhov A, Beck S, Hershko A and Ruderman JV.
  TITLE     Dominant-negative cyclin-selective ubiquitin carrier protein
            E2-C/UbcH10 blocks cells in metaphase
  JOURNAL   Proc Natl Acad Sci U S A 94 (6), 2362-2367 (1997)
   PUBMED   9122200
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL050348.22, BI858659.1,
            BP227692.1 and BC007656.2.
            
            Summary: The modification of proteins with ubiquitin is an
            important cellular mechanism for targeting abnormal or short-lived
            proteins for degradation. Ubiquitination involves at least three
            classes of enzymes: ubiquitin-activating enzymes,
            ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This
            gene encodes a member of the E2 ubiquitin-conjugating enzyme
            family. The encoded protein is required for the destruction of
            mitotic cyclins and for cell cycle progression, and may be involved
            in cancer progression. Multiple transcript variants encoding
            different isoforms have been found for this gene. Pseudogenes of
            this gene have been defined on chromosomes 4, 14, 15, 18, and 19.
            [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (4) has an alternate 5'-terminal
            exon and initiates translation at a downstream start codon,
            compared to variant 1. The encoded isoform (4) has a shorter
            N-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.170877.1,
                                           SRR1163658.260656.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..140
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     Protein         1..140
                     /product="ubiquitin-conjugating enzyme E2 C isoform 4"
                     /EC_number="2.3.2.23"
                     /EC_number="2.3.2.24"
                     /note="ubiquitin-protein ligase C; cyclin-selective
                     ubiquitin carrier protein; mitotic-specific
                     ubiquitin-conjugating enzyme; E2 ubiquitin-conjugating
                     enzyme C; (E3-independent) E2 ubiquitin-conjugating enzyme
                     C; ubiquitin conjugating enzyme E2C"
                     /calculated_mol_wt=15634
     Region          1..131
                     /region_name="UQ_con"
                     /note="Ubiquitin-conjugating enzyme; pfam00179"
                     /db_xref="CDD:395127"
     Site            order(51..52,85..86)
                     /site_type="active"
                     /note="E3 interaction residues [active]"
                     /db_xref="CDD:238117"
     Site            order(62..63,67..68,70,74..76,78..79,83..84,87,92,95,98,
                     101..102,104,106..107)
                     /site_type="active"
                     /note="Ub thioester intermediate interaction residues
                     [active]"
                     /db_xref="CDD:238117"
     Site            75
                     /site_type="active"
                     /note="active site cysteine"
                     /db_xref="CDD:238117"
     CDS             1..140
                     /gene="UBE2C"
                     /gene_synonym="dJ447F3.2; UBCH10"
                     /coded_by="NM_181801.4:313..735"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS13374.1"
                     /db_xref="GeneID:11065"
                     /db_xref="HGNC:HGNC:15937"
                     /db_xref="MIM:605574"
ORIGIN      
        1 mtlmmsgdkg isafpesdnl fkwvgtihga agtvyedlry klslefpsgy pynaptvkfl
       61 tpcyhpnvdt qgnicldilk ekwsalydvr tillsiqsll gepnidspln thaaelwknp
      121 tafkkylqet yskqvtsqep
//
LOCUS       NP_001369699             499 aa            linear   PRI 18-MAR-2023
DEFINITION  interleukin-6 receptor subunit alpha isoform 5 precursor [Homo
            sapiens].
ACCESSION   NP_001369699
VERSION     NP_001369699.1
DBSOURCE    REFSEQ: accession NM_001382770.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 499)
  AUTHORS   Wu H, He C, Fu Y, Li X, Zheng Y, Mo R, Zhang L, Zhao J, Zhang B,
            Lin Q, Xie T and Ding Y.
  TITLE     IL6R gene polymorphisms and their relation to chronic obstructive
            pulmonary disease susceptibility in the Chinese population
  JOURNAL   Biomark Med 16 (17), 1229-1237 (2022)
   PUBMED   36809146
  REMARK    GeneRIF: IL6R gene polymorphisms and their relation to chronic
            obstructive pulmonary disease susceptibility in the Chinese
            population.
REFERENCE   2  (residues 1 to 499)
  AUTHORS   Uciechowski P and Dempke WCM.
  TITLE     Interleukin-6: A Masterplayer in the Cytokine Network
  JOURNAL   Oncology 98 (3), 131-137 (2020)
   PUBMED   31958792
  REMARK    Review article
REFERENCE   3  (residues 1 to 499)
  AUTHORS   Schaper F and Rose-John S.
  TITLE     Interleukin-6: Biology, signaling and strategies of blockade
  JOURNAL   Cytokine Growth Factor Rev 26 (5), 475-487 (2015)
   PUBMED   26189695
  REMARK    Review article
REFERENCE   4  (residues 1 to 499)
  AUTHORS   Hunter CA and Jones SA.
  TITLE     IL-6 as a keystone cytokine in health and disease
  JOURNAL   Nat Immunol 16 (5), 448-457 (2015)
   PUBMED   25898198
  REMARK    Review article
            Erratum:[Nat Immunol. 2017 Oct 18;18(11):1271. PMID: 29044237]
REFERENCE   5  (residues 1 to 499)
  AUTHORS   Mihara M, Hashizume M, Yoshida H, Suzuki M and Shiina M.
  TITLE     IL-6/IL-6 receptor system and its role in physiological and
            pathological conditions
  JOURNAL   Clin Sci (Lond) 122 (4), 143-159 (2012)
   PUBMED   22029668
  REMARK    Review article
REFERENCE   6  (residues 1 to 499)
  AUTHORS   Boulanger MJ, Chow DC, Brevnova EE and Garcia KC.
  TITLE     Hexameric structure and assembly of the interleukin-6/IL-6
            alpha-receptor/gp130 complex
  JOURNAL   Science 300 (5628), 2101-2104 (2003)
   PUBMED   12829785
  REMARK    GeneRIF: a structural model, derived from 3.65 A resolution
            crystallographic data of the complex between IL-6, the
            extracellular binding domains of IL-6R, and the extracellular
            activation and binding domains of gp130 is presented
            Erratum:[Science. 2003 Aug 15;301(5635):918]
REFERENCE   7  (residues 1 to 499)
  AUTHORS   Kluck PM, Wiegant J, Jansen RP, Bolk MW, Raap AK, Willemze R and
            Landegent JE.
  TITLE     The human interleukin-6 receptor alpha chain gene is localized on
            chromosome 1 band q21
  JOURNAL   Hum Genet 90 (5), 542-544 (1993)
   PUBMED   8428753
REFERENCE   8  (residues 1 to 499)
  AUTHORS   Schooltink H, Stoyan T, Roeb E, Heinrich PC and Rose-John S.
  TITLE     Ciliary neurotrophic factor induces acute-phase protein expression
            in hepatocytes
  JOURNAL   FEBS Lett 314 (3), 280-284 (1992)
   PUBMED   1281789
REFERENCE   9  (residues 1 to 499)
  AUTHORS   Szpirer J, Szpirer C, Riviere M, Houart C, Baumann M, Fey GH, Poli
            V, Cortese R, Islam MQ and Levan G.
  TITLE     The Interleukin-6-dependent DNA-binding protein gene (transcription
            factor 5: TCF5) maps to human chromosome 20 and rat chromosome 3,
            the IL6 receptor locus (IL6R) to human chromosome 1 and rat
            chromosome 2, and the rat IL6 gene to rat chromosome 4
  JOURNAL   Genomics 10 (3), 539-546 (1991)
   PUBMED   1889804
REFERENCE   10 (residues 1 to 499)
  AUTHORS   Yamasaki K, Taga T, Hirata Y, Yawata H, Kawanishi Y, Seed B,
            Taniguchi T, Hirano T and Kishimoto T.
  TITLE     Cloning and expression of the human interleukin-6 (BSF-2/IFN beta
            2) receptor
  JOURNAL   Science 241 (4867), 825-828 (1988)
   PUBMED   3136546
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162591.16.
            
            Summary: This gene encodes a subunit of the interleukin 6 (IL6)
            receptor complex. Interleukin 6 is a potent pleiotropic cytokine
            that regulates cell growth and differentiation and plays an
            important role in the immune response. The IL6 receptor is a
            protein complex consisting of this protein and interleukin 6 signal
            transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared
            by many other cytokines. Dysregulated production of IL6 and this
            receptor are implicated in the pathogenesis of many diseases, such
            as multiple myeloma, autoimmune diseases and prostate cancer.
            Alternatively spliced transcript variants encoding distinct
            isoforms have been identified in this gene. A pseudogene of this
            gene is found on chromosome 9. [provided by RefSeq, Aug 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in cytokine storm inflammatory
                                   response
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..499
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..499
                     /product="interleukin-6 receptor subunit alpha isoform 5
                     precursor"
                     /note="CD126 antigen; membrane glycoprotein 80; IL-6
                     receptor subunit alpha"
                     /calculated_mol_wt=53176
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1697
     Region          34..110
                     /region_name="IgC2_D1_IL-6RA"
                     /note="Immunoglobulin-like domain D1 of interleukin-6
                     receptor alpha-chain (IL-6RA, also known as CD126); member
                     of the C2-set of IgSF domains; cd20939"
                     /db_xref="CDD:409533"
     Region          34..38
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409533"
     Region          41..47
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409533"
     Region          57..63
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409533"
     Region          72..77
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409533"
     Region          79..85
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409533"
     Region          92..98
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409533"
     Region          102..110
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409533"
     Region          118..213
                     /region_name="IL6Ra-bind"
                     /note="Interleukin-6 receptor alpha chain, binding;
                     pfam09240"
                     /db_xref="CDD:401252"
     Region          216..308
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(216,284,299)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(300..301,303..304)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..499
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /coded_by="NM_001382770.1:288..1787"
                     /note="isoform 5 precursor is encoded by transcript
                     variant 5"
                     /db_xref="GeneID:3570"
                     /db_xref="HGNC:HGNC:6019"
                     /db_xref="MIM:147880"
ORIGIN      
        1 mlavgcalla allaapgaal aprrcpaqev argvltslpg dsvtltcpgv epednatvhw
       61 vlrkpaagsh psrwagmgrr lllrsvqlhd sgnyscyrag rpagtvhllv dvppeepqls
      121 cfrksplsnv vcewgprstp slttkavllv rkfqnspaed fqepcqysqe sqkfscqlav
      181 pegdssfyiv smcvassvgs kfsktqtfqg cgilqpdppa nitvtavarn prwlsvtwqd
      241 phswnssfyr lrfelryrae rsktfttwmv kdlqhhcvih dawsglrhvv qlraqeefgq
      301 gewsewspea mgtpwtemrs hyvtqagfkl laswdspasv sqsagitesr sppaenevst
      361 pmqalttnkd ddnilfrdsa natslpvqds ssvplptflv aggslafgtl lciaivlrfk
      421 ktwklralke gktsmhppys lgqlvperpr ptpvlvplis ppvspsslgs dntsshnrpd
      481 ardprspydi sntdyffpr
//
LOCUS       XP_047273073             787 aa            linear   PRI 20-MAR-2023
DEFINITION  cation channel sperm-associated auxiliary subunit epsilon isoform
            X8 [Homo sapiens].
ACCESSION   XP_047273073
VERSION     XP_047273073.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417117.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..787
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..787
                     /product="cation channel sperm-associated auxiliary
                     subunit epsilon isoform X8"
                     /calculated_mol_wt=90230
     CDS             1..787
                     /gene="CATSPERE"
                     /gene_synonym="C10orf101; C1orf101"
                     /coded_by="XM_047417117.1:1036..3399"
                     /db_xref="GeneID:257044"
                     /db_xref="HGNC:HGNC:28491"
                     /db_xref="MIM:617510"
ORIGIN      
        1 mqrsglrrci lgplclpsag ekkeerekrq iqlascylhw iffgkikley egtlftewsv
       61 petcfvlnks spttelrcss pgvhaikpiv tgpdeeeryl fvesshtcfl wyyrvrhffn
      121 nftqlitvwa ydpesadpde llgnaeepsi nsivlstqma tlgqkpviht vlkrkvyssn
      181 ekmrrgtwri vvpmtkddal keirgnqvtf qdcfiadfli lltfplltip eipgylpiss
      241 prgsqlmasw dacvvasavl vtdmetfhtt dsfkswtrir vppdilsdde rrsvahvils
      301 rdgivfling vlyiksfrgf irlggivnlp dggitgissr kwcwvnyllk akgrrstfav
      361 wteneiylgs illkfarlvt ttelknilsl svtatltidr veytghplei avflnyctvc
      421 nvtkkiflvi ynedtkqwvs qdftldapid svtmphftfs alpglllwnk hsiyycyhnf
      481 tftgilqtpa ghgnlsmlsn dsiihevfid yygdilvkme nnvifyskin trdavklhlw
      541 tnyttrafif lstsgqtyfl yalddgtiqi qdyplhleaq siafttkdkc pymafhnnva
      601 hvfyfldkge altvwtqivy pentglyviv esygpkilqe sheisfeaaf gyctktltlt
      661 fyqnvdyeri sdyfetqdkh tglvlvqfrp seyskacpia qkvfqiavgc ddkkfiaikg
      721 fskkgchhhd fsyvieksyl rhqpsknlrv ryiwgeygcp lrldftekfq pvvqlvvvym
      781 khrhgsq
//
LOCUS       XP_047291100             778 aa            linear   PRI 20-MAR-2023
DEFINITION  CSC1-like protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047291100
VERSION     XP_047291100.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435144.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..778
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..778
                     /product="CSC1-like protein 1 isoform X2"
                     /calculated_mol_wt=88740
     Region          52..210
                     /region_name="RSN1_TM"
                     /note="Late exocytosis, associated with Golgi transport;
                     pfam13967"
                     /db_xref="CDD:433613"
     Region          228..410
                     /region_name="PHM7_cyt"
                     /note="Cytosolic domain of 10TM putative phosphate
                     transporter; pfam14703"
                     /db_xref="CDD:434143"
     Region          439..663
                     /region_name="RSN1_7TM"
                     /note="Calcium-dependent channel, 7TM region, putative
                     phosphate; pfam02714"
                     /db_xref="CDD:397021"
     CDS             1..778
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /coded_by="XM_047435144.1:15..2351"
                     /db_xref="GeneID:9725"
                     /db_xref="HGNC:HGNC:29118"
                     /db_xref="MIM:618685"
ORIGIN      
        1 mmdspflelw qskavsireq lglgdrpnds ycynsaknst vlqgvtfggi ptvllidvsc
       61 flflilvfsi irrrfwdygr ialvseadse srfqrlssts ssgqqdfene lgccpwltai
      121 frlhddqile wcgedaihyl sfqrhiifll vvvsflslcv ilpvnlsgdl ldkdpysfgr
      181 ttianlqtdn dllwlhtifa viylfltvgf mrhhtqsiky keenlvrrtl fitglprdar
      241 ketveshfrd ayptcevvdv qlcynvakli ylckekkkte ksltyytnlq vktgqrtlin
      301 pkpcgqfccc evlgceweda isyytrmkdr lleriteeer hvqdqplgma fvtfqeksma
      361 tyilkdfnac kcqslqckge pqpsshsrel ytskwtvtfa adpedicwkn lsiqglrwwl
      421 qwlginftlf lglfflttps iilstmdkfn vtkpihalnn piisqffptl llwsfsallp
      481 sivyystlle shwtnldfff rwlfdktsse asirlecvfl pdqgaffvny viasafigng
      541 mellrlpgli lytfrmimak taadrrnvkq nqafqyefga myawmlcvft vivaysitcp
      601 iiapfgliyi llkhmvdrhn lyfvylpakl ekgihfaavn qalaapilcl fwlyffsflr
      661 lgmkapatlf tflvllltil vclahtcfgc fkhlsplnyk teepasdkgs eaeahmpppf
      721 tpyvprilng lasertalsp qqqqqqtyga ihnisgtipg qclaqsatgs vaaapqea
//
LOCUS       XP_016872701             438 aa            linear   PRI 20-MAR-2023
DEFINITION  NXPE family member 2 isoform X4 [Homo sapiens].
ACCESSION   XP_016872701
VERSION     XP_016872701.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017212.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..438
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..438
                     /product="NXPE family member 2 isoform X4"
                     /calculated_mol_wt=50813
     Region          <142..274
                     /region_name="Neurexophilin"
                     /note="pfam06312"
                     /db_xref="CDD:428882"
     CDS             1..438
                     /gene="NXPE2"
                     /gene_synonym="FAM55B"
                     /coded_by="XM_017017212.2:50..1366"
                     /db_xref="GeneID:120406"
                     /db_xref="HGNC:HGNC:26331"
ORIGIN      
        1 mvekilihri ltlfpnaiar klllmltfil ifwiiylask dhtkfsfnle nhiilnqgni
       61 fkkyshsetp lcpavspket elrikdimek ldqqipprpf thvntttsat hstatilnpq
      121 dtycrgdqld illevrdhlg hrkqyggdfl rarmystalm agasgkvtdf nngtylvsft
      181 lfwegqvsls lllihpsegv salwrarnqg cdriiftglf anrssnvfte cgltlntnae
      241 lcqymddrdq eafycvrpqh mpcealthmt trtrnisyls keewrlfhrs nigvemmknf
      301 tpievipcnk senikkncqi gmktpfpsgy tlkkmwitaf ckqikfnetk nindclerkl
      361 iylmgdstlh qwiyylqkav krkcprpemw leeedqgfln kgfrwkepqi lanstlcrll
      421 srsygldswm lkefenka
//
LOCUS       XP_047285354            2107 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase WNK1 isoform X42 [Homo sapiens].
ACCESSION   XP_047285354
VERSION     XP_047285354.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429398.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2107
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..2107
                     /product="serine/threonine-protein kinase WNK1 isoform
                     X42"
                     /calculated_mol_wt=222682
     Region          195..483
                     /region_name="STKc_WNK1"
                     /note="Catalytic domain of the Serine/Threonine protein
                     kinase, With No Lysine (WNK) 1; cd14030"
                     /db_xref="CDD:270932"
     Site            order(227..231,233,235,248,250,281,301..304,308,310,349,
                     351,353..354,356,368,371,385..388)
                     /site_type="active"
                     /db_xref="CDD:270932"
     Site            order(227..231,233,235,248,250,281,301..304,308,349,351,
                     353..354,356,368)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270932"
     Site            order(231,308,310,349,351,353,371,385..388)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270932"
     Site            367..388
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270932"
     Region          500..563
                     /region_name="OSR1_C"
                     /note="Oxidative-stress-responsive kinase 1 C-terminal
                     domain; pfam12202"
                     /db_xref="CDD:432397"
     Region          <1299..1592
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..2107
                     /gene="WNK1"
                     /gene_synonym="HSAN2; HSN2; KDP; p65; PPP1R167; PRKWNK1;
                     PSK"
                     /coded_by="XM_047429398.1:988..7311"
                     /db_xref="GeneID:65125"
                     /db_xref="HGNC:HGNC:14540"
                     /db_xref="MIM:605232"
ORIGIN      
        1 msggaaekqs stpgslflsp papapkngss sdssvgeklg aaaadavtgr teeyrrrrht
       61 mdkdsrgaaa tttttehrff rrsvicdsna talelpglpl slpqpsipaa vpqsappeph
      121 reetvtatat sqvaqqppaa aapgeqavag papstvpsst skdrpvsqps lvgskeeppp
      181 arsgsgggsa kepqeersqq qddieeletk avgmsndgrf lkfdieigrg sfktvykgld
      241 tettvevawc elqdrkltks erqrfkeeae mlkglqhpni vrfydswest vkgkkcivlv
      301 telmtsgtlk tylkrfkvmk ikvlrswcrq ilkglqflht rtppiihrdl kcdnifitgp
      361 tgsvkigdlg latlkrasfa ksvigtpefm apemyeekyd esvdvyafgm cmlematsey
      421 pysecqnaaq iyrrvtsgvk pasfdkvaip evkeiiegci rqnkderysi kdllnhaffq
      481 eetgvrvela eeddgekiai klwlriedik klkgkykdne aiefsfdler dvpedvaqem
      541 vesgyvcegd hktmakaikd rvslikrkre qrqlvreeqe kkkqeesslk qqveqssasq
      601 tgikqlpsas tgiptastts asvstqvepe epeadqhqql qyqqpsisvl sdgtvdsgqg
      661 ssvftesrvs sqqtvsygsq heqahstgtv pghipstvqa qsqphgvypp ssvqqgiqqt
      721 appqqtvqys lsqtstssea ttaqpvsqpq apqvlpqvsa gkqstqgvsq vapaepvava
      781 qtqatqpttl assvdsahsd vasgmsdgne nvpsssgrhe grttkrhyrk svrsrsrhek
      841 tsrpklriln vsnkgdrvve cqlethnrkm vtfkfdldgd npeeiatimv nndfilaier
      901 esfvdqvrei iekademlse dvsvepegdq gleslqgkdd ygfsgsqkle gefkqpipas
      961 smpqqigipt ssltqvvhsa grrfivspvp esrlreskvf pseitdtvaa staqspgmnl
     1021 shsasslslq qafselrraq mtegpntapp nfshtgptfp vvppflssia gvpttaaata
     1081 pvpatssppn distsviqse vtvpteegia gvatstgvvt sgglpippvs espvlssvvs
     1141 sitipavvsi sttspslqvp tstseivvss talypsvtvs atsasaggst atpgpkppav
     1201 vsqqaagstt vgatltsvst ttsfpstasq lciqlsssts tptlaetvvv sahsldktsh
     1261 ssttglafsl sapssssspg agvssyisqp gglhplvips viastpilpq aagptstpll
     1321 pqvpsipplv qpvanvpavq qtlihsqpqp allpnqphth cpevdsdtqp kapgiddikt
     1381 leeklrslfs ehsssgaqha svsletslvi estvtpgipt tavapskllt sttstclppt
     1441 nlplgtvalp vtpvvtpgqv stpvstttsg vkpgtapskp pltkapvlpv gtelpagtlp
     1501 seqlppfpgp sltqsqqple dldaqlrrtl spemitvtsa vgpvsmaapt aiteagtqpq
     1561 kvsqvkegpv latssgagvf kmgrfqvsva adgaqkegkn ksedaksvhf esstsessvl
     1621 sssspestlv kpepngitip gissdvpesa hkttaseaks dtgqptkvgr fqvtttankv
     1681 grfsvskted kitdtkkegp vasppfmdle qavlpavipk kekpelseps hlngpssdpe
     1741 aaflsrdvdd gsgsphsphq lsskslpsqn lsqslsnsfn ssymssdnes diededlkle
     1801 lrrlrdkhlk eiqdlqsrqk heieslytkl gkvppaviip paaplsgrrr rptkskgsks
     1861 srssslgnks pqlsgnlsgq saasvlhpqq tlhppgnipe sgqnqllqpl kpspssdnly
     1921 saftsdgais vpslsapgqg tsstntvgat vnsqaaqaqp pamtssrkgt ftddlhklvd
     1981 nwardamnls grrgskghmn yegpgmarkf sapgqlcism tsnlggsapi saasatslgh
     2041 ftksmcppqq ygfpatpfga qwsgtggpap qplgqfqpvg taslqnfnis nlqksisnpp
     2101 gsnlrtt
//
LOCUS       XP_016875437            2194 aa            linear   PRI 20-MAR-2023
DEFINITION  voltage-dependent L-type calcium channel subunit alpha-1C isoform
            X24 [Homo sapiens].
ACCESSION   XP_016875437
VERSION     XP_016875437.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019948.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2194
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..2194
                     /product="voltage-dependent L-type calcium channel subunit
                     alpha-1C isoform X24"
                     /calculated_mol_wt=245255
     Region          179..472
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          579..820
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          955..1232
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1274..1543
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1552..1605
                     /region_name="GPHH"
                     /note="Voltage-dependent L-type calcium channel,
                     IQ-associated; pfam16905"
                     /db_xref="CDD:435642"
     Region          1615..1689
                     /region_name="Ca_chan_IQ"
                     /note="Voltage gated calcium channel IQ domain; pfam08763"
                     /db_xref="CDD:430200"
     Region          1709..2144
                     /region_name="CAC1F_C"
                     /note="Voltage-gated calcium channel subunit alpha,
                     C-term; pfam16885"
                     /db_xref="CDD:435629"
     CDS             1..2194
                     /gene="CACNA1C"
                     /gene_synonym="CACH2; CACN2; CACNA1C-IT2; CACNL1A1;
                     CaV1.2; CCHL1A1; LQT8; NEDHLSS; TS; TS. LQT8"
                     /coded_by="XM_017019948.3:284..6868"
                     /db_xref="GeneID:775"
                     /db_xref="HGNC:HGNC:1390"
                     /db_xref="MIM:114205"
ORIGIN      
        1 mlrafvqpgt payqplpshl santevkfkg tlvheaqlny fyispgespv rtssvqtpsh
       61 ptstepcgpp tlcsnygspr pahanmnana aaglapehip tpgaalswqa aidaarqakl
      121 mgsagnatis tvsstqrkrq qygkpkkqgs ttatrppral lcltlknpir racisivewk
      181 pfeiiillti fancvalaiy ipfpeddsna tnsnlervey lfliiftvea flkviaygll
      241 fhpnaylrng wnlldfiivv vglfsaileq atkadganal ggkgagfdvk alrafrvlrp
      301 lrlvsgvpsl qvvlnsiika mvpllhiall vlfviiiyai iglelfmgkm hktcynqegi
      361 advpaeddps pcaletghgr qcqngtvckp gwdgpkhgit nfdnfafaml tvfqcitmeg
      421 wtdvlywvnd avgrdwpwiy fvtliiigsf fvlnlvlgvl sgefskerek akargdfqkl
      481 rekqqleedl kgyldwitqa edidpenede gmdeekprnm smptsetesv ntenvaggdi
      541 egencgarla hriskskfsr ywrrwnrfcr rkcraavksn vfywlviflv flntltiase
      601 hynqpnwlte vqdtankall alftaemllk myslglqayf vslfnrfdcf vvcggileti
      661 lvetkimspl gisvlrcvrl lrifkitryw nslsnlvasl lnsvrsiasl llllflfiii
      721 fsllgmqlfg gkfnfdemqt rrstfdnfpq slltvfqilt gedwnsvmyd gimayggpsf
      781 pgmlvciyfi ilficgnyil lnvflaiavd nladaeslts aqkeeeeeke rkklartasp
      841 ekkqelvekp avgeskeeki elksitadge sppatkinmd dlqpnenedk spypnpettg
      901 eedeeepemp vgprprplse lhlkekavpm peasaffifs snnrfrlqch rivndtiftn
      961 lilffillss islaaedpvq htsfrnhilg nadyvftsif tleiilkmta ygaflhkgsf
     1021 crnyfnildl lvvsvslisf giqssainvv kilrvlrvlr plrainrakg lkhvvqcvfv
     1081 airtignivi vttllqfmfa cigvqlfkgk lytcsdsskq teaeckgnyi tykdgevdhp
     1141 iiqprswens kfdfdnvlaa mmalftvstf egwpellyrs idshtedkgp iynyrveisi
     1201 ffiiyiiiia ffmmnifvgf vivtfqeqge qeyknceldk nqrqcveyal karplrryip
     1261 knqhqykvwy vvnstyfeyl mfvlillnti clamqhygqs clfkiamnil nmlftglftv
     1321 emilkliafk pkgyfsdpwn vfdflivigs iidvilsetn paehtqcsps mnaeensris
     1381 itffrlfrvm rlvkllsrge girtllwtfi ksfqalpyva llivmlffiy avigmqvfgk
     1441 ialndttein rnnnfqtfpq avlllfrcat geawqdimla cmpgkkcape sepsnstege
     1501 tpcgssfavf yfisfymlca fliinlfvav imdnfdyltr dwsilgphhl defkriwaey
     1561 dpeakgrikh ldvvtllrri qpplgfgklc phrvackrlv smnmplnsdg tvmfnatlfa
     1621 lvrtalrikt egnleqanee lraiikkiwk rtsmklldqv vppagddevt vgkfyatfli
     1681 qeyfrkfkkr keqglvgkps qrnalslqag lrtlhdigpe irraisgdlt aeeeldkamk
     1741 eavsaasedd ifrragglfg nhvsyyqsdg rsafpqtftt qrplhinkag ssqgdtesps
     1801 heklvdstft pssysstgsn aninnannta lgrlprpagy pstvstvegh gpplspairv
     1861 qevawklssn rchsresqaa magqeetsqd etyevkmnhd teacsepsll stemlsyqdd
     1921 enrqltlpee dkrdirqspk rgflrsaslg rrasfhlecl krqkdrggdi sqktvlplhl
     1981 vhhqalavag lspllqrshs pasfprpfat ppatpgsrgw ppqpvptlrl egvessekln
     2041 ssfpsihcgs waettpgggg ssaarrvrpv slmvpsqaga pgrqfhgsas slveavlise
     2101 glgqfaqdpk fievttqela dacdmtieem esaadnilsg gapqspngal lpfvncrdag
     2161 qdraggeeda gcvrargrps eeelqdsrvy vssl
//
LOCUS       XP_047288340             386 aa            linear   PRI 20-MAR-2023
DEFINITION  vacuolar protein sorting-associated protein 33B isoform X3 [Homo
            sapiens].
ACCESSION   XP_047288340
VERSION     XP_047288340.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432384.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..386
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..386
                     /product="vacuolar protein sorting-associated protein 33B
                     isoform X3"
                     /calculated_mol_wt=44513
     Region          37..>383
                     /region_name="Sec1"
                     /note="Sec1 family; pfam00995"
                     /db_xref="CDD:425980"
     CDS             1..386
                     /gene="VPS33B"
                     /gene_synonym="KDIDAR; PFIC12"
                     /coded_by="XM_047432384.1:373..1533"
                     /db_xref="GeneID:26276"
                     /db_xref="HGNC:HGNC:12712"
                     /db_xref="MIM:608552"
ORIGIN      
        1 mafphrpdap elpdfsmlkr lardqliyll eqlpgkkdlf ieadlmspld rianvsilkq
       61 hevdklykve nkpalssneq lcflvrprik nmryiaslvn adklagrtrk ykvifspqkf
      121 yacemvleee giygdvscde wafsllpldv dllsmelpef frdyflegdq rwintvaqal
      181 hllstlygpf pncygigrca kmayelwrnl eeeedgetkg rrpeighifl ldrdvdfvta
      241 lcsqvvyegl vddtfrikcg svdfgpevts sdkslkvlln aedkvfneir nehfsnvfgf
      301 lsqkarnlqa qydrrrgmdi kqmknfvsqe lkglkqehrl lslhigaces imkkktkqdf
      361 qeliktehad tgyvecwfll evlgvp
//
LOCUS       XP_047289191            4882 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase HERC1 isoform X19 [Homo
            sapiens].
ACCESSION   XP_047289191
VERSION     XP_047289191.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433235.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4882
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..4882
                     /product="probable E3 ubiquitin-protein ligase HERC1
                     isoform X19"
                     /calculated_mol_wt=534335
     Region          374..731
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          2031..2188
                     /region_name="SPRY_HERC1"
                     /note="SPRY domain in HERC1; cd12881"
                     /db_xref="CDD:293939"
     Region          2752..2795
                     /region_name="UBA_HERC1"
                     /note="UBA domain found in probable E3 ubiquitin-protein
                     ligase HERC1 and similar proteins; cd14401"
                     /db_xref="CDD:270584"
     Region          3445..3796
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(3448,3466,3470,3476..3477,3504..3505,3527,
                     3533..3534,3546..3547,3572,3577,3583..3584,3602,3619,3624,
                     3645..3646,3664,3668,3674..3675,3688..3689,3713,3718,
                     3724..3725,3766..3767,3785,3789,3795..3796)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          3453..3496
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3510..3545
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3550..3597
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3606..3641
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3650..3686
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3693..3724
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3771..3807
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          4019..4367
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          4494..4862
                     /region_name="HECTc"
                     /note="HECT domain; C-terminal catalytic domain of a
                     subclass of Ubiquitin-protein ligase (E3). It binds
                     specific ubiquitin-conjugating enzymes (E2), accepts
                     ubiquitin from E2, transfers ubiquitin to substrate lysine
                     side chains, and transfers additional...; cd00078"
                     /db_xref="CDD:238033"
     Site            order(4499,4540,4551,4618,4796,4826..4827,4830..4834,4854,
                     4861)
                     /site_type="active"
                     /note="catalytic cleft [active]"
                     /db_xref="CDD:238033"
     Site            order(4646,4649..4650,4652..4653,4656,4664,4666,
                     4670..4671,4673,4682,4687,4704,4708)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..4882
                     /gene="HERC1"
                     /gene_synonym="MDFPMR; p532; p619"
                     /coded_by="XM_047433235.1:154..14802"
                     /db_xref="GeneID:8925"
                     /db_xref="HGNC:HGNC:4867"
                     /db_xref="MIM:605109"
ORIGIN      
        1 matmippvkl kwlehlnssw itedsesiat regvavlysk lvsnkevvpl pqqvlclkgp
       61 qlpdferesl ssdeqdhyld allssqlala kmvcsdspfa galrkrllvl qrvfyalsnk
      121 yhdkgkvkqq qhspesssgs advhsvserp rsstdaliem gvrtglsllf allrqswmmp
      181 vsgpglslcn dvihtaievv sslpplslan eskippmgld clsqvttflk gvtipnsgad
      241 tlgrrlasel llglaaqrgs lryllewiem algasavvht mekgkllssq egmisfdcfm
      301 tilmqmrrsl gssadrsqwr eptrtsdglc slyeaalclf eevcrmasdy srtcaspdsi
      361 qtgdapivse tcevyvwgsn sshqlvegtq ekilqpklap sfsdaqtiea gqyctfvist
      421 dgsvracgkg sygrlglgds nnqstlkklt fephrsikkv ssskgsdght lafttegevf
      481 swgdgdygkl ghgnsstqky pkliqgplqg kvvvcvsagy rhsaavtedg elytwgegdf
      541 grlghgdsns rniptlvkdi snvgevscgs shtialskdg rtvwsfgggd ngklghgdtn
      601 rvykpkviea lqgmfirkvc agsqsslalt stgqvyawgc gaclgcgsse atalrpklie
      661 elaatrivdv sigdshclal shdnevyawg nnsmgqcgqg nstgpitkpk kvsgldgiai
      721 qqisagtshs lawtalprdr qvvawhrpyc vdleestfsh lrsflerycd kinseipplp
      781 fpssrehhsf lklclkllsn hlalalaggv atsilgrqag plrnllfrlm dstvpdeiqe
      841 vvietlsvga tmllpplrer mellhsllpq gpdrweslsk gqrmqldiil tslqdhthva
      901 sllgysspsd aadlssvctg ygnlsdqpyg tqschpdthl aeilmktllr nlgfytdqaf
      961 geleknsdkf llgtsssens qpahlhellc slqkqllafc hinnisenss svallhkhlq
     1021 lllphatdiy srsanllkes pwngsvgekl rdviyvsaag smlcqivnsl lllpvsvarp
     1081 llsylldllp pldclnrllp aadlledqel qwplhggpel idpaglplpq paqswvwlvd
     1141 lertiallig rclggmlqgs pvspeeqdta ywmktplfsd gvemdtpqld kcmsclleva
     1201 lsgneeqkpf dyklrpeiav yvdlalgcsk eparslwism qdyavskdwd satlsnesll
     1261 dtvsrfvlaa llkhtnllsq acgesryqpg khlsevyrcv ykvrsrllac knleliqtrs
     1321 ssrdrwisen qdsadvdpqe hsftrtidee aemeeqaerd reeghpeped eeeerehevm
     1381 tagkifqcfl sarevarsrd rdrmnsgags garaddpppq sqqerrvstd lpegqdvyta
     1441 acnsvihrca llilgvspvi delqkrreeg qlqqpstsas eggglmtrse sltaesrlvh
     1501 tspnyrliks rsesdlsqpe sdeegyalsg rrnvdldlaa shrkrgpmhs qleslsdswa
     1561 rlkhsrdwlc nssysfesdf dltkslgvht lienvvsfvs gdvgnapgfk epeesmstsp
     1621 qasiiameqq qlraelrlea lhqilvllsg meekgsisla gsrlssgfqs stlltsvrlq
     1681 flagcfglgt vghtggkges grlhhyqdgi raakrniqie iqvavhkiyq qlsatleral
     1741 qankhhieaq qrlllvtvfa lsvhyqpvdv slaistglln vlsqlcgtdt mlgqplqllp
     1801 ktgvsqlsta lkvastrllq ilaittgtya dklspkvvqs lldllcsqlk nllsqtgvlh
     1861 masfgegeqe dgeeeekkvd ssgetekkdf raalrkqhaa elhlgdflvf lrrvvsskai
     1921 qskmaspkwt evllniasqk cssgiplvgn lrtrllalhv leavlpaces gveddqmaqi
     1981 verlfsllsd cmwetpiaqa khaiqikeke qeiklqqgel eeedenlpiq evsfdpekaq
     2041 cclvengqil thgsggkgyg lastgvtsgc yqwkfyivke nrgnegtcvg vsrwpvhdfn
     2101 hrttsdmwly raysgnlyhn geqtltlssf tqgdfitcvl dmeartisfg kngeepklaf
     2161 edvdaaelyp cvmfyssnpg ekvkicdmqm rgtprdllpg dpicspvaav laeatiqlir
     2221 ilhrtdrwty cinkkmmerl hkikicikes gqklkksrsv qsreenemre ekeskeeekg
     2281 khtrhgladl selqlrtlci evwpvlavig gvdaglrvgg rcvhkqtgrh atllgvvkeg
     2341 stsakvqwde aeitisfptf wspsdtplyn lepceplpfd varfrgltas vlldltyltg
     2401 vhedmgkqst krhekkhrhe seekgdveqk pesesaldmr tgltsddvks qsttssksen
     2461 eiasfsldpt lpsvesqhqi tegkrknheh msknhdvaqs eiravqlsyl ylgamkslsa
     2521 llgcskyael llipkvlaen ghnsdcassp vvhedvemra alqflmrhmv kravmrspik
     2581 ralgladler aqamiyklvv hglledqfgg kikqeidqqa eesdpaqqaq tpvttspsas
     2641 sttsfmsssl edtttattpv tdtetvpase spgvmplsll rqmfssyptt tvlptrraqt
     2701 ppisslptsp sdevgrrqsl tspdsqsarp anrtalsdps srlstspppp aiavpllemg
     2761 fslrqiakam eatgargead aqnitvlamw miehpghede eepqsgstad srpgaavlgs
     2821 ggksndpcyl qspgdipsad aaemeegfse spdnldhten aasgsgpsar grsavtrrhk
     2881 fdlaartlla raaglyrsvq ahrnqsrreg islqqdpgal ydfnldeele idlddeamea
     2941 mfgqdltsdn dilgmwipev ldwptwhvce sedreevvvc elcecsvvsf nqhmkrnhpg
     3001 cgrsanrqgy rsngsyvdgw fggecgsgnp yyllcgtcre kylamktksk stsserykgq
     3061 apdligkqds vyeedwdmld vdedekltge eefellagpl glndrrivpe pvqfpdsdpl
     3121 gasvamvtat nsmeetlmqi elcfsgchgs veksssgrit lgeqaaalan phdrvvalrr
     3181 vtaaaqvlla rtmvmralsl lsvsgsscsl aagleslglt dirtlvrlmc laaagragls
     3241 tspsamasts ersrgghska nkpisclayl stavgclasn apsaakllvq lctqnlisaa
     3301 tgvnlttvdd siqrkflpsf lrgiaeenkl vtspnfvvtq alvalladkg aklrpnydks
     3361 evekkgliaq lyahpsydps avgplelana laacclssrl ssqhrqwaaq qlvrtlaahd
     3421 rdnqttlqtl admggdlrkc sfikleahqn rvmtcvwcnk kgllatsgnd gtirvwnvtk
     3481 kqyslqqtcv fnrlegdaee slgspsdpsf spvswsisgk ylagalekmv niwqvnggkg
     3541 lvdiqphwvs alawpeegpa tawsgespel llvgrmdgsl glievvdvst mhrrelehcy
     3601 rkdvsvtcia wfsedrpfav gyfdgklllg tkeplekggi vlidahkdtl ismkwdptgh
     3661 ilmtcakeds vklwgsisgc wcclhslchp sivngiawcr lpgkgsklql lmatgcqsgl
     3721 vcvwripqdt tqtnvtsaeg wweqesncqd gyrkssgakc vyqlrghitp vrtvafssdg
     3781 lalvsgglgg lmniwslrdg svlqtvvigs gaiqttvwip evgvaacsnr skdvlvvnct
     3841 aewaaanhvl atcrtalkqq gvlglnmapc mraflerlpm mlqeqyayek phvvcgdqlv
     3901 hspymqclas lavglhldql lcnppvpphh qnclpdpasw npnewawlec fsttikaaea
     3961 ltngaqfpes ftvpdlepvp edelvflmdn skwingmdeq imswatsrpe dwhlggkcdv
     4021 ylwgagrhgq laeagrnvmv paaapsfsqa qqvicgqnct fviqangtvl acgegsygrl
     4081 gqgnsddlhv ltvisalqgf vvtqlvtscg sdghsmalte sgevfswgdg dygklghgns
     4141 drqrrprqie alqgeevvqm scgfkhsavv tsdgklftfg ngdygrlglg ntsnkklper
     4201 vtalegyqig qvacglnhtl avsadgsmvw afgdgdygkl glgnstakss pqkidvlcgi
     4261 gikkvacgtq fsvaltkdgh vytfgqdrli glpegrarnh nrpqqipvla gviiedvavg
     4321 aehtlalasn gdvyawgsns egqlglghtn hvreptlvtg lqgknvrqis agrchsaawt
     4381 appvpprapg vsvplqlglp dtvppqygal revsihtvra rlrllyhfsd lmysswrlln
     4441 lspnnqnsts hynagtwgiv qgqlrpllap rvytlpmvrs igktmvqgkn ygpqitvkri
     4501 strgrkckpi fvqiarqvvk lnasdlrlps rawkvklvge gaddaggvfd dtitemcqel
     4561 etgivdllip spnataevgy nrdrflfnps acldehlmqf kflgilmgva irtkkpldlh
     4621 laplvwkqlc cvpltledle evdllyvqtl nsilhiedsg iteesfhemi pldsfvgqsa
     4681 dgkmvpiipg gnsipltfsn rkeyveraie yrlhemdrqv aavregmswi vpvpllsllt
     4741 akqleqmvcg mpeisvevlk kvvryrevde qhqlvqwfwh tleefsneer vlfmrfvsgr
     4801 srlpantadi sqrfqimkvd rpydslptsq tcffqlrlpp yssqlvmaer lryainncrs
     4861 idmdnymlsr nvdnaegsdt dy
//
LOCUS       XP_011521349             668 aa            linear   PRI 20-MAR-2023
DEFINITION  bromodomain-containing protein 7 isoform X2 [Homo sapiens].
ACCESSION   XP_011521349
VERSION     XP_011521349.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523047.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..668
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..668
                     /product="bromodomain-containing protein 7 isoform X2"
                     /calculated_mol_wt=76005
     Region          152..249
                     /region_name="Bromo_brd7_like"
                     /note="Bromodomain, brd7_like subgroup. The BRD7 gene
                     encodes a nuclear protein that has been shown to inhibit
                     cell growth and the progression of the cell cycle by
                     regulating cell-cycle genes at the transcriptional level.
                     BRD7 has been identified as a gene...; cd05513"
                     /db_xref="CDD:99945"
     Site            order(177,182,185,224,228,234)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99945"
     Region          315..502
                     /region_name="DUF3512"
                     /note="Domain of unknown function (DUF3512); pfam12024"
                     /db_xref="CDD:432270"
     CDS             1..668
                     /gene="BRD7"
                     /gene_synonym="BP75; CELTIX1; NAG4; SMARCI1"
                     /coded_by="XM_011523047.3:215..2221"
                     /db_xref="GeneID:29117"
                     /db_xref="HGNC:HGNC:14310"
                     /db_xref="MIM:618489"
ORIGIN      
        1 mgkkhkkhks dkhlyeeyve kplklvlkvg gnevtelstg ssghdsslfe dkndhdkhkd
       61 rkrkkrkkge kqipgeekgr krrrvkvqvv tllwlcgrhc lfqedkkkrd rdrveneaek
      121 dlqchapvrl dlppekplts slakqeeveq tplqealnql mrqlqrkdps affsfpvtdf
      181 iapgysmiik hpmdfstmke kiknndyqsi eelkdnfklm ctnamiynkp etiyykaakk
      241 llhsgmkils qeriqslkqs idfmadlqkt rkqkdgtdts qsgedggcwq reredsgdae
      301 ahafkspske nkkkdkdmle dkfksnnler eqeqldrivk esggkltrrl vnsqceferr
      361 kpdgtttlgl lhpvdpivge pgycpvrlgm ttgrlqsgvn tlqgfkedkr nkvtpvlyln
      421 ygpyssyaph ydstfanisk ddsdliysty gedsdlpsdf siheflatcq dypyvmadsl
      481 ldvltkgghs rtlqememsl pedeghtrtl dtakemeite veppgrldss tqdrlialka
      541 vtnfgvpvev fdseeaeifq kkldettrll relqeaqner lstrpppnmi cllgpsyrem
      601 hlaeqvtnnl kelaqqvtpg divstygvrk amgisipspv mennfvdlte dteepkktdv
      661 aecgpggs
//
LOCUS       XP_016878888             251 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-coupled neutral amino acid transporter 7 isoform X5 [Homo
            sapiens].
ACCESSION   XP_016878888
VERSION     XP_016878888.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017023399.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..251
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..251
                     /product="sodium-coupled neutral amino acid transporter 7
                     isoform X5"
                     /calculated_mol_wt=26876
     Region          49..>220
                     /region_name="SLC5-6-like_sbd"
                     /note="Solute carrier families 5 and 6-like; solute
                     binding domain; cl00456"
                     /db_xref="CDD:444915"
     CDS             1..251
                     /gene="SLC38A7"
                     /gene_synonym="SNAT7"
                     /coded_by="XM_017023399.3:394..1149"
                     /db_xref="GeneID:55238"
                     /db_xref="HGNC:HGNC:25582"
                     /db_xref="MIM:614236"
ORIGIN      
        1 maqvsinndy sewdlstdag erarllqspc vdtapksewe aspggldrgt tstlgaifiv
       61 vnaclgagll nfpaafstag gvaagialqm gmlvfiisgl vilaycsqas nertyqevvw
      121 avcgkltgvl cevaiavytf gtciafliii gdqqdkiiav makepegasg pwytdrkfti
      181 sltaflfilp lsipreigfq kyasflsvvg twyvtaivii kyiwpdkemt pgniltrylp
      241 letgvevisp p
//
LOCUS       XP_011521037             490 aa            linear   PRI 20-MAR-2023
DEFINITION  membrane-associated tyrosine- and threonine-specific
            cdc2-inhibitory kinase isoform X3 [Homo sapiens].
ACCESSION   XP_011521037
VERSION     XP_011521037.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011522735.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..490
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..490
                     /product="membrane-associated tyrosine- and
                     threonine-specific cdc2-inhibitory kinase isoform X3"
                     /calculated_mol_wt=53411
     Region          99..348
                     /region_name="PKc_Myt1"
                     /note="Catalytic domain of the Dual-specificity protein
                     kinase, Myt1; cd14050"
                     /db_xref="CDD:270952"
     Site            order(107..111,115,128,130,162,178..181,184,186,224,226,
                     228..229,231,242,245,260..263)
                     /site_type="active"
                     /db_xref="CDD:270952"
     Site            order(107..111,115,128,130,162,178..181,184,224,226,
                     228..229,231,242)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270952"
     Site            order(111,184,186,224,226,228,245,260..263)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270952"
     Site            241..263
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270952"
     CDS             1..490
                     /gene="PKMYT1"
                     /gene_synonym="MYT1; PPP1R126"
                     /coded_by="XM_011522735.4:284..1756"
                     /db_xref="GeneID:9088"
                     /db_xref="HGNC:HGNC:29650"
                     /db_xref="MIM:602474"
ORIGIN      
        1 mpmptegtpp plsgtpipvp ayfrhaepgf slkrprglsr slpppppakg sipisrlfpp
       61 rtpgwhqlqp rrvsfrgeas etlqspgydp srpesffqqs fqrlsrlghg sygevfkvrs
      121 kedgrlyavk rsmspfrgpk drarklaevg shekvgqhpc cvrleqawee ggilylqtel
      181 cgpslqqhce awgaslpeaq vwgylrdtll alahlhsqgl vhldvkpani flgprgrckl
      241 gdfgllvelg tagagevqeg dprymapell qgsygtaadv fslgltilev acnmelphgg
      301 egwqqlrqgy lppeftagls selrsvlvmm lepdpklrat aeallalpvl rqprawgvlw
      361 cmaaealsrg walwqallal lcwlwhglah paswlqplgp patppgsppc sllldsslss
      421 nwdddslgps lspeavlart vgststprsr ctprdaldls dinsepprgs fpsfeprnll
      481 slfedtldpt
//
LOCUS       XP_011524348             196 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF125 isoform X2 [Homo sapiens].
ACCESSION   XP_011524348
VERSION     XP_011524348.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011526046.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..196
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..196
                     /product="E3 ubiquitin-protein ligase RNF125 isoform X2"
                     /calculated_mol_wt=22172
     Region          34..83
                     /region_name="RING-HC_RNF125"
                     /note="RING finger, HC subclass, found in RING finger
                     protein 125 (RNF125); cd16542"
                     /db_xref="CDD:438204"
     Region          94..126
                     /region_name="zf_C2HC_14"
                     /note="C2HC Zing finger domain; pfam18574"
                     /db_xref="CDD:436588"
     Region          141..>168
                     /region_name="zf-Di19"
                     /note="Drought induced 19 protein (Di19), zinc-binding;
                     pfam05605"
                     /db_xref="CDD:428539"
     CDS             1..196
                     /gene="RNF125"
                     /gene_synonym="TNORS; TRAC-1; TRAC1"
                     /coded_by="XM_011526046.4:40..630"
                     /db_xref="GeneID:54941"
                     /db_xref="HGNC:HGNC:21150"
                     /db_xref="MIM:610432"
ORIGIN      
        1 mgsvlstdsg ksapasatar alerrrdpel pvtsfdcavc levlhqpvrt rcghvfcrsc
       61 iatslknnkw tcpycraylp segvpatdva krmkseyknc aecdtlvcls emrahirtcq
      121 kyidkygplq eleetaarcv cpfcqrelye dslldhcith hrserrpvdf niieealirr
      181 vldrslleyv nhsntt
//
LOCUS       XP_047294322             444 aa            linear   PRI 20-MAR-2023
DEFINITION  single-stranded DNA-binding protein 4 isoform X3 [Homo sapiens].
ACCESSION   XP_047294322
VERSION     XP_047294322.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438366.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..444
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..444
                     /product="single-stranded DNA-binding protein 4 isoform
                     X3"
                     /calculated_mol_wt=45263
     Region          18..44
                     /region_name="LisH"
                     /note="Lissencephaly type-1-like homology motif;
                     smart00667"
                     /db_xref="CDD:128913"
     Region          82..369
                     /region_name="SSDP"
                     /note="Single-stranded DNA binding protein, SSDP;
                     pfam04503"
                     /db_xref="CDD:427984"
     CDS             1..444
                     /gene="SSBP4"
                     /coded_by="XM_047438366.1:252..1586"
                     /db_xref="GeneID:170463"
                     /db_xref="HGNC:HGNC:15676"
                     /db_xref="MIM:607391"
ORIGIN      
        1 myakggkgsa vpsdsqarek lalyvyeyll higaqksaqt flseirwekn itlgeppgfl
       61 hswwcvfwdl ycaapdrrea cehsgeakaf qdysaaaaps pvmgsmapgd tmaagsmaag
      121 ffqpfmsprf pggprptlrm psqppaglpg sqpllpgame pspraqghps mggpmqrvtp
      181 prgmasvgpq sygggmrppp nslagpglpa mnmgpgvrgp waspsgnsip ysssspgsyt
      241 vslskagspl grgcgmadeg pfltvpvscv qgppggggpp gtpimpspgd stnssenmyt
      301 imnpigqgag ranfplgpgp egpmaamsam ephhvngslg sgdmdglpks spgavaglsn
      361 apgtprddge maaagtflhp fpsesvsdcv dsppaaasgr rgwragpgga aggpeqdrdr
      421 ggpvlarddh ervmgrqpra slra
//
LOCUS       XP_005260110             156 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin-60S ribosomal protein L40 isoform X2 [Homo sapiens].
ACCESSION   XP_005260110
VERSION     XP_005260110.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005260053.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..156
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..156
                     /product="ubiquitin-60S ribosomal protein L40 isoform X2"
                     /calculated_mol_wt=17378
     Region          1..76
                     /region_name="Ubl_ubiquitin"
                     /note="ubiquitin-like (Ubl) domain found in ubiquitin;
                     cd01803"
                     /db_xref="CDD:340501"
     Site            order(6..9,11,34..37,40,42,44,46..49,68..76)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:340501"
     Site            order(8..12,31..35,40,42,44,46..49,68,70..76)
                     /site_type="other"
                     /note="E1 interaction site [polypeptide binding]"
                     /db_xref="CDD:340501"
     Region          79..154
                     /region_name="Ribosomal_L40e"
                     /note="Ribosomal L40e family; pfam01020"
                     /db_xref="CDD:395807"
     CDS             1..156
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
                     /coded_by="XM_005260053.4:40..510"
                     /db_xref="GeneID:7311"
                     /db_xref="HGNC:HGNC:12458"
                     /db_xref="MIM:191321"
ORIGIN      
        1 mqifvktltg ktitleveps dtienvkaki qdkegippdq qrlifagkql edgrtlsdyn
       61 iqkestlhlv lrlrggiiep slrqlaqkyn cdkmicrkyv csdawgavga agvgvcphpp
      121 llslcrcyar lhpravncrk kkcghtnnlr pkkkvk
//
LOCUS       XP_047301770             654 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-galactosidase-1-like protein isoform X1 [Homo sapiens].
ACCESSION   XP_047301770
VERSION     XP_047301770.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445814.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..654
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..654
                     /product="beta-galactosidase-1-like protein isoform X1"
                     /calculated_mol_wt=74027
     Region          38..353
                     /region_name="Glyco_hydro_35"
                     /note="Glycosyl hydrolases family 35; pfam01301"
                     /db_xref="CDD:396048"
     Region          527..605
                     /region_name="BetaGal_dom4_5"
                     /note="Beta-galactosidase jelly roll domain; pfam13364"
                     /db_xref="CDD:433148"
     CDS             1..654
                     /gene="GLB1L"
                     /coded_by="XM_047445814.1:439..2403"
                     /db_xref="GeneID:79411"
                     /db_xref="HGNC:HGNC:28129"
ORIGIN      
        1 mapkklsclr slllplsltl llpqadtrsf vvdrghdrfl ldgapfryvs gslhyfrvpr
       61 vlwadrllkm rwsglnaiqf yvpwnyhepq pgvynfngsr dliaflneaa lanllvilrp
      121 gpyicaewem gglpswllrk peihlrtsdp dflaavdswf kvllpkiypw lyhnggniis
      181 iqveneygsy racdfsymrh laglfrallg ekillfttdg peglkcgslr glyttvdfgp
      241 adnmtkiftl lrkyephgpl vnseyytgwl dywgqnhstr svsavtkgle nmlklgasvn
      301 mymfhggtnf gywngadkkg rflpittsyd ydapiseagd ptpklfalrd viskfqevpl
      361 gplpppspkm mlgpvtlhlv ghllafldll cprgpihsil pmtfeavkqd hgfmlyrtym
      421 thtifeptpf wvpnngvhdr ayvmvdgvfq gvvernmrdk lfltgklgsk ldilvenmgr
      481 lsfgsnssdf kgllkppilg qtiltqwmmf plkidnlvkw wfplqlpkwp ypqapsgptf
      541 ysktfpilgs vgdtflylpg wtkgqvwing fnlgrywtkq gpqqtlyvpr fllfprgaln
      601 kitlleledv plqpqvqfld kpilnststl hrthinslsa dtlsasepme lsgh
//
LOCUS       XP_011532460             542 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C3orf20 isoform X6 [Homo sapiens].
ACCESSION   XP_011532460
VERSION     XP_011532460.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534158.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..542
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..542
                     /product="uncharacterized protein C3orf20 isoform X6"
                     /calculated_mol_wt=60068
     Region          361..>512
                     /region_name="FAM194"
                     /note="FAM194 protein; pfam14977"
                     /db_xref="CDD:434362"
     CDS             1..542
                     /gene="C3orf20"
                     /coded_by="XM_011534158.3:411..2039"
                     /db_xref="GeneID:84077"
                     /db_xref="HGNC:HGNC:25320"
                     /db_xref="MIM:619992"
ORIGIN      
        1 msyiksnlel yqqytamapk llariskllm icqnagisvp kgirnifeft weelisdpsv
       61 ptpsdilgle vsfgaplvvl meptfvqvpt lkkplppppp apprpvllat tgaakrstls
      121 ptmarqvrth qetlnrfqqq sihlltellr lkmkamvesm svganpldit rrfveasqll
      181 hlnakemafn clistagrsg yssgqlwkes lanmsaigvn spyqliyhss taclsfslsa
      241 gkeakkkigk srttedvsmp plhrgvgtpa nslefsdpcp eareklqelc rhieaeratw
      301 kgrnisypmi lrnykakmps hlmlarkgds qtpglhyppt agaqtlspts hpssanhhfs
      361 qhcqegkapk kafkfhytfy dgssfvyyps gnvavcqipt ccrgrtitcl fndipgfsll
      421 alfntegqgc vhynlktscp yvlildeegg ttndqqgyvv hkwswtsrte tllsleykvn
      481 eemklkvlgq dsitvtftsl netvtltvsa nncphgmayd krvclplnip pkrrrknlfg
      541 sr
//
LOCUS       XP_011511818            1160 aa            linear   PRI 20-MAR-2023
DEFINITION  VPS10 domain-containing receptor SorCS2 isoform X7 [Homo sapiens].
ACCESSION   XP_011511818
VERSION     XP_011511818.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011513516.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1160
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1160
                     /product="VPS10 domain-containing receptor SorCS2 isoform
                     X7"
                     /calculated_mol_wt=128108
     Region          170..776
                     /region_name="VPS10"
                     /note="VPS10 domain; smart00602"
                     /db_xref="CDD:214740"
     Region          796..869
                     /region_name="PKD_4"
                     /note="PKD domain; pfam18911"
                     /db_xref="CDD:436824"
     CDS             1..1160
                     /gene="SORCS2"
                     /coded_by="XM_011513516.3:110..3592"
                     /db_xref="GeneID:57537"
                     /db_xref="HGNC:HGNC:16698"
                     /db_xref="MIM:606284"
ORIGIN      
        1 mahrgpsras kgpgptarap spgapppprs prsrplllll lllgacgaag rspepgrlgp
       61 haqltrvprs ppagraepgg gedrqargte pgapgpspgp apgpgedgap aagyrrwera
      121 aplagvasra qvslistsfv lkgdathnqa mvhwtgenss vililtkyyh admgkvless
      181 lwrssdfgts ytkltlqpgv ttvidnfyic ptnkrkvilv ssslsdrdqs lflsadegat
      241 fqkqpipffv etlifhpkee dkvlaytkes klyvssdlgk kwtllqervt kdhvfwsvsg
      301 vdadpdlvhv eaqdlggdfr yvtcaihncs ekmltapfag pidhgsltvq ddyiffkats
      361 anqtkyyvsy rrnefvlmkl pkyalpkdlq iistdesqvf vavqewyqmd tynlyqsdpr
      421 gvryalvlqd vrssrqaees vlidilevrg vkgvflanqk idgkvmtlit ynkgrdwdyl
      481 rppsmdmngk ptnckppdch lhlhlrwadn pyvsgtvhtk dtapglimga gnlgsqlvey
      541 keemyitsdc ghtwrqvfee ehhilyldhg gvivaikdts iplkilkfsv degltwsthn
      601 ftstsvfvdg llsepgdetl vmtvfghisf rsdwelvkvd frpsfsrqcg eedysswels
      661 nlqgdrcimg qqrsfrkrks tswcikgrsf tsaltsrvce crdsdflcdy gfersssses
      721 stnkcsanfw fnplsppddc algqtytssl gyrkvvsnvc eggvdmqqsq vqlqcpltpp
      781 rglqvsiqge avavrpgedv lfvvrqeqgd vlttkyqvdl gdgfkamyvn ltltgepirh
      841 ryespgiyrv svraentagh deavlfvqvn splqalylev vpviglnqev nltavllpln
      901 pnltvfywwi ghslqpllsl dnsvttrfsd tgdvrvtvqa acgnsvlqds rvlrvldqfq
      961 vmplqfskel daynpntpew redvglvvtr llsketsvpq ellvtvvkpg lptladlyvl
     1021 lppprptrkr slssdkrlaa iqqvlnaqki sfllrggvrv lvalrdtgtg aeqlgggggy
     1081 wavvvlfvig lfaagafily kfksrkrpgr tvyaqmhnek eqemtspvsh sedvqgavqg
     1141 nhsgvvlsin sremhsylvs
//
LOCUS       XP_047273601            1524 aa            linear   PRI 20-MAR-2023
DEFINITION  treacle protein isoform X4 [Homo sapiens].
ACCESSION   XP_047273601
VERSION     XP_047273601.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417645.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1524
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..1524
                     /product="treacle protein isoform X4"
                     /calculated_mol_wt=155799
     Region          6..37
                     /region_name="LisH"
                     /note="Lissencephaly type-1-like homology motif;
                     smart00667"
                     /db_xref="CDD:128913"
     Region          <157..535
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          388..904
                     /region_name="Treacle"
                     /note="Treacher Collins syndrome protein Treacle;
                     pfam03546"
                     /db_xref="CDD:427362"
     CDS             1..1524
                     /gene="TCOF1"
                     /gene_synonym="MFD1; TCS; TCS1; treacle"
                     /coded_by="XM_047417645.1:51..4625"
                     /db_xref="GeneID:6949"
                     /db_xref="HGNC:HGNC:11654"
                     /db_xref="MIM:606847"
ORIGIN      
        1 maearkrrel lpliyhhllr agyvraarev keqsgqkcfl aqpvtlldiy thwqqtselg
       61 rkrkaeedaa lqakktrvsd pistsessee eeeaeaetak atprlastns svlgadlpss
      121 mkekakaete kagktgnsmp hpatgktvan llsgksprks aepsanttlv seteeegsvp
      181 afgaaakpgm vsagqadsss edtssssdet dvegkpsvkp aqvkassvst kesparkaap
      241 apgkvgdvtp qvkggalppa krakkpeees esseegsese eeapagtrsq vkasekilqv
      301 raasapakgt pgkgatpapp gkagavasqt kagkpeedse ssseessdse eetpaakall
      361 qakasgktsq vgaasapake sprkgaapap pgktgpavak aqagkreeds qssseesdse
      421 eeapaqakps gkapqvraas apakesprkg aapapprktg paaaqvqvgk qeedsrssse
      481 esdsdreala amnaaqvkpl gkspqvkpas tmgmgplgkg agpvppgkvg patpsaqvgk
      541 weedsessse essdssdgev ptavapaqek slgnilqakp tsspakgppq kagpvavqvk
      601 aekpmdnses seessdsads eeapaamtaa qakpalkipq tkacpkktnt tasakvapvr
      661 vgtqaprkag tatspagssp avaggtqrpa edsssseesd seeektglav tvgqaksvgk
      721 glqvkaasvp vkgslgqgta pvlpgktgpt vtqvkaekqe dsesseeesd seeaaaspaq
      781 vktsvkktqa kanpaaarap sakgtisapg kvvtaaaqak qrspskvkpp vrnpqnstvl
      841 argpasvpsv gkavataaqa qtgpeedsgs seeesdseee aetlaqvkps gkthqiraal
      901 apakesprkg aaptppgktg psaaqagkqd dsgssseesd sdgeapaavt saqdsnskpa
      961 rsktlapapp erntegsses seeelpltqv ikpplifvdp nrspagpaat paqaqaastp
     1021 rkarasesta rssssesede dvipatqclt pgirtnvvtm ptahpriapk asmagasssk
     1081 essrisdgkk qegpatqvsk knpaslpltq aalkvlaqka seaqppvart qpssgvdsav
     1141 gtlpatspqs tsvqakgtnk lrkpklpevq qatkapessd dsedssdsss gseedgegpq
     1201 gaksahtlgp tpsrtetlve etaaessedd vvapsqslls gymtpgltpa nsqaskatpk
     1261 ldsspsvsst laakddpdgk qeakpqqaag mlspktggke aasgttpqks rkpkkgagnp
     1321 qastlalqsn itqcllgqpw plneaqvqas vvkvltelle qerkkvvdtt kessrkgwes
     1381 rkrklsgdqp aartprskkk kklgagegge asvspektst tskgkakrdk asgdvkekkg
     1441 kgslgsqgak depeeelqkg mgtveggdqs npkskkekkk sdkrkkdkek kekkkkakka
     1501 stkdsespsq kkkkkkkkta eqtv
//
LOCUS       XP_047278784             618 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 39B isoform X1 [Homo sapiens].
ACCESSION   XP_047278784
VERSION     XP_047278784.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422828.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..618
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..618
                     /product="tetratricopeptide repeat protein 39B isoform X1"
                     /calculated_mol_wt=70236
     Region          78..534
                     /region_name="DUF3808"
                     /note="Protein of unknown function (DUF3808); pfam10300"
                     /db_xref="CDD:431204"
     Region          530..594
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     CDS             1..618
                     /gene="TTC39B"
                     /gene_synonym="C9orf52"
                     /coded_by="XM_047422828.1:140..1996"
                     /db_xref="GeneID:158219"
                     /db_xref="HGNC:HGNC:23704"
                     /db_xref="MIM:613574"
ORIGIN      
        1 mflvqrasas isvsrcsala nlminffqss hsdmatsslh fascdtqqap rqrgastvss
       61 ssstkvdlks gleecavaln lflsnkftda lellrpwake smyhalgyst ivvlqavltf
      121 eqqdiqngis amkdalqtcq kyrkkytvve sfssllsrgs leqlseeemh aeicyaecll
      181 qkaaltfvqd enminfikgg lkirtsyqiy keclsilhei qknklqqeff yefeggvklg
      241 sgafnlmlsl lpariirlle figfsgnrel gllqlregas grsmrsalcc ltilafhtyi
      301 slilgtgevn vaeaerllap flqqfpngsl vlfyhariel lkgnleeaqe vfqkcisvqe
      361 ewkqfhhlcy welmwinvfq qnwmqayyys dllckeskws katyvflkaa ilsmlpeedv
      421 vatnenvvtl frqvdslkqr iagksiptek favrkarrys aslpapvkli lpalemmyvw
      481 ngfsivskrk dlsenllvtv ekaeaalqsq nfnsfsvdde clvkllkgcc lknlqrplqa
      541 elcynhvves ekllkydhyl vpftlfelas lyksqgeidk aikfletarn nykdyslesr
      601 lhfriqaalh lwrkpssd
//
LOCUS       XP_047279172             284 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box/WD repeat-containing protein 2 isoform X5 [Homo sapiens].
ACCESSION   XP_047279172
VERSION     XP_047279172.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423216.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..284
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..284
                     /product="F-box/WD repeat-containing protein 2 isoform X5"
                     /calculated_mol_wt=32007
     Region          87..126
                     /region_name="F-box_FBXW2"
                     /note="F-box domain found in F-box/WD repeat-containing
                     protein 2 (FBXW2) and similar proteins; cd22131"
                     /db_xref="CDD:438903"
     Site            order(92,96,99..100,103..104,108,110..111,115..117,119)
                     /site_type="other"
                     /note="putative Skp1 binding site [polypeptide binding]"
                     /db_xref="CDD:438903"
     Region          172..>260
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          221..255
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..284
                     /gene="FBXW2"
                     /gene_synonym="FBW2; Fwd2; Md6"
                     /coded_by="XM_047423216.1:359..1213"
                     /db_xref="GeneID:26190"
                     /db_xref="HGNC:HGNC:13608"
                     /db_xref="MIM:609071"
ORIGIN      
        1 mkcdevvyev qsailrhncg yamktgkffh nlmerkdfet wldnisvtfl sltdlqknet
       61 ldhlislsga vqlrhlsnnl etllkrdflk llplelsfyl lkwldpqtll tcclvskqwn
      121 kvisactevw qtacknlgwq iddsvqdalh wkkvylkail rmkqledhea fetsslighs
      181 arvyalyykd gllctgsddl saklwdvstg qcvygiqtht caavkfdeqk lvtgsfdntv
      241 acwewssgar tqhfrghtga gpisniassl kssliplgrv shsp
//
LOCUS       XP_047279317             700 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA excision repair protein ERCC-6-like 2 isoform X8 [Homo
            sapiens].
ACCESSION   XP_047279317
VERSION     XP_047279317.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423361.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..700
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..700
                     /product="DNA excision repair protein ERCC-6-like 2
                     isoform X8"
                     /calculated_mol_wt=79701
     Region          29..84
                     /region_name="Tudor_ERCC6L2"
                     /note="Tudor domain found in DNA excision repair protein
                     ERCC-6-like 2 (ERCC6L2) and similar proteins; cd20400"
                     /db_xref="CDD:410471"
     Site            order(39,44,46,67,71)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410471"
     Region          <70..661
                     /region_name="HepA"
                     /note="Superfamily II DNA or RNA helicase, SNF2 family
                     [Transcription, Replication, recombination and repair];
                     COG0553"
                     /db_xref="CDD:223627"
     Region          134..382
                     /region_name="DEXHc_ERCC6L2"
                     /note="DEXH-box helicase domain of ERCC6L2; cd18005"
                     /db_xref="CDD:350763"
     Site            order(161..167,226,283..284)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350763"
     CDS             1..700
                     /gene="ERCC6L2"
                     /gene_synonym="BMFS2; C9orf102; HEBO; RAD26L; SR278"
                     /coded_by="XM_047423361.1:316..2418"
                     /db_xref="GeneID:375748"
                     /db_xref="HGNC:HGNC:26922"
                     /db_xref="MIM:615667"
ORIGIN      
        1 mqpgsapppg rmdpsapqpr aetsgkdiwh pgerclapsp dngklceasi ksitvdengk
       61 sfavvlyadf qerkiplkql qevkfvkdcp rnlifddedl ekpyfpnrkf psssvafkls
      121 dngdsipyti nrylrdyqre gtrflyghyi hgggcilgdd mglgktvqvi sflaavlhkk
      181 gtrediennm pefllrsmkk eplsstakkm flivaplsvl ynwkdeldtw gyfrvtvlhg
      241 nrkdnelirv kqrkceialt tyetlrlcld elnslewsav ivdeahrikn pkarvtevmk
      301 alkcnvrigl tgtilqnnmk elwcvmdwav pgllgsgtyf kkqfsdpveh gqrhtatkre
      361 latgrkamqr lakkmsgwfl rrtktlikdq lpkkedrmvy csltdfqkav yqtvletedv
      421 tlilqssepc tcrsgqkrrn ccyktnshge tvktlylsyl tvlqkvanhv allqaastsk
      481 qqetlikric dqvfsrfpdf vqkskdaafe tlsdpkysgk mkvlqqllnh crknrdkvll
      541 fsfstklldv lqqycmasgl dyrrldgstk seerlkivke fnstqdvnic lvstmagglg
      601 lnfvganvvv lfdptwnpan dlqaidrayr igqcrdvkvl rlislgtvee imylrqiykq
      661 regqveagim tattwlkegp pahklemrdw khllddsklq
//
LOCUS       XP_011529585             292 aa            linear   PRI 20-MAR-2023
DEFINITION  PABIR family member 2 isoform X2 [Homo sapiens].
ACCESSION   XP_011529585
VERSION     XP_011529585.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011531283.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..292
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..292
                     /product="PABIR family member 2 isoform X2"
                     /calculated_mol_wt=32029
     CDS             1..292
                     /gene="PABIR2"
                     /gene_synonym="FAM122B; SPACIA2"
                     /coded_by="XM_011531283.3:1001..1879"
                     /db_xref="GeneID:159090"
                     /db_xref="HGNC:HGNC:30490"
ORIGIN      
        1 maqekmeldl epdtsyggtl rrsssaplih glsdlsqvfq pytlrtrrns ttimsrhslv
       61 siellssspn ripssrlhqi kreegldmvn retaheremq tamqisqswd eslslsdsdf
      121 dkpeklyspk ridftpvspa psptrgfgkm fvsssglpps pvpsprrfsr rsqspvkcir
      181 psvlgplkrk gemetesqpk rlfqgttnml spdaaqlsdl sscsdildgs ssssglssdp
      241 lakgsataes pvacsnscss filmddlspk wcyqgeeipa ltrcvehlqm ne
//
LOCUS       XP_054184416             413 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 10 isoform X2 [Homo sapiens].
ACCESSION   XP_054184416
VERSION     XP_054184416.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328441.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167244.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..413
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..413
                     /product="tripartite motif-containing protein 10 isoform
                     X2"
                     /calculated_mol_wt=47462
     CDS             1..413
                     /gene="TRIM10"
                     /gene_synonym="HERF1; RFB30; RNF9"
                     /coded_by="XM_054328441.1:271..1512"
                     /db_xref="GeneID:10107"
                     /db_xref="HGNC:HGNC:10072"
                     /db_xref="MIM:605701"
ORIGIN      
        1 maerlewhlh svtqsptcpq knissdsgql tyhhfpstgt lrepvtidcg hnfcracltr
       61 yceipgpdle esptcplcke pfrpgsfrpn wqlanvveni erlqlvstlg lgeedvcqeh
      121 gekiyffced demqlcvvcr eagehathtm rfledaaapy reqihkclkc lrkereeiqe
      181 iqsrenkrmq vlltqvstkr qqvisefahl rkfleeqqsi llaqlesqdg dilrqrdefd
      241 llvageicrf salieeleek nerparellt dirstlirce trkcrkpvav spelgqrird
      301 fpqqalplqr emkmfleklc feldyepahi sldpqtshpk lllsedhqra qfsykwqnsp
      361 dnpqrfdrat cvlahtgitg grhtwvwmar vpgdsgccqf csppsvlgte vaa
//
LOCUS       XP_054185013             754 aa            linear   PRI 20-MAR-2023
DEFINITION  gamma-tubulin complex component 5 isoform X6 [Homo sapiens].
ACCESSION   XP_054185013
VERSION     XP_054185013.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329038.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187603.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..754
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.2"
     Protein         1..754
                     /product="gamma-tubulin complex component 5 isoform X6"
                     /calculated_mol_wt=86590
     CDS             1..754
                     /gene="TUBGCP5"
                     /gene_synonym="GCP5"
                     /coded_by="XM_054329038.1:88..2352"
                     /db_xref="GeneID:114791"
                     /db_xref="HGNC:HGNC:18600"
                     /db_xref="MIM:608147"
ORIGIN      
        1 msclrsvleq iaaygqvvfr lqefidevmg hssesmlpgs gsvpkkstea pfrtyqafmw
       61 alykyfisfk eelaeiekci inndttitla ivvdklaprl sqlkvlhkvf stgvaevppd
      121 trnvvrashl lntlykaile ydnvgeaseq tvsllfslwv etvrpylqtv dewivhghlw
      181 dgarefiiqr nknvpvnhrd fwyatytlys vsekteneek msdnasassg sdqgpssrqh
      241 tmvsflkpvl kqiimagksm qllknlqcae sttcqagard aerkslytlf lesvqsrlrh
      301 gedstpqvlt eqqatkenlm kmqsiaeshl elddvhdpll ainfarmyle qsdfhekfag
      361 gdvcvdrsse svtcqtfelt lrsclyphid kqyldccgnl mqtlkkdyrl veylqamrnf
      421 flmeggdtmy dfytsifdki reketwqnvs flnvqlqeav gqrypedssr lsisfenvdt
      481 akkklpvhil dgltlsykvp wpvdivisle cqkiynqvfl lllqikwaky sldvllfgel
      541 vstaekprlk egliheqdtv aqfgpqkepv rqqihrmfll rvklmhfvns lhnyimtril
      601 hstglefqhq veeakdldql ikihyrylst ihdrcllrek vsfvkeaimk vlnlalmfad
      661 gwqaglgtwr mesiekmesd fknchmflvt ilnkavcrgs fphygislce shsiaqagvq
      721 whnlsslqpl ppelkqsahl dlpkcwdyrp vctl
//
LOCUS       XP_054187372            1125 aa            linear   PRI 20-MAR-2023
DEFINITION  large proline-rich protein BAG6 isoform X10 [Homo sapiens].
ACCESSION   XP_054187372
VERSION     XP_054187372.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331397.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167249.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1125
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1125
                     /product="large proline-rich protein BAG6 isoform X10"
                     /calculated_mol_wt=118434
     CDS             1..1125
                     /gene="BAG6"
                     /gene_synonym="BAG-6; BAT3; D6S52E; G3"
                     /coded_by="XM_054331397.1:163..3540"
                     /db_xref="GeneID:7917"
                     /db_xref="HGNC:HGNC:13919"
                     /db_xref="MIM:142590"
ORIGIN      
        1 mepndststa veepdslevl vktldsqtrt fivgaqmnvk efkehiaasv sipsekqrli
       61 yqgrvlqddk klqeynvggk vihlverapp qthlpsgass gtgsasathg ggsppgtrgp
      121 gasvhdrnan syvmvgtfnl psdgsavdvh inmeqapiqs eprvrlvmaq hmirdiqtll
      181 srmecrggpq pqhsqpppqp pavtpepval ssqtsepves eapprepmea eeveerapaq
      241 npeltpgpap agptpapetn apnhpspaey vevlqelqrl esrlqpflqr yyevlgaaat
      301 tdynnnhegr eedqrlinlv geslrllgnt fvalsdlrcn lactpprhlh vvrpmshytt
      361 pmvlqqaaip iqinvgttvt mtgngtrppp tpnaeapppg pgqassvaps stnvessaeg
      421 apppgpappp atshprviri shqsvepvvm mhmniqdsgt qpggvpsapt gplgppghgq
      481 tlgqqvpgfp taptrvviar ptppqarpsh pggppvsgtl gaglgtnasl aqmvsglvgq
      541 llmqpvlvaq gtpgmapppa patasasagt tntattagpa pggpaqpppt pqpsmadlqf
      601 sqllgnllgp agpgaggsgv asptitvamp gvpaflqgmt dflqatqtap pppppppppp
      661 papeqqtmpp pgspsggags pgglglesls pefftsvvqg vlssllgslg aragssesia
      721 afiqrlsgss nifepgadga lgffgallsl lcqnfsmvdv vmllhghfqp lqrlqpqlrs
      781 ffhqhylggq eptpsnirma thtlitglee yvresfslvq vqpgvdiirt nleflqeqfn
      841 siaahvlhct dsgfgarlle lcnqglfecl alnlhclggq qmelaaving rirrmsrgvn
      901 pslvswlttm mglrlqvvle hmpvgpdail ryvrrvgdpp qplpeepmev qgaeraspep
      961 qrenaspapg ttaeeamsrg pppapeggsr deqdgasaet epwaaavppe wvpiiqqdiq
     1021 sqrkvkpqpp lsdaylsgmp akrrktmqge gpqlllseav sraakaagar pltspeslsr
     1081 dleapevqes yrqqlrsdiq krlqedpnys pqrfpnaqra faddp
//
LOCUS       XP_054188109             626 aa            linear   PRI 20-MAR-2023
DEFINITION  putative short-chain dehydrogenase/reductase family 42E member 2
            isoform X1 [Homo sapiens].
ACCESSION   XP_054188109
VERSION     XP_054188109.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332134.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_017852933.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..626
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3-12.2"
     Protein         1..626
                     /product="putative short-chain dehydrogenase/reductase
                     family 42E member 2 isoform X1"
                     /calculated_mol_wt=64166
     CDS             1..626
                     /gene="SDR42E2"
                     /coded_by="XM_054332134.1:96..1976"
                     /db_xref="GeneID:100288072"
                     /db_xref="HGNC:HGNC:35414"
ORIGIN      
        1 mksnpprssl eackaagqge kscpvcqacg evsgprsgsg sesrpapkpg aipgpglgpk
       61 aipgpqagsg tvprpgaisg tgpglgpgpg agsvpgpgag svpglgarsv pgpgagsvpg
      121 pgagsvpgpg agsvpgpgag sgpglggglg pgvgagpgag svpgpgagsv pgpgagsvpg
      181 pgagsvpgag agstpepelg pglrqgsgtg prpsestttp tpapqqktqa kptkaarqkv
      241 lvtggggylg fslgshlaks gtsvilldrr rpqwelspet kfiqadvrde ealyrafegv
      301 dcvfhvasyg msgaeklqke qiesinvggt klvidvcvrr rvprliytst vnvafggkpi
      361 eqgdedsvpy fpldehvdhy srtkaiadql tlmangmplp gggtlrtcvl rppgiygpee
      421 qrhlprvagh ikkrlfmfrf gdhkarmnwv hvhnlvqahv laaealttak gyvasgqayy
      481 indgesvnlf ewmaplfekl gysqpwiqvp tswvyltaav merlhlalrp icslpplltr
      541 sevrsvavth tfqiakaraq lgyapdkfrf adavelyvqs ttrrprgsta rtllrlllrl
      601 llflgllala lhflglqplh aaverl
//
LOCUS       XP_054190954             620 aa            linear   PRI 20-MAR-2023
DEFINITION  CREB-regulated transcription coactivator 2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054190954
VERSION     XP_054190954.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334979.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..620
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..620
                     /product="CREB-regulated transcription coactivator 2
                     isoform X2"
                     /calculated_mol_wt=65318
     CDS             1..620
                     /gene="CRTC2"
                     /gene_synonym="TORC-2; TORC2"
                     /coded_by="XM_054334979.1:148..2010"
                     /db_xref="GeneID:200186"
                     /db_xref="HGNC:HGNC:27301"
                     /db_xref="MIM:608972"
ORIGIN      
        1 mksgggrsyr pkncdwhtqg alimvglcpm ltrlalawps srapsthlwi hlgalgtmgw
       61 wngcseilee wcphfadtpa tltalpivlp tyllpqslag egrwpgaisl qrrgscfdyh
      121 lhltgildge mdpkvflfqv paieenlldd khllkpwdak klsssssrpr scevpginif
      181 pspdqpanvp vlppamntgg slpdltnlhf ppplptpldp eetaypslsg gnstsnltht
      241 mthlgisrgm glgpgydapg lhsplshpsl qsslsnpnlq aslsspqpql qgshshpslp
      301 asslarhvlp ttslghpsls apalssssss sstsspvlga psypastpga sphhrrvpls
      361 plsllagpad arrsqqqlpk qfsptmsptl ssitqgvpld tsklstdqrl ppypysspsl
      421 vlptqphtpk slqqpglpsq scsvqssggq ppgrqshygt pyppgpsghg qqsyhrpmsd
      481 fnlgnleqfs mespsaslvl dppgfsegpg flggegpmgg pqdphtfnhq nlthcsrhgs
      541 gpniiltgds spgfskeiaa alagvpgfev saaglelglg ledelrmepl gleglnmlsd
      601 pcallpdpav eesfrsdrlq
//
LOCUS       XP_054191481             332 aa            linear   PRI 20-MAR-2023
DEFINITION  flavin-containing monooxygenase 5 isoform X3 [Homo sapiens].
ACCESSION   XP_054191481
VERSION     XP_054191481.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335506.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..332
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..332
                     /product="flavin-containing monooxygenase 5 isoform X3"
                     /calculated_mol_wt=37425
     CDS             1..332
                     /gene="FMO5"
                     /gene_synonym="hBVMO1"
                     /coded_by="XM_054335506.1:91..1089"
                     /db_xref="GeneID:2330"
                     /db_xref="HGNC:HGNC:3773"
                     /db_xref="MIM:603957"
ORIGIN      
        1 mtkkriavig ggvsglssik ccveeglepv cfertddigg lwrfqenpee grasiyksvi
       61 intskemmcf sdypipdhyp nfmhnaqvle yfrmyakefd llkyirfktt vcsvkkqpdf
      121 atsgqwevvt esegkkemnv fdgvmvctgh htnahlples fpgiekfkgq yfhsrdyknp
      181 egftgkrvii igignsggdl aveisqtakq vflstrrgaw ilnrvgdygy padvlfssrl
      241 thfiwkicgq slankylekk inqrfdhemf glkpkhrfir henlwflrgl lsghvngflq
      301 aghgasssqg sglrpdaqgg setlfrirrg cv
//
LOCUS       XP_054194428             231 aa            linear   PRI 20-MAR-2023
DEFINITION  bone morphogenetic protein 8B isoform X6 [Homo sapiens].
ACCESSION   XP_054194428
VERSION     XP_054194428.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338453.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..231
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..231
                     /product="bone morphogenetic protein 8B isoform X6"
                     /calculated_mol_wt=25598
     CDS             1..231
                     /gene="BMP8B"
                     /gene_synonym="BMP8; OP2"
                     /coded_by="XM_054338453.1:381..1076"
                     /db_xref="GeneID:656"
                     /db_xref="HGNC:HGNC:1075"
                     /db_xref="MIM:602284"
ORIGIN      
        1 mtalpgplwl lglalcalgg ggpglrpppg cpqrrlgare rrdvqreila vlglpgrprp
       61 rappaasrlp asaplfmldl yhamagddde dgapaerrlg radlvmsfvn mverdralgh
      121 qephwkefrf dltqipagea vtaaefriyk vpsihllnrt lhvsmfqvvq eqsnresdlf
      181 fldlqtlrag degwlvldvt aasdcwllkr hkdlglrlyv etedaveddr i
//
LOCUS       XP_054226068             898 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF18A isoform X1 [Homo sapiens].
ACCESSION   XP_054226068
VERSION     XP_054226068.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370093.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..898
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..898
                     /product="kinesin-like protein KIF18A isoform X1"
                     /calculated_mol_wt=102150
     CDS             1..898
                     /gene="KIF18A"
                     /gene_synonym="MS-KIF18A; PPP1R99"
                     /coded_by="XM_054370093.1:737..3433"
                     /db_xref="GeneID:81930"
                     /db_xref="HGNC:HGNC:29441"
                     /db_xref="MIM:611271"
ORIGIN      
        1 msvteedlch hmkvvvrvrp entkekaagf hkvvhvvdkh ilvfdpkqee vsffhgkktt
       61 nqnvikkqnk dlkfvfdavf detstqsevf ehttkpilrs flngynctvl aygatgagkt
      121 htmlgsadep gvmyltmlhl ykcmdeikee kicstavsyl evyneqirdl lvnsgplavr
      181 edtqkgvvvh gltlhqpkss eeilhlldng nknrtqhptd mnatssrsha vfqiylrqqd
      241 ktasinqnvr iakmslidla gserastsga kgtrfvegtn inrsllalgn vinaladskr
      301 knqhipyrns kltrllkdsl ggncqtimia avspssvfyd dtyntlkyan rakdiksslk
      361 snvlnvnnhi tqyvkicneq kaeilllkek lkayeeqkaf tnendqaklm isnpqekeie
      421 rfqeilnclf qnreeirqey lklemllken elksfyqqqc hkqiemmcse dkvekatgkr
      481 dhrlamlktr rsylekrree elkqfdentn wlhrvekemg llsqnghipk elkkdlhchh
      541 lhlqnkdlka qirhmmdlac lqeqqhrqte avlnallptl rkqyctlkea glsnaafesd
      601 fkeiehlver kkvvvwadqt aeqpkqndlp gisvlmtfpq lgpvqpipcc sssggtnlvk
      661 iptekrtrrk lmpsplkgqh tlksppsqsv qlndslskel qpivytpedc rkafqnpstv
      721 tlmkpssftt sfqaissnin sdnclkmlce vaiphnrrke cgqedldstf ticedikssk
      781 cklpeqeslp ndnkdilqrl dpssfstkhs mpvpsmvpsy mamttaakrk rkltsstsns
      841 sltadvnsgf akrvrqdnss ekhlqenkpt mehkrnicki npsmvrkfgr niskgnlr
//
LOCUS       XP_054229295             497 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-coupled neutral amino acid symporter 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054229295
VERSION     XP_054229295.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373320.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..497
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..497
                     /product="sodium-coupled neutral amino acid symporter 1
                     isoform X1"
                     /calculated_mol_wt=55303
     CDS             1..497
                     /gene="SLC38A1"
                     /gene_synonym="ATA1; NAT2; SAT1; SNAT1"
                     /coded_by="XM_054373320.1:407..1900"
                     /db_xref="GeneID:81539"
                     /db_xref="HGNC:HGNC:13447"
                     /db_xref="MIM:608490"
ORIGIN      
        1 mmhfksglel telqnmtvpe ddnisndsnd ftevengqin skfisdresr rsltnshlek
       61 kkcdeyipgt tslgmsvfnl snaimgsgil glafalantg illflvllts vtllsiysin
      121 lllicsketg cmvyeklgeq vfgttgkfvi fgatslqntg amlsylfivk nelpsaikfl
      181 mgkeetfsaw yvdgrvlvvi vtfgiilplc llknlgylgy tsgfslscmv fflivviykk
      241 fqipcivpel nstisanstn adtctpkyvt fnsktvyalp tiafafvchp svlpiyselk
      301 drsqkkmqmv snisffamfv myfltaifgy ltfydnvqsd llhkyqskdd ililtvrlav
      361 ivaviltvpv lfftvrsslf elakktkfnl crhtvvtcil lvvinllvif ipsmkdifgv
      421 vgvtsanmli filpsslylk itdqdgdkgt qriwfpvqpc wlseciillp aalslnmlkr
      481 keliilcsld sgfsnly
//
LOCUS       XP_047302045             142 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124902897 [Homo sapiens].
ACCESSION   XP_047302045
VERSION     XP_047302045.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047446089.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..142
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..142
                     /product="uncharacterized protein LOC124902897"
                     /calculated_mol_wt=15609
     CDS             1..142
                     /gene="LOC124902897"
                     /coded_by="XM_047446089.1:179..607"
                     /db_xref="GeneID:124902897"
ORIGIN      
        1 miviglrlpt afqighrkil sssnasihpl mfvpvslvld rkdallmlam lveplwsfsd
       61 mhrvgknies pgihvqlrln qqswnqgttg nhiltlqmit htphgrsgks sdapafqdnm
      121 mllyipwtmt sisvvevggl ma
//
LOCUS       XP_054230592             691 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane and coiled-coil domain-containing protein 3 isoform
            X2 [Homo sapiens].
ACCESSION   XP_054230592
VERSION     XP_054230592.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374617.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..691
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..691
                     /product="transmembrane and coiled-coil domain-containing
                     protein 3 isoform X2"
                     /calculated_mol_wt=76280
     CDS             1..691
                     /gene="TMCO3"
                     /gene_synonym="C13orf11"
                     /coded_by="XM_054374617.1:879..2954"
                     /db_xref="GeneID:55002"
                     /db_xref="HGNC:HGNC:20329"
                     /db_xref="MIM:617134"
ORIGIN      
        1 mitkssrdla envcltckls gaetrgllcp alrtwimkvl grsffwvlfp vlpwavqave
       61 heevaqrvik lhrgrgvaam qsrqwvrdsc rklsgllrqk navlnklkta igavekdvgl
      121 sdeeklfqvh tfeifqkeln esensvfqav yglqralqgd ykdvvnmkes srqrlealre
      181 aaikeeteym ellaaekhqv ealknmqhqn qslsmldeil edvrkaadrl eeeieehafd
      241 dnksvkgvnf eavlrveeee anskqnitkr eveddlglsm lidsqnnqyi ltkprdstip
      301 radhhfikdi vtigmlslpc gwlctaiglp tmfgyiicgv llgpsglnsi ksivqvetlg
      361 efgvfftlfl vglefspekl rkvwkislqg pcymtllmia fgllwghllr ikptqsvfis
      421 tclslsstpl vsrflmgsar gdkegdidys tvllgmlvtq dvqlglfmav mptliqagas
      481 asssivvevl rilvligqil fslaavfllc lvikkyligp yyrklhmesk gnkeililgi
      541 safiflmltv telldvsmel gcflagalvs sqgpvvteei atsiepirdf laivffasiv
      601 spggagpvsh saeeqpvhqv drlcgacpgq rvflcpgepg aksgrhlsgg vppytecdha
      661 qplarpgave scnhevcaqt getvqplmar r
//
LOCUS       XP_054170344             383 aa            linear   PRI 20-MAR-2023
DEFINITION  protein MTSS 2 isoform X14 [Homo sapiens].
ACCESSION   XP_054170344
VERSION     XP_054170344.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314369.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..383
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..383
                     /product="protein MTSS 2 isoform X14"
                     /calculated_mol_wt=42020
     CDS             1..383
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /coded_by="XM_054314369.1:263..1414"
                     /db_xref="GeneID:92154"
                     /db_xref="HGNC:HGNC:25094"
                     /db_xref="MIM:616951"
ORIGIN      
        1 metaekecga lgglfqaivn dmkssypiwe dfnskatklh sqlrttvlaa vafldafqkv
       61 admatntrga trdigsaltr mcmrhrsiet klrqftnall eslinplqer iedwkkaanq
      121 ldkdhakeyk rarheikkks sdtlklqkka rkellgkgdl qpqldsalqd vndmylllee
      181 tekqavrral ieergrfctf itflqpvvng eltmlgeith lqgiiddlvv ltaephklpp
      241 aseqvikdlk gsdyswsyqt ppsspsssss rkssmcsaps ssssakggga pwpggaqtys
      301 psstcryrsl aqpatttarl ssvsshdsgf vsqdatyskp pspmpsdits qeiwgsksrm
      361 iqraggrglp wlnlahsqan tsp
//
LOCUS       XP_054171190             864 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF18B isoform X2 [Homo sapiens].
ACCESSION   XP_054171190
VERSION     XP_054171190.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315215.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..864
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..864
                     /product="kinesin-like protein KIF18B isoform X2"
                     /calculated_mol_wt=94158
     CDS             1..864
                     /gene="KIF18B"
                     /coded_by="XM_054315215.1:537..3131"
                     /db_xref="GeneID:146909"
                     /db_xref="HGNC:HGNC:27102"
                     /db_xref="MIM:614570"
ORIGIN      
        1 msvrsvttvm avedstlqvv vrvrpptpre ldsqrrpvvq vvdervlvfn peepdggfpg
       61 lkwggthdgp kkkgkdltfv fdrvfgeaat qqdvfqhtth svldsflqgy ncsvfaygat
      121 gagkthtmlg regdpgimyl ttvelyrrle arqqekhfev lisyqevyne qihdllepkg
      181 plairedpdk gvvvqglsfh qpasaeqlle iltrgnrnrt qhptdanats srshaifqif
      241 vkqqdrvpgl tqavqvakms lidlagsera ssthakgerl reganinrsl lalinvlnal
      301 adakgrkthv pyrdskltrl lkdslggncr tvmiaaisps sltyedtynt lkyadrakei
      361 rlslksnvts ldchisqyat icqqlqaeva alrkklqvye gggqpppqdl pgspksgppp
      421 ehlpssplpp hppsqpctpe lpagpralqe eslgmeaqve ramegnssdq eqspededeg
      481 paeevptqmp eqnpthalpe sprltlqpkp vvghfsarel dgdrskqlal kvlcvaqrqy
      541 sllqaanllt pdmitefetl qqlvqeekie pgaealrtsg largaplaqe lcseskppgy
      601 tgpvtrtmar rlsgplhtlg ippgpnctpa qgsrwpmekk rrrpsalead spmapkrgtk
      661 rqrqsflpcl rrgslpdtqp sqgpstpkge rasspchspr icpatviksr vplgpsamqn
      721 cstplalptr dlnatfdlse eppskpsfhe cigwdkipqe lsrldqpfip rapvplftmk
      781 gpkptsslpg tsackkkrva sssvshgrsr iarlpsstlk rpagplvlpe lplsplcpsn
      841 rrngkdlirv gralsagngv tkvs
//
LOCUS       XP_054171570             335 aa            linear   PRI 20-MAR-2023
DEFINITION  bifunctional arginine demethylase and lysyl-hydroxylase JMJD6
            isoform X2 [Homo sapiens].
ACCESSION   XP_054171570
VERSION     XP_054171570.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315595.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..335
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..335
                     /product="bifunctional arginine demethylase and
                     lysyl-hydroxylase JMJD6 isoform X2"
                     /calculated_mol_wt=39110
     CDS             1..335
                     /gene="JMJD6"
                     /gene_synonym="PSR; PTDSR; PTDSR1"
                     /coded_by="XM_054315595.1:132..1139"
                     /db_xref="GeneID:23210"
                     /db_xref="HGNC:HGNC:19355"
                     /db_xref="MIM:604914"
ORIGIN      
        1 mnhkskkrir eakrsarpel kdsldwtrhn yyesfslspa avadnverad alqlsveefv
       61 eryerpykpv vllnaqegws aqekwtlerl krkyrnqkfk cgedndgysv kmkmkyyiey
      121 mestrddspl yifdssygeh pkrrklledy kvpkfftddl fqyagekrrp pyrwfvmgpp
      181 rsgtgihidp lgtsawnalv qghkrwclfp tstprelikv trdeggnqqd eaitwfnviy
      241 prtqlptwpp efkpleilqk pgetvfvpgg wwhvvlnldt tiaitqnfas stnfpvvwhk
      301 tvrgrpklsr kwyrystgsg sashpqppra tvsqp
//
LOCUS       XP_054200224             321 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor ATOH8 isoform X3 [Homo sapiens].
ACCESSION   XP_054200224
VERSION     XP_054200224.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344249.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..321
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..321
                     /product="transcription factor ATOH8 isoform X3"
                     /calculated_mol_wt=34481
     CDS             1..321
                     /gene="ATOH8"
                     /gene_synonym="bHLHa21; HATH6"
                     /coded_by="XM_054344249.1:200..1165"
                     /db_xref="GeneID:84913"
                     /db_xref="HGNC:HGNC:24126"
                     /db_xref="MIM:619820"
ORIGIN      
        1 mkhipvledg pwktvcvkel nglkklkrkg keparrangy ktfrldleap epravatngl
       61 rdrthrlqpv pvpvpvpvpv apavpprggt dtagerggsr apevsdarkr cfalgavgpg
      121 lptppppppp apqsqapggp eaqpfrepgp rprillcapp arpapsappa ppappestvr
      181 papptrpges syssishviy nnhqdssasp rkrpgeataa sseikalqqt rrllanarer
      241 trvhtisaaf ealrkqvpcy sygqklskla ilriacnyil slarladldy sadhsnlsfs
      301 ecvqrctrtl qaegrakkrk l
//
LOCUS       XP_054179075             514 aa            linear   PRI 20-MAR-2023
DEFINITION  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X1
            [Homo sapiens].
ACCESSION   XP_054179075
VERSION     XP_054179075.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323100.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..514
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..514
                     /product="1,25-dihydroxyvitamin D(3) 24-hydroxylase,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=58744
     CDS             1..514
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /coded_by="XM_054323100.1:408..1952"
                     /db_xref="GeneID:1591"
                     /db_xref="HGNC:HGNC:2602"
                     /db_xref="MIM:126065"
ORIGIN      
        1 msspisksrs laaflqqlrs prqpprlvts taytspqpre vpvcpltagg etqnaaalpg
       61 ptswpllgsl lqilwkgglk kqhdtlveyh kkygkifrmk lgsfesvhlg spcllealyr
      121 tesaypqrle ikpwkayrdy rkegygllil egedwqrvrs afqkklmkpg evmkldnkin
      181 evladfmgri delcderghv edlyselnkw sfesiclvly ekrfgllqkn agdeavnfim
      241 aiktmmstfg rmmvtpvelh kslntkvwqd htlawdtifk svkacidnrl ekysqqpsad
      301 flcdiyhqnr lskkelyaav telqlaavet tanslmwily nlsrnpqvqq kllkeiqsvl
      361 penqvpraed lrnmpylkac lkesmrltps vpfttrtldk atvlgeyalp kgtvlmlntq
      421 vlgssednfe dssqfrperw lqekekinpf ahlpfgvgkr mcigrrlael qlhlalcwiv
      481 rkydiqatdn epvemlhsgt lvpsrelpia fcqr
//
LOCUS       XP_054203707             732 aa            linear   PRI 20-MAR-2023
DEFINITION  short transient receptor potential channel 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054203707
VERSION     XP_054203707.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347732.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..732
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..732
                     /product="short transient receptor potential channel 1
                     isoform X1"
                     /calculated_mol_wt=84523
     CDS             1..732
                     /gene="TRPC1"
                     /gene_synonym="HTRP-1; TRP1"
                     /coded_by="XM_054347732.1:10961..13159"
                     /db_xref="GeneID:7220"
                     /db_xref="HGNC:HGNC:12333"
                     /db_xref="MIM:602343"
ORIGIN      
        1 mvkkileens sgdlnincvd vlgrnavtit ienenldilq llldygcqsa dallvaidse
       61 vvgavdilln hrpkrssrpt ivklmeriqn peysttmdva pvilaahrnn yeiltmllkq
      121 dvslpkphav gcectlcsak nkkdslrhsr frldiyrcla spalimltee dpilrafels
      181 adlkelslve vefrndyeel arqckmfakd llaqarnsre levilnhtss depldkrgll
      241 eermnlsrlk laikynqkef vsqsncqqfl ntvwfgqmsg yrrkptckki mtvltvgifw
      301 pvlslcylia pksqfgriih tpfmkfiihg asyftfllll nlyslvyned kkntmgpale
      361 ridyllilwi igmiwsdikr lwyegledfl eesrnqlsfv mnslylatfa lkvvahnkfh
      421 dfadrkdwda fhptlvaegl fafanvlsyl rlffmyttss ilgplqismg qmlqdfgkfl
      481 gmfllvlfsf tigltqlydk gytskeqkdc vgifceqqsn dtfhsfigtc falfwyifsl
      541 ahvaifvtrf sygeelqsfv gavivgtynv vvvivltkll vamlhksfql ianhedkewk
      601 faraklwlsy fddkctlppp fniipspkti cymisslskw icshtskgkv krqnslkewr
      661 nlkqkrdeny qkvmcclvhr yltsmrqkmq stdqatvenl nelrqdlskf rneirdllgf
      721 rtskyamfyp rn
//
LOCUS       XP_054207812             194 aa            linear   PRI 20-MAR-2023
DEFINITION  PRELI domain-containing protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054207812
VERSION     XP_054207812.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351837.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..194
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..194
                     /product="PRELI domain-containing protein 2 isoform X1"
                     /calculated_mol_wt=22472
     CDS             1..194
                     /gene="PRELID2"
                     /coded_by="XM_054351837.1:92..676"
                     /db_xref="GeneID:153768"
                     /db_xref="HGNC:HGNC:28306"
ORIGIN      
        1 mgvsvdvhqv ykypfeqvva sflrkypnpm dknvisvkim eekrdestgv iyrkriaicq
       61 nvvpeilrks lstlvilcwk kvsilkvpni qleeeswlnp rernmairsh cltwtqyasm
      121 keesvfresm enpnwtefiq rgrisitgvg flncvletfa stflrqgaqk ethcgfssty
      181 lncqhhyfct lvpl
//
LOCUS       XP_054207927             955 aa            linear   PRI 20-MAR-2023
DEFINITION  dedicator of cytokinesis protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054207927
VERSION     XP_054207927.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351952.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..955
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..955
                     /product="dedicator of cytokinesis protein 2 isoform X3"
                     /calculated_mol_wt=109922
     CDS             1..955
                     /gene="DOCK2"
                     /gene_synonym="IMD40"
                     /coded_by="XM_054351952.1:53..2920"
                     /db_xref="GeneID:1794"
                     /db_xref="HGNC:HGNC:2988"
                     /db_xref="MIM:603122"
ORIGIN      
        1 mapwrkadke rhgvaiynfq gsgapqlslq igdvvriqet cgdwyrgyli khkmlqgifp
       61 ksfihikevt vekrrnteni ipaeiplaqe vtttlwewgs iwkqlyvask kerflqvqsm
      121 mydlmewrsq llsgtlpkde lkelkqkvts kidygnkile ldlivrdedg nildpdntsv
      181 islfhaheea tdkiterike emskdqpdya mysrissspt hslyvfvrnf vcrigedael
      241 fmslydpnkq tvisenylvr wgsrgfpkei emlnnlkvvf tdlgnkdlnr dkiylicqiv
      301 rvgkmdlkdt gakkctqglr rpfgvavmdi tdiikgkaes deekqhfipf hpvtaendfl
      361 hsllgkvias kgdsggqglw vtmkmlvgdi iqirkdyphl vdrttvvark lgfpeiimpg
      421 dvrndiyitl lqgdfdkynk ttqrnvevim cvcaedgktl pnaicvgagd kpmneyrsvv
      481 yyqvkqprwm etvkvavpie dmqrihlrfm frhrsslesk dkgeknfams yvklmkedgt
      541 tlhdgfhdlv vlkgdskkme dasayltlps yrhhvenkga tlsrssssvg glsvssrdvf
      601 sistlvcstk ltqnvgllgl lkwrmkpqll qenleklkiv dgeevvkflq dtldalfnim
      661 mehsqsdeyd ilvfdaliyi igliadrkfq hfntvleayi qqhfsatlay kklmtvlkty
      721 ldtssrgeqc epilrtlkal eyvfkfivrs rtlfsqlyeg keqmefeesm rrlfesinnl
      781 mksqykttil lqvaalkyip svlhdvemvf dakllsqlly efytcippvk lqkqkvqsmn
      841 eivqsnlfkk qecrdillpv itkelkelle qkddmqhqvl erkycvelln silevlsyqd
      901 aaftyhhiqe imvqllrtvn rtvitmgrdh iligaccncg fpsstphsli qwlwg
//
LOCUS       XP_054211732             253 aa            linear   PRI 20-MAR-2023
DEFINITION  threonylcarbamoyladenosine tRNA methylthiotransferase isoform X7
            [Homo sapiens].
ACCESSION   XP_054211732
VERSION     XP_054211732.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355757.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..253
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..253
                     /product="threonylcarbamoyladenosine tRNA
                     methylthiotransferase isoform X7"
                     /calculated_mol_wt=28223
     CDS             1..253
                     /gene="CDKAL1"
                     /coded_by="XM_054355757.1:168..929"
                     /db_xref="GeneID:54901"
                     /db_xref="HGNC:HGNC:21050"
                     /db_xref="MIM:611259"
ORIGIN      
        1 mpsascdtll ddiedivsqe dskpqdrhfv rkdvvpkvrr rntqkylqee ensppsdsti
       61 pgiqkiwirt wgcshnnsdg eymagqlaay gykitenasd adlwllnsct vknpaedhfr
      121 nsikkaqeen kkivlagcvp qaqprqdylk glsiigvqqi drvvevveet ikghsvrllg
      181 qkkdngrrlg garldlpkir knplieiisi ntgclnacty cktkhargnl asypidelvd
      241 rakqsfqgng knp
//
LOCUS       XP_054212515             780 aa            linear   PRI 20-MAR-2023
DEFINITION  lethal(3)malignant brain tumor-like protein 3 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054212515
VERSION     XP_054212515.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356540.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..780
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..780
                     /product="lethal(3)malignant brain tumor-like protein 3
                     isoform X2"
                     /calculated_mol_wt=88219
     CDS             1..780
                     /gene="L3MBTL3"
                     /gene_synonym="MBT-1; MBT1"
                     /coded_by="XM_054356540.1:494..2836"
                     /db_xref="GeneID:84456"
                     /db_xref="HGNC:HGNC:23035"
                     /db_xref="MIM:618844"
ORIGIN      
        1 mtesasstsg qefdvfsvmd wkdgvgtlpg sdlkfrvnef galevitden emenvkkata
       61 tttwmvptaq eaptsppssr pvfppaywts ppgcptvfse ktgmpfrlkd pvkveglqfc
      121 enccqygnvd eclsggnycs qncarhikdk dqkeerdvee dneeedpkcs rkkkpklslk
      181 adnkedgeer ddemenkqdv rilrgsqrar rkrrgdsavl kqglppkgkk awcwasylee
      241 ekavavpakl fkehqsfpyn kngfkvgmkl egvdpehqsv ycvltvaevc gyriklhfdg
      301 ysdcydfwvn adaldihpvg wcektghklh ppkgykeeef nwqtylktck aqaapkslfe
      361 nqnitvipsg frvgmkleav dkknpsficv atvtdmvdnr flvhfdnwde sydywceass
      421 phihpvgwck ehrrtlitpp gypnvkhfsw dkyleetnsl paparafkvk pphgfqkkmk
      481 levvdkrnpm firvatvadt ddhrvkvhfd gwnncydywi dadspdihpv gwcsktghpl
      541 qpplsplelm easehggcst pgckgighfk rarhlgphsa ancpyseinl nkdrifpdrl
      601 sgemppasps fprnkrtdan esssspeird qhaddvkedf eertesemrt sheargaree
      661 ptvqqaqrrs avflsfkspi pclplrweqq skllptvagi paskvskwst devsefiqsl
      721 pgceehgkvf kdeqidgeaf llmtqtdivk imsiklgpal kifnsilmfk aaeknshnel
//
LOCUS       XP_054218692             467 aa            linear   PRI 20-MAR-2023
DEFINITION  sperm-associated antigen 8 isoform X2 [Homo sapiens].
ACCESSION   XP_054218692
VERSION     XP_054218692.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362717.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..467
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..467
                     /product="sperm-associated antigen 8 isoform X2"
                     /calculated_mol_wt=48803
     CDS             1..467
                     /gene="SPAG8"
                     /gene_synonym="BS-84; CILD28; CT142; HSD-1; hSMP-1; SMP1;
                     SPAG3"
                     /coded_by="XM_054362717.1:116..1519"
                     /db_xref="GeneID:26206"
                     /db_xref="HGNC:HGNC:14105"
                     /db_xref="MIM:605731"
ORIGIN      
        1 metnestegs rsrsrsldiq psseglgpts epfpssddsp rsalaaataa aaaaasaaaa
       61 taafttakaa alstktpapc sefmepssdp sllgepcagp gfthniahgs lgfepvyvsc
      121 iaqdtctttd hssnpgpvpg sssgpvlgss sgaghgsgsg sgpgcgsvpg sgsgpgpgsg
      181 pgsgpghgsg shpgpasgpg pdtgpdsels pcippgfrnl vadrvpnyts wsqhcpwepq
      241 kqppweflqv lepgarglwk ppdikgklmv cyetlprgqc llynweeera tnhldqvpsm
      301 qdgsesfffr hghrglltmq lkspmpsstt qkdsyqppgn vywplrgvkw kreamlemll
      361 qhqickevqa eqeptrklfe vesvthhdyr melaqagtpa ptkgvsnirt ldtpfrkncs
      421 fstpvplslg kllpyepeny pyqlgeissl pcpggrlggg ggrmtpf
//
LOCUS       XP_047301440             308 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphoglucomutase-like protein 5 isoform X5 [Homo sapiens].
ACCESSION   XP_047301440
VERSION     XP_047301440.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047445484.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..308
                     /product="phosphoglucomutase-like protein 5 isoform X5"
                     /calculated_mol_wt=33470
     Region          1..>302
                     /region_name="phosphohexomutase"
                     /note="The alpha-D-phosphohexomutase superfamily includes
                     several related enzymes that catalyze a reversible
                     intramolecular phosphoryl transfer on their sugar
                     substrates. Members of this family include the
                     phosphoglucomutases (PGM1 and PGM2),
                     phosphoglucosamine...; cl38939"
                     /db_xref="CDD:453899"
     Site            order(61,232,234,236)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:100086"
     CDS             1..308
                     /gene="LOC124906857"
                     /coded_by="XM_047445484.1:279..1205"
                     /db_xref="GeneID:124906857"
ORIGIN      
        1 mvvgsdgryf srtaieivvq maaangigrl iigqngilst pavsciirki kaaggiilta
       61 shcpggpgge fgvkfnvang gpapdvvsdk iyqisktiee yaicpdlqid lsrlgrqefd
      121 lenkfkpfrv eivdpvdiyl nllrtifdfh aikslltgps qlkirvdamh gvmgpyvrkv
      181 lcdelgapan saincvpled fggqhpdpnl tyamtlleam kggeygfgaa fdadgdrymi
      241 lgqngffvsp sdslaiiaan lscipyfrqm gvrgfgrsmp tsmaldrsdc sqffywglqc
      301 yefytryi
//
LOCUS       XP_054183104            1538 aa            linear   PRI 20-MAR-2023
DEFINITION  actin remodeling regulator NHS isoform X1 [Homo sapiens].
ACCESSION   XP_054183104
VERSION     XP_054183104.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327129.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1538
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1538
                     /product="actin remodeling regulator NHS isoform X1"
                     /calculated_mol_wt=167009
     CDS             1..1538
                     /gene="NHS"
                     /gene_synonym="CTRCT40; CXN; SCML1"
                     /coded_by="XM_054327129.1:833..5449"
                     /db_xref="GeneID:4810"
                     /db_xref="HGNC:HGNC:7820"
                     /db_xref="MIM:300457"
ORIGIN      
        1 mptspdgrip gepargpaar pgrtggrisa pgerctgglp raepeperap geaslgvaph
       61 rnppgcsatr spghaavsnl diesklsvyy rapwhqqrni flpatrppcv eelhrharqs
      121 lqalrrehrs rsdrreqraa aplsiaappl payppahsqr rrefkdrhfl tfnstrspsp
      181 tecchmtpws rkshppeded tdvmlgqrpk npihnipstl dkqtnwskal plptpeekmk
      241 qdaqvissci ipinvtgvgf dreasircsl vhsqsvlqrr rklrrrktis giprrvqqei
      301 dsdespvare rnvivhtnpd psntvnrisg trdsecqted iliaapsrrr iraqrgqsia
      361 aslshsagni saladkgdtm ftpavssrtr srslpregnr ggdaepkvga kpsayeeges
      421 fvgdhertpn dfseapssps aqdhqptlgl acsqhlhspq hklsergrsr lsrmaadsgs
      481 cdissnsdtf gspihcista gvllsshmdq kddhqsssgn wsgssstcps qtsetippaa
      541 sppltgsshc dselslntap hanedasvfv teqyndhldk vrghransft stvadllddp
      601 nnsntsdsew nylhhhhdas crqdfsperp kadslgcpsf tsmatydsfl ekspsdkadt
      661 sshfsvdteg yytsmhfdcg lkgnksyvch yaalgpengq gvgaspglpd cawqdyldhk
      721 rqgrpsisfr kpkakptppk rssslrksdg nadisekkep kissgqhlph ssremklpld
      781 fantpsrmen anlptkqeps winqseqgik epqldasdip pfkdevaest hyadlwllnd
      841 lktndpyrsl snsstatgtt viecikspes sesqtsqses rattpslpsv dnefklaspe
      901 klaglaspss gyssqsetpt ssfptaffsg plspggskrk pkvperkssl qqpslkdgti
      961 slskdlelpi ippthldlsa lhnvlnkpfh hrhplhvfth nkqntvgetl rsnpppslai
     1021 tptilksvnl rsinkseevk qkeenntdlp yleestltta alspskirph tanksvsrqy
     1081 stedtilsfl dssavemgpd klhleknstf dvknrcdpet itsagsslld snvtkdqvrt
     1141 etepipentp tkncafpteg fqrvsaarpn dldgkiiqyg pgpdetleqv qkapsaglee
     1201 vaqpesvdvi tsqsdsptra tdvsnqfkhq fvmsrhhdkv pgtisyesei tsvnsfpekc
     1261 skqeniasgi saksasdnsk aeetqgnvde aslkesspsd dsiisplsed sqaeaegvfv
     1321 spnkprtted lfavihrskr kvlgrkdsgd msvrsksrap lssssssass itspssnvtt
     1381 pnsqrspgli yrnakksnts neefkllllk kgsrsdssyr msateilksp ilpkppgelt
     1441 aespqstdda hqgsqgaeal splspcsprv naegfssksf atsasarvgr srappaasss
     1501 rysvrcrlyn tpmqaisege tensdgsphd drssqsst
//
LOCUS       NP_061820                105 aa            linear   PRI 23-MAR-2023
DEFINITION  cytochrome c [Homo sapiens].
ACCESSION   NP_061820
VERSION     NP_061820.1
DBSOURCE    REFSEQ: accession NM_018947.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 105)
  AUTHORS   Feng Y, Dong Y, Du KJ, Liu XC, Gao SQ and Lin YW.
  TITLE     The oxidative nuclease activity of human cytochrome c with
            mutations in Omega-loop C/D
  JOURNAL   Biochim Biophys Acta Proteins Proteom 1871 (3), 140897 (2023)
   PUBMED   36642204
  REMARK    GeneRIF: The oxidative nuclease activity of human cytochrome c with
            mutations in Omega-loop C/D.
REFERENCE   2  (residues 1 to 105)
  AUTHORS   Pinho SA, Costa CF, Deus CM, Pinho SLC, Miranda-Santos I, Afonso G,
            Bagshaw O, Stuart JA, Oliveira PJ and Cunha-Oliveira T.
  TITLE     Mitochondrial and metabolic remodelling in human skin fibroblasts
            in response to glucose availability
  JOURNAL   FEBS J 289 (17), 5198-5217 (2022)
   PUBMED   35213938
REFERENCE   3  (residues 1 to 105)
  AUTHORS   Kan J, Hu Y, Ge Y, Zhang W, Lu S, Zhao C, Zhang R and Liu Y.
  TITLE     Declined expressions of vast mitochondria-related genes represented
            by CYCS and transcription factor ESRRA in skeletal muscle aging
  JOURNAL   Bioengineered 12 (1), 3485-3502 (2021)
   PUBMED   34229541
  REMARK    GeneRIF: Declined expressions of vast mitochondria-related genes
            represented by CYCS and transcription factor ESRRA in skeletal
            muscle aging.
REFERENCE   4  (residues 1 to 105)
  AUTHORS   Samsri S and Pornsuwan S.
  TITLE     Influence of cysteine-directed mutations at the Omega-loops on
            peroxidase activity of human cytochrome c
  JOURNAL   Arch Biochem Biophys 709, 108980 (2021)
   PUBMED   34224685
  REMARK    GeneRIF: Influence of cysteine-directed mutations at the
            Omega-loops on peroxidase activity of human cytochrome c.
REFERENCE   5  (residues 1 to 105)
  AUTHORS   Zhang Z and Gerstein M.
  TITLE     The human genome has 49 cytochrome c pseudogenes, including a relic
            of a primordial gene that still functions in mouse
  JOURNAL   Gene 312, 61-72 (2003)
   PUBMED   12909341
REFERENCE   6  (residues 1 to 105)
  AUTHORS   Lynch SR, Sherman D and Copeland RA.
  TITLE     Cytochrome c binding affects the conformation of cytochrome a in
            cytochrome c oxidase
  JOURNAL   J Biol Chem 267 (1), 298-302 (1992)
   PUBMED   1309738
REFERENCE   7  (residues 1 to 105)
  AUTHORS   Garber EA and Margoliash E.
  TITLE     Interaction of cytochrome c with cytochrome c oxidase: an
            understanding of the high- to low-affinity transition
  JOURNAL   Biochim Biophys Acta 1015 (2), 279-287 (1990)
   PUBMED   2153405
REFERENCE   8  (residues 1 to 105)
  AUTHORS   Evans MJ and Scarpulla RC.
  TITLE     The human somatic cytochrome c gene: two classes of processed
            pseudogenes demarcate a period of rapid molecular evolution
  JOURNAL   Proc Natl Acad Sci U S A 85 (24), 9625-9629 (1988)
   PUBMED   2849112
REFERENCE   9  (residues 1 to 105)
  AUTHORS   Bedetti,C.D.
  TITLE     Immunocytochemical demonstration of cytochrome c oxidase with an
            immunoperoxidase method: a specific stain for mitochondria in
            formalin-fixed and paraffin-embedded human tissues
  JOURNAL   J Histochem Cytochem 33 (5), 446-452 (1985)
   PUBMED   2580882
REFERENCE   10 (residues 1 to 105)
  AUTHORS   Ng,S., Smith,M.B., Smith,H.T. and Millett,F.
  TITLE     Effect of modification of individual cytochrome c lysines on the
            reaction with cytochrome b5
  JOURNAL   Biochemistry 16 (23), 4975-4978 (1977)
   PUBMED   199233
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB447825.1, BC024216.1,
            AC007487.2 and AI365318.1.
            
            Summary: This gene encodes a small heme protein that functions as a
            central component of the electron transport chain in mitochondria.
            The encoded protein associates with the inner membrane of the
            mitochondrion where it accepts electrons from cytochrome b and
            transfers them to the cytochrome oxidase complex. This protein is
            also involved in initiation of apoptosis. Mutations in this gene
            are associated with autosomal dominant nonsyndromic
            thrombocytopenia. Numerous processed pseudogenes of this gene are
            found throughout the human genome.[provided by RefSeq, Jul 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL713681.1, BC009582.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000305786.7/
                                                  ENSP00000307786.2
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..105
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.3"
     Protein         1..105
                     /product="cytochrome c"
                     /calculated_mol_wt=11618
     Region          1..103
                     /region_name="Cyc7"
                     /note="Cytochrome c2 [Energy production and conversion];
                     COG3474"
                     /db_xref="CDD:226005"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylglycine.
                     /evidence=ECO:0000269|PubMed:13933734; propagated from
                     UniProtKB/Swiss-Prot (P99999.2)"
     Site            49
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P62894; propagated from
                     UniProtKB/Swiss-Prot (P99999.2)"
     Site            73
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P62897; propagated from
                     UniProtKB/Swiss-Prot (P99999.2)"
     Site            98
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P62894; propagated from
                     UniProtKB/Swiss-Prot (P99999.2)"
     Site            100
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P62897; propagated from
                     UniProtKB/Swiss-Prot (P99999.2)"
     CDS             1..105
                     /gene="CYCS"
                     /gene_synonym="CYC; HCS; THC4"
                     /coded_by="NM_018947.6:70..387"
                     /db_xref="CCDS:CCDS5393.1"
                     /db_xref="GeneID:54205"
                     /db_xref="HGNC:HGNC:19986"
                     /db_xref="MIM:123970"
ORIGIN      
        1 mgdvekgkki fimkcsqcht vekggkhktg pnlhglfgrk tgqapgysyt aanknkgiiw
       61 gedtlmeyle npkkyipgtk mifvgikkke eradliaylk katne
//
LOCUS       NP_001362576             194 aa            linear   PRI 10-APR-2023
DEFINITION  interferon-induced protein 44-like isoform 2 [Homo sapiens].
ACCESSION   NP_001362576 XP_005270448
VERSION     NP_001362576.1
DBSOURCE    REFSEQ: accession NM_001375647.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 194)
  AUTHORS   Zhang Q, Wu R, Tan Y, Huang J and Luo S.
  TITLE     Novel polymorphism of IFI44L associated with the susceptibility and
            clinical characteristics of systemic lupus erythematosus in a
            Chinese population
  JOURNAL   Int Immunopharmacol 117, 109979 (2023)
   PUBMED   36893516
  REMARK    GeneRIF: Novel polymorphism of IFI44L associated with the
            susceptibility and clinical characteristics of systemic lupus
            erythematosus in a Chinese population.
REFERENCE   2  (residues 1 to 194)
  AUTHORS   Takashima Y, Hamano M, Yoshii K, Hayano A, Fukai J, Iwadate Y,
            Kajiwara K, Hondoh H and Yamanaka R.
  TITLE     Reciprocal expression of the immune response genes CXCR3 and IFI44L
            as module hubs are associated with patient survivals in primary
            central nervous system lymphoma
  JOURNAL   Int J Clin Oncol 28 (3), 468-481 (2023)
   PUBMED   36607476
  REMARK    GeneRIF: Reciprocal expression of the immune response genes CXCR3
            and IFI44L as module hubs are associated with patient survivals in
            primary central nervous system lymphoma.
REFERENCE   3  (residues 1 to 194)
  AUTHORS   Zeng Y, Chen HQ, Zhang Z, Fan J, Li JZ, Zhou SM, Wang N, Yan SP,
            Cao J, Liu JY, Zhou ZY and Liu WB.
  TITLE     IFI44L as a novel epigenetic silencing tumor suppressor promotes
            apoptosis through JAK/STAT1 pathway during lung carcinogenesis
  JOURNAL   Environ Pollut 319, 120943 (2023)
   PUBMED   36584854
  REMARK    GeneRIF: IFI44L as a novel epigenetic silencing tumor suppressor
            promotes apoptosis through JAK/STAT1 pathway during lung
            carcinogenesis.
REFERENCE   4  (residues 1 to 194)
  AUTHORS   Wang Y, Jia W, Ma Q, Li F, Ma Z, Yang M, Pu J, Huo Z and Dang J.
  TITLE     Identification of IFI44L as a new candidate molecular marker for
            systemic lupus erythematosus
  JOURNAL   Clin Exp Rheumatol 41 (1), 48-59 (2023)
   PUBMED   35349411
  REMARK    GeneRIF: Identification of IFI44L as a new candidate molecular
            marker for systemic lupus erythematosus.
REFERENCE   5  (residues 1 to 194)
  AUTHORS   Luo S, Wu R, Li Q and Zhang G.
  TITLE     Epigenetic Regulation of IFI44L Expression in Monocytes Affects the
            Functions of Monocyte-Derived Dendritic Cells in Systemic Lupus
            Erythematosus
  JOURNAL   J Immunol Res 2022, 4053038 (2022)
   PUBMED   35592687
  REMARK    GeneRIF: Epigenetic Regulation of IFI44L Expression in Monocytes
            Affects the Functions of Monocyte-Derived Dendritic Cells in
            Systemic Lupus Erythematosus.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 194)
  AUTHORS   Ruderfer DM, Fanous AH, Ripke S, McQuillin A, Amdur RL, Gejman PV,
            O'Donovan MC, Andreassen OA, Djurovic S, Hultman CM, Kelsoe JR,
            Jamain S, Landen M, Leboyer M, Nimgaonkar V, Nurnberger J, Smoller
            JW, Craddock N, Corvin A, Sullivan PF, Holmans P, Sklar P and
            Kendler KS.
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium;
            Bipolar Disorder Working Group of the Psychiatric Genomics
            Consortium; Cross-Disorder Working Group of the Psychiatric
            Genomics Consortium
  TITLE     Polygenic dissection of diagnosis and clinical dimensions of
            bipolar disorder and schizophrenia
  JOURNAL   Mol Psychiatry 19 (9), 1017-1024 (2014)
   PUBMED   24280982
REFERENCE   7  (residues 1 to 194)
  AUTHORS   Bloch DB, Li P, Bloch EG, Berenson DF, Galdos RL, Arora P, Malhotra
            R, Wu C and Yang W.
  TITLE     LMKB/MARF1 localizes to mRNA processing bodies, interacts with
            Ge-1, and regulates IFI44L gene expression
  JOURNAL   PLoS One 9 (4), e94784 (2014)
   PUBMED   24755989
  REMARK    GeneRIF: LMKB is the first protein identified to date that
            interacts with this portion of Ge-1. LMKB was expressed in human B
            and T lymphocyte cell lines; depletion of LMKB increased expression
            of IFI44L.
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 194)
  CONSRTM   Cross-Disorder Group of the Psychiatric Genomics Consortium
  TITLE     Identification of risk loci with shared effects on five major
            psychiatric disorders: a genome-wide analysis
  JOURNAL   Lancet 381 (9875), 1371-1379 (2013)
   PUBMED   23453885
  REMARK    Erratum:[Lancet. 2013 Apr 20;381(9875):1360]
REFERENCE   9  (residues 1 to 194)
  AUTHORS   Schoggins JW, Wilson SJ, Panis M, Murphy MY, Jones CT, Bieniasz P
            and Rice CM.
  TITLE     A diverse range of gene products are effectors of the type I
            interferon antiviral response
  JOURNAL   Nature 472 (7344), 481-485 (2011)
   PUBMED   21478870
  REMARK    Erratum:[Nature. 2015 Sep 3;525(7567):144. PMID: 26153858]
REFERENCE   10 (residues 1 to 194)
  AUTHORS   Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML and Seielstad M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104837.2.
            On Oct 31, 2019 this sequence version replaced XP_005270448.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.586969.1, AK316232.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..194
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     Protein         1..194
                     /product="interferon-induced protein 44-like isoform 2"
                     /calculated_mol_wt=21503
     CDS             1..194
                     /gene="IFI44L"
                     /gene_synonym="C1orf29; GS3686; TLDC5B"
                     /coded_by="NM_001375647.1:421..1005"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS90985.1"
                     /db_xref="GeneID:10964"
                     /db_xref="HGNC:HGNC:17817"
                     /db_xref="MIM:613975"
ORIGIN      
        1 mlcdtmgldg aegaglcmdd iphilkgcmp dryqfnsrkp itpehstfit spslkdrihc
       61 vayvldinsi dnlyskmlak vkqvhkevln cgiayvallt kvddcsevlq dnflnmsrsm
      121 tsqsrvmnvh kmlgipisni lmvgnyasdl eldpmkdili lsalrqmlra addfledlpl
      181 eetgaieral qpci
//
LOCUS       NP_001310942             455 aa            linear   PRI 10-APR-2023
DEFINITION  catenin alpha-1 isoform 12 [Homo sapiens].
ACCESSION   NP_001310942
VERSION     NP_001310942.1
DBSOURCE    REFSEQ: accession NM_001324013.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 455)
  AUTHORS   Rangarajan ES, Smith EW and Izard T.
  TITLE     Distinct inter-domain interactions of dimeric versus monomeric
            alpha-catenin link cell junctions to filaments
  JOURNAL   Commun Biol 6 (1), 276 (2023)
   PUBMED   36928388
  REMARK    GeneRIF: Distinct inter-domain interactions of dimeric versus
            monomeric alpha-catenin link cell junctions to filaments.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 455)
  AUTHORS   Coudert M, Drouet Y, Delhomelle H, Svrcek M, Benusiglio PR, Coulet
            F, Clark DF, Katona BW, van Hest LP, van der Kolk LE, Cats A, van
            Dieren JM, Nehoray B, Slavin T, Spier I, Huneburg R, Lobo S,
            Oliveira C, Boussemart L, Masson L, Chiesa J, Schwartz M, Buecher
            B, Golmard L, Bouvier AM, Bonadona V, Stoppa-Lyonnet D, Lasset C
            and Colas C.
  TITLE     First estimates of diffuse gastric cancer risks for carriers of
            CTNNA1 germline pathogenic variants
  JOURNAL   J Med Genet 59 (12), 1189-1195 (2022)
   PUBMED   36038258
  REMARK    GeneRIF: First estimates of diffuse gastric cancer risks for
            carriers of CTNNA1 germline pathogenic variants.
REFERENCE   3  (residues 1 to 455)
  AUTHORS   Carneiro F.
  TITLE     Familial and hereditary gastric cancer, an overview
  JOURNAL   Best Pract Res Clin Gastroenterol 58-59, 101800 (2022)
   PUBMED   35988963
  REMARK    GeneRIF: Familial and hereditary gastric cancer, an overview.
            Review article
REFERENCE   4  (residues 1 to 455)
  AUTHORS   Kim M, Park J, Bouhaddou M, Kim K, Rojc A, Modak M, Soucheray M,
            McGregor MJ, O'Leary P, Wolf D, Stevenson E, Foo TK, Mitchell D,
            Herrington KA, Munoz DP, Tutuncuoglu B, Chen KH, Zheng F, Kreisberg
            JF, Diolaiti ME, Gordan JD, Coppe JP, Swaney DL, Xia B, van 't Veer
            L, Ashworth A, Ideker T and Krogan NJ.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   5  (residues 1 to 455)
  AUTHORS   Lobo S, Benusiglio PR, Coulet F, Boussemart L, Golmard L, Spier I,
            Huneburg R, Aretz S, Colas C and Oliveira C.
  TITLE     Cancer predisposition and germline CTNNA1 variants
  JOURNAL   Eur J Med Genet 64 (10), 104316 (2021)
   PUBMED   34425242
  REMARK    GeneRIF: Cancer predisposition and germline CTNNA1 variants.
REFERENCE   6  (residues 1 to 455)
  AUTHORS   Sacco PA, McGranahan TM, Wheelock MJ and Johnson KR.
  TITLE     Identification of plakoglobin domains required for association with
            N-cadherin and alpha-catenin
  JOURNAL   J Biol Chem 270 (34), 20201-20206 (1995)
   PUBMED   7650039
REFERENCE   7  (residues 1 to 455)
  AUTHORS   Knudsen KA, Soler AP, Johnson KR and Wheelock MJ.
  TITLE     Interaction of alpha-actinin with the cadherin/catenin cell-cell
            adhesion complex via alpha-catenin
  JOURNAL   J Cell Biol 130 (1), 67-77 (1995)
   PUBMED   7790378
REFERENCE   8  (residues 1 to 455)
  AUTHORS   Aberle H, Butz S, Stappert J, Weissig H, Kemler R and Hoschuetzky
            H.
  TITLE     Assembly of the cadherin-catenin complex in vitro with recombinant
            proteins
  JOURNAL   J Cell Sci 107 (Pt 12), 3655-3663 (1994)
   PUBMED   7706414
REFERENCE   9  (residues 1 to 455)
  AUTHORS   Herrenknecht K, Ozawa M, Eckerskorn C, Lottspeich F, Lenter M and
            Kemler R.
  TITLE     The uvomorulin-anchorage protein alpha catenin is a vinculin
            homologue
  JOURNAL   Proc Natl Acad Sci U S A 88 (20), 9156-9160 (1991)
   PUBMED   1924379
REFERENCE   10 (residues 1 to 455)
  AUTHORS   Nagafuchi A, Takeichi M and Tsukita S.
  TITLE     The 102 kd cadherin-associated protein: similarity to vinculin and
            posttranscriptional regulation of expression
  JOURNAL   Cell 65 (5), 849-857 (1991)
   PUBMED   1904011
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011405.6.
            
            Summary: This gene encodes a member of the catenin family of
            proteins that play an important role in cell adhesion process by
            connecting cadherins located on the plasma membrane to the actin
            filaments inside the cell. The encoded mechanosensing protein
            contains three vinculin homology domains and undergoes
            conformational changes in response to cytoskeletal tension,
            resulting in the reconfiguration of cadherin-actin filament
            connections. Certain mutations in this gene cause butterfly-shaped
            pigment dystrophy. [provided by RefSeq, May 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.243424.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465403 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..455
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     Protein         1..455
                     /product="catenin alpha-1 isoform 12"
                     /note="alpha-E-catenin; renal carcinoma antigen NY-REN-13;
                     catenin (cadherin-associated protein), alpha 1, 102kDa;
                     epididymis secretory sperm binding protein"
                     /calculated_mol_wt=50187
     Region          <1..416
                     /region_name="Vinculin"
                     /note="Vinculin family; pfam01044"
                     /db_xref="CDD:395830"
     CDS             1..455
                     /gene="CTNNA1"
                     /gene_synonym="CAP102; MDBS2; MDPT2"
                     /coded_by="NM_001324013.1:830..2197"
                     /note="isoform 12 is encoded by transcript variant 37"
                     /db_xref="GeneID:1495"
                     /db_xref="HGNC:HGNC:2509"
                     /db_xref="MIM:116805"
ORIGIN      
        1 msasqlealc pqvinaalal aakpqsklaq enmdlfkeqw ekqvrvltda vdditsiddf
       61 lavsenhile dvnkcvialq ekdvdgldrt agairgraar vihvvtsemd nyepgvytek
      121 vleatkllsn tvmprfteqv eaavealssd paqpmdenef idasrlvydg irdirkavlm
      181 irtpeeldds dfetedfdvr srtsvqtedd qliagqsara imaqlpqeqk akiaeqvasf
      241 qeekskldae vskwddsgnd iivlakqmcm immemtdftr gkgplkntsd visaakkiae
      301 agsrmdklgr tiadhcpdsa ckqdllaylq rialychqln icskvkaevq nlggelvvsg
      361 vdsamsliqa aknlmnavvq tvkasyvast kyqksqgmas lnlpavswkm kapekkplvk
      421 rekqdetqtk ikrasqkkhv npvqalsefk amdsi
//
LOCUS       NP_066930                138 aa            linear   PRI 17-DEC-2022
DEFINITION  28S ribosomal protein S12, mitochondrial precursor [Homo sapiens].
ACCESSION   NP_066930
VERSION     NP_066930.1
DBSOURCE    REFSEQ: accession NM_021107.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 138)
  AUTHORS   Qiu X, Guo D, Du J, Bai Y and Wang F.
  TITLE     A novel biomarker, MRPS12 functions as a potential oncogene in
            ovarian cancer and is a promising prognostic candidate
  JOURNAL   Medicine (Baltimore) 100 (8), e24898 (2021)
   PUBMED   33663122
  REMARK    GeneRIF: A novel biomarker, MRPS12 functions as a potential
            oncogene in ovarian cancer and is a promising prognostic candidate.
REFERENCE   2  (residues 1 to 138)
  AUTHORS   Greber BJ and Ban N.
  TITLE     Structure and Function of the Mitochondrial Ribosome
  JOURNAL   Annu Rev Biochem 85, 103-132 (2016)
   PUBMED   27023846
  REMARK    Review article
REFERENCE   3  (residues 1 to 138)
  AUTHORS   Amunts A, Brown A, Toots J, Scheres SHW and Ramakrishnan V.
  TITLE     Ribosome. The structure of the human mitochondrial ribosome
  JOURNAL   Science 348 (6230), 95-98 (2015)
   PUBMED   25838379
REFERENCE   4  (residues 1 to 138)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   5  (residues 1 to 138)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 138)
  AUTHORS   Cavdar Koc E, Burkhart W, Blackburn K, Moseley A and Spremulli LL.
  TITLE     The small subunit of the mammalian mitochondrial ribosome.
            Identification of the full complement of ribosomal proteins present
  JOURNAL   J Biol Chem 276 (22), 19363-19374 (2001)
   PUBMED   11279123
REFERENCE   7  (residues 1 to 138)
  AUTHORS   Mariottini P, Shah ZH, Toivonen JM, Bagni C, Spelbrink JN, Amaldi F
            and Jacobs HT.
  TITLE     Expression of the gene for mitoribosomal protein S12 is controlled
            in human cells at the levels of transcription, RNA splicing, and
            translation
  JOURNAL   J Biol Chem 274 (45), 31853-31862 (1999)
   PUBMED   10542210
REFERENCE   8  (residues 1 to 138)
  AUTHORS   Johnson DF, Hamon M and Fischel-Ghodsian N.
  TITLE     Characterization of the human mitochondrial ribosomal S12 gene
  JOURNAL   Genomics 52 (3), 363-368 (1998)
   PUBMED   9790755
REFERENCE   9  (residues 1 to 138)
  AUTHORS   Shah ZH, Migliosi V, Miller SC, Wang A, Friedman TB and Jacobs HT.
  TITLE     Chromosomal locations of three human nuclear genes (RPSM12, TUFM,
            and AFG3L1) specifying putative components of the mitochondrial
            gene expression apparatus
  JOURNAL   Genomics 48 (3), 384-388 (1998)
   PUBMED   9545647
REFERENCE   10 (residues 1 to 138)
  AUTHORS   Shah ZH, O'Dell KM, Miller SC, An X and Jacobs HT.
  TITLE     Metazoan nuclear genes for mitoribosomal protein S12
  JOURNAL   Gene 204 (1-2), 55-62 (1997)
   PUBMED   9434165
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Y11681.1.
            
            Summary: Mammalian mitochondrial ribosomal proteins are encoded by
            nuclear genes and help in protein synthesis within the
            mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a
            small 28S subunit and a large 39S subunit. They have an estimated
            75% protein to rRNA composition compared to prokaryotic ribosomes,
            where this ratio is reversed. Another difference between mammalian
            mitoribosomes and prokaryotic ribosomes is that the latter contain
            a 5S rRNA. Among different species, the proteins comprising the
            mitoribosome differ greatly in sequence, and sometimes in
            biochemical properties, which prevents easy recognition by sequence
            homology. This gene encodes a 28S subunit protein that belongs to
            the ribosomal protein S12P family. The encoded protein is a key
            component of the ribosomal small subunit and controls the decoding
            fidelity and susceptibility to aminoglycoside antibiotics. The gene
            for mitochondrial seryl-tRNA synthetase is located upstream and
            adjacent to this gene, and both genes are possible candidates for
            the autosomal dominant deafness gene (DFNA4). Splice variants that
            differ in the 5' UTR have been found for this gene; all three
            variants encode the same protein. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) is the longest transcript,
            when the polyA tail is excluded. Variants 1, 2, and 3 encode the
            same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Y11681.1, SRR1163657.555676.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            regulatory uORF                    :: PMID: 10542210
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..138
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     Protein         1..138
                     /product="28S ribosomal protein S12, mitochondrial
                     precursor"
                     /note="28S ribosomal protein S12, mitochondrial; S12mt;
                     MRP-S12; mitochondrial small ribosomal subunit protein
                     uS12m"
                     /calculated_mol_wt=12118
     transit_peptide 1..29
                     /calculated_mol_wt=3073
     mat_peptide     30..138
                     /product="28S ribosomal protein S12, mitochondrial"
                     /calculated_mol_wt=12118
     Region          32..138
                     /region_name="Ribosomal_S12"
                     /note="S12-like family, 30S ribosomal protein S12
                     subfamily; S12 is located at the interface of the large
                     and small ribosomal subunits of prokaryotes, chloroplasts
                     and mitochondria, where it plays an important role in both
                     tRNA and ribosomal subunit...; cd03368"
                     /db_xref="CDD:239466"
     Site            order(33..34,36..37,40..41)
                     /site_type="other"
                     /note="S17 interaction site [polypeptide binding]"
                     /db_xref="CDD:239466"
     Site            33
                     /site_type="active"
                     /note="S8 interaction site [active]"
                     /db_xref="CDD:239466"
     Region          36..56
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15235.1)"
     Site            order(41..43,54,56..57,59,74..75,77..79,86,94,97..98,
                     111..112,116..117,138)
                     /site_type="other"
                     /note="16S rRNA interaction site [nucleotide binding]"
                     /db_xref="CDD:239466"
     Site            order(71..72,116)
                     /site_type="other"
                     /note="streptomycin interaction site [chemical binding]"
                     /db_xref="CDD:239466"
     Site            72..73
                     /site_type="other"
                     /note="23S rRNA interaction site [nucleotide binding]"
                     /db_xref="CDD:239466"
     Site            order(73..78,98..106)
                     /site_type="other"
                     /note="aminoacyl-tRNA interaction site (A-site)
                     [nucleotide binding]"
                     /db_xref="CDD:239466"
     CDS             1..138
                     /gene="MRPS12"
                     /gene_synonym="MPR-S12; MT-RPS12; RPMS12; RPS12; RPSM12"
                     /coded_by="NM_021107.1:342..758"
                     /db_xref="CCDS:CCDS12525.1"
                     /db_xref="GeneID:6183"
                     /db_xref="HGNC:HGNC:10380"
                     /db_xref="MIM:603021"
ORIGIN      
        1 mswsgllhgl ntsltcgpal vprlwatcsm atlnqmhrlg ppkrpprklg ptegrpqlkg
       61 vvlctftrkp kkpnsanrkc crvrlstgre avcfipgegh tlqehqivlv eggrtqdlpg
      121 vkltvvrgky dcghvqkk
//
LOCUS       NP_071383                128 aa            linear   PRI 18-DEC-2022
DEFINITION  28S ribosomal protein S14, mitochondrial [Homo sapiens].
ACCESSION   NP_071383
VERSION     NP_071383.1
DBSOURCE    REFSEQ: accession NM_022100.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 128)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 128)
  AUTHORS   Jackson CB, Huemer M, Bolognini R, Martin F, Szinnai G, Donner BC,
            Richter U, Battersby BJ, Nuoffer JM, Suomalainen A and Schaller A.
  TITLE     A variant in MRPS14 (uS14m) causes perinatal hypertrophic
            cardiomyopathy with neonatal lactic acidosis, growth retardation,
            dysmorphic features and neurological involvement
  JOURNAL   Hum Mol Genet 28 (4), 639-649 (2019)
   PUBMED   30358850
  REMARK    GeneRIF: our data demonstrate pathogenic mutations in MRPS14 can
            manifest as a perinatal-onset mitochondrial hypertrophic
            cardiomyopathy with a novel molecular pathogenic mechanism that
            impairs the function of mitochondrial ribosomes during translation
            elongation or mitochondrial mRNA recruitment rather than assembly.
REFERENCE   3  (residues 1 to 128)
  AUTHORS   Greber BJ and Ban N.
  TITLE     Structure and Function of the Mitochondrial Ribosome
  JOURNAL   Annu Rev Biochem 85, 103-132 (2016)
   PUBMED   27023846
  REMARK    Review article
REFERENCE   4  (residues 1 to 128)
  AUTHORS   Amunts A, Brown A, Toots J, Scheres SHW and Ramakrishnan V.
  TITLE     Ribosome. The structure of the human mitochondrial ribosome
  JOURNAL   Science 348 (6230), 95-98 (2015)
   PUBMED   25838379
REFERENCE   5  (residues 1 to 128)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   6  (residues 1 to 128)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 128)
  AUTHORS   Zhang Z and Gerstein M.
  TITLE     Identification and characterization of over 100 mitochondrial
            ribosomal protein pseudogenes in the human genome
  JOURNAL   Genomics 81 (5), 468-480 (2003)
   PUBMED   12706105
REFERENCE   8  (residues 1 to 128)
  AUTHORS   Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S,
            Watanabe K and Tanaka T.
  TITLE     The human mitochondrial ribosomal protein genes: mapping of 54
            genes to the chromosomes and implications for human disorders
  JOURNAL   Genomics 77 (1-2), 65-70 (2001)
   PUBMED   11543634
REFERENCE   9  (residues 1 to 128)
  AUTHORS   Cavdar Koc E, Burkhart W, Blackburn K, Moseley A and Spremulli LL.
  TITLE     The small subunit of the mammalian mitochondrial ribosome.
            Identification of the full complement of ribosomal proteins present
  JOURNAL   J Biol Chem 276 (22), 19363-19374 (2001)
   PUBMED   11279123
REFERENCE   10 (residues 1 to 128)
  AUTHORS   Koc EC, Burkhart W, Blackburn K, Moseley A, Koc H and Spremulli LL.
  TITLE     A proteomics approach to the identification of mammalian
            mitochondrial small subunit ribosomal proteins
  JOURNAL   J Biol Chem 275 (42), 32585-32591 (2000)
   PUBMED   10938081
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049705.1, BE882322.1,
            DA610441.1 and AI086885.1.
            
            Summary: Mammalian mitochondrial ribosomal proteins are encoded by
            nuclear genes and help in protein synthesis within the
            mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a
            small 28S subunit and a large 39S subunit. They have an estimated
            75% protein to rRNA composition compared to prokaryotic ribosomes,
            where this ratio is reversed. Another difference between mammalian
            mitoribosomes and prokaryotic ribosomes is that the latter contain
            a 5S rRNA. Among different species, the proteins comprising the
            mitoribosome differ greatly in sequence, and sometimes in
            biochemical properties, which prevents easy recognition by sequence
            homology. This gene encodes a 28S subunit protein that belongs to
            the ribosomal protein S14P family. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Nov 2010].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the functional protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL049705.1, SRR18074968.1090834.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146411, SAMEA2162568
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000476371.1/
                                                  ENSP00000420714.1
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..128
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.1"
     Protein         1..128
                     /product="28S ribosomal protein S14, mitochondrial"
                     /EC_number="3.6.5.3"
                     /note="mitochondrial 28S ribosomal protein S14;
                     mitochondrial small ribosomal subunit protein uS14m"
                     /calculated_mol_wt=15008
     Region          74..126
                     /region_name="Ribosomal_S14"
                     /note="Ribosomal protein S14p/S29e; pfam00253"
                     /db_xref="CDD:395195"
     CDS             1..128
                     /gene="MRPS14"
                     /gene_synonym="COXPD38; DJ262D12.2; HSMRPS14; MRP-S14;
                     S14mt"
                     /coded_by="NM_022100.3:18..404"
                     /db_xref="CCDS:CCDS1316.1"
                     /db_xref="GeneID:63931"
                     /db_xref="HGNC:HGNC:14049"
                     /db_xref="MIM:611978"
ORIGIN      
        1 maafmlgsll rtfkqmvpss asgqvrshyv dwrmwrdvkr rkmayeyade rlrinslrkn
       61 tilpkilqdv adeeiaalpr dscpvrirnr cvmtsrprgv krrwrlsriv frhladhgql
      121 sgiqratw
//
LOCUS       NP_733772                690 aa            linear   PRI 18-DEC-2022
DEFINITION  ras guanyl-releasing protein 3 isoform 1 [Homo sapiens].
ACCESSION   NP_733772
VERSION     NP_733772.1
DBSOURCE    REFSEQ: accession NM_170672.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 690)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 690)
  AUTHORS   Zhang Z, Ma M, Hu R, Xu B, Zong L, Wei H and Meng Y.
  TITLE     RasGRP3, a Ras guanyl releasing protein 3 that contributes to
            malignant proliferation and aggressiveness in human esophageal
            squamous cell carcinoma
  JOURNAL   Clin Exp Pharmacol Physiol 45 (7), 720-728 (2018)
   PUBMED   29461644
  REMARK    GeneRIF: RasGRP3, a Ras guanyl releasing protein 3 that contributes
            to malignant proliferation and aggressiveness in human esophageal
            squamous cell carcinoma
REFERENCE   3  (residues 1 to 690)
  AUTHORS   Czikora A, Kedei N, Kalish H and Blumberg PM.
  TITLE     Importance of the REM (Ras exchange) domain for membrane
            interactions by RasGRP3
  JOURNAL   Biochim Biophys Acta Biomembr 1859 (12), 2350-2360 (2017)
   PUBMED   28912101
  REMARK    GeneRIF: The marked differences between RasGRP3 and RasGRP1 in
            membrane interaction necessarily will contribute to their different
            behavior in cells.
REFERENCE   4  (residues 1 to 690)
  AUTHORS   Hu G, Zhou Y, Zhu Y, Zhou L, Ling R, Wu D, Mi L, Wang X, Dai D, Mao
            C and Chen D.
  TITLE     Novel transduction of nutrient stress to Notch pathway by RasGRP3
            promotes malignant aggressiveness in human esophageal squamous cell
            carcinoma
  JOURNAL   Oncol Rep 38 (5), 2975-2984 (2017)
   PUBMED   29048643
  REMARK    GeneRIF: In conclusion, these findings provide a new insight into
            the upregulation of RasGRP3 involved in Notch pathway activation in
            the development of esophageal squamous cell carcinoma , especially
            under nutrient deprivation.
REFERENCE   5  (residues 1 to 690)
  AUTHORS   Qiu W, Xia X, Qiu Z, Guo M and Yang Z.
  TITLE     RasGRP3 controls cell proliferation and migration in papillary
            thyroid cancer by regulating the Akt-MDM2 pathway
  JOURNAL   Gene 633, 35-41 (2017)
   PUBMED   28864115
  REMARK    GeneRIF: these data show that RasGRP3 exerts its oncogenic effect
            in papillary thyroid cancer through Akt-mediated MDM2 activation.
REFERENCE   6  (residues 1 to 690)
  AUTHORS   Brodie C, Steinhart R, Kazimirsky G, Rubinfeld H, Hyman T, Ayres
            JN, Hur GM, Toth A, Yang D, Garfield SH, Stone JC and Blumberg PM.
  TITLE     PKCdelta associates with and is involved in the phosphorylation of
            RasGRP3 in response to phorbol esters
  JOURNAL   Mol Pharmacol 66 (1), 76-84 (2004)
   PUBMED   15213298
REFERENCE   7  (residues 1 to 690)
  AUTHORS   Teixeira C, Stang SL, Zheng Y, Beswick NS and Stone JC.
  TITLE     Integration of DAG signaling systems mediated by PKC-dependent
            phosphorylation of RasGRP3
  JOURNAL   Blood 102 (4), 1414-1420 (2003)
   PUBMED   12730099
REFERENCE   8  (residues 1 to 690)
  AUTHORS   Lorenzo PS, Kung JW, Bottorff DA, Garfield SH, Stone JC and
            Blumberg PM.
  TITLE     Phorbol esters modulate the Ras exchange factor RasGRP3
  JOURNAL   Cancer Res 61 (3), 943-949 (2001)
   PUBMED   11221888
REFERENCE   9  (residues 1 to 690)
  AUTHORS   Rebhun JF, Castro AF and Quilliam LA.
  TITLE     Identification of guanine nucleotide exchange factors (GEFs) for
            the Rap1 GTPase. Regulation of MR-GEF by M-Ras-GTP interaction
  JOURNAL   J Biol Chem 275 (45), 34901-34908 (2000)
   PUBMED   10934204
REFERENCE   10 (residues 1 to 690)
  AUTHORS   Adams MD, Soares MB, Kerlavage AR, Fields C and Venter JC.
  TITLE     Rapid cDNA sequencing (expressed sequence tags) from a
            directionally cloned human infant brain cDNA library
  JOURNAL   Nat Genet 4 (4), 373-380 (1993)
   PUBMED   8401585
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020594.6, BC027849.1,
            DA439087.1, AA351079.1 and BX647990.1.
            
            Summary: The protein encoded by this gene is a guanine nucleotide
            exchange factor that activates the oncogenes HRAS and RAP1A.
            Defects in this gene have been associated with systemic lupus
            erythematosus and several cancers. [provided by RefSeq, Mar 2017].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, and 4-6 all encode the same isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC027849.1, SRR1803612.205107.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..690
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.3"
     Protein         1..690
                     /product="ras guanyl-releasing protein 3 isoform 1"
                     /note="guanine nucleotide exchange factor for Rap1; ras
                     guanyl-releasing protein 3; RAS guanyl releasing protein 3
                     (calcium and DAG-regulated); CalDAG-GEFIII; calcium- and
                     diacylglycerol-regulated guanine nucleotide exchange
                     factor III; calcium and DAG-regulated guanine nucleotide
                     exchange factor III"
                     /calculated_mol_wt=78201
     Region          11..126
                     /region_name="REM"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     GTPases; N-terminal domain (RasGef_N), also called REM
                     domain (Ras exchanger motif). This domain is common in
                     nucleotide exchange factors for Ras-like small GTPases and
                     is typically found immediately...; cd06224"
                     /db_xref="CDD:100121"
     Site            order(22,68,72..73,76,79..80,115..116,119,126)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:100121"
     Region          148..384
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases; smart00147"
                     /db_xref="CDD:214539"
     Site            order(181..183,191..192,194..196,198..199,202..203,206,
                     239,242..243,245..247,249..252,254..255,275,278,283..285,
                     288,301..303,306..308,310..312,314..317,332,336,371,
                     374..375)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     Region          428..479
                     /region_name="EF-hand_7"
                     /note="EF-hand domain pair; pfam13499"
                     /db_xref="CDD:433258"
     Region          488..546
                     /region_name="C1_RASGRP3"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in RAS guanyl-releasing protein 3 (RASGRP3) and
                     similar proteins; cd20862"
                     /db_xref="CDD:410412"
     Site            order(500..506,514..518,521)
                     /site_type="other"
                     /note="putative DAG/PE binding site [chemical binding]"
                     /db_xref="CDD:410412"
     Region          667..690
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IV61.1)"
     CDS             1..690
                     /gene="RASGRP3"
                     /gene_synonym="GRP3"
                     /coded_by="NM_170672.3:629..2701"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS46256.1"
                     /db_xref="GeneID:25780"
                     /db_xref="HGNC:HGNC:14545"
                     /db_xref="MIM:609531"
ORIGIN      
        1 mgssglgkaa tldellctci emfddngeld nsylprivll mhrwylsste laekllcmyr
       61 natgescnef rlkicyfmry wilkfpaefn ldlglirmte efrevasqlg yekhvslidi
      121 ssipsydwmr rvtqrkkvsk kgkacllfdh lepielaehl tflehksfrr isftdyqsyv
      181 ihgclennpt lersialfng iskwvqlmvl skptpqqrae vitkfinvak kllqlknfnt
      241 lmavvgglsh ssisrlketh shlssevtkn wnemtelvss ngnycnyrka fadcdgfkip
      301 ilgvhlkdli avhvifpdwt eenkvnivkm hqlsvtlsel vslqnashhl epnmdlinll
      361 tlsldlyhte ddiyklslvl eprnsksqpt spttpnkpvv plewalgvmp kpdptvinkh
      421 irklvesvfr nydhdhdgyi sqedfesiaa nfpfldsfcv ldkdqdglis kdemmayflr
      481 aksqlhckmg pgfihnfqem tylkptfceh cagflwgiik qgykckdcga nchkqckdll
      541 vlacrrfara pslssghgsl pgspslppaq devfefpgvt aghrdldsra itlvtgssrk
      601 isvrlqratt sqatqtepvw seagwgdsgs htfpkmkskf hdkaakdkgf akwenekprv
      661 hagvdvvdrg tefeldqdeg eetrqdgedg
//
LOCUS       NP_851785                231 aa            linear   PRI 18-DEC-2022
DEFINITION  CKLF-like MARVEL transmembrane domain-containing protein 1 isoform
            14 [Homo sapiens].
ACCESSION   NP_851785
VERSION     NP_851785.2
DBSOURCE    REFSEQ: accession NM_181268.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 231)
  AUTHORS   Si J, Zhang P, Tian D, Wang X, Ma Y, Zhang J, Wang L and Yang Y.
  TITLE     CMTM1_v17 is associated with chemotherapy resistance and poor
            prognosis in non-small cell lung cancer
  JOURNAL   World J Surg Oncol 15 (1), 34 (2017)
   PUBMED   28129775
  REMARK    GeneRIF: High CMTM1_v17 expression was associated with chemotherapy
            resistance in lung cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 231)
  AUTHORS   Delic S, Thuy A, Schulze M, Proescholdt MA, Dietrich P, Bosserhoff
            AK and Riemenschneider MJ.
  TITLE     Systematic investigation of CMTM family genes suggests relevance to
            glioblastoma pathogenesis and CMTM1 and CMTM3 as priority targets
  JOURNAL   Genes Chromosomes Cancer 54 (7), 433-443 (2015)
   PUBMED   25931111
  REMARK    GeneRIF: CMTM1 and 3 are priority targets in glioblastomas. First
            insights into signalling of these two genes that might be conveyed
            by growth factor receptor, Src family kinase and WNT activation was
            presented.
REFERENCE   3  (residues 1 to 231)
  AUTHORS   Wang J, Zhang G, Zhang Y, Luo Y, Song Q, Qiu X, Mo X and Wang L.
  TITLE     CMTM1_v17 is a novel potential therapeutic target in breast cancer
  JOURNAL   Oncol Rep 32 (5), 1829-1836 (2014)
   PUBMED   25175386
  REMARK    GeneRIF: Study shows that CMTM1_v17 is highly expressed in human
            testis and many human tumor tissues and cell lines and seems to
            enhance cell proliferation and resistance to tumor necrosis
            factor-alpha (TNF-alpha)-induced apoptosis in MDA-MB-231 breast
            cancer cells.
REFERENCE   4  (residues 1 to 231)
  AUTHORS   Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML and Seielstad M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 231)
  AUTHORS   Xu M, Yang S, Gao Y, Shi S and Ma D.
  TITLE     A functional promoter region of the CKLFSF2 gene is located in the
            last intron/exon region of the upstream CKLFSF1 gene
  JOURNAL   Int J Biochem Cell Biol 37 (6), 1296-1307 (2005)
   PUBMED   15778092
  REMARK    GeneRIF: novel evidence that the final intron/exon region of the
            CKLFSF1 gene contains a novel eukaryotic promoter capable of
            directing expression of the downstream gene, CKLFSF2
REFERENCE   6  (residues 1 to 231)
  AUTHORS   Wang L, Wu C, Zheng Y, Qiu X, Wang L, Fan H, Han W, Lv B, Wang Y,
            Zhu X, Xu M, Ding P, Cheng S, Zhang Y, Song Q and Ma D.
  TITLE     Molecular cloning and characterization of chemokine-like factor
            super family member 1 (CKLFSF1), a novel human gene with at least
            23 alternative splicing isoforms in testis tissue
  JOURNAL   Int J Biochem Cell Biol 36 (8), 1492-1501 (2004)
   PUBMED   15147728
  REMARK    GeneRIF: gene structure, mapping to chromsome 16, identification of
            altenative transcription start sites, expression in spermatocyte
            and testes
REFERENCE   7  (residues 1 to 231)
  AUTHORS   Han W, Ding P, Xu M, Wang L, Rui M, Shi S, Liu Y, Zheng Y, Chen Y,
            Yang T and Ma D.
  TITLE     Identification of eight genes encoding chemokine-like factor
            superfamily members 1-8 (CKLFSF1-8) by in silico cloning and
            experimental validation
  JOURNAL   Genomics 81 (6), 609-617 (2003)
   PUBMED   12782130
  REMARK    GeneRIF: Bioinformatics based on CKLF2 cDNA and protein sequences
            in combination with experimental validation identified CKLFSF1-8
            gene clusters, between the SCY and the TM4SF gene families. The 8
            family members were cloned and characterized.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010542.7, DN992496.1,
            BC057852.1 and AY174119.1.
            On Jun 8, 2007 this sequence version replaced NP_851785.1.
            
            Summary: This gene belongs to the chemokine-like factor gene
            superfamily, a novel family that is similar to the chemokine and
            the transmembrane 4 superfamilies of signaling molecules. The
            protein encoded by this gene may play an important role in
            testicular development. Alternatively spliced transcript variants
            encoding different isoforms have been identified. Naturally
            occurring read-through transcription occurs between this locus and
            the neighboring locus CKLF (chemokine-like factor).[provided by
            RefSeq, Feb 2011].
            
            Transcript Variant: This variant (18) lacks an exon segment,
            compared to variant 17, which results in a translational frameshift
            in the last coding exon. The encoded isoform (14) is shorter and
            contains a distinct C-terminus, compared to the protein (isoform
            13) encoded by variant 17.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF278576.1, AI671801.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..231
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q21"
     Protein         1..231
                     /product="CKLF-like MARVEL transmembrane domain-containing
                     protein 1 isoform 14"
                     /note="chemokine-like factor-like protein CKLFH1;
                     chemokine-like factor super family 1; CKLF-like MARVEL
                     transmembrane domain-containing protein 1; chemokine-like
                     factor superfamily 1; chemokine-like factor superfamily
                     member 1"
                     /calculated_mol_wt=24990
     Region          131..>208
                     /region_name="MARVEL"
                     /note="Membrane-associating domain; cl04571"
                     /db_xref="CDD:383772"
     Region          138
                     /region_name="alternative start codon"
     CDS             1..231
                     /gene="CMTM1"
                     /gene_synonym="CKLFH; CKLFH1; CKLFSF1"
                     /coded_by="NM_181268.3:76..771"
                     /note="isoform 14 is encoded by transcript variant 18"
                     /db_xref="CCDS:CCDS45504.1"
                     /db_xref="GeneID:113540"
                     /db_xref="HGNC:HGNC:19172"
                     /db_xref="MIM:607884"
ORIGIN      
        1 mdpehakpes seapsgnlkq petaaalass gsvvssvpka qrnisaktap rkhpavsirs
       61 aqsaaaarpq gsegtapsrk attrpppkpt lppptpsaht eskllnemai kervegrakv
      121 pykfrdslkr fsfsptgmlk ilrlslilga lacfiitqan esfititsle icivvffili
      181 yvltlhhllt ylhwplldlt nsiitavfls vvailamqek krrhllyvgg r
//
LOCUS       NP_476502                382 aa            linear   PRI 18-DEC-2022
DEFINITION  kelch domain-containing protein 3 [Homo sapiens].
ACCESSION   NP_476502
VERSION     NP_476502.1
DBSOURCE    REFSEQ: accession NM_057161.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 382)
  AUTHORS   Liu Y, Luo Y, Yan S, Lian YF, Wu S, Xu M, Feng L, Zhang X, Li R,
            Zhang X, Feng QS, Zeng YX and Zhang H.
  TITLE     CRL2KLHDC3 mediates p14ARF N-terminal ubiquitylation degradation to
            promote non-small cell lung carcinoma progression
  JOURNAL   Oncogene 41 (22), 3104-3117 (2022)
   PUBMED   35468939
  REMARK    GeneRIF: CRL2(KLHDC3) mediates p14ARF N-terminal ubiquitylation
            degradation to promote non-small cell lung carcinoma progression.
REFERENCE   2  (residues 1 to 382)
  AUTHORS   Koren I, Timms RT, Kula T, Xu Q, Li MZ and Elledge SJ.
  TITLE     The Eukaryotic Proteome Is Shaped by E3 Ubiquitin Ligases Targeting
            C-Terminal Degrons
  JOURNAL   Cell 173 (7), 1622-1635 (2018)
   PUBMED   29779948
REFERENCE   3  (residues 1 to 382)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (residues 1 to 382)
  AUTHORS   Lin HC, Ho SC, Chen YY, Khoo KH, Hsu PH and Yen HC.
  TITLE     SELENOPROTEINS. CRL2 aids elimination of truncated selenoproteins
            produced by failed UGA/Sec decoding
  JOURNAL   Science 349 (6243), 91-95 (2015)
   PUBMED   26138980
REFERENCE   5  (residues 1 to 382)
  AUTHORS   Bennett EJ, Rush J, Gygi SP and Harper JW.
  TITLE     Dynamics of cullin-RING ubiquitin ligase network revealed by
            systematic quantitative proteomics
  JOURNAL   Cell 143 (6), 951-965 (2010)
   PUBMED   21145461
REFERENCE   6  (residues 1 to 382)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   7  (residues 1 to 382)
  AUTHORS   Ohinata Y, Sutou S and Mitsui Y.
  TITLE     Peas-Mea1-Ppp2r5d overlapping gene complex: a transposon
            mediated-gene formation in mammals
  JOURNAL   DNA Res 10 (2), 79-84 (2003)
   PUBMED   12755172
REFERENCE   8  (residues 1 to 382)
  AUTHORS   Hermey G, Keat SJ, Madsen P, Jacobsen C, Petersen CM and Gliemann
            J.
  TITLE     Characterization of sorCS1, an alternatively spliced receptor with
            completely different cytoplasmic domains that mediate different
            trafficking in cells
  JOURNAL   J Biol Chem 278 (9), 7390-7396 (2003)
   PUBMED   12482870
REFERENCE   9  (residues 1 to 382)
  AUTHORS   Ohinata Y, Sutou S and Mitsui Y.
  TITLE     A novel testis-specific RAG2-like protein, Peas: its expression in
            pachytene spermatocyte cytoplasm and meiotic chromatin
  JOURNAL   FEBS Lett 537 (1-3), 1-5 (2003)
   PUBMED   12606021
  REMARK    GeneRIF: cloned human and mouse Peas cDNAs (hPEAS/mPeas) and
            analyzed their tissue and stage-specific expressions; may be
            involved in meiotic recombination process
REFERENCE   10 (residues 1 to 382)
  AUTHORS   Ohinata Y, Sutou S, Kondo M, Takahashi T and Mitsui Y.
  TITLE     Male-enhanced antigen-1 gene flanked by two overlapping genes is
            expressed in late spermatogenesis
  JOURNAL   Biol Reprod 67 (6), 1824-1831 (2002)
   PUBMED   12444059
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC395338.1 and BC001789.1.
            
            Summary: The protein encoded by this gene contains six repeated
            kelch motifs that are structurally similar to recombination
            activating gene 2, a protein involved in the activation of the
            V(D)J recombination. In mouse, this gene is found to be expressed
            specifically in testis. Its expression in pachytene spermatocytes
            is localized to cytoplasma and meiotic chromatin, suggesting that
            this gene may be involved in meiotic recombination. [provided by
            RefSeq, Jun 2012].
            
            Transcript Variant: This variant (1) encodes the functional
            protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1302.1, SRR1163655.6325.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326974.9/ ENSP00000313995.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..382
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     Protein         1..382
                     /product="kelch domain-containing protein 3"
                     /note="testis intracellular mediator protein"
                     /calculated_mol_wt=42957
     Region          14..62
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          14..61
                     /region_name="Kelch_6"
                     /note="Kelch motif; pfam13964"
                     /db_xref="CDD:404790"
     Region          25..77
                     /region_name="Kelch 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQ90.1)"
     Region          74..>318
                     /region_name="PLN02153"
                     /note="epithiospecifier protein"
                     /db_xref="CDD:177814"
     Region          77..122
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          88..138
                     /region_name="Kelch 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQ90.1)"
     Region          128..173
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          139..189
                     /region_name="Kelch 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQ90.1)"
     Region          180..236
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          191..249
                     /region_name="Kelch 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQ90.1)"
     Region          239..283
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          251..301
                     /region_name="Kelch 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQ90.1)"
     CDS             1..382
                     /gene="KLHDC3"
                     /gene_synonym="dJ20C7.3; PEAS"
                     /coded_by="NM_057161.4:160..1308"
                     /db_xref="CCDS:CCDS4880.1"
                     /db_xref="GeneID:116138"
                     /db_xref="HGNC:HGNC:20704"
                     /db_xref="MIM:611248"
ORIGIN      
        1 mlrwtvhleg gprrvnhaav avghrvysfg gycsgedyet lrqidvhifn avslrwtklp
       61 pvksairgqa pvvpymrygh stvliddtvl lwggrndteg acnvlyafdv nthkwftprv
      121 sgtvpgardg hsacvlgkim yifggyeqqa dcfsndihkl dtstmtwtli ctkgsparwr
      181 dfhsatmlgs hmyvfggrad rfgpfhsnne iycnrirvfd trteawldcp ptpvlpegrr
      241 shsafgynge lyifggynar lnrhfhdlwk fnpvsftwkk iepkgkgpcp rrrqcccivg
      301 dkivlfggts pspeeglgde fdlidhsdlh ildfspslkt lcklaviqyn ldqsclphdi
      361 rwelnamttn snisrpivss hg
//
LOCUS       NP_036384                347 aa            linear   PRI 24-DEC-2022
DEFINITION  transcription factor EC isoform a [Homo sapiens].
ACCESSION   NP_036384
VERSION     NP_036384.1
DBSOURCE    REFSEQ: accession NM_012252.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 347)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   2  (residues 1 to 347)
  AUTHORS   Haq R and Fisher DE.
  TITLE     Biology and clinical relevance of the micropthalmia family of
            transcription factors in human cancer
  JOURNAL   J Clin Oncol 29 (25), 3474-3482 (2011)
   PUBMED   21670463
REFERENCE   3  (residues 1 to 347)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   4  (residues 1 to 347)
  AUTHORS   Kuiper RP, Schepens M, Thijssen J, Schoenmakers EF and van Kessel
            AG.
  TITLE     Regulation of the MiTF/TFE bHLH-LZ transcription factors through
            restricted spatial expression and alternative splicing of
            functional domains
  JOURNAL   Nucleic Acids Res 32 (8), 2315-2322 (2004)
   PUBMED   15118077
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 347)
  AUTHORS   Mansky KC, Sulzbacher S, Purdom G, Nelsen L, Hume DA, Rehli M and
            Ostrowski MC.
  TITLE     The microphthalmia transcription factor and the related
            helix-loop-helix zipper factors TFE-3 and TFE-C collaborate to
            activate the tartrate-resistant acid phosphatase promoter
  JOURNAL   J Leukoc Biol 71 (2), 304-310 (2002)
   PUBMED   11818452
REFERENCE   6  (residues 1 to 347)
  AUTHORS   Chung MC, Kim HK and Kawamoto S.
  TITLE     TFEC can function as a transcriptional activator of the nonmuscle
            myosin II heavy chain-A gene in transfected cells
  JOURNAL   Biochemistry 40 (30), 8887-8897 (2001)
   PUBMED   11467950
  REMARK    GeneRIF: Two alternatively spliced TFEC isoforms have been found to
            be sequence-specific transcriptional activators of the nonmuscle
            myosin II heavy chain-A gene in transfected cells.
REFERENCE   7  (residues 1 to 347)
  AUTHORS   Yasumoto K and Shibahara S.
  TITLE     Molecular cloning of cDNA encoding a human TFEC isoform, a newly
            identified transcriptional regulator
  JOURNAL   Biochim Biophys Acta 1353 (1), 23-31 (1997)
   PUBMED   9256061
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313546.1 and AC096551.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the micropthalmia (MiT)
            family of basic helix-loop-helix leucine zipper transcription
            factors. MiT transcription factors regulate the expression of
            target genes by binding to E-box recognition sequences as homo- or
            heterodimers, and play roles in multiple cellular processes
            including survival, growth and differentiation. The encoded protein
            is a transcriptional activator of the nonmuscle myosin II heavy
            chain-A gene, and may also co-regulate target genes in osteoclasts
            as a heterodimer with micropthalmia-associated transcription
            factor. Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Sep
            2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: D43945.1, AK313546.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265440.12/ ENSP00000265440.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..347
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.2"
     Protein         1..347
                     /product="transcription factor EC isoform a"
                     /note="class E basic helix-loop-helix protein 34"
                     /calculated_mol_wt=38657
     Region          1..119
                     /region_name="Necessary for transcriptional
                     transactivation"
                     /note="propagated from UniProtKB/Swiss-Prot (O14948.1)"
     Region          136..220
                     /region_name="bHLHzip_TFEC"
                     /note="basic Helix-Loop-Helix-zipper (bHLHzip) domain
                     found in transcription factor EC (TFEC) and similar
                     proteins; cd18925"
                     /db_xref="CDD:381495"
     Site            order(144..145,147..148,151..152,156,177..178)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381495"
     Site            order(154..155,158..159,161,165,178,182..183,186,188..190,
                     192..193,195..196,199,202..204)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381495"
     Region          225..344
                     /region_name="DUF3371"
                     /note="Domain of unknown function (DUF3371); pfam11851"
                     /db_xref="CDD:432129"
     Region          271..347
                     /region_name="Necessary for transcriptional
                     transactivation"
                     /note="propagated from UniProtKB/Swiss-Prot (O14948.1)"
     Region          319..347
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14948.1)"
     CDS             1..347
                     /gene="TFEC"
                     /gene_synonym="bHLHe34; hTFEC-L; TCFEC; TFE-C; TFEC-L;
                     TFECL"
                     /coded_by="NM_012252.4:204..1247"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5762.1"
                     /db_xref="GeneID:22797"
                     /db_xref="HGNC:HGNC:11754"
                     /db_xref="MIM:604732"
ORIGIN      
        1 mtldhqiinp tlkwsqpavp sggplvqhah ttldsdaglt enpltkllai gkeddnaqwh
       61 medviediig messfkeega dspllmqrtl sgsildvysg eqgispinmg ltsascpssl
      121 pmkreitetd tralakerqk kdnhnlierr rryninyrik elgtlipksn dpdmrwnkgt
      181 ilkasveyik wlqkeqqrar elehrqkkle qanrrlllri qeleiqarth glptlaslgt
      241 vdlgahvtkq qshpeqnsvd ycqqltvsqg pspelcdqai afsdplsyft dlsfsaalke
      301 eqrldgmlld dtispfgtdp llsatspavs kessrrssfs sddgdel
//
LOCUS       NP_443173                640 aa            linear   PRI 24-DEC-2022
DEFINITION  guanylate-binding protein 4 [Homo sapiens].
ACCESSION   NP_443173
VERSION     NP_443173.2
DBSOURCE    REFSEQ: accession NM_052941.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 640)
  AUTHORS   Britzen-Laurent N, Bauer M, Berton V, Fischer N, Syguda A,
            Reipschlager S, Naschberger E, Herrmann C and Sturzl M.
  TITLE     Intracellular trafficking of guanylate-binding proteins is
            regulated by heterodimerization in a hierarchical manner
  JOURNAL   PLoS One 5 (12), e14246 (2010)
   PUBMED   21151871
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 640)
  AUTHORS   Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML and Seielstad M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 640)
  AUTHORS   Tripal P, Bauer M, Naschberger E, Mortinger T, Hohenadl C, Cornali
            E, Thurau M and Sturzl M.
  TITLE     Unique features of different members of the human guanylate-binding
            protein family
  JOURNAL   J Interferon Cytokine Res 27 (1), 44-52 (2007)
   PUBMED   17266443
REFERENCE   4  (residues 1 to 640)
  AUTHORS   Olszewski MA, Gray J and Vestal DJ.
  TITLE     In silico genomic analysis of the human and murine
            guanylate-binding protein (GBP) gene clusters
  JOURNAL   J Interferon Cytokine Res 26 (5), 328-352 (2006)
   PUBMED   16689661
REFERENCE   5  (residues 1 to 640)
  AUTHORS   Vestal DJ.
  TITLE     The guanylate-binding proteins (GBPs): proinflammatory
            cytokine-induced members of the dynamin superfamily with unique
            GTPase activity
  JOURNAL   J Interferon Cytokine Res 25 (8), 435-443 (2005)
   PUBMED   16108726
  REMARK    Review article
REFERENCE   6  (residues 1 to 640)
  AUTHORS   Han BH, Park DJ, Lim RW, Im JH and Kim HD.
  TITLE     Cloning, expression, and characterization of a novel
            guanylate-binding protein, GBP3 in murine erythroid progenitor
            cells
  JOURNAL   Biochim Biophys Acta 1384 (2), 373-386 (1998)
   PUBMED   9659399
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC008421.1, AF288814.1, BC070055.1, AC104459.2 and CA309701.1.
            On Jun 4, 2003 this sequence version replaced NP_443173.1.
            
            Summary: Guanylate-binding proteins, such as GBP4, are induced by
            interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005
            [PubMed 16108726]).[supplied by OMIM, Dec 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK312417.1, SRR1803613.167664.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355754.7/ ENSP00000359490.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..640
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.2"
     Protein         1..640
                     /product="guanylate-binding protein 4"
                     /note="GBP-4; GTP-binding protein 4; guanine
                     nucleotide-binding protein 4"
                     /calculated_mol_wt=73034
     Region          1..325
                     /region_name="GTPase domain (Globular).
                     /evidence=ECO:0000250|UniProtKB:P32455"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PP9.2)"
     Region          33..296
                     /region_name="GBP"
                     /note="Guanylate-binding protein, N-terminal domain;
                     pfam02263"
                     /db_xref="CDD:426686"
     Site            60..67
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206650"
     Site            order(62..68,82..84,89..90,115,196..197,254)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206650"
     Site            order(79..84,89..96)
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206650"
     Site            90
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206650"
     Site            112..115
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206650"
     Site            order(114..118,129..135,138..140)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206650"
     Site            196..199
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206650"
     Site            252..254
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206650"
     Region          298..594
                     /region_name="GBP_C"
                     /note="Guanylate-binding protein, C-terminal domain;
                     pfam02841"
                     /db_xref="CDD:397124"
     CDS             1..640
                     /gene="GBP4"
                     /gene_synonym="Mpa2"
                     /coded_by="NM_052941.5:109..2031"
                     /db_xref="CCDS:CCDS721.1"
                     /db_xref="GeneID:115361"
                     /db_xref="HGNC:HGNC:20480"
                     /db_xref="MIM:612466"
ORIGIN      
        1 mgertlhaav ptpgypeses immapiclve nqeeqltvns kaleildkis qpvvvvaivg
       61 lyrtgksylm nrlagkrngf plgstvqset kgiwmwcvph lskpnhtlvl ldteglgdve
      121 ksnpkndswi falavllsss fvynsvstin hqaleqlhyv telaelirak scprpdeaed
      181 ssefasffpd fiwtvrdftl elkldgnpit edeylenalk lipgknpkiq nsnmprecir
      241 hffrkrkcfv fdrptndkqy lnhmdevpee nlerhflmqs dnfcsyifth aktktlregi
      301 ivtgkrlgtl vvtyvdains gavpclenav talaqlenpa avqraadhys qqmaqqlrlp
      361 tdtlqelldv haacereaia vfmehsfkde nhefqkklvd tiekkkgdfv lqneeasaky
      421 cqaelkrlse hltesilrgi fsvpgghnly leekkqvewd yklvprkgvk anevlqnflq
      481 sqvvveesil qsdkaltage kaiaaeramk eaaekeqell rekqkeqqqm meaqersfqe
      541 ymaqmekkle eerenllreh erllkhklkv qeemlkeefq kkseqlnkei nqlkekiest
      601 kneqlrllki ldmasnimiv tlpgaskllg vgtkylgsri
//
LOCUS       NP_789788                136 aa            linear   PRI 24-DEC-2022
DEFINITION  glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial [Homo
            sapiens].
ACCESSION   NP_789788 XP_495934
VERSION     NP_789788.1
DBSOURCE    REFSEQ: accession NM_176818.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 136)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 136)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (residues 1 to 136)
  AUTHORS   Echevarria,L., Clemente,P., Hernandez-Sierra,R., Gallardo,M.E.,
            Fernandez-Moreno,M.A. and Garesse,R.
  TITLE     Glutamyl-tRNAGln amidotransferase is essential for mammalian
            mitochondrial translation in vivo
  JOURNAL   Biochem J 460 (1), 91-101 (2014)
   PUBMED   24579914
  REMARK    GeneRIF: The mitochondrial defective phenotype provoked by the
            absence of gatA in human cells is confirmed by means of a deficient
            ability to grow when galactose is used as a carbon source.
REFERENCE   4  (residues 1 to 136)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 136)
  AUTHORS   Nagao A, Suzuki T, Katoh T, Sakaguchi Y and Suzuki T.
  TITLE     Biogenesis of glutaminyl-mt tRNAGln in human mitochondria
  JOURNAL   Proc Natl Acad Sci U S A 106 (38), 16209-16214 (2009)
   PUBMED   19805282
  REMARK    GeneRIF: Studies showed in vitro Gln-tRNA(Gln) formation catalyzed
            by the recombinant mtGluRS and hGatCAB.
REFERENCE   6  (residues 1 to 136)
  AUTHORS   Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha
            S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson
            AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ,
            Metzker ML, Milosavljevic A, Miner GR, Montgomery KT, Morgan MB,
            Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC,
            Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA,
            Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C,
            Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson
            LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari
            M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ,
            Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q,
            Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V,
            Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE,
            Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I,
            Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C,
            Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM,
            Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A,
            Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M,
            Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M,
            Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal
            B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM,
            Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua
            P, Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG,
            Mendez S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E,
            Mitchell T, Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris
            S, Munidasa M, Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO,
            Nwokenkwo S, Obregon M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ,
            Parker DN, Parrish J, Parks KL, Paul HA, Payton BA, Perez A, Perrin
            W, Pickens A, Primus EL, Pu LL, Puazo M, Quiles MM, Quiroz JB,
            Rabata D, Reeves K, Ruiz SJ, Shao H, Sisson I, Sonaike T, Sorelle
            RP, Sutton AE, Svatek AF, Svetz LA, Tamerisa KS, Taylor TR, Teague
            B, Thomas N, Thorn RD, Trejos ZY, Trevino BK, Ukegbu ON, Urban JB,
            Vasquez LI, Vera VA, Villasana DM, Wang L, Ward-Moore S, Warren JT,
            Wei X, White F, Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen
            J, Yoon L, Yoon V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock
            G and Gibbs RA.
  CONSRTM   Baylor College of Medicine Human Genome Sequencing Center Sequence
            Production Team
  TITLE     The finished DNA sequence of human chromosome 12
  JOURNAL   Nature 440 (7082), 346-351 (2006)
   PUBMED   16541075
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL021546.1 and BC107145.1.
            On Aug 30, 2004 this sequence version replaced XP_495934.1.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK094319.1, SRR1660809.103286.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000551765.6/ ENSP00000446872.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..136
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     Protein         1..136
                     /product="glutamyl-tRNA(Gln) amidotransferase subunit C,
                     mitochondrial"
                     /note="glu-AdT subunit C; glutamyl-tRNA(Gln)
                     amidotransferase, subunit C homolog"
                     /calculated_mol_wt=14955
     Region          31..118
                     /region_name="gatC"
                     /note="Asp-tRNA(Asn)/Glu-tRNA(Gln) amidotransferase
                     subunit GatC; PRK00034"
                     /db_xref="CDD:178810"
     CDS             1..136
                     /gene="GATC"
                     /gene_synonym="15E1.2; COXPD42"
                     /coded_by="NM_176818.3:38..448"
                     /db_xref="CCDS:CCDS31911.1"
                     /db_xref="GeneID:283459"
                     /db_xref="HGNC:HGNC:25068"
                     /db_xref="MIM:617210"
ORIGIN      
        1 mwsrlvwlgl raplggrqgf tskadpqgsg ritaaviehl erlalvdfgs reavarleka
       61 iafadrlrav dtdgvepmes vledrclylr sdnvvegnca dellqnshrv veeyfvappg
      121 nislpkldeq epfphs
//
LOCUS       NP_009058                827 aa            linear   PRI 25-DEC-2022
DEFINITION  villin-1 [Homo sapiens].
ACCESSION   NP_009058
VERSION     NP_009058.2
DBSOURCE    REFSEQ: accession NM_007127.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 827)
  AUTHORS   Xu J, Zou J, Wu L and Lu W.
  TITLE     Transcriptome analysis uncovers the diagnostic value of
            miR-192-5p/HNF1A-AS1/VIL1 panel in cervical adenocarcinoma
  JOURNAL   Sci Rep 10 (1), 16584 (2020)
   PUBMED   33024199
  REMARK    GeneRIF: Transcriptome analysis uncovers the diagnostic value of
            miR-192-5p/HNF1A-AS1/VIL1 panel in cervical adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 827)
  AUTHORS   George SP, Esmaeilniakooshkghazi A, Roy S and Khurana S.
  TITLE     F-actin-bundling sites are conserved in proteins with villin-type
            headpiece domains
  JOURNAL   Mol Biol Cell 31 (17), 1857-1866 (2020)
   PUBMED   32520642
  REMARK    GeneRIF: F-actin-bundling sites are conserved in proteins with
            villin-type headpiece domains.
REFERENCE   3  (residues 1 to 827)
  AUTHORS   Roy S, Esmaeilniakooshkghazi A, Patnaik S, Wang Y, George SP,
            Ahrorov A, Hou JK, Herron AJ, Sesaki H and Khurana S.
  TITLE     Villin-1 and Gelsolin Regulate Changes in Actin Dynamics That
            Affect Cell Survival Signaling Pathways and Intestinal Inflammation
  JOURNAL   Gastroenterology 154 (5), 1405-1420 (2018)
   PUBMED   29274870
  REMARK    GeneRIF: Induction of cell stress alters the actin cytoskeleton in
            intestinal epithelial cells via changes in the actin-binding
            proteins villin-1 and gelsolin.
REFERENCE   4  (residues 1 to 827)
  AUTHORS   Zhao L, Huang S, Liu J, Zhao J, Li Q and Wang HQ.
  TITLE     Clinicopathological, radiographic, and oncogenic features of
            primary pulmonary enteric adenocarcinoma in comparison with
            invasive adenocarcinoma in resection specimens
  JOURNAL   Medicine (Baltimore) 96 (39), e8153 (2017)
   PUBMED   28953659
  REMARK    GeneRIF: Villin has a higher positive expression in Primary
            Pulmonary Enteric Adenocarcinoma cases. Villin proved to be a very
            sensitive and helpful enteric marker in the differential diagnosis
            between PEAC and other lung adenocarcinomas.
REFERENCE   5  (residues 1 to 827)
  AUTHORS   Elfeky M, Harb O and Gertallah L.
  TITLE     Panel of Villin, Pro-Ex-C, Estrogen Receptor and Progesterone
            Receptor Expressions Could Help in Differentiation Between
            Endocervical and Endometrioid Adenocarcinoma
  JOURNAL   Turk Patoloji Derg 1 (1), 29-40 (2017)
   PUBMED   28832070
  REMARK    GeneRIF: Villin, Pro-Ex-C and progesterone/estrogen receptor
            expression have diagnostic and predictive roles in endocervical and
            endometrioid adenocarcinoma.
REFERENCE   6  (residues 1 to 827)
  AUTHORS   Pringault E, Robine S and Louvard D.
  TITLE     Structure of the human villin gene
  JOURNAL   Proc Natl Acad Sci U S A 88 (23), 10811-10815 (1991)
   PUBMED   1961750
REFERENCE   7  (residues 1 to 827)
  AUTHORS   Arpin M, Pringault E, Finidori J, Garcia A, Jeltsch JM,
            Vandekerckhove J and Louvard D.
  TITLE     Sequence of human villin: a large duplicated domain homologous with
            other actin-severing proteins and a unique small carboxy-terminal
            domain related to villin specificity
  JOURNAL   J Cell Biol 107 (5), 1759-1766 (1988)
   PUBMED   2846586
REFERENCE   8  (residues 1 to 827)
  AUTHORS   Rousseau-Merck MF, Simon-Chazottes D, Arpin M, Pringault E, Louvard
            D, Guenet JL and Berger R.
  TITLE     Localization of the villin gene on human chromosome 2q35-q36 and on
            mouse chromosome 1
  JOURNAL   Hum Genet 78 (2), 130-133 (1988)
   PUBMED   2892781
REFERENCE   9  (residues 1 to 827)
  AUTHORS   Pringault,E., Arpin,M., Garcia,A., Finidori,J. and Louvard,D.
  TITLE     A human villin cDNA clone to investigate the differentiation of
            intestinal and kidney cells in vivo and in culture
  JOURNAL   EMBO J 5 (12), 3119-3124 (1986)
   PUBMED   3453110
REFERENCE   10 (residues 1 to 827)
  AUTHORS   Hesterberg,L.K. and Weber,K.
  TITLE     Isolation of a domain of villin retaining calcium-dependent
            interaction with G-actin, but devoid of F-actin fragmenting
            activity
  JOURNAL   Eur J Biochem 154 (1), 135-140 (1986)
   PUBMED   3510866
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP329402.1, AK313709.1,
            AK223398.1 and AC073838.6.
            On Jul 24, 2008 this sequence version replaced NP_009058.1.
            
            Summary: This gene encodes a member of a family of
            calcium-regulated actin-binding proteins.  This protein represents
            a dominant part of the brush border cytoskeleton which functions in
            the capping, severing, and bundling of actin filaments.  Two mRNAs
            of 2.7 kb and 3.5 kb have been observed; they result from
            utilization of alternate poly-adenylation signals present in the
            terminal exon. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK313709.1, AK223398.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000248444.10/ ENSP00000248444.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..827
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     Protein         1..827
                     /product="villin-1"
                     /calculated_mol_wt=92564
     Region          2..734
                     /region_name="Core"
                     /note="propagated from UniProtKB/Swiss-Prot (P09327.4)"
     Region          2..126
                     /region_name="Necessary for homodimerization"
                     /note="propagated from UniProtKB/Swiss-Prot (P09327.4)"
     Region          17..121
                     /region_name="gelsolin_S1_like"
                     /note="Gelsolin sub-domain 1-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11290"
                     /db_xref="CDD:200446"
     Site            order(27..28,66,72..73,75..77,79..81,83..84,95,97)
                     /site_type="other"
                     /note="putative actin binding interface [polypeptide
                     binding]"
                     /db_xref="CDD:200446"
     Region          112..119
                     /region_name="LPA/PIP2-binding site 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P09327.4)"
     Region          136..225
                     /region_name="gelsolin_S2_like"
                     /note="Gelsolin sub-domain 2-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11289"
                     /db_xref="CDD:200445"
     Region          138..146
                     /region_name="LPA/PIP2-binding site 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P09327.4)"
     Region          250..348
                     /region_name="gelsolin_S3_like"
                     /note="Gelsolin sub-domain 3-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11292"
                     /db_xref="CDD:200448"
     Site            order(343,348)
                     /site_type="other"
                     /note="putative nucleotide binding site [chemical
                     binding]"
                     /db_xref="CDD:200448"
     Site            366
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P09327.4)"
     Region          392..492
                     /region_name="gelsolin_S4_like"
                     /note="Gelsolin sub-domain 4-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11293"
                     /db_xref="CDD:200449"
     Site            order(408..409,447,453..454,456..458,460..462,464..465,
                     476,478)
                     /site_type="other"
                     /note="putative actin binding interface [polypeptide
                     binding]"
                     /db_xref="CDD:200449"
     Site            483
                     /site_type="other"
                     /note="putative nucleotide binding residue [chemical
                     binding]"
                     /db_xref="CDD:200449"
     Region          513..603
                     /region_name="gelsolin_S5_like"
                     /note="Gelsolin sub-domain 5-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11288"
                     /db_xref="CDD:200444"
     Site            521
                     /site_type="other"
                     /note="putative nucleotide binding residue [chemical
                     binding]"
                     /db_xref="CDD:200444"
     Region          619..715
                     /region_name="gelsolin_S6_like"
                     /note="Gelsolin sub-domain 6-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11291"
                     /db_xref="CDD:200447"
     Region          735..827
                     /region_name="Headpiece"
                     /note="propagated from UniProtKB/Swiss-Prot (P09327.4)"
     Site            735
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q62468; propagated from
                     UniProtKB/Swiss-Prot (P09327.4)"
     Region          792..827
                     /region_name="VHP"
                     /note="Villin headpiece domain; pfam02209"
                     /db_xref="CDD:426660"
     Region          816..824
                     /region_name="LPA/PIP2-binding site 3"
                     /note="propagated from UniProtKB/Swiss-Prot (P09327.4)"
     CDS             1..827
                     /gene="VIL1"
                     /gene_synonym="D2S1471; VIL"
                     /coded_by="NM_007127.3:58..2541"
                     /db_xref="CCDS:CCDS2417.1"
                     /db_xref="GeneID:7429"
                     /db_xref="HGNC:HGNC:12690"
                     /db_xref="MIM:193040"
ORIGIN      
        1 mtklsaqvkg slnittpglq iwrieamqmv pvpsstfgsf fdgdcyiila ihktasslsy
       61 dihywigqds sldeqgaaai yttqmddflk gravqhrevq gneseafrgy fkqglvirkg
      121 gvasgmkhve tnsydvqrll hvkgkrnvva gevemswksf nrgdvflldl gkliiqwngp
      181 estrmerlrg mtlakeirdq erggrtyvgv vdgenelasp klmevmnhvl gkrrelkaav
      241 pdtvvepalk aalklyhvsd segnlvvrev atrpltqdll shedcyildq gglkiyvwkg
      301 kkaneqekkg amshalnfik akqyppstqv evqndgaesa vfqqlfqkwt asnrtsglgk
      361 thtvgsvakv eqvkfdatsm hvkpqvaaqq kmvddgsgev qvwrienlel vpvdskwlgh
      421 fyggdcylll ytyligekqh yllyvwqgsq asqdeitasa yqavildqky ngepvqirvp
      481 mgkepphlms ifkgrmvvyq ggtsrtnnle tgpstrlfqv qgtganntka fevparanfl
      541 nsndvfvlkt qsccylwcgk gcsgderema kmvadtisrt ekqvvvegqe panfwmalgg
      601 kapyantkrl qeenlvitpr lfecsnktgr flateipdfn qddleeddvf lldvwdqvff
      661 wigkhaneee kkaaattaqe ylkthpsgrd petpiivvkq ghepptftgw flawdpfkws
      721 ntksyedlka elgnsrdwsq itaevtspkv dvfnansnls sgplpifple qlvnkpveel
      781 pegvdpsrke ehlsiedftq afgmtpaafs alprwkqqnl kkekglf
//
LOCUS       NP_006629                363 aa            linear   PRI 25-DEC-2022
DEFINITION  ribonuclease P protein subunit p40 isoform a [Homo sapiens].
ACCESSION   NP_006629
VERSION     NP_006629.2
DBSOURCE    REFSEQ: accession NM_006638.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 363)
  AUTHORS   Wu J, Niu S, Tan M, Huang C, Li M, Song Y, Wang Q, Chen J, Shi S,
            Lan P and Lei M.
  TITLE     Cryo-EM Structure of the Human Ribonuclease P Holoenzyme
  JOURNAL   Cell 175 (5), 1393-1404 (2018)
   PUBMED   30454648
REFERENCE   2  (residues 1 to 363)
  AUTHORS   Mattijssen S, Hinson ER, Onnekink C, Hermanns P, Zabel B, Cresswell
            P and Pruijn GJ.
  TITLE     Viperin mRNA is a novel target for the human RNase MRP/RNase P
            endoribonuclease
  JOURNAL   Cell Mol Life Sci 68 (14), 2469-2480 (2011)
   PUBMED   21053045
  REMARK    GeneRIF: Data idenified two cleavage sites for RNase MRP/RNase P in
            the coding sequence of viperin mRNA.
REFERENCE   3  (residues 1 to 363)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   4  (residues 1 to 363)
  AUTHORS   Welting TJ, van Venrooij WJ and Pruijn GJ.
  TITLE     Mutual interactions between subunits of the human RNase MRP
            ribonucleoprotein complex
  JOURNAL   Nucleic Acids Res 32 (7), 2138-2146 (2004)
   PUBMED   15096576
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 363)
  AUTHORS   Jarrous N, Eder PS, Guerrier-Takada C, Hoog C and Altman S.
  TITLE     Autoantigenic properties of some protein subunits of catalytically
            active complexes of human ribonuclease P
  JOURNAL   RNA 4 (4), 407-417 (1998)
   PUBMED   9630247
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX951376.1, BQ220155.1, BC017871.1, BU607286.1 and AL359643.27.
            On Nov 15, 2004 this sequence version replaced NP_006629.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.333008.1,
                                           SRR7410570.258517.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380051.7/ ENSP00000369391.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..363
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.1"
     Protein         1..363
                     /product="ribonuclease P protein subunit p40 isoform a"
                     /EC_number="3.1.26.5"
                     /note="ribonuclease P (40 kD); ribonuclease P, 40kD
                     subunit; ribonuclease P1; ribonuclease P protein subunit
                     p40; RNase P subunit 1; RNaseP protein p40; ribonuclease
                     P/MRP 40kDa subunit"
                     /calculated_mol_wt=41703
     Region          75..343
                     /region_name="Ribonuc_P_40"
                     /note="Ribonuclease P 40kDa (Rpp40) subunit; pfam08584"
                     /db_xref="CDD:430089"
     CDS             1..363
                     /gene="RPP40"
                     /gene_synonym="bA428J1.3; RNASEP1"
                     /coded_by="NM_006638.4:36..1127"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS34333.1"
                     /db_xref="GeneID:10799"
                     /db_xref="HGNC:HGNC:20992"
                     /db_xref="MIM:606117"
ORIGIN      
        1 matlrrlrea prhllvceks nfgnhksrhr hlvqthyyny rvsflipecg ilseelknlv
       61 mntgpyyfvk nlplhelitp efistfikkg scyaltynth idedntvall pngklilsld
      121 kdtyeetglq ghpsqfsgrk imkfivsidl melslnldsk kyeriswsfk ekkplkfdfl
      181 lawhktgsee stmmsyfsky qiqehqpkva lstlrdlqcp vlqsselegt pevscralel
      241 fdwlgavfsn vdlnnepnnf istyccpeps tvvakaylct itgfilpeki clllehlchy
      301 fdepklapwv tlsvqgfads pvsweknehg frkggehlyn fvifnnqdyw lqmavgandh
      361 cpp
//
LOCUS       NP_116281                570 aa            linear   PRI 25-DEC-2022
DEFINITION  FERM domain-containing protein 5 isoform 2 [Homo sapiens].
ACCESSION   NP_116281 NP_001026899
VERSION     NP_116281.2
DBSOURCE    REFSEQ: accession NM_032892.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 570)
  AUTHORS   Lu S, Ma M, Mao X, Bacino CA, Jankovic J, Sutton VR, Bartley JA,
            Wang X, Rosenfeld JA, Beleza-Meireles A, Chauhan J, Pan X, Li M,
            Liu P, Prescott K, Amin S, Davies G, Wangler MF, Dai Y and Bellen
            HJ.
  TITLE     De novo variants in FRMD5 are associated with developmental delay,
            intellectual disability, ataxia, and abnormalities of eye movement
  JOURNAL   Am J Hum Genet 109 (10), 1932-1943 (2022)
   PUBMED   36206744
  REMARK    GeneRIF: De novo variants in FRMD5 are associated with
            developmental delay, intellectual disability, ataxia, and
            abnormalities of eye movement.
REFERENCE   2  (residues 1 to 570)
  AUTHORS   Gawel AM, Ratajczak M, Gajda E, Grzanka M, Paziewska A, Cieslicka
            M, Kulecka M, Oczko-Wojciechowska M and Godlewska M.
  TITLE     Analysis of the Role of FRMD5 in the Biology of Papillary Thyroid
            Carcinoma
  JOURNAL   Int J Mol Sci 22 (13), 6726 (2021)
   PUBMED   34201607
  REMARK    GeneRIF: Analysis of the Role of FRMD5 in the Biology of Papillary
            Thyroid Carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 570)
  AUTHORS   Mao X, Tey SK, Ko FCF, Kwong EML, Gao Y, Ng IO, Cheung ST, Guan XY
            and Yam JWP.
  TITLE     C-terminal truncated HBx protein activates
            caveolin-1/LRP6/beta-catenin/FRMD5 axis in promoting
            hepatocarcinogenesis
  JOURNAL   Cancer Lett 444, 60-69 (2019)
   PUBMED   30583072
  REMARK    GeneRIF: High FRMD5 expression is associated with
            hepatocarcinogenesis.
REFERENCE   4  (residues 1 to 570)
  AUTHORS   Zhu C, Yamaguchi K, Ohsugi T, Terakado Y, Noguchi R, Ikenoue T and
            Furukawa Y.
  TITLE     Identification of FERM domain-containing protein 5 as a novel
            target of beta-catenin/TCF7L2 complex
  JOURNAL   Cancer Sci 108 (4), 612-619 (2017)
   PUBMED   28117551
  REMARK    GeneRIF: Data show that FERM domain-containing protein 5 (FRMD5) is
            regulated by both beta-catenin and transcription factor 7-Like 2
            protein (TCF7L2) in colon cancer cells.
REFERENCE   5  (residues 1 to 570)
  AUTHORS   Guo T, Yin RX, Pan L, Yang S, Miao L and Huang F.
  TITLE     Integrative variants, haplotypes and diplotypes of the CAPN3 and
            FRMD5 genes and several environmental exposures associate with
            serum lipid variables
  JOURNAL   Sci Rep 7, 45119 (2017)
   PUBMED   28332615
  REMARK    GeneRIF: We conclude that integrative variants, haplotypes and
            diplotypes of the CAPN3 rs4344713 and FRMD5 rs524908, as well as
            DBP and BMI are associated with serum lipid variables in the Jing
            and Han populations.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 570)
  AUTHORS   Hu J, Niu M, Li X, Lu D, Cui J, Xu W, Li G, Zhan J and Zhang H.
  TITLE     FERM domain-containing protein FRMD5 regulates cell motility via
            binding to integrin beta5 subunit and ROCK1
  JOURNAL   FEBS Lett 588 (23), 4348-4356 (2014)
   PUBMED   25448675
  REMARK    GeneRIF: FRMD5 regulates tumor cell motility via a dual pathway
            involving FRMD5 binding to integrin beta5 tail and to ROCK1
REFERENCE   7  (residues 1 to 570)
  AUTHORS   Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni
            S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS,
            Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R,
            Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K,
            Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K,
            Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen
            M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson
            PKE, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte
            IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena
            R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ,
            Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik
            EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher
            D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL,
            Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney ASF, Doring
            A, Elliott P, Epstein SE, Ingi Eyjolfsson G, Gigante B, Goodarzi
            MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL,
            Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones
            MR, Kaleebu P, Kastelein JJP, Khaw KT, Kim E, Klopp N, Komulainen
            P, Kumari M, Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos
            RJF, Mach F, McArdle WL, Meisinger C, Mitchell BD, Muller G,
            Nagaraja R, Narisu N, Nieminen TVM, Nsubuga RN, Olafsson I, Ong KK,
            Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP,
            Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl
            H, Seeley J, Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret
            L, Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga
            C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH,
            Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud
            M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier
            M, Campbell H, Chakravarti A, Chambers JC, Chen YI, Collins FS,
            Cooper RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrieres
            J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V,
            Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN,
            Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K,
            Iribarren C, Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A,
            Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J,
            Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz
            W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L,
            Morris AD, Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller
            PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D,
            Salomaa V, Sanghera DK, Saramies J, Schwarz PEH, Sheu WH, Shuldiner
            AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO,
            Tremoli E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P,
            Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BHR, Ordovas
            JM, Boerwinkle E, Palmer CNA, Thorsteinsdottir U, Chasman DI,
            Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS,
            Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E and
            Abecasis GR.
  CONSRTM   Global Lipids Genetics Consortium
  TITLE     Discovery and refinement of loci associated with lipid levels
  JOURNAL   Nat Genet 45 (11), 1274-1283 (2013)
   PUBMED   24097068
REFERENCE   8  (residues 1 to 570)
  AUTHORS   Wang T, Pei X, Zhan J, Hu J, Yu Y and Zhang H.
  TITLE     FERM-containing protein FRMD5 is a p120-catenin interacting protein
            that regulates tumor progression
  JOURNAL   FEBS Lett 586 (19), 3044-3050 (2012)
   PUBMED   22846708
  REMARK    GeneRIF: FRMD5 may play a role in p120-catenin-based cell-cell
            contact and is involved in the regulation of tumor progression
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY049131.1, BC053647.1, DA276649.1 and AC023356.8.
            On or before May 5, 2006 this sequence version replaced
            NP_001026899.1, NP_116281.1.
            
            Transcript Variant: This variant (2) encodes the longest isoform
            (2).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.103366.1, BC053647.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000417257.6/ ENSP00000403067.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..570
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.3"
     Protein         1..570
                     /product="FERM domain-containing protein 5 isoform 2"
                     /note="FERM domain-containing protein 5"
                     /calculated_mol_wt=64934
     Region          19..210
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          191..295
                     /region_name="FERM_C_FRMD3_FRMD5"
                     /note="FERM domain C-lobe of FERM domain-containing
                     protein 3 and 5 (FRMD3 and 5); cd13192"
                     /db_xref="CDD:270013"
     Site            order(214,231,233,239)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270013"
     Site            order(243,248..251,284,288,291..292)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270013"
     Site            284..295
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270013"
     Region          308..353
                     /region_name="Interaction with ROCK1.
                     /evidence=ECO:0000269|PubMed:25448675"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6J6.1)"
     Region          309..>343
                     /region_name="FA"
                     /note="FERM adjacent (FA); pfam08736"
                     /db_xref="CDD:430180"
     Region          344..367
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6J6.1)"
     Site            375
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6P5H6; propagated from
                     UniProtKB/Swiss-Prot (Q7Z6J6.1)"
     Region          385..407
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6J6.1)"
     Site            504..524
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6J6.1)"
     CDS             1..570
                     /gene="FRMD5"
                     /gene_synonym="NEDEMA"
                     /coded_by="NM_032892.5:218..1930"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS10107.2"
                     /db_xref="GeneID:84978"
                     /db_xref="HGNC:HGNC:28214"
                     /db_xref="MIM:616309"
ORIGIN      
        1 mlsrlmsgss rslereysct vrllddseyt ctiqrdakgq ylfdllchhl nllekdyfgi
       61 rfvdpdkqrh wleftksvvk qlrsqppftm cfrvkfypad paalkeeitr ylvflqikrd
      121 lyhgrllckt sdaallaayi lqaeigdyds gkhpegyssk fqffpkhsek lerkiaeihk
      181 telsgqtpat selnflrkaq tletygvdph pckdvsgnaa flaftpfgfv vlqgnkrvhf
      241 ikwnevtklk fegktfylyv sqkeekkiil tyfaptpeac khlwkcgien qafyklekss
      301 qvrtvsssnl ffkgsrfrys grvakevmes sakikreppe ihragmvpsr scpsithgpr
      361 lssvprtrrr avhisimegl eslrdsahst pvrstshgdt flphvrssrt dsnervavia
      421 deayspadsv lptpvaehsl elmllsrqin gatcsieeek eseastptat evealggelr
      481 alcqghsgpe eeqvnkfvls vlrlllvtmg llfvllllli iltesdldia ffrdirqtpe
      541 feqfhyqyfc plrrwfacki rsvvsllidt
//
LOCUS       NP_001252542             331 aa            linear   PRI 26-DEC-2022
DEFINITION  myosin-binding protein H-like isoform 2 [Homo sapiens].
ACCESSION   NP_001252542
VERSION     NP_001252542.1
DBSOURCE    REFSEQ: accession NM_001265613.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 331)
  AUTHORS   Wong KY, Morgan GJ, Boyle EM, Cheng ASL, Yip KY and Chim CS.
  TITLE     A proof-of-concept study for the pathogenetic role of enhancer
            hypomethylation of MYBPHL in multiple myeloma
  JOURNAL   Sci Rep 11 (1), 7009 (2021)
   PUBMED   33772052
  REMARK    GeneRIF: A proof-of-concept study for the pathogenetic role of
            enhancer hypomethylation of MYBPHL in multiple myeloma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 331)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 331)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 331)
  AUTHORS   Lahm H, Dressen M, Beck N, Doppler S, Deutsch MA, Matsushima S, Neb
            I, Konig KC, Sideris K, Voss S, Eschenbach L, Puluca N, Deisenhofer
            I, Doll S, Holdenrieder S, Mann M, Lange R and Krane M.
  TITLE     Myosin binding protein H-like (MYBPHL): a promising biomarker to
            predict atrial damage
  JOURNAL   Sci Rep 9 (1), 9986 (2019)
   PUBMED   31292467
  REMARK    GeneRIF: Myosin binding protein H-like (MYBPHL): a promising
            biomarker to predict atrial damage.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 331)
  AUTHORS   Barefield DY, Puckelwartz MJ, Kim EY, Wilsbacher LD, Vo AH, Waters
            EA, Earley JU, Hadhazy M, Dellefave-Castillo L, Pesce LL and
            McNally EM.
  TITLE     Experimental Modeling Supports a Role for MyBP-HL as a Novel
            Myofilament Component in Arrhythmia and Dilated Cardiomyopathy
  JOURNAL   Circulation 136 (16), 1477-1491 (2017)
   PUBMED   28778945
  REMARK    GeneRIF: MYBPHL truncations may increase risk for human arrhythmias
            and cardiomyopathy.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC144471.1 and AL390252.9.
            
            Summary: This gene encodes a protein with two immunoglobulin
            superfamily domains and a fibronectin 3 domain. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, May 2012].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region compared to variant 1. The
            resulting protein (isoform 2) is shorter compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC144471.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..331
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     Protein         1..331
                     /product="myosin-binding protein H-like isoform 2"
                     /calculated_mol_wt=36120
     Region          62..>120
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          71..75
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          84..88
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          108..112
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          123..212
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(123,188,203)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(204..205,207..208)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          238..327
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          255..259
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          268..272
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          293..297
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          307..312
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          320..323
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..331
                     /gene="MYBPHL"
                     /coded_by="NM_001265613.2:21..1016"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:343263"
                     /db_xref="HGNC:HGNC:30434"
                     /db_xref="MIM:619807"
ORIGIN      
        1 meaatapeva agsklkvkea spadaeppqa spgqgagspt pqllppieeh pkiwlpralr
       61 qtyirkvgdt vnllipfqgk pkpqaiwthd gcaldtrrvs vrngeqdsil fireaqrads
      121 erpgppqsik lvdvwgfsat lewtppqdtg ntallgytvq kadtksglwf tvlehyhrts
      181 civsdliign syafrvfaen qcglsetapi ttdlahiqka atvyktkgfa qrdfseapkf
      241 tqpladcttv tgyntqlfcc vrasprpkii wlknkmdiqg npkyralthl gicsleirkp
      301 gpfdggiytc kavnplgeas vdcrvdvkvp n
//
LOCUS       NP_001238850             165 aa            linear   PRI 26-DEC-2022
DEFINITION  ras-related protein Rap-1b isoform 3 [Homo sapiens].
ACCESSION   NP_001238850
VERSION     NP_001238850.1
DBSOURCE    REFSEQ: accession NM_001251921.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 165)
  AUTHORS   Chen S, Li QH, Chen X, Bao HJ, Wu W, Shen F, Lu BF, Jiang RQ, Zong
            ZH and Zhao Y.
  TITLE     SNORA70E promotes the occurrence and development of ovarian cancer
            through pseudouridylation modification of RAP1B and alternative
            splicing of PARPBP
  JOURNAL   J Cell Mol Med 26 (20), 5150-5164 (2022)
   PUBMED   36056690
  REMARK    GeneRIF: SNORA70E promotes the occurrence and development of
            ovarian cancer through pseudouridylation modification of RAP1B and
            alternative splicing of PARPBP.
REFERENCE   2  (residues 1 to 165)
  AUTHORS   Wang L, Song X, Yu L, Liu B, Ma J and Yang W.
  TITLE     LINC00665 Facilitates the Malignant Processes of Osteosarcoma by
            Increasing the RAP1B Expression via Sponging miR-708 and miR-142-5p
  JOURNAL   Anal Cell Pathol (Amst) 2021, 5525711 (2021)
   PUBMED   34306997
  REMARK    GeneRIF: LINC00665 Facilitates the Malignant Processes of
            Osteosarcoma by Increasing the RAP1B Expression via Sponging
            miR-708 and miR-142-5p.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 165)
  AUTHORS   Niemann JH, Du C, Morlot S, Schmidt G, Auber B, Kaune B, Gohring G,
            Ripperger T, Schlegelberger B, Hofmann W, Smol T, Ait-Yahya E,
            Raimbault A, Lambilliotte A, Petit F and Steinemann D.
  TITLE     De novo missense variants in the RAP1B gene identified in two
            patients with syndromic thrombocytopenia
  JOURNAL   Clin Genet 98 (4), 374-378 (2020)
   PUBMED   32627184
  REMARK    GeneRIF: De novo missense variants in the RAP1B gene identified in
            two patients with syndromic thrombocytopenia.
REFERENCE   4  (residues 1 to 165)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 165)
  AUTHORS   Kawata M, Farnsworth CC, Yoshida Y, Gelb MH, Glomset JA and Takai
            Y.
  TITLE     Posttranslationally processed structure of the human platelet
            protein smg p21B: evidence for geranylgeranylation and carboxyl
            methylation of the C-terminal cysteine
  JOURNAL   Proc Natl Acad Sci U S A 87 (22), 8960-8964 (1990)
   PUBMED   2123345
REFERENCE   6  (residues 1 to 165)
  AUTHORS   Siess W, Winegar DA and Lapetina EG.
  TITLE     Rap1-B is phosphorylated by protein kinase A in intact human
            platelets
  JOURNAL   Biochem Biophys Res Commun 170 (2), 944-950 (1990)
   PUBMED   1696481
REFERENCE   7  (residues 1 to 165)
  AUTHORS   Matsui Y, Kikuchi A, Kawata M, Kondo J, Teranishi Y and Takai Y.
  TITLE     Molecular cloning of smg p21B and identification of smg p21
            purified from bovine brain and human platelets as smg p21B
  JOURNAL   Biochem Biophys Res Commun 166 (2), 1010-1016 (1990)
   PUBMED   2105724
REFERENCE   8  (residues 1 to 165)
  AUTHORS   Rousseau-Merck MF, Pizon V, Tavitian A and Berger R.
  TITLE     Chromosome mapping of the human RAS-related RAP1A, RAP1B, and RAP2
            genes to chromosomes 1p12----p13, 12q14, and 13q34, respectively
  JOURNAL   Cytogenet Cell Genet 53 (1), 2-4 (1990)
   PUBMED   2108841
REFERENCE   9  (residues 1 to 165)
  AUTHORS   Bokoch GM, Parkos CA and Mumby SM.
  TITLE     Purification and characterization of the 22,000-dalton GTP-binding
            protein substrate for ADP-ribosylation by botulinum toxin, G22K
  JOURNAL   J Biol Chem 263 (32), 16744-16749 (1988)
   PUBMED   3141412
REFERENCE   10 (residues 1 to 165)
  AUTHORS   Pizon V, Lerosey I, Chardin P and Tavitian A.
  TITLE     Nucleotide sequence of a human cDNA encoding a ras-related protein
            (rap1B)
  JOURNAL   Nucleic Acids Res 16 (15), 7719 (1988)
   PUBMED   3137530
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB448914.1, AK298818.1,
            AJ420497.1, CX868584.1, AC015550.19 and AC090061.15.
            
            Summary: This gene encodes a member of the RAS-like small
            GTP-binding protein superfamily. Members of this family regulate
            multiple cellular processes including cell adhesion and growth and
            differentiation. This protein localizes to cellular membranes and
            has been shown to regulate integrin-mediated cell signaling. This
            protein also plays a role in regulating outside-in signaling in
            platelets. Alternate splicing results in multiple transcript
            variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6
            and 9. [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (5) differs in the 5' UTR and
            lacks an in-frame exon in the coding region, compared to variant 1.
            The encoded isoform (3) is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.258115.1, AK298818.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..165
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q15"
     Protein         1..165
                     /product="ras-related protein Rap-1b isoform 3"
                     /EC_number="3.6.5.2"
                     /note="RAS-related protein RAP1B; ras-related protein
                     Rap-1b; small GTP binding protein; Ras family small GTP
                     binding protein RAP1B; GTP-binding protein smg p21B"
                     /calculated_mol_wt=18647
     Region          3..148
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            10..17
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206648"
     Site            order(12..18,97..98,100,128..130)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206648"
     Site            35
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206648"
     Site            38..40
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206648"
     Site            97..100
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206648"
     Site            128..130
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206648"
     CDS             1..165
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /coded_by="NM_001251921.2:172..669"
                     /note="isoform 3 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS58253.1"
                     /db_xref="GeneID:5908"
                     /db_xref="HGNC:HGNC:9857"
                     /db_xref="MIM:179530"
ORIGIN      
        1 mreyklvvlg sggvgksalt vqfvqgifve kydptiedsy rkeqftamrd lymkngqgfa
       61 lvysitaqst fndlqdlreq ilrvkdtddv pmilvgnkcd ledervvgke qgqnlarqwn
      121 ncaflessak skinvneify dlvrqinrkt pvpgkarkks scqll
//
LOCUS       NP_001338443             310 aa            linear   PRI 27-DEC-2022
DEFINITION  cytotoxic granule associated RNA binding protein TIA1 isoform 9
            [Homo sapiens].
ACCESSION   NP_001338443 XP_016860280
VERSION     NP_001338443.1
DBSOURCE    REFSEQ: accession NM_001351514.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 310)
  AUTHORS   Sekiyama N, Takaba K, Maki-Yonekura S, Akagi KI, Ohtani Y, Imamura
            K, Terakawa T, Yamashita K, Inaoka D, Yonekura K, Kodama TS and
            Tochio H.
  TITLE     ALS mutations in the TIA-1 prion-like domain trigger highly
            condensed pathogenic structures
  JOURNAL   Proc Natl Acad Sci U S A 119 (38), e2122523119 (2022)
   PUBMED   36112647
  REMARK    GeneRIF: ALS mutations in the TIA-1 prion-like domain trigger
            highly condensed pathogenic structures.
REFERENCE   2  (residues 1 to 310)
  AUTHORS   Bertuzzi C, Germinario G, Righi S, Ravaioli M, Agostinelli C,
            Pession A, D'Errico A, Sabattini E and Vasuri F.
  TITLE     The role of peritumoral CD8 + /TIA1 + lymphocytes in hepatocellular
            carcinoma aggressiveness and recurrence after surgical resection
  JOURNAL   Pathol Res Pract 237, 154016 (2022)
   PUBMED   35872367
  REMARK    GeneRIF: The role of peritumoral CD8 + /TIA1 + lymphocytes in
            hepatocellular carcinoma aggressiveness and recurrence after
            surgical resection.
REFERENCE   3  (residues 1 to 310)
  AUTHORS   Li MZ, Liu EJ, Zhou QZ, Li SH, Liu SJ, Yu HT, Pan QH, Sun F, He T,
            Wang WJ, Ke D, Feng YQ, Li J and Wang JZ.
  TITLE     Intracellular accumulation of tau inhibits autophagosome formation
            by activating TIA1-amino acid-mTORC1 signaling
  JOURNAL   Mil Med Res 9 (1), 38 (2022)
   PUBMED   35799293
  REMARK    GeneRIF: Intracellular accumulation of tau inhibits autophagosome
            formation by activating TIA1-amino acid-mTORC1 signaling.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 310)
  AUTHORS   Fernandez-Gomez A and Izquierdo JM.
  TITLE     The Multifunctional Faces of T-Cell Intracellular Antigen 1 in
            Health and Disease
  JOURNAL   Int J Mol Sci 23 (3), 1400 (2022)
   PUBMED   35163320
  REMARK    GeneRIF: The Multifunctional Faces of T-Cell Intracellular Antigen
            1 in Health and Disease.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 310)
  AUTHORS   Peng G, Gu A, Niu H, Chen L, Chen Y, Zhou M, Zhang Y, Liu J, Cai L,
            Liang D, Liu X and Liu M.
  TITLE     Amyotrophic lateral sclerosis (ALS) linked mutation in Ubiquilin 2
            affects stress granule assembly via TIA-1
  JOURNAL   CNS Neurosci Ther 28 (1), 105-115 (2022)
   PUBMED   34750982
  REMARK    GeneRIF: Amyotrophic lateral sclerosis (ALS) linked mutation in
            Ubiquilin 2 affects stress granule assembly via TIA-1.
REFERENCE   6  (residues 1 to 310)
  AUTHORS   Tian Q, Taupin J, Elledge S, Robertson M and Anderson P.
  TITLE     Fas-activated serine/threonine kinase (FAST) phosphorylates TIA-1
            during Fas-mediated apoptosis
  JOURNAL   J Exp Med 182 (3), 865-874 (1995)
   PUBMED   7544399
REFERENCE   7  (residues 1 to 310)
  AUTHORS   Herve-Minvielle A and Sara SJ.
  TITLE     Rapid habituation of auditory responses of locus coeruleus cells in
            anaesthetized and awake rats
  JOURNAL   Neuroreport 6 (10), 1363-1368 (1995)
   PUBMED   7488725
REFERENCE   8  (residues 1 to 310)
  AUTHORS   Kawakami A, Tian Q, Streuli M, Poe M, Edelhoff S, Disteche CM and
            Anderson P.
  TITLE     Intron-exon organization and chromosomal localization of the human
            TIA-1 gene
  JOURNAL   J Immunol 152 (10), 4937-4945 (1994)
   PUBMED   8176212
REFERENCE   9  (residues 1 to 310)
  AUTHORS   Tian Q, Streuli M, Saito H, Schlossman SF and Anderson P.
  TITLE     A polyadenylate binding protein localized to the granules of
            cytolytic lymphocytes induces DNA fragmentation in target cells
  JOURNAL   Cell 67 (3), 629-639 (1991)
   PUBMED   1934064
REFERENCE   10 (residues 1 to 310)
  AUTHORS   Anderson P, Nagler-Anderson C, O'Brien C, Levine H, Watkins S,
            Slayter HS, Blue ML and Schlossman SF.
  TITLE     A monoclonal antibody reactive with a 15-kDa cytoplasmic
            granule-associated protein defines a subpopulation of CD8+ T
            lymphocytes
  JOURNAL   J Immunol 144 (2), 574-582 (1990)
   PUBMED   2104899
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016700.8.
            On May 12, 2017 this sequence version replaced XP_016860280.1.
            
            Summary: The product encoded by this gene is a member of a
            RNA-binding protein family and possesses nucleolytic activity
            against cytotoxic lymphocyte (CTL) target cells. It has been
            suggested that this protein may be involved in the induction of
            apoptosis as it preferentially recognizes poly(A) homopolymers and
            induces DNA fragmentation in CTL targets. The major
            granule-associated species is a 15-kDa protein that is thought to
            be derived from the carboxyl terminus of the 40-kDa product by
            proteolytic processing. Alternative splicing resulting in different
            isoforms has been found for this gene. [provided by RefSeq, May
            2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.934634.1,
                                           SRR14038195.973208.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..310
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     Protein         1..310
                     /product="cytotoxic granule associated RNA binding protein
                     TIA1 isoform 9"
                     /note="p40-TIA-1 (containing p15-TIA-1); T-cell-restricted
                     intracellular antigen-1; cytotoxic granule associated RNA
                     binding protein TIA1"
                     /calculated_mol_wt=34431
     Region          <1..>303
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     Region          28..105
                     /region_name="RRM2_TIA1"
                     /note="RNA recognition motif 2 (RRM2) found in nucleolysin
                     TIA-1 isoform p40 (p40-TIA-1) and similar proteins;
                     cd12618"
                     /db_xref="CDD:410030"
     Site            order(40,42,44,48,51,55..56)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:410030"
     Region          138..210
                     /region_name="RRM3_TIAR"
                     /note="RNA recognition motif 3 (RRM3) found in nucleolysin
                     TIAR and similar proteins; cd12620"
                     /db_xref="CDD:241064"
     CDS             1..310
                     /gene="TIA1"
                     /gene_synonym="ALS26; TIA-1; WDM"
                     /coded_by="NM_001351514.2:297..1229"
                     /note="isoform 9 is encoded by transcript variant 9"
                     /db_xref="GeneID:7072"
                     /db_xref="HGNC:HGNC:11802"
                     /db_xref="MIM:603518"
ORIGIN      
        1 mngrkimgke vkvnwattps sqkkdtsnhf hvfvgdlspe ittedikaaf apfgrisdar
       61 vvkdmatgks kgygfvsffn kwdaenaiqq mggqwlggrq irtnwatrkp papkstyesn
      121 tkqlsydevv nqsspsnctv ycggvtsglt eqlmrqtfsp fgqimeirvf pdkgysfvrf
      181 nshesaahai vsvngttieg hvvkcywgke tldminpvqq qnqigypqpy gqwgqwygna
      241 qqigqympng wqvpaygmyg qawnqqgfnq tqssapwmgp nygvqppqgq ngsmlpnqps
      301 gyrvagyetq
//
LOCUS       NP_001337199             547 aa            linear   PRI 27-DEC-2022
DEFINITION  protein BHLHb9 isoform Bhlhb9 [Homo sapiens].
ACCESSION   NP_001337199
VERSION     NP_001337199.1
DBSOURCE    REFSEQ: accession NM_001350270.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 547)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 547)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 547)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 547)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 547)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam
            S, MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 547)
  AUTHORS   Prakash T, Sharma VK, Adati N, Ozawa R, Kumar N, Nishida Y,
            Fujikake T, Takeda T and Taylor TD.
  TITLE     Expression of conjoined genes: another mechanism for gene
            regulation in eukaryotes
  JOURNAL   PLoS One 5 (10), e13284 (2010)
   PUBMED   20967262
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 547)
  AUTHORS   Goehler H, Lalowski M, Stelzl U, Waelter S, Stroedicke M, Worm U,
            Droege A, Lindenberg KS, Knoblich M, Haenig C, Herbst M, Suopanki
            J, Scherzinger E, Abraham C, Bauer B, Hasenbank R, Fritzsche A,
            Ludewig AH, Bussow K, Coleman SH, Gutekunst CA, Landwehrmeyer BG,
            Lehrach H and Wanker EE.
  TITLE     A protein interaction network links GIT1, an enhancer of huntingtin
            aggregation, to Huntington's disease
  JOURNAL   Mol Cell 15 (6), 853-865 (2004)
   PUBMED   15383276
  REMARK    Erratum:[Mol Cell. 2005 Jul 22;19(2):287. Buessow, Konrad
            [corrected to Bussow, Konrad]]
REFERENCE   8  (residues 1 to 547)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   9  (residues 1 to 547)
  AUTHORS   Simonin F, Karcher P, Boeuf JJ, Matifas A and Kieffer BL.
  TITLE     Identification of a novel family of G protein-coupled receptor
            associated sorting proteins
  JOURNAL   J Neurochem 89 (3), 766-775 (2004)
   PUBMED   15086532
REFERENCE   10 (residues 1 to 547)
  AUTHORS   Heese K, Yamada T, Akatsu H, Yamamoto T, Kosaka K, Nagai Y and
            Sawada T.
  TITLE     Characterizing the new transcription regulator protein p60TRP
  JOURNAL   J Cell Biochem 91 (5), 1030-1042 (2004)
   PUBMED   15034937
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL035427.17.
            
            Summary: This locus represents naturally occurring readthrough
            transcription among the adjacent armadillo repeat containing,
            X-linked 5 (ARMCX5), G protein-coupled receptor associated sorting
            proteins 1 and 2 (GPRASP1 and GPRASP2), basic helix-loop-helix
            family member b9 (BHLHB9), and long intergenic non-protein coding
            RNA 630 (LINC00630) genes on chromosome X. Transcripts may make use
            of multiple alternative promoters and polyadenylation signals in
            this region. Readthrough transcripts may produce proteins identical
            to the proteins encoded by GPRASP2 or BHLHB9. [provided by RefSeq,
            Apr 2017].
            
            Transcript Variant: This variant (8) incorporates exons from
            GPRASP2 and BHLHB9 and encodes the same protein as BHLHB9.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: BC041409.2, SRR1803614.159404.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1968832, SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            readthrough transcript :: includes exons from GeneID 9737, 64860,
                                      80823, 114928, 100287765
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..547
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     Protein         1..547
                     /product="protein BHLHb9 isoform Bhlhb9"
                     /note="G-protein coupled receptor-associated sorting
                     protein 2; protein BHLHb9; ARMCX5-GPRASP2-BHLHB9-LINC00630
                     readthrough; transcription regulator of 60 kDa"
                     /calculated_mol_wt=60160
     Region          1..32
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PI77.1)"
     Region          80..102
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PI77.1)"
     Region          320..541
                     /region_name="Arm_2"
                     /note="Armadillo-like; pfam04826"
                     /db_xref="CDD:428145"
     CDS             1..547
                     /gene="ARMCX5-GPRASP2"
                     /gene_synonym="ARMCX5-GPRASP2-BHLHB9-LINC00630; bHLHb9;
                     GPRASP3; p60TRP"
                     /coded_by="NM_001350270.1:1034..2677"
                     /note="isoform Bhlhb9 is encoded by transcript variant 8"
                     /db_xref="GeneID:100528062"
                     /db_xref="HGNC:HGNC:42000"
ORIGIN      
        1 magtknktra qaktekkaai qakagaerea tgvvrpvakt rakakaktgs ktdavaemka
       61 vsknkvvaet kegalsepkt lgkamgdftp kagnestsst ckneagtdaw fwageeatin
      121 swfwngeeag nsfstkndkp eigaqvcaee lepaagadck prsgaeeeee envignwfwe
      181 gddtsfdpnp kpvsrivkpq pvyeineknr pkdwsevtiw pnapavtpav lgfrsqapse
      241 asppsyivla saeenacslp vatacrpsrn trscsqpipe crfdsdpciq tideirrqir
      301 irevngikpf acpckmecym dseefeklvs llksttdpli hkiariamgv hnvhpfaqef
      361 inevgvvtli esllsfpspe mrkktvitln ppsgderqrk ielhvkhmck etmsfplnsp
      421 gqqsglkilg qlttdfvhhy ivanyfself hllssgnckt rnlvlkllln msenptaard
      481 minmkalaal klifnqkeak anlvsgvaif inikehirkg sivvvdhlsy ntlmaifrev
      541 keiietm
//
LOCUS       NP_001307776             136 aa            linear   PRI 27-DEC-2022
DEFINITION  thialysine N-epsilon-acetyltransferase isoform 4 [Homo sapiens].
ACCESSION   NP_001307776 XP_005256489
VERSION     NP_001307776.1
DBSOURCE    REFSEQ: accession NM_001320847.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 136)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 136)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 136)
  AUTHORS   Prescott J, Thompson DJ, Kraft P, Chanock SJ, Audley T, Brown J,
            Leyland J, Folkerd E, Doody D, Hankinson SE, Hunter DJ, Jacobs KB,
            Dowsett M, Cox DG, Easton DF and De Vivo I.
  TITLE     Genome-wide association study of circulating estradiol,
            testosterone, and sex hormone-binding globulin in postmenopausal
            women
  JOURNAL   PLoS One 7 (6), e37815 (2012)
   PUBMED   22675492
REFERENCE   4  (residues 1 to 136)
  AUTHORS   Guey LT, Garcia-Closas M, Murta-Nascimento C, Lloreta J, Palencia
            L, Kogevinas M, Rothman N, Vellalta G, Calle ML, Marenne G, Tardon
            A, Carrato A, Garcia-Closas R, Serra C, Silverman DT, Chanock S,
            Real FX and Malats N.
  CONSRTM   EPICURO/Spanish Bladder Cancer Study investigators
  TITLE     Genetic susceptibility to distinct bladder cancer subphenotypes
  JOURNAL   Eur Urol 57 (2), 283-292 (2010)
   PUBMED   19692168
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 136)
  AUTHORS   Hosgood HD 3rd, Menashe I, He X, Chanock S and Lan Q.
  TITLE     PTEN identified as important risk factor of chronic obstructive
            pulmonary disease
  JOURNAL   Respir Med 103 (12), 1866-1870 (2009)
   PUBMED   19625176
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 136)
  AUTHORS   Gornati R, Chini V, Rimoldi S, Meregalli M, Schiaffino E and
            Bernardini G.
  TITLE     Evaluation of SAT-1, SAT-2 and GalNAcT-1 mRNA in colon cancer by
            real-time PCR
  JOURNAL   Mol Cell Biochem 298 (1-2), 59-68 (2007)
   PUBMED   17119850
  REMARK    GeneRIF: The expression of three messengers coding for SAT-1, SAT-2
            and GalNAcT-1 in human samples of intestinal cancer and some cell
            lines (breast cancer and melanomas), was evaluated.
REFERENCE   7  (residues 1 to 136)
  AUTHORS   Han BW, Bingman CA, Wesenberg GE and Phillips GN Jr.
  TITLE     Crystal structure of Homo sapiens thialysine
            Nepsilon-acetyltransferase (HsSSAT2) in complex with acetyl
            coenzyme A
  JOURNAL   Proteins 64 (1), 288-293 (2006)
   PUBMED   16596569
  REMARK    GeneRIF: Crystallization of this protein and its recombinant form
            and its complexation with coenzyme A.
REFERENCE   8  (residues 1 to 136)
  AUTHORS   Barrios-Rodiles M, Brown KR, Ozdamar B, Bose R, Liu Z, Donovan RS,
            Shinjo F, Liu Y, Dembowy J, Taylor IW, Luga V, Przulj N, Robinson
            M, Suzuki H, Hayashizaki Y, Jurisica I and Wrana JL.
  TITLE     High-throughput mapping of a dynamic signaling network in mammalian
            cells
  JOURNAL   Science 307 (5715), 1621-1625 (2005)
   PUBMED   15761153
REFERENCE   9  (residues 1 to 136)
  AUTHORS   Coleman CS, Stanley BA, Jones AD and Pegg AE.
  TITLE     Spermidine/spermine-N1-acetyltransferase-2 (SSAT2) acetylates
            thialysine and is not involved in polyamine metabolism
  JOURNAL   Biochem J 384 (Pt 1), 139-148 (2004)
   PUBMED   15283699
REFERENCE   10 (residues 1 to 136)
  AUTHORS   Chen Y, Vujcic S, Liang P, Diegelman P, Kramer DL and Porter CW.
  TITLE     Genomic identification and biochemical characterization of a second
            spermidine/spermine N1-acetyltransferase
  JOURNAL   Biochem J 373 (Pt 3), 661-667 (2003)
   PUBMED   12803540
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP317593.1, BG748008.1, BC011751.2 and BC065922.1.
            On Mar 9, 2016 this sequence version replaced XP_005256489.1.
            
            Transcript Variant: This variant (4) uses an alternate 5' terminal
            exon and lacks an alternate in-frame exon in the central coding
            region, compared to variant 1. These differences result in a novel
            5' UTR and the use of an alternate start codon, compared to variant
            1. The encoded isoform (4) has a distinct N-terminus, and is
            shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.213199.1,
                                           SRR1163655.669288.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..136
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     Protein         1..136
                     /product="thialysine N-epsilon-acetyltransferase isoform
                     4"
                     /EC_number="2.3.1.57"
                     /note="diamine N-acetyltransferase 2; polyamine
                     N-acetyltransferase 2; diamine acetyltransferase 2;
                     thialysine N-epsilon-acetyltransferase;
                     spermidine/spermine N(1)-acetyltransferase 2"
                     /calculated_mol_wt=14925
     Region          <68..110
                     /region_name="Acetyltransf_1"
                     /note="Acetyltransferase (GNAT) family; pfam00583"
                     /db_xref="CDD:395465"
     CDS             1..136
                     /gene="SAT2"
                     /gene_synonym="SSAT-2; SSAT2"
                     /coded_by="NM_001320847.2:187..597"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS82055.1"
                     /db_xref="GeneID:112483"
                     /db_xref="HGNC:HGNC:23160"
                     /db_xref="MIM:611463"
ORIGIN      
        1 masvrireak egdcgdilrl irelaefekl sdqvkiseea lradgfgdnp fyhclvaeil
       61 papgkllgqg igskiikkva evaldkgcsq frlavldwnq ramdlykalg aqdlteaegw
      121 hffcfqgeat rklagk
//
LOCUS       NP_001363429             910 aa            linear   PRI 27-DEC-2022
DEFINITION  DENN domain-containing protein 2B isoform 5 [Homo sapiens].
ACCESSION   NP_001363429
VERSION     NP_001363429.1
DBSOURCE    REFSEQ: accession NM_001376500.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 910)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 910)
  AUTHORS   Kim MK, Kim B, Kwon JO, Song MK, Jung S, Lee ZH and Kim HH.
  TITLE     ST5 Positively Regulates Osteoclastogenesis via Src/Syk/calcium
            Signaling Pathways
  JOURNAL   Mol Cells 42 (11), 810-819 (2019)
   PUBMED   31707778
  REMARK    GeneRIF: Findings provide evidence of suppression of tumorigenicity
            5 (ST5) involvement in positive regulation of osteoclastogenesis
            via src Kinases (Src)/Syk Kinase (Syk)/calcium signaling.
REFERENCE   3  (residues 1 to 910)
  AUTHORS   Ioannou MS, Kulasekaran G, Fotouhi M, Morein JJ, Han C, Tse S,
            Nossova N, Han T, Mannard E and McPherson PS.
  TITLE     Intersectin-s interaction with DENND2B facilitates recycling of
            epidermal growth factor receptor
  JOURNAL   EMBO Rep 18 (12), 2119-2130 (2017)
   PUBMED   29030480
  REMARK    GeneRIF: Here, we discover that intersectin-s binds DENND2B, a
            guanine nucleotide exchange factor for the exocytic GTPase Rab13,
            and this interaction promotes recycling of ligand-free EGFR to the
            cell surface.  Our study thus reveals a novel mechanism controlling
            the fate of internalized EGFR with important implications for
            cancer.
REFERENCE   4  (residues 1 to 910)
  AUTHORS   Ioannou MS, Bell ES, Girard M, Chaineau M, Hamlin JN, Daubaras M,
            Monast A, Park M, Hodgson L and McPherson PS.
  TITLE     DENND2B activates Rab13 at the leading edge of migrating cells and
            promotes metastatic behavior
  JOURNAL   J Cell Biol 208 (5), 629-648 (2015)
   PUBMED   25713415
  REMARK    GeneRIF: DENND2B interacts with the Rab13 effector MICAL-L2 at the
            cell periphery, and this interaction is required for the dynamic
            remodeling of the cell's leading edge.
REFERENCE   5  (residues 1 to 910)
  AUTHORS   Geller F, Feenstra B, Carstensen L, Pers TH, van Rooij IA, Korberg
            IB, Choudhry S, Karjalainen JM, Schnack TH, Hollegaard MV, Feitz
            WF, Roeleveld N, Hougaard DM, Hirschhorn JN, Franke L, Baskin LS,
            Nordenskjold A, van der Zanden LF and Melbye M.
  TITLE     Genome-wide association analyses identify variants in developmental
            genes associated with hypospadias
  JOURNAL   Nat Genet 46 (9), 957-963 (2014)
   PUBMED   25108383
REFERENCE   6  (residues 1 to 910)
  AUTHORS   Majidi M, Gutkind JS and Lichy JH.
  TITLE     Deletion of the COOH terminus converts the ST5 p70 protein from an
            inhibitor of RAS signaling to an activator with transforming
            activity in NIH-3T3 cells
  JOURNAL   J Biol Chem 275 (9), 6560-6565 (2000)
   PUBMED   10692462
REFERENCE   7  (residues 1 to 910)
  AUTHORS   Hubbs AE, Majidi M and Lichy JH.
  TITLE     Expression of an isoform of the novel signal transduction protein
            ST5 is linked to cell morphology
  JOURNAL   Oncogene 18 (15), 2519-2525 (1999)
   PUBMED   10229203
REFERENCE   8  (residues 1 to 910)
  AUTHORS   Majidi M, Hubbs AE and Lichy JH.
  TITLE     Activation of extracellular signal-regulated kinase 2 by a novel
            Abl-binding protein, ST5
  JOURNAL   J Biol Chem 273 (26), 16608-16614 (1998)
   PUBMED   9632734
REFERENCE   9  (residues 1 to 910)
  AUTHORS   Lichy JH, Majidi M, Elbaum J and Tsai MM.
  TITLE     Differential expression of the human ST5 gene in HeLa-fibroblast
            hybrid cell lines mediated by YY1: evidence that YY1 plays a part
            in tumor suppression
  JOURNAL   Nucleic Acids Res 24 (23), 4700-4708 (1996)
   PUBMED   8972856
REFERENCE   10 (residues 1 to 910)
  AUTHORS   Lichy JH, Modi WS, Seuanez HN and Howley PM.
  TITLE     Identification of a human chromosome 11 gene which is
            differentially regulated in tumorigenic and nontumorigenic somatic
            cell hybrids of HeLa cells
  JOURNAL   Cell Growth Differ 3 (8), 541-548 (1992)
   PUBMED   1390339
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026894.7 and AC091053.11.
            
            Summary: This gene was identified by its ability to suppress the
            tumorigenicity of Hela cells in nude mice. The protein encoded by
            this gene contains a C-terminal region that shares similarity with
            the Rab 3 family of small GTP binding proteins. This protein
            preferentially binds to the SH3 domain of c-Abl kinase, and acts as
            a regulator of MAPK1/ERK2 kinase, which may contribute to its
            ability to reduce the tumorigenic phenotype in cells. Three
            alternatively spliced transcript variants of this gene encoding
            distinct isoforms are identified. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.280005.1,
                                           SRR14038192.2487097.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..910
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..910
                     /product="DENN domain-containing protein 2B isoform 5"
                     /note="DENN/MADD domain containing 2B; suppression of
                     tumorigenicity 5 protein; heLa tumor suppression 1"
                     /calculated_mol_wt=102544
     Region          470..557
                     /region_name="uDENN"
                     /note="Domain always found upstream of DENN domain, found
                     in a variety of signalling proteins; smart00800"
                     /db_xref="CDD:214824"
     Region          565..748
                     /region_name="DENN"
                     /note="Domain found in a variety of signalling proteins,
                     always encircled by uDENN and dDENN; smart00799"
                     /db_xref="CDD:214823"
     Region          796..862
                     /region_name="dDENN"
                     /note="Domain always found downstream of DENN domain,
                     found in a variety of signalling proteins; smart00801"
                     /db_xref="CDD:129037"
     CDS             1..910
                     /gene="DENND2B"
                     /gene_synonym="HTS1; p126; ST5"
                     /coded_by="NM_001376500.1:363..3095"
                     /note="isoform 5 is encoded by transcript variant 9"
                     /db_xref="GeneID:6764"
                     /db_xref="HGNC:HGNC:11350"
                     /db_xref="MIM:140750"
ORIGIN      
        1 msrtfsecsy peteeegeal pvrdsfyrle krlgrsepsa flrghgsrke ssavlsriqk
       61 ieqvlkeqpg rglpqlpssc ysvdrgkrkt gtlgsleepa ggasvsagsr avgvagvage
      121 agppperegs gstkpgtpgn spssqrlpsk ssldpavnpv pkpkrtfeye adknpkskps
      181 nglppsptpa appplpstpa ppvtrrpkkd mrghrksqsr ksfefedass lqslypsspt
      241 engtenqpkf gskstleena yedivgdlpk enpyedvdlk srragrksqq lsensldslh
      301 rmwspqdrky nspptqlslk pnsqslrsgn wserkshrlp rlpkrhshdd mlllaqlslp
      361 sspsslneds lsttsellss rrarripklv qrinsiynak rgkkrlkkls mssietaslr
      421 densesesds ddrfkahtqr lvhiqsmlkr apsyrtlele llewqerelf eyfvvvslkk
      481 kpsrntylpe vsyqfpkldr ptkqmreaee rlkaipqfcf pdakdwlpvs eyssetfsfm
      541 ltgedgsrrf gycrrllpsg kgprlpevyc visrlgcfgl fskvldever rrgisaalvy
      601 pfmrslmesp fpapgktikv ktflpgagne vlelrrpmds rlehvdfecl ftclsvrqli
      661 rifaslller rvifvadkls tlsscshavv allypfswqh tfipvlpasm idivccptpf
      721 lvgllssslp klkelpveea lmvnlgsdrf irqmddedtl lprklqaale qalerkneli
      781 sqdsdsdsdd ecntlnglvs evfirffvet vghyslfltq sekgerafqr eafrksvask
      841 sirrflevfm esqmfagfiq drelrkcrak glfeqrveqy leelpdteqs gmnkflrglg
      901 nkmkflhkkn
//
LOCUS       NP_006823                680 aa            linear   PRI 27-DEC-2022
DEFINITION  fermitin family homolog 2 isoform 1 [Homo sapiens].
ACCESSION   NP_006823
VERSION     NP_006823.1
DBSOURCE    REFSEQ: accession NM_006832.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 680)
  AUTHORS   Xia W, Gao Z, Jiang X, Jiang L, Qin Y, Zhang D, Tian P, Wang W,
            Zhang Q, Zhang R, Zhang N and Xu S.
  TITLE     Alzheimer's risk factor FERMT2 promotes the progression of
            colorectal carcinoma via Wnt/beta-catenin signaling pathway and
            contributes to the negative correlation between Alzheimer and
            cancer
  JOURNAL   PLoS One 17 (12), e0278774 (2022)
   PUBMED   36480537
  REMARK    GeneRIF: Alzheimer's risk factor FERMT2 promotes the progression of
            colorectal carcinoma via Wnt/beta-catenin signaling pathway and
            contributes to the negative correlation between Alzheimer and
            cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 680)
  AUTHORS   Ma L, Tian Y, Qian T, Li W, Liu C, Chu B, Kong Q, Cai R, Bai P, Ma
            L, Deng Y, Tian R, Wu C and Sun Y.
  TITLE     Kindlin-2 promotes Src-mediated tyrosine phosphorylation of
            androgen receptor and contributes to breast cancer progression
  JOURNAL   Cell Death Dis 13 (5), 482 (2022)
   PUBMED   35595729
  REMARK    GeneRIF: Kindlin-2 promotes Src-mediated tyrosine phosphorylation
            of androgen receptor and contributes to breast cancer progression.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 680)
  AUTHORS   Chen Z, Shen K, Zheng Z, Zhou J, Zhao S, Song H, Liu J, Zhao X, Liu
            F and Zuo Q.
  TITLE     Kindlin-2 Promotes Chondrogenesis and Ameliorates IL-1beta-Induced
            Inflammation in Chondrocytes Cocultured with BMSCs in the Direct
            Contact Coculture System
  JOURNAL   Oxid Med Cell Longev 2022, 3156245 (2022)
   PUBMED   35450413
  REMARK    GeneRIF: Kindlin-2 Promotes Chondrogenesis and Ameliorates
            IL-1beta-Induced Inflammation in Chondrocytes Cocultured with BMSCs
            in the Direct Contact Coculture System.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 680)
  AUTHORS   Huang S, Liao J, Luo X, Liu F, Shi G and Wen W.
  TITLE     Kindlin-2 promoted the progression of keloids through the Smad
            pathway and Fas/FasL pathway
  JOURNAL   Exp Cell Res 408 (1), 112813 (2021)
   PUBMED   34492266
  REMARK    GeneRIF: Kindlin-2 promoted the progression of keloids through the
            Smad pathway and Fas/FasL pathway.
REFERENCE   5  (residues 1 to 680)
  AUTHORS   Cui Q, Wang C, Liu S, Du R, Tian S, Chen R, Geng H, Subramanian S,
            Niu Y, Wang Y and Yue D.
  TITLE     YBX1 knockdown induces renal cell carcinoma cell apoptosis via
            Kindlin-2
  JOURNAL   Cell Cycle 20 (22), 2413-2427 (2021)
   PUBMED   34709966
  REMARK    GeneRIF: YBX1 knockdown induces renal cell carcinoma cell apoptosis
            via Kindlin-2.
REFERENCE   6  (residues 1 to 680)
  AUTHORS   Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC,
            South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M,
            Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A,
            Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E,
            Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S,
            Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F,
            Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA
            and Epstein EH.
  TITLE     Loss of kindlin-1, a human homolog of the Caenorhabditis elegans
            actin-extracellular-matrix linker protein UNC-112, causes Kindler
            syndrome
  JOURNAL   Am J Hum Genet 73 (1), 174-187 (2003)
   PUBMED   12789646
REFERENCE   7  (residues 1 to 680)
  AUTHORS   Weinstein EJ, Bourner M, Head R, Zakeri H, Bauer C and Mazzarella
            R.
  TITLE     URP1: a member of a novel family of PH and FERM domain-containing
            membrane-associated proteins is significantly over-expressed in
            lung and colon carcinomas
  JOURNAL   Biochim Biophys Acta 1637 (3), 207-216 (2003)
   PUBMED   12697302
REFERENCE   8  (residues 1 to 680)
  AUTHORS   Tu Y, Wu S, Shi X, Chen K and Wu C.
  TITLE     Migfilin and Mig-2 link focal adhesions to filamin and the actin
            cytoskeleton and function in cell shape modulation
  JOURNAL   Cell 113 (1), 37-47 (2003)
   PUBMED   12679033
REFERENCE   9  (residues 1 to 680)
  AUTHORS   Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C,
            Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A,
            Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H,
            Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon
            O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere
            F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R,
            Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A,
            Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S,
            Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C,
            Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S,
            Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C,
            Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P,
            Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois
            M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V,
            Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J,
            Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F,
            Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F,
            Waterston R, Hood L and Weissenbach J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
REFERENCE   10 (residues 1 to 680)
  AUTHORS   Wick M, Burger C, Brusselbach S, Lucibello FC and Muller R.
  TITLE     Identification of serum-inducible genes: different patterns of gene
            regulation during G0-->S and G1-->S progression
  JOURNAL   J Cell Sci 107 (Pt 1), 227-239 (1994)
   PUBMED   8175911
  REMARK    Erratum:[J Cell Sci. 1994 Mar;107 ( Pt 3):preceding table of
            contents. PMID: 8006057]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC017327.2, BX161467.1, AL139317.5 and BC011125.1.
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.163956.1,
                                           SRR1660805.118251.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000341590.8/ ENSP00000340391.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..680
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.1"
     Protein         1..680
                     /product="fermitin family homolog 2 isoform 1"
                     /note="pleckstrin homology domain containing, family C
                     (with FERM domain) member 1; mitogen inducible gene 2
                     protein; pleckstrin homology domain containing, family C
                     member 1; kindlin 2; PH domain-containing family C member
                     1; fermitin family homolog 2; mitogen inducible gene-2;
                     fermitin family member 2"
                     /calculated_mol_wt=77730
     Region          17..96
                     /region_name="FERM_F0_KIND2"
                     /note="FERM (Four.1 protein, Ezrin, Radixin, Moesin)
                     domain, F0 sub-domain, found in kindlin-2 (KIND2);
                     cd17181"
                     /db_xref="CDD:340701"
     Region          40..81
                     /region_name="Interaction with membranes containing
                     phosphatidylinositol phosphate"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96AC1.1)"
     Region          97..277
                     /region_name="FERM_F1_KIND2"
                     /note="FERM (Four.1 protein, Ezrin, Radixin, Moesin)
                     domain, F1 sub-domain, found in kindlin-2 (KIND2);
                     cd17184"
                     /db_xref="CDD:340704"
     Region          141..165
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96AC1.1)"
     Site            159
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q96AC1.1)"
     Site            181
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96AC1.1)"
     Region          <241..>324
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Site            339
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q96AC1.1)"
     Site            351
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q96AC1.1)"
     Region          373..497
                     /region_name="PH_fermitin"
                     /note="Fermitin family pleckstrin homology (PH) domain;
                     cd01237"
                     /db_xref="CDD:269943"
     Site            order(381,383,385,389..391,393,406,408,419)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:269943"
     Region          <484..573
                     /region_name="FERM_M"
                     /note="FERM central domain; pfam00373"
                     /db_xref="CDD:425644"
     Region          567..658
                     /region_name="FERM_C_fermitin"
                     /note="FERM domain C-lobe of the Fermitin family; cd13205"
                     /db_xref="CDD:270026"
     Site            order(577,595,597,605)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270026"
     Site            order(609,614..617,647,651,654..655)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270026"
     Site            647..658
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270026"
     Site            666
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q96AC1.1)"
     CDS             1..680
                     /gene="FERMT2"
                     /gene_synonym="KIND2; mig-2; MIG2; PLEKHC1; UNC112;
                     UNC112B"
                     /coded_by="NM_006832.3:140..2182"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9713.1"
                     /db_xref="GeneID:10979"
                     /db_xref="HGNC:HGNC:15767"
                     /db_xref="MIM:607746"
ORIGIN      
        1 maldgirmpd gcyadgtwel svhvtdlnrd vtlrvtgevh iggvmlklve kldvkkdwsd
       61 halwwekkrt wllkthwtld kygiqadakl qftpqhkllr lqlpnmkyvk vkvnfsdrvf
      121 kavsdicktf nirhpeelsl lkkprdptkk kkkklddqse dealelegpl itpgsgsiys
      181 spglysktmt ptydahdgsp lsptsawfgd salsegnpgi lavsqpitsp eilakmfkpq
      241 alldkakinq gwldssrslm eqdvkeneal llrfkyysff dlnpkydair inqlyeqakw
      301 ailleeiect eeemmmfaal qyhinklsim tsenhlnnsd kevdevdaal sdleitlegg
      361 ktstilgdit sipeladyik vfkpkkltlk gykqywctfk dtsiscyksk eessgtpahq
      421 mnlrgcevtp dvnisgqkfn ikllipvaeg mneiwlrcdn ekqyahwmaa crlaskgktm
      481 adssynlevq nilsflkmqh lnpdpqlipe qittditpec lvsprylkky knkqitaril
      541 eahqnvaqms lieakmrfiq awqslpefgi thfiarfqgg kkeeligiay nrlirmdast
      601 gdaiktwrfs nmkqwnvnwe ikmvtvefad evrlsficte vdckvvhefi ggyiflstra
      661 kdqnesldee mfykltsgwv
//
LOCUS       NP_001358283             241 aa            linear   PRI 27-DEC-2022
DEFINITION  B-cell receptor-associated protein 29 isoform b [Homo sapiens].
ACCESSION   NP_001358283
VERSION     NP_001358283.1
DBSOURCE    REFSEQ: accession NM_001371354.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 241)
  AUTHORS   Tang Y, Qin F, Liu A and Li H.
  TITLE     Recurrent fusion RNA DUS4L-BCAP29 in non-cancer human tissues and
            cells
  JOURNAL   Oncotarget 8 (19), 31415-31423 (2017)
   PUBMED   28415823
  REMARK    GeneRIF: we believe that in contrast to traditional gene fusions,
            DUS4L-BCAP29 cannot be used as a cancer biomarker. Instead, it is a
            fusion transcript that exists in normal physiology and that its
            pro-growth effect is not unique to cancer cells.
REFERENCE   2  (residues 1 to 241)
  CONSRTM   Coronary Artery Disease (C4D) Genetics Consortium
  TITLE     A genome-wide association study in Europeans and South Asians
            identifies five new loci for coronary artery disease
  JOURNAL   Nat Genet 43 (4), 339-344 (2011)
   PUBMED   21378988
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 241)
  AUTHORS   Evangelou E, Valdes AM, Kerkhof HJ, Styrkarsdottir U, Zhu Y,
            Meulenbelt I, Lories RJ, Karassa FB, Tylzanowski P, Bos SD, Akune
            T, Arden NK, Carr A, Chapman K, Cupples LA, Dai J, Deloukas P,
            Doherty M, Doherty S, Engstrom G, Gonzalez A, Halldorsson BV,
            Hammond CL, Hart DJ, Helgadottir H, Hofman A, Ikegawa S, Ingvarsson
            T, Jiang Q, Jonsson H, Kaprio J, Kawaguchi H, Kisand K, Kloppenburg
            M, Kujala UM, Lohmander LS, Loughlin J, Luyten FP, Mabuchi A,
            McCaskie A, Nakajima M, Nilsson PM, Nishida N, Ollier WE,
            Panoutsopoulou K, van de Putte T, Ralston SH, Rivadeneira F,
            Saarela J, Schulte-Merker S, Shi D, Slagboom PE, Sudo A, Tamm A,
            Tamm A, Thorleifsson G, Thorsteinsdottir U, Tsezou A, Wallis GA,
            Wilkinson JM, Yoshimura N, Zeggini E, Zhai G, Zhang F, Jonsdottir
            I, Uitterlinden AG, Felson DT, van Meurs JB, Stefansson K,
            Ioannidis JP and Spector TD.
  CONSRTM   arcOGEN Consortium; Translation Research in Europe Applied
            Technologies for Osteoarthritis (TreatOA)
  TITLE     Meta-analysis of genome-wide association studies confirms a
            susceptibility locus for knee osteoarthritis on chromosome 7q22
  JOURNAL   Ann Rheum Dis 70 (2), 349-355 (2011)
   PUBMED   21068099
  REMARK    GeneRIF: Meta-analysis and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   4  (residues 1 to 241)
  AUTHORS   Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M and
            Tokunaga K.
  TITLE     An approach based on a genome-wide association study reveals
            candidate loci for narcolepsy
  JOURNAL   Hum Genet 128 (4), 433-441 (2010)
   PUBMED   20677014
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 241)
  AUTHORS   Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML and Seielstad M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 241)
  AUTHORS   Foster LJ, Zeemann PA, Li C, Mann M, Jensen ON and Kassem M.
  TITLE     Differential expression profiling of membrane proteins by
            quantitative proteomics in a human mesenchymal stem cell line
            undergoing osteoblast differentiation
  JOURNAL   Stem Cells 23 (9), 1367-1377 (2005)
   PUBMED   16210410
REFERENCE   7  (residues 1 to 241)
  AUTHORS   Schamel WW, Kuppig S, Becker B, Gimborn K, Hauri HP and Reth M.
  TITLE     A high-molecular-weight complex of membrane proteins BAP29/BAP31 is
            involved in the retention of membrane-bound IgD in the endoplasmic
            reticulum
  JOURNAL   Proc Natl Acad Sci U S A 100 (17), 9861-9866 (2003)
   PUBMED   12886015
REFERENCE   8  (residues 1 to 241)
  AUTHORS   Suzuki H, Fukunishi Y, Kagawa I, Saito R, Oda H, Endo T, Kondo S,
            Bono H, Okazaki Y and Hayashizaki Y.
  TITLE     Protein-protein interaction panel using mouse full-length cDNAs
  JOURNAL   Genome Res 11 (10), 1758-1765 (2001)
   PUBMED   11591653
REFERENCE   9  (residues 1 to 241)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   10 (residues 1 to 241)
  AUTHORS   Kim KM, Adachi T, Nielsen PJ, Terashima M, Lamers MC, Kohler G and
            Reth M.
  TITLE     Two new proteins preferentially associated with membrane
            immunoglobulin D
  JOURNAL   EMBO J 13 (16), 3793-3800 (1994)
   PUBMED   8070407
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004839.1.
            
            Transcript Variant: This variant (7), as well as variants 2 and 6,
            encodes isoform b.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.381076.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..241
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.3"
     Protein         1..241
                     /product="B-cell receptor-associated protein 29 isoform b"
                     /note="BCR-associated protein 29"
                     /calculated_mol_wt=28189
     Region          1..129
                     /region_name="Bap31"
                     /note="B-cell receptor-associated protein 31-like;
                     pfam05529"
                     /db_xref="CDD:428511"
     Site            7..27
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHQ4.2)"
     Site            44..64
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHQ4.2)"
     Site            104..124
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHQ4.2)"
     Region          185..239
                     /region_name="Bap31_Bap29_C"
                     /note="Bap31/Bap29 cytoplasmic coiled-coil domain;
                     pfam18035"
                     /db_xref="CDD:436226"
     Region          198..223
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHQ4.2)"
     Region          238..241
                     /region_name="Di-lysine motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHQ4.2)"
     CDS             1..241
                     /gene="BCAP29"
                     /gene_synonym="B29; BAP29"
                     /coded_by="NM_001371354.1:184..909"
                     /note="isoform b is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS34731.1"
                     /db_xref="GeneID:55973"
                     /db_xref="HGNC:HGNC:24131"
                     /db_xref="MIM:619612"
ORIGIN      
        1 mtlqwaavat flyaeiglil ifclpfippq rwqkifsfnv wgkiatfwnk afltiiilli
       61 vlfldavrev rkyssvhtie ksstsrpday ehtqmklfrs qrnlyisgfs lffwlvlrrl
      121 vtlitqlake lsnkgvlktq aentnkaakk fmeeneklkr ilkshgkdee cvleaenkkl
      181 vedqeklkte lrktsdalsk aqndvmemkm qserlskeyd qllkehselq drlergnkkr
      241 l
//
LOCUS       NP_001336769             690 aa            linear   PRI 28-DEC-2022
DEFINITION  centrosomal protein of 78 kDa isoform h [Homo sapiens].
ACCESSION   NP_001336769
VERSION     NP_001336769.1
DBSOURCE    REFSEQ: accession NM_001349840.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 690)
  AUTHORS   Zhang X, Zheng R, Liang C, Liu H, Zhang X, Ma Y, Liu M, Zhang W,
            Yang Y, Liu M, Jiang C, Ren Q, Wang Y, Chen S, Yang Y and Shen Y.
  TITLE     Loss-of-function mutations in CEP78 cause male infertility in
            humans and mice
  JOURNAL   Sci Adv 8 (40), eabn0968 (2022)
   PUBMED   36206347
  REMARK    GeneRIF: Loss-of-function mutations in CEP78 cause male infertility
            in humans and mice.
REFERENCE   2  (residues 1 to 690)
  AUTHORS   Lahteenoja L, Hakli S, Tuupanen S, Kuismin O, Palosaari T,
            Rahikkala E and Falck A.
  TITLE     A novel frameshift variant in CEP78 associated with nonsyndromic
            retinitis pigmentosa, and a review of CEP78-related phenotypes
  JOURNAL   Ophthalmic Genet 43 (2), 152-158 (2022)
   PUBMED   35240912
  REMARK    GeneRIF: A novel frameshift variant in CEP78 associated with
            nonsyndromic retinitis pigmentosa, and a review of CEP78-related
            phenotypes.
            Review article
REFERENCE   3  (residues 1 to 690)
  AUTHORS   Igelman AD, Ku C, da Palma MM, Georgiou M, Schiff ER, Lam BL,
            Sankila EM, Ahn J, Pyers L, Vincent A, Ferraz Sallum JM, Zein WM,
            Oh JK, Maldonado RS, Ryu J, Tsang SH, Gorin MB, Webster AR,
            Michaelides M, Yang P and Pennesi ME.
  TITLE     Expanding the clinical phenotype in patients with disease causing
            variants associated with atypical Usher syndrome
  JOURNAL   Ophthalmic Genet 42 (6), 664-673 (2021)
   PUBMED   34223797
  REMARK    GeneRIF: Expanding the clinical phenotype in patients with disease
            causing variants associated with atypical Usher syndrome.
REFERENCE   4  (residues 1 to 690)
  AUTHORS   Goncalves AB, Hasselbalch SK, Joensen BB, Patzke S, Martens P,
            Ohlsen SK, Quinodoz M, Nikopoulos K, Suleiman R, Damso Jeppesen MP,
            Weiss C, Christensen ST, Rivolta C, Andersen JS, Farinelli P and
            Pedersen LB.
  TITLE     CEP78 functions downstream of CEP350 to control biogenesis of
            primary cilia by negatively regulating CP110 levels
  JOURNAL   Elife 10, e63731 (2021)
   PUBMED   34259627
  REMARK    GeneRIF: CEP78 functions downstream of CEP350 to control biogenesis
            of primary cilia by negatively regulating CP110 levels.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 690)
  AUTHORS   Huang X, Yan Y, Wei R, Liu H, Zhu X, Bi D, Wei Q and Yao X.
  TITLE     Centrosome Protein 78 Is Overexpressed in Muscle-Invasive Bladder
            Cancer and Is Associated with Tumor Molecular Subtypes and Mutation
            Signatures
  JOURNAL   Med Sci Monit 26, e925197 (2020)
   PUBMED   33119552
  REMARK    GeneRIF: Centrosome Protein 78 Is Overexpressed in Muscle-Invasive
            Bladder Cancer and Is Associated with Tumor Molecular Subtypes and
            Mutation Signatures.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 690)
  AUTHORS   Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B,
            Mbefo MK, Bedoni N, Kjellstrom U, El Zaoui I, Di Gioia SA, Balzano
            S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan
            MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman
            R, Arsenijevic Y, Tsilimbaris MK, Andreasson S and Rivolta C.
  TITLE     Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss
            Associated with Primary-Cilia Defects
  JOURNAL   Am J Hum Genet 99 (3), 770-776 (2016)
   PUBMED   27588451
  REMARK    GeneRIF: data strongly suggest that mutations in CEP78 cause a
            previously undescribed clinical entity of a ciliary nature
            characterized by blindness and deafness but clearly distinct from
            Usher syndrome, a condition for which visual impairment is due to
            retinitis pigmentosa
REFERENCE   7  (residues 1 to 690)
  AUTHORS   Brunk K, Zhu M, Barenz F, Kratz AS, Haselmann-Weiss U, Antony C and
            Hoffmann I.
  TITLE     Cep78 is a new centriolar protein involved in Plk4-induced
            centriole overduplication
  JOURNAL   J Cell Sci 129 (14), 2713-2718 (2016)
   PUBMED   27246242
  REMARK    GeneRIF: the interaction between Cep78 and the N-terminal catalytic
            domain of Plk4 is a new and important element in the centrosome
            overduplication process.
REFERENCE   8  (residues 1 to 690)
  AUTHORS   Zhang M, Duan T, Wang L, Tang J, Luo R, Zhang R and Kang T.
  TITLE     Low expression of centrosomal protein 78 (CEP78) is associated with
            poor prognosis of colorectal cancer patients
  JOURNAL   Chin J Cancer 35 (1), 62 (2016)
   PUBMED   27357513
  REMARK    GeneRIF: CEP78 functions as a tumor suppressor in colorectal cancer
            and low CEP78 expression leads to shorter survival in colorectal
            cancer patients.
            Publication Status: Online-Only
REFERENCE   9  (residues 1 to 690)
  AUTHORS   Jakobsen L, Vanselow K, Skogs M, Toyoda Y, Lundberg E, Poser I,
            Falkenby LG, Bennetzen M, Westendorf J, Nigg EA, Uhlen M, Hyman AA
            and Andersen JS.
  TITLE     Novel asymmetrically localizing components of human centrosomes
            identified by complementary proteomics methods
  JOURNAL   EMBO J 30 (8), 1520-1535 (2011)
   PUBMED   21399614
REFERENCE   10 (residues 1 to 690)
  AUTHORS   Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA and Mann
            M.
  TITLE     Proteomic characterization of the human centrosome by protein
            correlation profiling
  JOURNAL   Nature 426 (6966), 570-574 (2003)
   PUBMED   14654843
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL353705.23 and CB241629.1.
            
            Summary: This gene encodes a centrosomal protein that is both
            required for the regulation of centrosome-related events during the
            cell cycle, and required for ciliogenesis. The encoded protein has
            an N-terminal leucine-rich repeat (LRR) domain with six consecutive
            LRR repeats, and a C-terminal coiled-coil domain. It interacts with
            the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and
            colocalizes with PLK4 to the distal end of the centriole. Naturally
            occurring mutations in this gene cause defects in primary cilia
            that result in retinal degeneration and sensorineural hearing loss
            which are associated with cone-rod degeneration disease as well as
            Usher syndrome. Low expression of this gene is associated with poor
            prognosis of colorectal cancer patients. [provided by RefSeq, Mar
            2017].
            
            Transcript Variant: This variant (8) uses an alternate exon
            structure in the 3' coding region, and differs in the 3' UTR,
            compared to variant 1. The encoded isoform (h) is shorter and has a
            distinct C-terminus, compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.9741.1,
                                           SRR1660807.171719.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..690
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.2"
     Protein         1..690
                     /product="centrosomal protein of 78 kDa isoform h"
                     /note="centrosomal protein of 78 kDa; centrosomal protein
                     78kDa"
                     /calculated_mol_wt=76365
     Region          <108..294
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Site            325
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JTW2.1)"
     Site            327
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JTW2.1)"
     Region          433..452
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTW2.1)"
     Region          564..590
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTW2.1)"
     Region          615..690
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTW2.1)"
     CDS             1..690
                     /gene="CEP78"
                     /gene_synonym="C9orf81; CRDHL; IP63"
                     /coded_by="NM_001349840.2:277..2349"
                     /note="isoform h is encoded by transcript variant 8"
                     /db_xref="GeneID:84131"
                     /db_xref="HGNC:HGNC:25740"
                     /db_xref="MIM:617110"
ORIGIN      
        1 midsvklrrd saadffshye ylcalqnsvp lpavraclre gvldfnadrl rgvdwaplls
       61 tlkinkdlpl vsiksffqpw lgdtgsdmnk fcrsrvpair ykdvtfqlck alkgclsiss
      121 vlknlelngl ilrerdltil akglnksasl vhlslancpi gdggleiicq gikssitlkt
      181 vnftgcnltw qgadhmakil kyqtmrrhee twaeslryrr pdldcmaglr ritlncntli
      241 gdlgacafad slsedlwlra ldlqqcgltn egakalleal etnttlvvld irknplidhs
      301 mmkavikkvl qngrsaksey qwitspsvke psktakqkrr tiilgsghkg katirivgla
      361 tkkpvssgrk hslgkeyyap aplppgvsgf lpwrtaerak rhrgfplikt rdicnqlqqp
      421 gfpvtvtves pssseveevd dssesvhevp ektsieqeal qekleeclkq lkeervirlk
      481 vdkrvseleh enaqlrninf slsealhaqs ltnmilddeg vlgsiensfq kfhafldllk
      541 daglgqlatm agidqsdfql lghpqmtstv snppkeekka ledekpepkq nalgqmqniq
      601 fqkitgdari plpldsfpvp vstpeglgts snnlgvpate qrqesfegfi armcspspda
      661 tsgtgsqrke eelsrnsrss sekktktesh
//
LOCUS       NP_001371527             790 aa            linear   PRI 28-DEC-2022
DEFINITION  pleckstrin homology domain-containing family G member 6 isoform a
            [Homo sapiens].
ACCESSION   NP_001371527 XP_005253761
VERSION     NP_001371527.1
DBSOURCE    REFSEQ: accession NM_001384598.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 790)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 790)
  AUTHORS   Ke J, Tian J, Mei S, Ying P, Yang N, Wang X, Zou D, Peng X, Yang Y,
            Zhu Y, Gong Y, Wang Z, Gong J, Zhong R, Chang J and Miao X.
  TITLE     Genetic Predisposition to Colon and Rectal Adenocarcinoma Is
            Mediated by a Super-enhancer Polymorphism Coactivating CD9 and
            PLEKHG6
  JOURNAL   Cancer Epidemiol Biomarkers Prev 29 (4), 850-859 (2020)
   PUBMED   31988071
  REMARK    GeneRIF: Genetic Predisposition to Colon and Rectal Adenocarcinoma
            Is Mediated by a Super-enhancer Polymorphism Coactivating CD9 and
            PLEKHG6.
REFERENCE   3  (residues 1 to 790)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 790)
  AUTHORS   O'Neill AC, Kyrousi C, Klaus J, Leventer RJ, Kirk EP, Fry A, Pilz
            DT, Morgan T, Jenkins ZA, Drukker M, Berkovic SF, Scheffer IE,
            Guerrini R, Markie DM, Gotz M, Cappello S and Robertson SP.
  TITLE     A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and
            Neuronal Migration
  JOURNAL   Cell Rep 25 (10), 2729-2741 (2018)
   PUBMED   30517861
  REMARK    GeneRIF: PLEKHG6 isoform is an example of a primate-specific
            genomic element supporting brain development.
REFERENCE   5  (residues 1 to 790)
  AUTHORS   Jiao M, Wu D and Wei Q.
  TITLE     Myosin II-interacting guanine nucleotide exchange factor promotes
            bleb retraction via stimulating cortex reassembly at the bleb
            membrane
  JOURNAL   Mol Biol Cell 29 (5), 643-656 (2018)
   PUBMED   29321250
  REMARK    GeneRIF: Ezrin interacts with MYOGEF and recruits it to retracting
            blebs, where MYOGEF activates RhoA and promotes the reassembly of
            the cortical actomyosin network at the bleb membrane, thus
            contributing to the regulation of bleb retraction.
REFERENCE   6  (residues 1 to 790)
  AUTHORS   Wu D, Asiedu M and Wei Q.
  TITLE     Myosin-interacting guanine exchange factor (MyoGEF) regulates the
            invasion activity of MDA-MB-231 breast cancer cells through
            activation of RhoA and RhoC
  JOURNAL   Oncogene 28 (22), 2219-2230 (2009)
   PUBMED   19421144
  REMARK    GeneRIF: MyoGEF cooperates with nonmuscle myosin IIA to regulate
            the polarity and invasion activity of breast cancer cells through
            activation of RhoA and RhoC.
REFERENCE   7  (residues 1 to 790)
  AUTHORS   Asiedu M, Wu D, Matsumura F and Wei Q.
  TITLE     Centrosome/spindle pole-associated protein regulates cytokinesis
            via promoting the recruitment of MyoGEF to the central spindle
  JOURNAL   Mol Biol Cell 20 (5), 1428-1440 (2009)
   PUBMED   19129481
REFERENCE   8  (residues 1 to 790)
  AUTHORS   Asiedu M, Wu D, Matsumura F and Wei Q.
  TITLE     Phosphorylation of MyoGEF on Thr-574 by Plk1 promotes MyoGEF
            localization to the central spindle
  JOURNAL   J Biol Chem 283 (42), 28392-28400 (2008)
   PUBMED   18694934
  REMARK    GeneRIF: Plk1 can regulate MyoGEF activity and localization,
            contributing to the regulation of cytokinesis
REFERENCE   9  (residues 1 to 790)
  AUTHORS   D'Angelo R, Aresta S, Blangy A, Del Maestro L, Louvard D and Arpin
            M.
  TITLE     Interaction of ezrin with the novel guanine nucleotide exchange
            factor PLEKHG6 promotes RhoG-dependent apical cytoskeleton
            rearrangements in epithelial cells
  JOURNAL   Mol Biol Cell 18 (12), 4780-4793 (2007)
   PUBMED   17881735
  REMARK    GeneRIF: ezrin allows the local activation of RhoG at the apical
            pole of epithelial cells by recruiting upstream and downstream
            regulators of RhoG and that both PLEKHG6 and ezrin are required for
            efficient macropinocytosis
REFERENCE   10 (residues 1 to 790)
  AUTHORS   Wu D, Asiedu M, Adelstein RS and Wei Q.
  TITLE     A novel guanine nucleotide exchange factor MyoGEF is required for
            cytokinesis
  JOURNAL   Cell Cycle 5 (11), 1234-1239 (2006)
   PUBMED   16721066
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006057.5.
            On Jun 22, 2020 this sequence version replaced XP_005253761.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3186730.1,
                                           SRR11853565.6208.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000684764.1/ ENSP00000506982.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..790
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     Protein         1..790
                     /product="pleckstrin homology domain-containing family G
                     member 6 isoform a"
                     /note="myosin interacting guanine nucleotide exchange
                     factor; pleckstrin homology domain-containing family G
                     member 6; PH domain-containing family G member 6; myosin
                     II interacting GEF; pleckstrin homology domain containing,
                     family G (with RhoGef domain) member 6"
                     /calculated_mol_wt=88829
     Region          63..91
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3KR16.3)"
     Region          165..351
                     /region_name="RhoGEF"
                     /note="RhoGEF domain; pfam00621"
                     /db_xref="CDD:425783"
     Site            order(168,172,275,303..304,307..308,310..311,314..315,
                     318..319,322,347,351)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          408..506
                     /region_name="PH_PLEKHG5_G6"
                     /note="Pleckstrin homology domain-containing family G
                     member 5 and 6 pleckstrin homology (PH) domain; cd13244"
                     /db_xref="CDD:270064"
     Region          529..677
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3KR16.3)"
     Region          690..730
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3KR16.3)"
     Region          748..790
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3KR16.3)"
     CDS             1..790
                     /gene="PLEKHG6"
                     /gene_synonym="MyoGEF"
                     /coded_by="NM_001384598.1:236..2608"
                     /note="isoform a is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS8541.1"
                     /db_xref="GeneID:55200"
                     /db_xref="HGNC:HGNC:25562"
                     /db_xref="MIM:611743"
ORIGIN      
        1 mkafgppheg plqglvasri etyggrhras aqstagrlyp rgypvldpsr rrlqqyvpfa
       61 rgsgqargls pmrlrdpepe krhgghvgag llhspklkel tkahelevrl htfsmfgmpr
      121 lppedrrhwe igeggdsglt iekswrelvp ghkemsqelc hqqealwell tteliyvrkl
      181 kimtdllaag llnlqrvgll mevsaetlfg nvpslirthr sfwdevlgpt leetrasgqp
      241 ldpiglqsgf ltfgqrfhpy vqyclrvkqt mayareqqet nplfhafvqw cekhkrsgrq
      301 mlcdllikph qritkyplll havlkrspea raqealnami eavesflrhi ngqvrqgeeq
      361 eslaaaaqri gpyevlepps deveknlrpf stldltspml gvasehtrql llegpvrvke
      421 gregkldvyl flfsdvllvt kpqrkadkak virpplmlek lvcqplrdpn sfllihltef
      481 qcvssallvh cpsptdraqw lektqqaqaa lqklkaeeyv qqkrelltly rdqdrespst
      541 rpstpslegs qssaegrtpe fstiiphlvv tedtdedapl vpddtsdsgy gtlipgtptg
      601 srsplsrlrq ralrrdprlt fstlelrdip lrphppdpqa pqrrsapelp egilkggslp
      661 qedpptwsee edgasergnv vvetlhrarl rgqlpsspth adsagespwe ssgeeeeegp
      721 lflkaghtsl rpmraedmlr eireelasqr iegaeeprds rprkltraql qrmrgphiiq
      781 ldtplsasev
//
LOCUS       NP_001243328             279 aa            linear   PRI 28-DEC-2022
DEFINITION  elongation of very long chain fatty acids protein 1 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001243328
VERSION     NP_001243328.1
DBSOURCE    REFSEQ: accession NM_001256399.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 279)
  AUTHORS   Mueller N, Sassa T, Morales-Gonzalez S, Schneider J, Salchow DJ,
            Seelow D, Knierim E, Stenzel W, Kihara A and Schuelke M.
  TITLE     De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans,
            hypomyelination, spastic paraplegia, high frequency deafness and
            optic atrophy
  JOURNAL   J Med Genet 56 (3), 164-175 (2019)
   PUBMED   30487246
  REMARK    GeneRIF: A dominant ELOVL1 mutation causes a neuro-ichthyotic
            disorder possibly amenable to treatment with PPAR-modulating drugs.
REFERENCE   2  (residues 1 to 279)
  AUTHORS   Kutkowska-Kazmierczak A, Rydzanicz M, Chlebowski A,
            Klosowska-Kosicka K, Mika A, Gruchota J, Jurkiewicz E, Kowalewski
            C, Pollak A, Stradomska TJ, Kmiec T, Jakubowski R, Gasperowicz P,
            Walczak A, Sladowski D, Jankowska-Steifer E, Korniszewski L,
            Kosinska J, Obersztyn E, Nowak W, Sledzinski T, Dziembowski A and
            Ploski R.
  TITLE     Dominant ELOVL1 mutation causes neurological disorder with
            ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic
            features
  JOURNAL   J Med Genet 55 (6), 408-414 (2018)
   PUBMED   29496980
  REMARK    GeneRIF: he ELOVL1 p.Ser165Phe mutation is a likely cause of
            ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI)
            and dysmorphic features (IKSHD).
REFERENCE   3  (residues 1 to 279)
  AUTHORS   Schackmann MJ, Ofman R, Dijkstra IM, Wanders RJ and Kemp S.
  TITLE     Enzymatic characterization of ELOVL1, a key enzyme in very
            long-chain fatty acid synthesis
  JOURNAL   Biochim Biophys Acta 1851 (2), 231-237 (2015)
   PUBMED   25499606
  REMARK    GeneRIF: ELOV1 promotes very long-chain fatty acid accumulation
            X-linked adrenoleukodystrophy and is inhibited by CoA esters of
            bezafibrate and gemfibrozil.
REFERENCE   4  (residues 1 to 279)
  AUTHORS   Sassa T, Wakashima T, Ohno Y and Kihara A.
  TITLE     Lorenzo's oil inhibits ELOVL1 and lowers the level of sphingomyelin
            with a saturated very long-chain fatty acid
  JOURNAL   J Lipid Res 55 (3), 524-530 (2014)
   PUBMED   24489110
  REMARK    GeneRIF: Results suggest that inhibition of atty acid elongase 1
            (ELOVL1) may be an underlying mechanism by which Lorenzo's oil
            exerts its action.
REFERENCE   5  (residues 1 to 279)
  AUTHORS   Ohno Y, Suto S, Yamanaka M, Mizutani Y, Mitsutake S, Igarashi Y,
            Sassa T and Kihara A.
  TITLE     ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid
            synthesis
  JOURNAL   Proc Natl Acad Sci U S A 107 (43), 18439-18444 (2010)
   PUBMED   20937905
  REMARK    GeneRIF: ELOVL1 activity is regulated with the ceramide synthase
            CERS2, an enzyme essential for C24 sphingolipid synthesis.
REFERENCE   6  (residues 1 to 279)
  AUTHORS   Ofman R, Dijkstra IM, van Roermund CW, Burger N, Turkenburg M, van
            Cruchten A, van Engen CE, Wanders RJ and Kemp S.
  TITLE     The role of ELOVL1 in very long-chain fatty acid homeostasis and
            X-linked adrenoleukodystrophy
  JOURNAL   EMBO Mol Med 2 (3), 90-97 (2010)
   PUBMED   20166112
  REMARK    GeneRIF: The authors identify ELOVL1 (elongation of
            very-long-chain-fatty acids) as the single elongase catalysing the
            synthesis of both saturated VLCFA (C26:0) and mono-unsaturated
            VLCFA (C26:1).
REFERENCE   7  (residues 1 to 279)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   8  (residues 1 to 279)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (residues 1 to 279)
  AUTHORS   Leonard AE, Bobik EG, Dorado J, Kroeger PE, Chuang LT, Thurmond JM,
            Parker-Barnes JM, Das T, Huang YS and Mukerji P.
  TITLE     Cloning of a human cDNA encoding a novel enzyme involved in the
            elongation of long-chain polyunsaturated fatty acids
  JOURNAL   Biochem J 350 Pt 3 (Pt 3), 765-770 (2000)
   PUBMED   10970790
REFERENCE   10 (residues 1 to 279)
  AUTHORS   Lehner R and Kuksis A.
  TITLE     Biosynthesis of triacylglycerols
  JOURNAL   Prog Lipid Res 35 (2), 169-201 (1996)
   PUBMED   8944226
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP208926.1, BU857779.1, BC000618.2 and AA635780.1.
            
            Transcript Variant: This variant (2) uses a different 5' UTR,
            compared to variant 1. Variants 1 and 2 encode the same protein
            (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.613304.1,
                                           SRR11853566.860.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..279
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..279
                     /product="elongation of very long chain fatty acids
                     protein 1 isoform 1"
                     /EC_number="2.3.1.199"
                     /note="elongation of very long chain fatty acids
                     (FEN1/Elo2, SUR4/Elo3, yeast)-like 1; elongation of very
                     long chain fatty acids protein 1; 3-keto acyl-CoA synthase
                     ELOVL1; ELOVL FA elongase 1; very long chain 3-oxoacyl-CoA
                     synthase 1; very long chain 3-ketoacyl-CoA synthase 1"
                     /calculated_mol_wt=32532
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (Q9BW60.1)"
     Site            23..43
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BW60.1)"
     Region          24..260
                     /region_name="ELO"
                     /note="GNS1/SUR4 family; pfam01151"
                     /db_xref="CDD:426083"
     Site            61..81
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BW60.1)"
     Site            110..130
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BW60.1)"
     Site            137..154
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BW60.1)"
     Site            176..196
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BW60.1)"
     Site            201..221
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BW60.1)"
     Site            231..251
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BW60.1)"
     Region          275..279
                     /region_name="Di-lysine motif.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03201"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BW60.1)"
     CDS             1..279
                     /gene="ELOVL1"
                     /gene_synonym="CGI-88; IKSHD; Ssc1"
                     /coded_by="NM_001256399.2:244..1083"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS485.1"
                     /db_xref="GeneID:64834"
                     /db_xref="HGNC:HGNC:14418"
                     /db_xref="MIM:611813"
ORIGIN      
        1 meavvnlyqe vmkhadpriq gyplmgspll mtsilltyvy fvlslgprim anrkpfqlrg
       61 fmivynfslv alslyivyef lmsgwlstyt wrcdpvdysn spealrmvrv awlflfskfi
      121 elmdtvifil rkkdgqvtfl hvfhhsvlpw swwwgvkiap ggmgsfhami nssvhvimyl
      181 yyglsafgpv aqpylwwkkh mtaiqliqfv lvslhisqyy fmsscnyqyp viihliwmyg
      241 tiffmlfsnf wyhsytkgkr lpralqqnga pgiakvkan
//
LOCUS       NP_001269811             285 aa            linear   PRI 29-DEC-2022
DEFINITION  regulating synaptic membrane exocytosis protein 2 isoform d [Homo
            sapiens].
ACCESSION   NP_001269811 XP_005251167
VERSION     NP_001269811.1
DBSOURCE    REFSEQ: accession NM_001282882.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 285)
  AUTHORS   Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van
            Dorpe J, Duenas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N,
            Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Beziere A,
            Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E and
            Perrault I.
  TITLE     Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod
            Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
  JOURNAL   Am J Hum Genet 106 (6), 859-871 (2020)
   PUBMED   32470375
  REMARK    GeneRIF: Loss of Function of RIMS2 Causes a Syndromic Congenital
            Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic
            Involvement.
            Erratum:[Am J Hum Genet. 2020 Sep 3;107(3):580. PMID: 32888510]
REFERENCE   2  (residues 1 to 285)
  AUTHORS   Hirano M, Takada Y, Wong CF, Yamaguchi K, Kotani H, Kurokawa T,
            Mori MX, Snutch TP, Ronjat M, De Waard M and Mori Y.
  TITLE     C-terminal splice variants of P/Q-type Ca2+ channel CaV2.1 alpha1
            subunits are differentially regulated by Rab3-interacting molecule
            proteins
  JOURNAL   J Biol Chem 292 (22), 9365-9381 (2017)
   PUBMED   28377503
  REMARK    GeneRIF: Electrophysiological characterization of VDCC currents
            revealed that the suppressive effect of RIM2alpha on
            voltage-dependent inactivation (VDI) was stronger than that of
            RIM1alpha for the CaV2.1 variant containing the region encoded by
            exons 44 and 47.
REFERENCE   3  (residues 1 to 285)
  AUTHORS   Gelernter J, Sherva R, Koesterer R, Almasy L, Zhao H, Kranzler HR
            and Farrer L.
  TITLE     Genome-wide association study of cocaine dependence and related
            traits: FAM53B identified as a risk gene
  JOURNAL   Mol Psychiatry 19 (6), 717-723 (2014)
   PUBMED   23958962
REFERENCE   4  (residues 1 to 285)
  AUTHORS   Yoo JC, Lim Ty, Park JS, Hah YS, Park N, Hong SG, Park JY and Yoon
            TJ.
  TITLE     SYT14L, especially its C2 domain, is involved in regulating
            melanocyte differentiation
  JOURNAL   J Dermatol Sci 72 (3), 246-251 (2013)
   PUBMED   23999003
REFERENCE   5  (residues 1 to 285)
  AUTHORS   Kim KT, Lee JS, Lee BW, Seok H, Jeon HS, Kim JH and Chung JH.
  TITLE     Association between regulating synaptic membrane exocytosis 2 gene
            polymorphisms and degenerative lumbar scoliosis
  JOURNAL   Biomed Rep 1 (4), 619-623 (2013)
   PUBMED   24648997
REFERENCE   6  (residues 1 to 285)
  AUTHORS   Sun L, Bittner MA and Holz RW.
  TITLE     Rim, a component of the presynaptic active zone and modulator of
            exocytosis, binds 14-3-3 through its N terminus
  JOURNAL   J Biol Chem 278 (40), 38301-38309 (2003)
   PUBMED   12871946
REFERENCE   7  (residues 1 to 285)
  AUTHORS   Fukuda M.
  TITLE     Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and
            Noc2. Identification of a critical determinant of Rab3A/Rab27A
            recognition by Rim2
  JOURNAL   J Biol Chem 278 (17), 15373-15380 (2003)
   PUBMED   12578829
REFERENCE   8  (residues 1 to 285)
  AUTHORS   Wang Y and Sudhof TC.
  TITLE     Genomic definition of RIM proteins: evolutionary amplification of a
            family of synaptic regulatory proteins
  JOURNAL   Genomics 81 (2), 126-137 (2003)
   PUBMED   12620390
REFERENCE   9  (residues 1 to 285)
  AUTHORS   Kashima Y, Miki T, Shibasaki T, Ozaki N, Miyazaki M, Yano H and
            Seino S.
  TITLE     Critical role of cAMP-GEFII--Rim2 complex in incretin-potentiated
            insulin secretion
  JOURNAL   J Biol Chem 276 (49), 46046-46053 (2001)
   PUBMED   11598134
REFERENCE   10 (residues 1 to 285)
  AUTHORS   Fenster SD, Chung WJ, Zhai R, Cases-Langhoff C, Voss B, Garner AM,
            Kaempf U, Kindler S, Gundelfinger ED and Garner CC.
  TITLE     Piccolo, a presynaptic zinc finger protein structurally related to
            bassoon
  JOURNAL   Neuron 25 (1), 203-214 (2000)
   PUBMED   10707984
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002849.2, BP360433.1 and
            CN361794.1.
            On Sep 20, 2013 this sequence version replaced XP_005251167.1.
            
            Summary: The protein encoded by this gene is a presynaptic protein
            that interacts with RAB3, a protein important for normal
            neurotransmitter release. The encoded protein can also bind several
            other synaptic proteins, including UNC-13 homolog B,
            ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1.
            This protein is involved in synaptic membrane exocytosis.
            Polymorphisms in this gene have been associated with degenerative
            lumbar scoliosis. [provided by RefSeq, Feb 2017].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.125041.1,
                                           SRR14372079.2128074.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..285
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.3"
     Protein         1..285
                     /product="regulating synaptic membrane exocytosis protein
                     2 isoform d"
                     /note="RAB3 interacting protein 3; regulating synaptic
                     membrane exocytosis protein 2; nuclear protein; non-small
                     cell lung cancer RimL3a protein; non-small cell lung
                     cancer RimL3c protein; rab3-interacting molecule 2;
                     rab-3-interacting protein 3; rab-3-interacting molecule 2;
                     Rab3-interacting protein"
                     /calculated_mol_wt=30841
     Region          116..261
                     /region_name="C2B_RIM1alpha"
                     /note="C2 domain second repeat contained in
                     Rab3-interacting molecule (RIM) proteins; cd04028"
                     /db_xref="CDD:175994"
     Site            order(173,177..178,180,183,211,213,215,259..260)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:175994"
     CDS             1..285
                     /gene="RIMS2"
                     /gene_synonym="CRSDS; OBOE; RAB3IP3; RIM2"
                     /coded_by="NM_001282882.2:319..1176"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS64949.1"
                     /db_xref="GeneID:9699"
                     /db_xref="HGNC:HGNC:17283"
                     /db_xref="MIM:606630"
ORIGIN      
        1 mgrqglggas aagrsmqrsq srsslsasfe alagyfpcmn sleeeegeag gkklrstvqr
       61 stetglavem rnwmtrqasr estdgsmnsy ssegnlifpg vrlasdsqfs dfldglgpaq
      121 lvgrqtlatp amgdiqvgmm dkkgqlevei irarglvvkp gsktlpapyv kvylldngvc
      181 iakkktkvar ktleplyqql lsfeespqgk vlqiivwgdy grmdhksfmg vaqilldele
      241 lsnmvigwfk lfppsslvdp tlapltrras qsslesstgp sysrs
//
LOCUS       NP_005356                315 aa            linear   PRI 30-DEC-2022
DEFINITION  melanoma-associated antigen 9 [Homo sapiens].
ACCESSION   NP_005356
VERSION     NP_005356.1
DBSOURCE    REFSEQ: accession NM_005365.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 315)
  AUTHORS   Yu L, Shao X, Huo L and Zhang T.
  TITLE     Long Non-Coding RNA (lncRNA) Metastasis-Associated Lung
            Adenocarcinoma Transcript 1 (MALAT1) Promotes Cell Proliferation
            and Migration by Regulating miR-143-3p and MAGE Family Member A9
            (MAGEA9) in Oral Squamous Cell Carcinoma
  JOURNAL   Med Sci Monit 26, e924187 (2020)
   PUBMED   32879299
  REMARK    GeneRIF: Long Non-Coding RNA (lncRNA) Metastasis-Associated Lung
            Adenocarcinoma Transcript 1 (MALAT1) Promotes Cell Proliferation
            and Migration by Regulating miR-143-3p and MAGE Family Member A9
            (MAGEA9) in Oral Squamous Cell Carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 315)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 315)
  AUTHORS   Wei Y, Wang Y, Gong J, Rao L, Wu Z, Nie T, Shi D and Zhang L.
  TITLE     High expression of MAGE-A9 contributes to stemness and malignancy
            of human hepatocellular carcinoma
  JOURNAL   Int J Oncol 52 (1), 219-230 (2018)
   PUBMED   29138811
  REMARK    GeneRIF: MAGE-A9 overexpression promoted cell proliferation, colony
            formation, migration, chemoresistance, and tumorigenicity in the
            context of EpCAM+ HCC cells, whereas MAGE-A9 knockdown
            significantly inhibited anchorage-dependent and spheroid colony
            formation and in vivo tumorigenicity.
REFERENCE   4  (residues 1 to 315)
  AUTHORS   Shen Y, Xu J, Yang X, Liu Y, Ma Y, Yang D, Dong Q and Yang Y.
  TITLE     Evidence for the involvement of the proximal copy of the MAGEA9
            gene in Xq28-linked CNV67 specific to spermatogenic failure
  JOURNAL   Biol Reprod 96 (3), 610-616 (2017)
   PUBMED   28339631
  REMARK    GeneRIF: potential X-linked candidate for the CNV67-related
            spermatogenic failure phenotype
REFERENCE   5  (residues 1 to 315)
  AUTHORS   Liu S, Sang M, Xu Y, Gu L, Liu F and Shan B.
  TITLE     Expression of MAGE-A1, -A9, -A11 in laryngeal squamous cell
            carcinoma and their prognostic significance: a retrospective
            clinical study
  JOURNAL   Acta Otolaryngol 136 (5), 506-513 (2016)
   PUBMED   26766421
  REMARK    GeneRIF: The overall survival of laryngeal squamous cell carcinoma
            patients with positive MAGE-A1, MAGE-A9, or MAGE-A11 expression was
            lower than the patients without MAGE-A1, MAGE-A9, or MAGE-A11
            expression.
REFERENCE   6  (residues 1 to 315)
  AUTHORS   Oehlrich N, Devitt G, Linnebacher M, Schwitalle Y, Grosskinski S,
            Stevanovic S and Zoller M.
  TITLE     Generation of RAGE-1 and MAGE-9 peptide-specific cytotoxic
            T-lymphocyte lines for transfer in patients with renal cell
            carcinoma
  JOURNAL   Int J Cancer 117 (2), 256-264 (2005)
   PUBMED   15900605
  REMARK    GeneRIF: May provide suitable targets for immunotherapy of renal
            cell carcinoma.
REFERENCE   7  (residues 1 to 315)
  AUTHORS   Serrano A, Lethe B, Delroisse JM, Lurquin C, De Plaen E, Brasseur
            F, Rimoldi D and Boon T.
  TITLE     Quantitative evaluation of the expression of MAGE genes in tumors
            by limiting dilution of cDNA libraries
  JOURNAL   Int J Cancer 83 (5), 664-669 (1999)
   PUBMED   10521804
REFERENCE   8  (residues 1 to 315)
  AUTHORS   Timms KM, Bondeson ML, Ansari-Lari MA, Lagerstedt K, Muzny DM,
            Dugan-Rocha SP, Nelson DL, Pettersson U and Gibbs RA.
  TITLE     Molecular and phenotypic variation in patients with severe Hunter
            syndrome
  JOURNAL   Hum Mol Genet 6 (3), 479-486 (1997)
   PUBMED   9147653
REFERENCE   9  (residues 1 to 315)
  AUTHORS   Rogner UC, Wilke K, Steck E, Korn B and Poustka A.
  TITLE     The melanoma antigen gene (MAGE) family is clustered in the
            chromosomal band Xq28
  JOURNAL   Genomics 29 (3), 725-731 (1995)
   PUBMED   8575766
REFERENCE   10 (residues 1 to 315)
  AUTHORS   De Plaen E, Arden K, Traversari C, Gaforio JJ, Szikora JP, De Smet
            C, Brasseur F, van der Bruggen P, Lethe B, Lurquin C et al.
  TITLE     Structure, chromosomal localization, and expression of 12 genes of
            the MAGE family
  JOURNAL   Immunogenetics 40 (5), 360-369 (1994)
   PUBMED   7927540
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC244098.2 and BC002351.2.
            
            Summary: This gene is a member of the MAGEA gene family. The
            members of this family encode proteins with 50 to 80% sequence
            identity to each other. The promoters and first exons of the MAGEA
            genes show considerable variability, suggesting that the existence
            of this gene family enables the same function to be expressed under
            different transcriptional controls. The MAGEA genes are clustered
            at chromosomal location Xq28. They have been implicated in some
            hereditary disorders, such as dyskeratosis congenita. [provided by
            RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC002351.2, SRR5189667.401364.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000243314.5/ ENSP00000243314.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..315
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..315
                     /product="melanoma-associated antigen 9"
                     /note="cancer/testis antigen family 1, member 9; MAGE-9
                     antigen; cancer/testis antigen 1.9; melanoma antigen
                     family A, 9; melanoma antigen family A9"
                     /calculated_mol_wt=34957
     Region          1..67
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P43362.1)"
     Region          5..80
                     /region_name="MAGE_N"
                     /note="Melanoma associated antigen family N terminal;
                     pfam12440"
                     /db_xref="CDD:432554"
     Region          128..279
                     /region_name="MAGE"
                     /note="MAGE family; pfam01454"
                     /db_xref="CDD:426270"
     CDS             1..315
                     /gene="MAGEA9"
                     /gene_synonym="CT1.9; MAGE9"
                     /coded_by="NM_005365.5:288..1235"
                     /db_xref="CCDS:CCDS14691.1"
                     /db_xref="GeneID:4108"
                     /db_xref="HGNC:HGNC:6807"
                     /db_xref="MIM:300342"
ORIGIN      
        1 msleqrsphc kpdedleaqg edlglmgaqe ptgeeeetts ssdskeeevs aagsssppqs
       61 pqggasssis vyytlwsqfd egsssqeeee psssvdpaql efmfqealkl kvaelvhfll
      121 hkyrvkepvt kaemlesvik nykryfpvif gkasefmqvi fgtdvkevdp aghsyilvta
      181 lglscdsmlg dghsmpkaal liivlgvilt kdncapeevi wealsvmgvy vgkehmfyge
      241 prklltqdwv qenyleyrqv pgsdpahyef lwgskahaet syekvinylv mlnarepicy
      301 pslyeevlge eqegv
//
LOCUS       NP_001245332             747 aa            linear   PRI 30-DEC-2022
DEFINITION  electroneutral sodium bicarbonate exchanger 1 isoform e [Homo
            sapiens].
ACCESSION   NP_001245332
VERSION     NP_001245332.1
DBSOURCE    REFSEQ: accession NM_001258403.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 747)
  AUTHORS   Wang W, Tsirulnikov K, Zhekova HR, Kayik G, Khan HM, Azimov R,
            Abuladze N, Kao L, Newman D, Noskov SY, Zhou ZH, Pushkin A and
            Kurtz I.
  TITLE     Cryo-EM structure of the sodium-driven chloride/bicarbonate
            exchanger NDCBE
  JOURNAL   Nat Commun 12 (1), 5690 (2021)
   PUBMED   34584093
  REMARK    GeneRIF: Cryo-EM structure of the sodium-driven
            chloride/bicarbonate exchanger NDCBE.
            Erratum:[Nat Commun. 2021 Oct 13;12(1):6083. PMID: 34645810]
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 747)
  AUTHORS   Sweeney MD, Zhao Z, Montagne A, Nelson AR and Zlokovic BV.
  TITLE     Blood-Brain Barrier: From Physiology to Disease and Back
  JOURNAL   Physiol Rev 99 (1), 21-78 (2019)
   PUBMED   30280653
  REMARK    Review article
REFERENCE   3  (residues 1 to 747)
  AUTHORS   Alvadia CM, Sommer T, Bjerregaard-Andersen K, Damkier HH, Montrasio
            M, Aalkjaer C and Morth JP.
  TITLE     The crystal structure of the regulatory domain of the human
            sodium-driven chloride/bicarbonate exchanger
  JOURNAL   Sci Rep 7 (1), 12131 (2017)
   PUBMED   28935959
  REMARK    GeneRIF: The crystal structure at 2.8 A resolution of the
            regulatory N-terminal domain of human NDCBE represents the first
            crystal structure of an electroneutral sodium-bicarbonate
            cotransporter. The crystal structure forms an equivalent dimeric
            interface as observed for the cytoplasmic domain of Band 3, and
            thus establishes that the consensus motif VTVLP is the key minimal
            dimerization motif.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 747)
  AUTHORS   Sherva R, Tripodis Y, Bennett DA, Chibnik LB, Crane PK, de Jager
            PL, Farrer LA, Saykin AJ, Shulman JM, Naj A and Green RC.
  CONSRTM   GENAROAD Consortium; Alzheimer's Disease Neuroimaging Initiative;
            Alzheimer's Disease Genetics Consortium
  TITLE     Genome-wide association study of the rate of cognitive decline in
            Alzheimer's disease
  JOURNAL   Alzheimers Dement 10 (1), 45-52 (2014)
   PUBMED   23535033
REFERENCE   5  (residues 1 to 747)
  AUTHORS   Parker MD, Bouyer P, Daly CM and Boron WF.
  TITLE     Cloning and characterization of novel human SLC4A8 gene products
            encoding Na+-driven Cl-/HCO3(-) exchanger variants NDCBE-A, -C, and
            -D
  JOURNAL   Physiol Genomics 34 (3), 265-276 (2008)
   PUBMED   18577713
  REMARK    GeneRIF: This study confirmed the presence in human cDNA of mouse
            NDCBE-like transcripts (human NDCBE-A) and three novel transcripts
            NDCBE-C, NDCBE-D, and NDCBE-D'.
REFERENCE   6  (residues 1 to 747)
  AUTHORS   Park M, Ko SB, Choi JY, Muallem G, Thomas PJ, Pushkin A, Lee MS,
            Kim JY, Lee MG, Muallem S and Kurtz I.
  TITLE     The cystic fibrosis transmembrane conductance regulator interacts
            with and regulates the activity of the HCO3- salvage transporter
            human Na+-HCO3- cotransport isoform 3
  JOURNAL   J Biol Chem 277 (52), 50503-50509 (2002)
   PUBMED   12403779
REFERENCE   7  (residues 1 to 747)
  AUTHORS   Gresz V, Kwon TH, Vorum H, Zelles T, Kurtz I, Steward MC, Aalkjaer
            C and Nielsen S.
  TITLE     Immunolocalization of electroneutral Na(+)-HCO cotransporters in
            human and rat salivary glands
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 283 (2), G473-G480 (2002)
   PUBMED   12121896
REFERENCE   8  (residues 1 to 747)
  AUTHORS   Soleimani M.
  TITLE     Na+:HCO3- cotransporters (NBC): expression and regulation in the
            kidney
  JOURNAL   J Nephrol 15 Suppl 5, S32-S40 (2002)
   PUBMED   12027220
  REMARK    Review article
REFERENCE   9  (residues 1 to 747)
  AUTHORS   Grichtchenko II, Choi I, Zhong X, Bray-Ward P, Russell JM and Boron
            WF.
  TITLE     Cloning, characterization, and chromosomal mapping of a human
            electroneutral Na(+)-driven Cl-HCO3 exchanger
  JOURNAL   J Biol Chem 276 (11), 8358-8363 (2001)
   PUBMED   11133997
REFERENCE   10 (residues 1 to 747)
  AUTHORS   Amlal H, Burnham CE and Soleimani M.
  TITLE     Characterization of Na+/HCO-3 cotransporter isoform NBC-3
  JOURNAL   Am J Physiol 276 (6), F903-F913 (1999)
   PUBMED   10362779
  REMARK    Erratum:[Am J Physiol 1999 Sep;277(3 Pt 2):followi]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL831915.1 and AC107031.6.
            
            Summary: The protein encoded by this gene is a membrane protein
            that functions to transport sodium and bicarbonate ions across the
            cell membrane. The encoded protein is important for pH regulation
            in neurons. The activity of this protein can be inhibited by
            4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Apr 2012].
            
            Transcript Variant: This variant (5) differs in the 5' and 3' UTRs
            and coding sequences compared to variant 1. The resulting isoform
            (e) is shorter at the N-terminus and has a shorter and distinct
            C-terminus compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL831915.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..747
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     Protein         1..747
                     /product="electroneutral sodium bicarbonate exchanger 1
                     isoform e"
                     /note="electroneutral sodium bicarbonate exchanger 1;
                     k-NBC3; electroneutral Na(+)-driven Cl-HCO3 exchanger;
                     solute carrier family 4, sodium bicarbonate cotransporter,
                     member 8"
                     /calculated_mol_wt=83838
     Region          64..>671
                     /region_name="Band_3_cyto"
                     /note="Band 3 cytoplasmic domain; cl26877"
                     /db_xref="CDD:452680"
     CDS             1..747
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /coded_by="NM_001258403.2:410..2653"
                     /note="isoform e is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS58232.1"
                     /db_xref="GeneID:9498"
                     /db_xref="HGNC:HGNC:11034"
                     /db_xref="MIM:605024"
ORIGIN      
        1 mplgrqshrh hrthgqkhrr rgrgkgasqg eeglealahd tpsqrvqfil gteedeehvp
       61 helfteldei cmkegedaew ketarwlkfe edvedggerw skpyvatlsl hslfelrscl
      121 ingtvlldmh ansieeisdl ildqqelssd lndsmrvkvr eallkkhhhq nekkrnnlip
      181 ivrsfaevgk kqsdphlmdk hgqtvspqsv pttnlevkng vncehspvdl skvdlhfmkk
      241 iptgaeasnv lvgevdildr pivafvrlsp avllsgltev piptrflfil lgpvgkgqqy
      301 heigrsmati mtdeifhdva ykakerddll agidefldqv tvlppgewdp sirieppknv
      361 psqekrkmpg vpngnvchie qephgghsgp elqrtgrlfg glvldikrka pwywsdyrda
      421 lslqclasfl flycacmspv itfggllgea tegrisaies lfgasmtgia yslfagqalt
      481 ilgstgpvlv fekilfkfck dyalsylslr aciglwtafl civlvatdas slvcyitrft
      541 eeafaslici ifiyeaiekl ihlaetypih mhsqldhlsl yycrctlpen pnnhtlqywk
      601 dhnivtaevh wanltvsecq emhgefmgsa cghhgpytpd vlfwscilff ttfilsstlk
      661 tfktsryfpt rmescsvawl ecggvilahc nlrllpsswd yrhappqpan fcifsrdgvs
      721 pcwpgwsqsl dlviclprpp kmlglqa
//
LOCUS       NP_001273881             229 aa            linear   PRI 30-DEC-2022
DEFINITION  tRNA methyltransferase 10 homolog B isoform d [Homo sapiens].
ACCESSION   NP_001273881 XP_005251433
VERSION     NP_001273881.1
DBSOURCE    REFSEQ: accession NM_001286952.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 229)
  AUTHORS   Qi L, Wang Q, Guan Z, Wu Y, Shen C, Hong S, Cao J, Zhang X, Yan C
            and Yin P.
  TITLE     Cryo-EM structure of the human mitochondrial translocase TIM22
            complex
  JOURNAL   Cell Res 31 (3), 369-372 (2021)
   PUBMED   32901109
REFERENCE   2  (residues 1 to 229)
  AUTHORS   Vilardo E, Amman F, Toth U, Kotter A, Helm M and Rossmanith W.
  TITLE     Functional characterization of the human tRNA methyltransferases
            TRMT10A and TRMT10B
  JOURNAL   Nucleic Acids Res 48 (11), 6157-6169 (2020)
   PUBMED   32392304
  REMARK    GeneRIF: Functional characterization of the human tRNA
            methyltransferases TRMT10A and TRMT10B.
REFERENCE   3  (residues 1 to 229)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 229)
  AUTHORS   Howell NW, Jora M, Jepson BF, Limbach PA and Jackman JE.
  TITLE     Distinct substrate specificities of the human tRNA
            methyltransferases TRMT10A and TRMT10B
  JOURNAL   RNA 25 (10), 1366-1376 (2019)
   PUBMED   31292261
  REMARK    GeneRIF: demonstrate that human TRMT10A (hTRMT10A) and human
            TRMT10B (hTRMT10B) are not biochemically redundant
REFERENCE   5  (residues 1 to 229)
  AUTHORS   Vilardo E, Nachbagauer C, Buzet A, Taschner A, Holzmann J and
            Rossmanith W.
  TITLE     A subcomplex of human mitochondrial RNase P is a bifunctional
            methyltransferase--extensive moonlighting in mitochondrial tRNA
            biogenesis
  JOURNAL   Nucleic Acids Res 40 (22), 11583-11593 (2012)
   PUBMED   23042678
  REMARK    Erratum:[Nucleic Acids Res. 2018 Nov 16;46(20):11126-11127. PMID:
            30295808]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY066525.1, BC057774.1, AK294219.1, AK056017.1, AK092718.1 and
            CA440955.1.
            On Nov 20, 2013 this sequence version replaced XP_005251433.1.
            
            Transcript Variant: This variant (4) lacks two alternate exons that
            result in the loss of an in-frame segment in the 5' coding region,
            and it uses an alternate in-frame splice site in the 3' coding
            region, compared to variant 1. The encoded isoform (d) is shorter
            than isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK294219.1, SRR14372079.3797284.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144335, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..229
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.2"
     Protein         1..229
                     /product="tRNA methyltransferase 10 homolog B isoform d"
                     /EC_number="2.1.1.221"
                     /note="RNA (guanine-9-)-methyltransferase
                     domain-containing protein 3; RNA (guanine-9-)
                     methyltransferase domain containing 3; tRNA
                     methyltransferase 10 homolog B; tRNA
                     (guanine(9)-N(1))-methyltransferase TRMT10B"
                     /calculated_mol_wt=25682
     Region          63..220
                     /region_name="Trm10euk_B"
                     /note="eukaryotic tRNA m1G9 methyltransferase Trm10
                     homolog B; cd18100"
                     /db_xref="CDD:349973"
     Site            order(133..135,152..153,155,157,178..179,181,198..199,201)
                     /site_type="other"
                     /note="SAM binding site [chemical binding]"
                     /db_xref="CDD:349973"
     CDS             1..229
                     /gene="TRMT10B"
                     /gene_synonym="bA3J10.9; RG9MTD3"
                     /coded_by="NM_001286952.2:78..767"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS69600.1"
                     /db_xref="GeneID:158234"
                     /db_xref="HGNC:HGNC:26454"
ORIGIN      
        1 mdwklegstq kvespvlqgq egileetged glpegfqllq idaegecqeg eilatgstaw
       61 cselsrlagq irrlygsnkk adrpfwiclt gfttdsplye ecvrmndgfs syllditeed
      121 cfslfpletl vyltpdseha ledvdlnkvy ilgglvdesi qkkvtfqkar eysvktarlp
      181 iqeymvrnqn gknyhseila inqethnwpe alkkgvssgk gyilrnsve
//
LOCUS       NP_899067                518 aa            linear   PRI 30-DEC-2022
DEFINITION  phosphatase and actin regulator 3 isoform 2 [Homo sapiens].
ACCESSION   NP_899067
VERSION     NP_899067.1
DBSOURCE    REFSEQ: accession NM_183244.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 518)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 518)
  AUTHORS   Bosch LJ, Oort FA, Neerincx M, Khalid-de Bakker CA, Terhaar sive
            Droste JS, Melotte V, Jonkers DM, Masclee AA, Mongera S,
            Grooteclaes M, Louwagie J, van Criekinge W, Coupe VM, Mulder CJ,
            van Engeland M, Carvalho B and Meijer GA.
  TITLE     DNA methylation of phosphatase and actin regulator 3 detects
            colorectal cancer in stool and complements FIT
  JOURNAL   Cancer Prev Res (Phila) 5 (3), 464-472 (2012)
   PUBMED   22135045
  REMARK    GeneRIF: DNA methylation of phosphatase and actin regulator 3 is
            associated with colorectal cancer.
REFERENCE   3  (residues 1 to 518)
  AUTHORS   Farghaian H, Chen Y, Fu AW, Fu AK, Ip JP, Ip NY, Turnley AM and
            Cole AR.
  TITLE     Scapinin-induced inhibition of axon elongation is attenuated by
            phosphorylation and translocation to the cytoplasm
  JOURNAL   J Biol Chem 286 (22), 19724-19734 (2011)
   PUBMED   21487013
  REMARK    GeneRIF: Because its expression is highest in relatively plastic
            regions of the adult brain (cortex, hippocampus), scapinin is a new
            regulator of neurite outgrowth and neuroplasticity in the brain.
REFERENCE   4  (residues 1 to 518)
  AUTHORS   Bankovic J, Stojsic J, Jovanovic D, Andjelkovic T, Milinkovic V,
            Ruzdijic S and Tanic N.
  TITLE     Identification of genes associated with non-small-cell lung cancer
            promotion and progression
  JOURNAL   Lung Cancer 67 (2), 151-159 (2010)
   PUBMED   19473719
  REMARK    GeneRIF: E2F4, PHACTR3, PRAME family member and CDH12 most probably
            play important role in non-small-cell lung cancer geneses
REFERENCE   5  (residues 1 to 518)
  AUTHORS   Sagara J, Arata T and Taniguchi S.
  TITLE     Scapinin, the protein phosphatase 1 binding protein, enhances cell
            spreading and motility by interacting with the actin cytoskeleton
  JOURNAL   PLoS One 4 (1), e4247 (2009)
   PUBMED   19158953
  REMARK    GeneRIF: scapinin enhances cell spreading and motility through
            direct interaction with actin and PP1 plays a regulatory role in
            scapinin-induced morphological changes
REFERENCE   6  (residues 1 to 518)
  AUTHORS   Worch S, Fiedler E, Hansmann I and Schlote D.
  TITLE     Genomic organization and expression pattern of scapinin (PHACTR3)
            in mouse and human
  JOURNAL   Cytogenet Genome Res 115 (1), 23-29 (2006)
   PUBMED   16974080
  REMARK    GeneRIF: a highly conserved complex genomic organization with four
            different leader exons; Alternative splicing of exon 5 was found to
            be limited to human vs. mouse; expression seems to occur
            predominantly in the brain
REFERENCE   7  (residues 1 to 518)
  AUTHORS   Allen PB, Greenfield AT, Svenningsson P, Haspeslagh DC and
            Greengard P.
  TITLE     Phactrs 1-4: A family of protein phosphatase 1 and actin regulatory
            proteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (18), 7187-7192 (2004)
   PUBMED   15107502
REFERENCE   8  (residues 1 to 518)
  AUTHORS   Sagara J, Higuchi T, Hattori Y, Moriya M, Sarvotham H, Shima H,
            Shirato H, Kikuchi K and Taniguchi S.
  TITLE     Scapinin, a putative protein phosphatase-1 regulatory subunit
            associated with the nuclear nonchromatin structure
  JOURNAL   J Biol Chem 278 (46), 45611-45619 (2003)
   PUBMED   12925532
  REMARK    GeneRIF: scapinin is a putative regulatory subunit of PP1 and is
            involved in transformed or immature phenotypes of HL-60 cells
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB098521.1 and BC108303.1.
            
            Summary: This gene encodes a member of the phosphatase and actin
            regulator protein family. The encoded protein is associated with
            the nuclear scaffold in proliferating cells, and binds to actin and
            the catalytic subunit of protein phosphatase-1, suggesting that it
            functions as a regulatory subunit of protein phosphatase-1.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (2) uses an alternate 5'-terminal
            exon and initiates translation at a downstream start codon,
            compared to variant 1. The encoded isoform (2, also known as
            scapinin-L) has a shorter N-terminus, compared to isoform 1.
            Variants 2, 5, and 6 encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB098521.1, SRR14038192.1790625.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..518
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.32-q13.33"
     Protein         1..518
                     /product="phosphatase and actin regulator 3 isoform 2"
                     /note="scaffold-associated PP1-inhibiting protein; protein
                     phosphatase 1, regulatory subunit 123"
                     /calculated_mol_wt=58394
     Region          <353..506
                     /region_name="DUF5401"
                     /note="Family of unknown function (DUF5401); pfam17380"
                     /db_xref="CDD:375164"
     CDS             1..518
                     /gene="PHACTR3"
                     /gene_synonym="C20orf101; H17739; PPP1R123; SCAPIN1;
                     SCAPININ"
                     /coded_by="NM_183244.2:219..1775"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS42895.1"
                     /db_xref="GeneID:116154"
                     /db_xref="HGNC:HGNC:15833"
                     /db_xref="MIM:608725"
ORIGIN      
        1 mdqtpparpe ylvsgirtpp vrrnsklatl grifkpwkwr kkkneklkqt tsalekkmag
       61 rqgreelikk gllemmeqda esktcnpdgg prsvqseppt pksetltsed aqpgsplatg
      121 tdqvsldkpl ssaahlddaa kmpsassgee adagsllptt nelsqalaga dsldspprpl
      181 ersvgqlpsp pllptpppka sskttknvtg qatlfqassm ksadpslrgq lstptgsphl
      241 ttvhrplpps rvieelhral atkhrqdsfq greskgspkk rldvrlsrts svergkeree
      301 awsfdgalen krtaakesee nkenliinse lkddlllyqd eealndsiis gtlprkckke
      361 llavklrnrp skqeledrni fprrtdeerq eirqqiemkl skrlsqrpav eelerrnilk
      421 qrndqteqee rreikqrltr klnqrptvde lrdrkilirf sdyvevakaq dydrradkpw
      481 trlsaadkaa irkelneyks nemevhassk hltrfhrp
//
LOCUS       NP_001365352             376 aa            linear   PRI 31-DEC-2022
DEFINITION  speedy protein E1 isoform 1 [Homo sapiens].
ACCESSION   NP_001365352 XP_005249776
VERSION     NP_001365352.1
DBSOURCE    REFSEQ: accession NM_001378423.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 376)
  AUTHORS   Dinarina A, Perez LH, Davila A, Schwab M, Hunt T and Nebreda AR.
  TITLE     Characterization of a new family of cyclin-dependent kinase
            activators
  JOURNAL   Biochem J 386 (Pt 2), 349-355 (2005)
   PUBMED   15574121
REFERENCE   2  (residues 1 to 376)
  AUTHORS   Merla G, Ucla C, Guipponi M and Reymond A.
  TITLE     Identification of additional transcripts in the Williams-Beuren
            syndrome critical region
  JOURNAL   Hum Genet 110 (5), 429-438 (2002)
   PUBMED   12073013
  REMARK    GeneRIF: This paper mentioned accessions 'AF412025-2035' and
            'WBSCR16-WBSCR23', but AF412027 and WBSCR19 were not discussed in
            this paper, and the WBSCR19 information is not available from this
            paper.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004951.5.
            On Feb 12, 2020 this sequence version replaced XP_005249776.1.
            
            Summary: This gene is located at chromosome 7p13 which is close to
            the Williams Beuren syndrome chromosome region 7q11.23. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000693451.1/ ENSP00000509569.1
            RefSeq Select criteria    :: based on manual assertion, longest
                                         protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..376
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p13"
     Protein         1..376
                     /product="speedy protein E1 isoform 1"
                     /note="Speedy E; Williams Beuren syndrome chromosome
                     region 19 protein; speedy protein E1; putative
                     WBSCR19-like protein 6; williams-Beuren syndrome
                     chromosomal region 19 protein; speedy homolog E1"
                     /calculated_mol_wt=44963
     Region          193..372
                     /region_name="Spy1"
                     /note="Cell cycle regulatory protein; pfam11357"
                     /db_xref="CDD:431838"
     CDS             1..376
                     /gene="SPDYE1"
                     /gene_synonym="Ringo1; SPDYB2L2; SPDYE; WBSCR19"
                     /coded_by="NM_001378423.2:486..1616"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS94090.1"
                     /db_xref="GeneID:285955"
                     /db_xref="HGNC:HGNC:16408"
                     /db_xref="MIM:617623"
ORIGIN      
        1 mdrtetrfrk rgqitgkitt srqphrqneq spqrstsgyp lqevvddevl gpsapgvdps
       61 ppcrslgwkr krewsdesee epekelapep eetwvvetlc glkmklkqqr vspillehhk
      121 dfnsqlapgv dpspphrsfc wkrkmewwdk seeseeeprk vlapepeeiw vaemlcglkm
      181 klkrrrvslv lpehheafnr lledpvikrf lawdkdlrvs dkyllamvia yfsragfpsw
      241 qyqrlhffla lylandmeed dedskqnifh flygknrsri pllrkrrfql yrsmnprark
      301 nrshiplvrk rrfqlrrcmn prarknrsqi vlfqkrrfhf fcsmscrawv speeleeiqa
      361 ydpehwvwar drarls
//
LOCUS       NP_001376602             741 aa            linear   PRI 31-DEC-2022
DEFINITION  neuronal-specific septin-3 isoform I [Homo sapiens].
ACCESSION   NP_001376602
VERSION     NP_001376602.1
DBSOURCE    REFSEQ: accession NM_001389673.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 741)
  AUTHORS   Rosa HVD, Leonardo DA, Brognara G, Brandao-Neto J, D'Muniz Pereira
            H, Araujo APU and Garratt RC.
  TITLE     Molecular Recognition at Septin Interfaces: The Switches Hold the
            Key
  JOURNAL   J Mol Biol 432 (21), 5784-5801 (2020)
   PUBMED   32910969
  REMARK    GeneRIF: Molecular Recognition at Septin Interfaces: The Switches
            Hold the Key.
REFERENCE   2  (residues 1 to 741)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 741)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 741)
  AUTHORS   Turner JA, Bemis JGT, Bagby SM, Capasso A, Yacob BW, Chimed TS, Van
            Gulick R, Lee H, Tobin R, Tentler JJ, Pitts T, McCarter M, Robinson
            WA and Couts KL.
  TITLE     BRAF fusions identified in melanomas have variable treatment
            responses and phenotypes
  JOURNAL   Oncogene 38 (8), 1296-1308 (2019)
   PUBMED   30254212
  REMARK    GeneRIF: argeted RNA sequencing was used to screen 60 melanoma
            patient-derived xenograft (PDX) models for BRAF fusions. We
            identified three unique BRAF fusions, including a novel SEPT3-BRAF
            fusion, occurring in four tumors (4/60, 6.7%), all of which were
            'pan-negative' (lacking other common mutations) (4/18, 22.2%).
REFERENCE   5  (residues 1 to 741)
  AUTHORS   Ribet D, Boscaini S, Cauvin C, Siguier M, Mostowy S, Echard A and
            Cossart P.
  TITLE     SUMOylation of human septins is critical for septin filament
            bundling and cytokinesis
  JOURNAL   J Cell Biol 216 (12), 4041-4052 (2017)
   PUBMED   29051266
  REMARK    GeneRIF: SUMOylation of human septins is critical for septin
            filament bundling and cytokinesis.
REFERENCE   6  (residues 1 to 741)
  AUTHORS   Xue J, Milburn PJ, Hanna BT, Graham ME, Rostas JA and Robinson PJ.
  TITLE     Phosphorylation of septin 3 on Ser-91 by cGMP-dependent protein
            kinase-I in nerve terminals
  JOURNAL   Biochem J 381 (Pt 3), 753-760 (2004)
   PUBMED   15107017
REFERENCE   7  (residues 1 to 741)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   8  (residues 1 to 741)
  AUTHORS   Takehashi M, Alioto T, Stedeford T, Persad AS, Banasik M, Masliah
            E, Tanaka S and Ueda K.
  TITLE     Septin 3 gene polymorphism in Alzheimer's disease
  JOURNAL   Gene Expr 11 (5-6), 263-270 (2004)
   PUBMED   15200238
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 741)
  AUTHORS   Methner A, Leypoldt F, Joost P and Lewerenz J.
  TITLE     Human septin 3 on chromosome 22q13.2 is upregulated by neuronal
            differentiation
  JOURNAL   Biochem Biophys Res Commun 283 (1), 48-56 (2001)
   PUBMED   11322766
REFERENCE   10 (residues 1 to 741)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z99716.4.
            
            Summary: This gene belongs to the septin family of GTPases. Members
            of this family are required for cytokinesis. Expression is
            upregulated by retinoic acid in a human teratocarcinoma cell line.
            The specific function of this gene has not been determined.
            Alternative splicing of this gene results in several transcript
            variants encoding different isoforms. [provided by RefSeq, May
            2018].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2145743
                              [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..741
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     Protein         1..741
                     /product="neuronal-specific septin-3 isoform I"
                     /note="neuronal-specific septin-3"
                     /calculated_mol_wt=79837
     Region          447..724
                     /region_name="CDC_Septin"
                     /note="CDC/Septin GTPase family; cd01850"
                     /db_xref="CDD:206649"
     Site            order(447..451,516,519,598..599,601,656..657)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206649"
     Site            order(479..481,494..499)
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206649"
     Site            481
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206649"
     Site            516..519
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206649"
     Site            518..564
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206649"
     Site            598..601
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206649"
     Site            656..658
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206649"
     CDS             1..741
                     /gene="SEPTIN3"
                     /gene_synonym="bK250D10.3; SEP3; SEPT3"
                     /coded_by="NM_001389673.1:255..2480"
                     /note="isoform I is encoded by transcript variant I"
                     /db_xref="GeneID:55964"
                     /db_xref="HGNC:HGNC:10750"
                     /db_xref="MIM:608314"
ORIGIN      
        1 mdhnfapapp emqshgapgp gtsfshshvl grpirpsrlp gggspltpvl rktihldtfp
       61 qshipqtssr lglgartrsv ppqetgialg aslsplptss lvprklssis ltlhqnsqar
      121 sldrplshwe elptpgkkaa pheggrvssp gsppvtlvpg grvhsegpgn pgltksnrml
      181 atekplvssy lalpfqsrla qsapvlaepg slgqghlvsv tdhmptrasp gkgkprargi
      241 prprgrlqra nttvnltamd trtdaarhla tmatnrpsla inlatpntsq ldtgtefpal
      301 diklgtardl ssvgtvksgk tvnlatagti kpgtamnltt vgttkpgmvm dliasepdkl
      361 gkamatrsta kpdmttegia mdsatsdpvk pdtitatvgt srletamala rvnraklgta
      421 knslaldtsr mgtavgsvvp vtpdpatgkt tlgsvnnlti sdvatcllmp srstdlaldn
      481 tnaamdrate pasldlatey kvieeggvkm kltvidtpgf gdqinnencw epiekyineq
      541 yekflkeevn iarkkripdt rvhcclyfis ptghslrpld lefmkhlskv vniipviaka
      601 dtmtleekse fkqrvrkele vngiefypqk efdedledkt endkirqesm pfavvgsdke
      661 yqvngkrvlg rktpwgiiev enlnhcefal lrdfvirthl qdlkevthni hyetyrakrl
      721 ndngglppvs vdteeshdsn p
//
LOCUS       NP_001338037            1270 aa            linear   PRI 23-JAN-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 19 isoform 15 [Homo sapiens].
ACCESSION   NP_001338037 XP_016861123
VERSION     NP_001338037.1
DBSOURCE    REFSEQ: accession NM_001351108.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1270)
  AUTHORS   Zhang J, van Dinther M, Thorikay M, Gourabi BM, Kruithof BPT and
            Ten Dijke P.
  TITLE     Opposing USP19 splice variants in TGF-beta signaling and
            TGF-beta-induced epithelial-mesenchymal transition of breast cancer
            cells
  JOURNAL   Cell Mol Life Sci 80 (2), 43 (2023)
   PUBMED   36646950
  REMARK    GeneRIF: Opposing USP19 splice variants in TGF-beta signaling and
            TGF-beta-induced epithelial-mesenchymal transition of breast cancer
            cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1270)
  AUTHORS   Chandrasekaran AP, Tyagi A, Poondla N, Sarodaya N, Karapurkar JK,
            Kaushal K, Park CH, Hong SH, Kim KS and Ramakrishna S.
  TITLE     Dual role of deubiquitinating enzyme USP19 regulates mitotic
            progression and tumorigenesis by stabilizing survivin
  JOURNAL   Mol Ther 30 (11), 3414-3429 (2022)
   PUBMED   35918893
  REMARK    GeneRIF: Dual role of deubiquitinating enzyme USP19 regulates
            mitotic progression and tumorigenesis by stabilizing survivin.
REFERENCE   3  (residues 1 to 1270)
  AUTHORS   Sarodaya N, Tyagi A, Kim HJ, Kang JS, Singh V, Hong SH, Kim WJ, Kim
            KS and Ramakrishna S.
  TITLE     Deubiquitinase USP19 extends the residual enzymatic activity of
            phenylalanine hydroxylase variants
  JOURNAL   Sci Rep 12 (1), 14243 (2022)
   PUBMED   35987969
  REMARK    GeneRIF: Deubiquitinase USP19 extends the residual enzymatic
            activity of phenylalanine hydroxylase variants.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1270)
  AUTHORS   Chai P, Cheng Y, Hou C, Yin L, Zhang D, Hu Y, Chen Q, Zheng P, Teng
            J and Chen J.
  TITLE     USP19 promotes hypoxia-induced mitochondrial division via FUNDC1 at
            ER-mitochondria contact sites
  JOURNAL   J Cell Biol 220 (7) (2021)
   PUBMED   33978709
  REMARK    GeneRIF: USP19 promotes hypoxia-induced mitochondrial division via
            FUNDC1 at ER-mitochondria contact sites.
REFERENCE   5  (residues 1 to 1270)
  AUTHORS   Hu W, Su Y, Fei X, Wang X, Zhang G, Su C, Du T, Yang T, Wang G,
            Tang Z and Zhang J.
  TITLE     Ubiquitin specific peptidase 19 is a prognostic biomarker and
            affect the proliferation and migration of clear cell renal cell
            carcinoma
  JOURNAL   Oncol Rep 43 (6), 1964-1974 (2020)
   PUBMED   32236633
  REMARK    GeneRIF: Ubiquitin specific peptidase 19 is a prognostic biomarker
            and affect the proliferation and migration of clear cell renal cell
            carcinoma.
REFERENCE   6  (residues 1 to 1270)
  AUTHORS   Mei Y, Hahn AA, Hu S and Yang X.
  TITLE     The USP19 deubiquitinase regulates the stability of c-IAP1 and
            c-IAP2
  JOURNAL   J Biol Chem 286 (41), 35380-35387 (2011)
   PUBMED   21849505
  REMARK    GeneRIF: The USP19 deubiquitinase regulates the stability of c-IAP1
            and c-IAP2.
REFERENCE   7  (residues 1 to 1270)
  AUTHORS   Lu Y, Bedard N, Chevalier S and Wing SS.
  TITLE     Identification of distinctive patterns of USP19-mediated growth
            regulation in normal and malignant cells
  JOURNAL   PLoS One 6 (1), e15936 (2011)
   PUBMED   21264218
  REMARK    GeneRIF: ability of USP19 to regulate cell proliferation and
            p27(Kip1) levels; complete loss of USP19 function on cell growth
            may arise as a result of oncogenic transformation of cells.
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 1270)
  AUTHORS   Hassink GC, Zhao B, Sompallae R, Altun M, Gastaldello S, Zinin NV,
            Masucci MG and Lindsten K.
  TITLE     The ER-resident ubiquitin-specific protease 19 participates in the
            UPR and rescues ERAD substrates
  JOURNAL   EMBO Rep 10 (7), 755-761 (2009)
   PUBMED   19465887
  REMARK    GeneRIF: USP19 is the first example of a membrane-anchored
            deubiquitinating enzymes involved in the turnover of
            endoplasmic-reticulum-associated degradation substrates.
REFERENCE   9  (residues 1 to 1270)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   10 (residues 1 to 1270)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135506.3.
            On May 4, 2017 this sequence version replaced XP_016861123.1.
            
            Summary: Protein ubiquitination controls many intracellular
            processes, including cell cycle progression, transcriptional
            activation, and signal transduction. This dynamic process,
            involving ubiquitin conjugating enzymes and deubiquitinating
            enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are
            cysteine proteases that specifically cleave ubiquitin from
            ubiquitin-conjugated protein substrates. This protein is a
            ubiquitin protein ligase and plays a role in muscle wasting.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, May
            2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.39511.1,
                                           SRR14038197.770881.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1270
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..1270
                     /product="ubiquitin carboxyl-terminal hydrolase 19 isoform
                     15"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin specific protease 19; deubiquitinating
                     enzyme 19; zinc finger MYND domain-containing protein 9;
                     ubiquitin-specific-processing protease 19; ubiquitin
                     carboxyl-terminal hydrolase 19; ubiquitin thioesterase 19;
                     ubiquitin thiolesterase 19"
                     /calculated_mol_wt=140077
     Region          105..187
                     /region_name="p23_like"
                     /note="Proteins containing this p23_like domain include
                     p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1.
                     Both are co-chaperones for the heat shock protein (Hsp)
                     90. p23 binds Hsp90 and participates in the folding of a
                     number of Hsp90 clients, including...; cd06463"
                     /db_xref="CDD:107220"
     Region          219..240
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94966.2)"
     Site            229
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94966.2)"
     Region          275..371
                     /region_name="p23_CS_SGT1_like"
                     /note="p23_like domain similar to the C-terminal
                     CHORD-SGT1 (CS) domain of Sgt1 (suppressor of G2 allele of
                     Skp1). Sgt1 interacts with multiple protein complexes and
                     has the features of a cochaperone. Human (h) Sgt1
                     interacts with both Hsp70 and Hsp90, and has...; cd06466"
                     /db_xref="CDD:107223"
     Region          362..484
                     /region_name="USP19_linker"
                     /note="Linker region of USP19 deubiquitinase; pfam16602"
                     /db_xref="CDD:435454"
     Region          379..468
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94966.2)"
     Region          <482..1204
                     /region_name="UBP12"
                     /note="Ubiquitin C-terminal hydrolase [Posttranslational
                     modification, protein turnover, chaperones]; COG5560"
                     /db_xref="CDD:227847"
     Region          1207..1228
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94966.2)"
     CDS             1..1270
                     /gene="USP19"
                     /gene_synonym="ZMYND9"
                     /coded_by="NM_001351108.2:205..4017"
                     /note="isoform 15 is encoded by transcript variant 15"
                     /db_xref="CCDS:CCDS93270.1"
                     /db_xref="GeneID:10869"
                     /db_xref="HGNC:HGNC:12617"
                     /db_xref="MIM:614471"
ORIGIN      
        1 msggasatgp rrgppgledt tskkkqkdra nqeskdgdpr ketgsryvaq agleplasgd
       61 psasashaag itgsrhrtrl ffpsssgsas tpqeeqtkee llldwrqsae evivklrvgv
      121 gplqledvda aftdtdcvvr faggqqwggv fyaeikssca kvqtrkgsll hltlpkkvpm
      181 ltwpsllvea deqlcippln sqtcllgsee nlaplageka vppgndpvsp amvrsrnpgk
      241 ddcakeemav aadaatlvdg kepesmvnla fvkndsyekg pdsvvvhvyv keicrdtsrv
      301 lfreqdftli fqtrdgnflr lhpgcgphtt frwqvklrnl iepeqctfcf tasridiclr
      361 krqsqrwggl eapaargavg gakvavptgp tpldstppgg aphpltgqee aravekdksk
      421 arsedtglds vatrtpmehv tpkpethlas pkptcmvppm phspvsgdsv eeeeeeekkv
      481 clpgftglvn lgntcfmnsv iqslsntrel rdffhdrsfe aeinynnplg tggrlaigfa
      541 vllralwkgt hhafqpsklk aivaskasqf tgyaqhdaqe fmaflldglh edlnriqnkp
      601 ytetvdsdgr pdevvaeeaw qrhkmrndsf ivdlfqgqyk sklvcpvcak vsitfdpfly
      661 lpvplpqkqk vlpvfyfare phskpikflv svskenstas evldslsqsv hvkpenlrla
      721 eviknrfhrv flpshsldtv spsdtllcfe llsselaker vvvlevqqrp qvpsvpiskc
      781 aacqrkqqse deklkrctrc yrvgycnqlc qkthwpdhkg lcrpenigyp flvsvpasrl
      841 tyarlaqlle gyarysvsvf qppfqpgrma lesqspgctt llstgsleag dserdpiqpp
      901 elqlvtpmae gdtglprvwa apdrgpvpst sgissemlas gpievgslpa gervsrpeaa
      961 vpgyqhpsea mnahtpqffi ykidssnreq rledkgdtpl elgddcslal vwrnnerlqe
     1021 fvlvaskele caedpgsage aaraghftld qclnlftrpe vlapeeawyc pqckqhreas
     1081 kqlllwrlpn vlivqlkrfs frsfiwrdki ndlvefpvrn ldlskfcigq keeqlpsydl
     1141 yavinhyggm igghytacar lpndrssqrs dvgwrlfdds tvttvdesqv vtryayvlfy
     1201 rrrnspverp praghsehhp dlgpaaeaaa sqglgpgqap evaptrtape rfappvdrpa
     1261 ptysnmeevd
//
LOCUS       NP_001333071             172 aa            linear   PRI 07-FEB-2023
DEFINITION  aldo-keto reductase family 1 member B1 isoform 2 [Homo sapiens].
ACCESSION   NP_001333071
VERSION     NP_001333071.1
DBSOURCE    REFSEQ: accession NM_001346142.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 172)
  AUTHORS   Jehanzeb M, Khan NU, Hussain M, Subrina J, Ayub S and Mustafa A.
  TITLE     Association of candidate genes (ALR2, RAGE, and VEGF) polymorphisms
            with diabetic retinopathy in type 2 diabetic patients of Khyber
            Pakhtunkhwa, Pakistan
  JOURNAL   Mol Biol Rep 50 (1), 227-234 (2023)
   PUBMED   36319788
  REMARK    GeneRIF: Association of candidate genes (ALR2, RAGE, and VEGF)
            polymorphisms with diabetic retinopathy in type 2 diabetic patients
            of Khyber Pakhtunkhwa, Pakistan.
REFERENCE   2  (residues 1 to 172)
  AUTHORS   Vyas B, Choudhary S, Verma H, Kumar M and Malik AK.
  TITLE     Identification of missense SNP-mediated mutations in the regulatory
            sites of aldose reductase (ALR2) responsible for treatment failure
            in diabetic complications
  JOURNAL   J Mol Model 28 (9), 260 (2022)
   PUBMED   35984530
  REMARK    GeneRIF: Identification of missense SNP-mediated mutations in the
            regulatory sites of aldose reductase (ALR2) responsible for
            treatment failure in diabetic complications.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 172)
  AUTHORS   Dieter C, Lemos NE, de Faria Correa NR, Pellenz FM, Canani LH,
            Crispim D and Bauer AC.
  TITLE     The A allele of the rs759853 single nucleotide polymorphism in the
            AKR1B1 gene confers risk for diabetic kidney disease in patients
            with type 2 diabetes from a Brazilian population
  JOURNAL   Arch Endocrinol Metab 66 (1), 12-18 (2022)
   PUBMED   35029856
  REMARK    GeneRIF: The A allele of the rs759853 single nucleotide
            polymorphism in the AKR1B1 gene confers risk for diabetic kidney
            disease in patients with type 2 diabetes from a Brazilian
            population.
REFERENCE   4  (residues 1 to 172)
  AUTHORS   Kallinikou D, Tsentidis C, Kekou K, Katsalouli M, Louraki M,
            Kanaka-Gantenbein C, Kanavakis E and Karavanaki K.
  TITLE     Homozygosity of the Z-2 polymorphic variant in the aldose reductase
            gene promoter confers increased risk for neuropathy in children and
            adolescents with Type 1 diabetes
  JOURNAL   Pediatr Diabetes 23 (1), 104-114 (2022)
   PUBMED   34773353
  REMARK    GeneRIF: Homozygosity of the Z-2 polymorphic variant in the aldose
            reductase gene promoter confers increased risk for neuropathy in
            children and adolescents with Type 1 diabetes.
REFERENCE   5  (residues 1 to 172)
  AUTHORS   Sandner A, Ngo K, Sager CP, Scheer F, Daude M, Diederich WE, Heine
            A and Klebe G.
  TITLE     Which Properties Allow Ligands to Open and Bind to the Transient
            Binding Pocket of Human Aldose Reductase?
  JOURNAL   Biomolecules 11 (12), 1837 (2021)
   PUBMED   34944481
  REMARK    GeneRIF: Which Properties Allow Ligands to Open and Bind to the
            Transient Binding Pocket of Human Aldose Reductase?
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 172)
  AUTHORS   Borhani DW, Harter TM and Petrash JM.
  TITLE     The crystal structure of the aldose reductase.NADPH binary complex
  JOURNAL   J Biol Chem 267 (34), 24841-24847 (1992)
   PUBMED   1447221
REFERENCE   7  (residues 1 to 172)
  AUTHORS   Grimshaw CE.
  TITLE     Aldose reductase: model for a new paradigm of enzymic perfection in
            detoxification catalysts
  JOURNAL   Biochemistry 31 (42), 10139-10145 (1992)
   PUBMED   1420136
  REMARK    Review article
REFERENCE   8  (residues 1 to 172)
  AUTHORS   Wilson DK, Bohren KM, Gabbay KH and Quiocho FA.
  TITLE     An unlikely sugar substrate site in the 1.65 A structure of the
            human aldose reductase holoenzyme implicated in diabetic
            complications
  JOURNAL   Science 257 (5066), 81-84 (1992)
   PUBMED   1621098
REFERENCE   9  (residues 1 to 172)
  AUTHORS   Graham A, Brown L, Hedge PJ, Gammack AJ and Markham AF.
  TITLE     Structure of the human aldose reductase gene
  JOURNAL   J Biol Chem 266 (11), 6872-6877 (1991)
   PUBMED   1901857
REFERENCE   10 (residues 1 to 172)
  AUTHORS   Graham A, Heath P, Morten JE and Markham AF.
  TITLE     The human aldose reductase gene maps to chromosome region 7q35
  JOURNAL   Hum Genet 86 (5), 509-514 (1991)
   PUBMED   1901827
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC078847.2 and AA599612.1.
            
            Summary: This gene encodes a member of the aldo/keto reductase
            superfamily, which consists of more than 40 known enzymes and
            proteins. This member catalyzes the reduction of a number of
            aldehydes, including the aldehyde form of glucose, and is thereby
            implicated in the development of diabetic complications by
            catalyzing the reduction of glucose to sorbitol. Multiple
            pseudogenes have been identified for this gene. The nomenclature
            system used by the HUGO Gene Nomenclature Committee to define human
            aldo-keto reductase family members is known to differ from that
            used by the Mouse Genome Informatics database. [provided by RefSeq,
            Feb 2009].
            
            Transcript Variant: This variant (2) uses an alternate 5' most exon
            and lacks the start codon used in variant 1. These differences
            result in the use of a downstream AUG compared to variant 1. The
            encoded isoform (2) has a shorter N-terminus compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.144043.1,
                                           SRR1803611.254592.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145544, SAMEA2162841
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..172
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q33"
     Protein         1..172
                     /product="aldo-keto reductase family 1 member B1 isoform
                     2"
                     /EC_number="1.1.1.21"
                     /EC_number="1.1.1.300"
                     /EC_number="1.1.1.54"
                     /EC_number="1.1.1.372"
                     /note="low Km aldose reductase; Lii5-2 CTCL tumor antigen;
                     aldehyde reductase 1; aldo-keto reductase family 1 member
                     B1"
                     /calculated_mol_wt=19571
     Region          <1..172
                     /region_name="AKR_SF"
                     /note="Aldo-keto reductase (AKR) superfamily; cl00470"
                     /db_xref="CDD:444925"
     CDS             1..172
                     /gene="AKR1B1"
                     /gene_synonym="ADR; ALDR1; ALR2; AR"
                     /coded_by="NM_001346142.1:485..1003"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:231"
                     /db_xref="HGNC:HGNC:381"
                     /db_xref="MIM:103880"
ORIGIN      
        1 meelvdeglv kaigisnfnh lqvemilnkp glkykpavnq iechpyltqe kliqycqskg
       61 ivvtaysplg spdrpwakpe dpslledpri kaiaakhnkt taqvlirfpm qrnlvvipks
      121 vtperiaenf kvfdfelssq dmttllsynr nwrvcallsc tshkdypfhe ef
//
LOCUS       NP_852470                177 aa            linear   PRI 07-FEB-2023
DEFINITION  inosine triphosphate pyrophosphatase isoform b [Homo sapiens].
ACCESSION   NP_852470
VERSION     NP_852470.1
DBSOURCE    REFSEQ: accession NM_181493.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 177)
  AUTHORS   Heidari M, Khalili M, Malek Hosseini SA, Geramizadeh B, Shamsaefar
            AR, Balouchi F and Karimi MH.
  TITLE     Investigation of the Association Between the ITPA Gene 94C>A Gene
            Sequence Variant and Liver Transplant Rejection in Iranian Liver
            Transplant Recipients
  JOURNAL   Exp Clin Transplant 20 (12), 1094-1098 (2022)
   PUBMED   36718008
  REMARK    GeneRIF: Investigation of the Association Between the ITPA Gene
            94C>A Gene Sequence Variant and Liver Transplant Rejection in
            Iranian Liver Transplant Recipients.
REFERENCE   2  (residues 1 to 177)
  AUTHORS   Luo X, Yan S, Jin L, Zhu H, Zhang X and Ge W.
  TITLE     Inosine Triphosphate Pyrophosphatase and NUDT15 are Good Predictors
            of Clinical Outcomes in Thiopurine-Treated Chinese Patients with
            Inflammatory Bowel Disease
  JOURNAL   Ther Drug Monit 44 (3), 391-395 (2022)
   PUBMED   35067667
  REMARK    GeneRIF: Inosine Triphosphate Pyrophosphatase and NUDT15 are Good
            Predictors of Clinical Outcomes in Thiopurine-Treated Chinese
            Patients with Inflammatory Bowel Disease.
REFERENCE   3  (residues 1 to 177)
  AUTHORS   Sharma Y, Saini AG, Kaur R, Bhatia V, Didwal G, Kumar P and Uppala
            R.
  TITLE     Neurodegeneration and Early Infantile Epilepsy Associated with ITPA
            Variants: A Case Series and Review of Literature
  JOURNAL   Neuropediatrics 53 (3), 167-175 (2022)
   PUBMED   35098521
  REMARK    GeneRIF: Neurodegeneration and Early Infantile Epilepsy Associated
            with ITPA Variants: A Case Series and Review of Literature.
            Review article
REFERENCE   4  (residues 1 to 177)
  AUTHORS   Zamzami MA.
  TITLE     Inosine Triphosphate Pyrophosphatase (ITPase): Functions,
            Mutations, Polymorphisms and Its Impact on Cancer Therapies
  JOURNAL   Cells 11 (3), 384 (2022)
   PUBMED   35159194
  REMARK    GeneRIF: Inosine Triphosphate Pyrophosphatase (ITPase): Functions,
            Mutations, Polymorphisms and Its Impact on Cancer Therapies.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 177)
  AUTHORS   Sumi S, Marinaki AM, Arenas M, Fairbanks L, Shobowale-Bakre M, Rees
            DC, Thein SL, Ansari A, Sanderson J, De Abreu RA, Simmonds HA and
            Duley JA.
  TITLE     Genetic basis of inosine triphosphate pyrophosphohydrolase
            deficiency
  JOURNAL   Hum Genet 111 (4-5), 360-367 (2002)
   PUBMED   12384777
REFERENCE   6  (residues 1 to 177)
  AUTHORS   Cao H and Hegele RA.
  TITLE     DNA polymorphisms in ITPA including basis of inosine triphosphatase
            deficiency
  JOURNAL   J Hum Genet 47 (11), 620-622 (2002)
   PUBMED   12436200
  REMARK    GeneRIF: Sequencing of the genomic DNA from a subject with complete
            ITP-ase deficiency revealed homozygosity for missense mutation
            198C>A.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 177)
  AUTHORS   Lin S, McLennan AG, Ying K, Wang Z, Gu S, Jin H, Wu C, Liu W, Yuan
            Y, Tang R, Xie Y and Mao Y.
  TITLE     Cloning, expression, and characterization of a human inosine
            triphosphate pyrophosphatase encoded by the itpa gene
  JOURNAL   J Biol Chem 276 (22), 18695-18701 (2001)
   PUBMED   11278832
REFERENCE   8  (residues 1 to 177)
  AUTHORS   Clawson GA, Song YL, Schwartz AM, Shukla RR, Patel SG, Connor L,
            Blankenship L, Hatem C and Kumar A.
  TITLE     Interaction of human immunodeficiency virus type I Rev protein with
            nuclear scaffold nucleoside triphosphatase activity
  JOURNAL   Cell Growth Differ 2 (11), 575-582 (1991)
   PUBMED   1667585
REFERENCE   9  (residues 1 to 177)
  AUTHORS   Holmes,S.L., Turner,B.M. and Hirschhorn,K.
  TITLE     Human inosine triphosphatase: catalytic properties and population
            studies
  JOURNAL   Clin Chim Acta 97 (2-3), 143-153 (1979)
   PUBMED   487601
REFERENCE   10 (residues 1 to 177)
  AUTHORS   Fraser,J.H., Meyers,H., Henderson,J.F., Brox,L.W. and McCoy,E.E.
  TITLE     Individual variation in inosine triphosphate accumulation in human
            erythrocytes
  JOURNAL   Clin Biochem 8 (6), 353-364 (1975)
   PUBMED   1204209
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM560812.1, EF213026.1 and
            AF026816.2.
            
            Summary: This gene encodes an inosine triphosphate
            pyrophosphohydrolase. The encoded protein hydrolyzes inosine
            triphosphate and deoxyinosine triphosphate to the monophosphate
            nucleotide and diphosphate. This protein, which is a member of the
            HAM1 NTPase protein family, is found in the cytoplasm and acts as a
            homodimer. Defects in the encoded protein can result in inosine
            triphosphate pyrophosphorylase deficiency which causes an
            accumulation of ITP in red blood cells. Alternate splicing results
            in multiple transcript variants. [provided by RefSeq, Jun 2012].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region compared to variant 1,
            resulting in a shorter protein (isoform b) compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BG332818.1, SRR1163655.44225.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..177
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     Protein         1..177
                     /product="inosine triphosphate pyrophosphatase isoform b"
                     /EC_number="3.6.1.9"
                     /note="inosine triphosphate pyrophosphohydrolase; putative
                     oncogene protein HLC14-06-P; epididymis secretory sperm
                     binding protein; nucleoside-triphosphate diphosphatase;
                     non-standard purine NTP pyrophosphatase; non-canonical
                     purine NTP pyrophosphatase; inosine triphosphatase
                     (nucleoside triphosphate pyrophosphatase)"
                     /calculated_mol_wt=19472
     Region          8..171
                     /region_name="HAM1"
                     /note="NTPase/HAM1. This family consists of the HAM1
                     protein and pyrophosphate-releasing xanthosine/ inosine
                     triphosphatase. HAM1 protects the cell against mutagenesis
                     by the base analog 6-N-hydroxylaminopurine (HAP) in E.
                     Coli and S. cerevisiae. A...; cd00515"
                     /db_xref="CDD:238285"
     Site            order(27..29,63..64,67,70,73)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238285"
     CDS             1..177
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /coded_by="NM_181493.4:55..588"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS46576.1"
                     /db_xref="GeneID:3704"
                     /db_xref="HGNC:HGNC:6176"
                     /db_xref="MIM:147520"
ORIGIN      
        1 maaslvvqil gdkfpctlva qkidlpeyqg epdeisiqkc qeavrqvqgp vlvedtclcf
       61 nalgglpgpy ikwfleklkp eglhqllagf edksayalct falstgdpsq pvrlfrgrts
      121 grivaprgcq dfgwdpcfqp dgyeqtyaem pkaeknavsh rfrallelqe yfgslaa
//
LOCUS       NP_065937               1077 aa            linear   PRI 08-FEB-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 28 isoform a [Homo sapiens].
ACCESSION   NP_065937
VERSION     NP_065937.1
DBSOURCE    REFSEQ: accession NM_020886.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1077)
  AUTHORS   Ren Y, Zhu X, Fu K, Zhang H, Zhao W, Lin Y, Fang Q, Wang J, Chen Y
            and Guo D.
  TITLE     Inhibition of deubiquitinase USP28 attenuates cyst growth in
            autosomal dominant polycystic kidney disease
  JOURNAL   Biochem Pharmacol 207, 115355 (2023)
   PUBMED   36442624
  REMARK    GeneRIF: Inhibition of deubiquitinase USP28 attenuates cyst growth
            in autosomal dominant polycystic kidney disease.
REFERENCE   2  (residues 1 to 1077)
  AUTHORS   Prieto-Garcia C, Hartmann O, Reissland M, Braun F, Bozkurt S, Pahor
            N, Fuss C, Schirbel A, Schulein-Volk C, Buchberger A, Calzado
            Canale MA, Rosenfeldt M, Dikic I, Munch C and Diefenbacher ME.
  TITLE     USP28 enables oncogenic transformation of respiratory cells, and
            its inhibition potentiates molecular therapy targeting mutant EGFR,
            BRAF and PI3K
  JOURNAL   Mol Oncol 16 (17), 3082-3106 (2022)
   PUBMED   35364627
  REMARK    GeneRIF: USP28 enables oncogenic transformation of respiratory
            cells, and its inhibition potentiates molecular therapy targeting
            mutant EGFR, BRAF and PI3K.
REFERENCE   3  (residues 1 to 1077)
  AUTHORS   Bernhard SV, Seget-Trzensiok K, Kuffer C, Krastev DB, Stautmeister
            LM, Theis M, Keuper K, Boekenkamp JE, Kschischo M, Buchholz F and
            Storchova Z.
  TITLE     Loss of USP28 and SPINT2 expression promotes cancer cell survival
            after whole genome doubling
  JOURNAL   Cell Oncol (Dordr) 45 (1), 103-119 (2022)
   PUBMED   34962618
  REMARK    GeneRIF: Loss of USP28 and SPINT2 expression promotes cancer cell
            survival after whole genome doubling.
REFERENCE   4  (residues 1 to 1077)
  AUTHORS   Wang J, Dong Y, Ma H, Wu L, Zhen X, Tang L, Jin J, Han S, Zhang P
            and Peng J.
  TITLE     The deubiquitinase USP28 stabilizes the expression of RecQ family
            helicases and maintains the viability of triple negative breast
            cancer cells
  JOURNAL   J Biol Chem 298 (1), 101443 (2022)
   PUBMED   34822842
  REMARK    GeneRIF: The deubiquitinase USP28 stabilizes the expression of RecQ
            family helicases and maintains the viability of triple negative
            breast cancer cells.
REFERENCE   5  (residues 1 to 1077)
  AUTHORS   Chen L, Xu Z, Li Q, Feng Q, Zheng C, Du Y, Yuan R and Peng X.
  TITLE     USP28 facilitates pancreatic cancer progression through activation
            of Wnt/beta-catenin pathway via stabilising FOXM1
  JOURNAL   Cell Death Dis 12 (10), 887 (2021)
   PUBMED   34584067
  REMARK    GeneRIF: USP28 facilitates pancreatic cancer progression through
            activation of Wnt/beta-catenin pathway via stabilising FOXM1.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1077)
  AUTHORS   Popov N, Herold S, Llamazares M, Schulein C and Eilers M.
  TITLE     Fbw7 and Usp28 regulate myc protein stability in response to DNA
            damage
  JOURNAL   Cell Cycle 6 (19), 2327-2331 (2007)
   PUBMED   17873522
  REMARK    GeneRIF: Usp28 dissociates from Fbw7alpha in response to UV
            irradiation, providing a mechanism how Fbw7-mediated degradation of
            Myc is enhanced upon DNA damage.
REFERENCE   7  (residues 1 to 1077)
  AUTHORS   Popov N, Wanzel M, Madiredjo M, Zhang D, Beijersbergen R, Bernards
            R, Moll R, Elledge SJ and Eilers M.
  TITLE     The ubiquitin-specific protease USP28 is required for MYC stability
  JOURNAL   Nat Cell Biol 9 (7), 765-774 (2007)
   PUBMED   17558397
  REMARK    GeneRIF: High expression levels of USP28 are found in colon and
            breast carcinomas, and stabilization of MYC by USP28 is essential
            for tumour-cell proliferation.
REFERENCE   8  (residues 1 to 1077)
  AUTHORS   Zhang D, Zaugg K, Mak TW and Elledge SJ.
  TITLE     A role for the deubiquitinating enzyme USP28 in control of the
            DNA-damage response
  JOURNAL   Cell 126 (3), 529-542 (2006)
   PUBMED   16901786
  REMARK    GeneRIF: Using a human cell line that faithfully recapitulated the
            Chk2-p53-PUMA pathway, we show that USP28 is required to stabilize
            Chk2 and 53BP1 in response to DNA damage.
REFERENCE   9  (residues 1 to 1077)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
REFERENCE   10 (residues 1 to 1077)
  AUTHORS   Valero R, Bayes M, Francisca Sanchez-Font M, Gonzalez-Angulo O,
            Gonzalez-Duarte R and Marfany G.
  TITLE     Characterization of alternatively spliced products and
            tissue-specific isoforms of USP28 and USP25
  JOURNAL   Genome Biol 2 (10), RESEARCH0043 (2001)
   PUBMED   11597335
  REMARK    GeneRIF: molecular cloning of USP28 & characterization of
            alternatively spliced products and tissue-specific isoforms
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001874.4, DB061316.1,
            AF266283.1, AP003170.4, BC035986.1 and BF434481.1.
            
            Summary: The protein encoded by this gene is a deubiquitinase
            involved in the DNA damage pathway and DNA damage-induced
            apoptosis. Overexpression of this gene is seen in several cancers.
            [provided by RefSeq, Oct 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF266283.1, SRR11853561.5842.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1077
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.2"
     Protein         1..1077
                     /product="ubiquitin carboxyl-terminal hydrolase 28 isoform
                     a"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin thioesterase 28; deubiquitinating enzyme
                     28; ubiquitin-specific-processing protease 28; ubiquitin
                     thiolesterase 28"
                     /calculated_mol_wt=122361
     Region          23..64
                     /region_name="UBA_UBP28"
                     /note="UBA domain found in ubiquitin carboxyl-terminal
                     hydrolase 28 (UBP28) and similar proteins; cd14355"
                     /db_xref="CDD:270540"
     Region          60..80
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RU2.1)"
     Site            67
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16901786; propagated from
                     UniProtKB/Swiss-Prot (Q96RU2.1)"
     Region          <162..634
                     /region_name="UBP14"
                     /note="Uncharacterized Zn-finger protein, UBP-type
                     [General function prediction only]; COG5207"
                     /db_xref="CDD:227532"
     Region          163..648
                     /region_name="Peptidase_C19I"
                     /note="A subfamily of Peptidase C19. Peptidase C19
                     contains ubiquitinyl hydrolases. They are intracellular
                     peptidases that remove ubiquitin molecules from
                     polyubiquinated peptides by cleavage of isopeptide bonds.
                     They hydrolyze bonds involving the carboxyl...; cd02665"
                     /db_xref="CDD:239130"
     Site            order(166,171,600,618)
                     /site_type="active"
                     /db_xref="CDD:239130"
     Site            375
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96RU2.1)"
     Region          477..535
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RU2.1)"
     Site            550
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5I043; propagated from
                     UniProtKB/Swiss-Prot (Q96RU2.1)"
     Region          697..728
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RU2.1)"
     Site            714
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16901786; propagated from
                     UniProtKB/Swiss-Prot (Q96RU2.1)"
     Region          798..1077
                     /region_name="USP28_C"
                     /note="carboxyl-terminal domain of ubiquitin-specific
                     protease 28 (USP28); cd20487"
                     /db_xref="CDD:380452"
     Site            1048
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96RU2.1)"
     CDS             1..1077
                     /gene="USP28"
                     /coded_by="NM_020886.4:72..3305"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS31680.1"
                     /db_xref="GeneID:57646"
                     /db_xref="HGNC:HGNC:12625"
                     /db_xref="MIM:610748"
ORIGIN      
        1 mtaelqqdda agaadghgss cqmllnqlre itgiqdpsfl healkasngd itqavslltd
       61 ervkepsqdt vatepseveg saankevlak vidlthdnkd dlqaaialsl lespkiqadg
      121 rdlnrmheat saetkrskrk rcevwgenpn pndwrrvdgw pvglknvgnt cwfsaviqsl
      181 fqlpefrrlv lsyslpqnvl encrshtekr nimfmqelqy lfalmmgsnr kfvdpsaald
      241 llkgafrsse eqqqdvseft hklldwleda fqlavnvnsp rnksenpmvq lfygtflteg
      301 vregkpfcnn etfgqyplqv ngyrnldecl egamvegdve llpsdhsvky gqerwftklp
      361 pvltfelsrf efnqslgqpe kihnklefpq iiymdrymyr skelirnkre cirklkeeik
      421 ilqqkleryv kygsgparfp lpdmlkyvie fastkpases cppesdthmt lplssvhcsv
      481 sdqtskests tesssqdves tfsspedslp kskpltssrs smempsqpap rtvtdeeinf
      541 vktclqrwrs eieqdiqdlk tciasttqti eqmycdpllr qvpyrlhavl vhegqanagh
      601 ywayiynqpr qswlkyndis vtessweeve rdsygglrnv sayclmyind klpyfnaeaa
      661 ptesdqmsev ealsvelkhy iqednwrfeq eveeweeeqs ckipqmesst nsssqdysts
      721 qepsvasshg vrclssehav ivkeqtaqai antarayeks gveaalsevm lspamqgvil
      781 aiakarqtfd rdgseaglik afheeysrly qlaketptsh sdprlqhvlv yffqneapkr
      841 vvertlleqf adknlsyder sisimkvaqa klkeigpddm nmeeykkwhe dyslfrkvsv
      901 ylltglelyq kgkyqealsy lvyayqsnaa llmkgprrgv kesvialyrr kcllelnaka
      961 aslfetnddh svteginvmn eliipcihli inndiskddl daievmrnhw csylgqdiae
     1021 nlqlclgefl prlldpsaei ivlkepptir pnspydlcsr faavmesiqg vstvtvk
//
LOCUS       NP_001381850            1299 aa            linear   PRI 08-FEB-2023
DEFINITION  latent-transforming growth factor beta-binding protein 1 isoform 22
            precursor [Homo sapiens].
ACCESSION   NP_001381850
VERSION     NP_001381850.1
DBSOURCE    REFSEQ: accession NM_001394921.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1299)
  AUTHORS   Gu H, Wang W, Sun C, Ding L, Li L, Shu P and Xu J.
  TITLE     Immune suppressive signaling regulated by latent transforming
            growth factor beta binding protein 1 promotes metastasis in
            cervical cancer
  JOURNAL   Braz J Med Biol Res 55, e12206 (2023)
   PUBMED   36629522
  REMARK    GeneRIF: Immune suppressive signaling regulated by latent
            transforming growth factor beta binding protein 1 promotes
            metastasis in cervical cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1299)
  AUTHORS   Przyklenk M, Georgieva VS, Metzen F, Mostert S, Kobbe B, Callewaert
            B, Sengle G, Brachvogel B, Mecham RP, Paulsson M, Wagener R, Koch M
            and Schiavinato A.
  TITLE     LTBP1 promotes fibrillin incorporation into the extracellular
            matrix
  JOURNAL   Matrix Biol 110, 60-75 (2022)
   PUBMED   35452817
  REMARK    GeneRIF: LTBP1 promotes fibrillin incorporation into the
            extracellular matrix.
REFERENCE   3  (residues 1 to 1299)
  AUTHORS   Williamson DB, Sohn CJ, Ito A and Haltiwanger RS.
  TITLE     POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in
            fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1
  JOURNAL   J Biol Chem 297 (3), 101055 (2021)
   PUBMED   34411563
  REMARK    GeneRIF: POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in
            fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1.
REFERENCE   4  (residues 1 to 1299)
  AUTHORS   Pottie L, Adamo CS, Beyens A, Lutke S, Tapaneeyaphan P, De Clercq
            A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart
            JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N,
            Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain
            M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G and
            Callewaert B.
  TITLE     Bi-allelic premature truncating variants in LTBP1 cause cutis laxa
            syndrome
  JOURNAL   Am J Hum Genet 108 (6), 1095-1114 (2021)
   PUBMED   33991472
  REMARK    GeneRIF: Bi-allelic premature truncating variants in LTBP1 cause
            cutis laxa syndrome.
            Erratum:[Am J Hum Genet. 2021 Dec 2;108(12):2386-2388. PMID:
            34861177]
REFERENCE   5  (residues 1 to 1299)
  AUTHORS   Taipale J, Saharinen J, Hedman K and Keski-Oja J.
  TITLE     Latent transforming growth factor-beta 1 and its binding protein
            are components of extracellular matrix microfibrils
  JOURNAL   J Histochem Cytochem 44 (8), 875-889 (1996)
   PUBMED   8756760
REFERENCE   6  (residues 1 to 1299)
  AUTHORS   Saharinen J, Taipale J and Keski-Oja J.
  TITLE     Association of the small latent transforming growth factor-beta
            with an eight cysteine repeat of its binding protein LTBP-1
  JOURNAL   EMBO J 15 (2), 245-253 (1996)
   PUBMED   8617200
REFERENCE   7  (residues 1 to 1299)
  AUTHORS   Olofsson A, Ichijo H, Moren A, ten Dijke P, Miyazono K and Heldin
            CH.
  TITLE     Efficient association of an amino-terminally extended form of human
            latent transforming growth factor-beta binding protein with the
            extracellular matrix
  JOURNAL   J Biol Chem 270 (52), 31294-31297 (1995)
   PUBMED   8537398
REFERENCE   8  (residues 1 to 1299)
  AUTHORS   Stenman G, Sahlin P, Olofsson A, Geurts van Kessel A and Miyazono
            K.
  TITLE     Assignment of the gene encoding the latent TGF-beta 1-binding
            protein (LTBP1) to human chromosome 2, region p12-->q22
  JOURNAL   Cytogenet Cell Genet 66 (2), 117-119 (1994)
   PUBMED   8287682
REFERENCE   9  (residues 1 to 1299)
  AUTHORS   Miyazono K, Olofsson A, Colosetti P and Heldin CH.
  TITLE     A role of the latent TGF-beta 1-binding protein in the assembly and
            secretion of TGF-beta 1
  JOURNAL   EMBO J 10 (5), 1091-1101 (1991)
   PUBMED   2022183
REFERENCE   10 (residues 1 to 1299)
  AUTHORS   Kanzaki T, Olofsson A, Moren A, Wernstedt C, Hellman U, Miyazono K,
            Claesson-Welsh L and Heldin CH.
  TITLE     TGF-beta 1 binding protein: a component of the large latent complex
            of TGF-beta 1 with multiple repeat sequences
  JOURNAL   Cell 61 (6), 1051-1061 (1990)
   PUBMED   2350783
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC019195.10, AC019127.10 and
            AC020594.6.
            
            Summary: The protein encoded by this gene belongs to the family of
            latent TGF-beta binding proteins (LTBPs). The secretion and
            activation of TGF-betas is regulated by their association with
            latency-associated proteins and with latent TGF-beta binding
            proteins. The product of this gene targets latent complexes of
            transforming growth factor beta to the extracellular matrix, where
            the latent cytokine is subsequently activated by several different
            mechanisms. Alternatively spliced transcript variants encoding
            different isoforms have been identified. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.2583622.1,
                                           SRR14038192.2608683.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1299
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.3"
     Protein         1..1299
                     /product="latent-transforming growth factor beta-binding
                     protein 1 isoform 22 precursor"
                     /note="TGF-beta1-BP-1; transforming growth factor
                     beta-1-binding protein 1; LTBP-1"
                     /calculated_mol_wt=140338
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2316
     Region          241..276
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          300..>330
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(300,303,317)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          362..397
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          516..538
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          535..576
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(535,538,553)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          577..617
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(577,580,594)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          618..651
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(618,621,635)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          658..697
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(658,661,675)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          699..730
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(699,702,716)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          740..780
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(740,743,757)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          781..811
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(781,784,799)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          822..863
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(822,825,840)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          937..979
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          1113..1155
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          1240..>1274
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1240,1243,1261)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     CDS             1..1299
                     /gene="LTBP1"
                     /gene_synonym="ARCL2E"
                     /coded_by="NM_001394921.1:143..4042"
                     /note="isoform 22 precursor is encoded by transcript
                     variant 22"
                     /db_xref="GeneID:4052"
                     /db_xref="HGNC:HGNC:6714"
                     /db_xref="MIM:150390"
ORIGIN      
        1 mdtklmcllf ffslppllvs nhtgrikvvf tpsickvtct kgscqnscek gntttlisen
       61 ghaadtltat nfrvvichlp cmnggqcssr dkcqcppnft gklcqipvhg asvpklyqhs
      121 qqpgkalgth vihsthtlpl tvtsqqgvkv kfppnivnih vkhppeasvq ihqvsridgp
      181 tgqktkeaqp gqsqvsyqgl pvqktqtihs tyshqqviph vypvaaktql grcfqetigs
      241 qcgkalpgls kqedccgtvg tswgfnkcqk cpkkpsyhgy nqmmeclpgy krvnntfcqd
      301 inecqlqgvc pngeclntmg syrctckigf gpdptfsscv pdppviseek gpcyrlvssg
      361 rqcmhplsvh ltkqlcccsv gkawgphcek cplpgtakee pvealtfsre hgpgvaepev
      421 atappekeip sldqektkle pgqpqlspgi stihlhpqfp viektsppvp vevapeasts
      481 sasqviaptq vteinectvn pdicgaghci nlpvrytcic yegyrfseqq rkcvdidect
      541 qvqhlcsqgr centegsflc icpagfmase egtncidvde clrpdvcgeg hcvntvgafr
      601 ceycdsgyrm tqrgrcedid eclnpstcpd eqcvnspgsy qcvpctegfr gwngqcldvd
      661 eclepnvcan gdcsnlegsy mcschkgytr tpdhkhcrdi decqqgnlcv ngqckntegs
      721 frctcgqgyq lsaakdqced idecqhrhlc ahgqcrnteg sfqcvcdqgy rasglgdhce
      781 dinecledks vcqrgdcint agsydctcpd gfqlddnktc qdinecehpg lcgpqgecln
      841 tegsfhcvcq qgfsisadgr tcedvnecel lsgvcgeafc envegsflcv cadenqeysp
      901 mtgqcrsrts tdldvdvdqp keekkecyyn lndaslcdnv lapnvtkqec cctsgvgwgd
      961 nceifpcpvl gtaeftemcp kgkgfvpage ssseaggeny kdadecllfg qeickngfcl
     1021 ntrpgyecyc kqgtyydpvk lqcfdmdecq dpsscidgqc vntegsyncf cthpmvldas
     1081 ekrcirpaes neqieetdvy qdlcwehlsd eyvcsrplvg kqttyteccc lygeawgmqc
     1141 alcplkdsdd yaqlcnipvt grrqpygrda lvdfseqytp eadpyfiqdr flnsfeelqa
     1201 eecgilngce ngrcvrvqeg ytcdcfdgyh ldtakmtcvd vnecdelnnr mslcknakci
     1261 ntdgsykclc lpgyvpsdkp nyctplntal nlekdsdle
//
LOCUS       NP_001257577             569 aa            linear   PRI 05-MAR-2023
DEFINITION  sodium/mannose cotransporter SLC5A10 isoform 3 [Homo sapiens].
ACCESSION   NP_001257577
VERSION     NP_001257577.1
DBSOURCE    REFSEQ: accession NM_001270648.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 569)
  AUTHORS   Loomis SJ, Kottgen A, Li M, Tin A, Coresh J, Boerwinkle E, Gibbs R,
            Muzny D, Pankow J, Selvin E and Duggal P.
  TITLE     Rare variants in SLC5A10 are associated with serum
            1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in
            Communities (ARIC) Study
  JOURNAL   Sci Rep 9 (1), 5941 (2019)
   PUBMED   30976018
  REMARK    GeneRIF: Rare variants in SLC5A10 are associated with serum
            1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in
            Communities (ARIC) Study.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 569)
  AUTHORS   Hong MJ, Yoo SS, Choi JE, Kang HG, Do SK, Lee JH, Lee WK, Lee J,
            Lee SY, Cha SI, Kim CH, Lee EB, Cho S, Jheon S and Park JY.
  TITLE     Functional intronic variant of SLC5A10 affects DRG2 expression and
            survival outcomes of early-stage non-small-cell lung cancer
  JOURNAL   Cancer Sci 109 (12), 3902-3909 (2018)
   PUBMED   30281872
  REMARK    GeneRIF: Results show that rs2257609 C>T is located in the intron
            region of SLC5A10 and is significantly associated with worse
            overall and disease-free survival of non-small-cell lung cancer
            (NSCLC) patients. The rs2257609 C>T variant does not affect the
            expression of SLC5A10 mRNA, but alters the mRNA expression and
            promoter activity of DRG2.
REFERENCE   3  (residues 1 to 569)
  AUTHORS   Ghezzi C, Gorraitz E, Hirayama BA, Loo DD, Grempler R, Mayoux E and
            Wright EM.
  TITLE     Fingerprints of hSGLT5 sugar and cation selectivity
  JOURNAL   Am J Physiol Cell Physiol 306 (9), C864-C870 (2014)
   PUBMED   24573086
  REMARK    GeneRIF: hSGLT5 is a sodium/mannose transporter that is blocked by
            phlorizin. Li(+) and H(+) ions were also able to drive mannose
            transport, and transport was electrogenic.
REFERENCE   4  (residues 1 to 569)
  AUTHORS   Grempler R, Augustin R, Froehner S, Hildebrandt T, Simon E, Mark M
            and Eickelmann P.
  TITLE     Functional characterisation of human SGLT-5 as a novel
            kidney-specific sodium-dependent sugar transporter
  JOURNAL   FEBS Lett 586 (3), 248-253 (2012)
   PUBMED   22212718
  REMARK    GeneRIF: SGLT-5 as a kidney mannose transporter
REFERENCE   5  (residues 1 to 569)
  AUTHORS   Chen J, Williams S, Ho S, Loraine H, Hagan D, Whaley JM and Feder
            JN.
  TITLE     Quantitative PCR tissue expression profiling of the human SGLT2
            gene and related family members
  JOURNAL   Diabetes Ther 1 (2), 57-92 (2010)
   PUBMED   22127746
REFERENCE   6  (residues 1 to 569)
  AUTHORS   Lynn KS, Li LL, Lin YJ, Wang CH, Sheng SH, Lin JH, Liao W, Hsu WL
            and Pan WH.
  TITLE     A neural network model for constructing endophenotypes of common
            complex diseases: an application to male young-onset hypertension
            microarray data
  JOURNAL   Bioinformatics 25 (8), 981-988 (2009)
   PUBMED   19237446
REFERENCE   7  (residues 1 to 569)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   8  (residues 1 to 569)
  AUTHORS   Wright EM and Turk E.
  TITLE     The sodium/glucose cotransport family SLC5
  JOURNAL   Pflugers Arch 447 (5), 510-518 (2004)
   PUBMED   12748858
  REMARK    Review article
            Erratum:[Pflugers Arch. 2004 Feb;447(5):813-5]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP332461.1, BC062617.1,
            AA745934.1 and AC003957.1.
            
            Summary: This gene is a member of the sodium/glucose transporter
            family. Members of this family are sodium-dependent transporters
            and can be divided into two subfamilies based on sequence homology,
            one that co-transports sugars and the second that transports
            molecules such as ascorbate, choline, iodide, lipoate,
            monocaroboxylates, and pantothenate. The protein encoded by this
            gene has the highest affinity for mannose and has been reported to
            be most highly expressed in the kidney. This protein may function
            as a kidney-specific, sodium-dependent mannose and fructose
            co-transporter. Alternative splicing results in multiple transcript
            variants that encode different protein isoforms. [provided by
            RefSeq, Jul 2012].
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            exon and uses an alternate in-frame splice site in the coding
            region, compared to variant 1. This results in a shorter protein
            (isoform 3), compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC062617.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..569
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     Protein         1..569
                     /product="sodium/mannose cotransporter SLC5A10 isoform 3"
                     /note="sodium/glucose cotransporter 5; Na(+)/glucose
                     cotransporter 5; solute carrier family 5 (sodium/sugar
                     cotransporter), member 10; solute carrier family 5
                     (sodium/glucose cotransporter), member 10; sodium/mannose
                     cotransporter SLC5A10"
                     /calculated_mol_wt=61485
     Region          17..569
                     /region_name="SLC5-6-like_sbd"
                     /note="Solute carrier families 5 and 6-like; solute
                     binding domain; cl00456"
                     /db_xref="CDD:444915"
     Site            order(68,71,349,352..353)
                     /site_type="other"
                     /note="Na binding site [ion binding]"
                     /db_xref="CDD:271356"
     CDS             1..569
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /coded_by="NM_001270648.3:42..1751"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS59278.1"
                     /db_xref="GeneID:125206"
                     /db_xref="HGNC:HGNC:23155"
                     /db_xref="MIM:618636"
ORIGIN      
        1 maanstsdlh tpgtqlsvad iivitvyfal nvavgiwssc rasrntvngy flagrdmtww
       61 pigaslfass egsglfigla gsgaagglav agfewnatyv llalawvfvp iyisseivtl
      121 peyiqkrygg qrirmylsvl slllsvftki sldlyagalf vhiclgwnfy lstiltlgit
      181 alytiaafdq iggygqleaa yaqaipsrti anttchlprt damhmfrdph tgdlpwtgmt
      241 fgltimatwy wctdqvivqr slsardlnha kagsilasyl kmlpmgliim pgmisralfp
      301 ddvgcvvpse clracgaevg csniaypklv melmpiglrg lmiavmlaal mssltsifns
      361 sstlftmdiw rrlrprsger elllvgrlvi valigvsvaw ipvlqdsnsg qlfiymqsvt
      421 sslappvtav fvlgvfwrra neqgafwgli aglvvgatrl vleflnpapp cgepdtrpav
      481 lgsihylhfa valfalsgav vvagslltpp pqsvqienlt wwtlaqdvpl gtkagdgqtp
      541 qkhafwarvc gfnaillmcv niffyayfa
//
LOCUS       NP_079033               1298 aa            linear   PRI 12-MAR-2023
DEFINITION  histone-lysine N-methyltransferase EHMT1 isoform 1 [Homo sapiens].
ACCESSION   NP_079033 XP_947661 XP_951210 XP_951212 XP_951215 XP_951217
            XP_951219 XP_951221 XP_951223 XP_951226
VERSION     NP_079033.4
DBSOURCE    REFSEQ: accession NM_024757.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1298)
  AUTHORS   Nachiyappan A, Gupta N and Taneja R.
  TITLE     EHMT1/EHMT2 in EMT, cancer stemness and drug resistance: emerging
            evidence and mechanisms
  JOURNAL   FEBS J 289 (5), 1329-1351 (2022)
   PUBMED   34954891
  REMARK    GeneRIF: EHMT1/EHMT2 in EMT, cancer stemness and drug resistance:
            emerging evidence and mechanisms.
            Review article
REFERENCE   2  (residues 1 to 1298)
  AUTHORS   Nachiyappan A, Soon JLJ, Lim HJ, Lee VK and Taneja R.
  TITLE     EHMT1 promotes tumor progression and maintains stemness by
            regulating ALDH1A1 expression in alveolar rhabdomyosarcoma
  JOURNAL   J Pathol 256 (3), 349-362 (2022)
   PUBMED   34897678
  REMARK    GeneRIF: EHMT1 promotes tumor progression and maintains stemness by
            regulating ALDH1A1 expression in alveolar rhabdomyosarcoma.
REFERENCE   3  (residues 1 to 1298)
  AUTHORS   Sanchez NA, Kallweit LM, Trnka MJ, Clemmer CL and Al-Sady B.
  TITLE     Heterodimerization of H3K9 histone methyltransferases G9a and GLP
            activates methyl reading and writing capabilities
  JOURNAL   J Biol Chem 297 (5), 101276 (2021)
   PUBMED   34619147
  REMARK    GeneRIF: Heterodimerization of H3K9 histone methyltransferases G9a
            and GLP activates methyl reading and writing capabilities.
REFERENCE   4  (residues 1 to 1298)
  AUTHORS   Zhang J, Gao K, Xie H, Wang D, Zhang P, Wei T, Yan Y, Pan Y, Ye W,
            Chen H, Shi Q, Li Y, Zhao SM, Hou X, Weroha SJ, Wang Y, Zhang J,
            Karnes RJ, He HH, Wang L, Wang C and Huang H.
  TITLE     SPOP mutation induces DNA methylation via stabilizing GLP/G9a
  JOURNAL   Nat Commun 12 (1), 5716 (2021)
   PUBMED   34588438
  REMARK    GeneRIF: SPOP mutation induces DNA methylation via stabilizing
            GLP/G9a.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1298)
  AUTHORS   Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee
            A, Genevieve D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC,
            Sistermans EA, de Vries BB and van Bokhoven H.
  TITLE     Loss-of-function mutations in euchromatin histone methyl
            transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
  JOURNAL   Am J Hum Genet 79 (2), 370-377 (2006)
   PUBMED   16826528
  REMARK    GeneRIF: Haploinsufficiency of EHMT1 is causative for 9q
            subtelomeric deletion syndrome.
REFERENCE   6  (residues 1 to 1298)
  AUTHORS   Cebrian A, Pharoah PD, Ahmed S, Ropero S, Fraga MF, Smith PL,
            Conroy D, Luben R, Perkins B, Easton DF, Dunning AM, Esteller M and
            Ponder BA.
  TITLE     Genetic variants in epigenetic genes and breast cancer risk
  JOURNAL   Carcinogenesis 27 (8), 1661-1669 (2006)
   PUBMED   16501248
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 1298)
  AUTHORS   Ueda J, Tachibana M, Ikura T and Shinkai Y.
  TITLE     Zinc finger protein Wiz links G9a/GLP histone methyltransferases to
            the co-repressor molecule CtBP
  JOURNAL   J Biol Chem 281 (29), 20120-20128 (2006)
   PUBMED   16702210
REFERENCE   8  (residues 1 to 1298)
  AUTHORS   Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de
            Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns
            JP, Yntema HG, Brunner HG, de Vries BB and van Bokhoven H.
  TITLE     Disruption of the gene Euchromatin Histone Methyl Transferase1
            (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion
            syndrome
  JOURNAL   J Med Genet 42 (4), 299-306 (2005)
   PUBMED   15805155
  REMARK    GeneRIF: This indicates that haploinsufficiency of Eu-HMTase1 is
            responsible for the 9q submicroscopic subtelomeric deletion
            syndrome
REFERENCE   9  (residues 1 to 1298)
  AUTHORS   Ogawa H, Ishiguro K, Gaubatz S, Livingston DM and Nakatani Y.
  TITLE     A complex with chromatin modifiers that occupies E2F- and
            Myc-responsive genes in G0 cells
  JOURNAL   Science 296 (5570), 1132-1136 (2002)
   PUBMED   12004135
REFERENCE   10 (residues 1 to 1298)
  AUTHORS   Kleefstra,T. and de Leeuw,N.
  TITLE     Kleefstra Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20945554
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC047504.1, AB028932.1,
            BC011608.2 and CA426038.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 3, 2009 this sequence version replaced NP_079033.3.
            
            Summary: The protein encoded by this gene is a histone
            methyltransferase that methylates the lysine-9 position of histone
            H3. This action marks the genomic region packaged with these
            methylated histones for transcriptional repression. This protein
            may be involved in the silencing of MYC- and E2F-responsive genes
            and therefore could play a role in the G0/G1 cell cycle transition.
            Defects in this gene are a cause of chromosome 9q subtelomeric
            deletion syndrome (9q-syndrome, also known as Kleefstra syndrome).
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Aug 2017].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.42755.1,
                                           SRR1803613.6578.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000460843.6/ ENSP00000417980.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1298
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     Protein         1..1298
                     /product="histone-lysine N-methyltransferase EHMT1 isoform
                     1"
                     /EC_number="2.1.1.367"
                     /note="histone-lysine N-methyltransferase EHMT1;
                     histone-lysine N-methyltransferase, H3 lysine-9 specific
                     5; histone H3-K9 methyltransferase 5; euchromatic
                     histone-lysine N-methyltransferase 1; H3-K9-HMTase 5;
                     lysine N-methyltransferase 1D; G9a-like protein 1; EHMT1
                     intronic transcript 1"
                     /calculated_mol_wt=141336
     Region          1..111
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000269|PubMed:25489052; propagated from
                     UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Region          144..192
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Region          211..234
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Region          339..479
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Site            435
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Site            483
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Region          514..644
                     /region_name="EHMT_ZBD"
                     /note="Zinc-binding domain of euchromatic histone lysine
                     methyltransferases EHMT1 and EHTM2; cd20905"
                     /db_xref="CDD:411018"
     Region          644..717
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Region          737..766
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Region          742..836
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          742..768
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          772..801
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Region          774..803
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(805,807,811..812,815..817,819..820,824,827,836,838,
                     840,844..845,848..850,852..853,857,860,870,872,874,
                     878..879,882..884,886..887,891,894,903)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          805..836
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          805..834
                     /region_name="ANK 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Region          810..903
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          838..870
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          838..868
                     /region_name="ANK 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Region          872..903
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          872..901
                     /region_name="ANK 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Region          877..969
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          905..936
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          905..934
                     /region_name="ANK 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Region          905..907
                     /region_name="Histone H3K9me binding"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Region          938..969
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          938..967
                     /region_name="ANK 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Region          971..1004
                     /region_name="ANK 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Site            1004
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Region          1036..1266
                     /region_name="SET_EHMT1"
                     /note="SET domain (including pre-SET and post-SET domains)
                     found in euchromatic histone-lysine N-methyltransferase 1
                     (EHMT1) and similar proteins; cd10535"
                     /db_xref="CDD:380933"
     Site            1048
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Site            order(1136..1138,1155,1162,1165..1166,1168,1171..1176,
                     1179,1186,1197..1201,1209,1211,1224,1240,1242,1245..1246,
                     1249..1250,1254..1258)
                     /site_type="active"
                     /db_xref="CDD:380933"
     Site            order(1136..1138,1172..1173,1197..1201,1242,1246,
                     1254..1258)
                     /site_type="other"
                     /note="SAM binding site"
                     /db_xref="CDD:380933"
     Site            1155
                     /site_type="other"
                     /note="Histone H3K9me binding.
                     /evidence=ECO:0000269|PubMed:18264113,
                     ECO:0000269|PubMed:20084102; propagated from
                     UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Site            order(1162,1165..1166,1168,1171,1174,1176,1186,1245..1246,
                     1249..1250)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:380933"
     Region          1162..1181
                     /region_name="Interaction with histone H3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Site            order(1203,1256,1258,1263)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:380933"
     Region          1242..1245
                     /region_name="Interaction with histone H3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     Region          1274..1298
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9B1.4)"
     CDS             1..1298
                     /gene="EHMT1"
                     /gene_synonym="EHMT1-IT1; Eu-HMTase1; EUHMTASE1; FP13812;
                     GLP; GLP1; KLEFS1; KMT1D"
                     /coded_by="NM_024757.5:25..3921"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7050.2"
                     /db_xref="GeneID:79813"
                     /db_xref="HGNC:HGNC:24650"
                     /db_xref="MIM:607001"
ORIGIN      
        1 maaadaeavp argepqqdcc vktellgeet pmaadegsae kqageahmaa dgetngscen
       61 sdasshanaa khtqdsarvn pqdgtntltr iaengvserd seaakqnhvt addfvqtsvi
      121 gsngyilnkp alqaqplrtt stlasslpgh aaktlpggag kgrtpsafpq tpaappatlg
      181 egsadtedrk lpapgadvkv hrarktmpks vvglhaaskd prevreardh kepkeeinkn
      241 isdfgrqqll ppfpslhqsl pqnqcymatt ksqtaclpfv laaavsrkkk rrmgtyslvp
      301 kkktkvlkqr tviemfksit hstvgskgek dlgasslhvn geslemdsde ddseeleedd
      361 ghgaeqaaaf ptedsrtske smseadraqk mdgeseeeqe svdtgeeeeg gdesdlsses
      421 sikkkflkrk gktdspwikp arkrrrrsrk kpsgalgses ykssagsaeq tapgdstgym
      481 evsldsldlr vkgilssqae glangpdvle tdglqevplc scrmetpksr eittlannqc
      541 matesvdhel grctnsvvky elmrpsnkap llvlcedhrg rmvkhqccpg cgyfctagnf
      601 mecqpessis hrfhkdcasr vnnasycphc geesskakev tiakadttst vtpvpgqekg
      661 salegradtt tgsaagppls eddklqgaas hvpegfdptg paglgrptpg lsqgpgketl
      721 esalialdse kpkklrfhpk qlyfsarqge lqkvllmlvd gidpnfkmeh qnkrsplhaa
      781 aeaghvdich mlvqaganid tcsedqrtpl meaaennhle avkylikaga lvdpkdaegs
      841 tclhlaakkg hyevvqylls ngqmdvncqd dggwtpmiwa teykhvdlvk lllskgsdin
      901 irdneenicl hwaafsgcvd iaeillaakc dlhavnihgd splhiaaren rydcvvlfls
      961 rdsdvtlknk egetplqcas lnsqvwsalq mskalqdsap drpspveriv srdiargyer
     1021 ipipcvnavd sepcpsnyky vsqncvtspm nidrnithlq ycvciddcss sncmcgqlsm
     1081 rcwydkdgrl lpefnmaepp lifecnhacs cwrncrnrvv qnglrarlql yrtrdmgwgv
     1141 rslqdippgt fvceyvgeli sdseadvree dsylfdldnk dgevycidar fygnvsrfin
     1201 hhcepnlvpv rvfmahqdlr fpriaffstr lieageqlgf dygerfwdik gklfscrcgs
     1261 pkcrhssaal aqrqasaaqe aqedglpdts saaaadpl
//
LOCUS       NP_001136403             450 aa            linear   PRI 15-MAR-2023
DEFINITION  apoptosis inhibitor 5 isoform c [Homo sapiens].
ACCESSION   NP_001136403
VERSION     NP_001136403.1
DBSOURCE    REFSEQ: accession NM_001142931.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 450)
  AUTHORS   Matsuzawa-Ishimoto Y, Yao X, Koide A, Ueberheide BM, Axelrad JE,
            Reis BS, Parsa R, Neil JA, Devlin JC, Rudensky E, Dewan MZ, Cammer
            M, Blumberg RS, Ding Y, Ruggles KV, Mucida D, Koide S and Cadwell
            K.
  TITLE     The gammadelta IEL effector API5 masks genetic susceptibility to
            Paneth cell death
  JOURNAL   Nature 610 (7932), 547-554 (2022)
   PUBMED   36198790
  REMARK    GeneRIF: The gammadelta IEL effector API5 masks genetic
            susceptibility to Paneth cell death.
REFERENCE   2  (residues 1 to 450)
  AUTHORS   Deng T, Hu B, Wang X, Yan Y, Zhou J, Lin L, Xu Y, Zheng X and Zhou
            J.
  TITLE     DeSUMOylation of Apoptosis Inhibitor 5 by Avibirnavirus VP3
            Supports Virus Replication
  JOURNAL   mBio 12 (4), e0198521 (2021)
   PUBMED   34372697
  REMARK    GeneRIF: DeSUMOylation of Apoptosis Inhibitor 5 by Avibirnavirus
            VP3 Supports Virus Replication.
REFERENCE   3  (residues 1 to 450)
  AUTHORS   Sharma VK and Lahiri M.
  TITLE     Interplay between p300 and HDAC1 regulate acetylation and stability
            of Api5 to regulate cell proliferation
  JOURNAL   Sci Rep 11 (1), 16427 (2021)
   PUBMED   34385547
  REMARK    GeneRIF: Interplay between p300 and HDAC1 regulate acetylation and
            stability of Api5 to regulate cell proliferation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 450)
  AUTHORS   Zhang J, Lu Y, Zhang Y, Chen Y, Zhu W, Zhu H, Wu J and Tang J.
  TITLE     MicroRNA-224 modulates chemosensitivity of breast cancer cells to
            docetaxel by apoptosis inhibitor 5
  JOURNAL   J BUON 26 (2), 450-458 (2021)
   PUBMED   34076992
  REMARK    GeneRIF: MicroRNA-224 modulates chemosensitivity of breast cancer
            cells to docetaxel by apoptosis inhibitor 5.
REFERENCE   5  (residues 1 to 450)
  AUTHORS   Chen M, Wu W, Liu D, Lv Y, Deng H, Gao S, Gu Y, Huang M, Guo X, Liu
            B, Zhao B and Pang Q.
  TITLE     Evolution and Structure of API5 and Its Roles in Anti-Apoptosis
  JOURNAL   Protein Pept Lett 28 (6), 612-622 (2021)
   PUBMED   33319655
  REMARK    GeneRIF: Evolution and Structure of API5 and Its Roles in
            Anti-Apoptosis.
            Review article
REFERENCE   6  (residues 1 to 450)
  AUTHORS   Li Z, Hu CY, Mo BQ, Xu JD and Zhao Y.
  TITLE     [Effect of beta-carotene on gene expression of breast cancer cells]
  JOURNAL   Ai Zheng 22 (4), 380-384 (2003)
   PUBMED   12703993
REFERENCE   7  (residues 1 to 450)
  AUTHORS   Van den Berghe L, Laurell H, Huez I, Zanibellato C, Prats H and
            Bugler B.
  TITLE     FIF [fibroblast growth factor-2 (FGF-2)-interacting-factor], a
            nuclear putatively antiapoptotic factor, interacts specifically
            with FGF-2
  JOURNAL   Mol Endocrinol 14 (11), 1709-1724 (2000)
   PUBMED   11075807
REFERENCE   8  (residues 1 to 450)
  AUTHORS   Kim JW, Cho HS, Kim JH, Hur SY, Kim TE, Lee JM, Kim IK and Namkoong
            SE.
  TITLE     AAC-11 overexpression induces invasion and protects cervical cancer
            cells from apoptosis
  JOURNAL   Lab Invest 80 (4), 587-594 (2000)
   PUBMED   10780674
REFERENCE   9  (residues 1 to 450)
  AUTHORS   Gianfrancesco F, Esposito T, Ciccodicola A, D'Esposito M,
            Mazzarella R, D'Urso M and Forabosco A.
  TITLE     Molecular cloning and fine mapping of API5L1, a novel human gene
            strongly related to an antiapoptotic gene
  JOURNAL   Cytogenet Cell Genet 84 (3-4), 164-166 (1999)
   PUBMED   10393420
REFERENCE   10 (residues 1 to 450)
  AUTHORS   Tewari M, Yu M, Ross B, Dean C, Giordano A and Rubin R.
  TITLE     AAC-11, a novel cDNA that inhibits apoptosis after growth factor
            withdrawal
  JOURNAL   Cancer Res 57 (18), 4063-4069 (1997)
   PUBMED   9307294
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087276.13.
            
            Summary: This gene encodes an apoptosis inhibitory protein whose
            expression prevents apoptosis after growth factor deprivation. This
            protein suppresses the transcription factor E2F1-induced apoptosis
            and also interacts with, and negatively regulates Acinus, a nuclear
            factor involved in apoptotic DNA fragmentation. Its depletion
            enhances the cytotoxic action of the chemotherapeutic drugs.
            Multiple alternatively spliced transcript variants encoding
            different isoforms have been identified. [provided by RefSeq, Aug
            2011].
            
            Transcript Variant: This variant (3) lacks an in-frame exon in the
            5' coding region and a small segment in the 3' coding region that
            results in a frameshift, compared to variant 1. The resulting
            protein (isoform c) lacks an internal segment in the N-terminal
            region and has a shorter and distinct C-terminus, compared to
            isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.154098.1, AK294724.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..450
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p12"
     Protein         1..450
                     /product="apoptosis inhibitor 5 isoform c"
                     /note="fibroblast growth factor 2-interacting factor 2;
                     migration-inducing protein MIG8; FIF; antiapoptosis clone
                     11 protein; cell migration-inducing gene 8 protein"
                     /calculated_mol_wt=50609
     Region          4..449
                     /region_name="API5"
                     /note="Apoptosis inhibitory protein 5 (API5); pfam05918"
                     /db_xref="CDD:428672"
     CDS             1..450
                     /gene="API5"
                     /gene_synonym="AAC-11; AAC11"
                     /coded_by="NM_001142931.2:133..1485"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS44573.1"
                     /db_xref="GeneID:8539"
                     /db_xref="HGNC:HGNC:594"
                     /db_xref="MIM:609774"
ORIGIN      
        1 mptveelyrn ygiladateq vgqirrqaik elpqfatgen lprvadiltq llqtddsaef
       61 nlvnnallsi fkmdakgtlg glfsqilqge divreraikf lstklktlpd evltkeveel
      121 ilteskkvle dvtgeefvlf mkilsglksl qtvsgrqqlv elvaeqadle qtfnpsdpdc
      181 vdrllqctrq avplfsknvh strfvtyfce qvlpnlgtlt tpvegldiql evlkllaems
      241 sfcgdmekle tnlrklfdkl leymplppee aengenagne epklqfsyve cllysfhqlg
      301 rklpdfltak lnaeklkdfk irlqyfargl qvyirqlrla lqgktgealk teenkikvva
      361 lkitnninvl ikdlfhipps ykstvtlswk pvqkveigqk rasedttsgs ppkkssagpk
      421 rdarqiynpp sgkyssnlgn fnyerslqgk
//
LOCUS       NP_001339695             439 aa            linear   PRI 15-MAR-2023
DEFINITION  probable RNA-binding protein 23 isoform 1 [Homo sapiens].
ACCESSION   NP_001339695
VERSION     NP_001339695.1
DBSOURCE    REFSEQ: accession NM_001352766.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 439)
  AUTHORS   Han H, Lin T, Fang Z and Zhou G.
  TITLE     RBM23 Drives Hepatocellular Carcinoma by Activating NF-kappaB
            Signaling Pathway
  JOURNAL   Biomed Res Int 2021, 6697476 (2021)
   PUBMED   33791378
  REMARK    GeneRIF: RBM23 Drives Hepatocellular Carcinoma by Activating
            NF-kappaB Signaling Pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 439)
  AUTHORS   Faust TB, Yoon H, Nowak RP, Donovan KA, Li Z, Cai Q, Eleuteri NA,
            Zhang T, Gray NS and Fischer ES.
  TITLE     Structural complementarity facilitates E7820-mediated degradation
            of RBM39 by DCAF15
  JOURNAL   Nat Chem Biol 16 (1), 7-14 (2020)
   PUBMED   31686031
  REMARK    GeneRIF: aryl-sulfonamides neo-functionalize a shallow,
            non-conserved pocket on DCAF15 to selectively bind and degrade
            RBM39 and the closely related splicing factor RBM23 without the
            requirement for a high-affinity ligand
REFERENCE   3  (residues 1 to 439)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   4  (residues 1 to 439)
  AUTHORS   Varjosalo M, Keskitalo S, Van Drogen A, Nurkkala H, Vichalkovski A,
            Aebersold R and Gstaiger M.
  TITLE     The protein interaction landscape of the human CMGC kinase group
  JOURNAL   Cell Rep 3 (4), 1306-1320 (2013)
   PUBMED   23602568
REFERENCE   5  (residues 1 to 439)
  AUTHORS   Weimann M, Grossmann A, Woodsmith J, Ozkan Z, Birth P, Meierhofer
            D, Benlasfer N, Valovka T, Timmermann B, Wanker EE, Sauer S and
            Stelzl U.
  TITLE     A Y2H-seq approach defines the human protein methyltransferase
            interactome
  JOURNAL   Nat Methods 10 (4), 339-342 (2013)
   PUBMED   23455924
REFERENCE   6  (residues 1 to 439)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   7  (residues 1 to 439)
  AUTHORS   Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H,
            Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff
            S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksoz E, Droege A,
            Krobitsch S, Korn B, Birchmeier W, Lehrach H and Wanker EE.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
REFERENCE   8  (residues 1 to 439)
  AUTHORS   Dowhan DH, Hong EP, Auboeuf D, Dennis AP, Wilson MM, Berget SM and
            O'Malley BW.
  TITLE     Steroid hormone receptor coactivation and alternative RNA splicing
            by U2AF65-related proteins CAPERalpha and CAPERbeta
  JOURNAL   Mol Cell 17 (3), 429-439 (2005)
   PUBMED   15694343
REFERENCE   9  (residues 1 to 439)
  AUTHORS   Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X,
            Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X,
            Xu H, Guo M, Pan Z, Chen Y, Ge C, Yang S and Gu J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   10 (residues 1 to 439)
  AUTHORS   Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C,
            Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A,
            Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H,
            Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon
            O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere
            F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R,
            Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A,
            Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S,
            Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C,
            Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S,
            Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C,
            Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P,
            Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois
            M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V,
            Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J,
            Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F,
            Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F,
            Waterston R, Hood L and Weissenbach J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL132780.5 and AL135998.6.
            
            Summary: This gene encodes a member of the U2AF-like family of RNA
            binding proteins. This protein interacts with some steroid nuclear
            receptors, localizes to the promoter of a steroid- responsive gene,
            and increases transcription of steroid-responsive transcriptional
            reporters in a hormone-dependent manner. It is also implicated in
            the steroid receptor-dependent regulation of alternative splicing.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.74257.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..439
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     Protein         1..439
                     /product="probable RNA-binding protein 23 isoform 1"
                     /note="RNA-binding region (RNP1, RRM) containing 4;
                     splicing factor SF2; probable RNA-binding protein 23;
                     RNA-binding region-containing protein 4; coactivator of
                     activating protein-1 and estrogen recep- tors beta; CAPER
                     beta"
                     /calculated_mol_wt=48600
     Region          13..159
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86U06.1)"
     Region          99..438
                     /region_name="SF-CC1"
                     /note="splicing factor, CC1-like family; TIGR01622"
                     /db_xref="CDD:273721"
     Site            128
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86U06.1)"
     Site            149
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q86U06.1)"
     CDS             1..439
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
                     /coded_by="NM_001352766.2:399..1718"
                     /note="isoform 1 is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS41921.1"
                     /db_xref="GeneID:55147"
                     /db_xref="HGNC:HGNC:20155"
ORIGIN      
        1 masddfdivi eamleapykk eedeqqrkev kkdypsntts stsnsgnets gsstigetsk
       61 kkrsrshnks rdrkrsrsrd rdryrrrnsr srspgrqcrh rsrswdrrhg sesrsrdhrr
      121 edrvhyrspp latgyryghs ksphfreksp vrepvdnlsp eerdartvfc mqlaarirpr
      181 dledffsavg kvrdvriisd rnsrrskgia yvefceiqsv plaigltgqr llgvpiivqa
      241 sqaeknrlaa mannlqkgng gpmrlyvgsl hfnitedmlr gifepfgkid nivlmkdsdt
      301 grskgygfit fsdsecarra leqlngfela grpmrvghvt erldggtdit fpdgdqeldl
      361 gsaggrfqlm aklaegagiq lpstaaaaaa aaaqaaalql ngavplgaln paaltalspa
      421 lnlasqcfql sslftpqtm
//
LOCUS       NP_001159762             303 aa            linear   PRI 16-MAR-2023
DEFINITION  ATP-sensitive inward rectifier potassium channel 11 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001159762
VERSION     NP_001159762.1
DBSOURCE    REFSEQ: accession NM_001166290.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 303)
  AUTHORS   Moazzam-Jazi M, Najd-Hassan-Bonab L, Masjoudi S, Tohidi M, Hedayati
            M, Azizi F and Daneshpour MS.
  TITLE     Risk of type 2 diabetes and KCNJ11 gene polymorphisms: a nested
            case-control study and meta-analysis
  JOURNAL   Sci Rep 12 (1), 20709 (2022)
   PUBMED   36456687
  REMARK    GeneRIF: Risk of type 2 diabetes and KCNJ11 gene polymorphisms: a
            nested case-control study and meta-analysis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 303)
  AUTHORS   Tran NQ, Truong SD, Ma PT, Hoang CK, Le BH, Dinh TTN, Van Tran L,
            Tran TV, Le LHG, Le KT, Nguyen HT, Vu HA, Mai TP and Do MD.
  TITLE     Association of KCNJ11 and ABCC8 single-nucleotide polymorphisms
            with type 2 diabetes mellitus in a Kinh Vietnamese population
  JOURNAL   Medicine (Baltimore) 101 (46), e31653 (2022)
   PUBMED   36401380
  REMARK    GeneRIF: Association of KCNJ11 and ABCC8 single-nucleotide
            polymorphisms with type 2 diabetes mellitus in a Kinh Vietnamese
            population.
REFERENCE   3  (residues 1 to 303)
  AUTHORS   Alidoust L, Ajamian F, Abbaspour S, Sharafshah A and Keshavarz P.
  TITLE     The E23K Polymorphism of KCNJ11 and Diabetic Retinopathy in
            Northern Iran
  JOURNAL   Br J Biomed Sci 79, 10245 (2022)
   PUBMED   35996512
  REMARK    GeneRIF: The E23K Polymorphism of KCNJ11 and Diabetic Retinopathy
            in Northern Iran.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 303)
  AUTHORS   Ashfield R and Ashcroft SJ.
  TITLE     Cloning of the promoters for the beta-cell ATP-sensitive K-channel
            subunits Kir6.2 and SUR1
  JOURNAL   Diabetes 47 (8), 1274-1280 (1998)
   PUBMED   9703328
REFERENCE   5  (residues 1 to 303)
  AUTHORS   Iwasaki N, Kawamura M, Yamagata K, Cox NJ, Karibe S, Ohgawara H,
            Inagaki N, Seino S, Bell GI and Omori Y.
  TITLE     Identification of microsatellite markers near the human genes
            encoding the beta-cell ATP-sensitive K+ channel and linkage studies
            with NIDDM in Japanese
  JOURNAL   Diabetes 45 (2), 267-269 (1996)
   PUBMED   8549873
REFERENCE   6  (residues 1 to 303)
  AUTHORS   Inagaki N, Gonoi T, Clement JP 4th, Namba N, Inazawa J, Gonzalez G,
            Aguilar-Bryan L, Seino S and Bryan J.
  TITLE     Reconstitution of IKATP: an inward rectifier subunit plus the
            sulfonylurea receptor
  JOURNAL   Science 270 (5239), 1166-1170 (1995)
   PUBMED   7502040
REFERENCE   7  (residues 1 to 303)
  AUTHORS   Thomas PM, Cote GJ, Hallman DM and Mathew PM.
  TITLE     Homozygosity mapping, to chromosome 11p, of the gene for familial
            persistent hyperinsulinemic hypoglycemia of infancy
  JOURNAL   Am J Hum Genet 56 (2), 416-421 (1995)
   PUBMED   7847376
REFERENCE   8  (residues 1 to 303)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29792621
REFERENCE   9  (residues 1 to 303)
  AUTHORS   De Leon,D.D. and Stanley,C.A.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301620
REFERENCE   10 (residues 1 to 303)
  AUTHORS   Gillis,D.
  TITLE     Familial Hyperinsulinism
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301549
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124798.5, AK301550.1 and
            AI377272.1.
            
            Summary: Potassium channels are present in most mammalian cells,
            where they participate in a wide range of physiologic responses.
            The protein encoded by this gene is an integral membrane protein
            and inward-rectifier type potassium channel. The encoded protein,
            which has a greater tendency to allow potassium to flow into a cell
            rather than out of a cell, is controlled by G-proteins and is found
            associated with the sulfonylurea receptor SUR. Mutations in this
            gene are a cause of familial persistent hyperinsulinemic
            hypoglycemia of infancy (PHHI), an autosomal recessive disorder
            characterized by unregulated insulin secretion. Defects in this
            gene may also contribute to autosomal dominant
            non-insulin-dependent diabetes mellitus type II (NIDDM), transient
            neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal
            diabetes mellitus (PNDM). Multiple alternatively spliced transcript
            variants that encode different protein isoforms have been described
            for this gene. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (2) uses a different segment for
            its 5' UTR and lacks 5' coding region sequence, compared to variant
            1. Variant 2 uses a downstream start codon, which results in a
            protein (isoform 2) with a shorter N-terminus when it is compared
            to isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC040617.1, AK301550.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154361 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..303
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     Protein         1..303
                     /product="ATP-sensitive inward rectifier potassium channel
                     11 isoform 2"
                     /note="beta-cell inward rectifier subunit; ATP-sensitive
                     inward rectifier potassium channel 11; inwardly rectifying
                     potassium channel KIR6.2; potassium channel inwardly
                     rectifing subfamily J member 11; inward rectifier K(+)
                     channel Kir6.2; potassium channel, inwardly rectifying
                     subfamily J member 11; inwardly-rectifying potassium
                     channel subfamily J member 11; inwardly rectifing
                     potassium channel subfamily J member 11; potassium
                     voltage-gated channel subfamily J member 11"
                     /calculated_mol_wt=33118
     Region          <1..87
                     /region_name="Ion_trans_2"
                     /note="Ion channel; cl21560"
                     /db_xref="CDD:451311"
     Region          94..264
                     /region_name="IRK_C"
                     /note="Inward rectifier potassium channel C-terminal
                     domain; pfam17655"
                     /db_xref="CDD:435949"
     CDS             1..303
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /coded_by="NM_001166290.2:190..1101"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS53606.1"
                     /db_xref="GeneID:3767"
                     /db_xref="HGNC:HGNC:6257"
                     /db_xref="MIM:600937"
ORIGIN      
        1 mawwliafah gdlapsegta epcvtsihsf ssaflfsiev qvtigfggrm vteecplail
       61 ilivqnivgl minaimlgci fmktaqahrr aetlifskha vialrhgrlc fmlrvgdlrk
      121 smiisatihm qvvrkttspe gevvplhqvd ipmengvggn siflvaplii yhvidanspl
      181 ydlapsdlhh hqdleiivil egvvettgit tqartsylad eilwgqrfvp ivaeedgrys
      241 vdyskfgntv kvptplctar qldedhslle altlasargp lrkrsvpmak akpkfsispd
      301 sls
//
LOCUS       NP_963918                911 aa            linear   PRI 19-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 33 isoform 2 [Homo sapiens].
ACCESSION   NP_963918
VERSION     NP_963918.1
DBSOURCE    REFSEQ: accession NM_201624.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 911)
  AUTHORS   Han PP, Zhang GQ, Li L and Yue L.
  TITLE     Downregulation of USP33 inhibits Slit/Robo signaling pathway and is
            associated with poor patient survival of glioma
  JOURNAL   J Neurosurg Sci 67 (1), 113-120 (2023)
   PUBMED   32972109
  REMARK    GeneRIF: Downregulation of USP33 inhibits Slit/Robo signaling
            pathway and is associated with poor patient survival of glioma.
REFERENCE   2  (residues 1 to 911)
  AUTHORS   Zhang A, Huang Z, Tao W, Zhai K, Wu Q, Rich JN, Zhou W and Bao S.
  TITLE     USP33 deubiquitinates and stabilizes HIF-2alpha to promote hypoxia
            response in glioma stem cells
  JOURNAL   EMBO J 41 (7), e109187 (2022)
   PUBMED   35191554
  REMARK    GeneRIF: USP33 deubiquitinates and stabilizes HIF-2alpha to promote
            hypoxia response in glioma stem cells.
REFERENCE   3  (residues 1 to 911)
  AUTHORS   Wang H, Liu Z, Sun Z, Zhou D, Mao H and Deng G.
  TITLE     Ubiquitin specific peptidase 33 promotes cell proliferation and
            reduces apoptosis through regulation of the SP1/PI3K/AKT pathway in
            retinoblastoma
  JOURNAL   Cell Cycle 20 (19), 2066-2076 (2021)
   PUBMED   34470581
  REMARK    GeneRIF: Ubiquitin specific peptidase 33 promotes cell
            proliferation and reduces apoptosis through regulation of the
            SP1/PI3K/AKT pathway in retinoblastoma.
REFERENCE   4  (residues 1 to 911)
  AUTHORS   Culver JA and Mariappan M.
  TITLE     Deubiquitinases USP20/33 promote the biogenesis of tail-anchored
            membrane proteins
  JOURNAL   J Cell Biol 220 (5) (2021)
   PUBMED   33792613
  REMARK    GeneRIF: Deubiquitinases USP20/33 promote the biogenesis of
            tail-anchored membrane proteins.
REFERENCE   5  (residues 1 to 911)
  AUTHORS   Mishra R and Banerjea AC.
  TITLE     SARS-CoV-2 Spike Targets USP33-IRF9 Axis via Exosomal miR-148a to
            Activate Human Microglia
  JOURNAL   Front Immunol 12, 656700 (2021)
   PUBMED   33936086
  REMARK    GeneRIF: SARS-CoV-2 Spike Targets USP33-IRF9 Axis via Exosomal
            miR-148a to Activate Human Microglia.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 911)
  AUTHORS   Thorne C, Eccles RL, Coulson JM, Urbe S and Clague MJ.
  TITLE     Isoform-specific localization of the deubiquitinase USP33 to the
            Golgi apparatus
  JOURNAL   Traffic 12 (11), 1563-1574 (2011)
   PUBMED   21801292
REFERENCE   7  (residues 1 to 911)
  AUTHORS   Curcio-Morelli C, Zavacki AM, Christofollete M, Gereben B, de
            Freitas BC, Harney JW, Li Z, Wu G and Bianco AC.
  TITLE     Deubiquitination of type 2 iodothyronine deiodinase by von
            Hippel-Lindau protein-interacting deubiquitinating enzymes
            regulates thyroid hormone activation
  JOURNAL   J Clin Invest 112 (2), 189-196 (2003)
   PUBMED   12865408
  REMARK    GeneRIF: VDU1 has a role in amplifying the increase in type 2
            iodothyronine deiodinase activity that results from
            catecholamine-stimulated de novo synthesis
REFERENCE   8  (residues 1 to 911)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
REFERENCE   9  (residues 1 to 911)
  AUTHORS   Li Z, Wang D, Na X, Schoen SR, Messing EM and Wu G.
  TITLE     Identification of a deubiquitinating enzyme subfamily as substrates
            of the von Hippel-Lindau tumor suppressor
  JOURNAL   Biochem Biophys Res Commun 294 (3), 700-709 (2002)
   PUBMED   12056827
REFERENCE   10 (residues 1 to 911)
  AUTHORS   Li Z, Na X, Wang D, Schoen SR, Messing EM and Wu G.
  TITLE     Ubiquitination of a novel deubiquitinating enzyme requires direct
            binding to von Hippel-Lindau tumor suppressor protein
  JOURNAL   J Biol Chem 277 (7), 4656-4662 (2002)
   PUBMED   11739384
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF383173.1, BC016663.1 and
            AI569971.1.
            
            Summary: This gene encodes a deubiquinating enzyme important in a
            variety of processes, including Slit-dependent cell migration and
            beta-2 adrenergic receptor signaling. The protein is negatively
            regulated through ubiquitination by von Hippel-Lindau tumor protein
            (VHL). Alternative splicing results in multiple transcript variants
            and protein isoforms. [provided by RefSeq, Jun 2012].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region and uses a downstream start codon
            compared to variant 1. The encoded isoform (2) has a shorter
            N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF383173.1, AB029020.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370794.7/ ENSP00000359830.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..911
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     Protein         1..911
                     /product="ubiquitin carboxyl-terminal hydrolase 33 isoform
                     2"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin carboxyl-terminal hydrolase 33;
                     pVHL-interacting deubiquitinating enzyme 1; ubiquitin
                     thioesterase 33; deubiquitinating enzyme 33;
                     VHL-interacting deubiquitinating enzyme 1;
                     ubiquitin-specific-processing protease 33; ubiquitin
                     thiolesterase 33"
                     /calculated_mol_wt=103152
     Region          <8..>254
                     /region_name="UBP14"
                     /note="Uncharacterized Zn-finger protein, UBP-type
                     [General function prediction only]; COG5207"
                     /db_xref="CDD:227532"
     Region          154..681
                     /region_name="UCH"
                     /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443"
                     /db_xref="CDD:425685"
     Region          703..772
                     /region_name="DUSP"
                     /note="DUSP domain; cl12116"
                     /db_xref="CDD:416436"
     Region          809..893
                     /region_name="DUSP"
                     /note="Domain in ubiquitin-specific proteases; smart00695"
                     /db_xref="CDD:197831"
     CDS             1..911
                     /gene="USP33"
                     /gene_synonym="VDU1"
                     /coded_by="NM_201624.3:262..2997"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS679.1"
                     /db_xref="GeneID:23032"
                     /db_xref="HGNC:HGNC:20059"
                     /db_xref="MIM:615146"
ORIGIN      
        1 msafrnhcph ldsvgeitke dliqkslgtc qdckvqgpnl waclenrcsy vgcgesqvdh
       61 stihsqetkh yltvnlttlr vwcyacskev fldrklgtqp slphvrqphq iqensvqdfk
      121 ipsnttlktp lvavfddldi eadeedelra rgltglknig ntcymnaalq alsncppltq
      181 ffldcgglar tdkkpaicks ylklmtelwh ksrpgsvvpt tlfqgiktvn ptfrgysqqd
      241 aqeflrclmd llheelkeqv meveedpqti tteetmeedk sqsdvdfqsc escsnsdrae
      301 nengsrcfse dnnettmliq ddennsemsk dwqkekmcnk inkvnsegef dkdrdsiset
      361 vdlnnqetvk vqihsrasey itdvhsndls tpqilpsneg vnprlsaspp ksgnlwpgla
      421 pphkkaqsas pkrkkqhkky rsvisdifdg tiissvqclt cdrvsvtlet fqdlslpipg
      481 kedlaklhss shptsivkag scgeayapqg wiaffmeyvk rfvvscvpsw fwgpvvtlqd
      541 claaffarde lkgdnmysce kckklrngvk fckvqnfpei lcihlkrfrh elmfstkist
      601 hvsfplegld lqpflakdsp aqivtydlls vichhgtass ghyiaycrnn lnnlwyefdd
      661 qsvtevsest vqnaeayvlf yrksseeaqk errrisnlln imepsllqfy isrqwlnkfk
      721 tfaepgpisn ndflcihggv pprkagyied lvlmlpqniw dnlysryggg pavnhlyich
      781 tcqieaekie krrkteleif irlnrafqke dspatfycis mqwfrewesf vkgkdgdppg
      841 pidntkiavt kcgnvmlrqg adsgqiseet wnflqsiygg gpevilrppv vhvdpdilqa
      901 eekievetrs l
//
LOCUS       XP_006710512             575 aa            linear   PRI 20-MAR-2023
DEFINITION  eyes absent homolog 3 isoform X3 [Homo sapiens].
ACCESSION   XP_006710512
VERSION     XP_006710512.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006710449.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..575
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..575
                     /product="eyes absent homolog 3 isoform X3"
                     /calculated_mol_wt=62816
     Region          304..575
                     /region_name="EYA-cons_domain"
                     /note="eyes absent protein conserved domain; TIGR01658"
                     /db_xref="CDD:273739"
     CDS             1..575
                     /gene="EYA3"
                     /coded_by="XM_006710449.4:156..1883"
                     /db_xref="GeneID:2140"
                     /db_xref="HGNC:HGNC:3521"
                     /db_xref="MIM:601655"
ORIGIN      
        1 meeeqdlpeq prkvkkakmq esgeqtisqv snpdvsdqkp etsslasnlp mseeimtctd
       61 yiprssndyt sqmysakpya hilsvpvset aypgqtqyqt lqqtqpyavy pqatqtyglp
      121 pfgalwpgmk pesgliqtps psqhsvltct tglttsqpsp ahysypiqas stnaslists
      181 stianipaaa vasisnqdyp tytilgqnqy qacypsssfg vtgqtnsdae sttlaattyq
      241 sekpsvmapa paaqrlssgd pstspslsqt tpskdtddqs rknmtsknrg krkadatssq
      301 dselervflw dldetiiifh slltgsyaqk ygkdptvvig sgltmeemif evadthlffn
      361 dleecdqvhv edvasddngq dlsnysfstd gfsgsggsgs hgssvgvqgg vdwmrklafr
      421 yrkvreiydk hksnvgglls pqrkealqrl raeievltds wlgtalksll liqsrkncvn
      481 vlitttqlvp alakvllygl geifpieniy satkigkesc ferivsrfgk kvtyvvigdg
      541 rdeeiaakqh nmpfwritnh gdlvslhqal eldfl
//
LOCUS       XP_005273182             573 aa            linear   PRI 20-MAR-2023
DEFINITION  delta(14)-sterol reductase LBR isoform X2 [Homo sapiens].
ACCESSION   XP_005273182
VERSION     XP_005273182.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005273125.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..573
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..573
                     /product="delta(14)-sterol reductase LBR isoform X2"
                     /calculated_mol_wt=65817
     Region          1..55
                     /region_name="LBR_tudor"
                     /note="Lamin-B receptor of TUDOR domain; pfam09465"
                     /db_xref="CDD:430629"
     Site            order(16,21,23,41,43,45)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410452"
     Region          205..573
                     /region_name="PEMT"
                     /note="Phospholipid methyltransferase; cl21511"
                     /db_xref="CDD:451282"
     CDS             1..573
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /coded_by="XM_005273125.4:100..1821"
                     /db_xref="GeneID:3930"
                     /db_xref="HGNC:HGNC:6518"
                     /db_xref="MIM:600024"
ORIGIN      
        1 mpsrkfadge vvrgrwpgss lyyeveilsh dstsqlytvk ykdgtelelk endikpltsf
       61 rqrkggstss spsrrrgsrs rsrsrspgrp pksarrsasa shqadikear revevkltpl
      121 ilkpfgnsis ryngepehie rndaphkntq ekfslsqess yiatqyslrp rreevklkei
      181 dskeekyvak elavrtfevt pirakdlefg gvpgvflimf glpvflflll lmckqkdpsl
      241 lnfppplpal yelwetrvfg vyllwfliqv lfyllpigkv vegtplidgr rlkyrlngfy
      301 afiltsavig tslfqgvefh yvyshflqfa laatvfcvvl svylymrslk aprndlspas
      361 sgnavydffi grelnprigt fdlkyfcelr pgligweall ttmdiihdgf gfmlafgdlv
      421 wvpfiysfqa fylvshpnev swpmasliiv lklcgyvifr gansqknafr knpsdpklah
      481 lktihtstgk nllvsgwwgf vrhpnylgdl imalawslpc gfnhilpyfy iiyftmllvh
      541 reardeyhck kkygvaweky cqrvpyrifp yiy
//
LOCUS       XP_047277332             458 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear transcription factor Y subunit gamma isoform X13 [Homo
            sapiens].
ACCESSION   XP_047277332
VERSION     XP_047277332.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421376.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 16% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..458
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..458
                     /product="nuclear transcription factor Y subunit gamma
                     isoform X13"
                     /calculated_mol_wt=50171
     Region          <17..>123
                     /region_name="HAP5"
                     /note="CCAAT-binding factor, subunit C [Transcription];
                     COG5208"
                     /db_xref="CDD:227533"
     CDS             1..458
                     /gene="NFYC"
                     /gene_synonym="CBF-C; CBFC; H1TF2A; HAP5; HSM; NF-YC"
                     /coded_by="XM_047421376.1:431..1807"
                     /db_xref="GeneID:4802"
                     /db_xref="HGNC:HGNC:7806"
                     /db_xref="MIM:605344"
ORIGIN      
        1 msteggfggt sssdaqqslq sfwprvmeei rnltvkdfrv qelplarikk imkldedvkm
       61 isaeapvlfa kaaqifitel tlrawihted nkrrtlqrnd iamaitkfdq fdflidivpr
      121 delkppkrqe evrqsvtpae pvqyyftlaq qptavqvqgq qqgqqttsst ttiqpgqiii
      181 aqpqqgqttp vtmqvgegqq vqivqaqpqg qaqqaqsgtg qtmqvmqqii tntgeiqqip
      241 vqlnagqlqy irlaqpvsgt qvvqgqiqtl atnaqqgqrn asqgkprrcl ketlqitqte
      301 vqqgqqqfsq ftdgqrnsvq qarvseltge aeprevkatg nstpctsslp tthppshrag
      361 ascvccsqpq qsstspppsd alqwvvvevs gtpnqlethr elhaplpgmt slsplhpsqq
      421 lyqiqqvtmp agqdlaqpmf iqsanqpsdg qapqvtgd
//
LOCUS       XP_011507973             515 aa            linear   PRI 20-MAR-2023
DEFINITION  protoporphyrinogen oxidase isoform X9 [Homo sapiens].
ACCESSION   XP_011507973
VERSION     XP_011507973.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011509671.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..515
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..515
                     /product="protoporphyrinogen oxidase isoform X9"
                     /calculated_mol_wt=54633
     Region          41..509
                     /region_name="proto_IX_ox"
                     /note="protoporphyrinogen oxidase; TIGR00562"
                     /db_xref="CDD:213540"
     CDS             1..515
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP"
                     /coded_by="XM_011509671.2:203..1750"
                     /db_xref="GeneID:5498"
                     /db_xref="HGNC:HGNC:9280"
                     /db_xref="MIM:600923"
ORIGIN      
        1 meppprglal svpiyspydq sscglpsrvv tlagpgfrmg rtvvvlgggi sglaasyhls
       61 rapcppkvvl vesserlggw irsvrgpnga ifelgprgir pagalgartl llvselglds
      121 evlpvrgdhp aaqnrflyvg galhalptgl rgllrpsppf skplfwaglr eltkprgkep
      181 detvhsfaqr rlgpevasla mdslcrgvfa gnsrelsirs cfpslfqaeq thrsillgll
      241 lgagrtpqpd salirqalae rwsqwslrgg lemlpqalet hltsrgvsvl rgqpvcglsl
      301 qaegrwkvsl rdssleadhv isaipasvls ellpaeaapl aralsaitav svavvnlqyq
      361 gahlpvqgfg hlvpssedpg vlgivydsva fpeqdgsppg lrvtvmlggs wlqtleasgc
      421 vlsqelfqqr aqeaaatqlg lkempshclv hlhkncipqy tlghwqkles arqfltahrl
      481 pltlagasye gvavndcies grqaavsvlg tepns
//
LOCUS       XP_011540065             384 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing protein 40 isoform X2 [Homo
            sapiens].
ACCESSION   XP_011540065
VERSION     XP_011540065.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011541763.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 9% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..384
                     /product="leucine-rich repeat-containing protein 40
                     isoform X2"
                     /calculated_mol_wt=43775
     Region          1..>359
                     /region_name="PLN00113"
                     /note="leucine-rich repeat receptor-like protein kinase;
                     Provisional"
                     /db_xref="CDD:215061"
     Region          4..26
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          27..48
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          49..72
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          73..95
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          96..117
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          118..141
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          183..206
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          229..255
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          256..278
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          302..325
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          326..348
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          349..360
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     CDS             1..384
                     /gene="LRRC40"
                     /gene_synonym="dJ677H15.1"
                     /coded_by="XM_011541763.2:438..1592"
                     /db_xref="GeneID:55631"
                     /db_xref="HGNC:HGNC:26004"
ORIGIN      
        1 mkrlkhldcn snlletippe lagmeslell ylrrnklrfl pefpscsllk elhvgenqie
       61 mleaehlkhl nsilvldlrd nklksvpdei illrslerld lsnndisslp yslgnlhlkf
      121 lalegnplrt irreiiskgt qevlkylrsk ikddgpsqse satetamtlp sesrvnihai
      181 itlkildysd kqatlipdev fdavksnivt sinfsknqlc eipkrmvelk emvsdvdlsf
      241 nklsfislel cvlqkltfld lrnnflnslp eemeslvrlq tinlsfnrfk mlpevlyrif
      301 tletilisnn qvgsvdpqkm kmmenlttld lqnndllqip pelgncvnlr tllldgnpfr
      361 vpraailmkg taaileylrd ript
//
LOCUS       XP_047285935            2435 aa            linear   PRI 20-MAR-2023
DEFINITION  voltage-dependent R-type calcium channel subunit alpha-1E isoform
            X7 [Homo sapiens].
ACCESSION   XP_047285935
VERSION     XP_047285935.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429979.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2435
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..2435
                     /product="voltage-dependent R-type calcium channel subunit
                     alpha-1E isoform X7"
                     /calculated_mol_wt=274735
     Region          233..507
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          620..859
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1279..1509
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1599..1856
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1865..1918
                     /region_name="GPHH"
                     /note="Voltage-dependent L-type calcium channel,
                     IQ-associated; pfam16905"
                     /db_xref="CDD:435642"
     Region          1928..2004
                     /region_name="Ca_chan_IQ"
                     /note="Voltage gated calcium channel IQ domain; pfam08763"
                     /db_xref="CDD:430200"
     Region          2100..>2322
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     CDS             1..2435
                     /gene="CACNA1E"
                     /gene_synonym="BII; CACH6; CACNL1A6; Cav2.3; DEE69;
                     EIEE69; gm139"
                     /coded_by="XM_047429979.1:440..7747"
                     /db_xref="GeneID:777"
                     /db_xref="HGNC:HGNC:1392"
                     /db_xref="MIM:601013"
ORIGIN      
        1 mvpemrglsp drrlpepapc paagspeprs agrrqrhvla lpeeeawrpq qcalleadas
       61 devgmlpasp raasgfdnff qvqegegqgw egamaleags spflpvspev mkrrrgglie
      121 qrdiikahea hkmqstpqar rkewemarfg eavvarpgsg dgdsdqsrnr qgtpvpasgq
      181 aaaykqtkaq rartmalynp ipvrqncftv nrslfifged nivrkyakkl idwppfeymi
      241 latiianciv laleqhlped dktpmsrrle ktepyfigif cfeagikiva lgfifhkgsy
      301 lrngwnvmdf ivvlsgilat agthfnthvd lrtlravrvl rplklvsgip slqivlksim
      361 kamvpllqig lllffailmf aiiglefysg klhracfmnn sgilegfdpp hpcgvqgcpa
      421 gyeckdwigp ndgitqfdni lfavltvfqc itmegwttvl yntndalgat wnwlyfipli
      481 iigsffvlnl vlgvlsgefa kerervenrr afmklrrqqq ierelngyra widkaeevml
      541 aeenknagts alevlrrati krsrteamtr dssdehcvdi ssvgtplara siksakvdgv
      601 syfrhkerll risirhmvks qvfywivlsl valntacvai vhhnqpqwlt hllyyaeflf
      661 lglfllemsl kmygmgprly fhssfncfdf gvtvgsifev vwaifrpgts fgisvlralr
      721 llrifkitky waslrnlvvs lmssmksiis llfllflfiv vfallgmqlf ggrfnfndgt
      781 psanfdtfpa aimtvfqilt gedwnevmyn girsqggvss gmwsaiyfiv ltlfgnytll
      841 nvflaiavdn lanaqeltkd eqeeeeafnq khalqkakev spmsapnmps iererrrrhh
      901 msvweqrtsq lrkhmqmssq ealnreeapt mnplnplnpl sslnplnahp slyrrpraie
      961 glalglalek feeerisrgg slkgdggdrs saldnqrtpl slgqreppwl arpchgncdp
     1021 tqqeagggea vvtfedrarh rqsqrrsrhr rvrtegkess sasrsrsasq ersldeampt
     1081 egekdhelrg nhgakeptiq eeraqdlrrt nslmvsrgsg laggldeadt plvlphpele
     1141 vgkhvvlteq epegsseqal lgnvqldmgr visqsepdls citantdkat testsvtvai
     1201 pdvdplvdst vvhisnktdg easplkeaei redeeevekk kqkkekretg kamvphssmf
     1261 ifsttnpirr achyivnlry femcillvia assialaaed pvltnsernk vlryfdyvft
     1321 gvftfemvik midqglilqd gsyfrdlwni ldfvvvvgal vafalatnkg rdiktikslr
     1381 vlrvlrplkt ikrlpklkav fdcvvtslkn vfnilivykl fmfifaviav qlfkgkffyc
     1441 tdsskdteke cignyvdhek nkmevkgrew krhefhydni iwalltlftv stgegwpqvl
     1501 qhsvdvteed rgpsrsnrme msifyvvyfv vfpfffvnif valiiitfqe qgdkmmeecs
     1561 lekneracid faisakpltr ympqnrhtfq yrvwhfvvsp sfeytimami alntvvlmmk
     1621 yysapctyel alkylniaft mvfslecvlk viafgflnyf rdtwnifdfi tvigsiteii
     1681 ltdsklvnts gfnmsflklf raarlikllr qgytirillw tfvqsfkalp yvclliamlf
     1741 fiyaiigmqv fgnikldees hinrhnnfrs ffgslmllfr satgeawqei mlsclgekgc
     1801 epdttapsgq nenercgtdl ayvyfvsfif fcsflmlnlf vavimdnfey ltrdssilgp
     1861 hhldefvrvw aeydraacgr ihytemyeml tlmspplglg krcpskvayk rlvlmnmpva
     1921 edmtvhftst lmalirtald ikiakggadr qqldselqke tlaiwphlsq kmldllvpmp
     1981 kasdltvgki yaammimdyy kqskvkkqrq qleeqknapm fqrmepsslp qeiianakal
     2041 pylqqdpvsg lsgrsgypsm splspqdifq lacmdpaddg qfqerqslep evselksvqp
     2101 snhgiylpsd tqehagsgra ssmprltvdp qvvtdpssmr rsfstirdkr snsswleefs
     2161 merssentyk srrrsyhssl rlsahrlnsd sghksdthrs ggrergrske rkhllspdvs
     2221 rcnseergtq adwesperrq srspsegrsq tpnrqgtgsl sessipsvsd tstprrsrrq
     2281 lppvppkprp llsysslirh agsisppadg seegspltsq alesnnaclt essnsphpqq
     2341 sqhaspqryi sepylalhed shasdcgeee tltfeaavat slgrsntigs applrhswqm
     2401 pnghyrrrrr ggpgpgmmcg avnnllsdte eddkc
//
LOCUS       XP_047288452             271 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C1orf198 isoform X2 [Homo sapiens].
ACCESSION   XP_047288452
VERSION     XP_047288452.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432496.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..271
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..271
                     /product="uncharacterized protein C1orf198 isoform X2"
                     /calculated_mol_wt=30355
     Region          <56..75
                     /region_name="DUF4706"
                     /note="Domain of unknown function (DUF4706); pfam15797"
                     /db_xref="CDD:434945"
     CDS             1..271
                     /gene="C1orf198"
                     /coded_by="XM_047432496.1:50..865"
                     /db_xref="GeneID:84886"
                     /db_xref="HGNC:HGNC:25900"
ORIGIN      
        1 mlvfvfvflf yewtqfspes latwrygghy relttatlse rrartqghag yhlsrdltwq
       61 dehsapfswe tksqmefsis alsiqepsng taaseprpls kasqgsqalk ssqgsrsssl
      121 dalgptrkee easfwkinae rsrgegpeae fqsltpsqik smekgekvlp pcyrqepapk
      181 dreakverps tlrqeqrplp nvstererpq pvqafssalh eaapsqlegk lpspdvrqdd
      241 gedtlfsepk faqvsssnvv lktgfdfldn w
//
LOCUS       XP_011517652             682 aa            linear   PRI 20-MAR-2023
DEFINITION  armadillo repeat-containing protein 3 isoform X4 [Homo sapiens].
ACCESSION   XP_011517652
VERSION     XP_011517652.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011519350.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..682
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..682
                     /product="armadillo repeat-containing protein 3 isoform
                     X4"
                     /calculated_mol_wt=74615
     Region          21..52
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          <24..265
                     /region_name="SRP1"
                     /note="Karyopherin (importin) alpha [Intracellular
                     trafficking and secretion]; COG5064"
                     /db_xref="CDD:227396"
     Site            order(43,47,51,85,89,93,168,172,176)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          60..96
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          106..137
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          143..177
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          184..220
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          <203..>542
                     /region_name="PLN03200"
                     /note="cellulose synthase-interactive protein;
                     Provisional"
                     /db_xref="CDD:215629"
     Region          225..259
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          358..383
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Site            order(374,378,382,416,420,424,498,502)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          391..436
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          435..465
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          473..503
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     CDS             1..682
                     /gene="ARMC3"
                     /gene_synonym="CT81; KU-CT-1"
                     /coded_by="XM_011519350.4:56..2104"
                     /db_xref="GeneID:219681"
                     /db_xref="HGNC:HGNC:30964"
                     /db_xref="MIM:611226"
ORIGIN      
        1 mgkkikkeve pppkdvfdpl mieskkaatv vlmlnspeee ilakaceaiy kfalkgeenk
       61 ttllelgave pltkllthed kivrrnatmi fgilasnndv kkllreldvm nsviaqlape
      121 eevvihefas lclanmsaey tskvqifehg gleplirlls spdpdvkkns meciynlvqd
      181 fqcraklqel naippildll kseypviqll alktlgvian dkesrtmlrd nqgldhliki
      241 letkelndlh iealavianc ledmdtmvqi qqtgglkkll sfaenstipd iqknaakait
      301 kaaydpenrk lfheqevekc lvallgsend gtkiaasqai samcensgsk dffnnqgipq
      361 liqllksdne evreaaalal anlttcnpan anaaaeadgi dplinllssk rdgaianaat
      421 vltnmamqep lrlniqnhdi mhaiisplrs antvvqskaa lavtatacdv eartelrnsg
      481 gleplvellr skndevrkha swavmvcagd eltanelcrl galdileevn vsgtrknkfs
      541 eaaynkllnn nlslkysqtg ylsssniind gfydygrinp gtkllplkel clqepsdlra
      601 vllinsksyv sppssmedks dvgygrsiss ssslrrsske knkknsyhfs agfgspiedk
      661 sepasgrntv lsksatkekg wr
//
LOCUS       XP_011540914             250 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM76B isoform X3 [Homo sapiens].
ACCESSION   XP_011540914
VERSION     XP_011540914.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011542612.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..250
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..250
                     /product="protein FAM76B isoform X3"
                     /calculated_mol_wt=28505
     Region          <113..239
                     /region_name="FAM76"
                     /note="FAM76 protein; pfam16046"
                     /db_xref="CDD:435098"
     CDS             1..250
                     /gene="FAM76B"
                     /coded_by="XM_011542612.2:83..835"
                     /db_xref="GeneID:143684"
                     /db_xref="HGNC:HGNC:28492"
ORIGIN      
        1 mdhlrpvnsa nsnvlligrr keeerlmesy yagsvlyrtk efyrrrknkg rawdlhiqih
       61 llhlllrkts iiqniittii titivtavai tnvicvffri snlspeeeqg lwkqshkssa
      121 tiqnetpkkk pkleskpsng dsssinqsad sggtdnfvli sqlkeevmsl krllqqrdqt
      181 ilekdkklte lkadfqyqes nlrtkmnsme kahketveql qaknrellkq vaalskgkkf
      241 dksgsiltsp
//
LOCUS       XP_047282596            1319 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology-like domain family B member 1 isoform X32 [Homo
            sapiens].
ACCESSION   XP_047282596
VERSION     XP_047282596.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426640.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1319
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1319
                     /product="pleckstrin homology-like domain family B member
                     1 isoform X32"
                     /calculated_mol_wt=144609
     Region          24..142
                     /region_name="FHA_PHLB1"
                     /note="forkhead associated (FHA) domain found in
                     pleckstrin homology-like domain family B member 1 (PHLDB1)
                     and similar proteins; cd22713"
                     /db_xref="CDD:438765"
     Region          152..>546
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          673..>894
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          <677..>1189
                     /region_name="SMC_N"
                     /note="RecF/RecN/SMC N terminal domain; pfam02463"
                     /db_xref="CDD:426784"
     Region          1208..1312
                     /region_name="PH_PHLDB1_2"
                     /note="Pleckstrin homology-like domain-containing family B
                     member 2 pleckstrin homology (PH) domain; cd14673"
                     /db_xref="CDD:270192"
     CDS             1..1319
                     /gene="PHLDB1"
                     /gene_synonym="LL5A; LL5alpha"
                     /coded_by="XM_047426640.1:418..4377"
                     /db_xref="GeneID:23187"
                     /db_xref="HGNC:HGNC:23697"
                     /db_xref="MIM:612834"
ORIGIN      
        1 mdalnrnqig pgcqtqtmvq kgpldlietg kglkvqtdkp hlvslgsgrl staitllple
       61 egrtvigsaa rdislqgpgl apehcyienl rgtltlypcg nactidglpv rqptrltqgc
      121 mlclgqstfl rfnhpaeakw mksmipaggr apgppyspvp aeseslvngn htpqtatrgp
      181 sacashsslv ssiekdlqei mdslvleepg aagkkpaats plspmanggr yllspptspg
      241 amsvgssyen tspafsplss passgscash spsgqepgps vpplvparss syhlalqppq
      301 srpsgarses prlsrkgghe rppspglrgl ltdspaatvl aearratesp rlggqlpvva
      361 islseypasg alsqptsipg spkfqppvpa prnkigtlqd rppspfrepp gservlttsp
      421 srqlvgrtfs dglatrtlqp pesprlgrrg ldsmrelppl spslsrrals plptrttpdp
      481 klnrevaesp rprrwaahga spedfsltlg argrrtrsps ptlgeslaph kgsfsgrlsp
      541 ayslgsltga spcqspcvqr klssgdlrvp vtrerknsit eisdneddll eyhrrqrqer
      601 lreqemerle rqrletilnl caeysradgg peagelpsig eataalalag rrpsrglaga
      661 sgrsseepgv atqrlwesme rsdeenlkee csstestqqe hedapstklq gevlaleeer
      721 aqvlghveql kvrvkeleqq lqesareaem erallqgere aerallqkeq kavdqlqekl
      781 valetgiqke rdkeaealet etklfedlef qqleresrve eerelagqgl lrskaellrs
      841 iakrkerlai ldsqagqira qavqeserla rdknaslqll qkekekltvl erryhsltgg
      901 rpfpkttstl kevyrskmdg eatsplprtr sgplpsssgs sssssqlsva tlgrspspks
      961 alltqngtgs lprnlaatlq dietkrqlal qqkgqqviee qrrrlaelkq kaaaeaqcqw
     1021 dalhgaapfp agpsgfpplm hhsilhhlpa grergeegeh aydtlsless dsmetsistg
     1081 gnsacspdnm ssasgldmgk ieemekmlke ahaeknrlme sreremelrr qaleeerrrr
     1141 eqverrlqse sarrqqlvek evkmrekqfs qarpltrylp irkedfdlkt hiessghgvd
     1201 tclhvvlssk vcrgylvkmg gkikswkkrw fvfdrlkrtl syyvdkhetk lkgviyfqai
     1261 eevyydhlrs aakspnpalt fcvkthdrly ymvapsaeam riwmdvivtg aegytqfmn
//
LOCUS       XP_047282992             387 aa            linear   PRI 20-MAR-2023
DEFINITION  P2Y purinoceptor 6 isoform X2 [Homo sapiens].
ACCESSION   XP_047282992
VERSION     XP_047282992.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427036.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..387
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..387
                     /product="P2Y purinoceptor 6 isoform X2"
                     /calculated_mol_wt=43273
     Region          86..371
                     /region_name="7tmA_P2Y6"
                     /note="P2Y purinoceptor 6, member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15379"
                     /db_xref="CDD:320501"
     Region          86..113
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320501"
     Region          120..145
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320501"
     Site            order(141,144..145,158..163,165..166,169,215,217..221,235,
                     237..239,248,251..253,255..257,259..260,311,314..315,
                     317..318,321,338..339,341..343,346,349..350)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320501"
     Region          158..188
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320501"
     Region          201..223
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320501"
     Region          248..277
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320501"
     Region          291..321
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320501"
     Region          339..364
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320501"
     CDS             1..387
                     /gene="P2RY6"
                     /gene_synonym="P2Y6"
                     /coded_by="XM_047427036.1:247..1410"
                     /db_xref="GeneID:5031"
                     /db_xref="HGNC:HGNC:8543"
                     /db_xref="MIM:602451"
ORIGIN      
        1 mtlliyfcqn iardsfrhrt dwqqgllhew efapalhglq arhlltlglp ehrkptwaam
       61 ewdngtgqal glppttcvyr enfkqlllpp vysavlaagl plnicvitqi ctsrraltrt
      121 avytlnlala dllyacslpl liynyaqgdh wpfgdfacrl vrflfyanlh gsilfltcis
      181 fqrylgichp lapwhkrggr raawlvcvav wlavttqclp taifaatgiq rnrtvcydls
      241 ppalathymp ygmaltvigf llpfaallac ycllacrlcr qdgpaepvaq errgkaarma
      301 vvvaaafais flpfhitkta ylavrstpgv pctvleafaa aykgtrpfas ansvldpilf
      361 yftqkkfrrr phellqklta kwqrqgr
//
LOCUS       XP_047283798             334 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Atg16l2 isoform X8 [Homo sapiens].
ACCESSION   XP_047283798
VERSION     XP_047283798.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427842.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..334
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..334
                     /product="protein Atg16l2 isoform X8"
                     /calculated_mol_wt=36659
     Region          46..93
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          64..334
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(68,72,78..79,93..94,112,116,122..123,135..136,153,
                     158,164..165,177,192,197,203..204,216,234,238,244..245,
                     257..258,279,284,290..291,303,305,323,327,333..334)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          99..135
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          140..176
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          182..214
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          220..258
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          266..302
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..334
                     /gene="ATG16L2"
                     /gene_synonym="ATG16B; WDR80"
                     /coded_by="XM_047427842.1:1842..2846"
                     /db_xref="GeneID:89849"
                     /db_xref="HGNC:HGNC:25464"
                     /db_xref="MIM:618716"
ORIGIN      
        1 mpqgswrlpp ekdllnallt pthltpvlrr gevtqlgepl ssdtrsslcv wlpdflpglr
       61 mccsllatgg adrlihlwnv vgsrleanqt legaggsits vdfdpsgyqv laatynqaaq
      121 lwkvgeaqsk etlsghkdkv taakfkltrh qavtgsrdrt vkewdlgray csrtinvlsy
      181 cndvvcgdhi iisghndqki rfwdsrgphc tqvipvqgrv tslslshdql hllscsrdnt
      241 lkvidlrvsn irqvfradgf kcgsdwtkav fspdrsyala gscdgalyiw dvdtgklesr
      301 lqgphcaavn avawcysgsh mvsvdqgrkv vlwq
//
LOCUS       XP_047284061             513 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium/calmodulin-dependent protein kinase kinase 2 isoform X6
            [Homo sapiens].
ACCESSION   XP_047284061
VERSION     XP_047284061.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428105.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..513
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..513
                     /product="calcium/calmodulin-dependent protein kinase
                     kinase 2 isoform X6"
                     /calculated_mol_wt=56480
     Region          162..442
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(171..174,177,179,192,194,249,267..270,312,316..317,
                     319,329..330)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     CDS             1..513
                     /gene="CAMKK2"
                     /gene_synonym="CAMKK; CAMKKB"
                     /coded_by="XM_047428105.1:132..1673"
                     /db_xref="GeneID:10645"
                     /db_xref="HGNC:HGNC:1470"
                     /db_xref="MIM:615002"
ORIGIN      
        1 msscvssqps snraapqdel ggrgsssses qkpcealrgl sslsihlgme sfivvtecep
       61 gcavdlglar drpleadgqe vpldtsgsqa rphlsgrkls lqersqggla aggsldmngr
      121 cicpslpysp vsspqssprl prrptveshh vsitgmqdcv qlnqytlkde igkgsygvvk
      181 laynendnty yamkvlskkk lirqagfprr ppprgtrpap ggciqprgpi eqvyqeiail
      241 kkldhpnvvk lvevlddpne dhlymvfelv nqgpvmevpt lkplsedqar fyfqdlikgi
      301 eylhyqkiih rdikpsnllv gedghikiad fgvsnefkgs dallsntvgt pafmapesls
      361 etrkifsgka ldvwamgvtl ycfvfgqcpf mderimclhs kiksqalefp dqpdiaedlk
      421 dlitrmldkn pesrivvpei kilvktmirk rsfgnpfegs rreerslsap gnlltkkptr
      481 eceslselkg tkkkkgldsm tstvaagwld rrv
//
LOCUS       XP_047284474            1039 aa            linear   PRI 20-MAR-2023
DEFINITION  R3H domain-containing protein 2 isoform X8 [Homo sapiens].
ACCESSION   XP_047284474
VERSION     XP_047284474.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428518.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1039
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1039
                     /product="R3H domain-containing protein 2 isoform X8"
                     /calculated_mol_wt=114099
     Region          217..278
                     /region_name="R3H_encore_like"
                     /note="R3H domain of encore-like and DIP1-like proteins.
                     Drosophila encore is involved in the germline exit after
                     four mitotic divisions, by facilitating
                     SCF-ubiquitin-proteasome-dependent proteolysis. Maize
                     DBF1-interactor protein 1 (DIP1) containing an R3H...;
                     cd02642"
                     /db_xref="CDD:100071"
     Site            order(250,254)
                     /site_type="other"
                     /note="RxxxH motif"
                     /db_xref="CDD:100071"
     Region          299..352
                     /region_name="SUZ"
                     /note="SUZ domain; pfam12752"
                     /db_xref="CDD:432761"
     Region          <506..>771
                     /region_name="Med15"
                     /note="ARC105 or Med15 subunit of Mediator complex
                     non-fungal; pfam09606"
                     /db_xref="CDD:312941"
     CDS             1..1039
                     /gene="R3HDM2"
                     /gene_synonym="CAG6; PR01365"
                     /coded_by="XM_047428518.1:61..3180"
                     /db_xref="GeneID:22864"
                     /db_xref="HGNC:HGNC:29167"
                     /db_xref="MIM:619886"
ORIGIN      
        1 mgqgrmaagr tapsrldlfl icdaipalds wrlsiysgvh rghcillknm snsnttqetl
       61 eimkesekkl veesvnknkf isktpskeei ekecedtslr qetqrrtsnh gharkraksn
      121 sklklvrsla vceesstpfa dgpletqdii qlhiscpsdk eeekstkdvs ekedkdknke
      181 kiprkmlsrd ssqeytdstg idlheflvnt lkknprdrmm llkleqeile findnnnqfk
      241 kfpqmtsyhr mllhrvaayf gmdhnvdqtg kaviinktsn tripeqrfse hikdekntef
      301 qqrfilkrdd asmdrddnqi rvplqdgrrs ksieereeey qrvrerifar etgqngylnd
      361 irgnreglsr tsssrqsstd selksleprp wsstdsdgsv rsmrppvtka ssfsgisilt
      421 rgdsigsskg gsagrisrpg malgapevcn qvtssqsvrg llpctaqqqq qqqqqqlpal
      481 pptpqqqppl nnhmisqadd lsnpfgqmsl srqgsteaad psaalfqtpl isqhpqqtsf
      541 imastgqplp tsnystssha pptqqvlppq gymqppqqiq vsyyppgqyp nsnqqyrpls
      601 hpvayspqrg qqlpqpsqqp glqpmmpnqq qaayqgmigv qqpqnqglls sqrssmggqm
      661 qglvvqytpl psyqvpvgsd sqnvvqppfq qpmlvpvsqs vqgglpaagv pvyysmippa
      721 qqngtspsvg flqppgseqy qmpqspspcs ppqmpqqysg vspsgpgvvv mqlnvpngpq
      781 ppqnpsmvqw shckyysmdq rgqkpgdlys pdsspqantq mssspvtspt qspapspvts
      841 lssvctglsp lpvltqfprp ggpaqgdgry sllgqplqyn lsicppllhg qstytvhqgq
      901 sglkhgnrgk rqalksastd lgtadvvlgr vlevtdlpeg itrteadklf tqlamsgaki
      961 qwlkdaqglp gggggdnsgt aengrhsdla alytivavfp splaaqnasl rlnnsvsrfk
     1021 lrmakknydl rilerassq
//
LOCUS       XP_047285916             183 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC107984449 [Homo sapiens].
ACCESSION   XP_047285916
VERSION     XP_047285916.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429960.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..183
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..183
                     /product="uncharacterized protein LOC107984449"
                     /calculated_mol_wt=19445
     CDS             1..183
                     /gene="LOC107984449"
                     /coded_by="XM_047429960.1:1170..1721"
                     /db_xref="GeneID:107984449"
ORIGIN      
        1 mllwprtcsr dllpgrpyrl pnstpvvcac aqaplthpgp pppfpenvsf avcacarept
       61 rfagttaars papallavva avcacardpr rprslrgrrr crraqdddee dgaaerspap
      121 kdlepqvaas gpggcaqhlq etrgrgrrpa arqsgvvwrq ggeyaggrvd pqhdtvdsar
      181 egv
//
LOCUS       XP_006719983             886 aa            linear   PRI 20-MAR-2023
DEFINITION  cilium assembly protein DZIP1 isoform X9 [Homo sapiens].
ACCESSION   XP_006719983
VERSION     XP_006719983.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006719920.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..886
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..886
                     /product="cilium assembly protein DZIP1 isoform X9"
                     /calculated_mol_wt=101141
     Region          58..178
                     /region_name="Dzip-like_N"
                     /note="Iguana/Dzip1-like DAZ-interacting protein
                     N-terminal; pfam13815"
                     /db_xref="CDD:433498"
     Region          200..221
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <231..>442
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..886
                     /gene="DZIP1"
                     /gene_synonym="DZIP; DZIPt1; MVP3; SPGF47"
                     /coded_by="XM_006719920.1:856..3516"
                     /db_xref="GeneID:22873"
                     /db_xref="HGNC:HGNC:20908"
                     /db_xref="MIM:608671"
ORIGIN      
        1 mqaeaadwfs smpfqkhvyy plasgpegpd vavaaaaaga asmacappsa asgplpffqf
       61 rprlesvdwr rlsaidvdkv agavdvltlq enimnitfck ledekcphcq sgvdpvllkl
      121 irlaqftiey llhsqeflts qlhtleerlr lshcdgeqsk klltkqagei ktlkeeckrr
      181 kkmistqqlm ieakanyyqc hfcdkafmnq aflqshiqrr hteenshfey qknaqieklr
      241 seivvlkeel qltrseleaa hhasavrfsk eyemqktkee dflklfdrwk eeekeklvde
      301 mekvkemfmk efkeltskns aleyqlseiq ksnmqiksni gtlkdahefk edrspypqdf
      361 hnvmqlldsq eskwtarvqa ihqehkkekg rllshieklr tsmiddlnas nvfykkriee
      421 lgqrlqeqne liitqrqqik dftcnplnsi sepkgnplaw qafesqpaap avpmnapalh
      481 tletksslpm vheqafsshi lepieelsee ekgreneqkl nnnkmhlrka lksnssltkg
      541 lrtmveqnlm ekletlgina dirgissdql hrvlksvese rhkqereipn fhqirefleh
      601 qvsckieeka llssdqcsvs qmdtlstgev pkmiqlpskn rqlirqkavs tdrtsvpkik
      661 knvmedpfpr ksstittppf sseeeqeddd lirayaspgp lpvpppqnkg sfgkntvksd
      721 adgtegseie dtddspkpag vavktptekv ekmfphrknv nkpvggtnvp emfikkeelq
      781 elkcadvede dwdissleee islgkksgke qkepppakne phfahvlnaw gafnpkgpkg
      841 eglllspliq arsifllvvf hlykylinlc wyiirqkscq cflyvi
//
LOCUS       XP_016876587            1743 aa            linear   PRI 20-MAR-2023
DEFINITION  TOG array regulator of axonemal microtubules protein 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_016876587
VERSION     XP_016876587.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017021098.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1743
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1743
                     /product="TOG array regulator of axonemal microtubules
                     protein 1 isoform X1"
                     /calculated_mol_wt=192034
     Site            order(369..370,373,376,378,412..413,416,419..420,423,
                     453..454,457,460..461,464,488..489,497,500..501,528..529,
                     532,535..536)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          395..423
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          435..465
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          470..501
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          512..537
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     CDS             1..1743
                     /gene="TOGARAM1"
                     /gene_synonym="FAM179B; JBTS37; KIAA0423"
                     /coded_by="XM_017021098.2:233..5464"
                     /db_xref="GeneID:23116"
                     /db_xref="HGNC:HGNC:19959"
                     /db_xref="MIM:617618"
ORIGIN      
        1 maaapsalll lppfpvlsty rlqsrsrpsa petddsrvgg imrgeknyyf rgaagdhgsc
       61 ptttsplasa llmpseavss swsesgggls ggdeedtrll qllrtardps eafqalqaal
      121 prrggrlgfp rrkealyral grvlveggsd ekrlclqlls dvlrgqgeag qleeafslal
      181 lpqlvvslre enpalrkdal qilhiclkrs pgevlrtliq qglestdarl rastalllpi
      241 llttedlllg ldlteviisl arklgdqete eesetafsal qqigerlgqd rfqsyisrlp
      301 salrrhynrr lesqfgsqvp yyleleasgf pedplpcavt lsnsnlkfgi ipqelhsrll
      361 dqedyknrtq aveelkqvlg kfnpsstphs slvgfislly nllddsnfkv vhgtlevlhl
      421 lvirlgeqvq qflgpviaas vkvladnklv ikqeymkifl klmkevgpqq vlclllehlk
      481 hkhsrvreev vnicicsllt ypsedfdlpk lsfdlapalv dskrrvrqaa leafavlass
      541 mgsgktsilf kavdtvelqd ngdgvmnavq arlarktlpr lteqgfveya vlmpssaggr
      601 snhlahgadt dwllagnrtq sahchcgdhv rdsmhiygsy sptictrrvl sagkgknklp
      661 weneqpgimg enqtstskdi eqfstydfip saklklsqgm pvnddlcfsr krvsrnlfqn
      721 srdfnpdclp lcaagttgth qtnlsgkcaq lgfsqicgkt gsvgsdlqfl gttsshqekv
      781 yaslnfgskt qqtfgsqtec tssngqnpsp gayilpsypv ssprtspkht spliispkks
      841 qdnsvnfsns wplksfegls kpspqkklvs qkssdptgrn hgensqekpp vqltpalvrs
      901 pssrrglngt kpvppiprgi sllpdkadls tvghkkkepd diwkcekdsl pidlselnfk
      961 dkdldqeemh sslrslrnsa akkraklsgs tsdlespdsa mkldltmdsp slssspnins
     1021 ysesgvysqe sltsslsttp qgkrimsdif ptfgskpcpt rlssakkkis hiaeqspsag
     1081 vfgslssapa tcsqsvissv engdtfsikq sieppsgiyg rsvqqnissy ldvenekdak
     1141 vsiskstynk mrqkrkeeke lfhnkdcekk eknswermrh tgtekmases etptgaisqy
     1201 kermpsvths peimdlselr pfskpeialt ealrlladed wekkieglnf irclaafhse
     1261 ilntklhetn favvqevknl rsgvsraavv clsdlftylk ksmdqeldtt vkvllhkage
     1321 sntfiredvd kalramvnnv tparavvsli nggqshlhia vrrctaqhls dvlefmeper
     1381 ilsaakdmae rilpaaakfa qdssqetryy grkmlffmmc hpnfekmlek yvpskdlpyi
     1441 kdsvrnlqqk glgeipldtp sakgrrshtg svgntrsssv srdafnsaer avtevrevtr
     1501 ksvprnsles aeylklitgl lnakdfrdri ngikqllsdt ennqdlvvgn ivkifdafks
     1561 rlhdsnskvn lvaletmhkm ipllrdhlsp iinmlipaiv dnnlnsknpg iyaaatnvvq
     1621 alsqhvdnyl llqpfctkaq flngkakqdm tekladivte lyqrkphate qkvlvvlwhl
     1681 lgnmtnsgsl pgaggnirta taklskalfa qmgqnllnqa asqpphikks leelldmtil
     1741 nel
//
LOCUS       XP_047287254             210 aa            linear   PRI 20-MAR-2023
DEFINITION  syntaxin-binding protein 6 isoform X2 [Homo sapiens].
ACCESSION   XP_047287254
VERSION     XP_047287254.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431298.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..210
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..210
                     /product="syntaxin-binding protein 6 isoform X2"
                     /calculated_mol_wt=23423
     Region          2..131
                     /region_name="PH-STXBP6"
                     /note="PH-like domain of Syntaxin binding protein 6;
                     cd14681"
                     /db_xref="CDD:270200"
     Region          149..210
                     /region_name="R-SNARE_STXBP6"
                     /note="SNARE domain of STXBP6; cd15892"
                     /db_xref="CDD:277245"
     Site            order(150..151,154..155,157..159,161..166,168..170,
                     172..173,175..176,179..180,182..187,189..191,193..194,
                     196..201,203..204)
                     /site_type="other"
                     /note="heterotetramer interface [polypeptide binding]"
                     /db_xref="CDD:277245"
     Site            176
                     /site_type="other"
                     /note="zero layer"
                     /db_xref="CDD:277245"
     CDS             1..210
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /coded_by="XM_047431298.1:343..975"
                     /db_xref="GeneID:29091"
                     /db_xref="HGNC:HGNC:19666"
                     /db_xref="MIM:607958"
ORIGIN      
        1 msaksaiske ifaplderml gavqvkrrtk kkipflatgg qgeyltyicl svtnkkptqa
       61 sitkvkqfeg stsfvrrsqw mleqlrqvng idpngdsaef dllfenafdq wvastasekc
      121 tffqilhhtc qryltdrkpe fincqskimg gnsilhsaad svtsavqkas qalnergerl
      181 graeektedl knsaqqfaet ahklamkhkc
//
LOCUS       XP_024305383             148 aa            linear   PRI 20-MAR-2023
DEFINITION  putative coiled-coil domain-containing protein 196 isoform X14
            [Homo sapiens].
ACCESSION   XP_024305383
VERSION     XP_024305383.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024449615.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..148
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..148
                     /product="putative coiled-coil domain-containing protein
                     196 isoform X14"
                     /calculated_mol_wt=17173
     Region          24..>112
                     /region_name="PRK12704"
                     /note="phosphodiesterase; Provisional"
                     /db_xref="CDD:237177"
     CDS             1..148
                     /gene="CCDC196"
                     /gene_synonym="C14orf53; LINC00238; NCRNA00238"
                     /coded_by="XM_024449615.2:133..579"
                     /db_xref="GeneID:440184"
                     /db_xref="HGNC:HGNC:20100"
ORIGIN      
        1 mtsganssgs ylpseirssk iddnylkeln edlklrkqel lemlkpledk nnllfqklms
       61 nleekqrslq imrqimagkg ceessvmell keaeemkqnl erknkmlrke memlwnktfe
      121 aeelsdqqka pqtknkadlq dgkdllfl
//
LOCUS       XP_011535533             594 aa            linear   PRI 20-MAR-2023
DEFINITION  actin-histidine N-methyltransferase isoform X1 [Homo sapiens].
ACCESSION   XP_011535533
VERSION     XP_011535533.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011537231.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Jun 6, 2016 this sequence version replaced XP_011535533.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..594
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..594
                     /product="actin-histidine N-methyltransferase isoform X1"
                     /calculated_mol_wt=67126
     Region          80..329
                     /region_name="SET_SETD3"
                     /note="SET domain found in SET domain-containing protein 3
                     (SETD3) and similar proteins; cd19176"
                     /db_xref="CDD:380953"
     Site            order(104,106,180,253..254,275..279,313,325,327,329)
                     /site_type="other"
                     /note="SAM binding site"
                     /db_xref="CDD:380953"
     Site            order(105..106,123,251..256,275..279,286,311..314)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:380953"
     Site            313
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:380953"
     Region          344..475
                     /region_name="Rubis-subs-bind"
                     /note="Rubisco LSMT substrate-binding; pfam09273"
                     /db_xref="CDD:430497"
     CDS             1..594
                     /gene="SETD3"
                     /gene_synonym="C14orf154; hSETD3"
                     /coded_by="XM_011537231.3:123..1907"
                     /db_xref="GeneID:84193"
                     /db_xref="HGNC:HGNC:20493"
                     /db_xref="MIM:615671"
ORIGIN      
        1 mgkksrvktq ksgtgatatv spkeilnlts ellqkcsspa pgpgkeweey vqirtlveki
       61 rkkqkglsvt fdgkredyfp dlmkwaseng asvegfemvn fkeegfglra trdikaeelf
      121 lwvprkllmt vesaknsvlg plysqdrilq amgnialafh llceraspns fwqpyiqtlp
      181 seydtplyfe edevrylqst qaihdvfsqy kntarqyayf ykviqthpha nklplkdsft
      241 yedyrwavss vmtrqnqipt edgsrvtlal iplwdmcnht nglittgynl eddrcecval
      301 qdfrageqiy ifygtrsnae fvihsgfffd nnshdrvkik lgvsksdrly amkaevlara
      361 giptssvfal hfteppisaq llaflrvfcm teeelkehll gdsaidrift lgnsefpvsw
      421 dnevklwtfl edraslllkt ykttieedks vlknhdlsvr akmaiklrlg ekeilekavk
      481 saavnreyyr qqmeekaplp kyeesnlgll essvgdsrlp lvlrnleeea gvqdalnire
      541 aiskakaten glvngensip ngtrsenesl nqeskraved akgsssdsta gvke
//
LOCUS       XP_011519573            1235 aa            linear   PRI 20-MAR-2023
DEFINITION  codanin-1 isoform X2 [Homo sapiens].
ACCESSION   XP_011519573
VERSION     XP_011519573.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521271.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1235
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1235
                     /product="codanin-1 isoform X2"
                     /calculated_mol_wt=134842
     Region          792..907
                     /region_name="Codanin-1_C"
                     /note="Codanin-1 C-terminus; pfam15296"
                     /db_xref="CDD:434606"
     CDS             1..1235
                     /gene="CDAN1"
                     /gene_synonym="CDA1; CDAI; CDAN1A; DLT; PRO1295"
                     /coded_by="XM_011521271.3:27..3734"
                     /db_xref="GeneID:146059"
                     /db_xref="HGNC:HGNC:1713"
                     /db_xref="MIM:607465"
ORIGIN      
        1 maavlesllr eevsvaavvr wiarstqgse vtavtrpqdn ageaaalssl ralrkefvpf
       61 llnflreqss rvlpqgpptp aktpgasaal pgrpggpprg srgarsqlfp pteaqstaae
      121 aplarrggrr rgpgparerg grgleegvsg eslpgaggrr lrgsgspsrp sltlsdppnl
      181 snleefppvg svppgptgtk psrrinptpv seerslskpk tcftsppisc vpssqpsald
      241 tspwglglpp gcrslqeere mlrkerskql qqsptptcpt pelgsplpsr tgsltdepad
      301 parvssrqrl elvalvyssc iaenlvpnlf lelffvfqll tarrmvtakd sdpelspavl
      361 dslesplfqs ihdcvffavq vlechfqvls nldkgtlkll aenerllcfs palqgrlraa
      421 yegsvakvsl vmppstqavs fqpetdnran fssdrafhtf kkqrdvfyev lrewedhhee
      481 pgwdfekglg srirammgql saacshshfv rlfqkqllqm cqspggaggt vlgeapdvls
      541 mlgadklgrl wrlqerlmap qssggpcppp tfpgcqgffr dfilsassfq fnqhlmdsls
      601 lkiqelngla lpqhepnded gesdvdwqge rkqfavvlls lrllakflgf vaflpyrgpe
      661 ppptgelqds ilalrsqvpp vldvrtllqr glqarravlt vpwlveflsf adhvvplley
      721 yrdiftlllr lhrslvlsqe segkmcflnk llllavlgwl fqiptvpedl ffleegpsya
      781 fevdtvapeh gldnapvvdq qllytccpyi gelrkllasw vsgssgrsgg fmrkitpttt
      841 tslgaqpsqt sqglqaqlaq affhnqppsl rrtvefvaer igsncvkhik atlvadlvrq
      901 aesllqeqlv tqgeeggdpa qlleilcsql cphgaqalal grefcqrksp gavrallpee
      961 tpaavlssae niavglatek acawlsanit alirrevkaa vsrtlraqgp epaargerrg
     1021 csracehhap lpshliseik dvlslavgpr dpdegvspeh leqllgqlgq tlrcrqflcp
     1081 paeqhlakcs velasllvad qipilgppaq yrlergqarr llhmllslwk edfqgpvplq
     1141 lllsprnvgl ladtrprewd lllfllrelv ekglmgrmei eaclgslhqa qwpgdfaeel
     1201 atlsnlflae phlpepqlra celvqpnrgt vlaqs
//
LOCUS       XP_011520265             693 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor 12 isoform X4 [Homo sapiens].
ACCESSION   XP_011520265
VERSION     XP_011520265.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521963.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..693
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..693
                     /product="transcription factor 12 isoform X4"
                     /calculated_mol_wt=74165
     Region          582..666
                     /region_name="bHLH_E-protein_TCF4_E2-2"
                     /note="basic helix-loop-helix (bHLH) domain found in
                     transcription factor 4 (TCF-4) and similar proteins;
                     cd18945"
                     /db_xref="CDD:381515"
     Site            order(590,594,596..598,600,605,626..627)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381515"
     Site            order(603..604,607..608,610..611,614,618,628,631,635,638,
                     641..646)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381515"
     CDS             1..693
                     /gene="TCF12"
                     /gene_synonym="bHLHb20; CRS3; HEB; HH26; HsT17266; HTF4;
                     p64; TCF-12"
                     /coded_by="XM_011521963.4:286..2367"
                     /db_xref="GeneID:6938"
                     /db_xref="HGNC:HGNC:11623"
                     /db_xref="MIM:600480"
ORIGIN      
        1 mnpqqqrmaa igtdkelsdl ldfsamfspp vnsgktrptt lgssqfsgsg ftdlntslqy
       61 fsiderggtt swgtsgqpsp sydssrgftd sphysdhlnd srlgahegls ptpfmnsnlm
      121 gktsergsfs lysrdtglpg cqssllrqdl glgspaqlss sgkpgtayys fsatssrrrp
      181 lhdsaaldpl qakkvrkvpp glpssvyaps pnsddfnres psypspkppt smfastffmq
      241 dgthnssdlw sssngmsqpg fggilgtsts hmsqsssygn lhshdrlsyp phsvsptdin
      301 tslppmssfh rgstssspyv aashtpping sdsilgtrgn aagssqtgda lgkalasiys
      361 pdhtsssfps npstpvgsps pltgtsqwpr pggqapssps yenslhslqs rmedrldrld
      421 daihvlrnha vgpstslpag hsdihsllgp shnapigsln snyggsslva ssrsasmvgt
      481 hredsvslng nhsvlsstvt tsstdlnhkt qenyrgglqs qsgtvvttei ktenkekden
      541 lheppssddm ksddessqkd ikvssrgrts tnededlnpe qkierekerr mannarerlr
      601 vrdineafke lgrmcqlhlk sekpqtklli lhqavavils leqqvrernl npkaaclkrr
      661 eeekvsavsa eppttlpgth pglsettnpm ghm
//
LOCUS       XP_011522076             897 aa            linear   PRI 20-MAR-2023
DEFINITION  telomerase-binding protein EST1A isoform X7 [Homo sapiens].
ACCESSION   XP_011522076
VERSION     XP_011522076.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523774.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..897
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..897
                     /product="telomerase-binding protein EST1A isoform X7"
                     /calculated_mol_wt=101759
     Region          147..>338
                     /region_name="PRK12678"
                     /note="transcription termination factor Rho; Provisional"
                     /db_xref="CDD:237171"
     Region          638..743
                     /region_name="EST1"
                     /note="Telomerase activating protein Est1; pfam10374"
                     /db_xref="CDD:431240"
     Region          751..>824
                     /region_name="EST1_DNA_bind"
                     /note="Est1 DNA/RNA binding domain; pfam10373"
                     /db_xref="CDD:431239"
     Region          765..795
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          800..823
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..897
                     /gene="SMG6"
                     /gene_synonym="C17orf31; EST1A; hEST1A; hSMG5/7a; SMG-6"
                     /coded_by="XM_011523774.3:66..2759"
                     /db_xref="GeneID:23293"
                     /db_xref="HGNC:HGNC:17809"
                     /db_xref="MIM:610963"
ORIGIN      
        1 maeglervri saselrgila tlapqagsre nmkelkearp rkdnrrpdle iykpglsrlr
       61 nkpkikeppg seefkdeivn drdcsaveng tqpvkdvcke lnnqeqngpi dpennrgqes
      121 fprtagqedr slkiikrtkk pdlqiyqpgr rlqtvskesa srveeeevln qveqlrveed
      181 ecrgnvakee vankpdraei ekspgggrvg aakgekgkrm gkgegvreth ddpargrpgs
      241 akrysrsdkr rnryrtrsts sagsnnsaeg agltdngcrr rrqdrtkerp rlkkqvsvss
      301 tdsldedrid epdglgprrs serkrhlern wsgrgegeqk nsakeyrgtl rvtfdaeamn
      361 kespmvrsar ddmdrgkpdk glssggkgse kqesknpkqe lrgrgrgili lpahttlsvn
      421 sagspesapl gprllfgsgs kgsrswgrgg ttrrlwdpnn pdqkpalktq tpqlhfldtd
      481 devsptswgd srqaqasyyk fqnsdnpyyy prtpgpasqy pytgynplqy pvgptngvyp
      541 gpyypgyptp sgqyvcsplp tstmspeeve qhmrnlqqqe lhrllrvadn qelqlsnlls
      601 rdrispegle kmaqlraell qlyercilld iefsdnqnvd qilwknafyq viekfrqlvk
      661 dpnvenpeqi rnrllellde gsdffdsllq klqvtykfkl edymdglair skplrktvky
      721 alisaqrcmi cqgdiaryre qasdtanygk arswylkaqh iapkngrpyn qlallavytr
      781 rkldavyyym rslaasnpil takeslmslf eetkrkaeqm ekkqheefdl spdqwrkgkk
      841 stfrhvgddt trleiwihps hprssqgtes gkdseqengl gslspsdrqr tkrefgr
//
LOCUS       XP_011521857             925 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 57 isoform X13 [Homo
            sapiens].
ACCESSION   XP_011521857
VERSION     XP_011521857.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523555.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..925
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..925
                     /product="coiled-coil domain-containing protein 57 isoform
                     X13"
                     /calculated_mol_wt=102251
     Region          <16..362
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          <199..536
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..925
                     /gene="CCDC57"
                     /coded_by="XM_011523555.4:1723..4500"
                     /db_xref="GeneID:284001"
                     /db_xref="HGNC:HGNC:27564"
ORIGIN      
        1 mrkrehefrl qadnmsntal srelkvkllh kelealkeag akaaeslqra eatnaelerk
       61 lqsragelqd leamsrarvk dledklhsvq ltrkkeeetf krkheeldrl arekdavlva
      121 vkgahveqlq elqtrvlelq ahcetleaql rraewrqadt akekdaaidq lredastvks
      181 awdaqiaqls kemvsrdlqi qtlqeeevkl kaqvarsqqd ierykqqlsl averersler
      241 dqvqlgldwq rrcddierdq iqksealiqg lsmaksqvaa klqeteqalq eqevvlkavt
      301 lerdqavqal rmhglprpga qmllrqheee iskdfpssei qrlreqntsl rnaiaqmrke
      361 mealshqipp piqtaaestd anqpdpeagg daatpdyvla leaeirtlkh kfktlekhle
      421 dvldplkmss phaesqpsvr tstettggsa qagqaggsvq agqaggsvqa gpvssglalr
      481 klgdrvqlln llvtrlrqkv lreplepaal qrelprevdq vhlevlelrk qvaelgkhlr
      541 iaqhggaeps grkqppasda valgregltk rgpmeaedqg elflhlrsva rapqtlsmhr
      601 lqrklkeaar kiislrleke qliemgnrlr aelgrperwl lhhalppape arkpgeeprr
      661 pldrspplgq vqphftsqda ksaedeapsr hlgkhqprsa qvgsrldalq gpktqhsiht
      721 vtcksprqke drspkppqap qhpeehgrqs hssssfasgt lqdmwrlldl gsspsgvtsq
      781 gdstpemgsh yvtqaglell gssspaalas qsaemtgvgp tpslawsgal hpnmnqeasl
      841 vrstwapgmr ggmnggsssv cknmqrgphw spsqqpcsgi rtvllsrker tllscfslpa
      901 pvvlvpllls gqavteragh agdil
//
LOCUS       XP_054184407              92 aa            linear   PRI 20-MAR-2023
DEFINITION  C-C motif chemokine 4-like isoform X1 [Homo sapiens].
ACCESSION   XP_054184407
VERSION     XP_054184407.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328432.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..92
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..92
                     /product="C-C motif chemokine 4-like isoform X1"
                     /calculated_mol_wt=10035
     CDS             1..92
                     /gene="CCL4L2"
                     /gene_synonym="AT744.2; CCL4L; SCYA4L; SCYQ4L2"
                     /coded_by="XM_054328432.1:80..358"
                     /db_xref="GeneID:9560"
                     /db_xref="HGNC:HGNC:24066"
                     /db_xref="MIM:610757"
ORIGIN      
        1 mklcvtvlsl lvlvaafcsl alsapmgsdp ptaccfsyta rklprnfvvd yyetsslcsq
       61 pavvfqtkrg kqvcadpses wvqeyvydle ln
//
LOCUS       XP_047293230             336 aa            linear   PRI 20-MAR-2023
DEFINITION  CD226 antigen isoform X1 [Homo sapiens].
ACCESSION   XP_047293230
VERSION     XP_047293230.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437274.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..336
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..336
                     /product="CD226 antigen isoform X1"
                     /calculated_mol_wt=38483
     Region          17..127
                     /region_name="IgV_1_DNAM-1_like"
                     /note="First immunoglobulin variable (IgV) domain of DNAX
                     accessory molecule 1, and similar domains; cd05889"
                     /db_xref="CDD:409472"
     Region          17..21
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409472"
     Region          19..40
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409472"
     Region          23..29
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409472"
     Site            order(31..38,45..53,59..71,91..97,102..116,119..127)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:409472"
     Region          32..40
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409472"
     Region          41..45
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409472"
     Region          45..52
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409472"
     Region          46..52
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409472"
     Region          53..71
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409472"
     Region          59..66
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409472"
     Region          68..72
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409472"
     Region          72..112
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409472"
     Region          79..83
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409472"
     Region          90..97
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409472"
     Region          104..112
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409472"
     Region          113..116
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409472"
     Region          116..126
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409472"
     Region          117..127
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409472"
     Region          140..222
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          148..152
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          162..166
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          204..209
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..336
                     /gene="CD226"
                     /gene_synonym="DNAM-1; DNAM1; PTA1; TLiSA1"
                     /coded_by="XM_047437274.1:313..1323"
                     /db_xref="GeneID:10666"
                     /db_xref="HGNC:HGNC:16961"
                     /db_xref="MIM:605397"
ORIGIN      
        1 mdyptlllal lhvyralcee vlwhtsvpfa enmslecvyp smgiltqvew fkigtqqdsi
       61 aifspthgmv irkpyaervy flnstmasnn mtlffrnase ddvgyyscsl ytypqgtwqk
      121 viqvvqsdsf eaavpsnshi vsepgknvtl tcqpqmtwpv qavrwekiqp rqidlltycn
      181 lvhgrnftsk fprqivsncs hgrwsvivip dvtvsdsgly rcylqasage netfvmrltv
      241 aegktdnqyt lfvaggtvll llfvisitti iviflnrrrr rerrdlftes wdtqkapnny
      301 rspistsqpt nqsmddtred iyvnyptfsr rpktrv
//
LOCUS       XP_047293378            1363 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 7 isoform X2 [Homo sapiens].
ACCESSION   XP_047293378
VERSION     XP_047293378.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437422.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1363
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..1363
                     /product="WD repeat-containing protein 7 isoform X2"
                     /calculated_mol_wt=150103
     Region          <19..195
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          <19..102
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          22..62
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          68..109
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          114..153
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          162..208
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          408..>598
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          409..461
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          516..558
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          563..589
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..1363
                     /gene="WDR7"
                     /gene_synonym="TRAG"
                     /coded_by="XM_047437422.1:238..4329"
                     /db_xref="GeneID:23335"
                     /db_xref="HGNC:HGNC:13490"
                     /db_xref="MIM:613473"
ORIGIN      
        1 magnslvlpi vlwgrkapth cisavlltdd gativtgchd gqiclwdlsv elqinprall
       61 fghtasitcl skacassdkq yivsasesge mclwdvsdgr cieftklact htgiqfyqfs
      121 vgnqregrll chghypeilv vdatslevly slvskispdw issmsiirsh rtqedtvval
      181 svtgilkvwi vtseisdmqd tepifeeesk piycqncqsi sfcaftqrsl lvvcskywrv
      241 fdagdysllc sgpsengqtw tggdfvssdk viiwtengqs yiyklpascl pasdsfrsdv
      301 gkavenlipp vqhilldrkd kellicppvt rffygcreyf hklliqgdss grlniwnisd
      361 tadkqgseeg lamttsislq eafdklnpcp agiidqlsvi pnsneplkvt asvyipahgr
      421 lvcgredgsi vivpatqtai vqllqgehml rrgwpphrtl rghrnkvtcl lyphqvsary
      481 dqrylisggv dfsviiwdif sgemkhifcv hggeitqllv ppencsarvq hcicsvasdh
      541 svgllslrek kcimlasrhl fpiqvikwrp sddylvvgcs dgsvyvwqmd tgaldrcvmg
      601 itaveilnac deavpaavds lshpavnlkq amtrrslaal knmahhklqt latnllasea
      661 sdkgnlpkys hnslmvqaik tnltdpdihv lffdvealii qllteeasrp ntalispenl
      721 qkasgssdkg gsfltgkraa vlfqqvketi kenikehlld deeedeeimr qrreesdpey
      781 rsskskpltl leynltmdta klfmsclhaw glnevldevc ldrlgmlkph ctvsfgllsr
      841 gghmslmlpg ynqpacklsh gktevgrklp asegvgkgty gvsravttqh llsiislant
      901 lmsmtnatfi gdhmkkgptr pprpstpdls kargspptss nivqgqikqg wsqlaamhcv
      961 mlpdllgldk frppllemla rrwqdrclev reaaqallla elrrieqagr keaidawapy
     1021 lpqyidhvis pgvtseaaqt ittapdasgp eakvqeeehd lvdddittgc lssvpqmkki
     1081 stsyeerrkq ataivllgvi gaefgaeiep pklltrprss sqipegfglt sggsnyslar
     1141 htckaltfll lqppspklpp hstirrtaid ligrgftvwe pymdvsavlm gllelcadae
     1201 kqlanitmgl plspaadsar sarhalslia tarppafitt iakevhrhta laantqsqqn
     1261 mhtttlarak geilrvieil iekmptdvvd llvevmdiim yclegslvkk kglqecfpai
     1321 crfymvsyye rnhriavgar hgsvalydir tgkcqalyqa ker
//
LOCUS       XP_016881633             316 aa            linear   PRI 20-MAR-2023
DEFINITION  SWI/SNF-related matrix-associated actin-dependent regulator of
            chromatin subfamily E member 1-related isoform X1 [Homo sapiens].
ACCESSION   XP_016881633
VERSION     XP_016881633.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017026144.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..316
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..316
                     /product="SWI/SNF-related matrix-associated
                     actin-dependent regulator of chromatin subfamily E member
                     1-related isoform X1"
                     /calculated_mol_wt=35553
     Region          69..147
                     /region_name="HMG-box_HMG20B"
                     /note="high mobility group (HMG)-box found in high
                     mobility group protein 20B (HMG20B) and similar proteins;
                     cd22018"
                     /db_xref="CDD:438834"
     Site            order(71..72,74..78,81..82,89,101..102,105,108..109,116,
                     120,123,127,130)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438834"
     CDS             1..316
                     /gene="HMG20B"
                     /gene_synonym="BRAF25; BRAF35; HMGX2; HMGXB2; PP7706;
                     pp8857; SMARCE1r; SOXL"
                     /coded_by="XM_017026144.2:70..1020"
                     /db_xref="GeneID:10362"
                     /db_xref="HGNC:HGNC:5002"
                     /db_xref="MIM:605535"
ORIGIN      
        1 mshgpkqpga aaapaggkap gqhggfvvtv kqergegpra gekgsheeep vkkrgwpkgk
       61 krkkilpngp kapvtgyvrf lnerreqirt rhpdlpfpei tkmlgaewsk lqptekqryl
      121 deaerekqqy mkelrayqqs eaykmcteki qekkikkdss sglmntllng hkggdcdgfs
      181 tfdvpiftee fldqnkarea elrrlrkmnv afeeqnavlq rhtqsmssar erleqelale
      241 errtlalqqq lqavrqalta sfaslpvpgt getptlgtld fymarlhgai erdpaqhekl
      301 ivrikeilaq vasehl
//
LOCUS       XP_011524905             569 aa            linear   PRI 20-MAR-2023
DEFINITION  gametogenetin isoform X2 [Homo sapiens].
ACCESSION   XP_011524905
VERSION     XP_011524905.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011526603.3
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..569
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..569
                     /product="gametogenetin isoform X2"
                     /calculated_mol_wt=57790
     Region          2..569
                     /region_name="GGN"
                     /note="Gametogenetin; pfam15685"
                     /db_xref="CDD:434857"
     CDS             1..569
                     /gene="GGN"
                     /coded_by="XM_011526603.3:278..1987"
                     /db_xref="GeneID:199720"
                     /db_xref="HGNC:HGNC:18869"
                     /db_xref="MIM:609966"
ORIGIN      
        1 mpppeeaaav sapppapagt llpgpskwqk pagtpvprir rlleashrgq gdppslrplk
       61 ppppprqlsv kdtvprapsq fpppletwkp ppplpserqp adrritpala tpaspptesq
      121 agprnqgqta grarggapph agegemaqpa dsesglsllc kitfksrpsl appaasssla
      181 akaslggggg gglfaasgai syaevlkqgp lppgaarplg evsrgaqeae ggdgdgegcs
      241 gppsapasqa ralppppytt fpgskpkfdw vsapdgperh frfngagggi gaprrraaal
      301 sgpwgspppp peqihsapgp rrpapallap ptfifpaptn gepmrpgppg lqelpplppp
      361 tppptlqppa lqptplpvap pltpglghke salaptaapa lppalaadqa papspapapt
      421 vaepsppvsa papaaapikt rtrrnkgsra argatrkdgl hgdgprerat atvpdssggg
      481 gggsgasqtg aantraarhw lpfqvlnscp ckcychhqpr hrrlprnvsa wlststnhlg
      541 eppwvatikl sgslvakleh ydlqathsn
//
LOCUS       XP_011525708             228 aa            linear   PRI 20-MAR-2023
DEFINITION  transcriptional enhancer factor TEF-4 isoform X13 [Homo sapiens].
ACCESSION   XP_011525708
VERSION     XP_011525708.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011527406.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..228
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..228
                     /product="transcriptional enhancer factor TEF-4 isoform
                     X13"
                     /calculated_mol_wt=24250
     Region          40..107
                     /region_name="TEA"
                     /note="TEA domain; smart00426"
                     /db_xref="CDD:128703"
     CDS             1..228
                     /gene="TEAD2"
                     /gene_synonym="ETF; TEAD-2; TEF-4; TEF4"
                     /coded_by="XM_011527406.4:359..1045"
                     /db_xref="GeneID:8463"
                     /db_xref="HGNC:HGNC:11715"
                     /db_xref="MIM:601729"
ORIGIN      
        1 mgepragaal ddgsgwtgse egseegtggs egaggdggpd aegvwspdie qsfqealaiy
       61 ppcgrrkiil sdegkmygrn eliaryiklr tgktrtrkqv sshiqvlarr ksreiqsklk
      121 alnvdqvskd kafqtmatms saqlisapsl qaklgptgpq aselfqfwsg gsgppwnvpd
      181 vkpfsqtpft lsltppstdl pgrnsfpeap qqispnvsla rtvshghf
//
LOCUS       XP_047298959             430 aa            linear   PRI 20-MAR-2023
DEFINITION  AT-rich interactive domain-containing protein 5A isoform X4 [Homo
            sapiens].
ACCESSION   XP_047298959
VERSION     XP_047298959.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443003.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..430
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..430
                     /product="AT-rich interactive domain-containing protein 5A
                     isoform X4"
                     /calculated_mol_wt=45348
     CDS             1..430
                     /gene="ARID5A"
                     /gene_synonym="MRF-1; MRF1; RP11-363D14"
                     /coded_by="XM_047443003.1:793..2085"
                     /db_xref="GeneID:10865"
                     /db_xref="HGNC:HGNC:17361"
                     /db_xref="MIM:611583"
ORIGIN      
        1 makenrgddg aterpkkake errmdqmmpg ktkadaadpa plpsqepprn steqqglasg
       61 ssvsfvgasg cpeaykrlls sfyckgthgi msplakkkll aqvskvealq cqeegcrhga
      121 epqaspavhl pespqspkgl tensrhrltp qeglqapggs lreeaqagpc paapifkgcf
      181 ythptevlkp vsqhprdffs rlkdgvllgp pgkeglsvke pqlvwggdan rpsafhkggs
      241 rkgilypkpk acwvspmakv paesptlppt fpsspglgsk rsleeegaah sgkrlravsp
      301 flkeadakkc gakpagsglv scllgpalgp vppeayrgtm lhcplnftgt pgplkgqaal
      361 pfsplvipaf pahflatagp spmaaglmhf pptsfdsalr hrlcpassaw happvttyaa
      421 phffhlntkl
//
LOCUS       XP_047299677             532 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein Helios isoform X2 [Homo sapiens].
ACCESSION   XP_047299677
VERSION     XP_047299677.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443721.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..532
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..532
                     /product="zinc finger protein Helios isoform X2"
                     /calculated_mol_wt=60130
     Region          120..140
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(125,127,129,131..132,135..136,139,153,155,159..160,
                     163..164,167,181,183,185,187..188,191..192,195)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          133..157
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          148..168
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          160..185
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          176..196
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          204..225
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..532
                     /gene="IKZF2"
                     /gene_synonym="ANF1A2; HELIOS; ZNF1A2; ZNFN1A2"
                     /coded_by="XM_047443721.1:135..1733"
                     /db_xref="GeneID:22807"
                     /db_xref="HGNC:HGNC:13177"
                     /db_xref="MIM:606234"
ORIGIN      
        1 mhctltmete aidgyitcdn elsperehsn maidltsstp ngqhaspshm tstnsvklem
       61 qsdeecdrkp lsredeirgh degssleepl iessevadnr kvqelqgegg irlpngklkc
      121 dvcgmvcigp nvlmvhkrsh tgerpfhcnq cgasftqkgn llrhiklhsg ekpfkcpfcs
      181 yacrrrdalt ghlrthsvgk phkcnycgrs ykqrssleeh kerchnylqn vsmeaagqvm
      241 shhvppmedc keqepimdnn islvpferpa viekltgnmg krksstpqkf vgeklmrfsy
      301 pdihfdmnlt yekeaelmqs hmmdqainna itylgaealh plmqhppsti aevapvissa
      361 ysqvyhpnri erpisretad shennmdgpi slirpksrpq ereaspsnsc ldstdsessh
      421 ddhqsyqghp alnpkrkqsp aymkedvkal dttkapkgsl kdiykvfnge geqirafkce
      481 hcrvlfldhv mytihmgchg yrdplecnic gyrsqdryef sshivrgeht fh
//
LOCUS       XP_016860566             330 aa            linear   PRI 20-MAR-2023
DEFINITION  anthrax toxin receptor 1 isoform X2 [Homo sapiens].
ACCESSION   XP_016860566
VERSION     XP_016860566.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017005077.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..330
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..330
                     /product="anthrax toxin receptor 1 isoform X2"
                     /calculated_mol_wt=36693
     Region          39..223
                     /region_name="vWA_ATR"
                     /note="ATR (Anthrax Toxin Receptor): Anthrax toxin is a
                     key virulence factor for Bacillus anthracis, the causative
                     agent of anthrax. ATR is the cellular receptor for the
                     anthrax protective antigen and facilitates entry of the
                     toxin into cells. The VWA domain in...; cd01474"
                     /db_xref="CDD:238751"
     Site            order(50,52,54,118,150)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238751"
     Region          218..317
                     /region_name="Anth_Ig"
                     /note="Anthrax receptor extracellular domain; pfam05587"
                     /db_xref="CDD:428528"
     CDS             1..330
                     /gene="ANTXR1"
                     /gene_synonym="ATR; GAPO; TEM8"
                     /coded_by="XM_017005077.3:357..1349"
                     /db_xref="GeneID:84168"
                     /db_xref="HGNC:HGNC:21014"
                     /db_xref="MIM:606410"
ORIGIN      
        1 mataerralg igfqwlslat lvlicagqgg rredggpacy ggfdlyfild ksgsvlhhwn
       61 eiyyfveqla hkfispqlrm sfivfstrgt tlmkltedre qirqgleelq kvlpggdtym
      121 hegferaseq iyyenrqgyr tasviialtd gelhedlffy sereanrsrd lgaivycvgv
      181 kdfnetqlar iadskdhvfp vndgfqalqg iihsilkksc ieilaaepst icagesfqvv
      241 vrgngfrhar nvdrvlcsfk indsvtlnek pfsvedtyll cpapilkevg mkaalqvsmn
      301 dglsfisssv iittthcgls leqsevdivp
//
LOCUS       XP_024308944             753 aa            linear   PRI 20-MAR-2023
DEFINITION  lysyl oxidase homolog 3 isoform X1 [Homo sapiens].
ACCESSION   XP_024308944
VERSION     XP_024308944.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453176.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..753
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..753
                     /product="lysyl oxidase homolog 3 isoform X1"
                     /calculated_mol_wt=83036
     Region          45..144
                     /region_name="SR"
                     /note="Scavenger receptor Cys-rich; smart00202"
                     /db_xref="CDD:214555"
     Region          184..281
                     /region_name="SR"
                     /note="Scavenger receptor Cys-rich; smart00202"
                     /db_xref="CDD:214555"
     Region          307..407
                     /region_name="SR"
                     /note="Scavenger receptor Cys-rich; smart00202"
                     /db_xref="CDD:214555"
     Region          417..525
                     /region_name="SR"
                     /note="Scavenger receptor Cys-rich; smart00202"
                     /db_xref="CDD:214555"
     Region          530..727
                     /region_name="Lysyl_oxidase"
                     /note="Lysyl oxidase; pfam01186"
                     /db_xref="CDD:426108"
     CDS             1..753
                     /gene="LOXL3"
                     /gene_synonym="LOXL; MYP28"
                     /coded_by="XM_024453176.2:118..2379"
                     /db_xref="GeneID:84695"
                     /db_xref="HGNC:HGNC:13869"
                     /db_xref="MIM:607163"
ORIGIN      
        1 mrpvsvwqws pwglllcllc ssclgspsps tgpekkagsq glrfrlagfp rkpyegrvei
       61 qragewgtic dddftlqaah ilcrelgfte atgwthsaky gpgtgriwld nlscsgteqs
      121 vtecasrgwg nsdcthdeda gvickdqrlp gfsdsnviev ehhlqveevr irpavgwgrr
      181 plpvteglve vrlpdgwsqv cdkgwsahns hvvcgmlgfp sekrvnaafy rllaqrqqhs
      241 fglhgvacvg teahlslcsl efyrandtar cpgggpavvs cvpgpvyaas sgqkkqqqsk
      301 pqgearvrlk ggahpgegrv evlkastwgt vcdrkwdlha asvvcrelgf gsarealsga
      361 rmgqgmgaih lsevrcsgqe lslwkcphkn itaedcshsq dagvrcnlpy tgaetrirls
      421 ggrsqhegrv evqiggpgpl rwglicgddw gtleamvacr qlglgyanhg lqetwywdsg
      481 nitevvmsgv rctgtelsld qcahhgthit ckrtgtrfta gvicsetasd lllhsalvqe
      541 tayiedrplh mlycaaeenc lassarsanw pyghrrllrf ssqihnlgra dfrpkagrhs
      601 wvwhechghy hsmdifthyd iltpngtkva eghkasfcle dtecqedvsk ryecanfgeq
      661 gitvgcwdly rhdidcqwid itdvkpgnyi lqvvinpnfe vaesdftnna mkcnckydgh
      721 riwvhnchig dafseeanrr ferypgqtsn qii
//
LOCUS       XP_011526913             359 aa            linear   PRI 20-MAR-2023
DEFINITION  protein LSM14 homolog B isoform X9 [Homo sapiens].
ACCESSION   XP_011526913
VERSION     XP_011526913.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011528611.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..359
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..359
                     /product="protein LSM14 homolog B isoform X9"
                     /calculated_mol_wt=38982
     Region          6..79
                     /region_name="LSm14_N"
                     /note="Like-Sm protein 14, N-terminal domain; cd01736"
                     /db_xref="CDD:212483"
     Site            order(14..20,22..34,37..41)
                     /site_type="other"
                     /note="Sm1 motif"
                     /db_xref="CDD:212483"
     Site            order(32,34,70)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:212483"
     Site            66..77
                     /site_type="other"
                     /note="Sm2 motif"
                     /db_xref="CDD:212483"
     Region          221..323
                     /region_name="FDF"
                     /note="FDF domain; pfam09532"
                     /db_xref="CDD:430668"
     CDS             1..359
                     /gene="LSM14B"
                     /gene_synonym="bA11M20.3; C20orf40; FAM61B; FT005; LSM13;
                     RAP55B"
                     /coded_by="XM_011528611.4:193..1272"
                     /db_xref="GeneID:149986"
                     /db_xref="HGNC:HGNC:15887"
ORIGIN      
        1 msgssgtpyl gskisliska qiryegilyt idtdnstval akvrsfgted rptdrpappr
       61 eeiyeyiifr gsdikditvc eppkaqhtlp qdpaivqssl gsasaspfqp hvpyspfrgm
      121 apygplaass llsqqyaasl glgagfpsip vgkspmveqa vqtgsadnln akkllpgkgt
      181 tgtqlngrqa qpssktasgn rrtrnrsrgq nrptnvkent ikfegdfdfe sanaqfnree
      241 ldkefkkkln fkddkaekge ekdlavvtqs aeapaeedll gpncyydksk sffdnissel
      301 ktssrrttwa eerklntetf gvsgrflrgr ssrggfrggr gngttrrnpt shragtgrv
//
LOCUS       XP_047303403            2263 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-6(VI) chain isoform X2 [Homo sapiens].
ACCESSION   XP_047303403
VERSION     XP_047303403.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447447.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2263
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..2263
                     /product="collagen alpha-6(VI) chain isoform X2"
                     /calculated_mol_wt=247043
     Region          26..192
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Site            order(33,105,140)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238119"
     Region          229..396
                     /region_name="VWA"
                     /note="von Willebrand factor type A domain; pfam00092"
                     /db_xref="CDD:425461"
     Site            order(235,306,341)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238119"
     Region          436..605
                     /region_name="VWA"
                     /note="von Willebrand factor type A domain; pfam00092"
                     /db_xref="CDD:425461"
     Site            order(442,444,446,513,546)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238749"
     Site            order(444..446,448,513)
                     /site_type="active"
                     /note="integrin-collagen binding site [active]"
                     /db_xref="CDD:238749"
     Site            order(474,489..490,501..502,504..505)
                     /site_type="active"
                     /note="putative vWF-collagen binding site [active]"
                     /db_xref="CDD:238749"
     Region          622..790
                     /region_name="VWA"
                     /note="von Willebrand factor type A domain; pfam00092"
                     /db_xref="CDD:425461"
     Site            order(628,630,632,699,731)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238749"
     Site            order(630..632,634,699)
                     /site_type="active"
                     /note="integrin-collagen binding site [active]"
                     /db_xref="CDD:238749"
     Site            order(660,675..676,687..688,690..691)
                     /site_type="active"
                     /note="putative vWF-collagen binding site [active]"
                     /db_xref="CDD:238749"
     Site            order(808,810,831,914,916,944,969)
                     /site_type="active"
                     /note="integrin inhibitor binding pocket [active]"
                     /db_xref="CDD:238727"
     Region          809..981
                     /region_name="VWA"
                     /note="von Willebrand factor type A domain; pfam00092"
                     /db_xref="CDD:425461"
     Site            order(815,817,819,886,920)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238727"
     Site            order(817..819,821,886)
                     /site_type="active"
                     /note="integrin-collagen binding site [active]"
                     /db_xref="CDD:238727"
     Site            order(847,862..863,874..875)
                     /site_type="active"
                     /note="putative vWF-collagen binding site [active]"
                     /db_xref="CDD:238727"
     Site            order(856..857,859,890,893,896..897)
                     /site_type="other"
                     /note="glycoprotein Ib (GpIb) binding site [polypeptide
                     binding]"
                     /db_xref="CDD:238727"
     Region          1000..1170
                     /region_name="VWA"
                     /note="von Willebrand factor type A domain; pfam00092"
                     /db_xref="CDD:425461"
     Site            order(1006,1008,1010,1077,1111)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238749"
     Site            order(1008..1010,1012,1077)
                     /site_type="active"
                     /note="integrin-collagen binding site [active]"
                     /db_xref="CDD:238749"
     Site            order(1038,1053..1054,1065..1066,1068..1069)
                     /site_type="active"
                     /note="putative vWF-collagen binding site [active]"
                     /db_xref="CDD:238749"
     Region          1206..1345
                     /region_name="VWA"
                     /note="von Willebrand factor (vWF) type A domain;
                     smart00327"
                     /db_xref="CDD:214621"
     Region          <1415..>1685
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          1656..1725
                     /region_name="Collagen"
                     /note="Collagen triple helix repeat (20 copies);
                     pfam01391"
                     /db_xref="CDD:396114"
     Region          1757..1922
                     /region_name="VWA"
                     /note="von Willebrand factor type A domain; pfam00092"
                     /db_xref="CDD:425461"
     Site            order(1763,1765,1767,1839,1872)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238727"
     Site            order(1765..1767,1769,1839)
                     /site_type="active"
                     /note="integrin-collagen binding site [active]"
                     /db_xref="CDD:238727"
     Site            order(1799,1814..1815,1826..1827)
                     /site_type="active"
                     /note="putative vWF-collagen binding site [active]"
                     /db_xref="CDD:238727"
     Site            order(1808..1809,1811,1844,1847,1851..1852)
                     /site_type="other"
                     /note="glycoprotein Ib (GpIb) binding site [polypeptide
                     binding]"
                     /db_xref="CDD:238727"
     Region          1964..2142
                     /region_name="vWFA_subfamily_ECM"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cd01450"
                     /db_xref="CDD:238727"
     Site            order(1964,1966,1987,2084,2086,2116,2142)
                     /site_type="active"
                     /note="integrin inhibitor binding pocket [active]"
                     /db_xref="CDD:238727"
     Site            order(1971,1973,1975,2090)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238727"
     Site            order(1973..1975,1977)
                     /site_type="active"
                     /note="integrin-collagen binding site [active]"
                     /db_xref="CDD:238727"
     Site            order(2009,2034..2035,2046..2047)
                     /site_type="active"
                     /note="putative vWF-collagen binding site [active]"
                     /db_xref="CDD:238727"
     Site            order(2028..2029,2031,2063,2066,2070..2071)
                     /site_type="other"
                     /note="glycoprotein Ib (GpIb) binding site [polypeptide
                     binding]"
                     /db_xref="CDD:238727"
     CDS             1..2263
                     /gene="COL6A6"
                     /coded_by="XM_047447447.1:383..7174"
                     /db_xref="GeneID:131873"
                     /db_xref="HGNC:HGNC:27023"
                     /db_xref="MIM:616613"
ORIGIN      
        1 mmllilflvi icshisvnqd sgpeyadvvf lvdssdrlgs ksfpfvkmfi tkmisslpie
       61 adkyrvalaq ysdklhsefh lstfkgrspm lnhlrknfgf iggslqigka lqeahrtyfs
      121 apangrdkkq fppilvvlas sesednveea skalrkdgvk iisvgvqkas eenlkamats
      181 qfhfnlrtvr dlsmfsqnmt hiikdvikyk egavddifve acqgpsmadv vflldmsing
      241 seenfdylkg fleesvsald ikencmrvgl vaysnetkvi nslsmginks evlqhiqnls
      301 prtgkaytga aikklrkevf sarngsrknq gvpqiavlvt hrdsednvtk aavnlrregv
      361 tiftlgiega sdtqlekias hpaeqyvskl ktfadlaahn qtflkklrnq ithtvsvfse
      421 rtetlksgcv dteeadiyll idgsgstqat dfhemktfls evvgmfniap hkvrvgavqy
      481 adswdlefei nkysnkqdlg kaienirqmg gntntgaaln ftlsllqkak kqrgnkvpch
      541 lvvltngmsk dsilepanrl reehirvyai gikeanqtql reiageekrv yyvhdfdalk
      601 dirnqvvqei cteeackemk adimflvdss gsigpenfsk mktfmknlvs ksqigpdrvq
      661 igvvqfsdin keefqlnrfm sqsdisnaid qmahigqttl tgsalsfvsq yfsptkgarp
      721 nirkflilit dgeaqdivke pavvlrqegv iiysvgvfgs nvtqleeisg rpemvfyven
      781 fdilqriedd lvfgicspre eckrievldv vfvidssgsi dydeynimkd fmiglvkkad
      841 vgknqvrfga lkyaddpevl fylddfgtkl evisvlqndq amggstytae algfsdhmft
      901 eargsrlnkg vpqvlivitd geshdadkln atakalrdkg ilvlavgidg anpvellama
      961 gssdkyffve tfgglkgifs dvtasvcnss kvdceidkvd lvflmdgsts iqpndfkkmk
     1021 eflasvvqdf dvslnrvrig aaqfsdtyhp efplgtfige keisfqieni kqifgnthig
     1081 aalrevehyf rpdmgsrint gtpqvllvlt dgqsqdevaq aaealrhrgi diysvgigdv
     1141 ddqqliqitg taekkltvhn fdelkkvnkr ivrnicttag esncfvdvvv gfdvstqekg
     1201 qtllegqpwm etylqdilra isslngvsce vgtetqvsva fqvtnameky spkfeiysen
     1261 ilnslkditv kgpsllnanl ldslwdtfqn ksaargkvvl lfsdgldddv ekleqksdel
     1321 rkeglnalit valdgpadss dladlpyief gkgfeyrtql sigmrelgsr lskqlvnvae
     1381 rtccclfckc iggdgtmgdp gppgkrgppg fkgsegylge egiagergap gpvgeqgtkg
     1441 cygtkgpkgn rglngqegev gengidglng eqgdnglpgr kgekgdegsq gspgkrgtpg
     1501 drgakglrgd pgapgvdssi egptglkger grqgrrgwpg ppgtpgsrrk taahgrrght
     1561 gpqgtagipg pdglegslgl kgpqgprgea gvkgekggvg skgpqgppgp ggeagnqgrl
     1621 gsqgnkgepg dlgekgavgf pgprglqgnd gspgygsvgr kgakgqegfp gesgpkgeig
     1681 dpggpgetgl kgargkmisa glpgemgspg epgppgrkgv kgakglasfs tceliqyvrd
     1741 rspgrhgkpe cpvhptelvf aldhsrdvte qefermkemm aflvrdikvr enscpvgahi
     1801 ailsynshar hlvrfsdayk ksqllreiet ipyerssasr eigramrfis rnvfkrtlpg
     1861 ahtrkiatff ssgqsadahs ittaamefga leiipvvitf snvpsvrraf aiddtgtfqv
     1921 ivvpsgadyi palerlqrct fcydvckpda scdqarpppv qsymdaafll dasrnmgsae
     1981 fediraflga lldhfeitpe petsvtgdrv allshappdf lpntqkspvr aefnlttyrs
     2041 krlmkrhvhe svkqlngdaf ighalqwtld nvflstpnlr rnkvifvisa getshldgei
     2101 lkkeslrakc qgyalfvfsl gpiwddkele dlashpldhh lvqlgrihkp dhsygvkfvk
     2161 sfinsirrai nkyppinlki kcnrlnsidp kqpprpfrsf vpgplkatlk edvlqkakff
     2221 qdkkylsrva rsgrddaiqn fmrstshtfk ngrmiesapk qhd
//
LOCUS       XP_047304655             785 aa            linear   PRI 20-MAR-2023
DEFINITION  semaphorin-3F isoform X1 [Homo sapiens].
ACCESSION   XP_047304655
VERSION     XP_047304655.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448699.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..785
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..785
                     /product="semaphorin-3F isoform X1"
                     /calculated_mol_wt=88251
     Region          48..548
                     /region_name="Sema_3F"
                     /note="The Sema domain, a protein interacting module, of
                     semaphorin 3F (Sema3F); cd11254"
                     /db_xref="CDD:200515"
     Site            order(105..108,198..199,203,224,226..227,234,244,247..248,
                     250,255,284,307..311,313,429,433,436)
                     /site_type="other"
                     /note="putative plexin binding site [polypeptide binding]"
                     /db_xref="CDD:200515"
     Site            order(285..287,290..292,326,329..330,332,334,338,361..368,
                     394..397,442,457)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:200515"
     Region          547..584
                     /region_name="PSI"
                     /note="domain found in Plexins, Semaphorins and Integrins;
                     smart00423"
                     /db_xref="CDD:214655"
     Region          608..697
                     /region_name="Ig_Sema3"
                     /note="Immunoglobulin (Ig)-like domain of class III
                     semaphorin Sema3; cd05871"
                     /db_xref="CDD:409455"
     Region          608..614
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409455"
     Region          619..627
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409455"
     Site            order(621,666)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:409455"
     Region          633..639
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409455"
     Region          641..644
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409455"
     Region          654..658
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409455"
     Region          661..668
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409455"
     Region          674..683
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409455"
     Region          686..697
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409455"
     CDS             1..785
                     /gene="SEMA3F"
                     /gene_synonym="SEMA-IV; SEMA4; SEMAK"
                     /coded_by="XM_047448699.1:319..2676"
                     /db_xref="GeneID:6405"
                     /db_xref="HGNC:HGNC:10728"
                     /db_xref="MIM:601124"
ORIGIN      
        1 mlvaglllwa slltgawpsf ptqdhlpatp rvrlsfkelk atgtahffnf llnttdyril
       61 lkdedhdrmy vgskdyvlsl dlhdinrepl iihwaaspqr ieecvlsgkd vngecgnfvr
      121 liqpwnrthl yvcgtgaynp mctyvnrgrr aqatpwtqtq avrgrgsrat dgalrpmpta
      181 prqdyifyle perlesgkgk cpydpkldta salineelya gvyidfmgtd aaifrtlgkq
      241 tamrtdqyns rwlndpsfih aelipdsaer nddklyfffr ersaeapqsp avyarigric
      301 lnddgghccl vnkwstflka rlvcsvpged giethfdelq dvfvqqtqdv rnpviyavft
      361 ssgsvfrgsa vcvysmadir mvfngpfahk egpnyqwmpf sgkmpyprpg tcpggtftps
      421 mkstkdypde vinfmrshpl myqavyplqr rplvvrtgap yrlttiavdq vdaadgryev
      481 lflgtdrgtv qkvivlpkdd qeleelmlee vevfkdpapv ktmtisskrq qlyvasavgv
      541 thlslhrcqa ygaacadccl ardpycawdg qacsrytass krrsrrqdvr hgnpirqcrg
      601 fnsnanknav esvqygvags aaflecqprs pqatvkwlfq rdpgdrrrei raedrflrte
      661 qglllralql sdrglyscta tennfkhvvt rvqlhvlgrd avhaalfppl smsappppga
      721 gpptppyqel aqllaqpevg lihqycqgyw rhvppsprea pgaprspepq dqkkprnrrh
      781 hppdt
//
LOCUS       XP_006713484            1255 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium bicarbonate cotransporter 3 isoform X1 [Homo sapiens].
ACCESSION   XP_006713484
VERSION     XP_006713484.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006713421.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1255
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1255
                     /product="sodium bicarbonate cotransporter 3 isoform X1"
                     /calculated_mol_wt=140192
     Region          118..1140
                     /region_name="Band_3_cyto"
                     /note="Band 3 cytoplasmic domain; cl26877"
                     /db_xref="CDD:452680"
     CDS             1..1255
                     /gene="SLC4A7"
                     /gene_synonym="NBC2; NBC3; NBCN1; SBC2; SLC4A6"
                     /coded_by="XM_006713421.4:259..4026"
                     /db_xref="GeneID:9497"
                     /db_xref="HGNC:HGNC:11033"
                     /db_xref="MIM:603353"
ORIGIN      
        1 meadgageqm rplltrgpde eavvdlgkts stvntkfeke eleshravyi gvhvpfskes
       61 rrrhrhrghk hhhrrrkdke sdkedgresp sydtpsqrvq filgteddde ehiphdlfte
      121 mdelcyrdge eyewketarw lkfeedvedg gdrwskpyva tlslhslfel rscilngtvm
      181 ldmrastlde iadmvldnmi asgqldesir envreallkr hhhqnekrft sriplvrsfa
      241 digkkhsdph llerngegls asrhslrtgl sasnlslrge splslllghl lpssragtpa
      301 gsrcttpvpt pqnsppssps isrltsrssq esqrqapell vspasddipt vvihppeedl
      361 eaalkgeeqk neenvdltpg ilaspqsapg nldnsksgei kgngsggsre nstvdfskvd
      421 mnfmrkiptg aeasnvlvge vdflerpiia fvrlapavll tgltevpvpt rflflllgpa
      481 gkapqyheig rsiatlmtde ifhdvaykak drndllsgid efldqvtvlp pgewdpsiri
      541 eppksvpsqe krkipvfhng stptlgetpk eaahhagpel qrtgrlfggl ildikrkapf
      601 flsdfkdals lqclasilfl ycacmspvit fggllgeate grisaieslf gasltgiays
      661 lfagqpltil gstgpvlvfe kilykfcrdy qlsylslrts iglwtsflci vlvatdassl
      721 vcyitrftee afaaliciif iyealeklfd lgetyafnmh nnldkltsys cvcteppnps
      781 netlaqwkkd nitahniswr nltvseckkl rgvflgsacg hhgpyipdvl fwcvilfftt
      841 fflssflkqf ktkryfptkv rstisdfavf ltivimvtid ylvgvpspkl hvpekfepth
      901 pergwiispl gdnpwwtlli aaipallcti lifmdqqita viinrkehkl kkgagyhldl
      961 lmvgvmlgvc svmglpwfva atvlsishvn slkvesecsa pgeqpkflgi reqrvtglmi
     1021 filmglsvfm tsvlkfipmp vlygvflymg vsslkgiqlf driklfgmpa khqpdliylr
     1081 yvplwkvhif tviqltclvl lwvikvsaaa vvfpmmvlal vfvrklmdlc ftkrelswld
     1141 dlmpeskkkk eddkkkkeke eaermlqddd dtvhlpfegg sllqipvkal kysvdpsivn
     1201 isdemaktaq wkalsmnten akvtrsnmsp dkpvsvkisf edeprkkyvd aetsl
//
LOCUS       XP_011529974             179 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C4orf45 isoform X2 [Homo sapiens].
ACCESSION   XP_011529974
VERSION     XP_011529974.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011531672.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..179
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..179
                     /product="uncharacterized protein C4orf45 isoform X2"
                     /calculated_mol_wt=20904
     Region          15..126
                     /region_name="DUF4562"
                     /note="Domain of unknown function (DUF4562); pfam15123"
                     /db_xref="CDD:434478"
     CDS             1..179
                     /gene="C4orf45"
                     /coded_by="XM_011531672.4:251..790"
                     /db_xref="GeneID:152940"
                     /db_xref="HGNC:HGNC:26342"
ORIGIN      
        1 mswgthsshv cwlsgpdyik dylpkihqht syvgeqhlal ektgdlrylw rpasnrslpa
       61 kykheyvsei gwripqynfi nksrlgsgfh ikyeelsqas ldsithryqn pwqpkphvld
      121 mqgkqsrasf awhmsafedt dqrnskwail vrqcksslpr askppklpkl pkkekkrkh
//
LOCUS       XP_047305711             441 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane anterior posterior transformation protein 1 homolog
            isoform X3 [Homo sapiens].
ACCESSION   XP_047305711
VERSION     XP_047305711.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449755.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..441
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..441
                     /product="transmembrane anterior posterior transformation
                     protein 1 homolog isoform X3"
                     /calculated_mol_wt=50492
     Region          29..333
                     /region_name="DUF747"
                     /note="Eukaryotic membrane protein family; pfam05346"
                     /db_xref="CDD:398815"
     CDS             1..441
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /coded_by="XM_047449755.1:698..2023"
                     /db_xref="GeneID:202018"
                     /db_xref="HGNC:HGNC:26887"
                     /db_xref="MIM:612758"
ORIGIN      
        1 mrpsiqkeek eytlvceyqe nwkrdrrllq paqvcdilkg vilvicyfmm hyvdysmmyh
       61 lirgqsvikl yiiynmleva drlfssfgqd ildalywtat epkerkrahi gviphffmav
      121 lyvflhaili mvqattlnva fnshnksllt immsnnfvei kgsvfkkfek nnlfqmsnsd
      181 ikerftnyvl llivclrnme qfswnpdhlw vlfpdvcmvi aseiavdivk hafitkfndi
      241 tadvyseyra slafdlvssr qknaytdysd svarrmgfip lplavllirv vtssikvqgi
      301 lsyacvilfy fglislkvln sivllgkscq yvkeakmeek lsnppatctp gkpssksqnk
      361 ckpsqglste enlsasitkq pihqkeniip llvtsnsdqf lttpdgdekd itqdnselkh
      421 rsskkdllei drfticgnri d
//
LOCUS       XP_047306050             339 aa            linear   PRI 20-MAR-2023
DEFINITION  protein YIPF7 isoform X1 [Homo sapiens].
ACCESSION   XP_047306050
VERSION     XP_047306050.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047450094.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..339
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..339
                     /product="protein YIPF7 isoform X1"
                     /calculated_mol_wt=36516
     Region          132..339
                     /region_name="Yip1"
                     /note="Yip1 domain; cl21557"
                     /db_xref="CDD:451309"
     CDS             1..339
                     /gene="YIPF7"
                     /gene_synonym="FinGER9"
                     /coded_by="XM_047450094.1:1618..2637"
                     /db_xref="GeneID:285525"
                     /db_xref="HGNC:HGNC:26825"
                     /db_xref="MIM:619754"
ORIGIN      
        1 msvastgmtr pagdlkighl flshlvvtvs pcglpiqplq hhnlrmsnla qfdsdfyqsn
       61 ftidnqeqsg ndsnaygnly gsrklnrkhg dscswgghre lllmvegtga sshragagsr
      121 erqqageqpq pasfvpseml mssgyagqff qpasnsdyys qspyidsfde epplleelgi
      181 hfdhiwqktl tvlnpmkpvd gsimnetdlt gpilfcvalg atlllagkvq fgyvygmsai
      241 gclvihalln lmsssgvsyg cvasvlgycl lpmvilsgca mffslqgifg imsslviigw
      301 cslsaskifi aalhmegqql lvaypcaily glfalltif
//
LOCUS       XP_047273189             698 aa            linear   PRI 20-MAR-2023
DEFINITION  methionine synthase reductase isoform X1 [Homo sapiens].
ACCESSION   XP_047273189
VERSION     XP_047273189.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417233.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..698
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..698
                     /product="methionine synthase reductase isoform X1"
                     /calculated_mol_wt=77543
     Region          6..142
                     /region_name="Flavodoxin_1"
                     /note="pfam00258"
                     /db_xref="CDD:425562"
     Region          277..697
                     /region_name="methionine_synthase_red"
                     /note="Human methionine synthase reductase (MSR) restores
                     methionine sythase which is responsible for the
                     regeneration of methionine from homocysteine, as well as
                     the coversion of methyltetrahydrofolate to
                     tetrahydrofolate. In MSR, electrons are transferred...;
                     cd06203"
                     /db_xref="CDD:99800"
     Site            order(451..454,469..470,487..490,525,697)
                     /site_type="other"
                     /note="FAD binding pocket [chemical binding]"
                     /db_xref="CDD:99800"
     Site            order(451,453..454)
                     /site_type="other"
                     /note="FAD binding motif [chemical binding]"
                     /db_xref="CDD:99800"
     Site            order(454,650,695,697)
                     /site_type="active"
                     /note="catalytic residues [active]"
                     /db_xref="CDD:99800"
     Site            order(471..474,545,547,580..581,610..611,624,626,656)
                     /site_type="other"
                     /note="NAD binding pocket [chemical binding]"
                     /db_xref="CDD:99800"
     Site            order(487,490,493)
                     /site_type="other"
                     /note="phosphate binding motif [ion binding]"
                     /db_xref="CDD:99800"
     Site            order(542,546..549,551)
                     /site_type="other"
                     /note="beta-alpha-beta structure motif"
                     /db_xref="CDD:99800"
     CDS             1..698
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /coded_by="XM_047417233.1:1285..3381"
                     /db_xref="GeneID:4552"
                     /db_xref="HGNC:HGNC:7473"
                     /db_xref="MIM:602568"
ORIGIN      
        1 mrrflllyat qqgqakaiae eiceqavvhg fsadlhcise sdkydlktet aplvvvvstt
       61 gtgdppdtar kfvkeiqnqt lpvdffahlr ygllglgdse ytyfcnggki idkrlqelga
      121 rhfydtghad dcvglelvve pwiaglwpal rkhfrssrgq eeisgalpva spassrtdlv
      181 ksellhiesq vellrfddsg rkdsevlkqn avnsnqsnvv iedfessltr svpplsqasl
      241 nipglppeyl qvhlqeslgq eesqvsvtsa dpvfqvpisk avqlttndai kttllveldi
      301 sntdfsyqpg dafsvicpns dsevqsllqr lqledkrehc vllkikadtk kkgatlpqhi
      361 pagcslqfif twcleiraip kkaflralvd ytsdsaekrr lqelcskqga adysrfvrda
      421 caclldllla fpscqpplsl llehlpklqp rpyscasssl fhpgklhfvf niveflstat
      481 tevlrkgvct gwlallvasv lqpnihashe dsgkalapki sisprttnsf hlpddpsipi
      541 imvgpgtgia pfigflqhre klqeqhpdgn fgamwlffgc rhkdrdylfr kelrhflkhg
      601 ilthlkvsfs rdapvgeeea pakyvqdniq lhgqqvaril lqenghiyvc gdaknmakdv
      661 hdalvqiisk evgvekleam ktlatlkeek rylqdiws
//
LOCUS       XP_047273733             600 aa            linear   PRI 20-MAR-2023
DEFINITION  RUN and FYVE domain-containing protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047273733
VERSION     XP_047273733.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417777.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..600
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..600
                     /product="RUN and FYVE domain-containing protein 1 isoform
                     X2"
                     /calculated_mol_wt=68947
     Region          4..159
                     /region_name="RUN_RUFY1"
                     /note="RUN domain found in RUN and FYVE domain-containing
                     protein 1 (RUFY1) and similar proteins; cd17694"
                     /db_xref="CDD:439056"
     Region          <265..>521
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          526..596
                     /region_name="FYVE_RUFY1"
                     /note="FYVE domain found in RUN and FYVE domain-containing
                     protein 1 (RUFY1) and similar proteins; cd15758"
                     /db_xref="CDD:277297"
     Site            order(531,534,552..557,559..560,582..584)
                     /site_type="other"
                     /note="putative phosphatidylinositol 3-phosphate binding
                     site [chemical binding]"
                     /db_xref="CDD:277297"
     CDS             1..600
                     /gene="RUFY1"
                     /gene_synonym="RABIP4; ZFYVE12"
                     /coded_by="XM_047417777.1:152..1954"
                     /db_xref="GeneID:80230"
                     /db_xref="HGNC:HGNC:19760"
                     /db_xref="MIM:610327"
ORIGIN      
        1 mmeeranlmh mmklsikvll qsalslgrsl dadhaplqqf fvvmehclkh glkvkksfig
       61 qnksffgple lveklcpeas diatsvrnlp elktavgrgr awlylalmqk kladylkvli
      121 dnkhllsefy epealmmeee gmvivgllvg lnvldanlcl kgedldsqvg vidfslylkd
      181 vqdldggkeh eritdvldqk nyveelnrhl sctvgdlqtk idglektnsk lqeelsaatd
      241 ricslqeeqq qlreqnelir erseksveit kqdtkvelet ykqtrqglde mysdvwkqlk
      301 eekkvrlele kelelqigmk temeiamkll ekdthekqdt lvalrqqlee vkainlqmfh
      361 kaqnaesslq qkneaitsfe gktnqvmssm kqmeerlqhs erarqgaeer shklqqelgg
      421 rigalqlqls qlheqcssle kelksekeqr qalqrelqhe kdtssllrme lqqveglkke
      481 lrelqdekae lqkiceeqeq alqemglhls qsklkmedik evnqalkgha wlkddeathc
      541 rqcekefsis rrkhhcrncg hifcntcssn elalpsypkp vrvcdschtl llqrcsstas
//
LOCUS       XP_047273793             449 aa            linear   PRI 20-MAR-2023
DEFINITION  5-phosphohydroxy-L-lysine phospho-lyase isoform X5 [Homo sapiens].
ACCESSION   XP_047273793
VERSION     XP_047273793.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417837.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..449
                     /product="5-phosphohydroxy-L-lysine phospho-lyase isoform
                     X5"
                     /calculated_mol_wt=49222
     Region          <48..432
                     /region_name="PRK06148"
                     /note="hypothetical protein; Provisional"
                     /db_xref="CDD:180426"
     CDS             1..449
                     /gene="PHYKPL"
                     /gene_synonym="AGXT2L2; PHLU"
                     /coded_by="XM_047417837.1:980..2329"
                     /db_xref="GeneID:85007"
                     /db_xref="HGNC:HGNC:28249"
                     /db_xref="MIM:614683"
ORIGIN      
        1 mgrgshlfsg sgrltrthae mskeateaen afrnnpkfqr lvtpsascfa ttcgverqvg
       61 hchplvvqaa heqnqvlntn srylhdnivd yaqrlsetlp eqlcvfyfln sgseandlal
      121 rlarhytghq dvvvldhayh ghlsslidis pykfrnldgq kewvhvaplp dtyrgpyred
      181 hpnpamayan evkrvvssaq ekgrkiaaff aeslpsvggq iippagyfsq vaehirkagg
      241 vfvadeiqvg fgrvgkhfwa fqlqgkdfvp divtmgksig nghpvacvaa tqpvarafea
      301 tgveyfntfg gspvscavgl avlnvlekeq lqdhatsvgs flmqllgqqk ikhpivgdvr
      361 gvglfigvdl ikdeatrtpa teeaaylvsr lkenyvllst dgpgrnilkf kppmcfsldn
      421 arqvvaklda iltdmeekvr scetlrlqp
//
LOCUS       XP_011512963             952 aa            linear   PRI 20-MAR-2023
DEFINITION  peroxisome biogenesis factor 6 isoform X1 [Homo sapiens].
ACCESSION   XP_011512963
VERSION     XP_011512963.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514661.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..952
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..952
                     /product="peroxisome biogenesis factor 6 isoform X1"
                     /calculated_mol_wt=100943
     Region          <438..949
                     /region_name="CDC48"
                     /note="AAA family ATPase, CDC48 subfamily; TIGR01243"
                     /db_xref="CDD:273521"
     CDS             1..952
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /coded_by="XM_011514661.3:32..2890"
                     /db_xref="GeneID:5190"
                     /db_xref="HGNC:HGNC:8859"
                     /db_xref="MIM:601498"
ORIGIN      
        1 malavlrvle pfptetppla vllppggpwp aaelglvlal rpagespagp allvaalegp
       61 dagteeqgpg ppqllvsral lrllalgsga wvraravrrp palgwallgt slgpglgprv
      121 gpllvrrget lpvpgprvle trpalqgllg pgtrlavtel rgrarlcpes gdssrppppp
      181 vvssfavsgt vrrlqgvlgg tgdslgvsrs clrglglfqg ewvwvaqare ssntsqphla
      241 rvqvleprwd lsdrlgpgsg plgepladgl alvpatlafn lgcdplemge lriqrylegs
      301 iapedkgscs llpgppfare lhieivssph ystngnydgv lyrhfqiprw remffkvkkt
      361 vgeapdgpas ayladtthts lymvgstlsp vpwlpseest lwsslsppgl ealvselcav
      421 lkprlqpgga lltgtssvll rgppgcgktt vvaaacshlg lhllkvpcss lcaessgave
      481 tklqaifsra rrcrpavlll tavdllgrdr dglgedarvm avlrhlllne dplnscpplm
      541 vvattsraqd lpadvqtafp helevpalse gqrlsilral tahlplgqev nlaqlarrca
      601 gfvvgdlyal lthssraact riknsglagg lteedegelc aagfpllaed fgqaleqlqt
      661 ahsqavgapk ipsvswhdvg glqevkkeil etiqlplehp ellslglrrs glllhgppgt
      721 gktllakava tecsltflsv kgpelinmyv gqseenvrev fararaaapc iiffdeldsl
      781 apsrgrsgds ggvmdrvvsq llaeldglhs tqdvfvigat nrpdlldpal lrpgrfdklv
      841 fvganedras qlrvlsaitr kfklepsvsl vnvldccppq ltgadlyslc sdamtaalkr
      901 rvhdleegle pgssalmltm edllqaaarl qpsvseqell rykriqrkfa ac
//
LOCUS       XP_016866462             441 aa            linear   PRI 20-MAR-2023
DEFINITION  peroxisome proliferator-activated receptor delta isoform X1 [Homo
            sapiens].
ACCESSION   XP_016866462
VERSION     XP_016866462.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017010973.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..441
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..441
                     /product="peroxisome proliferator-activated receptor delta
                     isoform X1"
                     /calculated_mol_wt=49773
     Region          73..156
                     /region_name="NR_DBD_Ppar"
                     /note="DNA-binding domain of peroxisome
                     proliferator-activated receptors (PPAR) is composed of two
                     C4-type zinc fingers; cd06965"
                     /db_xref="CDD:143523"
     Site            order(74,77,91,94,110,115,125,128)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143523"
     Site            order(82..86,92..93,95,97,99..100,103,122..123,126,129,
                     140,143..147,149)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143523"
     Site            order(120..121,123..124)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143523"
     Region          173..440
                     /region_name="NR_LBD_PPAR"
                     /note="The ligand binding domain of peroxisome
                     proliferator-activated receptors; cd06932"
                     /db_xref="CDD:132730"
     Site            order(248..249,253,287,291,294,303,305,328,413)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:132730"
     Site            order(258,261,265,270,275..276,278..279,282..283)
                     /site_type="other"
                     /note="coactivator recognition site [polypeptide binding]"
                     /db_xref="CDD:132730"
     Site            order(337,359,362,371,394,398,401,403..404,407..408,415)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:132730"
     CDS             1..441
                     /gene="PPARD"
                     /gene_synonym="FAAR; NR1C2; NUC1; NUCI; NUCII; PPARB"
                     /coded_by="XM_017010973.2:535..1860"
                     /db_xref="GeneID:5467"
                     /db_xref="HGNC:HGNC:9235"
                     /db_xref="MIM:600409"
ORIGIN      
        1 meqpqeeape vreeeekeev aeaegapeln ggpqhalpss sytdlsrsss ppslldqlqm
       61 gcdgascgsl nmecrvcgdk asgfhygvha cegckgffrr tirmkleyek cersckiqkk
      121 nrnkcqycrf qkclalgmsh nairfgrmpe aekrklvagl tanegsqynp qvadlkafsk
      181 hiynaylknf nmtkkkarsi ltgkashtap fvihdietlw qaekglvwkq lvnglppyke
      241 isvhvfyrcq cttvetvrel tefaksipsf sslflndqvt llkygvheai famlasivnk
      301 dgllvangsg fvtreflrsl rkpfsdiiep kfefavkfna lelddsdlal fiaaiilcgd
      361 rpglmnvprv eaiqdtilra lefhlqanhp daqylfpkll qkmadlrqlv tehaqmmqri
      421 kktetetslh pllqeiykdm y
//
LOCUS       XP_011534227             492 aa            linear   PRI 20-MAR-2023
DEFINITION  prolyl endopeptidase isoform X1 [Homo sapiens].
ACCESSION   XP_011534227
VERSION     XP_011534227.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011535925.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..492
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..492
                     /product="prolyl endopeptidase isoform X1"
                     /calculated_mol_wt=56746
     Region          7..423
                     /region_name="Peptidase_S9_N"
                     /note="Prolyl oligopeptidase, N-terminal beta-propeller
                     domain; pfam02897"
                     /db_xref="CDD:397164"
     CDS             1..492
                     /gene="PREP"
                     /gene_synonym="PE; PEP"
                     /coded_by="XM_011535925.4:192..1670"
                     /db_xref="GeneID:5550"
                     /db_xref="HGNC:HGNC:9358"
                     /db_xref="MIM:600400"
ORIGIN      
        1 mlslqypdvy rdetavqdyh ghkicdpyaw ledpdseqtk afveaqnkit vpfleqcpir
       61 glykermtel ydypkyschf kkgkryfyfy ntglqnqrvl yvqdslegea rvfldpnils
      121 ddgtvalrgy afsedgeyfa yglsasgsdw vtikfmkvdg akelpdvler vkfscmawth
      181 dgkgmfynsy pqqdgksdgt etstnlhqkl yyhvlgtdqs edilcaefpd epkwmggael
      241 sddgryvlls iregcdpvnr lwycdlqqes sgiagilkwv klidnfegey dyvtnegtvf
      301 tfktnrqspn yrvinidfrd peeskwkvlv pehekdvlew iacvrsnflv lcylhdvkni
      361 lqlhdlttga llktfpldvg sivgysgqkk dteifyqfts flspgiiyhc dltkeelepr
      421 vfrevtvkgi dasdyqtvqi prflkteglk qpcveqvcyh hfpnsmcsvr vchiliiltm
      481 fqafsllhhs el
//
LOCUS       XP_047275519             412 aa            linear   PRI 20-MAR-2023
DEFINITION  chromodomain Y-like protein isoform X1 [Homo sapiens].
ACCESSION   XP_047275519
VERSION     XP_047275519.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419563.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..412
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..412
                     /product="chromodomain Y-like protein isoform X1"
                     /calculated_mol_wt=45004
     Region          158..354
                     /region_name="crotonase-like"
                     /note="Crotonase/Enoyl-Coenzyme A (CoA) hydratase
                     superfamily. This superfamily contains a diverse set of
                     enzymes including enoyl-CoA hydratase, napthoate synthase,
                     methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA
                     dehydratase, and dienoyl-CoA isomerase; cd06558"
                     /db_xref="CDD:119339"
     Site            order(178,180,211,215..219,262,264..266,288..289,292)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:119339"
     Site            order(217,266)
                     /site_type="active"
                     /note="oxyanion hole (OAH) forming residues [active]"
                     /db_xref="CDD:119339"
     Site            order(246,254,275..278,290..293,299,301..303,305..306,
                     311..312,314..315,317..318,321,332,335,350,353..354)
                     /site_type="other"
                     /note="trimer interface [polypeptide binding]"
                     /db_xref="CDD:119339"
     CDS             1..412
                     /gene="CDYL"
                     /gene_synonym="CDYL1"
                     /coded_by="XM_047419563.1:397..1635"
                     /db_xref="GeneID:9425"
                     /db_xref="HGNC:HGNC:1811"
                     /db_xref="MIM:603778"
ORIGIN      
        1 mdlaksgiki lvpkspvksr tavdgfqses pekldpveqg qedtvapeva aekpvgallg
       61 pgaerarmgs rprihplvpq vpgpvtaama tglavngkgt spfmdaltan gttniqtsvt
      121 gvtaskrkfi ddrrdqpfdk rlrfsvrqte sayryrdivv rkqdgfthil lstkssenns
      181 lnpevmrevq salstaaadd sklvllsavg svfccgldfi yfirrltddr krestkmaea
      241 irnfvntfiq fkkpiivavn gpaiglgasi lplcdvvwan ekawfqtpyt tfgqspdgcs
      301 tvmfpkimgg asanemllsg rkltaqeacg kglvsqvfwp gtftqevmvr ikelascnpv
      361 vleeskalvr cnmkmeleqa nerecevlkk iwgsaqgmds mlkylqrkid ef
//
LOCUS       XP_047275661             624 aa            linear   PRI 20-MAR-2023
DEFINITION  ras GTPase-activating protein 4 isoform X6 [Homo sapiens].
ACCESSION   XP_047275661
VERSION     XP_047275661.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419705.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..624
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..624
                     /product="ras GTPase-activating protein 4 isoform X6"
                     /calculated_mol_wt=68780
     Region          6..126
                     /region_name="C2A_Rasal1_RasA4"
                     /note="C2 domain first repeat present in RasA1 and RasA4;
                     cd04054"
                     /db_xref="CDD:176018"
     Site            order(21,27,74,76,82)
                     /site_type="other"
                     /note="Ca2+ binding pocket [ion binding]"
                     /db_xref="CDD:176018"
     Region          134..257
                     /region_name="C2B_RasA1_RasA4"
                     /note="C2 domain second repeat present in RasA1 and RasA4;
                     cd04025"
                     /db_xref="CDD:175991"
     Site            order(149,155,202,204,210)
                     /site_type="other"
                     /note="Ca2+ binding pocket [ion binding]"
                     /db_xref="CDD:175991"
     Region          265..>394
                     /region_name="RasGAP"
                     /note="Ras GTPase Activating Domain; cl02569"
                     /db_xref="CDD:445837"
     Region          <406..617
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     CDS             1..624
                     /gene="RASA4"
                     /gene_synonym="CAPRI; GAPL"
                     /coded_by="XM_047419705.1:70..1944"
                     /db_xref="GeneID:10156"
                     /db_xref="HGNC:HGNC:23181"
                     /db_xref="MIM:607943"
ORIGIN      
        1 makrsslyir ivegknlpak ditgssdpyc ivkvdnepii rtatvwktlc pfwgeeyqvh
       61 lpptfhavaf yvmdedalsr ddvigkvclt rdtiashpkg fsgwahltev dpdeevqgei
      121 hlrlevwpga racrlrcsvl eardlapkdr ngtsdpfvrv rykgrtrets ivkkscyprw
      181 netfefelqe gamealcvea wdwdlvsrnd flgkvvidvq rlrvvqqeeg wfrlqpdqsk
      241 srrhdegnlg slqlevrlrd etvlpssyyq plvhllchev klgmqgpgql iplieettst
      301 ecrqdvatnl lklflgqgla kdfldllfql elsrtsetnt lfrsnslask smesflkvag
      361 mqylhgvlgp iinkvfeekk yveldpskve vkdvlraapp adrgrgagae radaarppgg
      421 paeraqplgs rvprrgarhl ppalparara lprrparect vhrrhqlpvp alllsrhhva
      481 qalppagapr grphqphpap vgqgspergq hghagfqgqg gldgaaaahr apgrgaaegl
      541 hhqarghrge gragpaadae fagatcegga tlhpqdqgqg pphvlllqea lllphyrgpq
      601 lredaqlqek rphqvsqhpg sgkg
//
LOCUS       XP_047275815             575 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase DTX2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047275815
VERSION     XP_047275815.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419859.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..575
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..575
                     /product="probable E3 ubiquitin-protein ligase DTX2
                     isoform X2"
                     /calculated_mol_wt=62214
     Region          21..105
                     /region_name="WWE"
                     /note="Domain in Deltex and TRIP12 homologues. Possibly
                     involved in regulation of ubiquitin-mediated proteolysis;
                     smart00678"
                     /db_xref="CDD:128922"
     Region          110..181
                     /region_name="WWE"
                     /note="Domain in Deltex and TRIP12 homologues. Possibly
                     involved in regulation of ubiquitin-mediated proteolysis;
                     smart00678"
                     /db_xref="CDD:128922"
     Region          364..435
                     /region_name="RING-H2_DTX2"
                     /note="RING finger, H2 subclass, found in E3
                     ubiquitin-protein ligase Deltex2 (DTX2) and similar
                     proteins; cd16672"
                     /db_xref="CDD:438334"
     Region          433..567
                     /region_name="DTC"
                     /note="Deltex C-terminal domain; pfam18102"
                     /db_xref="CDD:436275"
     Site            order(442..446,448,460,462,464..466,487..489,491,525,
                     538..539,547)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:193607"
     CDS             1..575
                     /gene="DTX2"
                     /gene_synonym="RNF58"
                     /coded_by="XM_047419859.1:274..2001"
                     /db_xref="GeneID:113878"
                     /db_xref="HGNC:HGNC:15973"
                     /db_xref="MIM:613141"
ORIGIN      
        1 mamapspslv qvytspaava vwewqdglgt whpysatvcs fieqqfvqqk gqrfglgsla
       61 hsiplgqadp slapyiidlp swtqfrqdtg tmravrrhlf pqhsapgrgv vwewlsddgs
      121 wtayeasvcd yleqqvargn qlvdlaplgy nytvnyttht qtnktssfcr svrrqagppy
      181 pvttiiappg htgvacschq clsgsrtgpv sgryrhsmtn lpaypvpqhp phrtasvfgt
      241 hqafapynkp slsgarsapr lnttnawgaa ppslgsqply rsslshlgpq hlppgsstsg
      301 avsaslpsgp ssspgsvpat vpmqmpkpsr vqqalagatp kpepepeqvi knyteelkvp
      361 pdedciicme klstasgysd vtdskaigsl avghltkcsh afhllcllam ycngnkdgsl
      421 qcpscktiyg ektgtqpqgk mevlrfqmsl pghedcgtil ivysiphgiq gpehpnpgkp
      481 ftargfprqc ylpdnaqgrk vlellkvawk rrliftvgts sttgetdtvv wneihhktem
      541 drnitghgyp dpnylqnvla elaaqgvted cleqq
//
LOCUS       XP_047275817             622 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase DTX2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047275817
VERSION     XP_047275817.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419861.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..622
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..622
                     /product="probable E3 ubiquitin-protein ligase DTX2
                     isoform X1"
                     /calculated_mol_wt=67115
     Region          21..105
                     /region_name="WWE"
                     /note="Domain in Deltex and TRIP12 homologues. Possibly
                     involved in regulation of ubiquitin-mediated proteolysis;
                     smart00678"
                     /db_xref="CDD:128922"
     Region          110..181
                     /region_name="WWE"
                     /note="Domain in Deltex and TRIP12 homologues. Possibly
                     involved in regulation of ubiquitin-mediated proteolysis;
                     smart00678"
                     /db_xref="CDD:128922"
     Region          <166..394
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          411..482
                     /region_name="RING-H2_DTX2"
                     /note="RING finger, H2 subclass, found in E3
                     ubiquitin-protein ligase Deltex2 (DTX2) and similar
                     proteins; cd16672"
                     /db_xref="CDD:438334"
     Site            order(412,415,445,447,450,453,469,472)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:438334"
     Region          480..614
                     /region_name="DTC"
                     /note="Deltex C-terminal domain; pfam18102"
                     /db_xref="CDD:436275"
     Site            order(489..493,495,507,509,511..513,534..536,538,572,
                     585..586,594)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:193607"
     CDS             1..622
                     /gene="DTX2"
                     /gene_synonym="RNF58"
                     /coded_by="XM_047419861.1:394..2262"
                     /db_xref="GeneID:113878"
                     /db_xref="HGNC:HGNC:15973"
                     /db_xref="MIM:613141"
ORIGIN      
        1 mamapspslv qvytspaava vwewqdglgt whpysatvcs fieqqfvqqk gqrfglgsla
       61 hsiplgqadp slapyiidlp swtqfrqdtg tmravrrhlf pqhsapgrgv vwewlsddgs
      121 wtayeasvcd yleqqvargn qlvdlaplgy nytvnyttht qtnktssfcr svrrqagppy
      181 pvttiiappg htgvacschq clsgsrtgpv sgryrhsmtn lpaypvpqhp phrtasvfgt
      241 hqafapynkp slsgarsapr lnttnawgaa ppslgsqply rsslshlgpq hlppgsstsg
      301 avsaslpsgp ssspgsvpat vpmqmpkpsr vqqalagmts vlmsaiglpv clsrapqpts
      361 ppasrlasks hgsvkrlrkm svkgatpkpe pepeqvikny teelkvppde dciicmekls
      421 tasgysdvtd skaigslavg hltkcshafh llcllamycn gnkdgslqcp scktiygekt
      481 gtqpqgkmev lrfqmslpgh edcgtilivy siphgiqgpe hpnpgkpfta rgfprqcylp
      541 dnaqgrkvle llkvawkrrl iftvgtsstt getdtvvwne ihhktemdrn itghgypdpn
      601 ylqnvlaela aqgvtedcle qq
//
LOCUS       XP_016867303             696 aa            linear   PRI 20-MAR-2023
DEFINITION  elastin isoform X20 [Homo sapiens].
ACCESSION   XP_016867303
VERSION     XP_016867303.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017011814.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..696
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..696
                     /product="elastin isoform X20"
                     /calculated_mol_wt=59832
     CDS             1..696
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /coded_by="XM_017011814.3:16..2106"
                     /db_xref="GeneID:2006"
                     /db_xref="HGNC:HGNC:3327"
                     /db_xref="MIM:130160"
ORIGIN      
        1 magltaaapr pgvlllllsi lhpsrpggvp gaipggvpgg vfypgaglga lgggalgpgg
       61 kplkpvpggl agaglgaglg afpavtfpga lvpggvadaa aaykaakaga glggvpgvgg
      121 lgvsaapsvp gavvpqpgag vkpgkvpgvg lpgvypggvl pgarfpgvgv lpgvptgagv
      181 kpkapgvgga fagipgvgpf ggpqpgvplg ypikapklpg ygpggvagaa gkagyptgtg
      241 vgpqaaaaaa akaaakfgag aagvlpgvgg agvpgvpgai pgiggiagvg tpaaaaaaaa
      301 aakaakygaa aglvpggpgf gpgvvgvpga gvpgvgvpga gipvvpgagi pgaavpgvvs
      361 peaaakaaak aakygarpgv gvggiptygv gaggfpgfgv gvggipgvag vpgvggvpgv
      421 ggvpgvgisp eaqaaaaaka akyglvpgvg vapgvgvapg vgvapgvgla pgvgvapgvg
      481 vapgvgvapg igpggvaaaa ksaakvaaka qlraaaglga gipglgvgvg vpglgvgagv
      541 pglgvgagvp gfgavpgala aakaakygaa vpgvlgglga lggvgipggv vgagpaaaaa
      601 aakaaakaaq fglvgaaglg glgvgglgvp gvgglggipp aaaakaakyg aaglggvlgg
      661 agqfplggva arpgfglspi fpggaclgka cgrkrk
//
LOCUS       XP_011514305            1236 aa            linear   PRI 20-MAR-2023
DEFINITION  ubinuclein-2 isoform X5 [Homo sapiens].
ACCESSION   XP_011514305
VERSION     XP_011514305.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011516003.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1236
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1236
                     /product="ubinuclein-2 isoform X5"
                     /calculated_mol_wt=134654
     Region          194..245
                     /region_name="HUN"
                     /note="HPC2 and ubinuclein domain; pfam08729"
                     /db_xref="CDD:400875"
     Region          448..662
                     /region_name="UBN_AB"
                     /note="Ubinuclein conserved middle domain; pfam14075"
                     /db_xref="CDD:433696"
     CDS             1..1236
                     /gene="UBN2"
                     /coded_by="XM_011516003.3:249..3959"
                     /db_xref="GeneID:254048"
                     /db_xref="HGNC:HGNC:21931"
                     /db_xref="MIM:613841"
ORIGIN      
        1 maeprrvafi slspvrrrea eypgperepe yprepprlep qpyreparae ppaprepapr
       61 sdaqppsrek plpqrevsra eppmslqrep prpeppppfp plplqppppr esasraeqpp
      121 rppretvrle lvlkdptdes cvefsypell lcgeqrkkli htedpfndeh qerqevemla
      181 kkfemkyggk prkhrkdrlq dlidigfgyd etdpfidnse aydelvpasl ttkyggfyin
      241 tgtlqfrqas dteedditdn qkhkppkvpk ikeddiemkk rkrkeegeke kkprkkvpkq
      301 lgvvalnshk sekkkkrykd slslaamirk fqkekdalkk esnpkvpvtl stpslnkppc
      361 aaaalgndvp dlnlssgdpd lpifvstneh elfqeaenal emlddfdfdr lldaasdgsp
      421 lsesggengt ttqptytsqv mpkvvptlpe glpvllekri edlrvaaklf deegrkkfft
      481 qdmnnilldi elqlqelgpv irsgvyshle afvpcnketl vkrlkklhln vqddrlrepl
      541 qklklavsnv mpeqlfkyqe dcqarsqakc aklqtdeere kngseeddde kpgkrvigpr
      601 kkfhwddtir tllcnlveik lgcyelepnk sqsaedylks fmetevkplw pkgwmqarml
      661 fkesrsvhnh ltsapakkkv ipapkpkvke vmvktlplhs fptmlkecsp kkdqktptsl
      721 vasvsgppts sstaaiaaas sssapaqeti clddsldedl sfhspsldlv sealavinng
      781 nkgppvgsri smpttkprpg lreeklasim sklplatpkk ldstqtthss sliaghtgpv
      841 pkkpqdlaht gissgliags siqnpkvsle plparllqqg lqrssqihts sssqthvsss
      901 sqaqiaassh algtseaqda ssltqvtkvh qhsavqqnyv splqatisks qtnpvvklsn
      961 npqlscsssl iktsdkplmy rlplstpspg ngsqgshplv srtvpsttts snylakamvs
     1021 qistqgfksp fsmaaspkla aspkpatspk plpspkpsas pkpslsakps vstklisksn
     1081 ptpkptvsps ssspnalvaq gshsstnspv hkqpsgmnis rqsptlnllp ssrtsglppt
     1141 knlqapsklt nssstgtvgk nslsgiamnv pasrgsnlns sganrtslsg gtgsgtqgat
     1201 kplstphrps tasgssvvta svqgpclrdv seqfgp
//
LOCUS       XP_005250366             344 aa            linear   PRI 20-MAR-2023
DEFINITION  2-acylglycerol O-acyltransferase 3 isoform X1 [Homo sapiens].
ACCESSION   XP_005250366
VERSION     XP_005250366.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005250309.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..344
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..344
                     /product="2-acylglycerol O-acyltransferase 3 isoform X1"
                     /calculated_mol_wt=38222
     Region          45..290
                     /region_name="LPLAT"
                     /note="Lysophospholipid acyltransferases (LPLATs) of
                     glycerophospholipid biosynthesis; cl17185"
                     /db_xref="CDD:450169"
     Site            order(116,119,121,142..145,193..195)
                     /site_type="active"
                     /note="putative acyl-acceptor binding pocket [active]"
                     /db_xref="CDD:153249"
     CDS             1..344
                     /gene="MOGAT3"
                     /gene_synonym="DC7; DGAT2L2; MGAT3"
                     /coded_by="XM_005250309.4:183..1217"
                     /db_xref="GeneID:346606"
                     /db_xref="HGNC:HGNC:23249"
                     /db_xref="MIM:610184"
ORIGIN      
        1 mgvattlqpp ttsktlqkqh leavgayqyv ltflfmgpff sllvfvllft slwpfsvfyl
       61 vwlyvdwdtp nqggrrsewi rnraiwrqlr dyypvklvkt aelppdrnyv lgahphgimc
      121 tgflcnfste sngfsqlfpg lrpwlavlag lfylpvyrdy imsfglcpvs rqsldfilsq
      181 pqlgqavvim vggahealys vpgehcltlq krkgfvrlal rhgaslvpvy sfgendifrl
      241 kafatgswqh wcqltfkklm gfspcifwgr glfsatswgl lpfavpittv gecpppggrp
      301 paaawasgip rppvslslqw aapspspsas tpprrksiti tpst
//
LOCUS       XP_047276433             917 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylcholine translocator ABCB4 isoform X5 [Homo sapiens].
ACCESSION   XP_047276433
VERSION     XP_047276433.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420477.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..917
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..917
                     /product="phosphatidylcholine translocator ABCB4 isoform
                     X5"
                     /calculated_mol_wt=100538
     Region          111..634
                     /region_name="MdlB"
                     /note="ABC-type multidrug transport system, ATPase and
                     permease component [Defense mechanisms]; COG1132"
                     /db_xref="CDD:224055"
     Region          395..631
                     /region_name="ABC_MTABC3_MDL1_MDL2"
                     /note="ATP-binding cassette domain of a mitochondrial
                     protein MTABC3 and related proteins; cd03249"
                     /db_xref="CDD:213216"
     Site            429..436
                     /site_type="other"
                     /note="Walker A/P-loop"
                     /db_xref="CDD:213216"
     Site            order(432..433,435..437,477,557..558,589)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:213216"
     Site            474..477
                     /site_type="other"
                     /note="Q-loop/lid"
                     /db_xref="CDD:213216"
     Site            533..542
                     /site_type="other"
                     /note="ABC transporter signature motif"
                     /db_xref="CDD:213216"
     Site            553..558
                     /site_type="other"
                     /note="Walker B"
                     /db_xref="CDD:213216"
     Site            561..564
                     /site_type="other"
                     /note="D-loop"
                     /db_xref="CDD:213216"
     Site            585..591
                     /site_type="other"
                     /note="H-loop/switch region"
                     /db_xref="CDD:213216"
     Region          701..>894
                     /region_name="ABC_6TM_Pgp_ABCB1_D2_like"
                     /note="Six-transmembrane helical domain 2 (TMD2) of
                     P-glycoprotein 1 (Pgp) and related proteins; cd18578"
                     /db_xref="CDD:350022"
     Region          711..734
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:350022"
     Region          750..798
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:350022"
     Region          807..852
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:350022"
     Region          853..894
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:350022"
     CDS             1..917
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /coded_by="XM_047420477.1:264..3017"
                     /db_xref="GeneID:5244"
                     /db_xref="HGNC:HGNC:45"
                     /db_xref="MIM:171060"
ORIGIN      
        1 mdleaakngt awrptsaegd felgisskqk rkktktvkmi gvltlfrysd wqdklfmslg
       61 timaiahgsg lplmmivfge mtdkfvdtag nfsfpvnfsl sllnpgkile eemtryayyy
      121 sglgagvlva ayiqvsfwtl aagrqirkir qkffhailrq eigwfdindt telntrltdd
      181 iskisegigd kvgmffqava tffagfivgf irgwkltlvi maispilgls aavwakilsa
      241 fsdkelaaya kagavaeeal gairtviafg gqnkeleryq khlenakeig ikkaisanis
      301 mgiaflliya syalafwygs tlviskeyti gnamtvffsi ligafsvgqa apcidafana
      361 rgaayvifdi idnnpkidsf serghkpdsi kgnlefndvh fsypsranvk ilkglnlkvq
      421 sgqtvalvgs sgcgksttvq liqrlydpde gtinidgqdi rnfnvnylre iigvvsqepv
      481 lfsttiaeni cygrgnvtmd eikkavkean ayefimklpq kfdtlvgerg aqlsggqkqr
      541 iaiaralvrn pkillldeat saldteseae vqaaldkare grttiviahr lstvrnadvi
      601 agfedgvive qgshselmkk egvyfklvnm qtsgsqiqse efelndekaa trmapngwks
      661 rlfrhstqkn lknsqmcqks ldvetdglea nvppvsflkv lklnktewpy fvvgtvcaia
      721 ngglqpafsv ifseiiaifg pgddavkqqk cnifsliflf lgiisfftff lqgftfgkag
      781 eiltrrlrsm afkamlrqdm swfddhknst galstrlatd aaqvqgatgt rlaliaqnia
      841 nlgtgiiisf iygwqltlll lavvpiiavs givemkllag nakrdkkele aagkgvfcnc
      901 iwcsgsrtcq ficsrlc
//
LOCUS       XP_016868310            1988 aa            linear   PRI 20-MAR-2023
DEFINITION  dedicator of cytokinesis protein 4 isoform X3 [Homo sapiens].
ACCESSION   XP_016868310
VERSION     XP_016868310.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017012821.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1988
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1988
                     /product="dedicator of cytokinesis protein 4 isoform X3"
                     /calculated_mol_wt=227127
     Region          44..96
                     /region_name="SH3_DOCK4_B"
                     /note="Src Homology 3 domain of Class B Dedicator of
                     Cytokinesis 4; cd12049"
                     /db_xref="CDD:212982"
     Site            order(44..47,54,59..61,63,67..68,72..73,75,83,85,87,89,
                     91..92,94,96)
                     /site_type="other"
                     /note="ELMO interaction site [polypeptide binding]"
                     /db_xref="CDD:212982"
     Site            order(46,48,51,55,72..73,89,91..92)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212982"
     Region          100..423
                     /region_name="DOCK_N"
                     /note="DOCK N-terminus; pfam16172"
                     /db_xref="CDD:435187"
     Region          431..615
                     /region_name="C2_Dock-B"
                     /note="C2 domains found in Dedicator Of CytoKinesis (Dock)
                     class B proteins; cd08695"
                     /db_xref="CDD:176077"
     Region          1237..1627
                     /region_name="DHR2_DOCK4"
                     /note="Dock Homology Region 2, a GEF domain, of Class B
                     Dedicator of Cytokinesis 4; cd11705"
                     /db_xref="CDD:212578"
     Site            order(1317,1327,1329..1330,1332..1333,1336..1337,
                     1339..1340,1343..1344)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:212578"
     Site            order(1355,1357,1381,1384..1387,1389..1390,1403..1405,
                     1422..1424,1458..1461,1472..1473,1476,1478,1515..1516,
                     1519,1539..1540,1542..1543,1546..1548,1551..1553,
                     1556..1557,1560,1590,1612,1615)
                     /site_type="other"
                     /note="putative Rac/Cdc42 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:212578"
     Site            1551..1556
                     /site_type="other"
                     /note="nucleotide sensor"
                     /db_xref="CDD:212578"
     CDS             1..1988
                     /gene="DOCK4"
                     /coded_by="XM_017012821.2:567..6533"
                     /db_xref="GeneID:9732"
                     /db_xref="HGNC:HGNC:19192"
                     /db_xref="MIM:607679"
ORIGIN      
        1 mgcvccgaga lvnfnicaar ffglwrrtgi savflllatl stpviasfrg tvpyglslei
       61 gdtvqilekc dgwyrgfalk npnikgifps syvhlknacv knkgqfemvi ptedsvitem
      121 tstlrdwgtm wkqlyvrneg dlfhrlwhim neildlrrqv lvghlthdrm kdvkrhitar
      181 ldwgneqlgl dlvprkeyam vdpedisite lyrlmehrhr kkdtpvqass hhlfvqmksl
      241 mcsnlgeele vifslfdske nrpiserffl rlnrnglpka pdkperhcsl fvdlgsselr
      301 kdiyitvhii rigrmgagek knacsvqyrr pfgcavlsia dlltgetkdd lilkvymcnt
      361 esewyqihen iikklnaryn ltgsnaglav slqllhgdie qirreyssvf shgvsitrkl
      421 gfsniimpge mrndlyitie rgefekggks varnvevtmf ivdssgqtlk dfisfgsgep
      481 paseyhsfvl yhnnsprwse llklpipvdk frgahirfef rhcstkekge kklfgfsfvp
      541 lmqedgrtlp dgthelivhk ceentnlqdt trylklpfsk giflgnnnqa mkatkesfci
      601 tsflcstklt qngdmldllk wrthpdkitg clsklkeidg seivkflqdt ldtlfgilde
      661 nsqkygskvf dslvhiinll qdskfhhfkp vmdtyieshf agalayrdli kvlkwyvdri
      721 teaerqehiq evlkaqeyif kyivqsrrlf slatggqnee efrcciqell msvrfflsqe
      781 skgsgalsqs qavflssfpa vysellklfd vrevanlvqd tlgslptilh vddslqaikl
      841 qcigktvesq lytnpdsryi llpvvlhhlh ihlqeqkdli mcarilsnvf clikknssek
      901 svleeidviv aslldillrt ileitsrpqp sssamrfqfq dvtgefvacl lsllrqmtdr
      961 hyqqlldsfn tkeelrdfll qiftvfrili rpemfpkdwt vmrlvannvi ittvlylsda
     1021 lrknflnenf dykiwdsyfy lavifinqlc lqlemftpsk kkkvlekygd mrvtmgceif
     1081 smwqnlgehk lhfipaligp flevtlipqp dlrnvmipif hdmmdweqrr sgnfkqveak
     1141 lidkldslms egkgdetyre lfnsiiplfg pypsllkkie retwresgvs liatvtrlme
     1201 rlldyrdcmk mgevdgkkig ctvsllnfyk telnkeemyi ryihklydlh lkaqnfteaa
     1261 ytlllydell ewsdrplref ltypmqtewq rkehlhltii qnfdrgkcwe ngiilcrkia
     1321 eqyesyydyr nlskmrmmea slydkimdqq rlepeffrvg fygkkfpffl rnkefvcrgh
     1381 dyerleafqq rmlnefphai amqhanqpde tifqaeaqyl qiyavtpipe sqevlqregv
     1441 pdniksfykv nhiwkfrydr pfhkgtkdke nefkslwver tslylvqslp gisrwfevek
     1501 revvemsple naievlenkn qqlktlisqc qtrqmqninp ltmclngvid aavnggvsry
     1561 qeaffvkeyi lshpedgeki arlrelmleq aqilefglav hekfvpqdmr plhkklvdqf
     1621 fvmksslgiq efsacmqasp vhfpngsprv crnsapasvs pdgtrviprr splsypavnr
     1681 ysssslssqa saepspstss lssthsaspn vtssapssar aspllsdkhk hsrensclsp
     1741 rerpcsaiyp tpvepsqrml fnhigdgalp rsdpnlsape kavnptpssw sldsgkeakn
     1801 msdsgklisp pvpprptqta sparhttsvs pspagrsplk gsvqsftpsp veyhspglis
     1861 nspvlsgsys sgisslsrcs tsetsgfenq vneqsaplpv pvpvpvpsyg geepvrkesk
     1921 tpppysvyer tlrrpvplph slsipvtsep palppkplaa rsshlengar rtdpgprprp
     1981 lprkvsql
//
LOCUS       XP_047277465             365 aa            linear   PRI 20-MAR-2023
DEFINITION  dematin isoform X5 [Homo sapiens].
ACCESSION   XP_047277465
VERSION     XP_047277465.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421509.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..365
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..365
                     /product="dematin isoform X5"
                     /calculated_mol_wt=41427
     Region          7..315
                     /region_name="AbLIM_anchor"
                     /note="Putative adherens-junction anchoring region of
                     AbLIM; pfam16182"
                     /db_xref="CDD:435194"
     Region          330..365
                     /region_name="VHP"
                     /note="Villin headpiece domain; smart00153"
                     /db_xref="CDD:128458"
     CDS             1..365
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /coded_by="XM_047421509.1:375..1472"
                     /db_xref="GeneID:2039"
                     /db_xref="HGNC:HGNC:3382"
                     /db_xref="MIM:125305"
ORIGIN      
        1 merlqkakmd nqvlgykdla aipkdkaild ierpdlmiye phftyslleh velprsrevw
       61 adsrspgiis qasaprttgt prtslphfhh petsrpdsni ykkppiykqr esvggspqtk
      121 hliedliies skfpaaqppd pnqpakietd ywpcppslav vetewrkrka srrgaeeeee
      181 eedddsgeem kalrerqree lskvtsnlgk milkeemeks lpirrktrsl pdrtpfhtsl
      241 hqgtsksssl paygrttlsr lqstefspsg setgspglqn gegqrgrmdr gnslpcvleq
      301 kiypyemlvv tnkgrtklpp gvdrmrlerh lsaedfsrvf amspeefgkl alwkrnelkk
      361 kaslf
//
LOCUS       XP_047277471             919 aa            linear   PRI 20-MAR-2023
DEFINITION  exostosin-like 3 isoform X1 [Homo sapiens].
ACCESSION   XP_047277471
VERSION     XP_047277471.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421515.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..919
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..919
                     /product="exostosin-like 3 isoform X1"
                     /calculated_mol_wt=104619
     Region          <86..>145
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          190..500
                     /region_name="Exostosin"
                     /note="Exostosin family; pfam03016"
                     /db_xref="CDD:397245"
     Region          663..900
                     /region_name="Glyco_transf_64"
                     /note="Glycosyl transferase family 64 domain; pfam09258"
                     /db_xref="CDD:430488"
     CDS             1..919
                     /gene="EXTL3"
                     /gene_synonym="BOTV; EXTL1L; EXTR1; ISDNA; REGR; RPR"
                     /coded_by="XM_047421515.1:693..3452"
                     /db_xref="GeneID:2137"
                     /db_xref="HGNC:HGNC:3518"
                     /db_xref="MIM:605744"
ORIGIN      
        1 mtgytmlrng gagnggqtcm lrwsnrirlt wlsftlfvil vffpliahyy lttldeadea
       61 gkrifgprvg nelcevkhvl dlcriresvs eellqleakr qelnseiakl nlkieackks
      121 ienakqdllq lknvisqteh sykelmaqnq pklslpirll pekddaglpp pkatrgcrlh
      181 ncfdysrcpl tsgfpvyvyd sdqfvfgsyl dplvkqafqa taranvyvte nadiaclyvi
      241 lvgemqepvv lrpaelekql yslphwrtdg hnhviinlsr ksdtqnllyn vstgramvaq
      301 stfytvqyrp gfdlvvsplv hamsepnfme ippqvpvkrk ylftfqgeki eslrsslqea
      361 rsfeeemegd ppadyddrii atlkavqdsk ldqvlveftc knqpkpslpt ewalcgered
      421 rlellklstf aliitpgdpr lvissgcatr lfealevgav pvvlgeqvql pyqdmlqwne
      481 aalvvpkprv tevhfllrsl sdsdllamrr qgrflwetyf stadsifntv lamirtriqi
      541 paapireeaa aeiphrsgka agtdpnmadn gdldlgpvet eppyaspryl rnftltvtdf
      601 yrswncapgp fhlfphtpfd pvlpseakfl gsgtgfrpig ggaggsgkef qaalggnvpr
      661 eqftvvmlty ereevlmnsl erlnglpyln kvvvvwnspk lpsedllwpd igvpimvvrt
      721 eknslnnrfl pwneieteai lsidddahlr hdeimfgfrv wreardrivg fpgryhawdi
      781 phqswlynsn yscelsmvlt gaaffhkyya ylysyvmpqa irdmvdeyin cediamnflv
      841 shitrkppik vtsrwtfrcp gcpqalshdd shfherhkci nffvkvygym pllytqfrvd
      901 svlfktrlph dktkcfkfi
//
LOCUS       XP_016868709             851 aa            linear   PRI 20-MAR-2023
DEFINITION  fibroblast growth factor receptor 1 isoform X6 [Homo sapiens].
ACCESSION   XP_016868709
VERSION     XP_016868709.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017013220.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..851
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..851
                     /product="fibroblast growth factor receptor 1 isoform X6"
                     /calculated_mol_wt=95013
     Region          58..151
                     /region_name="IgI_1_FGFR"
                     /note="First immunoglobulin (Ig)-like domain of fibroblast
                     growth factor receptor (FGFR); member of the I-set of Ig
                     superfamily (IgSF) domains; cd04973"
                     /db_xref="CDD:409362"
     Region          58..61
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409362"
     Region          73..79
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409362"
     Region          82..92
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409362"
     Region          96..101
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409362"
     Region          104..106
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409362"
     Region          111..115
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409362"
     Region          118..123
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409362"
     Region          129..138
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409362"
     Region          141..151
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409362"
     Region          184..278
                     /region_name="IgI_2_FGFR"
                     /note="Second immunoglobulin (Ig)-like domain of
                     fibroblast growth factor (FGF) receptor; member of the
                     I-set of IgSF domains; cd05857"
                     /db_xref="CDD:409443"
     Region          184..187
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409443"
     Region          195..200
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409443"
     Site            order(196,198,200)
                     /site_type="other"
                     /note="FGF binding site [polypeptide binding]"
                     /db_xref="CDD:409443"
     Site            order(197,204..206,208)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:409443"
     Region          204..212
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409443"
     Region          218..223
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409443"
     Region          226..228
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409443"
     Region          237..240
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409443"
     Region          244..249
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409443"
     Region          258..265
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409443"
     Region          268..278
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409443"
     Region          286..390
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          304..308
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          317..321
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          355..359
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          369..374
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          382..385
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          493..794
                     /region_name="PTKc_FGFR1"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Fibroblast Growth Factor Receptor 1; cd05098"
                     /db_xref="CDD:270678"
     Site            order(513..514,516,518,521,541,543,574,590..593,597,652,
                     656..657,659,670,688..692,701,735)
                     /site_type="active"
                     /db_xref="CDD:270678"
     Site            order(513..514,516,518,521,541,543,574,590..593,597,
                     656..657,659,670)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270678"
     Site            order(652,656,688..692,701,735)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270678"
     Site            669..694
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270678"
     CDS             1..851
                     /gene="FGFR1"
                     /gene_synonym="bFGF-R-1; BFGFR; CD331; CEK; ECCL; FGFBR;
                     FGFR-1; FLG; FLT-2; FLT2; HBGFR; HH2; HRTFDS; KAL2; N-SAM;
                     OGD"
                     /coded_by="XM_017013220.2:150..2705"
                     /db_xref="GeneID:2260"
                     /db_xref="HGNC:HGNC:3688"
                     /db_xref="MIM:136350"
ORIGIN      
        1 mearvslkrr ieltveypwr cgalsptsnc rtgmwswkcl lfwavlvtat lctarpsptl
       61 peqaqpwgap vevesflvhp gdllqlrcrl rddvqsinwl rdgvqlaesn rtritgeeve
      121 vqdsvpadsg lyacvtssps gsdttyfsvn vsdalpssed ddddddssse eketdntkpn
      181 pvapywtspe kmekklhavp aaktvkfkcp ssgtpnptlr wlkngkefkp dhriggykvr
      241 yatwsiimds vvpsdkgnyt civeneygsi nhtyqldvve rsphrpilqa glpanktval
      301 gsnvefmckv ysdpqphiqw lkhievngsk igpdnlpyvq ilktagvntt dkemevlhlr
      361 nvsfedagey tclagnsigl shhsawltvl ealeerpavm tsplyleiii yctgaflisc
      421 mvgsvivykm ksgtkksdfh sqmavhklak siplrrqvsa dssasmnsgv llvrpsrlss
      481 sgtpmlagvs eyelpedprw elprdrlvlg kplgegcfgq vvlaeaigld kdkpnrvtkv
      541 avkmlksdat ekdlsdlise memmkmigkh kniinllgac tqdgplyviv eyaskgnlre
      601 ylqarrppgl eycynpshnp eeqlsskdlv scayqvargm eylaskkcih rdlaarnvlv
      661 tednvmkiad fglardihhi dyykkttngr lpvkwmapea lfdriythqs dvwsfgvllw
      721 eiftlggspy pgvpveelfk llkeghrmdk psnctnelym mmrdcwhavp sqrptfkqlv
      781 edldrivalt snqeyldlsm pldqyspsfp dtrsstcssg edsvfshepl peepclprhp
      841 aqlangglkr r
//
LOCUS       XP_024302961             532 aa            linear   PRI 20-MAR-2023
DEFINITION  chondroitin sulfate N-acetylgalactosaminyltransferase 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_024302961
VERSION     XP_024302961.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024447193.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..532
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..532
                     /product="chondroitin sulfate
                     N-acetylgalactosaminyltransferase 1 isoform X1"
                     /calculated_mol_wt=61164
     Region          70..507
                     /region_name="Glyco_tranf_GTA_type"
                     /note="Glycosyltransferase family A (GT-A) includes
                     diverse families of glycosyl transferases with a common
                     GT-A type structural fold; cl11394"
                     /db_xref="CDD:448240"
     CDS             1..532
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /coded_by="XM_024447193.2:851..2449"
                     /db_xref="GeneID:55790"
                     /db_xref="HGNC:HGNC:24290"
                     /db_xref="MIM:616615"
ORIGIN      
        1 mmmvrrglla wisrvvvllv llccaisvly mlactpkgde eqlalprans ptgkegyqav
       61 lqeweeqhrn yvsslkrqia qlkeelqers eqlrngqyqa sdaaglgldr sppektqadl
      121 laflhsqvdk aevnagvkla teyaavpfds ftlqkvyqle tgltrhpeek pvrkdkrdel
      181 veaiesalet lnspaenspn hrpytasdfi egiyrterdk gtlyeltfkg dhkhefkrli
      241 lfrpfgpimk vkneklnman tlinvivpla krvdkfrqfm qnfremcieq dgrvhltvvy
      301 fgkeeinevk gilentskaa nfrnftfiql ngefsrgkgl dvgarfwkgs nvllffcdvd
      361 iyftseflnt crlntqpgkk vfypvlfsqy npgiiyghhd avppleqqlv ikketgfwrd
      421 fgfgmtcqyr sdfiniggfd ldikgwgged vhlyrkylhs nlivvrtpvr glfhlwhekr
      481 cmdeltpeqy kmcmqskamn eashgqlgml vfrheieahl rkqkqktssk kt
//
LOCUS       XP_047277979            1126 aa            linear   PRI 20-MAR-2023
DEFINITION  focal adhesion kinase 1 isoform X6 [Homo sapiens].
ACCESSION   XP_047277979
VERSION     XP_047277979.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422023.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1126
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1126
                     /product="focal adhesion kinase 1 isoform X6"
                     /calculated_mol_wt=127750
     Region          86..181
                     /region_name="FERM_N_2"
                     /note="FERM N-terminal domain; pfam18038"
                     /db_xref="CDD:436229"
     Region          87..309
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          305..415
                     /region_name="FERM_C_FAK1"
                     /note="FERM domain C-lobe of Focal Adhesion Kinase 1 and
                     2; cd13190"
                     /db_xref="CDD:270011"
     Site            order(313,333,335,342)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270011"
     Site            order(347,352..355,392,396,399..400)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Site            392..403
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Region          507..776
                     /region_name="PTKc_FAK"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Focal Adhesion Kinase; cd05056"
                     /db_xref="CDD:133187"
     Site            order(520..524,528,544,546,563,576,591..594,597..598,638,
                     642..643,645,656,673..677,686,720)
                     /site_type="active"
                     /db_xref="CDD:133187"
     Site            order(520..524,528,544,546,563,576,591..594,597..598,
                     642..643,645,656)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133187"
     Site            order(638,642,673..677,686,720)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133187"
     Site            655..679
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133187"
     Site            order(686..690,724,728,753)
                     /site_type="other"
                     /note="FERM domain interface [polypeptide binding]"
                     /db_xref="CDD:133187"
     Region          990..1119
                     /region_name="Focal_AT"
                     /note="Focal adhesion targeting region; pfam03623"
                     /db_xref="CDD:427406"
     CDS             1..1126
                     /gene="PTK2"
                     /gene_synonym="FADK; FADK 1; FAK; FAK1; FRNK; p125FAK;
                     pp125FAK; PPP1R71"
                     /coded_by="XM_047422023.1:181..3561"
                     /db_xref="GeneID:5747"
                     /db_xref="HGNC:HGNC:9611"
                     /db_xref="MIM:600758"
ORIGIN      
        1 mwnpltwmad ciaelglpci fqlqiqcllq fpqsssrite eydrylassk imaaayldpn
       61 lnhtpnsstk thlgtgmers pgamervlkv fhyfesnsep ttwasiirhg datdvrgiiq
      121 kivdshkvkh vacygfrlsh lrseevhwlh vdmgvssvre kyelahppee wkyelriryl
      181 pkgflnqfte dkptlnffyq qvksdymlei adqvdqeial klgcleirrs ywemrgnale
      241 kksnyevlek dvglkrffpk slldsvkakt lrkliqqtfr qfanlnrees ilkffeilsp
      301 vyrfdkecfk calgsswiis velaigpeeg isyltdkgcn pthladftqv qtiqysnsed
      361 kdrkgmlqlk iagapepltv tapsltiaen madlidgycr lvngtsqsfi irpqkegera
      421 lpsipklans ekqgmrthav svsgvshcqh kvkkarrflp lvfcshdpps tdeisgdetd
      481 dyaeiideed tytmpsksyg ideardyeiq rerielgrci gegqfgdvhq giymspenpa
      541 lavaiktckn ctsdsvrekf lqealtmrqf dhphivklig vitenpvwii melctlgelr
      601 sflqvrkysl dlaslilyay qlstalayle skrfvhrdia arnvlvssnd cvklgdfgls
      661 rymedstyyk askgklpikw mapesinfrr ftsasdvwmf gvcmweilmh gvkpfqgvkn
      721 ndvigrieng erlpmppncp ptlyslmtkc waydpsrrpr ftelkaqlst ileeekaqqe
      781 ermrmesrrq atvswdsggs deappkpsrp gypsprsseg fypspqhmvq tnhyqvsgyp
      841 gshgitamag siypgqasll dqtdswnhrp qeiamwqpnv edstvldlrg igqvlpthlm
      901 eerlirqqqe meedqrwlek eerflignqh iyqpvgkpdp aappkkpprp gapghlgsla
      961 slsspadsyn egvkpwrlqp qeisppptan ldrsndkvye nvtglvkavi emsskiqpap
     1021 peeyvpmvke vglalrtlla tvdetipllp asthreiema qkllnsdlge linkmklaqq
     1081 yvmtslqqey kkqmltaaha lavdaknlld vidqarlkml gqtrph
//
LOCUS       XP_047278160             696 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 7 isoform X3 [Homo sapiens].
ACCESSION   XP_047278160
VERSION     XP_047278160.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422204.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..696
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..696
                     /product="zinc finger protein 7 isoform X3"
                     /calculated_mol_wt=78914
     Region          15..75
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          57..>126
                     /region_name="PHA02693"
                     /note="hypothetical protein; Provisional; cl28640"
                     /db_xref="CDD:333460"
     Region          228..685
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          235..254
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          262..282
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          290..310
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          318..338
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(323,325,327,329..330,333..334,337,351,353,357..358,
                     361..362,365,379,381,383,385..386,389..390,393)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          346..366
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          374..394
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          425..445
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          453..473
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(458,460,462,464..465,468..469,472,486,488,492..493,
                     496..497,500,514,516,518,520..521,524..525,528)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          481..501
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          509..529
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          537..557
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          565..585
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          593..613
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          646..666
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          674..694
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..696
                     /gene="ZNF7"
                     /gene_synonym="HF.16; KOX4; zf30"
                     /coded_by="XM_047422204.1:96..2186"
                     /db_xref="GeneID:7553"
                     /db_xref="HGNC:HGNC:13139"
                     /db_xref="MIM:194531"
ORIGIN      
        1 mgflgcwcvs fqevvtfgdv avhfsreewq cldpgqraly revmlenhss vaglgflvfk
       61 pelisrleqg eepwvldlqg aegteaprts ktdstirten eqacedmdil ksesygtvvr
      121 ispqdfpqnp gfgdvsdsev wldshlgspg lkvtgftfqn nclneetvvp ktftkdapqg
      181 ckelgssgld cqplesqges aegmsqrcee cgkgiratsd ialhweintq kisrcqecqk
      241 klsdclqgkh tnnchgekpy ecaecgkvfr lcsqlnqhqr ihtgekpfkc tecgkafrls
      301 skliqhqrih tgekpyrcee cgkafgqsss lihhqrihtg erpygcrecg kafsqqsqlv
      361 rhqrthtger pypckecgka fsqsstlaqh qrmhtgekaq ilkasdspsl vahqrihave
      421 kpfkcdecgk afrwisrlsq hqlihtgekp ykcnkctkaf gcssrlirhq rthtgekpfk
      481 cdecgkgfvq gshliqhqri htgekpyvcn dcgkafsqss sliyhqrihk gekpyeclqc
      541 gkafsmstql tihqrvhtge rpykcnecgk afsqnstlfq hqiihagvkp yecsecgkaf
      601 srssyliehq rihtraqwfy eygnalegst fvsrkkvnti kklhqcedce kifrwrshli
      661 ihqrihtgek pykcndcgka fnrssrltqh qkihmg
//
LOCUS       XP_047297843             366 aa            linear   PRI 20-MAR-2023
DEFINITION  disks large homolog 3 isoform X8 [Homo sapiens].
ACCESSION   XP_047297843
VERSION     XP_047297843.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441887.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..366
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..366
                     /product="disks large homolog 3 isoform X8"
                     /calculated_mol_wt=41981
     Region          19..85
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:450141"
     Site            order(27,29,32,41,59..60,79,81..82)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212690"
     Region          175..353
                     /region_name="Guanylate_kin"
                     /note="Guanylate kinase; pfam00625"
                     /db_xref="CDD:395500"
     CDS             1..366
                     /gene="DLG3"
                     /gene_synonym="MRX; MRX90; NEDLG; PPP1R82; SAP102; XLID90;
                     XLMR"
                     /coded_by="XM_047441887.1:217..1317"
                     /db_xref="GeneID:1741"
                     /db_xref="HGNC:HGNC:2902"
                     /db_xref="MIM:300189"
ORIGIN      
        1 mmnssmssgs gslrtsekrs lyvralfdyd rtrdsclpsq glsfsygdil hvinasddew
       61 wqarlvtphg eseqigvips kkrvekkera rlktvkfhar tgmiesnrsi ktkrkksfrl
      121 srkfpfyksk enmaqessiq eqgvtsntsd sessskgqed ailsyepvtr qeihyarpvi
      181 ilgpmkdrvn ddlisefphk fgscvphttr prrdnevdgq dyhfvvsreq mekdiqdnkf
      241 ieagqfndnl ygtsiqsvra vaergkhcil dvsgnaikrl qqaqlypiai fikpksieal
      301 memnrrqtye qankiydkam kleqefgeyf taivqgdsle eiynkikqii edqsghyiwv
      361 pspekl
//
LOCUS       XP_011529113            1431 aa            linear   PRI 20-MAR-2023
DEFINITION  trophinin isoform X1 [Homo sapiens].
ACCESSION   XP_011529113
VERSION     XP_011529113.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011530811.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1431
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1431
                     /product="trophinin isoform X1"
                     /calculated_mol_wt=143586
     Region          451..611
                     /region_name="MAGE"
                     /note="MAGE family; pfam01454"
                     /db_xref="CDD:426270"
     Region          974..1183
                     /region_name="YjbI"
                     /note="Uncharacterized protein YjbI, contains pentapeptide
                     repeats [Function unknown]; COG1357"
                     /db_xref="CDD:224276"
     Region          1096..>1320
                     /region_name="Nucleoporin_FG2"
                     /note="Nucleoporin FG repeated region; pfam15967"
                     /db_xref="CDD:435043"
     Region          <1221..>1424
                     /region_name="dermokine"
                     /note="cl42387"
                     /db_xref="CDD:455732"
     CDS             1..1431
                     /gene="TRO"
                     /gene_synonym="MAGE-d3; MAGED3"
                     /coded_by="XM_011530811.3:511..4806"
                     /db_xref="GeneID:7216"
                     /db_xref="HGNC:HGNC:12326"
                     /db_xref="MIM:300132"
ORIGIN      
        1 mdrrndygyr vplfqgplpp pgslglpfpp diqtetteed svllmhtlla atkdslamdp
       61 pvvnrpkksk tkkapiktit kaapaappvp aaneiatnkp kitwqalnlp vitqisqalp
      121 ttevtntqas svtaqpkkan kmkrvtakaa qgsqsptghe ggtiqlkspl qvlklpvisq
      181 nihapianes assqalitsi kpkkaskakk aankaiasat evslaatath tattqgqitn
      241 etasihttaa sirtkkaska rktiakvint dtehiealnv tdaatrqiea svvairpkks
      301 kgkkaasrgp nsvseiseap latqivtnqa laatlrvkrg srarkaatka ratesqtpna
      361 dqgaqakias aqtnvsalet qvaaavqala ddylaqlsle pttrtrgkrn rkskhlngde
      421 rsgsnyrrip wgrrpapprd vailqerank lvkyllvkdq tkipikrsdm lrdviqeyde
      481 yfpeiieras ytlekmfrvn lkeidkqssl yilistqess agilgttkdt pklgllmvil
      541 svifmngnka seaviwevlr klglrpgvrh slfgevrkli tdefvkqkyl eykrvpnsrp
      601 peyeffwglr syhetskmkv lkfacrvqkk dpkdwavqyr eavemevqaa avavaeaear
      661 aearaqmgig eeavagpwnw ddmdidcltr eelgddaqaw srfsfeiear aqenadastn
      721 vnfsrgastr agfsdgasis fngapsssgg fsggpgitfg vapstsasfs ntasisfggt
      781 lstsssfssa asisfgcahs tstsfsseas isfggmpcts asfsggvsss fsgplstsat
      841 fsggassgfg gtlsttagfs gvlststsfg sapttstvfs salststgfg gilstsvcfg
      901 gspsssgsfg gtlstsicfg gspctstgfg gtlstsvsfg gssstsanfg gtlstsicfd
      961 gspstgagfg galntsasfg svlntstgfg gamstsadfg gtlstsvcfg gspgtsvsfg
     1021 salntnagyg gavstntdfg gtlstsvcfg gspstsagfg galntnasfg cavstsasfs
     1081 gavstsacfs gapitnpgfg gafstsagfg galstaadfg gtpsnsigfg aapstsvsfg
     1141 gahgtslcfg gapstslcfg sasntnlcfg gppstsacfs gatspsfcdg pststgfsfg
     1201 nglstnagfg gglntsagfg gglgtsagfs gglstssgfd gglgtsagfg ggpgtstgfg
     1261 gglgtsagfs gglgtsagfg gglvtsdgfg gglgtnasfg stlgtsagfs gglstsdgfg
     1321 srpnasfdrg lstiigfgsg sntstgftge pststgfssg pssivgfsgg pstgvgfcsg
     1381 pstsgfsggp stgagfgggp ntgagfgggp stsagfgsga aslgacgfsy g
//
LOCUS       XP_054184473             219 aa            linear   PRI 20-MAR-2023
DEFINITION  HLA class II histocompatibility antigen, DQ beta 2 chain isoform X3
            [Homo sapiens].
ACCESSION   XP_054184473
VERSION     XP_054184473.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328498.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167244.2) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..219
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..219
                     /product="HLA class II histocompatibility antigen, DQ beta
                     2 chain isoform X3"
                     /calculated_mol_wt=25171
     CDS             1..219
                     /gene="HLA-DQB2"
                     /gene_synonym="DQB2; HLA-DQB1; HLA-DXB"
                     /coded_by="XM_054328498.1:63..722"
                     /db_xref="GeneID:3120"
                     /db_xref="HGNC:HGNC:4945"
                     /db_xref="MIM:615161"
ORIGIN      
        1 malqipggfw aaavtvmlvm lstpvaeard fpkdflvqfk gmcyftngte rvrgvaryiy
       61 nreeygrfds dvgefqavte lgrsiedwnn ykdfleqera avdkvcrhny eaelrttlqr
      121 qveptvtisp srtealnhhn llvcsvtdfy paqikvrwfr ndqeetagvv stslirngdw
      181 tfqilvmlei tpqrgdiytc qvehpslqsp itvewrllh
//
LOCUS       XP_054185304             527 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 3H isoform X4 [Homo sapiens].
ACCESSION   XP_054185304
VERSION     XP_054185304.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329329.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187614.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..527
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     Protein         1..527
                     /product="TBC1 domain family member 3H isoform X4"
                     /calculated_mol_wt=59745
     CDS             1..527
                     /gene="TBC1D3H"
                     /coded_by="XM_054329329.1:1559..3142"
                     /db_xref="GeneID:729877"
                     /db_xref="HGNC:HGNC:30708"
                     /db_xref="MIM:610811"
ORIGIN      
        1 mdvvevagsw waqerediim kyekghragl pedkgpkpfr synnnvdhlg ivhetelppl
       61 tareakqirr eisrkskwvd mlgdwekyks srklidrayk gmpmnirgpm wsvllnteem
      121 klknpgryqi mkekgkrsse hiqridrdis gtlrkhmffr drygtkqrel lhillayeey
      181 npevgycrdl shiaalflly lpeedafwal vqllaserhs lqgfhspngg tvqglqdqqe
      241 hvvatsqpkt mghqislglt lrlwdvylve geqalmpitr iafkvqqkrl tktsrcgpwa
      301 rfcnrfvdtw ardedtvlkh lrasmkkltr kqgdlpppak peqgssasrp vpasrggktl
      361 ckgdrqappg pparfprpiw sasppraprs stpcpggavr edtypvgtqg vpspalaqgg
      421 pqgswrflqw nsmprlptdl dvegpwfrhy dfrqscwvra isqedqlapc wqaehpaerv
      481 rsafaapstd sdqgtpfrar deqqcaptsg pclcglhles sqfppgf
//
LOCUS       XP_054187003             680 aa            linear   PRI 20-MAR-2023
DEFINITION  gamma-aminobutyric acid type B receptor subunit 1 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054187003
VERSION     XP_054187003.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331028.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..680
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..680
                     /product="gamma-aminobutyric acid type B receptor subunit
                     1 isoform X6"
                     /calculated_mol_wt=75938
     CDS             1..680
                     /gene="GABBR1"
                     /gene_synonym="GABABR1; GABBR1-3; GB1; GPRC3A"
                     /coded_by="XM_054331028.1:70..2112"
                     /db_xref="GeneID:2550"
                     /db_xref="HGNC:HGNC:4070"
                     /db_xref="MIM:603540"
ORIGIN      
        1 mpgawmllll llaplflrpp gaggaqtpna tsegcqiihp pweggiryrg ltrdqvkain
       61 flpvdyeiey vcrgerevvg pkvrkclang swtdmdtpsr cvricsksyl tlengkvflt
      121 ggdlpaldga rvdfrcdpdf hlvgssrsic sqgqwstpkp hcqvnrtphs erravyigal
      181 fpmsggwpgg qacqpavema ledvnsrrdi lpdyelklih hdskcdpgqa tkylyellyn
      241 dpikiilmpg cssvstlvae aarmwnlivl sygssspals nrqrfptffr thpsatlhnp
      301 trvklfekwg wkkiatiqqt tevftstldd leervkeagi eitfrqsffs dpavpvknlk
      361 rqdariivgl fyetearkvf cevykerlfg kkyvwfligw yadnwfkiyd psinctvdem
      421 teaveghitt eivmlnpant rsisnmtsqe fvekltkrlk rhpeetggfq eaplaydaiw
      481 alalalnkts ggggrsgvrl edfnynnqti tdqiyramns ssfegvsghv vfdasgsrma
      541 wtlieqlqgg sykkigyyds tkddlswskt dkwiggsppa dqtlviktfr flsqklfisv
      601 svlsslgivl avvclsfniy nshvryiqns qpnlnnltav gcslalaavf plgldgyhig
      661 rnqfpfvcql sltlvpvlsf
//
LOCUS       XP_054187253             341 aa            linear   PRI 20-MAR-2023
DEFINITION  advanced glycosylation end product-specific receptor isoform X1
            [Homo sapiens].
ACCESSION   XP_054187253
VERSION     XP_054187253.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331278.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167249.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..341
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..341
                     /product="advanced glycosylation end product-specific
                     receptor isoform X1"
                     /calculated_mol_wt=37162
     CDS             1..341
                     /gene="AGER"
                     /gene_synonym="RAGE; SCARJ1; sRAGE"
                     /coded_by="XM_054331278.1:32..1057"
                     /db_xref="GeneID:177"
                     /db_xref="HGNC:HGNC:320"
                     /db_xref="MIM:600214"
ORIGIN      
        1 maagtavgaw vlvlslwgav vgaqnitari geplvlkckg apkkppqrle wklntgrtea
       61 wkvlspqggg pwdsvarvlp ngslflpavg iqdegifrcq amnrngketk snyrvrvyqi
      121 pgkpeivdsa seltagvpnk vveesrrsrk rpceqevgtc vsegsypagt lswhldgkpl
      181 vpnekgvsvk eqtrrhpetg lftlqselmv tparggdprp tfscsfspgl prhralrtap
      241 iqprvwepvp leevqlvvep eggavapggt vtltcevpaq pspqihwmkd nqarrgqlqv
      301 rgliksgkqk iapntcdwgd gqqerngrpq ktrrkrrsvq n
//
LOCUS       XP_054187296             255 aa            linear   PRI 20-MAR-2023
DEFINITION  HLA class II histocompatibility antigen, DQ alpha 1 chain isoform
            X2 [Homo sapiens].
ACCESSION   XP_054187296
VERSION     XP_054187296.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331321.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167249.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..255
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..255
                     /product="HLA class II histocompatibility antigen, DQ
                     alpha 1 chain isoform X2"
                     /calculated_mol_wt=28033
     CDS             1..255
                     /gene="HLA-DQA1"
                     /gene_synonym="CELIAC1; DQ-A1; DQA1; HLA-DQA; HLA-DQA1*;
                     HLA-DQB1"
                     /coded_by="XM_054331321.1:97..864"
                     /db_xref="GeneID:3117"
                     /db_xref="HGNC:HGNC:4942"
                     /db_xref="MIM:146880"
ORIGIN      
        1 milnkalmlg alalttvmsp cggedivadh vasygvnlyq sygpsgqysh efdgdeefyv
       61 dlerketvwq lplfrrfrrf dpqfaltnia vlkhnlnivi krsnstaatn evpevtvfsk
      121 spvtlgqpnt liclvdnifp pvvnitwlsn ghsvtegvse tsflsksdhs ffkisyltfl
      181 psadeiydck vehwgldepl lkhwepeipt pmseltetvv calglsvglv givvgtvlii
      241 rglrsvgasr hqgpl
//
LOCUS       XP_054187578            1836 aa            linear   PRI 20-MAR-2023
DEFINITION  histone acetyltransferase KAT6B isoform X4 [Homo sapiens].
ACCESSION   XP_054187578
VERSION     XP_054187578.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331603.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_009646202.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1836
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.2"
     Protein         1..1836
                     /product="histone acetyltransferase KAT6B isoform X4"
                     /calculated_mol_wt=205086
     CDS             1..1836
                     /gene="KAT6B"
                     /gene_synonym="GTPTS; MORF; MOZ2; MYST4; qkf; querkopf;
                     ZC2HC6B"
                     /coded_by="XM_054331603.1:515..6025"
                     /db_xref="GeneID:23522"
                     /db_xref="HGNC:HGNC:17582"
                     /db_xref="MIM:605880"
ORIGIN      
        1 mvklanplyt ewileaiqki kkqkqrpsee richavstsh gldkktvseq lelsvqdgsv
       61 lkvtnkglas ykdpdnpgrf ssvkpgtfpk sakgsrgscn dlrnvdwnkl lrraieglee
      121 pngsslknie kylrsqsdlt sttnnpafqq rlrlgakrav nngrllkdgp qyrvnygsld
      181 gkgapqypsa fpsslppvsl lphekdqpra dpipicsfcl gtkesnrekk peellscadc
      241 gssghpsclk fcpelttnvk alrwqcieck tcsacrvqgr nadnmlfcds cdrgfhmecc
      301 dpplsrmpkg mwicqvcrpk kkgrkllhek aaqikrryak pigrpknklk qrllsvtsde
      361 gsmnaftgrg spgrgqktkv cttpssghaa sgkdsssrla vtdptrpgat tkitttstyi
      421 sastlkvnkk tkglidgltk fftpspdgrr srgeiidfsk hyrprkkvsq kqsctshvla
      481 tdteikinik qesadvnvig nkdvvteedl dvfkqaqels wekiecesgv edcgrypsvi
      541 efgkyeiqtw ysspypqeya rlpklylcef clkymkskni llrhskkcgw fhppaneiyr
      601 rkdlsvfeek lcqqkynvsc imimpqhqrq gfgrflidfs yllsrregqa gspekplsdl
      661 grlsylaywk svileylyhh herhisikai sratgmcphd iattlqhlhm idkrdgrfvi
      721 irreklilsh meklktcsra neldpdslrw tpilisnaav seeereaeke aerlmeqasc
      781 wekeeqeils transrqspa kvqsknkylh spesrpvtge rgqllelske sseeeeeeed
      841 eeeeeeeeee eedeeeeeee eeeeeeeniq sspprltkpq svaikrkrpf vlkkkrgrkr
      901 rrinssvtte tisettevln epfdnsdeer pmpqleptce ieveedgrkp vlrkafqhqp
      961 gkkrqteeee gkdnhcfkna dpcrnnmndd ssnlkegskd npeplkckqv wpkgtkrgls
     1021 kwrqnkerkt gfklnlytpp etpmepdeqv tveeqketse gktspspiri eeevketgea
     1081 llpqeenrre etcapvspnt spgekpeddl ikpeeeeeee eeeeeeeeee egeeeegggn
     1141 vekdpdgaks qekeepeist ekedsarldd heeeeeedee pshnedhdad deddshmesa
     1201 evekeelpre sfkevlenqe tfldlnvqpg hsnpevlmdc gvdltascns epkelagdpe
     1261 avpesdeepp pgeqaqkqdq knskevdtef kegnpatmei dsetvqavqs ltqesseqdd
     1321 tfqdcaetqe acrslqnytr adqspqiatt lddcqqsdhs spvssvhshp gqsvrsvnsp
     1381 svpalensya qispdqsais vpslqnmets pmmdvpsvsd hsqqvvdsgf sdlgsiestt
     1441 enyenpssyd stmggsicgn gssqnscsys nltsssltqs scavtqqmsn isgscsmlqq
     1501 tsisspptcs vkspqgcvve rppsssqqla qcsmaanftp pmqlaeipet snaniglyer
     1561 mgqsdfgagh ypqpsatfsl aklqqltntl idhslpyshs aavtsyansa slstplsntg
     1621 lvqlsqsphs vpggpqaqat mtpppnltpp pmnlpppllq rnmaasnigi shsqrlqtqi
     1681 askghismrt ksaslspaaa thqsqiygrs qtvamqgpar tltmqrgmnm svnlmpapay
     1741 nvnsvnmnmn tlnamngysm sqpmmnsgyh snhgymnqtp qypmqmqmgm mgtqpyaqqp
     1801 mqtpphgnmm ytapghhgym ntgmskqsln gsymrr
//
LOCUS       XP_054192094             880 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium/hydrogen exchanger 11 isoform X6 [Homo sapiens].
ACCESSION   XP_054192094
VERSION     XP_054192094.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336119.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 10% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..880
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..880
                     /product="sodium/hydrogen exchanger 11 isoform X6"
                     /calculated_mol_wt=101314
     CDS             1..880
                     /gene="SLC9C2"
                     /gene_synonym="SLC9A11"
                     /coded_by="XM_054336119.1:743..3385"
                     /db_xref="GeneID:284525"
                     /db_xref="HGNC:HGNC:28664"
ORIGIN      
        1 mltniilcfs mvymtfyive flgmsgtlal aavglnldsl tfkpkielvi tkflrifssv
       61 yehliyaffg ivigcgelsh yefhtipfif ilfttvnlvr lltillvspi lmhsnyeynw
      121 rwgvvitwsg ikgvfnllwa pdvynlaerk vevpqmfily vqvislltmg insyvmtqsa
      181 rkldlcvlsl prqmilqnat qhiqeivqnt itlfktekil tnvnwtlved ktrieyipfs
      241 hvshndmkte sttdealmee arlhvaaiqm ssfekqrnng ileieaaril igaakcyysi
      301 qgkfmsiydv stymrtrswl ikfknvltfl eyciekihfi ppesntfltf ifhivfseef
      361 eytgqiinli yiypmiihlw pmarglnvsa lisinyyfmf lyvlestlki iilkrkyfqq
      421 cwntleffil vigiidifcv yfvklrpdnl aliqltvimg ylriirflpl fkiivpilir
      481 iadvqikkrl slmysitkgy iksqedakll ikqiavcesi yqklceilet nkqdavkelv
      541 lmehegrdvv ialktkqair nviakalknl tflcsrgiid khevieinkv llkklkalnn
      601 fpkaippptp diylhniiwl egkdvlidff keraklacfd sgdtickgge mpqgiyliis
      661 gmailhslsp tfgiesnqrc drgsrdmfte fcttgdiige lscllkreie ytvicetslq
      721 acfisledly egfdafwpsl eykiwlklal stayqyfess lidedlrfqn cvmfnqayve
      781 tlssysdmii dnmtmkfvii vygsvidtkt eepyfapcii pttceqvqgt sdlsklliiq
      841 aseltqrnsn tnvmaplcag ycakcqlpqs trslnnqeri
//
LOCUS       XP_054193320             858 aa            linear   PRI 20-MAR-2023
DEFINITION  volume-regulated anion channel subunit LRRC8D isoform X1 [Homo
            sapiens].
ACCESSION   XP_054193320
VERSION     XP_054193320.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337345.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..858
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..858
                     /product="volume-regulated anion channel subunit LRRC8D
                     isoform X1"
                     /calculated_mol_wt=98071
     CDS             1..858
                     /gene="LRRC8D"
                     /gene_synonym="HsLRRC8D; LRRC5"
                     /coded_by="XM_054337345.1:16962..19538"
                     /db_xref="GeneID:55144"
                     /db_xref="HGNC:HGNC:16992"
                     /db_xref="MIM:612890"
ORIGIN      
        1 mftlaevasl ndiqptyril kpwwdvfmdy lavvmlmvai fagtmqltkd qvvclpvlps
       61 pvnskahtpp gnaevttnip kmeaatnqdq dgrttndisf gtsavtpdip lratyprtdf
      121 alpnqeakke kkdptgrktn ldfqqyvfin qmcyhlalpw yskyfpylal ihtiilmvss
      181 nfwfkypktc skvehfvsil gkcfespwtt kalsetaced seenkqritg aqtlpkhvst
      241 ssdegspsas tpminktgfk fsaekpviev psmtildkkd geqakalfek vrkfrahved
      301 sdliyklyvv qtviktakfi filcytanfv naisfehvck pkvehligye vfecthnmay
      361 mlkkllisyi siicvygfic lytlfwlfri plkeysfekv reessfsdip dvkndfafll
      421 hmvdqydqly skrfgvflse vsenklreis lnhewtfekl rqhisrnaqd kqelhlfmls
      481 gvpdavfdlt dldvlkleli peakipakis qmtnlqelhl chcpakveqt afsflrdhlr
      541 clhvkftdva eipawvyllk nlrelylign lnsennkmig leslrelrhl kilhvksnlt
      601 kvpsnitdva phltklvihn dgtkllvlns lkkmmnvael elqnceleri phaifslsnl
      661 qeldlksnni rtieeiisfq hlkrltclkl whnkivtipp sithvknles lyfsnnkles
      721 lpvavfslqk lrcldvsynn ismipieigl lqnlqhlhit gnkvdilpkq lfkciklrtl
      781 nlgqncitsl pekvgqlsql tqlelkgncl drlpaqlgqc rmlkksglvv edhlfdtlpl
      841 evkealnqdi nipfangi
//
LOCUS       XP_054194450             263 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein RO60 isoform X3 [Homo sapiens].
ACCESSION   XP_054194450
VERSION     XP_054194450.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338475.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..263
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..263
                     /product="RNA-binding protein RO60 isoform X3"
                     /calculated_mol_wt=28727
     CDS             1..263
                     /gene="RO60"
                     /gene_synonym="RORNP; SSA2; TROVE2"
                     /coded_by="XM_054338475.1:760..1551"
                     /db_xref="GeneID:6738"
                     /db_xref="HGNC:HGNC:11313"
                     /db_xref="MIM:600063"
ORIGIN      
        1 mpltallrnl gkmtansvle pgnsevslvc eklcnekllk karihpfhil ialetyktgh
       61 glrgklkwrp deeilkalda afyktfktve ptgkrfllav dvsasmnqrv lgsilnastv
      121 aaamcmvvtr tekdsyvvaf sdemvpcpvt tdmtlqqvlm amsqipaggt dcslpmiwaq
      181 ktntpadvfi vftdnetfag gvhpaialre yrkkmdipak livcgmtsng ftiadpddrg
      241 mldmcgfdtg aldvirnftl dmi
//
LOCUS       XP_054220629            1000 aa            linear   PRI 20-MAR-2023
DEFINITION  SEC23-interacting protein isoform X1 [Homo sapiens].
ACCESSION   XP_054220629
VERSION     XP_054220629.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364654.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1000
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1000
                     /product="SEC23-interacting protein isoform X1"
                     /calculated_mol_wt=110947
     CDS             1..1000
                     /gene="SEC23IP"
                     /gene_synonym="iPLA1A; iPLA1beta; MSTP053; P125; P125A"
                     /coded_by="XM_054364654.1:54..3056"
                     /db_xref="GeneID:11196"
                     /db_xref="HGNC:HGNC:17018"
                     /db_xref="MIM:617852"
ORIGIN      
        1 maerkpnggs ggastsssgt nllfsssate fsfnvpfipv tqasaspasl llpgedstdv
       61 geedsflgqt sihtsapqtf syfsqvssss dpfgnigqsp lttaatsvgq sgfpkpltal
      121 pfttgsqdvs nafspsiska qpgappsslm ginsylpsqp sslppsyfgn qpqgipqpgy
      181 npyrhtpgss ranpyiappq lqqcqtpgpp ahpppsgppv qmyqmppgsl ppvpssvqsp
      241 aqqqvparpg apsvqvpspf llqnqyepvq phwfyckeve ykqlwmpfsv fdslnleeiy
      301 nsvqpdpesv vlgtdggryd vylydrirka ayweeepaev rrctwfykgd tdsrfipyte
      361 efsekleaey kkavttnqwh rrlefpsget ivmhnpkviv qfqpssvpde wgttqdgqtr
      421 prvvkrgidd nldeipdgem pqvdhlvfvv hgigpvcdlr frsiiecvdd frvvslkllr
      481 thfkkslddg kvsrveflpv hwhsslggda tgvdrnikki tlpsigrfrh ftnetlldil
      541 fynsptycqt ivekvgmein hlhalfmsrn pdfkggvsva ghslgslilf dilsnqkdln
      601 lskcpgplav angvvkqlhf qekqmpeepk ltldesydlv veneevltlq etlealslse
      661 yfstfekeki dmesllmctv ddlkemgipl gprkkianfv ehkaaklkka asekkavaat
      721 stkgqeqsaq ktkdmaslps esnepkrklp vgacvssvcv nyesfevgag qvsvaynsld
      781 fepeiffalg spiamfltir gvdridenys lptckgffni yhpldpvayr lepmivpdld
      841 lkavliphhk grkrlhlelk eslsrmgsdl kqgfisslks awqtlnefar ahtsstqlqe
      901 elekvanqik eeeekqvvea ekvvespdfs kdedylgkvg mlnggrridy vlqekpiesf
      961 neylfalqsh lcywesedta llllkeiyrt mnispeqpqh
//
LOCUS       XP_054220695             627 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphoinositide 3-kinase adapter protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054220695
VERSION     XP_054220695.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364720.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..627
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..627
                     /product="phosphoinositide 3-kinase adapter protein 1
                     isoform X2"
                     /calculated_mol_wt=70281
     CDS             1..627
                     /gene="PIK3AP1"
                     /gene_synonym="BCAP"
                     /coded_by="XM_054364720.1:194..2077"
                     /db_xref="GeneID:118788"
                     /db_xref="HGNC:HGNC:30034"
                     /db_xref="MIM:607942"
ORIGIN      
        1 mvvqpdrirc gaettvyviv rcklddrvat eaefspedsp svrmeakven eytisvkapn
       61 lssgnvslki ysgdlvvcet visyytdmee ignllsnaan pvefmcqafk ivpyntetld
      121 kllteslknn ipasglhlfg inqleeedmm tnqrdeelpt llhfaakygl knltallltc
      181 pgalqaysva nkhghypnti aekhgfrdlr qfideyvetv dmlkshikee lmhgeeadav
      241 yesmahlstd llmkcslnpg cdedlyesma afvpaatedl yvemlqasts npipgdgfsr
      301 atkdsmirkf legnsmgmtn lerdqchlgq eedvyhtvdd deafsvdlas rppvpvprpe
      361 ttapgahqlp dnepyifkvf aeksqerpgn fyvssesirk gppvrpwrdr pqssiydpfa
      421 gmktpgqrql itlqeqvklg ivnvdeavlh fkewqlnqkk rsesfrfqqe nlkrlrdsit
      481 rrqrekqksg kqtdleitvp irhsqhlpak vefgvyesgp rksvipprte lrrgdwktds
      541 tsstasstsn rsstrsllsv ssgmegdned nevpevtrsr spgppqvdgt ptmslerppr
      601 vppraasqrp ptretfhppp pvpprgr
//
LOCUS       XP_054223312            1040 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA cross-link repair 1A protein isoform X1 [Homo sapiens].
ACCESSION   XP_054223312
VERSION     XP_054223312.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367337.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1040
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1040
                     /product="DNA cross-link repair 1A protein isoform X1"
                     /calculated_mol_wt=116291
     CDS             1..1040
                     /gene="DCLRE1A"
                     /gene_synonym="PSO2; SNM1; SNM1A"
                     /coded_by="XM_054367337.1:870..3992"
                     /db_xref="GeneID:9937"
                     /db_xref="HGNC:HGNC:17660"
                     /db_xref="MIM:609682"
ORIGIN      
        1 mlediseedi weykskrkpk rvdpnngskn ilksvekatd gkyqskrsrn rkraaeakev
       61 kdhevplgna gcqtsvassq nsscgdgiqq tqdkettpgk lcrtqksqhv spkirpvydg
      121 ycpncqmpfs sligqtprwh vfecldsppr setecpdgll ctstipfhyk rythfllaqs
      181 ragdhpfssp spasggsfse tksgvlcsle erwssyqnqt dnsvsndpll mtqyfkksps
      241 lteasekist hiqtsqqalq ftdfvendkl vgvalrlann sehinlplpe ndfsdceisy
      301 splqsdedth didekphdsq eqlfftessk dgsleeddds cgffkkrhgp llkdqdescp
      361 kvnsfltrdk ydeglyrfns lndlsqpisq nnestlpydl actggdfvlf ppalagklaa
      421 svhqatkakp depefhsaqs nkqkqviees svynqvslpl vkslmlkpfe sqvegylssq
      481 ptqntirkls senlnaknnt nsacfcrkal egvpvgkati lntenlsstp apkylkilps
      541 glkynarhps tkvmkqmdig vyfglppkrk eekllgesal eginlnpvps pnqkrssqck
      601 rkaekslsdl efdastlhes qlsvelsser sqrqkkrcrk snslqegacq krsdhlinte
      661 seavnlskvk vftksahggl qrgnkkipes snvggsrkkt cpfykkipgt gftvdafqyg
      721 vvegctayfl thfhsdhyag lskhftfpvy cseitgnllk nklhvqeqyi hplpldteci
      781 vngvkvvlld anhcpgavmi lfylpngtvi lhtgdfradp smerslladq kvhmlyldtt
      841 ycspeytfps qqevirfain tafeavtlnp halvvcgtys igkekvflai advlgskvgm
      901 sqekyktlqc lnipeinsli ttdmcsslvh llpmmqinfk glqshlkkcg gkynqilafr
      961 ptgwthsnkf triadvipqt kgnisiygip ysehssylem krfvqwlkpq kiiptvnvgt
     1021 wksrstmeky frewkleagy
//
LOCUS       XP_054223438             551 aa            linear   PRI 20-MAR-2023
DEFINITION  deformed epidermal autoregulatory factor 1 homolog isoform X2 [Homo
            sapiens].
ACCESSION   XP_054223438
VERSION     XP_054223438.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367463.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..551
                     /product="deformed epidermal autoregulatory factor 1
                     homolog isoform X2"
                     /calculated_mol_wt=57612
     CDS             1..551
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /coded_by="XM_054367463.1:176..1831"
                     /db_xref="GeneID:10522"
                     /db_xref="HGNC:HGNC:14677"
                     /db_xref="MIM:602635"
ORIGIN      
        1 medsdsaakq lglaeaaava aaaavaaaaa aaaggeaeep vlsrdedsee dadseaeret
       61 prvtavavma aepghmdmga ealpgpdeaa aaaafaevtt vtvanvgaaa dnvfttsvan
      121 aasisghvls grtalqigds lntekatliv vhtdgsivet tglkgpaapl tpgpqspptp
      181 lapgqekggt kynwdpsvyd selpvrcrni sgtlyknrlg sggrgrcikq genwysptef
      241 eamagrassk dwkrsiryag rplqcliqdg ilnphaasct caaccddmtl sgpvrlfvpy
      301 krrkkenelp ttpvkkdspk nitllpataa ttftvtpsgq ittsgaltfd rastveatav
      361 isespaqgdv fagatvqeas vqppcrashp ephypgyqds cqiapfpeaa lptshpkivl
      421 tslpalavpp ptptkaappa lvnglelsep rswlyleemv nsllntaqql ktlfeqakha
      481 styreaatnq akihadaerk eqscvncgre amsectgchk vnycstfcqr ksevlnspai
      541 tvelsgfcfc f
//
LOCUS       XP_054223827             274 aa            linear   PRI 20-MAR-2023
DEFINITION  protein MFI isoform X10 [Homo sapiens].
ACCESSION   XP_054223827
VERSION     XP_054223827.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367852.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..274
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..274
                     /product="protein MFI isoform X10"
                     /calculated_mol_wt=32156
     CDS             1..274
                     /gene="C11orf65"
                     /gene_synonym="MFI"
                     /coded_by="XM_054367852.1:162..986"
                     /db_xref="GeneID:160140"
                     /db_xref="HGNC:HGNC:28519"
ORIGIN      
        1 mpwkeeseft kqdkaarviq qawksflnva ifqhfkslid lrrqgeprqi vkyinpkeae
       61 lldaaagihv rfrlggvkfp pdiyykifth rpiedlcans prnyaklpak htshnkndhl
      121 qeedhsgwyh rienngwrpv sdtfwlstdg mvvedkkese fhfsklkrrq dlekkrklrk
      181 iewmrqmyys gsleaksthh etlglihtat kglirafedg gidsvmewev devlnwtntl
      241 nfdeyiaswk eiatsnssan fkdlhtemft demi
//
LOCUS       XP_054224322             288 aa            linear   PRI 20-MAR-2023
DEFINITION  breast cancer metastasis-suppressor 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054224322
VERSION     XP_054224322.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368347.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..288
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..288
                     /product="breast cancer metastasis-suppressor 1 isoform
                     X2"
                     /calculated_mol_wt=32420
     CDS             1..288
                     /gene="BRMS1"
                     /coded_by="XM_054368347.1:141..1007"
                     /db_xref="GeneID:25855"
                     /db_xref="HGNC:HGNC:17262"
                     /db_xref="MIM:606259"
ORIGIN      
        1 mpvqppskdt eemeaegdsa aemngeeees eeersgsqte seeessemdd edyerrrsec
       61 vsemldlekq fselkeklfr erlsqlrlrl eevgaerape yteplgglqr slkiriqvag
      121 iykgfcldvi rnkyecelqg akqhlesekl llydtlqgel qeriqrleed rqsldlssew
      181 wddklhargs srswdslpps krkkaplvsg pyivymlqei diledwtaik ktggptgpsg
      241 saqpgscgaa gpshsiwhwp glllcpprgl hscgrgadlt rqgcclhp
//
LOCUS       XP_054225390            1216 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA2-interacting transcriptional repressor EMSY isoform X29 [Homo
            sapiens].
ACCESSION   XP_054225390
VERSION     XP_054225390.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369415.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1216
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1216
                     /product="BRCA2-interacting transcriptional repressor EMSY
                     isoform X29"
                     /calculated_mol_wt=129545
     CDS             1..1216
                     /gene="EMSY"
                     /gene_synonym="C11orf30; GL002"
                     /coded_by="XM_054369415.1:151..3801"
                     /db_xref="GeneID:56946"
                     /db_xref="HGNC:HGNC:18071"
                     /db_xref="MIM:608574"
ORIGIN      
        1 mpvvwptlld lsrdeckril rkleleayag visalraqgd ltkekkdllg elskvlsist
       61 erhraevrra vnderlttia hkmnlslylg erpsysmsgp nsssewsieg rrlvplmprl
      121 vpqtaftvta navanaaiqh naslpvpaet gskevvvcys ytsttstpts tpvpsgsiat
      181 vksprpaspa snvvvlpsgs tvyvksvscs dedekprkrr rtnssssspv vlkevpkavv
      241 pvsktitvpv sgspkmsnim qsianslpph mspvkitftk pstqttnttt qkviivttsp
      301 sstfvpnils kshnyaavtk lvptsviast tqkppvvita sqsslvsnss sgsssstpsp
      361 ipntvavtav vsstpsvvms tvaqgvstsa ikmastrlps pkslvsaptq ilaqfpkqhq
      421 qspkqqlyqv qqqtqqqvaq pspvshqqqp qqsplppgik ptiqikqesg vkiitqqvqp
      481 skilpkpvta tlptssnspi mvvssngaim ttklvttptg tqatytrptv spsigrmaat
      541 pgaatyvktt sgsiitvvpk slatlggkii ssnivsgttt kittipmtsk pnvivvqktt
      601 gkgttiqglp gknvvttlln aggektiqtv ptgakpailt atrpitkmiv tqpkgigstv
      661 qpaakiiptk ivygqqgktq vlikpkpvtf qatvvseqtr qlvtetlqqa srvaeagnss
      721 iqegkeepqn ytdssssste ssqssqvshr sqpqqpsqpq rtllqhvaqs qtatqtsvvv
      781 ksipasspga ithimqqals shtaftkhse elgteegeve emdtldpqtg lfyrsaltqs
      841 qsakqqklsq ppleqtqlqv ktlqcfqtkq kqtihlqadq lqhklpqmpq lsirhqkltp
      901 lqqeqaqpkp dvqhtqhpmv akdrqlptlm aqppqtvvqv lavkttqqlp klqqapnqpk
      961 iyvqpqtpqs qmslpassek qtasqveqpi itqgssvtki tfegrqpptv tkitggssvp
     1021 kltspvtsis piqasektav sdilkmslme aqidtnvehm ivdppkkala tsmltgeags
     1081 lpsthmvvag manstpqqqk crescsspst vgsslttrki dppavpatgq fmriqnvgqk
     1141 kaeespaeii iqaipqyaip chsssnvvve psgllelnnf tsqqlddeet ameqdidsst
     1201 edgtepspsq ssaers
//
LOCUS       XP_054225678             514 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase 33 isoform X1 [Homo sapiens].
ACCESSION   XP_054225678
VERSION     XP_054225678.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369703.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..514
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..514
                     /product="serine/threonine-protein kinase 33 isoform X1"
                     /calculated_mol_wt=57700
     CDS             1..514
                     /gene="STK33"
                     /coded_by="XM_054369703.1:723..2267"
                     /db_xref="GeneID:65975"
                     /db_xref="HGNC:HGNC:14568"
                     /db_xref="MIM:607670"
ORIGIN      
        1 madsgldkks tkcpdcssas qkdvlcvcss ktrvppvlvv emsqtssigs aeslislerk
       61 kekninrdit srkdlpsrts nverkasqqq wgrgnftegk vphirienga aieeiytfgr
      121 ilgkgsfgiv ieatdketet kwaikkvnke kagssavkll erevnilksv khehiihleq
      181 vfetpkkmyl vmelcedgel keildrkghf senetrwiiq slasaiaylh nndivhrdlk
      241 lenimvkssl iddnneinln ikvtdfglav kkqsrseaml qatcgtpiym apevisahdy
      301 sqqcdiwsig vvmymllrge ppflasseek lfelirkgel hfenavwnsi sdcaksvlkq
      361 lmkvdpahri takelldnqw ltgnklssvr ptnvlemmke wknnpesvee ntteeknkps
      421 teeklksyqp wgnvpdanyt sdeeeekqst ayekqfpats kdnfdmcsss ftsskllpae
      481 ikgemektpv tpsqgtatky paksgalsrt kkkl
//
LOCUS       XP_054226747             495 aa            linear   PRI 20-MAR-2023
DEFINITION  rap guanine nucleotide exchange factor 3 isoform X6 [Homo sapiens].
ACCESSION   XP_054226747
VERSION     XP_054226747.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370772.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..495
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..495
                     /product="rap guanine nucleotide exchange factor 3 isoform
                     X6"
                     /calculated_mol_wt=55798
     CDS             1..495
                     /gene="RAPGEF3"
                     /gene_synonym="bcm910; CAMP-GEFI; EPAC; EPAC1; HSU79275"
                     /coded_by="XM_054370772.1:97..1584"
                     /db_xref="GeneID:10411"
                     /db_xref="HGNC:HGNC:16629"
                     /db_xref="MIM:606057"
ORIGIN      
        1 mpsaqlcaal lhhfhvepag gseqerstyv cnkrqqilrl vsqwvalygs mlhtdpvats
       61 flqklsdlvg rdtrlsnllr eqwperrrch rlengcgnas pqmkarnlpv wlpnqdeplp
      121 gsscaiqvgd kvpydicrpd hsvltlqlpv tasvrevmaa laqedgwtkg qvlvkvnsag
      181 daiglqpdar gvatslglne rlfvvnpqev heliphpdql gptvgsaegl dlvsakdlag
      241 qltdhdwslf nsihqvelih yvlgpqhlrd vttanlerfm rrfnelqywv atelclcpvp
      301 gpraqllrkf iklaahlkeq knlnsffavm fglsnsaisr lahtwerlph kvrklysale
      361 rlldpswnhr vyrlalakls ppvipfmpll lkdmtfiheg nhtlvenlin fekmrmmara
      421 armlhhcrsh npvplsplrs rvshlhedsq varistcseq slstrspast wayvqqlkvi
      481 dnqrelsrls relep
//
LOCUS       XP_054230730             999 aa            linear   PRI 20-MAR-2023
DEFINITION  centromere protein J isoform X5 [Homo sapiens].
ACCESSION   XP_054230730
VERSION     XP_054230730.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374755.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..999
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..999
                     /product="centromere protein J isoform X5"
                     /calculated_mol_wt=113809
     CDS             1..999
                     /gene="CENPJ"
                     /gene_synonym="BM032; CENP-J; CPAP; LAP; LIP1; MCPH6;
                     Sas-4; SASS4; SCKL4"
                     /coded_by="XM_054374755.1:168..3167"
                     /db_xref="GeneID:55835"
                     /db_xref="HGNC:HGNC:17272"
                     /db_xref="MIM:609279"
ORIGIN      
        1 mflmptssel nsgqnfltqw mtnpsragvi lnrgfpilea dkekraavdi stsfpikgth
       61 fsdsfsfine edslleeqkl esnnpykpqs dksethtafp cikkgpqvaa chsapghqee
      121 nkndfipdla sefkegaykd plfkkleqlk evqqkkqeql krqqleqlqr lmeeqekllt
      181 mvsgqctlpg lsllpddqsq khrspgnttt geratccfps yvypdptqee typsnilshe
      241 qsnfcrtahg dfvltskras pnlfseaqyq eapveknnlk eenrnhptge silcwekvte
      301 qiqeandknl qkhddsseva nieerpikaa igerkqtfed yleeqiqlee qelkqkqlke
      361 aegplpikak pkqpflkrge glarftnaks kfqkgkeskl vtnqstsedq plfkmdrqql
      421 qrktalknke lcadnpilkk dskartksgs vtlsqkpkml kcsnrkslsp sglkiqtgkk
      481 cdgqfrdqik fenkvtsnnk envtecpkpc dtgctgwnkt qgkdrlplst gpasrlaaks
      541 piretmkese ssldvslqkk letwerekek enleldeflf leqaadeisf ssnssfvlki
      601 lerdqqickg hrmsstpvka vpqktnpadp ishcnrsedl dhtarekese cevapkqlhs
      661 lssadelreq pckirkavqk stsenqtewn arddegvpns dsstdseeql dvtikpsted
      721 rergissred spqvcddkgp fkdtrtqedk rrdvdldlsd kdyssdesim esikhkvsep
      781 srssslslsk mdfddertwt dleenlcnhd vvlgnestyg tpqtcypnne igildktikr
      841 kiapvkrged lsksrrsrsp ptselmmkff pslkpkpksd shlgnelkln isqdqppgdn
      901 arsqvlreki ieleteiekf kaenaslakl rieresalek lrkeiadfeq qkakelarie
      961 efkkeemrkl qkerkvfeky ttaartfpdk kereeiqrl
//
LOCUS       XP_054231072             647 aa            linear   PRI 20-MAR-2023
DEFINITION  sciellin isoform X17 [Homo sapiens].
ACCESSION   XP_054231072
VERSION     XP_054231072.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375097.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..647
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..647
                     /product="sciellin isoform X17"
                     /calculated_mol_wt=72671
     CDS             1..647
                     /gene="SCEL"
                     /coded_by="XM_054375097.1:139..2082"
                     /db_xref="GeneID:8796"
                     /db_xref="HGNC:HGNC:10573"
                     /db_xref="MIM:604112"
ORIGIN      
        1 msnvtlrkms ptgnemkstt qgttrkqqdf hevnkrrtfl qdnswikkrp eeekdenygr
       61 vvlnrhnshd aldrkvnerd vpkatisrys sddtldrisd rndaaktyka ntldnqltnr
      121 smsmfrslev tklqpggsln antsntiast sattpvkkkr qswfpppppg ynassstgtr
      181 rrepgvhppi ppkpsspvss pnqlrqdnrq ihppkpgvyt etnrsaerni seeldnlikm
      241 nkslnraksl esliymstrt dkdgkgiqsl gspikvnqrt dknekgqnle svakvnarmn
      301 ktsrrsedld natevnpkgh enttgkkdld glikvdpetn knitrgqsld nlikvtpevk
      361 rsnqgskdln nfikvypgte ksteggqsld slikvtpern rtnqgnqdle nlikvipsan
      421 ksseqgldeh invspkavkn tdgkqdldkl ikvnpeiftn nqrnqdlanl ikvnpavirn
      481 nqsqdldnli kvkpsalrnt nrdqnlenli evnshvsenk ngssntgakq agpqdtvvyt
      541 rtyvensksp kdgyqenisg kyiqtvysts drsvierdmc tycrkplgve tkmildelqi
      601 cchstcfkce ickqplenlq agdsiwiyrq tihcepcysk imakwip
//
LOCUS       XP_054234735             852 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin-protein ligase E3A isoform X3 [Homo sapiens].
ACCESSION   XP_054234735
VERSION     XP_054234735.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378760.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..852
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..852
                     /product="ubiquitin-protein ligase E3A isoform X3"
                     /calculated_mol_wt=97837
     CDS             1..852
                     /gene="UBE3A"
                     /gene_synonym="ANCR; AS; E6-AP; EPVE6AP; HPVE6A; PIX1"
                     /coded_by="XM_054378760.1:526..3084"
                     /db_xref="GeneID:7337"
                     /db_xref="HGNC:HGNC:12496"
                     /db_xref="MIM:601623"
ORIGIN      
        1 mkraaakhli eryyhqlteg cgneactnef cascptflrm dnnaaaikal elykinaklc
       61 dphpskkgas saylenskga pnnscseikm nkkgaridfk dvtylteekv yeilelcrer
      121 edysplirvi grvfssaeal vqsfrkvkqh tkeelkslqa kdedkdedek ekaacsaaam
      181 eedseasssr igdssqgdnn lqklgpddvs vdidairrvy trllsnekie taflnalvyl
      241 spnvecdlty hnvysrdpny lnlfiivmen rnlhspeyle malplfckam sklplaaqgk
      301 lirlwskyna dqirrmmetf qqlitykvis nefnsrnlvn dddaivaask clkmvyyanv
      361 vggevdtnhn eeddeepipe sseltlqell geerrnkkgp rvdpletelg vktldcrkpl
      421 ipfeefinep lnevlemdkd ytffkveten kfsfmtcpfi lnavtknlgl yydnrirmys
      481 erritvlysl vqgqqlnpyl rlkvrrdhii ddalvrlemi amenpadlkk qlyvefegeq
      541 gvdeggvske ffqlvveeif npdigmftyd estklfwfnp ssfetegqft ligivlglai
      601 ynncildvhf pmvvyrklmg kkgtfrdlgd shpvlyqslk dlleyegnve ddmmitfqis
      661 qtdlfgnpmm ydlkengdki pitnenrkef vnlysdyiln ksvekqfkaf rrgfhmvtne
      721 splkylfrpe eiellicgsr nldfqaleet teydggytrd svlirefwei vhsftdeqkr
      781 lflqfttgtd rapvgglgkl kmiiakngpd terlptshtc fnvlllpeys skeklkerll
      841 kaityakgfg ml
//
LOCUS       XP_054234960            1097 aa            linear   PRI 20-MAR-2023
DEFINITION  multiple epidermal growth factor-like domains protein 11 isoform X1
            [Homo sapiens].
ACCESSION   XP_054234960
VERSION     XP_054234960.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378985.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1097
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1097
                     /product="multiple epidermal growth factor-like domains
                     protein 11 isoform X1"
                     /calculated_mol_wt=116836
     CDS             1..1097
                     /gene="MEGF11"
                     /coded_by="XM_054378985.1:31..3324"
                     /db_xref="GeneID:84465"
                     /db_xref="HGNC:HGNC:29635"
                     /db_xref="MIM:612454"
ORIGIN      
        1 mvlsltglia fsflqatlal npedpnvcsh wesyavtvqe syahpfdqiy ytrctdilnw
       61 fkctrhrisy ktayrrglrt myrrrsqccp gyyesgdfci plcteecvhg rcvspdtchc
      121 epgwggpdcs sgcdsdhwgp hcsnrcqcqn galcnpitga cvcaagfrgw rceelcapgt
      181 hgkgcqlpcq crhgascdpr ageclcapgy tgvyceelcp pgshgahcel rcpcqnggtc
      241 hhitgecacp pgwtgavcaq pcppgtfgqn csqdcpchhg gqcdhvtgqc hctagymgdr
      301 cqeecpfgsf gfqcsqrcdc hnggqcsptt gacecepgyk gprcqerlcp eglhgpgctl
      361 pcpcdadnti schpvtgact cqpgwsghhc nescpvgyyg dgcqlpctcq ngadchsitg
      421 gctcapgfmg evcavscaag tygpncssic scnnggtcsp vdgsctckeg wqgldctlpc
      481 psgtwglncn esctcangaa cspidgscsc tpgwlgdtce lpcpdgtfgl ncsehcdcsh
      541 adgcdpvtgh ccclagwtgi rcdstcppgr wgpncsvscs cenggscspe dgscecapgf
      601 rgplcqricp pgfyghgcaq pcplcvhssr pchhisgice clpgfsgalc nqvcaggyfg
      661 qdcaqlcsca nngtcspidg scqcfpgwig kdcsqgcpaa ffgkdcgrvc qcqngascdh
      721 isgkctcrtg ftgqhceqrc apgtfgygcq qlcecmnnst cdhvtgtcyc spgfkgircd
      781 qaalmmeeln pytkispalg aerhsvgavt gimlllfliv vllglfawhr rrqkekgrdl
      841 aprvsytpam rmtstdysls dlsqssshah cfsnssyhal acggpatsqa stldrnsptk
      901 lsnksldrdt agwtpysyvn vldshfqisa learyppedf yielrhlsrp aephspgacg
      961 mdrrqntyim dkgfkdymke svcssstcsl nssenpyati kdppiltckl pessyvemks
     1021 pvhmgspytd vpslstsnkn iyeveptvsv vqegcghnss yiqnaydlpr nshipghydl
     1081 lpvrqspang psqdkqs
//
LOCUS       XP_054235971             212 aa            linear   PRI 20-MAR-2023
DEFINITION  PDZ domain-containing protein 9 isoform X1 [Homo sapiens].
ACCESSION   XP_054235971
VERSION     XP_054235971.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379996.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..212
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..212
                     /product="PDZ domain-containing protein 9 isoform X1"
                     /calculated_mol_wt=24296
     CDS             1..212
                     /gene="PDZD9"
                     /gene_synonym="C16orf65"
                     /coded_by="XM_054379996.1:70..708"
                     /db_xref="GeneID:255762"
                     /db_xref="HGNC:HGNC:28740"
ORIGIN      
        1 mqkashknkk gdvlisvgha nvlgytlref lqllqhitig tvlqikvyrd finipeewqe
       61 iydlipeakf pvtstpkkie lakdesftss ddnenvdldk rlqyyrypws tvhhparrpi
      121 sisrdwhgyk kknhtisvgk dincdvmihr ddkkevraps pywimvkqdn essssstsst
      181 sdafwledca qveegkaqlv skdqdttafp nt
//
LOCUS       XP_054236007             527 aa            linear   PRI 20-MAR-2023
DEFINITION  copine-7 isoform X7 [Homo sapiens].
ACCESSION   XP_054236007
VERSION     XP_054236007.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380032.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..527
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..527
                     /product="copine-7 isoform X7"
                     /calculated_mol_wt=58529
     CDS             1..527
                     /gene="CPNE7"
                     /coded_by="XM_054380032.1:103..1686"
                     /db_xref="GeneID:27132"
                     /db_xref="HGNC:HGNC:2320"
                     /db_xref="MIM:605689"
ORIGIN      
        1 mgpaasavrr tiswgawsap wgryddlclp watagavrww tcrgghtqgw qivaqkkvtr
       61 plllkfgrna gkstitviae disgnngyve lsfrarkldd kdlfsksdpf lelyrvnddq
      121 glqlvyrtev vknnlnpvwe afkvslsslc sceetrplkc lvwdydsrgk hdfigefstt
      181 feemqkafee gqaqwdcvnp kykqkrrsyk nsgvvvladl kfhrvysfld yimggcqihf
      241 tvaidftasn gdprnscslh yinpyqpney lkalvsvgei cqdydsdkrf salgfgarip
      301 pkyevshdfa infnpeddec egiqgvveay qnclprvqly gptnvapiis kvarvaaaee
      361 stgkasqyyi lliltdgvvt dmadtreaiv rasrlpmsii ivgvgnadft dmqvldgddg
      421 vlrsprgepa lrdivqfvpf relknqrtaq gapgihhaas pvaanlcdpa rhaqhtripc
      481 gagqvragrg peagggvlqp qrpapekpgr pcrrgqprlh tvkmwra
//
LOCUS       XP_054236177             553 aa            linear   PRI 20-MAR-2023
DEFINITION  hyaluronan synthase 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054236177
VERSION     XP_054236177.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380202.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..553
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..553
                     /product="hyaluronan synthase 3 isoform X1"
                     /calculated_mol_wt=62867
     CDS             1..553
                     /gene="HAS3"
                     /coded_by="XM_054380202.1:298..1959"
                     /db_xref="GeneID:3038"
                     /db_xref="HGNC:HGNC:4820"
                     /db_xref="MIM:602428"
ORIGIN      
        1 mpvqlttalr vvgtslfala vlggilaayv tgyqfihtek hylsfglyga ilglhlliqs
       61 lfaflehrrm rragqalklp sprrgsvalc iaayqedpdy lrkclrsaqr isfpdlkvvm
      121 vvdgnrqeda ymldifhevl ggteqagffv wrsnfheage geteaslqeg mdrvrdvvra
      181 stfscimqkw ggkrevmyta fkalgdsvdy iqvcdsdtvl dpactiemlr vleedpqvgg
      241 vggdvqilnk ydswisflss vrywmafnve racqsyfgcv qcisgplgmy rnsllqqfle
      301 dwyhqkflgs kcsfgddrhl tnrvlslgyr tkytarskcl tetptkylrw lnqqtrwsks
      361 yfrewlynsl wfhkhhlwmt yesvvtgffp ffliatviql fyrgriwnil lflltvqlvg
      421 iikatyacfl rgnaemifms lysllymssl lpakifaiat inksgwgtsg rktivvnfig
      481 lipvsiwvav llgglaytay cqdlfsetel aflvsgaily gcywvallml ylaiiarrcg
      541 kkpeqyslaf aev
//
LOCUS       XP_054171640             334 aa            linear   PRI 20-MAR-2023
DEFINITION  dehydrogenase/reductase SDR family member 7B isoform X4 [Homo
            sapiens].
ACCESSION   XP_054171640
VERSION     XP_054171640.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315665.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..334
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..334
                     /product="dehydrogenase/reductase SDR family member 7B
                     isoform X4"
                     /calculated_mol_wt=35844
     CDS             1..334
                     /gene="DHRS7B"
                     /gene_synonym="CGI-93; SDR32C1"
                     /coded_by="XM_054315665.1:9..1013"
                     /db_xref="GeneID:25979"
                     /db_xref="HGNC:HGNC:24547"
                     /db_xref="MIM:616160"
ORIGIN      
        1 mvspatrqrp gprmdpihpa pclpqakwsp gpgdqgwpvm lcqvlkesqk ctrrkslpkv
       61 kamdfitsta ilpllfgclg vfglfrllqw vrgkaylrna vvvitgatsg lgkecakvfy
      121 aagaklvlcg rnggaleeli reltashatk vqthkpylvt fdltdsgaiv aaaaeilqcf
      181 gyvdilvnna gisyrgtimd ttvdvdkrvm etnyfgpval tkallpsmik rrqghivais
      241 siqgkmsipf rsayaaskha tqaffdclra emeqyeievt vispgyihtn lsvnaitadg
      301 ssyghhhspg pkpcgggpgc scccgeeeer cdpg
//
LOCUS       XP_054174466            1464 aa            linear   PRI 20-MAR-2023
DEFINITION  rotatin isoform X13 [Homo sapiens].
ACCESSION   XP_054174466
VERSION     XP_054174466.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318491.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1464
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1464
                     /product="rotatin isoform X13"
                     /calculated_mol_wt=164229
     CDS             1..1464
                     /gene="RTTN"
                     /gene_synonym="MSSP"
                     /coded_by="XM_054318491.1:30..4424"
                     /db_xref="GeneID:25914"
                     /db_xref="HGNC:HGNC:18654"
                     /db_xref="MIM:610436"
ORIGIN      
        1 mvlaglirkl ghqlaeirer alksilckie hnlicyadli qerqlflhll ewfnfpsvpm
       61 keevlnllsr lvkyppavqh lvdvgavefl sklrsnvepn lqaeidgild glfllpsevp
      121 alssaayqtn qtelsknpei ltgyfpqdks nfqqmevppr pvvnqtvkcl kfstfpwlpl
      181 tttdrhvlss nesslrssnh tliwntcell kdvimqdfpa eiflqrpkiv qsllsllkla
      241 fggdgkhrla lqsvsclqql cmylrnrlnf hrdpgffsnk hdtvsqnssl sycheargth
      301 hsqnpspgss sprpsvvgrt gqrprgdgqd wdaasssgss shahvnsris vhspldmghi
      361 dlpeletedt lelqfqqlsl pqfcvsiles avpllrtgsr qviirvlell tedmtligea
      421 istdiwddss lfgidmkekl llvlgalget mcyhkssisl eqpevmlvhh rmafisislf
      481 avrllqtllp vekaseflse pmstalflls ldmpisleyp niheavvayl eqlnsenysi
      541 ykrtaeavys iectcnflsd igkegeknll elveladqal rsfsyhqhfp likeiisics
      601 kiwksaqasp llqgesqkvl lhmlshplpr vkaetyhccl eitkeclgvh nvtkpvsslc
      661 ngihfllhpk vlyeisvfgi qepesevnta akaillyllq grlmmtaltw nkfieslcpv
      721 ipilqgyadt edplgncill lskassdtee mlpcttrlks mlrlllvkkp svrslalkll
      781 afhltseega dtkrplidar vlsrvtdlfi gkkpielrld drrelvikle tvekvyeift
      841 sddvdlvlrk saaeqlavim qdikmhavvk klclidkiie ylnecvsqdg kvveclvqpc
      901 ltllrkvlcg dpvmrvslsq qsslltvlfr vslifhedcs vvtevgalfc lllfdevsrm
      961 dmwsvnpsnk pslpsvfslp vsvfrryhlp vhvighhavs pysivlplsa dclalkpvsd
     1021 mlriawnlsw yhgsdnllkq mnsetktqei ldalklsted iltlkithma sglqdclhsi
     1081 vqaathrevr aavtrmsfyl lndrlslkgc pgpcgvtlks lawhtalnrf lqvlpacted
     1141 ekllidiihf lnklikeqrk nsslellnwi lelllrhsan plldllvlte sqareetddi
     1201 rtavrqqlqk elialfdtll lnfmevtdrk csellyvfqt qlalkllqcl kvtdaphfyg
     1261 lpslertlrg manltafpgw sshspltkpl dicvkylsgl levitsfyve rggnamsfmg
     1321 kgvtkstilc llhlshemma qagslewmsl wflplgshse ehiptqqgla wliplwvdrd
     1381 pevrftslgl gsalttletg cvalanscqn isgglwgtvv nilldqsecs mvrreaafil
     1441 qnllvipmpt eiikdytwqv asks
//
LOCUS       XP_054174534            1525 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 30B isoform X6 [Homo
            sapiens].
ACCESSION   XP_054174534
VERSION     XP_054174534.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318559.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1525
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1525
                     /product="ankyrin repeat domain-containing protein 30B
                     isoform X6"
                     /calculated_mol_wt=172882
     CDS             1..1525
                     /gene="ANKRD30B"
                     /gene_synonym="NY-BR-1.1"
                     /coded_by="XM_054318559.1:249..4826"
                     /db_xref="GeneID:374860"
                     /db_xref="HGNC:HGNC:24165"
                     /db_xref="MIM:616565"
ORIGIN      
        1 mkrllaaagk gvrgpeppnp fservytekd ygtiyfgdlg kihtaasrgq vqklekmtvg
       61 kkpvnlnkrd mkkrtalhwa cvnghaevvt flvdrkcqln vldgegrtpl mkalqcerea
      121 canilidaga dlnyvdvygn talhyavyse nllmvatlls ygavievqnk asltplllai
      181 qkrskqtvef lltknanana fneskctalm laicegssei vgmllqqnvd vfaedihgit
      241 aeryaaacgv nyihqqlleh irklpknpqn tnpegtstgt pdeaaplaer tpdtaeslle
      301 ktpdeaarlv egtsakiqcl gkatsgkfeq steetprkil rptketsekf swpakersrk
      361 itweeketsv ktecvagvtp nktevlekgt snmiacptke tstkastnvd vssvepifsl
      421 fgtrtiensq ctkveedfnl atkiisksaa qnytclpdat yqkdiktinh kiedqmlpse
      481 skreedeeys wdsgslfess aktqvcipes myqkvmeinr eveelpekps afkpavemqk
      541 tvpnkafelk neqtlraaqm fpseskqkdd eenswdsesp cetvsqkdvy lpkathqkef
      601 dtlsgklees pvkdgllkpt cgrkvslpnk alelkdretf kaespdkdgl lkptcgrkvs
      661 lpnkalelkd retlkaespd ndgllkptcg rkvslpnkal elkdretfka aqmfpseskq
      721 kddeenswdf esfleallqn dvclpkathq kefdtlsgkl eespdkdgll kptcgrkvsl
      781 pnkalelkdr etlkaespdk dgllkptcvr kvslpnkale lkdretlkaa qmfpseskqk
      841 ddeenswdfe sfletllqnd vclpkathqk efdtlsgkle espdkdgllk ptcgmkislp
      901 nkalelkdre tfkaedvssv estfslfgkp ttensqstkv eedfnlttke gatktvtgqq
      961 erdigiiera pqdqtnkmpt selgrkedtk stsdseiisv sdtqnyeclp eatyqkeikt
     1021 tngkieespe kpshfepate mqnsvpnkgl ewknkqtlra dsttlskild alpscergre
     1081 lkkdnceqit akmeqtknkf cvlqkelsea keiksqlenq kakweqelcs vrltlnqeee
     1141 krrnvdilke kirpeeqlrk klevkqqleq tlriqdielk svtsnlnqvs hthesendlf
     1201 hencmlkkei amlklevatl khqhqvkenk yfedikilqe knaelqmtlk lkqktvtkra
     1261 sqyreqlkvl taentmltsk lkekqdkeil eteieshhpr lasalqdhdq svtsrknqel
     1321 afhsagdapl qgimnvdvsn tiynnevlhq plyeaqrksk spkinlnyag ddlrenalvs
     1381 ehaqrdrcet qcqmkkaehm yqneqdnvdk hteqqesleq klfqlesknr wlrqqlvyah
     1441 kkvnkskvti niqfpemkmq rhlkekneev fnygnhlker idqyekekae revivrqlqk
     1501 kladlnkqce aslkvtshsh slrhq
//
LOCUS       XP_054197713             963 aa            linear   PRI 20-MAR-2023
DEFINITION  CRACD-like protein isoform X4 [Homo sapiens].
ACCESSION   XP_054197713
VERSION     XP_054197713.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341738.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..963
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..963
                     /product="CRACD-like protein isoform X4"
                     /calculated_mol_wt=102098
     CDS             1..963
                     /gene="CRACDL"
                     /gene_synonym="C2orf55; KIAA1211L"
                     /coded_by="XM_054341738.1:102..2993"
                     /db_xref="GeneID:343990"
                     /db_xref="HGNC:HGNC:33454"
ORIGIN      
        1 mistrvmdik lreaaeglge dstgkkkskf ktfkkffgkk krkespsstg sstwkqsqtr
       61 neviaiesgp vgydsedele esrgtlgsra lshdsifipe sgqdatrpvr vfsqenvcdr
      121 ikalqlkiqc nvkmgppppp gglpakrged agmsseddgl prsppemsll hdvgpgttik
      181 vsvvspdhvs dstvsarisd nslapvadfs ypaessscld nsaakhklqv kprnqrsskm
      241 rrlssraqse slsdltctpe eeeneekpll evspeerpss gqqdvapdrg pepgppaplp
      301 ppggararra rlqhssalta sveeggvpge dpssrpatpe laepesaptl rveppsppeg
      361 ppnpgpdggk qdgeappagp capatdkaee vvcapedvas pfptaipegd ttppetdpaa
      421 tseapsardg persvpkeae ptppvlpdee kgppgpapep ereaeteper gagteperig
      481 tepstapaps ppapksclkh rpaaasegpa aspplaaaes ppvepgpgsl daeaaaperp
      541 kaeraeappa gaeraaperk aerggaelrg akkfsvsscr arprpgvsrp lerasgrlpl
      601 arsgpvwrse aalddlqglp epqhakpgpr klaergpqds gdraaspagp rkspqeaaaa
      661 pgtrepcpaa qepapsedrn pfpvklrsts lslkyrdgas qevkgvkrys aevrlerslt
      721 vlpkeekcpl gtapalrgtr apsdqgkgka rppeplsskp plprkpllqs ftlphqpapp
      781 dagpgerepr keprtaekrp lrrgaekslp paatgpgadg qpappwitvt rqkrrgtldq
      841 ppnqedkpga rtlksepgkq akvpergqep vkqadfvrsk sflitpvkpa vdrkqgakln
      901 fkeglqrgis lshqnlaaqs avmmekelhq lkrasyastd qpswmelark ksqawsdmpq
      961 iik
//
LOCUS       XP_054197773             114 aa            linear   PRI 20-MAR-2023
DEFINITION  formiminotransferase N-terminal subdomain-containing protein
            isoform X10 [Homo sapiens].
ACCESSION   XP_054197773
VERSION     XP_054197773.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341798.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..114
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..114
                     /product="formiminotransferase N-terminal
                     subdomain-containing protein isoform X10"
                     /calculated_mol_wt=12054
     CDS             1..114
                     /gene="FTCDNL1"
                     /gene_synonym="FONG"
                     /coded_by="XM_054341798.1:130..474"
                     /db_xref="GeneID:348751"
                     /db_xref="HGNC:HGNC:48661"
                     /db_xref="MIM:614308"
ORIGIN      
        1 msssrvglrl aacllnvsea grkyivenia kaalldkngk khpqvsvlni fsdqdykrsv
       61 itiatsvdkl gssvlaacle afqaidmevq egihpclgav dlipiyplsg vtve
//
LOCUS       XP_054198437             586 aa            linear   PRI 20-MAR-2023
DEFINITION  dual specificity calcium/calmodulin-dependent 3',5'-cyclic
            nucleotide phosphodiesterase 1A isoform X2 [Homo sapiens].
ACCESSION   XP_054198437
VERSION     XP_054198437.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342462.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..586
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..586
                     /product="dual specificity calcium/calmodulin-dependent
                     3',5'-cyclic nucleotide phosphodiesterase 1A isoform X2"
                     /calculated_mol_wt=66925
     CDS             1..586
                     /gene="PDE1A"
                     /gene_synonym="CAM-PDE 1A; CAM-PDE-1A; HCAM-1; HCAM1;
                     HSPDE1A"
                     /coded_by="XM_054342462.1:55..1815"
                     /db_xref="GeneID:5136"
                     /db_xref="HGNC:HGNC:8774"
                     /db_xref="MIM:171890"
ORIGIN      
        1 mgssateiee lenttfkylt geqtekmwqr lkgilrclvk qlergdvnvv dlkknieyaa
       61 svleavyide trrlldtede lsdiqtdsvp sevrdwlast ftrkmgmtkk kpeekpkfrs
      121 ivhavqagif vermyrktyh mvglaypaav ivtlkdvdkw sfdvfalnea sgehslkfmi
      181 yelftrydli nrfkipvscl itfaealevg yskyknpyhn lihaadvtqt vhyimlhtgi
      241 mhwlteleil amvfaaaihd yehtgttnnf hiqtrsdvai lyndrsvlen hhvsaayrlm
      301 qeeemnilin lskddwrdlr nlviemvlst dmsghfqqik nirnslqqpe gidraktmsl
      361 ilhaadishp akswklhyrw tmalmeeffl qgdkeaelgl pfsplcdrks tmvaqsqigf
      421 idfiveptfs lltdstekiv iplieeaska etssyvasss ttivglhiad alrrsntkgs
      481 msdgsyspdy slaavdlksf knnlvdiiqq nkerwkelaa qalssdhvly hvsstieqey
      541 afdrvelsee tpcvpvqtna yhlfflrael mgcsasdfwc lllrar
//
LOCUS       XP_054198813             590 aa            linear   PRI 20-MAR-2023
DEFINITION  acid-sensing ion channel 4 isoform X6 [Homo sapiens].
ACCESSION   XP_054198813
VERSION     XP_054198813.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342838.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..590
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..590
                     /product="acid-sensing ion channel 4 isoform X6"
                     /calculated_mol_wt=63632
     CDS             1..590
                     /gene="ASIC4"
                     /gene_synonym="ACCN4; BNAC4"
                     /coded_by="XM_054342838.1:1826..3598"
                     /db_xref="GeneID:55515"
                     /db_xref="HGNC:HGNC:21263"
                     /db_xref="MIM:606715"
ORIGIN      
        1 mlsgaagaar rggaalapsl trslagthag adscagadkg shketieerd krqqrqqrqr
       61 qhqgcgaags gsdsptsgph pvpvlfplal sleeqplppl plgrapglla regqgreala
      121 spssrgqmpi eivckikfae edakpkekea gdeqsllgav apgaaprdla tfaststlhg
      181 lgracgpgph glrrtlwala lltslaafly qaaglargyl trphlvamdp aapapvagfp
      241 avtlcninrf rhsalsdadi fhlanltglp pkdrdghraa glrypepdmv dilnrtghql
      301 admlkscnfs ghhcsasnfs vvytrygkcy tfnadprssl psraggmgsg leimldiqqe
      361 eylpiwretn etsfeagirv qihsqeeppy ihqlgfgvsp gfqtfvscqe qrltylpqpw
      421 gncraeselr epelqgysay svsacrlrce keavlqrchc rmvhmpgnet icppniyiec
      481 adhtlgkmhc wlsvwvrqtp svhrsclics ssiypsihrf ahspdlyslc wvlevrvgat
      541 alpleslhpg ravdshshta rqllergasg vlqgpkegca alawegreds
//
LOCUS       XP_054199366            1850 aa            linear   PRI 20-MAR-2023
DEFINITION  anaphase-promoting complex subunit 1 isoform X4 [Homo sapiens].
ACCESSION   XP_054199366
VERSION     XP_054199366.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343391.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1850
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1850
                     /product="anaphase-promoting complex subunit 1 isoform X4"
                     /calculated_mol_wt=205643
     CDS             1..1850
                     /gene="ANAPC1"
                     /gene_synonym="APC1; MCPR; TSG24"
                     /coded_by="XM_054343391.1:691..6243"
                     /db_xref="GeneID:64682"
                     /db_xref="HGNC:HGNC:19988"
                     /db_xref="MIM:608473"
ORIGIN      
        1 mviwskgsks qalavykaft vdspvqqalw cdfiisqdks ekayssneve kcicilqssc
       61 inmhsiegkd yiaslpfqva nvwptkygll fersasshev ppgspreplp tmfsmlhpld
      121 eitplvcksg slfgssrvqy vvdhamkivf lntdpsivmt ydavqnvhsv wtlrrvksee
      181 envvlkfseq ggtpqnvats ssltahlrsl skgdspvtsp fqnyssihsq srstsspslh
      241 srspsisnma alsrahspal gvhsfsgvqr fnisshnqsp krhsishspn snsngsflap
      301 etepivpelc idhlwtetit nireknsqas kvfitsdlcg qkflcflves qlqlrcvkfq
      361 esndktqlif gsvtnipakd aapvekidtm lvlegsgnlv lytgvvrvgk vfipglpaps
      421 ltmsntmprp stpldgvstp kplskllgsl devvllspvp elrdssklhd slynedctfq
      481 qlgtyihsir dpvhnrvtle lsngsmvrit ipeiatselv qtclqaikfi lpkeiavqml
      541 vkwynvhsap ggpsyhsewn lfvtclmnmm gyntdrlawt rnfdfegsls pviapkkarp
      601 setgsdddwe yllnsdyhqn veshllnrsl clspseasqm kdedfsqnls ldsstllfth
      661 ipaiffvlhl vyeelklntl mgegicslve llvqlardlk lgpyvdhyyr dyptlvrttg
      721 qvctidpgqt gfmhhpsfft seppsiyqwv ssclkgegmp pypylpgice rsrlvvlsia
      781 lyilgdeslv sdessqyltr itiapqklqv eqeenrfsfr hstsvsslae rlvvwmtnvg
      841 ftlrdletlp fgialpirda iyhcreqpas dwpeavclli grqdlskqac egnlpkgkss
      901 vtqvlssdvp sgteteeedd gmndmnhevm sliwsedlrv qdvrrllqsa hpvrvnvvqy
      961 pelsdhefie ekenrllqlc qrtmalpvgr gmftlfsyhp vpteplpipk lnltgrappr
     1021 nttvdlnsgn idvppnmtsw asfhngvaag lkiapasqid sawivynkpk haelaneyag
     1081 flmalglngh ltklatlnih dyltkghemt siglllgvsa aklgtmdmsi trllsihipa
     1141 llpptsteld vphnvqvaav vgiglvyqgt ahrhtaevll aeigrppgpe meyctdresy
     1201 slaaglalgm vclghgsnli gmsdlnvpeq lyqymvgghr rfqtgmhrek hkspsyqike
     1261 gdtinvdvtc pgatlalami ylktnnrsia dwlrapdtmy lldfvkpefl llrtlarcli
     1321 lwddilpnsk wvdsnvpqii rensislsei elpcsedlnl etlsqahvyi iagaclslgf
     1381 rfagsenlsa fnclhkfakd fmtylsapna svtgphnlet clsvvllsla mvmagsgnlk
     1441 vlqlcrflhm ktggemnygf hlahhmalgl lflgggrysl stsnssiaal lcalyphfpa
     1501 hstdnryhlq alrhlyvlaa eprllvpvdv dtntpcyall evtykgtqwy eqtkeelmap
     1561 tllpelhllk qikvkgpryw ellidlskgt qhlksilskd gvlyvklrag qlsykedpmg
     1621 wqsllaqtva nrnsearafk petisaftsd pallsfaeyf ckptvnmgqk qeildlfssv
     1681 lyecvtqetp emlpayiamd qairrlgrre msetselwqi klvleffssr shqerlqnhp
     1741 krglfmnsef lpvvkctidn tldqwlqvgg dmcvhaylsg qpleesqlsm lacflvyhsv
     1801 papqhlppig legstsfael lfkfkqlkmp vrallrlapl llgnpqpmvm
//
LOCUS       XP_054200329             541 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-1 receptor-like 2 isoform X7 [Homo sapiens].
ACCESSION   XP_054200329
VERSION     XP_054200329.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344354.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..541
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..541
                     /product="interleukin-1 receptor-like 2 isoform X7"
                     /calculated_mol_wt=61257
     CDS             1..541
                     /gene="IL1RL2"
                     /gene_synonym="IL-1Rrp2; IL-36R; IL1R-rp2; IL1RRP2"
                     /coded_by="XM_054344354.1:77..1702"
                     /db_xref="GeneID:8808"
                     /db_xref="HGNC:HGNC:5999"
                     /db_xref="MIM:604512"
ORIGIN      
        1 mwslllcgls ialplsvtad gckdifmkne ilsasqpfaf nctfppitsg evsvtwykns
       61 skipvskiiq srihqdetwi lflpmewgds gvyqcvikgr dschrihvnl tvfekhwcdt
      121 sigglpnlsd eykqilhlgk ddsltchlhf pkscvlgpik wykdcneikg erftvletrl
      181 lvsnvsaedr gnyacqailt hsgkqyevln gitvsitera gyggsvpkii ypknhsievq
      241 lgttlivdcn vtdtkdntnl rcwrvnntlv ddyydeskri regvethvsf rehnlytvni
      301 tflevkmedy glpfmchagv stayiilqlp apdfraylig glialvavav svvyiynifk
      361 idivlwyrsa fhstetivav anvidenvkl crrlivivvp eslgfgllkn lseeqiavys
      421 aliqdgmkvi lielekiedy tvmpesiqyi kqkhgairwh gdfteqsqcm ktkfwktvry
      481 hmpprrcrpf ppvqllqhtp cyrtagervg ghevchalme glslrggsql eedtfhrgrl
      541 l
//
LOCUS       XP_054180216             219 aa            linear   PRI 20-MAR-2023
DEFINITION  ectonucleoside triphosphate diphosphohydrolase 6 isoform X11 [Homo
            sapiens].
ACCESSION   XP_054180216
VERSION     XP_054180216.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324241.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..219
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..219
                     /product="ectonucleoside triphosphate diphosphohydrolase 6
                     isoform X11"
                     /calculated_mol_wt=23157
     CDS             1..219
                     /gene="ENTPD6"
                     /gene_synonym="CD39L2; dJ738P15.3; IL-6SAG; IL6ST2;
                     NTPDase-6"
                     /coded_by="XM_054324241.1:435..1094"
                     /db_xref="GeneID:955"
                     /db_xref="HGNC:HGNC:3368"
                     /db_xref="MIM:603160"
ORIGIN      
        1 mngtdegvsa witinfltgs lktpggssvg mldlgggstq iaflprvegt lqasppgylt
       61 alrmfnrtyk lysysylglg lmsarlailg gvegqpaasl helcaarvse vlqnrvhrte
      121 evkhvdfyaf syyydlaagv glidaekggs lvvgdfeiaa kyggshlere gtclipsvsd
      181 pgdtaaeqpl lmhgphlrqp atpgvrlsqe qsaeahsen
//
LOCUS       XP_054180622             239 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C21orf58 isoform X7 [Homo sapiens].
ACCESSION   XP_054180622
VERSION     XP_054180622.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324647.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..239
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..239
                     /product="uncharacterized protein C21orf58 isoform X7"
                     /calculated_mol_wt=26061
     CDS             1..239
                     /gene="C21orf58"
                     /coded_by="XM_054324647.1:516..1235"
                     /db_xref="GeneID:54058"
                     /db_xref="HGNC:HGNC:1300"
ORIGIN      
        1 mldssaaeqv trltlkllgq kleqerqnve ggpeglhlep gnedrpddal qtalkrrrdl
       61 lqrlreqhll delsraqaws gpsrgalgsa lppelpptgi lptaspspla pdppriilpt
      121 vpqppatiiq qlpqqpliaq ipppqafptq rsgsikedmv ellllqnaqv hqlvlqnwml
      181 kalppalqdp phvpprvpra arprlpavhh hhhhhhavwp pgaatvlqpa pslwtpgpp
//
LOCUS       XP_054181571             195 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-expressed protein 33 isoform X2 [Homo sapiens].
ACCESSION   XP_054181571
VERSION     XP_054181571.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325596.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..195
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..195
                     /product="testis-expressed protein 33 isoform X2"
                     /calculated_mol_wt=21713
     CDS             1..195
                     /gene="TEX33"
                     /gene_synonym="C22orf33; cE81G9.2; EAN57"
                     /coded_by="XM_054325596.1:358..945"
                     /db_xref="GeneID:339669"
                     /db_xref="HGNC:HGNC:28568"
ORIGIN      
        1 mdpqsrslkn agsrsssren ratsgegaqp cqgtddgpsl gaqdqrstpt nqkgsiipnn
       61 irhkfgsnvv dqlvseeqaq kaidevfegq krasswpsrt qnpveissvf sdyydlgynm
      121 rsnlfrgaae etkslmkasy tpevieksvr dlehwhgrkt ddlgrwhqkn amnlnlqkal
      181 eekygensks kssky
//
LOCUS       XP_054181625             351 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclic AMP-dependent transcription factor ATF-4 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054181625
VERSION     XP_054181625.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325650.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..351
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..351
                     /product="cyclic AMP-dependent transcription factor ATF-4
                     isoform X1"
                     /calculated_mol_wt=38428
     CDS             1..351
                     /gene="ATF4"
                     /gene_synonym="CREB-2; CREB2; TAXREB67; TXREB"
                     /coded_by="XM_054325650.1:5654..6709"
                     /db_xref="GeneID:468"
                     /db_xref="HGNC:HGNC:786"
                     /db_xref="MIM:604064"
ORIGIN      
        1 mtemsflsse vlvgdlmspf dpsglgaees lgllddylev akhfkphgfs sdkakagsse
       61 wlavdglvsp snnskedafs gtdwmlekmd lkefdldall giddletmpd dllttlddtc
      121 dlfaplvqet nkqppqtvnp ighlpesltk pdqvapftfl qplplspgvl sstpdhsfsl
      181 elgsevdite gdrkpdytay vamipqcike edtpsdndsg icmspesylg spqhspstrg
      241 spnrslpspg vlcgsarpkp ydppgekmva akvkgekldk klkkmeqnkt aatryrqkkr
      301 aeqealtgec kelekkneal keradslake iqylkdliee vrkargkkrv p
//
LOCUS       XP_054202575            1275 aa            linear   PRI 20-MAR-2023
DEFINITION  macrophage-stimulating protein receptor isoform X15 [Homo sapiens].
ACCESSION   XP_054202575
VERSION     XP_054202575.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346600.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1275
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1275
                     /product="macrophage-stimulating protein receptor isoform
                     X15"
                     /calculated_mol_wt=137495
     CDS             1..1275
                     /gene="MST1R"
                     /gene_synonym="CD136; CDw136; NPCA3; p185-Ron; PTK8; RON;
                     SEA"
                     /coded_by="XM_054346600.1:265..4092"
                     /db_xref="GeneID:4486"
                     /db_xref="HGNC:HGNC:7381"
                     /db_xref="MIM:600168"
ORIGIN      
        1 mellpplpqs fllllllpak paagedwqcp rtpyaasrdf dvkyvvpsfs agglvqamvt
       61 yegdrnesav fvairnrlhv lgpdlksvqs latgpagdpg cqtcaacgpg phgppgdtdt
      121 kvlvldpalp alvscgsslq grcflhdlep qgtavhlaap aclfsahhnr pddcpdcvas
      181 plgtrvtvve qgqasyfyva ssldaavaas fsprsvsirr lkadasgfap gfvalsvlpk
      241 hlvsysieyv hsfhtgafvy fltvqpasvt ddpsalhtrl arlsatepel gdyrelvldc
      301 rfapkrrrrg apeggqpypv lrvahsapvg aqlatelsia egqevlfgvf vtgkdggpgv
      361 gpnsvvcafp idlldtlide gverccespv hpglrrgldf fqspsfcpnp pglealspnt
      421 scrhfpllvs ssfsrvdlfn gllgpvqvta lyvtrldnvt vahmgtmdgr ilqvelvrsl
      481 nyllyvsnfs lgdsgqpvqr dvsrlgdhll fasgdqvfqv pirgpgcrhf ltcgrclraw
      541 hfmgcgwcgn mcgqqkecpg swqqdhcppk ltefhphsgp lrgstrltlc gsnfylhpsg
      601 lvpegthqvt vgqspcrplp kdssklrpvp rkdfveefec eleplgtqav gptnvsltvt
      661 nmppgkhfrv dgtsvlrgfs fmepvliavq plfgpraggt cltlegqsls vgtsravlvn
      721 gtecllarvs egqllcatpp gatvasvpls lqvggaqvpg swtfqyredp vvlsispncg
      781 yinshiticg qhltsawhlv lsfhdglrav esrqcerqlp eqqlcrlpey vvrdpqgwva
      841 gnlsargdga agftlpgfrf lppphppsan lvplkpeeha ikfevcvdge chilgrvvrp
      901 gpdgvpqstl lgillpllll vaalatalvf sywwrrkqlv lppnlndlas ldqtagatpl
      961 pilysgsdyr sglalpaidg ldsttcvhga sfsdsedesc vpllrkesiq lrdldsalla
     1021 evkdvliphe rvvthsdrvi gkghfgvvyh geyidqaqnr iqcaikslsr itemqqveaf
     1081 lregllmrgl nhpnvlalig imlppeglph vllpymchgd llqfirspqr nptvkdlisf
     1141 glqvargmey laeqkfvhrd laarncmlde sftvkvadfg lardildrey ysvqqhrhar
     1201 lpvkwmales lqtyrfttks dvvpsdaaml ggrpssathl rstsggggad svctawgplc
     1261 aaasnlhelg pqhla
//
LOCUS       XP_054203114            1455 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase SETD5 isoform X15 [Homo
            sapiens].
ACCESSION   XP_054203114
VERSION     XP_054203114.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347139.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1455
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1455
                     /product="histone-lysine N-methyltransferase SETD5 isoform
                     X15"
                     /calculated_mol_wt=158932
     CDS             1..1455
                     /gene="SETD5"
                     /gene_synonym="MRD23; SETD5A"
                     /coded_by="XM_054347139.1:3242..7609"
                     /db_xref="GeneID:55209"
                     /db_xref="HGNC:HGNC:25566"
                     /db_xref="MIM:615743"
ORIGIN      
        1 msiaiplgvt tsdtsysdma agsdpesvea spavneksvy sthnygttqr hgcrglpyat
       61 iiprsdlngl pspveercgd spnsegetvp twcpcglsqd gfllncdkcr gmsrgkvirl
      121 hrrkqdnisg gdssateswd eelspstvly tatqhtptsi tltvrrtkpk krkkspekgr
      181 aapktkkika fregsrkslr mknspseaqn ldenttegwe nrirlwtdqy eeaftnqysa
      241 dvqnaleqhl hsskefvgkp tildtinkte lacnntvigs qmqlqlgrvt rvqkhrkilr
      301 aardlaldtl iieyrgkvml rqqfevnghf fkkpypfvlf yskfngvemc vdartfgnda
      361 rfirrsctpn aevrhmiadg mihlciyavs aitkdaevti afdyeysncn ykvdcachkg
      421 nrncpiqkrn pnatelpllp pppslptiga etrrrkarrk elemeqqnea seenndqqsq
      481 evpekvtvss dheevdnpee kpeeekeevi ddqenlahsr rtredrkvea imhafenlek
      541 rkkrrdqple qsnsdveitt ttsetpvgee tkteapesev snsvsnvtip stpqsvgvnt
      601 rrssqagdia aeklvpkppp akpsrprpks risryrtssa qrlkrqkqan aqqaelsqaa
      661 leeggsnslv tpteagslds sgenrpltgs dptvvsitgs hvnraaskyp ktkkylvtew
      721 lndkaekqec pvecplritt dptvlattln mlpglihspl icttpkhyir fgspfiperr
      781 rrpllpdgtf ssckkrwikq aleegmtqts svpqetrtqh lyqsnensss ssickdnadl
      841 lsplkkwksr ylmeqnvtkl lrplspvtpp ppnsgskspq latpgsshpg eeecrngysl
      901 mfspvtsltt asrcntplqf elchrkdldl akvgyldsnt nscadrpsll nsghsdlaph
      961 pslgptsetg fpsrsgdghq tlvrnsdqaf rtefnlmyay splnamprad glyrgsplvg
     1021 drkplhldgg ycspaegfss ryehglmkdl srgslspgge racegvpsap qnppqrkkvs
     1081 lleyrkrkqe akensagggg dsaqsksksa gagqgssnsv sdtgahgvqg ssartpssph
     1141 kkfspshssm shleavspsd srgtssshcr pqenissrwm vptsverlre ggsipkvlrs
     1201 svrvaqkgep sptwesnite kdsdpadgeg petlssalsk gatvyspsry syqllqcdsp
     1261 rtesqsllqq ssspfrghpt qspgysyrtt alrpgnppsh gssesslsst sysspahpvs
     1321 tdslapftgt pgyfssqphs gnstgsnlpr rscpssaasp tlqgpsdspt sdsvsqsstg
     1381 tlsstsfpqn srsslpsdlr tislpsagqs avyqasrvsa vsnsqhyphr gsggvhqyrl
     1441 qplqgsgvkt qtgls
//
LOCUS       XP_054203700             615 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor subfamily 2 group C member 2 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054203700
VERSION     XP_054203700.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347725.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..615
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..615
                     /product="nuclear receptor subfamily 2 group C member 2
                     isoform X5"
                     /calculated_mol_wt=67214
     CDS             1..615
                     /gene="NR2C2"
                     /gene_synonym="TAK1; TR4"
                     /coded_by="XM_054347725.1:407..2254"
                     /db_xref="GeneID:7182"
                     /db_xref="HGNC:HGNC:7972"
                     /db_xref="MIM:601426"
ORIGIN      
        1 mtspspriqi istdsavasp qriqgsepas gplsvftsln kekivtdqqt gqkiqivtav
       61 dasgspkqqf iltspdgagt gkvilaspet ssakqliftt sdnlvpgriq ivtdsasver
      121 llgktdvqrp qvveycvvcg dkasgrhyga vscegckgff krsvrknlty scrsnqdcii
      181 nkhhrnrcqf crlkkclemg mkmesvqser kpfdvqrekp sncaasteki yirkdlrspl
      241 iatptfvadk dgarqtglld pgmlvniqqp liredgtvll atdskaetsq galgtlanvv
      301 tslanlsesl nngdtseiqp edqsaseitr afdtlakaln ttdsssspsl adgidtsggg
      361 sihvisrdqs tpiievegpl lsdthvtfkl tmpspmpeyl nvhyicesas rllflsmhwa
      421 rsipafqalg qdcntslvra cwnelftlgl aqcaqvmsls tilaaivnhl qnsiqedkls
      481 gdrikqvmeh iwklqefcns makldidgye yaylkaivlf spdhpgltst sqiekfqeka
      541 qmelqdyvqk tysedtyrla rilvrlpalr lmssniteel fftglignvs idsiipyilk
      601 metaeyngqi tgasl
//
LOCUS       XP_054205130             581 aa            linear   PRI 20-MAR-2023
DEFINITION  ETS-related transcription factor Elf-2 isoform X2 [Homo sapiens].
ACCESSION   XP_054205130
VERSION     XP_054205130.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349155.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..581
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..581
                     /product="ETS-related transcription factor Elf-2 isoform
                     X2"
                     /calculated_mol_wt=62580
     CDS             1..581
                     /gene="ELF2"
                     /gene_synonym="b; EU32; NERF; NERF-1a; NERF-1A; NERF-1B;
                     NERF-2"
                     /coded_by="XM_054349155.1:7035..8780"
                     /db_xref="GeneID:1998"
                     /db_xref="HGNC:HGNC:3317"
                     /db_xref="MIM:619798"
ORIGIN      
        1 mtsavvdsgg tilelssngv enqeesekvs eypavivepv psarleqgya aqvlvyddet
       61 ymmqdvaeeq evetenvetv easvhssnah ctdktieaae allhmesptc lrdsrspefi
      121 haamrpdvit etvvevstee sepmdtspip tspdshepmk kkkvgrkpkt qqspisngsp
      181 elgikkkpre gkgnttylwe flldllqdkn tcpryikwtq rekgifklvd skavsklwgk
      241 hknkpdmnye tmgralryyy qrgilakveg qrlvyqfkdm pknivviddd ksetcnedla
      301 gttdeksler vslsaesllk aassvrsgkn sspincsrae kgvarvvnit spghdassrs
      361 ptttasvsat aaprtvrvam qvpvvmtslg qkistvavqs vnagaplits tspttatspk
      421 vviqtiptvm pastengdki tmqpakiiti patqlaqcql qtksnltgsg sinivgtpla
      481 vraltpvsia hgtpvmrlsm ptqqasgqtp prvisavikg pevkseavak kqehdvktlq
      541 lveekpadgn ktvthvvvvs apsaialpvt mkteglvtce k
//
LOCUS       XP_054205215             534 aa            linear   PRI 20-MAR-2023
DEFINITION  evC complex member EVC isoform X7 [Homo sapiens].
ACCESSION   XP_054205215
VERSION     XP_054205215.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349240.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..534
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..534
                     /product="evC complex member EVC isoform X7"
                     /calculated_mol_wt=59711
     CDS             1..534
                     /gene="EVC"
                     /gene_synonym="DWF-1; EVC1; EVCL"
                     /coded_by="XM_054349240.1:181..1785"
                     /db_xref="GeneID:2121"
                     /db_xref="HGNC:HGNC:3497"
                     /db_xref="MIM:604831"
ORIGIN      
        1 marggaacks darlllgrda lrpapallap avllgaalgl glglwlgcra grqrtrhqkd
       61 dtqnllknle snaptpsetg spsrrrkrev qmskdkeavd eceppsnsni tafalkakvi
      121 ypinqkfrpl adgssnpslh enlkqavlph qpveaspsss lgslsqgekd dcsssssvhs
      181 atsddrflsr tflrvnafpe vlacesvdvd lciyslhlkd llhldtalrq ekhmmfiqif
      241 kmclldllpk kksddelhqk ilskqekdle elekglqvkl sntemsgagd seyitladve
      301 kkereyseql idnmeafwkq maniqhflvd qfkcssskar qlmmtlterm iaaegllcds
      361 qelqaldale rtmgrahmak vieflklqvq eetrcrlaai shglellage gklsgrqkee
      421 lltqqhkafw qeaerfsref vqrgkdlvka slahqvegta kltlaqeeeq rsflaeaqpt
      481 adpekfleaf hevlerqrlm qcdleeeenv rateavvalc qamrrhrdtg keav
//
LOCUS       XP_054205321            1227 aa            linear   PRI 20-MAR-2023
DEFINITION  palladin isoform X8 [Homo sapiens].
ACCESSION   XP_054205321
VERSION     XP_054205321.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349346.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1227
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1227
                     /product="palladin isoform X8"
                     /calculated_mol_wt=135104
     CDS             1..1227
                     /gene="PALLD"
                     /gene_synonym="CGI-151; CGI151; MYN; PNCA1; SIH002"
                     /coded_by="XM_054349346.1:361..4044"
                     /db_xref="GeneID:23022"
                     /db_xref="HGNC:HGNC:17068"
                     /db_xref="MIM:608092"
ORIGIN      
        1 mcappgllhk pshgppycqs clplslplsr iqtaisylsk itqfqktvss asglptesrh
       61 rvhedrsnms gtsshesfyd slsdmqeesk ntdffpglsa flsqeeinks ldlarraiad
      121 setedfdsek eisqifstsp aslcehpshk etklgehasr rpqdnrstpv qplaekqtks
      181 isspvskrkp amsplltrps yirslrkaek rgaktpstnv kpktphqrkg gpqsqlcdka
      241 anlieeltsi fkaakprnrs pngessspds gylspknqps allsasasqs ptedqgemer
      301 evkspgarhc yqdnqdlavp hnrkshpqph salhfpaapr fiqklrsqev aegsrvylec
      361 rvtgnptprv rwfcegkelh ntpdiqihce ggdlhtliia eafeddtgry tclatnpsgs
      421 dttsaevfie gasstdsdse slafksraga mpqaqkktts vsltigsssp ktgvttaviq
      481 plsvpvqqvh sptsylcrpd gtttayfppv ftkelqntav aegqvvvlec rvrgapplqv
      541 qwfrqgseiq dspdfrilqk kprstaepee ictlviaetf pedagiftcs arndygsats
      601 taqlvvtsan tencsyesmg esnndhfqhf pppppilets slelaskkps eiqqvnnpel
      661 glsraalqmq fnaaeretng vhpsrgvngl ingkansnks lptpavllsp tkepppllak
      721 pklgfpkkas rtariasdee iqgtkdaviq dlerklrfke dllnngqprl tyeermarrl
      781 lgadsatvfn iqepeeetan qeykvssceq rliseieyrl erspvdesgd evqygdvpve
      841 ngmapffemk lkhykifegm pvtftcrvag npkpkiywfk dgkqispksd hytiqrdldg
      901 tcslhttast ldddgnytim aanpqgrisc tgrlmvqavn qrgrsprsps ghphvrrprs
      961 rsrdsgdene piqerffrph flqapgdltv qegklcrmdc kvsglptpdl swqldgkpvr
     1021 pdsahkmlvr engvhsliie pvtsrdagiy tciatnragq nsfslelvva akeahkppvf
     1081 ieklqntgva dgypvrlecr vlgvpppqif wkkeneslth stdrvsmhqd nhgyiclliq
     1141 gatkedagwy tvsakneagi vsctarldvy tqwhqqsqst kpkkvrpsas ryaalsdqgl
     1201 dikaafqpea npshltlnta lvesedl
//
LOCUS       XP_054205336             294 aa            linear   PRI 20-MAR-2023
DEFINITION  DCN1-like protein 4 isoform X3 [Homo sapiens].
ACCESSION   XP_054205336
VERSION     XP_054205336.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349361.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..294
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..294
                     /product="DCN1-like protein 4 isoform X3"
                     /calculated_mol_wt=34254
     CDS             1..294
                     /gene="DCUN1D4"
                     /gene_synonym="DCNL4"
                     /coded_by="XM_054349361.1:369..1253"
                     /db_xref="GeneID:23142"
                     /db_xref="HGNC:HGNC:28998"
                     /db_xref="MIM:612977"
ORIGIN      
        1 makagarerk dfqlnshlst lanihkiyht lnklnltedi gqddhqtgsl rscsssdcfn
       61 kvmpprkkrr pasgddlsak ksrhdsmyrk ydstriktee eafsskrcle wfyeyagtdd
      121 vvgpegmekf cedigvepen vvmlvlawkl daqnmgyftl qewlkgmtsl qcdtteklrn
      181 tldylrsfln dstnfkliyr yafdfarekd qrsldintak cmlglllgki wplfpvfhqf
      241 leqskykvin kdqwcnvlef srtinldlsn ydedgawpvl ldefvewykd kqms
//
LOCUS       XP_054205775             565 aa            linear   PRI 20-MAR-2023
DEFINITION  G protein-coupled receptor kinase 4 isoform X8 [Homo sapiens].
ACCESSION   XP_054205775
VERSION     XP_054205775.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349800.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..565
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..565
                     /product="G protein-coupled receptor kinase 4 isoform X8"
                     /calculated_mol_wt=64922
     CDS             1..565
                     /gene="GRK4"
                     /gene_synonym="GPRK2L; GPRK4; GRK4a; IT11"
                     /coded_by="XM_054349800.1:501..2198"
                     /db_xref="GeneID:2868"
                     /db_xref="HGNC:HGNC:4543"
                     /db_xref="MIM:137026"
ORIGIN      
        1 melenivans lllkarqggy gkksgrskkw keiltlppvs qcselrhsie kdysslcdkq
       61 pigrrlfrqf cdtkptlkrh iefldavaey evaddedrsd cglsildrff ndklaaplpe
      121 ippdvvtecr lglkeenpsk kafeectrva hnylrgepfe eyqessyfsq flqwkwlerq
      181 pvtkntfrhy rvlgkggfge qspvgcavdg swkkqqpnvd dteargpepe ahdtifstfv
      241 cacqvratgk myackklqkk rikkrkgeam alnekrilek vqsrfvvsla yayetkdalc
      301 lvltimnggd lkfhiynlgn pgfdeqravf yaaelccgle dlqrerivyr dlkpenilld
      361 drghirisdl glateipegq rvrgrvgtvg ymapevvnne kytfspdwwg lgcliyemiq
      421 ghspfkkyke kvkweevdqr ikndteeyse kfsedaksic rmphavyckd vldieqfsav
      481 kgiyldtade dfyarfatgc vsipwqnemi esgcfkdink seseealpld ldknihtpvs
      541 rpnrgffyrl frrgavlysl ratwc
//
LOCUS       XP_054207798             413 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 23-like isoform X1 [Homo sapiens].
ACCESSION   XP_054207798
VERSION     XP_054207798.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351823.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 9% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..413
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..413
                     /product="tetratricopeptide repeat protein 23-like isoform
                     X1"
                     /calculated_mol_wt=46739
     CDS             1..413
                     /gene="TTC23L"
                     /gene_synonym="MC25-1"
                     /coded_by="XM_054351823.1:41..1282"
                     /db_xref="GeneID:153657"
                     /db_xref="HGNC:HGNC:26355"
                     /db_xref="MIM:616344"
ORIGIN      
        1 mqaspiript vsndidwdfc frmsqqteip ahqqtdelyp tggcgeseee tkakekekai
       61 dcmshpkekl aqsqkkvaql ikekmntqan kelircvils riifgdhhwk caralanlay
      121 gyltlrglpv qakkhatsak ntlltwkant tsnkekeeil ealvklyytl gvawllqnrg
      181 reayfnlqka ernmkelkel ykggvcelqv sendltlalg raslaihrln lalayfekai
      241 gdviaakgdr tsdlislyee aaqieqlrrn hnqaiqylqq ahsvcvslft evspktaems
      301 allakayams geaqhrdave iyfirsinay ratlgsedfe tlstteefck wlvqngekqc
      361 lmiqifvygg ehsrsretks lltlwqrtss sssrwrreai pgrrnstykg tea
//
LOCUS       XP_054208583             473 aa            linear   PRI 20-MAR-2023
DEFINITION  myocyte-specific enhancer factor 2C isoform X1 [Homo sapiens].
ACCESSION   XP_054208583
VERSION     XP_054208583.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352608.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..473
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..473
                     /product="myocyte-specific enhancer factor 2C isoform X1"
                     /calculated_mol_wt=51090
     CDS             1..473
                     /gene="MEF2C"
                     /gene_synonym="C5DELq14.3; DEL5q14.3; NEDHSIL"
                     /coded_by="XM_054352608.1:300..1721"
                     /db_xref="GeneID:4208"
                     /db_xref="HGNC:HGNC:6996"
                     /db_xref="MIM:600662"
ORIGIN      
        1 mgrkkiqitr imdernrqvt ftkrkfglmk kayelsvlcd ceialiifns tnklfqyast
       61 dmdkvllkyt eynephesrt nsdivetlrk kglngcdspd pdaddsvghs pesedkyrki
      121 nedidlmisr qrlcavpppn fempvsipvs shnslvysnp vsslgnpnll plahpslqrn
      181 smspgvthrp psagntgglm ggdltsgagt sagngygnpr nspgllvspg nlnknmqaks
      241 pppmnlgmnn rkpdlrvlip pgskntmpsv sedvdlllnq rinnsqsaqs latpvvsvat
      301 ptlpgqgmgg ypsaisttyg teyslssadl sslsgfntas alhlgsvtgw qqqhlhnmpp
      361 salsqlgact sthlsqssnl slpstqslni ksepvspprd rtttpsrypq htrheagrsp
      421 vdslsscsss ydgsdredhr nefhspiglt rpspderesp svkrmrlseg wat
//
LOCUS       XP_054208730             453 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-1,3-galactosyl-O-glycosyl-glycoprotein
            beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054208730
VERSION     XP_054208730.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352755.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..453
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..453
                     /product="beta-1,3-galactosyl-O-glycosyl-glycoprotein
                     beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1"
                     /calculated_mol_wt=52921
     CDS             1..453
                     /gene="GCNT4"
                     /gene_synonym="C2GNT3; LINC01336"
                     /coded_by="XM_054352755.1:1199..2560"
                     /db_xref="GeneID:51301"
                     /db_xref="HGNC:HGNC:17973"
                     /db_xref="MIM:616782"
ORIGIN      
        1 mkifkcyfkh tlqqkvfilf ltlwllsllk llnvrrlfpq kdiylveysl stspfvrnry
       61 thvkdevrye vncsgiyeqe pleigkslei rrrdiidled ddvvamtsdc diyqtlrgya
      121 qklvskeeks fpiayslvvh kdaimverli haiynqhniy cihydrkapd tfkvamnnla
      181 kcfsnifias kleaveyahi srlqadlncl sdllkssiqw kyvinlcgqd fplksnfelv
      241 selkklngan mletvkppns klerftyhhe lrrvpyeyvk lpirtniske apphniqifv
      301 gsayfvlsqa fvkyifnnsi vqdffawskd tyspdehfwa tlirvpgipg eisrsaqdvs
      361 dlqsktrlvk wnyyegffyp sctgshlrsv ciygaaelrw likdghwfan kfdskvdpil
      421 ikclaeklee qqrdwitlps eklfmdrnlt tts
//
LOCUS       XP_047300508             194 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124906507 [Homo sapiens].
ACCESSION   XP_047300508
VERSION     XP_047300508.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047444552.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..194
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..194
                     /product="uncharacterized protein LOC124906507"
                     /calculated_mol_wt=20016
     CDS             1..194
                     /gene="LOC124906507"
                     /coded_by="XM_047444552.1:2650..3234"
                     /db_xref="GeneID:124906507"
ORIGIN      
        1 mpasllagvk gagisevswa espeweevag rgseeenrgp gglcffpdtg aveetsaada
       61 rgasrprqsw dlglsccasi vgaletggpp eipvasedkv wegreglqsg malsstcsal
      121 lmrwnavsfs rcrssavtry psskgggsik gsprlrgsrg ilrlrglesw dlgeppvgai
      181 vcpgavsapf shrv
//
LOCUS       XP_054210870            8818 aa            linear   PRI 20-MAR-2023
DEFINITION  nesprin-1 isoform X13 [Homo sapiens].
ACCESSION   XP_054210870
VERSION     XP_054210870.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354895.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8818
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..8818
                     /product="nesprin-1 isoform X13"
                     /calculated_mol_wt=1013183
     CDS             1..8818
                     /gene="SYNE1"
                     /gene_synonym="8B; AMC3; AMCM; ARCA1; C6orf98; CPG2;
                     dJ45H2.2; EDMD4; KASH1; MYNE1; Nesp1; SCAR8"
                     /coded_by="XM_054354895.1:535..26991"
                     /db_xref="GeneID:23345"
                     /db_xref="HGNC:HGNC:17089"
                     /db_xref="MIM:608441"
ORIGIN      
        1 matsrgasrc prdianvmqr lqdeqeivqk rtftkwinsh lakrkppmvv ddlfedmkdg
       61 vkllallevl sgqklpceqg rrmkrihava nigtalkfle grksmhrgsp iklvninstd
      121 iadgrpsivl glmwtiilyf qieeltsnlp qlqslsssas svdsivsset psppskrkvt
      181 tkiqgnakka llkwvqytag kqtgievkdf gkswrsgvaf hsvihairpe lvdletvkgr
      241 snrenledaf tiaetelgip rlldpedvdv dkpdeksimt yvaqflkhyp dihnastdgq
      301 eddeilpgfp sfansvqnfk redrvifkem kvwieqferd ltraqmvesn lqdkyqsfkh
      361 frvqyemkrk qiehliqplh rdgklsldqa lvkqswdrvt srlfdwhiql dkslpaplgt
      421 igawlyraev alreeitvqq vheetantiq rkleqhkdll qntdahkraf heiyrtrsvn
      481 gipvppdqle dmaerfhfvs stselhlmkm eflelkyrll sllvlaeskl kswiikygrr
      541 esveqllqny vsfienskff eqyevtyqil kqtaemyvka dgsveeaenv mkfmnettaq
      601 wrnlsvevrs vrsmleevis nwdrygntva slqawledae kmlnqsenak kdffrnlphw
      661 iqqhtamnda gnflietcde mvsrdlkqql lllngrwrel fmevkqyaqa demdrmkkey
      721 tdcvvtlsaf ateahkklse plevsfmnvk lliqdledie qrvpvmdaqy kiitktahli
      781 tkespqeegk emfatmsklk eqltkvkecy spllyesqql lipleelekq mtsfydslgk
      841 ineiitvlec eaqssalfkq khqellacqe nckktltlie kgsqsvqkfv tlsnvlkhfd
      901 qtrlqrqiad ihvafqsmvk ktgdwkkhve tnsrlmkkfe esraelekvl riaqegleek
      961 gdpeellrrh teffsqldqr vlnaflkacd eltdilpeqe qqglqeavrk lhkqwkdlqg
     1021 eapyhllhlk idveknrfla saeecrteld retklmpqeg sekiikehrv ffsdkgphhl
     1081 cekrlqliee lcvklpvrdp vrdtpgtchv tlkelraaid styrklmedp dkwkdytsrf
     1141 sefsswistn etqlkgikge aidtanhgev kraveeirng vtkrgetlsw lksrlkvlte
     1201 vsseneaqkq gdelaklsss fkalvtllse vekmlsnfgd cvqykeivkn sleelisgsk
     1261 evqeqaekil dtenlfeaqq lllhhqqktk risakkrdvq qqiaqaqqge gglpdrghee
     1321 lrklestldg lersrerqer riqvtlrkwe rfetnketvv rylfqtgssh erflsfssle
     1381 slsseleqtk efskrtesia vqaenlvkea seiplgpqnk qllqqqaksi keqvkkledt
     1441 leediktmem vktkwdhfgs nfetlsvwit ekekelnale tsssamdmqi sqikvtiqei
     1501 esklssivgl eeeaqsfaqf vttgesarik akltqirryg eelrehaqcl egtilghlsq
     1561 qqkfeenlrk iqqsvsefed klavpikics satetykvlq ehmdlcqale slssaitafs
     1621 asarkvvnrd scvqeaaalq qqyedilrra kerqtalenl lahwqrleke lssfltwler
     1681 geakasspem disadrvkve gelqliqalq nevvsqasfy skllqlkesl fsvaskddvk
     1741 mmklhleqld erwrdlpqii nkrinflqsv vaehqqfdel llsfsvwikl flselqttse
     1801 isimdhqval trhkdhaaev eskkgelqsl qghlaklgsl graedlhllq gkaedcfqlf
     1861 eeasqvverr qlalshlaef lqshaslsgi lrqlrqtvea tnsmnknesd liekdlndal
     1921 qnakalesaa vsldgilska qyhlkigsse qrtscratad qlcgeveriq nllgtkqsea
     1981 dalavlkkaf qdqkeellks iedieertdk erlkeptrqa lqqrlrvfnq ledelnsheh
     2041 elcwlkdkak qiaqkdvafa pevdreinrl evtwddtkrl ihenqgqccg lidlmreyqn
     2101 lksavskvle nassvivtrt tikdqedlkw afskhetakn kmnykqkdld nftskgkhll
     2161 selkkihssd fslvktdmes tvdkwldvse kleenmdrlr vslsiwddvl strdeiegws
     2221 nncvpqmaen isnldnhlra eellkefese vknkalrlee lhskvndlke ltknletppd
     2281 lqfieadlmq klehakeite vakgtlkdft aqstqvekfi ndittwftkv eeslmncaqn
     2341 etcealkkvk diqkelqsqq snisstqenl nslcrkyhsa eleslgramt glikkheavs
     2401 qlcsktqasl qeslekhfse smqefqewfl gakaaakess drtgdskvle aklhdlqnil
     2461 dsvsdgqskl davtqegqtl yahlskqivs siqeqitkan eefqaflkqc lkdkqalqdc
     2521 aselgsfedq hrklnlwihe meerfntenl geskqhipek knevhkvemf lgellaares
     2581 ldklsqrgql lseeghgagq egrlcsqllt shqnllrmtk eklrscqval qehealeeal
     2641 qsmwfwvkai qdrlacaest lgskdtlekr lsqiqdillm kgegevklnm aigkgeqalr
     2701 ssnkegqrvi qtqletlkev wadimsssvh aqstlesvis qwndyverkn qleqwmesvd
     2761 qkiehplqpq pglkekfvll dhlqsilsea edhtralhrl ivksrelyek tedesfkdta
     2821 qeelktqfnd imtvakekmr kveeivkdhl myldavheft dwlhsakeel hrwsdmsgds
     2881 satqkklski kelidsreig asrlsrvesl apevkqntta sgcelmhtem qalradwkqw
     2941 edsvfqtqsc lenlvsqmal seqefsgqva qleqaleqfs allktwaqql tllegkntde
     3001 eivecwhkgq eildalqkae prtedlksql nelcrfsrdl stysgkvsgl ikeynclclq
     3061 askgcqnkeq ilqqrfrkaf rdfqqwlvna kittakcfdi pqnisevsts lqkiqeflse
     3121 sengqhklnm mlskgellst lltkekakgi qakvtaaked wknfhsnlhq kesalenlki
     3181 qmkdfevsae piqdwlskte kmvhessnrl ydlpakrreq qklqsvleei hcyepqlnrl
     3241 kekaqqlweg qaasksfrhr vsqlssqyla lsnltkekvs rldrivaehn qfslgikelq
     3301 dwmtdaihml dsychptsdk svldsrtlkl eallsvkqek eiqmkmivtr gesvlqntsp
     3361 egiptiqqql qsvkdmwasl lsagircksq legalskwts yqdgvrqfsg wmdsmeanln
     3421 eserqhaelr dkttmlgkak llneevlsys slletievkg agmtehyvtq lelqdlqery
     3481 raiqerakea vtkseklvrl hqeyqrdlka fevwlgqeqe kldqysvleg dahthettlr
     3541 dlqelqvhca egqallnsvl htredvipsg ipqaedrale slrqdwqayq hrlsetrtqf
     3601 nnvvnklrlm eqkfqqvdew lktaeekvsp rtrrqsnrat keiqlhqmkk wheevtayrd
     3661 eveevgaraq eildeshvns rmgcqatqlt sryqalllqv leqikfleee iqsleesess
     3721 lssysdwygs thknfknvat kidkvdtvmm gkklktlevl lkdmekghsl lksarekger
     3781 avkyleegea erlrkeihdh meqlkeltst vrkehmtlek glhlakefsd kckaltqwia
     3841 eyqeilhvpe epkmelyekk aqlskykslq qtvlshepsv ksvrekgeal lelvqdvtlk
     3901 dkidqlqsdy qdlcsigkeh vfsleakvkd hedynselqe vekwllqmsg rlvapdllet
     3961 ssletitqql ahhkammeei agfedrlnnl qmkgdtligq cadhlqaklk qnvhahlqgt
     4021 kdsysaicst aqrmyqsleh elqkhvsrqd tlqqcqawls avqpdlepsp qpplsraeai
     4081 kqvkhfralq eqartyldll csmcdlsnas vkttakdiqq teqtieqklv qaqnltqgwe
     4141 eikhlkselw iylqdadqql qnmkrrhsel elniaqnmvs qvkdfvkklq skqasvntii
     4201 ekvnkltkke espehkeinh lndqwldlcr qsnnlclqre edlqrtrdyh dcmnvvevfl
     4261 ekfttewdnl arsdaestav hlealkklal alqerkyaie dlkdqkqkmi ehlnlddkel
     4321 vkeqtshleq rwfqledlik rkiqvsvtnl eelnvvqsrf qelmewaeeq qpniaealkq
     4381 spppdmaqnl lmdhlaicse leakqmllks likdadrvma dlglnerqvi qkalsdaqsh
     4441 vnclsdlvgq rrkylnkals ektqflmavf qatsqiqqhe rkimfrehic llpddvskqv
     4501 ktcksaqasl ktyqnevtgl waqgrelmke vteqeksevl gklqelqsvy dsvlqkcshr
     4561 lqeleknlvs rkhfkedfdk achwlkqadi vtfpeinlmn esselhtqla kyqnileqsp
     4621 eyenllltlq rtgqtilpsl nevdhsylse klnalprqfn vivalakdkf ykvqeailar
     4681 keyaslielt tqslseleaq flrmskvptd laveealslq dgcraildev aglgeavdel
     4741 nqkkegfrst gqpwqpdkml hlvtlyhrlk rqteqrvsll edttsayqeh ekmcqqlerq
     4801 lksvkeeqsk vneetlpaee klkmyhslag slqdsgivlk rvtihledla phldplayek
     4861 arhqiqswqg elklltsaig etvtecesrm vqsidfqtem srsldwlrrv kaelsgpvyl
     4921 dlnlqdiqee irkiqihqee vqsslrimna lshkekekft kakelisadl ehslaelsel
     4981 dgdiqealrt rqatlteiys qcqryyqvfq aandwledaq ellqlagngl dvesaeenlk
     5041 shmeffsted qfhsnleelh slvatldpli kptgkedleq kvaslelrsq rmsrdsgaqv
     5101 dllqrctaqw hdyqkareev ielmndtekk lsefsllkts ssheaeekls ehkalvsvvn
     5161 sfhekivale ekasqlektg ndaskatlsr smttvwqrwt rlravaqdqe kiledavdew
     5221 tgfnnkvkka temidqlqdk lpgssaekas kaelltlley hdtfvleleq qqsalgmlrq
     5281 qtlsmlqdga aptpgeeppl mqeitamqdr clnmqekvkt ngklvkqelk dremvetqin
     5341 svkcwvqetk eylgnptiei daqleelqil lteatnhrqn iekmaeeqke kylglytilp
     5401 selslqlaev aldlkirdqi qdkikeveqs katsqelsrq iqklakdltt iltklkaktd
     5461 nvvqaktdqk vlgeeldgcn sklmeldaav qkfleqngql gkplakkigk ltelhqqtir
     5521 qaenrlskln qaashleeyn emlelilkwi ekakvlahgt iawnsasqlr eqyilhqtll
     5581 eeskeidsel eamteklqyl tsvyctekms qqvaelgret eelrqmikir lqnlqdaakd
     5641 mkkfeaelkk lqaaleqaqa tltspevgrl slkeqlshrq hllsemeslk pkvqavqlcq
     5701 salripedvv aslplchaal rlqeeasrlq htaiqqcnim qeavvqyeqy eqemkhlqql
     5761 iegahreied kpvatsniqe lqaqisrhee laqkikgyqe qiaslnskck mltmkakhat
     5821 mlltvteveg laegtedldg ellptpsahp svvmmtagrc htllspvtee sgeegtnsei
     5881 ssppacrsps pvantdasvn qdiayyqals aerlqtdaak ihpstsasqe fyepglepsa
     5941 taklgdlqrs wetlknvise kqrtlyeale rqqkyqdslq sistkmeaie lklsespepg
     6001 rspesqmaeh qalmdeilml qdeinelqss laeelvsesc eadpaeqlal qstltvlaer
     6061 mstirmkasg krqlleekln dqleeqrqeq alqryrcead eldswllstk atldtalspp
     6121 kepmdmeaql mdcqnmlvei eqkvvalsel svhnenllle gkahtkdeae qlagklrrlk
     6181 gsllelqral hdkqlnmqgt aqekeesdvd ltatqspgvq ewlaqarttw tqqrqsslqq
     6241 qkeleqelae qksllrsvas rgeeiliqhs aaetsgdage kpdvlsqelg megekssaed
     6301 qmrmkweslh qefstkqkll qnvleqeqeq vlysrpnrll sgvplykgdv ptqdksavts
     6361 lldglnqafe evssqsggak rqsihleqkl ydgvsatstw lddveerlfv atallpeete
     6421 tclfnqeila kdikemseem dknknlfsqa fpengdnrdv iedtlgcllg rlslldsvvn
     6481 qrchqmkerl qqilnfqndl kvlftsladn kyiilqklan vfeqpvaeqi eaiqqaedgl
     6541 kefdagiiel krrgdklqve qpsmqelskl qdmydelmmi igsrrsglnq nltlksqyer
     6601 alqdladlle tgqekmagdq kiivsskeei qqlldkhkey fqgleshmil tetlfrkiis
     6661 favqketqfh telmaqasav lkrahkrgve leyiletwsh ldedqqelsr qlevvessip
     6721 svglveened rlidritlyq hlksslneyq pklyqvlddg krllisiscs dlesqlnqlg
     6781 ecwlsntnkm skelhrleti lkhwtryqse sadlihwlqs akdrlefwtq qsvtvpqele
     6841 mvrdhlnafl efskevdaqs slkssvlstg nqllrlkkvd tatlrselsr idsqwtdllt
     6901 nipavqeklh qlqmdklpsr haisevmswi slmenviqkd edniknsigy kaiheylqky
     6961 kgfkidinck qltvdfvnqs vlqissqdve skrsdktdfa eqlgamnksw qilqglvtek
     7021 iqlleglles wseyennvqc lktwfetqek rlkqqhrigd qasvqnalkd cqdledlika
     7081 kekevekieq nglaliqnkk edvssivmst lrelgqtwan ldhmvgqlki llksvldqws
     7141 shkvafdkin sylmearysl srfrlltgsl eavqvqvdnl qnlqddlekq erslqkfgsi
     7201 tnqllkechp pvtetltntl kevnmrwnnl leeiaeqlqs skallqlwqr ykdyskqcas
     7261 tvqqqedrtn ellkaatnkd iaddevatwi qdcndllkgl gtvkdslfvl helgeqlkqq
     7321 vdasaasaiq sdqlslsqhl caleqalckq qtslqagvld yetfakslea leawiveaee
     7381 ilqgqdpshs sdlstiqerm eelkgqmlkf ssmapdldrl nelgyrlpln dkeikrmqnl
     7441 nrhwslissq tterfsklqs fllqhqtfle kcetwmeflv qteqklavei sgnyqhlleq
     7501 qrahelfqae mfsrqqilhs iiidgqrlle qgqvddrdef nlkltllsnq wqgvirraqq
     7561 rrgiidsqir qwqryremae klrkwlvevs ylpmsglgsv piplqqartl fdevqfkekv
     7621 flrqqgsyil tveagkqlll sadsgaeaal qaelaeiqek wksasmrlee qkkklafllk
     7681 dwekcekgia dsleklrtfk kklsqslpdh heelhaeqmr ckelenavgs wtddltqlsl
     7741 lkdtlsayis addisilner vellqrqwee lchqlslrrq qigerlnewa vfseknkelc
     7801 ewltqmeskv sqngdiliee mieklkkdyq eeiaiaqenk iqlqqmgerl akasheskas
     7861 eieyklgkvn drwqhlldli aarvkklket lvavqqldkn msslrtwlah ieselakpiv
     7921 ydscnseeiq rklneqqelq rdiekhstgv asvlnlcevl lhdcdacatd aecdsiqqat
     7981 rnldrrwrni camsmerrlk ieetwrlwqk flddysrfed wlkssertaa fpsssgviyt
     8041 vakeelkkfe afqrqvhecl tqlelinkqy rrlarenrtd sacslkqmvh egnqrwdnlq
     8101 krvtsilrrl khfigqreef etardsilvw ltemdlqltn iehfsecdvq akikqlkafq
     8161 qeislnhnki eqiiaqgeql ieksepldaa iieeeldelr rycqevfgrv eryhkklirl
     8221 plpddehdls dreleledsa alsdlhwhdr sadsllspqp ssnlslslaq plrsersgrd
     8281 tpasvdsipl ewdhdydlsr dlesamsral psedeegqdd kdfylrgavg lsgdhsales
     8341 qirqlgkald dsrfqiqqte niirsktptg peldtsykgy mkllgecsss idsvkrlehk
     8401 lkeeeeslpg fvnlhstetq tagvidrwel lqaqalskel rmkqnlqkwq qfnsdlnsiw
     8461 awlgdteeel eqlqrlelst diqtielqik klkelqkavd hrkaiilsin lcspeftqad
     8521 skesrdlqdr lsqmngrwdr vcslleewrg llqdalmqcq iftgqvgrpf lnikgfhems
     8581 hglllmleni drrkneivpi dsnldaeilq dhhkqlmqik hellesqlrv aslqdmscql
     8641 lvnaegtdcl eakekvhvig nrlklllkev srhikelekl ldvsssqqdl sswssadeld
     8701 tsgsvsptsg rstpnrqktp rgkcslsqpg psvssphsrs tkggsdssls epgpgrsgrg
     8761 flfrvlraal plqlllllli glaclvpmse edyscalsnn farsfhpmlr ytngpppl
//
LOCUS       XP_054214236             229 aa            linear   PRI 20-MAR-2023
DEFINITION  speedy protein E2 isoform X3 [Homo sapiens].
ACCESSION   XP_054214236
VERSION     XP_054214236.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358261.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..229
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..229
                     /product="speedy protein E2 isoform X3"
                     /calculated_mol_wt=26739
     CDS             1..229
                     /gene="SPDYE2"
                     /gene_synonym="SPDYB2-L1; SPDYB2L1"
                     /coded_by="XM_054358261.1:508..1197"
                     /db_xref="GeneID:441273"
                     /db_xref="HGNC:HGNC:33841"
                     /db_xref="MIM:617624"
ORIGIN      
        1 mdrtetrfrk rgqitgkitt srqphpqneq spqrstsgyp lqevvddeml gpsapgvdps
       61 ppcrslgwkr krewsdesee epekelapep eetwvvemlc glkmklkqqr vspilpehhk
      121 dfnsqlapgv dpspphrsfc wkrkmewwde seesleeepr kvlapepeei wvaemlcglk
      181 mklkrrrvsl vlpehheafn rlledpvikr flawdkdlrv sdkvrlfsm
//
LOCUS       XP_054216814             432 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphoprotein associated with glycosphingolipid-enriched
            microdomains 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054216814
VERSION     XP_054216814.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360839.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..432
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..432
                     /product="phosphoprotein associated with
                     glycosphingolipid-enriched microdomains 1 isoform X1"
                     /calculated_mol_wt=46850
     CDS             1..432
                     /gene="PAG1"
                     /gene_synonym="CBP; PAG"
                     /coded_by="XM_054360839.1:392..1690"
                     /db_xref="GeneID:55824"
                     /db_xref="HGNC:HGNC:30043"
                     /db_xref="MIM:605767"
ORIGIN      
        1 mgpagsllgs gqmqitlwgs laavaiffvi tfliflcssc drekkprqhs gdhenlmnvp
       61 sdkemfsrsv tslatdapas seqngaltng dilsedstlt cmqhyeevqt sasdlldsqd
      121 stgkpkchqs relprippes avdtmltars vdgdqglgme gpyevlkdss sqenmvedcl
      181 yetvkeikev aaaahlekgh sgkakstsas kelpgpqteg kaefaeyasv drnkkcrqsv
      241 nvesilgnsc dpeeeapppv pvklldenen lqekeggeae esatdttset nkrfsslsyk
      301 sreedptlte eeisamyssv nkpgqlvnks gqsltvpest ytsiqgdpqr spsscndlya
      361 tvkdfektpn stlppagrps eepepdyeai qtlnreeeka tlgtnghhgl vpkendyesi
      421 sdlqqgrdit rl
//
LOCUS       XP_054219098             941 aa            linear   PRI 20-MAR-2023
DEFINITION  band 4.1-like protein 4B isoform X1 [Homo sapiens].
ACCESSION   XP_054219098
VERSION     XP_054219098.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363123.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..941
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..941
                     /product="band 4.1-like protein 4B isoform X1"
                     /calculated_mol_wt=103972
     CDS             1..941
                     /gene="EPB41L4B"
                     /gene_synonym="CG1; EHM2; LULU2"
                     /coded_by="XM_054363123.1:614..3439"
                     /db_xref="GeneID:54566"
                     /db_xref="HGNC:HGNC:19818"
                     /db_xref="MIM:610340"
ORIGIN      
        1 mlrflrrtfg rrsmqryarg aagrgaaglg derdggprgg paaaasssal paapggsvfp
       61 agggplltgg aavhisaaga akatlycrvf lldgtevsvd lpkhakgqdl fdqivyhldl
      121 vetdyfglqf ldsaqvahwl dhakpikkqm kigpayalhf rvkyyssepn nlreeftryl
      181 fvlqlrhdil sgklkcpyet avelaalclq aelgecelpe htpelvsefr fipnqteame
      241 fdifqrwkec rgkspaqael sylnkakwle mygvdmhvvr grdgceyslg ltptgilife
      301 gankiglffw pkitkmdfkk skltlvvved ddqgreqeht fvfrldsart ckhlwkcave
      361 hhaffrlrtp gnsksnrsdf irlgsrfrfs grteyqathg srlrrtstfe rkpskrypsr
      421 rhstfkasnp viaaqlcskt npevhnyqpq yhpnihpsqp rwhphspnvs yplpspvlss
      481 sdrlpfgiee nggtpfltaa sgrhhhqhqh qhqhqhhsny slsltlenke gplrspnsss
      541 ksltklspgt palfseaaah lkkleletvk aagpwpplhi ninkaeekkv sektlqtpll
      601 pspvadhvkc nilkaqlena srvniqggke espfvninkk sslqdasvrs pipirvetaq
      661 pavekpeikp prvrkltrqy sfnrsdeddl ppdlaeavgv ttstttnttt aatqvsvplp
      721 spkvqnvssp hksegkglls pgakspsdrg gaftlepgdl lmdfteatpl hwlkatpqls
      781 rplappaifh plhtglplgm aalvgllqae pasnphcahs rcspplslpm keettgvcmy
      841 ppiktrlikt fpvdtmtpfp dtfttgpqft adfrdsklqc cpgptsplip aatlrpltet
      901 vstvqtiytt rkpvslaasa etlrqelere kmmkrllmte l
//
LOCUS       XP_054219325            1085 aa            linear   PRI 20-MAR-2023
DEFINITION  DENN domain-containing protein 1A isoform X2 [Homo sapiens].
ACCESSION   XP_054219325
VERSION     XP_054219325.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363350.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1085
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1085
                     /product="DENN domain-containing protein 1A isoform X2"
                     /calculated_mol_wt=119357
     CDS             1..1085
                     /gene="DENND1A"
                     /gene_synonym="FAM31A; KIAA1608"
                     /coded_by="XM_054363350.1:1010..4267"
                     /db_xref="GeneID:57706"
                     /db_xref="HGNC:HGNC:29324"
                     /db_xref="MIM:613633"
ORIGIN      
        1 mrcaaaalrh llnetrkvcl wqnpettfev yvevayprtg gtlsdpevqr qfpedysdqe
       61 vlqtltkfcf pfyvdsltvs qvgqnftfvl tdidskqrfg fcrlssgaks cfcilsylpw
      121 fevfykllni ladyttkrqe nqwnelletl hklpipdpgv svhlsvhsyf tvpdtrelps
      181 ipenrnltey fvavdvnnml hlyasmlyer riliicskls tltacihgsa amlypmywqh
      241 vyipvlpphl ldyccapmpy ligihlslme kvrnmalddv vilnvdtntl etpfddlqsl
      301 pndvisslkn rlkkvstttg dgvaraflka qaaffgsyrn alkiepeepi tfceeafvsh
      361 yrsgamrqfl qnatqlqlfk qfidgrldll nsgegfsdvf eeeinmgeya gsdklyhqwl
      421 stvrkgsgai lntvktkanp amktvykfak dhakmgikev knrlkqkdia engcaptpee
      481 qlpktapspl veakdpklre drrpitvhfg qlqrlrptrp ppkiqrsrpv rpprphvvkr
      541 pksniavegr rtsvpspehl vkplrhyavf lsedssddec qreegpssgf tesfffsapf
      601 ewpqpyrtlr esdsaegdea espeqqvrks tgpvpappdr aasidlledv fsnldmeaal
      661 qplgqaksle dlrapkdlre qpgtfdyqrl dlggsersrg vtvalklthp ynklwslgqd
      721 dmaipskppa aspekpsall gnslalprrp qnrdsilnps dkeevptptl gsitiprpqg
      781 rktpelgivp pppiprpakl qaagaalgdv serlqtdrdr raalspgllp gvvpqgptel
      841 lqplspgpga agtssdalla lldplstaws gstlpsrpat pnvatpftpq fsfppagtpt
      901 pfpqpplnpf vpsmpaappt lplvstpagp fgappaslgp afasglllss agfcaphrsq
      961 pnlsalsmpn lfgqmpmgth tsplqplgpp avapsrirtl plarssaraa etkqglalrp
     1021 gdppllpprp pqgleptlqp sapqqardpf edllqktkqd vspspalapa pdsveqlrkq
     1081 wetfe
//
LOCUS       NP_037521               1359 aa            linear   PRI 26-MAR-2023
DEFINITION  NPC1-like intracellular cholesterol transporter 1 isoform 1
            precursor [Homo sapiens].
ACCESSION   NP_037521
VERSION     NP_037521.2
DBSOURCE    REFSEQ: accession NM_013389.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1359)
  AUTHORS   Zhang G, Li X and Huang X.
  TITLE     m6A-related bioinformatics analysis and functional characterization
            reveals that METTL3-mediated NPC1L1 mRNA hypermethylation
            facilitates progression of atherosclerosis via inactivation of the
            MAPK pathway
  JOURNAL   Inflamm Res 72 (3), 429-442 (2023)
   PUBMED   36583755
  REMARK    GeneRIF: m6A-related bioinformatics analysis and functional
            characterization reveals that METTL3-mediated NPC1L1 mRNA
            hypermethylation facilitates progression of atherosclerosis via
            inactivation of the MAPK pathway.
REFERENCE   2  (residues 1 to 1359)
  AUTHORS   Kwon RJ, Park EJ, Lee SY, Lee Y, Hwang C, Kim C and Cho YH.
  TITLE     Expression and prognostic significance of Niemann-Pick C1-Like 1 in
            colorectal cancer: a retrospective cohort study
  JOURNAL   Lipids Health Dis 20 (1), 104 (2021)
   PUBMED   34511128
  REMARK    GeneRIF: Expression and prognostic significance of Niemann-Pick
            C1-Like 1 in colorectal cancer: a retrospective cohort study.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1359)
  AUTHORS   Long T, Liu Y, Qin Y, DeBose-Boyd RA and Li X.
  TITLE     Structures of dimeric human NPC1L1 provide insight into mechanisms
            for cholesterol absorption
  JOURNAL   Sci Adv 7 (34) (2021)
   PUBMED   34407950
  REMARK    GeneRIF: Structures of dimeric human NPC1L1 provide insight into
            mechanisms for cholesterol absorption.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1359)
  AUTHORS   Ferri F, Carotti S, Carpino G, Mischitelli M, Cantafora A, Molinaro
            A, Argenziano ME, Parisse S, Corsi A, Riminucci M, Lai Q, Mennini
            G, Spadetta G, Pugliese F, Rossi M, Morini S, Gaudio E and Ginanni
            Corradini S.
  TITLE     The Propensity of the Human Liver to Form Large Lipid Droplets Is
            Associated with PNPLA3 Polymorphism, Reduced INSIG1 and NPC1L1
            Expression and Increased Fibrogenetic Capacity
  JOURNAL   Int J Mol Sci 22 (11), 6100 (2021)
   PUBMED   34198853
  REMARK    GeneRIF: The Propensity of the Human Liver to Form Large Lipid
            Droplets Is Associated with PNPLA3 Polymorphism, Reduced INSIG1 and
            NPC1L1 Expression and Increased Fibrogenetic Capacity.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1359)
  AUTHORS   Ticho AL, Calzadilla N, Malhotra P, Lee H, Anbazhagan AN, Saksena
            S, Dudeja PK, Lee D, Gill RK and Alrefai WA.
  TITLE     NPC1L1-dependent transport of 27-alkyne cholesterol in intestinal
            epithelial cells
  JOURNAL   Am J Physiol Cell Physiol 320 (5), C916-C925 (2021)
   PUBMED   33760662
  REMARK    GeneRIF: NPC1L1-dependent transport of 27-alkyne cholesterol in
            intestinal epithelial cells.
REFERENCE   6  (residues 1 to 1359)
  AUTHORS   Davies JP, Scott C, Oishi K, Liapis A and Ioannou YA.
  TITLE     Inactivation of NPC1L1 causes multiple lipid transport defects and
            protects against diet-induced hypercholesterolemia
  JOURNAL   J Biol Chem 280 (13), 12710-12720 (2005)
   PUBMED   15671032
  REMARK    GeneRIF: NPC1L1 has a role in lipid transport and in diet-induced
            hypercholesterolemia
REFERENCE   7  (residues 1 to 1359)
  AUTHORS   van der Veen JN, Kruit JK, Havinga R, Baller JF, Chimini G,
            Lestavel S, Staels B, Groot PH, Groen AK and Kuipers F.
  TITLE     Reduced cholesterol absorption upon PPARdelta activation coincides
            with decreased intestinal expression of NPC1L1
  JOURNAL   J Lipid Res 46 (3), 526-534 (2005)
   PUBMED   15604518
REFERENCE   8  (residues 1 to 1359)
  AUTHORS   Wang J, Williams CM and Hegele RA.
  TITLE     Compound heterozygosity for two non-synonymous polymorphisms in
            NPC1L1 in a non-responder to ezetimibe
  JOURNAL   Clin Genet 67 (2), 175-177 (2005)
   PUBMED   15679830
REFERENCE   9  (residues 1 to 1359)
  AUTHORS   Altmann SW, Davis HR Jr, Zhu LJ, Yao X, Hoos LM, Tetzloff G, Iyer
            SP, Maguire M, Golovko A, Zeng M, Wang L, Murgolo N and Graziano
            MP.
  TITLE     Niemann-Pick C1 Like 1 protein is critical for intestinal
            cholesterol absorption
  JOURNAL   Science 303 (5661), 1201-1204 (2004)
   PUBMED   14976318
  REMARK    GeneRIF: expression is enriched in the small intestine and is in
            the brush border membrane of enterocytes
REFERENCE   10 (residues 1 to 1359)
  AUTHORS   Davies JP, Levy B and Ioannou YA.
  TITLE     Evidence for a Niemann-pick C (NPC) gene family: identification and
            characterization of NPC1L1
  JOURNAL   Genomics 65 (2), 137-145 (2000)
   PUBMED   10783261
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004938.3 and AF192522.1.
            On Aug 23, 2007 this sequence version replaced NP_037521.1.
            
            Summary: The protein encoded by this gene is a multi-pass membrane
            protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1)
            domain and a putative sterol-sensing domain (SSD) which includes a
            YQRL motif functioning as a plasma membrane to trans-Golgi network
            transport signal in other proteins. This protein takes up free
            cholesterol into cells through vesicular endocytosis and plays a
            critical role in the absorption of intestinal cholesterol. It also
            has the ability to transport alpha-tocopherol (vitamin E). The drug
            ezetimibe targets this protein and inhibits the absorption of
            intestinal cholesterol and alpha-tocopherol. In addition, this
            protein may play a critical role in regulating lipid metabolism.
            Polymorphic variations in this gene are associated with plasma
            total cholesterol and low-density lipoprotein cholesterol (LDL-C)
            levels and coronary heart disease (CHD) risk. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF192522.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968968,
                                           SAMEA2142586 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1359
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p13"
     Protein         1..1359
                     /product="NPC1-like intracellular cholesterol transporter
                     1 isoform 1 precursor"
                     /note="niemann-Pick C1-like protein 1; NPC1 (Niemann-Pick
                     disease, type C1, gene)-like 1; NPC1 like 1"
                     /calculated_mol_wt=146378
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2369
     mat_peptide     22..1359
                     /product="NPC1-like intracellular cholesterol transporter
                     1. /id=PRO_0000023266"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC9.2)"
                     /calculated_mol_wt=146378
     Region          33..1293
                     /region_name="2A060601"
                     /note="Niemann-Pick C type protein family; TIGR00917"
                     /db_xref="CDD:273337"
     Site            54
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21525977; propagated from
                     UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            132
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            138
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21525977; propagated from
                     UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            244
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            285..305
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            352..372
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            416
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            431
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            464
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            479
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            497
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            506
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            626
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            633..653
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            667..687
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            697..717
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            743..763
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            777..797
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            847..867
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            1140..1160
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            1169..1189
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            1192..1212
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            1237..1257
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC9.2)"
     Site            1269..1289
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC9.2)"
     CDS             1..1359
                     /gene="NPC1L1"
                     /gene_synonym="LDLCQ7; NPC11L1; SLC65A2"
                     /coded_by="NM_013389.3:72..4151"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS5491.1"
                     /db_xref="GeneID:29881"
                     /db_xref="HGNC:HGNC:7898"
                     /db_xref="MIM:608010"
ORIGIN      
        1 maeaglrgwl lwalllrlaq sepyttihqp gycafydecg knpelsgslm tlsnvsclsn
       61 tparkitgdh lillqkicpr lytgpntqac csakqlvsle aslsitkall trcpacsdnf
      121 vnlhchntcs pnqslfinvt rvaqlgagql pavvayeafy qhsfaeqsyd scsrvrvpaa
      181 atlavgtmcg vygsalcnaq rwlnfqgdtg nglaplditf hllepgqavg sgiqplnegv
      241 arcnesqgdd vatcscqdca ascpaiarpq aldstfylgq mpgslvliii lcsvfavvti
      301 llvgfrvapa rdkskmvdpk kgtslsdkls fsthtllgqf fqgwgtwvas wpltilvlsv
      361 ipvvalaagl vftelttdpv elwsapnsqa rsekafhdqh fgpffrtnqv iltapnrssy
      421 rydslllgpk nfsgildldl llellelqer lrhlqvwspe aqrnislqdi cyaplnpdnt
      481 slydccinsl lqyfqnnrtl llltanqtlm gqtsqvdwkd hflycanapl tfkdgtalal
      541 scmadygapv fpflaiggyk gkdyseaeal imtfslnnyp agdprlaqak lweeafleem
      601 rafqrrmagm fqvtfmaers ledeinrtta edlpifatsy iviflyisla lgsysswsrv
      661 mvdskatlgl ggvavvlgav maamgffsyl girsslvilq vvpflvlsvg adnififvle
      721 yqrlprrpge prevhigral grvapsmllc slseaicffl galtpmpavr tfaltsglav
      781 ildfllqmsa fvallsldsk rqeasrldvc ccvkpqelpp pgqgeglllg ffqkayapfl
      841 lhwitrgvvl llflalfgvs lysmchisvg ldqelalpkd sylldyflfl nryfevgapv
      901 yfvttlgynf sseagmnaic ssagcnnfsf tqkiqyatef peqsylaipa sswvddfidw
      961 ltpssccrly isgpnkdkfc pstvnslncl kncmsitmgs vrpsveqfhk ylpwflndrp
     1021 nikcpkggla aystsvnlts dgqvldtvai lsprleysgt isahcnlyll dstsrfmayh
     1081 kplknsqdyt ealraarela anitadlrkv pgtdpafevf pytitnvfye qyltilpegl
     1141 fmlslclvpt favsclllgl dlrsgllnll sivmilvdtv gfmalwgisy navslinlvs
     1201 avgmsvefvs hitrsfaist kptwlerake atismgsavf agvamtnlpg ilvlglakaq
     1261 liqifffrln llitllgllh glvflpvils yvgpdvnpal aleqkraeea vaavmvascp
     1321 nhpsrvstad niyvnhsfeg sikgagaisn flpnngrqf
//
LOCUS       NP_077741                839 aa            linear   PRI 26-MAR-2023
DEFINITION  desmocollin-3 isoform Dsc3b preproprotein [Homo sapiens].
ACCESSION   NP_077741
VERSION     NP_077741.2
DBSOURCE    REFSEQ: accession NM_024423.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 839)
  AUTHORS   Kawamura T, Muramatsu K, Orita A, Mai Y, Sugai T, Haga N, Fujimura
            Y, Miyauchi T, Izumi K, Koga H, Ishii N and Ujiie H.
  TITLE     Two cases of Hallopeau-type pemphigus vegetans with anti-desmoglein
            1 and anti-desmocollin 3 antibodies without mucosal involvement
  JOURNAL   J Eur Acad Dermatol Venereol 37 (4), e508-e510 (2023)
   PUBMED   36305887
  REMARK    GeneRIF: Two cases of Hallopeau-type pemphigus vegetans with
            anti-desmoglein 1 and anti-desmocollin 3 antibodies without mucosal
            involvement.
REFERENCE   2  (residues 1 to 839)
  AUTHORS   Koga H, Teye K, Otsuji Y, Ishii N, Hashimoto T and Nakama T.
  TITLE     Autoantibodies to DSC3 in Pemphigus Exclusively Recognize
            Calcium-Dependent Epitope in Extracellular Domain 2
  JOURNAL   J Invest Dermatol 141 (9), 2123-2131 (2021)
   PUBMED   33766509
  REMARK    GeneRIF: Autoantibodies to DSC3 in Pemphigus Exclusively Recognize
            Calcium-Dependent Epitope in Extracellular Domain 2.
REFERENCE   3  (residues 1 to 839)
  AUTHORS   Cui T, Yang L, Ma Y, Petersen I and Chen Y.
  TITLE     Desmocollin 3 has a tumor suppressive activity through inhibition
            of AKT pathway in colorectal cancer
  JOURNAL   Exp Cell Res 378 (2), 124-130 (2019)
   PUBMED   30857973
  REMARK    GeneRIF: DSC3 suppresses colorectal cancer cell growth through
            inhibition of AKT pathway and regulation of E-cadherin
REFERENCE   4  (residues 1 to 839)
  AUTHORS   Hart ML, Rusch E, Kaupp M, Nieselt K and Aicher WK.
  TITLE     Expression of Desmoglein 2, Desmocollin 3 and Plakophilin 2 in
            Placenta and Bone Marrow-Derived Mesenchymal Stromal Cells
  JOURNAL   Stem Cell Rev Rep 13 (2), 258-266 (2017)
   PUBMED   28154962
  REMARK    GeneRIF: Data show that fetal pMSCs (mesenchymal stromal cells)
            expressing the highest levels of desmoglein 2, desmocollin 3 and
            plakophilin 2, followed by maternal pMSCs, while bmMSCs expressed
            the lowest levels.
REFERENCE   5  (residues 1 to 839)
  AUTHORS   Gadhavi PL, Greenwood MD, Strom M, King IA and Buxton RS.
  TITLE     The regulatory region of the human desmocollin 3 promoter forms a
            DNA four-way junction
  JOURNAL   Biochem Biophys Res Commun 281 (2), 520-528 (2001)
   PUBMED   11181078
REFERENCE   6  (residues 1 to 839)
  AUTHORS   Whittock NV, Hunt DM, Rickman L, Malhi S, Vogazianou AP, Dawson LF,
            Eady RA, Buxton RS and McGrath JA.
  TITLE     Genomic organization and amplification of the human desmosomal
            cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3
  JOURNAL   Biochem Biophys Res Commun 276 (2), 454-460 (2000)
   PUBMED   11027496
REFERENCE   7  (residues 1 to 839)
  AUTHORS   King IA, Sullivan KH, Bennett R Jr and Buxton RS.
  TITLE     The desmocollins of human foreskin epidermis: identification and
            chromosomal assignment of a third gene and expression patterns of
            the three isoforms
  JOURNAL   J Invest Dermatol 105 (3), 314-321 (1995)
   PUBMED   7665906
REFERENCE   8  (residues 1 to 839)
  AUTHORS   Amagai M, Wang Y, Minoshima S, Kawamura K, Green KJ, Nishikawa T
            and Shimizu N.
  TITLE     Assignment of the human genes for desmocollin 3 (DSC3) and
            desmocollin 4 (DSC4) to chromosome 18q12
  JOURNAL   Genomics 25 (1), 330-332 (1995)
   PUBMED   7774948
REFERENCE   9  (residues 1 to 839)
  AUTHORS   Kawamura K, Watanabe K, Suzuki T, Yamakawa T, Kamiyama T, Nakagawa
            H and Tsurufuji S.
  TITLE     cDNA cloning and expression of a novel human desmocollin
  JOURNAL   J Biol Chem 269 (42), 26295-26302 (1994)
   PUBMED   7929347
REFERENCE   10 (residues 1 to 839)
  AUTHORS   Arnemann J, Spurr NK, Wheeler GN, Parker AE and Buxton RS.
  TITLE     Chromosomal assignment of the human genes coding for the major
            proteins of the desmosome junction, desmoglein DGI (DSG),
            desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and
            plakoglobin DPIII (JUP)
  JOURNAL   Genomics 10 (3), 640-645 (1991)
   PUBMED   1889810
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA860471.1, D17427.1,
            BG697535.1, BG214334.1, AC025212.5 and AI123917.1.
            On Jun 2, 2007 this sequence version replaced NP_077741.1.
            
            Summary: The protein encoded by this gene is a calcium-dependent
            glycoprotein that is a member of the desmocollin subfamily of the
            cadherin superfamily. These desmosomal family members, along with
            the desmogleins, are found primarily in epithelial cells where they
            constitute the adhesive proteins of the desmosome cell-cell
            junction and are required for cell adhesion and desmosome
            formation. The desmosomal family members are arranged in two
            clusters on chromosome 18, occupying less than 650 kb combined.
            Mutations in this gene are a cause of hypotrichosis and recurrent
            skin vesicles disorder. The protein can act as an autoantigen in
            pemphigus diseases, and it is also considered to be a biomarker for
            some cancers. Alternative splicing of this gene results in multiple
            transcript variants. [provided by RefSeq, Apr 2014].
            
            Transcript Variant: This variant (Dsc3b) includes an additional
            exon in the 3' region and it thus differs in its 3' coding region
            and 3' UTR, compared to variant Dsc3a. The encoded isoform (Dsc3b)
            has a distinct C-terminus and is shorter than isoform Dsc3a. There
            are no publicly available full-length transcripts representing this
            variant, but it is supported by mRNA annotation on DNA accession
            AF293359.1, and by data in PMIDs 7929347 and 11027496.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853566.12793.1,
                                           SRR18074967.2684122.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..839
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     Protein         1..839
                     /product="desmocollin-3 isoform Dsc3b preproprotein"
                     /note="desmocollin-4; cadherin family member 3"
                     /calculated_mol_wt=90235
     sig_peptide     1..31
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3237
     Region          27..111
                     /region_name="Cadherin_pro"
                     /note="Cadherin prodomain like; smart01055"
                     /db_xref="CDD:214999"
     Region          140..234
                     /region_name="Cadherin"
                     /note="Cadherin domain; pfam00028"
                     /db_xref="CDD:394985"
     Site            166
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14574.3)"
     Region          247..351
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(254..255,312,314,347,349..350)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          360..462
                     /region_name="Cadherin"
                     /note="Cadherin domain; pfam00028"
                     /db_xref="CDD:394985"
     Site            392
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14574.3)"
     Region          477..573
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(482..483,534,536,569,571..572)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            546
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14574.3)"
     Region          <596..669
                     /region_name="Cadherin"
                     /note="Cadherin domain; pfam00028"
                     /db_xref="CDD:394985"
     Site            629
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14574.3)"
     Site            691..711
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14574.3)"
     CDS             1..839
                     /gene="DSC3"
                     /gene_synonym="CDHF3; DSC; DSC1; DSC2; DSC4; HT-CP"
                     /coded_by="NM_024423.4:83..2602"
                     /note="isoform Dsc3b preproprotein is encoded by
                     transcript variant Dsc3b"
                     /db_xref="GeneID:1825"
                     /db_xref="HGNC:HGNC:3037"
                     /db_xref="MIM:600271"
ORIGIN      
        1 maaagprrsv rgavclhlll tlvifsrage ackkvilnvp skleadkiig rvnleecfrs
       61 adlirssdpd frvlndgsvy taravalsdk krsftiwlsd krkqtqkevt vllehqkkvs
      121 ktrhtretvl rrakrrwapi pcsmqenslg pfplflqqve sdaaqnytvf ysisgrgvdk
      181 eplnlfyier dtgnlfctrp vdreeydvfd liayastadg ysadlplplp irvedendnh
      241 pvfteaiynf evlessrpgt tvgvvcatdr depdtmhtrl kysilqqtpr spglfsvhps
      301 tgvittvshy ldrevvdkys limkvqdmdg qffgligtst ciitvtdsnd naptfrqnay
      361 eafveenafn veilripied kdlintanwr vnftilkgne nghfkistdk etnegvlsvv
      421 kplnyeenrq vnleigvnne apfardiprv talnralvtv hvrdldegpe ctpaaqyvri
      481 kenlavgski ngykaydpen rngnglrykk lhdpkgwiti deisgsiits kildrevetp
      541 knelynitvl aidkddrsct gtlavniedv ndnppeilqe yvvickpkmg ytdilavdpd
      601 epvhgapfyf slpntspeis rlwsltkvnd taarlsyqkn agfqeytipi tvkdragqaa
      661 tkllrvnlce cthptqcrat srstgvilgk wailaillgi allfsvlltl vcgvfgatkg
      721 krfpedlaqq nliisnteap gddrvcsang fmtqttnnss qgfcgtmgsg mknggqetie
      781 mmkggnqtle scrgaghhht ldscrgghte vdncrytyse whsftqprlg eesirghtg
//
LOCUS       NP_001400056            1017 aa            linear   PRI 26-MAR-2023
DEFINITION  rho GTPase-activating protein 7 isoform 4 [Homo sapiens].
ACCESSION   NP_001400056
VERSION     NP_001400056.1
DBSOURCE    REFSEQ: accession NM_001413127.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1017)
  AUTHORS   Pan J, Li D, Fan X, Cheng J, Jin S, Chen P, Lin H and Li Y.
  TITLE     Aberrant DNA Methylation Patterns of Deleted in Liver Cancer 1
            Isoforms in Hepatocellular Carcinoma
  JOURNAL   DNA Cell Biol 42 (3), 140-150 (2023)
   PUBMED   36917700
  REMARK    GeneRIF: Aberrant DNA Methylation Patterns of Deleted in Liver
            Cancer 1 Isoforms in Hepatocellular Carcinoma.
REFERENCE   2  (residues 1 to 1017)
  AUTHORS   Wang CS, Zhang XB, Zhu XT and Chen RS.
  TITLE     NBR2/miR-561-5p/DLC1 axis inhibited the development of multiple
            myeloma by activating the AMPK/mTOR pathway to repress glycolysis
  JOURNAL   Neoplasma 69 (5), 1165-1174 (2022)
   PUBMED   35951458
  REMARK    GeneRIF: NBR2/miR-561-5p/DLC1 axis inhibited the development of
            multiple myeloma by activating the AMPK/mTOR pathway to repress
            glycolysis.
REFERENCE   3  (residues 1 to 1017)
  AUTHORS   Li Z, Wang Y, Liu S, Li W, Wang Z, Jia Z, Zhu Z and Bao Y.
  TITLE     MiR-200a-3p promotes gastric cancer progression by targeting DLC-1
  JOURNAL   J Mol Histol 53 (1), 39-49 (2022)
   PUBMED   34751841
  REMARK    GeneRIF: MiR-200a-3p promotes gastric cancer progression by
            targeting DLC-1.
REFERENCE   4  (residues 1 to 1017)
  AUTHORS   Riazalhosseini B, Mohamed R, Devi Apalasamy Y and Mohamed Z.
  TITLE     Association of deleted in liver cancer-1 gene polymorphism with
            increased risk of chronicity of disease among Malaysian patients
            with hepatitis B infection
  JOURNAL   Pharmacogenet Genomics 31 (9), 185-190 (2021)
   PUBMED   34320605
  REMARK    GeneRIF: Association of deleted in liver cancer-1 gene polymorphism
            with increased risk of chronicity of disease among Malaysian
            patients with hepatitis B infection.
REFERENCE   5  (residues 1 to 1017)
  AUTHORS   Sanchez-Solana B, Wang D, Qian X, Velayoudame P, Simanshu DK,
            Acharya JK and Lowy DR.
  TITLE     The tumor suppressor activity of DLC1 requires the interaction of
            its START domain with Phosphatidylserine, PLCD1, and Caveolin-1
  JOURNAL   Mol Cancer 20 (1), 141 (2021)
   PUBMED   34727930
  REMARK    GeneRIF: The tumor suppressor activity of DLC1 requires the
            interaction of its START domain with Phosphatidylserine, PLCD1, and
            Caveolin-1.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1017)
  AUTHORS   Yuan BZ, Zhou X, Durkin ME, Zimonjic DB, Gumundsdottir K, Eyfjord
            JE, Thorgeirsson SS and Popescu NC.
  TITLE     DLC-1 gene inhibits human breast cancer cell growth and in vivo
            tumorigenicity
  JOURNAL   Oncogene 22 (3), 445-450 (2003)
   PUBMED   12545165
  REMARK    GeneRIF: Genomic deletion of DLC-1 was observed in 40% of breast
            tumors, whereas reduced levels of DLC-1 mRNA were seen in 70% of
            breast, 70% of colon, 50% of prostate tumor cell lines.DLC-1 gene
            plays a role in breast cancer by acting as a tumor suppressor gene
REFERENCE   7  (residues 1 to 1017)
  AUTHORS   Yuan BZ, Durkin ME and Popescu NC.
  TITLE     Promoter hypermethylation of DLC-1, a candidate tumor suppressor
            gene, in several common human cancers
  JOURNAL   Cancer Genet Cytogenet 140 (2), 113-117 (2003)
   PUBMED   12645648
  REMARK    GeneRIF: Differences in promoter hypermethylation were seen in 12
            hepatocellular carcinoma, breast, colon, and prostate tumor cell
            lines with aberrant DLC-1 expression. Hypermethylation abrogates
            the function of the DLC-1 gene in a subset of these cancers.
REFERENCE   8  (residues 1 to 1017)
  AUTHORS   Wilson PJ, McGlinn E, Marsh A, Evans T, Arnold J, Wright K, Biden
            K, Young J, Wainwright B, Wicking C and Chenevix-Trench G.
  TITLE     Sequence variants of DLC1 in colorectal and ovarian tumours
  JOURNAL   Hum Mutat 15 (2), 156-165 (2000)
   PUBMED   10649492
REFERENCE   9  (residues 1 to 1017)
  AUTHORS   Yuan BZ, Yang Y, Keck-Waggoner CL, Zimonjic DB, Thorgeirsson SS and
            Popescu NC.
  TITLE     Assignment and cloning of mouse Arhgap7 to chromosome 8A4-B2, a
            conserved syntenic region of human chromosome 8p22-->p21
  JOURNAL   Cytogenet Cell Genet 87 (3-4), 189-190 (1999)
   PUBMED   10702663
REFERENCE   10 (residues 1 to 1017)
  AUTHORS   Yuan BZ, Miller MJ, Keck CL, Zimonjic DB, Thorgeirsson SS and
            Popescu NC.
  TITLE     Cloning, characterization, and chromosomal localization of a gene
            frequently deleted in human liver cancer (DLC-1) homologous to rat
            RhoGAP
  JOURNAL   Cancer Res 58 (10), 2196-2199 (1998)
   PUBMED   9605766
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC106845.8 and AC015641.9.
            
            Summary: This gene encodes a GTPase-activating protein (GAP) that
            is a member of the rhoGAP family of proteins which play a role in
            the regulation of small GTP-binding proteins. GAP family proteins
            participate in signaling pathways that regulate cell processes
            involved in cytoskeletal changes. This gene functions as a tumor
            suppressor gene in a number of common cancers, including prostate,
            lung, colorectal, and breast cancers. Multiple transcript variants
            due to alternative promoters and alternative splicing have been
            found for this gene.[provided by RefSeq, Apr 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.895052.1,
                                           SRR14038192.3633430.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1017
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22"
     Protein         1..1017
                     /product="rho GTPase-activating protein 7 isoform 4"
                     /note="StAR-related lipid transfer (START) domain
                     containing 12; Rho-GTPase-activating protein 7; rho
                     GTPase-activating protein 7; deleted in liver cancer 1
                     protein; START domain-containing protein 12; rho-type
                     GTPase-activating protein 7; epididymis secretory sperm
                     binding protein"
                     /calculated_mol_wt=114021
     Region          561..779
                     /region_name="RhoGAP_DLC1"
                     /note="RhoGAP (GTPase-activator protein [GAP] for Rho-like
                     small GTPases) domain of DLC1-like proteins. DLC1 shows in
                     vitro GAP activity towards RhoA and CDC42. Beside its
                     C-terminal GAP domain, DLC1 also contains a SAM (sterile
                     alpha motif) and a START...; cd04375"
                     /db_xref="CDD:239840"
     Site            order(603,640,644,713,716..717,759)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239840"
     Site            603
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239840"
     Region          804..1007
                     /region_name="START_STARD12-like"
                     /note="C-terminal lipid-binding START domain of mammalian
                     STARD12 and related proteins, which also have an
                     N-terminal Rho GTPase-activating protein (RhoGAP) domain;
                     cd08908"
                     /db_xref="CDD:176917"
     Site            order(835..836,844,857,859,870,874,878,881..882,884..885,
                     903,905..908,911,914,916,918,935,950,952..955,957,969,971,
                     973,975,977,979,986,988..990,992..994,996..997,1000)
                     /site_type="other"
                     /note="putative lipid binding site [chemical binding]"
                     /db_xref="CDD:176917"
     CDS             1..1017
                     /gene="DLC1"
                     /gene_synonym="ARHGAP7; HP; p122-RhoGAP; STARD12"
                     /coded_by="NM_001413127.1:401..3454"
                     /note="isoform 4 is encoded by transcript variant 13"
                     /db_xref="GeneID:10395"
                     /db_xref="HGNC:HGNC:2897"
                     /db_xref="MIM:604258"
ORIGIN      
        1 mkleisphrk rsddsdedep caisgkwtfq rdskrwsrle efdvfspkqd lvpgspddsh
       61 pkdgpspggt lmdlserqev ssvrslsstg slpshappse daatprtnsv isvcsssnla
      121 gnddsfgslp spkelssfsf smkghektak sktrsllkrm eslklksshh skhkapsklg
      181 liisgpilqe gmdeeklkql ncveisalng nrinvpmvrk rsvsnstqts ssssqsetss
      241 avstpspvtr trslsacnkr vgmylegfdp fnqstfnnvv eqnfknresy pedtvfyipe
      301 dhkpgtfpka ltngsfspsg nngsvnwrtg sfhgpghisl rrenssdspk elkrrnssss
      361 mssrlsiydn vpgsilysss gdladlened ifpelddily hvkgmqrivn qwsekfsdeg
      421 dsdsaldsvs pcpsspkqih ldvdndrttp sdldstgnsl nepeepseip errdsgvgas
      481 ltrsnrhrlr whsfqsshrp slnsvslqin cqsvaqmnll qkysllklta llekytpsnk
      541 hgfswavpkf mkrikvpdyk drsvfgvplt vnvqrtgqpl pqsiqqamry lrnhcldqvg
      601 lfrksgvksr iqalrqmneg aidcvnyegq saydvadmlk qyfrdlpepl mtnklsetfl
      661 qiyqyvpkdq rlqaikaaim llpdenrevl qtllyflsdv taavkenqmt ptnlavclap
      721 slfhlntlkr enssprvmqr kqslgkpdqk dlnenlaatq glahmiaeck klfqvpeems
      781 rcrnsyteqe lkpltlealg hlgnddsady qhflqdcvdg lfkevkekfk gwvsystseq
      841 aelsykkvse gpplrlwrsv ievpavpeei lkrllkeqhl wdvdlldskv ieildsqtei
      901 yqyvqnsmap hpardyvvlr twrtnlpkga callltsvdh drapvvgvrv nvllsrylie
      961 pcgpgksklt ymcrvdlrgh mpewytksfg hlcaaevvki rdsfsnqnte tkdtksr
//
LOCUS       NP_065198                371 aa            linear   PRI 26-MAR-2023
DEFINITION  protein NDRG4 isoform 1 [Homo sapiens].
ACCESSION   NP_065198
VERSION     NP_065198.1
DBSOURCE    REFSEQ: accession NM_020465.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 371)
  AUTHORS   Zuo H, Liu S, Li X and Hou G.
  TITLE     miR-23a-3p promotes the development of colon cancer by inhibiting
            the expression of NDRG4
  JOURNAL   Clin Transl Oncol 25 (4), 933-940 (2023)
   PUBMED   36374403
  REMARK    GeneRIF: miR-23a-3p promotes the development of colon cancer by
            inhibiting the expression of NDRG4.
REFERENCE   2  (residues 1 to 371)
  AUTHORS   Yang Z, Cheng H, Zhang Y and Zhou Y.
  TITLE     Errate: Identification of NDRG Family Member 4 (NDRG4) and CDC28
            Protein Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic Genes
            in Adrenocortical Carcinoma by Transcriptomic Analysis
  JOURNAL   Med Sci Monit 28, e937786 (2022)
   PUBMED   35899496
  REMARK    GeneRIF: Errate: Identification of NDRG Family Member 4 (NDRG4) and
            CDC28 Protein Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic
            Genes in Adrenocortical Carcinoma by Transcriptomic Analysis.
            Correction to:[Med Sci Monit. 2021 Mar 05;27:e928523. PMID:
            33667214]
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 371)
  AUTHORS   Ji X, Sha J, Qian H, Zhang G, He T and Dang Y.
  TITLE     Highly sensitive fecal DNA testing of NDRG4 12b methylation is a
            promising marker for detection of colorectal precancerosis
  JOURNAL   J BUON 26 (4), 1239-1245 (2021)
   PUBMED   34564976
  REMARK    GeneRIF: Highly sensitive fecal DNA testing of NDRG4 12b
            methylation is a promising marker for detection of colorectal
            precancerosis.
REFERENCE   4  (residues 1 to 371)
  AUTHORS   Vaes N, Schonkeren SL, Rademakers G, Holland AM, Koch A, Gijbels
            MJ, Keulers TG, de Wit M, Moonen L, Van der Meer JRM, van den
            Boezem E, Wolfs TGAM, Threadgill DW, Demmers J, Fijneman RJA,
            Jimenez CR, Vanden Berghe P, Smits KM, Rouschop KMA, Boesmans W,
            Hofstra RMW and Melotte V.
  TITLE     Loss of enteric neuronal Ndrg4 promotes colorectal cancer via
            increased release of Nid1 and Fbln2
  JOURNAL   EMBO Rep 22 (6), e51913 (2021)
   PUBMED   33890711
  REMARK    GeneRIF: Loss of enteric neuronal Ndrg4 promotes colorectal cancer
            via increased release of Nid1 and Fbln2.
REFERENCE   5  (residues 1 to 371)
  AUTHORS   Yang Z, Cheng H, Zhang Y and Zhou Y.
  TITLE     Identification of NDRG Family Member 4 (NDRG4) and CDC28 Protein
            Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic Genes in
            Adrenocortical Carcinoma by Transcriptomic Analysis
  JOURNAL   Med Sci Monit 27, e928523 (2021)
   PUBMED   33667214
  REMARK    GeneRIF: Identification of NDRG Family Member 4 (NDRG4) and CDC28
            Protein Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic Genes
            in Adrenocortical Carcinoma by Transcriptomic Analysis.
            Erratum:[Med Sci Monit. 2022 Jul 28;28:e937786. PMID: 35899496]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 371)
  AUTHORS   Hongo S, Watanabe T, Takahashi K and Miyazaki A.
  TITLE     Ndrg4 enhances NGF-induced ERK activation uncoupled with Elk-1
            activation
  JOURNAL   J Cell Biochem 98 (1), 185-193 (2006)
   PUBMED   16408304
  REMARK    GeneRIF: NDRG4 overexpression enhances ERK activation
REFERENCE   7  (residues 1 to 371)
  AUTHORS   Nishimoto S, Tawara J, Toyoda H, Kitamura K and Komurasaki T.
  TITLE     A novel homocysteine-responsive gene, smap8, modulates mitogenesis
            in rat vascular smooth muscle cells
  JOURNAL   Eur J Biochem 270 (11), 2521-2531 (2003)
   PUBMED   12755708
  REMARK    GeneRIF: smap8 is involved in the regulation of mitogenic
            signalling in vascular smooth muscle cells, possibly in response to
            a homocysteine-induced injury [SMAP8]
REFERENCE   8  (residues 1 to 371)
  AUTHORS   Ohki T, Hongo S, Nakada N, Maeda A and Takeda M.
  TITLE     Inhibition of neurite outgrowth by reduced level of NDRG4 protein
            in antisense transfected PC12 cells
  JOURNAL   Brain Res Dev Brain Res 135 (1-2), 55-63 (2002)
   PUBMED   11978393
REFERENCE   9  (residues 1 to 371)
  AUTHORS   Qu X, Zhai Y, Wei H, Zhang C, Xing G, Yu Y and He F.
  TITLE     Characterization and expression of three novel
            differentiation-related genes belong to the human NDRG gene family
  JOURNAL   Mol Cell Biochem 229 (1-2), 35-44 (2002)
   PUBMED   11936845
  REMARK    GeneRIF: Cloning and expression of the gene; specifically expressed
            in brain and heart
REFERENCE   10 (residues 1 to 371)
  AUTHORS   Zhou RH, Kokame K, Tsukamoto Y, Yutani C, Kato H and Miyata T.
  TITLE     Characterization of the human NDRG gene family: a newly identified
            member, NDRG4, is specifically expressed in brain and heart
  JOURNAL   Genomics 73 (1), 86-97 (2001)
   PUBMED   11352569
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA242460.1, AC009118.11,
            KF456201.1 and BC011795.2.
            
            Summary: This gene is a member of the N-myc downregulated gene
            family which belongs to the alpha/beta hydrolase superfamily. The
            protein encoded by this gene is a cytoplasmic protein that is
            required for cell cycle progression and survival in primary
            astrocytes and may be involved in the regulation of mitogenic
            signalling in vascular smooth muscles cells. Alternative splicing
            results in multiple transcripts encoding different
            isoforms.[provided by RefSeq, Jun 2011].
            
            Transcript Variant: This variant (1) differs in the 5' UTR which
            results in the use of an in-frame downstream translation initiation
            codon, compared to variant 2. The encoded protein (isoform 1; also
            known as NDRG4-H) has a shorter N-terminus, compared to isoform 2.
            Variants 1 and 3 encode the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB021172.1, SRR18074967.3720455.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..371
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q21"
     Protein         1..371
                     /product="protein NDRG4 isoform 1"
                     /note="smooth muscle-associated protein 8; protein NDRG4;
                     brain development-related molecule 1; vascular smooth
                     muscle cell-associated protein 8; N-myc
                     downstream-regulated gene 4 protein"
                     /calculated_mol_wt=40514
     Region          40..322
                     /region_name="Ndr"
                     /note="Ndr family; pfam03096"
                     /db_xref="CDD:397285"
     CDS             1..371
                     /gene="NDRG4"
                     /gene_synonym="BDM1; SMAP-8; SMAP8"
                     /coded_by="NM_020465.4:107..1222"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS10797.1"
                     /db_xref="GeneID:65009"
                     /db_xref="HGNC:HGNC:14466"
                     /db_xref="MIM:614463"
ORIGIN      
        1 maglqelrfp eekpllrgqd atelessdaf llaadtdwke hdietpygll hvvirgspkg
       61 nrpailtyhd vglnhklcfn tffnfedmqe itkhfvvchv dapgqqvgas qfpqgyqfps
      121 meqlaamlps vvqhfgfkyv igigvgagay vlakfalifp dlveglvlvn idpngkgwid
      181 waatklsglt stlpdtvlsh lfsqeelvnn telvqsyrqq ignvvnqanl qlfwnmynsr
      241 rdldinrpgt vpnaktlrcp vmlvvgdnap aedgvvecns kldpttttfl kmadsgglpq
      301 vtqpgkltea fkyflqgmgy mpsasmtrla rsrtasltsa ssvdgsrpqa cthsessegl
      361 gqvnhtmevs c
//
LOCUS       NP_001363210             545 aa            linear   PRI 26-MAR-2023
DEFINITION  serine/threonine-protein kinase PAK 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001363210
VERSION     NP_001363210.1
DBSOURCE    REFSEQ: accession NM_001376281.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 545)
  AUTHORS   Yi Q, Chen T, Zhou K, Ma Q, Sun Z and Shi H.
  TITLE     PAK1 Inhibition Suppresses the Proliferation, Migration and
            Invasion of Glioma Cells
  JOURNAL   Curr Protein Pept Sci 24 (2), 178-189 (2023)
   PUBMED   36573046
  REMARK    GeneRIF: PAK1 Inhibition Suppresses the Proliferation, Migration
            and Invasion of Glioma Cells.
REFERENCE   2  (residues 1 to 545)
  AUTHORS   Li M, Zhou J, Zhang Z, Li J, Wang F, Ma L, Tian X, Mao Z and Yang
            Y.
  TITLE     Exosomal miR-485-3p derived from pancreatic ductal epithelial cells
            inhibits pancreatic cancer metastasis through targeting PAK1
  JOURNAL   Chin Med J (Engl) 135 (19), 2326-2337 (2022)
   PUBMED   36535010
  REMARK    GeneRIF: Exosomal miR-485-3p derived from pancreatic ductal
            epithelial cells inhibits pancreatic cancer metastasis through
            targeting PAK1.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 545)
  AUTHORS   Wang SJ, Wang CQ, Hu XT, Yu XR and Fu CL.
  TITLE     [Blocking PAK1 kinase activity promotes the differentiation of
            acute megakaryocytic leukemia cells and induces their apoptosis]
  JOURNAL   Zhonghua Xue Ye Xue Za Zhi 43 (6), 499-505 (2022)
   PUBMED   35968594
  REMARK    GeneRIF: [Blocking PAK1 kinase activity promotes the
            differentiation of acute megakaryocytic leukemia cells and induces
            their apoptosis].
REFERENCE   4  (residues 1 to 545)
  AUTHORS   Merz KE, Tunduguru R, Ahn M, Salunkhe VA, Veluthakal R, Hwang J,
            Bhattacharya S, McCown EM, Garcia PA, Zhou C, Oh E, Yoder SM,
            Elmendorf JS and Thurmond DC.
  TITLE     Changes in Skeletal Muscle PAK1 Levels Regulate Tissue Crosstalk to
            Impact Whole Body Glucose Homeostasis
  JOURNAL   Front Endocrinol (Lausanne) 13, 821849 (2022)
   PUBMED   35222279
  REMARK    GeneRIF: Changes in Skeletal Muscle PAK1 Levels Regulate Tissue
            Crosstalk to Impact Whole Body Glucose Homeostasis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 545)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   6  (residues 1 to 545)
  AUTHORS   Manser E, Huang HY, Loo TH, Chen XQ, Dong JM, Leung T and Lim L.
  TITLE     Expression of constitutively active alpha-PAK reveals effects of
            the kinase on actin and focal complexes
  JOURNAL   Mol Cell Biol 17 (3), 1129-1143 (1997)
   PUBMED   9032240
REFERENCE   7  (residues 1 to 545)
  AUTHORS   Bokoch GM, Wang Y, Bohl BP, Sells MA, Quilliam LA and Knaus UG.
  TITLE     Interaction of the Nck adapter protein with p21-activated kinase
            (PAK1)
  JOURNAL   J Biol Chem 271 (42), 25746-25749 (1996)
   PUBMED   8824201
REFERENCE   8  (residues 1 to 545)
  AUTHORS   Brown JL, Stowers L, Baer M, Trejo J, Coughlin S and Chant J.
  TITLE     Human Ste20 homologue hPAK1 links GTPases to the JNK MAP kinase
            pathway
  JOURNAL   Curr Biol 6 (5), 598-605 (1996)
   PUBMED   8805275
REFERENCE   9  (residues 1 to 545)
  AUTHORS   Martin GA, Bollag G, McCormick F and Abo A.
  TITLE     A novel serine kinase activated by rac1/CDC42Hs-dependent
            autophosphorylation is related to PAK65 and STE20
  JOURNAL   EMBO J 14 (9), 1970-1978 (1995)
   PUBMED   7744004
  REMARK    Erratum:[EMBO J. 1995 Sep 1;14(17):4385. PMID: 7556080]
REFERENCE   10 (residues 1 to 545)
  AUTHORS   Manser E, Leung T, Salihuddin H, Zhao ZS and Lim L.
  TITLE     A brain serine/threonine protein kinase activated by Cdc42 and Rac1
  JOURNAL   Nature 367 (6458), 40-46 (1994)
   PUBMED   8107774
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003680.2 and AP000486.6.
            
            Summary: This gene encodes a family member of serine/threonine
            p21-activating kinases, known as PAK proteins. These proteins are
            critical effectors that link RhoGTPases to cytoskeleton
            reorganization and nuclear signaling, and they serve as targets for
            the small GTP binding proteins Cdc42 and Rac. This specific family
            member regulates cell motility and morphology. Mutations in this
            gene have been associated with macrocephaly, seizures, and speech
            delay. Overexpression of this gene is also reported in many cancer
            types, and particularly in breast cancer. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Aug
            2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1115507.1,
                                           SRR14038196.1453739.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..545
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.5-q14.1"
     Protein         1..545
                     /product="serine/threonine-protein kinase PAK 1 isoform 2"
                     /EC_number="2.7.11.1"
                     /note="p21/Cdc42/Rac1-activated kinase 1 (yeast
                     Ste20-related); p21/Cdc42/Rac1-activated kinase 1 (STE20
                     homolog, yeast); serine/threonine-protein kinase PAK 1;
                     p21 protein (Cdc42/Rac)-activated kinase 1"
                     /calculated_mol_wt=60516
     Region          1..77
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13153.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            21
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKB and autocatalysis.
                     /evidence=ECO:0000269|PubMed:14585966,
                     ECO:0000269|PubMed:17989089; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            57
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:17989089; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Region          70..140
                     /region_name="Autoregulatory region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13153.2)"
     Region          74..132
                     /region_name="PBD"
                     /note="P21-Rho-binding domain; pfam00786"
                     /db_xref="CDD:395634"
     Site            order(75,78,81,83,86,103,107)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238526"
     Region          75..105
                     /region_name="GTPase-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13153.2)"
     Site            84
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by OXSR1.
                     /evidence=ECO:0000250|UniProtKB:P35465; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            115
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            131
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:17989089; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            142
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:17989089; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            144
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            149
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            153
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by JAK2.
                     /evidence=ECO:0000269|PubMed:17726028,
                     ECO:0000269|PubMed:17989089; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Region          159..198
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13153.2)"
     Site            174
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:17989089,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            185
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:17989089; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            199
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by autocatalysis.
                     /evidence=ECO:0000250|UniProtKB:P35465; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            201
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by JAK2.
                     /evidence=ECO:0000269|PubMed:17726028; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            204
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Region          211..251
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13153.2)"
     Site            212
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:17989089,
                     ECO:0000269|PubMed:23260667, ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            219
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            220
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            223
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            225
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:O88643; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            229
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:O88643; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            230
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Region          249..544
                     /region_name="STKc_PAK1"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     p21-activated kinase 1; cd06654"
                     /db_xref="CDD:270820"
     Site            order(276..280,284,297,299,328,344..348,350..351,354,389,
                     391..394,396,406..407,410,423..427,429,456,465..467)
                     /site_type="active"
                     /db_xref="CDD:270820"
     Site            order(276..280,284,297,299,328,344..348,350..351,354,
                     393..394,396,406..407)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270820"
     Site            order(279..280,389,391..393,410,423..427,429,456,465..467)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270820"
     Site            order(281,315,384,386..389,407..408,435..436,438,443,468,
                     471,474)
                     /site_type="other"
                     /note="AID interaction site [polypeptide binding]"
                     /db_xref="CDD:270820"
     Site            285
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by JAK2.
                     /evidence=ECO:0000269|PubMed:17726028,
                     ECO:0000269|PubMed:17989089; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     Site            406..429
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270820"
     Site            423
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by autocatalysis, BRSK2 and
                     PDPK1. /evidence=ECO:0000269|PubMed:10551809,
                     ECO:0000269|PubMed:10995762, ECO:0000269|PubMed:22153498,
                     ECO:0000269|PubMed:22669945; propagated from
                     UniProtKB/Swiss-Prot (Q13153.2)"
     CDS             1..545
                     /gene="PAK1"
                     /gene_synonym="alpha-PAK; IDDMSSD; p65-PAK; PAKalpha"
                     /coded_by="NM_001376281.1:632..2269"
                     /note="isoform 2 is encoded by transcript variant 16"
                     /db_xref="CCDS:CCDS8250.1"
                     /db_xref="GeneID:5058"
                     /db_xref="HGNC:HGNC:8590"
                     /db_xref="MIM:602590"
ORIGIN      
        1 msnngldiqd kppappmrnt stmigagskd agtlnhgskp lppnpeekkk kdrfyrsilp
       61 gdktnkkkek erpeislpsd fehtihvgfd avtgeftgmp eqwarllqts nitkseqkkn
      121 pqavldvlef ynskktsnsq kymsftdksa edynssnaln vkavsetpav ppvsededdd
      181 dddatpppvi aprpehtksv ytrsvieplp vtptrdvats pisptenntt ppdaltrnte
      241 kqkkkpkmsd eeileklrsi vsvgdpkkky trfekigqga sgtvytamdv atgqevaikq
      301 mnlqqqpkke liineilvmr enknpnivny ldsylvgdel wvvmeylagg sltdvvtetc
      361 mdegqiaavc reclqalefl hsnqvihrdi ksdnillgmd gsvkltdfgf caqitpeqsk
      421 rstmvgtpyw mapevvtrka ygpkvdiwsl gimaiemieg eppylnenpl ralyliatng
      481 tpelqnpekl saifrdflnr clemdvekrg sakellqhqf lkiakplssl tpliaaakea
      541 tknnh
//
LOCUS       NP_001393708             815 aa            linear   PRI 26-MAR-2023
DEFINITION  proto-oncogene tyrosine-protein kinase receptor Ret isoform v
            precursor [Homo sapiens].
ACCESSION   NP_001393708
VERSION     NP_001393708.1
DBSOURCE    REFSEQ: accession NM_001406779.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 815)
  AUTHORS   Pecar G, Liu S, Hooda J, Atkinson JM, Oesterreich S and Lee AV.
  TITLE     RET signaling in breast cancer therapeutic resistance and
            metastasis
  JOURNAL   Breast Cancer Res 25 (1), 26 (2023)
   PUBMED   36918928
  REMARK    GeneRIF: RET signaling in breast cancer therapeutic resistance and
            metastasis.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 815)
  AUTHORS   Qi XM, Li WX, Huang JW, Huang ZG and Chen XH.
  TITLE     ['Graded early warning system' of RET germline mutation carriers in
            MEN2A/MEN2B families and total thyroidectomy (report of 7 cases)]
  JOURNAL   Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 58 (3), 212-217
            (2023)
   PUBMED   36878499
  REMARK    GeneRIF: ['Graded early warning system' of RET germline mutation
            carriers in MEN2A/MEN2B families and total thyroidectomy (report of
            7 cases)].
REFERENCE   3  (residues 1 to 815)
  AUTHORS   Marks BA, Pipia IM, Mukai C, Horibata S, Rice EJ, Danko CG and
            Coonrod SA.
  TITLE     GDNF-RET signaling and EGR1 form a positive feedback loop that
            promotes tamoxifen resistance via cyclin D1
  JOURNAL   BMC Cancer 23 (1), 138 (2023)
   PUBMED   36765275
  REMARK    GeneRIF: GDNF-RET signaling and EGR1 form a positive feedback loop
            that promotes tamoxifen resistance via cyclin D1.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 815)
  AUTHORS   Addeo A, Miranda-Morales E, den Hollander P, Friedlaender A, O
            Sintim H, Wu J, Mani SA and Subbiah V.
  TITLE     RET aberrant cancers and RET inhibitor therapies: Current
            state-of-the-art and future perspectives
  JOURNAL   Pharmacol Ther 242, 108344 (2023)
   PUBMED   36632846
  REMARK    GeneRIF: RET aberrant cancers and RET inhibitor therapies: Current
            state-of-the-art and future perspectives.
            Review article
REFERENCE   5  (residues 1 to 815)
  AUTHORS   Romei C, Ciampi R and Elisei R.
  TITLE     A comprehensive overview of the role of the RET proto-oncogene in
            thyroid carcinoma
  JOURNAL   Nat Rev Endocrinol 12 (4), 192-202 (2016)
   PUBMED   26868437
  REMARK    Review article
REFERENCE   6  (residues 1 to 815)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301612
REFERENCE   7  (residues 1 to 815)
  AUTHORS   Eng,C.
  TITLE     Multiple Endocrine Neoplasia Type 2
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301434
REFERENCE   8  (residues 1 to 815)
  AUTHORS   Itoh F, Ishizaka Y, Tahira T, Yamamoto M, Miya A, Imai K, Yachi A,
            Takai S, Sugimura T and Nagao M.
  TITLE     Identification and analysis of the ret proto-oncogene promoter
            region in neuroblastoma cell lines and medullary thyroid carcinomas
            from MEN2A patients
  JOURNAL   Oncogene 7 (6), 1201-1206 (1992)
   PUBMED   1350670
REFERENCE   9  (residues 1 to 815)
  AUTHORS   Santoro M, Carlomagno F, Hay ID, Herrmann MA, Grieco M, Melillo R,
            Pierotti MA, Bongarzone I, Della Porta G, Berger N et al.
  TITLE     Ret oncogene activation in human thyroid neoplasms is restricted to
            the papillary cancer subtype
  JOURNAL   J Clin Invest 89 (5), 1517-1522 (1992)
   PUBMED   1569189
REFERENCE   10 (residues 1 to 815)
  AUTHORS   Galland F, Stefanova M, Lafage M and Birnbaum D.
  TITLE     Localization of the 5' end of the MCF2 oncogene to human chromosome
            15q15----q23
  JOURNAL   Cytogenet Cell Genet 60 (2), 114-116 (1992)
   PUBMED   1611909
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010864.11.
            
            Summary: This gene encodes a transmembrane receptor and member of
            the tyrosine protein kinase family of proteins. Binding of ligands
            such as GDNF (glial cell-line derived neurotrophic factor) and
            other related proteins to the encoded receptor stimulates receptor
            dimerization and activation of downstream signaling pathways that
            play a role in cell differentiation, growth, migration and
            survival. The encoded receptor is important in development of the
            nervous system, and the development of organs and tissues derived
            from the neural crest. This proto-oncogene can undergo oncogenic
            activation through both cytogenetic rearrangement and activating
            point mutations. Mutations in this gene are associated with
            Hirschsprung disease and central hypoventilation syndrome and have
            been identified in patients with renal agenesis. [provided by
            RefSeq, Sep 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.1370744.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..815
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.21"
     Protein         1..815
                     /product="proto-oncogene tyrosine-protein kinase receptor
                     Ret isoform v precursor"
                     /EC_number="2.7.10.1"
                     /note="cadherin-related family member 16; RET receptor
                     tyrosine kinase; ret proto-oncogene (multiple endocrine
                     neoplasia and medullary thyroid carcinoma 1, Hirschsprung
                     disease); cadherin family member 12; proto-oncogene
                     tyrosine-protein kinase receptor Ret; proto-oncogene
                     c-Ret; rearranged during transfection"
                     /calculated_mol_wt=88715
     sig_peptide     1..28
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2775
     Region          29..154
                     /region_name="RET_CLD1"
                     /note="RET Cadherin like domain 1; pfam17756"
                     /db_xref="CDD:436016"
     Region          424..713
                     /region_name="PTKc_RET"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     REarranged during Transfection protein; cd05045"
                     /db_xref="CDD:173631"
     Site            order(431..435,439,457,459,505..506,508,512,575,579..580,
                     582,593,611..615,624,658)
                     /site_type="active"
                     /db_xref="CDD:173631"
     Site            order(431..434,439,457,459,505..506,508,512,582,593)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:173631"
     Site            order(575,579,611..615,624,658)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:173631"
     Site            592..617
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:173631"
     CDS             1..815
                     /gene="RET"
                     /gene_synonym="CDHF12; CDHR16; HSCR1; MEN2A; MEN2B; MTC1;
                     PTC; RET-ELE1"
                     /coded_by="NM_001406779.1:191..2638"
                     /note="isoform v precursor is encoded by transcript
                     variant 26"
                     /db_xref="GeneID:5979"
                     /db_xref="HGNC:HGNC:9967"
                     /db_xref="MIM:164761"
ORIGIN      
        1 makatsgaag lrlllllllp llgkvalgly fsrdaywekl yvdqaagtpl lyvhalrdap
       61 eevpsfrlgq hlygtyrtrl hennwiciqe dtgllylnrs ldhsswekls vrnrgfpllt
      121 vylkvflspt slregecqwp gcarvyfsff ntsfpacssl kprelcfpet rpsfrirenr
      181 ppgtfhqfrl lpvqflcpni svayrlledv aeeagcplsc avskrrlece ecgglgsptg
      241 rcewrqgdgk gitrnfstcs pstktcpdgh cdvvetqdin icpqdclrgs ivgghepgep
      301 rgikagygtc ncfpeeekcf cepediqdpl cdelcrtvia aavlfsfivs vllsafcihc
      361 yhkfahkppi ssaemtfrrp aqafpvsyss sgarrpslds menqvsvdaf kiledpkwef
      421 prknlvlgkt lgegefgkvv katafhlkgr agyttvavkm lkenaspsel rdllsefnvl
      481 kqvnhphvik lygacsqdgp llliveyaky gslrgflres rkvgpgylgs ggsrnsssld
      541 hpderaltmg dlisfawqis qgmqylaemk lvhrdlaarn ilvaegrkmk isdfglsrdv
      601 yeedsyvkrs qgripvkwma ieslfdhiyt tqsdvwsfgv llweivtlgg npypgipper
      661 lfnllktghr merpdncsee myrlmlqcwk qepdkrpvfa diskdlekmm vkrrdyldla
      721 astpsdsliy ddglseeetp lvdcnnaplp ralpstwien klygmsdpnw pgespvpltr
      781 adgtntgfpr ypndsvyanw mlspsaaklm dtfds
//
LOCUS       NP_001341936             230 aa            linear   PRI 26-MAR-2023
DEFINITION  nucleophosmin isoform 4 [Homo sapiens].
ACCESSION   NP_001341936 XP_011532866
VERSION     NP_001341936.1
DBSOURCE    REFSEQ: accession NM_001355007.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 230)
  AUTHORS   Wang Z, Pan B, Yao Y, Qiu J, Zhang X, Wu X and Tang N.
  TITLE     XPO1 intensifies sorafenib resistance by stabilizing acetylation of
            NPM1 and enhancing epithelial-mesenchymal transition in
            hepatocellular carcinoma
  JOURNAL   Biomed Pharmacother 160, 114402 (2023)
   PUBMED   36791564
  REMARK    GeneRIF: XPO1 intensifies sorafenib resistance by stabilizing
            acetylation of NPM1 and enhancing epithelial-mesenchymal transition
            in hepatocellular carcinoma.
REFERENCE   2  (residues 1 to 230)
  AUTHORS   Falini B, Martelli MP and Brunetti L.
  TITLE     Mutant NPM1: Nuclear export and the mechanism of leukemogenesis
  JOURNAL   Am J Hematol 98 (4), 550-552 (2023)
   PUBMED   36695655
  REMARK    GeneRIF: Mutant NPM1: Nuclear export and the mechanism of
            leukemogenesis.
REFERENCE   3  (residues 1 to 230)
  AUTHORS   Dillon LW, Gui G, Page KM, Ravindra N, Wong ZC, Andrew G, Mukherjee
            D, Zeger SL, El Chaer F, Spellman S, Howard A, Chen K, Auletta J,
            Devine SM, Jimenez Jimenez AM, De Lima MJG, Litzow MR, Kebriaei P,
            Saber W, Weisdorf DJ and Hourigan CS.
  TITLE     DNA Sequencing to Detect Residual Disease in Adults With Acute
            Myeloid Leukemia Prior to Hematopoietic Cell Transplant
  JOURNAL   JAMA 329 (9), 745-755 (2023)
   PUBMED   36881031
  REMARK    GeneRIF: DNA Sequencing to Detect Residual Disease in Adults With
            Acute Myeloid Leukemia Prior to Hematopoietic Cell Transplant.
REFERENCE   4  (residues 1 to 230)
  AUTHORS   D'Agostino M, Di Cecco M, Marani C, Vigili MG, Sileno S, Volpi CC,
            Gloghini A, Avitabile D, Magenta A and Rahimi S.
  TITLE     Positive Linear Relationship between Nucleophosmin Protein
            Expression and the Viral Load in HPV-Associated Oropharyngeal
            Squamous Cell Carcinoma: A Possible Tool for Stratification of
            Patients
  JOURNAL   Int J Mol Sci 24 (4), 3482 (2023)
   PUBMED   36834892
  REMARK    GeneRIF: Positive Linear Relationship between Nucleophosmin Protein
            Expression and the Viral Load in HPV-Associated Oropharyngeal
            Squamous Cell Carcinoma: A Possible Tool for Stratification of
            Patients.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 230)
  AUTHORS   Chin L, Wong CYG and Gill H.
  TITLE     Targeting and Monitoring Acute Myeloid Leukaemia with
            Nucleophosmin-1 (NPM1) Mutation
  JOURNAL   Int J Mol Sci 24 (4), 3161 (2023)
   PUBMED   36834572
  REMARK    GeneRIF: Targeting and Monitoring Acute Myeloid Leukaemia with
            Nucleophosmin-1 (NPM1) Mutation.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 230)
  AUTHORS   Fankhauser C, Izaurralde E, Adachi Y, Wingfield P and Laemmli UK.
  TITLE     Specific complex of human immunodeficiency virus type 1 rev and
            nucleolar B23 proteins: dissociation by the Rev response element
  JOURNAL   Mol Cell Biol 11 (5), 2567-2575 (1991)
   PUBMED   2017166
REFERENCE   7  (residues 1 to 230)
  AUTHORS   Venkatesh LK, Mohammed S and Chinnadurai G.
  TITLE     Functional domains of the HIV-1 rev gene required for
            trans-regulation and subcellular localization
  JOURNAL   Virology 176 (1), 39-47 (1990)
   PUBMED   2109912
REFERENCE   8  (residues 1 to 230)
  AUTHORS   Cochrane AW, Perkins A and Rosen CA.
  TITLE     Identification of sequences important in the nucleolar localization
            of human immunodeficiency virus Rev: relevance of nucleolar
            localization to function
  JOURNAL   J Virol 64 (2), 881-885 (1990)
   PUBMED   2404140
REFERENCE   9  (residues 1 to 230)
  AUTHORS   Zhang XX, Thomis DC and Samuel CE.
  TITLE     Isolation and characterization of a molecular cDNA clone of a human
            mRNA from interferon-treated cells encoding nucleolar protein B23,
            numatrin
  JOURNAL   Biochem Biophys Res Commun 164 (1), 176-184 (1989)
   PUBMED   2478125
REFERENCE   10 (residues 1 to 230)
  AUTHORS   Chan,P.K., Chan,W.Y., Yung,B.Y., Cook,R.G., Aldrich,M.B., Ku,D.,
            Goldknopf,I.L. and Busch,H.
  TITLE     Amino acid sequence of a specific antigenic peptide of protein B23
  JOURNAL   J Biol Chem 261 (30), 14335-14341 (1986)
   PUBMED   2429957
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091980.4 and AC093246.3.
            On Sep 2, 2017 this sequence version replaced XP_011532866.1.
            
            Summary: The protein encoded by this gene is involved in several
            cellular processes, including centrosome duplication, protein
            chaperoning, and cell proliferation. The encoded phosphoprotein
            shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning
            ribosomal proteins and core histones from the nucleus to the
            cytoplasm. This protein is also known to sequester the tumor
            suppressor ARF in the nucleolus, protecting it from degradation
            until it is needed. Mutations in this gene are associated with
            acute myeloid leukemia. Dozens of pseudogenes of this gene have
            been identified. [provided by RefSeq, Aug 2017].
            
            Transcript Variant: This variant (4) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (4) is
            shorter at the N-terminus compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189661.109748.1,
                                           SRR14038196.1691108.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..230
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     Protein         1..230
                     /product="nucleophosmin isoform 4"
                     /note="nucleophosmin/nucleoplasmin family, member 1;
                     nucleolar protein NO38; testicular tissue protein Li 128;
                     nucleophosmin (nucleolar phosphoprotein B23, numatrin)"
                     /calculated_mol_wt=25163
     Region          <1..53
                     /region_name="NPL"
                     /note="Nucleoplasmin-like domain; cl03870"
                     /db_xref="CDD:446209"
     Region          181..229
                     /region_name="NPM1-C"
                     /note="Nucleophosmin C-terminal domain; pfam16276"
                     /db_xref="CDD:435252"
     CDS             1..230
                     /gene="NPM1"
                     /gene_synonym="B23; NPM"
                     /coded_by="NM_001355007.2:213..905"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS93824.1"
                     /db_xref="GeneID:4869"
                     /db_xref="HGNC:HGNC:7910"
                     /db_xref="MIM:164040"
ORIGIN      
        1 mnyegspikv tlatlkmsvq ptvslggfei tppvvlrlkc gsgpvhisgq hlvaveedae
       61 sedeeeedvk llsisgkrsa pgggskvpqk kvklaadedd ddddeeddde ddddddfdde
      121 eaeekapvkk sirdtpakna qksnqngkds kpsstprskg qesfkkqekt pktpkgpssv
      181 edikakmqas iekggslpkv eakfinyvkn cfrmtdqeai qdlwqwrksl
//
LOCUS       NP_078930                702 aa            linear   PRI 29-MAR-2023
DEFINITION  polynucleotide 5'-hydroxyl-kinase NOL9 [Homo sapiens].
ACCESSION   NP_078930
VERSION     NP_078930.4
DBSOURCE    REFSEQ: accession NM_024654.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 702)
  AUTHORS   Gordon J, Pillon MC and Stanley RE.
  TITLE     Nol9 Is a Spatial Regulator for the Human ITS2 Pre-rRNA
            Endonuclease-Kinase Complex
  JOURNAL   J Mol Biol 431 (19), 3771-3786 (2019)
   PUBMED   31288032
  REMARK    GeneRIF: a Nol9-encoded nucleolar localization sequence that is
            responsible for nucleolar transport of the assembled Las1L-Nol9
            complex, is reported.
REFERENCE   2  (residues 1 to 702)
  AUTHORS   Yadav L, Tamene F, Goos H, van Drogen A, Katainen R, Aebersold R,
            Gstaiger M and Varjosalo M.
  TITLE     Systematic Analysis of Human Protein Phosphatase Interactions and
            Dynamics
  JOURNAL   Cell Syst 4 (4), 430-444 (2017)
   PUBMED   28330616
REFERENCE   3  (residues 1 to 702)
  AUTHORS   Bielczyk-Maczynska E, Lam Hung L, Ferreira L, Fleischmann T, Weis
            F, Fernandez-Pevida A, Harvey SA, Wali N, Warren AJ, Barroso I,
            Stemple DL and Cvejic A.
  TITLE     The Ribosome Biogenesis Protein Nol9 Is Essential for Definitive
            Hematopoiesis and Pancreas Morphogenesis in Zebrafish
  JOURNAL   PLoS Genet 11 (12), e1005677 (2015)
   PUBMED   26624285
  REMARK    GeneRIF: we present the nol9sa1022/sa1022 mutant, a novel zebrafish
            ribosomopathy model, which recapitulates key human disease
            characteristics.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 702)
  AUTHORS   Heindl K and Martinez J.
  TITLE     Nol9 is a novel polynucleotide 5'-kinase involved in ribosomal RNA
            processing
  JOURNAL   EMBO J 29 (24), 4161-4171 (2010)
   PUBMED   21063389
  REMARK    GeneRIF: The polynucleotide kinase activity of Nol9 is required for
            efficient generation of the 5.8S and 28S ribosomal RNAs from the
            32S precursor.
REFERENCE   5  (residues 1 to 702)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   6  (residues 1 to 702)
  AUTHORS   Scherl A, Coute Y, Deon C, Calle A, Kindbeiter K, Sanchez JC, Greco
            A, Hochstrasser D and Diaz JJ.
  TITLE     Functional proteomic analysis of human nucleolus
  JOURNAL   Mol Biol Cell 13 (11), 4100-4109 (2002)
   PUBMED   12429849
REFERENCE   7  (residues 1 to 702)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human RPE/choroid for the
            NEIBank Project: over 6000 non-redundant transcripts, novel genes
            and splice variants
  JOURNAL   Mol Vis 8, 205-220 (2002)
   PUBMED   12107410
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 702)
  AUTHORS   Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M and
            Lamond AI.
  TITLE     Directed proteomic analysis of the human nucleolus
  JOURNAL   Curr Biol 12 (1), 1-11 (2002)
   PUBMED   11790298
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL591866.13.
            On Nov 23, 2018 this sequence version replaced NP_078930.3.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK091284.1, SRR1660803.101026.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377705.6/ ENSP00000366934.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..702
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.31"
     Protein         1..702
                     /product="polynucleotide 5'-hydroxyl-kinase NOL9"
                     /EC_number="2.3.1.50"
                     /note="polynucleotide 5'-kinase"
                     /calculated_mol_wt=79192
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (Q5SY16.1)"
     Region          69..101
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SY16.1)"
     Region          306..>415
                     /region_name="CLP1_P"
                     /note="mRNA cleavage and polyadenylation factor CLP1
                     P-loop; pfam16575"
                     /db_xref="CDD:406878"
     Site            487
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5SY16.1)"
     Region          680..702
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SY16.1)"
     CDS             1..702
                     /gene="NOL9"
                     /gene_synonym="Grc3; NET6"
                     /coded_by="NM_024654.5:12..2120"
                     /db_xref="CCDS:CCDS80.1"
                     /db_xref="GeneID:79707"
                     /db_xref="HGNC:HGNC:26265"
                     /db_xref="MIM:620304"
ORIGIN      
        1 madsglllkr gscrstwlrv rkarpqlils rrprrrlgsl rwcgrrrlrw rllqaqasgv
       61 dwregarqvs raaaarrpnt atpspipspt pasepesepe lesasschrp llippvrpvg
      121 pgrallllpv eqgftfsgic rvtclygqvq vfgftisqgq paqdifsvyt hsclsihalh
      181 ysqpekskke lkrearnllk shlnlddrrw smqnfspqcs ivllehlkta tvnfitsypg
      241 ssyifvqesp tpqikpeyla lrsvgirrek krkglqltes tlsaleelvn vsceevdgcp
      301 vilvcgsqdv gkstfnryli nhllnslpcv dylecdlgqt eftppgcisl lnitepvlgp
      361 pfthlrtpqk mvyygkpsck nnyenyidiv kyvfsaykre splivntmgw vsdqglllli
      421 dlirllspsh vvqfrsdhsk ympdltpqyv ddmdglytks ktkmrnrrfr laafadalef
      481 adeekespve ftghkligvy tdfafritpr nreshnkilr dlsilsylsq lqppmpkpls
      541 plhsltpyqv pfnavalrit hsdvapthil yavnaswvgl ckiqddvrgy tngpillaqt
      601 picdclgfgi crgidmekrl yhiltpvppe elrtvncllv gaiaiphcvl kcqrgiegtv
      661 pyvttdynfk lpgasekiga repeeahkek pyrrpkfcrk mk
//
LOCUS       NP_001127902             242 aa            linear   PRI 17-APR-2022
DEFINITION  prosalusin isoform c precursor [Homo sapiens].
ACCESSION   NP_001127902
VERSION     NP_001127902.1
DBSOURCE    REFSEQ: accession NM_001134430.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 242)
  AUTHORS   Chen H and Jin G.
  TITLE     Downregulation of Salusin-beta protects renal tubular epithelial
            cells against high glucose-induced inflammation, oxidative stress,
            apoptosis and lipid accumulation via suppressing miR-155-5p
  JOURNAL   Bioengineered 12 (1), 6155-6165 (2021)
   PUBMED   34482798
  REMARK    GeneRIF: Downregulation of Salusin-beta protects renal tubular
            epithelial cells against high glucose-induced inflammation,
            oxidative stress, apoptosis and lipid accumulation via suppressing
            miR-155-5p.
REFERENCE   2  (residues 1 to 242)
  AUTHORS   Argun D, Argun F and Borku Uysal B.
  TITLE     Evaluation of salusin-alpha and salusin-beta levels in patients
            with type 2 diabetes mellitus and determination of the impact of
            severity of hyperglycemia on salusin levels
  JOURNAL   Ir J Med Sci 190 (4), 1403-1411 (2021)
   PUBMED   34109528
  REMARK    GeneRIF: Evaluation of salusin-alpha and salusin-beta levels in
            patients with type 2 diabetes mellitus and determination of the
            impact of severity of hyperglycemia on salusin levels.
REFERENCE   3  (residues 1 to 242)
  AUTHORS   Arkan A, Atukeren P, Ikitimur B, Simsek G, Koksal S, Gelisgen R,
            Ongen Z and Uzun H.
  TITLE     The importance of circulating levels of salusin-alpha,
            salusin-beta, and heregulin-beta1 in atherosclerotic coronary
            arterial disease
  JOURNAL   Clin Biochem 87, 19-25 (2021)
   PUBMED   33031820
  REMARK    GeneRIF: The importance of circulating levels of salusin-alpha,
            salusin-beta, and heregulin-beta1 in atherosclerotic coronary
            arterial disease.
REFERENCE   4  (residues 1 to 242)
  AUTHORS   Yassien M, Fawzy O, Mahmoud E and Khidr EG.
  TITLE     Serum salusin-beta in relation to atherosclerosis and ventricular
            dysfunction in patients with type 2 diabetes mellitus
  JOURNAL   Diabetes Metab Syndr 14 (6), 2057-2062 (2020)
   PUBMED   33113473
  REMARK    GeneRIF: Serum salusin-beta in relation to atherosclerosis and
            ventricular dysfunction in patients with type 2 diabetes mellitus.
REFERENCE   5  (residues 1 to 242)
  AUTHORS   Kimura M, Shindo M, Moriizumi T, Tagawa N, Fujinami A, Kato I and
            Uchida Y.
  TITLE     Salusin-beta, an antimicrobially active peptide against
            Gram-positive bacteria
  JOURNAL   Chem Pharm Bull (Tokyo) 62 (6), 586-590 (2014)
   PUBMED   24881665
  REMARK    GeneRIF: Salusin-beta is an antimicrobial peptide with potent
            antibacterial activity against Gram-positive microorganisms.
REFERENCE   6  (residues 1 to 242)
  AUTHORS   Wang Z, Takahashi T, Saito Y, Nagasaki H, Ly NK, Nothacker HP,
            Reinscheid RK, Yang J, Chang JK, Shichiri M and Civelli O.
  TITLE     Salusin beta is a surrogate ligand of the mas-like G
            protein-coupled receptor MrgA1
  JOURNAL   Eur J Pharmacol 539 (3), 145-150 (2006)
   PUBMED   16697365
  REMARK    GeneRIF: Human salusin beta is a surrogate ligand of mouse MrgA1.
REFERENCE   7  (residues 1 to 242)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   8  (residues 1 to 242)
  AUTHORS   Shichiri M, Ishimaru S, Ota T, Nishikawa T, Isogai T and Hirata Y.
  TITLE     Salusins: newly identified bioactive peptides with hemodynamic and
            mitogenic activities
  JOURNAL   Nat Med 9 (9), 1166-1172 (2003)
   PUBMED   12910263
  REMARK    GeneRIF: the identification and characterization of two related
            peptides of 28 and 20 amino acids, which we designated
            salusin-alpha and salusin-beta. Salusins are translated from an
            alternatively spliced mRNA of TOR2A
REFERENCE   9  (residues 1 to 242)
  AUTHORS   Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish
            C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP and
            Breakefield XO.
  TITLE     The TOR1A (DYT1) gene family and its role in early onset torsion
            dystonia
  JOURNAL   Genomics 62 (3), 377-384 (1999)
   PUBMED   10644435
REFERENCE   10 (residues 1 to 242)
  AUTHORS   Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C,
            de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler
            AJ, Gusella JF and Breakefield XO.
  TITLE     The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding
            protein
  JOURNAL   Nat Genet 17 (1), 40-48 (1997)
   PUBMED   9288096
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN263138.1, AK075520.1 and
            AY358180.1.
            
            Summary: This gene encodes a member of the AAA family of adenosine
            triphosphatases with similarity to Clp proteases and heat shock
            proteins. Alternative splicing at this locus results in the
            translation of multiple isoforms of the encoded protein, some of
            which contain salusin peptides in the C-terminal region. These
            peptides may play roles in hypotension, myocardial growth and the
            induction of mitogenesis, and may also be involved in the
            pathogenesis of atherosclerosis. The antimicrobial peptide
            salusin-beta has antibacterial activity. [provided by RefSeq, Nov
            2014].
            
            Transcript Variant: This variant (3) lacks an exon in the 3' coding
            region, which results in a frameshift, compared to variant 1. The
            encoded isoform (c) is shorter and has a distinct C-terminus,
            compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK075520.1, SRR3476690.10398.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            Protein has antimicrobial activity :: PMID: 24881665
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     Protein         1..242
                     /product="prosalusin isoform c precursor"
                     /note="prosalusin; torsin-2A; torsin-related protein 1;
                     salusin-beta"
                     /calculated_mol_wt=23766
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2514
     proprotein      27..242
                     /product="prosalusin isoform c proprotein"
                     /calculated_mol_wt=23766
     mat_peptide     27..242
                     /product="Prosalusin"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /calculated_mol_wt=23766
     Region          42..160
                     /region_name="Torsin"
                     /note="pfam06309"
                     /db_xref="CDD:399367"
     mat_peptide     192..211
                     /product="Salusin-beta"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     24881665]"
                     /calculated_mol_wt=2343
     mat_peptide     214..241
                     /product="Salusin-alpha"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /calculated_mol_wt=2604
     CDS             1..242
                     /gene="TOR2A"
                     /gene_synonym="TORP1"
                     /coded_by="NM_001134430.3:25..753"
                     /note="isoform c precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS48024.1"
                     /db_xref="GeneID:27433"
                     /db_xref="HGNC:HGNC:11996"
                     /db_xref="MIM:608052"
ORIGIN      
        1 maaatrgcrp wgsllgllgl vsaaaaawdl aslrctlgaf cecdfrpdlp glecdlaqhl
       61 agqhlakalv vkalkafvrd paptkplvls lhgwtgtgks yvssllahyl fqgglrsprv
      121 hhfspvlhfp hpshierykk dlkswvqgnl tacgrslflf demdkmppgl mevlrpflgs
      181 swvvygtnyr kaififirwl lklghhgrap prrsgalppa paaprpalra qragpagpga
      241 kg
//
LOCUS       NP_001277118             322 aa            linear   PRI 17-DEC-2022
DEFINITION  myeloid-associated differentiation marker [Homo sapiens].
ACCESSION   NP_001277118
VERSION     NP_001277118.1
DBSOURCE    REFSEQ: accession NM_001290189.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 322)
  AUTHORS   Dy ABC, Langlais PR, Barker NK, Addison KJ, Tanyaratsrisakul S,
            Boitano S, Christenson SA, Kraft M, Meyers D, Bleecker ER, Li X and
            Ledford JG.
  TITLE     Myeloid-associated differentiation marker is a novel
            SP-A-associated transmembrane protein whose expression on airway
            epithelial cells correlates with asthma severity
  JOURNAL   Sci Rep 11 (1), 23392 (2021)
   PUBMED   34862427
  REMARK    GeneRIF: Myeloid-associated differentiation marker is a novel
            SP-A-associated transmembrane protein whose expression on airway
            epithelial cells correlates with asthma severity.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 322)
  AUTHORS   Sun L, Lin P, Chen Y, Yu H, Ren S, Wang J, Zhao L and Du G.
  TITLE     miR-182-3p/Myadm contribute to pulmonary artery hypertension
            vascular remodeling via a KLF4/p21-dependent mechanism
  JOURNAL   Theranostics 10 (12), 5581-5599 (2020)
   PUBMED   32373233
  REMARK    GeneRIF: miR-182-3p/Myadm contribute to pulmonary artery
            hypertension vascular remodeling via a KLF4/p21-dependent
            mechanism.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 322)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 322)
  AUTHORS   Zeller T, Schurmann C, Schramm K, Muller C, Kwon S, Wild PS, Teumer
            A, Herrington D, Schillert A, Iacoviello L, Kratzer A, Jagodzinski
            A, Karakas M, Ding J, Neumann JT, Kuulasmaa K, Gieger C, Kacprowski
            T, Schnabel RB, Roden M, Wahl S, Rotter JI, Ojeda F,
            Carstensen-Kirberg M, Tregouet DA, Dorr M, Meitinger T, Lackner KJ,
            Wolf P, Felix SB, Landmesser U, Costanzo S, Ziegler A, Liu Y,
            Volker U, Palmas W, Prokisch H, Guo X, Herder C, Blankenberg S and
            Homuth G.
  TITLE     Transcriptome-Wide Analysis Identifies Novel Associations With
            Blood Pressure
  JOURNAL   Hypertension 70 (4), 743-750 (2017)
   PUBMED   28784648
  REMARK    GeneRIF: MYADM gene expression is significantly associated with
            long-term changes in Blood Pressure, providing a link between gene
            expression and Blood Pressure.
REFERENCE   5  (residues 1 to 322)
  AUTHORS   Aranda JF, Reglero-Real N, Marcos-Ramiro B, Ruiz-Saenz A,
            Fernandez-Martin L, Bernabe-Rubio M, Kremer L, Ridley AJ, Correas
            I, Alonso MA and Millan J.
  TITLE     MYADM controls endothelial barrier function through ERM-dependent
            regulation of ICAM-1 expression
  JOURNAL   Mol Biol Cell 24 (4), 483-494 (2013)
   PUBMED   23264465
  REMARK    GeneRIF: MYADM controls endothelial barrier function through
            ERM-dependent regulation of ICAM-1 expression.
REFERENCE   6  (residues 1 to 322)
  AUTHORS   Aranda JF, Reglero-Real N, Kremer L, Marcos-Ramiro B, Ruiz-Saenz A,
            Calvo M, Enrich C, Correas I, Millan J and Alonso MA.
  TITLE     MYADM regulates Rac1 targeting to ordered membranes required for
            cell spreading and migration
  JOURNAL   Mol Biol Cell 22 (8), 1252-1262 (2011)
   PUBMED   21325632
  REMARK    GeneRIF: Myeloid-associated differentiation marker (MYADM)
            regulates Rac1 targeting to ordered membranes required for cell
            spreading and migration.
REFERENCE   7  (residues 1 to 322)
  AUTHORS   Wang Q, Li N, Wang X, Shen J, Hong X, Yu H, Zhang Y, Wan T, Zhang
            L, Wang J and Cao X.
  TITLE     Membrane protein hMYADM preferentially expressed in myeloid cells
            is up-regulated during differentiation of stem cells and myeloid
            leukemia cells
  JOURNAL   Life Sci 80 (5), 420-429 (2007)
   PUBMED   17097684
REFERENCE   8  (residues 1 to 322)
  AUTHORS   de Wit NJ, Rijntjes J, Diepstra JH, van Kuppevelt TH, Weidle UH,
            Ruiter DJ and van Muijen GN.
  TITLE     Analysis of differential gene expression in human melanocytic
            tumour lesions by custom made oligonucleotide arrays
  JOURNAL   Br J Cancer 92 (12), 2249-2261 (2005)
   PUBMED   15900300
REFERENCE   9  (residues 1 to 322)
  AUTHORS   Cui W, Yu L, He H, Chu Y, Gao J, Wan B, Tang L and Zhao S.
  TITLE     Cloning of human myeloid-associated differentiation marker (MYADM)
            gene whose expression was up-regulated in NB4 cells induced by
            all-trans retinoic acid
  JOURNAL   Mol Biol Rep 28 (3), 123-138 (2001)
   PUBMED   12075932
  REMARK    GeneRIF: Cloning and characterization of human MYADM gene whose
            expression was up-regulated in NB4 cells induced by all-trans
            retinoic acid.
REFERENCE   10 (residues 1 to 322)
  AUTHORS   Pettersson M, Dannaeus K, Nilsson K and Jonsson JI.
  TITLE     Isolation of MYADM, a novel hematopoietic-associated marker gene
            expressed in multipotent progenitor cells and up-regulated during
            myeloid differentiation
  JOURNAL   J Leukoc Biol 67 (3), 423-431 (2000)
   PUBMED   10733104
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY124929.1, DB448983.1, AC008440.9 and AF087882.1.
            
            Transcript Variant: This variant (6) represents the longest
            transcript. All twelve variants encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DB448983.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146982, SAMEA2158569
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..322
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..322
                     /product="myeloid-associated differentiation marker"
                     /note="myeloid upregulated protein"
                     /calculated_mol_wt=35143
     Region          1..21
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S97.2)"
     Site            22
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96S97.2)"
     Site            41..61
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S97.2)"
     Region          45..152
                     /region_name="MARVEL"
                     /note="Membrane-associating domain; pfam01284"
                     /db_xref="CDD:366555"
     Site            70..90
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S97.2)"
     Site            101..121
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S97.2)"
     Site            137..157
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S97.2)"
     Region          168..312
                     /region_name="MARVEL"
                     /note="Membrane-associating domain; pfam01284"
                     /db_xref="CDD:366555"
     Site            171..191
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S97.2)"
     Site            203..223
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S97.2)"
     Site            239..259
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S97.2)"
     Site            294..314
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S97.2)"
     CDS             1..322
                     /gene="MYADM"
                     /gene_synonym="SB135"
                     /coded_by="NM_001290189.1:682..1650"
                     /db_xref="CCDS:CCDS12866.1"
                     /db_xref="GeneID:91663"
                     /db_xref="HGNC:HGNC:7544"
                     /db_xref="MIM:609959"
ORIGIN      
        1 mpvtvtrtti tttttsssgl gspmivgspr altqplgllr llqlvstcva fslvasvgaw
       61 tgsmgnwsmf twcfcfsvtl iilivelcgl qarfplswrn fpitfacyaa lfclsasiiy
      121 pttyvqflsh grsrdhaiaa tffsciacva yatevawtra rpgeitgyma tvpgllkvle
      181 tfvaciifaf isdpnlyqhq palewcvavy aicfilaaia illnlgectn vlpipfpsfl
      241 sglallsvll yatalvlwpl yqfdekyggq prrsrdvscs rshayyvcaw drrlavailt
      301 ainllayvad lvhsahlvfv kv
//
LOCUS       NP_001334893             643 aa            linear   PRI 17-DEC-2022
DEFINITION  ecto-NOX disulfide-thiol exchanger 1 isoform b [Homo sapiens].
ACCESSION   NP_001334893 XP_011533430
VERSION     NP_001334893.1
DBSOURCE    REFSEQ: accession NM_001347964.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 643)
  AUTHORS   Zhang R, Ji Z, Cai J, Li Y and Ma G.
  TITLE     Clinical Significance of Serum Kallistatin and ENOX1 Levels in
            Patients with Coronary Heart Disease
  JOURNAL   Med Princ Pract 30 (4), 339-346 (2021)
   PUBMED   32712615
  REMARK    GeneRIF: Clinical Significance of Serum Kallistatin and ENOX1
            Levels in Patients with Coronary Heart Disease.
REFERENCE   2  (residues 1 to 643)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 643)
  AUTHORS   Wang JL, Tong CW, Chang WT and Huang AM.
  TITLE     Novel genes FAM134C, C3orf10 and ENOX1 are regulated by NRF-1 and
            differentially regulate neurite outgrowth in neuroblastoma cells
            and hippocampal neurons
  JOURNAL   Gene 529 (1), 7-15 (2013)
   PUBMED   23939472
  REMARK    GeneRIF: We verified that NRF-1 positively regulates FAM134C and
            ENOX1, and negatively regulates C3orf10 in human neuroblastoma
            IMR-32 cells and primary rat cortical neurons.
REFERENCE   4  (residues 1 to 643)
  AUTHORS   Wang J, Bansal AT, Martin M, Germer S, Benayed R, Essioux L, Lee
            JS, Begovich A, Hemmings A, Kenwright A, Taylor KE, Upmanyu R,
            Cutler P, Harari O, Marchini J, Criswell LA and Platt A.
  TITLE     Genome-wide association analysis implicates the involvement of
            eight loci with response to tocilizumab for the treatment of
            rheumatoid arthritis
  JOURNAL   Pharmacogenomics J 13 (3), 235-241 (2013)
   PUBMED   22491018
REFERENCE   5  (residues 1 to 643)
  CONSRTM   GENDEP Investigators; MARS Investigators; STAR*D Investigators
  TITLE     Common genetic variation and antidepressant efficacy in major
            depressive disorder: a meta-analysis of three genome-wide
            pharmacogenetic studies
  JOURNAL   Am J Psychiatry 170 (2), 207-217 (2013)
   PUBMED   23377640
REFERENCE   6  (residues 1 to 643)
  AUTHORS   Williams FM, Carter AM, Hysi PG, Surdulescu G, Hodgkiss D, Soranzo
            N, Traylor M, Bevan S, Dichgans M, Rothwell PM, Sudlow C, Farrall
            M, Silander K, Kaunisto M, Wagner P, Saarela O, Kuulasmaa K,
            Virtamo J, Salomaa V, Amouyel P, Arveiler D, Ferrieres J, Wiklund
            PG, Ikram MA, Hofman A, Boncoraglio GB, Parati EA, Helgadottir A,
            Gretarsdottir S, Thorsteinsdottir U, Thorleifsson G, Stefansson K,
            Seshadri S, DeStefano A, Gschwendtner A, Psaty B, Longstreth W,
            Mitchell BD, Cheng YC, Clarke R, Ferrario M, Bis JC, Levi C, Attia
            J, Holliday EG, Scott RJ, Fornage M, Sharma P, Furie KL, Rosand J,
            Nalls M, Meschia J, Mosely TH, Evans A, Palotie A, Markus HS, Grant
            PJ and Spector TD.
  CONSRTM   EuroCLOT Investigators; Wellcome Trust Case Control Consortium 2;
            MOnica Risk, Genetics, Archiving and Monograph; MetaStroke;
            International Stroke Genetics Consortium
  TITLE     Ischemic stroke is associated with the ABO locus: the EuroCLOT
            study
  JOURNAL   Ann Neurol 73 (1), 16-31 (2013)
   PUBMED   23381943
  REMARK    Erratum:[Ann Neurol. 2014 Jan;75(1):166-7]
REFERENCE   7  (residues 1 to 643)
  AUTHORS   Landoure G, Knight MA, Stanescu H, Taye AA, Shi Y, Diallo O,
            Johnson JO, Hernandez D, Traynor BJ, Biesecker LG, Elkahloun A,
            Rinaldi C, Vincent A, Willcox N, Kleta R, Fischbeck KH and Burnett
            BG.
  CONSRTM   NIH Intramural Sequencing Center
  TITLE     A candidate gene for autoimmune myasthenia gravis
  JOURNAL   Neurology 79 (4), 342-347 (2012)
   PUBMED   22744667
  REMARK    GeneRIF: These results indicate that this sequence variant in ENOX1
            may contribute to the familial autoimmune myasthenia in these
            patients.
REFERENCE   8  (residues 1 to 643)
  AUTHORS   Jiang Z, Gorenstein NM, Morre DM and Morre DJ.
  TITLE     Molecular cloning and characterization of a candidate human
            growth-related and time-keeping constitutive cell surface
            hydroquinone (NADH) oxidase
  JOURNAL   Biochemistry 47 (52), 14028-14038 (2008)
   PUBMED   19055324
  REMARK    GeneRIF: copper-binding capacity, enzymatic activity, and
            time-keeping (clock) properties
REFERENCE   9  (residues 1 to 643)
  AUTHORS   Scarlett DJ, Herst PM and Berridge MV.
  TITLE     Multiple proteins with single activities or a single protein with
            multiple activities: the conundrum of cell surface NADH
            oxidoreductases
  JOURNAL   Biochim Biophys Acta 1708 (1), 108-119 (2005)
   PUBMED   15882838
REFERENCE   10 (residues 1 to 643)
  AUTHORS   Sedlak D, Moore DM and Moore DJ.
  TITLE     A drug-unresponsive and protease-resistant CNOX protein from human
            sera
  JOURNAL   Arch Biochem Biophys 386 (1), 106-116 (2001)
   PUBMED   11360993
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162713.19, AL161714.8,
            AL136959.9, AL138823.14, AL607148.8 and AL627430.4.
            On Dec 24, 2016 this sequence version replaced XP_011533430.1.
            
            Summary: The protein encoded by this gene is involved in plasma
            membrane electron transport pathways. The encoded protein has both
            a hydroquinone (NADH) oxidase activity and a protein
            disulfide-thiol interchange activity. The two activities cycle with
            a periodicity of 24 minutes, with one activity being at its peak
            when the other is at its lowest. [provided by RefSeq, Dec 2016].
            
            Transcript Variant: This variant (4) differs in the 5' UTR and
            coding sequence compared to variant 10. The resulting isoform (b)
            is shorter at the N-terminus compared to isoform a. Variants 1-9
            all encode the same isoform (b).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.126064.1,
                                           SRR14038196.2184334.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..643
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     Protein         1..643
                     /product="ecto-NOX disulfide-thiol exchanger 1 isoform b"
                     /note="candidate growth-related and time keeping
                     constitutive hydroquinone (NADH) oxidase; constitutive
                     Ecto-NOX; cell proliferation-inducing gene 38 protein;
                     candidate growth-related and time keeping constitutive
                     hydroquinone [NADH] oxidase; ecto-NADPH oxidase
                     disulfide-thiol exchanger 1"
                     /calculated_mol_wt=73218
     Region          136..219
                     /region_name="RRM_ENOX"
                     /note="RNA recognition motif (RRM) found in the cell
                     surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or
                     ENOX) proteins; cd12228"
                     /db_xref="CDD:409675"
     Region          235..>582
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..643
                     /gene="ENOX1"
                     /gene_synonym="bA64J21.1; cCNOX; CNOX; PIG38"
                     /coded_by="NM_001347964.2:665..2596"
                     /note="isoform b is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS9389.1"
                     /db_xref="GeneID:55068"
                     /db_xref="HGNC:HGNC:25474"
                     /db_xref="MIM:610914"
ORIGIN      
        1 mvdaggveni tqlpqelpqm maaaadglgs iaidttqlnm svtdptawat amnnlgmvpv
       61 glpgqqlvsd sicvpgfdps lnmmtgitpi npmipglglv ppppptevav vkeiihcksc
      121 tlfpqnpnlp ppstrerppg cktvfvgglp enateeiiqe vfeqcgdita irkskknfch
      181 irfaeefmvd kaiylsgyrm rlgsstdkkd sgrlhvdfaq arddfyewec kqrmrareer
      241 hrrkleedrl rppsppaimh yseheaalla eklkddskfs eaitvllswi ergevnrrsa
      301 nqfysmvqsa nshvrrlmne katheqemee akenfknalt giltqfeqiv avfnastrqk
      361 awdhfskaqr knidiwrkhs eelrnaqseq lmgirreeem emsddencds ptkkmrvdes
      421 alaaqayalk eendslrwql dayrnevell kqekeqlfrt eenltkdqql qflqqtmqgm
      481 qqqlltiqee lnnkkseleq akeeqshtqa llkvlqeqlk gtkelvetng hshedsnein
      541 vltvalvnqd renniekrsq glksekeall igiistflhv hpfganieyl wsymqqldsk
      601 isaneiemll mrlprmfkqe ftgvgatlek rwklcafegi ktt
//
LOCUS       NP_001308462             763 aa            linear   PRI 18-DEC-2022
DEFINITION  SUMO-specific isopeptidase USPL1 isoform 3 [Homo sapiens].
ACCESSION   NP_001308462
VERSION     NP_001308462.1
DBSOURCE    REFSEQ: accession NM_001321533.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 763)
  AUTHORS   Hutten S, Chachami G, Winter U, Melchior F and Lamond AI.
  TITLE     A role for the Cajal-body-associated SUMO isopeptidase USPL1 in
            snRNA transcription mediated by RNA polymerase II
  JOURNAL   J Cell Sci 127 (Pt 5), 1065-1078 (2014)
   PUBMED   24413172
  REMARK    GeneRIF: USPL1 plays a key role in RNAPII-mediated snRNA
            transcription.
REFERENCE   2  (residues 1 to 763)
  AUTHORS   Bermejo JL, Kabisch M, Dunnebier T, Schnaidt S, Melchior F, Fischer
            HP, Harth V, Rabstein S, Pesch B, Bruning T, Justenhoven C, Brauch
            H, Baisch C, Ko YD and Hamann U.
  TITLE     Exploring the association between genetic variation in the SUMO
            isopeptidase gene USPL1 and breast cancer through integration of
            data from the population-based GENICA study and external genetic
            databases
  JOURNAL   Int J Cancer 133 (2), 362-372 (2013)
   PUBMED   23338788
  REMARK    GeneRIF: genetic variability in USPL1 may have a role in breast
            cancer, especially in rs7984952
REFERENCE   3  (residues 1 to 763)
  AUTHORS   Schulz S, Chachami G, Kozaczkiewicz L, Winter U, Stankovic-Valentin
            N, Haas P, Hofmann K, Urlaub H, Ovaa H, Wittbrodt J, Meulmeester E
            and Melchior F.
  TITLE     Ubiquitin-specific protease-like 1 (USPL1) is a SUMO isopeptidase
            with essential, non-catalytic functions
  JOURNAL   EMBO Rep 13 (10), 930-938 (2012)
   PUBMED   22878415
REFERENCE   4  (residues 1 to 763)
  AUTHORS   Bohm D, Keller K, Pieter J, Boehm N, Wolters D, Siggelkow W,
            Lebrecht A, Schmidt M, Kolbl H, Pfeiffer N and Grus FH.
  TITLE     Comparison of tear protein levels in breast cancer patients and
            healthy controls using a de novo proteomic approach
  JOURNAL   Oncol Rep 28 (2), 429-438 (2012)
   PUBMED   22664934
REFERENCE   5  (residues 1 to 763)
  AUTHORS   Wang J, Huo K, Ma L, Tang L, Li D, Huang X, Yuan Y, Li C, Wang W,
            Guan W, Chen H, Jin C, Wei J, Zhang W, Yang Y, Liu Q, Zhou Y, Zhang
            C, Wu Z, Xu W, Zhang Y, Liu T, Yu D, Zhang Y, Chen L, Zhu D, Zhong
            X, Kang L, Gan X, Yu X, Ma Q, Yan J, Zhou L, Liu Z, Zhu Y, Zhou T,
            He F and Yang X.
  TITLE     Toward an understanding of the protein interaction network of the
            human liver
  JOURNAL   Mol Syst Biol 7, 536 (2011)
   PUBMED   21988832
  REMARK    Erratum:[Mol Syst Biol. 2017 Dec 18;13(12 ):965. PMID: 29254952]
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB288223.1, CR627370.1 and AL138681.17.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.243774.1, CR627370.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..763
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.3"
     Protein         1..763
                     /product="SUMO-specific isopeptidase USPL1 isoform 3"
                     /note="highly charged protein; ubiquitin-specific
                     peptidase-like protein 1; SUMO-specific isopeptidase
                     USPL1; USP-like 1"
                     /calculated_mol_wt=83963
     Region          <1..169
                     /region_name="Peptidase_C98"
                     /note="Ubiquitin-specific peptidase-like, SUMO
                     isopeptidase; pfam15499"
                     /db_xref="CDD:434759"
     Region          243..761
                     /region_name="DUF4650"
                     /note="Domain of unknown function (DUF4650); pfam15509"
                     /db_xref="CDD:434766"
     CDS             1..763
                     /gene="USPL1"
                     /gene_synonym="bA121O19.1; C13orf22; D13S106E"
                     /coded_by="NM_001321533.2:386..2677"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS81760.1"
                     /db_xref="GeneID:10208"
                     /db_xref="HGNC:HGNC:20294"
                     /db_xref="MIM:617470"
ORIGIN      
        1 mespvfafpl llklethiek lflysfswdf ecsqcghqyq nrhmkslvtf tnvipewhpl
       61 naahfgpcnn cnsksqirkm vlekvspifm lhfveglpqn dlqhyafhfe gclyqitsvi
      121 qyrannhfit wildadgswl ecddlkgpcs erhkkfevpa seihiviwer kisqvtdkea
      181 aclplkktnd qhalsnekpv sltscsvgda asaetasvth pkdisvaprt lsqdtavthg
      241 dhllsgpkgl vdnilpltle etiqktasvs qlnseaflle nkpvaentgi lktntllsqe
      301 slmassvsap cnekliqdqf vdisfpsqvv ntnmqsvqln tedtvntksv nntdatgliq
      361 gvksveiekd aqlkqfltpk teqlkpervt sqvsnlkkke ttadsqttts kslqnqslke
      421 nqkkpfvgsw vkglisrgas fmplcvsahn rntitdlqps vkgvnnfggf ktkginqkas
      481 hvskkarksa skpppiskpp agppssngta ahphahaase vleksgstsc gaqlnhssyg
      541 ngissanhed lvegqihklr lklrkklkae kkklaalmss pqsrtvrsen leqvpqdgsp
      601 ndcesiedll nelpypidia sesacttvpg vslyssqthe eilaellspt pvstelseng
      661 egdfrylgmg dshipppvps efndvsqnth lrqdhnycsp tkknpcevqp dsltnnacvr
      721 tlnlespmkt difdeffsss alnalandtl dlphfdeylf eny
//
LOCUS       NP_115894                601 aa            linear   PRI 24-DEC-2022
DEFINITION  kelch repeat and BTB domain-containing protein 8 [Homo sapiens].
ACCESSION   NP_115894
VERSION     NP_115894.2
DBSOURCE    REFSEQ: accession NM_032505.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 601)
  AUTHORS   Du L, Li CR, He QF, Li XH, Yang LF, Zou Y, Yang ZX, Zhang D and
            Xing XW.
  TITLE     Downregulation of the ubiquitin ligase KBTBD8 prevented epithelial
            ovarian cancer progression
  JOURNAL   Mol Med 26 (1), 96 (2020)
   PUBMED   33109073
  REMARK    GeneRIF: Downregulation of the ubiquitin ligase KBTBD8 prevented
            epithelial ovarian cancer progression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 601)
  AUTHORS   Werner A, Baur R, Teerikorpi N, Kaya DU and Rape M.
  TITLE     Multisite dependency of an E3 ligase controls
            monoubiquitylation-dependent cell fate decisions
  JOURNAL   Elife 7, e35407 (2018)
   PUBMED   29999490
  REMARK    GeneRIF: The authors found that CUL3 complexed with KBTBD8
            monoubiquitylates its essential targets only after these have been
            phosphorylated in multiple motifs by CK2, a kinase whose levels
            gradually increase during embryogenesis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 601)
  AUTHORS   Werner A, Iwasaki S, McGourty CA, Medina-Ruiz S, Teerikorpi N,
            Fedrigo I, Ingolia NT and Rape M.
  TITLE     Cell-fate determination by ubiquitin-dependent regulation of
            translation
  JOURNAL   Nature 525 (7570), 523-527 (2015)
   PUBMED   26399832
REFERENCE   4  (residues 1 to 601)
  AUTHORS   Okada Y, Sim X, Go MJ, Wu JY, Gu D, Takeuchi F, Takahashi A, Maeda
            S, Tsunoda T, Chen P, Lim SC, Wong TY, Liu J, Young TL, Aung T,
            Seielstad M, Teo YY, Kim YJ, Lee JY, Han BG, Kang D, Chen CH, Tsai
            FJ, Chang LC, Fann SJ, Mei H, Rao DC, Hixson JE, Chen S, Katsuya T,
            Isono M, Ogihara T, Chambers JC, Zhang W, Kooner JS, Albrecht E,
            Yamamoto K, Kubo M, Nakamura Y, Kamatani N, Kato N, He J, Chen YT,
            Cho YS, Tai ES and Tanaka T.
  CONSRTM   KidneyGen Consortium; CKDGen Consortium; GUGC consortium
  TITLE     Meta-analysis identifies multiple loci associated with kidney
            function-related traits in east Asian populations
  JOURNAL   Nat Genet 44 (8), 904-909 (2012)
   PUBMED   22797727
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 601)
  AUTHORS   Kim JJ, Lee HI, Park T, Kim K, Lee JE, Cho NH, Shin C, Cho YS, Lee
            JY, Han BG, Yoo HW and Lee JK.
  TITLE     Identification of 15 loci influencing height in a Korean population
  JOURNAL   J Hum Genet 55 (1), 27-31 (2010)
   PUBMED   19893584
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB065239.1, DA246470.1, AK096640.1 and AF385438.1.
            On Apr 25, 2009 this sequence version replaced NP_115894.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK096640.1, SRR1660809.41681.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000417314.2/ ENSP00000401878.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..601
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.1"
     Protein         1..601
                     /product="kelch repeat and BTB domain-containing protein
                     8"
                     /note="T-cell activation kelch repeat protein; kelch
                     repeat and BTB (POZ) domain containing 8"
                     /calculated_mol_wt=68692
     Region          1..25
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFY9.2)"
     Region          27..155
                     /region_name="BTB_POZ_KBTBD8"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in Kelch repeat
                     and BTB domain-containing protein 8 (KBTBD8); cd18274"
                     /db_xref="CDD:349583"
     Region          50..516
                     /region_name="PHA03098"
                     /note="kelch-like protein; Provisional"
                     /db_xref="CDD:222983"
     Region          147..243
                     /region_name="BACK"
                     /note="BACK (BTB and C-terminal Kelch) domain; cl28903"
                     /db_xref="CDD:452892"
     Region          330..376
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          336..390
                     /region_name="Kelch 1. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFY9.2)"
     Region          380..428
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          391..441
                     /region_name="Kelch 2. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFY9.2)"
     Region          431..467
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          443..481
                     /region_name="Kelch 3. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFY9.2)"
     Region          483..532
                     /region_name="Kelch 4. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFY9.2)"
     Region          519..571
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          542..588
                     /region_name="Kelch 5. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFY9.2)"
     CDS             1..601
                     /gene="KBTBD8"
                     /gene_synonym="TA-KRP; TAKRP"
                     /coded_by="NM_032505.3:50..1855"
                     /db_xref="CCDS:CCDS2906.2"
                     /db_xref="GeneID:84541"
                     /db_xref="HGNC:HGNC:30691"
                     /db_xref="MIM:616607"
ORIGIN      
        1 maasadlsks sptpngipss dpasdamdpf hacsilkqlk tmydegqltd ivvevdhgkt
       61 fschrnvlaa ispyfrsmft sgltestqke vrivgveaes mdlvlnyayt srvilteanv
      121 qalftaasif qipsiqdqca kymishldpq nsigvfifad hyghqelgdr skeyirkkfl
      181 cvtkeqeflq ltkdqlisil dsddlnvdre ehvyesiirw feheqnerev hlpeifakci
      241 rfplmedtfi ekippqfaqa iakscvekgp sntngctqrl gmtasemiic fdaahkhsgk
      301 kqtvpcldiv tgrvfklckp pndlrevgil vspdndiyia ggyrpsssev sidhkaendf
      361 wmydhstnrw lskpsllrar igcklvyccg kmyaiggrvy egdgrnslks vecydsrenc
      421 wttvcampva mefhnaveyk ekiyvlqgef flfyepqkdy wgfltpmtvp riqglaavyk
      481 dsiyyiagtc gnhqrmftve aydielnkwt rkkdfpcdqs inpylklvlf qnklhlfvra
      541 tqvtveehvf rtsrknslyq yddiadqwmk vyetpdrlwd lgrhfecava klypqclqkv
      601 l
//
LOCUS       NP_001356413             230 aa            linear   PRI 25-DEC-2022
DEFINITION  protein LSM12 isoform 1 [Homo sapiens].
ACCESSION   NP_001356413
VERSION     NP_001356413.1
DBSOURCE    REFSEQ: accession NM_001369484.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 230)
  AUTHORS   Dong Y, Xue L, Zhang Y, Liu C, Zhang Y, Jiang N, Ma X, Chen F, Li
            L, Yu L, Liu X, Shao S, Guan S, Zhang J, Xiao Q, Li H, Dong A,
            Huang L, Shi C, Wang Y, Fu M, Lv N and Zhan Q.
  TITLE     Identification of RNA-splicing factor Lsm12 as a novel
            tumor-associated gene and a potent biomarker in Oral Squamous Cell
            Carcinoma (OSCC)
  JOURNAL   J Exp Clin Cancer Res 41 (1), 150 (2022)
   PUBMED   35449073
  REMARK    GeneRIF: Identification of RNA-splicing factor Lsm12 as a novel
            tumor-associated gene and a potent biomarker in Oral Squamous Cell
            Carcinoma (OSCC).
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 230)
  AUTHORS   Zhang J, Guan X, Shah K and Yan J.
  TITLE     Lsm12 is an NAADP receptor and a two-pore channel regulatory
            protein required for calcium mobilization from acidic organelles
  JOURNAL   Nat Commun 12 (1), 4739 (2021)
   PUBMED   34362892
  REMARK    GeneRIF: Lsm12 is an NAADP receptor and a two-pore channel
            regulatory protein required for calcium mobilization from acidic
            organelles.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 230)
  AUTHORS   Lee J, Park J, Kim JH, Lee G, Park TE, Yoon KJ, Kim YK and Lim C.
  TITLE     LSM12-EPAC1 defines a neuroprotective pathway that sustains the
            nucleocytoplasmic RAN gradient
  JOURNAL   PLoS Biol 18 (12), e3001002 (2020)
   PUBMED   33362237
  REMARK    GeneRIF: LSM12-EPAC1 defines a neuroprotective pathway that
            sustains the nucleocytoplasmic RAN gradient.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 230)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 230)
  AUTHORS   Albrecht M and Lengauer T.
  TITLE     Novel Sm-like proteins with long C-terminal tails and associated
            methyltransferases
  JOURNAL   FEBS Lett 569 (1-3), 18-26 (2004)
   PUBMED   15225602
REFERENCE   6  (residues 1 to 230)
  AUTHORS   Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L,
            Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard
            A, Glueck D, McGavran L, Berry R, Pollack J and Sikela JM.
  TITLE     Lineage-specific gene duplication and loss in human and great ape
            evolution
  JOURNAL   PLoS Biol 2 (7), E207 (2004)
   PUBMED   15252450
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC023855.15.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.288957.1,
                                           SRR1803612.416151.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..230
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..230
                     /product="protein LSM12 isoform 1"
                     /note="protein LSM12 homolog"
                     /calculated_mol_wt=24824
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.4,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (Q3MHD2.2)"
     Region          4..67
                     /region_name="Required for NAADP and TPCN2 binding.
                     /evidence=ECO:0000269|PubMed:34362892"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3MHD2.2)"
     Region          7..67
                     /region_name="LSm12_N"
                     /note="Like-Sm protein 12, N-terminal domain; cd01735"
                     /db_xref="CDD:212482"
     Site            order(15..21,23..35,38..42)
                     /site_type="other"
                     /note="Sm1 motif"
                     /db_xref="CDD:212482"
     Site            order(33,35,59)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:212482"
     Site            55..66
                     /site_type="other"
                     /note="Sm2 motif"
                     /db_xref="CDD:212482"
     Site            75
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q3MHD2.2)"
     Region          78..165
                     /region_name="AD"
                     /note="Anticodon-binding domain; smart00995"
                     /db_xref="CDD:214962"
     CDS             1..230
                     /gene="LSM12"
                     /gene_synonym="PNAS-135"
                     /coded_by="NM_001369484.1:85..777"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS92334.1"
                     /db_xref="GeneID:124801"
                     /db_xref="HGNC:HGNC:26407"
                     /db_xref="MIM:611793"
ORIGIN      
        1 maappgeyfs vgsqvscrtc qeqrlqgevv afdyqskmla lkcpsssgkp nhadillinl
       61 qyvseveiin drtetpppla slnvsklask artekeekls qayaisagvs legqqlfqti
      121 hktikdckwq eknivvmeev vitppyqven ckgkegsals hvrkirqsla lsptlecsga
      181 isahcnlrlp gssdspasas rvpgttgvch htrlemgfhh vgqaglellt
//
LOCUS       NP_001336940             239 aa            linear   PRI 26-DEC-2022
DEFINITION  rab-like protein 2B isoform 4 [Homo sapiens].
ACCESSION   NP_001336940 XP_011528972
VERSION     NP_001336940.1
DBSOURCE    REFSEQ: accession NM_001350011.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 239)
  AUTHORS   Dateyama I, Sugihara Y, Chiba S, Ota R, Nakagawa R, Kobayashi T and
            Itoh H.
  TITLE     RABL2 positively controls localization of GPCRs in mammalian
            primary cilia
  JOURNAL   J Cell Sci 132 (2) (2019)
   PUBMED   30578315
  REMARK    GeneRIF: RABL2 controls localization of GPR161 independently of
            TULP3, which promotes entry of ciliary GPCRs.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 239)
  AUTHORS   Kanie T, Abbott KL, Mooney NA, Plowey ED, Demeter J and Jackson PK.
  TITLE     The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate
            Intraflagellar Transport at the Ciliary Base
  JOURNAL   Dev Cell 42 (1), 22-36 (2017)
   PUBMED   28625565
  REMARK    GeneRIF: CEP19 is recruited to the ciliary base by the centriolar
            CEP350/FOP complex and then specifically captures GTP-bound RABL2B,
            which is activated via its intrinsic nucleotide exchange.
REFERENCE   3  (residues 1 to 239)
  AUTHORS   Nishijima Y, Hagiya Y, Kubo T, Takei R, Katoh Y and Nakayama K.
  TITLE     RABL2 interacts with the intraflagellar transport-B complex and
            CEP19 and participates in ciliary assembly
  JOURNAL   Mol Biol Cell 28 (12), 1652-1666 (2017)
   PUBMED   28428259
REFERENCE   4  (residues 1 to 239)
  AUTHORS   Hosseini SH, Sadighi Gilani MA, Meybodi AM and Sabbaghian M.
  TITLE     The impact of RABL2B gene (rs144944885) on human male infertility
            in patients with oligoasthenoteratozoospermia and immotile short
            tail sperm defects
  JOURNAL   J Assist Reprod Genet 34 (4), 505-510 (2017)
   PUBMED   28138870
  REMARK    GeneRIF: According to the present study, 50776482 delC allele in
            the RABL2B gene could be a risk factor in Iranian infertile men
            with oligoasthenoteratozoospermia defect, but more genetic studies
            are required to understand the accurate role of this variant in
            pathogenesis of human male infertility.
REFERENCE   5  (residues 1 to 239)
  AUTHORS   Kramer M, Backhaus O, Rosenstiel P, Horn D, Klopocki E, Birkenmeier
            G, Schreiber S, Platzer M, Hampe J and Huse K.
  TITLE     Analysis of relative gene dosage and expression differences of the
            paralogs RABL2A and RABL2B by Pyrosequencing
  JOURNAL   Gene 455 (1-2), 1-7 (2010)
   PUBMED   20138207
  REMARK    GeneRIF: In human samples no deviations of the euploid genomic
            state could be detected indicating that 22q13 microdeletions
            involving RABL2B are rare.
REFERENCE   6  (residues 1 to 239)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   7  (residues 1 to 239)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   8  (residues 1 to 239)
  AUTHORS   Wong AC, Shkolny D, Dorman A, Willingham D, Roe BA and McDermid HE.
  TITLE     Two novel human RAB genes with near identical sequence each map to
            a telomere-associated region: the subtelomeric region of 22q13.3
            and the ancestral telomere band 2q13
  JOURNAL   Genomics 59 (3), 326-334 (1999)
   PUBMED   10444334
REFERENCE   9  (residues 1 to 239)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313442.1, BF435772.1,
            AA312189.1, BC075856.1 and BC024281.1.
            On Apr 1, 2017 this sequence version replaced XP_011528972.1.
            
            Summary: The RABL2B protein is a member of the RAB gene family
            which belongs to the RAS GTPase superfamily. RABL2B is located
            within a subtelomeric region of 22q13.3. Multiple alternatively
            spliced transcript variants encoding several different isoforms
            have been found for this gene. [provided by RefSeq, Aug 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.28449.1,
                                           SRR14038194.2653726.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..239
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     Protein         1..239
                     /product="rab-like protein 2B isoform 4"
                     /note="RAB-like protein 2B"
                     /calculated_mol_wt=27126
     Region          22..192
                     /region_name="RabL2"
                     /note="Rab GTPase-like family 2 (Rab-like2); cd04124"
                     /db_xref="CDD:133324"
     Site            22..23
                     /site_type="other"
                     /note="Rab subfamily motif 1 (RabSF1)"
                     /db_xref="CDD:133324"
     Site            28..35
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:133324"
     Site            order(30..36,46,52..53,79,133..134,136,160..162)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:133324"
     Site            order(36..46,51..52)
                     /site_type="other"
                     /note="Rab subfamily motif 2 (RabSF2)"
                     /db_xref="CDD:133324"
     Site            order(46,51..59)
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:133324"
     Site            order(51,55..62,69,71)
                     /site_type="other"
                     /note="putative GEF interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:133324"
     Site            53
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:133324"
     Site            order(54,56..58,73,75,82..83,86,90,92..95)
                     /site_type="active"
                     /note="putative effector interaction site [active]"
                     /db_xref="CDD:133324"
     Site            order(54..55,57,75..76,83,85,87..89)
                     /site_type="other"
                     /note="putative GDI interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:133324"
     Site            54..58
                     /site_type="other"
                     /note="Rab family motif 1 (RabF1)"
                     /db_xref="CDD:133324"
     Site            71..75
                     /site_type="other"
                     /note="Rab family motif 2 (RabF2)"
                     /db_xref="CDD:133324"
     Site            76..79
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:133324"
     Site            order(79,81..91)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:133324"
     Site            82..87
                     /site_type="other"
                     /note="Rab family motif 3 (RabF3)"
                     /db_xref="CDD:133324"
     Site            90..94
                     /site_type="other"
                     /note="Rab family motif 4 (RabF4)"
                     /db_xref="CDD:133324"
     Site            99..104
                     /site_type="other"
                     /note="Rab family motif 5 (RabF5)"
                     /db_xref="CDD:133324"
     Site            122..130
                     /site_type="other"
                     /note="Rab subfamily motif 3 (RabSF3)"
                     /db_xref="CDD:133324"
     Site            133..136
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:133324"
     Site            160..162
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:133324"
     Site            186..192
                     /site_type="other"
                     /note="Rab subfamily motif 4 (RabSF4)"
                     /db_xref="CDD:133324"
     CDS             1..239
                     /gene="RABL2B"
                     /coded_by="NM_001350011.2:194..913"
                     /note="isoform 4 is encoded by transcript variant 16"
                     /db_xref="GeneID:11158"
                     /db_xref="HGNC:HGNC:9800"
                     /db_xref="MIM:605413"
ORIGIN      
        1 maedktkpse ldqgkydadd nvkiiclgds avgksklmer flmdgfqpqq lstyaltlyk
       61 htatvdgrti lvdfwdtagq erfqsmhasy yhkahacimv fdvqrkvtyr nlstwytelr
      121 efrpeipciv vankidadin vtqksfnfak kfslplyfvs aadgtnvvkv wltaevaskl
      181 fndairlavs ykqnsqdfmd eifqelenfs leqeeedvpd qeqsssietp seeaasphs
//
LOCUS       NP_001238952              80 aa            linear   PRI 26-DEC-2022
DEFINITION  prosalusin isoform e [Homo sapiens].
ACCESSION   NP_001238952
VERSION     NP_001238952.1
DBSOURCE    REFSEQ: accession NM_001252023.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 80)
  AUTHORS   Chen H and Jin G.
  TITLE     Downregulation of Salusin-beta protects renal tubular epithelial
            cells against high glucose-induced inflammation, oxidative stress,
            apoptosis and lipid accumulation via suppressing miR-155-5p
  JOURNAL   Bioengineered 12 (1), 6155-6165 (2021)
   PUBMED   34482798
  REMARK    GeneRIF: Downregulation of Salusin-beta protects renal tubular
            epithelial cells against high glucose-induced inflammation,
            oxidative stress, apoptosis and lipid accumulation via suppressing
            miR-155-5p.
REFERENCE   2  (residues 1 to 80)
  AUTHORS   Argun D, Argun F and Borku Uysal B.
  TITLE     Evaluation of salusin-alpha and salusin-beta levels in patients
            with type 2 diabetes mellitus and determination of the impact of
            severity of hyperglycemia on salusin levels
  JOURNAL   Ir J Med Sci 190 (4), 1403-1411 (2021)
   PUBMED   34109528
  REMARK    GeneRIF: Evaluation of salusin-alpha and salusin-beta levels in
            patients with type 2 diabetes mellitus and determination of the
            impact of severity of hyperglycemia on salusin levels.
REFERENCE   3  (residues 1 to 80)
  AUTHORS   Arkan A, Atukeren P, Ikitimur B, Simsek G, Koksal S, Gelisgen R,
            Ongen Z and Uzun H.
  TITLE     The importance of circulating levels of salusin-alpha,
            salusin-beta, and heregulin-beta1 in atherosclerotic coronary
            arterial disease
  JOURNAL   Clin Biochem 87, 19-25 (2021)
   PUBMED   33031820
  REMARK    GeneRIF: The importance of circulating levels of salusin-alpha,
            salusin-beta, and heregulin-beta1 in atherosclerotic coronary
            arterial disease.
REFERENCE   4  (residues 1 to 80)
  AUTHORS   Yassien M, Fawzy O, Mahmoud E and Khidr EG.
  TITLE     Serum salusin-beta in relation to atherosclerosis and ventricular
            dysfunction in patients with type 2 diabetes mellitus
  JOURNAL   Diabetes Metab Syndr 14 (6), 2057-2062 (2020)
   PUBMED   33113473
  REMARK    GeneRIF: Serum salusin-beta in relation to atherosclerosis and
            ventricular dysfunction in patients with type 2 diabetes mellitus.
REFERENCE   5  (residues 1 to 80)
  AUTHORS   Kimura M, Shindo M, Moriizumi T, Tagawa N, Fujinami A, Kato I and
            Uchida Y.
  TITLE     Salusin-beta, an antimicrobially active peptide against
            Gram-positive bacteria
  JOURNAL   Chem Pharm Bull (Tokyo) 62 (6), 586-590 (2014)
   PUBMED   24881665
  REMARK    GeneRIF: Salusin-beta is an antimicrobial peptide with potent
            antibacterial activity against Gram-positive microorganisms.
REFERENCE   6  (residues 1 to 80)
  AUTHORS   Wang Z, Takahashi T, Saito Y, Nagasaki H, Ly NK, Nothacker HP,
            Reinscheid RK, Yang J, Chang JK, Shichiri M and Civelli O.
  TITLE     Salusin beta is a surrogate ligand of the mas-like G
            protein-coupled receptor MrgA1
  JOURNAL   Eur J Pharmacol 539 (3), 145-150 (2006)
   PUBMED   16697365
  REMARK    GeneRIF: Human salusin beta is a surrogate ligand of mouse MrgA1.
REFERENCE   7  (residues 1 to 80)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   8  (residues 1 to 80)
  AUTHORS   Shichiri M, Ishimaru S, Ota T, Nishikawa T, Isogai T and Hirata Y.
  TITLE     Salusins: newly identified bioactive peptides with hemodynamic and
            mitogenic activities
  JOURNAL   Nat Med 9 (9), 1166-1172 (2003)
   PUBMED   12910263
  REMARK    GeneRIF: the identification and characterization of two related
            peptides of 28 and 20 amino acids, which we designated
            salusin-alpha and salusin-beta. Salusins are translated from an
            alternatively spliced mRNA of TOR2A
REFERENCE   9  (residues 1 to 80)
  AUTHORS   Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish
            C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP and
            Breakefield XO.
  TITLE     The TOR1A (DYT1) gene family and its role in early onset torsion
            dystonia
  JOURNAL   Genomics 62 (3), 377-384 (1999)
   PUBMED   10644435
REFERENCE   10 (residues 1 to 80)
  AUTHORS   Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C,
            de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler
            AJ, Gusella JF and Breakefield XO.
  TITLE     The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding
            protein
  JOURNAL   Nat Genet 17 (1), 40-48 (1997)
   PUBMED   9288096
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN263138.1, BM695589.1 and
            AY358180.1.
            
            Summary: This gene encodes a member of the AAA family of adenosine
            triphosphatases with similarity to Clp proteases and heat shock
            proteins. Alternative splicing at this locus results in the
            translation of multiple isoforms of the encoded protein, some of
            which contain salusin peptides in the C-terminal region. These
            peptides may play roles in hypotension, myocardial growth and the
            induction of mitogenesis, and may also be involved in the
            pathogenesis of atherosclerosis. The antimicrobial peptide
            salusin-beta has antibacterial activity. [provided by RefSeq, Nov
            2014].
            
            Transcript Variant: This variant (5) lacks two exons and uses a
            downstream, in-frame start codon, compared to variant 1. The
            encoded isoform (e) is significantly shorter and has a distinct
            C-terminus, compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC080527.1, DRR138512.189391.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            Protein has antimicrobial activity :: PMID: 24881665
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..80
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     Protein         1..80
                     /product="prosalusin isoform e"
                     /note="prosalusin; torsin-2A; torsin-related protein 1;
                     salusin-beta"
                     /calculated_mol_wt=8522
     mat_peptide     30..49
                     /product="Salusin-beta"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     24881665]"
                     /calculated_mol_wt=2343
     CDS             1..80
                     /gene="TOR2A"
                     /gene_synonym="TORP1"
                     /coded_by="NM_001252023.2:245..487"
                     /note="isoform e is encoded by transcript variant 5"
                     /db_xref="GeneID:27433"
                     /db_xref="HGNC:HGNC:11996"
                     /db_xref="MIM:608052"
ORIGIN      
        1 mdkmppglme vlrpflgssw vvygtnyrka ififirwllk lghhgrappr rsgalppapa
       61 aprpalraqr agpagpgakg
//
LOCUS       NP_001093217             662 aa            linear   PRI 26-DEC-2022
DEFINITION  syntabulin isoform b [Homo sapiens].
ACCESSION   NP_001093217
VERSION     NP_001093217.1
DBSOURCE    REFSEQ: accession NM_001099747.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 662)
  AUTHORS   Xu J, Wang N, Luo JH and Xia J.
  TITLE     Syntabulin regulates the trafficking of PICK1-containing vesicles
            in neurons
  JOURNAL   Sci Rep 6, 20924 (2016)
   PUBMED   26868290
  REMARK    GeneRIF: syntabulin forms a complex with PICK1 and ASICs, regulates
            ASIC protein expression in neurons, and participates in
            ASIC-induced acidotoxicity.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 662)
  AUTHORS   Ying Y, Li L, Cao W, Yan D, Zeng Q, Kong X, Lu L, Yan M, Xu X, Qu
            J, Su Q and Ma X.
  TITLE     The microtubule associated protein syntabulin is required for
            glucose-stimulated and cAMP-potentiated insulin secretion
  JOURNAL   FEBS Lett 586 (20), 3674-3680 (2012)
   PUBMED   22975310
  REMARK    GeneRIF: syntabulin could be a novel effector of Epac2 and play a
            critical role in cAMP-enhanced insulin secretion
REFERENCE   3  (residues 1 to 662)
  AUTHORS   Cai Q, Pan PY and Sheng ZH.
  TITLE     Syntabulin-kinesin-1 family member 5B-mediated axonal transport
            contributes to activity-dependent presynaptic assembly
  JOURNAL   J Neurosci 27 (27), 7284-7296 (2007)
   PUBMED   17611281
REFERENCE   4  (residues 1 to 662)
  AUTHORS   Funakoshi E, Fukui M, Hamano A, Okamoto H, Sugiyama C, Nishiyama N,
            Ogita K, Hori T, Shimizu N and Ito F.
  TITLE     Expression of m-Golsyn/Syntabulin gene during mouse brain
            development
  JOURNAL   Neurosci Lett 403 (3), 244-249 (2006)
   PUBMED   16750881
  REMARK    GeneRIF: Functional characterization of the mouse Golsyn/Syntabulin
            ortholog.
REFERENCE   5  (residues 1 to 662)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   6  (residues 1 to 662)
  AUTHORS   Cai Q, Gerwin C and Sheng ZH.
  TITLE     Syntabulin-mediated anterograde transport of mitochondria along
            neuronal processes
  JOURNAL   J Cell Biol 170 (6), 959-969 (2005)
   PUBMED   16157705
REFERENCE   7  (residues 1 to 662)
  AUTHORS   Funakoshi E, Nakagawa KY, Hamano A, Hori T, Shimizu A, Asakawa S,
            Shimizu N and Ito F.
  TITLE     Molecular cloning and characterization of gene for Golgi-localized
            syntaphilin-related protein on human chromosome 8q23
  JOURNAL   Gene 344, 259-271 (2005)
   PUBMED   15656992
REFERENCE   8  (residues 1 to 662)
  AUTHORS   Su Q, Cai Q, Gerwin C, Smith CL and Sheng ZH.
  TITLE     Syntabulin is a microtubule-associated protein implicated in
            syntaxin transport in neurons
  JOURNAL   Nat Cell Biol 6 (10), 941-953 (2004)
   PUBMED   15459722
REFERENCE   9  (residues 1 to 662)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human RPE/choroid for the
            NEIBank Project: over 6000 non-redundant transcripts, novel genes
            and splice variants
  JOURNAL   Mol Vis 8, 205-220 (2002)
   PUBMED   12107410
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB195677.1, BU607867.1 and AC079061.8.
            
            Summary: Syntabulin/GOLSYN is part of a kinesin motor-adaptor
            complex that is critical for the anterograde axonal transport of
            active zone components and contributes to activity-dependent
            presynaptic assembly during neuronal development (Cai et al., 2007
            [PubMed 17611281]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (8) differs in the 5' UTR and uses
            an alternate in-frame splice site in the 5' coding region, compared
            to variant 1, resulting in a shorter protein (isoform b), compared
            to isoform a. Variants 7-11 encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.178987.1,
                                           SRR1660805.88287.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..662
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q23.2"
     Protein         1..662
                     /product="syntabulin isoform b"
                     /note="syntaxin-1-binding protein; Golgi-localized
                     protein; GOLSYN A protein; GOLSYN B protein; GOLSYN C
                     protein; microtubule-associated protein; implicated in
                     syntaxin trafficking in neurons; golgi-localized
                     syntaphilin-related protein; syntabulin
                     (syntaxin-interacting)"
                     /calculated_mol_wt=72129
     Site            49
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NX95.2)"
     Site            106
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BHS8; propagated from
                     UniProtKB/Swiss-Prot (Q9NX95.2)"
     Region          210..502
                     /region_name="Syntaphilin"
                     /note="Golgi-localized syntaxin-1-binding clamp;
                     pfam15290"
                     /db_xref="CDD:434601"
     Region          215..266
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX95.2)"
     Region          309..416
                     /region_name="Sufficient for interaction with STX1A.
                     /evidence=ECO:0000269|PubMed:15459722"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX95.2)"
     Site            395
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9NX95.2)"
     Site            554
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BHS8; propagated from
                     UniProtKB/Swiss-Prot (Q9NX95.2)"
     Site            605..625
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX95.2)"
     CDS             1..662
                     /gene="SYBU"
                     /gene_synonym="GOLSYN; OCSYN; SNPHL"
                     /coded_by="NM_001099747.2:173..2161"
                     /note="isoform b is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS43763.1"
                     /db_xref="GeneID:55638"
                     /db_xref="HGNC:HGNC:26011"
                     /db_xref="MIM:611568"
ORIGIN      
        1 mgplreskeh rvqhhdkeis rsriprlilr phmpqqqhkv spasespfse eesrefnpss
       61 sgrsartvss nsfcsddtgc pssqsvspvk tpsdagnspi gfcpgsdegf trkkctigmv
      121 gegsiqssry kkesksglvk pgseadfsss sstgsisape vhmstagskr ssssrnrgph
      181 grsngasshk pgsspsspre kdllsmlcrn qlspvnihps yapsspsssn sgsykgsdcs
      241 pimrrsgrym scgenhgvrp pnpeqyltpl qqkevtvrhl ktklkeserr lhereseive
      301 lksqlarmre dwieeechrv eaqlalkear keikqlkqvi etmrssladk dkgiqkyfvd
      361 iniqnkkles llqsmemahs gslrdelcld fpcdspeksl tlnppldtma dglsleeqvt
      421 gegadrellv gdsianstdl fdeivtattt esgdlelvhs tpganvlell pivmgqeegs
      481 vvveravqtd vvpyspaise liqsvlqklq dpcpsslasp desepdsmes fpeslsalvv
      541 dltprnpnsa illspvetpy anvdaevhan rlmreldfaa cveerldgvi plarggvvrq
      601 ywsssflvdl lavaapvvpt vlwafstqrg gtdpvyniga llrgccvval hslrrtafri
      661 kt
//
LOCUS       NP_001362874             258 aa            linear   PRI 27-DEC-2022
DEFINITION  PTB domain-containing engulfment adapter protein 1 isoform f [Homo
            sapiens].
ACCESSION   NP_001362874
VERSION     NP_001362874.1
DBSOURCE    REFSEQ: accession NM_001375945.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 258)
  AUTHORS   Hayashi M, Guida E, Inokawa Y, Goldberg R, Reis LO, Ooki A, Pilli
            M, Sadhukhan P, Woo J, Choi W, Izumchenko E, Gonzalez LM,
            Marchionni L, Zhavoronkov A, Brait M, Bivalacqua T, Baras A, Netto
            GJ, Koch W, Singh A and Hoque MO.
  TITLE     GULP1 regulates the NRF2-KEAP1 signaling axis in urothelial
            carcinoma
  JOURNAL   Sci Signal 13 (645) (2020)
   PUBMED   32817372
  REMARK    GeneRIF: GULP1 regulates the NRF2-KEAP1 signaling axis in
            urothelial carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 258)
  AUTHORS   Chau DD, Yung KW, Chan WW, An Y, Hao Y, Chan HE, Ngo JC and Lau KF.
  TITLE     Attenuation of amyloid-beta generation by atypical protein kinase
            C-mediated phosphorylation of engulfment adaptor PTB domain
            containing 1 threonine 35
  JOURNAL   FASEB J 33 (11), 12019-12035 (2019)
   PUBMED   31373844
  REMARK    GeneRIF: Results indicate that GULP, engulfment adaptor PTB domain
            containing 1 (GULP1) threonine 35 (T35) phosphorylation is a
            mechanism for the regulation of GULP1-amyloid beta precursor
            protein (APP) interaction and thereby APP processing.
REFERENCE   3  (residues 1 to 258)
  AUTHORS   Gong J, Gaitanos TN, Luu O, Huang Y, Gaitanos L, Lindner J,
            Winklbauer R and Klein R.
  TITLE     Gulp1 controls Eph/ephrin trogocytosis and is important for cell
            rearrangements during development
  JOURNAL   J Cell Biol 218 (10), 3455-3471 (2019)
   PUBMED   31409653
  REMARK    GeneRIF: the phagocytic adaptor protein Gulp1 regulates
            EphB/ephrinB trogocytosis to achieve efficient cell rearrangements
            of cultured cells and during embryonic development
REFERENCE   4  (residues 1 to 258)
  AUTHORS   Faralli JA, Desikan H, Peotter J, Kanneganti N, Weinhaus B, Filla
            MS and Peters DM.
  TITLE     Genomic/proteomic analyses of dexamethasone-treated human
            trabecular meshwork cells reveal a role for GULP1 and ABR in
            phagocytosis
  JOURNAL   Mol Vis 25, 237-254 (2019)
   PUBMED   31516309
  REMARK    GeneRIF: The knockdown of GULP1 and ABR using siRNAs decreased
            phagocytosis by 40%.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 258)
  AUTHORS   Maldonado L, Brait M, Izumchenko E, Begum S, Chatterjee A, Sen T,
            Loyo M, Barbosa A, Poeta ML, Makarev E, Zhavoronkov A, Fazio VM,
            Angioli R, Rabitti C, Ongenaert M, Van Criekinge W, Noordhuis MG,
            de Graeff P, Wisman GBA, van der Zee AGJ and Hoque MO.
  TITLE     Integrated transcriptomic and epigenomic analysis of ovarian cancer
            reveals epigenetically silenced GULP1
  JOURNAL   Cancer Lett 433, 242-251 (2018)
   PUBMED   29964205
  REMARK    GeneRIF: GULP1 methylation was associated with clinicopathological
            parameters such as stage III/IV, poorly differentiated grade,
            residual disease, worse overall and disease specific survival in
            ovarian cancer.
REFERENCE   6  (residues 1 to 258)
  AUTHORS   Park SY, Kang KB, Thapa N, Kim SY, Lee SJ and Kim IS.
  TITLE     Requirement of adaptor protein GULP during stabilin-2-mediated cell
            corpse engulfment
  JOURNAL   J Biol Chem 283 (16), 10593-10600 (2008)
   PUBMED   18230608
  REMARK    GeneRIF: GULP is a likely downstream molecule in the
            stabilin-2-mediated signaling pathway and plays an important role
            in stabilin-2-mediated phagocytosis
REFERENCE   7  (residues 1 to 258)
  AUTHORS   Fu GK, Wang JT, Yang J, Au-Young J and Stuve LL.
  TITLE     Circular rapid amplification of cDNA ends for high-throughput
            extension cloning of partial genes
  JOURNAL   Genomics 84 (1), 205-210 (2004)
   PUBMED   15203218
REFERENCE   8  (residues 1 to 258)
  AUTHORS   Su HP, Nakada-Tsukui K, Tosello-Trampont AC, Li Y, Bu G, Henson PM
            and Ravichandran KS.
  TITLE     Interaction of CED-6/GULP, an adapter protein involved in
            engulfment of apoptotic cells with CED-1 and CD91/low density
            lipoprotein receptor-related protein (LRP)
  JOURNAL   J Biol Chem 277 (14), 11772-11779 (2002)
   PUBMED   11729193
  REMARK    GeneRIF: Interaction of CED-6/GULP, an adapter protein involved in
            engulfment of apoptotic cells with CED-1 and CD91/low density
            lipoprotein receptor-related protein (LRP).
REFERENCE   9  (residues 1 to 258)
  AUTHORS   Liu QA and Hengartner MO.
  TITLE     Human CED-6 encodes a functional homologue of the Caenorhabditis
            elegans engulfment protein CED-6
  JOURNAL   Curr Biol 9 (22), 1347-1350 (1999)
   PUBMED   10574771
REFERENCE   10 (residues 1 to 258)
  AUTHORS   Smits E, Van Criekinge W, Plaetinck G and Bogaert T.
  TITLE     The human homologue of Caenorhabditis elegans CED-6 specifically
            promotes phagocytosis of apoptotic cells
  JOURNAL   Curr Biol 9 (22), 1351-1354 (1999)
   PUBMED   10574763
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104131.4, AC108493.6,
            AC125490.5 and AC092598.2.
            
            Summary: The protein encoded by this gene is an adapter protein
            necessary for the engulfment of apoptotic cells by phagocytes.
            Several transcript variants, some protein coding and some thought
            not to be protein coding, have been found for this gene. [provided
            by RefSeq, Nov 2011].
            
            Transcript Variant: This variant (24), as well as variants 23, 25,
            and 26, encodes isoform f.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.4334659.1,
                                           SRR18074967.600776.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..258
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.1-q32.2"
     Protein         1..258
                     /product="PTB domain-containing engulfment adapter protein
                     1 isoform f"
                     /note="engulfment adapter protein; PTB domain adaptor
                     protein CED-6; PTB domain-containing engulfment adapter
                     protein 1; GULP, engulfment adaptor PTB domain containing
                     1; cell death protein 6 homolog; PTB domain adapter
                     protein CED-6"
                     /calculated_mol_wt=28894
     Region          14..111
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          71..>154
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..258
                     /gene="GULP1"
                     /gene_synonym="CED-6; CED6; GULP"
                     /coded_by="NM_001375945.1:518..1294"
                     /note="isoform f is encoded by transcript variant 24"
                     /db_xref="GeneID:51454"
                     /db_xref="HGNC:HGNC:18649"
                     /db_xref="MIM:608165"
ORIGIN      
        1 mnrafsrkkd ktwmhtpeal skhfipynak flgsteveqp kgtevvrdav rklkfarhik
       61 ksegqkipkv elqisiygvk ilepktkaee itltigqafd layrkflesg gkdvetrkqi
      121 aglqkriqdl etenmelknk vqdlenqlri tqvsappags mtpkspstdi fdmipfspis
      181 hqssmptrng tqpppvpsrs teikrdlfga epfdpfncga adfppdiqsk ldemqegfkm
      241 gltlegtvfc ldpldsrc
//
LOCUS       NP_001307815             251 aa            linear   PRI 28-DEC-2022
DEFINITION  ATP synthase subunit gamma, mitochondrial isoform 3 [Homo sapiens].
ACCESSION   NP_001307815 XP_011517792
VERSION     NP_001307815.1
DBSOURCE    REFSEQ: accession NM_001320886.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 251)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 251)
  AUTHORS   Pecina P, Nuskova H, Karbanova V, Kaplanova V, Mracek T and Houstek
            J.
  TITLE     Role of the mitochondrial ATP synthase central stalk subunits gamma
            and delta in the activity and assembly of the mammalian enzyme
  JOURNAL   Biochim Biophys Acta Bioenerg 1859 (5), 374-381 (2018)
   PUBMED   29499186
  REMARK    GeneRIF: Both gamma and delta subunits silenced cells displayed
            decreased ATP synthase function - lowered rate of ADP-stimulated
            respiration, a two-fold increased sensitivity of respiration to
            inhibitor oligomycin, and impaired utilization of mitochondrial
            membrane potential for ADP phosphorylation.
REFERENCE   3  (residues 1 to 251)
  AUTHORS   Fujikawa M, Sugawara K, Tanabe T and Yoshida M.
  TITLE     Assembly of human mitochondrial ATP synthase through two separate
            intermediates, F1-c-ring and b-e-g complex
  JOURNAL   FEBS Lett 589 (19 Pt B), 2707-2712 (2015)
   PUBMED   26297831
REFERENCE   4  (residues 1 to 251)
  AUTHORS   Watanabe R and Noji H.
  TITLE     Chemomechanical coupling mechanism of F(1)-ATPase: catalysis and
            torque generation
  JOURNAL   FEBS Lett 587 (8), 1030-1035 (2013)
   PUBMED   23395605
  REMARK    GeneRIF: Studies indicate that F1-ATPase (F1) is a rotary motor
            protein driven by ATP hydrolysis and the minimum complex of F1 for
            function as a rotary motor is the alpha3beta3gamma subcomplex.
            Review article
REFERENCE   5  (residues 1 to 251)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   6  (residues 1 to 251)
  AUTHORS   Elston T, Wang H and Oster G.
  TITLE     Energy transduction in ATP synthase
  JOURNAL   Nature 391 (6666), 510-513 (1998)
   PUBMED   9461222
REFERENCE   7  (residues 1 to 251)
  AUTHORS   Abrahams JP, Leslie AG, Lutter R and Walker JE.
  TITLE     Structure at 2.8 A resolution of F1-ATPase from bovine heart
            mitochondria
  JOURNAL   Nature 370 (6491), 621-628 (1994)
   PUBMED   8065448
REFERENCE   8  (residues 1 to 251)
  AUTHORS   Jabs EW, Thomas PJ, Bernstein M, Coss C, Ferreira GC and Pedersen
            PL.
  TITLE     Chromosomal localization of genes required for the terminal steps
            of oxidative metabolism: alpha and gamma subunits of ATP synthase
            and the phosphate carrier
  JOURNAL   Hum Genet 93 (5), 600-602 (1994)
   PUBMED   8168843
REFERENCE   9  (residues 1 to 251)
  AUTHORS   Matsuda C, Endo H, Ohta S and Kagawa Y.
  TITLE     Gene structure of human mitochondrial ATP synthase gamma-subunit.
            Tissue specificity produced by alternative RNA splicing
  JOURNAL   J Biol Chem 268 (33), 24950-24958 (1993)
   PUBMED   8227057
REFERENCE   10 (residues 1 to 251)
  AUTHORS   Boyer,P.D., Cross,R.L. and Momsen,W.
  TITLE     A new concept for energy coupling in oxidative phosphorylation
            based on a molecular explanation of the oxygen exchange reactions
  JOURNAL   Proc Natl Acad Sci U S A 70 (10), 2837-2839 (1973)
   PUBMED   4517936
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI603806.1 and BC026049.1.
            On Mar 9, 2016 this sequence version replaced XP_011517792.1.
            
            Summary: This gene encodes a subunit of mitochondrial ATP synthase.
            Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an
            electrochemical gradient of protons across the inner membrane
            during oxidative phosphorylation. ATP synthase is composed of two
            linked multi-subunit complexes: the soluble catalytic core, F1, and
            the membrane-spanning component, Fo, comprising the proton channel.
            The catalytic portion of mitochondrial ATP synthase consists of 5
            different subunits (alpha, beta, gamma, delta, and epsilon)
            assembled with a stoichiometry of 3 alpha, 3 beta, and a single
            representative of the other 3. The proton channel consists of three
            main subunits (a, b, c). This gene encodes the gamma subunit of the
            catalytic core. Alternatively spliced transcript variants encoding
            different isoforms have been identified. This gene also has a
            pseudogene on chromosome 14. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) encodes isoform 3, which lacks
            a mitochondrial transit peptide compared to isoforms L and H.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2065153.1,
                                           SRR14478891.2742607.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..251
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p14"
     Protein         1..251
                     /product="ATP synthase subunit gamma, mitochondrial
                     isoform 3"
                     /EC_number="3.6.1.14"
                     /note="mitochondrial ATP synthase, gamma subunit 1; ATP
                     synthase gamma chain, mitochondrial; ATP synthase subunit
                     gamma, mitochondrial; F-ATPase gamma subunit; ATP
                     synthase, H+ transporting, mitochondrial F1 complex, gamma
                     polypeptide 1"
                     /calculated_mol_wt=27497
     Region          1..250
                     /region_name="ATPsyn_F1gamma"
                     /note="ATP synthase, F1 gamma subunit; TIGR01146"
                     /db_xref="CDD:273469"
     Site            order(1,3..4,7..8,53,55..58,88..89,92..93,96,213,216..217,
                     220,226,229..230,232..233,236..237,240,242..247)
                     /site_type="other"
                     /note="core domain interface [polypeptide binding]"
                     /db_xref="CDD:213394"
     Site            order(18..19,21..22,25,28..29,178,181..182,185)
                     /site_type="other"
                     /note="delta subunit interface [polypeptide binding]"
                     /db_xref="CDD:213394"
     Site            order(91,103..108,181,184..185)
                     /site_type="other"
                     /note="epsilon subunit interface [polypeptide binding]"
                     /db_xref="CDD:213394"
     CDS             1..251
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /coded_by="NM_001320886.2:138..893"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:509"
                     /db_xref="HGNC:HGNC:833"
                     /db_xref="MIM:108729"
ORIGIN      
        1 mkmvaaakya raerelkpar iyglgslaly ekadikgped kkkhlligvs sdrglcgaih
       61 ssiakqmkse vatltaagke vmlvgigdki rgilyrthsd qflvafkevg rkpptfgdas
      121 vialellnsg yefdegsiif nkfrsvisyk teekpifsln tvasadsmsi yddidadvlq
      181 nyqeynlani iyyslkestt seqsarmtam dnasknasem idkltltfnr trqavitkel
      241 ieiisgaaal d
//
LOCUS       NP_001020105             559 aa            linear   PRI 29-DEC-2022
DEFINITION  actin-binding protein WASF1 [Homo sapiens].
ACCESSION   NP_001020105
VERSION     NP_001020105.1
DBSOURCE    REFSEQ: accession NM_001024934.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 559)
  AUTHORS   Cheng J, Song Y, Xu J, Li HH and Zheng JF.
  TITLE     LncRNA PVT1 promotes the malignant progression of acute myeloid
            leukaemia via sponging miR-29 family to increase WAVE1 expression
  JOURNAL   Pathology 53 (5), 613-622 (2021)
   PUBMED   33558065
  REMARK    GeneRIF: LncRNA PVT1 promotes the malignant progression of acute
            myeloid leukaemia via sponging miR-29 family to increase WAVE1
            expression.
REFERENCE   2  (residues 1 to 559)
  AUTHORS   Ozawa M, Hiver S, Yamamoto T, Shibata T, Upadhyayula S,
            Mimori-Kiyosue Y and Takeichi M.
  TITLE     Adherens junction regulates cryptic lamellipodia formation for
            epithelial cell migration
  JOURNAL   J Cell Biol 219 (10) (2020)
   PUBMED   32886101
  REMARK    GeneRIF: Adherens junction regulates cryptic lamellipodia formation
            for epithelial cell migration.
REFERENCE   3  (residues 1 to 559)
  AUTHORS   Tang Q, Schaks M, Koundinya N, Yang C, Pollard LW, Svitkina TM,
            Rottner K and Goode BL.
  TITLE     WAVE1 and WAVE2 have distinct and overlapping roles in controlling
            actin assembly at the leading edge
  JOURNAL   Mol Biol Cell 31 (20), 2168-2178 (2020)
   PUBMED   32697617
  REMARK    GeneRIF: WAVE1 and WAVE2 have distinct and overlapping roles in
            controlling actin assembly at the leading edge.
REFERENCE   4  (residues 1 to 559)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 559)
  AUTHORS   Graziano BR, Town JP, Sitarska E, Nagy TL, Fosnaric M, Penic S,
            Iglic A, Kralj-Iglic V, Gov NS, Diz-Munoz A and Weiner OD.
  TITLE     Cell confinement reveals a branched-actin independent circuit for
            neutrophil polarity
  JOURNAL   PLoS Biol 17 (10), e3000457 (2019)
   PUBMED   31600188
  REMARK    GeneRIF: WAVE complex is required for neutrophil polarity and
            motility.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 559)
  AUTHORS   Bear JE, Rawls JF and Saxe CL 3rd.
  TITLE     SCAR, a WASP-related protein, isolated as a suppressor of receptor
            defects in late Dictyostelium development
  JOURNAL   J Cell Biol 142 (5), 1325-1335 (1998)
   PUBMED   9732292
REFERENCE   7  (residues 1 to 559)
  AUTHORS   Witke W, Podtelejnikov AV, Di Nardo A, Sutherland JD, Gurniak CB,
            Dotti C and Mann M.
  TITLE     In mouse brain profilin I and profilin II associate with regulators
            of the endocytic pathway and actin assembly
  JOURNAL   EMBO J 17 (4), 967-976 (1998)
   PUBMED   9463375
REFERENCE   8  (residues 1 to 559)
  AUTHORS   She HY, Rockow S, Tang J, Nishimura R, Skolnik EY, Chen M, Margolis
            B and Li W.
  TITLE     Wiskott-Aldrich syndrome protein is associated with the adapter
            protein Grb2 and the epidermal growth factor receptor in living
            cells
  JOURNAL   Mol Biol Cell 8 (9), 1709-1721 (1997)
   PUBMED   9307968
REFERENCE   9  (residues 1 to 559)
  AUTHORS   Kitamura T, Kitamura Y, Yonezawa K, Totty NF, Gout I, Hara K,
            Waterfield MD, Sakaue M, Ogawa W and Kasuga M.
  TITLE     Molecular cloning of p125Nap1, a protein that associates with an
            SH3 domain of Nck
  JOURNAL   Biochem Biophys Res Commun 219 (2), 509-514 (1996)
   PUBMED   8605018
REFERENCE   10 (residues 1 to 559)
  AUTHORS   Whitebread S, Mele M, Kamber B and de Gasparo M.
  TITLE     Preliminary biochemical characterization of two angiotensin II
            receptor subtypes
  JOURNAL   Biochem Biophys Res Commun 163 (1), 284-291 (1989)
   PUBMED   2775266
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG719023.1, BI461486.1,
            BC068546.1, BC044591.1 and AI928895.1.
            
            Summary: The protein encoded by this gene, a member of the
            Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical
            role downstream of Rac, a Rho-family small GTPase, in regulating
            the actin cytoskeleton required for membrane ruffling. It has been
            shown to associate with an actin nucleation core Arp2/3 complex
            while enhancing actin polymerization in vitro. Wiskott-Aldrich
            syndrome is a disease of the immune system, likely due to defects
            in regulation of actin cytoskeleton. Multiple alternatively spliced
            transcript variants encoding the same protein have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an exon in the 5' UTR,
            as compared to variant 1. Variants 1-4 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853559.28468.1,
                                           SRR14038197.2248067.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..559
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21"
     Protein         1..559
                     /product="actin-binding protein WASF1"
                     /note="wiskott-Aldrich syndrome protein family member 1;
                     homology of dictyostelium scar 1; verprolin homology
                     domain-containing protein 1; protein WAVE-1; WAS protein
                     family member 1; WASP family protein member 1"
                     /calculated_mol_wt=61521
     Region          170..202
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92558.1)"
     Region          304..400
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92558.1)"
     Site            341
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8R5H6;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8R5H6; propagated from
                     UniProtKB/Swiss-Prot (Q92558.1)"
     Region          412..491
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92558.1)"
     Region          485..559
                     /region_name="WH2_WAVE-1"
                     /note="Wiskott Aldrich syndrome homology region 2 (WH2
                     motif) found in Wiskott-Aldrich Syndrome Protein Family
                     Member 1 (WASP1 or WAVE1 or WASF1 or SCAR1); cd22071"
                     /db_xref="CDD:409214"
     Site            489
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92558.1)"
     Site            order(497..498,500..502,504..506,511..514)
                     /site_type="other"
                     /note="actin-binding motif [polypeptide binding]"
                     /db_xref="CDD:409214"
     Site            order(498..499,501..502,505..506,512..513,531..532,
                     535..536,539,543)
                     /site_type="other"
                     /note="Nap1 binding interface [polypeptide binding]"
                     /db_xref="CDD:409214"
     Region          511..514
                     /region_name="actin-binding sequence"
                     /note="actin-binding sequence [structural motif]"
                     /db_xref="CDD:409214"
     CDS             1..559
                     /gene="WASF1"
                     /gene_synonym="NEDALVS; SCAR1; WAVE; WAVE1"
                     /coded_by="NM_001024934.2:406..2085"
                     /db_xref="CCDS:CCDS5080.1"
                     /db_xref="GeneID:8936"
                     /db_xref="HGNC:HGNC:12732"
                     /db_xref="MIM:605035"
ORIGIN      
        1 mplvkrnidp rhlchtalpr giknelecvt nislaniirq lsslskyaed ifgelfneah
       61 sfsfrvnslq ervdrlsvsv tqldpkeeel slqditmrka frsstiqdqq lfdrktlpip
      121 lqetydvceq ppplniltpy rddgkeglkf ytnpsyffdl wkekmlqdte dkrkekrkqk
      181 qknldrphep ekvpraphdr rrewqklaqg pelaeddanl lhkhievang pashfetrpq
      241 tyvdhmdgsy slsalpfsqm selltraeer vlvrpheppp pppmhgagda kpiptcissa
      301 tglienrpqs patgrtpvfv sptppppppp lpsalstssl rasmtstppp pvpppppppa
      361 talqapavpp ppaplqiapg vlhpapppia pplvqpsppv araapvcetv pvhplpqgev
      421 qglppppppp plpppgirps spvtvtalah ppsglhptps tapgphvplm ppsppsqvip
      481 asepkrhpst lpvisdarsv lleairkgiq lrkveeqreq eakheriend vatilsrria
      541 veysdsedds efdevdwle
//
LOCUS       NP_001381503             572 aa            linear   PRI 31-DEC-2022
DEFINITION  mitoguardin 1 isoform 8 [Homo sapiens].
ACCESSION   NP_001381503
VERSION     NP_001381503.1
DBSOURCE    REFSEQ: accession NM_001394574.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 572)
  AUTHORS   Liu XM, Zhang YP, Ji SY, Li BT, Tian X, Li D, Tong C and Fan HY.
  TITLE     Mitoguardin-1 and -2 promote maturation and the developmental
            potential of mouse oocytes by maintaining mitochondrial dynamics
            and functions
  JOURNAL   Oncotarget 7 (2), 1155-1167 (2016)
   PUBMED   26716412
REFERENCE   2  (residues 1 to 572)
  AUTHORS   Zhang Y, Liu X, Bai J, Tian X, Zhao X, Liu W, Duan X, Shang W, Fan
            HY and Tong C.
  TITLE     Mitoguardin Regulates Mitochondrial Fusion through MitoPLD and Is
            Required for Neuronal Homeostasis
  JOURNAL   Mol Cell 61 (1), 111-124 (2016)
   PUBMED   26711011
  REMARK    GeneRIF: Propose that MIGA proteins promote mitochondrial fusion by
            regulating mitochondrial phospholipid metabolism via MitoPLD.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC114487.2 and AC138392.2.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1970526,
                              SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..572
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     Protein         1..572
                     /product="mitoguardin 1 isoform 8"
                     /note="protein FAM73A; family with sequence similarity 73,
                     member A"
                     /calculated_mol_wt=64375
     Region          6..543
                     /region_name="Miga"
                     /note="Mitoguardin; pfam10265"
                     /db_xref="CDD:431183"
     CDS             1..572
                     /gene="MIGA1"
                     /gene_synonym="FAM73A"
                     /coded_by="NM_001394574.1:179..1897"
                     /note="isoform 8 is encoded by transcript variant 14"
                     /db_xref="GeneID:374986"
                     /db_xref="HGNC:HGNC:24741"
                     /db_xref="MIM:616773"
ORIGIN      
        1 mseetikfsp vakklfvvta vsaisvifla hhfkrkrgkk kgkilpwepe hlileytkra
       61 asdkgsscss srqnltlsls stkdkgsqvc nyangglfsk ysgsaqslas vqsvnschsc
      121 acgnsnswdk adeddiklvn ipvttpenly lmgmelfeea lrrweqaltf rnrqaedeac
      181 gsiklgagda iaeenvddii stefihklea llqrayrlqe efeatlgasd pnsladdidk
      241 dtditmkgnv edfglrdtls iastdsfasa aelaehrevr htysleslch cpfyeeamhl
      301 veegkiysrv lrtemleclg dsdflaklhc irqafqvils esanriflae sgrkilsali
      361 vkarknpkkf edvfdemiyf leqtdhwgst emelaargvk nlnfydvvld filmdsfedl
      421 enpptsiqnv vnnrwlnssf ketavasscw svlkqkrqqm kipdgffahf yaicehispv
      481 lawgflgprn slydlccffk nqvllflkdi fdfekvryss tetlaedlmq llirrtellm
      541 ayleadalrh tssclsshgh vmstglleak vq
//
LOCUS       NP_001154879             316 aa            linear   PRI 31-DEC-2022
DEFINITION  NEDD4 family-interacting protein 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001154879
VERSION     NP_001154879.1
DBSOURCE    REFSEQ: accession NM_001161407.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 316)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (residues 1 to 316)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 316)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 316)
  AUTHORS   Kang Y, Guo J, Yang T, Li W and Zhang S.
  TITLE     Regulation of the human ether-a-go-go-related gene (hERG) potassium
            channel by Nedd4 family interacting proteins (Ndfips)
  JOURNAL   Biochem J 472 (1), 71-82 (2015)
   PUBMED   26363003
  REMARK    GeneRIF: Data show that membrane protein Ndfip1 recruits E3
            ubiquitin (Ub) ligase Nedd4-2 to the Golgi to target
            ether-a-go-go-related gene (hERG) channel for degradation while
            membrane protein Ndfip2 also mediates Nedd4-2 interaction with hERG
            in the Golgi.
REFERENCE   5  (residues 1 to 316)
  CONSRTM   GENDEP Investigators; MARS Investigators; STAR*D Investigators
  TITLE     Common genetic variation and antidepressant efficacy in major
            depressive disorder: a meta-analysis of three genome-wide
            pharmacogenetic studies
  JOURNAL   Am J Psychiatry 170 (2), 207-217 (2013)
   PUBMED   23377640
REFERENCE   6  (residues 1 to 316)
  AUTHORS   Shearwin-Whyatt LM, Brown DL, Wylie FG, Stow JL and Kumar S.
  TITLE     N4WBP5A (Ndfip2), a Nedd4-interacting protein, localizes to
            multivesicular bodies and the Golgi, and has a potential role in
            protein trafficking
  JOURNAL   J Cell Sci 117 (Pt 16), 3679-3689 (2004)
   PUBMED   15252135
  REMARK    GeneRIF: N4WBP5A acts as an adaptor to recruit Nedd4 family
            ubiquitin-protein ligases to the protein trafficking machinery
REFERENCE   7  (residues 1 to 316)
  AUTHORS   Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ,
            Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan
            SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD,
            Andrews DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J,
            Bannerjee R, Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S,
            Brown AJ, Brown JY, Burrill W, Carder C, Carter NP, Chapman JC,
            Clamp ME, Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins
            JE, Corby N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M,
            Earthrowl ME, Ellington AG, Faulkner L, Frankish AG, Frankland J,
            French L, Garner P, Garnett J, Gilbert JG, Gilson CJ, Ghori J,
            Grafham DV, Gribble SM, Griffiths C, Hall RE, Hammond S, Harley JL,
            Hart EA, Heath PD, Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson
            C, Johnson D, Kay M, Kimberley AM, King A, Laird GK, Langford CJ,
            Lawlor S, Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell
            J, Martin S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne
            S, Moore MJ, Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S,
            Phillimore B, Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R,
            Skuce CD, Smith M, Steward CA, Sycamore N, Tester J, Thomas DW,
            Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, Whitehead
            SL, Willey DL, Wilming L, Wray PW, Wright MW, Young L, Coulson A,
            Durbin R, Hubbard T, Sulston JE, Beck S, Bentley DR, Rogers J and
            Ross MT.
  TITLE     The DNA sequence and analysis of human chromosome 13
  JOURNAL   Nature 428 (6982), 522-528 (2004)
   PUBMED   15057823
REFERENCE   8  (residues 1 to 316)
  AUTHORS   Cristillo AD, Nie L, Macri MJ and Bierer BE.
  TITLE     Cloning and characterization of N4WBP5A, an inducible,
            cyclosporine-sensitive, Nedd4-binding protein in human T
            lymphocytes
  JOURNAL   J Biol Chem 278 (36), 34587-34597 (2003)
   PUBMED   12796489
  REMARK    GeneRIF: N4WBP5A may play a regulatory role in modulating Nedd4
            activity at the level of the Golgi apparatus in T lymphocytes
REFERENCE   9  (residues 1 to 316)
  AUTHORS   Matsuda A, Suzuki Y, Honda G, Muramatsu S, Matsuzaki O, Nagano Y,
            Doi T, Shimotohno K, Harada T, Nishida E, Hayashi H and Sugano S.
  TITLE     Large-scale identification and characterization of human genes that
            activate NF-kappaB and MAPK signaling pathways
  JOURNAL   Oncogene 22 (21), 3307-3318 (2003)
   PUBMED   12761501
REFERENCE   10 (residues 1 to 316)
  AUTHORS   Konstas AA, Shearwin-Whyatt LM, Fotia AB, Degger B, Riccardi D,
            Cook DI, Korbmacher C and Kumar S.
  TITLE     Regulation of the epithelial sodium channel by N4WBP5A, a novel
            Nedd4/Nedd4-2-interacting protein
  JOURNAL   J Biol Chem 277 (33), 29406-29416 (2002)
   PUBMED   12050153
  REMARK    GeneRIF: role in regulating epithelial sodium channel
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355603.17 and AL136442.12.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region compared to variant 1. This
            results in a shorter isoform (2) compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.70093.1, AK294839.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..316
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q31.1"
     Protein         1..316
                     /product="NEDD4 family-interacting protein 2 isoform 2"
                     /note="NEDD4 WW domain-binding protein 5A;
                     NF-kappa-B-activating protein 413; MAPK-activating protein
                     PM04 PM05 PM06 PM07; NEDD4 family-interacting protein 2;
                     putative NF-kappa-B-activating protein 413; putative
                     MAPK-activating protein PM04/PM05/PM06/PM07"
                     /calculated_mol_wt=33965
     Region          102..316
                     /region_name="NDFIP-like"
                     /note="NEDD4 family-interacting protein; cl10870"
                     /db_xref="CDD:415965"
     CDS             1..316
                     /gene="NDFIP2"
                     /gene_synonym="N4WBP5A"
                     /coded_by="NM_001161407.2:50..1000"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:54602"
                     /db_xref="HGNC:HGNC:18537"
                     /db_xref="MIM:610041"
ORIGIN      
        1 marrrsqrvc asgpsmlnsa rgapellrgt atnaevsaaa agatgseelp pgdrgcrngg
       61 grgpaattss tgvavgaehg edslsrkpdp epgrmdhhqp gtgryqvlln eednsessai
      121 eqpptsnpap qivqaassap aletdssppp yssitvevpt tsdtevygef ypvpppysva
      181 tslptydeae kakaaamaaa aaetsqriqe eecpprddfs dadqlrvgnd gifmlafftg
      241 rygaicgfgl slikwilivr fsdyftgyfn gqywlwwifl vlglllffrg fvnylkvrnm
      301 sesmaaahrt ryffll
//
LOCUS       NP_004773                258 aa            linear   PRI 22-JAN-2023
DEFINITION  synaptosomal-associated protein 29 [Homo sapiens].
ACCESSION   NP_004773
VERSION     NP_004773.1
DBSOURCE    REFSEQ: accession NM_004782.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 258)
  AUTHORS   Smeele PH and Vaccari T.
  TITLE     Snapshots from within the cell: Novel trafficking and non
            trafficking functions of Snap29 during tissue morphogenesis
  JOURNAL   Semin Cell Dev Biol 133, 42-52 (2023)
   PUBMED   35256275
  REMARK    GeneRIF: Snapshots from within the cell: Novel trafficking and non
            trafficking functions of Snap29 during tissue morphogenesis.
            Review article
REFERENCE   2  (residues 1 to 258)
  AUTHORS   Matsui K, Emoto M, Fukuda N, Nomiyama R, Yamada K and Tanizawa Y.
  TITLE     SNARE-binding protein synaptosomal-associated protein of 29 kDa
            (SNAP29) regulates the intracellular sequestration of glucose
            transporter 4 (GLUT4) vesicles in adipocytes
  JOURNAL   J Diabetes Investig 14 (1), 19-27 (2023)
   PUBMED   36181414
  REMARK    GeneRIF: SNARE-binding protein synaptosomal-associated protein of
            29 kDa (SNAP29) regulates the intracellular sequestration of
            glucose transporter 4 (GLUT4) vesicles in adipocytes.
REFERENCE   3  (residues 1 to 258)
  AUTHORS   Tang Q, Gao P, Arzberger T, Hollerhage M, Herms J, Hoglinger G and
            Koeglsperger T.
  TITLE     Alpha-Synuclein defects autophagy by impairing SNAP29-mediated
            autophagosome-lysosome fusion
  JOURNAL   Cell Death Dis 12 (10), 854 (2021)
   PUBMED   34535638
  REMARK    GeneRIF: Alpha-Synuclein defects autophagy by impairing
            SNAP29-mediated autophagosome-lysosome fusion.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 258)
  AUTHORS   Martens MC, Edelkamp J, Seebode C, Schafer M, Stahlke S, Krohn S,
            Jung O, Murua Escobar H, Emmert S and Boeckmann L.
  TITLE     Generation and Characterization of a CRISPR/Cas9-Mediated SNAP29
            Knockout in Human Fibroblasts
  JOURNAL   Int J Mol Sci 22 (10), 5293 (2021)
   PUBMED   34069872
  REMARK    GeneRIF: Generation and Characterization of a CRISPR/Cas9-Mediated
            SNAP29 Knockout in Human Fibroblasts.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 258)
  AUTHORS   Zhang Y, Sun H, Pei R, Mao B, Zhao Z, Li H, Lin Y and Lu K.
  TITLE     The SARS-CoV-2 protein ORF3a inhibits fusion of autophagosomes with
            lysosomes
  JOURNAL   Cell Discov 7 (1), 31 (2021)
   PUBMED   33947832
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 258)
  AUTHORS   Rotem-Yehudar R, Galperin E and Horowitz M.
  TITLE     Association of insulin-like growth factor 1 receptor with EHD1 and
            SNAP29
  JOURNAL   J Biol Chem 276 (35), 33054-33060 (2001)
   PUBMED   11423532
REFERENCE   7  (residues 1 to 258)
  AUTHORS   Saito T, Guan F, Papolos DF, Rajouria N, Fann CS and Lachman HM.
  TITLE     Polymorphism in SNAP29 gene promoter region associated with
            schizophrenia
  JOURNAL   Mol Psychiatry 6 (2), 193-201 (2001)
   PUBMED   11317222
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Mol Psychiatry 2001 Sep;6(5):605]
REFERENCE   8  (residues 1 to 258)
  AUTHORS   Scales SJ, Chen YA, Yoo BY, Patel SM, Doung YC and Scheller RH.
  TITLE     SNAREs contribute to the specificity of membrane fusion
  JOURNAL   Neuron 26 (2), 457-464 (2000)
   PUBMED   10839363
REFERENCE   9  (residues 1 to 258)
  AUTHORS   Wong SH, Xu Y, Zhang T, Griffiths G, Lowe SL, Subramaniam VN, Seow
            KT and Hong W.
  TITLE     GS32, a novel Golgi SNARE of 32 kDa, interacts preferentially with
            syntaxin 6
  JOURNAL   Mol Biol Cell 10 (1), 119-134 (1999)
   PUBMED   9880331
REFERENCE   10 (residues 1 to 258)
  AUTHORS   Steegmaier M, Yang B, Yoo JS, Huang B, Shen M, Yu S, Luo Y and
            Scheller RH.
  TITLE     Three novel proteins of the syntaxin/SNAP-25 family
  JOURNAL   J Biol Chem 273 (51), 34171-34179 (1998)
   PUBMED   9852078
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG773022.1, AF115436.1,
            AC007308.13 and CA427899.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene, a member of the SNAP25 gene family, encodes a
            protein involved in multiple membrane trafficking steps. Two other
            members of this gene family, SNAP23 and SNAP25, encode proteins
            that bind a syntaxin protein and mediate synaptic vesicle membrane
            docking and fusion to the plasma membrane. The protein encoded by
            this gene binds tightly to multiple syntaxins and is localized to
            intracellular membrane structures rather than to the plasma
            membrane. While the protein is mostly membrane-bound, a significant
            fraction of it is found free in the cytoplasm. Use of multiple
            polyadenylation sites has been noted for this gene. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.113951.1,
                                           SRR1660809.243742.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000215730.12/ ENSP00000215730.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..258
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     Protein         1..258
                     /product="synaptosomal-associated protein 29"
                     /note="vesicle-membrane fusion protein SNAP-29; soluble 29
                     kDa NSF attachment protein; synaptosome associated protein
                     29kDa; synaptosomal-associated protein, 29kD;
                     synaptosomal-associated protein, 29kDa; cerebral
                     dysgenesis, neuropathy, ichthyosis and keratoderma
                     syndrome"
                     /calculated_mol_wt=28839
     Region          1..41
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95721.1)"
     Region          47..111
                     /region_name="SNARE_SNAP29N"
                     /note="N-terminal SNARE motif of SNAP29; cd15887"
                     /db_xref="CDD:277240"
     Site            order(49,52..57,59..64,66..67,70..71,73..78,80..81,83..85,
                     87..92,94..95,97..99,101..102,104..106,108..109,111)
                     /site_type="other"
                     /note="heterotetramer interface [polypeptide binding]"
                     /db_xref="CDD:277240"
     Site            77
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95721.1)"
     Site            78
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95721.1)"
     Site            84
                     /site_type="other"
                     /note="zero layer"
                     /db_xref="CDD:277240"
     Site            114
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O95721.1)"
     Site            130
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95721.1)"
     Site            137
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95721.1)"
     Region          150..191
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95721.1)"
     Site            163
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95721.1)"
     Site            182
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95721.1)"
     Site            185
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95721.1)"
     Region          199..257
                     /region_name="SNARE_SNAP29C"
                     /note="C-terminal SNARE motif of SNAP29; cd15856"
                     /db_xref="CDD:277209"
     Site            order(203..206,208..210,212..214,216..217,219..224,
                     226..227,229..230,233..234,236..238,240..242,244..245,
                     247..248,251..252,254..255,257)
                     /site_type="other"
                     /note="heterotetramer interface [polypeptide binding]"
                     /db_xref="CDD:277209"
     Site            204
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95721.1)"
     Site            210
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95721.1)"
     Site            230
                     /site_type="other"
                     /note="zero layer"
                     /db_xref="CDD:277209"
     CDS             1..258
                     /gene="SNAP29"
                     /gene_synonym="CEDNIK; SNAP-29"
                     /coded_by="NM_004782.4:105..881"
                     /db_xref="CCDS:CCDS13784.1"
                     /db_xref="GeneID:9342"
                     /db_xref="HGNC:HGNC:11133"
                     /db_xref="MIM:604202"
ORIGIN      
        1 msaypksynp fdddgedega rpapwrdard lpdgpdapad rqqylrqevl rraeataast
       61 srslalmyes ekvgvassee larqrgvler tekmvdkmdq dlkisqkhin siksvfgglv
      121 nyfkskpvet ppeqngtlts qpnnrlkeai stskeqeaky qashpnlrkl ddtdpvprga
      181 gsamstdayp knphlrayhq kidsnldels mglgrlkdia lgmqteieeq ddildrlttk
      241 vdkldvniks terkvrql
//
LOCUS       NP_001350521             435 aa            linear   PRI 11-MAR-2023
DEFINITION  bestrophin-1 isoform 6 [Homo sapiens].
ACCESSION   NP_001350521 XP_016873718
VERSION     NP_001350521.1
DBSOURCE    REFSEQ: accession NM_001363592.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 435)
  AUTHORS   Cideciyan AV, Jacobson SG, Sumaroka A, Swider M, Krishnan AK,
            Sheplock R, Garafalo AV, Guziewicz KE, Aguirre GD, Beltran WA,
            Matsui Y, Kondo M and Heon E.
  TITLE     Photoreceptor function and structure in retinal degenerations
            caused by biallelic BEST1 mutations
  JOURNAL   Vision Res 203, 108157 (2023)
   PUBMED   36450205
  REMARK    GeneRIF: Photoreceptor function and structure in retinal
            degenerations caused by biallelic BEST1 mutations.
REFERENCE   2  (residues 1 to 435)
  AUTHORS   Yang S, Li Z, Cheng W, Ma M, Qi R, Rui X, Ren Y, Sheng X and Rong
            W.
  TITLE     BEST1 novel mutation causes Bestrophinopathies in six families with
            distinct phenotypic diversity
  JOURNAL   Mol Genet Genomic Med 11 (1), e2095 (2023)
   PUBMED   36378562
  REMARK    GeneRIF: BEST1 novel mutation causes Bestrophinopathies in six
            families with distinct phenotypic diversity.
REFERENCE   3  (residues 1 to 435)
  AUTHORS   Haque OI, Chandrasekaran A, Nabi F, Ahmad O, Marques JP and Ahmad
            T.
  TITLE     A novel compound heterozygous BEST1 gene mutation in two siblings
            causing autosomal recessive bestrophinopathy
  JOURNAL   BMC Ophthalmol 22 (1), 493 (2022)
   PUBMED   36527004
  REMARK    GeneRIF: A novel compound heterozygous BEST1 gene mutation in two
            siblings causing autosomal recessive bestrophinopathy.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 435)
  AUTHORS   Marquardt A, Stohr H, Passmore LA, Kramer F, Rivera A and Weber BH.
  TITLE     Mutations in a novel gene, VMD2, encoding a protein of unknown
            properties cause juvenile-onset vitelliform macular dystrophy
            (Best's disease)
  JOURNAL   Hum Mol Genet 7 (9), 1517-1525 (1998)
   PUBMED   9700209
REFERENCE   5  (residues 1 to 435)
  AUTHORS   Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren
            O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA,
            McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT and
            Wadelius C.
  TITLE     Identification of the gene responsible for Best macular dystrophy
  JOURNAL   Nat Genet 19 (3), 241-247 (1998)
   PUBMED   9662395
REFERENCE   6  (residues 1 to 435)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   7  (residues 1 to 435)
  AUTHORS   MacDonald,I.M., Lee,T. and Lawrence,J.
  TITLE     Bestrophinopathies
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301346
REFERENCE   8  (residues 1 to 435)
  AUTHORS   Forsman K, Graff C, Nordstrom S, Johansson K, Westermark E,
            Lundgren E, Gustavson KH, Wadelius C and Holmgren G.
  TITLE     The gene for Best's macular dystrophy is located at 11q13 in a
            Swedish family
  JOURNAL   Clin Genet 42 (3), 156-159 (1992)
   PUBMED   1395087
REFERENCE   9  (residues 1 to 435)
  AUTHORS   Stone EM, Nichols BE, Streb LM, Kimura AE and Sheffield VC.
  TITLE     Genetic linkage of vitelliform macular degeneration (Best's
            disease) to chromosome 11q13
  JOURNAL   Nat Genet 1 (4), 246-250 (1992)
   PUBMED   1302019
REFERENCE   10 (residues 1 to 435)
  AUTHORS   Nordstrom,S. and Barkman,Y.
  TITLE     Hereditary maculardegeneration (HMD) in 246 cases traced to one
            gene-source in central Sweden
  JOURNAL   Hereditas 84 (2), 163-176 (1977)
   PUBMED   838599
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003733.5 and AK289681.1.
            On May 24, 2018 this sequence version replaced XP_016873718.1.
            
            Summary: This gene encodes a member of the bestrophin gene family.
            This small gene family is characterized by proteins with a highly
            conserved N-terminus with four to six transmembrane domains.
            Bestrophins may form chloride ion channels or may regulate
            voltage-gated L-type calcium-ion channels. Bestrophins are
            generally believed to form calcium-activated chloride-ion channels
            in epithelial cells but they have also been shown to be highly
            permeable to bicarbonate ion transport in retinal tissue. Mutations
            in this gene are responsible for juvenile-onset vitelliform macular
            dystrophy (VMD2), also known as Best macular dystrophy, in addition
            to adult-onset vitelliform macular dystrophy (AVMD) and other
            retinopathies. Alternative splicing results in multiple variants
            encoding distinct isoforms.[provided by RefSeq, Nov 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.184542.1,
                                           SRR1660809.219985.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..435
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     Protein         1..435
                     /product="bestrophin-1 isoform 6"
                     /note="Best disease; vitelliform macular dystrophy protein
                     2"
                     /calculated_mol_wt=50242
     Region          9..291
                     /region_name="Bestrophin"
                     /note="RFP-TM, chloride channel; pfam01062"
                     /db_xref="CDD:426024"
     Site            26..46
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O76090.1)"
     Site            71..91
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O76090.1)"
     Site            179..199
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O76090.1)"
     Site            271..291
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O76090.1)"
     CDS             1..435
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /coded_by="NM_001363592.1:644..1951"
                     /note="isoform 6 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS86208.1"
                     /db_xref="GeneID:7439"
                     /db_xref="HGNC:HGNC:12703"
                     /db_xref="MIM:607854"
ORIGIN      
        1 mtitytsqva narlgsfsrl llcwrgsiyk llygeflifl lcyyiirfiy rlalteeqql
       61 mfekltlycd syiqlipisf vlgfyvtlvv trwwnqyenl pwpdrlmslv sgfvegkdeq
      121 grllrrtlir yanlgnvlil rsvstavykr fpsaqhlvqa gfmtpaehkq leklslphnm
      181 fwvpwvwfan lsmkawlggr irdpillqsl lnemntlrtq cghlyaydwi siplvytqvv
      241 tvavysfflt clvgrqflnp akaypgheld lvvpvftflq fffyvgwlkv glsrallgwr
      301 hgqrghgqql petrmqcqer kvsrvessqa wwrtpvipat reaeagesle pgrrrlwwqs
      361 ssstplermm milrptglst gicrcpcwlw mrctrtclgw srtctgisps hspptqllpp
      421 ssvepplwap pstsa
//
LOCUS       NP_036443                393 aa            linear   PRI 12-MAR-2023
DEFINITION  DNA/RNA-binding protein KIN17 [Homo sapiens].
ACCESSION   NP_036443
VERSION     NP_036443.1
DBSOURCE    REFSEQ: accession NM_012311.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 393)
  AUTHORS   Dai Z, Huang Q, Huang X, Zhu C, Zahid KR, Liu T, Li Q, Wu C, Peng
            M, Xiao X, Raza U, Yu N and Zeng T.
  TITLE     KIN17 promotes cell migration and invasion through stimulating the
            TGF-beta/Smad2 pathway in hepatocellular carcinoma
  JOURNAL   Mol Carcinog 62 (3), 369-384 (2023)
   PUBMED   36468848
  REMARK    GeneRIF: KIN17 promotes cell migration and invasion through
            stimulating the TGF-beta/Smad2 pathway in hepatocellular carcinoma.
REFERENCE   2  (residues 1 to 393)
  AUTHORS   Gaspar VP, Ramos AC, Cloutier P, Pattaro Junior JR, Duarte Junior
            FF, Bouchard A, Seixas FAV, Coulombe B and Fernandez MA.
  TITLE     Interactome Analysis of KIN (Kin17) Shows New Functions of This
            Protein
  JOURNAL   Curr Issues Mol Biol 43 (2), 767-781 (2021)
   PUBMED   34449532
  REMARK    GeneRIF: Interactome Analysis of KIN (Kin17) Shows New Functions of
            This Protein.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 393)
  AUTHORS   Huang Q, Zahid KR, Chen J, Pang X, Zhong M, Huang H, Pan W, Yin J,
            Raza U, Zeng J, Zhu X and Zeng T.
  TITLE     KIN17 promotes tumor metastasis by activating EMT signaling in
            luminal-A breast cancer
  JOURNAL   Thorac Cancer 12 (13), 2013-2023 (2021)
   PUBMED   34008927
  REMARK    GeneRIF: KIN17 promotes tumor metastasis by activating EMT
            signaling in luminal-A breast cancer.
REFERENCE   4  (residues 1 to 393)
  AUTHORS   Jiang QG, Xiong CF and Lv YX.
  TITLE     Kin17 facilitates thyroid cancer cell proliferation, migration, and
            invasion by activating p38 MAPK signaling pathway
  JOURNAL   Mol Cell Biochem 476 (2), 727-739 (2021)
   PUBMED   33201383
  REMARK    GeneRIF: Kin17 facilitates thyroid cancer cell proliferation,
            migration, and invasion by activating p38 MAPK signaling pathway.
            Erratum:[Mol Cell Biochem. 2021 Jan 6;:. PMID: 33405088]
REFERENCE   5  (residues 1 to 393)
  AUTHORS   Pattaro Junior JR, Caruso IP, de Lima Neto QA, Duarte Junior FF,
            Dos Santos Rando F, Gerhardt ECM, Fernandez MA and Seixas FAV.
  TITLE     Biophysical characterization and molecular phylogeny of human KIN
            protein
  JOURNAL   Eur Biophys J 48 (7), 645-657 (2019)
   PUBMED   31309277
  REMARK    GeneRIF: characterization and molecular phylogeny of human KIN
            protein
REFERENCE   6  (residues 1 to 393)
  AUTHORS   Kannouche P, Mauffrey P, Pinon-Lataillade G, Mattei MG, Sarasin A,
            Daya-Grosjean L and Angulo JF.
  TITLE     Molecular cloning and characterization of the human KIN17 cDNA
            encoding a component of the UVC response that is conserved among
            metazoans
  JOURNAL   Carcinogenesis 21 (9), 1701-1710 (2000)
   PUBMED   10964102
REFERENCE   7  (residues 1 to 393)
  AUTHORS   Blattner C, Kannouche P, Litfin M, Bender K, Rahmsdorf HJ, Angulo
            JF and Herrlich P.
  TITLE     UV-Induced stabilization of c-fos and other short-lived mRNAs
  JOURNAL   Mol Cell Biol 20 (10), 3616-3625 (2000)
   PUBMED   10779351
REFERENCE   8  (residues 1 to 393)
  AUTHORS   Kannouche P and Angulo JF.
  TITLE     Overexpression of kin17 protein disrupts nuclear morphology and
            inhibits the growth of mammalian cells
  JOURNAL   J Cell Sci 112 (Pt 19), 3215-3224 (1999)
   PUBMED   10504327
REFERENCE   9  (residues 1 to 393)
  AUTHORS   Biard DS, Saintigny Y, Maratrat M, Vozenin MC, Martin M, Daburon F
            and Angulo JF.
  TITLE     Differential expression of the HsKin17 protein during
            differentiation of in vitro reconstructed human skin
  JOURNAL   Arch Dermatol Res 289 (8), 448-456 (1997)
   PUBMED   9266022
REFERENCE   10 (residues 1 to 393)
  AUTHORS   Angulo JF, Rouer E, Mazin A, Mattei MG, Tissier A, Horellou P,
            Benarous R and Devoret R.
  TITLE     Identification and expression of the cDNA of KIN17, a zinc-finger
            gene located on mouse chromosome 2, encoding a new DNA-binding
            protein
  JOURNAL   Nucleic Acids Res 19 (19), 5117-5123 (1991)
   PUBMED   1923796
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK301789.1, AJ005273.1,
            AL158044.17 and AA768850.1.
            
            Summary: The protein encoded by this gene is a nuclear protein that
            forms intranuclear foci during proliferation and is redistributed
            in the nucleoplasm during the cell cycle. Short-wave ultraviolet
            light provokes the relocalization of the protein, suggesting its
            participation in the cellular response to DNA damage. Originally
            selected based on protein-binding with RecA antibodies, the mouse
            protein presents a limited similarity with a functional domain of
            the bacterial RecA protein, a characteristic shared by this human
            ortholog. Alternative splicing of this gene results in multiple
            transcript variants. [provided by RefSeq, Jan 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the supported protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.8556.1,
                                           SRR1660805.187703.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379562.9/ ENSP00000368881.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..393
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p14"
     Protein         1..393
                     /product="DNA/RNA-binding protein KIN17"
                     /note="binding to curved DNA; KIN, antigenic determinant
                     of recA protein homolog"
                     /calculated_mol_wt=45243
     Region          25..54
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     Region          51..160
                     /region_name="Winged helix-turn-helix (wHTH)"
                     /note="propagated from UniProtKB/Swiss-Prot (O60870.2)"
     Region          55..177
                     /region_name="Kin17_mid"
                     /note="Domain of Kin17 curved DNA-binding protein;
                     pfam10357"
                     /db_xref="CDD:431229"
     Site            135
                     /site_type="methylation"
                     /note="N6,N6,N6-trimethyllysine, by METTL22, in vitro.
                     /evidence=ECO:0000269|PubMed:23349634,
                     ECO:0007744|PubMed:24129315; N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (O60870.2)"
     Region          209..260
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60870.2)"
     Region          276..328
                     /region_name="KN17_SH3"
                     /note="KN17 SH3-like C-terminal domain; pfam18131"
                     /db_xref="CDD:407963"
     Region          284..334
                     /region_name="C-terminal subdomain A.
                     /evidence=ECO:0000269|PubMed:17045609"
                     /note="propagated from UniProtKB/Swiss-Prot (O60870.2)"
     Region          339..392
                     /region_name="KOW_KIN17"
                     /note="KOW_Kin17 is a RNA-binding motif; cd13155"
                     /db_xref="CDD:240519"
     Region          340..391
                     /region_name="C-terminal subdomain B.
                     /evidence=ECO:0000269|PubMed:17045609"
                     /note="propagated from UniProtKB/Swiss-Prot (O60870.2)"
     CDS             1..393
                     /gene="KIN"
                     /gene_synonym="BTCD; KIN17; Rts2"
                     /coded_by="NM_012311.4:61..1242"
                     /db_xref="CCDS:CCDS7080.1"
                     /db_xref="GeneID:22944"
                     /db_xref="HGNC:HGNC:6327"
                     /db_xref="MIM:601720"
ORIGIN      
        1 mgksdfltpk aianrikskg lqklrwycqm cqkqcrdeng fkchcmsesh qrqlllasen
       61 pqqfmdyfse efrndflell rrrfgtkrvh nnivyneyis hrehihmnat qwetltdftk
      121 wlgreglckv detpkgwyiq yidrdpetir rqlelekkkk qdlddeekta kfieeqvrrg
      181 legkeqevpt ftelsrende ekvtfnlskg acsssgatss ksstlgpsal ktigssasvk
      241 rkessqsstq skekkkkksa ldeimeieee kkrtartdyw lqpeiivkii tkklgekyhk
      301 kkaivkevid kytavvkmid sgdklkldqt hletvipapg krilvlnggy rgnegtlesi
      361 nektfsativ ietgplkgrr vegiqyedis kla
//
LOCUS       NP_647480                589 aa            linear   PRI 14-MAR-2023
DEFINITION  vesicular glutamate transporter 3 isoform 1 [Homo sapiens].
ACCESSION   NP_647480
VERSION     NP_647480.1
DBSOURCE    REFSEQ: accession NM_139319.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 589)
  AUTHORS   Qi Y, Gong S, Liu K and Song Y.
  TITLE     The c.824C>A and c.616dupA mutations in the SLC17a8 gene are
            associated with auditory neuropathy and lead to defective
            expression of VGluT3
  JOURNAL   Neuroreport 32 (11), 949-956 (2021)
   PUBMED   34145196
  REMARK    GeneRIF: The c.824C>A and c.616dupA mutations in the SLC17a8 gene
            are associated with auditory neuropathy and lead to defective
            expression of VGluT3.
REFERENCE   2  (residues 1 to 589)
  AUTHORS   Cheret C, Ganzella M, Preobraschenski J, Jahn R and Ahnert-Hilger
            G.
  TITLE     Vesicular Glutamate Transporters (SLCA17 A6, 7, 8) Control Synaptic
            Phosphate Levels
  JOURNAL   Cell Rep 34 (2), 108623 (2021)
   PUBMED   33440152
REFERENCE   3  (residues 1 to 589)
  AUTHORS   Ibrahim KS, Abd-Elrahman KS, El Mestikawy S and Ferguson SSG.
  TITLE     Targeting Vesicular Glutamate Transporter Machinery: Implications
            on Metabotropic Glutamate Receptor 5 Signaling and Behavior
  JOURNAL   Mol Pharmacol 98 (4), 314-327 (2020)
   PUBMED   32873747
  REMARK    GeneRIF: Targeting Vesicular Glutamate Transporter Machinery:
            Implications on Metabotropic Glutamate Receptor 5 Signaling and
            Behavior.
            Review article
REFERENCE   4  (residues 1 to 589)
  AUTHORS   Ryu N, Lee S, Park HJ, Lee B, Kwon TJ, Bok J, Park CI, Lee KY, Baek
            JI and Kim UK.
  TITLE     Identification of a novel splicing mutation within SLC17A8 in a
            Korean family with hearing loss by whole-exome sequencing
  JOURNAL   Gene 627, 233-238 (2017)
   PUBMED   28647561
  REMARK    GeneRIF: Novel pathogenic splicing mutation in SLC17A8 gene
            identified in a family with hearing loss.
REFERENCE   5  (residues 1 to 589)
  AUTHORS   Ramet L, Zimmermann J, Bersot T, Poirel O, De Gois S, Silm K, Sakae
            DY, Mansouri-Guilani N, Bourque MJ, Trudeau LE, Pietrancosta N,
            Daumas S, Bernard V, Rosenmund C and El Mestikawy S.
  TITLE     Characterization of a Human Point Mutation of VGLUT3 (p.A211V) in
            the Rodent Brain Suggests a Nonuniform Distribution of the
            Transporter in Synaptic Vesicles
  JOURNAL   J Neurosci 37 (15), 4181-4199 (2017)
   PUBMED   28314816
  REMARK    GeneRIF: A point mutation in VGLUT3 dramatically reduces its
            expression in synaptic terminals without altering its function.
REFERENCE   6  (residues 1 to 589)
  AUTHORS   Fremeau RT Jr, Voglmaier S, Seal RP and Edwards RH.
  TITLE     VGLUTs define subsets of excitatory neurons and suggest novel roles
            for glutamate
  JOURNAL   Trends Neurosci 27 (2), 98-103 (2004)
   PUBMED   15102489
  REMARK    Review article
REFERENCE   7  (residues 1 to 589)
  AUTHORS   Takamori S, Malherbe P, Broger C and Jahn R.
  TITLE     Molecular cloning and functional characterization of human
            vesicular glutamate transporter 3
  JOURNAL   EMBO Rep 3 (8), 798-803 (2002)
   PUBMED   12151341
  REMARK    GeneRIF: human vesicular glutamate transporter 3 was cloned, shows
            72% identity to both hVGLUT1 and hVGLUT2, and its expression in
            brain overlaps with hVGLUT1 and hVGLUT2
REFERENCE   8  (residues 1 to 589)
  AUTHORS   Gras C, Herzog E, Bellenchi GC, Bernard V, Ravassard P, Pohl M,
            Gasnier B, Giros B and El Mestikawy S.
  TITLE     A third vesicular glutamate transporter expressed by cholinergic
            and serotoninergic neurons
  JOURNAL   J Neurosci 22 (13), 5442-5451 (2002)
   PUBMED   12097496
REFERENCE   9  (residues 1 to 589)
  AUTHORS   Greene CC, McMillan PM, Barker SE, Kurnool P, Lomax MI, Burmeister
            M and Lesperance MM.
  TITLE     DFNA25, a novel locus for dominant nonsyndromic hereditary hearing
            impairment, maps to 12q21-24
  JOURNAL   Am J Hum Genet 68 (1), 254-260 (2001)
   PUBMED   11115382
REFERENCE   10 (residues 1 to 589)
  AUTHORS   Shearer,A.E., Hildebrand,M.S. and Smith,R.J.H.
  TITLE     Hereditary Hearing Loss and Deafness Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026110.42, AK128319.1,
            AC126308.6 and AJ459241.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a vesicular glutamate transporter. The
            encoded protein transports the neurotransmitter glutamate into
            synaptic vesicles before it is released into the synaptic cleft.
            Mutations in this gene are the cause of autosomal-dominant
            nonsyndromic type 25 deafness. Alternate splicing results in
            multiple transcript variants.[provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK128319.1, AJ459241.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267766, SAMN03465418
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000323346.10/ ENSP00000316909.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..589
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     Protein         1..589
                     /product="vesicular glutamate transporter 3 isoform 1"
                     /note="vesicular glutamate transporter 3; solute carrier
                     family 17 (vesicular glutamate transporter), member 8;
                     solute carrier family 17 (sodium-dependent inorganic
                     phosphate cotransporter), member 8"
                     /calculated_mol_wt=64860
     Region          40..61
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NDX2.1)"
     Site            77..97
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NDX2.1)"
     Region          79..502
                     /region_name="MFS_SLC17A6_7_8_VGluT"
                     /note="Solute carrier family 17 members 6, 7, and 8 (also
                     called Vesicular glutamate transporters) of the Major
                     Facilitator Superfamily of transporters; cd17382"
                     /db_xref="CDD:340940"
     Site            order(89..90,93..94,97,144,196..197,199..201,204,224,
                     227..228,231,323,326..327,330..332,335,363,367,425..426,
                     430,434,450,453..454,457..458,461)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:340940"
     Site            106
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NDX2.1)"
     Site            131..151
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NDX2.1)"
     Site            154..174
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NDX2.1)"
     Site            183..203
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NDX2.1)"
     Site            222..242
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NDX2.1)"
     Site            250..270
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NDX2.1)"
     Site            315..335
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NDX2.1)"
     Site            354..374
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NDX2.1)"
     Site            391..411
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NDX2.1)"
     Site            414..434
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NDX2.1)"
     Site            448..468
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NDX2.1)"
     Site            482..502
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NDX2.1)"
     Region          559..589
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NDX2.1)"
     CDS             1..589
                     /gene="SLC17A8"
                     /gene_synonym="DFNA25; VGLUT3"
                     /coded_by="NM_139319.3:319..2088"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9077.1"
                     /db_xref="GeneID:246213"
                     /db_xref="HGNC:HGNC:20151"
                     /db_xref="MIM:607557"
ORIGIN      
        1 mpfkafdtfk ekilkpgkeg vknavgdslg ilqrkidgtt eeednielne egrpvqtsrp
       61 spplcdchcc glpkryiiai msglgfcisf gircnlgvai vemvnnstvy vdgkpeiqta
      121 qfnwdpetvg lihgsffwgy imtqipggfi snkfaanrvf gaaifltstl nmfipsaarv
      181 hygcvmcvri lqglvegvty pachgmwskw applersrla ttsfcgsyag avvamplagv
      241 lvqyigwssv fyiygmfgii wymfwllqay ecpaahptis neektyiets igeganvvsl
      301 skfstpwkrf ftslpvyaii vanfcrswtf ylllisqpay feevfgfais kvgllsavph
      361 mvmtivvpig gqladylrsr qiltttavrk imncggfgme atlllvvgfs htkgvaisfl
      421 vlavgfsgfa isgfnvnhld iapryasilm gisngvgtls gmvcplivga mtrhktreew
      481 qnvfliaalv hysgvifygv fasgekqewa dpenlseekc giidqdelae eielnhesfa
      541 spkkkmsyga tsqncevqkk ewkgqrgatl deeeltsyqn eernfstis
//
LOCUS       NP_001339851             334 aa            linear   PRI 15-MAR-2023
DEFINITION  N-sulphoglucosamine sulphohydrolase isoform 3 precursor [Homo
            sapiens].
ACCESSION   NP_001339851 XP_011523429
VERSION     NP_001339851.1
DBSOURCE    REFSEQ: accession NM_001352922.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 334)
  AUTHORS   Yi F, Hong X, Kumar AB, Zong C, Boons GJ, Scott CR, Turecek F,
            Robinson BH and Gelb MH.
  TITLE     Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in
            dried blood spots (DBS) by tandem mass spectrometry
  JOURNAL   Mol Genet Metab 125 (1-2), 59-63 (2018)
   PUBMED   30006231
  REMARK    GeneRIF: Sulfamidase activity in 238 random newborns was well
            elevated compared to the range of activities measured in dried
            blood spots from 8 patients previously confirmed to have
            mucopolysaccharidosis III-A.
REFERENCE   2  (residues 1 to 334)
  AUTHORS   Truxal KV, Fu H, McCarty DM, McNally KA, Kunkler KL, Zumberge NA,
            Martin L, Aylward SC, Alfano LN, Berry KM, Lowes LP, Corridore M,
            McKee C, McBride KL and Flanigan KM.
  TITLE     A prospective one-year natural history study of
            mucopolysaccharidosis types IIIA and IIIB: Implications for
            clinical trial design
  JOURNAL   Mol Genet Metab 119 (3), 239-248 (2016)
   PUBMED   27590925
  REMARK    GeneRIF: CSF enzyme activity levels for either SGSH (in MPS IIIA
            subjects) or NAGLU (in MPS IIIB) significantly differed from normal
            controls. Several other behavioral or functional measures were
            found to be uninformative in this population, including timed
            functional motor tests.
REFERENCE   3  (residues 1 to 334)
  AUTHORS   Wilkin J, Kerr NC, Byrd KW, Ward JC and Iannaccone A.
  TITLE     Characterization of a Case of Pigmentary Retinopathy in Sanfilippo
            Syndrome Type IIIA Associated with Compound Heterozygous Mutations
            in the SGSH Gene
  JOURNAL   Ophthalmic Genet 37 (2), 217-227 (2016)
   PUBMED   26331342
  REMARK    GeneRIF: We have identified ocular features of a patient with
            Sanfilippo syndrome type IIIA harboring a novel SGHS mutation that
            were not previously known to occur in this disease - namely, a
            progressive retinopathy with distinctive features, cystic macular
            changes responsive to carbonic anhydrase inhibitors, and complex
            electroretinographic abnormalities consistent with postreceptoral
            dysfunction.
REFERENCE   4  (residues 1 to 334)
  AUTHORS   Duncan FJ, Naughton BJ, Zaraspe K, Murrey DA, Meadows AS, Clark KR,
            Newsom DE, White P, Fu H and McCarty DM.
  TITLE     Broad functional correction of molecular impairments by systemic
            delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice
  JOURNAL   Mol Ther 23 (4), 638-647 (2015)
   PUBMED   25592334
  REMARK    GeneRIF: results demonstrate that a single systemic scAAVrh74-hSGSH
            delivery mediated efficient restoration of SGSH activity and
            resulted in a near complete correction of MPS IIIA molecular
            pathology
REFERENCE   5  (residues 1 to 334)
  AUTHORS   Sidhu NS, Schreiber K, Propper K, Becker S, Uson I, Sheldrick GM,
            Gartner J, Kratzner R and Steinfeld R.
  TITLE     Structure of sulfamidase provides insight into the molecular
            pathology of mucopolysaccharidosis IIIA
  JOURNAL   Acta Crystallogr D Biol Crystallogr 70 (Pt 5), 1321-1335 (2014)
   PUBMED   24816101
  REMARK    GeneRIF: The crystal structure of glycosylated sulfamidase provides
            insight into the diverse effects of pathogenic mutations on
            sulfamidase function in mucopolysaccharidosis type IIIA.
REFERENCE   6  (residues 1 to 334)
  AUTHORS   Blanch L, Weber B, Guo XH, Scott HS and Hopwood JJ.
  TITLE     Molecular defects in Sanfilippo syndrome type A
  JOURNAL   Hum Mol Genet 6 (5), 787-791 (1997)
   PUBMED   9158154
REFERENCE   7  (residues 1 to 334)
  AUTHORS   Karageorgos LE, Guo XH, Blanch L, Weber B, Anson DS, Scott HS and
            Hopwood JJ.
  TITLE     Structure and sequence of the human sulphamidase gene
  JOURNAL   DNA Res 3 (4), 269-271 (1996)
   PUBMED   8946167
REFERENCE   8  (residues 1 to 334)
  AUTHORS   Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E,
            Sutherland GR, Morris CP and Hopwood JJ.
  TITLE     Cloning of the sulphamidase gene and identification of mutations in
            Sanfilippo A syndrome
  JOURNAL   Nat Genet 11 (4), 465-467 (1995)
   PUBMED   7493035
REFERENCE   9  (residues 1 to 334)
  AUTHORS   Wagner,V.F. and Northrup,H.
  TITLE     Mucopolysaccharidosis Type III
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31536183
REFERENCE   10 (residues 1 to 334)
  AUTHORS   van de Kamp,J.J., Niermeijer,M.F., von Figura,K. and Giesberts,M.A.
  TITLE     Genetic heterogeneity and clinical variability in the Sanfilippo
            syndrome (types A, B, and C)
  JOURNAL   Clin Genet 20 (2), 152-160 (1981)
   PUBMED   6796310
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC123764.18, AC087741.18 and
            BP198470.1.
            On Jun 24, 2017 this sequence version replaced XP_011523429.1.
            
            Summary: This gene encodes the enzyme sulfamidase; one of several
            enzymes involved in the lysosomal degradation of heparan sulfate.
            Mutations in this gene are associated with the lysosomal storage
            disease mucopolysaccaridosis IIIA, also known as Sanfilippo
            syndrome A, which results from impaired degradation of heparan
            sulfate. Transcripts of varying sizes have been reported but their
            biological validity has not been determined. [provided by RefSeq,
            Jun 2017].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.214274.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..334
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..334
                     /product="N-sulphoglucosamine sulphohydrolase isoform 3
                     precursor"
                     /EC_number="3.10.1.1"
                     /note="heparan sulfate sulfatase; sulfoglucosamine
                     sulfamidase; sulphamidase; mucopolysaccharidosis type
                     IIIA"
                     /calculated_mol_wt=34627
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2034
     Region          24..>316
                     /region_name="SGSH"
                     /note="N-sulfoglucosamine sulfohydrolase (SGSH;
                     sulfamidase); cd16027"
                     /db_xref="CDD:293751"
     Site            order(31..32,70,123,125,181,273..274)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:293751"
     Site            order(31..32,70,123,125,181,274)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:293751"
     Site            41
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:24816101,
                     ECO:0007744|PDB:4MHX, ECO:0007744|PDB:4MIV; propagated
                     from UniProtKB/Swiss-Prot (P51688.1)"
     Site            142
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P51688.1)"
     Site            151
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:24816101,
                     ECO:0007744|PDB:4MHX, ECO:0007744|PDB:4MIV; propagated
                     from UniProtKB/Swiss-Prot (P51688.1)"
     Site            264
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:24816101, ECO:0007744|PDB:4MHX,
                     ECO:0007744|PDB:4MIV; propagated from UniProtKB/Swiss-Prot
                     (P51688.1)"
     CDS             1..334
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /coded_by="NM_001352922.2:21..1025"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="GeneID:6448"
                     /db_xref="HGNC:HGNC:10818"
                     /db_xref="MIM:605270"
ORIGIN      
        1 mscpvpacca lllvlglcra rprnalllla ddggfesgay nnsaiatphl dalarrsllf
       61 rnaftsvssc spsraslltg lpqhqngmyg lhqdvhhfns fdkvrslpll lsqagvrtgi
      121 igkkhvgpet vypfdfayte engsvlqvgr nitrikllvr kflqtqddrp fflyvafhdp
      181 hrcghsqpqy gtfcekfgng esgmgripdw tpqaydpldv lvpyfvpntp aaradlaaqy
      241 ttvgrmdqgv glvlqelrda gvlndtlvif tsdngipfps grtnlywpgt aepllvsspe
      301 hpkrwgqvse ayvslleekn eaqrgevscs glhs
//
LOCUS       NP_056230                127 aa            linear   PRI 16-MAR-2023
DEFINITION  mitochondrial pyruvate carrier 2 [Homo sapiens].
ACCESSION   NP_056230
VERSION     NP_056230.1
DBSOURCE    REFSEQ: accession NM_015415.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 127)
  AUTHORS   Pujol C, Lebigot E, Gaignard P, Galai S, Kraoua I, Bault JP, Dard
            R, Youssef-Turki IB, Omar S, Boutron A, Wai T and Slama A.
  TITLE     MPC2 variants disrupt mitochondrial pyruvate metabolism and cause
            an early-onset mitochondriopathy
  JOURNAL   Brain 146 (3), 858-864 (2023)
   PUBMED   36417180
  REMARK    GeneRIF: MPC2 variants disrupt mitochondrial pyruvate metabolism
            and cause an early-onset mitochondriopathy.
REFERENCE   2  (residues 1 to 127)
  AUTHORS   Xu L, Phelix CF and Chen LY.
  TITLE     Structural Insights into the Human Mitochondrial Pyruvate Carrier
            Complexes
  JOURNAL   J Chem Inf Model 61 (11), 5614-5625 (2021)
   PUBMED   34664967
  REMARK    GeneRIF: Structural Insights into the Human Mitochondrial Pyruvate
            Carrier Complexes.
REFERENCE   3  (residues 1 to 127)
  AUTHORS   Kuerbanjiang M, Gu L, Xu C, Xu WT, Wen S, Xue H and Xu Q.
  TITLE     Decreased Expression of MPC2 Contributes to Aerobic Glycolysis and
            Colorectal Cancer Proliferation by Activating mTOR Pathway
  JOURNAL   J Immunol Res 2021, 6618837 (2021)
   PUBMED   33791391
  REMARK    GeneRIF: Decreased Expression of MPC2 Contributes to Aerobic
            Glycolysis and Colorectal Cancer Proliferation by Activating mTOR
            Pathway.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 127)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 127)
  AUTHORS   Zangari J, Petrelli F, Maillot B and Martinou JC.
  TITLE     The Multifaceted Pyruvate Metabolism: Role of the Mitochondrial
            Pyruvate Carrier
  JOURNAL   Biomolecules 10 (7), 1068 (2020)
   PUBMED   32708919
  REMARK    GeneRIF: The Multifaceted Pyruvate Metabolism: Role of the
            Mitochondrial Pyruvate Carrier.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 127)
  AUTHORS   Bricker DK, Taylor EB, Schell JC, Orsak T, Boutron A, Chen YC, Cox
            JE, Cardon CM, Van Vranken JG, Dephoure N, Redin C, Boudina S, Gygi
            SP, Brivet M, Thummel CS and Rutter J.
  TITLE     A mitochondrial pyruvate carrier required for pyruvate uptake in
            yeast, Drosophila, and humans
  JOURNAL   Science 337 (6090), 96-100 (2012)
   PUBMED   22628558
REFERENCE   7  (residues 1 to 127)
  AUTHORS   Shi Y, Li Z, Xu Q, Wang T, Li T, Shen J, Zhang F, Chen J, Zhou G,
            Ji W, Li B, Xu Y, Liu D, Wang P, Yang P, Liu B, Sun W, Wan C, Qin
            S, He G, Steinberg S, Cichon S, Werge T, Sigurdsson E, Tosato S,
            Palotie A, Nothen MM, Rietschel M, Ophoff RA, Collier DA, Rujescu
            D, Clair DS, Stefansson H, Stefansson K, Ji J, Wang Q, Li W, Zheng
            L, Zhang H, Feng G and He L.
  TITLE     Common variants on 8p12 and 1q24.2 confer risk of schizophrenia
  JOURNAL   Nat Genet 43 (12), 1224-1227 (2011)
   PUBMED   22037555
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 127)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   9  (residues 1 to 127)
  AUTHORS   Ehret GB, O'Connor AA, Weder A, Cooper RS and Chakravarti A.
  TITLE     Follow-up of a major linkage peak on chromosome 1 reveals
            suggestive QTLs associated with essential hypertension: GenNet
            study
  JOURNAL   Eur J Hum Genet 17 (12), 1650-1657 (2009)
   PUBMED   19536175
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (residues 1 to 127)
  AUTHORS   Tsou,A.P., Lai,C., Danielson,P., Noonan,D.J. and Sutcliffe,J.G.
  TITLE     Structural characterization of a heterogeneous family of rat brain
            mRNAs
  JOURNAL   Mol Cell Biol 6 (3), 768-778 (1986)
   PUBMED   3022128
  REMARK    GeneRIF: characterization of the rat ortholog
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            KF455056.1, AL554033.3 and Z97876.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL554033.3, ERR279865.1488.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..127
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.2"
     Protein         1..127
                     /product="mitochondrial pyruvate carrier 2"
                     /note="brain protein 44"
                     /calculated_mol_wt=14148
     Region          27..125
                     /region_name="MPC"
                     /note="Uncharacterized protein family (UPF0041);
                     pfam03650"
                     /db_xref="CDD:427425"
     Site            41..61
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95563.1)"
     Site            73..90
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95563.1)"
     Site            96..115
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O95563.1)"
     CDS             1..127
                     /gene="MPC2"
                     /gene_synonym="BRP44; SLC54A2"
                     /coded_by="NM_015415.3:123..506"
                     /db_xref="CCDS:CCDS1266.1"
                     /db_xref="GeneID:25874"
                     /db_xref="HGNC:HGNC:24515"
                     /db_xref="MIM:614737"
ORIGIN      
        1 msaagarglr atyhrlldkv elmlpeklrp lynhpagprt vffwapimkw glvcagladm
       61 arpaeklsta qsavlmatgf iwsryslvii pknwslfavn ffvgaagasq lfriwrynqe
      121 lkakahk
//
LOCUS       NP_660320                313 aa            linear   PRI 17-MAR-2023
DEFINITION  hemojuvelin isoform b [Homo sapiens].
ACCESSION   NP_660320
VERSION     NP_660320.3
DBSOURCE    REFSEQ: accession NM_145277.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 313)
  AUTHORS   Barton JC, Wiener HW and Acton RT.
  TITLE     Estimates of West African Ancestry in African Americans Using
            Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2
  JOURNAL   Genet Test Mol Biomarkers 26 (2), 96-102 (2022)
   PUBMED   35225679
  REMARK    GeneRIF: Estimates of West African Ancestry in African Americans
            Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.
REFERENCE   2  (residues 1 to 313)
  AUTHORS   Hernandez G, Ferrer-Cortes X, Venturi V, Musri M, Pilquil MF,
            Torres PMM, Rodriguez IH, Minguez MAR, Kelleher NJ, Pelucchi S,
            Piperno A, Alberca EP, Ricos GG, Giro EC, Perez-Montero S, Tornador
            C, Villa-Freixa J and Sanchez M.
  TITLE     New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related
            Hereditary Hemochromatosis
  JOURNAL   Genes (Basel) 12 (12), 1980 (2021)
   PUBMED   34946929
  REMARK    GeneRIF: New Mutations in HFE2 and TFR2 Genes Causing Non
            HFE-Related Hereditary Hemochromatosis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 313)
  AUTHORS   Young GH, Tang SC, Wu VC, Wang KC, Nong JY, Huang PY, Hu CJ, Chiou
            HY, Jeng JS and Hsu CY.
  TITLE     The functional role of hemojuvelin in acute ischemic stroke
  JOURNAL   J Cereb Blood Flow Metab 40 (6), 1316-1327 (2020)
   PUBMED   31307288
  REMARK    GeneRIF: The functional role of hemojuvelin in acute ischemic
            stroke.
REFERENCE   4  (residues 1 to 313)
  AUTHORS   Zhang P, He J, Wang F, Gong J, Wang L, Wu Q, Li W, Liu H, Wang J,
            Zhang K, Li M, Huang X, Pu C, Li Y, Jiang F, Wang F, Min J and Chen
            X.
  TITLE     Hemojuvelin is a novel suppressor for Duchenne muscular dystrophy
            and age-related muscle wasting
  JOURNAL   J Cachexia Sarcopenia Muscle 10 (3), 557-573 (2019)
   PUBMED   30884219
  REMARK    GeneRIF: HJV was significantly downregulated in the muscles of
            Duchenne muscular dystrophy patients as well as in those of aged
            humans.
REFERENCE   5  (residues 1 to 313)
  AUTHORS   Onofre C, Tome F, Barbosa C, Silva AL and Romao L.
  TITLE     Expression of human Hemojuvelin (HJV) is tightly regulated by two
            upstream open reading frames in HJV mRNA that respond to iron
            overload in hepatic cells
  JOURNAL   Mol Cell Biol 35 (8), 1376-1389 (2015)
   PUBMED   25666510
  REMARK    GeneRIF: The study demonstrates that the two upstream open reading
            frames (with 28 and 19 codons) present in the 5' UTR of the human
            HJV mRNA have the ability to significantly decrease translational
            efficiency under normal conditions.
REFERENCE   6  (residues 1 to 313)
  AUTHORS   Lee PL, Beutler E, Rao SV and Barton JC.
  TITLE     Genetic abnormalities and juvenile hemochromatosis: mutations of
            the HJV gene encoding hemojuvelin
  JOURNAL   Blood 103 (12), 4669-4671 (2004)
   PUBMED   14982867
  REMARK    GeneRIF: Various amino acid substitutions identified in
            hemochromatosis.
REFERENCE   7  (residues 1 to 313)
  AUTHORS   Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL,
            Dube MP, Andres L, MacFarlane J, Sakellaropoulos N, Politou M,
            Nemeth E, Thompson J, Risler JK, Zaborowska C, Babakaiff R,
            Radomski CC, Pape TD, Davidas O, Christakis J, Brissot P, Lockitch
            G, Ganz T, Hayden MR and Goldberg YP.
  TITLE     Mutations in HFE2 cause iron overload in chromosome 1q-linked
            juvenile hemochromatosis
  JOURNAL   Nat Genet 36 (1), 77-82 (2004)
   PUBMED   14647275
  REMARK    GeneRIF: Here we report the positional cloning of the locus
            associated with juvenile hemochromatosis and the identification of
            a new gene crucial to iron metabolism.
REFERENCE   8  (residues 1 to 313)
  AUTHORS   Roetto A, Totaro A, Cazzola M, Cicilano M, Bosio S, D'Ascola G,
            Carella M, Zelante L, Kelly AL, Cox TM, Gasparini P and Camaschella
            C.
  TITLE     Juvenile hemochromatosis locus maps to chromosome 1q
  JOURNAL   Am J Hum Genet 64 (5), 1388-1393 (1999)
   PUBMED   10205270
REFERENCE   9  (residues 1 to 313)
  AUTHORS   Feder JN, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N,
            Tsuchihashi Z, Sigal E, Bjorkman PJ and Schatzman RC.
  TITLE     The hemochromatosis gene product complexes with the transferrin
            receptor and lowers its affinity for ligand binding
  JOURNAL   Proc Natl Acad Sci U S A 95 (4), 1472-1477 (1998)
   PUBMED   9465039
REFERENCE   10 (residues 1 to 313)
  AUTHORS   Piperno,A., Bertola,F. and Bentivegna,A.
  TITLE     Juvenile Hemochromatosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301349
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB035674.1, AK124273.1 and
            BC085604.1.
            On Feb 27, 2004 this sequence version replaced NP_660320.2.
            
            Summary: The product of this gene is involved in iron metabolism.
            It may be a component of the signaling pathway which activates
            hepcidin or it may act as a modulator of hepcidin expression. It
            could also represent the cellular receptor for hepcidin. Two uORFs
            in the 5' UTR negatively regulate the expression and activity of
            the encoded protein. Alternatively spliced transcript variants
            encoding different isoforms have been identified for this gene.
            Defects in this gene are the cause of hemochromatosis type 2A, also
            called juvenile hemochromatosis (JH). JH is an early-onset
            autosomal recessive disorder due to severe iron overload resulting
            in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis
            and cardiomyopathy, occurring typically before age of 30. [provided
            by RefSeq, Oct 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK223575.1, AK092682.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            regulatory uORF :: PMID: 25666510
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.1"
     Protein         1..313
                     /product="hemojuvelin isoform b"
                     /note="haemojuvelin; repulsive guidance molecule c;
                     hemochromatosis type 2 protein; hemochromatosis type 2
                     (juvenile); RGM domain family member C; hemojuvelin BMP
                     coreceptor"
                     /calculated_mol_wt=33548
     Region          <1..112
                     /region_name="RGM_N"
                     /note="Repulsive guidance molecule (RGM) N-terminus;
                     pfam06535"
                     /db_xref="CDD:428994"
     Region          117..276
                     /region_name="RGM_C"
                     /note="Repulsive guidance molecule (RGM) C-terminus;
                     pfam06534"
                     /db_xref="CDD:428993"
     CDS             1..313
                     /gene="HJV"
                     /gene_synonym="HFE2; HFE2A; JH; RGMC"
                     /coded_by="NM_145277.5:392..1333"
                     /note="isoform b is encoded by transcript variant b"
                     /db_xref="CCDS:CCDS72878.1"
                     /db_xref="GeneID:148738"
                     /db_xref="HGNC:HGNC:4887"
                     /db_xref="MIM:608374"
ORIGIN      
        1 miqhncsrqg ptapppprgp alpgagsglp apdpcdyegr fsrlhgrppg flhcasfgdp
       61 hvrsfhhhfh tcrvqgawpl ldndflfvqa tsspmalgan atatrkltii fknmqecidq
      121 kvyqaevdnl pvafedgsin ggdrpggssl siqtanpgnh veiqaayigt tiiirqtagq
      181 lsfsikvaed vamafsaeqd lqlcvggcpp sqrlsrsern rrgaitidta rrlckeglpv
      241 edayfhscvf dvlisgdpnf tvaaqaaled araflpdlek lhlfpsdagv plssatllap
      301 llsglfvlwl ciq
//
LOCUS       NP_001372109             904 aa            linear   PRI 18-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 36 isoform 5 [Homo sapiens].
ACCESSION   NP_001372109
VERSION     NP_001372109.1
DBSOURCE    REFSEQ: accession NM_001385180.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 904)
  AUTHORS   Zhang W, Luo J, Xiao Z, Zang Y, Li X, Zhou Y, Zhou J, Tian Z, Zhu J
            and Zhao X.
  TITLE     USP36 facilitates esophageal squamous carcinoma progression via
            stabilizing YAP
  JOURNAL   Cell Death Dis 13 (12), 1021 (2022)
   PUBMED   36470870
  REMARK    GeneRIF: USP36 facilitates esophageal squamous carcinoma
            progression via stabilizing YAP.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 904)
  AUTHORS   Ling H, Cao CH, Han K, Lv YR, Ma XD, Cao JH, Chen JW, Li S, Lin JL,
            Fang YJ, Pan ZZ, Xie D and Wang FW.
  TITLE     CEP63 upregulates YAP1 to promote colorectal cancer progression
            through stabilizing RNA binding protein FXR1
  JOURNAL   Oncogene 41 (39), 4433-4445 (2022)
   PUBMED   35989368
REFERENCE   3  (residues 1 to 904)
  AUTHORS   Zhou J, Zhou J, Wu LJ, Li YY, Li MQ and Liao HQ.
  TITLE     CircRNA circUSP36 impairs the stability of NEDD4L mRNA through
            recruiting PTBP1 to enhance ULK1-mediated autophagic granulosa cell
            death
  JOURNAL   J Reprod Immunol 153, 103681 (2022)
   PUBMED   35964538
  REMARK    GeneRIF: CircRNA circUSP36 impairs the stability of NEDD4L mRNA
            through recruiting PTBP1 to enhance ULK1-mediated autophagic
            granulosa cell death.
REFERENCE   4  (residues 1 to 904)
  AUTHORS   Wang D, Li Z, Li X, Yan C, Yang H, Zhuang T, Wang X, Zang Y, Liu Z,
            Wang T, Jiang R, Su P, Zhu J and Ding Y.
  TITLE     DUB1 suppresses Hippo signaling by modulating TAZ protein
            expression in gastric cancer
  JOURNAL   J Exp Clin Cancer Res 41 (1), 219 (2022)
   PUBMED   35820928
  REMARK    GeneRIF: DUB1 suppresses Hippo signaling by modulating TAZ protein
            expression in gastric cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 904)
  AUTHORS   Sun W, Shen J, Liu J, Han K, Liang L and Gao Y.
  TITLE     Gene Signature and Prognostic Value of Ubiquitin-Specific Proteases
            Members in Hepatocellular Carcinoma and Explored the Immunological
            Role of USP36
  JOURNAL   Front Biosci (Landmark Ed) 27 (6), 190 (2022)
   PUBMED   35748266
  REMARK    GeneRIF: Gene Signature and Prognostic Value of Ubiquitin-Specific
            Proteases Members in Hepatocellular Carcinoma and Explored the
            Immunological Role of USP36.
REFERENCE   6  (residues 1 to 904)
  AUTHORS   Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI and Mann
            M.
  TITLE     Nucleolar proteome dynamics
  JOURNAL   Nature 433 (7021), 77-83 (2005)
   PUBMED   15635413
REFERENCE   7  (residues 1 to 904)
  AUTHORS   Kim MS, Yoo KJ, Kang I, Chung HM and Baek KH.
  TITLE     A novel cysteine protease HeLa DUB-1 responsible for cleaving the
            ubiquitin in human ovarian cancer cells
  JOURNAL   Int J Oncol 25 (2), 373-379 (2004)
   PUBMED   15254734
  REMARK    GeneRIF: DUB-1 is present ubuquitously within cells and has
            deubiitinating enzyme activity in vivo and in vitro.
REFERENCE   8  (residues 1 to 904)
  AUTHORS   Quesada V, Diaz-Perales A, Gutierrez-Fernandez A, Garabaya C, Cal S
            and Lopez-Otin C.
  TITLE     Cloning and enzymatic analysis of 22 novel human ubiquitin-specific
            proteases
  JOURNAL   Biochem Biophys Res Commun 314 (1), 54-62 (2004)
   PUBMED   14715245
REFERENCE   9  (residues 1 to 904)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
REFERENCE   10 (residues 1 to 904)
  AUTHORS   Scherl A, Coute Y, Deon C, Calle A, Kindbeiter K, Sanchez JC, Greco
            A, Hochstrasser D and Diaz JJ.
  TITLE     Functional proteomic analysis of human nucleolus
  JOURNAL   Mol Biol Cell 13 (11), 4100-4109 (2002)
   PUBMED   12429849
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022966.13.
            
            Summary: This gene encodes a member of the peptidase C19 or
            ubiquitin-specific protease family of cysteine proteases. Members
            of this family remove ubiquitin molecules from polyubiquitinated
            proteins. The encoded protein may deubiquitinate and stabilize the
            transcription factor c-Myc, also known as MYC, an important
            oncoprotein known to be upregulated in most human cancers. The
            encoded protease may also regulate the activation of autophagy.
            This gene exhibits elevated expression in some breast and lung
            cancers. [provided by RefSeq, Mar 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2491514.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..904
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..904
                     /product="ubiquitin carboxyl-terminal hydrolase 36 isoform
                     5"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin specific protease 36; ubiquitin
                     carboxyl-terminal hydrolase 36; ubiquitin thioesterase 36;
                     deubiquitinating enzyme 36; ubiquitin-specific-processing
                     protease 36"
                     /calculated_mol_wt=98320
     Region          <1..202
                     /region_name="Peptidase_C19"
                     /note="Peptidase C19 contains ubiquitinyl hydrolases. They
                     are intracellular peptidases that remove ubiquitin
                     molecules from polyubiquinated peptides by cleavage of
                     isopeptide bonds. They hydrolyse bonds involving the
                     carboxyl group of the C-terminal Gly...; cl02553"
                     /db_xref="CDD:351799"
     Region          <287..621
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..904
                     /gene="USP36"
                     /gene_synonym="DUB1"
                     /coded_by="NM_001385180.1:799..3513"
                     /note="isoform 5 is encoded by transcript variant 13"
                     /db_xref="GeneID:57602"
                     /db_xref="HGNC:HGNC:20062"
                     /db_xref="MIM:612543"
ORIGIN      
        1 mqkaclngca kldrqtqatt lvhqifggyl rsrvkcsvck svsdtydpyl dvaleirqaa
       61 nivralelfv kadvlsgena ymcakckkkv paskrftihr tsnvltlslk rfanfsggki
      121 tkdvgypefl nirpymsqnn gdpvmyglya vlvhsgysch aghyycyvka sngqwyqmnd
      181 slvhssnvkv vlnqqayvlf ylripgskks peglisrtgs sslpgrpsvi pdhskknign
      241 giisspltgk rqdsgtmkkp htteeigvpi srngstlglk sqngcippkl psgspspkls
      301 qtpthmptil ddpgkkvkkp appqhfsprt aqglpgtsns nssrsgsqrq gswdsrdvvl
      361 stspkllata tanghglkgn desagldrrg ssssspehsa ssdstkapqt prsgaahlcd
      421 sqetncstag hsktppsgad sktvklkspv lsntttepas tmspppakkl alsakkastl
      481 wratgndlrp pppspssdlt hpmktshpvv astwpvhrar avspapqsss rlqppfsphp
      541 tllsstpkpp gtseprscss istalpqvne dlvslphqlp easeppqsps ekrkktfvge
      601 pqrlgsetrl pqhireataa phgkrkrkkk krpedtaasa lqegqtqrqp gspmyrregq
      661 aqlpavrrqe dgtqpqvngq qvgcvtdghh assrkrrrkg aeglgeeggl hqdplrhscs
      721 pmgdgdpeam eesprkkkkk krkqetqrav eedghlkcpr sakpqdavvp essscapsan
      781 gwcpgdrmgl sqappvswng eresdvvqel lkyssdkayg rkvltwdgkm savsqdaied
      841 srqartetvv ddwdeefdrg kekkikkfkr ekrrnfnafq klqtrrnfws vthpakaasl
      901 syrr
//
LOCUS       NP_001334974             765 aa            linear   PRI 19-MAR-2023
DEFINITION  protein PTHB1 isoform 13 [Homo sapiens].
ACCESSION   NP_001334974
VERSION     NP_001334974.1
DBSOURCE    REFSEQ: accession NM_001348045.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 765)
  AUTHORS   Zhang Y, Xu M, Zhang M, Yang G and Li X.
  TITLE     A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a
            Chinese Family with Bardet-Biedl Syndrome
  JOURNAL   Biomed Res Int 2021, 4514967 (2021)
   PUBMED   34692830
  REMARK    GeneRIF: A Novel BBS9 Mutation Identified via Whole-Exome
            Sequencing in a Chinese Family with Bardet-Biedl Syndrome.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 765)
  AUTHORS   Jeziorny K, Antosik K, Jakiel P, Mlynarski W, Borowiec M and
            Zmyslowska A.
  TITLE     Next-Generation Sequencing in the Diagnosis of Patients with
            Bardet-Biedl Syndrome-New Variants and Relationship with
            Hyperglycemia and Insulin Resistance
  JOURNAL   Genes (Basel) 11 (11), 1283 (2020)
   PUBMED   33138063
  REMARK    GeneRIF: Next-Generation Sequencing in the Diagnosis of Patients
            with Bardet-Biedl Syndrome-New Variants and Relationship with
            Hyperglycemia and Insulin Resistance.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 765)
  AUTHORS   Ludlam WG, Aoba T, Cuellar J, Bueno-Carrasco MT, Makaju A, Moody
            JD, Franklin S, Valpuesta JM and Willardson BM.
  TITLE     Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9
            subcomplex
  JOURNAL   J Biol Chem 294 (44), 16385-16399 (2019)
   PUBMED   31530639
  REMARK    GeneRIF: Authors found that within this structure, BBS2 and BBS7
            form a tight dimer through a coiled-coil interaction and that BBS9
            associates with the dimer via an interaction with the alpha-helical
            domain of BBS2. Interestingly, a BBS-associated mutation of BBS2 is
            located in its alpha-helical domain at the interface between BBS2
            and BBS9, and binding experiments indicated that this mutation
            disrupts the BBS2-BBS9 interaction.
REFERENCE   4  (residues 1 to 765)
  AUTHORS   Muzammal M, Zubair M, Bierbaumer S, Blatterer J, Graf R, Gul A,
            Abbas S, Badar M, Abbasi AA, Khan MA and Windpassinger C.
  TITLE     Exome sequence analysis in consanguineous Pakistani families
            inheriting Bardet-Biedle syndrome determined founder effect of
            mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene
  JOURNAL   Mol Genet Genomic Med 7 (8), e834 (2019)
   PUBMED   31294530
  REMARK    GeneRIF: Study of two apparently unrelated consanguineous
            Bardet-Biedle syndrome families from Dera Ismail Khan (D.I.Khan)
            district, Pakistan identified a recently reported single base
            deletion NM_001033604.1:c.299delC in the fourth exon of BBS9 in
            both families and speculate the evolutionary significance of this
            mutation and assume its strong founder effect in the Khaisoori
            tribe of D.I.Khan.
REFERENCE   5  (residues 1 to 765)
  AUTHORS   Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A,
            Slusarski DC, Scheller RH, Bazan JF, Sheffield VC and Jackson PK.
  TITLE     A core complex of BBS proteins cooperates with the GTPase Rab8 to
            promote ciliary membrane biogenesis
  JOURNAL   Cell 129 (6), 1201-1213 (2007)
   PUBMED   17574030
REFERENCE   6  (residues 1 to 765)
  AUTHORS   Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL,
            Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM and
            Sheffield VC.
  TITLE     Comparative genomics and gene expression analysis identifies BBS9,
            a new Bardet-Biedl syndrome gene
  JOURNAL   Am J Hum Genet 77 (6), 1021-1033 (2005)
   PUBMED   16380913
  REMARK    GeneRIF: Comparative genomics and gene expression analysis
            identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene.
REFERENCE   7  (residues 1 to 765)
  AUTHORS   Vernon EG, Malik K, Reynolds P, Powlesland R, Dallosso AR, Jackson
            S, Henthorn K, Green ED and Brown KW.
  TITLE     The parathyroid hormone-responsive B1 gene is interrupted by a
            t(1;7)(q42;p15) breakpoint associated with Wilms' tumour
  JOURNAL   Oncogene 22 (9), 1371-1380 (2003)
   PUBMED   12618763
  REMARK    GeneRIF: gene is interrupted by a t(1;7)(q42;p15) breakpoint
            associated with Wilms' tumour; new alternately spliced isoforms
            were found in a wide range of adult and foetal tissues
REFERENCE   8  (residues 1 to 765)
  AUTHORS   Adams AE, Rosenblatt M and Suva LJ.
  TITLE     Identification of a novel parathyroid hormone-responsive gene in
            human osteoblastic cells
  JOURNAL   Bone 24 (4), 305-313 (1999)
   PUBMED   10221542
REFERENCE   9  (residues 1 to 765)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (residues 1 to 765)
  AUTHORS   Forsyth,R. and Gunay-Aygun,M.
  TITLE     Bardet-Biedl Syndrome Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301537
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC074338.1, AC007312.1,
            AC087070.2, AC006195.1 and AC078833.5.
            
            Summary: This gene is downregulated by parathyroid hormone in
            osteoblastic cells, and therefore is thought to be involved in
            parathyroid hormone action in bones. The exact function of this
            gene has not yet been determined. Alternatively spliced transcript
            variants encoding different isoforms have been identified.
            [provided by RefSeq, Jan 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2149178,
                              SAMEA2155371 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..765
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     Protein         1..765
                     /product="protein PTHB1 isoform 13"
                     /note="protein PTHB1; PTH-responsive osteosarcoma B1
                     protein; bardet-Biedl syndrome 9 protein; parathyroid
                     hormone-responsive B1 gene protein"
                     /calculated_mol_wt=85799
     Region          <1..296
                     /region_name="PHTB1_N"
                     /note="PTHB1 N-terminus; pfam14727"
                     /db_xref="CDD:434162"
     Region          319..697
                     /region_name="PHTB1_C"
                     /note="PTHB1 C-terminus; pfam14728"
                     /db_xref="CDD:434163"
     CDS             1..765
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /coded_by="NM_001348045.3:668..2965"
                     /note="isoform 13 is encoded by transcript variant 14"
                     /db_xref="CCDS:CCDS94082.1"
                     /db_xref="GeneID:27241"
                     /db_xref="HGNC:HGNC:30000"
                     /db_xref="MIM:607968"
ORIGIN      
        1 mklmyehnlq rtacnmtygs fggvkgrdli ciqsmdgmlm vfeqesyafg rflpgfllpg
       61 playssrtds fltvsscqqv esykyqvlaf atdadkrqet eqqklgsgkr lvvdwtlnig
      121 eqaldicivs fnqsassvfv lgernffclk dngqirfmkk ldwspscflp ycsvsegtin
      181 tlignhnnml hiyqdvtlkw atqlphipva vrvgclhdlk gvivtlsddg hlqcsylgtd
      241 pslfqapnvq srelnydeld vemkelqkii kdvnksqgvw pmtereddln vsvvvspnfd
      301 svsqatdvev gtdlvpsvtv kvtlqnrvil qkaklsvyvq ppleltcdqf tfefmtpdlt
      361 rtvsfsvylk rsytpseleg navvsysrpt drnpdgiprv iqckfrlplk liclpgqpsk
      421 tashkitidt nkspvsllsl fpgfasqsdd dqvnvmgfhf lggaritvla sktsqryriq
      481 seqfedlwli tnelilrlqe yfekqgvkdf acsfsgsipl qeyfelidhh felringekl
      541 eellseravq fraiqrrlla rfkdktpapl qhldtlldgt ykqvialada veenqgnlfq
      601 sftrlksath lvillialwq klsadqvail eaaflplqed tqelgweetv daaishllkt
      661 clsksskeqa lnlnsqlnip kdtsqlkkhi tllcdrlskg grlclstdaa apqtmvmpgg
      721 cttipesdle ersveqdste lftnhrhlta etprpevspl qgvse
//
LOCUS       NP_001350599             150 aa            linear   PRI 19-MAR-2023
DEFINITION  calmodulin-1 isoform 1 [Homo sapiens].
ACCESSION   NP_001350599 XP_006720321
VERSION     NP_001350599.1
DBSOURCE    REFSEQ: accession NM_001363670.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 150)
  AUTHORS   Hussey JW, Limpitikul WB and Dick IE.
  TITLE     Calmodulin Mutations in Human Disease
  JOURNAL   Channels (Austin) 17 (1), 2165278 (2023)
   PUBMED   36629534
  REMARK    GeneRIF: Calmodulin Mutations in Human Disease.
            Review article
REFERENCE   2  (residues 1 to 150)
  AUTHORS   Prakash O, Gupta N, Milburn A, McCormick L, Deugi V, Fisch P, Wyles
            J, Thomas NL, Antonyuk S, Dart C and Helassa N.
  TITLE     Calmodulin variant E140G associated with long QT syndrome impairs
            CaMKIIdelta autophosphorylation and L-type calcium channel
            inactivation
  JOURNAL   J Biol Chem 299 (1), 102777 (2023)
   PUBMED   36496072
  REMARK    GeneRIF: Calmodulin variant E140G associated with long QT syndrome
            impairs CaMKIIdelta autophosphorylation and L-type calcium channel
            inactivation.
REFERENCE   3  (residues 1 to 150)
  AUTHORS   Alphonse N, Wanford JJ, Voak AA, Gay J, Venkhaya S, Burroughs O,
            Mathew S, Lee T, Evans SL, Zhao W, Frowde K, Alrehaili A, Dickenson
            RE, Munk M, Panina S, Mahmood IF, Llorian M, Stanifer ML, Boulant
            S, Berchtold MW, Bergeron JRC, Wack A, Lesser CF and Odendall C.
  TITLE     A family of conserved bacterial virulence factors dampens
            interferon responses by blocking calcium signaling
  JOURNAL   Cell 185 (13), 2354-2369 (2022)
   PUBMED   35568036
REFERENCE   4  (residues 1 to 150)
  AUTHORS   Rhyner JA, Ottiger M, Wicki R, Greenwood TM and Strehler EE.
  TITLE     Structure of the human CALM1 calmodulin gene and identification of
            two CALM1-related pseudogenes CALM1P1 and CALM1P2
  JOURNAL   Eur J Biochem 225 (1), 71-82 (1994)
   PUBMED   7925473
REFERENCE   5  (residues 1 to 150)
  AUTHORS   Napolitano,C., Mazzanti,A., Bloise,R. and Priori,S.G.
  TITLE     Catecholaminergic Polymorphic Ventricular Tachycardia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301466
REFERENCE   6  (residues 1 to 150)
  AUTHORS   Alders,M., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301308
REFERENCE   7  (residues 1 to 150)
  AUTHORS   Kessler F, Falchetto R, Heim R, Meili R, Vorherr T, Strehler EE and
            Carafoli E.
  TITLE     Study of calmodulin binding to the alternatively spliced C-terminal
            domain of the plasma membrane Ca2+ pump
  JOURNAL   Biochemistry 31 (47), 11785-11792 (1992)
   PUBMED   1332771
REFERENCE   8  (residues 1 to 150)
  AUTHORS   Sacks DB, Davis HW, Crimmins DL and McDonald JM.
  TITLE     Insulin-stimulated phosphorylation of calmodulin
  JOURNAL   Biochem J 286 (Pt 1) (Pt 1), 211-216 (1992)
   PUBMED   1520270
REFERENCE   9  (residues 1 to 150)
  AUTHORS   Koller M, Schnyder B and Strehler EE.
  TITLE     Structural organization of the human CaMIII calmodulin gene
  JOURNAL   Biochim Biophys Acta 1087 (2), 180-189 (1990)
   PUBMED   2223880
REFERENCE   10 (residues 1 to 150)
  AUTHORS   SenGupta B, Friedberg F and Detera-Wadleigh SD.
  TITLE     Molecular analysis of human and rat calmodulin complementary DNA
            clones. Evidence for additional active genes in these species
  JOURNAL   J Biol Chem 262 (34), 16663-16670 (1987)
   PUBMED   2445749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL512791.3.
            On May 29, 2018 this sequence version replaced XP_006720321.1.
            
            Summary: This gene encodes one of three calmodulin proteins which
            are members of the EF-hand calcium-binding protein family.
            Calcium-induced activation of calmodulin regulates and modulates
            the function of cardiac ion channels. Two pseudogenes have been
            identified on chromosome 7 and X. Multiple transcript variants
            encoding different isoforms have been found for this gene.A
            missense mutation in the CALM1 gene has been associated with
            ventricular tachycardia.[provided by RefSeq, May 2020].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.156023.1,
                                           SRR18074968.2055867.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..150
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.11"
     Protein         1..150
                     /product="calmodulin-1 isoform 1"
                     /EC_number="2.7.11.19"
                     /note="phosphorylase kinase, delta subunit;
                     prepro-calmodulin 1; calmodulin 1 (phosphorylase kinase,
                     delta); phosphorylase kinase subunit delta; Calmodulin-2;
                     Calmodulin-3; phosphorylase kinase subunit delta 1"
                     /calculated_mol_wt=16835
     Region          3..150
                     /region_name="PTZ00184"
                     /note="calmodulin; Provisional"
                     /db_xref="CDD:185504"
     CDS             1..150
                     /gene="CALM1"
                     /gene_synonym="CALML2; caM; CAM2; CAM3; CAMB; CAMC; CAMI;
                     CAMIII; CPVT4; DD132; LQT14; PHKD; PHKD1"
                     /coded_by="NM_001363670.2:916..1368"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="GeneID:801"
                     /db_xref="HGNC:HGNC:1442"
                     /db_xref="MIM:114180"
ORIGIN      
        1 mqadqlteeq iaefkeafsl fdkdgdgtit tkelgtvmrs lgqnpteael qdminevdad
       61 gngtidfpef ltmmarkmkd tdseeeirea frvfdkdgng yisaaelrhv mtnlgekltd
      121 eevdemirea didgdgqvny eefvqmmtak
//
LOCUS       XP_005245492             830 aa            linear   PRI 20-MAR-2023
DEFINITION  P-selectin isoform X1 [Homo sapiens].
ACCESSION   XP_005245492
VERSION     XP_005245492.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005245435.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..830
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..830
                     /product="P-selectin isoform X1"
                     /calculated_mol_wt=90689
     Region          42..160
                     /region_name="CLECT_selectins_like"
                     /note="C-type lectin-like domain (CTLD) of the type found
                     in the type 1 transmembrane proteins: P(platlet)-,
                     E(endothelial)-, and L(leukocyte)- selectins (sels);
                     cd03592"
                     /db_xref="CDD:153062"
     Site            order(89,121,123..124,133,135,146..148)
                     /site_type="other"
                     /note="carbohydrate binding site [chemical binding]"
                     /db_xref="CDD:153062"
     Site            order(89,121,123,129,133,135,146..148)
                     /site_type="other"
                     /note="PSGL-1 peptide binding surface"
                     /db_xref="CDD:153062"
     Region          <168..195
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Region          219..443
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     Region          342..567
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     Region          505..761
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     CDS             1..830
                     /gene="SELP"
                     /gene_synonym="CD62; CD62P; GMP140; GRMP; LECAM3; PADGEM;
                     PSEL"
                     /coded_by="XM_005245435.3:51..2543"
                     /db_xref="GeneID:6403"
                     /db_xref="HGNC:HGNC:10721"
                     /db_xref="MIM:173610"
ORIGIN      
        1 mancqiaily qrfqrvvfgi sqllcfsali seltnqkeva awtyhystka yswnisrkyc
       61 qnrytdlvai qnkneidyln kvlpyyssyy wigirknnkt wtwvgtkkal tneaenwadn
      121 epnnkrnned cveiyiksps apgkwndehc lkkkhalcyt ascqdmscsk qgecletign
      181 ytcscypgfy gpeceyvrec gelelpqhvl mncshplgnf sfnsqcsfhc tdgyqvngps
      241 kleclasgiw tnkppqclaa qcpplkiper gnmtclhsak afqhqsscsf sceegfalvg
      301 pevvqctasg vwtapapvck avqcqhleap segtmdcvhp ltafaygssc kfecqpgyrv
      361 rgldmlrcid sghwsaplpt ceaisceple spvhgsmdcs pslrafqydt ncsfrcaegf
      421 mlrgadivrc dnlgqwtapa pvcqalqcqd lpvpnearvn cshpfgafry qsvcsftcne
      481 glllvgasvl qclatgnwns vppecqaipc tpllspqngt mtcvqplgss sykstcqfic
      541 degyslsgpe rldctrsgrw tdsppmceai kcpelfapeq gsldcsdtrg efnvgstchf
      601 scdngfkleg pnnvecttsg rwsatpptck giaslptpgv qcpalttpgq gtmycrhhpg
      661 tfgfnttcyf gcnagftlig dstlscrpsg qwtavtpacr avkcselhvn kpiamncsnl
      721 wgnfsygsic sfhclegqll ngsaqtacqe nghwsttvpt cqagpltiqe altyfggava
      781 stiglimggt llallrkrfr qkddgkcpln phshlgtygv ftnaafdpsp
//
LOCUS       XP_047289358             310 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-1,4-galactosyltransferase 3 isoform X2 [Homo sapiens].
ACCESSION   XP_047289358
VERSION     XP_047289358.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433402.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 47% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..310
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..310
                     /product="beta-1,4-galactosyltransferase 3 isoform X2"
                     /calculated_mol_wt=34627
     Region          122..303
                     /region_name="b4GalT"
                     /note="Beta-4-Galactosyltransferase is involved in the
                     formation of the poly-N-acetyllactosamine core structures
                     present in glycoproteins and glycosphingolipids; cd00899"
                     /db_xref="CDD:132999"
     Site            order(130,132,134,169,195..197)
                     /site_type="active"
                     /note="ligand binding site [active]"
                     /db_xref="CDD:132999"
     Site            order(195,197,291)
                     /site_type="active"
                     /note="metal binding site [active]"
                     /db_xref="CDD:132999"
     CDS             1..310
                     /gene="B4GALT3"
                     /gene_synonym="beta4Gal-T3"
                     /coded_by="XM_047433402.1:923..1855"
                     /db_xref="GeneID:8703"
                     /db_xref="HGNC:HGNC:926"
                     /db_xref="MIM:604014"
ORIGIN      
        1 mlrrllerpc tlallvgsql avmmylslgg frslsalfgr dqgptfdysh prdvysnlsh
       61 lpgapggppa pqglpycper spllvgpvsv sfspvpslae ivernprvep ggryrpagce
      121 prsrtaiivp hrarehhlrl llyhlhpflq rqqlaygiyv ihqagngtfn rakllnvgvr
      181 ealrdeewdc lflhdvdllp endhnlyvcd prgprhvava mnkfgyslpy pqyfggvsal
      241 tpdqylkmng fpneywgwgg edddiatrvr lagmkisrpp tsvghykmvk hrgdkgneen
      301 phripgrkmg
//
LOCUS       XP_047282954            2119 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear mitotic apparatus protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047282954
VERSION     XP_047282954.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426998.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2119
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..2119
                     /product="nuclear mitotic apparatus protein 1 isoform X2"
                     /calculated_mol_wt=238398
     Region          6..152
                     /region_name="HkD_NuMA"
                     /note="Hook domain found in nuclear mitotic apparatus
                     protein (NuMA) and similar proteins; cd22224"
                     /db_xref="CDD:411795"
     Site            order(107,121,124..125,127..128,131..132,135)
                     /site_type="other"
                     /note="putative LIC-binding interface [polypeptide
                     binding]"
                     /db_xref="CDD:411795"
     Region          <215..911
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          549..1340
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          1015..>1717
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          1750..>2020
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          1874..1932
                     /region_name="NuMA_LGNBD"
                     /note="LGN binding domain (LGNBD) of nuclear mitotic
                     apparatus protein (NuMA) and similar proteins; cd22298"
                     /db_xref="CDD:412093"
     Site            order(1874,1877..1882,1902..1904,1907..1908,1910,
                     1912..1916,1920..1925,1927)
                     /site_type="other"
                     /note="LGN binding site [polypeptide binding]"
                     /db_xref="CDD:412093"
     CDS             1..2119
                     /gene="NUMA1"
                     /gene_synonym="NMP-22; NUMA"
                     /coded_by="XM_047426998.1:326..6685"
                     /db_xref="GeneID:4926"
                     /db_xref="HGNC:HGNC:8059"
                     /db_xref="MIM:164009"
ORIGIN      
        1 mtlhatrgaa llswvnslhv adpveavlql qdcsifikii drihgteegq qilkqpvser
       61 ldfvcsflqk nrkhpsspec lvsaqkvleg selelakmtm lllyhstmss ksprdweqfe
      121 ykiqaelavi lkfvldhedg lnlnedlenf lqkapvpstc sstfpeelsp pshqakreir
      181 flelqkvass ssgnnflsgs paspmgdilq tpqfqmrrlk kqladersnr delelelaen
      241 rklltekdaq iammqqridr lallnekqaa splepkelee lrdknesltm rlhetlkqcq
      301 dlkteksqmd rkinqlseen gdlsfklref ashlqqlqda lnelteehsk atqewlekqa
      361 qlekelsaal qdkkcleekn eilqgklsql eehlsqlqdn ppqekgevlg dvlqletlkq
      421 eaatlaannt qlqarvemle tergqqeakl laerghfeee kqqlsslitd lqssisnlsq
      481 akeeleqasq ahgarltaqv asltselttl natiqqqdqe laglkqqake kqaqlaqtlq
      541 qqeqasqglr hqveqlsssl kqkeqqlkev aekqeatrqd haqqlataae ereaslrerd
      601 aalkqleale kekaakleil qqqlqvanea rdsaqtsvtq aqrekaelsr kveelqacve
      661 tarqeqheaq aqvaelelql rseqqkatek ervaqekdql qeqlqalkes lkvtkgslee
      721 ekrraadale eqqrciselk aetrslveqh krerkeleee ragrkglear lqqlgeahqa
      781 etevlrrela eamaaqhtae seceqlvkev aawreryeds qqeeaqygam fqeqlmtlke
      841 ecekarqelq eakekvagie shselqisrq qnelaelhan laralqqvqe kevraqklad
      901 dlstlqekma atskevarle tlvrkageqq etasrelvke paragdrqpe wleeqqgrqf
      961 cstqaalqam ereaeqmgne lerlraalme sqgqqqeerg qqerevarlt qergraqadl
     1021 alekaarael emrlqnalne qrvefatlqe alahalteke gkdqelaklr gleaaqikel
     1081 eelrqtvkql keqlakkeke hasgsgaqse aagrteptgp klealraevs kleqqcqkqq
     1141 eqadslersl eaerasraer dsaletlqgq leekaqelgh sqsalasaqr elaafrtkvq
     1201 dhskaedewk aqvargrqea erknslissl eeevsilnrq vlekegeske lkrlvmaese
     1261 ksqkleerlr llqaetasns araaerssal reevqslree aekqrvasen lrqeltsqae
     1321 raeelgqelk awqekffqke qalstlqleh tstqalvsel lpakhlcqql qaeqaaaekr
     1381 hreeleqskq aagglraell raqrelgeli plrqkvaeqe rtaqqlraek asyaeqlsml
     1441 kkahgllaee nrglgeranl grqfleveld qarekyvqel aavradaetr laevqreaqs
     1501 tarelevmta kyegakvkvl eerqrfqeer qkltaqveel skkladsdqa skvqqqklka
     1561 vqaqggesqq eaqrlqaqln elqaqlsqke qaaehyklqm ekakthydak kqqnqelqeq
     1621 lrsleqlqke nkelraeaer lghelqqagl ktkeaeqtcr hltaqvrsle aqvahadqql
     1681 rdlgkfqvat dalksrepqa kpqldlsids ldlsceegtp lsitrhkalm tiipdlspnn
     1741 plsklprtqp dgtsvpgepa spisqrlppk vesleslyft piparsqapl essldslgdv
     1801 fldsgrktrs arrrttqiin itmtkkldve epdsanssfy strsapasqa slratsstqs
     1861 larlgspdyg nsallslpgy rpttrssarr sqagvssgap pgrnsfymgt cqdepeqldd
     1921 wnriaelqqr nrvcpphlkt cyplesrpsl slgtitdeem ktgdpqetlr rasmqpiqia
     1981 egtgittrqq rkrvslephq gpgtpeskka tscfprpmtp rdrhegrkqs tteaqkkaap
     2041 astkqadrrq smafsilntp kklgnsllrr gaskkalska spntrsgtrr spriatttas
     2101 aataaaigat prakgkakh
//
LOCUS       XP_011533314             666 aa            linear   PRI 20-MAR-2023
DEFINITION  spartin isoform X1 [Homo sapiens].
ACCESSION   XP_011533314
VERSION     XP_011533314.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011535012.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..666
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..666
                     /product="spartin isoform X1"
                     /calculated_mol_wt=72702
     Region          16..95
                     /region_name="MIT_spastin"
                     /note="MIT: domain contained within Microtubule
                     Interacting and Trafficking molecules. This MIT domain
                     sub-family is found in the AAA protein spastin, a probable
                     ATPase involved in the assembly or function of nuclear
                     protein complexes; spastins might also be...; cd02679"
                     /db_xref="CDD:239142"
     Region          427..611
                     /region_name="Senescence"
                     /note="Senescence-associated protein; pfam06911"
                     /db_xref="CDD:429189"
     CDS             1..666
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /coded_by="XM_011535012.3:84..2084"
                     /db_xref="GeneID:23111"
                     /db_xref="HGNC:HGNC:18514"
                     /db_xref="MIM:607111"
ORIGIN      
        1 meqepqngep aeikiireay kkaflfvnkg lntdelgqke eaknyykqgi ghllrgisis
       61 skesehtgpg wesarqmqqk mketlqnvrt rleilekgla tslqndlqev pklypefppk
      121 dmceklpepq sfssapqhae vngntstpsa gavaapasls lpsqscpaea ppaytpqaae
      181 ghytvsygtd sgefssvgee fyrnhsqppp letlgldade lilipngvqi ffvnpagevs
      241 apsypgylri vrfldnsldt vlnrppgflq vcdwlyplvp drspvlkcta gaymfpdtml
      301 qaagcfvgvv lsselpeddr elfedllrqm sdlrlqanwn raeeenefqi pgrtrpssdq
      361 lkeasgtdvk qldqgnkdvr hkgkrgkrak dtsseevnls hivpcepvpe ekpkelpews
      421 ekvahnilsg aswvswglvk gaeitgkaiq kgasklreri qpeekpvevs pavtkglyia
      481 kqatggaakv sqflvdgvct vancvgkela phvkkhgskl vpeslkkdkd gkspldgamv
      541 vaassvqgfs tvwqglecaa kcivnnvsae tvqtvrykyg ynageathha vdsavnvgvt
      601 ayninnigik amvkktatqt ghtlledyqi vdnsqrenqe gaanvnvrge kdeqtkevke
      661 akkkdk
//
LOCUS       XP_024305127            1318 aa            linear   PRI 20-MAR-2023
DEFINITION  LIM domain only protein 7 isoform X14 [Homo sapiens].
ACCESSION   XP_024305127
VERSION     XP_024305127.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024449359.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1318
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..1318
                     /product="LIM domain only protein 7 isoform X14"
                     /calculated_mol_wt=149985
     Region          9..>89
                     /region_name="DUF4757"
                     /note="Domain of unknown function (DUF4757); pfam15949"
                     /db_xref="CDD:435034"
     Region          261..408
                     /region_name="DUF4757"
                     /note="Domain of unknown function (DUF4757); pfam15949"
                     /db_xref="CDD:435034"
     Region          676..743
                     /region_name="PDZ"
                     /note="PDZ domain, also called DHR (Dlg homologous region)
                     or GLGF (after a conserved sequence motif). Many PDZ
                     domains bind C-terminal polypeptides, though binding to
                     internal (non-C-terminal) polypeptides and even to lipids
                     has been demonstrated; cd00136"
                     /db_xref="CDD:238080"
     Site            order(676..678,680,726,729..730)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238080"
     Region          <875..931
                     /region_name="GBP_C"
                     /note="Guanylate-binding protein, C-terminal domain;
                     cl20817"
                     /db_xref="CDD:450829"
     Region          <878..>1033
                     /region_name="DUF5401"
                     /note="Family of unknown function (DUF5401); pfam17380"
                     /db_xref="CDD:375164"
     Region          918..929
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:293879"
     CDS             1..1318
                     /gene="LMO7"
                     /gene_synonym="FBX20; FBXO20; LMO7b; LOMP"
                     /coded_by="XM_024449359.2:631..4587"
                     /db_xref="GeneID:4008"
                     /db_xref="HGNC:HGNC:6646"
                     /db_xref="MIM:604362"
ORIGIN      
        1 mqdynkddms yrrisavepk talpfnrflp nksrqpsyvp aplrkkkpdk hednrrswas
       61 pvyteadgtf ssqflllqal qtysddilss ethtkidpts gprlitrrkn lsyapgyrrd
      121 dlemaaldpd lenddffvrk tgafhanpyv lrafedfrkf seqddsverd iilqcregel
      181 vlpdlekddm ivrripaqkk evplsgapdr yhpvpfpepw tlppeiqakf lcvlertcps
      241 keksnscril vpsyrqkkdd mltrkiqswk lgttvppisf tpgpcseadl krweaireas
      301 rlrhkkrlmv erlfqkiyge ngsksmsdvs aedvqnlrql ryeemqkiks qlkeqdqkwq
      361 ddlakwkdrr ksytsdlqkk keereeiekq alekskrssk tfkemlqdre sqnqkstvps
      421 rrrmysfddv leegkrpptm tvseasyqse rveekgatyp seipkedstt fakredrvtt
      481 eiqlpsqspv eeqspaslss lrsrstqmes trvsaslprs yrktdtvrlt svvtprpfgs
      541 qtrgisslpr sytmddawky ngdvedikrt pnnvvstpap spdasqlass lssqkevaat
      601 eedvtrlpsp tspfsslsqd qaatskatls stsgldlmse sgegeispqr evsrsqdqfs
      661 dmrisinqtp gksldfgfti kwdipgifva sveagspaef sqlqvddeii ainntkfsyn
      721 dskeweeama kaqetghlvm dvrrygkadw gkdqpslpfi rhktlnltsm atkiigspet
      781 kwidatsgiy nsekssnlsv ttdfseslqs snieskeing ihdesnafes kasesislkn
      841 lkrrsqffeq gssdsvvpdl pvptisapsr wvwdqeeerk rqerwqkeqd rllqekyqre
      901 qeklreewqr akqeaerens kyldeelmvl ssnsmslttr epslatweat wsegskssdr
      961 egtrageeer rqpqeevvhe dqgkkpqdql viererkweq qlqeeqeqkr lqaeaeeqkr
     1021 paeeqkrqae ieretsvriy qyrrpvdsyd ipkteeassg flpgdrnksr sttelddyst
     1081 nkngnnkyld qignmtssqr rskkeqvpsg aelerqqilq emrkrtplhn dnswirqrsa
     1141 svnkepvslp gimrrgesld nldsprsnsw rqppwlnqpt gfyasssvqd fsrpppqlvs
     1201 tsnraymrnp sssvpppsag svktsttgva ttqsptprsh spsasqsgsq lrnsvlpvsv
     1261 tsealpqelk sgsettncta ttaisdsnld gqppcdvslh tkallqieee vvaahvdl
//
LOCUS       XP_011534691             802 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM9 isoform X1 [Homo sapiens].
ACCESSION   XP_011534691
VERSION     XP_011534691.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011536389.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..802
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..802
                     /product="E3 ubiquitin-protein ligase TRIM9 isoform X1"
                     /calculated_mol_wt=89631
     Region          5..49
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Region          166..212
                     /region_name="Bbox1_TRIM9_C-I"
                     /note="B-box-type 1 zinc finger found in tripartite
                     motif-containing protein 9 (TRIM9) and similar proteins;
                     cd19843"
                     /db_xref="CDD:380901"
     Region          223..271
                     /region_name="Bbox2_TRIM9_C-I"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein 9 (TRIM9) and similar proteins;
                     cd19826"
                     /db_xref="CDD:380884"
     Region          273..399
                     /region_name="BBC"
                     /note="B-Box C-terminal domain; smart00502"
                     /db_xref="CDD:128778"
     Region          449..528
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(517..518,520..521)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          616..773
                     /region_name="SPRY_PRY_TRIM67_9"
                     /note="PRY/SPRY domain in tripartite motif-containing
                     proteins, TRIM9 and TRIM67; cd12889"
                     /db_xref="CDD:293947"
     CDS             1..802
                     /gene="TRIM9"
                     /gene_synonym="RNF91; SPRING"
                     /coded_by="XM_011536389.3:167..2575"
                     /db_xref="GeneID:114088"
                     /db_xref="HGNC:HGNC:16288"
                     /db_xref="MIM:606555"
ORIGIN      
        1 meemeeelkc pvcgsfyrep iilpcshnlc qacarnilvq tpesespqsh raagsgvsdy
       61 dyldldkmsl yseadsgygs yggfasaptt pcqkspngvr vfppampppa thlspalapv
      121 prnscitcpq chrslilddr glrgfpknrv legvidryqq skaaalkcql cekapkeatv
      181 mceqcdvfyc dpcrlrchpp rgplakhrlv ppaqgrvsrr lsprkvstct dhelenhsmy
      241 cvqckmpvcy qcleegkhss hevkalgamw klhksqlsqa lnglsdrake akeflvqlrn
      301 mvqqiqensv efeaclvaqc dalidalnrr kaqllarvnk ehehklkvvr dqishctvkl
      361 rqttglmeyc levikendps gflqisdali rrvhltedqw gkgtltprmt tdfdlsldns
      421 pllqsihqld fvqvkvpatp ilqleeccth nnsatlswkq pplstvpadg yilelddgng
      481 gqfrevyvgk etmctvdglh fnstynarvk afnktgvspy sktlvlqtse dtdseeqtlp
      541 fpvpserlpl rrmspfsstl nlqpsfpgrs yfdfrssphq lslhsslqsl napgcnfetq
      601 sapysqlvdi kkllavawfa fdpgsahsdi ilsndnltvt cssyddrvvl gktgfskgih
      661 yweltvdryd nhpdpafgva rmdvmkdvml gkddkawamy vdnnrswfmh nnshtnrteg
      721 gitkgatigv lldlnrknlt ffindeqqgp iafdnveglf fpavslnrnv qvstlplrln
      781 sccwlpvqrl pravqsnrre gs
//
LOCUS       XP_047286972             255 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing protein 74A isoform X7 [Homo
            sapiens].
ACCESSION   XP_047286972
VERSION     XP_047286972.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431016.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..255
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..255
                     /product="leucine-rich repeat-containing protein 74A
                     isoform X7"
                     /calculated_mol_wt=28034
     Region          53..78
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <56..219
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          80..106
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          107..135
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          136..163
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          164..187
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          192..212
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..255
                     /gene="LRRC74A"
                     /gene_synonym="C14orf166B; LRRC74"
                     /coded_by="XM_047431016.1:40..807"
                     /db_xref="GeneID:145497"
                     /db_xref="HGNC:HGNC:23346"
ORIGIN      
        1 mfprgasyai faivlgddek ffttgqkely leacklmgvv pvsyfirnme esyvnlnhhg
       61 lgprgtkaia ialvsnmavt kleledncim eegvlslvem lqenyylqem nisnnhlgle
      121 gariisdffe rnsssiwsle lsgndfkeds aallcqalst nyqikkldls hnqfsdvgge
      181 hlgqmlainv gltsldlswn nfhtrgaval cnglrgkssd staawstwis vamtsamkgp
      241 pksakdwnpm kasef
//
LOCUS       XP_047287033             474 aa            linear   PRI 20-MAR-2023
DEFINITION  estrogen receptor beta isoform X2 [Homo sapiens].
ACCESSION   XP_047287033
VERSION     XP_047287033.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431077.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..474
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..474
                     /product="estrogen receptor beta isoform X2"
                     /calculated_mol_wt=53078
     Region          16..125
                     /region_name="ERbeta_N"
                     /note="Estrogen receptor beta; pfam12497"
                     /db_xref="CDD:432595"
     Region          144..225
                     /region_name="NR_DBD_ER"
                     /note="DNA-binding domain of estrogen receptors (ER) is
                     composed of two C4-type zinc fingers; cd07171"
                     /db_xref="CDD:143545"
     Site            order(149,152,166,169,185,191,201,204)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143545"
     Site            order(158..161,167..168,170..172,174..175,198..199,202,
                     205)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143545"
     Site            order(184..187,191..192,197,200)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143545"
     Region          263..470
                     /region_name="NR_LBD_ER"
                     /note="Ligand binding domain of Estrogen receptor, which
                     are activated by the hormone 17beta-estradiol (estrogen);
                     cd06949"
                     /db_xref="CDD:132747"
     Site            order(403,407,409..410,430,434..435,438,452..453,455..457,
                     459..460,463..464,466..467,470)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:132747"
     CDS             1..474
                     /gene="ESR2"
                     /gene_synonym="ER-BETA; Erb; ESR-BETA; ESRB; ESTRB; NR3A2;
                     ODG8"
                     /coded_by="XM_047431077.1:1115..2539"
                     /db_xref="GeneID:2100"
                     /db_xref="HGNC:HGNC:3468"
                     /db_xref="MIM:601663"
ORIGIN      
        1 mdiknspssl nspssyncsq silplehgsi yipssyvdsh heypamtfys pavmnysips
       61 nvtnleggpg rqttspnvlw ptpghlsplv vhrqlshlya epqkspwcea rslehtlpvn
      121 retlkrkvsg nrcaspvtgp gskrdahfca vcsdyasgyh ygvwscegck affkrsiqgh
      181 ndyicpatnq ctidknrrks cqacrlrkcy evgmvkcgsr rercgyrlvr rqrsadeqlh
      241 cagkakrsgg haprvrelll dalspeqlvl tlleaepphv lisrpsapft easmmmsltk
      301 ladkelvhmi swakkipgfv elslfdqvrl lescwmevlm mglmwrsidh pgklifapdl
      361 vldrdegkcv egileifdml lattsrfrel klqhkeylcv kamillnssm yplvtatqda
      421 dssrklahll navtdalvwv iaksgissqq qsmrlanllm llshvrhars cvyk
//
LOCUS       XP_016879445             167 aa            linear   PRI 20-MAR-2023
DEFINITION  TP53-target gene 3 protein isoform X1 [Homo sapiens].
ACCESSION   XP_016879445
VERSION     XP_016879445.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017023956.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..167
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..167
                     /product="TP53-target gene 3 protein isoform X1"
                     /calculated_mol_wt=17324
     CDS             1..167
                     /gene="TP53TG3F"
                     /gene_synonym="TP53TG3; TP53TG3B; TP53TG3C; TP53TG3D;
                     TP53TG3E"
                     /coded_by="XM_017023956.2:69..572"
                     /db_xref="GeneID:102724127"
                     /db_xref="HGNC:HGNC:51817"
ORIGIN      
        1 mraspcisqp aaswhprpsa lrptagsgpd trtpgtvedg sapcpafrsp avspcgeepc
       61 cfqispaeet lelgrlvspg ncdtlspraa gfyachvrsl ipcrstkgrw pltasaagls
      121 rlsqilctpg aplgppgslr gpylgrashg dfptsvikrr krhsgra
//
LOCUS       XP_024306443            1504 aa            linear   PRI 20-MAR-2023
DEFINITION  clustered mitochondria protein homolog isoform X1 [Homo sapiens].
ACCESSION   XP_024306443
VERSION     XP_024306443.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024450675.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_024306443.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1504
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1504
                     /product="clustered mitochondria protein homolog isoform
                     X1"
                     /calculated_mol_wt=166416
     Region          35..>228
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          260..333
                     /region_name="CLU_N"
                     /note="Mitochondrial function, CLU-N-term; pfam15044"
                     /db_xref="CDD:434414"
     Region          550..770
                     /region_name="CLU"
                     /note="Clustered mitochondria; pfam13236"
                     /db_xref="CDD:433051"
     Region          962..1143
                     /region_name="eIF3_p135"
                     /note="Translation initiation factor eIF3 subunit 135;
                     pfam12807"
                     /db_xref="CDD:432801"
     Region          1180..1242
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     Region          1217..1243
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1218..1283
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     Site            order(1219..1220,1223..1224,1226,1258,1261..1262,
                     1265..1266,1268..1269,1300,1303..1304,1307..1308,1311)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          1256..1286
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1297..1372
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     Region          1299..1327
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..1504
                     /gene="CLUH"
                     /gene_synonym="CLU1"
                     /coded_by="XM_024450675.2:36..4550"
                     /db_xref="GeneID:23277"
                     /db_xref="HGNC:HGNC:29094"
                     /db_xref="MIM:616184"
ORIGIN      
        1 mawtrvcasc wrqlaeavlf tptgmgaeer tpllgpapas qsprpsilrg pgtpnsgfsd
       61 ppsgfagsdp lsrghrevgl sadssspwgp gatgfswpta vlladlerda rqgecalpga
      121 amaglaplkp easrssspgp tgcirarvaa eagtrnpgna gaeleswlpc chghpetpep
      181 rggqlptape lpsvmllngd cpeslkkeaa aaepprengl deagpgdett gqeviviqdt
      241 gfsvkilapg iepfslqvsp qemvqeihqv lmdredtchr tcfslhldgn vldhfselrs
      301 veglqegsvl rvveepytvr earihvrhvr dllksldpsd afngvdcnsl sflsvftdgd
      361 lgdsgkrkkg lemdpidctp peyilpgsre rplcplqpqn rdwkplqclk vltmsgwnpp
      421 pgnrkmhgdl mylfvitaed rqvsitastr gfylnqstay hfnpkpaspr flshslvell
      481 nqisptfkkn favlqkkrvq rhpferiatp fqvyswtapq aehamdcvra edaytsrlgy
      541 eehipgqtrd wneelqttre lprknlperl lreraifkvh sdftaaatrg amavidgnvm
      601 ainpseetkm qmfiwnniff slgfdvrdhy kdfggdvaay vaptndlngv rtynavdveg
      661 lytlgtvvvd yrgyrvtaqs iipgilerdq eqsviygsid fgktvvshpr ylellertsr
      721 plkilrhqvl ndrdeevelc ssveckgiig ndgrhyildl lrtfppdlnf lpvpgeelpe
      781 ecaragfpra hrhklcclrq elvdafvehr yllfmklaal qlmqqnasql etpsslengg
      841 psslesksed ppgqeagsee egssasglak vkelaetiaa ddgtadprsr evirnackav
      901 gsisstafdi rfnpdifspg vrfpescqde vrdqkqllkd aaafllscqi pglvkdcmeh
      961 avlpvdgatl aevmrqrgin mrylgkvlel vlrsparhql dhvfkigige litrsakhif
     1021 ktylqgvels glsaaishfl ncflssypnp vahlpadelv skkrnkrrkn rppgaadnta
     1081 wavmtpqelw knicqeakny fdfdlecetv dqavetyglq kitllreisl ktgiqvllke
     1141 ysfdsrhkpa fteedvlnif pvvkhvnpka sdafhffqsg qakvqqgflk egcelineal
     1201 nlfnnvygam hvetcaclrl larlhyimgd yaealsnqqk avlmservmg tehpntiqey
     1261 mhlalycfas sqlstalsll yrarylmllv fgedhpemal ldnniglvlh gvmeydlslr
     1321 flenalavst kyhgpkalkv alshhlvarv yeskaefrsa lqhekegyti yktqlgedhe
     1381 ktkesseylk cltqqavalq rtmneiyrng ssanipplkf tapsmasvle qlnvingilf
     1441 iplsqkdlen lkaevarrhq lqeasrnrdr aeepmatepa pagapgdlgs qppaakdpsp
     1501 svqg
//
LOCUS       XP_005257700             527 aa            linear   PRI 20-MAR-2023
DEFINITION  vascular endothelial zinc finger 1 isoform X1 [Homo sapiens].
ACCESSION   XP_005257700
VERSION     XP_005257700.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005257643.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..527
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..527
                     /product="vascular endothelial zinc finger 1 isoform X1"
                     /calculated_mol_wt=57494
     Region          76..96
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          174..196
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          176..196
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(181,183,185,187..188,191..192,195,209,211,215..216,
                     219..220,223,239,241,243,245..246,249..250)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          <198..255
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          204..224
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          234..252
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          263..289
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <386..503
                     /region_name="motB"
                     /note="flagellar motor protein MotB; Reviewed; PRK12799"
                     /db_xref="CDD:183756"
     CDS             1..527
                     /gene="VEZF1"
                     /gene_synonym="CMD1OO; DB1; ZNF161"
                     /coded_by="XM_005257643.2:144..1727"
                     /db_xref="GeneID:7716"
                     /db_xref="HGNC:HGNC:12949"
                     /db_xref="MIM:606747"
ORIGIN      
        1 meanwtaflf qaheashhqq qaaqnsllpl lssaveppdq kpllpipitq kpqgapetlk
       61 daigikkekp ktsfvctycs kafrdsyhlr rheschtgik lvsrpkktpt tvvplistia
      121 gdssrtslvs tiagilstvt tsssgtnpss sasttampvt qsvkkpskpv kknhacemcg
      181 kafrdvyhln rhklshsdek pfecpicnqr fkrkdrmtyh vrsheggitk pytcsvcgkg
      241 fsrpdhlsch vkhvhsterp fkcqfsslmq tctaafatkd rlrthmvrhe gkvscnicgk
      301 llsaayitsh lkthgqsqsi ncntckqgis ktcmseetsn qkqqqqqqqq qqqqqqqqqq
      361 hvtswpgkqv etlrlweeav karkkeaanl cqtstaattp vtlttpfsit ssvssgtmsn
      421 pvtvaaamsm rspvnvssav nitspmnigh pvtitsplsm tspltlttpv nlptpvtapv
      481 niahpvtits pmnlptpmtl aaplniamrp vesmpflpqa lptsppw
//
LOCUS       XP_011524745             384 aa            linear   PRI 20-MAR-2023
DEFINITION  netrin-5 isoform X1 [Homo sapiens].
ACCESSION   XP_011524745
VERSION     XP_011524745.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011526443.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..384
                     /product="netrin-5 isoform X1"
                     /calculated_mol_wt=41567
     Region          211..265
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(212,214,221,239,242,251)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          274..323
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(275,277,287,294,296,305)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     CDS             1..384
                     /gene="NTN5"
                     /coded_by="XM_011526443.4:812..1966"
                     /db_xref="GeneID:126147"
                     /db_xref="HGNC:HGNC:25208"
ORIGIN      
        1 mpvtfallll lgqatadpcy dpqgrpqfcl ppvtqlaava ascpqacals pgnhlgaret
       61 cngsltlalg gpflltsvsl rfctpgppal ilsaawasgg pwrllwhrpa wpgalggper
      121 vtfhstpgpk atvaashlrv efggqaglaa aglrgrcqch ghaarcaara rpprchcrhh
      181 ttgpgcescr pshrdwpwrp atprhphpcl pcscnqharr crfnselfrl sggrsggvce
      241 rcrhhtagrh chycqpgfwr dpsqpifsrr acracqchpi gatggtcnqt sgqctcklgv
      301 tgltcnrcgp gyqqsrsprm pcqripeatt tlattpgays sdpqcqnycn msdtrvhmsl
      361 rrycqqdhef hhllqpdise gwkr
//
LOCUS       XP_011524762             381 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C19orf47 isoform X9 [Homo sapiens].
ACCESSION   XP_011524762
VERSION     XP_011524762.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011526460.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..381
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..381
                     /product="uncharacterized protein C19orf47 isoform X9"
                     /calculated_mol_wt=40257
     Region          38..121
                     /region_name="SAM_4"
                     /note="SAM domain (Sterile alpha motif); pfam18017"
                     /db_xref="CDD:407856"
     Region          130..381
                     /region_name="DUF5577"
                     /note="Family of unknown function (DUF5577); pfam17740"
                     /db_xref="CDD:407613"
     CDS             1..381
                     /gene="C19orf47"
                     /coded_by="XM_011526460.3:14..1159"
                     /db_xref="GeneID:126526"
                     /db_xref="HGNC:HGNC:26723"
ORIGIN      
        1 mvmaalslva acwgraaade svqlpaapgs svraretmvs vtmatsewiq ffkeagippg
       61 pavnyavmfv dnriqksmll dlnkeimnel gvtvvgdiia ilkhakvvhr qdmckaates
      121 vpcspsplag eirrgtsaas rmitnslnhd sppstpprrp dtstskisvt vsnkmaaksa
      181 kataalarre eeslavpakr rrvtaemegk yvinmpkgtt prtrkileqq qaakglhrts
      241 vfdrlgaetk adtttgskpt gvfsrlgatp etdedlawds dndssssvlq yagvlkklgr
      301 gpakaspqpa ltvkakatss attaaaptlr rlalssrsgl erkpeslskv siikrlgaaa
      361 lvpeaqdsqv tstkstnkta v
//
LOCUS       XP_047299618            1776 aa            linear   PRI 20-MAR-2023
DEFINITION  methylcytosine dioxygenase TET3 isoform X4 [Homo sapiens].
ACCESSION   XP_047299618
VERSION     XP_047299618.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443662.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1776
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1776
                     /product="methylcytosine dioxygenase TET3 isoform X4"
                     /calculated_mol_wt=191767
     Region          50..89
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     Region          <364..733
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          809..>1133
                     /region_name="TET3"
                     /note="oxygenase domain of ten-eleven translocation (TET)3
                     methylcytosine dioxygenase and similar proteins; cd18897"
                     /db_xref="CDD:380676"
     Region          <1619..1747
                     /region_name="Tet_JBP"
                     /note="oxygenase domain of ten-eleven translocation (TET)
                     enzymes, J-binding proteins (JBPs), and similar proteins;
                     cl40427"
                     /db_xref="CDD:394797"
     CDS             1..1776
                     /gene="TET3"
                     /gene_synonym="BEFAHRS; hCG_40738"
                     /coded_by="XM_047443662.1:817..6147"
                     /db_xref="GeneID:200424"
                     /db_xref="HGNC:HGNC:28313"
                     /db_xref="MIM:613555"
ORIGIN      
        1 msqfqvplav qpdlpglydf pqrqvmvgsf pgsglsmags esqlrgggdg rkkrkrcgtc
       61 epcrrlencg actsctnrrt hqicklrkce vlkkkvgllk etgselspvd gpvpgqmdsg
      121 pvyhgdsrql sasgvpvnga repagpsllg tggpwrvdqk pdweaapgpa htarledahd
      181 lvafsavaea vssygalstr lyetfnrems reagnnsrgp rpgpegcsag sedldtlqta
      241 lalarhgmkp pncncdgpec pdylewlegk iksvvmegge erprlpgplp pgeaglpaps
      301 trpllssevp qispqeglpl sqsalsiake knislqtaia iealtqlssa lpqpshstpq
      361 ascplpeals ppapfrspqs ylrapswpvv ppeehssfap dssafppatp rtefpeawgt
      421 dtppatprss wpmprpspdp maeleqllgs asdyiqsvfk rpealptkpk vkveapsssp
      481 apapspvlqr eaptpssepd thqkaqtalq qhlhhkrslf leqvhdtsfp apsepsapgw
      541 wpppsspvpr lpdrppkekk kklptpaggp vgtekaapgi kpsvrkpiqi kksrpreaqp
      601 lfppvrqivl eglrspasqe vqahppaplp asqgsavplp pepslalfap spsrdsllpp
      661 tqemrspspm talqpgstgp lppaddklee lirqfeaefg dsfglpgpps vpiqdpenqq
      721 tclpapespf atrspkqiki essgavtvls ttcfhseegg qeatptkaen pltptlsgfl
      781 esplkyldtp tkslldtpak raqaefptcd cveqivekde gpyythlgsg ptvasirelm
      841 eerygekgka iriekviytg kegkssrgcp iakwvirrht leekllclvr hraghhcqna
      901 vivililawe giprslgdtl yqeltdtlrk ygnptsrrcg lnddrtcacq gkdpntcgas
      961 fsfgcswsmy fngckyarsk tprkfrlagd npkeeevlrk sfqdlateva plykrlapqa
     1021 yqnqvtneei aidcrlglke grpfagvtac mdfcahahkd qhnlyngctv vctltkednr
     1081 cvgkipedeq lhvlplykma ntdefgseen qnakvgsgai qvltafprev rrlpepaksc
     1141 rqrqlearka aaekkkiqke klstpekikq ealelagits dpglslkggl sqqglkpslk
     1201 vepqnhfssf kysgnavves ysvlgncrps dpysmnsvys yhsyyaqpsl tsvngfhsky
     1261 alpsfsyygf pssnpvfpsq flgpgawghs gssgsfekkp dlhalhnsls payggaefae
     1321 lpsqavptda hhptphhqqp aypgpkeyll pkapllhsvs rdpspfaqss ncynrsikqe
     1381 pvdpltqaep vprdagkmgk tplsevsqng gpshlwgqys ggpsmspkrt ngvggswgvf
     1441 ssgespaivp dklssfgasc lapshftdgq wglfpgegqq aashsggrlr gkpwspckfg
     1501 nstsalagps ltekpwalga gdfnsalkgs pgfqdklwnp mkgeegripa agasqldraw
     1561 qsfglplgss eklfgalkse eklwdpfsle egpaeeppsk gavkeekggg gaeeeeeelw
     1621 sdsehnflde niggvavapa hgsiliecar relhattplk kpnrchptri slvfyqhknl
     1681 nqpnhglalw eakmkqlaer ararqeeaar lglgqqeakl ygkkrkwggt vvaepqqkek
     1741 kgvvptrqal avptdsavtv ssyaytkvtg pysrwi
//
LOCUS       XP_024308629             114 aa            linear   PRI 20-MAR-2023
DEFINITION  formiminotransferase N-terminal subdomain-containing protein
            isoform X10 [Homo sapiens].
ACCESSION   XP_024308629
VERSION     XP_024308629.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024452861.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 43% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..114
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..114
                     /product="formiminotransferase N-terminal
                     subdomain-containing protein isoform X10"
                     /calculated_mol_wt=12054
     Region          13..>114
                     /region_name="FTCD_N"
                     /note="Formiminotransferase domain, N-terminal subdomain;
                     pfam07837"
                     /db_xref="CDD:429689"
     CDS             1..114
                     /gene="FTCDNL1"
                     /gene_synonym="FONG"
                     /coded_by="XM_024452861.2:461..805"
                     /db_xref="GeneID:348751"
                     /db_xref="HGNC:HGNC:48661"
                     /db_xref="MIM:614308"
ORIGIN      
        1 msssrvglrl aacllnvsea grkyivenia kaalldkngk khpqvsvlni fsdqdykrsv
       61 itiatsvdkl gssvlaacle afqaidmevq egihpclgav dlipiyplsg vtve
//
LOCUS       XP_011526789            1537 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptonemal complex protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_011526789
VERSION     XP_011526789.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011528487.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1537
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..1537
                     /product="synaptonemal complex protein 2 isoform X1"
                     /calculated_mol_wt=176276
     Region          16..194
                     /region_name="SYCP2_ARLD"
                     /note="Synaptonemal complex 2 armadillo-repeat-like
                     domain; pfam18581"
                     /db_xref="CDD:436595"
     Region          285..396
                     /region_name="SYCP2_SLD"
                     /note="Synaptonemal complex 2 Spt16M-like domain;
                     pfam18584"
                     /db_xref="CDD:436597"
     CDS             1..1537
                     /gene="SYCP2"
                     /gene_synonym="SCP-2; SCP2; SPGF1"
                     /coded_by="XM_011528487.4:209..4822"
                     /db_xref="GeneID:10388"
                     /db_xref="HGNC:HGNC:11490"
                     /db_xref="MIM:604105"
ORIGIN      
        1 mpirpdlqvc sprpkqlekc iddalrkndf kplktllqid icedvkikcs kqffhkvdnl
       61 icrelnkedi hnvsailvsv grcgknisvl gqaglltmik qgliqkmvaw fekskdiiqs
      121 qgnskdeavl nmiedlvdll lvihdvsdeg kkqvvesfvp ricslvidsr vniciqqeii
      181 kkmnamldkm pqdarkilsn qemlilmssm gerildagdy dlqvgiveal crmttekqrq
      241 elahqwfsmd fiakafkrik dsefetdcri flnlvngmlg dkrrvftfpc lsafldkyel
      301 qipsdeklee fwidfnlgsq tlsfyiagdn ddhqweavtv peekvqiysi evreskkllt
      361 iilkntvkis kregkellly fdasleitnv tqkifgatkh resirkqgis vaktslhilf
      421 dasgsqilvp esqispvgee lvslkeksks pkefakpsky iknsdkgnrn nsqlekttps
      481 krkmseasmi vsgadrytmr spvlfsntsi pprrrrikpp lqmtssaekp svsqtsenrv
      541 dnaaslksrs segrhrrdni dkhiktakcv entenknvef pnqnfselqd vipdsqaaek
      601 rdhtilpgvl dnicgnkihs kwacwtpvtn ielcnnqras tssgdtlnqd ivinkkltkq
      661 kssssisdhn segtgkvkyk keqtdhikid kaevevckkh nqqqnhpkys gqkntenakq
      721 sdwpvesett fksvllnkti eesliyrkky ilskdvntat cdknpsaskn vqshrkaeke
      781 ltselnswds kqkkmreksk gkeftnvaes lisqinkryk tkddikstrk lkeslinsgf
      841 snkpvvqlsk ekvqkksyrk lkttfvnvts ecpvndvynf nlngaddpii klgiqefqat
      901 akeacadrsi rlvgprnhde lkssvktkdk kiitnhqkkn lfsdteteyr cddsktdisw
      961 lrepkskpql idysrnknvk nhksgksrss lekgqpsskm tpsknitkkm dktipegrir
     1021 lprkatktkk nykdlsnses eceqefshsf kenipvkeen ihsrmktvkl pkkqqkvfca
     1081 etekelskqw knssllkdai rdncldlspr slsgspssie vtrciekite kdftqdydci
     1141 tksispypkt ssleslnsns gvggtikspk nneknflcas escspiprpl flprhtptks
     1201 ntivnrkkis slvltqetqn snsysdvssy sseerfmeie sphinenyiq skreeshlas
     1261 slskssegre ktwfdmpcda thvsgptqhl srkriyiedn lsnsneveme ekgerranll
     1321 pkklckieda dhhihkmses vsslstndfs ipwetwqnef agiemtyety erlnsefkrr
     1381 nnirhkmlsy fttqswktaq qhlrtmnhqs qdsrikkldk fqfiiieele nfekdsqslk
     1441 dlekefvdfw ekifqkfsay qkseqqrlhl lktslaksvf cntdseetvf tsemclmked
     1501 mkvlqdrllk dmleeellnv rrelmsvfms hernanv
//
LOCUS       XP_047296446             308 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-tocopherol transfer protein-like isoform X2 [Homo sapiens].
ACCESSION   XP_047296446
VERSION     XP_047296446.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440490.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..308
                     /product="alpha-tocopherol transfer protein-like isoform
                     X2"
                     /calculated_mol_wt=34818
     Region          56..102
                     /region_name="CRAL_TRIO_N"
                     /note="CRAL/TRIO, N-terminal domain; smart01100"
                     /db_xref="CDD:215024"
     Region          121..243
                     /region_name="SEC14"
                     /note="Sec14p-like lipid-binding domain. Found in
                     secretory proteins, such as S. cerevisiae
                     phosphatidylinositol transfer protein (Sec14p), and in
                     lipid regulated proteins such as RhoGAPs, RhoGEFs and
                     neurofibromin (NF1). SEC14 domain of Dbl is known to...;
                     cd00170"
                     /db_xref="CDD:238099"
     Site            order(184,216)
                     /site_type="other"
                     /note="salt bridge"
                     /db_xref="CDD:238099"
     CDS             1..308
                     /gene="TTPAL"
                     /gene_synonym="C20orf121"
                     /coded_by="XM_047440490.1:1008..1934"
                     /db_xref="GeneID:79183"
                     /db_xref="HGNC:HGNC:16114"
ORIGIN      
        1 mseesdslrt spsvaslsen elppppeppg yvcsltedlv tkareelqek pewrlrdvqa
       61 lrdmvrkeyp nlstslddaf llrflrarkf dydralqllv nyhscrrswp evfnnlkpsa
      121 lkdvlasgfl tvlphtdprg chvvcirpdr wipsnypite niraiyltle kliqseetqd
      181 gfpirikavh vvneprifkg ifaiikpflk ekianrfflh gsdlnslhtn lprsilpkey
      241 ggtageldta twnavllase ddfvkefcqp vpacdsilgq tllpegltsd aqcddslrav
      301 ksqlyscy
//
LOCUS       XP_047305142            1049 aa            linear   PRI 20-MAR-2023
DEFINITION  brother of CDO isoform X11 [Homo sapiens].
ACCESSION   XP_047305142
VERSION     XP_047305142.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449186.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 13% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1049
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1049
                     /product="brother of CDO isoform X11"
                     /calculated_mol_wt=114727
     Region          26..101
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          43..47
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          57..61
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          80..84
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          94..99
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          136..203
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          145..149
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          158..162
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          173..183
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          193..198
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          220..303
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          237..241
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          250..254
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          271..275
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          285..290
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          298..301
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          311..373
                     /region_name="ISET-FN3_linker"
                     /note="Unstructured linking region I-set and fnIII on
                     Brother of CDO; pfam16625"
                     /db_xref="CDD:435475"
     Region          386..460
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          507..598
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(507,574,589)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(590..591,593..594)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          613..710
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(613,683,698)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(699..700,702..703)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..1049
                     /gene="BOC"
                     /gene_synonym="Boi; CDON2"
                     /coded_by="XM_047449186.1:604..3753"
                     /db_xref="GeneID:91653"
                     /db_xref="HGNC:HGNC:17173"
                     /db_xref="MIM:608708"
ORIGIN      
        1 mthevlstfi psegssskve evdlqdfkld vqhvievdeg ntaviachlp eshpkaqvry
       61 svkqewleas rgnylimpsg nlqivnasqe degmykcaay npvtqevkts gssdrlrvrr
      121 staeaariiy ppeaqtiivt kgqslilecv asgippprvt wakdgssvtg ynktrfllsn
      181 llidttseed sgtyrcmadn gvgqpgaavi lynvqvfepp evtmelsqlv ipwgqsaklt
      241 cevrgnppps vlwlrnavpl issqrlrlsr ralrvlsmgp edegvyqcma enevgsahav
      301 vqlrtsrpsp pgitprlwqd aelatgtppv spsklgnpeq mlrgqpalpr pptsvgpasp
      361 qcpgekgqga paeapiilss prtsktdsye lvwrprhegs grapilyyvv khrkqvtnss
      421 ddwtisgipa nqhrltltrl dpgslyevem aayncagegq tamvtfrtgr rpkpeimask
      481 eqqiqrddpg aspqsssqpd hgrlsppeap drptistase tsvyvtwipr gnggfpiqsf
      541 rveykklkkv gdwilatsai ppsrlsveit glekgtsykf rvralnmlge sepsapsrpy
      601 vvsgysgrvy erpvagpyit ftdavnetti mlkwmyipas nnntpihgfy iyyrptdsdn
      661 dsdykkdmve gdkywhsish lqpetsydik mqcfnegges efsnvmicet karkssgqpg
      721 rlppptlapp qpplpetier pvgtgamvar ssdlpylivg vvlgsivlii vtfipfclwr
      781 awskqkhttd lgfprsalpp scpytmvplg glpghqasgq pylsgisgra cangihmnrg
      841 cpsaavgypg mkpqqhcpge lqqaffsqeq mllllsedwk vtwtprrgrl itlpfeqqsd
      901 tssllrqthl gngydpqshq itrgpksspd egsflytlpd dsthqllqph hdccqrqeqp
      961 aavgqsgvrr apdspvleav wdppfhsgpp cclglvpvee vdspdscqvs ggdwcpqhpv
     1021 gayvgqepgm qlspgplvrv sfetpplti
//
LOCUS       XP_016865038             915 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM13B isoform X2 [Homo sapiens].
ACCESSION   XP_016865038
VERSION     XP_016865038.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009549.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..915
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..915
                     /product="protein FAM13B isoform X2"
                     /calculated_mol_wt=104412
     Region          19..205
                     /region_name="RhoGAP_FAM13A1a"
                     /note="RhoGAP (GTPase-activator protein [GAP] for Rho-like
                     small GTPases) domain of FAM13A1, isoform a-like proteins.
                     The function of FAM13A1a is unknown. Small GTPases cluster
                     into distinct families, and all act as molecular switches,
                     active in their GTP-bound...; cd04393"
                     /db_xref="CDD:239858"
     Site            order(62,99,103,172,175..176,198)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239858"
     Site            62
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239858"
     Region          857..896
                     /region_name="RecQL4_SLD2_NTD"
                     /note="N-terminal homeodomain-like domain of metazoan RecQ
                     protein-like 4 (RecQL4), fungal DNA replication regulator
                     SLD2 and similar proteins; cd22289"
                     /db_xref="CDD:412085"
     CDS             1..915
                     /gene="FAM13B"
                     /gene_synonym="ARHGAP49; C5orf5; FAM13B1; KHCHP; N61"
                     /coded_by="XM_017009549.2:597..3344"
                     /db_xref="GeneID:51306"
                     /db_xref="HGNC:HGNC:1335"
                     /db_xref="MIM:609371"
ORIGIN      
        1 mrkssspsls ncnsvlanki fgipldelqq gghpdnevpf ivrhvvdyie ehggleqqgl
       61 fqvngnaetv ewlrqrydsg eevdlvkead vpsaisllrf flqelpepvi pgslhihlmq
      121 lsqdynnede fgrklrfllq qlppvnysll kflcrflanv ashheeiwsa nslaavfgpd
      181 vfhiytdved mkeqeivsri magllenyye ffeneeedfs sndlssiteq vnelseeeee
      241 deklehieel peegaeksnd mpevvqlrmt enilesnsvt atsthispis ilpastdile
      301 rtiraaveqh lfdlqssidh dlknlqqqsv vcnneaesih cdgegsnnqi diaddiinas
      361 esnrdcskpv astnldneam qqdcvfenee ntqsvgille pcsdrgdsed gclereeyll
      421 fdsdklshli ldssskicdl nantesevpg gqsvgvqgea acvsiphldl knvsdgdkwe
      481 epfpafkswq edsesgeaql spqagrmnhh pleedcppvl shrsldfgqs qrflhdpekl
      541 dssskalsft rirrssfssk dekredrtpy qlvkklqkki rqfeeqfere rnskpsysdi
      601 aanpkvlkwm teltklrkqi kdakhknsdg efvpqtrprs ntlpksfgss ldhedeened
      661 epkviqkekk pskeatleli lkrlkekrie rclpedikkm tkdhlveeka slqksllyye
      721 sqhgrpvtke erhivkplyd ryrlvkqmlt rasitpvlgs pstkrrgqml qpiiegetah
      781 ffeeikeeee dgvnlsselg dmlktavqvq sslensesdv eenqeklald lrlsssraas
      841 mpelleqlwk araekkklrk tlrefeeafy qqngrnaqke drvpvleeyr eykkikaklr
      901 llevliskqd ssksi
//
LOCUS       XP_047275204             648 aa            linear   PRI 20-MAR-2023
DEFINITION  PR domain zinc finger protein 1 isoform X6 [Homo sapiens].
ACCESSION   XP_047275204
VERSION     XP_047275204.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419248.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..648
                     /product="PR domain zinc finger protein 1 isoform X6"
                     /calculated_mol_wt=71698
     Region          <3..74
                     /region_name="SET"
                     /note="SET (Su(var)3-9, Enhancer-of-zeste, Trithorax)
                     domain superfamily; cl40432"
                     /db_xref="CDD:394802"
     Site            order(25..30,41..43,64..67)
                     /site_type="active"
                     /db_xref="CDD:380914"
     Region          457..476
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(461,463,465,467..468,471..472,475,489,491,495..496,
                     499..500,503,517,519,521,523..524,527..528)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          468..493
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          484..504
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          496..521
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          512..530
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..648
                     /gene="PRDM1"
                     /gene_synonym="BLIMP1; PRDI-BF1"
                     /coded_by="XM_047419248.1:146..2092"
                     /db_xref="GeneID:639"
                     /db_xref="HGNC:HGNC:9346"
                     /db_xref="MIM:603423"
ORIGIN      
        1 mekiysrgel hhfidgfnee ksnwmryvnp ahspreqnla acqngmniyf ytikpipanq
       61 ellvwycrdf aerlhypypg eltmmnltqt qsslkqpste knelcpknvp kreysvkeil
      121 kldsnpskgk dlyrsnispl tsekdlddfr rrgspempfy prvvypirap lpedflkasl
      181 aygierptyi trspipsstt pspsarsspd qslksssphs spgntvspvg pgsqehrdsy
      241 aylnasygte glgsypgyap lphlppafip synahypkfl lppygmncng lsavssmngi
      301 nnfglfprlc pvysnllggg slphpmlnpt slpsslpsdg arrllqpehp revlvpaphs
      361 afsftgaaas mkdkacspts gsptagtaat aehvvqpkat saamaapssd eamnliknkr
      421 nmtgyktlpy plkkqngkik yecnvcaktf gqlsnlkvch krfsstsnlk thlrlhsgek
      481 pyqckvcpak ftqfvhlklh krlhtrerph kcsqchknyi hlcslkvhlk gncaaapapg
      541 lpledltrin eeiekfdisd nadrledved disvisvvek eilavvrkek eetglkvslq
      601 rnmgngllss gcslyessdl plmklppsnp lplvpvkvkq etvepmdp
//
LOCUS       XP_006716189             399 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription termination factor 1, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_006716189
VERSION     XP_006716189.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006716126.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..399
                     /product="transcription termination factor 1,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=45647
     Region          76..389
                     /region_name="mTERF"
                     /note="pfam02536"
                     /db_xref="CDD:426819"
     CDS             1..399
                     /gene="MTERF1"
                     /gene_synonym="MTERF"
                     /coded_by="XM_006716126.4:94..1293"
                     /db_xref="GeneID:7978"
                     /db_xref="HGNC:HGNC:21463"
                     /db_xref="MIM:602318"
ORIGIN      
        1 mqslslgqts iskglnylti mapgnlwhmr nnflfgsrcw mtrfsaenif ksvsfrlfgv
       61 kchntdsepl knedllknll tmgvdidmar krqpgvfhrm itneqdlkmf llskgaskev
      121 iasiisrypr aitrtpenls krwdlwrkiv tsdleivnil erspesffrs nnnlnlenni
      181 kflysvgltr kclcrlltna prtfsnsldl nkqmveflqa aglslghndp adfvrkiifk
      241 npfiliqstk rvkanieflr stfnlnseel lvlicgpgae ildlsndyar rsyanikekl
      301 fslgcteeev qkfvlsypdv iflaekkfnd kidclmeeni sisqiienpr vldssistlk
      361 srikelvnag cnlstlnitl lswskkryea klkklsrfa
//
LOCUS       XP_047277585            1019 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein ZFPM2 isoform X2 [Homo sapiens].
ACCESSION   XP_047277585
VERSION     XP_047277585.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421629.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1019
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1019
                     /product="zinc finger protein ZFPM2 isoform X2"
                     /calculated_mol_wt=113174
     Region          <1..75
                     /region_name="SET"
                     /note="SET (Su(var)3-9, Enhancer-of-zeste, Trithorax)
                     domain superfamily; cl40432"
                     /db_xref="CDD:394802"
     Site            order(25..30,42..44,65..68)
                     /site_type="active"
                     /db_xref="CDD:380914"
     Region          166..270
                     /region_name="zf-C2H2_8"
                     /note="C2H2-type zinc ribbon; pfam15909"
                     /db_xref="CDD:435011"
     Region          169..188
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(173,175,177,179..180,183..184,187,210,214,217,
                     220..221,224,238,240,242,244..245,248..249,252)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          205..225
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(205,208,221,225)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          233..253
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..1019
                     /gene="ZFPM2"
                     /gene_synonym="DIH3; FOG2; hFOG-2; SRXY9; ZC2HC11B;
                     ZNF89B"
                     /coded_by="XM_047421629.1:7737..10796"
                     /db_xref="GeneID:23414"
                     /db_xref="HGNC:HGNC:16700"
                     /db_xref="MIM:603693"
ORIGIN      
        1 mdlnnnslkt kaqvpmvlta gpkwlldvtw qgvednknnc ivyskggqlw ctttkaiseg
       61 eeliafvvdf dsrlqaasqm tltegmypar lldsiqllpq qaamasilpt aivnkdifpc
      121 kscgiwyrse rnlqahlmyy csgrqreaap vseenedsah qisslcpfpq ctksfsnara
      181 lemhlnshsg vkmeeflppg aslkctvcsy tadsvinfhq hlfshltqaa frcnhchfgf
      241 qtqrellqhq elhvpsgklp resdmehsps atedslqpat dlltrselpq sqkamqtkda
      301 ssdteldkce kktqlfltnq rpeiqpttnk qsfsytkiks epssprlass pvqpnigpsf
      361 pvgpflsqfs fpqditmvpq aseilakmse lvhrrlrhgs ssyppviysp lmpkgatcfe
      421 cnitfnnldn ylvhkkhycs srwqqmaksp efpsvsekmp ealspntgqt sinllnpaah
      481 sadpenpllq tscinsstvl dligpngkgh dkdfstqtkk lstssnnddk ingkpvdvkn
      541 psvplvdges dpnkttceac nitfsrhety mvhkqyycat rhdpplkrsa snkvpamqrt
      601 mrtrkrrkmy emclpeqeqr pplvqqrfld vanlnnpcts tqepteglge cyhprcdifp
      661 givskhlets ltinkcvpvs kcdtthssvs clemdvpidl skkclsqser tttspkrlld
      721 yhectvckis fnkvenylah kqnfcpvtah qrndlgqldg kvfpnpeser nspdvsyers
      781 iikcekngnl kqpspngnlf sshlatlqgl kvfseaaqli atkeenrhlf lpqclypgai
      841 kkakgadqls pyygikpsdy isgslvihnt dieqsrnaen espkgqassn gcaalkkdsl
      901 pllpknrgmv ivngglkqde rpaanpqqen isqnpqhedd hkspswisen plaanenvsp
      961 gipsaeeqls siakgvngss qaptsgkycr lcdiqfnnls nfithkkfyc sshaaehvk
//
LOCUS       XP_011516716            1145 aa            linear   PRI 20-MAR-2023
DEFINITION  constitutive coactivator of PPAR-gamma-like protein 1 isoform X2
            [Homo sapiens].
ACCESSION   XP_011516716
VERSION     XP_011516716.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011518414.4
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1145
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1145
                     /product="constitutive coactivator of PPAR-gamma-like
                     protein 1 isoform X2"
                     /calculated_mol_wt=125070
     Region          5..220
                     /region_name="PIN_SF"
                     /note="PIN (PilT N terminus) domain: Superfamily; cl28905"
                     /db_xref="CDD:452894"
     Site            order(49,167,186,188)
                     /site_type="active"
                     /db_xref="CDD:350203"
     CDS             1..1145
                     /gene="FAM120A"
                     /gene_synonym="C9orf10; HBVPTPAP; OSSA"
                     /coded_by="XM_011518414.4:232..3669"
                     /db_xref="GeneID:23196"
                     /db_xref="HGNC:HGNC:13247"
                     /db_xref="MIM:612265"
ORIGIN      
        1 mgvqgfqdyi ekhcpsavvp velqklargs lvgggrqrpp qtplrllvda dnclhrlygg
       61 fytdwvsggq wnhmlgylaa lakacfggni elfvffngal ekarlhewvk rqgnerqtaq
      121 qivshvqnkg tpppkvwflp pvcmahcirl alirfhvkva qsiedhhqev igfcrengfh
      181 glvaydsdya lcnipyyfsa halklsrngk slttsqylmh evakqldlnp nrfpifaall
      241 gnhilpdedl asfhwsllgp ehplaslkvr ahqlvlppcd vvikavadyv rniqdtsdld
      301 aiakdvfqhs qsrtddkvir fkraigyysa tskpmsfhpp hylarpgpfg mpgmvpphvp
      361 pqmlnipqts lqakpvapqv pspggapgqg pypyslsepa pltldtsgkn lteqnsysni
      421 phegkhtply ersspinpaq sgspnhvdsa yfpgsstsss sdndegsgga tkpfqlylqk
      481 nfvfhkensi vlcsrilrhg hisgnkigwe ktgshsepqa rgdpgdqtka egsstassgs
      541 qlaegkgsqm gtvqpipcll smptrnhmdi ttpplppvap evlrvaehrh kkglmypyif
      601 hvltkgeiki avsiedeank dlppaallyr pvrqyvygvl fslaesrkkt erlafrknrl
      661 ppefspviik ewaaykgksp qtpelveala frewtcpnlk rlwlgkaved knrrmrafla
      721 cmrsdtpaml npanvpthlm vlccvlrymv qwpgarilrr qeldaflaqa lspklyepdq
      781 lqelkienld prgiqlsalf msgvdmalfa ndacgqpipw ehccpwmyfd gklfqskllk
      841 asrektplid lcdgqadqaa kvekmrqsvl eglsfsrqsh tlpfppppal pfypasaypr
      901 hfgpvppsqg rgrgfagvcg fggpygetva tgpyrafrva aasghcgafs gsdssrtsks
      961 qggvqpipsq ggkleiagtv vghwagsrrg rggrgpfplq vvsvggparg rprgvistpv
     1021 irtfgrggry ygrgyknqaa iqgrppyaas aeevakelks ksgeskssam ssdgslaeng
     1081 vmaeekpapq mngstgdara pshsesalnn dsktcntnph lnalstdsac rreaaleaav
     1141 lnkee
//
LOCUS       XP_047279177             956 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box only protein 10 isoform X2 [Homo sapiens].
ACCESSION   XP_047279177
VERSION     XP_047279177.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423221.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..956
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..956
                     /product="F-box only protein 10 isoform X2"
                     /calculated_mol_wt=105065
     Region          2..51
                     /region_name="F-box_FBXO10"
                     /note="F-box domain found in F-box only protein 10
                     (FBXO10) and similar proteins; cd22090"
                     /db_xref="CDD:438862"
     Site            order(6,10,13..14,17..18,22,24..25,29..31,33)
                     /site_type="other"
                     /note="putative Skp1 binding site [polypeptide binding]"
                     /db_xref="CDD:438862"
     Region          464..610
                     /region_name="Beta_helix"
                     /note="Right handed beta helix region; pfam13229"
                     /db_xref="CDD:433046"
     Region          579..775
                     /region_name="Beta_helix"
                     /note="Right handed beta helix region; pfam13229"
                     /db_xref="CDD:433046"
     Region          722..865
                     /region_name="Beta_helix"
                     /note="Right handed beta helix region; pfam13229"
                     /db_xref="CDD:433046"
     CDS             1..956
                     /gene="FBXO10"
                     /gene_synonym="FBX10; PRMT11"
                     /coded_by="XM_047423221.1:958..3828"
                     /db_xref="GeneID:26267"
                     /db_xref="HGNC:HGNC:13589"
                     /db_xref="MIM:609092"
ORIGIN      
        1 meagglplel wrmilaylhl pdlgrcslvc rawyelilsl dstrwrqlcl gctecrhpnw
       61 pnqpdvepes wreafkqhyl asktwtknal dlessicfsl frrrrerrtl svgpgrefds
      121 lgsalamasl ydrivlfpgv yeeqgeiilk vpveivgqgk lgevallasi dqhcsttrlc
      181 nlvftpawfs pimykttsgh vqfdncnfen ghiqvhgpgt cqvkfctfkn thiflhnvpl
      241 cvlencefvg sennsvtveg hpsadknway kyllglikss ptflptedsd flmsldlesr
      301 dqawspktcd iviegsqspt spassspkpg skagsqeaev gsdgervaqt pdssdgglsp
      361 sgedededql myrlsyqvqg prpvlggsfl gpplpgasiq lpsclvlnsl qqelqkdkea
      421 malansvqgc lirkclfrdg kggvfvcshg rakmegnifr nltyavrcih nskiimlrnd
      481 iyrcrasgif lrleggglia gnniyhnaea gvdirkksnp lilcnqihhg lrsgivvlgn
      541 gkgiirnnqi fsnkeagiyi lyhgnpvvsg nhifkgraag iavnengkgl itenvirenq
      601 wggvdirrgg ipvlrsnlic fgysdgvvvg degkgliegn tiyankgcgv wmmssslphv
      661 tsnhvsyngl ygvavfsqkd gsselprghr aqenfsedgd ailwetelek eddplrrpit
      721 ialvesnsin hngasglyvq ssealhvitn vihangdrgi tvaqssqptr vannsiscnr
      781 qsgvkveaqc kvelrgngiy dnrghgiitk gdstiviend iignrgsglq llprsdtkvi
      841 knrihsfray giavrgraka lvqeniifqg ktsktifqqi snnrecimqn nkflvfkkks
      901 dtwrlvnppa rphlenslrr psaahngqkv tamatritar veggyhsnrs vfctil
//
LOCUS       XP_006716951            2041 aa            linear   PRI 20-MAR-2023
DEFINITION  multiple PDZ domain protein isoform X3 [Homo sapiens].
ACCESSION   XP_006716951
VERSION     XP_006716951.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006716888.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2041
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..2041
                     /product="multiple PDZ domain protein isoform X3"
                     /calculated_mol_wt=218377
     Region          6..63
                     /region_name="L27_2"
                     /note="pfam09045"
                     /db_xref="CDD:312549"
     Region          139..221
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(147..150,152,205..206,209..210)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          257..334
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(266..269,271,318..319,322..323)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          374..463
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(386..389,391,444..445,448..449)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          560..629
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(564..567,569,615..616,619..620)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          698..784
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(709..712,714,767..768,771..772)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1006..1076
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1017..1020,1022,1070..1071,1074..1075)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1149..1240
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1161..1164,1166,1224..1225,1228..1229)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1347..1433
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(1359..1362,1364,1414..1415,1418..1419)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1481..1560
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1492..1495,1497,1545..1546,1549..1550)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1562..1626
                     /region_name="MPDZ_u10"
                     /note="Unstructured region 10 on multiple PDZ protein;
                     pfam16667"
                     /db_xref="CDD:435500"
     Region          1627..1711
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(1638..1641,1643,1693..1694,1697..1698)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1725..1799
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1735..1738,1740,1788..1789,1792..1793)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1831..1916
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1843..1846,1848,1900..1901,1904..1905)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1957..2040
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1967..1970,1972,2024..2025,2028..2029)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     CDS             1..2041
                     /gene="MPDZ"
                     /gene_synonym="HYC2; MUPP1"
                     /coded_by="XM_006716888.4:187..6312"
                     /db_xref="GeneID:8777"
                     /db_xref="HGNC:HGNC:7208"
                     /db_xref="MIM:603785"
ORIGIN      
        1 mleaidknra lhaaerlqtk lrergdvane dklsllksvl qsplfsqils lqtsvqqlkd
       61 qvniatsats nieyahvphl spaviptlqn esfllspnng nlealtgpgi phingkpacd
      121 efdqliknma qgrhvevfel lkppsgglgf svvglrsenr gelgifvqei qegsvahrdg
      181 rlketdqila ingqaldqti thqqaisilq kakdtvqlvi argslpqlvs pivsrspsaa
      241 stisahsnpv hwqhmetiel vndgsglgfg iiggkatgvi vktilpggva dqhgrlcsgd
      301 hilkigdtdl agmsseqvaq vlrqcgnrvk lmiargaiee rtaptalgit lsssptstpe
      361 lrvdastqkg eesetfdvel tknvqglgit iagyigdkkl epsgifvksi tkssavehdg
      421 riqigdqiia vdgtnlqgft nqqavevlrh tgqtvlltlm rrgmkqeael msredvtkda
      481 dlspvnasii kenyekdedf lsstrntnil pteeegypll saeieeieda qkqeaalltk
      541 wqrimginye ivvahvskfs ensglgisle atvghhfirs vlpegpvghs gklfsgdell
      601 evngitllge nhqdvvnilk elpievtmvc crrtvppttq seldsldlcd ieltekphvd
      661 lgefigsset edpvlamtda gqsteevqap lamweagiqh ielekgskgl gfsildyqdp
      721 idpastviii rslvpggiae kdgrllpgdr lmfvndvnle nssleeavea lkgapsgtvr
      781 igvakplpls peegyvsake dsflypphsc eeagladkpl fradlalvgt ndadlvdest
      841 fespyspend siystqasil slhgsscgdg lnygsslpss ppkdviensc dpvldlhmsl
      901 eelytqnllq rqdentpsvd ismgpasgft indytpanai eqqyecenti vwteshlpse
      961 vissaelpsv lpdsagkgse ylleqsslac naecvmlqnv skesfertin iakgnsslgm
     1021 tvsankdglg mivrsiihgg aisrdgriai gdcilsinee stisvtnaqa ramlrrhsli
     1081 gpdikityvp aehleefkis lgqqsgrvma ldifssytgr dipelperee gegeeselqn
     1141 taysnwnqpr rvelwrepsk slgisivggr gmgsrlsnge vmrgifikhv ledspagkng
     1201 tlkpgdrive vdgmdlrdas heqaveairk agnpvvfmvq siinrprksp lpsllhnlyp
     1261 kynfsstnpf adslqinadk apsqsesepe kaplcsvppp ppsafaemgs dhtqssaski
     1321 sqdvdkedef gyswknirer ygtltgelhm ielekghsgl glslagnkdr srmsvfivgi
     1381 dpngaagkdg rlqiadelle ingqilygrs hqnassiikc apskvkiifi rnkdavnqma
     1441 vcpgnavepl psnsenlqnk eteptvttsd aavdlssfkn vqhlelpkdq gglgiaisee
     1501 dtlsgviiks ltehgvaatd grlkvgdqil avddeivvgy piekfisllk takmtvklti
     1561 haenpdsqav psaagaasge kknssqslmv pqsgspepes irntsrsstp aifasdpatc
     1621 piipgcetti eiskgrtglg lsivggsdtl lgaiiihevy eegaackdgr lwagdqilev
     1681 ngidlrkath deainvlrqt pqrvrltlyr deapykeeev cdtltielqk kpgkglglsi
     1741 vgkrndtgvf vsdivkggia dadgrlmqgd qilmvngedv rnatqeavaa llkvsegsls
     1801 sftfplsgss tseslesssk knalaseiqg lrtvemkkgp tdslgisiag gvgsplgdvp
     1861 ifiammhptg vaaqtqklrv gdrivticgt stegmthtqa vnllknasgs iemqvvaggd
     1921 vsvvtghqqe passslsftg ltsssifqdd lgppqcksit lergpdglgf sivggygsph
     1981 gdlpiyvktv fakgaasedg rlkrgdqiia vngqslegvt heeavailkr tkgtvtlmvl
     2041 s
//
LOCUS       XP_054185593             207 aa            linear   PRI 20-MAR-2023
DEFINITION  probable DNA dC->dU-editing enzyme APOBEC-3A isoform X1 [Homo
            sapiens].
ACCESSION   XP_054185593
VERSION     XP_054185593.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329618.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003315972.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..207
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     Protein         1..207
                     /product="probable DNA dC->dU-editing enzyme APOBEC-3A
                     isoform X1"
                     /calculated_mol_wt=23693
     CDS             1..207
                     /gene="APOBEC3A_B"
                     /gene_synonym="A3A; APOBEC3A"
                     /coded_by="XM_054329618.1:219..842"
                     /db_xref="GeneID:100913187"
                     /db_xref="HGNC:HGNC:44196"
ORIGIN      
        1 measpasgpr hlmdphifts nfnngigrhk tylcyeverl dngtsvkmdq hrgflhnqak
       61 nllcgfygrh aelrfldlvp slqldpaqiy rvtwfiswsp cfswgcagev raflqenthv
      121 rlrifaariy dydplykeal qmlrdagaqv simtydesgk lkdgpqslrk aetwveqqnk
      181 rssskkckqt vhhhlqlltd tskamcs
//
LOCUS       XP_047298933             294 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124901299 isoform X5 [Homo sapiens].
ACCESSION   XP_047298933
VERSION     XP_047298933.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442977.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167245.2) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..294
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..294
                     /product="uncharacterized protein LOC124901299 isoform X5"
                     /calculated_mol_wt=31731
     CDS             1..294
                     /gene="LOC124901299"
                     /coded_by="XM_047442977.1:340..1224"
                     /db_xref="GeneID:124901299"
ORIGIN      
        1 mqkigpekds evqtsvmslg ltdvstgkrq lrlglkpfkp ppppllrfcs qgdrrkhqrd
       61 evsesetsvt erkmesqrav gvwgaggtty lshwpclcap gpkpqkdsvs dwaivlitlt
      121 lvaaivslmy gikkacqfrr emslgcgcgs vtpysshheg eaasqryscq mkgrflgsla
      181 ppglfhpqrk eestvshkil lsvlppamqt agrcpaspra vfssvegrtr akwsagtfqp
      241 srspgldswn pcpspslpsp tllpddqrss laedslltas lltslhrepp qags
//
LOCUS       XP_054191814             524 aa            linear   PRI 20-MAR-2023
DEFINITION  tissue-resident T-cell transcription regulator protein ZNF683
            isoform X5 [Homo sapiens].
ACCESSION   XP_054191814
VERSION     XP_054191814.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335839.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..524
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..524
                     /product="tissue-resident T-cell transcription regulator
                     protein ZNF683 isoform X5"
                     /calculated_mol_wt=56775
     CDS             1..524
                     /gene="ZNF683"
                     /gene_synonym="Hobit"
                     /coded_by="XM_054335839.1:164..1738"
                     /db_xref="GeneID:257101"
                     /db_xref="HGNC:HGNC:28495"
                     /db_xref="MIM:616775"
ORIGIN      
        1 mkeesaaqlg cchrpmalgg tggslspsld fqlfrgdqvf sacrplpdmv dahgpscasw
       61 lcplplapgr sallaclqdl dlnlctpqpa plgtdlqglq edalsmkhep pglqasstdd
      121 kkftvkypqn kdklgkqper agegapcpaf sshnsssppp lqnrkspspl afcpcppvns
      181 iskelpfllh afypgyplll ppphlftyga lpsdqcphll mlpqdpsypt mampsllmmv
      241 nelghpsarw etllpypgaf qasgqalpsq arnpgagaap tdspglergg maspakrvpl
      301 ssqtgtaalp yplkkkngki lyecnicgks fgqlsnlkvh lrvhsgerpf qcalcqksft
      361 qlahlqkhhl vhtgerphkc sipwvpgrnh wksfqawrer evchkrfsss snlkthlrlh
      421 sgarpfqcsv crsrftqhih lklhhrlhap qpcglvhtql plaslaclaq whqgaldlma
      481 vasekhmgyd idevkvssts qgkaravsls sagtplvmgq dqnn
//
LOCUS       XP_054194633            1518 aa            linear   PRI 20-MAR-2023
DEFINITION  PR domain zinc finger protein 2 isoform X4 [Homo sapiens].
ACCESSION   XP_054194633
VERSION     XP_054194633.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338658.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1518
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1518
                     /product="PR domain zinc finger protein 2 isoform X4"
                     /calculated_mol_wt=166028
     CDS             1..1518
                     /gene="PRDM2"
                     /gene_synonym="HUMHOXY1; KMT8; KMT8A; MTB-ZF; RIZ; RIZ1;
                     RIZ2"
                     /coded_by="XM_054338658.1:330..4886"
                     /db_xref="GeneID:7799"
                     /db_xref="HGNC:HGNC:9347"
                     /db_xref="MIM:601196"
ORIGIN      
        1 mrdsaegpke deekpsasal eqpatlqeva sqevppelat papawepqpe pderleaaac
       61 evndlgeeee eeeeedeeee edddddeled egeeeasmpn ensvkepeir cdekpedlle
      121 epkttseetl edcsevtpam qiprtkeean gdvfetfmfp cqhcerkftt kqglerhmhi
      181 histvnhafk ckycgkafgt qinrrrherr heaglkrkps qtlqpsedla dgkasgenva
      241 skddssppsl gpdclimnse kasqdtinss vveengevke lhpckyckkv fgthtnmrrh
      301 qrrvherhli pkgvrrkggl eepqppaeqa qatqnvyvps tepeeegead dvyimdissn
      361 isenlnyyid gkiqtnnnts ncdviemesa sadlygincl ltpvtveitq nikttqvpvt
      421 edlpkeplgs tnseakkrrt asppalpkik aetdsdpmvp scslslplsi stteavsfhk
      481 eksvylsskl kqllqtqdkl tppagisate iaklgpvcvs apasmlpvts srfkrrtssp
      541 psspqhspal rdfgkpsdgk aawtdaglts kkskleshsd spawslsgrd eretvsppcf
      601 deykmskewt assafssvcn qqpldlssgv kqkaegtgkt pvqwesvldl svhkkhcsds
      661 egkefkeshs vqptcsavkk rkpttcmlqk vllneyngid lpvenpadgt rspspcksle
      721 aqpdpdlgpg sgfpaptves tpdvcpsspa lqtpslssgq lpplliptdp sspppcppvl
      781 tvatppppll ptvplpapss sasphpcpsp lsnataqspl pilsptvsps pspippvepl
      841 msaaspgppt lsssssssss sssfssssss sspsppplsa issvvssgdn leaslpmisf
      901 kqeelenegl kpreepqsaa eqdvvvqetf nknfvcnvce spflsikdlt khlsihaeew
      961 pfkcefcvql fkdktdlseh rfllhgvgni fvcsvckkef aflcnlqqhq rdlhpdkvct
     1021 hhefesgtlr pqnftdpska hvehmqslpe dpletskeee elndsseely ttikimasgi
     1081 ktkdpdvrlg lnqhypsfkp ppfqyhhrnp mgigvtatnf tthnipqtft tairctkcgk
     1141 gvdnmpelhk hilacasasd kkrytpkknp vplkqtvqpk ngvvvldnsg knafrrmgqp
     1201 krlnfsvels kmssnklkln alkkknqlvq kailqknksa kqkadlknac essshicpyc
     1261 nreftyigsl nkhaafscpk kplsppkkkv shsskkgghs spassdknsn snhrrrtada
     1321 eikmqsmqtp lgktrarssg ptqvplpsss frskqnvkfa asvkskkpss sslrnsspir
     1381 makithvegk kpkavaknhs aqlssktsrs lhvrvqkska vlqskstlas kkrtdrfnik
     1441 srersggpvt rslqlaaaad lsenkredgs akqelkdfsy slrlasrcsp paapyitrqy
     1501 rkvkapaaaq fqgpffke
//
LOCUS       XP_054222898             307 aa            linear   PRI 20-MAR-2023
DEFINITION  palmitoyltransferase ZDHHC16 isoform X8 [Homo sapiens].
ACCESSION   XP_054222898
VERSION     XP_054222898.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366923.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..307
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..307
                     /product="palmitoyltransferase ZDHHC16 isoform X8"
                     /calculated_mol_wt=34851
     CDS             1..307
                     /gene="ZDHHC16"
                     /gene_synonym="APH2; DHHC-16"
                     /coded_by="XM_054366923.1:365..1288"
                     /db_xref="GeneID:84287"
                     /db_xref="HGNC:HGNC:20714"
                     /db_xref="MIM:616750"
ORIGIN      
        1 mrgqrslllg parlclrlll llgyrrrcpp llrglvqrwr ygkvclrsll ynsfggsdta
       61 vdaafepvyw lvdnvirwfg vvfvvlvivl tgsivaiayl cvlplilrty svprlcwhff
      121 yshwnliliv fhyyqaittp pgyppqgrnd iatvsickkc iypkparthh csicnrcvlk
      181 mdhhchilpp alsklptslr psflssvala lgaltvwhav lisrgetsie rhinkkerrr
      241 lqakgrvfrn pynygcldnw kvflgvdtgr hwltrvllps shlphgngms wepppwvtah
      301 sasvmav
//
LOCUS       XP_054224215             805 aa            linear   PRI 20-MAR-2023
DEFINITION  glutamate carboxypeptidase 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054224215
VERSION     XP_054224215.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368240.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..805
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..805
                     /product="glutamate carboxypeptidase 2 isoform X1"
                     /calculated_mol_wt=89970
     CDS             1..805
                     /gene="FOLH1"
                     /gene_synonym="FGCP; FOLH; GCP2; GCPII; mGCP; NAALAD1;
                     PSM; PSMA"
                     /coded_by="XM_054368240.1:231..2648"
                     /db_xref="GeneID:2346"
                     /db_xref="HGNC:HGNC:3788"
                     /db_xref="MIM:600934"
ORIGIN      
        1 mwnllhetds avatarrprw lcagalvlag gffllgflfg rgaprganlg vfpvvprcwd
       61 srvksqlqgl mtagssyplf laayactgcl aerlgwfiks sneatnitpk hnmkafldel
      121 kaenikkflh nftqiphlag teqnfqlakq iqsqwkefgl dsvelahydv llsypnkthp
      181 nyisiinedg neifntslfe ppppgyenvs divppfsafs pqgmpegdlv yvnyartedf
      241 fklerdmkin csgkiviary gkvfrgnkvk naqlagakgv ilysdpadyf apgvksypdg
      301 wnlpgggvqr gnilnlngag dpltpgypan eyayrrgiae avglpsipvh pigyydaqkl
      361 lekmggsapp dsswrgslkv pynvgpgftg nfstqkvkmh ihstnevtri ynvigtlrga
      421 vepdryvilg ghrdswvfgg idpqsgaavv heivrsfgtl kkegwrprrt ilfaswdaee
      481 fgllgstewa eensrllqer gvayinadss iegnytlrvd ctplmyslvh nltkelkspd
      541 egfegkslye swtkkspspe fsgmpriskl gsgndfevff qrlgiasgra rytknwetnk
      601 fsgyplyhsv yetyelvekf ydpmfkyhlt vaqvrggmvf elansivlpf dcrdyavvlr
      661 kyadkiysis mkhpqemkty svsfdslfsa vknfteiask fserlqdfdk snpivlrmmn
      721 dqlmfleraf idplglpdrp fyrhviyaps shnkyagesf pgiydalfdi eskvdpskaw
      781 gevkrqiyva aftvqaaaet lseva
//
LOCUS       XP_054224232             520 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA polymerase alpha subunit B isoform X4 [Homo sapiens].
ACCESSION   XP_054224232
VERSION     XP_054224232.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368257.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..520
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..520
                     /product="DNA polymerase alpha subunit B isoform X4"
                     /calculated_mol_wt=56973
     CDS             1..520
                     /gene="POLA2"
                     /coded_by="XM_054368257.1:332..1894"
                     /db_xref="GeneID:23649"
                     /db_xref="HGNC:HGNC:30073"
                     /db_xref="MIM:620063"
ORIGIN      
        1 msasaqqlae elqifgldce ealieklvel cvqygqneeg mvgeliafct sthkvgltse
       61 ilnsfehefl skrlskarhs tckdsghaga rdivsiqeli eveeeeeill nsyttpskgs
      121 qkraistpet pltkrsvstr sphqllspss fspsatpsqk ynsrsnrgev vtsfglaqgv
      181 swsgrggagn islkvlgcpe altgsyksmf qklpdirevl tckieelgse lkehykieaf
      241 tpllapaqep vtllgqigcd sngklnnksv ilegdrehss gaqipvdlse lkeyslfpgq
      301 vvimegintt grklvatkly egvplpfyqp teedadfeqs mvlvacgpyt tsdsitydpl
      361 ldliavinhd rpdvcilfgp fldakheqve nclltspfed ifkqclrtii egtrssgshl
      421 vfvpslrdvh hepvypqppf sysdlsredk kqvqfvsepc slsingvifg ltstdllfhl
      481 gaeeissssg tsdrfsrilk hiltqrscls pqmssssrqs
//
LOCUS       XP_054225048             681 aa            linear   PRI 20-MAR-2023
DEFINITION  PHD finger protein 21A isoform X5 [Homo sapiens].
ACCESSION   XP_054225048
VERSION     XP_054225048.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369073.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..681
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..681
                     /product="PHD finger protein 21A isoform X5"
                     /calculated_mol_wt=74851
     CDS             1..681
                     /gene="PHF21A"
                     /gene_synonym="BHC80; BM-006; IDDBCS; NEDMS"
                     /coded_by="XM_054369073.1:328..2373"
                     /db_xref="GeneID:51317"
                     /db_xref="HGNC:HGNC:24156"
                     /db_xref="MIM:608325"
ORIGIN      
        1 melqtlqeal kveiqvhqkl vaqmkqdpqn adlkkqlhel qakitalsek qkrvveqlrk
       61 nlivkqeqpd kfqiqplpqs enklqtaqqq plqqlqqqqq yhhhhaqqsa aaspnltasq
      121 ktvttasmit tktlplvlka atatmpasvv gqrptiamvt ainsqkavls tdvqntpvnl
      181 qtsskvtgpg aeavqivakn tvtlqvqatp pqpikvpqfi ppprltprpn flpqvrpkpv
      241 aqnnipiapa pppmlaapql iqrpvmltkf tpttlptsqn sihpvrvvng qtatiaktfp
      301 maqltsivia tpgtrlagpq tvqlskpsle kqtvkshtet dekqtesrti tppaapkpkr
      361 eenpqklafm vslglvthdh leeiqskrqe rkrrttanpv ysgavfeper kksavtylns
      421 tmhpgtrkrg rppkynavlg fgaltptspq sshpdspene ktettftfpa pvqpvslpsp
      481 tstdgdihed fcsvcrksgq llmcdtcsrv yhldcldppl ktipkgmwic prcqdqmlkk
      541 eeaipwpgtl aivhsyiayk aakeeekqkl lkwssdlkqe reqleqkvkq lsnsiskcme
      601 mkntilarqk emhsslekvk qlirlihgid lskpvdseat vgaisngpdc tppanaatst
      661 papspssqsc tancnqgeet k
//
LOCUS       XP_054226217             663 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein phosphatase non-receptor type 5 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054226217
VERSION     XP_054226217.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370242.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 44% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..663
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..663
                     /product="tyrosine-protein phosphatase non-receptor type 5
                     isoform X5"
                     /calculated_mol_wt=72879
     CDS             1..663
                     /gene="PTPN5"
                     /gene_synonym="PTPSTEP; STEP; STEP61"
                     /coded_by="XM_054370242.1:1250..3241"
                     /db_xref="GeneID:84867"
                     /db_xref="HGNC:HGNC:9657"
                     /db_xref="MIM:176879"
ORIGIN      
        1 mccserlpgl pqpivmeald eaeglqdsqr emppppppsp psdpaqkppp rgagshsltv
       61 rsslclfaas qflleptawl dsgtwgvpsl llvflsvglv lvttlvwhll rtpaepptpl
      121 ppedrrqsvs rqpsftysew meekieddfl dldpvpetpv fdcvmdikpe adptsltvks
      181 mglqerrgsn vsltldmctp gcneegfgyl mspreesare yllsasrvlq aeelhekald
      241 pfllqaeffe ipmnfvdpke ydipglvrkn ryktilpnph srvcltspdp ddplssyina
      301 nyirgyggee kvyiatqgpi vstvadfwrm vwqehtpiiv mitnieemne kcteywpeeq
      361 vaydgveitv qkvihtedyr lrlislkcrd wedrllhchq hllpaaaagg cgghpedhvp
      421 apsgqgrhdp dmravpvcap rheplrkaav ppvprmtall lqgslgtaqp esrpspralp
      481 rvlgllpass psvsslcpls awpdpyppal lfllyilgsg gqgregtcqa rpgapgpdph
      541 hadpglqflt mvpsipdpec fratlcvllq cvlsvhpslp svpdtvspqp grgnelqpls
      601 nrtclprphp hfsqkaddge lgmgssrrsp esfqlressl gwsghhsqgg lwvsdalrrv
      661 psl
//
LOCUS       XP_054227455             423 aa            linear   PRI 20-MAR-2023
DEFINITION  forkhead box protein M1 isoform X3 [Homo sapiens].
ACCESSION   XP_054227455
VERSION     XP_054227455.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371480.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..423
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..423
                     /product="forkhead box protein M1 isoform X3"
                     /calculated_mol_wt=47241
     CDS             1..423
                     /gene="FOXM1"
                     /gene_synonym="FKHL16; FOXM1A; FOXM1B; FOXM1C; HFH-11;
                     HFH11; HNF-3; INS-1; MPHOSPH2; MPP-2; MPP2; PIG29;
                     TRIDENT"
                     /coded_by="XM_054371480.1:303..1574"
                     /db_xref="GeneID:2305"
                     /db_xref="HGNC:HGNC:3818"
                     /db_xref="MIM:602341"
ORIGIN      
        1 mktsprrpli lkrrrlplpv qnapsetsee epkrspaqqe snqaeaskev aesnsckfpa
       61 gikiinhptm pntqvvaipn nanihsiita ltakgkesgs sgpnkfilis cggaptqppg
      121 lrpqtqtsyd akrtevtlet lgpkpaardv nlprppgalc eqkretcadg eaagctinns
      181 lsniqwlrkm ssdglgsrsi kqemeekenc hleqrqvkve epsrpsaswq nsvserppys
      241 ymamiqfain sterkrmtlk diytwiedhf pyfkhiakpg wknsirhnls lhdmfvrets
      301 angkvsfwti hpsanryltl dqvfkqqqkr pnpelrrnmt iktelplgar rkmkpllprv
      361 ssylvpiqfp vnqslvlqps vkvplplaas lmsselarhs krvriapkvf geqvvfgyms
      421 aas
//
LOCUS       XP_054229123             424 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 140 isoform X3 [Homo sapiens].
ACCESSION   XP_054229123
VERSION     XP_054229123.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373148.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..424
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..424
                     /product="zinc finger protein 140 isoform X3"
                     /calculated_mol_wt=48864
     CDS             1..424
                     /gene="ZNF140"
                     /gene_synonym="pHZ-39"
                     /coded_by="XM_054373148.1:306..1580"
                     /db_xref="GeneID:7699"
                     /db_xref="HGNC:HGNC:12925"
                     /db_xref="MIM:604082"
ORIGIN      
        1 mlenyghlvs laglsiskpd vvslleqgke pwlgkrevkr dlfsvsessg eikdfspknv
       61 iyddssqyli merilsqgpv yssfkggwkc kdhtemlqen qgcirkvtvs hqealaqhmn
      121 istverpygc hecgktfgrr fslvlhqrth tgekpyacke cgktfsqisn lvkhqmihtg
      181 kkpheckdcn ktfsylsfli ehqrthtgek pyectecgka fsrasnltrh qrihigkkqy
      241 icrkcgkafs sgselirhqi thtgekpyec iecgkafrrf shltrhqsih ttktpyecne
      301 crkafrchsf likhqrihag eklyecdecg kvftwhasli qhtkshtgek pyacaecdka
      361 fsrsfslilh qrthtgekpy vckvcnksfs wssnlakhqr thtldnpyey ensfnyhsfl
      421 tehq
//
LOCUS       XP_054229909            1137 aa            linear   PRI 20-MAR-2023
DEFINITION  C2 domain-containing protein 5 isoform X4 [Homo sapiens].
ACCESSION   XP_054229909
VERSION     XP_054229909.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373934.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1137
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1137
                     /product="C2 domain-containing protein 5 isoform X4"
                     /calculated_mol_wt=125223
     CDS             1..1137
                     /gene="C2CD5"
                     /gene_synonym="CDP138; KIAA0528"
                     /coded_by="XM_054373934.1:253..3666"
                     /db_xref="GeneID:9847"
                     /db_xref="HGNC:HGNC:29062"
                     /db_xref="MIM:618044"
ORIGIN      
        1 mpgklkvkiv agrhlpvmdr asdltdafve vkfgnttfkt dvylkslnpq wnsewfkfev
       61 ddedlqdepl qitvldhdty sandaigkvy ididpllyse aatvisgwfp iydtihgirg
      121 einvvvkvdl fndlnrfrqs scgvkffctt sipkcyravi ihgfveelvv nedpeyqwid
      181 rirtprasne arqrlislms gelqrkiglk vlemrgnavv gylqcfdleg esglvvraig
      241 tactldklss paaflpacns pskemkeipf nedpnpnths sgpstplknq tysfspsksy
      301 srqssssdtd lsltpktapy pqgpriylcp sspslscgsl hlkkscllls essltphhss
      361 lvspvlrksv sfseelflaa sgmgsgsagk eggpfkallr qqtqsaleqr efpfftltaf
      421 ppgflvhvgg vvsarsvkll drihnpafvg imgntrsykl ldwnsfnsde petrdawwae
      481 irqeikshak algchavvgy sestsiceev cilsasgtaa vlnprflqdg tvegcleqrl
      541 eenlptrcgf chipydelnm pfpahltycy ncrkqkvpdv lfttidlptd atvigkgcli
      601 qarlcrlkkk aqaeanatai snllpfmeye vhtqlmnklk lkgmnalfgl riqitvgenm
      661 lmglasatgv ylaalptpgg iqiagktpnd gsyeqhishm qkkindtiak nkelyeinpp
      721 eiseeiigsp ipeprqrsrl lrsqsessde vteldlshgk kdafvleidd tdamedvhsl
      781 ltdvpppsgf yscnteimpg innwtseiqm ftsvrvirls slnltnqaln knfndlcenl
      841 lkslyfklrs mipcclchvn ftvslpedel iqvtvtavai tfdknqalqt tktpvekslq
      901 rastdneell qfplelcsds lpshpfppak ehlesassns gipaaqrats vdyssfadrc
      961 sswieliklk aqtirrgsik ttmtvekasp vgdgnfrnrs appcanstvg vvkmtplsfi
     1021 pgakitkylg iinmffiret tslreeggvs gflhafiaev famvrahvaa lggnavvsyi
     1081 mkqcvfmenp nknqaqclin vsgdavvfvr esdlevvssq qpttncqssc tegevtt
//
LOCUS       XP_054230079             176 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-expressed protein 26 isoform X6 [Homo sapiens].
ACCESSION   XP_054230079
VERSION     XP_054230079.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374104.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..176
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..176
                     /product="testis-expressed protein 26 isoform X6"
                     /calculated_mol_wt=20239
     CDS             1..176
                     /gene="TEX26"
                     /gene_synonym="C13orf26"
                     /coded_by="XM_054374104.1:61..591"
                     /db_xref="GeneID:122046"
                     /db_xref="HGNC:HGNC:28622"
ORIGIN      
        1 meqpgprapd pslchhnlqp tddpnwdsya ttmrtaftpk tgavpalirq ngirrlgyty
       61 slsdpilnqt qysdeytwks hskedlikte tsrgikshks hlnediflwt lphcqqtgtl
      121 knclpwkipa smkevnkals nqfisltkrd fvdrskdrqi idrfirthcd tnkkkk
//
LOCUS       XP_054235776             951 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 90 isoform X49 [Homo sapiens].
ACCESSION   XP_054235776
VERSION     XP_054235776.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379801.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..951
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..951
                     /product="WD repeat-containing protein 90 isoform X49"
                     /calculated_mol_wt=101242
     CDS             1..951
                     /gene="WDR90"
                     /gene_synonym="C16orf15; C16orf16; C16orf17; C16orf18;
                     C16orf19; POC16"
                     /coded_by="XM_054379801.1:89..2944"
                     /db_xref="GeneID:197335"
                     /db_xref="HGNC:HGNC:26960"
                     /db_xref="MIM:618290"
ORIGIN      
        1 mscceltsal wtwpaaawtq pwlcalalql watcwcpprp teswcwmlcr aassgsedar
       61 flliaagrti kvwdyatqas pgpqvyighs epvqavafsp dqqqvlsagd avflwdvlap
      121 tesdqsfpga ppacktgpga gpledaasra selprqqvpk pcqaspprlg vcarppeggd
      181 gtlspsdeeg pceescdpeg lgqasgppvl teeeagragd gawaaavgsw glalpprspg
      241 qpreqwragq grwcrcrglr tvgardtrns gaprttylas ckaftparvs csphsakgtc
      301 pppasggwlr lkavvgysgn granmvwrpd tgffaytcgr lvvvedlhsg aqqhwsghsa
      361 eistlalshs aqvlasasgr ssttahcqir vwdvsgglcq hlifphsttv lalafspddr
      421 llvtlgdhdg rtlalwgtat ydlvsstrlp epvhgvafnp wdageltcvg qgtvtfwllq
      481 qrgadislqv rrepvpeavg ageltslcyg appllycgts sgqvcvwdtr agrcflswea
      541 ddggiglllf sgsrlvsgss tgrlrlwavg avselrckgs garsssvfme helvldgavv
      601 sasfddsvdm gvvgttagtl wfvswaegts trlisghrsk vnevvfspge shcatcsedg
      661 svrvwalasm elviqfqvln qsclclawsp pccgrpeqqr laagygdgsl rifsvsrtam
      721 elkmhphpva lttvafstdg qtvlsgdkdg lvavshpctg ttfrvlsdhq gapisticvt
      781 ckecedlgve gtdlwlaasg dqrvsvwasd wlrnhcelvd wlsfpmpatt etqghlppsl
      841 aafcpwdgal lmyvgpgvyk eviiynlcqk qvvekiplpf famslslspg thllavgfae
      901 cmlrlvdcam gtaqdfaghd navhlcrftp sarllftaar neilvwevpg l
//
LOCUS       XP_054236249             813 aa            linear   PRI 20-MAR-2023
DEFINITION  integrin alpha-X isoform X2 [Homo sapiens].
ACCESSION   XP_054236249
VERSION     XP_054236249.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380274.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..813
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..813
                     /product="integrin alpha-X isoform X2"
                     /calculated_mol_wt=89326
     CDS             1..813
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /coded_by="XM_054380274.1:503..2944"
                     /db_xref="GeneID:3687"
                     /db_xref="HGNC:HGNC:6152"
                     /db_xref="MIM:151510"
ORIGIN      
        1 maqegfsavf tpdgpvlgav gsftwsggaf lyppnmsptf inmsqenvdm rdsylgyste
       61 lalwkgvqsl vlgapryqht gkaviftqvs rqwrmkaevt gtqigsyfga slcsvdvdsd
      121 gstdlvliga phyyeqtrgg qvsvcplprg wrrwwcdavl ygeqghrwgr fgaaltvlgd
      181 vngdkltdvv igapgeeenr gavylfhgvl gpsispshsq riagsqlssr lqyfgqalsg
      241 gqdltqdglv dlavgargqv lllrtrpvlw vgvsmqfipa eiprsafecr eqvvseqtlv
      301 qsniclyidk rsknllgsrd lqssvtldla ldpgrlspra tfqetknrsl srvrvlglka
      361 hcenfnlllp scvedsvtpi tlrlnftlvg kpllafrnlr pmlaadaqry ftaslpfekn
      421 cgadhicqdn lgisfsfpgl ksllvgsnle lnaevmvwnd gedsygttit fshpaglsyr
      481 yvaegqkqgq lrslhltcds apvgsqgtws tscrinhlif rggaqitfla tfdvspkavl
      541 gdrllltanv ssenntprts kttfqlelpv kyavytvvss heqftkylnf seseekeshv
      601 amhryqvnnl gqrdlpvsin fwvpvelnqe avwmdvevsh pqnpslrcss ekiappasdf
      661 lahiqknpvl dcsiagclrf rcdvpsfsvq eeldftlkgn lsfgwvrqil qkkvsvvsva
      721 eitfdtsvys qlpgqeafmr aqtttvleky kvhnptpliv gssiggllll alitavlykv
      781 gffkrqykem meeangqiap engtqtpspp sek
//
LOCUS       XP_054236370            3704 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger homeobox protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054236370
VERSION     XP_054236370.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380395.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3704
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3704
                     /product="zinc finger homeobox protein 3 isoform X1"
                     /calculated_mol_wt=404319
     CDS             1..3704
                     /gene="ZFHX3"
                     /gene_synonym="ATBF1; ATBT; C16orf47; ZFH-3; ZNF927"
                     /coded_by="XM_054380395.1:501..11615"
                     /db_xref="GeneID:463"
                     /db_xref="HGNC:HGNC:777"
                     /db_xref="MIM:104155"
ORIGIN      
        1 megcdspvvs gkdngcgipq hqqwtelnst hlpdkpssme qstgeshgpl dslrapfner
       61 laestasagp psepaskevt cnecsasfas lqtymehhcp sarpppplre esasdtgeeg
      121 deesdvenla geivyqpdgs ayiveslsql tqgggacgsg sgsgplpslf lnslpgaggk
      181 qgdpscaapv ypqiintfhi assfgkwfeg pdqafpntsa laglspvlhs frvfdvrhks
      241 nkdylnsdgs aksscvskdv pnnvdlskfd gfvlygkrkp ilmcflckls fgyvrsfvth
      301 avhdhrmtls ederkilsnk nisaiiqgig kdkeplvsfl epknknfqhp lvstanligp
      361 ghsfygkfsg irmegeealp agsaagpeqp qaglltpstl lnlggltssv lktpitsvpl
      421 gplassptks segkdsgaae gekqevgdgd cfsekvepae eeaeeeeeee eaeeeeeeee
      481 eeeeeeedeg ckglfpseld eeledrphee pgaaagsssk kdlalsnqsi snsplmpnvl
      541 qtlsrgtast ssnsassfvv fdganrrnrl sfnsegvran vaeggrrldf adesankdna
      601 tapepneste gddggfvphh qhagslcelg vgecpsgsgv ecpkcdtvlg ssrslgghmt
      661 mmhsrnsckt lkcpkcnwhy kyqqtleahm kekhpepggs cvycksgqph prlargesyt
      721 cgykpfrcev cnystttkgn lsihmqsdkh lnnmqnlqng ggeqvfshta gaaaaaaaaa
      781 aaaanisssc gapsptkpkt kptwrcevcd yetnvarnlr ihmtsekhmh nmmllqqnmt
      841 qiqhnrhlgl gslpspaeae lyqyylaqnm nlpnlkmdsa asdaqfmmsg fqldpagpma
      901 amtpalvgge ipldmrlggg qlvseelmnl gesfiqtndp slklfqcavc nkfttdnldm
      961 lglhmnvers lsedewkavm gdsyqcklcr yntqlkanfq lhcktdkhvq kyqlvahike
     1021 ggkanewrlk cvaignpvhl kcnacdyytn sleklrlhtv nsrheaslkl ykhlqqhesg
     1081 vegescyyhc vlcnystkak lnliqhvrsm khqrseslrk lqrlqkglpe ededlgqift
     1141 irrcpstdpe eaiedvegps etaadpeela kdqeggasss qaekeltdsp atskrisfpg
     1201 ssesplsskr pktaeeikpe qmyqcpycky snadvnrlrv hamtqhsvqp mlrcplcqdm
     1261 lnnkihlqlh lthlhsvapd cveklimtvt tpemvmpssm flpaavpdrd gnsnleeagk
     1321 qpetsedlgk nilpsasteq sgdlkpspad pgsvredsgf icwkkgcnqv fktsaalqth
     1381 fnevhakrpq lpvsdrhvyk yrcnqcslaf ktieklqlhs qyhviraatm cclcqrsfrt
     1441 fqalkkhlet shlelseadi qqlyggllan gdllamgdpt laedhtiive edkeeesdle
     1501 dkqsptgsds gsvqedsgse pkralpfrkg pnftmekfld psrpykctvc kesftqknil
     1561 lvhynsvshl hklkralqes atgqpeptss pdnkpfkcnt cnvaysqsst leihmrsvlh
     1621 qtkaraakle aasgssngtg nsssislsss tpspvstsgs ntfttsnpss agiapssnll
     1681 sqvptesvgm pplgnpigan iaspsepkea nrkkladmia srqqqqqqqq qqqqqqqqqq
     1741 qaqtlaqaqa qvqahlqqel qqqaaliqsq lfnptllphf pmttetllql qqqqhllfpf
     1801 yipsaefqln pevslpvtsg altltgtgpg lledlkaqvq vpqqshqqil pqqqqnqlsi
     1861 aqshsallqp sqhpekknkl vikekekesq rerdsaegge gntgpketlp dalkakekke
     1921 lapgggseps mlppriasda rgnatkalle nfgfelviqy nenkqkvqkk ngktdqgenl
     1981 eklecdscgk lfsnililks hqehvhqnyf pfkqlerfak qyrdhydkly plrpqtpepp
     2041 pppppppppp lpaappqpas tpaipasapp itsptiapaq psvpltqlsm pmelpifspl
     2101 mmqtmplqtl paqlppqlgp veplpadlaq lyqhqlnptl lqqqnkrprt ritddqlrvl
     2161 rqyfdinnsp seeqikemad ksglpqkvik hwfrntlfke rqrnkdspyn fsnppitsle
     2221 elkidsrpps peppkqeywg skrssrtrft dyqlrvlqdf fdanaypkdd efeqlsnlln
     2281 lptrvivvwf qnarqkarkn yenqgegkdg erreltndry irtsnlnyqc kkcslvfqri
     2341 fdlikhqkkl cykdedeegq ddsqnedsmd ameiltptss scstpmpsqa ysapapsann
     2401 tassaflqlt aeaeelatfn skteagdekp klaeapsaqp nqtqekqgqp kpelqqqeqp
     2461 eqktntpqqk lpqlvslpsl pqpppqappp qcplpqssps psqlshlplk plhtstpqql
     2521 anlppqlipy qcdqcklafp sfehwqehqq lhflsaqnqf ihpqfldrsl dmpfmlfdps
     2581 npllasqlls gaipqipass atspstptst mntlkrklee kasaspgend sgtggeepqr
     2641 dkrlrttitp eqleilyqky lldsnptrkm ldhiahevgl kkrvvqvwfq ntrarerkgq
     2701 fravgpaqah rrcpfcralf kaktaleahi rsrhwheakr agynltlsam lldcdgglqm
     2761 kgdifdgtsf shlppsssdg qgvplspvsk tmelsprtll spssikvegi edfespsmss
     2821 vnlnfdqtkl dnddcssvnt aitdtttgde gnadndsatg iatetksssa pnegltkaam
     2881 mamseyedrl ssglvspaps fyskeydneg tvdysetssl adpcspspga sgsagksgds
     2941 gdrpgqkrfr tqmtnlqlkv lkscfndyrt ptmlecevlg ndiglpkrvv qvwfqnarak
     3001 ekksklsmak hfginqtsye gpktectlcg ikysarlsvr dhifsqqhis kvkdtigsql
     3061 dkekeyfdpa tvrqlmaqqe ldrikkanev lglaaqqqgm fdntplqaln lptaypalqg
     3121 ippvllpgln spslpgftps ntaltspkpn lmglpsttvp spglptsglp nkpssaslss
     3181 ptpaqatmam gpqqppqqqq qqqqpqvqqp ppppaaqppp tpqlplqqqq qrkdkdsekv
     3241 kekekahkgk geplpvpkke kgeaptataa tisaplptme yavdpaqlqa lqaaltsdpt
     3301 alltsqflpy fvpgfspyya pqipgalqsg ylqpmygmeg lfpyspalsq almglspgsl
     3361 lqqyqqyqqs lqeaiqqqqq rqlqqqqqqk vqqqqpkasq tpvppgapsp dkdpakespk
     3421 peeqkntpre vspllpklpe epeaesksad slydpfivpk vqyklvcrkc qagfsdeeaa
     3481 rshlkslcff gqsvvnlqem vlhvptgggg ggsggggggg ggggggggsy hclacesalc
     3541 geealsqhle salhkhrtit raarnakehp sllphsacfp dpstastsqs aahsndsppp
     3601 psaaapssas phasrkswpq vvsrasaakp psfpplssss tvtssscsts gvqpsmptdd
     3661 yseesdtdls qksdgpaspv egpkdpscpk dsgltsvgtd tfrl
//
LOCUS       XP_054169459             647 aa            linear   PRI 20-MAR-2023
DEFINITION  translin-associated factor X-interacting protein 1 isoform X12
            [Homo sapiens].
ACCESSION   XP_054169459
VERSION     XP_054169459.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313484.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..647
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..647
                     /product="translin-associated factor X-interacting protein
                     1 isoform X12"
                     /calculated_mol_wt=74497
     CDS             1..647
                     /gene="TSNAXIP1"
                     /gene_synonym="TXI1"
                     /coded_by="XM_054313484.1:262..2205"
                     /db_xref="GeneID:55815"
                     /db_xref="HGNC:HGNC:18586"
                     /db_xref="MIM:607720"
ORIGIN      
        1 macqqsryhs fssasrlqpr psgvtidesf ltedkstqnr kllqkrrtlt gqfsmgghls
       61 pwptytsgqt ilqnrkpcsd dyrkrvgscq qhpfrtakpq yleelenylr kelllldlgt
      121 dstqelrlqv tklrknlaee ylhylserda ckiliadlne lryqredmsl aqspgiwged
      181 pvkltlalkm trqdltrtqm elnnmkanfg dvvprrdfem qektnkdlqe qgqcpcpqld
      241 tlrasyeevr keheilmqlh mstlkerdqf fselqeiqrt stprpdwtkc kgegsrqgpr
      301 sclhvgpdss slsphadvva ggperwqmla egknsdqlvd vlleeigsgl lrekdffpgl
      361 gygeaipafl rfdglvenkk pskkdvvnll kdawkerlae eqketfpdff fnflehrfgp
      421 sdamawayti fenikifhsn evmsqfyavl mgkrsenvyv tqketvaqll kemtnadsqn
      481 eglltmeqfn tvlkstfplk teeqiqelme aggwhpsssn adllnyrslf medeegqsep
      541 fvqklweqym dekdeylqql kqelgielhe evtlpklrgg lmtidpsldk qtvntymsqa
      601 fqlpesempe egdekeeavv eilqtalerl qvidirrvgp repepas
//
LOCUS       XP_054172283            1357 aa            linear   PRI 20-MAR-2023
DEFINITION  misshapen-like kinase 1 isoform X4 [Homo sapiens].
ACCESSION   XP_054172283
VERSION     XP_054172283.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316308.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1357
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1357
                     /product="misshapen-like kinase 1 isoform X4"
                     /calculated_mol_wt=152921
     CDS             1..1357
                     /gene="MINK1"
                     /gene_synonym="B55; MAP4K6; MEKKK 6; MINK; YSK2; ZC3"
                     /coded_by="XM_054316308.1:245..4318"
                     /db_xref="GeneID:50488"
                     /db_xref="HGNC:HGNC:17565"
                     /db_xref="MIM:609426"
ORIGIN      
        1 mgdpaparsl ddidlsalrd pagifelvev vgngtygqvy kgrhvktgql aaikvmdvte
       61 deeeeikqei nmlkkyshhr niatyygafi kksppgnddq lwlvmefcga gsvtdlvknt
      121 kgnalkedci ayicreilrg lahlhahkvi hrdikgqnvl ltenaevklv dfgvsaqldr
      181 tvgrrntfig tpywmapevi acdenpdaty dyrsdiwslg itaiemaega pplcdmhpmr
      241 alfliprnpp prlkskkwsk kfidfidtcl iktylsrppt eqllkfpfir dqpterqvri
      301 qlkdhidrsr kkreeteyey sgseeeddsh geegepssim nvpgestlrr eflrlqqenk
      361 snsealkqqq qlqqqqqrdp eahikhllhq rqrrieeqke errrveeqqr rereqrklqe
      421 keqqrrledm qalrreeerr qaereqeyir hrleeeqrql eilqqqllqe qallleykrk
      481 qleeqrqser lqrqlqqeha ylkslqqqqq qqqlqkqqqq qllpgdrkpl yhygrgmnpa
      541 dkpawareve ertrmnkqqn splakskpgs tgpeppipqa spgppgplsq tppmqrpvep
      601 qegphkslva hrvplkpyaa pvprsqslqd qptrnlaafp ashdpdpaip aptatpsarg
      661 avirqnsdpt segpgpspnp pawvrpdnea ppkvpqrtss iatalntsga ggsrpaqavr
      721 arprsnsawq iylqrraerg tpkppgppaq ppgppnassn pdlrrsdpgw ersdsvlpas
      781 hghlpqagsl ernrvgassk ldsspvlspg nkakpddhrs rpgrpadfvl lkertldeap
      841 rppkkamdys ssseevesse ddeeegeggp aegsrdtpgg rdgdtdsvst mvvhdveeit
      901 gtqppygggt mvvqrtpeee rnllhadsng ytnlpdvvqp shsptenskg qsppskdgsg
      961 dyqsrglvka pgkssftmfv dlgiyqpggs gdsipitalv ggegtrldql qydvrkgsvv
     1021 nvnptntrah setpeirkyk krfnseilca alwgvnllvg tenglmlldr sgqgkvygli
     1081 grrrfqqmdv leglnlliti sgkrnklrvy ylswlrnkil hndpevekkq gwttvgdmeg
     1141 cghyrvvkye rikflvialk ssvevyawap kpyhkfmafk sfadlphrpl lvdltveegq
     1201 rlkviygssa gfhavdvdsg nsydiyipvh iqsqitphai iflpntdgme mllcyedegv
     1261 yvntygriik dvvlqwgemp tsvayicsnq imgwgekaie irsvetghld gvfmhkraqr
     1321 lkflcerndk vffasvrsgg ssqvyfmtln rncimnw
//
LOCUS       XP_054172322            2098 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-XV isoform X3 [Homo sapiens].
ACCESSION   XP_054172322
VERSION     XP_054172322.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316347.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2098
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2098
                     /product="unconventional myosin-XV isoform X3"
                     /calculated_mol_wt=235985
     CDS             1..2098
                     /gene="MYO15A"
                     /gene_synonym="DFNB3; MYO15"
                     /coded_by="XM_054316347.1:383..6679"
                     /db_xref="GeneID:51168"
                     /db_xref="HGNC:HGNC:7594"
                     /db_xref="MIM:602666"
ORIGIN      
        1 makeedeekk akkgkkgkka pepekpkrsl kgtsrlfmgf rdrtpkiskk gqfrsasaff
       61 wglhtgpqkt krkrkartvl kstsklmtqm rmgkkkramk gkkpsfmvir fpgrrgygrl
      121 rprarslska stainwltkk fllkkaeesg seqatvdawl qrsssrmgsr klpfpsgaei
      181 lrpggrlrrf prsrsiyasg eplgflpfed eapfhhsgsr kslyglegfq dlgeyydyhr
      241 dgddyydrqs lhryeeqepy laglgpyspa wppygdhyyg yppedpydyy hpdyyggpfd
      301 pgytygygyd dyeppyapps gysspysyhd gyegeahpyg yyldpyapyd apyppydlpy
      361 htpydvpyfd pygvhytvpy aegvygggde aiyppevpyf ypeesasafv ypwvpppips
      421 phnpyahamd diaeleeped agverqgtsf rlpsaaffeq qgmdkparsk lslirkfrlf
      481 prpqvklfgk eklevplpps ldiplplgda deeedeeelp pvsavpyghp fwgfltprqr
      541 nlqralsafg ahrglgfgpe fgrpvprpat slarflkktl sekkpiarlr gsqktraggp
      601 avreaaykrf gyklagmdpe kpgtpivlrr aqprarssnd arrppapqpa prtlshwsal
      661 lsppvpprpp ssgpppappl spalsglprp aspygslrrh pppwaapahv ppapqaswwa
      721 fveppavspe vppdllafpg prpsfrgsrr rgaafgfpga sprasrrraw splaspqpsl
      781 rsspglgycs plappspqls lrtgpfqppf lpparrprsl pespaprraa grlgppgspl
      841 pgsprppspp lglchsprrs slnlpsrlph twrrlseppt ravkpqvrlp fhrppragaw
      901 raplehresp repedsetpw tvpplapswd vdmpptqrpp spwpggagsr rgfsrpppvp
      961 enpflqllgp vpsptlqped paadmtrvfl grhhepgpgq ltksagptpe kpeeeatlgd
     1021 pqlpaetkpp tpappkdvtp pkditppkdv lpeqktlrps lsyplaacdq tratwppwhr
     1081 wgtlpqaaap lapirapepl pkggerrqaa pgrfavvmpr vqklssfqrv gpatlkpqvq
     1141 piqdpkprac slrwsclwlr adaygpwprv hthpqschlg pgaaclslrg sweevgppsw
     1201 rnkmhsirnl psmrfreqhg edgvedmtql edlqettvls nlkirfernl iytyigsilv
     1261 svnpyqmfgi ygpeqvqqyn gralgenpph lfavanlafa kmldakqnqc iiisgesgsg
     1321 kteatklilr ylaamnqkre vmqqileatp llesfgnakt vrndnssrfg kfveiflegg
     1381 visgaitsqy lleksrivfq aknernyhif yellaglpaq lrqafslqea etyyylnqgg
     1441 nceiagksda ddfrrllaam evlgfssedq dsifrilasi lhlgnvyfek yetdaqevas
     1501 vvsareiqav aellqispeg lqkaitfkvt etmrekiftp ltvesavdar daiakvlyal
     1561 lfswlitrvn alvsprqdtl siaildiygf edlsfnsfeq lcinyanenl qylfnkivfq
     1621 eeqeeyireq idwqeitfad nqpcinlisl kpygilrild dqccfpqatd htflqkchyh
     1681 hganplyskp kmplpeftik hyagkvtyqv hkfldknhdq vrqdvldlfv rsrtrvvahl
     1741 fsshapqaap qrlgksssvt rlykahtvaa kfqqslldlv ekmercnplf mrclkpnhkk
     1801 epglfepdvv maqlrysgvl etvrirkegf pvrlpfqgfi drycclvalk hdlpangdmc
     1861 vsvlsrlckv mpnmyrvgvs klflkehlyq llesmrehvl nlaaltlqrc lrgffikrrf
     1921 rslrhkiill qsrargylar qryqqmrrsl vkfrslvhay vsrrrylkel skrevvavgh
     1981 levpaelagl lqavaglgla qvpqvapvrt prlqaeprvt lpldinnypm akfvqchfke
     2041 pafgmltvpl rtpltqlpae hhaeavsifk lpsswqkkkk knsaleplkd tkkrprsp
//
LOCUS       XP_054175637             766 aa            linear   PRI 20-MAR-2023
DEFINITION  heterogeneous nuclear ribonucleoprotein U-like protein 1 isoform X4
            [Homo sapiens].
ACCESSION   XP_054175637
VERSION     XP_054175637.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319662.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..766
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..766
                     /product="heterogeneous nuclear ribonucleoprotein U-like
                     protein 1 isoform X4"
                     /calculated_mol_wt=85809
     CDS             1..766
                     /gene="HNRNPUL1"
                     /gene_synonym="E1B-AP5; E1BAP5; HNRPUL1"
                     /coded_by="XM_054319662.1:32..2332"
                     /db_xref="GeneID:11100"
                     /db_xref="HGNC:HGNC:17011"
                     /db_xref="MIM:605800"
ORIGIN      
        1 mdnitrqnqf ydtqvikqen esgyerrple meqqqayrpe mktemkqgap tsflppeasq
       61 lkpdrqqfqs rkrpyeenrg rgyfehredr rgrspqppae ededdfddtl vaidtyncdl
      121 hfkvardrss gypltiegfa ylwsgarasy gvrrgrvcfe mkineeisvk hlpstepdph
      181 vvrigwslds cstqlgeepf sygyggtgkk stnsrfenyg dkfaendvig cfadfecgnd
      241 velsftkngk wmgiafriqk ealggqalyp hvlvkncave fnfgqraepy csvlpgftfi
      301 qhlplserir gtvgpkskae ceilmmvglp aagkttwaik haasnpskky nilgtnaimd
      361 kmrvmglrrq rnyagrwdvl iqqatqclnr liqiaarkkr nyildqtnvy gsaqrrkmrp
      421 fegfqrkaiv icptdedlkd rtikrtdeeg kdvpdhavle mkanftlpdv gdfldevlfi
      481 elqreeadkl vrqyneegrk agpppekrfd nrggggfrgr gggggfqrye nrgppggnrg
      541 gfqnrgggsg gggnyrggfn rsggggysqn rwgnnnrdnn nsnnrgsynr apqqqpppqq
      601 ppppqpppqq pppppsyspa rnppgastyn knsnipgssa ntstptvssy sppqsfgffp
      661 stfqpsysqp pynqggysqg ytappppppp ppaynygsyg gynpapytpp ppptaqtypq
      721 psynqyqqya qqwnqyyqnq gqwppyygny dygsysgntq ggtstq
//
LOCUS       XP_054177169             553 aa            linear   PRI 20-MAR-2023
DEFINITION  lipolysis-stimulated lipoprotein receptor isoform X2 [Homo
            sapiens].
ACCESSION   XP_054177169
VERSION     XP_054177169.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321194.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..553
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..553
                     /product="lipolysis-stimulated lipoprotein receptor
                     isoform X2"
                     /calculated_mol_wt=60696
     CDS             1..553
                     /gene="LSR"
                     /gene_synonym="ILDR3; LISCH7"
                     /coded_by="XM_054321194.1:22..1683"
                     /db_xref="GeneID:51599"
                     /db_xref="HGNC:HGNC:29572"
                     /db_xref="MIM:616582"
ORIGIN      
        1 mallagglsr glgshpaaag rdavvfvwll lstwctapar aiqvtvsnpy hvvilfqpvt
       61 lpctyqmtst ptqpiviwky ksfcrdriad afspasvdnq lnaqlaagnp gynpyvecqd
      121 svrtvrvvat kqgnavtlgd yyqgrritit gnadltfdqt awgdsgvyyc svvsaqdlqg
      181 nneayaeliv lgrtsgvael lpgfqagpie vyaagkaats gvpsiyapst yahlspaktp
      241 pppamipmgp ayngypggyp gdvdrsssag gqgsyvpllr dtdssvasev rsgyriqasq
      301 qddsmrvlyy mekelanfdp srpgppsgrv eramsevtsl heddwrsrps rgpaltpird
      361 eewgghsprs prgwdqepar eqagggwrar rprarsvdal ddltppstae sgsrsptsng
      421 grrsraympp rsrsrddlyd qddsrdfprs rdphyddfrs rerppadprs hhhrtrdprd
      481 ngsrsgdlpy dgrlleeavr kkgseerrrp hkeeeeeayy ppapppyset dsqasrerrl
      541 kknlalsres lvv
//
LOCUS       XP_054197453             428 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF149 isoform X1 [Homo sapiens].
ACCESSION   XP_054197453
VERSION     XP_054197453.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341478.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..428
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..428
                     /product="E3 ubiquitin-protein ligase RNF149 isoform X1"
                     /calculated_mol_wt=46454
     CDS             1..428
                     /gene="RNF149"
                     /gene_synonym="DNAPTP2"
                     /coded_by="XM_054341478.1:114..1400"
                     /db_xref="GeneID:284996"
                     /db_xref="HGNC:HGNC:23137"
ORIGIN      
        1 mawrrreagv gargvlalal lalalcvpga rgralewfsa vvnieyvdpq tnltvwsvse
       61 sgrfgdsspk egahglvgvp wapggdlegc apdtrffvpe pggrgaapwv alvarggctf
      121 kdkvlvaarr nasavvlyne erygnitlpm shagtgnivv imisypkgre ilelvqkgip
      181 vtmtigvgtr hvqefisgqs vvfvaiafit mmiislawli fyyiqrflyt gsqigsqshr
      241 ketkkvigql llhtvkhgek gidvdaenca vcienfkvkd iirilpckhi fhricidpwl
      301 ldhrtcpmck ldvikalgyw gepgdvqemp apesppgrdp aanlslalpd ddgsddsspp
      361 saspaesepq cdpsfkgdag entallgerc anyktiecgq ewwltpvisv lwefkvggll
      421 efelsksk
//
LOCUS       XP_054198102             252 aa            linear   PRI 20-MAR-2023
DEFINITION  astacin-like metalloendopeptidase isoform X3 [Homo sapiens].
ACCESSION   XP_054198102
VERSION     XP_054198102.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342127.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..252
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..252
                     /product="astacin-like metalloendopeptidase isoform X3"
                     /calculated_mol_wt=27362
     CDS             1..252
                     /gene="ASTL"
                     /gene_synonym="OOMD11; SAS1B"
                     /coded_by="XM_054342127.1:795..1553"
                     /db_xref="GeneID:431705"
                     /db_xref="HGNC:HGNC:31704"
                     /db_xref="MIM:608860"
ORIGIN      
        1 mscclvspvg apgicvcpcl sgpgvilgap lasscagacg tsfpdgltpe gtqasgdkdi
       61 painqglile etpessflie gdiirpspfr llsatsnkwp mggsgvvevp fllsskydep
      121 srqvileala eferstcirf vtyqdqrdfi siipmygcfs svgrsggmqv vslaptclqk
      181 grgivlhelm hvlgfwheht radrdryirv nwneilpgfe infiksqssn mltpydyssv
      241 mhygrvpcpq hw
//
LOCUS       XP_054199024             330 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase KCMF1 isoform X1 [Homo sapiens].
ACCESSION   XP_054199024
VERSION     XP_054199024.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343049.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..330
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..330
                     /product="E3 ubiquitin-protein ligase KCMF1 isoform X1"
                     /calculated_mol_wt=36039
     CDS             1..330
                     /gene="KCMF1"
                     /gene_synonym="DEBT91; FIGC; PCMF; ZZZ1"
                     /coded_by="XM_054343049.1:563..1555"
                     /db_xref="GeneID:56888"
                     /db_xref="HGNC:HGNC:20589"
                     /db_xref="MIM:614719"
ORIGIN      
        1 mqciltrvdf dlyyggeafs veqpqsftcp ycgkmgytet slqehvtseh aetstevicp
       61 icaalpggdp nhvtddfaah ltlehraprd ldessgvrhv rrmfhpgrgl ggprarrsnm
      121 hftssstggl sssqssysps nreamdpiae llsqlsgvrr saggqlnssg psasqlqqlq
      181 mqlqlerqha qaarqqleta rnatrrtnts svtttitqst attniantes sqqtlqnsqf
      241 lltrlndpkm seterqsmes eradrslfvq elllstlvre essssdeddr gemadfgamg
      301 cvdimpldva lenlnlkesn kgnepppppl
//
LOCUS       XP_054199119            4855 aa            linear   PRI 20-MAR-2023
DEFINITION  baculoviral IAP repeat-containing protein 6 isoform X16 [Homo
            sapiens].
ACCESSION   XP_054199119
VERSION     XP_054199119.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343144.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4855
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..4855
                     /product="baculoviral IAP repeat-containing protein 6
                     isoform X16"
                     /calculated_mol_wt=529996
     CDS             1..4855
                     /gene="BIRC6"
                     /gene_synonym="APOLLON; BRUCE"
                     /coded_by="XM_054343144.1:140..14707"
                     /db_xref="GeneID:57448"
                     /db_xref="HGNC:HGNC:13516"
                     /db_xref="MIM:605638"
ORIGIN      
        1 mvtgggaapp gtvteplpsv ivlsagrkma aaaaaasgpg cssaagagaa gvsewlvlrd
       61 gcmhcdadgl hslsyhpaln ailavtsrgt ikvidgtsga tlqasalsak pggqvkcqyi
      121 savdkvifvd dyavgcrkdl ngillldtal qtpvskqddv vqlelpvtea qqllsaclek
      181 vdisstegyd lfitqlkdgl kntshetaan hkvakwatvt fhlphhvlks iasaivnelk
      241 kinqnvaalp vassvmdrls yllpsarpel gvgpgrsvdr slmyseanrr etftswphvg
      301 yrwaqpdpma qagfyhqpas sgddramcft csvclvcwep tdepwseher hspncpfvkg
      361 ehtqnvplsv tlatspaqfp ctdgtdrisc fgsgscphfl aaatkrgkic iwdvsklmkv
      421 hlkfeinayd paivqqlils gdpssgvdsr rptlawleds sscsdipkle gdsddlleds
      481 dseehsrsds vtghtsqkea mevsldital silqqpeklq weivanvled tvkdleelga
      541 npcltnskse ktkekhqeqh nipfpcllag glltykspat spissnshrs ldglsrtqge
      601 siseqgstdn esctnselns plvrrtlpvl llysikesde kagkifsqmn nimskslhdd
      661 gftvpqiiem eldsqeqlll qdppvtyiqq fadaaanlts pdsekwnsvf pkpgtlvqcl
      721 rlpkfaeeen lcidsitpca dgihllvglr tcpveslsai nqvealnnln klnsalcnrr
      781 kgelesnlav vnganisviq hespadvqtp liiqpeqrnv sggylvlykm nyatrivtle
      841 eepikiqhik dpqdtitsli llppdildnr eddceepied mqltskngfe rektsdistl
      901 ghlvittqgg yvkildlsnf eilakveppk kegteeqdtf vsviycsgtd rlcactkgge
      961 lhflqiggtc ddideadilv dgslskgiep ssegskplsn psspgisgvd llvdqpftle
     1021 iltslveltr fetltprfsa tvppcwvevq qeqqqrrhpq hlhqqhhgda aqhtrtwklq
     1081 tdsnswdehv felvlpkacm vghvdfkfvl nsnitnipqi qvtllknkap glgkvnalni
     1141 eveqngkpsl vdlneemqhm dveesqclrl cpfledhked ilcgpvwlas gldlsghagm
     1201 ltltspklvk gmaggkyrsf lihvkavner gteeicnggm rpvvrlpslk hqsnkgysla
     1261 sllakvaagk ekssnvknen tsgtrksenl rgcdllqevs vtirrfkkts iskervqrca
     1321 mlqfsefhek llntlcrktd dgqitehaqs lvldtlcwla gvhsngpgss kegnenllsk
     1381 trkflsdivr vcffeagrsi ahkcarflal cisngkcdpc qpafgpvllk alldnmsflp
     1441 aattggsvyw yfvllnyvkd edlagcstac aslltavsrq lqdrltpmea llqtryglys
     1501 spfdpvlfdl emsgsscknv ynssigvqsd eidlsdvlsg ngkvssctaa egsftsltgl
     1561 leveplhftc vstsdgtrie rddastftvs sfgvtpavgg lssgtvgeas talssaaqva
     1621 lqslshamas aeqqlqvlqe kqqqllklqq qkakleaklh qttaaaaaaa savgpvhnsv
     1681 psnpvaapgf fihpsdvipp tpkttplfmt ppltppneav svvinaelaq lfpgsvidpp
     1741 avnlaahnkn snksrmnplg sglalaisha shflqppphq siiiermhsg arrfvtldfg
     1801 rpilltdvli ptcgdlasls idiwtlgeev dgrrlvvatd isthslilhd lipppvcrfm
     1861 kitvigrygs tnarakiplg fyyghtyilp weselklmhd plkgegesan qpeidqhlam
     1921 mvalqediqc rynlachrle tllqsidlpp lnsannaqyf lrkpdkavee dsrvfsayqd
     1981 ciqlqlqlnl ahnavqrlkv algasrkmls etsnpedliq tssteqlrti irylldtlls
     2041 llhasnvlqs tfhaqaceel fkhlcisgtp kirlhtglll vqlcggerww gqflsnvlqe
     2101 lynseqllif pqdrvfmlls cigqrslsns gvlesllnll dnllsplqpq lpmhrrtegv
     2161 ldipmiswvv mlvsrlldyv atvedeaaaa kkplngnqws finnnlhtqs lnrsskgsss
     2221 ldrlysrkir kqlvhhkqql nllkakqkal veqmekekiq snkgssykll veqaklkqat
     2281 skhfkdlirl rrtaewsrsn ldtevttake speieplpft lahercisvv qklvlfllsm
     2341 dftchadlll fvckvlaria natrptihlc eivnepqler lllllvgtdf nrgdiswgga
     2401 waqysltcml qdilagella pvaaeameeg tvgddvgata gdsddslqqs svqlletide
     2461 plthditgap plsslekdke idlellqdlm evdidpldid lekdplaakv fkpisstwyd
     2521 ywgadygtyn ynpyigglgi pvakppante kngsqtvsvs vsqaldarle vgleqqaelm
     2581 lkmmstlead silqaltnts ptlsqsptgt ddsllgglqa anqtsqliiq lssvpmlnvc
     2641 fnklfsmlqv hhvqlesllq lwltlslnss stgnkengad iflynanrip vislnqasit
     2701 sfltvlawyp ntllrtwclv lhsltlmtnm qlnsgsssai gtqestahll vsdpnlihvl
     2761 vkflsgtsph gtnqhspqvg ptatqamqef ltrlqvhlss tcpqifsefl lklihilste
     2821 rgafqtgqgp ldaqvkllef tleqnfevvs vstisavies vtflvhhyit csdkvmsrsg
     2881 sdssvgarac fgglfanlir pgdakavcge mtrdqlmfdl lklvnilvql plsgnreysa
     2941 rvsvttnttd svsdeekvsg gkdgngssts vqgspayvad lvlanqqims qilsalglcn
     3001 ssamamiiga sglhltkhen fhggldaisv gdglftiltt lskkastvhm mlqpiltyma
     3061 cgymgrqgsl atcqlsepll wfilrvldts dalkafhdmg gvqlicnnmv tstraivnta
     3121 rsmvstimkf ldsgpnkavd stlktrilas epdnaegihn faplgtitss sptaqpaevl
     3181 lqatpphrra rsaawsyifl peeawcdlti hlpaavllke ihiqphlasl atcpssvsve
     3241 vsadgvnmlp lstpvvtsgl tyikiqlvka evasavclrl hrprdastlg lsqikllglt
     3301 afgttssatv nnpflpsedq vsktsigwlr llhhclthis dlegmmasaa aptanllqtc
     3361 aallmspycg mhspnievvl vkiglqstri glklidillr ncaasgsdpt dlnspllfgr
     3421 lnglssdsti dilyqlgttq dpgtkdriqa llkwvsdsar vaamkrsgrm nymcpnsstv
     3481 eygllmpsps hlhcvaailw hsyellveyd lpalldqelf ellfnwsmsl pcnmvlkkav
     3541 dsllcsmchv hpnyfsllmg wmgitpppvq chhrlsmtdd skkqdlsssl tddsknaqap
     3601 lalteshlat lasssqspea ikqlldsglp sllvrslasf cfshissses iaqsidisqd
     3661 klrrhhvpqq cnkmpitadl vapilrflte vgnshimkdw lggsevnplw tallfllchs
     3721 gstsgshnlg aqqtsarsas lssaattglt tqqrtaiena tvafflqcis chpnnqklma
     3781 qvlcelfqts pqrgnlptsg nisgfirrlf lqlmledekv tmflqspcpl ykgrinatsh
     3841 viqhpmygag hkfrtlhlpv sttlsdvldr vsdtpsitak liseqkddke kknheekekv
     3901 kaengfqdny svvvasglks qskravsatp prppsrrgrt ipdkigstsg aeaankiitv
     3961 pvfhlfhkll agqplpaemt laqlltllyd rklpqgyrsi dltvklgsrv itdpslsktd
     4021 sykrlhpekd hgdllascpe dealtpgdec mdgildesll etcpiqsplq vfagmgglal
     4081 iaerlpmlyp eviqqvsapv vtsttqekpk dsdqfewvti eqsgelvyea petvaaeppp
     4141 iksavqtmsp ipahslaafg lflrlpgyae vllkerkhaq cllrlvlgvt ddgegshilq
     4201 spsanvlptl pfhvlrslfs ttplttddgv llrrmaleig alhlilvcls alshhsprvp
     4261 nssvnqtepq vssshnptst eeqqlywakg tgfgtgstas gwdveqaltk qrleeehvtc
     4321 llqvlasyin pvssavngea qsshetrgqn snalpsvlle llsqsclipa mssylrndsv
     4381 ldmarhvply rallellrai ascaamvpll lplstengee eeeqsecqts vgtllakmkt
     4441 cvdtytnrlr skrenvktgv kpdasdqepe gltllvpdiq ktaeivyaat tslrqanqek
     4501 klgeyskkaa mkpkplsvlk sleekyvavm kklqfdtfem vsededgklg fkvnyhymsq
     4561 vknandansa ararrlaqea vtlstslpls ssssvfvrcd eerldimkvl itgpadtpya
     4621 ngcfefdvyf pqdypssppl vnlettgghs vrfnpnlynd gkvclsilnt whgrpeekwn
     4681 pqtssflqvl vsvqslilva epyfnepgye rsrgtpsgtq ssreydgnir qatvkwamle
     4741 qirnpspcfk evihkhfylk rveimaqcee wiadiqqyss dkrvgrtmsh haaalkrhta
     4801 qlreellklp cpegldpdtd dapevcratt gaeetlmhdq vkpssskelp sdfql
//
LOCUS       XP_054200377             635 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-dependent multivitamin transporter isoform X1 [Homo
            sapiens].
ACCESSION   XP_054200377
VERSION     XP_054200377.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344402.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..635
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..635
                     /product="sodium-dependent multivitamin transporter
                     isoform X1"
                     /calculated_mol_wt=68511
     CDS             1..635
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; NERIB; SMVT; SMVTD"
                     /coded_by="XM_054344402.1:294..2201"
                     /db_xref="GeneID:8884"
                     /db_xref="HGNC:HGNC:11041"
                     /db_xref="MIM:604024"
ORIGIN      
        1 msvgvstsap lsptsgtsvg mstfsimdyv vfvlllvlsl aiglyhacrg wgrhtvgell
       61 madrkmgclp valsllatfq savailgvps eiyrfgtqyw flgccyflgl lipahifipv
      121 fyrlhltsay eylelrfnkt vrvcgtvtfi fqmviymgvv lyapslalna vtgfdlwlsv
      181 lalgivctvy talgglkavi wtdvfqtlvm flgqlaviiv gsakvgglgr vwavasqhgr
      241 isgfeldpdp fvrhtfwtla fggvfmmlsl ygvnqaqvqr ylssrtekaa vlscyavfpf
      301 qqvslcvgcl iglvmfayyq eypmsiqqaq aapdqfvlyf vmdllkglpg lpglfiaclf
      361 sgslstissa fnslatvtme dlirpwfpef searaimlsr glafgygllc lgmayissqm
      421 gpvlqaaisi fgmvggpllg lfclgmffpc anppgavvgl laglvmafwi gigsivtsmg
      481 ssmppspsng ssfslptnlt vatvttlmpl ttfskptglq rfyslsylwy sahnsttviv
      541 vglivslltg rmrgrslnpa tiypvlpkll sllplscqkr lhcrsygqdh ldtglfpekp
      601 rngvlgdsrd keamaldgta yqgssstcil qetsl
//
LOCUS       XP_054179929             297 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription elongation factor A protein 2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054179929
VERSION     XP_054179929.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323954.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 10% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..297
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..297
                     /product="transcription elongation factor A protein 2
                     isoform X2"
                     /calculated_mol_wt=32909
     CDS             1..297
                     /gene="TCEA2"
                     /gene_synonym="TFIIS"
                     /coded_by="XM_054323954.1:229..1122"
                     /db_xref="GeneID:6919"
                     /db_xref="HGNC:HGNC:11614"
                     /db_xref="MIM:604784"
ORIGIN      
        1 mdllrelkam pitlhllqst rvgmsvnalr kqssdeevia lakslikswk klldasdaka
       61 rergrgmplp tssrdaseap dpsrkrpelp rapstpritt fppvpvtcda vrnkcremlt
      121 aalqtdhdhv aigadcerls aqieecifrd vgntdmkykn rvrsrisnlk daknpdlrrn
      181 vlcgaitpqq iavmtseema sdelkeirka mtkeairehq martggtqtd lftcgkcrkk
      241 nctytqvqtr ssdepmttfv vcnecgnrwk vgeqaqaapp ssilwrwgvs asvgsvv
//
LOCUS       XP_054181697            1204 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA helicase Mov10l1 isoform X5 [Homo sapiens].
ACCESSION   XP_054181697
VERSION     XP_054181697.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325722.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1204
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1204
                     /product="RNA helicase Mov10l1 isoform X5"
                     /calculated_mol_wt=134445
     CDS             1..1204
                     /gene="MOV10L1"
                     /gene_synonym="CHAMP; DJ402G11.8; SPGF73"
                     /coded_by="XM_054325722.1:211..3825"
                     /db_xref="GeneID:54456"
                     /db_xref="HGNC:HGNC:7201"
                     /db_xref="MIM:605794"
ORIGIN      
        1 middmiyfss davtsrvlln vgqeviavve enkvsnglka irveavsdkw eddsrnhgsp
       61 sdcgprvlig cvtslvegag cisqttyfsl esvcegfepc kgdwveaeyr irpgtwssea
      121 tsvkplrykr vdkvcisslc grngvleesi fftldslklp dgytprrgdv vnavvvessq
      181 scyvwralcm tlvkrrdaap vheathfygt illknkgdie vtqvthfgtl kegrsktmvi
      241 wienkgdipq nlvscklagw dkskqfrfqm ldkdqmcpvv sfvsvpeken ssdeninsln
      301 shtknktsqm sesslvnnrg ispgdctckg engekdnils rkqmtepepg glvppggktf
      361 ivvicdgknp grckellllc fsdfligryl evnvisgees liaarepfsw kklkssqalt
      421 sakttvvvta qkrnsrrqlp sflpqypipd rlrkcveqki diltfqplla ellnmsnyke
      481 kfstllwlee iyaemelkey nmsgiilrrn gdllvlevpg laegrpslya gdklilktqe
      541 ynghaieyis yvteiheedv tlkinpefeq aynfepmdve ftynrttsrr chfalehvih
      601 lgvkvlfpee iilqspqvtg nwnhaqdtks sgqstskknr ktmtdqaehg teerrvgdkd
      661 lpvlapftae msdwvdeiqt pkarkmeffn pvlnenqkla vkrilsgdcr plpyilfgpp
      721 gtgktvtiie avlqvhfalp dsrilvcaps nsaadlvclr lheskvlqpa tmvrvnatcr
      781 feeividavk pycrdgediw kasrfriiit tcsssglfyq igvrvghfth vfvdeagqas
      841 epecliplgl msdisgqivl agdpmqlgpv iksrlamayg lnvsflerlm srpayqrden
      901 afgacgahnp llvtklvkny rsheallmlp srlfyhrele vcadptvvts llgweklpkk
      961 gfplifhgvr gsearegksp swfnpaeavq vlryccllah sissqvsasd igvitpyrkq
     1021 wlwssggdtg ashaehqvsf mkhvslwcsh hqaelgknpq nteekvekir illrnvdlmd
     1081 ikvgsveefq gqeylviiis tvrsnedrfe ddryflgfls nskrfnvait rpkallivlg
     1141 nphvlvrdpc fgalleysit ngvymgcdlp palqslqncg egvadpsypv vpestgpekh
     1201 qeps
//
LOCUS       XP_054203298             297 aa            linear   PRI 20-MAR-2023
DEFINITION  phospholipid scramblase 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054203298
VERSION     XP_054203298.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347323.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..297
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..297
                     /product="phospholipid scramblase 2 isoform X2"
                     /calculated_mol_wt=33373
     CDS             1..297
                     /gene="PLSCR2"
                     /coded_by="XM_054347323.1:247..1140"
                     /db_xref="GeneID:57047"
                     /db_xref="HGNC:HGNC:16494"
                     /db_xref="MIM:607610"
ORIGIN      
        1 mrswnslfcl nssrppghiv ypkhqaghtg kqadhlgsqa fypgrqhdyl vppagtagip
       61 vqnqpgrpeg vpwmpapppp lncppgleyl sqidmilihq qiellevlfs fessnmyeik
      121 nsfgqriyfa aedtnfcirn ccgrsrpftl ritdnvgrev itlerplrcn ccccpcclqe
      181 ieiqappgvp vgyvtqtwhp cltkftiknq kredvlkisg pcivcsciag vdfeitslde
      241 qivvgriskh wsgflreaft dadnfgiqfp rdldvkmkav migacflidy mffertr
//
LOCUS       XP_054209946             198 aa            linear   PRI 20-MAR-2023
DEFINITION  signal transducer CD24 isoform X1 [Homo sapiens].
ACCESSION   XP_054209946
VERSION     XP_054209946.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353971.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..198
                     /product="signal transducer CD24 isoform X1"
                     /calculated_mol_wt=20306
     CDS             1..198
                     /gene="CD24"
                     /gene_synonym="CD24A"
                     /coded_by="XM_054353971.1:1008..1604"
                     /db_xref="GeneID:100133941"
                     /db_xref="HGNC:HGNC:1645"
                     /db_xref="MIM:600074"
ORIGIN      
        1 mhragerdrg lglgdpsggg geegtfvwvs sgledgsdgs papsigvnrg lslgllpqsw
       61 arcvlrpqts kvrahlgvqp ecgtrfptag gvtvpyclpp splrsrafln slmgegrgce
      121 kpapstprpi fsptrffssn iiyssetttg tssnssqsts nsglapnptn attkaaggal
      181 qstaslfvvs lsllhlys
//
LOCUS       XP_054210080             334 aa            linear   PRI 20-MAR-2023
DEFINITION  butyrophilin subfamily 3 member A2 isoform X2 [Homo sapiens].
ACCESSION   XP_054210080
VERSION     XP_054210080.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354105.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..334
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..334
                     /product="butyrophilin subfamily 3 member A2 isoform X2"
                     /calculated_mol_wt=36297
     CDS             1..334
                     /gene="BTN3A2"
                     /gene_synonym="BT3.2; BTF4; BTN3.2; CD277"
                     /coded_by="XM_054354105.1:116..1120"
                     /db_xref="GeneID:11118"
                     /db_xref="HGNC:HGNC:1139"
                     /db_xref="MIM:613594"
ORIGIN      
        1 mkmasslafl llnfhvslll vqlltpcsaq fsvlgpsgpi lamvgedadl pchlfptmsa
       61 etmelkwvss slrqvvnvya dgkevedrqs apyrgrtsil rdgitagkaa lrihnvtasd
      121 sgkylcyfqd gdfyekalve lkvaalgsnl hvevkgyedg gihlecrstg wypqpqiqws
      181 nakgenipav eapvvadgvg lyevaasvim rggsgegvsc iirnsllgle ktasisiadp
      241 ffrsaqpwia alagtlpill lllagasyfl wrqqkeital sseieseqem kemgyaater
      301 eislreslqe elkrkkiqyl trgeesssdt nksa
//
LOCUS       XP_054211250            2707 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 40 isoform X3 [Homo sapiens].
ACCESSION   XP_054211250
VERSION     XP_054211250.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355275.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2707
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2707
                     /product="zinc finger protein 40 isoform X3"
                     /calculated_mol_wt=295278
     CDS             1..2707
                     /gene="HIVEP1"
                     /gene_synonym="CIRIP; CRYBP1; GAAP; MBP-1; PRDII-BF1;
                     Schnurri-1; ZAS1; ZNF40; ZNF40A"
                     /coded_by="XM_054355275.1:5507..13630"
                     /db_xref="GeneID:3096"
                     /db_xref="HGNC:HGNC:4920"
                     /db_xref="MIM:194540"
ORIGIN      
        1 madkieeaqk elngaevskk eilqagvkgt seslkgvkrk kivaenhlkk ipksplrnpl
       61 qakhkqntee ssfavlhsas eshkkqnyip vkngkqftkq ngetpgiiae askseesvsp
      121 kkplflqqps elrrwrsega dpakfsdlde qcdssslssk trtdnsecis shcgttspsy
      181 tntafdvllk amepelstls qkgspcaikt eklrpnktar sppklknssm dapnqtsqel
      241 vaesqsscts ytvhmsaaqk neqgamqsas hlyhqhehfv pksnqhnqql pgcsgftgsl
      301 tnlqnqenak leqvyniavt ssvgltspss rsqvtpqnqq mdsasplsis panstqsppm
      361 piynsthvas vvnqsveqmc nlllkdqkpk kqgkyiceyc nracakpsvl lkhirshtge
      421 rpypcvtcgf sfktksnlyk hkkshahtik lglvlqpdag glflshespk alsihsdved
      481 sgeseeegat derqhdlgam elqpvhiikr msnaetllks sftpsspenv igdfllqdrs
      541 aesqavtelp kvvvhhvtvs plrtdspkam dpkpelssaq kqkdlqvtnv qplsanmsqg
      601 gvsrletnen shqkgdmnpl egkqdshvgt vhaqlqrqqa tdysqeqqgk llsprslgst
      661 dsgyfsrses adqtvspptp farrlpsteq dsgrsngpsa alvttstpsa lptgekalll
      721 pgqmrpplat ktleeriskl isdnealvdd kqldsvkprr tslsrrgsid spksyifkds
      781 fqfdlkpvgr rtssssdipk spftpteksk qvfllsvpsl dclpitrsns mpttgysavp
      841 aniippphpl rgsqsfddki gafyddvfvs gpnapvpqsg hprtlvrqaa iedssanesh
      901 vlgtgqslde shqgchaage amsvrskala qgphiekkks hqgrgtmfec etcrnryrkl
      961 enfenhkkfy cselhgpktk vamrepehsp vpgglqpqil hyrvagssgi weqtpqirkr
     1021 rkmksvgdde elqqnesgts pksseglqfq nalgcnpslp khnvtirsdq qhkniqlqns
     1081 hihlvargpe qtmdpklsti meqqissaaq dkielqrhgt gisviqhtns lsrpnsfdkp
     1141 epferaspvs fqelnrtgks gslkvigisq eeshpsrdgs hphqlalsda lrgelqessr
     1201 kspserhvlg qpsrlvrqhn iqvpeilvte epdrdleaqc hdqeksekfs wpqrsetlsk
     1261 lpteklppkk krlrlaeieh sstessfdst lsrslsress lshtssfsas ldiedvskte
     1321 aspkidflnk aeflmipagl ntlnvpgchr emrrtaseqi nctqtsmevs dlrsksfdcg
     1381 sitppqttpl telqppssps rvgvtghvpl lerrrgplvr qislniapds hlspvhptsf
     1441 qntalpsvna vpyqgpqlts tslaefsant lhsqtqvkdl qaetsnssst nvfpvqqlcd
     1501 inllnqihap pshqstqlsl qvstqgskpd knsvlsgssk sedcfapkyq lhcqvftsgp
     1561 scssnpvhsl pnqvisdpvg tdhcvtsatl ptklidsmsn shpllppelr plgsqvqkvp
     1621 ssfmlpirlq ssvpaycfat ltslpqilvt qdlpnqpicq tnhsvvpise eqnsvptlqk
     1681 ghqnalpnpe keflcenvfs emsqnsslse slpitqkisv grlspqqess asskrmlspa
     1741 nsldiamekh qkrakdenga vcatdvrple alssrvneas kqkkpilvrq vcttepldgv
     1801 mlekdvfsqp eisneavnlt nvlpadnsst gcskfvviep iselqefeni ksstsltltv
     1861 rsspapsent hisplkctdn nqerkspgvk nqgdkvniqe qsqqpvtsls lfnikdtqql
     1921 afpslktttn ftwcyllrqk slhlpqkdqk tsaytdwtvs asnpnplglp tkvalallns
     1981 kqntgkslyc qaitthsksd llvysskwks slskralgnq kstvvefsnk daseinseqd
     2041 kensliksep rrikifdggy ksneeyvyvr grgrgkyice ecgirckkps mlkkhirtht
     2101 dvrpyhctyc nfsfktkgnl tkhmkskahs kkcvdlgvsv glideqdtee sdekqrfsye
     2161 rsgydleesd gpdeddnene dddedsqaes vlsatpsvta spqhlpsrss lqdpvstded
     2221 vritdcfsgv htdpmdvlpr alltrmtvls taqsdynrkt lspgkarqra ardendtips
     2281 vdtsrspchq msvdypesee ilrssmagka vaitqspssv rlppaaaehs pqtaagmpsv
     2341 asphpdpqeq kqqitlqptp glpsphthlf shlplhsqqq srtpynmvpv ggihvvpagl
     2401 tystfvplqa gpvqltipav svvhrtlgth rntvtevsgt tnpagvaels svvpcipigq
     2461 irvpglqnls tpglqslpsl smetvnivgl antnmapqvh ppglalnavg lqvltanpss
     2521 qsspapqahi pglqilnial ptlipsvsqv avdaqgapem pasqskacet qpkqtsvasa
     2581 nqvsrtespq glptvqrena kkvlnppapa gdharldgls kmdtekaasa nhvkpkpelt
     2641 siqgqpasts qpllkahsev ftkpsgqqtl spdrqvprpt alprrqptvh fsdvssddde
     2701 drlviat
//
LOCUS       XP_054211937             413 aa            linear   PRI 20-MAR-2023
DEFINITION  probable arginine--tRNA ligase, mitochondrial isoform X2 [Homo
            sapiens].
ACCESSION   XP_054211937
VERSION     XP_054211937.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355962.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..413
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..413
                     /product="probable arginine--tRNA ligase, mitochondrial
                     isoform X2"
                     /calculated_mol_wt=46990
     CDS             1..413
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /coded_by="XM_054355962.1:117..1358"
                     /db_xref="GeneID:57038"
                     /db_xref="HGNC:HGNC:21406"
                     /db_xref="MIM:611524"
ORIGIN      
        1 mqfgllgtgf qlfgyeeklq snplqhlfev yvqvnkeaad dksvakaaqe ffqrlelgdv
       61 qalslwqkfr dlsieeyirv ykrlgvyfde ysgesfyrek sqevlklles kglllrtikg
      121 tavvdlsgng dpssictvmr sdgtslyatr dlaaaidrmd kynfdtmiyv tdkgqkkhfq
      181 qvfqmlkimg ydwaercqhv pfgvvqgmkt rrgdvtfled vlneiqlrml qnmasikttk
      241 elknpqetae rvglaaliiq dfkglllsdy kfswdrvfqs rgdtgvflqy tharlhslee
      301 tfgcgylndf ntaclqepqs vsilqhllrf devlykssqd fqprhivsyl ltlshlaava
      361 hktlqikdsp pevagarlhl fkavrsvlan gmkllgitpm efrsccpgws amv
//
LOCUS       XP_054212243             167 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription initiation factor TFIID subunit 11 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054212243
VERSION     XP_054212243.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356268.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..167
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..167
                     /product="transcription initiation factor TFIID subunit 11
                     isoform X1"
                     /calculated_mol_wt=18903
     CDS             1..167
                     /gene="TAF11"
                     /gene_synonym="MGC:15243; PRO2134; TAF2I; TAFII28"
                     /coded_by="XM_054356268.1:2595..3098"
                     /db_xref="GeneID:6882"
                     /db_xref="HGNC:HGNC:11544"
                     /db_xref="MIM:600772"
ORIGIN      
        1 megtlltspl knklesqdvs dlttvereds sllnpaakkl kidtkekkek kqkvdedeiq
       61 kmqilvssfs eeqlnryemy rrsafpkaai krliqsitgt svsqnvviam sgiskvfvge
      121 vveealdvce kwgempplqp khmreavrrl kskgqipnsk hkkiiff
//
LOCUS       XP_054214116             305 aa            linear   PRI 20-MAR-2023
DEFINITION  probable G-protein coupled receptor 141 isoform X7 [Homo sapiens].
ACCESSION   XP_054214116
VERSION     XP_054214116.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358141.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..305
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..305
                     /product="probable G-protein coupled receptor 141 isoform
                     X7"
                     /calculated_mol_wt=35333
     CDS             1..305
                     /gene="GPR141"
                     /gene_synonym="PGR13"
                     /coded_by="XM_054358141.1:170..1087"
                     /db_xref="GeneID:353345"
                     /db_xref="HGNC:HGNC:19997"
                     /db_xref="MIM:609045"
ORIGIN      
        1 mpghntsrns scdpivtphl islyfivlig glvgvisilf llvkmntrsv ttmavinlvv
       61 vhsvflltvp frltylikkt wmfglpfckf vsamlhihmy ltflfyvvil vtryliffkc
      121 kdkvefyrkl havaasagmw tlvivivvpl vvsrygihee yneehcfkfh kelaytyvki
      181 inymivifvi avavillvfq vfiimlmvqk lrhsllshqe fwaqlknlff igvilvcflp
      241 yqffriyyln vvthsnacns kvafyneifl svtaiscydl llfvfggshw fkqkiiglwn
      301 cvlcr
//
LOCUS       XP_054183282            1737 aa            linear   PRI 20-MAR-2023
DEFINITION  BCL-6 corepressor isoform X2 [Homo sapiens].
ACCESSION   XP_054183282
VERSION     XP_054183282.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327307.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1737
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1737
                     /product="BCL-6 corepressor isoform X2"
                     /calculated_mol_wt=190091
     CDS             1..1737
                     /gene="BCOR"
                     /gene_synonym="ANOP2; MAA2; MCOPS2"
                     /coded_by="XM_054327307.1:104..5317"
                     /db_xref="GeneID:54880"
                     /db_xref="HGNC:HGNC:20893"
                     /db_xref="MIM:300485"
ORIGIN      
        1 mlsatplygn vhswmnserv rmcgasedrk ilvndgdask arlelreenp lnhnvvdast
       61 ahridglaal smdrtglire glrvpgnivy sslcglgsek greaatstlg glgfssernp
      121 emqfkpntpe tveasavsgk ppngfsaiyk tppgiqksav ataealgldr pasdkqspln
      181 ingasylrlp wvnpymegat paiypfldsp nkyslnmyka llpqqsysla qplyspvctn
      241 gerflylppp hyvgphipss laspmrlstp saspaipplv hcadkslpwk mgvspgnpvd
      301 shayphiqns kqprvpsaka vtsglpgdta lllppsprps prvhlptqpa adtysefhkh
      361 yaristspsv alskpymtvs sefpaarlsn gkypkapegg egaqpvpgha rktavqdrkd
      421 gssppllekq tvtkdvtdkp ldlsskvvdv daskadhmkk maptvlvhsr agsglvlsgs
      481 eipketlspp gngcaiyrse iistapsswv vpgpspneen ngksmslknk aldwaipqqr
      541 ssscprmggt davitnvsgs vssagrpasa spapnanadg tktsrssvet tpsviqhvgq
      601 ppatpakhss stsskgakas npepsfkane nglppssifl spneafrspp ipyprsylpy
      661 papegiavsp lslhgkgpvy phpvllpngs lfpghlapkp glpyglptgr pefvtyqdal
      721 glgmvhpmli phtpieitke ekperrsrsh eraryedptl rnrfseilet sstklhpdvp
      781 tdknlkpnpn wnqgktvvks dklvyvdllr eepdaktdtn vskpsfaaes vgqsaeppkp
      841 svepalqqhr dfialreelg risdfhetyt fkqpvftvsk dsvlagtnke nlglpvstpf
      901 lepplgsdgp avtfgktqed pkpfcvgsap psvdvtptyt kdgadeaesn dgkvlkpkps
      961 klakriansa gyvgdrfkcv ttelyadssq lsreqralqr ammrfselem keregghpat
     1021 kdsemckfsp adwerlkgnq dkkpksvtle eaiaeqnese rceysvgnkh rdpfeapedk
     1081 dlpvekyfve rqpvseppad qvasdmphsp tlrvdrkrkv sgdsshtett aeevpedpll
     1141 kakrrrvskd dwperemtns ssnhledphy seltnlkvci eltglhpkkq rhllhlrerw
     1201 eqqvsaadgk pgrqsrkevt qatqpeaipq gtniteekpg rkraeakgnr swseeslkps
     1261 dneqglpvfs gsppmkslss tsaggkkqaq pscapasrpp akqqkikenq ktdvlcadee
     1321 edcqaasllq kytdnsekps gkrlcktkhl ipqesrrglp ltgeyyvena dgkvtvrrfr
     1381 krpepssdyd lspakqepkp fdrlqqllpa sqstqlpcss spqettqsrp mppearrliv
     1441 nknagetllq raarlgyeev vlyclenkic dvnhrdnagy calheacarg wlnivrhlle
     1501 ygadvncsaq dgtrplhdav endhleivrl llsygadptl atysgrtimk mthselmekf
     1561 ltdylndlqg rndddasgtw dfygssvcep ddesgydvla nppgpedqdd dddaysdvfe
     1621 fefsetpllp cyniqvsvaq gprnwlllsd vlkklkmssr ifrcnfpnve ivtiaeaefy
     1681 rqvsasllfs cskdleafnp eskelldlve ftneiqtllg ssvewlhpsd lasdnyw
//
LOCUS       NP_001380828             120 aa            linear   PRI 22-MAR-2023
DEFINITION  26S proteasome complex subunit SEM1 isoform a [Homo sapiens].
ACCESSION   NP_001380828
VERSION     NP_001380828.1
DBSOURCE    REFSEQ: accession NM_001393899.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 120)
  AUTHORS   Ruidiaz SF, Dreier JE, Hartmann-Petersen R and Kragelund BB.
  TITLE     The disordered PCI-binding human proteins CSNAP and DSS1 have
            diverged in structure and function
  JOURNAL   Protein Sci 30 (10), 2069-2082 (2021)
   PUBMED   34272906
  REMARK    GeneRIF: The disordered PCI-binding human proteins CSNAP and DSS1
            have diverged in structure and function.
REFERENCE   2  (residues 1 to 120)
  AUTHORS   Gondo N, Sakai Y, Zhang Z, Hato Y, Kuzushima K, Phimsen S,
            Kawashima Y, Kuroda M, Suzuki M, Okada S, Iwata H, Toyama T, Rezano
            A and Kuwahara K.
  TITLE     Increased chemosensitivity via BRCA2-independent DNA damage in
            DSS1- and PCID2-depleted breast carcinomas
  JOURNAL   Lab Invest 101 (8), 1048-1059 (2021)
   PUBMED   34031538
  REMARK    GeneRIF: Increased chemosensitivity via BRCA2-independent DNA
            damage in DSS1- and PCID2-depleted breast carcinomas.
REFERENCE   3  (residues 1 to 120)
  AUTHORS   Lee M, Shorthouse D, Mahen R, Hall BA and Venkitaraman AR.
  TITLE     Cancer-causing BRCA2 missense mutations disrupt an intracellular
            protein assembly mechanism to disable genome maintenance
  JOURNAL   Nucleic Acids Res 49 (10), 5588-5604 (2021)
   PUBMED   33978741
  REMARK    GeneRIF: Cancer-causing BRCA2 missense mutations disrupt an
            intracellular protein assembly mechanism to disable genome
            maintenance.
REFERENCE   4  (residues 1 to 120)
  AUTHORS   Alagar S and Bahadur RP.
  TITLE     DSS1 allosterically regulates the conformation of the tower domain
            of BRCA2 that has dsDNA binding specificity for homologous
            recombination
  JOURNAL   Int J Biol Macromol 165 (Pt A), 918-929 (2020)
   PUBMED   33011260
  REMARK    GeneRIF: DSS1 allosterically regulates the conformation of the
            tower domain of BRCA2 that has dsDNA binding specificity for
            homologous recombination.
REFERENCE   5  (residues 1 to 120)
  AUTHORS   Le HP, Ma X, Vaquero J, Brinkmeyer M, Guo F, Heyer WD and Liu J.
  TITLE     DSS1 and ssDNA regulate oligomerization of BRCA2
  JOURNAL   Nucleic Acids Res 48 (14), 7818-7833 (2020)
   PUBMED   32609828
  REMARK    GeneRIF: DSS1 and ssDNA regulate oligomerization of BRCA2.
REFERENCE   6  (residues 1 to 120)
  AUTHORS   Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ and
            Ashworth A.
  TITLE     Interaction between the product of the breast cancer susceptibility
            gene BRCA2 and DSS1, a protein functionally conserved from yeast to
            mammals
  JOURNAL   Mol Cell Biol 19 (7), 4633-4642 (1999)
   PUBMED   10373512
REFERENCE   7  (residues 1 to 120)
  AUTHORS   Jantti J, Lahdenranta J, Olkkonen VM, Soderlund H and Keranen S.
  TITLE     SEM1, a homologue of the split hand/split foot malformation
            candidate gene Dss1, regulates exocytosis and pseudohyphal
            differentiation in yeast
  JOURNAL   Proc Natl Acad Sci U S A 96 (3), 909-914 (1999)
   PUBMED   9927667
REFERENCE   8  (residues 1 to 120)
  AUTHORS   Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S,
            Cobben JM, Hudgins L, Evans JP and Tsui LC.
  TITLE     Characterization of the split hand/split foot malformation locus
            SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its
            expression during limb development
  JOURNAL   Hum Mol Genet 5 (5), 571-579 (1996)
   PUBMED   8733122
REFERENCE   9  (residues 1 to 120)
  AUTHORS   Roberts SH, Hughes HE, Davies SJ and Meredith AL.
  TITLE     Bilateral split hand and split foot malformation in a boy with a de
            novo interstitial deletion of 7q21.3
  JOURNAL   J Med Genet 28 (7), 479-481 (1991)
   PUBMED   1895319
REFERENCE   10 (residues 1 to 120)
  AUTHORS   Sharland M, Patton MA and Hill L.
  TITLE     Ectrodactyly of hands and feet in a child with a complex
            translocation including 7q21.2
  JOURNAL   Am J Med Genet 39 (4), 413-414 (1991)
   PUBMED   1877619
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073230.8.
            
            Summary: The product of this gene has been localized within the
            split hand/split foot malformation locus SHFM1 at chromosome 7. It
            has been proposed to be a candidate gene for the autosomal dominant
            form of the heterogeneous limb developmental disorder split
            hand/split foot malformation type 1. In addition, it has been shown
            to directly interact with BRCA2. It also may play a role in the
            completion of the cell cycle. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (10) encodes the longest isoform
            (a). Variants 9 and 10 both encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3025453.1,
                                           SRR12921934.1492788.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2145544
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..120
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.3"
     Protein         1..120
                     /product="26S proteasome complex subunit SEM1 isoform a"
                     /note="deleted in split-hand/split-foot 1; SEM1 26S
                     proteasome complex subunit; 26S proteasome complex subunit
                     DSS1; split hand/foot malformation (ectrodactyly) type 1;
                     split hand/foot deleted protein 1; deleted in split
                     hand/split foot protein 1; split hand/foot malformation
                     type 1 protein; 26S proteasome complex subunit SEM1"
                     /calculated_mol_wt=13849
     Region          <23..57
                     /region_name="DSS1_Sem1"
                     /note="proteasome complex subunit DSS1/Sem1; cd13768"
                     /db_xref="CDD:259841"
     CDS             1..120
                     /gene="SEM1"
                     /gene_synonym="C7orf76; DSS1; ECD; PSMD15; SHFD1; Shfdg1;
                     SHFM1; SHSF1"
                     /coded_by="NM_001393899.1:84..446"
                     /note="isoform a is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS94148.1"
                     /db_xref="GeneID:7979"
                     /db_xref="HGNC:HGNC:10845"
                     /db_xref="MIM:601285"
ORIGIN      
        1 msekkqpvdl glleeddefe efpaedwagl dededahvwe dnwdddnved dfsnqlrhsi
       61 isthkrwhsa rlrrcpppfp esrpslthtr tteasplvll lvtppqlpli hpsiypawvm
//
LOCUS       NP_001366575            1732 aa            linear   PRI 03-APR-2023
DEFINITION  kinesin-like protein KIF1A isoform 10 [Homo sapiens].
ACCESSION   NP_001366575
VERSION     NP_001366575.1
DBSOURCE    REFSEQ: accession NM_001379646.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1732)
  AUTHORS   Xu G, Li J, Deng Z, Xia Y, Wang T, Bai Y, Qi Y and Zhou YA.
  TITLE     [Analysis of KIF1A gene variant in a Chinese pedigree affected with
            Spastic paraplegia type 30]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (4), 419-422 (2023)
   PUBMED   36972935
  REMARK    GeneRIF: [Analysis of KIF1A gene variant in a Chinese pedigree
            affected with Spastic paraplegia type 30].
REFERENCE   2  (residues 1 to 1732)
  AUTHORS   Chiba K, Kita T, Anazawa Y and Niwa S.
  TITLE     Insight into the regulation of axonal transport from the study of
            KIF1A-associated neurological disorder
  JOURNAL   J Cell Sci 136 (5) (2023)
   PUBMED   36655764
  REMARK    GeneRIF: Insight into the regulation of axonal transport from the
            study of KIF1A-associated neurological disorder.
            Review article
REFERENCE   3  (residues 1 to 1732)
  AUTHORS   Hsu SL, Liao YC, Lin KP, Lin PY, Yu KW, Tsai YS, Guo YC and Lee YC.
  TITLE     Investigating KIF1A mutations in a Taiwanese cohort with hereditary
            spastic paraplegia
  JOURNAL   Parkinsonism Relat Disord 103, 144-149 (2022)
   PUBMED   36155026
  REMARK    GeneRIF: Investigating KIF1A mutations in a Taiwanese cohort with
            hereditary spastic paraplegia.
REFERENCE   4  (residues 1 to 1732)
  AUTHORS   Anazawa Y, Kita T, Iguchi R, Hayashi K and Niwa S.
  TITLE     De novo mutations in KIF1A-associated neuronal disorder (KAND)
            dominant-negatively inhibit motor activity and axonal transport of
            synaptic vesicle precursors
  JOURNAL   Proc Natl Acad Sci U S A 119 (32), e2113795119 (2022)
   PUBMED   35917346
  REMARK    GeneRIF: De novo mutations in KIF1A-associated neuronal disorder
            (KAND) dominant-negatively inhibit motor activity and axonal
            transport of synaptic vesicle precursors.
REFERENCE   5  (residues 1 to 1732)
  AUTHORS   Keller MP, Seifried BA, Rabin BA and Chance PF.
  TITLE     Mapping of the kinesin-related gene ATSV to chromosome 2q37
  JOURNAL   Hum Genet 104 (3), 254-256 (1999)
   PUBMED   10323250
REFERENCE   6  (residues 1 to 1732)
  AUTHORS   Furlong RA, Zhou CY, Ferguson-Smith MA and Affara NA.
  TITLE     Characterization of a kinesin-related gene ATSV, within the
            tuberous sclerosis locus (TSC1) candidate region on chromosome 9Q34
  JOURNAL   Genomics 33 (3), 421-429 (1996)
   PUBMED   8661001
REFERENCE   7  (residues 1 to 1732)
  AUTHORS   Okada Y, Yamazaki H, Sekine-Aizawa Y and Hirokawa N.
  TITLE     The neuron-specific kinesin superfamily protein KIF1A is a unique
            monomeric motor for anterograde axonal transport of synaptic
            vesicle precursors
  JOURNAL   Cell 81 (5), 769-780 (1995)
   PUBMED   7539720
REFERENCE   8  (residues 1 to 1732)
  AUTHORS   Kurth,I.
  TITLE     Hereditary Sensory and Autonomic Neuropathy Type II
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21089229
REFERENCE   9  (residues 1 to 1732)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   10 (residues 1 to 1732)
  AUTHORS   Otsuka AJ, Jeyaprakash A, Garcia-Anoveros J, Tang LZ, Fisk G,
            Hartshorne T, Franco R and Born T.
  TITLE     The C. elegans unc-104 gene encodes a putative kinesin heavy
            chain-like protein
  JOURNAL   Neuron 6 (1), 113-122 (1991)
   PUBMED   1846075
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC112784.5 and AC011298.7.
            
            Summary: The protein encoded by this gene is a member of the
            kinesin family and functions as an anterograde motor protein that
            transports membranous organelles along axonal microtubules.
            Mutations at this locus have been associated with spastic
            paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively
            spliced transcript variants encoding distinct isoforms have been
            described. [provided by RefSeq, Apr 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1732
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     Protein         1..1732
                     /product="kinesin-like protein KIF1A isoform 10"
                     /note="kinesin, heavy chain, member 1A, homolog of mouse;
                     kinesin-like protein KIF1A; microtubule-based motor KIF1A;
                     unc-104- and KIF1A-related protein; axonal transporter of
                     synaptic vesicles"
                     /calculated_mol_wt=195269
     Region          4..361
                     /region_name="KISc_KIF1A_KIF1B"
                     /note="Kinesin motor domain, KIF1_like proteins; cd01365"
                     /db_xref="CDD:276816"
     Site            order(13,97,100,102..105,248)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276816"
     Site            order(307,310,313)
                     /site_type="other"
                     /note="microtubule interaction site [polypeptide binding]"
                     /db_xref="CDD:276816"
     Region          358..549
                     /region_name="Kinesin_assoc"
                     /note="Kinesin-associated; pfam16183"
                     /db_xref="CDD:435195"
     Region          525..639
                     /region_name="FHA_KIF1A"
                     /note="forkhead associated (FHA) domain found in
                     kinesin-like protein KIF1A; cd22726"
                     /db_xref="CDD:438778"
     Site            order(532..533,535..536,538..544,546..547,549..550,
                     559..560,562,627,629,631,635)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:438778"
     Region          658..>712
                     /region_name="ERM"
                     /note="Ezrin/radixin/moesin family; pfam00769"
                     /db_xref="CDD:425860"
     Region          839..886
                     /region_name="KIF1B"
                     /note="Kinesin protein 1B; pfam12423"
                     /db_xref="CDD:432544"
     Region          1183..1335
                     /region_name="DUF3694"
                     /note="Kinesin protein; pfam12473"
                     /db_xref="CDD:432581"
     Region          1613..1715
                     /region_name="PH_KIFIA_KIFIB"
                     /note="KIFIA and KIFIB protein pleckstrin homology (PH)
                     domain; cd01233"
                     /db_xref="CDD:269939"
     CDS             1..1732
                     /gene="KIF1A"
                     /gene_synonym="ATSV; C2orf20; HSN2C; MRD9; NESCAVS; SPG30;
                     UNC104"
                     /coded_by="NM_001379646.1:159..5357"
                     /note="isoform 10 is encoded by transcript variant 19"
                     /db_xref="GeneID:547"
                     /db_xref="HGNC:HGNC:888"
                     /db_xref="MIM:601255"
ORIGIN      
        1 magasvkvav rvrpfnsrem srdskciiqm sgstttivnp kqpketpksf sfdysywsht
       61 spedinyasq kqvyrdigee mlqhafegyn vcifaygqtg agksytmmgk qekdqqgiip
      121 qlcedlfsri ndttndnmsy svevsymeiy cervrdllnp knkgnlrvre hpllgpyved
      181 lsklavtsyn diqdlmdsgn kartvaatnm netssrshav fniiftqkrh daetnittek
      241 vskislvdla gseradstga kgtrlkegan inkslttlgk visalaemds gpnknkkkkk
      301 tdfipyrdsv ltwllrenlg gnsrtamvaa lspadinyde tlstlryadr akqircnavi
      361 nedpnnklir elkdevtrlr dllyaqglgd itdtntvpgg pkyvsdlenn nlnrggtvne
      421 apdplstvtn alvgmspsss lsalssraas vsslherilf apgseeaier lketekiiae
      481 lnetweeklr rteairmere allaemgvam redggtlgvf spkktphlvn lnedplmsec
      541 llyyikdgit rvgredgerr qdivlsghfi keehcvfrsd srggseavvt lepcegadty
      601 vngkkvteps ilrsgnriim gkshvfrfnh peqarqerer tpcaetpaep vdwafaqrel
      661 lekqgidmkq emeqrlqele dqyrrereea tylleqqrld yesklealqk qmdsryypev
      721 neeeeepede vqwterecel alwafrkwkw yqftslrdll wgnaiflkea naisvelkkk
      781 vqfqfvlltd tlysplppdl lppeaakdre trpfprtiva vevqdqknga thywtleklr
      841 qrldlmremy draaevpssv iedcdnvvtg gdpfydrfpw frlvgrafvy lsnllypvpl
      901 vhrvaivsek gevkgflrva vqaisadeea pdygsgvrqs gtakisfddq hfekfqsesc
      961 pvvgmsrsgt sqeelriveg qgqgadvgps adevnnntcs avppegllld ssekaaldgp
     1021 ldaaldhlrl gntftfrvtv lqassisaey adifcqfnfi hrhdeafste plkntgrgpp
     1081 lgfyhvqnia vevtksfiey iksqpivfev fghyqqhpfp plckdvlspl rpsrrhfprv
     1141 mplskpvpat klstltrpcp gpchckydll vyfeicelea ngdyipavvd hrggmpcmgt
     1201 fllhqgiqrr itvtllhetg shirwkevre lvvgrirntp etdeslidpn ilslnilssg
     1261 yihpaqddrv slgndtrtfy qfeaawdssm hnslllnrvt pyrekiymtl sayiemenct
     1321 qpavvtkdfc mvfysrdakl pasrsirnlf gsgslrases nrvtgvyels lchvadagsp
     1381 gmqrrrrrvl dtsvayvrge enlagwrprs dslildhqwe leklsllqev ektrhylllr
     1441 ekletaqrpv pealspafse dseshgsssa ssplsaegrp spleapnerq relavkclrl
     1501 lthtfnreyt hshvcvsase sklsemsvtl lrdpsmsplg vatltpsstc pslvegryga
     1561 tdlrtpqpcs rpaspepell peadskklps paratetdke pqrllvpdiq eirvspivsk
     1621 kgylhfleph tsgwarrfvv vrrpyaymyn sdkdtverfv lnlataqvey sedqqamlkt
     1681 pntfavcteh rgillqaasd kdmhdwlyaf npllagtirs klsrrrsaqm rv
//
LOCUS       NP_001337014            1584 aa            linear   PRI 03-APR-2023
DEFINITION  sterile alpha motif domain-containing protein 9-like [Homo
            sapiens].
ACCESSION   NP_001337014
VERSION     NP_001337014.1
DBSOURCE    REFSEQ: accession NM_001350085.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1584)
  AUTHORS   Gahr S, Perinetti Casoni G, Falk-Paulsen M, Maschkowitz G, Bryceson
            YT and Voss M.
  TITLE     Viral host range factors antagonize pathogenic SAMD9 and SAMD9L
            variants
  JOURNAL   Exp Cell Res 425 (2), 113541 (2023)
   PUBMED   36894052
  REMARK    GeneRIF: Viral host range factors antagonize pathogenic SAMD9 and
            SAMD9L variants.
REFERENCE   2  (residues 1 to 1584)
  AUTHORS   Eggermann K, Meyer R, Begemann M, Dey D, Bultmann E, Kurth I,
            Korenke GC and Knopp C.
  TITLE     Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall
            in SAMD9L-Associated Neuropathy
  JOURNAL   Genes (Basel) 13 (12), 2356 (2022)
   PUBMED   36553623
  REMARK    GeneRIF: Clonal Elimination of the Pathogenic Allele as Diagnostic
            Pitfall in SAMD9L-Associated Neuropathy.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1584)
  AUTHORS   Zhang XJ, Xu HS, Li CH, Fu YR and Yi ZJ.
  TITLE     Up-regulated SAMD9L modulated by TLR2 and HIF-1alpha as a promising
            biomarker in tuberculosis
  JOURNAL   J Cell Mol Med 26 (10), 2935-2946 (2022)
   PUBMED   35388602
  REMARK    GeneRIF: Up-regulated SAMD9L modulated by TLR2 and HIF-1alpha as a
            promising biomarker in tuberculosis.
REFERENCE   4  (residues 1 to 1584)
  AUTHORS   Corral-Juan M, Casquero P, Giraldo-Restrepo N, Laurie S,
            Martinez-Pineiro A, Mateo-Montero RC, Ispierto L, Vilas D, Tolosa
            E, Volpini V, Alvarez-Ramo R, Sanchez I and Matilla-Duenas A.
  TITLE     New spinocerebellar ataxia subtype caused by SAMD9L mutation
            triggering mitochondrial dysregulation (SCA49)
  JOURNAL   Brain Commun 4 (2), fcac030 (2022)
   PUBMED   35310830
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1584)
  AUTHORS   Hensel J, Duex JE, Owens C, Dancik GM, Edwards MG, Frierson HF and
            Theodorescu D.
  TITLE     Patient Mutation Directed shRNA Screen Uncovers Novel Bladder Tumor
            Growth Suppressors
  JOURNAL   Mol Cancer Res 13 (9), 1306-1315 (2015)
   PUBMED   26078295
REFERENCE   6  (residues 1 to 1584)
  AUTHORS   Wang Q, Zhai YY, Dai JH, Li KY, Deng Q and Han ZG.
  TITLE     SAMD9L inactivation promotes cell proliferation via facilitating
            G1-S transition in hepatitis B virus-associated hepatocellular
            carcinoma
  JOURNAL   Int J Biol Sci 10 (8), 807-816 (2014)
   PUBMED   25076857
  REMARK    GeneRIF: The findings highlight a novel tumor-suppressive role of
            SAMD9L inactivation by somatic mutation and decreased expression in
            human HBV-related HCC
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 1584)
  AUTHORS   Nagamachi A, Matsui H, Asou H, Ozaki Y, Aki D, Kanai A, Takubo K,
            Suda T, Nakamura T, Wolff L, Honda H and Inaba T.
  TITLE     Haploinsufficiency of SAMD9L, an endosome fusion facilitator,
            causes myeloid malignancies in mice mimicking human diseases with
            monosomy 7
  JOURNAL   Cancer Cell 24 (3), 305-317 (2013)
   PUBMED   24029230
REFERENCE   8  (residues 1 to 1584)
  AUTHORS   Lemos de Matos A, Liu J, McFadden G and Esteves PJ.
  TITLE     Evolution and divergence of the mammalian SAMD9/SAMD9L gene family
  JOURNAL   BMC Evol Biol 13, 121 (2013)
   PUBMED   23758988
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 1584)
  AUTHORS   Li CF, MacDonald JR, Wei RY, Ray J, Lau K, Kandel C, Koffman R,
            Bell S, Scherer SW and Alman BA.
  TITLE     Human sterile alpha motif domain 9, a novel gene identified as
            down-regulated in aggressive fibromatosis, is absent in the mouse
  JOURNAL   BMC Genomics 8, 92 (2007)
   PUBMED   17407603
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 1584)
  AUTHORS   Raskind,W.H., Chen,D.H. and Bird,T.
  TITLE     SAMD9L Ataxia-Pancytopenia Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   28570036
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC000119.1.
            
            Summary: This gene encodes a cytoplasmic protein that acts as a
            tumor suppressor but also plays a key role in cell proliferation
            and the innate immune response to viral infection. The encoded
            protein contains an N-terminal sterile alpha motif domain.
            Naturally occurring mutations in this gene are associated with
            myeloid disorders such as juvenile myelomonocytic leukemia, acute
            myeloid leukemia, and myelodysplastic syndrome. Naturally occurring
            mutations are also associated with hepatitis-B related
            hepatocellular carcinoma, normophosphatemic familial tumoral
            calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq,
            Apr 2017].
            
            Transcript Variant: This variant (9) uses an alternate splice site
            in the 5' UTR, compared to variant 1. Variants 1-9 encode the same
            protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1095686.1,
                                           SRR18074968.2863907.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1584
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.2"
     Protein         1..1584
                     /product="sterile alpha motif domain-containing protein
                     9-like"
                     /note="SAM domain-containing protein 9-like"
                     /calculated_mol_wt=184402
     Region          12..76
                     /region_name="SAM_Samd9_Samd9L"
                     /note="SAM domain of Samd9/Samd9L subfamily; cd09528"
                     /db_xref="CDD:188927"
     Region          76..122
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVG5.2)"
     CDS             1..1584
                     /gene="SAMD9L"
                     /gene_synonym="ATXPC; C7DELq; C7orf6; DEL7q; DRIF2;
                     M7MLS1; MLSM7; SCA49; UEF1"
                     /coded_by="NM_001350085.2:727..5481"
                     /db_xref="CCDS:CCDS34681.1"
                     /db_xref="GeneID:219285"
                     /db_xref="HGNC:HGNC:1349"
                     /db_xref="MIM:611170"
ORIGIN      
        1 mskqvslpem ikdwtkehvk kwvnedlkin eqygqillse evtglvlqel tekdlvemgl
       61 pwgpallikr synklnsksp esdnhdpgql dnskpskteh qknpkhtkke eensmssnid
      121 ydpreirdik qeesilmken vldevanakh kkkgklkpeq ltcmpypfdq fhdshryieh
      181 ytlqpetgal nlidpihefk altntetate vdikmkfsne vfrfasacmn srtngtihfg
      241 vkdkphgeiv gvkitskaaf idhfnvmikk yfeeseinea kkcireprfv evllqnntps
      301 drfvievdti pkhsicndky fyiqmqickd kiwkqnqnls lfvregassr dilanskqrd
      361 vdfkaflqnl kslvasrkea eeeygmkamk keseglklvk llignrdsld nsyydwyilv
      421 tnkchpnqik hldflkeikw favlefdpes mingvvkayk esrvanlhfp nqyedkttnm
      481 wekistlnly qqpswifcng rsdlksetyk plephlwqre rasevrklil fltdenimtr
      541 gkflvvflll ssvespgdpl ietfwafyqa lkgmenmlci svnshiyqrw kdllqtrmkm
      601 edeltnhsis tlnielvnst ilklksvtrs srrflpargs ssvilekkke dvltaleilc
      661 enectetdie kdkskflefk kskeehfyrg gkvswwnfyf ssenyssdfv krdsyeklkd
      721 lihcwaespk pifakiinly hhpgcggttl amhvlwdlkk nfrcavlknk ttdfaeiaeq
      781 vinlvtyrak shqdyipvll lvddfeeqen vyflqnaihs vlaekdlrye ktlviilncm
      841 rsrnpdesak ladsialnyq lsskeqrafg aklkeiekqh kncenfysfm imksnfdety
      901 ienvvrnilk gqdvdskeaq lisflallss yvtdstisvs qceiflgiiy tstpwepesl
      961 edkmgtystl liktevaeyg rytgvriihp lialyclkel ersyhldkcq ialnileenl
     1021 fydsgigrdk fqhdvqtlll trqrkvygde tdtlfsplme alqnkdiekv lsagsrrfpq
     1081 naficqalar hfyikekdfn taldwarqak mkapknsyis dtlgqvykse ikwwldgnkn
     1141 crsitvndlt hlleaaekas rafkesqrqt dsknyetenw spqksqrryd myntacflge
     1201 ievglytiqi lqltpffhke nelskkhmvq flsgkwtipp dprnecylal skftshlknl
     1261 qsdlkrcfdf fidymvllkm rytqkeiaei mlskkvsrcf rkytelfchl dpcllqskes
     1321 qllqeencrk klealradrf aglleylnpn ykdattmesi vneyafllqq nskkpmtnek
     1381 qnsilaniil sclkpnskli qplttlkkql revlqfvgls hqypgpyfla cllfwpenqe
     1441 ldqdskliek yvsslnrsfr gqykrmcrsk qastlfylgk rkglnsivhk akieqyfdka
     1501 qntnslwhsg dvwkknevkd llrrltgqae gklisveygt eekikipvis vysgplrsgr
     1561 niervsfylg fsiegplayd ievi
//
LOCUS       NP_000745                271 aa            linear   PRI 03-APR-2023
DEFINITION  catechol O-methyltransferase isoform MB-COMT [Homo sapiens].
ACCESSION   NP_000745
VERSION     NP_000745.1
DBSOURCE    REFSEQ: accession NM_000754.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 271)
  AUTHORS   Lu W, Ji H and Li Y.
  TITLE     Early life adversity and cardiovascular responses to repeated
            stress among adolescents: Moderating role of COMT gene rs4680
            polymorphism
  JOURNAL   Psychoneuroendocrinology 150, 106029 (2023)
   PUBMED   36702041
  REMARK    GeneRIF: Early life adversity and cardiovascular responses to
            repeated stress among adolescents: Moderating role of COMT gene
            rs4680 polymorphism.
REFERENCE   2  (residues 1 to 271)
  AUTHORS   Zhou Q, Yang L, Verne ML, Zhang BB, Fields J and Verne GN.
  TITLE     Catechol-O-Methyltransferase Loss Drives Cell-Specific Nociceptive
            Signaling via the Enteric
            Catechol-O-Methyltransferase/microRNA-155/Tumor Necrosis Factor
            alpha Axis
  JOURNAL   Gastroenterology 164 (4), 630-641 (2023)
   PUBMED   36623778
  REMARK    GeneRIF: Catechol-O-Methyltransferase Loss Drives Cell-Specific
            Nociceptive Signaling via the Enteric
            Catechol-O-Methyltransferase/microRNA-155/Tumor Necrosis Factor
            alpha Axis.
REFERENCE   3  (residues 1 to 271)
  AUTHORS   Gong J, Zhang T, Zhou L, Mo Y, Yu F, Liu M, Yang L and Liu J.
  TITLE     Gender divergent effect of COMT gene rs4680 polymorphism on the
            association between executive dysfunction and psychotic-like
            experiences
  JOURNAL   Behav Brain Res 439, 114215 (2023)
   PUBMED   36372244
  REMARK    GeneRIF: Gender divergent effect of COMT gene rs4680 polymorphism
            on the association between executive dysfunction and psychotic-like
            experiences.
REFERENCE   4  (residues 1 to 271)
  AUTHORS   Firfirey F, Shamley D and September AV.
  TITLE     Polymorphisms in COMT and OPRM1 Collectively Contribute to Chronic
            Shoulder Pain and Disability in South African Breast Cancer
            Survivors'
  JOURNAL   Genes (Basel) 14 (1), 9 (2022)
   PUBMED   36672750
  REMARK    GeneRIF: Polymorphisms in COMT and OPRM1 Collectively Contribute to
            Chronic Shoulder Pain and Disability in South African Breast Cancer
            Survivors'.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 271)
  AUTHORS   Parvez S, Fatima G, Mahdi F, Fedacko J and Hadi NR.
  TITLE     UNRAVELING THE CLINICO-GENETIC ASSOCIATION OF
            CATECHOL-O-METHYLTRANSFERASE-RS4680 G>A GENE POLYMORPHISM IN WOMEN
            WITH FIBROMYALGIA SYNDROME
  JOURNAL   Wiad Lek 75 (10), 2439-2444 (2022)
   PUBMED   36472276
  REMARK    GeneRIF: UNRAVELING THE CLINICO-GENETIC ASSOCIATION OF
            CATECHOL-O-METHYLTRANSFERASE-RS4680 G>A GENE POLYMORPHISM IN WOMEN
            WITH FIBROMYALGIA SYNDROME.
REFERENCE   6  (residues 1 to 271)
  AUTHORS   Grossman MH, Emanuel BS and Budarf ML.
  TITLE     Chromosomal mapping of the human catechol-O-methyltransferase gene
            to 22q11.1----q11.2
  JOURNAL   Genomics 12 (4), 822-825 (1992)
   PUBMED   1572656
REFERENCE   7  (residues 1 to 271)
  AUTHORS   Ulmanen I and Lundstrom K.
  TITLE     Cell-free synthesis of rat and human catechol O-methyltransferase.
            Insertion of the membrane-bound form into microsomal membranes in
            vitro
  JOURNAL   Eur J Biochem 202 (3), 1013-1020 (1991)
   PUBMED   1765063
REFERENCE   8  (residues 1 to 271)
  AUTHORS   Lundstrom K, Salminen M, Jalanko A, Savolainen R and Ulmanen I.
  TITLE     Cloning and characterization of human placental
            catechol-O-methyltransferase cDNA
  JOURNAL   DNA Cell Biol 10 (3), 181-189 (1991)
   PUBMED   1707278
REFERENCE   9  (residues 1 to 271)
  AUTHORS   Bertocci B, Miggiano V, Da Prada M, Dembic Z, Lahm HW and Malherbe
            P.
  TITLE     Human catechol-O-methyltransferase: cloning and expression of the
            membrane-associated form
  JOURNAL   Proc Natl Acad Sci U S A 88 (4), 1416-1420 (1991)
   PUBMED   1847521
REFERENCE   10 (residues 1 to 271)
  AUTHORS   Schultz E.
  TITLE     Catechol-O-methyltransferase and aromatic L-amino acid
            decarboxylase activities in human gastrointestinal tissues
  JOURNAL   Life Sci 49 (10), 721-725 (1991)
   PUBMED   1875781
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX461394.2, AK290440.1 and
            AC005663.2.
            
            Summary: Catechol-O-methyltransferase catalyzes the transfer of a
            methyl group from S-adenosylmethionine to catecholamines, including
            the neurotransmitters dopamine, epinephrine, and norepinephrine.
            This O-methylation results in one of the major degradative pathways
            of the catecholamine transmitters. In addition to its role in the
            metabolism of endogenous substances, COMT is important in the
            metabolism of catechol drugs used in the treatment of hypertension,
            asthma, and Parkinson disease. COMT is found in two forms in
            tissues, a soluble form (S-COMT) and a membrane-bound form
            (MB-COMT). The differences between S-COMT and MB-COMT reside within
            the N-termini. Several transcript variants are formed through the
            use of alternative translation initiation sites and promoters.
            [provided by RefSeq, Sep 2008].
            
            Transcript Variant: This variant (1, also known as MB-COMT)
            represents the predominant transcript and encodes the longer
            isoform (MB-COMT). Variants 1, 2, 3, and 5 all encode isoform
            MB-COMT and may also make the shorter isoform S-COMT at a low
            level. MB-COMT is a membrane-bound protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.817540.1,
                                           SRR14038192.1640489.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361682.11/ ENSP00000354511.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..271
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     Protein         1..271
                     /product="catechol O-methyltransferase isoform MB-COMT"
                     /EC_number="2.1.1.6"
                     /note="epididymis secretory sperm binding protein Li 98n;
                     testicular tissue protein Li 42"
                     /calculated_mol_wt=29906
     Site            7..26
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P21964.2)"
     Region          51..264
                     /region_name="YrrM"
                     /note="Predicted O-methyltransferase YrrM [General
                     function prediction only]; COG4122"
                     /db_xref="CDD:226607"
     Site            267
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P22734; propagated from
                     UniProtKB/Swiss-Prot (P21964.2)"
     CDS             1..271
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /coded_by="NM_000754.4:218..1033"
                     /note="isoform MB-COMT is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13770.1"
                     /db_xref="GeneID:1312"
                     /db_xref="HGNC:HGNC:2228"
                     /db_xref="MIM:116790"
ORIGIN      
        1 mpeappllla avllglvllv vlllllrhwg wglcligwne filqpihnll mgdtkeqril
       61 nhvlqhaepg naqsvleaid tyceqkewam nvgdkkgkiv daviqehqps vllelgaycg
      121 ysavrmarll spgarlitie inpdcaaitq rmvdfagvkd kvtlvvgasq diipqlkkky
      181 dvdtldmvfl dhwkdrylpd tllleecgll rkgtvlladn vicpgapdfl ahvrgsscfe
      241 cthyqsfley revvdgleka iykgpgseag p
//
LOCUS       NP_000492                724 aa            linear   PRI 17-APR-2023
DEFINITION  elastin isoform a precursor [Homo sapiens].
ACCESSION   NP_000492
VERSION     NP_000492.2
DBSOURCE    REFSEQ: accession NM_000501.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 724)
  AUTHORS   Krarup NT, Hvidbjerg M, Zaremba T, Sommerlund M and Christensen MK.
  TITLE     Autosomal dominant cutis laxa and critical stenosis of the left
            main coronary artery in a 21-year-old female with an intronic
            mutation in the elastin gene
  JOURNAL   Am J Med Genet A 191 (4), 1059-1064 (2023)
   PUBMED   36541930
  REMARK    GeneRIF: Autosomal dominant cutis laxa and critical stenosis of the
            left main coronary artery in a 21-year-old female with an intronic
            mutation in the elastin gene.
REFERENCE   2  (residues 1 to 724)
  AUTHORS   Trebacz H and Barzycka A.
  TITLE     Mechanical Properties and Functions of Elastin: An Overview
  JOURNAL   Biomolecules 13 (3), 574 (2023)
   PUBMED   36979509
  REMARK    GeneRIF: Mechanical Properties and Functions of Elastin: An
            Overview.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 724)
  AUTHORS   Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M and
            Read AP.
  TITLE     Elastin: genomic structure and point mutations in patients with
            supravalvular aortic stenosis
  JOURNAL   Hum Mol Genet 6 (7), 1029-1036 (1997)
   PUBMED   9215671
REFERENCE   4  (residues 1 to 724)
  AUTHORS   Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF and Keating
            MT.
  TITLE     The elastin gene is disrupted by a translocation associated with
            supravalvular aortic stenosis
  JOURNAL   Cell 73 (1), 159-168 (1993)
   PUBMED   8096434
REFERENCE   5  (residues 1 to 724)
  AUTHORS   Callewaert,B.L. and Urban,Z.
  TITLE     ELN-Related Cutis Laxa
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36173875
REFERENCE   6  (residues 1 to 724)
  AUTHORS   Morris,C.A.
  TITLE     Williams Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301427
REFERENCE   7  (residues 1 to 724)
  AUTHORS   Wakui H, Komatsuda A, Itoh H, Kobayashi R, Nakamoto Y and Miura AB.
  TITLE     Renal argininosuccinate synthetase: purification,
            immunohistochemical localization, and elastin-binding property
  JOURNAL   Ren Physiol Biochem 15 (1), 1-9 (1992)
   PUBMED   1372742
REFERENCE   8  (residues 1 to 724)
  AUTHORS   Fazio MJ, Mattei MG, Passage E, Chu ML, Black D, Solomon E,
            Davidson JM and Uitto J.
  TITLE     Human elastin gene: new evidence for localization to the long arm
            of chromosome 7
  JOURNAL   Am J Hum Genet 48 (4), 696-703 (1991)
   PUBMED   2014796
REFERENCE   9  (residues 1 to 724)
  AUTHORS   Fazio MJ, Olsen DR, Kauh EA, Baldwin CT, Indik Z,
            Ornstein-Goldstein N, Yeh H, Rosenbloom J and Uitto J.
  TITLE     Cloning of full-length elastin cDNAs from a human skin fibroblast
            recombinant cDNA library: further elucidation of alternative
            splicing utilizing exon-specific oligonucleotides
  JOURNAL   J Invest Dermatol 91 (5), 458-464 (1988)
   PUBMED   3171221
REFERENCE   10 (residues 1 to 724)
  AUTHORS   Indik,Z., Yoon,K., Morrow,S.D., Cicila,G., Rosenbloom,J.,
            Rosenbloom,J. and Ornstein-Goldstein,N.
  TITLE     Structure of the 3' region of the human elastin gene: great
            abundance of Alu repetitive sequences and few coding sequences
  JOURNAL   Connect Tissue Res 16 (3), 197-211 (1987)
   PUBMED   3038460
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005056.2, BC035570.1 and
            AA600350.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 28, 2007 this sequence version replaced NP_000492.1.
            
            Summary: This gene encodes a protein that is one of the two
            components of elastic fibers. Elastic fibers comprise part of the
            extracellular matrix and confer elasticity to organs and tissues
            including the heart, skin, lungs, ligaments, and blood vessels. The
            encoded protein is rich in hydrophobic amino acids such as glycine
            and proline, which form mobile hydrophobic regions bounded by
            crosslinks between lysine residues. Degradation products of the
            encoded protein, known as elastin-derived peptides or elastokines,
            bind the elastin receptor complex and other receptors and stimulate
            migration and proliferation of monocytes and skin fibroblasts.
            Elastokines can also contribute to cancer progression. Deletions
            and mutations in this gene are associated with supravalvular aortic
            stenosis (SVAS) and autosomal dominant cutis laxa. [provided by
            RefSeq, Aug 2017].
            
            Transcript Variant: This variant (1) encodes isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC035570.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252034.12/ ENSP00000252034.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..724
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     Protein         1..724
                     /product="elastin isoform a precursor"
                     /note="tropoelastin"
                     /calculated_mol_wt=59987
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2665
     Site            34
                     /site_type="hydroxylation"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            65
                     /site_type="hydroxylation"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            67
                     /site_type="hydroxylation"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            88
                     /site_type="hydroxylation"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            116
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            156
                     /site_type="hydroxylation"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            167
                     /site_type="hydroxylation"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            170
                     /site_type="hydroxylation"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            177
                     /site_type="hydroxylation"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            190
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697,
                     ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            283
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            286
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697,
                     ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            290
                     /site_type="hydroxylation"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            327
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            342
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            347
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            352
                     /site_type="hydroxylation"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            355
                     /site_type="hydroxylation"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     Site            360
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4)"
     CDS             1..724
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /coded_by="NM_000501.4:16..2190"
                     /note="isoform a precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS5562.2"
                     /db_xref="GeneID:2006"
                     /db_xref="HGNC:HGNC:3327"
                     /db_xref="MIM:130160"
ORIGIN      
        1 magltaaapr pgvlllllsi lhpsrpggvp gaipggvpgg vfypgaglga lgggalgpgg
       61 kplkpvpggl agaglgaglg afpavtfpga lvpggvadaa aaykaakaga glggvpgvgg
      121 lgvsagavvp qpgagvkpgk vpgvglpgvy pggvlpgarf pgvgvlpgvp tgagvkpkap
      181 gvggafagip gvgpfggpqp gvplgypika pklpggyglp yttgklpygy gpggvagaag
      241 kagyptgtgv gpqaaaaaaa kaaakfgaga agvlpgvgga gvpgvpgaip giggiagvgt
      301 paaaaaaaaa akaakygaaa glvpggpgfg pgvvgvpgag vpgvgvpgag ipvvpgagip
      361 gaavpgvvsp eaaakaaaka akygarpgvg vggiptygvg aggfpgfgvg vggipgvagv
      421 pgvggvpgvg gvpgvgispe aqaaaaakaa kygvgtpaaa aakaaakaaq fglvpgvgva
      481 pgvgvapgvg vapgvglapg vgvapgvgva pgvgvapgig pggvaaaaks aakvaakaql
      541 raaaglgagi pglgvgvgvp glgvgagvpg lgvgagvpgf gavpgalaaa kaakygaavp
      601 gvlgglgalg gvgipggvvg agpaaaaaaa kaaakaaqfg lvgaaglggl gvgglgvpgv
      661 gglggippaa aakaakygaa glggvlggag qfplggvaar pgfglspifp ggaclgkacg
      721 rkrk
//
LOCUS       NP_001139654             517 aa            linear   PRI 20-DEC-2021
DEFINITION  keratin-associated protein 16-1 [Homo sapiens].
ACCESSION   NP_001139654 XP_001719387 XP_001723410 XP_002343557
VERSION     NP_001139654.1
DBSOURCE    REFSEQ: accession NM_001146182.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 517)
  AUTHORS   Rogers MA, Langbein L, Winter H, Ehmann C, Praetzel S, Korn B and
            Schweizer J.
  TITLE     Characterization of a cluster of human high/ultrahigh sulfur
            keratin-associated protein genes embedded in the type I keratin
            gene domain on chromosome 17q12-21
  JOURNAL   J Biol Chem 276 (22), 19440-19451 (2001)
   PUBMED   11279113
COMMENT     INFERRED REFSEQ: This record is predicted by genome sequence
            analysis and is not yet supported by experimental evidence. The
            reference sequence was derived from AC003958.3.
            On or before Aug 26, 2010 this sequence version replaced
            XP_002343557.1, XP_001719387.1, XP_001723410.1.
            
            Sequence Note:.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000391352.2/ ENSP00000375147.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..517
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     Protein         1..517
                     /product="keratin-associated protein 16-1"
                     /note="putative keratin-associated protein 10-like
                     ENSP00000375147"
                     /calculated_mol_wt=53781
     Region          4..148
                     /region_name="PMG"
                     /note="PMG protein; pfam05287"
                     /db_xref="CDD:283053"
     Region          73..307
                     /region_name="11 X 5 AA repeats of C-C-X(3)"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MUX0.1)"
     Region          83..241
                     /region_name="Keratin_B2"
                     /note="Keratin, high sulfur B2 protein; pfam01500"
                     /db_xref="CDD:366678"
     Region          186..333
                     /region_name="Keratin_B2"
                     /note="Keratin, high sulfur B2 protein; pfam01500"
                     /db_xref="CDD:366678"
     Region          483..517
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MUX0.1)"
     CDS             1..517
                     /gene="KRTAP16-1"
                     /gene_synonym="KAP16.1"
                     /coded_by="NM_001146182.2:57..1610"
                     /db_xref="CCDS:CCDS56032.1"
                     /db_xref="GeneID:100505753"
                     /db_xref="HGNC:HGNC:18916"
ORIGIN      
        1 msgscssrkc fsvpatslcs tevscggpic lpsscqsqtw qlvtcqdscg ssscgpqcrq
       61 pscpvsscaq plccdpvice pscsvssgcq pvcceattce pscsvsncyq pvcfeatice
      121 pscsvsnccq pvcfeatvce pscsvsscaq pvccepaice pscsvssccq pvgseatscq
      181 pvlcvptscq pvlckssccq pvvcepsccs avctlpsscq pvvcepsccq pvcptptcsv
      241 tsscqavccd pspcepscse ssicqpatcv alvcepvclr pvccvqssce ppsvpstcqe
      301 psccvssicq picsepspcs pavcvsspcq ptcyvvkrcp svcpepvscp stscrplscs
      361 pgssasaicr ptcprtfyip ssskrpcsat isyrpvsrpi crpicsgllt yrqpymtsis
      421 yrpacyrpcy silrrpacvt syscrpvyfr psctesdsck rdckkstssq ldcvdttpck
      481 vdvseeapcq pteakpispt treaaaaqpa askpanc
//
LOCUS       NP_001308320             410 aa            linear   PRI 18-DEC-2022
DEFINITION  protein CNPPD1 [Homo sapiens].
ACCESSION   NP_001308320 XP_006712482
VERSION     NP_001308320.2
DBSOURCE    REFSEQ: accession NM_001321391.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 410)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (residues 1 to 410)
  AUTHORS   Lamesch P, Li N, Milstein S, Fan C, Hao T, Szabo G, Hu Z,
            Venkatesan K, Bethel G, Martin P, Rogers J, Lawlor S, McLaren S,
            Dricot A, Borick H, Cusick ME, Vandenhaute J, Dunham I, Hill DE and
            Vidal M.
  TITLE     hORFeome v3.1: a resource of human open reading frames representing
            over 10,000 human genes
  JOURNAL   Genomics 89 (3), 307-315 (2007)
   PUBMED   17207965
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC068946.4.
            On Jun 1, 2019 this sequence version replaced NP_001308320.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.849559.1,
                                           SRR1803616.323565.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..410
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     Protein         1..410
                     /product="protein CNPPD1"
                     /note="cyclin Pas1/PHO80 domain-containing protein 1"
                     /calculated_mol_wt=45325
     Region          79..172
                     /region_name="CYCLIN_ScPCL1-like"
                     /note="cyclin box found in Saccharomyces cerevisiae
                     G1/S-specific cyclin PCL1, PCL2 and similar proteins;
                     cd20557"
                     /db_xref="CDD:410260"
     Site            order(94,132,144..146,160,163..164)
                     /site_type="other"
                     /note="putative CDK interface [polypeptide binding]"
                     /db_xref="CDD:410260"
     Site            233..253
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BV87.2)"
     CDS             1..410
                     /gene="CNPPD1"
                     /gene_synonym="C2orf24; CGI-57"
                     /coded_by="NM_001321391.2:91..1323"
                     /db_xref="CCDS:CCDS2433.1"
                     /db_xref="GeneID:27013"
                     /db_xref="HGNC:HGNC:25220"
ORIGIN      
        1 mdltglllde egtfslagfq dftflpghqk lsarirrrly ygwdweadcs leelsspvad
       61 iavellqkaa pspirrlqkk yvahvsreac ispcammlal vyierlrhrn pdylqhvsss
      121 dlflismmva skylydegee eevfndewga aggvavptln alergflsam dwhlytdpre
      181 ifevlswles cvaeqqgrwr gwytytdlcv lleqptwqla lgslcqrlvk lscllavayv
      241 ssvalavasv avihqslgls ciptpgppdl gltsrcllep cipsvpqclp slanvsscle
      301 gsmglrslwg sllasltppp lpppdppapp tllhnchlcq klqrdsptch aclhpnrtvp
      361 talsspwyht yglappwpws pvllslpqpq qcslfsvmel arlksfvfpg
//
LOCUS       NP_001276001             708 aa            linear   PRI 18-DEC-2022
DEFINITION  lymphoid-specific helicase isoform 7 [Homo sapiens].
ACCESSION   NP_001276001
VERSION     NP_001276001.1
DBSOURCE    REFSEQ: accession NM_001289072.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 708)
  AUTHORS   Peixoto E, Khan A, Lewis ZA, Contreras-Galindo R and Czaja W.
  TITLE     The Chromatin Remodeler HELLS: A New Regulator in DNA Repair,
            Genome Maintenance, and Cancer
  JOURNAL   Int J Mol Sci 23 (16), 9313 (2022)
   PUBMED   36012581
  REMARK    GeneRIF: The Chromatin Remodeler HELLS: A New Regulator in DNA
            Repair, Genome Maintenance, and Cancer.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 708)
  AUTHORS   Liang X, Li L and Fan Y.
  TITLE     Diagnostic, Prognostic, and Immunological Roles of HELLS in
            Pan-Cancer: A Bioinformatics Analysis
  JOURNAL   Front Immunol 13, 870726 (2022)
   PUBMED   35774795
  REMARK    GeneRIF: Diagnostic, Prognostic, and Immunological Roles of HELLS
            in Pan-Cancer: A Bioinformatics Analysis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 708)
  AUTHORS   He C and Liu L.
  TITLE     Hsa_circ_0072008 regulates cell proliferation, migration, and
            invasion in cervical squamous cell carcinoma via miR-1305/helicase,
            lymphoid specific (HELLS) axis
  JOURNAL   Bioengineered 13 (4), 8311-8322 (2022)
   PUBMED   35311456
  REMARK    GeneRIF: Hsa_circ_0072008 regulates cell proliferation, migration,
            and invasion in cervical squamous cell carcinoma via
            miR-1305/helicase, lymphoid specific (HELLS) axis.
REFERENCE   4  (residues 1 to 708)
  AUTHORS   Chen X, Li Y, Rubio K, Deng B, Li Y, Tang Q, Mao C, Liu S, Xiao D,
            Barreto G and Tao Y.
  TITLE     Lymphoid-specific helicase in epigenetics, DNA repair and cancer
  JOURNAL   Br J Cancer 126 (2), 165-173 (2022)
   PUBMED   34493821
  REMARK    GeneRIF: Lymphoid-specific helicase in epigenetics, DNA repair and
            cancer.
            Review article
REFERENCE   5  (residues 1 to 708)
  AUTHORS   Tameni A, Sauta E, Mularoni V, Torricelli F, Manzotti G, Inghirami
            G, Bellazzi R, Fragliasso V and Ciarrocchi A.
  TITLE     The DNA-helicase HELLS drives ALK- ALCL proliferation by the
            transcriptional control of a cytokinesis-related program
  JOURNAL   Cell Death Dis 12 (1), 130 (2021)
   PUBMED   33504766
  REMARK    GeneRIF: The DNA-helicase HELLS drives ALK(-) ALCL proliferation by
            the transcriptional control of a cytokinesis-related program.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 708)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD,
            Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird
            G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson
            T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan
            S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou
            T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore
            N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J,
            Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead
            SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T,
            Doucette-Stamm L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   7  (residues 1 to 708)
  AUTHORS   Sun LQ, Lee DW, Zhang Q, Xiao W, Raabe EH, Meeker A, Miao D, Huso
            DL and Arceci RJ.
  TITLE     Growth retardation and premature aging phenotypes in mice with
            disruption of the SNF2-like gene, PASG
  JOURNAL   Genes Dev 18 (9), 1035-1046 (2004)
   PUBMED   15105378
REFERENCE   8  (residues 1 to 708)
  AUTHORS   Ohira M, Morohashi A, Nakamura Y, Isogai E, Furuya K, Hamano S,
            Machida T, Aoyama M, Fukumura M, Miyazaki K, Suzuki Y, Sugano S,
            Hirato J and Nakagawara A.
  TITLE     Neuroblastoma oligo-capping cDNA project: toward the understanding
            of the genesis and biology of neuroblastoma
  JOURNAL   Cancer Lett 197 (1-2), 63-68 (2003)
   PUBMED   12880961
  REMARK    Review article
REFERENCE   9  (residues 1 to 708)
  AUTHORS   Lee DW, Zhang K, Ning ZQ, Raabe EH, Tintner S, Wieland R, Wilkins
            BJ, Kim JM, Blough RI and Arceci RJ.
  TITLE     Proliferation-associated SNF2-like gene (PASG): a SNF2 family
            member altered in leukemia
  JOURNAL   Cancer Res 60 (13), 3612-3622 (2000)
   PUBMED   10910076
REFERENCE   10 (residues 1 to 708)
  AUTHORS   Geiman TM, Durum SK and Muegge K.
  TITLE     Characterization of gene expression, genomic structure, and
            chromosomal localization of Hells (Lsh)
  JOURNAL   Genomics 54 (3), 477-483 (1998)
   PUBMED   9878251
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC423372.1, BC105606.1,
            AB102719.1, BC111789.1 and BC015477.1.
            
            Summary: This gene encodes a lymphoid-specific helicase. Other
            helicases function in processes involving DNA strand separation,
            including replication, repair, recombination, and transcription.
            This protein is thought to be involved with cellular proliferation
            and may play a role in leukemogenesis. Alternatively spliced
            transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jan 2014].
            
            Transcript Variant: This variant (7) uses an alternate in-frame
            splice site and lacks two alternate in-frame exons compared to
            variant 1. The encoded protein (isoform 7) is shorter compared to
            isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB102719.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMN03267750,
                                           SAMN03267752 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..708
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.33"
     Protein         1..708
                     /product="lymphoid-specific helicase isoform 7"
                     /note="SWI/SNF2-related, matrix-associated,
                     actin-dependent regulator of chromatin, subfamily A,
                     member 6; proliferation-associated SNF2-like protein"
                     /calculated_mol_wt=81506
     Region          94..135
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRZ9.1)"
     Site            115
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NRZ9.1)"
     Region          221..>693
                     /region_name="PLN03142"
                     /note="Probable chromatin-remodeling complex ATPase chain;
                     Provisional"
                     /db_xref="CDD:215601"
     CDS             1..708
                     /gene="HELLS"
                     /gene_synonym="ICF4; LSH; Nbla10143; PASG; SMARCA6"
                     /coded_by="NM_001289072.2:135..2261"
                     /note="isoform 7 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS91307.1"
                     /db_xref="GeneID:3070"
                     /db_xref="HGNC:HGNC:4861"
                     /db_xref="MIM:603946"
ORIGIN      
        1 mpaerpagsg gseapamveq ldtavitpam leeeeqleaa glererkmle karmswdres
       61 teiryrrlqh lleksniysk flltkmeqqq leeqkkkekl erkkeslkvk kgknsidase
      121 ekpvmrkkrg redesynise vmskeeilsv akknkkened enssstnlcv edlqknkdsn
      181 siikdrlset vrqntkfffd pvrkcngqpv pfqqpkhftg gvmrwyqveg mewlrmlwen
      241 gingiladem glgktvqcia tialmiqrgv pgpflvcgpl stlpnwmaef krftpdiptm
      301 lyhgtqeerq kliltpfllr rlksdvalev ppkrevvvya plskkqeify taivnrtian
      361 mfgsseketi elsptgrpkr rtrksinysk iddfpnelek lisqiqpevd reravvevni
      421 pvesevnlkl qnimmllrkc cnhpylieyp idpvtqefki deelvtnsgk flildrmlpe
      481 lkkrghkvll fsqmtsmldi lmdychlrdf nfsrldgsms ysereknmhs fntdpevfif
      541 lvstragglg inltaadtvi iydsdwnpqs dlqaqdrchr igqtkpvvvy rlvtantidq
      601 kiveraaakr klekliihkn hfkggqsgln lsknfldpke lmellksrdy ereikgsrek
      661 visdkdlell ldrsdlidqm nasgpikekm gifkilense dsspeclf
//
LOCUS       NP_001337827             835 aa            linear   PRI 18-DEC-2022
DEFINITION  gamma-secretase-activating protein isoform d [Homo sapiens].
ACCESSION   NP_001337827
VERSION     NP_001337827.1
DBSOURCE    REFSEQ: accession NM_001350898.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 835)
  AUTHORS   Xu P, Chang JC, Zhou X, Wang W, Bamkole M, Wong E, Bettayeb K,
            Jiang LL, Huang T, Luo W, Xu H, Nairn AC, Flajolet M, Ip NY, Li YM
            and Greengard P.
  TITLE     GSAP regulates lipid homeostasis and mitochondrial function
            associated with Alzheimer's disease
  JOURNAL   J Exp Med 218 (8) (2021)
   PUBMED   34156424
  REMARK    GeneRIF: GSAP regulates lipid homeostasis and mitochondrial
            function associated with Alzheimer's disease.
REFERENCE   2  (residues 1 to 835)
  AUTHORS   Perez SE, Nadeem M, Malek-Ahmadi MH, He B and Mufson EJ.
  TITLE     Frontal Cortex and Hippocampal gamma-Secretase Activating Protein
            Levels in Prodromal Alzheimer Disease
  JOURNAL   Neurodegener Dis 17 (6), 235-241 (2017)
   PUBMED   28743126
  REMARK    GeneRIF: These data demonstrate that GSAP proteins are
            differentially dysregulated in severe Alzheimer Disease, but only
            the full-length form was associated with cognitive test scores in
            Alzheimer Disease.
REFERENCE   3  (residues 1 to 835)
  AUTHORS   Chu J, Li JG, Hoffman NE, Stough AM, Madesh M and Pratico D.
  TITLE     Regulation of gamma-secretase activating protein by the
            5Lipoxygenase: in vitro and in vivo evidence
  JOURNAL   Sci Rep 5, 11086 (2015)
   PUBMED   26076991
  REMARK    GeneRIF: GSAP cleavage via caspase-3 is regulated and depend upon
            the availability of 5-Lipoxygenase in Alzheimer's disease.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 835)
  AUTHORS   Zhu M, Tao Y, He Q, Gao H, Song F, Sun YM, Li HL, Wu ZY and Saffen
            D.
  TITLE     Common GSAP promoter variant contributes to Alzheimer's disease
            liability
  JOURNAL   Neurobiol Aging 35 (11), 2656 (2014)
   PUBMED   25037285
  REMARK    GeneRIF: Its promoter variant contributes to Alzheimer's disease
            liability.
REFERENCE   5  (residues 1 to 835)
  AUTHORS   Hussain I, Fabregue J, Anderes L, Ousson S, Borlat F, Eligert V,
            Berger S, Dimitrov M, Alattia JR, Fraering PC and Beher D.
  TITLE     The role of gamma-secretase activating protein (GSAP) and imatinib
            in the regulation of gamma-secretase activity and amyloid-beta
            generation
  JOURNAL   J Biol Chem 288 (4), 2521-2531 (2013)
   PUBMED   23209290
  REMARK    GeneRIF: gamma-secretase activating protein (GSAP) and imatinib
            have roles in the regulation of gamma-secretase activity and
            amyloid-beta generation
REFERENCE   6  (residues 1 to 835)
  AUTHORS   Deatherage CL, Hadziselimovic A and Sanders CR.
  TITLE     Purification and characterization of the human gamma-secretase
            activating protein
  JOURNAL   Biochemistry 51 (25), 5153-5159 (2012)
   PUBMED   22681044
  REMARK    GeneRIF: Protocols for recombinant bacterial expression and
            purification of potentially important protein GSAP are not
            successful in generating soluble forms of GSAP that contain
            well-ordered and homogeneous tertiary structure.
REFERENCE   7  (residues 1 to 835)
  AUTHORS   Satoh J, Tabunoki H, Ishida T, Saito Y and Arima K.
  TITLE     Immunohistochemical characterization of gamma-secretase activating
            protein expression in Alzheimer's disease brains
  JOURNAL   Neuropathol Appl Neurobiol 38 (2), 132-141 (2012)
   PUBMED   21718343
  REMARK    GeneRIF: Aberrant regulation of gamma-secretase activating protein
            expression plays a key role in acceleration of gamma-cleavage of
            beta-secretase-cleaved C-terminal fragment of amyloid precursor
            protein and accumulation of Abeta in AD brains
REFERENCE   8  (residues 1 to 835)
  AUTHORS   He G, Luo W, Li P, Remmers C, Netzer WJ, Hendrick J, Bettayeb K,
            Flajolet M, Gorelick F, Wennogle LP and Greengard P.
  TITLE     Gamma-secretase activating protein is a therapeutic target for
            Alzheimer's disease
  JOURNAL   Nature 467 (7311), 95-98 (2010)
   PUBMED   20811458
  REMARK    GeneRIF: A gamma-secretase activating protein (GSAP) that
            selectively increases amyloid-beta production via interactions with
            both gamma-secretase and its substrate, the amyloid precursor
            protein carboxy-terminal fragment.
REFERENCE   9  (residues 1 to 835)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004921.2 and AC073635.8.
            
            Summary: Accumulation of neurotoxic amyloid-beta is a major
            hallmark of Alzheimer disease (AD; MIM 104300). Formation of
            amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM
            104311), a protease with numerous substrates. PION, or GSAP,
            selectively increases amyloid-beta production through a mechanism
            involving its interaction with both gamma-secretase and its
            substrate, the amyloid-beta precursor protein (APP; MIM 104760)
            C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed
            20811458]).[supplied by OMIM, Nov 2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.220374.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..835
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     Protein         1..835
                     /product="gamma-secretase-activating protein isoform d"
                     /note="protein pigeon homolog"
                     /calculated_mol_wt=95488
     Region          3..478
                     /region_name="GSAP"
                     /note="gamma-secretase-activating protein and similar
                     proteins; cd23105"
                     /db_xref="CDD:438516"
     Region          623..730
                     /region_name="GSAP-16"
                     /note="gamma-Secretase-activating protein C-term;
                     pfam14959"
                     /db_xref="CDD:434348"
     CDS             1..835
                     /gene="GSAP"
                     /gene_synonym="PION"
                     /coded_by="NM_001350898.2:29..2536"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="GeneID:54103"
                     /db_xref="HGNC:HGNC:28042"
                     /db_xref="MIM:613552"
ORIGIN      
        1 malrlvadfd lgkdvlpwlr aqravseasg agsggadvle ndyeslhvln verngniiyt
       61 ykllytfekd lqvfscsvns ertllaaslv qstkegkrne lqpgskcltl lveihpvnnv
      121 kvlkavdsyi wvqflyphie shplpenhll liseekyieq frihvaqedg nrvviknsgh
      181 lprdriaedf vwaqwdmseq rlyyidlkks rsilkciqfy adesynlmfe vpldislsns
      241 gfklvnfgcd yhqyrdkfsk hltlcvftnh tgslcvcysp kcaswgqity svfyihkghs
      301 ktfttslenv gshmtkgitf lnldyyvavy lpghffhlln vqhpdlichn lfltgnnemi
      361 dmlphcplqs lsgslvldcc sgklyralls qssllqllqn tcldcekmaa lhcalycgqg
      421 aqfleaqiiq wisenvsach sfdliqefii assywsvyse tsnmdkllph ssvltwntei
      481 pgitlvtedi alplmkvlsf kgyweklnsn leyvkyakph fhynnsvvrr ewhnliseek
      541 tgkrrsaayv rnildnavkv isnlearnlg prltpllqee dshqrllmgl mvselkdhfl
      601 rhlqgvekkk ieqmvldyis klldlichiv etnwrkhnlh swvlhfnsrg saaefavfhi
      661 mtrileatns lflplppgfh tlhtilgvqc lplhnllhci dsgvllltet avirlmkdld
      721 ntekneklkf siivrlppli gqkicrlwdh pmssniisrn hvtrllqnyk kqprnsmink
      781 ssfsveflpl nyfieiltdi essnqalypf eghdnvdaef veeaalkhta mllgl
//
LOCUS       NP_001034658             154 aa            linear   PRI 18-DEC-2022
DEFINITION  AP-1 complex subunit sigma-3 [Homo sapiens].
ACCESSION   NP_001034658
VERSION     NP_001034658.1
DBSOURCE    REFSEQ: accession NM_001039569.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 154)
  AUTHORS   Ye T, Cheng Y and Li C.
  TITLE     Adaptor Protein Complex 1 Sigma 3 Is Highly Expressed in Glioma and
            Could Enhance Its Progression
  JOURNAL   Comput Math Methods Med 2021, 5086236 (2021)
   PUBMED   34367317
  REMARK    GeneRIF: Adaptor Protein Complex 1 Sigma 3 Is Highly Expressed in
            Glioma and Could Enhance Its Progression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 154)
  AUTHORS   Mahil SK, Twelves S, Farkas K, Setta-Kaffetzi N, Burden AD, Gach
            JE, Irvine AD, Kepiro L, Mockenhaupt M, Oon HH, Pinner J, Ranki A,
            Seyger MMB, Soler-Palacin P, Storan ER, Tan ES, Valeyrie-Allanore
            L, Young HS, Trembath RC, Choon SE, Szell M, Bata-Csorgo Z, Smith
            CH, Di Meglio P, Barker JN and Capon F.
  TITLE     AP1S3 Mutations Cause Skin Autoinflammation by Disrupting
            Keratinocyte Autophagy and Up-Regulating IL-36 Production
  JOURNAL   J Invest Dermatol 136 (11), 2251-2259 (2016)
   PUBMED   27388993
REFERENCE   3  (residues 1 to 154)
  AUTHORS   Li X, Niu Y, Cheng M, Chi X, Liu X and Yang W.
  TITLE     AP1S3 is required for hepatitis C virus infection by stabilizing E2
            protein
  JOURNAL   Antiviral Res 131, 26-34 (2016)
   PUBMED   27079945
  REMARK    GeneRIF: study demonstrated that AP1S3 interacts with hepatitis C
            virus E2 and protects it from proteasome-dependent degradation
REFERENCE   4  (residues 1 to 154)
  AUTHORS   Setta-Kaffetzi N, Simpson MA, Navarini AA, Patel VM, Lu HC, Allen
            MH, Duckworth M, Bachelez H, Burden AD, Choon SE, Griffiths CE,
            Kirby B, Kolios A, Seyger MM, Prins C, Smahi A, Trembath RC,
            Fraternali F, Smith CH, Barker JN and Capon F.
  TITLE     AP1S3 mutations are associated with pustular psoriasis and impaired
            Toll-like receptor 3 trafficking
  JOURNAL   Am J Hum Genet 94 (5), 790-797 (2014)
   PUBMED   24791904
  REMARK    GeneRIF: AP1S3 silencing disrupted the endosomal translocation of
            the innate pattern-recognition receptor TLR-3 (Toll-like receptor
            3) and resulted in a marked inhibition of downstream signaling.
REFERENCE   5  (residues 1 to 154)
  AUTHORS   Kim YA, Choi HJ, Lee JY, Han BG, Shin CS and Cho NH.
  TITLE     Replication of Caucasian loci associated with bone mineral density
            in Koreans
  JOURNAL   Osteoporos Int 24 (10), 2603-2610 (2013)
   PUBMED   23575750
REFERENCE   6  (residues 1 to 154)
  AUTHORS   Hirst J, Lindsay MR and Robinson MS.
  TITLE     GGAs: roles of the different domains and comparison with AP-1 and
            clathrin
  JOURNAL   Mol Biol Cell 12 (11), 3573-3588 (2001)
   PUBMED   11694590
REFERENCE   7  (residues 1 to 154)
  AUTHORS   Boehm M and Bonifacino JS.
  TITLE     Adaptins: the final recount
  JOURNAL   Mol Biol Cell 12 (10), 2907-2920 (2001)
   PUBMED   11598180
REFERENCE   8  (residues 1 to 154)
  AUTHORS   Kirchhausen T.
  TITLE     Three ways to make a vesicle
  JOURNAL   Nat Rev Mol Cell Biol 1 (3), 187-198 (2000)
   PUBMED   11252894
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol 2001 Mar;2(3):216]
REFERENCE   9  (residues 1 to 154)
  AUTHORS   Lippincott-Schwartz J, Roberts TH and Hirschberg K.
  TITLE     Secretory protein trafficking and organelle dynamics in living
            cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
REFERENCE   10 (residues 1 to 154)
  AUTHORS   Kirchhausen T, Davis AC, Frucht S, Greco BO, Payne GS and Tubb B.
  TITLE     AP17 and AP19, the mammalian small chains of the
            clathrin-associated protein complexes show homology to Yap17p,
            their putative homolog in yeast
  JOURNAL   J Biol Chem 266 (17), 11153-11157 (1991)
   PUBMED   2040623
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG177582.1, BG340480.1,
            AC093884.4 and BE856458.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            SUMMARY: This gene encodes a member of the adaptor-related protein
            complex 1, sigma subunit genes. The encoded protein is a component
            of adaptor protein complex 1 (AP-1), one of the AP complexes
            involved in claathrin-mediated vesicular transport from the Golgi
            or endosomes. Disruption of the pathway for display of HIV-1
            antigens, which prevents recognition of the virus by cytotoxic T
            cells, has been shown to involve the AP-1 complex (PMID: 15569716).
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (1) encodes the functional
            protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK299026.1, SRR1163657.8576.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2156266 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396654.7/ ENSP00000379891.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..154
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q36.1"
     Protein         1..154
                     /product="AP-1 complex subunit sigma-3"
                     /note="sigma 1C subunit of AP-1 clathrin; adaptor protein
                     complex AP-1 sigma-1C subunit; golgi adaptor HA1/AP1
                     adaptin sigma-1C subunit; clathrin assembly protein
                     complex 1 sigma-1C small chain; adaptor related protein
                     complex 1 sigma 3 subunit; adapter-related protein complex
                     1 subunit sigma-1C; adaptor-related protein complex 1
                     subunit sigma-1C"
                     /calculated_mol_wt=18345
     Region          3..143
                     /region_name="AP1_sigma"
                     /note="AP-1 complex subunit sigma; cd14831"
                     /db_xref="CDD:341435"
     Site            order(9..10,15,62..65,88..89,92,97..101)
                     /site_type="other"
                     /note="dileucine motif interface [polypeptide binding]"
                     /db_xref="CDD:341435"
     Site            order(14..17,19..20,45..49,75..79,81..83,86,97,104..107,
                     111..112,115..116,119..126,128..130,137..139,141..142)
                     /site_type="other"
                     /note="AP-1 gamma interface [polypeptide binding]"
                     /db_xref="CDD:341435"
     Site            order(26,30,34,37,51..54)
                     /site_type="other"
                     /note="AP-1 mu interface [polypeptide binding]"
                     /db_xref="CDD:341435"
     CDS             1..154
                     /gene="AP1S3"
                     /gene_synonym="PSORS15; sigma1C"
                     /coded_by="NM_001039569.2:133..597"
                     /db_xref="CCDS:CCDS42827.1"
                     /db_xref="GeneID:130340"
                     /db_xref="HGNC:HGNC:18971"
                     /db_xref="MIM:615781"
ORIGIN      
        1 mihfillfsr qgklrlqkwy itlpdkerkk itreivqiil srghrtssfv dwkelklvyk
       61 ryaslyfcca ienqdnellt leivhryvel ldkyfgnvce ldiifnfeka yfildefiig
      121 geiqetskki avkaiedsdm lqetmeeymn kptf
//
LOCUS       NP_001273339             411 aa            linear   PRI 23-DEC-2022
DEFINITION  5-hydroxytryptamine receptor 4 isoform c [Homo sapiens].
ACCESSION   NP_001273339
VERSION     NP_001273339.1
DBSOURCE    REFSEQ: accession NM_001286410.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 411)
  AUTHORS   Kohler-Forsberg K, Ozenne B, Larsen SV, Poulsen AS, Landman EB, Dam
            VH, Ip CT, Jorgensen A, Svarer C, Knudsen GM, Frokjaer VG and
            Jorgensen MB.
  TITLE     Concurrent anxiety in patients with major depression and cerebral
            serotonin 4 receptor binding. A NeuroPharm-1 study
  JOURNAL   Transl Psychiatry 12 (1), 273 (2022)
   PUBMED   35821015
  REMARK    GeneRIF: Concurrent anxiety in patients with major depression and
            cerebral serotonin 4 receptor binding. A NeuroPharm-1 study.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 411)
  AUTHORS   Maillet M, Gastineau M, Bochet P, Asselin-Labat ML, Morel E,
            Laverriere JN, Lompre AM, Fischmeister R and Lezoualc'h F.
  TITLE     Functional studies of the 5'-untranslated region of human 5-HT4
            receptor mRNA
  JOURNAL   Biochem J 387 (Pt 2), 463-471 (2005)
   PUBMED   15575821
  REMARK    GeneRIF: Our results suggest a complex regulation of the h5-HT4
            receptor gene expression involving distinct promoters and
            non-coding exons.
REFERENCE   3  (residues 1 to 411)
  AUTHORS   Brattelid T, Kvingedal AM, Krobert KA, Andressen KW, Bach T, Hystad
            ME, Kaumann AJ and Levy FO.
  TITLE     Cloning, pharmacological characterisation and tissue distribution
            of a novel 5-HT4 receptor splice variant, 5-HT4(i)
  JOURNAL   Naunyn Schmiedebergs Arch Pharmacol 369 (6), 616-628 (2004)
   PUBMED   15118808
REFERENCE   4  (residues 1 to 411)
  AUTHORS   Hiroi T, Hayashi-Kobayashi N, Nagumo S, Ino M, Okawa Y, Aoba A and
            Matsui H.
  TITLE     Identification and characterization of the human serotonin-4
            receptor gene promoter
  JOURNAL   Biochem Biophys Res Commun 289 (2), 337-344 (2001)
   PUBMED   11716477
  REMARK    GeneRIF: This paper presents an analysis of the SH3TC2 promoter
            after identifying a read-through transcript of the SH3TC2 and HTR4
            loci. Available data suggests HTR4 is a separate locus with its own
            promoter, and not the product of a bi-cistronic transcript.
REFERENCE   5  (residues 1 to 411)
  AUTHORS   Bender E, Pindon A, van Oers I, Zhang YB, Gommeren W, Verhasselt P,
            Jurzak M, Leysen J and Luyten W.
  TITLE     Structure of the human serotonin 5-HT4 receptor gene and cloning of
            a novel 5-HT4 splice variant
  JOURNAL   J Neurochem 74 (2), 478-489 (2000)
   PUBMED   10646498
REFERENCE   6  (residues 1 to 411)
  AUTHORS   Claeysen S, Sebben M, Becamel C, Bockaert J and Dumuis A.
  TITLE     Novel brain-specific 5-HT4 receptor splice variants show marked
            constitutive activity: role of the C-terminal intracellular domain
  JOURNAL   Mol Pharmacol 55 (5), 910-920 (1999)
   PUBMED   10220570
REFERENCE   7  (residues 1 to 411)
  AUTHORS   Blondel O, Gastineau M, Dahmoune Y, Langlois M and Fischmeister R.
  TITLE     Cloning, expression, and pharmacology of four human
            5-hydroxytryptamine 4 receptor isoforms produced by alternative
            splicing in the carboxyl terminus
  JOURNAL   J Neurochem 70 (6), 2252-2261 (1998)
   PUBMED   9603189
REFERENCE   8  (residues 1 to 411)
  AUTHORS   Cichon S, Kesper K, Propping P and Nothen MM.
  TITLE     Assignment of the human serotonin 4 receptor gene (HTR4) to the
            long arm of chromosome 5 (5q31-q33)
  JOURNAL   Mol Membr Biol 15 (2), 75-78 (1998)
   PUBMED   9724925
REFERENCE   9  (residues 1 to 411)
  AUTHORS   Blondel O, Vandecasteele G, Gastineau M, Leclerc S, Dahmoune Y,
            Langlois M and Fischmeister R.
  TITLE     Molecular and functional characterization of a 5-HT4 receptor
            cloned from human atrium
  JOURNAL   FEBS Lett 412 (3), 465-474 (1997)
   PUBMED   9276448
REFERENCE   10 (residues 1 to 411)
  AUTHORS   Ullmer C, Schmuck K, Kalkman HO and Lubbert H.
  TITLE     Expression of serotonin receptor mRNAs in blood vessels
  JOURNAL   FEBS Lett 370 (3), 215-221 (1995)
   PUBMED   7656980
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008627.7, Y12506.1 and
            AM712912.1.
            
            Summary: This gene is a member of the family of serotonin
            receptors, which are G protein coupled receptors that stimulate
            cAMP production in response to serotonin (5-hydroxytryptamine). The
            gene product is a glycosylated transmembrane protein that functions
            in both the peripheral and central nervous system to modulate the
            release of various neurotransmitters. Multiple transcript variants
            encoding proteins with distinct C-terminal sequences have been
            described. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (c) has a shorter 5' UTR and uses
            an alternate exon in the 3' UTR and coding region. The encoded
            isoform (c) is shorter and has a distinct C-terminus compared to
            isoform b.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Y12506.1, SRR1803612.276540.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152474, SAMEA2152798
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..411
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     Protein         1..411
                     /product="5-hydroxytryptamine receptor 4 isoform c"
                     /note="cardiac 5-HT4 receptor; 5-hydroxytryptamine
                     (serotonin) receptor 4, G protein-coupled"
                     /calculated_mol_wt=46776
     Site            7
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13639.2)"
     Region          20..323
                     /region_name="7tmA_5-HT4"
                     /note="serotonin receptor subtype 4, member of the class A
                     family of seven-transmembrane G protein-coupled receptors;
                     cd15056"
                     /db_xref="CDD:320184"
     Site            20..40
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13639.2)"
     Region          21..47
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320184"
     Region          55..81
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320184"
     Site            59..79
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13639.2)"
     Region          93..123
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320184"
     Site            94..116
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13639.2)"
     Site            order(96,100..101,104..105,186,193,196..197,200,272,
                     275..276,279,294,298,302)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:320184"
     Region          136..159
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320184"
     Site            138..158
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13639.2)"
     Region          189..218
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320184"
     Site            193..213
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13639.2)"
     Region          252..282
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320184"
     Site            261..281
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13639.2)"
     Region          291..316
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320184"
     Site            295..315
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13639.2)"
     CDS             1..411
                     /gene="HTR4"
                     /gene_synonym="5-HT4; 5-HT4R"
                     /coded_by="NM_001286410.1:48..1283"
                     /note="isoform c is encoded by transcript variant c"
                     /db_xref="CCDS:CCDS75353.1"
                     /db_xref="GeneID:3360"
                     /db_xref="HGNC:HGNC:5299"
                     /db_xref="MIM:602164"
ORIGIN      
        1 mdkldanvss eegfgsvekv vlltflstvi lmailgnllv mvavcwdrql rkiktnyfiv
       61 slafadllvs vlvmpfgaie lvqdiwiyge vfclvrtsld vllttasifh lccisldryy
      121 aiccqplvyr nkmtplrial mlggcwvipt fisflpimqg wnnigiidli ekrkfnqnsn
      181 stycvfmvnk pyaitcsvva fyipfllmvl ayyriyvtak ehahqiqmlq ragassesrp
      241 qsadqhsthr mrtetkaakt lciimgcfcl cwapffvtni vdpfidytvp gqvwtaflwl
      301 gyinsglnpf lyaflnksfr rafliilccd deryrrpsil gqtvpcsttt ingsthvlss
      361 gtetdrkklw nkeekidqti qmpkrkrkkk aslsyedlil lgrkscfreg k
//
LOCUS       NP_005474                956 aa            linear   PRI 24-DEC-2022
DEFINITION  chromatin assembly factor 1 subunit A [Homo sapiens].
ACCESSION   NP_005474
VERSION     NP_005474.2
DBSOURCE    REFSEQ: accession NM_005483.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 956)
  AUTHORS   Gopinathan Nair A, Rabas N, Lejon S, Homiski C, Osborne MJ, Cyr N,
            Sverzhinsky A, Melendy T, Pascal JM, Laue ED, Borden KLB,
            Omichinski JG and Verreault A.
  TITLE     Unorthodox PCNA Binding by Chromatin Assembly Factor 1
  JOURNAL   Int J Mol Sci 23 (19), 11099 (2022)
   PUBMED   36232396
  REMARK    GeneRIF: Unorthodox PCNA Binding by Chromatin Assembly Factor 1.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 956)
  AUTHORS   Yan W, Shi X, Wang H, Liao A and Yang W.
  TITLE     Aberrant SPOP-CHAF1A ubiquitination axis triggers tumor autophagy
            that endows a therapeutical vulnerability in diffuse large B cell
            lymphoma
  JOURNAL   J Transl Med 20 (1), 296 (2022)
   PUBMED   35773729
  REMARK    GeneRIF: Aberrant SPOP-CHAF1A ubiquitination axis triggers tumor
            autophagy that endows a therapeutical vulnerability in diffuse
            large B cell lymphoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 956)
  AUTHORS   Geis FK, Sabo Y, Chen X, Li Y, Lu C and Goff SP.
  TITLE     CHAF1A/B mediate silencing of unintegrated HIV-1 DNAs early in
            infection
  JOURNAL   Proc Natl Acad Sci U S A 119 (4) (2022)
   PUBMED   35074917
  REMARK    GeneRIF: CHAF1A/B mediate silencing of unintegrated HIV-1 DNAs
            early in infection.
REFERENCE   4  (residues 1 to 956)
  AUTHORS   Reddy D, Bhattacharya S, Shah S, Rashid M and Gupta S.
  TITLE     DNA methylation mediated downregulation of histone H3 variant H3.3
            affects cell proliferation contributing to the development of HCC
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1868 (1), 166284 (2022)
   PUBMED   34626773
  REMARK    GeneRIF: DNA methylation mediated downregulation of histone H3
            variant H3.3 affects cell proliferation contributing to the
            development of HCC.
REFERENCE   5  (residues 1 to 956)
  AUTHORS   Tao L, Moreno-Smith M, Ibarra-Garcia-Padilla R, Milazzo G, Drolet
            NA, Hernandez BE, Oh YS, Patel I, Kim JJ, Zorman B, Patel T, Kamal
            AHM, Zhao Y, Hicks J, Vasudevan SA, Putluri N, Coarfa C, Sumazin P,
            Perini G, Parchem RJ, Uribe RA and Barbieri E.
  TITLE     CHAF1A Blocks Neuronal Differentiation and Promotes Neuroblastoma
            Oncogenesis via Metabolic Reprogramming
  JOURNAL   Adv Sci (Weinh) 8 (19), e2005047 (2021)
   PUBMED   34365742
  REMARK    GeneRIF: CHAF1A Blocks Neuronal Differentiation and Promotes
            Neuroblastoma Oncogenesis via Metabolic Reprogramming.
REFERENCE   6  (residues 1 to 956)
  AUTHORS   Murzina N, Verreault A, Laue E and Stillman B.
  TITLE     Heterochromatin dynamics in mouse cells: interaction between
            chromatin assembly factor 1 and HP1 proteins
  JOURNAL   Mol Cell 4 (4), 529-540 (1999)
   PUBMED   10549285
REFERENCE   7  (residues 1 to 956)
  AUTHORS   Shibahara K and Stillman B.
  TITLE     Replication-dependent marking of DNA by PCNA facilitates
            CAF-1-coupled inheritance of chromatin
  JOURNAL   Cell 96 (4), 575-585 (1999)
   PUBMED   10052459
REFERENCE   8  (residues 1 to 956)
  AUTHORS   Marheineke K and Krude T.
  TITLE     Nucleosome assembly activity and intracellular localization of
            human CAF-1 changes during the cell division cycle
  JOURNAL   J Biol Chem 273 (24), 15279-15286 (1998)
   PUBMED   9614144
REFERENCE   9  (residues 1 to 956)
  AUTHORS   Verreault A, Kaufman PD, Kobayashi R and Stillman B.
  TITLE     Nucleosome assembly by a complex of CAF-1 and acetylated histones
            H3/H4
  JOURNAL   Cell 87 (1), 95-104 (1996)
   PUBMED   8858152
REFERENCE   10 (residues 1 to 956)
  AUTHORS   Kaufman PD, Kobayashi R, Kessler N and Stillman B.
  TITLE     The p150 and p60 subunits of chromatin assembly factor I: a
            molecular link between newly synthesized histones and DNA
            replication
  JOURNAL   Cell 81 (7), 1105-1114 (1995)
   PUBMED   7600578
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011498.7, BQ889365.1, BC052620.1, U20979.1, BG775588.1,
            BM826511.1, H98924.1, BE796132.1 and AA576757.1.
            On Jul 22, 2004 this sequence version replaced NP_005474.1.
            
            Summary: Chromatin assembly factor I (CAF1) is a nuclear complex
            consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A)
            subunits that assembles histone octamers onto replicating DNA in
            vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM,
            Mar 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.121232.1,
                                           SRR1660803.107529.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301280.10/ ENSP00000301280.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..956
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..956
                     /product="chromatin assembly factor 1 subunit A"
                     /note="chromatin assembly factor I (150 kDa); hp150; CAF-I
                     p150; CAF-1 subunit A; CAF-I 150 kDa subunit; chromatin
                     assembly factor I p150 subunit; CTB-50L17.7"
                     /calculated_mol_wt=106779
     Region          1..314
                     /region_name="Binds to CBX1 chromo shadow domain"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Region          1..226
                     /region_name="CAF1-p150_N"
                     /note="CAF1 complex subunit p150, region binding to PCNA;
                     pfam15557"
                     /db_xref="CDD:434788"
     Region          1..49
                     /region_name="Binds to PCNA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Region          45..65
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Site            65
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q13111.3)"
     Region          122..155
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Site            123
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q13111.3)"
     Site            138
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q13111.3)"
     Site            141
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Site            143
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q13111.3)"
     Region          188..222
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Site            206
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13111.3)"
     Site            224
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q13111.3)"
     Region          233..246
                     /region_name="PxVxL motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Region          250..432
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Site            310
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13111.3)"
     Region          320..479
                     /region_name="CAF-1_p150"
                     /note="Chromatin assembly factor 1 complex p150 subunit,
                     N-terminal; pfam11600"
                     /db_xref="CDD:402959"
     Region          558..>601
                     /region_name="CAF1A"
                     /note="Chromatin assembly factor 1 subunit A; pfam12253"
                     /db_xref="CDD:432429"
     Region          599..639
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Region          642..678
                     /region_name="Necessary for homodimerization and
                     competence for chromatin assembly"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Region          660..956
                     /region_name="Binds to p60"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Region          665..954
                     /region_name="CAF1-p150_C2"
                     /note="CAF1 complex subunit p150, region binding to
                     CAF1-p60 at C-term; pfam15539"
                     /db_xref="CDD:434777"
     Site            722
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Region          765..790
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Site            772
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13111.3)"
     Site            775
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q13111.3)"
     Site            803
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13111.3)"
     Region          844..873
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Site            865
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q13111.3)"
     Site            868
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13111.3)"
     Site            873
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Region          933..956
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     Site            951
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q13111.3)"
     CDS             1..956
                     /gene="CHAF1A"
                     /gene_synonym="CAF-1; CAF1; CAF1B; CAF1P150; P150"
                     /coded_by="NM_005483.3:124..2994"
                     /db_xref="CCDS:CCDS32875.1"
                     /db_xref="GeneID:10036"
                     /db_xref="HGNC:HGNC:1910"
                     /db_xref="MIM:601246"
ORIGIN      
        1 mleelecgap gargaatamd ckdrpafpvk kliqarlpfk rlnlvpkgka ddmsddqgts
       61 vqskspdlea sldtlennch vgsdidfrpk lvngkgpldn flrnrietsi gqstviidlt
      121 edsneqpdsl vdhnklnsea spsreaingq redtgdqqgl lkaiqndkla fpgetlsdip
      181 ckteeegvgc ggagrrgdsq ecsprscpel tsgprmcprk eqdswseagg ilfkgkvpmv
      241 vlqdilavrp pqikslpatp qgknmtpese vlesfpeeds vlshsslssp sstsspegpp
      301 appkqhssts pfptstplrr itkkfvkgst eknklrlqrd qerlgkqlkl raereekekl
      361 keeakrakee akkkkeeeke lkekerrekr ekdekekaek qrlkeerrke rqealeakle
      421 ekrkkeeekr lreeekrika ekaeitrffq kpktpqapkt lagscgkfap feikehmvla
      481 prrrtafhpd lcsqldqllq qqsgefsflk dlkgrqplrs gpthvstrna difnsdvviv
      541 ergkgdgvpe rrkfgrmkll qfcenhrpay wgtwnkktal irardpwaqd tklldyevds
      601 deeweeeepg eslshsegdd dddmgedede ddgffvphgy lsedegvtee cadpenhkvr
      661 qklkakewde flakgkrfrv lqpvkigcvw aadrdcagdd lkvlqqfaac fletlpaqee
      721 qtpkaskrer rdeqilaqll pllhgnvngs kviirefqeh crrgllsnht gsprspstty
      781 lhtptpseda aipsksrlkr lisensvyek rpdfrmcwyv hpqvlqsfqq ehlpvpcqws
      841 yvtsvpsapk edsgsvpstg psqgtpislk rksagsmcit qfmkkrrhdg qigaedmdgf
      901 qadteeeeee egdcmivdvp daaevqapcg aasgagggvg vdtgkatlta splgas
//
LOCUS       NP_008833                217 aa            linear   PRI 25-DEC-2022
DEFINITION  paired mesoderm homeobox protein 1 isoform pmx-1a [Homo sapiens].
ACCESSION   NP_008833
VERSION     NP_008833.1
DBSOURCE    REFSEQ: accession NM_006902.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 217)
  AUTHORS   He Y, Zheng L, Yuan M, Fan J, Rong L, Zhan T and Zhang J.
  TITLE     Exosomal circPRRX1 functions as a ceRNA for miR-596 to promote the
            proliferation, migration, invasion, and reduce radiation
            sensitivity of gastric cancer cells via the upregulation of
            NF-kappaB activating protein
  JOURNAL   Anticancer Drugs 33 (10), 1114-1125 (2022)
   PUBMED   36206097
  REMARK    GeneRIF: Exosomal circPRRX1 functions as a ceRNA for miR-596 to
            promote the proliferation, migration, invasion, and reduce
            radiation sensitivity of gastric cancer cells via the upregulation
            of NF-kappaB activating protein.
REFERENCE   2  (residues 1 to 217)
  AUTHORS   Gao J, Ma K, Zhang L, Li T, Zhao B and Jiang Y.
  TITLE     Paired related homeobox 1 attenuates autophagy via acetyl-CoA
            carboxylase 1-regulated fatty acid metabolism in salivary adenoid
            cystic carcinoma
  JOURNAL   FEBS Open Bio 12 (5), 1006-1016 (2022)
   PUBMED   35032368
  REMARK    GeneRIF: Paired related homeobox 1 attenuates autophagy via
            acetyl-CoA carboxylase 1-regulated fatty acid metabolism in
            salivary adenoid cystic carcinoma.
REFERENCE   3  (residues 1 to 217)
  AUTHORS   Meng Z, Chen Y, Wu W, Yan B, Zhang L, Chen H, Meng Y, Liang Y, Yao
            X and Luo J.
  TITLE     PRRX1 Is a Novel Prognostic Biomarker and Facilitates Tumor
            Progression Through Epithelial-Mesenchymal Transition in Uveal
            Melanoma
  JOURNAL   Front Immunol 13, 754645 (2022)
   PUBMED   35281030
  REMARK    GeneRIF: PRRX1 Is a Novel Prognostic Biomarker and Facilitates
            Tumor Progression Through Epithelial-Mesenchymal Transition in
            Uveal Melanoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 217)
  AUTHORS   Zhang X, Ma L, Shen Y, Zhang C, Hou B and Zhou Y.
  TITLE     Transcription factor paired related homeobox 1 (PRRX1) activates
            matrix metalloproteinases (MMP)13, which promotes the dextran
            sulfate sodium-induced inflammation and barrier dysfunction of
            NCM460 cells
  JOURNAL   Bioengineered 13 (1), 645-654 (2022)
   PUBMED   34967278
  REMARK    GeneRIF: Transcription factor paired related homeobox 1 (PRRX1)
            activates matrix metalloproteinases (MMP)13, which promotes the
            dextran sulfate sodium-induced inflammation and barrier dysfunction
            of NCM460 cells.
REFERENCE   5  (residues 1 to 217)
  AUTHORS   Guo XJ, Qiu XB, Wang J, Guo YH, Yang CX, Li L, Gao RF, Ke ZP, Di
            RM, Sun YM, Xu YJ and Yang YQ.
  TITLE     PRRX1 Loss-of-Function Mutations Underlying Familial Atrial
            Fibrillation
  JOURNAL   J Am Heart Assoc 10 (23), e023517 (2021)
   PUBMED   34845933
  REMARK    GeneRIF: PRRX1 Loss-of-Function Mutations Underlying Familial
            Atrial Fibrillation.
REFERENCE   6  (residues 1 to 217)
  AUTHORS   Kataoka K, Yoshitomo-Nakagawa K, Shioda S and Nishizawa M.
  TITLE     A set of Hox proteins interact with the Maf oncoprotein to inhibit
            its DNA binding, transactivation, and transforming activities
  JOURNAL   J Biol Chem 276 (1), 819-826 (2001)
   PUBMED   11036080
REFERENCE   7  (residues 1 to 217)
  AUTHORS   Nakamura T, Yamazaki Y, Hatano Y and Miura I.
  TITLE     NUP98 is fused to PMX1 homeobox gene in human acute myelogenous
            leukemia with chromosome translocation t(1;11)(q23;p15)
  JOURNAL   Blood 94 (2), 741-747 (1999)
   PUBMED   10397741
REFERENCE   8  (residues 1 to 217)
  AUTHORS   Grueneberg DA, Henry RW, Brauer A, Novina CD, Cheriyath V, Roy AL
            and Gilman M.
  TITLE     A multifunctional DNA-binding protein that promotes the formation
            of serum response factor/homeodomain complexes: identity to TFII-I
  JOURNAL   Genes Dev 11 (19), 2482-2493 (1997)
   PUBMED   9334314
REFERENCE   9  (residues 1 to 217)
  AUTHORS   Grueneberg DA, Simon KJ, Brennan K and Gilman M.
  TITLE     Sequence-specific targeting of nuclear signal transduction pathways
            by homeodomain proteins
  JOURNAL   Mol Cell Biol 15 (6), 3318-3326 (1995)
   PUBMED   7760827
REFERENCE   10 (residues 1 to 217)
  AUTHORS   Grueneberg DA, Natesan S, Alexandre C and Gilman MZ.
  TITLE     Human and Drosophila homeodomain proteins that enhance the
            DNA-binding activity of serum response factor
  JOURNAL   Science 257 (5073), 1089-1095 (1992)
   PUBMED   1509260
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z97200.1, AA452918.1,
            BC074993.2, AA758879.1 and KF455066.1.
            
            Summary: The DNA-associated protein encoded by this gene is a
            member of the paired family of homeobox proteins localized to the
            nucleus. The protein functions as a transcription co-activator,
            enhancing the DNA-binding activity of serum response factor, a
            protein required for the induction of genes by growth and
            differentiation factors. The protein regulates muscle creatine
            kinase, indicating a role in the establishment of diverse
            mesodermal muscle types. Alternative splicing yields two isoforms
            that differ in abundance and expression patterns. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (pmx-1a) includes an alternate
            exon in the 3' coding region, compared to variant pmx-1b. The
            resulting protein (pmx-1a) has a distinct C-terminus, compared to
            isoform pmx-1b.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3902060.1,
                                           SRR11853561.2141.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..217
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.2"
     Protein         1..217
                     /product="paired mesoderm homeobox protein 1 isoform
                     pmx-1a"
                     /note="homeobox protein PHOX1"
                     /calculated_mol_wt=24265
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P54821.2)"
     Site            21
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P63014; propagated from
                     UniProtKB/Swiss-Prot (P54821.2)"
     Region          63..103
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P54821.2)"
     Region          99..150
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     Site            order(100,140,143..144,147)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Site            160
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P63013; propagated from
                     UniProtKB/Swiss-Prot (P54821.2)"
     Site            197
                     /site_type="phosphorylation"
                     /note="Phosphoserine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P54821.2)"
     CDS             1..217
                     /gene="PRRX1"
                     /gene_synonym="AGOTC; PHOX1; PMX1; PRX-1; PRX1"
                     /coded_by="NM_006902.5:89..742"
                     /note="isoform pmx-1a is encoded by transcript variant
                     pmx-1a"
                     /db_xref="CCDS:CCDS1291.1"
                     /db_xref="GeneID:5396"
                     /db_xref="HGNC:HGNC:9142"
                     /db_xref="MIM:167420"
ORIGIN      
        1 mtssyghvle rqpalggrld spgnldtlqa kknfsvshll dleeagdmva aqadenvgea
       61 grsllespgl tsgsdtpqqd ndqlnseekk krkqrrnrtt fnssqlqale rvferthypd
      121 afvredlarr vnltearvqv wfqnrrakfr rneramlank nasllksysg dvtaveqpiv
      181 prpaprptdy lswgtaspyr ssslprcclh eglhngf
//
LOCUS       NP_003285                275 aa            linear   PRI 25-DEC-2022
DEFINITION  tryptase alpha/beta-1 precursor [Homo sapiens].
ACCESSION   NP_003285 NP_003284 XP_001720790 XP_001720792
VERSION     NP_003285.2
DBSOURCE    REFSEQ: accession NM_003294.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 275)
  AUTHORS   Lyons JJ, Chovanec J, O'Connell MP, Liu Y, Selb J, Zanotti R, Bai
            Y, Kim J, Le QT, DiMaggio T, Schwartz LB, Komarow HD, Rijavec M,
            Carter MC, Milner JD, Bonadonna P, Metcalfe DD and Korosec P.
  TITLE     Heritable risk for severe anaphylaxis associated with increased
            alpha-tryptase-encoding germline copy number at TPSAB1
  JOURNAL   J Allergy Clin Immunol 147 (2), 622-632 (2021)
   PUBMED   32717252
  REMARK    GeneRIF: Heritable risk for severe anaphylaxis associated with
            increased alpha-tryptase-encoding germline copy number at TPSAB1.
REFERENCE   2  (residues 1 to 275)
  AUTHORS   Greiner G, Sprinzl B, Gorska A, Ratzinger F, Gurbisz M, Witzeneder
            N, Schmetterer KG, Gisslinger B, Uyanik G, Hadzijusufovic E,
            Esterbauer H, Gleixner KV, Krauth MT, Pfeilstocker M, Keil F,
            Gisslinger H, Nedoszytko B, Niedoszytko M, Sperr WR, Valent P and
            Hoermann G.
  TITLE     Hereditary alpha tryptasemia is a valid genetic biomarker for
            severe mediator-related symptoms in mastocytosis
  JOURNAL   Blood 137 (2), 238-247 (2021)
   PUBMED   32777817
  REMARK    GeneRIF: Hereditary alpha tryptasemia is a valid genetic biomarker
            for severe mediator-related symptoms in mastocytosis.
REFERENCE   3  (residues 1 to 275)
  AUTHORS   Alanazi S, Grujic M, Lampinen M, Rollman O, Sommerhoff CP, Pejler G
            and Melo FR.
  TITLE     Mast Cell beta-Tryptase Is Enzymatically Stabilized by DNA
  JOURNAL   Int J Mol Sci 21 (14), 5065 (2020)
   PUBMED   32709152
  REMARK    GeneRIF: Mast Cell beta-Tryptase Is Enzymatically Stabilized by
            DNA.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 275)
  AUTHORS   Le QT, Lyons JJ, Naranjo AN, Olivera A, Lazarus RA, Metcalfe DD,
            Milner JD and Schwartz LB.
  TITLE     Impact of naturally forming human alpha/beta-tryptase
            heterotetramers in the pathogenesis of hereditary alpha-tryptasemia
  JOURNAL   J Exp Med 216 (10), 2348-2361 (2019)
   PUBMED   31337736
  REMARK    GeneRIF: Allosteric effects of alpha-tryptase protomers on
            neighboring beta-tryptase protomers likely result in the novel
            substrate repertoire of alpha/beta-tryptase tetramers that in turn
            cause some of the clinical features of hereditary alpha-tryptasemia
            and of other disorders involving mast cells.
REFERENCE   5  (residues 1 to 275)
  AUTHORS   Finlin BS, Confides AL, Zhu B, Boulanger MC, Memetimin H, Taylor
            KW, Johnson ZR, Westgate PM, Dupont-Versteegden EE and Kern PA.
  TITLE     Adipose Tissue Mast Cells Promote Human Adipose Beiging in Response
            to Cold
  JOURNAL   Sci Rep 9 (1), 8658 (2019)
   PUBMED   31209239
  REMARK    GeneRIF: Adipose Tissue Mast Cells Promote Human Adipose Beiging in
            Response to Cold.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 275)
  AUTHORS   Miller JS, Moxley G and Schwartz LB.
  TITLE     Cloning and characterization of a second complementary DNA for
            human tryptase
  JOURNAL   J Clin Invest 86 (3), 864-870 (1990)
   PUBMED   2203827
REFERENCE   7  (residues 1 to 275)
  AUTHORS   Vanderslice P, Ballinger SM, Tam EK, Goldstein SM, Craik CS and
            Caughey GH.
  TITLE     Human mast cell tryptase: multiple cDNAs and genes reveal a
            multigene serine protease family
  JOURNAL   Proc Natl Acad Sci U S A 87 (10), 3811-3815 (1990)
   PUBMED   2187193
REFERENCE   8  (residues 1 to 275)
  AUTHORS   Miller JS, Westin EH and Schwartz LB.
  TITLE     Cloning and characterization of complementary DNA for human
            tryptase
  JOURNAL   J Clin Invest 84 (4), 1188-1195 (1989)
   PUBMED   2677049
REFERENCE   9  (residues 1 to 275)
  AUTHORS   Schwartz,L.B., Bradford,T.R., Littman,B.H. and Wintroub,B.U.
  TITLE     The fibrinogenolytic activity of purified tryptase from human lung
            mast cells
  JOURNAL   J Immunol 135 (4), 2762-2767 (1985)
   PUBMED   3161948
REFERENCE   10 (residues 1 to 275)
  AUTHORS   Schwartz,L.B., Lewis,R.A., Seldin,D. and Austen,K.F.
  TITLE     Acid hydrolases and tryptase from secretory granules of dispersed
            human lung mast cells
  JOURNAL   J Immunol 126 (4), 1290-1294 (1981)
   PUBMED   7009736
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC120498.2.
            On or before Mar 29, 2008 this sequence version replaced
            XP_001720790.1, XP_001720792.1, NP_003284.1, NP_003285.1.
            
            Summary: Tryptases comprise a family of trypsin-like serine
            proteases, the peptidase family S1. Tryptases are enzymatically
            active only as heparin-stabilized tetramers, and they are resistant
            to all known endogenous proteinase inhibitors. Several tryptase
            genes are clustered on chromosome 16p13.3. These genes are
            characterized by several distinct features. They have a highly
            conserved 3' UTR and contain tandem repeat sequences at the 5'
            flank and 3' UTR which are thought to play a role in regulation of
            the mRNA stability. These genes have an intron immediately upstream
            of the initiator Met codon, which separates the site of
            transcription initiation from protein coding sequence. This feature
            is characteristic of tryptases but is unusual in other genes. The
            alleles of this gene exhibit an unusual amount of sequence
            variation, such that the alleles were once thought to represent two
            separate genes, alpha and beta 1. Beta tryptases appear to be the
            main isoenzymes expressed in mast cells; whereas in basophils,
            alpha tryptases predominate. Tryptases have been implicated as
            mediators in the pathogenesis of asthma and other allergic and
            inflammatory disorders. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: GQ891538.1, ERR279844.60.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338844.8/ ENSP00000343577.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..275
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..275
                     /product="tryptase alpha/beta-1 precursor"
                     /EC_number="3.4.21.59"
                     /note="tryptase beta I; tryptase alpha II; tryptase-III;
                     tryptase beta-1; tryptase alpha-1; mast cell beta I
                     tryptase; mast cell alpha II tryptase; tryptase-1;
                     Tryptase beta-2; Tryptase II; epididymis secretory sperm
                     binding protein; mast cell tryptase"
                     /calculated_mol_wt=27445
     sig_peptide     1..30
                     /calculated_mol_wt=3089
     mat_peptide     31..275
                     /product="tryptase alpha/beta-1"
                     /calculated_mol_wt=27445
     Region          31..268
                     /region_name="Tryp_SPc"
                     /note="Trypsin-like serine protease; Many of these are
                     synthesized as inactive precursor zymogens that are
                     cleaved during limited proteolysis to generate their
                     active forms. Alignment contains also inactive enzymes
                     that have substitutions of the catalytic triad...;
                     cd00190"
                     /db_xref="CDD:238113"
     Site            31
                     /site_type="active"
                     /note="cleavage site [active]"
                     /db_xref="CDD:238113"
     Site            order(74,121,224)
                     /site_type="active"
                     /db_xref="CDD:238113"
     Site            132
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15661.1)"
     Site            order(218,243,245)
                     /site_type="other"
                     /note="substrate binding sites [chemical binding]"
                     /db_xref="CDD:238113"
     Site            233
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q15661.1)"
     CDS             1..275
                     /gene="TPSAB1"
                     /gene_synonym="TPS1; TPS2; TPSB1; TPSB2; Tryptase-2"
                     /coded_by="NM_003294.4:25..852"
                     /db_xref="CCDS:CCDS10431.1"
                     /db_xref="GeneID:7177"
                     /db_xref="HGNC:HGNC:12019"
                     /db_xref="MIM:191080"
ORIGIN      
        1 mlnllllalp vlasrayaap apgqalqrvg ivggqeaprs kwpwqvslrv hgpywmhfcg
       61 gslihpqwvl taahcvgpdv kdlaalrvql reqhlyyqdq llpvsriivh pqfytaqiga
      121 dialleleep vnvsshvhtv tlppasetfp pgmpcwvtgw gdvdnderlp ppfplkqvkv
      181 pimenhicda kyhlgaytgd dvrivrddml cagntrrdsc qgdsggplvc kvngtwlqag
      241 vvswgegcaq pnrpgiytrv tyyldwihhy vpkkp
//
LOCUS       NP_001357289             142 aa            linear   PRI 25-DEC-2022
DEFINITION  peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_001357289
VERSION     NP_001357289.1
DBSOURCE    REFSEQ: accession NM_001370360.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 142)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 142)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 142)
  AUTHORS   Ishikawa Y, Mizuno K and Bachinger HP.
  TITLE     Ziploc-ing the structure 2.0: Endoplasmic reticulum-resident
            peptidyl prolyl isomerases show different activities toward
            hydroxyproline
  JOURNAL   J Biol Chem 292 (22), 9273-9282 (2017)
   PUBMED   28385890
  REMARK    GeneRIF: observed changes in activity of six rER-resident PPIases,
            cyclophilin B (encoded by the PPIB gene), FKBP13 (FKBP2), FKBP19
            (FKBP11), FKBP22 (FKBP14), FKBP23 (FKBP7), and FKBP65 (FKBP10), due
            to posttranslational modifications of proline residues in the
            substrate.
REFERENCE   4  (residues 1 to 142)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (residues 1 to 142)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 142)
  AUTHORS   Bush KT, Hendrickson BA and Nigam SK.
  TITLE     Induction of the FK506-binding protein, FKBP13, under conditions
            which misfold proteins in the endoplasmic reticulum
  JOURNAL   Biochem J 303 (Pt 3) (Pt 3), 705-708 (1994)
   PUBMED   7526846
  REMARK    Erratum:[Biochem J 1995 Feb 1;305(Pt 3):1031]
REFERENCE   7  (residues 1 to 142)
  AUTHORS   Hendrickson BA, Zhang W, Craig RJ, Jin YJ, Bierer BE, Burakoff S
            and DiLella AG.
  TITLE     Structural organization of the genes encoding human and murine
            FK506-binding protein (FKBP) 13 and comparison to FKBP1
  JOURNAL   Gene 134 (2), 271-275 (1993)
   PUBMED   7505249
REFERENCE   8  (residues 1 to 142)
  AUTHORS   Nigam SK, Jin YJ, Jin MJ, Bush KT, Bierer BE and Burakoff SJ.
  TITLE     Localization of the FK506-binding protein, FKBP 13, to the lumen of
            the endoplasmic reticulum
  JOURNAL   Biochem J 294 (Pt 2) (Pt 2), 511-515 (1993)
   PUBMED   8373365
REFERENCE   9  (residues 1 to 142)
  AUTHORS   DiLella AG, Hawkins A, Craig RJ, Schreiber SL and Griffin CA.
  TITLE     Chromosomal band assignments of the genes encoding human FKBP12 and
            FKBP13
  JOURNAL   Biochem Biophys Res Commun 189 (2), 819-823 (1992)
   PUBMED   1281998
REFERENCE   10 (residues 1 to 142)
  AUTHORS   Jin YJ, Albers MW, Lane WS, Bierer BE, Schreiber SL and Burakoff
            SJ.
  TITLE     Molecular cloning of a membrane-associated human FK506- and
            rapamycin-binding protein, FKBP-13
  JOURNAL   Proc Natl Acad Sci U S A 88 (15), 6677-6681 (1991)
   PUBMED   1713687
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001453.6.
            
            Summary: The protein encoded by this gene is a member of the
            immunophilin protein family, which play a role in immunoregulation
            and basic cellular processes involving protein folding and
            trafficking. This encoded protein is a cis-trans prolyl isomerase
            that binds the immunosuppressants FK506 and rapamycin. It is
            thought to function as an ER chaperone and may also act as a
            component of membrane cytoskeletal scaffolds. Multiple
            alternatively spliced variants, encoding the same protein, have
            been identified. [provided by RefSeq, Sep 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..142
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     Protein         1..142
                     /product="peptidyl-prolyl cis-trans isomerase FKBP2
                     isoform 1 precursor"
                     /EC_number="5.2.1.8"
                     /note="rapamycin-binding protein; proline isomerase;
                     peptidyl-prolyl cis-trans isomerase FKBP2; 13 kDa FKBP;
                     PPIase FKBP2; immunophilin FKBP13; 13 kDa FK506-binding
                     protein; rotamase; FK506 binding protein 2, 13kDa;
                     epididymis secretory sperm binding protein; FK506-binding
                     protein 2"
                     /calculated_mol_wt=13300
     sig_peptide     1..21
                     /note="propagated from UniProtKB/Swiss-Prot (P26885.2)"
                     /calculated_mol_wt=2367
     mat_peptide     22..142
                     /product="Peptidyl-prolyl cis-trans isomerase FKBP2.
                     /id=PRO_0000025506"
                     /note="propagated from UniProtKB/Swiss-Prot (P26885.2)"
                     /calculated_mol_wt=13300
     Region          42..134
                     /region_name="FKBP_C"
                     /note="FKBP-type peptidyl-prolyl cis-trans isomerase;
                     pfam00254"
                     /db_xref="CDD:425560"
     Region          139..142
                     /region_name="Prevents secretion from ER.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P26885.2)"
     CDS             1..142
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /coded_by="NM_001370360.1:301..729"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 4"
                     /db_xref="CCDS:CCDS8063.1"
                     /db_xref="GeneID:2286"
                     /db_xref="HGNC:HGNC:3718"
                     /db_xref="MIM:186946"
ORIGIN      
        1 mrlswfrvlt vlsiclsava tatgaegkrk lqigvkkrvd hcpiksrkgd vlhmhytgkl
       61 edgtefdssl pqnqpfvfsl gtgqvikgwd qgllgmcege krklvipsel gygergappk
      121 ipggatlvfe vellkierrt el
//
LOCUS       NP_078880                665 aa            linear   PRI 25-DEC-2022
DEFINITION  RNA polymerase II-associated protein 3 isoform 1 [Homo sapiens].
ACCESSION   NP_078880
VERSION     NP_078880.2
DBSOURCE    REFSEQ: accession NM_024604.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 665)
  AUTHORS   Cloutier P, Poitras C, Faubert D, Bouchard A, Blanchette M,
            Gauthier MS and Coulombe B.
  TITLE     Upstream ORF-Encoded ASDURF Is a Novel Prefoldin-like Subunit of
            the PAQosome
  JOURNAL   J Proteome Res 19 (1), 18-27 (2020)
   PUBMED   31738558
REFERENCE   2  (residues 1 to 665)
  AUTHORS   Henri J, Chagot ME, Bourguet M, Abel Y, Terral G, Maurizy C,
            Aigueperse C, Georgescauld F, Vandermoere F, Saint-Fort R,
            Behm-Ansmant I, Charpentier B, Pradet-Balade B, Verheggen C,
            Bertrand E, Meyer P, Cianferani S, Manival X and Quinternet M.
  TITLE     Deep Structural Analysis of RPAP3 and PIH1D1, Two Components of the
            HSP90 Co-chaperone R2TP Complex
  JOURNAL   Structure 26 (9), 1196-1209 (2018)
   PUBMED   30033218
  REMARK    GeneRIF: Results show the TPR2 domain in RPAP3 is responsible for
            the recruitment of HSP90, its N-terminal domain participates to the
            positive regulation of HSP90.
REFERENCE   3  (residues 1 to 665)
  AUTHORS   Martino F, Pal M, Munoz-Hernandez H, Rodriguez CF, Nunez-Ramirez R,
            Gil-Carton D, Degliesposti G, Skehel JM, Roe SM, Prodromou C, Pearl
            LH and Llorca O.
  TITLE     RPAP3 provides a flexible scaffold for coupling HSP90 to the human
            R2TP co-chaperone complex
  JOURNAL   Nat Commun 9 (1), 1501 (2018)
   PUBMED   29662061
  REMARK    GeneRIF: RPAP3 provides a flexible scaffold for coupling HSP90 to
            the human R2TP co-chaperone complex.
            Erratum:[Nat Commun. 2018 Jul 31;9(1):3063. PMID: 30065299]
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 665)
  AUTHORS   Cloutier P, Poitras C, Durand M, Hekmat O, Fiola-Masson E, Bouchard
            A, Faubert D, Chabot B and Coulombe B.
  TITLE     R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with
            ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein
  JOURNAL   Nat Commun 8, 15615 (2017)
   PUBMED   28561026
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 665)
  AUTHORS   Horejsi Z, Takai H, Adelman CA, Collis SJ, Flynn H, Maslen S,
            Skehel JM, de Lange T and Boulton SJ.
  TITLE     CK2 phospho-dependent binding of R2TP complex to TEL2 is essential
            for mTOR and SMG1 stability
  JOURNAL   Mol Cell 39 (6), 839-850 (2010)
   PUBMED   20864032
REFERENCE   6  (residues 1 to 665)
  AUTHORS   Gano JJ and Simon JA.
  TITLE     A proteomic investigation of ligand-dependent HSP90 complexes
            reveals CHORDC1 as a novel ADP-dependent HSP90-interacting protein
  JOURNAL   Mol Cell Proteomics 9 (2), 255-270 (2010)
   PUBMED   19875381
REFERENCE   7  (residues 1 to 665)
  AUTHORS   Cloutier P, Al-Khoury R, Lavallee-Adam M, Faubert D, Jiang H,
            Poitras C, Bouchard A, Forget D, Blanchette M and Coulombe B.
  TITLE     High-resolution mapping of the protein interaction network for the
            human transcription machinery and affinity purification of RNA
            polymerase II-associated complexes
  JOURNAL   Methods 48 (4), 381-386 (2009)
   PUBMED   19450687
  REMARK    GeneRIF: Is part of an RNA polymerase II-associated complex with
            possible chaperone activity.
REFERENCE   8  (residues 1 to 665)
  AUTHORS   Ni L, Saeki M, Xu L, Nakahara H, Saijo M, Tanaka K and Kamisaki Y.
  TITLE     RPAP3 interacts with Reptin to regulate UV-induced phosphorylation
            of H2AX and DNA damage
  JOURNAL   J Cell Biochem 106 (5), 920-928 (2009)
   PUBMED   19180575
  REMARK    GeneRIF: RPAP3 interacts with Reptin to modulate UV-induced DNA
            damage by regulating H2AX phosphorylation
REFERENCE   9  (residues 1 to 665)
  AUTHORS   Itsuki Y, Saeki M, Nakahara H, Egusa H, Irie Y, Terao Y, Kawabata
            S, Yatani H and Kamisaki Y.
  TITLE     Molecular cloning of novel Monad binding protein containing
            tetratricopeptide repeat domains
  JOURNAL   FEBS Lett 582 (16), 2365-2370 (2008)
   PUBMED   18538670
  REMARK    GeneRIF: Overexpression of RPAP3 in HEK 293 cells potentiated
            caspase-3 activation and apoptosis.
REFERENCE   10 (residues 1 to 665)
  AUTHORS   Jeronimo C, Forget D, Bouchard A, Li Q, Chua G, Poitras C, Therien
            C, Bergeron D, Bourassa S, Greenblatt J, Chabot B, Poirier GG,
            Hughes TR, Blanchette M, Price DH and Coulombe B.
  TITLE     Systematic analysis of the protein interaction network for the
            human transcription machinery reveals the identity of the 7SK
            capping enzyme
  JOURNAL   Mol Cell 27 (2), 262-274 (2007)
   PUBMED   17643375
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA096405.1, AK025561.1,
            BC056415.1, AC004241.2 and N39593.1.
            On Mar 28, 2009 this sequence version replaced NP_078880.1.
            
            Summary: This gene encodes an RNA polymerase II-associated protein.
            The encoded protein may function in transcriptional regulation and
            may also regulate apoptosis. Alternatively spliced transcript
            variants have been described. [provided by RefSeq, Mar 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.55751.1,
                                           SRR1660803.240884.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000005386.8/ ENSP00000005386.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..665
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.11"
     Protein         1..665
                     /product="RNA polymerase II-associated protein 3 isoform
                     1"
                     /calculated_mol_wt=75588
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylthreonine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9H6T3.2)"
     Region          8..41
                     /region_name="TPR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6T3.2)"
     Region          37..82
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6T3.2)"
     Site            87
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9H6T3.2)"
     Region          109..129
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6T3.2)"
     Site            116
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9H6T3.2)"
     Site            119
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9H6T3.2)"
     Site            121
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9H6T3.2)"
     Region          133..166
                     /region_name="TPR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6T3.2)"
     Region          133..161
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(134,137..138,141..142,144,168,171..172,175..176,
                     178..179,202,205..206,209..210,213)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          136..>267
                     /region_name="PLN03088"
                     /note="SGT1, suppressor of G2 allele of SKP1; Provisional"
                     /db_xref="CDD:215568"
     Region          166..196
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          168..200
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6T3.2)"
     Region          201..234
                     /region_name="TPR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6T3.2)"
     Region          201..229
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          282..315
                     /region_name="TPR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6T3.2)"
     Site            order(286..287,290..291,293,317,320..321,324..325,
                     327..328,351,354..355,358..359,362)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          286..310
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          293..>431
                     /region_name="PLN03088"
                     /note="SGT1, suppressor of G2 allele of SKP1; Provisional"
                     /db_xref="CDD:215568"
     Region          315..345
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          317..349
                     /region_name="TPR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6T3.2)"
     Region          350..383
                     /region_name="TPR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6T3.2)"
     Region          350..377
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            481
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H6T3.2)"
     Region          546..636
                     /region_name="RPAP3_C"
                     /note="Potential Monad-binding region of RPAP3; pfam13877"
                     /db_xref="CDD:433548"
     CDS             1..665
                     /gene="RPAP3"
                     /gene_synonym="hSpagh; Tah1"
                     /coded_by="NM_024604.3:86..2083"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS8753.1"
                     /db_xref="GeneID:79657"
                     /db_xref="HGNC:HGNC:26151"
                     /db_xref="MIM:611477"
ORIGIN      
        1 mtsankaiel qlqvkqnaee lqdfmrdlen wekdikqkdm elrrqngvpe enlppirngn
       61 frkkkkgkak esskktreen tknriksydy eawakldvdr ildeldkdds theslsqese
      121 seedgihvds qkalvlkekg nkyfkqgkyd eaidcytkgm dadpynpvlp tnrasayfrl
      181 kkfavaesdc nlavalnrsy tkaysrrgaa rfalqkleea kkdyervlel epnnfeatne
      241 lrkisqalas kensypkead iviksteger kqieaqqnkq qaisekdrgn gffkegkyer
      301 aiecytrgia adganallpa nramaylkiq kyeeaekdct qailldgsys kafarrgtar
      361 tflgklneak qdfetvllle pgnkqavtel skikkeliek ghwddvflds tqrqnvvkpi
      421 dnpphpgstk plkkviieet gnliqtidvp dsttaaapen npinlanvia atgttskkns
      481 sqddlfptsd tprakvlkie evsdtsslqp qaslkqdvcq sysekmpiei eqkpaqfatt
      541 vlppipansf qlesdfrqlk sspdmlyqyl kqiepslypk lfqknldpdv fnqivkilhd
      601 fyiekekpll ifeilqrlse lkrfdmavmf msetekkiar alfnhidksg lkdssveelk
      661 krygg
//
LOCUS       NP_001354324            1362 aa            linear   PRI 25-DEC-2022
DEFINITION  WASH complex subunit 2C isoform 7 [Homo sapiens].
ACCESSION   NP_001354324
VERSION     NP_001354324.1
DBSOURCE    REFSEQ: accession NM_001367395.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1362)
  AUTHORS   McNally KE, Faulkner R, Steinberg F, Gallon M, Ghai R, Pim D,
            Langton P, Pearson N, Danson CM, Nagele H, Morris LL, Singla A,
            Overlee BL, Heesom KJ, Sessions R, Banks L, Collins BM, Berger I,
            Billadeau DD, Burstein E and Cullen PJ.
  TITLE     Retriever is a multiprotein complex for retromer-independent
            endosomal cargo recycling
  JOURNAL   Nat Cell Biol 19 (10), 1214-1225 (2017)
   PUBMED   28892079
REFERENCE   2  (residues 1 to 1362)
  AUTHORS   Follett J, Bugarcic A, Yang Z, Ariotti N, Norwood SJ, Collins BM,
            Parton RG and Teasdale RD.
  TITLE     Parkinson Disease-linked Vps35 R524W Mutation Impairs the Endosomal
            Association of Retromer and Induces alpha-Synuclein Aggregation
  JOURNAL   J Biol Chem 291 (35), 18283-18298 (2016)
   PUBMED   27385586
REFERENCE   3  (residues 1 to 1362)
  AUTHORS   Deng ZH, Gomez TS, Osborne DG, Phillips-Krawczak CA, Zhang JS and
            Billadeau DD.
  TITLE     Nuclear FAM21 participates in NF-kappaB-dependent gene regulation
            in pancreatic cancer cells
  JOURNAL   J Cell Sci 128 (2), 373-384 (2015)
   PUBMED   25431135
  REMARK    GeneRIF: FAM21 not only functions as an integral component of the
            cytoplasmic WASH complex, but also modulates NF-kappaB gene
            transcription in the nucleus.
REFERENCE   4  (residues 1 to 1362)
  AUTHORS   Phillips-Krawczak CA, Singla A, Starokadomskyy P, Deng Z, Osborne
            DG, Li H, Dick CJ, Gomez TS, Koenecke M, Zhang JS, Dai H,
            Sifuentes-Dominguez LF, Geng LN, Kaufmann SH, Hein MY, Wallis M,
            McGaughran J, Gecz J, Sluis Bv, Billadeau DD and Burstein E.
  TITLE     COMMD1 is linked to the WASH complex and regulates endosomal
            trafficking of the copper transporter ATP7A
  JOURNAL   Mol Biol Cell 26 (1), 91-103 (2015)
   PUBMED   25355947
REFERENCE   5  (residues 1 to 1362)
  AUTHORS   McGough IJ, Steinberg F, Gallon M, Yatsu A, Ohbayashi N, Heesom KJ,
            Fukuda M and Cullen PJ.
  TITLE     Identification of molecular heterogeneity in
            SNX27-retromer-mediated endosome-to-plasma-membrane recycling
  JOURNAL   J Cell Sci 127 (Pt 22), 4940-4953 (2014)
   PUBMED   25278552
REFERENCE   6  (residues 1 to 1362)
  AUTHORS   Hernandez-Valladares M, Kim T, Kannan B, Tung A, Aguda AH, Larsson
            M, Cooper JA and Robinson RC.
  TITLE     Structural characterization of a capping protein interaction motif
            defines a family of actin filament regulators
  JOURNAL   Nat Struct Mol Biol 17 (4), 497-503 (2010)
   PUBMED   20357771
REFERENCE   7  (residues 1 to 1362)
  AUTHORS   Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura
            Y and Kamatani N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   8  (residues 1 to 1362)
  AUTHORS   Derivery E, Sousa C, Gautier JJ, Lombard B, Loew D and Gautreau A.
  TITLE     The Arp2/3 activator WASH controls the fission of endosomes through
            a large multiprotein complex
  JOURNAL   Dev Cell 17 (5), 712-723 (2009)
   PUBMED   19922875
REFERENCE   9  (residues 1 to 1362)
  AUTHORS   Gomez TS and Billadeau DD.
  TITLE     A FAM21-containing WASH complex regulates retromer-dependent
            sorting
  JOURNAL   Dev Cell 17 (5), 699-711 (2009)
   PUBMED   19922874
  REMARK    GeneRIF: WASH exists in a multiprotein complex containing FAM21,
            which links WASH to endosomes and is required for WASH-dependent
            retromer-mediated sorting.
REFERENCE   10 (residues 1 to 1362)
  AUTHORS   Huang CY, Lu TY, Bair CH, Chang YS, Jwo JK and Chang W.
  TITLE     A novel cellular protein, VPEF, facilitates vaccinia virus
            penetration into HeLa cells through fluid phase endocytosis
  JOURNAL   J Virol 82 (16), 7988-7999 (2008)
   PUBMED   18550675
  REMARK    GeneRIF: a cellular factor, VPEF, is exploited by vaccinia virus
            for cell entry through fluid phase endocytosis when vaccinia virus
            enters HeLa cells
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL645998.10, AL731535.6 and AC012044.15.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.191877.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1362
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     Protein         1..1362
                     /product="WASH complex subunit 2C isoform 7"
                     /note="WASH complex subunit FAM21C; vaccinia virus
                     penetration factor; family with sequence similarity 21
                     member C"
                     /calculated_mol_wt=149651
     Region          964..1101
                     /region_name="CAP-ZIP_m"
                     /note="WASH complex subunit CAP-Z interacting, central
                     region; pfam15255"
                     /db_xref="CDD:434577"
     CDS             1..1362
                     /gene="WASHC2C"
                     /gene_synonym="FAM21A; FAM21C; VPEF"
                     /coded_by="NM_001367395.1:53..4141"
                     /note="isoform 7 is encoded by transcript variant 7"
                     /db_xref="GeneID:253725"
                     /db_xref="HGNC:HGNC:23414"
                     /db_xref="MIM:613631"
ORIGIN      
        1 mmnrttpdqe lvpasepvwe rpwsveeirr ssqswslaad agllqflqef sqqtisrthe
       61 ikkqvdglir etkatdcrlh nvfndflmls ntqfienrvy deeveepvlk aeaekteqek
      121 treqkevdli pkvqeavnyg lqvldsafeq ldikagnsds eeddangrve lilepkdlyi
      181 drplpyligs klfmeqedvg lgelsseegs vgsdrgsivd teeekeeees dedfahhsdn
      241 eqnqhttqms deeedddgcd lfadsekeee diedieentr pkrsrptsfa delaarikgd
      301 amgrvdeept neednlfapp kltdedfspf gsggglfsgg kglfddedee sdlfteasqd
      361 rqagasvkee sssskpgkki pagavsvflg dtdvfgaasv pslkepqkpe qptprkspyg
      421 ppptglfddd dgdddddffs aphskpsktr kvqstadifg deegdlfkek avaspeatvs
      481 qtdenkarae kkvtlsyskn lkpssetktq kglfsdeeds edlfssqsas nlkgasllpg
      541 klptsvslfd dedeednlfg gtaakkqtls lqaqreekak aselskkkas allfssdeed
      601 qwnipasqth lasdsrskge prdsgtlqsq eakavkktsl feedkeddlf aiakdrnafs
      661 apdtsylllf pklsvkfcvw kvihtfirsq kklythkkkl sqkktqrvsl lfeddvdsgg
      721 slfgspptsv ppatkkketv seappllfsd eeekeaqlgv ksvdkkvesa keslkfgrtd
      781 vaesekegll trsaqetvkh sdlfsssspw dkgtkprtkt vlslfdeeed kmedqniiqa
      841 pqkevgkgcd pdahpkstgv fqdeellfsh klqkdndpdv dlfagtkktk llepsvgslf
      901 gddedddlfs saksqplvqe kkrvvkkdhs vnsfknqkhp esiqgskekg iwkpetpqds
      961 sglapfktke pstrigkiqa nlainpaall ptaasqisev kpvlpelafp ssehrrshgl
     1021 esvpvlpgsg eagvsfdlpa qadtlhsank srvkmrgkrr pqtraarrla aqesseaedm
     1081 svprgpiaqw adgaispngh rpqlraasge dsteealaaa aapweggpvp gvdtspfaks
     1141 lghsrgeadl fdsgdifstg tgsqsvertk pkakiaenpa nppvggkaks pmfpalgeas
     1201 sdddlfqsak pkpakktnpf pllededdlf tdqkvkknet ksssqqdvil ttqdifeddi
     1261 fateaikpsq ktrekektle snlfddnidi fadltvkpke kskkkveaks ifdddmddif
     1321 stgiqakttk pksrsaqaap eprfehkvsn ifddplnafg gq
//
LOCUS       NP_002929                190 aa            linear   PRI 25-DEC-2022
DEFINITION  E3 ubiquitin-protein ligase RNF4 isoform 1 [Homo sapiens].
ACCESSION   NP_002929
VERSION     NP_002929.1
DBSOURCE    REFSEQ: accession NM_002938.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 190)
  AUTHORS   Huang J, Yang W, Jiang K, Liu Y, Tan X and Luo J.
  TITLE     RNF4 promotes tumorigenesis, therapy resistance of
            cholangiocarcinoma and affects cell cycle by regulating the
            ubiquitination degradation of p27kip1 in the nucleus
  JOURNAL   Exp Cell Res 419 (1), 113295 (2022)
   PUBMED   35926659
  REMARK    GeneRIF: RNF4 promotes tumorigenesis, therapy resistance of
            cholangiocarcinoma and affects cell cycle by regulating the
            ubiquitination degradation of p27kip1 in the nucleus.
REFERENCE   2  (residues 1 to 190)
  AUTHORS   Novak R, Ahmad YA, Timaner M, Bitman-Lotan E, Oknin-Vaisman A,
            Horwitz R, Hartmann O, Reissland M, Buck V, Rosenfeldt M, Nikomarov
            D, Diefenbacher ME, Shaked Y and Orian A.
  TITLE     RNF4 RGMb BMP6 axis required for osteogenic differentiation and
            cancer cell survival
  JOURNAL   Cell Death Dis 13 (9), 820 (2022)
   PUBMED   36153321
  REMARK    GeneRIF: RNF4~RGMb~BMP6 axis required for osteogenic
            differentiation and cancer cell survival.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 190)
  AUTHORS   Huang X, Yang Y, Zhu D, Zhao Y, Wei M, Li K, Zhu HH and Zheng X.
  TITLE     PRMT5-mediated RNF4 methylation promotes therapeutic resistance of
            APL cells to As2O3 by stabilizing oncoprotein PML-RARalpha
  JOURNAL   Cell Mol Life Sci 79 (6), 319 (2022)
   PUBMED   35622143
  REMARK    GeneRIF: PRMT5-mediated RNF4 methylation promotes therapeutic
            resistance of APL cells to As2O3 by stabilizing oncoprotein
            PML-RARalpha.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 190)
  AUTHORS   Lv B, Pan Y, Hou D, Chen P, Zhang J, Chu Y, Li M, Zeng Y, Yang D
            and Liu J.
  TITLE     RNF4 silencing induces cell growth arrest and DNA damage by
            promoting nuclear targeting of p62 in hepatocellular carcinoma
  JOURNAL   Oncogene 41 (16), 2275-2286 (2022)
   PUBMED   35236966
  REMARK    GeneRIF: RNF4 silencing induces cell growth arrest and DNA damage
            by promoting nuclear targeting of p62 in hepatocellular carcinoma.
REFERENCE   5  (residues 1 to 190)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   6  (residues 1 to 190)
  AUTHORS   Fedele M, Benvenuto G, Pero R, Majello B, Battista S, Lembo F,
            Vollono E, Day PM, Santoro M, Lania L, Bruni CB, Fusco A and
            Chiariotti L.
  TITLE     A novel member of the BTB/POZ family, PATZ, associates with the
            RNF4 RING finger protein and acts as a transcriptional repressor
  JOURNAL   J Biol Chem 275 (11), 7894-7901 (2000)
   PUBMED   10713105
REFERENCE   7  (residues 1 to 190)
  AUTHORS   Poukka H, Aarnisalo P, Santti H, Janne OA and Palvimo JJ.
  TITLE     Coregulator small nuclear RING finger protein (SNURF) enhances Sp1-
            and steroid receptor-mediated transcription by different mechanisms
  JOURNAL   J Biol Chem 275 (1), 571-579 (2000)
   PUBMED   10617653
REFERENCE   8  (residues 1 to 190)
  AUTHORS   Moilanen AM, Poukka H, Karvonen U, Hakli M, Janne OA and Palvimo
            JJ.
  TITLE     Identification of a novel RING finger protein as a coregulator in
            steroid receptor-mediated gene transcription
  JOURNAL   Mol Cell Biol 18 (9), 5128-5139 (1998)
   PUBMED   9710597
REFERENCE   9  (residues 1 to 190)
  AUTHORS   Hadano S, Ishida Y and Ikeda JE.
  TITLE     The primary structure and genomic organization of five novel
            transcripts located close to the Huntington's disease gene on human
            chromosome 4p16.3
  JOURNAL   DNA Res 5 (3), 177-186 (1998)
   PUBMED   9734812
REFERENCE   10 (residues 1 to 190)
  AUTHORS   Chiariotti L, Benvenuto G, Fedele M, Santoro M, Simeone A, Fusco A
            and Bruni CB.
  TITLE     Identification and characterization of a novel RING-finger gene
            (RNF4) mapping at 4p16.3
  JOURNAL   Genomics 47 (2), 258-265 (1998)
   PUBMED   9479498
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA342512.1, AB000468.1,
            U95140.1 and BX322586.11.
            
            Summary: The protein encoded by this gene contains a RING finger
            motif and acts as a transcription regulator. This protein has been
            shown to interact with, and inhibit the activity of, TRPS1, a
            transcription suppressor of GATA-mediated transcription.
            Transcription repressor ZNF278/PATZ is found to interact with this
            protein, and thus reduce the enhancement of androgen
            receptor-dependent transcription mediated by this protein. Studies
            of the mouse and rat counterparts suggested a role of this protein
            in spermatogenesis. A pseudogene of this gene is found on
            chromosome 1.[provided by RefSeq, Jul 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same isoform (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1057758.1,
                                           SRR3476690.759234.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314289.13/ ENSP00000315212.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..190
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     Protein         1..190
                     /product="E3 ubiquitin-protein ligase RNF4 isoform 1"
                     /EC_number="2.3.2.27"
                     /note="small nuclear RING finger protein; E3 ubiquitin
                     ligase RNF4; E3 ubiquitin-protein ligase RNF4; RING-type
                     E3 ubiquitin transferase RNF4"
                     /calculated_mol_wt=21188
     Region          1..29
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P78317.1)"
     Region          1..16
                     /region_name="Required for ubiquitination activity.
                     /evidence=ECO:0000250|UniProtKB:Q9QZS2"
                     /note="propagated from UniProtKB/Swiss-Prot (P78317.1)"
     Region          4..61
                     /region_name="Mediates interaction with TRPS1.
                     /evidence=ECO:0000250|UniProtKB:Q9QZS2"
                     /note="propagated from UniProtKB/Swiss-Prot (P78317.1)"
     Region          36..39
                     /region_name="SUMO interaction motif 1.
                     /evidence=ECO:0000269|PubMed:18408734"
                     /note="propagated from UniProtKB/Swiss-Prot (P78317.1)"
     Region          46..49
                     /region_name="SUMO interaction motif 2.
                     /evidence=ECO:0000269|PubMed:18408734"
                     /note="propagated from UniProtKB/Swiss-Prot (P78317.1)"
     Region          57..59
                     /region_name="SUMO interaction motif 3.
                     /evidence=ECO:0000269|PubMed:18408734"
                     /note="propagated from UniProtKB/Swiss-Prot (P78317.1)"
     Region          67..70
                     /region_name="SUMO interaction motif 4.
                     /evidence=ECO:0000269|PubMed:18408734"
                     /note="propagated from UniProtKB/Swiss-Prot (P78317.1)"
     Site            94
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P78317.1)"
     Site            95
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P78317.1)"
     Region          127..183
                     /region_name="RING-HC_RNF4"
                     /note="RING finger, HC subclass, found in RING finger
                     protein 4 (RNF4) and similar proteins; cd16533"
                     /db_xref="CDD:438195"
     Site            order(127,156,174..177)
                     /site_type="other"
                     /note="ubiquitin binding site [polypeptide binding]"
                     /db_xref="CDD:438195"
     Site            order(133..137,141,162,165..166,169,174,177)
                     /site_type="other"
                     /note="E2 binding site [polypeptide binding]"
                     /db_xref="CDD:438195"
     CDS             1..190
                     /gene="RNF4"
                     /gene_synonym="RES4-26; SLX5; SNURF"
                     /coded_by="NM_002938.5:311..883"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS47001.1"
                     /db_xref="GeneID:6047"
                     /db_xref="HGNC:HGNC:10067"
                     /db_xref="MIM:602850"
ORIGIN      
        1 mstrkrrgga insrqaqkrt reatstpeis leaepielve tagdeivdlt ceslepvvvd
       61 lthndsvviv derrrprrna rrlpqdhads cvvssddeel srdrdvyvtt htprnardeg
      121 atglrpsgtv scpicmdgys eivqngrliv stecghvfcs qclrdslkna ntcptcrkki
      181 nhkryhpiyi
//
LOCUS       NP_057584                233 aa            linear   PRI 25-DEC-2022
DEFINITION  protein PBDC1 isoform 1 [Homo sapiens].
ACCESSION   NP_057584
VERSION     NP_057584.2
DBSOURCE    REFSEQ: accession NM_016500.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 233)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   2  (residues 1 to 233)
  AUTHORS   Cheng J, Kapranov P, Drenkow J, Dike S, Brubaker S, Patel S, Long
            J, Stern D, Tammana H, Helt G, Sementchenko V, Piccolboni A,
            Bekiranov S, Bailey DK, Ganesh M, Ghosh S, Bell I, Gerhard DS and
            Gingeras TR.
  TITLE     Transcriptional maps of 10 human chromosomes at 5-nucleotide
            resolution
  JOURNAL   Science 308 (5725), 1149-1154 (2005)
   PUBMED   15790807
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC001220.1, AI919559.1 and AC233281.2.
            On Jun 27, 2003 this sequence version replaced NP_057584.1.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.392684.1,
                                           SRR7346977.516230.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373358.8/ ENSP00000362456.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..233
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.3"
     Protein         1..233
                     /product="protein PBDC1 isoform 1"
                     /note="UPF0368 protein Cxorf26; polysaccharide
                     biosynthesis domain-containing protein 1; protein PBDC1"
                     /calculated_mol_wt=25926
     Region          35..159
                     /region_name="Polysacc_synt_4"
                     /note="Polysaccharide biosynthesis; pfam04669"
                     /db_xref="CDD:368048"
     Site            126
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (Q9BVG4.1)"
     Region          167..233
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BVG4.1)"
     Site            181
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BVG4.1)"
     Site            197
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18318008,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BVG4.1)"
     CDS             1..233
                     /gene="PBDC1"
                     /gene_synonym="CXorf26"
                     /coded_by="NM_016500.5:78..779"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS14432.1"
                     /db_xref="GeneID:51260"
                     /db_xref="HGNC:HGNC:28790"
ORIGIN      
        1 maatsgtdep vsgelvsvah alslpaesyg ndpdiemawa mramqhaevy yklissvdpq
       61 flkltkvddq iysefrknfe tlridvldpe elksesakek wrpfclkfng ivedfnygtl
      121 lrldcsqgyt eentifapri qffaieiarn regynkavyi svqdkegekg vnnggekrad
      181 sgeeentkng gekgadsgee keeginredk tdkggekgke adkeinksge kam
//
LOCUS       NP_001106677              74 aa            linear   PRI 26-DEC-2022
DEFINITION  thiosulfate:glutathione sulfurtransferase isoform 2 [Homo sapiens].
ACCESSION   NP_001106677
VERSION     NP_001106677.1
DBSOURCE    REFSEQ: accession NM_001113206.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 74)
  AUTHORS   Libiad M, Motl N, Akey DL, Sakamoto N, Fearon ER, Smith JL and
            Banerjee R.
  TITLE     Thiosulfate sulfurtransferase-like domain-containing 1 protein
            interacts with thioredoxin
  JOURNAL   J Biol Chem 293 (8), 2675-2686 (2018)
   PUBMED   29348167
  REMARK    GeneRIF: Data suggest that TSTD1 can utilize thioredoxin as an
            acceptor in the presence of thioredoxin reductase and NADPH.
REFERENCE   2  (residues 1 to 74)
  AUTHORS   Schlittler M, Goiny M, Agudelo LZ, Venckunas T, Brazaitis M,
            Skurvydas A, Kamandulis S, Ruas JL, Erhardt S, Westerblad H and
            Andersson DC.
  TITLE     Endurance exercise increases skeletal muscle kynurenine
            aminotransferases and plasma kynurenic acid in humans
  JOURNAL   Am J Physiol Cell Physiol 310 (10), C836-C840 (2016)
   PUBMED   27030575
  REMARK    GeneRIF: Endurance exercise caused an increase in plasma KYNA
            within the first hour after exercise. In contrast, a bout of
            high-intensity eccentric exercise did not lead to increased plasma
            KYNA concentration. Our results show that regular endurance
            exercise causes adaptations in kynurenine metabolism which can have
            implications for exercise recommendations for patients with
            depressive disorder.
REFERENCE   3  (residues 1 to 74)
  AUTHORS   Melideo SL, Jackson MR and Jorns MS.
  TITLE     Biosynthesis of a central intermediate in hydrogen sulfide
            metabolism by a novel human sulfurtransferase and its yeast
            ortholog
  JOURNAL   Biochemistry 53 (28), 4739-4753 (2014)
   PUBMED   24981631
  REMARK    GeneRIF: Biosynthesis of a central intermediate in hydrogen sulfide
            metabolism by a novel human sulfurtransferase and its yeast
            ortholog.
REFERENCE   4  (residues 1 to 74)
  AUTHORS   Rejdak R, Rummelt C, Zrenner E, Grieb P, Rejdak K, Okuno E, Thaler
            S, Nowomiejska K, Kruse F, Turski W and Junemann AG.
  TITLE     Presence of L-kynurenine aminotransferase III in retinal ganglion
            cells and corpora amylacea in the human retina and optic nerve
  JOURNAL   Folia Neuropathol 49 (2), 132-137 (2011)
   PUBMED   21845542
  REMARK    GeneRIF: The presence of kynurenine aminotransferase III in Corpora
            amylacea in the human retina and optic nerve indicates that this
            enzyme may be relevant in mechanisms of neurodegeneration leading
            to Corpora amylaceaformation.
REFERENCE   5  (residues 1 to 74)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   6  (residues 1 to 74)
  AUTHORS   Wenzel K, Felix SB, Flachmeier C, Heere P, Schulze W, Grunewald I,
            Pankow H, Hewelt A, Scherneck S, Bauer D and Hoehe MR.
  TITLE     Identification and characterization of KAT, a novel gene
            preferentially expressed in several human cancer cell lines
  JOURNAL   Biol Chem 384 (5), 763-775 (2003)
   PUBMED   12817473
REFERENCE   7  (residues 1 to 74)
  AUTHORS   Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR
            and Vandekerckhove J.
  TITLE     Exploring proteomes and analyzing protein processing by mass
            spectrometric identification of sorted N-terminal peptides
  JOURNAL   Nat Biotechnol 21 (5), 566-569 (2003)
   PUBMED   12665801
REFERENCE   8  (residues 1 to 74)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Behal A, Touchman JW, Bouffard G,
            Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and
            splice variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 74)
  AUTHORS   Gupta SK, Pillarisetti K and Ohlstein EH.
  TITLE     Platelet agonist F11 receptor is a member of the immunoglobulin
            superfamily and identical with junctional adhesion molecule (JAM):
            regulation of expression in human endothelial cells and macrophages
  JOURNAL   IUBMB Life 50 (1), 51-56 (2000)
   PUBMED   11087121
REFERENCE   10 (residues 1 to 74)
  AUTHORS   Ozaki H, Ishii K, Horiuchi H, Arai H, Kawamoto T, Okawa K, Iwamatsu
            A and Kita T.
  TITLE     Cutting edge: combined treatment of TNF-alpha and IFN-gamma causes
            redistribution of junctional adhesion molecule in human endothelial
            cells
  JOURNAL   J Immunol 163 (2), 553-557 (1999)
   PUBMED   10395639
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AV688621.1 and CD675389.1.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1, that results a
            shorter protein (isoform 2), compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.547953.1, CD173958.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence (PMID:
                                                12665801)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..74
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     Protein         1..74
                     /product="thiosulfate:glutathione sulfurtransferase
                     isoform 2"
                     /EC_number="2.8.1.1"
                     /note="putative thiosulfate sulfurtransferase KAT;
                     thiosulfate sulfurtransferase/rhodanese-like
                     domain-containing protein 1; thiosulfate sulfurtransferase
                     (rhodanese)-like domain containing 1;
                     thiosulfate:glutathione sulfurtransferase"
                     /calculated_mol_wt=8143
     Region          <4..71
                     /region_name="RHOD"
                     /note="Rhodanese Homology Domain (RHOD); an alpha beta
                     fold domain found duplicated in the rhodanese protein. The
                     cysteine containing enzymatically active version of the
                     domain is also found in the Cdc25 class of protein
                     phosphatases and a variety of proteins...; cl00125"
                     /db_xref="CDD:444705"
     Site            38
                     /site_type="active"
                     /note="active site residue [active]"
                     /db_xref="CDD:238089"
     CDS             1..74
                     /gene="TSTD1"
                     /gene_synonym="KAT; TST"
                     /coded_by="NM_001113206.2:76..300"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS44257.1"
                     /db_xref="GeneID:100131187"
                     /db_xref="HGNC:HGNC:35410"
                     /db_xref="MIM:616041"
ORIGIN      
        1 magvselesa lqmepaafqa lysaekpkle dehlvffcqm gkrglqatql arslgytgar
       61 nyagayrewl ekes
//
LOCUS       NP_001333314             276 aa            linear   PRI 27-DEC-2022
DEFINITION  diphthine methyltransferase isoform g [Homo sapiens].
ACCESSION   NP_001333314 XP_016870790
VERSION     NP_001333314.1
DBSOURCE    REFSEQ: accession NM_001346385.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 276)
  AUTHORS   Wei H, Bera TK, Wayne AS, Xiang L, Colantonio S, Chertov O and
            Pastan I.
  TITLE     A modified form of diphthamide causes immunotoxin resistance in a
            lymphoma cell line with a deletion of the WDR85 gene
  JOURNAL   J Biol Chem 288 (17), 12305-12312 (2013)
   PUBMED   23486472
REFERENCE   2  (residues 1 to 276)
  AUTHORS   Zhang F, Baumer N, Rode M, Ji P, Zhang T, Berdel WE and
            Muller-Tidow C.
  TITLE     The inhibitor of growth protein 5 (ING5) depends on INCA1 as a
            co-factor for its antiproliferative effects
  JOURNAL   PLoS One 6 (7), e21505 (2011)
   PUBMED   21750715
REFERENCE   3  (residues 1 to 276)
  AUTHORS   Carette JE, Guimaraes CP, Varadarajan M, Park AS, Wuethrich I,
            Godarova A, Kotecki M, Cochran BH, Spooner E, Ploegh HL and
            Brummelkamp TR.
  TITLE     Haploid genetic screens in human cells identify host factors used
            by pathogens
  JOURNAL   Science 326 (5957), 1231-1235 (2009)
   PUBMED   19965467
REFERENCE   4  (residues 1 to 276)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL365502.57 and AA252248.1.
            On Oct 7, 2016 this sequence version replaced XP_016870790.1.
            
            Summary: Diphthamide is a post-translationally modified histidine
            residue present in elongation factor 2, and is the target of
            diphtheria toxin. This gene encodes a protein that contains a WD-40
            domain, and is thought to be involved in diphthamide biosynthesis.
            A similar protein in yeast functions as a methylesterase,
            converting methylated diphthine to diphthine, which can then
            undergo amidation to produce diphthamide. [provided by RefSeq, Oct
            2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.124430.1,
                                           SRR1660809.255100.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..276
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     Protein         1..276
                     /product="diphthine methyltransferase isoform g"
                     /EC_number="3.1.1.97"
                     /note="WD repeat-containing protein 85; diphthine
                     methyltransferase"
                     /calculated_mol_wt=31159
     Region          22..61
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <23..>138
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          66..103
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          110..150
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          155..192
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..276
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /coded_by="NM_001346385.2:914..1744"
                     /note="isoform g is encoded by transcript variant 17"
                     /db_xref="GeneID:92715"
                     /db_xref="HGNC:HGNC:25199"
                     /db_xref="MIM:613210"
ORIGIN      
        1 mvnetrprlq kvaswqahqf eawiaafnyw hpeivysggd dgllrgwdtr vpgkflftsk
       61 rhtmgvcsiq ssphrehila tgsydehill wdtrnmkqpl adtpvqggvw rikwhpfhhh
      121 lllaacmhsg fkilncqkam eerqeatvlt shtlpdslvy gadwswllfr slqrapswsf
      181 psnlgtktad lkgaselptp checredndg egharpqsgm kpltegmrkn gtwlqataat
      241 trdcgvnpee adsafsllat csfydhalhl wewegn
//
LOCUS       NP_001317393             356 aa            linear   PRI 27-DEC-2022
DEFINITION  atlastin-2 isoform 9 [Homo sapiens].
ACCESSION   NP_001317393 XP_016860177
VERSION     NP_001317393.1
DBSOURCE    REFSEQ: accession NM_001330464.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 356)
  AUTHORS   Crosby D, Mikolaj MR, Nyenhuis SB, Bryce S, Hinshaw JE and Lee TH.
  TITLE     Reconstitution of human atlastin fusion activity reveals
            autoinhibition by the C terminus
  JOURNAL   J Cell Biol 221 (2) (2022)
   PUBMED   34817557
  REMARK    GeneRIF: Reconstitution of human atlastin fusion activity reveals
            autoinhibition by the C terminus.
REFERENCE   2  (residues 1 to 356)
  AUTHORS   Liu N, Zhao H, Zhao YG, Hu J and Zhang H.
  TITLE     Atlastin 2/3 regulate ER targeting of the ULK1 complex to initiate
            autophagy
  JOURNAL   J Cell Biol 220 (7) (2021)
   PUBMED   33988678
  REMARK    GeneRIF: Atlastin 2/3 regulate ER targeting of the ULK1 complex to
            initiate autophagy.
REFERENCE   3  (residues 1 to 356)
  AUTHORS   Zhao G, Zhu PP, Renvoise B, Maldonado-Baez L, Park SH and
            Blackstone C.
  TITLE     Mammalian knock out cells reveal prominent roles for atlastin
            GTPases in ER network morphology
  JOURNAL   Exp Cell Res 349 (1), 32-44 (2016)
   PUBMED   27669642
REFERENCE   4  (residues 1 to 356)
  AUTHORS   Wang S, Tukachinsky H, Romano FB and Rapoport TA.
  TITLE     Cooperation of the ER-shaping proteins atlastin, lunapark, and
            reticulons to generate a tubular membrane network
  JOURNAL   Elife 5, e18605 (2016)
   PUBMED   27619977
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 356)
  AUTHORS   Hu X, Wu F, Sun S, Yu W and Hu J.
  TITLE     Human atlastin GTPases mediate differentiated fusion of endoplasmic
            reticulum membranes
  JOURNAL   Protein Cell 6 (4), 307-311 (2015)
   PUBMED   25773277
  REMARK    GeneRIF: These results suggest that the three ATLs have different
            capacities to mediate endoplasmic reticulum fusion, with ATL1 being
            the strongest and ATL3 being the weakest.
REFERENCE   6  (residues 1 to 356)
  AUTHORS   Chang J, Lee S and Blackstone C.
  TITLE     Protrudin binds atlastins and endoplasmic reticulum-shaping
            proteins and regulates network formation
  JOURNAL   Proc Natl Acad Sci U S A 110 (37), 14954-14959 (2013)
   PUBMED   23969831
REFERENCE   7  (residues 1 to 356)
  AUTHORS   Morin-Leisk J, Saini SG, Meng X, Makhov AM, Zhang P and Lee TH.
  TITLE     An intramolecular salt bridge drives the soluble domain of
            GTP-bound atlastin into the postfusion conformation
  JOURNAL   J Cell Biol 195 (4), 605-615 (2011)
   PUBMED   22065636
  REMARK    GeneRIF: The role of GTP hydrolysis in the ATL2 fusion mechanism
            also needs to be tempered by the uncertainty of whether the
            behavior of the ATL2 soluble domain, observed herein, reflects the
            behavior of the full-length, membrane-anchored protein.
REFERENCE   8  (residues 1 to 356)
  AUTHORS   Hu J, Shibata Y, Zhu PP, Voss C, Rismanchi N, Prinz WA, Rapoport TA
            and Blackstone C.
  TITLE     A class of dynamin-like GTPases involved in the generation of the
            tubular ER network
  JOURNAL   Cell 138 (3), 549-561 (2009)
   PUBMED   19665976
REFERENCE   9  (residues 1 to 356)
  AUTHORS   Rismanchi N, Soderblom C, Stadler J, Zhu PP and Blackstone C.
  TITLE     Atlastin GTPases are required for Golgi apparatus and ER
            morphogenesis
  JOURNAL   Hum Mol Genet 17 (11), 1591-1604 (2008)
   PUBMED   18270207
  REMARK    GeneRIF: A family of human GTPases, atlastin-2 and -3 that are
            closely related to atlastin-1 are described.
REFERENCE   10 (residues 1 to 356)
  AUTHORS   Ingley E, Williams JH, Walker CE, Tsai S, Colley S, Sayer MS,
            Tilbrook PA, Sarna M, Beaumont JG and Klinken SP.
  TITLE     A novel ADP-ribosylation like factor (ARL-6), interacts with the
            protein-conducting channel SEC61beta subunit
  JOURNAL   FEBS Lett 459 (1), 69-74 (1999)
   PUBMED   10508919
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC016995.7.
            On Aug 29, 2016 this sequence version replaced XP_016860177.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.269500.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..356
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.2-p22.1"
     Protein         1..356
                     /product="atlastin-2 isoform 9"
                     /note="ARL-6-interacting protein 2; ADP-ribosylation
                     factor-like protein 6-interacting protein 2"
                     /calculated_mol_wt=40543
     Region          <1..114
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            17..20
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206648"
     Site            70..72
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206648"
     CDS             1..356
                     /gene="ATL2"
                     /gene_synonym="aip-2; ARL3IP2; ARL6IP2; atlastin2"
                     /coded_by="NM_001330464.2:1991..3061"
                     /note="isoform 9 is encoded by transcript variant 10"
                     /db_xref="GeneID:64225"
                     /db_xref="HGNC:HGNC:24047"
                     /db_xref="MIM:609368"
ORIGIN      
        1 meeiyqkpfq tlmflirdws ypyehsygle ggkqflekrl qvkqnqheel qnvrkhihnc
       61 fsnlgcfllp hpglkvatnp sfdgrlkdid edfkrelrnl vplllapenl vekeisgskv
      121 tcrdlveyfk ayikiyqgee lphpksmlqa taeannlaav agardtycks meqvcggdkp
      181 yiapsdlerk hldlkevaik qfrsvkkmgg defcrryqdq leaeieetya nfikhndgkn
      241 ifyaartpat lfavmfamyi isgltgfigl nsiavlcnlv mglaliflct wayvkysgef
      301 reigtvidqi aetlweqvlk plgdnlmeen irqsvtnsik agltdqvshh arlktd
//
LOCUS       NP_001362346            2037 aa            linear   PRI 27-DEC-2022
DEFINITION  multiple PDZ domain protein isoform 2 [Homo sapiens].
ACCESSION   NP_001362346
VERSION     NP_001362346.1
DBSOURCE    REFSEQ: accession NM_001375417.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2037)
  AUTHORS   Yuan S, Li D, Ma M, Zhou L, Ma Z, Shi B, Zhang S, Li H, Sheng X and
            Liu J.
  TITLE     Evaluating the association between MPDZ-NF1B rs1324183 and
            keratoconus in an independent northwestern Chinese population
  JOURNAL   BMC Ophthalmol 22 (1), 129 (2022)
   PUBMED   35305607
  REMARK    GeneRIF: Evaluating the association between MPDZ-NF1B rs1324183 and
            keratoconus in an independent northwestern Chinese population.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 2037)
  AUTHORS   Bharadwaj T, Schrauwen I, Rehman S, Liaqat K, Acharya A, Giese APJ,
            Nouel-Saied LM, Nasir A, Everard JL, Pollock LM, Zhu S, Bamshad MJ,
            Nickerson DA, Ali RH, Ullah A, Wali A, Ali G, Santos-Cortez RLP,
            Ahmed ZM, McDermott BM Jr, Ansar M, Riazuddin S, Ahmad W and Leal
            SM.
  TITLE     ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal
            recessive nonsyndromic hearing impairment
  JOURNAL   Eur J Hum Genet 30 (1), 22-33 (2022)
   PUBMED   34135477
  REMARK    GeneRIF: ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for
            autosomal recessive nonsyndromic hearing impairment.
REFERENCE   3  (residues 1 to 2037)
  AUTHORS   Liu W, Huang Y, Wang D, Han F, Chen H, Chen J, Jiang X, Cao J and
            Liu J.
  TITLE     MPDZ as a novel epigenetic silenced tumor suppressor inhibits
            growth and progression of lung cancer through the Hippo-YAP pathway
  JOURNAL   Oncogene 40 (26), 4468-4485 (2021)
   PUBMED   34108620
  REMARK    GeneRIF: MPDZ as a novel epigenetic silenced tumor suppressor
            inhibits growth and progression of lung cancer through the
            Hippo-YAP pathway.
REFERENCE   4  (residues 1 to 2037)
  AUTHORS   Moazzeni H, Javadi MA, Asgari D, Khani M, Emami M, Moghadam A,
            Panahi-Bazaz MR, Hosseini Tehrani M, Karimian F, Hosseini B, Nekuie
            Moghadam T, Hassanpour H, Akbari MT and Elahi E.
  TITLE     Observation of nine previously reported and 10 non-reported SLC4A11
            mutations among 20 Iranian CHED probands and identification of an
            MPDZ mutation as possible cause of CHED and FECD in one family
  JOURNAL   Br J Ophthalmol 104 (11), 1621-1628 (2020)
   PUBMED   31420327
  REMARK    GeneRIF: Observation of nine previously reported and 10
            non-reported SLC4A11 mutations among 20 Iranian CHED probands and
            identification of an MPDZ mutation as possible cause of CHED and
            FECD in one family.
REFERENCE   5  (residues 1 to 2037)
  AUTHORS   Marivin A and Garcia-Marcos M.
  TITLE     DAPLE and MPDZ bind to each other and cooperate to promote apical
            cell constriction
  JOURNAL   Mol Biol Cell 30 (16), 1900-1910 (2019)
   PUBMED   31268831
  REMARK    GeneRIF: DAPLE and MPDZ function as cooperative partners at apical
            junctions.
REFERENCE   6  (residues 1 to 2037)
  AUTHORS   Becamel C, Figge A, Poliak S, Dumuis A, Peles E, Bockaert J,
            Lubbert H and Ullmer C.
  TITLE     Interaction of serotonin 5-hydroxytryptamine type 2C receptors with
            PDZ10 of the multi-PDZ domain protein MUPP1
  JOURNAL   J Biol Chem 276 (16), 12974-12982 (2001)
   PUBMED   11150294
REFERENCE   7  (residues 1 to 2037)
  AUTHORS   Lee SS, Glaunsinger B, Mantovani F, Banks L and Javier RT.
  TITLE     Multi-PDZ domain protein MUPP1 is a cellular target for both
            adenovirus E4-ORF1 and high-risk papillomavirus type 18 E6
            oncoproteins
  JOURNAL   J Virol 74 (20), 9680-9693 (2000)
   PUBMED   11000240
REFERENCE   8  (residues 1 to 2037)
  AUTHORS   Mancini A, Koch A, Stefan M, Niemann H and Tamura T.
  TITLE     The direct association of the multiple PDZ domain containing
            proteins (MUPP-1) with the human c-Kit C-terminus is regulated by
            tyrosine kinase activity
  JOURNAL   FEBS Lett 482 (1-2), 54-58 (2000)
   PUBMED   11018522
REFERENCE   9  (residues 1 to 2037)
  AUTHORS   Barritt DS, Pearn MT, Zisch AH, Lee SS, Javier RT, Pasquale EB and
            Stallcup WB.
  TITLE     The multi-PDZ domain protein MUPP1 is a cytoplasmic ligand for the
            membrane-spanning proteoglycan NG2
  JOURNAL   J Cell Biochem 79 (2), 213-224 (2000)
   PUBMED   10967549
REFERENCE   10 (residues 1 to 2037)
  AUTHORS   Ullmer C, Schmuck K, Figge A and Lubbert H.
  TITLE     Cloning and characterization of MUPP1, a novel PDZ domain protein
  JOURNAL   FEBS Lett 424 (1-2), 63-68 (1998)
   PUBMED   9537516
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162386.17, AL353639.10,
            AL161449.7 and KF458902.1.
            
            Summary: The protein encoded by this gene has multiple PDZ domains,
            which are hallmarks of protein-protein interactions. The encoded
            protein is known to interact with the HTR2C receptor and may cause
            it to clump at the cell surface. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Aug 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.3467567.1,
                                           SRR14372079.702228.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2037
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p23"
     Protein         1..2037
                     /product="multiple PDZ domain protein isoform 2"
                     /note="multi-PDZ domain protein 1; multiple PDZ domain
                     protein"
                     /calculated_mol_wt=217784
     Region          6..63
                     /region_name="L27_2"
                     /note="pfam09045"
                     /db_xref="CDD:312549"
     Region          139..221
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(147..150,152,205..206,209..210)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Site            230
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75970.2)"
     Region          257..334
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(266..269,271,318..319,322..323)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          374..463
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(386..389,391,444..445,448..449)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Site            483
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O75970.2)"
     Region          560..629
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(564..567,569,615..616,619..620)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          698..784
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(709..712,714,767..768,771..772)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Site            790
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75970.2)"
     Region          1006..1076
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1017..1020,1022,1070..1071,1074..1075)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Site            1078
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75970.2)"
     Region          1121..1140
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75970.2)"
     Region          1149..1240
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1161..1164,1166,1224..1225,1228..1229)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Site            1170
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8VBX6; propagated from
                     UniProtKB/Swiss-Prot (O75970.2)"
     Region          1314..1400
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(1326..1329,1331,1381..1382,1385..1386)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1448..1527
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1459..1462,1464,1512..1513,1516..1517)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1529..1593
                     /region_name="MPDZ_u10"
                     /note="Unstructured region 10 on multiple PDZ protein;
                     pfam16667"
                     /db_xref="CDD:435500"
     Region          1534..1579
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75970.2)"
     Region          1594..1678
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(1605..1608,1610,1660..1661,1664..1665)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1692..1770
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1702..1705,1707,1755..1756,1759..1760)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Site            1785
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75970.2)"
     Site            1791
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O55164; propagated from
                     UniProtKB/Swiss-Prot (O75970.2)"
     Region          1827..1912
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1839..1842,1844,1896..1897,1900..1901)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1953..2036
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1963..1966,1968,2020..2021,2024..2025)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     CDS             1..2037
                     /gene="MPDZ"
                     /gene_synonym="HYC2; MUPP1"
                     /coded_by="NM_001375417.1:424..6537"
                     /note="isoform 2 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS59120.1"
                     /db_xref="GeneID:8777"
                     /db_xref="HGNC:HGNC:7208"
                     /db_xref="MIM:603785"
ORIGIN      
        1 mleaidknra lhaaerlqtk lrergdvane dklsllksvl qsplfsqils lqtsvqqlkd
       61 qvniatsats nieyahvphl spaviptlqn esfllspnng nlealtgpgi phingkpacd
      121 efdqliknma qgrhvevfel lkppsgglgf svvglrsenr gelgifvqei qegsvahrdg
      181 rlketdqila ingqaldqti thqqaisilq kakdtvqlvi argslpqlvs pivsrspsaa
      241 stisahsnpv hwqhmetiel vndgsglgfg iiggkatgvi vktilpggva dqhgrlcsgd
      301 hilkigdtdl agmsseqvaq vlrqcgnrvk lmiargaiee rtaptalgit lsssptstpe
      361 lrvdastqkg eesetfdvel tknvqglgit iagyigdkkl epsgifvksi tkssavehdg
      421 riqigdqiia vdgtnlqgft nqqavevlrh tgqtvlltlm rrgmkqeael msredvtkda
      481 dlspvnasii kenyekdedf lsstrntnil pteeegypll saeieeieda qkqeaalltk
      541 wqrimginye ivvahvskfs ensglgisle atvghhfirs vlpegpvghs gklfsgdell
      601 evngitllge nhqdvvnilk elpievtmvc crrtvppttq seldsldlcd ieltekphvd
      661 lgefigsset edpvlamtda gqsteevqap lamweagiqh ielekgskgl gfsildyqdp
      721 idpastviii rslvpggiae kdgrllpgdr lmfvndvnle nssleeavea lkgapsgtvr
      781 igvakplpls peegyvsake dsflypphsc eeagladkpl fradlalvgt ndadlvdest
      841 fespyspend siystqasil slhgsscgdg lnygsslpss ppkdviensc dpvldlhmsl
      901 eelytqnllq rqdentpsvd ismgpasgft indytpanai eqqyecenti vwteshlpse
      961 vissaelpsv lpdsagkgse ylleqsslac naecvmlqnv skesfertin iakgnsslgm
     1021 tvsankdglg mivrsiihgg aisrdgriai gdcilsinee stisvtnaqa ramlrrhsli
     1081 gpdikityvp aehleefkis lgqqsgrvma ldifssytgr dipelperee gegeeselqn
     1141 taysnwnqpr rvelwrepsk slgisivggr gmgsrlsnge vmrgifikhv ledspagkng
     1201 tlkpgdrive vdgmdlrdas heqaveairk agnpvvfmvq siinrpraps qsesepekap
     1261 lcsvppppps afaemgsdht qssaskisqd vdkedefgys wknirerygt ltgelhmiel
     1321 ekghsglgls lagnkdrsrm svfivgidpn gaagkdgrlq iadelleing qilygrshqn
     1381 assiikcaps kvkiifirnk davnqmavcp gnaveplpsn senlqnkete ptvttsdaav
     1441 dlssfknvqh lelpkdqggl giaiseedtl sgviikslte hgvaatdgrl kvgdqilavd
     1501 deivvgypie kfisllktak mtvkltihae npdsqavpsa agaasgekkn ssqslmvpqs
     1561 gspepesirn tsrsstpaif asdpatcpii pgcettieis kgrtglglsi vggsdtllga
     1621 iiihevyeeg aackdgrlwa gdqilevngi dlrkathdea invlrqtpqr vrltlyrdea
     1681 pykeeevcdt ltielqkkpg kglglsivgk rndtgvfvsd ivkggiadad grlmqgdqil
     1741 mvngedvrna tqeavaallk cslgtvtlev grikagpfhs errpsqssqv segslssftf
     1801 plsgsstses lessskknal aseiqglrtv emkkgptdsl gisiaggvgs plgdvpifia
     1861 mmhptgvaaq tqklrvgdri vticgtsteg mthtqavnll knasgsiemq vvaggdvsvv
     1921 tghqqepass slsftgltss sifqddlgpp qcksitlerg pdglgfsivg gygsphgdlp
     1981 iyvktvfakg aasedgrlkr gdqiiavngq slegvtheea vailkrtkgt vtlmvls
//
LOCUS       NP_001362919             735 aa            linear   PRI 28-DEC-2022
DEFINITION  major facilitator superfamily domain-containing protein 6 isoform b
            [Homo sapiens].
ACCESSION   NP_001362919 XP_005246713
VERSION     NP_001362919.1
DBSOURCE    REFSEQ: accession NM_001375990.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 735)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 735)
  AUTHORS   Docherty SJ, Kovas Y and Plomin R.
  TITLE     Gene-environment interaction in the etiology of mathematical
            ability using SNP sets
  JOURNAL   Behav Genet 41 (1), 141-154 (2011)
   PUBMED   20978832
  REMARK    GeneRIF: Observational study of gene-disease association, gene-gene
            interaction, and gene-environment interaction. (HuGE Navigator)
REFERENCE   3  (residues 1 to 735)
  AUTHORS   Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa
            I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F,
            Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson
            G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ and
            Monaco AP.
  CONSRTM   IMGSAC
  TITLE     High-density SNP association study and copy number variation
            analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4
            gene region in autism susceptibility
  JOURNAL   Mol Psychiatry 15 (9), 954-968 (2010)
   PUBMED   19401682
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 735)
  AUTHORS   Shimizu T, Tashiro-Yamaji J, Hayashi M, Inoue Y, Ibata M, Kubota T,
            Tanigawa N and Yoshida R.
  TITLE     HLA-B62 as a possible ligand for the human homologue of mouse
            macrophage MHC receptor 2 (MMR2) on monocytes
  JOURNAL   Gene 454 (1-2), 31-38 (2010)
   PUBMED   20123006
REFERENCE   5  (residues 1 to 735)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092178.4 and AC093388.4.
            On Nov 7, 2019 this sequence version replaced XP_005246713.1.
            
            Transcript Variant: This variant (6), as well as variants 5 and 7,
            encodes isoform b.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.91615.1,
                                           SRR1803615.156708.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145544, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..735
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     Protein         1..735
                     /product="major facilitator superfamily domain-containing
                     protein 6 isoform b"
                     /note="major facilitator superfamily domain-containing
                     protein 6; macrophage MHC receptor 2; macrophage MHC class
                     I receptor 2 homolog"
                     /calculated_mol_wt=82250
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            10
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Region          22..47
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Region          70..622
                     /region_name="MFS_MFSD6"
                     /note="Major facilitator superfamily domain-containing
                     protein 6; cd17335"
                     /db_xref="CDD:340893"
     Site            73..93
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            order(78..79,82..83,86,118,302..303,305..307,310,328,
                     331..332,335,454,457..458,461..463,466,493,497,546..547,
                     551,555,576,579..580,583..584,587)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:340893"
     Site            105..125
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            132..152
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            286..306
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            335..355
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            369..389
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Region          407..427
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            450..470
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            479..499
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            507..527
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            544..564
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            579..599
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            605..625
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Region          662..687
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     CDS             1..735
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2"
                     /coded_by="NM_001375990.1:203..2410"
                     /note="isoform b is encoded by transcript variant 6"
                     /db_xref="GeneID:54842"
                     /db_xref="HGNC:HGNC:24711"
                     /db_xref="MIM:613476"
ORIGIN      
        1 maddkvailt ddeeeqkrky vladpfngis repeppsnet psstetsaip eeeidwiekh
       61 cvkinndlli skvfyfffys aygslypllp vyykqlgmsp sqsgllvgir yfiefcsapf
      121 wgvvadrfkk gkivllfsll cwvlfnlgig fvkpatlrcv pkirptthpt nashqltilp
      181 tnssftsflt ispkmrekrn lletrlnvsd tvtlptapnm nseptlqpqt geitnrmmdl
      241 tlnsstatpv spgsvtkett tvivtttksl psdqvmlvyd qqeveaiflv ilvvviigef
      301 fsassvtivd tvtlqylgkh rdryglqrmw gslgwglaml svgigidyth ievlidgkgc
      361 kppeyrnyqi vfivfgvlmt malivatqfr frynhfkndd skgkeveipq vernnstess
      421 eetptttshs qafnfwdlik llcsvqygsv lfvawfmgfg ygfvftflyw hledlngttt
      481 lfgvcsvlsh vseltayffs hklielighi rvlyiglacn taryiyisyl enawtvlpme
      541 vlqgvthaai waacisylsa avppelrtsa qgilqglhlg lgrgcgamig gvlvnyfgaa
      601 atfrgigmac lvilllfali qwlavpdeee dktmlaerip vpsspvpiat idlvqqqted
      661 vmprieprlp pkktkhqeeq edvnkpawgv ssspwvtfvy alyqikemmq ltrdnrasei
      721 qplqlhigke mkgdq
//
LOCUS       NP_001005329             313 aa            linear   PRI 28-DEC-2022
DEFINITION  olfactory receptor 51A4 [Homo sapiens].
ACCESSION   NP_001005329
VERSION     NP_001005329.1
DBSOURCE    REFSEQ: accession NM_001005329.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 313)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018375.8.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641898.1/ ENSP00000492963.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..313
                     /product="olfactory receptor 51A4"
                     /calculated_mol_wt=35125
     Site            5
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NGJ6.1)"
     Region          27..300
                     /region_name="7tmA_OR51-like"
                     /note="olfactory receptor family 51 and related proteins,
                     member of the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15222"
                     /db_xref="CDD:320350"
     Region          28..54
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320350"
     Site            28..48
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ6.1)"
     Site            57..77
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ6.1)"
     Region          61..87
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320350"
     Site            order(83,86..87,99..104,106..107,110,155,157..161,197,
                     200..202,204..206,208..209,253,256..257,259..260,263,
                     271..272,274..276,279,282..283)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320350"
     Region          99..129
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320350"
     Site            102..122
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ6.1)"
     Region          142..163
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320350"
     Site            142..162
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ6.1)"
     Region          197..226
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320350"
     Site            199..218
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ6.1)"
     Region          233..263
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320350"
     Site            239..259
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ6.1)"
     Region          272..297
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320350"
     Site            275..295
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ6.1)"
     CDS             1..313
                     /gene="OR51A4"
                     /coded_by="NM_001005329.2:124..1065"
                     /db_xref="CCDS:CCDS31367.1"
                     /db_xref="GeneID:401666"
                     /db_xref="HGNC:HGNC:14795"
ORIGIN      
        1 msiintsyve ittfflvgmp gleyahiwis ipicsmylia ilgngtilfi iktepslhep
       61 myyflsmlam sdlglslssl ptvlsiflfn apeissnacf aqeffihgfs vlessvllim
      121 sfdrflaihn plrytsiltt vrvaqigivf sfksmllvlp fpftlrnlry ckknqlshsy
      181 clhqdvmkla csdnridviy gffgalclmv dfiliavsyt lilktvlgia skkeqlkaln
      241 tcvshicavi ifylpiinla vvhrfarhvs plinvlmanv lllvppltnp ivycvktkqi
      301 rvrvvaklcq rki
//
LOCUS       NP_001317499             343 aa            linear   PRI 28-DEC-2022
DEFINITION  beta-1,4-galactosyltransferase 6 isoform 2 [Homo sapiens].
ACCESSION   NP_001317499 XP_016881577
VERSION     NP_001317499.1
DBSOURCE    REFSEQ: accession NM_001330570.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 343)
  AUTHORS   Yamaji T and Hanada K.
  TITLE     Establishment of HeLa cell mutants deficient in
            sphingolipid-related genes using TALENs
  JOURNAL   PLoS One 9 (2), e88124 (2014)
   PUBMED   24498430
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 343)
  AUTHORS   Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es
            MA, Sapp PC, van Vught PW, McKenna-Yasek DM, Blauw HM, Cho TJ,
            Polak M, Shi L, Wills AM, Broom WJ, Ticozzi N, Silani V, Ozoguz A,
            Rodriguez-Leyva I, Veldink JH, Ivinson AJ, Saris CG, Hosler BA,
            Barnes-Nessa A, Couture N, Wokke JH, Kwiatkowski TJ Jr, Ophoff RA,
            Cronin S, Hardiman O, Diekstra FP, Leigh PN, Shaw CE, Simpson CL,
            Hansen VK, Powell JF, Corcia P, Salachas F, Heath S, Galan P,
            Georges F, Horvitz HR, Lathrop M, Purcell S, Al-Chalabi A and Brown
            RH Jr.
  TITLE     Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3)
            gene increases survival in sporadic amyotrophic lateral sclerosis
  JOURNAL   Proc Natl Acad Sci U S A 106 (22), 9004-9009 (2009)
   PUBMED   19451621
REFERENCE   3  (residues 1 to 343)
  AUTHORS   Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR
            and Vandekerckhove J.
  TITLE     Exploring proteomes and analyzing protein processing by mass
            spectrometric identification of sorted N-terminal peptides
  JOURNAL   Nat Biotechnol 21 (5), 566-569 (2003)
   PUBMED   12665801
REFERENCE   4  (residues 1 to 343)
  AUTHORS   Fan Y, Yu L, Tu Q, Gong R, Jiang Y, Zhang Q, Dai F, Chen C and Zhao
            S.
  TITLE     Molecular cloning, genomic organization, and mapping of beta
            4GalT-VIb, a brain abundant member of beta 4-galactosyltransferase
            gene family, to human chromosome 18q12.1
  JOURNAL   DNA Seq 13 (1), 1-8 (2002)
   PUBMED   12180132
  REMARK    GeneRIF: genomic organization and mapping of beta 4GalT-VIb to
            human chromosome 18q12.1
REFERENCE   5  (residues 1 to 343)
  AUTHORS   Amado M, Almeida R, Schwientek T and Clausen H.
  TITLE     Identification and characterization of large galactosyltransferase
            gene families: galactosyltransferases for all functions
  JOURNAL   Biochim Biophys Acta 1473 (1), 35-53 (1999)
   PUBMED   10580128
  REMARK    Review article
REFERENCE   6  (residues 1 to 343)
  AUTHORS   Takizawa M, Nomura T, Wakisaka E, Yoshizuka N, Aoki J, Arai H,
            Inoue K, Hattori M and Matsuo N.
  TITLE     cDNA cloning and expression of human lactosylceramide synthase
  JOURNAL   Biochim Biophys Acta 1438 (2), 301-304 (1999)
   PUBMED   10320813
REFERENCE   7  (residues 1 to 343)
  AUTHORS   Lo NW, Shaper JH, Pevsner J and Shaper NL.
  TITLE     The expanding beta 4-galactosyltransferase gene family: messages
            from the databanks
  JOURNAL   Glycobiology 8 (5), 517-526 (1998)
   PUBMED   9597550
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC017100.4.
            On Aug 29, 2016 this sequence version replaced XP_016881577.1.
            
            Summary: This gene is one of seven beta-1,4-galactosyltransferase
            (beta4GalT) genes in human. They encode type II membrane-bound
            glycoproteins that appear to have exclusive specificity for the
            donor substrate UDP-galactose; all transfer galactose in a beta1,4
            linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each
            beta4GalT has a distinct function in the biosynthesis of different
            glycoconjugates and saccharide structures. As type II membrane
            proteins, they have an N-terminal hydrophobic signal sequence that
            directs the protein to the Golgi apparatus and which then remains
            uncleaved to function as a transmembrane anchor. This gene produces
            multiple protein isoforms - some of which are predicted to lack the
            N-terminal hydrophobic signal sequence and transmembrane domain. By
            sequence similarity, the beta4GalTs form four groups: beta4GalT1
            and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and
            beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this
            gene is a lactosylceramide synthase important for glycolipid
            biosynthesis. [provided by RefSeq, Jan 2020].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.3943105.1, AF069054.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267763 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..343
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     Protein         1..343
                     /product="beta-1,4-galactosyltransferase 6 isoform 2"
                     /EC_number="2.4.1.274"
                     /note="UDP-Gal:glucosylceramide
                     beta-1,4-galactosyltransferase; beta4GalT-VI;
                     beta-1,4-GalTase 6; UDP-Gal:beta-GlcNAc
                     beta-1,4-galactosyltransferase 6;
                     UDP-galactose:beta-N-acetylglucosamine
                     beta-1,4-galactosyltransferase 6; UDP-Gal:betaGlcNAc beta
                     1,4- galactosyltransferase, polypeptide 6; lacCer
                     synthase; lactosylceramide synthase"
                     /calculated_mol_wt=40329
     Region          116..332
                     /region_name="b4GalT"
                     /note="Beta-4-Galactosyltransferase is involved in the
                     formation of the poly-N-acetyllactosamine core structures
                     present in glycoproteins and glycosphingolipids; cd00899"
                     /db_xref="CDD:132999"
     Site            order(124,126,128,163,189..191)
                     /site_type="active"
                     /note="ligand binding site [active]"
                     /db_xref="CDD:132999"
     Site            order(189,191,284)
                     /site_type="active"
                     /note="metal binding site [active]"
                     /db_xref="CDD:132999"
     CDS             1..343
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /coded_by="NM_001330570.3:156..1187"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS82245.1"
                     /db_xref="GeneID:9331"
                     /db_xref="HGNC:HGNC:929"
                     /db_xref="MIM:604017"
ORIGIN      
        1 msvlrrmmrv snrsllafif ffslssscly fiyvapgidy pegnnssdyl vqtttylpen
       61 ftyspylpcp eklpymrgfl nvnvsevsfd eihqlfskdl diepgghwrp kdckprwkva
      121 vlipfrnrhe hlpifflhli pmlqkqrlef afyvieqtgt qpfnramlfn vgfkeamkds
      181 vwdcvifhdv dhlpendrny ygcgemprhf aakldkymyi lpykeffggv sgltveqfrk
      241 ingfpnafwg wggedddlwn rvhyagynvt rpegdlgkyk siphhhrgev qflgrykllr
      301 yskerqyidg lnnliyrpki lvdrlytnis vnlmpelapi edy
//
LOCUS       NP_001035282             388 aa            linear   PRI 28-DEC-2022
DEFINITION  dnaJ homolog subfamily C member 28 [Homo sapiens].
ACCESSION   NP_001035282
VERSION     NP_001035282.1
DBSOURCE    REFSEQ: accession NM_001040192.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 388)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen
            AA, Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke
            L, Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM,
            Tiemeier H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst
            FC, Ward ME, Wright MJ, Davey Smith G, Deary IJ, Johannesson M,
            Plomin R, Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   2  (residues 1 to 388)
  AUTHORS   Dowling JK, Becker CE, Bourke NM, Corr SC, Connolly DJ, Quinn SR,
            Pandolfi PP, Mansell A and O'Neill LAJ.
  TITLE     Promyelocytic leukemia protein interacts with the
            apoptosis-associated speck-like protein to limit inflammasome
            activation
  JOURNAL   J Biol Chem 289 (10), 6429-6437 (2014)
   PUBMED   24407287
REFERENCE   3  (residues 1 to 388)
  AUTHORS   Gardiner K, Slavov D, Bechtel L and Davisson M.
  TITLE     Annotation of human chromosome 21 for relevance to Down syndrome:
            gene structure and expression analysis
  JOURNAL   Genomics 79 (6), 833-843 (2002)
   PUBMED   12036298
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC029509.1, CB241459.1 and
            AI825667.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the DnaJ heat shock protein
            family. The encoded protein, which contains a conserved N-terminal
            DnaJ domain, is thought to play a role in protein folding or act as
            a molecular chaperone protein. [provided by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1, 2, and 3 encode the same
            protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC029509.1, DA234338.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381947.4/ ENSP00000371373.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..388
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     Protein         1..388
                     /product="dnaJ homolog subfamily C member 28"
                     /note="DnaJ (Hsp40) homolog, subfamily C, member 28"
                     /calculated_mol_wt=45675
     Region          45..>178
                     /region_name="CbpA"
                     /note="Curved DNA-binding protein CbpA, contains a
                     DnaJ-like domain [Transcription]; COG2214"
                     /db_xref="CDD:225124"
     Region          51..104
                     /region_name="DnaJ"
                     /note="DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock
                     protein 40) proteins are highly conserved and play crucial
                     roles in protein translation, folding, unfolding,
                     translocation, and degradation. They act primarily by
                     stimulating the ATPase activity of Hsp70s; cd06257"
                     /db_xref="CDD:99751"
     Site            order(79..81,90,92..93,96..97)
                     /site_type="other"
                     /note="HSP70 interaction site [polypeptide binding]"
                     /db_xref="CDD:99751"
     Region          <200..338
                     /region_name="PLN03085"
                     /note="nucleobase:cation symporter-1; Provisional"
                     /db_xref="CDD:215566"
     Region          203..271
                     /region_name="DUF1992"
                     /note="Domain of unknown function (DUF1992); pfam09350"
                     /db_xref="CDD:430549"
     Site            347
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17693683; propagated from
                     UniProtKB/Swiss-Prot (Q9NX36.2)"
     CDS             1..388
                     /gene="DNAJC28"
                     /gene_synonym="C21orf55; C21orf78"
                     /coded_by="NM_001040192.3:147..1313"
                     /db_xref="CCDS:CCDS13626.1"
                     /db_xref="GeneID:54943"
                     /db_xref="HGNC:HGNC:1297"
ORIGIN      
        1 mntmyvmmaq ilrshlikat vipnrvkmlp yfgiirnrmm sthkskkkir eyyrllnvee
       61 gcsadevres fhklakqyhp dsgsntadsa tfiriekayr kvlshvieqt nasqskgeee
      121 edvekfkykt pqhrhylsfe gigfgtptqr ekhyrqfrad raaeqvmeyq kqklqsqyfp
      181 dsvivknirq skqqkitqai erlvedliqe smakgdfdnl sgkgkplkkf sdcsyidpmt
      241 hnlnrilidn gyqpewilkq keisdtieql reailvsrkk lgnpmtptek kqwnhvceqf
      301 qenirklnkr indfnlivpi ltrqkvhfda qkeivraqki yetliktkev tdrnpnnldq
      361 gegektpeik kgflnwmnlw kfikirsf
//
LOCUS       NP_001332958             454 aa            linear   PRI 28-DEC-2022
DEFINITION  ubiquitin carboxyl-terminal hydrolase 45 isoform f [Homo sapiens].
ACCESSION   NP_001332958
VERSION     NP_001332958.1
DBSOURCE    REFSEQ: accession NM_001346029.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 454)
  AUTHORS   Yi Z, Ouyang J, Sun W, Xiao X, Li S, Jia X, Wang P and Zhang Q.
  TITLE     Biallelic mutations in USP45, encoding a deubiquitinating enzyme,
            are associated with Leber congenital amaurosis
  JOURNAL   J Med Genet 56 (5), 325-331 (2019)
   PUBMED   30573563
  REMARK    GeneRIF: Our study implicates that biallelic mutations in USP45 are
            associated with the occurrence of LCA. Moreover, our results
            indicate that USP45 is indispensable to the maintenance of
            photoreceptor function.
REFERENCE   2  (residues 1 to 454)
  AUTHORS   Conte C, Griffis ER, Hickson I and Perez-Oliva AB.
  TITLE     USP45 and Spindly are part of the same complex implicated in cell
            migration
  JOURNAL   Sci Rep 8 (1), 14375 (2018)
   PUBMED   30258100
  REMARK    GeneRIF: Using mass spectrometry this study identified CCDC99 as a
            new target of USP45. The data showed that CCDC99 and USP45 are part
            of the same complex and that their interaction specifically depends
            on the catalytic activity of USP45.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 454)
  AUTHORS   Perez-Oliva AB, Lachaud C, Szyniarowski P, Munoz I, Macartney T,
            Hickson I, Rouse J and Alessi DR.
  TITLE     USP45 deubiquitylase controls ERCC1-XPF endonuclease-mediated DNA
            damage responses
  JOURNAL   EMBO J 34 (3), 326-343 (2015)
   PUBMED   25538220
  REMARK    GeneRIF: these results establish USP45 as a new regulator of
            XPF-ERCC1 crucial for efficient DNA repair
REFERENCE   4  (residues 1 to 454)
  AUTHORS   Quesada V, Diaz-Perales A, Gutierrez-Fernandez A, Garabaya C, Cal S
            and Lopez-Otin C.
  TITLE     Cloning and enzymatic analysis of 22 novel human ubiquitin-specific
            proteases
  JOURNAL   Biochem Biophys Res Commun 314 (1), 54-62 (2004)
   PUBMED   14715245
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL137784.14 and AL513550.9.
            
            Summary: The protein encoded by this gene is a deubiquitylase that
            binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair
            endonuclease. This endonuclease is a critical regulator of DNA
            repair processes, and the deubiquitylase activity of the encoded
            protein is important for maintaining the DNA repair ability of
            XPF-ERCC1. [provided by RefSeq, Sep 2016].
            
            Transcript Variant: This variant (10), as well as variants 8 and 9,
            encodes isoform f.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.122219.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..454
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q16.2"
     Protein         1..454
                     /product="ubiquitin carboxyl-terminal hydrolase 45 isoform
                     f"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin specific protease 45; ubiquitin
                     carboxyl-terminal hydrolase 45; ubiquitin thioesterase 45;
                     deubiquitinating enzyme 45; ubiquitin-specific-processing
                     protease 45; ubiquitin thiolesterase 45"
                     /calculated_mol_wt=50862
     Region          <243..451
                     /region_name="Peptidase_C19K"
                     /note="A subfamily of Peptidase C19. Peptidase C19
                     contains ubiquitinyl hydrolases. They are intracellular
                     peptidases that remove ubiquitin molecules from
                     polyubiquinated peptides by cleavage of isopeptide bonds.
                     They hydrolyze bonds involving the carboxyl...; cd02667"
                     /db_xref="CDD:239132"
     CDS             1..454
                     /gene="USP45"
                     /gene_synonym="LCA19"
                     /coded_by="NM_001346029.3:2516..3880"
                     /note="isoform f is encoded by transcript variant 10"
                     /db_xref="GeneID:85015"
                     /db_xref="HGNC:HGNC:20080"
                     /db_xref="MIM:618439"
ORIGIN      
        1 mmklekkski stvkdpfidi slpiieervs kpllwgrmnk yrslretdhd rysgnvtien
       61 ihqpraakkh ssskdksqli hdrkcirkls sgetvtyqkn enlemngdsl mfaslmnses
      121 rlnesptdds ekeashsesn vdadsepses esaskqtglf rsssgsgvqp dgplyplsag
      181 kllytketds gdkemaeais elrlsstvtg dqdfdrenqp lnisnnlcfl egkhlrsysp
      241 qnafqtlsqs yittskecsi qsclyqftsm ellmgnnkll cenctknkqk yqeetsfaek
      301 kvegvytnar kqllisavpa vlilhlkrfh qaglslrkvn rhvdfplmld lapfcsatck
      361 nasvgdkvly glygivehsg smreghytay vkvrtpsrkl sehntkkknv pglkaadnes
      421 agqwvhvsdt ylqvvpesra lsaqayllfy ervl
//
LOCUS       NP_001292999             373 aa            linear   PRI 29-DEC-2022
DEFINITION  muscleblind-like protein 2 isoform 4 [Homo sapiens].
ACCESSION   NP_001292999 XP_005254077
VERSION     NP_001292999.1
DBSOURCE    REFSEQ: accession NM_001306070.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 373)
  AUTHORS   Cai J, Wang N, Lin G, Zhang H, Xie W, Zhang Y and Xu N.
  TITLE     MBNL2 Regulates DNA Damage Response via Stabilizing p21
  JOURNAL   Int J Mol Sci 22 (2), 783 (2021)
   PUBMED   33466733
  REMARK    GeneRIF: MBNL2 Regulates DNA Damage Response via Stabilizing p21.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 373)
  AUTHORS   Zhao A, Li Y, Niu M, Li G, Luo N, Zhou L, Kang W and Liu J.
  TITLE     SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with
            Parkinson's disease in southern Chinese population
  JOURNAL   J Cell Mol Med 24 (15), 8744-8752 (2020)
   PUBMED   32652860
  REMARK    GeneRIF: SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated
            with Parkinson's disease in southern Chinese population.
REFERENCE   3  (residues 1 to 373)
  AUTHORS   Fischer S, Di Liddo A, Taylor K, Gerhardus JS, Sobczak K, Zarnack K
            and Weigand JE.
  TITLE     Muscleblind-like 2 controls the hypoxia response of cancer cells
  JOURNAL   RNA 26 (5), 648-663 (2020)
   PUBMED   32127384
  REMARK    GeneRIF: MBNL2 induction was critical for hypoxia adaptation by
            controlling the transcript abundance of hypoxia response genes,
            such as vascular endothelial growth factor A (VEGFA) MBNL2
            depletion reduced the proliferation and migration of cancer cells,
            demonstrating an important role of MBNL2 as cancer driver.
REFERENCE   4  (residues 1 to 373)
  AUTHORS   Cerro-Herreros E, Sabater-Arcis M, Fernandez-Costa JM, Moreno N,
            Perez-Alonso M, Llamusi B and Artero R.
  TITLE     miR-23b and miR-218 silencing increase Muscleblind-like expression
            and alleviate myotonic dystrophy phenotypes in mammalian models
  JOURNAL   Nat Commun 9 (1), 2482 (2018)
   PUBMED   29946070
  REMARK    GeneRIF: Functional depletion of the alternative splicing factors
            Muscleblind-like (MBNL 1 and 2) is at the basis of the
            neuromuscular disease myotonic dystrophy type 1 (DM1). Here, we
            screen for miRNAs that regulate MBNL1 and MBNL2 in HeLa cells. We
            thus identify miR-23b and miR-218, and confirm that they
            downregulate MBNL proteins in this cell line.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 373)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (residues 1 to 373)
  AUTHORS   Paul S, Dansithong W, Kim D, Rossi J, Webster NJ, Comai L and Reddy
            S.
  TITLE     Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in
            DM1-associated aberrant IR splicing
  JOURNAL   EMBO J 25 (18), 4271-4283 (2006)
   PUBMED   16946708
REFERENCE   7  (residues 1 to 373)
  AUTHORS   Adereth Y, Dammai V, Kose N, Li R and Hsu T.
  TITLE     RNA-dependent integrin alpha3 protein localization regulated by the
            Muscleblind-like protein MLP1
  JOURNAL   Nat Cell Biol 7 (12), 1240-1247 (2005)
   PUBMED   16273094
  REMARK    Erratum:[Nat Cell Biol. 2006 Jan;8(1):100]
REFERENCE   8  (residues 1 to 373)
  AUTHORS   Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS and Cooper TA.
  TITLE     Muscleblind proteins regulate alternative splicing
  JOURNAL   EMBO J 23 (15), 3103-3112 (2004)
   PUBMED   15257297
  REMARK    GeneRIF: MBNL proteins promote opposite splicing patterns for
            cardiac troponin T and insulin receptor alternative exons
REFERENCE   9  (residues 1 to 373)
  AUTHORS   Christian SL, McDonough J, Liu Cy CY, Shaikh S, Vlamakis V, Badner
            JA, Chakravarti A and Gershon ES.
  TITLE     An evaluation of the assembly of an approximately 15-Mb region on
            human chromosome 13q32-q33 linked to bipolar disorder and
            schizophrenia
  JOURNAL   Genomics 79 (5), 635-656 (2002)
   PUBMED   11991713
REFERENCE   10 (residues 1 to 373)
  AUTHORS   Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS
            and Brook JD.
  TITLE     Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with
            nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
  JOURNAL   Hum Mol Genet 11 (7), 805-814 (2002)
   PUBMED   11929853
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161430.19 and AL442067.16.
            On Apr 14, 2015 this sequence version replaced XP_005254077.1.
            
            Summary: This gene is a member of the muscleblind protein family
            which was initially described in Drosophila melanogaster. This gene
            encodes a C3H-type zinc finger protein that modulates alternative
            splicing of pre-mRNAs. Muscleblind proteins bind specifically to
            expanded dsCUG RNA but not to normal size CUG repeats and may
            thereby play a role in the pathophysiology of myotonic dystrophy.
            Several alternatively spliced transcript variants have been
            described but the full-length natures of only some have been
            determined. [provided by RefSeq, Mar 2012].
            
            Transcript Variant: This variant (4) lacks an exon in the 3' coding
            region, which results in a frameshift, compared to variant 1. It
            encodes isoform 4 which has a longer and distinct C-terminus
            compared to isoform 1. Variants 4 and 15-17 all encode the same
            isoform (4).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.472726.1,
                                           SRR14038197.2503989.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..373
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.1"
     Protein         1..373
                     /product="muscleblind-like protein 2 isoform 4"
                     /note="muscleblind-like protein 2; muscleblind-like
                     protein 1; muscleblind-like protein-like 39;
                     muscleblind-like 2"
                     /calculated_mol_wt=40387
     Region          17..40
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     Region          178..202
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     CDS             1..373
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /coded_by="NM_001306070.2:804..1925"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS76644.1"
                     /db_xref="GeneID:10150"
                     /db_xref="HGNC:HGNC:16746"
                     /db_xref="MIM:607327"
ORIGIN      
        1 malnvapvrd tkwltlevcr qfqrgtcsrs deeckfahpp kscqvengrv iacfdslkgr
       61 csrenckylh ppthlktqle ingrnnliqq ktaaamlaqq mqfmfpgtpl hpvptfpvgp
      121 aigtntaisf apylapvtpg vglvpteilp ttpvivpgsp pvtvpgstat qkllrtdkle
      181 vcrefqrgnc argetdcrfa hpadstmidt sdntvtvcmd yikgrcmrek ckyfhppahl
      241 qakikaaqhq anqaavaaqa aaaaatvmaf ppgalhplpk rqaleksngt savfnpsvlh
      301 yqqaltsaql qqhaafiptg svlcmtpats idnseiisrn gmecqesalr itkhcyctyy
      361 pvsssielpq tac
//
LOCUS       NP_001371829             777 aa            linear   PRI 29-DEC-2022
DEFINITION  semaphorin-3D precursor [Homo sapiens].
ACCESSION   NP_001371829 XP_011514262
VERSION     NP_001371829.1
DBSOURCE    REFSEQ: accession NM_001384900.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 777)
  AUTHORS   Hai R, You Q, Wu F, Qiu G, Yang Q, Shu L, Xie L and Zhou X.
  TITLE     Semaphorin 3D inhibits proliferation and migration of papillary
            thyroid carcinoma by regulating MAPK/ERK signaling pathway
  JOURNAL   Mol Biol Rep 49 (5), 3793-3802 (2022)
   PUBMED   35190928
  REMARK    GeneRIF: Semaphorin 3D inhibits proliferation and migration of
            papillary thyroid carcinoma by regulating MAPK/ERK signaling
            pathway.
REFERENCE   2  (residues 1 to 777)
  AUTHORS   Yoshida E, Terao Y, Hayashi N, Mogushi K, Arakawa A, Tanaka Y, Ito
            Y, Ohmiya H, Hayashizaki Y, Takeda S, Itoh M and Kawaji H.
  TITLE     Promoter-level transcriptome in primary lesions of endometrial
            cancer identified biomarkers associated with lymph node metastasis
  JOURNAL   Sci Rep 7 (1), 14160 (2017)
   PUBMED   29074988
  REMARK    GeneRIF: SEMA3D mRNA is expressed mainly in the cytoplasm of the
            endometrial cancer cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 777)
  AUTHORS   Wang Z, Ding M, Qian N, Song B, Yu J, Tang J and Wang J.
  TITLE     Decreased expression of semaphorin 3D is associated with genesis
            and development in colorectal cancer
  JOURNAL   World J Surg Oncol 15 (1), 67 (2017)
   PUBMED   28320475
  REMARK    GeneRIF: Low SEMA3D expression is associated with colorectal
            cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 777)
  AUTHORS   Martin-Sierra C, Gallego-Martinez A, Requena T, Frejo L,
            Batuecas-Caletrio A and Lopez-Escamez JA.
  TITLE     Variable expressivity and genetic heterogeneity involving DPT and
            SEMA3D genes in autosomal dominant familial Meniere's disease
  JOURNAL   Eur J Hum Genet 25 (2), 200-207 (2017)
   PUBMED   27876815
  REMARK    GeneRIF: Novel mutation in SEMA3D segregates with the complete
            phenotype with variable expressivity in two pedigrees with
            autosomal dominant familial Meniere's disease.
REFERENCE   5  (residues 1 to 777)
  AUTHORS   Binch AL, Cole AA, Breakwell LM, Michael AL, Chiverton N, Creemers
            LB, Cross AK and Le Maitre CL.
  TITLE     Class 3 semaphorins expression and association with innervation and
            angiogenesis within the degenerate human intervertebral disc
  JOURNAL   Oncotarget 6 (21), 18338-18354 (2015)
   PUBMED   26286962
  REMARK    GeneRIF: Data show significant increases in semaphorin3C, 3D and
            their receptor neuropilin-2 in degenerate samples which were shown
            to contain nerves and blood vessels, compared to non-degenerate
            samples without nerves and blood vessels.
REFERENCE   6  (residues 1 to 777)
  AUTHORS   Fujii T, Uchiyama H, Yamamoto N, Hori H, Tatsumi M, Ishikawa M,
            Arima K, Higuchi T and Kunugi H.
  TITLE     Possible association of the semaphorin 3D gene (SEMA3D) with
            schizophrenia
  JOURNAL   J Psychiatr Res 45 (1), 47-53 (2011)
   PUBMED   20684831
  REMARK    GeneRIF: This study provided strong evidence that SEMA3D confers
            susceptibility to schizophrenia, which could contribute to the
            neurodevelopmental impairments in the disorder.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 777)
  AUTHORS   Gregorio SP, Sallet PC, Do KA, Lin E, Gattaz WF and Dias-Neto E.
  TITLE     Polymorphisms in genes involved in neurodevelopment may be
            associated with altered brain morphology in schizophrenia:
            preliminary evidence
  JOURNAL   Psychiatry Res 165 (1-2), 1-9 (2009)
   PUBMED   19054571
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 777)
  AUTHORS   Kigel B, Varshavsky A, Kessler O and Neufeld G.
  TITLE     Successful inhibition of tumor development by specific class-3
            semaphorins is associated with expression of appropriate semaphorin
            receptors by tumor cells
  JOURNAL   PLoS One 3 (9), e3287 (2008)
   PUBMED   18818766
  REMARK    GeneRIF: Sema3D inhibits tumor development from MDA-MB-231 and
            MDA-MB-435 cancer cells. It inhibits tumor angiogenesis in all of
            the formed tumors.
            Publication Status: Online-Only
REFERENCE   9  (residues 1 to 777)
  AUTHORS   Lallier TE.
  TITLE     Semaphorin profiling of periodontal fibroblasts and osteoblasts
  JOURNAL   J Dent Res 83 (9), 677-682 (2004)
   PUBMED   15329371
REFERENCE   10 (residues 1 to 777)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006151.4 and AC004957.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 1, 2020 this sequence version replaced XP_011514262.1.
            
            Summary: This gene encodes a member of the semaphorin III family of
            secreted signaling proteins that are involved in axon guidance
            during neuronal development. The encoded protein contains an
            N-terminal Sema domain, an immunoglobulin like domain and a
            C-terminal basic domain. The protein encoded by this gene binds
            neuropilin and plays an important role in cardiovascular
            development. [provided by RefSeq, Aug 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3384259.1,
                                           SRR14038197.451407.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000284136.11/ ENSP00000284136.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..777
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.11"
     Protein         1..777
                     /product="semaphorin-3D precursor"
                     /note="collapsin 2; sema domain, immunoglobulin domain
                     (Ig), short basic domain, secreted, (semaphorin) 3D"
                     /calculated_mol_wt=85514
     sig_peptide     1..36
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95025.2)"
                     /calculated_mol_wt=4156
     mat_peptide     37..777
                     /product="Semaphorin-3D. /id=PRO_0000032314"
                     /note="propagated from UniProtKB/Swiss-Prot (O95025.2)"
                     /calculated_mol_wt=85514
     Region          61..534
                     /region_name="Sema_3D"
                     /note="The Sema domain, a protein interacting module, of
                     semaphorin 3D (Sema3D); cd11252"
                     /db_xref="CDD:200513"
     Site            order(118..121,180..181,185,206,208..209,216,229,232..233,
                     235,240,269,293..297,299,415,419,422)
                     /site_type="other"
                     /note="putative plexin binding site [polypeptide binding]"
                     /db_xref="CDD:200513"
     Site            139
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95025.2)"
     Site            order(270..271,273,276..278,312,315..316,318,320,324,
                     347..354,380..383,428,443)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:200513"
     Region          533..570
                     /region_name="PSI"
                     /note="domain found in Plexins, Semaphorins and Integrins;
                     smart00423"
                     /db_xref="CDD:214655"
     Region          595..686
                     /region_name="Ig_Sema3"
                     /note="Immunoglobulin (Ig)-like domain of class III
                     semaphorin Sema3; cd05871"
                     /db_xref="CDD:409455"
     Region          595..601
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409455"
     Region          606..614
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409455"
     Site            607
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95025.2)"
     Site            order(608,653)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:409455"
     Region          620..626
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409455"
     Region          628..631
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409455"
     Region          641..645
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409455"
     Region          648..655
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409455"
     Region          661..670
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409455"
     Region          673..686
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409455"
     Site            724
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95025.2)"
     Region          738..777
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95025.2)"
     CDS             1..777
                     /gene="SEMA3D"
                     /gene_synonym="coll-2; Sema-Z2"
                     /coded_by="NM_001384900.1:552..2885"
                     /db_xref="CCDS:CCDS34676.1"
                     /db_xref="GeneID:223117"
                     /db_xref="HGNC:HGNC:10726"
                     /db_xref="MIM:609907"
ORIGIN      
        1 mnankderlk arsqdfhlfp almmlsmtml flpvtgtlkq niprlkltyk dlllsnscip
       61 flgssegldf qtllldeerg rlllgakdhi fllslvdlnk nfkkiywpaa kervelckla
      121 gkdantecan firvlqpynk thiyvcgtga fhpicgyidl gvykediifk ldthnlesgr
      181 lkcpfdpqqp fasvmtdeyl ysgtasdflg kdtaftrslg pthdhhyirt disehywlng
      241 akfigtffip dtynpdddki yfffressqe gstsdktils rvgrvckndv ggqrslinkw
      301 ttflkarlic sipgsdgadt yfdelqdiyl lptrdernpv vygvftttss ifkgsavcvy
      361 smadiravfn gpyahkesad hrwvqydgri pyprpgtcps ktydplikst rdfpddvisf
      421 ikrhsvmyks vypvaggptf krinvdyrlt qivvdhviae dgqydvmflg tdigtvlkvv
      481 siskekwnme evvleelqif khssiilnme lslkqqqlyi gsrdglvqls lhrcdtygka
      541 cadcclardp ycawdgnacs ryaptskrra rrqdvkygdp itqcwdieds ishetadekv
      601 ifgiefnstf lecipksqqa tikwyiqrsg dehreelkpd eriikteygl lirslqkkds
      661 gmyyckaqeh tfihtivklt lnvieneqme ntqraeheeg kvkdllaesr lrykdyiqil
      721 sspnfsldqy ceqmwhrekr rqrnkggpkw khmqemkkkr nrrhhrdlde lpravat
//
LOCUS       NP_001317017            1447 aa            linear   PRI 30-DEC-2022
DEFINITION  neurexin-1 isoform alpha11 precursor [Homo sapiens].
ACCESSION   NP_001317017 XP_016860820
VERSION     NP_001317017.1
DBSOURCE    REFSEQ: accession NM_001330088.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1447)
  AUTHORS   Zhong Y, An L, Wang Y, Yang L and Cao Q.
  TITLE     Functional abnormality in the sensorimotor system attributed to
            NRXN1 variants in boys with attention deficit hyperactivity
            disorder
  JOURNAL   Brain Imaging Behav 16 (3), 967-976 (2022)
   PUBMED   34687402
  REMARK    GeneRIF: Functional abnormality in the sensorimotor system
            attributed to NRXN1 variants in boys with attention deficit
            hyperactivity disorder.
REFERENCE   2  (residues 1 to 1447)
  AUTHORS   Rhoades R, Henry B, Prichett D, Fang Y and Teng S.
  TITLE     Computational Saturation Mutagenesis to Investigate the Effects of
            Neurexin-1 Mutations on AlphaFold Structure
  JOURNAL   Genes (Basel) 13 (5), 789 (2022)
   PUBMED   35627176
  REMARK    GeneRIF: Computational Saturation Mutagenesis to Investigate the
            Effects of Neurexin-1 Mutations on AlphaFold Structure.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1447)
  AUTHORS   Shiota Y, Matsudaira I, Takeuchi H, Ono C, Tomita H, Kawashima R
            and Taki Y.
  TITLE     The influence of NRXN1 on systemizing and the brain structure in
            healthy adults
  JOURNAL   Brain Imaging Behav 16 (2), 692-701 (2022)
   PUBMED   34529206
  REMARK    GeneRIF: The influence of NRXN1 on systemizing and the brain
            structure in healthy adults.
REFERENCE   4  (residues 1 to 1447)
  AUTHORS   Aksu Uzunhan T and Ayaz A.
  TITLE     Homozygous exonic and intragenic NRXN1 deletion presenting as
            either West syndrome or autism spectrum disorder in two siblings
  JOURNAL   Clin Neurol Neurosurg 214, 107141 (2022)
   PUBMED   35101781
  REMARK    GeneRIF: Homozygous exonic and intragenic NRXN1 deletion presenting
            as either West syndrome or autism spectrum disorder in two
            siblings.
REFERENCE   5  (residues 1 to 1447)
  AUTHORS   Yan Q, Weyn-Vanhentenryck SM, Wu J, Sloan SA, Zhang Y, Chen K, Wu
            JQ, Barres BA and Zhang C.
  TITLE     Systematic discovery of regulated and conserved alternative exons
            in the mammalian brain reveals NMD modulating chromatin regulators
  JOURNAL   Proc Natl Acad Sci U S A 112 (11), 3445-3450 (2015)
   PUBMED   25737549
REFERENCE   6  (residues 1 to 1447)
  AUTHORS   Tabuchi K and Sudhof TC.
  TITLE     Structure and evolution of neurexin genes: insight into the
            mechanism of alternative splicing
  JOURNAL   Genomics 79 (6), 849-859 (2002)
   PUBMED   12036300
REFERENCE   7  (residues 1 to 1447)
  AUTHORS   Rowen L, Young J, Birditt B, Kaur A, Madan A, Philipps DL, Qin S,
            Minx P, Wilson RK, Hood L and Graveley BR.
  TITLE     Analysis of the human neurexin genes: alternative splicing and the
            generation of protein diversity
  JOURNAL   Genomics 79 (4), 587-597 (2002)
   PUBMED   11944992
REFERENCE   8  (residues 1 to 1447)
  AUTHORS   Ichtchenko K, Hata Y, Nguyen T, Ullrich B, Missler M, Moomaw C and
            Sudhof TC.
  TITLE     Neuroligin 1: a splice site-specific ligand for beta-neurexins
  JOURNAL   Cell 81 (3), 435-443 (1995)
   PUBMED   7736595
REFERENCE   9  (residues 1 to 1447)
  AUTHORS   Ullrich B, Ushkaryov YA and Sudhof TC.
  TITLE     Cartography of neurexins: more than 1000 isoforms generated by
            alternative splicing and expressed in distinct subsets of neurons
  JOURNAL   Neuron 14 (3), 497-507 (1995)
   PUBMED   7695896
REFERENCE   10 (residues 1 to 1447)
  AUTHORS   Ushkaryov YA, Petrenko AG, Geppert M and Sudhof TC.
  TITLE     Neurexins: synaptic cell surface proteins related to the
            alpha-latrotoxin receptor and laminin
  JOURNAL   Science 257 (5066), 50-56 (1992)
   PUBMED   1621094
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007682.3, AC009234.3,
            AC007462.3, AC068725.5, AC069550.4 and AC078994.3.
            On Aug 16, 2016 this sequence version replaced XP_016860820.1.
            
            Summary: This gene encodes a single-pass type I membrane protein
            that belongs to the neurexin family. Neurexins are cell-surface
            receptors that bind neuroligins to form Ca(2+)-dependent
            neurexin/neuroligin complexes at synapses in the central nervous
            system. This complex is required for efficient neurotransmission
            and is involved in the formation of synaptic contacts. Three
            members of this gene family have been studied in detail and are
            estimated to generate over 3,000 variants through the use of two
            alternative promoters (alpha and beta) and extensive alternative
            splicing in each family member. Recently, a third promoter (gamma)
            was identified for this gene in the 3' region. Mutations in this
            gene are associated with Pitt-Hopkins-like syndrome-2 and may
            contribute to susceptibility to schizophrenia. [provided by RefSeq,
            Aug 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1660803.3385.1, SRR7410570.155826.1
                                    [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1966682,
                                    SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1447
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.3"
     Protein         1..1447
                     /product="neurexin-1 isoform alpha11 precursor"
                     /note="neurexin I"
                     /calculated_mol_wt=156080
     sig_peptide     1..25
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2653
     Region          30..190
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cd00110"
                     /db_xref="CDD:238058"
     Region          297..428
                     /region_name="LamG"
                     /note="Laminin G domain; smart00282"
                     /db_xref="CDD:214598"
     Region          485..634
                     /region_name="LamG"
                     /note="Laminin G domain; smart00282"
                     /db_xref="CDD:214598"
     Region          662..695
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Region          728..849
                     /region_name="Laminin_G_2"
                     /note="Laminin G domain; pfam02210"
                     /db_xref="CDD:426661"
     Region          906..1034
                     /region_name="Laminin_G_2"
                     /note="Laminin G domain; pfam02210"
                     /db_xref="CDD:426661"
     Region          1129..1247
                     /region_name="Laminin_G_2"
                     /note="Laminin G domain; pfam02210"
                     /db_xref="CDD:426661"
     Region          1372..>1407
                     /region_name="Syndecan"
                     /note="Syndecan domain; pfam01034"
                     /db_xref="CDD:426005"
     Region          1392..1410
                     /region_name="4.1m"
                     /note="putative band 4.1 homologues' binding motif;
                     smart00294"
                     /db_xref="CDD:128590"
     CDS             1..1447
                     /gene="NRXN1"
                     /gene_synonym="Hs.22998; PTHSL2; SCZD17"
                     /coded_by="NM_001330088.2:1074..5417"
                     /note="isoform alpha11 precursor is encoded by transcript
                     variant alpha11"
                     /db_xref="GeneID:9378"
                     /db_xref="HGNC:HGNC:8008"
                     /db_xref="MIM:600565"
ORIGIN      
        1 mgtallqrgg cfllclslll lgcwaelgsg lefpgaegqw trfpkwnacc esemsfqlkt
       61 rsarglvlyf ddegfcdfle liltrggrlq lsfsifcaep atlladtpvn dgawhsvrir
      121 rqfrnttlfi dqveakwvev kskrrdmtvf sglfvgglpp elraaalklt lasvrerepf
      181 kgwirdvrvn ssqvlpvdsg evklddeppn sgggspceag eegeggvcln ggvcsvvddq
      241 avcdcsrtgf rgkdcsqgla hlmmgdqgke eyiatfkgse yfcydlsqnp iqsssdeitl
      301 sfktlqrngl mlhtgksady vnlalkngav slvinlgsga fealvepvng kfndnawhdv
      361 kvtrnlrqvt isvdgilttt gytqedytml gsddffyvgg spstadlpgs pvsnnfmgcl
      421 kevvyknndv rlelsrlakq gdpkmkihgv vafkcenvat ldpitfetpe sfislpkwna
      481 kktgsisfdf rttepnglil fshgkprhqk dakhpqmikv dffaiemldg hlyllldmgs
      541 gtikikallk kvndgewyhv dfqrdgrsgt isvntlrtpy tapgeseild lddelylggl
      601 penkaglvfp tevwtallny gyvgcirdlf idgqskdirq maevqstagv kpscsketak
      661 pclsnpcknn gmcrdgwnry vcdcsgtgyl grscereatv lsydgsmfmk iqlpvvmhte
      721 aedvslrfrs qraygilmat tsrdsadtlr leldagrvkl tvnlgkgpet lfagynlndn
      781 ewhtvrvvrr gkslkltvdd qqamtgqmag dhtrlefhni etgiiterry lssvpsnfig
      841 hlqsltfngm ayidlckngd idycelnarf gfrniiadpv tfktkssyva latlqaytsm
      901 hlffqfktts ldglilynsg dgndfivvel vkgylhyvfd lgnganlikg ssnkplndnq
      961 whnvmisrdt snlhtvkidt kittqitaga rnldlksdly iggvaketyk slpklvhake
     1021 gfqgclasvd lngrlpdlis dalfcngqie rgcegpsttc qedscsnqgv clqqwdgfsc
     1081 dcsmtsfsgp lcndpgttyi fskgggqity kwppndrpst radrlaigfs tvqkeavlvr
     1141 vdsssglgdy lelhihqgki gvkfnvgtdd iaieesnaii ndgkyhvvrf trsggnatlq
     1201 vdswpviery pagrqltifn sqatiiiggk eqgqpfqgql sglyynglkv lnmaaendan
     1261 iaivgnvrlv gevpssmtte statamqsem stsimetttt latstarrgk pptkepisqt
     1321 tddilvasae cpsddedidp cepssanptr aggrepypgs aeviressst tgmvvgivaa
     1381 aalcililly amykyrnrde gsyhvdesrn yisnsaqsng avvkekqpss akssnknkkn
     1441 kdkeyyv
//
LOCUS       NP_001093862             291 aa            linear   PRI 30-DEC-2022
DEFINITION  RNA-binding Raly-like protein isoform 2 [Homo sapiens].
ACCESSION   NP_001093862
VERSION     NP_001093862.1
DBSOURCE    REFSEQ: accession NM_001100392.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 291)
  AUTHORS   Xia Y, Ye S, Yang Y, Liu Y and Tong G.
  TITLE     Over-expression of RALYL suppresses the progression of ovarian
            clear cell carcinoma through inhibiting MAPK and CDH1 signaling
            pathways
  JOURNAL   Int J Med Sci 18 (3), 785-791 (2021)
   PUBMED   33437214
  REMARK    GeneRIF: Over-expression of RALYL suppresses the progression of
            ovarian clear cell carcinoma through inhibiting MAPK and CDH1
            signaling pathways.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 291)
  AUTHORS   Zhang Y, Wang J, Liu X and Liu H.
  TITLE     Exploring the role of RALYL in Alzheimer's disease reserve by
            network-based approaches
  JOURNAL   Alzheimers Res Ther 12 (1), 165 (2020)
   PUBMED   33298176
  REMARK    GeneRIF: Exploring the role of RALYL in Alzheimer's disease reserve
            by network-based approaches.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 291)
  AUTHORS   Cobb J, Cule E, Moncrieffe H, Hinks A, Ursu S, Patrick F,
            Kassoumeri L, Flynn E, Bulatovic M, Wulffraat N, van Zelst B, de
            Jonge R, Bohm M, Dolezalova P, Hirani S, Newman S, Whitworth P,
            Southwood TR, De Iorio M, Wedderburn LR and Thomson W.
  CONSRTM   Childhood Arthritis Response to Medication Study (CHARMS);
            Childhood Arthritis Prospective Study (CAPS); BSPAR study group
  TITLE     Genome-wide data reveal novel genes for methotrexate response in a
            large cohort of juvenile idiopathic arthritis cases
  JOURNAL   Pharmacogenomics J 14 (4), 356-364 (2014)
   PUBMED   24709693
REFERENCE   4  (residues 1 to 291)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   5  (residues 1 to 291)
  AUTHORS   Xin X, Rual JF, Hirozane-Kishikawa T, Hill DE, Vidal M, Boone C and
            Thierry-Mieg N.
  TITLE     Shifted Transversal Design smart-pooling for high coverage
            interactome mapping
  JOURNAL   Genome Res 19 (7), 1262-1269 (2009)
   PUBMED   19447967
REFERENCE   6  (residues 1 to 291)
  AUTHORS   Ji CN, Chen JZ, Xie Y, Wang S, Qian J, Zhao E, Jin W, Wu XZ, Xu WX,
            Ying K and Mao YM.
  TITLE     A novel cDNA encodes a putative hRALY-like protein, hRALYL
  JOURNAL   Mol Biol Rep 30 (1), 61-67 (2003)
   PUBMED   12688537
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012400.11, AC103816.2, AC027043.7, AC087368.7 and AC009901.6.
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region and initiates translation at a
            downstream start codon, compared to variant 1. Variants 2 through 4
            encode the same isoform (2), which has a shorter N-terminus
            compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK095560.1, SRR1803611.275098.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA1968832 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..291
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.2"
     Protein         1..291
                     /product="RNA-binding Raly-like protein isoform 2"
                     /note="RNA-binding Raly-like protein; hnRNP core protein
                     C-like 3; heterogeneous nuclear ribonucleoprotein C-like
                     3"
                     /calculated_mol_wt=32199
     Region          15..97
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     Region          171..192
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SE5.2)"
     Region          199..>244
                     /region_name="XhlA"
                     /note="Haemolysin XhlA; pfam10779"
                     /db_xref="CDD:402419"
     Region          249..291
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SE5.2)"
     CDS             1..291
                     /gene="RALYL"
                     /gene_synonym="HNRPCL3"
                     /coded_by="NM_001100392.3:361..1236"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS55253.1"
                     /db_xref="GeneID:138046"
                     /db_xref="HGNC:HGNC:27036"
                     /db_xref="MIM:614648"
ORIGIN      
        1 mtgktqtsnv tnkndpksin srvfignlnt aivkkvdiea ifskygkivg csvhkgyafv
       61 qymserhara avagenarvi agqpldinma gepkpyrpkp gnkrplsaly rleskepfls
      121 vggyvfdydy yrddfynrlf dyhgrvpppp raviplkrpr vavtttrrgk gvfsmkggsr
      181 stasgstgsk lksdelqtik keltqiktki dsllgrleki ekqqkaeaea qkkqleeslv
      241 liqeecvsei adhsteepae ggpdadgeem tdgieedfde dgghelflqi k
//
LOCUS       NP_001257350             148 aa            linear   PRI 30-DEC-2022
DEFINITION  cryptic protein isoform 3 precursor [Homo sapiens].
ACCESSION   NP_001257350
VERSION     NP_001257350.1
DBSOURCE    REFSEQ: accession NM_001270421.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 148)
  AUTHORS   Chikaraishi K, Takenobu H, Sugino RP, Mukae K, Akter J, Haruta M,
            Kurosumi M, Endo TA, Koseki H, Shimojo N, Ohira M and Kamijo T.
  TITLE     CFC1 is a cancer stemness-regulating factor in neuroblastoma
  JOURNAL   Oncotarget 8 (28), 45046-45059 (2017)
   PUBMED   28620148
  REMARK    GeneRIF: The knockdown and overexpression of CFC1 were performed
            using a lentiviral system in NB cell lines. The overexpression of
            CFC1 increased sphere formation, cell growth, and colony formation.
REFERENCE   2  (residues 1 to 148)
  AUTHORS   Gupta K, Pilli VS and Aradhyam GK.
  TITLE     Left-right axis asymmetry determining human Cryptic gene is
            transcriptionally repressed by Snail
  JOURNAL   BMC Dev Biol 16 (1), 39 (2016)
   PUBMED   27793090
  REMARK    GeneRIF: Results demonstrated that over expression of Snail
            suppresses Cryptic expression and confirmed that Snail directly
            binds to Cryptic gene promoter and regulates its expression.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 148)
  AUTHORS   Zhang,D.M., Bao,Y.L., Yu,C.L., Wang,Y.M. and Song,Z.B.
  TITLE     Cripto-1 modulates macrophage cytokine secretion and phagocytic
            activity via NF-kappaB signaling
  JOURNAL   Immunol Res 64 (1), 104-114 (2016)
   PUBMED   26476731
  REMARK    GeneRIF: enhances macrophage phagocytic activity and upregulates
            the production of anti- and pro-inflammatory cytokines via the
            NF-kappaB signaling pathway
REFERENCE   4  (residues 1 to 148)
  AUTHORS   Cao R, Long F, Wang L, Xu Y, Guo Y, Li F, Chen S, Sun K and Xu R.
  TITLE     Duplication and deletion of CFC1 associated with heterotaxy
            syndrome
  JOURNAL   DNA Cell Biol 34 (2), 101-106 (2015)
   PUBMED   25423076
  REMARK    GeneRIF: Data indicate that the duplication and deletion of CFC1
            protein may play key roles in the occurrence of heterotaxy
            syndrome.
REFERENCE   5  (residues 1 to 148)
  AUTHORS   Ravisankar V, Singh TP and Manoj N.
  TITLE     Molecular evolution of the EGF-CFC protein family
  JOURNAL   Gene 482 (1-2), 43-50 (2011)
   PUBMED   21640172
REFERENCE   6  (residues 1 to 148)
  AUTHORS   Belmont JW, Mohapatra B, Towbin JA and Ware SM.
  TITLE     Molecular genetics of heterotaxy syndromes
  JOURNAL   Curr Opin Cardiol 19 (3), 216-220 (2004)
   PUBMED   15096953
  REMARK    Review article
REFERENCE   7  (residues 1 to 148)
  AUTHORS   Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E and
            Muenke M.
  TITLE     CFC1 mutations in patients with transposition of the great arteries
            and double-outlet right ventricle
  JOURNAL   Am J Hum Genet 70 (3), 776-780 (2002)
   PUBMED   11799476
  REMARK    GeneRIF: CFC1 mutations in patients with transposition of the great
            arteries and double-outlet right ventricle
REFERENCE   8  (residues 1 to 148)
  AUTHORS   Bamford RN, Roessler E, Burdine RD, Saplakoglu U, dela Cruz J,
            Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B,
            Schier AF, Shen MM, Muenke M and Casey B.
  TITLE     Loss-of-function mutations in the EGF-CFC gene CFC1 are associated
            with human left-right laterality defects
  JOURNAL   Nat Genet 26 (3), 365-369 (2000)
   PUBMED   11062482
  REMARK    Erratum:[Nat Genet 2000 Dec;26(4):501]
REFERENCE   9  (residues 1 to 148)
  AUTHORS   Shen MM and Schier AF.
  TITLE     The EGF-CFC gene family in vertebrate development
  JOURNAL   Trends Genet 16 (7), 303-309 (2000)
   PUBMED   10858660
  REMARK    Review article
REFERENCE   10 (residues 1 to 148)
  AUTHORS   Alonso S, Pierpont ME, Radtke W, Martinez J, Chen SC, Grant JW,
            Dahnert I, Taviaux S, Romey MC, Demaille J et al.
  TITLE     Heterotaxia syndrome and autosomal dominant inheritance
  JOURNAL   Am J Med Genet 56 (1), 12-15 (1995)
   PUBMED   7747776
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315326.1, CA777249.1,
            CA948246.1 and BI793242.1.
            
            Summary: This gene encodes a member of the epidermal growth factor
            (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved
            in signalling during embryonic development. Proteins in this family
            share a variant EGF-like motif, a conserved cysteine-rich domain,
            and a C-terminal hydrophobic region. The protein encoded by this
            gene is necessary for patterning the left-right embryonic axis.
            Mutations in this gene are associated with defects in organ
            development, including autosomal visceral heterotaxy and congenital
            heart disease. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, Jul 2012].
            
            Transcript Variant: This variant (3) lacks two exons in the coding
            region, but maintains the reading frame, compared to variant 1. The
            encoded isoform (3) is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CA777249.1, CA867455.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..148
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.1"
     Protein         1..148
                     /product="cryptic protein isoform 3 precursor"
                     /note="cryptic family protein 1; heterotaxy 2 (autosomal
                     dominant)"
                     /calculated_mol_wt=13490
     sig_peptide     1..25
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2920
     Site            52
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P0CG37.1)"
     CDS             1..148
                     /gene="CFC1"
                     /gene_synonym="CFC1B; CRYPTIC; DTGA2; HTX2"
                     /coded_by="NM_001270421.2:289..735"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS74573.1"
                     /db_xref="GeneID:55997"
                     /db_xref="HGNC:HGNC:18292"
                     /db_xref="MIM:605194"
ORIGIN      
        1 mtwrhhvrll ftvslalqii nlgnsyqrek hnggreevtk vatqkhrqsp lnwtsshfge
       61 vtgsaegwgp eeplpysraf gedpkdflas hahgpsagga pslllllpca llhrllrpda
      121 pahprslvps vlqrerrpcg rpglghrl
//
LOCUS       NP_001154972             705 aa            linear   PRI 30-DEC-2022
DEFINITION  zinc finger protein 611 isoform a [Homo sapiens].
ACCESSION   NP_001154972
VERSION     NP_001154972.1
DBSOURCE    REFSEQ: accession NM_001161500.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 705)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB122407.1, AC022150.6 and BC028590.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.535913.1,
                                           SRR14038194.2892044.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465410 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..705
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     Protein         1..705
                     /product="zinc finger protein 611 isoform a"
                     /calculated_mol_wt=81319
     Region          24..60
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          233..253
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(238,240,242,244..245,248..249,252,266,268,272..273,
                     276..277,280,294,296,298,300..301,304..305,308)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          256..698
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          261..281
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          289..309
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          345..364
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(350,352,354,356..357,359..360,363,377,379,383..384,
                     387..388,391,405,407,409,411..412,415..416,419)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          372..392
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          400..420
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          428..448
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          456..475
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          484..504
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          512..532
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          540..560
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(545,547,549,551..552,555..556,559,573,575,579..580,
                     583..584,587,601,603,605,607..608,611..612,615)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          568..588
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          596..616
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          624..644
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(629,631,633,635..636,639..640,643,657,659,663..664,
                     667..668,671,685,687,689,691..692,695..696,699)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          652..672
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          680..700
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..705
                     /gene="ZNF611"
                     /coded_by="NM_001161500.2:166..2283"
                     /note="isoform a is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS12855.1"
                     /db_xref="GeneID:81856"
                     /db_xref="HGNC:HGNC:28766"
ORIGIN      
        1 mlreeaaqkr kgkepgmalp qgrltfrdva iefslaewkc lnpsqralyr evmlenyrnl
       61 eavdisskcm mkevlstgqg ntevihtgtl qrheshhigd fcfqeiekei hdiefqcqed
      121 erngleapmt kikkltgstd qhdhrhagnk pikdqlgssf yshlpelhif qikgeignql
      181 ekstndapsv stfqriscrp qtqisnnygn nplnssllpq kqevhmreks fqcnksgkaf
      241 ncssllrkhq iphlgdkqyk cdvcgklfnh eqylachdrc htvekpykck ecgktfsqes
      301 sltchrrlht gvkryncnec gkifgqnsal lidkaidtge npykcnecdk afnqqsqlsh
      361 hrihtgekpy kceecdkvfs rkstiethkr ihtgekpyrc kvcdtaftwh sqlarhrrih
      421 takktykcne cgktfshkss lvchhrlhgg eksykckvcd kafvwssqla khtridcgek
      481 pykcnecgkt fgqnsdllih ksihtgeqpy kcdecekvfs rksslethki ghtgekpykc
      541 kvcdkafach sylakhtrih sgekpykcne csktfshrsy lvchhrvhsg ekpykcnecs
      601 ktfsrrsslh chrrlhsgek pykcnecgnt frhcssliyh rrlhtgeksy kcticdkafv
      661 rnsllsrhtr ihtaekpykc necgkafnqq shlsrhhrih tgekp
//
LOCUS       NP_001333875             373 aa            linear   PRI 30-DEC-2022
DEFINITION  exonuclease V [Homo sapiens].
ACCESSION   NP_001333875
VERSION     NP_001333875.1
DBSOURCE    REFSEQ: accession NM_001346946.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 373)
  AUTHORS   Hambarde S, Tsai CL, Pandita RK, Bacolla A, Maitra A, Charaka V,
            Hunt CR, Kumar R, Limbo O, Le Meur R, Chazin WJ, Tsutakawa SE,
            Russell P, Schlacher K, Pandita TK and Tainer JA.
  TITLE     EXO5-DNA structure and BLM interactions direct DNA resection
            critical for ATR-dependent replication restart
  JOURNAL   Mol Cell 81 (14), 2989-3006 (2021)
   PUBMED   34197737
  REMARK    GeneRIF: EXO5-DNA structure and BLM interactions direct DNA
            resection critical for ATR-dependent replication restart.
REFERENCE   2  (residues 1 to 373)
  AUTHORS   Ali S, Zhang Y, Zhou M, Li H, Jin W, Zheng L, Yu X, Stark JM,
            Weitzel JN and Shen B.
  TITLE     Functional deficiency of DNA repair gene EXO5 results in
            androgen-induced genomic instability and prostate tumorigenesis
  JOURNAL   Oncogene 39 (6), 1246-1259 (2020)
   PUBMED   31616062
  REMARK    GeneRIF: Functional deficiency of DNA repair gene EXO5 results in
            androgen-induced genomic instability and prostate tumorigenesis.
REFERENCE   3  (residues 1 to 373)
  AUTHORS   Paumard-Hernandez B, Calvete O, Inglada Perez L, Tejero H,
            Al-Shahrour F, Pita G, Barroso A, Carlos Trivino J, Urioste M,
            Valverde C, Gonzalez Billalabeitia E, Quiroga V, Francisco
            Rodriguez Moreno J, Fernandez Aramburo A, Lopez C, Maroto P, Sastre
            J, Jose Juan Fita M, Duran I, Lorenzo-Lorenzo I, Iranzo P, Garcia
            Del Muro X, Ros S, Zambrana F, Maria Autran A and Benitez J.
  TITLE     Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel
            susceptibility genes in testicular cancer
  JOURNAL   Int J Cancer 143 (8), 1954-1962 (2018)
   PUBMED   29761480
  REMARK    GeneRIF: Three of them [PLEC (OR = 6.28, p = 6.42 x 10(-23) )
            (p.Arg2016Trp), EXO5 (OR = 3.37, p = 4.82 x 10(-09) )
            (p.Arg344AlafsTer10) and DNAH7 (OR = 1.64, p = 0.048)] were
            replicated as potential candidates.
REFERENCE   4  (residues 1 to 373)
  AUTHORS   Sparks JL, Kumar R, Singh M, Wold MS, Pandita TK and Burgers PM.
  TITLE     Human exonuclease 5 is a novel sliding exonuclease required for
            genome stability
  JOURNAL   J Biol Chem 287 (51), 42773-42783 (2012)
   PUBMED   23095756
  REMARK    GeneRIF: The human homolog (C1orf176; EXO5) that functions in the
            repair of nuclear DNA damage.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA705199.1, BP376962.1,
            AK024797.1 and CA419097.1.
            
            Summary: The protein encoded by this gene is a single-stranded DNA
            (ssDNA)-specific exonuclease that can slide along the DNA before
            cutting it. However, human replication protein A binds ssDNA and
            restricts sliding of the encoded protein, providing a
            5'-directionality to the enzyme. This protein localizes to nuclear
            repair loci after DNA damage. [provided by RefSeq, Nov 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. All variants encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1923641.1, BP376962.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145240, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..373
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..373
                     /product="exonuclease V"
                     /note="defects in morphology protein 1 homolog; probable
                     exonuclease V; defects in morphology 1 homolog"
                     /calculated_mol_wt=41685
     Region          71..355
                     /region_name="Exo5"
                     /note="Exonuclease V - a 5' deoxyribonuclease; pfam09810"
                     /db_xref="CDD:430843"
     CDS             1..373
                     /gene="EXO5"
                     /gene_synonym="C1orf176; DEM1; Exo V; hExo5"
                     /coded_by="NM_001346946.2:430..1551"
                     /db_xref="CCDS:CCDS453.1"
                     /db_xref="GeneID:64789"
                     /db_xref="HGNC:HGNC:26115"
                     /db_xref="MIM:618601"
ORIGIN      
        1 maetreeetv saeasgfsdl sdseflefld ledaqeskal vnmpgpsses lgkddkpisl
       61 qnwkrgldil spmerfhlky lyvtdlatqn wcelqtaygk elpgflapek aavldtgasi
      121 hlarelelhd lvtvpvttke dawaikflni llliptlqse ghirefpvfg egegvllvgv
      181 idelhytakg elelaelktr rrpmlpleaq kkkdcfqvsl ykyifdamvq gkvtpaslih
      241 htklclekpl gpsvlrhaqq ggfsvkslgd lmelvflslt lsdlpvidil kieyihqeta
      301 tvlgteivaf kekevrakvq hymaywmghr epqgvdveea wkcrtctyad icewrkgsgv
      361 lsstlapqvk kak
//
LOCUS       NP_057733                851 aa            linear   PRI 31-DEC-2022
DEFINITION  ESF1 homolog [Homo sapiens].
ACCESSION   NP_057733
VERSION     NP_057733.2
DBSOURCE    REFSEQ: accession NM_016649.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 851)
  AUTHORS   Benyamin B, Pourcain B, Davis OS, Davies G, Hansell NK, Brion MJ,
            Kirkpatrick RM, Cents RA, Franic S, Miller MB, Haworth CM, Meaburn
            E, Price TS, Evans DM, Timpson N, Kemp J, Ring S, McArdle W,
            Medland SE, Yang J, Harris SE, Liewald DC, Scheet P, Xiao X,
            Hudziak JJ, de Geus EJ, Jaddoe VW, Starr JM, Verhulst FC, Pennell
            C, Tiemeier H, Iacono WG, Palmer LJ, Montgomery GW, Martin NG,
            Boomsma DI, Posthuma D, McGue M, Wright MJ, Davey Smith G, Deary
            IJ, Plomin R and Visscher PM.
  CONSRTM   Wellcome Trust Case Control Consortium 2 (WTCCC2)
  TITLE     Childhood intelligence is heritable, highly polygenic and
            associated with FNBP1L
  JOURNAL   Mol Psychiatry 19 (2), 253-258 (2014)
   PUBMED   23358156
REFERENCE   2  (residues 1 to 851)
  AUTHORS   Pieragostino D, Agnifili L, Fasanella V, D'Aguanno S, Mastropasqua
            R, Di Ilio C, Sacchetta P, Urbani A and Del Boccio P.
  TITLE     Shotgun proteomics reveals specific modulated protein patterns in
            tears of patients with primary open angle glaucoma naive to therapy
  JOURNAL   Mol Biosyst 9 (6), 1108-1116 (2013)
   PUBMED   23580065
REFERENCE   3  (residues 1 to 851)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   4  (residues 1 to 851)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   5  (residues 1 to 851)
  AUTHORS   Nousiainen M, Sillje HH, Sauer G, Nigg EA and Korner R.
  TITLE     Phosphoproteome analysis of the human mitotic spindle
  JOURNAL   Proc Natl Acad Sci U S A 103 (14), 5391-5396 (2006)
   PUBMED   16565220
REFERENCE   6  (residues 1 to 851)
  AUTHORS   Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI and Mann
            M.
  TITLE     Nucleolar proteome dynamics
  JOURNAL   Nature 433 (7021), 77-83 (2005)
   PUBMED   15635413
REFERENCE   7  (residues 1 to 851)
  AUTHORS   Oda T, Fukuda A, Hagiwara H, Masuho Y, Muramatsu MA, Hisatake K and
            Yamashita T.
  TITLE     ABT1-associated protein (ABTAP), a novel nuclear protein conserved
            from yeast to mammals, represses transcriptional activation by ABT1
  JOURNAL   J Cell Biochem 93 (4), 788-806 (2004)
   PUBMED   15660422
  REMARK    GeneRIF: The Rattus rattus ABT1-associated protein formed a complex
            with ABT1 and suppressed activation of Pol II-directed
            transcription in mammalian cells. It binds and negatively regulates
            ABT1.
REFERENCE   8  (residues 1 to 851)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   9  (residues 1 to 851)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL161659.17, AK000375.1 and AK074299.1.
            On Jan 9, 2002 this sequence version replaced NP_057733.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 both encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.2467661.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2467150
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..851
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.1"
     Protein         1..851
                     /product="ESF1 homolog"
                     /note="ABT1-associated protein"
                     /calculated_mol_wt=98665
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9H501.1)"
     Region          74..134
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            75
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            77
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            79
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            82
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            134
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H501.1)"
     Region          148..328
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            153
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            179
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            180
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            198
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            296
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            298
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9H501.1)"
     Region          301..836
                     /region_name="COG5638"
                     /note="Uncharacterized conserved protein [Function
                     unknown]"
                     /db_xref="CDD:227925"
     Site            311
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            312
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            313
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q9H501.1)"
     Region          542..576
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            614
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H501.1)"
     Region          640..667
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            657
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            663
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            693
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            694
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            735
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9H501.1)"
     Region          794..827
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H501.1)"
     Site            823
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H501.1)"
     CDS             1..851
                     /gene="ESF1"
                     /gene_synonym="ABTAP; bA526K24.1; C20orf6; HDCMC28P"
                     /coded_by="NM_016649.4:142..2697"
                     /db_xref="CCDS:CCDS13117.1"
                     /db_xref="GeneID:51575"
                     /db_xref="HGNC:HGNC:15898"
                     /db_xref="MIM:618765"
ORIGIN      
        1 msskqeimsd qrfrrvakdp rfwempekdr kvkidkrfra mfhdkkfkln yavdkrgrpi
       61 shsttedlkr fydlsdsdsn lsgedskals qkkikkkktq tkkeidsknl vekkketkka
      121 nhkgsenktd ldnsigikkm ktsckfkids nispkkdske ftqknkkekk nivqhttdss
      181 leekqrtlds gtseivkspr iecsktrrem qsvvqlimtr dsdgyenstd gemcdkdale
      241 edsesvseig sdeeseneit svgrasgddd gseddeeede deeedededs edddksdsgp
      301 dlargkgnie tssededdta dlfpeesgfe hawreldkda pradeitrrl avcnmdwdrl
      361 kakdllalfn sfkpkggvif svkiypsefg kermkeeqvq gpvellsipe dapekdwtsr
      421 eklrdyqfkr lkyyyavvdc dspetaskiy edcdglefes scsfidlrfi pdditfddep
      481 kdvasevnlt aykpkyftsa amgtstveit wdetdherit mlnrkfkkee lldmdfqayl
      541 asssedeeei eeelqgddgv nveedgktkk sqkddeeqia kyrqllqviq ekekkgkend
      601 memeikwvpg lkesaeemvk nklegkdklt pweqflekkk ekkrlkrkqk alaeeaseee
      661 lpsdvdlndp yfaeevkqig inkksvksak dgtspeeeie ierqkaemal lmmdededsk
      721 khfnynkive hqnlskkkkk qlmkkkelie ddfevnvnda rfqamytshl fnldpsdpnf
      781 kktkamekil eekarqrerk eqeltqaikk keseiekesq rksidpalsm liksiktkte
      841 qfqarkkqkv k
//
LOCUS       NP_003086                 86 aa            linear   PRI 31-DEC-2022
DEFINITION  small nuclear ribonucleoprotein F isoform 1 [Homo sapiens].
ACCESSION   NP_003086
VERSION     NP_003086.1
DBSOURCE    REFSEQ: accession NM_003095.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 86)
  AUTHORS   Campagne S, de Vries T, Malard F, Afanasyev P, Dorn G, Dedic E,
            Kohlbrecher J, Boehringer D, Clery A and Allain FH.
  TITLE     An in vitro reconstituted U1 snRNP allows the study of the
            disordered regions of the particle and the interactions with
            proteins and ligands
  JOURNAL   Nucleic Acids Res 49 (11), e63 (2021)
   PUBMED   33677607
REFERENCE   2  (residues 1 to 86)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 86)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 86)
  AUTHORS   Yi H, Mu L, Shen C, Kong X, Wang Y, Hou Y and Zhang R.
  TITLE     Negative cooperativity between Gemin2 and RNA provides insights
            into RNA selection and the SMN complex's release in snRNP assembly
  JOURNAL   Nucleic Acids Res 48 (2), 895-911 (2020)
   PUBMED   31799625
REFERENCE   5  (residues 1 to 86)
  AUTHORS   van der Feltz C and Hoskins AA.
  TITLE     Structural and functional modularity of the U2 snRNP in pre-mRNA
            splicing
  JOURNAL   Crit Rev Biochem Mol Biol 54 (5), 443-465 (2019)
   PUBMED   31744343
  REMARK    Review article
REFERENCE   6  (residues 1 to 86)
  AUTHORS   Plessel G, Luhrmann R and Kastner B.
  TITLE     Electron microscopy of assembly intermediates of the snRNP core:
            morphological similarities between the RNA-free (E.F.G) protein
            heteromer and the intact snRNP core
  JOURNAL   J Mol Biol 265 (2), 87-94 (1997)
   PUBMED   9020971
REFERENCE   7  (residues 1 to 86)
  AUTHORS   Hermann H, Fabrizio P, Raker VA, Foulaki K, Hornig H, Brahms H and
            Luhrmann R.
  TITLE     snRNP Sm proteins share two evolutionarily conserved sequence
            motifs which are involved in Sm protein-protein interactions
  JOURNAL   EMBO J 14 (9), 2076-2088 (1995)
   PUBMED   7744013
REFERENCE   8  (residues 1 to 86)
  AUTHORS   Sauterer RA, Goyal A and Zieve GW.
  TITLE     Cytoplasmic assembly of small nuclear ribonucleoprotein particles
            from 6 S and 20 S RNA-free intermediates in L929 mouse fibroblasts
  JOURNAL   J Biol Chem 265 (2), 1048-1058 (1990)
   PUBMED   1688550
REFERENCE   9  (residues 1 to 86)
  AUTHORS   Feeney RJ, Sauterer RA, Feeney JL and Zieve GW.
  TITLE     Cytoplasmic assembly and nuclear accumulation of mature small
            nuclear ribonucleoprotein particles
  JOURNAL   J Biol Chem 264 (10), 5776-5783 (1989)
   PUBMED   2522439
REFERENCE   10 (residues 1 to 86)
  AUTHORS   Woppmann A, Rinke J and Luhrmann R.
  TITLE     Direct cross-linking of snRNP proteins F and 70K to snRNAs by
            ultra-violet radiation in situ
  JOURNAL   Nucleic Acids Res 16 (23), 10985-11004 (1988)
   PUBMED   2974540
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090001.19.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC002505.2, BM670308.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000266735.10/ ENSP00000266735.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..86
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     Protein         1..86
                     /product="small nuclear ribonucleoprotein F isoform 1"
                     /note="small nuclear ribonucleoprotein F; sm protein F"
                     /calculated_mol_wt=9594
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine. /evidence=ECO:0000269|Ref.6;
                     propagated from UniProtKB/Swiss-Prot (P62306.1)"
     Region          6..74
                     /region_name="Sm_F"
                     /note="Sm protein F; cd01722"
                     /db_xref="CDD:212469"
     Site            order(6..7,11,22..25,29,37,39..42,59..74)
                     /site_type="other"
                     /note="heptamer interface [polypeptide binding]"
                     /db_xref="CDD:212469"
     Site            order(19..25,27..39,41..45)
                     /site_type="other"
                     /note="Sm1 motif"
                     /db_xref="CDD:212469"
     Site            order(22,24..25,28,38..41,65..68)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:212469"
     Site            61..72
                     /site_type="other"
                     /note="Sm2 motif"
                     /db_xref="CDD:212469"
     CDS             1..86
                     /gene="SNRPF"
                     /gene_synonym="Sm-F; SMF; snRNP-F"
                     /coded_by="NM_003095.5:123..383"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9055.1"
                     /db_xref="GeneID:6636"
                     /db_xref="HGNC:HGNC:11162"
                     /db_xref="MIM:603541"
ORIGIN      
        1 mslplnpkpf lngltgkpvm vklkwgmeyk gylvsvdgym nmqlanteey idgalsghlg
       61 evlircnnvl yirgveeeee dgemre
//
LOCUS       NP_001381825             346 aa            linear   PRI 31-DEC-2022
DEFINITION  LIM and senescent cell antigen-like-containing domain protein 1
            isoform l [Homo sapiens].
ACCESSION   NP_001381825
VERSION     NP_001381825.1
DBSOURCE    REFSEQ: accession NM_001394896.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 346)
  AUTHORS   Su J, Guo L and Wu C.
  TITLE     A mechanoresponsive PINCH-1-Notch2 interaction regulates smooth
            muscle differentiation of human placental mesenchymal stem cells
  JOURNAL   Stem Cells 39 (5), 650-668 (2021)
   PUBMED   33529444
  REMARK    GeneRIF: A mechanoresponsive PINCH-1-Notch2 interaction regulates
            smooth muscle differentiation of human placental mesenchymal stem
            cells.
REFERENCE   2  (residues 1 to 346)
  AUTHORS   Yang H, Lin L, Sun K, Zhang T, Chen W, Li L, Xie Y, Wu C, Wei Z and
            Yu C.
  TITLE     Complex structures of Rsu1 and PINCH1 reveal a regulatory mechanism
            of the ILK/PINCH/Parvin complex for F-actin dynamics
  JOURNAL   Elife 10, e64395 (2021)
   PUBMED   33587032
  REMARK    GeneRIF: Complex structures of Rsu1 and PINCH1 reveal a regulatory
            mechanism of the ILK/PINCH/Parvin complex for F-actin dynamics.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 346)
  AUTHORS   Fukuda K, Lu F and Qin J.
  TITLE     Molecular basis for Ras suppressor-1 binding to PINCH-1 in focal
            adhesion assembly
  JOURNAL   J Biol Chem 296, 100685 (2021)
   PUBMED   33891945
  REMARK    GeneRIF: Molecular basis for Ras suppressor-1 binding to PINCH-1 in
            focal adhesion assembly.
REFERENCE   4  (residues 1 to 346)
  AUTHORS   Guo L, Cui C, Wang J, Yuan J, Yang Q, Zhang P, Su W, Bao R, Ran J
            and Wu C.
  TITLE     PINCH-1 regulates mitochondrial dynamics to promote proline
            synthesis and tumor growth
  JOURNAL   Nat Commun 11 (1), 4913 (2020)
   PUBMED   33004813
  REMARK    GeneRIF: PINCH-1 regulates mitochondrial dynamics to promote
            proline synthesis and tumor growth.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 346)
  AUTHORS   Kim YC and Cutler ML.
  TITLE     MicroRNA-Dependent Targeting of RSU1 and the IPP Adhesion Complex
            Regulates the PTEN/PI3K/AKT Signaling Pathway in Breast Cancer Cell
            Lines
  JOURNAL   Int J Mol Sci 21 (15), 5458 (2020)
   PUBMED   32751711
  REMARK    GeneRIF: MicroRNA-Dependent Targeting of RSU1 and the IPP Adhesion
            Complex Regulates the PTEN/PI3K/AKT Signaling Pathway in Breast
            Cancer Cell Lines.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 346)
  AUTHORS   Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH,
            Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT and Old
            LJ.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
REFERENCE   7  (residues 1 to 346)
  AUTHORS   Gubin AN, Njoroge JM, Bouffard GG and Miller JL.
  TITLE     Gene expression in proliferating human erythroid cells
  JOURNAL   Genomics 59 (2), 168-177 (1999)
   PUBMED   10409428
REFERENCE   8  (residues 1 to 346)
  AUTHORS   Tu Y, Li F, Goicoechea S and Wu C.
  TITLE     The LIM-only protein PINCH directly interacts with integrin-linked
            kinase and is recruited to integrin-rich sites in spreading cells
  JOURNAL   Mol Cell Biol 19 (3), 2425-2434 (1999)
   PUBMED   10022929
REFERENCE   9  (residues 1 to 346)
  AUTHORS   Tu Y, Li F and Wu C.
  TITLE     Nck-2, a novel Src homology2/3-containing adaptor protein that
            interacts with the LIM-only protein PINCH and components of growth
            factor receptor kinase-signaling pathways
  JOURNAL   Mol Biol Cell 9 (12), 3367-3382 (1998)
   PUBMED   9843575
REFERENCE   10 (residues 1 to 346)
  AUTHORS   Rearden A.
  TITLE     A new LIM protein containing an autoepitope homologous to
            'senescent cell antigen'
  JOURNAL   Biochem Biophys Res Commun 201 (3), 1124-1131 (1994)
   PUBMED   7517666
  REMARK    Erratum:[Biochem Biophys Res Commun 2001 Apr 13;282(4):1074]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012487.12 and AC010095.6.
            
            Summary: The protein encoded by this gene is an adaptor protein
            which contains five LIM domains, or double zinc fingers. The
            protein is likely involved in integrin signaling through its LIM
            domain-mediated interaction with integrin-linked kinase, found in
            focal adhesion plaques. It is also thought to act as a bridge
            linking integrin-linked kinase to NCK adaptor protein 2, which is
            involved in growth factor receptor kinase signaling pathways. Its
            localization to the periphery of spreading cells also suggests that
            this protein may play a role in integrin-mediated cell adhesion or
            spreading. Several transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.2821879.1,
                                           SRR14372079.3267871.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2151741
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..346
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q12.3"
     Protein         1..346
                     /product="LIM and senescent cell antigen-like-containing
                     domain protein 1 isoform l"
                     /note="LIM and senescent cell antigen-like-containing
                     domain protein 1; renal carcinoma antigen NY-REN-48; LIM
                     and senescent cell antigen-like domains 1; LIM-type zinc
                     finger domains 1; particularly interesting new Cys-His
                     protein 1"
                     /calculated_mol_wt=39508
     Region          22..80
                     /region_name="LIM1_PINCH"
                     /note="The first LIM domain of protein PINCH; cd09331"
                     /db_xref="CDD:188717"
     Site            order(22,25,44,47,50,53,71,74)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188717"
     Site            order(24..25,27,49,51..55,65..66,68,73..74,76..80)
                     /site_type="other"
                     /note="ILK binding interface"
                     /db_xref="CDD:188717"
     Region          83..134
                     /region_name="LIM2_PINCH"
                     /note="The second LIM domain of protein PINCH; cd09332"
                     /db_xref="CDD:188718"
     Site            order(83,86,103,106,109,112,130,133)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188718"
     Region          147..197
                     /region_name="LIM3_PINCH"
                     /note="The third LIM domain of protein PINCH; cd09333"
                     /db_xref="CDD:188719"
     Site            order(147,150,167,170,173,176,193,196)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188719"
     Region          203..256
                     /region_name="LIM4_PINCH"
                     /note="The fourth LIM domain of protein PINCH; cd09334"
                     /db_xref="CDD:188720"
     Site            order(204,208..211)
                     /site_type="other"
                     /note="N(i)ck binding interface"
                     /db_xref="CDD:188720"
     Site            order(205,208,225,228,231,234,252,255)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188720"
     Region          264..317
                     /region_name="LIM5_PINCH"
                     /note="The fifth LIM domain of protein PINCH; cd09335"
                     /db_xref="CDD:188721"
     Site            order(264,267,284,287,290,293,312,315)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188721"
     CDS             1..346
                     /gene="LIMS1"
                     /gene_synonym="PINCH; PINCH-1; PINCH1"
                     /coded_by="NM_001394896.1:94..1134"
                     /note="isoform l is encoded by transcript variant 14"
                     /db_xref="GeneID:3987"
                     /db_xref="HGNC:HGNC:6616"
                     /db_xref="MIM:602567"
ORIGIN      
        1 mlgvaagmth snmanalasa tcerckggfa paekivnsng elyheqcfvc aqcfqqfpeg
       61 lfyefegrky cehdfqmlfa pcchqcgefi igrvikamnn swhpecfrcd lcqevladig
      121 fvknagrhlc rpchnrekar glgkyicqkc haiideqpli fkndpyhpdh fncancgkel
      181 tadarelkge lyclpchdkm gvpicgacrr piegrvvnam gkqwhvehfv cakcekpflg
      241 hrhyerkgla ycethynqlf gdvcfhcnrv iegdvvsaln kawcvncfac stcntkltlk
      301 dkfveidlkp vckhcyekmp eefkrrlakr ereakdkdkq kkkkpe
//
LOCUS       NP_001401551             761 aa            linear   PRI 01-JAN-2023
DEFINITION  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic
            phosphodiesterase 8B isoform 11 [Homo sapiens].
ACCESSION   NP_001401551
VERSION     NP_001401551.1
DBSOURCE    REFSEQ: accession NM_001414622.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 761)
  AUTHORS   Campolo F, Capponi C, Tarsitano MG, Tenuta M, Pozza C, Gianfrilli
            D, Magliocca F, Venneri MA, Vicini E, Lenzi A, Isidori AM and
            Barbagallo F.
  TITLE     cAMP-specific phosphodiesterase 8A and 8B isoforms are
            differentially expressed in human testis and Leydig cell tumor
  JOURNAL   Front Endocrinol (Lausanne) 13, 1010924 (2022)
   PUBMED   36277728
  REMARK    GeneRIF: cAMP-specific phosphodiesterase 8A and 8B isoforms are
            differentially expressed in human testis and Leydig cell tumor.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 761)
  AUTHORS   Sun Z, Yuan X, Du P and Chen P.
  TITLE     High Expression of PDE8B and DUOX2 Associated with Ability of
            Metastasis in Thyroid Carcinoma
  JOURNAL   Comput Math Methods Med 2021, 2362195 (2021)
   PUBMED   34966441
  REMARK    GeneRIF: High Expression of PDE8B and DUOX2 Associated with Ability
            of Metastasis in Thyroid Carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 761)
  AUTHORS   Ni J, Yi X, Liu Z, Sun W, Yuan Y, Yang J, Jiang H, Shen L, Tang B,
            Liu Y and Wang J.
  TITLE     Clinical findings of autosomal-dominant striatal degeneration and
            PDE8B mutation screening in parkinsonism and related disorders
  JOURNAL   Parkinsonism Relat Disord 69, 94-98 (2019)
   PUBMED   31726290
  REMARK    GeneRIF: Clinical findings of autosomal-dominant striatal
            degeneration and PDE8B mutation screening in parkinsonism and
            related disorders.
REFERENCE   4  (residues 1 to 761)
  AUTHORS   Fan TS, Wu RM, Lin HI, Cheng C and Lin CH.
  TITLE     PDE8B mutation is not associated with Parkinson's disease in a
            Taiwanese population
  JOURNAL   Neurobiol Aging 71, 265 (2018)
   PUBMED   29909144
  REMARK    GeneRIF: Study shows that PDE8B may not play a major role in
            familial and early-onset Parkinson disease without distinctive
            lesions of the striatum on brain MRI in this Taiwanese population.
REFERENCE   5  (residues 1 to 761)
  AUTHORS   Soto-Pedre E, Siddiqui MK, Doney AS, Palmer CNA, Pearson ER and
            Leese GP.
  TITLE     Replication confirms the association of loci in FOXE1, PDE8B, CAPZB
            and PDE10A with thyroid traits: a Genetics of Diabetes Audit and
            Research Tayside study (GoDARTS)
  JOURNAL   Pharmacogenet Genomics 27 (10), 356-362 (2017)
   PUBMED   28727628
  REMARK    GeneRIF: replication confirmed at genome-wide significance the
            association of loci at FOXE1 with hypothyroidism, and PDE8B, CAPZB
            and PDE10A with serum TSH. A total of 12 SNPs seemed to explain
            nearly 7% of the serum TSH variation
REFERENCE   6  (residues 1 to 761)
  AUTHORS   Perez-Torres S, Cortes R, Tolnay M, Probst A, Palacios JM and
            Mengod G.
  TITLE     Alterations on phosphodiesterase type 7 and 8 isozyme mRNA
            expression in Alzheimer's disease brains examined by in situ
            hybridization
  JOURNAL   Exp Neurol 182 (2), 322-334 (2003)
   PUBMED   12895443
  REMARK    GeneRIF: In Alzheimer's disease brains we found that PDE8B was the
            only PDE isozyme showing a significant increase, in cortical areas
            and parts of the hippocampal formation, at Braak stages III-VI
REFERENCE   7  (residues 1 to 761)
  AUTHORS   Gamanuma M, Yuasa K, Sasaki T, Sakurai N, Kotera J and Omori K.
  TITLE     Comparison of enzymatic characterization and gene organization of
            cyclic nucleotide phosphodiesterase 8 family in humans
  JOURNAL   Cell Signal 15 (6), 565-574 (2003)
   PUBMED   12681444
  REMARK    GeneRIF: Comparison of enzymatic characterization and gene
            organization of PDE8B and PDE8A.
REFERENCE   8  (residues 1 to 761)
  AUTHORS   Hayashi M, Shimada Y, Nishimura Y, Hama T and Tanaka T.
  TITLE     Genomic organization, chromosomal localization, and alternative
            splicing of the human phosphodiesterase 8B gene
  JOURNAL   Biochem Biophys Res Commun 297 (5), 1253-1258 (2002)
   PUBMED   12372422
  REMARK    GeneRIF: selective usage of exons produces three different PDE8B
            variants that exhibit a tissue-specific expression pattern
REFERENCE   9  (residues 1 to 761)
  AUTHORS   Persani L, Borgato S, Lania A, Filopanti M, Mantovani G, Conti M
            and Spada A.
  TITLE     Relevant cAMP-specific phosphodiesterase isoforms in human
            pituitary: effect of Gs(alpha) mutations
  JOURNAL   J Clin Endocrinol Metab 86 (8), 3795-3800 (2001)
   PUBMED   11502813
REFERENCE   10 (residues 1 to 761)
  AUTHORS   Hayashi M, Matsushima K, Ohashi H, Tsunoda H, Murase S, Kawarada Y
            and Tanaka T.
  TITLE     Molecular cloning and characterization of human PDE8B, a novel
            thyroid-specific isozyme of 3',5'-cyclic nucleotide
            phosphodiesterase
  JOURNAL   Biochem Biophys Res Commun 250 (3), 751-756 (1998)
   PUBMED   9784418
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008581.11, AC022422.5,
            KF457931.1, KC877015.1 and AC010234.5.
            
            Summary: The protein encoded by this gene is a cyclic nucleotide
            phosphodiesterase (PDE) that catalyzes the hydrolysis of the second
            messenger cAMP. The encoded protein, which does not hydrolyze cGMP,
            is resistant to several PDE inhibitors. Defects in this gene are a
            cause of autosomal dominant striatal degeneration (ADSD). Several
            transcript variants encoding different isoforms have been found for
            this gene.[provided by RefSeq, Jul 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.151206.1,
                                           SRR1660805.224630.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            readthrough transcript :: includes exons from GeneID 728723
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..761
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.3"
     Protein         1..761
                     /product="high affinity cAMP-specific and IBMX-insensitive
                     3',5'-cyclic phosphodiesterase 8B isoform 11"
                     /EC_number="3.1.4.53"
                     /note="3',5' cyclic nucleotide phosphodiesterase 8B; high
                     affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic
                     phosphodiesterase 8B; cell proliferation-inducing gene 22
                     protein"
                     /calculated_mol_wt=86219
     Region          24..251
                     /region_name="PAS"
                     /note="PAS domain [Signal transduction mechanisms];
                     COG2202"
                     /db_xref="CDD:225112"
     Region          156..253
                     /region_name="PAS_9"
                     /note="PAS domain; pfam13426"
                     /db_xref="CDD:433196"
     Region          490..737
                     /region_name="PDEase_I"
                     /note="3'5'-cyclic nucleotide phosphodiesterase;
                     pfam00233"
                     /db_xref="CDD:425542"
     Site            order(495,531..532,657)
                     /site_type="other"
                     /note="Zn2+ binding site [ion binding]"
                     /db_xref="CDD:238032"
     Site            532
                     /site_type="other"
                     /note="Mg2+ binding site [ion binding]"
                     /db_xref="CDD:238032"
     CDS             1..761
                     /gene="PDE8B"
                     /gene_synonym="ADSD; PPNAD3"
                     /coded_by="NM_001414622.1:1141..3426"
                     /note="isoform 11 is encoded by transcript variant 26"
                     /db_xref="GeneID:8622"
                     /db_xref="HGNC:HGNC:8794"
                     /db_xref="MIM:603390"
ORIGIN      
        1 mrltqdpiqv llifakedsq sdgfwwacdr agyrcniart pesalecfld khheiividh
       61 rqtqnfdaea vcrsiratnp sehtvilavv srvsddheea svlpllhagf nrrfmenssi
      121 iacyneliqi ehgevrsqfk lracnsvfta ldhcheaiei tsddhviqyv npafermmgy
      181 hkgellgkel adlpksdknr adlldtintc ikkgkewqgv yyarrksgds iqqhvkitpv
      241 igqggkirhf vslkklcctt dnnkqihkih rdsgdnsqte phsfryknrr kesidvksis
      301 srgsdapslq nrrypsmari hsmtieapit kviniinaaq enspvtvaea ldrvleilrt
      361 telyspqlgt kdedphtsdl vgglmtdglr rlsgneyvft knvhqshshl ampitindvp
      421 pcisqlldne eswdfnifel eaithkrplv ylglkvfsrf gvceflncse ttlrawfqvi
      481 eanyhssnay hnsthaadvl hatafflgke rvkgsldqld evaaliaatv hdvdhpgrtn
      541 sflcnagsel avlyndtavl eshhtalafq ltvkdtkcni fknidrnhyr tlrqaiidmv
      601 latemtkhfe hvnkfvnsin kpmaaeiegs dcecnpagkn fpenqilikr mmikcadvan
      661 pcrpldlcie wagriseeyf aqtdeekrqg lpvvmpvfdr ntcsipksqi sfidyfitdm
      721 fdawdafahl palmqhladn ykhwktlddl kckslrlpsd s
//
LOCUS       NP_361012                179 aa            linear   PRI 22-JAN-2023
DEFINITION  SCAN domain-containing protein 1 [Homo sapiens].
ACCESSION   NP_361012
VERSION     NP_361012.3
DBSOURCE    REFSEQ: accession NM_033630.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 179)
  AUTHORS   Eguchi T, Csizmadia E, Kawai H, Sheta M, Yoshida K, Prince TL,
            Wegiel B and Calderwood SK.
  TITLE     SCAND1 Reverses Epithelial-to-Mesenchymal Transition (EMT) and
            Suppresses Prostate Cancer Growth and Migration
  JOURNAL   Cells 11 (24), 3993 (2022)
   PUBMED   36552758
  REMARK    GeneRIF: SCAND1 Reverses Epithelial-to-Mesenchymal Transition (EMT)
            and Suppresses Prostate Cancer Growth and Migration.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 179)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 179)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 179)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 179)
  AUTHORS   Carneiro FR, Silva TC, Alves AC, Haline-Vaz T, Gozzo FC and Zanchin
            NI.
  TITLE     Spectroscopic characterization of the tumor antigen NY-REN-21 and
            identification of heterodimer formation with SCAND1
  JOURNAL   Biochem Biophys Res Commun 343 (1), 260-268 (2006)
   PUBMED   16540086
  REMARK    GeneRIF: This result indicates that NY-REN-21 can function either
            as a homodimer or as a heterodimer with SCAND1.
REFERENCE   6  (residues 1 to 179)
  AUTHORS   Babb R and Bowen BR.
  TITLE     SDP1 is a peroxisome-proliferator-activated receptor gamma 2
            co-activator that binds through its SCAN domain
  JOURNAL   Biochem J 370 (Pt 2), 719-727 (2003)
   PUBMED   12444922
REFERENCE   7  (residues 1 to 179)
  AUTHORS   Sander TL and Morris JF.
  TITLE     Characterization of the SCAN box encoding RAZ1 gene: analysis of
            cDNA transcripts, expression, and cellular localization
  JOURNAL   Gene 296 (1-2), 53-64 (2002)
   PUBMED   12383503
REFERENCE   8  (residues 1 to 179)
  AUTHORS   Schumacher C, Wang H, Honer C, Ding W, Koehn J, Lawrence Q, Coulis
            CM, Wang LL, Ballinger D, Bowen BR and Wagner S.
  TITLE     The SCAN domain mediates selective oligomerization
  JOURNAL   J Biol Chem 275 (22), 17173-17179 (2000)
   PUBMED   10747874
REFERENCE   9  (residues 1 to 179)
  AUTHORS   Sander TL, Haas AL, Peterson MJ and Morris JF.
  TITLE     Identification of a novel SCAN box-related protein that interacts
            with MZF1B. The leucine-rich SCAN box mediates hetero- and
            homoprotein associations
  JOURNAL   J Biol Chem 275 (17), 12857-12867 (2000)
   PUBMED   10777584
REFERENCE   10 (residues 1 to 179)
  AUTHORS   Williams AJ, Blacklow SC and Collins T.
  TITLE     The zinc finger-associated SCAN box is a conserved oligomerization
            domain
  JOURNAL   Mol Cell Biol 19 (12), 8526-8535 (1999)
   PUBMED   10567577
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL109965.34.
            On Jul 27, 2020 this sequence version replaced NP_361012.2.
            
            Summary: This gene encodes a SCAN box domain-containing protein.
            The SCAN domain is a highly conserved, leucine-rich motif of
            approximately 60 aa originally found within a subfamily of zinc
            finger proteins. This gene belongs to a family of genes that encode
            an isolated SCAN domain, but no zinc finger motif. This protein
            binds to and may regulate the function of the transcription factor
            myeloid zinc finger 1B. Alternate splicing results in multiple
            transcript variants.[provided by RefSeq, Jan 2011].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            contains an extra segment in the 5' coding region, compared to
            variant 1. These differences cause translation initiation at an
            upstream start codon, compared to variant 1. The encoded protein
            (isoform 2) has a longer N-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF207829.1, BM923953.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305978.7/ ENSP00000301995.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..179
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     Protein         1..179
                     /product="SCAN domain-containing protein 1"
                     /note="SCAN-related protein RAZ1"
                     /calculated_mol_wt=18951
     Region          1..104
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P57086.1)"
     Region          104..>162
                     /region_name="SCAN"
                     /note="SCAN domain; pfam02023"
                     /db_xref="CDD:426568"
     Site            order(111..112,114..116,121..123,125..126,129..130,
                     133..134,136..139,143..144,147..148,151..153,155..156,
                     158..161)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:153421"
     CDS             1..179
                     /gene="SCAND1"
                     /gene_synonym="RAZ1; SDP1"
                     /coded_by="NM_033630.3:111..650"
                     /db_xref="GeneID:51282"
                     /db_xref="HGNC:HGNC:10566"
                     /db_xref="MIM:610416"
ORIGIN      
        1 maatepilaa tgspaavppe klegagsssa perncvgssl peasppapep sspnaavpea
       61 iptpraaasa alelplgpap vsvapqaeae arstpgpags rlgpetfrqr frqfryqdaa
      121 gpreafrqlr elsrqwlrpd irtkeqivem lvqeqllail peaararrir rrtdvritg
//
LOCUS       NP_001273510            1649 aa            linear   PRI 12-MAR-2023
DEFINITION  PHD and RING finger domain-containing protein 1 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001273510 XP_005253081
VERSION     NP_001273510.1
DBSOURCE    REFSEQ: accession NM_001286581.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1649)
  AUTHORS   An CH, Son HJ, Yoo NJ and Lee SH.
  TITLE     Downregulation of a putative tumor suppressor gene PHRF1 in gastric
            and colorectal cancers
  JOURNAL   Pathol Res Pract 216 (6), 152984 (2020)
   PUBMED   32360246
  REMARK    GeneRIF: Downregulation of a putative tumor suppressor gene PHRF1
            in gastric and colorectal cancers.
REFERENCE   2  (residues 1 to 1649)
  AUTHORS   Wang Y, Wang H, Pan T, Li L, Li J and Yang H.
  TITLE     Overexpression of PHRF1 attenuates the proliferation and
            tumorigenicity of non-small cell lung cancer cells
  JOURNAL   Oncotarget 7 (39), 64360-64370 (2016)
   PUBMED   27608840
  REMARK    GeneRIF: Overexpression of PHRF1 attenuated the proliferation and
            tumorigenicity of non-small cell lung cancer cell lines.
REFERENCE   3  (residues 1 to 1649)
  AUTHORS   Chang CF, Chu PC, Wu PY, Yu MY, Lee JY, Tsai MD and Chang MS.
  TITLE     PHRF1 promotes genome integrity by modulating non-homologous
            end-joining
  JOURNAL   Cell Death Dis 6 (4), e1716 (2015)
   PUBMED   25855964
  REMARK    GeneRIF: Results suggest that PHRF1 may combine with H3K36
            methylation and NBS1 to promote NHEJ and stabilize genomic
            integrity upon DNA damage insults.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1649)
  AUTHORS   Martin JE, Assassi S, Diaz-Gallo LM, Broen JC, Simeon CP, Castellvi
            I, Vicente-Rabaneda E, Fonollosa V, Ortego-Centeno N, Gonzalez-Gay
            MA, Espinosa G, Carreira P, Camps M, Sabio JM, D'alfonso S, Vonk
            MC, Voskuyl AE, Schuerwegh AJ, Kreuter A, Witte T, Riemekasten G,
            Hunzelmann N, Airo P, Beretta L, Scorza R, Lunardi C, Van Laar J,
            Chee MM, Worthington J, Herrick A, Denton C, Fonseca C, Tan FK,
            Arnett F, Zhou X, Reveille JD, Gorlova O, Koeleman BP, Radstake TR,
            Vyse T, Mayes MD, Alarcon-Riquelme ME and Martin J.
  CONSRTM   Spanish Scleroderma Group; SLEGEN consortium; U.S. Scleroderma GWAS
            group; BIOLUPUS
  TITLE     A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS
            reveals new shared susceptibility loci
  JOURNAL   Hum Mol Genet 22 (19), 4021-4029 (2013)
   PUBMED   23740937
REFERENCE   5  (residues 1 to 1649)
  AUTHORS   Ettahar A, Ferrigno O, Zhang MZ, Ohnishi M, Ferrand N, Prunier C,
            Levy L, Bourgeade MF, Bieche I, Romero DG, Colland F and Atfi A.
  TITLE     Identification of PHRF1 as a tumor suppressor that promotes the
            TGF-beta cytostatic program through selective release of
            TGIF-driven PML inactivation
  JOURNAL   Cell Rep 4 (3), 530-541 (2013)
   PUBMED   23911286
  REMARK    GeneRIF: The PHRF1 gene is deleted or silenced in a high proportion
            of human breast cancer samples and cancer cell lines.
REFERENCE   6  (residues 1 to 1649)
  AUTHORS   Webb R, Kelly JA, Somers EC, Hughes T, Kaufman KM, Sanchez E, Nath
            SK, Bruner G, Alarcon-Riquelme ME, Gilkeson GS, Kamen DL,
            Richardson BC, Harley JB and Sawalha AH.
  TITLE     Early disease onset is predicted by a higher genetic risk for lupus
            and is associated with a more severe phenotype in lupus patients
  JOURNAL   Ann Rheum Dis 70 (1), 151-156 (2011)
   PUBMED   20881011
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   7  (residues 1 to 1649)
  AUTHORS   Sanchez E, Webb RD, Rasmussen A, Kelly JA, Riba L, Kaufman KM,
            Garcia-de la Torre I, Moctezuma JF, Maradiaga-Cecena MA,
            Cardiel-Rios MH, Acevedo E, Cucho-Venegas M, Garcia MA, Gamron S,
            Pons-Estel BA, Vasconcelos C, Martin J, Tusie-Luna T, Harley JB,
            Richardson B, Sawalha AH and Alarcon-Riquelme ME.
  TITLE     Genetically determined Amerindian ancestry correlates with
            increased frequency of risk alleles for systemic lupus
            erythematosus
  JOURNAL   Arthritis Rheum 62 (12), 3722-3729 (2010)
   PUBMED   20848568
  REMARK    GeneRIF: Observational study and meta-analysis of gene-disease
            association. (HuGE Navigator)
REFERENCE   8  (residues 1 to 1649)
  AUTHORS   Salloum R, Franek BS, Kariuki SN, Rhee L, Mikolaitis RA, Jolly M,
            Utset TO and Niewold TB.
  TITLE     Genetic variation at the IRF7/PHRF1 locus is associated with
            autoantibody profile and serum interferon-alpha activity in lupus
            patients
  JOURNAL   Arthritis Rheum 62 (2), 553-561 (2010)
   PUBMED   20112359
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 1649)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   10 (residues 1 to 1649)
  AUTHORS   Harley JB, Alarcon-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP,
            Moser KL, Tsao BP, Vyse TJ, Langefeld CD, Nath SK, Guthridge JM,
            Cobb BL, Mirel DB, Marion MC, Williams AH, Divers J, Wang W, Frank
            SG, Namjou B, Gabriel SB, Lee AT, Gregersen PK, Behrens TW, Taylor
            KE, Fernando M, Zidovetzki R, Gaffney PM, Edberg JC, Rioux JD,
            Ojwang JO, James JA, Merrill JT, Gilkeson GS, Seldin MF, Yin H,
            Baechler EC, Li QZ, Wakeland EK, Bruner GR, Kaufman KM and Kelly
            JA.
  CONSRTM   International Consortium for Systemic Lupus Erythematosus Genetics
            (SLEGEN)
  TITLE     Genome-wide association scan in women with systemic lupus
            erythematosus identifies susceptibility variants in ITGAM, PXK,
            KIAA1542 and other loci
  JOURNAL   Nat Genet 40 (2), 204-210 (2008)
   PUBMED   18204446
  REMARK    GeneRIF: Genome-wide association study of gene-disease association.
            (HuGE Navigator)
            GeneRIF: study presents four new regions having genetic
            associations with systemic lupus erythematosus in women of European
            descent: ITGAM, KIAA1542, PXK and rs10798269
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA656880.1, BC146771.1 and AP006284.2.
            On Nov 8, 2013 this sequence version replaced XP_005253081.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC146771.1, AB040975.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264555.10/ ENSP00000264555.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1649
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     Protein         1..1649
                     /product="PHD and RING finger domain-containing protein 1
                     isoform 1"
                     /note="PHD and RING finger domain-containing protein 1;
                     CTD-binding SR-like protein rA9; protein phosphatase 1,
                     regulatory subunit 125"
                     /calculated_mol_wt=178536
     Region          1..79
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            5
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Region          <49..106
                     /region_name="DNA_pol_phi"
                     /note="DNA polymerase phi; cl42094"
                     /db_xref="CDD:455439"
     Region          102..152
                     /region_name="mRING-HC-C3HC3D_PHRF1"
                     /note="Modified RING finger, HC subclass (C3HC3D-type),
                     found in PHD and RING finger domain-containing protein 1
                     (PHRF1) and similar proteins; cd16635"
                     /db_xref="CDD:438297"
     Region          185..230
                     /region_name="PHD_PHRF1"
                     /note="PHD finger found in PHD and RING finger
                     domain-containing protein 1 (PHRF1); cd15536"
                     /db_xref="CDD:277011"
     Site            order(185,197..201,205,225)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277011"
     Region          324..398
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            330
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            445
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q63625; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            455
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Region          534..600
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Region          644..871
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            814
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            845
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            846
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            864
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            867
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Region          888..1240
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            915
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            917
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            936
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            973
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            991
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            1124
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            1128
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            1202
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            1229
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Region          1281..1395
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Region          <1289..1555
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            1359
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            1360
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            1371
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Site            1404
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Region          1407..1439
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Region          1455..1486
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Region          1526..1556
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     Region          1630..1649
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1Y6.3)"
     CDS             1..1649
                     /gene="PHRF1"
                     /gene_synonym="PPP1R125; RNF221"
                     /coded_by="NM_001286581.2:145..5094"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS65988.1"
                     /db_xref="GeneID:57661"
                     /db_xref="HGNC:HGNC:24351"
                     /db_xref="MIM:611780"
ORIGIN      
        1 mdddsldelv arspgpdghp qvgpadpagd feessvgssg dsgddsdseh gdgtdgedeg
       61 aseeedledr sgsedseddg etllevagtq gkleaagsfn sdddaescpi clnafrdqav
      121 gtpencahyf cldcivewsk nanscpvdrt lfkciciraq fggkilrkip ventkaseee
      181 edptfcevcg rsdredrlll cdgcdagyhm ecldpplqev pvdewfcpec aapgvvlaad
      241 agpvseeevs llladvvptt srlrpragrt raiartrqse rvratvnrnr istarrvqht
      301 pgrlgsslld eaieavatgl stavyqrplt prtparrkrk trrrkkvpgr kktpsgpsak
      361 skssatrskk rqhrvkkrrg kkvkseattr sriartlglr rpvhsscips vlkpvepslg
      421 llradigaas lslfgdpyel dpfdsseels anplsplsak rralsrsalq shqpvarpvs
      481 vglsrrrlpa avpepdleee pvpdllgsil sgqsllmlgs sdviihrdgs lsakraapvs
      541 fqrnsgslsr geegfkgclq pralpsgspa qgpsgnrpqs tglscqgrsr tpartagapv
      601 rldlpaapga vqarnlsngs vpgfrqshsp wfngtnkhtl plasaaskis srdskppcrs
      661 vvpgpplkpa prrtdiselp ripkirrddg ggrrdaapah gqsieipsac isrltgregt
      721 gqpgrgtrae seassrvpre pgvhtgssrp papsshgsla plgpsrgkgv gstfesfrin
      781 ipgnmahssq lsspgfcntf rpvddkeqrk enpsplfsik ktkqlrsevy dpsdptgsds
      841 sapgsspers gpgllpseit rtisinspka qtvqavrcvt sytvesifgt epepplgpss
      901 amsklrgava aegasdtere eptesqglaa rlrrpsppep wdeedgascs tffgseertv
      961 tcvtvvepea ppspdvlqaa thrvvelrpp srsrstsssr srkkakrkrv srehgrtrsg
     1021 trsesrdrss rsaspsvgee rprrqrskak srrsssdrss srerakrkka kdksrehrrg
     1081 pwghsrrtsr srsgspgsss yehyesrkkk krrsasrprg recsptssle rlcrhkhqre
     1141 rsherpdrke svawprdrrk rrsrspsseh rarehrrprs rekwpqtrsh sperkgavre
     1201 aspaplaqge pgredlptrl palgeahvsp evatadkapl qappvlevaa ecepddldld
     1261 ygdsveaghv fddfssdavf iqlddmsspp spestdsspe rdfplkpalp paslavaaiq
     1321 revslmhded psqppplpeg tqephllrpd aaekaeapss pdvapagked spsasgrvqe
     1381 aarpeevvsq tpllrsralv krvtwnlqes essapaedra praplhrpqk pregawdmed
     1441 vaptgvrqvf selpfpshvl pepgfpdtdp sqvyspglpp apaqpssipp calvsqptvq
     1501 filqgslplv gcgaaqtlap vpaaltpase pasqataasn seektpaprl aaektkkeey
     1561 mkklhmqera veevklaikp fyqkrevtke eykdilrkav qkichsksge inpvkvanlv
     1621 kayvdkyrhm rrhkkpeage epptqgaeg
//
LOCUS       NP_065890                677 aa            linear   PRI 12-MAR-2023
DEFINITION  WD repeat-containing protein 48 isoform 1 [Homo sapiens].
ACCESSION   NP_065890
VERSION     NP_065890.1
DBSOURCE    REFSEQ: accession NM_020839.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 677)
  AUTHORS   Rennie ML, Arkinson C, Chaugule VK, Toth R and Walden H.
  TITLE     Structural basis of FANCD2 deubiquitination by USP1-UAF1
  JOURNAL   Nat Struct Mol Biol 28 (4), 356-364 (2021)
   PUBMED   33795880
  REMARK    GeneRIF: Structural basis of FANCD2 deubiquitination by USP1-UAF1.
REFERENCE   2  (residues 1 to 677)
  AUTHORS   Han D, Wang L, Chen B, Zhao W, Liang Y, Li Y, Zhang H, Liu Y, Wang
            X, Chen T, Li C, Song X, Luo D, Li Z and Yang Q.
  TITLE     USP1-WDR48 deubiquitinase complex enhances TGF-beta induced
            epithelial-mesenchymal transition of TNBC cells via stabilizing
            TAK1
  JOURNAL   Cell Cycle 20 (3), 320-331 (2021)
   PUBMED   33461373
  REMARK    GeneRIF: USP1-WDR48 deubiquitinase complex enhances TGF-beta
            induced epithelial-mesenchymal transition of TNBC cells via
            stabilizing TAK1.
REFERENCE   3  (residues 1 to 677)
  AUTHORS   Hodul M, Ganji R, Dahlberg CL, Raman M and Juo P.
  TITLE     The WD40-repeat protein WDR-48 promotes the stability of the
            deubiquitinating enzyme USP-46 by inhibiting its ubiquitination and
            degradation
  JOURNAL   J Biol Chem 295 (33), 11776-11788 (2020)
   PUBMED   32587090
REFERENCE   4  (residues 1 to 677)
  AUTHORS   Kim SJ, Wie M, Park SH, Kim TM, Park JH, Kim S, Myung K and Lee KY.
  TITLE     ATAD5 suppresses centrosome over-duplication by regulating UAF1 and
            ID1
  JOURNAL   Cell Cycle 19 (15), 1952-1968 (2020)
   PUBMED   32594826
  REMARK    GeneRIF: ATAD5 suppresses centrosome over-duplication by regulating
            UAF1 and ID1.
REFERENCE   5  (residues 1 to 677)
  AUTHORS   Liang F, Miller AS, Tang C, Maranon D, Williamson EA, Hromas R,
            Wiese C, Zhao W, Sung P and Kupfer GM.
  TITLE     The DNA-binding activity of USP1-associated factor 1 is required
            for efficient RAD51-mediated homologous DNA pairing and
            homology-directed DNA repair
  JOURNAL   J Biol Chem 295 (24), 8186-8194 (2020)
   PUBMED   32350107
  REMARK    GeneRIF: The DNA-binding activity of USP1-associated factor 1 is
            required for efficient RAD51-mediated homologous DNA pairing and
            homology-directed DNA repair.
REFERENCE   6  (residues 1 to 677)
  AUTHORS   Cote-Martin A, Moody C, Fradet-Turcotte A, D'Abramo CM, Lehoux M,
            Joubert S, Poirier GG, Coulombe B, Laimins LA and Archambault J.
  TITLE     Human papillomavirus E1 helicase interacts with the WD repeat
            protein p80 to promote maintenance of the viral genome in
            keratinocytes
  JOURNAL   J Virol 82 (3), 1271-1283 (2008)
   PUBMED   18032488
  REMARK    GeneRIF: These findings suggest that the interaction of human
            papillomavirus 11 and 31 E1 proteins with p80 is required for
            efficient maintenance of the viral episome in undifferentiated
            keratinocytes.
REFERENCE   7  (residues 1 to 677)
  AUTHORS   Cohn MA, Kowal P, Yang K, Haas W, Huang TT, Gygi SP and D'Andrea
            AD.
  TITLE     A UAF1-containing multisubunit protein complex regulates the
            Fanconi anemia pathway
  JOURNAL   Mol Cell 28 (5), 786-797 (2007)
   PUBMED   18082604
REFERENCE   8  (residues 1 to 677)
  AUTHORS   Park J, Cho NH, Choi JK, Feng P, Choe J and Jung JU.
  TITLE     Distinct roles of cellular Lck and p80 proteins in herpesvirus
            saimiri Tip function on lipid rafts
  JOURNAL   J Virol 77 (16), 9041-9051 (2003)
   PUBMED   12885920
REFERENCE   9  (residues 1 to 677)
  AUTHORS   Park J, Lee BS, Choi JK, Means RE, Choe J and Jung JU.
  TITLE     Herpesviral protein targets a cellular WD repeat endosomal protein
            to downregulate T lymphocyte receptor expression
  JOURNAL   Immunity 17 (2), 221-233 (2002)
   PUBMED   12196293
REFERENCE   10 (residues 1 to 677)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB040882.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene has been shown to
            interact with ubiquitin specific peptidase 1 (USP1), activating the
            deubiquitinating activity of USP1 and allowing it to remove the
            ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is
            ubiquitinated in response to DNA damage. [provided by RefSeq, Sep
            2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK025513.1, AB040882.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302313.10/ ENSP00000307491.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..677
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     Protein         1..677
                     /product="WD repeat-containing protein 48 isoform 1"
                     /note="WD repeat endosomal protein; WD repeat-containing
                     protein 48; USP1 associated factor 1; testicular tissue
                     protein Li 224"
                     /calculated_mol_wt=76080
     Region          28..67
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAF3.1)"
     Site            28
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q8BH57; propagated from
                     UniProtKB/Swiss-Prot (Q8TAF3.1)"
     Region          30..286
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Region          35..73
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Site            order(47,51,57..58,73..74,92,96,102..103,115..116,133,138,
                     144..145,167,184,189,195..196,208..209,227,231,237..238,
                     250..251,268,273,279..280)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          73..112
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAF3.1)"
     Region          79..115
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          115..154
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAF3.1)"
     Region          120..160
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          166..205
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAF3.1)"
     Region          172..207
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          208..247
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAF3.1)"
     Region          213..249
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Site            214
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q8TAF3.1)"
     Region          250..289
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAF3.1)"
     Region          255..290
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          292..334
                     /region_name="WD 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAF3.1)"
     Region          297..324
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          358..397
                     /region_name="WD 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAF3.1)"
     Region          363..389
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          509..673
                     /region_name="DUF3337"
                     /note="Domain of unknown function (DUF3337); pfam11816"
                     /db_xref="CDD:432097"
     Site            578
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8BH57; propagated from
                     UniProtKB/Swiss-Prot (Q8TAF3.1)"
     Region          607..628
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAF3.1)"
     Site            613
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8TAF3.1)"
     CDS             1..677
                     /gene="WDR48"
                     /gene_synonym="Bun62; P80; SPG60; UAF1"
                     /coded_by="NM_020839.4:11..2044"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS33738.1"
                     /db_xref="GeneID:57599"
                     /db_xref="HGNC:HGNC:30914"
                     /db_xref="MIM:612167"
ORIGIN      
        1 maahhrqnta grrkvqvsyv irdevekynr ngvnalqldp alnrlftagr dsiiriwsvn
       61 qhkqdpyias mehhtdwvnd ivlccngktl isassdttvk vwnahkgfcm stlrthkdyv
      121 kalayakdke lvasagldrq iflwdvntlt altasnntvt tsslsgnkds iyslamnqlg
      181 tiivsgstek vlrvwdprtc aklmklkght dnvkalllnr dgtqclsgss dgtirlwslg
      241 qqrciatyrv hdegvwalqv ndafthvysg grdrkiyctd lrnpdirvli ceekapvlkm
      301 eldrsadppp aiwvattkst vnkwtlkgih nfrasgdydn dctnpitplc tqpdqvikgg
      361 asiiqchiln dkrhiltkdt nnnvaywdvl kackvedlgk vdfedeikkr fkmvyvpnwf
      421 svdlktgmlt itldesdcfa awvsakdagf sspdgsdpkl nlgglllqal leywprthvn
      481 pmdeeenevn hvngeqenrv qkgngyfqvp phtpvifgea ggrtlfrllc rdsggetesm
      541 llnetvpqwv iditvdknmp kfnkipfylq phassgaktl kkdrlsasdm lqvrkvmehv
      601 yekiinldne sqttsssnne kpgeqekeed iavlaeekie llcqdqvldp nmdlrtvkhf
      661 iwksggdltl hyrqkst
//
LOCUS       NP_003551                806 aa            linear   PRI 14-MAR-2023
DEFINITION  85/88 kDa calcium-independent phospholipase A2 isoform a [Homo
            sapiens].
ACCESSION   NP_003551
VERSION     NP_003551.2
DBSOURCE    REFSEQ: accession NM_003560.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 806)
  AUTHORS   Borja N, Bivona S, Peart LS, Johnson B, Gonzalez J, Barbouth D,
            Moore H, Guo S, Bademci G and Tekin M.
  CONSRTM   Undiagnosed Disease Network
  TITLE     Genome sequencing reveals novel noncoding variants in PLA2G6 and
            LMNB1 causing progressive neurologic disease
  JOURNAL   Mol Genet Genomic Med 10 (4), e1892 (2022)
   PUBMED   35247231
  REMARK    GeneRIF: Genome sequencing reveals novel noncoding variants in
            PLA2G6 and LMNB1 causing progressive neurologic disease.
REFERENCE   2  (residues 1 to 806)
  AUTHORS   Rostampour D, Zolfaghari MR and Gholami M.
  TITLE     Novel insertion mutation in the PLA2G6 gene in an Iranian family
            with infantile neuroaxonal dystrophy
  JOURNAL   J Clin Lab Anal 36 (3), e24253 (2022)
   PUBMED   35092705
  REMARK    GeneRIF: Novel insertion mutation in the PLA2G6 gene in an Iranian
            family with infantile neuroaxonal dystrophy.
REFERENCE   3  (residues 1 to 806)
  AUTHORS   Magrinelli F, Mehta S, Di Lazzaro G, Latorre A, Edwards MJ, Balint
            B, Basu P, Kobylecki C, Groppa S, Hegde A, Mulroy E, Estevez-Fraga
            C, Arora A, Kumar H, Schneider SA, Lewis PA, Jaunmuktane Z, Revesz
            T, Gandhi S, Wood NW, Hardy JA, Tinazzi M, Lal V, Houlden H and
            Bhatia KP.
  TITLE     Dissecting the Phenotype and Genotype of PLA2G6-Related
            Parkinsonism
  JOURNAL   Mov Disord 37 (1), 148-161 (2022)
   PUBMED   34622992
  REMARK    GeneRIF: Dissecting the Phenotype and Genotype of PLA2G6-Related
            Parkinsonism.
REFERENCE   4  (residues 1 to 806)
  AUTHORS   Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S,
            Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S,
            Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC,
            Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B,
            Kramer P, Gitschier J, Maher ER and Hayflick SJ.
  TITLE     PLA2G6, encoding a phospholipase A2, is mutated in
            neurodegenerative disorders with high brain iron
  JOURNAL   Nat Genet 38 (7), 752-754 (2006)
   PUBMED   16783378
  REMARK    GeneRIF: mapped a locus for infantile neuroaxonal dystrophy (INAD)
            and neurodegeneration with brain iron accumulation (NBIA) to
            chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a
            group VI phospholipase A2, in NBIA, INAD and Karak syndrome
            Erratum:[Nat Genet. 2006 Aug;38(8):957]
REFERENCE   5  (residues 1 to 806)
  AUTHORS   Ma Z, Wang X, Nowatzke W, Ramanadham S and Turk J.
  TITLE     Human pancreatic islets express mRNA species encoding two distinct
            catalytically active isoforms of group VI phospholipase A2 (iPLA2)
            that arise from an exon-skipping mechanism of alternative splicing
            of the transcript from the iPLA2 gene on chromosome 22q13.1
  JOURNAL   J Biol Chem 274 (14), 9607-9616 (1999)
   PUBMED   10092647
REFERENCE   6  (residues 1 to 806)
  AUTHORS   Larsson PK, Claesson HE and Kennedy BP.
  TITLE     Multiple splice variants of the human calcium-independent
            phospholipase A2 and their effect on enzyme activity
  JOURNAL   J Biol Chem 273 (1), 207-214 (1998)
   PUBMED   9417066
REFERENCE   7  (residues 1 to 806)
  AUTHORS   Tang J, Kriz RW, Wolfman N, Shaffer M, Seehra J and Jones SS.
  TITLE     A novel cytosolic calcium-independent phospholipase A2 contains
            eight ankyrin motifs
  JOURNAL   J Biol Chem 272 (13), 8567-8575 (1997)
   PUBMED   9079687
REFERENCE   8  (residues 1 to 806)
  AUTHORS   Gregory,A. and Hayflick,S.
  TITLE     Neurodegeneration with Brain Iron Accumulation Disorders Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23447832
REFERENCE   9  (residues 1 to 806)
  AUTHORS   Gregory,A., Kurian,M.A., Maher,E.R., Hogarth,P. and Hayflick,S.J.
  TITLE     PLA2G6-Associated Neurodegeneration
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301718
REFERENCE   10 (residues 1 to 806)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC376896.1, AF064594.1,
            BC051904.1 and BC036742.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 22, 2004 this sequence version replaced NP_003551.1.
            
            Summary: The protein encoded by this gene is an A2 phospholipase, a
            class of enzyme that catalyzes the release of fatty acids from
            phospholipids. The encoded protein may play a role in phospholipid
            remodelling, arachidonic acid release, leukotriene and
            prostaglandin synthesis, fas-mediated apoptosis, and transmembrane
            ion flux in glucose-stimulated B-cells. Several transcript variants
            encoding multiple isoforms have been described, but the full-length
            nature of only three of them have been determined to date.
            [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Both variants 1 and
            4 encode the same protein (isoform a). Isoform a is membrane-bound
            while isoform b is found in the cytoplasm.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL080187.1, BC036742.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332509.8/ ENSP00000333142.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..806
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     Protein         1..806
                     /product="85/88 kDa calcium-independent phospholipase A2
                     isoform a"
                     /EC_number="3.1.1.5"
                     /EC_number="3.1.1.4"
                     /EC_number="3.1.2.2"
                     /note="85 kDa calcium-independent phospholipase A2; GVI
                     PLA2; iPLA2-beta; patatin-like phospholipase
                     domain-containing protein 9; palmitoyl-CoA hydrolase;
                     intracellular membrane-associated calcium-independent
                     phospholipase A2 beta; 85/88 kDa calcium-independent
                     phospholipase A2; neurodegeneration with brain iron
                     accumulation 2; phospholipase A2, group VI (cytosolic,
                     calcium-independent); 2-lysophosphatidylcholine
                     acylhydrolase"
                     /calculated_mol_wt=89772
     Region          103..174
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          118..149
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          120..147
                     /region_name="ANK 1.
                     /evidence=ECO:0000250|UniProtKB:A0A3L7I2I8"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     Site            order(151,153,157..158,161..163,165..166,170,173,183,185,
                     187,191..192,195..197,199..200,204,207,217,219,221,
                     225..226,229..231,233..234,238,241)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          151..183
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          151..181
                     /region_name="ANK 1. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     Region          156..249
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          185..217
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          185..215
                     /region_name="ANK 2. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     Region          219..248
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          219..248
                     /region_name="ANK 3. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     Region          220..>414
                     /region_name="PHA02875"
                     /note="ankyrin repeat protein; Provisional"
                     /db_xref="CDD:165206"
     Region          251..281
                     /region_name="ANK 4. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     Site            order(286,288,292..293,295,297..298,302,305,314,316,318,
                     322..323,326..328,330..331,335,338,347,349,351,355..356,
                     359..361,363..364,368,371,380)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          286..314
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          286..312
                     /region_name="ANK 5. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     Region          291..380
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          316..347
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          316..345
                     /region_name="ANK 6. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     Region          349..380
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          349..378
                     /region_name="ANK 7. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     Region          382..403
                     /region_name="ANK 9.
                     /evidence=ECO:0000250|UniProtKB:A0A3L7I2I8"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     Region          480..793
                     /region_name="Pat_PNPLA9"
                     /note="Patatin-like phospholipase domain containing
                     protein 9; cd07212"
                     /db_xref="CDD:132851"
     Site            480..500
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     Region          485..490
                     /region_name="GXGXXG.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01161"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     Site            order(486..487,489,519,652)
                     /site_type="active"
                     /db_xref="CDD:132851"
     Site            511..531
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     Region          517..521
                     /region_name="GXSXG.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01161"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     Site            517..521
                     /site_type="other"
                     /note="nucleophile elbow"
                     /db_xref="CDD:132851"
     Region          652..654
                     /region_name="DGA/G.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01161"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     Region          677..686
                     /region_name="Calmodulin-binding (1-9-14 motif).
                     /evidence=ECO:0000250|UniProtKB:A0A3L7I2I8"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     Region          748..759
                     /region_name="Calmodulin-binding (IQ motif).
                     /evidence=ECO:0000250|UniProtKB:A0A3L7I2I8"
                     /note="propagated from UniProtKB/Swiss-Prot (O60733.2)"
     CDS             1..806
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /coded_by="NM_003560.4:213..2633"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13967.1"
                     /db_xref="GeneID:8398"
                     /db_xref="HGNC:HGNC:9039"
                     /db_xref="MIM:603604"
ORIGIN      
        1 mqffgrlvnt fsgvtnlfsn pfrvkevava dytssdrvre egqlilfqnt pnrtwdcvlv
       61 nprnsqsgfr lfqleleada lvnfhqyssq llpfyesspq vlhtevlqhl tdlirnhpsw
      121 svahlavelg irecfhhsri iscancaene egctplhlac rkgdgeilve lvqychtqmd
      181 vtdykgetvf hyavqgdnsq vlqllgrnav aglnqvnnqg ltplhlacql gkqemvrvll
      241 lcnarcnimg pngypihsam kfsqkgcaem iismdssqih skdprygasp lhwaknaema
      301 rmllkrgcnv nstssagnta lhvavmrnrf dcaivllthg anadargehg ntplhlamsk
      361 dnvemikali vfgaevdtpn dfgetptfla skigrlvtrk ailtllrtvg aeycfppihg
      421 vpaeqgsaap hhpfsleraq pppislnnle lqdlmhisra rkpafilgsm rdekrthdhl
      481 lcldgggvkg liiiqlliai ekasgvatkd lfdwvagtst ggilalailh sksmaymrgm
      541 yfrmkdevfr gsrpyesgpl eeflkrefge htkmtdvrkp kvmltgtlsd rqpaelhlfr
      601 nydapetvre prfnqnvnlr ppaqpsdqlv wraarssgaa ptyfrpngrf ldggllannp
      661 tldamteihe ynqdlirkgq ankvkklsiv vslgtgrspq vpvtcvdvfr psnpwelakt
      721 vfgakelgkm vvdcctdpdg ravdrarawc emvgiqyfrl npqlgtdiml devsdtvlvn
      781 alwetevyiy ehreefqkli qlllsp
//
LOCUS       NP_001339352             399 aa            linear   PRI 15-MAR-2023
DEFINITION  alpha-1,2-mannosyltransferase ALG9 isoform l precursor [Homo
            sapiens].
ACCESSION   NP_001339352 XP_016873815
VERSION     NP_001339352.1
DBSOURCE    REFSEQ: accession NM_001352423.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 399)
  AUTHORS   Himmelreich N, Dimitrov B, Zielonka M, Hullen A, Hoffmann GF,
            Juenger H, Muller H, Lorenz I, Busse B, Marschall C, Schluter G and
            Thiel C.
  TITLE     Missense variant c.1460 T > C (p.L487P) enhances protein
            degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG
            patients presenting with West syndrome and review of the literature
  JOURNAL   Mol Genet Metab 136 (4), 274-281 (2022)
   PUBMED   35839600
  REMARK    GeneRIF: Missense variant c.1460 T > C (p.L487P) enhances protein
            degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG
            patients presenting with West syndrome and review of the
            literature.
            Review article
REFERENCE   2  (residues 1 to 399)
  AUTHORS   Yu Y, Kou D, Liu B, Huang Y, Li S, Qi Y, Guo Y, Huang T, Qi X and
            Jia L.
  TITLE     LncRNA MEG3 contributes to drug resistance in acute myeloid
            leukemia by positively regulating ALG9 through sponging miR-155
  JOURNAL   Int J Lab Hematol 42 (4), 464-472 (2020)
   PUBMED   32359033
  REMARK    GeneRIF: LncRNA MEG3 contributes to drug resistance in acute
            myeloid leukemia by positively regulating ALG9 through sponging
            miR-155.
REFERENCE   3  (residues 1 to 399)
  AUTHORS   Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel
            DN, Mane S, Torres VE, Somlo S and Mirshahi T.
  CONSRTM   Regeneron Genetics Center
  TITLE     ALG9 Mutation Carriers Develop Kidney and Liver Cysts
  JOURNAL   J Am Soc Nephrol 30 (11), 2091-2102 (2019)
   PUBMED   31395617
  REMARK    GeneRIF: ALG9 is a novel disease gene in the genetically
            heterogeneous autosomal dominant polycystic kidney disease (ADPKD)
            spectrum.
REFERENCE   4  (residues 1 to 399)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (residues 1 to 399)
  AUTHORS   Baysal BE, Willett-Brozick JE, Bacanu SA, Detera-Wadleigh S and
            Nimgaonkar VL.
  TITLE     Common variations in ALG9 are not associated with bipolar I
            disorder: a family-based study
  JOURNAL   Behav Brain Funct 2, 25 (2006)
   PUBMED   16859551
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 399)
  AUTHORS   Weinstein M, Schollen E, Matthijs G, Neupert C, Hennet T,
            Grubenmann CE, Frank CG, Aebi M, Clarke JT, Griffiths A, Seargeant
            L and Poplawski N.
  TITLE     CDG-IL: an infant with a novel mutation in the ALG9 gene and
            additional phenotypic features
  JOURNAL   Am J Med Genet A 136 (2), 194-197 (2005)
   PUBMED   15945070
REFERENCE   7  (residues 1 to 399)
  AUTHORS   Frank CG, Grubenmann CE, Eyaid W, Berger EG, Aebi M and Hennet T.
  TITLE     Identification and functional analysis of a defect in the human
            ALG9 gene: definition of congenital disorder of glycosylation type
            IL
  JOURNAL   Am J Hum Genet 75 (1), 146-150 (2004)
   PUBMED   15148656
REFERENCE   8  (residues 1 to 399)
  AUTHORS   Baysal BE, Willett-Brozick JE, Badner JA, Corona W, Ferrell RE,
            Nimgaonkar VL and Detera-Wadleigh SD.
  TITLE     A mannosyltransferase gene at 11q23 is disrupted by a translocation
            breakpoint that co-segregates with bipolar affective disorder in a
            small family
  JOURNAL   Neurogenetics 4 (1), 43-53 (2002)
   PUBMED   12030331
REFERENCE   9  (residues 1 to 399)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
REFERENCE   10 (residues 1 to 399)
  AUTHORS   Harris,P.C. and Torres,V.E.
  TITLE     Polycystic Kidney Disease, Autosomal Dominant
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301424
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from FP884232.2 and AP001781.5.
            On Jun 13, 2017 this sequence version replaced XP_016873815.1.
            
            Summary: This gene encodes an alpha-1,2-mannosyltransferase enzyme
            that functions in lipid-linked oligosaccharide assembly. Mutations
            in this gene result in congenital disorder of glycosylation type
            Il. Multiple transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Dec 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.12662.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.1"
     Protein         1..399
                     /product="alpha-1,2-mannosyltransferase ALG9 isoform l
                     precursor"
                     /EC_number="2.4.1.259"
                     /EC_number="2.4.1.261"
                     /note="asparagine-linked glycosylation 9 homolog (yeast,
                     alpha- 1,2-mannosyltransferase); disrupted in bipolar
                     affective disorder 1; asparagine-linked glycosylation 9
                     homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase);
                     alpha-1,2-mannosyltransferase ALG9; loss of
                     heterozygosity, 11, chromosomal region 1 gene J product;
                     disrupted in bipolar disorder protein 1; asparagine-linked
                     glycosylation protein 9 homolog;
                     dol-P-Man:Man(6)GlcNAc(2)-PP-Dol
                     alpha-1,2-mannosyltransferase;
                     dol-P-Man:Man(8)GlcNAc(2)-PP-Dol
                     alpha-1,2-mannosyltransferase; asparagine-linked
                     glycosylation 9, alpha-1,2-mannosyltransferase homolog;
                     dol-P-Man dependent alpha-1,2-mannosyltransferase;
                     dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol
                     alpha-1,2-mannosyltransferase;
                     dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol
                     alpha-1,2-mannosyltransferase; asparagine-linked
                     glycosylation 9 alpha-12-mannosyltransferase-like protein"
                     /calculated_mol_wt=44123
     Region          <1..270
                     /region_name="PMT_2"
                     /note="Dolichyl-phosphate-mannose-protein
                     mannosyltransferase; cl21590"
                     /db_xref="CDD:451323"
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1896
     CDS             1..399
                     /gene="ALG9"
                     /gene_synonym="CDG1L; DIBD1; GIKANIS; LOH11CR1J"
                     /coded_by="NM_001352423.2:914..2113"
                     /note="isoform l precursor is encoded by transcript
                     variant 19"
                     /db_xref="GeneID:79796"
                     /db_xref="HGNC:HGNC:15672"
                     /db_xref="MIM:606941"
ORIGIN      
        1 mmlaflvlst gmfcsssafl pssfcmyttl iamtgwymdk tsiavlgvaa gailgwpfsa
       61 alglpiafdl lvmkhrwksf fhwslmalil flvpvvvids yyygklviap lnivlynvft
      121 phgpdlyvqn lghpywltla pmyiwfiiff iqphkeerfl fpvypliclc gavalsalqk
      181 cyhfvfqryr lehytvtsnw lalgtvflfg llsfsrsval frgyhgpldl ypefyriatd
      241 ptihtvpegr pvnvcvgkew yrfpssfllp dnwqlqfips efrgqlpkpf aegplatriv
      301 ptdmndqnle epsryidisk chylvdldtm retprepkys snkeewisla yrpfldasrs
      361 skllrafyvp flsdqytvyv nytilkprka kqirkksgg
//
LOCUS       NP_006168                237 aa            linear   PRI 15-MAR-2023
DEFINITION  neural retina-specific leucine zipper protein isoform 1 [Homo
            sapiens].
ACCESSION   NP_006168 XP_005267765
VERSION     NP_006168.1
DBSOURCE    REFSEQ: accession NM_006177.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 237)
  AUTHORS   El-Asrag ME, Corton M, McKibbin M, Avila-Fernandez A, Mohamed MD,
            Blanco-Kelly F, Toomes C, Inglehearn CF, Ayuso C and Ali M.
  TITLE     Novel homozygous mutations in the transcription factor NRL cause
            non-syndromic retinitis pigmentosa
  JOURNAL   Mol Vis 28, 48-56 (2022)
   PUBMED   35693422
  REMARK    GeneRIF: Novel homozygous mutations in the transcription factor NRL
            cause non-syndromic retinitis pigmentosa.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 237)
  AUTHORS   Cuevas E, Holder DL, Alshehri AH, Treguier J, Lakowski J and Sowden
            JC.
  TITLE     NRL-/- gene edited human embryonic stem cells generate
            rod-deficient retinal organoids enriched in S-cone-like
            photoreceptors
  JOURNAL   Stem Cells 39 (4), 414-428 (2021)
   PUBMED   33400844
  REMARK    GeneRIF: NRL(-/-) gene edited human embryonic stem cells generate
            rod-deficient retinal organoids enriched in S-cone-like
            photoreceptors.
REFERENCE   3  (residues 1 to 237)
  AUTHORS   Kallman A, Capowski EE, Wang J, Kaushik AM, Jansen AD, Edwards KL,
            Chen L, Berlinicke CA, Joseph Phillips M, Pierce EA, Qian J, Wang
            TH, Gamm DM and Zack DJ.
  TITLE     Investigating cone photoreceptor development using patient-derived
            NRL null retinal organoids
  JOURNAL   Commun Biol 3 (1), 82 (2020)
   PUBMED   32081919
  REMARK    GeneRIF: Investigating cone photoreceptor development using
            patient-derived NRL null retinal organoids.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 237)
  AUTHORS   Swaroop A, Kim D and Forrest D.
  TITLE     Transcriptional regulation of photoreceptor development and
            homeostasis in the mammalian retina
  JOURNAL   Nat Rev Neurosci 11 (8), 563-576 (2010)
   PUBMED   20648062
  REMARK    Review article
REFERENCE   5  (residues 1 to 237)
  AUTHORS   Farjo Q, Jackson A, Pieke-Dahl S, Scott K, Kimberling WJ, Sieving
            PA, Richards JE and Swaroop A.
  TITLE     Human bZIP transcription factor gene NRL: structure, genomic
            sequence, and fine linkage mapping at 14q11.2 and negative mutation
            analysis in patients with retinal degeneration
  JOURNAL   Genomics 45 (2), 395-401 (1997)
   PUBMED   9344665
REFERENCE   6  (residues 1 to 237)
  AUTHORS   Kumar R, Chen S, Scheurer D, Wang QL, Duh E, Sung CH, Rehemtulla A,
            Swaroop A, Adler R and Zack DJ.
  TITLE     The bZIP transcription factor Nrl stimulates rhodopsin promoter
            activity in primary retinal cell cultures
  JOURNAL   J Biol Chem 271 (47), 29612-29618 (1996)
   PUBMED   8939891
REFERENCE   7  (residues 1 to 237)
  AUTHORS   Rehemtulla A, Warwar R, Kumar R, Ji X, Zack DJ and Swaroop A.
  TITLE     The basic motif-leucine zipper transcription factor Nrl can
            positively regulate rhodopsin gene expression
  JOURNAL   Proc Natl Acad Sci U S A 93 (1), 191-195 (1996)
   PUBMED   8552602
REFERENCE   8  (residues 1 to 237)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   9  (residues 1 to 237)
  AUTHORS   Yang-Feng TL and Swaroop A.
  TITLE     Neural retina-specific leucine zipper gene NRL (D14S46E) maps to
            human chromosome 14q11.1-q11.2
  JOURNAL   Genomics 14 (2), 491-492 (1992)
   PUBMED   1427865
REFERENCE   10 (residues 1 to 237)
  AUTHORS   Swaroop A, Xu JZ, Pawar H, Jackson A, Skolnick C and Agarwal N.
  TITLE     A conserved retina-specific gene encodes a basic motif/leucine
            zipper domain
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 266-270 (1992)
   PUBMED   1729696
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136295.3 and BC012395.1.
            On Aug 24, 2017 this sequence version replaced XP_005267765.1.
            
            Summary: This gene encodes a basic motif-leucine zipper
            transcription factor of the Maf subfamily. The encoded protein is
            conserved among vertebrates and is a critical intrinsic regulator
            of photoceptor development and function. Mutations in this gene
            have been associated with retinitis pigmentosa and retinal
            degenerative diseases. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.8764.1,
                                           DRR138516.306631.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..237
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2-q12"
     Protein         1..237
                     /product="neural retina-specific leucine zipper protein
                     isoform 1"
                     /note="neural retinal-specific leucine zipper"
                     /calculated_mol_wt=25809
     Region          23..57
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P54845.1)"
     Region          30..93
                     /region_name="Minimal transactivation domain (MTD).
                     /evidence=ECO:0000269|PubMed:15328344"
                     /note="propagated from UniProtKB/Swiss-Prot (P54845.1)"
     Region          67..101
                     /region_name="Maf_N"
                     /note="Maf N-terminal region; pfam08383"
                     /db_xref="CDD:429961"
     Region          154..223
                     /region_name="bZIP_Maf_large"
                     /note="Basic leucine zipper (bZIP) domain of large
                     musculoaponeurotic fibrosarcoma (Maf) proteins: a
                     DNA-binding and dimerization domain; cd14718"
                     /db_xref="CDD:269866"
     Region          154..223
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:269866"
     Region          159..185
                     /region_name="Basic motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00978"
                     /note="propagated from UniProtKB/Swiss-Prot (P54845.1)"
     Site            order(161,164..166,168..170,172..174,176..177,179..180)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:269866"
     Site            order(180,187,190..191,194..195,197..198,201..202,
                     204..205,208,211..212,215..216,218..219)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:269866"
     Region          187..208
                     /region_name="Leucine-zipper.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00978"
                     /note="propagated from UniProtKB/Swiss-Prot (P54845.1)"
     CDS             1..237
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
                     /coded_by="NM_006177.5:482..1195"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9608.1"
                     /db_xref="GeneID:4901"
                     /db_xref="HGNC:HGNC:8002"
                     /db_xref="MIM:162080"
ORIGIN      
        1 malppsplam eyvndfdlmk fevkrepseg rpgpptaslg stpyssvpps ptfsepgmvg
       61 ategtrpgle elywlatlqq qlgagealgl speeamellq gqgpvpvdgp hgyypgspee
      121 tgaqhvqlae rfsdaalvsm svrelnrqlr gcgrdealrl kqrrrtlknr gyaqacrskr
      181 lqqrrgleae rarlaaqlda lraevarlar erdlykarcd rltssgpgsg dpshlfl
//
LOCUS       NP_001073591             253 aa            linear   PRI 15-MAR-2023
DEFINITION  major prion protein preproprotein Prp precursor [Homo sapiens].
ACCESSION   NP_001073591
VERSION     NP_001073591.1
DBSOURCE    REFSEQ: accession NM_001080122.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 253)
  AUTHORS   Rudenskaya GE, Konovalov FA, Illarioshkin SN and Shchagina OA.
  TITLE     [Gerstmann-Straussler disease: a familial case with common PRNP
            mutation and atypical features]
  JOURNAL   Zh Nevrol Psikhiatr Im S S Korsakova 123 (2), 138-143 (2023)
   PUBMED   36843471
  REMARK    GeneRIF: [Gerstmann-Straussler disease: a familial case with common
            PRNP mutation and atypical features].
REFERENCE   2  (residues 1 to 253)
  AUTHORS   Matsubayashi T and Sanjo N.
  TITLE     Systematic Review of Clinical and Pathophysiological Features of
            Genetic Creutzfeldt-Jakob Disease Caused by a Val-to-Ile Mutation
            at Codon 180 in the Prion Protein Gene
  JOURNAL   Int J Mol Sci 23 (23), 15172 (2022)
   PUBMED   36499498
  REMARK    GeneRIF: Systematic Review of Clinical and Pathophysiological
            Features of Genetic Creutzfeldt-Jakob Disease Caused by a
            Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 253)
  AUTHORS   Hu K, Zhang X, Zhou L and Li J.
  TITLE     Downregulated PRNP Facilitates Cell Proliferation and Invasion and
            Has Effect on the Immune Regulation in Ovarian Cancer
  JOURNAL   J Immunol Res 2022, 3205040 (2022)
   PUBMED   36213323
  REMARK    GeneRIF: Downregulated PRNP Facilitates Cell Proliferation and
            Invasion and Has Effect on the Immune Regulation in Ovarian Cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 253)
  AUTHORS   Vanderperre B, Staskevicius AB, Tremblay G, McCoy M, O'Neill MA,
            Cashman NR and Roucou X.
  TITLE     An overlapping reading frame in the PRNP gene encodes a novel
            polypeptide distinct from the prion protein
  JOURNAL   FASEB J 25 (7), 2373-2386 (2011)
   PUBMED   21478263
  REMARK    GeneRIF: Results demonstrate an unexpected function for PRNP,
            which, in addition to plasma membrane-anchored PrP, also encodes a
            second polypeptide termed AltPrP.
REFERENCE   5  (residues 1 to 253)
  AUTHORS   Li B, Qing L, Yan J and Kong Q.
  TITLE     Instability of the octarepeat region of the human prion protein
            gene
  JOURNAL   PLoS One 6 (10), e26635 (2011)
   PUBMED   22028931
  REMARK    GeneRIF: instability of the octarepeat region of the human prion
            protein gene
REFERENCE   6  (residues 1 to 253)
  AUTHORS   Zerr,I. and Schmitz,M.
  TITLE     Genetic Prion Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301407
REFERENCE   7  (residues 1 to 253)
  AUTHORS   Muller WE, Pfeifer K, Forrest J, Rytik PG, Eremin VF, Popov SA and
            Schroder HC.
  TITLE     Accumulation of transcripts coding for prion protein in human
            astrocytes during infection with human immunodeficiency virus
  JOURNAL   Biochim Biophys Acta 1139 (1-2), 32-40 (1992)
   PUBMED   1351748
REFERENCE   8  (residues 1 to 253)
  AUTHORS   Medori R, Montagna P, Tritschler HJ, LeBlanc A, Cortelli P, Tinuper
            P, Lugaresi E and Gambetti P.
  TITLE     Fatal familial insomnia: a second kindred with mutation of prion
            protein gene at codon 178
  JOURNAL   Neurology 42 (3 Pt 1), 669-670 (1992)
   PUBMED   1347910
REFERENCE   9  (residues 1 to 253)
  AUTHORS   Medori R, Tritschler HJ, LeBlanc A, Villare F, Manetto V, Chen HY,
            Xue R, Leal S, Montagna P, Cortelli P et al.
  TITLE     Fatal familial insomnia, a prion disease with a mutation at codon
            178 of the prion protein gene
  JOURNAL   N Engl J Med 326 (7), 444-449 (1992)
   PUBMED   1346338
REFERENCE   10 (residues 1 to 253)
  AUTHORS   Goldfarb LG, Brown P, McCombie WR, Goldgaber D, Swergold GD, Wills
            PR, Cervenakova L, Baron H, Gibbs CJ Jr and Gajdusek DC.
  TITLE     Transmissible familial Creutzfeldt-Jakob disease associated with
            five, seven, and eight extra octapeptide coding repeats in the PRNP
            gene
  JOURNAL   Proc Natl Acad Sci U S A 88 (23), 10926-10930 (1991)
   PUBMED   1683708
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI669189.1, M13899.1 and
            AI131269.1.
            
            Summary: The protein encoded by this gene is a membrane
            glycosylphosphatidylinositol-anchored glycoprotein that tends to
            aggregate into rod-like structures. The encoded protein contains a
            highly unstable region of five tandem octapeptide repeats. This
            gene is found on chromosome 20, approximately 20 kbp upstream of a
            gene which encodes a biochemically and structurally similar protein
            to the one encoded by this gene. Mutations in the repeat region as
            well as elsewhere in this gene have been associated with
            Creutzfeldt-Jakob disease, fatal familial insomnia,
            Gerstmann-Straussler disease, Huntington disease-like 1, and kuru.
            An overlapping open reading frame has been found for this gene that
            encodes a smaller, structurally unrelated protein, AltPrp.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Nov 2014].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. Variants 1-5 can all encode the same protein (Prp).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.145918.1,
                                           SRR1803611.132136.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..253
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     Protein         1..253
                     /product="major prion protein preproprotein Prp precursor"
                     /note="prion-related protein; alternative prion protein;
                     major prion protein; CD230 antigen"
                     /calculated_mol_wt=25235
     Region          1..28
                     /region_name="Prion_bPrPp"
                     /note="Major prion protein bPrPp - N terminal; pfam11587"
                     /db_xref="CDD:371614"
     sig_peptide     1..22
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2444
     Region          23..240
                     /region_name="PRP"
                     /note="Major prion protein; smart00157"
                     /db_xref="CDD:197548"
     mat_peptide     23..230
                     /product="Major prion protein. /id=PRO_0000025675"
                     /note="propagated from UniProtKB/Swiss-Prot (P04156.1)"
                     /calculated_mol_wt=22747
     Region          23..230
                     /region_name="Interaction with GRB2, ERI3 and SYN1.
                     /evidence=ECO:0000250|UniProtKB:P04925"
                     /note="propagated from UniProtKB/Swiss-Prot (P04156.1)"
     Region          23..38
                     /region_name="Interaction with ADGRG6.
                     /evidence=ECO:0000250|UniProtKB:P04925"
                     /note="propagated from UniProtKB/Swiss-Prot (P04156.1)"
     Region          26..108
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P04156.1)"
     Region          51..91
                     /region_name="5 X 8 AA tandem repeats of P-H-G-G-G-W-G-Q"
                     /note="propagated from UniProtKB/Swiss-Prot (P04156.1)"
     Region          51..59
                     /experiment="COORDINATES:manual assertion
                     [ECO:0000218][PMID:1683708]"
                     /note="peptide; nonapeptide PQGGGGWGQ encoded by the R1
                     nucleotide motif"
     Region          60..67
                     /experiment="COORDINATES:manual assertion
                     [ECO:0000218][PMID:1683708]"
                     /note="peptide; octapeptide PHGGGWGQ encoded by the R2
                     nucleotide motif"
     Region          68..75
                     /experiment="COORDINATES:manual assertion
                     [ECO:0000218][PMID:1683708]"
                     /note="peptide; octapeptide PHGGGWGQ encoded by the R2
                     nucleotide motif"
     Region          76..83
                     /experiment="COORDINATES:manual assertion
                     [ECO:0000218][PMID:1683708]"
                     /note="peptide; octapeptide PHGGGWGQ encoded by the R3
                     nucleotide motif"
     Region          84..91
                     /experiment="COORDINATES:manual assertion
                     [ECO:0000218][PMID:1683708]"
                     /note="peptide; octapeptide PHGGGWGQ encoded by the R4
                     nucleotide motif"
     Site            181
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12214108; propagated from
                     UniProtKB/Swiss-Prot (P04156.1)"
     Site            197
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P04156.1)"
     CDS             1..253
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU;
                     p27-30; PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /coded_by="NM_001080122.3:59..820"
                     /note="preproprotein Prp precursor is encoded by
                     transcript variant 4"
                     /db_xref="CCDS:CCDS13080.1"
                     /db_xref="GeneID:5621"
                     /db_xref="HGNC:HGNC:9449"
                     /db_xref="MIM:176640"
ORIGIN      
        1 manlgcwmlv lfvatwsdlg lckkrpkpgg wntggsrypg qgspggnryp pqggggwgqp
       61 hgggwgqphg ggwgqphggg wgqphgggwg qgggthsqwn kpskpktnmk hmagaaaaga
      121 vvgglggyml gsamsrpiih fgsdyedryy renmhrypnq vyyrpmdeys nqnnfvhdcv
      181 nitikqhtvt tttkgenfte tdvkmmervv eqmcitqyer esqayyqrgs smvlfssppv
      241 illisflifl ivg
//
LOCUS       NP_001275667             851 aa            linear   PRI 15-MAR-2023
DEFINITION  dynamin-1 isoform 3 [Homo sapiens].
ACCESSION   NP_001275667
VERSION     NP_001275667.1
DBSOURCE    REFSEQ: accession NM_001288738.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 851)
  AUTHORS   Parthasarathy S, Ruggiero SM, Gelot A, Soardi FC, Ribeiro BFR,
            Pires DEV, Ascher DB, Schmitt A, Rambaud C, Represa A, Xie HM, Lusk
            L, Wilmarth O, McDonnell PP, Juarez OA, Grace AN, Buratti J, Mignot
            C, Gras D, Nava C, Pierce SR, Keren B, Kennedy BC, Pena SDJ, Helbig
            I and Cuddapah VA.
  TITLE     A recurrent de novo splice site variant involving DNM1 exon 10a
            causes developmental and epileptic encephalopathy through a
            dominant-negative mechanism
  JOURNAL   Am J Hum Genet 109 (12), 2253-2269 (2022)
   PUBMED   36413998
  REMARK    GeneRIF: A recurrent de novo splice site variant involving DNM1
            exon 10a causes developmental and epileptic encephalopathy through
            a dominant-negative mechanism.
REFERENCE   2  (residues 1 to 851)
  AUTHORS   Yigit G, Sheffer R, Daana M, Li Y, Kaygusuz E, Mor-Shakad H,
            Altmuller J, Nurnberg P, Douiev L, Kaulfuss S, Burfeind P, Wollnik
            B and Brockmann K.
  TITLE     Loss-of-function variants in DNM1 cause a specific form of
            developmental and epileptic encephalopathy only in biallelic state
  JOURNAL   J Med Genet 59 (6), 549-553 (2022)
   PUBMED   34172529
  REMARK    GeneRIF: Loss-of-function variants in DNM1 cause a specific form of
            developmental and epileptic encephalopathy only in biallelic state.
REFERENCE   3  (residues 1 to 851)
  AUTHORS   Sun EW, Matusica D, Wattchow DA, McCluskey A, Robinson PJ and
            Keating DJ.
  TITLE     Dynamin regulates L cell secretion in human gut
  JOURNAL   Mol Cell Endocrinol 535, 111398 (2021)
   PUBMED   34274446
  REMARK    GeneRIF: Dynamin regulates L cell secretion in human gut.
REFERENCE   4  (residues 1 to 851)
  AUTHORS   Liu J, Alvarez FJD, Clare DK, Noel JK and Zhang P.
  TITLE     CryoEM structure of the super-constricted two-start dynamin 1
            filament
  JOURNAL   Nat Commun 12 (1), 5393 (2021)
   PUBMED   34518553
  REMARK    GeneRIF: CryoEM structure of the super-constricted two-start
            dynamin 1 filament.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 851)
  AUTHORS   Kennedy SA, Jarboui MA, Srihari S, Raso C, Bryan K, Dernayka L,
            Charitou T, Bernal-Llinares M, Herrera-Montavez C, Krstic A,
            Matallanas D, Kotlyar M, Jurisica I, Curak J, Wong V, Stagljar I,
            LeBihan T, Imrie L, Pillai P, Lynn MA, Fasterius E, Al-Khalili
            Szigyarto C, Breen J, Kiel C, Serrano L, Rauch N, Rukhlenko O,
            Kholodenko BN, Iglesias-Martinez LF, Ryan CJ, Pilkington R,
            Cammareri P, Sansom O, Shave S, Auer M, Horn N, Klose F, Ueffing M,
            Boldt K, Lynn DJ and Kolch W.
  TITLE     Extensive rewiring of the EGFR network in colorectal cancer cells
            expressing transforming levels of KRASG13D
  JOURNAL   Nat Commun 11 (1), 499 (2020)
   PUBMED   31980649
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 851)
  AUTHORS   Timm D, Salim K, Gout I, Guruprasad L, Waterfield M and Blundell T.
  TITLE     Crystal structure of the pleckstrin homology domain from dynamin
  JOURNAL   Nat Struct Biol 1 (11), 782-788 (1994)
   PUBMED   7634088
REFERENCE   7  (residues 1 to 851)
  AUTHORS   Ferguson KM, Lemmon MA, Schlessinger J and Sigler PB.
  TITLE     Crystal structure at 2.2 A resolution of the pleckstrin homology
            domain from human dynamin
  JOURNAL   Cell 79 (2), 199-209 (1994)
   PUBMED   7954789
REFERENCE   8  (residues 1 to 851)
  AUTHORS   Downing AK, Driscoll PC, Gout I, Salim K, Zvelebil MJ and
            Waterfield MD.
  TITLE     Three-dimensional solution structure of the pleckstrin homology
            domain from dynamin
  JOURNAL   Curr Biol 4 (10), 884-891 (1994)
   PUBMED   7850421
REFERENCE   9  (residues 1 to 851)
  AUTHORS   van der Bliek AM, Redelmeier TE, Damke H, Tisdale EJ, Meyerowitz EM
            and Schmid SL.
  TITLE     Mutations in human dynamin block an intermediate stage in coated
            vesicle formation
  JOURNAL   J Cell Biol 122 (3), 553-563 (1993)
   PUBMED   8101525
REFERENCE   10 (residues 1 to 851)
  AUTHORS   Obar RA, Collins CA, Hammarback JA, Shpetner HS and Vallee RB.
  TITLE     Molecular cloning of the microtubule-associated mechanochemical
            enzyme dynamin reveals homology with a new family of GTP-binding
            proteins
  JOURNAL   Nature 347 (6290), 256-261 (1990)
   PUBMED   2144893
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK316235.1, BC050279.1,
            BG396820.1, AL590708.18 and AI660320.1.
            
            Summary: This gene encodes a member of the dynamin subfamily of
            GTP-binding proteins. The encoded protein possesses unique
            mechanochemical properties used to tubulate and sever membranes,
            and is involved in clathrin-mediated endocytosis and other
            vesicular trafficking processes. Actin and other cytoskeletal
            proteins act as binding partners for the encoded protein, which can
            also self-assemble leading to stimulation of GTPase activity. More
            than sixty highly conserved copies of the 3' region of this gene
            are found elsewhere in the genome, particularly on chromosomes Y
            and 15. Alternatively spliced transcript variants encoding
            different isoforms have been described. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (4) lacks an internal alternate
            in-frame exon, and contains an alternate in-frame exon, and
            includes an alternate exon in the 3' coding region that results in
            a frameshift and an early stop codon, compared to variant 1. The
            resulting protein (isoform 3) is shorter and has a distinct
            C-terminus, compared to isoform 1. Variants 3 and 4 encode the same
            protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK316235.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..851
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     Protein         1..851
                     /product="dynamin-1 isoform 3"
                     /EC_number="3.6.5.5"
                     /calculated_mol_wt=95765
     Region          6..245
                     /region_name="DYNc"
                     /note="Dynamin, GTPase; smart00053"
                     /db_xref="CDD:197491"
     Region          38..45
                     /region_name="G1 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05193.2)"
     Region          64..66
                     /region_name="G2 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05193.2)"
     Site            80
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P39053; propagated from
                     UniProtKB/Swiss-Prot (Q05193.2)"
     Site            125
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P39053; propagated from
                     UniProtKB/Swiss-Prot (Q05193.2)"
     Region          136..139
                     /region_name="G3 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05193.2)"
     Region          205..208
                     /region_name="G4 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05193.2)"
     Region          215..502
                     /region_name="Dynamin_M"
                     /note="Dynamin central region; pfam01031"
                     /db_xref="CDD:426002"
     Region          235..238
                     /region_name="G5 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05193.2)"
     Site            306
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P39053; propagated from
                     UniProtKB/Swiss-Prot (Q05193.2)"
     Site            347
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P21575; propagated from
                     UniProtKB/Swiss-Prot (Q05193.2)"
     Site            354
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P39053; propagated from
                     UniProtKB/Swiss-Prot (Q05193.2)"
     Site            512
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P39053; propagated from
                     UniProtKB/Swiss-Prot (Q05193.2)"
     Region          520..629
                     /region_name="PH_dynamin"
                     /note="Dynamin pleckstrin homology (PH) domain; cd01256"
                     /db_xref="CDD:269958"
     Site            order(520,522..523,525,542,611..612,615,618..619,622)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:269958"
     Region          655..745
                     /region_name="GED"
                     /note="Dynamin GTPase effector domain; pfam02212"
                     /db_xref="CDD:426663"
     Region          <752..844
                     /region_name="PHA03378"
                     /note="EBNA-3B; Provisional"
                     /db_xref="CDD:223065"
     Site            774
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P21575; propagated from
                     UniProtKB/Swiss-Prot (Q05193.2)"
     Site            778
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P21575; propagated from
                     UniProtKB/Swiss-Prot (Q05193.2)"
     Site            796
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P39053; propagated from
                     UniProtKB/Swiss-Prot (Q05193.2)"
     Site            822
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P21575; propagated from
                     UniProtKB/Swiss-Prot (Q05193.2)"
     CDS             1..851
                     /gene="DNM1"
                     /gene_synonym="DEE31; DNM; EIEE31"
                     /coded_by="NM_001288738.2:93..2648"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS75911.1"
                     /db_xref="GeneID:1759"
                     /db_xref="HGNC:HGNC:2972"
                     /db_xref="MIM:602377"
ORIGIN      
        1 mgnrgmedli plvnrlqdaf saigqnadld lpqiavvggq sagkssvlen fvgrdflprg
       61 sgivtrrplv lqlvnattey aeflhckgkk ftdfeevrle ieaetdrvtg tnkgispvpi
      121 nlrvysphvl nltlvdlpgm tkvpvgdqpp diefqirdml mqfvtkencl ilavspansd
      181 lansdalkva kevdpqgqrt igvitkldlm degtdardvl enkllplrrg yigvvnrsqk
      241 didgkkdita alaaerkffl shpsyrhlad rmgtpylqkv lnqqltnhir dtlpglrnkl
      301 qsqllsieke veeyknfrpd dparktkall qmvqqfavdf ekriegsgdq idtyelsgga
      361 rinrifherf pfelvkmefd ekelrreisy aiknihgirt glftpdlafe atvkkqvqkl
      421 kepsikcvdm vvseltatir kcseklqqyp rlreemeriv tthireregr tkeqvmllid
      481 ielaymntnh edfigfanaq qrsnqmnkkk tsgnqdeilv irkgwltinn igimkggske
      541 ywfvltaenl swykddeeke kkymlsvdnl klrdvekgfm sskhifalfn teqrnvykdy
      601 rqlelacetq eevdswkasf lragvyperv gdkekasete engsdsfmhs mdpqlerqve
      661 tirnlvdsym aivnktvrdl mpktimhlmi nntkefifse llanlyscgd qntlmeesae
      721 qaqrrdemlr myhalkeals iigdintttv stpmpppvdd swlqvqsvpa grrsptsspt
      781 pqrrapavpp arpgsrgpap gpppagsalg gappvpsrpg aspdpfgppp qvpsrpnrap
      841 pgvpritisd p
//
LOCUS       NP_001338121             370 aa            linear   PRI 15-MAR-2023
DEFINITION  cytosolic purine 5'-nucleotidase isoform 5 [Homo sapiens].
ACCESSION   NP_001338121 XP_005269699
VERSION     NP_001338121.1
DBSOURCE    REFSEQ: accession NM_001351192.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 370)
  AUTHORS   Zhang W, Wang YD, Xing YJ, Liu PJ and Yang JH.
  TITLE     Silencing of circ-NT5C2 retards the progression of IL-1beta-induced
            osteoarthritis in an in vitro cell model by targeting the
            miR-142-5p/NAMPT axis
  JOURNAL   Microbiol Immunol 67 (3), 129-141 (2023)
   PUBMED   36540014
  REMARK    GeneRIF: Silencing of circ-NT5C2 retards the progression of
            IL-1beta-induced osteoarthritis in an in vitro cell model by
            targeting the miR-142-5p/NAMPT axis.
REFERENCE   2  (residues 1 to 370)
  AUTHORS   Fei X, Wu X, Dou YN, Sun K, Guo Q, Zhang L, Li S, Wei J, Huan Y, He
            X and Fei Z.
  TITLE     TRIM22 orchestrates the proliferation of GBMs and the benefits of
            TMZ by coordinating the modification and degradation of RIG-I
  JOURNAL   Mol Ther Oncolytics 26, 413-428 (2022)
   PUBMED   36159777
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 370)
  AUTHORS   Mei H, Yin B, Yang W, Zhang J, Lu H, Qi X, Mei W, Zhang H and Zhang
            J.
  TITLE     Associations between Gene-Gene Interaction and Overweight/Obesity
            of 12-Month-Old Chinese Infants
  JOURNAL   Biomed Res Int 2022, 1499454 (2022)
   PUBMED   35295960
  REMARK    GeneRIF: Associations between Gene-Gene Interaction and
            Overweight/Obesity of 12-Month-Old Chinese Infants.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 370)
  AUTHORS   Somazu S, Tanaka Y, Tamai M, Watanabe A, Kagami K, Abe M, Harama D,
            Shinohara T, Akahane K, Goi K, Sugita K, Moriyama T, Yang J, Goto
            H, Minegishi M, Iwamoto S, Takita J and Inukai T.
  TITLE     NUDT15 polymorphism and NT5C2 and PRPS1 mutations influence
            thiopurine sensitivity in acute lymphoblastic leukaemia cells
  JOURNAL   J Cell Mol Med 25 (22), 10521-10533 (2021)
   PUBMED   34636169
  REMARK    GeneRIF: NUDT15 polymorphism and NT5C2 and PRPS1 mutations
            influence thiopurine sensitivity in acute lymphoblastic leukaemia
            cells.
REFERENCE   5  (residues 1 to 370)
  AUTHORS   Wallden K, Stenmark P, Nyman T, Flodin S, Graslund S, Loppnau P,
            Bianchi V and Nordlund P.
  TITLE     Crystal structure of human cytosolic 5'-nucleotidase II: insights
            into allosteric regulation and substrate recognition
  JOURNAL   J Biol Chem 282 (24), 17828-17836 (2007)
   PUBMED   17405878
  REMARK    GeneRIF: Data describe the crystal structure of human cytosolic
            5'-nucleotidase II and discuss its allosteric regulation and
            substrate recognition.
REFERENCE   6  (residues 1 to 370)
  AUTHORS   Oka J, Matsumoto A, Hosokawa Y and Inoue S.
  TITLE     Molecular cloning of human cytosolic purine 5'-nucleotidase
  JOURNAL   Biochem Biophys Res Commun 205 (1), 917-922 (1994)
   PUBMED   7999131
REFERENCE   7  (residues 1 to 370)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   8  (residues 1 to 370)
  AUTHORS   Tozzi MG, Camici M, Pesi R, Allegrini S, Sgarrella F and Ipata PL.
  TITLE     Nucleoside phosphotransferase activity of human colon carcinoma
            cytosolic 5'-nucleotidase
  JOURNAL   Arch Biochem Biophys 291 (2), 212-217 (1991)
   PUBMED   1659319
REFERENCE   9  (residues 1 to 370)
  AUTHORS   Spychala J, Madrid-Marina V and Fox IH.
  TITLE     High Km soluble 5'-nucleotidase from human placenta. Properties and
            allosteric regulation by IMP and ATP
  JOURNAL   J Biol Chem 263 (35), 18759-18765 (1988)
   PUBMED   2848805
REFERENCE   10 (residues 1 to 370)
  AUTHORS   Yokota S, Oka J, Ozasa H and Itoh R.
  TITLE     Immunocytochemical localization of cytosol 5'-nucleotidase in
            chicken liver
  JOURNAL   J Histochem Cytochem 36 (8), 983-989 (1988)
   PUBMED   2839573
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC348363.1, DB097637.1,
            DB127914.1, AK291667.1, BC001595.1 and BU618027.1.
            On May 4, 2017 this sequence version replaced XP_005269699.1.
            
            Summary: This gene encodes a hydrolase that serves as an important
            role in cellular purine metabolism by acting primarily on inosine
            5'-monophosphate and other purine nucleotides. [provided by RefSeq,
            Oct 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2772329.1,
                                           SRR14038197.69652.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..370
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.32-q24.33"
     Protein         1..370
                     /product="cytosolic purine 5'-nucleotidase isoform 5"
                     /EC_number="3.1.3.5"
                     /EC_number="3.1.3.99"
                     /EC_number="2.7.1.77"
                     /note="5'-nucleotidase (purine), cytosolic type B;
                     IMP-specific 5'-NT; high Km 5'-nucleotidase; spastic
                     paraplegia 45 (autosomal recessive); epididymis secretory
                     sperm binding protein; cytosolic IMP/GMP-specific
                     5'-nucleotidase; cytosolic nucleoside phosphotransferase
                     5'N"
                     /calculated_mol_wt=42605
     Region          <1..298
                     /region_name="5_nucleotid"
                     /note="5' nucleotidase family; cl17687"
                     /db_xref="CDD:450188"
     CDS             1..370
                     /gene="NT5C2"
                     /gene_synonym="cN-II; GMP; NT5B; PNT5; SPG45; SPG65"
                     /coded_by="NM_001351192.1:1065..2177"
                     /note="isoform 5 is encoded by transcript variant 26"
                     /db_xref="GeneID:22978"
                     /db_xref="HGNC:HGNC:8022"
                     /db_xref="MIM:600417"
ORIGIN      
        1 msyrsmfqdv rdavdwvhyk gslkektven lekyvvkdgk lplllsrmke vgkvflatns
       61 dykytdkimt ylfdfphgpk pgsshrpwqs yfdlilvdar kplffgegtv lrqvdtktgk
      121 lkigtytgpl qhgivysggs sdticdllga kgkdilyigd hifgdilksk krqgwrtflv
      181 ipelaqelhv wtdksslfee lqsldiflae lykhldsssn erpdissiqr rikkvthdmd
      241 mcygmmgslf rsgsrqtlfa sqvmryadly aasfinllyy pfsylfraah vlmphestve
      301 hthvdineme splatrnrts vdfkdtdykr hqltrsisei kppnlfplap qeithchded
      361 ddeeeeeeee
//
LOCUS       NP_001340129             573 aa            linear   PRI 16-MAR-2023
DEFINITION  protein O-mannosyl-transferase 1 isoform h [Homo sapiens].
ACCESSION   NP_001340129
VERSION     NP_001340129.1
DBSOURCE    REFSEQ: accession NM_001353200.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 573)
  AUTHORS   Gan S, Yang H, Xiao T, Pan Z and Wu L.
  TITLE     POMT1 and POMT2 gene mutations result in 2 cases of
            alpha-dystroglycanopathy
  JOURNAL   Zhong Nan Da Xue Xue Bao Yi Xue Ban 46 (8), 915-919 (2021)
   PUBMED   34565739
  REMARK    GeneRIF: POMT1 and POMT2 gene mutations result in 2 cases of
            alpha-dystroglycanopathy.', trans 'POMT1POMT22alpha-.
REFERENCE   2  (residues 1 to 573)
  AUTHORS   Vuorela A, Freitag TL, Leskinen K, Pessa H, Harkonen T, Stracenski
            I, Kirjavainen T, Olsen P, Saarenpaa-Heikkila O, Ilonen J, Knip M,
            Vaheri A, Partinen M, Saavalainen P, Meri S and Vaarala O.
  TITLE     Enhanced influenza A H1N1 T cell epitope recognition and
            cross-reactivity to protein-O-mannosyltransferase 1 in
            Pandemrix-associated narcolepsy type 1
  JOURNAL   Nat Commun 12 (1), 2283 (2021)
   PUBMED   33863907
  REMARK    GeneRIF: Enhanced influenza A H1N1 T cell epitope recognition and
            cross-reactivity to protein-O-mannosyltransferase 1 in
            Pandemrix-associated narcolepsy type 1.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 573)
  AUTHORS   Hu P, Yuan L and Deng H.
  TITLE     Molecular genetics of the POMT1-related muscular
            dystrophy-dystroglycanopathies
  JOURNAL   Mutat Res Rev Mutat Res 778, 45-50 (2018)
   PUBMED   30454682
  REMARK    GeneRIF: In this review, we highlight the present knowledge of the
            identified disease-associated POMT1 gene mutations and genetic
            animal models related to the POMT1 gene.
            Review article
REFERENCE   4  (residues 1 to 573)
  AUTHORS   Chen C, Mei S, Zhu C, Ren Y and Kong X.
  TITLE     [Analysis of POMT1 gene mutation in a pedigree affected with
            congenital muscular dystrophy]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 35 (1), 78-80 (2018)
   PUBMED   29419866
  REMARK    GeneRIF: The child was found to carry a heterozygous missense
            mutation c.1939G>A (p.Ala647Thr) in exon 19 of the
            protein-O-mannosyltransferase 1 (POMT1) gene inherited from the
            mother and a heterozygous frameshift mutation c.2141delG
            (p.Trp714Ter) in exon 20 inherited from the father.
REFERENCE   5  (residues 1 to 573)
  AUTHORS   Sabatelli P, Columbaro M, Mura I, Capanni C, Lattanzi G, Maraldi
            NM, Beltran-Valero de Barnabe D, van Bokoven H, Squarzoni S and
            Merlini L.
  TITLE     Extracellular matrix and nuclear abnormalities in skeletal muscle
            of a patient with Walker-Warburg syndrome caused by POMT1 mutation
  JOURNAL   Biochim Biophys Acta 1638 (1), 57-62 (2003)
   PUBMED   12757935
  REMARK    GeneRIF: Extracellular matrix and nuclear abnormalities in skeletal
            muscle of a patient with Walker-Warburg syndrome caused by POMT1
            mutation.
REFERENCE   6  (residues 1 to 573)
  AUTHORS   Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J,
            van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat
            D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA,
            van Bokhoven H and Brunner HG.
  TITLE     Mutations in the O-mannosyltransferase gene POMT1 give rise to the
            severe neuronal migration disorder Walker-Warburg syndrome
  JOURNAL   Am J Hum Genet 71 (5), 1033-1043 (2002)
   PUBMED   12369018
  REMARK    GeneRIF: Mutations in the O-mannosyltransferase gene POMT1 give
            rise to the severe neuronal migration disorder Walker-Warburg
            syndrome
REFERENCE   7  (residues 1 to 573)
  AUTHORS   Jurado LA, Coloma A and Cruces J.
  TITLE     Identification of a human homolog of the Drosophila rotated abdomen
            gene (POMT1) encoding a putative protein O-mannosyl-transferase,
            and assignment to human chromosome 9q34.1
  JOURNAL   Genomics 58 (2), 171-180 (1999)
   PUBMED   10366449
REFERENCE   8  (residues 1 to 573)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   9  (residues 1 to 573)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   10 (residues 1 to 573)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301468
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL358781.19.
            
            Summary: The protein encoded by this gene is an
            O-mannosyltransferase that requires interaction with the product of
            the POMT2 gene for enzymatic function. The encoded protein is found
            in the membrane of the endoplasmic reticulum. Defects in this gene
            are a cause of Walker-Warburg syndrome (WWS) and limb-girdle
            muscular dystrophy type 2K (LGMD2K). Several transcript variants
            encoding different isoforms have been found for this gene.[provided
            by RefSeq, Oct 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK299646.1, SRR14038193.2813642.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..573
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13"
     Protein         1..573
                     /product="protein O-mannosyl-transferase 1 isoform h"
                     /EC_number="2.4.1.109"
                     /note="protein O-mannosyl-transferase 1;
                     dolichyl-phosphate-mannose--protein mannosyltransferase 1;
                     testis tissue sperm-binding protein Li 57p"
                     /calculated_mol_wt=65544
     Region          <2..568
                     /region_name="PMT1"
                     /note="Dolichyl-phosphate-mannose--protein O-mannosyl
                     transferase [Posttranslational modification, protein
                     turnover, chaperones]; COG1928"
                     /db_xref="CDD:224839"
     CDS             1..573
                     /gene="POMT1"
                     /gene_synonym="LGMD2K; LGMDR11; MDDGA1; MDDGB1; MDDGC1;
                     RT"
                     /coded_by="NM_001353200.2:237..1958"
                     /note="isoform h is encoded by transcript variant 13"
                     /db_xref="CCDS:CCDS94518.1"
                     /db_xref="GeneID:10585"
                     /db_xref="HGNC:HGNC:9202"
                     /db_xref="MIM:607423"
ORIGIN      
        1 mllesvliff nllavlsylk ffncqkhspf slswwfwltl tgvacscavg ikymgvftyv
       61 lvlgvaavha whllgdqtls nvcvfchlla ravallvipv vlyllffyvh lilvfrsgph
      121 dqimssafqa slegglarit qgqplevafg sqvtlrnvfg kpvpcwlhsh qdtypmiyen
      181 grgsshqqqv tcypfkdvnn wwivkdprrh qlvvsspprp vrhgdmvqlv hgmttrslnt
      241 hdvaaplsph sqevscyidy nismpaqnlw rleivnrgsd tdvwktilse vrfvhvntsa
      301 vlklsgahlp dwgyrqleiv geklsrgyhg stvwnveehr ygasqeqrer erelhspaqv
      361 dvsrnlsfma rfselqwrml alrsddsehk ysssplewvt ldtniaywlh prtsaqihll
      421 gniviwvsgs lalaiyalls lwyllrrrrn vhdlpqdawl rwvlagalca ggwavnylpf
      481 flmektlfly hylpaltfqi lllpvvlqhi sdhlcrsqlq rsifsalvva wyssachvsn
      541 tlrpltygdk slsphelkal rwkdswdili rkh
//
LOCUS       NP_001371777            1082 aa            linear   PRI 18-MAR-2023
DEFINITION  microtubule-associated protein 4 isoform 65 [Homo sapiens].
ACCESSION   NP_001371777
VERSION     NP_001371777.1
DBSOURCE    REFSEQ: accession NM_001384848.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1082)
  AUTHORS   Wang L, Paudyal SC, Kang Y, Owa M, Liang FX, Spektor A, Knaut H,
            Sanchez I and Dynlacht BD.
  TITLE     Regulators of tubulin polyglutamylation control nuclear shape and
            cilium disassembly by balancing microtubule and actin assembly
  JOURNAL   Cell Res 32 (2), 190-209 (2022)
   PUBMED   34782749
REFERENCE   2  (residues 1 to 1082)
  AUTHORS   Thapa N, Chen M, Horn HT, Choi S, Wen T and Anderson RA.
  TITLE     Phosphatidylinositol-3-OH kinase signalling is spatially organized
            at endosomal compartments by microtubule-associated protein 4
  JOURNAL   Nat Cell Biol 22 (11), 1357-1370 (2020)
   PUBMED   33139939
  REMARK    GeneRIF: Phosphatidylinositol-3-OH kinase signalling is spatially
            organized at endosomal compartments by microtubule-associated
            protein 4.
REFERENCE   3  (residues 1 to 1082)
  AUTHORS   Guo Y, Zhang X, Xu Q, Gong F, Shi X, Li C, Huang R, Nie F, Zhu W,
            Li J, Tang J, Li R, Zhang L, Chen L and Ma RZ.
  TITLE     Human Papillomavirus 16 oncoprotein E7 retards mitotic progression
            by blocking Mps1-MAP4 signaling cascade
  JOURNAL   Oncogene 38 (31), 5959-5970 (2019)
   PUBMED   31253867
  REMARK    GeneRIF: study reveals a molecular mechanism by which HPV16E7
            perturbs host mitotic progression by interfering Mps1-MAP4
            signaling cascade, which results in an extended infection window
            and may facilitate the persistent HPV16 infection
REFERENCE   4  (residues 1 to 1082)
  AUTHORS   Zhang S, Deen S, Storr SJ, Yao A and Martin SG.
  TITLE     Expression of Syk and MAP4 proteins in ovarian cancer
  JOURNAL   J Cancer Res Clin Oncol 145 (4), 909-919 (2019)
   PUBMED   30737623
  REMARK    GeneRIF: Results suggest that Syk, MAP4, and calpain-1 expression
            are correlated with each other and these proteins may be involved
            in early stages of tumour spread.
REFERENCE   5  (residues 1 to 1082)
  AUTHORS   Shigematsu H, Imasaki T, Doki C, Sumi T, Aoki M, Uchikubo-Kamo T,
            Sakamoto A, Tokuraku K, Shirouzu M and Nitta R.
  TITLE     Structural insight into microtubule stabilization and kinesin
            inhibition by Tau family MAPs
  JOURNAL   J Cell Biol 217 (12), 4155-4163 (2018)
   PUBMED   30275105
  REMARK    GeneRIF: The strongest bond of MAP4 was found around the
            intertubulin-dimer interface such that MAP4 coexists on the
            microtubule with kinesin-1 bound to the intratubulin-dimer
            interface as well.
REFERENCE   6  (residues 1 to 1082)
  AUTHORS   Ookata K, Hisanaga S, Bulinski JC, Murofushi H, Aizawa H, Itoh TJ,
            Hotani H, Okumura E, Tachibana K and Kishimoto T.
  TITLE     Cyclin B interaction with microtubule-associated protein 4 (MAP4)
            targets p34cdc2 kinase to microtubules and is a potential regulator
            of M-phase microtubule dynamics
  JOURNAL   J Cell Biol 128 (5), 849-862 (1995)
   PUBMED   7876309
REFERENCE   7  (residues 1 to 1082)
  AUTHORS   Chapin SJ, Lue CM, Yu MT and Bulinski JC.
  TITLE     Differential expression of alternatively spliced forms of MAP4: a
            repertoire of structurally different microtubule-binding domains
  JOURNAL   Biochemistry 34 (7), 2289-2301 (1995)
   PUBMED   7857940
REFERENCE   8  (residues 1 to 1082)
  AUTHORS   Chapin SJ and Bulinski JC.
  TITLE     Microtubule stabilization by assembly-promoting
            microtubule-associated proteins: a repeat performance
  JOURNAL   Cell Motil Cytoskeleton 23 (4), 236-243 (1992)
   PUBMED   1477887
  REMARK    Review article
REFERENCE   9  (residues 1 to 1082)
  AUTHORS   West RR, Tenbarge KM and Olmsted JB.
  TITLE     A model for microtubule-associated protein 4 structure. Domains
            defined by comparisons of human, mouse, and bovine sequences
  JOURNAL   J Biol Chem 266 (32), 21886-21896 (1991)
   PUBMED   1718985
REFERENCE   10 (residues 1 to 1082)
  AUTHORS   Chapin SJ and Bulinski JC.
  TITLE     Non-neuronal 210 x 10(3) Mr microtubule-associated protein (MAP4)
            contains a domain homologous to the microtubule-binding domains of
            neuronal MAP2 and tau
  JOURNAL   J Cell Sci 98 (Pt 1), 27-36 (1991)
   PUBMED   1905296
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124916.3 and AC139667.5.
            
            Summary: The protein encoded by this gene is a major non-neuronal
            microtubule-associated protein. This protein contains a domain
            similar to the microtubule-binding domains of neuronal
            microtubule-associated protein (MAP2) and microtubule-associated
            protein tau (MAPT/TAU). This protein promotes microtubule assembly,
            and has been shown to counteract destabilization of interphase
            microtubule catastrophe promotion. Cyclin B was found to interact
            with this protein, which targets cell division cycle 2 (CDC2)
            kinase to microtubules. The phosphorylation of this protein affects
            microtubule properties and cell cycle progression. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Aug 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR14038196.900697.1, SRR14038193.2186657.1
                                    [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1082
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..1082
                     /product="microtubule-associated protein 4 isoform 65"
                     /note="MAP-4"
                     /calculated_mol_wt=113663
     Region          <575..919
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <931..952
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          954..983
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          985..1015
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     CDS             1..1082
                     /gene="MAP4"
                     /coded_by="NM_001384848.1:92..3340"
                     /note="isoform 65 is encoded by transcript variant 100"
                     /db_xref="GeneID:4134"
                     /db_xref="HGNC:HGNC:6862"
                     /db_xref="MIM:157132"
ORIGIN      
        1 madlsladal tepspdiege ikrdfiatle aeafddvvge tvgktdyipl ldvdektgns
       61 eskkkpcset sqiedtpssk ptllangghg vegsdttgsp tefleekmay qeypnsqnwp
      121 edtnfcfqpe qvvdpiqtdp fkmyhdddla dlvfpssata dtsifagqnd plkdsygmsp
      181 cntavvpqgw svealnsphs esfvspeava eppqptavpl elakeiemas eerppaqale
      241 immglkttdm apsketemal akdmalatkt evalakdmes ptkldvtlak dmqpsmesdm
      301 alvkdmelpt ekevalvkdv rwptetdvss aknvvlptet evapakdvtl lketeraspi
      361 kmdlapskdm gppkenkket eraspikmdl apskdmgppk enkivpakdl vllseievaq
      421 andiisstei ssaekvalss etevalardm tlppetnvil tkdkalplea evapvkdmaq
      481 lpeteiapak dvapstvkev gllkdmspls etemalgkdv tpppetevvl iknvclppem
      541 evaltedqvp alkteaplak dgvltlannv tpakdvppls eteatpvpik dmeiaqtqkg
      601 isedshlesl qdvgqsaapt fmispetvtg tgkkcslpae edsvleklge rkpcnsqpse
      661 lssetsgiar peegrpvvsg tgndittppn kelppspekk tkplattqpa ktstskaktq
      721 ptslpkqpap ttigglnkkp mslasglvpa appkrpavas arpsilpskd vkpkpiadak
      781 apekraspsk pasapasrsg skstqtvakt ttaaavastg pssrspstll pkkptaikte
      841 gkpaevkkmt aksvpadlsr pkststssmk ktttlsgtap aagvvpsrvk atpmpsrpst
      901 tpfidkkpts akpssttprl srlatntsap dlknvrskvg stenikhqpg ggrvqiqnkk
      961 vdiskvsskc gskanikhkp gggdvkiesq klnfkekaqa kvgsldnvgh lpaggavkte
     1021 gggseaplcp gppageepai seaapeagap tsasglnghp tlsgggdqre aqtldsqiqe
     1081 tn
//
LOCUS       NP_004443                508 aa            linear   PRI 19-MAR-2023
DEFINITION  steroid hormone receptor ERR2 isoform 1 [Homo sapiens].
ACCESSION   NP_004443
VERSION     NP_004443.3
DBSOURCE    REFSEQ: accession NM_004452.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 508)
  AUTHORS   Ghasemnejad T, Shekari Khaniani M, Nouri Nojadeh J and Mansoori
            Derakhshan S.
  TITLE     A novel missense variant in ESRRB gene causing autosomal recessive
            non-syndromic hearing loss: in silico analysis of a case
  JOURNAL   BMC Med Genomics 15 (1), 18 (2022)
   PUBMED   35101039
  REMARK    GeneRIF: A novel missense variant in ESRRB gene causing autosomal
            recessive non-syndromic hearing loss: in silico analysis of a case.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 508)
  AUTHORS   Schuler-Toprak S, Weber F, Skrzypczak M, Ortmann O and Treeck O.
  TITLE     Expression of estrogen-related receptors in ovarian cancer and
            impact on survival
  JOURNAL   J Cancer Res Clin Oncol 147 (9), 2555-2567 (2021)
   PUBMED   34089362
  REMARK    GeneRIF: Expression of estrogen-related receptors in ovarian cancer
            and impact on survival.
REFERENCE   3  (residues 1 to 508)
  AUTHORS   Tang J, Liu T, Wen X, Zhou Z, Yan J, Gao J and Zuo J.
  TITLE     Estrogen-related receptors: novel potential regulators of
            osteoarthritis pathogenesis
  JOURNAL   Mol Med 27 (1), 5 (2021)
   PUBMED   33446092
  REMARK    GeneRIF: Estrogen-related receptors: novel potential regulators of
            osteoarthritis pathogenesis.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 508)
  AUTHORS   Yao B, Zhang S, Wei Y, Tian S, Lu Z, Jin L, He Y, Xie W and Li Y.
  TITLE     Structural Insights into the Specificity of Ligand Binding and
            Coactivator Assembly by Estrogen-Related Receptor beta
  JOURNAL   J Mol Biol 432 (19), 5460-5472 (2020)
   PUBMED   32795533
  REMARK    GeneRIF: Structural Insights into the Specificity of Ligand Binding
            and Coactivator Assembly by Estrogen-Related Receptor beta.
REFERENCE   5  (residues 1 to 508)
  AUTHORS   Gallagher KM, Roderick JE, Tan SH, Tan TK, Murphy L, Yu J, Li R,
            O'Connor KW, Zhu J, Green MR, Sanda T and Kelliher MA.
  TITLE     ESRRB regulates glucocorticoid gene expression in mice and patients
            with acute lymphoblastic leukemia
  JOURNAL   Blood Adv 4 (13), 3154-3168 (2020)
   PUBMED   32658986
  REMARK    GeneRIF: ESRRB regulates glucocorticoid gene expression in mice and
            patients with acute lymphoblastic leukemia.
REFERENCE   6  (residues 1 to 508)
  AUTHORS   Enmark E, Pelto-Huikko M, Grandien K, Lagercrantz S, Lagercrantz J,
            Fried G, Nordenskjold M and Gustafsson JA.
  TITLE     Human estrogen receptor beta-gene structure, chromosomal
            localization, and expression pattern
  JOURNAL   J Clin Endocrinol Metab 82 (12), 4258-4265 (1997)
   PUBMED   9398750
REFERENCE   7  (residues 1 to 508)
  AUTHORS   Sladek R, Beatty B, Squire J, Copeland NG, Gilbert DJ, Jenkins NA
            and Giguere V.
  TITLE     Chromosomal mapping of the human and murine orphan receptors
            ERRalpha (ESRRA) and ERRbeta (ESRRB) and identification of a novel
            human ERRalpha-related pseudogene
  JOURNAL   Genomics 45 (2), 320-326 (1997)
   PUBMED   9344655
REFERENCE   8  (residues 1 to 508)
  AUTHORS   Sem DS, Casimiro DR, Kliewer SA, Provencal J, Evans RM and Wright
            PE.
  TITLE     NMR spectroscopic studies of the DNA-binding domain of the
            monomer-binding nuclear orphan receptor, human estrogen related
            receptor-2. The carboxyl-terminal extension to the zinc-finger
            region is unstructured in the free form of the protein
  JOURNAL   J Biol Chem 272 (29), 18038-18043 (1997)
   PUBMED   9218433
REFERENCE   9  (residues 1 to 508)
  AUTHORS   Shearer,A.E., Hildebrand,M.S. and Smith,R.J.H.
  TITLE     Hereditary Hearing Loss and Deafness Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
REFERENCE   10 (residues 1 to 508)
  AUTHORS   Giguere V, Yang N, Segui P and Evans RM.
  TITLE     Identification of a new class of steroid hormone receptors
  JOURNAL   Nature 331 (6151), 91-94 (1988)
   PUBMED   3267207
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016543.6 and AC008050.6.
            On May 28, 2009 this sequence version replaced NP_004443.2.
            
            Summary: This gene encodes a protein with similarity to the
            estrogen receptor. Its function is unknown; however, a similar
            protein in mouse plays an essential role in placental development.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AY451390.1, BC131517.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..508
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     Protein         1..508
                     /product="steroid hormone receptor ERR2 isoform 1"
                     /note="steroid hormone receptor ERR2; estrogen
                     receptor-like 2; nuclear receptor ERRB2; estrogen-related
                     nuclear receptor beta; orphan nuclear receptor; nuclear
                     receptor subfamily 3 group B member 2"
                     /calculated_mol_wt=56077
     mat_peptide     1..433
                     /product="Steroid hormone receptor ERR2.
                     /id=PRO_0000053662"
                     /note="propagated from UniProtKB/Swiss-Prot (O95718.3)"
                     /calculated_mol_wt=48054
     Region          1..38
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95718.3)"
     Region          93..211
                     /region_name="Interaction with NANOG.
                     /evidence=ECO:0000250|UniProtKB:Q61539"
                     /note="propagated from UniProtKB/Swiss-Prot (O95718.3)"
     Region          98..193
                     /region_name="NR_DBD_ERR"
                     /note="DNA-binding domain of estrogen related receptors
                     (ERR) is composed of two C4-type zinc fingers; cd07170"
                     /db_xref="CDD:143544"
     Site            order(101,113..116,121..122,124..126,128..129,132,
                     152..153,156,159,173..174,177..184)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143544"
     Site            order(103,106,120,123,139,145,155,158)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143544"
     Site            185
                     /site_type="other"
                     /note="Important for stabilizing DNA-binding; propagated
                     from UniProtKB/Swiss-Prot (O95718.3)"
     Region          203..433
                     /region_name="Essential for ESRRB transcriptional activity
                     and interaction with NCOA3.
                     /evidence=ECO:0000250|UniProtKB:Q61539"
                     /note="propagated from UniProtKB/Swiss-Prot (O95718.3)"
     Region          212..431
                     /region_name="NR_LBD_ERR"
                     /note="The ligand binding domain of estrogen
                     receptor-related nuclear receptors; cd06946"
                     /db_xref="CDD:132744"
     Site            order(240,243,247,250,288,301,305,315..317,410,413,415)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:132744"
     Site            order(255,269,272..273,276..277,423..424,427..428)
                     /site_type="other"
                     /note="coactivator recognition site [polypeptide binding]"
                     /db_xref="CDD:132744"
     Site            351
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:132744"
     CDS             1..508
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /coded_by="NM_004452.4:448..1974"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9850.2"
                     /db_xref="GeneID:2103"
                     /db_xref="HGNC:HGNC:3473"
                     /db_xref="MIM:602167"
ORIGIN      
        1 mssddrhlgs scgsfiktep sspssgidal shhspsgssd asggfglalg thangldspp
       61 mfagaglggt pcrksyedca sgimedsaik ceymlnaipk rlclvcgdia sgyhygvasc
      121 eackaffkrt iqgnieyscp atneceitkr rrkscqacrf mkclkvgmlk egvrldrvrg
      181 grqkykrrld sesspylslq isppakkplt kivsyllvae pdklyamppp gmpegdikal
      241 ttlcdladre lvviigwakh ipgfsslslg dqmsllqsaw meililgivy rslpyddklv
      301 yaedyimdee hsrlagllel yrailqlvrr ykklkvekee fvtlkalala nsdsmyiedl
      361 eavqklqdll healqdyels qrheepwrtg kllltlpllr qtaakavqhf ysvklqgkvp
      421 mhklflemle akvgqeqlrg spkdermssh dgkcpfqsaa ftsrdqsnsp gipnprpssp
      481 tplnergrqi spstrtpggq gkhlwltm
//
LOCUS       NP_001001572             386 aa            linear   PRI 19-MAR-2023
DEFINITION  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A
            isoform g [Homo sapiens].
ACCESSION   NP_001001572
VERSION     NP_001001572.1
DBSOURCE    REFSEQ: accession NM_001001572.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 386)
  AUTHORS   Besler C, Rommel KP, Kresoja KP, Morbitz J, Kirsten H, Scholz M,
            Klingel K, Thiery J, Burkhardt R, Buttner P, Adams V, Thiele H and
            Lurz P.
  TITLE     Evaluation of phosphodiesterase 9A as a novel biomarker in heart
            failure with preserved ejection fraction
  JOURNAL   ESC Heart Fail 8 (3), 1861-1872 (2021)
   PUBMED   33787083
  REMARK    GeneRIF: Evaluation of phosphodiesterase 9A as a novel biomarker in
            heart failure with preserved ejection fraction.
REFERENCE   2  (residues 1 to 386)
  AUTHORS   Susmi TF, Rahman A, Khan MMR, Yasmin F, Islam MS, Nasif O, Alharbi
            SA, Batiha GE and Hossain MU.
  TITLE     Prognostic and clinicopathological insights of phosphodiesterase 9A
            gene as novel biomarker in human colorectal cancer
  JOURNAL   BMC Cancer 21 (1), 577 (2021)
   PUBMED   34016083
  REMARK    GeneRIF: Prognostic and clinicopathological insights of
            phosphodiesterase 9A gene as novel biomarker in human colorectal
            cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 386)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 386)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (residues 1 to 386)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (residues 1 to 386)
  AUTHORS   Wang P, Wu P, Egan RW and Billah MM.
  TITLE     Identification and characterization of a new human type 9
            cGMP-specific phosphodiesterase splice variant (PDE9A5).
            Differential tissue distribution and subcellular localization of
            PDE9A variants
  JOURNAL   Gene 314, 15-27 (2003)
   PUBMED   14527714
REFERENCE   7  (residues 1 to 386)
  AUTHORS   Rentero C, Monfort A and Puigdomenech P.
  TITLE     Identification and distribution of different mRNA variants produced
            by differential splicing in the human phosphodiesterase 9A gene
  JOURNAL   Biochem Biophys Res Commun 301 (3), 686-692 (2003)
   PUBMED   12565835
  REMARK    GeneRIF: Identification and distribution of different variants
            produced by differential splicing of phosphodiesterase 9A mRNA.
REFERENCE   8  (residues 1 to 386)
  AUTHORS   Guipponi M, Scott HS, Kudoh J, Kawasaki K, Shibuya K, Shintani A,
            Asakawa S, Chen H, Lalioti MD, Rossier C, Minoshima S, Shimizu N
            and Antonarakis SE.
  TITLE     Identification and characterization of a novel cyclic nucleotide
            phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative
            splicing of mRNA transcripts, genomic structure and sequence
  JOURNAL   Hum Genet 103 (4), 386-392 (1998)
   PUBMED   9856478
REFERENCE   9  (residues 1 to 386)
  AUTHORS   Fisher DA, Smith JF, Pillar JS, St Denis SH and Cheng JB.
  TITLE     Isolation and characterization of PDE9A, a novel human
            cGMP-specific phosphodiesterase
  JOURNAL   J Biol Chem 273 (25), 15559-15564 (1998)
   PUBMED   9624146
REFERENCE   10 (residues 1 to 386)
  AUTHORS   Loughney K, Martins TJ, Harris EA, Sadhu K, Hicks JB, Sonnenburg
            WK, Beavo JA and Ferguson K.
  TITLE     Isolation and characterization of cDNAs corresponding to two human
            calcium, calmodulin-regulated, 3',5'-cyclic nucleotide
            phosphodiesterases
  JOURNAL   J Biol Chem 271 (2), 796-806 (1996)
   PUBMED   8557689
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001626.1, AI492065.1,
            AY196301.1, BC009047.1, AF048837.1 and AF067223.1.
            
            Summary: The protein encoded by this gene catalyzes the hydrolysis
            of cAMP and cGMP to their corresponding monophosphates. The encoded
            protein plays a role in signal transduction by regulating the
            intracellular concentration of these cyclic nucleotides. Multiple
            transcript variants encoding several different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (7) lacks four alternate exons
            compared to variant 1. The resulting predicted isoform (g) has a
            shorter N-terminus compared to isoform a. Variants 7, 8, 14, 19,
            and 20 all encode isoform g.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY196301.1, SRR14038193.1023616.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155590, SAMN03465402
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..386
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..386
                     /product="high affinity cGMP-specific 3',5'-cyclic
                     phosphodiesterase 9A isoform g"
                     /EC_number="3.1.4.35"
                     /note="CGMP-specific 3',5'-cyclic phosphodiesterase type
                     9; high affinity cGMP-specific 3',5'-cyclic
                     phosphodiesterase 9A; phosphodiesterase PDE9A21"
                     /calculated_mol_wt=45159
     Region          104..332
                     /region_name="PDEase_I"
                     /note="3'5'-cyclic nucleotide phosphodiesterase;
                     pfam00233"
                     /db_xref="CDD:425542"
     Site            order(109,145..146,255)
                     /site_type="other"
                     /note="Zn2+ binding site [ion binding]"
                     /db_xref="CDD:238032"
     Site            146
                     /site_type="other"
                     /note="Mg2+ binding site [ion binding]"
                     /db_xref="CDD:238032"
     CDS             1..386
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /coded_by="NM_001001572.2:443..1603"
                     /note="isoform g is encoded by transcript variant 7"
                     /db_xref="GeneID:5152"
                     /db_xref="HGNC:HGNC:8795"
                     /db_xref="MIM:602973"
ORIGIN      
        1 mreelaarss rtncpckysf ldnhkkltpr rdvptypkyl lspetiealr kptfdvwlwe
       61 pnemlscleh myhdlglvrd fsinpvtlrr wlfcvhdnyr nnpfhnfrhc fcvaqmmysm
      121 vwlcslqekf sqtdililmt aaichdldhp gynntyqina rtelavrynd isplenhhca
      181 vafqilaepe cnifsnippd gfkqirqgmi tlilatdmar haeimdsfke kmenfdysne
      241 ehmtllkmil ikccdisnev rpmevaepwv dclleeyfmq sdrekseglp vapfmdrdkv
      301 tkataqigfi kfvlipmfet vtklfpmvee imlqplwesr dryeelkrid damkelqkkt
      361 dsltsgatek srersrdvkn segdca
//
LOCUS       XP_047273297             408 aa            linear   PRI 20-MAR-2023
DEFINITION  ZZ-type zinc finger-containing protein 3 isoform X3 [Homo sapiens].
ACCESSION   XP_047273297
VERSION     XP_047273297.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417341.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..408
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..408
                     /product="ZZ-type zinc finger-containing protein 3 isoform
                     X3"
                     /calculated_mol_wt=47486
     Region          160..208
                     /region_name="SANT"
                     /note="'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains.
                     Tandem copies of the domain bind telomeric DNA tandem
                     repeatsas part of the capping complex. Binding is sequence
                     dependent for repeats which contain the G/C rich motif
                     [C2-3 A (CA)1-6]. The domain is...; cd00167"
                     /db_xref="CDD:238096"
     Site            order(160,195..196,198..199,201..203,205..207)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238096"
     Region          326..377
                     /region_name="ZZ_ZZZ3"
                     /note="Zinc finger, ZZ type. Zinc finger present in ZZZ3
                     (ZZ finger containing 3) and related proteins. The ZZ
                     motif coordinates two zinc ions and most likely
                     participates in ligand binding or molecular scaffolding;
                     cd02341"
                     /db_xref="CDD:239081"
     Site            order(328,331,343,346,358,361,368,372)
                     /site_type="other"
                     /note="Zinc-binding sites [ion binding]"
                     /db_xref="CDD:239081"
     Site            order(328,331,358,361)
                     /site_type="other"
                     /note="zinc cluster 1 [ion binding]"
                     /db_xref="CDD:239081"
     Site            order(329,340,342,354,356)
                     /site_type="active"
                     /note="putative charged binding surface [active]"
                     /db_xref="CDD:239081"
     Site            order(341,362,374,377)
                     /site_type="active"
                     /note="putative hydrophobic binding surface [active]"
                     /db_xref="CDD:239081"
     Site            order(343,346,368,372)
                     /site_type="other"
                     /note="zinc cluster 2 [ion binding]"
                     /db_xref="CDD:239081"
     CDS             1..408
                     /gene="ZZZ3"
                     /gene_synonym="ATAC1"
                     /coded_by="XM_047417341.1:403..1629"
                     /db_xref="GeneID:26009"
                     /db_xref="HGNC:HGNC:24523"
                     /db_xref="MIM:619892"
ORIGIN      
        1 midlwlysyq rllqtiavle aqrsqavqdl eslgrhqrea lknpigfvek lqkkadiglp
       61 ypqrvvqlpe ivwdqythsl gnferefknr krhtrrvklv fdkglparpk spldpkkdge
      121 slsysmlpls dgpegsssrp qmirgrlcdd tkpetfnqlw tveeqkkleq llikyppeev
      181 esrrwqkiad elgnrtakqv asrvqkyfik ltkagipvpg rtpnlyiysk ksstsrrqhp
      241 lnkhlfkpst fmtsheppvy mdedddrscf hshmntaved asddesipim yrnlpeykel
      301 lqfkklkkqk lqqmqaesgf vqhvgfkcdn cgiepiqgvr whcqdcppem sldfcdscsd
      361 clhetdihke dhqlepiyrs etfldrdycv sqgtsynyld pnyfpanr
//
LOCUS       XP_011539729             369 aa            linear   PRI 20-MAR-2023
DEFINITION  potassium voltage-gated channel subfamily D member 3 isoform X5
            [Homo sapiens].
ACCESSION   XP_011539729
VERSION     XP_011539729.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011541427.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..369
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..369
                     /product="potassium voltage-gated channel subfamily D
                     member 3 isoform X5"
                     /calculated_mol_wt=42129
     Region          6..143
                     /region_name="BTB_POZ_KCND3"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in potassium
                     voltage-gated channel subfamily D member 3 (KCND3);
                     cd18419"
                     /db_xref="CDD:349726"
     Site            order(7..19,21..22,26..27,29,31,34,36..37,39,54)
                     /site_type="other"
                     /note="beta subunit interface [polypeptide binding]"
                     /db_xref="CDD:349726"
     Site            order(41,45,47..54,57,83,85..87,89,92,96,99..100,102,104,
                     107..110,112..113,116,131..132)
                     /site_type="other"
                     /note="tetramer interface [polypeptide binding]"
                     /db_xref="CDD:349726"
     Region          186..>369
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     CDS             1..369
                     /gene="KCND3"
                     /gene_synonym="BRGDA9; KCND3L; KCND3S; KSHIVB; KV4.3;
                     SCA19; SCA22"
                     /coded_by="XM_011541427.4:237..1346"
                     /db_xref="GeneID:3752"
                     /db_xref="HGNC:HGNC:6239"
                     /db_xref="MIM:605411"
ORIGIN      
        1 maagvaawlp faraaaigwm pvancpmpla padknkrqde livlnvsgrr fqtwrttler
       61 ypdtllgste kefffnedtk eyffdrdpev frcvlnfyrt gklhypryec isayddelaf
      121 ygilpeiigd ccyeeykdrk renaerlmdd ndsennqesm pslsfrqtmw rafenphtst
      181 lalvfyyvtg ffiavsvitn vvetvpcgtv pgskelpcge rysvaffcld tacvmiftve
      241 yllrlfaaps ryrfirsvms iidvvaimpy yiglvmtnne dvsgafvtlr vfrvfrifkf
      301 srhsqglril gytlkscase lgfllfsltm aiiifatvmf yaekgssask ftsipasfwy
      361 tivtmttlg
//
LOCUS       XP_047276473             447 aa            linear   PRI 20-MAR-2023
DEFINITION  putative C-type lectin domain family 20 member A isoform X7 [Homo
            sapiens].
ACCESSION   XP_047276473
VERSION     XP_047276473.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420517.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..447
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..447
                     /product="putative C-type lectin domain family 20 member A
                     isoform X7"
                     /calculated_mol_wt=48989
     Region          69..179
                     /region_name="CLECT_1"
                     /note="C-type lectin (CTL)/C-type lectin-like (CTLD)
                     domain subgroup 1; a subgroup of protein domains
                     homologous to the carbohydrate-recognition domains (CRDs)
                     of the C-type lectins; cd03602"
                     /db_xref="CDD:153072"
     Site            order(150,154,156,163,165..168,171..173)
                     /site_type="other"
                     /note="ligand binding surface [chemical binding]"
                     /db_xref="CDD:153072"
     Region          209..322
                     /region_name="CLECT"
                     /note="C-type lectin (CTL)/C-type lectin-like (CTLD)
                     domain; cl02432"
                     /db_xref="CDD:445781"
     Site            order(293,301,303,307,309..312,315..317)
                     /site_type="other"
                     /note="ligand binding surface [chemical binding]"
                     /db_xref="CDD:153057"
     CDS             1..447
                     /gene="CLEC20A"
                     /gene_synonym="LINC00083; NCRNA00083"
                     /coded_by="XM_047420517.1:89..1432"
                     /db_xref="GeneID:400797"
                     /db_xref="HGNC:HGNC:34521"
ORIGIN      
        1 mdlfrilqaa spaphtllaa tdtgprqlrg lvpcpastqp spsqcpamlp ralllsfcaa
       61 alqlvsskrd lvlvkealsw ydaqqhcrlh ytdladlqps glwklyslmt stpawiglff
      121 dastsglrws sgstftalew gqklpefgvg fcatlytwlk lpsigaasct aqkpflcycd
      181 pdvghlistk pslslttspk pavvqisgqt fmrfdqvmtw ssallycrsh htdladlqmv
      241 tdetgkealr simseteawi glylnansgs lswssdlgas ipswlqvpmm vrglctalgi
      301 ymtyspkvys vncssllpff cfydsstghr asaelpplfh tsptemteet tprpgravas
      361 vgsgtdrrdt aaateaqhls seskektsaq ksghpfgilk adftistlmd peemkdqflr
      421 qiqevlkltl gheqfrlkwv sfevnkk
//
LOCUS       XP_047277149             538 aa            linear   PRI 20-MAR-2023
DEFINITION  adenine DNA glycosylase isoform X2 [Homo sapiens].
ACCESSION   XP_047277149
VERSION     XP_047277149.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421193.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..538
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..538
                     /product="adenine DNA glycosylase isoform X2"
                     /calculated_mol_wt=58991
     Region          81..483
                     /region_name="MutY"
                     /note="Adenine-specific DNA glycosylase, acts on AG and
                     A-oxoG pairs [Replication, recombination and repair];
                     COG1194"
                     /db_xref="CDD:224115"
     CDS             1..538
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /coded_by="XM_047421193.1:769..2385"
                     /db_xref="GeneID:4595"
                     /db_xref="HGNC:HGNC:7527"
                     /db_xref="MIM:604933"
ORIGIN      
        1 maykaimrkp raavgsghrk qaasqegrqk haknnsqakp sacdgmiaec pgapaglarq
       61 peevvlqasv ssyhlfrdva evtafrgsll swydqekrdl pwrrraedem dldrrayavw
      121 vsevmlqqtq vatvinyytg wmqkwptlqd lasasleevn qlwaglgyys rgrrlqegar
      181 kvveelgghm prtaetlqql lpgvgrytag aiasiafgqa tgvvdgnvar vlcrvraiga
      241 dpsstlvsqq lwglaqqlvd parpgdfnqa amelgatvct pqrplcsqcp veslcrarqr
      301 veqeqllasg slsgspdvee capntgqchl clppsepwdq tlgvvnfprk asrkpprees
      361 satcvleqpg algaqillvq rpnsgllagl wefpsvtwep seqlqrkall qelqrwagpl
      421 pathlrhlge vvhtfshikl tyqvyglale gqtpvttvpp garwltqeef htaavstamk
      481 kvfrvyqgqq pgtcmgskrs qvsspcsrkk prmgqqvldn ffrshistda hslnsaaq
//
LOCUS       XP_047284226             292 aa            linear   PRI 20-MAR-2023
DEFINITION  CMP-N-acetylneuraminate-beta-1,4-galactoside
            alpha-2,3-sialyltransferase isoform X14 [Homo sapiens].
ACCESSION   XP_047284226
VERSION     XP_047284226.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428270.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..292
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..292
                     /product="CMP-N-acetylneuraminate-beta-1,4-galactoside
                     alpha-2,3-sialyltransferase isoform X14"
                     /calculated_mol_wt=33070
     Region          131..>265
                     /region_name="Glyco_transf_29"
                     /note="Glycosyltransferase family 29 (sialyltransferase);
                     pfam00777"
                     /db_xref="CDD:425864"
     CDS             1..292
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /coded_by="XM_047428270.1:189..1067"
                     /db_xref="GeneID:6487"
                     /db_xref="HGNC:HGNC:10866"
                     /db_xref="MIM:606494"
ORIGIN      
        1 mgllvfvrnl llalclflvl gflyysawkl hllqweedss kyshssspqe kpvadsvvls
       61 fdsagqtlgs eydrlgflln ldsklpaela tkyanfsega ckpgyasalm taifprfskp
      121 apmflddsfr kwarirefvp pfgikgqdnl ikailsvtke yrltpaldsl rcrrciivgn
      181 ggvlankslg sriddydivv rlnsapvkgf ekdvgskttl ritypegamq rpeqyerdsl
      241 fvlagfkwqd fkwlkyivyk ervswthniq rekeflrklv karvitdlss gi
//
LOCUS       XP_011537881             691 aa            linear   PRI 20-MAR-2023
DEFINITION  heat shock 70 kDa protein 12A isoform X1 [Homo sapiens].
ACCESSION   XP_011537881
VERSION     XP_011537881.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011539579.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..691
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..691
                     /product="heat shock 70 kDa protein 12A isoform X1"
                     /calculated_mol_wt=76757
     Region          73..539
                     /region_name="HSPA12A_like_NBD"
                     /note="Nucleotide-binding domain of HSPA12A and similar
                     proteins; cd11735"
                     /db_xref="CDD:212685"
     Site            order(78,80..83,156,220,254,331..336,338,364..365,403,
                     406..407,498..500,502..503,527)
                     /site_type="other"
                     /note="nucleotide binding site [chemical binding]"
                     /db_xref="CDD:212685"
     Site            order(101,128,132,135..136,198..199,393,396..397,400,404,
                     420,422..423)
                     /site_type="other"
                     /note="putative NEF/HSP70 interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:212685"
     Site            order(225..226,228..229,250..251,253,351..354)
                     /site_type="other"
                     /note="SBD interface [polypeptide binding]"
                     /db_xref="CDD:212685"
     CDS             1..691
                     /gene="HSPA12A"
                     /coded_by="XM_011539579.3:218..2293"
                     /db_xref="GeneID:259217"
                     /db_xref="HGNC:HGNC:19022"
                     /db_xref="MIM:610701"
ORIGIN      
        1 mesvgvygfc gckaknkmkc dsrweiaase taptsayssp arslgdtgit plspshivnd
       61 tdsnvseqqs flvvvavdfg ttssgyaysf tkepecihvm rrweggdpgv snqktpttil
      121 ltperkfhsf gyaardfyhd ldpneakqwl ylekfkmklh ttgdltmdtd ltaangkkvk
      181 aleifayalq yfkeqalkel sdqagsefen sdvrwvitvp aiwkqpakqf mrqaayqagl
      241 aspenseqli ialepeaasi ycrklrlhqm ielsskaavn gysgsdtvga gftqakehir
      301 rnrqsrtflv envigeiwse leegdkyvvv dsgggtvdlt vhqirlpegh lkelykatgg
      361 pygslgvdye fekllykifg edfieqfkik rpaawvdlmi afesrkraaa pdrtnplnit
      421 lpfsfidyyk kfrghsveha lrksnvdfvk wssqgmlrms pdamnalfkp tidsiiehlr
      481 dlfqkpevst vkflflvggf aeapllqqav qaafgdqcri iipqdvglti lkgavlfgld
      541 pavikvrrsp ltygvgvlnr yvegkhppek llvkdgtrwc tdvfdkfisa dqsvalgelv
      601 krsytpakps qlviviniys sehdnvsfit dpgvkkcgtl rldltgtsgt avparreiqt
      661 lmqfgdteik ataidiatsk svkvgidfln y
//
LOCUS       XP_047281889             342 aa            linear   PRI 20-MAR-2023
DEFINITION  pre-mRNA-splicing factor 18 isoform X2 [Homo sapiens].
ACCESSION   XP_047281889
VERSION     XP_047281889.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425933.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..342
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..342
                     /product="pre-mRNA-splicing factor 18 isoform X2"
                     /calculated_mol_wt=39729
     Region          79..122
                     /region_name="SFM"
                     /note="Splicing Factor Motif, present in Prp18 and Pr04;
                     smart00500"
                     /db_xref="CDD:128776"
     Region          190..330
                     /region_name="Prp18"
                     /note="Prp18 domain; pfam02840"
                     /db_xref="CDD:427015"
     CDS             1..342
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /coded_by="XM_047425933.1:123..1151"
                     /db_xref="GeneID:8559"
                     /db_xref="HGNC:HGNC:17351"
                     /db_xref="MIM:604993"
ORIGIN      
        1 mdilkseilr krqlvedrnl lvenkkyfkr selakkeeea yfercgykiq pkeedqkplt
       61 ssnpvlelel aeeklpmtls rqevirrlre rgepirlfge tdydafqrlr kieiltpevn
      121 kglrndlkaa ldkidqqyln eivggqepge edtqndlkvh eenttieele algeslgkgd
      181 dhkdmdiitk flkfllgvwa kelnaredyv krsvqgklns atqkqtesyl rplfrklrkr
      241 nlpadikesi tdiikfmlqr eyvkandayl qmaignapwp igvtmvgiha rtgrekifsk
      301 hvahvlndet qrkyiqglkr lmticqkhfp tdpskcveyn al
//
LOCUS       XP_016872473             482 aa            linear   PRI 20-MAR-2023
DEFINITION  G protein-regulated inducer of neurite outgrowth 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_016872473
VERSION     XP_016872473.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017016984.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..482
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..482
                     /product="G protein-regulated inducer of neurite outgrowth
                     2 isoform X1"
                     /calculated_mol_wt=49933
     Region          373..474
                     /region_name="GRIN_C"
                     /note="G protein-regulated inducer of neurite outgrowth
                     C-terminus; pfam15235"
                     /db_xref="CDD:434557"
     CDS             1..482
                     /gene="GPRIN2"
                     /gene_synonym="GRIN2; KIAA0514"
                     /coded_by="XM_017016984.3:2673..4121"
                     /db_xref="GeneID:9721"
                     /db_xref="HGNC:HGNC:23730"
                     /db_xref="MIM:611240"
ORIGIN      
        1 mlneslmeka dawglslple leaamsssrp epgpwaplsp rlqplsqsss sllgegreqr
       61 pelrktasst vwqaqlgeas trpqapeeeg nppesmkpar asgpkarpsa gghwwsstvg
      121 nvstmggsdl crlrapsaaa mqrshsdlvr stqmrghsga rkaslscsal gsspvhraql
      181 qpggtsgqgg qapaglerdl apedetsnsa wmlgasqlsv ppldlgdtta hsssaqaepk
      241 aaeqlatttc halppaallc gmrevraggc chalpatgil afpklvasvs esglqaqhgv
      301 kihcrlsggl pghshccahl wgpaglvpep gsrtkdvwtm tsandlapae asplsaqdag
      361 vqaapvaack avatspslea paalhvfpev tlgssleevp spvrdvrwda egmtwevyga
      421 avdlevlgva iqkhlemqfe qlqrapased slsvegrrgp lravmqslrr psccgcsgaa
      481 pe
//
LOCUS       XP_047282420             311 aa            linear   PRI 20-MAR-2023
DEFINITION  protein MFI isoform X4 [Homo sapiens].
ACCESSION   XP_047282420
VERSION     XP_047282420.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426464.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..311
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..311
                     /product="protein MFI isoform X4"
                     /calculated_mol_wt=36507
     Region          9..263
                     /region_name="C11orf65"
                     /note="chromosome 11 open reading frame 65 and homologs;
                     cd21090"
                     /db_xref="CDD:411042"
     CDS             1..311
                     /gene="C11orf65"
                     /gene_synonym="MFI"
                     /coded_by="XM_047426464.1:162..1097"
                     /db_xref="GeneID:160140"
                     /db_xref="HGNC:HGNC:28519"
ORIGIN      
        1 mpwkeeseft kqdkaarviq qawksflnva ifqhfkslid lrrqgeprqi vkyinpkeae
       61 lldaaagihv rfrlggvkfp pdiyykifth rpiedlcans prnyaklpak htshnkndhl
      121 qeedhsgwyh rienngwrpv sdtfwlstdg mvvedkkese fhfsklkrrq dlekkrklrk
      181 iewmrqmyys gsleaksthh etlglihtat kglirafedg gidsvmewev devlnwtntl
      241 nfdeyiaswk eiatsnssan fkgfrfnqaq kniynyggdi skmqmgipdd tyyenvyqep
      301 niytlkclqm k
//
LOCUS       XP_016873257             657 aa            linear   PRI 20-MAR-2023
DEFINITION  menin isoform X1 [Homo sapiens].
ACCESSION   XP_016873257
VERSION     XP_016873257.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017768.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..657
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..657
                     /product="menin isoform X1"
                     /calculated_mol_wt=72771
     Region          2..655
                     /region_name="Menin"
                     /note="pfam05053"
                     /db_xref="CDD:398642"
     Site            order(92,95..96,98..99,101..105)
                     /site_type="other"
                     /note="LEDGF interaction interface [polypeptide binding]"
                     /db_xref="CDD:271218"
     Site            order(136..138,158..160,183..186,243,246,249,251,283,287,
                     324,328,406,410)
                     /site_type="other"
                     /note="MLL1 binding site [polypeptide binding]"
                     /db_xref="CDD:271218"
     CDS             1..657
                     /gene="MEN1"
                     /gene_synonym="MEAI; SCG2"
                     /coded_by="XM_017017768.2:81..2054"
                     /db_xref="GeneID:4221"
                     /db_xref="HGNC:HGNC:7010"
                     /db_xref="MIM:613733"
ORIGIN      
        1 mglkaaqktl fplrsiddvv rlfaaelgre epdlvllslv lgfvehflav nrviptnvpe
       61 ltfqpspapd ppggltyfpv adlsiiaaly arftaqirga vdlslypreg gvssrelvkk
      121 vsdviwnsls rsyfkdrahi qslfsfitgw spvgtkldss gvafavvgac qalglrdvhl
      181 alsedhawvv fgpngeqtae vtwhgkgned rrgqtvnagv aerswlylkg symrcdrkme
      241 vafmvcainp sidlhtdsle llqlqqkllw llydlghler ypmalgnlad leeleptpgr
      301 pdpltlyhkg iasaktyyrd ehiypymyla gyhcrnrnvr ealqawadta tviqetvsnl
      361 qclttiiqqw dfhprphapl lilafflwad pdsiilhyny credeeiyke ffevandvip
      421 nllkeaasll eageerpgeq sqgtqsqgsa lqdpecfahl lrfydgickw eegsptpvlh
      481 vgwatflvqs lgrfegqvrq kvrivsreae aaeaeepwge earegrrrgp rreskpeepp
      541 ppkkpaldkg lgtgqgavsg pprkppgtva gtargpeggs taqvpaptas pppegpvltf
      601 qsekmkgmke llvatkinss aiklqltaqs qvqmkkqkvs tpsdytlsfl krqrkgl
//
LOCUS       XP_011518810            1385 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 66 isoform X2 [Homo sapiens].
ACCESSION   XP_011518810
VERSION     XP_011518810.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011520508.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1385
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1385
                     /product="tripartite motif-containing protein 66 isoform
                     X2"
                     /calculated_mol_wt=152681
     Region          149..185
                     /region_name="Bbox1_TRIM66"
                     /note="B-box-type 1 zinc finger found in tripartite
                     motif-containing protein 66 (TRIM66) and similar proteins;
                     cd19811"
                     /db_xref="CDD:380869"
     Region          208..250
                     /region_name="Bbox2_TRIM66-like"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein 66 (TRIM66) and similar proteins;
                     cd19794"
                     /db_xref="CDD:380852"
     Region          253..378
                     /region_name="BBC"
                     /note="B-Box C-terminal domain; smart00502"
                     /db_xref="CDD:128778"
     Region          1145..1193
                     /region_name="PHD_SF"
                     /note="PHD finger superfamily; cl22851"
                     /db_xref="CDD:451427"
     Site            order(1148,1158..1161,1165,1185)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:276966"
     Region          1218..1326
                     /region_name="Bromo_tif1_like"
                     /note="Bromodomain; tif1_like subfamily. Tif1
                     (transcription intermediary factor 1) is a member of the
                     tripartite motif (TRIM) protein family, which is
                     characterized by a particular domain architecture. It
                     functions by recruiting coactivators and/or...; cd05502"
                     /db_xref="CDD:99934"
     Site            order(1246,1250,1253,1295,1299,1305)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99934"
     CDS             1..1385
                     /gene="TRIM66"
                     /gene_synonym="C11orf29; TIF1D; TIF1DELTA"
                     /coded_by="XM_011520508.3:613..4770"
                     /db_xref="GeneID:9866"
                     /db_xref="HGNC:HGNC:29005"
                     /db_xref="MIM:612000"
ORIGIN      
        1 marlsfwsqg velarstrcf spedisgkap vlgtgmavdm gmsfmglpla gqkhcpksgq
       61 meamvmtcsl chqdlpgmgs hllscqhllr kdcfqgliqe lgqiakahet vadeliscpg
      121 cervyltrdv tehfflhcvp teqpkmarnc seckekraah ilctycnrwl csscteehrh
      181 spvpggpffp raqkgspgvn ggpgdftlyc plhtqevlkl fcetcdmltc hsclvvehke
      241 hrcrhveevl qnqrmllegv ttqvahkkss lqtsakqied rifevkhqhr kvenqikmak
      301 mvlmnelnkq anglieeleg itnerkrkle qqlqsimvln rqfehvqnfi nwavcsktsv
      361 pflfskeliv fqmqrllets cntdpgspws irftwepnfw tkqlaslgci tteggqmsra
      421 dapaygglqg sspfyqshqs pvaqqealsh pshkfqspav csssvccshc spvspslkgq
      481 vpppsihpah sfrqppemvp qqlgslqcsa llprekelac sphppkllqp wletqppveq
      541 estsqrlgqq ltsqpvcivp pqdvqqgaha qptlqtpsiq vqfghhqklk lshfqqqpqq
      601 qlpppppplp hpppplpppp qqphpplpps qhlassqhes ppgpacsqnm dimhhkfele
      661 emqkdlelll qaqqpslqls qtkspqhlqq tivgqinyiv rqpapvqsqs qeetlqatde
      721 ppasqgskpa lpldkntaaa lpqasgeetp lsvppvdsti qhsspnvvrk hstslsimgf
      781 sntlemelss trlerplepq iqsvsnltag apqavpslls appkmvsslt svqnqampsl
      841 ttshlqtvps lvhstfqsmp nlisdspqam aslasdhpqa gpslmsghtq avpslatcpl
      901 qsippvsdmq petgsssssg rtsgslcprd gadpslenal ckmesedstr ftdllgqgpi
      961 vpgldapkdl aipseleepi nlsvkkppla pvvststalq qyqnpkecen feqgalelda
     1021 kenqsirafn sehkipyvrl erlkicaass gempvfklkp qkndqdgsfl liiecgtess
     1081 smsikvsqdr lseatqapgl egrkvtvtsl agqrppeveg tspeehrlip rtpgakkgpp
     1141 apienedfca vclnggellc cdrcpkvfhl schvpallsf pggewvctlc rsltqpemey
     1201 dcenacynqp gmraspglsm ydqkkceklv lslccnnlsl pfhepvspla rhyyqiikrp
     1261 mdlsiirrkl qkkdpahytt peevvsdvrl mfwncakfny pdsevaeagr clevffegwl
     1321 keiypekrfa qprqedsdse evssesgcst pqgfpwppym qegiqpkrrr rhmvksycqp
     1381 aaggr
//
LOCUS       XP_024304740             181 aa            linear   PRI 20-MAR-2023
DEFINITION  ADP-ribosylation factor 3 isoform X1 [Homo sapiens].
ACCESSION   XP_024304740
VERSION     XP_024304740.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024448972.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..181
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..181
                     /product="ADP-ribosylation factor 3 isoform X1"
                     /calculated_mol_wt=20470
     Region          5..179
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:422963"
     Site            24..31
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206717"
     Site            order(26..32,126..127,129,159..161)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206717"
     Site            order(26..27,31,35,47..54,76,81)
                     /site_type="other"
                     /note="putative GAP interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:206717"
     Site            36..51
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206717"
     Site            order(48..52,57,67,71,73,77,79..81)
                     /site_type="other"
                     /note="GEF interaction site [polypeptide binding]"
                     /db_xref="CDD:206717"
     Site            48
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206717"
     Site            order(49..51,73,80)
                     /site_type="active"
                     /note="effector interaction site [active]"
                     /db_xref="CDD:206717"
     Site            51..66
                     /site_type="active"
                     /note="interswitch region [active]"
                     /db_xref="CDD:206717"
     Site            67..70
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206717"
     Site            69..86
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206717"
     Site            126..129
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206717"
     Site            159..161
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206717"
     CDS             1..181
                     /gene="ARF3"
                     /coded_by="XM_024448972.2:1245..1790"
                     /db_xref="GeneID:377"
                     /db_xref="HGNC:HGNC:654"
                     /db_xref="MIM:103190"
ORIGIN      
        1 mgnifgnllk sligkkemri lmvgldaagk ttilyklklg eivttiptig fnvetveykn
       61 isftvwdvgg qdkirplwrh yfqntqglif vvdsndrerv neareelmrm laedelrdav
      121 llvfankqdl pnamnaaeit dklglhslrh rnwyiqatca tsgdglyegl dwlanqlknk
      181 k
//
LOCUS       XP_047286391             417 aa            linear   PRI 20-MAR-2023
DEFINITION  paraspeckle component 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047286391
VERSION     XP_047286391.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430435.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..417
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..417
                     /product="paraspeckle component 1 isoform X2"
                     /calculated_mol_wt=48231
     Region          81..151
                     /region_name="RRM1_PSP1"
                     /note="RNA recognition motif 1 (RRM1) found in vertebrate
                     paraspeckle protein 1 (PSP1); cd12586"
                     /db_xref="CDD:409999"
     Site            order(81,128,131..132,135..136,138)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:409999"
     Region          157..236
                     /region_name="RRM2_PSP1"
                     /note="RNA recognition motif 2 (RRM2) found in vertebrate
                     paraspeckle protein 1 (PSP1 or PSPC1); cd12589"
                     /db_xref="CDD:410002"
     Site            order(162,165..171,175,178..179,184,186..191,196,200,
                     215..222,224..229,231)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:410002"
     Region          227..319
                     /region_name="NOPS_p54nrb_PSF_PSPC1"
                     /note="NOPS domain, including C-terminal coiled-coil
                     region, in p54nrb/PSF/PSPC1 family proteins; cd12946"
                     /db_xref="CDD:240581"
     Site            order(227..229,231,271..272,274..276,278..280,282..283,
                     285..286,289..290,293..294,296..297,300..301,304..305,
                     307..308,311..312,315)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:240581"
     CDS             1..417
                     /gene="PSPC1"
                     /gene_synonym="PSP1"
                     /coded_by="XM_047430435.1:189..1442"
                     /db_xref="GeneID:55269"
                     /db_xref="HGNC:HGNC:20320"
                     /db_xref="MIM:612408"
ORIGIN      
        1 mmlrgnlkqv rieknparlr alesavgese paaaaamala lagepappap appedhpdee
       61 mgftidiksf lkpgektytq rcrlfvgnlp tditeedfkr lferygepse vfinrdrgfg
      121 firlesrtla eiakaeldgt ilksrplrir fathgaaltv knlspvvsne lleqafsqfg
      181 pvekavvvvd drgratgkgf vefaakppar kalercgdga flltttprpv ivepmeqfdd
      241 edglpeklmq ktqqyhkere qpprfaqpgt fefeyasrwk aldemekqqr eqvdrnirea
      301 kekleaemea arhehqlmlm rqdlmrrqee lrrleelrnq elqkrkqiql rheeehrrre
      361 eemirhreqe elrrqqegfk pnymenvylm sfhlkwvike nvaevtrssa csviqks
//
LOCUS       XP_047286668             648 aa            linear   PRI 20-MAR-2023
DEFINITION  sciellin isoform X16 [Homo sapiens].
ACCESSION   XP_047286668
VERSION     XP_047286668.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430712.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..648
                     /product="sciellin isoform X16"
                     /calculated_mol_wt=72916
     Region          580..638
                     /region_name="LIM"
                     /note="Zinc-binding domain present in Lin-11, Isl-1,
                     Mec-3; smart00132"
                     /db_xref="CDD:214528"
     Site            order(581,584,604,607,610,613,635,638)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:259829"
     CDS             1..648
                     /gene="SCEL"
                     /coded_by="XM_047430712.1:139..2085"
                     /db_xref="GeneID:8796"
                     /db_xref="HGNC:HGNC:10573"
                     /db_xref="MIM:604112"
ORIGIN      
        1 msnvtlrkms ptgnemkstt qgttrkqqdf hevnkrrtfl qdnswikkrp eeekdenygr
       61 vvlnrhnshd aldrkvnerd vpkatisrys sddtldrisd rndaaktyka ntldnqltnr
      121 smsmfrslev tklqpggsln antsntiast sattpvkkkr qswfpppppg ynassstgtr
      181 rrepgvhppi ppkpsspvss pnqlrqdnrq ihppkpgvyt etnrsaerni seeldnlikm
      241 nkslnrnqgl dslfranpkv eerekraksl esliymstrt dkdgkgiqsl gspikvnqrt
      301 dknekgrqnl esvakvnarm nktsrrsedl dnatevnpkg henttggqsl dnlikvtpev
      361 krsnqgskdl nnfikvypgt eksteggqsl dslikvtper nrtnqgnqdl enlikvipsa
      421 nksseqglde hinvspkavk ntdgkqdldk likvnpeift nnqrnqdlan likvnpavir
      481 nnqsqdldnl ikvkpsalrn tnrdqnlenl ievnshvsen kngssntgak qagpqdtvvy
      541 trtyvensks pkdgyqenis gkyiqtvyst sdrsvierdm ctycrkplgv etkmildelq
      601 icchstcfkc eickqplenl qagdsiwiyr qtihcepcys kimakwip
//
LOCUS       XP_011520389             820 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 33 isoform X11 [Homo
            sapiens].
ACCESSION   XP_011520389
VERSION     XP_011520389.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011522087.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..820
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..820
                     /product="coiled-coil domain-containing protein 33 isoform
                     X11"
                     /calculated_mol_wt=91671
     Region          37..132
                     /region_name="C2"
                     /note="C2 domain; cd00030"
                     /db_xref="CDD:175973"
     Region          <427..>573
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..820
                     /gene="CCDC33"
                     /gene_synonym="CT61; HP11097"
                     /coded_by="XM_011522087.2:263..2725"
                     /db_xref="GeneID:80125"
                     /db_xref="HGNC:HGNC:26552"
                     /db_xref="MIM:618525"
ORIGIN      
        1 mglknkknte dpeepliasq stepeighls pskketimvt lhgatnlpac kdgsepwpyv
       61 vvkstseekn nqsskavtsv tseptrapiw gdtvnveiqa edagqedvil kvvdnrkkqe
      121 llsykipiky lrvfhpyhfe lvkptesgka deataktqly atvvrkssfi pryigcnhma
      181 leiflrgvne plannpnpiv viarvvpnyk efkvsqanrd lasvglpitp lsfpipsmmn
      241 fdvprvsqng cpqlskpggp peqplwnqsf lfqgrdgats fsedtalvle yysstsmkgs
      301 qpwtlnqplg isvlplksrl yqkmltgkgl dglhverlpi mdtslktind eaptvalsfq
      361 llsserpenf ltpnnskalp tldpkildkk lrtiqeswsk dtvsstmdls tstpreaeee
      421 plvpemshdt emnnyrramq kmaedilslr rqasilegen rilrsrlaqq eeeegqgkas
      481 eaqntvsmkq klllseldmk klrdrvqhlq nelirkndre kellllyqaq qpqaallkqy
      541 qgklqkmkal eetvrhqekv iekmervled rlqdrskppp lnrqqgkpyt gfpmlsasgl
      601 plgsmgenlp velysvllae naklrteldk nrhqqapiil qqqalpvdpg elgaggdlte
      661 rlqethgpgh sectetlpaq dllsgtsdkf nllaklehaq srilslesql edsarrwgre
      721 kqdlatrlqe qekgfrhpsn siiieqppys lppapgasif gkpratvdpg gwreeafqsr
      781 gqgdgplpdp ekkqghqrpa llgntreacp fhlpqniyhv
//
LOCUS       XP_047289203            4874 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase HERC1 isoform X24 [Homo
            sapiens].
ACCESSION   XP_047289203
VERSION     XP_047289203.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433247.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4874
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..4874
                     /product="probable E3 ubiquitin-protein ligase HERC1
                     isoform X24"
                     /calculated_mol_wt=533385
     Region          374..731
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          2031..2188
                     /region_name="SPRY_HERC1"
                     /note="SPRY domain in HERC1; cd12881"
                     /db_xref="CDD:293939"
     Region          2744..2787
                     /region_name="UBA_HERC1"
                     /note="UBA domain found in probable E3 ubiquitin-protein
                     ligase HERC1 and similar proteins; cd14401"
                     /db_xref="CDD:270584"
     Region          3437..3788
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(3440,3458,3462,3468..3469,3496..3497,3519,
                     3525..3526,3538..3539,3564,3569,3575..3576,3594,3611,3616,
                     3637..3638,3656,3660,3666..3667,3680..3681,3705,3710,
                     3716..3717,3758..3759,3777,3781,3787..3788)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          3445..3488
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3502..3537
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3542..3589
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3598..3633
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3642..3678
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3685..3716
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          3763..3799
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          4011..4359
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          4486..4854
                     /region_name="HECTc"
                     /note="HECT domain; C-terminal catalytic domain of a
                     subclass of Ubiquitin-protein ligase (E3). It binds
                     specific ubiquitin-conjugating enzymes (E2), accepts
                     ubiquitin from E2, transfers ubiquitin to substrate lysine
                     side chains, and transfers additional...; cd00078"
                     /db_xref="CDD:238033"
     Site            order(4491,4532,4543,4610,4788,4818..4819,4822..4826,4846,
                     4853)
                     /site_type="active"
                     /note="catalytic cleft [active]"
                     /db_xref="CDD:238033"
     Site            order(4638,4641..4642,4644..4645,4648,4656,4658,
                     4662..4663,4665,4674,4679,4696,4700)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..4874
                     /gene="HERC1"
                     /gene_synonym="MDFPMR; p532; p619"
                     /coded_by="XM_047433247.1:149..14773"
                     /db_xref="GeneID:8925"
                     /db_xref="HGNC:HGNC:4867"
                     /db_xref="MIM:605109"
ORIGIN      
        1 matmippvkl kwlehlnssw itedsesiat regvavlysk lvsnkevvpl pqqvlclkgp
       61 qlpdferesl ssdeqdhyld allssqlala kmvcsdspfa galrkrllvl qrvfyalsnk
      121 yhdkgkvkqq qhspesssgs advhsvserp rsstdaliem gvrtglsllf allrqswmmp
      181 vsgpglslcn dvihtaievv sslpplslan eskippmgld clsqvttflk gvtipnsgad
      241 tlgrrlasel llglaaqrgs lryllewiem algasavvht mekgkllssq egmisfdcfm
      301 tilmqmrrsl gssadrsqwr eptrtsdglc slyeaalclf eevcrmasdy srtcaspdsi
      361 qtgdapivse tcevyvwgsn sshqlvegtq ekilqpklap sfsdaqtiea gqyctfvist
      421 dgsvracgkg sygrlglgds nnqstlkklt fephrsikkv ssskgsdght lafttegevf
      481 swgdgdygkl ghgnsstqky pkliqgplqg kvvvcvsagy rhsaavtedg elytwgegdf
      541 grlghgdsns rniptlvkdi snvgevscgs shtialskdg rtvwsfgggd ngklghgdtn
      601 rvykpkviea lqgmfirkvc agsqsslalt stgqvyawgc gaclgcgsse atalrpklie
      661 elaatrivdv sigdshclal shdnevyawg nnsmgqcgqg nstgpitkpk kvsgldgiai
      721 qqisagtshs lawtalprdr qvvawhrpyc vdleestfsh lrsflerycd kinseipplp
      781 fpssrehhsf lklclkllsn hlalalaggv atsilgrqag plrnllfrlm dstvpdeiqe
      841 vvietlsvga tmllpplrer mellhsllpq gpdrweslsk gqrmqldiil tslqdhthva
      901 sllgysspsd aadlssvctg ygnlsdqpyg tqschpdthl aeilmktllr nlgfytdqaf
      961 geleknsdkf llgtsssens qpahlhellc slqkqllafc hinnisenss svallhkhlq
     1021 lllphatdiy srsanllkes pwngsvgekl rdviyvsaag smlcqivnsl lllpvsvarp
     1081 llsylldllp pldclnrllp aadlledqel qwplhggpel idpaglplpq paqswvwlvd
     1141 lertiallig rclggmlqgs pvspeeqdta ywmktplfsd gvemdtpqld kcmsclleva
     1201 lsgneeqkpf dyklrpeiav yvdlalgcsk eparslwism qdyavskdwd satlsnesll
     1261 dtvsrfvlaa llkhtnllsq acgesryqpg khlsevyrcv ykvrsrllac knleliqtrs
     1321 ssrdrwisen qdsadvdpqe hsftrtidee aemeeqaerd reeghpeped eeeerehevm
     1381 tagkifqcfl sarevarsrd rdrmnsgags garaddpppq sqqerrvstd lpegqdvyta
     1441 acnsvihrca llilgvspvi delqkrreeg qlqqpstsas eggglmtrse sltaesrlvh
     1501 tspnyrliks rsesdlsqpe sdeegyalsg rrnvdldlaa shrkrgpmhs qleslsdswa
     1561 rlkhsrdwlc nssysfesdf dltkslgvht lienvvsfvs gdvgnapgfk epeesmstsp
     1621 qasiiameqq qlraelrlea lhqilvllsg meekgsisla gsrlssgfqs stlltsvrlq
     1681 flagcfglgt vghtggkges grlhhyqdgi raakrniqie iqvavhkiyq qlsatleral
     1741 qankhhieaq qrlllvtvfa lsvhyqpvdv slaistglln vlsqlcgtdt mlgqplqllp
     1801 ktgvsqlsta lkvastrllq ilaittgtya dklspkvvqs lldllcsqlk nllsqtgvlh
     1861 masfgegeqe dgeeeekkvd ssgetekkdf raalrkqhaa elhlgdflvf lrrvvsskai
     1921 qskmaspkwt evllniasqk cssgiplvgn lrtrllalhv leavlpaces gveddqmaqi
     1981 verlfsllsd cmwetpiaqa khaiqikeke qeiklqqgel eeedenlpiq evsfdpekaq
     2041 cclvengqil thgsggkgyg lastgvtsgc yqwkfyivke nrgnegtcvg vsrwpvhdfn
     2101 hrttsdmwly raysgnlyhn geqtltlssf tqgdfitcvl dmeartisfg kngeepklaf
     2161 edvdaaelyp cvmfyssnpg ekvkicdmqm rgtprdllpg dpicspvaav laeatiqlir
     2221 ilhrtdrwty cinkkmmerl hkikicikes gqklkksrsv qsreenemre ekeskeeekg
     2281 khtrhgladl selqlrtlci evwpvlavig gvdaglrvgg rcvhkqtgrh atllgvvkeg
     2341 stsakvqwde aeitisdtpl ynlepceplp fdvarfrglt asvlldltyl tgvhedmgkq
     2401 stkrhekkhr heseekgdve qkpesesald mrtgltsddv ksqsttssks eneiasfsld
     2461 ptlpsvesqh qitegkrknh ehmsknhdva qseiravqls ylylgamksl sallgcskya
     2521 elllipkvla enghnsdcas spvvhedvem raalqflmrh mvkravmrsp ikralgladl
     2581 eraqamiykl vvhglledqf ggkikqeidq qaeesdpaqq aqtpvttsps assttsfmss
     2641 sledtttatt pvtdtetvpa sespgvmpls llrqmfssyp tttvlptrra qtppisslpt
     2701 spsdevgrrq sltspdsqsa rpanrtalsd pssrlstspp ppaiavplle mgfslrqiak
     2761 ameatgarge adaqnitvla mwmiehpghe deeepqsgst adsrpgaavl gsggksndpc
     2821 ylqspgdips adaaemeegf sespdnldht enaasgsgps argrsavtrr hkfdlaartl
     2881 laraaglyrs vqahrnqsrr egislqqdpg alydfnldee leidlddeam eamfgqdlts
     2941 dndilgmwip evldwptwhv cesedreevv vcelcecsvv sfnqhmkrnh pgcgrsanrq
     3001 gyrsngsyvd gwfggecgsg npyyllcgtc rekylamktk skstsseryk gqapdligkq
     3061 dsvyeedwdm ldvdedeklt geeefellag plglndrriv pepvqfpdsd plgasvamvt
     3121 atnsmeetlm qielcfsgch gsveksssgr itlgeqaaal anphdrvval rrvtaaaqvl
     3181 lartmvmral sllsvsgssc slaagleslg ltdirtlvrl mclaaagrag lstspsamas
     3241 tsersrgghs kankpiscla ylstavgcla snapsaakll vqlctqnlis aatgvnlttv
     3301 ddsiqrkflp sflrgiaeen klvtspnfvv tqalvallad kgaklrpnyd ksevekkgli
     3361 aqlyahpsyd psavgplela nalaacclss rlssqhrqwa aqqlvrtlaa hdrdnqttlq
     3421 tladmggdlr kcsfikleah qnrvmtcvwc nkkgllatsg ndgtirvwnv tkkqyslqqt
     3481 cvfnrlegda eeslgspsdp sfspvswsis gkylagalek mvniwqvngg kglvdiqphw
     3541 vsalawpeeg patawsgesp elllvgrmdg slglievvdv stmhrreleh cyrkdvsvtc
     3601 iawfsedrpf avgyfdgkll lgtkeplekg givlidahkd tlismkwdpt ghilmtcake
     3661 dsvklwgsis gcwcclhslc hpsivngiaw crlpgkgskl qllmatgcqs glvcvwripq
     3721 dttqtnvtsa egwweqesnc qdgyrkssga kcvyqlrghi tpvrtvafss dglalvsggl
     3781 gglmniwslr dgsvlqtvvi gsgaiqttvw ipevgvaacs nrskdvlvvn ctaewaaanh
     3841 vlatcrtalk qqgvlglnma pcmraflerl pmmlqeqyay ekphvvcgdq lvhspymqcl
     3901 aslavglhld qllcnppvpp hhqnclpdpa swnpnewawl ecfsttikaa ealtngaqfp
     3961 esftvpdlep vpedelvflm dnskwingmd eqimswatsr pedwhlggkc dvylwgagrh
     4021 gqlaeagrnv mvpaaapsfs qaqqvicgqn ctfviqangt vlacgegsyg rlgqgnsddl
     4081 hvltvisalq gfvvtqlvts cgsdghsmal tesgevfswg dgdygklghg nsdrqrrprq
     4141 iealqgeevv qmscgfkhsa vvtsdgklft fgngdygrlg lgntsnkklp ervtalegyq
     4201 igqvacglnh tlavsadgsm vwafgdgdyg klglgnstak sspqkidvlc gigikkvacg
     4261 tqfsvaltkd ghvytfgqdr liglpegrar nhnrpqqipv lagviiedva vgaehtlala
     4321 sngdvyawgs nsegqlglgh tnhvreptlv tglqgknvrq isagrchsaa wtappvppra
     4381 pgvsvplqlg lpdtvppqyg alrevsihtv rarlrllyhf sdlmysswrl lnlspnnqns
     4441 tshynagtwg ivqgqlrpll aprvytlpmv rsigktmvqg knygpqitvk ristrgrkck
     4501 pifvqiarqv vklnasdlrl psrawkvklv gegaddaggv fddtitemcq eletgivdll
     4561 ipspnataev gynrdrflfn psacldehlm qfkflgilmg vairtkkpld lhlaplvwkq
     4621 lccvpltled leevdllyvq tlnsilhied sgiteesfhe mipldsfvgq sadgkmvpii
     4681 pggnsipltf snrkeyvera ieyrlhemdr qvaavregms wivpvpllsl ltakqleqmv
     4741 cgmpeisvev lkkvvryrev deqhqlvqwf whtleefsne ervlfmrfvs grsrlpanta
     4801 disqrfqimk vdrpydslpt sqtcffqlrl ppyssqlvma erlryainnc rsidmdnyml
     4861 srnvdnaegs dtdy
//
LOCUS       XP_047289935             129 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein C16orf54 isoform X3 [Homo sapiens].
ACCESSION   XP_047289935
VERSION     XP_047289935.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433979.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..129
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..129
                     /product="transmembrane protein C16orf54 isoform X3"
                     /calculated_mol_wt=14400
     Region          20..>113
                     /region_name="DUF4689"
                     /note="Domain of unknown function (DUF4689); pfam15755"
                     /db_xref="CDD:406240"
     CDS             1..129
                     /gene="C16orf54"
                     /coded_by="XM_047433979.1:141..530"
                     /db_xref="GeneID:283897"
                     /db_xref="HGNC:HGNC:26649"
ORIGIN      
        1 mgilerpgep grrawlcpem pltpeppsgr vegppaweaa pwpslpcgpc ipimlvlatl
       61 aalfilttav laerlfrral rpdpshrapt lvwrpggelw iepmgtarer sedcvyrshq
      121 yqrervlrc
//
LOCUS       XP_047291043             588 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 3G isoform X4 [Homo sapiens].
ACCESSION   XP_047291043
VERSION     XP_047291043.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435087.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..588
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..588
                     /product="TBC1 domain family member 3G isoform X4"
                     /calculated_mol_wt=66077
     Region          160..351
                     /region_name="TBC"
                     /note="Domain in Tre-2, BUB2p, and Cdc16p. Probable
                     Rab-GAPs; smart00164"
                     /db_xref="CDD:214540"
     Region          369..>475
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..588
                     /gene="TBC1D3G"
                     /gene_synonym="TBC1D3C; TBC1D3D"
                     /coded_by="XM_047435087.1:3653..5419"
                     /db_xref="GeneID:101060321"
                     /db_xref="HGNC:HGNC:29860"
                     /db_xref="MIM:610810"
ORIGIN      
        1 mdvvevagsw waqerediim kyekghragl pedkgpkpfr synnnvdhlg ivqscpswes
       61 apqegpcppf pvpspglspe lerdraspfw gsaprlgplq apcsssalpg lpysetelpp
      121 ltareakqir reisrkskwv dmlgdwekyk ssrklidray kgmpmnirgp mwsvllniee
      181 mklknpgryq imkekgkrss ehiqridrdi sgtlrkhmff rdrygtkqre llhillayee
      241 ynpevgycrd lshiaalfll ylpeedafwa lvqllaserh slqgfhspng gtvqglqdqq
      301 ehvvatsqpk tmghqislgl tlrlwdvylv egeqalmpit riafkvqqkr ltktsrcgpw
      361 arfcnrfvdt wardedtvlk hlrasmkklt rkqgdlpppa kpeqgssasr pvpasrggkt
      421 lckgdrqapp gpparfprpi wsaspprapr sstpcpggav redtypvgtq gvpspalaqg
      481 gpqgswrflq wnsmprlptd ldvegpwfrh ydfrqscwvr aisqedqlap cwqaehpaer
      541 vrsafaapst dsdqgtpfra rdeqqcapts gpclcglhle ssqfppgf
//
LOCUS       XP_011521917             315 aa            linear   PRI 20-MAR-2023
DEFINITION  C-type lectin domain family 10 member A isoform X2 [Homo sapiens].
ACCESSION   XP_011521917
VERSION     XP_011521917.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523615.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..315
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..315
                     /product="C-type lectin domain family 10 member A isoform
                     X2"
                     /calculated_mol_wt=35142
     Region          5..170
                     /region_name="Lectin_N"
                     /note="Hepatic lectin, N-terminal domain; pfam03954"
                     /db_xref="CDD:427612"
     Region          184..304
                     /region_name="CLECT_DC-SIGN_like"
                     /note="C-type lectin-like domain (CTLD) of the type found
                     in human dendritic cell (DC)-specific intercellular
                     adhesion molecule 3-grabbing non-integrin (DC-SIGN) and
                     the related receptor, DC-SIGN receptor (DC-SIGNR);
                     cd03590"
                     /db_xref="CDD:153060"
     Site            order(235,266,268,279,285,291..294)
                     /site_type="other"
                     /note="carbohydrate binding site"
                     /db_xref="CDD:153060"
     Site            order(242,244,269,279..280)
                     /site_type="other"
                     /note="calcium binding site 1 [ion binding]"
                     /db_xref="CDD:153060"
     Site            order(244,280)
                     /site_type="other"
                     /note="calcium binding site 3 [ion binding]"
                     /db_xref="CDD:153060"
     CDS             1..315
                     /gene="CLEC10A"
                     /gene_synonym="CD301; CLECSF13; CLECSF14; HML; HML2; MGL"
                     /coded_by="XM_011523615.2:274..1221"
                     /db_xref="GeneID:10462"
                     /db_xref="HGNC:HGNC:16916"
                     /db_xref="MIM:605999"
ORIGIN      
        1 mtrtyenfqy lenkvkvqgf kngplplqsl lqrlcsgpch lllslglgll llviicvvgf
       61 qnskfqrdlv tlrtdfsnft sntvaeiqal tsqgssleet iaslkaeveg fkqerqagvs
      121 elqehttqka hlghcphcps vcvpvhseml lrvqqlvqdl kkltcqvatl nnngeeaste
      181 gtccpvnwve hqdscywfsh sgmswaeaek ycqlknahlv vinsreeqky lgsaytwmgl
      241 sdpegawkwv dgtdyatgfq nwkpgqpddw qghglggged cahfhpdgrw nddvcqrpyh
      301 wvceaglgqt sqesh
//
LOCUS       XP_005257133             287 aa            linear   PRI 20-MAR-2023
DEFINITION  CMRF35-like molecule 9 isoform X5 [Homo sapiens].
ACCESSION   XP_005257133
VERSION     XP_005257133.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005257076.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..287
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..287
                     /product="CMRF35-like molecule 9 isoform X5"
                     /calculated_mol_wt=31522
     Region          19..113
                     /region_name="IgV_pIgR_like"
                     /note="Immunoglobulin (Ig)-like domain in the polymeric Ig
                     receptor (pIgR) and similar proteins; cd05716"
                     /db_xref="CDD:409381"
     Region          19..37
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409381"
     Region          19..21
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409381"
     Region          24..29
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409381"
     Region          31..38
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409381"
     Region          38..46
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409381"
     Region          46..51
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409381"
     Site            46..48
                     /site_type="other"
                     /note="CDR1-dIgA binding residues [polypeptide binding]"
                     /db_xref="CDD:409381"
     Region          47..51
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409381"
     Region          52..72
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409381"
     Region          62..66
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409381"
     Region          70..72
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409381"
     Region          78..109
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409381"
     Region          78..84
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409381"
     Region          88..96
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409381"
     Region          102..109
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409381"
     CDS             1..287
                     /gene="CD300LG"
                     /gene_synonym="CLM-9; CLM9; NEPMUCIN; TREM-4; TREM4"
                     /coded_by="XM_005257076.4:42..905"
                     /db_xref="GeneID:146894"
                     /db_xref="HGNC:HGNC:30455"
                     /db_xref="MIM:610520"
ORIGIN      
        1 mrllvllwgc lllpgyeale gpeeisgfeg dtvslqctyr eelrdhrkyw crkggilfsr
       61 csgtiyaeee gqetmkgrvs irdsrqelsl ivtlwnltlq dageywcgve krgpdeslli
      121 slfvfpgssr ppmqldstsa edtspalssg sskprvsipm vrilapvlvl lsllsaagli
      181 afcshlllwr keaqqatetq rnekfclsrl plgngrdped avinlagpmg sltipepsps
      241 lyteiqylsq taeekeapsq apegdvismp plhtseeelg fskfvsa
//
LOCUS       XP_047292663             301 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane and ubiquitin-like domain-containing protein 2
            isoform X4 [Homo sapiens].
ACCESSION   XP_047292663
VERSION     XP_047292663.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436707.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..301
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..301
                     /product="transmembrane and ubiquitin-like
                     domain-containing protein 2 isoform X4"
                     /calculated_mol_wt=31476
     Region          153..223
                     /region_name="Ubl_TMUB2"
                     /note="ubiquitin-like (Ubl) domain found in transmembrane
                     and ubiquitin-like domain-containing protein 2 (TMUB2);
                     cd17132"
                     /db_xref="CDD:340652"
     CDS             1..301
                     /gene="TMUB2"
                     /gene_synonym="FP2653"
                     /coded_by="XM_047436707.1:513..1418"
                     /db_xref="GeneID:79089"
                     /db_xref="HGNC:HGNC:28459"
ORIGIN      
        1 melsdvtlie gvgnevmvva gvvvlilalv lawlstyvad sgsnqllgai vsagdtsvlh
       61 lghvdhlvag qgnpeptelp hpsegndeka eeagegrgds tgeagagggv epslehlldi
      121 qglpkrqaga gssspeaplr sedstclpps pglitvrlkf lndteelava rpedtvgalk
      181 skyfpgqesq mkliyqgrll qdpartlrsl nitdncvihc hrsppgsavp gpsaslapsa
      241 teppslgvnv gslmvpvfvv llgvvwyfri nyrqfftapa tvslvgvtvf fsflvfgmyg
      301 r
//
LOCUS       XP_005259271             292 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein OZF isoform X1 [Homo sapiens].
ACCESSION   XP_005259271
VERSION     XP_005259271.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005259214.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..292
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..292
                     /product="zinc finger protein OZF isoform X1"
                     /calculated_mol_wt=33177
     Region          <1..260
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          18..38
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(18,21,34,38)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          46..66
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(46,49,62,66)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          74..94
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(74,77,90,94)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(79,81,83,85..86,89..90,93,107,109,113..114,117..118,
                     121,135,137,139,141..142,145..146,149)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          102..122
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          130..150
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          158..178
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(158,161,174,178)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          186..206
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(186,189,202,206)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          214..234
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(214,217,230,234)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(219,221,223,225..226,229..230,233,247,249,253..254,
                     257..258,261,275,277,279,281..282,285..286,289)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          242..262
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          255..279
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          270..290
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..292
                     /gene="ZNF146"
                     /gene_synonym="OZF"
                     /coded_by="XM_005259214.4:979..1857"
                     /db_xref="GeneID:7705"
                     /db_xref="HGNC:HGNC:12931"
                     /db_xref="MIM:601505"
ORIGIN      
        1 mshlsqqriy sgenpfackv cgkvfshksn ltehehfhtr ekpfecnecg kafsqkqyvi
       61 khqnthtgek lfecnecgks fsqkenllth qkihtgekpf eckdcgkafi qksnlirhqr
      121 thtgekpfvc kecgktfsgk snltehekih igekpfkcse cgtafgqkky likhqnihtg
      181 ekpyecnecg kafsqrtsli vhvrihsgdk pyecnvcgka fsqsssltvh vrshtgekpy
      241 gcnecgkafs qfstlalhlr ihtgkkpyqc secgkafsqk shhirhqkih th
//
LOCUS       XP_047300002            2242 aa            linear   PRI 20-MAR-2023
DEFINITION  bromodomain adjacent to zinc finger domain protein 2B isoform X3
            [Homo sapiens].
ACCESSION   XP_047300002
VERSION     XP_047300002.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444046.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..2242
                     /product="bromodomain adjacent to zinc finger domain
                     protein 2B isoform X3"
                     /calculated_mol_wt=248236
     Region          744..816
                     /region_name="HAT_MBD"
                     /note="Methyl-CpG binding domains (MBD) present in
                     putative chromatin remodelling factor such as BAZ2A; BAZ2A
                     contains a MBD, DDT, PHD-type zinc finger and Bromo domain
                     suggesting that BAZ2A might be associated with histone
                     acetyltransferase (HAT) activity. The...; cd01397"
                     /db_xref="CDD:238691"
     Site            order(756,758,760,767,769,778,781,785)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238691"
     Region          897..>1072
                     /region_name="TPH"
                     /note="Trichohyalin-plectin-homology domain; pfam13868"
                     /db_xref="CDD:433539"
     Region          1100..1162
                     /region_name="DDT"
                     /note="domain in different transcription and chromosome
                     remodeling factors; smart00571"
                     /db_xref="CDD:214726"
     Region          1383..>1415
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          <1723..1762
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          1978..2026
                     /region_name="PHD_BAZ2B"
                     /note="PHD finger found in bromodomain adjacent to zinc
                     finger domain protein 2B (BAZ2B); cd15630"
                     /db_xref="CDD:277100"
     Site            order(1986,1992..1996,2014..2017)
                     /site_type="other"
                     /note="H3 histone binding site [polypeptide binding]"
                     /db_xref="CDD:277100"
     Region          2111..2207
                     /region_name="Bromo_BAZ2A_B_like"
                     /note="Bromodomain, BAZ2A/BAZ2B_like subfamily. Bromo
                     adjacent to zinc finger 2A (BAZ2A) and 2B (BAZ2B) were
                     identified as a novel human bromodomain gene by cDNA
                     library screening. BAZ2A is also known as Tip5
                     (Transcription termination factor I-interacting...;
                     cd05503"
                     /db_xref="CDD:99935"
     Site            order(2135,2140,2143,2182,2186,2192)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99935"
     CDS             1..2242
                     /gene="BAZ2B"
                     /gene_synonym="WALp4"
                     /coded_by="XM_047444046.1:852..7580"
                     /db_xref="GeneID:29994"
                     /db_xref="HGNC:HGNC:963"
                     /db_xref="MIM:605683"
ORIGIN      
        1 mesgerlpss aassttptss stpsvasvvs kgglstgvas lsstinpcgh lfrtagdqpf
       61 nlstvssafp mvshpvfglh sassghsefg glgtlgtpta laahpqlasf pgaewwrttd
      121 ahtrtgatff ppllgipplf appaqnhdss sfhsrtsgks nrngpekgvn gsingsntss
      181 vigintsvls ttasssmgqt kstssgggnr kcnqeqsknq pldarvdkik dkkprkkame
      241 sssnsdsdsg tssdtssegi sssdsddlee deeeedqsie esedddsdse seaqhksnnq
      301 vllhgisdpk adgqkateka qekrihqplp lasesqthsf qsqqkqpqvl sqqlpfifqs
      361 sqakeesvnk htsviqstgl vsnvkplslv nqakketymk livpspdvlk agnkntsees
      421 slltselrsk reqykqafps qlkkqessks lkkviaalsn pkatssspah pkqtlennhp
      481 npfltnallg nhqpngviqs viqeaplalt tktkmqskin eniaaasstp fsspvnlsts
      541 grrtpgnqtp vmpsaspilh sqgkekavsn nvnpvktqhh shpakslveq frgtdsdips
      601 skdsedsned eeeddeeede eddeddesdd sqsesdsnse sdtegseeed dddkdqdesd
      661 sdtegektsm klnkttssvk spsmsltghs tprnlhiaka pgsapaalcs esqspaflgt
      721 ssstltssph sgtskrrrvt derelriple ygwqretrir nfggrlqgev ayyapcgkkl
      781 rqypevikyl srngimdisr dnfsfsakir vgdfyeardg pqgmqwcllk eedviprira
      841 megrrgrppn pdrqrarees rmrrrkgrpp nvgnaefldn adakllrklq aqeiarqaaq
      901 ikllrklqkq eqarvakeak kqqaimaaee krkqkeqiki mkqqekikri qqirmekelr
      961 aqqileakkk kkeeaanakl leaekrikek emrrqqavll khqelerhrl dmvwererrr
     1021 qhmmlmkame arkkaeeker lkqekrdekr lnkerkleqr rlelemakel kkpnedmcla
     1081 dqkplpelpr ipglvlsgst fsdclmvvqf lrnfgkvlgf dvnidvpnls vlqegllnig
     1141 dsmgevqdll vrllsaavcd pglitgykak talgehllnv gvnrdnvsei lqifmeahcg
     1201 qtelteslkt kafqahtpaq kasvlaflin elacsksvvs eidknidyms nlrrdkwvve
     1261 gklrklriih akktgkrdts ggidlgeeqh plgtptpgrk rrrkggdsdy dddddddsdd
     1321 qgdeddedee dkedkkgkkt dicededegd qaasveelek qieklskqqs qyrrklfdas
     1381 hslrsvmfgq dryrrrywil pqcggifveg mesgegleei akereklkka esvqikeemf
     1441 etsgdslncs ntdhceqked lkekdntnlf lqkpgsfskl skllevakmp pesevmtpkp
     1501 nagangctls yqnsgkhslg svqstatqsn vekadsnnlf ntgssgpgkf ysplpndqll
     1561 ktlteknrqw fsllprtpcd dtslthadms taslvtpqsq ppskspsptp aplgssaqnp
     1621 vglnpfalsp lqvkggvsmm glqfcgwptg vvtsnipfts svpslgsglg lsegngnsfl
     1681 tsnvasskse spvpqnekat saqpaaveva kpvdfpspkp ipeemqfgww riidpedlka
     1741 llkvlhlrgi rekalqkqiq khldyitqac lknkdvaiie lneneenqvt rdivenwsve
     1801 eqamemdlsv lqqvedlerr vasaslqvkg wmcpepaser edlvyfehks ftklckehdg
     1861 eftgedessa halerksdnp ldiavtrlad lernierryl ksplsttiqi kldnvgtvtv
     1921 papapsvsgd gdgieediap glrvwrrals earsaaqval ciqqlqksia weksimkvyc
     1981 qicrkgdnee llllcdgcdk gchtychrpk ittipdgdwf cpaciakasg qtlkikklhv
     2041 kgkktneskk gkkvtltgdt ededsastss slkrgnkdlk krkmeentsi nlskqesfts
     2101 vkkpkrddsk dlalcsmilt emethedawp fllpvnlklv pgykkvikkp mdfstirekl
     2161 ssgqypnlet faldvrlvfd ncetfnedds digraghnmr kyfekkwtdt fkplcyedal
     2221 aaqpygaans yhqltspvpe as
//
LOCUS       XP_016859845             161 aa            linear   PRI 20-MAR-2023
DEFINITION  peptidyl-prolyl cis-trans isomerase-like 3 isoform X2 [Homo
            sapiens].
ACCESSION   XP_016859845
VERSION     XP_016859845.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004356.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..161
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..161
                     /product="peptidyl-prolyl cis-trans isomerase-like 3
                     isoform X2"
                     /calculated_mol_wt=18023
     Region          1..154
                     /region_name="Cyclophilin_PPIL3_like"
                     /note="Proteins similar to Human cyclophilin-like
                     peptidylprolyl cis- trans isomerase (PPIL3). Members of
                     this family lack a key residue important for cyclosporin
                     binding: the tryptophan residue corresponding to W121 in
                     human hCyP-18a; most members have a...; cd01928"
                     /db_xref="CDD:238909"
     Site            order(43..44,49,100,102,110)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238909"
     CDS             1..161
                     /gene="PPIL3"
                     /gene_synonym="CYPJ"
                     /coded_by="XM_017004356.3:539..1024"
                     /db_xref="GeneID:53938"
                     /db_xref="HGNC:HGNC:9262"
                     /db_xref="MIM:615811"
ORIGIN      
        1 msvtlhtdvg dikievfcer tpktcenfla lcasnyyngc ifhrnikgfm vqtgdptgtg
       61 rggnsiwgkk fedeyseylk hnvrgvvsma nngpntngsq ffitygkqph ldmkytvfgk
      121 vidgletlde leklpvnekt yrplndvhik ditihanpfa q
//
LOCUS       XP_047300859             541 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-coenzyme A oxidase-like protein isoform X8 [Homo sapiens].
ACCESSION   XP_047300859
VERSION     XP_047300859.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444903.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..541
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..541
                     /product="acyl-coenzyme A oxidase-like protein isoform X8"
                     /calculated_mol_wt=60867
     Region          2..506
                     /region_name="ACAD"
                     /note="Acyl-CoA dehydrogenase; cl09933"
                     /db_xref="CDD:447864"
     CDS             1..541
                     /gene="ACOXL"
                     /gene_synonym="ACOX4"
                     /coded_by="XM_047444903.1:225..1850"
                     /db_xref="GeneID:55289"
                     /db_xref="HGNC:HGNC:25621"
ORIGIN      
        1 mraltvqrvk famdlpllkr agqdlaektk nfvsrslvig evlsmadmat gvkcgiiywl
       61 fggairnlgs pehvtkwfqp lqeqkytgmf amterghgsn argiqteatf dlsaqefvid
      121 tpcenaekmy ignamygnya avfaqliidg rsqgphcfiv pvrdengsly pgvtaidmmy
      181 keglhgvdng ilifdkvrip renlldkfgs vapdgqyhsp irnksarfna mlaaltpsrl
      241 avafqamgam klgltiairy shryagalld edvfqgkelv nsrslqalva glkaystwen
      301 irclqdcrec tggmvvgrel laqytkqyee kplfgllqnw aesvgdklrt sflafnmdtv
      361 ddlafllkav kfrervlqrg lvariyykvk tkkedffhaw nsclhhvasl slahthrvtl
      421 eqfslavksc pdqedqtllm kfcllygtkl vfqerawyle hkyltpmast rirnqlldlc
      481 dsvkddarrv istfniphty lhapiagisn praawafypa plqprpreea rsrrpklgak
      541 l
//
LOCUS       XP_005264044             876 aa            linear   PRI 20-MAR-2023
DEFINITION  KAT8 regulatory NSL complex subunit 3 isoform X10 [Homo sapiens].
ACCESSION   XP_005264044
VERSION     XP_005264044.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005263987.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..876
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..876
                     /product="KAT8 regulatory NSL complex subunit 3 isoform
                     X10"
                     /calculated_mol_wt=92897
     CDS             1..876
                     /gene="KANSL3"
                     /gene_synonym="KIAA1310; NSL3; Rcd1"
                     /coded_by="XM_005263987.2:81..2711"
                     /db_xref="GeneID:55683"
                     /db_xref="HGNC:HGNC:25473"
                     /db_xref="MIM:617742"
ORIGIN      
        1 mahrggerdf qtsarrmgts llfqlsvher eldlvfldhs yakpwsahpd assarptrml
       61 fvtprrqhes tiesdvpidv etvtstpmpl ydnqkarsvm necerhvifa rtdadapppp
      121 edweehvnrt gwtmaqnklf nkilkalqsd rlarlanega cnepvlrrva vdkcarrvrq
      181 alasvswdtk liqwlhttlv etlslpmlaa yldalqtlkg kiptlidrml vssntktgaa
      241 gaealslllk rpwdpavgvl shnkpsklpg spliliassg psssvfptsr rhrfwqsqls
      301 clgkvipvat hllnngsgvg vlqclehmig avrskvleih shfphkpiil igwntgalva
      361 chvsvmeyvt avvclgfpll tvdgprgdvd dplldmktpv lfvigqnslq chpeamedfr
      421 ekiraenslv vvggaddnlr iskakkkseg ltqsmvdrci qdeivdfltg vltraeghmg
      481 seprdqdaek kkkprdvarr dlafevperg srpaspaakl paspsgsedl ssvsssptss
      541 pktkvttvts aqkssqigss qllkrhvqrt eavlthkqaq vpisseppee gekedlrvql
      601 krhhpssplp gsktskrpki kvslisqgdt aggpcapsqg sapeggkpit mtlgqasaga
      661 keltglltta ksssseggvs aspvpsvvss stapsalhtl qsrlvatspg sslpgatsas
      721 sllqglsfsl qdissktsgl panpspgpap qatsvklptp mqslgaittg tstivrtipv
      781 attlsslgat pggkptaihq lltngglakl asslpglaqi snqasglkvp ttitltlrgq
      841 psrittlspm gsgaapsees ssqvlpsssq rlppap
//
LOCUS       XP_047296182             557 aa            linear   PRI 20-MAR-2023
DEFINITION  uridine-cytidine kinase-like 1 isoform X4 [Homo sapiens].
ACCESSION   XP_047296182
VERSION     XP_047296182.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440226.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..557
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..557
                     /product="uridine-cytidine kinase-like 1 isoform X4"
                     /calculated_mol_wt=62223
     Region          100..306
                     /region_name="UMPK"
                     /note="Uridine monophosphate kinase (UMPK, EC 2.7.1.48),
                     also known as uridine kinase or uridine-cytidine kinase
                     (UCK), catalyzes the reversible phosphoryl transfer from
                     ATP to uridine or cytidine to yield UMP or CMP. In the
                     primidine nucleotide-salvage pathway; cd02023"
                     /db_xref="CDD:238981"
     Site            order(111,243,291)
                     /site_type="other"
                     /note="ATP-binding site [chemical binding]"
                     /db_xref="CDD:238981"
     Site            order(132,164,244)
                     /site_type="active"
                     /note="Sugar specificity [active]"
                     /db_xref="CDD:238981"
     Site            order(135,161,190,192,195,252)
                     /site_type="active"
                     /note="Pyrimidine base specificity [active]"
                     /db_xref="CDD:238981"
     Region          338..541
                     /region_name="UPRTase"
                     /note="Uracil phosphoribosyltransferase; pfam14681"
                     /db_xref="CDD:434124"
     Site            order(409,411,462..464,466..470,496)
                     /site_type="active"
                     /db_xref="CDD:206754"
     CDS             1..557
                     /gene="UCKL1"
                     /gene_synonym="UCK1L; URKL1"
                     /coded_by="XM_047440226.1:45..1718"
                     /db_xref="GeneID:54963"
                     /db_xref="HGNC:HGNC:15938"
                     /db_xref="MIM:610866"
ORIGIN      
        1 maapparada dpsptsppta rdtpgrqaek setacedrna esldrllppv gtgrsprkrt
       61 tsqckseppl lrtskrtiyt agrppwyneh gtqskeafai glgggsasgk ttvarmiiea
      121 ldvpwvvlls mdsfykllhs lphqvlteqq qeqaahnnfn fdhpdafdfd liistlkklk
      181 qgksvkvpiy dftthsrkkd wktlyganvi ifegimafad ktllelldmk ifvdtdsdir
      241 lvrrlrrdis ergrdiegvi kqynkfvkps fdqyiqptmr ladivvprgs gntvaidliv
      301 qhvhsqleeq rklrwdmaal asahqchplp rtlsvlkstp qvrgmhtiir dketsrdefi
      361 fyskrlmrll iehalsflpf qdcvvqtpqg qdyagkcyag kqitgvsilr agetmepalr
      421 avckdvrigt iliqtnqltg epelhylrlp kdisddhvil mdctvstgaa ammavrvlld
      481 hdvpedkifl lsllmaemgv hsvayafprv riittavdkr vndlfriipg ignfgdryfg
      541 tdavpdgsde eevaytg
//
LOCUS       XP_047296630             348 aa            linear   PRI 20-MAR-2023
DEFINITION  heat shock factor 2-binding protein isoform X1 [Homo sapiens].
ACCESSION   XP_047296630
VERSION     XP_047296630.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440674.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..348
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..348
                     /product="heat shock factor 2-binding protein isoform X1"
                     /calculated_mol_wt=39127
     Region          17..>118
                     /region_name="PRK12704"
                     /note="phosphodiesterase; Provisional"
                     /db_xref="CDD:237177"
     CDS             1..348
                     /gene="HSF2BP"
                     /gene_synonym="MEILB2; POF19"
                     /coded_by="XM_047440674.1:1393..2439"
                     /db_xref="GeneID:11077"
                     /db_xref="HGNC:HGNC:5226"
                     /db_xref="MIM:604554"
ORIGIN      
        1 mgeagaaeea crhmgtkeef vkvrkkdler lttevmqird flprilngev lesfqklkiv
       61 eknlerkeqe leqlkmdceh fkarletvqa dnirekkekl alrqqlneak qqllqqaeyc
      121 temgaaactl lwgvssseev vkailggvsm dkalkffsit gqtmesfvks ldgdvqelds
      181 desqfvfala givtnvaaia cgreflvnss rvlldtilql lgdlkpgqct klkvlmlmsl
      241 ynvsinlkgl kyisespgfi pllwwllsdp daevclhvlr lvqsvvlepe vfsksasefr
      301 sslplqrila msksrnprlq taaqelledl rtlehnvlps frylftlg
//
LOCUS       XP_047297139             291 aa            linear   PRI 20-MAR-2023
DEFINITION  NADH-cytochrome b5 reductase 3 isoform X1 [Homo sapiens].
ACCESSION   XP_047297139
VERSION     XP_047297139.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441183.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..291
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..291
                     /product="NADH-cytochrome b5 reductase 3 isoform X1"
                     /calculated_mol_wt=33108
     Region          <28..291
                     /region_name="PLN02252"
                     /note="nitrate reductase [NADPH]"
                     /db_xref="CDD:215141"
     CDS             1..291
                     /gene="CYB5R3"
                     /gene_synonym="B5R; DIA1"
                     /coded_by="XM_047441183.1:180..1055"
                     /db_xref="GeneID:1727"
                     /db_xref="HGNC:HGNC:2873"
                     /db_xref="MIM:613213"
ORIGIN      
        1 mvlfpvwfly sllmklfqrs tpaitlespd ikyplrlidr eiishdtrrf rfalpspqhi
       61 lglpvgqhiy lsaridgnlv vrpytpissd ddkgfvdlvi kvyfkdthpk fpaggkmsqy
      121 lesmqigdti efrgpsgllv yqgkgkfair pdkksnpiir tvksvgmiag gtgitpmlqv
      181 iraimkdpdd htvchllfan qtekdillrp eleelrnkhs arfklwytld rapeawdygq
      241 gfvneemird hlpppeeepl vlmcgpppmi qyaclpnldh vghptercfv f
//
LOCUS       XP_011528483             656 aa            linear   PRI 20-MAR-2023
DEFINITION  splicing regulator ARVCF isoform X14 [Homo sapiens].
ACCESSION   XP_011528483
VERSION     XP_011528483.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011530181.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..656
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..656
                     /product="splicing regulator ARVCF isoform X14"
                     /calculated_mol_wt=70825
     Region          <309..487
                     /region_name="HEAT"
                     /note="HEAT repeat [General function prediction only];
                     COG1413"
                     /db_xref="CDD:224331"
     Region          360..385
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Site            order(376,380,384,418,422,426,461,466,470)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          389..428
                     /region_name="Arm"
                     /note="Armadillo/beta-catenin-like repeat; pfam00514"
                     /db_xref="CDD:425727"
     Region          393..429
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          432..473
                     /region_name="ARM"
                     /note="Armadillo/beta-catenin-like repeats; smart00185"
                     /db_xref="CDD:214547"
     Region          436..471
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          478..529
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     CDS             1..656
                     /gene="ARVCF"
                     /coded_by="XM_011530181.2:308..2278"
                     /db_xref="GeneID:421"
                     /db_xref="HGNC:HGNC:728"
                     /db_xref="MIM:602269"
ORIGIN      
        1 medcnvhsaa silasvkeqe arferltral eqerrhvalq leraqqpgmv sggmgsgqpl
       61 pmawqqlvlq eqspgsqasl atmpeapdvl eetvtveedp gtptshvsiv tsedgttrrt
      121 etkvtktvkt vttrtvrqvp vgpdglplld ggpplgpfad galdrhfllr gggpvatlsr
      181 aylssgggfp egpeprdsps ygslsrglgm rppragplgp gpgdgcftlp ghreafpvgp
      241 epgppggrsl perfqaepyg leddtrslaa ddeggpelep dygtatrrrp ecgrglhtra
      301 yedtaddgge laderpafpm vtaplaqper gsmgsldrlv rrspsvdsar keprwrdpel
      361 pevlamlrhp vdpvkanaaa ylqhlcfene gvkrrvrqlr glpllvalld hpraevrrra
      421 cgalrnlsyg rdtdnkaair dcggvpalvr llraardnev relvtgtlwn lssyeplkmv
      481 iidhglqtlt hevivphsgw erepnedskp rdaewttvfk ntsgclrnvs sdgaearrrl
      541 receglvdal lhalqsavgr kdtdnksven cvcimrnlsy hvhkevpgad ryqeaepgpl
      601 gsavgsqrrr rddascfggk kakglacavg tweeastfqp qgpapplass lglpsl
//
LOCUS       XP_011528511             284 aa            linear   PRI 20-MAR-2023
DEFINITION  aspartate-rich protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_011528511
VERSION     XP_011528511.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011530209.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..284
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..284
                     /product="aspartate-rich protein 1 isoform X3"
                     /calculated_mol_wt=31254
     CDS             1..284
                     /gene="DRICH1"
                     /gene_synonym="C22orf43; KB-208E9.1"
                     /coded_by="XM_011530209.3:299..1153"
                     /db_xref="GeneID:51233"
                     /db_xref="HGNC:HGNC:28031"
ORIGIN      
        1 mgniltccin shcgwprgkd apcyesdtdi yetvaaatse sttvepgkld vgategqdlq
       61 hisnqkmptg ppedrlslkf lpsseedndd akilpspvqg ssednlslvc lprsedddcd
      121 dddddaqilp spvqacseds lflrcslrhk deeeeddddi hitariesdl tleslsdeei
      181 hpashnhgwq mprgcvrwps srmklnfrea gesltaldkp sdgtaprdtp ggvdrdmedl
      241 rqrvasnvta dqplgkyqrg fdswarcsrt alskrfsiqt sskk
//
LOCUS       XP_047303400             373 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein adipocyte-associated 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047303400
VERSION     XP_047303400.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447444.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..373
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..373
                     /product="transmembrane protein adipocyte-associated 1
                     isoform X2"
                     /calculated_mol_wt=40922
     Region          39..312
                     /region_name="Tmemb_40"
                     /note="Predicted membrane protein; pfam10160"
                     /db_xref="CDD:431098"
     CDS             1..373
                     /gene="TPRA1"
                     /gene_synonym="GPR175; TMEM227; TPRA40"
                     /coded_by="XM_047447444.1:482..1603"
                     /db_xref="GeneID:131601"
                     /db_xref="HGNC:HGNC:30413"
                     /db_xref="MIM:608336"
ORIGIN      
        1 mdtleevtwa ngstalpppl apnisvphrc llllyedigt srvrywdlll lipnvlflif
       61 llwklpsara kiritsspif itfyilvfvv alvgiaravv smtvstsnaa tvadkilwei
      121 trffllaiel sviilglafg hleskssikr vlaittvlsl aysvtqgtle ilypdahlsa
      181 edfniyghgg rqfwlvsscf fflvyslvvi lpktplkeri slpsrrsfyv yagilallnl
      241 lqglgsvllc fdiieglccv dattflyfsf fapliyvafl rgffgsepki lfsykcqvde
      301 teepdvhlpq pyavarregl eaagaagasa asysstqfds aggvaylddi asmpchtgsi
      361 nstdserwka ina
//
LOCUS       XP_047303414             667 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-17 receptor E isoform X1 [Homo sapiens].
ACCESSION   XP_047303414
VERSION     XP_047303414.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447458.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..667
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..667
                     /product="interleukin-17 receptor E isoform X1"
                     /calculated_mol_wt=74679
     Region          79..448
                     /region_name="IL17_R_N"
                     /note="Interleukin-17 receptor extracellular region;
                     pfam15037"
                     /db_xref="CDD:434410"
     Region          488..611
                     /region_name="TIR_2"
                     /note="TIR domain; cl23749"
                     /db_xref="CDD:451524"
     CDS             1..667
                     /gene="IL17RE"
                     /coded_by="XM_047447458.1:134..2137"
                     /db_xref="GeneID:132014"
                     /db_xref="HGNC:HGNC:18439"
                     /db_xref="MIM:614995"
ORIGIN      
        1 mgssrlaall lplllividl sdsagigfrh lphwntrcpl ashtddsftg ssayipcrtw
       61 walfstkpwc vrvwhcsrcl cqhllsggsg lqrglfhllv qkskksstfk fyrrhkmpap
      121 aqrkllprrh lsekshhisi pspdishkgl rskrtqpsdp etweslprld sqrhggpefs
      181 fdllpearai rvtissgpev svrlchqwal eceelsspyd vqkivsgght velpyefllp
      241 clcieasylq edtvrrkkcp fqswpeaygs dfwksvhftd ysqhtqmvma ltlrcplkle
      301 aalcqrhdwh tlckdlpnat aresdgwyvl ekvdlhpqlc fkfsfgnssh vecphqtgsl
      361 tswnvsmdtq aqqlilhfss rmhatfsaaw slpglgqdtl vppvytvsqa rgsspvsldl
      421 iipflrpgcc vlvwrsdvqf awkhllcpdv syrhlgllil allalltllg vvlaltcrrp
      481 qsgpgparpv lllhaadsea qrrlvgalae llraalgggr dvivdlwegr hvarvgplpw
      541 lwaartrvar eqgtvlllws gadlrpvsgp dpraapllal lhaaprplll layfsrlcak
      601 gdippplral pryrllrdlp rllraldarp faeatswgrl garqrrqsrl elcsrlerea
      661 arladlg
//
LOCUS       XP_016861268             130 aa            linear   PRI 20-MAR-2023
DEFINITION  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform
            X3 [Homo sapiens].
ACCESSION   XP_016861268
VERSION     XP_016861268.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017005779.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..130
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..130
                     /product="CKLF-like MARVEL transmembrane domain-containing
                     protein 8 isoform X3"
                     /calculated_mol_wt=14804
     Region          7..119
                     /region_name="MARVEL"
                     /note="Membrane-associating domain; pfam01284"
                     /db_xref="CDD:366555"
     CDS             1..130
                     /gene="CMTM8"
                     /gene_synonym="CKLFSF8; CKLFSF8-V2"
                     /coded_by="XM_017005779.2:746..1138"
                     /db_xref="GeneID:152189"
                     /db_xref="HGNC:HGNC:19179"
                     /db_xref="MIM:607891"
ORIGIN      
        1 mfrriqvlgl lvwtliagte yfrvpafgwv mfvavfywvl tvffliiyit mtytripqvp
       61 wttvglcfng safvlylsaa vvdassvspe rdshnfnswa assffaflvt icyagntyfs
      121 fiawrsrtiq
//
LOCUS       XP_047305458             219 aa            linear   PRI 20-MAR-2023
DEFINITION  anaphase-promoting complex subunit 10 isoform X1 [Homo sapiens].
ACCESSION   XP_047305458
VERSION     XP_047305458.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449502.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..219
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..219
                     /product="anaphase-promoting complex subunit 10 isoform
                     X1"
                     /calculated_mol_wt=25101
     Region          38..217
                     /region_name="ANAPC10"
                     /note="Anaphase-promoting complex, subunit 10 (APC10);
                     pfam03256"
                     /db_xref="CDD:367420"
     Site            order(87,114,121,123,186)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:176484"
     CDS             1..219
                     /gene="ANAPC10"
                     /gene_synonym="APC10; DOC1"
                     /coded_by="XM_047449502.1:504..1163"
                     /db_xref="GeneID:10393"
                     /db_xref="HGNC:HGNC:24077"
                     /db_xref="MIM:613745"
ORIGIN      
        1 mrstflewas yslqnleaif ltlssmvray nilkmttpnk tppgadpkql ertgtvreig
       61 sqavwslssc kpgfgvdqlr ddnletywqs dgsqphlvni qfrrkttvkt lciyadyksd
      121 esytpskisv rvgnnfhnlq eirqlelvep sgwihvpltd nhkkptrtfm iqiavlanhq
      181 ngrdthmrqi kiytpveess igkfprctti dfmmyrsir
//
LOCUS       XP_047305781             680 aa            linear   PRI 20-MAR-2023
DEFINITION  protein RUFY3 isoform X1 [Homo sapiens].
ACCESSION   XP_047305781
VERSION     XP_047305781.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449825.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..680
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..680
                     /product="protein RUFY3 isoform X1"
                     /calculated_mol_wt=75886
     Region          <5..100
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          128..283
                     /region_name="RUN_RUFY3"
                     /note="RUN domain found in RUN and FYVE domain-containing
                     protein 3 (RUFY3) and similar proteins; cd17696"
                     /db_xref="CDD:439058"
     Region          <332..>600
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          621..668
                     /region_name="FYVE_RUFY3"
                     /note="FYVE-related domain found in RUN and FYVE
                     domain-containing protein 3 (RUFY3) and similar proteins;
                     cd15744"
                     /db_xref="CDD:277283"
     CDS             1..680
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /coded_by="XM_047449825.1:199..2241"
                     /db_xref="GeneID:22902"
                     /db_xref="HGNC:HGNC:30285"
                     /db_xref="MIM:611194"
ORIGIN      
        1 maetppppta gaescseepa rggewrpeep rrapaggtdr egeagpppas pagqsepdsp
       61 vaapffllyp gdggagfgvr pppqqqrswr tppspgsplp flllsypsgg ggssgsgkhh
      121 pnylmanerm nlmnmaklsi kgliesalnl grtldsdyap lqqffvvmeh clkhglkakk
      181 tflgqnksfw gplelveklv peaaeitasv kdlpglktpv grgrawlrla lmqkklseym
      241 kalinkkell sefyepnalm meeegaiiag llvglnvida nfcmkgedld sqvgvidfsm
      301 ylkdgnsskg tegdgqitai ldqknyveel nrhlnatvnn lqakvdalek sntklteela
      361 vannriitlq eemervkees syilesnrkg pkqdrtaegq alsearkhlk eetqlrldve
      421 kelemqismr qemelamkml ekdvcekqda lvslrqqldd lralkhelaf klqssdlgvk
      481 qkselnsrle ektnqmaati kqleqrlrqa ersrqsaeld nrlfkqdfgd kinslqleve
      541 eltrqrnqle lelkqekerr lqndrsipgr gsqkseskmd gkhkmqeenv klkkpleesh
      601 rlqphpmdeq dqlllsekpq lcqlcqedgs ltknvckncs gtfcdacstn elplpssikl
      661 ervcnpchkh lmkqystsps
//
LOCUS       XP_011530053             657 aa            linear   PRI 20-MAR-2023
DEFINITION  protein RUFY3 isoform X2 [Homo sapiens].
ACCESSION   XP_011530053
VERSION     XP_011530053.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011531751.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..657
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..657
                     /product="protein RUFY3 isoform X2"
                     /calculated_mol_wt=73314
     Region          <5..100
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          128..283
                     /region_name="RUN_RUFY3"
                     /note="RUN domain found in RUN and FYVE domain-containing
                     protein 3 (RUFY3) and similar proteins; cd17696"
                     /db_xref="CDD:439058"
     Region          <332..>600
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          <611..645
                     /region_name="FYVE_RUFY3"
                     /note="FYVE-related domain found in RUN and FYVE
                     domain-containing protein 3 (RUFY3) and similar proteins;
                     cd15744"
                     /db_xref="CDD:277283"
     CDS             1..657
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /coded_by="XM_011531751.4:199..2172"
                     /db_xref="GeneID:22902"
                     /db_xref="HGNC:HGNC:30285"
                     /db_xref="MIM:611194"
ORIGIN      
        1 maetppppta gaescseepa rggewrpeep rrapaggtdr egeagpppas pagqsepdsp
       61 vaapffllyp gdggagfgvr pppqqqrswr tppspgsplp flllsypsgg ggssgsgkhh
      121 pnylmanerm nlmnmaklsi kgliesalnl grtldsdyap lqqffvvmeh clkhglkakk
      181 tflgqnksfw gplelveklv peaaeitasv kdlpglktpv grgrawlrla lmqkklseym
      241 kalinkkell sefyepnalm meeegaiiag llvglnvida nfcmkgedld sqvgvidfsm
      301 ylkdgnsskg tegdgqitai ldqknyveel nrhlnatvnn lqakvdalek sntklteela
      361 vannriitlq eemervkees syilesnrkg pkqdrtaegq alsearkhlk eetqlrldve
      421 kelemqismr qemelamkml ekdvcekqda lvslrqqldd lralkhelaf klqssdlgvk
      481 qkselnsrle ektnqmaati kqleqrlrqa ersrqsaeld nrlfkqdfgd kinslqleve
      541 eltrqrnqle lelkqekerr lqndrsipgr gsqkseskmd gkhkmqeenv klkkpleesh
      601 rlqphpmdeq nvckncsgtf cdacstnelp lpssiklerv cnpchkhlmk qystsps
//
LOCUS       XP_047305942             461 aa            linear   PRI 20-MAR-2023
DEFINITION  nephronectin isoform X11 [Homo sapiens].
ACCESSION   XP_047305942
VERSION     XP_047305942.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449986.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..461
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..461
                     /product="nephronectin isoform X11"
                     /calculated_mol_wt=50120
     Region          46..68
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          65..93
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(110,113,129)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          114..149
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          318..457
                     /region_name="MAM"
                     /note="Meprin, A5 protein, and protein tyrosine
                     phosphatase Mu (MAM) domain. MAM is an extracellular
                     domain which mediates protein-protein interactions and is
                     found in a diverse set of proteins, many of which are
                     known to function in cell adhesion. Members...; cd06263"
                     /db_xref="CDD:99706"
     CDS             1..461
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /coded_by="XM_047449986.1:314..1699"
                     /db_xref="GeneID:255743"
                     /db_xref="HGNC:HGNC:27405"
                     /db_xref="MIM:610306"
ORIGIN      
        1 mntygsykcy clngymlmpd gscssaltcs mancqygcdv vkgqircqcp spglqlapdg
       61 rtcvdvdeca tgrascprfr qcvntfgsyi ckchkgfdlm yiggkyqchd idecslgqyq
      121 cssfarcyni rgsykckcke gyqgdgltcv yipkvmieps gpihvpkgng tilkgdtgnn
      181 nwipdvgstw wppktpyipp iitnrptskp ttrptpkptp iptppppppl ptelrtplpp
      241 ttperpttgl ttiapaastp pggitvdnrv qtdpqkprgd vfiprqpsnd lfeifeierg
      301 vsaddeakdd pgvlvhscnf dhglcgwire kdndlhwepi rdpaggqylt vsaakapggk
      361 aarlvlplgr lmhsgdlcls frhkvtglhs gtlqvfvrkh gahgaalwgr ngghgwrqtq
      421 itlrgadiks vvfkgekrrg htgeiglddv slkkghcsee r
//
LOCUS       XP_005248174             247 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 33 isoform X1 [Homo sapiens].
ACCESSION   XP_005248174
VERSION     XP_005248174.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005248117.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..247
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..247
                     /product="transmembrane protein 33 isoform X1"
                     /calculated_mol_wt=27847
     Region          9..245
                     /region_name="UPF0121"
                     /note="Uncharacterized protein family (UPF0121);
                     pfam03661"
                     /db_xref="CDD:427432"
     CDS             1..247
                     /gene="TMEM33"
                     /gene_synonym="1600019D15Rik; Pom33; SHINC-3; SHINC3"
                     /coded_by="XM_005248117.3:145..888"
                     /db_xref="GeneID:55161"
                     /db_xref="HGNC:HGNC:25541"
                     /db_xref="MIM:618515"
ORIGIN      
        1 madttpngpq gagavqfmmt nkldtamwls rlftvycsal fvlpllglhe aasfyqrall
       61 analtsalrl hqrlphfqls raflaqalle dschyllysl ifvnsypvtm sifpvllfsl
      121 lhaatytkkv ldargsnslp llrsvldkls anqqnilkfi acneiflmpa tvfmlfsgqg
      181 sllqpfiyyr fltlryssrr npycrtlfne lrivvehiim kpacplfvrr lclqsiafis
      241 rlaptvp
//
LOCUS       XP_005268455             778 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 26 isoform X3 [Homo sapiens].
ACCESSION   XP_005268455
VERSION     XP_005268455.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005268398.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Mar 26, 2018 this sequence version replaced XP_005268455.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..778
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..778
                     /product="rho GTPase-activating protein 26 isoform X3"
                     /calculated_mol_wt=88054
     Region          15..189
                     /region_name="BAR"
                     /note="The Bin/Amphiphysin/Rvs (BAR) domain, a
                     dimerization module that binds membranes and detects
                     membrane curvature; cl12013"
                     /db_xref="CDD:448379"
     Region          231..335
                     /region_name="BAR-PH_GRAF_family"
                     /note="GTPase Regulator Associated with Focal adhesion and
                     related proteins Pleckstrin homology (PH) domain; cd01249"
                     /db_xref="CDD:269953"
     Region          328..527
                     /region_name="RhoGAP_Graf"
                     /note="GTPase-activator protein (GAP) domain for Rho-like
                     GTPases found in GRAF (GTPase regulator associated with
                     focal adhesion kinase); Graf is a multi-domain protein,
                     containing SH3 and PH domains, that binds focal adhesion
                     kinase and influences cytoskeletal...; cd04374"
                     /db_xref="CDD:239839"
     Site            order(376,418,422,491,494..495,518)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239839"
     Site            376
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239839"
     Region          723..778
                     /region_name="SH3_GRAF"
                     /note="Src Homology 3 domain of GTPase Regulator
                     Associated with Focal adhesion kinase; cd12064"
                     /db_xref="CDD:212997"
     Site            order(729,731,734,738,757..758,771,773..774)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212997"
     CDS             1..778
                     /gene="ARHGAP26"
                     /gene_synonym="GRAF; GRAF1; OPHN1L; OPHN1L1"
                     /coded_by="XM_005268398.6:104..2440"
                     /db_xref="GeneID:23092"
                     /db_xref="HGNC:HGNC:17073"
                     /db_xref="MIM:605370"
ORIGIN      
        1 meralprgrc lplgkdlssa krkfadslne fkfqcigdae tddemciars lqefatvlrn
       61 lederirmie nasevlitpl ekfrkeqiga akeakkkydk etekycgile khlnlsskkk
      121 esqlqeadsq vdlvrqhfye vsleyvfkvq evqerkmfef vepllaflqg lftfyhhgye
      181 lakdfgdfkt qltisiqntr nrfegtrsev eslmkkmken plehktispy tmegylyvqe
      241 krhfgtswvk hyctyqrdsk qitmvpfdqk sggkggedes vilksctrrk tdsiekrfcf
      301 dveavdrpgv itmqalseed rrlwmeamdg repvynsnkd sqsegtaqld sigfsiirkc
      361 ihavetrgin eqglyrivgv nsrvqkllsv lmdpktaset etdicaewei ktitsalkty
      421 lrmlpgplmm yqfqrsfika aklenqesrv seihslvhrl peknrqmlql lmnhlanvan
      481 nhkqnlmtva nlgvvfgptl lrpqeetvaa imdikfqniv ieilienhek ifntvpdmpl
      541 tnaqlhlsrk kssdskppsc serpltlfht vqstekqeqr nsiinssles vssnpnsiln
      601 sssslqpnmn ssdpdlavvk ptrpnslppn psptsplsps wpmfsapssp mptsstssds
      661 spvrsvagfv wfsvaavvls larsslhavf sllvnfvpch pnlhllfdrp eeavhedsst
      721 pfrkakalya ckaehdsels ftagtvfdnv hpsqepgwle gtlngktgli penyvefl
//
LOCUS       XP_047273139             473 aa            linear   PRI 20-MAR-2023
DEFINITION  myocyte-specific enhancer factor 2C isoform X1 [Homo sapiens].
ACCESSION   XP_047273139
VERSION     XP_047273139.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417183.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..473
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..473
                     /product="myocyte-specific enhancer factor 2C isoform X1"
                     /calculated_mol_wt=51090
     Region          2..78
                     /region_name="MADS_MEF2_like"
                     /note="MEF2 (myocyte enhancer factor 2)-like/Type II
                     subfamily of MADS (MCM1, Agamous, Deficiens, and SRF
                     (serum response factor) box family of eukaryotic
                     transcriptional regulators. Binds DNA and exists as hetero
                     and homo-dimers. Differs from SRF-like/Type I...; cd00265"
                     /db_xref="CDD:238165"
     Site            order(2..4,6,8,13,15,19..20,23..24,26..27,30..31,33..34,
                     38)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238165"
     Site            order(21,28..29,32..33,35..36,39,44,46,48,54,56,62,65..66,
                     69,72..73)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238165"
     Site            59
                     /site_type="other"
                     /note="putative phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:238165"
     Region          <107..155
                     /region_name="HJURP_C"
                     /note="Holliday junction regulator protein family
                     C-terminal repeat; pfam12347"
                     /db_xref="CDD:432495"
     CDS             1..473
                     /gene="MEF2C"
                     /gene_synonym="C5DELq14.3; DEL5q14.3; NEDHSIL"
                     /coded_by="XM_047417183.1:482..1903"
                     /db_xref="GeneID:4208"
                     /db_xref="HGNC:HGNC:6996"
                     /db_xref="MIM:600662"
ORIGIN      
        1 mgrkkiqitr imdernrqvt ftkrkfglmk kayelsvlcd ceialiifns tnklfqyast
       61 dmdkvllkyt eynephesrt nsdivetlrk kglngcdspd pdaddsvghs pesedkyrki
      121 nedidlmisr qrlcavpppn fempvsipvs shnslvysnp vsslgnpnll plahpslqrn
      181 smspgvthrp psagntgglm ggdltsgagt sagngygnpr nspgllvspg nlnknmqaks
      241 pppmnlgmnn rkpdlrvlip pgskntmpsv sedvdlllnq rinnsqsaqs latpvvsvat
      301 ptlpgqgmgg ypsaisttyg teyslssadl sslsgfntas alhlgsvtgw qqqhlhnmpp
      361 salsqlgact sthlsqssnl slpstqslni ksepvspprd rtttpsrypq htrheagrsp
      421 vdslsscsss ydgsdredhr nefhspiglt rpspderesp svkrmrlseg wat
//
LOCUS       XP_047276385             856 aa            linear   PRI 20-MAR-2023
DEFINITION  2-oxoglutarate dehydrogenase complex component E1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047276385
VERSION     XP_047276385.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420429.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..856
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..856
                     /product="2-oxoglutarate dehydrogenase complex component
                     E1 isoform X4"
                     /calculated_mol_wt=97550
     Region          7..848
                     /region_name="sucA"
                     /note="2-oxoglutarate dehydrogenase E1 component;
                     Reviewed; PRK09404"
                     /db_xref="CDD:236499"
     CDS             1..856
                     /gene="OGDH"
                     /gene_synonym="AKGDH; E1k; E1o; KGD1; OGDC; OGDH-E1;
                     OGDH2; OGDHD"
                     /coded_by="XM_047420429.1:334..2904"
                     /db_xref="GeneID:4967"
                     /db_xref="HGNC:HGNC:8124"
                     /db_xref="MIM:613022"
ORIGIN      
        1 mltvggfygl desdldkvfh lptttfiggq esalplreii rrlemaycqh igvefmfind
       61 leqcqwirqk fetpgimqft neekrtllar lvrstrfeef lqrkwssekr fglegcevli
      121 palktiidks sengvdyvim gmphrgrlnv lanvirkele qifcqfdskl eaadegsgdv
      181 kyhlgmyhrr inrvtdrnit lslvanpshl eaadpvvmgk tkaeqfycgd tegkkvmsil
      241 lhgdaafagq givyetfhls dlpsytthgt vhvvvnnqig fttdprmars spyptdvarv
      301 vnapifhvns ddpeavmyvc kvaaewrstf hkdvvvdlvc yrrnghnemd epmftqplmy
      361 kqirkqkpvl qkyaellvsq gvvnqpeyee eiskydkice eafarskdek ilhikhwlds
      421 pwpgfftldg qprsmscpst gltedilthi gnvassvpve nftihgglsr ilktrgemvk
      481 nrtvdwalae ymafgsllke gihirlsgqd vergtfshrh hvlhdqnvdk rtcipmnhlw
      541 pnqapytvcn sslseygvlg felgfamasp nalvlweaqf gdfhntaqci idqficpgqa
      601 kwvrqngivl llphgmegmg pehssarper flqmcnddpd vlpdlkeanf dinqlydcnw
      661 vvvncstpgn ffhvlrrqil lpfrkpliif tpksllrhpe arssfdemlp gthfqrvipe
      721 dgpaaqnpen vkrllfctgk vyydltrerk ardmvgqvai trieqlspfp fdlllkevqk
      781 ypnaelawcq eehknqgyyd yvkprlrtti srakpvwyag rdpaaapatg nkkthltelq
      841 rlldtafdld vfknfs
//
LOCUS       XP_047277775            1018 aa            linear   PRI 20-MAR-2023
DEFINITION  PHD finger protein 20-like protein 1 isoform X6 [Homo sapiens].
ACCESSION   XP_047277775
VERSION     XP_047277775.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421819.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1018
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1018
                     /product="PHD finger protein 20-like protein 1 isoform X6"
                     /calculated_mol_wt=114979
     Region          13..72
                     /region_name="MBT_PHF20L1-like"
                     /note="malignant brain tumor (MBT) repeat found in PHD
                     finger protein 20-like protein 1 (PHF20L1) and similar
                     domains; cd20104"
                     /db_xref="CDD:439094"
     Site            order(23,26..27,29,47,50,54)
                     /site_type="other"
                     /note="putative methyllysine peptide binding site
                     [polypeptide binding]"
                     /db_xref="CDD:439094"
     Region          86..143
                     /region_name="Tudor_PHF20L1"
                     /note="Tudor domain found in PHD finger protein 20-like
                     protein 1 (PHF20L1) and similar proteins; cd20454"
                     /db_xref="CDD:410525"
     Region          319..415
                     /region_name="PHD20L1_u1"
                     /note="PHD finger protein 20-like protein 1; pfam16660"
                     /db_xref="CDD:435495"
     Region          684..729
                     /region_name="PHD_PHF20L1"
                     /note="PHD finger found in PHD finger protein 20-like
                     protein 1 (P20L1); cd15633"
                     /db_xref="CDD:277103"
     Site            order(684,695..699,703,722)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277103"
     CDS             1..1018
                     /gene="PHF20L1"
                     /gene_synonym="CGI-72; TDRD20B; URLC1"
                     /coded_by="XM_047421819.1:296..3352"
                     /db_xref="GeneID:51105"
                     /db_xref="HGNC:HGNC:24280"
                     /db_xref="MIM:620050"
ORIGIN      
        1 mskkppnrpg itfeigarle aldylqkwyp sriekidyee gkmlvhferw shrydewiyw
       61 dsnrlrpler palrkeglkd eedffdfkag eevlarwtdc ryypakieai nkegtftvqf
      121 ydgvirclkr mhikampeda kgqvksqhpl swccpidpag scnqsmgsed wialvkaaaa
      181 aaaknktgsk prtsansnkd kdkderkwfk vpskkeetst ciatpdvekk edlptssetf
      241 vglhvenvpk mvfpqpestl snkrknnqgn sfqakrarln kitgllaska vgvdgaekke
      301 dynetapmle qaispkpqsq kkneadisss antqkpalls stlssgkars kkckhesgds
      361 sgcikppksp lspeliqved ltlvsqlsss vinktsppqp vnpprpfkhs errrrsqrla
      421 tlpmpddsve kvsspspatd gkvfsissqn qqessvpevp dvahlplekl gpclpldlsr
      481 gsevtapvas dssyrnecpr aekedtqmlp npsskaiadg rgapaaagis ktekkvkled
      541 ksstafgkrk ekdkerrekr dkdhyrpkqk kkkkkkkksk qhdysdyeds sleflercss
      601 pltrssgssl asrsmftekt ttyqyprail svdlsgenls dvdflddsst eslllsgdey
      661 nqdfdstnfe esqdeddaln eivrcicemd eengfmiqce eclcwqhsvc mglleesipe
      721 qyicyicrdp pgqrwsakyr ydkewlnngr mcglsffken yshlnakkiv sthhlladvy
      781 gvtevlhglq lkigilknkh hpdlhlwacs gkrkdqdqii agvekkiaqd tvnreekkyv
      841 qnhkepprlp lkmegtyits ehsyqkpqsf gqdcksladp gssddddvss leeeqefhmr
      901 sknslqysak ehgmpeknpa egntvfvynd kkgtedpgds hlqwqlnllt hienvqnevt
      961 srmdliekev dvleswldft geleppdpla rlpqlkrhik qllidmgkvq qiatlcsv
//
LOCUS       XP_047277894             213 aa            linear   PRI 20-MAR-2023
DEFINITION  1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon isoform X1
            [Homo sapiens].
ACCESSION   XP_047277894
VERSION     XP_047277894.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421938.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..213
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..213
                     /product="1-acyl-sn-glycerol-3-phosphate acyltransferase
                     epsilon isoform X1"
                     /calculated_mol_wt=24426
     Region          <1..112
                     /region_name="LPLAT_LCLAT1-like"
                     /note="Lysophospholipid Acyltransferases (LPLATs) of
                     Glycerophospholipid Biosynthesis: LCLAT1-like; cd07990"
                     /db_xref="CDD:153252"
     Region          107..165
                     /region_name="Acyltransf_C"
                     /note="Acyltransferase C-terminus; pfam16076"
                     /db_xref="CDD:435120"
     CDS             1..213
                     /gene="AGPAT5"
                     /gene_synonym="1AGPAT5; LPAATE; LPLAT5"
                     /coded_by="XM_047421938.1:411..1052"
                     /db_xref="GeneID:55326"
                     /db_xref="HGNC:HGNC:20886"
                     /db_xref="MIM:614796"
ORIGIN      
        1 mrnklqsyvd agtpmylvif pegtrynpeq tkvlsasqaf aaqrglavlk hvltprikat
       61 hvafdcmkny ldaiydvtvv yegkddggqr resptmtefl ckecpkihih idridkkdvp
      121 eeqehmrrwl herfeikdkm liefyespdp errkrfpgks vnsklsikkt lpsmlilsgl
      181 tagmlmtdag rklyvntwiy gtllgclwvt ika
//
LOCUS       XP_006716777             148 aa            linear   PRI 20-MAR-2023
DEFINITION  izumo sperm-egg fusion protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_006716777
VERSION     XP_006716777.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006716714.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..148
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..148
                     /product="izumo sperm-egg fusion protein 3 isoform X1"
                     /calculated_mol_wt=16695
     Region          21..147
                     /region_name="IZUMO"
                     /note="Izumo sperm-egg fusion, Ig domain-associated;
                     pfam15005"
                     /db_xref="CDD:434383"
     CDS             1..148
                     /gene="IZUMO3"
                     /gene_synonym="bA20A20.1; C9orf134"
                     /coded_by="XM_006716714.5:249..695"
                     /db_xref="GeneID:100129669"
                     /db_xref="HGNC:HGNC:31421"
                     /db_xref="MIM:618896"
ORIGIN      
        1 mgdlwlflll plsafhgvkg clecdpkfie dvgsllgnli psevpgrtql lerqikemih
       61 lsfkvshsdk rlrvlavqqv vklrtwlkne fyklgnetwk gvfiyqgkll dvcqnleskl
      121 kellknfsei acsedcseys tcdalscg
//
LOCUS       XP_016884761             271 aa            linear   PRI 20-MAR-2023
DEFINITION  MICOS complex subunit MIC27 isoform X1 [Homo sapiens].
ACCESSION   XP_016884761
VERSION     XP_016884761.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029272.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..271
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..271
                     /product="MICOS complex subunit MIC27 isoform X1"
                     /calculated_mol_wt=29311
     Region          42..179
                     /region_name="ApoO"
                     /note="Apolipoprotein O; pfam09769"
                     /db_xref="CDD:430812"
     CDS             1..271
                     /gene="APOOL"
                     /gene_synonym="CXorf33; FAM121A; Mic27; MICOS27; UNQ8193"
                     /coded_by="XM_017029272.2:37..852"
                     /db_xref="GeneID:139322"
                     /db_xref="HGNC:HGNC:24009"
                     /db_xref="MIM:300955"
ORIGIN      
        1 maairmgklt tmpagliyas vsvhaakqee skkqlvkpeq lpiytapplq skyveeqpgh
       61 lqmgfasirt atgcyigwck gvyvfvkngi mdtvqfgkda yvylknpprd flpkmgvitv
      121 sglaglvsar kgskfkkity plglatlgat vcypvqsvii akvtakkvya tsqqifgavk
      181 slwtksskee slpkpkektk lgssseievp aktthvlkhs vplptelsse aktksestsg
      241 llgatqfmpd pklmdhgqsh pedidmystr s
//
LOCUS       XP_047298400             844 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger X-chromosomal protein isoform X1 [Homo sapiens].
ACCESSION   XP_047298400
VERSION     XP_047298400.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442444.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..844
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..844
                     /product="zinc finger X-chromosomal protein isoform X1"
                     /calculated_mol_wt=94255
     Region          109..449
                     /region_name="Zfx_Zfy_act"
                     /note="Zfx / Zfy transcription activation region;
                     pfam04704"
                     /db_xref="CDD:428075"
     Region          <416..>496
                     /region_name="ROS_MUCR"
                     /note="ROS/MUCR transcriptional regulator protein;
                     cl19880"
                     /db_xref="CDD:450395"
     Region          466..486
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          497..521
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          529..549
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(534,536,538,540..541,544..545,548,594,596,600..601,
                     604..605,608,622,624,626,628..629,632..633,636)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          582..>719
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          589..609
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          617..636
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          674..695
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          703..723
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          758..780
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          760..780
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(765,767,769,771..772,775..776,779,793,795,799..800,
                     803..804,808,822,824,826,828..829,832..833,836)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          772..796
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          788..809
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          817..837
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..844
                     /gene="ZFX"
                     /gene_synonym="ZNF926"
                     /coded_by="XM_047442444.1:239..2773"
                     /db_xref="GeneID:7543"
                     /db_xref="HGNC:HGNC:12869"
                     /db_xref="MIM:314980"
ORIGIN      
        1 mdedglelqq epnsffdatd rvsfchpgws tvapsgstat sasqaqvics asrvtgatga
       61 dgthmdgdqi vvevqetvfv sdvvdsditv hnfvpddpds vviqdviedv viedvqcpdi
      121 meeadvsetv iipeqvldsd vteevslahc tvpddvlasd itsasmsmpe hvltgdsihv
      181 sdvghvghvg hvehvvhdsv veaeivtdpl ttdvvseevl vadcaseavi dangipvdqq
      241 dddkgncedy lmislddagk iehdgssgmt mdteseidpc kvdgtcpevi kvyifkadpg
      301 eddlggtvdi vesependhg velldqnssi rvprekmvym tvndsqpede dlnvaeiade
      361 vymevivgee daaaaaaaaa vheqqmddne iktfmpiawa aaygnnsdgi enrngtasal
      421 lhidesaglg rlakqkpkkr rrpdsrqyqt aiiigpdghp ltvypcmicg kkfksrgflk
      481 rhmknhpehl akkkyrctdc dyttnkkisl hnhleshklt skaekaiecd ecgkhfshag
      541 alfthkmvhk ekgankmhkc kfceyetaeq gllnrhllav hsknfphicv ecgkgfrhps
      601 elkkhmriht gekpyqcqyc eyrsadssnl kthvktkhsk empfkcdicl ltfsdtkevq
      661 qhalihqesk thqclhcdhk ssnssdlkrh iisvhtkdyp hkcdmcdkgf hrpselkkhv
      721 aahkgkkmhq crhcdfkiad pfvlsrhils vhtkdlpfrc krcrkgfrqq selkkhmkth
      781 sgrkvyqcey ceysttdasg fkrhvisiht kdyphrceyc kkgfrrpsek nqhimrhhke
      841 vglp
//
LOCUS       XP_054185027             302 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear pore complex-interacting protein family member A5 isoform
            X11 [Homo sapiens].
ACCESSION   XP_054185027
VERSION     XP_054185027.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329052.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187607.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..302
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.12-12.3"
     Protein         1..302
                     /product="nuclear pore complex-interacting protein family
                     member A5 isoform X11"
                     /calculated_mol_wt=34919
     CDS             1..302
                     /gene="NPIPA5"
                     /gene_synonym="NPIP"
                     /coded_by="XM_054329052.1:16..924"
                     /db_xref="GeneID:100288332"
                     /db_xref="HGNC:HGNC:41980"
ORIGIN      
        1 mrvrwllfwl lfwlllgfis hqstcvintl adhrhrgtdf ggspwlliit vflrsykfai
       61 slctsylcvs flktifpsqn ghdgstdvqq rarrsncrrq egikivledi ftlwrqvetk
      121 vrakirkmkv ttkvnchdki ngkrktakeh lrklsmkere hgekerqvse aeengkldmk
      181 eihtymemfq raralrrrae dyyrckitps arkplcnrvs llvflafghs lpgqdmdtff
      241 slrlcaqalq remaerkaay khhspipvgn rvaqkhlhph pvgppsnils vrgsifvian
      301 gp
//
LOCUS       XP_054185084             371 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear distribution protein nudE homolog 1 isoform X7 [Homo
            sapiens].
ACCESSION   XP_054185084
VERSION     XP_054185084.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329109.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187607.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..371
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.12-12.3"
     Protein         1..371
                     /product="nuclear distribution protein nudE homolog 1
                     isoform X7"
                     /calculated_mol_wt=42672
     CDS             1..371
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /coded_by="XM_054329109.1:494..1609"
                     /db_xref="GeneID:54820"
                     /db_xref="HGNC:HGNC:17619"
                     /db_xref="MIM:609449"
ORIGIN      
        1 mntafpvtgw asrkeilrhh atrrvisspv ftmedsgktf sseeeeanyw kdlamtykqr
       61 aentqeelre fqegsreyea eletqlqqie trnrdllsen nrlrmeleti kekfevqhse
      121 gyrqisaled dlaqtkaikd qlqkyirele qanddlerak ratimsledf eqrlnqaier
      181 nafleselde kenllesvqr lkdeardlrq elavqqkqek prtpmpssve aertdtavqa
      241 tgsvpstpia hrgpssslnt pgsfrrgldd stggtpltpa arisalnivg dllrkvgrfn
      301 kvnqrvkdsr sgfptsykrs wiigtgvqtr flpeprvrsv pkpnrwpslw aeqqeqrwrg
      361 etakqhqraf g
//
LOCUS       XP_054186698             272 aa            linear   PRI 20-MAR-2023
DEFINITION  V-set and transmembrane domain-containing protein 1 isoform X5
            [Homo sapiens].
ACCESSION   XP_054186698
VERSION     XP_054186698.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330723.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571057.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..272
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..272
                     /product="V-set and transmembrane domain-containing
                     protein 1 isoform X5"
                     /calculated_mol_wt=30523
     CDS             1..272
                     /gene="VSTM1"
                     /gene_synonym="SIRL-1; SIRL1; UNQ3033"
                     /coded_by="XM_054330723.1:121..939"
                     /db_xref="GeneID:284415"
                     /db_xref="HGNC:HGNC:29455"
                     /db_xref="MIM:616804"
ORIGIN      
        1 mtaeflsllc lglclgyede kknekppkps lhawpssvve aesnvtlkcq ahsqnvtfvl
       61 rkvndsgykq eqssaeneae fpftdlkpkd agryfcaykt tashewsess ehlqlvvtgs
      121 lpepllsvnv dpgmtpglrt lrcltpyngt eciviallkm gipeplqvrq vrknqtdfml
      181 wnvtsndsgn yscvyylsns shlasfpsnk leiwvtdkhd eleapsmktd trtifvaifs
      241 cisilllfls vfiiyrcsqh selrerkgre ge
//
LOCUS       XP_054189367             565 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 185 isoform X44 [Homo sapiens].
ACCESSION   XP_054189367
VERSION     XP_054189367.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333392.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791818) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..565
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..565
                     /product="zinc finger protein 185 isoform X44"
                     /calculated_mol_wt=60285
     CDS             1..565
                     /gene="ZNF185"
                     /gene_synonym="SCELL"
                     /coded_by="XM_054333392.1:218..1915"
                     /db_xref="GeneID:7739"
                     /db_xref="HGNC:HGNC:12976"
                     /db_xref="MIM:300381"
ORIGIN      
        1 msisalggrt kgkplppgee ernnvlkqmk vrttlkgdks witkqdeseg rtielpsgrs
       61 ratsfssage vpkprppstr aptgyiirgv ftkpidsssq pqqqfpkang tpksaaslvr
      121 tanagpprps ssgykmtted ykklapynir rsstsgdtee eeeeevvpfs sdeqkrrsea
      181 asgvlrrtap rehsyvlsaa kkstgsptqe tqapfiakrv evveedgpse ksqdppalar
      241 stpgsnrssp gnkdkeapcs relqrdlage eafrapntda arssaqlsdg nvgsgatgsr
      301 peglaavdig sergsssats vsavpadrks nstaaqedak adpkgalady egkdvatrvg
      361 eawqerpgap rggqgdpavp aqqpadpstp erqsspsgse qlvrrescgs rvrspsscmv
      421 tvtvtatseq phiyipapas eldsssttkg ilfvkeyvna sevssgkpvs arysnvssie
      481 dsfamekkpp cgstpysert tggictycnr eirdcpkitl ehlgicchey cfkcgicskp
      541 mgdlldqifi hrdtihcgkc yeklf
//
LOCUS       XP_054189457             403 aa            linear   PRI 20-MAR-2023
DEFINITION  killer cell immunoglobulin-like receptor 3DL2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054189457
VERSION     XP_054189457.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333482.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187676.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..403
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..403
                     /product="killer cell immunoglobulin-like receptor 3DL2
                     isoform X1"
                     /calculated_mol_wt=44221
     CDS             1..403
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /coded_by="XM_054333482.1:34..1245"
                     /db_xref="GeneID:3812"
                     /db_xref="HGNC:HGNC:6339"
                     /db_xref="MIM:604947"
ORIGIN      
        1 msltvvsmac vgffllqgaw plmggqdkpf lsarpstvvp rgghvalqch yrrgfnnfml
       61 ykedrshvpi fhgrifqesf imgpvtpaha gtyrcrgsrp hsltgwsaps nplvimvtgn
      121 hrkpsllahp gpllksgetv ilqcwsdvmf ehfflhregi sedpsrlvgq ihdgvskanf
      181 sigplmpvla gtyrcygsvp hspyqlsaps dpldivitgl yekpslsaqp gptvqagenv
      241 tlscsswssy diyhlsrege aherrlravp kvnrtfqadf plgpathggt yrcfgsfhal
      301 pcvwsnssdp llvsvtdaav mdqepagdrt vnrqdsdeqd pqevtyaqld hcvfiqrkis
      361 rpsqrpktpl tdtsvytelp naeprskvvs cprapqsgle gvf
//
LOCUS       XP_054189464             328 aa            linear   PRI 20-MAR-2023
DEFINITION  putative killer cell immunoglobulin-like receptor like protein
            KIR3DP1 [Homo sapiens].
ACCESSION   XP_054189464
VERSION     XP_054189464.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333489.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187677.1) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..328
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..328
                     /product="putative killer cell immunoglobulin-like
                     receptor like protein KIR3DP1"
                     /calculated_mol_wt=35906
     CDS             1..328
                     /gene="LOC128966731"
                     /coded_by="XM_054333489.1:2..988"
                     /db_xref="GeneID:128966731"
ORIGIN      
        1 mslmvvsmac vgffllqgaw pheggqdkpf lsawpspvvs egehvalqcr srlgfnefsl
       61 skedgmpvpe lynrvfrntv figpvtpaha gtyrcrgshp hfltgwsaps nplvimvtgv
      121 hrkpsllahp gplvkseetv ilqcwsdvmf ehfllhregk fndtlrltge lhdgvskanf
      181 sigrmtqdla gtyrcygsvp hspyqlsaps dpldivitgl cgkpslsaqp rpmvkagesv
      241 tlscssrssy diyhlsrege ahelrfpavp kvngtfqanf plgpathggt yrcfgsfrds
      301 pyewsdlsdp llvsvtdsmk ekgkdvil
//
LOCUS       XP_054189621             133 aa            linear   PRI 20-MAR-2023
DEFINITION  TCF3 fusion partner isoform X1 [Homo sapiens].
ACCESSION   XP_054189621
VERSION     XP_054189621.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333646.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187693.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..133
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..133
                     /product="TCF3 fusion partner isoform X1"
                     /calculated_mol_wt=14179
     CDS             1..133
                     /gene="TFPT"
                     /gene_synonym="amida; FB1; INO80F"
                     /coded_by="XM_054333646.1:165..566"
                     /db_xref="GeneID:29844"
                     /db_xref="HGNC:HGNC:13630"
                     /db_xref="MIM:609519"
ORIGIN      
        1 mrvldsygdd yrasqftivl edegsqgtda ptpgnaenep peketlsppr rtpappepgs
       61 papgegpsgr krrrvprdgr ragnaltpel apvqikveed fgfeadeald sswvsrgpdk
      121 llpyptlasp asd
//
LOCUS       XP_054190324            4616 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein axonemal heavy chain 14 isoform X1 [Homo sapiens].
ACCESSION   XP_054190324
VERSION     XP_054190324.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334349.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4616
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..4616
                     /product="dynein axonemal heavy chain 14 isoform X1"
                     /calculated_mol_wt=529715
     CDS             1..4616
                     /gene="DNAH14"
                     /gene_synonym="C1orf67; Dnahc14; HL-18; HL18"
                     /coded_by="XM_054334349.1:216..14066"
                     /db_xref="GeneID:127602"
                     /db_xref="HGNC:HGNC:2945"
                     /db_xref="MIM:603341"
ORIGIN      
        1 metfipidlt tenqemdkee tktkprllry eekkyedvkp letqpaeiae ketleyktvr
       61 tfseslksek tedylresii qqhmvspepa slkekgksrr kkdqthacpn vrkarpvsyd
      121 rtepkdddvi rniirlrekl gwqtilpqhs lkygsskiai qkitlkkple ddgefvyclp
      181 rkspkslynp ydlqvvsaht akhckefwvi tasfiskvin ivgsvkevel iptlewlser
      241 rhyyllrqfk ifsdfrmnka fvtwklnvkr ikteksrsfl yhhlfladdl fqtclvyirg
      301 lcedainlkn yndhennlsa iclvkldssr tysldefcee qlqqatqalk qledirnkai
      361 semkstflkv aekneikeyf esklseddtt hfklpkyrrl letffkfvml vdyifqelir
      421 qlmntavtll lelfngsagm pfsvekknen lirtfkdnsf ptgkttndce elvdnsklha
      481 isvqksevkt dtdineilns vevgkdlrkt yapifevnlc lripaesdss enskenfhes
      541 dqcpeecvmf edemsenkdn cvkkhsseel lpkakkskei synlediisd teietefenk
      601 ymyyefpefp tnlfidpnrl efsvkiqnml tnmekcitti tplcqdpqls ifidlvsimd
      661 lpnktgsiih ykeqtrwpdc hilfetdpay qniivnllti ignsmglvna yshkfikyct
      721 mtekakimsm kissmgelts kefeailnrf rnyfrhivnm aiekrigifn vvsldyqsec
      781 llyidnvihm shtliqsvie kknknllevv esslqqlecd pteieefveh fiflnaissk
      841 isklekeflt msqlysvakh hqihiseeqi aifqvlllkf sqlkssmkls kinkdtaitk
      901 frdnleacis glhvdvgnlk akirtplllc dgtqvstame miqtlsgeaa sltnkakays
      961 hyqdcfsdsq shmhsvnvee itqivlseis diegdltlrk klweaqeewr qaswewrnss
     1021 lqsidvesvq rnvsklmhii svlekglpks dmvthlkqvv tefkqelpii ialgnpclkp
     1081 rhwealqeii gksvpldkyc kvenllalki fqyeneindm stsatneaal ekmlfkiidf
     1141 wnttplplil hhteiysifi ipsiddisaq leesqvilat ikgsphigpi kdlvnewdqn
     1201 ltlfsytlee wmncqrnwly lepvfhssei rrqlpaetel fsqvismwkk imskiqnkqn
     1261 alqittsagv leilqncnih lehikksled ylevkrlifp rfyflsnael ldiladsrnp
     1321 esvqphlvkc fenikqlliw kqdigppavk mlisaegegl vlpkkirvrs aveqwlvnve
     1381 ksmfdvlkkf lsqgiedwnc qmfsqwvlsh pgqvvltvsq imfyndcvks fvssysrekl
     1441 ekvhaglmch leevadlvvl dtsnsrtkai lgallilyvh crdivinlll knifnaedfe
     1501 wtrhlqykwn ekqklcyvsq gnasftygye ylgctsrlvi tpltdrcwlt lmealhlnlg
     1561 gcpagpagtg ktetvkdlak slgkhcvvfn cfedldykiv rkfffglvqs gawscfdefn
     1621 lidlevlsvi asqiltikaa kdnysarfvl egkeirinms cavfitmnpr ygggvelpdn
     1681 lkslfrpvam mvphyqmiae iilfsfgfks anslsgkltn lyelarkqls qqdhynfglr
     1741 slkivlimag tkkrefkcdt sdslseadet livieairea slpkcppedv plfeniigdi
     1801 fpevtvlkvn qlalekviyt atqqlglqnw ssqkekiiqf ynqlqvcvgv mlvgptgggk
     1861 ttvrrileka ltllpiadfl svaerksask iserkgkvdi cvlnpkcvtl selygqldpn
     1921 tmewtdglls atirsyvyfn tpkntkkdid lrlksrisdl snvfkldssd ttetddnife
     1981 eiekvvkipe nhnfdwqwii ldgpvdtfwv enlnsvlddt rtlclanser ialtnkirvi
     2041 fevdnlsqas patvsrcamv ymdpvdlgwe pyvkswllkt skiisqsgvd clefmiknsv
     2101 tdglqfirnr qkfqpypmed itvvitlcri ldaffdfmgk nggfeqsddl ndtsskeans
     2161 qresvtfkdi ekrdentwyp eknpdkltki iqklfvfaft wafggalnre dehrenipfc
     2221 pslepdslak vtydfdklvh elfgnssqvg inlptgecsi fgyfvdieqc efipwsdlvp
     2281 ndqtliqrgt slltnlqrsg gnflkitecg ecinytatrd ttclsflmsl llknscpvll
     2341 tgesgvgkta ainqmlekle gpgafdikhg silgdtllys eikksslkqn itilipethk
     2401 tatgssdnpt kkpevrtnkk llknndhkgv vvstinfstn vtaaktkemi lkklirrtkd
     2461 tlgapknnri lifiddmnmp vsdmygaqpp lelirqlldl ggvydteknt wkniqdlsiv
     2521 aacvpvvndi sprllkhfsm lvlphpsqdi lctifqahlg iyfsinnftp evqkskdqii
     2581 scslaiyhqv rqnmlptptk chymfnlrdm fklllgllqa drtvvnskem aallfvheat
     2641 rvfhdrlidf tdkslfyrll srelencfqi qwtqenlmnh stvfldfldi nkthrkkiyq
     2701 ntsdynklas vldefqmklg sislelshsm vffkeaiehi iratrvlrqp gshmlligid
     2761 gcgkktcatl acyltdnkly rvpishkcay iefkevfkkv fihaglkgkp tvlmvpnlni
     2821 eqdsfledln yiissgripd lfenveldsi amkirylteq sghmdnrqsl lsffqkriyk
     2881 nlhifvimsp egpsfrqncr vypsmissct idwyerwpee allivansfl kekvnfenre
     2941 nlkeklaptc vqihksmkdl nrkyfeetgr fyyttpnsyl qfmetfahil rareeemqtk
     3001 rdrfhmglst ileattlvte mqeellilgp qveqktkete tlmeklrkds qvvekvqmlv
     3061 kqdeeivaee vrivedyaqk tanelksvlp afdkaivaln aldkadvael rvytrppflv
     3121 ltvmnavcil lqkkpnwata klllsetgfl kklinldkds ipdkvfvklk kivtlpdfnp
     3181 hkislvsvac cslcqwvial nnyhevqkvv gpkqiqvaea qnvlkiarqr laekqrglql
     3241 veehllflqa aykdtvaekq llanrktmas rrfqcasvll tvledektrw qetinqidnk
     3301 legilgdill saacivysgi ltpefrqliv nkwetfcien gislsskfsl ikvmaqkyei
     3361 srwhnqglph gqysvenail ikngqqwpll idphrqahkw irqmegsrlq klsiedsnyt
     3421 kkienamktg gsvllqnlle tlapglkail kkdiyqkkgh yfirvgdaef eynsnfrlyl
     3481 steienphfl psvynfvtmi nftvtfqglq dqllstvvth evphledqrs kllesislda
     3541 itleeleekt lnllqkalgs ildddeivdt lrkskmtsne iskrieatkk aeseiqairk
     3601 nylpiatrga llyflvadlt qinymyqfsl dwfhqvfvss vvskskereh sfkrekvspk
     3661 evhefisisk epnleneknl ldkhiksaid mltksifkvv ssalfnedkl cfsfrlctai
     3721 mqnnangnli qddigflpee ewniflysgi liniksalsq skltstfeig esqhlqwlsd
     3781 srwrqcqyvs thlepfsllc ksllsnvsqw dtfknskavy slistpfsse nasleentkp
     3841 peetellnen ketcnpinfp wekltsfqrl ilvkvlrpes lnnsvrkfit ekmgnkylqr
     3901 tgvnlkdayk gsnartplil iqthgidltn illrfaqelk gtthhvtiis lgrdqaakae
     3961 dlilkaltkt qqwvflqnch latsfmprlc tivesfnspn vtidpefrlw lssksyssfp
     4021 ipvlkkglki avespqglks nllqtfgctg sgevteeife npdcgqwwkk llfslcffna
     4081 vinerknygi lgwniaykfn ssdlgvaikv lenslrgqps iswqalryli geviyggrvi
     4141 dnwdkrclkt llykfcnpev lkddfsfssd giclpvpgsa sikdyihiiq slpdddlpev
     4201 lgihpeairs cwetqgekfi enliamqpkt ttanlmirpe qskdelvmei lsdllkrlpl
     4261 tvekeeiavg tpstlksmms ssiweslskn lkdhdplihc vlltflkqei krfdkllfvi
     4321 hkslkdlqla ikgeiiltqe leeifnsfln mrvptlwqkh ayrsckplss widdliqrln
     4381 ffntwakvay taiqrrymrf vtvwkqsips tsqkckhped sennffegfp srywlpafff
     4441 pqaflaavlq dygrsrgiav daltfthhvi snttdkdekf svfmpkklni vrrafkgsas
     4501 shtgvyifgl fiegarwnre qkiledslpl emccdfpdiy flptkistkt pnasnqtdse
     4561 lyafecpvyq tpersrilat tglptnflts vylstkkpps hwitmrvall ceknek
//
LOCUS       XP_054191045             470 aa            linear   PRI 20-MAR-2023
DEFINITION  estrogen-related receptor gamma isoform X3 [Homo sapiens].
ACCESSION   XP_054191045
VERSION     XP_054191045.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335070.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..470
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..470
                     /product="estrogen-related receptor gamma isoform X3"
                     /calculated_mol_wt=52332
     CDS             1..470
                     /gene="ESRRG"
                     /gene_synonym="ERR-gamma; ERR3; ERRg; ERRgamma; NR3B3"
                     /coded_by="XM_054335070.1:539..1951"
                     /db_xref="GeneID:2104"
                     /db_xref="HGNC:HGNC:3474"
                     /db_xref="MIM:602969"
ORIGIN      
        1 mwrecdwglg avksdlacvp sakrllcrms nkdrhidssc ssfiktepss pasltdsvnh
       61 hspggssdas gsysstmngh qngldspply psapilggsg pvrklyddcs stivedpqtk
      121 ceymlnsmpk rlclvcgdia sgyhygvasc eackaffkrt iqgnieyscp atneceitkr
      181 rrkscqacrf mkclkvgmlk egvrldrvrg grqkykrrid aenspylnpq lvqpakkpll
      241 wsdpadnkiv shllvaepek iyampdptvp dsdikalttl cdladrelvv iigwakhipg
      301 fstlsladqm sllqsawmei lilgvvyrsl sfedelvyad dyimdedqsk laglldlnna
      361 ilqlvkkyks mklekeefvt lkaialansd smhiedveav qklqdvlhea lqdyeagqhm
      421 edprragkml mtlpllrqts tkavqhfyni klegkvpmhk lflemleakv
//
LOCUS       XP_054191887             155 aa            linear   PRI 20-MAR-2023
DEFINITION  low density lipoprotein receptor adapter protein 1 isoform X13
            [Homo sapiens].
ACCESSION   XP_054191887
VERSION     XP_054191887.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335912.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..155
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..155
                     /product="low density lipoprotein receptor adapter protein
                     1 isoform X13"
                     /calculated_mol_wt=17175
     CDS             1..155
                     /gene="LDLRAP1"
                     /gene_synonym="ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4"
                     /coded_by="XM_054335912.1:94..561"
                     /db_xref="GeneID:26119"
                     /db_xref="HGNC:HGNC:18640"
                     /db_xref="MIM:605747"
ORIGIN      
        1 mdalksagra lirspslakq swggggrhrk lpenwtdtre tllegmlfsl kylgmtlveq
       61 pkgeelsaaa ikrivataka sgkklqkvtl kvsprgiilt dnltnqlien vsiyrisyct
      121 adkmhdkvfa yiaqsqhnqs lechaflctk rkmrs
//
LOCUS       XP_054194284             279 aa            linear   PRI 20-MAR-2023
DEFINITION  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1
            isoform X1 [Homo sapiens].
ACCESSION   XP_054194284
VERSION     XP_054194284.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338309.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..279
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..279
                     /product="nicotinamide/nicotinic acid mononucleotide
                     adenylyltransferase 1 isoform X1"
                     /calculated_mol_wt=31801
     CDS             1..279
                     /gene="NMNAT1"
                     /gene_synonym="LCA9; NMNAT; PNAT1; SHILCA"
                     /coded_by="XM_054338309.1:336..1175"
                     /db_xref="GeneID:64802"
                     /db_xref="HGNC:HGNC:17877"
                     /db_xref="MIM:608700"
ORIGIN      
        1 mensektevv llacgsfnpi tnmhlrlfel akdymngtgr ytvvkgiisp vgdaykkkgl
       61 ipayhrvima elatknskwv evdtweslqk ewketlkvlr hhqekleasd cdhqqnsptl
      121 erpgrkrkwt etqdssqkks lepktkavpk vkllcgadll esfavpnlwk seditqivan
      181 yglicvtrag ndaqkfiyes dvlwkhrsni hvvnewiand isstkirral rrgqsirylv
      241 pdlvqeyiek hnlyssesed rnagvilapl qrntaeakt
//
LOCUS       XP_054194693             496 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 13 isoform X6 [Homo sapiens].
ACCESSION   XP_054194693
VERSION     XP_054194693.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338718.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..496
                     /product="tetratricopeptide repeat protein 13 isoform X6"
                     /calculated_mol_wt=55534
     CDS             1..496
                     /gene="TTC13"
                     /coded_by="XM_054338718.1:32..1522"
                     /db_xref="GeneID:79573"
                     /db_xref="HGNC:HGNC:26204"
ORIGIN      
        1 mapagccccc cfwggavaaa gaarrvllll llgvlsaglr pgalatehys plsllkqelq
       61 hrqqqeapag gggcspqsgd wgdqysaecg essflnfhds dcepkgsspc dsllslntek
      121 ilsqaksiae qkrfpfatdn dstneelaia yvligsglyd eairhfstml qeepdlvsai
      181 ygrgiaygkk glhdiknael alfelsrvit lepdrpevfe qraeilsplg rineavndlt
      241 kaiqlqpsar lyrhrgtlyf isedyatahe dfqqslelnk nqpiamlykg ltffhrgllk
      301 eaiesfkeal kqkvdfiday kslgqayrel gnfeaatesf qkalllnqnh vqtlqlrgmm
      361 lyhhgslqea lknfkrclql epynevcqym kglshvamgq fyegikaqtk vmlndplpgq
      421 kaspeylkvk ylreysrylh ahldtpltey nidvdlpgsf kdhwaknlpf liedyeeqpg
      481 lqphinffea lvkqmy
//
LOCUS       XP_054195686             802 aa            linear   PRI 20-MAR-2023
DEFINITION  GDH/6PGL endoplasmic bifunctional protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_054195686
VERSION     XP_054195686.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339711.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..802
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..802
                     /product="GDH/6PGL endoplasmic bifunctional protein
                     isoform X1"
                     /calculated_mol_wt=89970
     CDS             1..802
                     /gene="H6PD"
                     /gene_synonym="CORTRD1; G6PDH; GDH; H6PDH"
                     /coded_by="XM_054339711.1:475..2883"
                     /db_xref="GeneID:9563"
                     /db_xref="HGNC:HGNC:4795"
                     /db_xref="MIM:138090"
ORIGIN      
        1 mlaepfnwhp gmwnmlivam clallgclqa qelqghvsii llgatgdlak kylwqglfql
       61 yldeagrghs fsfhgaalta pkqgqelmak aleslscpkd mapshcaehk dqflqlsqyr
      121 qlktaedyqa lnkdieaqlq haglreagri fyfsvppfay eaiarninss crpgpgawlr
      181 vvlekpfghd hfsaqqlate lgtffqeeem yrvdhylgkq avaqilpfrd qnrkaldglw
      241 nrhhvervei imketvdaeg rtsfyeeygv irdvlqnhlt evltlvamel phnvssaeav
      301 lrhklqvfqa lrglqrgsav vgqyqsyseq vrrelqkpds fhsltptfaa vlvhidnlrw
      361 egvpfilmsg kaldervgya rilfknqacc vqsekhwaaa qsqclprqlv fhighgdlgs
      421 pavlvsrnlf rpslpsswke megppglrlf gsplsdyyay spvqerdahs vllshifhgr
      481 knffittenl laswnfwtpl leslahkapr lypggaengr lldfefssgr lffsqqqpeq
      541 lvpgpgpapm psdfqvlrak yresplvsaw seelisklan dieatavrav rrfgqfhlal
      601 sggsspvalf qqlatahygf pwahthlwlv dercvplsdp esnfqglqah llqhvripyy
      661 nihpmpvhlq qrlcaeedqg aqiyareisa lvanssfdlv llgmgadght aslfpqsptg
      721 ldgeqlvvlt tspsqphrrm slslplinra kkvavlvmgr mkreittlvs rvghepkkwp
      781 isgvlphsgq lvwymdydaf lg
//
LOCUS       XP_054196002             202 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC128966737 isoform X1 [Homo sapiens].
ACCESSION   XP_054196002
VERSION     XP_054196002.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340027.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..202
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..202
                     /product="uncharacterized protein LOC128966737 isoform X1"
                     /calculated_mol_wt=22209
     CDS             1..202
                     /gene="LOC128966737"
                     /coded_by="XM_054340027.1:750..1358"
                     /db_xref="GeneID:128966737"
ORIGIN      
        1 mrfsaklkry tlkpmvvgtg vpgslctqhp fsqkmkllgr ilqarwmgsl rhrgmpclaq
       61 gqtrwlraer gprpltaelg sepalhaaar vtlqiteits ipaqipptps isltvrnkgl
      121 amahkthsdh aaghphlsse sdtllppvvw lcslmeqkpt dpagrhlyyn qglpdlrepk
      181 esvekrevph llspthkgcl vl
//
LOCUS       XP_054221660             230 aa            linear   PRI 20-MAR-2023
DEFINITION  Kv channel-interacting protein 2 isoform X5 [Homo sapiens].
ACCESSION   XP_054221660
VERSION     XP_054221660.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365685.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..230
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..230
                     /product="Kv channel-interacting protein 2 isoform X5"
                     /calculated_mol_wt=26494
     CDS             1..230
                     /gene="KCNIP2"
                     /gene_synonym="KCHIP2"
                     /coded_by="XM_054365685.1:55..747"
                     /db_xref="GeneID:30819"
                     /db_xref="HGNC:HGNC:15522"
                     /db_xref="MIM:604661"
ORIGIN      
        1 mnleglemva vlvvlalfvk vleqfglfep vsledsvdde felstvchrp egleqlqeqt
       61 kftrkelqvl yrgfknecps givneenfkq iysqffpqgd sstyatflfn afdtnhdgsv
      121 sfedfvagls vilrgtvddr lnwafnlydl nkdgcitkee mldimksiyd mmgkytypal
      181 reeaprehve sffqkmdrnk dgvvtieefi escqkdenim rsmqlfdnvi
//
LOCUS       XP_054224745             193 aa            linear   PRI 20-MAR-2023
DEFINITION  rhombotin-1 isoform X1 [Homo sapiens].
ACCESSION   XP_054224745
VERSION     XP_054224745.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368770.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..193
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..193
                     /product="rhombotin-1 isoform X1"
                     /calculated_mol_wt=21700
     CDS             1..193
                     /gene="LMO1"
                     /gene_synonym="RBTN1; RHOM1; TTG1"
                     /coded_by="XM_054368770.1:1453..2034"
                     /db_xref="GeneID:4004"
                     /db_xref="HGNC:HGNC:6641"
                     /db_xref="MIM:186921"
ORIGIN      
        1 mpsgvarrwp qwlpageprg rawsdlelge vdvlgwktgl ggahwgvpml svqpkgkqkg
       61 cagcnrkikd ryllkaldky whedclkcac cdcrlgevgs tlytkanlil crrdylrlfg
      121 ttgncaacsk lipafemvmr ardnvyhldc facqlcnqrf cvgdkfflkn nmilcqmdye
      181 egqlngtfes qvq
//
LOCUS       XP_054225379            1267 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA2-interacting transcriptional repressor EMSY isoform X18 [Homo
            sapiens].
ACCESSION   XP_054225379
VERSION     XP_054225379.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369404.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1267
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1267
                     /product="BRCA2-interacting transcriptional repressor EMSY
                     isoform X18"
                     /calculated_mol_wt=135211
     CDS             1..1267
                     /gene="EMSY"
                     /gene_synonym="C11orf30; GL002"
                     /coded_by="XM_054369404.1:151..3954"
                     /db_xref="GeneID:56946"
                     /db_xref="HGNC:HGNC:18071"
                     /db_xref="MIM:608574"
ORIGIN      
        1 mpvvwptlld lsrdeckril rkleleayag visalraqgd ltkekkdllg elskvlsist
       61 erhraevrra vnderlttia hnmsgpnsss ewsiegrrlv plmprlvpqt aftvtanava
      121 naaiqhnasl pvpaetgske vvcysytstt stptstpvps gsiatvkspr paspasnvvv
      181 lpsgstvyvk svscsdedek prkrrrtnss ssspvvlkev pkavvpvskt itvpvsgspk
      241 msnimqsian slpphmspvk itftkpstqt tntttqkvii vttspsstfv pnilskshny
      301 aavtklvpts viasttqkpp vvitasqssl vsnsssgsss stpspipntv avtavvsstp
      361 svvmstvaqg vstsaikmas trlpspkslv saptqilaqf pkqhqqspkq qlyqvqqqtq
      421 qqvaqpspvs hqqqpqqspl ppgikptiqi kqesgvkiit qqvqpskilp kpvtatlpts
      481 snspimvvss ngaimttklv ttptgtqaty trptvspsig rmaatpgaat yvkttsgsii
      541 tvvpkslatl ggkiissniv sgtttkitti pmtskpnviv vqkttgkgtt iqglpgknvv
      601 ttllnaggek tiqtvptgak pailtatrpi tkmivtqpkg igstvqpaak iiptkivygq
      661 qgktqvlikp kpvtfqatvv seqtrqlvte tlqqasrvae agnssiqegk eepqnytdss
      721 ssstessqss qvkekleskp rqptidlsqm avpiqmtqek rhspespsia vveselvaey
      781 ittertdegt evafpllvsh rsqpqqpsqp qrtllqhvaq sqtatqtsvv vksipasspg
      841 aithimqqal sshtaftkhs eelgteegev eemdtldpqt glfyrsaltq sqsakqqkls
      901 qppleqtqlq vktlqcfqtk qkqtihlqad qlqhklpqmp qlsirhqklt plqqeqaqpk
      961 pdvqhtqhpm vakdrqlptl maqppqtvvq vlavkttqql pklqqapnqp kiyvqpqtpq
     1021 sqmslpasse kqtasqveqp iitqgssvtk itfegrqppt vtkitggssv pkltspvtsi
     1081 spiqasekta vsdilkmslm eaqidtnveh mivdppkkal atsmltgeag slpsthmvva
     1141 gmanstpqqq kcrescssps tvgsslttrk idppavpatg qfmriqnvgq kkaeespaei
     1201 iiqaipqyai pchsssnvvv epsgllelnn ftsqqlddee tameqdidss tedgtepsps
     1261 qssaers
//
LOCUS       XP_054227893            2192 aa            linear   PRI 20-MAR-2023
DEFINITION  acetyl-CoA carboxylase 2 isoform X5 [Homo sapiens].
ACCESSION   XP_054227893
VERSION     XP_054227893.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371918.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2192
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2192
                     /product="acetyl-CoA carboxylase 2 isoform X5"
                     /calculated_mol_wt=245621
     CDS             1..2192
                     /gene="ACACB"
                     /gene_synonym="ACACbeta; ACC-beta; ACC2; ACCB; ACCbeta;
                     HACC275"
                     /coded_by="XM_054371918.1:1756..8334"
                     /db_xref="GeneID:32"
                     /db_xref="HGNC:HGNC:85"
                     /db_xref="MIM:601557"
ORIGIN      
        1 mvlllclscl ifscltfswl kiwgkmtdsk pitksksean lipsqepfpa sdnsgetpqr
       61 ngeghtlpkt psqaepashk gpkdagrrrn slppshqkpp rnplsssdaa pspelqangt
      121 gtqgleatdt nglsssarpq gqqagspske dkkqanikrq lmtnfilgsf ddyssdedsv
      181 agssrestrk gsraslgals leaylttgea etrvptmrps msglhlvkrg rehkkldlhr
      241 dftvaspaef vtrfggdrvi ekvlianngi aavkcmrsir rwayemfrne rairfvvmvt
      301 pedlkanaey ikmadhyvpv pggpnnnnya nvelivdiak ripvqavwag wghasenpkl
      361 pellckngva flgppseamw algdkiastv vaqtlqvptl pwsgsgltve wteddlqqgk
      421 risvpedvyd kgcvkdvdeg leaaerigfp lmikaseggg gkgirkaesa edfpilfrqv
      481 qseipgspif lmklaqharh levqiladqy gnavslfgrd csiqrrhqki veeapatiap
      541 laifefmeqc airlaktvgy vsagtveyly sqdgsfhfle lnprlqvehp ctemiadvnl
      601 paaqlqiamg vplhrlkdir llygespwgv tpisfetpsn pplarghvia aritsenpde
      661 gfkpssgtvq elnfrssknv wgyfsvaatg glhefadsqf ghcfswgenr eeaisnmvva
      721 lkelsirgdf rttveylinl letesfqnnd idtgwldyli aekvqaekpd imlgvvcgal
      781 nvadamfrtc mtdflhsler gqvlpadsll nlvdveliyg gvkyilkvar qsltmfvlim
      841 ngchieidah rlndggllls yngnsyttym keevdsyrit ignktcvfek endptvlrsp
      901 sagkltqytv edgghveags syaemevmkm imtlnvqerg rvkyikrpga vleagcvvar
      961 lelddpskvh paepftgelp aqqtlpilge klhqvfhsvl enltnvmsgf clpepvfsik
     1021 lkewvqklmm tlrhpslpll elqeimtsva gripapveks vrrvmaqyas nitsvlcqfp
     1081 sqqiatildc haatlqrkad revffintqs ivqlvqryrs girgymktvv ldllrrylrv
     1141 ehhfqqahyd kcvinlreqf kpdmsqvldc ifshaqvakk nqlvimlide lcgpdpslsd
     1201 elisilnelt qlsksehckv alrarqilia shlpsyelrh nqvesiflsa idmyghqfcp
     1261 enlkklilse ttifdvlptf fyhankvvcm aslevyvrrg yiayelnslq hrqlpdgtcv
     1321 vefqfmlpss hpnrmtvpis itnpdllrhs telfmdsgfs plcqrmgamv afrrfedftr
     1381 nfdeviscfa nvpkdtplfs eartslysed dckslreepi hilnvsiqca dhledealvp
     1441 ilrtfvqskk nilvdyglrr itfliaqeke fpkfftfrar defaedriyr hlepalafql
     1501 elnrmrnfdl tavpcanhkm hlylgaakvk egvevtdhrf firaiirhsd litkeasfey
     1561 lqnegerlll eamdelevaf nntsvrtdcn hiflnfvptv imdpfkiees vrymvmrygs
     1621 rlwklrvlqa evkinirqtt tgsavpirlf itnesgyyld islykevtds rsgnimfhsf
     1681 gnkqgpqhgm lintpyvtkd llqakrfqaq tlgttyiydf pemfrqalfk lwgspdkypk
     1741 diltytelvl dsqgqlvemn rlpggnevgm vafkmrfktq eypegrdviv ignditfrig
     1801 sfgpgedlly lraskmarae gipkiyvaan sgarigmaee ikhmfhvawv dpedphkgfk
     1861 ylyltpqdyt risslnsvhc khieeggesr ymitdiigkd dglgvenlrg sgmiagessl
     1921 ayeeivtisl vtcraigiga ylvrlgqrvi qvenshiilt gasalnkvlg revytsnnql
     1981 ggvqimhyng vshitvpddf egvytilewl sympkdnhsp vpiitpidpi dreieflpsr
     2041 apydprwmla grphptlkgt wqsgffdhgs fkeimapwaq tvvtgrarlg gipvgviave
     2101 trtvevavpa dpanldseak iiqqagqvwf pdsayktaqa ikdfnreklp lmifanwrgf
     2161 sggmkgclgt wrdvswwkir amlpmhigeg sv
//
LOCUS       XP_054229507            1279 aa            linear   PRI 20-MAR-2023
DEFINITION  lysine-specific demethylase 2B isoform X30 [Homo sapiens].
ACCESSION   XP_054229507
VERSION     XP_054229507.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373532.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1279
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1279
                     /product="lysine-specific demethylase 2B isoform X30"
                     /calculated_mol_wt=145667
     CDS             1..1279
                     /gene="KDM2B"
                     /gene_synonym="CXXC2; Fbl10; FBXL10; JHDM1B; PCCX2"
                     /coded_by="XM_054373532.1:251..4090"
                     /db_xref="GeneID:84678"
                     /db_xref="HGNC:HGNC:13610"
                     /db_xref="MIM:609078"
ORIGIN      
        1 mpdpdftvrd vkllvgsrrl vdvmdvntqk gtemsmsqfv ryyetpeaqr dklynvisle
       61 fshtklehlv krptvvdlvd wvdnmwpqhl kekqteatna iaemkypkvk kyclmsvkgc
      121 ftdfhidfgg tsvwyhvfrg gkifwlippt lhnlalyeew vlsgkqsdif lgdrvercqr
      181 ielkqgytff ipsgwihavy tpvdslvfgg nilhsfnvpm qlriyeiedr trvqpkfryp
      241 fyyemcwyvl eryvycvtqr shltqeyqre smlidaprkp sidgfssdsw lemeeeacdq
      301 qpqeeeekde egegrdrapk pptdgstspt stpsedqeal gkkpkapalr flkrtlsnes
      361 eesvksttla vdypktptgs patevsakwt hltefelkgl kalveklesl penkkcvpeg
      421 iedpqalleg vknvlkehad ddpslaitgv pvvtwpkktp knravgrpkg klgpasavkl
      481 aanrttagar rrrtrcrkce aclrtecgec hfckdmkkfg gpgrmkqsci mrqciapvlp
      541 htavclvcge agkedtveee egkfnlmlme csicneiihp gclkikeseg vvndelpncw
      601 ecpkcnhagk tgkqkrgpgf kyasnlpgsl lkeqkmnrdn kegqepakrr seceeaprrr
      661 sdehskkvpp dgllrrksdd vhlrkkrkye kpqelsgrkr asslqtspgs sshlsprppl
      721 gsslspwwrs sltyfqqqlk pgkedklfrk krrswknaed rmalankplr rfkqepedel
      781 peappktres dhsrssspta gpstegaegp eekkkvkmrr krrlpnkels relskelnhe
      841 iqrtenslan enqqpiksep esegeepkrp pgicerphrf skglngtpre lrhqlgpslr
      901 spprvisrpp psvsppkciq merhvirppp ispppdslpl ddgaahvmhr evwmavfsyl
      961 shqdlcvcmr vcrtwnrwcc dkrlwtridl nhcksitplm lsgiirrqpv sldlswtnis
     1021 kkqlswlinr lpglrdlvls gcswiavsal cssscpllrt ldvqwveglk daqmrdllsp
     1081 ptdnrpgqmd nrsklrnive lrlaglditd aslrliirhm pllsklhlsy cnhvtdqsin
     1141 lltavgtttr dslteinlsd cnkvtdqcls ffkrcgnich idlryckqvt kegceqfiae
     1201 msdeesiqki npskpglhlp gsplvcfifl yflinfrnlf cmppqgkgis tynchldthl
     1261 tvlevsytdl splksvhif
//
LOCUS       XP_054232027             739 aa            linear   PRI 20-MAR-2023
DEFINITION  MAP/microtubule affinity-regulating kinase 3 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054232027
VERSION     XP_054232027.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376052.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..739
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..739
                     /product="MAP/microtubule affinity-regulating kinase 3
                     isoform X1"
                     /calculated_mol_wt=82801
     CDS             1..739
                     /gene="MARK3"
                     /gene_synonym="CTAK1; KP78; Par-1a; PAR1A; VIPB"
                     /coded_by="XM_054376052.1:100..2319"
                     /db_xref="GeneID:4140"
                     /db_xref="HGNC:HGNC:6897"
                     /db_xref="MIM:602678"
ORIGIN      
        1 mwehtshgdg rqevtsrtsr sgarcrnsia scadeqphig nyrllktigk gnfakvklar
       61 hiltgrevai kiidktqlnp tslqklfrev rimkilnhpn ivklfeviet ektlylimey
      121 asggevfdyl vahgrmkeke arskfrqivs avqychqkri vhrdlkaenl lldadmniki
      181 adfgfsneft vggkldtfcg sppyaapelf qgkkydgpev dvwslgvily tlvsgslpfd
      241 gqnlkelrer vlrgkyripf ymstdcenll krflvlnpik rgtleqimkd rwinagheed
      301 elkpfvepel disdqkridi mvgmgysqee iqeslskmky deitatylll grksseldas
      361 dsssssnlsl akvrpssdln nstgqsphhk vqrsvsssqk qrrysdhagp aipsvvaypk
      421 rsqtstadsd lkedgissrk ssgsavggkg iapaspmlgn asnpnkadip erkksstvps
      481 sntasggmtr rntyvcsert tadrhsviqn gkenstipdq rtpvasthsi ssaatpdrir
      541 fprgtasrst fhgqprerrt atyngppasp slsheatpls qtrsrgstnl fskltskltr
      601 rnmsfrfikr lpteyerngr yegssrnvsa eqkdenkeak prslrftwsm kttssmdpgd
      661 mmreirkvld anncdyeqre rfllfcvhgd ghaenlvqwe mevcklprls lngvrfkris
      721 gtsiafknia skianelkl
//
LOCUS       XP_054235774            1451 aa            linear   PRI 20-MAR-2023
DEFINITION  WD repeat-containing protein 90 isoform X47 [Homo sapiens].
ACCESSION   XP_054235774
VERSION     XP_054235774.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379799.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1451
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1451
                     /product="WD repeat-containing protein 90 isoform X47"
                     /calculated_mol_wt=155064
     CDS             1..1451
                     /gene="WDR90"
                     /gene_synonym="C16orf15; C16orf16; C16orf17; C16orf18;
                     C16orf19; POC16"
                     /coded_by="XM_054379799.1:53..4408"
                     /db_xref="GeneID:197335"
                     /db_xref="HGNC:HGNC:26960"
                     /db_xref="MIM:618290"
ORIGIN      
        1 marawqhpfl nvfrhfrvde wkrsakqgdv avvtdktlkg avyrirgsvs aanyiqlpks
       61 stqslgltgr ylyvlfrplp skhfvihldv sskdnqvirv sfsnlfkefk statwlqfpl
      121 vleartpqrd lvglapsgar wtclqldlqd vllvylnrcy ghlksirlca sllvrnlyts
      181 dlcfepaisg aqwaklpvtp mpremafpvp kgeswhdryi hvrfpseslk vpskpieksc
      241 sppeavllgp gpqplpcpva sskpvrfsvs pvvqtpspta sgraalaprp fpevslsqer
      301 sdasnadgpg fhslepwaql easdihtaaa gthvlthesa evpvartgsc egflpdpvlr
      361 lkgvigfggh gtrqalwtpd gaavvypcha vivvllvdtg eqrfflghtd kvsalaldgs
      421 ssllasaqar apsvmrlwdf qtgrclclfr spmhvvcsls fsdsgallcg vgkdhhgrtm
      481 vvawgtgqvg lggevvvlak ahtdfdvqaf rvtffdetrm ascgqgsvrl wrlrggvlrs
      541 cpvdlgehha lqftdlafkq ardgcpepsa amlfvcsrsg hileidcqrm vvrharrllp
      601 trtpggphpq kqtfssgpgi aisslsvspa mcavgsedgf lrlwpldfss vlleaehegp
      661 vssvcvspdg lrvlsatssg hlgfldtlsr vyhmlarsht apvlalameq rrgqlatvsq
      721 drtvriwdla tlqqlydfts sedapcavtf hptrptffcg fssgavrsfs leaaevlveh
      781 tchrgavtgl tatpdgrllf sscsqgslaq yscadpqwhv lrvaadmvcp dapaspsala
      841 vsrdgrllaf vgpsrctvtv mgsasldell rvdigtldla ssrldsamav cfgpaalghl
      901 lvstssnrvv vldavsgrii relpgvhpep cpsltlseda rflliaagrt ikvwdyatqa
      961 spgpqvyigh sepvqavafs pdqqqvlsag davflwdvla ptesdqsfpg appacktgpg
     1021 agpledaasr aselprqqvp kpcqaspprl gvcarppegg dgardtrnsg aprttylasc
     1081 kaftparvsc sphsakgtcp ppasggwlrl kavvgysgng ranmvwrpdt gffaytcgrl
     1141 vvvedlhsga qqhwsghsae istlalshsa qvlasasgrs sttahcqirv wdvsgglcqh
     1201 lifphsttvl alafspddrl lvtlgdhdgr tlalwgtaty dlvsstrlpe pvhgvafnpw
     1261 dageltcvgq gtvtfwllqq rgadislqvr repvpeavga geltslcyga ppllycgtss
     1321 gqvcvwdtra grcflswead dggiglllfs gsrlvsgsst grlrlwavga vselrckgsg
     1381 arsssvfmeh elvldgavvs asfddsvdmg vvgttagtlw fvswaegtst rlisghrskk
     1441 shqsgrggsc l
//
LOCUS       XP_054169574             106 aa            linear   PRI 20-MAR-2023
DEFINITION  C-C motif chemokine 22 isoform X1 [Homo sapiens].
ACCESSION   XP_054169574
VERSION     XP_054169574.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313599.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..106
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..106
                     /product="C-C motif chemokine 22 isoform X1"
                     /calculated_mol_wt=11862
     CDS             1..106
                     /gene="CCL22"
                     /gene_synonym="A-152E5.1; ABCD-1; DC/B-CK; MDC; SCYA22;
                     STCP-1"
                     /coded_by="XM_054313599.1:72..392"
                     /db_xref="GeneID:6367"
                     /db_xref="HGNC:HGNC:10621"
                     /db_xref="MIM:602957"
ORIGIN      
        1 mdmtpglrht gqsmarlqta llvvlvllav alqateagpy ganmedsvcc rdyvryrlpl
       61 rvvkhfywts dscprpgvvl ltfrdkeica dprvpwvkmi lnklsq
//
LOCUS       XP_054171055             401 aa            linear   PRI 20-MAR-2023
DEFINITION  2',3'-cyclic-nucleotide 3'-phosphodiesterase isoform X1 [Homo
            sapiens].
ACCESSION   XP_054171055
VERSION     XP_054171055.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315080.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..401
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..401
                     /product="2',3'-cyclic-nucleotide 3'-phosphodiesterase
                     isoform X1"
                     /calculated_mol_wt=44968
     CDS             1..401
                     /gene="CNP"
                     /gene_synonym="CNP1; HLD20"
                     /coded_by="XM_054315080.1:140..1345"
                     /db_xref="GeneID:1267"
                     /db_xref="HGNC:HGNC:2158"
                     /db_xref="MIM:123830"
ORIGIN      
        1 msssgakdkp elqfpflqde dtvatlleck tlfilrglpg sgkstlarvi vdkyrdgtkm
       61 vsadaykitp gargafseey krldedlaay crrrdirilv lddtnherer leqlfemadq
      121 yqyqvvlvep ktawrldcaq lkeknqwqls addlkklkpg lekdflplyf gwfltkksse
      181 tlrkagqvfl eelgnhkafk kelrqfvpgd eprekmdlvt yfgkrppgvl hcttkfcdyg
      241 kapgaeeyaq qdvlkksysk aftltisalf vtpkttgarv elseqqlqlw psdvdklspt
      301 dnlprgsrah itlgcaadve avqtgldlle ilrqekggsr geevgelsrg klyslgngrw
      361 mltlaknmev raiftgyygk gkpvptqgsr kggalqscti i
//
LOCUS       XP_054171733             549 aa            linear   PRI 20-MAR-2023
DEFINITION  hexosaminidase D isoform X2 [Homo sapiens].
ACCESSION   XP_054171733
VERSION     XP_054171733.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315758.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..549
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..549
                     /product="hexosaminidase D isoform X2"
                     /calculated_mol_wt=59366
     CDS             1..549
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /coded_by="XM_054315758.1:57..1706"
                     /db_xref="GeneID:284004"
                     /db_xref="HGNC:HGNC:26307"
                     /db_xref="MIM:616864"
ORIGIN      
        1 mtsfscrglk seplledvle hhlpkfwssp seikeilhla glnelevipl vqtfghmefv
       61 lkhtafahlr evgsfpctln pheaeslalv gamidqvlel hpgaqrlhig cdevyylgeg
      121 easrrwlqqe qnstgklcls hmravasgvk arrpsvtplv wddmlrdlpe dqlaasgvpq
      181 lvepvlwdyt adldvhgkvl lmqkyrrcgf pqlwaasafk gatgpsqavp pvehhlrnhv
      241 qwlqvagsgp tdslqgiilt gwqrydhysv lcellpagvp slaaclqlll rggfdedvka
      301 kvenllgiss lektdpvrqa pcsppcpllp lpfprpwrql fsaglsagrg papslaatsl
      361 plshksasic aalwmrcwra tgmslagsap ttasgssstr swfstsspqr saswhsgaps
      421 crswrlpcsw lstrmpwrsg wrktctpacs gcklccrtsa rclpprchpp alagtllrtp
      481 egrahargll leaggalhcq mawairahvg vvpsgpavsc phsvpegpgq plgerlente
      541 gsstgrpal
//
LOCUS       XP_054173163             493 aa            linear   PRI 20-MAR-2023
DEFINITION  UNC93-like protein MFSD11 isoform X1 [Homo sapiens].
ACCESSION   XP_054173163
VERSION     XP_054173163.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317188.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..493
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..493
                     /product="UNC93-like protein MFSD11 isoform X1"
                     /calculated_mol_wt=53721
     CDS             1..493
                     /gene="MFSD11"
                     /gene_synonym="ET"
                     /coded_by="XM_054317188.1:530..2011"
                     /db_xref="GeneID:79157"
                     /db_xref="HGNC:HGNC:25458"
ORIGIN      
        1 mspeskklfn iiilgvafmf mftafqtcgn vaqtvirsln rtdfhgsgyt smaiiygvfs
       61 asnlitpsvv aivgpqlsmf asglfysmyi avfiqpfpws fytasvfigi aaavlwtaqg
      121 ncltinsdeh sigrnsgifw allqsslffg nlyiyfawqg ktqisesdrr tvfialtvis
      181 lvgtvlffli rkpdsenvlg edessddqdm evnesaqnnl tkavdafkks fklcvtkeml
      241 llsittaytg leltffsgvy gtcigatnkf gaeeksligl sgifigigei lggslfglls
      301 knnrfgrnpv vllgilvhfi afyliflnmp gdapiapvkg tdssayikss kevailcsfl
      361 lglgdscfnt qllsilgfly sedsapafai fkfvqflwvg nlrmaelspe rlsrlqsmsl
      421 qaavkglals prlecsgtni ahcnlqllas sgpptsafrv awdhkripph sgnffvffvk
      481 tgfhhaarlv lnt
//
LOCUS       XP_054173708            1195 aa            linear   PRI 20-MAR-2023
DEFINITION  myotubularin-related protein 4 isoform X2 [Homo sapiens].
ACCESSION   XP_054173708
VERSION     XP_054173708.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317733.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1195
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1195
                     /product="myotubularin-related protein 4 isoform X2"
                     /calculated_mol_wt=133167
     CDS             1..1195
                     /gene="MTMR4"
                     /gene_synonym="FYVE-DSP2; ZFYVE11"
                     /coded_by="XM_054317733.1:225..3812"
                     /db_xref="GeneID:9110"
                     /db_xref="HGNC:HGNC:7452"
                     /db_xref="MIM:603559"
ORIGIN      
        1 mgeegppsle yiqakdlfpp kelvkeeenl qvpftvlqge gveflgraad aliaisnyrl
       61 hikfkdsvin vplrmidsve srdmfqlhis ckdskvvrch fstfkqcqew lsrlsratar
      121 pakpedlfaf ayhawclglt eedqhthlcq pgehircrqe aelarmgfdv qnvwrvshin
      181 snyklcpsyp qkllvpvwit dkelenvasf rswkripvvv yrhlrngaai arcsqpeisw
      241 wgwrnaddey lvtsiakaca ldpgtratgg slstgnndts eacdadfdss ltacsggest
      301 aapqkllild arsytaavan rakgggcece eyypncevvf mgmanihair nsfqylravc
      361 sqmpdpsnwl salestkwlq hlsvmlkaav lvantvdreg rpvlvhcsdg wdrtpqival
      421 akilldpyyr tlegfqvlve sdwldfghkf gdrcghqenv edqneqcpvf lqwldsvhql
      481 lkqfpclfef neaflvklvq htysclygtf lannpcerek rniykrtcsv wallragnkn
      541 fhnflytpss dmvlhpvchv ralhlwtavy lpasspctlg eenmdlylsp vaqsqefsgr
      601 sldrlpktrs mddllsacdt sspltrtssd pnlnnhcqev rvglepwhsn pegsetsfvd
      661 sgvggpqqtv gevglppplp ssqkdylsnk pfkshkscsp sykllntavp remksntsdp
      721 eikvleetkg papdpsaqde lgrtldgige ppehcpetea vsalskvisn kcdgvcnfpe
      781 ssqnsptgtp qqaqpdsmlg vpskcvldhs lstvcnppsa acqtpldpst dflnqdpsgs
      841 vasishqeql ssvpdlthge edigkrgnnr ngqllenprf gkmplelvrk pisqsqisef
      901 sflgsnwdsf qgmvtsfpsg eatprrllsy gccskrpnsk qmratgpcfg gqwaqregvk
      961 spvcsshsng hctgpggknq mwlsshpkqv sstkpvplnc pspvpplyld ddglpfptdv
     1021 iqhrlrqiea gykqeveqlr rqvrelqmrl dirhccappa eppmdyeddf tclkesdgsd
     1081 tedfgsdhse dclseaswep vdkketevtr wvpdhmashc yncdcefwla krrhhcrncg
     1141 nvfcagcchl klpipdqqly dpvlvcnscy ehiqvsrare lmsqqlkkpi atass
//
LOCUS       XP_054174248             668 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and BTB domain-containing protein 7C isoform X1 [Homo
            sapiens].
ACCESSION   XP_054174248
VERSION     XP_054174248.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318273.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..668
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..668
                     /product="zinc finger and BTB domain-containing protein 7C
                     isoform X1"
                     /calculated_mol_wt=74139
     CDS             1..668
                     /gene="ZBTB7C"
                     /gene_synonym="APM-1; APM1; ZBTB36; ZNF857C"
                     /coded_by="XM_054318273.1:420..2426"
                     /db_xref="GeneID:201501"
                     /db_xref="HGNC:HGNC:31700"
                     /db_xref="MIM:616591"
ORIGIN      
        1 mtraalscgp tggwelsskl lcdlgqepsp swtanfllck mkgwalaenm andideligi
       61 pfpnhssevl cslneqrhdg llcdvllvvq eqeyrthrsv laacskyfkk lftagtlasq
      121 pyvyeidfvq pealaailef aytstltita gnvkhilnaa rmleiqcivn vcleimepgg
      181 dggeeddked ddddedddde edeeeeeeee edddddtedf adqenlpdpq dischqspsk
      241 tdhltekays dtprdfpdsf qagspghlgv irdfsiesll renlypkani pdrrpslspf
      301 apdffphlwp gdfgafaqlp eqpmdsgpld lviknrkike eekeelpppp pppfpndffk
      361 dmfpdlpggp lgpikaendy gaylnflsat hlgglfppwp lveerklkpk asqqcpichk
      421 vimgagklpr hmrthtgekp ymcticevrf trqdklkihm rkhtgerpyl cihcnakfvh
      481 nydlknhmri htgvrpyqce fcyksftrsd hlhrhikrqs crmarprrgr kpaawraasl
      541 lfgpggpapd kaafvmppal gevgghlgga avclpgpspa khflaapkga lslqelerqf
      601 eetqmklfgr aqleaernag gllafalaen vaaarpyfpl pdpwaaglag lpglaglnhv
      661 asmseann
//
LOCUS       XP_054175537             549 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 266 isoform X2 [Homo sapiens].
ACCESSION   XP_054175537
VERSION     XP_054175537.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319562.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..549
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..549
                     /product="zinc finger protein 266 isoform X2"
                     /calculated_mol_wt=61985
     CDS             1..549
                     /gene="ZNF266"
                     /gene_synonym="HZF1"
                     /coded_by="XM_054319562.1:1473..3122"
                     /db_xref="GeneID:10781"
                     /db_xref="HGNC:HGNC:13059"
                     /db_xref="MIM:604751"
ORIGIN      
        1 mlenyknlat vgyqlfkpsl iswleqeesr tvqrgdfqas ewkvqlktke lalqqdvlge
       61 ptssgiqmig shnggevsdv kqcgdvsseh sclkthvrtq nsentfecyl ygvdfltlhk
      121 ktstgeqrsv fsqcgkafsl npdvvcqrtc tgekafdcsd sgksfinhsh lqghlrthng
      181 eslhewkecg rgfihstdla vriqthrsek pykckecgkg frysaylnih mgthtgdnpy
      241 eckecgkaft rscqltqhrk thtgekpykc kdcgraftvs sclsqhmkih vgekpyecke
      301 cgiaftrssq ltehlkthta kdpfeckicg ksfrnsscls dhfrihtgik pykckdcgka
      361 ftqnsdltkh arthsgerpy eckecgkafa rssrlsehtr thtgekpfec vkcgkafais
      421 snlsghlrih tgekpfecle cgkafthsss lnnhmrthsa kkpftcmecg kafkfptcvn
      481 lhmrihtgek pykckqcgks fsysnsfqlh erthtgekpy eckecgkafs ssssfrnher
      541 rhaderlsa
//
LOCUS       XP_054176029             326 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA-binding death effector domain-containing protein 2 isoform X2
            [Homo sapiens].
ACCESSION   XP_054176029
VERSION     XP_054176029.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320054.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..326
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..326
                     /product="DNA-binding death effector domain-containing
                     protein 2 isoform X2"
                     /calculated_mol_wt=36048
     CDS             1..326
                     /gene="DEDD2"
                     /gene_synonym="FLAME-3; FLAME3"
                     /coded_by="XM_054320054.1:322..1302"
                     /db_xref="GeneID:162989"
                     /db_xref="HGNC:HGNC:24450"
                     /db_xref="MIM:617078"
ORIGIN      
        1 malsgstpap cweedecldy ygmlslhrmf evvggqltec elellaflld eapgaaggla
       61 rarsglelll elerrgqcde snlrllgqll rvlarhdllp hlarkrrrpv sperysygts
      121 ssskrtegsc rrrrqssssa nsqqgqwetg spptkrqrrs rgrpsggarr rrrgapaapq
      181 qqseparpss egkvtcdirl rvraeycehg paleqgvasr rpqalarqld vfgqatavlr
      241 srdlgsvvcd ikfselsyld afwgdylsga llqalrgvfl tealreavgr eavrllvsvd
      301 eadyeagrrr lllmeeeggr rpteas
//
LOCUS       XP_054177352             240 aa            linear   PRI 20-MAR-2023
DEFINITION  shiftless antiviral inhibitor of ribosomal frameshifting protein
            isoform X2 [Homo sapiens].
ACCESSION   XP_054177352
VERSION     XP_054177352.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321377.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..240
                     /product="shiftless antiviral inhibitor of ribosomal
                     frameshifting protein isoform X2"
                     /calculated_mol_wt=27393
     CDS             1..240
                     /gene="SHFL"
                     /gene_synonym="C19orf66; IRAV; RyDEN; SFL"
                     /coded_by="XM_054321377.1:102..824"
                     /db_xref="GeneID:55337"
                     /db_xref="HGNC:HGNC:25649"
                     /db_xref="MIM:616808"
ORIGIN      
        1 msqhqqacgi crqedppedm kqdrdiqava tsllpltean lrmfqraqdd lipavdrqfa
       61 csscdhvwwr rvpqrkevsr crkcrkryep vpadkmwgla efhcpkcrhn frgwaqmgsp
      121 spcygcgfpv yptrilpprw drdpdrrsth thscsaadcy nrrephvpgt scahpksrkq
      181 nhlpkvlhps nphissgstv atclsqggll edldnliled lkeeeeeeee vedeeggpre
//
LOCUS       XP_054177676              79 aa            linear   PRI 20-MAR-2023
DEFINITION  40S ribosomal protein S9 isoform X1 [Homo sapiens].
ACCESSION   XP_054177676
VERSION     XP_054177676.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321701.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..79
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..79
                     /product="40S ribosomal protein S9 isoform X1"
                     /calculated_mol_wt=9403
     CDS             1..79
                     /gene="RPS9"
                     /gene_synonym="S9; uS4"
                     /coded_by="XM_054321701.1:62..301"
                     /db_xref="GeneID:6203"
                     /db_xref="HGNC:HGNC:10442"
                     /db_xref="MIM:603631"
ORIGIN      
        1 mpvarswvcr ktyvtprrpf eksrldqelk ligeyglrnk revwrvkftl akirkaarel
       61 ltldekdprr lfegsasrw
//
LOCUS       XP_054178699             618 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 254 isoform X1 [Homo sapiens].
ACCESSION   XP_054178699
VERSION     XP_054178699.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322724.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..618
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..618
                     /product="zinc finger protein 254 isoform X1"
                     /calculated_mol_wt=72232
     CDS             1..618
                     /gene="ZNF254"
                     /gene_synonym="BMZF-5; HD-ZNF1; ZNF539; ZNF91L"
                     /coded_by="XM_054322724.1:2467..4323"
                     /db_xref="GeneID:9534"
                     /db_xref="HGNC:HGNC:13047"
                     /db_xref="MIM:604768"
ORIGIN      
        1 mlenyrnlaf lgiavskpdl itcleqgkep wnmkrhemvd eppgmcphfa qdlwpeqgme
       61 dsfqkailrr ygkyghenlq lrkgcksvde ykvnkegyng lnqcfttaqs kvfqcdkylk
      121 vfykflnsnr pkirhtekks fkckkrvklf cmlshktqhk siyhreksyk ckecgktfnw
      181 sstltnhrki yteekpykce eynkspkqls tlttheiiha geklykceec geafnrssnl
      241 tthkiihtge kpykceecgk afiwsstlte hkkihtrkkp ykceecgkaf iwsstltrhk
      301 rmhtgekpyk ceecgkafsq sstltthkii htgekrykcl ecgkafkqls tltthkiihv
      361 geklykceec gkgfnrssnl tthkiihtge kpykceecgk afiwsstltk hkrihtrekp
      421 ykceecgkaf iwsstltrhk rmhtgekpyk ceecgksfsq sstltthkii htgekpykce
      481 ecgkafnwss tltkhkiiht eekpykcekc gkafkqssil tnhkrihtge kpykceecgk
      541 sfnrsstftk hkvihtgvkp ykceecgkaf fwsstltkhk rihtgeqpyk wekfgkafnr
      601 sshlttdkit hwreilqv
//
LOCUS       XP_054200285             302 aa            linear   PRI 20-MAR-2023
DEFINITION  Krueppel-like factor 7 isoform X1 [Homo sapiens].
ACCESSION   XP_054200285
VERSION     XP_054200285.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344310.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..302
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..302
                     /product="Krueppel-like factor 7 isoform X1"
                     /calculated_mol_wt=33231
     CDS             1..302
                     /gene="KLF7"
                     /gene_synonym="UKLF"
                     /coded_by="XM_054344310.1:8609..9517"
                     /db_xref="GeneID:8609"
                     /db_xref="HGNC:HGNC:6350"
                     /db_xref="MIM:604865"
ORIGIN      
        1 mdvlasysif qelqlvhdtg yfsalpslee twqqtclele rylqteprri setfgedldc
       61 flhaspppci eesfrrldpl llpveaaice kssavdills rdkllsetcl slqpasssld
      121 sytavnqaql navtsltpps spelsrhlvk tsqtlsavdg tvtlklvakk aalssvkvgg
      181 vataaaavta agavksgqsd sdqgglgaea cpenkkrvhr cqfngcrkvy tksshlkahq
      241 rthtgekpyk cswegcewrf arsdeltrhy rkhtgakpfk cnhcdrcfsr sdhlalhmkr
      301 hi
//
LOCUS       XP_054179633             234 aa            linear   PRI 20-MAR-2023
DEFINITION  threonine aspartase 1 isoform X9 [Homo sapiens].
ACCESSION   XP_054179633
VERSION     XP_054179633.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323658.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..234
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..234
                     /product="threonine aspartase 1 isoform X9"
                     /calculated_mol_wt=24845
     CDS             1..234
                     /gene="TASP1"
                     /gene_synonym="C20orf13; dJ585I14.2; SULEHS"
                     /coded_by="XM_054323658.1:159..863"
                     /db_xref="GeneID:55617"
                     /db_xref="HGNC:HGNC:15859"
                     /db_xref="MIM:608270"
ORIGIN      
        1 mttrfslaaf krnkrklela ervdtdfmql kkrrqsseke ndsgtldtvg avvvdhegnv
       61 aaavssggla lkhpgrvgqa alygcgcwae ntgahnpyst avstsgcgeh lvrtilarec
      121 shalqaedah qalletmqnk fisspflase dgvlggvivl rscrcsaepd ssqnkqtllv
      181 eflwshttes mcvgymsaqd gkakthisrl ppgavagqsv aieggvcrle spvn
//
LOCUS       XP_054207036             675 aa            linear   PRI 20-MAR-2023
DEFINITION  actin-binding LIM protein 2 isoform X15 [Homo sapiens].
ACCESSION   XP_054207036
VERSION     XP_054207036.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351061.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..675
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..675
                     /product="actin-binding LIM protein 2 isoform X15"
                     /calculated_mol_wt=74362
     CDS             1..675
                     /gene="ABLIM2"
                     /coded_by="XM_054351061.1:103..2130"
                     /db_xref="GeneID:84448"
                     /db_xref="HGNC:HGNC:19195"
                     /db_xref="MIM:612544"
ORIGIN      
        1 mgvpggdtvs qpqaapsple kspstailcn tcgnvckgev lrvqdkyfhi kcfvckacgc
       61 dlaeggffvr qgeyictldy qrlygtrcfs cdqfiegevv salgktyhpd cfvcavcrlp
      121 fppgdrvtfn gkecmcqkcs lpvsvgssah lsqglrscgg cgteikngqa lvaldkhwhl
      181 gcfkckscgk llnaeyiskd glpyceadyh akfgircdsc ekyitgrvle agekhyhpsc
      241 alcvrcgqmf aegeemylqg ssiwhpacrq aartedrnke trtssesiis vpasstsgsp
      301 srviyaklgg eildyrdlaa lpkskaiydi drpdmisysp yishsagdrq sygespqlls
      361 ptptegdqdd rsykqcrtss psstgsvslg rytptsrspq hysrpdtgvk dniyrkppiy
      421 rqhgpvaqsq isklsglvsv lslvvqeagy gkrqtgpspp paaaarrsdg edgsldqdnr
      481 kqksswlmlk gdadtrtnsp dldtqslshs sgtdrdplqr magdsfhsrn plcltilivp
      541 lllsrwhclv srfawkwqrg prlpavpgsg fpysksdplp ghgkngldqr nanlapcgad
      601 pdaswgmrey kiypydsliv tnrirvklpk dvdrtrlerh lspeefqevf gmsieefdrl
      661 alwkrndlkk kallf
//
LOCUS       XP_054208741             937 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM13B isoform X1 [Homo sapiens].
ACCESSION   XP_054208741
VERSION     XP_054208741.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352766.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..937
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..937
                     /product="protein FAM13B isoform X1"
                     /calculated_mol_wt=106914
     CDS             1..937
                     /gene="FAM13B"
                     /gene_synonym="ARHGAP49; C5orf5; FAM13B1; KHCHP; N61"
                     /coded_by="XM_054352766.1:291..3104"
                     /db_xref="GeneID:51306"
                     /db_xref="HGNC:HGNC:1335"
                     /db_xref="MIM:609371"
ORIGIN      
        1 mrkssspsls ncnsvlanki fgipldelqq gghpdnevpf ivrhvvdyie ehggleqqgl
       61 fqvngnaetv ewlrqrydsg eevdlvkead vpsaisllrf flqelpepvi pgslhihlmq
      121 lsqdynnede fgrklrfllq qlppvnysll kflcrflanv ashheeiwsa nslaavfgpd
      181 vfhiytdved mkeqeivsri magllenyye ffeneeedfs sndlssiteq vnelseeeee
      241 deklehieel peegaeksnd mpevvqlrmt enilesnsvt atsthispis ilpastdile
      301 rtiraaveqh lfdlqssidh dlknlqqqsv vcnneaesih cdgegsnnqi diaddiinas
      361 esnrdcskpv astnldneam qqdcvfenee ntqsvgille pcsdrgdsed gclereeyll
      421 fdsdklshli ldssskicdl nantesevpg gqsvgvqgea acvsiphldl knvsdgdkwe
      481 ascpitfpli dfktmhlqrd geepfpafks wqedsesgea qlspqagrmn hhpleedcpp
      541 vlshrsldfg qsqrflhdpe kldssskals ftrirrssfs skdekredrt pyqlvkklqk
      601 kirqfeeqfe rernskpsys diaanpkvlk wmteltklrk qikdakhkns dgefvpqtrp
      661 rsntlpksfg ssldhedeen edepkviqke kkpskeatle lilkrlkekr ierclpedik
      721 kmtkdhlvee kaslqkslly yesqhgrpvt keerhivkpl ydryrlvkqm ltrasitpvl
      781 gspstkrrgq mlqpiieget ahffeeikee eedgvnlsse lgdmlktavq vqsslenses
      841 dveenqekla ldlrlsssra asmpelleql wkaraekkkl rktlrefeea fyqqngrnaq
      901 kedrvpvlee yreykkikak lrllevlisk qdssksi
//
LOCUS       XP_054208938            2767 aa            linear   PRI 20-MAR-2023
DEFINITION  teneurin-2 isoform X1 [Homo sapiens].
ACCESSION   XP_054208938
VERSION     XP_054208938.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352963.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2767
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2767
                     /product="teneurin-2 isoform X1"
                     /calculated_mol_wt=306787
     CDS             1..2767
                     /gene="TENM2"
                     /gene_synonym="ODZ2; ten-2; TEN-M2; TEN2; TNM2"
                     /coded_by="XM_054352963.1:685..8988"
                     /db_xref="GeneID:57451"
                     /db_xref="HGNC:HGNC:29943"
                     /db_xref="MIM:610119"
ORIGIN      
        1 mdvkdrrhrs ltrgrcgkec rytsssldse dcrvptqksy sssetlkayd hdsrmhygnr
       61 vtdlihresd efprqgtnft laelgiceps phrsgycsdm gilhqgysls tgsdadsdte
      121 ggmspehair lwgrgiksrr ssglssrens altltdsdne nksddengrp ipptsspsll
      181 psaqlpsshn pppvscqmpl ldsntshqim dtnpdeefsp nsyllracsg pqqasssgpp
      241 nhhsqstlrp plppphnhtl shhhssansl nrnsltnrrs qihapapapn dlattpesvq
      301 lqdswvlnsn vpletrhflf ktssgstplf sssspgyplt sgtvytpppr llprntfsrk
      361 afklkkpsky cswkcaalsa iaaalllail layfiamhll glnwqlqpad ghtfnngirt
      421 glpgnddvat mpsggkvpws lknssidsge aevgrrvtqe vppgvfwrsq ihisqpqflk
      481 fnislgkdal fgvyirrglp pshaqydfme rldgkekwsv vesprerrsi qtlvqneavf
      541 vqyldvglwh lafyndgkdk emvsfntvvl dsvqdcprnc hgngecvsgv chcfpgflga
      601 dcakaacpvl csgngqyskg tcqcysgwkg aecdvpmnqc idpscgghgs cidgncvcsa
      661 gykgehceev dcldptcssh gvcvngeclc spgwgglnce larvqcpdqc sghgtylpdt
      721 glcscdpnwm gpdcsvevcs vdcgthgvci ggacrceegw tgaacdqrvc hprciehgtc
      781 kdgkcecreg wngehctigr qtagtetdgc pdlcngngrc tlgqnswqcv cqtgwrgpgc
      841 nvametscad nkdnegdglv dcldpdcclq sacqnsllcr gsrdpldiiq qgqtdwpavk
      901 sfydriklla gkdsthiipg enpfnsslvs lirgqvvttd gtplvgvnvs fvkypkygyt
      961 itrqdgtfdl ianggasltl hferapfmsq ertvwlpwns fyamdtlvmk teensipscd
     1021 lsgfvrpdpi iissplstff saapgqnpiv petqvlheei elpgsnvklr ylssrtagyk
     1081 sllkitmtqs tvplnlirvh lmvaveghlf qksfqaspnl aytfiwdktd aygqrvygls
     1141 davvsvgfey etcpslilwe krtallqgfe ldpsnlggws ldkhhilnvk sgilhkgtge
     1201 nqfltqqpai itsimgngrr rsiscpscng laegnkllap valavgidgs lyvgdfnyir
     1261 rifpsrnvts ilelrnnpah kyylavdpvs gslyvsdtns rriyrvksls gtkdlagnse
     1321 vvagtgeqcl pfdearcgdg gkaidatlms prgiavdkng lmyfvdatmi rkvdqngiis
     1381 tllgsndlta vrplscdssm dvaqvrlewp tdlavnpmdn slyvlennvi lritenhqvs
     1441 iiagrpmhcq vpgidyslsk laihsalesa saiaishtgv lyitetdekk inrlrqvttn
     1501 geicllagaa sdcdckndvn cncysgdday atdailnsps slavapdgti yiadlgniri
     1561 ravsknkpvl nafnqyeaas pgeqelyvfn adgihqytvs lvtgeylynf tystdndvte
     1621 lidnngnslk irrdssgmpr hllmpdnqii tltvgtnggl kvvstqnlel glmtydgntg
     1681 llatksdetg wttfydydhe grltnvtrpt gvvtslhrem eksitidien snrdddvtvi
     1741 tnlssveasy tvvqdqvrns yqlcnngtlr vmyangmgis fhsephvlag titptigrcn
     1801 islpmengln siewrlrkeq ikgkvtifgr klrvhgrnll sidydrnirt ekiyddhrkf
     1861 tlriiydqvg rpflwlpssg laavnvsyff ngrlaglqrg amsertdidk qgrivsrmfa
     1921 dgkvwsysyl dksmvlllqs qrqyifeyds sdrllavtmp svarhsmsth tsigyirniy
     1981 nppesnasvi fdysddgril ktsflgtgrq vfykygklsk lseivydsta vtfgydettg
     2041 vlkmvnlqsg gfsctiryrk igplvdkqiy rfseegmvna rfdytyhdns friasikpvi
     2101 setplpvdly rydeisgkve hfgkfgviyy dinqiittav mtlskhfdth grikevqyem
     2161 frslmywmtv qydsmgrvik relklgpyan ttkytydydg dgqlqsvavn drptwrysyd
     2221 lngnlhllnp gnsvrlmplr ydlrdritrl gdvqykiddd gylcqrgsdi feynskgllt
     2281 raynkasgws vqyrydgvgr rasyktnlgh hlqyfysdlh nptrithvyn hsnseitsly
     2341 ydlqghlfam esssgeeyyv asdntgtpla vfsinglmik qlqytaygei yydsnpdfqm
     2401 vigfhgglyd pltklvhftq rdydvlagrw tspdytmwkn vgkepapfnl ymfksnnpls
     2461 seldlknyvt dvkswlvmfg fqlsniipgf prakmyfvpp pyelsesqas engqlitgvq
     2521 qtterhnqaf malegqvitk klhasireka ghwfatttpi igkgimfaik egrvttgvss
     2581 iasedsrkva svlnnayyld kmhysiegkd thyfvkigsa dgdlvtlgtt igrkvlesgv
     2641 nvtvsqptll vngrtrrftn iefqystlll sirygltpdt ldeekarvld qarqralgta
     2701 wakeqqkard gregsrlwte gekqqllstg rvqgyegyyv lpveqypela dsssniqflr
     2761 qnemgkr
//
LOCUS       XP_054210012             605 aa            linear   PRI 20-MAR-2023
DEFINITION  heterogeneous nuclear ribonucleoprotein Q isoform X2 [Homo
            sapiens].
ACCESSION   XP_054210012
VERSION     XP_054210012.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354037.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..605
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..605
                     /product="heterogeneous nuclear ribonucleoprotein Q
                     isoform X2"
                     /calculated_mol_wt=67245
     CDS             1..605
                     /gene="SYNCRIP"
                     /gene_synonym="GRY-RBP; GRYRBP; hnRNP-Q; HNRNPQ; HNRPQ1;
                     NSAP1; PP68"
                     /coded_by="XM_054354037.1:2814..4631"
                     /db_xref="GeneID:10492"
                     /db_xref="HGNC:HGNC:16918"
                     /db_xref="MIM:616686"
ORIGIN      
        1 matehvngng teepmdttsa vihsenfqtl ldaglpqkva ekldeiyvag lvahsdlder
       61 aiealkefne dgalavlqqf kdsdlshvqn ksaflcgvmk tyrqrekqgt kvadsskgpd
      121 eakikaller tgytldvttg qrkyggpppd svysgqqpsv gteifvgkip rdlfedelvp
      181 lfekagpiwd lrlmmdpltg lnrgyafvtf ctkeaaqeav klynnheirs gkhigvcisv
      241 annrlfvgsi pksktkeqil eefskvtegl tdvilyhqpd dkkknrgfcf leyedhktaa
      301 qarrrlmsgk vkvwgnvgtv ewadpiedpd pevmakvkvl fvrnlantvt eeilekafsq
      361 fgklervkkl kdyafihfde rdgavkamee mngkdlegen ieivfakppd qkrkerkaqr
      421 qaaknqmydd yyyygpphmp pptrgrgrgg rggygyppdy ygyedyydyy gydyhnyrgg
      481 yedpyygyed fqvgargrgg rgargaapsr grgaapprgr agysqrggpg sargvrgarg
      541 gaqqqrgrgv rgarggrggn vggkrkadgy nqpdskrrqt nnqnwgsqpi aqqplqagkr
      601 grgrs
//
LOCUS       XP_054212789             542 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptotagmin-like protein 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054212789
VERSION     XP_054212789.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356814.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..542
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..542
                     /product="synaptotagmin-like protein 3 isoform X2"
                     /calculated_mol_wt=60809
     CDS             1..542
                     /gene="SYTL3"
                     /gene_synonym="SLP3"
                     /coded_by="XM_054356814.1:3328..4956"
                     /db_xref="GeneID:94120"
                     /db_xref="HGNC:HGNC:15587"
ORIGIN      
        1 maqeidlsal kelereailq vlyrdqavqn teeertrklk thlqhlrwkg akntdwehke
       61 kccarcqqvl gfllhrgavc rgcshrvcaq crvflrgtha wkctvcfedr nvkiktgewf
      121 yeerakkfpt ggkhetvggq llqsyqklsk isvvpptppp vsesqcsrsp grkvsapdil
      181 kplnqedpkc stnpilkqqn lpsspapsti fsggfrhgsl isidstctem gnfdnanvtg
      241 eiefaihycf kthsleicik acknlaygee kkkkcnpyvk tyllpdrssq gkrktgvqrn
      301 tvdptfqetl kyqvapaqlv trqlqvsvwh lgtlarrvfl geviiplatw dfedsttqsf
      361 rwhplrakae kyedsvpqsn geltvraklv lpsrprklqe aqegtdqpsl hgqlclvvlg
      421 aknlpvrpdg tlnsfvkgcl tlpdqqklrl kspvlrkqac pqwkhsfvfs gvtpaqlrqs
      481 sleltvwdqa lfgmndrllg gtrlgskgdt avggdacsqs klqwqkvlss pnlwtdmtlv
      541 lh
//
LOCUS       XP_054214471             866 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF216 isoform X2 [Homo sapiens].
ACCESSION   XP_054214471
VERSION     XP_054214471.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358496.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..866
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..866
                     /product="E3 ubiquitin-protein ligase RNF216 isoform X2"
                     /calculated_mol_wt=99275
     CDS             1..866
                     /gene="RNF216"
                     /gene_synonym="CAHH; TRIAD3; U7I1; UBCE7IP1; ZIN"
                     /coded_by="XM_054358496.1:401..3001"
                     /db_xref="GeneID:54476"
                     /db_xref="HGNC:HGNC:21698"
                     /db_xref="MIM:609948"
ORIGIN      
        1 meegnnneev ihlnnfhchr gqewinlrdg pitisdssde eripmlvtpa pqqheeedld
       61 ddviltedds eddygefldl gppgiseftk psgqterepk pgpshnqaan divnprseqk
      121 viileegsll ytesdpletq nqssedsete llsnlgesaa laddqaieed cwldhpyfqs
      181 lnqqpreitn qvvpqerqpe aelgrllfqh efpgpafprp epqqggisgp sspqpahplg
      241 efedqqlasd deepgpafpm qesqepnlen iwgqeaaevd qelvellvke tearfpdvan
      301 gfieeiihfk nyydlnvlcn fllenpdypk redriiinps ssllasqdet klpkidffdy
      361 skltpldqrc fiqaadllma dfkvlssqdi kwalhelkgh yaitrkalsd aikkwqelsp
      421 etsgkrkkrk qmnqysyidf kfeqgdikie krmfflenkr rhcrsydrra llpavqqeqe
      481 fyeqkikema ehedfllalq mneeqyqkdg qliecrccyg efpfeeltqc adahlfckec
      541 liryaqeavf gsgklelscm egsctcsfpt selekvlpqt ilykyyerka eeevaaayad
      601 elvrcpscsf palldsdvkr fscpnphcrk etcrkcqglw kehngltcee laekddikyr
      661 tsieekmtaa rirkchkcgt gliksegcnr mscrcgaqmc ylcrvsingy dhfcqhprsp
      721 gapcqecsrc slwtdptedd eklieeiqke aeeeqkrkng entfkrigpp lekpvekvqr
      781 vealprpvpq nlpqpqmppy afahppfplp pvrpvfnnfp lnmgpipapy vpplpnvrvn
      841 ydfgpihmpl ehnlpmhfgp qprhrf
//
LOCUS       XP_054218330             412 aa            linear   PRI 20-MAR-2023
DEFINITION  ribitol-5-phosphate transferase FKTN isoform X7 [Homo sapiens].
ACCESSION   XP_054218330
VERSION     XP_054218330.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362355.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..412
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..412
                     /product="ribitol-5-phosphate transferase FKTN isoform X7"
                     /calculated_mol_wt=47580
     CDS             1..412
                     /gene="FKTN"
                     /gene_synonym="CMD1X; FCMD; LGMD2M; LGMDR13; MDDGA4;
                     MDDGB4; MDDGC4"
                     /coded_by="XM_054362355.1:298..1536"
                     /db_xref="GeneID:2218"
                     /db_xref="HGNC:HGNC:3622"
                     /db_xref="MIM:607440"
ORIGIN      
        1 msrinknvvl alltltssaf llfqlyyykh ylstkngagl skskgsrigf dstqwravkk
       61 fimltsnqnv pvflidplil elinknfeqv kntshgstsq ckffcvprdf tafalqyhlw
      121 kneegwfria enmgfqclki eskdprldgi dslsgteipl hyicklatha ihlvvfhers
      181 gnylwhghlr lkehidrkfv pfqklqfgry pgafdrpelq qvtvdglevl ipkdpmhfve
      241 evphsrfiec rykearaffq qylddntvea vafrksakel lqlaaktlnk lgvpfwlssg
      301 tclgwyrqcn iipyskdvdl gifiqdyksd iilafqdagl plkhkfgkve dslelsfqgk
      361 ddvkldvfff yeetdhmwng gtqaktgkkf kyesnkylfi kipvsevytv ld
//
LOCUS       XP_054218548             450 aa            linear   PRI 20-MAR-2023
DEFINITION  folylpolyglutamate synthase, mitochondrial isoform X3 [Homo
            sapiens].
ACCESSION   XP_054218548
VERSION     XP_054218548.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362573.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..450
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..450
                     /product="folylpolyglutamate synthase, mitochondrial
                     isoform X3"
                     /calculated_mol_wt=50080
     CDS             1..450
                     /gene="FPGS"
                     /coded_by="XM_054362573.1:378..1730"
                     /db_xref="GeneID:2356"
                     /db_xref="HGNC:HGNC:3824"
                     /db_xref="MIM:136510"
ORIGIN      
        1 mlntlqtnag yleqvkrqrg dpqtqleame lylarsglqv edldrlniih vtgtkgkgst
       61 caftecilrs yglktgffss phlvqvreri ringqpispe lftkyfwrly hrleetkdgs
      121 cvsmppyfrf ltlmafhvfl qekvdlavve vgiggaydct niirkpvvcg vsslgidhts
      181 llgdtvekia wqkggifkqg vpaftvlqpe gplavlrdra qqiscplylc pmlealeegg
      241 ppltlglege hqrsnaalal qlahcwlqrq drhgagepka srpgllwqlp lapvfqptsh
      301 mrlglrntew pgrtqvlrrg pltwyldgah tassaqacvr wfrqalqgre rpsggpevrv
      361 llfnatgdrd paallkllqp cqfdyavfcp nltevsstgn adqqnftvtl dqvllrcleh
      421 qqhwnhldee qaspdlwsap spepgglsvr
//
LOCUS       XP_054219360             798 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein phosphatase non-receptor type 3 isoform X7 [Homo
            sapiens].
ACCESSION   XP_054219360
VERSION     XP_054219360.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363385.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..798
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..798
                     /product="tyrosine-protein phosphatase non-receptor type 3
                     isoform X7"
                     /calculated_mol_wt=90678
     CDS             1..798
                     /gene="PTPN3"
                     /gene_synonym="PTP-H1; PTPH1"
                     /coded_by="XM_054363385.1:161..2557"
                     /db_xref="GeneID:5774"
                     /db_xref="HGNC:HGNC:9655"
                     /db_xref="MIM:176877"
ORIGIN      
        1 meipipnrhl yflqlkmdic egrltcplns avvlasyavq shfgdynssi hhpgylsdsh
       61 fipdqnedfl tkveslheqh sglkqseaes cyiniartld fygvelhsgr dlhnldlmig
      121 iasagvavyr kyictsfypw vnilkisfkr kkffihqrqk qaesrehiva fnmlnyrsck
      181 nlwkscvehh tffqakkllp qeknvlsqyw tmgsrntkks vnnqyckkvi ggmvwnpamr
      241 rslsvehlet kslpsrsppi tpnwrsprlr heirkprhss adnlanemty itetedvfyt
      301 ykgslapqds dsevsqnrsp hqeslsennp aqsyltqkss ssvspssnap gscspdgvdq
      361 qllddfhrvt kggstedasq yycdkndngd sylvliritp dedgkfgfnl kggvdqkmpl
      421 vvsrinpesp adtcipklne gdqivlingr disehthdqv vmfikasres hsrelalvir
      481 rravrsfadf ksedelnqlf peaifpmcpe ggdtlegsma qlkkglesgt vliqfeqlyr
      541 kkpglaitfa klpqnldknr ykdvlpydtt rvllqgnedy inasyvnmei paanlvnkyi
      601 atqgplphtc aqfwqvvwdq klslivmltt ltergrtkch qywpdppdvm nhggfhiqcq
      661 sedctiayvs remlvtntqt geehtvthlq yvawpdhgvp ddssdflefv nyvrslrvds
      721 epvlvhcsag igrtgvlvtm etamcltern lpiypldivr kmrdqrammv qtssqykfvc
      781 eailrvyeeg lvqmldps
//
LOCUS       XP_054182639             821 aa            linear   PRI 20-MAR-2023
DEFINITION  integrator complex subunit 6-like isoform X4 [Homo sapiens].
ACCESSION   XP_054182639
VERSION     XP_054182639.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326664.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..821
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..821
                     /product="integrator complex subunit 6-like isoform X4"
                     /calculated_mol_wt=91958
     CDS             1..821
                     /gene="INTS6L"
                     /gene_synonym="DDX26B"
                     /coded_by="XM_054326664.1:184..2649"
                     /db_xref="GeneID:203522"
                     /db_xref="HGNC:HGNC:27334"
ORIGIN      
        1 mselknlqas glttlgqalr ssfdllnlnr lisgidnygq grnpffleps ilititdgnk
       61 ltstagvqee lhlplnsplp gseltkepfr wdqrlfalvl rlpgvastep eqlgsvptde
      121 saitqmcevt ggrsycvrtq rmlnqclesl vqkvqsgvvi nfektgpdpl pigedglmds
      181 srpsnsfaaq pwhschkliy vrpnsktgvp vghwpipesf wpdqnlpslp prtshpvvrf
      241 scvdcepmvi dklpfdkyel epspltqyil erksphtcwq vfvtssgkyn elgypfgylk
      301 asttltcvnl fvmpynypvl lpllddlfkv hklkpnlkwr qafdsylktl ppyyllplkk
      361 alrmmgapnl isdnldcgls ysvisylkkl sqqtkleser ilasvgkkpp qeigikvknh
      421 sgggmslthn knfrkllkei tgetalrlte lntkefagfq igllnkdlkp qtyrnaydip
      481 rrglldqltr mrsnllkthk fivgqdedsl hsvpvaqmgn yqeylktlas plreidpdqp
      541 krlhtfgnpf kqdkkgmmid eadefvagpq nkvkrpgepn spmsskrrrs mslllrkpqt
      601 pptvtnhvgg kgppsaswfp sypnlikptl vhtdatiihd gheekmengq itpdgflsks
      661 apselinmtg dlmppnqvds lsddftslsk dgliqkpgsn afvggakncs lsvddqkdpv
      721 astlgampnt lqitpamaqg inadikhqlm kevrkfgrky erifilleev qgplemkkqf
      781 veftikeaar fkrrvliqyl ekrhykvhlr lpptsdicsc m
//
LOCUS       NP_001387334            1506 aa            linear   PRI 23-MAR-2023
DEFINITION  CLIP-associating protein 2 isoform 22 [Homo sapiens].
ACCESSION   NP_001387334 XP_016861452
VERSION     NP_001387334.1
DBSOURCE    REFSEQ: accession NM_001400405.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1506)
  AUTHORS   Rodgers NC, Lawrence EJ, Sawant AV, Efimova N, Gonzalez-Vasquez G,
            Hickman TT, Kaverina I and Zanic M.
  TITLE     CLASP2 facilitates dynamic actin filament organization along the
            microtubule lattice
  JOURNAL   Mol Biol Cell 34 (3), br3 (2023)
   PUBMED   36598814
  REMARK    GeneRIF: CLASP2 facilitates dynamic actin filament organization
            along the microtubule lattice.
REFERENCE   2  (residues 1 to 1506)
  AUTHORS   Luo W, Demidov V, Shen Q, Girao H, Chakraborty M, Maiorov A,
            Ataullakhanov FI, Lin C, Maiato H and Grishchuk EL.
  TITLE     CLASP2 recognizes tubulins exposed at the microtubule plus-end in a
            nucleotide state-sensitive manner
  JOURNAL   Sci Adv 9 (1), eabq5404 (2023)
   PUBMED   36598991
  REMARK    GeneRIF: CLASP2 recognizes tubulins exposed at the microtubule
            plus-end in a nucleotide state-sensitive manner.
REFERENCE   3  (residues 1 to 1506)
  AUTHORS   Chia S, Leung T and Tan I.
  TITLE     Cyclical phosphorylation of LRAP35a and CLASP2 by GSK3beta and
            CK1delta regulates EB1-dependent MT dynamics in cell migration
  JOURNAL   Cell Rep 36 (11), 109687 (2021)
   PUBMED   34525355
  REMARK    GeneRIF: Cyclical phosphorylation of LRAP35a and CLASP2 by GSK3beta
            and CK1delta regulates EB1-dependent MT dynamics in cell migration.
REFERENCE   4  (residues 1 to 1506)
  AUTHORS   Karki P, Ke Y, Zhang CO, Li Y, Tian Y, Son S, Yoshimura A, Kaibuchi
            K, Birukov KG and Birukova AA.
  TITLE     SOCS3-microtubule interaction via CLIP-170 and CLASP2 is critical
            for modulation of endothelial inflammation and lung injury
  JOURNAL   J Biol Chem 296, 100239 (2021)
   PUBMED   33372035
  REMARK    GeneRIF: SOCS3-microtubule interaction via CLIP-170 and CLASP2 is
            critical for modulation of endothelial inflammation and lung
            injury.
REFERENCE   5  (residues 1 to 1506)
  AUTHORS   Mitra S, Shanmugapriya S, Santos da Silva E and Naghavi MH.
  TITLE     HIV-1 Exploits CLASP2 To Induce Microtubule Stabilization and
            Facilitate Virus Trafficking to the Nucleus
  JOURNAL   J Virol 94 (14), e00404-20 (2020)
   PUBMED   32376623
  REMARK    GeneRIF: HIV-1 Exploits CLASP2 To Induce Microtubule Stabilization
            and Facilitate Virus Trafficking to the Nucleus.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1506)
  AUTHORS   Mimori-Kiyosue Y, Grigoriev I, Lansbergen G, Sasaki H, Matsui C,
            Severin F, Galjart N, Grosveld F, Vorobjev I, Tsukita S and
            Akhmanova A.
  TITLE     CLASP1 and CLASP2 bind to EB1 and regulate microtubule plus-end
            dynamics at the cell cortex
  JOURNAL   J Cell Biol 168 (1), 141-153 (2005)
   PUBMED   15631994
  REMARK    GeneRIF: propose that CLASP1 and CLASP2 can mediate interactions
            between microtubule plus ends and the cell cortex and act as local
            rescue factors, possibly through forming a complex with EB1 at
            microtubule tips
REFERENCE   7  (residues 1 to 1506)
  AUTHORS   Lee H, Engel U, Rusch J, Scherrer S, Sheard K and Van Vactor D.
  TITLE     The microtubule plus end tracking protein Orbit/MAST/CLASP acts
            downstream of the tyrosine kinase Abl in mediating axon guidance
  JOURNAL   Neuron 42 (6), 913-926 (2004)
   PUBMED   15207236
REFERENCE   8  (residues 1 to 1506)
  AUTHORS   Maiato H, Fairley EA, Rieder CL, Swedlow JR, Sunkel CE and Earnshaw
            WC.
  TITLE     Human CLASP1 is an outer kinetochore component that regulates
            spindle microtubule dynamics
  JOURNAL   Cell 113 (7), 891-904 (2003)
   PUBMED   12837247
REFERENCE   9  (residues 1 to 1506)
  AUTHORS   Akhmanova A, Hoogenraad CC, Drabek K, Stepanova T, Dortland B,
            Verkerk T, Vermeulen W, Burgering BM, De Zeeuw CI, Grosveld F and
            Galjart N.
  TITLE     Clasps are CLIP-115 and -170 associating proteins involved in the
            regional regulation of microtubule dynamics in motile fibroblasts
  JOURNAL   Cell 104 (6), 923-935 (2001)
   PUBMED   11290329
REFERENCE   10 (residues 1 to 1506)
  AUTHORS   Lemos CL, Sampaio P, Maiato H, Costa M, Omel'yanchuk LV, Liberal V
            and Sunkel CE.
  TITLE     Mast, a conserved microtubule-associated protein required for
            bipolar mitotic spindle organization
  JOURNAL   EMBO J 19 (14), 3668-3682 (2000)
   PUBMED   10899121
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC113170.2, AC132515.6 and AC093114.2.
            On Jan 24, 2022 this sequence version replaced XP_016861452.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372080.4002692.1,
                                           SRR14038197.1626787.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1506
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.3"
     Protein         1..1506
                     /product="CLIP-associating protein 2 isoform 22"
                     /note="CLIP-associating protein 2; multiple asters
                     (Mast)-like homolog 2; protein Orbit homolog 2;
                     CLIP-associating protein CLASP2"
                     /calculated_mol_wt=164671
     Region          131..157
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          167..201
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          168..198
                     /region_name="HEAT"
                     /note="HEAT repeat; pfam02985"
                     /db_xref="CDD:427093"
     Region          327..539
                     /region_name="CLASP_N"
                     /note="CLASP N terminal; pfam12348"
                     /db_xref="CDD:432496"
     Region          <672..>760
                     /region_name="CoV_N-NTD"
                     /note="N-terminal domain of nucleocapsid (N) protein of
                     coronavirus; cl41918"
                     /db_xref="CDD:455263"
     Region          868..895
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(884..885,888,891..892,895,925..926,929,932..933,936,
                     967..968,971,974..975,1006..1007,1010,1013..1014)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          907..937
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          946..975
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          986..1015
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     CDS             1..1506
                     /gene="CLASP2"
                     /coded_by="NM_001400405.1:253..4773"
                     /note="isoform 22 is encoded by transcript variant 22"
                     /db_xref="GeneID:23122"
                     /db_xref="HGNC:HGNC:17078"
                     /db_xref="MIM:605853"
ORIGIN      
        1 meprsmeyfc aqvqqkdvgg rlqvgqelll ylgapgaisd leedlgrlgk tvdaltgwvg
       61 ssnyrvslmg leilsafvdr lstrfksyva mvivalidrm gdakdkvrde aqtlilklmd
      121 qvappmyiwe qlasgfkhkn frsregvclc lietlnifga qplvisklip hlcilfgdsn
      181 sqvrdaaila iveiyrhvge kvrmdlykrg ipparlemif akfdevqssg gmilsvckdk
      241 sfddeesvdg nrpssaasaf kvpapktsgn pansarkpgs aggpkvgaga skeggagavd
      301 eddfikaftd vpsiqiyssr eleetlnkir eilsddkhdw dqranalkki rsllvagaaq
      361 ydcffqhlrl ldgalklsak dlrsqvvrea citvahlstv lgnkfdhgae aivptlfnlv
      421 pnsakvmats gcaairfiir hthvprlipl itsnctsksv pvrrrsfefl dlllqewqth
      481 slerhaavlv etikkgihda daearveark tymglrnhfp geaetlynsl epsyqkslqt
      541 ylkssgsvas lpqsdrssss sqeslnrpfs skwstanpst vagrvsagss kasslpgslq
      601 rsrsdidvna aagakahhaa gqsvrsgrlg agalnagsya sledtsdkld gtasedgrvr
      661 aklsaplagm gnakadsrgr srtkmvsqsq pgsrsgspgr vltttalstv ssgvqrvlvn
      721 sasaqkrski prsqgcsrea spsrlsvars sriprpsvsq gcsreasres srdtspvrsf
      781 qplgpgygis qssrlsssvs amrvlntgsd veeavadalk kparrryesy gmhsdddans
      841 dassacsers yssrngsipt ymrqtedvae vlnrcassnw serkegllgl qnllknqrtl
      901 srvelkrlce iftrmfadph gkvfsmflet lvdfiqvhkd dlqdwlfvll tqllkkmgad
      961 llgsvqakvq kaldvtresf pndlqfnilm rftvdqtqtp slkvkvailk yietlakqmd
     1021 pgdfinsset rlavsrvitw ttepkssdvr kaaqsvlisl felntpeftm llgalpktfq
     1081 dgatkllhnh lrntgngtqs smgspltrpt prspanwssp ltsptntsqn tlspsafdyd
     1141 tenmnsediy sslrgvteai qnfsfrsqed mneplkrdsk kddgdsmcgg pgmsdpragg
     1201 datdssqtal dnkasllhsm pthssprsrd ynpynysdsi spfnksalke amfdddadqf
     1261 pddlsldhsd lvaellkels nhnerveerk ialyelmklt qeesfsvwde hfktilllll
     1321 etlgdkepti ralalkvlre ilrhqparfk nyaeltvmkt leahkdphke vvrsaeeaas
     1381 vlatsispeq cikvlcpiiq tadypinlaa ikmqtkvier vsketlnlll peimpgliqg
     1441 ydnsessvrk acvfclvavh avigdelkph lsqltgskmk llnlyikraq tgsggadptt
     1501 dvsgqs
//
LOCUS       NP_001258873             476 aa            linear   PRI 23-MAR-2023
DEFINITION  transcription factor EB isoform 1 [Homo sapiens].
ACCESSION   NP_001258873
VERSION     NP_001258873.1
DBSOURCE    REFSEQ: accession NM_001271944.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 476)
  AUTHORS   Cesana M, Tufano G, Panariello F, Zampelli N, Ambrosio S, De Cegli
            R, Mutarelli M, Vaccaro L, Ziller MJ, Cacchiarelli D, Medina DL and
            Ballabio A.
  TITLE     EGR1 drives cell proliferation by directly stimulating TFEB
            transcription in response to starvation
  JOURNAL   PLoS Biol 21 (3), e3002034 (2023)
   PUBMED   36888606
  REMARK    GeneRIF: EGR1 drives cell proliferation by directly stimulating
            TFEB transcription in response to starvation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 476)
  AUTHORS   Nakamura J, Yamamoto T, Takabatake Y, Namba-Hamano T, Minami S,
            Takahashi A, Matsuda J, Sakai S, Yonishi H, Maeda S, Matsui S,
            Matsui I, Hamano T, Takahashi M, Goto M, Izumi Y, Bamba T, Sasai M,
            Yamamoto M, Matsusaka T, Niimura F, Yanagita M, Nakamura S,
            Yoshimori T, Ballabio A and Isaka Y.
  TITLE     TFEB-mediated lysosomal exocytosis alleviates high-fat diet-induced
            lipotoxicity in the kidney
  JOURNAL   JCI Insight 8 (4), e162498 (2023)
   PUBMED   36649084
  REMARK    GeneRIF: TFEB-mediated lysosomal exocytosis alleviates high-fat
            diet-induced lipotoxicity in the kidney.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 476)
  AUTHORS   Martina JA, Jeong E and Puertollano R.
  TITLE     p38 MAPK-dependent phosphorylation of TFEB promotes
            monocyte-to-macrophage differentiation
  JOURNAL   EMBO Rep 24 (2), e55472 (2023)
   PUBMED   36507874
  REMARK    GeneRIF: p38 MAPK-dependent phosphorylation of TFEB promotes
            monocyte-to-macrophage differentiation.
REFERENCE   4  (residues 1 to 476)
  AUTHORS   Cui Z, Napolitano G, de Araujo MEG, Esposito A, Monfregola J, Huber
            LA, Ballabio A and Hurley JH.
  TITLE     Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator megacomplex
  JOURNAL   Nature 614 (7948), 572-579 (2023)
   PUBMED   36697823
  REMARK    GeneRIF: Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator
            megacomplex.
REFERENCE   5  (residues 1 to 476)
  AUTHORS   Mathur P, De Barros Santos C, Lachuer H, Patat J, Latge B, Radvanyi
            F, Goud B and Schauer K.
  TITLE     Transcription factor EB regulates phosphatidylinositol-3-phosphate
            levels that control lysosome positioning in the bladder cancer
            model
  JOURNAL   Commun Biol 6 (1), 114 (2023)
   PUBMED   36709383
  REMARK    GeneRIF: Transcription factor EB regulates
            phosphatidylinositol-3-phosphate levels that control lysosome
            positioning in the bladder cancer model.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 476)
  AUTHORS   Davis IJ, Hsi BL, Arroyo JD, Vargas SO, Yeh YA, Motyckova G,
            Valencia P, Perez-Atayde AR, Argani P, Ladanyi M, Fletcher JA and
            Fisher DE.
  TITLE     Cloning of an Alpha-TFEB fusion in renal tumors harboring the
            t(6;11)(p21;q13) chromosome translocation
  JOURNAL   Proc Natl Acad Sci U S A 100 (10), 6051-6056 (2003)
   PUBMED   12719541
  REMARK    GeneRIF: This gene fuses with an intronless gene in renal tumors
            harboring the t(6;11)(p21;q13) chromosome translocation.
REFERENCE   7  (residues 1 to 476)
  AUTHORS   Verastegui C, Bertolotto C, Bille K, Abbe P, Ortonne JP and
            Ballotti R.
  TITLE     TFE3, a transcription factor homologous to microphthalmia, is a
            potential transcriptional activator of tyrosinase and TyrpI genes
  JOURNAL   Mol Endocrinol 14 (3), 449-456 (2000)
   PUBMED   10707962
REFERENCE   8  (residues 1 to 476)
  AUTHORS   Steingrimsson E, Tessarollo L, Reid SW, Jenkins NA and Copeland NG.
  TITLE     The bHLH-Zip transcription factor Tfeb is essential for placental
            vascularization
  JOURNAL   Development 125 (23), 4607-4616 (1998)
   PUBMED   9806910
REFERENCE   9  (residues 1 to 476)
  AUTHORS   Steingrimsson E, Sawadogo M, Gilbert DJ, Zervos AS, Brent R, Blanar
            MA, Fisher DE, Copeland NG and Jenkins NA.
  TITLE     Murine chromosomal location of five bHLH-Zip transcription factor
            genes
  JOURNAL   Genomics 28 (2), 179-183 (1995)
   PUBMED   8530024
REFERENCE   10 (residues 1 to 476)
  AUTHORS   Carr CS and Sharp PA.
  TITLE     A helix-loop-helix protein related to the immunoglobulin E
            box-binding proteins
  JOURNAL   Mol Cell Biol 10 (8), 4384-4388 (1990)
   PUBMED   2115126
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL365205.35, AW294760.1 and BC032448.1.
            
            Transcript Variant: This variant (3) contains an alternate 5' exon,
            which results in a downstream AUG start codon, compared to variant
            2. The resulting isoform (1) has a shorter N-terminus, compared to
            isoform 2. Variants 1, 3 and 4 encode the same isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M33782.1, SRR11853559.27839.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373033.6/ ENSP00000362124.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..476
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     Protein         1..476
                     /product="transcription factor EB isoform 1"
                     /note="T-cell transcription factor EB; class E basic
                     helix-loop-helix protein 35"
                     /calculated_mol_wt=52734
     Region          1..66
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P19484.3)"
     Region          4..162
                     /region_name="MITF_TFEB_C_3_N"
                     /note="MITF/TFEB/TFEC/TFE3 N-terminus; pfam15951"
                     /db_xref="CDD:435035"
     Site            60..61
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by Coxsackievirus
                     B3 protease 3C. /evidence=ECO:0000269|PubMed:23434374;
                     propagated from UniProtKB/Swiss-Prot (P19484.3)"
     Region          107..142
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P19484.3)"
     Site            109
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R210; propagated from
                     UniProtKB/Swiss-Prot (P19484.3)"
     Site            114
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R210; propagated from
                     UniProtKB/Swiss-Prot (P19484.3)"
     Site            122
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P19484.3)"
     Region          136..153
                     /region_name="Nuclear export signal.
                     /evidence=ECO:0000269|PubMed:30120233"
                     /note="propagated from UniProtKB/Swiss-Prot (P19484.3)"
     Site            138
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:30120233,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (P19484.3)"
     Site            142
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MTOR.
                     /evidence=ECO:0000269|PubMed:21617040,
                     ECO:0000269|PubMed:22343943, ECO:0000269|PubMed:30120233,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (P19484.3)"
     Region          156..165
                     /region_name="Strong transcription activation domain.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P19484.3)"
     Site            183
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P19484.3)"
     Site            211
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MTOR.
                     /evidence=ECO:0000269|PubMed:22576015,
                     ECO:0000269|PubMed:22692423, ECO:0000269|PubMed:24081491,
                     ECO:0000269|PubMed:30120233, ECO:0000269|PubMed:35662396;
                     propagated from UniProtKB/Swiss-Prot (P19484.3)"
     Region          226..316
                     /region_name="bHLHzip_TFEB"
                     /note="basic Helix-Loop-Helix-zipper (bHLHzip) domain
                     found in transcription factor EB (TFEB) and similar
                     proteins; cd18927"
                     /db_xref="CDD:381497"
     Site            order(240..241,243..244,247..248,252,273..274)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381497"
     Site            order(250..251,254..255,257,261,274,278..279,282,284..286,
                     288..289,291..292,295,298..300)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381497"
     Region          298..319
                     /region_name="Leucine-zipper"
                     /note="propagated from UniProtKB/Swiss-Prot (P19484.3)"
     Region          321..457
                     /region_name="DUF3371"
                     /note="Domain of unknown function (DUF3371); pfam11851"
                     /db_xref="CDD:432129"
     Site            332
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:21617040; propagated from
                     UniProtKB/Swiss-Prot (P19484.3)"
     Region          349..430
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P19484.3)"
     Site            423
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:21617040,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P19484.3)"
     Site            441
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P19484.3)"
     Region          447..476
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P19484.3)"
     Site            466
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R210; propagated from
                     UniProtKB/Swiss-Prot (P19484.3)"
     Site            467
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P19484.3)"
     Site            469
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R210; propagated from
                     UniProtKB/Swiss-Prot (P19484.3)"
     CDS             1..476
                     /gene="TFEB"
                     /gene_synonym="ALPHATFEB; BHLHE35; TCFEB"
                     /coded_by="NM_001271944.2:282..1712"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS4858.1"
                     /db_xref="GeneID:7942"
                     /db_xref="HGNC:HGNC:11753"
                     /db_xref="MIM:600744"
ORIGIN      
        1 masriglrmq lmreqaqqee qrermqqqav mhymqqqqqq qqqqlggppt paintpvhfq
       61 spppvpgevl kvqsylenpt syhlqqsqhq kvreylsety gnkfaahisp aqgspkpppa
      121 aspgvraghv lsssagnsap nspmamlhig snperelddv idnimrlddv lgyinpemqm
      181 pntlplsssh lnvyssdpqv taslvgvtss scpadltqkr eltdaesral akerqkkdnh
      241 nlierrrrfn indrikelgm lipkandldv rwnkgtilka svdyirrmqk dlqksrelen
      301 hsrrlemtnk qlwlriqele mqarvhglpt tspsgmnmae laqqvvkqel pseegpgeal
      361 mlgaevpdpe plpalppqap lplptqppsp fhhldfshsl sfggredegp pgypeplapg
      421 hgspfpslsk kdldlmlldd sllplasdpl lstmspeask assrrssfsm eegdvl
//
LOCUS       NP_001398069             559 aa            linear   PRI 24-MAR-2023
DEFINITION  polypyrimidine tract-binding protein 1 isoform d [Homo sapiens].
ACCESSION   NP_001398069 XP_005259654
VERSION     NP_001398069.1
DBSOURCE    REFSEQ: accession NM_001411140.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 559)
  AUTHORS   Ziegler N, Cortes-Lopez M, Alt F, Sprang M, Ustjanzew A, Lehmann N,
            El Malki K, Wingerter A, Russo A, Beck O, Attig S, Roth L, Konig J,
            Paret C and Faber J.
  TITLE     Analysis of RBP expression and binding sites identifies PTBP1 as a
            regulator of CD19 expression in B-ALL
  JOURNAL   Oncoimmunology 12 (1), 2184143 (2023)
   PUBMED   36875548
  REMARK    GeneRIF: Analysis of RBP expression and binding sites identifies
            PTBP1 as a regulator of CD19 expression in B-ALL.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 559)
  AUTHORS   Hu J, Wang Q, Fan X, Zhen J, Wang C, Chen H, Liu Y, Zhou P, Zhang
            T, Huang T, Wang R and Lv Z.
  TITLE     Long noncoding RNA ENST00000436340 promotes podocyte injury in
            diabetic kidney disease by facilitating the association of PTBP1
            with RAB3B
  JOURNAL   Cell Death Dis 14 (2), 130 (2023)
   PUBMED   36792603
  REMARK    GeneRIF: Long noncoding RNA ENST00000436340 promotes podocyte
            injury in diabetic kidney disease by facilitating the association
            of PTBP1 with RAB3B.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 559)
  AUTHORS   Yang H, Sun W, Bi T, Wang Q, Wang W, Xu Y, Liu Z and Li J.
  TITLE     The PTBP1-NCOA4 axis promotes ferroptosis in liver cancer cells
  JOURNAL   Oncol Rep 49 (2) (2023)
   PUBMED   36660932
  REMARK    GeneRIF: The PTBP1NCOA4 axis promotes ferroptosis in liver cancer
            cells.
REFERENCE   4  (residues 1 to 559)
  AUTHORS   Ju Z, Pan H, Qu C, Xiao L, Zhou M, Wang Y, Luo J, Shen L, Zhou P
            and Huang R.
  TITLE     Lactobacillus rhamnosus GG ameliorates radiation-induced lung
            fibrosis via lncRNASNHG17/PTBP1/NICD axis modulation
  JOURNAL   Biol Direct 18 (1), 2 (2023)
   PUBMED   36635762
  REMARK    GeneRIF: Lactobacillus rhamnosus GG ameliorates radiation-induced
            lung fibrosis via lncRNASNHG17/PTBP1/NICD axis modulation.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 559)
  AUTHORS   Angulo J, Caceres CJ, Contreras N, Fernandez-Garcia L, Chamond N,
            Ameur M, Sargueil B and Lopez-Lastra M.
  TITLE     Polypyrimidine-Tract-Binding Protein Isoforms Differentially
            Regulate the Hepatitis C Virus Internal Ribosome Entry Site
  JOURNAL   Viruses 15 (1), 8 (2022)
   PUBMED   36680049
  REMARK    GeneRIF: Polypyrimidine-Tract-Binding Protein Isoforms
            Differentially Regulate the Hepatitis C Virus Internal Ribosome
            Entry Site.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 559)
  AUTHORS   Raimondi E, Romanelli MG, Moralli D, Gamberi C, Russo MP and
            Morandi C.
  TITLE     Assignment of the human gene encoding heterogeneous nuclear RNA
            ribonucleoprotein I (PTB) to chromosome 14q23-q24.1
  JOURNAL   Genomics 27 (3), 553-555 (1995)
   PUBMED   7558043
REFERENCE   7  (residues 1 to 559)
  AUTHORS   Rasmussen HH, van Damme J, Puype M, Gesser B, Celis JE and
            Vandekerckhove J.
  TITLE     Microsequences of 145 proteins recorded in the two-dimensional gel
            protein database of normal human epidermal keratinocytes
  JOURNAL   Electrophoresis 13 (12), 960-969 (1992)
   PUBMED   1286667
REFERENCE   8  (residues 1 to 559)
  AUTHORS   Ghetti A, Pinol-Roma S, Michael WM, Morandi C and Dreyfuss G.
  TITLE     hnRNP I, the polypyrimidine tract-binding protein: distinct nuclear
            localization and association with hnRNAs
  JOURNAL   Nucleic Acids Res 20 (14), 3671-3678 (1992)
   PUBMED   1641332
REFERENCE   9  (residues 1 to 559)
  AUTHORS   Patton JG, Mayer SA, Tempst P and Nadal-Ginard B.
  TITLE     Characterization and molecular cloning of polypyrimidine
            tract-binding protein: a component of a complex necessary for
            pre-mRNA splicing
  JOURNAL   Genes Dev 5 (7), 1237-1251 (1991)
   PUBMED   1906036
REFERENCE   10 (residues 1 to 559)
  AUTHORS   Gil A, Sharp PA, Jamison SF and Garcia-Blanco MA.
  TITLE     Characterization of cDNAs encoding the polypyrimidine tract-binding
            protein
  JOURNAL   Genes Dev 5 (7), 1224-1236 (1991)
   PUBMED   1906035
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006273.1.
            On Aug 22, 2022 this sequence version replaced XP_005259654.1.
            
            Summary: This gene belongs to the subfamily of ubiquitously
            expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The
            hnRNPs are RNA-binding proteins and they complex with heterogeneous
            nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs
            in the nucleus and appear to influence pre-mRNA processing and
            other aspects of mRNA metabolism and transport. While all of the
            hnRNPs are present in the nucleus, some seem to shuttle between the
            nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic
            acid binding properties. The protein encoded by this gene has four
            repeats of quasi-RNA recognition motif (RRM) domains that bind
            RNAs. This protein binds to the intronic polypyrimidine tracts that
            requires pre-mRNA splicing and acts via the protein degradation
            ubiquitin-proteasome pathway. It may also promote the binding of U2
            snRNP to pre-mRNAs. This protein is localized in the nucleoplasm
            and it is also detected in the perinucleolar structure.
            Alternatively spliced transcript variants encoding different
            isoforms have been described. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853565.14485.1,
                                           SRR11853562.16635.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..559
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..559
                     /product="polypyrimidine tract-binding protein 1 isoform
                     d"
                     /note="polypyrimidine tract binding protein (heterogeneous
                     nuclear ribonucleoprotein I); heterogeneous nuclear
                     ribonucleoprotein polypeptide I; RNA-binding protein;
                     hnRNP I; 57 kDa RNA-binding protein PPTB-1"
                     /calculated_mol_wt=59701
     Region          59..559
                     /region_name="hnRNP-L_PTB"
                     /note="hnRNP-L/PTB/hephaestus splicing factor family;
                     TIGR01649"
                     /db_xref="CDD:273733"
     CDS             1..559
                     /gene="PTBP1"
                     /gene_synonym="HNRNP-I; HNRNPI; HNRPI; pPTB; PTB; PTB-1;
                     PTB-T; PTB2; PTB3; PTB4"
                     /coded_by="NM_001411140.1:549..2228"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS92475.1"
                     /db_xref="GeneID:5725"
                     /db_xref="HGNC:HGNC:9583"
                     /db_xref="MIM:600693"
ORIGIN      
        1 mragsivpdi avgtkrgsde lfstcvtngp fimssnsasa angndskkfk gdsrsagvps
       61 rvihirklpi dvtegevisl glpfgkvtnl lmlkgknqaf iemnteeaan tmvnyytsvt
      121 pvlrgqpiyi qfsnhkelkt dsspnqaraq aalqavnsvq sgnlalaasa aavdagmama
      181 gqspvlriiv enlfypvtld vlhqifskfg tvlkiitftk nnqfqallqy adpvsaqhak
      241 lsldgqniyn acctlridfs kltslnvkyn ndksrdytrp dlpsgdsqps ldqtmaaafg
      301 apgiisaspy agagfpptfa ipqaaglsvp nvhgalapla ipsaaaaaaa agriaipgla
      361 gagnsvllvs nlnpervtpq slfilfgvyg dvqrvkilfn kkenalvqma dgnqaqlams
      421 hlnghklhgk piritlskhq nvqlpregqe dqgltkdygn splhrfkkpg sknfqnifpp
      481 satlhlsnip psvseedlkv lfssnggvvk gfkffqkdrk maliqmgsve eavqalidlh
      541 nhdlgenhhl rvsfsksti
//
LOCUS       NP_001341938             230 aa            linear   PRI 26-MAR-2023
DEFINITION  nucleophosmin isoform 5 [Homo sapiens].
ACCESSION   NP_001341938 XP_005265977
VERSION     NP_001341938.1
DBSOURCE    REFSEQ: accession NM_001355009.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 230)
  AUTHORS   Wang Z, Pan B, Yao Y, Qiu J, Zhang X, Wu X and Tang N.
  TITLE     XPO1 intensifies sorafenib resistance by stabilizing acetylation of
            NPM1 and enhancing epithelial-mesenchymal transition in
            hepatocellular carcinoma
  JOURNAL   Biomed Pharmacother 160, 114402 (2023)
   PUBMED   36791564
  REMARK    GeneRIF: XPO1 intensifies sorafenib resistance by stabilizing
            acetylation of NPM1 and enhancing epithelial-mesenchymal transition
            in hepatocellular carcinoma.
REFERENCE   2  (residues 1 to 230)
  AUTHORS   Falini B, Martelli MP and Brunetti L.
  TITLE     Mutant NPM1: Nuclear export and the mechanism of leukemogenesis
  JOURNAL   Am J Hematol 98 (4), 550-552 (2023)
   PUBMED   36695655
  REMARK    GeneRIF: Mutant NPM1: Nuclear export and the mechanism of
            leukemogenesis.
REFERENCE   3  (residues 1 to 230)
  AUTHORS   Dillon LW, Gui G, Page KM, Ravindra N, Wong ZC, Andrew G, Mukherjee
            D, Zeger SL, El Chaer F, Spellman S, Howard A, Chen K, Auletta J,
            Devine SM, Jimenez Jimenez AM, De Lima MJG, Litzow MR, Kebriaei P,
            Saber W, Weisdorf DJ and Hourigan CS.
  TITLE     DNA Sequencing to Detect Residual Disease in Adults With Acute
            Myeloid Leukemia Prior to Hematopoietic Cell Transplant
  JOURNAL   JAMA 329 (9), 745-755 (2023)
   PUBMED   36881031
  REMARK    GeneRIF: DNA Sequencing to Detect Residual Disease in Adults With
            Acute Myeloid Leukemia Prior to Hematopoietic Cell Transplant.
REFERENCE   4  (residues 1 to 230)
  AUTHORS   D'Agostino M, Di Cecco M, Marani C, Vigili MG, Sileno S, Volpi CC,
            Gloghini A, Avitabile D, Magenta A and Rahimi S.
  TITLE     Positive Linear Relationship between Nucleophosmin Protein
            Expression and the Viral Load in HPV-Associated Oropharyngeal
            Squamous Cell Carcinoma: A Possible Tool for Stratification of
            Patients
  JOURNAL   Int J Mol Sci 24 (4), 3482 (2023)
   PUBMED   36834892
  REMARK    GeneRIF: Positive Linear Relationship between Nucleophosmin Protein
            Expression and the Viral Load in HPV-Associated Oropharyngeal
            Squamous Cell Carcinoma: A Possible Tool for Stratification of
            Patients.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 230)
  AUTHORS   Chin L, Wong CYG and Gill H.
  TITLE     Targeting and Monitoring Acute Myeloid Leukaemia with
            Nucleophosmin-1 (NPM1) Mutation
  JOURNAL   Int J Mol Sci 24 (4), 3161 (2023)
   PUBMED   36834572
  REMARK    GeneRIF: Targeting and Monitoring Acute Myeloid Leukaemia with
            Nucleophosmin-1 (NPM1) Mutation.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 230)
  AUTHORS   Fankhauser C, Izaurralde E, Adachi Y, Wingfield P and Laemmli UK.
  TITLE     Specific complex of human immunodeficiency virus type 1 rev and
            nucleolar B23 proteins: dissociation by the Rev response element
  JOURNAL   Mol Cell Biol 11 (5), 2567-2575 (1991)
   PUBMED   2017166
REFERENCE   7  (residues 1 to 230)
  AUTHORS   Venkatesh LK, Mohammed S and Chinnadurai G.
  TITLE     Functional domains of the HIV-1 rev gene required for
            trans-regulation and subcellular localization
  JOURNAL   Virology 176 (1), 39-47 (1990)
   PUBMED   2109912
REFERENCE   8  (residues 1 to 230)
  AUTHORS   Cochrane AW, Perkins A and Rosen CA.
  TITLE     Identification of sequences important in the nucleolar localization
            of human immunodeficiency virus Rev: relevance of nucleolar
            localization to function
  JOURNAL   J Virol 64 (2), 881-885 (1990)
   PUBMED   2404140
REFERENCE   9  (residues 1 to 230)
  AUTHORS   Zhang XX, Thomis DC and Samuel CE.
  TITLE     Isolation and characterization of a molecular cDNA clone of a human
            mRNA from interferon-treated cells encoding nucleolar protein B23,
            numatrin
  JOURNAL   Biochem Biophys Res Commun 164 (1), 176-184 (1989)
   PUBMED   2478125
REFERENCE   10 (residues 1 to 230)
  AUTHORS   Chan,P.K., Chan,W.Y., Yung,B.Y., Cook,R.G., Aldrich,M.B., Ku,D.,
            Goldknopf,I.L. and Busch,H.
  TITLE     Amino acid sequence of a specific antigenic peptide of protein B23
  JOURNAL   J Biol Chem 261 (30), 14335-14341 (1986)
   PUBMED   2429957
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091980.4 and AC093246.3.
            On Sep 1, 2017 this sequence version replaced XP_005265977.1.
            
            Summary: The protein encoded by this gene is involved in several
            cellular processes, including centrosome duplication, protein
            chaperoning, and cell proliferation. The encoded phosphoprotein
            shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning
            ribosomal proteins and core histones from the nucleus to the
            cytoplasm. This protein is also known to sequester the tumor
            suppressor ARF in the nucleolus, protecting it from degradation
            until it is needed. Mutations in this gene are associated with
            acute myeloid leukemia. Dozens of pseudogenes of this gene have
            been identified. [provided by RefSeq, Aug 2017].
            
            Transcript Variant: This variant (5) lacks an alternate in-frame
            exon and differs in the 3' UTR and coding sequence compared to
            variant 1. The resulting isoform (5) lacks an internal segment and
            has a shorter and distinct C-terminus compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.417223.1,
                                           SRR1163655.524404.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..230
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     Protein         1..230
                     /product="nucleophosmin isoform 5"
                     /note="nucleophosmin/nucleoplasmin family, member 1;
                     nucleolar protein NO38; testicular tissue protein Li 128;
                     nucleophosmin (nucleolar phosphoprotein B23, numatrin)"
                     /calculated_mol_wt=25159
     Region          18..117
                     /region_name="Nucleoplasmin"
                     /note="Nucleoplasmin/nucleophosmin domain; pfam03066"
                     /db_xref="CDD:427119"
     CDS             1..230
                     /gene="NPM1"
                     /gene_synonym="B23; NPM"
                     /coded_by="NM_001355009.2:101..793"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:4869"
                     /db_xref="HGNC:HGNC:7910"
                     /db_xref="MIM:164040"
ORIGIN      
        1 medsmdmdms plrpqnylfg celkadkdyh fkvdndeneh qlslrtvslg agakdelhiv
       61 eaeamnyegs pikvtlatlk msvqptvslg gfeitppvvl rlkcgsgpvh isgqhlvave
      121 edaesedeee edvkllsisg krsapgggsk vpqkkvklaa deddddddee dddedddddd
      181 fddeeaeeka pvkkgqesfk kqektpktpk gpssvedika kmqasiekah
//
LOCUS       NP_001091089             413 aa            linear   PRI 02-APR-2023
DEFINITION  transmembrane protein 184A [Homo sapiens].
ACCESSION   NP_001091089
VERSION     NP_001091089.1
DBSOURCE    REFSEQ: accession NM_001097620.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 413)
  AUTHORS   Pugh RJ, Slee JB, Farwell SL, Li Y, Barthol T, Patton WA and
            Lowe-Krentz LJ.
  TITLE     Transmembrane Protein 184A Is a Receptor Required for Vascular
            Smooth Muscle Cell Responses to Heparin
  JOURNAL   J Biol Chem 291 (10), 5326-5341 (2016)
   PUBMED   26769966
REFERENCE   2  (residues 1 to 413)
  AUTHORS   Farwell SL, Kanyi D, Hamel M, Slee JB, Miller EA, Cipolle MD and
            Lowe-Krentz LJ.
  TITLE     Heparin Decreases in Tumor Necrosis Factor alpha (TNFalpha)-induced
            Endothelial Stress Responses Require Transmembrane Protein 184A and
            Induction of Dual Specificity Phosphatase 1
  JOURNAL   J Biol Chem 291 (10), 5342-5354 (2016)
   PUBMED   26769965
  REMARK    GeneRIF: TMEM184A functions as a heparin receptor and mediates
            anti-inflammatory responses of endothelial cells involving
            decreased JNK and p38 activity.
REFERENCE   3  (residues 1 to 413)
  AUTHORS   Best D, Sahlender DA, Walther N, Peden AA and Adams IR.
  TITLE     Sdmg1 is a conserved transmembrane protein associated with germ
            cell sex determination and germline-soma interactions in mice
  JOURNAL   Development 135 (8), 1415-1425 (2008)
   PUBMED   18321981
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK172850.1, AC093734.3 and BM981655.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC026694.1, AK172850.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297477.10/ ENSP00000297477.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..413
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     Protein         1..413
                     /product="transmembrane protein 184A"
                     /note="sexually dimorphic, expressed in male gonads 1"
                     /calculated_mol_wt=45646
     Site            47..69
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMB5.1)"
     Region          55..329
                     /region_name="Solute_trans_a"
                     /note="Organic solute transporter Ostalpha; pfam03619"
                     /db_xref="CDD:427404"
     Site            93..113
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMB5.1)"
     Site            130..150
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMB5.1)"
     Site            187..207
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMB5.1)"
     Site            223..243
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMB5.1)"
     Site            258..278
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMB5.1)"
     Site            300..320
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMB5.1)"
     Region          372..413
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMB5.1)"
     CDS             1..413
                     /gene="TMEM184A"
                     /gene_synonym="SDMG1"
                     /coded_by="NM_001097620.2:93..1334"
                     /db_xref="CCDS:CCDS43537.1"
                     /db_xref="GeneID:202915"
                     /db_xref="HGNC:HGNC:28797"
ORIGIN      
        1 msnvsgilet agvplvsanw pqpspppavp agpqmdhmgn ssqgapwlfl tsalargvsg
       61 ifvwtalvlt chqiylhlrs ytvpqeqryi irlllivpiy afdswlslll lgdhqyyvyf
      121 dsvrdcyeaf viysflslcf qylggegaim aeirgkpiks sclygtcclr gmtysigflr
      181 fckqatlqfc lvkpvmavtt iilqafgkyh dgdfnvrsgy lyvtliynas vslalyalfl
      241 fyfttrellr pfqpvlkflt ikaviflsfw qglllailer cgvipevets ggnklgagtl
      301 aagyqnfiic vemlfasval ryafpcqvya ekkenspapp apmqsissgi retvspqdiv
      361 qdaihnfspa yqhytqqath eaprpgthps ggsggsrksr slekrmlips edl
//
LOCUS       NP_004093                133 aa            linear   PRI 03-APR-2023
DEFINITION  fatty acid-binding protein, heart isoform 2 [Homo sapiens].
ACCESSION   NP_004093
VERSION     NP_004093.1
DBSOURCE    REFSEQ: accession NM_004102.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 133)
  AUTHORS   Nguyen HC, Bu S, Nikfarjam S, Rasheed B, Michels DCR, Singh A,
            Singh S, Marszal C, McGuire JJ, Feng Q, Frisbee JC, Qadura M and
            Singh KK.
  TITLE     Loss of fatty acid binding protein 3 ameliorates
            lipopolysaccharide-induced inflammation and endothelial dysfunction
  JOURNAL   J Biol Chem 299 (3), 102921 (2023)
   PUBMED   36681124
  REMARK    GeneRIF: Loss of fatty acid binding protein 3 ameliorates
            lipopolysaccharide-induced inflammation and endothelial
            dysfunction.
REFERENCE   2  (residues 1 to 133)
  AUTHORS   Guo Q, Kawahata I, Cheng A, Wang H, Jia W, Yoshino H and Fukunaga
            K.
  TITLE     Fatty acid-binding proteins 3 and 5 are involved in the initiation
            of mitochondrial damage in ischemic neurons
  JOURNAL   Redox Biol 59, 102547 (2023)
   PUBMED   36481733
  REMARK    GeneRIF: Fatty acid-binding proteins 3 and 5 are involved in the
            initiation of mitochondrial damage in ischemic neurons.
REFERENCE   3  (residues 1 to 133)
  AUTHORS   Wu S, Kong X, Sun Y, Dai X, Yu W, Chen R, Ma L and Jiang L.
  TITLE     FABP3 overexpression promotes vascular fibrosis in Takayasu's
            arteritis by enhancing fatty acid oxidation in aorta adventitial
            fibroblasts
  JOURNAL   Rheumatology (Oxford) 61 (7), 3071-3081 (2022)
   PUBMED   34718429
  REMARK    GeneRIF: FABP3 overexpression promotes vascular fibrosis in
            Takayasu's arteritis by enhancing fatty acid oxidation in aorta
            adventitial fibroblasts.
REFERENCE   4  (residues 1 to 133)
  AUTHORS   Chen X, Hu SL, Feng Y, Li P, Mao QS and Xue WJ.
  TITLE     Expression of Fatty Acid-Binding Protein-3 in Gastrointestinal
            Stromal Tumors and Its Significance for Prognosis
  JOURNAL   J Surg Res 260, 462-466 (2021)
   PUBMED   33272594
  REMARK    GeneRIF: Expression of Fatty Acid-Binding Protein-3 in
            Gastrointestinal Stromal Tumors and Its Significance for Prognosis.
REFERENCE   5  (residues 1 to 133)
  AUTHORS   Lu YC, Lee TL, Hsuan CF, Hung WC, Wu CC, Wang CP, Wei CT, Yu TH,
            Chung FM, Lee YJ and Tsai IT.
  TITLE     Elevated plasma fatty acid-binding protein 3 is related to
            prolonged corrected QT interval and reduced ejection fraction in
            patients with stable angina
  JOURNAL   Int J Med Sci 18 (9), 2076-2085 (2021)
   PUBMED   33850478
  REMARK    GeneRIF: Elevated plasma fatty acid-binding protein 3 is related to
            prolonged corrected QT interval and reduced ejection fraction in
            patients with stable angina.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 133)
  AUTHORS   Zanotti G, Scapin G, Spadon P, Veerkamp JH and Sacchettini JC.
  TITLE     Three-dimensional structure of recombinant human muscle fatty
            acid-binding protein
  JOURNAL   J Biol Chem 267 (26), 18541-18550 (1992)
   PUBMED   1526991
REFERENCE   7  (residues 1 to 133)
  AUTHORS   Peeters RA, Veerkamp JH, Geurts van Kessel A, Kanda T and Ono T.
  TITLE     Cloning of the cDNA encoding human skeletal-muscle
            fatty-acid-binding protein, its peptide sequence and chromosomal
            localization
  JOURNAL   Biochem J 276 (Pt 1) (Pt 1), 203-207 (1991)
   PUBMED   1710107
REFERENCE   8  (residues 1 to 133)
  AUTHORS   Tanaka T, Hirota Y, Sohmiya K, Nishimura S and Kawamura K.
  TITLE     Serum and urinary human heart fatty acid-binding protein in acute
            myocardial infarction
  JOURNAL   Clin Biochem 24 (2), 195-201 (1991)
   PUBMED   2040092
REFERENCE   9  (residues 1 to 133)
  AUTHORS   Spener F, Unterberg C, Borchers T and Grosse R.
  TITLE     Characteristics of fatty acid-binding proteins and their relation
            to mammary-derived growth inhibitor
  JOURNAL   Mol Cell Biochem 98 (1-2), 57-68 (1990)
   PUBMED   2266970
  REMARK    Review article
REFERENCE   10 (residues 1 to 133)
  AUTHORS   Borchers T, Hojrup P, Nielsen SU, Roepstorff P, Spener F and
            Knudsen J.
  TITLE     Revision of the amino acid sequence of human heart fatty
            acid-binding protein
  JOURNAL   Mol Cell Biochem 98 (1-2), 127-133 (1990)
   PUBMED   2266954
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC007021.1 and AL451070.18.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The intracellular fatty acid-binding proteins (FABPs)
            belongs to a multigene family. FABPs are divided into at least
            three distinct types, namely the hepatic-, intestinal- and
            cardiac-type. They form 14-15 kDa proteins and are thought to
            participate in the uptake, intracellular metabolism and/or
            transport of long-chain fatty acids. They may also be responsible
            in the modulation of cell growth and proliferation. Fatty
            acid-binding protein 3 gene contains four exons and its function is
            to arrest growth of mammary epithelial cells. This gene is a
            candidate tumor suppressor gene for human breast cancer.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.53081.1,
                                           SRR5189655.26926.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151741, SAMEA2154361
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373713.7/ ENSP00000362817.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..133
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.2"
     Protein         1..133
                     /product="fatty acid-binding protein, heart isoform 2"
                     /note="mammary-derived growth inhibitor; fatty acid
                     binding protein 11; muscle fatty acid-binding protein;
                     heart-type fatty acid-binding protein; epididymis
                     secretory sperm binding protein; fatty acid binding
                     protein 3, muscle and heart"
                     /calculated_mol_wt=14727
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylvaline.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (P05413.4)"
     Region          4..131
                     /region_name="FABP3"
                     /note="fatty acid binding protein 3; cd19466"
                     /db_xref="CDD:381241"
     Site            order(5,17,20..21,24,26,30..31,34,37,39,41,43,50,52,54,56,
                     58..59,61,63,65,73..77,79,92,94,105,107,114,116,118,127,
                     129)
                     /site_type="other"
                     /note="ligand binding cavity [chemical binding]"
                     /db_xref="CDD:381241"
     Site            8
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P07483; propagated from
                     UniProtKB/Swiss-Prot (P05413.4)"
     Site            20
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by Tyr-kinases.
                     /evidence=ECO:0000250|UniProtKB:P07483; propagated from
                     UniProtKB/Swiss-Prot (P05413.4)"
     Site            23
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P07483; propagated from
                     UniProtKB/Swiss-Prot (P05413.4)"
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P07483; propagated from
                     UniProtKB/Swiss-Prot (P05413.4)"
     Site            83
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P07483; propagated from
                     UniProtKB/Swiss-Prot (P05413.4)"
     CDS             1..133
                     /gene="FABP3"
                     /gene_synonym="FABP11; H-FABP; M-FABP; MDGI; O-FABP"
                     /coded_by="NM_004102.5:63..464"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS342.1"
                     /db_xref="GeneID:2170"
                     /db_xref="HGNC:HGNC:3557"
                     /db_xref="MIM:134651"
ORIGIN      
        1 mvdaflgtwk lvdsknfddy mkslgvgfat rqvasmtkpt tiiekngdil tlkthstfkn
       61 teisfklgve fdettaddrk vksivtldgg klvhlqkwdg qettlvreli dgkliltlth
      121 gtavctrtye kea
//
LOCUS       NP_001354819            1040 aa            linear   PRI 10-APR-2023
DEFINITION  PR domain zinc finger protein 10 isoform 10 [Homo sapiens].
ACCESSION   NP_001354819
VERSION     NP_001354819.1
DBSOURCE    REFSEQ: accession NM_001367890.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1040)
  AUTHORS   Zhao M, Yin X, He H, Fan Y, Ru G and Meng X.
  TITLE     Recurrent PRDM10 Fusions in Superficial CD34-Positive Fibroblastic
            Tumors : A Clinicopathologic and Molecular Study of 10 Additional
            Cases of an Emerging Novel Entity
  JOURNAL   Am J Clin Pathol 159 (4), 367-378 (2023)
   PUBMED   36812381
  REMARK    GeneRIF: Recurrent PRDM10 Fusions in Superficial CD34-Positive
            Fibroblastic Tumors : A Clinicopathologic and Molecular Study of 10
            Additional Cases of an Emerging Novel Entity.
REFERENCE   2  (residues 1 to 1040)
  AUTHORS   van de Beek I, Glykofridis IE, Oosterwijk JC, van den Akker PC,
            Diercks GFH, Bolling MC, Waisfisz Q, Mensenkamp AR, Balk JA, Zwart
            R, Postma AV, Meijers-Heijboer HEJ, van Moorselaar RJA, Wolthuis
            RMF and Houweling AC.
  TITLE     PRDM10 directs FLCN expression in a novel disorder overlapping with
            Birt-Hogg-Dube syndrome and familial lipomatosis
  JOURNAL   Hum Mol Genet 32 (7), 1223-1235 (2023)
   PUBMED   36440963
  REMARK    GeneRIF: PRDM10 directs FLCN expression in a novel disorder
            overlapping with Birt-Hogg-Dube syndrome and familial lipomatosis.
REFERENCE   3  (residues 1 to 1040)
  AUTHORS   Hofvander J, Puls F, Pillay N, Steele CD, Flanagan AM, Magnusson L,
            Nilsson J and Mertens F.
  TITLE     Undifferentiated pleomorphic sarcomas with PRDM10 fusions have a
            distinct gene expression profile
  JOURNAL   J Pathol 249 (4), 425-434 (2019)
   PUBMED   31313299
  REMARK    GeneRIF: PRDM10-fusions represent the critical driver mutations in
            undifferentiated pleomorphic sarcomas.
REFERENCE   4  (residues 1 to 1040)
  AUTHORS   Chen N, Hu T, Gui Y, Gao J, Li Z and Huang S.
  TITLE     Transcriptional regulation of Bcl-2 gene by the PR/SET domain
            family member PRDM10
  JOURNAL   PeerJ 7, e6941 (2019)
   PUBMED   31143550
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1040)
  AUTHORS   Schrors B, Lubcke S, Lennerz V, Fatho M, Bicker A, Wolfel C, Derigs
            P, Hankeln T, Schadendorf D, Paschen A and Wolfel T.
  TITLE     HLA class I loss in metachronous metastases prevents continuous T
            cell recognition of mutated neoantigens in a human melanoma model
  JOURNAL   Oncotarget 8 (17), 28312-28327 (2017)
   PUBMED   28423700
REFERENCE   6  (residues 1 to 1040)
  AUTHORS   Hofvander J, Tayebwa J, Nilsson J, Magnusson L, Brosjo O, Larsson
            O, Vult von Steyern F, Mandahl N, Fletcher CD and Mertens F.
  TITLE     Recurrent PRDM10 gene fusions in undifferentiated pleomorphic
            sarcoma
  JOURNAL   Clin Cancer Res 21 (4), 864-869 (2015)
   PUBMED   25516889
  REMARK    GeneRIF: Our results suggest that PRDM10 fusions are present in
            around 5% of Undifferentiated pleomorphic sarcoma
REFERENCE   7  (residues 1 to 1040)
  AUTHORS   Bhatti P, Doody MM, Rajaraman P, Alexander BH, Yeager M, Hutchinson
            A, Burdette L, Thomas G, Hunter DJ, Simon SL, Weinstock RM,
            Rosenstein M, Stovall M, Preston DL, Linet MS, Hoover RN, Chanock
            SJ and Sigurdson AJ.
  TITLE     Novel breast cancer risk alleles and interaction with ionizing
            radiation among U.S. radiologic technologists
  JOURNAL   Radiat Res 173 (2), 214-224 (2010)
   PUBMED   20095854
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   8  (residues 1 to 1040)
  AUTHORS   Hosgood HD 3rd, Zhang L, Shen M, Berndt SI, Vermeulen R, Li G, Yin
            S, Yeager M, Yuenger J, Rothman N, Chanock S, Smith M and Lan Q.
  TITLE     Association between genetic variants in VEGF, ERCC3 and
            occupational benzene haematotoxicity
  JOURNAL   Occup Environ Med 66 (12), 848-853 (2009)
   PUBMED   19773279
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 1040)
  AUTHORS   Siegel DA, Huang MK and Becker SF.
  TITLE     Ectopic dendrite initiation: CNS pathogenesis as a model of CNS
            development
  JOURNAL   Int J Dev Neurosci 20 (3-5), 373-389 (2002)
   PUBMED   12175877
  REMARK    Erratum:[Int J Dev Neurosci. 2003 May;21(3):169-70]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003041.3, AP003326.2 and
            AP003327.3.
            
            Summary: The protein encoded by this gene is a transcription factor
            that contains C2H2-type zinc-fingers. It also contains a positive
            regulatory domain, which has been found in several other
            zinc-finger transcription factors including those involved in B
            cell differentiation and tumor suppression. Studies of the mouse
            counterpart suggest that this protein may be involved in the
            development of the central nerve system (CNS), as well as in the
            pathogenesis of neuronal storage disease. Multiple alternatively
            spliced transcript variants encoding distinct isoforms have been
            observed. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.143423.1,
                                           SRR1803617.49949.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1040
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.3"
     Protein         1..1040
                     /product="PR domain zinc finger protein 10 isoform 10"
                     /note="PRDM zinc finger transcription factor; PR-domain
                     family member 7; PR domain zinc finger protein 10;
                     tristanin; PR domain-containing protein 10; PR domain
                     containing 10; PR domain 10"
                     /calculated_mol_wt=117224
     Region          <173..200
                     /region_name="zf_PR_Knuckle"
                     /note="PR zinc knuckle motif; pfam18445"
                     /db_xref="CDD:375871"
     Region          203..334
                     /region_name="PR-SET_PRDM10"
                     /note="PR-SET domain found in PR domain zinc finger
                     protein 10 (PRDM10) and similar proteins; cd19194"
                     /db_xref="CDD:380971"
     Site            order(218..219,236,272,285..289,291,300..301,325)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:380971"
     Site            order(218..219,285..289,291,325)
                     /site_type="other"
                     /note="putative SAM binding site"
                     /db_xref="CDD:380971"
     Site            325
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:380971"
     Region          <409..510
                     /region_name="Tristanin_u2"
                     /note="Unstructured region on methyltransferase between
                     zinc-fingers; pfam16638"
                     /db_xref="CDD:435482"
     Region          512..533
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          524..546
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          526..546
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          554..575
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          609..630
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <724..>898
                     /region_name="SP1-4_N"
                     /note="N-terminal domain of transcription factor
                     Specificity Proteins (SP) 1-4; cl41773"
                     /db_xref="CDD:425404"
     CDS             1..1040
                     /gene="PRDM10"
                     /gene_synonym="PFM7; TRIS"
                     /coded_by="NM_001367890.1:233..3355"
                     /note="isoform 10 is encoded by transcript variant 10"
                     /db_xref="GeneID:56980"
                     /db_xref="HGNC:HGNC:13995"
                     /db_xref="MIM:618319"
ORIGIN      
        1 mdskdesshv wptsaeheqn aaqvhfvpdt gtvaqivytd dqvrppqqvv ytadgasyts
       61 vdgpehtlvy ihpveaaqtl ftdpgqvayv qqdataqqas lpvhnqvlps iesvdgsdpl
      121 atlqtplgrl eakeeedede dedteedeee dgedtdlddw epdpprpfdp hdlwceecnn
      181 ahasvcpkhg plhpipnrpv ltraraslpl vlyidrflgg vfskrripkr tqfgpvegpl
      241 vrgselkdcy ihlkvsldkg drkerdlhed lwfelsdetl cnwmmfvrpa qnhleqnlva
      301 yqyghhvyyt tiknvepkqe lkvwyaasya efvnqkihdi seeerkvlre qeknwpcyec
      361 nrrfisseql qqhlnshdek ldvfsrtrgr grgrgkrrfg pgrrpgrppk firleitsen
      421 geksddgtqd llhfptkeqf deaepatlng ldqpeqttip ipqlpqetqs slehepetht
      481 lhlqpqhees vvptqstlta ddmrrakrir vkkhvrsfhs ekiyqctecd kafcrpdklr
      541 lhmlrhsdrk dflcstcgkq fkrkdklreh mqrmhnpere akkadrisrs ktfkpritst
      601 dydsftfkcr lcmmgfrrrg mlvnhlskrh pdmkieevpe ltlpiikpnr dyfcqycdkv
      661 yksaskrkah ilknhpgael ppsirklrpa gpgepdpmls thtqltgtia tppvccphcs
      721 kqyssktkmv qhirkkhpef aqlsntihtp lttavisatp avlttdsatg etvvttdllt
      781 qamtelsqtl ttdyrtpqgd yqriqyipvs qsasglqqpq hiqlqvvqva satsphqsqq
      841 stvdvgqlhd pqpypqhaiq vqhiqvsept asapssaqvs gqplspsaqq aqqglspshi
      901 qgssstqgqa lqqqqqqqqn ssvqhtylps awnsfrgyss eiqmmtlppg qfvitdsgva
      961 tpvttgqvka vtsghyvlse sqseleekqt salsggvqve ppahsdsldp qtnsqqqttq
     1021 yiittttngn gssevhitkp
//
LOCUS       NP_001290208             961 aa            linear   PRI 18-DEC-2022
DEFINITION  unconventional myosin-Id isoform 2 [Homo sapiens].
ACCESSION   NP_001290208
VERSION     NP_001290208.1
DBSOURCE    REFSEQ: accession NM_001303279.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 961)
  AUTHORS   Benesh AE, Fleming JT, Chiang C, Carter BD and Tyska MJ.
  TITLE     Expression and localization of myosin-1d in the developing nervous
            system
  JOURNAL   Brain Res 1440, 9-22 (2012)
   PUBMED   22284616
REFERENCE   2  (residues 1 to 961)
  AUTHORS   Hendrickx A, Beullens M, Ceulemans H, Den Abt T, Van Eynde A,
            Nicolaescu E, Lesage B and Bollen M.
  TITLE     Docking motif-guided mapping of the interactome of protein
            phosphatase-1
  JOURNAL   Chem Biol 16 (4), 365-371 (2009)
   PUBMED   19389623
REFERENCE   3  (residues 1 to 961)
  AUTHORS   Gonzalez-Begne M, Lu B, Han X, Hagen FK, Hand AR, Melvin JE and
            Yates JR.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   4  (residues 1 to 961)
  AUTHORS   Hasson T, Skowron JF, Gilbert DJ, Avraham KB, Perry WL, Bement WM,
            Anderson BL, Sherr EH, Chen ZY, Greene LA, Ward DC, Corey DP,
            Mooseker MS, Copeland NG and Jenkins NA.
  TITLE     Mapping of unconventional myosins in mouse and human
  JOURNAL   Genomics 36 (3), 431-439 (1996)
   PUBMED   8884266
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC030602.2, AK127942.1, AB018270.2 and DB363168.1.
            
            Transcript Variant: This variant (2) contains an alternate 3'
            terminal exon, resulting in a different 3' coding region and 3'
            UTR, compared to variant 1. The encoded isoform (2) has a distinct
            C-terminus and is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK127942.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..961
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     Protein         1..961
                     /product="unconventional myosin-Id isoform 2"
                     /note="myosin-I gamma; unconventional myosin-Id; protein
                     phosphatase 1, regulatory subunit 108"
                     /calculated_mol_wt=111159
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.4;
                     propagated from UniProtKB/Swiss-Prot (O94832.2)"
     Region          24..682
                     /region_name="MYSc_Myo1"
                     /note="class I myosin, motor domain; cd01378"
                     /db_xref="CDD:276829"
     Site            order(50..53,58,102..109,151..161,383..388)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276829"
     Site            order(50..53,58)
                     /site_type="other"
                     /note="purine-binding loop"
                     /db_xref="CDD:276829"
     Site            102..109
                     /site_type="other"
                     /note="P-loop"
                     /db_xref="CDD:276829"
     Site            151..161
                     /site_type="other"
                     /note="switch I region"
                     /db_xref="CDD:276829"
     Site            200
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O94832.2)"
     Site            383..388
                     /site_type="other"
                     /note="switch II region"
                     /db_xref="CDD:276829"
     Site            order(412..423,426..433,435)
                     /site_type="other"
                     /note="relay loop"
                     /db_xref="CDD:276829"
     Site            536
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q5SYD0; propagated from
                     UniProtKB/Swiss-Prot (O94832.2)"
     Region          572..594
                     /region_name="Actin-binding.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00782"
                     /note="propagated from UniProtKB/Swiss-Prot (O94832.2)"
     Site            614..624
                     /site_type="other"
                     /note="SH1 helix"
                     /db_xref="CDD:276829"
     Site            order(626..652,669..682)
                     /site_type="other"
                     /note="converter subdomain"
                     /db_xref="CDD:276829"
     Region          803..>957
                     /region_name="Myosin_TH1"
                     /note="Unconventional myosin tail, actin- and
                     lipid-binding; pfam06017"
                     /db_xref="CDD:428724"
     CDS             1..961
                     /gene="MYO1D"
                     /gene_synonym="myr4; PPP1R108"
                     /coded_by="NM_001303279.2:253..3138"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS76991.1"
                     /db_xref="GeneID:4642"
                     /db_xref="HGNC:HGNC:7598"
                     /db_xref="MIM:606539"
ORIGIN      
        1 maeqeslefg kadfvlmdtv smpefmanlr lrfekgriyt figevvvsvn pykllniygr
       61 dtieqykgre lyerpphlfa iadaaykamk rrskdtcivi sgesgagkte askyimqyia
      121 aitnpsqrae vervknmllk sncvleafgn aktnrndnss rfgkymdinf dfkgdpiggh
      181 innylleksr vivqqpgers fhsfyqllqg gseqmlrslh lqkslssyny ihvgaqlkss
      241 indaaefrvv adamkvigfk peeiqtvyki laailhlgnl kfvvdgdtpl iengkvvsii
      301 aellstktdm vekallyrtv atgrdiidkq hteqeasygr dafakaiyer lfcwivtrin
      361 diievknydt tihgkntvig vldiygfeif dnnsfeqfci nycneklqql fiqlvlkqeq
      421 eeyqregipw khidyfnnqi ivdlveqqhk giiailddac mnvgkvtdem flealnsklg
      481 khahfssrkl casdkilefd rdfrirhyag dvvysvigfi dknkdtlfqd fkrlmynssn
      541 pvlknmwpeg klsitevtkr pltaatlfkn smialvdnla skepyyvrci kpndkkspqi
      601 fddercrhqv eylgllenvr vrragfafrq tyekflhryk miseftwpnh dlpsdkeavk
      661 kliercgfqd dvaygktkif irtprtlftl eelraqmlir ivlflqkvwr gtlarmrykr
      721 tkaaltiiry yrrykvksyi hevarrfhgv ktmrdygkhv kwpsppkvlr rfeealqtif
      781 nrwrasqlik sipasdlpqv rakvaaveml kgqradlglq rawegnylas kpdtpqtsgt
      841 fvpvanelkr kdkymnvlfs chvrkvnrfs kvedraifvt drhlykmdpt kqykvmktip
      901 lynltglsvs ngkdqlvvfh tkdnkdlivc lfskqpthes rigelvgvlv nhfkrnhlli
      961 l
//
LOCUS       NP_001342203             334 aa            linear   PRI 25-DEC-2022
DEFINITION  rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1 [Homo
            sapiens].
ACCESSION   NP_001342203 XP_001722581 XP_001725399 XP_293903
VERSION     NP_001342203.1
DBSOURCE    REFSEQ: accession NM_001355274.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 334)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC020894.5.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript is intronless :: ERR279832.1192.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338333.5/ ENSP00000473383.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..334
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q34"
     Protein         1..334
                     /product="rRNA/tRNA 2'-O-methyltransferase
                     fibrillarin-like protein 1"
                     /note="protein-glutamine methyltransferase"
                     /calculated_mol_wt=34672
     Region          1..97
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NHQ2.2)"
     Site            15
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q80WS3; propagated from
                     UniProtKB/Swiss-Prot (A6NHQ2.2)"
     Region          90..331
                     /region_name="PTZ00146"
                     /note="fibrillarin; Provisional"
                     /db_xref="CDD:240291"
     CDS             1..334
                     /gene="FBLL1"
                     /coded_by="NM_001355274.2:201..1205"
                     /db_xref="CCDS:CCDS87345.1"
                     /db_xref="GeneID:345630"
                     /db_xref="HGNC:HGNC:35458"
ORIGIN      
        1 mksaassrgg ggggrggggw gswgggrggg ggagkggggd gggqggkggf garargfggg
       61 grgrgrgggd gkdrggggqr rggvaksksr rrkgamvvsv ephrhegvfi yrgaedalvt
      121 lnmvpgqsvy gerrvtvteg gvkqeyrtwn pfrsklaaai lggvdqihik pkskvlylga
      181 asgttvshvs diigpdglvy avefshragr dlvnvakkrt niipvledar hplkyrmlig
      241 mvdvifadva qpdqsrival nahtflrngg hflisikanc idstasaeav fasevrklqq
      301 enlkpqeqlt lepyerdhav vvgvyrplpk sssk
//
LOCUS       NP_001356709             232 aa            linear   PRI 25-DEC-2022
DEFINITION  protein lin-37 homolog isoform 2 [Homo sapiens].
ACCESSION   NP_001356709
VERSION     NP_001356709.1
DBSOURCE    REFSEQ: accession NM_001369780.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 232)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 232)
  AUTHORS   Uxa S, Bernhart SH, Mages CFS, Fischer M, Kohler R, Hoffmann S,
            Stadler PF, Engeland K and Muller GA.
  TITLE     DREAM and RB cooperate to induce gene repression and cell-cycle
            arrest in response to p53 activation
  JOURNAL   Nucleic Acids Res 47 (17), 9087-9103 (2019)
   PUBMED   31400114
  REMARK    GeneRIF: Abrogation of DREAM function by knockout of the DREAM
            component LIN37 results in a reduced repression of cell-cycle
            genes.
REFERENCE   3  (residues 1 to 232)
  AUTHORS   Litovchick L, Florens LA, Swanson SK, Washburn MP and DeCaprio JA.
  TITLE     DYRK1A protein kinase promotes quiescence and senescence through
            DREAM complex assembly
  JOURNAL   Genes Dev 25 (8), 801-813 (2011)
   PUBMED   21498570
REFERENCE   4  (residues 1 to 232)
  AUTHORS   Litovchick L, Sadasivam S, Florens L, Zhu X, Swanson SK, Velmurugan
            S, Chen R, Washburn MP, Liu XS and DeCaprio JA.
  TITLE     Evolutionarily conserved multisubunit RBL2/p130 and E2F4 protein
            complex represses human cell cycle-dependent genes in quiescence
  JOURNAL   Mol Cell 26 (4), 539-551 (2007)
   PUBMED   17531812
REFERENCE   5  (residues 1 to 232)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   6  (residues 1 to 232)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A,
            Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel
            S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA,
            Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J,
            Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M,
            Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W,
            Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V,
            Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready
            P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S,
            Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer
            J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D,
            Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo
            N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS,
            DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA,
            Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM and Lucas
            SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AD000671.1, AC002398.1, KC877720.1 and KC877725.1.
            
            Summary: This gene encodes a protein expressed in the eye.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (2) is
            shorter at the N-terminus compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.267253.1,
                                           SRR7410570.653592.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..232
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     Protein         1..232
                     /product="protein lin-37 homolog isoform 2"
                     /note="protein F25965; protein lin-37 homolog;
                     antolefinin"
                     /calculated_mol_wt=26607
     Region          70..226
                     /region_name="LIN37"
                     /note="pfam15306"
                     /db_xref="CDD:434616"
     CDS             1..232
                     /gene="LIN37"
                     /gene_synonym="F25965; lin-37; ZK418.4"
                     /coded_by="NM_001369780.1:206..904"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:55957"
                     /db_xref="HGNC:HGNC:33234"
ORIGIN      
        1 makarnqlda vlqclleksh mdrerldeea gktpsdthnk dcsiaatgkr psarfphqrr
       61 kkrremddgl aeggpqrsnt yviklfdrsv dlaqfsentp lypicrawmr nspsvrerec
      121 spssplpplp edeegsevtn sksrdvyklp pptppgppgd acrsripspl qpemqgtpdd
      181 epsepepsps tliyrnmqrw krirqrwkea shrnqlryse smkilremye rq
//
LOCUS       NP_776164                147 aa            linear   PRI 26-DEC-2022
DEFINITION  mpv17-like protein isoform 2 [Homo sapiens].
ACCESSION   NP_776164
VERSION     NP_776164.2
DBSOURCE    REFSEQ: accession NM_173803.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 147)
  AUTHORS   Iida R, Ueki M and Yasuda T.
  TITLE     Human Mpv17-like protein with a mitigating effect on mtDNA damage
            is involved in cAMP/PKA signaling in the mitochondrial matrix
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1867 (10), 118792 (2020)
   PUBMED   32621840
  REMARK    GeneRIF: Human Mpv17-like protein with a mitigating effect on mtDNA
            damage is involved in cAMP/PKA signaling in the mitochondrial
            matrix.
REFERENCE   2  (residues 1 to 147)
  AUTHORS   Iida R, Ueki M and Yasuda T.
  TITLE     Identification of interacting partners of Human Mpv17-like protein
            with a mitigating effect of mitochondrial dysfunction through mtDNA
            damage
  JOURNAL   Free Radic Biol Med 87, 336-345 (2015)
   PUBMED   26165189
  REMARK    GeneRIF: these observations suggest that M-LPH is involved in the
            maintenance of mtDNA and protects cells from mitochondrial
            dysfunction.
REFERENCE   3  (residues 1 to 147)
  AUTHORS   Iida R, Ueki M and Yasuda T.
  TITLE     Identification of Rhit as a novel transcriptional repressor of
            human Mpv17-like protein with a mitigating effect on mitochondrial
            dysfunction, and its transcriptional regulation by FOXD3 and GABP
  JOURNAL   Free Radic Biol Med 52 (8), 1413-1422 (2012)
   PUBMED   22306510
REFERENCE   4  (residues 1 to 147)
  AUTHORS   Ghosh D and Berg JM.
  TITLE     A proteome-wide perspective on peroxisome targeting signal
            1(PTS1)-Pex5p affinities
  JOURNAL   J Am Chem Soc 132 (11), 3973-3979 (2010)
   PUBMED   20178365
REFERENCE   5  (residues 1 to 147)
  AUTHORS   Iida R, Yasuda T, Tsubota E, Takatsuka H, Matsuki T and Kishi K.
  TITLE     Human Mpv17-like protein is localized in peroxisomes and regulates
            expression of antioxidant enzymes
  JOURNAL   Biochem Biophys Res Commun 344 (3), 948-954 (2006)
   PUBMED   16631601
REFERENCE   6  (residues 1 to 147)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM838624.1, DQ004256.1 and AC140504.2.
            On Jun 15, 2008 this sequence version replaced NP_776164.1.
            
            Transcript Variant: This variant (2) lacks an alternate segment,
            which shifts the reading frame, compared to variant 1. The
            resulting protein (isoform 2) has a shorter and distinct C-terminus
            when it is compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ004256.1, AK096918.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..147
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.11"
     Protein         1..147
                     /product="mpv17-like protein isoform 2"
                     /note="Mpv17-like protein type 1; Mpv17-like protein type
                     2; M-LP homolog; MPV17 mitochondrial membrane
                     protein-like"
                     /calculated_mol_wt=16595
     Region          16..55
                     /region_name="Targeting to peroxisomes.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2QL34.1)"
     Site            17..34
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2QL34.1)"
     Site            51..67
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2QL34.1)"
     CDS             1..147
                     /gene="MPV17L"
                     /gene_synonym="M-LPH; MLPH1; MLPH2; MPV17L1"
                     /coded_by="NM_173803.4:145..588"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS10560.1"
                     /db_xref="GeneID:255027"
                     /db_xref="HGNC:HGNC:26827"
                     /db_xref="MIM:618100"
ORIGIN      
        1 magwwpalsr aarrhpwptn vllygslvsa gdalqqrlqg reanwrqtrr vatlvvtfha
       61 nfnyvwlrll eralpgraph allakllcdq vvgapiavsa fyvewtdvla lctadqlqpc
      121 scsmenslrw slwfslghlh lffpaew
//
LOCUS       NP_001351447             586 aa            linear   PRI 26-DEC-2022
DEFINITION  pre-mRNA-splicing factor SLU7 isoform b [Homo sapiens].
ACCESSION   NP_001351447
VERSION     NP_001351447.1
DBSOURCE    REFSEQ: accession NM_001364518.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 586)
  AUTHORS   Garate-Rascon M, Recalde M, Rojo C, Fernandez-Barrena MG, Avila MA,
            Arechederra M and Berasain C.
  TITLE     SLU7: A New Hub of Gene Expression Regulation-From Epigenetics to
            Protein Stability in Health and Disease
  JOURNAL   Int J Mol Sci 23 (21), 13411 (2022)
   PUBMED   36362191
  REMARK    GeneRIF: SLU7: A New Hub of Gene Expression Regulation-From
            Epigenetics to Protein Stability in Health and Disease.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 586)
  AUTHORS   Garate-Rascon M, Recalde M, Jimenez M, Elizalde M, Azkona M,
            Uriarte I, Latasa MU, Urtasun R, Bilbao I, Sangro B, Garcia-Ruiz C,
            Fernandez-Checa JC, Corrales FJ, Esquivel A, Pineda-Lucena A,
            Fernandez-Barrena MG, Avila MA, Arechederra M and Berasain C.
  TITLE     Splicing Factor SLU7 Prevents Oxidative Stress-Mediated Hepatocyte
            Nuclear Factor 4alpha Degradation, Preserving Hepatic
            Differentiation and Protecting From Liver Damage
  JOURNAL   Hepatology 74 (5), 2791-2807 (2021)
   PUBMED   34170569
  REMARK    GeneRIF: Splicing Factor SLU7 Prevents Oxidative Stress-Mediated
            Hepatocyte Nuclear Factor 4alpha Degradation, Preserving Hepatic
            Differentiation and Protecting From Liver Damage.
REFERENCE   3  (residues 1 to 586)
  AUTHORS   Recalde M, Garate-Rascon M, Elizalde M, Azkona M, Latasa MU,
            Barcena-Varela M, Sangro B, Fernandez-Barrena MG, Avila MA,
            Arechederra M and Berasain C.
  TITLE     The splicing regulator SLU7 is required to preserve DNMT1 protein
            stability and DNA methylation
  JOURNAL   Nucleic Acids Res 49 (15), 8592-8609 (2021)
   PUBMED   34331453
  REMARK    GeneRIF: The splicing regulator SLU7 is required to preserve DNMT1
            protein stability and DNA methylation.
REFERENCE   4  (residues 1 to 586)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 586)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 586)
  AUTHORS   Shomron N, Reznik M and Ast G.
  TITLE     Splicing factor hSlu7 contains a unique functional domain required
            to retain the protein within the nucleus
  JOURNAL   Mol Biol Cell 15 (8), 3782-3795 (2004)
   PUBMED   15181151
  REMARK    GeneRIF: The zinc-knuckle motif of hSlu7 determines the cellular
            localization of the protein through a nucleocytoplasmic-sensitive
            shuttling balance.
REFERENCE   7  (residues 1 to 586)
  AUTHORS   Jurica MS, Licklider LJ, Gygi SR, Grigorieff N and Moore MJ.
  TITLE     Purification and characterization of native spliceosomes suitable
            for three-dimensional structural analysis
  JOURNAL   RNA 8 (4), 426-439 (2002)
   PUBMED   11991638
REFERENCE   8  (residues 1 to 586)
  AUTHORS   Chua K and Reed R.
  TITLE     An upstream AG determines whether a downstream AG is selected
            during catalytic step II of splicing
  JOURNAL   Mol Cell Biol 21 (5), 1509-1514 (2001)
   PUBMED   11238888
REFERENCE   9  (residues 1 to 586)
  AUTHORS   Chua K and Reed R.
  TITLE     The RNA splicing factor hSlu7 is required for correct 3'
            splice-site choice
  JOURNAL   Nature 402 (6758), 207-210 (1999)
   PUBMED   10647016
REFERENCE   10 (residues 1 to 586)
  AUTHORS   Chua K and Reed R.
  TITLE     Human step II splicing factor hSlu7 functions in restructuring the
            spliceosome between the catalytic steps of splicing
  JOURNAL   Genes Dev 13 (7), 841-850 (1999)
   PUBMED   10197984
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091842.3.
            
            Summary: Pre-mRNA splicing occurs in two sequential
            transesterification steps. The protein encoded by this gene is a
            splicing factor that has been found to be essential during the
            second catalytic step in the pre-mRNA splicing process. It
            associates with the spliceosome and contains a zinc knuckle motif
            that is found in other splicing factors and is involved in
            protein-nucleic acid and protein-protein interactions. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3), as well as variants 2, 4, and
            5, encodes isoform b.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803612.176674.1, SRR1803611.171033.1
                                    [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..586
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.3"
     Protein         1..586
                     /product="pre-mRNA-splicing factor SLU7 isoform b"
                     /note="step II splicing factor SLU7; zinc knuckle motif
                     containing; pre-mRNA-splicing factor SLU7; SLU7 splicing
                     factor homolog"
                     /calculated_mol_wt=68256
     Region          1..63
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95391.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (O95391.2)"
     Region          77..100
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95391.2)"
     Region          129..169
                     /region_name="Bipartite nuclear localization signal"
                     /note="propagated from UniProtKB/Swiss-Prot (O95391.2)"
     Region          161..434
                     /region_name="Slu7"
                     /note="Pre-mRNA splicing Prp18-interacting factor;
                     pfam11708"
                     /db_xref="CDD:432016"
     Region          206..254
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95391.2)"
     Site            215
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O95391.2)"
     Site            227
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95391.2)"
     Site            235
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O95391.2)"
     Region          496..586
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95391.2)"
     CDS             1..586
                     /gene="SLU7"
                     /gene_synonym="9G8; hSlu7"
                     /coded_by="NM_001364518.2:501..2261"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS4352.1"
                     /db_xref="GeneID:10569"
                     /db_xref="HGNC:HGNC:16939"
                     /db_xref="MIM:605974"
ORIGIN      
        1 msatvvdavn aaplsgskem sleepkkmtr edwrkkkele eqrklgnapa evdeegkdin
       61 phipqyissv pwyidpskrp tlkhqrpqpe kqkqfsssge wykrgvkens iitkyrkgac
      121 encgamthkk kdcferprrv gakftgtnia pdehvqpqlm fdydgkrdrw ngynpeehmk
      181 iveeyakvdl akrtlkaqkl qeelasgklv eqanspkhqw geeepnsqme kdhnsedede
      241 dkyaddidmp gqnfdskrri tvrnlrired iakylrnldp nsayydpktr amrenpyana
      301 gknpdevsya gdnfvrytgd tismaqtqlf aweaydkgse vhlqadptkl ellyksfkvk
      361 kedfkeqqke silekyggqe hldappaell laqtedyvey srhgtvikgq eravacskye
      421 edvkihnhth iwgsywkegr wgykcchsff kysyctgeag keivnseeci ineitgeesv
      481 kkpqtlmelh qeklkeekkk kkkkkkkhrk sssdsddeek kheklkkaln aeearllhvk
      541 etmqiderkr pynsmyetre pteeemeayr mkrqrpddpm asflgq
//
LOCUS       NP_001289937             285 aa            linear   PRI 27-DEC-2022
DEFINITION  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 [Homo sapiens].
ACCESSION   NP_001289937 XP_005249031 XP_005272840 XP_005274986 XP_005275143
            XP_005275282 XP_005275418 XP_005275579
VERSION     NP_001289937.1
DBSOURCE    REFSEQ: accession NM_001303008.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 285)
  AUTHORS   Kozlova AA, Vaganova AN, Rodionov RN, Gainetdinov RR and Bernhardt
            N.
  TITLE     Assessment of DDAH1 and DDAH2 Contributions to Psychiatric
            Disorders via In Silico Methods
  JOURNAL   Int J Mol Sci 23 (19), 11902 (2022)
   PUBMED   36233204
  REMARK    GeneRIF: Assessment of DDAH1 and DDAH2 Contributions to Psychiatric
            Disorders via In Silico Methods.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 285)
  AUTHORS   Chen W, Wang H, Liu J and Li K.
  TITLE     Interference of KLF9 relieved the development of gestational
            diabetes mellitus by upregulating DDAH2
  JOURNAL   Bioengineered 13 (1), 395-406 (2022)
   PUBMED   34787071
  REMARK    GeneRIF: Interference of KLF9 relieved the development of
            gestational diabetes mellitus by upregulating DDAH2.
REFERENCE   3  (residues 1 to 285)
  AUTHORS   Faramarzi E, Aftabi Y, Ansarin K, Somi MH, Gilani N and
            Seyedrezazadeh E.
  TITLE     Polymorphism (-499C/G) in DDAH2 promoter may act as a protective
            factor for metabolic syndrome: A case-control study in Azar-Cohort
            population
  JOURNAL   Arch Endocrinol Metab 65 (4), 443-449 (2021)
   PUBMED   34283907
  REMARK    GeneRIF: Polymorphism (-499C/G) in DDAH2 promoter may act as a
            protective factor for metabolic syndrome: A case-control study in
            Azar-Cohort population.
REFERENCE   4  (residues 1 to 285)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 285)
  AUTHORS   Mannino GC, Pezzilli S, Averta C, Fuoco A, Spiga R, Mancuso E, Di
            Fatta C, Perticone F, Prudente S, Trischitta V, Andreozzi F and
            Sesti G.
  TITLE     A functional variant of the dimethylarginine
            dimethylaminohydrolase-2 gene is associated with myocardial
            infarction in type 2 diabetic patients
  JOURNAL   Cardiovasc Diabetol 18 (1), 102 (2019)
   PUBMED   31409409
  REMARK    GeneRIF: DDAH2 rs9267551 polymorphism is significantly associated
            with myocardial infarction in type 2 diabetes mellitus patients of
            European ancestry.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 285)
  AUTHORS   Cillero-Pastor B, Mateos J, Fernandez-Lopez C, Oreiro N,
            Ruiz-Romero C and Blanco FJ.
  TITLE     Dimethylarginine dimethylaminohydrolase 2, a newly identified
            mitochondrial protein modulating nitric oxide synthesis in normal
            human chondrocytes
  JOURNAL   Arthritis Rheum 64 (1), 204-212 (2012)
   PUBMED   21898353
  REMARK    GeneRIF: DDAH-2 could play an important role in IL-1beta-induced NO
            production and in osteoarthritis pathogenesis.
REFERENCE   7  (residues 1 to 285)
  AUTHORS   Birdsey GM, Leiper JM and Vallance P.
  TITLE     Intracellular localization of dimethylarginine
            dimethylaminohydrolase overexpressed in an endothelial cell line
  JOURNAL   Acta Physiol Scand 168 (1), 73-79 (2000)
   PUBMED   10691782
REFERENCE   8  (residues 1 to 285)
  AUTHORS   Leiper JM, Santa Maria J, Chubb A, MacAllister RJ, Charles IG,
            Whitley GS and Vallance P.
  TITLE     Identification of two human dimethylarginine
            dimethylaminohydrolases with distinct tissue distributions and
            homology with microbial arginine deiminases
  JOURNAL   Biochem J 343 Pt 1 (Pt 1), 209-214 (1999)
   PUBMED   10493931
REFERENCE   9  (residues 1 to 285)
  AUTHORS   Ribas G, Neville M, Wixon JL, Cheng J and Campbell RD.
  TITLE     Genes encoding three new members of the leukocyte antigen 6
            superfamily and a novel member of Ig superfamily, together with
            genes encoding the regulatory nuclear chloride ion channel protein
            (hRNCC) and an N omega-N omega-dimethylarginine
            dimethylaminohydrolase homologue, are found in a 30-kb segment of
            the MHC class III region
  JOURNAL   J Immunol 163 (1), 278-287 (1999)
   PUBMED   10384126
REFERENCE   10 (residues 1 to 285)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL662899.5, BF338733.1,
            EB387244.1 and CB242623.1.
            On or before Dec 11, 2014 this sequence version replaced
            XP_005272840.1, XP_005274986.1, XP_005275143.1, XP_005275282.1,
            XP_005275418.1, XP_005249031.1, XP_005275579.1.
            
            Summary: This gene encodes a dimethylarginine
            dimethylaminohydrolase. The encoded enzyme functions in nitric
            oxide generation by regulating the cellular concentrations of
            methylarginines, which in turn inhibit nitric oxide synthase
            activity. The protein may be localized to the mitochondria.
            Alternative splicing resulting in multiple transcript variants.
            [provided by RefSeq, Dec 2014].
            
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1. Variants 1, 2, and 3 encode the same
            protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.299715.1,
                                           DRR138527.153269.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 21898353
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..285
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     Protein         1..285
                     /product="N(G),N(G)-dimethylarginine
                     dimethylaminohydrolase 2"
                     /EC_number="3.5.3.18"
                     /note="dimethylarginine dimethylaminohydrolase II; S-phase
                     protein; dimethylargininase-2; epididymis secretory
                     protein Li 277; testis tissue sperm-binding protein Li
                     54e"
                     /calculated_mol_wt=29513
     Region          <62..277
                     /region_name="DdaH"
                     /note="N-Dimethylarginine dimethylaminohydrolase [Amino
                     acid transport and metabolism]; COG1834"
                     /db_xref="CDD:224747"
     CDS             1..285
                     /gene="DDAH2"
                     /gene_synonym="DDAH; DDAHII; G6a; HEL-S-277; NG30"
                     /coded_by="NM_001303008.2:219..1076"
                     /db_xref="CCDS:CCDS4718.1"
                     /db_xref="GeneID:23564"
                     /db_xref="HGNC:HGNC:2716"
                     /db_xref="MIM:604744"
ORIGIN      
        1 mgtpgeglgr cshalirgvp eslasgegag aglpaldlak aqrehgvlgg klrqrlglql
       61 lelppeeslp lgpllgdtav iqgdtalitr pwsparrpev dgvrkalqdl glriveigde
      121 natldgtdvl ftgreffvgl skwtnhrgae ivadtfrdfa vstvpvsgps hlrglcgmgg
      181 prtvvagssd aaqkavrama vltdhpyasl tlpddaaadc lflrpglpgv ppfllhrggg
      241 dlpnsqealq klsdvtlvpv scselekaga glsslclvls trphs
//
LOCUS       NP_001153514             546 aa            linear   PRI 27-DEC-2022
DEFINITION  IQ domain-containing protein C isoform 1 [Homo sapiens].
ACCESSION   NP_001153514
VERSION     NP_001153514.1
DBSOURCE    REFSEQ: accession NM_001160042.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 546)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK307853.1, AL049795.21 and DB324323.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK307853.1, SRR1803612.35445.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2163623
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..546
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.2"
     Protein         1..546
                     /product="IQ domain-containing protein C isoform 1"
                     /note="IQ domain-containing protein C"
                     /calculated_mol_wt=61835
     CDS             1..546
                     /gene="IQCC"
                     /coded_by="NM_001160042.2:12..1652"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS53293.1"
                     /db_xref="GeneID:55721"
                     /db_xref="HGNC:HGNC:25545"
ORIGIN      
        1 mepellvrkv salqvrgrar gsqdfsfrei mgsrtwtsqr dattfsplta rqpleipavp
       61 nraeeswdpr tpcparphsh htlapdqgng kslkacvrgf lvrrqfqslr aeyeaivrev
      121 egdlgtlqwt egriprprfl pekakshqtw kagdrvanpe qglwnhfpce esegeatwee
      181 mvlkksgess anqgslcrdh sswlqmkqnr kpsqektrdt trmenpeatd qrlphsqpql
      241 qelqyhrshl amellwlqqa insrkeylll kqtlrspeag pireeprvfl ehgeqacerd
      301 qsqpsapled qsyrdrttge leqeddschr vksphrspgs lattqkniag akcrepcysk
      361 sgppssipsn sqalgdrltk gpddgrqtfg gtcllqmkil edqtprglkp rnhcprksrt
      421 qlsalyedsn ikemsprkld hkepdcrtvr tqelglsedh iiwdgtlggp ehsvldlwrt
      481 kppkgqaptd rssrdgtsne pshegqkkqr tipwrskspe ilsstkagct geeqwrgrpw
      541 kteppg
//
LOCUS       NP_001341414             532 aa            linear   PRI 30-DEC-2022
DEFINITION  chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Homo
            sapiens].
ACCESSION   NP_001341414 XP_016869121
VERSION     NP_001341414.1
DBSOURCE    REFSEQ: accession NM_001354485.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 532)
  AUTHORS   Mizumoto S, Janecke AR, Sadeghpour A, Povysil G, McDonald MT, Unger
            S, Greber-Platzer S, Deak KL, Katsanis N, Superti-Furga A, Sugahara
            K, Davis EE, Yamada S and Vodopiutz J.
  TITLE     CSGALNACT1-congenital disorder of glycosylation: A mild skeletal
            dysplasia with advanced bone age
  JOURNAL   Hum Mutat 41 (3), 655-667 (2020)
   PUBMED   31705726
  REMARK    GeneRIF: CSGALNACT1-congenital disorder of glycosylation: A mild
            skeletal dysplasia with advanced bone age.
REFERENCE   2  (residues 1 to 532)
  AUTHORS   Hu B, Xu C, Tian Y, Shi C, Zhang Y, Deng L, Zhou H, Cao P, Chen H
            and Yuan W.
  TITLE     Inflammatory microRNA-194 and -515 attenuate the biosynthesis of
            chondroitin sulfate during human intervertebral disc degeneration
  JOURNAL   Oncotarget 8 (30), 49303-49317 (2017)
   PUBMED   28514734
REFERENCE   3  (residues 1 to 532)
  AUTHORS   Munkley J.
  TITLE     Glycosylation is a global target for androgen control in prostate
            cancer cells
  JOURNAL   Endocr Relat Cancer 24 (3), R49-R64 (2017)
   PUBMED   28159857
  REMARK    Review article
REFERENCE   4  (residues 1 to 532)
  AUTHORS   Vodopiutz J, Mizumoto S, Lausch E, Rossi A, Unger S, Janocha N,
            Costantini R, Seidl R, Greber-Platzer S, Yamada S, Muller T, Jilma
            B, Ganger R, Superti-Furga A, Ikegawa S, Sugahara K and Janecke AR.
  TITLE     Chondroitin Sulfate N-acetylgalactosaminyltransferase-1
            (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and
            Joint Laxity
  JOURNAL   Hum Mutat 38 (1), 34-38 (2017)
   PUBMED   27599773
REFERENCE   5  (residues 1 to 532)
  AUTHORS   Saigoh K, Yoshimura S, Izumikawa T, Miyata S, Tabara Y, Matsushita
            T, Miki T, Miyamoto K, Hirano M, Kitagawa H, Kira J and Kusunoki S.
  TITLE     Chondroitin sulfate beta-1,4-N-acetylgalactosaminyltransferase-1
            (ChGn-1) polymorphism: Association with progression of multiple
            sclerosis
  JOURNAL   Neurosci Res 108, 55-59 (2016)
   PUBMED   26806424
  REMARK    GeneRIF: In men, patients who had multiple sclerosis (MS) with
            S126L had a slower disease progression. This cSNP might be
            associated with the sex differences in clinical course of MS.
REFERENCE   6  (residues 1 to 532)
  AUTHORS   Ritelli M, Chiarelli N, Zoppi N, Dordoni C, Quinzani S, Traversa M,
            Venturini M, Calzavara-Pinton P and Colombi M.
  TITLE     Insights in the etiopathology of galactosyltransferase II (GalT-II)
            deficiency from transcriptome-wide expression profiling of skin
            fibroblasts of two sisters with compound heterozygosity for two
            novel B3GALT6 mutations
  JOURNAL   Mol Genet Metab Rep 2, 1-15 (2014)
   PUBMED   28649518
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 532)
  AUTHORS   Sato T, Gotoh M, Kiyohara K, Akashima T, Iwasaki H, Kameyama A,
            Mochizuki H, Yada T, Inaba N, Togayachi A, Kudo T, Asada M,
            Watanabe H, Imamura T, Kimata K and Narimatsu H.
  TITLE     Differential roles of two N-acetylgalactosaminyltransferases,
            CSGalNAcT-1, and a novel enzyme, CSGalNAcT-2. Initiation and
            elongation in synthesis of chondroitin sulfate
  JOURNAL   J Biol Chem 278 (5), 3063-3071 (2003)
   PUBMED   12446672
  REMARK    GeneRIF: plays a role in the initiation and elongation in the
            synthesis of chondroitin sulfate
REFERENCE   8  (residues 1 to 532)
  AUTHORS   Gotoh M, Sato T, Akashima T, Iwasaki H, Kameyama A, Mochizuki H,
            Yada T, Inaba N, Zhang Y, Kikuchi N, Kwon YD, Togayachi A, Kudo T,
            Nishihara S, Watanabe H, Kimata K and Narimatsu H.
  TITLE     Enzymatic synthesis of chondroitin with a novel chondroitin sulfate
            N-acetylgalactosaminyltransferase that transfers
            N-acetylgalactosamine to glucuronic acid in initiation and
            elongation of chondroitin sulfate synthesis
  JOURNAL   J Biol Chem 277 (41), 38189-38196 (2002)
   PUBMED   12163485
  REMARK    GeneRIF: These results suggest that this enzyme has
            N-acetylgalactosaminyltransferase activity in both the elongation
            and initiation of chondroitin sulfate synthesis.
REFERENCE   9  (residues 1 to 532)
  AUTHORS   Uyama T, Kitagawa H, Tamura Ji J and Sugahara K.
  TITLE     Molecular cloning and expression of human chondroitin
            N-acetylgalactosaminyltransferase: the key enzyme for chain
            initiation and elongation of chondroitin/dermatan sulfate on the
            protein linkage region tetrasaccharide shared by heparin/heparan
            sulfate
  JOURNAL   J Biol Chem 277 (11), 8841-8846 (2002)
   PUBMED   11788602
REFERENCE   10 (residues 1 to 532)
  AUTHORS   Kitagawa H, Uyama T and Sugahara K.
  TITLE     Molecular cloning and expression of a human chondroitin synthase
  JOURNAL   J Biol Chem 276 (42), 38721-38726 (2001)
   PUBMED   11514575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY140335.1, AC116376.4,
            AC090786.6 and BQ016671.1.
            On Aug 29, 2017 this sequence version replaced XP_016869121.1.
            
            Summary: This gene encodes an enzyme that transfers
            N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and
            to elongating chondroitin sulfate chains in proteoglycans. Knockout
            of the orthologous mouse gene indicates that the protein is
            necessary for normal cartilage development and aggrecan metabolism.
            Mutations in this gene are associated with multiple sclerosis
            progression, and with mild skeletal dysplasia and joint laxity.
            [provided by RefSeq, Aug 2017].
            
            Transcript Variant: This variant (11) differs in the 5' UTR
            compared to variant 1. Variants 1, 2 and 4 through 23 all encode
            the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.4058964.1,
                                           SRR14038192.2717606.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..532
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     Protein         1..532
                     /product="chondroitin sulfate
                     N-acetylgalactosaminyltransferase 1"
                     /EC_number="2.4.1.174"
                     /note="chondroitin beta1,4
                     N-acetylgalactosaminyltransferase; beta4GalNAcT-1;
                     chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1;
                     glucuronylgalactosylproteoglycan 4-beta-N-
                     acetylgalactosaminyltransferase"
                     /calculated_mol_wt=61164
     Site            15..35
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TDX6.2)"
     Region          70..507
                     /region_name="Glyco_tranf_GTA_type"
                     /note="Glycosyltransferase family A (GT-A) includes
                     diverse families of glycosyl transferases with a common
                     GT-A type structural fold; cl11394"
                     /db_xref="CDD:448240"
     Site            315
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TDX6.2)"
     Site            324
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TDX6.2)"
     CDS             1..532
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /coded_by="NM_001354485.2:639..2237"
                     /db_xref="CCDS:CCDS6010.1"
                     /db_xref="GeneID:55790"
                     /db_xref="HGNC:HGNC:24290"
                     /db_xref="MIM:616615"
ORIGIN      
        1 mmmvrrglla wisrvvvllv llccaisvly mlactpkgde eqlalprans ptgkegyqav
       61 lqeweeqhrn yvsslkrqia qlkeelqers eqlrngqyqa sdaaglgldr sppektqadl
      121 laflhsqvdk aevnagvkla teyaavpfds ftlqkvyqle tgltrhpeek pvrkdkrdel
      181 veaiesalet lnspaenspn hrpytasdfi egiyrterdk gtlyeltfkg dhkhefkrli
      241 lfrpfgpimk vkneklnman tlinvivpla krvdkfrqfm qnfremcieq dgrvhltvvy
      301 fgkeeinevk gilentskaa nfrnftfiql ngefsrgkgl dvgarfwkgs nvllffcdvd
      361 iyftseflnt crlntqpgkk vfypvlfsqy npgiiyghhd avppleqqlv ikketgfwrd
      421 fgfgmtcqyr sdfiniggfd ldikgwgged vhlyrkylhs nlivvrtpvr glfhlwhekr
      481 cmdeltpeqy kmcmqskamn eashgqlgml vfrheieahl rkqkqktssk kt
//
LOCUS       NP_001254637              76 aa            linear   PRI 31-DEC-2022
DEFINITION  zinc finger protein 706 [Homo sapiens].
ACCESSION   NP_001254637
VERSION     NP_001254637.1
DBSOURCE    REFSEQ: accession NM_001267708.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 76)
  AUTHORS   Dossena S, Gandini R, Tamma G, Vezzoli V, Nofziger C, Tamplenizza
            M, Salvioni E, Bernardinelli E, Meyer G, Valenti G, Wolf-Watz M,
            Furst J and Paulmichl M.
  TITLE     The molecular and functional interaction between ICln and HSPC038
            proteins modulates the regulation of cell volume
  JOURNAL   J Biol Chem 286 (47), 40659-40670 (2011)
   PUBMED   21917931
  REMARK    GeneRIF: functional interaction between ICln and HSPC038
REFERENCE   2  (residues 1 to 76)
  AUTHORS   McClay JL, Adkins DE, Aberg K, Bukszar J, Khachane AN, Keefe RS,
            Perkins DO, McEvoy JP, Stroup TS, Vann RE, Beardsley PM, Lieberman
            JA, Sullivan PF and van den Oord EJ.
  TITLE     Genome-wide pharmacogenomic study of neurocognition as an indicator
            of antipsychotic treatment response in schizophrenia
  JOURNAL   Neuropsychopharmacology 36 (3), 616-626 (2011)
   PUBMED   21107309
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001330.3 and AP003469.3.
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. Variants 1, 3, 4 and 5 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.10443.1,
                                           SRR1803612.129126.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..76
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.3"
     Protein         1..76
                     /product="zinc finger protein 706"
                     /calculated_mol_wt=8367
     Region          1..32
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5V0.1)"
     Region          <41..>65
                     /region_name="zf-C2H2_12"
                     /note="Zinc-finger C2H2-type; pfam18658"
                     /db_xref="CDD:436652"
     Region          53..76
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5V0.1)"
     CDS             1..76
                     /gene="ZNF706"
                     /gene_synonym="HSPC038; PNAS-106; PNAS-113"
                     /coded_by="NM_001267708.2:401..631"
                     /db_xref="CCDS:CCDS6291.1"
                     /db_xref="GeneID:51123"
                     /db_xref="HGNC:HGNC:24992"
                     /db_xref="MIM:619526"
ORIGIN      
        1 margqqkiqs qqknakkqag qkkkqghdqk aaakaaliyt ctvcrtqmpd pktfkqhfes
       61 khpktplppe ladvqa
//
LOCUS       NP_001129174             245 aa            linear   PRI 29-JAN-2023
DEFINITION  14-3-3 protein zeta/delta [Homo sapiens].
ACCESSION   NP_001129174
VERSION     NP_001129174.1
DBSOURCE    REFSEQ: accession NM_001135702.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 245)
  AUTHORS   Wan RP, Liu ZG, Huang XF, Kwan P, Li YP, Qu XC, Ye XG, Chen FY,
            Zhang DW, He MF, Wang J, Mao YL and Qiao JD.
  TITLE     YWHAZ variation causes intellectual disability and global
            developmental delay with brain malformation
  JOURNAL   Hum Mol Genet 32 (3), 462-472 (2023)
   PUBMED   36001342
  REMARK    GeneRIF: YWHAZ variation causes intellectual disability and global
            developmental delay with brain malformation.
REFERENCE   2  (residues 1 to 245)
  AUTHORS   Yan S, Shang Q, Fan Z, Yang Y, Liu Y, Gao H, Chen K, Liang F, Li X,
            Zhang Q and Yan H.
  TITLE     Expression of PD-L1 and YWHAZ in Patients with Diffuse Large B Cell
            Lymphoma: A Possible Association with the Prognosis of Lymphoma
  JOURNAL   J Immunol Res 2022, 5633096 (2022)
   PUBMED   36213322
  REMARK    GeneRIF: Expression of PD-L1 and YWHAZ in Patients with Diffuse
            Large B Cell Lymphoma: A Possible Association with the Prognosis of
            Lymphoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 245)
  AUTHORS   Yin S, Liu W, Ji C, Zhu Y, Shan Y, Zhou Z, Chen W, Zhang L, Sun Z,
            Zhou W and Qian H.
  TITLE     hucMSC-sEVs-Derived 14-3-3zeta Serves as a Bridge between YAP and
            Autophagy in Diabetic Kidney Disease
  JOURNAL   Oxid Med Cell Longev 2022, 3281896 (2022)
   PUBMED   36199425
  REMARK    GeneRIF: hucMSC-sEVs-Derived 14-3-3zeta Serves as a Bridge between
            YAP and Autophagy in Diabetic Kidney Disease.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 245)
  AUTHORS   Zhang Z, Chen C, Yang F, Zeng YX, Sun P, Liu P and Li X.
  TITLE     Itaconate is a lysosomal inducer that promotes antibacterial innate
            immunity
  JOURNAL   Mol Cell 82 (15), 2844-2857 (2022)
   PUBMED   35662396
REFERENCE   5  (residues 1 to 245)
  AUTHORS   Wei L, Hu N, Ye M, Xi Z, Wang Z, Xiong L, Yang N and Shen Y.
  TITLE     Overexpression of 14-3-3zeta primes disease recurrence, metastasis
            and resistance to chemotherapy by inducing epithelial-mesenchymal
            transition in NSCLC
  JOURNAL   Aging (Albany NY) 14 (14), 5838-5854 (2022)
   PUBMED   35876652
  REMARK    GeneRIF: Overexpression of 14-3-3zeta primes disease recurrence,
            metastasis and resistance to chemotherapy by inducing
            epithelial-mesenchymal transition in NSCLC.
REFERENCE   6  (residues 1 to 245)
  AUTHORS   Koyama S, Williams LT and Kikuchi A.
  TITLE     Characterization of the interaction of Raf-1 with ras p21 or 14-3-3
            protein in intact cells
  JOURNAL   FEBS Lett 368 (2), 321-325 (1995)
   PUBMED   7628630
REFERENCE   7  (residues 1 to 245)
  AUTHORS   Liu D, Bienkowska J, Petosa C, Collier RJ, Fu H and Liddington R.
  TITLE     Crystal structure of the zeta isoform of the 14-3-3 protein
  JOURNAL   Nature 376 (6536), 191-194 (1995)
   PUBMED   7603574
REFERENCE   8  (residues 1 to 245)
  AUTHORS   Sato T, Irie S, Kitada S and Reed JC.
  TITLE     FAP-1: a protein tyrosine phosphatase that associates with Fas
  JOURNAL   Science 268 (5209), 411-415 (1995)
   PUBMED   7536343
REFERENCE   9  (residues 1 to 245)
  AUTHORS   Kawamoto S, Shoji M, Setoguchi Y, Kato M, Hashizume S, Ichikawa A,
            Osada K, Katakura Y, Tachibana H and Murakami H.
  TITLE     Molecular cloning of the 31 kDa cytosolic phospholipase A2, as an
            antigen recognized by the lung cancer-specific human monoclonal
            antibody, AE6F4
  JOURNAL   Cytotechnology 17 (2), 103-108 (1995)
   PUBMED   7547034
REFERENCE   10 (residues 1 to 245)
  AUTHORS   Zupan LA, Steffens DL, Berry CA, Landt M and Gross RW.
  TITLE     Cloning and expression of a human 14-3-3 protein mediating
            phospholipolysis. Identification of an arachidonoyl-enzyme
            intermediate during catalysis
  JOURNAL   J Biol Chem 267 (13), 8707-8710 (1992)
   PUBMED   1577711
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB472116.1, BQ605329.1,
            BC072426.1, BM783874.1 and AC027373.11.
            
            Summary: This gene product belongs to the 14-3-3 family of proteins
            which mediate signal transduction by binding to
            phosphoserine-containing proteins. This highly conserved protein
            family is found in both plants and mammals, and this protein is 99%
            identical to the mouse, rat and sheep orthologs. The encoded
            protein interacts with IRS1 protein, suggesting a role in
            regulating insulin sensitivity. Several transcript variants that
            differ in the 5' UTR but that encode the same protein have been
            identified for this gene. [provided by RefSeq, Oct 2008].
            
            Transcript Variant: This variant (6) differs in the 5' UTR compared
            to variant 2. All six transcripts encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.253212.1,
                                           SRR1660805.34969.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2155770
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..245
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.3"
     Protein         1..245
                     /product="14-3-3 protein zeta/delta"
                     /note="14-3-3 delta; tyrosine 3-monooxygenase/tryptophan
                     5-monooxygenase activation protein, delta polypeptide;
                     14-3-3 zeta; phospholipase A2; protein kinase C inhibitor
                     protein-1; tyrosine 3/tryptophan 5 -monooxygenase
                     activation protein, zeta polypeptide; 14-3-3
                     protein/cytosolic phospholipase A2; epididymis secretory
                     protein Li 93; tyrosine 3-monooxygenase/tryptophan
                     5-monooxygenase activation protein, zeta polypeptide;
                     epididymis secretory protein Li 3; epididymis luminal
                     protein 4"
                     /calculated_mol_wt=27614
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.8,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P63104.1)"
     Region          2..230
                     /region_name="14-3-3_beta_zeta"
                     /note="14-3-3 beta and zeta isoforms of 14-3-3 protein;
                     cd10022"
                     /db_xref="CDD:206758"
     Site            3
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P63104.1)"
     Site            order(5,8..9,12..13,15..16,18,21,58,61,65,75,78..79,82,
                     85..86,89)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:206758"
     Site            order(41..42,45..46,49,117,120,127..128,165,169,172..173,
                     176,209..213,216..217,220,224)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:206758"
     Site            56
                     /site_type="other"
                     /note="Interaction with phosphoserine on interacting
                     protein. /evidence=ECO:0000250|UniProtKB:P63103;
                     propagated from UniProtKB/Swiss-Prot (P63104.1)"
     Site            58
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKA and PKB/AKT1.
                     /evidence=ECO:0000269|PubMed:11956222,
                     ECO:0000269|PubMed:12865427, ECO:0000269|PubMed:15883165,
                     ECO:0000269|PubMed:16376338; propagated from
                     UniProtKB/Swiss-Prot (P63104.1)"
     Site            68
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P63104.1)"
     Site            127
                     /site_type="other"
                     /note="Interaction with phosphoserine on interacting
                     protein. /evidence=ECO:0000250|UniProtKB:P63103;
                     propagated from UniProtKB/Swiss-Prot (P63104.1)"
     Site            184
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK8.
                     /evidence=ECO:0000269|PubMed:15071501,
                     ECO:0000269|PubMed:15696159; propagated from
                     UniProtKB/Swiss-Prot (P63104.1)"
     Site            207
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P63104.1)"
     Site            210
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P63102; propagated from
                     UniProtKB/Swiss-Prot (P63104.1)"
     Site            232
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CK1.
                     /evidence=ECO:0000269|PubMed:31024343,
                     ECO:0000269|PubMed:9360956, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (P63104.1)"
     CDS             1..245
                     /gene="YWHAZ"
                     /gene_synonym="14-3-3-zeta; HEL-S-3; HEL-S-93; HEL4;
                     KCIP-1; POPCHAS; YWHAD"
                     /coded_by="NM_001135702.2:178..915"
                     /db_xref="CCDS:CCDS6290.1"
                     /db_xref="GeneID:7534"
                     /db_xref="HGNC:HGNC:12855"
                     /db_xref="MIM:601288"
ORIGIN      
        1 mdknelvqka klaeqaeryd dmaacmksvt eqgaelsnee rnllsvaykn vvgarrsswr
       61 vvssieqkte gaekkqqmar eyrekietel rdicndvlsl lekflipnas qaeskvfylk
      121 mkgdyyryla evaagddkkg ivdqsqqayq eafeiskkem qpthpirlgl alnfsvfyye
      181 ilnspekacs laktafdeai aeldtlsees ykdstlimql lrdnltlwts dtqgdeaeag
      241 eggen
//
LOCUS       NP_001139256             119 aa            linear   PRI 07-FEB-2023
DEFINITION  BLOC-1-related complex subunit 8 isoform 1 [Homo sapiens].
ACCESSION   NP_001139256
VERSION     NP_001139256.1
DBSOURCE    REFSEQ: accession NM_001145784.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 119)
  AUTHORS   Tunganuntarat J, Kanjanasirirat P, Khumpanied T, Benjaskulluecha S,
            Wongprom B, Palaga T, Siregar TAP, Borwornpinyo S, Chaiprasert A,
            Palittapongarnpim P and Ponpuak M.
  TITLE     BORC complex specific components and Kinesin-1 mediate autophagy
            evasion by the autophagy-resistant Mycobacterium tuberculosis
            Beijing strain
  JOURNAL   Sci Rep 13 (1), 1663 (2023)
   PUBMED   36717601
  REMARK    GeneRIF: BORC complex specific components and Kinesin-1 mediate
            autophagy evasion by the autophagy-resistant Mycobacterium
            tuberculosis Beijing strain.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 119)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 119)
  AUTHORS   Yordanov TE, Hipolito VEB, Liebscher G, Vogel GF, Stasyk T,
            Herrmann C, Geley S, Teis D, Botelho RJ, Hess MW and Huber LA.
  TITLE     Biogenesis of lysosome-related organelles complex-1 (BORC)
            regulates late endosomal/lysosomal size through PIKfyve-dependent
            phosphatidylinositol-3,5-bisphosphate
  JOURNAL   Traffic 20 (9), 674-696 (2019)
   PUBMED   31314175
REFERENCE   4  (residues 1 to 119)
  AUTHORS   Yachie N, Petsalaki E, Mellor JC, Weile J, Jacob Y, Verby M, Ozturk
            SB, Li S, Cote AG, Mosca R, Knapp JJ, Ko M, Yu A, Gebbia M, Sahni
            N, Yi S, Tyagi T, Sheykhkarimli D, Roth JF, Wong C, Musa L, Snider
            J, Liu YC, Yu H, Braun P, Stagljar I, Hao T, Calderwood MA,
            Pelletier L, Aloy P, Hill DE, Vidal M and Roth FP.
  TITLE     Pooled-matrix protein interaction screens using Barcode Fusion
            Genetics
  JOURNAL   Mol Syst Biol 12 (4), 863 (2016)
   PUBMED   27107012
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 119)
  AUTHORS   Pu J, Schindler C, Jia R, Jarnik M, Backlund P and Bonifacino JS.
  TITLE     BORC, a multisubunit complex that regulates lysosome positioning
  JOURNAL   Dev Cell 33 (2), 176-188 (2015)
   PUBMED   25898167
REFERENCE   6  (residues 1 to 119)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (residues 1 to 119)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 119)
  AUTHORS   Iida K, Hidaka K, Takeuchi M, Nakayama M, Yutani C, Mukai T and
            Morisaki T.
  TITLE     Expression of MEF2 genes during human cardiac development
  JOURNAL   Tohoku J Exp Med 187 (1), 15-23 (1999)
   PUBMED   10458488
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA440390.1, BC004449.1, BC010931.1 and CA421006.1.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC010931.1, DA261831.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000462790.8/ ENSP00000425864.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..119
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     Protein         1..119
                     /product="BLOC-1-related complex subunit 8 isoform 1"
                     /note="protein MEF2BNB; MEF2B neighbor gene protein"
                     /calculated_mol_wt=13272
     Region          8..104
                     /region_name="BORCS8"
                     /note="BLOC-1-related complex sub-unit 8; pfam10167"
                     /db_xref="CDD:431105"
     Site            109
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96FH0.1)"
     CDS             1..119
                     /gene="BORCS8"
                     /gene_synonym="MEF2BNB"
                     /coded_by="NM_001145784.2:36..395"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS46025.1"
                     /db_xref="GeneID:729991"
                     /db_xref="HGNC:HGNC:37247"
                     /db_xref="MIM:616601"
ORIGIN      
        1 meepemqlkg kkvtdkftes vyvlanepsv alyrlqehvr rslpelaqhk admqrweeqs
       61 qgaiytveya csavknlvds svyfrsvegl lkqaisirdh mnasaqghsp eeppppssa
//
LOCUS       NP_006561                313 aa            linear   PRI 12-MAR-2023
DEFINITION  ras-related GTP-binding protein A [Homo sapiens].
ACCESSION   NP_006561
VERSION     NP_006561.1
DBSOURCE    REFSEQ: accession NM_006570.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 313)
  AUTHORS   Zhang L, Yu J, Zheng M, Zhen H, Xie Q, Zhang C, Zhou Z and Jin G.
  TITLE     RAGA prevents tumor immune evasion of LUAD by promoting CD47
            lysosome degradation
  JOURNAL   Commun Biol 6 (1), 211 (2023)
   PUBMED   36823443
  REMARK    GeneRIF: RAGA prevents tumor immune evasion of LUAD by promoting
            CD47 lysosome degradation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 313)
  AUTHORS   Cui Z, Napolitano G, de Araujo MEG, Esposito A, Monfregola J, Huber
            LA, Ballabio A and Hurley JH.
  TITLE     Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator megacomplex
  JOURNAL   Nature 614 (7948), 572-579 (2023)
   PUBMED   36697823
  REMARK    GeneRIF: Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator
            megacomplex.
REFERENCE   3  (residues 1 to 313)
  AUTHORS   Egri SB and Shen K.
  TITLE     An interdomain hydrogen bond in the Rag GTPases maintains stable
            mTORC1 signaling in sensing amino acids
  JOURNAL   J Biol Chem 297 (1), 100861 (2021)
   PUBMED   34116056
  REMARK    GeneRIF: An interdomain hydrogen bond in the Rag GTPases maintains
            stable mTORC1 signaling in sensing amino acids.
REFERENCE   4  (residues 1 to 313)
  AUTHORS   Kim SH, Choi JH, Wang P, Go CD, Hesketh GG, Gingras AC, Jafarnejad
            SM and Sonenberg N.
  TITLE     Mitochondrial Threonyl-tRNA Synthetase TARS2 Is Required for
            Threonine-Sensitive mTORC1 Activation
  JOURNAL   Mol Cell 81 (2), 398-407 (2021)
   PUBMED   33340489
  REMARK    GeneRIF: Mitochondrial Threonyl-tRNA Synthetase TARS2 Is Required
            for Threonine-Sensitive mTORC1 Activation.
REFERENCE   5  (residues 1 to 313)
  AUTHORS   Yang S, Zhang Y, Ting CY, Bettedi L, Kim K, Ghaniam E and Lilly MA.
  TITLE     The Rag GTPase Regulates the Dynamic Behavior of TSC Downstream of
            Both Amino Acid and Growth Factor Restriction
  JOURNAL   Dev Cell 55 (3), 272-288 (2020)
   PUBMED   32898476
  REMARK    GeneRIF: The Rag GTPase Regulates the Dynamic Behavior of TSC
            Downstream of Both Amino Acid and Growth Factor Restriction.
REFERENCE   6  (residues 1 to 313)
  AUTHORS   Sekiguchi T, Todaka Y, Wang Y, Hirose E, Nakashima N and Nishimoto
            T.
  TITLE     A novel human nucleolar protein, Nop132, binds to the G proteins,
            RRAG A/C/D
  JOURNAL   J Biol Chem 279 (9), 8343-8350 (2004)
   PUBMED   14660641
REFERENCE   7  (residues 1 to 313)
  AUTHORS   Sekiguchi T, Hirose E, Nakashima N, Ii M and Nishimoto T.
  TITLE     Novel G proteins, Rag C and Rag D, interact with GTP-binding
            proteins, Rag A and Rag B
  JOURNAL   J Biol Chem 276 (10), 7246-7257 (2001)
   PUBMED   11073942
REFERENCE   8  (residues 1 to 313)
  AUTHORS   Hirose E, Nakashima N, Sekiguchi T and Nishimoto T.
  TITLE     RagA is a functional homologue of S. cerevisiae Gtr1p involved in
            the Ran/Gsp1-GTPase pathway
  JOURNAL   J Cell Sci 111 (Pt 1), 11-21 (1998)
   PUBMED   9394008
REFERENCE   9  (residues 1 to 313)
  AUTHORS   Li Y, Kang J and Horwitz MS.
  TITLE     Interaction of an adenovirus 14.7-kilodalton protein inhibitor of
            tumor necrosis factor alpha cytolysis with a new member of the
            GTPase superfamily of signal transducers
  JOURNAL   J Virol 71 (2), 1576-1582 (1997)
   PUBMED   8995684
REFERENCE   10 (residues 1 to 313)
  AUTHORS   Schurmann A, Brauers A, Massmann S, Becker W and Joost HG.
  TITLE     Cloning of a novel family of mammalian GTP-binding proteins (RagA,
            RagBs, RagB1) with remote similarity to the Ras-related GTPases
  JOURNAL   J Biol Chem 270 (48), 28982-28988 (1995)
   PUBMED   7499430
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC009990.2 and BX346838.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: SRR3476690.413698.1,
                                        SRR1660803.162941.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380527.3/ ENSP00000369899.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p22.1"
     Protein         1..313
                     /product="ras-related GTP-binding protein A"
                     /note="adenovirus E3-14.7K interacting protein 1; rag A;
                     adenovirus E3 14.7 kDa-interacting protein 1"
                     /calculated_mol_wt=36435
     Region          9..292
                     /region_name="RagA_like"
                     /note="Rag GTPase, subfamily of Ras-related GTPases,
                     includes Ras-related GTP-binding proteins A and B;
                     cd11384"
                     /db_xref="CDD:206744"
     Site            14..21
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206744"
     Site            order(19..22,65,127..128,130,163..165)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206744"
     Site            42
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206744"
     Site            46..48
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206744"
     Site            62..65
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206744"
     Site            order(64..65,86..87)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206744"
     Site            127..130
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206744"
     Site            163..165
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206744"
     Site            order(202,204,227,230..231,234..235,238,241..242,244,
                     247..254,261,273)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:206744"
     Site            309
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7L523.1)"
     CDS             1..313
                     /gene="RRAGA"
                     /gene_synonym="FIP-1; FIP1; RAGA"
                     /coded_by="NM_006570.5:234..1175"
                     /db_xref="CCDS:CCDS6488.1"
                     /db_xref="GeneID:10670"
                     /db_xref="HGNC:HGNC:16963"
                     /db_xref="MIM:612194"
ORIGIN      
        1 mpntamkkkv llmgksgsgk tsmrsiifan yiardtrrlg atidvehshv rflgnlvlnl
       61 wdcggqdtfm enyftsqrdn ifrnvevliy vfdvesrele kdmhyyqscl eailqnspda
      121 kifclvhkmd lvqedqrdli fkereedlrr lsrplecacf rtsiwdetly kawssivyql
      181 ipnvqqlemn lrnfaqiiea devllferat flvishyqck eqrdvhrfek isniikqfkl
      241 scsklaasfq smevrnsnfa afidiftsnt yvmvvmsdps ipsaatlini rnarkhfekl
      301 ervdgpkhsl lmr
//
LOCUS       NP_689479                215 aa            linear   PRI 14-MAR-2023
DEFINITION  Fanconi anemia core complex-associated protein 24 isoform 1 [Homo
            sapiens].
ACCESSION   NP_689479
VERSION     NP_689479.1
DBSOURCE    REFSEQ: accession NM_152266.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 215)
  AUTHORS   Daschkey S, Bienemann K, Schuster V, Kreth HW, Linka RM, Honscheid
            A, Fritz G, Johannes C, Fleckenstein B, Kempkes B, Gombert M,
            Ginzel S and Borkhardt A.
  TITLE     Fatal Lymphoproliferative Disease in Two Siblings Lacking
            Functional FAAP24
  JOURNAL   J Clin Immunol 36 (7), 684-692 (2016)
   PUBMED   27473539
  REMARK    GeneRIF: This is the first report of an FAAP24 loss of function
            mutation found in human patients with EBV-associated
            lymphoproliferation.
REFERENCE   2  (residues 1 to 215)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   3  (residues 1 to 215)
  AUTHORS   Yang H, Zhang T, Tao Y, Wang F, Tong L and Ding J.
  TITLE     Structural insights into the functions of the FANCM-FAAP24 complex
            in DNA repair
  JOURNAL   Nucleic Acids Res 41 (22), 10573-10583 (2013)
   PUBMED   24003026
  REMARK    GeneRIF: Results show that the first HhH motif of FAAP24 is a
            potential binding site for DNA, which plays a critical role in
            targeting FANCM-FAAP24 to chromatin.
REFERENCE   4  (residues 1 to 215)
  AUTHORS   Wang Y, Han X, Wu F, Leung JW, Lowery MG, Do H, Chen J, Shi C, Tian
            C, Li L and Gong W.
  TITLE     Structure analysis of FAAP24 reveals single-stranded DNA-binding
            activity and domain functions in DNA damage response
  JOURNAL   Cell Res 23 (10), 1215-1228 (2013)
   PUBMED   23999858
  REMARK    GeneRIF: These results demonstrate dual roles of FAAP24 in DNA
            damage response against crosslinking lesions, one through the
            formation of FANCM/FAAP24 heterodimer and the other via its
            ssDNA-binding activity required in optimized checkpoint activation.
REFERENCE   5  (residues 1 to 215)
  AUTHORS   Coulthard R, Deans AJ, Swuec P, Bowles M, Costa A, West SC and
            McDonald NQ.
  TITLE     Architecture and DNA recognition elements of the Fanconi anemia
            FANCM-FAAP24 complex
  JOURNAL   Structure 21 (9), 1648-1658 (2013)
   PUBMED   23932590
  REMARK    GeneRIF: Crystal structure of the FANCM-FAAP24 complex.
REFERENCE   6  (residues 1 to 215)
  AUTHORS   Yan Z, Delannoy M, Ling C, Daee D, Osman F, Muniandy PA, Shen X,
            Oostra AB, Du H, Steltenpool J, Lin T, Schuster B, Decaillet C,
            Stasiak A, Stasiak AZ, Stone S, Hoatlin ME, Schindler D, Woodcock
            CL, Joenje H, Sen R, de Winter JP, Li L, Seidman MM, Whitby MC,
            Myung K, Constantinou A and Wang W.
  TITLE     A histone-fold complex and FANCM form a conserved DNA-remodeling
            complex to maintain genome stability
  JOURNAL   Mol Cell 37 (6), 865-878 (2010)
   PUBMED   20347428
REFERENCE   7  (residues 1 to 215)
  AUTHORS   Collis SJ, Ciccia A, Deans AJ, Horejsi Z, Martin JS, Maslen SL,
            Skehel JM, Elledge SJ, West SC and Boulton SJ.
  TITLE     FANCM and FAAP24 function in ATR-mediated checkpoint signaling
            independently of the Fanconi anemia core complex
  JOURNAL   Mol Cell 32 (3), 313-324 (2008)
   PUBMED   18995830
  REMARK    GeneRIF: DNA damage recognition and remodeling activities of FANCM
            and FAAP24 cooperate to promote efficient activation of DNA damage
            checkpoints in Fanconi anemia.
REFERENCE   8  (residues 1 to 215)
  AUTHORS   Kim JM, Kee Y, Gurtan A and D'Andrea AD.
  TITLE     Cell cycle-dependent chromatin loading of the Fanconi anemia core
            complex by FANCM/FAAP24
  JOURNAL   Blood 111 (10), 5215-5222 (2008)
   PUBMED   18174376
  REMARK    GeneRIF: FANCM is an anchor required for recruitment of the FA core
            complex to chromatin, and the FANCM/FAAP24 interaction is essential
            for this chromatin-loading activity
REFERENCE   9  (residues 1 to 215)
  AUTHORS   Gari K, Decaillet C, Stasiak AZ, Stasiak A and Constantinou A.
  TITLE     The Fanconi anemia protein FANCM can promote branch migration of
            Holliday junctions and replication forks
  JOURNAL   Mol Cell 29 (1), 141-148 (2008)
   PUBMED   18206976
  REMARK    GeneRIF: FAAP24 is dispensable for DNA binding and branch migration
            activity of FANCM.
REFERENCE   10 (residues 1 to 215)
  AUTHORS   Ciccia A, Ling C, Coulthard R, Yan Z, Xue Y, Meetei AR, Laghmani el
            H, Joenje H, McDonald N, de Winter JP, Wang W and West SC.
  TITLE     Identification of FAAP24, a Fanconi anemia core complex protein
            that interacts with FANCM
  JOURNAL   Mol Cell 25 (3), 331-343 (2007)
   PUBMED   17289582
  REMARK    GeneRIF: FAAP24 targets FANCM to structures that mimic
            intermediates formed during the replication/repair of damaged DNA.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CD690094.1, AK128668.1, CN368337.1, BX390218.2, BC020247.1,
            BM679170.1 and AC011449.6.
            
            Summary: FAAP24 is a component of the Fanconi anemia (FA) core
            complex (see MIM 227650), which plays a crucial role in DNA damage
            response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM,
            Mar 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK128668.1, SRR5189667.156605.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000588258.6/ ENSP00000466121.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..215
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     Protein         1..215
                     /product="Fanconi anemia core complex-associated protein
                     24 isoform 1"
                     /note="Fanconi anemia-associated protein of 24 kDa;
                     Fanconi anemia core complex associated protein 24"
                     /calculated_mol_wt=23766
     Region          17..138
                     /region_name="XPF_nuclease_FAAP24"
                     /note="XPF-like nuclease domain of Fanconi anemia
                     associated protein 24 kDa (FAAP24); cd20076"
                     /db_xref="CDD:410852"
     Site            order(101..102,105..106,109..110,115..118,124,128,
                     131..132,134..135)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:410852"
     Region          160..215
                     /region_name="RuvA domain 2-like"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BTP7.2)"
     Region          166..215
                     /region_name="HHH_2"
                     /note="Helix-hairpin-helix motif; pfam12826"
                     /db_xref="CDD:432812"
     CDS             1..215
                     /gene="FAAP24"
                     /gene_synonym="C19orf40"
                     /coded_by="NM_152266.5:119..766"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS12426.1"
                     /db_xref="GeneID:91442"
                     /db_xref="HGNC:HGNC:28467"
                     /db_xref="MIM:610884"
ORIGIN      
        1 meknppddtg pvhvplghiv anekwrgsql aqemqgkikl ifedgltpdf ylsnrccily
       61 vteadlvagn gyrkrlvrvr nsnnlkgivv vektrmseqy fpalqkftvl dlgmvllpva
      121 sqmeasclvi qlvqeqtkep sknpllgkkr alllsepsll rtvqqipgvg kvkaplllqk
      181 fpsiqqlsna sigeleqvvg qavaqqihaf ftqpr
//
LOCUS       NP_001035933             304 aa            linear   PRI 15-MAR-2023
DEFINITION  inactive C-alpha-formylglycine-generating enzyme 2 isoform a
            precursor [Homo sapiens].
ACCESSION   NP_001035933
VERSION     NP_001035933.3
DBSOURCE    REFSEQ: accession NM_001042468.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 304)
  AUTHORS   Su JQ, Lai PY, Hu PH, Hu JM, Chang PK, Chen CY, Wu JJ, Lin YJ, Sun
            CA, Yang T, Hsu CH, Lin HC and Chou YC.
  TITLE     Differential DNA methylation analysis of SUMF2, ADAMTS5, and PXDN
            provides novel insights into colorectal cancer prognosis prediction
            in Taiwan
  JOURNAL   World J Gastroenterol 28 (8), 825-839 (2022)
   PUBMED   35317099
  REMARK    GeneRIF: Differential DNA methylation analysis of SUMF2, ADAMTS5,
            and PXDN provides novel insights into colorectal cancer prognosis
            prediction in Taiwan.
REFERENCE   2  (residues 1 to 304)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 304)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   4  (residues 1 to 304)
  AUTHORS   Deng X, Sabino EC, Cunha-Neto E, Ribeiro AL, Ianni B, Mady C, Busch
            MP and Seielstad M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 304)
  AUTHORS   Liang H, Li Z, Xue L, Jiang X and Liu F.
  TITLE     SUMF2 interacts with interleukin-13 and inhibits interleukin-13
            secretion in bronchial smooth muscle cells
  JOURNAL   J Cell Biochem 108 (5), 1076-1083 (2009)
   PUBMED   19739097
  REMARK    GeneRIF: SUMF2 interacted with IL-13 and inhibited IL-13 secretion
            in bronchial smooth muscle cells and lymphocytes, which was
            independent of IL-13 glycosylation
REFERENCE   6  (residues 1 to 304)
  AUTHORS   Mariappan M, Preusser-Kunze A, Balleininger M, Eiselt N, Schmidt B,
            Gande SL, Wenzel D, Dierks T and von Figura K.
  TITLE     Expression, localization, structural, and functional
            characterization of pFGE, the paralog of the
            Calpha-formylglycine-generating enzyme
  JOURNAL   J Biol Chem 280 (15), 15173-15179 (2005)
   PUBMED   15708861
  REMARK    GeneRIF: pFGE (SUMF2) is the paralog of the
            Calpha-formylglycine-generating enzyme
REFERENCE   7  (residues 1 to 304)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   8  (residues 1 to 304)
  AUTHORS   Landgrebe J, Dierks T, Schmidt B and von Figura K.
  TITLE     The human SUMF1 gene, required for posttranslational sulfatase
            modification, defines a new gene family which is conserved from
            pro- to eukaryotes
  JOURNAL   Gene 316, 47-56 (2003)
   PUBMED   14563551
REFERENCE   9  (residues 1 to 304)
  AUTHORS   Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G and
            Ballabio A.
  TITLE     The multiple sulfatase deficiency gene encodes an essential and
            limiting factor for the activity of sulfatases
  JOURNAL   Cell 113 (4), 445-456 (2003)
   PUBMED   12757706
REFERENCE   10 (residues 1 to 304)
  AUTHORS   Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M
            and von Figura K.
  TITLE     Multiple sulfatase deficiency is caused by mutations in the gene
            encoding the human C(alpha)-formylglycine generating enzyme
  JOURNAL   Cell 113 (4), 435-444 (2003)
   PUBMED   12757705
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP296294.1, KU178583.1,
            DA130450.1, BP256067.1, CR936757.1 and BC084539.1.
            On Oct 13, 2018 this sequence version replaced NP_001035933.2.
            
            Summary: The catalytic sites of sulfatases are only active if they
            contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly
            residue is posttranslationally generated from a cysteine by enzymes
            with FGly-generating activity. The gene described in this record is
            a member of the sulfatase-modifying factor family and encodes a
            protein with a DUF323 domain that localizes to the lumen of the
            endoplasmic reticulum. This protein has low levels of
            FGly-generating activity but can heterodimerize with another family
            member - a protein with high levels of FGly-generating activity.
            Alternate transcriptional splice variants, encoding different
            isoforms, have been characterized. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1019296.1,
                                           SRR3476690.173966.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..304
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p11.2"
     Protein         1..304
                     /product="inactive C-alpha-formylglycine-generating enzyme
                     2 isoform a precursor"
                     /note="C-alpha-formyglycine-generating enzyme 2; paralog
                     of the formylglycine-generating enzyme;
                     C-alpha-formylglycine-generating enzyme 2; paralog of
                     formylglycine-generating enzyme; inactive
                     C-alpha-formylglycine-generating enzyme 2; epididymis
                     secretory sperm binding protein"
                     /calculated_mol_wt=31654
     sig_peptide     1..25
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2640
     Region          26..295
                     /region_name="FGE-sulfatase"
                     /note="Sulfatase-modifying factor enzyme 1; pfam03781"
                     /db_xref="CDD:397722"
     Site            194
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15687489; propagated from
                     UniProtKB/Swiss-Prot (Q8NBJ7.2)"
     Region          277..304
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBJ7.2)"
     Region          301..304
                     /region_name="Non-canonical ER retention motif.
                     /evidence=ECO:0000269|PubMed:18266766"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBJ7.2)"
     CDS             1..304
                     /gene="SUMF2"
                     /gene_synonym="pFGE"
                     /coded_by="NM_001042468.3:27..941"
                     /note="isoform a precursor is encoded by transcript
                     variant 1"
                     /db_xref="GeneID:25870"
                     /db_xref="HGNC:HGNC:20415"
                     /db_xref="MIM:607940"
ORIGIN      
        1 marhglpllp llsllvgawl klgngqatsm vqlqggrflm gtnspdsrdg dgpvreatvk
       61 pfaidifpvt nkdfryirdf vrekkyrtea emfgwsfvfe dfvsdelrnk atqpmksvlw
      121 wlpvekafwr qpagpgsgir erlehpvlhv swndarayca wrgkrlptee ewefaarggl
      181 kgqvypwgnw fqpnrtnlwq gkfpkgdkae dgfhgvspvn afpaqnnygl ydllgnvwew
      241 taspyqaaeq dmrvlrgasw idtadgsanh rarvttrmgn tpdsasdnlg frcaadagrp
      301 pgel
//
LOCUS       NP_001371967             856 aa            linear   PRI 19-MAR-2023
DEFINITION  villin-like protein isoform 1 [Homo sapiens].
ACCESSION   NP_001371967
VERSION     NP_001371967.1
DBSOURCE    REFSEQ: accession NM_001385038.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 856)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   2  (residues 1 to 856)
  AUTHORS   Piana S, Laio A, Marinelli F, Van Troys M, Bourry D, Ampe C and
            Martins JC.
  TITLE     Predicting the effect of a point mutation on a protein fold: the
            villin and advillin headpieces and their Pro62Ala mutants
  JOURNAL   J Mol Biol 375 (2), 460-470 (2008)
   PUBMED   18022635
  REMARK    GeneRIF: Predicting the effect of a point mutation on a protein
            fold: the villin and advillin headpieces and their Pro62Ala
            mutants.
REFERENCE   3  (residues 1 to 856)
  AUTHORS   Yamamichi N, Inada K, Ichinose M, Yamamichi-Nishina M, Mizutani T,
            Watanabe H, Shiogama K, Fujishiro M, Okazaki T, Yahagi N, Haraguchi
            T, Fujita S, Tsutsumi Y, Omata M and Iba H.
  TITLE     Frequent loss of Brm expression in gastric cancer correlates with
            histologic features and differentiation state
  JOURNAL   Cancer Res 67 (22), 10727-10735 (2007)
   PUBMED   18006815
  REMARK    GeneRIF: Brm is required for villin expression, a definitive marker
            of intestinal metaplasia and differentiation
REFERENCE   4  (residues 1 to 856)
  AUTHORS   Tomar A, George S, Kansal P, Wang Y and Khurana S.
  TITLE     Interaction of phospholipase C-gamma1 with villin regulates
            epithelial cell migration
  JOURNAL   J Biol Chem 281 (42), 31972-31986 (2006)
   PUBMED   16921170
  REMARK    GeneRIF: phospholipase C-gamma1 interaction with villin regulates
            epithelial cell migration
REFERENCE   5  (residues 1 to 856)
  AUTHORS   Ishikawa S, Kai M, Tamari M, Takei Y, Takeuchi K, Bandou H, Yamane
            Y, Ogawa M and Nakamura Y.
  TITLE     Sequence analysis of a 685-kb genomic region on chromosome
            3p22-p21.3 that is homozygously deleted in a lung carcinoma cell
            line
  JOURNAL   DNA Res 4 (1), 35-43 (1997)
   PUBMED   9179494
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC105752.2 and AC144536.4.
            
            Summary: The protein encoded by this gene belongs to the
            villin/gelsolin family. It contains 6 gelsolin-like repeats and a
            headpiece domain. It may play a role in actin-bundling. [provided
            by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.20602.1,
                                           SRR11853564.18960.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..856
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     Protein         1..856
                     /product="villin-like protein isoform 1"
                     /note="villin-like protein"
                     /calculated_mol_wt=95777
     Region          6..119
                     /region_name="gelsolin_S1_like"
                     /note="Gelsolin sub-domain 1-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11290"
                     /db_xref="CDD:200446"
     Site            order(22..23,64,70..71,73..75,77..79,81..82,93,95)
                     /site_type="other"
                     /note="putative actin binding interface [polypeptide
                     binding]"
                     /db_xref="CDD:200446"
     Region          22..74
                     /region_name="Gelsolin-like 1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15195.3)"
     Region          135..228
                     /region_name="gelsolin_S2_like"
                     /note="Gelsolin sub-domain 2-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11289"
                     /db_xref="CDD:200445"
     Region          146..186
                     /region_name="Gelsolin-like 2"
                     /note="propagated from UniProtKB/Swiss-Prot (O15195.3)"
     Region          248..346
                     /region_name="gelsolin_S3_like"
                     /note="Gelsolin sub-domain 3-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11292"
                     /db_xref="CDD:200448"
     Region          263..307
                     /region_name="Gelsolin-like 3"
                     /note="propagated from UniProtKB/Swiss-Prot (O15195.3)"
     Site            order(341,346)
                     /site_type="other"
                     /note="putative nucleotide binding site [chemical
                     binding]"
                     /db_xref="CDD:200448"
     Region          385..485
                     /region_name="gelsolin_S4_like"
                     /note="Gelsolin sub-domain 4-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11293"
                     /db_xref="CDD:200449"
     Site            order(401..402,440,446..447,449..451,453..455,457..458,
                     469,471)
                     /site_type="other"
                     /note="putative actin binding interface [polypeptide
                     binding]"
                     /db_xref="CDD:200449"
     Region          401..450
                     /region_name="Gelsolin-like 4"
                     /note="propagated from UniProtKB/Swiss-Prot (O15195.3)"
     Site            476
                     /site_type="other"
                     /note="putative nucleotide binding residue [chemical
                     binding]"
                     /db_xref="CDD:200449"
     Region          506..596
                     /region_name="gelsolin_S5_like"
                     /note="Gelsolin sub-domain 5-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11288"
                     /db_xref="CDD:200444"
     Site            514
                     /site_type="other"
                     /note="putative nucleotide binding residue [chemical
                     binding]"
                     /db_xref="CDD:200444"
     Region          521..561
                     /region_name="Gelsolin-like 5"
                     /note="propagated from UniProtKB/Swiss-Prot (O15195.3)"
     Region          611..706
                     /region_name="gelsolin_S6_like"
                     /note="Gelsolin sub-domain 6-like domain found in
                     gelsolin, severin, villin, and related proteins; cd11291"
                     /db_xref="CDD:200447"
     Region          624..665
                     /region_name="Gelsolin-like 6"
                     /note="propagated from UniProtKB/Swiss-Prot (O15195.3)"
     Region          762..796
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15195.3)"
     Region          821..856
                     /region_name="VHP"
                     /note="Villin headpiece domain; smart00153"
                     /db_xref="CDD:128458"
     CDS             1..856
                     /gene="VILL"
                     /coded_by="NM_001385038.1:170..2740"
                     /note="isoform 1 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS2670.2"
                     /db_xref="GeneID:50853"
                     /db_xref="HGNC:HGNC:30906"
                     /db_xref="MIM:619666"
ORIGIN      
        1 mdiskglpgm qgglhiwise nrkmvpvpeg aygnffeehc yvilhvpqsp katqgassdl
       61 hywvgkqaga eaqgaaeafq qrlqdelggq tvlhreaqgh esdcfcsyfr pgiiyrkggl
      121 asdlkhvetn lfniqrllhi kgrkhvsate velswnsfnk gdiflldlgk mmiqwngpkt
      181 sisekargla ltyslrdrer gggraqigvv ddeakapdlm qimeavlgrr vgslraatps
      241 kdinqlqkan vrlyhvyekg kdlvvlelat ppltqdllqe edfyildqgg fkiyvwqgrm
      301 sslqerkaaf sravgfiqak gyptytnvev vndgaesaaf kqlfrtwsek rrrnqklggr
      361 dksihvkldv gklhtqpkla aqlrmvddgs gkvevwciqd lhrqpvdpkr hgqlcagncy
      421 lvlytyqrlg rvqyilylwq ghqatadeie alnsnaeeld vmyggvlvqe hvtmgsepph
      481 flaifqgqlv ifqeraghhg kgqsasttrl fqvqgtdshn trtmevpara sslnssdifl
      541 lvtasvcylw fgkgcngdqr emarvvvtvi srkneetvle gqepphfwea lggrapypsn
      601 krlpeevpsf qprlfecssh mgclvlaevg ffsqedldky dimlldtwqe iflwlgeaas
      661 ewkeavawgq eylkthpagr spatpivlvk qghepptfig wfftwdpykw tshpshkevv
      721 dgspaaasti seitaevnnl rlsrwpgngr agavalqalk gsqdssendl vrspksagsr
      781 tsssvsstsa tingglrreq lmhqavedlp egvdparref ylsdsdfqdi fgkskeefys
      841 matwrqrqek kqlgff
//
LOCUS       NP_997636                381 aa            linear   PRI 20-MAR-2023
DEFINITION  cAMP-dependent protein kinase type I-alpha regulatory subunit
            isoform a [Homo sapiens].
ACCESSION   NP_997636
VERSION     NP_997636.1
DBSOURCE    REFSEQ: accession NM_212471.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 381)
  AUTHORS   Calvo SE, Pagliarini DJ and Mootha VK.
  TITLE     Upstream open reading frames cause widespread reduction of protein
            expression and are polymorphic among humans
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7507-7512 (2009)
   PUBMED   19372376
  REMARK    GeneRIF: Includes the study of a disease-related upstream ORF in
            this gene, and shows that it functions to reduce protein levels by
            ~95%.
REFERENCE   2  (residues 1 to 381)
  AUTHORS   Gupte RS, Pozarowski P, Grabarek J, Traganos F, Darzynkiewicz Z and
            Lee MY.
  TITLE     RIalpha influences cellular proliferation in cancer cells by
            transporting RFC40 into the nucleus
  JOURNAL   Cancer Biol Ther 4 (4), 429-437 (2005)
   PUBMED   15846072
  REMARK    GeneRIF: A nonconventional nuclear localization sequence (NLS) has
            been found for PRKAR1A. This suggests a new function for PRKAR1A as
            a nuclear transport protein for the second subunit of RFC40.
REFERENCE   3  (residues 1 to 381)
  AUTHORS   Bossis I and Stratakis CA.
  TITLE     Minireview: PRKAR1A: normal and abnormal functions
  JOURNAL   Endocrinology 145 (12), 5452-5458 (2004)
   PUBMED   15331577
  REMARK    GeneRIF: PRKAR1A might function as a tumor suppressor gene
            Review article
REFERENCE   4  (residues 1 to 381)
  AUTHORS   Stergiopoulos SG and Stratakis CA.
  TITLE     Human tumors associated with Carney complex and germline PRKAR1A
            mutations: a protein kinase A disease!
  JOURNAL   FEBS Lett 546 (1), 59-64 (2003)
   PUBMED   12829237
  REMARK    Review article
REFERENCE   5  (residues 1 to 381)
  AUTHORS   Stratakis,C.A. and Raygada,M.
  TITLE     Carney Complex
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301463
REFERENCE   6  (residues 1 to 381)
  AUTHORS   Jones KW, Shapero MH, Chevrette M and Fournier RE.
  TITLE     Subtractive hybridization cloning of a tissue-specific
            extinguisher: TSE1 encodes a regulatory subunit of protein kinase A
  JOURNAL   Cell 66 (5), 861-872 (1991)
   PUBMED   1889088
REFERENCE   7  (residues 1 to 381)
  AUTHORS   Boshart M, Weih F, Nichols M and Schutz G.
  TITLE     The tissue-specific extinguisher locus TSE1 encodes a regulatory
            subunit of cAMP-dependent protein kinase
  JOURNAL   Cell 66 (5), 849-859 (1991)
   PUBMED   1832337
REFERENCE   8  (residues 1 to 381)
  AUTHORS   Sandberg M, Skalhegg B and Jahnsen T.
  TITLE     The two mRNA forms for the type I alpha regulatory subunit of
            cAMP-dependent protein kinase from human testis are due to the use
            of different polyadenylation site signals
  JOURNAL   Biochem Biophys Res Commun 167 (1), 323-330 (1990)
   PUBMED   2310396
REFERENCE   9  (residues 1 to 381)
  AUTHORS   Sandberg M, Tasken K, Oyen O, Hansson V and Jahnsen T.
  TITLE     Molecular cloning, cDNA structure and deduced amino acid sequence
            for a type I regulatory subunit of cAMP-dependent protein kinase
            from human testis
  JOURNAL   Biochem Biophys Res Commun 149 (3), 939-945 (1987)
   PUBMED   3426618
REFERENCE   10 (residues 1 to 381)
  AUTHORS   Geahlen,R.L., Carmichael,D.F., Hashimoto,E. and Krebs,E.G.
  TITLE     Phosphorylation of cAMP-dependent protein kinase subunits
  JOURNAL   Adv Enzyme Regul 20, 195-209 (1982)
   PUBMED   6287816
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA413808.1, BC093042.1,
            AC079210.12 and AY007115.1.
            
            Summary: cAMP is a signaling molecule important for a variety of
            cellular functions. cAMP exerts its effects by activating the
            cAMP-dependent protein kinase, which transduces the signal through
            phosphorylation of different target proteins. The inactive kinase
            holoenzyme is a tetramer composed of two regulatory and two
            catalytic subunits. cAMP causes the dissociation of the inactive
            holoenzyme into a dimer of regulatory subunits bound to four cAMP
            and two free monomeric catalytic subunits. Four different
            regulatory subunits and three catalytic subunits have been
            identified in humans. This gene encodes one of the regulatory
            subunits. This protein was found to be a tissue-specific
            extinguisher that down-regulates the expression of seven liver
            genes in hepatoma x fibroblast hybrids. Mutations in this gene
            cause Carney complex (CNC). This gene can fuse to the RET
            protooncogene by gene rearrangement and form the thyroid
            tumor-specific chimeric oncogene known as PTC2. A nonconventional
            nuclear localization sequence (NLS) has been found for this protein
            which suggests a role in DNA replication via the protein serving as
            a nuclear transport protein for the second subunit of the
            Replication Factor C (RFC40). Several alternatively spliced
            transcript variants encoding two different isoforms have been
            observed. [provided by RefSeq, Jan 2013].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.2689438.1, BC093042.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..381
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.2"
     Protein         1..381
                     /product="cAMP-dependent protein kinase type I-alpha
                     regulatory subunit isoform a"
                     /EC_number="2.7.11.1"
                     /note="tissue-specific extinguisher 1; cAMP-dependent
                     protein kinase type I-alpha regulatory chain;
                     cAMP-dependent protein kinase regulatory subunit RIalpha;
                     protein kinase A type 1a regulatory subunit; epididymis
                     secretory sperm binding protein; protein kinase,
                     cAMP-dependent, regulatory, type I, alpha; Carney complex
                     type 1; protein kinase, cAMP-dependent, regulatory subunit
                     type I alpha"
                     /calculated_mol_wt=42851
     Region          1..136
                     /region_name="Dimerization and phosphorylation"
                     /note="propagated from UniProtKB/Swiss-Prot (P10644.1)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000269|PubMed:12665801,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P10644.1)"
     Site            3
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P09456; propagated from
                     UniProtKB/Swiss-Prot (P10644.1)"
     Region          14..63
                     /region_name="DD_RIalpha_PKA"
                     /note="dimerization/docking (D/D) domain of the Type I
                     alpha Regulatory subunit of cAMP-dependent protein kinase;
                     cd12101"
                     /db_xref="CDD:438522"
     Site            order(15,18..19,28..29,31..32,35..36)
                     /site_type="other"
                     /note="AKAP interaction site [polypeptide binding]"
                     /db_xref="CDD:438522"
     Site            order(18,21..22,27,30..31,34..35,38..39,43,45..48,50..51,
                     54..55,58)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:438522"
     Region          64..96
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P10644.1)"
     Site            75
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P10644.1)"
     Site            77
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P10644.1)"
     Site            83
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18318008, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19367720, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P10644.1)"
     Region          96..100
                     /region_name="Pseudophosphorylation motif"
                     /note="propagated from UniProtKB/Swiss-Prot (P10644.1)"
     Site            101
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9DBC7; propagated from
                     UniProtKB/Swiss-Prot (P10644.1)"
     Region          137..246
                     /region_name="CAP_ED"
                     /note="effector domain of the CAP family of transcription
                     factors; members include CAP (or cAMP receptor protein
                     (CRP)), which binds cAMP, FNR (fumarate and nitrate
                     reduction), which uses an iron-sulfur cluster to sense
                     oxygen) and CooA, a heme containing CO...; cd00038"
                     /db_xref="CDD:237999"
     Site            order(201..202,211..213)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:237999"
     Site            order(233..235,239..241)
                     /site_type="other"
                     /note="flexible hinge region"
                     /db_xref="CDD:237999"
     Region          255..370
                     /region_name="CAP_ED"
                     /note="effector domain of the CAP family of transcription
                     factors; members include CAP (or cAMP receptor protein
                     (CRP)), which binds cAMP, FNR (fumarate and nitrate
                     reduction), which uses an iron-sulfur cluster to sense
                     oxygen) and CooA, a heme containing CO...; cd00038"
                     /db_xref="CDD:237999"
     Site            258
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P09456; propagated from
                     UniProtKB/Swiss-Prot (P10644.1)"
     Site            order(325..326,335..337)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:237999"
     Site            order(357..359,363..365)
                     /site_type="other"
                     /note="flexible hinge region"
                     /db_xref="CDD:237999"
     CDS             1..381
                     /gene="PRKAR1A"
                     /gene_synonym="ACRDYS1; ADOHR; CAR; CNC; CNC1; PKR1;
                     PPNAD1; PRKAR1; TSE1"
                     /coded_by="NM_212471.3:150..1295"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS11678.1"
                     /db_xref="GeneID:5573"
                     /db_xref="HGNC:HGNC:9388"
                     /db_xref="MIM:188830"
ORIGIN      
        1 mesgstaase earslrecel yvqkhniqal lkdsivqlct arperpmafl reyferleke
       61 eakqiqnlqk agtrtdsred eisppppnpv vkgrrrrgai saevyteeda asyvrkvipk
      121 dyktmaalak aieknvlfsh lddnersdif damfsvsfia getviqqgde gdnfyvidqg
      181 etdvyvnnew atsvgeggsf gelaliygtp raatvkaktn vklwgidrds yrrilmgstl
      241 rkrkmyeefl skvsilesld kwerltvada lepvqfedgq kivvqgepgd effiilegsa
      301 avlqrrsene efvevgrlgp sdyfgeiall mnrpraatvv argplkcvkl drprfervlg
      361 pcsdilkrni qqynsfvsls v
//
LOCUS       XP_047280711             551 aa            linear   PRI 20-MAR-2023
DEFINITION  monocarboxylate transporter 9 isoform X1 [Homo sapiens].
ACCESSION   XP_047280711
VERSION     XP_047280711.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424755.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..551
                     /product="monocarboxylate transporter 9 isoform X1"
                     /calculated_mol_wt=60432
     Region          12..524
                     /region_name="MFS_MCT9"
                     /note="Monocarboxylate transporter 9 of the Major
                     Facilitator Superfamily of transporters; cd17428"
                     /db_xref="CDD:340986"
     Site            order(23..24,27..28,31,66,117..118,120..122,125,144,
                     147..148,151,313,316..317,320..322,325,353,357,408..409,
                     413,417,432,435..436,439..440,443)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:340986"
     CDS             1..551
                     /gene="SLC16A9"
                     /gene_synonym="C10orf36; MCT9"
                     /coded_by="XM_047424755.1:61..1716"
                     /db_xref="GeneID:220963"
                     /db_xref="HGNC:HGNC:23520"
                     /db_xref="MIM:614242"
ORIGIN      
        1 melkkspdgg wgwvivfvsf ltqflcygsp lavgvlyiew ldafgegkgk tawvgslasg
       61 vgllaspvcs lcvssfgarp vtifsgfmva gglmlssfap niyflffsyg ivvglgcgll
      121 ytatvtitcq yfddrrglal glistgssvg lfiyaalqrm lvefygldgc llivgalaln
      181 ilacgslmrp lqssdcplpk kiapedlpdk ysiynekgkn leeninildk sysseekcri
      241 tlangdwkqd sllhknptvt htkepetykk kvaeqtyfck qlakrkwqly knycgetval
      301 fknkvfsalf iaillfdigg fppsllmedv arssnvkeee fimplisiig imtavgklll
      361 giladfkwin tlylyvatli imglalcaip faksyvtlal lsgilgfltg nwsifpyvtt
      421 ktvgieklah aygilmffag lgnslgppiv gkifilkssh ftvlpchisr yrgpdcnsst
      481 dlykrnlhgt shgwfydwtq tydiafyfsg fcvllggfil llaalpswdt cnkqlpkpap
      541 ttflykvasn v
//
LOCUS       XP_011540900             547 aa            linear   PRI 20-MAR-2023
DEFINITION  NXPE family member 1 isoform X1 [Homo sapiens].
ACCESSION   XP_011540900
VERSION     XP_011540900.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011542598.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..547
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..547
                     /product="NXPE family member 1 isoform X1"
                     /calculated_mol_wt=63047
     Region          <131..265
                     /region_name="Neurexophilin"
                     /note="pfam06312"
                     /db_xref="CDD:428882"
     CDS             1..547
                     /gene="NXPE1"
                     /gene_synonym="FAM55A"
                     /coded_by="XM_011542598.4:124..1767"
                     /db_xref="GeneID:120400"
                     /db_xref="HGNC:HGNC:28527"
ORIGIN      
        1 mssntmlqkt llilisfsvv twmifiisqn ftklwsalnl sisvhywnns akslfpktsl
       61 iplkpltete lrikeiiekl dqqipprpft hvntttsath statilnprd tycrgdqldi
      121 llevrdhlgq rkqyggdflr armsspalta gasgkvmdfn ngtylvsftl fwegqvslsl
      181 llihpsegas alwrarnqgy dkiifkgkfv ngtshvftec gltlnsnael ceylddrdqe
      241 afycmkpqhm pcealtymtt rnrevsyltd kenslfhrsk vgvemmkdrk hidvtncnkr
      301 ekieetcqvg mkppvpggyt lqgkwittfc nqvqldtiki ngclkgkliy llgdstlrqw
      361 iyyfpkvvkt lkffdlhetg ifkkhlllda erhtqiqwkk hsypfvtfql yslidhdyip
      421 reidrlsgdk ntaivitfgq hfrpfpidif irraigvqka ierlflrspa tkviikteni
      481 remhieterf gdfhgyihyl imkdifkdln vgiidawdmt iaygtdtihp pdhvignqin
      541 mflnyic
//
LOCUS       XP_047282340             656 aa            linear   PRI 20-MAR-2023
DEFINITION  X-ray radiation resistance-associated protein 1 isoform X12 [Homo
            sapiens].
ACCESSION   XP_047282340
VERSION     XP_047282340.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426384.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..656
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..656
                     /product="X-ray radiation resistance-associated protein 1
                     isoform X12"
                     /calculated_mol_wt=74280
     Region          117..139
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          138..216
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          140..171
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          181..205
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     CDS             1..656
                     /gene="XRRA1"
                     /coded_by="XM_047426384.1:237..2207"
                     /db_xref="GeneID:143570"
                     /db_xref="HGNC:HGNC:18868"
                     /db_xref="MIM:609788"
ORIGIN      
        1 mafsgiykld dgkpylnncf parnllrvpe egqghwlvvq kgnlkkkpkg lvgaqaerre
       61 slkatsfefk gkkesrrenq vdlpghildq afllkhhcvr kpsdlctinv sglkfskfld
      121 lsfnsltvea icdlgilphl rvllltgngl tslppnlava eqeasvtslt skryilrfpa
      181 letlmlddnr lsnpscfasl aglrrlkkls ldenriirip ylqqvqlyde svdwnggrgs
      241 phkepqfmlq skprmledsd eqldytvlpm kkdvdrtgvp pllksflqer lgihlirrki
      301 vkpkhhvlms rkeswkvkse ipkvpkqplv lhhprmtttk spskdmlepe aelaedlptt
      361 kstsvesemp tenleghsps crtfvplppi csnstvhsee tlshlsdttv rlsperpsde
      421 dskstesifl tqvselpssv ihkddlelke kdqkkpptap revkgtrrkl ptaflpskyh
      481 gyeelltakp dpafiepkgi qknaqalqqm lkhpllchss kpkldtlqkp yvhkekraqr
      541 ipipppkktr aqllddifir lrdprnitea plgavlhqwt errlvnhkqy leakrllkef
      601 qaryrqlvsg slrtvfgttp lpmacpalse sqpkfghfle fmdefcqept asdsqg
//
LOCUS       XP_047284683             516 aa            linear   PRI 20-MAR-2023
DEFINITION  probable C-mannosyltransferase DPY19L2 isoform X16 [Homo sapiens].
ACCESSION   XP_047284683
VERSION     XP_047284683.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428727.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..516
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..516
                     /product="probable C-mannosyltransferase DPY19L2 isoform
                     X16"
                     /calculated_mol_wt=59458
     Region          103..>477
                     /region_name="Dpy19"
                     /note="C-mannosyltransferase Dpy19; cl41786"
                     /db_xref="CDD:455131"
     Region          105..121
                     /region_name="putative TM segment 1"
                     /note="putative TM segment 1 [structural motif]"
                     /db_xref="CDD:439130"
     Region          241..262
                     /region_name="putative TM segment 2"
                     /note="putative TM segment 2 [structural motif]"
                     /db_xref="CDD:439130"
     Region          275..290
                     /region_name="putative TM segment 5"
                     /note="putative TM segment 5 [structural motif]"
                     /db_xref="CDD:439130"
     Region          296..314
                     /region_name="putative TM segment 6"
                     /note="putative TM segment 6 [structural motif]"
                     /db_xref="CDD:439130"
     Region          322..339
                     /region_name="putative TM segment 7"
                     /note="putative TM segment 7 [structural motif]"
                     /db_xref="CDD:439130"
     Region          342..358
                     /region_name="putative TM segment 8"
                     /note="putative TM segment 8 [structural motif]"
                     /db_xref="CDD:439130"
     Region          376..394
                     /region_name="putative TM segment 9"
                     /note="putative TM segment 9 [structural motif]"
                     /db_xref="CDD:439130"
     Region          446..467
                     /region_name="putative TM segment 10"
                     /note="putative TM segment 10 [structural motif]"
                     /db_xref="CDD:439130"
     CDS             1..516
                     /gene="DPY19L2"
                     /gene_synonym="SPATA34; SPGF9"
                     /coded_by="XM_047428727.1:101..1651"
                     /db_xref="GeneID:283417"
                     /db_xref="HGNC:HGNC:19414"
                     /db_xref="MIM:613893"
ORIGIN      
        1 mrkqgvsskr lqssgrsqsk grrgaslare peveeemeks algggklprg swrsspgriq
       61 slkerkglel evvaktfllg pfqfvrnsla qlrekvqelq arrfssrttl giavfvailh
      121 wlhlvtlfen drhfshlssl eremtfrtem glyysyfkti ieapsflegl wmimndrlte
      181 ypliinaikr fhlypeviia swyctfmgim nlfgletktc wnvtriepln evqsceglgd
      241 pacfyvgvif ilnglmmglf fmygaylrts sndrrpfial clsnvafmlp wqfaqfilft
      301 qiaslfpmyv vgyiepskfq kiiymnmisv tlsfilmfgn smylssyyss sllmtwaiil
      361 krneiqklgv sklnfwliqg sawwcgtiil kfltskilgv sdhirlsdli aarilrytdf
      421 dtliytcape fdfmekatpl rytktlllpv vmvitcfifk ktvrdisyvl atniylrccl
      481 crchayngkh qavytsshce sstlrrcrle awlqya
//
LOCUS       XP_047286178            1155 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine nucleotide exchange factor DBS isoform X11 [Homo sapiens].
ACCESSION   XP_047286178
VERSION     XP_047286178.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430222.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1155
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..1155
                     /product="guanine nucleotide exchange factor DBS isoform
                     X11"
                     /calculated_mol_wt=129595
     Region          76..221
                     /region_name="SEC14"
                     /note="Domain in homologues of a S. cerevisiae
                     phosphatidylinositol transfer protein (Sec14p);
                     smart00516"
                     /db_xref="CDD:214706"
     Site            order(93,95,97,121,135,137,145,149,153,157,160,163,165,
                     172,180,192)
                     /site_type="other"
                     /note="phospholipid binding pocket [chemical binding]"
                     /db_xref="CDD:238099"
     Site            order(158,191)
                     /site_type="other"
                     /note="salt bridge"
                     /db_xref="CDD:238099"
     Region          352..539
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            457..462
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          632..809
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(638,642,739,761..762,765..766,768..769,772..773,
                     776..777,780,805,809)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          816..947
                     /region_name="PH_Dbs"
                     /note="DBL's big sister protein pleckstrin homology (PH)
                     domain; cd01227"
                     /db_xref="CDD:269934"
     Site            order(886,888)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:269934"
     Region          1059..1112
                     /region_name="SH3_DBS"
                     /note="Src homology 3 domain of DBL's Big Sister (DBS), a
                     guanine nucleotide exchange factor; cd11857"
                     /db_xref="CDD:212791"
     Site            order(1064,1066,1069,1073,1091..1092,1107,1109..1110)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212791"
     CDS             1..1155
                     /gene="MCF2L"
                     /gene_synonym="ARHGEF14; DBS; OST"
                     /coded_by="XM_047430222.1:167..3634"
                     /db_xref="GeneID:23263"
                     /db_xref="HGNC:HGNC:14576"
                     /db_xref="MIM:609499"
ORIGIN      
        1 mfdcwrfilc krpgsnsyss pqrpneakke etdhqidvsd virlvqdtpe atamatdeim
       61 hqdivplcaa diqdqlkkrf aylsggrgqd gspvitfpdy pafseipdke fqnvmtylts
      121 ipslqdagig filvidrrrd kwtsvkasvl riaasfpanl qlvlvlrptg ffqrtlsdia
      181 fkfnrddfkm kvpvimlssv pdlhgyidks qltedlggtl dychsrwlcq rtaiesfalm
      241 vkqtaqmlqs fgtelaetel pndvqstssv lcahtekkdk akedlrlalk eghsvleslr
      301 elqaegseps vnqdqldnqa tvqrllaqln eteaafdefw akhqqkleqc lqlrhfeqgf
      361 revkaildaa sqkiatftdi gnslahvehl lrdlasfeek sgvaverara lsldgeqlig
      421 nkhyavdsir pkcqelrhlc dqfsaeiarr rgllskslel hrrletsmkw cdegiyllas
      481 qpvdkcqsqd gaeaalqeie kfletgaenk iqelnaiyke yesilnqdlm ehvrkvfqkq
      541 asmeevfhrr qaslkklaar qtrpvqpvap rpealakspc pspgirrgse nssseggalr
      601 rgpyrrakse msesrqgrgs ageeeeslai lrrhvmsell dterayveel lcvlegyaae
      661 mdnplmahll stglhnkkdv lfgnmeeiyh fhnriflrel enytdcpelv grcflermed
      721 fqiyekycqn kprseslwrq csdcpffqec qrkldhklsl dsyllkpvqr itkyqlllke
      781 mlkysrnceg aedlqealss ilgilkavnd smhliaitgy dgnlgdlgkl lmqgsfsvwt
      841 dhkrghtkvk elarfkpmqr hlflhekavl fckkreenge gyekapsysy kqslnmaavg
      901 itenvkgdak kfeiwynare evyivqaptp eikaawvnei rkvltsqlqa creasqhral
      961 eqsqslplpa ptstspsrgn srnikkleer ktdplslegy vssapltkpp ekgkgwskts
     1021 hsleapeddg gwssaeeqin ssdaeedggl gpkklvpgky tvvadhekgg pdalrvrsgd
     1081 vvelvqegde glwyvrdptt gkegwvpass lsvrlgpsgs aqclsssess pgsavlsnss
     1141 scseggqapf sdlqg
//
LOCUS       XP_047288096             712 aa            linear   PRI 20-MAR-2023
DEFINITION  threonine--tRNA ligase 2, cytoplasmic isoform X1 [Homo sapiens].
ACCESSION   XP_047288096
VERSION     XP_047288096.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432140.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..712
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..712
                     /product="threonine--tRNA ligase 2, cytoplasmic isoform
                     X1"
                     /calculated_mol_wt=82434
     Region          122..691
                     /region_name="PLN02908"
                     /note="threonyl-tRNA synthetase"
                     /db_xref="CDD:178496"
     CDS             1..712
                     /gene="TARS3"
                     /gene_synonym="TARSL2; ThrRS-L"
                     /coded_by="XM_047432140.1:87..2225"
                     /db_xref="GeneID:123283"
                     /db_xref="HGNC:HGNC:24728"
ORIGIN      
        1 maaealaaea vasrlerqee dirwlwseve rlrdeqlnap yscqaegpcl trevaqlrae
       61 ncdlrhrlcs lrlclaeers rqatlesael eaaqeagaqp ppsqsqdkdm kkkkmkesea
      121 dsevkhqpif ikerlklfei lkkdhqllla iygkkgdtsn iitvrvadgq tvqgevwktt
      181 pyqvaaeisq elaestviak vngelwdldr plegdsslel ltfdneeaqa vywhssahil
      241 geamelyygg hlcygppien gfyydmfied ravsstelsa lenickaiik ekqpferlev
      301 skeillemfk ynkfkcriln ekvntatttv yrcgplidlc kgphvrhtgk iktikifkns
      361 stywegnpem etlqriygis fpdnkmmrdw ekfqeeaknr dhrkigkeqe lfffhdlspg
      421 scfflprgaf iyntltdfir eeyhkrdfte vlspnmynsk lweasghwqh ysenmftfei
      481 ekdtfalkpm ncpghclmfa hrprswremp irfadfgvlh rnelsgtlsg ltrvrrfqqd
      541 dahifctveq ieeeikgclq flqsvystfg fsfqlnlstr penflgeiem wneaekqlqn
      601 slmdfgepwk mnpgdgafyg pkidikikda igryhqcati qldfqlpirf nltyvskdgd
      661 dkkrpviihr ailgsvermi ailsenyggk wypvnflkkd lwltltwitv vh
//
LOCUS       XP_047292899            1594 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 32 isoform X7 [Homo sapiens].
ACCESSION   XP_047292899
VERSION     XP_047292899.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436943.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1594
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1594
                     /product="ubiquitin carboxyl-terminal hydrolase 32 isoform
                     X7"
                     /calculated_mol_wt=180391
     Region          179..329
                     /region_name="FRQ1"
                     /note="Ca2+-binding protein, EF-hand superfamily [Signal
                     transduction mechanisms]; COG5126"
                     /db_xref="CDD:227455"
     Region          508..1306
                     /region_name="UBP12"
                     /note="Ubiquitin C-terminal hydrolase [Posttranslational
                     modification, protein turnover, chaperones]; COG5560"
                     /db_xref="CDD:227847"
     Region          <1221..1554
                     /region_name="UCH"
                     /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443"
                     /db_xref="CDD:425685"
     CDS             1..1594
                     /gene="USP32"
                     /gene_synonym="NY-REN-60; USP10"
                     /coded_by="XM_047436943.1:14504..19288"
                     /db_xref="GeneID:84669"
                     /db_xref="HGNC:HGNC:19143"
                     /db_xref="MIM:607740"
ORIGIN      
        1 mgiyiervvv tdvelkrlkd afkrtcglsy ymgqhcfire vlgdgvppkv aeviycsfgg
       61 tskglhfnnl ivglvlltrg kdeekakyif slfssesgny vireemerml hvvdgkvpdt
      121 lrkcfsegek vnyekfrnwl flnkdaftfs rwllsggvyv tltddsdtpt fyqtlagvth
      181 leesdiidle krywllkaqs rtgrfdletf gplvsppirp slseglfnaf denrdnhidf
      241 keiscglsac crgplaerqk fcfkvfdvdr dgvlsrvelr dmvvallevw kdnrtddipe
      301 lhmdlsdive gilnahdttk mghltledyq iwsvknvlan eflnllfqvc hivlglrpat
      361 peeegqiirg wleresrygl qaghnwfiis mqwwqqwkey vkydanpvvi epssvlnggk
      421 ysfgtaahpm eqvedrigss lsyvntteek fsdnistase asetagsgfl ysatpgadvc
      481 farqhntsdn nnqcllgang nillhlnpqk pgaidnqplv tqepvkatsl tleggrlkrt
      541 pqlihgrdye mvpepvwral yhwyganlal prpviknskt dipelelfpr yllflrqqpa
      601 trtqqsniwv nmgnvpspna plkrvlaytg cfsrmqtike iheylsqrlr ikeedmrlwl
      661 ynsenyltll ddedhkleyl kiqdeqhlvi evrnkdmswp eemsfianss kidrhkvpte
      721 kgatglsnlg ntcfmnssiq cvsntqpltq yfisgrhlye lnrtnpigmk ghmakcygdl
      781 vqelwsgtqk nvaplklrwt iakyaprfng fqqqdsqell aflldglhed lnrvhekpyv
      841 elkdsdgrpd wevaaeawdn hlrrnrsivv dlfhgqlrsq vkcktcghis vrfdpfnfls
      901 lplpmdsymh leitvikldg ttpvryglrl nmdekytglk kqlsdlcgln seqillaevh
      961 gsniknfpqd nqkvrlsvsg flcafeipvp vspisasspt qtdfssspst nemftlttng
     1021 dlprpifipn gmpntvvpcg teknftngmv nghmpslpds pftgyiiavh rkmmrtelyf
     1081 lssqknrpsl fgmplivpct vhtrkkdlyd avwiqvsrla splppqeasn haqdcddsmg
     1141 yqypftlrvv qkdgnscawc pwyrfcrgck idcgedrafi gnayiavdwd ptalhlryqt
     1201 sqervvdehe sveqsrraqa epinldsclr aftseeelge nemyycskck thclatkkld
     1261 lwrlppilii hlkrfqfvng rwiksqkivk fpresfdpsa flvprdpalc qhkpltpqgd
     1321 elseprilar evkkvdaqss ageedvllsk spsslsanii sspkgspsss rksgtscpss
     1381 knsspnsspr tlgrskgrlr lpqigsknkl ssskenldas kengagqice ladalsrghv
     1441 lggsqpelvt pqdhevalan gflyeheacg ngysngqlgn hseedstddq redtrikpiy
     1501 nlyaischsg ilggghyvty aknpnckwyc yndssckelh pdeidtdsay ilfyeqqgid
     1561 yaqflpktdg kkmadtssmd edfesdykky cvlq
//
LOCUS       XP_006712814             527 aa            linear   PRI 20-MAR-2023
DEFINITION  FAST kinase domain-containing protein 1, mitochondrial isoform X5
            [Homo sapiens].
ACCESSION   XP_006712814
VERSION     XP_006712814.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006712751.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..527
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..527
                     /product="FAST kinase domain-containing protein 1,
                     mitochondrial isoform X5"
                     /calculated_mol_wt=60253
     Region          255..324
                     /region_name="FAST_1"
                     /note="FAST kinase-like protein, subdomain 1; pfam06743"
                     /db_xref="CDD:429093"
     Region          342..423
                     /region_name="FAST_2"
                     /note="FAST kinase-like protein, subdomain 2; pfam08368"
                     /db_xref="CDD:429950"
     Region          459..518
                     /region_name="RAP"
                     /note="This domain is found in various eukaryotic species,
                     particularly in apicomplexans; smart00952"
                     /db_xref="CDD:214932"
     CDS             1..527
                     /gene="FASTKD1"
                     /coded_by="XM_006712751.5:1458..3041"
                     /db_xref="GeneID:79675"
                     /db_xref="HGNC:HGNC:26150"
                     /db_xref="MIM:617529"
ORIGIN      
        1 metrlkstml lmsedltgeq alavlgamgd mesrnsclik rvtsvlhkhl dgykplellk
       61 itqeltflhf qrkeffaklr elllsylkns fiptevsvlv raisllpsph ldevgisrie
      121 avlpqcdlnn lssfatsvlr wiqhdhmyld nmtakqlkll qkldhygrqr lqhsnsldll
      181 rkelkslkgn tfpeslleem iatlqhfmdd inyinvgeia sfisstdyls tllldriasv
      241 avqqiekihp ftipaiirpf svlnydppqr deflgtcvqh lnsylgildp filvflgfsl
      301 atleyfpedl lkaifnikfl arldsqleil spsrsarvqf hlmelnrsvc lecpefqipw
      361 fhdrfcqqyn kgiggmdgtq qqifkmlaev lggincvkas vltpyyhkvd fecildkrkk
      421 plpygshnia lgqlpempwe snieivgsrl ppgaeriale fldskalcrn iphmkgksam
      481 kkrhleilgy rviqisqfew nsmalstkda rmdylrecif gevkscl
//
LOCUS       XP_047296231             289 aa            linear   PRI 20-MAR-2023
DEFINITION  threonine aspartase 1 isoform X7 [Homo sapiens].
ACCESSION   XP_047296231
VERSION     XP_047296231.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440275.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..289
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..289
                     /product="threonine aspartase 1 isoform X7"
                     /calculated_mol_wt=30128
     Region          42..285
                     /region_name="Taspase1_like"
                     /note="Taspase 1 (threonine aspartase 1) and similar
                     proteins; cd04514"
                     /db_xref="CDD:271336"
     CDS             1..289
                     /gene="TASP1"
                     /gene_synonym="C20orf13; dJ585I14.2; SULEHS"
                     /coded_by="XM_047440275.1:453..1322"
                     /db_xref="GeneID:55617"
                     /db_xref="HGNC:HGNC:15859"
                     /db_xref="MIM:608270"
ORIGIN      
        1 mtmekgmssg eglpsrssqv sagkitakel etkqsykekr ggfvlvhaga gyhseskake
       61 ykhvckracq kaieklqaga latdavtaal veleendsgt ldtvgavvvd hegnvaaavs
      121 sgglalkhpg rvgqaalygc gcwaentgah npystavsts gcgehlvrti larecshalq
      181 aedahqalle tmqnkfissp flasedgvlg gvivlrscrc saepdssqnk qtllveflws
      241 httesmcvgy msaqdgkakt hisrlppgav agqsvaiegg vcrlespvn
//
LOCUS       XP_047296753             865 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and BTB domain-containing protein 21 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047296753
VERSION     XP_047296753.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440797.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..865
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..865
                     /product="zinc finger and BTB domain-containing protein 21
                     isoform X2"
                     /calculated_mol_wt=95677
     Region          12..123
                     /region_name="BTB_POZ_ZBTB21_ZNF295"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in zinc finger and
                     BTB domain-containing protein 21 (ZBTB21); cd18209"
                     /db_xref="CDD:349518"
     Region          545..572
                     /region_name="zf_C2H2_6"
                     /note="Zinc Finger domain; pfam18450"
                     /db_xref="CDD:408245"
     Region          710..730
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Site            order(715,717,719,721..722,725..726,729,743,745..747,
                     753..754,758)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275370"
     Region          738..759
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Region          842..864
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     CDS             1..865
                     /gene="ZBTB21"
                     /gene_synonym="ZNF295"
                     /coded_by="XM_047440797.1:815..3412"
                     /db_xref="GeneID:49854"
                     /db_xref="HGNC:HGNC:13083"
                     /db_xref="MIM:616485"
ORIGIN      
        1 megllhyinp ahaisllsal neerlkgqlc dvllivgdqk frahknvlaa sseyfqslft
       61 nkenesqtvf qldfcepdaf dnvlnyiyss slfvekssla avqelgyslg isfltnivsk
      121 tpqapfptcp nrkkvfvedd enssqkrsvi vcqsrneaqg ktvsqnqpdv shtsrpspsi
      181 avkantnkph vpkpieplhn lsltekswpk dssvvyaksl ehsgslddpn rislvkrnav
      241 lpskplqdre amddkpgvsg qlpkgkalel alkrprppvl svcsssetpy llketnkgng
      301 qgedrnllyy sklglvipss gsgsgnqsid rsgplvksll rrslsmdsqv pvyspsidlk
      361 ssqgsssvss dapgnvlcal sqksslkdcs ektalddrpq vlqphrlrsf sasqstdreg
      421 aspvtevrik tepssplsdp sdiirvtvgd aattaaasss svtrdlslkt eddqkdmsrl
      481 pakrrfqadr rlpfkklkvn ehgspvsedn feegssptll dadfpdsdln kdefeqgshe
      541 rlcrnaavcp ycslrffspe lkqeheskce ykkltclecm rtfkssfsiw rhqvevhnqn
      601 nmaptenfsl pvldhngdvt gssrpqsqpe pnkvnhivtt kddnvfsdss eqvnfdseds
      661 sclpedlsls kqlkiqvkee pveeaeeeap eastapkeag pskeaslwpc ekcgkmftvh
      721 kqlerhqell csvkpfichv cnkafrtnfr lwshfqshms qaseesahke sevcpvptns
      781 psppplpppp plpkiqplep dsptglsenp tpateklfvp qesdtlfyha pplsaitfkr
      841 qfmcklchrt fktafslwsh eqthn
//
LOCUS       XP_047297084             243 aa            linear   PRI 20-MAR-2023
DEFINITION  transport and Golgi organization protein 2 homolog isoform X9 [Homo
            sapiens].
ACCESSION   XP_047297084
VERSION     XP_047297084.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441128.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..243
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..243
                     /product="transport and Golgi organization protein 2
                     homolog isoform X9"
                     /calculated_mol_wt=26454
     Region          60..>242
                     /region_name="TANGO2"
                     /note="Transport and Golgi organisation 2; pfam05742"
                     /db_xref="CDD:428613"
     CDS             1..243
                     /gene="TANGO2"
                     /gene_synonym="C22orf25; MECRCN"
                     /coded_by="XM_047441128.1:296..1027"
                     /db_xref="GeneID:128989"
                     /db_xref="HGNC:HGNC:25439"
                     /db_xref="MIM:616830"
ORIGIN      
        1 mppkllcagr cvgqdgaaqa whcppgqghs vwdavrmplg agtpvnvqrr edsategshr
       61 lilaanrdef ysrpskladf wgnnneilsg ldmeegkegg twlgistrgk laaltnylqp
      121 qldwqargrg elvthflttd vdslsylkkv smeghlyngf nliaadlsta kgdvicyygn
      181 rgepdpivlt pgtyglsnal letpwrklcf gkqlfleave rsqalpkdvl iaslldvlnn
      241 eea
//
LOCUS       XP_011512246             127 aa            linear   PRI 20-MAR-2023
DEFINITION  activated RNA polymerase II transcriptional coactivator p15 isoform
            X1 [Homo sapiens].
ACCESSION   XP_011512246
VERSION     XP_011512246.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011513944.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..127
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..127
                     /product="activated RNA polymerase II transcriptional
                     coactivator p15 isoform X1"
                     /calculated_mol_wt=14264
     Region          64..115
                     /region_name="PC4"
                     /note="Transcriptional Coactivator p15 (PC4); pfam02229"
                     /db_xref="CDD:426669"
     CDS             1..127
                     /gene="SUB1"
                     /gene_synonym="p14; P15; PC4"
                     /coded_by="XM_011513944.4:427..810"
                     /db_xref="GeneID:10923"
                     /db_xref="HGNC:HGNC:19985"
                     /db_xref="MIM:600503"
ORIGIN      
        1 mpkskelvss sssgsdsdse vdkklkrkkq vapekpvkkq ktgetsrals sskqssssrd
       61 dnmfqigkmr yvsvrdfkgk vlidireywm dpegemkpgr kgislnpeqw sqlkeqisdi
      121 ddavrkl
//
LOCUS       XP_024310151             679 aa            linear   PRI 20-MAR-2023
DEFINITION  RING finger protein 145 isoform X1 [Homo sapiens].
ACCESSION   XP_024310151
VERSION     XP_024310151.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024454383.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..679
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..679
                     /product="RING finger protein 145 isoform X1"
                     /calculated_mol_wt=77405
     Region          24..522
                     /region_name="TRC8_N"
                     /note="TRC8 N-terminal domain; pfam13705"
                     /db_xref="CDD:433417"
     Region          <536..>641
                     /region_name="HRD1"
                     /note="HRD ubiquitin ligase complex, ER membrane component
                     [Posttranslational modification, protein turnover,
                     chaperones]; COG5243"
                     /db_xref="CDD:227568"
     Region          549..591
                     /region_name="RING-H2_RNF145"
                     /note="RING finger, H2 subclass, found in RING finger
                     protein 145 (RNF145) and similar proteins; cd16684"
                     /db_xref="CDD:319598"
     CDS             1..679
                     /gene="RNF145"
                     /coded_by="XM_024454383.2:178..2217"
                     /db_xref="GeneID:153830"
                     /db_xref="HGNC:HGNC:20853"
ORIGIN      
        1 maevfskkkk kkkknnmaak ekleavlnva lrvpsimlld vlyrwdvssf fqqiqrssls
       61 nnplfqykyl alnmhyvgyi lsvvlltlpr qhlvqlylyf ltalllyagh qisrdyvrse
      121 lefayegpmy leplsmnrft taligqlvvc tlcscvmktk qiwlfsahml pllarlclvp
      181 letiviinkf amiftglevl yflgsnllvp ynlaksayre lvqvvevygl lalgmslwnq
      241 lvvpvlfmvf wlvlfalqiy syfstrdqpa srerllflfl tsiaeccstp ysllglvftv
      301 sfvalgvltl ckfylqgyra fmndpamnrg mtegvtllil avqtglielq vvhrafllsi
      361 ilfivvasil qsmleiadpi vlalgasrdk slwkhfravs lclfllvfpa ymaymicqff
      421 hmdfwlliii sssiltslqv lgtlfiyvlf mveefrkepv enmddviyyv ngtyrllefl
      481 valcvvaygv setifgewtv mgsmiifihs yynvwlraql gwksfllrrd avnkikslpi
      541 atkeqlekhn dicaicyqdm ksavitpcsh ffhagclkkw lyvqetcplc hchlknssql
      601 pglgtepvlq phagaeqnvm fqegteppgq ehtpgtriqe gsrdnneyia rrpdnqegaf
      661 dpkeyphsak deahpvesa
//
LOCUS       XP_047273354              84 aa            linear   PRI 20-MAR-2023
DEFINITION  CDC42 small effector protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047273354
VERSION     XP_047273354.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417398.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..84
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..84
                     /product="CDC42 small effector protein 2 isoform X1"
                     /calculated_mol_wt=9092
     Region          27..67
                     /region_name="CRIB"
                     /note="PAK (p21 activated kinase) Binding Domain (PBD),
                     binds Cdc42p- and/or Rho-like small GTPases; also known as
                     the Cdc42/Rac interactive binding (CRIB) motif; has been
                     shown to inhibit transcriptional activation and cell
                     transformation mediated by the...; cd00132"
                     /db_xref="CDD:238077"
     Site            order(29,32,35,37,40,56,60)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238077"
     CDS             1..84
                     /gene="CDC42SE2"
                     /gene_synonym="SPEC2"
                     /coded_by="XM_047417398.1:548..802"
                     /db_xref="GeneID:56990"
                     /db_xref="HGNC:HGNC:18547"
                     /db_xref="MIM:619457"
ORIGIN      
        1 msefwlcfnc ciaeqpqpkr rrridrsmig eptnfvhtah vgsgdlfsgm nsvssiqnqm
       61 qskggygggm panvqmqlvd tkag
//
LOCUS       XP_047278556            1971 aa            linear   PRI 20-MAR-2023
DEFINITION  protein unc-13 homolog B isoform X1 [Homo sapiens].
ACCESSION   XP_047278556
VERSION     XP_047278556.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422600.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1971
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1971
                     /product="protein unc-13 homolog B isoform X1"
                     /calculated_mol_wt=220183
     Region          839..920
                     /region_name="C1_Munc13-2-like"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in Munc13-2, Munc13-3 and similar proteins; cd20859"
                     /db_xref="CDD:410409"
     Site            order(863..869,877..881,884)
                     /site_type="other"
                     /note="putative DAG/PE binding site [chemical binding]"
                     /db_xref="CDD:410409"
     Region          980..1106
                     /region_name="C2B_Munc13"
                     /note="C2 domain second repeat in Munc13 (mammalian
                     uncoordinated) proteins; cd04027"
                     /db_xref="CDD:175993"
     Site            order(996,1002,1048,1050,1067)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:175993"
     Region          1298..1785
                     /region_name="DUF1041"
                     /note="Domain of Unknown Function (DUF1041); pfam06292"
                     /db_xref="CDD:428871"
     Region          1819..1938
                     /region_name="C2C_Munc13"
                     /note="C2 domain third repeat in Munc13 (mammalian
                     uncoordinated) proteins; cd08395"
                     /db_xref="CDD:176041"
     CDS             1..1971
                     /gene="UNC13B"
                     /gene_synonym="MUNC13; munc13-2; UNC13; Unc13h2"
                     /coded_by="XM_047422600.1:86..6001"
                     /db_xref="GeneID:10497"
                     /db_xref="HGNC:HGNC:12566"
                     /db_xref="MIM:605836"
ORIGIN      
        1 mkrllqesee eimvtlgpss rlspdkakae tmcgtkskss gpagslpedn slppccgsaa
       61 laiggdrdgd laqlcsfgqq nnsqlplgst ayvsgsgsqd pssvsittsc qepsernqtk
      121 tllsrghgqg csreqreplg dvveyiirel qgisrlqtei aelqqhlsqv qgsvdevssc
      181 vdsvlseieg lqvstcslak vcegekaqep hvdrpseeai lylyglpeqd gentmelves
      241 flakhlcvng mqcnryikka yragtspspr ptvvklahle hrdfilqksi llqnvgvria
      301 treepscpqg nknpqkesis ffqqqhqdys qtslnqdepv lqmetgdrgp itgtyqmkaq
      361 dqqrehqape qqgpcfllkn nlskesdvpk lgdeikgasr tsqvisgscd elsekkasls
      421 tphqfeepal vliskeeasg ksqffkqysq kheackvgkp endchdksea ssclslsgll
      481 kterinaedk llgceagldi lsskeledll adksrrlaal scdsmmeeii igpetfsdmv
      541 hidlneeeec aahvlkdvfd ksscvlggsq ededveikfy tsklgraihh frsalqgvfq
      601 klensgsisp edlesnesgs qsensdrllg tvssggaqdc slespgsqgs esllsvvsgg
      661 vgvstqgeqt pqdpstfsla snnslpsval apclgsetcs rpgspkqgrl sleqvctetv
      721 ylnkcinnfk nvlrekrlrq kkllhelvqk anrlsvedih seekrgalqi pddgdpslpq
      781 wlpegpaggl ygidsmpdlr rkkplplvsd lslvqsrkag itsamatrts lkdeelkshv
      841 ykktlqaliy piscttphnf evwtattpty cyecegllwg iarqgmrcse cgvkchekcq
      901 dllnadclqr aaeksckhga edrtqniima mkdrmkirer nkpeifevir dvftvnkaah
      961 vqqmktvkqs vldgtskwsa kititvvcaq glqakdktgs sdpyvtvqvs ktkkrtktif
     1021 gnlnpvweek fhfechnssd rikvrvwded ddiksrvkqr lkresddflg qtiievrtls
     1081 gemdvwynle krtdksavsg airlqisvei kgeekvapyh vqytclhenl fhyltdiqgs
     1141 ggvripearg ddawkvyfde taqeivdefa mrygiesiyq amthfaclss kymcpgvpav
     1201 mstllanina yyahttastn vsasdrfaas nfgkerfvkl ldqlhnslri dlstyrnnfp
     1261 agsperlqdl kstvdlltsi tffrmkvqel qspprasqvv kdcvkaclns tyeyifnnch
     1321 dlysrqyqlk qelppeeqgp sirnldfwpk litlivsiie edknsytpvl nqfpqelnvg
     1381 kvsaevmwhl faqdmkyale ehekdhlcks adymnlhfkv kwlhneyvrd lpvlqgqvpe
     1441 ypawfeqfvl qwldenedvs leflrgaler dkkdgfqqts ehalfscsvv dvftqlnqsf
     1501 eiirklecpd psilahymrr faktigkvlm qyadilskdf payctkeklp cilmnnvqql
     1561 rvqlekmfea mggkeldlea adslkelqvk lntvldelsm vfgnsfqvri decvrqmadi
     1621 lgqvrgtgna spdarasaaq dadsvlrplm dfldgnltlf atvcektvlk rvlkelwrvv
     1681 mntmermivl ppltdqtgtq liftaakels hlsklkdhmv reetrnltpk qcavldlald
     1741 tikqyfhagg nglkktflek spdlqslrya lslytqttdt liktfvrsqt tqgsgvddpv
     1801 gevsiqvdlf thpgtgehkv tvkvvaandl kwqtagmfrp fvevtmvgph qsdkkrkftt
     1861 ksksnnwapk ynetfhfllg neegpesyel qicvkdycfa redrvlglav mplrdvtakg
     1921 scacwcplgr kihmdetglt ilrilsqrsn devarefvkl ksesrsteeg s
//
LOCUS       XP_054220833              96 aa            linear   PRI 20-MAR-2023
DEFINITION  cAMP-responsive element modulator isoform X17 [Homo sapiens].
ACCESSION   XP_054220833
VERSION     XP_054220833.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364858.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..96
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..96
                     /product="cAMP-responsive element modulator isoform X17"
                     /calculated_mol_wt=10838
     CDS             1..96
                     /gene="CREM"
                     /gene_synonym="CREM-2; hCREM-2; ICER"
                     /coded_by="XM_054364858.1:48..338"
                     /db_xref="GeneID:1390"
                     /db_xref="HGNC:HGNC:2352"
                     /db_xref="MIM:123812"
ORIGIN      
        1 mptyqirapt aalpqgvvma aspgslhspq qlaeeatrkr elrlmknrea akecrrrkke
       61 yvkclesrva vlevqnkkli eeletlkdic spktdy
//
LOCUS       XP_054226329             418 aa            linear   PRI 20-MAR-2023
DEFINITION  serpin H1 isoform X1 [Homo sapiens].
ACCESSION   XP_054226329
VERSION     XP_054226329.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370354.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..418
                     /product="serpin H1 isoform X1"
                     /calculated_mol_wt=46310
     CDS             1..418
                     /gene="SERPINH1"
                     /gene_synonym="AsTP3; CBP1; CBP2; gp46; HSP47; OI10;
                     PIG14; PPROM; RA-A47; SERPINH2"
                     /coded_by="XM_054370354.1:509..1765"
                     /db_xref="GeneID:871"
                     /db_xref="HGNC:HGNC:1546"
                     /db_xref="MIM:600943"
ORIGIN      
        1 mrsllllsaf clleaalaae vkkpaaaaap gtaeklspka atlaersagl afslyqamak
       61 dqavenilvs pvvvasslgl vslggkatta sqakavlsae qlrdeevhag lgellrslsn
      121 starnvtwkl gsrlygpssv sfaddfvrss kqhyncehsk infrdkrsal qsinewaaqt
      181 tdgklpevtk dvertdgall vnamffkphw dekfhhkmvd nrgfmvtrsy tvgvmmmhrt
      241 glynyyddek eklqivempl ahklssliil mphhvepler leklltkeql kiwmgkmqkk
      301 avaislpkgv vevthdlqkh laglglteai dknkadlsrm sgkkdlylas vfhatafeld
      361 tdgnpfdqdi ygreelrspk lfyadhpfif lvrdtqsgsl lfigrlvrpk gdkmrdel
//
LOCUS       XP_054230855             629 aa            linear   PRI 20-MAR-2023
DEFINITION  high affinity cationic amino acid transporter 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054230855
VERSION     XP_054230855.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374880.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..629
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..629
                     /product="high affinity cationic amino acid transporter 1
                     isoform X1"
                     /calculated_mol_wt=67508
     CDS             1..629
                     /gene="SLC7A1"
                     /gene_synonym="ATRC1; CAT-1; ERR; HCAT1; REC1L"
                     /coded_by="XM_054374880.1:1085..2974"
                     /db_xref="GeneID:6541"
                     /db_xref="HGNC:HGNC:11057"
                     /db_xref="MIM:104615"
ORIGIN      
        1 mgckvllnig qqmlrrkvvd csreetrlsr clntfdlval gvgstlgagv yvlagavare
       61 nagpaivisf liaalasvla glcygefgar vpktgsayly syvtvgelwa fitgwnlils
      121 yiigtssvar awsatfdeli grpigefsrt hmtlnapgvl aenpdifavi iililtgllt
      181 lgvkesamvn kiftcinvlv lgfimvsgfv kgsvknwqlt eedfgntsgr lclnndtkeg
      241 kpgvggfmpf gfsgvlsgaa tcfyafvgfd ciattgeevk npqkaipvgi vasllicfia
      301 yfgvsaaltl mmpyfcldnn splpdafkhv gwegakyava vgslcalsas llgsmfpmpr
      361 viyamaedgl lfkflanvnd rtktpiiatl asgavaavma flfdlkdlvd lmsigtllay
      421 slvaacvlvl ryqpeqpnlv yqmastsdel dpadqnelas tndsqlgflp eaemfslkti
      481 lspknmepsk isglivnist sliavliitf civtvlgrea ltkgalwavf llagsallca
      541 vvtgviwrqp esktklsfkv pflpvlpils ifvnvylmmq ldqgtwvrfa vwmligfiiy
      601 fgyglwhsee asldadqart pdgnldqck
//
LOCUS       XP_054231946            1211 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 6 isoform X8 [Homo sapiens].
ACCESSION   XP_054231946
VERSION     XP_054231946.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375971.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1211
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1211
                     /product="tetratricopeptide repeat protein 6 isoform X8"
                     /calculated_mol_wt=140216
     CDS             1..1211
                     /gene="TTC6"
                     /gene_synonym="C14orf25; NCRNA00291"
                     /coded_by="XM_054375971.1:315..3950"
                     /db_xref="GeneID:319089"
                     /db_xref="HGNC:HGNC:19739"
ORIGIN      
        1 mqssikevmf qkakelkrql qltkqnktee pnyvkesidd ifdnmcekhs lrnlsltlie
       61 askkagisyi vypkkkkmrw kkrlkqqkli fvheelskpp kslersashg ilpgqkkylf
      121 kvplyerqir cpslplylnf ekfvqakggi penidprtwa ldrlieykda sipvkekddk
      181 isvpedpper vkeppklkln dyvesdlpqe vikyyesevk ilteeindkt kypafaycrr
      241 gaiyrklgkl qsamndlqrv illeplflna ywhrhliylf qdkinealdd lnyihkynkn
      301 nteaylskae iyrgkkditl ailnytqaik stptdadiyf rrgemyeitn kvlaiddfsk
      361 cifydpkrtd allkrglfyc enenwfaaie dftallnidh qnsqartyrg iayvkwkfyk
      421 eatqdfsaai hldpnnwlal yyrgclfrks npfralqdys vsalindgye nlgcflhrgi
      481 vyahlklwll aicdfetvis lertitlayv niglihllhl dnyteaiwqf seairidplc
      541 iqsylcraet yfklhklkka vnelsraihl qpdgiqlyir rgqyllmmky ydlakftiyq
      601 iaemdkglse lspmqqaliy sfcenhdkai evldgiswnr aemtmcalla kvqmkakrtk
      661 eavevlkkal daishsdkgp dataisadcl ynlglcymee gnlqmafdsf tkavkanpdf
      721 aesfyqrglc kvklhkdssi ldfnraitln pkhyqemhtg glgaylsrva fyglkgrysk
      781 ailncnkaik iypesvrayl yrgvlkyynk tyklaitdlt taismdknsy tafynralcy
      841 tkirelqmal tdygivllld atetvklntf lnrgliyvel gqygfaledf kqaalisrtn
      901 gslchatamc hhrinefeea vnfftwalki npcfldayvg rgnsymeygh deatkqaqkd
      961 flkalhinpa yikarisfgy nlqaqgkfqk awnhftiaid tdpknylaye gravvclqmg
     1021 nnfaamqdin aamkisttae fltnrgvihe fmghkqnamk dyqdaitlnp kyslayfnag
     1081 niyfhhrqfs qasdyfskal kfdpeneyvl mnraitntil kkyeeakedf anviescpfw
     1141 aavyfnrahf yyclkqyela eedlnkalsl kpndalvynf rakvrgkigl ieeamadynq
     1201 aldledyasv i
//
LOCUS       XP_054234393             995 aa            linear   PRI 20-MAR-2023
DEFINITION  multiple C2 and transmembrane domain-containing protein 2 isoform
            X6 [Homo sapiens].
ACCESSION   XP_054234393
VERSION     XP_054234393.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378418.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..995
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..995
                     /product="multiple C2 and transmembrane domain-containing
                     protein 2 isoform X6"
                     /calculated_mol_wt=112479
     CDS             1..995
                     /gene="MCTP2"
                     /coded_by="XM_054378418.1:15..3002"
                     /db_xref="GeneID:55784"
                     /db_xref="HGNC:HGNC:25636"
                     /db_xref="MIM:616297"
ORIGIN      
        1 mnllgtyrse enpseyqrrq liktlrvckp sssyfltsdf ldtpsfscep tqtnelqvia
       61 fstpsqcpap siappcntrp ssrrqrgrlg rrllkgviav fsrgvllrsg flglhaamdl
      121 dkpsvwgslk qrtrpllinl skkkvkknps kppdlrarhh ldrrlslsvp dlleaealap
      181 egrpysgpqs sytsvpssls tagifpksss sslkqseeel dwsqeeashl hvvetdseea
      241 yaspaerrrv ssngifdlqk tslggdapee peklcgssdl nasmtsqhfe eqsvpgeasd
      301 glsnlpspfa ylltihlkeg rnlvvrdrcg tsdpyvkfkl ngktlykskv iyknlnpvwd
      361 eivvlpiqsl dqklrvkvyd rdlttsdfmg safvilsdle lnrttehilk ledpnsledd
      421 mgvivlnlnl vvkqgdfkrh rwsnrkrlsa sksslirnlr lseslkknql wngiisitll
      481 egknvsggsm temfvqlklg dqryksktlc ksanpqwqeq fdfhyfsdrm gildievwgk
      541 dnkkheerlg tckvdisalp lkqanclelp ldsclgallm lvtltpcagv svsdlcvcpl
      601 adlserkqit qryclqnslk dvkdvgilqv kvlkaadlla adfsgksdpf cllelgndrl
      661 qthtvyknln pewnkvftfp ikdihdvlev tvfdedgdkp pdflgkvaip llsirdgqpn
      721 cyvlknkdle qafkgviyle mdliynpvka sirtftprek rfvedsrkls kkilsrdvdr
      781 vkritmaiwn tmqflkscfq westlrstia favflitvwn felymiplal llifvynfir
      841 pvkgkvssiq dsqestdidd eededdkese kkglieriym vqdivstvqn vleeiasfge
      901 rikntfnwtv pflsslacli laaatiilyf iplryiiliw ginkftkklr npysidnnel
      961 ldflsrvpsd vqkvqyaelk lcsshsplrk krsal
//
LOCUS       XP_054170637             549 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 3D isoform X3 [Homo sapiens].
ACCESSION   XP_054170637
VERSION     XP_054170637.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314662.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..549
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..549
                     /product="TBC1 domain family member 3D isoform X3"
                     /calculated_mol_wt=62056
     CDS             1..549
                     /gene="TBC1D3D"
                     /gene_synonym="PRC17; TBC1D3; TBC1D3A; TBC1D3H"
                     /coded_by="XM_054314662.1:3240..4889"
                     /db_xref="GeneID:101060389"
                     /db_xref="HGNC:HGNC:28944"
                     /db_xref="MIM:610807"
ORIGIN      
        1 mdvvevagsw waqerediim kyekghragl pedkgpkpfr synnnvdhlg ivhetelppl
       61 tareakqirr eisrkskwvd mlgdwekyks srklidrayk gmpmnirgpm wsvllnteem
      121 klknpgryqi mkekgkrsse hiqridrdvs gtlrkhiffr drygtkqrel lhillayeey
      181 npevgycrdl shiaalflly lpeedafwal vqllaserhs lqgfhspngg tvqglqdqqe
      241 hvvatsqpkt mghqdkkdlc gqcsplgcli rilidgislg ltlrlwdvyl vegeqalmpi
      301 triafkvqqk rltktsrcgp warfcnrfvd twardedtvl khlrasmkkl trkqgdlppp
      361 akpeqgssas rpvpasrggk tlckgdrqap pgpparfprp iwsaspprap rsstpcpgga
      421 vredtypvgt qgvpspalaq ggpqgswrfl qwnsmprlpt dldvegpwfr hydfrqscwv
      481 raisqedqla pcwqaehpae rvrsafaaps tdsdqgtpfr ardeqqcapt sgpclcglhl
      541 essqfppgf
//
LOCUS       XP_054172346             326 aa            linear   PRI 20-MAR-2023
DEFINITION  archaemetzincin-2 isoform X2 [Homo sapiens].
ACCESSION   XP_054172346
VERSION     XP_054172346.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316371.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..326
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..326
                     /product="archaemetzincin-2 isoform X2"
                     /calculated_mol_wt=36878
     CDS             1..326
                     /gene="AMZ2"
                     /coded_by="XM_054316371.1:115..1095"
                     /db_xref="GeneID:51321"
                     /db_xref="HGNC:HGNC:28041"
                     /db_xref="MIM:615169"
ORIGIN      
        1 mkpssqpvis ldplpcilhq igspptlrlp ktlnsssvil terhplqtna afiysplvnt
       61 gslgntriis eeyikwltgy ckayfyglrv kllepvpvsv trcsfrvnen thnlqihagd
      121 ilkflkkkkp edafcvvgit midlyprdsw nfvfgqaslt dgvgifsfar ygsdfysmhy
      181 kgkvkklkkt sssdysifdn yyipeitsvl llrscktlth eighifglrh cqwlaclmqg
      241 snhleeadrr plnlcpiclh klqcavgfsi verykalvrw iddessdtpg atpehshedn
      301 gnlpkpveaf kewkewiikc lavlqk
//
LOCUS       XP_054196765             158 aa            linear   PRI 20-MAR-2023
DEFINITION  fumarylacetoacetate hydrolase domain-containing protein 2B isoform
            X7 [Homo sapiens].
ACCESSION   XP_054196765
VERSION     XP_054196765.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340790.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..158
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..158
                     /product="fumarylacetoacetate hydrolase domain-containing
                     protein 2B isoform X7"
                     /calculated_mol_wt=17333
     CDS             1..158
                     /gene="FAHD2B"
                     /coded_by="XM_054340790.1:189..665"
                     /db_xref="GeneID:151313"
                     /db_xref="HGNC:HGNC:25318"
ORIGIN      
        1 mlvsgrrrll tallqaqkwp fqpsrdmrlv qfraphlvgp hlgletgngg gvinlnafdp
       61 tlpktmtqfl eqgeatlsva rralaaqlpv lpwsevtfla pvtwpdkvvc vgmnyvdhck
      121 eqnvpvpkep iifskfassi vgpydevvlp pqsqihtt
//
LOCUS       XP_054197746             908 aa            linear   PRI 20-MAR-2023
DEFINITION  flap endonuclease GEN homolog 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054197746
VERSION     XP_054197746.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341771.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..908
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..908
                     /product="flap endonuclease GEN homolog 1 isoform X1"
                     /calculated_mol_wt=102781
     CDS             1..908
                     /gene="GEN1"
                     /gene_synonym="Gen"
                     /coded_by="XM_054341771.1:241..2967"
                     /db_xref="GeneID:348654"
                     /db_xref="HGNC:HGNC:26881"
                     /db_xref="MIM:612449"
ORIGIN      
        1 mgvndlwqil epvkqhiplr nlggktiavd lslwvceaqt vkkmmgsvmk phlrnlffri
       61 syltqmdvkl vfvmegeppk lkadviskrn qsrygssgks wsqktgrshf ksvlreclhm
      121 leclgipwvq aageaeamca ylnagghvdg cltndgdtfl ygaqtvyrnf tmntkdphvd
      181 cytmssiksk lgldrdalvg laillgcdyl pkgvpgvgke qalkliqilk gqsllqrfnr
      241 wnetscnssp qllvtkklah csvcshpgsp kdherngcrl cksdkyceph dyeyccpcew
      301 hrtehdrqln evennikkka cccegfpfhe viqefllnkd klvkviryqr pdlllfqrft
      361 lekmewpnhy acekllvllt hydmierklg srnsnqlqpi rivktrirng vhcfeiewek
      421 pehyamedkq hgefalltie eeslfeaayp eivavyqkqk leikgkkqkr ikpkennlpe
      481 pdevmsfqsh mtlkptceif hkqnsklnsg ispdptlpqe sisaslnsll lpkntpclna
      541 qeqfmsslrp laiqqikavs kslisessqp ntsshnisvi adlhlstidw egtsfsnspa
      601 iqrntfshdl kseveselsa ipdgfenipe qlsceseryt anikkvlded sdgispeehl
      661 lsgitdlclq dlplkerift klsypqdnlq pdvnlktlsi lsvkescian sgsdctshls
      721 kdlpgiplqn esrdskilkg dqllqedykv ntsvpysvsn tvvktcnvrp pntaldhsrk
      781 vdmqttrkil mkksvcldrh ssdeqsapvf gkakyttqrm khssqkhnss hfkesghnkl
      841 sspkihiket eqcvrsyeta eneescfpds tksslsslqc hkkennsgtc ldsplplrqr
      901 lklrfqst
//
LOCUS       XP_054200443            1386 aa            linear   PRI 20-MAR-2023
DEFINITION  putative ATP-dependent RNA helicase DHX57 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054200443
VERSION     XP_054200443.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344468.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1386
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1386
                     /product="putative ATP-dependent RNA helicase DHX57
                     isoform X1"
                     /calculated_mol_wt=155474
     CDS             1..1386
                     /gene="DHX57"
                     /gene_synonym="DDX57"
                     /coded_by="XM_054344468.1:206..4366"
                     /db_xref="GeneID:90957"
                     /db_xref="HGNC:HGNC:20086"
ORIGIN      
        1 msssvrrkgk pgkgggkgss rggrggrsha skshgsgggg gggggggggn rkassriwdd
       61 gddfcifses rrpsrpsnsn iskgesrpkw kpkakvplqt lhmtsenqek vkallrdlqe
      121 qdadagserg lsgeeeddep dccnderywp agqepslvpd ldpleyagla svepyvpeft
      181 vspfavqkls rygfntercq avlrmcdgdv gaslehlltq cfsetfgerm kiseavnqis
      241 ldecmeqrqe eafalksicg ekfieriqnr vwtigleley ltsrfrkskp kestknvqen
      301 sleickfylk gnckfgskcr fkhevppnqi vgriersvdd shlnaiedas flyeleirfs
      361 kdhkypyqap lvafystnen lplacrlhis eflydkaltf aetsepvvys litlleeese
      421 ivklltnthh kysdppvnfl pvpsrtrinn pachktvipn nsfvsnqipe vekasesees
      481 deddgpapvi venesyvnlk kkiskrydwq aksvhaengk ickqfrmkqa srqfqsilqe
      541 rqslpaweer etilnllrkh qvvvisgmtg cgkttqipqf ilddslngpp ekvaniictq
      601 prrisaisva ervakeraer vgltvgyqir lesvkssatr llycttgvll rrlegdtalq
      661 gvshiivdev herteesdfl llvlkdivsq rpglqvilms atlnaelfsd yfnscpviti
      721 pgrtfpvdqf fledaiavtr yvlqdgspym rsmkqiskek lkarrnrtaf eeveedlrls
      781 lhlqdqdsvk davpdqqldf kqllarykgv sksviktmsi mdfekvnlel ieallewivd
      841 gkhsyppgai lvflpglaei kmlyeqlqsn slfnnrrsnr cvihplhssl sseeqqavfv
      901 kppagvtkii istniaetsi tiddvvyvid sgkmkekryd askgmesled tfvsqanalq
      961 rkgragrvas gvcfhlftsh hynhqllkqq lpeiqrvple qlclrikile mfsahnlqsv
     1021 fsrlieppht dslraskirl rdlgaltpde rltplgyhla slpvdvrigk lmlfgsifrc
     1081 ldpaltiaas lafkspfvsp wdkkeeanqk klefafansd ylallqaykg wqlstkegvr
     1141 asynycrqnf lsgrvlqema slkrqftell sdigfaregl rareiekraq ggdgvldatg
     1201 eeansnaenp klisamlcaa lypnvvqvks pegkfqktst gavrmqpksa elkfvtkndg
     1261 yvhihpssvn yqvrhfdspy llyhekikts rvfirdcsmv svyplvlfgg gqvnvqlqrg
     1321 efvvslddgw irfvaashqv aelvkelrce ldqllqdkik npsidlctcp rgsriistiv
     1381 klvttq
//
LOCUS       XP_054179241            1999 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor coactivator 6 isoform X20 [Homo sapiens].
ACCESSION   XP_054179241
VERSION     XP_054179241.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323266.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1999
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1999
                     /product="nuclear receptor coactivator 6 isoform X20"
                     /calculated_mol_wt=212530
     CDS             1..1999
                     /gene="NCOA6"
                     /gene_synonym="AIB3; ASC2; NRC; PRIP; RAP250; TRBP"
                     /coded_by="XM_054323266.1:344..6343"
                     /db_xref="GeneID:23054"
                     /db_xref="HGNC:HGNC:15936"
                     /db_xref="MIM:605299"
ORIGIN      
        1 mvlddlpnle diytslcsst medsemdfds gledddtksd siledstifv afkgniddkd
       61 fkwkldailk nvpnllhmes sklkvqkvep wnsvrvtfni preaaerlri laqsnnqqlr
      121 dlgilsvqie gegainlala qnrsqdvrmn gpmgagnsvr meagfpmasg pgifflgiir
      181 mnnpatvmip pggnvsssmm apgpnpelqp rtprpasqsd amdpllsglh iqqqshpsgs
      241 lapphhpmqp vsvnrqmnpa nfpqlqqqqq qqqqqqqqqq qqqqqqqqqq lqarppqqhq
      301 qqqpqgirpq ftaptqvpvp pgwnqlpsga lqpppaqgsl gtmtanqgwk kaplpgpmqq
      361 qlqarpslat vqtpshpppp ypfgsqqasq ahtnfpqmsn pgqftapqmk slqggpsrvp
      421 tplqqphltn kspasspssf qqgspasspt vnqtqqqmgp rppqnnplpq gfqqpvsspg
      481 rnpmvqqgnv ppnfmvmqqq ppnqgpqslh pglgekseps nlavawpqit freqiaifsl
      541 acsksgqanp nfmqgqvpst tattpgnsga pqlqanqnvq haggqgagpp qnqmqvshgp
      601 pnmmqpslmg ihgnmnnqqa gtsgvpqvnl snmqgqpqqg ppsqlmgmhq qivpsqgqmv
      661 qqqgtlnpqn pmilsraqlm pqgqmmvnpp sqnlgpspqr mtppkqmlsq qgpqmmaphn
      721 qmmgpqgqvl lqqnpmieqi mtnqmqgnkq qfntqnqsnv mpgpaqimrg ptpnmqgnmv
      781 qftgqmsgqm lpqqgpvnns psqvmgiqgq vlrppgpsph maqqhgdpat tanndvslsq
      841 mmpdvsiqqt nmvpphvqam qgnsasgnhf sghgmsfnap fsgapngnqm scgqnpgfpv
      901 nkdvtltspl lvnllqsdis aghfgvnnkq nntnankpkk kkpprkkkns qqdlntpdtr
      961 pagleeadqp plpgeqginl dnsgpklpef snrppgypsq pveqrplqqm ppqlmqhvap
     1021 ppqppqqqpq pqlpqqqqpp ppsqpqsqqq qqqqqqmmmm lmmqqdpksv rlpvsqnvhp
     1081 prgplnpdsq rmpmqqsgsv pvmvslqgpa svppspdkqr mpmpvntplg snsrkmvyqe
     1141 spqnpssspl aemaslpeas gseapsvpgg pnnmpshvvl pqnqlmmtgp kpgpsplsat
     1201 qgatpqqppv nslpsshghh fpnvaaptqt srpktpnras prpyypqtpn nrppstepse
     1261 islsperlna siaglfppqi niplpprpnl nrgfdqqgln pttlkaigqa psnltmnpsn
     1321 fatpqthkld svvvnsgkqs nsgatkrasp snsrrsspgs srkttpspgr qnskapkltl
     1381 asqtnaallq nvelprnvlv sptplanppv pgsfpnnsgl npqnstvsva avggvvednk
     1441 eslnvpqdsd cqnsqsrkeq vnielkavpa qevkmvvped qskkdgqpsd pnklpsveen
     1501 knlvspamre aptslsqlld nsgapnvtik ppgltdlevt ppvvsgedlk kasviptlqd
     1561 lssskepsns lnlphsnelc sslvhpelse vssnvapsip pvmsrpvsss sistplppnq
     1621 itvfvtsnpi ttsantsaal pthlqsalms tvvtmpnags kvmvsegqsa aqsnarpqfi
     1681 tpvfinsssi iqvmkgsqps tipaaplttn sglmppsvav vgplhipqni kfssapvppn
     1741 alssspapni qtgrplvlss ratpvqlpsp pctsspvvps hppvqqvkel npdeaspqvn
     1801 tsadqntlps sqsttmvspl ltnspgssgn rrspvssskg kgkvdkigqi lltkackkvt
     1861 gslekgeeqy gadgetegqg ldttapglmg teqlstelds ktptppaptl lkmtsspvgp
     1921 gtasagpslp ggalptsvrs ivttlvpsel isavpttksn hggiasesla gglveekvgs
     1981 hpellpsiak mlrvpttew
//
LOCUS       XP_054209581             220 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin-like-conjugating enzyme ATG10 isoform X1 [Homo sapiens].
ACCESSION   XP_054209581
VERSION     XP_054209581.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353606.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..220
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..220
                     /product="ubiquitin-like-conjugating enzyme ATG10 isoform
                     X1"
                     /calculated_mol_wt=25148
     CDS             1..220
                     /gene="ATG10"
                     /gene_synonym="APG10; APG10L; pp12616"
                     /coded_by="XM_054353606.1:1601..2263"
                     /db_xref="GeneID:83734"
                     /db_xref="HGNC:HGNC:20315"
                     /db_xref="MIM:610800"
ORIGIN      
        1 meedefigek tfqrycaefi khsqqigdsw ewrpskdcsd gymckihfqi kngsvmshlg
       61 asthgqtclp meeafelpld dcevietaaa sevikyeyhv lyscsyqvpv lyfrasfldg
      121 rpltlkdiwe gvhecykmrl lqgpwdtitq qehpilgqpf fvlhpcktne fmtpvlknsq
      181 kinknvnyit swlsivgpvv glnlplsyak atsqdernvp
//
LOCUS       XP_054217548            1680 aa            linear   PRI 20-MAR-2023
DEFINITION  regulating synaptic membrane exocytosis protein 2 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054217548
VERSION     XP_054217548.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361573.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1680
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1680
                     /product="regulating synaptic membrane exocytosis protein
                     2 isoform X4"
                     /calculated_mol_wt=190395
     CDS             1..1680
                     /gene="RIMS2"
                     /gene_synonym="CRSDS; OBOE; RAB3IP3; RIM2"
                     /coded_by="XM_054361573.1:278..5320"
                     /db_xref="GeneID:9699"
                     /db_xref="HGNC:HGNC:17283"
                     /db_xref="MIM:606630"
ORIGIN      
        1 msapvgprgr lapipaasqp plqpempdls hlteeerkii lavmdrqkke eekeqsvlkv
       61 keehkpqltq wfpfsgitel vnnvlqpqqk qqnekepqtk lhqqfemyke qvkkmgeesq
      121 qqqeqkgdap tcgichktkf adgcghncsy cqtkfcarcg grvslrsnke dkvvmwvcnl
      181 crkqqeiltk sgawfynsgs ntpqqpdqkv lrglrneeap qekkpklheq tqfqgpsgdl
      241 svpaveksrs hgltrqhsik ngsgvkhhia sdiasdrkrs psvsrdqnrr ydqreereey
      301 sqyatsdtam prspsdyadr rsqhepqfye dsdhlsyrds nrrshrhske yivddedves
      361 rdeyerqrre eeyqsryrsd pnlarypvkp qpyeeqmrih aevsrarher rhsdvslana
      421 dledsrisml rmdrpsrqrs iserraamen qrsysmertr eaqgpssyaq rttnhspptp
      481 rrsplpidrp dlrrtdslrk qhhldpssav rktkrekmet mlrndslssd qsesvrpppp
      541 kphkskkggk mrqislssse eelastpeyt scddveiese svsekgdsqk gkrktseqav
      601 lsdsntrser qkemmyfggh sleedlewse pqikdsgvdt cssttlneeh shsdkhpvtw
      661 qpskdgdrli grillnkrlk dgsvprdsga mlglkvvggk mtesgrlcaf itkvkkgsla
      721 dtvghlrpgd evlewngrll qgatfeevyn iileskpepq velvvsrpig dipripdsth
      781 aqlesssssf esqkmdrpsi svtspmspgm lrdvpqflsg qlsiklwfdk vghqlivtil
      841 gakdlpsred grprnpyvki yflpdrsdkn krrtktvkkt lepkwnqtfi yspvhrrefr
      901 ermleitlwd qarvreeese flgeiliele tallddephw yklqthdvss lplphpspym
      961 prrqlhgesp trrlqrskri sdsevsdydc ddgigvvsdy rhdgrdlqss tlsvpeqvms
     1021 snhcspsgsp hrvdvigrtr swspsvpppq srnveqglrg trtmtghynt isrmdrhrvm
     1081 ddhyspdrdr dceaadrqpy hrsrsteqrp llertttrsr sterpdtnlm rsmpslmtgr
     1141 sappspalsr shprtgsvqt spsstpvagr rgrqlpqlpp kgtldrstmd ieernrqmki
     1201 nkykqvagsd prleqdyhsk yrsgwdphrg adnvstkssd sdvsdisavs rtssasrfss
     1261 tsymsvqser pggnkkirpk gieeggkegd kheeivheke evkeerinen ekgkeiaktc
     1321 nkeknresgd eektqdiheq gkekeqwnke dlqrrfsqdd tsvftskmqs rqmgisgknm
     1381 tkstsisgdm cslekndgsq sdtavgtlgt sgkkrrsslg akmvaivgls rksrsasqls
     1441 qteaggkklr stvqrstetg lavemrnwmt rqasrestdg smnsyssegn lifpgvrlas
     1501 dsqfsdfldg lgpaqlvgrq tlatpamgdi qvgmmdkkgq leveiirarg lvvkpgsktl
     1561 papyvkvyll dngvciakkk tkvarktlep lyqqllsfee spqgkvlqii vwgdygrmdh
     1621 ksfmgvaqil ldelelsnmv igwfklfpps slvdptlapl trrasqssle sstgpsysrs
//
LOCUS       XP_054219718             315 aa            linear   PRI 20-MAR-2023
DEFINITION  5,6-dihydroxyindole-2-carboxylic acid oxidase isoform X1 [Homo
            sapiens].
ACCESSION   XP_054219718
VERSION     XP_054219718.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363743.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..315
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..315
                     /product="5,6-dihydroxyindole-2-carboxylic acid oxidase
                     isoform X1"
                     /calculated_mol_wt=36113
     CDS             1..315
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /coded_by="XM_054363743.1:180..1127"
                     /db_xref="GeneID:7306"
                     /db_xref="HGNC:HGNC:12450"
                     /db_xref="MIM:115501"
ORIGIN      
        1 msapkllslg ciffplllfq qaraqfprqc atvealrsgm ccpdlspvsg pgtdrcgsss
       61 grgrceavta dsrphspqyp hdgrddrevw plrffnrtch cngnfsghnc gtcrpgwrga
      121 acdqrvlivr rnlldlskee knhfvraldm akrtthplfv iatrrseeil gpdgntpqfe
      181 nisiynyfvw thyysvkktf lgvgqesfge vdfshegpaf ltwhryhllr lekdmqaprm
      241 gqlgeiqlem wpdqwcnvfl nhrmslsawk lvyltrllfi ptlqtvsetq wkvtvtpres
      301 mtllfevfti wliys
//
LOCUS       NP_001091948             254 aa            linear   PRI 24-MAR-2023
DEFINITION  HLA class I histocompatibility antigen, alpha chain F isoform 3
            precursor [Homo sapiens].
ACCESSION   NP_001091948
VERSION     NP_001091948.1
DBSOURCE    REFSEQ: accession NM_001098478.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 254)
  AUTHORS   Arnaiz-Villena A, Suarez-Trujillo F, Juarez I, Rodriguez-Sainz C,
            Palacio-Gruber J, Vaquero-Yuste C, Molina-Alejandre M,
            Fernandez-Cruz E and Martin-Villa JM.
  TITLE     Evolution and molecular interactions of major histocompatibility
            complex (MHC)-G, -E and -F genes
  JOURNAL   Cell Mol Life Sci 79 (8), 464 (2022)
   PUBMED   35925520
  REMARK    GeneRIF: Evolution and molecular interactions of major
            histocompatibility complex (MHC)-G, -E and -F genes.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 254)
  AUTHORS   Fang W and Xia Y.
  TITLE     LncRNA HLA-F-AS1 attenuates the ovarian cancer development by
            targeting miR-21-3p/PEG3 axis
  JOURNAL   Anticancer Drugs 33 (7), 671-681 (2022)
   PUBMED   35276697
  REMARK    GeneRIF: LncRNA HLA-F-AS1 attenuates the ovarian cancer development
            by targeting miR-21-3p/PEG3 axis.
REFERENCE   3  (residues 1 to 254)
  AUTHORS   Hrbac T, Kopkova A, Siegl F, Vecera M, Ruckova M, Kazda T, Jancalek
            R, Hendrych M, Hermanova M, Vybihal V, Fadrus P, Smrcka M, Sokol F,
            Kubes V, Lipina R, Slaby O, Kren L and Sana J.
  TITLE     HLA-E and HLA-F Are Overexpressed in Glioblastoma and HLA-E
            Increased After Exposure to Ionizing Radiation
  JOURNAL   Cancer Genomics Proteomics 19 (2), 151-162 (2022)
   PUBMED   35181585
  REMARK    GeneRIF: HLA-E and HLA-F Are Overexpressed in Glioblastoma and
            HLA-E Increased After Exposure to Ionizing Radiation.
REFERENCE   4  (residues 1 to 254)
  AUTHORS   Qi A, Ju M, Liu Y, Bi J, Wei Q, He M, Wei M and Zhao L.
  TITLE     Development of a Novel Prognostic Signature Based on Antigen
            Processing and Presentation in Patients with Breast Cancer
  JOURNAL   Pathol Oncol Res 27, 600727 (2021)
   PUBMED   34257557
  REMARK    GeneRIF: Development of a Novel Prognostic Signature Based on
            Antigen Processing and Presentation in Patients with Breast Cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 254)
  AUTHORS   Langkilde CH, Nilsson LL, Jorgensen N, Funck T, Perin TL, Hornstrup
            MB, Host T, Scheike T, Lindhard A and Hviid TVF.
  TITLE     Variation in the HLA-F gene locus with functional impact is
            associated with pregnancy success and time-to-pregnancy after
            fertility treatment
  JOURNAL   Hum Reprod 35 (3), 705-717 (2020)
   PUBMED   32020202
  REMARK    GeneRIF: Variation in the HLA-F gene locus with functional impact
            is associated with pregnancy success and time-to-pregnancy after
            fertility treatment.
            Erratum:[Hum Reprod. 2020 Mar 27;35(3):737-738. PMID: 32199024]
REFERENCE   6  (residues 1 to 254)
  AUTHORS   Howcroft TK, Palmer LA, Brown J, Rellahan B, Kashanchi F, Brady JN
            and Singer DS.
  TITLE     HIV Tat represses transcription through Sp1-like elements in the
            basal promoter
  JOURNAL   Immunity 3 (1), 127-138 (1995)
   PUBMED   7621073
REFERENCE   7  (residues 1 to 254)
  AUTHORS   Howcroft TK, Strebel K, Martin MA and Singer DS.
  TITLE     Repression of MHC class I gene promoter activity by two-exon Tat of
            HIV
  JOURNAL   Science 260 (5112), 1320-1322 (1993)
   PUBMED   8493575
REFERENCE   8  (residues 1 to 254)
  AUTHORS   Gasparini P, Borgato L, Piperno A, Girelli D, Olivieri O, Gottardi
            E, Roetto A, Dianzani I, Fargion S, Schinaia G et al.
  TITLE     Linkage analysis of 6p21 polymorphic markers and the hereditary
            hemochromatosis: localization of the gene centromeric to HLA-F
  JOURNAL   Hum Mol Genet 2 (5), 571-576 (1993)
   PUBMED   8518796
REFERENCE   9  (residues 1 to 254)
  AUTHORS   Geraghty DE, Wei XH, Orr HT and Koller BH.
  TITLE     Human leukocyte antigen F (HLA-F). An expressed HLA gene composed
            of a class I coding sequence linked to a novel transcribed
            repetitive element
  JOURNAL   J Exp Med 171 (1), 1-18 (1990)
   PUBMED   1688605
REFERENCE   10 (residues 1 to 254)
  AUTHORS   Lury D, Epstein H and Holmes N.
  TITLE     The human class I MHC gene HLA-F is expressed in lymphocytes
  JOURNAL   Int Immunol 2 (6), 531-537 (1990)
   PUBMED   1707659
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM798587.1, AY253271.1,
            BC062991.1 and CA436948.1.
            
            Summary: This gene belongs to the HLA class I heavy chain
            paralogues. It encodes a non-classical heavy chain that forms a
            heterodimer with a beta-2 microglobulin light chain, with the heavy
            chain anchored in the membrane. Unlike most other HLA heavy chains,
            this molecule is localized in the endoplasmic reticulum and Golgi
            apparatus, with a small amount present at the cell surface in some
            cell types. It contains a divergent peptide-binding groove, and is
            thought to bind a restricted subset of peptides for immune
            presentation. This gene exhibits few polymorphisms. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. These variants lack a coding exon found in transcripts
            from other HLA paralogues due to an altered splice acceptor site,
            resulting in a shorter cytoplasmic domain. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            coding exon and uses an alternate 3' exon, compared to variant 1.
            The resulting isoform (3) is shorter and has a distinct C-terminus,
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.450280.1,
                                           SRR14243140.3001349.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..254
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     Protein         1..254
                     /product="HLA class I histocompatibility antigen, alpha
                     chain F isoform 3 precursor"
                     /note="HLA class I histocompatibility antigen, alpha chain
                     F; leukocyte antigen F; MHC class I antigen F; HLA F
                     antigen; non-classical MHC class I antigen; nonclassical
                     MHC class I antigen"
                     /calculated_mol_wt=26392
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2214
     mat_peptide     22..254
                     /product="HLA class I histocompatibility antigen, alpha
                     chain F isoform 3"
                     /calculated_mol_wt=26392
     Region          22..200
                     /region_name="MHC_I"
                     /note="Class I Histocompatibility antigen, domains alpha 1
                     and 2; pfam00129"
                     /db_xref="CDD:395078"
     CDS             1..254
                     /gene="HLA-F"
                     /gene_synonym="CDA12; HLA-5.4; HLA-CDA12; HLAF"
                     /coded_by="NM_001098478.2:31..795"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS43439.1"
                     /db_xref="GeneID:3134"
                     /db_xref="HGNC:HGNC:4963"
                     /db_xref="MIM:143110"
ORIGIN      
        1 maprslllll sgalaltdtw agshslryfs tavsrpgrge pryiaveyvd dtqflrfdsd
       61 aaiprmepre pwveqegpqy wewttgyaka naqtdrvalr nllrrynqse agshtlqgmn
      121 gcdmgpdgrl lrgyhqhayd gkdyislned lrswtaadtv aqitqrfyea eeyaeefrty
      181 legeclellr rylengketl qraeqspqpt ipivgivagl vvlgavvtga vvaavmwrkk
      241 ssdrnrgsys qaav
//
LOCUS       NP_001240719              83 aa            linear   PRI 22-JUN-2021
DEFINITION  small integral membrane protein 22 isoform 1 [Homo sapiens].
ACCESSION   NP_001240719 XP_001722243 XP_002343454 XP_002343455 XP_002344988
            XP_002344989 XP_002347626 XP_002347627 XP_940484 XP_950835
VERSION     NP_001240719.1
DBSOURCE    REFSEQ: accession NM_001253790.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 83)
  AUTHORS   Polycarpou-Schwarz M, Gross M, Mestdagh P, Schott J, Grund SE,
            Hildenbrand C, Rom J, Aulmann S, Sinn HP, Vandesompele J and
            Diederichs S.
  TITLE     The cancer-associated microprotein CASIMO1 controls cell
            proliferation and interacts with squalene epoxidase modulating
            lipid droplet formation
  JOURNAL   Oncogene 37 (34), 4750-4768 (2018)
   PUBMED   29765154
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC035868.1 and CK903133.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform (1). Both variants 1 and 3 encode
            the same isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC035868.1, AA675917.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..83
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..83
                     /product="small integral membrane protein 22 isoform 1"
                     /calculated_mol_wt=9118
     Region          6..83
                     /region_name="CASIMO1_SMIM22"
                     /note="small integral membrane protein 22 (SMIM22) of
                     CASIMO1; cd20255"
                     /db_xref="CDD:380777"
     Site            32..52
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (K7EJ46.2)"
     Region          60..83
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (K7EJ46.2)"
     CDS             1..83
                     /gene="SMIM22"
                     /gene_synonym="CASIMO1"
                     /coded_by="NM_001253790.1:521..772"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS59258.1"
                     /db_xref="GeneID:440335"
                     /db_xref="HGNC:HGNC:48329"
ORIGIN      
        1 mavsteelea tvqevlgrlk shqffqstwd tvafivfltf mgtvllllll vvahccccss
       61 pgprresprk erpkgvdnla lep
//
LOCUS       NP_001374258             232 aa            linear   PRI 21-APR-2022
DEFINITION  transmembrane protein 74B isoform 2 [Homo sapiens].
ACCESSION   NP_001374258 XP_011527587
VERSION     NP_001374258.1
DBSOURCE    REFSEQ: accession NM_001387329.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 232)
  AUTHORS   Wu C, Ma MH, Brown KR, Geisler M, Li L, Tzeng E, Jia CY, Jurisica I
            and Li SS.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL031665.19.
            On Sep 30, 2020 this sequence version replaced XP_011527587.1.
            
            Transcript Variant: This variant (4), as well as variant 3, encodes
            isoform 2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853562.20778.1,
                                           SRR18074967.1674587.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..232
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     Protein         1..232
                     /product="transmembrane protein 74B isoform 2"
                     /note="transmembrane protein C20orf46"
                     /calculated_mol_wt=24904
     CDS             1..232
                     /gene="TMEM74B"
                     /gene_synonym="C20orf46"
                     /coded_by="NM_001387329.1:572..1270"
                     /note="isoform 2 is encoded by transcript variant 4"
                     /db_xref="GeneID:55321"
                     /db_xref="HGNC:HGNC:15893"
ORIGIN      
        1 masppglelk tlsngpqapr rsaplgpvap tregvenacf sseehethfq npgntrlgss
       61 psppggvssl prsqrddlsl hseegpalep vsrpvdygfv salvflvsgi llvvtayaip
      121 rearvnpdtv taremerlem yyarlgshld rciiaglgll tvggmllsvl lmvslckgel
      181 yrrrtfvpgk gsrktygsin lrmrqlngdg gqalvenevv qvsetshtlq rs
//
LOCUS       NP_001336908             689 aa            linear   PRI 18-DEC-2022
DEFINITION  ras guanyl-releasing protein 3 isoform 2 [Homo sapiens].
ACCESSION   NP_001336908 XP_016859252
VERSION     NP_001336908.1
DBSOURCE    REFSEQ: accession NM_001349979.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 689)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 689)
  AUTHORS   Zhang Z, Ma M, Hu R, Xu B, Zong L, Wei H and Meng Y.
  TITLE     RasGRP3, a Ras guanyl releasing protein 3 that contributes to
            malignant proliferation and aggressiveness in human esophageal
            squamous cell carcinoma
  JOURNAL   Clin Exp Pharmacol Physiol 45 (7), 720-728 (2018)
   PUBMED   29461644
  REMARK    GeneRIF: RasGRP3, a Ras guanyl releasing protein 3 that contributes
            to malignant proliferation and aggressiveness in human esophageal
            squamous cell carcinoma
REFERENCE   3  (residues 1 to 689)
  AUTHORS   Czikora A, Kedei N, Kalish H and Blumberg PM.
  TITLE     Importance of the REM (Ras exchange) domain for membrane
            interactions by RasGRP3
  JOURNAL   Biochim Biophys Acta Biomembr 1859 (12), 2350-2360 (2017)
   PUBMED   28912101
  REMARK    GeneRIF: The marked differences between RasGRP3 and RasGRP1 in
            membrane interaction necessarily will contribute to their different
            behavior in cells.
REFERENCE   4  (residues 1 to 689)
  AUTHORS   Hu G, Zhou Y, Zhu Y, Zhou L, Ling R, Wu D, Mi L, Wang X, Dai D, Mao
            C and Chen D.
  TITLE     Novel transduction of nutrient stress to Notch pathway by RasGRP3
            promotes malignant aggressiveness in human esophageal squamous cell
            carcinoma
  JOURNAL   Oncol Rep 38 (5), 2975-2984 (2017)
   PUBMED   29048643
  REMARK    GeneRIF: In conclusion, these findings provide a new insight into
            the upregulation of RasGRP3 involved in Notch pathway activation in
            the development of esophageal squamous cell carcinoma , especially
            under nutrient deprivation.
REFERENCE   5  (residues 1 to 689)
  AUTHORS   Qiu W, Xia X, Qiu Z, Guo M and Yang Z.
  TITLE     RasGRP3 controls cell proliferation and migration in papillary
            thyroid cancer by regulating the Akt-MDM2 pathway
  JOURNAL   Gene 633, 35-41 (2017)
   PUBMED   28864115
  REMARK    GeneRIF: these data show that RasGRP3 exerts its oncogenic effect
            in papillary thyroid cancer through Akt-mediated MDM2 activation.
REFERENCE   6  (residues 1 to 689)
  AUTHORS   Brodie C, Steinhart R, Kazimirsky G, Rubinfeld H, Hyman T, Ayres
            JN, Hur GM, Toth A, Yang D, Garfield SH, Stone JC and Blumberg PM.
  TITLE     PKCdelta associates with and is involved in the phosphorylation of
            RasGRP3 in response to phorbol esters
  JOURNAL   Mol Pharmacol 66 (1), 76-84 (2004)
   PUBMED   15213298
REFERENCE   7  (residues 1 to 689)
  AUTHORS   Teixeira C, Stang SL, Zheng Y, Beswick NS and Stone JC.
  TITLE     Integration of DAG signaling systems mediated by PKC-dependent
            phosphorylation of RasGRP3
  JOURNAL   Blood 102 (4), 1414-1420 (2003)
   PUBMED   12730099
REFERENCE   8  (residues 1 to 689)
  AUTHORS   Lorenzo PS, Kung JW, Bottorff DA, Garfield SH, Stone JC and
            Blumberg PM.
  TITLE     Phorbol esters modulate the Ras exchange factor RasGRP3
  JOURNAL   Cancer Res 61 (3), 943-949 (2001)
   PUBMED   11221888
REFERENCE   9  (residues 1 to 689)
  AUTHORS   Rebhun JF, Castro AF and Quilliam LA.
  TITLE     Identification of guanine nucleotide exchange factors (GEFs) for
            the Rap1 GTPase. Regulation of MR-GEF by M-Ras-GTP interaction
  JOURNAL   J Biol Chem 275 (45), 34901-34908 (2000)
   PUBMED   10934204
REFERENCE   10 (residues 1 to 689)
  AUTHORS   Adams MD, Soares MB, Kerlavage AR, Fields C and Venter JC.
  TITLE     Rapid cDNA sequencing (expressed sequence tags) from a
            directionally cloned human infant brain cDNA library
  JOURNAL   Nat Genet 4 (4), 373-380 (1993)
   PUBMED   8401585
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020594.6.
            On Mar 31, 2017 this sequence version replaced XP_016859252.1.
            
            Summary: The protein encoded by this gene is a guanine nucleotide
            exchange factor that activates the oncogenes HRAS and RAP1A.
            Defects in this gene have been associated with systemic lupus
            erythematosus and several cancers. [provided by RefSeq, Mar 2017].
            
            Transcript Variant: This variant (8) differs in the 5' UTR and uses
            an alternate in-frame acceptor splice site at an internal coding
            exon compared to variant 1. This results in an isoform (2) which is
            1 aa shorter than isoform 1. Variants 3 and 7-10 all encode the
            same isoform (2).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.283709.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151741, SAMEA2154361
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..689
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.3"
     Protein         1..689
                     /product="ras guanyl-releasing protein 3 isoform 2"
                     /note="guanine nucleotide exchange factor for Rap1; ras
                     guanyl-releasing protein 3; RAS guanyl releasing protein 3
                     (calcium and DAG-regulated); CalDAG-GEFIII; calcium- and
                     diacylglycerol-regulated guanine nucleotide exchange
                     factor III; calcium and DAG-regulated guanine nucleotide
                     exchange factor III"
                     /calculated_mol_wt=78073
     Region          11..126
                     /region_name="REM"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     GTPases; N-terminal domain (RasGef_N), also called REM
                     domain (Ras exchanger motif). This domain is common in
                     nucleotide exchange factors for Ras-like small GTPases and
                     is typically found immediately...; cd06224"
                     /db_xref="CDD:100121"
     Site            order(22,68,72..73,76,79..80,115..116,119,126)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:100121"
     Region          148..384
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases; smart00147"
                     /db_xref="CDD:214539"
     Site            order(181..183,191..192,194..196,198..199,202..203,206,
                     239,242..243,245..247,249..252,254..255,275,278,283..285,
                     288,301..303,306..308,310..312,314..317,332,336,371,
                     374..375)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     Region          427..478
                     /region_name="EF-hand_7"
                     /note="EF-hand domain pair; pfam13499"
                     /db_xref="CDD:433258"
     Region          487..545
                     /region_name="C1_RASGRP3"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in RAS guanyl-releasing protein 3 (RASGRP3) and
                     similar proteins; cd20862"
                     /db_xref="CDD:410412"
     Site            order(494,507,510,524,527,532,535,543)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:410412"
     Site            order(499..505,513..517,520)
                     /site_type="other"
                     /note="putative DAG/PE binding site [chemical binding]"
                     /db_xref="CDD:410412"
     Region          666..689
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IV61.1)"
     CDS             1..689
                     /gene="RASGRP3"
                     /gene_synonym="GRP3"
                     /coded_by="NM_001349979.2:337..2406"
                     /note="isoform 2 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS54346.1"
                     /db_xref="GeneID:25780"
                     /db_xref="HGNC:HGNC:14545"
                     /db_xref="MIM:609531"
ORIGIN      
        1 mgssglgkaa tldellctci emfddngeld nsylprivll mhrwylsste laekllcmyr
       61 natgescnef rlkicyfmry wilkfpaefn ldlglirmte efrevasqlg yekhvslidi
      121 ssipsydwmr rvtqrkkvsk kgkacllfdh lepielaehl tflehksfrr isftdyqsyv
      181 ihgclennpt lersialfng iskwvqlmvl skptpqqrae vitkfinvak kllqlknfnt
      241 lmavvgglsh ssisrlketh shlssevtkn wnemtelvss ngnycnyrka fadcdgfkip
      301 ilgvhlkdli avhvifpdwt eenkvnivkm hqlsvtlsel vslqnashhl epnmdlinll
      361 tlsldlyhte ddiyklslvl eprnskspts pttpnkpvvp lewalgvmpk pdptvinkhi
      421 rklvesvfrn ydhdhdgyis qedfesiaan fpfldsfcvl dkdqdglisk demmayflra
      481 ksqlhckmgp gfihnfqemt ylkptfcehc agflwgiikq gykckdcgan chkqckdllv
      541 lacrrfarap slssghgslp gspslppaqd evfefpgvta ghrdldsrai tlvtgssrki
      601 svrlqratts qatqtepvws eagwgdsgsh tfpkmkskfh dkaakdkgfa kwenekprvh
      661 agvdvvdrgt efeldqdege etrqdgedg
//
LOCUS       NP_036346                535 aa            linear   PRI 24-DEC-2022
DEFINITION  alpha-1,3-mannosyl-glycoprotein
            4-beta-N-acetylglucosaminyltransferase A isoform 1 [Homo sapiens].
ACCESSION   NP_036346
VERSION     NP_036346.1
DBSOURCE    REFSEQ: accession NM_012214.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 535)
  AUTHORS   Nishino K, Yamamoto E, Niimi K, Sekiya Y, Yamashita Y and Kikkawa
            F.
  TITLE     N-acetylglucosaminyltransferase IVa promotes invasion of
            choriocarcinoma
  JOURNAL   Oncol Rep 38 (1), 440-448 (2017)
   PUBMED   28534963
  REMARK    GeneRIF: GnT-IVa may contribute to the malignancy of
            choriocarcinoma by promoting cell adhesion, migration and invasion
            through glycosylation of integrin beta1 and LAMP-2.
REFERENCE   2  (residues 1 to 535)
  AUTHORS   Vaiana CA, Kurcon T and Mahal LK.
  TITLE     MicroRNA-424 Predicts a Role for beta-1,4 Branched Glycosylation in
            Cell Cycle Progression
  JOURNAL   J Biol Chem 291 (3), 1529-1537 (2016)
   PUBMED   26589799
  REMARK    GeneRIF: Data suggest microRNA-424 regulates expression of MGAT4A
            (mannoside beta-1,4-N-acetylglucosaminyltransferase A), OGT
            (O-linked N-acetylglucosamine transferase), and GALNT13
            (polypeptide N-acetylgalactosaminyltransferase 13) in mammary
            epithelium.
REFERENCE   3  (residues 1 to 535)
  AUTHORS   Niimi K, Yamamoto E, Fujiwara S, Shinjo K, Kotani T, Umezu T,
            Kajiyama H, Shibata K, Ino K and Kikkawa F.
  TITLE     High expression of N-acetylglucosaminyltransferase IVa promotes
            invasion of choriocarcinoma
  JOURNAL   Br J Cancer 107 (12), 1969-1977 (2012)
   PUBMED   23169300
  REMARK    GeneRIF: Findings suggest that GnT-IVa is involved in regulating
            invasion of choriocarcinoma through modifications of the
            oligosaccharide chains of beta1 integrin.
REFERENCE   4  (residues 1 to 535)
  CONSRTM   Psychiatric GWAS Consortium Bipolar Disorder Working Group
  TITLE     Large-scale genome-wide association analysis of bipolar disorder
            identifies a new susceptibility locus near ODZ4
  JOURNAL   Nat Genet 43 (10), 977-983 (2011)
   PUBMED   21926972
  REMARK    Erratum:[Nat Genet. 2012 Sep;44(9):1072. Fullerton, Janice M
            [added]; Hyoun, Phil L [corrected to Lee, Phil H]; Meng, Fan Guo
            [corrected to Meng, Fan]]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 535)
  AUTHORS   Smith EN, Koller DL, Panganiban C, Szelinger S, Zhang P, Badner JA,
            Barrett TB, Berrettini WH, Bloss CS, Byerley W, Coryell W, Edenberg
            HJ, Foroud T, Gershon ES, Greenwood TA, Guo Y, Hipolito M, Keating
            BJ, Lawson WB, Liu C, Mahon PB, McInnis MG, McMahon FJ, McKinney R,
            Murray SS, Nievergelt CM, Nurnberger JI Jr, Nwulia EA, Potash JB,
            Rice J, Schulze TG, Scheftner WA, Shilling PD, Zandi PP, Zollner S,
            Craig DW, Schork NJ and Kelsoe JR.
  TITLE     Genome-wide association of bipolar disorder suggests an enrichment
            of replicable associations in regions near genes
  JOURNAL   PLoS Genet 7 (6), e1002134 (2011)
   PUBMED   21738484
REFERENCE   6  (residues 1 to 535)
  AUTHORS   Kudo T, Nakagawa H, Takahashi M, Hamaguchi J, Kamiyama N, Yokoo H,
            Nakanishi K, Nakagawa T, Kamiyama T, Deguchi K, Nishimura S and
            Todo S.
  TITLE     N-glycan alterations are associated with drug resistance in human
            hepatocellular carcinoma
  JOURNAL   Mol Cancer 6, 32 (2007)
   PUBMED   17488527
  REMARK    GeneRIF: We investigated mRNA levels of glycosyltransferases,
            namely, N-acetylglucosaminyltransferase a (GnT)-IVa, and found that
            (GnT)-IVa expression was decreased in HLE-cells Epirubicin
            resistant.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 535)
  AUTHORS   Oguri S, Yoshida A, Minowa MT and Takeuchi M.
  TITLE     Kinetic properties and substrate specificities of two recombinant
            human N-acetylglucosaminyltransferase-IV isozymes
  JOURNAL   Glycoconj J 23 (7-8), 473-480 (2006)
   PUBMED   17006639
  REMARK    GeneRIF: GnT-IVa is more active than GnT-IVb under physiological
            conditions and it primarily contributes to the biosynthesis of
            N-glycans.
REFERENCE   8  (residues 1 to 535)
  AUTHORS   Ide Y, Miyoshi E, Nakagawa T, Gu J, Tanemura M, Nishida T, Ito T,
            Yamamoto H, Kozutsumi Y and Taniguchi N.
  TITLE     Aberrant expression of N-acetylglucosaminyltransferase-IVa and IVb
            (GnT-IVa and b) in pancreatic cancer
  JOURNAL   Biochem Biophys Res Commun 341 (2), 478-482 (2006)
   PUBMED   16434023
  REMARK    GeneRIF: analysis of expression of
            N-acetylglucosaminyltransferase-IVa and IVb (GnT-IVa and b) in
            pancreatic cancer
REFERENCE   9  (residues 1 to 535)
  AUTHORS   D'Arrigo A, Belluco C, Ambrosi A, Digito M, Esposito G, Bertola A,
            Fabris M, Nofrate V, Mammano E, Leon A, Nitti D and Lise M.
  TITLE     Metastatic transcriptional pattern revealed by gene expression
            profiling in primary colorectal carcinoma
  JOURNAL   Int J Cancer 115 (2), 256-262 (2005)
   PUBMED   15688387
  REMARK    GeneRIF: upregulation of mannosyl (alpha-1,3-)-glycoprotein
            beta-1,4-N-acetyl-glucosaminyl-transferase is associated with
            metastatic colorectal carcinoma
REFERENCE   10 (residues 1 to 535)
  AUTHORS   Yoshida A, Minowa MT, Takamatsu S, Hara T, Oguri S, Ikenaga H and
            Takeuchi M.
  TITLE     Tissue specific expression and chromosomal mapping of a human
            UDP-N-acetylglucosamine: alpha1,3-d-mannoside beta1,
            4-N-acetylglucosaminyltransferase
  JOURNAL   Glycobiology 9 (3), 303-310 (1999)
   PUBMED   10024668
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC109826.4, AC064860.6 and
            AB000616.1.
            
            Summary: This gene encodes a key glycosyltransferase that regulates
            the formation of tri- and multiantennary branching structures in
            the Golgi apparatus. The encoded protein, in addition to the
            related isoenzyme B, catalyzes the transfer of N-acetylglucosamine
            (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the
            Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of
            R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,
            4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a
            role in regulating the availability of serum glycoproteins,
            oncogenesis, and differentiation. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.83449.1,
                                           SRR1660805.233529.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393487.6/ ENSP00000377127.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..535
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     Protein         1..535
                     /product="alpha-1,3-mannosyl-glycoprotein
                     4-beta-N-acetylglucosaminyltransferase A isoform 1"
                     /EC_number="2.4.1.145"
                     /note="UDP-N-acetylglucosamine:alpha1,3-d-mannoside
                     beta1,4-N-acetylglucosaminyltransferase;
                     alpha-1,3-mannosyl-glycoprotein
                     beta-1,4-N-acetylglucosaminyltransferase; mannosyl
                     (alpha-1,3-)-glycoprotein
                     beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A;
                     mannosyl (alpha-1,3-)-glycoprotein
                     beta-1,4-N-acetylglucosaminyltransferase, isozyme A;
                     UDP-GlcNAc:a-1,3-D-mannoside
                     b-1,4-acetylglucosaminyltransferase IV;
                     N-acetylglucosaminyltransferase IVa;
                     N-glycosyl-oligosaccharide-glycoprotein
                     N-acetylglucosaminyltransferase IVa;
                     UDP-N-acetylglucosamine: alpha-1,3-D-mannoside
                     beta-1,4-N-acetylglucosaminyltransferase IVa; glcNAc-T
                     IVa"
                     /calculated_mol_wt=61413
     Site            5..27
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM21.1)"
     Site            77
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UM21.1)"
     Region          103..380
                     /region_name="Glyco_transf_54"
                     /note="N-Acetylglucosaminyltransferase-IV (GnT-IV)
                     conserved region; pfam04666"
                     /db_xref="CDD:428056"
     Region          287..311
                     /region_name="putative TM2 helix"
                     /note="putative TM2 helix [structural motif]"
                     /db_xref="CDD:409189"
     Site            458
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UM21.1)"
     Site            474
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (Q9UM21.1)"
     CDS             1..535
                     /gene="MGAT4A"
                     /gene_synonym="GnT-4a; GNT-IV; GNT-IVA"
                     /coded_by="NM_012214.3:321..1928"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2036.1"
                     /db_xref="GeneID:11320"
                     /db_xref="HGNC:HGNC:7047"
                     /db_xref="MIM:604623"
ORIGIN      
        1 mrlrngtvat alafitsflt lswyttwqng kekliayqre flalkerlri aehrisqrss
       61 elntivqqfk rvgaetngsk dalnkfsdnt lkllkeltsk kslqvpsiyy hlphllkneg
      121 slqpavqign grtgvsivmg iptvkrevks ylietlhsli dnlypeekld cvivvfiget
      181 didyvhgvva nlekefskei ssglvevisp pesyypdltn lketfgdske rvrwrtkqnl
      241 dycflmmyaq ekgiyyiqle ddiivkqnyf ntiknfalql sseewmilef sqlgfigkmf
      301 qapdltlive fifmfykekp idwlldhilw vkvcnpekda khcdrqkanl rirfrpslfq
      361 hvglhsslsg kiqkltdkdy mkplllkihv nppaevstsl kvyqghtlek tymgedffwa
      421 itpiagdyil fkfdkpvnve sylfhsgnqe hpgdillntt vevlpfkseg leisketkdk
      481 rledgyfrig kfengvaegm vdpslnpisa frlsviqnsa vwailneihi kkatn
//
LOCUS       NP_001306039             400 aa            linear   PRI 25-DEC-2022
DEFINITION  nucleolus and neural progenitor protein isoform e [Homo sapiens].
ACCESSION   NP_001306039 XP_005247335
VERSION     NP_001306039.1
DBSOURCE    REFSEQ: accession NM_001319110.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 400)
  AUTHORS   Narayanan DL, Shukla A, Kausthubham N, Bhavani GS, Shah H, Mortier
            G and Girisha KM.
  TITLE     An emerging ribosomopathy affecting the skeleton due to biallelic
            variations in NEPRO
  JOURNAL   Am J Med Genet A 179 (9), 1709-1717 (2019)
   PUBMED   31250547
  REMARK    GeneRIF: Our report delineates the clinical and radiological
            characteristics of an emerging ribosomopathy caused by biallelic
            variants in NEPRO
REFERENCE   2  (residues 1 to 400)
  AUTHORS   Muroyama Y and Saito T.
  TITLE     Identification of Nepro, a gene required for the maintenance of
            neocortex neural progenitor cells downstream of Notch
  JOURNAL   Development 136 (23), 3889-3893 (2009)
   PUBMED   19906856
REFERENCE   3  (residues 1 to 400)
  AUTHORS   Nousiainen M, Sillje HH, Sauer G, Nigg EA and Korner R.
  TITLE     Phosphoproteome analysis of the human mitotic spindle
  JOURNAL   Proc Natl Acad Sci U S A 103 (14), 5391-5396 (2006)
   PUBMED   16565220
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC074044.8, AK295954.1 and CR749341.1.
            On Jan 23, 2016 this sequence version replaced XP_005247335.1.
            
            Transcript Variant: This variant (6) differs in the 5' UTR and 5'
            coding region compared to variant 1. The encoded isoform (e) is
            shorter than isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.125837.1,
                                           SRR1660805.83180.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..400
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.2"
     Protein         1..400
                     /product="nucleolus and neural progenitor protein isoform
                     e"
                     /note="protein nepro homolog"
                     /calculated_mol_wt=45960
     CDS             1..400
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /coded_by="NM_001319110.2:161..1363"
                     /note="isoform e is encoded by transcript variant 6"
                     /db_xref="GeneID:25871"
                     /db_xref="HGNC:HGNC:24496"
                     /db_xref="MIM:617089"
ORIGIN      
        1 mnlegsiqdl felfsskvly kgvlkrlill yeplfgllqe variqpmpyf kdftfpsdit
       61 eflgqpyfea fkkkmpiafa akginkllnk lflineqspr aseetllgis kkakqmkinv
      121 qnnvdlgqpv knkrvfkees sefdvrafcn qlkhkatqet sfdfkcsqsr lkttkyssqk
      181 vigtphaksf vqrfreaesf tqlseeiqma vvwcrskklk aqaiflgnkl lksnrlkhle
      241 aqgtslpkkl eciktsicnh llrgsgikts khhlrqrrsq nkflrrqrkp qrklqstllr
      301 eiqqfsqgtr ksatdtsakw rlshctvhrt dlypnskqll nsgvsmpviq tkekmihenl
      361 rgihenetds wtvmqinkns tsgtiketdd iddifalmgv
//
LOCUS       NP_079337                796 aa            linear   PRI 25-DEC-2022
DEFINITION  volume-regulated anion channel subunit LRRC8E isoform 1 [Homo
            sapiens].
ACCESSION   NP_079337
VERSION     NP_079337.2
DBSOURCE    REFSEQ: accession NM_025061.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 796)
  AUTHORS   Lahey LJ, Mardjuki RE, Wen X, Hess GT, Ritchie C, Carozza JA,
            Bohnert V, Maduke M, Bassik MC and Li L.
  TITLE     LRRC8A:C/E Heteromeric Channels Are Ubiquitous Transporters of
            cGAMP
  JOURNAL   Mol Cell 80 (4), 578-591 (2020)
   PUBMED   33171122
REFERENCE   2  (residues 1 to 796)
  AUTHORS   Li P, Hu M, Wang C, Feng X, Zhao Z, Yang Y, Sahoo N, Gu M, Yang Y,
            Xiao S, Sah R, Cover TL, Chou J, Geha R, Benavides F, Hume RI and
            Xu H.
  TITLE     LRRC8 family proteins within lysosomes regulate cellular
            osmoregulation and enhance cell survival to multiple physiological
            stresses
  JOURNAL   Proc Natl Acad Sci U S A 117 (46), 29155-29165 (2020)
   PUBMED   33139539
REFERENCE   3  (residues 1 to 796)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 796)
  AUTHORS   Lutter D, Ullrich F, Lueck JC, Kempa S and Jentsch TJ.
  TITLE     Selective transport of neurotransmitters and modulators by distinct
            volume-regulated LRRC8 anion channels
  JOURNAL   J Cell Sci 130 (6), 1122-1133 (2017)
   PUBMED   28193731
REFERENCE   5  (residues 1 to 796)
  AUTHORS   Syeda R, Qiu Z, Dubin AE, Murthy SE, Florendo MN, Mason DE, Mathur
            J, Cahalan SM, Peters EC, Montal M and Patapoutian A.
  TITLE     LRRC8 Proteins Form Volume-Regulated Anion Channels that Sense
            Ionic Strength
  JOURNAL   Cell 164 (3), 499-511 (2016)
   PUBMED   26824658
REFERENCE   6  (residues 1 to 796)
  AUTHORS   Voss FK, Ullrich F, Munch J, Lazarow K, Lutter D, Mah N,
            Andrade-Navarro MA, von Kries JP, Stauber T and Jentsch TJ.
  TITLE     Identification of LRRC8 heteromers as an essential component of the
            volume-regulated anion channel VRAC
  JOURNAL   Science 344 (6184), 634-638 (2014)
   PUBMED   24790029
REFERENCE   7  (residues 1 to 796)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   8  (residues 1 to 796)
  AUTHORS   Kubota K, Kim JY, Sawada A, Tokimasa S, Fujisaki H, Matsuda-Hashii
            Y, Ozono K and Hara J.
  TITLE     LRRC8 involved in B cell development belongs to a novel family of
            leucine-rich repeat proteins
  JOURNAL   FEBS Lett 564 (1-2), 147-152 (2004)
   PUBMED   15094057
  REMARK    GeneRIF: identified four genes, named TA-LRRP, AD158, LRRC5, and
            FLJ23420, as unknown LRRC8-like genes
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK091134.1, KF459574.1,
            BX538180.1 and CB049178.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 19, 2003 this sequence version replaced NP_079337.1.
            
            Summary: This gene encodes a member of a small, conserved family of
            proteins with similar structure, including a string of
            extracellular leucine-rich repeats. A related protein was shown to
            be involved in B-cell development. Alternatively spliced transcript
            variants encoding multiple isoforms have been observed for this
            gene. [provided by RefSeq, Jun 2012].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1). Variants 1 and 2 encode the same protein (isoform 1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX538180.1, BC070089.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306708.11/ ENSP00000306524.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..796
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     Protein         1..796
                     /product="volume-regulated anion channel subunit LRRC8E
                     isoform 1"
                     /note="leucine-rich repeat-containing protein 8E;
                     volume-regulated anion channel subunit LRRC8E; leucine
                     rich repeat containing 8 family member E"
                     /calculated_mol_wt=90116
     Region          1..331
                     /region_name="Pannexin_like"
                     /note="Pannexin-like TM region of LRRC8; pfam12534"
                     /db_xref="CDD:432617"
     Site            23..43
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Site            63
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Site            117..137
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Site            266..286
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Site            302
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Site            314..334
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Region          486..508
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          508..529
                     /region_name="LRR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Region          509..527
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          520..>776
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:227223"
     Region          536..557
                     /region_name="LRR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Region          537..559
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          559..579
                     /region_name="LRR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Region          560..583
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          583..604
                     /region_name="LRR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Region          584..606
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          606..627
                     /region_name="LRR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Region          607..631
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          631..652
                     /region_name="LRR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Region          632..654
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          654..675
                     /region_name="LRR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Region          655..677
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          677..698
                     /region_name="LRR 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Region          678..700
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          700..721
                     /region_name="LRR 9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Region          701..723
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          723..744
                     /region_name="LRR 10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Region          724..746
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          746..767
                     /region_name="LRR 11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NSJ5.2)"
     Region          747..767
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..796
                     /gene="LRRC8E"
                     /coded_by="NM_025061.6:97..2487"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS12189.1"
                     /db_xref="GeneID:80131"
                     /db_xref="HGNC:HGNC:26272"
                     /db_xref="MIM:612891"
ORIGIN      
        1 mipvaefkqf teqqpafkvl kpwwdvlaey ltvamlmigv fgctlqvtqd kiiclpnhel
       61 qenlseapcq qllprgipeq igalqevkgl knnldlqqys finqlcyeta lhwyakyfpy
      121 lvvihtlifm vctsfwfkfp gtsskiehfi silgkcfdsp wttralsevs genqkgpaat
      181 eraaativam agtgpgkage gekekvlaep ekvvteppvv tlldkkegeq akalfekvkk
      241 frmhveegdi lytmyirqtv lkvckflail vynlvyveki sflvacrvet sevtgyasfc
      301 cnhtkahlfs klafcyisfv ciygltciyt lywlfhrplk eysfrsvree tgmgdipdvk
      361 ndfafmlhli dqydslyskr favflsevse srlkqlnlnh ewtpeklrqk lqrnaagrle
      421 lalcmlpglp dtvfelseve slrleaicdi tfppglsqlv hlqelsllhs parlpfslqv
      481 flrdhlkvmr vkceelrevp lwvfglrgle elhleglfpq elaraatles lrelkqlkvl
      541 slrsnagkvp asvtdvaghl qrlslhndga rlvalnslkk laalrelelv acgleripha
      601 vfslgalqel dlkdnhlrsi eeilsfqhcr klvtlrlwhn qiayvpehvr klrsleqlyl
      661 synkletlps qlglcsglrl ldvshnglhs lppevgllqn lqhlalsyna lealpeelff
      721 crklrtlllg dnqlsqlsph vgalralsrl elkgnrleal peelgncggl kkagllvedt
      781 lyqglpaevr dkmeee
//
LOCUS       NP_006172                580 aa            linear   PRI 25-DEC-2022
DEFINITION  netrin-3 precursor [Homo sapiens].
ACCESSION   NP_006172
VERSION     NP_006172.1
DBSOURCE    REFSEQ: accession NM_006181.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 580)
  AUTHORS   Gao X, Metzger U, Panza P, Mahalwar P, Alsheimer S, Geiger H,
            Maischein HM, Levesque MP, Templin M and Sollner C.
  TITLE     A Floor-Plate Extracellular Protein-Protein Interaction Screen
            Identifies Draxin as a Secreted Netrin-1 Antagonist
  JOURNAL   Cell Rep 12 (4), 694-708 (2015)
   PUBMED   26190107
REFERENCE   2  (residues 1 to 580)
  AUTHORS   Jarjour AA, Durko M, Luk TL, Marcal N, Shekarabi M and Kennedy TE.
  TITLE     Autocrine netrin function inhibits glioma cell motility and
            promotes focal adhesion formation
  JOURNAL   PLoS One 6 (9), e25408 (2011)
   PUBMED   21980448
  REMARK    GeneRIF: an autocrine function for netrin-1 and netrin-3 in U87 and
            U373 cells that slows migration
REFERENCE   3  (residues 1 to 580)
  AUTHORS   Krauss RS, Cole F, Gaio U, Takaesu G, Zhang W and Kang JS.
  TITLE     Close encounters: regulation of vertebrate skeletal myogenesis by
            cell-cell contact
  JOURNAL   J Cell Sci 118 (Pt 11), 2355-2362 (2005)
   PUBMED   15923648
  REMARK    Review article
REFERENCE   4  (residues 1 to 580)
  AUTHORS   Latil A, Chene L, Cochant-Priollet B, Mangin P, Fournier G, Berthon
            P and Cussenot O.
  TITLE     Quantification of expression of netrins, slits and their receptors
            in human prostate tumors
  JOURNAL   Int J Cancer 103 (3), 306-315 (2003)
   PUBMED   12471613
REFERENCE   5  (residues 1 to 580)
  AUTHORS   Laszlo T, Nagy M, Kelenyi G and Matolcsy A.
  TITLE     Immunoglobulin V(H) gene mutational analysis suggests that blastic
            variant of mantle cell lymphoma derives from different stages of
            B-cell maturation
  JOURNAL   Leuk Res 24 (1), 27-31 (2000)
   PUBMED   10634642
REFERENCE   6  (residues 1 to 580)
  AUTHORS   Hamblin TJ, Davis Z, Gardiner A, Oscier DG and Stevenson FK.
  TITLE     Unmutated Ig V(H) genes are associated with a more aggressive form
            of chronic lymphocytic leukemia
  JOURNAL   Blood 94 (6), 1848-1854 (1999)
   PUBMED   10477713
REFERENCE   7  (residues 1 to 580)
  AUTHORS   Wang H, Copeland NG, Gilbert DJ, Jenkins NA and Tessier-Lavigne M.
  TITLE     Netrin-3, a mouse homolog of human NTN2L, is highly expressed in
            sensory ganglia and shows differential binding to netrin receptors
  JOURNAL   J Neurosci 19 (12), 4938-4947 (1999)
   PUBMED   10366627
REFERENCE   8  (residues 1 to 580)
  AUTHORS   de Wildt RM, Hoet RM, van Venrooij WJ, Tomlinson IM and Winter G.
  TITLE     Analysis of heavy and light chain pairings indicates that receptor
            editing shapes the human antibody repertoire
  JOURNAL   J Mol Biol 285 (3), 895-901 (1999)
   PUBMED   9887257
REFERENCE   9  (residues 1 to 580)
  AUTHORS   Van Raay TJ, Foskett SM, Connors TD, Klinger KW, Landes GM and Burn
            TC.
  TITLE     The NTN2L gene encoding a novel human netrin maps to the autosomal
            dominant polycystic kidney disease region on chromosome 16p13.3
  JOURNAL   Genomics 41 (2), 279-282 (1997)
   PUBMED   9143507
REFERENCE   10 (residues 1 to 580)
  AUTHORS   Burn TC, Connors TD, Van Raay TJ, Dackowski WR, Millholland JM,
            Klinger KW and Landes GM.
  TITLE     Generation of a transcriptional map for a 700-kb region surrounding
            the polycystic kidney disease type 1 (PKD1) and tuberous sclerosis
            type 2 (TSC2) disease genes on human chromosome 16p3.3
  JOURNAL   Genome Res 6 (6), 525-537 (1996)
   PUBMED   8828041
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC106820.4 and U86759.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U86759.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000293973.2/ ENSP00000293973.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..580
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..580
                     /product="netrin-3 precursor"
                     /note="Netrin-2, chicken, homolog of, like; Netrin-3;
                     netrin-2-like protein"
                     /calculated_mol_wt=58794
     sig_peptide     1..27
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2690
     mat_peptide     28..580
                     /product="Netrin-3. /id=PRO_0000017085"
                     /note="propagated from UniProtKB/Swiss-Prot (O00634.1)"
                     /calculated_mol_wt=58794
     Region          34..253
                     /region_name="LamNT"
                     /note="Laminin N-terminal domain (domain VI); smart00136"
                     /db_xref="CDD:214532"
     Region          62..83
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00634.1)"
     Site            104
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O00634.1)"
     Region          254..299
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(255,257,267,274,276,285)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          311..362
                     /region_name="Laminin_EGF"
                     /note="Laminin EGF domain; pfam00053"
                     /db_xref="CDD:395007"
     Site            order(311,313,320,338,341,350)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          373..422
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(374,376,386,393,395,404)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Site            387
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O00634.1)"
     Region          456..562
                     /region_name="NTR_like"
                     /note="NTR_like domain; a beta barrel with an
                     oligosaccharide/oligonucleotide-binding fold found in
                     netrins, complement proteins, tissue inhibitors of
                     metalloproteases (TIMP), and procollagen C-proteinase
                     enhancers (PCOLCE), amongst others. In netrins, the...;
                     cl02512"
                     /db_xref="CDD:413349"
     Region          500..502
                     /region_name="Cell attachment site, atypical.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O00634.1)"
     CDS             1..580
                     /gene="NTN3"
                     /gene_synonym="NTN2L"
                     /coded_by="NM_006181.3:406..2148"
                     /db_xref="CCDS:CCDS10469.1"
                     /db_xref="GeneID:4917"
                     /db_xref="HGNC:HGNC:8030"
                     /db_xref="MIM:602349"
ORIGIN      
        1 mpgwpwglll tagtlfaals pgppapadpc hdeggaprgc vpglvnaalg revlasstcg
       61 rpatracdas dprrahspal ltspggtasp lcwrseslpr aplnvtltvp lgkafelvfv
      121 slrfcsappa svallksqdh grswaplgff sshcdldygr lpapangpag pgpealcfpa
      181 plaqpdgsgl lafsmqdssp pgldldsspv lqdwvtatdv rvvltrpsta gdprdmeavv
      241 pysyaatdlq vggrckcngh asrclldtqg hlicdcrhgt egpdcgrckp fycdrpwqra
      301 tareshacla cscngharrc rfnmelyrls grrsggvcln crhntagrhc hycregfyrd
      361 pgralsdrra cracdchpvg aagktcnqtt gqcpckdgvt gltcnrcapg fqqsrspvap
      421 cvktpipgpt edsspvqpqd cdshckparg syrislkkfc kkdyavqvav gargeargaw
      481 trfpvavlav frsgeerarr gssalwvpag daacgcprll pgrrylllgg gpgaaaggag
      541 grgpgliaar gslvlpwrda wtrrlrrlqr rerrgrcsaa
//
LOCUS       NP_001186224             640 aa            linear   PRI 25-DEC-2022
DEFINITION  zinc finger protein 549 isoform 1 [Homo sapiens].
ACCESSION   NP_001186224
VERSION     NP_001186224.2
DBSOURCE    REFSEQ: accession NM_001199295.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 640)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC003682.1.
            On Nov 23, 2018 this sequence version replaced NP_001186224.1.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC060863.1, SRR1660809.82153.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376233.8/ ENSP00000365407.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..640
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     Protein         1..640
                     /product="zinc finger protein 549 isoform 1"
                     /calculated_mol_wt=74308
     Region          27..67
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          223..603
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          224..241
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          249..269
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          277..298
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          306..326
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          334..355
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          363..383
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          391..411
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(396,398,400,402..403,406..407,410,424,426,430..431,
                     434..435,438,452,454,456,458..459,462..463,466)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          419..439
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          447..467
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          475..495
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          503..523
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          531..551
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          559..579
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(564,566,568,570..571,574..575,578,592,594,598..599,
                     602..603,606,620,622,624,626..627,630..631,634)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          587..607
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          600..624
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          615..635
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..640
                     /gene="ZNF549"
                     /coded_by="NM_001199295.2:219..2141"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS56106.1"
                     /db_xref="GeneID:256051"
                     /db_xref="HGNC:HGNC:26632"
ORIGIN      
        1 maeaalvitp qipmvteefv kpsqghvtfe diavyfsqee wglldeaqrc lyhdvmlenf
       61 slmasvgclh gieaeeapse qtlsaqgvsq artpklgpsi pnahscemci lvmkdilyls
      121 ehqgtlpwqk pytsvasgkw fsfgsnlqqh qnqdsgekhi rkeessalll nsckiplsdn
      181 lfpckdvekd fptilgllqh qtthsrqeya hrsretfqqr rykceqvfne kvhvtehqrv
      241 htgekaykrr eygkslnsky lfvehqrthn aekpyvcnic gksflhkqtl vghqqrihtr
      301 ersyvciecg kslsskyslv ehqrthngek pyvcnvcgks frhkqtfvgh qqrihtgerp
      361 yvcmecgksf ihsydrirhq rvhtgegayq csecgksfiy kqslldhhri htgerpyeck
      421 ecgkafihkk rllehqriht gekpyvciic gksfirssdy mrhqrihtge rayecsdcgk
      481 afiskqtllk hhkihtrerp yecsecgkgf ylevkllqhq rihtreqlce cnecgkvfsh
      541 qkrllehqkv htgekpcecs ecgkcfrhrt sliqhqkvhs gerpynctac ekafiyknkl
      601 vehqrihtge kpyecgkcgk afnkryslvr hqkvhiteep
//
LOCUS       NP_001335112            1165 aa            linear   PRI 26-DEC-2022
DEFINITION  intersectin-2 isoform 6 [Homo sapiens].
ACCESSION   NP_001335112
VERSION     NP_001335112.1
DBSOURCE    REFSEQ: accession NM_001348183.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1165)
  AUTHORS   Salokas K, Liu X, Ohman T, Chowdhury I, Gawriyski L, Keskitalo S
            and Varjosalo M.
  TITLE     Physical and functional interactome atlas of human receptor
            tyrosine kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   2  (residues 1 to 1165)
  AUTHORS   Kennedy SA, Jarboui MA, Srihari S, Raso C, Bryan K, Dernayka L,
            Charitou T, Bernal-Llinares M, Herrera-Montavez C, Krstic A,
            Matallanas D, Kotlyar M, Jurisica I, Curak J, Wong V, Stagljar I,
            LeBihan T, Imrie L, Pillai P, Lynn MA, Fasterius E, Al-Khalili
            Szigyarto C, Breen J, Kiel C, Serrano L, Rauch N, Rukhlenko O,
            Kholodenko BN, Iglesias-Martinez LF, Ryan CJ, Pilkington R,
            Cammareri P, Sansom O, Shave S, Auer M, Horn N, Klose F, Ueffing M,
            Boldt K, Lynn DJ and Kolch W.
  TITLE     Extensive rewiring of the EGFR network in colorectal cancer cells
            expressing transforming levels of KRASG13D
  JOURNAL   Nat Commun 11 (1), 499 (2020)
   PUBMED   31980649
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1165)
  AUTHORS   Kropyvko S, Gryaznova T, Morderer D and Rynditch A.
  TITLE     Mammalian verprolin CR16 acts as a modulator of ITSN scaffold
            proteins association with actin
  JOURNAL   Biochem Biophys Res Commun 484 (4), 813-819 (2017)
   PUBMED   28161632
  REMARK    GeneRIF: These findings provide the basis for further functional
            investigations of the ITSN/CR16 complex that may play an important
            role in actin remodeling and cellular invasion.
REFERENCE   4  (residues 1 to 1165)
  AUTHORS   Yang X, Yan F, He Z, Liu S, Cheng Y, Wei K, Gan S, Yuan J, Wang S,
            Xiao Y, Ren K, Liu N, Hu X, Ding X, Hu X and Xiang S.
  TITLE     ITSN2L Interacts with and Negatively Regulates RABEP1
  JOURNAL   Int J Mol Sci 16 (12), 28242-28254 (2015)
   PUBMED   26633357
  REMARK    GeneRIF: ITSN2L interacts with RABEP1 and stimulates its
            degradation in regulation of endocytosis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1165)
  AUTHORS   Cerhan JR, Berndt SI, Vijai J, Ghesquieres H, McKay J, Wang SS,
            Wang Z, Yeager M, Conde L, de Bakker PI, Nieters A, Cox D, Burdett
            L, Monnereau A, Flowers CR, De Roos AJ, Brooks-Wilson AR, Lan Q,
            Severi G, Melbye M, Gu J, Jackson RD, Kane E, Teras LR, Purdue MP,
            Vajdic CM, Spinelli JJ, Giles GG, Albanes D, Kelly RS, Zucca M,
            Bertrand KA, Zeleniuch-Jacquotte A, Lawrence C, Hutchinson A, Zhi
            D, Habermann TM, Link BK, Novak AJ, Dogan A, Asmann YW, Liebow M,
            Thompson CA, Ansell SM, Witzig TE, Weiner GJ, Veron AS, Zelenika D,
            Tilly H, Haioun C, Molina TJ, Hjalgrim H, Glimelius B, Adami HO,
            Bracci PM, Riby J, Smith MT, Holly EA, Cozen W, Hartge P, Morton
            LM, Severson RK, Tinker LF, North KE, Becker N, Benavente Y,
            Boffetta P, Brennan P, Foretova L, Maynadie M, Staines A, Lightfoot
            T, Crouch S, Smith A, Roman E, Diver WR, Offit K, Zelenetz A, Klein
            RJ, Villano DJ, Zheng T, Zhang Y, Holford TR, Kricker A, Turner J,
            Southey MC, Clavel J, Virtamo J, Weinstein S, Riboli E, Vineis P,
            Kaaks R, Trichopoulos D, Vermeulen RC, Boeing H, Tjonneland A,
            Angelucci E, Di Lollo S, Rais M, Birmann BM, Laden F, Giovannucci
            E, Kraft P, Huang J, Ma B, Ye Y, Chiu BC, Sampson J, Liang L, Park
            JH, Chung CC, Weisenburger DD, Chatterjee N, Fraumeni JF Jr, Slager
            SL, Wu X, de Sanjose S, Smedby KE, Salles G, Skibola CF, Rothman N
            and Chanock SJ.
  TITLE     Genome-wide association study identifies multiple susceptibility
            loci for diffuse large B cell lymphoma
  JOURNAL   Nat Genet 46 (11), 1233-1238 (2014)
   PUBMED   25261932
REFERENCE   6  (residues 1 to 1165)
  AUTHORS   Nakayama M, Kikuno R and Ohara O.
  TITLE     Protein-protein interactions between large proteins: two-hybrid
            screening using a functionally classified library composed of long
            cDNAs
  JOURNAL   Genome Res 12 (11), 1773-1784 (2002)
   PUBMED   12421765
REFERENCE   7  (residues 1 to 1165)
  AUTHORS   McGavin MK, Badour K, Hardy LA, Kubiseski TJ, Zhang J and
            Siminovitch KA.
  TITLE     The intersectin 2 adaptor links Wiskott Aldrich Syndrome protein
            (WASp)-mediated actin polymerization to T cell antigen receptor
            endocytosis
  JOURNAL   J Exp Med 194 (12), 1777-1787 (2001)
   PUBMED   11748279
REFERENCE   8  (residues 1 to 1165)
  AUTHORS   Pucharcos C, Casas C, Nadal M, Estivill X and de la Luna S.
  TITLE     The human intersectin genes and their spliced variants are
            differentially expressed
  JOURNAL   Biochim Biophys Acta 1521 (1-3), 1-11 (2001)
   PUBMED   11690630
REFERENCE   9  (residues 1 to 1165)
  AUTHORS   Pucharcos C, Estivill X and de la Luna S.
  TITLE     Intersectin 2, a new multimodular protein involved in
            clathrin-mediated endocytosis
  JOURNAL   FEBS Lett 478 (1-2), 43-51 (2000)
   PUBMED   10922467
REFERENCE   10 (residues 1 to 1165)
  AUTHORS   Sparks AB, Hoffman NG, McConnell SJ, Fowlkes DM and Kay BK.
  TITLE     Cloning of ligand targets: systematic isolation of SH3
            domain-containing proteins
  JOURNAL   Nat Biotechnol 14 (6), 741-744 (1996)
   PUBMED   9630982
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009228.4.
            
            Summary: This gene encodes a cytoplasmic protein which contains SH3
            domains. This protein is a member of a family of proteins involved
            in clathrin-mediated endocytosis. Intersectin 2 is thought to
            regulate the formation of clathrin-coated vesicles and also may
            function in the induction of T cell antigen receptor (TCR)
            endocytosis. [provided by RefSeq, Jan 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.3130146.1,
                                           SRR18074969.3446561.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1165
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     Protein         1..1165
                     /product="intersectin-2 isoform 6"
                     /note="SH3 domain-containing protein 1B; SH3P18-like
                     WASP-associated protein"
                     /calculated_mol_wt=132048
     Region          15..107
                     /region_name="EH"
                     /note="Eps15 homology domain; smart00027"
                     /db_xref="CDD:197477"
     Region          91..>184
                     /region_name="KLF3_N"
                     /note="N-terminal domain of Kruppel-like factor 3;
                     cd21577"
                     /db_xref="CDD:410554"
     Region          237..316
                     /region_name="EH"
                     /note="Eps15 homology domain; smart00027"
                     /db_xref="CDD:197477"
     Region          377..>727
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          732..788
                     /region_name="SH3_Intersectin2_1"
                     /note="First Src homology 3 domain (or SH3A) of
                     Intersectin-2; cd11988"
                     /db_xref="CDD:212921"
     Site            order(739,741,744,748,768..769,782,784..785)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212921"
     Region          875..926
                     /region_name="SH3_Intersectin2_2"
                     /note="Second Src homology 3 domain (or SH3B) of
                     Intersectin-2; cd11990"
                     /db_xref="CDD:212923"
     Site            order(880,882,885,889,906..907,920,922..923)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212923"
     Region          958..1009
                     /region_name="SH3_Intersectin2_3"
                     /note="Third Src homology 3 domain (or SH3C) of
                     Intersectin-2; cd11992"
                     /db_xref="CDD:212925"
     Site            order(963,965,968,972,989..990,1003,1005..1006)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212925"
     Region          1030..1088
                     /region_name="SH3_Intersectin2_4"
                     /note="Fourth Src homology 3 domain (or SH3D) of
                     Intersectin-2; cd11994"
                     /db_xref="CDD:212927"
     Site            order(1035,1037,1040,1044,1062..1063,1081,1083..1084)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212927"
     Region          1103..1156
                     /region_name="SH3_Intersectin2_5"
                     /note="Fifth Src homology 3 domain (or SH3E) of
                     Intersectin-2; cd11996"
                     /db_xref="CDD:212929"
     Site            order(1109,1111,1114,1118,1136..1137,1150,1152..1153)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212929"
     CDS             1..1165
                     /gene="ITSN2"
                     /gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
                     /coded_by="NM_001348183.2:267..3764"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="GeneID:50618"
                     /db_xref="HGNC:HGNC:6184"
                     /db_xref="MIM:604464"
ORIGIN      
        1 mmaqfptamn ggpnmwaits eertkhdrqf dnlkpsggyi tgdqarnffl qsglpapvla
       61 eiwalsdlnk dgkmdqqefs iamkliklkl qgqqlpvvlp pimkqppmfs plisarfgmg
      121 smpnlsipqp lppaapitsl ssatsgtnlp plmmptplvp svstsslpng tasliqplpi
      181 pyssstlphg ssyslmmggf ggasiqkaqs lidlgsssst sstaslsgns pktgtsewav
      241 pqptrlkyrq kfntldksms gylsgfqarn allqsnlsqt qlatiwtlad vdgdgqlkae
      301 efilamhltd makagqplpl tlppelvpps frggkqidsi ngtlpsyqkm qeeepqkklp
      361 vtfedkrkan yergnmelek rrqalmeqqq reaerkaqke keewerkqre lqeqewkkql
      421 elekrlekqr elerqreeer rkdierreaa kqelerqrrl ewerirrqel lnqknreqee
      481 ivrlnskkkn lhlelealng khqqisgrlq dvrlkkqtqk televldkqc dleimeikql
      541 qqelqeyqnk liylvpekql lneriknmqf sntpdsgvsl lhkkslekee lcqrlkeqld
      601 aleketaskl semdsfnnql kelretyntq qlaleqlyki krdklkeier krlelmqkkk
      661 ledeaarkak qgkenlwken lrkeeeekqk rlqeektqek iqeeerkaee kqrkdkdtlk
      721 aeekkretas vlvnyralyp fearnhdems fnsgdiiqvd ektvgepgwl ygsfqgnfgw
      781 fpcnyvekmp ssenekavsp kkallpptvs lsatstssep lssnqpasvt dyqnvsfsnl
      841 tvntswqkks aftrtvspgs vspihgqgqv venlkaqalc swtakkdnhl nfskhdiitv
      901 leqqenwwfg evhggrgwfp ksyvkiipgs evkreepeal yaavnkkpts aaysvgeeyi
      961 alypyssvep gdltftegee ilvtqkdgew wtgsigdrsg ifpsnyvkpk dqesfgsask
     1021 sgasnkkpei aqvtsayvas gseqlslapg qlililkknt sgwwqgelqa rgkkrqkgwf
     1081 pashvkllgp sseratpafh pvcqviamyd yaannedels fskgqlinvm nkddpdwwqg
     1141 eingvtglfp snyvkmttds dpsqq
//
LOCUS       NP_001156731             374 aa            linear   PRI 27-DEC-2022
DEFINITION  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform 4 [Homo
            sapiens].
ACCESSION   NP_001156731
VERSION     NP_001156731.2
DBSOURCE    REFSEQ: accession NM_001163259.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 374)
  AUTHORS   Abdul Rehman SA, Armstrong LA, Lange SM, Kristariyanto YA, Grawert
            TW, Knebel A, Svergun DI and Kulathu Y.
  TITLE     Mechanism of activation and regulation of deubiquitinase activity
            in MINDY1 and MINDY2
  JOURNAL   Mol Cell 81 (20), 4176-4190 (2021)
   PUBMED   34529927
  REMARK    GeneRIF: Mechanism of activation and regulation of deubiquitinase
            activity in MINDY1 and MINDY2.
REFERENCE   2  (residues 1 to 374)
  AUTHORS   Tang J, Luo Y, Long G and Zhou L.
  TITLE     MINDY1 promotes breast cancer cell proliferation by stabilizing
            estrogen receptor alpha
  JOURNAL   Cell Death Dis 12 (10), 937 (2021)
   PUBMED   34645792
  REMARK    GeneRIF: MINDY1 promotes breast cancer cell proliferation by
            stabilizing estrogen receptor alpha.
            Erratum:[Cell Death Dis. 2022 Jan 27;13(1):88. PMID: 35087032]
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 374)
  AUTHORS   Kristariyanto YA, Abdul Rehman SA, Weidlich S, Knebel A and Kulathu
            Y.
  TITLE     A single MIU motif of MINDY-1 recognizes K48-linked polyubiquitin
            chains
  JOURNAL   EMBO Rep 18 (3), 392-402 (2017)
   PUBMED   28082312
REFERENCE   4  (residues 1 to 374)
  AUTHORS   Abdul Rehman SA, Kristariyanto YA, Choi SY, Nkosi PJ, Weidlich S,
            Labib K, Hofmann K and Kulathu Y.
  TITLE     MINDY-1 Is a Member of an Evolutionarily Conserved and Structurally
            Distinct New Family of Deubiquitinating Enzymes
  JOURNAL   Mol Cell 63 (1), 146-155 (2016)
   PUBMED   27292798
  REMARK    GeneRIF: MINDY-1 prefers cleaving long polyubiquitin chains and
            works by trimming chains from the distal end.
REFERENCE   5  (residues 1 to 374)
  AUTHORS   Kirin M, Chandra A, Charteris DG, Hayward C, Campbell S, Celap I,
            Bencic G, Vatavuk Z, Kirac I, Richards AJ, Tenesa A, Snead MP,
            Fleck BW, Singh J, Harsum S, Maclaren RE, den Hollander AI, Dunlop
            MG, Hoyng CB, Wright AF, Campbell H, Vitart V and Mitry D.
  TITLE     Genome-wide association study identifies genetic risk underlying
            primary rhegmatogenous retinal detachment
  JOURNAL   Hum Mol Genet 22 (15), 3174-3185 (2013)
   PUBMED   23585552
REFERENCE   6  (residues 1 to 374)
  AUTHORS   Kottgen A, Pattaro C, Boger CA, Fuchsberger C, Olden M, Glazer NL,
            Parsa A, Gao X, Yang Q, Smith AV, O'Connell JR, Li M, Schmidt H,
            Tanaka T, Isaacs A, Ketkar S, Hwang SJ, Johnson AD, Dehghan A,
            Teumer A, Pare G, Atkinson EJ, Zeller T, Lohman K, Cornelis MC,
            Probst-Hensch NM, Kronenberg F, Tonjes A, Hayward C, Aspelund T,
            Eiriksdottir G, Launer LJ, Harris TB, Rampersaud E, Mitchell BD,
            Arking DE, Boerwinkle E, Struchalin M, Cavalieri M, Singleton A,
            Giallauria F, Metter J, de Boer IH, Haritunians T, Lumley T,
            Siscovick D, Psaty BM, Zillikens MC, Oostra BA, Feitosa M, Province
            M, de Andrade M, Turner ST, Schillert A, Ziegler A, Wild PS,
            Schnabel RB, Wilde S, Munzel TF, Leak TS, Illig T, Klopp N,
            Meisinger C, Wichmann HE, Koenig W, Zgaga L, Zemunik T, Kolcic I,
            Minelli C, Hu FB, Johansson A, Igl W, Zaboli G, Wild SH, Wright AF,
            Campbell H, Ellinghaus D, Schreiber S, Aulchenko YS, Felix JF,
            Rivadeneira F, Uitterlinden AG, Hofman A, Imboden M, Nitsch D,
            Brandstatter A, Kollerits B, Kedenko L, Magi R, Stumvoll M, Kovacs
            P, Boban M, Campbell S, Endlich K, Volzke H, Kroemer HK, Nauck M,
            Volker U, Polasek O, Vitart V, Badola S, Parker AN, Ridker PM,
            Kardia SL, Blankenberg S, Liu Y, Curhan GC, Franke A, Rochat T,
            Paulweber B, Prokopenko I, Wang W, Gudnason V, Shuldiner AR, Coresh
            J, Schmidt R, Ferrucci L, Shlipak MG, van Duijn CM, Borecki I,
            Kramer BK, Rudan I, Gyllensten U, Wilson JF, Witteman JC,
            Pramstaller PP, Rettig R, Hastie N, Chasman DI, Kao WH, Heid IM and
            Fox CS.
  TITLE     New loci associated with kidney function and chronic kidney disease
  JOURNAL   Nat Genet 42 (5), 376-384 (2010)
   PUBMED   20383146
REFERENCE   7  (residues 1 to 374)
  AUTHORS   Lehner B and Sanderson CM.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590133.32, DA292825.1, AK303962.1, BC032321.1 and AW072847.1.
            On Nov 18, 2019 this sequence version replaced NP_001156731.1.
            
            Transcript Variant: This variant (4) uses an alternate splice site
            in the 5' coding region and a downstream start codon, compared to
            variant 1. The promoter and extent of the 5' UTR for this variant
            have not been characterized. The resulting isoform (4) has a
            shorter N-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK303962.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..374
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..374
                     /product="ubiquitin carboxyl-terminal hydrolase MINDY-1
                     isoform 4"
                     /EC_number="3.4.19.12"
                     /note="protein FAM63A; deubiquitinating enzyme MINDY-1;
                     ubiquitin carboxyl-terminal hydrolase MINDY-1;
                     MIU-containing novel DUB family member 1; motif
                     interacting with Ub-containing novel DUB; family with
                     sequence similarity 63 member A; MINDY deubiquitinase 1"
                     /calculated_mol_wt=41702
     Region          49..166
                     /region_name="MINDY_DUB"
                     /note="MINDY deubiquitinase; pfam04424"
                     /db_xref="CDD:427941"
     CDS             1..374
                     /gene="MINDY1"
                     /gene_synonym="FAM63A; MINDY-1"
                     /coded_by="NM_001163259.2:660..1784"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS55635.1"
                     /db_xref="GeneID:55793"
                     /db_xref="HGNC:HGNC:25648"
                     /db_xref="MIM:618407"
ORIGIN      
        1 mpqelpqspr trqpepdfyc vkwipwkgeq tpiitqstng pcpllaimni lflqwkvklp
       61 pqkevitsde lmahlgncll sikpqekseg lqlnfqqnvd damtvlpkla tgldvnvrft
      121 gvsdfeytpe csvfdllgip lyhgwlvdpq speavravgk lsynqlveri itckhssdtn
      181 lvtegliaeq flettaaqlt yhglceltaa akegelsvff rnnhfstmtk hkshlyllvt
      241 dqgflqeeqv vweslhnvdg dscfcdsdfh lshslgkgpg aeggsgspet qlqvdqdyli
      301 alslqqqqpr gplgltdlel aqqlqqeeyq qqqaaqpvrm rtrvlslqgr gatsgrpage
      361 rrqrpkhesd cill
//
LOCUS       NP_001352738             686 aa            linear   PRI 27-DEC-2022
DEFINITION  synaptotagmin-7 isoform 4 [Homo sapiens].
ACCESSION   NP_001352738 XP_005274440
VERSION     NP_001352738.1
DBSOURCE    REFSEQ: accession NM_001365809.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 686)
  AUTHORS   Dong S, Pan J, Shen YB, Zhu LX, Chen L, Zhu F, Li H, Shen HX, Xia
            Q, Wu YJ and Xie XJ.
  TITLE     SYT7 plays a role in promoting thyroid cancer by mediating HMGB3
            ubiquitination
  JOURNAL   Endocr Relat Cancer 29 (4), 175-189 (2022)
   PUBMED   35073278
  REMARK    GeneRIF: SYT7 plays a role in promoting thyroid cancer by mediating
            HMGB3 ubiquitination.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 686)
  AUTHORS   Wang QW, Lu SY, Liu YN, Chen Y, Wei H, Shen W, Chen YF, Fu CL, Wang
            YH, Dai A, Huang X, Gage FH, Xu Q and Yao J.
  TITLE     Synaptotagmin-7 deficiency induces mania-like behavioral
            abnormalities through attenuating GluN2B activity
  JOURNAL   Proc Natl Acad Sci U S A 117 (49), 31438-31447 (2020)
   PUBMED   33229564
  REMARK    GeneRIF: Synaptotagmin-7 deficiency induces mania-like behavioral
            abnormalities through attenuating GluN2B activity.
            Erratum:[Proc Natl Acad Sci U S A. 2021 Aug 10;118(32):. PMID:
            34341124]
REFERENCE   3  (residues 1 to 686)
  AUTHORS   Jin H, Pang Q, Fang M, Wang Y, Man Z, Tan Y and Liu H.
  TITLE     Syt-7 overexpression predicts poor prognosis and promotes cell
            proliferation in hepatocellular carcinoma
  JOURNAL   Future Oncol 16 (34), 2809-2819 (2020)
   PUBMED   33052751
  REMARK    GeneRIF: Syt-7 overexpression predicts poor prognosis and promotes
            cell proliferation in hepatocellular carcinoma.
REFERENCE   4  (residues 1 to 686)
  AUTHORS   Han Q, Zou D, Lv F, Wang S, Yang C, Song J, Wen Z and Zhang Y.
  TITLE     High SYT7 expression is associated with poor prognosis in human
            non-small cell lung carcinoma
  JOURNAL   Pathol Res Pract 216 (9), 153101 (2020)
   PUBMED   32825966
  REMARK    GeneRIF: High SYT7 expression is associated with poor prognosis in
            human non-small cell lung carcinoma.
REFERENCE   5  (residues 1 to 686)
  AUTHORS   Fukuda M, Ogata Y, Saegusa C, Kanno E and Mikoshiba K.
  TITLE     Alternative splicing isoforms of synaptotagmin VII in the mouse,
            rat and human
  JOURNAL   Biochem J 365 (Pt 1), 173-180 (2002)
   PUBMED   12071850
  REMARK    GeneRIF: identified the conserved alternative splicing events in
            the spacer domain of Syt VII; also shown that Syt VIIa-GFP is
            mainly localized in the perinuclear region and tips of neurites
            (dense-core vesicles), and not in the plasma membrane
REFERENCE   6  (residues 1 to 686)
  AUTHORS   Caler EV, Chakrabarti S, Fowler KT, Rao S and Andrews NW.
  TITLE     The Exocytosis-regulatory protein synaptotagmin VII mediates cell
            invasion by Trypanosoma cruzi
  JOURNAL   J Exp Med 193 (9), 1097-1104 (2001)
   PUBMED   11342594
REFERENCE   7  (residues 1 to 686)
  AUTHORS   Mizutani A, Fukuda M, Ibata K, Shiraishi Y and Mikoshiba K.
  TITLE     SYNCRIP, a cytoplasmic counterpart of heterogeneous nuclear
            ribonucleoprotein R, interacts with ubiquitous synaptotagmin
            isoforms
  JOURNAL   J Biol Chem 275 (13), 9823-9831 (2000)
   PUBMED   10734137
REFERENCE   8  (residues 1 to 686)
  AUTHORS   Walker MG, Volkmuth W, Sprinzak E, Hodgson D and Klingler T.
  TITLE     Prediction of gene function by genome-scale expression analysis:
            prostate cancer-associated genes
  JOURNAL   Genome Res 9 (12), 1198-1203 (1999)
   PUBMED   10613842
REFERENCE   9  (residues 1 to 686)
  AUTHORS   Craxton M and Goedert M.
  TITLE     Alternative splicing of synaptotagmins involving transmembrane exon
            skipping
  JOURNAL   FEBS Lett 460 (3), 417-422 (1999)
   PUBMED   10556508
REFERENCE   10 (residues 1 to 686)
  AUTHORS   Cooper PR, Nowak NJ, Higgins MJ, Church DM and Shows TB.
  TITLE     Transcript mapping of the human chromosome 11q12-q13.1 gene-rich
            region identifies several newly described conserved genes
  JOURNAL   Genomics 49 (3), 419-429 (1998)
   PUBMED   9615227
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002754.5, AP003559.3 and
            AP003108.3.
            On Sep 13, 2018 this sequence version replaced XP_005274440.1.
            
            Summary: This gene is a member of the synaptotagmin gene family and
            encodes a protein similar to other family members that mediate
            calcium-dependent regulation of membrane trafficking in synaptic
            transmission. A similar protein in rodents mediates hormone
            secretion and lysosome exocytosis. In humans, expression of this
            gene has been associated with prostate cancer. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, Oct 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000539008.6/ ENSP00000439694.1
            RefSeq Select criteria    :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..686
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.2"
     Protein         1..686
                     /product="synaptotagmin-7 isoform 4"
                     /note="prostate cancer-associated protein 7; synaptotagmin
                     VII"
                     /calculated_mol_wt=75666
     Site            17..37
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43581.3)"
     Site            52
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0N7; propagated from
                     UniProtKB/Swiss-Prot (O43581.3)"
     Site            58
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0N7; propagated from
                     UniProtKB/Swiss-Prot (O43581.3)"
     Site            61
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0N7; propagated from
                     UniProtKB/Swiss-Prot (O43581.3)"
     Region          <143..>310
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          418..542
                     /region_name="C2A_Synaptotagmin-7"
                     /note="C2A domain first repeat present in Synaptotagmin 7;
                     cd08386"
                     /db_xref="CDD:176032"
     Site            order(449,455,508,510,516)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176032"
     Region          550..685
                     /region_name="C2B_Synaptotagmin-7"
                     /note="C2 domain second repeat present in Synaptotagmin 7;
                     cd08405"
                     /db_xref="CDD:176050"
     Site            order(580,586,640,642)
                     /site_type="other"
                     /note="Ca2+ binding pocket [ion binding]"
                     /db_xref="CDD:176050"
     CDS             1..686
                     /gene="SYT7"
                     /gene_synonym="IPCA-7; IPCA7; PCANAP7; SYT-VII; SYTVII"
                     /coded_by="NM_001365809.2:257..2317"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS91487.1"
                     /db_xref="GeneID:9066"
                     /db_xref="HGNC:HGNC:11514"
                     /db_xref="MIM:604146"
ORIGIN      
        1 myrdpeaasp gapsrdvllv saiitvslsv tvvlcglchw cqrklgkryk nsletvgtpd
       61 sgrgrsekka indldrdfwn nnestvqqkw ssyppkefil nispyapygd prlslngtll
      121 sgakvaaaag laveregrlg ekpapvpppg edalrsggaa psepgsggka grgrwrtvqs
      181 hlaagklnls nfedstlsta ttlesipsst gepkcqrprt lmrqqslqqp lsqhqrgrqp
      241 sqpttsqslg qlqahmasap gpnpraygrg qarqgtsags kyraaggrsr snpgswdhvv
      301 gqirnrgldm ksflegrmvv lslvlglseq ddfanipdlq npgtqqnqna qgdkrlpagg
      361 kavntapvpg qtphdesdrr teprssvsdl vnsltsemlm lspgseedea hegcsrenlg
      421 riqfsvgynf qestltvkim kaqelpakdf sgtsdpfvki yllpdkkhkl etkvkrknln
      481 phwnetflfe gfpyekvvqr ilylqvldyd rfsrndpige vsiplnkvdl tqmqtfwkdl
      541 kpcsdgsgsr gelllslcyn psansiivni ikarnlkamd iggtsdpyvk vwlmykdkrv
      601 ekkktvtmkr nlnpifnesf afdipteklr ettiiitvmd kdklsrndvi gkiylswksg
      661 pgevkhwkdm iarprqpvaq whqlka
//
LOCUS       NP_001271235            1068 aa            linear   PRI 28-DEC-2022
DEFINITION  zinc finger protein 106 isoform 2 [Homo sapiens].
ACCESSION   NP_001271235 XP_005254651
VERSION     NP_001271235.1
DBSOURCE    REFSEQ: accession NM_001284306.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1068)
  AUTHORS   van den Berg FF, Issa Y, Vreijling JP, Lerch MM, Weiss FU,
            Besselink MG, Baas F, Boermeester MA and van Santvoort HC.
  CONSRTM   Dutch Pancreatitis Study Group
  TITLE     Whole-exome Sequencing Identifies SLC52A1 and ZNF106 Variants as
            Novel Genetic Risk Factors for (Early) Multiple-organ Failure in
            Acute Pancreatitis
  JOURNAL   Ann Surg 275 (6), e781-e788 (2022)
   PUBMED   33427755
  REMARK    GeneRIF: Whole-exome Sequencing Identifies SLC52A1 and ZNF106
            Variants as Novel Genetic Risk Factors for (Early) Multiple-organ
            Failure in Acute Pancreatitis.
REFERENCE   2  (residues 1 to 1068)
  AUTHORS   Contreras-Martos S, Piai A, Kosol S, Varadi M, Bekesi A, Lebrun P,
            Volkov AN, Gevaert K, Pierattelli R, Felli IC and Tompa P.
  TITLE     Linking functions: an additional role for an intrinsically
            disordered linker domain in the transcriptional coactivator CBP
  JOURNAL   Sci Rep 7 (1), 4676 (2017)
   PUBMED   28680062
  REMARK    GeneRIF: Study identified ZFP106 as a novel substrate for
            CBP-mediated acetylation, and showed that the fully disordered
            isolated ID3 in CREBBP transiently interacts with an IDR of ZFP106
            in a fashion that both IDR regions are maintained.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1068)
  AUTHORS   Grasberger H, Ye H, Mashima H and Bell GI.
  TITLE     Dual promoter structure of ZFP106: regulation by myogenin and
            nuclear respiratory factor-1
  JOURNAL   Gene 344, 143-159 (2005)
   PUBMED   15656981
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012651.8.
            On Sep 27, 2013 this sequence version replaced XP_005254651.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL831983.1, SRR14038197.2632392.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1068
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     Protein         1..1068
                     /product="zinc finger protein 106 isoform 2"
                     /note="SH3-domain binding protein 3; zinc finger protein
                     474"
                     /calculated_mol_wt=117485
     Region          710..987
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(715,731,735,741..742,754..755,776,780,786..787,799,
                     814,819,825..826,839,859,864,870..871,883..884,900,904,
                     910..911,923..924,939,944,950..951,963..964,980,984)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          760..799
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          803..837
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          845..882
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          888..922
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          930..962
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          968..988
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..1068
                     /gene="ZNF106"
                     /gene_synonym="SH3BP3; ZFP106; ZNF474"
                     /coded_by="NM_001284306.2:330..3536"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS61602.1"
                     /db_xref="GeneID:64397"
                     /db_xref="HGNC:HGNC:12886"
ORIGIN      
        1 mvplvqneqe aldldgepdl sslegfqweg vsissspgla rkrslsessv imdrapsvys
       61 ffseegtgke nepqqmvsps nslragqsqk atmhlkqevt praaslrtge raenvatqrr
      121 hsaqlssdhi iplmhlakdl nsqersipps enqnsqesng egnclsssas salaisslad
      181 aatdssctsg aeqndgqsir kkrratgdgs spelpslerk nkrrkikgkk ersqvdqlln
      241 islreeelsk slqcmdnnll qaraalqtay vevqrllmlk qqitmemsal rthriqilqg
      301 lqetyepseh pdqvpcsltr errnsrsqts idaallptpf fplfleppss hvspsptgas
      361 lqittsptfq thgsvpapds svqikqepms peqdenvnav ppssacnvsk elleanreis
      421 dscpvypvit arlslpeste sfhepsqelk fsveqrntrn renspssqsa glssinkege
      481 eptkgnsgse actssflrls fasetpleke phspadqpeq qaestltsae trgskkkkkl
      541 rkkkslraah vpensdteqd vltvkpvrkv kagklikggk vttstwedsr tgreqesvrd
      601 epdsdsslev leipnpqlev vaidssesge ekpdspskkd iwnsteqnpl etsrsgcdev
      661 sstseigtry kdgipvsvae tqtvissikg sknsseisse pgdddepteg sfeghqaavn
      721 aiqifgnlly tcsadktvrv ynlvsrkcig vfeghtskvn cllvtqtsgk naalytgssd
      781 htircynvks recveqlqle drvlclhsrw rilyaglang tvvtfniknn krleifechg
      841 pravsclata qegarkllvv gsydctisvr darnglllrt leghsktilc mkvvndlvfs
      901 gssdqsvhah nihtgelvri ykghnhavtv vnilgkvmvt acldkfvrvy elqshdrlqv
      961 ygghkdmimc mtihksmiyt gcydgsiqav rlnlmqnyrc wwhgcslifg vvdhlkqhll
     1021 tdhtnpnfqt lkcrwkncda fftarkgskq daaghierha eddskids
//
LOCUS       NP_001273113             322 aa            linear   PRI 29-DEC-2022
DEFINITION  solute carrier family 25 member 44 isoform 1 [Homo sapiens].
ACCESSION   NP_001273113 XP_005245683
VERSION     NP_001273113.1
DBSOURCE    REFSEQ: accession NM_001286184.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 322)
  AUTHORS   Darbani B.
  TITLE     Genome Evolutionary Dynamics Meets Functional Genomics: A Case
            Story on the Identification of SLC25A44
  JOURNAL   Int J Mol Sci 22 (11), 5669 (2021)
   PUBMED   34073512
  REMARK    GeneRIF: Genome Evolutionary Dynamics Meets Functional Genomics: A
            Case Story on the Identification of SLC25A44.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 322)
  AUTHORS   Goldstein O, Gana-Weisz M, Attar R, Bar-Shira A, Lederkremer M,
            Shiner T, Thaler A, Mirelman A, Giladi N and Orr-Urtreger A.
  TITLE     The GBA-370Rec Parkinson's disease risk haplotype harbors a
            potentially pathogenic variant in the mitochondrial gene SLC25A44
  JOURNAL   Mol Genet Metab 133 (1), 109-112 (2021)
   PUBMED   33762134
  REMARK    GeneRIF: The GBA-370Rec Parkinson's disease risk haplotype harbors
            a potentially pathogenic variant in the mitochondrial gene
            SLC25A44.
REFERENCE   3  (residues 1 to 322)
  AUTHORS   Yoneshiro T, Wang Q, Tajima K, Matsushita M, Maki H, Igarashi K,
            Dai Z, White PJ, McGarrah RW, Ilkayeva OR, Deleye Y, Oguri Y,
            Kuroda M, Ikeda K, Li H, Ueno A, Ohishi M, Ishikawa T, Kim K, Chen
            Y, Sponton CH, Pradhan RN, Majd H, Greiner VJ, Yoneshiro M, Brown
            Z, Chondronikola M, Takahashi H, Goto T, Kawada T, Sidossis L,
            Szoka FC, McManus MT, Saito M, Soga T and Kajimura S.
  TITLE     BCAA catabolism in brown fat controls energy homeostasis through
            SLC25A44
  JOURNAL   Nature 572 (7771), 614-619 (2019)
   PUBMED   31435015
REFERENCE   4  (residues 1 to 322)
  AUTHORS   Woo D, Falcone GJ, Devan WJ, Brown WM, Biffi A, Howard TD, Anderson
            CD, Brouwers HB, Valant V, Battey TW, Radmanesh F, Raffeld MR,
            Baedorf-Kassis S, Deka R, Woo JG, Martin LJ, Haverbusch M, Moomaw
            CJ, Sun G, Broderick JP, Flaherty ML, Martini SR, Kleindorfer DO,
            Kissela B, Comeau ME, Jagiella JM, Schmidt H, Freudenberger P,
            Pichler A, Enzinger C, Hansen BM, Norrving B, Jimenez-Conde J,
            Giralt-Steinhauer E, Elosua R, Cuadrado-Godia E, Soriano C, Roquer
            J, Kraft P, Ayres AM, Schwab K, McCauley JL, Pera J, Urbanik A,
            Rost NS, Goldstein JN, Viswanathan A, Stogerer EM, Tirschwell DL,
            Selim M, Brown DL, Silliman SL, Worrall BB, Meschia JF, Kidwell CS,
            Montaner J, Fernandez-Cadenas I, Delgado P, Malik R, Dichgans M,
            Greenberg SM, Rothwell PM, Lindgren A, Slowik A, Schmidt R,
            Langefeld CD and Rosand J.
  CONSRTM   International Stroke Genetics Consortium
  TITLE     Meta-analysis of genome-wide association studies identifies 1q22 as
            a susceptibility locus for intracerebral hemorrhage
  JOURNAL   Am J Hum Genet 94 (4), 511-521 (2014)
   PUBMED   24656865
REFERENCE   5  (residues 1 to 322)
  AUTHORS   Ruark E, Seal S, McDonald H, Zhang F, Elliot A, Lau K, Perdeaux E,
            Rapley E, Eeles R, Peto J, Kote-Jarai Z, Muir K, Nsengimana J,
            Shipley J, Bishop DT, Stratton MR, Easton DF, Huddart RA, Rahman N
            and Turnbull C.
  CONSRTM   UK Testicular Cancer Collaboration (UKTCC)
  TITLE     Identification of nine new susceptibility loci for testicular
            cancer, including variants near DAZL and PRDM14
  JOURNAL   Nat Genet 45 (6), 686-689 (2013)
   PUBMED   23666240
REFERENCE   6  (residues 1 to 322)
  AUTHORS   Palmieri F.
  TITLE     The mitochondrial transporter family SLC25: identification,
            properties and physiopathology
  JOURNAL   Mol Aspects Med 34 (2-3), 465-484 (2013)
   PUBMED   23266187
  REMARK    GeneRIF: Compares and contrasts all the known human SLC25A* genes
            and includes functional information.
            Review article
REFERENCE   7  (residues 1 to 322)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 322)
  AUTHORS   Haitina T, Lindblom J, Renstrom T and Fredriksson R.
  TITLE     Fourteen novel human members of mitochondrial solute carrier family
            25 (SLC25) widely expressed in the central nervous system
  JOURNAL   Genomics 88 (6), 779-790 (2006)
   PUBMED   16949250
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL135927.14, AB007915.3 and BC008843.2.
            On Oct 31, 2013 this sequence version replaced XP_005245683.1.
            
            Summary: SLC25A44 belongs to the SLC25 family of mitochondrial
            carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied
            by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB007915.3, SRR18074969.1946202.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..322
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     Protein         1..322
                     /product="solute carrier family 25 member 44 isoform 1"
                     /calculated_mol_wt=36185
     Region          <35..105
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          105..204
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          235..310
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     CDS             1..322
                     /gene="SLC25A44"
                     /coded_by="NM_001286184.2:158..1126"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS72943.1"
                     /db_xref="GeneID:9673"
                     /db_xref="HGNC:HGNC:29036"
                     /db_xref="MIM:610824"
ORIGIN      
        1 medkrniqii ewehldkkkf yvfgvamtmm irvsvypftl irtrlqvqkg kslyhgtfda
       61 fikilradgi tglyrgflvn tftlisgqcy vttyeltrkf vadysqsntv kslvaggsas
      121 lvaqsitvpi dvvsqhlmmq rkgekmgrfq vrgnpegqgv vafgqtkdii rqilqadglr
      181 gfyrgyvasl ltyipnsavw wpfyhfyaai vfpwipeqls ylcpkecphi vfqavsgpla
      241 aatasiltnp mdvirtrvqv egknsiiltf rqlmaeegpw glmkglsari isatpstivi
      301 vvgyeslkkl slrpelvdsr hw
//
LOCUS       NP_001177793             194 aa            linear   PRI 29-DEC-2022
DEFINITION  28S ribosomal protein S35, mitochondrial isoform 2 precursor [Homo
            sapiens].
ACCESSION   NP_001177793
VERSION     NP_001177793.1
DBSOURCE    REFSEQ: accession NM_001190864.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 194)
  AUTHORS   Greber BJ and Ban N.
  TITLE     Structure and Function of the Mitochondrial Ribosome
  JOURNAL   Annu Rev Biochem 85, 103-132 (2016)
   PUBMED   27023846
  REMARK    Review article
REFERENCE   2  (residues 1 to 194)
  AUTHORS   Amunts A, Brown A, Toots J, Scheres SHW and Ramakrishnan V.
  TITLE     Ribosome. The structure of the human mitochondrial ribosome
  JOURNAL   Science 348 (6230), 95-98 (2015)
   PUBMED   25838379
REFERENCE   3  (residues 1 to 194)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   4  (residues 1 to 194)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 194)
  AUTHORS   Ishiguchi H, Izumi H, Torigoe T, Yoshida Y, Kubota H, Tsuji S and
            Kohno K.
  TITLE     ZNF143 activates gene expression in response to DNA damage and
            binds to cisplatin-modified DNA
  JOURNAL   Int J Cancer 111 (6), 900-909 (2004)
   PUBMED   15300802
REFERENCE   6  (residues 1 to 194)
  AUTHORS   Zhang Z and Gerstein M.
  TITLE     Identification and characterization of over 100 mitochondrial
            ribosomal protein pseudogenes in the human genome
  JOURNAL   Genomics 81 (5), 468-480 (2003)
   PUBMED   12706105
REFERENCE   7  (residues 1 to 194)
  AUTHORS   Cavdar Koc E, Burkhart W, Blackburn K, Moseley A and Spremulli LL.
  TITLE     The small subunit of the mammalian mitochondrial ribosome.
            Identification of the full complement of ribosomal proteins present
  JOURNAL   J Biol Chem 276 (22), 19363-19374 (2001)
   PUBMED   11279123
REFERENCE   8  (residues 1 to 194)
  AUTHORS   Koc EC, Burkhart W, Blackburn K, Koc H, Moseley A and Spremulli LL.
  TITLE     Identification of four proteins from the small subunit of the
            mammalian mitochondrial ribosome using a proteomics approach
  JOURNAL   Protein Sci 10 (3), 471-481 (2001)
   PUBMED   11344316
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA747094.1, AK075378.1 and
            BC015862.1.
            
            Summary: Mammalian mitochondrial ribosomal proteins are encoded by
            nuclear genes and help in protein synthesis within the
            mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a
            small 28S subunit and a large 39S subunit. They have an estimated
            75% protein to rRNA composition compared to prokaryotic ribosomes,
            where this ratio is reversed. Another difference between mammalian
            mitoribosomes and prokaryotic ribosomes is that the latter contain
            a 5S rRNA. Among different species, the proteins comprising the
            mitoribosome differ greatly in sequence, and sometimes in
            biochemical properties, which prevents easy recognition by sequence
            homology. This gene encodes a 28S subunit protein that has had
            confusing nomenclature in the literature. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. Pseudogenes corresponding to this gene are found on
            chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010].
            
            Transcript Variant: This variant (2) is missing an internal coding
            exon compared to variant 1. This results in a frame-shift, and a
            shorter isoform (2) with a distinct C-terminus compared to isoform
            1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1877717.1, AK075378.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..194
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.22"
     Protein         1..194
                     /product="28S ribosomal protein S35, mitochondrial isoform
                     2 precursor"
                     /note="mitochondrial ribosomal protein S28; 28S ribosomal
                     protein S35, mitochondrial; S28mt; S35mt; MRP-S35; 28S
                     ribosomal protein S28, mitochondrial; mitochondrial small
                     ribosomal subunit protein mS35"
                     /calculated_mol_wt=21259
     CDS             1..194
                     /gene="MRPS35"
                     /gene_synonym="HDCMD11P; MDS023; MRP-S28; MRPS28"
                     /coded_by="NM_001190864.2:13..597"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS53769.1"
                     /db_xref="GeneID:60488"
                     /db_xref="HGNC:HGNC:16635"
                     /db_xref="MIM:611995"
ORIGIN      
        1 maaaalpawl slqsrartlr afstavysat pvptpslper tpgnerpprr kalpprtekm
       61 avdqdwpsvy pvaapfkpsa vplpvrmgyp vkkgvpmake gnlellkipn flhltpvaik
      121 khcealkdfc tewpaaldsd ekcekhfpie idstdyvssg psvrnprarv vvlrvpfkea
      181 elrlcsvstn svip
//
LOCUS       NP_001364866            1056 aa            linear   PRI 29-DEC-2022
DEFINITION  rap guanine nucleotide exchange factor 1 isoform f [Homo sapiens].
ACCESSION   NP_001364866
VERSION     NP_001364866.1
DBSOURCE    REFSEQ: accession NM_001377937.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1056)
  AUTHORS   Pagano L, Malagrino F, Nardella C, Gianni S and Toto A.
  TITLE     Experimental Characterization of the Interaction between the
            N-Terminal SH3 Domain of Crkl and C3G
  JOURNAL   Int J Mol Sci 22 (24), 13174 (2021)
   PUBMED   34947971
  REMARK    GeneRIF: Experimental Characterization of the Interaction between
            the N-Terminal SH3 Domain of Crkl and C3G.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1056)
  AUTHORS   Li N, Zhou P, Yang M, Fang X, Kramer N, Mughal TA, Abbasi AA, Yang
            Y, Kaindl AM and Hu H.
  TITLE     Zebrafish modeling mimics developmental phenotype of patients with
            RAPGEF1 mutation
  JOURNAL   Clin Genet 100 (2), 144-155 (2021)
   PUBMED   33834495
  REMARK    GeneRIF: Zebrafish modeling mimics developmental phenotype of
            patients with RAPGEF1 mutation.
REFERENCE   3  (residues 1 to 1056)
  AUTHORS   Sriram D, Dayma K, Devi AS, Raghawan AK, Rawat S and Radha V.
  TITLE     Complex formation and reciprocal regulation between GSK3beta and
            C3G
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1868 (5), 118964 (2021)
   PUBMED   33450305
  REMARK    GeneRIF: Complex formation and reciprocal regulation between
            GSK3beta and C3G.
REFERENCE   4  (residues 1 to 1056)
  AUTHORS   Carabias A, Gomez-Hernandez M, de Cima S, Rodriguez-Blazquez A,
            Moran-Vaquero A, Gonzalez-Saenz P, Guerrero C and de Pereda JM.
  TITLE     Mechanisms of autoregulation of C3G, activator of the GTPase Rap1,
            and its catalytic deregulation in lymphomas
  JOURNAL   Sci Signal 13 (647) (2020)
   PUBMED   32873726
  REMARK    GeneRIF: Mechanisms of autoregulation of C3G, activator of the
            GTPase Rap1, and its catalytic deregulation in lymphomas.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1056)
  AUTHORS   Nayak SC and Radha V.
  TITLE     C3G localizes to the mother centriole in a cenexin-dependent manner
            and regulates centrosome duplication and primary cilium length
  JOURNAL   J Cell Sci 133 (11) (2020)
   PUBMED   32371504
  REMARK    GeneRIF: C3G localizes to the mother centriole in a
            cenexin-dependent manner and regulates centrosome duplication and
            primary cilium length.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1056)
  AUTHORS   Smit L, van der Horst G and Borst J.
  TITLE     Sos, Vav, and C3G participate in B cell receptor-induced signaling
            pathways and differentially associate with Shc-Grb2, Crk, and Crk-L
            adaptors
  JOURNAL   J Biol Chem 271 (15), 8564-8569 (1996)
   PUBMED   8621483
REFERENCE   7  (residues 1 to 1056)
  AUTHORS   Gotoh T, Hattori S, Nakamura S, Kitayama H, Noda M, Takai Y,
            Kaibuchi K, Matsui H, Hatase O, Takahashi H et al.
  TITLE     Identification of Rap1 as a target for the Crk SH3 domain-binding
            guanine nucleotide-releasing factor C3G
  JOURNAL   Mol Cell Biol 15 (12), 6746-6753 (1995)
   PUBMED   8524240
REFERENCE   8  (residues 1 to 1056)
  AUTHORS   Knudsen BS, Feller SM and Hanafusa H.
  TITLE     Four proline-rich sequences of the guanine-nucleotide exchange
            factor C3G bind with unique specificity to the first Src homology 3
            domain of Crk
  JOURNAL   J Biol Chem 269 (52), 32781-32787 (1994)
   PUBMED   7806500
REFERENCE   9  (residues 1 to 1056)
  AUTHORS   Takai S, Tanaka M, Sugimura H, Yamada K, Naito Y, Kino I and
            Matsuda M.
  TITLE     Mapping of the human C3G gene coding a guanine nucleotide releasing
            protein for Ras family to 9q34.3 by fluorescence in situ
            hybridization
  JOURNAL   Hum Genet 94 (5), 549-550 (1994)
   PUBMED   7959692
REFERENCE   10 (residues 1 to 1056)
  AUTHORS   Tanaka S, Morishita T, Hashimoto Y, Hattori S, Nakamura S, Shibuya
            M, Matuoka K, Takenawa T, Kurata T, Nagashima K et al.
  TITLE     C3G, a guanine nucleotide-releasing protein expressed ubiquitously,
            binds to the Src homology 3 domains of CRK and GRB2/ASH proteins
  JOURNAL   Proc Natl Acad Sci U S A 91 (8), 3443-3447 (1994)
   PUBMED   7512734
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL160271.19 and AL160276.21.
            
            Summary: This gene encodes a human guanine nucleotide exchange
            factor. It transduces signals from CRK by binding the SH3 domain of
            CRK, and activating several members of the Ras family of GTPases.
            This signaling cascade that may be involved in apoptosis,
            integrin-mediated signal transduction, and cell transformation.
            Several alternatively spliced transcript variants of this gene have
            been described, but the full-length nature of some variants has not
            been determined. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1056
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13"
     Protein         1..1056
                     /product="rap guanine nucleotide exchange factor 1 isoform
                     f"
                     /note="guanine nucleotide-releasing factor 2 (specific for
                     crk proto-oncogene); CRK SH3-binding GNRP; Rap guanine
                     nucleotide exchange factor (GEF) 1"
                     /calculated_mol_wt=117877
     Region          <190..448
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          667..808
                     /region_name="RasGEFN"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     GTPases; N-terminal motif; smart00229"
                     /db_xref="CDD:214571"
     Site            order(686,731,735..736,739,742..743,779..780,783)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:100121"
     Region          815..1044
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases; smart00147"
                     /db_xref="CDD:214539"
     Site            order(845..847,858..859,861..863,865..866,869..870,873,
                     906,909..910,912..914,916..919,921..922,937,940,945..947,
                     950,963..965,968..970,972..974,976..979,993,997,1031,
                     1034..1035)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     CDS             1..1056
                     /gene="RAPGEF1"
                     /gene_synonym="C3G; GRF2"
                     /coded_by="NM_001377937.1:247..3417"
                     /note="isoform f is encoded by transcript variant 6"
                     /db_xref="GeneID:2889"
                     /db_xref="HGNC:HGNC:4568"
                     /db_xref="MIM:600303"
ORIGIN      
        1 msgglglrrs pemsgkieka dsqrshlssf tmklmdkfhs pkikrtpskk gkpaevsvki
       61 pekpvnknls wleekekevv salryfktiv dkmaidkkvl emlpgsaskv leailplvqn
      121 dpriqhssal sscysrvyqs lanlirwsdq vmlegvnsed kemvttvkgv ikavldgvke
      181 lvrltiekqg rpsptspvkp sspaskpdgp aelpltdrev eilnkttgms qstellpdat
      241 deevappkpp lpgirvvdns pppalppkkr qsapsptrva vvapmsrats gsslpvginr
      301 qdfdvdcyaq rrlsggshsy ggesprlspc ssigklsksd eqlssldrds gqcsrntsce
      361 tldhydpdye flqqdlsnad qipqqtawnl splpeslges gspflgppfq lplgghpqpd
      421 gplapgqqtd tppalpekkr rsaasqtadg sgcrvsyerh psqydnisge dlqstapips
      481 vpyapfaail pfqhggssap vefvgdftap estgdpekpp plpekknkhm laymqlledy
      541 sepqpsmfyq tpqnehiyqq knkllmevyg fsdsfsgvds vqelapppal ppkqrqlepp
      601 agkdghprdp savsgvpgkd srdgserapk spdalesaqs eeevdelsli dhneimsrlt
      661 lkqegddgpd vrggsgdill vhatetdrkd lvlyceaflt tyrtfispee likklqyrye
      721 kfspfadtfk krvskntffv lvrvvdelcl velteeilkl lmelvfrlvc ngelslarvl
      781 rknildkvdq kkllrcatss qplaargvaa rpgtlhdfhs heiaeqltll daelfykiei
      841 pevllwakeq neekspnltq ftehfnnmsy wvrsiimlqe kaqdrerlll kfikimkhlr
      901 klnnfnsyla ilsaldsapi rrlewqkqts eglaeyctli dssssfrayr aalseveppc
      961 ipylglilqd ltfvhlgnpd yidgkvnfsk rwqqfnilds mrcfqqahyd mrrnddiinf
     1021 fndfsdhlae ealwelslki kprnitrrkt dreekt
//
LOCUS       NP_001299849             329 aa            linear   PRI 30-DEC-2022
DEFINITION  myb/SANT-like DNA-binding domain-containing protein 2 isoform 2
            [Homo sapiens].
ACCESSION   NP_001299849
VERSION     NP_001299849.1
DBSOURCE    REFSEQ: accession NM_001312920.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 329)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   2  (residues 1 to 329)
  AUTHORS   Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G,
            Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK,
            Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek
            WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT,
            McManus R, van Heel DA and Wijmenga C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL512691.1, BC064919.1 and AK026995.1.
            
            Transcript Variant: This variant (5) contains alternate 5' exon
            structure, and it thus differs in the 5' UTR and initiates
            translation at a downstream in-frame start codon, compared to
            variant 3. The encoded isoform (2) is shorter at the N-terminus,
            compared to isoform 3. Variants 5-8 all encode the same isoform
            (2).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL512691.1, AK092413.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..329
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     Protein         1..329
                     /product="myb/SANT-like DNA-binding domain-containing
                     protein 2 isoform 2"
                     /note="myb/SANT-like DNA-binding domain-containing protein
                     2; Myb/SANT-like DNA-binding domain containing 2"
                     /calculated_mol_wt=37874
     CDS             1..329
                     /gene="MSANTD2"
                     /gene_synonym="C11orf61"
                     /coded_by="NM_001312920.2:1449..2438"
                     /note="isoform 2 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS73408.1"
                     /db_xref="GeneID:79684"
                     /db_xref="HGNC:HGNC:26266"
ORIGIN      
        1 medysqedwg nhsqdlhgyp tdqeldeipv tkrtlkikqe sseeaqkrdi mqnivqiles
       61 vqlkwelfqs wtdfsrlhls nklaifgigy ntrwkediry hyaeissqvp lgkrlreyfn
      121 sekpegriim trvqkmnwkn vyykfleiti searclelhm eidwipiahs kptggnvvqy
      181 llpggipksp glyaigyeec ierplsphme qssldpgkeg rvdletlsaq aslqveiept
      241 riiycylgia evrtlqqclf lhfqantktf skdwvgingf lsqncivdpg vspksiyikf
      301 veverdflsa gslvecleka igyplkfnn
//
LOCUS       NP_001006115             276 aa            linear   PRI 30-DEC-2022
DEFINITION  inositol hexakisphosphate kinase 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001006115
VERSION     NP_001006115.1
DBSOURCE    REFSEQ: accession NM_001006115.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 276)
  AUTHORS   Shah A and Bhandari R.
  TITLE     IP6K1 upregulates the formation of processing bodies by influencing
            protein-protein interactions on the mRNA cap
  JOURNAL   J Cell Sci 134 (24) (2021)
   PUBMED   34841428
  REMARK    GeneRIF: IP6K1 upregulates the formation of processing bodies by
            influencing protein-protein interactions on the mRNA cap.
REFERENCE   2  (residues 1 to 276)
  AUTHORS   Mukherjee S, Chakraborty M, Ulmasov B, McCommis K, Zhang J,
            Carpenter D, Msengi EN, Haubner J, Guo C, Pike DP, Ghoshal S, Ford
            DA, Neuschwander-Tetri BA and Chakraborty A.
  TITLE     Pleiotropic actions of IP6K1 mediate hepatic metabolic dysfunction
            to promote nonalcoholic fatty liver disease and steatohepatitis
  JOURNAL   Mol Metab 54, 101364 (2021)
   PUBMED   34757046
  REMARK    GeneRIF: Pleiotropic actions of IP6K1 mediate hepatic metabolic
            dysfunction to promote nonalcoholic fatty liver disease and
            steatohepatitis.
REFERENCE   3  (residues 1 to 276)
  AUTHORS   Minini M, Senni A, He X, Proietti S, Liguoro D, Catizone A,
            Giuliani A, Mancini R, Fuso A, Cucina A, Cao Y and Bizzarri M.
  TITLE     miR-125a-5p impairs the metastatic potential in breast cancer via
            IP6K1 targeting
  JOURNAL   Cancer Lett 520, 48-56 (2021)
   PUBMED   34229060
  REMARK    GeneRIF: miR-125a-5p impairs the metastatic potential in breast
            cancer via IP6K1 targeting.
REFERENCE   4  (residues 1 to 276)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 276)
  AUTHORS   Wilson MS, Jessen HJ and Saiardi A.
  TITLE     The inositol hexakisphosphate kinases IP6K1 and -2 regulate human
            cellular phosphate homeostasis, including XPR1-mediated phosphate
            export
  JOURNAL   J Biol Chem 294 (30), 11597-11608 (2019)
   PUBMED   31186349
  REMARK    GeneRIF: conclude that IP6K1 and -2 together control inositol
            pyrophosphate metabolism and thereby physiologically regulate
            phosphate export and other aspects of mammalian cellular phosphate
            homeostasis
REFERENCE   6  (residues 1 to 276)
  AUTHORS   Saiardi A, Nagata E, Luo HR, Snowman AM and Snyder SH.
  TITLE     Identification and characterization of a novel inositol
            hexakisphosphate kinase
  JOURNAL   J Biol Chem 276 (42), 39179-39185 (2001)
   PUBMED   11502751
REFERENCE   7  (residues 1 to 276)
  AUTHORS   Saiardi A, Caffrey JJ, Snyder SH and Shears SB.
  TITLE     The inositol hexakisphosphate kinase family. Catalytic flexibility
            and function in yeast vacuole biogenesis
  JOURNAL   J Biol Chem 275 (32), 24686-24692 (2000)
   PUBMED   10827188
REFERENCE   8  (residues 1 to 276)
  AUTHORS   Schell MJ, Letcher AJ, Brearley CA, Biber J, Murer H and Irvine RF.
  TITLE     PiUS (Pi uptake stimulator) is an inositol hexakisphosphate kinase
  JOURNAL   FEBS Lett 461 (3), 169-172 (1999)
   PUBMED   10567691
REFERENCE   9  (residues 1 to 276)
  AUTHORS   Saiardi A, Erdjument-Bromage H, Snowman AM, Tempst P and Snyder SH.
  TITLE     Synthesis of diphosphoinositol pentakisphosphate by a newly
            identified family of higher inositol polyphosphate kinases
  JOURNAL   Curr Biol 9 (22), 1323-1326 (1999)
   PUBMED   10574768
REFERENCE   10 (residues 1 to 276)
  AUTHORS   White KE and Econs MJ.
  TITLE     Localization of PiUS, a stimulator of cellular phosphate uptake to
            human chromosome 3p21.3
  JOURNAL   Somat Cell Mol Genet 24 (1), 71-74 (1998)
   PUBMED   9776982
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139451.7, BG720032.1,
            AL561521.3, D87452.2, BI193048.1, CB152138.1, BE387671.1 and
            AC099668.2.
            
            Summary: This gene encodes a member of the inositol phosphokinase
            family. The encoded protein may be responsible for the conversion
            of inositol hexakisphosphate (InsP6) to diphosphoinositol
            pentakisphosphate (InsP7/PP-InsP5). It may also convert
            1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively
            spliced transcript variants have been described. [provided by
            RefSeq, Jun 2011].
            
            Transcript Variant: This variant (2) lacks an in-frame portion of
            the 5' coding region compared to variant 1. The resulting isoform
            (2) has a shorter N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1864904.1,
                                           SRR11853566.19525.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145774 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..276
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..276
                     /product="inositol hexakisphosphate kinase 1 isoform 2"
                     /EC_number="2.7.4.21"
                     /note="inositol hexaphosphate kinase 1; Pi uptake
                     stimulator; insP6 kinase 1;
                     ATP:1D-myo-inositol-hexakisphosphate phosphotransferase"
                     /calculated_mol_wt=31393
     Region          42..269
                     /region_name="IPK"
                     /note="Inositol polyphosphate kinase; pfam03770"
                     /db_xref="CDD:397715"
     CDS             1..276
                     /gene="IP6K1"
                     /gene_synonym="IHPK1; PiUS"
                     /coded_by="NM_001006115.3:462..1292"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS43092.1"
                     /db_xref="GeneID:9807"
                     /db_xref="HGNC:HGNC:18360"
                     /db_xref="MIM:606991"
ORIGIN      
        1 mldgnsglss ekishnpwsl rchkqqlsrm rseskdrkly kflllenvvh hfkypcvldl
       61 kmgtrqhgdd asaekaarqm rkceqstsat lgvrvcgmqv yqldtghylc rnkyygrgls
      121 iegfrnalyq ylhngldlrr dlfepilskl rglkavlerq asyrfysssl lviydgkecr
      181 aescldrrse mrlkhldmvl pevasscgps tspsntspea gpssqpkvdv rmidfahstf
      241 kgfrddptvh dgpdrgyvfg lenlisimeq mrdenq
//
LOCUS       NP_001381008             565 aa            linear   PRI 31-DEC-2022
DEFINITION  sodium/myo-inositol cotransporter 2 isoform 13 [Homo sapiens].
ACCESSION   NP_001381008
VERSION     NP_001381008.1
DBSOURCE    REFSEQ: accession NM_001394079.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 565)
  AUTHORS   Chung SA, Brown EE, Williams AH, Ramos PS, Berthier CC, Bhangale T,
            Alarcon-Riquelme ME, Behrens TW, Criswell LA, Graham DC, Demirci
            FY, Edberg JC, Gaffney PM, Harley JB, Jacob CO, Kamboh MI, Kelly
            JA, Manzi S, Moser-Sivils KL, Russell LP, Petri M, Tsao BP, Vyse
            TJ, Zidovetzki R, Kretzler M, Kimberly RP, Freedman BI, Graham RR
            and Langefeld CD.
  CONSRTM   International Consortium for Systemic Lupus Erythematosus Genetics
  TITLE     Lupus nephritis susceptibility loci in women with systemic lupus
            erythematosus
  JOURNAL   J Am Soc Nephrol 25 (12), 2859-2870 (2014)
   PUBMED   24925725
REFERENCE   2  (residues 1 to 565)
  AUTHORS   Shin SY, Fauman EB, Petersen AK, Krumsiek J, Santos R, Huang J,
            Arnold M, Erte I, Forgetta V, Yang TP, Walter K, Menni C, Chen L,
            Vasquez L, Valdes AM, Hyde CL, Wang V, Ziemek D, Roberts P, Xi L,
            Grundberg E, Waldenberger M, Richards JB, Mohney RP, Milburn MV,
            John SL, Trimmer J, Theis FJ, Overington JP, Suhre K, Brosnan MJ,
            Gieger C, Kastenmuller G, Spector TD and Soranzo N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   3  (residues 1 to 565)
  AUTHORS   Deng X, Sabino EC, Cunha-Neto E, Ribeiro AL, Ianni B, Mady C, Busch
            MP and Seielstad M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 565)
  AUTHORS   Lin X, Ma L, Fitzgerald RL and Ostlund RE Jr.
  TITLE     Human sodium/inositol cotransporter 2 (SMIT2) transports inositols
            but not glucose in L6 cells
  JOURNAL   Arch Biochem Biophys 481 (2), 197-201 (2009)
   PUBMED   19032932
REFERENCE   5  (residues 1 to 565)
  AUTHORS   Tsai LJ, Hsiao SH, Tsai LM, Lin CY, Tsai JJ, Liou DM and Lan JL.
  TITLE     The sodium-dependent glucose cotransporter SLC5A11 as an autoimmune
            modifier gene in SLE
  JOURNAL   Tissue Antigens 71 (2), 114-126 (2008)
   PUBMED   18069935
  REMARK    GeneRIF: SLC5A11 is involved with some immune effects and interacts
            with immune-related gene(s); it is consistent with its function as
            an autoimmune modifier gene.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 565)
  AUTHORS   Coady MJ, Wallendorff B, Gagnon DG and Lapointe JY.
  TITLE     Identification of a novel Na+/myo-inositol cotransporter
  JOURNAL   J Biol Chem 277 (38), 35219-35224 (2002)
   PUBMED   12133831
REFERENCE   7  (residues 1 to 565)
  AUTHORS   Roll P, Massacrier A, Pereira S, Robaglia-Schlupp A, Cau P and
            Szepetowski P.
  TITLE     New human sodium/glucose cotransporter gene (KST1): identification,
            characterization, and mutation analysis in ICCA (infantile
            convulsions and choreoathetosis) and BFIC (benign familial
            infantile convulsions) families
  JOURNAL   Gene 285 (1-2), 141-148 (2002)
   PUBMED   12039040
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008731.8 and KC877600.1.
            
            Summary: Cotransporters, such as SLC5A11, represent a major class
            of proteins that make use of ion gradients to drive active
            transport for the cellular accumulation of nutrients,
            neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed
            12039040].[supplied by OMIM, Mar 2008].
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1660809.253097.1, SRR1803616.69046.1
                                    [ECO:0000331]
            RNAseq introns       :: partial sample support SAMEA2145743,
                                    SAMEA2157437 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..565
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.1"
     Protein         1..565
                     /product="sodium/myo-inositol cotransporter 2 isoform 13"
                     /note="putative sodium-coupled cotransporter RKST1; solute
                     carrier family 5 (sodium/glucose cotransporter), member
                     11; homolog of rabbit KST1; sodium/myo-inositol
                     cotransporter 2; sodium/glucose cotransporter KST1;
                     sodium-dependent glucose cotransporter; Na(+)/myo-inositol
                     cotransporter 2; sodium/myo-inositol transporter 2; solute
                     carrier family 5 (sodium/inositol cotransporter), member
                     11"
                     /calculated_mol_wt=62459
     Region          1..565
                     /region_name="SLC5-6-like_sbd"
                     /note="Solute carrier families 5 and 6-like; solute
                     binding domain; cl00456"
                     /db_xref="CDD:444915"
     CDS             1..565
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /coded_by="NM_001394079.1:381..2078"
                     /note="isoform 13 is encoded by transcript variant 28"
                     /db_xref="GeneID:115584"
                     /db_xref="HGNC:HGNC:23091"
                     /db_xref="MIM:610238"
ORIGIN      
        1 mlawiflpiy iagqvttmpe ylrkrfggir ipiilavlyl fiyiftkisv dmyagaifiq
       61 qslhldlyla ivgllaitav ytvagglaav iytdalqtli mligaltlmg ysfaavggme
      121 glkekyflal asnrsenssc glpredafhi frdpltsdlp wpgvlfgmsi pslwywctdq
      181 vivqrtlaak nlshakggal maaylkvlpl fimvfpgmvs rilfpdqvac adpeicqkic
      241 snpsgcsdia ypklvlellp tglrglmmav mvaalmsslt sifnsastif tmdlwnhlrp
      301 rasekelmiv grvfvlllvl vsilwipvvq asqggqlfiy iqsissylqp pvavvfimgc
      361 fwkrtnekga fwglisglll glvrlvldfi yvqprcdqpd erpvlvksih ylyfsmilst
      421 vtlitvstvs wfteppskem vshltwftrh dpvvqkeqap paaplsltls qngmpeasss
      481 ssvqfemvqe ntskthscdm tpkqskvvka ilwlcgiqek gkeelparae aiivsleenp
      541 lvktlldvnl ifcvscaifi wgyfa
//
LOCUS       NP_001387835             167 aa            linear   PRI 31-DEC-2022
DEFINITION  PCNA-interacting partner isoform 55 [Homo sapiens].
ACCESSION   NP_001387835
VERSION     NP_001387835.1
DBSOURCE    REFSEQ: accession NM_001400906.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 167)
  AUTHORS   Chen S, Li QH, Chen X, Bao HJ, Wu W, Shen F, Lu BF, Jiang RQ, Zong
            ZH and Zhao Y.
  TITLE     SNORA70E promotes the occurrence and development of ovarian cancer
            through pseudouridylation modification of RAP1B and alternative
            splicing of PARPBP
  JOURNAL   J Cell Mol Med 26 (20), 5150-5164 (2022)
   PUBMED   36056690
  REMARK    GeneRIF: SNORA70E promotes the occurrence and development of
            ovarian cancer through pseudouridylation modification of RAP1B and
            alternative splicing of PARPBP.
REFERENCE   2  (residues 1 to 167)
  AUTHORS   Yu B, Ding Y, Liao X, Wang C, Wang B and Chen X.
  TITLE     Overexpression of PARPBP Correlates with Tumor Progression and Poor
            Prognosis in Hepatocellular Carcinoma
  JOURNAL   Dig Dis Sci 64 (10), 2878-2892 (2019)
   PUBMED   30949905
  REMARK    GeneRIF: PARP1-binding protein was significantly upregulated in
            Hepatocellular Carcinoma tissues compared with normal liver. High
            PARPBP expression was associated with elevated serum AFP level,
            vascular invasion, poor tumor differentiation, and advanced TNM
            stage.
REFERENCE   3  (residues 1 to 167)
  AUTHORS   Xu D, Tao Z, Tang X and He JK.
  TITLE     Poly (ADP-ribose) polymerase-1 Binding Protein Facilitates Lung
            Adenocarcinoma Cell Proliferation and Correlates with Poor
            Prognosis
  JOURNAL   Ann Clin Lab Sci 49 (5), 574-580 (2019)
   PUBMED   31611199
  REMARK    GeneRIF: PARPBP expression is enhanced in lung adenocarcinoma
            tissues and is a potential factor in the progression of lung
            adenocarcinoma.
REFERENCE   4  (residues 1 to 167)
  AUTHORS   Nicolae CM, O'Connor MJ, Schleicher EM, Song C, Gowda R, Robertson
            G, Dovat S and Moldovan GL.
  TITLE     PARI (PARPBP) suppresses replication stress-induced myeloid
            differentiation in leukemia cells
  JOURNAL   Oncogene 38 (27), 5530-5540 (2019)
   PUBMED   30967629
  REMARK    GeneRIF: show that PARI expression negatively correlates with
            expression of differentiation markers in clinical myeloid leukemia
            samples, suggesting that targeting PARI may restore differentiation
            ability of leukemia cells and antagonize their proliferation
REFERENCE   5  (residues 1 to 167)
  AUTHORS   Zhang Y, Ye X, Chen L, Wu Q, Gao Y and Li Y.
  TITLE     PARI functions as a new transcriptional target of FOXM1 involved in
            gastric cancer development
  JOURNAL   Int J Biol Sci 14 (5), 531-541 (2018)
   PUBMED   29805304
  REMARK    GeneRIF: PARI plays potential oncogenic roles and functions as a
            transcriptional target and effector of FOXM1 in gastric cancer
            development
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 167)
  AUTHORS   Burkovics P, Dome L, Juhasz S, Altmannova V, Sebesta M, Pacesa M,
            Fugger K, Sorensen CS, Lee MY, Haracska L and Krejci L.
  TITLE     The PCNA-associated protein PARI negatively regulates homologous
            recombination via the inhibition of DNA repair synthesis
  JOURNAL   Nucleic Acids Res 44 (7), 3176-3189 (2016)
   PUBMED   26792895
  REMARK    GeneRIF: PARI inhibits homologous recombination in vivo, and its
            knockdown suppresses the UV sensitivity of RAD18-depleted cells
REFERENCE   7  (residues 1 to 167)
  AUTHORS   O'Connor KW, Dejsuphong D, Park E, Nicolae CM, Kimmelman AC,
            D'Andrea AD and Moldovan GL.
  TITLE     PARI overexpression promotes genomic instability and pancreatic
            tumorigenesis
  JOURNAL   Cancer Res 73 (8), 2529-2539 (2013)
   PUBMED   23436799
  REMARK    GeneRIF: PARI overexpression promotes genomic instability and
            pancreatic tumorigenesis.
REFERENCE   8  (residues 1 to 167)
  AUTHORS   Varisli L.
  TITLE     Meta-analysis of the cell cycle related C12orf48
  JOURNAL   Biocell 37 (1), 11-16 (2013)
   PUBMED   24396997
REFERENCE   9  (residues 1 to 167)
  AUTHORS   Moldovan GL, Dejsuphong D, Petalcorin MI, Hofmann K, Takeda S,
            Boulton SJ and D'Andrea AD.
  TITLE     Inhibition of homologous recombination by the PCNA-interacting
            protein PARI
  JOURNAL   Mol Cell 45 (1), 75-86 (2012)
   PUBMED   22153967
  REMARK    GeneRIF: PARI suppresses inappropriate recombination events at
            mammalian replication forks.
REFERENCE   10 (residues 1 to 167)
  AUTHORS   Piao L, Nakagawa H, Ueda K, Chung S, Kashiwaya K, Eguchi H,
            Ohigashi H, Ishikawa O, Daigo Y, Matsuda K and Nakamura Y.
  TITLE     C12orf48, termed PARP-1 binding protein, enhances poly(ADP-ribose)
            polymerase-1 (PARP-1) activity and protects pancreatic cancer cells
            from DNA damage
  JOURNAL   Genes Chromosomes Cancer 50 (1), 13-24 (2011)
   PUBMED   20931645
  REMARK    GeneRIF: Demonstrated that C12orf48 protein could directly interact
            with Poly(ADP-ribose) Polymerase-1 (PARP-1). Knockdown of C12orf48
            by siRNA in PDAC cells significantly suppressed their growth.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC079907.25 and AC087882.17.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1528552.1,
                                           SRR18074968.1089599.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2147975
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..167
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.2"
     Protein         1..167
                     /product="PCNA-interacting partner isoform 55"
                     /note="PCNA-interacting partner"
                     /calculated_mol_wt=18645
     CDS             1..167
                     /gene="PARPBP"
                     /gene_synonym="AROM; C12orf48; PARI"
                     /coded_by="NM_001400906.1:108..611"
                     /note="isoform 55 is encoded by transcript variant 66"
                     /db_xref="GeneID:55010"
                     /db_xref="HGNC:HGNC:26074"
                     /db_xref="MIM:613687"
ORIGIN      
        1 mavfnqksvs dmikefrknw ralcnsertt lcgadsmlla lqlsmaennk qsqlldflsg
       61 kqyavgdetd lsiptsptsk ynrdnekvat sfirtielgg kgyapppsdp lrthvkglsn
      121 finfidklde ilgeipnprs ptqvnnsikp lrericvsmq ekkikrv
//
LOCUS       NP_001387295             360 aa            linear   PRI 01-JAN-2023
DEFINITION  single-stranded DNA-binding protein 2 isoform 32 [Homo sapiens].
ACCESSION   NP_001387295
VERSION     NP_001387295.1
DBSOURCE    REFSEQ: accession NM_001400366.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 360)
  AUTHORS   Schwab C, Roberts K, Boer JM, Gohring G, Steinemann D, Vora A,
            Macartney C, Hough R, Thorn Z, Dillon R, Escherich G, Cazzaniga G,
            Schlegelberger B, Loh M, den Boer ML, Moorman AV and Harrison CJ.
  TITLE     SSBP2-CSF1R is a recurrent fusion in B-lineage acute lymphoblastic
            leukemia with diverse genetic presentation and variable outcome
  JOURNAL   Blood 137 (13), 1835-1838 (2021)
   PUBMED   33197935
  REMARK    GeneRIF: SSBP2-CSF1R is a recurrent fusion in B-lineage acute
            lymphoblastic leukemia with diverse genetic presentation and
            variable outcome.
REFERENCE   2  (residues 1 to 360)
  AUTHORS   Lawson T, El-Kamand S, Boucher D, Duong DC, Kariawasam R, Bonvin
            AMJJ, Richard DJ, Gamsjaeger R and Cubeddu L.
  TITLE     The structural details of the interaction of single-stranded DNA
            binding protein hSSB2 (NABP1/OBFC2A) with UV-damaged DNA
  JOURNAL   Proteins 88 (2), 319-326 (2020)
   PUBMED   31443132
  REMARK    GeneRIF: The structural details of the interaction of
            single-stranded DNA binding protein hSSB2 (NABP1/OBFC2A) with
            UV-damaged DNA.
REFERENCE   3  (residues 1 to 360)
  AUTHORS   Wang H, Kim J, Wang Z, Yan XX, Dean A and Xu W.
  TITLE     Crystal structure of human LDB1 in complex with SSBP2
  JOURNAL   Proc Natl Acad Sci U S A 117 (2), 1042-1048 (2020)
   PUBMED   31892537
  REMARK    GeneRIF: Single-stranded DNA binding proteins (SSBPs) interact
            specifically with the LDB/Chip conserved domain (LCCD) of LDB
            proteins and stabilize LDBs by preventing their proteasomal
            degradation, thus promoting their functions in gene regulation.
REFERENCE   4  (residues 1 to 360)
  AUTHORS   Kim H, Kim Y, Bang S, Park S, Jee S, Sim J, Shin SJ, Paik SS and
            Jang K.
  TITLE     Low Expression of Single-stranded DNA Binding Protein 2 (SSBP2)
            Predicts Unfavourable Postoperative Outcomes in Patients With Clear
            Cell Renal Cell Carcinoma
  JOURNAL   In Vivo 34 (1), 101-107 (2020)
   PUBMED   31882468
  REMARK    GeneRIF: CcRCC with low SSBP2 expression was associated with
            adverse clinicopathological characteristics and poor patient
            outcomes.
REFERENCE   5  (residues 1 to 360)
  AUTHORS   Wang H, Wang Z, Tang Q, Yan XX and Xu W.
  TITLE     Crystal structure of the LUFS domain of human single-stranded DNA
            binding Protein 2 (SSBP2)
  JOURNAL   Protein Sci 28 (4), 788-793 (2019)
   PUBMED   30676665
  REMARK    GeneRIF: This study reports a crystal structure of the highly
            conserved N-terminal LUFS domain of human SSBP2 at 1.52 A
            resolution.
REFERENCE   6  (residues 1 to 360)
  AUTHORS   Fleisig HB, Orazio NI, Liang H, Tyler AF, Adams HP, Weitzman MD and
            Nagarajan L.
  TITLE     Adenoviral E1B55K oncoprotein sequesters candidate leukemia
            suppressor sequence-specific single-stranded DNA-binding protein 2
            into aggresomes
  JOURNAL   Oncogene 26 (33), 4797-4805 (2007)
   PUBMED   17311003
  REMARK    GeneRIF: Results suggest that subverting SSBP2 function by
            oncoprotein E1B55K may contribute to cell transformation by viral
            oncoproteins.
REFERENCE   7  (residues 1 to 360)
  AUTHORS   Liang H, Samanta S and Nagarajan L.
  TITLE     SSBP2, a candidate tumor suppressor gene, induces growth arrest and
            differentiation of myeloid leukemia cells
  JOURNAL   Oncogene 24 (16), 2625-2634 (2005)
   PUBMED   15782145
  REMARK    GeneRIF: Our findings are consistent with human SSBP2 being a novel
            regulator of hematopoietic growth and differentiation, whose loss
            confers a block in differentiation advantage to myeloid leukemic
            cells.
REFERENCE   8  (residues 1 to 360)
  AUTHORS   Castro P, Liang H, Liang JC and Nagarajan L.
  TITLE     A novel, evolutionarily conserved gene family with putative
            sequence-specific single-stranded DNA-binding activity
  JOURNAL   Genomics 80 (1), 78-85 (2002)
   PUBMED   12079286
  REMARK    GeneRIF: Member of a closely related, evolutionarily conserved, and
            ubiquitously expressed gene family, potential tumor suppressor
REFERENCE   9  (residues 1 to 360)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (residues 1 to 360)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016562.7, AC093250.3,
            AC026419.5 and AC010623.10.
            
            Summary: This gene encodes a subunit of a protein complex that
            interacts with single-stranded DNA and is involved in the DNA
            damage response and maintenance of genome stability. The encoded
            protein may also play a role in telomere repair. A variant of this
            gene may be associated with survival in human glioblastoma
            patients. [provided by RefSeq, Sep 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14243140.6784541.1,
                                           ERR4352443.773354.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..360
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     Protein         1..360
                     /product="single-stranded DNA-binding protein 2 isoform
                     32"
                     /note="sequence-specific single-stranded-DNA-binding
                     protein 2"
                     /calculated_mol_wt=37597
     Site            6
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9CYZ8; propagated from
                     UniProtKB/Swiss-Prot (P81877.2)"
     Region          19..45
                     /region_name="LisH"
                     /note="Lissencephaly type-1-like homology motif;
                     smart00667"
                     /db_xref="CDD:128913"
     Region          83..337
                     /region_name="SSDP"
                     /note="Single-stranded DNA binding protein, SSDP;
                     pfam04503"
                     /db_xref="CDD:427984"
     Region          147..171
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P81877.2)"
     Site            320
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P81877.2)"
     Site            332
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P81877.2)"
     CDS             1..360
                     /gene="SSBP2"
                     /gene_synonym="HSPC116; SOSS-B2"
                     /coded_by="NM_001400366.1:56..1138"
                     /note="isoform 32 is encoded by transcript variant 36"
                     /db_xref="GeneID:23635"
                     /db_xref="HGNC:HGNC:15831"
                     /db_xref="MIM:607389"
ORIGIN      
        1 mygkgksnss avpsdsqare klalyvyeyl lhvgaqksaq tflseirwek nitlgeppgf
       61 lhswwcvfwd lycaaperre tcehsseaka fhdysaaaap spvlgnippg dgmpvgpvpp
      121 gffqpfmspr ypggprpplr ipnqalggvp gsqpllpsgm dptrqqghpn mggpmqrmtp
      181 prgmvplgpq nyggamrppl nalggpgmpg mnmgpgggrp wpnptnansi pyssaspgny
      241 gppggggppg tpimpspads tnsgdnmytl mnavppgpnr pnfpmgpgsd gpmgglggme
      301 shhmngslgs gdmdsiskns pnnmslsnqp gtprddgemg gnflnpfqse syspsmtmsv
//
LOCUS       NP_001070968             276 aa            linear   PRI 22-JAN-2023
DEFINITION  kallikrein-10 preproprotein [Homo sapiens].
ACCESSION   NP_001070968
VERSION     NP_001070968.1
DBSOURCE    REFSEQ: accession NM_001077500.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 276)
  AUTHORS   Zhao J, Wang Y, Wang Y, Gao J, Wu X and Li H.
  TITLE     miR-194-3p represses the docetaxel resistance in colon cancer by
            targeting KLK10
  JOURNAL   Pathol Res Pract 236, 153962 (2022)
   PUBMED   35691099
  REMARK    GeneRIF: miR-194-3p represses the docetaxel resistance in colon
            cancer by targeting KLK10.
REFERENCE   2  (residues 1 to 276)
  AUTHORS   Ahmad SM, Ahmed BS, Khidhir KG and Rahman HS.
  TITLE     Prospective quantitative gene expression analysis of
            kallikrein-related peptidase KLK10 as a diagnostic biomarker for
            childhood acute lymphoblastic leukemia
  JOURNAL   PeerJ 10, e13489 (2022)
   PUBMED   35669967
  REMARK    GeneRIF: Prospective quantitative gene expression analysis of
            kallikrein-related peptidase KLK10 as a diagnostic biomarker for
            childhood acute lymphoblastic leukemia.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 276)
  AUTHORS   Liu T and Fang Y.
  TITLE     MiR-194-3p modulates the progression of colorectal cancer by
            targeting KLK10
  JOURNAL   Histol Histopathol 37 (3), 301-309 (2022)
   PUBMED   34935123
  REMARK    GeneRIF: MiR-194-3p modulates the progression of colorectal cancer
            by targeting KLK10.
REFERENCE   4  (residues 1 to 276)
  AUTHORS   Gulec Yilmaz S, Yencilek F, Yildirim A, Akdeniz FT, Dalan AB, Barut
            Z and Isbir T.
  TITLE     The Role of Kallikrein10 (KLK10) Polymorphism in Prostate Cancer
            Susceptibility
  JOURNAL   Urol J 19 (1), 41-44 (2021)
   PUBMED   34089177
  REMARK    GeneRIF: The Role of Kallikrein10 (KLK10) Polymorphism in Prostate
            Cancer Susceptibility.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 276)
  AUTHORS   Wei H, Dong C and Shen Z.
  TITLE     Kallikrein-related peptidase (KLK10) cessation blunts colorectal
            cancer cell growth and glucose metabolism by regulating the
            PI3K/Akt/mTOR pathway
  JOURNAL   Neoplasma 67 (4), 889-897 (2020)
   PUBMED   32386481
  REMARK    GeneRIF: Kallikrein-related peptidase (KLK10) cessation blunts
            colorectal cancer cell growth and glucose metabolism by regulating
            the PI3K/Akt/mTOR pathway.
REFERENCE   6  (residues 1 to 276)
  AUTHORS   Diamandis EP, Yousef GM, Luo LY, Magklara A and Obiezu CV.
  TITLE     The new human kallikrein gene family: implications in
            carcinogenesis
  JOURNAL   Trends Endocrinol Metab 11 (2), 54-60 (2000)
   PUBMED   10675891
  REMARK    Review article
REFERENCE   7  (residues 1 to 276)
  AUTHORS   Goyal J, Smith KM, Cowan JM, Wazer DE, Lee SW and Band V.
  TITLE     The role for NES1 serine protease as a novel tumor suppressor
  JOURNAL   Cancer Res 58 (21), 4782-4786 (1998)
   PUBMED   9809976
REFERENCE   8  (residues 1 to 276)
  AUTHORS   Luo L, Herbrick JA, Scherer SW, Beatty B, Squire J and Diamandis
            EP.
  TITLE     Structural characterization and mapping of the normal epithelial
            cell-specific 1 gene
  JOURNAL   Biochem Biophys Res Commun 247 (3), 580-586 (1998)
   PUBMED   9647736
REFERENCE   9  (residues 1 to 276)
  AUTHORS   Polikoff D, Kuo WL, Cochran JF, Wernick M, Kowbel D, Myambo K and
            Collins CC.
  TITLE     Assignment of protease, serine-like 1 (PRSSL1) to human chromosome
            19q13 by in situ hybridization and radiation hybrid mapping
  JOURNAL   Cytogenet Cell Genet 79 (1-2), 147-148 (1997)
   PUBMED   9533035
REFERENCE   10 (residues 1 to 276)
  AUTHORS   Liu XL, Wazer DE, Watanabe K and Band V.
  TITLE     Identification of a novel serine protease-like gene, the expression
            of which is down-regulated during breast cancer progression
  JOURNAL   Cancer Res 56 (14), 3371-3379 (1996)
   PUBMED   8764136
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM830577.1, AY561635.1,
            AC011473.4 and BU685208.1.
            
            Summary: Kallikreins are a subgroup of serine proteases having
            diverse physiological functions. Growing evidence suggests that
            many kallikreins are implicated in carcinogenesis and some have
            potential as novel cancer and other disease biomarkers. This gene
            is one of the fifteen kallikrein subfamily members located in a
            cluster on chromosome 19. Its encoded protein is secreted and may
            play a role in suppression of tumorigenesis in breast and prostate
            cancers. Alternate splicing of this gene results in multiple
            transcript variants encoding the same protein. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. All transcript variants encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: CR450327.1, KJ010191.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1966682,
                                    SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..276
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     Protein         1..276
                     /product="kallikrein-10 preproprotein"
                     /EC_number="3.4.21.35"
                     /note="normal epithelial cell-specific 1; breast normal
                     epithelial cell associated serine protease; kallikrein-10;
                     protease serine-like 1; kallikrein 10 protein 8;
                     kallikrein 10 protein 9; kallikrein 10 protein 12;
                     kallikrein 10 protein 2; kallikrein 10 protein 3;
                     kallikrein 10 protein 4; kallikrein 10 protein 7;
                     kallikrein 10 protein 13; kallikrein 10 protein 5"
                     /calculated_mol_wt=26708
     sig_peptide     1..33
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3480
     Site            39
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O43240.3)"
     Region          49..272
                     /region_name="Tryp_SPc"
                     /note="Trypsin-like serine protease; Many of these are
                     synthesized as inactive precursor zymogens that are
                     cleaved during limited proteolysis to generate their
                     active forms. Alignment contains also inactive enzymes
                     that have substitutions of the catalytic triad...;
                     cd00190"
                     /db_xref="CDD:238113"
     Site            order(86,137,229)
                     /site_type="active"
                     /db_xref="CDD:238113"
     Site            order(223,244,246)
                     /site_type="other"
                     /note="substrate binding sites [chemical binding]"
                     /db_xref="CDD:238113"
     CDS             1..276
                     /gene="KLK10"
                     /gene_synonym="NES1; PRSSL1"
                     /coded_by="NM_001077500.2:43..873"
                     /db_xref="CCDS:CCDS12817.1"
                     /db_xref="GeneID:5655"
                     /db_xref="HGNC:HGNC:6358"
                     /db_xref="MIM:602673"
ORIGIN      
        1 mraphlhlsa asgaralakl lpllmaqlwa aeaallpqnd trldpeaygs pcargsqpwq
       61 vslfnglsfh cagvlvdqsw vltaahcgnk plwarvgddh llllqgeqlr rttrsvvhpk
      121 yhqgsgpilp rrtdehdlml lklarpvvlg prvralqlpy rcaqpgdqcq vagwgttaar
      181 rvkynkgltc ssitilspke cevfypgvvt nnmicagldr gqdpcqsdsg gplvcdetlq
      241 gilswgvypc gsaqhpavyt qickymswin kvirsn
//
LOCUS       NP_001350818            1517 aa            linear   PRI 08-FEB-2023
DEFINITION  DNA topoisomerase 2-binding protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001350818 XP_005247133
VERSION     NP_001350818.1
DBSOURCE    REFSEQ: accession NM_001363889.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1517)
  AUTHORS   Wang Y, Yan X, Qu X, Mao J, Wang J, Yang M and Tao M.
  TITLE     Topoisomerase IIbeta binding protein 1 serves as a novel prognostic
            biomarker for stage II-III colorectal cancer patients
  JOURNAL   Pathol Res Pract 241, 154287 (2023)
   PUBMED   36586311
  REMARK    GeneRIF: Topoisomerase IIbeta binding protein 1 serves as a novel
            prognostic biomarker for stage II-III colorectal cancer patients.
REFERENCE   2  (residues 1 to 1517)
  AUTHORS   Zhao Y, Huang X, Zhu D, Wei M, Luo J, Yu S, Tian Y and Zheng X.
  TITLE     Deubiquitinase OTUD6A promotes breast cancer progression by
            increasing TopBP1 stability and rendering tumor cells resistant to
            DNA-damaging therapy
  JOURNAL   Cell Death Differ 29 (12), 2531-2544 (2022)
   PUBMED   35768646
  REMARK    GeneRIF: Deubiquitinase OTUD6A promotes breast cancer progression
            by increasing TopBP1 stability and rendering tumor cells resistant
            to DNA-damaging therapy.
REFERENCE   3  (residues 1 to 1517)
  AUTHORS   Prabhakar AT, James CD, Das D, Fontan CT, Otoa R, Wang X, Bristol
            ML and Morgan IM.
  TITLE     Interaction with TopBP1 Is Required for Human Papillomavirus 16 E2
            Plasmid Segregation/Retention Function during Mitosis
  JOURNAL   J Virol 96 (16), e0083022 (2022)
   PUBMED   35880889
  REMARK    GeneRIF: Interaction with TopBP1 Is Required for Human
            Papillomavirus 16 E2 Plasmid Segregation/Retention Function during
            Mitosis.
REFERENCE   4  (residues 1 to 1517)
  AUTHORS   De Marco Zompit M, Esteban MT, Mooser C, Adam S, Rossi SE,
            Jeanrenaud A, Leimbacher PA, Fink D, Shorrocks AK, Blackford AN,
            Durocher D and Stucki M.
  TITLE     The CIP2A-TOPBP1 complex safeguards chromosomal stability during
            mitosis
  JOURNAL   Nat Commun 13 (1), 4143 (2022)
   PUBMED   35842428
  REMARK    GeneRIF: The CIP2A-TOPBP1 complex safeguards chromosomal stability
            during mitosis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1517)
  AUTHORS   Ma S, Zhang J, Guo Q, Cao C, Bao K, Liu L, Chen CD, Liu Z, Yang J,
            Yang N, Yao Z and Shi L.
  TITLE     Disrupting PHF8-TOPBP1 connection elicits a breast tumor-specific
            vulnerability to chemotherapeutics
  JOURNAL   Cancer Lett 530, 29-44 (2022)
   PUBMED   35051531
  REMARK    GeneRIF: Disrupting PHF8-TOPBP1 connection elicits a breast
            tumor-specific vulnerability to chemotherapeutics.
REFERENCE   6  (residues 1 to 1517)
  AUTHORS   Honda Y, Tojo M, Matsuzaki K, Anan T, Matsumoto M, Ando M, Saya H
            and Nakao M.
  TITLE     Cooperation of HECT-domain ubiquitin ligase hHYD and DNA
            topoisomerase II-binding protein for DNA damage response
  JOURNAL   J Biol Chem 277 (5), 3599-3605 (2002)
   PUBMED   11714696
REFERENCE   7  (residues 1 to 1517)
  AUTHORS   Makiniemi M, Hillukkala T, Tuusa J, Reini K, Vaara M, Huang D,
            Pospiech H, Majuri I, Westerling T, Makela TP and Syvaoja JE.
  TITLE     BRCT domain-containing protein TopBP1 functions in DNA replication
            and damage response
  JOURNAL   J Biol Chem 276 (32), 30399-30406 (2001)
   PUBMED   11395493
REFERENCE   8  (residues 1 to 1517)
  AUTHORS   Potter T, Gohde W, Wedemeyer N and Kohnlein W.
  TITLE     Keratinocytes exposed to ultraviolet radiation reveal three
            down-regulated genes with potential function in differentiation and
            cell cycle control
  JOURNAL   Radiat Res 154 (2), 151-158 (2000)
   PUBMED   10931686
REFERENCE   9  (residues 1 to 1517)
  AUTHORS   Yamane K and Tsuruo T.
  TITLE     Conserved BRCT regions of TopBP1 and of the tumor suppressor BRCA1
            bind strand breaks and termini of DNA
  JOURNAL   Oncogene 18 (37), 5194-5203 (1999)
   PUBMED   10498869
REFERENCE   10 (residues 1 to 1517)
  AUTHORS   Yamane K, Kawabata M and Tsuruo T.
  TITLE     A DNA-topoisomerase-II-binding protein with eight repeating regions
            similar to DNA-repair enzymes and to a cell-cycle regulator
  JOURNAL   Eur J Biochem 250 (3), 794-799 (1997)
   PUBMED   9461304
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC083905.20 and AC016255.24.
            On May 31, 2018 this sequence version replaced XP_005247133.1.
            
            Summary: This gene encodes a binding protein which interacts with
            the C-terminal region of topoisomerase II beta. This interaction
            suggests a supportive role for this protein in the catalytic
            reactions of topoisomerase II beta through transient breakages of
            DNA strands. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3847529.1,
                                           SRR14038191.743565.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1517
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     Protein         1..1517
                     /product="DNA topoisomerase 2-binding protein 1 isoform 2"
                     /note="DNA topoisomerase 2-binding protein 1; DNA
                     topoisomerase II-beta-binding protein 1; topoisomerase
                     (DNA) II binding protein 1"
                     /calculated_mol_wt=170003
     Region          108..179
                     /region_name="BRCT_TopBP1_rpt1"
                     /note="first BRCT domain of DNA topoisomerase 2-binding
                     protein 1 (TopBP1) and similar proteins; cd17737"
                     /db_xref="CDD:349369"
     Region          198..274
                     /region_name="BRCT_TopBP1_rpt2_like"
                     /note="second BRCT domain of DNA topoisomerase 2-binding
                     protein 1 (TopBP1) and similar proteins; cd17731"
                     /db_xref="CDD:349363"
     Site            order(207..211,215,231..235,249..250,253,257..258)
                     /site_type="other"
                     /note="Crb2 interaction site [polypeptide binding]"
                     /db_xref="CDD:349363"
     Site            298
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92547.3)"
     Site            301
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (Q92547.3)"
     Region          348..429
                     /region_name="BRCT_TopBP1_rpt3"
                     /note="third BRCT domain of DNA topoisomerase 2-binding
                     protein 1 (TopBP1) and similar proteins; cd17718"
                     /db_xref="CDD:349350"
     Region          548..631
                     /region_name="BRCT_TopBP1_rpt4"
                     /note="fourth BRCT domain of DNA topoisomerase 2-binding
                     protein 1 (TopBP1) and similar proteins; cd17749"
                     /db_xref="CDD:349380"
     Region          640..728
                     /region_name="BRCT_TopBP1_rpt5"
                     /note="fifth BRCT domain of DNA topoisomerase 2-binding
                     protein 1 (TopBP1) and similar proteins; cd18434"
                     /db_xref="CDD:349387"
     Site            774
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92547.3)"
     Site            843
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q92547.3)"
     Region          847..853
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92547.3)"
     Site            855
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92547.3)"
     Site            856
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92547.3)"
     Site            859
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92547.3)"
     Site            881
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q92547.3)"
     Site            883
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q92547.3)"
     Region          900..974
                     /region_name="BRCT_TopBP1_rpt6"
                     /note="sixth BRCT domain of DNA topoisomerase 2-binding
                     protein 1 (TopBP1) and similar proteins; cd17727"
                     /db_xref="CDD:349359"
     Site            997
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q92547.3)"
     Region          1013..1053
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92547.3)"
     Site            1059
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92547.3)"
     Region          1078..1113
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92547.3)"
     Region          1262..1336
                     /region_name="BRCT_TopBP1_rpt7"
                     /note="seventh BRCT domain of DNA topoisomerase 2-binding
                     protein 1; cd17738"
                     /db_xref="CDD:349370"
     Site            order(1267..1271,1275,1306,1308..1312)
                     /site_type="other"
                     /note="BACH1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349370"
     Region          1391..1471
                     /region_name="BRCT_TopBP1_rpt8"
                     /note="eighth (C-terminal) BRCT domain of DNA
                     topoisomerase 2-binding protein 1; cd17728"
                     /db_xref="CDD:349360"
     Region          1496..1517
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92547.3)"
     Site            1499
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92547.3)"
     Region          1512..1515
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92547.3)"
     CDS             1..1517
                     /gene="TOPBP1"
                     /gene_synonym="Dpb11; TOP2BP1"
                     /coded_by="NM_001363889.2:181..4734"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS87136.1"
                     /db_xref="GeneID:11073"
                     /db_xref="HGNC:HGNC:17008"
                     /db_xref="MIM:607760"
ORIGIN      
        1 msrndkepff vkflkssdns kcffkalesi kefqseeylq iiteeealki kendrslyic
       61 dpfsgvvfdh lkklgcrivg pqvvifcmhh qrcvpraehp vynmvmsdvt isctslekek
      121 reevhkyvqm mggrvyrdln vsvthliage vgskkylvaa nlkkpillps wiktlweksq
      181 ekkitrytdi nmedfkcpif lgciicvtgl cgldrkevqq ltvkhggqym gqlkmnecth
      241 livqepkgqk yecakrwnvh cvttqwffds iekgfcqdes iykteprpea ktmpnsstpt
      301 sqintidnvs nisninascv sesicnslns kleptlenle nldvsafqap edlldgcriy
      361 lcgfsgrkld klrrlinsgg gvrfnqlned vthvivgdyd delkqfwnks ahrphvvgak
      421 wllecfskgy mlseepyiha nyqpveipvs hkpeskaall kkknssfskk dfapsekheq
      481 adedllsqye ngsstvveak tsearpfnds thaeplndst hislqeenqs svshcvpdvs
      541 titeeglfsq ksflvlgfsn enesnianii kenagkimsl lsrtvadyav vpllgcevea
      601 tvgevvtntw lvtcidyqtl fdpksnplft pvpvmtgmtp ledcvisfsq cagaekeslt
      661 flanllgasv qeyfvrksna kkgmfasthl ilkerggsky eaakkwnlpa vtiawlleta
      721 rtgkradesh flienstkee rsleteitng inlnsdtaeh pgtrlqthrk tvvtpldmnr
      781 fqskafravv sqharqvaas pavgqplqke pslhldtpsk flskdklfkp sfdvkdalaa
      841 letpgrpsqq krkpstplse vivknlqlal anssrnaval saspqlkeaq sekeeapkpl
      901 hkvvvcvskk lskkqselng iaaslgadyr wsfdetvthf iyqgrpndtn reyksvkerg
      961 vhivsehwll dcaqeckhlp eslyphtynp kmsldisavq dgrlcnsrll savsstkdde
     1021 pdplileend vdnmatnnke sapsngsgkn dskgvltqtl emrenfqkql qeimsatsiv
     1081 kpqgqrtsls rsgcnsasst pdstrsarsg rsrvlealrq srqtvpdvnt epsqneqiiw
     1141 ddptareera rlasnlqwps cptqyselqv diqnledspf qkplhdseia kqavcdpgni
     1201 rvteapkhpi seeletpikd shliptpqap siafplanpp vaphprekii tieetheelk
     1261 kqyifqlssl npqeridych lieklgglvi ekqcfdptct hivvghplrn ekylasvaag
     1321 kwvlhrsyle acrtaghfvq eedyewgsss ildvltginv qqrrlalaam rwrkkiqqrq
     1381 esgivegafs gwkvilhvdq sreagfkrll qsggakvlpg hsvplfkeat hlfsdlnklk
     1441 pddsgvniae aaaqnvyclr teyiadylmq espphvenyc lpeaisfiqn nkelgtglsq
     1501 krkapteknk ikrprvh
//
LOCUS       NP_005588                428 aa            linear   PRI 19-FEB-2023
DEFINITION  nuclear factor 1 C-type isoform 5 [Homo sapiens].
ACCESSION   NP_005588
VERSION     NP_005588.2
DBSOURCE    REFSEQ: accession NM_005597.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 428)
  AUTHORS   Rastogi N, Gonzalez JBM, Srivastava VK, Alanazi B, Alanazi RN,
            Hughes OM, O'Neill NS, Gilkes AF, Ashley N, Deshpande S, Andrews R,
            Mead A, Rodrigues NP, Knapper S, Darley RL and Tonks A.
  TITLE     Nuclear factor I-C overexpression promotes monocytic development
            and cell survival in acute myeloid leukemia
  JOURNAL   Leukemia 37 (2), 276-287 (2023)
   PUBMED   36572750
  REMARK    GeneRIF: Nuclear factor I-C overexpression promotes monocytic
            development and cell survival in acute myeloid leukemia.
REFERENCE   2  (residues 1 to 428)
  AUTHORS   Zhang J, Wang Z, Liang Z, Jin C, Shi Y, Fan M, Hu X and Wan Y.
  TITLE     NFIC1 inhibits the migration and invasion of MDA-MB-231 cells
            through S100A2-mediated inactivation of MEK/ERK pathway
  JOURNAL   Arch Biochem Biophys 734, 109497 (2023)
   PUBMED   36574914
  REMARK    GeneRIF: NFIC1 inhibits the migration and invasion of MDA-MB-231
            cells through S100A2-mediated inactivation of MEK/ERK pathway.
REFERENCE   3  (residues 1 to 428)
  AUTHORS   Ye Y, Jin Q, Gong Q, Li A, Sun M, Jiang S, Jin Y, Zhang Z, He J and
            Zhuang L.
  TITLE     Bioinformatics and Experimental Analyses Reveal NFIC as an Upstream
            Transcriptional Regulator for Ischemic Cardiomyopathy
  JOURNAL   Genes (Basel) 13 (6), 1051 (2022)
   PUBMED   35741813
  REMARK    GeneRIF: Bioinformatics and Experimental Analyses Reveal NFIC as an
            Upstream Transcriptional Regulator for Ischemic Cardiomyopathy.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 428)
  AUTHORS   Zhao F, Wu L, Wang Q, Zhao X, Chen T, Yin C, Yan L and Yang X.
  TITLE     Insulin-like growth factor 2 mRNA-binding protein 2-regulated
            alternative splicing of nuclear factor 1 C-type causes excessive
            granulosa cell proliferation in polycystic ovary syndrome
  JOURNAL   Cell Prolif 55 (4), e13216 (2022)
   PUBMED   35293050
  REMARK    GeneRIF: Insulin-like growth factor 2 mRNA-binding protein
            2-regulated alternative splicing of nuclear factor 1 C-type causes
            excessive granulosa cell proliferation in polycystic ovary
            syndrome.
REFERENCE   5  (residues 1 to 428)
  AUTHORS   Lv S, Liu L, Yang B and Zhao X.
  TITLE     Association of miR-9-5p and NFIC in the progression of gastric
            cancer
  JOURNAL   Hum Exp Toxicol 41, 9603271221084671 (2022)
   PUBMED   35481447
  REMARK    GeneRIF: Association of miR-9-5p and NFIC in the progression of
            gastric cancer.
REFERENCE   6  (residues 1 to 428)
  AUTHORS   Wenzelides S, Altmann H, Wendler W and Winnacker EL.
  TITLE     CTF5--a new transcriptional activator of the NFI/CTF family
  JOURNAL   Nucleic Acids Res 24 (12), 2416-2421 (1996)
   PUBMED   8710515
REFERENCE   7  (residues 1 to 428)
  AUTHORS   Blau J, Xiao H, McCracken S, O'Hare P, Greenblatt J and Bentley D.
  TITLE     Three functional classes of transcriptional activation domain
  JOURNAL   Mol Cell Biol 16 (5), 2044-2055 (1996)
   PUBMED   8628270
REFERENCE   8  (residues 1 to 428)
  AUTHORS   Qian F, Kruse U, Lichter P and Sippel AE.
  TITLE     Chromosomal localization of the four genes (NFIA, B, C, and X) for
            the human transcription factor nuclear factor I by FISH
  JOURNAL   Genomics 28 (1), 66-73 (1995)
   PUBMED   7590749
REFERENCE   9  (residues 1 to 428)
  AUTHORS   Nehls MC, Grapilon ML and Brenner DA.
  TITLE     NF-I/Sp1 switch elements regulate collagen alpha 1(I) gene
            expression
  JOURNAL   DNA Cell Biol 11 (6), 443-452 (1992)
   PUBMED   1524678
REFERENCE   10 (residues 1 to 428)
  AUTHORS   Santoro C, Mermod N, Andrews PC and Tjian R.
  TITLE     A family of human CCAAT-box-binding proteins active in
            transcription and DNA replication: cloning and expression of
            multiple cDNAs
  JOURNAL   Nature 334 (6179), 218-224 (1988)
   PUBMED   3398920
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC012120.1, AK289885.1,
            CB053896.1, CK431049.1, AC005551.1, KF456476.1 and BU727954.1.
            On Mar 17, 2004 this sequence version replaced NP_005588.1.
            
            Summary: The protein encoded by this gene belongs to the CTF/NF-I
            family. These are dimeric DNA-binding proteins, and function as
            cellular transcription factors and as replication factors for
            adenovirus DNA replication. Alternatively spliced transcript
            variants encoding different isoforms have been described for this
            gene. [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (5) lacks two consecutive in-frame
            coding exons compared to variant 1. This results in a shorter
            isoform (5) missing an internal protein segment compared to isoform
            1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1932772.1,
                                           SRR6380201.26848.15 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..428
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..428
                     /product="nuclear factor 1 C-type isoform 5"
                     /note="nuclear factor 1 C-type; NF1-C; NF-I/C;
                     TGGCA-binding protein; nuclear factor I/C (CCAAT-binding
                     transcription factor); CCAAT-box-binding transcription
                     factor"
                     /calculated_mol_wt=47498
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Region          10..47
                     /region_name="NfI_DNAbd_pre-N"
                     /note="Nuclear factor I protein pre-N-terminus; pfam10524"
                     /db_xref="CDD:371114"
     Region          68..169
                     /region_name="MH1"
                     /note="N-terminal Mad Homology 1 (MH1) domain; cl00055"
                     /db_xref="CDD:412134"
     Region          190..209
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P08651.2)"
     Site            194
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Region          217..>423
                     /region_name="CTF_NFI"
                     /note="CTF/NF-I family transcription modulation region;
                     pfam00859"
                     /db_xref="CDD:425913"
     Region          267..348
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P08651.2)"
     Site            294
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            300
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P70255; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            302
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70255; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            304
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            305
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            323
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P08651.2)"
     Site            333
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            337
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            339
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            343
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            365
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            395
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Region          404..412
                     /region_name="9aaTAD.
                     /evidence=ECO:0000269|PubMed:31375868"
                     /note="propagated from UniProtKB/Swiss-Prot (P08651.2)"
     CDS             1..428
                     /gene="NFIC"
                     /gene_synonym="CTF; CTF5; NF-I; NFI"
                     /coded_by="NM_005597.4:55..1341"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS12107.1"
                     /db_xref="GeneID:4782"
                     /db_xref="HGNC:HGNC:7786"
                     /db_xref="MIM:600729"
ORIGIN      
        1 myssplcltq defhpfieal lphvrafayt wfnlqarkrk yfkkhekrms kdeeravkde
       61 llgekpevkq kwasrllakl rkdirpecre dfvlsitgkk apgcvlsnpd qkgkmrridc
      121 lrqadkvwrl dlvmvilfkg iplestdger lvkaaqcghp vlcvqphhig vavkeldlyl
      181 ayfvrerdae qsgsprtgmg sdqedskpit ldttdfqesf vtsgvfsvte liqvsrtpvv
      241 tgtgpnfslg elqghlaydl npastglrrt lpstsssgsk rhksgsmeed vdtspggdyy
      301 tspssptsss rnwtedmegg isspvkktem dkspfnspsp qdsprlssft qhhrpviavh
      361 sgiarsphps salhfpttsi lpqtastyfp htairypphl npqdplkdlv slacdpasqq
      421 pgpswylg
//
LOCUS       NP_001358145             410 aa            linear   PRI 19-FEB-2023
DEFINITION  zinc finger protein 3 isoform 3 [Homo sapiens].
ACCESSION   NP_001358145
VERSION     NP_001358145.1
DBSOURCE    REFSEQ: accession NM_001371216.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 410)
  AUTHORS   Du L, Liu N, Jin J, Cao M, Sun Y, Gao X, Ruan B, Yang S, Ge D, Ye
            Y, Zhou Y, Chen E and Yang J.
  TITLE     ZNF3 regulates proliferation, migration and invasion through MMP1
            and TWIST in colorectal cancer
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 54 (12), 1889-1896 (2022)
   PUBMED   36789689
  REMARK    GeneRIF: ZNF3 regulates proliferation, migration and invasion
            through MMP1 and TWIST in colorectal cancer.
REFERENCE   2  (residues 1 to 410)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 410)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   4  (residues 1 to 410)
  AUTHORS   Gao J, Li WX, Feng SQ, Yuan YS, Wan DF, Han W and Yu Y.
  TITLE     A protein-protein interaction network of transcription factors
            acting during liver cell proliferation
  JOURNAL   Genomics 91 (4), 347-355 (2008)
   PUBMED   18255255
REFERENCE   5  (residues 1 to 410)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   6  (residues 1 to 410)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   7  (residues 1 to 410)
  AUTHORS   Rosati M, Marino M, Franze A, Tramontano A and Grimaldi G.
  TITLE     Members of the zinc finger protein gene family sharing a conserved
            N-terminal module
  JOURNAL   Nucleic Acids Res 19 (20), 5661-5667 (1991)
   PUBMED   1945843
REFERENCE   8  (residues 1 to 410)
  AUTHORS   Thiesen HJ.
  TITLE     Multiple genes encoding zinc finger domains are expressed in human
            T cells
  JOURNAL   New Biol 2 (4), 363-374 (1990)
   PUBMED   2288909
REFERENCE   9  (residues 1 to 410)
  AUTHORS   Pannuti A, Lanfrancone L, Pascucci A, Pelicci PG, La Mantia G and
            Lania L.
  TITLE     Isolation of cDNAs encoding finger proteins and measurement of the
            corresponding mRNA levels during myeloid terminal differentiation
  JOURNAL   Nucleic Acids Res 16 (10), 4227-4237 (1988)
   PUBMED   3380682
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073842.5 and AC093619.5.
            
            Transcript Variant: This variant (20), as well as variants 6, 7,
            13, and 19, encodes isoform 3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.2442660.1,
                                           SRR14038191.3844696.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..410
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     Protein         1..410
                     /product="zinc finger protein 3 isoform 3"
                     /note="C2-H2 type zinc finger protein; zinc finger protein
                     HF.12; zinc finger protein KOX25; zinc finger protein
                     HZF3.1"
                     /calculated_mol_wt=46970
     Region          14..55
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          <139..317
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          142..158
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          166..186
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(171,173,175,177..178,181..182,185,199,201,205..206,
                     209..210,213,227,229,231,233..234,237..238,241)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          194..214
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          222..242
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          250..270
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(255,257,259,261..262,265..266,269,283,285,289..290,
                     293..294,297,311,313,315,317..318,321..322,325)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          278..298
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          306..326
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          318..343
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          334..354
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          347..371
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          362..382
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..410
                     /gene="ZNF3"
                     /gene_synonym="A8-51; HF.12; KOX25; PP838; Zfp113"
                     /coded_by="NM_001371216.1:260..1492"
                     /note="isoform 3 is encoded by transcript variant 20"
                     /db_xref="CCDS:CCDS94152.1"
                     /db_xref="GeneID:7551"
                     /db_xref="HGNC:HGNC:13089"
                     /db_xref="MIM:194510"
ORIGIN      
        1 mlaaallkak sqelvtfedv avyfirkewk rlepaqrdly rdvmlenygn vfsldretrt
       61 endqeisedt rshgvllgrf qkdisqglkf keayerevsl krplgnspge rlnrkmpdfg
      121 qvtveekltp rgersekynd fgnsftvnsn lishqrlpvg drphkcdecs ksfnrtsdli
      181 qhqrihtgek pyecnecgka fsqsshliqh qrihtgekpy ecsdcgktfs cssalilhrr
      241 ihtgekpyec necgktfsws stlthhqrih tgekpyacne cgkafsrsst lihhqrihtg
      301 ekpyecnecg kafsqsshly qhqrihtgek pyecmecggk ftyssgliqh qrihtgenpy
      361 ecsecgkafr yssalvrhqr ihtgekplng igmsksslrv ttelnirest
//
LOCUS       NP_113627                388 aa            linear   PRI 12-MAR-2023
DEFINITION  transcription factor SOX-7 [Homo sapiens].
ACCESSION   NP_113627
VERSION     NP_113627.1
DBSOURCE    REFSEQ: accession NM_031439.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 388)
  AUTHORS   Chiang IKN, Graus MS, Kirschnick N, Davidson T, Luu W, Harwood R,
            Jiang K, Li B, Wong YY, Moustaqil M, Lesieur E, Skoczylas R,
            Kouskoff V, Kazenwadel J, Arriola-Martinez L, Sierecki E, Gambin Y,
            Alitalo K, Kiefer F, Harvey NL and Francois M.
  TITLE     The blood vasculature instructs lymphatic patterning in a
            SOX7-dependent manner
  JOURNAL   EMBO J 42 (5), e109032 (2023)
   PUBMED   36715213
  REMARK    GeneRIF: The blood vasculature instructs lymphatic patterning in a
            SOX7-dependent manner.
REFERENCE   2  (residues 1 to 388)
  AUTHORS   Chen Q, Xi X, Ma J, Wang X, Xia Y, Wang X, Deng Y and Li Y.
  TITLE     The mechanism by which crocetin regulates the lncRNA
            NEAT1/miR-125b-5p/SOX7 molecular axis to inhibit high
            glucose-induced diabetic retinopathy
  JOURNAL   Exp Eye Res 222, 109157 (2022)
   PUBMED   35718188
  REMARK    GeneRIF: The mechanism by which crocetin regulates the lncRNA
            NEAT1/miR-125b-5p/SOX7 molecular axis to inhibit high
            glucose-induced diabetic retinopathy.
REFERENCE   3  (residues 1 to 388)
  AUTHORS   Li B, Li Z, Yang J, Hong N, Jin L, Xu Y, Fu Q, Sun K, Yu Y, Lu Y
            and Chen S.
  TITLE     Predisposition to atrioventricular septal defects may be caused by
            SOX7 variants that impair interaction with GATA4
  JOURNAL   Mol Genet Genomics 297 (3), 671-687 (2022)
   PUBMED   35260939
  REMARK    GeneRIF: Predisposition to atrioventricular septal defects may be
            caused by SOX7 variants that impair interaction with GATA4.
REFERENCE   4  (residues 1 to 388)
  AUTHORS   Ge J, Zheng Q, Qu H, Zhao Z, Xu Y, Wang H, Gao H and Zhan J.
  TITLE     SOX7 modulates the progression of hepatoblastoma through the
            regulation of Wnt/beta-catenin signaling pathway
  JOURNAL   J Cancer Res Ther 18 (2), 370-377 (2022)
   PUBMED   35645102
  REMARK    GeneRIF: SOX7 modulates the progression of hepatoblastoma through
            the regulation of Wnt/beta-catenin signaling pathway.
REFERENCE   5  (residues 1 to 388)
  AUTHORS   Sulidankazha C, Han W, He T, Lin H, Cheng K, Nie X and Chen Q.
  TITLE     miR-146a Inhibited Pancreatic Cancer Cell Proliferation by
            Targeting SOX7
  JOURNAL   J Healthc Eng 2022, 2240605 (2022)
   PUBMED   35222878
  REMARK    GeneRIF: miR-146a Inhibited Pancreatic Cancer Cell Proliferation by
            Targeting SOX7.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 388)
  AUTHORS   Zhang Y, Huang S, Dong W, Li L, Feng Y, Pan L, Han Z, Wang X, Ren
            G, Su D, Huang B and Lu J.
  TITLE     SOX7, down-regulated in colorectal cancer, induces apoptosis and
            inhibits proliferation of colorectal cancer cells
  JOURNAL   Cancer Lett 277 (1), 29-37 (2009)
   PUBMED   19108950
  REMARK    GeneRIF: SOX7, down-regulated in colorectal cancer, induces
            apoptosis and inhibits proliferation of colorectal cancer cells.
REFERENCE   7  (residues 1 to 388)
  AUTHORS   Semb H.
  TITLE     Expandable endodermal progenitors: new tools to explore endoderm
            and its derivatives
  JOURNAL   Cell Stem Cell 3 (4), 355-356 (2008)
   PUBMED   18940723
  REMARK    GeneRIF: stable expression induces a stable expandable extra
            embryonic endoderm phenotype in hESCs
REFERENCE   8  (residues 1 to 388)
  AUTHORS   Guo L, Zhong D, Lau S, Liu X, Dong XY, Sun X, Yang VW, Vertino PM,
            Moreno CS, Varma V, Dong JT and Zhou W.
  TITLE     Sox7 Is an independent checkpoint for beta-catenin function in
            prostate and colon epithelial cells
  JOURNAL   Mol Cancer Res 6 (9), 1421-1430 (2008)
   PUBMED   18819930
  REMARK    GeneRIF: Sox7 is a tumor suppressor that functions as an
            independent checkpoint for beta-catenin transcriptional activity.
            Inactivation of Sox7 could promote the development of a majority of
            colorectal tumors and approximately half of prostate tumors.
REFERENCE   9  (residues 1 to 388)
  AUTHORS   Seguin CA, Draper JS, Nagy A and Rossant J.
  TITLE     Establishment of endoderm progenitors by SOX transcription factor
            expression in human embryonic stem cells
  JOURNAL   Cell Stem Cell 3 (2), 182-195 (2008)
   PUBMED   18682240
  REMARK    GeneRIF: stable endoderm progenitors can be established from human
            ES cells by constitutive expression of SOX7 producing
            extraembryonic endoderm progenitors
REFERENCE   10 (residues 1 to 388)
  AUTHORS   Takash W, Canizares J, Bonneaud N, Poulat F, Mattei MG, Jay P and
            Berta P.
  TITLE     SOX7 transcription factor: sequence, chromosomal localisation,
            expression, transactivation and interference with Wnt signalling
  JOURNAL   Nucleic Acids Res 29 (21), 4274-4283 (2001)
   PUBMED   11691915
  REMARK    GeneRIF: gene expression, chromosome mapping, transactivation,
            interference with Wnt signaling
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY089489.1, BC004299.1 and
            AC105001.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the SOX (SRY-related
            HMG-box) family of transcription factors involved in the regulation
            of embryonic development and in the determination of the cell fate.
            The encoded protein may act as a transcriptional regulator after
            forming a protein complex with other proteins. The protein may play
            a role in tumorigenesis. A similar protein in mice is involved in
            the regulation of the wingless-type MMTV integration site family
            (Wnt) pathway. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA888228.1, SRR1660807.89138.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304501.2/ ENSP00000301921.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..388
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     Protein         1..388
                     /product="transcription factor SOX-7"
                     /note="SRY (sex determining region Y)-box 7; SRY-box 7"
                     /calculated_mol_wt=42066
     Region          20..46
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BT81.1)"
     Region          34..121
                     /region_name="HMG-box_SoxF_SOX7"
                     /note="high mobility group (HMG)-box found in sex
                     determining region Y (SRY)-box 7 (SOX7) and similar
                     proteins; cd22046"
                     /db_xref="CDD:438849"
     Site            order(46..47,49..50,52..53,57,60,71..73,76..77,80,83,
                     113..114,116..118)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438849"
     Region          140..197
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BT81.1)"
     Region          <198..230
                     /region_name="Sox17_18_mid"
                     /note="Sox 17/18 central domain; pfam12067"
                     /db_xref="CDD:432304"
     CDS             1..388
                     /gene="SOX7"
                     /coded_by="NM_031439.4:79..1245"
                     /db_xref="CCDS:CCDS5977.1"
                     /db_xref="GeneID:83595"
                     /db_xref="HGNC:HGNC:18196"
                     /db_xref="MIM:612202"
ORIGIN      
        1 masllgaypw peglecpald aelsdgqspp avprppgdkg sesrirrpmn afmvwakder
       61 krlavqnpdl hnaelskmlg kswkaltlsq krpyvdeaer lrlqhmqdyp nykyrprrkk
      121 qakrlckrvd pgfllsslsr dqnalpekrs gsrgalgeke drgeyspgta lpslrgcyhe
      181 gpaggggggt pssvdtypyg lptppemspl dvlepeqtff sspcqeehgh prriphlpgh
      241 pyspeyapsp lhcshplgsl algqspgvsm mspvpgcpps payyspatyh plhsnlqahl
      301 gqlspppehp gfdaldqlsq vellgdmdrn efdqylntpg hpdsatgama lsghvpvsqv
      361 tptgptetsl isvladatat yynsysvs
//
LOCUS       NP_001339538             640 aa            linear   PRI 15-MAR-2023
DEFINITION  propionyl-CoA carboxylase alpha chain, mitochondrial isoform h
            precursor [Homo sapiens].
ACCESSION   NP_001339538 XP_005254116
VERSION     NP_001339538.1
DBSOURCE    REFSEQ: accession NM_001352609.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 640)
  AUTHORS   Armstrong AJ, Collado MS, Henke BR, Olson MW, Hoang SA, Hamilton
            CA, Pourtaheri TD, Chapman KA, Summar MM, Johns BA, Wamhoff BR,
            Reardon JE and Figler RA.
  TITLE     A novel small molecule approach for the treatment of propionic and
            methylmalonic acidemias
  JOURNAL   Mol Genet Metab 133 (1), 71-82 (2021)
   PUBMED   33741272
  REMARK    GeneRIF: A novel small molecule approach for the treatment of
            propionic and methylmalonic acidemias.
REFERENCE   2  (residues 1 to 640)
  AUTHORS   Bychkov I, Galushkin A, Filatova A, Nekrasov A, Kurkina M,
            Baydakova G, Ilyushkina A, Skoblov M and Zakharova E.
  TITLE     Functional Analysis of the PCCA and PCCB Gene Variants Predicted to
            Affect Splicing
  JOURNAL   Int J Mol Sci 22 (8), 4154 (2021)
   PUBMED   33923806
  REMARK    GeneRIF: Functional Analysis of the PCCA and PCCB Gene Variants
            Predicted to Affect Splicing.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 640)
  AUTHORS   Du Z, Zhang X, Gao W and Yang J.
  TITLE     Differentially expressed genes PCCA, ECHS1, and HADH are potential
            prognostic biomarkers for gastric cancer
  JOURNAL   Sci Prog 104 (2), 368504211011344 (2021)
   PUBMED   33881965
  REMARK    GeneRIF: Differentially expressed genes PCCA, ECHS1, and HADH are
            potential prognostic biomarkers for gastric cancer.
REFERENCE   4  (residues 1 to 640)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 640)
  AUTHORS   Rivera-Barahona A, Navarrete R, Garcia-Rodriguez R, Richard E,
            Ugarte M, Perez-Cerda C, Perez B, Gamez A and Desviat LR.
  TITLE     Identification of 34 novel mutations in propionic acidemia:
            Functional characterization of missense variants and phenotype
            associations
  JOURNAL   Mol Genet Metab 125 (3), 266-275 (2018)
   PUBMED   30274917
  REMARK    GeneRIF: his work represents a large-scale update on pathogenic
            mutations in the PCCA and PCCB genes causing Propionic acidemia
            (PA), and confirms previous reports indicating a major causative
            role of mutation-induced protein destabilization
REFERENCE   6  (residues 1 to 640)
  AUTHORS   Shchelochkov,O.A., Carrillo,N. and Venditti,C.
  TITLE     Propionic Acidemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22593918
REFERENCE   7  (residues 1 to 640)
  AUTHORS   Kennerknecht I, Klett C and Hameister H.
  TITLE     Assignment of the human gene propionyl coenzyme A carboxylase,
            alpha-chain, (PCCA) to chromosome 13q32 by in situ hybridization
  JOURNAL   Genomics 14 (2), 550-551 (1992)
   PUBMED   1427880
REFERENCE   8  (residues 1 to 640)
  AUTHORS   Lamhonwah AM, Mahuran D and Gravel RA.
  TITLE     Human mitochondrial propionyl-CoA carboxylase: localization of the
            N-terminus of the pro- and mature alpha chains in the deduced
            primary sequence of a full-length cDNA
  JOURNAL   Nucleic Acids Res 17 (11), 4396 (1989)
   PUBMED   2740237
REFERENCE   9  (residues 1 to 640)
  AUTHORS   Lamhonwah,A.M., Quan,F. and Gravel,R.A.
  TITLE     Sequence homology around the biotin-binding site of human
            propionyl-CoA carboxylase and pyruvate carboxylase
  JOURNAL   Arch Biochem Biophys 254 (2), 631-636 (1987)
   PUBMED   3555348
REFERENCE   10 (residues 1 to 640)
  AUTHORS   Lamhonwah,A.M., Barankiewicz,T.J., Willard,H.F., Mahuran,D.J.,
            Quan,F. and Gravel,R.A.
  TITLE     Isolation of cDNA clones coding for the alpha and beta chains of
            human propionyl-CoA carboxylase: chromosomal assignments and DNA
            polymorphisms associated with PCCA and PCCB genes
  JOURNAL   Proc Natl Acad Sci U S A 83 (13), 4864-4868 (1986)
   PUBMED   3460076
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355338.33, AL356575.8,
            AL353697.21 and AL136526.27.
            On Jun 18, 2017 this sequence version replaced XP_005254116.1.
            
            Summary: The protein encoded by this gene is the alpha subunit of
            the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase.
            PCCA encodes the biotin-binding region of this enzyme. Mutations in
            either PCCA or PCCB (encoding the beta subunit) lead to an enzyme
            deficiency resulting in propionic acidemia. Multiple transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, May 2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.66329.1,
                                           SRR1803616.227189.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..640
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.3"
     Protein         1..640
                     /product="propionyl-CoA carboxylase alpha chain,
                     mitochondrial isoform h precursor"
                     /EC_number="6.4.1.3"
                     /note="propionyl Coenzyme A carboxylase, alpha
                     polypeptide; propionyl-CoA carboxylase alpha chain,
                     mitochondrial; PCCase alpha subunit; propanoyl-CoA:carbon
                     dioxide ligase alpha subunit; pccA complementation group;
                     propionyl-CoA carboxylase alpha subunit; propionyl CoA
                     carboxylase, alpha polypeptide"
                     /calculated_mol_wt=65109
     transit_peptide 1..52
                     /note="Mitochondrion.
                     /evidence=ECO:0000269|PubMed:16023992; propagated from
                     UniProtKB/Swiss-Prot (P05165.4)"
                     /calculated_mol_wt=5830
     Region          63..592
                     /region_name="PccA"
                     /note="Acetyl/propionyl-CoA carboxylase, alpha subunit
                     [Lipid transport and metabolism]; COG4770"
                     /db_xref="CDD:227111"
     Site            65
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q91ZA3; propagated from
                     UniProtKB/Swiss-Prot (P05165.4)"
     Site            150
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q91ZA3; propagated from
                     UniProtKB/Swiss-Prot (P05165.4)"
     Site            200
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q91ZA3; propagated from
                     UniProtKB/Swiss-Prot (P05165.4)"
     Site            252
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q91ZA3; propagated from
                     UniProtKB/Swiss-Prot (P05165.4)"
     Site            328
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q91ZA3; propagated from
                     UniProtKB/Swiss-Prot (P05165.4)"
     Site            496
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q91ZA3; propagated from
                     UniProtKB/Swiss-Prot (P05165.4)"
     CDS             1..640
                     /gene="PCCA"
                     /coded_by="NM_001352609.2:29..1951"
                     /note="isoform h precursor is encoded by transcript
                     variant 8"
                     /db_xref="GeneID:5095"
                     /db_xref="HGNC:HGNC:8653"
                     /db_xref="MIM:232000"
ORIGIN      
        1 magfwvgtap lvaagrrgrw ppqqlmlsaa lrtlkhvlyy srqclmvsrn lgsvgydpne
       61 ktfdkilvan rgeiacrvir tckkmgiktv aihsdvdass vhvkmadeav cvgpaptsks
      121 ylnmdaimea ikktraqavh pgygflsenk efarclaaed vvfigpdtha iqamgdkies
      181 kllakkaevn tipgfdgvvk daeeavriar eigypvmika saggggkgmr iawddeetrd
      241 gfrlssqeaa ssfgddrlli ekfidnprhi eiqvlgdkhg nalwlnerec siqrrnqkvv
      301 eeapsiflda etrramgeqa valaravkys sagtveflvd skknfyflem ntrlqvehpv
      361 tecitgldlv qemirvakgy plrhkqadir ingwavecrv yaedpyksfg lpsigrlsqy
      421 qeplhlpgvr vdsgiqpgsd isiyydpmis klitygsdrt ealkrmadal dnyvirgvth
      481 niallrevii nsrfvkgdis tkflsdvypd gfkghmltks eknqllaias slfvafqlra
      541 qhfqensrmp vikpdianwe lsvklhdkvh tvvasnngsv fsvevdgskl nvtstwnlas
      601 pllsvsvdgt qrtvqclsre aggnmsiqfl gtvpwrklld
//
LOCUS       NP_055158                228 aa            linear   PRI 16-MAR-2023
DEFINITION  claudin-15 [Homo sapiens].
ACCESSION   NP_055158
VERSION     NP_055158.1
DBSOURCE    REFSEQ: accession NM_014343.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 228)
  AUTHORS   Rajagopal N and Nangia S.
  TITLE     Unique structural features of claudin-5 and claudin-15 lead to
            functionally distinct tight junction strand architecture
  JOURNAL   Ann N Y Acad Sci 1517 (1), 225-233 (2022)
   PUBMED   36114674
  REMARK    GeneRIF: Unique structural features of claudin-5 and claudin-15
            lead to functionally distinct tight junction strand architecture.
REFERENCE   2  (residues 1 to 228)
  AUTHORS   Hempel C, Rosenthal R, Fromm A, Krug SM, Fromm M, Gunzel D and
            Piontek J.
  TITLE     Tight junction channels claudin-10b and claudin-15: Functional
            mapping of pore-lining residues
  JOURNAL   Ann N Y Acad Sci 1515 (1), 129-142 (2022)
   PUBMED   35650657
  REMARK    GeneRIF: Tight junction channels claudin-10b and claudin-15:
            Functional mapping of pore-lining residues.
REFERENCE   3  (residues 1 to 228)
  AUTHORS   Watanabe M, Higashi T, Ozeki K, Higashi AY, Sugimoto K, Mine H,
            Takagi H, Ozaki Y, Muto S, Okabe N, Matsumura Y, Hasegawa T, Shio
            Y, Suzuki H and Chiba H.
  TITLE     CLDN15 is a novel diagnostic marker for malignant pleural
            mesothelioma
  JOURNAL   Sci Rep 11 (1), 12554 (2021)
   PUBMED   34131154
  REMARK    GeneRIF: CLDN15 is a novel diagnostic marker for malignant pleural
            mesothelioma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 228)
  AUTHORS   Zhang D, Sun B, Zhao X, Sun H, An J, Lin X, Zhu D, Zhao X, Wang X,
            Liu F, Zhang Y, Liu J, Gu Q, Dong X, Qiu Z, Liu Z, Qi H, Che N, Li
            J, Cheng R and Zheng X.
  TITLE     Twist1 accelerates tumour vasculogenic mimicry by inhibiting
            Claudin15 expression in triple-negative breast cancer
  JOURNAL   J Cell Mol Med 24 (13), 7163-7174 (2020)
   PUBMED   32469152
  REMARK    GeneRIF: Twist1 accelerates tumour vasculogenic mimicry by
            inhibiting Claudin15 expression in triple-negative breast cancer.
REFERENCE   5  (residues 1 to 228)
  AUTHORS   Ong MLDM, Yeruva S, Sailer A, Nilsen SP and Turner JR.
  TITLE     Differential regulation of claudin-2 and claudin-15 expression in
            children and adults with malabsorptive disease
  JOURNAL   Lab Invest 100 (3), 483-490 (2020)
   PUBMED   31605016
  REMARK    GeneRIF: Differential regulation of claudin-2 and claudin-15
            expression in children and adults with malabsorptive disease.
REFERENCE   6  (residues 1 to 228)
  AUTHORS   Kiuchi-Saishin Y, Gotoh S, Furuse M, Takasuga A, Tano Y and Tsukita
            S.
  TITLE     Differential expression patterns of claudins, tight junction
            membrane proteins, in mouse nephron segments
  JOURNAL   J Am Soc Nephrol 13 (4), 875-886 (2002)
   PUBMED   11912246
REFERENCE   7  (residues 1 to 228)
  AUTHORS   Tsukita S, Furuse M and Itoh M.
  TITLE     Multifunctional strands in tight junctions
  JOURNAL   Nat Rev Mol Cell Biol 2 (4), 285-293 (2001)
   PUBMED   11283726
  REMARK    Review article
REFERENCE   8  (residues 1 to 228)
  AUTHORS   Heiskala M, Peterson PA and Yang Y.
  TITLE     The roles of claudin superfamily proteins in paracellular transport
  JOURNAL   Traffic 2 (2), 93-98 (2001)
   PUBMED   11247307
  REMARK    Review article
REFERENCE   9  (residues 1 to 228)
  AUTHORS   Yi X, Wang Y and Yu FS.
  TITLE     Corneal epithelial tight junctions and their response to
            lipopolysaccharide challenge
  JOURNAL   Invest Ophthalmol Vis Sci 41 (13), 4093-4100 (2000)
   PUBMED   11095601
REFERENCE   10 (residues 1 to 228)
  AUTHORS   Kniesel U and Wolburg H.
  TITLE     Tight junctions of the blood-brain barrier
  JOURNAL   Cell Mol Neurobiol 20 (1), 57-76 (2000)
   PUBMED   10690502
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ245738.1 and AK056103.1.
            
            Summary: This gene encodes a member of the claudin family. Claudins
            are integral membrane proteins and components of tight junction
            strands. Tight junction strands serve as a physical barrier to
            prevent solutes and water from passing freely through the
            paracellular space between epithelial or endothelial cell sheets,
            and also play critical roles in maintaining cell polarity and
            signal transductions. Alternatively spliced transcript variants
            encoding the same protein have been found for this gene. [provided
            by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (2) has a shorter and alternate 5'
            UTR, as compared to variant 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR279859.229.1, DRR138528.254063.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153946, SAMEA2159764
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308344.10/ ENSP00000308870.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..228
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     Protein         1..228
                     /product="claudin-15"
                     /calculated_mol_wt=24225
     Site            2..24
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P56746.1)"
     Region          3..177
                     /region_name="PMP22_Claudin"
                     /note="PMP-22/EMP/MP20/Claudin family; cl21598"
                     /db_xref="CDD:451326"
     Site            55
                     /site_type="other"
                     /note="Important for Na(+)-selective paracellular ion
                     transport; propagated from UniProtKB/Swiss-Prot
                     (P56746.1)"
     Site            64
                     /site_type="other"
                     /note="Important for Na(+)-selective paracellular ion
                     transport; propagated from UniProtKB/Swiss-Prot
                     (P56746.1)"
     Site            68
                     /site_type="other"
                     /note="Important for the formation of tight-junction
                     strand-like structures. /evidence=ECO:0000250; propagated
                     from UniProtKB/Swiss-Prot (P56746.1)"
     Site            75..99
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P56746.1)"
     Site            111
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P56746.1)"
     Site            116..140
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P56746.1)"
     Region          146..147
                     /region_name="Important for the formation of
                     tight-junction strand-like structures.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P56746.1)"
     Site            160..182
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P56746.1)"
     Region          208..228
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P56746.1)"
     Site            211
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:D3ZQJ0; propagated from
                     UniProtKB/Swiss-Prot (P56746.1)"
     Site            218
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0S5; propagated from
                     UniProtKB/Swiss-Prot (P56746.1)"
     CDS             1..228
                     /gene="CLDN15"
                     /coded_by="NM_014343.3:222..908"
                     /db_xref="CCDS:CCDS5717.1"
                     /db_xref="GeneID:24146"
                     /db_xref="HGNC:HGNC:2036"
                     /db_xref="MIM:615778"
ORIGIN      
        1 msmavetfgf fmatvgllml gvtlpnsywr vstvhgnvit tntifenlwf scatdslgvy
       61 ncwefpsmla lsgyiqacra lmitaillgf lglllgiagl rctnigglel srkaklaata
      121 galhilagic gmvaiswyaf nitrdffdpl ypgtkyelgp alylgwsasl isilgglclc
      181 sacccgsded paasarrpyq apvsvmpvat sdqegdssfg kygrnayv
//
LOCUS       NP_001371719            1099 aa            linear   PRI 18-MAR-2023
DEFINITION  microtubule-associated protein 4 isoform 50 [Homo sapiens].
ACCESSION   NP_001371719
VERSION     NP_001371719.1
DBSOURCE    REFSEQ: accession NM_001384790.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1099)
  AUTHORS   Wang L, Paudyal SC, Kang Y, Owa M, Liang FX, Spektor A, Knaut H,
            Sanchez I and Dynlacht BD.
  TITLE     Regulators of tubulin polyglutamylation control nuclear shape and
            cilium disassembly by balancing microtubule and actin assembly
  JOURNAL   Cell Res 32 (2), 190-209 (2022)
   PUBMED   34782749
REFERENCE   2  (residues 1 to 1099)
  AUTHORS   Thapa N, Chen M, Horn HT, Choi S, Wen T and Anderson RA.
  TITLE     Phosphatidylinositol-3-OH kinase signalling is spatially organized
            at endosomal compartments by microtubule-associated protein 4
  JOURNAL   Nat Cell Biol 22 (11), 1357-1370 (2020)
   PUBMED   33139939
  REMARK    GeneRIF: Phosphatidylinositol-3-OH kinase signalling is spatially
            organized at endosomal compartments by microtubule-associated
            protein 4.
REFERENCE   3  (residues 1 to 1099)
  AUTHORS   Guo Y, Zhang X, Xu Q, Gong F, Shi X, Li C, Huang R, Nie F, Zhu W,
            Li J, Tang J, Li R, Zhang L, Chen L and Ma RZ.
  TITLE     Human Papillomavirus 16 oncoprotein E7 retards mitotic progression
            by blocking Mps1-MAP4 signaling cascade
  JOURNAL   Oncogene 38 (31), 5959-5970 (2019)
   PUBMED   31253867
  REMARK    GeneRIF: study reveals a molecular mechanism by which HPV16E7
            perturbs host mitotic progression by interfering Mps1-MAP4
            signaling cascade, which results in an extended infection window
            and may facilitate the persistent HPV16 infection
REFERENCE   4  (residues 1 to 1099)
  AUTHORS   Zhang S, Deen S, Storr SJ, Yao A and Martin SG.
  TITLE     Expression of Syk and MAP4 proteins in ovarian cancer
  JOURNAL   J Cancer Res Clin Oncol 145 (4), 909-919 (2019)
   PUBMED   30737623
  REMARK    GeneRIF: Results suggest that Syk, MAP4, and calpain-1 expression
            are correlated with each other and these proteins may be involved
            in early stages of tumour spread.
REFERENCE   5  (residues 1 to 1099)
  AUTHORS   Shigematsu H, Imasaki T, Doki C, Sumi T, Aoki M, Uchikubo-Kamo T,
            Sakamoto A, Tokuraku K, Shirouzu M and Nitta R.
  TITLE     Structural insight into microtubule stabilization and kinesin
            inhibition by Tau family MAPs
  JOURNAL   J Cell Biol 217 (12), 4155-4163 (2018)
   PUBMED   30275105
  REMARK    GeneRIF: The strongest bond of MAP4 was found around the
            intertubulin-dimer interface such that MAP4 coexists on the
            microtubule with kinesin-1 bound to the intratubulin-dimer
            interface as well.
REFERENCE   6  (residues 1 to 1099)
  AUTHORS   Ookata K, Hisanaga S, Bulinski JC, Murofushi H, Aizawa H, Itoh TJ,
            Hotani H, Okumura E, Tachibana K and Kishimoto T.
  TITLE     Cyclin B interaction with microtubule-associated protein 4 (MAP4)
            targets p34cdc2 kinase to microtubules and is a potential regulator
            of M-phase microtubule dynamics
  JOURNAL   J Cell Biol 128 (5), 849-862 (1995)
   PUBMED   7876309
REFERENCE   7  (residues 1 to 1099)
  AUTHORS   Chapin SJ, Lue CM, Yu MT and Bulinski JC.
  TITLE     Differential expression of alternatively spliced forms of MAP4: a
            repertoire of structurally different microtubule-binding domains
  JOURNAL   Biochemistry 34 (7), 2289-2301 (1995)
   PUBMED   7857940
REFERENCE   8  (residues 1 to 1099)
  AUTHORS   Chapin SJ and Bulinski JC.
  TITLE     Microtubule stabilization by assembly-promoting
            microtubule-associated proteins: a repeat performance
  JOURNAL   Cell Motil Cytoskeleton 23 (4), 236-243 (1992)
   PUBMED   1477887
  REMARK    Review article
REFERENCE   9  (residues 1 to 1099)
  AUTHORS   West RR, Tenbarge KM and Olmsted JB.
  TITLE     A model for microtubule-associated protein 4 structure. Domains
            defined by comparisons of human, mouse, and bovine sequences
  JOURNAL   J Biol Chem 266 (32), 21886-21896 (1991)
   PUBMED   1718985
REFERENCE   10 (residues 1 to 1099)
  AUTHORS   Chapin SJ and Bulinski JC.
  TITLE     Non-neuronal 210 x 10(3) Mr microtubule-associated protein (MAP4)
            contains a domain homologous to the microtubule-binding domains of
            neuronal MAP2 and tau
  JOURNAL   J Cell Sci 98 (Pt 1), 27-36 (1991)
   PUBMED   1905296
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124916.3 and AC139667.5.
            
            Summary: The protein encoded by this gene is a major non-neuronal
            microtubule-associated protein. This protein contains a domain
            similar to the microtubule-binding domains of neuronal
            microtubule-associated protein (MAP2) and microtubule-associated
            protein tau (MAPT/TAU). This protein promotes microtubule assembly,
            and has been shown to counteract destabilization of interphase
            microtubule catastrophe promotion. Cyclin B was found to interact
            with this protein, which targets cell division cycle 2 (CDC2)
            kinase to microtubules. The phosphorylation of this protein affects
            microtubule properties and cell cycle progression. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Aug 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3555913.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1099
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..1099
                     /product="microtubule-associated protein 4 isoform 50"
                     /note="MAP-4"
                     /calculated_mol_wt=115496
     Region          <592..936
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <948..969
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          971..1000
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     Region          1002..1032
                     /region_name="Tubulin-binding"
                     /note="Tau and MAP protein, tubulin-binding repeat;
                     pfam00418"
                     /db_xref="CDD:425670"
     CDS             1..1099
                     /gene="MAP4"
                     /coded_by="NM_001384790.1:96..3395"
                     /note="isoform 50 is encoded by transcript variant 51"
                     /db_xref="GeneID:4134"
                     /db_xref="HGNC:HGNC:6862"
                     /db_xref="MIM:157132"
ORIGIN      
        1 madlsladal tepspdiege ikrdfiatle aeafddvvge tvgktdyipl ldvdektgns
       61 eskkkpcset sqiedlplpp hpaslsfhlp ldtpsskptl langghgveg sdttgsptef
      121 leekmayqey pnsqnwpedt nfcfqpeqvv dpiqtdpfkm yhdddladlv fpssatadts
      181 ifagqndplk dsygmspcnt avvpqgwsve alnsphsesf vspeavaepp qptavplela
      241 keiemaseer ppaqaleimm glkttdmaps ketemalakd malatkteva lakdmesptk
      301 ldvtlakdmq psmesdmalv kdmelpteke valvkdvrwp tetdvssakn vvlpteteva
      361 pakdvtllke teraspikmd lapskdmgpp kenkketera spikmdlaps kdmgppkenk
      421 ivpakdlvll seievaqand iissteissa ekvalssete valardmtlp petnviltkd
      481 kalpleaeva pvkdmaqlpe teiapakdva pstvkevgll kdmsplsete malgkdvtpp
      541 petevvlikn vclppemeva ltedqvpalk teaplakdgv ltlannvtpa kdvpplsete
      601 atpvpikdme iaqtqkgise dshleslqdv gqsaaptfmi spetvtgtgk kcslpaeeds
      661 vleklgerkp cnsqpselss etsgiarpee grpvvsgtgn dittppnkel ppspekktkp
      721 lattqpakts tskaktqpts lpkqpaptti gglnkkpmsl asglvpaapp krpavasarp
      781 silpskdvkp kpiadakape kraspskpas apasrsgsks tqtvakttta aavastgpss
      841 rspstllpkk ptaiktegkp aevkkmtaks vpadlsrpks tstssmkktt tlsgtapaag
      901 vvpsrvkatp mpsrpsttpf idkkptsakp ssttprlsrl atntsapdlk nvrskvgste
      961 nikhqpgggr vqiqnkkvdi skvsskcgsk anikhkpggg dvkiesqkln fkekaqakvg
     1021 sldnvghlpa ggavkteggg seaplcpgpp ageepaisea apeagaptsa sglnghptls
     1081 gggdqreaqt ldsqiqetn
//
LOCUS       NP_001372103            1123 aa            linear   PRI 19-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 36 isoform 2 [Homo sapiens].
ACCESSION   NP_001372103 XP_005257599
VERSION     NP_001372103.1
DBSOURCE    REFSEQ: accession NM_001385174.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1123)
  AUTHORS   Zhang W, Luo J, Xiao Z, Zang Y, Li X, Zhou Y, Zhou J, Tian Z, Zhu J
            and Zhao X.
  TITLE     USP36 facilitates esophageal squamous carcinoma progression via
            stabilizing YAP
  JOURNAL   Cell Death Dis 13 (12), 1021 (2022)
   PUBMED   36470870
  REMARK    GeneRIF: USP36 facilitates esophageal squamous carcinoma
            progression via stabilizing YAP.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1123)
  AUTHORS   Ling H, Cao CH, Han K, Lv YR, Ma XD, Cao JH, Chen JW, Li S, Lin JL,
            Fang YJ, Pan ZZ, Xie D and Wang FW.
  TITLE     CEP63 upregulates YAP1 to promote colorectal cancer progression
            through stabilizing RNA binding protein FXR1
  JOURNAL   Oncogene 41 (39), 4433-4445 (2022)
   PUBMED   35989368
REFERENCE   3  (residues 1 to 1123)
  AUTHORS   Zhou J, Zhou J, Wu LJ, Li YY, Li MQ and Liao HQ.
  TITLE     CircRNA circUSP36 impairs the stability of NEDD4L mRNA through
            recruiting PTBP1 to enhance ULK1-mediated autophagic granulosa cell
            death
  JOURNAL   J Reprod Immunol 153, 103681 (2022)
   PUBMED   35964538
  REMARK    GeneRIF: CircRNA circUSP36 impairs the stability of NEDD4L mRNA
            through recruiting PTBP1 to enhance ULK1-mediated autophagic
            granulosa cell death.
REFERENCE   4  (residues 1 to 1123)
  AUTHORS   Wang D, Li Z, Li X, Yan C, Yang H, Zhuang T, Wang X, Zang Y, Liu Z,
            Wang T, Jiang R, Su P, Zhu J and Ding Y.
  TITLE     DUB1 suppresses Hippo signaling by modulating TAZ protein
            expression in gastric cancer
  JOURNAL   J Exp Clin Cancer Res 41 (1), 219 (2022)
   PUBMED   35820928
  REMARK    GeneRIF: DUB1 suppresses Hippo signaling by modulating TAZ protein
            expression in gastric cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1123)
  AUTHORS   Sun W, Shen J, Liu J, Han K, Liang L and Gao Y.
  TITLE     Gene Signature and Prognostic Value of Ubiquitin-Specific Proteases
            Members in Hepatocellular Carcinoma and Explored the Immunological
            Role of USP36
  JOURNAL   Front Biosci (Landmark Ed) 27 (6), 190 (2022)
   PUBMED   35748266
  REMARK    GeneRIF: Gene Signature and Prognostic Value of Ubiquitin-Specific
            Proteases Members in Hepatocellular Carcinoma and Explored the
            Immunological Role of USP36.
REFERENCE   6  (residues 1 to 1123)
  AUTHORS   Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI and Mann
            M.
  TITLE     Nucleolar proteome dynamics
  JOURNAL   Nature 433 (7021), 77-83 (2005)
   PUBMED   15635413
REFERENCE   7  (residues 1 to 1123)
  AUTHORS   Kim MS, Yoo KJ, Kang I, Chung HM and Baek KH.
  TITLE     A novel cysteine protease HeLa DUB-1 responsible for cleaving the
            ubiquitin in human ovarian cancer cells
  JOURNAL   Int J Oncol 25 (2), 373-379 (2004)
   PUBMED   15254734
  REMARK    GeneRIF: DUB-1 is present ubuquitously within cells and has
            deubiitinating enzyme activity in vivo and in vitro.
REFERENCE   8  (residues 1 to 1123)
  AUTHORS   Quesada V, Diaz-Perales A, Gutierrez-Fernandez A, Garabaya C, Cal S
            and Lopez-Otin C.
  TITLE     Cloning and enzymatic analysis of 22 novel human ubiquitin-specific
            proteases
  JOURNAL   Biochem Biophys Res Commun 314 (1), 54-62 (2004)
   PUBMED   14715245
REFERENCE   9  (residues 1 to 1123)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
REFERENCE   10 (residues 1 to 1123)
  AUTHORS   Scherl A, Coute Y, Deon C, Calle A, Kindbeiter K, Sanchez JC, Greco
            A, Hochstrasser D and Diaz JJ.
  TITLE     Functional proteomic analysis of human nucleolus
  JOURNAL   Mol Biol Cell 13 (11), 4100-4109 (2002)
   PUBMED   12429849
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022966.13.
            On Jul 8, 2020 this sequence version replaced XP_005257599.1.
            
            Summary: This gene encodes a member of the peptidase C19 or
            ubiquitin-specific protease family of cysteine proteases. Members
            of this family remove ubiquitin molecules from polyubiquitinated
            proteins. The encoded protein may deubiquitinate and stabilize the
            transcription factor c-Myc, also known as MYC, an important
            oncoprotein known to be upregulated in most human cancers. The
            encoded protease may also regulate the activation of autophagy.
            This gene exhibits elevated expression in some breast and lung
            cancers. [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (7), as well as variants 2-6, 8,
            and 9, encodes isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853564.12851.1,
                                           SRR11853563.15039.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000449938.7/ ENSP00000401119.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1123
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..1123
                     /product="ubiquitin carboxyl-terminal hydrolase 36 isoform
                     2"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin specific protease 36; ubiquitin
                     carboxyl-terminal hydrolase 36; ubiquitin thioesterase 36;
                     deubiquitinating enzyme 36; ubiquitin-specific-processing
                     protease 36"
                     /calculated_mol_wt=122777
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P275.4)"
     Region          67..95
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P275.4)"
     Region          121..421
                     /region_name="Peptidase_C19E"
                     /note="A subfamily of Peptidase C19. Peptidase C19
                     contains ubiquitinyl hydrolases. They are intracellular
                     peptidases that remove ubiquitin molecules from
                     polyubiquinated peptides by cleavage of isopeptide bonds.
                     They hydrolyze bonds involving the carboxyl...; cd02661"
                     /db_xref="CDD:239126"
     Site            order(126,131,382,399)
                     /site_type="active"
                     /db_xref="CDD:239126"
     Site            429
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P275.4)"
     Region          430..577
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P275.4)"
     Site            464
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P275.4)"
     Region          <506..840
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            546
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P275.4)"
     Site            582
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9P275.4)"
     Region          589..999
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P275.4)"
     Site            667
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9P275.4)"
     Site            682
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P275.4)"
     Site            713
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P275.4)"
     Site            742
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9P275.4)"
     Site            952
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9P275.4)"
     CDS             1..1123
                     /gene="USP36"
                     /gene_synonym="DUB1"
                     /coded_by="NM_001385174.1:253..3624"
                     /note="isoform 2 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS32755.1"
                     /db_xref="GeneID:57602"
                     /db_xref="HGNC:HGNC:20062"
                     /db_xref="MIM:612543"
ORIGIN      
        1 mpivdklkea lkpgrkdsad dgelgkllas sakkvllqki efepasksfs yqlealksky
       61 vllnpktega srhksgddpp arrqgsehty escgdgvpap qkvlfpterl slrwervfrv
      121 gaglhnlgnt cflnatiqcl tytpplanyl lskeharsch qgsfcmlcvm qnhivqafan
      181 sgnaikpvsf irdlkkiarh frfgnqedah eflrytidam qkaclngcak ldrqtqattl
      241 vhqifggylr srvkcsvcks vsdtydpyld valeirqaan ivralelfvk advlsgenay
      301 mcakckkkvp askrftihrt snvltlslkr fanfsggkit kdvgypefln irpymsqnng
      361 dpvmyglyav lvhsgyscha ghyycyvkas ngqwyqmnds lvhssnvkvv lnqqayvlfy
      421 lripgskksp eglisrtgss slpgrpsvip dhskknigng iisspltgkr qdsgtmkkph
      481 tteeigvpis rngstlglks qngcippklp sgspspklsq tpthmptild dpgkkvkkpa
      541 ppqhfsprta qglpgtsnsn ssrsgsqrqg swdsrdvvls tspkllatat anghglkgnd
      601 esagldrrgs sssspehsas sdstkapqtp rsgaahlcds qetncstagh sktppsgads
      661 ktvklkspvl sntttepast mspppakkla lsakkastlw ratgndlrpp ppspssdlth
      721 pmktshpvva stwpvhrara vspapqsssr lqppfsphpt llsstpkppg tseprscssi
      781 stalpqvned lvslphqlpe aseppqspse krkktfvgep qrlgsetrlp qhireataap
      841 hgkrkrkkkk rpedtaasal qegqtqrqpg spmyrregqa qlpavrrqed gtqpqvngqq
      901 vgcvtdghha ssrkrrrkga eglgeegglh qdplrhscsp mgdgdpeame esprkkkkkk
      961 rkqetqrave edghlkcprs akpqdavvpe ssscapsang wcpgdrmgls qappvswnge
     1021 resdvvqell kyssdkaygr kvltwdgkms avsqdaieds rqartetvvd dwdeefdrgk
     1081 ekkikkfkre krrnfnafqk lqtrrnfwsv thpakaasls yrr
//
LOCUS       NP_001351094             850 aa            linear   PRI 19-MAR-2023
DEFINITION  glutamate receptor 1 isoform 8 precursor [Homo sapiens].
ACCESSION   NP_001351094
VERSION     NP_001351094.1
DBSOURCE    REFSEQ: accession NM_001364165.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 850)
  AUTHORS   Lai SK, Wu KLK, Ma CW, Ng KP, Hu XQ, Tam KW, Yung WH, Wang YT, Wong
            TP, Shum DK and Chan YS.
  TITLE     Timely insertion of AMPA receptor in developing vestibular circuits
            is required for manifestation of righting reflexes and effective
            navigation
  JOURNAL   Prog Neurobiol 221, 102402 (2023)
   PUBMED   36608782
  REMARK    GeneRIF: Timely insertion of AMPA receptor in developing vestibular
            circuits is required for manifestation of righting reflexes and
            effective navigation.
REFERENCE   2  (residues 1 to 850)
  AUTHORS   Ismail V, Zachariassen LG, Godwin A, Sahakian M, Ellard S, Stals
            KL, Baple E, Brown KT, Foulds N, Wheway G, Parker MO, Lyngby SM,
            Pedersen MG, Desir J, Bayat A, Musgaard M, Guille M, Kristensen AS
            and Baralle D.
  TITLE     Identification and functional evaluation of GRIA1 missense and
            truncation variants in individuals with ID: An emerging
            neurodevelopmental syndrome
  JOURNAL   Am J Hum Genet 109 (7), 1217-1241 (2022)
   PUBMED   35675825
  REMARK    GeneRIF: Identification and functional evaluation of GRIA1 missense
            and truncation variants in individuals with ID: An emerging
            neurodevelopmental syndrome.
REFERENCE   3  (residues 1 to 850)
  AUTHORS   Zhao M, Dong J, Liao Y, Lu G, Pan W, Zhou H, Zuo X and Shan B.
  TITLE     MicroRNA miR-18a-3p promotes osteoporosis and possibly contributes
            to spinal fracture by inhibiting the glutamate AMPA receptor
            subunit 1 gene (GRIA1)
  JOURNAL   Bioengineered 13 (1), 370-382 (2022)
   PUBMED   34937502
  REMARK    GeneRIF: MicroRNA miR-18a-3p promotes osteoporosis and possibly
            contributes to spinal fracture by inhibiting the glutamate AMPA
            receptor subunit 1 gene (GRIA1).
REFERENCE   4  (residues 1 to 850)
  AUTHORS   Ge Y and Wang YT.
  TITLE     GluA1-homomeric AMPA receptor in synaptic plasticity and
            neurological diseases
  JOURNAL   Neuropharmacology 197, 108708 (2021)
   PUBMED   34274350
  REMARK    GeneRIF: GluA1-homomeric AMPA receptor in synaptic plasticity and
            neurological diseases.
            Review article
REFERENCE   5  (residues 1 to 850)
  AUTHORS   Melo HM, de Carvalho CR, Hoeller AA, Marques JLB, Linhares MN,
            Lopes MW, Fialho GL, Wolf P, Lin K, Bortolotto ZA, Henley JM,
            D'Avila A, Leal RB and Walz R.
  TITLE     AMPAr GluA1 Phosphorylation at Serine 845 in Limbic System Is
            Associated with Cardiac Autonomic Tone
  JOURNAL   Mol Neurobiol 58 (4), 1859-1870 (2021)
   PUBMED   33404979
  REMARK    GeneRIF: AMPAr GluA1 Phosphorylation at Serine 845 in Limbic System
            Is Associated with Cardiac Autonomic Tone.
REFERENCE   6  (residues 1 to 850)
  AUTHORS   Yakel JL, Vissavajjhala P, Derkach VA, Brickey DA and Soderling TR.
  TITLE     Identification of a Ca2+/calmodulin-dependent protein kinase II
            regulatory phosphorylation site in non-N-methyl-D-aspartate
            glutamate receptors
  JOURNAL   Proc Natl Acad Sci U S A 92 (5), 1376-1380 (1995)
   PUBMED   7877986
REFERENCE   7  (residues 1 to 850)
  AUTHORS   McNamara JO, Eubanks JH, McPherson JD, Wasmuth JJ, Evans GA and
            Heinemann SF.
  TITLE     Chromosomal localization of human glutamate receptor genes
  JOURNAL   J Neurosci 12 (7), 2555-2562 (1992)
   PUBMED   1319477
REFERENCE   8  (residues 1 to 850)
  AUTHORS   Sun W, Ferrer-Montiel AV, Schinder AF, McPherson JP, Evans GA and
            Montal M.
  TITLE     Molecular cloning, chromosomal mapping, and functional expression
            of human brain glutamate receptors
  JOURNAL   Proc Natl Acad Sci U S A 89 (4), 1443-1447 (1992)
   PUBMED   1311100
REFERENCE   9  (residues 1 to 850)
  AUTHORS   Potier MC, Spillantini MG and Carter NP.
  TITLE     The human glutamate receptor cDNA GluR1: cloning, sequencing,
            expression and localization to chromosome 5
  JOURNAL   DNA Seq 2 (4), 211-218 (1992)
   PUBMED   1320959
REFERENCE   10 (residues 1 to 850)
  AUTHORS   Puckett C, Gomez CM, Korenberg JR, Tung H, Meier TJ, Chen XN and
            Hood L.
  TITLE     Molecular cloning and chromosomal localization of one of the human
            glutamate receptor genes
  JOURNAL   Proc Natl Acad Sci U S A 88 (17), 7557-7561 (1991)
   PUBMED   1652753
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010613.6, AC091960.4 and
            AC091962.2.
            
            Summary: Glutamate receptors are the predominant excitatory
            neurotransmitter receptors in the mammalian brain and are activated
            in a variety of normal neurophysiologic processes. These receptors
            are heteromeric protein complexes with multiple subunits, each
            possessing transmembrane regions, and all arranged to form a
            ligand-gated ion channel. The classification of glutamate receptors
            is based on their activation by different pharmacologic agonists.
            This gene belongs to a family of
            alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA)
            receptors. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.133327.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..850
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.2"
     Protein         1..850
                     /product="glutamate receptor 1 isoform 8 precursor"
                     /note="AMPA 1; gluR-1; gluR-A; gluR-K1; AMPA-selective
                     glutamate receptor 1; AMPA receptor subunit GluA1;
                     glutamate receptor, ionotropic, AMPA 1"
                     /calculated_mol_wt=93390
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1945
     Region          26..336
                     /region_name="Periplasmic_Binding_Protein_type1"
                     /note="Type 1 periplasmic binding fold superfamily;
                     cl10011"
                     /db_xref="CDD:447875"
     Region          350..731
                     /region_name="PBP2_iGluR_AMPA_GluR1"
                     /note="The ligand-binding domain of the AMPA
                     (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic
                     acid) subtype GluR1 of ionotropic glutamate receptors, a
                     member of the type 2 periplasmic binding fold protein
                     superfamily; cd13729"
                     /db_xref="CDD:270447"
     Site            order(377,389,393,440..441,444,449..452,687,705..706,
                     709..714,716,719)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:270447"
     Site            order(408,436..438,443,608,611..613,662..663,666,690)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270447"
     Site            order(451..455,709,712,717..718,721)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:270447"
     CDS             1..850
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /coded_by="NM_001364165.2:220..2772"
                     /note="isoform 8 precursor is encoded by transcript
                     variant 10"
                     /db_xref="GeneID:2890"
                     /db_xref="HGNC:HGNC:4571"
                     /db_xref="MIM:138248"
ORIGIN      
        1 mqhifaffct gflgavvgan fpnniqiggl fpnqqsqeha afrfalsqlt eppkllpqid
       61 ivnisdsfem tyrfcsqfsk gvyaifgfye rrtvnmltsf cgalhvcfit psfpvdtsnq
      121 fvlqlrpelq dalisiidhy kwqkfvyiyd adrglsvlqk vldtaaeknw qvtavniltt
      181 teegyrmlfq dlekkkerlv vvdceserln ailgqiikle kngigyhyil anlgfmdidl
      241 nkfkesganv tgfqlvnytd tipakimqqw knsdardhtr vdwkrpkvrf egltgnvqfn
      301 ekgrrtnytl hviemkhdgi rkigywnedd kfvpaatdaq aggdnssvqn rtyivttile
      361 dpyvmlkkna nqfegndrye gycvelaaei akhvgysyrl eivsdgkyga rdpdtkawng
      421 mvgelvygra dvavapltit lvreevidfs kpfmslgisi mikkpqkskp gvfsfldpla
      481 yeiwmcivfa yigvsvvlfl vsrfspyewh seefeegrdq ttsdqsnefg ifnslwfslg
      541 afmqqgcdis prslsgrivg gvwwfftlii issytanlaa fltvermvsp iesaedlakq
      601 teiaygtlea gstkeffrrs kiavfekmwt ymksaepsvf vrtteegmir vrkskgkyay
      661 llestmneyi eqrkpcdtmk vggnldskgy giatpkgsal rnpvnlavlk lneqglldkl
      721 knkwwydkge cgsgggdskd ktsalslsnv agvfyiligg lglamlvali efcyksrses
      781 krmkgfclip qqsineairt stlprnsgag assggsgeng rvvshdfpks mqsipcmshs
      841 sgmplgatgl
//
LOCUS       XP_047283974            1294 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin conjugation factor E4 B isoform X1 [Homo sapiens].
ACCESSION   XP_047283974
VERSION     XP_047283974.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428018.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1294
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1294
                     /product="ubiquitin conjugation factor E4 B isoform X1"
                     /calculated_mol_wt=145222
     Region          583..1203
                     /region_name="Ufd2P_core"
                     /note="Ubiquitin elongating factor core; pfam10408"
                     /db_xref="CDD:431264"
     Region          1217..1290
                     /region_name="RING-Ubox_UBE4B"
                     /note="U-box domain, a modified RING finger, found in
                     ubiquitin conjugation factor E4 B (UBE4B) and similar
                     proteins; cd16658"
                     /db_xref="CDD:438320"
     Site            order(1234,1279..1280,1283,1286..1287,1290)
                     /site_type="other"
                     /note="E2 binding site [polypeptide binding]"
                     /db_xref="CDD:438320"
     CDS             1..1294
                     /gene="UBE4B"
                     /gene_synonym="E4; HDNB1; UBOX3; UFD2; UFD2A"
                     /coded_by="XM_047428018.1:278..4162"
                     /db_xref="GeneID:10277"
                     /db_xref="HGNC:HGNC:12500"
                     /db_xref="MIM:613565"
ORIGIN      
        1 mtpatspiga sgvahrsqss egvsslsssp snsletqsqs lsrsqsmdid gvsceksmsq
       61 vdvdsgienm evdendrrek rslsdkepss gpevseeqal qlvckifrvs wkdrdrdvif
      121 lsslsaqfkq npkevfsdfk dligqilmev lmmstqtrde npfasltats qpiaaaarsp
      181 drnlllntgs npgtspmfcs vasfgassls slyesspapt psfwssvpvm gpslaspsra
      241 asqlavpstp lsphsaasgt aagsqpsspr yrpytvthpw assgvsilss spsppalass
      301 pqavpasssr qrpsstgppl ppaspsatsr rpsslrisps mydnpfsflf lalsgdssde
      361 edeeeddddg dgddeggggg ddfscvqfgs slgasggasn wdsysdhfti etcketdmln
      421 yliecfdrvg ieekkapkmc sqpavsqlls nirsqcisht alvlqgsltq prslqqpsfl
      481 vpymlcrnlp ygfiqelvrt thqdeevfkq ifipilqgla laakecslds dyfkyplmal
      541 gelcetkfgk thpvcnlvas lrlwlpksls pgcgrelqrl sylgaffsfs vfaeddvkvv
      601 ekyfsgpait lentrvvsqs lqhylelgrq elfkilhsil lngetreaal symaavvnan
      661 mkkaqmqtdd rlvstdgfml nflwvlqqls tkikletvdp tyifhprcri tlpndetrvn
      721 atmedvndwl telygdqppf sepkfptecf fltlhahhls ilpscrryir rlrairelnr
      781 tvedlknnes qwkdsplatr hremlkrckt qlkklvrcka cadaglldes flrrclnfyg
      841 lliqlllril dpaypditlp lnsdvpkvfa alpefyvedv aeflffivqy spqalyepct
      901 qdivmflvvm lcnqnyirnp ylvaklvevm fmtnpavqpr tqkffemien hplstkllvp
      961 slmkfytdve htgatsefyd kftiryhist ifkslwqnia hhgtfmeefn sgkqfvryin
     1021 mlindttfll desleslkri hevqeemknk eqwdqlprdq qqarqsqlaq dervsrsyla
     1081 latetvdmfh iltkqvqkpf lrpelgprla amlnfnlqql cgpkcrdlkv enpekygfep
     1141 kklldqltdi ylqldcarfa kaiaddqrsy skelfeevis kmrkagikst iaiekfklla
     1201 ekveeivakn araeidysda pdefrdplmd tlmtdpvrlp sgtimdrsii lrhllnsptd
     1261 pfnrqtltes mlepvpelke qiqawmrekq nsdh
//
LOCUS       XP_005253072             328 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-parvin isoform X1 [Homo sapiens].
ACCESSION   XP_005253072
VERSION     XP_005253072.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005253015.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..328
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..328
                     /product="alpha-parvin isoform X1"
                     /calculated_mol_wt=37440
     Region          47..161
                     /region_name="CH_PARVA_rpt1"
                     /note="first calponin homology (CH) domain found in
                     alpha-parvin; cd21335"
                     /db_xref="CDD:409184"
     Site            order(53,57,108,110..111,114..115,117,129..137,142,
                     144..145,147..148,151..152,155)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409184"
     Region          200..328
                     /region_name="CH_PARVA_rpt2"
                     /note="second calponin homology (CH) domain found in
                     alpha-parvin; cd21337"
                     /db_xref="CDD:409186"
     Site            order(220,224,278,280..281,284..285,287,296..304,309,
                     311..312,314..315,318..319,322)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409186"
     CDS             1..328
                     /gene="PARVA"
                     /gene_synonym="CH-ILKBP; MXRA2"
                     /coded_by="XM_005253015.4:296..1282"
                     /db_xref="GeneID:55742"
                     /db_xref="HGNC:HGNC:14652"
                     /db_xref="MIM:608120"
ORIGIN      
        1 mvselqeegm nainlplspi pfeldpedtm leenevrtmv dpnsrsdpkl qelmkvlidw
       61 indvlvgeri ivkdlaedly dgqvlqklfe kleseklnva evtqseiaqk qklqtvleki
      121 netlklpprs ikwnvdsvha kslvailhll valsqyfrap irlpdhvsiq vvvvqkregi
      181 lqsrqiqeei tgntealsgr herdafdtlf dhapdklnvv kktlitfvnk hlnklnlevt
      241 eletqfadgv ylvllmglle gyfvplhsff ltpdsfeqkv lnvsfafelm qdgglekpkp
      301 rpedivncdl kstlrvlynl ftkyrnve
//
LOCUS       XP_011519249             651 aa            linear   PRI 20-MAR-2023
DEFINITION  non-homologous end joining factor IFFO1 isoform X3 [Homo sapiens].
ACCESSION   XP_011519249
VERSION     XP_011519249.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011520947.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..651
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..651
                     /product="non-homologous end joining factor IFFO1 isoform
                     X3"
                     /calculated_mol_wt=71937
     Region          230..>360
                     /region_name="Filament"
                     /note="Intermediate filament protein; pfam00038"
                     /db_xref="CDD:425436"
     Region          <540..610
                     /region_name="Filament"
                     /note="Intermediate filament protein; pfam00038"
                     /db_xref="CDD:425436"
     CDS             1..651
                     /gene="IFFO1"
                     /gene_synonym="HOM-TES-103; IFFO"
                     /coded_by="XM_011520947.4:14..1969"
                     /db_xref="GeneID:25900"
                     /db_xref="HGNC:HGNC:24970"
                     /db_xref="MIM:610495"
ORIGIN      
        1 mnplfgpnlf llqqeqqgla gplgdslggd hfagggdlpp aplspagpaa ysppgpgpap
       61 paamalrndl gsninvlktl nlrfrcflak vhelerrnrl lekqlqqale egkqgrrglg
      121 rrdqavqtgf vspirplglq lgarpaavcs psarvlgspa rspagplaps aaslssssts
      181 tsttysssar fmpgtiwsfs harrlgpgle ptlvqgpgls wvhpdgvgvq idtitpeira
      241 lynvlakvkr erdeykrrwe eeytvriqlq drvnelqeea qeadacqeel alkveqlkae
      301 lvvfkglmsn nlseldtkiq ekamkvdmdi crriditakl cdvaqqrnce dmiqmfqkkl
      361 vpsmggrkre rkaaveedts lsesegprqp dgdeeestal sineemqrml nqlreydfed
      421 dcdsltweet eetlllwedf sgyamaaaea qgevtsapgl ralwlclssl kptppllsll
      481 cppmwlssst cvsplplsfc fsfssffnqt sslslsltwp fgmrpipsll gwppplpfll
      541 qqqedslekv ikdteslfkt rekeyqetid qielelatak ndmnrhlhey memcsmkrgl
      601 dvqmetcrrl itqsgdrksp aftavplsdp ppppseaeds drdvssdssm r
//
LOCUS       XP_011520046             691 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 770 isoform X1 [Homo sapiens].
ACCESSION   XP_011520046
VERSION     XP_011520046.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521744.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..691
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..691
                     /product="zinc finger protein 770 isoform X1"
                     /calculated_mol_wt=79876
     Region          29..49
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(34,36,38,40..41,44..45,48,62,64,68..69,72..73,76,88,
                     90,92,94..95,98..99,102)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          42..66
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          57..77
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          83..103
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          162..182
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(167,169,171,173..174,177..178,181,195,197,201..202,
                     205..206,209,223,225,227,229..230,233..234,237)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          185..530
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          190..210
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          218..238
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          477..497
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(482,484,486,488..489,492..493,496,510,512,516..517,
                     520..521,524,537,539,541,543..544,547..548)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          505..525
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          627..647
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          640..664
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          655..675
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..691
                     /gene="ZNF770"
                     /gene_synonym="PRO1914"
                     /coded_by="XM_011521744.4:229..2304"
                     /db_xref="GeneID:54989"
                     /db_xref="HGNC:HGNC:26061"
ORIGIN      
        1 mmaennlkml kiqqcvvank lprnrpyvcn icfkhfetps klarhyliht gqkpfecdvc
       61 hktfrqlvhl erhqlthslp fkcsicqrhf knlktfvkhq qlhnetyqnn vkqvrrllea
      121 kqeksmygvy ntftteerwa lhpcsksdpm ysmkrrknih acticgkmfp sqskldrhvl
      181 ihtgqrpfkc vlctksfrqs thlkihqlth seerpfqccf cqkgfkiqsk llkhkqihtr
      241 nkafralllk krrtesrplp nklnanqggf engeigesee nnpldvhsiy ivpfqcpkce
      301 kcfeseqiln ehscfaarsg kipsrfkrsy nyktivkkil aklkrarskk ldnfqsekkv
      361 fkksflrncd lisgeqsseq tqrtfvgslg khgtyktign rkkktltlpf swqnmgknlk
      421 gilttenils idnsvnkkdl sicgssgeef fnncevlqcg fsvprenirt rhkicpcdkc
      481 ekvfpsiskl krhylihtgq rpfgcnicgk sfrqsahlkr heqthneksp yaslcqvefg
      541 nfnnlsnhsg nnvnynasqq cqapgvqkye vsesdqmsgv kaesqdfipg stgqpclpnv
      601 lleseqsnpf csysehqekn dvflyrcsvc aksfrspskl erhylihagq kpfecsvcgk
      661 tfrqaphwkr hqlthfkerp qgkvvaldsv m
//
LOCUS       XP_047291272             212 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein Musashi homolog 2 isoform X7 [Homo sapiens].
ACCESSION   XP_047291272
VERSION     XP_047291272.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435316.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..212
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..212
                     /product="RNA-binding protein Musashi homolog 2 isoform
                     X7"
                     /calculated_mol_wt=22306
     Region          <19..68
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     Region          <20..197
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     CDS             1..212
                     /gene="MSI2"
                     /gene_synonym="MSI2H"
                     /coded_by="XM_047435316.1:72..710"
                     /db_xref="GeneID:124540"
                     /db_xref="HGNC:HGNC:18585"
                     /db_xref="MIM:607897"
ORIGIN      
        1 mpgwefclrc wepvtcstqv edamlmfdkt tnrhrgfgfv tfenedvvek vceihfhein
       61 nkmveckkaq pkevmfppgt rgrarglpyt mdafmlgmgm lgypnfvaty grgypgfaps
      121 ygyqfpgfpa aaygpvaaaa vaaargsgsn parpggfpga nspgpvadly gpasqdsgvg
      181 nyisaaspqp gsgfghgias ipgcpgktgr sf
//
LOCUS       XP_047292625             444 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 232 isoform X1 [Homo sapiens].
ACCESSION   XP_047292625
VERSION     XP_047292625.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436669.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..444
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..444
                     /product="zinc finger protein 232 isoform X1"
                     /calculated_mol_wt=50566
     Region          75..188
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Region          <303..409
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          305..325
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          331..353
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          333..353
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(338,340,342,344..345,348..349,352,366,368,372..373,
                     376..377,380,394,396,398,400..401,404..405,408)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          361..381
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          373..398
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          385..>437
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          389..409
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          417..437
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..444
                     /gene="ZNF232"
                     /gene_synonym="ZSCAN11"
                     /coded_by="XM_047436669.1:670..2004"
                     /db_xref="GeneID:7775"
                     /db_xref="HGNC:HGNC:13026"
                     /db_xref="MIM:616463"
ORIGIN      
        1 meppgpvrgp lqdsswyeps aelvqtrmav sltaaetlal qgtqgqekmm mmgpkeeeqs
       61 ceyetrlpgn hstsqeifrq rfrhlryqet pgprealsql rvlccewlrp ekhtkeqile
      121 flvleqflti lpeelqswvr ghhpksgeea vtvledlekg lepepqvpgp ahgpaqeepw
      181 ekkeslgaaq ealsiqlqpk etqpfpkseq vylhflsvvt edgpepkdkg slpqppitev
      241 esqvfsekla tdtstfeats egtlelqqrn pkaerlrwsp aqeesfrqmv vihkeiptgk
      301 kdhecsecgk tfiynshlvv hqrvhsgekp ykcsdcgktf kqssnlgqhq rihtgekpfe
      361 cnecgkafrw gahlvqhqri hsgekpyecn ecgkafsqss ylsqhrrihs gekpfickec
      421 gkaygwcsel irhrrvhark epsh
//
LOCUS       XP_016881226            1033 aa            linear   PRI 20-MAR-2023
DEFINITION  probable phospholipid-transporting ATPase IIB isoform X24 [Homo
            sapiens].
ACCESSION   XP_016881226
VERSION     XP_016881226.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017025737.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1033
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..1033
                     /product="probable phospholipid-transporting ATPase IIB
                     isoform X24"
                     /calculated_mol_wt=116548
     Region          133..1032
                     /region_name="P-type_ATPase_APLT_Neo1-like"
                     /note="Aminophospholipid translocases (APLTs), similar to
                     Saccharomyces cerevisiae Neo1p and human putative APLT,
                     ATP9B; cd07541"
                     /db_xref="CDD:319841"
     Site            order(469..471,634,658..660,746,793..795,875,878,881,901,
                     904)
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:319841"
     Region          579..661
                     /region_name="Cation_ATPase"
                     /note="Cation transport ATPase (P-type); pfam13246"
                     /db_xref="CDD:433060"
     CDS             1..1033
                     /gene="ATP9B"
                     /gene_synonym="ATPASEP; ATPIIB; hMMR1; HUSSY-20; NEO1L"
                     /coded_by="XM_017025737.2:191..3292"
                     /db_xref="GeneID:374868"
                     /db_xref="HGNC:HGNC:13541"
                     /db_xref="MIM:614446"
ORIGIN      
        1 mdvptpdlvc pdttwamgrv ssygwgvwes rlhalfavqc ryqledesah ldemplmmse
       61 egfeneesdy htlprarimq rkrglewfvc dgwkflctsc cgwlinicrr kkelkartvw
      121 lgcpekceek hprnsiknqk ynvftfipgv lyeqfkffln lyflviscsq fvpalkigyl
      181 ytywaplgfv lavtmtreai defrrfqrdk evnsqlyskl tvrgkvqvks sdiqvgdlii
      241 veknqripsd mvflrtseka gscfirtdql dgetdwklkv avsctqqlpa lgdlfsisay
      301 vyaqkpqmdi hsfegtftre dsdppihesl sientlwast ivasgtvigv viytgketrs
      361 vmntsnpknk vglldlelnr ltkalflalv alsivmvtlq gfvgpwyrnl frflllfsyi
      421 ipislrvnld mgkavygwmm mkdenipgtv vrtstipeel grlvylltdk tgtltqnemi
      481 fkrlhlgtvs ygadtmdeiq shvrdsysqm qsqaggnntg stplrkaqss apkvrksvss
      541 riheavkaiv lchnvtpvye sragvteete faeadqdfsd enrtyqassp devalvqwte
      601 svgltlvsrd ltsmqlktps gqvlsfcilq lfpftseskr mgvivrdest aeitfymkga
      661 dvamspivqy ndwleeecgn mareglrtlv vakkalteeq yqdfepmqss svesthstyt
      721 cahrrlplcp qsrytqakls mhdrslkvaa vveslereme llcltgvedq lqadvrptle
      781 mlrnagikiw mltgdkleta tciaksshlv srtqdihifr qvtsrgeahl elnafrrkhd
      841 calvisgdsl evclkyyehe fvelacqcpa vvccrcsptq karivtllqq htgrrtcaig
      901 dggndvsmiq aadcgigieg kegkqaslaa dfsitqfrhi grllmvhgrn sykrsaalgq
      961 fvmhrgliis tmqavfssvf yfasvplyqg flmvgyatiy tmfpvfslvl dqdvkpemam
     1021 lypelykdlt kgp
//
LOCUS       XP_047300963             881 aa            linear   PRI 20-MAR-2023
DEFINITION  KAT8 regulatory NSL complex subunit 3 isoform X7 [Homo sapiens].
ACCESSION   XP_047300963
VERSION     XP_047300963.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445007.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..881
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..881
                     /product="KAT8 regulatory NSL complex subunit 3 isoform
                     X7"
                     /calculated_mol_wt=93404
     CDS             1..881
                     /gene="KANSL3"
                     /gene_synonym="KIAA1310; NSL3; Rcd1"
                     /coded_by="XM_047445007.1:202..2847"
                     /db_xref="GeneID:55683"
                     /db_xref="HGNC:HGNC:25473"
                     /db_xref="MIM:617742"
ORIGIN      
        1 mahrggerdf qtsarrmgts llfqlsvher eldlvfldhs yakpwsahpd assarptrml
       61 fvtprrqhes tiesdvpidv etvtstpmpl ydnqkarsvm necerhvifa rtdadapppp
      121 edweehvnrt gwtmaqnklf nkilkalqsd rlarlanega cnepvlrrva vdkcarrvrq
      181 alasvswdtk liqwlhttlv etlslpmlaa yldalqtlkg kiptlidrml vssntktgaa
      241 gaealslllk rpwdpavgvl shnkpsklpg spliliassg psssvfptsr rhrfwqsqls
      301 clgkvipvat hllnngsgvg vlqclehmig avrskvleih shfphkpiil igwntgalva
      361 chvsvmeyvt avvclgfpll tvdgprgdvd dplldmktpv lfvigqnslq chpeamedfr
      421 ekiraenslv vvggaddnlr iskakkkseg ltqsmvdrci qdeivdfltg vltraeghmg
      481 seprdqdaek kkkprdvarr dlafevperg srpaspaakl paspsgsedl ssvsssptss
      541 pktkvttvts aqkssqigss qllkrhvqrt eavlthkqaq vpisseppee gekedlrvql
      601 krhhpssplp gsktskrpki kvslisqgdt aggpcapsqg sapeaaggkp itmtlgqasa
      661 gakeltgllt takssssegg vsaspvpsvv ssstapsalh tlqsrlvats pgsslpgats
      721 assllqglsf slqdisskts glpanpspgp apqatsvklp tpmqslgait tgtstivrti
      781 pvattlsslg atpggkptai hqlltnggla klasslpgla qisnqasglk vpttitltlr
      841 gqpsrittls pmgsgaapse esssqvlpss sqgkyctevn t
//
LOCUS       XP_016862142             625 aa            linear   PRI 20-MAR-2023
DEFINITION  kelch-like protein 24 isoform X1 [Homo sapiens].
ACCESSION   XP_016862142
VERSION     XP_016862142.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017006653.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..625
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..625
                     /product="kelch-like protein 24 isoform X1"
                     /calculated_mol_wt=71055
     Region          48..168
                     /region_name="BTB_POZ_KLHL24_KRIP6"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in Kelch-like
                     protein 24 (KLHL24); cd18253"
                     /db_xref="CDD:349562"
     Region          62..591
                     /region_name="PHA03098"
                     /note="kelch-like protein; Provisional"
                     /db_xref="CDD:222983"
     Region          354..393
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          397..466
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          469..514
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          517..556
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          559..604
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          570..616
                     /region_name="Kelch"
                     /note="Kelch domain; smart00612"
                     /db_xref="CDD:128874"
     CDS             1..625
                     /gene="KLHL24"
                     /gene_synonym="CMH29; DRE1; EBS6; EBSSH; KRIP6"
                     /coded_by="XM_017006653.2:285..2162"
                     /db_xref="GeneID:54800"
                     /db_xref="HGNC:HGNC:25947"
                     /db_xref="MIM:611295"
ORIGIN      
        1 mvlilgrrln redlgvrdsp atkrkvfemd pksltgheff dfssgsshae nilqifnefr
       61 dsrlftdvii cvegkefpch ravlsacssy framfcndhr esremlvein gilaeamecf
      121 lqyvytgkvk ittenvqylf etsslfqisv lrdacakfle eqldpcnclg iqrfadthsl
      181 ktlftkcknf alqtfedvsq heefleldkd elidyicsde lvigkeemvf eavmrwvyra
      241 vdlrrpllhe llthvrlpll hpnyfvqtve vdqliqnspe cyqllhearr yhilgnemms
      301 prtrprrstg ysevivvvgg cervggfnlp ytecydpvtg ewkslaklpe ftkseyavca
      361 lrndilvsgg rinsrdvwiy nsqlniwirv aslnkgrwrh kmavllgkgf lktsilgqsw
      421 wltpvipalw eakvyvvggy dgqnrlssve cydsfsnrwt evaplkeavs spavtscvgk
      481 lfvigggpdd ntcsdkvqsy dpetnswllr aaipiakrci tavslnnliy vaggltkaiy
      541 cydpvedywm hvqntfsrqe ncgmsvcngk iyilggrren geatdtilcy dpatsiitgv
      601 aamprpvsyh gcvtihryne kcfkl
//
LOCUS       XP_024309454             329 aa            linear   PRI 20-MAR-2023
DEFINITION  phospholipid scramblase 4 isoform X1 [Homo sapiens].
ACCESSION   XP_024309454
VERSION     XP_024309454.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453686.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..329
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..329
                     /product="phospholipid scramblase 4 isoform X1"
                     /calculated_mol_wt=36874
     Region          100..322
                     /region_name="Scramblase"
                     /note="pfam03803"
                     /db_xref="CDD:252175"
     CDS             1..329
                     /gene="PLSCR4"
                     /gene_synonym="TRA1"
                     /coded_by="XM_024453686.2:80..1069"
                     /db_xref="GeneID:57088"
                     /db_xref="HGNC:HGNC:16497"
                     /db_xref="MIM:607612"
ORIGIN      
        1 msgvvptape qpagemenqt kppdprpdap peynshflpg ppgtavpppt gypgglpmgy
       61 yspqqpstfp lyqpvggihp vryqpgkypm pnqsvpitwm pgptpmancp pgleylvqld
      121 nihvlqhfep lemmtcfetn nrydiknnsd qmvyivtedt ddftrnayrt lrpfvlrvtd
      181 cmgreimtmq rpfrctcccf ccpsarqele vqcppgvtig fvaehwnlcr avysiqnekk
      241 envmrvrgpc stygcgsdsv fevksldgis nigsiirkwn gllsamadad hfdihfpldl
      301 dvkmkamifg acflidfmyf ersppqrsr
//
LOCUS       XP_047272000            2284 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein phosphatase non-receptor type 13 isoform X16 [Homo
            sapiens].
ACCESSION   XP_047272000
VERSION     XP_047272000.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416044.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2284
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..2284
                     /product="tyrosine-protein phosphatase non-receptor type
                     13 isoform X16"
                     /calculated_mol_wt=254385
     Region          3..190
                     /region_name="KIND"
                     /note="kinase non-catalytic C-lobe domain; smart00750"
                     /db_xref="CDD:214801"
     Region          384..479
                     /region_name="FERM_F1_PTPN13"
                     /note="FERM (Four.1 protein, Ezrin, Radixin, Moesin)
                     domain, F1 sub-domain, found in tyrosine-protein
                     phosphatase non-receptor type 13 (PTPN13); cd17195"
                     /db_xref="CDD:340715"
     Region          386..594
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          590..690
                     /region_name="FERM_C_PTPH13"
                     /note="FERM domain C-lobe of Protein tyrosine phosphatase
                     non-receptor 13 (PTPH13); cd13187"
                     /db_xref="CDD:270008"
     Site            order(598,617,619,629)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270008"
     Site            order(633,638..641,671,675,678..679)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270008"
     Site            671..682
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270008"
     Region          885..969
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(897..900,902,954..955,958..959)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          971..1161
                     /region_name="PTN13_u3"
                     /note="Unstructured linker region on PTN13 protein between
                     PDZ; pfam16599"
                     /db_xref="CDD:435452"
     Region          1160..1249
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1171..1174,1176,1233..1234,1237..1238)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1297..1388
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(1309..1312,1314,1369..1370,1373..1374)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1585..1664
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1597..1600,1602,1649..1650,1653..1654)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          1682..1760
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1692..1694,1696,1746..1747,1750..1751)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          2034..2267
                     /region_name="PTPc-N13"
                     /note="catalytic domain of tyrosine-protein phosphatase
                     non-receptor type 13; cd14597"
                     /db_xref="CDD:350445"
     CDS             1..2284
                     /gene="PTPN13"
                     /gene_synonym="FAP-1; hPTP1E; PNP1; PTP-BAS; PTP-BL;
                     PTP1E; PTPL1; PTPLE"
                     /coded_by="XM_047416044.1:481..7335"
                     /db_xref="GeneID:5783"
                     /db_xref="HGNC:HGNC:9646"
                     /db_xref="MIM:600267"
ORIGIN      
        1 mhvslaeale vrggplqeee iwavlnqsae slqelfrkvs ladpaalgfi ispwsllllp
       61 sgsvsftden isnqdlraft apevlqnqsl tslsdvekih iyslgmtlyw gadyevpqsq
      121 piklgdhlns illgmcedvi yarvsvrtvl dacsahirns ncapsfsyvk hlvklvlgnl
      181 sgtdqlscns eqkpdrsqai rdrlrgkglp tepvrrykty hgdvfstsse spsiissesd
      241 frqvrrseas krfesssglp gvdetlsqgq sqrpsrqyet pfegnlinqe imlkrqeeel
      301 mqlqakmalr qsrlslypgd tikasmldit rdplreiale tamtqrklrn ffgpefvkmt
      361 iepfisldlp rsiltkkgkn ednrrkvnim llngqrlelt cdtktickdv fdmvvahigl
      421 vehhlfalat lkdneyffvd pdlkltkvap egwkeepkkk tkatvnftlf frikffmddv
      481 sliqhtltch qyylqlrkdi leermhcdde tslllaslal qaeygdyqpe vhgvsyfrme
      541 hylparvmek ldlsyikeel pklhntyvga seketelefl kvcqrlteyg vhfhrvhpek
      601 ksqtgillgv cskgvlvfev hngvrtlvlr fpwretkkis fskkkitlqn tsdgikhgfq
      661 tdnskicqyl lhlcsyqhkf qlqmrarqsn qdaqdieras frslnlqaes vrgfnmgrai
      721 stgslasstl nklavrplsv qaeilkrlsc selslyqplq nsskekndka sweekprems
      781 ksyhdlsqas lyphrknviv nmepppqtva elvgkpshqm srsdaeslag vtklnnsksv
      841 aslnrsperr khesdsssie dpgqayvldv lhkrwsivss pereitlvnl kkdakyglgf
      901 qiiggekmgr ldlgifissv apggpadldg clkpgdrlis vnsvslegvs hhaaieilqn
      961 apedvtlvis qpkekiskvp stpvhltnem knymkkssym qdsaidsssk dhhwsrgtlr
     1021 hisensfgps gglregslss qdsrtesasl sqsqvngffa shlgdqtwqe sqhgspspsv
     1081 iskateketf tdsnqsktkk pgisdvtdys drgdsdmdea tysssqdhqt pkqessssvn
     1141 tsnkmnfktf sssppkpgdi fevelakndn slgisvtvlf dkggvntsvr hggiyvkavi
     1201 pqgaaesdgr ihkgdrvlav ngvslegath kqavetlrnt gqvvhlllek gqsptskehv
     1261 pvtpqctlsd qnaqgqgpek vkkttqvkdy sfvteentfe vklfknssgl gfsfsrednl
     1321 ipeqinasiv rvkklfpgqp aaesgkidvg dvilkvngas lkglsqqevi salrgtapev
     1381 flllcrpppg vlpeidtall tplqspaqvl pnsskdssqp scveqstssd enemsdkskk
     1441 qckspsrrds ysdssgsged dlvtapanis nstwssalhq tlsnmvsqaq shheapksqe
     1501 dtictmfyyp qkipnkpefe dsnpsplppd mapgqsyqpq sesassssmd kyhihhisep
     1561 trqenwtplk ndlenhledf elevellitl iksekgslgf tvtkgnqrig cyvhdviqdp
     1621 aksdgrlkpg drlikvndtd vtnmthtdav nllraasktv rlvigrvlel pripmlphll
     1681 pditltcnke elgfslcggh dslyqvvyis dinprsvaai egnlqlldvi hyvngvstqg
     1741 mtleevnral dmslpslvlk atrndlpvvp sskrsavsap kstkgngsys vgscsqpalt
     1801 pndsfstvag eeineisypk gkcstyqikg spnltlpkes yiqeddiydd sqeaeviqsl
     1861 ldvvdeeaqn llnennaagy scgpgtlkmn gklseerted tdcdgsplpe yfteatkmng
     1921 ceeyceekvk sesliqkpqe kktdddeitw gndelpiert nhedsdkdhs fltndelavl
     1981 pvvkvlpsgk ytganlksvi rvlrglldqg ipskelenlq elkpldqcli gqtkenrrkn
     2041 ryknilpyda trvplgdegg yinasfikip vgkeefvyia cqgplpttvg dfwqmiweqk
     2101 stviammtqe vegekikcqr ywpnilgktt mvsnrlrlal vrmqqlkgfv vramtlediq
     2161 trevrhishl nftawpdhdt psqpddlltf isymrhihrs gpiithcsag igrsgtlici
     2221 dvvlglisqd ldfdisdlvr cmrlqrhgmv qtedqyifcy qvilyvltrl qaeeeqkqqp
     2281 qllk
//
LOCUS       XP_047273486            1048 aa            linear   PRI 20-MAR-2023
DEFINITION  ran-binding protein 17 isoform X3 [Homo sapiens].
ACCESSION   XP_047273486
VERSION     XP_047273486.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417530.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1048
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..1048
                     /product="ran-binding protein 17 isoform X3"
                     /calculated_mol_wt=119744
     Region          8..>167
                     /region_name="CRM1"
                     /note="Importin beta-related nuclear transport receptor
                     [Nuclear structure / Intracellular trafficking and
                     secretion]; COG5101"
                     /db_xref="CDD:227432"
     Region          30..95
                     /region_name="IBN_N"
                     /note="Importin-beta N-terminal domain; smart00913"
                     /db_xref="CDD:197981"
     CDS             1..1048
                     /gene="RANBP17"
                     /coded_by="XM_047417530.1:17..3163"
                     /db_xref="GeneID:64901"
                     /db_xref="HGNC:HGNC:14428"
                     /db_xref="MIM:606141"
ORIGIN      
        1 malhfqslae levlcthlyi gtdltqriea ekallelids peclskcqll leqgttsyaq
       61 llaatclskl vsrvsplpve qrmdirnyil nyvasqpkla pfviqaliqv iakitklgwf
      121 evqkdqfvfr eiiadvkkfl qgtvehciig viilseltqe mnlvdysrps akhrkiatsf
      181 rdtslkdvlv lacsllkevf akplnlqdqc qqnlvmqvlk lvlnclnfdf igssadesad
      241 dlctvqiptt wrtiflepet ldlffnlyhs lppllsqlgl sdpgnyhefc rflarlktny
      301 qlgelvmvke ypevirlian ftitslqhwe fapnsvhyll tlwqrmvasv pfvkstephl
      361 ldtyapeitk afitsrldsv aivvrdhldd plddtatvfq qleqlctvsr ceyektcall
      421 vqlfdqnaqn yqkllhpysg vtvditiqeg rlawlvylvg tvvggrltyt stdehdamdg
      481 elscrvfqli slmdtglprc cnekielail wfldqfrkty vgdqlqrtsk vyarmsevlg
      541 itddnhvlet fmtkivtnlk ywgryepvis rtlqflndls vgyillkklv kidavkfmlk
      601 nhtsehfpfl gisdnhslsd frcrttfyta ltrllmvdlg ededefenfm lpltvafetv
      661 lqifnnnfkq edvkrmligl ardlrgiafa lntktsytml fdwmyptylp llqnaverwy
      721 geptcttpil klmaelmqnr sqrlnfdvss pngillfrea skmvctygnq ilslgslskd
      781 qiypmklkgi sicysalksa lcgnyvsfgv fklygdnhfd nvlqafvkml lsvshsdllq
      841 yrklsqsyyp llecltqdhm sfiinleppv lmyvltsise glttldtvvs sscctsldyi
      901 vtylfkhiak egkkplrcre atqagqrllh fmqqnpdvlq qmmsvlmnti vfedcrnqws
      961 vsrpllglil lnekyfselr aslinsqplp kqevlaqcfr nlmegveqnl svknrdrftq
     1021 nlsvfrrdva ealrsdgnte pcsldmms
//
LOCUS       XP_047274376            1529 aa            linear   PRI 20-MAR-2023
DEFINITION  regulating synaptic membrane exocytosis protein 1 isoform X11 [Homo
            sapiens].
ACCESSION   XP_047274376
VERSION     XP_047274376.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418420.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1529
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1529
                     /product="regulating synaptic membrane exocytosis protein
                     1 isoform X11"
                     /calculated_mol_wt=170931
     Region          26..149
                     /region_name="PHD_SF"
                     /note="PHD finger superfamily; cl22851"
                     /db_xref="CDD:451427"
     Region          <104..155
                     /region_name="FYVE_like_SF"
                     /note="FYVE domain like superfamily; cl28890"
                     /db_xref="CDD:333710"
     Region          160..>253
                     /region_name="DUF601"
                     /note="Protein of unknown function, DUF601; pfam04642"
                     /db_xref="CDD:282493"
     Region          <226..505
                     /region_name="PLN03237"
                     /note="DNA topoisomerase 2; Provisional"
                     /db_xref="CDD:215641"
     Region          573..658
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(584..587,589,641..642,645..646)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          711..837
                     /region_name="C2A_RIM1alpha"
                     /note="C2 domain first repeat contained in
                     Rab3-interacting molecule (RIM) proteins; cd04031"
                     /db_xref="CDD:175997"
     Site            order(742,748,803,805,813)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:175997"
     Region          1360..1505
                     /region_name="C2B_RIM1alpha"
                     /note="C2 domain second repeat contained in
                     Rab3-interacting molecule (RIM) proteins; cd04028"
                     /db_xref="CDD:175994"
     Site            order(1417,1421..1422,1424,1427,1455,1457,1459,1503..1504)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:175994"
     CDS             1..1529
                     /gene="RIMS1"
                     /gene_synonym="CORD7; RAB3IP2; RIM; RIM1"
                     /coded_by="XM_047418420.1:475..5064"
                     /db_xref="GeneID:22999"
                     /db_xref="HGNC:HGNC:17282"
                     /db_xref="MIM:606629"
ORIGIN      
        1 mssavgprgp rpptvpppmq elpdlshlte eerniimavm drqkeeeeke eamlkrlhqq
       61 fesykeqvrk igeearryqg ehkddaptcg ichktkfadg cghlcsycrt kfcarcggrv
      121 slrsnnvmwv cnlcrkqqei ltksgawffg sgpqqtsqdg tlsdtatgag sevprekkar
      181 lqersrsqtp lstaaassqd aappsappdr skgaepsqqa lgpeqkqass rsrsepprer
      241 kktpglseqn gkgalkserk rvpktsaqpv egaveererk erresrrlek grsqdypdtp
      301 ekrdegkaad eekqrkeedy qtryrsdpnl arypvkpppe eqqmrmharv srarherrhs
      361 dvalprteag aalpegkagk rapaaarasp pdspraysae rtaetrapga kqltnhsppa
      421 prhgpvpaea pelkaqeplr kqsrldpssa vlmrkakrek vetmlrndsl ssdqsesvrp
      481 sppkphrskr ggkkrqmsvs sseeegvstp eytscedvel esesvsekgd ldyywldpat
      541 whsretspis shpvtwqpsk egdrligrvi lnkrttmpkd sgallglkvv ggkmtdlgrl
      601 gafitkvkkg sladvvghlr agdevlewng kplpgatnee vyniilesks epqveiivsr
      661 pigdipripe sshpplesss ssfesqkmer psisvispts pgalkdapqv lpgqlsvklw
      721 ydkvghqliv nvlqatdlpa rvdgrprnpy vkmyflpdrs dkskrrtktv kkilepkwnq
      781 tfvyshvhrr dfrermleit vwdqprvqee eseflgeili eletalldde phwyklqthd
      841 esslplpqps pfmprrhihg essskklqrs qrisdsdisd yevddgigvv ppvgyrssar
      901 esksttltvp eqqrtthhrs rsvsphrgnd qgkprsrlpn vplqrsldei hptrrsrspt
      961 rhhdasrspv dhrtrdvdsq ylseqdsell mlprakrgrs aeclhttrhs rkserssiqk
     1021 qtrkgtasda ermhrqrspt qsppadtsfs srrgrqlpqv pvrsgsieqe qekynsstkg
     1081 irtqvqrdyd icpnclsvvd ykprsfyfrp fplhvgvsyf tslvveertr qmkmkvhrfk
     1141 qttgsgssqe ldreqyskyn ihkdqyrscd nvsakssdsd vsdvsaisrt ssasrlssts
     1201 fmseqserpr grissftpkm qgrrmgtsgr simkstsvsg emytlehndg sqsdtavgtv
     1261 gaggkkrrss lsakvvaivs rrsrstsqls qtesghkklk stiqrstetg maaemrkmvr
     1321 qpsrestdgs insyssegnl ifpgvrlgad sqfsdfldgl gpaqlvgrqt latpamgdiq
     1381 igmedkkgql evevirarsl tqkpgskstp apyvkvylle ngaciakkkt riarktldpl
     1441 yqqslvfdes pqgkvlqviv wgdygrmdhk cfmgvaqill eeldlssmvi gwyklfppss
     1501 lvdptltplt rrasqssles stgppcirs
//
LOCUS       XP_047276775            1103 aa            linear   PRI 20-MAR-2023
DEFINITION  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform
            X4 [Homo sapiens].
ACCESSION   XP_047276775
VERSION     XP_047276775.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420819.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1103
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1103
                     /product="voltage-dependent calcium channel subunit
                     alpha-2/delta-1 isoform X4"
                     /calculated_mol_wt=124552
     Region          104..223
                     /region_name="VWA_N"
                     /note="VWA N-terminal; pfam08399"
                     /db_xref="CDD:429974"
     Region          239..417
                     /region_name="vWA_VGCC_like"
                     /note="VWA Voltage gated Calcium channel like:
                     Voltage-gated calcium channels are a complex of five
                     proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The
                     alpha 2 and delta subunits result from proteolytic
                     processing of a single gene product and carries at...;
                     cd01463"
                     /db_xref="CDD:238740"
     Site            order(259,261,263,331,363)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238740"
     Region          <435..>529
                     /region_name="dCache_1"
                     /note="Cache domain; pfam02743"
                     /db_xref="CDD:426955"
     Region          644..1070
                     /region_name="VGCC_alpha2"
                     /note="Neuronal voltage-dependent calcium channel alpha
                     2acd; pfam08473"
                     /db_xref="CDD:430016"
     CDS             1..1103
                     /gene="CACNA2D1"
                     /gene_synonym="CACNA2; CACNL2A; CCHL2A; DEE110; LINC01112;
                     lncRNA-N3"
                     /coded_by="XM_047420819.1:498..3809"
                     /db_xref="GeneID:781"
                     /db_xref="HGNC:HGNC:1399"
                     /db_xref="MIM:114204"
ORIGIN      
        1 maagcllalt ltlfqsllig psseepfpsa vtikswvdkm qedlvtlakt asgvnqlvdi
       61 yekyqdlytv epnnarqlve iaardiekll snrskalvrl aleaekvqaa hqwredfasn
      121 evvyynakdd ldpekndsep gsqrikpvfi edanfgrqis yqhaavhipt diyegstivl
      181 nelnwtsald evfkknreed psllwqvfgs atglaryypa spwvdnsrtp nkidlydvrr
      241 rpwyiqgaas pkdmlilvdv sgsvsgltlk lirtsvseml etlsdddfvn vasfnsnaqd
      301 vscfqhlvqa nvrnkkvlkd avnnitakgi tdykkgfsfa feqllnynvs rancnkiiml
      361 ftdggeeraq eifnkynkdk kvrvftfsvg qhnydrgpiq wmacenkgyy yeipsigair
      421 intqeyldvl grpmvlagdk akqvqwtnvy ldalelglvi tgtlpvfnit gqfenktnlk
      481 nqlilgvmgv dvsledikrl tprftlcpng yyfaidpngy vllhpnlqpk pigvgiptin
      541 lrkrrpniqn pksqepvtld fldaelendi kveirnkmid gesgektfrt lvksqderyi
      601 dkgnrtytwt pvngtdysla lvlptysfyy ikakleetit qarysetlkp dnfeesgytf
      661 iaprdycndl kisdnntefl lnfnefidrk tpnnpscnad linrvlldag ftnelvqnyw
      721 skqknikgvk arfvvtdggi trvypkeage nwqenpetye dsfykrsldn dnyvftapyf
      781 nksgpgayes gimvskavei yiqgkllkpa vvgikidvns wienftktsi rdpcagpvcd
      841 ckrnsdvmdc vilddggfll manhddytnq igrffgeidp slmrhlvnis vyafnksydy
      901 qsvcepgaap kqgaghrsay vpsvadilqi gwwataaaws ilqqfllslt fprlleavem
      961 edddftasls kqsciteqtq yffdndsksf sgvldcgncs rifhgeklmn tnlifimves
     1021 kgtcpcdtrl liqaeqtsdg pnpcdmvkqp ryrkgpdvcf dnnvldqlkc ttsractmms
     1081 apifillqvf mwcgwsvtfs nfs
//
LOCUS       XP_047277127             417 aa            linear   PRI 20-MAR-2023
DEFINITION  G patch domain-containing protein 8-like [Homo sapiens].
ACCESSION   XP_047277127
VERSION     XP_047277127.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421171.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..417
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..417
                     /product="G patch domain-containing protein 8-like"
                     /calculated_mol_wt=44819
     Region          150..>353
                     /region_name="PRK12678"
                     /note="transcription termination factor Rho; Provisional"
                     /db_xref="CDD:237171"
     CDS             1..417
                     /gene="LOC124901807"
                     /coded_by="XM_047421171.1:87..1340"
                     /db_xref="GeneID:124901807"
ORIGIN      
        1 mkprqkeqdt rlrklresse gdqwlenekt kplrpqqqpq cqpaggtgqr rgsgsspsad
       61 qqgaqdreee aaaapaptsr ghrtekrkpq qpqrrpaggt gqrrgsrsss sadqqgaqdr
      121 eeeaaaapap tssghrtekr kpqqpqcrpa agtgqrrgsg cspsadqqra qdreeeataa
      181 pvptssghrt ekrkrlqlqc qpaggtgqrr gsrsspsrqp aggtgqrrgs rsspsadqqr
      241 aqdreeeaaa apaptsrghr tekrkpqqpq rrpaggtgqr rgsgyspsad qqgaqdreee
      301 aaaapaptss ghrtekrkrl qlqcqpaggt gqrrgsgcss sanqqgaqdr eeeaaaapvp
      361 tssghrtekr kpqqpqrrpa agtgqrrgsg sspsadqqra qdreeevrkw kkrvdls
//
LOCUS       XP_047277599             795 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA repair-scaffolding protein isoform X11 [Homo sapiens].
ACCESSION   XP_047277599
VERSION     XP_047277599.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421643.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 12% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..795
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..795
                     /product="DNA repair-scaffolding protein isoform X11"
                     /calculated_mol_wt=87138
     Region          11..369
                     /region_name="DUF4502"
                     /note="Domain of unknown function (DUF4502); pfam14950"
                     /db_xref="CDD:434340"
     Region          521..>794
                     /region_name="DUF4503"
                     /note="Domain of unknown function (DUF4503); pfam14951"
                     /db_xref="CDD:434341"
     CDS             1..795
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /coded_by="XM_047421643.1:82..2469"
                     /db_xref="GeneID:23514"
                     /db_xref="HGNC:HGNC:28971"
                     /db_xref="MIM:615384"
ORIGIN      
        1 mprgsrargs krkrswntec psfpgerplq vrraglrtag aaaslseawl rcgegfqnts
       61 gnpsltaeek titekhlelc prpkqettts kstsgltdit wsssgsdlsd edktlsqlqr
      121 delqfidwei dsdraeasdc defeddegav eisdcascas nqsltsdekl selpkpssie
      181 ileyssdsek eddlenvlli dsesphkyhv qfasdarqim erlidprtks tetilhtpqk
      241 ptakfprtpe nsakkkllrg glaerlnglq nrersaislw rhqcisyqkt lsgrksgvlt
      301 vkilelheec amqvamceql lgspatsssq svaprpgagl kvlftketag ylrgrpqdtv
      361 rifppwqkli ipsgscpvil ntyfcekvva kedsektcev ycpdiplprr sislaqmfvi
      421 kgltnnspei qvvcsgvatt gtawthghke akqriptstp lrdslldvve sqgaaswpga
      481 gvrvvvqrvy slpsrdstrg qqgassghtd pagtracllv qdacgmfgev hleftmskar
      541 qlegkscslv gmkvlqkvtr grtagifsli dtlwppaipl ktpgrdqpce eikthlpppa
      601 lcyiltahpn lgqidiided piyklyqppv trclrdilql kslllleqre iwllvtdvtl
      661 qtkeerdprl pktllvyvap lcvlgsevle alagaaphsl ffkdalrdqg rivcaertvl
      721 llqkpllsvv sgasscelpg pvmldsldsa tpvnsicsvq gtvvgvdest afswpvcdmc
      781 gngrleqrpe dratk
//
LOCUS       XP_005272416             493 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing protein 14 isoform X1 [Homo
            sapiens].
ACCESSION   XP_005272416
VERSION     XP_005272416.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005272359.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..493
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..493
                     /product="leucine-rich repeat-containing protein 14
                     isoform X1"
                     /calculated_mol_wt=54382
     Region          221..>413
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          286..309
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          311..337
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          338..361
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          367..394
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..493
                     /gene="LRRC14"
                     /gene_synonym="LRRC14A"
                     /coded_by="XM_005272359.6:143..1624"
                     /db_xref="GeneID:9684"
                     /db_xref="HGNC:HGNC:20419"
                     /db_xref="MIM:619368"
ORIGIN      
        1 mhtlvflstr qvlqcqpaac qalpllprel fpllfkvafm dkktvvlrel vhtwpfplls
       61 fqqllqecah csrallqerp stesmqavil gltarlhtse pgastqplcr khalrvldmt
      121 gllddgveqd pgtmsmwdct aavartciaq qqggaaepgp apipvevrvd lrvnrasyaf
      181 lrealrssvg splrlccrdl raedlpmrnt vallqlldag clrrvdlrfn nlglrglsvi
      241 iphvarfqhl aslrlhyvhg dsrqpsvdge dnfryflaqm grftclrels mgssllsgrl
      301 dqllstlqsp leslelafca llpedlrfla rsphaahlkk ldlsgndlsg sqlapfqgll
      361 qasaatllhl eltecqladt qllatlpilt qcaslrylgl ygnplsmagl kellrdsvaq
      421 aelrtvvhpf pvdcyeglpw pppasvllea sineekfarv eaelhqllla sgrahvlwtt
      481 diygrlaady fsl
//
LOCUS       XP_047278659             333 aa            linear   PRI 20-MAR-2023
DEFINITION  PC4 and SFRS1-interacting protein isoform X2 [Homo sapiens].
ACCESSION   XP_047278659
VERSION     XP_047278659.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422703.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..333
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..333
                     /product="PC4 and SFRS1-interacting protein isoform X2"
                     /calculated_mol_wt=37594
     Region          5..92
                     /region_name="PWWP_PSIP"
                     /note="PWWP domain found in PC4 and SFRS1-interacting
                     protein (PSIP); cd20151"
                     /db_xref="CDD:438979"
     Site            order(14,16..17,19,72,74)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438979"
     Site            order(18,21,44)
                     /site_type="other"
                     /note="putative methyl-histone binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438979"
     Site            19..22
                     /site_type="other"
                     /note="PWWP sequence motif"
                     /db_xref="CDD:438979"
     Region          <89..>325
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     CDS             1..333
                     /gene="PSIP1"
                     /gene_synonym="DFS70; LEDGF; p52; p75; PAIP; PSIP2"
                     /coded_by="XM_047422703.1:293..1294"
                     /db_xref="GeneID:11168"
                     /db_xref="HGNC:HGNC:9527"
                     /db_xref="MIM:603620"
ORIGIN      
        1 mtrdfkpgdl ifakmkgyph wparvdevpd gavkpptnkl pifffgthet aflgpkdifp
       61 ysenkekygk pnkrkgfneg lweidnnpkv kfssqqaatk qsnassdvev eeketsvske
      121 dtdheekasn edvtkavdit tpkaarrgrk rkaekqvete eagvvttata svnlkvspkr
      181 grpaatevki pkprgrpkmv kqpcpsesdi iteedkskkk gqeekqpkkq pkkdeegqke
      241 edkprkepdk kegkkevesk rknlaktgvt stsdseeegd dqegekkrkg grnfqtahrr
      301 nmlkgqheke aadrkrkqee qmetehqttc nlq
//
LOCUS       XP_047280058             469 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine deaminase isoform X6 [Homo sapiens].
ACCESSION   XP_047280058
VERSION     XP_047280058.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424102.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 11% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..469
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..469
                     /product="guanine deaminase isoform X6"
                     /calculated_mol_wt=52595
     Region          2..442
                     /region_name="GDEase"
                     /note="Guanine deaminase (GDEase). Guanine deaminase is an
                     aminohydrolase responsible for the conversion of guanine
                     to xanthine and ammonia, the first step to utilize guanine
                     as a nitrogen source. This reaction also removes the
                     guanine base from the pool and...; cd01303"
                     /db_xref="CDD:238628"
     Site            order(42,44,238,241,277,328)
                     /site_type="active"
                     /db_xref="CDD:238628"
     CDS             1..469
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /coded_by="XM_047424102.1:650..2059"
                     /db_xref="GeneID:9615"
                     /db_xref="HGNC:HGNC:4212"
                     /db_xref="MIM:139260"
ORIGIN      
        1 mivfleeasq qeklakewcf kpceirelsh heffmpglvd thihasqysf agssidlpll
       61 ewltkytfpa ehrfqnidfa eevytrvvtl ellmsvlvkk tlffhkggnm eckqpsqghv
      121 annrqnrrtl kngtttacyf atihtdssll laditdkfgq rafvgkvcmd lndtfpeyke
      181 tteesikete rfvsemlqkn ysrvkpivtp rfslscsetl mgelgniakt rdlhiqshis
      241 enrdeveavk nlypsyknyt svydknnllt nktvmahgcy lsaeelnvfh ergasiahcp
      301 nsnlslssgf lnvlevlkhe vkiglgtdva ggysysmlda irravmvsni llinkvneks
      361 ltlkevfrla tlggsqalgl dgeignfevg kefdailinp kasdspidlf ygdffgdise
      421 aviqkflylg ddrnieevyv ggkqvvpfss svketihlpa ssphpppfp
//
LOCUS       XP_047280192            2332 aa            linear   PRI 20-MAR-2023
DEFINITION  protein transport protein Sec16A isoform X13 [Homo sapiens].
ACCESSION   XP_047280192
VERSION     XP_047280192.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424236.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2332
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..2332
                     /product="protein transport protein Sec16A isoform X13"
                     /calculated_mol_wt=248687
     Region          <4..298
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1497..1803
                     /region_name="ACE1-Sec16-like"
                     /note="Ancestral coatomer element 1 (ACE1) of COPII coat
                     complex assembly protein Sec16; cd09233"
                     /db_xref="CDD:187750"
     Site            order(1616..1617,1619..1620,1622..1626,1628,1630,1640,
                     1642,1644..1645,1647..1648,1652,1658,1665,1674,1679,1682,
                     1710..1711)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:187750"
     CDS             1..2332
                     /gene="SEC16A"
                     /gene_synonym="KIAA0310; p250; SEC16L"
                     /coded_by="XM_047424236.1:345..7343"
                     /db_xref="GeneID:9919"
                     /db_xref="HGNC:HGNC:29006"
                     /db_xref="MIM:612854"
ORIGIN      
        1 mqpppqtvps gmagpppagn prsvfwassp yrrrannnaa vapttcplqp vtdpfafsrq
       61 alqstplgss skssppvlqg papagfsqhp gllvphthar dssqgpcepl pgpltqprah
      121 aspfsgaltp sappgpemnr saevgpssep evqtlpylph yipgvdpets hgghphgnmp
      181 gldrplsrqn phdgvvtpaa spslpqpglq mpgqwgpvqg gpqpsgqhrs pcpegpvpsg
      241 vpcatsvphf ptpsilhqgp gheqhsplva ppaalpsdgr devshlqsgs hlannsdpes
      301 tfrqnprivn hwaspelrqn pgvknehrpa salvnplarg dspenrthhp lgagagsgca
      361 pleadsgasg alamffqgge teneenlsse kaglsgqadf ddfcsspglg rppapthvga
      421 gslcqallpg psneaagdvw gdtastgvpd asgsqyenve nlefvqnqev lpseplnldp
      481 sspsdqfryg plpgpavprh gavchtgapd atlhtvhpds vsssyssrsh grlsgsarpq
      541 elvgtfiqqe vgkpedeasg sffkqidssp vggetdettv sqnyrgsvsq pstpsppkpt
      601 gifqtsanss fepvkshlvg vkpfeadran vvgevretcv rqkqcrpaaa lpdaspgnle
      661 qppdnmetlc apqvcplpln stteavhmlp hagappldtv ypapekrpsa rtqgpvkces
      721 pattlwaqse lpdfggnvll apaapalyvc akpqppvvqp peeamsgqqs rnpssaapvq
      781 srggigasen lenppkmgee ealqsqassg yasllssppt eslqnppvli aqpdhsynla
      841 qpinfsvsls nsheknqswr ealvgdrpav sswalggdsg entslsgipt ssvlslslps
      901 svaqsnfpqg sgasemvsnq panllvqpps qpvpenlvpe sqkdrkagsa lpgfanspag
      961 stsvvlvppa hgtlvpdgnk anhsshqedt ygaldftlsr tlenpvnvyn pshsdslasq
     1021 qsvashprqs gpgapnldrf yqqvtkdaqg qpgleraqqe lvppqqqasp pqlpkamfse
     1081 lsnpeslpaq gqaqnsaqsp aslvlvdagq qlpprppqss svslvssgsg qaavpseqpw
     1141 pqpvpalapg pppqdlaayy yyrplydayq pqyslpyppe pgaaslyyqd vyslyepryr
     1201 pydgaasaya qnyrypeper pssrashsse rppprqgype gyyssksgws sqsdyyasyy
     1261 ssqydygdpg hwdryhysar vrdprtydrr ywcdaeyday rrehsafgdr pekrdnnwry
     1321 dprftgsfdd dpdphrdpyg eevdrrsvhs ehsarslhsa hslasrrssl sshshqsqiy
     1381 rshnvaagsy eaplppgsfh gdfaygtyrs nfssgpgfpe ygypadtvwp ameqvssrpt
     1441 spekfsvphv carfgpggql ikvipnlpse gqpalvevhs meallqhtse qeemrafpgp
     1501 lakddthkvd vinfaqnkam kclqnenlid kesasllwnf ivllcrqngt vvgtdiaell
     1561 lrdhrtvwlp gkspneanli dftneaveqv eeeesgeaql sfltggpaaa asslereter
     1621 frelllygrk kdalesamkn glwghallla skmdsrthar vmtrfanslp indplqtvyq
     1681 lmsgrmpaas tccgdekwgd wrphlamvls nlnnnmdves rtmatmgdtl asrglldaah
     1741 fcylmaqagf gvytkkttkl vligsnhslp flkfatneai qrteayeyaq slgaetcplp
     1801 sfqmasqlrl fdpqlkekpe eeslaaptwl vhlqqverqi kegagvwhqd galpqqcpgt
     1861 pssemeqldr pglsqpgalg ianpllavpa pspehsspsv rllpsapqtl pdgplaspar
     1921 vpmfpvplpp gplepgpgcv tpgpalgfle psgpglppgv pplqerrhll qearspdpgi
     1981 vpqeapvgns lselseenfd gkfanltpsr tvpdseappg wdradsgptq pplslspape
     2041 tkrpgqaakk etkepkkges wffrwlpgkk kteaylpddk nksivwdekk nqwvnlnepe
     2101 eekkappppp tsmpktvqaa ppalpgppga pvnmysrraa gtraryvdvl npsgtqrsep
     2161 alapadfvap laplpipsnl fvptpvssvr pqgrsgrndg llalsspdae epqlpdgtgr
     2221 egpaaargla npepapepkv lssaaslpgs elpssrpegs qggelsrcss msslsrevsq
     2281 hfnqapgdlp aaggppsgam pfynpaqlaq acatsgssrl grigqrkhlv ln
//
LOCUS       XP_005272646             319 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein CXorf38 isoform X1 [Homo sapiens].
ACCESSION   XP_005272646
VERSION     XP_005272646.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005272589.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Mar 12, 2015 this sequence version replaced XP_005272646.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..319
                     /product="uncharacterized protein CXorf38 isoform X1"
                     /calculated_mol_wt=36539
     Region          9..310
                     /region_name="DUF4559"
                     /note="Domain of unknown function (DUF4559); pfam15112"
                     /db_xref="CDD:434468"
     CDS             1..319
                     /gene="CXorf38"
                     /coded_by="XM_005272589.4:42..1001"
                     /db_xref="GeneID:159013"
                     /db_xref="HGNC:HGNC:28589"
ORIGIN      
        1 mvlselaarl ncaeyknwvk aghcllllrs clqgfvgrev lsfhrgllaa apglgpravc
       61 rggsrcspra rqfqpqcqvc aewkreilrh hvnrngdvhw gncrpgrwpv dawevakafm
      121 prgladkqgp eecdavalls linscdhfvv drkkvtevik crneimhsse mkvsstwlrd
      181 fqmkiqnfln efknipeiva vysrieqllt sdwavhipee dqrdgcecem gtylsesqvn
      241 eiemqllkek lqeiylqaee qevlpeelsn rlevvkeflr nnedlrnglt edmqkldslc
      301 lhqkldsqep grqtpdrka
//
LOCUS       XP_054187983             416 aa            linear   PRI 20-MAR-2023
DEFINITION  RUN and FYVE domain-containing protein 1 isoform X6 [Homo sapiens].
ACCESSION   XP_054187983
VERSION     XP_054187983.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332008.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_016107298.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..416
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     Protein         1..416
                     /product="RUN and FYVE domain-containing protein 1 isoform
                     X6"
                     /calculated_mol_wt=48051
     CDS             1..416
                     /gene="RUFY1"
                     /gene_synonym="RABIP4; ZFYVE12"
                     /coded_by="XM_054332008.1:307..1557"
                     /db_xref="GeneID:80230"
                     /db_xref="HGNC:HGNC:19760"
                     /db_xref="MIM:610327"
ORIGIN      
        1 mdgfllvgvi dfslylkdvq dldggkdctv gdlqtkidgl ektnsklqee lsaatdrics
       61 lqeeqqqlre qnelirerse ksveitkqdt kveletykqt rqgldemysd vwkqlkeekk
      121 vrlelekele lqigmkteme iamkllekdt hekqdtlval rqqleevkai nlqmfhkaqn
      181 aesslqqkne aitsfegktn qvmssmkqme erlqhserar qgaeershkl qqelggriga
      241 lqlqlsqlhe qcsslekelk sekeqrqalq relqhekdts sllrmelqqv eglkkelrel
      301 qdekaelqki ceeqeqalqe mglhlsqskl kmedikevnq alkghawlkd deathcrqce
      361 kefsisrrkh hcrncghifc ntcssnelal psypkpvrvc dschtlllqr csstas
//
LOCUS       XP_054189342             664 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 185 isoform X20 [Homo sapiens].
ACCESSION   XP_054189342
VERSION     XP_054189342.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333367.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791818) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..664
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..664
                     /product="zinc finger protein 185 isoform X20"
                     /calculated_mol_wt=70734
     CDS             1..664
                     /gene="ZNF185"
                     /gene_synonym="SCELL"
                     /coded_by="XM_054333367.1:218..2212"
                     /db_xref="GeneID:7739"
                     /db_xref="HGNC:HGNC:12976"
                     /db_xref="MIM:300381"
ORIGIN      
        1 msisalggrt kgkplppgee ernnvlkqmk vrttlkgdks witkqdeseg rtielpsgrs
       61 ratsfssage vpkprppstr aptgyiirgv ftkpidsssq pqqqfpkang tpksaaslvr
      121 tanagpprps ssgykmtted ykklapynir rsstsgdtee eeeeevvpfs sdeqkrsspt
      181 qetqapfiak rvevveedgp seksqdppal arstpgsnss rgeeivrlqi ltpraglrlv
      241 apdvegmrss pgnkdkeapc srelqrdlag eeafrapntd aarssaqlsd gnvgsgatgs
      301 rpeglaavdi gsergrlcaa asfasfledq dghsansqsc kprpaaisss atsvsavpad
      361 rksnstaaqe dakadpkgal adyegkdvat rvgeawqerp gaprggqgdp avpaqqpadp
      421 stperqssps gseqlvrres cgssvltdfe gkdvatkvge awqdrpgapr ggqgdpavpt
      481 qqpadpstpe qqnspsgseq fvrresctsr vrspsscmvt vtvtatseqp hiyipapase
      541 ldsssttkgi lfvkeyvnas evssgkpvsa rysnvssied sfamekkppc gstpysertt
      601 ggictycnre irdcpkitle hlgiccheyc fkcgicskpm gdlldqifih rdtihcgkcy
      661 eklf
//
LOCUS       XP_054189942             561 aa            linear   PRI 20-MAR-2023
DEFINITION  tudor and KH domain-containing protein isoform X1 [Homo sapiens].
ACCESSION   XP_054189942
VERSION     XP_054189942.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054333967.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..561
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..561
                     /product="tudor and KH domain-containing protein isoform
                     X1"
                     /calculated_mol_wt=61915
     CDS             1..561
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /coded_by="XM_054333967.1:158..1843"
                     /db_xref="GeneID:11022"
                     /db_xref="HGNC:HGNC:11713"
                     /db_xref="MIM:609501"
ORIGIN      
        1 mstertswts lstiqkialg lgipasatva yilyrryres reerltfvge ddieiemrvp
       61 qeavkliigr qganikqlrk qtgaridvdt edvgdervll isgfpvqvck akaaihqilt
      121 entpvseqls vpqrsvgrii grggetirsi ckasgakitc dkesegtlll srlikisgtq
      181 kevaaakhli lekvsedeel rkriahsaet rvprkqpisv rredmtepgg agepalwknt
      241 sssmeptapl vtpppkgggd mavvvskegs wekpsddsfq kseaqaipem pmfeipspdf
      301 sfhadeylev yvsasehpnh fwiqivgsrs lqldklvnem tqhyensvpe dltvhvgdiv
      361 aaplptngsw yrarvlgtle ngnldlyfvd fgdngdcplk dlralrsdfl slpfqaiecs
      421 lariapsgdq weeealdefd rlthcadwkp lvakissyvq tgistwpkiy lydtsngkkl
      481 diglelvhkg yaielpedie enravpdmlk dmatetdasl stlltetkks sgeithtlsc
      541 lslseaasms gddnleddyl l
//
LOCUS       XP_054190216             200 aa            linear   PRI 20-MAR-2023
DEFINITION  tudor domain-containing protein 10 isoform X9 [Homo sapiens].
ACCESSION   XP_054190216
VERSION     XP_054190216.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334241.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..200
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..200
                     /product="tudor domain-containing protein 10 isoform X9"
                     /calculated_mol_wt=22151
     CDS             1..200
                     /gene="TDRD10"
                     /coded_by="XM_054334241.1:477..1079"
                     /db_xref="GeneID:126668"
                     /db_xref="HGNC:HGNC:25316"
ORIGIN      
        1 mrgsflvlll recfqdlswl alihsvrgea gllvtsivpk tpffwamhvt ealhqnmqal
       61 fstlaqaeeq qpylegstvm rgtrclaeyh lgdyghawnr cwvldrvdtw avvmfidfgq
      121 latipvqslr sldsddfwti ppltqpfmle kdilssyevv hrilkgkitg alnsavtapa
      181 snlavvppll plgclqqaaa
//
LOCUS       XP_054194119            1317 aa            linear   PRI 20-MAR-2023
DEFINITION  tenascin-N isoform X1 [Homo sapiens].
ACCESSION   XP_054194119
VERSION     XP_054194119.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338144.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1317
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1317
                     /product="tenascin-N isoform X1"
                     /calculated_mol_wt=145967
     CDS             1..1317
                     /gene="TNN"
                     /gene_synonym="TN-W; TNW"
                     /coded_by="XM_054338144.1:588..4541"
                     /db_xref="GeneID:63923"
                     /db_xref="HGNC:HGNC:22942"
                     /db_xref="MIM:617472"
ORIGIN      
        1 mcchehsile gllpvfprms lqemfrfpmg lllgsvllva sapatleppg csnkeqqvtv
       61 shtykidvpk salvqvdadp qplsddgasl lalgeareeq niifrhnirl qtpqkdcela
      121 gsvqdllarv kkleeemvem keqcsaqrcc qgvtdlsrhc sghgtfslet cschceegre
      181 gpacerlacp gacsghgrcv dgrclchepy vgadcgypac pencsghgec vrgvcqched
      241 fmsedcsekr cpgdcsghgf cdtgecycee gftgldcaqv vtpqglqllk ntedsllvsw
      301 epssqvdhyl lsyyplgkel sgkqiqvpke qhsyeilgll pgtkyivtlr nvknevsssp
      361 qhllattdla vlgtawvtde tensldvewe npstevdyyk lrygpmtgqe vaevtvpkss
      421 dpksryditg lhpgteykit vvpmrgeleg kpillngrte idsptnvvtd rvtedtatvs
      481 wdpvqavidk yvvrytsadg dtkemavhkd esstvltglk pgeaykvyvw aergnqgskk
      541 adtnalteid spanlvtdrv tentatiswd pvqatidkyv vrytsaddqe trevlvgkeq
      601 sstvltglrp gveytvhvwa qkgdreskka dtnaptdids pknlvtdrvt enmatvswdp
      661 vqaaidkyvv rytsaggetr evpvgkeqss tvltglrpgm eymvhvwaqk gdqeskkadt
      721 kaqtdidspq nlvtdrvten matvswdpvr atidryvvry tsakdgetre vpvgkeqsst
      781 vltglrpgve ytvhvwaqkg aqeskkadtk aqtdidspqn lvtdwvtent atvswdpvqa
      841 tidryvvhyt sangetrevp vgkeqsstvl tglrpgmeyt vhvwaqkgnq eskkadtkaq
      901 teidgpknlv tdwvtenmat vswdpvqati dkymvrytsa dgetrevpvg kehsstvltg
      961 lrpgmeymvh vwaqkgaqes kkadtkaqte ldpprnlrps avtqsggilt wtppsaqihg
     1021 yiltyqfpdg tvkemqlgre dqrfalqgle qgatypvslv afkggrrsrn vsttlstvga
     1081 rfphpsdcsq vqqnsnaasg lytiylhgda srplqvycdm etdgggwivf qrrntgqldf
     1141 fkrwrsyveg fgdpmkefwl gldklhnltt gtparyevrv dlqtanesay aiydffqvas
     1201 skerykltvg kyrgtagdal tyhngwkftt fdrdndials ncalthhggw wyknchlanp
     1261 ngrygetkhs egvnwepwkg hefsipyvel kirphgysre pvlgrkkrtl rgrlrtf
//
LOCUS       XP_054220659            1073 aa            linear   PRI 20-MAR-2023
DEFINITION  cilia- and flagella-associated protein 70 isoform X9 [Homo
            sapiens].
ACCESSION   XP_054220659
VERSION     XP_054220659.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364684.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1073
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1073
                     /product="cilia- and flagella-associated protein 70
                     isoform X9"
                     /calculated_mol_wt=120644
     CDS             1..1073
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /coded_by="XM_054364684.1:5666..8887"
                     /db_xref="GeneID:118491"
                     /db_xref="HGNC:HGNC:30726"
                     /db_xref="MIM:618661"
ORIGIN      
        1 mhlnptlgkr pkkteglfpv gdmeqvpsag rlvqitvteg ydlkgfkgdt pvtfiraefn
       61 qvvlgdsaki tvspegsaky nftssfefnp eggitsddla hkpvfltvte vlpkekkqke
      121 ektlilgqav vdllpllegp gqnymvglqv pslgekdypi lfkngtlklg gerepvprpk
      181 kwpianilap gannipdafi vggpyeeeeg elnhpedsef rnqaecikkr iiwdlesrcy
      241 ldpsavvsfq kriadcrlwp veitrvplvt ipkgkagkte ktdeeaqlsf hgvayvnmvp
      301 llypgvkrir gafhvypyld svvhektkcl lslfrdighh lihnnkiggi nsllskqavs
      361 knlkedkpvk ekdidgrprp gdvqapsiks qssdtplege pplshnpegq qyveagtyiv
      421 leiqldkalv pkrmpeelar rvkemipprp pltrrtggaq kavsdyhiqi knisrailde
      481 yyrmfgkqva klesdmdset leeqkcqlsy elncsgkyfa fkeqlkhavv kivrdkylkt
      541 tsfesqeelq tfiselyvfl vdqmhvalnq tmpddvqgtv atiytsseql qlfafeaevn
      601 enfemaaayy kerlvrepqn ldhwldygaf clltednika qecfqkalsl nqshihslll
      661 cgvlavllen yeqaeiffed atcleptnvv awtllglyye iqnndirmem afheaskqlq
      721 armlqaqvtk qkstgvedte ergkresslg pwgitngsat aikveapagp gaalsildkf
      781 leessklqsd sqepilttqt wdpsisqkps ntfikeiptk keaskcqdss allhpglhyg
      841 vsqtttifme tihflmkvka vqyvhrvlah ellcpqggps ceyylvlaqt hilkknfaka
      901 eeylqqaaqm dylnpnvwgl kghlyflsgn hseakacyer tisfvvdase mhfiflrlgl
      961 iyleekeyek akktymqack rspscltwlg lgiacyrlee lteaedalse analnnynae
     1021 vwaylalvcl kvgrqleaeq aykymiklkl kdeallaeih tlqetvgfgn psf
//
LOCUS       XP_054222414             642 aa            linear   PRI 20-MAR-2023
DEFINITION  scm-like with four MBT domains protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054222414
VERSION     XP_054222414.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366439.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..642
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..642
                     /product="scm-like with four MBT domains protein 2 isoform
                     X3"
                     /calculated_mol_wt=72045
     CDS             1..642
                     /gene="SFMBT2"
                     /coded_by="XM_054366439.1:342..2270"
                     /db_xref="GeneID:57713"
                     /db_xref="HGNC:HGNC:20256"
                     /db_xref="MIM:615392"
ORIGIN      
        1 mdppseiypl kmasewkctl ekslidaakf plpmevfkdh adlrshfftv gmkletvnmc
       61 epfyispasv tkvfnnhffq vtiddlrpep sklsmlchad slgilpvqwc lkngvsltpp
      121 kgysgqdfdw adyhkqhgaq eappfcfrnt sfsrgftknm kleavnprnp gelcvasvvs
      181 vkgrlmwlhl eglqtpvpev ivdvesmdif pvgwceansy pltaphktvs qkkrkiavvq
      241 pekqlpptvp vkkiphdlcl fphldttgtv ngkyccpqlf inhrcfsgpy lnkgriaelp
      301 qsvgpgkcvl vlkevlsmii naaykpgrvl relqlvedph wnfqeetlka kyrgktyrav
      361 vkivrtsdqv anfcrrvcak leccpnlfsp vlisencpen csihtktkyt yyygkrkkis
      421 kppigesnpd sghpkparrr krrksifvqk krrssavdft agsgeeseee dadamdddta
      481 seetgselrd dqtdtssaev psarprravt lrsgsepvrr pppertrrgr gapaassaee
      541 gekcpptkpe gtedtkqeee erlvlesnpl ewtvtdvvrf ikltdcapla kifqeqdidg
      601 qalllltlpt vqecmelklg paiklchqie rvkvafyaqy an
//
LOCUS       XP_054223504             314 aa            linear   PRI 20-MAR-2023
DEFINITION  NADP-dependent malic enzyme, mitochondrial isoform X6 [Homo
            sapiens].
ACCESSION   XP_054223504
VERSION     XP_054223504.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367529.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..314
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..314
                     /product="NADP-dependent malic enzyme, mitochondrial
                     isoform X6"
                     /calculated_mol_wt=35022
     CDS             1..314
                     /gene="ME3"
                     /gene_synonym="NADP-ME"
                     /coded_by="XM_054367529.1:232..1176"
                     /db_xref="GeneID:10873"
                     /db_xref="HGNC:HGNC:6985"
                     /db_xref="MIM:604626"
ORIGIN      
        1 mgaalgtgtr lapwpgracg alprwtptap aqgchskpgp arpvplkkrg ydvtrnphln
       61 kgmaftleer lqlgihglip pcflsqdvql lrimryyerq qsdldkyiil mtlqdrnekl
      121 fyrvltsdve kfmpivytpt vglacqhygl tfrrprglfi tihdkghlat mlnswpedni
      181 kavvvtdger ilglgdlgcy gmgipvgkla lytacggvnp qqclpvlldv gtnneellrd
      241 plyiglkhqr vhgkayddll defmqavtdk fgincliqfe dfananafrl lnkyrnkycm
      301 fnddiqapst apat
//
LOCUS       XP_054223987             280 aa            linear   PRI 20-MAR-2023
DEFINITION  lysosomal membrane ascorbate-dependent ferrireductase CYB561A3
            isoform X1 [Homo sapiens].
ACCESSION   XP_054223987
VERSION     XP_054223987.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368012.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..280
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..280
                     /product="lysosomal membrane ascorbate-dependent
                     ferrireductase CYB561A3 isoform X1"
                     /calculated_mol_wt=31522
     CDS             1..280
                     /gene="CYB561A3"
                     /gene_synonym="CYBASC3; LCYTB"
                     /coded_by="XM_054368012.1:781..1623"
                     /db_xref="GeneID:220002"
                     /db_xref="HGNC:HGNC:23014"
                     /db_xref="MIM:618757"
ORIGIN      
        1 mgknfsdsfl srecvirmvs grfylsclll gslgsmcilf tiywmqywrg gfawngsiym
       61 fnwhpvlmva gmvvfyggas lvyrlpqswv gpklpwkllh aalhlmafvl tvvglvavft
      121 fhnhgrtanl yslhswlgit tvflfacqwf lgfavfllpw asmwlrsllk pihvffgaai
      181 lslsiasvis gineklffsl knttrpyhsl pseavfanst gmlvvafgll vlyillassw
      241 krpepgiltd rqlllqlrpg srpfpvtyvs vtgrqpyksw
//
LOCUS       XP_054225639            1042 aa            linear   PRI 20-MAR-2023
DEFINITION  signal-induced proliferation-associated protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054225639
VERSION     XP_054225639.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369664.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1042
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1042
                     /product="signal-induced proliferation-associated protein
                     1 isoform X1"
                     /calculated_mol_wt=112018
     CDS             1..1042
                     /gene="SIPA1"
                     /gene_synonym="SPA1"
                     /coded_by="XM_054369664.1:744..3872"
                     /db_xref="GeneID:6494"
                     /db_xref="HGNC:HGNC:10885"
                     /db_xref="MIM:602180"
ORIGIN      
        1 mpmwaggvgs prrgmapast ddlfarklrq parppltpht feprpvrgpl lrsgsdagea
       61 rpptpaspra rahsheeasr paatstrlft dplallglpa eepepafppv leprwfahyd
      121 vqsllfdwap rsqgmgshse assgtlasae dqaassdllh gapgfvcelg gegelglggp
      181 asppvppalp naavsileep qnrtsaysle hadlgagyyr kyfygkehqn ffgmdeslgp
      241 vavslrreek egsgggtlhs yrvivrttql rtlrgtised alppgpprgl sprkllehva
      301 pqlspsclrl gsaspkvprt lltldeqvls fqrkvgilyc ragqgseeem ynnqeagpaf
      361 mqfltllgdv vrlkgfesyr aqldtktdst gthslyttyq dheimfhvst mlpytpnnqq
      421 qllrkrhign divtivfqep gskpfcptti rshfqhvflv vrahtpctph ttyrvavsrt
      481 qdtpafgpal pagggpfaan adfrafllak alngeqaagh arqfhamatr trqqylqdla
      541 tnevtttsld sasrfglpsl ggrrraaprg pgaelqaags lvwgvraapg arvaagaqas
      601 gpegievpcl lgisaealvl vaprdgrvvf ncacrdvlaw tfseqqldly hgrgeaitlr
      661 fdgspgqavg evvarlqlvs rgcetrelal prdgqgrlgf evdaegfvth verftfaeta
      721 glrpgarllr vcgqtlpslr peaaaqllrs apkvcvtvlp pdesgrprrs fselytlslq
      781 epsrrgapdp vqdevqgvtl lpttkqllhl clqdggsppg pgdlaeerte flhsqnslsp
      841 rsslsdeapv lpnttpdlll attakpsvps adsetpltqd rpgspsgsed kgnpapelra
      901 sflprtlslr nsisrimsea gsgtledewq aiseiastcn tileslsreg qpipesgdpk
      961 gtpksdaepe pgnlsekvsh lesmlrklqe dlqkekadra aleeevrslr hnnrrlqaes
     1021 esaatrllla skqlgsptad la
//
LOCUS       XP_054228464             635 aa            linear   PRI 20-MAR-2023
DEFINITION  vezatin isoform X11 [Homo sapiens].
ACCESSION   XP_054228464
VERSION     XP_054228464.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372489.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 22% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..635
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..635
                     /product="vezatin isoform X11"
                     /calculated_mol_wt=72296
     CDS             1..635
                     /gene="VEZT"
                     /gene_synonym="VEZATIN"
                     /coded_by="XM_054372489.1:682..2589"
                     /db_xref="GeneID:55591"
                     /db_xref="HGNC:HGNC:18258"
                     /db_xref="MIM:619749"
ORIGIN      
        1 mlfafisllv mlptwwivss wlvwgvilfv ylviralrlw rtaklqvtlk kysvhledma
       61 tnsraftnlv rkalrliqet evisrgftll ldrvsaacpf nkagqhpsqh liglrkavyr
      121 tlranfqaar latlymlkny plnsesdnvt nyicvvpfke lglglseeqi seeeahnftd
      181 gfslpalkvl fqlwvaqsse ffrrlallls tansppgpll tpallphril sdvtqglpha
      241 hsacleelkr syefyryfet qhqsvpqcls ktqqksreln nvhtavrslq lhlkallnev
      301 iiledelekl vctketqelv seaypileqk lkliqphvqa snncweeais qvdkllrrnt
      361 dkkgkpeiac enphctvvpl kqptlhiadk dpipeeqele ayvddidids dfrkddfyyl
      421 sqedkerqkr eheeskrvlq elksvlgfka seaerqkwkq llfsdhavlk slspvdpvep
      481 isnsepsmns dmgkvskndt eeesnksatt dneisrteyl censlegknk dnssnevfpq
      541 gaeermcyqc esedepqadg sglttapptp rdslqpsikq rlarlqlspd ftftaglaae
      601 vaarslsftt mqeqtfgdee eeqiieenkn eieek
//
LOCUS       XP_054229430             413 aa            linear   PRI 20-MAR-2023
DEFINITION  probable methyltransferase-like protein 25 isoform X7 [Homo
            sapiens].
ACCESSION   XP_054229430
VERSION     XP_054229430.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373455.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..413
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..413
                     /product="probable methyltransferase-like protein 25
                     isoform X7"
                     /calculated_mol_wt=46146
     CDS             1..413
                     /gene="METTL25"
                     /gene_synonym="C12orf26"
                     /coded_by="XM_054373455.1:38..1279"
                     /db_xref="GeneID:84190"
                     /db_xref="HGNC:HGNC:26228"
ORIGIN      
        1 maascplpvt pdlptlrakl qgllqflrda lsisnahtvd fytesvweel vdlppetvla
       61 alrksasete alpsetrplv eaeweagenq kavefmnmkk shevqamsel issiadyygi
      121 kqvidlgsgk gylssflslk yglkvygids sntnthgaee rnrklkkhwk lchaqsrldv
      181 nglalkmake rkvknkvknk adteevfnns ptnqekmpts ailpdfsgsv isnirnqmet
      241 lhsqphqken lcfensfsli nllpinavep tssqqipnre tseankerrk mtskssesni
      301 yspltsfita dselhdiikd ledclmvglh tcgdlapntl riftsnseik gvcsvgccyh
      361 llseefenqh kertqekwgf pmchylkeer wccgrnarms aclalervaa gqg
//
LOCUS       XP_054229883             758 aa            linear   PRI 20-MAR-2023
DEFINITION  ARF GTPase-activating protein GIT2 isoform X1 [Homo sapiens].
ACCESSION   XP_054229883
VERSION     XP_054229883.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373908.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..758
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..758
                     /product="ARF GTPase-activating protein GIT2 isoform X1"
                     /calculated_mol_wt=84325
     CDS             1..758
                     /gene="GIT2"
                     /gene_synonym="CAT-2; CAT2; PKL"
                     /coded_by="XM_054373908.1:145..2421"
                     /db_xref="GeneID:9815"
                     /db_xref="HGNC:HGNC:4273"
                     /db_xref="MIM:608564"
ORIGIN      
        1 mskrlrssev cadcsgpdps wasvnrgtfl cdeccsvhrs lgrhisqvrh lkhtpwpptl
       61 lqmvetlynn gansiwehsl ldpasimsgr rkanpqdkvh pnkaefirak yqmlafvhrl
      121 pcrdddsvta kdlskqlhss vrtgnletcl rllslgaqan ffhpekgntp lhvaskagqi
      181 lqaellavyg adpgtqdssg ktpvdyarqg ghhelaerlv eiqyeltdrl afylcgrkpd
      241 hkngqhfiip qmadsldlse lakaakkklq slsnhlfeel amdvydevdr retdavwlat
      301 qnhsalvtet tvvpflpvnp eysstrnqgr qklarfnahe fatlvidils dakrrqqgss
      361 lsgskdnvel ilktinnqhs vesqdndqpd ydsvasdedt dlettasktn rqksldsdls
      421 dgpvtvqefm evknalvase akiqqlmkvn nnlsdelrim qkklqtlqse nsnlrkqatt
      481 nvyqvqtgse ytdtsnhssl krrpsargsr pmsmyetgsg qkpylpmgea srpeesrmrl
      541 qpfpahigrs alvtsssslp sfpstlswsr desarrasrl ekqnstpesd ydntpndmep
      601 dgmgssrkgr qrsmvwpgdg lvpdtaephv apsptlpste dvirkteqit kniqellraa
      661 qenkhdsyip cserihvavt emaalfpkkp ksdmvrtslr lltssayrlq seckktlpgd
      721 pgsptdvqlv tqqviqcayd iakaakqlvt ittkennn
//
LOCUS       XP_054235453            1086 aa            linear   PRI 20-MAR-2023
DEFINITION  adenylate cyclase type 7 isoform X1 [Homo sapiens].
ACCESSION   XP_054235453
VERSION     XP_054235453.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379478.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1086
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1086
                     /product="adenylate cyclase type 7 isoform X1"
                     /calculated_mol_wt=120850
     CDS             1..1086
                     /gene="ADCY7"
                     /gene_synonym="AC7"
                     /coded_by="XM_054379478.1:399..3659"
                     /db_xref="GeneID:113"
                     /db_xref="HGNC:HGNC:238"
                     /db_xref="MIM:600385"
ORIGIN      
        1 mpakgryfln egeegpdqda lyekyqltsq hgpllltlll vaatacvali iiafsqgdps
       61 rhqailgmaf lvlavfaals vlmyvecllr rwlralallt waclvalgyv lvfdawtkaa
      121 caweqvpffl fivfvvytll pfsmrgavav gavstashll vlgslmggft tpsvrvglql
      181 lanaviflcg nltgafhkhq mqdasrdlft ytvkciqirr klriekrqqe nlllsvlpah
      241 ismgmklaii erlkehgdrr cmpdnnfhsl yvkrhqnvsi lyadivgftq lasdcspkel
      301 vvvlnelfgk fdqiakanec mrikilgdcy ycvsglpvsl ptharncvkm gldmcqaikq
      361 vreatgvdin mrvgihsgnv lcgviglrkw qydvwshdvs lanrmeaagv pgrvhiteat
      421 lkhldkayev edghgqqrdp ylkemnirty lvidprsqqp pppsqhlprp kgdaalkmra
      481 svrmtryles wgaarpfahl nhresvssge thvpngrrpk svpqrhrrtp drsmspkgrs
      541 eddsyddeml saieglsstr pccsksddfy tfgsiflekg fereyrlapi prarhdfaca
      601 slifvcillv hvllmprtaa lgvsfglvac vlglvlglcf atkfsrccpa rgtlctiser
      661 vetqpllrlt lavltigsll tvaiinlplm pfqvpelpvg netgllaass ktralceplp
      721 yytcscvlgf iacsvflrms lepkvvlltv alvaylvlfn lspcwqwdcc gqglgnltkp
      781 ngttsgtpsc swkdlktmtn fylvlfyitl ltlsrqidyy crldclwkkk fkkeheefet
      841 menvnrllle nvlpahvaah figdklnedw yhqsydcvcv mfasvpdfkv fytecdvnke
      901 gleclrllne iiadfdelll kpkfsgveki ktigstymaa aglsvasghe nqelerqhah
      961 igvmvefsia lmskldginr hsfnsfrlrv ginhgpviag vigarkpqyd iwgntvnvas
     1021 rmestgelgk iqvslpfqvt eetctilqgl gyscecrgli nvkgkgelrt yfvctdtakf
     1081 qglgln
//
LOCUS       XP_054171865             136 aa            linear   PRI 20-MAR-2023
DEFINITION  histone H3.3 isoform X1 [Homo sapiens].
ACCESSION   XP_054171865
VERSION     XP_054171865.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315890.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..136
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..136
                     /product="histone H3.3 isoform X1"
                     /calculated_mol_wt=15197
     CDS             1..136
                     /gene="H3-3B"
                     /gene_synonym="BRYLIB2; H3-3A; H3.3B; H3F3B"
                     /coded_by="XM_054315890.1:270..680"
                     /db_xref="GeneID:3021"
                     /db_xref="HGNC:HGNC:4765"
                     /db_xref="MIM:601058"
ORIGIN      
        1 martkqtark stggkaprkq latkaarksa pstggvkkph ryrpgtvalr eirryqkste
       61 llirklpfqr lvreiaqdfk tdlrfqsaai galqeaseay lvglfedtnl caihakrvti
      121 mpkdiqlarr irgera
//
LOCUS       XP_054175032             306 aa            linear   PRI 20-MAR-2023
DEFINITION  low-density lipoprotein receptor class A domain-containing protein
            4 isoform X1 [Homo sapiens].
ACCESSION   XP_054175032
VERSION     XP_054175032.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319057.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..306
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..306
                     /product="low-density lipoprotein receptor class A
                     domain-containing protein 4 isoform X1"
                     /calculated_mol_wt=33769
     CDS             1..306
                     /gene="LDLRAD4"
                     /gene_synonym="C18orf1"
                     /coded_by="XM_054319057.1:753..1673"
                     /db_xref="GeneID:753"
                     /db_xref="HGNC:HGNC:1224"
                     /db_xref="MIM:606571"
ORIGIN      
        1 mpeagfqatn afteckftct sgkclylgsl vcnqqndcgd nsdeencllv tehpppgifn
       61 selefaqiii ivvvvtvmvv vivcllnhyk vstrsfinrp nqsrrredgl pqegclwpsd
      121 saaprlgase imhaprsrdr ftapsfiqrd rfsrfqptyp yvqheidlpp tislsdgeep
      181 ppyqgpctlq lrdpeqqmel nresvrappn rtifdsdlid iamysggpcp pssnsgisas
      241 tcssngrmeg ppptysevmg hhpgasflhh qrsnahrgsr lqfqqnnaes tivpikgkdr
      301 kpgnlv
//
LOCUS       XP_054175941             551 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 599 isoform X1 [Homo sapiens].
ACCESSION   XP_054175941
VERSION     XP_054175941.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319966.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..551
                     /product="zinc finger protein 599 isoform X1"
                     /calculated_mol_wt=63271
     CDS             1..551
                     /gene="ZNF599"
                     /coded_by="XM_054319966.1:1004..2659"
                     /db_xref="GeneID:148103"
                     /db_xref="HGNC:HGNC:26408"
ORIGIN      
        1 mletcrllvs lghpvpkpel iyllehgqel wtvkrglsqs tcagekakpk iteptasqla
       61 fseessfqel laqrssrdsr lgqardeekl ikiqegnlrp gtnphkeicp eklsykhddl
      121 epddslglrv lqervtpqda lhecdsqgpg kdpmtdarnn pytctecgkg fskkwalvrh
      181 qqihagvkpy ecnecgkacr ymadvirhmr lhtgekpykc iecgkafkrr fhltehqrih
      241 tgdkpyecke cgkafthrss fiqhnmthtr ekpflckecg kafyysssfa qhmrihtgkk
      301 lyecgecgka fthrstfiqh nvthtgekpf lckecgktfc lnssftqhmr ihtgekpyec
      361 gecgkafthr stfirhkrth tgekpfecke cgkafcdsss liqhmrihtg ekpyecsecg
      421 kafthhsvfi rhnrthsgqk pleckecaka fyysssftrh mrihtgekpy vcrecgkaft
      481 qpanfvrhnr ihtgekpfec kecekafcdn faltqhmrth tgekpfecne cgktfshsss
      541 fthhrkihtr v
//
LOCUS       XP_054177478             301 aa            linear   PRI 20-MAR-2023
DEFINITION  protein GPR108 isoform X1 [Homo sapiens].
ACCESSION   XP_054177478
VERSION     XP_054177478.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321503.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..301
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..301
                     /product="protein GPR108 isoform X1"
                     /calculated_mol_wt=34138
     CDS             1..301
                     /gene="GPR108"
                     /gene_synonym="LUSTR2"
                     /coded_by="XM_054321503.1:668..1573"
                     /db_xref="GeneID:56927"
                     /db_xref="HGNC:HGNC:17829"
                     /db_xref="MIM:618491"
ORIGIN      
        1 mireknpdgf lsaaemplfk lymvmsacfl aagifwvsil crntysvfki hwlmaalaft
       61 ksisllfhsi nyyfinsqgh pieglavmyy iahllkgall fitialigsg wafikyvlsd
      121 kekkvfgivi pmqvlanvay iiiesreega sdyvlwkeil flvdliccga ilfpvvwsir
      181 hlqdasgtdg kvavnlaklk lfrhyyvmvi cyvyftriia illqvavpfq wqwlyqllve
      241 gstlaffvlt gykfqptgnn pylqlpqede edvqmeqvmt dsgfreglsk vnktasgrel
      301 l
//
LOCUS       XP_054177825             407 aa            linear   PRI 20-MAR-2023
DEFINITION  thromboxane A2 receptor isoform X2 [Homo sapiens].
ACCESSION   XP_054177825
VERSION     XP_054177825.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321850.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..407
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..407
                     /product="thromboxane A2 receptor isoform X2"
                     /calculated_mol_wt=44074
     CDS             1..407
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /coded_by="XM_054321850.1:548..1771"
                     /db_xref="GeneID:6915"
                     /db_xref="HGNC:HGNC:11608"
                     /db_xref="MIM:188070"
ORIGIN      
        1 mwpngsslgp cfrptnitle errliaspwf aasfcvvgla snllalsvla garqggshtr
       61 ssfltflcgl vltdflgllv tgtivvsqha alfewhavdp gcrlcrfmgv vmiffglspl
      121 llgaamaser ylgitrpfsr pavasqrraw atvglvwaaa lalgllpllg vgrytvqypg
      181 swcfltlgae sgdvafgllf smlgglsvgl sfllntvsva tlchvyhgqe aaqqrprdse
      241 vemmaqllgi mvvasvcwlp llvfiaqtvl rnppamspag qlsrttekel liylrvatwn
      301 qildpwvyil frravlrrlq prlstrprrs ltlwpsleys gtisahcnlr lpgssdsras
      361 asraagitgv shcarpcmlf dpefdllagv qllpfepptg kalsrkd
//
LOCUS       XP_054196376             842 aa            linear   PRI 20-MAR-2023
DEFINITION  oxysterol-binding protein-related protein 6 isoform X18 [Homo
            sapiens].
ACCESSION   XP_054196376
VERSION     XP_054196376.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340401.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..842
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..842
                     /product="oxysterol-binding protein-related protein 6
                     isoform X18"
                     /calculated_mol_wt=96138
     CDS             1..842
                     /gene="OSBPL6"
                     /gene_synonym="ORP6"
                     /coded_by="XM_054340401.1:193..2721"
                     /db_xref="GeneID:114880"
                     /db_xref="HGNC:HGNC:16388"
                     /db_xref="MIM:606734"
ORIGIN      
        1 mlkkrkwplk gwhkrffvld ngmlkyskap ldiqkgkvhg sidvglsvms ikkkarridl
       61 dteehiyhlk vksqdwfdaw vsklrhhrly rqneivrspr dasfhifpst staesspaan
      121 vsvmdgkmqp nsfpwqsplp csnslpatct tgqskvaawl qdseemdrca edlahcqsnl
      181 velskllqnl eilqrtqsap nftdmqancv diskkdkrvt rrwrtksvsk dtkiqlqvpf
      241 satmspvrlh ssnpnlcadi efqtppshlt dplesstdyt klqeefclia qkvhsllksa
      301 fnsiaiekek lkqmvseqdh skghstqmar lrqslsqaln qnaelrsrln rihsesiicd
      361 qvvsvniips pdeageqihv slplsqqvan esrlsmsesv seffdaqevl lsasssenea
      421 sddesyisdv sdnisednts vadnisrqil ngeltggafr ngrraclpap cpdtsninlw
      481 nilrnnigkd lskvsmpvel neplntlqhl ceemeysell dkasetddpy ermvlvaafa
      541 vsgycstyfr agskpfnpvl getyecired kgfrffseqv shhppisach cesknfvfwq
      601 dirwknkfwg ksmeilpvgt lnvmlpkygd yyvwnkvttc ihnilsgrrw iehygevtir
      661 ntkssvcick ltfvkvnywn snmnevqgvv idqegkavyr lfgkwhegly cgvapsakci
      721 wrpgsmptny elyygftrfa ielneldpvl kdllpptdar frpdqrflee gnleaaasek
      781 qrveelqrsr rrymeennle hipkffkkvi danqreawvs ndtywelrkd pgfskvdspv
      841 lw
//
LOCUS       XP_054199385             691 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase MARCHF7 isoform X2 [Homo sapiens].
ACCESSION   XP_054199385
VERSION     XP_054199385.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343410.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..691
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..691
                     /product="E3 ubiquitin-protein ligase MARCHF7 isoform X2"
                     /calculated_mol_wt=76434
     CDS             1..691
                     /gene="MARCHF7"
                     /gene_synonym="AXO; AXOT; MARCH-VII; MARCH7; RNF177"
                     /coded_by="XM_054343410.1:244..2319"
                     /db_xref="GeneID:64844"
                     /db_xref="HGNC:HGNC:17393"
                     /db_xref="MIM:613334"
ORIGIN      
        1 meskpsripr risvqpsssl sarmmsgsrg sslndtyhsr dssfrldsey qstsasasas
       61 pfqsawyses eitqgarsrs qnqqrdhdsk rpklsctncs tsagrnvgng lntlsdsswr
      121 hsqvprsssm vlgsfgtdlm rerrdlerrt dssisnlmdy shrsgdftts syvqdrvpsy
      181 sqgarpkens mstlqlntss tnhqlpsehq tilssrdsrn slrsnfssre sessrsntqp
      241 gfsysssrde apiisnserv vssqrpfqes sdnegrrttr rllsriassm sstffsrrss
      301 qdslntrsln sensyvspri ltasqsrsnv psasevpdnr aseasqgfrf lrrrwglssl
      361 shnhssesds enfnqesegr ntgpwlsssl rnrctplfsr rrregrdess riptsdtssr
      421 shifrresne vvhleaqndp lgaaanrpqa saasssattg gstsdsaqgg rntgisgilp
      481 gslfrfavpp algsnltdnv mitvdiipsg wnsadgksdk tksapsrdpe rlqkikesll
      541 ledseeeegd lcricqmaaa sssnlliepc kctgslqyvh qdcmkkwlqa kinsgsslea
      601 vttcelckek lelnledfdi helhrahane qaeyefissg lylvvllhlc eqsfsdmmgn
      661 tnepstrvrl qrmipkktet itghlilpnf i
//
LOCUS       XP_054179611            1821 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF16B isoform X3 [Homo sapiens].
ACCESSION   XP_054179611
VERSION     XP_054179611.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323636.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1821
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1821
                     /product="kinesin-like protein KIF16B isoform X3"
                     /calculated_mol_wt=207126
     CDS             1..1821
                     /gene="KIF16B"
                     /gene_synonym="C20orf23; KISC20ORF; SNX23"
                     /coded_by="XM_054323636.1:174..5639"
                     /db_xref="GeneID:55614"
                     /db_xref="HGNC:HGNC:15869"
                     /db_xref="MIM:618171"
ORIGIN      
        1 masvkvavrv rpmnrrekdl eakfiiqmek skttitnlki peggtgdsgr ertktftydf
       61 sfysadtksp dyvsqemvfk tlgtdvvksa fegynacvfa ygqtgsgksy tmmgnsgdsg
      121 lipriceglf srinettrwd easfrtevsy leiynervrd llrrkssktf nlrvrehpke
      181 gpyvedlskh lvqnygdvee lmdagninrt taatgmndvs srshaiftik ftqakfdsem
      241 pcetvskihl vdlagserad atgatgvrlk eggninkslv tlgnvisala dlsqdaantl
      301 akkkqvfvpy rdsvltwllk dslggnskti miatispadv nygetlstlr yanrakniin
      361 kptinedanv klirelraei arlktllaqg nqialldspt alsmeeklqq nearvqeltk
      421 ewtnkwnetq nilkeqtlal rkegigvvld selphligid ddllstgiil yhlkegqtyv
      481 grddasteqd ivlhgldles ehcifenigg tvtliplsgs qcsvngvqiv eathlnqgav
      541 illgrtnmfr fnhpkeaakl rekrksglls sfslsmtdls ksrenlsavm lynpglefer
      601 qqreelekle skrklieeme ekqksdkael ermqqevetq rketeivqlq irkqeeslkr
      661 rsfhienklk dllaekekfe eerlreqqei elqkkrqeee tflrvqeelq rlkelnnnek
      721 aekfqifqel dqlqkekdeq yaklelekkr leeqekeqvm lvahleeqlr ekqemiqllr
      781 rgevqwveee krdlegires llrvkearag gdedgeelek aqlrffefkr rqlvklvnle
      841 kdlvqqkdil kkevqeeqei leclkcehdk esrllekhde svtdvtevpq dfekikpvey
      901 rlqykerqlq yllqnhlptl leekqrafei ldrgplsldn tlyqvekeme ekeeqlaqyq
      961 ananqlqklq atfeftania rqeekvrkke keilesrekq qrealerala rlerrhsalq
     1021 rhstlgteie eqrqklasln sgsreqsglq asleaeqeal ekdqerinay ieeevqrrlq
     1081 dlhrvisegc stsadtmkdn eklhngtiqr klkyekrqfc pawyldpllp rdatdtssli
     1141 keerrevdqn dhwdhpmlws vsgpkttssa sqerthqqrd qssvpevfqd senkychpeh
     1201 aghfepkcfn lpkisflnes ntddaedfqs qsenfselmt hkdkhglrvk sswtllqhts
     1261 qevsinsggk qarqgkvlcl vlsegishee rascsapqsv lasefyseqq geeeldakkm
     1321 ssseslvnir tegnnglgyf yhkfsdlykd tsshllqagt kvisqarlvg nlcaprglps
     1381 qvttfvrslp flkhlaphmp lktdmqstes hspearvgss eseaagslrp aegaapyras
     1441 vfaatglpgs spssvfrley edarkssafk qslvqfpdqm lklqecplkd llrhvtcslp
     1501 eplgnmkevk giywlavaac tapdpqpacl lllqstlyal vlsdnlgsms ifhalplsgl
     1561 qeiqigfggq svrflssaeg llltvfsynk ylsqqlcrdl lcvlmpepda aacanhpllq
     1621 qdlvqlsldw kteipdlvlp ngvqvsskfq ttlvdmiyfl hgnmevnvps laevqlllyt
     1681 tvkvmgdsgh dqcqslvlln thialvkedc vfyprirsrn ipppgaqfdv ikchalsefr
     1741 cvvvpekknv stvelvflqk lkpsvgsrns ppehlqeapn vqlfttplyl qgsqnvapev
     1801 wkltfnsqde alwlishltr l
//
LOCUS       XP_054202360             319 aa            linear   PRI 20-MAR-2023
DEFINITION  G-protein coupled receptor 171 isoform X1 [Homo sapiens].
ACCESSION   XP_054202360
VERSION     XP_054202360.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346385.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..319
                     /product="G-protein coupled receptor 171 isoform X1"
                     /calculated_mol_wt=36623
     CDS             1..319
                     /gene="GPR171"
                     /gene_synonym="H963"
                     /coded_by="XM_054346385.1:167..1126"
                     /db_xref="GeneID:29909"
                     /db_xref="HGNC:HGNC:30057"
                     /db_xref="MIM:618925"
ORIGIN      
        1 mtnssffcpv ykdlepftyf fylvflvgii gscfatwafi qkntnhrcvs iylinlltad
       61 flltlalpvk ivvdlgvapw klkifhcqvt acliyinmyl siiflafvsi drclqlthsc
      121 kiyriqepgf akmistvvwl mvllimvpnm mipikdikek snvgcmefkk efgrnwhllt
      181 nficvaifln fsaiilisnc lvirqlyrnk dnenypnvkk alinillvtt gyiicfvpyh
      241 ivripytlsq tevitdcstr islfkakeat lllavsnlcf dpilyyhlsk afrskvtetf
      301 aspketkaqk eklrcenna
//
LOCUS       XP_054210728             342 aa            linear   PRI 20-MAR-2023
DEFINITION  regulating synaptic membrane exocytosis protein 1 isoform X30 [Homo
            sapiens].
ACCESSION   XP_054210728
VERSION     XP_054210728.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354753.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..342
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..342
                     /product="regulating synaptic membrane exocytosis protein
                     1 isoform X30"
                     /calculated_mol_wt=36717
     CDS             1..342
                     /gene="RIMS1"
                     /gene_synonym="CORD7; RAB3IP2; RIM; RIM1"
                     /coded_by="XM_054354753.1:3231..4259"
                     /db_xref="GeneID:22999"
                     /db_xref="HGNC:HGNC:17282"
                     /db_xref="MIM:606629"
ORIGIN      
        1 msvmfppfpe pavphasaaq alcqsnlsap gvesgrrmgt sgrsimksts vsgemytleh
       61 ndgsqsdtav gtvgaggkkr rsslsakvva ivsrrsrsts qlsqtesghk klkstiqrst
      121 etgmaaemrk mvrqpsrest dgsinsysse gnlifpgvrl gadsqfsdfl dglgpaqlvg
      181 rqtlatpamg diqigmedkk gqlevevira rsltqkpgsk stpapyvkvy llengaciak
      241 kktriarktl dplyqqslvf despqgkvlq vivwgdygrm dhkcfmgvaq illeeldlss
      301 mvigwyklfp psslvdptlt pltrrasqss lesstgppci rs
//
LOCUS       XP_054212134            2328 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA polymerase zeta catalytic subunit isoform X10 [Homo sapiens].
ACCESSION   XP_054212134
VERSION     XP_054212134.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356159.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2328
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2328
                     /product="DNA polymerase zeta catalytic subunit isoform
                     X10"
                     /calculated_mol_wt=260579
     CDS             1..2328
                     /gene="REV3L"
                     /gene_synonym="POLZ; REV3"
                     /coded_by="XM_054356159.1:342..7328"
                     /db_xref="GeneID:5980"
                     /db_xref="HGNC:HGNC:9968"
                     /db_xref="MIM:602776"
ORIGIN      
        1 mfsvrivtad yymasplqgl dtcqspltqa pvkkvpvvrv fgatpagqkt clhlhgifpy
       61 lyvpydgygq qpesylsqma fsidralnva lgnpsstaqh vfkvslvsgm pfygyheker
      121 hfmkiylynp tmvkricell qsgaimnkfy qpheahipyl lqlfidynly gmnlinlaav
      181 kfrkarrksn tlhatgsckn hlsgnsladt lfrweqdeip sslilegvep qstcelevda
      241 vaadilnrld ieaqiggnpg lqaiwedekq rrrnrnetsq msqpesqdhr fvpatesekk
      301 fqkrlqeilk qndfsvrtls gsvdysdgsq efsaeltlhs evlspemlqc tpanmvevhk
      361 dkesskghtr hkveealine eailnlmens qtfqpltqrl sespvfmdss pdealvhlla
      421 glesdgyrge rnrmpspcrs fgnnkypqns ddeenepqie keemelslvm sqrwdsniee
      481 hcakkrslcr nthrsstedd dsssgeemew sdnslllasl sipqldgtad ensdnplnne
      541 nsrthssvia tsklsvkpsi fhkdaatlep sssakitfqc khtsalsshv lnkedliedl
      601 sqtnkntekg ldnsvtsftn estysmkypg slsstvhsen shkenskkei lpvsscessi
      661 fdyeedipsv trqvpsrkyt nirkiekdsp fihmhrhpne ntlgknsfnf sdlnhsknkv
      721 ssegnekgns talsslfpss ftencellsc sgenrtmvhs lnstadesgl nklkiryeef
      781 qehktekpsl sqqaahymff psvvlsnclt rpqklspvty klqpgnkpsr lklnkrklag
      841 hqetstksse tgstkdnfiq nnpcnsnpek dnalasdltk ttrgafenkt ptdgfidchf
      901 gdgtleteqs fglygnkytl rakrkvnyet edsessfvth nskislphpm eigesldgtl
      961 ksrkrrkmsk klppviikyi iinrfrgrkn mlvklgkids kekqviltee kmelykklap
     1021 lkdfwpkvpd spatkypiyp ltpkkshrrk skhksakkkt gkqqrtnnen ikrtlsfrkk
     1081 rshailspps psynaetedc dlnysdvmsk lgflsersts pinsspprcw sptdpraeei
     1141 maaaekeaml fkgpnvykkt vnsrigktsr araqikkska klanpsivtk krnkrnqtnk
     1201 lvddgkkkpr akqktnekgt srkhitlkde kiksqsgaev kfvlkhqnvs efasssggsq
     1261 llfkqkdmpl mgsavdhpls aslptginaq qklsgcfssf leskksvdlq tfpssrddlh
     1321 psvvcnsigp gvskinvqrp hnqsamftlk estliqknif dlsnhlsqva qntqissgms
     1381 skiednanni qrnylssigk lseyrnsles kldqaytpnf lhckdsqqqi vciaeqskhs
     1441 etcspgntas eesqmpnncf vtslrspikq iaweqkqrgf ildmsnfkpe rvkprslsea
     1501 isqtkalsqc knrnvstpsa fgegqsglav lkellqkrqq kaqnanttqd plsnkhqpnk
     1561 nisgslehnk ankrtrsvts prkprtprst kqkekipkll kvdslnlqns sqldnsvsdd
     1621 spiffsdpgf escysledsl spehnynfdi ntigqtgfcs fysgsqfvpa dqnlpqkfls
     1681 davqdlfpgq aiekneflsh dnqkcdedkh httdsaswir sgtlspeife kstidsnenr
     1741 rhnqwknsfh plttrsnsim dsfcvqqaed clseksrlnr ssvskevfls lpqpnnsdwi
     1801 qghtrkemgq sldsantsft ailsspdgel vdvacedlel yvsrnndmlt ptpdssprst
     1861 sspsqskngs ftprtanilk plmsppsree imatlldhdl setiyqepfc snpsdvpekp
     1921 reiggrllmv etrlandlae fegdfslegl rlwktafsam tqnprpgspl rsgqgvvnkg
     1981 ssnspkmved kkivimpckc apsrqlvqvw lqakeeyers kklpktkptg vvksaenfss
     2041 svnpddkpvv ppkmdvspci lpttahtked vdnsqialqa pttgcsqtas esqmlppvas
     2101 asdpekdedd ddnyyisyss pdspvippwq qpispdskal ngddrpsspv eelpslafen
     2161 flkpikdgiq kspcsepqep lvispintra rtgkceslcf hstpiiqrkl lerlpeapgl
     2221 splstepktq klsnkkgsnt dtlrrvlltq aknqfaavnt pqketsqidg pslnntygfk
     2281 vsiqnlqeak alheisdirl hylldlelqd skspmllmrr hffmklqi
//
LOCUS       XP_054212817             364 aa            linear   PRI 20-MAR-2023
DEFINITION  A-kinase anchoring protein 7 isoform X4 [Homo sapiens].
ACCESSION   XP_054212817
VERSION     XP_054212817.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356842.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..364
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..364
                     /product="A-kinase anchoring protein 7 isoform X4"
                     /calculated_mol_wt=40114
     CDS             1..364
                     /gene="AKAP7"
                     /gene_synonym="AKAP15; AKAP18"
                     /coded_by="XM_054356842.1:28..1122"
                     /db_xref="GeneID:9465"
                     /db_xref="HGNC:HGNC:377"
                     /db_xref="MIM:604693"
ORIGIN      
        1 mrvlrllrlp ppllplprgl rlgklrasag lasaarapaa crwtprrpsa ppsgpeprpg
       61 lrlglasspg trpataaaas pdappacaat merpeaggin snecenvsrk kkmseefean
      121 tmdslvdmpf atvdiqddcg itdepqinlk rsqenewvks dqvkkrkkkr kdyqpnyfls
      181 ipitnkeiik gikilqnaii qqderlakam vsdgsfhitl lvmqllnede vnigidalle
      241 lkpfieellq gkhltlpfqg igtfgnqvgf vklaegdhvn slleiaetan rtfqekgilv
      301 gesrsfkphl tfmklskspw lrknprgflm qiqtsdglls ytrvlemgmq inirsllsmt
      361 lccs
//
LOCUS       XP_054213193             571 aa            linear   PRI 20-MAR-2023
DEFINITION  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3
            isoform X12 [Homo sapiens].
ACCESSION   XP_054213193
VERSION     XP_054213193.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357218.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 27% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..571
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..571
                     /product="arf-GAP with GTPase, ANK repeat and PH
                     domain-containing protein 3 isoform X12"
                     /calculated_mol_wt=61457
     CDS             1..571
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /coded_by="XM_054357218.1:134..1849"
                     /db_xref="GeneID:116988"
                     /db_xref="HGNC:HGNC:16923"
                     /db_xref="MIM:616813"
ORIGIN      
        1 mergwpqgds cpgerpaacr rahsvcdsld lhgasagraa aalqaalcaa seqparprsv
       61 csggpepppt garglllgll rprlgrrgla psgppvspap spasspaptr rsrtrgeptp
      121 rprpasmtfl evnrlelaaa eapgaglgra gsagflrgaa lwssqrwpvl rggrgpegpr
      181 rglaalrksf sfrlrrgqev rrsesgllar pprartrsdg dagslgafps rrdllgsdap
      241 raapepgrpr taaglwrllt srfrrrepap aaplwgrraa aapellraps dsfvnsqewt
      301 lsrsvpelkv givgnlssgk salvhryltg tyvqeespeg grfkkeivvd gqsylllird
      361 eggppelqfa awvdavvfvf sledeisfqt vynyflrlcs frnasevpmv lvgtqdaisa
      421 anprviddsr arklstdlkr ctyyetcaty glnvervfqd vgiidsavpc sgpegsglak
      481 eaatghralq vtaqlaqplg rvrrlhpgra hqpghewrrq rlqrllvlsp lhpqhqpaga
      541 ahrdhrcllh phthpkavqa alqhlhvseg c
//
LOCUS       XP_054213270             588 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and SOCS box protein 15 isoform X2 [Homo sapiens].
ACCESSION   XP_054213270
VERSION     XP_054213270.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357295.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..588
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..588
                     /product="ankyrin repeat and SOCS box protein 15 isoform
                     X2"
                     /calculated_mol_wt=65698
     CDS             1..588
                     /gene="ASB15"
                     /coded_by="XM_054357295.1:278..2044"
                     /db_xref="GeneID:142685"
                     /db_xref="HGNC:HGNC:19767"
                     /db_xref="MIM:619757"
ORIGIN      
        1 mdtnddpded hltsydiqls iqesieaskt alcperfvpl saqnrklvea ikqghilelq
       61 eyvkykyamd eadekgwfpl heavvqpiqq ileivldasy ktlwefktcd getpltlavk
      121 aglvenvrtl lekgvwpntk ndkgetplli avkkgsydmv stlikhntsl dqpcvkrwsa
      181 mheaakqgrk divalllkhg gnvhlrdgfg vtplgvaaey ghcdvlehli hkggdvlala
      241 ddgasvlfea agggnpdcis llleyggsgn vpnraghlpi hraayeghyl alkylipvts
      301 knairksglt pihsaadgqn aqclellien gfdvntllad hisqsydder ktalyfavsn
      361 ndvhctevll aagadpnldp lncllvavra nnyeivrlll shganvncyf mhvndtrfps
      421 viqyalndev mlrlllnngy qvemcfdcmh gdifgnsfvw seiqeevlpg wtscvikdnp
      481 fcefitvpwm khlvgrvtrv lidymdyvpl caklksalev qrewpeirqi lenpcslkhl
      541 crlkirrlmg lqklcqpasv eklplppaiq ryilfkeydl ygqelklt
//
LOCUS       XP_054215866             374 aa            linear   PRI 20-MAR-2023
DEFINITION  sorting nexin-31 isoform X8 [Homo sapiens].
ACCESSION   XP_054215866
VERSION     XP_054215866.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359891.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..374
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..374
                     /product="sorting nexin-31 isoform X8"
                     /calculated_mol_wt=42822
     CDS             1..374
                     /gene="SNX31"
                     /coded_by="XM_054359891.1:502..1626"
                     /db_xref="GeneID:169166"
                     /db_xref="HGNC:HGNC:28605"
                     /db_xref="MIM:619839"
ORIGIN      
        1 mttamaderr dqleqylqnv tmdpnvlrsd vfveflklaq lntfdiatkk ayldiflpne
       61 qsirieiits dtaervlevv shkiglcrel lgyfglflir fgkegklsvv kkladfelpy
      121 vslgsseven ckvglrkwym apsldsvlmd crvavdllym qaiqdiekgw akptqaqrqk
      181 leafqkedsq tkflelarev rhygylqldp ctcdypesgs gavlsvgnne isccitlpds
      241 qtqdivfqms rvkcwqvtfl gtlldtdgpq rtlnqnlelr fqysedscwq wfviytkqaf
      301 llssclkkmi sekmvklaae ntemqievpe qskskkyhiq qsqqkdyssf lsrkskikia
      361 kgdcvfgnik eedl
//
LOCUS       NP_525129                227 aa            linear   PRI 25-MAR-2023
DEFINITION  transcription elongation factor A protein-like 2 [Homo sapiens].
ACCESSION   NP_525129
VERSION     NP_525129.1
DBSOURCE    REFSEQ: accession NM_080390.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 227)
  AUTHORS   Winter EE and Ponting CP.
  TITLE     Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism
            sustained by gene conversion events
  JOURNAL   BMC Evol Biol 5, 54 (2005)
   PUBMED   16221301
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 227)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D,
            Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL,
            Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles
            ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman
            R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P,
            Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E,
            Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA,
            Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A,
            Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM,
            Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N,
            Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford
            EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J,
            Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E,
            Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke
            G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V,
            Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis
            C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H,
            Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ,
            Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL,
            Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert
            J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock
            R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD,
            Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M,
            Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob
            L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S,
            Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A,
            Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L,
            Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD,
            Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall
            J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G,
            Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N,
            Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R,
            Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM,
            Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S,
            Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C,
            Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC,
            Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor
            PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K,
            Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana
            D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A,
            Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G,
            Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL,
            Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D,
            Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ,
            Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M,
            Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T,
            Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   3  (residues 1 to 227)
  AUTHORS   Pillutla RC, Shimamoto A, Furuichi Y and Shatkin AJ.
  TITLE     Genomic structure and chromosomal localization of TCEAL1, a human
            gene encoding the nuclear phosphoprotein p21/SIIR
  JOURNAL   Genomics 56 (2), 217-220 (1999)
   PUBMED   10051408
  REMARK    GeneRIF: Characterizes TCEAL1, another member of the human TCEAL
            gene family.
REFERENCE   4  (residues 1 to 227)
  AUTHORS   Bussow K, Cahill D, Nietfeld W, Bancroft D, Scherzinger E, Lehrach
            H and Walter G.
  TITLE     A method for global protein expression and antibody screening on
            high-density filters of an arrayed cDNA library
  JOURNAL   Nucleic Acids Res 26 (21), 5007-5008 (1998)
   PUBMED   9776767
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL035214.2, CD580311.2,
            AF325115.1 and BM699243.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the transcription elongation
            factor A (SII)-like (TCEAL) gene family. Members of this family
            contain TFA domains and may function as nuclear phosphoproteins
            that modulate transcription in a promoter context-dependent manner.
            Multiple family members are located on the X chromosome. [provided
            by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.384939.1,
                                           SRR3476690.1050666.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372780.6/ ENSP00000361866.1
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..227
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     Protein         1..227
                     /product="transcription elongation factor A protein-like
                     2"
                     /note="TCEA-like protein 2; transcription elongation
                     factor S-II protein-like 2; transcription elongation
                     factor A (SII)-like 2"
                     /calculated_mol_wt=25719
     Region          <1..>159
                     /region_name="2A1904"
                     /note="K+-dependent Na+/Ca+ exchanger; TIGR00927"
                     /db_xref="CDD:273344"
     Region          1..145
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H3H9.1)"
     Region          88..205
                     /region_name="BEX"
                     /note="Brain expressed X-linked like family; pfam04538"
                     /db_xref="CDD:427996"
     Region          202..227
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H3H9.1)"
     CDS             1..227
                     /gene="TCEAL2"
                     /gene_synonym="my048; MY0876G05; WEX1"
                     /coded_by="NM_080390.4:229..912"
                     /db_xref="CCDS:CCDS14496.1"
                     /db_xref="GeneID:140597"
                     /db_xref="HGNC:HGNC:29818"
ORIGIN      
        1 meklfneneg mpsnqgkidn eeqpphegkp evaciledkk lenegntent gkrveeplkd
       61 kekpesagka kgegkserkg ksemqggskt egkperggra egegepdser epesegepes
      121 etraagkrpa eddiprkakr ktnkglaqyl kqykeaihdm nfsnedmire fdnmarvedk
      181 rrkskqklga flwmqrnlqd pfyprgpref rggcraprrd tedipyv
//
LOCUS       NP_001338095             648 aa            linear   PRI 26-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 15 isoform 8 [Homo sapiens].
ACCESSION   NP_001338095
VERSION     NP_001338095.1
DBSOURCE    REFSEQ: accession NM_001351166.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 648)
  AUTHORS   Chen W, Ni D, Zhang H, Li X, Jiang Y, Wu J, Gu Y, Gao M, Shi W,
            Song J and Shi W.
  TITLE     Over-expression of USP15/MMP3 predict poor prognosis and promote
            growth, migration in non-small cell lung cancer cells
  JOURNAL   Cancer Genet 272-273, 9-15 (2023)
   PUBMED   36640492
  REMARK    GeneRIF: Over-expression of USP15/MMP3 predict poor prognosis and
            promote growth, migration in non-small cell lung cancer cells.
REFERENCE   2  (residues 1 to 648)
  AUTHORS   Kim MJ, Min Y, Jeong SK, Son J, Kim JY, Lee JS, Kim DH, Lee JS,
            Chun E and Lee KY.
  TITLE     USP15 negatively regulates lung cancer progression through the
            TRAF6-BECN1 signaling axis for autophagy induction
  JOURNAL   Cell Death Dis 13 (4), 348 (2022)
   PUBMED   35422093
  REMARK    GeneRIF: USP15 negatively regulates lung cancer progression through
            the TRAF6-BECN1 signaling axis for autophagy induction.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 648)
  AUTHORS   Niederkorn M, Ishikawa C, M Hueneman K, Bartram J, Stepanchick E, R
            Bennett J, E Culver-Cochran A, Bolanos LC, Uible E, Choi K,
            Wunderlich M, Perentesis JP, M Chlon T, Filippi MD and
            Starczynowski DT.
  TITLE     The deubiquitinase USP15 modulates cellular redox and is a
            therapeutic target in acute myeloid leukemia
  JOURNAL   Leukemia 36 (2), 438-451 (2022)
   PUBMED   34465865
  REMARK    GeneRIF: The deubiquitinase USP15 modulates cellular redox and is a
            therapeutic target in acute myeloid leukemia.
REFERENCE   4  (residues 1 to 648)
  AUTHORS   Tu L, Lin Z, Huang Q and Liu D.
  TITLE     USP15 Enhances the Proliferation, Migration, and Collagen
            Deposition of Hypertrophic Scar-Derived Fibroblasts by
            Deubiquitinating TGF-betaR1 In Vitro
  JOURNAL   Plast Reconstr Surg 148 (5), 1040-1051 (2021)
   PUBMED   34546211
  REMARK    GeneRIF: USP15 Enhances the Proliferation, Migration, and Collagen
            Deposition of Hypertrophic Scar-Derived Fibroblasts by
            Deubiquitinating TGF-betaR1 In Vitro.
REFERENCE   5  (residues 1 to 648)
  AUTHORS   Nguyen TV.
  TITLE     USP15 antagonizes CRL4CRBN-mediated ubiquitylation of glutamine
            synthetase and neosubstrates
  JOURNAL   Proc Natl Acad Sci U S A 118 (40) (2021)
   PUBMED   34583995
  REMARK    GeneRIF: USP15 antagonizes CRL4(CRBN)-mediated ubiquitylation of
            glutamine synthetase and neosubstrates.
REFERENCE   6  (residues 1 to 648)
  AUTHORS   Vos RM, Altreuter J, White EA and Howley PM.
  TITLE     The ubiquitin-specific peptidase USP15 regulates human
            papillomavirus type 16 E6 protein stability
  JOURNAL   J Virol 83 (17), 8885-8892 (2009)
   PUBMED   19553310
  REMARK    GeneRIF: These results implicate USP15 directly in the regulation
            of E6 protein stability and suggest that ubiquitylated E6 could be
            a substrate for USP15 ubiquitin peptidase activity.
REFERENCE   7  (residues 1 to 648)
  AUTHORS   de Jong RN, Ab E, Diercks T, Truffault V, Daniels M, Kaptein R and
            Folkers GE.
  TITLE     Solution structure of the human ubiquitin-specific protease 15 DUSP
            domain
  JOURNAL   J Biol Chem 281 (8), 5026-5031 (2006)
   PUBMED   16298993
  REMARK    GeneRIF: analysis of the human ubiquitin-specific protease 15 DUSP
            domain
REFERENCE   8  (residues 1 to 648)
  AUTHORS   Hetfeld BK, Helfrich A, Kapelari B, Scheel H, Hofmann K, Guterman
            A, Glickman M, Schade R, Kloetzel PM and Dubiel W.
  TITLE     The zinc finger of the CSN-associated deubiquitinating enzyme USP15
            is essential to rescue the E3 ligase Rbx1
  JOURNAL   Curr Biol 15 (13), 1217-1221 (2005)
   PUBMED   16005295
  REMARK    GeneRIF: A functional Zn finger of USP15 is needed to maintain a
            conformation essential for disassembling poly-Ub chains, a
            prerequisite for rescuing the E3 ligase Rbx1.
REFERENCE   9  (residues 1 to 648)
  AUTHORS   Baker RT, Wang XW, Woollatt E, White JA and Sutherland GR.
  TITLE     Identification, functional characterization, and chromosomal
            localization of USP15, a novel human ubiquitin-specific protease
            related to the UNP oncoprotein, and a systematic nomenclature for
            human ubiquitin-specific proteases
  JOURNAL   Genomics 59 (3), 264-274 (1999)
   PUBMED   10444327
REFERENCE   10 (residues 1 to 648)
  AUTHORS   D'Andrea A and Pellman D.
  TITLE     Deubiquitinating enzymes: a new class of biological regulators
  JOURNAL   Crit Rev Biochem Mol Biol 33 (5), 337-352 (1998)
   PUBMED   9827704
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC117370.5, AC048342.17 and
            AC079035.46.
            
            Summary: This gene encodes a member of the ubiquitin specific
            protease (USP) family of deubiquitinating enzymes. USP enzymes play
            critical roles in ubiquitin-dependent processes through
            polyubiquitin chain disassembly and hydrolysis of
            ubiquitin-substrate bonds. The encoded protein associates with the
            COP9 signalosome, and also plays a role in transforming growth
            factor beta signalling through deubiquitination of
            receptor-activated SMAD transcription factors. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene, and a pseudogene of this gene is located on
            the long arm of chromosome 2. [provided by RefSeq, Nov 2011].
            
            Transcript Variant: This variant (11), as well as variants 8-10,
            encodes isoform 8.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.255480.1,
                                           SRR1803616.167097.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.1"
     Protein         1..648
                     /product="ubiquitin carboxyl-terminal hydrolase 15 isoform
                     8"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin carboxyl-terminal hydrolase 15; ubiquitin
                     thioesterase 15; deubiquitinating enzyme 15;
                     ubiquitin-specific-processing protease 15; ubiquitin
                     thiolesterase 15"
                     /calculated_mol_wt=74310
     Region          <1..599
                     /region_name="UBP12"
                     /note="Ubiquitin C-terminal hydrolase [Posttranslational
                     modification, protein turnover, chaperones]; COG5560"
                     /db_xref="CDD:227847"
     CDS             1..648
                     /gene="USP15"
                     /gene_synonym="UNPH-2; UNPH4"
                     /coded_by="NM_001351166.2:1157..3103"
                     /note="isoform 8 is encoded by transcript variant 11"
                     /db_xref="GeneID:9958"
                     /db_xref="HGNC:HGNC:12613"
                     /db_xref="MIM:604731"
ORIGIN      
        1 mrgeiaksya elikqmwsgk fsyvtprafk tqvgrfapqf sgyqqqdcqe llaflldglh
       61 edlnrirkkp yiqlkdadgr pdkvvaeeaw enhlkrndsi ivdifhglfk stlvcpecak
      121 isvtfdpfcy ltlplpmkke rtlevylvrm dpltkpmqyk vvvpkignil dlctalsals
      181 gipadkmivt diynhrfhri famdenlssi merddiyvfe ininrtedte hviipvclre
      241 kfrhssythh tgsslfgqpf lmavprnnte dklynllllr mcryvkiste teetegslhc
      301 ckdqningng pngiheegsp semetdepdd essqdqelps enensqseds vggdndseng
      361 lctedtckgq ltghkkrlft fqfnnlgntd inyikddtrh irfddrqlrl dersflaldw
      421 dpdlkkryfd enaaedfekh esveykppkk pfvklkdcie lfttkeklga edpwycpnck
      481 ehqqatkkld lwslppvlvv hlkrfsysry mrdkldtlvd fpindldmse flinpnagpc
      541 rynliavsnh yggmggghyt afaknkddgk wyyfddssvs tasedqivsk aayvlfyqrq
      601 dtfsgtgffp ldretkgasa atgiplesde dsndndndie nencmhtn
//
LOCUS       NP_001356858             700 aa            linear   PRI 05-APR-2023
DEFINITION  activating signal cointegrator 1 complex subunit 2 isoform 7 [Homo
            sapiens].
ACCESSION   NP_001356858
VERSION     NP_001356858.1
DBSOURCE    REFSEQ: accession NM_001369929.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 700)
  AUTHORS   Narita M, Denk T, Matsuo Y, Sugiyama T, Kikuguchi C, Ito S, Sato N,
            Suzuki T, Hashimoto S, Machova I, Tesina P, Beckmann R and Inada T.
  TITLE     A distinct mammalian disome collision interface harbors K63-linked
            polyubiquitination of uS10 to trigger hRQT-mediated subunit
            dissociation
  JOURNAL   Nat Commun 13 (1), 6411 (2022)
   PUBMED   36302773
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 700)
  AUTHORS   Yang Y and Xu X.
  TITLE     Identification of key genes in coronary artery disease: an
            integrative approach based on weighted gene co-expression network
            analysis and their correlation with immune infiltration
  JOURNAL   Aging (Albany NY) 13 (6), 8306-8319 (2021)
   PUBMED   33686958
  REMARK    GeneRIF: Identification of key genes in coronary artery disease: an
            integrative approach based on weighted gene co-expression network
            analysis and their correlation with immune infiltration.
REFERENCE   3  (residues 1 to 700)
  AUTHORS   Jia J, Absmeier E, Holton N, Pietrzyk-Brzezinska AJ, Hackert P,
            Bohnsack KE, Bohnsack MT and Wahl MC.
  TITLE     The interaction of DNA repair factors ASCC2 and ASCC3 is affected
            by somatic cancer mutations
  JOURNAL   Nat Commun 11 (1), 5535 (2020)
   PUBMED   33139697
  REMARK    GeneRIF: The interaction of DNA repair factors ASCC2 and ASCC3 is
            affected by somatic cancer mutations.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 700)
  AUTHORS   Juszkiewicz S, Speldewinde SH, Wan L, Svejstrup JQ and Hegde RS.
  TITLE     The ASC-1 Complex Disassembles Collided Ribosomes
  JOURNAL   Mol Cell 79 (4), 603-614 (2020)
   PUBMED   32579943
REFERENCE   5  (residues 1 to 700)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 700)
  AUTHORS   Soll JM, Brickner JR, Mudge MC and Mosammaparast N.
  TITLE     RNA ligase-like domain in activating signal cointegrator 1 complex
            subunit 1 (ASCC1) regulates ASCC complex function during alkylation
            damage
  JOURNAL   J Biol Chem 293 (35), 13524-13533 (2018)
   PUBMED   29997253
REFERENCE   7  (residues 1 to 700)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   8  (residues 1 to 700)
  AUTHORS   Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G,
            Tanaka Y, Rudnik-Schoneborn S, Orgeur M, Zerres K, Vogt S, van
            Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH,
            Hubner C, Stricker S, Meierhofer D, Stenzel W and Schuelke M.
  TITLE     Mutations in Subunits of the Activating Signal Cointegrator 1
            Complex Are Associated with Prenatal Spinal Muscular Atrophy and
            Congenital Bone Fractures
  JOURNAL   Am J Hum Genet 98 (3), 473-489 (2016)
   PUBMED   26924529
REFERENCE   9  (residues 1 to 700)
  AUTHORS   Lee JH, Cheng R, Honig LS, Feitosa M, Kammerer CM, Kang MS, Schupf
            N, Lin SJ, Sanders JL, Bae H, Druley T, Perls T, Christensen K,
            Province M and Mayeux R.
  TITLE     Genome wide association and linkage analyses identified three
            loci-4q25, 17q23.2, and 10q11.21-associated with variation in
            leukocyte telomere length: the Long Life Family Study
  JOURNAL   Front Genet 4, 310 (2014)
   PUBMED   24478790
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 700)
  AUTHORS   Jung DJ, Sung HS, Goo YW, Lee HM, Park OK, Jung SY, Lim J, Kim HJ,
            Lee SK, Kim TS, Lee JW and Lee YC.
  TITLE     Novel transcription coactivator complex containing activating
            signal cointegrator 1
  JOURNAL   Mol Cell Biol 22 (14), 5203-5211 (2002)
   PUBMED   12077347
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Z82171.2 and AC004882.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.81774.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..700
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..700
                     /product="activating signal cointegrator 1 complex subunit
                     2 isoform 7"
                     /note="ASC-1 complex subunit P100; trip4 complex subunit
                     p100"
                     /calculated_mol_wt=79468
     Region          416..455
                     /region_name="CUE_ASCC2"
                     /note="CUE domain found in activating signal cointegrator
                     1 complex subunit 2 (ASCC2) and similar proteins; cd14364"
                     /db_xref="CDD:270547"
     CDS             1..700
                     /gene="ASCC2"
                     /gene_synonym="ASC1p100; p100"
                     /coded_by="NM_001369929.1:115..2217"
                     /note="isoform 7 is encoded by transcript variant 12"
                     /db_xref="GeneID:84164"
                     /db_xref="HGNC:HGNC:24103"
                     /db_xref="MIM:614216"
ORIGIN      
        1 mpalpldqlq ithkdpktgk lrtspalvif detlqkclds ylryvprkfd egvasapevv
       61 dmqkrlhrsv fltflrmsth keskdhfisp safgeilynn flfdipkild lcvlfgkgns
      121 pllqkmigni ftqqpsyysd ldetlptilq vfsnilqhcg lqgdganttp qkleergrlt
      181 psdmpllelk divlylcdtc ttlwafldif placqtfqkh dfcyrlasfy eaaipemesa
      241 ikkrrledsk llgdlwqrls hsrkklmeif hiilnqicll pilesscdni qgfieeflqi
      301 fssllqekrf lrdydalfpv aedisllqqa ssvldetrta yilqavesaw egvdrrkatd
      361 akdpsvieep ngepngvtvt aeavsqassh penseeeecm gaaaavgpam cgveldslis
      421 qvkdllpdlg egfilacley yhydpeqvin nileerlapt lsqldrnldr emkpdptpll
      481 tsrhnvfqnd efdvfsrdsv dlsrvhkgks trkeentrsl lndkravaaq rqryeqysvv
      541 veepgeslpy hsvyyedeyd dtydgnqvga ndadsddeli srrpftipqv lrtkvpregq
      601 eeddddeedd adeeapkpdh fvqdpavlre kaearrmafl akkgyrhdss tavagsprgh
      661 gqsrettqer rkkeankatr anhnrrtmad rkrskgmips
//
LOCUS       NP_001007177              81 aa            linear   PRI 20-FEB-2021
DEFINITION  pancreatic progenitor cell differentiation and proliferation
            factor-like protein isoform a [Homo sapiens].
ACCESSION   NP_001007177
VERSION     NP_001007177.1
DBSOURCE    REFSEQ: accession NM_001007176.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 81)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N,
            Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar
            M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA820911.1, BC017981.1 and AC044893.5.
            
            Transcript Variant: This variant (1) encodes the shortest isoform
            (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138525.366053.1, BC017981.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..81
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q11.21"
     Protein         1..81
                     /product="pancreatic progenitor cell differentiation and
                     proliferation factor-like protein isoform a"
                     /note="pancreatic progenitor cell differentiation and
                     proliferation factor-like protein; exocrine
                     differentiation and proliferation factor-like protein"
                     /calculated_mol_wt=8802
     CDS             1..81
                     /gene="PPDPFL"
                     /gene_synonym="C8orf22"
                     /coded_by="NM_001007176.5:184..429"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS47854.1"
                     /db_xref="GeneID:492307"
                     /db_xref="HGNC:HGNC:31745"
ORIGIN      
        1 masvpsigcl larnqyyrks svssvsslts sdsvnfiddd kpqqglpeva estwwfksff
       61 hsepvlsnvr ikdlsatgmn s
//
LOCUS       NP_057525               1036 aa            linear   PRI 17-DEC-2022
DEFINITION  cysteine-rich motor neuron 1 protein precursor [Homo sapiens].
ACCESSION   NP_057525
VERSION     NP_057525.1
DBSOURCE    REFSEQ: accession NM_016441.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1036)
  AUTHORS   Park Y, Kim H, Seo H, Choi JY, Ma Y, Yun S, Min BJ, Seo ME, Yoo KH,
            Kang HJ, Im HJ and Kim JH.
  TITLE     Homozygote CRIM1 variant is associated with thiopurine-induced
            neutropenia in leukemic patients with both wildtype NUDT15 and TPMT
  JOURNAL   J Transl Med 18 (1), 265 (2020)
   PUBMED   32611418
  REMARK    GeneRIF: Homozygote CRIM1 variant is associated with
            thiopurine-induced neutropenia in leukemic patients with both
            wildtype NUDT15 and TPMT.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1036)
  AUTHORS   Maurizi E, Schiroli D, Atkinson SD, Mairs L, Courtney DG, O'Hagan
            B, McGilligan VE, Pagnamenta AT, Taylor JC, Vasquez JJD,
            Illanes-Velarde DE, Goldsmith D, Gouws P, Moore JE, Nesbit MA and
            Moore CBT.
  TITLE     A novel role for CRIM1 in the corneal response to UV and pterygium
            development
  JOURNAL   Exp Eye Res 179, 75-92 (2019)
   PUBMED   30365943
  REMARK    GeneRIF: We propose here a series of intracellular events where
            CRIM1 regulation of the ERK pathway prevents UV-induced cell
            proliferation and may play an important role in the in the
            pathogenesis of pterygium.
REFERENCE   3  (residues 1 to 1036)
  AUTHORS   Ogasawara N, Kudo T, Sato M, Kawasaki Y, Yonezawa S, Takahashi S,
            Miyagi Y, Natori Y and Sugiyama A.
  TITLE     Reduction of Membrane Protein CRIM1 Decreases E-Cadherin and
            Increases Claudin-1 and MMPs, Enhancing the Migration and Invasion
            of Renal Carcinoma Cells
  JOURNAL   Biol Pharm Bull 41 (4), 604-611 (2018)
   PUBMED   29607933
  REMARK    GeneRIF: CRIM1 regulates the expression of several
            epithelial-mesenchymal transition (EMT) related factors and appears
            to play a role in suppressing migration and invasion through
            control of EMT.
REFERENCE   4  (residues 1 to 1036)
  AUTHORS   Iyer S, Chhabra Y, Harvey TJ, Wang R, Chiu HS, Smith AG, Thomas WG,
            Pennisi DJ and Piper M.
  TITLE     CRIM1 is necessary for coronary vascular endothelial cell
            development and homeostasis
  JOURNAL   J Mol Histol 48 (1), 53-61 (2017)
   PUBMED   27803996
  REMARK    GeneRIF: these findings implicate CRIM1 in endothelial cell
            development and homeostasis in the coronary vasculature.
REFERENCE   5  (residues 1 to 1036)
  AUTHORS   Zeng H, Zhang Y, Yi Q, Wu Y, Wan R and Tang L.
  TITLE     CRIM1, a newfound cancer-related player, regulates the adhesion and
            migration of lung cancer cells
  JOURNAL   Growth Factors 33 (5-6), 384-392 (2015)
   PUBMED   26653968
  REMARK    GeneRIF: These observations provide evidence for the first time
            that CRIM1 plays a role in cancer cells by enhancing the migration
            and adhesion and increasing the expression of N-CAD and E-CAD.
REFERENCE   6  (residues 1 to 1036)
  AUTHORS   Polasek O, Marusic A, Rotim K, Hayward C, Vitart V, Huffman J,
            Campbell S, Jankovic S, Boban M, Biloglav Z, Kolcic I, Krzelj V,
            Terzic J, Matec L, Tometic G, Nonkovic D, Nincevic J, Pehlic M,
            Zedelj J, Velagic V, Juricic D, Kirac I, Belak Kovacevic S, Wright
            AF, Campbell H and Rudan I.
  TITLE     Genome-wide association study of anthropometric traits in Korcula
            Island, Croatia
  JOURNAL   Croat Med J 50 (1), 7-16 (2009)
   PUBMED   19260139
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (residues 1 to 1036)
  AUTHORS   Wilkinson L, Kolle G, Wen D, Piper M, Scott J and Little M.
  TITLE     CRIM1 regulates the rate of processing and delivery of bone
            morphogenetic proteins to the cell surface
  JOURNAL   J Biol Chem 278 (36), 34181-34188 (2003)
   PUBMED   12805376
  REMARK    GeneRIF: CRIM1 modulates BMP activity by affecting its processing
            and delivery to the cell surface
REFERENCE   8  (residues 1 to 1036)
  AUTHORS   Glienke J, Sturz A, Menrad A and Thierauch KH.
  TITLE     CRIM1 is involved in endothelial cell capillary formation in vitro
            and is expressed in blood vessels in vivo
  JOURNAL   Mech Dev 119 (2), 165-175 (2002)
   PUBMED   12464430
  REMARK    GeneRIF: CRIM1 has a role in capillary formation and maintenance
            during angiogenesis
REFERENCE   9  (residues 1 to 1036)
  AUTHORS   Georgas K, Bowles J, Yamada T, Koopman P and Little MH.
  TITLE     Characterisation of Crim1 expression in the developing mouse
            urogenital tract reveals a sexually dimorphic gonadal expression
            pattern
  JOURNAL   Dev Dyn 219 (4), 582-587 (2000)
   PUBMED   11084657
REFERENCE   10 (residues 1 to 1036)
  AUTHORS   Kolle G, Georgas K, Holmes GP, Little MH and Yamada T.
  TITLE     CRIM1, a novel gene encoding a cysteine-rich repeat protein, is
            developmentally regulated and implicated in vertebrate CNS
            development and organogenesis
  JOURNAL   Mech Dev 90 (2), 181-193 (2000)
   PUBMED   10642437
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009414.4, AB209139.1 and
            AF167706.1.
            
            Summary: This gene encodes a transmembrane protein containing six
            cysteine-rich repeat domains and an insulin-like growth
            factor-binding domain. The encoded protein may play a role in
            tissue development though interactions with members of the
            transforming growth factor beta family, such as bone morphogenetic
            proteins. [provided by RefSeq, Nov 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF167706.1, SRR1660809.144038.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000280527.7/ ENSP00000280527.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1036
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.2"
     Protein         1..1036
                     /product="cysteine-rich motor neuron 1 protein precursor"
                     /note="cysteine-rich repeat-containing protein S52;
                     cysteine-rich motor neuron 1 protein; cysteine rich
                     transmembrane BMP regulator 1 (chordin-like)"
                     /calculated_mol_wt=110276
     sig_peptide     1..34
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3481
     mat_peptide     35..1036
                     /product="cysteine-rich motor neuron 1 protein"
                     /calculated_mol_wt=110276
     Region          39..90
                     /region_name="IGFBP"
                     /note="Insulin-like growth factor binding protein;
                     pfam00219"
                     /db_xref="CDD:425534"
     Site            71
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NZV1.1)"
     Site            113
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NZV1.1)"
     Region          314..316
                     /region_name="Cell attachment site. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NZV1.1)"
     Site            330
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NZV1.1)"
     Region          336..390
                     /region_name="VWC"
                     /note="von Willebrand factor (vWF) type C domain;
                     smart00214"
                     /db_xref="CDD:214564"
     Region          403..456
                     /region_name="VWC"
                     /note="von Willebrand factor (vWF) type C domain;
                     smart00214"
                     /db_xref="CDD:214564"
     Site            474
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NZV1.1)"
     Region          567..592
                     /region_name="Antistasin"
                     /note="Antistasin family; pfam02822"
                     /db_xref="CDD:427003"
     Region          612..662
                     /region_name="VWC"
                     /note="von Willebrand factor type C domain; cl17735"
                     /db_xref="CDD:450195"
     Region          683..734
                     /region_name="VWC"
                     /note="von Willebrand factor type C domain; cl17735"
                     /db_xref="CDD:450195"
     Site            746
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NZV1.1)"
     Region          758..808
                     /region_name="VWC"
                     /note="von Willebrand factor (vWF) type C domain;
                     smart00214"
                     /db_xref="CDD:214564"
     Region          819..873
                     /region_name="VWC"
                     /note="von Willebrand factor type C domain; cl17735"
                     /db_xref="CDD:450195"
     Region          907..1036
                     /region_name="CRIM1_C"
                     /note="Cysteine-rich motor neuron 1 protein C-terminal;
                     pfam19442"
                     /db_xref="CDD:437274"
     Site            940..960
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NZV1.1)"
     Site            1035
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NZV1.1)"
     CDS             1..1036
                     /gene="CRIM1"
                     /gene_synonym="CRIM-1; S52"
                     /coded_by="NM_016441.3:516..3626"
                     /db_xref="CCDS:CCDS1783.1"
                     /db_xref="GeneID:51232"
                     /db_xref="HGNC:HGNC:2359"
                     /db_xref="MIM:606189"
ORIGIN      
        1 mylvagdrgl agcghllvsl lglllllars gtralvclpc deskceeprn cpgsivqgvc
       61 gccytcasqr nescggtfgi ygtcdrglrc virpplngds lteyeagvce denwtddqll
      121 gfkpcnenli agcniingkc ecntirtcsn pfefpsqdmc lsalkrieee kpdcskarce
      181 vqfsprcped svliegyapp geccplpsrc vcnpagclrk vcqpgnlnil vskasgkpge
      241 ccdlyeckpv fgvdcrtvec ppvqqtacpp dsyetqvrlt adgcctlptr ceclsglcgf
      301 pvcevgstpr ivsrgdgtpg kccdvfecvn dtkpacvfnn veyydgdmfr mdncrfcrcq
      361 ggvaicftaq cgeinceryy vpegeccpvc edpvypfnnp agcyanglil ahgdrwredd
      421 ctfcqcvnge rhcvatvcgq tctnpvkvpg eccpvceept iitvdppacg elsnctltgk
      481 dcingfkrdh ngcrtcqcin teelcserkq gctlncpfgf ltdaqnceic ecrprpkkcr
      541 piicdkycpl gllknkhgcd icrckkcpel scskicplgf qqdshgclic kcreasasag
      601 ppilsgtclt vdghhhknee swhdgcrecy clngremcal itcpvpacgn ptihpgqccp
      661 scaddfvvqk pelstpsich apggeyfveg etwnidsctq ctchsgrvlc etevcppllc
      721 qnpsrtqdsc cpqctdqpfr pslsrnnsvp nyckndegdi flaaeswkpd vctscicids
      781 viscfsescp svscerpvlr kgqccpycie dtipkkvvch fsgkayadee rwdldscthc
      841 yclqgqtlcs tvscpplpcv epinvegscc pmcpemyvpe ptnipiektn hrgevdlevp
      901 lwptpsendi vhlprdmghl qvdyrdnrlh psedssldsi asvvvpiiic lsiiiaflfi
      961 nqkkqwipll cwyrtptkps slnnqlvsvd ckkgtrvqvd ssqrmlriae pdarfsgfys
     1021 mqkqnhlqad nfyqtv
//
LOCUS       NP_115670                505 aa            linear   PRI 17-DEC-2022
DEFINITION  calcium/calmodulin-dependent protein kinase kinase 1 isoform a
            [Homo sapiens].
ACCESSION   NP_115670
VERSION     NP_115670.1
DBSOURCE    REFSEQ: accession NM_032294.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 505)
  AUTHORS   Beghi S, Cavaliere F, Manfredini M, Ferrarese S, Corazzari C, Beghi
            C and Buschini A.
  TITLE     Polymorphism rs7214723 in CAMKK1: a new genetic variant associated
            with cardiovascular diseases
  JOURNAL   Biosci Rep 41 (7) (2021)
   PUBMED   34165505
  REMARK    GeneRIF: Polymorphism rs7214723 in CAMKK1: a new genetic variant
            associated with cardiovascular diseases.
REFERENCE   2  (residues 1 to 505)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   3  (residues 1 to 505)
  AUTHORS   Fujiwara Y, Kawaguchi Y, Fujimoto T, Kanayama N, Magari M and
            Tokumitsu H.
  TITLE     Differential AMP-activated Protein Kinase (AMPK) Recognition
            Mechanism of Ca2+/Calmodulin-dependent Protein Kinase Kinase
            Isoforms
  JOURNAL   J Biol Chem 291 (26), 13802-13808 (2016)
   PUBMED   27151216
  REMARK    GeneRIF: Site-directed mutagenesis analysis revealed that Leu(358)
            in CaMKKbeta/Ile(322) in CaMKKalpha confer, at least in part, a
            distinct recognition of AMPK but not of CaMKIalpha.
REFERENCE   4  (residues 1 to 505)
  AUTHORS   Nanba K, Chen A, Nishimoto K and Rainey WE.
  TITLE     Role of Ca(2+)/calmodulin-dependent protein kinase kinase in
            adrenal aldosterone production
  JOURNAL   Endocrinology 156 (5), 1750-1756 (2015)
   PUBMED   25679868
  REMARK    GeneRIF: CaMKK1 does not play a pivotal role in the calcium
            signaling cascade regulating adrenal aldosterone production.
REFERENCE   5  (residues 1 to 505)
  AUTHORS   Zhang YH, Xu Q, Zhao Z, Wu J, Liu WX, Wang H, Jin L and Wang JC.
  TITLE     Polymorphism rs7214723 in CAMKK1 and lung cancer risk in Chinese
            population
  JOURNAL   Tumour Biol 34 (5), 3147-3152 (2013)
   PUBMED   23737288
  REMARK    GeneRIF: CAMKK1 might contribute to the risk of lung cancer in
            Chinese populations.
REFERENCE   6  (residues 1 to 505)
  AUTHORS   Matsushita M and Nairn AC.
  TITLE     Inhibition of the Ca2+/calmodulin-dependent protein kinase I
            cascade by cAMP-dependent protein kinase
  JOURNAL   J Biol Chem 274 (15), 10086-10093 (1999)
   PUBMED   10187789
REFERENCE   7  (residues 1 to 505)
  AUTHORS   Matsushita M and Nairn AC.
  TITLE     Characterization of the mechanism of regulation of Ca2+/
            calmodulin-dependent protein kinase I by calmodulin and by
            Ca2+/calmodulin-dependent protein kinase kinase
  JOURNAL   J Biol Chem 273 (34), 21473-21481 (1998)
   PUBMED   9705275
REFERENCE   8  (residues 1 to 505)
  AUTHORS   Tokumitsu H and Soderling TR.
  TITLE     Requirements for calcium and calmodulin in the calmodulin kinase
            activation cascade
  JOURNAL   J Biol Chem 271 (10), 5617-5622 (1996)
   PUBMED   8621423
REFERENCE   9  (residues 1 to 505)
  AUTHORS   Tokumitsu H, Enslen H and Soderling TR.
  TITLE     Characterization of a Ca2+/calmodulin-dependent protein kinase
            cascade. Molecular cloning and expression of
            calcium/calmodulin-dependent protein kinase kinase
  JOURNAL   J Biol Chem 270 (33), 19320-19324 (1995)
   PUBMED   7642608
REFERENCE   10 (residues 1 to 505)
  AUTHORS   Selbert MA, Anderson KA, Huang QH, Goldstein EG, Means AR and
            Edelman AM.
  TITLE     Phosphorylation and activation of Ca(2+)-calmodulin-dependent
            protein kinase IV by Ca(2+)-calmodulin-dependent protein kinase Ia
            kinase. Phosphorylation of threonine 196 is essential for
            activation
  JOURNAL   J Biol Chem 270 (29), 17616-17621 (1995)
   PUBMED   7615569
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005940.3.
            
            Summary: The product of this gene belongs to the Serine/Threonine
            protein kinase family, and to the Ca(2+)/calmodulin-dependent
            protein kinase subfamily. This protein plays a role in the
            calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript
            variants encoding two distinct isoforms have been identified for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL136576.1, AF425232.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000348335.7/ ENSP00000323118.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..505
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     Protein         1..505
                     /product="calcium/calmodulin-dependent protein kinase
                     kinase 1 isoform a"
                     /EC_number="2.7.11.17"
                     /note="CAMKK alpha protein; caMKK 1; caM-KK 1; caM-KK
                     alpha; caM-kinase kinase 1; caM-kinase IV kinase;
                     caM-kinase kinase alpha; calcium/calmodulin-dependent
                     protein kinase kinase alpha; calcium/calmodulin-dependent
                     protein kinase kinase 1, alpha"
                     /calculated_mol_wt=55605
     Region          26..61
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N5S9.2)"
     Site            67
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N5S9.2)"
     Site            74
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VBY2; propagated from
                     UniProtKB/Swiss-Prot (Q8N5S9.2)"
     Site            78
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8VBY2; propagated from
                     UniProtKB/Swiss-Prot (Q8N5S9.2)"
     Site            100
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VBY2; propagated from
                     UniProtKB/Swiss-Prot (Q8N5S9.2)"
     Site            108
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P97756; propagated from
                     UniProtKB/Swiss-Prot (Q8N5S9.2)"
     Region          127..410
                     /region_name="STKc_CaMKK1"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Calmodulin Dependent Protein Kinase Kinase 1; cd14200"
                     /db_xref="CDD:271102"
     Site            order(134..138,142,155,157,212,230..233,237,239,275,277,
                     279..280,282,293,296,312..315)
                     /site_type="active"
                     /db_xref="CDD:271102"
     Site            order(134..138,142,155,157,212,230..233,237,275,277,
                     279..280,282,293)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271102"
     Site            order(138,237,239,275,277,279,296,312..315)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271102"
     Region          167..189
                     /region_name="RP domain"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N5S9.2)"
     Site            292..315
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271102"
     Region          435..440
                     /region_name="Autoinhibitory domain.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N5S9.2)"
     Region          438..463
                     /region_name="Calmodulin-binding. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N5S9.2)"
     Site            458
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8N5S9.2)"
     Region          460..505
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N5S9.2)"
     Site            475
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97756; propagated from
                     UniProtKB/Swiss-Prot (Q8N5S9.2)"
     Site            492
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8N5S9.2)"
     CDS             1..505
                     /gene="CAMKK1"
                     /gene_synonym="CAMKKA"
                     /coded_by="NM_032294.3:159..1676"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS11038.1"
                     /db_xref="GeneID:84254"
                     /db_xref="HGNC:HGNC:1469"
                     /db_xref="MIM:611411"
ORIGIN      
        1 meggpavccq dpraelverv aaidvthlee adggpeptrn gvdppprara asvipgstsr
       61 llparpslsa rklslqerpa gsyleaqagp yatgpashis prawrrptie shhvaisdae
      121 dcvqlnqykl qseigkgayg vvrlaynese drhyamkvls kkkllkqygf prrppprgsq
      181 aaqggpakql lplervyqei ailkkldhvn vvklievldd paednlylvf dllrkgpvme
      241 vpcdkpfsee qarlylrdvi lgleylhcqk ivhrdikpsn lllgddghvk iadfgvsnqf
      301 egndaqlsst agtpafmape aisdsgqsfs gkaldvwatg vtlycfvygk cpfiddfila
      361 lhrkiknepv vfpeepeise elkdlilkml dknpetrigv pdiklhpwvt kngeeplpse
      421 eehcsvvevt eeevknsvrl ipswttvilv ksmlrkrsfg npfepqarre ersmsapgnl
      481 lvkegfgegg kspelpgvqe deaas
//
LOCUS       NP_001230443             435 aa            linear   PRI 17-DEC-2022
DEFINITION  estrogen-related receptor gamma isoform 2 [Homo sapiens].
ACCESSION   NP_001230443
VERSION     NP_001230443.1
DBSOURCE    REFSEQ: accession NM_001243514.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 435)
  AUTHORS   Guo X, Yue L, Li M, Dai A, Sun J, Fang L, Zhao H and Sun Q.
  TITLE     Nuclear receptor estrogen-related receptor gamma suppresses
            colorectal cancer aggressiveness by regulating Wnt/beta-catenin
            signaling
  JOURNAL   Carcinogenesis 43 (9), 865-873 (2022)
   PUBMED   35728800
  REMARK    GeneRIF: Nuclear receptor estrogen-related receptor gamma
            suppresses colorectal cancer aggressiveness by regulating
            Wnt/beta-catenin signaling.
REFERENCE   2  (residues 1 to 435)
  AUTHORS   Zou Z, Harris LK, Forbes K and Heazell AEP.
  TITLE     Sex-specific effects of bisphenol A on the signaling pathway of
            ESRRG in the human placentadagger
  JOURNAL   Biol Reprod 106 (6), 1278-1291 (2022)
   PUBMED   35220427
  REMARK    GeneRIF: Sex-specific effects of bisphenol A on the signaling
            pathway of ESRRG in the human placentadagger.
REFERENCE   3  (residues 1 to 435)
  AUTHORS   Sakamoto T, Batmanov K, Wan S, Guo Y, Lai L, Vega RB and Kelly DP.
  TITLE     The nuclear receptor ERR cooperates with the cardiogenic factor
            GATA4 to orchestrate cardiomyocyte maturation
  JOURNAL   Nat Commun 13 (1), 1991 (2022)
   PUBMED   35418170
  REMARK    GeneRIF: The nuclear receptor ERR cooperates with the cardiogenic
            factor GATA4 to orchestrate cardiomyocyte maturation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 435)
  AUTHORS   Li W, Gong M, Park YP, Elshikha AS, Choi SC, Brown J, Kanda N, Yeh
            WI, Peters L, Titov AA, Teng X, Brusko TM and Morel L.
  TITLE     Lupus susceptibility gene Esrrg modulates regulatory T cells
            through mitochondrial metabolism
  JOURNAL   JCI Insight 6 (14), e143540 (2021)
   PUBMED   34156979
  REMARK    GeneRIF: Lupus susceptibility gene Esrrg modulates regulatory T
            cells through mitochondrial metabolism.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 435)
  AUTHORS   Kim BE, Choi B, Park WR, Kim YJ, Kim IY, Jung YS, Kim YH, Lee CH,
            Choi HS and Kim DK.
  TITLE     Orphan Nuclear Receptor ERRgamma Is a Transcriptional Regulator of
            CB1 Receptor-Mediated TFR2 Gene Expression in Hepatocytes
  JOURNAL   Int J Mol Sci 22 (11), 6021 (2021)
   PUBMED   34199599
  REMARK    GeneRIF: Orphan Nuclear Receptor ERRgamma Is a Transcriptional
            Regulator of CB1 Receptor-Mediated TFR2 Gene Expression in
            Hepatocytes.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 435)
  AUTHORS   Greschik H, Wurtz JM, Sanglier S, Bourguet W, van Dorsselaer A,
            Moras D and Renaud JP.
  TITLE     Structural and functional evidence for ligand-independent
            transcriptional activation by the estrogen-related receptor 3
  JOURNAL   Mol Cell 9 (2), 303-313 (2002)
   PUBMED   11864604
  REMARK    GeneRIF: Transcriptional activation by ERR3 can be
            ligand-independent.
REFERENCE   7  (residues 1 to 435)
  AUTHORS   Heard DJ, Norby PL, Holloway J and Vissing H.
  TITLE     Human ERRgamma, a third member of the estrogen receptor-related
            receptor (ERR) subfamily of orphan nuclear receptors:
            tissue-specific isoforms are expressed during development and in
            the adult
  JOURNAL   Mol Endocrinol 14 (3), 382-392 (2000)
   PUBMED   10707956
REFERENCE   8  (residues 1 to 435)
  AUTHORS   Hong H, Yang L and Stallcup MR.
  TITLE     Hormone-independent transcriptional activation and coactivator
            binding by novel orphan nuclear receptor ERR3
  JOURNAL   J Biol Chem 274 (32), 22618-22626 (1999)
   PUBMED   10428842
REFERENCE   9  (residues 1 to 435)
  AUTHORS   Chen F, Zhang Q, McDonald T, Davidoff MJ, Bailey W, Bai C, Liu Q
            and Caskey CT.
  TITLE     Identification of two hERR2-related novel nuclear receptors
            utilizing bioinformatics and inverse PCR
  JOURNAL   Gene 228 (1-2), 101-109 (1999)
   PUBMED   10072763
REFERENCE   10 (residues 1 to 435)
  AUTHORS   Eudy JD, Yao S, Weston MD, Ma-Edmonds M, Talmadge CB, Cheng JJ,
            Kimberling WJ and Sumegi J.
  TITLE     Isolation of a gene encoding a novel member of the nuclear receptor
            superfamily from the critical region of Usher syndrome type IIa at
            1q41
  JOURNAL   Genomics 50 (3), 382-384 (1998)
   PUBMED   9676434
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC096635.2, AY388461.1,
            AB020639.1 and BU752915.1.
            
            Summary: This gene encodes a member of the estrogen
            receptor-related receptor (ESRR) family, which belongs to the
            nuclear hormone receptor superfamily. All members of the ESRR
            family share an almost identical DNA binding domain, which is
            composed of two C4-type zinc finger motifs. The ESRR members are
            orphan nuclear receptors; they bind to the estrogen response
            element and steroidogenic factor 1 response element, and activate
            genes controlled by both response elements in the absence of any
            ligands. The ESRR family is closely related to the estrogen
            receptor (ER) family. They share target genes, co-regulators and
            promoters, and by targeting the same set of genes, the ESRRs seem
            to interfere with the ER-mediated estrogen response in various
            ways. It has been reported that the family member encoded by this
            gene functions as a transcriptional activator of DNA
            cytosine-5-methyltransferases 1 (Dnmt1) expression by direct
            binding to its response elements in the DNMT1 promoters, modulates
            cell proliferation and estrogen signaling in breast cancer, and
            negatively regulates bone morphogenetic protein 2-induced
            osteoblast differentiation and bone formation. Multiple
            alternatively spliced transcript variants have been identified,
            which mainly differ at the 5' end and some of which encode protein
            isoforms differing in the N-terminal region. [provided by RefSeq,
            Aug 2011].
            
            Transcript Variant: This variant (14) lacks the 5' exon but has an
            alternate 5' exon and uses a downstream AUG start codon, compared
            to variant 1. The resulting isoform (2) is shorter at the
            N-terminus, compared to isoform 1. Variants 2-4, 9-15, and 17-21
            encode the same isoform.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803612.73108.1, SRR1803614.69207.1
                                    [ECO:0000331]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..435
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q41"
     Protein         1..435
                     /product="estrogen-related receptor gamma isoform 2"
                     /note="estrogen receptor-related protein 3; nuclear
                     receptor subfamily 3 group B member 3; ERR gamma-2"
                     /calculated_mol_wt=48450
     Region          99..195
                     /region_name="NR_DBD_ERR"
                     /note="DNA-binding domain of estrogen related receptors
                     (ERR) is composed of two C4-type zinc fingers; cd07170"
                     /db_xref="CDD:143544"
     Site            order(103,115..118,123..124,126..128,130..131,134,
                     154..155,158,161,175..176,179..186)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143544"
     Site            order(105,108,122,125,141,147,157,160)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143544"
     Region          214..433
                     /region_name="NR_LBD_ERR"
                     /note="The ligand binding domain of estrogen
                     receptor-related nuclear receptors; cd06946"
                     /db_xref="CDD:132744"
     Site            order(242,245,249,252,290,303,307,317..319,412,415,417)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:132744"
     Site            order(257,271,274..275,278..279,425..426,429..430)
                     /site_type="other"
                     /note="coactivator recognition site [polypeptide binding]"
                     /db_xref="CDD:132744"
     Site            353
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:132744"
     CDS             1..435
                     /gene="ESRRG"
                     /gene_synonym="ERR-gamma; ERR3; ERRg; ERRgamma; NR3B3"
                     /coded_by="NM_001243514.2:457..1764"
                     /note="isoform 2 is encoded by transcript variant 14"
                     /db_xref="CCDS:CCDS1517.1"
                     /db_xref="GeneID:2104"
                     /db_xref="HGNC:HGNC:3474"
                     /db_xref="MIM:602969"
ORIGIN      
        1 msnkdrhids scssfiktep sspasltdsv nhhspggssd asgsysstmn ghqngldspp
       61 lypsapilgg sgpvrklydd csstivedpq tkceymlnsm pkrlclvcgd iasgyhygva
      121 sceackaffk rtiqgnieys cpatneceit krrrkscqac rfmkclkvgm lkegvrldrv
      181 rggrqkykrr idaenspyln pqlvqpakkp ynkivshllv aepekiyamp dptvpdsdik
      241 alttlcdlad relvviigwa khipgfstls ladqmsllqs awmeililgv vyrslsfede
      301 lvyaddyimd edqsklagll dlnnailqlv kkyksmklek eefvtlkaia lansdsmhie
      361 dveavqklqd vlhealqdye agqhmedprr agkmlmtlpl lrqtstkavq hfyniklegk
      421 vpmhklflem leakv
//
LOCUS       NP_001278225             380 aa            linear   PRI 17-DEC-2022
DEFINITION  KICSTOR complex protein kaptin isoform 2 [Homo sapiens].
ACCESSION   NP_001278225 XP_005258524
VERSION     NP_001278225.1
DBSOURCE    REFSEQ: accession NM_001291296.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 380)
  AUTHORS   Pacio Miguez M, Santos-Simarro F, Garcia-Minaur S, Velazquez Fragua
            R, Del Pozo A, Solis M, Jimenez Rodriguez C, Rufo-Rabadan V,
            Fernandez VE, Rueda I, Gomez Del Pozo MV, Gallego N, Lapunzina P
            and Palomares-Bralo M.
  TITLE     Pathogenic variants in KPTN, a rare cause of macrocephaly and
            intellectual disability
  JOURNAL   Am J Med Genet A 182 (10), 2222-2225 (2020)
   PUBMED   32808430
  REMARK    GeneRIF: Pathogenic variants in KPTN, a rare cause of macrocephaly
            and intellectual disability.
REFERENCE   2  (residues 1 to 380)
  AUTHORS   Thiffault I, Atherton A, Heese BA, T Abdelmoity A, Pawar K, Farrow
            E, Zellmer L, Miller N, Soden S and Saunders C.
  TITLE     Pathogenic variants in KPTN gene identified by clinical
            whole-genome sequencing
  JOURNAL   Cold Spring Harb Mol Case Stud 6 (3), a003970 (2020)
   PUBMED   32358097
  REMARK    GeneRIF: Pathogenic variants in KPTN gene identified by clinical
            whole-genome sequencing.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 380)
  AUTHORS   Wolfson RL, Chantranupong L, Wyant GA, Gu X, Orozco JM, Shen K,
            Condon KJ, Petri S, Kedir J, Scaria SM, Abu-Remaileh M, Frankel WN
            and Sabatini DM.
  TITLE     KICSTOR recruits GATOR1 to the lysosome and is necessary for
            nutrients to regulate mTORC1
  JOURNAL   Nature 543 (7645), 438-442 (2017)
   PUBMED   28199306
  REMARK    GeneRIF: identification of a protein complex (KICSTOR) that is
            composed of four proteins, KPTN, ITFG2, C12orf66 and SZT2, and that
            is required for amino acid or glucose deprivation to inhibit mTORC1
            in cultured human cells
REFERENCE   4  (residues 1 to 380)
  AUTHORS   Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S,
            Barwick K, Skrzypiec A, Pawlak R, Wagner K, Coblentz R, Zainy T,
            Patton MA, Mansour S, Rich P, Qualmann B, Hurles ME, Kessels MM and
            Crosby AH.
  TITLE     Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and
            seizures
  JOURNAL   Am J Hum Genet 94 (1), 87-94 (2014)
   PUBMED   24239382
  REMARK    GeneRIF: We have demonstrated that mutations in KPTN, encoding
            kaptin, cause a syndrome typified by macrocephaly,
            neurodevelopmental delay, and seizures.
REFERENCE   5  (residues 1 to 380)
  AUTHORS   Bearer EL, Chen AF, Chen AH, Li Z, Mark HF, Smith RJ and Jackson
            CL.
  TITLE     2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus,
            DFNA4
  JOURNAL   Ann Hum Genet 64 (Pt 3), 189-196 (2000)
   PUBMED   11409409
REFERENCE   6  (residues 1 to 380)
  AUTHORS   Bearer EL and Abraham MT.
  TITLE     2E4 (kaptin): a novel actin-associated protein from human blood
            platelets found in lamellipodia and the tips of the stereocilia of
            the inner ear
  JOURNAL   Eur J Cell Biol 78 (2), 117-126 (1999)
   PUBMED   10099934
REFERENCE   7  (residues 1 to 380)
  AUTHORS   Bearer EL.
  TITLE     An actin-associated protein present in the microtubule organizing
            center and the growth cones of PC-12 cells
  JOURNAL   J Neurosci 12 (3), 750-761 (1992)
   PUBMED   1372044
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA129265.1, DR759729.1,
            AK298672.1 and BG388698.1.
            On Apr 3, 2014 this sequence version replaced XP_005258524.1.
            
            Summary: This gene encodes a filamentous-actin-associated protein,
            which is involved in actin dynamics and plays an important role in
            neuromorphogenesis. This protein is part of the KICSTOR protein
            complex that localizes to lysosomes. Mutations in this gene result
            in an autosomal recessive form of intellectual disability.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Jul 2017].
            
            Transcript Variant: This variant (2) lacks two consecutive exons in
            the 5' coding region, but maintains the reading frame, compared to
            variant 1. The resulting isoform (2) lacks an internal segment,
            compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.809154.1,
                                           SRR9304717.751923.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..380
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     Protein         1..380
                     /product="KICSTOR complex protein kaptin isoform 2"
                     /note="actin-associated protein 2E4; KICSTOR complex
                     protein kaptin; epididymis secretory sperm binding
                     protein"
                     /calculated_mol_wt=41871
     Region          261..328
                     /region_name="VCBS"
                     /note="Repeat domain in Vibrio, Colwellia, Bradyrhizobium
                     and Shewanella; pfam13517"
                     /db_xref="CDD:433275"
     CDS             1..380
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /coded_by="NM_001291296.2:60..1202"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:11133"
                     /db_xref="HGNC:HGNC:6404"
                     /db_xref="MIM:615620"
ORIGIN      
        1 mmgeaavaag pcplredsft rfssqsnvyg laggaggrge llaatlkgkv lgfryqdlrq
       61 kirpvakelq fnyipescln lelqftpfql chaevqvgdq letvfllsgn dpaihlyken
      121 eglhqfeeqp venlfpeltn ltssvlwldv hnfpgtsrrl salgcqsgyv rvahvdqrsr
      181 evlqmwsvlq dgpisrvivf slsaaketkd rplqdeysvl vasmlepavv yrdllnrgle
      241 dqlllpgsdq fdsvlcslvt dvdldgrpev lvatygqell cykyrgpesg lpeaqhgfhl
      301 lwqrsfsspl lamahvdltg dglqelavvs lkgvhilqhs liqaselvlt rlrhqveqrr
      361 rrlqgledga gagpaenaas
//
LOCUS       NP_569057                742 aa            linear   PRI 18-DEC-2022
DEFINITION  collectin-12 [Homo sapiens].
ACCESSION   NP_569057
VERSION     NP_569057.2
DBSOURCE    REFSEQ: accession NM_130386.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 742)
  AUTHORS   Li GZ, Deng JF, Qi YZ, Liu R and Liu ZX.
  TITLE     COLEC12 regulates apoptosis of osteosarcoma through Toll-like
            receptor 4-activated inflammation
  JOURNAL   J Clin Lab Anal 34 (11), e23469 (2020)
   PUBMED   32822099
  REMARK    GeneRIF: COLEC12 regulates apoptosis of osteosarcoma through
            Toll-like receptor 4-activated inflammation.
REFERENCE   2  (residues 1 to 742)
  AUTHORS   Zhang J, Song L, Pedersen DV, Li A, Lambris JD, Andersen GR,
            Mollnes TE, Ma YJ and Garred P.
  TITLE     Soluble collectin-12 mediates C3-independent docking of properdin
            that activates the alternative pathway of complement
  JOURNAL   Elife 9, e60908 (2020)
   PUBMED   32909942
  REMARK    GeneRIF: Soluble collectin-12 mediates C3-independent docking of
            properdin that activates the alternative pathway of complement.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 742)
  AUTHORS   Chang LL, Hsu WH, Kao MC, Chou CC, Lin CC, Liu CJ, Weng BC, Kuo FC,
            Kuo CH, Lin MH, Wang CJ, Lin CH, Wu DC and Huang SK.
  TITLE     Stromal C-type lectin receptor COLEC12 integrates H. pylori,
            PGE2-EP2/4 axis and innate immunity in gastric diseases
  JOURNAL   Sci Rep 8 (1), 3821 (2018)
   PUBMED   29491476
  REMARK    GeneRIF: COLEC12 integrates H. pylori, PGE2-EP2/4 axis and innate
            immunity in gastric diseases
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 742)
  AUTHORS   Bogie JF, Mailleux J, Wouters E, Jorissen W, Grajchen E, Vanmol J,
            Wouters K, Hellings N, van Horssen J, Vanmierlo T and Hendriks JJ.
  TITLE     Scavenger receptor collectin placenta 1 is a novel receptor
            involved in the uptake of myelin by phagocytes
  JOURNAL   Sci Rep 7, 44794 (2017)
   PUBMED   28317919
  REMARK    GeneRIF: CL-P1 is a novel receptor involved in myelin uptake by
            phagocytes and likely plays a role in multiple sclerosis lesion
            development.
            Erratum:[Sci Rep. 2017 Dec 22;7:46925. PMID: 29271403]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 742)
  AUTHORS   Roy N, Ohtani K, Matsuda Y, Mori K, Hwang I, Suzuki Y, Inoue N and
            Wakamiya N.
  TITLE     Collectin CL-P1 utilizes C-reactive protein for complement
            activation
  JOURNAL   Biochim Biophys Acta 1860 (6), 1118-1128 (2016)
   PUBMED   26922829
REFERENCE   6  (residues 1 to 742)
  AUTHORS   Coombs PJ, Graham SA, Drickamer K and Taylor ME.
  TITLE     Selective binding of the scavenger receptor C-type lectin to Lewisx
            trisaccharide and related glycan ligands
  JOURNAL   J Biol Chem 280 (24), 22993-22999 (2005)
   PUBMED   15845541
  REMARK    GeneRIF: SRCL might be involved in selective clearance of specific
            desialylated glycoproteins from circulation and/or interaction of
            cells bearing Lewis(x)-type structures with the vascular
            endothelium
REFERENCE   7  (residues 1 to 742)
  AUTHORS   Yoshida T, Tsuruta Y, Iwasaki M, Yamane S, Ochi T and Suzuki R.
  TITLE     SRCL/CL-P1 recognizes GalNAc and a carcinoma-associated antigen, Tn
            antigen
  JOURNAL   J Biochem 133 (3), 271-277 (2003)
   PUBMED   12761161
  REMARK    GeneRIF: SRCL is expressed in some but not all nurse-like cells;
            its C-type lectin domain binds specifically to several
            carbohydrates including GalNAc, T and Tn antigen in a
            Ca2+-dependent manner.
REFERENCE   8  (residues 1 to 742)
  AUTHORS   Ohmori H, Makita Y, Funamizu M, Chiba S, Ohtani K, Suzuki Y,
            Wakamiya N and Hata A.
  TITLE     Haplotype analysis of the human collectin placenta 1 (hCL-P1) gene
  JOURNAL   J Hum Genet 48 (2), 82-85 (2003)
   PUBMED   12601552
  REMARK    GeneRIF: haplotype structure of the CL-P1 gene obtained from six
            single-nucleotide polymorphisms that were genotyped with 108
            alleles in Japanese subjects
REFERENCE   9  (residues 1 to 742)
  AUTHORS   Ohtani K, Suzuki Y, Eda S, Kawai T, Kase T, Keshi H, Sakai Y,
            Fukuoh A, Sakamoto T, Itabe H, Suzutani T, Ogasawara M, Yoshida I
            and Wakamiya N.
  TITLE     The membrane-type collectin CL-P1 is a scavenger receptor on
            vascular endothelial cells
  JOURNAL   J Biol Chem 276 (47), 44222-44228 (2001)
   PUBMED   11564734
REFERENCE   10 (residues 1 to 742)
  AUTHORS   Nakamura K, Funakoshi H, Miyamoto K, Tokunaga F and Nakamura T.
  TITLE     Molecular cloning and functional characterization of a human
            scavenger receptor with C-type lectin (SRCL), a novel member of a
            scavenger receptor family
  JOURNAL   Biochem Biophys Res Commun 280 (4), 1028-1035 (2001)
   PUBMED   11162630
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP005240.2 and AP000915.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NP_569057.1.
            
            Summary: This gene encodes a member of the C-lectin family,
            proteins that possess collagen-like sequences and carbohydrate
            recognition domains. This protein is a scavenger receptor that
            displays several functions associated with host defense. It can
            bind to carbohydrate antigens on microorganisms, facilitating their
            recognition and removal. It also mediates the recognition,
            internalization, and degradation of oxidatively modified low
            density lipoprotein by vascular endothelial cells. [provided by
            RefSeq, May 2018].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC060789.1, AB038518.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000400256.5/ ENSP00000383115.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..742
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.32"
     Protein         1..742
                     /product="collectin-12"
                     /note="scavenger receptor with C-type lectin; scavenger
                     receptor class A, member 4; nurse cell scavenger receptor
                     2; hCL-P1; collectin placenta protein 1; collectin
                     sub-family member 12"
                     /calculated_mol_wt=81384
     Site            38..58
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5KU26.3)"
     Site            67
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5KU26.3)"
     Region          <77..350
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Site            159
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5KU26.3)"
     Site            168
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5KU26.3)"
     Site            271
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5KU26.3)"
     Region          439..608
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5KU26.3)"
     Region          607..732
                     /region_name="CLECT_DC-SIGN_like"
                     /note="C-type lectin-like domain (CTLD) of the type found
                     in human dendritic cell (DC)-specific intercellular
                     adhesion molecule 3-grabbing non-integrin (DC-SIGN) and
                     the related receptor, DC-SIGN receptor (DC-SIGNR);
                     cd03590"
                     /db_xref="CDD:153060"
     Site            order(663,694,696,706,712..713,718..721)
                     /site_type="other"
                     /note="carbohydrate binding site"
                     /db_xref="CDD:153060"
     Site            order(670,674,697,706..707)
                     /site_type="other"
                     /note="calcium binding site 1 [ion binding]"
                     /db_xref="CDD:153060"
     Site            order(674,707)
                     /site_type="other"
                     /note="calcium binding site 3 [ion binding]"
                     /db_xref="CDD:153060"
     CDS             1..742
                     /gene="COLEC12"
                     /gene_synonym="CLP1; NSR2; SCARA4; SRCL"
                     /coded_by="NM_130386.3:188..2416"
                     /db_xref="CCDS:CCDS32782.1"
                     /db_xref="GeneID:81035"
                     /db_xref="HGNC:HGNC:16016"
                     /db_xref="MIM:607621"
ORIGIN      
        1 mkddfaeeee vqsfgykrfg iqegtqctkc knnwalkfsi illyilcall titvailgyk
       61 vvekmdnvtg gmetsrqtyd dkltavesdl kklgdqtgkk aistnselst frsdildlrq
      121 qlreitekts knkdtleklq asgdalvdrq sqlketlenn sflittvnkt lqayngyvtn
      181 lqqdtsvlqg nlqnqmyshn vvimnlnnln ltqvqqrnli tnlqrsvddt sqaiqriknd
      241 fqnlqqvflq akkdtdwlke kvqslqtlaa nnsalakann dtledmnsql nsftgqmeni
      301 ttisqaneqn lkdlqdlhkd aenrtaikfn qleerfqlfe tdivniisni sytahhlrtl
      361 tsnlnevrtt ctdtltkhtd dltslnntla nirldsvslr mqqdlmrsrl dtevanlsvi
      421 meemklvdsk hgqliknfti lqgppgprgp rgdrgsqgpp gptgnkgqkg ekgepgppgp
      481 agergpigpa gppgerggkg skgsqgpkgs rgspgkpgpq gssgdpgppg ppgkeglpgp
      541 qgppgfqglq gtvgepgvpg prglpglpgv pgmpgpkgpp gppgpsgavv plalqneptp
      601 apedngcpph wknftdkcyy fsvekeifed aklfcedkss hlvfintree qqwikkqmvg
      661 reshwigltd serenewkwl dgtspdyknw kagqpdnwgh ghgpgedcag liyagqwndf
      721 qcedvnnfic ekdretvlss al
//
LOCUS       NP_803186                318 aa            linear   PRI 19-DEC-2022
DEFINITION  taste receptor type 2 member 60 [Homo sapiens].
ACCESSION   NP_803186
VERSION     NP_803186.1
DBSOURCE    REFSEQ: accession NM_177437.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 318)
  AUTHORS   Thalmann S, Behrens M and Meyerhof W.
  TITLE     Major haplotypes of the human bitter taste receptor TAS2R41 encode
            functional receptors for chloramphenicol
  JOURNAL   Biochem Biophys Res Commun 435 (2), 267-273 (2013)
   PUBMED   23632330
REFERENCE   2  (residues 1 to 318)
  AUTHORS   Meyerhof W, Batram C, Kuhn C, Brockhoff A, Chudoba E, Bufe B,
            Appendino G and Behrens M.
  TITLE     The molecular receptive ranges of human TAS2R bitter taste
            receptors
  JOURNAL   Chem Senses 35 (2), 157-170 (2010)
   PUBMED   20022913
REFERENCE   3  (residues 1 to 318)
  AUTHORS   Go Y, Satta Y, Takenaka O and Takahata N.
  TITLE     Lineage-specific loss of function of bitter taste receptor genes in
            humans and nonhuman primates
  JOURNAL   Genetics 170 (1), 313-326 (2005)
   PUBMED   15744053
REFERENCE   4  (residues 1 to 318)
  AUTHORS   Fischer A, Gilad Y, Man O and Paabo S.
  TITLE     Evolution of bitter taste receptors in humans and apes
  JOURNAL   Mol Biol Evol 22 (3), 432-436 (2005)
   PUBMED   15496549
  REMARK    Erratum:[Mol Biol Evol. 2005 Apr;22(4):1157]
REFERENCE   5  (residues 1 to 318)
  AUTHORS   Shi P, Zhang J, Yang H and Zhang YP.
  TITLE     Adaptive diversification of bitter taste receptor genes in
            Mammalian evolution
  JOURNAL   Mol Biol Evol 20 (5), 805-814 (2003)
   PUBMED   12679530
REFERENCE   6  (residues 1 to 318)
  AUTHORS   Zhang Y, Hoon MA, Chandrashekar J, Mueller KL, Cook B, Wu D, Zuker
            CS and Ryba NJ.
  TITLE     Coding of sweet, bitter, and umami tastes: different receptor cells
            sharing similar signaling pathways
  JOURNAL   Cell 112 (3), 293-301 (2003)
   PUBMED   12581520
REFERENCE   7  (residues 1 to 318)
  AUTHORS   Montmayeur JP and Matsunami H.
  TITLE     Receptors for bitter and sweet taste
  JOURNAL   Curr Opin Neurobiol 12 (4), 366-371 (2002)
   PUBMED   12139982
  REMARK    Review article
REFERENCE   8  (residues 1 to 318)
  AUTHORS   Margolskee RF.
  TITLE     Molecular mechanisms of bitter and sweet taste transduction
  JOURNAL   J Biol Chem 277 (1), 1-4 (2002)
   PUBMED   11696554
  REMARK    Review article
REFERENCE   9  (residues 1 to 318)
  AUTHORS   Conte C, Ebeling M, Marcuz A, Nef P and Andres-Barquin PJ.
  TITLE     Identification and characterization of human taste receptor genes
            belonging to the TAS2R family
  JOURNAL   Cytogenet Genome Res 98 (1), 45-53 (2002)
   PUBMED   12584440
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY114094.1.
            
            Summary: This gene encodes a member of the bitter taste receptor
            family which belong to the G protein-coupled receptor superfamily
            and are predominantly expressed in taste receptor cells of the
            tongue and palate epithelia. This intronless taste receptor gene
            encodes a seven-transmembrane receptor protein, functioning as a
            bitter taste receptor. This gene is clustered together with eight
            other taste receptor genes on chromosome 7. [provided by RefSeq,
            Jul 2017].
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC100938.2 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332690.1/ ENSP00000327724.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..318
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q35"
     Protein         1..318
                     /product="taste receptor type 2 member 60"
                     /note="taste receptor type 2 member 56; taste receptor,
                     type 2, member 60"
                     /calculated_mol_wt=36206
     Site            8..28
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P59551.1)"
     Region          31..308
                     /region_name="7tm_TAS2R41-like"
                     /note="mammalian taste receptor 2, subtype 41, member of
                     the seven-transmembrane G protein-coupled receptor
                     superfamily; cd15018"
                     /db_xref="CDD:320146"
     Site            41..61
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P59551.1)"
     Region          56..80
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320146"
     Site            89..109
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P59551.1)"
     Region          94..116
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320146"
     Site            129..149
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P59551.1)"
     Region          143..159
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320146"
     Site            179
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P59551.1)"
     Site            184..204
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P59551.1)"
     Region          191..214
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320146"
     Site            235..255
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P59551.1)"
     Region          239..264
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320146"
     Site            265..285
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P59551.1)"
     Region          275..300
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320146"
     CDS             1..318
                     /gene="TAS2R60"
                     /gene_synonym="T2R56; T2R60"
                     /coded_by="NM_177437.1:1..957"
                     /db_xref="CCDS:CCDS5885.1"
                     /db_xref="GeneID:338398"
                     /db_xref="HGNC:HGNC:20639"
                     /db_xref="MIM:613968"
ORIGIN      
        1 mngdhmvlgs svtdkkaiil vtillllrlv aiagngfita algvewvlrr mllpcdkllv
       61 slgasrfclq svvmgktiyv flhpmafpyn pvlqflafqw dflnaatlws stwlsvfycv
      121 kiatfthpvf fwlkhklsgw lpwmlfssvg lssfttilff ignhrmyqny lrnhlqpwnv
      181 tgdsirsyce kfylfplkmi twtmptavff icmillitsl grhrkkallt tsgfrepsvq
      241 ahikallall sfamlfisyf lslvfsaagi fppldfkfwv wesviylcaa vhpiillfsn
      301 crlravlksr rssrcgtp
//
LOCUS       NP_001340166             419 aa            linear   PRI 24-DEC-2022
DEFINITION  nucleolar protein 4 isoform 6 [Homo sapiens].
ACCESSION   NP_001340166 XP_016881545
VERSION     NP_001340166.1
DBSOURCE    REFSEQ: accession NM_001353237.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 419)
  AUTHORS   Lee JH, Shin DH, Lee SY, Park JY, Kim SY, Hwang CS, Lee HJ, Na JY
            and Kim JY.
  TITLE     NOL4 is a novel nuclear marker of small cell carcinoma and other
            neuroendocrine neoplasms
  JOURNAL   Histol Histopathol 37 (11), 1091-1098 (2022)
   PUBMED   36282054
  REMARK    GeneRIF: NOL4 is a novel nuclear marker of small cell carcinoma and
            other neuroendocrine neoplasms.
REFERENCE   2  (residues 1 to 419)
  AUTHORS   Kim YR, Kim KU, Lee JH, Kim DW, Chung JH, Kim YD, Shin DH, Lee MK,
            Shin YI and Lee SY.
  TITLE     Cancer Testis Antigen, NOL4, Is an Immunogenic Antigen Specifically
            Expressed in Small-Cell Lung Cancer
  JOURNAL   Curr Oncol 28 (3), 1927-1937 (2021)
   PUBMED   34065612
  REMARK    GeneRIF: Cancer Testis Antigen, NOL4, Is an Immunogenic Antigen
            Specifically Expressed in Small-Cell Lung Cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 419)
  AUTHORS   Kumari PK, Ali A, Singh SK, Chaurasia A and Raman R.
  TITLE     Genetic heterogeneity in Van der Woude syndrome: identification of
            NOL4 and IRF6 haplotype from the noncoding region as candidates in
            two families
  JOURNAL   J Genet 97 (1), 275-285 (2018)
   PUBMED   29666346
  REMARK    GeneRIF: the cosegregation of an intronic rare variant in NOL4 in
            one family, and a haplotype consisting of three variants in the
            noncoding region of IRF6 (introns 1, 8 and 3'UTR) in the other
            family, are reported.
REFERENCE   4  (residues 1 to 419)
  AUTHORS   Demokan S, Chuang AY, Pattani KM, Sidransky D, Koch W and Califano
            JA.
  TITLE     Validation of nucleolar protein 4 as a novel methylated tumor
            suppressor gene in head and neck cancer
  JOURNAL   Oncol Rep 31 (2), 1014-1020 (2014)
   PUBMED   24337411
  REMARK    GeneRIF: NOL4 was identified as a highly specific promoter
            methylated gene associated with head and neck squamous cell
            carcinoma
REFERENCE   5  (residues 1 to 419)
  AUTHORS   Eriksson N, Benton GM, Do CB, Kiefer AK, Mountain JL, Hinds DA,
            Francke U and Tung JY.
  TITLE     Genetic variants associated with breast size also influence breast
            cancer risk
  JOURNAL   BMC Med Genet 13, 53 (2012)
   PUBMED   22747683
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 419)
  AUTHORS   Tsang HT, Connell JW, Brown SE, Thompson A, Reid E and Sanderson
            CM.
  TITLE     A systematic analysis of human CHMP protein interactions:
            additional MIT domain-containing proteins bind to multiple
            components of the human ESCRT III complex
  JOURNAL   Genomics 88 (3), 333-346 (2006)
   PUBMED   16730941
REFERENCE   7  (residues 1 to 419)
  AUTHORS   Ueki N, Oda T, Kondo M, Yano K, Noguchi T and Muramatsu M.
  TITLE     Selection system for genes encoding nuclear-targeted proteins
  JOURNAL   Nat Biotechnol 16 (13), 1338-1342 (1998)
   PUBMED   9853615
REFERENCE   8  (residues 1 to 419)
  AUTHORS   Ueki N, Kondo M, Seki N, Yano K, Oda T, Masuho Y and Muramatsu M.
  TITLE     NOLP: identification of a novel human nucleolar protein and
            determination of sequence requirements for its nucleolar
            localization
  JOURNAL   Biochem Biophys Res Commun 252 (1), 97-102 (1998)
   PUBMED   9813152
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104985.3, AC087397.10, AC018972.6, AC010798.9 and BM973283.1.
            On Jul 1, 2017 this sequence version replaced XP_016881545.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.186773.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..419
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     Protein         1..419
                     /product="nucleolar protein 4 isoform 6"
                     /note="nucleolar localized protein; cancer/testis antigen
                     125"
                     /calculated_mol_wt=45694
     CDS             1..419
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /coded_by="NM_001353237.1:805..2064"
                     /note="isoform 6 is encoded by transcript variant 12"
                     /db_xref="GeneID:8715"
                     /db_xref="HGNC:HGNC:7870"
                     /db_xref="MIM:603577"
ORIGIN      
        1 mscsecqkrm hlnpdgtdhk dngkpptlvt smidynmpit maymkhmklq llnsqqdede
       61 ssiesdefdm sdstrmsavn sdlssnleer mqspqnlhgq qdddsaaesf ngnetlghss
      121 iasggthsre mgdsnsdgkt gleqdeqpln lsdsplsaql tseyriddhn sngknkyknl
      181 lisdlkmere arengskspa hsyssydsgk nesvdrgaed lslnrgdede ddhedhddse
      241 kvnetdgvea erlkafnsrp ipshltsava esilasaces esrnaakrmr lerqqdesap
      301 adkqckpeat qatystsavp gsqdvlying ngtysyhsyr glgggllnln dasssgptdl
      361 smkrqlatss gsssssnsrp qlspteinav rqlvagyres aafllrsade lenlilqqn
//
LOCUS       NP_689714                492 aa            linear   PRI 24-DEC-2022
DEFINITION  pyrin and HIN domain-containing protein 1 isoform alpha 1 [Homo
            sapiens].
ACCESSION   NP_689714
VERSION     NP_689714.2
DBSOURCE    REFSEQ: accession NM_152501.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 492)
  AUTHORS   Massa D, Baran M, Bengoechea JA and Bowie AG.
  TITLE     PYHIN1 regulates pro-inflammatory cytokine induction rather than
            innate immune DNA sensing in airway epithelial cells
  JOURNAL   J Biol Chem 295 (14), 4438-4450 (2020)
   PUBMED   32102850
  REMARK    GeneRIF: PYHIN1 regulates pro-inflammatory cytokine induction
            rather than innate immune DNA sensing in airway epithelial cells.
REFERENCE   2  (residues 1 to 492)
  AUTHORS   Crow MS and Cristea IM.
  TITLE     Human Antiviral Protein IFIX Suppresses Viral Gene Expression
            during Herpes Simplex Virus 1 (HSV-1) Infection and Is Counteracted
            by Virus-induced Proteasomal Degradation
  JOURNAL   Mol Cell Proteomics 16 (4 suppl 1), S200-S214 (2017)
   PUBMED   28077445
  REMARK    GeneRIF: Study demonstrates that IFIX antiviral functions work in
            part via viral transcriptional suppression and that HSV-1 has
            acquired mechanisms to block its functions via proteasome-dependent
            degradation.
REFERENCE   3  (residues 1 to 492)
  AUTHORS   Torgerson DG, Ampleford EJ, Chiu GY, Gauderman WJ, Gignoux CR,
            Graves PE, Himes BE, Levin AM, Mathias RA, Hancock DB, Baurley JW,
            Eng C, Stern DA, Celedon JC, Rafaels N, Capurso D, Conti DV, Roth
            LA, Soto-Quiros M, Togias A, Li X, Myers RA, Romieu I, Van Den Berg
            DJ, Hu D, Hansel NN, Hernandez RD, Israel E, Salam MT, Galanter J,
            Avila PC, Avila L, Rodriquez-Santana JR, Chapela R,
            Rodriguez-Cintron W, Diette GB, Adkinson NF, Abel RA, Ross KD, Shi
            M, Faruque MU, Dunston GM, Watson HR, Mantese VJ, Ezurum SC, Liang
            L, Ruczinski I, Ford JG, Huntsman S, Chung KF, Vora H, Li X,
            Calhoun WJ, Castro M, Sienra-Monge JJ, del Rio-Navarro B, Deichmann
            KA, Heinzmann A, Wenzel SE, Busse WW, Gern JE, Lemanske RF Jr,
            Beaty TH, Bleecker ER, Raby BA, Meyers DA, London SJ, Gilliland FD,
            Burchard EG, Martinez FD, Weiss ST, Williams LK, Barnes KC, Ober C
            and Nicolae DL.
  CONSRTM   Mexico City Childhood Asthma Study (MCAAS); Children's Health Study
            (CHS) and HARBORS study; Genetics of Asthma in Latino Americans
            (GALA) Study, Study of Genes-Environment and Admixture in Latino
            Americans (GALA2) and Study of African Americans, Asthma, Genes &
            Environments (SAGE); Childhood Asthma Research and Education (CARE)
            Network; Childhood Asthma Management Program (CAMP); Study of
            Asthma Phenotypes and Pharmacogenomic Interactions by
            Race-Ethnicity (SAPPHIRE); Genetic Research on Asthma in African
            Diaspora (GRAAD) Study
  TITLE     Meta-analysis of genome-wide association studies of asthma in
            ethnically diverse North American populations
  JOURNAL   Nat Genet 43 (9), 887-892 (2011)
   PUBMED   21804549
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 492)
  AUTHORS   Kimkong,I., Avihingsanon,Y. and Hirankarn,N.
  TITLE     Association of IFI200 gene polymorphisms with susceptibility to
            systemic lupus erythematosus
  JOURNAL   J Rheumatol 37 (7), 1544-1547 (2010)
   PUBMED   20595294
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 492)
  AUTHORS   Yamaguchi H, Ding Y, Lee JF, Zhang M, Pal A, Bornmann W, Yan DH and
            Hung MC.
  TITLE     Interferon-inducible protein IFIXalpha inhibits cell invasion by
            upregulating the metastasis suppressor maspin
  JOURNAL   Mol Carcinog 47 (10), 739-743 (2008)
   PUBMED   18247378
  REMARK    GeneRIF: IFIXalpha suppressed the invasion activity of MDA-MB-468
            breast cancer cells, and its inhibitory effect was reversed by the
            knockdown of maspin
REFERENCE   6  (residues 1 to 492)
  AUTHORS   Ding Y, Lee JF, Lu H, Lee MH and Yan DH.
  TITLE     Interferon-inducible protein IFIXalpha1 functions as a negative
            regulator of HDM2
  JOURNAL   Mol Cell Biol 26 (5), 1979-1996 (2006)
   PUBMED   16479015
  REMARK    GeneRIF: IFIX alpha1 isoform functions as a tumor suppressor by
            repressing HDM2 function
REFERENCE   7  (residues 1 to 492)
  AUTHORS   Ding Y, Wang L, Su LK, Frey JA, Shao R, Hunt KK and Yan DH.
  TITLE     Antitumor activity of IFIX, a novel interferon-inducible HIN-200
            gene, in breast cancer
  JOURNAL   Oncogene 23 (26), 4556-4566 (2004)
   PUBMED   15122330
  REMARK    GeneRIF: a new member of the hematopoietic interferon
            (IFN)-inducible nuclear protein. Six different alternatively
            spliced forms are transcribed from the IFIX gene
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB188734.1, AY185344.1,
            BC073133.1 and AW518129.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 7, 2003 this sequence version replaced NP_689714.1.
            
            Summary: The protein encoded by this gene belongs to the HIN-200
            family of interferon-inducible proteins that share a 200-amino acid
            signature motif at their C-termini. HIN200 proteins are primarily
            nuclear and are involved in transcriptional regulation of genes
            important for cell cycle control, differentiation, and apoptosis.
            Downregulation of this gene is associated with breast cancer. This
            protein acts as a tumor suppressor by promoting ubiquitination and
            subsequent degradation of MDM2, which leads to stabilization of
            p53/TP53. Alternatively spliced transcript variants encoding
            different isoforms have been described for this gene. [provided by
            RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (alpha 1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY185344.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368140.6/ ENSP00000357122.1
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..492
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     Protein         1..492
                     /product="pyrin and HIN domain-containing protein 1
                     isoform alpha 1"
                     /note="interferon-inducible protein X; pyrin and HIN
                     domain-containing protein 1"
                     /calculated_mol_wt=54934
     Region          10..83
                     /region_name="Pyrin"
                     /note="a protein-protein interaction domain; cd08305"
                     /db_xref="CDD:260019"
     Region          106..199
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6K0P9.1)"
     Region          212..379
                     /region_name="HIN"
                     /note="HIN-200/IF120x domain; pfam02760"
                     /db_xref="CDD:426966"
     Region          400..492
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6K0P9.1)"
     CDS             1..492
                     /gene="PYHIN1"
                     /gene_synonym="IFIX"
                     /coded_by="NM_152501.5:246..1724"
                     /note="isoform alpha 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1178.1"
                     /db_xref="GeneID:149628"
                     /db_xref="HGNC:HGNC:28894"
                     /db_xref="MIM:612677"
ORIGIN      
        1 mannykkivl lkglevindy hfrivkslls ndlklnpkmk eeydkiqiad lmeekfpgda
       61 glgklieffk eiptlgdlae tlkreklkva nkiesipvkg iipskktkqk evypatpact
      121 psnrltakga eetlgpqkrk kpseeetgtk rskmskeqtr pscsagasts tamgrspppq
      181 tsssappnts steslkplan rhatasknif redpiiamvl natkvfkyes seneqrrmfh
      241 atvatqtqff hvkvlninlk rkfikkriii isnyskrnsl levneassvs eagpdqtfev
      301 pkdiirrakk ipkinilhkq tsgyivyglf mlhtkivnrk ttiyeiqdkt gsmavvgkge
      361 chnipcekgd klrlfcfrlr krenmsklms emhsfiqiqk ntnqrshdsr smalpqeqsq
      421 hpkpseastt lpeshlktpq mppttpssss ftkkdethpg aqsspanfri tsptvappls
      481 sdtstnrhpa vp
//
LOCUS       NP_001095856             354 aa            linear   PRI 25-DEC-2022
DEFINITION  guanine nucleotide-binding protein G(t) subunit alpha-3 [Homo
            sapiens].
ACCESSION   NP_001095856 XP_294370
VERSION     NP_001095856.1
DBSOURCE    REFSEQ: accession NM_001102386.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 354)
  AUTHORS   Wooding SP and Ramirez VA.
  TITLE     Worldwide diversity, association potential, and natural selection
            in the superimposed taste genes, CD36 and GNAT3
  JOURNAL   Chem Senses 47 (2022)
   PUBMED   34972209
  REMARK    GeneRIF: Worldwide diversity, association potential, and natural
            selection in the superimposed taste genes, CD36 and GNAT3.
REFERENCE   2  (residues 1 to 354)
  AUTHORS   Le Gleau L, Rouault C, Osinski C, Prifti E, Soula HA, Debedat J,
            Busieau P, Amouyal C, Clement K, Andreelli F, Ribeiro A and
            Serradas P.
  TITLE     Intestinal alteration of alpha-gustducin and sweet taste signaling
            pathway in metabolic diseases is partly rescued after weight loss
            and diabetes remission
  JOURNAL   Am J Physiol Endocrinol Metab 321 (3), E417-E432 (2021)
   PUBMED   34338041
  REMARK    GeneRIF: Intestinal alteration of alpha-gustducin and sweet taste
            signaling pathway in metabolic diseases is partly rescued after
            weight loss and diabetes remission.
REFERENCE   3  (residues 1 to 354)
  AUTHORS   Esberg A, Haworth S, Hasslof P, Lif Holgerson P and Johansson I.
  TITLE     Oral Microbiota Profile Associates with Sugar Intake and Taste
            Preference Genes
  JOURNAL   Nutrients 12 (3), 681 (2020)
   PUBMED   32138214
  REMARK    GeneRIF: Oral Microbiota Profile Associates with Sugar Intake and
            Taste Preference Genes.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 354)
  AUTHORS   Tizzano M, Grigereit L, Shultz N, Clary MS and Finger TE.
  TITLE     Immunohistochemical Analysis of Human Vallate Taste Buds
  JOURNAL   Chem Senses 40 (9), 655-660 (2015)
   PUBMED   26400924
REFERENCE   5  (residues 1 to 354)
  AUTHORS   Shoji N, Kaneta N, Satoh-Kuriwada S, Tsuchiya M, Hashimoto N,
            Uneyama H, Kawai M and Sasano T.
  TITLE     Expression of umami-taste-related genes in the tongue: a pilot
            study for genetic taste diagnosis
  JOURNAL   Oral Dis 21 (6), 801-806 (2015)
   PUBMED   25990784
REFERENCE   6  (residues 1 to 354)
  AUTHORS   Li X, Staszewski L, Xu H, Durick K, Zoller M and Adler E.
  TITLE     Human receptors for sweet and umami taste
  JOURNAL   Proc Natl Acad Sci U S A 99 (7), 4692-4696 (2002)
   PUBMED   11917125
REFERENCE   7  (residues 1 to 354)
  AUTHORS   Caricasole A, Sala C, Roncarati R, Formenti E and Terstappen GC.
  TITLE     Cloning and characterization of the human phosphoinositide-specific
            phospholipase C-beta 1 (PLC beta 1)
  JOURNAL   Biochim Biophys Acta 1517 (1), 63-72 (2000)
   PUBMED   11118617
REFERENCE   8  (residues 1 to 354)
  AUTHORS   Wall MA, Coleman DE, Lee E, Iniguez-Lluhi JA, Posner BA, Gilman AG
            and Sprang SR.
  TITLE     The structure of the G protein heterotrimer Gi alpha 1 beta 1 gamma
            2
  JOURNAL   Cell 83 (6), 1047-1058 (1995)
   PUBMED   8521505
REFERENCE   9  (residues 1 to 354)
  AUTHORS   Lambright DG, Noel JP, Hamm HE and Sigler PB.
  TITLE     Structural determinants for activation of the alpha-subunit of a
            heterotrimeric G protein
  JOURNAL   Nature 369 (6482), 621-628 (1994)
   PUBMED   8208289
REFERENCE   10 (residues 1 to 354)
  AUTHORS   Takami S, Getchell TV, McLaughlin SK, Margolskee RF and Getchell
            ML.
  TITLE     Human taste cells express the G protein alpha-gustducin and
            neuron-specific enolase
  JOURNAL   Brain Res Mol Brain Res 22 (1-4), 193-203 (1994)
   PUBMED   8015379
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073182.4, BC147016.1 and
            AC004862.1.
            On Aug 21, 2007 this sequence version replaced XP_294370.5.
            
            Summary: Sweet, bitter, and umami tastes are transmitted from taste
            receptors by a specific guanine nucleotide binding protein. The
            protein encoded by this gene is the alpha subunit of this
            heterotrimeric G protein, which is found not only in the oral
            epithelium but also in gut tissues. Variations in this gene have
            been linked to metabolic syndrome. [provided by RefSeq, Dec 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC147016.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144835, SAMEA2153733
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000398291.4/ ENSP00000381339.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.11"
     Protein         1..354
                     /product="guanine nucleotide-binding protein G(t) subunit
                     alpha-3"
                     /EC_number="2.3.1.4"
                     /note="gustducin alpha-3 chain; gustducin, alpha
                     polypeptide; gustatory G protein; guanine nucleotide
                     binding protein, alpha transducing 3; heterotrimeric
                     guanine nucleotide-binding protein 1E"
                     /calculated_mol_wt=40226
     Region          1..27
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MTJ3.2)"
     Region          34..348
                     /region_name="G-alpha"
                     /note="Alpha subunit of G proteins (guanine nucleotide
                     binding); cd00066"
                     /db_xref="CDD:206639"
     Region          35..48
                     /region_name="G1 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01230"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MTJ3.2)"
     Site            order(40,45..47,181,200,203,269..270,272,325..326)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206639"
     Site            40..47
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206639"
     Site            order(41..43,71,75,79,82,85..86,104,107,149,178,203,211,
                     215)
                     /site_type="active"
                     /note="GoLoco binding site [active]"
                     /db_xref="CDD:206639"
     Region          173..181
                     /region_name="G2 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01230"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MTJ3.2)"
     Site            176..184
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206639"
     Site            181
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206639"
     Site            order(182,184,186,197,199,203..205,207,210..211,213..216)
                     /site_type="other"
                     /note="beta - gamma complex interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:206639"
     Site            order(184,209,212..213,216)
                     /site_type="other"
                     /note="adenylyl cyclase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:206639"
     Region          196..205
                     /region_name="G3 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01230"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MTJ3.2)"
     Site            200..203
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206639"
     Site            201..217
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206639"
     Region          265..272
                     /region_name="G4 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01230"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MTJ3.2)"
     Site            269..272
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206639"
     Site            order(317..328,330..333)
                     /site_type="active"
                     /note="putative receptor binding site [active]"
                     /db_xref="CDD:206639"
     Region          324..329
                     /region_name="G5 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01230"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MTJ3.2)"
     Site            325..327
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206639"
     CDS             1..354
                     /gene="GNAT3"
                     /gene_synonym="GDCA; HG1E"
                     /coded_by="NM_001102386.3:139..1203"
                     /db_xref="CCDS:CCDS47625.1"
                     /db_xref="GeneID:346562"
                     /db_xref="HGNC:HGNC:22800"
                     /db_xref="MIM:139395"
ORIGIN      
        1 mgsgissesk esakrskele kklqedaerd artvkllllg agesgkstiv kqmkiihkng
       61 yseqecmefk aviysntlqs ilaivkamtt lgidyvnprs aedqrqlyam antledggmt
      121 pqlaevikrl wrdpgiqacf eraseyqlnd saayylndld ritasgyvpn eqdvlhsrvk
      181 ttgiietqfs fkdlhfrmfd vggqrserkk wihcfegvtc iifcaalsay dmvlvedeev
      241 nrmheslhlf nsicnhkyfs ttsivlflnk kdifqekvtk vhlsicfpey tgpntfedag
      301 nyiknqfldl nlkkedkeiy shmtcatdtq nvkfvfdavt diiikenlkd cglf
//
LOCUS       NP_001338052             131 aa            linear   PRI 25-DEC-2022
DEFINITION  testis-expressed protein 49 isoform 1 [Homo sapiens].
ACCESSION   NP_001338052
VERSION     NP_001338052.1
DBSOURCE    REFSEQ: accession NM_001351123.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 131)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL,
            Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P,
            Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy
            SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH,
            Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW,
            Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J,
            Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M,
            Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW,
            Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J,
            Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U,
            Smailus DE, Schnerch A, Schein JE, Jones SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC079951.35 and BC036043.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK131005.1, BC036043.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000548380.6/ ENSP00000489652.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..131
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     Protein         1..131
                     /product="testis-expressed protein 49 isoform 1"
                     /note="long intergenic non-protein coding RNA 935;
                     testis-expressed protein 49"
                     /calculated_mol_wt=15500
     Region          18..44
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot
                     (A0A1B0GTD5.1)"
     CDS             1..131
                     /gene="TEX49"
                     /gene_synonym="LINC00935"
                     /coded_by="NM_001351123.2:47..442"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS86296.1"
                     /db_xref="GeneID:255411"
                     /db_xref="HGNC:HGNC:48628"
ORIGIN      
        1 maffnlyllg yqnsfqnkkr ntteetnqke peptrlppii skdgnysvhq nshtryheav
       61 rkvllktfpn qvfripltda qnfsfwwshd pgvrpeetmp wirsprhcli ksamtrfmdh
      121 silndrtfsl y
//
LOCUS       NP_001335691             574 aa            linear   PRI 28-DEC-2022
DEFINITION  uncharacterized protein C2orf42 [Homo sapiens].
ACCESSION   NP_001335691 XP_011531239
VERSION     NP_001335691.1
DBSOURCE    REFSEQ: accession NM_001348762.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 574)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 574)
  AUTHORS   Navarini AA, Simpson MA, Weale M, Knight J, Carlavan I, Reiniche P,
            Burden DA, Layton A, Bataille V, Allen M, Pleass R, Pink A, Creamer
            D, English J, Munn S, Walton S, Willis C, Deret S, Voegel JJ,
            Spector T, Smith CH, Trembath RC and Barker JN.
  CONSRTM   Acne Genetic Study Group
  TITLE     Genome-wide association study identifies three novel susceptibility
            loci for severe Acne vulgaris
  JOURNAL   Nat Commun 5, 4020 (2014)
   PUBMED   24927181
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 574)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA
            and Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   4  (residues 1 to 574)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC016700.8.
            On Feb 15, 2017 this sequence version replaced XP_011531239.1.
            
            Transcript Variant: This variant (6) differs in the 5' UTR compared
            to variant 1. Variants 1-8 all encode the same protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.1554.1,
                                           SRR3476690.625567.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..574
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     Protein         1..574
                     /product="uncharacterized protein C2orf42"
                     /calculated_mol_wt=63946
     Region          16..57
                     /region_name="zf-tcix"
                     /note="Putative treble-clef, zinc-finger, Zn-binding;
                     pfam14952"
                     /db_xref="CDD:434342"
     CDS             1..574
                     /gene="C2orf42"
                     /coded_by="NM_001348762.2:342..2066"
                     /db_xref="CCDS:CCDS1899.1"
                     /db_xref="GeneID:54980"
                     /db_xref="HGNC:HGNC:26056"
ORIGIN      
        1 mepnslrtkv paflsdlgka tlrgirkcpr cgtyngtrgl scknktcgti frygarkqps
       61 veavkiitgs dlqvysvrqr drgpdyrcfv elgvsettiq tvdgtiitql ssgrcyvpsc
      121 lkaatqgvve nqcqhiklav ncqaeatplt lkssvlnamq aspetkqtiw qlateptgpl
      181 vqritknilv vkckasqkhs lgylhtsfvq kvsgkslper rffcscqtlk shksnaskde
      241 taqrcihffa cicafasdet laqefsdfln fdssglkeii vpqlgchses tvsacestas
      301 kskkrrkdev sgaqmnssll pqdavssnlr ksglkkpvva sslkrqacgq lldeaqvtls
      361 fqdwlasvte rihqtmhyqf dgkpeplvfh ipqsffdalq qrisigsakk rlpnsttafv
      421 rkdalplgtf skytwhitni lqvkqildtp empleitrsf iqnrdgtyel fkcpkveves
      481 iaetygriek qpvlrplelk tflkvgntsp dqkeptpfii ewipdilpqs kigelrikfe
      541 yghhrnghva eyqdqrppld qplelapltt itfp
//
LOCUS       NP_001371750            2228 aa            linear   PRI 29-DEC-2022
DEFINITION  protein PRRC2B isoform 2 [Homo sapiens].
ACCESSION   NP_001371750
VERSION     NP_001371750.1
DBSOURCE    REFSEQ: accession NM_001384821.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2228)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 2228)
  AUTHORS   Zhang XO, Dong R, Zhang Y, Zhang JL, Luo Z, Zhang J, Chen LL and
            Yang L.
  TITLE     Diverse alternative back-splicing and alternative splicing
            landscape of circular RNAs
  JOURNAL   Genome Res 26 (9), 1277-1287 (2016)
   PUBMED   27365365
REFERENCE   3  (residues 1 to 2228)
  AUTHORS   Lambert B, Vandeputte J, Remacle S, Bergiers I, Simonis N, Twizere
            JC, Vidal M and Rezsohazy R.
  TITLE     Protein interactions of the transcription factor Hoxa1
  JOURNAL   BMC Dev Biol 12, 29 (2012)
   PUBMED   23088713
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 2228)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   5  (residues 1 to 2228)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   6  (residues 1 to 2228)
  AUTHORS   Vasilescu J, Zweitzig DR, Denis NJ, Smith JC, Ethier M, Haines DS
            and Figeys D.
  TITLE     The proteomic reactor facilitates the analysis of affinity-purified
            proteins by mass spectrometry: application for identifying
            ubiquitinated proteins in human cells
  JOURNAL   J Proteome Res 6 (1), 298-305 (2007)
   PUBMED   17203973
REFERENCE   7  (residues 1 to 2228)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   8  (residues 1 to 2228)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   9  (residues 1 to 2228)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL354855.26 and AL358781.19.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1084143.1,
                                           SRR18074969.3147352.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2228
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13"
     Protein         1..2228
                     /product="protein PRRC2B isoform 2"
                     /note="protein BAT2-like 1; protein PRRC2B;
                     HLA-B-associated transcript 2-like 1; proline-rich
                     coiled-coil protein 2B; HLA-B associated transcript
                     2-like"
                     /calculated_mol_wt=242708
     Region          1..189
                     /region_name="BAT2_N"
                     /note="BAT2 N-terminus; pfam07001"
                     /db_xref="CDD:429240"
     Region          49..269
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            166
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            168
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            222
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7TPM1; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            226
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            228
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Region          385..640
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            388
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18318008, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            416
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            480
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            556
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            613
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            736
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            740
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            745
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            765
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            776
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Region          830..1045
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Region          1107..1528
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            1132
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            1231
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            1470
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            1507
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Region          1576..1599
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            1753
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Region          1789..1808
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Site            1842
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Region          1860..1889
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Region          1869..>2178
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     Region          2085..2125
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     Region          2137..2228
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JSZ5.2)"
     CDS             1..2228
                     /gene="PRRC2B"
                     /gene_synonym="BAT2L; BAT2L1; KIAA0515; LQFBS-1"
                     /coded_by="NM_001384821.1:230..6916"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="GeneID:84726"
                     /db_xref="HGNC:HGNC:28121"
                     /db_xref="MIM:619544"
ORIGIN      
        1 msdrlgqitk gkdgkskyst lslfdkykgk svdairssvi prhglqslgk vaaarrmppp
       61 anlpslksen kgndpniviv pkdgtgwank qdqqdpksss atasqppesl pqpglqksvs
      121 nlqkptqsis qentnsvpgg pkswaqlngk pvghegglrg ssrllsfspe efptlkaagg
      181 qdkagkekgv ldlsygpgps lrpqnvtswr egggrhiisa tslstsptel gsrnsstgdg
      241 apssactsds kdpslrpaqp vrkgasqfmg nvyhpptyhd mlpafmcspk ssenqgtver
      301 gsfplpqlrl eprvpfrqfq mndqdgkenr lglsrplrpl rqlveraprp tiinaenlkg
      361 lddldadadd gwaglheevd yseklkfsdd eeeeevvkdg rpkwnswdpr rqrqlsmssa
      421 dsadakrtre egkdwaeavg asrvvrkapd pqppprklhg wapgpdyqks smgsmfrqqs
      481 iedkedkppp rqkfiqsems eaverarkrr eeeerraree rlaacaaklk qldqkckqar
      541 kagearkqae kevpwspsae kaspqengpa vhkgspefpa qetpttfpee aptvspavaq
      601 snsseeeare agspaqefky qkslpprfqr qqqqqqqeql ykmqhwqpvy pppshpqrtf
      661 yphhpqmlgf dprwmmmpsy mdpritptrt pvdfypsalh psglmkpmmp qeslngtgcr
      721 sedqncvppl qerkvtpids ppvwspegym alqskgyplp hpkssdtlam dmrvrnessf
      781 saslgraggv saqrdlfeer geeylsafdk kaqadfdsci ssqrigqell fppqenvqda
      841 gapgghtqnl rcsplepdfv pdekkpecgs wdvshqpeta dtahgveret pregtafnis
      901 swdkngspnk qpssepewtp eprssssqhp eqtgrtrrsg pikkpvlkal kvedkekele
      961 kikqelgees trlakekeqs ptaekdedee ndaslansst ttledkgpgh atfgreatkf
     1021 eeeekpdkaw earppressd vppmkrnnwi fideeqafgv rgqargrgrg freftfrgrp
     1081 aggngsglcg ggvlgarsiy cssqrsgrgr glrefarped cprakprrrv asethsegse
     1141 yeelpkrrrq rgsengnegs llereestlk kgdcrdswrs nkgcsedhsg ldaksrgpra
     1201 fgralpprls ncgygrrtfv skesphwqsk spgsswqeyg psdtcgsrrp tdrdyvpdsy
     1261 rhpdafggrg fedsraedkr sffqdehvad senaenrpfr rrrpprqdkp prfrrlrqer
     1321 eslglwgpee ephllagqwp grpklcsgdk sgtvgrrspe lsyqnssdha neewetases
     1381 sdfserrerr egpgsepdsq vdgglsgasl gekkelakrs fssqrpvvdr qsrklepggf
     1441 gekpvrpggg dtspryesqq ngtplkvkrs pdealpggls gcssgsghsp yaleraahas
     1501 adlpeasskk aekeaklaap rageqgeamk qfdlnygsai iencgsspge esevgsmvge
     1561 gfievltkkq rrlleeerrk keqavqvpvk grglssripp rfakkqnnlc leqgdvtvpg
     1621 sslgteiwes ssqalpvqap andswrkavt afsstetgsa egfkssqgds gvdlsaesre
     1681 ssatssqrss pygtlkpeem sgpglaepka dshkeqapkp seqkdseqgs gqskehrpgp
     1741 ignerslknr kgsegaerlq gavvppvngv eihvdsvlpv ppiefgvspk dsdfslppgs
     1801 asgptgspvv klqdalasna gltqsipilr rdhhiqraig lspmsfptad ltlkmesark
     1861 awenspslpe qsspggagsg iqppssvgas sgvnyssfgg vsmppmpvas vapsasmpgs
     1921 hlpplyldgh vfasqprlvp qtipqqqsyq qaaaaqqipi slhtslqaqa qlglrgglpv
     1981 sqsqeifssl qpfrsqvymh pslsppstmi lsggtalkpp ysafpgmqpl emvkpqsgsp
     2041 yqpmsgnqal vyegqlsqaa glgasqmlds qlpqltmplp rygsgqqpli lpqsiqlppg
     2101 qslsvgaprr ipppgsqppv lntsrepsqm emkgfhfads kqnvpsggpv pspqtyrpss
     2161 aspsgkpsgs avnmgsvqgh yvqqakqrvd ekpslgavkl qeapsaasqm krtgaikpra
     2221 vkveeska
//
LOCUS       NP_001243874             189 aa            linear   PRI 29-DEC-2022
DEFINITION  Fanconi anemia core complex-associated protein 20 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001243874
VERSION     NP_001243874.2
DBSOURCE    REFSEQ: accession NM_001256945.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 189)
  AUTHORS   Nagareddy B, Khan A and Kim H.
  TITLE     Acetylation modulates the Fanconi anemia pathway by protecting
            FAAP20 from ubiquitin-mediated proteasomal degradation
  JOURNAL   J Biol Chem 295 (40), 13887-13901 (2020)
   PUBMED   32763975
  REMARK    GeneRIF: Acetylation modulates the Fanconi anemia pathway by
            protecting FAAP20 from ubiquitin-mediated proteasomal degradation.
REFERENCE   2  (residues 1 to 189)
  AUTHORS   Wang J, Jo U, Joo SY and Kim H.
  TITLE     FBW7 regulates DNA interstrand cross-link repair by modulating
            FAAP20 degradation
  JOURNAL   Oncotarget 7 (24), 35724-35740 (2016)
   PUBMED   27232758
  REMARK    GeneRIF: Study identify SCF-FBW7 as a ubiquitin E3 ligase that
            regulates the cellular FAAP20 levels and Fanconi anemia (FA)
            pathway. Deregulation of the GSK3beta- and FBW7-dependent FAAP20
            degradation leads to a defect in the FA pathway, establishing a
            direct link between FBW7 and DNA repair.
REFERENCE   3  (residues 1 to 189)
  AUTHORS   Lim K, Lee MK, Duong PT, Liu D, Sung S and Choi BS.
  TITLE     Biophysical characterization of the interaction between FAAP20-UBZ4
            domain and Rev1-BRCT domain
  JOURNAL   FEBS Lett 589 (20 Pt B), 3037-3043 (2015)
   PUBMED   26318859
  REMARK    GeneRIF: Data suggest Rev1 protein recognition mechanism by Fanconi
            anemia-associated protein 20 (FAAP20).
REFERENCE   4  (residues 1 to 189)
  AUTHORS   Wojtaszek JL, Wang S, Kim H, Wu Q, D'Andrea AD and Zhou P.
  TITLE     Ubiquitin recognition by FAAP20 expands the complex interface
            beyond the canonical UBZ domain
  JOURNAL   Nucleic Acids Res 42 (22), 13997-14005 (2014)
   PUBMED   25414354
  REMARK    GeneRIF: FAAP20-ubiquitin interaction expands beyond the compact
            UBZ domain and requires the folding and interaction of the
            otherwise disordered C-terminal tail of FAAP20 for high-affinity
            binding.
REFERENCE   5  (residues 1 to 189)
  AUTHORS   Huang Y, Leung JW, Lowery M, Matsushita N, Wang Y, Shen X, Huong D,
            Takata M, Chen J and Li L.
  TITLE     Modularized functions of the Fanconi anemia core complex
  JOURNAL   Cell Rep 7 (6), 1849-1857 (2014)
   PUBMED   24910428
  REMARK    Erratum:[Cell Rep. 2016 Mar 22;14(11):2761-3]
REFERENCE   6  (residues 1 to 189)
  AUTHORS   Ali AM, Pradhan A, Singh TR, Du C, Li J, Wahengbam K, Grassman E,
            Auerbach AD, Pang Q and Meetei AR.
  TITLE     FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein
            required for functional integrity of the FA-BRCA DNA repair pathway
  JOURNAL   Blood 119 (14), 3285-3294 (2012)
   PUBMED   22343915
  REMARK    GeneRIF: FAAP20 contains a conserved ubiquitin-binding zinc-finger
            domain and binds K-63-linked ubiquitin chains in vitro. The
            FAAP20-UBZ domain is not required for interaction with FANCA, but
            is required for DNA-damage-induced chromatin loading of FANCA and
            the functional integrity of the Fanconi anemia pathway.
REFERENCE   7  (residues 1 to 189)
  AUTHORS   Leung JW, Wang Y, Fong KW, Huen MS, Li L and Chen J.
  TITLE     Fanconi anemia (FA) binding protein FAAP20 stabilizes FA
            complementation group A (FANCA) and participates in interstrand
            cross-link repair
  JOURNAL   Proc Natl Acad Sci U S A 109 (12), 4491-4496 (2012)
   PUBMED   22396592
  REMARK    GeneRIF: FAAP20 is an important player involved in the Fanconi
            anemia pathway
REFERENCE   8  (residues 1 to 189)
  AUTHORS   Kim H, Yang K, Dejsuphong D and D'Andrea AD.
  TITLE     Regulation of Rev1 by the Fanconi anemia core complex
  JOURNAL   Nat Struct Mol Biol 19 (2), 164-170 (2012)
   PUBMED   22266823
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 189)
  AUTHORS   Knipscheer P, Raschle M, Smogorzewska A, Enoiu M, Ho TV, Scharer
            OD, Elledge SJ and Walter JC.
  TITLE     The Fanconi anemia pathway promotes replication-dependent DNA
            interstrand cross-link repair
  JOURNAL   Science 326 (5960), 1698-1701 (2009)
   PUBMED   19965384
REFERENCE   10 (residues 1 to 189)
  AUTHORS   Kutsenko AS, Gizatullin RZ, Al-Amin AN, Wang F, Kvasha SM, Podowski
            RM, Matushkin YG, Gyanchandani A, Muravenko OV, Levitsky VG,
            Kolchanov NA, Protopopov AI, Kashuba VI, Kisselev LL, Wasserman W,
            Wahlestedt C and Zabarovsky ER.
  TITLE     NotI flanking sequences: a tool for gene discovery and verification
            of the human genome
  JOURNAL   Nucleic Acids Res 30 (14), 3163-3170 (2002)
   PUBMED   12136098
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590822.37.
            On May 21, 2020 this sequence version replaced NP_001243874.1.
            
            Transcript Variant: This variant (3) lacks an alternate exon that
            results in a frameshift in the 5' and subsequent coding region, and
            it uses an alternate 3' exon and thus differs in the 3' UTR,
            compared to variant 2. The encoded isoform (3) has a distinct
            C-terminus and is longer than isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.928663.1,
                                           SRR14038194.1431003.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..189
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     Protein         1..189
                     /product="Fanconi anemia core complex-associated protein
                     20 isoform 3"
                     /note="Fanconi anemia-associated protein of 20 kDa;
                     Fanconi anemia core complex associated protein 20;
                     FANCA-associated protein of 20 kDa"
                     /calculated_mol_wt=20419
     Region          <1..>135
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     CDS             1..189
                     /gene="FAAP20"
                     /gene_synonym="C1orf86; FP7162"
                     /coded_by="NM_001256945.2:24..593"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS72686.1"
                     /db_xref="GeneID:199990"
                     /db_xref="HGNC:HGNC:26428"
                     /db_xref="MIM:615183"
ORIGIN      
        1 meaarrprlg lsrrrprpag gspgaarspl ksslsdprpf pghpfrrtcg aravptgcft
       61 gqegtwnppp gpcpsarhli pagppgwsss rlwrvprpca aapcarrssp pgtstpaptc
      121 vplapklppy vwvasemwgr rhsrkkgirg astssehfip qdatrslswr srsvhrvlfp
      181 wkmctleta
//
LOCUS       NP_001273674             192 aa            linear   PRI 30-DEC-2022
DEFINITION  deubiquitinase OTUD6B isoform 2 [Homo sapiens].
ACCESSION   NP_001273674 XP_005251027
VERSION     NP_001273674.1
DBSOURCE    REFSEQ: accession NM_001286745.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 192)
  AUTHORS   Paulmann C, Spallek R, Karpiuk O, Heider M, Schaffer I, Zecha J,
            Klaeger S, Walzik M, Ollinger R, Engleitner T, Wirth M, Keller U,
            Kronke J, Rudelius M, Kossatz S, Rad R, Kuster B and Bassermann F.
  TITLE     The OTUD6B-LIN28B-MYC axis determines the proliferative state in
            multiple myeloma
  JOURNAL   EMBO J 41 (20), e110871 (2022)
   PUBMED   36059274
  REMARK    GeneRIF: The OTUD6B-LIN28B-MYC axis determines the proliferative
            state in multiple myeloma.
REFERENCE   2  (residues 1 to 192)
  AUTHORS   Cingoz S, Soydemir D, Oner TO, Karaca E, Ozden B, Kurul SH, Bayram
            E, Coe BP, Nickerson DA and Eichler EE.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     Novel biallelic variants affecting the OTU domain of the gene
            OTUD6B associate with severe intellectual disability syndrome and
            molecular dynamics simulations
  JOURNAL   Eur J Med Genet 65 (6), 104497 (2022)
   PUBMED   35430327
  REMARK    GeneRIF: Novel biallelic variants affecting the OTU domain of the
            gene OTUD6B associate with severe intellectual disability syndrome
            and molecular dynamics simulations.
REFERENCE   3  (residues 1 to 192)
  AUTHORS   Guo K, Wei Y, Wang Z, Zhang X, Zhang X, Liu X, Wu W, Wu Z, Zhang L
            and Cui CP.
  TITLE     Deubiquitylase OTUD6B stabilizes the mutated pVHL and suppresses
            cell migration in clear cell renal cell carcinoma
  JOURNAL   Cell Death Dis 13 (2), 97 (2022)
   PUBMED   35110537
  REMARK    GeneRIF: Deubiquitylase OTUD6B stabilizes the mutated pVHL and
            suppresses cell migration in clear cell renal cell carcinoma.
            Erratum:[Cell Death Dis. 2022 Jun 1;13(6):515. PMID: 35650190]
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 192)
  AUTHORS   Abdel-Salam GMH, Abdel-Hamid MS, Sayed ISM, Zechner U and Bolz HJ.
  TITLE     OTUD6B-associated intellectual disability: novel variants and
            genetic exclusion of retinal degeneration as part of a refined
            phenotype
  JOURNAL   J Hum Genet 67 (1), 55-64 (2022)
   PUBMED   34354232
  REMARK    GeneRIF: OTUD6B-associated intellectual disability: novel variants
            and genetic exclusion of retinal degeneration as part of a refined
            phenotype.
REFERENCE   5  (residues 1 to 192)
  AUTHORS   Phetthong T, Khongkrapan A, Jinawath N, Seo GH and
            Wattanasirichaigoon D.
  TITLE     Compound Heterozygote of Point Mutation and Chromosomal
            Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in
            Syndromic Intellectual Disability
  JOURNAL   Genes (Basel) 12 (10), 1583 (2021)
   PUBMED   34680978
  REMARK    GeneRIF: Compound Heterozygote of Point Mutation and Chromosomal
            Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in
            Syndromic Intellectual Disability.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 192)
  AUTHORS   Takata M, Pachera E, Frank-Bertoncelj M, Kozlova A, Jungel A,
            Whitfield ML, Assassi S, Calcagni M, de Vries-Bouwstra J, Huizinga
            TW, Kurreeman F, Kania G and Distler O.
  TITLE     OTUD6B-AS1 Might Be a Novel Regulator of Apoptosis in Systemic
            Sclerosis
  JOURNAL   Front Immunol 10, 1100 (2019)
   PUBMED   31156645
  REMARK    GeneRIF: OTUD6B-AS1 Might Be a Novel Regulator of Apoptosis in
            Systemic Sclerosis.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 192)
  AUTHORS   Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W,
            Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogne B, Kury S,
            Besnard T, Isidor B, Bezieau S, Hazart I, Nagakura H, Immken LL,
            Littlejohn RO, Roeder E, Kara B, Hardies K, Weckhuysen S, May P,
            Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY,
            Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells
            S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD and
            Walkiewicz MA.
  CONSRTM   EuroEPINOMICS RES Consortium Autosomal Recessive working group, S.
            Hande Caglayan
  TITLE     Biallelic Variants in OTUD6B Cause an Intellectual Disability
            Syndrome Associated with Seizures and Dysmorphic Features
  JOURNAL   Am J Hum Genet 100 (4), 676-688 (2017)
   PUBMED   28343629
  REMARK    GeneRIF: OTUD6B encodes a deubiquitinating enzyme; study reports
            biallelic pathogenic variants in OTUD6B in 12 individuals from 6
            families with intellectual disability syndrome associated with
            seizures & dysmorphic features; other features include
            developmental delay, microcephaly, absent speech, hypotonia, growth
            retardation, feeding difficulties, structural brain abnormalities,
            malformations of heart & musculoskeleton.
REFERENCE   8  (residues 1 to 192)
  AUTHORS   Sobol A, Askonas C, Alani S, Weber MJ, Ananthanarayanan V, Osipo C
            and Bocchetta M.
  TITLE     Deubiquitinase OTUD6B Isoforms Are Important Regulators of Growth
            and Proliferation
  JOURNAL   Mol Cancer Res 15 (2), 117-127 (2017)
   PUBMED   27864334
  REMARK    GeneRIF: The global OTUD6B expression level does not change
            significantly between nonneoplastic and malignant tissues,
            suggesting that modifications of splicing factors during the
            process of transformation are responsible for this isoform switch.
REFERENCE   9  (residues 1 to 192)
  AUTHORS   Xu Z, Zheng Y, Zhu Y, Kong X and Hu L.
  TITLE     Evidence for OTUD-6B participation in B lymphocytes cell cycle
            after cytokine stimulation
  JOURNAL   PLoS One 6 (1), e14514 (2011)
   PUBMED   21267069
  REMARK    GeneRIF: down-regulation of Otud-6b expression after prolonged
            cytokine stimulation may be required for cell proliferation in B
            lymphocytes
            Publication Status: Online-Only
REFERENCE   10 (residues 1 to 192)
  AUTHORS   Sowa ME, Bennett EJ, Gygi SP and Harper JW.
  TITLE     Defining the human deubiquitinating enzyme interaction landscape
  JOURNAL   Cell 138 (2), 389-403 (2009)
   PUBMED   19615732
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087439.6, AK293843.1 and BQ000463.1.
            On Nov 15, 2013 this sequence version replaced XP_005251027.1.
            
            Summary: This gene encodes a member of the ovarian tumor domain
            (OTU)-containing subfamily of deubiquitinating enzymes.
            Deubiquitinating enzymes are primarily involved in removing
            ubiquitin from proteins targeted for degradation. This protein may
            function as a negative regulator of the cell cycle in B cells.
            [provided by RefSeq, Nov 2013].
            
            Transcript Variant: This variant (2) contains an alternate exon in
            the 5' UTR, lacks a portion of the 5' coding region, and initiates
            translation at an alternate start codon, compared to variant 1. The
            encoded isoform (2) has a distinct N-terminus and is shorter than
            isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.41828.1,
                                           SRR18074969.639792.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..192
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.3"
     Protein         1..192
                     /product="deubiquitinase OTUD6B isoform 2"
                     /EC_number="3.4.19.12"
                     /note="OTU domain-containing protein 6B; deubiquitinase
                     OTUD6B; OTU domain containing 6B"
                     /calculated_mol_wt=21678
     Region          37..181
                     /region_name="OTU_OTUD6"
                     /note="OTU (ovarian tumor) domain of OTU domain-containing
                     proteins 6A and 6B and similar proteins; cd22761"
                     /db_xref="CDD:438598"
     Site            order(57,114,117,124..127,151,153,166,175..177)
                     /site_type="other"
                     /note="putative polypeptide substrate binding site
                     [polypeptide binding]"
                     /db_xref="CDD:438598"
     CDS             1..192
                     /gene="OTUD6B"
                     /gene_synonym="CGI-77; DUBA-5; DUBA5; IDDFSDA"
                     /coded_by="NM_001286745.3:485..1063"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS69513.1"
                     /db_xref="GeneID:51633"
                     /db_xref="HGNC:HGNC:24281"
                     /db_xref="MIM:612021"
ORIGIN      
        1 miskekkaal ekereeriae aeienltgar hmeseklaqi laarqleikq ipsdghcmyk
       61 aiedqlkekd caltvvalrs qtaeymqshv edflpfltnp ntgdmytpee fqkycedivn
      121 taawggqlel ralshilqtp ieiiqadspp iivgeeyskk plilvymrha yglgehynsv
      181 trlvnivten cs
//
LOCUS       NP_001376646             302 aa            linear   PRI 31-DEC-2022
DEFINITION  glycine N-acyltransferase-like protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001376646
VERSION     NP_001376646.1
DBSOURCE    REFSEQ: accession NM_001389717.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 302)
  AUTHORS   Eich ML, Chandrashekar DS, Rodriguez Pen A MDC, Robinson AD,
            Siddiqui J, Daignault-Newton S, Chakravarthi BVSK, Kunju LP, Netto
            GJ and Varambally S.
  TITLE     Characterization of glycine-N-acyltransferase like 1 (GLYATL1) in
            prostate cancer
  JOURNAL   Prostate 79 (14), 1629-1639 (2019)
   PUBMED   31376196
  REMARK    GeneRIF: study characterizes the expression of
            glycine-N-acyltransferase like 1(GLYATL1) in prostate cancer and
            explores its regulation in prostate cancer
REFERENCE   2  (residues 1 to 302)
  AUTHORS   Matsuo M, Terai K, Kameda N, Matsumoto A, Kurokawa Y, Funase Y,
            Nishikawa K, Sugaya N, Hiruta N and Kishimoto T.
  TITLE     Designation of enzyme activity of glycine-N-acyltransferase family
            genes and depression of glycine-N-acyltransferase in human
            hepatocellular carcinoma
  JOURNAL   Biochem Biophys Res Commun 420 (4), 901-906 (2012)
   PUBMED   22475485
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001652.4, AP001636.4 and KF459756.1.
            
            ##Evidence-Data-START##
            CDS exon combination :: BG427782.1, SRR5189664.90214.1
                                    [ECO:0000331]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..302
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     Protein         1..302
                     /product="glycine N-acyltransferase-like protein 1 isoform
                     2"
                     /EC_number="2.3.1.68"
                     /note="glycine N-acyltransferase-like protein 1;
                     acyl-CoA:glycine N-acyltransferase-like protein 1;
                     glutamine N-acyltransferase"
                     /calculated_mol_wt=34970
     Region          1..207
                     /region_name="Gly_acyl_tr_N"
                     /note="Aralkyl acyl-CoA:amino acid N-acyltransferase;
                     pfam06021"
                     /db_xref="CDD:428725"
     Region          208..296
                     /region_name="Gly_acyl_tr_C"
                     /note="Aralkyl acyl-CoA:amino acid N-acyltransferase,
                     C-terminal region; pfam08444"
                     /db_xref="CDD:117021"
     CDS             1..302
                     /gene="GLYATL1"
                     /gene_synonym="GATF-C; GNAT"
                     /coded_by="NM_001389717.2:599..1507"
                     /note="isoform 2 is encoded by transcript variant 12"
                     /db_xref="CCDS:CCDS55768.1"
                     /db_xref="GeneID:92292"
                     /db_xref="HGNC:HGNC:30519"
                     /db_xref="MIM:614761"
ORIGIN      
        1 millnnshkl lalykslars ipeslkvygs vyhinhgnpf nmevlvdswp eyqmviirpq
       61 kqemtddmds ytnvyrmfsk epqkseevlk nceivnwkqr lqiqglqesl gegirvatfs
      121 ksvkvehsra lllvtedilk lnassksklg swaetghpdd efesetpnfk yaqldvsysg
      181 lvndnwkrgk nerslhyikr ciedlpaacm lgpegvpvsw vtmdpscevg maysmekyrr
      241 tgnmarvmvr ymkylrqkni pfyisvleen edsrrfvgqf gffeascewh qwtcypqnlv
      301 pf
//
LOCUS       NP_001381906             219 aa            linear   PRI 31-DEC-2022
DEFINITION  nucleolar protein 3 isoform Nop30 [Homo sapiens].
ACCESSION   NP_001381906
VERSION     NP_001381906.1
DBSOURCE    REFSEQ: accession NM_001394977.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 219)
  AUTHORS   Roser C, Toth C, Renner M, Herpel E and Schirmacher P.
  TITLE     Expression of apoptosis repressor with caspase recruitment domain
            (ARC) in familial adenomatous polyposis (FAP) adenomas and its
            correlation with DNA mismatch repair proteins, p53, Bcl-2, COX-2
            and beta-catenin
  JOURNAL   Cell Commun Signal 19 (1), 15 (2021)
   PUBMED   33579312
  REMARK    GeneRIF: Expression of apoptosis repressor with caspase recruitment
            domain (ARC) in familial adenomatous polyposis (FAP) adenomas and
            its correlation with DNA mismatch repair proteins, p53, Bcl-2,
            COX-2 and beta-catenin.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 219)
  AUTHORS   Wang Q, Zhang T, Chang X, Lim DY, Wang K, Bai R, Wang T, Ryu J,
            Chen H, Yao K, Ma WY, Boardman LA, Bode AM and Dong Z.
  TITLE     ARC Is a Critical Protector against Inflammatory Bowel Disease
            (IBD) and IBD-Associated Colorectal Tumorigenesis
  JOURNAL   Cancer Res 80 (19), 4158-4171 (2020)
   PUBMED   32816906
  REMARK    GeneRIF: ARC Is a Critical Protector against Inflammatory Bowel
            Disease (IBD) and IBD-Associated Colorectal Tumorigenesis.
REFERENCE   3  (residues 1 to 219)
  AUTHORS   Liu M, Yu T, Li M, Fang X, Hou B, Liu G and Wang J.
  TITLE     Apoptosis repressor with caspase recruitment domain promotes cell
            proliferation and phenotypic modulation through 14-3-3epsilon/YAP
            signaling in vascular smooth muscle cells
  JOURNAL   J Mol Cell Cardiol 147, 35-48 (2020)
   PUBMED   32771410
  REMARK    GeneRIF: Apoptosis repressor with caspase recruitment domain
            promotes cell proliferation and phenotypic modulation through
            14-3-3epsilon/YAP signaling in vascular smooth muscle cells.
REFERENCE   4  (residues 1 to 219)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 219)
  AUTHORS   Nam YJ, Mani K, Ashton AW, Peng CF, Krishnamurthy B, Hayakawa Y,
            Lee P, Korsmeyer SJ and Kitsis RN.
  TITLE     Inhibition of both the extrinsic and intrinsic death pathways
            through nonhomotypic death-fold interactions
  JOURNAL   Mol Cell 15 (6), 901-912 (2004)
   PUBMED   15383280
  REMARK    GeneRIF: ARC is recruited to the Fas DISC. By interacting with Fas
            and FADD through CARD-DD and CARD-DED interactions, ARC prevents
            DISC assembly and procaspase-8 activation.
            GeneRIF: The CARD of ARC binds the Bax C-terminus, preventing Bax
            activation and activation of the intrinsic mitochondrial pathway
            GeneRIF: ARC holds multiple death pathways in check by
            non-homotypic death-fold interactions. Loss of ARC disinhibits
            these, leading to accelerated DISC assembly and Bax activation and
            may be an apoptotic trigger in heart failure and
            ischemia-reperfusion.
REFERENCE   6  (residues 1 to 219)
  AUTHORS   Gustafsson AB, Tsai JG, Logue SE, Crow MT and Gottlieb RA.
  TITLE     Apoptosis repressor with caspase recruitment domain protects
            against cell death by interfering with Bax activation
  JOURNAL   J Biol Chem 279 (20), 21233-21238 (2004)
   PUBMED   15004034
REFERENCE   7  (residues 1 to 219)
  AUTHORS   Ekhterae D, Platoshyn O, Zhang S, Remillard CV and Yuan JX.
  TITLE     Apoptosis repressor with caspase domain inhibits cardiomyocyte
            apoptosis by reducing K+ currents
  JOURNAL   Am J Physiol Cell Physiol 284 (6), C1405-C1410 (2003)
   PUBMED   12734105
  REMARK    GeneRIF: These results suggest that the antiapoptotic effect of
            apoptotic repressor with caspase recruitment domain is, in part,
            due to inhibition of voltage-gated potassium channels in
            cardiomyocytes.
REFERENCE   8  (residues 1 to 219)
  AUTHORS   Li PF, Li J, Muller EC, Otto A, Dietz R and von Harsdorf R.
  TITLE     Phosphorylation by protein kinase CK2: a signaling switch for the
            caspase-inhibiting protein ARC
  JOURNAL   Mol Cell 10 (2), 247-258 (2002)
   PUBMED   12191471
REFERENCE   9  (residues 1 to 219)
  AUTHORS   Stoss O, Schwaiger FW, Cooper TA and Stamm S.
  TITLE     Alternative splicing determines the intracellular localization of
            the novel nuclear protein Nop30 and its interaction with the
            splicing factor SRp30c
  JOURNAL   J Biol Chem 274 (16), 10951-10962 (1999)
   PUBMED   10196175
REFERENCE   10 (residues 1 to 219)
  AUTHORS   Koseki T, Inohara N, Chen S and Nunez G.
  TITLE     ARC, an inhibitor of apoptosis expressed in skeletal muscle and
            heart that interacts selectively with caspases
  JOURNAL   Proc Natl Acad Sci U S A 95 (9), 5156-5160 (1998)
   PUBMED   9560245
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC074143.5.
            
            Summary: This gene encodes an anti-apoptotic protein that has been
            shown to down-regulate the enzyme activities of caspase 2, caspase
            8 and tumor protein p53. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jun 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2452273.1,
                                           SRR14243140.7763177.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..219
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     Protein         1..219
                     /product="nucleolar protein 3 isoform Nop30"
                     /note="nucleolar protein of 30 kDa; muscle-enriched
                     cytoplasmic protein; nucleolar protein 3 (apoptosis
                     repressor with CARD domain)"
                     /calculated_mol_wt=24196
     Region          5..92
                     /region_name="DD"
                     /note="Death Domain Superfamily of protein-protein
                     interaction domains; cl14633"
                     /db_xref="CDD:449339"
     CDS             1..219
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYOCL1; MYP; NOP; NOP30"
                     /coded_by="NM_001394977.1:46..705"
                     /note="isoform Nop30 is encoded by transcript variant 12"
                     /db_xref="CCDS:CCDS58473.1"
                     /db_xref="GeneID:8996"
                     /db_xref="HGNC:HGNC:7869"
                     /db_xref="MIM:605235"
ORIGIN      
        1 mgnaqerpse tidrerkrlv etlqadsgll ldallargvl tgpeyealda lpdaerrvrr
       61 llllvqgkge aacqellrca qrtagapdpa wdwqhatgta amtlhaqatg rrrhpargph
      121 apgcpelqtl trpgalrapr rcnpgprrsq sqswklrplk rlnrsrsqsq swnprlkqnq
      181 srnwsqnrtq spsptsrkgt spkipegqss drrcpahag
//
LOCUS       NP_001374978             567 aa            linear   PRI 31-DEC-2022
DEFINITION  replication initiator 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001374978
VERSION     NP_001374978.1
DBSOURCE    REFSEQ: accession NM_001388049.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 567)
  AUTHORS   Sun Y, Sun W, Hua H, Zhang J, Yu Q, Wang J, Liu X and Dong A.
  TITLE     Overexpression of miR-127 Predicts Poor Prognosis and Contributes
            to the Progression of Papillary Thyroid Cancer by Targeting REPIN1
  JOURNAL   Horm Metab Res 53 (3), 197-203 (2021)
   PUBMED   33339069
  REMARK    GeneRIF: Overexpression of miR-127 Predicts Poor Prognosis and
            Contributes to the Progression of Papillary Thyroid Cancer by
            Targeting REPIN1.
REFERENCE   2  (residues 1 to 567)
  AUTHORS   Abshagen K, Berger C, Dietrich A, Schutz T, Wittekind C, Stumvoll
            M, Bluher M and Kloting N.
  TITLE     A Human REPIN1 Gene Variant: Genetic Risk Factor for the
            Development of Nonalcoholic Fatty Liver Disease
  JOURNAL   Clin Transl Gastroenterol 11 (1), e00114 (2020)
   PUBMED   31922994
  REMARK    GeneRIF: A Human REPIN1 Gene Variant: Genetic Risk Factor for the
            Development of Nonalcoholic Fatty Liver Disease.
REFERENCE   3  (residues 1 to 567)
  AUTHORS   Kruger J, Berger C, Weidle K, Schleinitz D, Tonjes A, Stumvoll M,
            Bluher M, Kovacs P and Kloting N.
  TITLE     Metabolic effects of genetic variation in the human REPIN1 gene
  JOURNAL   Int J Obes (Lond) 43 (4), 821-831 (2019)
   PUBMED   29915365
  REMARK    GeneRIF: data suggest that genetic variation in human REPIN1 plays
            a role in glucose and lipid metabolism by differentially affecting
            the expression of REPIN1 target genes including glucose and fatty
            acid transporters
REFERENCE   4  (residues 1 to 567)
  AUTHORS   Wang Y and Lin Y.
  TITLE     Hsa-mir-127 impairs survival of patients with glioma and promotes
            proliferation, migration and invasion of cancerous cells by
            modulating replication initiator 1
  JOURNAL   Neuroreport 29 (14), 1166-1173 (2018)
   PUBMED   29979259
  REMARK    GeneRIF: Increased expression of hsa-mir-127 and decreased
            expression of REPIN1 were both associated with poor overall
            survival
REFERENCE   5  (residues 1 to 567)
  AUTHORS   Meng Y, Wang L, Xu J and Zhang Q.
  TITLE     AP4 positively regulates LAPTM4B to promote hepatocellular
            carcinoma growth and metastasis, while reducing chemotherapy
            sensitivity
  JOURNAL   Mol Oncol 12 (3), 373-390 (2018)
   PUBMED   29337428
  REMARK    GeneRIF: AP4 and LAPTM4B are highly coexpressed in hepatocellular
            carcinoma tissues, and their coexpression may be a marker of poor
            prognosis.
REFERENCE   6  (residues 1 to 567)
  AUTHORS   Montigny WJ, Houchens CR, Illenye S, Gilbert J, Coonrod E, Chang YC
            and Heintz NH.
  TITLE     Condensation by DNA looping facilitates transfer of large DNA
            molecules into mammalian cells
  JOURNAL   Nucleic Acids Res 29 (9), 1982-1988 (2001)
   PUBMED   11328883
REFERENCE   7  (residues 1 to 567)
  AUTHORS   Houchens CR, Montigny W, Zeltser L, Dailey L, Gilbert JM and Heintz
            NH.
  TITLE     The dhfr oribeta-binding protein RIP60 contains 15 zinc fingers:
            DNA binding and looping by the central three fingers and an
            associated proline-rich region
  JOURNAL   Nucleic Acids Res 28 (2), 570-581 (2000)
   PUBMED   10606657
REFERENCE   8  (residues 1 to 567)
  AUTHORS   Mastrangelo IA, Held PG, Dailey L, Wall JS, Hough PV, Heintz N and
            Heintz NH.
  TITLE     RIP60 dimers and multiples of dimers assemble link structures at an
            origin of bidirectional replication in the dihydrofolate reductase
            amplicon of Chinese hamster ovary cells
  JOURNAL   J Mol Biol 232 (3), 766-778 (1993)
   PUBMED   8355269
REFERENCE   9  (residues 1 to 567)
  AUTHORS   Caddle MS, Dailey L and Heintz NH.
  TITLE     RIP60, a mammalian origin-binding protein, enhances DNA bending
            near the dihydrofolate reductase origin of replication
  JOURNAL   Mol Cell Biol 10 (12), 6236-6243 (1990)
   PUBMED   2247056
REFERENCE   10 (residues 1 to 567)
  AUTHORS   Dailey L, Caddle MS, Heintz N and Heintz NH.
  TITLE     Purification of RIP60 and RIP100, mammalian proteins with
            origin-specific DNA-binding and ATP-dependent DNA helicase
            activities
  JOURNAL   Mol Cell Biol 10 (12), 6225-6235 (1990)
   PUBMED   2174103
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005586.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1606641.1,
                                           SRR14038196.3316566.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..567
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     Protein         1..567
                     /product="replication initiator 1 isoform 1"
                     /note="replication initiation region protein (60kD); zinc
                     finger protein 464 (RIP60); H_DJ0584D14.12; zinc finger
                     protein AP4; ATT-binding protein; DHFR oribeta-binding
                     protein RIP60; 60 kDa origin-specific DNA-binding protein;
                     60 kDa replication initiation region protein"
                     /calculated_mol_wt=63444
     Region          17..52
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Site            27
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Site            33
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Region          59..79
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          87..107
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          118..138
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <138..312
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          147..168
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          179..199
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          233..540
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          238..258
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(243,245,247,249..250,253..254,257,271,273,277..278,
                     281..282,285,299,301,303,305..306,309..310,313)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          266..286
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            276
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Region          294..314
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          305..372
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BWE0.1)"
     Region          377..397
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          405..425
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          433..453
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          461..481
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(466,468,470,472..473,476..477,480,494,496,500..501,
                     504..505,508,522,524,526,528..529,532..533,536)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          489..509
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          517..537
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          545..565
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..567
                     /gene="REPIN1"
                     /gene_synonym="AP4; RIP60; Zfp464; ZNF464"
                     /coded_by="NM_001388049.1:238..1941"
                     /note="isoform 1 is encoded by transcript variant 20"
                     /db_xref="CCDS:CCDS43677.1"
                     /db_xref="GeneID:29803"
                     /db_xref="HGNC:HGNC:17922"
                     /db_xref="MIM:619039"
ORIGIN      
        1 mlerrcrgpl amglaqprll sgpsqespqt lgkesrglrq qgtsvaqsga qapgrahrca
       61 hcrrhfpgwv alwlhtrrcq arlplpcpec grrfrhapfl alhrqvhaaa tpdlgfachl
      121 cgqsfrgwva lvlhlrahsa akrpiacpkc errfwrrkql rahlrrchpp apearpficg
      181 ncgrsfaqwd qlvahkrvhv aealeeaaak algprprgrp avtaprpggd avdrpfqcac
      241 cgkrfrhkpn liahrrvhtg erphqcpecg krftnkpylt shrrihtgek pypckecgrr
      301 frhkpnllsh skihkrsegs aqaapgpgsp qlpagpqesa aeptpavplk paqepppgap
      361 pehpqdpiea ppslyscddc grsfrlerfl rahqrqhtge rpftcaecgk nfgkkthlva
      421 hsrvhsgerp faceecgrrf sqgshlaahr rdhapdrpfv cpdcgkafrh kpylaahrri
      481 htgekpyvcp dcgkafsqks nlvshrriht gerpyacpdc drsfsqksnl ithrkshird
      541 gafccaicgq tfddeerlla hqkkhdv
//
LOCUS       NP_001388528             346 aa            linear   PRI 31-DEC-2022
DEFINITION  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3
            isoform 3 [Homo sapiens].
ACCESSION   NP_001388528 XP_016861817
VERSION     NP_001388528.1
DBSOURCE    REFSEQ: accession NM_001401599.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 346)
  AUTHORS   Felici R, Lapucci A, Ramazzotti M and Chiarugi A.
  TITLE     Insight into molecular and functional properties of NMNAT3 reveals
            new hints of NAD homeostasis within human mitochondria
  JOURNAL   PLoS One 8 (10), e76938 (2013)
   PUBMED   24155910
  REMARK    GeneRIF: NMNAT3 is absent in mitochondria in human cells, and, akin
            to plants and yeast, cytosolic NAD maintains the mitochondrial NAD
            pool.
            Erratum:[PLoS One. 2013;8(12).
            doi:10.1371/annotation/f5e6107f-a911-4c15-a881-7cb7e4946ff6]
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 346)
  AUTHORS   Brunetti L, Di Stefano M, Ruggieri S, Cimadamore F and Magni G.
  TITLE     Homology modeling and deletion mutants of human nicotinamide
            mononucleotide adenylyltransferase isozyme 2: new insights on
            structure and function relationship
  JOURNAL   Protein Sci 19 (12), 2440-2450 (2010)
   PUBMED   20954240
REFERENCE   3  (residues 1 to 346)
  AUTHORS   Di Stefano M, Galassi L and Magni G.
  TITLE     Unique expression pattern of human nicotinamide mononucleotide
            adenylyltransferase isozymes in red blood cells
  JOURNAL   Blood Cells Mol Dis 45 (1), 33-39 (2010)
   PUBMED   20457531
  REMARK    GeneRIF: Red blood cells represent the first human cell type with a
            remarkable predominance of NMNAT3 over NMNAT1; NMNAT2 is absent.
REFERENCE   4  (residues 1 to 346)
  AUTHORS   Lau C, Dolle C, Gossmann TI, Agledal L, Niere M and Ziegler M.
  TITLE     Isoform-specific targeting and interaction domains in human
            nicotinamide mononucleotide adenylyltransferases
  JOURNAL   J Biol Chem 285 (24), 18868-18876 (2010)
   PUBMED   20388704
  REMARK    GeneRIF: analysis of isoform-specific targeting and interaction
            domains in human nicotinamide mononucleotide adenylyltransferases
REFERENCE   5  (residues 1 to 346)
  AUTHORS   Yan T, Feng Y and Zhai Q.
  TITLE     Axon degeneration: Mechanisms and implications of a distinct
            program from cell death
  JOURNAL   Neurochem Int 56 (4), 529-534 (2010)
   PUBMED   20117162
  REMARK    Review article
REFERENCE   6  (residues 1 to 346)
  AUTHORS   Sorci L, Cimadamore F, Scotti S, Petrelli R, Cappellacci L,
            Franchetti P, Orsomando G and Magni G.
  TITLE     Initial-rate kinetics of human NMN-adenylyltransferases: substrate
            and metal ion specificity, inhibition by products and
            multisubstrate analogues, and isozyme contributions to NAD+
            biosynthesis
  JOURNAL   Biochemistry 46 (16), 4912-4922 (2007)
   PUBMED   17402747
  REMARK    GeneRIF: NMN binds before ATP with the mitochondrial isozyme
            NMNAT3. Only NMNAT3 utilizes ITP efficiently in place of ATP, and
            NMNH conversion to NADH by NMNAT1 and NMNAT3 occurs at similar
            rates.
REFERENCE   7  (residues 1 to 346)
  AUTHORS   Berger F, Lau C, Dahlmann M and Ziegler M.
  TITLE     Subcellular compartmentation and differential catalytic properties
            of the three human nicotinamide mononucleotide adenylyltransferase
            isoforms
  JOURNAL   J Biol Chem 280 (43), 36334-36341 (2005)
   PUBMED   16118205
  REMARK    GeneRIF: NMNAT1 is a nuclear protein, whereas NMNAT2 and -3 are
            localized to the Golgi complex and the mitochondria
REFERENCE   8  (residues 1 to 346)
  AUTHORS   Magni G, Amici A, Emanuelli M, Orsomando G, Raffaelli N and
            Ruggieri S.
  TITLE     Enzymology of NAD+ homeostasis in man
  JOURNAL   Cell Mol Life Sci 61 (1), 19-34 (2004)
   PUBMED   14704851
  REMARK    Review article
REFERENCE   9  (residues 1 to 346)
  AUTHORS   Zhang X, Kurnasov OV, Karthikeyan S, Grishin NV, Osterman AL and
            Zhang H.
  TITLE     Structural characterization of a human cytosolic NMN/NaMN
            adenylyltransferase and implication in human NAD biosynthesis
  JOURNAL   J Biol Chem 278 (15), 13503-13511 (2003)
   PUBMED   12574164
REFERENCE   10 (residues 1 to 346)
  AUTHORS   Zhou T, Kurnasov O, Tomchick DR, Binns DD, Grishin NV, Marquez VE,
            Osterman AL and Zhang H.
  TITLE     Structure of human nicotinamide/nicotinic acid mononucleotide
            adenylyltransferase. Basis for the dual substrate specificity and
            activation of the oncolytic agent tiazofurin
  JOURNAL   J Biol Chem 277 (15), 13148-13154 (2002)
   PUBMED   11788603
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC110716.6 and AC046134.8.
            On Feb 16, 2022 this sequence version replaced XP_016861817.1.
            
            Summary: This gene encodes a member of the nicotinamide/nicotinic
            acid mononucleotide adenylyltransferase family. These enzymes use
            ATP to catalyze the synthesis of nicotinamide adenine dinucleotide
            or nicotinic acid adenine dinucleotide from nicotinamide
            mononucleotide or nicotinic acid mononucleotide, respectively. The
            encoded protein is localized to mitochondria and may also play a
            neuroprotective role as a molecular chaperone. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, Jan 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372080.4436236.1,
                                           SRR1803612.267071.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 20388704
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..346
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q23"
     Protein         1..346
                     /product="nicotinamide/nicotinic acid mononucleotide
                     adenylyltransferase 3 isoform 3"
                     /EC_number="2.7.7.1"
                     /EC_number="2.7.7.18"
                     /note="pyridine nucleotide adenylyltransferase 3; NaMN
                     adenylyltransferase 3; NMN adenylyltransferase 3;
                     nicotinamide mononucleotide adenylyltransferase 3;
                     nicotinate-nucleotide adenylyltransferase 3; NMN/NaMN
                     adenylyltransferase 3; nicotinamide/nicotinic acid
                     mononucleotide adenylyltransferase 3"
                     /calculated_mol_wt=39166
     Region          7..327
                     /region_name="NMNAT_Eukarya"
                     /note="Nicotinamide/nicotinate mononucleotide
                     adenylyltransferase, Eukaryotic; cd09286"
                     /db_xref="CDD:185681"
     Site            order(11..15,19,21..22,25,226,228..229,231,294)
                     /site_type="active"
                     /db_xref="CDD:185681"
     Site            19..22
                     /site_type="other"
                     /note="(T/H)XGH motif"
                     /db_xref="CDD:185681"
     Region          <39..>136
                     /region_name="DTW"
                     /note="DTW domain; cl01221"
                     /db_xref="CDD:445318"
     CDS             1..346
                     /gene="NMNAT3"
                     /gene_synonym="FKSG76; PNAT-3; PNAT3"
                     /coded_by="NM_001401599.1:446..1486"
                     /note="isoform 3 is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS87147.1"
                     /db_xref="GeneID:349565"
                     /db_xref="HGNC:HGNC:20989"
                     /db_xref="MIM:608702"
ORIGIN      
        1 mksripvvll acgsfnpitn mhlrmfevar dhlhqteyee kdhevalvfp gpqsisikdi
       61 sfhlqkriqn nvssknddpd kssfkrkrte eqafcdlnds kckgttlkki ifidstwnqt
      121 nkiftderlq gmyqviqgii spvndtygkk dlaashhrva marlalqtsd wirvdpwese
      181 qaqwmetvkv lrhhhskllr sppqmegpdh gkalfstpaa vpelkllcga dvlktfqtpn
      241 lwkdahiqei vekfglvcvg rvghdpkgyi aespilrmhq hnihlakepv qneisatyir
      301 ralgqgqsvk ylipdavity ikdhglytkg stwkgkstqs tegkts
//
LOCUS       NP_001393739             131 aa            linear   PRI 01-JAN-2023
DEFINITION  ephrin-A4 isoform d [Homo sapiens].
ACCESSION   NP_001393739
VERSION     NP_001393739.1
DBSOURCE    REFSEQ: accession NM_001406810.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 131)
  AUTHORS   Yuan W, Zhao H, Zhou A and Wang S.
  TITLE     Interference of EFNA4 suppresses cell proliferation, invasion and
            angiogenesis in hepatocellular carcinoma by downregulating PYGO2
  JOURNAL   Cancer Biol Ther 23 (1), 1-12 (2022)
   PUBMED   36404439
  REMARK    GeneRIF: Interference of EFNA4 suppresses cell proliferation,
            invasion and angiogenesis in hepatocellular carcinoma by
            downregulating PYGO2.
REFERENCE   2  (residues 1 to 131)
  AUTHORS   Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA,
            Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X,
            Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang
            B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P,
            Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe
            F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch
            C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras
            A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M,
            Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers
            C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM,
            Elliott P, Walsh T, Tenesa A, Fawkes A, Murphy L, Rowan K, Ponting
            CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry
            SC, Moutsianas L, Law A, Caulfield MJ and Baillie JK.
  CONSRTM   GenOMICC investigators; 23andMe investigators; COVID-19 Human
            Genetics Initiative
  TITLE     Whole-genome sequencing reveals host factors underlying critical
            COVID-19
  JOURNAL   Nature 607 (7917), 97-103 (2022)
   PUBMED   35255492
REFERENCE   3  (residues 1 to 131)
  AUTHORS   Chen YL, Yen YC, Jang CW, Wang SH, Huang HT, Chen CH, Hsiao JR,
            Chang JY and Chen YW.
  TITLE     Ephrin A4-ephrin receptor A10 signaling promotes cell migration and
            spheroid formation by upregulating NANOG expression in oral
            squamous cell carcinoma cells
  JOURNAL   Sci Rep 11 (1), 644 (2021)
   PUBMED   33436772
  REMARK    GeneRIF: Ephrin A4-ephrin receptor A10 signaling promotes cell
            migration and spheroid formation by upregulating NANOG expression
            in oral squamous cell carcinoma cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 131)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 131)
  AUTHORS   Flores MA, Fortea P, Trinidad EM, Garcia D, Soler G, Ortuno FJ,
            Zapata AG and Alonso-Colmenar LM.
  TITLE     EphrinA4 plays a critical role in alpha4 and alphaL mediated
            survival of human CLL cells during extravasation
  JOURNAL   Oncotarget 7 (30), 48481-48500 (2016)
   PUBMED   27374180
  REMARK    GeneRIF: Study present for the first time in vitro and in vivo
            evidence suggesting that the major role of two ephrin A4 isoforms
            in chronic lymphocytic leukemia could be related with a
            non-previously described mechanism of survival linked to
            extravasation strongly dependent on integrin signaling.
REFERENCE   6  (residues 1 to 131)
  AUTHORS   Zhou R.
  TITLE     The Eph family receptors and ligands
  JOURNAL   Pharmacol Ther 77 (3), 151-181 (1998)
   PUBMED   9576626
  REMARK    Review article
REFERENCE   7  (residues 1 to 131)
  AUTHORS   Flanagan JG and Vanderhaeghen P.
  TITLE     The ephrins and Eph receptors in neural development
  JOURNAL   Annu Rev Neurosci 21, 309-345 (1998)
   PUBMED   9530499
  REMARK    Review article
REFERENCE   8  (residues 1 to 131)
  AUTHORS   Gale NW, Holland SJ, Valenzuela DM, Flenniken A, Pan L, Ryan TE,
            Henkemeyer M, Strebhardt K, Hirai H, Wilkinson DG, Pawson T, Davis
            S and Yancopoulos GD.
  TITLE     Eph receptors and ligands comprise two major specificity subclasses
            and are reciprocally compartmentalized during embryogenesis
  JOURNAL   Neuron 17 (1), 9-19 (1996)
   PUBMED   8755474
REFERENCE   9  (residues 1 to 131)
  AUTHORS   Cerretti DP, Lyman SD, Kozlosky CJ, Copeland NG, Gilbert DJ,
            Jenkins NA, Valentine V, Kirstein MN, Shapiro DN and Morris SW.
  TITLE     The genes encoding the eph-related receptor tyrosine kinase ligands
            LERK-1 (EPLG1, Epl1), LERK-3 (EPLG3, Epl3), and LERK-4 (EPLG4,
            Epl4) are clustered on human chromosome 1 and mouse chromosome 3
  JOURNAL   Genomics 33 (2), 277-282 (1996)
   PUBMED   8660976
REFERENCE   10 (residues 1 to 131)
  AUTHORS   Kozlosky CJ, Maraskovsky E, McGrew JT, VandenBos T, Teepe M, Lyman
            SD, Srinivasan S, Fletcher FA, Gayle RB 3rd, Cerretti DP et al.
  TITLE     Ligands for the receptor tyrosine kinases hek and elk: isolation of
            cDNAs encoding a family of proteins
  JOURNAL   Oncogene 10 (2), 299-306 (1995)
   PUBMED   7838529
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL691442.32.
            
            Summary: This gene encodes a member of the ephrin (EPH) family. The
            ephrins and EPH-related receptors comprise the largest subfamily of
            receptor protein-tyrosine kinases and have been implicated in
            mediating developmental events, especially in the nervous system
            and in erythropoiesis. Based on their structures and sequence
            relationships, ephrins are divided into the ephrin-A (EFNA) class,
            which are anchored to the membrane by a
            glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB)
            class, which are transmembrane proteins. This gene encodes an EFNA
            class ephrin that has been implicated in proliferation and
            metastasis of several types of cancers. [provided by RefSeq, May
            2022].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372080.3010822.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
                                   variant(s)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..131
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..131
                     /product="ephrin-A4 isoform d"
                     /note="ligand of eph-related kinase 4; eph-related
                     receptor tyrosine kinase ligand 4"
                     /calculated_mol_wt=14036
     Region          <1..76
                     /region_name="Cupredoxin"
                     /note="Cupredoxin superfamily; cl19115"
                     /db_xref="CDD:450256"
     CDS             1..131
                     /gene="EFNA4"
                     /gene_synonym="EFL4; EPLG4; LERK-4; LERK4"
                     /coded_by="NM_001406810.1:432..827"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="GeneID:1945"
                     /db_xref="HGNC:HGNC:3224"
                     /db_xref="MIM:601380"
ORIGIN      
        1 mvdwpgyesc qaegpraykr wvcslpfghv qfsekiqrft pfslgfeflp getyyyisvp
       61 tpessgqclr lqvsvccker rarvlprspg gggipaactg gansdrqdga lmgeirgsev
      121 tlagacplit g
//
LOCUS       NP_001387147            1098 aa            linear   PRI 01-JAN-2023
DEFINITION  protein transport protein Sec31A isoform 28 [Homo sapiens].
ACCESSION   NP_001387147
VERSION     NP_001387147.1
DBSOURCE    REFSEQ: accession NM_001400218.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1098)
  AUTHORS   Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman
            EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R,
            Abdu U, Flusser H and Birk OS.
  TITLE     SEC31A mutation affects ER homeostasis, causing a neurological
            syndrome
  JOURNAL   J Med Genet 56 (3), 139-148 (2019)
   PUBMED   30464055
  REMARK    GeneRIF: We demonstrate through human and Drosophila genetic and in
            vitro molecular studies, that a severe neurological syndrome is
            caused by a null mutation in SEC31A, reducing cell viability
            through enhanced ER-stress response, in line with SEC31A's role in
            the COP-II complex.
REFERENCE   2  (residues 1 to 1098)
  AUTHORS   Kawaguchi K, Endo A, Fukushima T, Madoka Y, Tanaka T and Komada M.
  TITLE     Ubiquitin-specific protease 8 deubiquitinates Sec31A and decreases
            large COPII carriers and collagen IV secretion
  JOURNAL   Biochem Biophys Res Commun 499 (3), 635-641 (2018)
   PUBMED   29604273
  REMARK    GeneRIF: USP8 deubiquitinates Sec31A and inhibits the formation of
            large COPII carriers, thereby suppressing collagen IV secretion.
REFERENCE   3  (residues 1 to 1098)
  AUTHORS   Maeda M, Katada T and Saito K.
  TITLE     TANGO1 recruits Sec16 to coordinately organize ER exit sites for
            efficient secretion
  JOURNAL   J Cell Biol 216 (6), 1731-1743 (2017)
   PUBMED   28442536
REFERENCE   4  (residues 1 to 1098)
  AUTHORS   McGourty CA, Akopian D, Walsh C, Gorur A, Werner A, Schekman R,
            Bautista D and Rape M.
  TITLE     Regulation of the CUL3 Ubiquitin Ligase by a Calcium-Dependent
            Co-adaptor
  JOURNAL   Cell 167 (2), 525-538 (2016)
   PUBMED   27716508
REFERENCE   5  (residues 1 to 1098)
  AUTHORS   Jin L, Pahuja KB, Wickliffe KE, Gorur A, Baumgartel C, Schekman R
            and Rape M.
  TITLE     Ubiquitin-dependent regulation of COPII coat size and function
  JOURNAL   Nature 482 (7386), 495-500 (2012)
   PUBMED   22358839
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1098)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human RPE/choroid for the
            NEIBank Project: over 6000 non-redundant transcripts, novel genes
            and splice variants
  JOURNAL   Mol Vis 8, 205-220 (2002)
   PUBMED   12107410
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 1098)
  AUTHORS   Kim JH, Hong JA, Pih KT and Hwang I.
  TITLE     Identification and isolation of differentially expressed genes in
            osmotically stressed human oral keratinocytes
  JOURNAL   Arch Oral Biol 46 (4), 335-341 (2001)
   PUBMED   11269867
REFERENCE   8  (residues 1 to 1098)
  AUTHORS   Kirchhausen T.
  TITLE     Three ways to make a vesicle
  JOURNAL   Nat Rev Mol Cell Biol 1 (3), 187-198 (2000)
   PUBMED   11252894
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol 2001 Mar;2(3):216]
REFERENCE   9  (residues 1 to 1098)
  AUTHORS   Tang BL, Zhang T, Low DY, Wong ET, Horstmann H and Hong W.
  TITLE     Mammalian homologues of yeast sec31p. An ubiquitously expressed
            form is localized to endoplasmic reticulum (ER) exit sites and is
            essential for ER-Golgi transport
  JOURNAL   J Biol Chem 275 (18), 13597-13604 (2000)
   PUBMED   10788476
REFERENCE   10 (residues 1 to 1098)
  AUTHORS   Lippincott-Schwartz J, Roberts TH and Hirschberg K.
  TITLE     Secretory protein trafficking and organelle dynamics in living
            cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021105.13 and AC108469.5.
            
            Summary: The protein encoded by this gene shares similarity with
            the yeast Sec31 protein, and is a component of the outer layer of
            the coat protein complex II (COPII). The encoded protein is
            involved in vesicle budding from the endoplasmic reticulum (ER) and
            contains multiple WD repeats near the N-terminus and a proline-rich
            region in the C-terminal half. It associates with the protein
            encoded by the SEC13 homolog, nuclear pore and COPII coat complex
            component (SEC13), and is required for ER-Golgi transport.
            Monoubiquitylation of this protein by CUL3-KLHL12 was found to
            regulate the size of COPII coats to accommodate unusually shaped
            cargo. Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Dec 2015].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.836489.1,
                                           SRR14038196.3320227.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1098
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.22"
     Protein         1..1098
                     /product="protein transport protein Sec31A isoform 28"
                     /note="yeast Sec31p homolog; protein transport protein
                     Sec31A; web1-like protein; SEC31-related protein A;
                     SEC31-like protein 1; SEC31 homolog A, COPII coating
                     complex component"
                     /calculated_mol_wt=120754
     Region          13..332
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          13..65
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Site            order(26,40,46..47,52..53,91,95,101..102,117,121,139,144,
                     150..151,164,185,190,196..197,209..210,231,235,244..245,
                     258..259,277,282,288..289,301..302,320,325,331..332)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          70..119
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          125..162
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          172..208
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          214..257
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          263..302
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          306..331
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <534..>657
                     /region_name="ACE1-Sec16-like"
                     /note="Ancestral coatomer element 1 (ACE1) of COPII coat
                     complex assembly protein Sec16; cl14807"
                     /db_xref="CDD:449359"
     Site            order(535..539,541,543,554,556,557..558,560..561,565,571,
                     579,591,594,619..620)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:187750"
     Region          737..>989
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     CDS             1..1098
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /coded_by="NM_001400218.1:68..3364"
                     /note="isoform 28 is encoded by transcript variant 52"
                     /db_xref="GeneID:22872"
                     /db_xref="HGNC:HGNC:17052"
                     /db_xref="MIM:610257"
ORIGIN      
        1 mklkevdrta mqawspaqnh piylatgtsa qqldatfstn asleifeldl sdpsldmksc
       61 atfssshryh kliwgpykmd skgdvsgvli aggengniil ydpskiiagd kevviaqndk
      121 htgpvraldv nifqtnlvas ganeseiyiw dlnnfatpmt pgaktqpped isciawnrqv
      181 qhilasasps gratvwdlrk nepiikvsdh snrmhcsgla whpdvatqmv laseddrlpv
      241 iqmwdlrfas splrvlenha rgilaiawsm adpelllscg kdakilcsnp ntgevlyelp
      301 tntqwcfdiq wcprnpavls aasfdgrisv ysimggstdg lrqkqvdkls ssfgnldpfg
      361 tgqplpplqi pqqtaqhsiv lplkkppkwi rrpvgasfsf ggklvtfenv rmpshqgaeq
      421 qqqqhhvfis qvvtekefls rsdqlqqavq sqgfinycqk kidasqtefe knvwsflkvn
      481 feddsrgkyl ellgyrkedl gkkhikeeke eseflpssgg tfnisvsgdi dglitqallt
      541 gnfesavdlc lhdnrmadai ilaiaggqel lartqkkyfa ksqskitrli tavvmknwke
      601 ivescdlknw realaavlty akpdefsalc dllgtrlene gdsllqtqac lcyicagnve
      661 klvacwtkaq dgshplslqd liekvvilrk avqltqamdt stvgvllaak msqyanllaa
      721 qgsiaaalaf lpdntnqpni mqlrdrlcra qgepvaghes pkipyekqql pkgrpgpvag
      781 hhqmprvqtq qyyphvriap tvttwsnktp talpshppaa spsdtqgenp pppgfimhgn
      841 vnpnaagqlp tspghmhtqv ppypqpqrpq ngwndppaln rvpkkkkmpe nfmppvpits
      901 pimnplgdpq sqmlqqqpsa pvplssqssf pqphlpggqp fhgvqqplgq tgmppsfskp
      961 niegapgapi gntfqhvqsl ptkkitkkpi pdehlilktt fedliqrcls satdpqtkrk
     1021 lddaskrlef lydklreqtl sptitsglhn iarsietrny segltmhthi vstsnfsets
     1081 afmpvlkvvl tqanklgv
//
LOCUS       NP_001400420            1780 aa            linear   PRI 01-JAN-2023
DEFINITION  collagen alpha-1(XIV) chain isoform 2 precursor [Homo sapiens].
ACCESSION   NP_001400420 XP_047278156
VERSION     NP_001400420.1
DBSOURCE    REFSEQ: accession NM_001413491.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1780)
  AUTHORS   Naba A, Pearce OMT, Del Rosario A, Ma D, Ding H, Rajeeve V,
            Cutillas PR, Balkwill FR and Hynes RO.
  TITLE     Characterization of the Extracellular Matrix of Normal and Diseased
            Tissues Using Proteomics
  JOURNAL   J Proteome Res 16 (8), 3083-3091 (2017)
   PUBMED   28675934
REFERENCE   2  (residues 1 to 1780)
  AUTHORS   Ragelle H, Naba A, Larson BL, Zhou F, Prijic M, Whittaker CA, Del
            Rosario A, Langer R, Hynes RO and Anderson DG.
  TITLE     Comprehensive proteomic characterization of stem cell-derived
            extracellular matrices
  JOURNAL   Biomaterials 128, 147-159 (2017)
   PUBMED   28327460
REFERENCE   3  (residues 1 to 1780)
  AUTHORS   Barallobre-Barreiro J, Oklu R, Lynch M, Fava M, Baig F, Yin X,
            Barwari T, Potier DN, Albadawi H, Jahangiri M, Porter KE, Watkins
            MT, Misra S, Stoughton J and Mayr M.
  TITLE     Extracellular matrix remodelling in response to venous
            hypertension: proteomics of human varicose veins
  JOURNAL   Cardiovasc Res 110 (3), 419-430 (2016)
   PUBMED   27068509
REFERENCE   4  (residues 1 to 1780)
  AUTHORS   Hoffmann J, Marsh LM, Pieper M, Stacher E, Ghanim B, Kovacs G,
            Konig P, Wilkens H, Haitchi HM, Hoefler G, Klepetko W, Olschewski
            H, Olschewski A and Kwapiszewska G.
  TITLE     Compartment-specific expression of collagens and their processing
            enzymes in intrapulmonary arteries of IPAH patients
  JOURNAL   Am J Physiol Lung Cell Mol Physiol 308 (10), L1002-L1013 (2015)
   PUBMED   25840998
  REMARK    GeneRIF: the intima+media of IPAH vessels, collagens (COL4A5,
            COL14A1, and COL18A1), matrix metalloproteinase (MMP) 19, and a
            disintegrin and metalloprotease (ADAM) 33 were higher expressed,
            whereas MMP10, ADAM17, TIMP1, and TIMP3 were less abundant.
REFERENCE   5  (residues 1 to 1780)
  AUTHORS   Oh S and Oh S.
  TITLE     Epidemiological and genome-wide association study of gastritis or
            gastric ulcer in korean populations
  JOURNAL   Genomics Inform 12 (3), 127-133 (2014)
   PUBMED   25317112
REFERENCE   6  (residues 1 to 1780)
  AUTHORS   Tono-Oka S, Tanase S, Miike T and Tanaka H.
  TITLE     Transient expression of collagen type XIV during muscle development
            and its reappearance after denervation and degeneration
  JOURNAL   J Histochem Cytochem 44 (8), 907-918 (1996)
   PUBMED   8756762
REFERENCE   7  (residues 1 to 1780)
  AUTHORS   Schnittger S, Herbst H, Schuppan D, Dannenberg C, Bauer M and
            Fonatsch C.
  TITLE     Localization of the undulin gene (UND) to human chromosome band
            8q23
  JOURNAL   Cytogenet Cell Genet 68 (3-4), 233-234 (1995)
   PUBMED   7842743
REFERENCE   8  (residues 1 to 1780)
  AUTHORS   Casini A, Ceni E, Salzano R, Schuppan D, Milani S, Pellegrini G and
            Surrenti C.
  TITLE     Regulation of undulin synthesis and gene expression in human
            fat-storing cells by acetaldehyde and transforming growth
            factor-beta 1: comparison with fibronectin
  JOURNAL   Biochem Biophys Res Commun 199 (2), 1019-1026 (1994)
   PUBMED   8135774
REFERENCE   9  (residues 1 to 1780)
  AUTHORS   Just M, Herbst H, Hummel M, Durkop H, Tripier D, Stein H and
            Schuppan D.
  TITLE     Undulin is a novel member of the fibronectin-tenascin family of
            extracellular matrix glycoproteins
  JOURNAL   J Biol Chem 266 (26), 17326-17332 (1991)
   PUBMED   1716629
REFERENCE   10 (residues 1 to 1780)
  AUTHORS   Schuppan D, Cantaluppi MC, Becker J, Veit A, Bunte T, Troyer D,
            Schuppan F, Schmid M, Ackermann R and Hahn EG.
  TITLE     Undulin, an extracellular matrix glycoprotein associated with
            collagen fibrils
  JOURNAL   J Biol Chem 265 (15), 8823-8832 (1990)
   PUBMED   2187872
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090736.5, AC020603.4 and
            AC107877.4.
            On Nov 3, 2022 this sequence version replaced XP_047278156.1.
            
            Summary: This gene encodes the alpha chain of type XIV collagen, a
            member of the FACIT (fibril-associated collagens with interrupted
            triple helices) collagen family. Type XIV collagen interacts with
            the fibril surface and is involved in the regulation of
            fibrillogenesis. [provided by RefSeq, Jan 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2491520.1,
                                           SRR14038197.2366794.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1780
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.12"
     Protein         1..1780
                     /product="collagen alpha-1(XIV) chain isoform 2 precursor"
                     /note="undulin (fibronectin-tenascin-related); collagen,
                     type XIV, alpha 1"
                     /calculated_mol_wt=188458
     sig_peptide     1..28
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
                     /calculated_mol_wt=3463
     Region          32..112
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            94
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            order(107..108,110..111)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          124..145
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05707.3)"
     Site            137
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Region          157..320
                     /region_name="vWA_collagen_alphaI-XII-like"
                     /note="Collagen: The extracellular matrix represents a
                     complex alloy of variable members of diverse protein
                     families defining structural integrity and various
                     physiological functions. The most abundant family is the
                     collagens with more than 20 different...; cd01482"
                     /db_xref="CDD:238759"
     Site            order(164,166,168,235,268)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238759"
     Site            order(166..168,170,235)
                     /site_type="active"
                     /note="integrin-collagen binding site [active]"
                     /db_xref="CDD:238759"
     Region          354..432
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            372
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Region          447..516
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Site            order(522..523,525..526)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          536..621
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(611..612,614..615)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          630..701
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Region          739..817
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Region          832..901
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(907..908,910..911)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          922..997
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          1031..1195
                     /region_name="vWA_collagen_alphaI-XII-like"
                     /note="Collagen: The extracellular matrix represents a
                     complex alloy of variable members of diverse protein
                     families defining structural integrity and various
                     physiological functions. The most abundant family is the
                     collagens with more than 20 different...; cd01482"
                     /db_xref="CDD:238759"
     Site            order(1038,1040,1042,1110,1143)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238759"
     Site            order(1040..1042,1044,1110)
                     /site_type="active"
                     /note="integrin-collagen binding site [active]"
                     /db_xref="CDD:238759"
     Region          1217..1458
                     /region_name="Nonhelical region (NC4)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05707.3)"
     Region          1229..1424
                     /region_name="TSPN"
                     /note="Thrombospondin N-terminal -like domains;
                     smart00210"
                     /db_xref="CDD:214560"
     Site            1384
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1388
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Region          1459..1610
                     /region_name="Triple-helical region 1 (COL2)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05707.3)"
     Region          1462..1613
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1467
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1470
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1476
                     /site_type="hydroxylation"
                     /note="5-hydroxylysine, alternate.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1476
                     /site_type="glycosylation"
                     /note="O-linked (Gal...) hydroxylysine, alternate.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Region          <1479..>1609
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Site            1482
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1485
                     /site_type="hydroxylation"
                     /note="5-hydroxylysine, partial.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1485
                     /site_type="glycosylation"
                     /note="O-linked (Gal...) hydroxylysine, partial.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1497
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1503
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1517
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1520
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1523
                     /site_type="hydroxylation"
                     /note="5-hydroxylysine, partial.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1523
                     /site_type="glycosylation"
                     /note="O-linked (Gal...) hydroxylysine, partial.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1526
                     /site_type="hydroxylation"
                     /note="5-hydroxylysine, partial.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1526
                     /site_type="glycosylation"
                     /note="O-linked (Gal...) hydroxylysine, partial.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1532
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1538
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1544
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1550
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1556
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1565
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1568
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1574
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1577
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1580
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Region          <1581..>1757
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Site            1595
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1598
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1601
                     /site_type="hydroxylation"
                     /note="5-hydroxylysine, alternate.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1601
                     /site_type="glycosylation"
                     /note="O-linked (Gal...) hydroxylysine, alternate.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Region          1607..1609
                     /region_name="Cell attachment site. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1643
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1656
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1659
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1662
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1665
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1668
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1674
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1677
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1680
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1686
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1689
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1698
                     /site_type="hydroxylation"
                     /note="5-hydroxylysine, alternate.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1698
                     /site_type="glycosylation"
                     /note="O-linked (Gal...) hydroxylysine, alternate.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1701
                     /site_type="hydroxylation"
                     /note="5-hydroxylysine, alternate.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1701
                     /site_type="glycosylation"
                     /note="O-linked (Gal...) hydroxylysine, alternate.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1704
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1715
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1726
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1729
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1732
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1735
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1741
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1747
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     Site            1756
                     /site_type="hydroxylation"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7827751; propagated from
                     UniProtKB/Swiss-Prot (Q05707.3)"
     CDS             1..1780
                     /gene="COL14A1"
                     /gene_synonym="UND"
                     /coded_by="NM_001413491.1:74..5416"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 4"
                     /db_xref="GeneID:7373"
                     /db_xref="HGNC:HGNC:2191"
                     /db_xref="MIM:120324"
ORIGIN      
        1 mkifqrkmry wllppflaiv yfctivqgqv apptrlrynv ishdsiqisw kaprgkfggy
       61 kllvtptsgg ktnqlnlqnt atkaiiqglm pdqnytvqii aynkdkeskp aqgqfrikdl
      121 ekrkdpkprv kvvdrgngsr psspeevkfv cqtpaiadiv ilvdgswsig rfnfrlvrhf
      181 lenlvtafdv gsektrigla qysgdpriew hlnafstkde vieavrnlpy kggntltgla
      241 lnyifensfk peagsrtgvs kigilitdgk sqddiippsr nlresgvelf aigvknadvn
      301 elqeiasepd sthvynvaef dlmhtvvesl trtlcsrvee qdreikasah aitgppteli
      361 tsevtarsfm vnwthapgnv ekyrvvyypt rggkpdevvv dgtvsstvlk nlmslteyqi
      421 avfaiyahta seglrgtett lalpmasdll lydvtensmr vkwdavpgas gylilyaplt
      481 eglagdekem kigethtdie lsgllpntey tvtvyamfge easdpvtgqe ttlalspprn
      541 lrisnvgsns arltwdptsr qingyrivyn nadgteinev evdpittfpl kgltplteyt
      601 iaifsiydeg qsepltgvft teevpaqqyl eidevttdsf rvtwhplsad eglhklmwip
      661 vyggkteevv lkeeqdshvi eglepgteye vsllavlddg sesevvtavg ttldsfwtep
      721 attivpttsv tsvfqtgirn lvvgdettss lrvkwdisds dvqqfrvtym taqgdpeeev
      781 igtvmvpgsq nnlllkpllp dteykvtvtp iytdgegvsv sapgktlpss gpqnlrvsee
      841 wynrlritwd ppsspvkgyr ivykpvsvpg ptletfvgad intilitnll sgmdynvkif
      901 asqasgfsda ltgmvktlfl gvtnlqakhv emtslcahwq vhrhatayrv vieslqdrqk
      961 qestvgggtt rhcfyglqpd seykisvytk lqeiegpsvs imektqslpt rpptfpptip
     1021 pakevckaak adlvfmvdgs wsigdenfnk iisflystvg alnkigtdgt qvamvqftdd
     1081 prtefklnay ktketlldai khisykggnt ktgkaikyvr dtlftaesgt rrgipkvivv
     1141 itdgrsqddv nkisremqld gysifaigva dadyselvsi gskpsarhvf fvddfdafkk
     1201 iedelitfvc etasatcpvv hkdgidlagf kmmemfglve kdfssvegvs mepgtfnvfp
     1261 cyqlhkdalv sqptrylhpe glpsdytisf lfrilpdtpq epfalweiln knsdplvgvi
     1321 ldnggktlty fnydqsgdfq tvtfegpeir kifygsfhkl hivvsetlvk vvidckqvge
     1381 kamnasanit sdgvevlgkm vrsrgpggns apfqlqmfdi vcstswantd kccelpglrd
     1441 descpdlphs cscsetneva lgpagppggp glrgpkgqqg epgpkgpdgp rgeiglpgpq
     1501 gppgpqgpsg lsiqgmpgmp gekgekgdtg lpgpqgipgg vgspgrdgsp gqrglpgkdg
     1561 ssgppgppgp igipgtpgvp gitgsmgpqg algppgvpga kgergergdl qsqamvrsva
     1621 rqvceqliqs hmarytailn qipshsssir tvqgppgepg rpgspgapge qgppgtpgfp
     1681 gnagvpgtpg ergltgikge kgnpgvgtqg prgppgpagp sgesrpgspg ppgspgprgp
     1741 pghlgvpgpq gpsgqpgycd psscsaygvr dlipyndyqh
//
LOCUS       NP_001399938             297 aa            linear   PRI 01-JAN-2023
DEFINITION  protein FAN isoform 15 [Homo sapiens].
ACCESSION   NP_001399938
VERSION     NP_001399938.1
DBSOURCE    REFSEQ: accession NM_001413009.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 297)
  AUTHORS   Forsberg J, Li X, Zamaraev AV, Panaretakis T, Zhivotovsky B and
            Olsson M.
  TITLE     Caspase-2 associates with FAN through direct interaction and
            overlapping functionality
  JOURNAL   Biochem Biophys Res Commun 499 (4), 822-828 (2018)
   PUBMED   29621545
  REMARK    GeneRIF: these data identify a novel caspase-2-interacting factor,
            FAN, and expand the role for the enzyme in seemingly non-apoptotic
            cellular mechanisms.
REFERENCE   2  (residues 1 to 297)
  AUTHORS   Qrafli M, Asekkaj I, Bourkadi JE, El Aouad R and Sadki K.
  TITLE     New variant identified in major susceptibility locus to
            tuberculosis on chromosomal region 8q12-q13 in Moroccan population:
            a case control study
  JOURNAL   BMC Infect Dis 17 (1), 712 (2017)
   PUBMED   29115933
  REMARK    GeneRIF: The rs1050504 C > T genotype was observed to be
            significantly associated with an increased risk for developing
            pulmonary tuberculosis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 297)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (residues 1 to 297)
  AUTHORS   Steffens A, Brautigam A, Jakoby M and Hulskamp M.
  TITLE     The BEACH Domain Protein SPIRRIG Is Essential for Arabidopsis Salt
            Stress Tolerance and Functions as a Regulator of Transcript
            Stabilization and Localization
  JOURNAL   PLoS Biol 13 (7), e1002188 (2015)
   PUBMED   26133670
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 297)
  AUTHORS   Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A,
            Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V,
            Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I,
            Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat
            JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang
            W, Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd
            PM, Hayward C, Aulchenko Y, Campbell H and Rudan I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   6  (residues 1 to 297)
  AUTHORS   Tcherkasowa AE, Adam-Klages S, Kruse ML, Wiegmann K, Mathieu S,
            Kolanus W, Kronke M and Adam D.
  TITLE     Interaction with factor associated with neutral sphingomyelinase
            activation, a WD motif-containing protein, identifies receptor for
            activated C-kinase 1 as a novel component of the signaling pathways
            of the p55 TNF receptor
  JOURNAL   J Immunol 169 (9), 5161-5170 (2002)
   PUBMED   12391233
  REMARK    GeneRIF: The interaction of FAN with receptor for activated
            C-kinase 1 (RACK1) appears to be dependent on the folding of the WD
            repeats into a secondary structure, because no linear binding
            motifs are identified in the WD-repeat region of FAN.
REFERENCE   7  (residues 1 to 297)
  AUTHORS   Segui B, Andrieu-Abadie N, Adam-Klages S, Meilhac O, Kreder D,
            Garcia V, Bruno AP, Jaffrezou JP, Salvayre R, Kronke M and Levade
            T.
  TITLE     CD40 signals apoptosis through FAN-regulated activation of the
            sphingomyelin-ceramide pathway
  JOURNAL   J Biol Chem 274 (52), 37251-37258 (1999)
   PUBMED   10601289
REFERENCE   8  (residues 1 to 297)
  AUTHORS   Zhang Y, Kreder D, Schwandner R, Krut O, Scherer G, Adam-Klages S,
            Siebert R, Kronke M and Schlegelberger B.
  TITLE     Assignment of the human FAN protein gene (NSMAF) to human
            chromosome region 8q12-->q13 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 87 (1-2), 115-116 (1999)
   PUBMED   10640829
REFERENCE   9  (residues 1 to 297)
  AUTHORS   Adam-Klages S, Schwandner R, Adam D, Kreder D, Bernardo K and
            Kronke M.
  TITLE     Distinct adapter proteins mediate acid versus neutral
            sphingomyelinase activation through the p55 receptor for tumor
            necrosis factor
  JOURNAL   J Leukoc Biol 63 (6), 678-682 (1998)
   PUBMED   9620659
  REMARK    Review article
REFERENCE   10 (residues 1 to 297)
  AUTHORS   Adam-Klages S, Adam D, Wiegmann K, Struve S, Kolanus W,
            Schneider-Mergener J and Kronke M.
  TITLE     FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to
            neutral sphingomyelinase
  JOURNAL   Cell 86 (6), 937-947 (1996)
   PUBMED   8808629
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC068522.7.
            
            Summary: This gene encodes a WD-repeat protein that binds the
            cytoplasmic sphingomyelinase activation domain of the 55kD tumor
            necrosis factor receptor. This protein is required for TNF-mediated
            activation of neutral sphingomyelinase and may play a role in
            regulating TNF-induced cellular responses such as inflammation.
            Alternative splicing results in multiple transcript
            variants.[provided by RefSeq, Jan 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.331125.1,
                                           SRR14372080.1725635.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..297
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     Protein         1..297
                     /product="protein FAN isoform 15"
                     /note="protein FAN; factor associated with N-SMase
                     activation; factor associated with neutral
                     sphingomyelinase activation; neutral sphingomyelinase
                     (N-SMase) activation associated factor"
                     /calculated_mol_wt=32448
     Region          13..294
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Region          13..50
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Site            order(27,31,37..38,50..51,69,73,79..80,92..93,108,113,
                     119..120,133,159,164,170..171,183..184,202,206,212..213,
                     225..226,240,245,251..252,264..265,283,287,293..294)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          56..92
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          97..131
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          147..182
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          188..225
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          269..293
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..297
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /coded_by="NM_001413009.1:86..979"
                     /note="isoform 15 is encoded by transcript variant 24"
                     /db_xref="GeneID:8439"
                     /db_xref="HGNC:HGNC:8017"
                     /db_xref="MIM:603043"
ORIGIN      
        1 mahrkgpcnp ravtgitvsr ngssvfttsq dstlkmfske skmlqrsisf snmalsscll
       61 lpgdatvits swdnnvyfys iafgrrqdtl mghddavski cwhdnrlysa swdstvkvws
      121 gvpaempgtk rhhfdllael ehdvsvdtis lnaastllvs gtkegtvniw dlttatlmhq
      181 ipchsgivcd tafspdsrhv lstgtdgcln vidvqtgmli ssmtsdepqr cfvwdgnsvl
      241 sgsqsgellv wdllgakise riqghtgavt ciwmneqcss iitggedrqi ifwklqy
//
LOCUS       NP_001242945             138 aa            linear   PRI 08-JAN-2023
DEFINITION  homologous-pairing protein 2 homolog isoform 4 [Homo sapiens].
ACCESSION   NP_001242945
VERSION     NP_001242945.1
DBSOURCE    REFSEQ: accession NM_001256016.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 138)
  AUTHORS   Mei L, Huang L, Huang Y, Wu X, He H, He X, Su Z and Li P.
  TITLE     Two novel biallelic mutations in PSMC3IP in a patient affected by
            premature ovarian insufficiency
  JOURNAL   Mol Med Rep 25 (2) (2022)
   PUBMED   34878148
  REMARK    GeneRIF: Two novel biallelic mutations in PSMC3IP in a patient
            affected by premature ovarian insufficiency.
REFERENCE   2  (residues 1 to 138)
  AUTHORS   Nathansen J, Lukiyanchuk V, Hein L, Stolte MI, Borgmann K, Lock S,
            Kurth I, Baumann M, Krause M, Linge A and Dubrovska A.
  TITLE     Oct4 confers stemness and radioresistance to head and neck squamous
            cell carcinoma by regulating the homologous recombination factors
            PSMC3IP and RAD54L
  JOURNAL   Oncogene 40 (24), 4214-4228 (2021)
   PUBMED   34079088
  REMARK    GeneRIF: Oct4 confers stemness and radioresistance to head and neck
            squamous cell carcinoma by regulating the homologous recombination
            factors PSMC3IP and RAD54L.
REFERENCE   3  (residues 1 to 138)
  AUTHORS   Ding J, Li Y, Fan H, Xu W, Gao R, Bai S, Zhu Z, Yang W, Gong Y,
            Yang J and Zhou J.
  TITLE     Knockdown of PSMC3IP suppresses the proliferation and xenografted
            tumorigenesis of hepatocellular carcinoma cell
  JOURNAL   J Cell Biochem 120 (4), 5449-5458 (2019)
   PUBMED   30362169
  REMARK    GeneRIF: targeting PSMC3IP maybe a promising strategy for
            Hepatocellular carcinoma.
REFERENCE   4  (residues 1 to 138)
  AUTHORS   Yang X, Touraine P, Desai S, Humphreys G, Jiang H, Yatsenko A and
            Rajkovic A.
  TITLE     Gene variants identified by whole-exome sequencing in 33 French
            women with premature ovarian insufficiency
  JOURNAL   J Assist Reprod Genet 36 (1), 39-45 (2019)
   PUBMED   30406445
  REMARK    GeneRIF: Pathogenic variant in PSMC3IP gene is associated with
            premature ovarian insufficiency.
REFERENCE   5  (residues 1 to 138)
  AUTHORS   Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M,
            Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L,
            Renbaum P and Levy-Lahad E.
  TITLE     XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that
            abolishes coactivation of estrogen-driven transcription
  JOURNAL   Am J Hum Genet 89 (4), 572-579 (2011)
   PUBMED   21963259
  REMARK    GeneRIF: a PSMC3IP/HOP2 mutation may cause XX ovarian dysgenesis
            through abolishing coactivation of estrogen-driven transcription
REFERENCE   6  (residues 1 to 138)
  AUTHORS   Enomoto R, Kinebuchi T, Sato M, Yagi H, Kurumizaka H and Yokoyama
            S.
  TITLE     Stimulation of DNA strand exchange by the human TBPIP/Hop2-Mnd1
            complex
  JOURNAL   J Biol Chem 281 (9), 5575-5581 (2006)
   PUBMED   16407260
  REMARK    GeneRIF: Data suggest that the human TBPIP/Hop2-Mnd1 complex may
            ensure proper pairing between homologous chromosomes through its
            stimulation of strand exchange during meiosis.
REFERENCE   7  (residues 1 to 138)
  AUTHORS   Ko L, Cardona GR, Henrion-Caude A and Chin WW.
  TITLE     Identification and characterization of a tissue-specific
            coactivator, GT198, that interacts with the DNA-binding domains of
            nuclear receptors
  JOURNAL   Mol Cell Biol 22 (1), 357-369 (2002)
   PUBMED   11739747
  REMARK    GeneRIF: Identification of GT198 (TBPIP/Hop2) as a nuclear receptor
            coactivator. GT198 is phosphorylation regulated. GT198 interacts
            with nuclear receptors.
REFERENCE   8  (residues 1 to 138)
  AUTHORS   Ijichi H, Tanaka T, Nakamura T, Yagi H, Hakuba A and Sato M.
  TITLE     Molecular cloning and characterization of a human homologue of
            TBPIP, a BRCA1 locus-related gene
  JOURNAL   Gene 248 (1-2), 99-107 (2000)
   PUBMED   10806355
REFERENCE   9  (residues 1 to 138)
  AUTHORS   Tanaka T, Nakamura T, Takagi H and Sato M.
  TITLE     Molecular cloning and characterization of a novel TBP-1 interacting
            protein (TBPIP):enhancement of TBP-1 action on Tat by TBPIP
  JOURNAL   Biochem Biophys Res Commun 239 (1), 176-181 (1997)
   PUBMED   9345291
REFERENCE   10 (residues 1 to 138)
  AUTHORS   Rommens JM, Durocher F, McArthur J, Tonin P, LeBlanc JF, Allen T,
            Samson C, Ferri L, Narod S, Morgan K et al.
  TITLE     Generation of a transcription map at the HSD17B locus centromeric
            to BRCA1 at 17q21
  JOURNAL   Genomics 28 (3), 530-542 (1995)
   PUBMED   7490091
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067852.23.
            
            Summary: This gene encodes a protein that functions in meiotic
            recombination. It is a subunit of the PSMC3IP/MND1 complex, which
            interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated
            strand exchange during meiosis. The protein encoded by this gene
            can also co-activate ligand-driven transcription mediated by
            estrogen, androgen, glucocorticoid, progesterone, and thyroid
            nuclear receptors. Mutations in this gene cause XX female gonadal
            dysgenesis. Alternative splicing of this gene results in multiple
            transcript variants. [provided by RefSeq, Dec 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BI115923.1, SRR12921934.1448047.1
                                           [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2151119,
                                           SAMEA2161674 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..138
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     Protein         1..138
                     /product="homologous-pairing protein 2 homolog isoform 4"
                     /note="homologous-pairing protein 2 homolog;
                     DBD-interacting; nuclear receptor coactivator GT198;
                     TBP-1-interacting protein; tat-binding protein
                     1-interacting protein; proteasome 26S ATPase subunit
                     3-interacting protein"
                     /calculated_mol_wt=15932
     Region          <5..>129
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     Region          75..131
                     /region_name="LZ3wCH"
                     /note="Leucine zipper with capping helix domain;
                     pfam18517"
                     /db_xref="CDD:436555"
     CDS             1..138
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /coded_by="NM_001256016.2:300..716"
                     /note="isoform 4 is encoded by transcript variant 5"
                     /db_xref="GeneID:29893"
                     /db_xref="HGNC:HGNC:17928"
                     /db_xref="MIM:608665"
ORIGIN      
        1 mvsdadlqvl dgkivaltak vqslqqscry meaelkelss alttpemqke iqelkkecag
       61 yrerlknika atnhvtpeek eqvyrerqky ckewrkrkrm atelsdaile gypkskkqff
      121 eevgietded ynvtlpdp
//
LOCUS       NP_001445                421 aa            linear   PRI 22-JAN-2023
DEFINITION  forkhead box protein J1 [Homo sapiens].
ACCESSION   NP_001445
VERSION     NP_001445.2
DBSOURCE    REFSEQ: accession NM_001454.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 421)
  AUTHORS   Weir A, Kang EY, Meagher NS, Nelson GS, Ghatage P, Lee CH, Riggan
            MJ, Gentry-Maharaj A, Ryan A, Singh N, Widschwendter M, Alsop J,
            Anglesio MS, Beckmann MW, Berger J, Bisinotto C, Boros J, Brand AH,
            Brenton JD, Brooks-Wilson A, Carney ME, Cunningham JM,
            Cushing-Haugen KL, Cybulski C, Elishaev E, Erber R, Fereday S,
            Fischer A, Paz-Ares L, Gayarre J, Gilks BC, Grube M, Harnett PR,
            Harris HR, Hartmann A, Hein A, Hendley J, Hernandez BY, Heublein S,
            Huang Y, Huzarski T, Jakubowska A, Jimenez-Linan M, Kennedy CJ,
            Kommoss FKF, Koziak JM, Kraemer B, Le ND, Lesnock J, Lester J,
            Lubinski J, Menkiszak J, Ney B, Olawaiye A, Orsulic S, Osorio A,
            Robles-Diaz L, Ruebner M, Shah M, Sharma R, Shvetsov YB, Steed H,
            Talhouk A, Taylor SE, Traficante N, Vierkant RA, Wang C, Wilkens
            LR, Winham SJ, Benitez J, Berchuck A, Bowtell DD, Candido Dos Reis
            FJ, Cook LS, DeFazio A, Doherty JA, Fasching PA, Garcia MJ, Goode
            EL, Goodman MT, Gronwald J, Huntsman DG, Karlan BY, Kommoss S,
            Modugno F, Schildkraut JM, Sinn HP, Staebler A, Kelemen LE, Ford
            CE, Menon U, Pharoah PDP, Kobel M and Ramus SJ.
  CONSRTM   AOCs group
  TITLE     Increased FOXJ1 protein expression is associated with improved
            overall survival in high-grade serous ovarian carcinoma: an Ovarian
            Tumor Tissue Analysis Consortium Study
  JOURNAL   Br J Cancer 128 (1), 137-147 (2023)
   PUBMED   36323878
  REMARK    GeneRIF: Increased FOXJ1 protein expression is associated with
            improved overall survival in high-grade serous ovarian carcinoma:
            an Ovarian Tumor Tissue Analysis Consortium Study.
REFERENCE   2  (residues 1 to 421)
  AUTHORS   Shapiro AJ, Kaspy K, Daniels MLA, Stonebraker JR, Nguyen VH, Joyal
            L, Knowles MR and Zariwala MA.
  TITLE     Autosomal dominant variants in FOXJ1 causing primary ciliary
            dyskinesia in two patients with obstructive hydrocephalus
  JOURNAL   Mol Genet Genomic Med 9 (7), e1726 (2021)
   PUBMED   34132502
  REMARK    GeneRIF: Autosomal dominant variants in FOXJ1 causing primary
            ciliary dyskinesia in two patients with obstructive hydrocephalus.
REFERENCE   3  (residues 1 to 421)
  AUTHORS   Koay TW, Osterhof C, Orlando IMC, Keppner A, Andre D, Yousefian S,
            Suarez Alonso M, Correia M, Markworth R, Schodel J, Hankeln T and
            Hoogewijs D.
  TITLE     Androglobin gene expression patterns and FOXJ1-dependent regulation
            indicate its functional association with ciliogenesis
  JOURNAL   J Biol Chem 296, 100291 (2021)
   PUBMED   33453283
  REMARK    GeneRIF: Androglobin gene expression patterns and FOXJ1-dependent
            regulation indicate its functional association with ciliogenesis.
REFERENCE   4  (residues 1 to 421)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 421)
  AUTHORS   Wallmeier J, Frank D, Shoemark A, Nothe-Menchen T, Cindric S,
            Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T,
            Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW,
            Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmuller
            J, Krenz H, Woste M, Brentrup A, Ahrens F, Vogelberg C,
            Morris-Rosendahl DJ and Omran H.
  TITLE     De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with
            Hydrocephalus and Randomization of Left/Right Body Asymmetry
  JOURNAL   Am J Hum Genet 105 (5), 1030-1039 (2019)
   PUBMED   31630787
  REMARK    GeneRIF: Heterozygous de novo mutations in FOXJ1.
REFERENCE   6  (residues 1 to 421)
  AUTHORS   Li CS, Chae SC, Lee JH, Zhang Q and Chung HT.
  TITLE     Identification of single nucleotide polymorphisms in FOXJ1 and
            their association with allergic rhinitis
  JOURNAL   J Hum Genet 51 (4), 292-297 (2006)
   PUBMED   16518568
  REMARK    GeneRIF: Single nucleotide polymorphisms were identified in FOXJ1
            and a significant association was found with allergic rhinitis.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 421)
  AUTHORS   Maiti AK, Bartoloni L, Mitchison HM, Meeks M, Chung E, Spiden S,
            Gehrig C, Rossier C, DeLozier-Blanchet CD, Blouin J, Gardiner RM
            and Antonarakis SE.
  TITLE     No deleterious mutations in the FOXJ1 (alias HFH-4) gene in
            patients with primary ciliary dyskinesia (PCD)
  JOURNAL   Cytogenet Cell Genet 90 (1-2), 119-122 (2000)
   PUBMED   11060460
REFERENCE   8  (residues 1 to 421)
  AUTHORS   Pelletier GJ, Brody SL, Liapis H, White RA and Hackett BP.
  TITLE     A human forkhead/winged-helix transcription factor expressed in
            developing pulmonary and renal epithelium
  JOURNAL   Am J Physiol 274 (3), L351-L359 (1998)
   PUBMED   9530170
REFERENCE   9  (residues 1 to 421)
  AUTHORS   Lim L, Zhou H and Costa RH.
  TITLE     The winged helix transcription factor HFH-4 is expressed during
            choroid plexus epithelial development in the mouse embryo
  JOURNAL   Proc Natl Acad Sci U S A 94 (7), 3094-3099 (1997)
   PUBMED   9096351
REFERENCE   10 (residues 1 to 421)
  AUTHORS   Murphy DB, Seemann S, Wiese S, Kirschner R, Grzeschik KH and Thies
            U.
  TITLE     The human hepatocyte nuclear factor 3/fork head gene FKHL13:
            genomic structure and pattern of expression
  JOURNAL   Genomics 40 (3), 462-469 (1997)
   PUBMED   9073514
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC046460.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 15, 2004 this sequence version replaced NP_001445.1.
            
            Summary: This gene encodes a member of the forkhead family of
            transcription factors. Similar genes in zebrafish and mouse have
            been shown to regulate the transcription of genes that control the
            production of motile cilia. The mouse ortholog also functions in
            the determination of left-right asymmetry. Polymorphisms in this
            gene are associated with systemic lupus erythematosus and allergic
            rhinitis.[provided by RefSeq, Sep 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC046460.1, SRR3476690.345921.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161674, SAMN03267780
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322957.7/ ENSP00000323880.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..421
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     Protein         1..421
                     /product="forkhead box protein J1"
                     /note="forkhead-like 13; forkhead transcription factor
                     HFH-4; fork head homologue 4; forkhead-related protein
                     FKHL13; hepatocyte nuclear factor 3 forkhead homolog 4"
                     /calculated_mol_wt=45116
     Region          1..34
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92949.3)"
     Region          48..116
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92949.3)"
     Region          121..199
                     /region_name="FH_FOXJ1"
                     /note="Forkhead (FH) domain found in Forkhead box protein
                     J1 (FOXJ1) and similar proteins; cd20023"
                     /db_xref="CDD:410797"
     Site            order(126,144..145,148,167..168,170..171,174,181,191..193,
                     195)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410797"
     Region          261..302
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92949.3)"
     CDS             1..421
                     /gene="FOXJ1"
                     /gene_synonym="CILD43; FKHL13; HFH-4; HFH4"
                     /coded_by="NM_001454.4:302..1567"
                     /db_xref="CCDS:CCDS32739.1"
                     /db_xref="GeneID:2302"
                     /db_xref="HGNC:HGNC:3816"
                     /db_xref="MIM:602291"
ORIGIN      
        1 maeswlrlsg agpaeeagpe ggleepdald dsltslqwlq efsilnakap alppggtdph
       61 gyhqvpgsaa pgsplaadpa clgqphtpgk ptssctsrsa ppglqapppd dvdyatnphv
      121 kppysyatli cmamqaskat kitlsaiykw itdnfcyfrh adptwqnsir hnlslnkcfi
      181 kvprekdepg kggfwridpq yaerllsgaf kkrrlppvhi hpafarqaaq epsavpragp
      241 ltvnteaqql lrefeeatge agwgagegrl ghkrkqplpk rvakvprpps tllptpeeqg
      301 eleplkgnfd weaifdagtl ggelgaleal elspplspas hvdvdltihg rhidcpatwg
      361 psveqaadsl dfdetflats flqhpwdesg sgclppeplf eagdatlasd lqdwasvgaf
      421 l
//
LOCUS       NP_001020374             240 aa            linear   PRI 07-FEB-2023
DEFINITION  splicing factor U2AF 35 kDa subunit isoform b [Homo sapiens].
ACCESSION   NP_001020374
VERSION     NP_001020374.1
DBSOURCE    REFSEQ: accession NM_001025203.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 240)
  AUTHORS   Pritzl SL, Gurney M, Badar T, Ferrer A, Lasho T, Finke C,
            Mangaonkar A, McCullough K, Gangat N, Fernandez J, Al-Kali A,
            Viswanatha D, He R, Foran J and Patnaik MM.
  TITLE     Clinical and molecular spectrum and prognostic outcomes of U2AF1
            mutant clonal hematopoiesis- a prospective mayo clinic cohort study
  JOURNAL   Leuk Res 125, 107007 (2023)
   PUBMED   36586169
  REMARK    GeneRIF: Clinical and molecular spectrum and prognostic outcomes of
            U2AF1 mutant clonal hematopoiesis- a prospective mayo clinic cohort
            study.
REFERENCE   2  (residues 1 to 240)
  AUTHORS   Komrokji R, Aguirre LE, Al Ali N, Hussaini M, Sallman D, Rollison D
            and Padron E.
  TITLE     U2AF1 and EZH2 mutations are associated with nonimmune hemolytic
            anemia in myelodysplastic syndromes
  JOURNAL   Blood Adv 7 (1), 1-8 (2023)
   PUBMED   36129843
  REMARK    GeneRIF: U2AF1 and EZH2 mutations are associated with nonimmune
            hemolytic anemia in myelodysplastic syndromes.
REFERENCE   3  (residues 1 to 240)
  AUTHORS   Chen C, Zhou P, Zhang Z and Liu Y.
  TITLE     U2AF1 mutation connects DNA damage to the alternative splicing of
            RAD51 in lung adenocarcinomas
  JOURNAL   Clin Exp Pharmacol Physiol 49 (7), 740-747 (2022)
   PUBMED   35434831
  REMARK    GeneRIF: U2AF1 mutation connects DNA damage to the alternative
            splicing of RAD51 in lung adenocarcinomas.
REFERENCE   4  (residues 1 to 240)
  AUTHORS   Biancon G, Joshi P, Zimmer JT, Hunck T, Gao Y, Lessard MD,
            Courchaine E, Barentine AES, Machyna M, Botti V, Qin A, Gbyli R,
            Patel A, Song Y, Kiefer L, Viero G, Neuenkirchen N, Lin H,
            Bewersdorf J, Simon MD, Neugebauer KM, Tebaldi T and Halene S.
  TITLE     Precision analysis of mutant U2AF1 activity reveals deployment of
            stress granules in myeloid malignancies
  JOURNAL   Mol Cell 82 (6), 1107-1122 (2022)
   PUBMED   35303483
  REMARK    GeneRIF: Precision analysis of mutant U2AF1 activity reveals
            deployment of stress granules in myeloid malignancies.
REFERENCE   5  (residues 1 to 240)
  AUTHORS   Alayed K and Meyerson HJ.
  TITLE     Decreased CD177pos neutrophils in myeloid neoplasms is associated
            with NPM1, RUNX1, TET2, and U2AF1 S34F mutations
  JOURNAL   Leuk Res 112, 106752 (2022)
   PUBMED   34896936
  REMARK    GeneRIF: Decreased CD177(pos) neutrophils in myeloid neoplasms is
            associated with NPM1, RUNX1, TET2, and U2AF1 S34F mutations.
REFERENCE   6  (residues 1 to 240)
  AUTHORS   Kalcheva I, Plass C, Sait S, Eddy R, Shows T, Watkins-Chow D,
            Camper S, Shibata H, Ueda T, Takagi N et al.
  TITLE     Comparative mapping of the imprinted U2afbpL gene on mouse
            chromosome 11 and human chromosome 5
  JOURNAL   Cytogenet Cell Genet 68 (1-2), 19-24 (1995)
   PUBMED   7956352
REFERENCE   7  (residues 1 to 240)
  AUTHORS   Wu JY and Maniatis T.
  TITLE     Specific interactions between proteins implicated in splice site
            selection and regulated alternative splicing
  JOURNAL   Cell 75 (6), 1061-1070 (1993)
   PUBMED   8261509
REFERENCE   8  (residues 1 to 240)
  AUTHORS   Zhang M, Zamore PD, Carmo-Fonseca M, Lamond AI and Green MR.
  TITLE     Cloning and intracellular localization of the U2 small nuclear
            ribonucleoprotein auxiliary factor small subunit
  JOURNAL   Proc Natl Acad Sci U S A 89 (18), 8769-8773 (1992)
   PUBMED   1388271
REFERENCE   9  (residues 1 to 240)
  AUTHORS   Zamore PD and Green MR.
  TITLE     Biochemical characterization of U2 snRNP auxiliary factor: an
            essential pre-mRNA splicing factor with a novel intranuclear
            distribution
  JOURNAL   EMBO J 10 (1), 207-214 (1991)
   PUBMED   1824937
REFERENCE   10 (residues 1 to 240)
  AUTHORS   Zamore PD and Green MR.
  TITLE     Identification, purification, and biochemical characterization of
            U2 small nuclear ribonucleoprotein auxiliary factor
  JOURNAL   Proc Natl Acad Sci U S A 86 (23), 9243-9247 (1989)
   PUBMED   2531895
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB110007.1, AJ627978.1 and
            AF370386.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene belongs to the splicing factor SR family of
            genes. U2 auxiliary factor, comprising a large and a small subunit,
            is a non-snRNP protein required for the binding of U2 snRNP to the
            pre-mRNA branch site. This gene encodes the small subunit which
            plays a critical role in both constitutive and enhancer-dependent
            RNA splicing by directly mediating interactions between the large
            subunit and proteins bound to the enhancers. Alternatively spliced
            transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (b) lacks an in-frame segment of
            the coding region, compared to variant c. The resulting isoform (b)
            has a longer N-terminus when compared to isoform c.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.452719.1, CX163506.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..240
                     /product="splicing factor U2AF 35 kDa subunit isoform b"
                     /note="splicing factor U2AF 35kDa subunit; U2(RNU2) small
                     nuclear RNA auxiliary factor binding protein; U2 snRNP
                     auxiliary factor small subunit; U2 small nuclear
                     ribonucleoprotein auxillary factor, 35-KD subunit; U2
                     small nuclear RNA auxillary factor 1"
                     /calculated_mol_wt=27751
     Region          13..39
                     /region_name="zf-CCCH"
                     /note="Zinc finger C-x8-C-x5-C-x3-H type (and similar);
                     pfam00642"
                     /db_xref="CDD:425793"
     Region          43..146
                     /region_name="RRM_U2AF35"
                     /note="RNA recognition motif (RRM) found in U2 small
                     nuclear ribonucleoprotein auxiliary factor U2AF 35 kDa
                     subunit (U2AF35); cd12538"
                     /db_xref="CDD:409954"
     Site            order(77,80..81,84..85,88..89,130..141)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:409954"
     Region          149..175
                     /region_name="zf-CCCH"
                     /note="Zinc finger C-x8-C-x5-C-x3-H type (and similar);
                     pfam00642"
                     /db_xref="CDD:425793"
     CDS             1..240
                     /gene="U2AF1"
                     /gene_synonym="FP793; RN; RNU2AF1; U2AF35; U2AFBP"
                     /coded_by="NM_001025203.1:85..807"
                     /note="isoform b is encoded by transcript variant b"
                     /db_xref="CCDS:CCDS33574.1"
                     /db_xref="GeneID:7307"
                     /db_xref="HGNC:HGNC:12453"
                     /db_xref="MIM:191317"
ORIGIN      
        1 maeylasifg tekdkvncsf yfkigacrhg drcsrlhnkp tfsqtiliqn iyrnpqnsaq
       61 tadgshcavs dvemqehyde ffeevfteme ekygeveemn vcdnlgdhlv gnvyvkfrre
      121 edaekavidl nnrwfngqpi haelspvtdf reaccrqyem gectrggfcn fmhlkpisre
      181 lrrelygrrr kkhrsrsrsr errsrsrdrg rggggggggg gggrerdrrr srdrersgrf
//
LOCUS       NP_001376627             996 aa            linear   PRI 12-FEB-2023
DEFINITION  golgin subfamily A member 2 isoform 6 [Homo sapiens].
ACCESSION   NP_001376627
VERSION     NP_001376627.2
DBSOURCE    REFSEQ: accession NM_001389698.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 996)
  AUTHORS   Li L, Chen Y, Liao W, Yu Q, Lin H, Shi Y, Zhang L, Fu G, Wang Z, Li
            X, Kong X, Zhou T and Qin L.
  TITLE     Associations of IFT20 and GM130 protein expressions with
            clinicopathological features and survival of patients with lung
            adenocarcinoma
  JOURNAL   BMC Cancer 22 (1), 809 (2022)
   PUBMED   35869490
  REMARK    GeneRIF: Associations of IFT20 and GM130 protein expressions with
            clinicopathological features and survival of patients with lung
            adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 996)
  AUTHORS   Kotecha U, Mistri M, Shah N, Shah PS and Gupta VA.
  TITLE     Bi-allelic loss of function variants in GOLGA2 are associated with
            a complex neurological phenotype: Report of a second family
  JOURNAL   Clin Genet 100 (6), 748-751 (2021)
   PUBMED   34424553
  REMARK    GeneRIF: Bi-allelic loss of function variants in GOLGA2 are
            associated with a complex neurological phenotype: Report of a
            second family.
REFERENCE   3  (residues 1 to 996)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 996)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   5  (residues 1 to 996)
  AUTHORS   Cheng PW, Davidson S and Bhat G.
  TITLE     Markers of malignant prostate cancer cells: Golgi localization of
            alpha-mannosidase 1A at GM130-GRASP65 site and appearance of high
            mannose N-glycans on cell surface
  JOURNAL   Biochem Biophys Res Commun 527 (2), 406-410 (2020)
   PUBMED   32331836
  REMARK    GeneRIF: Markers of malignant prostate cancer cells: Golgi
            localization of alpha-mannosidase 1A at GM130-GRASP65 site and
            appearance of high mannose N-glycans on cell surface.
REFERENCE   6  (residues 1 to 996)
  AUTHORS   Sohda M, Misumi Y, Yano A, Takami N and Ikehara Y.
  TITLE     Phosphorylation of the vesicle docking protein p115 regulates its
            association with the Golgi membrane
  JOURNAL   J Biol Chem 273 (9), 5385-5388 (1998)
   PUBMED   9478999
REFERENCE   7  (residues 1 to 996)
  AUTHORS   Barr FA, Puype M, Vandekerckhove J and Warren G.
  TITLE     GRASP65, a protein involved in the stacking of Golgi cisternae
  JOURNAL   Cell 91 (2), 253-262 (1997)
   PUBMED   9346242
REFERENCE   8  (residues 1 to 996)
  AUTHORS   Nakamura N, Lowe M, Levine TP, Rabouille C and Warren G.
  TITLE     The vesicle docking protein p115 binds GM130, a cis-Golgi matrix
            protein, in a mitotically regulated manner
  JOURNAL   Cell 89 (3), 445-455 (1997)
   PUBMED   9150144
REFERENCE   9  (residues 1 to 996)
  AUTHORS   Nakamura N, Rabouille C, Watson R, Nilsson T, Hui N, Slusarewicz P,
            Kreis TE and Warren G.
  TITLE     Characterization of a cis-Golgi matrix protein, GM130
  JOURNAL   J Cell Biol 131 (6 Pt 2), 1715-1726 (1995)
   PUBMED   8557739
REFERENCE   10 (residues 1 to 996)
  AUTHORS   Fritzler MJ, Hamel JC, Ochs RL and Chan EK.
  TITLE     Molecular characterization of two human autoantigens: unique cDNAs
            encoding 95- and 160-kD proteins of a putative family in the Golgi
            complex
  JOURNAL   J Exp Med 178 (1), 49-62 (1993)
   PUBMED   8315394
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590708.18.
            On Jan 13, 2021 this sequence version replaced NP_001376627.1.
            
            Summary: The Golgi apparatus, which participates in glycosylation
            and transport of proteins and lipids in the secretory pathway,
            consists of a series of stacked cisternae (flattened membrane
            sacs). Interactions between the Golgi and microtubules are thought
            to be important for the reorganization of the Golgi after it
            fragments during mitosis. This gene encodes one of the golgins, a
            family of proteins localized to the Golgi. This encoded protein has
            been postulated to play roles in the stacking of Golgi cisternae
            and in vesicular transport. Several alternatively spliced
            transcript variants of this gene have been described, but the
            full-length nature of these variants has not been determined.
            [provided by RefSeq, Feb 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2956366.1,
                                           SRR14038193.2787096.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..996
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     Protein         1..996
                     /product="golgin subfamily A member 2 isoform 6"
                     /note="golgi autoantigen, golgin subfamily a, 2; Golgi
                     matrix protein GM130; SY11 protein; golgin subfamily A
                     member 2; golgin-95; GM130 autoantigen; 130 kDa cis-Golgi
                     matrix protein"
                     /calculated_mol_wt=112303
     Region          <187..554
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          381..902
                     /region_name="GOLGA2L5"
                     /note="Putative golgin subfamily A member 2-like protein
                     5; pfam15070"
                     /db_xref="CDD:434436"
     Region          947..992
                     /region_name="GM130_C"
                     /note="GM130 C-terminal binding motif; pfam19046"
                     /db_xref="CDD:436918"
     CDS             1..996
                     /gene="GOLGA2"
                     /gene_synonym="DEDHMB; GM130"
                     /coded_by="NM_001389698.2:32..3022"
                     /note="isoform 6 is encoded by transcript variant 7"
                     /db_xref="GeneID:2801"
                     /db_xref="HGNC:HGNC:4425"
                     /db_xref="MIM:602580"
ORIGIN      
        1 mwpqprlppr pamseetrqs klaaakkklr eyqqrnspgv ptgakkkkki kngsnpettt
       61 sggchspedi qdilkvlvsd lnrsngvalp pldkwktpkd naatlqpsdd tvlpggvpsp
      121 gasltsmaas qnhdadnvpn lmdetktfss teslrqlsqq lnglvcesat cvngegpass
      181 anlkdlekqq nqeitdqlee ekkechqkqg alreqlqvhi qtigilvsek aelqtalaht
      241 qhaarqkege sedlasrlqy srrrvgeler alsavstqqk kadrynkelt kerdalrlel
      301 ykntqsnedl kqekseleek lrvlvtekag mqlnleelqk klemtelllq qfssrceapd
      361 anqqlqqame eraqleahlg qvmesvrqlq merdkyaenl kgesamwrqr mqqmseqvht
      421 lreekecsms rvqeletsla elrnqmeppa gpseveqqlq aeaehlrkel eglagqlqaq
      481 vqdneglsrl nreqeerlle leraaelwge qaearrqile tmqndrttis ralsqnrelk
      541 eqlaelqsgf vkltnenmei tsalqseqhv krelgkklge lqeklselke tvelksqeaq
      601 slqqqrdqyl ghlqqyvaay qqltsekevl hnqlllqtql vdqlqqqeaq gkavaemarq
      661 elqetqerle aatqqnqqlr aqlslmahpg egdgldreee edeeeeeeea vavpqpmpsi
      721 pedlesream vaffnsavas aeeeqarlrg qlkeqrvrcr rlahllasaq kepeaaapap
      781 gtggdsvcge thralqgame klqsrfmelm qekadlkerv eelehrciql sgetdtigey
      841 ialyqsqrav lkerhrekee yisrlaqdke emkvkllelq elvlrlvgdr newhgrflaa
      901 aqnpadepts gapapqelga anqqgdlcev slagsvepaq gearegsprd nptaqqimql
      961 lremqnprer pglgsnpcip ffyradende vkitvi
//
LOCUS       NP_001310000             746 aa            linear   PRI 12-FEB-2023
DEFINITION  ATP-dependent 6-phosphofructokinase, platelet type isoform 7 [Homo
            sapiens].
ACCESSION   NP_001310000
VERSION     NP_001310000.1
DBSOURCE    REFSEQ: accession NM_001323071.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 746)
  AUTHORS   Lee JH.
  TITLE     Phosphofructokinase 1 Platelet Isoform Enhances VEGF Expression in
            Part Through HIF-1alpha Up-regulation in Breast Cancer
  JOURNAL   Anticancer Res 43 (1), 75-84 (2023)
   PUBMED   36585185
  REMARK    GeneRIF: Phosphofructokinase 1 Platelet Isoform Enhances VEGF
            Expression in Part Through HIF-1alpha Up-regulation in Breast
            Cancer.
REFERENCE   2  (residues 1 to 746)
  AUTHORS   Wang S, Park SH, Lim JS, Park YY, Du L and Lee JH.
  TITLE     Phosphofructokinase 1 platelet isoform induces PD-L1 expression to
            promote glioblastoma immune evasion
  JOURNAL   Genes Genomics 44 (12), 1509-1517 (2022)
   PUBMED   35917090
  REMARK    GeneRIF: Phosphofructokinase 1 platelet isoform induces PD-L1
            expression to promote glioblastoma immune evasion.
REFERENCE   3  (residues 1 to 746)
  AUTHORS   Lim JS, Shi Y, Park SH, Jeon SM, Zhang C, Park YY, Liu R, Li J, Cho
            WS, Du L and Lee JH.
  TITLE     Mutual regulation between phosphofructokinase 1 platelet isoform
            and VEGF promotes glioblastoma tumor growth
  JOURNAL   Cell Death Dis 13 (11), 1002 (2022)
   PUBMED   36435833
  REMARK    GeneRIF: Mutual regulation between phosphofructokinase 1 platelet
            isoform and VEGF promotes glioblastoma tumor growth.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 746)
  AUTHORS   Zhang Z, Liang W, Luo Q, Hu H, Yang K, Hu J, Chen Z, Zhu J, Feng J,
            Zhu Z, Chi Q and Ding G.
  TITLE     PFKP Activation Ameliorates Foot Process Fusion in Podocytes in
            Diabetic Kidney Disease
  JOURNAL   Front Endocrinol (Lausanne) 12, 797025 (2022)
   PUBMED   35095764
  REMARK    GeneRIF: PFKP Activation Ameliorates Foot Process Fusion in
            Podocytes in Diabetic Kidney Disease.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 746)
  AUTHORS   Webb BA, Forouhar F, Szu FE, Seetharaman J, Tong L and Barber DL.
  TITLE     Structures of human phosphofructokinase-1 and atomic basis of
            cancer-associated mutations
  JOURNAL   Nature 523 (7558), 111-114 (2015)
   PUBMED   25985179
REFERENCE   6  (residues 1 to 746)
  AUTHORS   Moon JS, Kim HE, Koh E, Park SH, Jin WJ, Park BW, Park SW and Kim
            KS.
  TITLE     Kruppel-like factor 4 (KLF4) activates the transcription of the
            gene for the platelet isoform of phosphofructokinase (PFKP) in
            breast cancer
  JOURNAL   J Biol Chem 286 (27), 23808-23816 (2011)
   PUBMED   21586797
  REMARK    GeneRIF: KLF4 plays a role in maintenance of high glycolytic
            metabolism by transcriptional activation of the PFKP gene in breast
            cancer cells.
REFERENCE   7  (residues 1 to 746)
  AUTHORS   Morrison N, Simpson C, Fothergill-Gilmore L, Boyd E and Connor JM.
  TITLE     Regional chromosomal assignment of the human platelet
            phosphofructokinase gene to 10p15
  JOURNAL   Hum Genet 89 (1), 105-106 (1992)
   PUBMED   1533608
REFERENCE   8  (residues 1 to 746)
  AUTHORS   Simpson CJ and Fothergill-Gilmore LA.
  TITLE     Isolation and sequence of a cDNA encoding human platelet
            phosphofructokinase
  JOURNAL   Biochem Biophys Res Commun 180 (1), 197-203 (1991)
   PUBMED   1834056
REFERENCE   9  (residues 1 to 746)
  AUTHORS   Meienhofer,M.C., Lagrange,J.L., Cottreau,D., Lenoir,G.,
            Dreyfus,J.C. and Kahn,A.
  TITLE     Phosphofructokinase in human blood cells
  JOURNAL   Blood 54 (2), 389-400 (1979)
   PUBMED   156568
REFERENCE   10 (residues 1 to 746)
  AUTHORS   Kahn,A., Meienhofer,M.C., Cottreau,D., Lagrange,J.L. and
            Dreyfus,J.C.
  TITLE     Phosphofructokinase (PFK) isozymes in man. I. Studies of adult
            human tissues
  JOURNAL   Hum Genet 48 (1), 93-108 (1979)
   PUBMED   156693
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL731533.8, KF455188.1 and
            AL451164.13.
            
            Summary: This gene encodes a member of the phosphofructokinase A
            protein family. The encoded enzyme is the platelet-specific isoform
            of phosphofructokinase and plays a key role in glycolysis
            regulation. This gene may play a role in metabolic reprogramming in
            some cancers, including clear cell renal cell carcinomas, and
            cancer of the bladder, breast, and lung. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Sep
            2016].
            
            Transcript Variant: This variant (7) and variants 8 and 11 all
            encode isoform 7.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.132943.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2151119
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..746
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p15.2"
     Protein         1..746
                     /product="ATP-dependent 6-phosphofructokinase, platelet
                     type isoform 7"
                     /EC_number="2.7.1.11"
                     /note="6-phosphofructokinase type C; phosphohexokinase;
                     phosphofructokinase 1; phosphofructo-1-kinase isozyme C;
                     6-phosphofructokinase, platelet type; ATP-dependent
                     6-phosphofructokinase, platelet type"
                     /calculated_mol_wt=81669
     Region          1..745
                     /region_name="Eukaryotic_PFK"
                     /note="Phosphofructokinase, a key regulatory enzyme in
                     glycolysis, catalyzes the phosphorylation of
                     fructose-6-phosphate to fructose-1,6-biphosphate. The
                     members belong to a subfamily of the PFKA family (cd00363)
                     and include eukaryotic ATP-dependent...; cd00764"
                     /db_xref="CDD:238389"
     CDS             1..746
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /coded_by="NM_001323071.2:279..2519"
                     /note="isoform 7 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS91203.1"
                     /db_xref="GeneID:5214"
                     /db_xref="HGNC:HGNC:8878"
                     /db_xref="MIM:171840"
ORIGIN      
        1 mnaavravvr mgiyvgakvy fiyegyqgmv dggsniaead wesvssilqv ggtiigsarc
       61 qafrtregrl kaacnllqrg itnlcviggd gsltganlfr kewsglleel arngqidkea
      121 vqkyaylnvv gmvgsidndf cgtdmtigtd salhriievv daimttaqsh qrtfvlevmg
      181 rhcgylalvs alacgadwvf lpesppeegw eeqmcvklse nrarkkrlni iivaegaidt
      241 qnkpitseki kelvvtqlgy dtrvtilghv qrggtpsafd rilasrmgve avialleatp
      301 dtpacvvsln gnhavrlplm ecvqmtqdvq kamderrfqd avrlrgrsfa gnlntykrla
      361 iklpddqipk tncnvavinv gapaagmnaa vrsavrvgia dghrmlaiyd gfdgfakgqi
      421 keigwtdvgg wtgqggsilg tkrvlpgkyl eeiatqmrth sinalliigg feaylgllel
      481 saarekheef cvpmvmvpat vsnnvpgsdf sigadtalnt itdtcdrikq sasgtkrrvf
      541 iietmggycg ylanmgglaa gadaayifee pfdirdlqsn vehltekmkt tiqrglvlrn
      601 escsenyttd fiyqlyseeg kgvfdcrknv lghmqqggap spfdrnfgtk isaramewit
      661 aklkeargrg kkfttddsic vlgiskrnvi fqpvaelkkq tdfehripke qwwlklrplm
      721 kilakykasy dvsdsgqleh vqpwsv
//
LOCUS       NP_001359021            1351 aa            linear   PRI 14-FEB-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 47 isoform e [Homo sapiens].
ACCESSION   NP_001359021
VERSION     NP_001359021.1
DBSOURCE    REFSEQ: accession NM_001372092.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1351)
  AUTHORS   Kassel S, Hanson AJ, Benchabane H, Saito-Diaz K, Cabel CR,
            Goldsmith L, Taha M, Kanuganti A, Ng VH, Xu G, Ye F, Picker J, Port
            F, Boutros M, Weiss VL, Robbins DJ, Thorne CA, Ahmed Y and Lee E.
  TITLE     USP47 deubiquitylates Groucho/TLE to promote Wnt-beta-catenin
            signaling
  JOURNAL   Sci Signal 16 (771), eabn8372 (2023)
   PUBMED   36749823
  REMARK    GeneRIF: USP47 deubiquitylates Groucho/TLE to promote
            Wnt-beta-catenin signaling.
REFERENCE   2  (residues 1 to 1351)
  AUTHORS   Yu L, Fu J and Shen C.
  TITLE     Ubiquitin specific peptidase 47 promotes proliferation of lung
            squamous cell carcinoma
  JOURNAL   Genes Genomics 44 (6), 721-731 (2022)
   PUBMED   35254655
  REMARK    GeneRIF: Ubiquitin specific peptidase 47 promotes proliferation of
            lung squamous cell carcinoma.
REFERENCE   3  (residues 1 to 1351)
  AUTHORS   Zhang S, Ju X, Yang Q, Zhu Y, Fan D, Su G, Kong L and Li Y.
  TITLE     USP47 maintains the stemness of colorectal cancer cells and is
            inhibited by parthenolide
  JOURNAL   Biochem Biophys Res Commun 562, 21-28 (2021)
   PUBMED   34030041
  REMARK    GeneRIF: USP47 maintains the stemness of colorectal cancer cells
            and is inhibited by parthenolide.
REFERENCE   4  (residues 1 to 1351)
  AUTHORS   Lei H, Xu HZ, Shan HZ, Liu M, Lu Y, Fang ZX, Jin J, Jing B, Xiao
            XH, Gao SM, Gao FH, Xia L, Yang L, Liu LG, Wang WW, Liu CX, Tong Y,
            Wu YZ, Zheng JK, Chen GQ, Zhou L and Wu YL.
  TITLE     Targeting USP47 overcomes tyrosine kinase inhibitor resistance and
            eradicates leukemia stem/progenitor cells in chronic myelogenous
            leukemia
  JOURNAL   Nat Commun 12 (1), 51 (2021)
   PUBMED   33397955
  REMARK    GeneRIF: Targeting USP47 overcomes tyrosine kinase inhibitor
            resistance and eradicates leukemia stem/progenitor cells in chronic
            myelogenous leukemia.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1351)
  AUTHORS   Zhang S, Ding L, Gao F and Fan H.
  TITLE     Long non-coding RNA DSCAM-AS1 upregulates USP47 expression through
            sponging miR-101-3p to accelerate osteosarcoma progression
  JOURNAL   Biochem Cell Biol 98 (5), 600-611 (2020)
   PUBMED   32379981
  REMARK    GeneRIF: Long non-coding RNA DSCAM-AS1 upregulates USP47 expression
            through sponging miR-101-3p to accelerate osteosarcoma progression.
            Erratum:[Biochem Cell Biol. 2021 Apr;99(2):272-273. PMID: 33779298]
REFERENCE   6  (residues 1 to 1351)
  AUTHORS   Yang SW, Oh KH, Park E, Chang HM, Park JM, Seong MW, Ka SH, Song
            WK, Park DE, Baas PW, Jeon YJ and Chung CH.
  TITLE     USP47 and C terminus of Hsp70-interacting protein (CHIP)
            antagonistically regulate katanin-p60-mediated axonal growth
  JOURNAL   J Neurosci 33 (31), 12728-12738 (2013)
   PUBMED   23904609
  REMARK    GeneRIF: The results of this study indicated that USP47 plays a
            crucial role in the control of axonal growth during neuronal
            development by antagonizing CHIP-mediated katanin-p60 degradation.
REFERENCE   7  (residues 1 to 1351)
  AUTHORS   Parsons JL, Dianova II, Khoronenkova SV, Edelmann MJ, Kessler BM
            and Dianov GL.
  TITLE     USP47 is a deubiquitylating enzyme that regulates base excision
            repair by controlling steady-state levels of DNA polymerase beta
  JOURNAL   Mol Cell 41 (5), 609-615 (2011)
   PUBMED   21362556
  REMARK    GeneRIF: USP47 has a role in regulating DNA repair and maintaining
            genome integrity
REFERENCE   8  (residues 1 to 1351)
  AUTHORS   Peschiaroli A, Skaar JR, Pagano M and Melino G.
  TITLE     The ubiquitin-specific protease USP47 is a novel beta-TRCP
            interactor regulating cell survival
  JOURNAL   Oncogene 29 (9), 1384-1393 (2010)
   PUBMED   19966869
  REMARK    GeneRIF: USP47, a novel beta-Trcp interactor, regulates cell growth
            and survival, potentially providing a novel target for anticancer
            therapies.
REFERENCE   9  (residues 1 to 1351)
  AUTHORS   Quesada V, Diaz-Perales A, Gutierrez-Fernandez A, Garabaya C, Cal S
            and Lopez-Otin C.
  TITLE     Cloning and enzymatic analysis of 22 novel human ubiquitin-specific
            proteases
  JOURNAL   Biochem Biophys Res Commun 314 (1), 54-62 (2004)
   PUBMED   14715245
REFERENCE   10 (residues 1 to 1351)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104383.4 and AC124276.5.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.1832986.1,
                                           SRR1803614.104448.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1351
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.3"
     Protein         1..1351
                     /product="ubiquitin carboxyl-terminal hydrolase 47 isoform
                     e"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin carboxyl-terminal hydrolase 47; ubiquitin
                     thioesterase 47; deubiquitinating enzyme 47;
                     ubiquitin-specific-processing protease 47; ubiquitin
                     thiolesterase 47; Trf (TATA binding protein-related
                     factor)-proximal homolog"
                     /calculated_mol_wt=154126
     Site            102
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q96K76.3)"
     Region          166..542
                     /region_name="peptidase_C19C"
                     /note="A subfamily of Peptidase C19. Peptidase C19
                     contains ubiquitinyl hydrolases. They are intracellular
                     peptidases that remove ubiquitin molecules from
                     polyubiquinated peptides by cleavage of isopeptide bonds.
                     They hydrolyze bonds involving the carboxyl...; cd02659"
                     /db_xref="CDD:239124"
     Site            order(172,177,479,497)
                     /site_type="active"
                     /db_xref="CDD:239124"
     Site            808
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96K76.3)"
     Region          816..835
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96K76.3)"
     Region          856..944
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96K76.3)"
     Site            886
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96K76.3)"
     Site            909
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96K76.3)"
     Region          959..1000
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96K76.3)"
     Site            989
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96K76.3)"
     Site            991
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96K76.3)"
     Site            993
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96K76.3)"
     Region          1100..1339
                     /region_name="USP47_C"
                     /note="Ubiquitin carboxyl-terminal hydrolase 47
                     C-terminal; pfam19718"
                     /db_xref="CDD:437550"
     CDS             1..1351
                     /gene="USP47"
                     /gene_synonym="TRFP"
                     /coded_by="NM_001372092.1:215..4270"
                     /note="isoform e is encoded by transcript variant 5"
                     /db_xref="GeneID:55031"
                     /db_xref="HGNC:HGNC:20076"
                     /db_xref="MIM:614460"
ORIGIN      
        1 mvpgeenqlv pkeienaaee prvlciiqdt tnsktvneri tlnlpastpv rklfedvank
       61 vgyingtfdl vwgngintad mapldhtsdk slldanfepg kknflhltdk dgeqpqille
      121 dssagedsvh drfigplpre gsggstsdyv sqsysyssil nksetgyvgl vnqamtcyln
      181 sllqtlfmtp efrnalykwe feeseedpvt sipyqlqrlf vllqtskkra iettdvtrsf
      241 gwdsseawqq hdvqelcrvm fdaleqkwkq teqadlinel yqgklkdyvr clecgyegwr
      301 idtyldiplv irpygssqaf asveealhaf iqpeildgpn qyfcerckkk cdarkglrfl
      361 hfpylltlql krfdfdyttm hriklndrmt fpeeldmstf idvedetesc tdsgaenegs
      421 chsdqmsndf snddgvdegi cletnsgtek isksglekns liyelfsvmv hsgsaagghy
      481 yaciksfsde qwysfndqhv sritqedikk thggssgsrg yyssafasst naymliyrlk
      541 dparnakfle vdeypehikn lvqkerelee qekrqreier ntckiklfcl hptkqvmmen
      601 klevhkdktl keavemaykm mdleevipld ccrlvkydef hdylersyeg eedtpmglll
      661 ggvkstymfd llletrkpdq vfqsykpgev mvkvhvvdlk aesvaapitv raylnqtvte
      721 fkqliskaih lpaetmrivl ercyndlrll svssktlkae gffrsnkvfv essetldyqm
      781 afadshlwkl ldrhantirl fvllpeqspv syskrtayqk aggdsgnvdd dcervkgpvg
      841 slksveaile esteklksls lqqqqdgdng dsskstetsd feniesplne rdssasvdnr
      901 eleqhiqtsd penfqseers dsdvnndrst ssvdsdilss shssdtlcna dnaqiplang
      961 ldshsitssr rtkanegkke twdtaeedsg tdseydesgk srgemqymyf kaepyaadeg
     1021 sgeghkwlmv hvdkritlaa fkqhlepfvg vlsshfkvfr vyasnqefes vrlnetlssf
     1081 sddnkitirl gralkkgeyr vkvyqllvne qepckfllda vfakgmtvrq skeelipqlr
     1141 eqcglelsid rfrlrkktwk npgtvfldyh iyeediniss nwevflevld gvekmksmsq
     1201 lavlsrrwkp semkldpfqe vvlesssvde lreklseisg iplddiefak grgtfpcdis
     1261 vldihqdldw npkvstlnvw plyicddgav ifyrdkteel meltdeqrne lmkkessrlq
     1321 ktghrvtysp rkekalkiyl dgapnkdltq d
//
LOCUS       NP_002193                349 aa            linear   PRI 12-MAR-2023
DEFINITION  insulin gene enhancer protein ISL-1 [Homo sapiens].
ACCESSION   NP_002193
VERSION     NP_002193.2
DBSOURCE    REFSEQ: accession NM_002202.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 349)
  AUTHORS   Yin XY, Chen HX, Chen Z, Yang Q, Han J and He GW.
  TITLE     Genetic Variants of ISL1 Gene Promoter Identified from Congenital
            Tetralogy of Fallot Patients Alter Cellular Function Forming
            Disease Basis
  JOURNAL   Biomolecules 13 (2), 358 (2023)
   PUBMED   36830727
  REMARK    GeneRIF: Genetic Variants of ISL1 Gene Promoter Identified from
            Congenital Tetralogy of Fallot Patients Alter Cellular Function
            Forming Disease Basis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 349)
  AUTHORS   Yin XY, Chen HX, Chen Z, Yang Q, Han J and He GW.
  TITLE     Identification and functional analysis of genetic variants of ISL1
            gene promoter in human atrial septal defects
  JOURNAL   J Gene Med 24 (12), e3450 (2022)
   PUBMED   36170181
  REMARK    GeneRIF: Identification and functional analysis of genetic variants
            of ISL1 gene promoter in human atrial septal defects.
REFERENCE   3  (residues 1 to 349)
  AUTHORS   Liu Y, Luan Y, Ma K, Zhang Z, Liu Y and Chen X.
  TITLE     ISL1 Promotes Human Glioblastoma-Derived Stem Cells' Self-Renewal
            by Activation of Sonic Hedgehog/GLI1 Function
  JOURNAL   Stem Cells Dev 31 (9-10), 258-268 (2022)
   PUBMED   35403434
  REMARK    GeneRIF: ISL1 Promotes Human Glioblastoma-Derived Stem Cells'
            Self-Renewal by Activation of Sonic Hedgehog/GLI1 Function.
REFERENCE   4  (residues 1 to 349)
  AUTHORS   Yari H, Shabani S, Nafissi N, Majidzadeh T and Mahjoubi F.
  TITLE     Investigation of promoter methylation patterns association with
            genes expression profile of ISL1, MGMT and DMNT3b in tissue of
            breast cancer patients
  JOURNAL   Mol Biol Rep 49 (2), 847-857 (2022)
   PUBMED   34997427
  REMARK    GeneRIF: Investigation of promoter methylation patterns association
            with genes expression profile of ISL1, MGMT and DMNT3b in tissue of
            breast cancer patients.
REFERENCE   5  (residues 1 to 349)
  AUTHORS   Choi JD, Kim TJ, Jeong BC, Jeon HG, Jeon SS, Kang MY, Yeom SY and
            Seo SI.
  TITLE     ISL1 promotes enzalutamide resistance in castration-resistant
            prostate cancer (CRPC) through epithelial to mesenchymal transition
            (EMT)
  JOURNAL   Sci Rep 11 (1), 21984 (2021)
   PUBMED   34753990
  REMARK    GeneRIF: ISL1 promotes enzalutamide resistance in
            castration-resistant prostate cancer (CRPC) through epithelial to
            mesenchymal transition (EMT).
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 349)
  AUTHORS   Pfaff SL, Mendelsohn M, Stewart CL, Edlund T and Jessell TM.
  TITLE     Requirement for LIM homeobox gene Isl1 in motor neuron generation
            reveals a motor neuron-dependent step in interneuron
            differentiation
  JOURNAL   Cell 84 (2), 309-320 (1996)
   PUBMED   8565076
REFERENCE   7  (residues 1 to 349)
  AUTHORS   Riggs AC, Tanizawa Y, Aoki M, Wasson J, Ferrer J, Rabin DU,
            Vaxillaire M, Froguel P and Permutt MA.
  TITLE     Characterization of the LIM/homeodomain gene islet-1 and single
            nucleotide screening in NIDDM
  JOURNAL   Diabetes 44 (6), 689-694 (1995)
   PUBMED   7789634
REFERENCE   8  (residues 1 to 349)
  AUTHORS   Tanizawa Y, Riggs AC, Dagogo-Jack S, Vaxillaire M, Froguel P, Liu
            L, Donis-Keller H and Permutt MA.
  TITLE     Isolation of the human LIM/homeodomain gene islet-1 and
            identification of a simple sequence repeat polymorphism [corrected]
  JOURNAL   Diabetes 43 (7), 935-941 (1994)
   PUBMED   7912209
  REMARK    Erratum:[Diabetes 1994 Sep;43(9):1171]
REFERENCE   9  (residues 1 to 349)
  AUTHORS   Wang M and Drucker DJ.
  TITLE     The LIM domain homeobox gene isl-1: conservation of human, hamster,
            and rat complementary deoxyribonucleic acid sequences and
            expression in cell types of nonneuroendocrine lineage
  JOURNAL   Endocrinology 134 (3), 1416-1422 (1994)
   PUBMED   7907017
REFERENCE   10 (residues 1 to 349)
  AUTHORS   Dong J, Asa SL and Drucker DJ.
  TITLE     Islet cell and extrapancreatic expression of the LIM domain
            homeobox gene isl-1
  JOURNAL   Mol Endocrinol 5 (11), 1633-1641 (1991)
   PUBMED   1685766
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010478.5, BC031213.1,
            BC017027.1 and BM680522.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 28, 2006 this sequence version replaced NP_002193.1.
            
            Summary: This gene encodes a member of the LIM/homeodomain family
            of transcription factors. The encoded protein binds to the enhancer
            region of the insulin gene, among others, and may play an important
            role in regulating insulin gene expression. The encoded protein is
            central to the development of pancreatic cell lineages and may also
            be required for motor neuron generation. Mutations in this gene
            have been associated with maturity-onset diabetes of the young.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U07559.1, BC031213.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000230658.12/ ENSP00000230658.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..349
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q11.1"
     Protein         1..349
                     /product="insulin gene enhancer protein ISL-1"
                     /note="islet-1"
                     /calculated_mol_wt=38905
     Region          17..71
                     /region_name="LIM1_Isl"
                     /note="The first LIM domain of Isl, a member of LHX
                     protein family; cd09366"
                     /db_xref="CDD:188752"
     Site            order(17,20,39,42,45,48,67,70)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188752"
     Region          20..73
                     /region_name="LIM domain"
     Region          79..133
                     /region_name="LIM2_Isl"
                     /note="The second LIM domain of Isl, a member of LHX
                     protein family; cd09374"
                     /db_xref="CDD:188760"
     Site            order(79,82,101,104,107,110,129,132)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188760"
     Region          82..136
                     /region_name="LIM domain"
     Region          181..237
                     /region_name="HOX"
                     /note="Homeodomain; smart00389"
                     /db_xref="CDD:197696"
     Site            order(183..186,188,205,211,224,226..227,230..231,233..235,
                     237..238)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          184..243
                     /region_name="Homeodomain"
     Site            order(184,187,227,230..231,234)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          262..291
                     /region_name="LIM-binding domain (LID).
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P61371.1)"
     Region          312..349
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P61371.1)"
     CDS             1..349
                     /gene="ISL1"
                     /gene_synonym="Isl-1; ISLET1"
                     /coded_by="NM_002202.3:225..1274"
                     /db_xref="CCDS:CCDS43314.1"
                     /db_xref="GeneID:3670"
                     /db_xref="HGNC:HGNC:6132"
                     /db_xref="MIM:600366"
ORIGIN      
        1 mgdmgdppkk krlislcvgc gnqihdqyil rvspdlewha aclkcaecnq yldesctcfv
       61 rdgktyckrd yirlygikca kcsigfsknd fvmrarskvy hiecfrcvac srqlipgdef
      121 alredglfcr adhdvveras lgagdplspl hparplqmaa episarqpal rphvhkqpek
      181 ttrvrtvlne kqlhtlrtcy aanprpdalm keqlvemtgl sprvirvwfq nkrckdkkrs
      241 immkqlqqqq pndktniqgm tgtpmvaasp erhdgglqan pvevqsyqpp wkvlsdfalq
      301 sdidqpafqq lvnfseggpg snstgsevas mssqlpdtpn smvaspiea
//
LOCUS       NP_001356490             174 aa            linear   PRI 14-MAR-2023
DEFINITION  60S ribosomal protein L17 isoform d [Homo sapiens].
ACCESSION   NP_001356490
VERSION     NP_001356490.1
DBSOURCE    REFSEQ: accession NM_001369561.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 174)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before
            and after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 174)
  AUTHORS   Hori H, Nakamura S, Yoshida F, Teraishi T, Sasayama D, Ota M,
            Hattori K, Kim Y, Higuchi T and Kunugi H.
  TITLE     Integrated profiling of phenotype and blood transcriptome for
            stress vulnerability and depression
  JOURNAL   J Psychiatr Res 104, 202-210 (2018)
   PUBMED   30103068
  REMARK    GeneRIF: The present study combines an individual-based phenotypic
            profiling with a transdiagnostic approach and shows that several
            ribosomal genes including RPL17 is involved in stress vulnerability
            across nonclinical and clinical conditions.
REFERENCE   3  (residues 1 to 174)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   4  (residues 1 to 174)
  AUTHORS   Jefferson M, Donaszi-Ivanov A, Pollen S, Dalmay T, Saalbach G and
            Powell PP.
  TITLE     Host factors that interact with the pestivirus N-terminal protease,
            Npro, are components of the ribonucleoprotein complex
  JOURNAL   J Virol 88 (18), 10340-10353 (2014)
   PUBMED   24965446
REFERENCE   5  (residues 1 to 174)
  AUTHORS   Anger AM, Armache JP, Berninghausen O, Habeck M, Subklewe M, Wilson
            DN and Beckmann R.
  TITLE     Structures of the human and Drosophila 80S ribosome
  JOURNAL   Nature 497 (7447), 80-85 (2013)
   PUBMED   23636399
REFERENCE   6  (residues 1 to 174)
  AUTHORS   Odintsova TI, Muller EC, Ivanov AV, Egorov TA, Bienert R,
            Vladimirov SN, Kostka S, Otto A, Wittmann-Liebold B and Karpova GG.
  TITLE     Characterization and analysis of posttranslational modifications of
            the human large cytoplasmic ribosomal subunit proteins by mass
            spectrometry and Edman sequencing
  JOURNAL   J Protein Chem 22 (3), 249-258 (2003)
   PUBMED   12962325
REFERENCE   7  (residues 1 to 174)
  AUTHORS   Yoshihama M, Uechi T, Asakawa S, Kawasaki K, Kato S, Higa S, Maeda
            N, Minoshima S, Tanaka T, Shimizu N and Kenmochi N.
  TITLE     The human ribosomal protein genes: sequencing and comparative
            analysis of 73 genes
  JOURNAL   Genome Res 12 (3), 379-390 (2002)
   PUBMED   11875025
REFERENCE   8  (residues 1 to 174)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   9  (residues 1 to 174)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   10 (residues 1 to 174)
  AUTHORS   Mager DL and Freeman JD.
  TITLE     A human gene related to the ribosomal protein L23 gene of
            Halobacterium marismortui
  JOURNAL   Nucleic Acids Res 18 (17), 5301 (1990)
   PUBMED   2402465
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC100778.5.
            
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L22P family of ribosomal proteins. It is located in the
            cytoplasm. This gene has been referred to as rpL23 because the
            encoded protein shares amino acid identity with ribosomal protein
            L23 from Halobacterium marismortui; however, its official symbol is
            RPL17. As is typical for genes encoding ribosomal proteins, there
            are multiple processed pseudogenes of this gene dispersed through
            the genome. Alternative splicing results in multiple transcript
            variants. Read-through transcription also exists between this gene
            and the neighboring downstream C18orf32 (chromosome 18 open reading
            frame 32) gene. [provided by RefSeq, Dec 2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: BQ926021.1, BM679957.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..174
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     Protein         1..174
                     /product="60S ribosomal protein L17 isoform d"
                     /note="60S ribosomal protein L17; large ribosomal subunit
                     protein uL22; gene encoding putative NFkB activating
                     protein; 60S ribosomal protein L23"
                     /calculated_mol_wt=20116
     Region          4..155
                     /region_name="PTZ00178"
                     /note="60S ribosomal protein L17; Provisional"
                     /db_xref="CDD:240306"
     Site            order(5..6,28..30,32..33,35..36,89..94,102..107,139..140)
                     /site_type="active"
                     /note="putative translocon binding site [active]"
                     /db_xref="CDD:238205"
     Site            order(8,10,13,15..17,20,24,27,87,91,94,106,108..110,112,
                     115,127..132)
                     /site_type="other"
                     /note="protein-rRNA interface [nucleotide binding]"
                     /db_xref="CDD:238205"
     CDS             1..174
                     /gene="RPL17"
                     /gene_synonym="L17; PD-1; RPL23; uL22"
                     /coded_by="NM_001369561.1:226..750"
                     /note="isoform d is encoded by transcript variant 15"
                     /db_xref="CCDS:CCDS92461.1"
                     /db_xref="GeneID:6139"
                     /db_xref="HGNC:HGNC:10307"
                     /db_xref="MIM:603661"
ORIGIN      
        1 msyscksrgs nlrvhfkntr etaqaikgmh irkatkylkd vtlqkqcvpf rrynggvgrc
       61 aqakqwgwtq grwpkksaef llhmlknaes naelkgldvd slviehiqvn kapkmrrrty
      121 rahgrinpym sspchiemil tekeqivpkp eeevaqkkki sqkklkkqkl mare
//
LOCUS       NP_001244170              87 aa            linear   PRI 15-MAR-2023
DEFINITION  putative bifunctional UDP-N-acetylglucosamine transferase and
            deubiquitinase ALG13 isoform 8 [Homo sapiens].
ACCESSION   NP_001244170
VERSION     NP_001244170.1
DBSOURCE    REFSEQ: accession NM_001257241.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 87)
  AUTHORS   Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T,
            Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogne B, Deb
            W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI,
            Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ
            and Sobering AK.
  TITLE     ALG13 X-linked intellectual disability: New variants, glycosylation
            analysis, and expanded phenotypes
  JOURNAL   J Inherit Metab Dis 44 (4), 1001-1012 (2021)
   PUBMED   33734437
  REMARK    GeneRIF: ALG13 X-linked intellectual disability: New variants,
            glycosylation analysis, and expanded phenotypes.
REFERENCE   2  (residues 1 to 87)
  AUTHORS   Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem
            A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA,
            Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He
            M, Edmondson AC and Lam C.
  CONSRTM   University of Washington Center for Mendelian Genomics (UW-CMG)
  TITLE     Expanding the phenotype, genotype and biochemical knowledge of
            ALG3-CDG
  JOURNAL   J Inherit Metab Dis 44 (4), 987-1000 (2021)
   PUBMED   33583022
  REMARK    GeneRIF: Expanding the phenotype, genotype and biochemical
            knowledge of ALG3-CDG.
REFERENCE   3  (residues 1 to 87)
  AUTHORS   Datta AN, Bahi-Buisson N, Bienvenu T, Buerki SE, Gardiner F, Cross
            JH, Heron B, Kaminska A, Korff CM, Lepine A, Lesca G, McTague A,
            Mefford HC, Mignot C, Milh M, Piton A, Pressler RM, Ruf S, Sadleir
            LG, de Saint Martin A, Van Gassen K, Verbeek NE, Ville D,
            Villeneuve N, Zacher P, Scheffer IE and Lemke JR.
  TITLE     The phenotypic spectrum of X-linked, infantile onset ALG13-related
            developmental and epileptic encephalopathy
  JOURNAL   Epilepsia 62 (2), 325-334 (2021)
   PUBMED   33410528
  REMARK    GeneRIF: The phenotypic spectrum of X-linked, infantile onset
            ALG13-related developmental and epileptic encephalopathy.
REFERENCE   4  (residues 1 to 87)
  AUTHORS   Madaan P, Negi S, Sharma R, Kaur A and Sahu JK.
  TITLE     X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy
            in Girls
  JOURNAL   Indian J Pediatr 86 (11), 1072-1073 (2019)
   PUBMED   31444733
  REMARK    GeneRIF: X-Linked ALG13 Gene Variant as a Cause of Epileptic
            Encephalopathy in Girls.
REFERENCE   5  (residues 1 to 87)
  AUTHORS   Hamici S, Bastaki F and Khalifa M.
  TITLE     Exome sequence identified a c.320A > G ALG13 variant in a female
            with infantile epileptic encephalopathy with normal glycosylation
            and random X inactivation: Review of the literature
  JOURNAL   Eur J Med Genet 60 (10), 541-547 (2017)
   PUBMED   28778787
  REMARK    GeneRIF: A female patient heterozygous for ALG13 Asn107Ser variant
            presented with infantile spasms, developmental delay, and
            dysmorphic features.  The patient showed normal pattern of
            glycosylated transferrin and random pattern of X-inactivation.
            Review article
REFERENCE   6  (residues 1 to 87)
  AUTHORS   Esposito T, Lea RA, Maher BH, Moses D, Cox HC, Magliocca S, Angius
            A, Nyholt DR, Titus T, Kay T, Gray NA, Rastaldi MP, Parnham A,
            Gianfrancesco F and Griffiths LR.
  TITLE     Unique X-linked familial FSGS with co-segregating heart block
            disorder is associated with a mutation in the NXF5 gene
  JOURNAL   Hum Mol Genet 22 (18), 3654-3666 (2013)
   PUBMED   23686279
REFERENCE   7  (residues 1 to 87)
  AUTHORS   Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K,
            Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Korner C,
            Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C,
            Wevers RA, Morava E, Veltman J and Lefeber DJ.
  TITLE     Gene identification in the congenital disorders of glycosylation
            type I by whole-exome sequencing
  JOURNAL   Hum Mol Genet 21 (19), 4151-4161 (2012)
   PUBMED   22492991
REFERENCE   8  (residues 1 to 87)
  AUTHORS   Averbeck N, Keppler-Ross S and Dean N.
  TITLE     Membrane topology of the Alg14 endoplasmic reticulum UDP-GlcNAc
            transferase subunit
  JOURNAL   J Biol Chem 282 (40), 29081-29088 (2007)
   PUBMED   17686769
REFERENCE   9  (residues 1 to 87)
  AUTHORS   Gao XD, Tachikawa H, Sato T, Jigami Y and Dean N.
  TITLE     Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic
            reticulum to form a novel bipartite UDP-N-acetylglucosamine
            transferase required for the second step of N-linked glycosylation
  JOURNAL   J Biol Chem 280 (43), 36254-36262 (2005)
   PUBMED   16100110
  REMARK    GeneRIF: ALG13 and ALG14 form a functional endoplasmic reticulum
            UDP-N-acetylglucosamine transferase
REFERENCE   10 (residues 1 to 87)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB292609.1, AK302890.1,
            BF239206.1 and AL096764.11.
            
            Summary: The protein encoded by this gene is a subunit of a
            bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes
            with asparagine-linked glycosylation 14 homolog to form a
            functional UDP-GlcNAc glycosyltransferase that catalyzes the second
            sugar addition of the highly conserved oligosaccharide precursor in
            endoplasmic reticulum N-linked glycosylation. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2009].
            
            Transcript Variant: This variant (13) has multiple differences,
            compared to variant 1, including the use of an alternate start
            codon and alternate 3' UTR. The encoded isoform (8) is shorter and
            has distinct N- and C-termini, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BF239206.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..87
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     Protein         1..87
                     /product="putative bifunctional UDP-N-acetylglucosamine
                     transferase and deubiquitinase ALG13 isoform 8"
                     /EC_number="3.4.19.12"
                     /EC_number="2.4.1.141"
                     /note="hematopoietic stem/progenitor cells protein MDS031;
                     UDP-N-acetylglucosamine transferase subunit ALG13 homolog;
                     glycosyltransferase 28 domain-containing protein 1; tudor
                     domain containing 13; asparagine-linked glycosylation 13
                     homolog; N-acetylglucosaminyldiphosphodolichol
                     N-acetylglucosaminyltransferase; putative bifunctional
                     UDP-N-acetylglucosamine transferase and deubiquitinase
                     ALG13"
                     /calculated_mol_wt=9506
     Region          <4..>42
                     /region_name="Glycosyltransferase_GTB-type"
                     /note="glycosyltransferase family 1 and related proteins
                     with GTB topology; cl10013"
                     /db_xref="CDD:447877"
     CDS             1..87
                     /gene="ALG13"
                     /gene_synonym="CDG1S; CXorf45; DEE36; EIEE36; GLT28D1;
                     MDS031; TDRD13; YGL047W"
                     /coded_by="NM_001257241.3:350..613"
                     /note="isoform 8 is encoded by transcript variant 13"
                     /db_xref="GeneID:79868"
                     /db_xref="HGNC:HGNC:30881"
                     /db_xref="MIM:300776"
ORIGIN      
        1 mftgagscle tlekgkplvv vineklmnnh qlelakqlhk eghlfyctcs tlpgllqsmd
       61 lstlkcyppg qpekfsafld kvvglqk
//
LOCUS       NP_002755                318 aa            linear   PRI 17-MAR-2023
DEFINITION  ribose-phosphate pyrophosphokinase 1 isoform 1 [Homo sapiens].
ACCESSION   NP_002755
VERSION     NP_002755.1
DBSOURCE    REFSEQ: accession NM_002764.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 318)
  AUTHORS   Jin Q, Li J, Yang F, Feng L and Du X.
  TITLE     Circular RNA circKIF2A Contributes to the Progression of
            Neuroblastoma Through Regulating PRPS1 Expression by Sponging
            miR-377-3p
  JOURNAL   Biochem Genet 60 (4), 1380-1401 (2022)
   PUBMED   35039981
  REMARK    GeneRIF: Circular RNA circKIF2A Contributes to the Progression of
            Neuroblastoma Through Regulating PRPS1 Expression by Sponging
            miR-377-3p.
REFERENCE   2  (residues 1 to 318)
  AUTHORS   Somazu S, Tanaka Y, Tamai M, Watanabe A, Kagami K, Abe M, Harama D,
            Shinohara T, Akahane K, Goi K, Sugita K, Moriyama T, Yang J, Goto
            H, Minegishi M, Iwamoto S, Takita J and Inukai T.
  TITLE     NUDT15 polymorphism and NT5C2 and PRPS1 mutations influence
            thiopurine sensitivity in acute lymphoblastic leukaemia cells
  JOURNAL   J Cell Mol Med 25 (22), 10521-10533 (2021)
   PUBMED   34636169
  REMARK    GeneRIF: NUDT15 polymorphism and NT5C2 and PRPS1 mutations
            influence thiopurine sensitivity in acute lymphoblastic leukaemia
            cells.
REFERENCE   3  (residues 1 to 318)
  AUTHORS   Liu,X.Z., Yuan,H., Mittal,R. and Yan,D.
  TITLE     DFNX1 Nonsyndromic Hearing Loss and Deafness
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21834172
REFERENCE   4  (residues 1 to 318)
  AUTHORS   de Brouwer,A.P.M. and Christodoulou,J.
  TITLE     Arts Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301738
REFERENCE   5  (residues 1 to 318)
  AUTHORS   de Brouwer,A.P.M. and Christodoulou,J.
  TITLE     Phosphoribosylpyrophosphate Synthetase Superactivity
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301734
REFERENCE   6  (residues 1 to 318)
  AUTHORS   Kim,J.W. and Kim,H.J.
  TITLE     Charcot-Marie-Tooth Neuropathy X Type 5
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301731
REFERENCE   7  (residues 1 to 318)
  AUTHORS   Shearer,A.E., Hildebrand,M.S. and Smith,R.J.H.
  TITLE     Hereditary Hearing Loss and Deafness Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
REFERENCE   8  (residues 1 to 318)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   9  (residues 1 to 318)
  AUTHORS   Ishizuka T, Iizasa T, Taira M, Ishijima S, Sonoda T, Shimada H,
            Nagatake N and Tatibana M.
  TITLE     Promoter regions of the human X-linked housekeeping genes PRPS1 and
            PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and
            II isoforms
  JOURNAL   Biochim Biophys Acta 1130 (2), 139-148 (1992)
   PUBMED   1314091
REFERENCE   10 (residues 1 to 318)
  AUTHORS   Sonoda T, Taira M, Ishijima S, Ishizuka T, Iizasa T and Tatibana M.
  TITLE     Complete nucleotide sequence of human phosphoribosyl pyrophosphate
            synthetase subunit I (PRS I) cDNA and a comparison with human and
            rat PRPS gene families
  JOURNAL   J Biochem 109 (2), 361-364 (1991)
   PUBMED   1650777
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL137787.11 and BC001605.1.
            
            Summary: This gene encodes an enzyme that catalyzes the
            phosphoribosylation of ribose 5-phosphate to
            5-phosphoribosyl-1-pyrophosphate, which is necessary for purine
            metabolism and nucleotide biosynthesis. Defects in this gene are a
            cause of phosphoribosylpyrophosphate synthetase superactivity,
            Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts
            Syndrome. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC001605.1, D00860.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372435.10/ ENSP00000361512.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..318
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.3"
     Protein         1..318
                     /product="ribose-phosphate pyrophosphokinase 1 isoform 1"
                     /EC_number="2.7.6.1"
                     /note="ribose-phosphate diphosphokinase 1; deafness,
                     X-linked 2, perceptive, congenital; ribose-phosphate
                     pyrophosphokinase 1; deafness 2, perceptive, congenital;
                     dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1);
                     phosphoribosyl pyrophosphate synthase I"
                     /calculated_mol_wt=34703
     Region          1..313
                     /region_name="PrsA"
                     /note="Phosphoribosylpyrophosphate synthetase [Nucleotide
                     transport and metabolism, Amino acid transport and
                     metabolism]; COG0462"
                     /db_xref="CDD:223538"
     Region          212..227
                     /region_name="Binding of phosphoribosylpyrophosphate.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P60891.2)"
     CDS             1..318
                     /gene="PRPS1"
                     /gene_synonym="ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRS-I;
                     PRSI"
                     /coded_by="NM_002764.4:120..1076"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS14529.1"
                     /db_xref="GeneID:5631"
                     /db_xref="HGNC:HGNC:9462"
                     /db_xref="MIM:311850"
ORIGIN      
        1 mpnikifsgs shqdlsqkia drlglelgkv vtkkfsnqet cveigesvrg edvyivqsgc
       61 geindnlmel liminackia sasrvtavip cfpyarqdkk dksrapisak lvanmlsvag
      121 adhiitmdlh asqiqgffdi pvdnlyaepa vlkwirenis ewrnctivsp daggakrvts
      181 iadrlnvdfa lihkerkkan evdrmvlvgd vkdrvailvd dmadtcgtic haadkllsag
      241 atrvyailth gifsgpaisr innacfeavv vtntipqedk mkhcskiqvi dismilaeai
      301 rrthngesvs ylfshvpl
//
LOCUS       NP_001307542            1145 aa            linear   PRI 17-MAR-2023
DEFINITION  adenylate cyclase type 3 isoform 1 [Homo sapiens].
ACCESSION   NP_001307542 XP_005264161
VERSION     NP_001307542.1
DBSOURCE    REFSEQ: accession NM_001320613.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1145)
  AUTHORS   Ye CY, Xin JR, Li Z, Yin XY, Guo SL, Li JM, Zhao TY, Wang L and
            Yang L.
  TITLE     ALDH2, ADCY3 and BCMO1 polymorphisms and lifestyle-induced traits
            are jointly associated with CAD risk in Chinese Han people
  JOURNAL   Gene 807, 145948 (2022)
   PUBMED   34481002
  REMARK    GeneRIF: ALDH2, ADCY3 and BCMO1 polymorphisms and lifestyle-induced
            traits are jointly associated with CAD risk in Chinese Han people.
REFERENCE   2  (residues 1 to 1145)
  AUTHORS   Toumba M, Fanis P, Vlachakis D, Neocleous V, Phylactou LA, Skordis
            N, Mantzoros CS and Pantelidou M.
  TITLE     Molecular modelling of novel ADCY3 variant predicts a molecular
            target for tackling obesity
  JOURNAL   Int J Mol Med 49 (1) (2022)
   PUBMED   34821371
  REMARK    GeneRIF: Molecular modelling of novel ADCY3 variant predicts a
            molecular target for tackling obesity.
REFERENCE   3  (residues 1 to 1145)
  AUTHORS   Goni L, Riezu-Boj JI, Milagro FI, Corrales FJ, Ortiz L, Cuervo M
            and Martinez JA.
  TITLE     Interaction between an ADCY3 Genetic Variant and Two
            Weight-Lowering Diets Affecting Body Fatness and Body Composition
            Outcomes Depending on Macronutrient Distribution: A Randomized
            Trial
  JOURNAL   Nutrients 10 (6), 789 (2018)
   PUBMED   29921800
  REMARK    GeneRIF: This study showed that subjects carrying the G allele of
            the rs10182181 polymorphism may benefit more in terms of weight
            loss and improvement of body composition measurements when
            undertaking a hypocaloric low-fat diet as compared to a
            moderately-high-protein diet.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1145)
  AUTHORS   Saeed S, Bonnefond A, Tamanini F, Mirza MU, Manzoor J, Janjua QM,
            Din SM, Gaitan J, Milochau A, Durand E, Vaillant E, Haseeb A, De
            Graeve F, Rabearivelo I, Sand O, Queniat G, Boutry R, Schott DA,
            Ayesha H, Ali M, Khan WI, Butt TA, Rinne T, Stumpel C, Abderrahmani
            A, Lang J, Arslan M and Froguel P.
  TITLE     Loss-of-function mutations in ADCY3 cause monogenic severe obesity
  JOURNAL   Nat Genet 50 (2), 175-179 (2018)
   PUBMED   29311637
  REMARK    GeneRIF: ADCY3 is an important mediator of energy homeostasis and
            an attractive pharmacological target in the treatment of obesity.
REFERENCE   5  (residues 1 to 1145)
  AUTHORS   Grarup N, Moltke I, Andersen MK, Dalby M, Vitting-Seerup K, Kern T,
            Mahendran Y, Jorsboe E, Larsen CVL, Dahl-Petersen IK, Gilly A,
            Suveges D, Dedoussis G, Zeggini E, Pedersen O, Andersson R,
            Bjerregaard P, Jorgensen ME, Albrechtsen A and Hansen T.
  TITLE     Loss-of-function variants in ADCY3 increase risk of obesity and
            type 2 diabetes
  JOURNAL   Nat Genet 50 (2), 172-174 (2018)
   PUBMED   29311636
  REMARK    GeneRIF: An enrichment of rare ADCY3 loss-of-function variants
            among individuals with type 2 diabetes in trans-ancestry cohorts.
REFERENCE   6  (residues 1 to 1145)
  AUTHORS   Gaudin C, Homcy CJ and Ishikawa Y.
  TITLE     Mammalian adenylyl cyclase family members are randomly located on
            different chromosomes
  JOURNAL   Hum Genet 94 (5), 527-529 (1994)
   PUBMED   7959689
REFERENCE   7  (residues 1 to 1145)
  AUTHORS   Kleuss C, Raw AS, Lee E, Sprang SR and Gilman AG.
  TITLE     Mechanism of GTP hydrolysis by G-protein alpha subunits
  JOURNAL   Proc Natl Acad Sci U S A 91 (21), 9828-9831 (1994)
   PUBMED   7937899
REFERENCE   8  (residues 1 to 1145)
  AUTHORS   Haber N, Stengel D, Defer N, Roeckel N, Mattei MG and Hanoune J.
  TITLE     Chromosomal mapping of human adenylyl cyclase genes type III, type
            V and type VI
  JOURNAL   Hum Genet 94 (1), 69-73 (1994)
   PUBMED   8034296
REFERENCE   9  (residues 1 to 1145)
  AUTHORS   Hellevuo K, Yoshimura M, Kao M, Hoffman PL, Cooper DM and Tabakoff
            B.
  TITLE     A novel adenylyl cyclase sequence cloned from the human
            erythroleukemia cell line
  JOURNAL   Biochem Biophys Res Commun 192 (1), 311-318 (1993)
   PUBMED   8476432
REFERENCE   10 (residues 1 to 1145)
  AUTHORS   Taylor SS, Buechler JA and Yonemoto W.
  TITLE     cAMP-dependent protein kinase: framework for a diverse family of
            regulatory enzymes
  JOURNAL   Annu Rev Biochem 59, 971-1005 (1990)
   PUBMED   2165385
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012073.9, HY136273.1,
            BM148122.1, BC126235.1, BC144119.1 and BC020148.1.
            On Mar 2, 2016 this sequence version replaced XP_005264161.1.
            
            Summary: This gene encodes adenylyl cyclase 3 which is a
            membrane-associated enzyme and catalyzes the formation of the
            secondary messenger cyclic adenosine monophosphate (cAMP). This
            protein appears to be widely expressed in various human tissues and
            may be involved in a number of physiological and pathophysiological
            metabolic processes. Two transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Feb
            2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2562649.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1145
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     Protein         1..1145
                     /product="adenylate cyclase type 3 isoform 1"
                     /EC_number="4.6.1.1"
                     /note="adenylyl cyclase, type III; adenylate cyclase type
                     3; adenylyl cyclase 3; ATP pyrophosphate-lyase 3;
                     adenylate cyclase type III; adenylate cyclase, olfactive
                     type"
                     /calculated_mol_wt=128917
     Region          <44..303
                     /region_name="AC_N"
                     /note="Adenylyl cyclase N-terminal extracellular and
                     transmembrane region; pfam16214"
                     /db_xref="CDD:318454"
     Site            80..100
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            105..125
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            139..159
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            173..193
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            226..246
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Region          310..494
                     /region_name="Guanylate_cyc"
                     /note="Adenylate and Guanylate cyclase catalytic domain;
                     pfam00211"
                     /db_xref="CDD:425528"
     Site            order(322,324..329,364,366..368,371,433..435,439..440,
                     443..444)
                     /site_type="active"
                     /note="nucleotidyl binding site [active]"
                     /db_xref="CDD:143636"
     Site            order(324,368)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:143636"
     Site            order(329,341,344..345,348,352,364..365,421,424,434..437,
                     440)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143636"
     Site            381..401
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Region          504..566
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            525
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60266.3)"
     Site            580
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VHH7; propagated from
                     UniProtKB/Swiss-Prot (O60266.3)"
     Site            633..653
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            664..684
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            708..728
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            736
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O60266.3)"
     Site            754..774
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            775..795
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Site            834..854
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O60266.3)"
     Region          915..1122
                     /region_name="Guanylate_cyc"
                     /note="Adenylate and Guanylate cyclase catalytic domain;
                     pfam00211"
                     /db_xref="CDD:425528"
     Site            order(927,929..933,938,976,978..980,983,1063..1065,
                     1069..1070,1073..1074,1110)
                     /site_type="active"
                     /note="nucleotidyl binding site [active]"
                     /db_xref="CDD:143636"
     Site            order(929,980)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:143636"
     Site            order(938,950,953..954,957,961,976..977,1051,1054,
                     1064..1067,1070,1110)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143636"
     Site            1077
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CaMK2.
                     /evidence=ECO:0000250|UniProtKB:Q8VHH7; propagated from
                     UniProtKB/Swiss-Prot (O60266.3)"
     CDS             1..1145
                     /gene="ADCY3"
                     /gene_synonym="AC-III; AC3; BMIQ19"
                     /coded_by="NM_001320613.2:753..4190"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS82424.1"
                     /db_xref="GeneID:109"
                     /db_xref="HGNC:HGNC:234"
                     /db_xref="MIM:600291"
ORIGIN      
        1 mprnqgfsep eysaeysaey svslpsdpdr gvgrtheisv rnsgsclclp rfmrltfvpe
       61 slenlyqtyf krqrhetllv lvvfaalfdc yvvvmcavvf ssdklaslav agiglvldii
      121 lfvlckkgll pdrvtrrvlp yvlwllitaq ifsylglnfa rahaasdtvg wqvffvfsff
      181 itlplslspi viisvvscvv htlvlgvtva qqqqeelkgm qllreilanv flylcaiavg
      241 imsyymadrk hrkaflearq slevkmnlee qsqqqenlml silpkhvade mlkdmkkdes
      301 qkdqqqfntm ymyrhenvsi lfadivgftq lssacsaqel vkllnelfar fdklaakyhq
      361 lrikilgdcy ycicglpdyr edhavcsilm glamveaisy vrektktgvd mrvgvhtgtv
      421 lggvlgqkrw qydvwstdvt vankmeaggi pgrvhisqst mdclkgefdv epgdggsrcd
      481 yleekgiety liiaskpevk ktatqnglng salpngapas skssspalie tkepngsahs
      541 sgstsekpee qdaqadnpsf pnprrrlrlq dladrvvdas edehelnqll nealleresa
      601 qvvkkrntfl lsmrfmdpem etrysvekek qsgaafscsc vvllctalve ilidpwlmtn
      661 yvtfmvgeil llilticsla aifprafpkk lvafstwidr trwarntwam laifilvman
      721 vvdmlsclqy ytgpsnatag metegsclen pkyynyvavl sliatimlvq vshmvkltlm
      781 llvagavati nlyawrpvfd eydhkrfreh dlpmvaleqm qgfnpglngt dsrlplvpsk
      841 ysmtvmvflm mlsfyyfsrh veklartlfl wkievhdqke rvyemrrwne alvtnmlpeh
      901 varhflgskk rdeelysqty deigvmfasl pnfadfytee sinnggiecl rflneiisdf
      961 dslldnpkfr vitkiktigs tymaasgvtp dvntngfass nkedkserer wqhladladf
     1021 alamkdtltn innqsfnnfm lrigmnkggv lagvigarkp hydiwgntvn vasrmestgv
     1081 mgniqvveet qvilreygfr fvrrgpifvk gkgelltffl kgrdklatfp ngpsvtlphq
     1141 vvdns
//
LOCUS       NP_001001578             491 aa            linear   PRI 18-MAR-2023
DEFINITION  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A
            isoform l [Homo sapiens].
ACCESSION   NP_001001578
VERSION     NP_001001578.1
DBSOURCE    REFSEQ: accession NM_001001578.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 491)
  AUTHORS   Besler C, Rommel KP, Kresoja KP, Morbitz J, Kirsten H, Scholz M,
            Klingel K, Thiery J, Burkhardt R, Buttner P, Adams V, Thiele H and
            Lurz P.
  TITLE     Evaluation of phosphodiesterase 9A as a novel biomarker in heart
            failure with preserved ejection fraction
  JOURNAL   ESC Heart Fail 8 (3), 1861-1872 (2021)
   PUBMED   33787083
  REMARK    GeneRIF: Evaluation of phosphodiesterase 9A as a novel biomarker in
            heart failure with preserved ejection fraction.
REFERENCE   2  (residues 1 to 491)
  AUTHORS   Susmi TF, Rahman A, Khan MMR, Yasmin F, Islam MS, Nasif O, Alharbi
            SA, Batiha GE and Hossain MU.
  TITLE     Prognostic and clinicopathological insights of phosphodiesterase 9A
            gene as novel biomarker in human colorectal cancer
  JOURNAL   BMC Cancer 21 (1), 577 (2021)
   PUBMED   34016083
  REMARK    GeneRIF: Prognostic and clinicopathological insights of
            phosphodiesterase 9A gene as novel biomarker in human colorectal
            cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 491)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 491)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (residues 1 to 491)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (residues 1 to 491)
  AUTHORS   Wang P, Wu P, Egan RW and Billah MM.
  TITLE     Identification and characterization of a new human type 9
            cGMP-specific phosphodiesterase splice variant (PDE9A5).
            Differential tissue distribution and subcellular localization of
            PDE9A variants
  JOURNAL   Gene 314, 15-27 (2003)
   PUBMED   14527714
REFERENCE   7  (residues 1 to 491)
  AUTHORS   Rentero C, Monfort A and Puigdomenech P.
  TITLE     Identification and distribution of different mRNA variants produced
            by differential splicing in the human phosphodiesterase 9A gene
  JOURNAL   Biochem Biophys Res Commun 301 (3), 686-692 (2003)
   PUBMED   12565835
  REMARK    GeneRIF: Identification and distribution of different variants
            produced by differential splicing of phosphodiesterase 9A mRNA.
REFERENCE   8  (residues 1 to 491)
  AUTHORS   Guipponi M, Scott HS, Kudoh J, Kawasaki K, Shibuya K, Shintani A,
            Asakawa S, Chen H, Lalioti MD, Rossier C, Minoshima S, Shimizu N
            and Antonarakis SE.
  TITLE     Identification and characterization of a novel cyclic nucleotide
            phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative
            splicing of mRNA transcripts, genomic structure and sequence
  JOURNAL   Hum Genet 103 (4), 386-392 (1998)
   PUBMED   9856478
REFERENCE   9  (residues 1 to 491)
  AUTHORS   Fisher DA, Smith JF, Pillar JS, St Denis SH and Cheng JB.
  TITLE     Isolation and characterization of PDE9A, a novel human
            cGMP-specific phosphodiesterase
  JOURNAL   J Biol Chem 273 (25), 15559-15564 (1998)
   PUBMED   9624146
REFERENCE   10 (residues 1 to 491)
  AUTHORS   Loughney K, Martins TJ, Harris EA, Sadhu K, Hicks JB, Sonnenburg
            WK, Beavo JA and Ferguson K.
  TITLE     Isolation and characterization of cDNAs corresponding to two human
            calcium, calmodulin-regulated, 3',5'-cyclic nucleotide
            phosphodiesterases
  JOURNAL   J Biol Chem 271 (2), 796-806 (1996)
   PUBMED   8557689
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001626.1, AI492065.1,
            AY196307.1, BC009047.1, AF048837.1 and AF067223.1.
            
            Summary: The protein encoded by this gene catalyzes the hydrolysis
            of cAMP and cGMP to their corresponding monophosphates. The encoded
            protein plays a role in signal transduction by regulating the
            intracellular concentration of these cyclic nucleotides. Multiple
            transcript variants encoding several different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (13) lacks three alternate exons
            compared to variant 1. The resulting isoform (l) has the same N-
            and C-termini but lacks two internal segments compared to isoform
            a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY196307.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146236, SAMEA2155984
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..491
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..491
                     /product="high affinity cGMP-specific 3',5'-cyclic
                     phosphodiesterase 9A isoform l"
                     /EC_number="3.1.4.35"
                     /note="CGMP-specific 3',5'-cyclic phosphodiesterase type
                     9; high affinity cGMP-specific 3',5'-cyclic
                     phosphodiesterase 9A; phosphodiesterase PDE9A21"
                     /calculated_mol_wt=57219
     Region          209..437
                     /region_name="PDEase_I"
                     /note="3'5'-cyclic nucleotide phosphodiesterase;
                     pfam00233"
                     /db_xref="CDD:425542"
     Site            order(214,250..251,360)
                     /site_type="other"
                     /note="Zn2+ binding site [ion binding]"
                     /db_xref="CDD:238032"
     Site            251
                     /site_type="other"
                     /note="Mg2+ binding site [ion binding]"
                     /db_xref="CDD:238032"
     CDS             1..491
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /coded_by="NM_001001578.2:195..1670"
                     /note="isoform l is encoded by transcript variant 13"
                     /db_xref="CCDS:CCDS33570.1"
                     /db_xref="GeneID:5152"
                     /db_xref="HGNC:HGNC:8795"
                     /db_xref="MIM:602973"
ORIGIN      
        1 mgsgsssyrp kaiyldidgr iqkehdhlpa dhrrrhglhr phharefrth svqsetcghq
       61 atlrafkine lkaevanhla vlekrveleg lkvveiekck sdikkmreel aarssrtncp
      121 ckysfldnhk kltprrdvpt ypkyllspet iealrkptfd vwlwepneml sclehmyhdl
      181 glvrdfsinp vtlrrwlfcv hdnyrnnpfh nfrhcfcvaq mmysmvwlcs lqekfsqtdi
      241 lilmtaaich dldhpgynnt yqinartela vryndisple nhhcavafqi laepecnifs
      301 nippdgfkqi rqgmitlila tdmarhaeim dsfkekmenf dysneehmtl lkmilikccd
      361 isnevrpmev aepwvdclle eyfmqsdrek seglpvapfm drdkvtkata qigfikfvli
      421 pmfetvtklf pmveeimlqp lwesrdryee lkriddamke lqkktdslts gateksrers
      481 rdvknsegdc a
//
LOCUS       XP_011539102            1062 aa            linear   PRI 20-MAR-2023
DEFINITION  cilia- and flagella-associated protein 57 isoform X7 [Homo
            sapiens].
ACCESSION   XP_011539102
VERSION     XP_011539102.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011540800.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1062
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1062
                     /product="cilia- and flagella-associated protein 57
                     isoform X7"
                     /calculated_mol_wt=122499
     Region          <29..256
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          61..104
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          111..148
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          156..191
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          198..223
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          285..336
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          341..387
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <343..420
                     /region_name="Nsa1_WDR74-like"
                     /note="Ribosome biogenesis protein Nsa1 and similar
                     proteins; cl45912"
                     /db_xref="CDD:459257"
     Region          348..390
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439302"
     Region          388..666
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(388,406,410,416..417,428..429,447,451,456..457,
                     465..466,487,497..498,511,528,533,539..540,552..553,571,
                     575,580,592..593,610,615,623..624,636..637,655,659,
                     665..666)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          393..429
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          433..467
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          475..509
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          515..553
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          600..635
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          643..670
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          703..>1035
                     /region_name="Mplasa_alph_rch"
                     /note="helix-rich Mycoplasma protein; TIGR04523"
                     /db_xref="CDD:275316"
     CDS             1..1062
                     /gene="CFAP57"
                     /gene_synonym="VWS2; WDR65"
                     /coded_by="XM_011540800.3:144..3332"
                     /db_xref="GeneID:149465"
                     /db_xref="HGNC:HGNC:26485"
                     /db_xref="MIM:614259"
ORIGIN      
        1 msavvaqtlh vfglrshvan nifyfdeqii ifpsgnhcvk ynvdqkwqkf ipgseksqgm
       61 lalsispnrr ylaisetvqe kpaitiyels sipcrkrkvl nnfdfqvqkf ismafspdsk
      121 yllaqtsppe snlvywlwek qkvmaivrid tqnnpvyqvs fspqdntqvc vtgngmfkll
      181 rfaegtlkqt sfqrgepqny lahtwvaddk ivvgtdtgkl flfesgdqrw etsimvkept
      241 ngsksldviq esesliefpp vssplpsyeq mvaasshsqm smpqvfaiaa yskgfacsag
      301 pgrvllfekm eekdfyresr eiripvdpqs ndpsqsdkqd vlclcfspse etlvastskn
      361 qlysitmslt eiskgepahf eylmyplhsa pitglatcir kpliatcsld rsirlwnyet
      421 ntlelfkeyq eeaysislhp sghfivvgfa dklrlmnlli ddirsfkeys vrgcgecsfs
      481 ngghlfaavn gnvihvyttt slenisslkg htgkirsivw naddsklisg gtdgavyewn
      541 lstgkretec vlkscsyncv tvspdakiif avgsdhtlke iadslilrei safdvtytai
      601 vishsgrmmf vgtsvgtira mkyplplqke fneyqahagp itkmlltfdd qflltaaedg
      661 clftwkvfdk dgrgikrere vgfaeevlvt ktdmeekaqv mlelktrvee lkmeneyqlr
      721 lkdmnyseki keltdkfiqe meslktknqv lrtekekqdv yhhehiedll dkqsrelqdm
      781 eccnnqklll eyekyqelql ksqrmqeeye kqlrdndetk sqaleeltef yeaklqektt
      841 lleeaqedvr qqlrefeetk kqieededre iqdiktkyek klrdekesnl rlkgetgimr
      901 kkfsslqkei eertndietl kgeqmklqgv ikslekdiqg lkreiqerde tiqdkekriy
      961 dlkkknqelg kfkfvldyki kelkkqiepr eneirvmkeq iqemeaelen fhkqntqlel
     1021 nitelwqklr atdqemrrer qkpclisgpc rftslnsset ik
//
LOCUS       XP_005245081            2819 aa            linear   PRI 20-MAR-2023
DEFINITION  protein PRRC2C isoform X9 [Homo sapiens].
ACCESSION   XP_005245081
VERSION     XP_005245081.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005245024.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2819
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..2819
                     /product="protein PRRC2C isoform X9"
                     /calculated_mol_wt=308647
     Region          1..162
                     /region_name="BAT2_N"
                     /note="BAT2 N-terminus; pfam07001"
                     /db_xref="CDD:429240"
     Region          <931..1309
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     CDS             1..2819
                     /gene="PRRC2C"
                     /gene_synonym="BAT2-iso; BAT2D1; BAT2L2; XTP2"
                     /coded_by="XM_005245024.3:264..8723"
                     /db_xref="GeneID:23215"
                     /db_xref="HGNC:HGNC:24903"
                     /db_xref="MIM:617373"
ORIGIN      
        1 mseksgqstk akdgkkyatl slfntykgks letqkttvaa rhglqslgkv gisrrmpppa
       61 nlpslkaenk gndpnvnivp kdgtgwaskq eqheeektpe vppaqpkpgv aappevapap
      121 kswasnkqgg qgdgiqvnsq fqqefpslqa agdqekkeke tnddnygpgp slrppnvacw
      181 rdggkaagsp sssdqdeklp gqdestagts eqndilkvve kriacgppqa klngqqaala
      241 sqyrammppy mfqqyprmty pplhgpmrfp pslsetnkgl rgrgpppswa seperpsils
      301 aselkeldkf dnldaeadeg wagaqmevdy teqlnfsddd eqgsnspken nsedqgskas
      361 ennenkketd evsntksssq ipaqpsvakv pygkgpsfnq ergtsshlpp ppkllaqqhp
      421 ppdrqavpgr pgpfpskqqv adedeiwkqr rrqqseisaa verarkrree eerrmeeqrk
      481 aacaeklkrl deklgilekq pspeeirere rekerereke lekeqeqere kerekdrerq
      541 qekekeleke qekqremeke rkqekekele rqkekekelq kmkeqekece lekereklee
      601 kieprepnle pmvekqesen scnkeeepvf trqdsnrsek eatpvvhete pesgsqprpa
      661 vlsgyfkqfq kslpprfqrq qeqmkqqqwq qqqqqgvlpq tvpsqpssst vpppphrply
      721 qpmqphpqhl asmgfdprwl mmqsymdprm msgrpamdip pihpgmippk plmrrdqmeg
      781 spnssesfeh iarsardhai slseprmlwg sdpyphaepq qattpkatee pedvrseaal
      841 dqeqitaays vehnqleahp kadfiresse aqvqkflsrs vedvrphhtd annqsacfea
      901 pdqktlsapq eerisavesq psrkrsvshg snhtqkpdeq rsepsagipk vtsrcidske
      961 pierpeekpk kegfirsseg pkpekvyksk setrwgprps snrreevndr pvrrsgpikk
     1021 pvlrdmkeer eqrkekegek aekvtekvvv kpektekkdl pppppppqpp apiqpqsvpp
     1081 piqpeaekfp stetatlaqk psqdtekple pvstvqvepa vktvnqqtma apvvkeekqp
     1141 ekviskdlvi erprpdsrpa vkkestlppr tywkearerd wfpdqgyrgr grgeyysrgr
     1201 syrgsyggrg rggrghtrdy pqyrdnkpra ehipsgplrq reesetrses sdfevvpkrr
     1261 rqrgsetdtd seihesasdk dslskgklpk reerpenkkp vkphssfkpd nhvridnrll
     1321 ekpyvrdddk akpgflpkge ptrrgrggtf rrggrdpggr psrpstlrrp ayrdnqwnpr
     1381 qsevpkpedg epprrheqfi piaadkrppk ferkfdpare rprrqrptrp prqdkpprfr
     1441 rlrereaask snevvavptn gtvnnvaqep vntlgdisgn ktpdlsnqns sdqaneewet
     1501 asessdfner rerdekknad lnaqtvvkvg envlppkrei akrsfssqrp vdrqnrrgnn
     1561 gppksgrnfs gprnerrsgp psksgkrgpf ddqpagttgv dlingssahh qegvpngtgq
     1621 knskdstgkk redpkpgpkk pkekvdalsq fdlnnyasvv iiddhpevtv iedpqsnlnd
     1681 dgftevvskk qqkrlqdeer rkkeeqviqv wnkknanekg rsqtsklppr fakkqatgiq
     1741 qaqssasvpp lasaplppst sasvpastsa plpatltpvp astsapvpas tlapvlasts
     1801 apvpasplap vsasasvsas vpastsaaai tsssapasap aptpilasvs tpasvtilas
     1861 asipilasal astsaptpap aasspaapvi taptipasap tasvplapas asapapaptp
     1921 vsapnpappa paqtqaqthk pvqnplqtts qsskqpppsi rlpsaqtpng tdyvasgksi
     1981 qtpqshgtlt aelwdnkvap pavlndiskk lgpisppqpp svsawnkplt sfgsapsseg
     2041 akngqesgle igtdtiqfga pasngnenev vpvlseksad kipepkeqrq kqpragpika
     2101 qklpdlspve nkehkpgpig kerslknrkv kdaqqvepeg qekpspatvr stdpvttket
     2161 kavsemstei gtmisvssae ygtnakesvt dyttpssslp ntvatnntkm edtlvnnvpl
     2221 pntlplpkre tiqqssslts vppttfsltf kmesarkawe nspnvrekgs pvtstappia
     2281 tgvsssasgp stanynsfss asmpqipvas vtptaslsga gtyttsslst kstttsdppn
     2341 ickvkpqqlq tsslpsashf sqlscmpsli aqqqqnpqvy vsqsaaaqip afymdtshlf
     2401 ntqharlapp slaqqqgfqp glsqptsvqq ipipiyaplq gqhqaqlslg agpavsqaqe
     2461 lfssslqpyr sqpafmqssl sqpsvvlsgt aihnfptvqh qelakaqsgl afqqtsntqp
     2521 ipilyehqlg qasglggsql idthllqara nltqasnlys gqvqqpgqtn fyntaqspsa
     2581 lqqvtvplpa sqlslpnfgs tgqplialpq tlqpplqhtt pqaqaqslsr paqvsqpfrg
     2641 lipagtqhsm iattgkmsem elkafgsgid ikpgtppiag rsttptsspf ratstspnsq
     2701 sskmnsivyq kqfqsapatv rmtqpfptqf apqakqraev lqstqrffse qqqskqiggg
     2761 kaqkvdsdss kppetltdpp gvcqekveek pppapsiatk pvrtgpikpq aikteetks
//
LOCUS       XP_016873121             456 aa            linear   PRI 20-MAR-2023
DEFINITION  equilibrative nucleoside transporter 2 isoform X2 [Homo sapiens].
ACCESSION   XP_016873121
VERSION     XP_016873121.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017632.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..456
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..456
                     /product="equilibrative nucleoside transporter 2 isoform
                     X2"
                     /calculated_mol_wt=49982
     Region          18..456
                     /region_name="2a57"
                     /note="Equilibrative Nucleoside Transporter (ENT);
                     TIGR00939"
                     /db_xref="CDD:273352"
     CDS             1..456
                     /gene="SLC29A2"
                     /gene_synonym="DER12; ENT2; HNP36"
                     /coded_by="XM_017017632.2:366..1736"
                     /db_xref="GeneID:3177"
                     /db_xref="HGNC:HGNC:11004"
                     /db_xref="MIM:602110"
ORIGIN      
        1 margdaprds yhlvgisffi lglgtllpwn ffitaipyfq arlagagnst arilstnhtg
       61 pedafnfnnw vtllsqlpll lftllnsfly qcvpetvril gsllailllf altaalvkvd
      121 mspgpffsit masvcfinsf savlqgslfg qlgtmpstys tlflsgqgla gifaalamll
      181 smasgvdaet salgyfitpc vgilmsivcy lslphlkfar yylankssqa qaqeletkae
      241 llqsdengip sspqkvaltl dldlekepes epdepqkpgk psvftvfqki wltalclvlv
      301 ftvtlsvfpa itamvtssts pgkwsqffnp iccfllfnim dwlgrsltsy flwpdedsrl
      361 lpllvclrfl fvplfmlchv pqrsrlpilf pqdayfitfm llfavsngyl vsltmclapr
      421 qvlphereva galmtfflal glscgaslsf lfkall
//
LOCUS       XP_016873656             325 aa            linear   PRI 20-MAR-2023
DEFINITION  chitinase domain-containing protein 1 isoform X10 [Homo sapiens].
ACCESSION   XP_016873656
VERSION     XP_016873656.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017018167.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..325
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..325
                     /product="chitinase domain-containing protein 1 isoform
                     X10"
                     /calculated_mol_wt=36505
     Region          77..>319
                     /region_name="GH18_SI-CLP"
                     /note="Stabilin-1 interacting chitinase-like protein
                     (SI-CLP) is a eukaryotic chitinase-like protein of unknown
                     function that interacts with the endocytic/sorting
                     transmembrane receptor stabilin-1 and is secreted from the
                     lysosome. SI-CLP has a glycosyl...; cd02876"
                     /db_xref="CDD:119355"
     Site            order(84,110,190,192,194,261..262)
                     /site_type="other"
                     /note="putative carbohydrate binding site [chemical
                     binding]"
                     /db_xref="CDD:119355"
     CDS             1..325
                     /gene="CHID1"
                     /gene_synonym="GL008; SI-CLP; SICLP"
                     /coded_by="XM_017018167.3:80..1057"
                     /db_xref="GeneID:66005"
                     /db_xref="HGNC:HGNC:28474"
                     /db_xref="MIM:615692"
ORIGIN      
        1 mrtlfnllwl alacspvhtt lsksdakkaa sktlleksqf sdkpvqdrgl vvtdlkaesv
       61 vlehrsycsa kardrhfagd vlgyvtpwns hgydvtkvfg skftqispvw lqlkrrgrem
      121 fevtglhdvd qgwmravrkh akglhivprl lfedwtyddf rnvldsedei eelsktvvqv
      181 aknqhfdgfv vevwnqllsq krvglihmlt hlaealhqar llallvippa itpgtdqlgm
      241 fthkefeqla pvldgfslmt ydystahqpg pnaplswvra cvqvldpksk wrskillgln
      301 fygmdyatsk darepvvgas vhgas
//
LOCUS       XP_016873705             263 aa            linear   PRI 20-MAR-2023
DEFINITION  troponin T, fast skeletal muscle isoform X17 [Homo sapiens].
ACCESSION   XP_016873705
VERSION     XP_016873705.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017018216.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..263
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..263
                     /product="troponin T, fast skeletal muscle isoform X17"
                     /calculated_mol_wt=30886
     Region          67..202
                     /region_name="Troponin"
                     /note="pfam00992"
                     /db_xref="CDD:425977"
     CDS             1..263
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /coded_by="XM_017018216.2:79..870"
                     /db_xref="GeneID:7140"
                     /db_xref="HGNC:HGNC:11950"
                     /db_xref="MIM:600692"
ORIGIN      
        1 msdeeveqve eeaqeeaaev heevhepeev qedtaeedae eekprpklta pkipegekvd
       61 fddiqkkrqn kdlmelqali dshfearkke eeelvalker iekrraerae qqriraeker
      121 erqnrlaeek arreeedakr raeddlkkkk alssmganys sylakadqkr gkkqtaremk
      181 kkilaerrkp lnidhlgedk lrdkakelwe tlhqleidkf efgeklkrqk ydittlrsri
      241 dqaqkhskka gtpakgkvgg rwk
//
LOCUS       XP_047284912              66 aa            linear   PRI 20-MAR-2023
DEFINITION  killer cell lectin-like receptor subfamily F member 1 isoform X2
            [Homo sapiens].
ACCESSION   XP_047284912
VERSION     XP_047284912.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428956.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..66
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..66
                     /product="killer cell lectin-like receptor subfamily F
                     member 1 isoform X2"
                     /calculated_mol_wt=7450
     CDS             1..66
                     /gene="KLRF1"
                     /gene_synonym="CLEC5C; NKp80"
                     /coded_by="XM_047428956.1:65..265"
                     /db_xref="GeneID:51348"
                     /db_xref="HGNC:HGNC:13342"
                     /db_xref="MIM:605029"
ORIGIN      
        1 mqdeerymtl nvqskkrssa qtsqltfkdy svtlhwykil lgisgtvngi ltltlislil
       61 lekift
//
LOCUS       XP_047285400             738 aa            linear   PRI 20-MAR-2023
DEFINITION  caprin-2 isoform X24 [Homo sapiens].
ACCESSION   XP_047285400
VERSION     XP_047285400.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429444.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..738
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..738
                     /product="caprin-2 isoform X24"
                     /calculated_mol_wt=82309
     Region          2..112
                     /region_name="Caprin-1_dimer"
                     /note="Caprin-1 dimerization domain; pfam18293"
                     /db_xref="CDD:436391"
     Region          <118..366
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          417..732
                     /region_name="Caprin-1_C"
                     /note="Cytoplasmic activation/proliferation-associated
                     protein-1 C term; pfam12287"
                     /db_xref="CDD:432456"
     CDS             1..738
                     /gene="CAPRIN2"
                     /gene_synonym="C1QDC1; EEG-1; EEG1; RNG140"
                     /coded_by="XM_047429444.1:391..2607"
                     /db_xref="GeneID:65981"
                     /db_xref="HGNC:HGNC:21259"
                     /db_xref="MIM:610375"
ORIGIN      
        1 mlkleaekkk lrtilqvqyv lqnltqehvq kdfkgglnga vylpskeldy likfskltcp
       61 erneslsved qmeqsslyfw dllegsekav vgttykhlkd llskllnsgy fesipvpkna
      121 kekevpleee mliqsekktq lsktesvkes eslmefaqpe iqpqeflnrr ymtevdysnk
      181 qgeeqpwead yarkpnlpkr wdmltepdgq ekkqesfksw easgkhqevs kpavsleqrk
      241 qdtsklrstl peeqkkqeis kskpspsqwk qdtpkskagy vqeeqkkqet pklwpvqlqk
      301 eqdpkkqtpk swtpsmqseq nttkswttpm ceeqdskqpe tpkswennve sqkhsltsqs
      361 qispkswgva taslipndql lprklntepk dvpkpvhqpv gssstlpkdp vlrkeklqdl
      421 mtqiqgtcnf mqesvldfdk pssaiptsqp psatpgspva skeqnlssqs dflqeplqat
      481 sspvtcssna clvttdqass gsetefmtse tpeaaippgk qpsslaspnp pmakgseqgf
      541 qsppassssv tintapfqam qtvfnvnapl pprkeqeike spyspgynqs fttastqtpp
      601 qcqlpsihve qtvhsqetaa nyhpdgtiqv sngslafypa qtnvfprptq pfvnsrgsvr
      661 gctrggrlit nsyrspggyk gfdtyrglps isngnysqlq fqareysgap ysqrdnfqqc
      721 ykrggtsggp ransrvad
//
LOCUS       XP_047286541            1499 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger MYM-type protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047286541
VERSION     XP_047286541.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430585.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1499
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..1499
                     /product="zinc finger MYM-type protein 2 isoform X1"
                     /calculated_mol_wt=168131
     Region          449..485
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          490..531
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          542..578
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          584..624
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          653..692
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          756..793
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          844..880
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          886..921
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          1314..1482
                     /region_name="DUF3504"
                     /note="Domain of unknown function (DUF3504); pfam12012"
                     /db_xref="CDD:432262"
     CDS             1..1499
                     /gene="ZMYM2"
                     /gene_synonym="FIM; MYM; NECRC; RAMP; SCLL; ZNF198"
                     /coded_by="XM_047430585.1:1830..6329"
                     /db_xref="GeneID:7750"
                     /db_xref="HGNC:HGNC:12989"
                     /db_xref="MIM:602221"
ORIGIN      
        1 mtdastlild fpasrmamvs dnreiekspi hlggkitnil scnptknrqg etkatslpsl
       61 reswkwfstm tsaeddqesp salsgaslae seeentpipy mcillsavvt wipsldllvf
      121 fgmdtssvgg leltdqtpvl lgstamatsl tnvgnsfsgp anplvsrsnk fqnssveddd
      181 dvvfiepvqp pppsvpvvad qrtitftssk neelqgndsk itpsskelas qkgsvsetiv
      241 iddeedmetn qgqeknssnf ierrppetkn rtndvdfsts sfsrskvnag mgnsgittep
      301 dseiqianvt tletgvssvn dgqlentdgr dmnlmithvt slqntnlgdv snglqssnfg
      361 vniqtytpsl tsqtktgvgp fnpgrmnvag dvfqngesat hhnpdswisq sasfprnqkq
      421 pgvdslspva slpkqifqps vqqqptkpvk vtcanckkpl qkgqtayqrk gsahlfcstt
      481 clssfshkpa pkklcvmckk dittmkgtiv aqvdssesfq efcstsclsl yedkqnptkg
      541 alnksrctic gklteirhev sfknmthklc sdhcfnryrm anglimncce qcgeylpskg
      601 agnnvlvidg qqkrfccqsc vseykqvgsh psflkevrdh mqdsflmqpe kygklttctg
      661 crtqcrffdm tqcigpngym epycstacmn shktkyaksq slgiichfck rnslpqyqat
      721 mpdgklynfc nsscvakfqa lsmqsspngq fvapsdiqlk cnycknsfcs kpeilewenk
      781 vhqfcsktcs ddykklhciv tyceycqeek tlhetvnfsg vkrpfcsegc kllykqdfar
      841 rlglrcvtcn ycsqlckkga tkeldgvvrd fcsedcckkf qdwyykaarc dccksqgtlk
      901 ervqwrgemk hfcdqhcllr fycqqnepnm ttqkgpenlh ydqgcqtsrt kmtgsappps
      961 ptpnkemknk avlckpltmt katyckphmq tkscqtddtw rteyvpvpip vpvyipvpmh
     1021 mysqnipvpt tvpvpvpvpv flpapldsse kipaaieelk skvssdaldt elltmtdmms
     1081 edegktettn insviietdi igsdllknsd petqssmpdv pyepdldiei dfpraaeeld
     1141 menefllppv fgeeyeeqpr prskkkgakr kavsgyqshd dssdnsecsf pfkytygvna
     1201 wkhwvktrql dedllvldel kssksvklke dllshttael nyglahfvne irrpngenya
     1261 pdsiyylclg iqeylcgsnr kdnifidpgy qtfeqelnki lrswqpsilp dgsifsrvee
     1321 dylwrikqlg shspvallnt lfyfntkyfg lktveqhlrl sfgtvfrhwk knpltmenka
     1381 clryqvsslc gtdnedkitt gkrkheddep vfeqientan psrcpvkmfe cylskspqnl
     1441 nqrmdvfylq pecssstdsp vwytstsldr ntlenmlvrv llvkdiydkd nyeldedtd
//
LOCUS       XP_016876422             462 aa            linear   PRI 20-MAR-2023
DEFINITION  cholesterol 24-hydroxylase isoform X2 [Homo sapiens].
ACCESSION   XP_016876422
VERSION     XP_016876422.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017020933.3
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 15% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..462
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..462
                     /product="cholesterol 24-hydroxylase isoform X2"
                     /calculated_mol_wt=52397
     Region          56..446
                     /region_name="CYP46A1-like"
                     /note="cytochrome P450 family 46, subfamily A, polypeptide
                     1, also called cholesterol 24-hydroxylase, and similar
                     cytochrome P450s; cd20613"
                     /db_xref="CDD:410706"
     Site            order(66,71,87..88,96,100,107,154,261,264..265,268..269,
                     272,329,332,391..393,397..401,404..405,408)
                     /site_type="other"
                     /note="heme binding site [chemical binding]"
                     /db_xref="CDD:410706"
     Site            order(70..73,83,88,184,187,188,264,329..331,333,436..437)
                     /site_type="other"
                     /note="chemical substrate binding pocket [chemical
                     binding]"
                     /db_xref="CDD:410706"
     CDS             1..462
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /coded_by="XM_017020933.3:278..1666"
                     /db_xref="GeneID:10858"
                     /db_xref="HGNC:HGNC:2641"
                     /db_xref="MIM:604087"
ORIGIN      
        1 mrlvavcskm cfwiglrsmd llcgstsstk pqsssrvlsr lssislasci lkfcyqkflm
       61 stkynkdskm yralqtvfge rlfgqglvse cnyerwhkqr rvidlafsrs slvslmetfn
      121 ekaeqlveil eakadgqtpv smqdmltyta mdilakaafg metsmllgaq kplsqavklm
      181 legitasrnt lakflpgkrk qlrevresir flrqvgrdwv qrrrealkrg eevpadiltq
      241 ilkaeegaqd deglldnfvt ffiaghetsa nhlaftvmel srqpeivarl qaevdevigs
      301 kryldfedlg rlqylsqvlk eslrlyppaw gtfrlleeet lidgvrvpgn tpllfstyvm
      361 grmdtyfedp ltfnpdrfgp gapkprftyf pfslghrsci gqqfaqmevk vvmakllqrl
      421 efrlvpgqrf glqeqatlkp ldpvlctlrp rgwqpapppp pc
//
LOCUS       XP_047287063             644 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and BTB domain-containing protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047287063
VERSION     XP_047287063.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431107.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..644
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..644
                     /product="zinc finger and BTB domain-containing protein 1
                     isoform X2"
                     /calculated_mol_wt=73552
     Region          3..116
                     /region_name="BTB_POZ_ZBTB1"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in zinc finger and
                     BTB domain-containing protein 1 (ZBTB1); cd18192"
                     /db_xref="CDD:349501"
     Region          536..574
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(536,539,552,574)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(541,543,545,547..548,551..552,573,585,587,591..592,
                     595..596,599,613,615,617,619..620,623..624,627)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          580..600
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          608..628
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..644
                     /gene="ZBTB1"
                     /gene_synonym="ZNF909"
                     /coded_by="XM_047431107.1:682..2616"
                     /db_xref="GeneID:22890"
                     /db_xref="HGNC:HGNC:20259"
                     /db_xref="MIM:616578"
ORIGIN      
        1 makpshssyv lqqlnnqrew gflcdcciai ddiyfqahka vlaacssyfr mffmnhqhst
       61 aqlnlsnmki saecfdlilq fmylgkimta pssfeqfkva mnylqlynvp dclediqdad
      121 cssskcsssa sskqnskmif gvrmyedtva rngneanrwc aepsstvntp hnreadeesl
      181 qlgnfpeplf dvckkssvsk lstpkervsr rfgrsftcds cgfgfscekl ldehvltctn
      241 rhlyqntrsy hrivdirdgk dsnikaefge kdssktfsaq tdkyrgdtsq aaddsasttg
      301 srksstvese iaseeksraa erkriiikme pediptdelk dfniikvtdk dcnestdnde
      361 ledepeepfy ryyveedvsi kksgrktlkp rmsvsaderg glenmrppnn sspvqedaen
      421 ascelcglti teedlsshyl akhienicac gkcgqilvkg rqlqehaqrc gepqdltmng
      481 lgnteekmdl eenpdeqsei rdmfvemldd frdnhyqins iqkkqlfkhs acpfrcpncg
      541 qrfetenlvv ehmsscldqd mfksaimeen erdhrrkhfc nlcgkgfyqr chlrehytvh
      601 tkekqfvcqt cgkqflrerq lrlhndmhkg masgeigpsk pvek
//
LOCUS       XP_011535254             543 aa            linear   PRI 20-MAR-2023
DEFINITION  spermatogenesis-associated protein 7 isoform X3 [Homo sapiens].
ACCESSION   XP_011535254
VERSION     XP_011535254.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011536952.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..543
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..543
                     /product="spermatogenesis-associated protein 7 isoform X3"
                     /calculated_mol_wt=61417
     Region          4..364
                     /region_name="HSD3"
                     /note="Spermatogenesis-associated protein 7, or HSD3;
                     pfam15244"
                     /db_xref="CDD:434566"
     CDS             1..543
                     /gene="SPATA7"
                     /gene_synonym="HEL-S-296; HSD-3.1; HSD3; LCA3; RP94"
                     /coded_by="XM_011536952.2:163..1794"
                     /db_xref="GeneID:55812"
                     /db_xref="HGNC:HGNC:20423"
                     /db_xref="MIM:609868"
ORIGIN      
        1 mdgsrraavd csvpvsvsts ikyadqqrre klkkelaqce kefkltktam ranyknnsks
       61 lfntlqkpsg epqieddmlk eemngfssfa rslvpsserl hlslhksskv itngpeknss
      121 sspssvdyaa sgprklssga lygrrprstf pnshrfqlvi skapsgdlld khselfsnkq
      181 lpftprtlkt eaksflsqyr yytpakrkkd ftdqrieaet qtelsfksel gtaetknmtd
      241 semnikqvas ncvtydakek iaplpleghd stwdeikdda lqhsspramc qyslkppstr
      301 kiysdeeell ylsfiedvtd eilklglfsn rflerlferh ikqnkhleee kmrhllhvlk
      361 vdlgctseen svkqndvdml nvfdfekagn sepnelknes evtiqqerqq yqkaldmlls
      421 apkdeneifp spteffmpiy kskhsegvii qqvndetnle tstldenhps isdsltdret
      481 svnviegdsd pekveisngl cglntspsqs vqfssvkgdn nhdmelstlk imemsiedcp
      541 ldv
//
LOCUS       XP_024306026            1548 aa            linear   PRI 20-MAR-2023
DEFINITION  polycystic kidney disease protein 1-like 3 isoform X5 [Homo
            sapiens].
ACCESSION   XP_024306026
VERSION     XP_024306026.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024450258.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1548
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..1548
                     /product="polycystic kidney disease protein 1-like 3
                     isoform X5"
                     /calculated_mol_wt=174427
     Region          450..488
                     /region_name="GPS"
                     /note="GPCR proteolysis site, GPS, motif; pfam01825"
                     /db_xref="CDD:426458"
     Region          559..675
                     /region_name="PLAT_polycystin"
                     /note="PLAT/LH2 domain of polycystin-1 like proteins.
                     Polycystins are a large family of membrane proteins
                     composed of multiple domains, present in fish,
                     invertebrates, mammals, and humans that are widely
                     expressed in various cell types and whose biological...;
                     cd01752"
                     /db_xref="CDD:238850"
     Region          <1262..1494
                     /region_name="PKD_channel"
                     /note="Polycystin cation channel; pfam08016"
                     /db_xref="CDD:400395"
     CDS             1..1548
                     /gene="PKD1L3"
                     /coded_by="XM_024450258.1:194..4840"
                     /db_xref="GeneID:342372"
                     /db_xref="HGNC:HGNC:21716"
                     /db_xref="MIM:607895"
ORIGIN      
        1 mpavpilwea ksktlchpis qfpsvlssit sqvtsaasep ssqplpvitq ltmpvsvtha
       61 gqslaettss pkeeghpntf tsylqvslqk asgqvideia gnfsravhgl qalnklqeac
      121 eflqkltalt prfskpaqvn linsliylse ellripfqnn nslgfkvppt vcpfhslnnv
      181 tkagegswle skrhtepved ilemslvefg nigeafleqn qspessvtlt sanatlllsr
      241 qnistlplss ytlghpapvr lgfpsalalk ellnkhpgvn vqitglafnp fkdldnrniv
      301 gsigsvllsa nrkllqvhdl medieimlwr nvslethpts lnmsthqlti tvnvtsleks
      361 livsidpdsp llmtlylgfq yqpncthfhl nitlpkdkvw qkdeeytwvl npehlqhgig
      421 tyyitavlse rqegaqqtps lvsvitavtq cyyweihnqt wssagcqvgp qstilrtqcl
      481 cnhltffasd ffvvprtvnv edtiklflrv tnnpvgvsll asllgfyvit vvwarkkdqa
      541 dmqkvkvtvl adndpsaqfh yliqvytgyr rsaattakvv itlygsegrs ephhlcdpqk
      601 tvferggldv fllttwtslg nlhslrlwhd nsgvspswyv sqvivcdmav krkwhflcnc
      661 wlavdlgdce ldrvfipvsk relfsfrhlf ssmivekftq dylwlsiatr hpwnqftrvq
      721 rlsccmtlll cnmvinvmfw kinsttakrd eqmrpfavaw sellvsihta vilfpinlvi
      781 grlfpliepq etlplfppiq asclsdasve plsatmvvee lketvrfllr rntyllskce
      841 qppwsswdit klvkllsslv sshlegqgch qqgerhwarv vpenhhhfcc ylhrvlqrlk
      901 shlgtlgltq ghqscdflda asqlqklqel lethilpteq epsrevtsfa ilsseegkkp
      961 isnglskwlt svcwlllgft slasafftal yslelskdqa tswmisiils vlqnifisqp
     1021 vkvvfftfly slmmsrmprl nkeneqqtkr ilallakcss svpgsrdknn pvyvapains
     1081 ptkhpertlk kkklfkltgd ilvqilfltl lmtaiysakn snrfylhqai wktfshqfse
     1141 ikllqdfypw anhillpsly gdyrgknavl epshckcgvq lifqiprtkt yekvdegqla
     1201 fcdnghtcgr pkslfpglhl rrfsyicspr pmvliptdel herltsknen gfsyimrgaf
     1261 ftslrlesft slqmskkgcv wsiisqviyy llvcyyafiq gcqlkqqkwr fftgkrnild
     1321 tsiilisfil lgldmksisl hkknmaryrd dqdrfisfye avkvnsaath lvgfpvllat
     1381 vqlwnllrhs prlrvisrtl srawdevvgf lliililltg yaiafnllfg csisdyrtff
     1441 ssavtvvgll mgishqeevf aldpvlgtfl iltsvilmvl vvinlfvsai lmafgkerks
     1501 lkkeaalidt llqklsnllg iswpqktsse qaattavgsd tevldelp
//
LOCUS       XP_011522085             231 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 28 isoform X5 [Homo sapiens].
ACCESSION   XP_011522085
VERSION     XP_011522085.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523783.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..231
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..231
                     /product="TBC1 domain family member 28 isoform X5"
                     /calculated_mol_wt=26016
     Region          2..>225
                     /region_name="COG5210"
                     /note="GTPase-activating protein [General function
                     prediction only]"
                     /db_xref="CDD:227535"
     Region          143..>223
                     /region_name="RabGAP-TBC"
                     /note="Rab-GTPase-TBC domain; cl02495"
                     /db_xref="CDD:445800"
     CDS             1..231
                     /gene="TBC1D28"
                     /coded_by="XM_011523783.4:178..873"
                     /db_xref="GeneID:254272"
                     /db_xref="HGNC:HGNC:26858"
ORIGIN      
        1 msteaalest dhlfpkpncl agvvpegasl arrhpvpdst clqvprtahr gdftlskwtp
       61 fvlpgqghra gaavdlgheq vdvrkytnnl givhemelpr vsalevkqrr keskrtnkwq
      121 kmladwtkyr stkklsqrvc kviplavrgr alsllldidk iksqnpgkyk vmkekgkrss
      181 riihciqldv shtlqkhmmf iqrfgvkqqe lcdilvaysa ynptipgres c
//
LOCUS       XP_047292455             219 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylcholine transfer protein isoform X1 [Homo sapiens].
ACCESSION   XP_047292455
VERSION     XP_047292455.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436499.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..219
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..219
                     /product="phosphatidylcholine transfer protein isoform X1"
                     /calculated_mol_wt=25397
     Region          4..194
                     /region_name="START_STARD2-like"
                     /note="Lipid-binding START domain of mammalian STARD2 and
                     related proteins; cd08910"
                     /db_xref="CDD:176919"
     Site            order(33..34,41,54,56,68,72,78,84,101,103,105,114,116,155,
                     157,159,171,173,175,190..192)
                     /site_type="active"
                     /note="PtdCho binding site [active]"
                     /db_xref="CDD:176919"
     CDS             1..219
                     /gene="PCTP"
                     /gene_synonym="PC-TP; STARD2"
                     /coded_by="XM_047436499.1:54..713"
                     /db_xref="GeneID:58488"
                     /db_xref="HGNC:HGNC:8752"
                     /db_xref="MIM:606055"
ORIGIN      
        1 melaagsfse eqfweacael qqpalagadw qllvetsgis iyrlldkktg lyeykvfgvl
       61 edcsptllad iymdsdyrkq wdqyvkelye qecngetvvy wevkypfpms nrdyvylrqr
      121 rdldmegrki hvilarstsm pqlgersgvi rvkqykqsla iesdgkkgsk vfmyyfdnpg
      181 gqipswlinw aaknqsrtkr eaqnqrdlik flanpnilq
//
LOCUS       XP_011523599             531 aa            linear   PRI 20-MAR-2023
DEFINITION  CDK5 regulatory subunit-associated protein 3 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011523599
VERSION     XP_011523599.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011525297.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..531
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..531
                     /product="CDK5 regulatory subunit-associated protein 3
                     isoform X1"
                     /calculated_mol_wt=59458
     Region          29..528
                     /region_name="DUF773"
                     /note="Protein of unknown function (DUF773); pfam05600"
                     /db_xref="CDD:428535"
     CDS             1..531
                     /gene="CDK5RAP3"
                     /gene_synonym="C53; HSF-27; IC53; LZAP; MST016;
                     OK/SW-cl.114; PP1553"
                     /coded_by="XM_011525297.1:57..1652"
                     /db_xref="GeneID:80279"
                     /db_xref="HGNC:HGNC:18673"
                     /db_xref="MIM:608202"
ORIGIN      
        1 mrrqsmtsat rdlhtaldgk atqggkkdhq hvpidiqtsk lldwlvdrrh cslkwqslvl
       61 tirekinaai qdmpeseeia qllsgsyihy fhclrildll kgteastkni fgryssqrmk
      121 dwqeiialye kdntylvels sllvrnvnye ipslkkqiak cqqlqqeysr keeecqagaa
      181 emreqfyhsc kqygitgenv rgellalvkd lpsqlaeiga aaqqslgeai dvyqasvgfv
      241 cespteqvlp mlrfvqkrgn stvyewrtgt epsvverphl eelpeqvaed aidwgdfgve
      301 avsegtdsgi saeaagidwg ifpesdskdp ggdgidwgdd avalqitvle agtqapegva
      361 rgpdaltlle ytetrnqfld elmeleifla qravelseea dvlsvsqfql apailqgqtk
      421 ekmvtmvsvl edligkltsl qlqhlfmila spryvdrvte flqqklkqsq llalkkelmv
      481 qkqqealeeq aalepkldll lektkelqkl ieadiskrys grpvnlmgts l
//
LOCUS       XP_047292866            1880 aa            linear   PRI 20-MAR-2023
DEFINITION  glutamine-rich protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047292866
VERSION     XP_047292866.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436910.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1880
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1880
                     /product="glutamine-rich protein 2 isoform X1"
                     /calculated_mol_wt=203469
     Region          <448..980
                     /region_name="Glutenin_hmw"
                     /note="High molecular weight glutenin subunit; pfam03157"
                     /db_xref="CDD:367362"
     Region          <1176..1544
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          1419..1598
                     /region_name="DUF4795"
                     /note="Domain of unknown function (DUF4795); pfam16043"
                     /db_xref="CDD:435095"
     CDS             1..1880
                     /gene="QRICH2"
                     /gene_synonym="SPGF35"
                     /coded_by="XM_047436910.1:279..5921"
                     /db_xref="GeneID:84074"
                     /db_xref="HGNC:HGNC:25326"
                     /db_xref="MIM:618304"
ORIGIN      
        1 mppattvslr eladlsigtp evgavnftal htlivamlkn ldlqntridf qpsspepsrs
       61 lqsvrssfsi phlpapkevp kgaprekrrg vgqapssale sqvkdlggqv edlskqlkrv
      121 dgqvqgiath vqhfsqasgl dlaalewpee qevgvrafdr vrtgsimkda aeelsfarvl
      181 lqrvdelekl fkdreqflel vsrklslvpg aeevtmvtwe eleqaitdgw rasqagsetl
      241 mgfskhggft sltspegtls gdstkqpsie qaldsasglg pdrtasgsgg tahpsdgvss
      301 reqskvpsgt grqqqprard eagvprlhqs stfqfksdsd rhrsreklts tqprrnarpg
      361 pvqqdlplar dqpssvpasq sqvhlrpdrr gleptgmnqp glvpastyph gvvplsmgql
      421 gvpppemddr elipfvvdeq rmlppsvpgr dqqglelpst dqhglvsvsa yqhgmtfpgt
      481 dqrsmeplgm dqrgcvisgm gqqglvppgi dqqgltlpvv dqhglvlpft dqhglvspgl
      541 mpisadqqgf vqpsleatgf iqpgteqhdl iqsgrfqral vqrgayqpgl vqpgadqrgl
      601 vrpgmdqsgl aqpgadqrgl vwpgmdqsgl aqpgrdqhgl iqpgtgqhdl vqsgtgqgvl
      661 vqpgvdqpgm vqpgrfqral vqpgayqpgl vqpgadqidv vqpgadqhgl vqsgadqsdl
      721 aqpgavqhgl vqpgvdqrgl aqpradhqrg lvppgadqrg lvqpgadqhg lvqpgvdqhg
      781 laqpgevqrs lvqpgivqrg lvqpgavqrg lvqpgavqrg lvqpgvdqrg lvqpgavqrg
      841 lvqpgavqhg lvqpgadqrg lvqpgvdqrg lvqpgvdqrg lvqpgmdqrg liqpgadqpg
      901 lvqpgagqlg mvqpgigqqg mvqpqadphg lvqpgayplg lvqpgaylhd lsqsgtyprg
      961 lvqpgmdqyg lrqpgayqpg liapgtklrg sstfqadstg fisvrpyqhg mvppgreqyg
     1021 qvspllasqg laspgidrrs lvppetyqqg lmhpgtdqhs piplstglgs thpdqqhvas
     1081 pgpgehdqvy pdaaqhghaf slfdshdsmy pgyrgpgyls adqhgqegld pnrtrasdrh
     1141 gipaqkapgq dvtlfrspds vdrvlsegse vssevlserr nslrrmsssf ptavetfhlm
     1201 gelsslyvgl kesmkdldee qagqtdleki qfllaqmvkr tippelqeql ktvktlakev
     1261 wqekakverl qrilegegnq eagkelkage lrlqlgvlrv tvadiekela elresqdrgk
     1321 aamensvsea slylqdqldk lrmiiesmlt ssstllsmsm aphkahtlap gqidpeatcp
     1381 acsldvshqv stlvrryeql qdmvnslavs rpskkaklqr qdeellgrvq sailqvqgdc
     1441 eklnittsnl iedhrqkqkd iamlyqglek lekekanreh lemeidvkad ksalatkvsr
     1501 vqfdatteql nhmmqelvak msgqeqdwqk mldrlltemd nkldrleldp vkqlledrwk
     1561 slrqqlrerp plyqadeaaa mrrqllahfh clscdrplet pvtghaipvt pagpglpghh
     1621 sirpytvfel eqvrqhsrnl klgsafprgd laqmeqsvgr lrsmhskmlm niekvqihfg
     1681 gstkassqii rellhaqclg spcykrvtdm adytystvpr rcggshtlty pyhrsrpqhl
     1741 prglypteei qiamkhdevd ilgldghiyk grmdtrlpgi lrkdssgtsk rksqqprphv
     1801 hrppslssng qlpsrpqsaq isagntsgsf plggascqas plalpapfpa hvgplsprrg
     1861 eglgaeggdg cgkeeprvte
//
LOCUS       XP_047292919             827 aa            linear   PRI 20-MAR-2023
DEFINITION  RING finger protein unkempt homolog isoform X2 [Homo sapiens].
ACCESSION   XP_047292919
VERSION     XP_047292919.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436963.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..827
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..827
                     /product="RING finger protein unkempt homolog isoform X2"
                     /calculated_mol_wt=90286
     Region          65..98
                     /region_name="zf_CCCH_5"
                     /note="Unkempt Zinc finger domain 1 (Znf1); pfam18384"
                     /db_xref="CDD:375810"
     Region          <153..347
                     /region_name="CTH1"
                     /note="CCCH-type Zn-finger protein [General function
                     prediction only]; COG5063"
                     /db_xref="CDD:227395"
     Region          323..349
                     /region_name="zf-CCCH"
                     /note="Zinc finger C-x8-C-x5-C-x3-H type (and similar);
                     pfam00642"
                     /db_xref="CDD:425793"
     Region          670..>775
                     /region_name="COG4372"
                     /note="Uncharacterized conserved protein, contains DUF3084
                     domain [Function unknown]"
                     /db_xref="CDD:226809"
     Region          782..823
                     /region_name="RING-HC_UNK"
                     /note="RING finger, HC subclass, found in RING finger
                     protein unkempt (UNK) and similar proteins; cd16771"
                     /db_xref="CDD:438427"
     CDS             1..827
                     /gene="UNK"
                     /gene_synonym="UNKEMPT; ZC3H5; ZC3HDC5"
                     /coded_by="XM_047436963.1:4879..7362"
                     /db_xref="GeneID:85451"
                     /db_xref="HGNC:HGNC:29369"
                     /db_xref="MIM:616375"
ORIGIN      
        1 mlklvyicfl flflflrwsf tlsprlecgg aisahynlcl pgsssclpqp pkqlglqaca
       61 tiprylkefr teqcplfvqh kctqhrpytc fhwhfvnqrr rrsirrrdgt fnyspdvyct
      121 kydeatglcp egdecpflhr ttgdterryh lryyktgici hetdskgnct knglhcafah
      181 gphdlrspvy direlqamea lqngqttveg siegqsagaa shamiekils eeprwqetay
      241 vlgnyktepc kkpprlcrqg yacpyyhnsk drrrsprkhk yrsspcpnvk hgdewgdpgk
      301 cengdacqyc htrteqqfhp eiykstkcnd mqqsgscprg pfcafahveq pplsddlqps
      361 savssptqpg pvlympsaag dsvpvspssp hapdlsallc rnsslgspsn lcgsppgsir
      421 kppnlegivf pgesglapgs ykkapgfere dqaklkphsl eprsqeqpll qpkqdmlgil
      481 pagspltssi sssitsslaa tppspvgtss vpgmnanalp fyptsdtves viesalddld
      541 lnefgvaale ktfdnstvph pgsitiggsl lqssapvnip gslgssasfh saspsppvsl
      601 sshflqqpqg hlsqsentfl gtsashgslg lngmnssiwe hfasgsfspg tspaflsgpg
      661 aaelarlrqe ldeanstikq weeswkqakq acdawkkeae eagerasaag aecelareqr
      721 dalevqvkkl qeelerlhag pepqalpafs dlealslstl yslqkqlrah leqvdkavfh
      781 mqsvkclkcq eqkravlpcq haalcelcae gsecpicqpg rahtlqs
//
LOCUS       XP_011524530             259 aa            linear   PRI 20-MAR-2023
DEFINITION  haloacid dehalogenase-like hydrolase domain-containing protein 2
            isoform X1 [Homo sapiens].
ACCESSION   XP_011524530
VERSION     XP_011524530.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011526228.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..259
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..259
                     /product="haloacid dehalogenase-like hydrolase
                     domain-containing protein 2 isoform X1"
                     /calculated_mol_wt=28405
     Region          8..255
                     /region_name="HAD_PPase"
                     /note="inorganic pyrophosphatase similar to a human
                     phospholysine phosphohistidine inorganic pyrophosphate
                     phosphatase (LHPP); cd07509"
                     /db_xref="CDD:319812"
     Site            order(13..17,46..51,144,179,203..205,208..209)
                     /site_type="active"
                     /db_xref="CDD:319812"
     Site            13..17
                     /site_type="other"
                     /note="HAD signature motif I"
                     /db_xref="CDD:319812"
     CDS             1..259
                     /gene="HDHD2"
                     /gene_synonym="3110052N05Rik; HEL-S-301"
                     /coded_by="XM_011526228.4:194..973"
                     /db_xref="GeneID:84064"
                     /db_xref="HGNC:HGNC:25364"
ORIGIN      
        1 maacralkav lvdlsgtlhi edaavpgaqe alkrlrgasv iirfvtnttk eskqdllerl
       61 rklefdised eiftsltaar sllerkqvrp mllvddralp dfkgiqtsdp navvmglape
      121 hfhyqilnqa frllldgapl iaihkaryyk rkdglalgpg pfvtaleyat dtkatvvgkp
      181 ektfflealr gtgcepeeav migddcrddv ggaqdvgmlg ilvktgkyra sdeekinppp
      241 yltcesfpha vdhilqhll
//
LOCUS       XP_047294248             791 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 600 isoform X1 [Homo sapiens].
ACCESSION   XP_047294248
VERSION     XP_047294248.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438292.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..791
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..791
                     /product="zinc finger protein 600 isoform X1"
                     /calculated_mol_wt=90962
     Region          24..60
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          <154..503
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          233..253
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          261..281
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          289..309
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          317..337
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(322,324,326,328..329,332..333,336,350,352,356..357,
                     360..361,364,378,380,382,384..385,388..389,392)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          341..748
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          345..365
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          373..393
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          401..421
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          429..449
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          457..477
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          485..505
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          513..533
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          541..561
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(546,548,550,552..553,556..557,560,574,576,580..581,
                     584..585,588,602,604,606,608..609,612..613,616)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          569..589
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          597..617
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          625..645
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          653..673
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(658,660,662,664..665,668..669,672,686,688,692..693,
                     696..697,700,714,716,718,720..721,724..725,728)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          681..701
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          709..729
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          737..757
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          749..774
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          765..785
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..791
                     /gene="ZNF600"
                     /gene_synonym="KR-ZNF1"
                     /coded_by="XM_047438292.1:996..3371"
                     /db_xref="GeneID:162966"
                     /db_xref="HGNC:HGNC:30951"
ORIGIN      
        1 mlceeaaqkr kgkepgmalp qgrltfrdva iefslaewkc lnpsqralyr evmlenyrnl
       61 eavdisskrm mkevlstgqg ntevihtgtl qryqsyhigd fcfqeiekei hdiefqcqed
      121 erngheapmt kikkltgstd qhdhrhagnk pikdqlgssf yshlpelhii qikgkignqf
      181 ekstsdapsv stsqrisprp qihisnnygn nspnssllpq kqevymreks fqcnesgkaf
      241 ncssllrkhq iphlgdkqyk cdvcgklfnh kqyltchcrc htgekpykcn ecgksfsqvs
      301 sltchrrlht avkshkcnec gkifgqnsal vihkaihtge kpykcnecdk afnqqsnlar
      361 hrrihtgekp ykceecdkvf srkstleshk rihtgekpyk ckvcdtaftw nsqlarhkri
      421 htgektykcn ecgktfshks slvchhrlhg geksykckvc dkafawnshl vrhtrihsgg
      481 kpykcnecgk tfgqnsdlli hksihtgeqp ykyeecekvf scgstlethk iihtgekpyk
      541 ckvcdkafac hsylakhtri hsgekpykcn ecsktfrlrs ylashrrvhs gekpykcnec
      601 sktfsqrsyl hchrrlhsge kpykcnecgk tfshkpslvh hrrlhtgeks ykctvcdkaf
      661 vrnsylarht rihtaekpyk cnecgkafnq qsqlslhhri hageklykce tcdkvfsrks
      721 hlkrhrrihp gkkpykckvc dktfgsdshl kqhtglhtge kpykcnecgk afskqstlih
      781 hqavhgvgkl d
//
LOCUS       XP_011526277             700 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-12 receptor subunit beta-1 isoform X13 [Homo sapiens].
ACCESSION   XP_011526277
VERSION     XP_011526277.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011527975.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..700
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..700
                     /product="interleukin-12 receptor subunit beta-1 isoform
                     X13"
                     /calculated_mol_wt=77158
     Region          487..577
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(568..569,571..572)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..700
                     /gene="IL12RB1"
                     /gene_synonym="CD212; IL-12R-BETA1; IL12RB; IMD30"
                     /coded_by="XM_011527975.3:52..2154"
                     /db_xref="GeneID:3594"
                     /db_xref="HGNC:HGNC:5971"
                     /db_xref="MIM:601604"
ORIGIN      
        1 mfvglfslls fnvfrsgdgv aeprrwqrgs pgavglyvdp meplvtwvvp llflfllsrq
       61 gaacrtsecc fqdppypdad sgsasgprdl rcyrissdry ecswqyegpt agvshflrcc
      121 lssgrccyfa agsatrlqfs dqagvsvlyt vtlwveswar nqtekspevt lqlynsvkye
      181 pplgdikvsk lagqlrmewe tpdnqvgaev qfrhrtpssp wklgdcgpqd ddtesclcpl
      241 emnvaqefql rrrqlgsqgs swskwsspvc vppenppqpq vrfsveqlgq dgrrrltlke
      301 qptqlelpeg cqglapgtev tyrlqlhmls cpckakatrt lhlgkmpyls gaaynvavis
      361 snqfgpglnq twhipadtht epvalnisvg tngttmywpa raqsmtycie wqpvgqdggl
      421 atcsltapqd pdpagmatys wsresgamgq ekcyyitifa sahpekltlw stvlstyhfg
      481 gnasaagtph hvsvknhsld svsvdwapsl lstcpgvlke yvvrcrdeds kqvsehpvqp
      541 tetqvtlsgl ragvaytvqv radtawlrgv wsqpqrfsie vqvsdwliff aslgsflsil
      601 lvgvlgylgl nraarhlcpp lptpcassai efpggketwq winpvdfqee aslqealvve
      661 mswdkgerte plektelpeg apelaldtel sledgdrcdr
//
LOCUS       XP_047295575             818 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 160 isoform X1 [Homo sapiens].
ACCESSION   XP_047295575
VERSION     XP_047295575.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439619.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..818
                     /product="zinc finger protein 160 isoform X1"
                     /calculated_mol_wt=93981
     Region          8..68
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          <216..332
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          259..279
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          287..307
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          315..335
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(320,322,324,326..327,330..331,334,348,350,354..355,
                     358..359,362,376,378,380,382..383,386..387,390)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          327..351
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          343..363
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          367..810
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          371..391
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          399..419
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          427..447
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          455..475
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          483..503
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(488,490,492,494..495,498..499,502,516,518,522..523,
                     526..527,530,544,546,548,550..551,554..555,558)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          511..531
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          539..559
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          567..587
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          595..615
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          623..643
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(628,630,632,634..635,638..639,642,656,658,662..663,
                     666..667,670,684,686,688,690..691,694..695,698)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          651..671
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          679..699
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          707..727
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          735..755
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          763..783
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          791..811
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..818
                     /gene="ZNF160"
                     /gene_synonym="F11; HKr18; HZF5; KR18"
                     /coded_by="XM_047439619.1:4023..6479"
                     /db_xref="GeneID:90338"
                     /db_xref="HGNC:HGNC:12948"
                     /db_xref="MIM:600398"
ORIGIN      
        1 maltqvrltf rdvaiefsqe ewkcldpaqr ilyrdvmlen ywnlvslglc hfdmniisml
       61 eegkepwtvk scvkiarkpr tpecvkgvvt dippkctikd llpkeksste avfhtvvler
      121 hespdiedfs fkepqknvhd fecqwrddtg nykgvlmaqk egkrdqrdrr dienklmnnq
      181 lgvsfhshlp elqlfqgegk myecnqveks tnngssvspl qqipssvqth rskkyhelnh
      241 fslltqrrka nscgkpykcn ecgkaftqns nltshrrihs gekpykcsec gktftvrsnl
      301 tihqvihtge kpykchecgk vfrhnsylat hrrihtgekp ykcnecgkaf rghsnltthq
      361 lihtgekpfk cnecgklftq nshlishwri htgekpykcn ecgkafsvrs slaihqtiht
      421 gekpykcnec gkvfrynsyl grhrrvhtge kpykcnecgk afsmhsnlat hqvihtgtkp
      481 fkcnecskvf tqnsqlanhr rihtgekpyk cnecgkafsv rssltthqai hsgekpykci
      541 ecgksftqks hlrshrgihs gekpykcnec gkvfaqtsql arhwrvhtge kpykcndcgr
      601 afsdrssltf hqaihtgekp ykchecgkvf rhnsylathr rihtgekpyk cnecgkafsm
      661 hsnltthkvi htgekpykcn qcgkvftqns hlanhqrtht gekpyrcnec gkafsvrssl
      721 tthqaihtgk kpykcnecgk vftqnahlan hrrihtgekp yrctecgkaf rvrssltthm
      781 aihtgekryk cnecgkvfrq ssnlashhrm htgekpyk
//
LOCUS       XP_005246309             864 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear body protein SP140 isoform X2 [Homo sapiens].
ACCESSION   XP_005246309
VERSION     XP_005246309.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005246252.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..864
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..864
                     /product="nuclear body protein SP140 isoform X2"
                     /calculated_mol_wt=97921
     Region          38..136
                     /region_name="HSR"
                     /note="HSR domain; pfam03172"
                     /db_xref="CDD:427178"
     Region          256..>476
                     /region_name="PHA03169"
                     /note="hypothetical protein; Provisional"
                     /db_xref="CDD:223003"
     Region          581..657
                     /region_name="SAND"
                     /note="SAND domain; pfam01342"
                     /db_xref="CDD:426213"
     Region          689..730
                     /region_name="PHD_SP110_140"
                     /note="PHD finger found in the Sp100/Sp140 family of
                     nuclear body components; cd15626"
                     /db_xref="CDD:277096"
     Site            order(689,694..695,698..703,710)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:277096"
     Region          754..857
                     /region_name="Bromo_SP100C_like"
                     /note="Bromodomain, SP100C_like subfamily. The SP100C
                     protein is a splice variant of SP100, a major component of
                     PML-SP100 nuclear bodies (NBs), which are poorly
                     understood. It is covalently modified by SUMO-1 and may
                     play a role in processes at the chromatin...; cd05501"
                     /db_xref="CDD:99933"
     Site            order(780,785,788,827,831,836)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99933"
     CDS             1..864
                     /gene="SP140"
                     /gene_synonym="LYSP100; LYSP100-A; LYSP100-B"
                     /coded_by="XM_005246252.3:110..2704"
                     /db_xref="GeneID:11262"
                     /db_xref="HGNC:HGNC:17133"
                     /db_xref="MIM:608602"
ORIGIN      
        1 maqqgqqgqm asgdsnlnfr mvaeiqnveg qnlqeqvcpe pifrffrenk veiasaitrp
       61 fpflmglrdr sfiseqmyeh fqeafrnlvp vtrvmycvls elektfgwsh lealfsrinl
      121 maypdlneiy rsfqnvcyeh splqmnnvnd ledrprllpy gkqensnach emddiavpqe
      181 alsssprcep gfssesceql alpkagggda edapsllpvs cklaiqideg eseempkllp
      241 ydtevlesng midaartyst apgekqgeee grnsprkrnq dkekyqespe grdketfdlk
      301 tpqvtnegep ekglcllpge geegsddcse mcdgeepqea ssslarcgsv sclsaetfdl
      361 ktpqvtnege pekelsllpg egeegsddcs emcdgeerqe assslarrgs vsselenhpm
      421 neegeseela ssllydnvpg aeqsayenek cscvmcfsee vpgspearte sdqacgtmdt
      481 vdiannstlg kpkrkrrkkr ghgwsrmrmr rqensqqndn skadgqvvss ekkanvnlkd
      541 lskirgrkrg kpgtrftqsd raaqkrvrsr asrkhkdetv dfkapllpvt cggvkgilhk
      601 kklqqgilvk ciqtedgkwf tptefeikgg harsknwrls vrcggwplrw lmengflpdp
      661 priryrkkkr ilksqnnssv dpcmrnldec evcrdggelf ccdtcsrvfh edchippvea
      721 ertpwncifc rmkespgsqq ccqesevler qmcpeeqlkc eflllkvycc sessffakip
      781 yyyyireacq glkepmwldk ikkrlnehgy pqvegfvqdm rlifqnhras ykykdfgqmg
      841 frleaefekn fkevfaiqet ngnn
//
LOCUS       XP_011508922             218 aa            linear   PRI 20-MAR-2023
DEFINITION  ly6/PLAUR domain-containing protein 6B isoform X3 [Homo sapiens].
ACCESSION   XP_011508922
VERSION     XP_011508922.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011510620.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..218
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..218
                     /product="ly6/PLAUR domain-containing protein 6B isoform
                     X3"
                     /calculated_mol_wt=24750
     Region          88..193
                     /region_name="UPAR_LY6_2"
                     /note="Ly6/PLAUR domain-containing protein 6, Lypd6;
                     pfam16975"
                     /db_xref="CDD:435685"
     CDS             1..218
                     /gene="LYPD6B"
                     /gene_synonym="CT116; LYPD7"
                     /coded_by="XM_011510620.3:216..872"
                     /db_xref="GeneID:130576"
                     /db_xref="HGNC:HGNC:27018"
ORIGIN      
        1 mdvadyseck pfhcsreepd nhilllkvwc llrrltryks sdrpahkvsm lllchalaia
       61 vvqivifses wafakninfy nvrppldptp fpnsfkcftc enagdnyncn rwaedkwcpq
      121 ntqycltvhh ftshgrstsi tkkcasrsec hfvgchhsrd sehtecrscc egmicnvelp
      181 tnhtnavfav mhaqrtsgss aptlylpvla wvfvlpll
//
LOCUS       XP_047299531             693 aa            linear   PRI 20-MAR-2023
DEFINITION  TOG array regulator of axonemal microtubules protein 2 isoform X9
            [Homo sapiens].
ACCESSION   XP_047299531
VERSION     XP_047299531.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443575.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..693
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..693
                     /product="TOG array regulator of axonemal microtubules
                     protein 2 isoform X9"
                     /calculated_mol_wt=76910
     Region          165..333
                     /region_name="CLASP_N"
                     /note="CLASP N terminal; pfam12348"
                     /db_xref="CDD:432496"
     CDS             1..693
                     /gene="TOGARAM2"
                     /gene_synonym="FAM179A"
                     /coded_by="XM_047443575.1:189..2270"
                     /db_xref="GeneID:165186"
                     /db_xref="HGNC:HGNC:33715"
ORIGIN      
        1 mtfifpnaat iqvtisksar ekmqlkqmke mellrrleep rtgqeltsqc lgsqrafmke
       61 gllplrgsgt lsvptrlsgp crndvsiilr kwasraslps ipisrqeprf arhasanslp
      121 avltlgspew eeeeemdlra ckelrpfsnp elglrdalqc lnssdwqmke kglvsiqrla
      181 achsevltgk lhdvclvvtg evtnlrskvs hlaistlgdl fqalkknmdq eaeeiarcll
      241 qkmadtnefi qraagqslra mvenvtlars lvvltsagvy hrnplirkya aehlsavleq
      301 igaekllsgt rdstdmlvhn lvrlaqdsnq dtrfygrkmv nilmantkfd aflkqslpsy
      361 dlqkvmaaik qqgiedndel psakgrkvlr slvvcenglp ikeglscngp rlvglrstlq
      421 grgemveqlr eltrlleakd frsrmegvgq llelckakte lvtahlvqvf daftprlqds
      481 nkkvnqwale sfakmipllr eslhpmllsi iitvadnlns knsgiyaaav avldamvesl
      541 dnlcllpala grvrflsgra vldvtdrlag gcrfhlvekr rmelrkvkct rslgeeprmc
      601 pgslaegprp qpcavllppg tlppgclhav aglstscsah lwlpcpesll hsssstwgmp
      661 awlwhyllpv cfsrlhptwy hwsvycppll aql
//
LOCUS       XP_047301039            1727 aa            linear   PRI 20-MAR-2023
DEFINITION  methyl-CpG-binding domain protein 5 isoform X2 [Homo sapiens].
ACCESSION   XP_047301039
VERSION     XP_047301039.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445083.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1727
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1727
                     /product="methyl-CpG-binding domain protein 5 isoform X2"
                     /calculated_mol_wt=183553
     Region          21..79
                     /region_name="MBD"
                     /note="MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and
                     BAZ2A-like proteins constitute a family of proteins that
                     share the methyl-CpG-binding domain (MBD). The MBD
                     consists of about 70 residues and is defined as the
                     minimal region required for binding to...; cl00110"
                     /db_xref="CDD:444698"
     Region          1616..1699
                     /region_name="PWWP_MBD5"
                     /note="PWWP domain found in methyl-CpG-binding domain
                     protein 5 (MBD5) and similar proteins; cd20141"
                     /db_xref="CDD:438969"
     Site            order(1629,1632,1651)
                     /site_type="other"
                     /note="putative methyl-histone binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438969"
     Site            1630..1633
                     /site_type="other"
                     /note="PWWP sequence motif"
                     /db_xref="CDD:438969"
     CDS             1..1727
                     /gene="MBD5"
                     /gene_synonym="MRD1"
                     /coded_by="XM_047445083.1:1578..6761"
                     /db_xref="GeneID:55777"
                     /db_xref="HGNC:HGNC:20444"
                     /db_xref="MIM:611472"
ORIGIN      
        1 mnggkecdgg dkegglpaiq vpvgwqrrvd qngvlyvsps gsllscleqv ktylltdgtc
       61 kcglecplil pkvfnfdpga avkqrtaedv kadedvtklc ihkrkiiava tlhksmeaph
      121 pslvltspgg gtnatpvvps raatprsvrn kshegitnsv mpecknpfkl migssnamgr
      181 lyvqelpgsq qqelhpvypr qrlgssehgq kspfrgshgg lpspassgsq iygdgsispr
      241 tdplgspdvf trsnpgfhga pnsspihlnr tplsppsvml hgspvqssca magrtnipls
      301 ptlttkspvm kkpmcnfstn meipramfhh kppqgppppp ppscalqkkp ltsekdplgi
      361 ldpipskpvn qnpviinpts fhsnvhsqvp mmnvsmppav vplpsnlplp tvkpghmnhg
      421 shvqrvqhsa stslspspvt spvhmmgtgi grieaspqrs rssstssdhg nfmmppvgpq
      481 atssgikvpp rsprstigsp rpsmpsspst ksdghhqykd ipnpliagis nvlntpssaa
      541 fptasagsss vksqpgllgm plnqilnqhn aasfpassll saaakaqlan qnklagnnss
      601 sssnsgavag sgnteghstl ntmfpptanm llptgegqsg raalrdklms qqkdalrkrk
      661 qppttvlsll rqsqmdssav pkpgpdllrk qgqgsfpiss msqllqsmsc qsshlssnst
      721 pgcgasntal pcsanqlhft dpsmnssvlq niplrgeavh chnantnfvh snspvpnhhl
      781 aglinqiqas gncgmlsqsg malgnslhpn ppqsristss tpvipnsivs synqtsseag
      841 gsgpsssiai agtnhpaitk ttsvlqdgvi vttaagnplq sqlpigsdfp fvgqehalhf
      901 psnstsnnhl phplnpslls slpislpvnq qhllnqnlln ilqpsagegk seinlhplgf
      961 lnpnvnaala flssdmdgqv lqpvhfqlla allqnqaqaa amlplpsfnl tisdllqqqn
     1021 tplpsltqmt appdhlpsnq sdnsraetll tsplgnplps fagsdttfnp lflpavngas
     1081 glmtlnpqll ggvlnsasan tanhpevsia tssqattttt ttssavaalt vstlggtavv
     1141 smaetllnis nnagntpgpa klnsnsvvpq llnpllgtgl lgdmssinnt lsnhqlthlq
     1201 sllnnnqmfp pnqqqqqllq gyqnlqafqg qstipcpann npmaclfqnf qvrmqedaal
     1261 lnkristqpg ltalpenpnt tlppfqdtpc elqpridpsl gqqvkdglvv ggpgdasvda
     1321 iykavvdaas kgmqvvitta vnsttqispi palsamsaft asigdplnls savsavihgr
     1381 nmggvdhdgr lrnsrgarlp knldhgknvn egdgfeyfks aschtskkqw dgeqsprger
     1441 nrwkyeefld hpghihsspc herpnnvstl pflpgeqhpi llpprncpgd kileenfryn
     1501 nykrtmmsfk erlentverc ahingnrprq srgfgellst akqdlvleeq spsssnslen
     1561 slvkdyihyn gdfnaksvng cvpspsdaks isseddlrnp dspssnelih yrprtfnvgd
     1621 lvwgqikglt swpgklvred dvhnscqqsp eegkvepekl ktltegleay srvrkrnrks
     1681 gklnnhleaa iheamseldk msgtvhqipq gdrqmrppkp krrkisr
//
LOCUS       XP_011531944             470 aa            linear   PRI 20-MAR-2023
DEFINITION  metabotropic glutamate receptor 2 isoform X5 [Homo sapiens].
ACCESSION   XP_011531944
VERSION     XP_011531944.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011533642.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..470
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..470
                     /product="metabotropic glutamate receptor 2 isoform X5"
                     /calculated_mol_wt=51918
     Region          26..470
                     /region_name="PBP1_mGluR_groupII"
                     /note="ligand binding domain of the group II metabotropic
                     glutamate receptor; cd06375"
                     /db_xref="CDD:380598"
     Site            order(57,61,144..145,166..168,216,295,377)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:380598"
     Site            order(96,99,150,153,176,240)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:380598"
     CDS             1..470
                     /gene="GRM2"
                     /gene_synonym="GLUR2; GPRC1B; mGlu2; MGLUR2"
                     /coded_by="XM_011533642.2:1917..3329"
                     /db_xref="GeneID:2912"
                     /db_xref="HGNC:HGNC:4594"
                     /db_xref="MIM:604099"
ORIGIN      
        1 mgsllallal lllwgavaeg pakkvltleg dlvlgglfpv hqkggpaedc gpvnehrgiq
       61 rleamlfald rinrdphllp gvrlgahild scskdthale qaldfvrasl srgadgsrhi
      121 cpdgsyathg daptaitgvi ggsysdvsiq vanllrlfqi pqisyastsa klsdksrydy
      181 fartvppdff qakamaeilr ffnwtyvstv asegdygetg ieafeleara rnicvatsek
      241 vgramsraaf egvvrallqk psarvavlft rsedarella asqrlnasft wvasdgwgal
      301 esvvagsega aegaitiela sypisdfasy fqsldpwnns rnpwfrefwe qrfrcsfrqr
      361 dcaahslrav pfeqeskimf vvnavyamah alhnmhralc pnttrlcdam rpvngrrlyk
      421 dfvlnvkfda pfrpadthne vrfdrfgdgi gryniftylr agsgryryqk
//
LOCUS       XP_006713754            1224 aa            linear   PRI 20-MAR-2023
DEFINITION  intraflagellar transport protein 122 homolog isoform X1 [Homo
            sapiens].
ACCESSION   XP_006713754
VERSION     XP_006713754.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006713691.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1224
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1224
                     /product="intraflagellar transport protein 122 homolog
                     isoform X1"
                     /calculated_mol_wt=139618
     Region          <15..190
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          15..51
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          57..91
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          96..128
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          136..172
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          223..273
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          283..316
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          285..>351
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          324..350
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <692..900
                     /region_name="PEP_TPR_lipo"
                     /note="putative PEP-CTERM system TPR-repeat lipoprotein;
                     TIGR02917"
                     /db_xref="CDD:274350"
     CDS             1..1224
                     /gene="IFT122"
                     /gene_synonym="CED; CED1; CFAP80; FAP80; SPG; WDR10;
                     WDR10p; WDR140"
                     /coded_by="XM_006713691.4:108..3782"
                     /db_xref="GeneID:55764"
                     /db_xref="HGNC:HGNC:13556"
                     /db_xref="MIM:606045"
ORIGIN      
        1 mravltwrdk aehcindiaf kpdgtqlila agsrllvydt sdgtllqplk ghkdtvycva
       61 yakdgkrfas gsadksviiw tsklegilky thndaiqcvs ynpithqlas csssdfglws
      121 peqksvskhk ssskiiccsw tndgqylalg mfngiisirn kngeekvkie rpggslspiw
      181 sicwnpssrw esfwmnrene daedvivnry iqeipstlks avyssqgsea eeeepeeedd
      241 sprddnleer ndilavadwg qkvsfyqlsg kqigkdraln fdpccisyft kgeyillggs
      301 dkqvslftkd gvrlgtvgeq nswvwtcqak pdsnyvvvgc qdgtisfyql ifstvhglyk
      361 dryayrdsmt dvivqhlite qkvrikckel vkkiaiyrnr laiqlpekil iyelysedls
      421 dmhyrvkeki ikkfecnllv vcanhiilcq ekrlqclsfs gvkerewqme sliryikvig
      481 gppgregllv glkngqilki fvdnlfaivl lkqatavrcl dmsasrkkla vvdendtclv
      541 ydidtkellf qepnansvaw ntqcedmlcf sgggylnika stfpvhrqkl qgfvvgyngs
      601 kifclhvfsi savevpqsap myqyldrklf keayqiaclg vtdtdwrela mealegldfe
      661 takkerkkrg etnndlflad vfsyqgkfhe aaklykrsgh enlalemytd lcmfeyakdf
      721 lgsgdpketk mlitkqadwa rnikepkaav emyisagehv kaieicgdhg wvdmlidiar
      781 kldkaerepl llcatylkkl dspgyaaety lkmgdlkslv qlhvetqrwd eafalgekhp
      841 efkddiympy aqwlaendrf eeaqkafhka grqreavqvl eqltnnavae srfndaayyy
      901 wmlsmqcldi aqadpaqkdt mlgkfyhfqr laelyhgyha ihrhtedpfs vhrpetlfni
      961 srfllhslpk dtpsgiskvk ilftlakqsk algayrlarh aydklrglyi parfqksiel
     1021 gtltirakpf hdseelvplc yrcstnnpll nnlgnvcinc rqpfifsass ydvlhlvefy
     1081 leegitdeea islidlevlr pkrddrqlei annssqilrl vetkdsigde dpftaklsfe
     1141 qggsefvpvv vsrlvlrsms rrdvlikrwp pplrwqyfrs llpdasitmc pscfqmfhse
     1201 dyellvlqhg ccpycrrckd dpgp
//
LOCUS       XP_047272574             636 aa            linear   PRI 20-MAR-2023
DEFINITION  TNFAIP3-interacting protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047272574
VERSION     XP_047272574.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416618.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..636
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..636
                     /product="TNFAIP3-interacting protein 1 isoform X1"
                     /calculated_mol_wt=71733
     Region          <214..>251
                     /region_name="MreC"
                     /note="rod shape-determining protein MreC; cl19252"
                     /db_xref="CDD:450281"
     Region          <298..>538
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..636
                     /gene="TNIP1"
                     /gene_synonym="ABIN-1; NAF1; nip40-1; VAN"
                     /coded_by="XM_047416618.1:7662..9572"
                     /db_xref="GeneID:10318"
                     /db_xref="HGNC:HGNC:16903"
                     /db_xref="MIM:607714"
ORIGIN      
        1 megrgpyriy dpggsvpsge asaaferlvk ensrlkekmq gikmlgelle esqmeatrlr
       61 qkaeelvkdn ellpppspsl gsfdplaelt gkdsnvtasp tapacpsdkp apvqkppssg
      121 tssefevvtp eeqnspesss hanamalgpl predgnlmlh lqrlettlsv caeepdhgql
      181 fthlgrmale fnrlaskvhk neqrtsilqt lceqlrkene alkakldkgl eqrdqaaerl
      241 reenlelkkl lmsngnkega sgrpgspkme gtgkkavagq qqasvtagkv pevvalgaae
      301 kkvkmleqqr sellevnkqw dqhfrsmkqq yeqkitelrq kladlqkqvt dleaereqkq
      361 rdfdrkllla kskiemeetd keqltaeake lrqkvkylqd qlspltrqre yqekeiqrln
      421 kaleealsiq tppsspptaf gspegagall rkqelvtqne llkqqvkife edfqrersdr
      481 ermneekeel kkqveklqaq vtlsnaqlka fkdeekarea lrqqkrkaka sgeryhveph
      541 pehlcgaypy ayppmpamvp hhgfedwsqi ryppppmame hppplpnsrl fhlpeytwrl
      601 pcggvrnpnq ssqvmdppta rptepespkn dregpq
//
LOCUS       XP_011541419             966 aa            linear   PRI 20-MAR-2023
DEFINITION  A disintegrin and metalloproteinase with thrombospondin motifs 6
            isoform X3 [Homo sapiens].
ACCESSION   XP_011541419
VERSION     XP_011541419.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011543117.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..966
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..966
                     /product="A disintegrin and metalloproteinase with
                     thrombospondin motifs 6 isoform X3"
                     /calculated_mol_wt=107385
     Region          <4..40
                     /region_name="Pep_M12B_propep"
                     /note="Reprolysin family propeptide; pfam01562"
                     /db_xref="CDD:426325"
     Region          99..314
                     /region_name="ZnMc_ADAMTS_like"
                     /note="Zinc-dependent metalloprotease, ADAMTS_like
                     subgroup. ADAMs (A Disintegrin And Metalloprotease) are
                     glycoproteins, which play roles in cell signaling, cell
                     fusion, and cell-cell interactions. This particular
                     subfamily represents domain architectures that...;
                     cd04273"
                     /db_xref="CDD:239801"
     Site            order(252..253,256,262)
                     /site_type="active"
                     /db_xref="CDD:239801"
     Region          329..397
                     /region_name="ADAM_CR_2"
                     /note="ADAM cysteine-rich domain; pfam17771"
                     /db_xref="CDD:436031"
     Region          410..462
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          467..565
                     /region_name="ADAM_CR_3"
                     /note="ADAM cysteine-rich domain; pfam19236"
                     /db_xref="CDD:437068"
     Region          568..678
                     /region_name="ADAM_spacer1"
                     /note="ADAM-TS Spacer 1; pfam05986"
                     /db_xref="CDD:428708"
     Region          693..748
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          752..808
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          812..866
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          871..920
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:408800"
     Region          932..964
                     /region_name="PLAC"
                     /note="PLAC (protease and lacunin) domain; pfam08686"
                     /db_xref="CDD:430154"
     CDS             1..966
                     /gene="ADAMTS6"
                     /gene_synonym="ADAM-TS 6; ADAM-TS6; ADAMTS-6"
                     /coded_by="XM_011543117.3:570..3470"
                     /db_xref="GeneID:11174"
                     /db_xref="HGNC:HGNC:222"
                     /db_xref="MIM:605008"
ORIGIN      
        1 mkthgviate deeyfieplk nttedskhfs yenghphviy kksalqqrhl ydhshcgvsd
       61 ftrsgkpwwl ndtstvsysl pinnthihhr qkrsvsierf vetlvvadkm mvgyhgrkdi
      121 ehyilsvmni vaklyrdssl gnvvniivar livltedqpn leinhhadks ldsfckwqks
      181 ilshqsdgnt ipengiahhd navlitrydi ctyknkpcgt lglasvagmc eperscsine
      241 diglgsafti aheighnfgm nhdgignscg tkgheaaklm aahitantnp fswsacsrdy
      301 itsfldsgrg tcldneppkr dflypavapg qvydadeqcr fqygatsrqc kygevcrelw
      361 clsksnrcvt nsipaaegtl cqtgniekgw cyqgdcvpfg twpqsidggw gpwslwgecs
      421 rtcgggvsss lrhcdspaps gggkyclger kryrscntdp cplgsrdfre kqcadfdnmp
      481 frgkyynwkp ytgggvkpca lnclaegynf yterapavid gtqcnadsld icingeckhv
      541 gcdnilgsda redrcrvcgg dgstcdaieg ffndslprgg ymevvqiprg svhievreva
      601 msknyialks egddyyinga wtidwprkfd vagtafhykr ptdepeslea lgptsenliv
      661 mvllqeqnlg irykfnvpit rtgsgdnevg ftwnhqpwse csatcaggvq rqevvckrld
      721 dnsivqnnyc dpdskppenq racntepcpp ewfigdwlec sktcdggmrt ravlcirkig
      781 pseeetldys gclthrpvek epcnnqscpp qwvaldwsec tpkcgpgfkh rivlckssdl
      841 sktfpaaqcp eeskppvrir cslgrcpppr wvtgdwgqcs aqcglgqqmr tvqclsytgq
      901 assdcletvr ppsmqqcesk cdstpisnte eckdvnkvay cplvlkfkfc srayfrqmcc
      961 ktcqgh
//
LOCUS       XP_011541906             416 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor 7 isoform X3 [Homo sapiens].
ACCESSION   XP_011541906
VERSION     XP_011541906.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011543604.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..416
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..416
                     /product="transcription factor 7 isoform X3"
                     /calculated_mol_wt=44912
     Region          20..212
                     /region_name="CTNNB1_binding"
                     /note="N-terminal CTNNB1 binding; pfam08347"
                     /db_xref="CDD:429937"
     Region          300..383
                     /region_name="HMG-box_TCF7-like"
                     /note="high mobility group (HMG)-box found in the
                     transcription factor 7 (TCF-7)-like family; cd21996"
                     /db_xref="CDD:438812"
     Site            order(301..308,311..312,315,325..328,331..332,335,350,354,
                     357,368..383)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438812"
     CDS             1..416
                     /gene="TCF7"
                     /gene_synonym="TCF-1"
                     /coded_by="XM_011543604.3:227..1477"
                     /db_xref="GeneID:6932"
                     /db_xref="HGNC:HGNC:11639"
                     /db_xref="MIM:189908"
ORIGIN      
        1 mpqldsgggg agggddlgap dellafqdeg eeqddksrds aagperdlae lksslvnese
       61 gaaggagipg vpgagagarg eaealgreha aqrlfpdklp epledglkap ectsgmyket
      121 vysafnllmh ypppsgagqh pqpqpplhka nqpphgvpql slyehfnsph ptpapadisq
      181 kqvhrplqtp dlsgfyslts gsmgqlphtv swpspplypl spscgyrqhf paptaapgap
      241 yprfthpslm lgsgvpghpa aiphpaivpp sgkqelqpfd rnlktqaesk aekeakkpti
      301 kkplnafmly mkemrakvia ectlkesaai nqilgrrwha lsreeqakyy elarkerqlh
      361 mqlypgwsar dnygkkkrrs rekhqesttd pgspkkcrar fglnqqtdwc gpcspa
//
LOCUS       XP_047273911             737 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 23 member 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047273911
VERSION     XP_047273911.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417955.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..737
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..737
                     /product="solute carrier family 23 member 1 isoform X1"
                     /calculated_mol_wt=80314
     Region          180..615
                     /region_name="Xan_ur_permease"
                     /note="Permease family; pfam00860"
                     /db_xref="CDD:395690"
     CDS             1..737
                     /gene="SLC23A1"
                     /gene_synonym="SLC23A2; SVCT1; YSPL3"
                     /coded_by="XM_047417955.1:672..2885"
                     /db_xref="GeneID:9963"
                     /db_xref="HGNC:HGNC:10974"
                     /db_xref="MIM:603790"
ORIGIN      
        1 mllwiwdrvl hlvlyaccvv wvelsvhgav saggrawspq hpgefweekl erkvlgscrg
       61 fklvqqlwkl gavakrerrg qadrgtvwtp aggrtqccgm kllpswravl plgpsgrawp
      121 waqrprrtaq tcapkmraqe dlegrtqhet trdpstplpt epkfdmlyki edvppwylci
      181 llgfqhyltc fsgtiavpfl laealcvghd qhmvsqligt iftcvgittl iqttvgirlp
      241 lfqasafafl vpakailale rwkcppeeei ygnwslplnt shiwhprire vglhvqgaim
      301 vssvvevvig llglpgalln yigpltvtpt vsliglsvfq aagdragshw gisacsilli
      361 ilfsqylrnl tfllpvyrwg kgltllriqi fkmfpimlai mtvwllcyvl tltdvlptdp
      421 kaygfqartd argdimaiap wiripypcqw glptvtaaav lgmfsatlag iiesigdyya
      481 carlagappp pvhainrgif tegicciiag llgtgngsts sspnigvlgi tkvgsrrvvq
      541 ygaaimlvlg tigkftalfa slpdpilggm fctlfgmita vglsnlqfvd mnssrnlfvl
      601 gfsmffgltl pnylesnpga intgilevdq ilivllttem fvggclafil dntvpgspee
      661 rgliqwkaga hansdmsssl ksydfpigmg ivkritflky ipicpvfkgf sssskdqiai
      721 pedtpentet asvctkv
//
LOCUS       XP_047273916             317 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124900189 [Homo sapiens].
ACCESSION   XP_047273916
VERSION     XP_047273916.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417960.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..317
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..317
                     /product="uncharacterized protein LOC124900189"
                     /calculated_mol_wt=34108
     CDS             1..317
                     /gene="LOC124900189"
                     /coded_by="XM_047417960.1:611..1564"
                     /db_xref="GeneID:124900189"
ORIGIN      
        1 mwkmgysgwi lrrekqhqfy vrdagtsqrs lvfltlgwpe rglwgpcpga egalsragqv
       61 vrapgpgcle rddwawplgt csdktprspl lspcrsspgn mgsssfclca pdsgtlerrn
      121 ttpqappasp avlrpqgkpp lqaggrgwpg lppaephlre swggpprlrp csrllhtkpc
      181 esvrescgkt rhgigvtsvp rhevesitlc elntgqarce sepgtwpdeg cvqlshprhv
      241 stakpslsqq llcnvespva prmagggglg telgrhprpl flpvpslpse dqmrvsrken
      301 marpsssaqa glertpv
//
LOCUS       XP_047276449             639 aa            linear   PRI 20-MAR-2023
DEFINITION  gamma-secretase-activating protein isoform X7 [Homo sapiens].
ACCESSION   XP_047276449
VERSION     XP_047276449.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420493.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..639
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..639
                     /product="gamma-secretase-activating protein isoform X7"
                     /calculated_mol_wt=73221
     Region          <1..282
                     /region_name="GSAP"
                     /note="gamma-secretase-activating protein and similar
                     proteins; cd23105"
                     /db_xref="CDD:438516"
     Region          427..534
                     /region_name="GSAP-16"
                     /note="gamma-Secretase-activating protein C-term;
                     pfam14959"
                     /db_xref="CDD:434348"
     CDS             1..639
                     /gene="GSAP"
                     /gene_synonym="PION"
                     /coded_by="XM_047420493.1:592..2511"
                     /db_xref="GeneID:54103"
                     /db_xref="HGNC:HGNC:28042"
                     /db_xref="MIM:613552"
ORIGIN      
        1 mseqrlyyid lkksrsilkc iqfyadesyn lmfevpldis lsnsgfklvn fgcdyhqyrd
       61 kfskhltlcv ftnhtgslcv cyspkcaswg qitysvfyih kghsktftts lenvgshmtk
      121 gitflnldyy vavylpghff hllnvqhpdl ichnlfltgn nemidmlphc plqslsgslv
      181 ldccsgklyr allsqssllq llqntcldce kmaalhcaly cgqgaqflea qiiqwisenv
      241 sachsfdliq efiiassyws vysetsnmdk llphssvltw nteipgitlv tedialplmk
      301 vlsfkgywek lnsnleyvky akphfhynns vvrrewhnli seektgkrrs aayvrnildn
      361 avkvisnlea rnlgprltpl lqeedshqrl lmglmvselk dhflrhlqgv ekkkieqmvl
      421 dyisklldli chivetnwrk hnlhswvlhf nsrgsaaefa vfhimtrile atnslflplp
      481 pgfhtlhtil gvqclplhnl lhcidsgvll ltetavirlm kdldntekne klkfsiivrl
      541 ppligqkicr lwdhpmssni isrnhvtrll qnykkqprns minkssfsve flplnyfiei
      601 ltdiessnqa lypfeghdnv daefveeaal khtamllgl
//
LOCUS       XP_011542731             349 aa            linear   PRI 20-MAR-2023
DEFINITION  early growth response protein 3 isoform X2 [Homo sapiens].
ACCESSION   XP_011542731
VERSION     XP_011542731.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544429.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_011542731.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..349
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..349
                     /product="early growth response protein 3 isoform X2"
                     /calculated_mol_wt=38347
     Region          49..135
                     /region_name="DUF3446"
                     /note="Domain of unknown function (DUF3446); pfam11928"
                     /db_xref="CDD:432196"
     Region          231..>295
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          239..261
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(246,248,250,252..253,256..257,260,274,276,280..281,
                     284..285,288,302,304,306,308..309,312..313,316)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          265..>338
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          269..289
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          297..317
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..349
                     /gene="EGR3"
                     /gene_synonym="EGR-3; PILOT"
                     /coded_by="XM_011544429.3:93..1142"
                     /db_xref="GeneID:1960"
                     /db_xref="HGNC:HGNC:3240"
                     /db_xref="MIM:602419"
ORIGIN      
        1 mepcaawspr ggrenvmdig ltnekpnpel sysgsfqpap gnktvtylgk fafdspsnwc
       61 qdniislmsa gilgvppasg alstqtstas mvqppqgdve amypalppys ncgdlysepv
      121 sfhdpqgnpg layspqdyqs akpaldsnlf pmipdynlyh hpndmgsipe hkpfqgmdpi
      181 rvnpppitpl etikafkdkq ihpgfgslpq ppltlkpirp rkypnrpskt plherphacp
      241 aegcdrrfsr sdeltrhlri htghkpfqcr icmrsfsrsd hltthirtht gekpfacefc
      301 grkfarsder krhakihlkq kekkaekgga psassappvs lapvvttca
//
LOCUS       XP_047277853             472 aa            linear   PRI 20-MAR-2023
DEFINITION  gamma-1-syntrophin isoform X2 [Homo sapiens].
ACCESSION   XP_047277853
VERSION     XP_047277853.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421897.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..472
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..472
                     /product="gamma-1-syntrophin isoform X2"
                     /calculated_mol_wt=52821
     Region          10..91
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(22..25,27,76..77,80..81)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          146..214
                     /region_name="PH"
                     /note="Pleckstrin homology (PH) domain; cd00821"
                     /db_xref="CDD:275388"
     Region          239..344
                     /region_name="PH"
                     /note="Pleckstrin homology domain; smart00233"
                     /db_xref="CDD:214574"
     CDS             1..472
                     /gene="SNTG1"
                     /gene_synonym="G1SYN; SYN4"
                     /coded_by="XM_047421897.1:1023..2441"
                     /db_xref="GeneID:54212"
                     /db_xref="HGNC:HGNC:13740"
                     /db_xref="MIM:608714"
ORIGIN      
        1 mdfrtaceee rtvtirrqtv ggfglsikgg aehnipvvvs kiskeqrael sgllfigdai
       61 lqinginvrk crheevvqvl rnageevtlt vsflkrapaf lklplnedca capsdqssgt
      121 ssplcdsglh lnyhpnntdt lscsswptsp glrwekrwcd lrlipllhsr fsqyvpgtdl
      181 srqnafqvia vdgvctgiiq clsaedcvdw lqaiatnisn ltkhnikkin rnfpvnqqiv
      241 ymgwceareq dplqdrvysp tflalrgscl ykflappvtt wdwtraektf svyeimckil
      301 kdsdlldrrk qcftvqsesg edlyfsvele sdlaqweraf qtatflever iqcktyacvl
      361 eshlmgltid fstgficfda atkavlwryk fsqlkgssdd gkskikflfq npdtkqieak
      421 elefsnlfav lhcihsffaa kvacldplfl gnqatastaa ssattskaky tt
//
LOCUS       XP_047279608            1903 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase delta isoform X32 [Homo
            sapiens].
ACCESSION   XP_047279608
VERSION     XP_047279608.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423652.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1903
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1903
                     /product="receptor-type tyrosine-protein phosphatase delta
                     isoform X32"
                     /calculated_mol_wt=213412
     Region          24..115
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          41..45
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          54..58
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          77..84
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          95..100
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          108..111
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          127..226
                     /region_name="IgI_2_RPTP_IIa_LAR_like"
                     /note="Second immunoglobulin (Ig)-like domain of the
                     receptor protein tyrosine phosphatase (RPTP)-F; member of
                     the I-set of IgSF domains; cd05738"
                     /db_xref="CDD:409400"
     Region          127..129
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409400"
     Region          134..138
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409400"
     Region          141..150
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409400"
     Region          155..161
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409400"
     Region          163..165
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409400"
     Region          174..178
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409400"
     Region          190..195
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409400"
     Region          204..211
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409400"
     Region          214..225
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409400"
     Region          239..320
                     /region_name="IgI_3_RPTP_IIa_LAR_like"
                     /note="Third immunoglobulin (Ig)-like domain of the
                     receptor protein tyrosine phosphatase (RPTP)-F (also known
                     as LAR), type IIa; member of the I-set of IgSF domains;
                     cd05739"
                     /db_xref="CDD:409401"
     Region          239..241
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409401"
     Region          245..249
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409401"
     Region          252..260
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409401"
     Region          265..271
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409401"
     Region          273..275
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409401"
     Region          278..282
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409401"
     Region          287..292
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409401"
     Region          299..306
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409401"
     Region          310..319
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409401"
     Region          323..412
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(323,385,400)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(401..402,404..405)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          419..511
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(500..501,503..504)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          516..604
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(516,577,592)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(593..594,596..597)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          612..706
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(695..696,698..699)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          713..810
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(799..800,802..803)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          815..910
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(815,878,893)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(894..895,897,903)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          913..1004
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(993..994,996..997)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1014..>1075
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Region          1325..1608
                     /region_name="R-PTPc-D-1"
                     /note="catalytic domain of receptor-type tyrosine-protein
                     phosphatase D, repeat 1; cd14624"
                     /db_xref="CDD:350472"
     Region          1609..1900
                     /region_name="R-PTP-D-2"
                     /note="PTP-like domain of receptor-type tyrosine-protein
                     phosphatase D, repeat 2; cd14628"
                     /db_xref="CDD:350476"
     CDS             1..1903
                     /gene="PTPRD"
                     /gene_synonym="HPTP; HPTPD; HPTPDELTA; PTPD; R-PTP-delta;
                     RPTPDELTA"
                     /coded_by="XM_047423652.1:708..6419"
                     /db_xref="GeneID:5789"
                     /db_xref="HGNC:HGNC:9668"
                     /db_xref="MIM:601598"
ORIGIN      
        1 mvhvarllll lltfflrtda etpprftrtp vdqtgvsggv asficqatgd prpkivwnkk
       61 gkkvsnqrfe viefddgsgs vlriqplrtp rdeaiyecva snnvgeisvs trltvlredq
      121 iprgfptidm gpqlkvvert rtatmlcaas gnpdpeitwf kdflpvdtsn nngrikqlrs
      181 esiggtpirg alqieqsees dqgkyecvat nsagtrysap anlyvrelre vrrvpprfsi
      241 pptnheimpg gsvnitcvav gspmpyvkwm lgaedltped dmpigrnvle lndvrqsany
      301 tcvamstlgv ieaiaqitvk alpkppgtpv vtestatsit ltwdsgnpep vsyyiiqhkp
      361 knseelykei dgvattrysv aglspysdye frvvavnnig rgppsepvlt qtseqapssa
      421 prdvqarmls sttilvqwke peepngqiqg yrvyytmdpt qhvnnwmkhn vadsqittig
      481 nlvpqktysv kvlaftsigd gplssdiqvi tqtgvpgqpl nfkaepeset sillswtppr
      541 sdtianyelv ykdgehgeeq ritiepgtsy rlqglkpnsl yyfrlaarsp qglgastaei
      601 sartmqskps appqdiscts psstsilvsw qpppvekqng iiteysikyt avdgeddkph
      661 eilgipsdtt kylleqlekw teyritvtah tdvgpgpesl svlirtnedv psgpprkvev
      721 eavnstsvkv swrspvpnkq hgqirgyqvh yvrmengepk gqpmlkdvml adaqdmiisg
      781 lqpetsyslt vtayttkgdg arskpklvst tgavpgkprl vinhtqmnta liqwhppvdt
      841 fgplqgyrlk fgrkdmeplt tlefsekedh ftatdihkga syvfrlsarn kvgfgeemvk
      901 eisipeevpt gfpqnlhseg ttstsvqlsw qppvlaerng iitkytllyr dinipllpme
      961 qlivpadttm tltglkpdtt ydvkvrahts kgpgpyspsv qfrtlpvdqa vfaknfhvka
     1021 vmktsvllsw eipenynsam pfkilyddgk mveevdgrat qklivnlkpe ksysfvltnr
     1081 gnsagglqhr vtaktapdvl rtkpafigkt nldgmitvql pevpanenik gyyiiivplk
     1141 ksrgkfikpw espdemelde llkeisrkrr sirygrevel kpyiaahfdv lpteftlgdd
     1201 khyggftnkq lqsgqeyvff vlavmehaes myatspysdp vvsmdldpqp itdeeegliw
     1261 vvgpvlavvf iiciviaill ykrkraesds rkssipnnke ipshhptdpv elrrlnfqtp
     1321 gmashppipi leladhierl kandnlkfsq eyesidpgqq ftwehsnlev nkpknryanv
     1381 iaydhsrvll saiegipgsd yvnanyidgy rkqnayiatq gslpetfgdf wrmiweqrsa
     1441 tvvmmtklee rsrvkcdqyw psrgtethgl vqvtlldtve latycvrtfa lykngssekr
     1501 evrqfqftaw pdhgvpehpt pflaflrrvk tcnppdagpm vvhcsagvgr tgcfividam
     1561 lerikhektv diyghvtlmr aqrnymvqte dqyifihdal leavtcgnte vparnlyayi
     1621 qkltqietge nvtgmelefk rlasskahts rfisanlpcn kfknrlvnim pyestrvclq
     1681 pirgvegsdy inasfidgyr qqkayiatqg plaettedfw rmlwehnsti vvmltklrem
     1741 grekchqywp aersaryqyf vvdpmaeynm pqyilrefkv tdardgqsrt vrqfqftdwp
     1801 eqgvpksgeg fidfigqvhk tkeqfgqdgp isvhcsagvg rtgvfitlsi vlermryegv
     1861 vdifqtvkml rtqrpamvqt edqyqfsyra aleylgsfdh yat
//
LOCUS       XP_011517414             305 aa            linear   PRI 20-MAR-2023
DEFINITION  netrin-G2 isoform X8 [Homo sapiens].
ACCESSION   XP_011517414
VERSION     XP_011517414.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011519112.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..305
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..305
                     /product="netrin-G2 isoform X8"
                     /calculated_mol_wt=33022
     CDS             1..305
                     /gene="NTNG2"
                     /gene_synonym="bA479K20.1; LHLL9381; Lmnt2; NEDBASH;
                     NTNG1"
                     /coded_by="XM_011519112.3:759..1676"
                     /db_xref="GeneID:84628"
                     /db_xref="HGNC:HGNC:14288"
                     /db_xref="MIM:618689"
ORIGIN      
        1 msksqpgadp ksqrcfwgap spstralwgp tshpscpsrt qgapgwease prgrqkeagp
       61 crdaglhsrq wtrpstaapl ssrwsqvasr aeavgtpaaa papakgyklf qlkpkspqvm
      121 pieefqdcec yghsnrcsyi dflnvvtcvs ckhntrgqhc qhcrlgyyrn gsaelddenv
      181 ciecncnqig svhdrcnetg fcecregaag pkcddclpth ywrqgcypnv cdddqllcqn
      241 ggtclqnqrc acprgytgvr ceqprcdpad ddggldcdra pgaaprpatl lgcllllgla
      301 arlgr
//
LOCUS       XP_011529613             476 aa            linear   PRI 20-MAR-2023
DEFINITION  integrator complex subunit 6-like isoform X13 [Homo sapiens].
ACCESSION   XP_011529613
VERSION     XP_011529613.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011531311.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..476
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..476
                     /product="integrator complex subunit 6-like isoform X13"
                     /calculated_mol_wt=53912
     Region          4..103
                     /region_name="VWA_2"
                     /note="von Willebrand factor type A domain; pfam13519"
                     /db_xref="CDD:433277"
     Site            order(9,86,130)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238119"
     CDS             1..476
                     /gene="INTS6L"
                     /gene_synonym="DDX26B"
                     /coded_by="XM_011531311.3:334..1764"
                     /db_xref="GeneID:203522"
                     /db_xref="HGNC:HGNC:27334"
ORIGIN      
        1 mpillflidt sasmnqrtdl gtsyldiakg avelflklra rdpasrgdry mlvtydeppy
       61 cikagwkenh atfmselknl qasglttlgq alrssfdlln lnrlisgidn ygqgrnpffl
      121 epsilititd gnkltstagv qeelhlplns plpgseltke pfrwdqrlfa lvlrlpgvas
      181 tepeqlgsvp tdesaitqmc evtggrsycv rtqrmlnqcl eslvqkvqsg vvinfektgp
      241 dplpigedgl mdssrpsnsf aaqpwhschk liyvrpnskt gvpvghwpip esfwpdqnlp
      301 slpprtshpv vrfscvdcep mvidklpfdk yelepspltq yilerkspht cwqvfvtssg
      361 kynelgypfg ylkasttltc vnlfvmpyny pvllpllddl fkvhklkpnl kwrqafdsyl
      421 ktlppyylli fvsslssqim ckslemswrh krelfslfys fnchgyfykt hlcfsy
//
LOCUS       XP_054186228             316 aa            linear   PRI 20-MAR-2023
DEFINITION  olfactory receptor 2H1 isoform X1 [Homo sapiens].
ACCESSION   XP_054186228
VERSION     XP_054186228.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330253.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167245.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..316
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..316
                     /product="olfactory receptor 2H1 isoform X1"
                     /calculated_mol_wt=35208
     CDS             1..316
                     /gene="OR2H1"
                     /gene_synonym="6M1-16; dJ994E9.4; HS6M1-16;
                     OLFR42A-9004-14; OLFR42A-9004.14/9026.2; OR2H6; OR2H8;
                     OR6-2"
                     /coded_by="XM_054330253.1:1974..2924"
                     /db_xref="GeneID:26716"
                     /db_xref="HGNC:HGNC:8252"
ORIGIN      
        1 mvnqsspmgf lllgfsehpa lertlfvvvf tsylltlvgn tliillsvly prlhspmyff
       61 lsdlsfldlc fttscvpqml vnlwgpkkti sflgcsvqlf iflslgttec illtvmafdr
      121 yvavcqplhy atiihprlcw qlasvawvms lvqsivqtps tlhlpfcphq qiddflcevp
      181 slirlscgdt syneiqlavs svifvvvpls lilasygata qavlrinsat awrkafgtcs
      241 shltvvtlfy ssviavylqp knpyaqgrgk ffglfyavgt pslnplvytl rnkeikralr
      301 rllgkerdsr eswraa
//
LOCUS       XP_054187112             931 aa            linear   PRI 20-MAR-2023
DEFINITION  epithelial discoidin domain-containing receptor 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054187112
VERSION     XP_054187112.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331137.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..931
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..931
                     /product="epithelial discoidin domain-containing receptor
                     1 isoform X2"
                     /calculated_mol_wt=102887
     CDS             1..931
                     /gene="DDR1"
                     /gene_synonym="CAK; CD167; DDR; EDDR1; HGK2; MCK10; NEP;
                     NTRK4; PTK3; PTK3A; RTK6; TRKE"
                     /coded_by="XM_054331137.1:376..3171"
                     /db_xref="GeneID:780"
                     /db_xref="HGNC:HGNC:2730"
                     /db_xref="MIM:600408"
ORIGIN      
        1 mslprccphp lrpegsgamg pealssllll llvasgdadm kghfdpakcr yalgmqdrti
       61 pdsdisasss wsdstaarhs rlessdgdga wcpagsvfpk eeeylqvdlq rlhlvalvgt
      121 qgrhagglgk efsrsyrlry srdgrrwmgw kdrwgqevis gnedpegvvl kdlgppmvar
      181 lvrfypradr vmsvclrvel ygclwrdgll sytapvgqtm ylseavylnd stydghtvgg
      241 lqygglgqla dgvvglddfr ksqelrvwpg ydyvgwsnhs fssgyvemef efdrlrafqa
      301 mqvhcnnmht lgarlpggve crfrrgpama wegepmrhnl ggnlgdprar avsvplggrv
      361 arflqcrflf agpwllfsei sfisdvvnns spalggtfpp apwwppgppp tnfsslelep
      421 rgqqpvakae gsptailigc lvaiilllll iialmlwrlh wrrllskaer rvleeeltvh
      481 lsvpgdtili nnrpgprepp pyqeprprgn pphsapcvpn gsalllsnpa yrlllatyar
      541 pprgpgpptp awakptntqa ysgdymepek pgapllpppp qnsvphyaea divtlqgvtg
      601 gntyavpalp pgavgdgppr vdfprsrlrf keklgegqfg evhlcevdsp qdlvsldfpl
      661 nvrkghpllv avkilrpdat knarndflke vkimsrlkdp niirllgvcv qddplcmitd
      721 ymengdlnqf lsahqledka aegapgdgqa aqgptisypm llhvaaqias gmrylatlnf
      781 vhrdlatrnc lvgenftiki adfgmsrnly agdyyrvqgr avlpirwmaw ecilmgkftt
      841 asdvwafgvt lwevlmlcra qpfgqltdeq vienageffr dqgrqvylsr ppacpqglye
      901 lmlrcwsres eqrppfsqlh rflaedalnt v
//
LOCUS       XP_054188882             314 aa            linear   PRI 20-MAR-2023
DEFINITION  fumarylacetoacetate hydrolase domain-containing protein 2B isoform
            X4 [Homo sapiens].
ACCESSION   XP_054188882
VERSION     XP_054188882.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332907.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791765) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..314
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     Protein         1..314
                     /product="fumarylacetoacetate hydrolase domain-containing
                     protein 2B isoform X4"
                     /calculated_mol_wt=34482
     CDS             1..314
                     /gene="FAHD2B"
                     /coded_by="XM_054332907.1:426..1370"
                     /db_xref="GeneID:151313"
                     /db_xref="HGNC:HGNC:25318"
ORIGIN      
        1 mlvsgrrrll tallqaqkwp fqpsrdmrlv qfraphlvgp hlgletgngg gvinlnafdp
       61 tlpktmtqfl eqgeatlsva rralaaqlpv lpwsevtfla pvtwpdkvvc vgmnyvdhck
      121 eqnvpvpkep iifskfassi vgpydevvlp pqsqevdwev elavvigkkg khikatdama
      181 hvagftvahd vsardwltrr ngkqwllgkt fdtfcplgpa lvtkdsvadp hnlkiccrvn
      241 gevvqssntn qmvfktedli awvsqfvtfy pgdviltgtp pgvgvfrkpp vflkkgdevq
      301 ceieelgvii nkvv
//
LOCUS       XP_054189463             403 aa            linear   PRI 20-MAR-2023
DEFINITION  killer cell immunoglobulin-like receptor 3DL2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054189463
VERSION     XP_054189463.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333488.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187677.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..403
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..403
                     /product="killer cell immunoglobulin-like receptor 3DL2
                     isoform X1"
                     /calculated_mol_wt=44240
     CDS             1..403
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /coded_by="XM_054333488.1:34..1245"
                     /db_xref="GeneID:3812"
                     /db_xref="HGNC:HGNC:6339"
                     /db_xref="MIM:604947"
ORIGIN      
        1 msltvvsmac vgffllqgaw plmggqdkpf lsarpstvvp rgghvalqch yrrgfnnfml
       61 ykedrshvpi fhgrifqesf imgpvtpaha gtyrcrgsrp hsltgwsaps nplvimvtgn
      121 hrkpsllahp gpllksgetv ilqcwsdvmf ehfflhregi sedpsrlvgq ihdgvskanf
      181 sigplmpvla gtyrcygsvp hspyqlsaps dpldivitgl yekpslsaqp gptvqagenv
      241 tlscsswssy diyhlsrege aherrlravp kvnrtfqadf plgpathggt yrcfgsfral
      301 pcvwsnssdp llvsvtdaav mdqepagdrt vnrqdsdeqd pqevtyaqld hcvfiqrkis
      361 rpsqrpktpl tdtsvytelp naeprskvvs cprapqsgle gvf
//
LOCUS       XP_054190478             264 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase Nek7 isoform X4 [Homo sapiens].
ACCESSION   XP_054190478
VERSION     XP_054190478.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334503.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..264
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..264
                     /product="serine/threonine-protein kinase Nek7 isoform X4"
                     /calculated_mol_wt=30025
     CDS             1..264
                     /gene="NEK7"
                     /coded_by="XM_054334503.1:420..1214"
                     /db_xref="GeneID:140609"
                     /db_xref="HGNC:HGNC:13386"
                     /db_xref="MIM:606848"
ORIGIN      
        1 mdeqsqgmqg ppvpqfqpqk alrpdmgynt lanfriekki grgqfsevyr aaclldgvpv
       61 alkkvqifdl mdakaradci keidllkqln hpnvikyyas fiednelniv leladagdls
      121 rmikhfkkqk rlipertvwk yfvqlcsale hmhsrrvmhr dikpanvfit atgvvklgdl
      181 glgrffsskt taahslvgtp yymsperihe ngynfksdiw slgcllyelr qlvnmcinpd
      241 pekrpdvtyv ydvakrmhac tass
//
LOCUS       XP_054190942            1152 aa            linear   PRI 20-MAR-2023
DEFINITION  sperm-associated antigen 17 isoform X9 [Homo sapiens].
ACCESSION   XP_054190942
VERSION     XP_054190942.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334967.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1152
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1152
                     /product="sperm-associated antigen 17 isoform X9"
                     /calculated_mol_wt=128746
     CDS             1..1152
                     /gene="SPAG17"
                     /gene_synonym="CT143; PF6; SPGF55"
                     /coded_by="XM_054334967.1:136..3594"
                     /db_xref="GeneID:200162"
                     /db_xref="HGNC:HGNC:26620"
                     /db_xref="MIM:616554"
ORIGIN      
        1 mihlndpkei vkkeekgdyy leeeeegdee qsletevsda knkafskfgs fsatlengic
       61 lsisyygsng mapedkdpdl etilnipsal tptvvpvivt vpqskakgki kgkekpkesl
      121 keeehpkeee kkeeevepep vlqetldvpt fqslnvscps gllltfigqe stgqyvidee
      181 ptwdimvrqs ypqrvkhyef yktvmppaeq easrvitsqg tvvkymldgs tqilfadgav
      241 srspnsglic ppsempatph sgdlmdsisq qksetilsei tntkkgkshk sqssmahkge
      301 ihdpppeavq tvtpvevhig twftttpegn rigtkgleri adltpllsfq atdpvngtvm
      361 ttredkvviv erkdgtrivd hadgtrittf yqvyedqiil pddqettegp rtvtrqvkcm
      421 rvessryatv iancedsscc atfgdgttii akpqgtyqvl ppntgslyid kdcsavyche
      481 sssniyypfq kreqlragry imrhtsevic evldpegntf qvmadgsist ilpekkledd
      541 lnektegyds lssmhleknh qqiygehvpr ffvmyadgsg mellrdsdie eylslaykes
      601 ntvvlqepvq eqpgtltitv lrpfheaspw qvkkedtivp pnlrsrswet fpsvekktpg
      661 ppfgtqiwkg lcieskqlvs apgailksps vlqmrqfiqh eviknevklr lqvslkdyin
      721 yilkkedelq emmvkdsrte eergnaadll klvmsfpkme ettkshvtev aahltdlfkq
      781 slatppkcpp dtfgkdffek twrhtasskr wkekidktrk eiettqnylm diknriippf
      841 fkselnqlyq sqynhldsls kklpsftkkn edanetavqd tsdlnldfkp hkvseqksss
      901 vpslpkpeis adkkdftaqn qtenltkspe eaesyepvki ptqsllqdva gqtrkekvkl
      961 phyllsskpk sqplakvqds vggkvntssv asaainnaks slfgfhllps svkfgvlkeg
     1021 htyatvvklk nvgvdfcrfk vkqpppstgl kvtykpgpva agmqtelnie lfatavgedg
     1081 akgsahishn ieimtehevl flpveatvlt ssnydkrpkd fpqgkenpmv qrtstiysst
     1141 lgvfmsrkvs ph
//
LOCUS       XP_054191977             427 aa            linear   PRI 20-MAR-2023
DEFINITION  gap junction alpha-8 protein isoform X1 [Homo sapiens].
ACCESSION   XP_054191977
VERSION     XP_054191977.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336002.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..427
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..427
                     /product="gap junction alpha-8 protein isoform X1"
                     /calculated_mol_wt=47467
     CDS             1..427
                     /gene="GJA8"
                     /gene_synonym="CAE; CAE1; CTRCT1; CX50; CZP1; MP70"
                     /coded_by="XM_054336002.1:801..2084"
                     /db_xref="GeneID:2703"
                     /db_xref="HGNC:HGNC:4281"
                     /db_xref="MIM:600897"
ORIGIN      
        1 mgdwsflgni leevnehstv igrvwltvlf ifrililgta aefvwgdeqs dfvcntqqpg
       61 cenvcydeaf pishirlwvl qiifvstpsl myvghavhyv rmeekrksre aeelgqqagt
      121 nggpdqgsvk kssgskgtkk frlegtllrt yichiifktl fevgfivghy flygfrilpl
      181 yrcsrwpcpn vvdcfvsrpt ektifilfml svasvslfln vmelghlglk girsalkrpv
      241 eqplgeipek slhsiavssi qkakgyqlle eekivshyfp ltevgmvets plpakpfnqf
      301 eekistgplg dlsrgyqetl psyaqvgaqe vegegppaee gaepevgekk eeaerlttee
      361 qekvavpege kvetpgvdke gekeepqsek vskqglpaek tpslcpeltt ddarplsrls
      421 kassrar
//
LOCUS       XP_054193005             263 aa            linear   PRI 20-MAR-2023
DEFINITION  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X4
            [Homo sapiens].
ACCESSION   XP_054193005
VERSION     XP_054193005.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337030.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..263
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..263
                     /product="6-phosphofructo-2-kinase/fructose-2,
                     6-bisphosphatase 2 isoform X4"
                     /calculated_mol_wt=30192
     CDS             1..263
                     /gene="PFKFB2"
                     /gene_synonym="PFK-2/FBPase-2"
                     /coded_by="XM_054337030.1:213..1004"
                     /db_xref="GeneID:5208"
                     /db_xref="HGNC:HGNC:8873"
                     /db_xref="MIM:171835"
ORIGIN      
        1 mnihvqprti ylcrhgesef nllgkiggds glsvrgkqfa qalrkfleeq eitdlkvwts
       61 qlkrtiqtae slgvpyeqwk ilneidagvc eemtyaeiek rypeefalrd qekylyrypg
      121 gesyqdlvqr lepvimeler qgnvlvishq avmrcllayf ldkgadelpy lrcplhtifk
      181 ltpvaygckv etiklnveav nthrdkptnn fpknqtpvrm rrnsftplss sntirrprny
      241 svgsrplkpl splraqdmqe gad
//
LOCUS       XP_054194257             254 aa            linear   PRI 20-MAR-2023
DEFINITION  mitochondrial amidoxime-reducing component 1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054194257
VERSION     XP_054194257.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338282.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..254
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..254
                     /product="mitochondrial amidoxime-reducing component 1
                     isoform X3"
                     /calculated_mol_wt=28708
     CDS             1..254
                     /gene="MTARC1"
                     /gene_synonym="MARC1; MOSC1"
                     /coded_by="XM_054338282.1:864..1628"
                     /db_xref="GeneID:64757"
                     /db_xref="HGNC:HGNC:26189"
                     /db_xref="MIM:614126"
ORIGIN      
        1 mlehkifkrf wlvinqegnm vtarqeprlv lisltcdgdt ltlsaaytkd lllpiktptt
       61 navhkcrvhg leiegrdcge aaaqwitsfl ksqpyrlvhf ephmrprrph qiadlfrpkd
      121 qiaysdtspf lilseaslad lnsrlekkvk atnfrpnivi sgcdvyaeds wdelligdve
      181 lkrvmacsrc ilttvdpdtg vmsrkeplet lksyrqcdps erklygkspl fgqyfvlenp
      241 gtikvgdpvy llgq
//
LOCUS       XP_054223751            1365 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 7 isoform X1
            [Homo sapiens].
ACCESSION   XP_054223751
VERSION     XP_054223751.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367776.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1365
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1365
                     /product="pleckstrin homology domain-containing family A
                     member 7 isoform X1"
                     /calculated_mol_wt=155121
     CDS             1..1365
                     /gene="PLEKHA7"
                     /coded_by="XM_054367776.1:14..4111"
                     /db_xref="GeneID:144100"
                     /db_xref="HGNC:HGNC:27049"
                     /db_xref="MIM:612686"
ORIGIN      
        1 maaatvgrdt lpehwsygvc rdgrvffind qlrcttwlhp rtgepvnsgh mirsdlprgw
       61 eegfteegas yfidhnqqtt afrhpvtgqf spensefilq eepnphmskq drnqrpssmv
      121 setstagtas tleakpgpki ikssskvhsf gkrdqairrn pnvpvvvrgw lhkqdssgmr
      181 lwkrrwfvla dyclfyykds reeavlgsip lpsyvispva pedrisrkys fkavhtgmra
      241 liynsstags qaeqsgmrty yfsadtqedm nawvramnqa aqvlsrsslk rdmekverqa
      301 vpqanhtesc hecgrvgpgh trdcphrghd divnferqeq egeqyrsqrd plegkrdrsk
      361 arspyspaee dalfmdlptg prgqqaqpqr aekngmlpas ygpgeqngtg gyqrafpprt
      421 npekhsqrks nlaqvehwar aqkgdsrslp ldqtlprqgp gqslsfpeny qtlpkstrhp
      481 sggssppprn lpsdykyaqd rashlkmsse errahrdgtv wqlyewqqrq qfrhgsptap
      541 iclgspeftd qgrsrsmlev prsisvppsp sdipppgppr vfpprrphtp aervtvkppd
      601 qrrsvdislg dsprrargha vknsshvdrr smpsmgymth tvsapslhgk sleelslllt
      661 rlrrhqakla svrnfaisql lqhqltfptc qaddtylqlk kdleyldlki knneplinvl
      721 ykvlkksarg crprrsmtgr dllkdrslkp vkiaesdtdv klsifceqdr vlqdledkir
      781 alkenkdqle svlevlhrqm eqyrdqpqhl ekiayqqkll qedlvhirae lsrestemen
      841 awneylklen dveqlkqtlq eqhrrafffq eksqiqkdlw riedvtagls ankenfrilv
      901 esvknperkt vplfphppvp slstseskpp pqpspptspv rtplevrlfp qlqtyvpyrp
      961 hppqlrkvts plqsptkakp kvqedeappr pplpelyspe dqppavpplp reatiirhts
     1021 vrglkrqsde rkrdrelgqc vngdsrvelr syvsepelat lsgdmaqpsl glvgpesryq
     1081 tlpgrglsgs tsrlqqssti apyvtlrrgl naesskatfp rpksalerly sgdhqrgkms
     1141 aeeqlermkr hqkalvrerk rtlgqgertg lpssrylsrp lpgdlgswkr eqdfdlqlle
     1201 rvvqgekkdk eengwlkvqa mpvteldlep qdydldisre lskpekvsip eryveldpee
     1261 ppsleelqar yrkaekirni larssmcnlq ptsgqdqnsv adldlqlqeq eriinisyal
     1321 aseasqrskq vaaqqlallp pkgplssrtv ppyppftngl hytfv
//
LOCUS       XP_054224403             249 aa            linear   PRI 20-MAR-2023
DEFINITION  isobutyryl-CoA dehydrogenase, mitochondrial isoform X5 [Homo
            sapiens].
ACCESSION   XP_054224403
VERSION     XP_054224403.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368428.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..249
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..249
                     /product="isobutyryl-CoA dehydrogenase, mitochondrial
                     isoform X5"
                     /calculated_mol_wt=26693
     CDS             1..249
                     /gene="ACAD8"
                     /gene_synonym="ACAD-8; ARC42; IBDH"
                     /coded_by="XM_054368428.1:34..783"
                     /db_xref="GeneID:27034"
                     /db_xref="HGNC:HGNC:87"
                     /db_xref="MIM:604773"
ORIGIN      
        1 mlwsgcrrfg arlgclpggl rvlvqtghrs ltscidpsmg lneeqkefqk vafdfaarem
       61 apnmaewdqk elfpvdvmrk aaqlgfggvy iqtdvggsgl srldtsvife alatgctstt
      121 ayisihnmca wmidsfgnee qrhkfcpplc tmekfasycl tepgsgsdaa slltsakkqg
      181 dhyilngska fisgagesdi yvvmcrtggp gpkgiscivv ekgtpglsfg kkekklltlv
      241 hfvapgrda
//
LOCUS       XP_054226541             658 aa            linear   PRI 20-MAR-2023
DEFINITION  CD44 antigen isoform X8 [Homo sapiens].
ACCESSION   XP_054226541
VERSION     XP_054226541.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370566.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..658
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..658
                     /product="CD44 antigen isoform X8"
                     /calculated_mol_wt=71952
     CDS             1..658
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /coded_by="XM_054370566.1:134..2110"
                     /db_xref="GeneID:960"
                     /db_xref="HGNC:HGNC:1681"
                     /db_xref="MIM:107269"
ORIGIN      
        1 mdkfwwhaaw glclvplsla qidlnitcrf agvfhvekng rysisrteaa dlckafnstl
       61 ptmaqmekal sigfetcryg fieghvvipr ihpnsicaan ntgvyiltsn tsqydtycfn
      121 asappeedct svtdlpnafd gpititivnr dgtryvqkge yrtnpediyp snptdddvss
      181 gssserssts ggyifytfst vhpipdedsp witdstdrip atisttpraf dhtkqnqdwt
      241 qwnpshsnpe vllqtttrmt advdrngtta yegnwnpeah pplihhehhe eeetphstst
      301 iqatpsstte etatqkeqwf gnrwhegyrq tpredshstt gtaaasahts hpmqgrttps
      361 pedsswtdff npishpmgrg hqagrrmdmd sshsttlqpt anpntglved ldrtgplsmt
      421 tqqsnsqsfs tshegleedk dhpttstlts snrndvtggr rdpnhsegst tllegytshy
      481 phtkesrtfi pvtsaktgsf gvtavtvgds nsnvnrslsg dqdtfhpsgg shtthgsesd
      541 ghshgsqegg anttsgpirt pqipewliil asllalalil avciavnsrr rcgqkkklvi
      601 nsgngavedr kpsglngeas ksqemvhlvn kessetpdqf mtadetrnlq nvdmkigv
//
LOCUS       XP_054227652             322 aa            linear   PRI 20-MAR-2023
DEFINITION  T-complex protein 11-like protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054227652
VERSION     XP_054227652.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371677.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..322
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..322
                     /product="T-complex protein 11-like protein 2 isoform X3"
                     /calculated_mol_wt=36191
     CDS             1..322
                     /gene="TCP11L2"
                     /coded_by="XM_054371677.1:245..1213"
                     /db_xref="GeneID:255394"
                     /db_xref="HGNC:HGNC:28627"
                     /db_xref="MIM:619889"
ORIGIN      
        1 mpfngekqcv gedqpsdsds srfsesmasl sdyecsrqsf asdsssksss pastspprvv
       61 tfdevmatar nlsnltlahe iavnenfqlk qealpeksla grvkhivhqa fwdvldseln
      121 adppefehai klfeeireil lsfltpggnr lrnqicevld tdlirqqaeh savdiqglan
      181 yvistmgklc apvrdndire lkatgnivev lrqifhvldl mqmdmanfti mslrphlqrq
      241 lveyertkfq eileetpsal nqttewikes vneelfslse saltpgaent skpslsptlv
      301 lnnsylkllq wdyqkkelpe dl
//
LOCUS       XP_054228618             386 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-citrylglutamate synthase B isoform X1 [Homo sapiens].
ACCESSION   XP_054228618
VERSION     XP_054228618.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372643.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 18% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..386
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..386
                     /product="beta-citrylglutamate synthase B isoform X1"
                     /calculated_mol_wt=42333
     CDS             1..386
                     /gene="RIMKLB"
                     /gene_synonym="FAM80B; NAAGS; NAAGS-I"
                     /coded_by="XM_054372643.1:508..1668"
                     /db_xref="GeneID:57494"
                     /db_xref="HGNC:HGNC:29228"
                     /db_xref="MIM:614054"
ORIGIN      
        1 mcssvaaklw fltdrrired ypqkeilral kakcceeeld fravvmdevv ltieqgnlgl
       61 ringelitay pqvvvvrvpt pwvqsdsdit vlrhlekmgc rlmnrpqail ncvnkfwtfq
      121 elaghgvplp dtfsygghen fakmideaev lefpmvvknt rghrgkavfl ardkhhladl
      181 shlirheapy lfqkyvkesh grdvrvivvg grvvgtmlrc stdgrmqsnc slggvgmmcs
      241 lseqgkqlai qvsnilgmdv cgidllmkdd gsfcvceana nvgfiafdka cnldvagiia
      301 dyaasllpsg rltrrmslls vvstasetse pelgppasta vdnmsassss vdsdpester
      361 elltklpggl fnmnqllane ikllvd
//
LOCUS       XP_054231880             175 aa            linear   PRI 20-MAR-2023
DEFINITION  maleylacetoacetate isomerase isoform X1 [Homo sapiens].
ACCESSION   XP_054231880
VERSION     XP_054231880.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375905.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..175
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..175
                     /product="maleylacetoacetate isomerase isoform X1"
                     /calculated_mol_wt=19360
     CDS             1..175
                     /gene="GSTZ1"
                     /gene_synonym="GSTZ1-1; MAAI; MAAID; MAI"
                     /coded_by="XM_054375905.1:67..594"
                     /db_xref="GeneID:2954"
                     /db_xref="HGNC:HGNC:4643"
                     /db_xref="MIM:603758"
ORIGIN      
        1 mtesgkpily syfrsscswr vrialalkgi dyetvpinli kdggqqfskd fqalnpmkqv
       61 ptlkidgiti hqsnlsvlkq vgeemqltwa qnaitcgfna leqilqstag iycvgdevtm
      121 adlclvpqva naerfkvdlt pyptissink rllvleafqv shpcrqpdtp telra
//
LOCUS       XP_054232843             976 aa            linear   PRI 20-MAR-2023
DEFINITION  DDB1- and CUL4-associated factor 5 isoform X2 [Homo sapiens].
ACCESSION   XP_054232843
VERSION     XP_054232843.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376868.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..976
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..976
                     /product="DDB1- and CUL4-associated factor 5 isoform X2"
                     /calculated_mol_wt=107830
     CDS             1..976
                     /gene="DCAF5"
                     /gene_synonym="BCRG2; BCRP2; D14S1461E; WDR22"
                     /coded_by="XM_054376868.1:220..3150"
                     /db_xref="GeneID:8816"
                     /db_xref="HGNC:HGNC:20224"
                     /db_xref="MIM:603812"
ORIGIN      
        1 mkrraglggs mrsvvgflsq rglhgdpllt qdfqrrrlrg crnlykkdll ghfgcvnaie
       61 fsnnggqwlv sggddrrvll whmeqaihsr vkpiqlkgeh hsnifclafn sgntkvfsgg
      121 ndeqvilhdv esetldvfah edavyglsvs pvndnifass sddgrvliwd iresphgepf
      181 clanypsafh svmfnpvepr llatanskeg vglwdirkpq ssllryggnl slqsamsvrf
      241 nsngtqllal rrrlppvlyd ihsrlpvfqf dnqgyfnsct mksccfagdr dqkpeaegkv
      301 iffrlclatk pifmdlrrpr tktssqhyil sgsddfnlym wripadpeag gigrvvngaf
      361 mvlkghrsiv nqvrfnphty micssgveki ikiwspykqp gctgdldgri eddsrclyth
      421 eeyislvlns gsglshdyan qsvqedprmm affdslvrre iegwssdsds dlsestilql
      481 hagvsersgy tdsessaslp rsppptvdes adnafhlgpl rvtttntvas tpptptceda
      541 asrqqrlsal rryqdkrlla lsnesdseen vceveldtdl fprprspspe dessssssss
      601 ssedeeelne rrastwqrna mrrrqkttre dkpsapikpt ntyigednyd ypqikvddls
      661 ssptsspers tstleiqpsr asptsdiesv erkiykaykw lrysyisysn nkdgetslvt
      721 geadegragt shkdnpapss skeaclniam aqrnqdlppe gcskdtfkee tprtpsngpg
      781 hehsshawae vpegtsqdtg nsgsvehpfe tkklngkals sraeeppspp vpkasgstln
      841 sgsgncprtq sddseersle ticanhnngr lhprpphphn ngqnlgelev vaysspghsd
      901 tdrdnssltg tllhkdccgs emacetpnag tredptdtpa tdssravhgh sglkrqriel
      961 edtdsensss ekklkt
//
LOCUS       XP_054233250             343 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing protein 28 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054233250
VERSION     XP_054233250.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377275.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..343
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..343
                     /product="leucine-rich repeat-containing protein 28
                     isoform X2"
                     /calculated_mol_wt=39054
     CDS             1..343
                     /gene="LRRC28"
                     /coded_by="XM_054377275.1:297..1328"
                     /db_xref="GeneID:123355"
                     /db_xref="HGNC:HGNC:28355"
ORIGIN      
        1 maselcktis varlekhknl flnyrnlhhf plellkdegl qylerlymkr nsltslpenl
       61 aqklpnlvel ylhsnnivvv peaigslvkl qcldlsdnal eivcpeigrl ralrhlrlan
      121 nqlqflppev gdlkelqtld istnrlltlp erlhmclslq yltvdrnrlw yvprhlcqlp
      181 slnelsmagn rlaflpldlg rsrelqyvyv dnnihlkglp sylynkvigc sgcgapiqvs
      241 evkllsfssg qrtvflpaev kaigtehdhv lplqelamrg lyhtyhsllk dlnflspisl
      301 prsllellhc plghchrcse pmftivypkl fplretpmag lhq
//
LOCUS       XP_054233458             721 aa            linear   PRI 20-MAR-2023
DEFINITION  protein 4.2 isoform X1 [Homo sapiens].
ACCESSION   XP_054233458
VERSION     XP_054233458.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377483.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..721
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..721
                     /product="protein 4.2 isoform X1"
                     /calculated_mol_wt=79797
     CDS             1..721
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /coded_by="XM_054377483.1:910..3075"
                     /db_xref="GeneID:2038"
                     /db_xref="HGNC:HGNC:3381"
                     /db_xref="MIM:177070"
ORIGIN      
        1 mgqgepsqrs tglaglyaap aaspvfikgs gmdalgiksc dfqaarnnee hhtkalssrr
       61 lfvrrgqpft iilyfrapvr aflpalkkva ltaqtgeqps kinrtqatfp isslgdrkww
      121 savveerdaq swtisvttpa davighysll lqvsgrkqll lgqftllfnp wnredavflk
      181 neaqrmeyll nqngliylgt adciqaeswd fgqfegdvid lslrllskdk qvekwsqpvh
      241 varvlgallh flkeqrvlpt pqtqatqega llnkrrgsvp ilrqwltgrg rpvydgqawv
      301 laavactvlr clgiparvvt tfasaqgtgg rllideyyne eglqngegqr griwifqtst
      361 ecwmtrpalp qgydgwqilh psapngggvl gscdlvpvra vkegtlgltp avsdlfaain
      421 ascvvwkcce dgtleltdsn tkyvgnnist kgvgsdrced itqnykypeg slqekevler
      481 vekekmerek dngirppsle tasplylllk apsslplrgd aqisvtlvnh seqekavqla
      541 igvqavhyng vlaaklwrkk lhltlsanle kiitiglffs nfernppent flrltamath
      601 sesnlscfaq ediaicrphl aikmpekaeq yqpltasvsl qnsldapmed cvisilgrgl
      661 ihrersyrfr svwpentmca kfqftpthvg lqrltvevdc nmfqnltnyk svtvvapels
      721 a
//
LOCUS       XP_054171008             614 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 13B isoform X6 [Homo
            sapiens].
ACCESSION   XP_054171008
VERSION     XP_054171008.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315033.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 23% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..614
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..614
                     /product="ankyrin repeat domain-containing protein 13B
                     isoform X6"
                     /calculated_mol_wt=67422
     CDS             1..614
                     /gene="ANKRD13B"
                     /coded_by="XM_054315033.1:65..1909"
                     /db_xref="GeneID:124930"
                     /db_xref="HGNC:HGNC:26363"
                     /db_xref="MIM:615124"
ORIGIN      
        1 mqlwgpggcg raslrrrprg prpvrprarc grllpppsgv fvcggvgger esaqrrrvpa
       61 psqggwgplr aarrrrlart pvaraartap gappppaaar tcpsrspasr qrrppaprpr
      121 apapapsllp graprprhee ramipanasa rkgpegkypl hylvwhnrhr elekevragq
      181 vdieqldprg rtplhlattl ghlecarvll ahgadvgren rsgwtvlqea vstrdlelvq
      241 lvlryrdyqr vvkrlagipv lleklrkaqd fyvemkweft swvplvskic psdtykvwks
      301 gqnlrvdttl lgfdhmtwqr gnrsfvfrgq dtsavvmeid hdrrvvytet lalagqdrel
      361 llaaaqptee qvlsrltapv vttqldtkni sfernktgil gwrsektemv ngyeakvyga
      421 snvelitrtr tehlseqhkg kvkgcktplq sflgiaeqhg gpqngtlitq tlsqanptai
      481 taeeyfnpnf elgnrdmgrp melttktqkw ppsltswpsa mrflpssgts spcvcllasq
      541 lrlksrssts stpaspsgts taatnrchrc eaapaarrlp qaatppasaa paprppaaaa
      601 rspqrcsrpr aata
//
LOCUS       XP_054174734            1326 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 532 isoform X4 [Homo sapiens].
ACCESSION   XP_054174734
VERSION     XP_054174734.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318759.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1326
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1326
                     /product="zinc finger protein 532 isoform X4"
                     /calculated_mol_wt=144407
     CDS             1..1326
                     /gene="ZNF532"
                     /coded_by="XM_054318759.1:410..4390"
                     /db_xref="GeneID:55205"
                     /db_xref="HGNC:HGNC:30940"
                     /db_xref="MIM:619066"
ORIGIN      
        1 mhlsicssth psvhpptqls vyqehllklm tmgdmktpdf ddllaafdip dmvdpkaaie
       61 sghddheshm kqnahgedds hapsssdvgv svivknvrni dsseggekdg hnptgnglhn
      121 gfltasslds yskdgakslk gdvpasevtl kdstfsqfsp issaeefddd ekievddppd
      181 kedmrssfrs nvltgsapqq dydklkalgg enssktglst sgnveknkav kreteassin
      241 lsvyepfkvr kaedklkess dkvlenrvld gklssekndt slpsvapskt ksssklssci
      301 aaiaalsakk aasdsckepv ansressplp kevndspraa dkspesqnli dgtkkpslkq
      361 pdsprsisse nsskgspssp agstpaipkv riktiktssg eikrtvtrvl pevdldsgkk
      421 pseqtasvma svtsllsspa saavlssppr aplqsavvtn avspaeltpk qvtikpvata
      481 flpvsavkta gsqvinlkla nnttvkatvi saasvqsass aiikaanaiq qqtvvvpass
      541 lanaklvpkt vhlanlnllp qgaqatselr qvltkpqqqi kqaiinaaas qppkkvsrvq
      601 vvsslqssvv eafnkvlssv npvpvyipnl sppanagitl ptrgykclec gdsfaleksl
      661 tqhydrrsvr ievtcnhctk nlvfynkcsl lsharghkek gvvmqcshli lkpvpadqmi
      721 vspssntsts tstlqspvga gthtvtkiqs gitgtvisap sstpitpamp ldedpsklcr
      781 hslkclecne vfqdetslat hfqqaadtsg qktcticqml lpnqcsyash qrihqhkspy
      841 tcpecgaicr svhfqthvtk nclhytrrvg frcvhcnvvy sdvaalkshi qgshcevfyk
      901 cpicpmafks apsthshayt qhpgikigep kiiykcsmcd tvftlqtlly rhfdqhienq
      961 kvsvfkcpdc sllyaqkqlm mdhiksmhgt lksiegppnl ginlplsikp atqnsanqnk
     1021 edtksmngke klekkspspv kksmetkkva spgwtcwecd clfmqrdvyi shvrkehgkq
     1081 mkkhpcrqcd ksfssshslc rhnrikhkgi rkvhcpdsrr tftkrlmlek hvqlmhgikd
     1141 pdlkemtdat neeeteiked tkvpspkrkl eepvlefrpp rgaitqplkk lkinvfkvhk
     1201 cavcgftten llqfhehipq hksdgssyqc recglcytsh vslsrhlfiv hklkepqpvs
     1261 kqngagednq qenkpshede spdgavsdrk ckvcaktfet eaalnthmrt hgmafikskr
     1321 mssaek
//
LOCUS       XP_054175587             254 aa            linear   PRI 20-MAR-2023
DEFINITION  carcinoembryonic antigen-related cell adhesion molecule 4 isoform
            X8 [Homo sapiens].
ACCESSION   XP_054175587
VERSION     XP_054175587.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319612.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..254
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..254
                     /product="carcinoembryonic antigen-related cell adhesion
                     molecule 4 isoform X8"
                     /calculated_mol_wt=26433
     CDS             1..254
                     /gene="CEACAM4"
                     /gene_synonym="CGM7; CGM7_HUMAN; NCA"
                     /coded_by="XM_054319612.1:112..876"
                     /db_xref="GeneID:1089"
                     /db_xref="HGNC:HGNC:1816"
                     /db_xref="MIM:619159"
ORIGIN      
        1 mgppsaaprg ghrpwqglli taslltfwdp pttvqftiea lpssaaegkd vlllacnise
       61 tiqayywhkg ktaegsplia gyitdiqani pgaaysgret vypngsllfq nitledagsy
      121 tlrtinasyd sdqatgqlhv hqnnvpglpv gavagivtgv lvgvalvaal vcflllsrtg
      181 rasiqrdlre qpppastpgg aqallppccs llslspghgp shrstfsapl psprtatpiy
      241 egprpctapa wvpl
//
LOCUS       XP_054176551             223 aa            linear   PRI 20-MAR-2023
DEFINITION  trans-1,2-dihydrobenzene-1,2-diol dehydrogenase isoform X1 [Homo
            sapiens].
ACCESSION   XP_054176551
VERSION     XP_054176551.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320576.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..223
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..223
                     /product="trans-1,2-dihydrobenzene-1,2-diol dehydrogenase
                     isoform X1"
                     /calculated_mol_wt=23840
     CDS             1..223
                     /gene="DHDH"
                     /gene_synonym="2DD; HUM2DD"
                     /coded_by="XM_054320576.1:24..695"
                     /db_xref="GeneID:27294"
                     /db_xref="HGNC:HGNC:17887"
                     /db_xref="MIM:606377"
ORIGIN      
        1 malrwgivsv glissdftav lqtlprsehq vvavaardls rakefaqkhd ipkaygsyee
       61 lakdpsveva yigtqhpqhk aavmlclaag kavlcekptg vnaaevremv aearsralfl
      121 meaiwtrffp asealrsvla qgtlgdlrva raefgknlih vpravdraqa ggalldigiy
      181 cvqftsmvfg gqkpekisvv grrhetapqp llvpdragge gga
//
LOCUS       XP_054197361             157 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-36 beta isoform X1 [Homo sapiens].
ACCESSION   XP_054197361
VERSION     XP_054197361.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341386.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..157
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..157
                     /product="interleukin-36 beta isoform X1"
                     /calculated_mol_wt=17571
     CDS             1..157
                     /gene="IL36B"
                     /gene_synonym="FIL1; FIL1-(ETA); FIL1H; FILI-(ETA);
                     IL-1F8; IL-1H2; IL1-ETA; IL1F8; IL1H2"
                     /coded_by="XM_054341386.1:258..731"
                     /db_xref="GeneID:27177"
                     /db_xref="HGNC:HGNC:15564"
                     /db_xref="MIM:605508"
ORIGIN      
        1 mnpqreaapk syairdsrqm vwvlsgnsli aaplsrsikp vtlhliacrd tefsdkekgn
       61 mvylgikgkd lclfcaeiqg kptlqlkekn imdlyvekka qkpflffhnk egstsvfqsv
      121 sypgwfiats ttsgqpiflt kergitnntn fyldsve
//
LOCUS       XP_047302990             304 aa            linear   PRI 20-MAR-2023
DEFINITION  putative proline-rich protein 21 isoform X2 [Homo sapiens].
ACCESSION   XP_047302990
VERSION     XP_047302990.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047447034.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..304
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..304
                     /product="putative proline-rich protein 21 isoform X2"
                     /calculated_mol_wt=35024
     CDS             1..304
                     /gene="LOC107987292"
                     /coded_by="XM_047447034.1:7309..8223"
                     /db_xref="GeneID:107987292"
ORIGIN      
        1 msafsllisa fllpgawgvg rgaaaacvsa swsgsvlvga vpsapsalka aagsllrspp
       61 htcpqlihah ppapvpfpsv ssdvppapvp fpyisshqll fhphlfhlfh ltphhllfhs
      121 clfhltshql lfhsrlfhlm shqllfhpcl fhlishqllf hpclfhlfhl tshqlllhsr
      181 lfhlmshqll fhprlchlts hqllfhprlf hltshqllfh srlfhlmshq llfhprlfhl
      241 mshqllfhpr lfhlmshqll fhpqlfhlfh ltshqllfhp qlfhlfhlfh ltshqllfhs
      301 rlfi
//
LOCUS       XP_054181994             737 aa            linear   PRI 20-MAR-2023
DEFINITION  activating signal cointegrator 1 complex subunit 2 isoform X9 [Homo
            sapiens].
ACCESSION   XP_054181994
VERSION     XP_054181994.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326019.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..737
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..737
                     /product="activating signal cointegrator 1 complex subunit
                     2 isoform X9"
                     /calculated_mol_wt=83972
     CDS             1..737
                     /gene="ASCC2"
                     /gene_synonym="ASC1p100; p100"
                     /coded_by="XM_054326019.1:115..2328"
                     /db_xref="GeneID:84164"
                     /db_xref="HGNC:HGNC:24103"
                     /db_xref="MIM:614216"
ORIGIN      
        1 mpalpldqlq ithkdpktgk lrtspalhpe qkadryfvly kpppkdnipa lveeylerat
       61 fvandldwll alphdkfwcq vifdetlqkc ldsylryvpr kfdegvasap evvdmqkrlh
      121 rsvfltflrm sthkeskdhf ispsafgeil ynnflfdipk ildlcvlfgk gnspllqkmi
      181 gniftqqpsy ysdldetlpt ilqvfsnilq hcglqgdgan ttpqkleerg rltpsdmpll
      241 elkdivlylc dtcttlwafl difplacqtf qkhdfcyrll gdlwqrlshs rkklmeifhi
      301 ilnqicllpi lesscdniqg fieeflqifs sllqekrflr dydalfpvae disllqqass
      361 vldetrtayi lqavesaweg vdrrkatdak dpsvieepng epngvtvtae avsqasshpe
      421 nseeeecmga aaavgpamcg veldslisqv kdllpdlgeg filacleyyh ydpeqvinni
      481 leerlaptls qldrnldrem kpdptpllts rhnvfqndef dvfsrdsvdl srvhkgkstr
      541 keentrslln dkravaaqrq ryeqysvvve evplqpgesl pyhsvyyede yddtydgnqv
      601 gandadsdde lisrrpftip qvlrtkvpre gqeeddddee ddadeeapkv ppwqpdhfvq
      661 dpavlrekae arrmaflakk gyrhdsstav agsprghgqs rettqerrkk eankatranh
      721 nrrtmadrkr skgmips
//
LOCUS       XP_054203475             301 aa            linear   PRI 20-MAR-2023
DEFINITION  protein SEC13 homolog isoform X6 [Homo sapiens].
ACCESSION   XP_054203475
VERSION     XP_054203475.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347500.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..301
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..301
                     /product="protein SEC13 homolog isoform X6"
                     /calculated_mol_wt=33309
     CDS             1..301
                     /gene="SEC13"
                     /gene_synonym="D3S1231E; npp-20; SEC13L1; SEC13R"
                     /coded_by="XM_054347500.1:86..991"
                     /db_xref="GeneID:6396"
                     /db_xref="HGNC:HGNC:10697"
                     /db_xref="MIM:600152"
ORIGIN      
        1 mgkmvsvint vdtshedmih daqmdyygtr latcssdrsv kifdvrnggq iliadlrghe
       61 gpvwqvawah pmygnilasc sydrkviiwr eengtweksh ehaghdssvn svcwaphdyg
      121 lilacgssdg aislltytge gqwevkkinn ahtigcnavs wapavvpgsl idhpsgqkpn
      181 yikrfasggc dnliklwkee edgqwkeeqk leahsdwvrd vawapsiglp tstiascsqd
      241 grvfiwtcdd assntwspkl lhkfndvvwh vswsitanil avsggdnkee lqmqpqidhl
      301 p
//
LOCUS       XP_054207600             305 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 171 isoform X1 [Homo sapiens].
ACCESSION   XP_054207600
VERSION     XP_054207600.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351625.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..305
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..305
                     /product="transmembrane protein 171 isoform X1"
                     /calculated_mol_wt=32518
     CDS             1..305
                     /gene="TMEM171"
                     /gene_synonym="PRP2"
                     /coded_by="XM_054351625.1:191..1108"
                     /db_xref="GeneID:134285"
                     /db_xref="HGNC:HGNC:27031"
ORIGIN      
        1 mspaaaaepd gdqqdrhvsk lifcffvfga vllcvgvlls ifgfqacqyk plpdcpmvlk
       61 vagpacavvg lgavilarsr aqlqlgaglq rgqqmdpdra ficgesrqfa qclifgflfl
      121 tsgmlisvlg iwvpgcgskw aqeplnetdt gdseprmcgf lslqimgpli vlvglcffvv
      181 ahvkkrntln agqdaseree gqiqimepvq vtvasavaes pgtnsllpne nppsyysifn
      241 ygrtptsega aserdcesiy tisgtnssse ashtphlpse lppryeeken aaatflplss
      301 epspp
//
LOCUS       XP_054209020             599 aa            linear   PRI 20-MAR-2023
DEFINITION  succinate dehydrogenase [ubiquinone] flavoprotein subunit,
            mitochondrial isoform X3 [Homo sapiens].
ACCESSION   XP_054209020
VERSION     XP_054209020.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353045.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..599
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..599
                     /product="succinate dehydrogenase [ubiquinone]
                     flavoprotein subunit, mitochondrial isoform X3"
                     /calculated_mol_wt=65217
     CDS             1..599
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; SDH1;
                     SDH2; SDHF"
                     /coded_by="XM_054353045.1:37..1836"
                     /db_xref="GeneID:6389"
                     /db_xref="HGNC:HGNC:10680"
                     /db_xref="MIM:600857"
ORIGIN      
        1 msgvrglsrl lsarrlalak awptvlqtgt rgfhftvdgn krasakvsds isaqypvvdh
       61 efdavvvgag gaglraafgl seagfntacv tklfptrsht vaaqgginaa lgnmeednwr
      121 whfydtvkgs dwlgdqdaih ymteqapaav velenygmpf srtedgkiyq rafggqslkf
      181 gkggqahrcc cvadrtghsl lhtlygrslr ydtsyfveyf aldllmenge crgvialcie
      241 dgsihrirak ntvvatggyg rtyfsctsah tstgdgtami traglpcqdl efvqfhptgi
      301 ygagcliteg crgeggilin sqgerfmery apvakdlasr dvvsrsmtle iregrgcgpe
      361 kdhvylqlhh lppeqlatrl pgisetamif agvdvtkepi pvlptvhynm ggiptnykgq
      421 vlrhvngqdq ivpglyacge aacasvhgan rlganslldl vvfgracals ieescrpgdk
      481 vppikpnage esvmnldklr fadgsirtse lrlsmqkvri deydyskpiq gqqkkpfeeh
      541 wrkhtlsyvd vgtgkctare qhithrkqlc scdgglstrk ertigarssl nkseshyav
//
LOCUS       XP_054213511             183 aa            linear   PRI 20-MAR-2023
DEFINITION  protein phosphatase 1 regulatory subunit 35 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054213511
VERSION     XP_054213511.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357536.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..183
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..183
                     /product="protein phosphatase 1 regulatory subunit 35
                     isoform X1"
                     /calculated_mol_wt=20356
     CDS             1..183
                     /gene="PPP1R35"
                     /gene_synonym="C7orf47"
                     /coded_by="XM_054357536.1:117..668"
                     /db_xref="GeneID:221908"
                     /db_xref="HGNC:HGNC:28320"
                     /db_xref="MIM:618937"
ORIGIN      
        1 mtpgsdnrvr frltppspvr sepqpavpqe lempvlkssl alglelraaa gshfdaakav
       61 eeqlrksfqi rcgleesvse glnvprskrl frdlvslqvp eeqvlnaalr eklallppqa
      121 raphpkeppg pgpdmtilcd petlfyesph ltldglpplr lqlrprpsed tflmhrtlrr
      181 wea
//
LOCUS       XP_054213991             567 aa            linear   PRI 20-MAR-2023
DEFINITION  replication initiator 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054213991
VERSION     XP_054213991.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358016.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 40% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..567
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..567
                     /product="replication initiator 1 isoform X1"
                     /calculated_mol_wt=63437
     CDS             1..567
                     /gene="REPIN1"
                     /gene_synonym="AP4; RIP60; Zfp464; ZNF464"
                     /coded_by="XM_054358016.1:1262..2965"
                     /db_xref="GeneID:29803"
                     /db_xref="HGNC:HGNC:17922"
                     /db_xref="MIM:619039"
ORIGIN      
        1 mlerrcrgpl amgpaqprll sgpsqespqt lgkesrglrq qgtsvaqsga qapgrahrca
       61 hcrrhfpgwv alwlhtrrcq arlplpcpec ghrfrhvpfl alhrqvhaaa tpdlgfachl
      121 cgqsfrgwva lvlhlrahsa akrpiacpkc errfwrrkql rahlrrchpp apearpficg
      181 ncgrsfaqwd qlvahkrvhv aealeeaaak algprprgrp avtaprpggd avdrpfqcac
      241 cgkrfrhkpn liahrrvhtg erphqcpecg krftnkpylt shrrihtgek pypckecgrr
      301 frhkpnllsh skihkrsegs aqaapgpgsp qlpagpqesa aeptpavplk paqepppgap
      361 pehpqdpiea ppslyscddc grsfrlerfl rahqrqhtge rpftcaecgk nfgkkthlva
      421 hsrvhsgerp faceecgrrf sqgshlaahr rdhapdrpfv cpdcgkafrh kpylaahrri
      481 htgekpyvcp dcgkafsqks nlvshrriht gerpyacpdc drsfsqksnl ithrkshird
      541 gafccaicgq tfddeerlla hqkkhdv
//
LOCUS       XP_054216947             460 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein kinase Blk isoform X3 [Homo sapiens].
ACCESSION   XP_054216947
VERSION     XP_054216947.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360972.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..460
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..460
                     /product="tyrosine-protein kinase Blk isoform X3"
                     /calculated_mol_wt=52398
     CDS             1..460
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /coded_by="XM_054360972.1:296..1678"
                     /db_xref="GeneID:640"
                     /db_xref="HGNC:HGNC:1057"
                     /db_xref="MIM:191305"
ORIGIN      
        1 mndrdlqmlk geklqvlkgt gdwwlarslv tgregyvpsn fvarveslem erwffrsqgr
       61 keaerqllap inkagsflir esetnkgafs lsvkdvttqg elikhykirc ldeggyyisp
      121 ritfpslqal vqhyskkgdg lcqrltlpcv rpapqnpwaq deweiprqsl rlvrklgsgq
      181 fgevwmgyyk nnmkvaiktl kegtmspeaf lgeanvmkal qherlvrlya vvtkepiyiv
      241 teymarggap rraassergg raglsrrrrv rcgclldflk tdegsrlslp rlidmsaqia
      301 egmayiermn sihrdlraan ilvsealcck iadfglarii dseytaqega kfpikwtape
      361 aihfgvftik advwsfgvll mevvtygrvp ypgmsnpevi rnlergyrmp rpdtcppely
      421 rgviaecwrs rpeerptfef lqsvledfyt aterqyelqp
//
LOCUS       XP_054217919             579 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase UHRF2 isoform X3 [Homo sapiens].
ACCESSION   XP_054217919
VERSION     XP_054217919.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361944.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..579
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..579
                     /product="E3 ubiquitin-protein ligase UHRF2 isoform X3"
                     /calculated_mol_wt=64981
     CDS             1..579
                     /gene="UHRF2"
                     /gene_synonym="NIRF; RNF107; TDRD23; URF2"
                     /coded_by="XM_054361944.1:640..2379"
                     /db_xref="GeneID:115426"
                     /db_xref="HGNC:HGNC:12557"
                     /db_xref="MIM:615211"
ORIGIN      
        1 mnvkdlrpra rtilkwneln vgdvvmvnyn vespgqrgfw fdaeittlkt isrtkkelrv
       61 kiflggsegt lndckiisvd eifkierpga hplsfadgkf lrrndpecdl cggdpekkch
      121 scscrvcggk hepnmqllcd ecnvayhiyc lnppldkvpe eeywycpsck tdssevvkag
      181 erlkmskkka kmpsastesr rdwgrgmacv grtrectivp snhygpipgi pvgstwrfrv
      241 qvseagvhrp hvggihgrsn dgayslvlag gfadevdrgd eftytgsggk nlagnkriga
      301 psadqtltnm nralalncda plddkigaes rnwragkpvr virsfkgrki skyapeegnr
      361 ydgiykvvky wpeissshgf lvwryllrrd dvepapwtse giersrrlcl rlqypagyps
      421 dkegkkpkgq skkqpsgttk rpisdddcps askvykasds aeaieafqlt pqqqhlired
      481 cqnqklwdev lshlvegpnf lkkleqsfmc vccqelvyqp vttecfhnvc kdclqrsfka
      541 qvfscpacrh dlgqnyimip neilqtlldl ffpgyskgr
//
LOCUS       XP_054218637            1487 aa            linear   PRI 20-MAR-2023
DEFINITION  GTPase-activating protein and VPS9 domain-containing protein 1
            isoform X1 [Homo sapiens].
ACCESSION   XP_054218637
VERSION     XP_054218637.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362662.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1487
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1487
                     /product="GTPase-activating protein and VPS9
                     domain-containing protein 1 isoform X1"
                     /calculated_mol_wt=166038
     CDS             1..1487
                     /gene="GAPVD1"
                     /gene_synonym="GAPex-5; GAPEX5; RAP6"
                     /coded_by="XM_054362662.1:289..4752"
                     /db_xref="GeneID:26130"
                     /db_xref="HGNC:HGNC:23375"
                     /db_xref="MIM:611714"
ORIGIN      
        1 mvkldihtla hhlkqerlyv nsekqliqrl nadvlktaek lyrtawiakq qrinldrlii
       61 tsaeaspaec cqhakiledt qfvdgykqlg fqetaygefl srlrenprli asslvagekl
      121 nqentqsviy tvftslygnc imqedesyll qvlryliefe lkesdnprrl lrrgtcafsi
      181 lfklfseglf saklfltatl hepimqllve dedhletdpn klierfspsq qeklfgekgs
      241 drfrqkvqem vesneaklva lvnkfigylk qntycfphsl rwivsqmykt lscvdrlevg
      301 evramctdll lacficpavv npeqygiisd apinevarfn lmqvgrllqq lamtgseegd
      361 prtksslgkf dkscvaafld vviggravet pplssvnlle glsrtvvyit ysqlitlvnf
      421 mksvmsgdql redrmaldnl lanlppakpg kssslemtpy ntpqlspatt pankknrlpi
      481 atrsrsrtnm lmdlhmdheg ssqetiqevq peevlvislg tgpqltpgmm senevlnmql
      541 sdggqgdvpv denklhgkpd ktlrfslcsd nlegisegps nrsnsvssld legesvselg
      601 agpsgsngve alqlleheqa ttqdnlddkl rkfeirdmmg ltddrdiset vsetwstdvl
      661 gsdfdpnide drlqeiagaa aenmlgsllc lpgsgsvlld pctgstiset tseawsvevl
      721 psdseapdlk qeerlqeles csglgstsdd tdvrevssrp stpglsvvsg isatsedipn
      781 kiedlrsecs sdfggkdsvt spdmdeithd flyilqpkqh fqhieaeadm riqlsssahq
      841 ltsppsqses llamfdplss hegasavvrp kvhyarpshp ppdppilega vggnearlpn
      901 fgshvltpae meafkqrhsy perlvrsrss divssvrrpm sdpswnrrpg neerelppaa
      961 aigatslvaa phssssspsk dssrgeteer kdsddeksdr nrpwwrkrfv sampkapipf
     1021 rkkekqekdk ddlgpdrfst ltddpsprls aqaqvaedil dkyrnaikrt spsdgamany
     1081 estevmgdge sahdsprdea lqnisaddlp dsasqaahpq dsafsyrdak kklrlalcsa
     1141 dsvafpvlth strnglpdht dpedneivcf lkvqiaeain lqdknlmaql qetmrcvcrf
     1201 dnrtcrklla siaedyrkra pyiayltrcr qglqttqahl erllqrvlrd kevanryftt
     1261 vcvrlllesk ekkirefiqd fqkltaaddk taqvedflqf lygamaqdvi wqnaseeqlq
     1321 daqlaiersv mnrifklafy pnqdgdilrd qvlhehiqrl skvvtanhra lqipevylre
     1381 apwpsaqsei rtisayktpr dkvqcilrmc stimnllsla nedsvpgadd fvpvlvfvli
     1441 kanppcllst vqyissfyas clsgeesyww mqftaavefi ktiddrk
//
LOCUS       XP_054219135             255 aa            linear   PRI 20-MAR-2023
DEFINITION  methylglutaconyl-CoA hydratase, mitochondrial isoform X9 [Homo
            sapiens].
ACCESSION   XP_054219135
VERSION     XP_054219135.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363160.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..255
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..255
                     /product="methylglutaconyl-CoA hydratase, mitochondrial
                     isoform X9"
                     /calculated_mol_wt=26204
     CDS             1..255
                     /gene="AUH"
                     /coded_by="XM_054363160.1:30..797"
                     /db_xref="GeneID:549"
                     /db_xref="HGNC:HGNC:890"
                     /db_xref="MIM:600529"
ORIGIN      
        1 maaavaaapg algslhagga rlvaacsawl cpglrlpgsl agrragpaiw aqgwvpaagg
       61 papkrgysse mktedelrvr hleeenrgiv vlginraygk nslsknlikm lskavdalks
      121 dkkvrtiiir sevpgifcag adlkerakms ssevgpfvsk iravindian lpvptiaaid
      181 glalggglel alacdirvaa ssakmglvet klaiipggvt sstevlnpsk ssmkigiiif
      241 qtpvnidila sshes
//
LOCUS       NP_001158090             564 aa            linear   PRI 23-MAR-2023
DEFINITION  glypican-3 isoform 3 precursor [Homo sapiens].
ACCESSION   NP_001158090
VERSION     NP_001158090.1
DBSOURCE    REFSEQ: accession NM_001164618.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 564)
  AUTHORS   Mamdouh S, Soliman A, Khorshed F and Saber M.
  TITLE     Glypican-3, Vascular Endothelial Growth Factor and Golgi Protein-73
            for Differentiation between Liver Cirrhosis and Hepatocellular
            Carcinoma
  JOURNAL   Asian Pac J Cancer Prev 24 (2), 497-507 (2023)
   PUBMED   36853298
  REMARK    GeneRIF: Glypican-3, Vascular Endothelial Growth Factor and Golgi
            Protein-73 for Differentiation between Liver Cirrhosis and
            Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 564)
  AUTHORS   Chaturvedi TP, Gupta K, Agrawal R, Naveen Kumar PG and Gupta J.
  TITLE     Immunohistochemical expression of Ki-67 and Glypican-3 to
            distinguish aggressive from nonaggressive benign odontogenic tumors
  JOURNAL   J Cancer Res Ther 18 (Supplement), S205-S209 (2022)
   PUBMED   36510965
  REMARK    GeneRIF: Immunohistochemical expression of Ki-67 and Glypican-3 to
            distinguish aggressive from nonaggressive benign odontogenic
            tumors.
REFERENCE   3  (residues 1 to 564)
  AUTHORS   Davoodi J, Kelly J, Gendron NH and MacKenzie AE.
  TITLE     The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to
            and inhibits the dipeptidyl peptidase activity of CD26
  JOURNAL   Proteomics 7 (13), 2300-2310 (2007)
   PUBMED   17549790
  REMARK    GeneRIF: Both the glycosylated and unglycosylated forms of GPC3
            interact with CD26 peptidase, resulting in inhibition of the
            enzyme.
REFERENCE   4  (residues 1 to 564)
  AUTHORS   Hsu HC, Cheng W and Lai PL.
  TITLE     Cloning and expression of a developmentally regulated transcript
            MXR7 in hepatocellular carcinoma: biological significance and
            temporospatial distribution
  JOURNAL   Cancer Res 57 (22), 5179-5184 (1997)
   PUBMED   9371521
REFERENCE   5  (residues 1 to 564)
  AUTHORS   Huber R, Crisponi L, Mazzarella R, Chen CN, Su Y, Shizuya H, Chen
            EY, Cao A and Pilia G.
  TITLE     Analysis of exon/intron structure and 400 kb of genomic sequence
            surrounding the 5'-promoter and 3'-terminal ends of the human
            glypican 3 (GPC3) gene
  JOURNAL   Genomics 45 (1), 48-58 (1997)
   PUBMED   9339360
REFERENCE   6  (residues 1 to 564)
  AUTHORS   Lage H and Dietel M.
  TITLE     Cloning and characterization of human cDNAs encoding a protein with
            high homology to rat intestinal development protein OCI-5
  JOURNAL   Gene 188 (2), 151-156 (1997)
   PUBMED   9133586
REFERENCE   7  (residues 1 to 564)
  AUTHORS   Xuan JY, Besner A, Ireland M, Hughes-Benzie RM and MacKenzie AE.
  TITLE     Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27
  JOURNAL   Hum Mol Genet 3 (1), 133-137 (1994)
   PUBMED   7909248
REFERENCE   8  (residues 1 to 564)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
REFERENCE   9  (residues 1 to 564)
  AUTHORS   Turner,J.T., Brzezinski,J. and Dome,J.S.
  TITLE     Wilms Tumor Predisposition
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301471
REFERENCE   10 (residues 1 to 564)
  AUTHORS   Sajorda,B.J., Gonzalez-Gandolfi,C.X., Hathaway,E.R. and Kalish,J.M.
  TITLE     Simpson-Golabi-Behmel Syndrome Type 1
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301398
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK300168.1 and AK222766.1.
            
            Summary: Cell surface heparan sulfate proteoglycans are composed of
            a membrane-associated protein core substituted with a variable
            number of heparan sulfate chains. Members of the glypican-related
            integral membrane proteoglycan family (GRIPS) contain a core
            protein anchored to the cytoplasmic membrane via a glycosyl
            phosphatidylinositol linkage. These proteins may play a role in the
            control of cell division and growth regulation. The protein encoded
            by this gene can bind to and inhibit the dipeptidyl peptidase
            activity of CD26, and it can induce apoptosis in certain cell
            types. Deletion mutations in this gene are associated with
            Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia
            syndrome. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (3) uses an alternate in-frame
            splice site in the 5' coding region and lacks an alternate in-frame
            exon in the central coding region, compared to variant 1, resulting
            in an isoform (3) that is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.3307727.1, AK300168.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..564
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.2"
     Protein         1..564
                     /product="glypican-3 isoform 3 precursor"
                     /note="glypican proteoglycan 3; intestinal protein OCI-5;
                     secreted glypican-3; heparan sulphate proteoglycan"
                     /calculated_mol_wt=61281
     sig_peptide     1..24
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2465
     Region          14..561
                     /region_name="Glypican"
                     /note="pfam01153"
                     /db_xref="CDD:426084"
     mat_peptide     25..564
                     /product="glypican-3 isoform 3"
                     /calculated_mol_wt=61281
     CDS             1..564
                     /gene="GPC3"
                     /gene_synonym="DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS;
                     SGBS1"
                     /coded_by="NM_001164618.2:146..1840"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS94667.1"
                     /db_xref="GeneID:2719"
                     /db_xref="HGNC:HGNC:4451"
                     /db_xref="MIM:300037"
ORIGIN      
        1 magtvrtacl vvamllsldf pgqaqppppp pdatchqvrs ffqrlqpglk wvpetpvpgs
       61 dlqvclpkgp tccsrkmeek yqltarlnme qllqsakafe ivvrhaknyt namfknnyps
      121 ltpqafefvg efftdvslyi lgsdinvddm vnelfdslfp viytqlmnpg lpdsaldine
      181 clrgarrdlk vfgnfpklim tqvskslqvt riflqalnlg ievinttdhl kfskdcgrml
      241 trmwycsycq glmmvkpcgg ycnvvmqgcm agvveidkyw reyilsleel vngmyriydm
      301 envllglfst ihdsiqyvqk nagkltttig klcahsqqrq yrsayypedl fidkkvlkva
      361 hveheetlss rrreliqklk sfisfysalp gyicshspva endtlcwngq elverysqka
      421 arngmknqfn lhelkmkgpe pvvsqiidkl khinqllrtm smpkgrvldk nldeegfesg
      481 dcgddedeci ggsgdgmikv knqlrflael aydldvddap gnsqqatpkd neistfhnlg
      541 nvhsplkllt smaisvvcff flvh
//
LOCUS       NP_003262                238 aa            linear   PRI 25-MAR-2023
DEFINITION  tetraspanin-4 isoform a [Homo sapiens].
ACCESSION   NP_003262
VERSION     NP_003262.1
DBSOURCE    REFSEQ: accession NM_003271.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 238)
  AUTHORS   Zheng Y, Lang Y, Qi B and Li T.
  TITLE     TSPAN4 and migrasomes in atherosclerosis regression correlated to
            myocardial infarction and pan-cancer progression
  JOURNAL   Cell Adh Migr 17 (1), 14-19 (2023)
   PUBMED   36513632
  REMARK    GeneRIF: TSPAN4 and migrasomes in atherosclerosis regression
            correlated to myocardial infarction and pan-cancer progression.
REFERENCE   2  (residues 1 to 238)
  AUTHORS   Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Shaw
            GM, Reefhuis J, Jenkins MM, Almli LM, Olshan AF, Pangilinan F,
            Brody LC, Sicko RJ, Hobbs CA, Bamshad M, McGoldrick D, Nickerson
            DA, Finnell RH, Mullikin J, Romitti PA and Mills JL.
  CONSRTM   University of Washington Center for Mendelian Genomics, NISC
            Comparative Sequencing Program and the National Birth Defects
            Prevention Study
  TITLE     Exome sequencing of child-parent trios with bladder exstrophy:
            Findings in 26 children
  JOURNAL   Am J Med Genet A 185 (10), 3028-3041 (2021)
   PUBMED   34355505
  REMARK    GeneRIF: Exome sequencing of child-parent trios with bladder
            exstrophy: Findings in 26 children.
REFERENCE   3  (residues 1 to 238)
  AUTHORS   Ma X, Verweij EWE, Siderius M, Leurs R and Vischer HF.
  TITLE     Identification of TSPAN4 as Novel Histamine H4 Receptor Interactor
  JOURNAL   Biomolecules 11 (8), 1127 (2021)
   PUBMED   34439793
  REMARK    GeneRIF: Identification of TSPAN4 as Novel Histamine H4 Receptor
            Interactor.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 238)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 238)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 238)
  AUTHORS   Yauch RL, Kazarov AR, Desai B, Lee RT and Hemler ME.
  TITLE     Direct extracellular contact between integrin alpha(3)beta(1) and
            TM4SF protein CD151
  JOURNAL   J Biol Chem 275 (13), 9230-9238 (2000)
   PUBMED   10734060
REFERENCE   7  (residues 1 to 238)
  AUTHORS   Lozahic S, Christiansen D, Manie S, Gerlier D, Billard M, Boucheix
            C and Rubinstein E.
  TITLE     CD46 (membrane cofactor protein) associates with multiple beta1
            integrins and tetraspans
  JOURNAL   Eur J Immunol 30 (3), 900-907 (2000)
   PUBMED   10741407
REFERENCE   8  (residues 1 to 238)
  AUTHORS   Serru V, Le Naour F, Billard M, Azorsa DO, Lanza F, Boucheix C and
            Rubinstein E.
  TITLE     Selective tetraspan-integrin complexes (CD81/alpha4beta1,
            CD151/alpha3beta1, CD151/alpha6beta1) under conditions disrupting
            tetraspan interactions
  JOURNAL   Biochem J 340 (Pt 1) (Pt 1), 103-111 (1999)
   PUBMED   10229664
REFERENCE   9  (residues 1 to 238)
  AUTHORS   Todd SC, Doctor VS and Levy S.
  TITLE     Sequences and expression of six new members of the
            tetraspanin/TM4SF family
  JOURNAL   Biochim Biophys Acta 1399 (1), 101-104 (1998)
   PUBMED   9714763
REFERENCE   10 (residues 1 to 238)
  AUTHORS   Tachibana I, Bodorova J, Berditchevski F, Zutter MM and Hemler ME.
  TITLE     NAG-2, a novel transmembrane-4 superfamily (TM4SF) protein that
            complexes with integrins and other TM4SF proteins
  JOURNAL   J Biol Chem 272 (46), 29181-29189 (1997)
   PUBMED   9360996
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM755435.1, BC000389.2 and
            BM555783.1.
            
            Summary: The protein encoded by this gene is a member of the
            transmembrane 4 superfamily, also known as the tetraspanin family.
            Most of these members are cell-surface proteins that are
            characterized by the presence of four hydrophobic domains. The
            proteins mediate signal transduction events that play a role in the
            regulation of cell development, activation, growth and motility.
            This encoded protein is a cell surface glycoprotein and is similar
            in sequence to its family member CD53 antigen. It is known to
            complex with integrins and other transmembrane 4 superfamily
            proteins. Alternatively spliced transcript variants encoding
            different isoforms have been identified. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (5) differs in the 5' UTR,
            compared to variant 1. Variants 1, 2, 3, 4, 5 and 6 encode the same
            isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.838167.1,
                                           SRR3476690.185802.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397397.7/ ENSP00000380552.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..238
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     Protein         1..238
                     /product="tetraspanin-4 isoform a"
                     /note="transmembrane 4 superfamily member 7; tetraspan
                     TM4SF; novel antigen 2"
                     /calculated_mol_wt=25987
     Region          9..228
                     /region_name="Tetraspannin"
                     /note="Tetraspanin family; pfam00335"
                     /db_xref="CDD:425616"
     Site            14..34
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O14817.1)"
     Site            56..76
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O14817.1)"
     Site            86..106
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O14817.1)"
     Region          105..202
                     /region_name="NET-5_like_LEL"
                     /note="Tetraspanin, extracellular domain or large
                     extracellular loop (LEL), NET-5_like family. Tetraspanins
                     are trans-membrane proteins with 4 trans-membrane
                     segments. Both the N- and C-termini lie on the
                     intracellular side of the membrane. This alignment
                     model...; cd03165"
                     /db_xref="CDD:239418"
     Site            order(106,111,115,117..118,121,137,140..141,144..145)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:239418"
     Site            152
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O14817.1)"
     Site            161
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (O14817.1)"
     Site            202..222
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O14817.1)"
     CDS             1..238
                     /gene="TSPAN4"
                     /gene_synonym="NAG-2; NAG2; TETRASPAN; TM4SF7; TSPAN-4"
                     /coded_by="NM_003271.5:182..898"
                     /note="isoform a is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS7721.1"
                     /db_xref="GeneID:7106"
                     /db_xref="HGNC:HGNC:11859"
                     /db_xref="MIM:602644"
ORIGIN      
        1 maraclqavk ylmfafnllf wlggcgvlgv giwlaatqgs fatlsssfps lsaanlliit
       61 gafvmaigfv gclgaikenk cllltfflll llvflleati ailffaytdk idryaqqdlk
      121 kglhlygtqg nvgltnawsi iqtdfrccgv snytdwfevy natrvpdscc lefsescglh
      181 apgtwwkapc yetvkvwlqe nllavgifgl ctalvqilgl tfamtmycqv vkadtyca
//
LOCUS       NP_001375315            1168 aa            linear   PRI 26-MAR-2023
DEFINITION  sterol regulatory element-binding protein 1 isoform 5 [Homo
            sapiens].
ACCESSION   NP_001375315
VERSION     NP_001375315.1
DBSOURCE    REFSEQ: accession NM_001388386.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1168)
  AUTHORS   Kamoshita K, Ishii KA, Tahira Y, Kikuchi A, Abuduwaili H,
            Tajima-Shirasaki N, Li Q, Takayama H, Matsumoto K and Takamura T.
  TITLE     Insulin Suppresses Ubiquitination via the Deubiquitinating Enzyme
            Ubiquitin-Specific Protease 14, Independent of Proteasome Activity
            in H4IIEC3 Hepatocytes
  JOURNAL   J Pharmacol Exp Ther 385 (1), 5-16 (2023)
   PUBMED   36328485
  REMARK    GeneRIF: Insulin Suppresses Ubiquitination via the Deubiquitinating
            Enzyme Ubiquitin-Specific Protease 14, Independent of Proteasome
            Activity in H4IIEC3 Hepatocytes.
REFERENCE   2  (residues 1 to 1168)
  AUTHORS   Chen X, Yong H, Chen M, Deng C, Wang P, Chu S, Li M, Hou P, Zheng
            J, Li Z and Bai J.
  TITLE     TRIM21 attenuates renal carcinoma lipogenesis and malignancy by
            regulating SREBF1 protein stability
  JOURNAL   J Exp Clin Cancer Res 42 (1), 34 (2023)
   PUBMED   36694250
  REMARK    GeneRIF: TRIM21 attenuates renal carcinoma lipogenesis and
            malignancy by regulating SREBF1 protein stability.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1168)
  AUTHORS   Zhu Y, Yang Y, Bu H, Huang H, Chen H, Ran J, Qin L, Ni Y, Yao M,
            Song T, Li M, Yang Y, Guo T, Chao N, Liu Z, Li W and Zhang L.
  TITLE     Apelin-mediated deamidation of HMGA1 promotes tumorigenesis by
            enhancing SREBP1 activity and lipid synthesis
  JOURNAL   Cancer Sci 113 (11), 3722-3734 (2022)
   PUBMED   36087034
  REMARK    GeneRIF: Apelin-mediated deamidation of HMGA1 promotes
            tumorigenesis by enhancing SREBP1 activity and lipid synthesis.
REFERENCE   4  (residues 1 to 1168)
  AUTHORS   Jin JH, Zhao BS and Liu YZ.
  TITLE     [Research on the mechanism of hypoxia promoting the migration of
            lung adenocarcinoma A549 cells]
  JOURNAL   Zhongguo Ying Yong Sheng Li Xue Za Zhi 38 (1), 68-74 (2022)
   PUBMED   35634673
  REMARK    GeneRIF: [Research on the mechanism of hypoxia promoting the
            migration of lung adenocarcinoma A549 cells].
REFERENCE   5  (residues 1 to 1168)
  AUTHORS   Hua X, Wu J, Goldstein JL, Brown MS and Hobbs HH.
  TITLE     Structure of the human gene encoding sterol regulatory element
            binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to
            chromosomes 17p11.2 and 22q13
  JOURNAL   Genomics 25 (3), 667-673 (1995)
   PUBMED   7759101
REFERENCE   6  (residues 1 to 1168)
  AUTHORS   Sato R, Yang J, Wang X, Evans MJ, Ho YK, Goldstein JL and Brown MS.
  TITLE     Assignment of the membrane attachment, DNA binding, and
            transcriptional activation domains of sterol regulatory
            element-binding protein-1 (SREBP-1)
  JOURNAL   J Biol Chem 269 (25), 17267-17273 (1994)
   PUBMED   8006035
REFERENCE   7  (residues 1 to 1168)
  AUTHORS   Wang X, Sato R, Brown MS, Hua X and Goldstein JL.
  TITLE     SREBP-1, a membrane-bound transcription factor released by
            sterol-regulated proteolysis
  JOURNAL   Cell 77 (1), 53-62 (1994)
   PUBMED   8156598
REFERENCE   8  (residues 1 to 1168)
  AUTHORS   Hua X, Yokoyama C, Wu J, Briggs MR, Brown MS, Goldstein JL and Wang
            X.
  TITLE     SREBP-2, a second basic-helix-loop-helix-leucine zipper protein
            that stimulates transcription by binding to a sterol regulatory
            element
  JOURNAL   Proc Natl Acad Sci U S A 90 (24), 11603-11607 (1993)
   PUBMED   7903453
REFERENCE   9  (residues 1 to 1168)
  AUTHORS   Yokoyama C, Wang X, Briggs MR, Admon A, Wu J, Hua X, Goldstein JL
            and Brown MS.
  TITLE     SREBP-1, a basic-helix-loop-helix-leucine zipper protein that
            controls transcription of the low density lipoprotein receptor gene
  JOURNAL   Cell 75 (1), 187-197 (1993)
   PUBMED   8402897
REFERENCE   10 (residues 1 to 1168)
  AUTHORS   Wang X, Briggs MR, Hua X, Yokoyama C, Goldstein JL and Brown MS.
  TITLE     Nuclear protein that binds sterol regulatory element of low density
            lipoprotein receptor promoter. II. Purification and
            characterization
  JOURNAL   J Biol Chem 268 (19), 14497-14504 (1993)
   PUBMED   8314806
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC122129.9.
            
            Summary: This gene encodes a basic helix-loop-helix-leucine zipper
            (bHLH-Zip) transcription factor that binds to the sterol regulatory
            element-1 (SRE1), which is a motif that is found in the promoter of
            the low density lipoprotein receptor gene and other genes involved
            in sterol biosynthesis. The encoded protein is synthesized as a
            precursor that is initially attached to the nuclear membrane and
            endoplasmic reticulum. Following cleavage, the mature protein
            translocates to the nucleus and activates transcription. This
            cleaveage is inhibited by sterols. This gene is located within the
            Smith-Magenis syndrome region on chromosome 17. Alternative
            promoter usage and splicing result in multiple transcript variants,
            including SREBP-1a and SREBP-1c, which correspond to RefSeq
            transcript variants 2 and 3, respectively. [provided by RefSeq, Nov
            2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.3257739.1,
                                           SRR14372080.1431547.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1168
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     Protein         1..1168
                     /product="sterol regulatory element-binding protein 1
                     isoform 5"
                     /note="class D basic helix-loop-helix protein 1"
                     /calculated_mol_wt=123705
     Region          1..60
                     /region_name="Transcriptional activation (acidic).
                     /evidence=ECO:0000305|PubMed:8402897"
                     /note="propagated from UniProtKB/Swiss-Prot (P36956.2)"
     Region          27..35
                     /region_name="9aaTAD.
                     /evidence=ECO:0000269|PubMed:31375868"
                     /note="propagated from UniProtKB/Swiss-Prot (P36956.2)"
     Region          39..193
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P36956.2)"
     Region          <49..320
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          <87..>210
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     Site            98
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P56720; propagated from
                     UniProtKB/Swiss-Prot (P36956.2)"
     Site            117
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P36956.2)"
     Region          234..497
                     /region_name="Interaction with LMNA.
                     /evidence=ECO:0000250|UniProtKB:Q9WTN3"
                     /note="propagated from UniProtKB/Swiss-Prot (P36956.2)"
     Region          319..393
                     /region_name="bHLHzip_SREBP1"
                     /note="basic Helix-Loop-Helix-zipper (bHLHzip) domain
                     found in sterol regulatory element-binding protein 1
                     (SREBP1) and similar proteins; cd18921"
                     /db_xref="CDD:381491"
     Site            order(319,325,327..329,331..332,334..336,340,358..359)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381491"
     Site            order(335,338..339,342..343,345..346,349,359..360,
                     363..364,367,369..371,373..374,376..377,380..381,383..384,
                     387..388,391)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:381491"
     Site            337
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by SIK1.
                     /evidence=ECO:0000250|UniProtKB:Q9WTN3; propagated from
                     UniProtKB/Swiss-Prot (P36956.2)"
     Site            338
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by SIK1.
                     /evidence=ECO:0000250|UniProtKB:Q9WTN3; propagated from
                     UniProtKB/Swiss-Prot (P36956.2)"
     Region          373..394
                     /region_name="Leucine-zipper"
                     /note="propagated from UniProtKB/Swiss-Prot (P36956.2)"
     Site            396
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by AMPK.
                     /evidence=ECO:0000250|UniProtKB:Q9WTN3; propagated from
                     UniProtKB/Swiss-Prot (P36956.2)"
     Site            402
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by SIK1.
                     /evidence=ECO:0000250|UniProtKB:Q9WTN3; propagated from
                     UniProtKB/Swiss-Prot (P36956.2)"
     Region          421..479
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P36956.2)"
     Site            457
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9WTN3; propagated from
                     UniProtKB/Swiss-Prot (P36956.2)"
     Site            460..461
                     /site_type="cleavage"
                     /note="Cleavage, by caspase-3 and caspase-7.
                     /evidence=ECO:0000250|UniProtKB:Q12772; propagated from
                     UniProtKB/Swiss-Prot (P36956.2)"
     Site            488..508
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P36956.2)"
     Site            490..491
                     /site_type="cleavage"
                     /note="Cleavage, by MBTPS2.
                     /evidence=ECO:0000250|UniProtKB:Q12772; propagated from
                     UniProtKB/Swiss-Prot (P36956.2)"
     Site            530..531
                     /site_type="cleavage"
                     /note="Cleavage, by MBTPS1.
                     /evidence=ECO:0000305|PubMed:8626610; propagated from
                     UniProtKB/Swiss-Prot (P36956.2)"
     Site            548..568
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P36956.2)"
     CDS             1..1168
                     /gene="SREBF1"
                     /gene_synonym="bHLHd1; HMD; IFAP2; SREBP1"
                     /coded_by="NM_001388386.1:170..3676"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:6720"
                     /db_xref="HGNC:HGNC:11289"
                     /db_xref="MIM:184756"
ORIGIN      
        1 mdeppfseaa leqalgepcd ldaalltdie dmlqlinnqd sdfpglfdpp yagsgaggtd
       61 paspdtsspg slspppatls ssleaflsgp qaapsplspp qpaptplkmy psmpafspgp
      121 gikeesvpls ilqtptpqpl pgallpqsfp apappqfsst pvlgypsppg gfstgsppgn
      181 tqqplpglpl asppgvppvs lhtqvqsvvp qqlltvtaap taapvtttvt sqiqqvpvll
      241 qphfikadsl lltamktdga tvkaaglspl vsgttvqtgp lptlvsggti latvplvvda
      301 eklpinrlaa gskapasaqs rgekrtahna iekryrssin dkiielkdlv vgteaklnks
      361 avlrkaidyi rflqhsnqkl kqenlslrta vhkskslkdl vsacgsggnt dvlmegvkte
      421 vedtltppps dagspfqssp lslgsrgsgs ggsgsdsepd spvfedskak peqrpslhsr
      481 gmldrsrlal ctlvflclsc nplasllgar glpspsdtts vyhspgrnvl gtesrdgpgw
      541 aqwllppvvw llngllvlvs lvllfvygep vtrphsgpav yfwrhrkqad ldlargdfaq
      601 aaqqlwlalr algrplptsh ldlacsllwn lirhllqrlw vgrwlagrag glqqdcalrv
      661 dasasardaa lvyhklhqlh tmgkhtgghl tatnlalsal nlaecagdav svatlaeiyv
      721 aaalrvktsl pralhfltrf flssarqacl aqsgsvppam qwlchpvghr ffvdgdwsvl
      781 stpweslysl agnpvdplaq vtqlfrehll eralncvtqp npspgsadgd kefsdalgyl
      841 qllnscsdaa gapaysfsis ssmatttgvd pvakwwaslt avvihwlrrd eeaaerlcpl
      901 vehlprvlqe serplpraal hsfkaarall gcakaesgpa slticekasg ylqdslattp
      961 asssidkavq lflcdlllvv rtslwrqqqp papapaaqgt ssrpqasale lrgfqrdlss
     1021 lrrlaqsfrp amrrarwrsw srgprggstr rpccwppatc ppascrrpgs awacwlrrra
     1081 hsrslaiagc cttvsrcsca wavgplslpa rprvpglstp vsshfgpvql lscvealkae
     1141 gsardsglhs stcgccvpsr wkargars
//
LOCUS       NP_001340880            1998 aa            linear   PRI 28-MAR-2023
DEFINITION  sodium channel protein type 1 subunit alpha isoform 2 [Homo
            sapiens].
ACCESSION   NP_001340880
VERSION     NP_001340880.1
DBSOURCE    REFSEQ: accession NM_001353951.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1998)
  AUTHORS   Berecki G, Bryson A, Polster T and Petrou S.
  TITLE     Biophysical characterization and modelling of SCN1A
            gain-of-function predicts interneuron hyperexcitability and a
            predisposition to network instability through homeostatic
            plasticity
  JOURNAL   Neurobiol Dis 179, 106059 (2023)
   PUBMED   36868483
  REMARK    GeneRIF: Biophysical characterization and modelling of SCN1A
            gain-of-function predicts interneuron hyperexcitability and a
            predisposition to network instability through homeostatic
            plasticity.
REFERENCE   2  (residues 1 to 1998)
  AUTHORS   Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I,
            Takeuchi T, Itohara S, Yanagawa Y, Obata K, Furuichi T, Hensch TK
            and Yamakawa K.
  TITLE     Nav1.1 localizes to axons of parvalbumin-positive inhibitory
            interneurons: a circuit basis for epileptic seizures in mice
            carrying an Scn1a gene mutation
  JOURNAL   J Neurosci 27 (22), 5903-5914 (2007)
   PUBMED   17537961
  REMARK    GeneRIF: Nav1.1 plays a critical role in the spike output from
            parvalbumin-positive interneurons and contributes to epileptic
            seizures in mice.
REFERENCE   3  (residues 1 to 1998)
  AUTHORS   Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF and
            Harkin LA.
  TITLE     SCN1A mutations and epilepsy
  JOURNAL   Hum Mutat 25 (6), 535-542 (2005)
   PUBMED   15880351
  REMARK    GeneRIF: epilepsy related mutations
            Review article
REFERENCE   4  (residues 1 to 1998)
  AUTHORS   Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada
            K, Iwasa H, Yasumoto S, Matsuo M, Ito M, Mitsudome A and Kaneko S.
  TITLE     Effect of localization of missense mutations in SCN1A on epilepsy
            phenotype severity
  JOURNAL   Neurology 63 (2), 329-334 (2004)
   PUBMED   15277629
  REMARK    GeneRIF: Mutations in the pore regions may produce more severe
            channel dysfunction, including activation/inactivation dysfunction
            or abnormal voltage dependency, than those in other transmembrane
            regions, resulting in a more severe epilepsy phenotype.
            Review article
REFERENCE   5  (residues 1 to 1998)
  AUTHORS   Lossin C, Wang DW, Rhodes TH, Vanoye CG and George AL Jr.
  TITLE     Molecular basis of an inherited epilepsy
  JOURNAL   Neuron 34 (6), 877-884 (2002)
   PUBMED   12086636
  REMARK    GeneRIF: The effects of three mutations in SCN1A have been
            characterized in cultured mammalian cells as a gain-of-function
            abnormality causing prolonged membrane depolarization, a plausible
            underlying biophysical mechanism responsible for inherited
            epilepsy.
REFERENCE   6  (residues 1 to 1998)
  AUTHORS   Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G,
            An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C
            and Malafosse A.
  TITLE     Mutations of SCN1A, encoding a neuronal sodium channel, in two
            families with GEFS+2
  JOURNAL   Nat Genet 24 (4), 343-345 (2000)
   PUBMED   10742094
REFERENCE   7  (residues 1 to 1998)
  AUTHORS   Malo MS, Blanchard BJ, Andresen JM, Srivastava K, Chen XN, Li X,
            Jabs EW, Korenberg JR and Ingram VM.
  TITLE     Localization of a putative human brain sodium channel gene (SCN1A)
            to chromosome band 2q24
  JOURNAL   Cytogenet Cell Genet 67 (3), 178-186 (1994)
   PUBMED   8062593
REFERENCE   8  (residues 1 to 1998)
  AUTHORS   Jen,J.C.
  TITLE     Familial Hemiplegic Migraine
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301562
REFERENCE   9  (residues 1 to 1998)
  AUTHORS   Miller,I.O. and Sotero de Menezes,M.A.
  TITLE     SCN1A Seizure Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301494
REFERENCE   10 (residues 1 to 1998)
  AUTHORS   Lu CM, Han J, Rado TA and Brown GB.
  TITLE     Differential expression of two sodium channel subtypes in human
            brain
  JOURNAL   FEBS Lett 303 (1), 53-58 (1992)
   PUBMED   1317301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010127.12.
            
            Summary: Voltage-dependent sodium channels are heteromeric
            complexes that regulate sodium exchange between intracellular and
            extracellular spaces and are essential for the generation and
            propagation of action potentials in muscle cells and neurons. Each
            sodium channel is composed of a large pore-forming, glycosylated
            alpha subunit and two smaller beta subunits. This gene encodes a
            sodium channel alpha subunit, which has four homologous domains,
            each of which contains six transmembrane regions. Allelic variants
            of this gene are associated with generalized epilepsy with febrile
            seizures and epileptic encephalopathy. Alternative splicing results
            in multiple transcript variants. The RefSeq Project has decided to
            create four representative RefSeq records. Three of the transcript
            variants are supported by experimental evidence and the fourth
            contains alternate 5' untranslated exons, the exact combination of
            which have not been experimentally confirmed for the full-length
            transcript. [provided by RefSeq, Oct 2015].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.244020.1,
                                           SRR1803612.116204.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1998
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.3"
     Protein         1..1998
                     /product="sodium channel protein type 1 subunit alpha
                     isoform 2"
                     /note="sodium channel, voltage-gated, type I, alpha
                     polypeptide; sodium channel protein, brain I alpha
                     subunit; sodium channel protein type 1 subunit alpha;
                     sodium channel, voltage-gated, type I, alpha subunit;
                     sodium channel protein type I subunit alpha; voltage-gated
                     sodium channel subunit alpha Nav1.1; sodium channel
                     voltage gated type 1 alpha subunit"
                     /calculated_mol_wt=227660
     Region          28..60
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          110..454
                     /region_name="I. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          127..433
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Site            129..147
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            155..175
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            190..207
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            211
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            214..230
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            250..269
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            284
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            295
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            301
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            306
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            338
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            400..420
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          455..529
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            470
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04774; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            523
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04774; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            525
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04774; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            550
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04774; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            551
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A2APX8; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Region          555..707
                     /region_name="Na_trans_cytopl"
                     /note="Cytoplasmic domain of voltage-gated Na+ ion
                     channel; pfam11933"
                     /db_xref="CDD:432199"
     Region          584..627
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            607
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04774; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            719
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04774; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Region          739..1011
                     /region_name="II. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          756..969
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Site            758..776
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            788..807
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            822..841
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            844..861
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            878..896
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            960..980
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          995..1202
                     /region_name="Na_trans_assoc"
                     /note="Sodium ion transport-associated; pfam06512"
                     /db_xref="CDD:428983"
     Region          1118..1152
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          1189..1503
                     /region_name="III. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          1206..1481
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Site            1209..1226
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1240..1258
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1273..1291
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1300..1318
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1336..1355
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1367
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            1381
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            1392
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            1447..1468
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          1473..1525
                     /region_name="Na_channel_gate"
                     /note="Inactivation gate of the voltage-gated sodium
                     channel alpha subunits; cd13433"
                     /db_xref="CDD:240441"
     Site            1487..1490
                     /site_type="other"
                     /note="putative hydrophobic latch"
                     /db_xref="CDD:240441"
     Site            1505
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Region          1512..1810
                     /region_name="IV. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          1529..1785
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Site            1532..1549
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          1550..1560
                     /region_name="S1-S2 loop of repeat IV.
                     /evidence=ECO:0000250|UniProtKB:A2APX8"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1561..1579
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1563
                     /site_type="other"
                     /note="Key residue that permits the spider
                     beta/delta-theraphotoxin-Pre1a to inhibit fast
                     inactivation of the channel.
                     /evidence=ECO:0000269|PubMed:28428547; propagated from
                     UniProtKB/Swiss-Prot (P35498.2)"
     Site            1592..1609
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          1608..1625
                     /region_name="S3b-S4 loop of repeat IV.
                     /evidence=ECO:0000250|UniProtKB:A2APX8"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1623..1639
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1659..1676
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Site            1752..1774
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     Region          1975..1998
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35498.2)"
     CDS             1..1998
                     /gene="SCN1A"
                     /gene_synonym="DEE6; DEE6A; DEE6B; DRVT; EIEE6; FEB3;
                     FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI"
                     /coded_by="NM_001353951.2:300..6296"
                     /note="isoform 2 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS33316.1"
                     /db_xref="GeneID:6323"
                     /db_xref="HGNC:HGNC:10585"
                     /db_xref="MIM:182389"
ORIGIN      
        1 meqtvlvppg pdsfnfftre slaaierria eekaknpkpd kkdddengpk pnsdleagkn
       61 lpfiygdipp emvsepledl dpyyinkktf ivlnkgkaif rfsatsalyi ltpfnplrki
      121 aikilvhslf smlimctilt ncvfmtmsnp pdwtknveyt ftgiytfesl ikiiargfcl
      181 edftflrdpw nwldftvitf ayvtefvdlg nvsalrtfrv lralktisvi pglktivgal
      241 iqsvkklsdv miltvfclsv faliglqlfm gnlrnkciqw pptnasleeh sieknitvny
      301 ngtlinetvf efdwksyiqd sryhyflegf ldallcgnss dagqcpegym cvkagrnpny
      361 gytsfdtfsw aflslfrlmt qdfwenlyql tlraagktym iffvlviflg sfylinlila
      421 vvamayeeqn qatleeaeqk eaefqqmieq lkkqqeaaqq aatatasehs repsaagrls
      481 dssseaskls sksakerrnr rkkrkqkeqs ggeekdedef qksesedsir rkgfrfsieg
      541 nrltyekrys sphqsllsir gslfsprrns rtslfsfrgr akdvgsendf addehstfed
      601 nesrrdslfv prrhgerrns nlsqtsrssr mlavfpangk mhstvdcngv vslvggpsvp
      661 tspvgqllpe gtttetemrk rrsssfhvsm dfledpsqrq ramsiasilt ntveeleesr
      721 qkcppcwykf snifliwdcs pywlkvkhvv nlvvmdpfvd laiticivln tlfmamehyp
      781 mtdhfnnvlt vgnlvftgif taemflkiia mdpyyyfqeg wnifdgfivt lslvelglan
      841 veglsvlrsf rllrvfklak swptlnmlik iignsvgalg nltlvlaiiv fifavvgmql
      901 fgksykdcvc kiasdcqlpr whmndffhsf livfrvlcge wietmwdcme vagqamcltv
      961 fmmvmvignl vvlnlflall lssfsadnla atdddnemnn lqiavdrmhk gvayvkrkiy
     1021 efiqqsfirk qkildeikpl ddlnnkkdsc msnhtaeigk dldylkdvng ttsgigtgss
     1081 vekyiidesd ymsfinnpsl tvtvpiavge sdfenlnted fssesdlees keklnessss
     1141 segstvdiga pveeqpvvep eetlepeacf tegcvqrfkc cqinveegrg kqwwnlrrtc
     1201 frivehnwfe tfivfmills sgalafediy idqrktiktm leyadkvfty ifilemllkw
     1261 vaygyqtyft nawcwldfli vdvslvslta nalgyselga ikslrtlral rplralsrfe
     1321 gmrvvvnall gaipsimnvl lvclifwlif simgvnlfag kfyhcinttt gdrfdiedvn
     1381 nhtdclklie rnetarwknv kvnfdnvgfg ylsllqvatf kgwmdimyaa vdsrnvelqp
     1441 kyeeslymyl yfvifiifgs fftlnlfigv iidnfnqqkk kfggqdifmt eeqkkyynam
     1501 kklgskkpqk piprpgnkfq gmvfdfvtrq vfdisimili clnmvtmmve tddqseyvtt
     1561 ilsrinlvfi vlftgecvlk lislrhyyft igwnifdfvv vilsivgmfl aeliekyfvs
     1621 ptlfrvirla rigrilrlik gakgirtllf almmslpalf niglllflvm fiyaifgmsn
     1681 fayvkrevgi ddmfnfetfg nsmiclfqit tsagwdglla pilnskppdc dpnkvnpgss
     1741 vkgdcgnpsv gifffvsyii isflvvvnmy iavilenfsv ateesaepls eddfemfyev
     1801 wekfdpdatq fmefeklsqf aaalepplnl pqpnklqlia mdlpmvsgdr ihcldilfaf
     1861 tkrvlgesge mdalriqmee rfmasnpskv syqpitttlk rkqeevsavi iqrayrrhll
     1921 krtvkqasft ynknkikgga nllikedmii drinensite ktdltmstaa cppsydrvtk
     1981 pivekheqeg kdekakgk
//
LOCUS       NP_001243643             608 aa            linear   PRI 19-DEC-2022
DEFINITION  dynein axonemal assembly factor 3 isoform 1 [Homo sapiens].
ACCESSION   NP_001243643
VERSION     NP_001243643.1
DBSOURCE    REFSEQ: accession NM_001256714.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 608)
  AUTHORS   Guo Z, Chen W, Huang J, Wang L and Qian L.
  TITLE     Clinical and genetic analysis of patients with primary ciliary
            dyskinesia caused by novel DNAAF3 mutations
  JOURNAL   J Hum Genet 64 (8), 711-719 (2019)
   PUBMED   31186518
  REMARK    GeneRIF: as the first report on DNAAF3 mutations in PCD patients in
            China, our study not only expands the spectrum of DNAAF3 mutations
            but also further complements the detailed phenotype characteristics
            of these patients.
REFERENCE   2  (residues 1 to 608)
  AUTHORS   Blue E, Louie TL, Chong JX, Hebbring SJ, Barnes KC, Rafaels NM,
            Knowles MR, Gibson RL, Bamshad MJ and Emond MJ.
  CONSRTM   U.S. National Heart, Lung, and Blood Institute "Grand Opportunity"
            Exome Sequencing Project (LungGO)
  TITLE     Variation in Cilia Protein Genes and Progression of Lung Disease in
            Cystic Fibrosis
  JOURNAL   Ann Am Thorac Soc 15 (4), 440-448 (2018)
   PUBMED   29323929
  REMARK    GeneRIF: Genetic variants within DNAH6, DNAH14, and DNAAF3 are
            associated with variation in lung function among persons with
            cystic fibrosis.
REFERENCE   3  (residues 1 to 608)
  AUTHORS   Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst
            RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi
            T, Mussaffi H, Chung EM, Omran H and Mitchell DR.
  TITLE     Mutations in axonemal dynein assembly factor DNAAF3 cause primary
            ciliary dyskinesia
  JOURNAL   Nat Genet 44 (4), 381-S2 (2012)
   PUBMED   22387996
  REMARK    GeneRIF: study identified loss-of-function mutations in the human
            DNAAF3 gene in individuals from families with situs inversus and
            defects in the assembly of inner and outer dynein arm
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 608)
  AUTHORS   Meeks M, Walne A, Spiden S, Simpson H, Mussaffi-Georgy H, Hamam HD,
            Fehaid EL, Cheehab M, Al-Dabbagh M, Polak-Charcon S, Blau H, O'Rawe
            A, Mitchison HM, Gardiner RM and Chung E.
  TITLE     A locus for primary ciliary dyskinesia maps to chromosome 19q
  JOURNAL   J Med Genet 37 (4), 241-244 (2000)
   PUBMED   10745040
REFERENCE   5  (residues 1 to 608)
  AUTHORS   Zariwala,M.A., Knowles,M.R. and Leigh,M.W.
  TITLE     Primary Ciliary Dyskinesia
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB093464.1, AK093458.1,
            AK097388.1 and AW182162.1.
            
            Summary: The protein encoded by this gene is required for the
            assembly of axonemal inner and outer dynein arms and plays a role
            in assembling dynein complexes for transport into cilia. Defects in
            this gene are a cause of primary ciliary dyskinesia type 2 (CILD2).
            Several transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK093458.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..608
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..608
                     /product="dynein axonemal assembly factor 3 isoform 1"
                     /note="UPF0470 protein C19orf51"
                     /calculated_mol_wt=66438
     Region          63..190
                     /region_name="DUF4470"
                     /note="Domain of unknown function (DUF4470); pfam14737"
                     /db_xref="CDD:434170"
     Region          222..510
                     /region_name="DUF4471"
                     /note="Domain of unknown function (DUF4471); pfam14740"
                     /db_xref="CDD:434173"
     CDS             1..608
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /coded_by="NM_001256714.1:75..1901"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS58680.1"
                     /db_xref="GeneID:352909"
                     /db_xref="HGNC:HGNC:30492"
                     /db_xref="MIM:614566"
ORIGIN      
        1 mlplldsskr agtlgsgcgv prvhsaalsr eegasrdiwr ikvwarvmtt pagsgsgfgs
       61 vswwglspal dlqaerdatv dalpttmvpq pavilpgppv dpdsqadtvh snpeldvlll
      121 gsvdgrhllr tlsrakfwpr rrfnffvlen nleavarhml ifslaleepe kmglqerset
      181 flevwgnall rppvaafvra qadllahlvp epdrleeqlp wlslralkfr erdaleavfr
      241 fwaggekgpq afpmsrlwds rlrhylgsry darrgvsdwd lrmklhdrga qvihpqefrr
      301 wrdtgvafel rdssayhvpn rtlasgrlls yrgervaarg ywgdiatgpf vafgieadde
      361 sllrtsngqp vktageitqh nvtellrdva awgraratgg dleeqqhaeg spepgtpapt
      421 pesftvhflp lnsaqtlhhk scyngrfqll yvacgmvhll ipelgacvap ggnlivelar
      481 ylvdvrqeql qgfntrvrel aqaagfapqt garpsetfar fcksqesalg ntvpavepgt
      541 ppldilaqpl easnpalegl tqplqggtph cepcqlpses pgslsevlaq pqgalappnc
      601 esdsktgv
//
LOCUS       NP_001307707             372 aa            linear   PRI 25-DEC-2022
DEFINITION  secretory carrier-associated membrane protein 2 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001307707 XP_006720432
VERSION     NP_001307707.1
DBSOURCE    REFSEQ: accession NM_001320778.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 372)
  AUTHORS   Yue C, Xie S, Zhong J, Zhao H, Lin Z, Zhang L, Xu B and Luo Y.
  TITLE     SCAMP2/5 as diagnostic and prognostic markers for acute myeloid
            leukemia
  JOURNAL   Sci Rep 11 (1), 17012 (2021)
   PUBMED   34426610
  REMARK    GeneRIF: SCAMP2/5 as diagnostic and prognostic markers for acute
            myeloid leukemia.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 372)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 372)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 372)
  AUTHORS   Cornelis MC, Monda KL, Yu K, Paynter N, Azzato EM, Bennett SN,
            Berndt SI, Boerwinkle E, Chanock S, Chatterjee N, Couper D, Curhan
            G, Heiss G, Hu FB, Hunter DJ, Jacobs K, Jensen MK, Kraft P, Landi
            MT, Nettleton JA, Purdue MP, Rajaraman P, Rimm EB, Rose LM, Rothman
            N, Silverman D, Stolzenberg-Solomon R, Subar A, Yeager M, Chasman
            DI, van Dam RM and Caporaso NE.
  TITLE     Genome-wide meta-analysis identifies regions on 7p21 (AHR) and
            15q24 (CYP1A2) as determinants of habitual caffeine consumption
  JOURNAL   PLoS Genet 7 (4), e1002033 (2011)
   PUBMED   21490707
REFERENCE   5  (residues 1 to 372)
  AUTHORS   Fjorback AW, Muller HK, Haase J, Raarup MK and Wiborg O.
  TITLE     Modulation of the dopamine transporter by interaction with
            Secretory Carrier Membrane Protein 2
  JOURNAL   Biochem Biophys Res Commun 406 (2), 165-170 (2011)
   PUBMED   21295544
  REMARK    GeneRIF: this finding that SCAMP2 interacts with and regulates the
            subcellular distribution of both DAT and SERT suggests that
            interaction with SCAMP2 may constitute an important mechanism for
            coordinating cell surface expression of monoamine transporters.
REFERENCE   6  (residues 1 to 372)
  AUTHORS   Lin PJ, Williams WP, Luu Y, Molday RS, Orlowski J and Numata M.
  TITLE     Secretory carrier membrane proteins interact and regulate
            trafficking of the organellar (Na+,K+)/H+ exchanger NHE7
  JOURNAL   J Cell Sci 118 (Pt 9), 1885-1897 (2005)
   PUBMED   15840657
REFERENCE   7  (residues 1 to 372)
  AUTHORS   Liu L, Guo Z, Tieu Q, Castle A and Castle D.
  TITLE     Role of secretory carrier membrane protein SCAMP2 in granule
            exocytosis
  JOURNAL   Mol Biol Cell 13 (12), 4266-4278 (2002)
   PUBMED   12475951
REFERENCE   8  (residues 1 to 372)
  AUTHORS   Guo Z, Liu L, Cafiso D and Castle D.
  TITLE     Perturbation of a very late step of regulated exocytosis by a
            secretory carrier membrane protein (SCAMP2)-derived peptide
  JOURNAL   J Biol Chem 277 (38), 35357-35363 (2002)
   PUBMED   12124380
REFERENCE   9  (residues 1 to 372)
  AUTHORS   Singleton DR, Wu TT and Castle JD.
  TITLE     Three mammalian SCAMPs (secretory carrier membrane proteins) are
            highly related products of distinct genes having similar
            subcellular distributions
  JOURNAL   J Cell Sci 110 (Pt 17), 2099-2107 (1997)
   PUBMED   9378760
REFERENCE   10 (residues 1 to 372)
  AUTHORS   Wu TT and Castle JD.
  TITLE     Evidence for colocalization and interaction between 37 and 39 kDa
            isoforms of secretory carrier membrane proteins (SCAMPs)
  JOURNAL   J Cell Sci 110 (Pt 13), 1533-1541 (1997)
   PUBMED   9224770
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091230.23, CD300387.1,
            AK291884.1 and R59393.1.
            On Mar 5, 2016 this sequence version replaced XP_006720432.1.
            
            Summary: This gene product belongs to the SCAMP family of proteins
            which are secretory carrier membrane proteins. They function as
            carriers to the cell surface in post-golgi recycling pathways.
            Different family members are highly related products of distinct
            genes, and are usually expressed together. These findings suggest
            that the SCAMPs may function at the same site during vesicular
            transport rather than in separate pathways. Alternate splicing
            results in multiple transcript variants. [provided by RefSeq, Mar
            2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.169456.1,
                                           SRR1803615.349257.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..372
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     Protein         1..372
                     /product="secretory carrier-associated membrane protein 2
                     isoform 1"
                     /note="secretory carrier-associated membrane protein 2;
                     testis secretory sperm-binding protein Li 219p"
                     /calculated_mol_wt=41419
     Region          160..336
                     /region_name="SCAMP"
                     /note="SCAMP family; pfam04144"
                     /db_xref="CDD:427742"
     CDS             1..372
                     /gene="SCAMP2"
                     /coded_by="NM_001320778.2:111..1229"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="GeneID:10066"
                     /db_xref="HGNC:HGNC:10564"
                     /db_xref="MIM:606912"
ORIGIN      
        1 msafdtnpfa dpvdvnpfqd psvtqltnap qgglaefnpf setnaattvp vtqlpgssqp
       61 avlqpsvept qptpqlllrq askfppaqfl avselserqm llggesilrd symrklpkav
      121 vsaaqagllr qqeeldrkaa elerkerelq ntvanlhvrq nnwpplpswc pvkpcfyqdf
      181 steipadyqr ickmlyylwm lhsvtlflnl laclawfsgn sskgvdfgls ilwfliftpc
      241 aflcwyrpiy kafrsdnsfs ffvfffvffc qigiyiiqlv gipglgdsgw iaalstldnh
      301 slaisvimmv vagfftlcav lsvfllqrvh slyrrtgasf qqaqeefsqg ifssrtfhra
      361 assaaqgafq gn
//
LOCUS       NP_003512                126 aa            linear   PRI 28-DEC-2022
DEFINITION  histone H2B type 1-M [Homo sapiens].
ACCESSION   NP_003512
VERSION     NP_003512.1
DBSOURCE    REFSEQ: accession NM_003521.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 126)
  AUTHORS   Martins-de-Souza D, Guest PC, Mann DM, Roeber S, Rahmoune H, Bauder
            C, Kretzschmar H, Volk B, Baborie A and Bahn S.
  TITLE     Proteomic analysis identifies dysfunction in cellular transport,
            energy, and protein metabolism in different brain regions of
            atypical frontotemporal lobar degeneration
  JOURNAL   J Proteome Res 11 (4), 2533-2543 (2012)
   PUBMED   22360420
  REMARK    GeneRIF: A protein encoded by this locus was found to be
            differentially expressed in postmortem brains from patients with
            atypical frontotemporal lobar degeneration.
REFERENCE   2  (residues 1 to 126)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   3  (residues 1 to 126)
  AUTHORS   Buschow SI, van Balkom BW, Aalberts M, Heck AJ, Wauben M and
            Stoorvogel W.
  TITLE     MHC class II-associated proteins in B-cell exosomes and potential
            functional implications for exosome biogenesis
  JOURNAL   Immunol Cell Biol 88 (8), 851-856 (2010)
   PUBMED   20458337
REFERENCE   4  (residues 1 to 126)
  AUTHORS   Kim SC, Sprung R, Chen Y, Xu Y, Ball H, Pei J, Cheng T, Kho Y, Xiao
            H, Xiao L, Grishin NV, White M, Yang XJ and Zhao Y.
  TITLE     Substrate and functional diversity of lysine acetylation revealed
            by a proteomics survey
  JOURNAL   Mol Cell 23 (4), 607-618 (2006)
   PUBMED   16916647
REFERENCE   5  (residues 1 to 126)
  AUTHORS   Pavri R, Zhu B, Li G, Trojer P, Mandal S, Shilatifard A and
            Reinberg D.
  TITLE     Histone H2B monoubiquitination functions cooperatively with FACT to
            regulate elongation by RNA polymerase II
  JOURNAL   Cell 125 (4), 703-717 (2006)
   PUBMED   16713563
REFERENCE   6  (residues 1 to 126)
  AUTHORS   Marzluff WF, Gongidi P, Woods KR, Jin J and Maltais LJ.
  TITLE     The human and mouse replication-dependent histone genes
  JOURNAL   Genomics 80 (5), 487-498 (2002)
   PUBMED   12408966
REFERENCE   7  (residues 1 to 126)
  AUTHORS   Deng L, de la Fuente C, Fu P, Wang L, Donnelly R, Wade JD, Lambert
            P, Li H, Lee CG and Kashanchi F.
  TITLE     Acetylation of HIV-1 Tat by CBP/P300 increases transcription of
            integrated HIV-1 genome and enhances binding to core histones
  JOURNAL   Virology 277 (2), 278-295 (2000)
   PUBMED   11080476
REFERENCE   8  (residues 1 to 126)
  AUTHORS   Albig W, Trappe R, Kardalinou E, Eick S and Doenecke D.
  TITLE     The human H2A and H2B histone gene complement
  JOURNAL   Biol Chem 380 (1), 7-18 (1999)
   PUBMED   10064132
REFERENCE   9  (residues 1 to 126)
  AUTHORS   El Kharroubi A, Piras G, Zensen R and Martin MA.
  TITLE     Transcriptional activation of the integrated chromatin-associated
            human immunodeficiency virus type 1 promoter
  JOURNAL   Mol Cell Biol 18 (5), 2535-2544 (1998)
   PUBMED   9566873
REFERENCE   10 (residues 1 to 126)
  AUTHORS   Albig W and Doenecke D.
  TITLE     The human histone gene cluster at the D6S105 locus
  JOURNAL   Hum Genet 101 (3), 284-294 (1997)
   PUBMED   9439656
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049822.30.
            
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. Two molecules of each of the four core histones (H2A,
            H2B, H3, and H4) form an octamer, around which approximately 146 bp
            of DNA is wrapped in repeating units, called nucleosomes. The
            linker histone, H1, interacts with linker DNA between nucleosomes
            and functions in the compaction of chromatin into higher order
            structures. This gene is intronless and encodes a
            replication-dependent histone that is a member of the histone H2B
            family. Transcripts from this gene lack polyA tails but instead
            contain a palindromic termination element. This gene is found in
            the small histone gene cluster on chromosome 6p22-p21.3. [provided
            by RefSeq, Aug 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BM752802.1, BC067486.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match            :: ENST00000621112.2/
                                             ENSP00000477907.2
            RefSeq Select criteria        :: based on single protein-coding
                                             transcript
            replication-dependent histone :: PMID: 12408966
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..126
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     Protein         1..126
                     /product="histone H2B type 1-M"
                     /note="H2B histone family, member E; histone 1, H2bm;
                     histone H2B.e; histone cluster 1, H2bm; histone cluster 1
                     H2B family member m"
                     /calculated_mol_wt=13858
     Region          1..36
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99879.3)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylproline.
                     /evidence=ECO:0000250|UniProtKB:P23527; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            6
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16283522,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Region          12..125
                     /region_name="H2B"
                     /note="Histone H2B; cl23830"
                     /db_xref="CDD:355063"
     Site            12
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P10854; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            13
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16283522,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            15
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by STK4/MST1.
                     /evidence=ECO:0000269|PubMed:12757711; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            16
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16283522,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            17
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            21
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16283522,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            24
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            37
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by AMPK.
                     /evidence=ECO:0000250|UniProtKB:P10854; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            47
                     /site_type="methylation"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P62807; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            58
                     /site_type="methylation"
                     /note="N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P62807; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            80
                     /site_type="methylation"
                     /note="Dimethylated arginine.
                     /evidence=ECO:0000250|UniProtKB:Q96A08; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            86
                     /site_type="methylation"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q96A08; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            86
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q96A08; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            87
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q96A08; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            93
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q96A08; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            109
                     /site_type="methylation"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P62807; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            113
                     /site_type="glycosylation"
                     /note="O-linked (GlcNAc) serine.
                     /evidence=ECO:0000250|UniProtKB:P62807; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            116
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q00729; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     Site            117
                     /site_type="methylation"
                     /note="N6-methylated lysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q00729; propagated from
                     UniProtKB/Swiss-Prot (Q99879.3)"
     CDS             1..126
                     /gene="H2BC14"
                     /gene_synonym="dJ160A22.3; H2B/e; H2BFE; HIST1H2BM"
                     /coded_by="NM_003521.3:23..403"
                     /db_xref="CCDS:CCDS4629.1"
                     /db_xref="GeneID:8342"
                     /db_xref="HGNC:HGNC:4750"
                     /db_xref="MIM:602802"
ORIGIN      
        1 mpepvksapv pkkgskkain kaqkkdgkkr krsrkesysv yvykvlkqvh pdtgisskam
       61 gimnsfvndi feriageasr lahynkrsti tsreiqtavr lllpgelakh avsegtkavt
      121 kytssk
//
LOCUS       NP_001257882             406 aa            linear   PRI 28-DEC-2022
DEFINITION  mitochondrial dicarboxylate carrier isoform 3 [Homo sapiens].
ACCESSION   NP_001257882
VERSION     NP_001257882.1
DBSOURCE    REFSEQ: accession NM_001270953.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 406)
  AUTHORS   Zhou B, Mai Z, Ye Y, Song Y, Zhang M, Yang X, Xia W and Qiu X.
  TITLE     The role of PYCR1 in inhibiting 5-fluorouracil-induced ferroptosis
            and apoptosis through SLC25A10 in colorectal cancer
  JOURNAL   Hum Cell 35 (6), 1900-1911 (2022)
   PUBMED   36104652
  REMARK    GeneRIF: The role of PYCR1 in inhibiting 5-fluorouracil-induced
            ferroptosis and apoptosis through SLC25A10 in colorectal cancer.
REFERENCE   2  (residues 1 to 406)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 406)
  AUTHORS   Cai T, Hua B, Luo D, Xu L, Cheng Q, Yuan G, Yan Z, Sun N, Hua L and
            Lu C.
  TITLE     The circadian protein CLOCK regulates cell metabolism via the
            mitochondrial carrier SLC25A10
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1866 (8), 1310-1321 (2019)
   PUBMED   30943427
  REMARK    GeneRIF: identified a new protein-protein interaction mechanism in
            which CLOCK can directly regulate cell metabolism via the
            mitochondrial membrane transporter SLC25A10.
REFERENCE   4  (residues 1 to 406)
  AUTHORS   Hlouschek J, Ritter V, Wirsdorfer F, Klein D, Jendrossek V and
            Matschke J.
  TITLE     Targeting SLC25A10 alleviates improved antioxidant capacity and
            associated radioresistance of cancer cells induced by
            chronic-cycling hypoxia
  JOURNAL   Cancer Lett 439, 24-38 (2018)
   PUBMED   30205167
  REMARK    GeneRIF: Data show that targeting of mitochondrial dicarboxylate
            carrier (SLC25A10) was effective in overcoming chronic-cycling
            hypoxia-induced enhanced death resistance in vitro and in vivo by
            disturbing increased antioxidant capacity.
REFERENCE   5  (residues 1 to 406)
  AUTHORS   Punzi G, Porcelli V, Ruggiu M, Hossain MF, Menga A, Scarcia P,
            Castegna A, Gorgoglione R, Pierri CL, Laera L, Lasorsa FM, Paradies
            E, Pisano I, Marobbio CMT, Lamantea E, Ghezzi D, Tiranti V,
            Giannattasio S, Donati MA, Guerrini R, Palmieri L, Palmieri F and
            De Grassi A.
  TITLE     SLC25A10 biallelic mutations in intractable epileptic
            encephalopathy with complex I deficiency
  JOURNAL   Hum Mol Genet 27 (3), 499-504 (2018)
   PUBMED   29211846
  REMARK    GeneRIF: Study report the first recessive mutations of SLC25A10
            associated to an inherited severe mitochondrial neurodegenerative
            disorder. We propose that SLC25A10 loss-of-function causes
            pathological disarrangements in respiratory-demanding conditions
            and oxidative stress vulnerability.
REFERENCE   6  (residues 1 to 406)
  AUTHORS   Damrauer SM, Studer P, da Silva CG, Longo CR, Ramsey HE, Csizmadia
            E, Shrikhande GV, Scali ST, Libermann TA, Bhasin MK and Ferran C.
  TITLE     A20 modulates lipid metabolism and energy production to promote
            liver regeneration
  JOURNAL   PLoS One 6 (3), e17715 (2011)
   PUBMED   21437236
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 406)
  AUTHORS   Huypens P, Pillai R, Sheinin T, Schaefer S, Huang M, Odegaard ML,
            Ronnebaum SM, Wettig SD and Joseph JW.
  TITLE     The dicarboxylate carrier plays a role in mitochondrial malate
            transport and in the regulation of glucose-stimulated insulin
            secretion from rat pancreatic beta cells
  JOURNAL   Diabetologia 54 (1), 135-145 (2011)
   PUBMED   20949348
REFERENCE   8  (residues 1 to 406)
  AUTHORS   Mizuarai S, Miki S, Araki H, Takahashi K and Kotani H.
  TITLE     Identification of dicarboxylate carrier Slc25a10 as malate
            transporter in de novo fatty acid synthesis
  JOURNAL   J Biol Chem 280 (37), 32434-32441 (2005)
   PUBMED   16027120
  REMARK    GeneRIF: Slc25a10 plays an important role in supplying malate for
            citrate transport required for fatty acid synthesis and its
            inhibition might effectively reduce lipid accumulation in adipose
            tissues
REFERENCE   9  (residues 1 to 406)
  AUTHORS   Fiermonte G, Dolce V, Arrigoni R, Runswick MJ, Walker JE and
            Palmieri F.
  TITLE     Organization and sequence of the gene for the human mitochondrial
            dicarboxylate carrier: evolution of the carrier family
  JOURNAL   Biochem J 344 Pt 3 (Pt 3), 953-960 (1999)
   PUBMED   10585886
REFERENCE   10 (residues 1 to 406)
  AUTHORS   Pannone E, Fiermonte G, Dolce V, Rocchi M and Palmieri F.
  TITLE     Assignment of the human dicarboxylate carrier gene (DIC) to
            chromosome 17 band 17q25.3
  JOURNAL   Cytogenet Cell Genet 83 (3-4), 238-239 (1998)
   PUBMED   10072589
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AI081980.1, BM561945.1,
            AC139530.3, BC007355.2 and HY259124.1.
            
            Summary: This gene encodes a member of a family of proteins that
            translocate small metabolites across the mitochondrial membrane.
            The encoded protein exchanges dicarboxylates, such as malate and
            succinate, for phosphate, sulfate, and other small molecules,
            thereby providing substrates for metabolic processes including the
            Krebs cycle and fatty acid synthesis. Alternatively spliced
            transcript variants encoding multiple isoforms have been observed
            for this gene. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (3) uses an alternate splice site
            in the coding region, which results in a frameshift, compared to
            variant 1. The encoded isoform (3) has a distinct C-terminus and is
            longer than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: KU178000.1, BM561945.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 10585886; reported by
                                                  MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..406
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..406
                     /product="mitochondrial dicarboxylate carrier isoform 3"
                     /note="dicarboxylate ion carrier; mitochondrial
                     dicarboxylate carrier; solute carrier family 25
                     (mitochondrial carrier; dicarboxylate transporter), member
                     10"
                     /calculated_mol_wt=43480
     Region          13..93
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          95..179
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     CDS             1..406
                     /gene="SLC25A10"
                     /gene_synonym="DIC; MTDPS19"
                     /coded_by="NM_001270953.2:144..1364"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS74176.1"
                     /db_xref="GeneID:1468"
                     /db_xref="HGNC:HGNC:10980"
                     /db_xref="MIM:606794"
ORIGIN      
        1 maaearvsrw yfgglascga accthpldll kvhlqtqqev klrmtgmalr vvrtdgilal
       61 ysglsaslcr qmtysltrfa iyetvrdrva kgsqgplpfh ekvllgsvsg laggfvgtpa
      121 dlvnvrmqnd vklpqgqrrn yahaldglyr vareeglrrl fsgatmassr galvtvgqly
      181 crwmchvpvp apgcaedspd elqggvsgrf plrrgdsear asgllqgprp swhpphpphr
      241 ahfcvsgtat qklwhqsail tsrgngwaar pdtlgsskes qaqhlllgpr ppwpwppvlr
      301 srpllsphll aelllasspl scscttpala trlsrlgtaw pcpspagsss geqglpeadf
      361 spllgqgrgi ipascprcpk qhlpalsied lggrvwvqpg ccspkc
//
LOCUS       NP_001381137             373 aa            linear   PRI 31-DEC-2022
DEFINITION  E3 ubiquitin-protein ligase RNF34 isoform 1 [Homo sapiens].
ACCESSION   NP_001381137 XP_024304958
VERSION     NP_001381137.1
DBSOURCE    REFSEQ: accession NM_001394208.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 373)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 373)
  AUTHORS   He X, Zhu Y, Zhang Y, Geng Y, Gong J, Geng J, Zhang P, Zhang X, Liu
            N, Peng Y, Wang C, Wang Y, Liu X, Wan L, Gong F, Wei C and Zhong H.
  TITLE     RNF34 functions in immunity and selective mitophagy by targeting
            MAVS for autophagic degradation
  JOURNAL   EMBO J 38 (14), e100978 (2019)
   PUBMED   31304625
  REMARK    GeneRIF: Study identified RNF34 as an important regulator of
            immunity and mitophagy by inducing the autophagic degradation of
            MAVS aggregates. RNF34 promoted the K63 to K27/K29 ubiquitination
            transition of MAVS and degraded activated MAVS oligomers. The loss
            of RNF34 led to defects in mitophagy. The RNF34-mediated
            mitochondrial quality control mechanism links the innate immune
            response, mitochondrial homeostasis, and infection.
REFERENCE   3  (residues 1 to 373)
  AUTHORS   Zhang,R., Zhao,J., Song,Y., Wang,X., Wang,L., Xu,J., Song,C. and
            Liu,F.
  TITLE     The E3 ligase RNF34 is a novel negative regulator of the NOD1
            pathway
  JOURNAL   Cell Physiol Biochem 33 (6), 1954-1962 (2014)
   PUBMED   25012219
  REMARK    GeneRIF: Data indicate that E3 ligase RNF34 is associated with
            nucleotide-binding oligomerization domain-containing protein 1
            (NOD1).
REFERENCE   4  (residues 1 to 373)
  AUTHORS   Wei P, Pan D, Mao C and Wang YX.
  TITLE     RNF34 is a cold-regulated E3 ubiquitin ligase for PGC-1alpha and
            modulates brown fat cell metabolism
  JOURNAL   Mol Cell Biol 32 (2), 266-275 (2012)
   PUBMED   22064484
REFERENCE   5  (residues 1 to 373)
  AUTHORS   Lin ML, Lu YC, Su HL, Lin HT, Lee CC, Kang SE, Lai TC, Chung JG and
            Chen SS.
  TITLE     Destabilization of CARP mRNAs by aloe-emodin contributes to
            caspase-8-mediated p53-independent apoptosis of human carcinoma
            cells
  JOURNAL   J Cell Biochem 112 (4), 1176-1191 (2011)
   PUBMED   21308745
  REMARK    GeneRIF: Data indicate AE induces caspase-8-mediated activation of
            mitochondrial death pathways by decreasing the stability of CARP
            mRNAs in a p53-independent manner.
REFERENCE   6  (residues 1 to 373)
  AUTHORS   Yang W, Rozan LM, McDonald ER 3rd, Navaraj A, Liu JJ, Matthew EM,
            Wang W, Dicker DT and El-Deiry WS.
  TITLE     CARPs are ubiquitin ligases that promote MDM2-independent p53 and
            phospho-p53ser20 degradation
  JOURNAL   J Biol Chem 282 (5), 3273-3281 (2007)
   PUBMED   17121812
REFERENCE   7  (residues 1 to 373)
  AUTHORS   Konishi T, Sasaki S, Watanabe T, Kitayama J and Nagawa H.
  TITLE     Overexpression of hRFI (human ring finger homologous to inhibitor
            of apoptosis protein type) inhibits death receptor-mediated
            apoptosis in colorectal cancer cells
  JOURNAL   Mol Cancer Ther 4 (5), 743-750 (2005)
   PUBMED   15897238
REFERENCE   8  (residues 1 to 373)
  AUTHORS   Sasaki S, Watanabe T, Konishi T, Kitayama J and Nagawa H.
  TITLE     Effects of expression of hRFI on adenoma formation and tumor
            progression in colorectal adenoma-carcinoma sequence
  JOURNAL   J Exp Clin Cancer Res 23 (3), 507-512 (2004)
   PUBMED   15595643
  REMARK    GeneRIF: hRFI may act as an oncogenic molecule affecting the
            apoptotic pathway
REFERENCE   9  (residues 1 to 373)
  AUTHORS   McDonald ER 3rd and El-Deiry WS.
  TITLE     Suppression of caspase-8- and -10-associated RING proteins results
            in sensitization to death ligands and inhibition of tumor cell
            growth
  JOURNAL   Proc Natl Acad Sci U S A 101 (16), 6170-6175 (2004)
   PUBMED   15069192
REFERENCE   10 (residues 1 to 373)
  AUTHORS   Sasaki S, Nakamura T, Arakawa H, Mori M, Watanabe T, Nagawa H and
            Croce CM.
  TITLE     Isolation and characterization of a novel gene, hRFI,
            preferentially expressed in esophageal cancer
  JOURNAL   Oncogene 21 (32), 5024-5030 (2002)
   PUBMED   12118383
  REMARK    GeneRIF: a novel gene, hRFI, preferentially expressed in esophageal
            cancer (hRFI)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC048337.28.
            On Apr 8, 2021 this sequence version replaced XP_024304958.1.
            
            Summary: The protein encoded by this gene contains a RINF finger, a
            motif known to be involved in protein-protein and protein-DNA
            interactions. This protein interacts with DNAJA3/hTid-1, which is a
            DnaJ protein reported to function as a modulator of apoptosis.
            Overexpression of this gene in Hela cells was shown to confer the
            resistance to TNF-alpha induced apoptosis, suggesting an
            anti-apoptotic function of this protein. This protein can be
            cleaved by caspase-3 during the induction of apoptosis. This
            protein also targets p53 and phospho-p53 for degradation.
            Alternatively splicing results in multiple transcript variants
            encoding distinct isoforms. [provided by RefSeq, Feb 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.39610.1,
                                           SRR14038195.1924062.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142586, SAMEA2149004
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..373
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     Protein         1..373
                     /product="E3 ubiquitin-protein ligase RNF34 isoform 1"
                     /EC_number="2.3.2.27"
                     /note="RING finger protein RIFF; FYVE-RING finger protein
                     MOMO; caspases-8 and -10-associated RING finger protein 1;
                     E3 ubiquitin-protein ligase RNF34; caspase regulator
                     CARP1; human RING finger homologous to inhibitor of
                     apoptosis protein; ring finger protein 34, E3 ubiquitin
                     protein ligase; RING-type E3 ubiquitin transferase RNF34"
                     /calculated_mol_wt=41666
     Region          60..106
                     /region_name="FYVE_CARP1"
                     /note="FYVE-like domain found in caspase regulator CARP1
                     and similar proteins; cd15769"
                     /db_xref="CDD:277308"
     Region          320..373
                     /region_name="RING-HC_CARP1"
                     /note="RING finger, HC subclass, found in caspases-8 and
                     -10-associated RING finger protein 1 (CARP1) and similar
                     proteins; cd16706"
                     /db_xref="CDD:438366"
     CDS             1..373
                     /gene="RNF34"
                     /gene_synonym="CARP-1; CARP1; hRFI; RFI; RIF; RIFF"
                     /coded_by="NM_001394208.1:216..1337"
                     /note="isoform 1 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS9221.1"
                     /db_xref="GeneID:80196"
                     /db_xref="HGNC:HGNC:17297"
                     /db_xref="MIM:608299"
ORIGIN      
        1 mrkagatsmw asccgllnev mgtgavrgqq safagatgpf rftpnpefst yppaategpn
       61 ivckacglsf svfrkkhvcc dckkdfcsvc svlqenlrrc stchllqeta fqrpqlmrlk
      121 vkdlrqylil rnipidtcre kedlvdlvlc hhglgseddm dtsslnssrs qtssfftrsf
      181 fsnytapsat mssfqgelmd gdqtsrsgvp aqvqseitsa nteddddddd eddddeeena
      241 edrnpglske rvraslsdls slddvegmsv rqlkeilarn fvnysgccek welvekvnrl
      301 ykeneenqks ygerlqlqde eddslcricm davidcvlle cghmvtctkc gkrmsecpic
      361 rqyvvravhv fks
//
LOCUS       XP_047280895             814 aa            linear   PRI 20-MAR-2023
DEFINITION  protein enabled homolog isoform X20 [Homo sapiens].
ACCESSION   XP_047280895
VERSION     XP_047280895.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424939.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..814
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..814
                     /product="protein enabled homolog isoform X20"
                     /calculated_mol_wt=89405
     Region          267..374
                     /region_name="EVH1_Ena_VASP-like"
                     /note="Enabled/VASP family EVH1 domain; cd01207"
                     /db_xref="CDD:269918"
     Site            order(278,285,331,333,339,341,343)
                     /site_type="other"
                     /note="proline-rich peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269918"
     Region          629..655
                     /region_name="WH2_hVASP-like"
                     /note="Wiskott-Aldrich syndrome protein (WASP)-homology
                     domain 2 (WH2) of human Vasodilator-stimulated
                     phosphoprotein and related proteins; cd22185"
                     /db_xref="CDD:409225"
     Site            order(636..637,639..640,643,645..649)
                     /site_type="other"
                     /note="actin-binding motif [polypeptide binding]"
                     /db_xref="CDD:409225"
     Region          645..648
                     /region_name="actin-binding sequence"
                     /note="actin-binding sequence [structural motif]"
                     /db_xref="CDD:409225"
     Region          775..810
                     /region_name="VASP_tetra"
                     /note="VASP tetramerisation domain; pfam08776"
                     /db_xref="CDD:430211"
     CDS             1..814
                     /gene="ENAH"
                     /gene_synonym="ENA; MENA; NDPP1"
                     /coded_by="XM_047424939.1:127..2571"
                     /db_xref="GeneID:55740"
                     /db_xref="HGNC:HGNC:18271"
                     /db_xref="MIM:609061"
ORIGIN      
        1 mppdslipvl rpqqgglstr parghpaasr pgvswpgpvp shasklptpv ptglaprrsr
       61 rlglrtvavg easelpkplg sgrrrgggrr srtttgeepr pttgrrcwag gggggppesq
      121 rgagggvgrq qraslrrrrr rarslpasls avrrgpgrrr ggvrpaprlp fpplpphrpl
      181 apggrrgggr rlrvppprap pppgflaaip tllprlqqlp vahglgggaa saglwsggra
      241 rgpgghpseg grgssgrrsr ttrseqsicq araavmvydd ankkwvpagg stgfsrvhiy
      301 hhtgnntfrv vgrkiqdhqv vincaipkgl kynqatqtfh qwrdarqvyg lnfgskedan
      361 vfasammhal evlnsqetaq skvtatqdst nlrcifcgpt lprqnsqlpa qvqngpsqee
      421 leiqrrqlqe qqrqkelere rlerermere rlererlere rlererleqe qlererqere
      481 rqerlerqer lerqerlerq erldrerqer qererlerle rerqererqe qlereqlewe
      541 rerrissagi vlgplapppp pplppgpaqa svalppppgp ppppplpstg pppppppppl
      601 pnqvpppppp ppapplpasg fflasmsedn rpltglaaai agaklrkvsr medtsfpsgg
      661 naigvnsass ktdtgrgngp lplggsglme emsallarrr riaekgstie teqkedkged
      721 sepvtskass tstpeptrkp wertntmngs kspvisrpks tplsqpsang vqtegldydr
      781 lkqdildemr keltklkeel idairqelsk snta
//
LOCUS       XP_047281440             384 aa            linear   PRI 20-MAR-2023
DEFINITION  mitogen-activated protein kinase 8 isoform X2 [Homo sapiens].
ACCESSION   XP_047281440
VERSION     XP_047281440.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425484.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..384
                     /product="mitogen-activated protein kinase 8 isoform X2"
                     /calculated_mol_wt=43891
     Region          25..360
                     /region_name="STKc_JNK"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     c-Jun N-terminal Kinase; cd07850"
                     /db_xref="CDD:270840"
     Site            order(32..38,40,53,55,72,86,108..114,116..117,151,153,
                     155..156,158,168..169,172,183,185..188,190,227)
                     /site_type="active"
                     /db_xref="CDD:270840"
     Site            order(32..38,40,53,55,86,108..114,158,168)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270840"
     Site            order(72,116,151,153,172,183,185..188,190,227)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270840"
     Site            order(112,118,127,130,159..163,323..324,326,329)
                     /site_type="other"
                     /note="KIM docking site [polypeptide binding]"
                     /db_xref="CDD:270840"
     Site            order(168..178,182..190)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270840"
     CDS             1..384
                     /gene="MAPK8"
                     /gene_synonym="JNK; JNK-46; JNK1; JNK1A2; JNK21B1/2;
                     PRKM8; SAPK1; SAPK1c"
                     /coded_by="XM_047425484.1:309..1463"
                     /db_xref="GeneID:5599"
                     /db_xref="HGNC:HGNC:6881"
                     /db_xref="MIM:601158"
ORIGIN      
        1 msrskrdnnf ysveigdstf tvlkryqnlk pigsgaqgiv caaydailer nvaikklsrp
       61 fqnqthakra yrelvlmkcv nhkniiglln vftpqkslee fqdvyivmel mdanlcqviq
      121 meldhermsy llyqmlcgik hlhsagiihr dlkpsnivvk sdctlkildf glartagtsf
      181 mmtpyvvtry yrapevilgm gykenvdiws vgcimgemik ggvlfpgtdh idqwnkvieq
      241 lgtpcpefmk klqptvrtyv enrpkyagys feklfpdvlf padsehnklk asqardllsk
      301 mlvidaskri svdealqhpy invwydpsea eapppkipdk qlderehtie ewkeliykev
      361 mdleertkng virgqpspla qvqq
//
LOCUS       XP_011536506             875 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G-protein coupled receptor D1 isoform X1 [Homo sapiens].
ACCESSION   XP_011536506
VERSION     XP_011536506.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011538204.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..875
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..875
                     /product="adhesion G-protein coupled receptor D1 isoform
                     X1"
                     /calculated_mol_wt=96412
     Region          <170..273
                     /region_name="Laminin_G_3"
                     /note="Concanavalin A-like lectin/glucanases superfamily;
                     pfam13385"
                     /db_xref="CDD:433165"
     Region          540..587
                     /region_name="GPS"
                     /note="G-protein-coupled receptor proteolytic site domain;
                     smart00303"
                     /db_xref="CDD:197639"
     Region          595..845
                     /region_name="7tm_GPCRs"
                     /note="seven-transmembrane G protein-coupled receptor
                     superfamily; cl28897"
                     /db_xref="CDD:452889"
     Region          598..622
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:410628"
     Region          634..655
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:410628"
     Region          665..687
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:410628"
     Region          706..722
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:410628"
     Region          741..764
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:410628"
     Region          791..813
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:410628"
     Region          817..842
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:410628"
     CDS             1..875
                     /gene="ADGRD1"
                     /gene_synonym="GPR133; PGR25"
                     /coded_by="XM_011538204.2:560..3187"
                     /db_xref="GeneID:283383"
                     /db_xref="HGNC:HGNC:19893"
                     /db_xref="MIM:613639"
ORIGIN      
        1 mekllrlccw yswlllfyyn fqvrgvysrs qdhpgfqvla sashywplen vdgihelqdt
       61 tgasrthklt vlpsrnatfv ysndsaysnl satvdivegk vnkgiylkee kgvtllyygr
      121 ynssciskpe qcgpegvtfs ffwktqgeqs rpipsayggq visngfkvcs sggrgsvely
      181 trdnsmtwea sfsppgpywt hvlftwkske glkvyvngtl stsdpsgkvs rdygesnvnl
      241 vigseqdqak cyengafdef iiweraltpd eiamyftaai gkhallsstl pslfmtstas
      301 pvmptdayhp iitnlteerk tfqspgvils ylqnvslslp skslseqtal nltktflkav
      361 geilllpgwi alsedsavvl slidtidtvm ghvssnlhgs tpqvtvegss amaefsvaki
      421 lpktvnsshy rfpahgqsfi qipheafhrh awstvvglly hsmhyylnni wpahtkiaea
      481 mhhqdcllfa tshlislevs ppptlsqnls gsplitvhlk hrltrkqhse atnssnrvfv
      541 ycafldfssg egvwsnhgca ltrgnltysv crcthltnfa ilmqvvplel arghqvalss
      601 isyvgcslsv lclvatlvtf avlssvstir nqryhihanl sfavlvaqvl llisfrlepg
      661 ttpcqvmavl lhyfflsafa wmlveglhly smvikvfgse dskhryyygm gwgfpllici
      721 islsfamdsy gtsnncwlsl asgaiwafva palfvivvni giliavtrvi sqisadnyki
      781 hgdpsafklt akavavllpi lgtswvfgvl avngcavvfq ymfatlnslq glfiflfhcl
      841 lnsemngtrp gmastklspw dksshsahrv dlsav
//
LOCUS       XP_047294776             406 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 793 isoform X1 [Homo sapiens].
ACCESSION   XP_047294776
VERSION     XP_047294776.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438820.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..406
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..406
                     /product="zinc finger protein 793 isoform X1"
                     /calculated_mol_wt=46796
     Region          8..68
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          190..221
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <225..385
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          229..249
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(234,236,238,240..241,244..245,248,262,264,268..269,
                     272..273,276,290,292,294,296..297,300..301,304)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          257..277
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          285..305
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          313..333
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(318,320,322,324..325,328..329,332,346,348,352..353,
                     356..357,360,374,376,378,380..381,384..385,388)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          341..361
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          369..389
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..406
                     /gene="ZNF793"
                     /coded_by="XM_047438820.1:406..1626"
                     /db_xref="GeneID:390927"
                     /db_xref="HGNC:HGNC:33115"
ORIGIN      
        1 mieyqipvsf kdvvvgftqe ewhrlspaqr alyrdvmlet ysnlvsvgye gtkpdvilrl
       61 eqeeapwige aacpgchcwe diwrvniqrk rrqdmllrpg aaiskktlpk eksceynkfg
      121 kisllstdlf ssiqspsnwn pcgknlnhnl dligfkrnca kkqdecyayg kllqrinhgr
      181 rpngekprgc shcekaftqn palmykpavs dsllykrkrv pptekphvcs ecgkafcyks
      241 efirhqrsht gekpygctdc gkafshkstl ikhqrihtgv rpfecffcgk aftqkshrte
      301 hqrthtgerp fvcsecgksf geksylnvhr kmhtgerpyr crecgksfsq ksclnkhwrt
      361 htgekpygcn ecgkafyqkp nlsrhqkiha rknayrnenl iivgnt
//
LOCUS       XP_047295021             585 aa            linear   PRI 20-MAR-2023
DEFINITION  BTB/POZ domain-containing protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047295021
VERSION     XP_047295021.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439065.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..585
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..585
                     /product="BTB/POZ domain-containing protein 2 isoform X1"
                     /calculated_mol_wt=62771
     Region          95..221
                     /region_name="BTB_POZ_BTBD1_2"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in BTB/POZ
                     domain-containing proteins, BTBD1 and BTBD2; cd18281"
                     /db_xref="CDD:349590"
     Region          288..382
                     /region_name="BACK"
                     /note="BACK (BTB and C-terminal Kelch) domain; cl28903"
                     /db_xref="CDD:452892"
     Region          435..584
                     /region_name="PHR"
                     /note="PHR domain; pfam08005"
                     /db_xref="CDD:429783"
     CDS             1..585
                     /gene="BTBD2"
                     /coded_by="XM_047439065.1:12..1769"
                     /db_xref="GeneID:55643"
                     /db_xref="HGNC:HGNC:15504"
                     /db_xref="MIM:608531"
ORIGIN      
        1 maaggsggra scppgvgvgp gtggspgpsa naaatpapgn aaaaaaaaaa aaaapgptpp
       61 appgpgtdaq aagaeraeea agpgaaalqr eaaynwqask ptvqerfafl fnnevlcdvh
      121 flvgkglssq ripahrfvla vgsavfdamf nggmattste ielpdvepaa flallkflys
      181 devqigpetv mttlytakky avpaleahcv eflkknlrad nafmlltqag vqwhdlsslq
      241 ppppafkrfs clslhsswdy rpppprlakk kekkkpertf slslrkcqar lfdepqlasl
      301 clenidknta daitaegftd idldtlvavl erdtlgirev rlfnavvrws eaecqrqqlq
      361 vtpenrrkvl gkalglirfp lmtieefaag paqsgilvdr evvslflhft vnpkprvefi
      421 drprcclrgk ecsinrfqqv esrwgysgts drirfsvnkr ifvvgfglyg sihgptdyqv
      481 niqiihtdsn tvlgqndtgf scdgsastfr vmfkepvevl pnvnytacat lkgpdshygt
      541 kglrkvthes pttgaktcft fcyaagnnng tsvedgqipe vifyt
//
LOCUS       XP_047295600             147 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 160 isoform X5 [Homo sapiens].
ACCESSION   XP_047295600
VERSION     XP_047295600.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439644.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..147
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..147
                     /product="zinc finger protein 160 isoform X5"
                     /calculated_mol_wt=16981
     Region          8..68
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     CDS             1..147
                     /gene="ZNF160"
                     /gene_synonym="F11; HKr18; HZF5; KR18"
                     /coded_by="XM_047439644.1:405..848"
                     /db_xref="GeneID:90338"
                     /db_xref="HGNC:HGNC:12948"
                     /db_xref="MIM:600398"
ORIGIN      
        1 maltqvrltf rdvaiefsqe ewkcldpaqr ilyrdvmlen ywnlvslglc hfdmniisml
       61 eegkepwtvk scvkiarkpr tpecvkgvvt dllrrwkhwl lllgiccpkp hgrvssrlrl
      121 srslghffhs afatfmgvcd krvgsif
//
LOCUS       XP_011516667             558 aa            linear   PRI 20-MAR-2023
DEFINITION  Fanconi anemia group C protein isoform X1 [Homo sapiens].
ACCESSION   XP_011516667
VERSION     XP_011516667.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011518365.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..558
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..558
                     /product="Fanconi anemia group C protein isoform X1"
                     /calculated_mol_wt=63298
     Region          10..555
                     /region_name="Fanconi_C"
                     /note="Fanconi anaemia group C protein; pfam02106"
                     /db_xref="CDD:426603"
     CDS             1..558
                     /gene="FANCC"
                     /gene_synonym="FA3; FAC; FACC"
                     /coded_by="XM_011518365.4:3343..5019"
                     /db_xref="GeneID:2176"
                     /db_xref="HGNC:HGNC:3584"
                     /db_xref="MIM:613899"
ORIGIN      
        1 maqdsvdlsc dyqfwmqkls vwdqastlet qqdtclhvaq fqeflrkmye alkemdsntv
       61 ierfptigql lakacwnpfi laydesqkil iwclcclink epqnsgqskl nswiqgvlsh
      121 ilsalrfdke valftqglgy apidyypgll knmvlslase lrenhlngfn tqrrmaperv
      181 aslsrvcvpl itltdvdplv eallichgre pqeilqpeff eavneaillk kislpmsavv
      241 clwlrhlpsl ekamlhlfek lissernclr riecfikdss lpqaachpai frvvdemfrc
      301 alletdgale iiatiqvftq cfvealekas kqlrfalkty fpytspslam vllqdpqdip
      361 rghwlqtlkh isellreave dqthgscggp feswflfihf ggwaemvaeq llmsaaeppt
      421 allwllafyy gprdgrqqra qtmvqvkavl ghllamsrss slsaqdlqtv agqgtdtdlr
      481 apaqqlirhl llnfllwapg ghtiawdvit lmahtaeith eiigfldqtl yrwnrlgies
      541 prseklarel lkelrtqv
//
LOCUS       XP_047298501             455 aa            linear   PRI 20-MAR-2023
DEFINITION  putative GTP-binding protein 6 isoform X2 [Homo sapiens].
ACCESSION   XP_047298501
VERSION     XP_047298501.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442545.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 20% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..455
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..455
                     /product="putative GTP-binding protein 6 isoform X2"
                     /calculated_mol_wt=50018
     Region          6..452
                     /region_name="HflX"
                     /note="50S ribosomal subunit-associated GTPase HflX
                     [Translation, ribosomal structure and biogenesis];
                     COG2262"
                     /db_xref="CDD:225171"
     CDS             1..455
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /coded_by="XM_047442545.1:568..1935"
                     /db_xref="GeneID:8225"
                     /db_xref="HGNC:HGNC:30189"
                     /db_xref="MIM:300124"
ORIGIN      
        1 mvvstktpdr klifgkgnfe hltekirgsp ditcvflnve rmaaptkkel eaawgvevfd
       61 rftvvlhifr cnartkearl qvalaemplh rsnlkrdvah lyrgvgsryi mgsgesfmql
      121 qqrllrekea kirkaldrlr kkrhllrrqr trrefpvisv vgytncgeha prggafrglr
      181 vtgedspggg qgvpvvsvvp ydscgehvpr rggshgrrvg ytsccesspr rrvscglcvg
      241 yssqgkttli kaltgdaaiq prdqlfatld vtahagtlps rmtvlyvdti gflsqlphgl
      301 iesfsatled vahsdlilhv rdvshpeael qkcsvlstlr glqlpaplld smvevhnkvd
      361 lvpgysptep nvvpvsalrg hglqelkael daavlkatgr qiltlrvrla gaqlswlyke
      421 atvqevdvip edgaadvrvi isnsaygkfr klfpg
//
LOCUS       XP_054180938             641 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-binding cassette sub-family G member 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054180938
VERSION     XP_054180938.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324963.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..641
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..641
                     /product="ATP-binding cassette sub-family G member 1
                     isoform X2"
                     /calculated_mol_wt=70746
     CDS             1..641
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /coded_by="XM_054324963.1:75..2000"
                     /db_xref="GeneID:9619"
                     /db_xref="HGNC:HGNC:73"
                     /db_xref="MIM:603076"
ORIGIN      
        1 mrislprape rdggvsassl ldtvtnassy saemtepksv cvsvdevvss nmeatetdll
       61 nghlkkvdnn lteaqrfssl prraavnief rdlsysvpeg pwwrkkgykt llkgisgkfn
      121 sgelvaimgp sgagkstlmn ilagyretgm kgavlinglp rdlrcfrkvs cyimqddmll
      181 phltvqeamm vsahlklqek degrremvke iltalgllsc antrtgslsg gqrkrlaial
      241 elvnnppvmf fdeptsglds ascfqvvslm kglaqggrsi ictihqpsak lfelfdqlyv
      301 lsqgqcvyrg kvcnlvpylr dlglncptyh npadfvmeva sgeygdqnsr lvravregmc
      361 dsdhkrdlgg daevnpflwh rpseevkqtk rlkglrkdss smegchsfsa scltqfcilf
      421 krtflsimrd svlthlrits higiglligl lylgigneak kvlsnsgflf fsmlflmfaa
      481 lmptvltfpl emgvflrehl nywyslkayy laktmadvpf qimfpvaycs ivywmtsqps
      541 davrfvlfaa lgtmtslvaq slglligaas tslqvpaqea lsghfrgpsd shpgapvlgv
      601 lrqlrhhphv ptvdvlhllc qvwvrrghpl hlwlrpgrsa l
//
LOCUS       XP_054217048             524 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase 3 isoform X3 [Homo sapiens].
ACCESSION   XP_054217048
VERSION     XP_054217048.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361073.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..524
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..524
                     /product="serine/threonine-protein kinase 3 isoform X3"
                     /calculated_mol_wt=59680
     CDS             1..524
                     /gene="STK3"
                     /gene_synonym="KRS1; MST2"
                     /coded_by="XM_054361073.1:1802..3376"
                     /db_xref="GeneID:6788"
                     /db_xref="HGNC:HGNC:11406"
                     /db_xref="MIM:605030"
ORIGIN      
        1 mcllrprqpa kfqngvwatp afwarlrsle kaiqcpffrn lekgwrdlse ldssveemlq
       61 lmdsgiticl rngaasvfkk kewstqgeen kqdsklkkls edsltkqpee vfdvleklge
      121 gsygsvfkai hkesgqvvai kqvpvesdlq eiikeisimq qcdspyvvky ygsyfkntdl
      181 wivmeycgag svsdiirlrn ktliedeiat ilkstlkgle ylhfmrkihr dikagnilln
      241 teghakladf gvagqltdtm akrntvigtp fwmapeviqe igyncvadiw slgitsiema
      301 egkppyadih pmraifmipt nppptfrkpe lwsddftdfv kkclvknpeq ratatqllqh
      361 pfiknakpvs ilrdliteam eikakrheeq qreleeeeen sdedeldsht mvktsvesvg
      421 tmratstmse gaqtmiehns tmlesdlgtm vinsedeeee dgtmkrnats pqvqrpsfmd
      481 yfdkqdfknk shencnqnmh epfpmsknvf pdnwkvpqdg dfdf
//
LOCUS       NP_001310829             349 aa            linear   PRI 18-DEC-2022
DEFINITION  germ cell-specific gene 1-like protein isoform 3 precursor [Homo
            sapiens].
ACCESSION   NP_001310829 XP_011544051
VERSION     NP_001310829.1
DBSOURCE    REFSEQ: accession NM_001323900.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 349)
  AUTHORS   Yang HC, Chu SK, Huang CL, Kuo HW, Wang SC, Liu SW, Ho IK and Liu
            YL.
  TITLE     Genome-Wide Pharmacogenomic Study on Methadone Maintenance
            Treatment Identifies SNP rs17180299 and Multiple Haplotypes on
            CYP2B6, SPON1, and GSG1L Associated with Plasma Concentrations of
            Methadone R- and S-enantiomers in Heroin-Dependent Patients
  JOURNAL   PLoS Genet 12 (3), e1005910 (2016)
   PUBMED   27010727
  REMARK    GeneRIF: gene expression experiment revealed that CYP2B6, SPON1,
            and GSG1L can be activated concomitantly through a constitutive
            androstane receptor (CAR) activation pathway
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 349)
  AUTHORS   Gu X, Mao X, Lussier MP, Hutchison MA, Zhou L, Hamra FK, Roche KW
            and Lu W.
  TITLE     GSG1L suppresses AMPA receptor-mediated synaptic transmission and
            uniquely modulates AMPA receptor kinetics in hippocampal neurons
  JOURNAL   Nat Commun 7, 10873 (2016)
   PUBMED   26932439
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 349)
  AUTHORS   Shanks NF, Savas JN, Maruo T, Cais O, Hirao A, Oe S, Ghosh A, Noda
            Y, Greger IH, Yates JR 3rd and Nakagawa T.
  TITLE     Differences in AMPA and kainate receptor interactomes facilitate
            identification of AMPA receptor auxiliary subunit GSG1L
  JOURNAL   Cell Rep 1 (6), 590-598 (2012)
   PUBMED   22813734
REFERENCE   4  (residues 1 to 349)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA
            and Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   5  (residues 1 to 349)
  AUTHORS   Rual JF, Hirozane-Kishikawa T, Hao T, Bertin N, Li S, Dricot A, Li
            N, Rosenberg J, Lamesch P, Vidalain PO, Clingingsmith TR, Hartley
            JL, Esposito D, Cheo D, Moore T, Simmons B, Sequerra R, Bosak S,
            Doucette-Stamm L, Le Peuch C, Vandenhaute J, Cusick ME, Albala JS,
            Hill DE and Vidal M.
  TITLE     Human ORFeome version 1.1: a platform for reverse proteomics
  JOURNAL   Genome Res 14 (10B), 2128-2135 (2004)
   PUBMED   15489335
REFERENCE   6  (residues 1 to 349)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009030.10, AC130449.2 and AC008732.9.
            On Apr 23, 2016 this sequence version replaced XP_011544051.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.50105.1, BG912728.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155550 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..349
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.1"
     Protein         1..349
                     /product="germ cell-specific gene 1-like protein isoform 3
                     precursor"
                     /note="germ cell-specific gene 1-like protein; KTSR5831;
                     GSG1-like protein"
                     /calculated_mol_wt=36171
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2772
     Region          24..132
                     /region_name="GSG-1"
                     /note="GSG1-like protein; pfam07803"
                     /db_xref="CDD:429667"
     Region          <102..235
                     /region_name="PMP22_Claudin"
                     /note="PMP-22/EMP/MP20/Claudin family; cl21598"
                     /db_xref="CDD:451326"
     CDS             1..349
                     /gene="GSG1L"
                     /gene_synonym="PRO19651"
                     /coded_by="NM_001323900.2:291..1340"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="GeneID:146395"
                     /db_xref="HGNC:HGNC:28283"
                     /db_xref="MIM:617161"
ORIGIN      
        1 mktsrrgral lavalnllal lfattafltt hwcqgtqrvp kpgcgqggra ncpnsganat
       61 angtaapaaa aaaatasgng ppggalyswe tgddrflfrn fhtgiwysce eelsglgekc
      121 rsfidlapas ekgvlwlsvv sevlyilllv vgfslmclel fhssnvidgl klnafaavft
      181 vlsgllgmva hmmytqvfqv tvslgpedwr phswdygwsf clawgsftcc maasvttlns
      241 ytktviefrh krkvfeqgyr eeptfidpea ikyfrerwqi eaqrgratcp rshswmekrd
      301 gseedfhldc rheryparhq phmadswprs saqeapelnr qcwvlghwv
//
LOCUS       NP_001291738            1058 aa            linear   PRI 22-DEC-2022
DEFINITION  bromodomain-containing protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001291738
VERSION     NP_001291738.1
DBSOURCE    REFSEQ: accession NM_001304809.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1058)
  AUTHORS   Paternoster V, Comert C, Kirk LS, la Cour SH, Fryland T,
            Fernandez-Guerra P, Stougaard M, Nyengaard JR, Qvist P, Bross P,
            Borglum AD and Christensen JH.
  TITLE     The psychiatric risk gene BRD1 modulates mitochondrial
            bioenergetics by transcriptional regulation
  JOURNAL   Transl Psychiatry 12 (1), 319 (2022)
   PUBMED   35941107
  REMARK    GeneRIF: The psychiatric risk gene BRD1 modulates mitochondrial
            bioenergetics by transcriptional regulation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1058)
  AUTHORS   Xiao Y, Li W, Yang H, Pan L, Zhang L, Lu L, Chen J, Wei W, Ye J, Li
            J, Li G, Zhang Y, Tan M, Ding J and Wong J.
  TITLE     HBO1 is a versatile histone acyltransferase critical for promoter
            histone acylations
  JOURNAL   Nucleic Acids Res 49 (14), 8037-8059 (2021)
   PUBMED   34259319
  REMARK    GeneRIF: HBO1 is a versatile histone acyltransferase critical for
            promoter histone acylations.
REFERENCE   3  (residues 1 to 1058)
  AUTHORS   Zhang M, Lei M, Qin S, Dong A, Yang A, Li Y, Loppnau P, Hughes TR,
            Min J and Liu Y.
  TITLE     Crystal structure of the BRPF2 PWWP domain in complex with DNA
            reveals a different binding mode than the HDGF family of PWWP
            domains
  JOURNAL   Biochim Biophys Acta Gene Regul Mech 1864 (3), 194688 (2021)
   PUBMED   33556623
  REMARK    GeneRIF: Crystal structure of the BRPF2 PWWP domain in complex with
            DNA reveals a different binding mode than the HDGF family of PWWP
            domains.
REFERENCE   4  (residues 1 to 1058)
  AUTHORS   Li Z, Wang J, Ji Y and Song F.
  TITLE     Expression Characteristics and Clinical Correlations of BRD1 in
            Colorectal Cancer Samples
  JOURNAL   Technol Cancer Res Treat 20, 15330338211039678 (2021)
   PUBMED   34482774
  REMARK    GeneRIF: Expression Characteristics and Clinical Correlations of
            BRD1 in Colorectal Cancer Samples.
REFERENCE   5  (residues 1 to 1058)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 1058)
  AUTHORS   Ullah M, Pelletier N, Xiao L, Zhao SP, Wang K, Degerny C, Tahmasebi
            S, Cayrou C, Doyon Y, Goh SL, Champagne N, Cote J and Yang XJ.
  TITLE     Molecular architecture of quartet MOZ/MORF histone
            acetyltransferase complexes
  JOURNAL   Mol Cell Biol 28 (22), 6828-6843 (2008)
   PUBMED   18794358
  REMARK    Erratum:[Mol Cell Biol. 2009 Feb;29(3):942]
REFERENCE   7  (residues 1 to 1058)
  AUTHORS   Severinsen JE, Bjarkam CR, Kiaer-Larsen S, Olsen IM, Nielsen MM,
            Blechingberg J, Nielsen AL, Holm IE, Foldager L, Young BD, Muir WJ,
            Blackwood DH, Corydon TJ, Mors O and Borglum AD.
  TITLE     Evidence implicating BRD1 with brain development and susceptibility
            to both schizophrenia and bipolar affective disorder
  JOURNAL   Mol Psychiatry 11 (12), 1126-1138 (2006)
   PUBMED   16924267
REFERENCE   8  (residues 1 to 1058)
  AUTHORS   Doyon Y, Cayrou C, Ullah M, Landry AJ, Cote V, Selleck W, Lane WS,
            Tan S, Yang XJ and Cote J.
  TITLE     ING tumor suppressor proteins are critical regulators of chromatin
            acetylation required for genome expression and perpetuation
  JOURNAL   Mol Cell 21 (1), 51-64 (2006)
   PUBMED   16387653
REFERENCE   9  (residues 1 to 1058)
  AUTHORS   McCullagh P, Chaplin T, Meerabux J, Grenzelias D, Lillington D,
            Poulsom R, Gregorini A, Saha V and Young BD.
  TITLE     The cloning, mapping and expression of a novel gene, BRL, related
            to the AF10 leukaemia gene
  JOURNAL   Oncogene 18 (52), 7442-7452 (1999)
   PUBMED   10602503
REFERENCE   10 (residues 1 to 1058)
  AUTHORS   Haynes SR, Dollard C, Winston F, Beck S, Trowsdale J and Dawid IB.
  TITLE     The bromodomain: a conserved sequence found in human, Drosophila
            and yeast proteins
  JOURNAL   Nucleic Acids Res 20 (10), 2603 (1992)
   PUBMED   1350857
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AA969405.1, CR456408.1 and
            AB209216.1.
            
            Summary: This gene encodes a bromodomain-containing protein that
            localizes to the nucleus and can interact with DNA and histone
            tails. The encoded protein is a component of the MOZ/MORF
            acetyltransferase complex and can stimulate acetylation of histones
            H3 and H4, thereby potentially playing a role in gene activation.
            Variation in this gene is associated with schizophrenia and bipolar
            disorder in some study populations. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Mar 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR456408.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1058
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     Protein         1..1058
                     /product="bromodomain-containing protein 1 isoform 2"
                     /note="bromodomain-containing protein 1; BR140-like
                     protein; bromodomain and PHD finger-containing protein 2"
                     /calculated_mol_wt=119390
     Region          1..26
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95696.1)"
     Region          31..80
                     /region_name="Interaction with KAT7/HBO1 and histones.
                     /evidence=ECO:0000269|PubMed:28334966"
                     /note="propagated from UniProtKB/Swiss-Prot (O95696.1)"
     Region          47..196
                     /region_name="EPL1"
                     /note="Enhancer of polycomb-like; pfam10513"
                     /db_xref="CDD:431331"
     Region          92..116
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95696.1)"
     Site            128
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95696.1)"
     Region          139..591
                     /region_name="COG5141"
                     /note="PHD zinc finger-containing protein [General
                     function prediction only]"
                     /db_xref="CDD:227470"
     Region          271..388
                     /region_name="ePHD_BRPF2"
                     /note="Extended PHD finger found in bromodomain and PHD
                     finger-containing protein 2 (BRPF2) and similar proteins;
                     cd15702"
                     /db_xref="CDD:277172"
     Site            order(326,337..341,347,383)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277172"
     Site            368
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O95696.1)"
     Site            516
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O95696.1)"
     Site            519
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O95696.1)"
     Region          566..663
                     /region_name="Bromo_brd1_like"
                     /note="Bromodomain; brd1_like subfamily. BRD1 is a
                     mammalian gene which encodes for a nuclear protein assumed
                     to be a transcriptional regulator. BRD1 has been
                     implicated with brain development and susceptibility to
                     schizophrenia and bipolar affective disorder; cd05512"
                     /db_xref="CDD:99944"
     Site            order(591,596,599,638,642,648)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99944"
     Region          755..776
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95696.1)"
     Region          791..868
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95696.1)"
     Site            803
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95696.1)"
     Site            903
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O95696.1)"
     Site            906
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O95696.1)"
     Region          927..1046
                     /region_name="PWWP_BRPF2"
                     /note="PWWP domain found in bromodomain and PHD
                     finger-containing protein 2 (BRPF2); cd20157"
                     /db_xref="CDD:438985"
     Site            order(940,943,963..965,990..991,993,995..999)
                     /site_type="other"
                     /note="putative methyl-histone binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438985"
     Site            941..944
                     /site_type="other"
                     /note="PWWP sequence motif"
                     /db_xref="CDD:438985"
     Site            1052
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O95696.1)"
     Site            1055
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O95696.1)"
     CDS             1..1058
                     /gene="BRD1"
                     /gene_synonym="BRL; BRPF1; BRPF2"
                     /coded_by="NM_001304809.1:186..3362"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS14080.1"
                     /db_xref="GeneID:23774"
                     /db_xref="HGNC:HGNC:1102"
                     /db_xref="MIM:604589"
ORIGIN      
        1 mrrkgrchrg saarhpsspc svkhsptret ltyaqaqrmv eieiegrlhr isifdpleii
       61 leddltaqem secnsnkens erppvclrtk rhknnrvkkk nealpsahgt pasasalpep
      121 kvriveyspp saprrppvyy kfieksaeel dneveydmde edyawleivn ekrkgdcvpa
      181 vsqsmfeflm drfekeshce nqkqgeqqsl idedavccic mdgecqnsnv ilfcdmcnla
      241 vhqecygvpy ipegqwlcrh clqsrarpad cvlcpnkgga fkktdddrwg hvvcalwipe
      301 vgfantvfie pidgvrnipp arwkltcylc kqkgvgaciq chkancytaf hvtcaqkagl
      361 ymkmepvkel tgggttfsvr ktaycdvhtp pgctrrplni ygdvemkngv crkessvktv
      421 rstskvrkka kkakkalaep cavlptvcap yippqrlnri anqvaiqrkk qfverahsyw
      481 llkrlsrnga pllrrlqssl qsqrssqqre ndeemkaake klkywqrlrh dlerarllie
      541 llrkreklkr eqvkveqvam elrltpltvl lrsvldqlqd kdparifaqp vslkevpdyl
      601 dhikhpmdfa tmrkrleaqg yknlhefeed fdliidncmk ynardtvfyr aavrlrdqgg
      661 vvlrqarrev dsigleeasg mhlperpaaa prrpfswedv drlldpanra hlgleeqlre
      721 lldmldltca mkssgsrskr akllkkeial lrnklsqqhs qplptgpgle gfeedgaalg
      781 peageevlpr letllqprkr srstcgdsev eeespgkrld agltngfgga rseqepgggl
      841 grkatprrrc asessisssn splcdssfna pkcgrgkpal vrrhtledrs elisciengn
      901 yakaariaae vgqssmwist daaasvlepl kvvwakcsgy psypaliidp kmprvpghhn
      961 gvtipappld vlkigehmqt ksdeklflvl ffdnkrswqw lpkskmvplg idetidklkm
     1021 megrnssirk avriafdram nhlsrvhgep tsdlsdid
//
LOCUS       NP_115733                180 aa            linear   PRI 24-DEC-2022
DEFINITION  coiled-coil domain-containing protein 115 isoform a [Homo sapiens].
ACCESSION   NP_115733
VERSION     NP_115733.2
DBSOURCE    REFSEQ: accession NM_032357.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 180)
  AUTHORS   Larsen LE, van den Boogert MAW, Rios-Ocampo WA, Jansen JC, Conlon
            D, Chong PLE, Levels JHM, Eilers RE, Sachdev VV, Zelcer N, Raabe T,
            He M, Hand NJ, Drenth JPH, Rader DJ, Stroes ESG, Lefeber DJ, Jonker
            JW and Holleboom AG.
  TITLE     Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver
            Disease as Evidenced by Human Mutations in TMEM199 and CCDC115
  JOURNAL   Cell Mol Gastroenterol Hepatol 13 (2), 583-597 (2022)
   PUBMED   34626841
  REMARK    GeneRIF: Defective Lipid Droplet-Lysosome Interaction Causes Fatty
            Liver Disease as Evidenced by Human Mutations in TMEM199 and
            CCDC115.
REFERENCE   2  (residues 1 to 180)
  AUTHORS   Sobh A, Loguinov A, Zhou J, Jenkitkasemwong S, Zeidan R, El Ahmadie
            N, Tagmount A, Knutson M, Fraenkel PG and Vulpe CD.
  TITLE     Genetic screens reveal CCDC115 as a modulator of erythroid iron and
            heme trafficking
  JOURNAL   Am J Hematol 95 (9), 1085-1098 (2020)
   PUBMED   32510613
  REMARK    GeneRIF: Genetic screens reveal CCDC115 as a modulator of erythroid
            iron and heme trafficking.
REFERENCE   3  (residues 1 to 180)
  AUTHORS   Sanchez-Monteagudo A, Alvarez-Sauco M, Sastre I, Martinez-Torres I,
            Lupo V, Berenguer M and Espinos C.
  TITLE     Genetics of Wilson disease and Wilson-like phenotype in a clinical
            series from eastern Spain
  JOURNAL   Clin Genet 97 (5), 758-763 (2020)
   PUBMED   32043565
  REMARK    GeneRIF: Genetics of Wilson disease and Wilson-like phenotype in a
            clinical series from eastern Spain.
REFERENCE   4  (residues 1 to 180)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 180)
  AUTHORS   Girard M, Poujois A, Fabre M, Lacaille F, Debray D, Rio M, Fenaille
            F, Cholet S, Ruel C, Causse E, Selves J, Bridoux-Henno L, Woimant
            F, Dupre T, Vuillaumier-Barrot S, Seta N, Alric L, de Lonlay P and
            Bruneel A.
  TITLE     CCDC115-CDG: A new rare and misleading inherited cause of liver
            disease
  JOURNAL   Mol Genet Metab 124 (3), 228-235 (2018)
   PUBMED   29759592
  REMARK    GeneRIF: CCDC115 mutation is associated with Congenital disorders
            of glycosylation causing liver disease.
REFERENCE   6  (residues 1 to 180)
  AUTHORS   Winter JM, Curry NL, Gildea DM, Williams KA, Lee M, Hu Y and
            Crawford NPS.
  TITLE     Modifier locus mapping of a transgenic F2 mouse population
            identifies CCDC115 as a novel aggressive prostate cancer modifier
            gene in humans
  JOURNAL   BMC Genomics 19 (1), 450 (2018)
   PUBMED   29890952
  REMARK    GeneRIF: CCDC115 is associated with less aggressive prostate cancer
            in humans.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 180)
  AUTHORS   Miles AL, Burr SP, Grice GL and Nathan JA.
  TITLE     The vacuolar-ATPase complex and assembly factors, TMEM199 and
            CCDC115, control HIF1alpha prolyl hydroxylation by regulating
            cellular iron levels
  JOURNAL   Elife 6, e22693 (2017)
   PUBMED   28296633
  REMARK    GeneRIF: Vacuolar H+ ATPase (V-ATPase), the key proton pump for
            endo-lysosomal acidification, and two previously uncharacterised
            V-ATPase assembly factors, TMEM199 and CCDC115, stabilise HIF1alpha
            in aerobic conditions.
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 180)
  AUTHORS   Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S,
            Perez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Perez-Cerda C,
            Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas
            D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel
            LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA,
            Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G,
            Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G,
            Foulquier F, Marquardt T and Lefeber DJ.
  TITLE     CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with
            Abnormal Protein Glycosylation
  JOURNAL   Am J Hum Genet 98 (2), 310-321 (2016)
   PUBMED   26833332
  REMARK    GeneRIF: Our study reveals CCDC115 deficiency as a disorder of
            Golgi homeostasis that can be readily identified via screening for
            abnormal glycosylation in plasma.
REFERENCE   9  (residues 1 to 180)
  AUTHORS   Pellicano F, Thomson RE, Inman GJ and Iwata T.
  TITLE     Regulation of cell proliferation and apoptosis in neuroblastoma
            cells by ccp1, a FGF2 downstream gene
  JOURNAL   BMC Cancer 10, 657 (2010)
   PUBMED   21118521
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB025106.1, BC006429.1 and
            AA831631.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 10, 2002 this sequence version replaced NP_115733.1.
            
            Summary: The protein encoded by this gene has been observed to
            localize to the endoplasmic reticulum (ER)-Golgi intermediate
            compartment (ERGIC) and coat protein complex I (COPI) vesicles in
            some human cells. The encoded protein shares some homology with the
            yeast V-ATPase assembly factor Vma22p, and the orthologous protein
            in mouse promotes cell proliferation and suppresses cell death.
            Defects in this gene are a cause of congenital disorder of
            glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.992963.1,
                                           SRR3476690.685372.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259229.7/ ENSP00000259229.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..180
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.1"
     Protein         1..180
                     /product="coiled-coil domain-containing protein 115
                     isoform a"
                     /note="coiled-coil domain-containing protein 115"
                     /calculated_mol_wt=19629
     Region          92..122
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96NT0.1)"
     CDS             1..180
                     /gene="CCDC115"
                     /gene_synonym="ccp1; CDG2O"
                     /coded_by="NM_032357.4:40..582"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2159.1"
                     /db_xref="GeneID:84317"
                     /db_xref="HGNC:HGNC:28178"
                     /db_xref="MIM:613734"
ORIGIN      
        1 maaldlrael dslvlqllgd leelegkrtv lnarveegwl slakaryamg aksvgplqya
       61 shmepqvclh aseaqeglqk fkvvragvha peevgpreag lrrrkgptkt pepesseapq
      121 dplnwfgilv phslrqaqas frdglqlaad iaslqnridw grsqlrglqe klkqlepgaa
//
LOCUS       NP_061738                932 aa            linear   PRI 24-DEC-2022
DEFINITION  protocadherin gamma-A2 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_061738
VERSION     NP_061738.1
DBSOURCE    REFSEQ: accession NM_018915.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 932)
  AUTHORS   Wu Q, Zhang T, Cheng JF, Kim Y, Grimwood J, Schmutz J, Dickson M,
            Noonan JP, Zhang MQ, Myers RM and Maniatis T.
  TITLE     Comparative DNA sequence analysis of mouse and human protocadherin
            gene clusters
  JOURNAL   Genome Res 11 (3), 389-404 (2001)
   PUBMED   11230163
REFERENCE   2  (residues 1 to 932)
  AUTHORS   Nollet F, Kools P and van Roy F.
  TITLE     Phylogenetic analysis of the cadherin superfamily allows
            identification of six major subfamilies besides several solitary
            members
  JOURNAL   J Mol Biol 299 (3), 551-572 (2000)
   PUBMED   10835267
  REMARK    Review article
REFERENCE   3  (residues 1 to 932)
  AUTHORS   Yagi T and Takeichi M.
  TITLE     Cadherin superfamily genes: functions, genomic organization, and
            neurologic diversity
  JOURNAL   Genes Dev 14 (10), 1169-1180 (2000)
   PUBMED   10817752
  REMARK    Review article
REFERENCE   4  (residues 1 to 932)
  AUTHORS   Wu Q and Maniatis T.
  TITLE     Large exons encoding multiple ectodomains are a characteristic
            feature of protocadherin genes
  JOURNAL   Proc Natl Acad Sci U S A 97 (7), 3124-3129 (2000)
   PUBMED   10716726
REFERENCE   5  (residues 1 to 932)
  AUTHORS   Wu Q and Maniatis T.
  TITLE     A striking organization of a large family of human neural
            cadherin-like cell adhesion genes
  JOURNAL   Cell 97 (6), 779-790 (1999)
   PUBMED   10380929
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA314472.1 and AF152322.1.
            
            Summary: This gene is a member of the protocadherin gamma gene
            cluster, one of three related clusters tandemly linked on
            chromosome five. These gene clusters have an immunoglobulin-like
            organization, suggesting that a novel mechanism may be involved in
            their regulation and expression. The gamma gene cluster includes 22
            genes divided into 3 subfamilies. Subfamily A contains 12 genes,
            subfamily B contains 7 genes and 2 pseudogenes, and the more
            distantly related subfamily C contains 3 genes. The tandem array of
            22 large, variable region exons are followed by a constant region,
            containing 3 exons shared by all genes in the cluster. Each
            variable region exon encodes the extracellular region, which
            includes 6 cadherin ectodomains and a transmembrane region. The
            constant region exons encode the common cytoplasmic region. These
            neural cadherin-like cell adhesion proteins most likely play a
            critical role in the establishment and function of specific
            cell-cell connections in the brain. Alternative splicing has been
            described for the gamma cluster genes. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) includes the constant region
            exons and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.100293.1,
                                           SRR1803617.137662.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394576.3/ ENSP00000378077.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..932
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     Protein         1..932
                     /product="protocadherin gamma-A2 isoform 1 precursor"
                     /note="protocadherin gamma-A2"
                     /calculated_mol_wt=98293
     sig_peptide     1..28
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3210
     mat_peptide     29..932
                     /product="Protocadherin gamma-A2. /id=PRO_0000003950"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5H1.1)"
                     /calculated_mol_wt=98293
     Region          30..112
                     /region_name="Cadherin_2"
                     /note="Cadherin-like; pfam08266"
                     /db_xref="CDD:400525"
     Region          137..238
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(144..145,201,203,234,236..237)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          246..343
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(253..254,308,310,339,341..342)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          355..448
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(358..359,411,413,444,446..447)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            419
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5H1.1)"
     Region          456..558
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(463..464,521,523,554,556..557)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            545
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5H1.1)"
     Region          579..666
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            685
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5H1.1)"
     Region          688..772
                     /region_name="Cadherin_C_2"
                     /note="Cadherin cytoplasmic C-terminal; pfam16492"
                     /db_xref="CDD:435374"
     Site            693..713
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5H1.1)"
     Region          798..841
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5H1.1)"
     Region          811..>905
                     /region_name="Cadherin_tail"
                     /note="Cadherin C-terminal cytoplasmic tail,
                     catenin-binding region; pfam15974"
                     /db_xref="CDD:435046"
     Region          902..932
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5H1.1)"
     CDS             1..932
                     /gene="PCDHGA2"
                     /gene_synonym="PCDH-GAMMA-A2"
                     /coded_by="NM_018915.4:213..3011"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS47289.1"
                     /db_xref="GeneID:56113"
                     /db_xref="HGNC:HGNC:8700"
                     /db_xref="MIM:606289"
ORIGIN      
        1 maalqklphc rklvllcfll atlwearagq irysvreeid rgsfvgniak dlgleplala
       61 eqgvrivsrg rsqlfalnpr sgslvtanri dreelcaqsa pcllnfnill edkltiysve
      121 veitdindna prfgveelel kisetttpgf riplknahda dvgenalqky alnpndhfsl
      181 dvrrgadgnk ypelvlersl dreeeavhhl vlvasdggdp vlsgtsricv kvldandnap
      241 vftqpeyris ipentlvgtr iltvtatdad egyyaqvvyf lekspgetse vfelkstsge
      301 ltiikdldye datfheidie aqdgpglltr akvivtvldv ndnapefymt satssvseds
      361 lpgtiiglfn vhdrdsgqna fttcslpedl pfkleksvdn yyrlvttral dreqfsfyni
      421 tltakdggnp slstdahill qvadindnap afsrtsysty ipennprgas vfsvtahdpd
      481 sndnahvtys faedtvqgap lssyisinsd tgvlyalrsf dyeqlrdlqv wviardsgnp
      541 plssnvslsl fvldqndnap eilypafptd gstgvelapr saepgylvtk vvavdrdsgq
      601 nawlsyhllk asepglfsvg lhtgevrtar alldrdalkq slvvaiqdhg qpplsatvtl
      661 tvavadripd iladlgslep saipndsdlt lylvvavaav scvflafviv llahrlrrwh
      721 ksrllqasgg sltgmqsshf vgvdgvrafl qtyshevslt adsrkshlif pqpnyadtli
      781 sqescekkdf lsapqsllee ereetfsqqa ppntdwrfsq aqrpgtsgsq ngddtgtwpn
      841 nqfdtemlqa milasaseaa dgsstlggga gtmglsaryg pqftlqhvpd yrqnvyipgs
      901 natltnaagk rdgkapaggn gnkkksgkke kk
//
LOCUS       NP_001353429             789 aa            linear   PRI 24-DEC-2022
DEFINITION  protein FAM193B isoform 3 [Homo sapiens].
ACCESSION   NP_001353429 XP_006714939
VERSION     NP_001353429.1
DBSOURCE    REFSEQ: accession NM_001366500.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 789)
  AUTHORS   Xie G, Zheng X, Zheng Z, Wu R, Yao Z, Huang W, Sun F, Mu X, Wu K
            and Zheng J.
  TITLE     The ceRNA PVT1 inhibits proliferation of ccRCC cells by sponging
            miR-328-3p to elevate FAM193B expression
  JOURNAL   Aging (Albany NY) 13 (17), 21712-21728 (2021)
   PUBMED   34518442
  REMARK    GeneRIF: The ceRNA PVT1 inhibits proliferation of ccRCC cells by
            sponging miR-328-3p to elevate FAM193B expression.
REFERENCE   2  (residues 1 to 789)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 789)
  AUTHORS   Rutz N, Heilbronn R and Weger S.
  TITLE     Interactions of cullin3/KCTD5 complexes with both cytoplasmic and
            nuclear proteins: Evidence for a role in protein stabilization
  JOURNAL   Biochem Biophys Res Commun 464 (3), 922-928 (2015)
   PUBMED   26188516
  REMARK    GeneRIF: Identification of FAM193b as KCTD5 interaction partner.
            Formation of trimeric complexes of KCTD5/cullin3 with MCM7, ZNF711
            and FAM193B.
REFERENCE   4  (residues 1 to 789)
  AUTHORS   Picchione F, Pritchard C, Lagutina I, Janke L and Grosveld GC.
  TITLE     IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar
            rhabdomyosarcoma (ARMS)
  JOURNAL   Carcinogenesis 32 (4), 452-461 (2011)
   PUBMED   21177767
  REMARK    GeneRIF: Expression of full length IRIZIO cDNA also cooperated with
            PAX3-FOXO1 in the transformation of Arf-/- myoblasts. Given that
            IRIZIO is expressed at increased levels in rhabdomyosarcoma, it
            might contribute to rhabdomyosarcomagenesis in humans.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC139795.3 and AC145098.2.
            On Oct 8, 2018 this sequence version replaced XP_006714939.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1770337.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..789
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     Protein         1..789
                     /product="protein FAM193B isoform 3"
                     /note="protein FAM193B"
                     /calculated_mol_wt=84470
     Region          107..>217
                     /region_name="PHA03269"
                     /note="envelope glycoprotein C; Provisional"
                     /db_xref="CDD:165527"
     Region          <443..>641
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     Region          734..784
                     /region_name="FAM193_C"
                     /note="FAM193 family C-terminal; pfam15914"
                     /db_xref="CDD:435016"
     CDS             1..789
                     /gene="FAM193B"
                     /gene_synonym="IRIZIO"
                     /coded_by="NM_001366500.1:1058..3427"
                     /note="isoform 3 is encoded by transcript variant 5"
                     /db_xref="GeneID:54540"
                     /db_xref="HGNC:HGNC:25524"
                     /db_xref="MIM:615813"
ORIGIN      
        1 mpklvknllg emplwvcqsc rksmeederq tgrehavais lshtscksqs cgddshssss
       61 ssssssssss sscpgnsgdw dpssflsahk lsglwnsphs sgampgsslg spptipgeaf
      121 pvsehhqhsd ltappnsptg hhpqpaslip shpssfgspp hphllpttpa apfpaqasec
      181 pvaaatapht pgpcqsshlp stsmpllkmp ppfsgcshpc sghcgghcsg pllpppssqp
      241 lpsthrdpgc kghkfahsgl acqlpqpcea deglgeeeds sserssctss sthqrdgkfc
      301 dccyceffgh nappaaptsr nyteireklr srltrrkeel pmkggtlggi pgepavdhrd
      361 vdellefins tepkvpnsar aakrarhklk kkekekaqla aealkqanrv sgsreprpar
      421 erllewpdre ldrvnsflss rlqeikntvk dsirasfsvc elsmdsngfs kegaaepepq
      481 slppsnlsgs seqqpdinld lspltlgspq nhtlqapgep appwaemrgp hppwtevrgp
      541 ppgivpengl vrrlntvpnl srviwvktpk pgypsseeps skevpsckqe lpepvssggk
      601 pqkgkrqgsq akkseaspap rppaslevps akgqvagpkq pgrvlelpkv gscaeagegs
      661 rgsrpgpgwa gspktekekg sswrnwpgea karpqeqesv qpsgparpqs lpqgkgrsrr
      721 srnkqekpas slddvflpkd mdgvemdetd reveyfkrfc ldsakqtrqk vavnwtnfsl
      781 kkttpstaq
//
LOCUS       NP_073572                528 aa            linear   PRI 25-DEC-2022
DEFINITION  Golgi resident protein GCP60 [Homo sapiens].
ACCESSION   NP_073572
VERSION     NP_073572.2
DBSOURCE    REFSEQ: accession NM_022735.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 528)
  AUTHORS   Houghton-Gisby J, Kerslake R, Karteris E, Mokbel K and Harvey AJ.
  TITLE     ACBD3 Bioinformatic Analysis and Protein Expression in Breast
            Cancer Cells
  JOURNAL   Int J Mol Sci 23 (16), 8881 (2022)
   PUBMED   36012147
  REMARK    GeneRIF: ACBD3 Bioinformatic Analysis and Protein Expression in
            Breast Cancer Cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 528)
  AUTHORS   Zheng Y, Pei Y, Tang R, Zhou X, Feng Z, Li D, Chen H, Zeng Z, Jiang
            L, Cai J, Mao P and Wang L.
  TITLE     ACBD3 is up-regulated in gastric cancer and promotes cell cycle
            G1-to-S transition in an AKT-dependent manner
  JOURNAL   Exp Cell Res 406 (2), 112752 (2021)
   PUBMED   34332983
  REMARK    GeneRIF: ACBD3 is up-regulated in gastric cancer and promotes cell
            cycle G1-to-S transition in an AKT-dependent manner.
REFERENCE   3  (residues 1 to 528)
  AUTHORS   Danhelovska T, Zdrazilova L, Stufkova H, Vanisova M, Volfova N,
            Krizova J, Kuda O, Sladkova J and Tesarova M.
  TITLE     Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but
            Unaffected Mitochondrial Functions in HEK293 and HeLa Cells
  JOURNAL   Int J Mol Sci 22 (14), 7270 (2021)
   PUBMED   34298889
  REMARK    GeneRIF: Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but
            Unaffected Mitochondrial Functions in HEK293 and HeLa Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 528)
  AUTHORS   Chalupska D, Rozycki B, Klima M and Boura E.
  TITLE     Structural insights into Acyl-coenzyme A binding domain containing
            3 (ACBD3) protein hijacking by picornaviruses
  JOURNAL   Protein Sci 28 (12), 2073-2079 (2019)
   PUBMED   31583778
  REMARK    GeneRIF: The picornaviruses use their small nonstructural protein
            3A that binds the Golgi dynamics domain of the ACBD3 protein.
REFERENCE   5  (residues 1 to 528)
  AUTHORS   Yue X, Qian Y, Gim B and Lee I.
  TITLE     Acyl-CoA-Binding Domain-Containing 3 (ACBD3; PAP7; GCP60): A
            Multi-Functional Membrane Domain Organizer
  JOURNAL   Int J Mol Sci 20 (8), 2028 (2019)
   PUBMED   31022988
  REMARK    GeneRIF: This review aims to give a timely overview of recent
            findings on Acyl-CoA-binding domain-containing 3 protein, including
            its emerging role in membrane domain organization at the Golgi and
            the mitochondria. [review]
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 528)
  AUTHORS   Liu J, Matyakhina L, Han Z, Sandrini F, Bei T, Stratakis CA and
            Papadopoulos V.
  TITLE     Molecular cloning, chromosomal localization of human
            peripheral-type benzodiazepine receptor and PKA regulatory subunit
            type 1A (PRKAR1A)-associated protein PAP7, and studies in PRKAR1A
            mutant cells and tissues
  JOURNAL   FASEB J 17 (9), 1189-1191 (2003)
   PUBMED   12692076
  REMARK    GeneRIF: Molecular cloning, chromosomal localization and expression
            pattern of PAP7.
REFERENCE   7  (residues 1 to 528)
  AUTHORS   Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR
            and Vandekerckhove J.
  TITLE     Exploring proteomes and analyzing protein processing by mass
            spectrometric identification of sorted N-terminal peptides
  JOURNAL   Nat Biotechnol 21 (5), 566-569 (2003)
   PUBMED   12665801
REFERENCE   8  (residues 1 to 528)
  AUTHORS   Liu J, Cavalli LR, Haddad BR and Papadopoulos V.
  TITLE     Molecular cloning, genomic organization, chromosomal mapping and
            subcellular localization of mouse PAP7: a PBR and PKA-RIalpha
            associated protein
  JOURNAL   Gene 308, 1-10 (2003)
   PUBMED   12711385
REFERENCE   9  (residues 1 to 528)
  AUTHORS   Li H, Degenhardt B, Tobin D, Yao ZX, Tasken K and Papadopoulos V.
  TITLE     Identification, localization, and function in steroidogenesis of
            PAP7: a peripheral-type benzodiazepine receptor- and PKA
            (RIalpha)-associated protein
  JOURNAL   Mol Endocrinol 15 (12), 2211-2228 (2001)
   PUBMED   11731621
REFERENCE   10 (residues 1 to 528)
  AUTHORS   Sohda M, Misumi Y, Yamamoto A, Yano A, Nakamura N and Ikehara Y.
  TITLE     Identification and characterization of a novel Golgi protein,
            GCP60, that interacts with the integral membrane protein giantin
  JOURNAL   J Biol Chem 276 (48), 45298-45306 (2001)
   PUBMED   11590181
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL592045.28.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 2, 2001 this sequence version replaced NP_073572.1.
            
            Summary: The Golgi complex plays a key role in the sorting and
            modification of proteins exported from the endoplasmic reticulum.
            The protein encoded by this gene is involved in the maintenance of
            Golgi structure and function through its interaction with the
            integral membrane protein giantin. It may also be involved in the
            hormonal regulation of steroid formation. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB043587.2, BC045533.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366812.6/ ENSP00000355777.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..528
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.12"
     Protein         1..528
                     /product="Golgi resident protein GCP60"
                     /note="golgi phosphoprotein 1; acyl-Coenzyme A binding
                     domain containing 3; golgi complex associated protein 1,
                     60kDa; PKA (RIalpha)-associated protein; PBR- and
                     PKA-associated protein 7; peripheral benzodiazepine
                     receptor-associated protein PAP7"
                     /calculated_mol_wt=60462
     Region          1..71
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H3P7.4)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine, in Golgi resident protein GCP60,
                     N-terminally processed.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9H3P7.4)"
     Site            13
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9H3P7.4)"
     Site            18
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9H3P7.4)"
     Site            20
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9H3P7.4)"
     Site            43
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9H3P7.4)"
     Site            47
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9H3P7.4)"
     Region          84..165
                     /region_name="ACBP"
                     /note="Acyl CoA binding protein; pfam00887"
                     /db_xref="CDD:425931"
     Site            order(113,116..117,142,161)
                     /site_type="other"
                     /note="CoA binding site [chemical binding]"
                     /db_xref="CDD:238248"
     Region          182..240
                     /region_name="Charged amino-acid region (CAR).
                     /evidence=ECO:0000269|PubMed:23572552"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H3P7.4)"
     Region          182..230
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H3P7.4)"
     Region          241..308
                     /region_name="Q domain, Interaction with PI4KB, TBC1D22A
                     and TBC1D22B. /evidence=ECO:0000269|PubMed:23572552,
                     ECO:0000269|PubMed:27009356"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H3P7.4)"
     Region          335..362
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H3P7.4)"
     Region          397..527
                     /region_name="GOLD_2"
                     /note="Golgi-dynamics membrane-trafficking; pfam13897"
                     /db_xref="CDD:433565"
     Site            399
                     /site_type="other"
                     /note="Membrane-binding.
                     /evidence=ECO:0000269|PubMed:28065508,
                     ECO:0000269|PubMed:31381608; propagated from
                     UniProtKB/Swiss-Prot (Q9H3P7.4)"
     Region          514..516
                     /region_name="Membrane-binding.
                     /evidence=ECO:0000269|PubMed:28065508,
                     ECO:0000269|PubMed:31381608"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H3P7.4)"
     CDS             1..528
                     /gene="ACBD3"
                     /gene_synonym="GCP60; GOCAP1; GOLPH1; PAP7"
                     /coded_by="NM_022735.4:67..1653"
                     /db_xref="CCDS:CCDS1551.1"
                     /db_xref="GeneID:64746"
                     /db_xref="HGNC:HGNC:15453"
                     /db_xref="MIM:606809"
ORIGIN      
        1 maavlnaerl evsvdgltls pdpeerpgae gapllppplp ppsppgsgrg pgasgeqpep
       61 geaaaggaae earrleqrwg fgleelygla lrffkekdgk afhptyeekl klvalhkqvl
      121 mgpynpdtcp evgffdvlgn drrrewaalg nmskedamve fvkllnrcch lfstyvashk
      181 iekeeqekkr keeeerrrre eeererlqke eekrrreeee rlrreeeerr rieeerlrle
      241 qqkqqimaal nsqtavqfqq yaaqqypgny eqqqilirql qeqhyqqymq qlyqvqlaqq
      301 qaalqkqqev vvagsslpts skvnatvpsn mmsvngqakt htdssekele peaaeealen
      361 gpkeslpvia apsmwtrpqi kdfkekiqqd adsvitvgrg evvtvrvpth eegsylfwef
      421 atdnydigfg vyfewtdspn tavsvhvses sdddeeeeen igceekakkn ankplldeiv
      481 pvyrrdchee vyagshqypg rgvyllkfdn syslwrsksv yyrvyytr
//
LOCUS       NP_619650                181 aa            linear   PRI 25-DEC-2022
DEFINITION  calmodulin-like protein 6 isoform 1 [Homo sapiens].
ACCESSION   NP_619650
VERSION     NP_619650.2
DBSOURCE    REFSEQ: accession NM_138705.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 181)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 181)
  AUTHORS   Wang Z, Sheng C, Yao C, Chen H, Wang D and Chen S.
  TITLE     The EF-Hand Protein CALML6 Suppresses Antiviral Innate Immunity by
            Impairing IRF3 Dimerization
  JOURNAL   Cell Rep 26 (5), 1273-1285 (2019)
   PUBMED   30699354
  REMARK    GeneRIF: The EF-hand protein calmodulin-like 6 (CALML6) directly
            bound to the phosphorylated serine-rich (SR) region of IRF3 and
            impaired its dimerization and nuclear translocation.
REFERENCE   3  (residues 1 to 181)
  AUTHORS   Chen S, Guo JH, Saiyin H, Chen L, Zhou GJ, Huang CQ and Yu L.
  TITLE     Cloning and characterization of human CAGLP gene encoding a novel
            EF-hand protein
  JOURNAL   DNA Seq 15 (5-6), 365-368 (2004)
   PUBMED   15621662
  REMARK    GeneRIF: a novel human gene, CAGLP (calglandulin-like protein) was
            predicted, and subsequently isolated from human skeleton muscle
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF490905.2 and AL109917.22.
            On Aug 3, 2004 this sequence version replaced NP_619650.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF490905.2, AY566229.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151119, SAMEA2158800
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307786.8/ ENSP00000304643.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..181
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     Protein         1..181
                     /product="calmodulin-like protein 6 isoform 1"
                     /note="calglandulin-like protein; EF-hand protein;
                     calmodulin-like protein 6"
                     /calculated_mol_wt=20559
     Region          26..173
                     /region_name="PTZ00184"
                     /note="calmodulin; Provisional"
                     /db_xref="CDD:185504"
     CDS             1..181
                     /gene="CALML6"
                     /gene_synonym="CAGLP"
                     /coded_by="NM_138705.4:22..567"
                     /note="similar to GenBank Accession Number NT_004350;
                     isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS30566.1"
                     /db_xref="GeneID:163688"
                     /db_xref="HGNC:HGNC:24193"
                     /db_xref="MIM:610171"
ORIGIN      
        1 mglqqeislq pwchhpaesc qtttdmterl saeqikeykg vfemfdeegn gevktgelew
       61 lmsllginpt kselasmakd vdrdnkgffn cdgflalmgv yhekaqnqes elraafrvfd
      121 kegkgyidwn tlkyvlmnag eplneveaeq mmkeadkdgd rtidyeefva mmtgesfkli
      181 q
//
LOCUS       NP_060257                342 aa            linear   PRI 25-DEC-2022
DEFINITION  WW domain binding protein 1-like isoform 2 [Homo sapiens].
ACCESSION   NP_060257 NP_060160
VERSION     NP_060257.4
DBSOURCE    REFSEQ: accession NM_017787.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 342)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 342)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 342)
  AUTHORS   Guan F, Ni T, Han W, Lin H, Zhang B, Chen G, Zhu L, Liu D and Zhang
            T.
  TITLE     Evaluation of the relationships of the WBP1L gene with
            schizophrenia and the general psychopathology scale based on a
            case-control study
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 183 (3), 164-171 (2020)
   PUBMED   31840934
  REMARK    GeneRIF: Evaluation of the relationships of the WBP1L gene with
            schizophrenia and the general psychopathology scale based on a
            case-control study.
REFERENCE   4  (residues 1 to 342)
  AUTHORS   Zhang H, Mo X, Zhou Z, Zhu Z, HuangFu X, Guo Z and Zhang Y.
  TITLE     Detection of Putative Functional Single Nucleotide Polymorphisms in
            Blood Pressure Loci and Validation of Association Between Single
            Nucleotide Polymorphism in WBP1L and Hypertension in the Chinese
            Han Population
  JOURNAL   J Cardiovasc Pharmacol 73 (1), 48-55 (2019)
   PUBMED   30422892
  REMARK    GeneRIF: WBP1L SNP rs176185 may be associated with hypertension in
            the Chinese Han population.
REFERENCE   5  (residues 1 to 342)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   6  (residues 1 to 342)
  AUTHORS   Holleman A, den Boer ML, Cheok MH, Kazemier KM, Pei D, Downing JR,
            Janka-Schaub GE, Gobel U, Graubner UB, Pui CH, Evans WE and Pieters
            R.
  TITLE     Expression of the outcome predictor in acute leukemia 1 (OPAL1)
            gene is not an independent prognostic factor in patients treated
            according to COALL or St Jude protocols
  JOURNAL   Blood 108 (6), 1984-1990 (2006)
   PUBMED   16709928
  REMARK    GeneRIF: OPAL1 expression may not be an independent prognostic
            feature in childhood ALL, and its previously reported prognostic
            impact appears to be treatment dependent.
REFERENCE   7  (residues 1 to 342)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   8  (residues 1 to 342)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe
            JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C,
            Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J,
            White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L,
            Morris JC, Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 342)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD,
            Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird
            G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson
            T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan
            S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou
            T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore
            N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J,
            Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead
            SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T,
            Doucette-Stamm L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   10 (residues 1 to 342)
  AUTHORS   Ohira M, Morohashi A, Inuzuka H, Shishikura T, Kawamoto T, Kageyama
            H, Nakamura Y, Isogai E, Takayasu H, Sakiyama S, Suzuki Y, Sugano
            S, Goto T, Sato S and Nakagawara A.
  TITLE     Expression profiling and characterization of 4200 genes cloned from
            primary neuroblastomas: identification of 305 genes differentially
            expressed between favorable and unfavorable subsets
  JOURNAL   Oncogene 22 (35), 5525-5536 (2003)
   PUBMED   12934113
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA797839.1, AY656171.1 and AL358790.22.
            On Apr 11, 2007 this sequence version replaced NP_060257.3.
            
            Transcript Variant: This variant (2) has an alternate exon at its
            5' end, compared to variant 1, resulting in a unique 5' UTR and use
            of a distinct translation initiation codon, compared to variant 1.
            The encoded protein (isoform 2) is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY656171.1, SRR1803617.18062.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..342
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.32"
     Protein         1..342
                     /product="WW domain binding protein 1-like isoform 2"
                     /note="outcome predictor in acute leukemia 1"
                     /calculated_mol_wt=37697
     Region          22..111
                     /region_name="WBP-1"
                     /note="WW domain-binding protein 1; pfam11669"
                     /db_xref="CDD:431993"
     Site            42..62
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX94.2)"
     Region          133..247
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX94.2)"
     Region          138..>259
                     /region_name="Herpes_pp85"
                     /note="Herpesvirus phosphoprotein 85 (HHV6-7 U14/HCMV
                     UL25); cl27999"
                     /db_xref="CDD:355693"
     Site            173
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NX94.2)"
     Region          292..320
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NX94.2)"
     CDS             1..342
                     /gene="WBP1L"
                     /gene_synonym="C10orf26; OPA1L; OPAL1"
                     /coded_by="NM_017787.5:171..1199"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS7540.1"
                     /db_xref="GeneID:54838"
                     /db_xref="HGNC:HGNC:23510"
                     /db_xref="MIM:611129"
ORIGIN      
        1 mpfllglrqd keacvgtnnq syicdtghcc gqsqccnyyy elwwfwlvwt iiiilscccv
       61 chhrrakhrl qaqqrqhein liayreahny salpfyfrfl pnyllppyee vvnrpptppp
      121 pysafqlqqq qllppqcgpa ggsppgidpt rgsqgaqssp lsepsrsstr ppsiadpdps
      181 dlpvdraatk apgmepsgsv aglgeldpga fldkdaecre ellkddsseh gapdskektp
      241 grhrrftgds gievcvcnrg hhdddlkefn tliddaldgp ldfcdschvr ppgdeeeglc
      301 qsseeqarep ghphlprppa clllntineq dspnsqssss ps
//
LOCUS       NP_001035827             859 aa            linear   PRI 26-DEC-2022
DEFINITION  ral guanine nucleotide dissociation stimulator isoform 2 [Homo
            sapiens].
ACCESSION   NP_001035827
VERSION     NP_001035827.1
DBSOURCE    REFSEQ: accession NM_001042368.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 859)
  AUTHORS   Chen TC, Lin KT, Chen CH, Lee SA, Lee PY, Liu YW, Kuo YL, Wang FS,
            Lai JM and Huang CY.
  TITLE     Using an in situ proximity ligation assay to systematically profile
            endogenous protein-protein interactions in a pathway network
  JOURNAL   J Proteome Res 13 (12), 5339-5346 (2014)
   PUBMED   25241761
REFERENCE   2  (residues 1 to 859)
  AUTHORS   Smith MJ and Ikura M.
  TITLE     Integrated RAS signaling defined by parallel NMR detection of
            effectors and regulators
  JOURNAL   Nat Chem Biol 10 (3), 223-230 (2014)
   PUBMED   24441586
REFERENCE   3  (residues 1 to 859)
  AUTHORS   Ragain CM, Newberry RW, Ritchie AW and Webb LJ.
  TITLE     Role of electrostatics in differential binding of RalGDS to Rap
            mutations E30D and K31E investigated by vibrational spectroscopy of
            thiocyanate probes
  JOURNAL   J Phys Chem B 116 (31), 9326-9336 (2012)
   PUBMED   22738401
  REMARK    GeneRIF: Investigated is the role that electrostatic field
            differences caused by the charge reversal mutation Rap1A K31E play
            in determining the binding specificity of RalGDS to Rap1A versus
            Ras.
REFERENCE   4  (residues 1 to 859)
  AUTHORS   Gloerich M, ten Klooster JP, Vliem MJ, Koorman T, Zwartkruis FJ,
            Clevers H and Bos JL.
  TITLE     Rap2A links intestinal cell polarity to brush border formation
  JOURNAL   Nat Cell Biol 14 (8), 793-801 (2012)
   PUBMED   22797597
REFERENCE   5  (residues 1 to 859)
  AUTHORS   Steele BM, Harper MT, Smolenski AP, Alkazemi N, Poole AW,
            Fitzgerald DJ and Maguire PB.
  TITLE     WNT-3a modulates platelet function by regulating small GTPase
            activity
  JOURNAL   FEBS Lett 586 (16), 2267-2272 (2012)
   PUBMED   22705156
REFERENCE   6  (residues 1 to 859)
  AUTHORS   Miller MJ, Prigent S, Kupperman E, Rioux L, Park SH, Feramisco JR,
            White MA, Rutkowski JL and Meinkoth JL.
  TITLE     RalGDS functions in Ras- and cAMP-mediated growth stimulation
  JOURNAL   J Biol Chem 272 (9), 5600-5605 (1997)
   PUBMED   9038168
REFERENCE   7  (residues 1 to 859)
  AUTHORS   Urano T, Emkey R and Feig LA.
  TITLE     Ral-GTPases mediate a distinct downstream signaling pathway from
            Ras that facilitates cellular transformation
  JOURNAL   EMBO J 15 (4), 810-816 (1996)
   PUBMED   8631302
REFERENCE   8  (residues 1 to 859)
  AUTHORS   Spaargaren M and Bischoff JR.
  TITLE     Identification of the guanine nucleotide dissociation stimulator
            for Ral as a putative effector molecule of R-ras, H-ras, K-ras, and
            Rap
  JOURNAL   Proc Natl Acad Sci U S A 91 (26), 12609-12613 (1994)
   PUBMED   7809086
REFERENCE   9  (residues 1 to 859)
  AUTHORS   Hofer F, Fields S, Schneider C and Martin GS.
  TITLE     Activated Ras interacts with the Ral guanine nucleotide
            dissociation stimulator
  JOURNAL   Proc Natl Acad Sci U S A 91 (23), 11089-11093 (1994)
   PUBMED   7972015
REFERENCE   10 (residues 1 to 859)
  AUTHORS   Albright CF, Giddings BW, Liu J, Vito M and Weinberg RA.
  TITLE     Characterization of a guanine nucleotide dissociation stimulator
            for a ras-related GTPase
  JOURNAL   EMBO J 12 (1), 339-347 (1993)
   PUBMED   8094051
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY002335.1, AF027169.1, BC059362.1 and BC033198.1.
            
            Summary: Guanine nucleotide dissociation stimulators (GDSs, or
            exchange factors), such as RALGDS, are effectors of Ras-related
            GTPases (see MIM 190020) that participate in signaling for a
            variety of cellular processes.[supplied by OMIM, Nov 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and 5'
            coding region and represents use of an alternate promoter, compared
            to variant 1. The encoded isoform (2) has a shorter and distinct
            N-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF027169.1, SRR7346977.1782981.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..859
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13-q34.2"
     Protein         1..859
                     /product="ral guanine nucleotide dissociation stimulator
                     isoform 2"
                     /note="ral guanine nucleotide exchange factor"
                     /calculated_mol_wt=94559
     Region          57..193
                     /region_name="RasGEFN"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     GTPases; N-terminal motif; smart00229"
                     /db_xref="CDD:214571"
     Site            order(76,136,140..141,144,147..148,185..186,189)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:100121"
     Region          <192..303
                     /region_name="GGN"
                     /note="Gametogenetin; pfam15685"
                     /db_xref="CDD:434857"
     Region          327..589
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases. Small GTP-binding proteins of the Ras
                     superfamily function as molecular switches in fundamental
                     events such as signal transduction, cytoskeleton dynamics
                     and intracellular trafficking; cd00155"
                     /db_xref="CDD:238087"
     Site            order(360..362,375..376,378..380,382..383,386..387,390,
                     425,428..429,431..433,435..438,440..441,461,464,469..471,
                     474,511..513,516..518,520..522,524..527,542,546,581,
                     584..585)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     Region          743..828
                     /region_name="RA_RalGDS"
                     /note="Ras-associating (RA) domain found in Ral guanine
                     nucleotide dissociation stimulator (RalGDS) and similar
                     proteins; cd17209"
                     /db_xref="CDD:340729"
     Site            order(743..746,748,755..763,767..768,776,779..780,782)
                     /site_type="other"
                     /note="RA-Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:340729"
     CDS             1..859
                     /gene="RALGDS"
                     /gene_synonym="RalGEF; RGDS; RGF"
                     /coded_by="NM_001042368.3:231..2810"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS43897.1"
                     /db_xref="GeneID:5900"
                     /db_xref="HGNC:HGNC:9842"
                     /db_xref="MIM:601619"
ORIGIN      
        1 mmvdcqsstq eigeelingv iysislrkvq lhhggnkgqr wlgyenesal nlyetckvrt
       61 vkagtleklv ehlvpafqgs dlsyvtiflc tyraftttqq vldllfkryg rcdaltassr
      121 ygcilpysde dggpqdqlkn aissilgtwl dqysedfcqp pdfpclkqlv ayvqlnmpgs
      181 dlerrahlll aqlehsepie aepealspvp alkptpelel altparapsp vpapapepep
      241 aptpapgsel evapapapel qqapepavgl esapapalel epapeqdpap sqtlelepap
      301 apvpslqpsw pspvvaengl seekphllvf ppdlvaeqft lmdaelfkkv vpyhclgsiw
      361 sqrdkkgkeh laptiratvt qfnsvancvi ttclgnrstk apdrarvveh wievarecri
      421 lknfsslyai lsalqsnsih rlkktwedvs rdsfrifqkl seifsdenny slsrellike
      481 gtskfatlem npkraqkrpk etgiiqgtvp ylgtfltdlv mldtamkdyl ygrlinfekr
      541 rkefeviaqi kllqsacnny siapdeqfga wfraverlse tesynlscel eppsesasnt
      601 lrtkkntaiv krwsdrqaps telstsgssh skscdqlrcg pylssgdiad alsvhsagss
      661 ssdveeinis fvpespdgqe kkfwesasqs spetsgissa ssstssssas ttpvaatrth
      721 krsvsglcns ssalplynqq vgdcciirvs ldvdngnmyk silvtsqdka pavirkamdk
      781 hnleeeeped yellqilsdd rklkipenan vfyamnstan ydfvlkkrtf tkgvkvkhga
      841 sstlprmkqk glkiakgif
//
LOCUS       NP_001317154             359 aa            linear   PRI 26-DEC-2022
DEFINITION  putative malate dehydrogenase 1B isoform e [Homo sapiens].
ACCESSION   NP_001317154 XP_016858863
VERSION     NP_001317154.1
DBSOURCE    REFSEQ: accession NM_001330225.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 359)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008269.4 and KF456757.1.
            On Aug 20, 2016 this sequence version replaced XP_016858863.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968189
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..359
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.3"
     Protein         1..359
                     /product="putative malate dehydrogenase 1B isoform e"
                     /EC_number="1.1.1.-"
                     /note="putative malate dehydrogenase 1B; malate
                     dehydrogenase 1B, NAD (soluble)"
                     /calculated_mol_wt=40374
     Region          <1..301
                     /region_name="NADB_Rossmann"
                     /note="Rossmann-fold NAD(P)(+)-binding proteins; cl21454"
                     /db_xref="CDD:451247"
     Site            order(11..12,56..57,77,98,100..101,124,127,156,219)
                     /site_type="other"
                     /note="NAD(P) binding site [chemical binding]"
                     /db_xref="CDD:133419"
     Site            order(18,22,24..25,27..29,130..131,133..134,140,221,225)
                     /site_type="other"
                     /note="LDH/MDH dimer interface [polypeptide binding]"
                     /db_xref="CDD:133419"
     Site            order(101,131,156)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:133419"
     CDS             1..359
                     /gene="MDH1B"
                     /gene_synonym="RP11-95H11"
                     /coded_by="NM_001330225.2:405..1484"
                     /note="isoform e is encoded by transcript variant 6"
                     /db_xref="GeneID:130752"
                     /db_xref="HGNC:HGNC:17836"
ORIGIN      
        1 mhteisitlf dnkqaeehlk slvvetqdla spvlrsvsic tkveeafrqa hvivvlddst
       61 nkevftledc lrsrvplcrl ygylieknah esvrvivggr tfvnlktvll mryapriahn
      121 iiavalgveg eakailarkl ktapsyikdv iiwgnisgnn yvdlrktrvy ryesaiwgpl
      181 hysrpvlnli fdsewvkref vailknlttt grqfggilaa hsiattlkyw yhgsppgeiv
      241 slgilsegqf gipkgivfsm pvkfengtwv vltdlkdvei seqimtrmts dliqeklval
      301 gdkihfqpyq sghkdlvpde eknlamsdae fpnqipqttf ekpqslefln efegktves
//
LOCUS       NP_001191826             242 aa            linear   PRI 26-DEC-2022
DEFINITION  transmembrane 4 L6 family member 19 isoform 2 [Homo sapiens].
ACCESSION   NP_001191826
VERSION     NP_001191826.1
DBSOURCE    REFSEQ: accession NM_001204897.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 242)
  AUTHORS   Luo M, Xie L, Su Y, Zhang K, Liang R, Ma Z and Li Y.
  TITLE     TM4SF19-AS1 facilitates the proliferation of lung squamous cell
            carcinoma by recruiting WDR5 to mediate TM4SF19
  JOURNAL   Mol Cell Probes 65, 101849 (2022)
   PUBMED   35987447
  REMARK    GeneRIF: TM4SF19-AS1 facilitates the proliferation of lung squamous
            cell carcinoma by recruiting WDR5 to mediate TM4SF19.
REFERENCE   2  (residues 1 to 242)
  AUTHORS   Ding L, Li LM, Hu B, Wang JL, Lu YB, Zhang RY, He X, Shi C, Wu LM,
            Wu CM, Yang B, Zheng L, Ping BH, Hu YW and Wang Q.
  TITLE     TM4SF19 aggravates LPS-induced attenuation of vascular endothelial
            cell adherens junctions by suppressing VE-cadherin expression
  JOURNAL   Biochem Biophys Res Commun 533 (4), 1204-1211 (2020)
   PUBMED   33059922
  REMARK    GeneRIF: TM4SF19 aggravates LPS-induced attenuation of vascular
            endothelial cell adherens junctions by suppressing VE-cadherin
            expression.
REFERENCE   3  (residues 1 to 242)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CA489370.1, BC171824.1,
            BP396791.1 and CA430273.1.
            
            Summary: The protein encoded by this gene is a member of the
            four-transmembrane L6 superfamily. Members of this family function
            in various cellular processes including cell proliferation,
            motility, and adhesion via their interactions with integrins. In
            human brain tissue, this gene is expressed at high levels in the
            parietal lobe, occipital lobe, hippocampus, pons, white matter,
            corpus callosum, and cerebellum. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, May 2017].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            that causes a frameshift in the 3' coding region, compared to
            variant 1. The encoded isoform (2) has a distinct C-terminus and is
            longer than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC171824.1, SRR5189661.34373.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2158569
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q29"
     Protein         1..242
                     /product="transmembrane 4 L6 family member 19 isoform 2"
                     /note="transmembrane 4 L6 family member 19; tetraspan
                     membrane protein OCTM4; osteoclast maturation-associated
                     gene 4 protein"
                     /calculated_mol_wt=25858
     Region          11..>148
                     /region_name="L6_membrane"
                     /note="L6 membrane protein; pfam05805"
                     /db_xref="CDD:428630"
     Site            17..37
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96DZ7.2)"
     Site            60..80
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96DZ7.2)"
     Site            94..114
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96DZ7.2)"
     Site            133
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96DZ7.2)"
     CDS             1..242
                     /gene="TM4SF19"
                     /gene_synonym="OCTM4"
                     /coded_by="NM_001204897.2:127..855"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:116211"
                     /db_xref="HGNC:HGNC:25167"
ORIGIN      
        1 mvsspctqas srtcsrilgl slgtaalfaa ganvalllpn wdvtyllrgl lgrhamlgtg
       61 lwggglmvlt aailislmgw rygcfsksgl crsvltalls gglallgali cfvtsgvalk
      121 dgpfcmfdvs sfnqtqawky gypfkdlhri icmtvrsgtp sawsplqlls gtcpssppfc
      181 asacssfsww sfmsstaswa fsaasarsdr qnlhlqawvf sssavlnpfy kewvriinkl
      241 pl
//
LOCUS       NP_001258751             390 aa            linear   PRI 26-DEC-2022
DEFINITION  serpin B6 isoform c [Homo sapiens].
ACCESSION   NP_001258751
VERSION     NP_001258751.1
DBSOURCE    REFSEQ: accession NM_001271822.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 390)
  AUTHORS   Mahmood U, Bukhari SA, Ali M, Ahmed ZM and Riazuddin S.
  TITLE     Identification of Hearing Loss-Associated Variants of PTPRQ,
            MYO15A, and SERPINB6 in Pakistani Families
  JOURNAL   Biomed Res Int 2021, 5584788 (2021)
   PUBMED   33997018
  REMARK    GeneRIF: Identification of Hearing Loss-Associated Variants of
            PTPRQ, MYO15A, and SERPINB6 in Pakistani Families.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 390)
  AUTHORS   Glavey SV, Naba A, Manier S, Clauser K, Tahri S, Park J, Reagan MR,
            Moschetta M, Mishima Y, Gambella M, Rocci A, Sacco A, O'Dwyer ME,
            Asara JM, Palumbo A, Roccaro AM, Hynes RO and Ghobrial IM.
  TITLE     Proteomic characterization of human multiple myeloma bone marrow
            extracellular matrix
  JOURNAL   Leukemia 31 (11), 2426-2434 (2017)
   PUBMED   28344315
REFERENCE   3  (residues 1 to 390)
  AUTHORS   Naba A, Pearce OMT, Del Rosario A, Ma D, Ding H, Rajeeve V,
            Cutillas PR, Balkwill FR and Hynes RO.
  TITLE     Characterization of the Extracellular Matrix of Normal and Diseased
            Tissues Using Proteomics
  JOURNAL   J Proteome Res 16 (8), 3083-3091 (2017)
   PUBMED   28675934
REFERENCE   4  (residues 1 to 390)
  AUTHORS   Barallobre-Barreiro J, Oklu R, Lynch M, Fava M, Baig F, Yin X,
            Barwari T, Potier DN, Albadawi H, Jahangiri M, Porter KE, Watkins
            MT, Misra S, Stoughton J and Mayr M.
  TITLE     Extracellular matrix remodelling in response to venous
            hypertension: proteomics of human varicose veins
  JOURNAL   Cardiovasc Res 110 (3), 419-430 (2016)
   PUBMED   27068509
REFERENCE   5  (residues 1 to 390)
  AUTHORS   Heit C, Jackson BC, McAndrews M, Wright MW, Thompson DC, Silverman
            GA, Nebert DW and Vasiliou V.
  TITLE     Update of the human and mouse SERPIN gene superfamily
  JOURNAL   Hum Genomics 7 (1), 22 (2013)
   PUBMED   24172014
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 390)
  AUTHORS   Sun J, Coughlin P, Salem HH and Bird P.
  TITLE     Production and characterization of recombinant human proteinase
            inhibitor 6 expressed in Pichia pastoris
  JOURNAL   Biochim Biophys Acta 1252 (1), 28-34 (1995)
   PUBMED   7548163
REFERENCE   7  (residues 1 to 390)
  AUTHORS   Coughlin P, Nicholl J, Sun J, Salem H, Bird P and Sutherland GR.
  TITLE     Chromosomal mapping of the human proteinase inhibitor 6 (PI6) gene
            to 6p25 by fluorescence in situ hybridization
  JOURNAL   Genomics 26 (2), 431-433 (1995)
   PUBMED   7601482
REFERENCE   8  (residues 1 to 390)
  AUTHORS   Morgenstern KA, Sprecher C, Holth L, Foster D, Grant FJ, Ching A
            and Kisiel W.
  TITLE     Complementary DNA cloning and kinetic characterization of a novel
            intracellular serine proteinase inhibitor: mechanism of action with
            trypsin and factor Xa as model proteinases
  JOURNAL   Biochemistry 33 (11), 3432-3441 (1994)
   PUBMED   8136380
REFERENCE   9  (residues 1 to 390)
  AUTHORS   Coughlin P, Sun J, Cerruti L, Salem HH and Bird P.
  TITLE     Cloning and molecular characterization of a human intracellular
            serine proteinase inhibitor
  JOURNAL   Proc Natl Acad Sci U S A 90 (20), 9417-9421 (1993)
   PUBMED   8415716
REFERENCE   10 (residues 1 to 390)
  AUTHORS   Morgenstern KA, Henzel WJ, Baker JB, Wong S, Pastuszyn A and Kisiel
            W.
  TITLE     Isolation and characterization of an intracellular serine
            proteinase inhibitor from a monkey kidney epithelial cell line
  JOURNAL   J Biol Chem 268 (29), 21560-21568 (1993)
   PUBMED   8408007
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133351.34, HY169891.1,
            CX782163.1 and BC001394.2.
            
            Summary: The protein encoded by this gene is a member of the serpin
            (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin
            subfamily. It was originally discovered as a placental thrombin
            inhibitor. The mouse homolog was found to be expressed in the hair
            cells of the inner ear. Mutations in this gene are associated with
            nonsyndromic progressive hearing loss, suggesting that this serpin
            plays an important role in the inner ear in the protection against
            leakage of lysosomal content during stress, and that loss of this
            protection results in cell death and sensorineural hearing loss.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Sep 2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.732556.1,
                                           SRR5189667.293895.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..390
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.2"
     Protein         1..390
                     /product="serpin B6 isoform c"
                     /note="protease inhibitor 6 (placental thrombin
                     inhibitor); serine (or cysteine) proteinase inhibitor,
                     clade B (ovalbumin), member 6; cytoplasmic antiproteinase;
                     serpin peptidase inhibitor, clade B (ovalbumin), member 6"
                     /calculated_mol_wt=43869
     Region          15..390
                     /region_name="serpinB6_CAP"
                     /note="serpin family B member 6, cytoplasmic
                     antiproteinase; cd19565"
                     /db_xref="CDD:381031"
     Site            order(338..356,358..368)
                     /site_type="other"
                     /note="reactive center loop (RCL)"
                     /db_xref="CDD:381031"
     CDS             1..390
                     /gene="SERPINB6"
                     /gene_synonym="CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3"
                     /coded_by="NM_001271822.2:420..1592"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="GeneID:5269"
                     /db_xref="HGNC:HGNC:8950"
                     /db_xref="MIM:173321"
ORIGIN      
        1 mgaaqslpgh rsaimdvlae angtfalnll ktlgkdnskn vffspmsmsc alamvymgak
       61 gntaaqmaqi lsfnksgggg dihqgfqsll tevnktgtqy llrmanrlfg ekscdflssf
      121 rdscqkfyqa emeeldfisa veksrkhint wvaektegki aellspgsvd pltrlvlvna
      181 vyfrgnwdeq fdkenteerl fkvskneekp vqmmfkqstf kktyigeift qilvlpyvgk
      241 elnmiimlpd ettdlrtvek eltyekfvew trldmmdeee vevslprfkl eesydmesvl
      301 rnlgmtdafe lgkadfsgms qtdlslskvv hksfvevnee gteaaaataa immmrcarfv
      361 prfcadhpfl ffiqhsktng ilfcgrfssp
//
LOCUS       NP_203125                303 aa            linear   PRI 27-DEC-2022
DEFINITION  caspase-7 isoform alpha precursor [Homo sapiens].
ACCESSION   NP_203125
VERSION     NP_203125.1
DBSOURCE    REFSEQ: accession NM_033339.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 303)
  AUTHORS   Desroches A and Denault JB.
  TITLE     Characterization of caspase-7 interaction with RNA
  JOURNAL   Biochem J 478 (13), 2681-2696 (2021)
   PUBMED   34156061
  REMARK    GeneRIF: Characterization of caspase-7 interaction with RNA.
REFERENCE   2  (residues 1 to 303)
  AUTHORS   Ruan Y, Zhang J, Mai S, Zeng W, Huang L, Gu C, Liu K, Ma Y and Wang
            Z.
  TITLE     Role of CASP7 polymorphisms in noise-induced hearing loss risk in
            Han Chinese population
  JOURNAL   Sci Rep 11 (1), 1803 (2021)
   PUBMED   33469117
  REMARK    GeneRIF: Role of CASP7 polymorphisms in noise-induced hearing loss
            risk in Han Chinese population.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 303)
  AUTHORS   Safdar M, Zaheer S, Khailany RA, Parvez S, Naveed M, Bhuiyan P,
            Ozaslan M, Moatasam R, Al-Attar MS, Khan MA and Junejo Y.
  TITLE     The Relevance of SNPs at 3'UTR Region of CASP7 and miR-371b-5p
            Associated Diseases: A Computational Analysis
  JOURNAL   Cell Biochem Biophys 78 (4), 541-557 (2020)
   PUBMED   32951155
  REMARK    GeneRIF: The Relevance of SNPs at 3'UTR Region of CASP7 and
            miR-371b-5p Associated Diseases: A Computational Analysis.
REFERENCE   4  (residues 1 to 303)
  AUTHORS   Poh J, Ponsford AH, Boyd J, Woodsmith J, Stelzl U, Wanker E, Harper
            N, MacEwan D and Sanderson CM.
  TITLE     A functionally defined high-density NRF2 interactome reveals new
            conditional regulators of ARE transactivation
  JOURNAL   Redox Biol 37, 101686 (2020)
   PUBMED   32911434
REFERENCE   5  (residues 1 to 303)
  AUTHORS   Riedl SJ, Fuentes-Prior P, Renatus M, Kairies N, Krapp S, Huber R,
            Salvesen GS and Bode W.
  TITLE     Structural basis for the activation of human procaspase-7
  JOURNAL   Proc Natl Acad Sci U S A 98 (26), 14790-14795 (2001)
   PUBMED   11752425
REFERENCE   6  (residues 1 to 303)
  AUTHORS   Tiso N, Pallavicini A, Muraro T, Zimbello R, Apolloni E, Valle G,
            Lanfranchi G and Danieli GA.
  TITLE     Chromosomal localization of the human genes, CPP32, Mch2, Mch3, and
            Ich-1, involved in cellular apoptosis
  JOURNAL   Biochem Biophys Res Commun 225 (3), 983-989 (1996)
   PUBMED   8780721
REFERENCE   7  (residues 1 to 303)
  AUTHORS   Lippke JA, Gu Y, Sarnecki C, Caron PR and Su MS.
  TITLE     Identification and characterization of CPP32/Mch2 homolog 1, a
            novel cysteine protease similar to CPP32
  JOURNAL   J Biol Chem 271 (4), 1825-1828 (1996)
   PUBMED   8567622
REFERENCE   8  (residues 1 to 303)
  AUTHORS   Fernandes-Alnemri T, Takahashi A, Armstrong R, Krebs J, Fritz L,
            Tomaselli KJ, Wang L, Yu Z, Croce CM, Salveson G et al.
  TITLE     Mch3, a novel human apoptotic cysteine protease highly related to
            CPP32
  JOURNAL   Cancer Res 55 (24), 6045-6052 (1995)
   PUBMED   8521391
REFERENCE   9  (residues 1 to 303)
  AUTHORS   Fernandes-Alnemri T, Litwack G and Alnemri ES.
  TITLE     CPP32, a novel human apoptotic protein with homology to
            Caenorhabditis elegans cell death protein Ced-3 and mammalian
            interleukin-1 beta-converting enzyme
  JOURNAL   J Biol Chem 269 (49), 30761-30764 (1994)
   PUBMED   7983002
REFERENCE   10 (residues 1 to 303)
  AUTHORS   Olson,R.E., Morello,J.A. and Kieff,E.D.
  TITLE     Antibiotic treatment of oral anaerobic infections
  JOURNAL   J Oral Surg 33 (8), 619-621 (1975)
   PUBMED   1056466
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U67206.1, BC015799.1 and
            BM976488.1.
            
            Summary: This gene encodes a member of the cysteine-aspartic acid
            protease (caspase) family. Sequential activation of caspases plays
            a central role in the execution-phase of cell apoptosis. Caspases
            exist as inactive proenzymes which undergo proteolytic processing
            at conserved aspartic residues to produce two subunits, large and
            small, that dimerize to form the active enzyme. The precursor of
            the encoded protein is cleaved by caspase 3 and 10, is activated
            upon cell death stimuli and induces apoptosis. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (c, also known as gamma) differs
            in the 5' UTR, lacks a portion of the 5' coding region and
            initiates translation at a downstream, in-frame start codon,
            compared to variant d. Variants a, c and e encode the same isoform
            (alpha), which has a shorter N-terminus compared to isoform delta.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U67206.1, SRR1803616.205951.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..303
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.3"
     Protein         1..303
                     /product="caspase-7 isoform alpha precursor"
                     /EC_number="3.4.22.60"
                     /note="caspase 7, apoptosis-related cysteine protease;
                     ICE-like apoptotic protease 3; apoptotic protease MCH-3;
                     caspase 7, apoptosis-related cysteine peptidase"
                     /calculated_mol_wt=34146
     Region          1..30
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P55210.1)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (P55210.1)"
     mat_peptide     24..198
                     /product="Caspase-7 subunit p20.
                     /evidence=ECO:0000305|PubMed:12824163,
                     ECO:0000305|PubMed:16916640, ECO:0000305|PubMed:23650375,
                     ECO:0000305|PubMed:27889207, ECO:0000305|PubMed:8755496.
                     /id=PRO_0000004617"
                     /note="propagated from UniProtKB/Swiss-Prot (P55210.1)"
                     /calculated_mol_wt=19719
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PAK2.
                     /evidence=ECO:0000269|PubMed:21555521,
                     ECO:0000269|PubMed:27889207; propagated from
                     UniProtKB/Swiss-Prot (P55210.1)"
     Site            36..37
                     /site_type="cleavage"
                     /note="Cleavage, by CAPN1.
                     /evidence=ECO:0000269|PubMed:19617626; propagated from
                     UniProtKB/Swiss-Prot (P55210.1)"
     Site            37
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P55210.1)"
     Region          38..41
                     /region_name="Exosite.
                     /evidence=ECO:0000269|PubMed:22451931,
                     ECO:0000269|PubMed:31586028, ECO:0000269|PubMed:34156061"
                     /note="propagated from UniProtKB/Swiss-Prot (P55210.1)"
     Site            45..46
                     /site_type="cleavage"
                     /note="Cleavage, by CAPN1.
                     /evidence=ECO:0000269|PubMed:19617626; propagated from
                     UniProtKB/Swiss-Prot (P55210.1)"
     Site            47..48
                     /site_type="cleavage"
                     /note="Cleavage, by CAPN1.
                     /evidence=ECO:0000269|PubMed:19617626; propagated from
                     UniProtKB/Swiss-Prot (P55210.1)"
     Region          60..301
                     /region_name="CASc"
                     /note="Caspase, interleukin-1 beta converting enzyme (ICE)
                     homologues; Cysteine-dependent aspartate-directed
                     proteases that mediate programmed cell death (apoptosis).
                     Caspases are synthesized as inactive zymogens and
                     activated by proteolysis of the peptide...; cd00032"
                     /db_xref="CDD:237997"
     Region          76..87
                     /region_name="Loop L1.
                     /evidence=ECO:0000303|PubMed:23897474"
                     /note="propagated from UniProtKB/Swiss-Prot (P55210.1)"
     Site            order(87,145,184,191,230..235,239..240)
                     /site_type="other"
                     /note="substrate pocket [chemical binding]"
                     /db_xref="CDD:237997"
     Site            order(144,186)
                     /site_type="active"
                     /db_xref="CDD:237997"
     Site            173
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PAK2.
                     /evidence=ECO:0000269|PubMed:21555521,
                     ECO:0000269|PubMed:27889207; propagated from
                     UniProtKB/Swiss-Prot (P55210.1)"
     Region          187..196
                     /region_name="Loop L2.
                     /evidence=ECO:0000303|PubMed:23897474"
                     /note="propagated from UniProtKB/Swiss-Prot (P55210.1)"
     Site            187
                     /site_type="other"
                     /note="Involved in allosteric regulation.
                     /evidence=ECO:0000269|PubMed:15314233,
                     ECO:0000269|PubMed:19581639; propagated from
                     UniProtKB/Swiss-Prot (P55210.1)"
     Site            order(192,215..216,223,226,229,252,260,266,286,291..292,
                     294,297..298)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:237997"
     Site            order(193,214)
                     /site_type="active"
                     /note="proteolytic cleavage site [active]"
                     /db_xref="CDD:237997"
     mat_peptide     207..303
                     /product="Caspase-7 subunit p11.
                     /evidence=ECO:0000305|PubMed:12824163,
                     ECO:0000305|PubMed:16916640, ECO:0000305|PubMed:27889207,
                     ECO:0000305|PubMed:8755496. /id=PRO_0000004619"
                     /note="propagated from UniProtKB/Swiss-Prot (P55210.1)"
                     /calculated_mol_wt=11338
     Site            223
                     /site_type="other"
                     /note="Involved in allosteric regulation.
                     /evidence=ECO:0000269|PubMed:15314233,
                     ECO:0000269|PubMed:19581639; propagated from
                     UniProtKB/Swiss-Prot (P55210.1)"
     Region          226..238
                     /region_name="Loop L3.
                     /evidence=ECO:0000303|PubMed:23897474"
                     /note="propagated from UniProtKB/Swiss-Prot (P55210.1)"
     Site            239
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PAK2.
                     /evidence=ECO:0000269|PubMed:21555521,
                     ECO:0000269|PubMed:27889207; propagated from
                     UniProtKB/Swiss-Prot (P55210.1)"
     Region          274..288
                     /region_name="Loop L4.
                     /evidence=ECO:0000303|PubMed:23897474"
                     /note="propagated from UniProtKB/Swiss-Prot (P55210.1)"
     CDS             1..303
                     /gene="CASP7"
                     /gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
                     /coded_by="NM_033339.5:142..1053"
                     /note="isoform alpha precursor is encoded by transcript
                     variant c"
                     /db_xref="CCDS:CCDS7581.1"
                     /db_xref="GeneID:840"
                     /db_xref="HGNC:HGNC:1508"
                     /db_xref="MIM:601761"
ORIGIN      
        1 maddqgciee qgvedsaned svdakpdrss fvpslfskkk knvtmrsikt trdrvptyqy
       61 nmnfeklgkc iiinnknfdk vtgmgvrngt dkdaealfkc frslgfdviv yndcscakmq
      121 dllkkaseed htnaacfaci llshgeenvi ygkdgvtpik dltahfrgdr cktllekpkl
      181 ffiqacrgte lddgiqadsg pindtdanpr ykipveadfl faystvpgyy swrspgrgsw
      241 fvqalcsile ehgkdleimq iltrvndrva rhfesqsddp hfhekkqipc vvsmltkely
      301 fsq
//
LOCUS       NP_001121685             476 aa            linear   PRI 27-DEC-2022
DEFINITION  WD repeat, SAM and U-box domain-containing protein 1 isoform 1
            [Homo sapiens].
ACCESSION   NP_001121685
VERSION     NP_001121685.1
DBSOURCE    REFSEQ: accession NM_001128213.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 476)
  AUTHORS   Marin I.
  TITLE     Ancient origin of animal U-box ubiquitin ligases
  JOURNAL   BMC Evol Biol 10, 331 (2010)
   PUBMED   20979629
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008277.4, AK129983.1, AL040518.1 and CB240898.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.7513.1, DRR138508.13167.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..476
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.2"
     Protein         1..476
                     /product="WD repeat, SAM and U-box domain-containing
                     protein 1 isoform 1"
                     /note="WD repeat, SAM and U-box domain-containing protein
                     1"
                     /calculated_mol_wt=52703
     Region          4..309
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Region          10..47
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9V3.4)"
     Site            order(11,27,31,37..38,52..53,71,75,81..82,94,96,113,118,
                     124..125,138,155,160,166..167,178..179,207,211,217..218,
                     237..238,255,260,266..267,279..280,298,302,308..309)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          16..52
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          52..91
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9V3.4)"
     Region          57..93
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          95..134
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9V3.4)"
     Region          101..135
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          137..176
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9V3.4)"
     Region          142..177
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          178..228
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9V3.4)"
     Region          183..236
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          237..276
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9V3.4)"
     Region          242..266
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          279..318
                     /region_name="WD 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9V3.4)"
     Region          284..326
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          328..399
                     /region_name="SAM_WDSUB1"
                     /note="SAM domain of WDSUB1 proteins; cd09505"
                     /db_xref="CDD:188904"
     Region          404..476
                     /region_name="U-box"
                     /note="U-box domain; pfam04564"
                     /db_xref="CDD:398320"
     Site            458
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8N9V3.4)"
     CDS             1..476
                     /gene="WDSUB1"
                     /gene_synonym="UBOX6; WDSAM1"
                     /coded_by="NM_001128213.2:369..1799"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2208.1"
                     /db_xref="GeneID:151525"
                     /db_xref="HGNC:HGNC:26697"
ORIGIN      
        1 mvklihtlad hgddvnccaf sfsllatcsl dktirlyslr dftelphspl kfhtyavhcc
       61 cfspsghila scstdgttvl wntengqmla vmeqpsgspv rvcqfspdst clasgaadgt
      121 vvlwnaqsyk lyrcgsvkdg slaacafspn gsffvtgssc gdltvwddkm rclhsekahd
      181 lgitccdfss qpvsdgeqgl qffrlascgq dcqvkiwivs fthilgfelk ykstlsghca
      241 pvlacafshd gqmlvsgsvd ksvivydtnt enilhtltqh tryvttcafa pntlllatgs
      301 mdktvniwqf dletlcqarr tehqlkqfte dwseedvstw lcaqdlkdlv gifkmnnidg
      361 kellnltkes laddlkiesl glrskvlrki eelrtkvksl ssgipdefic pitrelmkdp
      421 viasdgysye keamenwisk kkrtspmtnl vlpsavltpn rtlkmainrw lethqk
//
LOCUS       NP_001357042             571 aa            linear   PRI 28-DEC-2022
DEFINITION  zinc finger MYND domain-containing protein 11 isoform i [Homo
            sapiens].
ACCESSION   NP_001357042
VERSION     NP_001357042.1
DBSOURCE    REFSEQ: accession NM_001370113.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 571)
  AUTHORS   Devoucoux M, Fort V, Khelifi G, Xu J, Alerasool N, Galloy M, Wong
            N, Bourriquen G, Fradet-Turcotte A, Taipale M, Hope K, Hussein SMI
            and Cote J.
  TITLE     Oncogenic ZMYND11-MBTD1 fusion protein anchors the NuA4/TIP60
            histone acetyltransferase complex to the coding region of active
            genes
  JOURNAL   Cell Rep 39 (11), 110947 (2022)
   PUBMED   35705031
  REMARK    GeneRIF: Oncogenic ZMYND11-MBTD1 fusion protein anchors the
            NuA4/TIP60 histone acetyltransferase complex to the coding region
            of active genes.
REFERENCE   2  (residues 1 to 571)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (residues 1 to 571)
  AUTHORS   Zhu J, Du S, Zhang J, Huang G, Dong L, Ren E and Liu D.
  TITLE     microRNA-10a-5p from gastric cancer cell-derived exosomes enhances
            viability and migration of human umbilical vein endothelial cells
            by targeting zinc finger MYND-type containing 11
  JOURNAL   Bioengineered 13 (1), 496-507 (2022)
   PUBMED   34969361
  REMARK    GeneRIF: microRNA-10a-5p from gastric cancer cell-derived exosomes
            enhances viability and migration of human umbilical vein
            endothelial cells by targeting zinc finger MYND-type containing 11.
REFERENCE   4  (residues 1 to 571)
  AUTHORS   Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett
            A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert
            B, Huffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K,
            Moller RS, Nielsen JEK, Popp B, Quteineh L, Ronde G,
            Schonewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring
            PM, Tumer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA
            and Pal DK.
  TITLE     ZMYND11 variants are a novel cause of centrotemporal and
            generalised epilepsies with neurodevelopmental disorder
  JOURNAL   Clin Genet 100 (4), 412-429 (2021)
   PUBMED   34216016
  REMARK    GeneRIF: ZMYND11 variants are a novel cause of centrotemporal and
            generalised epilepsies with neurodevelopmental disorder.
REFERENCE   5  (residues 1 to 571)
  AUTHORS   Li J, Galbo PM Jr, Gong W, Storey AJ, Tsai YH, Yu X, Ahn JH, Guo Y,
            Mackintosh SG, Edmondson RD, Byrum SD, Farrar JE, He S, Cai L, Jin
            J, Tackett AJ, Zheng D and Wang GG.
  TITLE     ZMYND11-MBTD1 induces leukemogenesis through hijacking NuA4/TIP60
            acetyltransferase complex and a PWWP-mediated chromatin association
            mechanism
  JOURNAL   Nat Commun 12 (1), 1045 (2021)
   PUBMED   33594072
  REMARK    GeneRIF: ZMYND11-MBTD1 induces leukemogenesis through hijacking
            NuA4/TIP60 acetyltransferase complex and a PWWP-mediated chromatin
            association mechanism.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 571)
  AUTHORS   Ansieau S and Leutz A.
  TITLE     The conserved Mynd domain of BS69 binds cellular and oncoviral
            proteins through a common PXLXP motif
  JOURNAL   J Biol Chem 277 (7), 4906-4910 (2002)
   PUBMED   11733528
  REMARK    GeneRIF: the C-terminal Mynd domain of BS69 (amino acids 516-561)
            or Mynd domains of the Caenorhabditis elegans proteins Bra-1 and
            Bra-2 bind not only to E1A but also to the Epstein-Barr virus EBNA2
            oncoprotein and the Myc-related cellular protein MGA
REFERENCE   7  (residues 1 to 571)
  AUTHORS   Lo KW, Naisbitt S, Fan JS, Sheng M and Zhang M.
  TITLE     The 8-kDa dynein light chain binds to its targets via a conserved
            (K/R)XTQT motif
  JOURNAL   J Biol Chem 276 (17), 14059-14066 (2001)
   PUBMED   11148209
REFERENCE   8  (residues 1 to 571)
  AUTHORS   Masselink H and Bernards R.
  TITLE     The adenovirus E1A binding protein BS69 is a corepressor of
            transcription through recruitment of N-CoR
  JOURNAL   Oncogene 19 (12), 1538-1546 (2000)
   PUBMED   10734313
  REMARK    GeneRIF: The adenovirus E1A binding protein BS69 is a corepressor
            of transcription through recruitment of N-CoR.
REFERENCE   9  (residues 1 to 571)
  AUTHORS   Kurozumi K, Nishita M, Yamaguchi K, Fujita T, Ueno N and Shibuya H.
  TITLE     BRAM1, a BMP receptor-associated molecule involved in BMP
            signalling
  JOURNAL   Genes Cells 3 (4), 257-264 (1998)
   PUBMED   9663660
REFERENCE   10 (residues 1 to 571)
  AUTHORS   Hateboer G, Gennissen A, Ramos YF, Kerkhoven RM, Sonntag-Buck V,
            Stunnenberg HG and Bernards R.
  TITLE     BS69, a novel adenovirus E1A-associated protein that inhibits E1A
            transactivation
  JOURNAL   EMBO J 14 (13), 3159-3169 (1995)
   PUBMED   7621829
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL713922.12, AL731539.7,
            AL589988.7 and AL603831.23.
            
            Summary: The protein encoded by this gene was first identified by
            its ability to bind the adenovirus E1A protein. The protein
            localizes to the nucleus. It functions as a transcriptional
            repressor, and expression of E1A inhibits this repression.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (26), as well as variant 27,
            encodes isoform i.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.200662.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..571
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p15.3"
     Protein         1..571
                     /product="zinc finger MYND domain-containing protein 11
                     isoform i"
                     /note="zinc finger MYND domain-containing protein 11; bone
                     morphogenetic protein receptor-associated molecule 1;
                     adenovirus 5 E1A-binding protein"
                     /calculated_mol_wt=67276
     Region          113..227
                     /region_name="Bromodomain"
                     /note="Bromodomains are found in many chromatin-associated
                     proteins and in nuclear histone acetyltransferases. They
                     interact specifically with acetylated lysine; cl02556"
                     /db_xref="CDD:445827"
     Site            order(149,153,156,196,200,206)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99922"
     Region          244..328
                     /region_name="PWWP_BS69"
                     /note="PWWP domain found in protein BS69 and similar
                     proteins; cd20159"
                     /db_xref="CDD:438987"
     Site            order(246,250)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:438987"
     Site            order(256,258,305,307..308,313..314)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438987"
     Site            order(260,263,279)
                     /site_type="other"
                     /note="putative methyl-histone binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438987"
     Site            261..264
                     /site_type="other"
                     /note="PWWP sequence motif"
                     /db_xref="CDD:438987"
     Region          532..567
                     /region_name="zf-MYND"
                     /note="MYND finger; pfam01753"
                     /db_xref="CDD:426410"
     CDS             1..571
                     /gene="ZMYND11"
                     /gene_synonym="BRAM1; BS69; MRD30"
                     /coded_by="NM_001370113.2:424..2139"
                     /note="isoform i is encoded by transcript variant 26"
                     /db_xref="CCDS:CCDS91196.1"
                     /db_xref="GeneID:10771"
                     /db_xref="HGNC:HGNC:16966"
                     /db_xref="MIM:608668"
ORIGIN      
        1 marltkrrqa dtkaiqhlwa aieiirnqkq ianidritky msrvhgmhpk ettrqlslav
       61 kdglivetlt vgckgskagi eqegywlpgd eidwetenhd wycfechlpg evlicdlcfr
      121 vyhskclsde frlrdssspw qcpvcrsikk kntnkqemgt ylrfivsrmk erkvnegkyr
      181 syeefkadaq lllhntvify gadseqadia rmlykdtche ldelqlcknc fylsnarpdn
      241 wfcypcipnh elvwakmkgf gfwpakvmqk ednqvdvrff ghhhqrawip seniqditvn
      301 ihrlhvkrsm gwkkacdele lhqrflregr fwksknedrg eeeaessiss tsneqlkvtq
      361 eprakkgrrn qsvepkkeep epeteavsss qeiptmpqpi ekvsvstqtk klsassprml
      421 hrstqttndg vcqsmchdky tkifndfkdr mksdhkrete rvvrealekl rsemeeekrq
      481 avnkavanmq gemdrkckqv kekckeefve eikklatqhk qlisqtkkkq wcynceeeam
      541 yhccwntsyc sikcqqehwh aehkrtcrrk r
//
LOCUS       NP_001230693             253 aa            linear   PRI 28-DEC-2022
DEFINITION  rab GTPase-activating protein 1-like isoform D [Homo sapiens].
ACCESSION   NP_001230693 XP_003403466
VERSION     NP_001230693.1
DBSOURCE    REFSEQ: accession NM_001243764.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 253)
  AUTHORS   Grossmann A, Benlasfer N, Birth P, Hegele A, Wachsmuth F, Apelt L
            and Stelzl U.
  TITLE     Phospho-tyrosine dependent protein-protein interaction network
  JOURNAL   Mol Syst Biol 11 (3), 794 (2015)
   PUBMED   25814554
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 253)
  AUTHORS   Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G,
            Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U,
            McArdle WL, Quaye L, Koiranen M, Ikram MA, Lehtimaki T, Stam AH,
            Ligthart L, Wedenoja J, Dunham I, Neale BM, Palta P, Hamalainen E,
            Schurks M, Rose LM, Buring JE, Ridker PM, Steinberg S, Stefansson
            H, Jakobsson F, Lawlor DA, Evans DM, Ring SM, Farkkila M, Artto V,
            Kaunisto MA, Freilinger T, Schoenen J, Frants RR, Pelzer N, Weller
            CM, Zielman R, Heath AC, Madden PAF, Montgomery GW, Martin NG,
            Borck G, Gobel H, Heinze A, Heinze-Kuhn K, Williams FMK,
            Hartikainen AL, Pouta A, van den Ende J, Uitterlinden AG, Hofman A,
            Amin N, Hottenga JJ, Vink JM, Heikkila K, Alexander M,
            Muller-Myhsok B, Schreiber S, Meitinger T, Wichmann HE, Aromaa A,
            Eriksson JG, Traynor B, Trabzuni D, Rossin E, Lage K, Jacobs SBR,
            Gibbs JR, Birney E, Kaprio J, Penninx BW, Boomsma DI, van Duijn C,
            Raitakari O, Jarvelin MR, Zwart JA, Cherkas L, Strachan DP, Kubisch
            C, Ferrari MD, van den Maagdenberg AMJM, Dichgans M, Wessman M,
            Smith GD, Stefansson K, Daly MJ, Nyholt DR, Chasman D and Palotie
            A.
  CONSRTM   North American Brain Expression Consortium; UK Brain Expression
            Consortium
  TITLE     Genome-wide meta-analysis identifies new susceptibility loci for
            migraine
  JOURNAL   Nat Genet 45 (8), 912-917 (2013)
   PUBMED   23793025
REFERENCE   3  (residues 1 to 253)
  AUTHORS   Kim JH, Jung SH, Bae JS, Lee HS, Yim SH, Park SY, Bang SY, Hu HJ,
            Shin HD, Bae SC and Chung YJ.
  TITLE     Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with
            the risk of systemic lupus erythematosus in Korean women
  JOURNAL   Arthritis Rheum 65 (4), 1055-1063 (2013)
   PUBMED   23335107
  REMARK    GeneRIF: Deletion variants of RABGAP1L were found to be
            significantly associated with SLE in Korean women.
REFERENCE   4  (residues 1 to 253)
  AUTHORS   Olson JE, Wang X, Pankratz VS, Fredericksen ZS, Vachon CM, Vierkant
            RA, Cerhan JR and Couch FJ.
  TITLE     Centrosome-related genes, genetic variation, and risk of breast
            cancer
  JOURNAL   Breast Cancer Res Treat 125 (1), 221-228 (2011)
   PUBMED   20508983
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 253)
  AUTHORS   Oguri M, Kato K, Yokoi K, Yoshida T, Watanabe S, Metoki N, Yoshida
            H, Satoh K, Aoyagi Y, Nozawa Y and Yamada Y.
  TITLE     Assessment of a polymorphism of SDK1 with hypertension in Japanese
            Individuals
  JOURNAL   Am J Hypertens 23 (1), 70-77 (2010)
   PUBMED   19851296
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 253)
  AUTHORS   Ishibashi K, Kanno E, Itoh T and Fukuda M.
  TITLE     Identification and characterization of a novel Tre-2/Bub2/Cdc16
            (TBC) protein that possesses Rab3A-GAP activity
  JOURNAL   Genes Cells 14 (1), 41-52 (2009)
   PUBMED   19077034
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK316355.1, Z99127.2 and AA836500.1.
            On Aug 25, 2011 this sequence version replaced XP_003403466.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2059442.1,
                                           SRR14038196.578111.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..253
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.1"
     Protein         1..253
                     /product="rab GTPase-activating protein 1-like isoform D"
                     /note="TBC1 domain family, member 18; expressed in
                     hematopoietic cells, heart, liver (HLL); rab
                     GTPase-activating protein 1-like"
                     /calculated_mol_wt=28907
     Region          <12..>222
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          233..253
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (B7ZAP0.1)"
     CDS             1..253
                     /gene="RABGAP1L"
                     /gene_synonym="HHL; TBC1D18"
                     /coded_by="NM_001243764.2:170..931"
                     /note="isoform D is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS55662.1"
                     /db_xref="GeneID:9910"
                     /db_xref="HGNC:HGNC:24663"
                     /db_xref="MIM:609238"
ORIGIN      
        1 miensswsmt feerenrrlq easmrleqen ddlahelvts kialrndldq aedkadvlnk
       61 ellltkqrlv eteeekrkqe eetaqlkevf rkqlekaeye ikkttaiiae ykqicsqlst
      121 rlekqqaask eelevvkgkm mackhcsdif skegalklaa tgredqgiet ddekdslkkq
      181 lremelelaq tklqlveakc kiqelehqrg almneiqaak nswfsktlns iktatgtqpl
      241 qpapvtqppk est
//
LOCUS       NP_001333786             837 aa            linear   PRI 31-DEC-2022
DEFINITION  tuftelin-interacting protein 11 isoform 1 [Homo sapiens].
ACCESSION   NP_001333786
VERSION     NP_001333786.1
DBSOURCE    REFSEQ: accession NM_001346857.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 837)
  AUTHORS   Duchemin A, O'Grady T, Hanache S, Mereau A, Thiry M, Wacheul L,
            Michaux C, Perpete E, Hervouet E, Peixoto P, Ernst FGM, Audic Y,
            Dequiedt F, Lafontaine DLJ and Mottet D.
  TITLE     DHX15-independent roles for TFIP11 in U6 snRNA modification,
            U4/U6.U5 tri-snRNP assembly and pre-mRNA splicing fidelity
  JOURNAL   Nat Commun 12 (1), 6648 (2021)
   PUBMED   34789764
  REMARK    GeneRIF: DHX15-independent roles for TFIP11 in U6 snRNA
            modification, U4/U6.U5 tri-snRNP assembly and pre-mRNA splicing
            fidelity.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 837)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 837)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 837)
  AUTHORS   Sugis E, Dauvillier J, Leontjeva A, Adler P, Hindie V, Moncion T,
            Collura V, Daudin R, Loe-Mie Y, Herault Y, Lambert JC, Hermjakob H,
            Pupko T, Rain JC, Xenarios I, Vilo J, Simonneau M and Peterson H.
  TITLE     HENA, heterogeneous network-based data set for Alzheimer's disease
  JOURNAL   Sci Data 6 (1), 151 (2019)
   PUBMED   31413325
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 837)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (residues 1 to 837)
  AUTHORS   Wang HJ, Tannukit S, Wen X, Shapiro JL, Snead ML and Paine ML.
  TITLE     Using the yeast two-hybrid assay to discover protein partners for
            the leucine-rich amelogenin peptide and for tuftelin-interacting
            protein 11
  JOURNAL   Eur J Oral Sci 114 Suppl 1, 276-382 (2006)
   PUBMED   16674698
REFERENCE   7  (residues 1 to 837)
  AUTHORS   Wen X, Lei YP, Zhou YL, Okamoto CT, Snead ML and Paine ML.
  TITLE     Structural organization and cellular localization of
            tuftelin-interacting protein 11 (TFIP11)
  JOURNAL   Cell Mol Life Sci 62 (9), 1038-1046 (2005)
   PUBMED   15868102
  REMARK    GeneRIF: TFIP11 is a novel splicing factor and transfected
            TFIP11-GFP fusion protein was found to locate in a novel subnuclear
            TFIP body.
REFERENCE   8  (residues 1 to 837)
  AUTHORS   Jurica MS and Moore MJ.
  TITLE     Pre-mRNA splicing: awash in a sea of proteins
  JOURNAL   Mol Cell 12 (1), 5-14 (2003)
   PUBMED   12887888
  REMARK    Review article
REFERENCE   9  (residues 1 to 837)
  AUTHORS   Jurica MS, Licklider LJ, Gygi SR, Grigorieff N and Moore MJ.
  TITLE     Purification and characterization of native spliceosomes suitable
            for three-dimensional structural analysis
  JOURNAL   RNA 8 (4), 426-439 (2002)
   PUBMED   11991638
REFERENCE   10 (residues 1 to 837)
  AUTHORS   Paine CT, Paine ML, Luo W, Okamoto CT, Lyngstadaas SP and Snead ML.
  TITLE     A tuftelin-interacting protein (TIP39) localizes to the apical
            secretory pole of mouse ameloblasts
  JOURNAL   J Biol Chem 275 (29), 22284-22292 (2000)
   PUBMED   10806191
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z95115.1, Z99714.2 and
            AI468631.1.
            
            Summary: This gene encodes a protein component of the spliceosome
            that promotes the release of the lariat-intron during late-stage
            splicing through the recruitment of a pre-mRNA splicing factor
            called DEAH-box helicase 15. The encoded protein contains a G-patch
            domain, a hallmark of RNA-processing proteins, that binds DEAH-box
            helicase 15. This protein contains an atypical nuclear localization
            sequence as well as a nuclear speckle-targeting sequence, enabling
            it to localize to distinct speckled regions within the cell
            nucleus. Polymorphisms in this gene are associated with dental
            caries suggesting a role in amelogenesis. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Nov
            2016].
            
            Transcript Variant: This variant (3) uses an alternate splice site
            in the 5' UTR, compared to variant 1. Variants 1-6 encode the same
            isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.1723080.1,
                                           SRR14038191.4201292.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..837
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.1"
     Protein         1..837
                     /product="tuftelin-interacting protein 11 isoform 1"
                     /note="septin and tuftelin-interacting protein 1;
                     sip1/tuftelin interacting protein"
                     /calculated_mol_wt=96689
     Region          1..50
                     /region_name="Required for interaction with DHX15.
                     /evidence=ECO:0000269|PubMed:19103666"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBB9.1)"
     Region          1..21
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBB9.1)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5U2Y6; propagated from
                     UniProtKB/Swiss-Prot (Q9UBB9.1)"
     Region          23..104
                     /region_name="TIP_N"
                     /note="Tuftelin interacting protein N terminal; pfam12457"
                     /db_xref="CDD:432567"
     Region          53..72
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBB9.1)"
     Site            59
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UBB9.1)"
     Region          85..133
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBB9.1)"
     Site            98
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UBB9.1)"
     Site            144
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9UBB9.1)"
     Region          149..193
                     /region_name="G-patch"
                     /note="G-patch domain; pfam01585"
                     /db_xref="CDD:396249"
     Region          179..236
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBB9.1)"
     Site            210
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UBB9.1)"
     Region          397..666
                     /region_name="GCFC"
                     /note="GC-rich sequence DNA-binding factor-like protein;
                     pfam07842"
                     /db_xref="CDD:400273"
     Region          700..705
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBB9.1)"
     Region          710..734
                     /region_name="Required for nuclear speckle localization.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBB9.1)"
     CDS             1..837
                     /gene="TFIP11"
                     /gene_synonym="bK445C9.6; NTR1; Spp382; STIP; STIP-1;
                     TIP39"
                     /coded_by="NM_001346857.2:288..2801"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS13838.1"
                     /db_xref="GeneID:24144"
                     /db_xref="HGNC:HGNC:17165"
                     /db_xref="MIM:612747"
ORIGIN      
        1 mslshlyrdg egriddddde renfeitdwd lqnefnpnrq rhwqtkeeat ygvwaerdsd
       61 derpsfggkr ardysapvnf isaglkkgaa eeaeledsdd eekpvkqddf pkdfgprklk
      121 tggnfkpsqk gfaggtksfm dfgswerhtk gigqkllqkm gyvpgrglgk naqgiinpie
      181 akqrkgkgav gaygserttq smqdfpvvds eeeaeeefqk elsqwrkdps gskkkpkysy
      241 ktveelkakg riskkltapq kelsqvkvid mtgreqkvyy sysqishkhn vpddglplqs
      301 qqlpqsgkea kapgfalpel ehnlqllidl teqeiiqndr qlqyerdmvv nlfhelekmt
      361 evldheervi snlskvlemv eecerrmqpd csnpltldec arifetlqdk yyeeyrmsdr
      421 vdlavaivyp lmkeyfkewd plkdctygte iiskwkslle ndqllshggq dlsadafhrl
      481 iwevwmpfvr nivtqwqprn cdpmvdflds wvhiipvwil dnildqlifp klqkevenwn
      541 pltdtvpihs wihpwlplmq arleplyspi rsklssalqk whpsdssakl ilqpwkdvft
      601 pgsweafmvk nivpklgmcl gelvinphqq hmdafywvid wegmisvssl vgllekhffp
      661 kwlqvlcswl snspnyeeit kwylgwksmf sdqvlahpsv kdkfnealdi mnravssnvg
      721 aymqpgaren iaylthterr kdfqyeamqe rreaenmaqr gigvaassvp mnfkdlietk
      781 aeehnivfmp vigkrhegkq lytfgriviy idrgvvfvqg ektwvptslq slidmak
//
LOCUS       NP_001381225             194 aa            linear   PRI 31-DEC-2022
DEFINITION  schwannomin-interacting protein 1 isoform 11 [Homo sapiens].
ACCESSION   NP_001381225
VERSION     NP_001381225.1
DBSOURCE    REFSEQ: accession NM_001394296.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 194)
  AUTHORS   Elsaid MF, Chalhoub N, Ben-Omran T, Kamel H, Al Mureikhi M, Ibrahim
            K, Elizabeth Ross M and Abdel Aleem AK.
  TITLE     Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a
            neurodevelopmental brain malformation syndrome
  JOURNAL   Clin Genet 93 (2), 387-391 (2018)
   PUBMED   28787085
  REMARK    GeneRIF: This is the first report of a SCHIP1/IQCJ-SCHIP1 point
            mutation in humans associated with a neurological-developmental
            phenotype
REFERENCE   2  (residues 1 to 194)
  AUTHORS   Cole JB, Manyama M, Kimwaga E, Mathayo J, Larson JR, Liberton DK,
            Lukowiak K, Ferrara TM, Riccardi SL, Li M, Mio W, Prochazkova M,
            Williams T, Li H, Jones KL, Klein OD, Santorico SA, Hallgrimsson B
            and Spritz RA.
  TITLE     Genomewide Association Study of African Children Identifies
            Association of SCHIP1 and PDE8A with Facial Size and Shape
  JOURNAL   PLoS Genet 12 (8), e1006174 (2016)
   PUBMED   27560698
  REMARK    GeneRIF: SNPs within genes SCHIP1 and PDE8A were associated with
            measures of facial size in both the GWAS and replication cohorts
            and passed a stringent genomewide significance threshold adjusted
            for multiple testing of 34 correlated traits. For both SCHIP1 and
            PDE8A, we demonstrated clear expression in the developing mouse
            face by both whole-mount in situ hybridization and RNA-seq
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 194)
  AUTHORS   Papandreou MJ, Vacher H, Fache MP, Klingler E, Rueda-Boroni F,
            Ferracci G, Debarnot C, Piperoglou C, Garcia Del Cano G, Goutebroze
            L and Dargent B.
  TITLE     CK2-regulated schwannomin-interacting protein IQCJ-SCHIP-1
            association with AnkG contributes to the maintenance of the axon
            initial segment
  JOURNAL   J Neurochem 134 (3), 527-537 (2015)
   PUBMED   25950943
REFERENCE   4  (residues 1 to 194)
  AUTHORS   Perisic L, Rodriguez PQ, Hultenby K, Sun Y, Lal M, Betsholtz C,
            Uhlen M, Wernerson A, Hedin U, Pikkarainen T, Tryggvason K and
            Patrakka J.
  TITLE     Schip1 is a novel podocyte foot process protein that mediates actin
            cytoskeleton rearrangements and forms a complex with Nherf2 and
            ezrin
  JOURNAL   PLoS One 10 (3), e0122067 (2015)
   PUBMED   25807495
  REMARK    GeneRIF: Schip1 associates with the cortical actin cytoskeleton
            network and modulates its dynamics in response to PDGF signaling
            via interaction with the Nherf2/ezrin complex.
            Erratum:[PLoS One. 2015;10(5):e0126079. PMID: 25965062]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 194)
  CONSRTM   GENDEP Investigators; MARS Investigators; STAR*D Investigators
  TITLE     Common genetic variation and antidepressant efficacy in major
            depressive disorder: a meta-analysis of three genome-wide
            pharmacogenetic studies
  JOURNAL   Am J Psychiatry 170 (2), 207-217 (2013)
   PUBMED   23377640
REFERENCE   6  (residues 1 to 194)
  AUTHORS   Martin PM, Carnaud M, Garcia del Cano G, Irondelle M, Irinopoulou
            T, Girault JA, Dargent B and Goutebroze L.
  TITLE     Schwannomin-interacting protein-1 isoform IQCJ-SCHIP-1 is a late
            component of nodes of Ranvier and axon initial segments
  JOURNAL   J Neurosci 28 (24), 6111-6117 (2008)
   PUBMED   18550753
REFERENCE   7  (residues 1 to 194)
  AUTHORS   Hunt KA, Zhernakova A, Turner G, Heap GA, Franke L, Bruinenberg M,
            Romanos J, Dinesen LC, Ryan AW, Panesar D, Gwilliam R, Takeuchi F,
            McLaren WM, Holmes GK, Howdle PD, Walters JR, Sanders DS, Playford
            RJ, Trynka G, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens
            FM, O'Morain C, Kennedy NP, Kelleher D, Pennington DJ, Strachan DP,
            McArdle WL, Mein CA, Wapenaar MC, Deloukas P, McGinnis R, McManus
            R, Wijmenga C and van Heel DA.
  TITLE     Newly identified genetic risk variants for celiac disease related
            to the immune response
  JOURNAL   Nat Genet 40 (4), 395-402 (2008)
   PUBMED   18311140
REFERENCE   8  (residues 1 to 194)
  AUTHORS   Kwasnicka-Crawford DA, Carson AR and Scherer SW.
  TITLE     IQCJ-SCHIP1, a novel fusion transcript encoding a
            calmodulin-binding IQ motif protein
  JOURNAL   Biochem Biophys Res Commun 350 (4), 890-899 (2006)
   PUBMED   17045569
REFERENCE   9  (residues 1 to 194)
  AUTHORS   Goutebroze L, Der Sarkissian H, Brault E and Thomas G.
  TITLE     Assignment of the schwannomin-interacting protein 1 (SCHIP1) gene
            to human chromosome band 3q25 by in situ hybridization and with
            somatic cell hybrids
  JOURNAL   Cytogenet Cell Genet 94 (1-2), 96-97 (2001)
   PUBMED   11701967
  REMARK    GeneRIF: chromosome 3 mapping by in situ hybridization and somatic
            cell hybrids
REFERENCE   10 (residues 1 to 194)
  AUTHORS   Goutebroze L, Brault E, Muchardt C, Camonis J and Thomas G.
  TITLE     Cloning and characterization of SCHIP-1, a novel protein
            interacting specifically with spliced isoforms and naturally
            occurring mutant NF2 proteins
  JOURNAL   Mol Cell Biol 20 (5), 1699-1712 (2000)
   PUBMED   10669747
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC021654.25.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.113287.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142363, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..194
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.32-q25.33"
     Protein         1..194
                     /product="schwannomin-interacting protein 1 isoform 11"
                     /calculated_mol_wt=21580
     Region          28..185
                     /region_name="SCHIP-1"
                     /note="Schwannomin-interacting protein 1; pfam10148"
                     /db_xref="CDD:431089"
     CDS             1..194
                     /gene="SCHIP1"
                     /gene_synonym="SCHIP-1"
                     /coded_by="NM_001394296.1:227..811"
                     /note="isoform 11 is encoded by transcript variant 19"
                     /db_xref="GeneID:29970"
                     /db_xref="HGNC:HGNC:15678"
                     /db_xref="MIM:619206"
ORIGIN      
        1 mnldsdgmdd iisqessldm egnykkaqkn eresirqkla lgsffddgpg iytscsksgk
       61 pslssrlqsg mnlqicfvnd sgsdkdsdad dsktetsldt plspmlphmp hiseclmkrs
      121 lkptdlrdmt igqlqvivnd lhsqieslne elvqlllird elhteqdaml vdiedltrha
      181 esqqkhmaek mpak
//
LOCUS       NP_071503                103 aa            linear   PRI 31-DEC-2022
DEFINITION  T-cell leukemia translocation-altered gene protein [Homo sapiens].
ACCESSION   NP_071503
VERSION     NP_071503.1
DBSOURCE    REFSEQ: accession NM_022171.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 103)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 103)
  AUTHORS   Kotake S, Yago T, Kawamoto M and Nanke Y.
  TITLE     The role of T-cell leukemia translocation-associated gene protein
            in human tumorigenesis and osteoclastogenesis
  JOURNAL   J Biomed Biotechnol 2012, 675317 (2012)
   PUBMED   22174563
  REMARK    GeneRIF: TCTA protein has roles in lung cancer cell lines and human
            osteoclastogenesis [review]
            Review article
REFERENCE   3  (residues 1 to 103)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (residues 1 to 103)
  AUTHORS   Guey LT, Garcia-Closas M, Murta-Nascimento C, Lloreta J, Palencia
            L, Kogevinas M, Rothman N, Vellalta G, Calle ML, Marenne G, Tardon
            A, Carrato A, Garcia-Closas R, Serra C, Silverman DT, Chanock S,
            Real FX and Malats N.
  CONSRTM   EPICURO/Spanish Bladder Cancer Study investigators
  TITLE     Genetic susceptibility to distinct bladder cancer subphenotypes
  JOURNAL   Eur Urol 57 (2), 283-292 (2010)
   PUBMED   19692168
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 103)
  AUTHORS   Kotake S, Yago T, Kawamoto M and Nanke Y.
  TITLE     [Role of T-cell leukemia translocation-associated gene (TCTA)
            protein in human osteoclastogenesis]
  JOURNAL   Nihon Rinsho Meneki Gakkai Kaishi 32 (6), 466-471 (2009)
   PUBMED   20046013
  REMARK    GeneRIF: It expressed in synovial tissues from patients with RA and
            inhibits human osteoclastogenesis. (review)
            Review article
REFERENCE   6  (residues 1 to 103)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 103)
  AUTHORS   Kotake S, Nanke Y, Kawamoto M, Yago T, Udagawa N, Ichikawa N,
            Kobashigawa T, Saito S, Momohara S, Kamatani N and Yamanaka H.
  TITLE     T-cell leukemia translocation-associated gene (TCTA) protein is
            required for human osteoclastogenesis
  JOURNAL   Bone 45 (4), 627-639 (2009)
   PUBMED   19560569
  REMARK    GeneRIF: TCTA is a novel protein expressed in synovial tissues of
            rheumatoid arthritis that regulate human osteoclastogenesis.
REFERENCE   8  (residues 1 to 103)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   9  (residues 1 to 103)
  AUTHORS   Aplan PD, Johnson BE, Russell E, Chervinsky DS and Kirsch IR.
  TITLE     Cloning and characterization of TCTA, a gene located at the site of
            a t(1;3) translocation
  JOURNAL   Cancer Res 55 (9), 1917-1921 (1995)
   PUBMED   7728759
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104452.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: L41143.1, AK000824.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000273590.4/ ENSP00000273590.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..103
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..103
                     /product="T-cell leukemia translocation-altered gene
                     protein"
                     /note="T-cell leukemia translocation-associated gene
                     protein"
                     /calculated_mol_wt=11210
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P57738.1)"
     Site            9..26
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P57738.1)"
     Region          18..103
                     /region_name="T_cell_tran_alt"
                     /note="T-cell leukemia translocation-altered; pfam15128"
                     /db_xref="CDD:434482"
     Site            41..61
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P57738.1)"
     Region          71..103
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P57738.1)"
     Site            77
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P57738.1)"
     CDS             1..103
                     /gene="TCTA"
                     /coded_by="NM_022171.3:5..316"
                     /db_xref="CCDS:CCDS2796.1"
                     /db_xref="GeneID:6988"
                     /db_xref="HGNC:HGNC:11692"
                     /db_xref="MIM:600690"
ORIGIN      
        1 maeswsgqal qalpatvlga lgseflrewe aqdmrvtlfk llllwlvlsl lgiqlawgfy
       61 gntvtglyhr pglggqngst pdgsthfpsw emaaneplkt hre
//
LOCUS       NP_001381033             968 aa            linear   PRI 31-DEC-2022
DEFINITION  sodium/calcium exchanger 1 isoform B precursor [Homo sapiens].
ACCESSION   NP_001381033
VERSION     NP_001381033.1
DBSOURCE    REFSEQ: accession NM_001394104.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 968)
  AUTHORS   Liu K, Fan XE, Zhang L, Yang Y and Zhou XL.
  TITLE     Circ-NCX1 inhibits LPS-induced chondrocyte apoptosis by regulating
            the miR-133a/SIRT1 axis
  JOURNAL   Kaohsiung J Med Sci 38 (10), 992-1000 (2022)
   PUBMED   35894157
  REMARK    GeneRIF: Circ-NCX1 inhibits LPS-induced chondrocyte apoptosis by
            regulating the miR-133a/SIRT1 axis.
REFERENCE   2  (residues 1 to 968)
  AUTHORS   Wan H, Gao N, Lu W, Lu C, Chen J, Wang Y and Dong H.
  TITLE     NCX1 coupled with TRPC1 to promote gastric cancer via
            Ca2+/AKT/beta-catenin pathway
  JOURNAL   Oncogene 41 (35), 4169-4182 (2022)
   PUBMED   35882979
  REMARK    GeneRIF: NCX1 coupled with TRPC1 to promote gastric cancer via
            Ca(2+)/AKT/beta-catenin pathway.
REFERENCE   3  (residues 1 to 968)
  AUTHORS   Yong W, Deng S, Tan Y and Li S.
  TITLE     Circular RNA circSLC8A1 inhibits the proliferation and invasion of
            non-small cell lung cancer cells through targeting the miR-106b-5p
            /FOXJ3 axis
  JOURNAL   Cell Cycle 20 (24), 2597-2606 (2021)
   PUBMED   34724864
  REMARK    GeneRIF: Circular RNA circSLC8A1 inhibits the proliferation and
            invasion of non-small cell lung cancer cells through targeting the
            miR-106b-5p /FOXJ3 axis.
REFERENCE   4  (residues 1 to 968)
  AUTHORS   Xia Z, Wang C and Zhang H.
  TITLE     The downregulation of NCXs is positively correlated with the
            prognosis of stage II-IV colon cancer
  JOURNAL   World J Surg Oncol 19 (1), 177 (2021)
   PUBMED   34127021
  REMARK    GeneRIF: The downregulation of NCXs is positively correlated with
            the prognosis of stage II-IV colon cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 968)
  AUTHORS   Valsecchi V, Laudati G, Cuomo O, Sirabella R, Annunziato L and
            Pignataro G.
  TITLE     The hypoxia sensitive metal transcription factor MTF-1 activates
            NCX1 brain promoter and participates in remote postconditioning
            neuroprotection in stroke
  JOURNAL   Cell Death Dis 12 (5), 423 (2021)
   PUBMED   33931586
  REMARK    GeneRIF: The hypoxia sensitive metal transcription factor MTF-1
            activates NCX1 brain promoter and participates in remote
            postconditioning neuroprotection in stroke.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 968)
  AUTHORS   McDaniel LD, Lederer WJ, Kofuji P, Schulze DH, Kieval R and Schultz
            RA.
  TITLE     Mapping of the human cardiac Na+/Ca2+ exchanger gene (NCX1) by
            fluorescent in situ hybridization to chromosome region 2p22-->p23
  JOURNAL   Cytogenet Cell Genet 63 (3), 192-193 (1993)
   PUBMED   8485996
REFERENCE   7  (residues 1 to 968)
  AUTHORS   Kofuji P, Hadley RW, Kieval RS, Lederer WJ and Schulze DH.
  TITLE     Expression of the Na-Ca exchanger in diverse tissues: a study using
            the cloned human cardiac Na-Ca exchanger
  JOURNAL   Am J Physiol 263 (6 Pt 1), C1241-C1249 (1992)
   PUBMED   1476165
REFERENCE   8  (residues 1 to 968)
  AUTHORS   Komuro I, Wenninger KE, Philipson KD and Izumo S.
  TITLE     Molecular cloning and characterization of the human cardiac
            Na+/Ca2+ exchanger cDNA
  JOURNAL   Proc Natl Acad Sci U S A 89 (10), 4769-4773 (1992)
   PUBMED   1374913
REFERENCE   9  (residues 1 to 968)
  AUTHORS   Shieh BH, Xia Y, Sparkes RS, Klisak I, Lusis AJ, Nicoll DA and
            Philipson KD.
  TITLE     Mapping of the gene for the cardiac sarcolemmal Na(+)-Ca2+
            exchanger to human chromosome 2p21-p23
  JOURNAL   Genomics 12 (3), 616-617 (1992)
   PUBMED   1559714
REFERENCE   10 (residues 1 to 968)
  AUTHORS   Colvin RA, Bennett JW, Colvin SL, Allen RA, Martinez J and Miner
            GD.
  TITLE     Na+/Ca2+ exchange activity is increased in Alzheimer's disease
            brain tissues
  JOURNAL   Brain Res 543 (1), 139-147 (1991)
   PUBMED   1647256
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC106048.5, AC007281.3, AC007377.3 and AC007254.3.
            
            Summary: In cardiac myocytes, Ca(2+) concentrations alternate
            between high levels during contraction and low levels during
            relaxation. The increase in Ca(2+) concentration during contraction
            is primarily due to release of Ca(2+) from intracellular stores.
            However, some Ca(2+) also enters the cell through the sarcolemma
            (plasma membrane). During relaxation, Ca(2+) is sequestered within
            the intracellular stores. To prevent overloading of intracellular
            stores, the Ca(2+) that entered across the sarcolemma must be
            extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary
            mechanism by which the Ca(2+) is extruded from the cell during
            relaxation. In the heart, the exchanger may play a key role in
            digitalis action. The exchanger is the dominant mechanism in
            returning the cardiac myocyte to its resting state following
            excitation.[supplied by OMIM, Apr 2004].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AB209075.1, BC098308.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
                                                with N-terminal localization
                                                signal
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..968
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.1"
     Protein         1..968
                     /product="sodium/calcium exchanger 1 isoform B precursor"
                     /note="Na+/Ca++ exchanger; sodium/calcium exchanger 1;
                     Na+/Ca2+ exchanger; Na(+)/Ca(2+)-exchange protein 1;
                     solute carrier family 8 (sodium/calcium exchanger), member
                     1; solute carrier family 8 member 1"
                     /calculated_mol_wt=103936
     sig_peptide     1..35
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=4021
     Region          4..968
                     /region_name="caca"
                     /note="sodium/calcium exchanger 1; TIGR00845"
                     /db_xref="CDD:273296"
     Site            44
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P32418.3)"
     Site            75..95
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            137..157
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Region          141..181
                     /region_name="Alpha-1"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            160
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P32418.3)"
     Site            171..191
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            205..225
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            232..252
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Region          254..273
                     /region_name="Putative calmodulin-binding region.
                     /evidence=ECO:0000250|UniProtKB:P23685"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            285
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70414; propagated from
                     UniProtKB/Swiss-Prot (P32418.3)"
     Site            392
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70414, ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            796..816
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            820..840
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Region          837..873
                     /region_name="Alpha-2"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            870..890
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            902..922
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     Site            940..960
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P32418.3)"
     CDS             1..968
                     /gene="SLC8A1"
                     /gene_synonym="NCX1"
                     /coded_by="NM_001394104.1:247..3153"
                     /note="isoform B precursor is encoded by transcript
                     variant T"
                     /db_xref="CCDS:CCDS46265.1"
                     /db_xref="GeneID:6546"
                     /db_xref="HGNC:HGNC:11068"
                     /db_xref="MIM:182305"
ORIGIN      
        1 mynmrrlsls ptfsmgfhll vtvsllfshv dhviaeteme gegnetgect gsyyckkgvi
       61 lpiwepqdps fgdkiaratv yfvamvymfl gvsiiadrfm ssievitsqe keitikkpng
      121 ettkttvriw netvsnltlm algssapeil lsvievcghn ftagdlgpst ivgsaafnmf
      181 iiialcvyvv pdgetrkikh lrvffvtaaw sifaytwlyi ilsvispgvv evweglltff
      241 ffpicvvfaw vadrrllfyk yvykryragk qrgmiieheg drpsskteie mdgkvvnshv
      301 enfldgalvl evderdqdde earremaril kelkqkhpdk eieqlielan yqvlsqqqks
      361 rafyriqatr lmtgagnilk rhaadqarka vsmhevntev tendpvskif feqgtyqcle
      421 ncgtvaltii rrggdltntv fvdfrtedgt anagsdyeft egtvvfkpgd tqkeirvgii
      481 dddifeeden flvhlsnvkv sseasedgil eanhvstlac lgspstatvt ifdddhagif
      541 tfeepvthvs esigimevkv lrtsgargnv ivpyktiegt argggedfed tcgelefqnd
      601 eivktisvkv iddeeyeknk tffleigepr lvemsekkal llnelggfti tgqpvfrkvh
      661 arehpilstv itiadeyddk qpltskeeee rriaemgrpi lgehtklevi ieesyefkst
      721 vdklikktnl alvvgtnswr eqfieaitvs agedddddec geeklpscfd yvmhfltvfw
      781 kvlfafvppt eywngwacfi vsilmigllt afigdlashf gctiglkdsv tavvfvalgt
      841 svpdtfaskv aatqdqyada signvtgsna vnvflgigva wsiaaiyhaa ngeqfkvspg
      901 tlafsvtlft ifafinvgvl lyrrrpeigg elggprtakl ltsclfvllw llyiffssle
      961 aychikgf
//
LOCUS       NP_001362493             346 aa            linear   PRI 22-JAN-2023
DEFINITION  cAMP-dependent protein kinase catalytic subunit beta isoform 17
            [Homo sapiens].
ACCESSION   NP_001362493 XP_005271075
VERSION     NP_001362493.1
DBSOURCE    REFSEQ: accession NM_001375564.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 346)
  AUTHORS   Maimaitiaili Y, Fukumura Y, Hirabayashi K, Kinowaki Y, Naito Y,
            Saito A, Rong L, Nakahodo J and Yao T.
  TITLE     Investigation of -PRKACA/-PRKACB fusion genes in oncocytic tumors
            of the pancreatobiliary and other systems
  JOURNAL   Virchows Arch 481 (6), 865-876 (2022)
   PUBMED   36152045
  REMARK    GeneRIF: Investigation of -PRKACA/-PRKACB fusion genes in oncocytic
            tumors of the pancreatobiliary and other systems.
REFERENCE   2  (residues 1 to 346)
  AUTHORS   Huang Y, Feng L, Bao Y, Zhang Y, Liang J, Mao Q, Li J and Jiang C.
  TITLE     Expressing MLH1 in HCT116 cells increases cellular resistance to
            radiation by activating the PRKAC
  JOURNAL   Exp Biol Med (Maywood) 247 (5), 426-432 (2022)
   PUBMED   34787019
  REMARK    GeneRIF: Expressing MLH1 in HCT116 cells increases cellular
            resistance to radiation by activating the PRKAC.
REFERENCE   3  (residues 1 to 346)
  AUTHORS   Khamse S, Jafarian Z, Bozorgmehr A, Tavakoli M, Afshar H, Keshavarz
            M, Moayedi R and Ohadi M.
  TITLE     Novel implications of a strictly monomorphic (GCC) repeat in the
            human PRKACB gene
  JOURNAL   Sci Rep 11 (1), 20629 (2021)
   PUBMED   34667254
  REMARK    GeneRIF: Novel implications of a strictly monomorphic (GCC) repeat
            in the human PRKACB gene.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 346)
  AUTHORS   Jessulat M, Amin S, Hooshyar M, Malty R, Moutaoufik MT, Zilocchi M,
            Istace Z, Phanse S, Aoki H, Omidi K, Burnside D, Samanfar B, Aly
            KA, Golshani A and Babu M.
  TITLE     The conserved Tpk1 regulates non-homologous end joining
            double-strand break repair by phosphorylation of Nej1, a homolog of
            the human XLF
  JOURNAL   Nucleic Acids Res 49 (14), 8145-8160 (2021)
   PUBMED   34244791
  REMARK    GeneRIF: The conserved Tpk1 regulates non-homologous end joining
            double-strand break repair by phosphorylation of Nej1, a homolog of
            the human XLF.
REFERENCE   5  (residues 1 to 346)
  AUTHORS   Orstavik S, Reinton N, Frengen E, Langeland BT, Jahnsen T and
            Skalhegg BS.
  TITLE     Identification of novel splice variants of the human catalytic
            subunit Cbeta of cAMP-dependent protein kinase
  JOURNAL   Eur J Biochem 268 (19), 5066-5073 (2001)
   PUBMED   11589697
REFERENCE   6  (residues 1 to 346)
  AUTHORS   Hofmann B, Nishanian P, Nguyen T, Insixiengmay P and Fahey JL.
  TITLE     Human immunodeficiency virus proteins induce the inhibitory
            cAMP/protein kinase A pathway in normal lymphocytes
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6676-6680 (1993)
   PUBMED   7688126
REFERENCE   7  (residues 1 to 346)
  AUTHORS   Scarpetta MA and Uhler MD.
  TITLE     Evidence for two additional isoforms of the endogenous protein
            kinase inhibitor of cAMP-dependent protein kinase in mouse
  JOURNAL   J Biol Chem 268 (15), 10927-10931 (1993)
   PUBMED   7684369
REFERENCE   8  (residues 1 to 346)
  AUTHORS   Simard J, Berube D, Sandberg M, Grzeschik KH, Gagne R, Hansson V
            and Jahnsen T.
  TITLE     Assignment of the gene encoding the catalytic subunit C beta of
            cAMP-dependent protein kinase to the p36 band on chromosome 1
  JOURNAL   Hum Genet 88 (6), 653-657 (1992)
   PUBMED   1551670
REFERENCE   9  (residues 1 to 346)
  AUTHORS   Beebe SJ, Oyen O, Sandberg M, Froysa A, Hansson V and Jahnsen T.
  TITLE     Molecular cloning of a tissue-specific protein kinase (C gamma)
            from human testis--representing a third isoform for the catalytic
            subunit of cAMP-dependent protein kinase
  JOURNAL   Mol Endocrinol 4 (3), 465-475 (1990)
   PUBMED   2342480
REFERENCE   10 (residues 1 to 346)
  AUTHORS   Taylor SS, Buechler JA and Yonemoto W.
  TITLE     cAMP-dependent protein kinase: framework for a diverse family of
            regulatory enzymes
  JOURNAL   Annu Rev Biochem 59, 971-1005 (1990)
   PUBMED   2165385
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL450063.14.
            On Oct 29, 2019 this sequence version replaced XP_005271075.1.
            
            Summary: The protein encoded by this gene is a member of the
            serine/threonine protein kinase family. The encoded protein is a
            catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase,
            which mediates signalling though cAMP. cAMP signaling is important
            to a number of processes, including cell proliferaton and
            differentiation. Multiple alternatively spliced transcript variants
            encoding distinct isoforms have been observed. [provided by RefSeq,
            Jul 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.207017.1,
                                           SRR1803612.249258.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..346
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     Protein         1..346
                     /product="cAMP-dependent protein kinase catalytic subunit
                     beta isoform 17"
                     /EC_number="2.7.11.11"
                     /note="protein kinase A catalytic subunit beta; protein
                     kinase, cAMP-dependent, catalytic, beta; protein kinase,
                     cAMP-dependent, beta catalytic subunit"
                     /calculated_mol_wt=40013
     Region          37..326
                     /region_name="STKc_PKA"
                     /note="Catalytic subunit of the Serine/Threonine Kinase,
                     cAMP-dependent protein kinase; cd14209"
                     /db_xref="CDD:271111"
     Site            order(45..51,53,66,68,100,116..119,123,162,164,166..167,
                     169,179..180,323)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271111"
     Site            order(46..51,53,66,68,78,100,116..117,119,123,125,129,162,
                     164..167,169,179..180,183,194,196..199,226,230..232,
                     235..237,239,242,323,326)
                     /site_type="active"
                     /db_xref="CDD:271111"
     Site            order(47,49..50,78..80,123,125,129,162,164..166,183,
                     194..199,226,230..232,235..237,239,242..243,326)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271111"
     Site            order(49,79..80,82..83,123,125,129,164..166,183,190,
                     192..197,200,207..209,226,239..240,243..244,247,326)
                     /site_type="other"
                     /note="regulatory subunit interface [polypeptide binding]"
                     /db_xref="CDD:271111"
     Site            179..199
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271111"
     CDS             1..346
                     /gene="PRKACB"
                     /gene_synonym="CAFD2; PKA C-beta; PKACB"
                     /coded_by="NM_001375564.1:314..1354"
                     /note="isoform 17 is encoded by transcript variant 17"
                     /db_xref="GeneID:5567"
                     /db_xref="HGNC:HGNC:9381"
                     /db_xref="MIM:176892"
ORIGIN      
        1 msacssseis vkeflakake dflkkwenpt qnnagledfe rkktlgtgsf grvmlvkhka
       61 teqyyamkil dkqkvvklkq iehtlnekri lqavnfpflv rleyafkdns nlymvmeyvp
      121 ggemfshlrr igrfsephar fyaaqivltf eylhsldliy rdlkpenlli dhqgyiqvtd
      181 fgfakrvkgr twtlcgtpey lapeiilskg ynkavdwwal gvliyemaag yppffadqpi
      241 qiyekivsgk vrfpshfssd lkdllrnllq vdltkrfgnl kngvsdikth kwfattdwia
      301 iyqrkveapf ipkfrgsgdt snfddyeeed irvsitekca kefgef
//
LOCUS       NP_001159417             517 aa            linear   PRI 22-JAN-2023
DEFINITION  chloride channel protein ClC-Kb isoform 2 [Homo sapiens].
ACCESSION   NP_001159417 XP_003960949 XP_006710133
VERSION     NP_001159417.2
DBSOURCE    REFSEQ: accession NM_001165945.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 517)
  AUTHORS   Zhao Q, Xiang Q, Tan Y, Xiao X, Xie H, Wang H, Yang M and Liu S.
  TITLE     A novel CLCNKB variant in a Chinese family with classic Bartter
            syndrome and prenatal genetic diagnosis
  JOURNAL   Mol Genet Genomic Med 10 (10), e2027 (2022)
   PUBMED   35913199
  REMARK    GeneRIF: A novel CLCNKB variant in a Chinese family with classic
            Bartter syndrome and prenatal genetic diagnosis.
REFERENCE   2  (residues 1 to 517)
  AUTHORS   Mou L and Wu F.
  TITLE     Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an
            Inbred Chinese Pedigree
  JOURNAL   Genes (Basel) 12 (3), 369 (2021)
   PUBMED   33807568
  REMARK    GeneRIF: Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in
            an Inbred Chinese Pedigree.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 517)
  AUTHORS   Han Y, Cheng H, Shao S, Lang Y, Zhao X, Lin Y, Wang S, Shi X, Liu Z
            and Shao L.
  TITLE     Thirteen novel CLCNKB variants and genotype/phenotype association
            study in 42 Chinese patients with Bartter syndrome type 3
  JOURNAL   Endocrine 68 (1), 192-202 (2020)
   PUBMED   31834604
  REMARK    GeneRIF: Thirteen novel CLCNKB variants and genotype/phenotype
            association study in 42 Chinese patients with Bartter syndrome type
            3.
REFERENCE   4  (residues 1 to 517)
  AUTHORS   Bignon Y, Sakhi I, Bitam S, Bakouh N, Keck M, Frachon N, Paulais M,
            Planelles G, Teulon J and Andrini O.
  TITLE     Analysis of CLCNKB mutations at dimer-interface, calcium-binding
            site, and pore reveals a variety of functional alterations in
            ClC-Kb channel leading to Bartter syndrome
  JOURNAL   Hum Mutat 41 (4), 774-785 (2020)
   PUBMED   31803959
  REMARK    GeneRIF: Analysis of CLCNKB mutations at dimer-interface,
            calcium-binding site, and pore reveals a variety of functional
            alterations in ClC-Kb channel leading to Bartter syndrome.
REFERENCE   5  (residues 1 to 517)
  AUTHORS   Zhu B, Jiang H, Cao M, Zhao X and Jiang H.
  TITLE     A novel CLCNKB mutation in a Chinese girl with classic Bartter
            syndrome: a case report
  JOURNAL   BMC Med Genet 20 (1), 137 (2019)
   PUBMED   31409296
  REMARK    GeneRIF: Bartter syndrome (BS) is a rare autosomal recessive
            disorder of salt reabsorption at the thick ascending limb of the
            Henle loop, characterized by hypokalemia, salt loss, metabolic
            alkalosis, hyperreninemic hyperaldosteronism with normal blood
            pressure. BS type III, often known as classic BS (CBS), is caused
            by loss-of-function mutations in CLCNKB (chloride voltage-gated
            channel Kb) encoding basolateral ClC-Kb.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 517)
  AUTHORS   Konrad M, Vollmer M, Lemmink HH, VAN DEN Heuvel LPWJ, Jeck N,
            Vargas-Poussou R, Lakings A, Ruf R, Deschenes G, Antignac C,
            Guay-Woodford L, Knoers NVAM, Seyberth HW, Feldmann D and
            Hildebrandt F.
  TITLE     Mutations in the chloride channel gene CLCNKB as a cause of classic
            Bartter syndrome
  JOURNAL   J Am Soc Nephrol 11 (8), 1449-1459 (2000)
   PUBMED   10906158
REFERENCE   7  (residues 1 to 517)
  AUTHORS   Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E,
            Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A,
            Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, Brem
            A, Trachtman H, Griswold W, Richard GA, John E and Lifton RP.
  TITLE     Mutations in the chloride channel gene, CLCNKB, cause Bartter's
            syndrome type III
  JOURNAL   Nat Genet 17 (2), 171-178 (1997)
   PUBMED   9326936
REFERENCE   8  (residues 1 to 517)
  AUTHORS   Saito-Ohara F, Uchida S, Takeuchi Y, Sasaki S, Hayashi A, Marumo F
            and Ikeuchi T.
  TITLE     Assignment of the genes encoding the human chloride channels,
            CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ
            hybridization
  JOURNAL   Genomics 36 (2), 372-374 (1996)
   PUBMED   8812470
REFERENCE   9  (residues 1 to 517)
  AUTHORS   Takeuchi Y, Uchida S, Marumo F and Sasaki S.
  TITLE     Cloning, tissue distribution, and intrarenal localization of ClC
            chloride channels in human kidney
  JOURNAL   Kidney Int 48 (5), 1497-1503 (1995)
   PUBMED   8544406
REFERENCE   10 (residues 1 to 517)
  AUTHORS   Kieferle S, Fong P, Bens M, Vandewalle A and Jentsch TJ.
  TITLE     Two highly homologous members of the ClC chloride channel family in
            both rat and human kidney
  JOURNAL   Proc Natl Acad Sci U S A 91 (15), 6943-6947 (1994)
   PUBMED   8041726
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA424588.1, DA369686.1,
            AK098217.1 and AL355994.11.
            On or before Feb 19, 2014 this sequence version replaced
            XP_006710133.1, XP_003960949.1, NP_001159417.1.
            
            Summary: The protein encoded by this gene is a member of the family
            of voltage-gated chloride channels. Chloride channels have several
            functions, including the regulation of cell volume, membrane
            potential stabilization, signal transduction and transepithelial
            transport. This gene is expressed predominantly in the kidney and
            may be important for renal salt reabsorption. Mutations in this
            gene are associated with autosomal recessive Bartter syndrome type
            3 (BS3). Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Sep 2009].
            
            Transcript Variant: This variant (2) has a different 5' UTR, uses
            an alternate splice site in the 3' coding region, and initiates
            translation from a different start codon compared to variant 1.
            This results in a shorter isoform (2) with a distinct N-terminus
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK098217.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..517
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     Protein         1..517
                     /product="chloride channel protein ClC-Kb isoform 2"
                     /note="chloride channel protein ClC-Kb; chloride channel,
                     kidney, B; chloride channel, voltage-sensitive Kb"
                     /calculated_mol_wt=56867
     Region          <50..365
                     /region_name="Voltage_gated_ClC"
                     /note="CLC voltage-gated chloride channel. The ClC
                     chloride channels catalyse the selective flow of Cl- ions
                     across cell membranes, thereby regulating electrical
                     excitation in skeletal muscle and the flow of salt and
                     water across epithelial barriers. This...; cl02915"
                     /db_xref="CDD:445960"
     Site            order(57,68,75,310,313,321,333,340..341)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:238233"
     Region          377..506
                     /region_name="CBS_pair_voltage-gated_CLC_euk_bac"
                     /note="Two tandem repeats of the cystathionine
                     beta-synthase (CBS pair) domains associated with the
                     voltage gated CLC (chloride channel) in eukaryotes and
                     bacteria; cd04591"
                     /db_xref="CDD:341367"
     Site            order(383,385..387,409..411,485,497,499,501..502,505)
                     /site_type="other"
                     /note="ligand binding site II [chemical binding]"
                     /db_xref="CDD:341367"
     Region          383..457
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341367"
     Site            order(409,424,428..429,432,463,485..487,501)
                     /site_type="other"
                     /note="putative ligand binding site I [chemical binding]"
                     /db_xref="CDD:341367"
     Region          463..505
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341367"
     CDS             1..517
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /coded_by="NM_001165945.2:211..1764"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS57974.1"
                     /db_xref="GeneID:1188"
                     /db_xref="HGNC:HGNC:2027"
                     /db_xref="MIM:602023"
ORIGIN      
        1 mpcppllsvp vraageqdrw vreevtwggg ptvtggwgwr ahlrsvsppg vlfsievmss
       61 hfsvwdywrg ffaatcgafm frllavfnse qetitslykt sfrvdvpfdl peifffvalg
      121 glcgilgsay lfcqriffgf irnnrfsskl latskpvysa latlvlasit yppsagrfla
      181 srlsmkqhld slfdnhswal mtqnssppwp eeldpqhlww ewyhprftif gtlafflvmk
      241 fwmlilatti pmpagyfmpi fvygaaigrl fgetlsfifp egivaggitn pimpggyala
      301 gaaafsgavt htistallaf evtgqivhal pvlmavlaan aiaqscqpsf ydgtvivkkl
      361 pylprilgrn igshrvrveh fmnhsittla kdmpleevvk vvtstdvaky plvestesqi
      421 lvgivrraql vqalkaepps wapghqclqd ilaagcptep vtlklspets lheahnlfel
      481 lnlhslfvts rgravgcvsw vemkkaisnl tnppapk
//
LOCUS       NP_001358406             300 aa            linear   PRI 29-JAN-2023
DEFINITION  geranylgeranyl pyrophosphate synthase isoform A [Homo sapiens].
ACCESSION   NP_001358406
VERSION     NP_001358406.1
DBSOURCE    REFSEQ: accession NM_001371477.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 300)
  AUTHORS   Muehlebach ME and Holstein SA.
  TITLE     Geranylgeranyl diphosphate synthase: Role in human health, disease
            and potential therapeutic target
  JOURNAL   Clin Transl Med 13 (1), e1167 (2023)
   PUBMED   36650113
  REMARK    GeneRIF: Geranylgeranyl diphosphate synthase: Role in human health,
            disease and potential therapeutic target.
            Review article
REFERENCE   2  (residues 1 to 300)
  AUTHORS   Kaiyrzhanov R, Perry L, Rocca C, Zaki MS, Hosny H, Araujo Martins
            Moreno C, Phadke R, Zaharieva I, Camelo Gontijo C, Beetz C, Pini V,
            Movahedinia M, Zanoteli E, DiTroia S, Vuillaumier-Barrot S, Isapof
            A, Mehrjardi MYV, Ghasemi N, Sarkozy A, Muntoni F, Whalen S, Vona
            B, Houlden H and Maroofian R.
  TITLE     GGPS1-associated muscular dystrophy with and without hearing loss
  JOURNAL   Ann Clin Transl Neurol 9 (9), 1465-1474 (2022)
   PUBMED   35869884
  REMARK    GeneRIF: GGPS1-associated muscular dystrophy with and without
            hearing loss.
REFERENCE   3  (residues 1 to 300)
  AUTHORS   Wang Z, Chen M, Pan X, Wang L, Yin C, Lin Q, Jiang J, Zhang Y and
            Wan B.
  TITLE     Knockout of GGPPS1 restrains rab37-mediated autophagy in response
            to ventilator-induced lung injury
  JOURNAL   Hum Cell 35 (3), 871-884 (2022)
   PUBMED   35334098
  REMARK    GeneRIF: Knockout of GGPPS1 restrains rab37-mediated autophagy in
            response to ventilator-induced lung injury.
REFERENCE   4  (residues 1 to 300)
  AUTHORS   Zhou W, van Rooij JGJ, Ebeling PR, Verkerk AJMH and Zillikens MC.
  TITLE     The Genetics of Atypical Femur Fractures-a Systematic Review
  JOURNAL   Curr Osteoporos Rep 19 (2), 123-130 (2021)
   PUBMED   33587247
  REMARK    GeneRIF: The Genetics of Atypical Femur Fractures-a Systematic
            Review.
REFERENCE   5  (residues 1 to 300)
  AUTHORS   Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H, Straub
            V, Voit T, Romero N, Donkervoort S, Hu Y, Markello T, Horn A,
            Qebibo L, Dastgir J, Meilleur KG, Finkel RS, Fan Y, Mamchaoui K,
            Duguez S, Nelson I, Laporte J, Santi M, Malfatti E, Maisonobe T,
            Touraine P, Hirano M, Hughes I, Bushby K, Oppermann U, Bohm J,
            Jaiswal JK, Stojkovic T and Bonnemann CG.
  TITLE     GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian
            Insufficiency Syndrome
  JOURNAL   Ann Neurol 88 (2), 332-347 (2020)
   PUBMED   32403198
  REMARK    GeneRIF: GGPS1 Mutations Cause Muscular Dystrophy/Hearing
            Loss/Ovarian Insufficiency Syndrome.
REFERENCE   6  (residues 1 to 300)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   7  (residues 1 to 300)
  AUTHORS   Kainou T, Kawamura K, Tanaka K, Matsuda H and Kawamukai M.
  TITLE     Identification of the GGPS1 genes encoding geranylgeranyl
            diphosphate synthases from mouse and human
  JOURNAL   Biochim Biophys Acta 1437 (3), 333-340 (1999)
   PUBMED   10101267
REFERENCE   8  (residues 1 to 300)
  AUTHORS   Kuzuguchi T, Morita Y, Sagami I, Sagami H and Ogura K.
  TITLE     Human geranylgeranyl diphosphate synthase. cDNA cloning and
            expression
  JOURNAL   J Biol Chem 274 (9), 5888-5894 (1999)
   PUBMED   10026212
REFERENCE   9  (residues 1 to 300)
  AUTHORS   Ericsson J, Greene JM, Carter KC, Shell BK, Duan DR, Florence C and
            Edwards PA.
  TITLE     Human geranylgeranyl diphosphate synthase: isolation of the cDNA,
            chromosomal mapping and tissue expression
  JOURNAL   J Lipid Res 39 (9), 1731-1739 (1998)
   PUBMED   9741684
REFERENCE   10 (residues 1 to 300)
  AUTHORS   Ericsson J, Runquist M, Thelin A, Andersson M, Chojnacki T and
            Dallner G.
  TITLE     Distribution of prenyltransferases in rat tissues. Evidence for a
            cytosolic all-trans-geranylgeranyl diphosphate synthase
  JOURNAL   J Biol Chem 268 (2), 832-838 (1993)
   PUBMED   8419360
  REMARK    GeneRIF: Evidence for a non-membrane bound isoform of
            geranylgeranyl diphosphate synthase 1 in rat.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL391994.28 and BC067768.1.
            
            Summary: This gene is a member of the prenyltransferase family and
            encodes a protein with geranylgeranyl diphosphate (GGPP) synthase
            activity. The enzyme catalyzes the synthesis of GGPP from farnesyl
            diphosphate and isopentenyl diphosphate. GGPP is an important
            molecule responsible for the C20-prenylation of proteins and for
            the regulation of a nuclear hormone receptor. Alternate
            transcriptional splice variants, both protein-coding and
            non-protein-coding, have been found for this gene. [provided by
            RefSeq, Sep 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC067768.1, SRR5189667.246265.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..300
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.3"
     Protein         1..300
                     /product="geranylgeranyl pyrophosphate synthase isoform A"
                     /EC_number="2.5.1.1"
                     /EC_number="2.5.1.10"
                     /EC_number="2.5.1.29"
                     /note="geranylgeranyl pyrophosphate synthase; GGPPSase;
                     GGPP synthase; geranyltranstransferase;
                     farnesyltranstransferase; dimethylallyltranstransferase;
                     farnesyl diphosphate synthase; (2E,6E)-farnesyl
                     diphosphate synthase"
                     /calculated_mol_wt=34740
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O95749.1)"
     Region          9..250
                     /region_name="polyprenyl_synt"
                     /note="Polyprenyl synthetase; pfam00348"
                     /db_xref="CDD:425626"
     Site            order(56,59..61,63..65,67..68,73..74,126,129,151..152,155,
                     188..189,192,202,207,212)
                     /site_type="other"
                     /note="substrate binding pocket [chemical binding]"
                     /db_xref="CDD:173833"
     Site            59..68
                     /site_type="active"
                     /note="chain length determination region [active]"
                     /db_xref="CDD:173833"
     Site            order(64..65,68,73..74,129,151,188..189,192,202,207,212)
                     /site_type="active"
                     /note="substrate-Mg2+ binding site [active]"
                     /db_xref="CDD:173833"
     Site            order(64..65,68,73..74,151,188..189)
                     /site_type="active"
                     /note="catalytic residues [active]"
                     /db_xref="CDD:173833"
     Site            order(64..65,68,73..74,129,151)
                     /site_type="other"
                     /note="aspartate-rich region 1"
                     /db_xref="CDD:173833"
     Site            order(70..84,195..196,202..207,210..214)
                     /site_type="active"
                     /note="active site lid residues [active]"
                     /db_xref="CDD:173833"
     Site            order(188..189,192,202,207,212)
                     /site_type="other"
                     /note="aspartate-rich region 2"
                     /db_xref="CDD:173833"
     CDS             1..300
                     /gene="GGPS1"
                     /gene_synonym="GGPPS; GGPPS1; MDHLO; MUDHLOV"
                     /coded_by="NM_001371477.1:307..1209"
                     /note="isoform A is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS1604.1"
                     /db_xref="GeneID:9453"
                     /db_xref="HGNC:HGNC:4249"
                     /db_xref="MIM:606982"
ORIGIN      
        1 mektqetvqr illepykyll qlpgkqvrtk lsqafnhwlk vpedklqiii evtemlhnas
       61 lliddiedns klrrgfpvah siygipsvin sanyvyflgl ekvltldhpd avklftrqll
      121 elhqgqgldi ywrdnytcpt eeeykamvlq ktgglfglav glmqlfsdyk edlkpllntl
      181 glffqirddy anlhskeyse nksfcedlte gkfsfptiha iwsrpestqv qnilrqrten
      241 idikkycvhy ledvgsfeyt rntlkeleak aykqidargg npelvalvkh lskmfkeene
//
LOCUS       NP_003007                221 aa            linear   PRI 10-MAR-2023
DEFINITION  serine/arginine-rich splicing factor 2 [Homo sapiens].
ACCESSION   NP_003007
VERSION     NP_003007.2
DBSOURCE    REFSEQ: accession NM_003016.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 221)
  AUTHORS   Tashakori M, Khoury JD, Routbort MJ, Patel KP, Wang SA, Ok CY,
            El-Hussein S, Kanagal-Shamanna R, Luthra R, Hu S, Lin P, Pemmaraju
            N, Bose P, Verstovsek S, Bueso-Ramos CE, Medeiros LJ and Loghavi S.
  TITLE     Clinicopathologic spectrum of myeloid neoplasms with concurrent
            myeloproliferative neoplasm driver mutations and SRSF2 mutations
  JOURNAL   Mod Pathol 35 (11), 1677-1683 (2022)
   PUBMED   35690645
  REMARK    GeneRIF: Clinicopathologic spectrum of myeloid neoplasms with
            concurrent myeloproliferative neoplasm driver mutations and SRSF2
            mutations.
REFERENCE   2  (residues 1 to 221)
  AUTHORS   Xu JJ, Chalk AM, Nikolic I, Simpson KJ, Smeets MF and Walkley CR.
  TITLE     Genome-wide screening identifies cell-cycle control as a synthetic
            lethal pathway with SRSF2P95H mutation
  JOURNAL   Blood Adv 6 (7), 2092-2106 (2022)
   PUBMED   34464972
  REMARK    GeneRIF: Genome-wide screening identifies cell-cycle control as a
            synthetic lethal pathway with SRSF2P95H mutation.
REFERENCE   3  (residues 1 to 221)
  AUTHORS   Kundinger SR, Dammer EB, Yin L, Hurst C, Shapley S, Ping L,
            Khoshnevis S, Ghalei H, Duong DM and Seyfried NT.
  TITLE     Phosphorylation regulates arginine-rich RNA-binding protein
            solubility and oligomerization
  JOURNAL   J Biol Chem 297 (5), 101306 (2021)
   PUBMED   34673031
  REMARK    GeneRIF: Phosphorylation regulates arginine-rich RNA-binding
            protein solubility and oligomerization.
REFERENCE   4  (residues 1 to 221)
  AUTHORS   Grimm J, Jentzsch M, Bill M, Backhaus D, Brauer D, Kupper J, Schulz
            J, Franke GN, Vucinic V, Niederwieser D, Platzbecker U and Schwind
            S.
  TITLE     Clinical implications of SRSF2 mutations in AML patients undergoing
            allogeneic stem cell transplantation
  JOURNAL   Am J Hematol 96 (10), 1287-1294 (2021)
   PUBMED   34289154
  REMARK    GeneRIF: Clinical implications of SRSF2 mutations in AML patients
            undergoing allogeneic stem cell transplantation.
REFERENCE   5  (residues 1 to 221)
  AUTHORS   Chen Z, Chen H, Yang L, Li X and Wang Z.
  TITLE     CircPLCE1 facilitates the malignant progression of colorectal
            cancer by repressing the SRSF2-dependent PLCE1 pre-RNA splicing
  JOURNAL   J Cell Mol Med 25 (15), 7244-7256 (2021)
   PUBMED   34173324
  REMARK    GeneRIF: CircPLCE1 facilitates the malignant progression of
            colorectal cancer by repressing the SRSF2-dependent PLCE1 pre-RNA
            splicing.
REFERENCE   6  (residues 1 to 221)
  AUTHORS   Sureau A, Soret J, Vellard M, Crochet J and Perbal B.
  TITLE     The PR264/c-myb connection: expression of a splicing factor
            modulated by a nuclear protooncogene
  JOURNAL   Proc Natl Acad Sci U S A 89 (24), 11683-11687 (1992)
   PUBMED   1465383
REFERENCE   7  (residues 1 to 221)
  AUTHORS   Zahler AM, Lane WS, Stolk JA and Roth MB.
  TITLE     SR proteins: a conserved family of pre-mRNA splicing factors
  JOURNAL   Genes Dev 6 (5), 837-847 (1992)
   PUBMED   1577277
REFERENCE   8  (residues 1 to 221)
  AUTHORS   Fu XD and Maniatis T.
  TITLE     Isolation of a complementary DNA that encodes the mammalian
            splicing factor SC35
  JOURNAL   Science 256 (5056), 535-538 (1992)
   PUBMED   1373910
REFERENCE   9  (residues 1 to 221)
  AUTHORS   Vellard M, Sureau A, Soret J, Martinerie C and Perbal B.
  TITLE     A potential splicing factor is encoded by the opposite strand of
            the trans-spliced c-myb exon
  JOURNAL   Proc Natl Acad Sci U S A 89 (7), 2511-2515 (1992)
   PUBMED   1557353
REFERENCE   10 (residues 1 to 221)
  AUTHORS   DuBridge,R.B., Tang,P., Hsia,H.C., Leong,P.M., Miller,J.H. and
            Calos,M.P.
  TITLE     Analysis of mutation in human cells by using an Epstein-Barr virus
            shuttle system
  JOURNAL   Mol Cell Biol 7 (1), 379-387 (1987)
   PUBMED   3031469
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC361254.1, DA513281.1,
            BC070086.1 and AC005837.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 16, 2004 this sequence version replaced NP_003007.1.
            
            Summary: The protein encoded by this gene is a member of the
            serine/arginine (SR)-rich family of pre-mRNA splicing factors,
            which constitute part of the spliceosome. Each of these factors
            contains an RNA recognition motif (RRM) for binding RNA and an RS
            domain for binding other proteins. The RS domain is rich in serine
            and arginine residues and facilitates interaction between different
            SR splicing factors. In addition to being critical for mRNA
            splicing, the SR proteins have also been shown to be involved in
            mRNA export from the nucleus and in translation. Two transcript
            variants encoding the same protein and one non-coding transcript
            variant have been found for this gene. In addition, a pseudogene of
            this gene has been found on chromosome 11. [provided by RefSeq, Sep
            2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 and 2 both encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC070086.1, CT001502.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2149398
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..221
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     Protein         1..221
                     /product="serine/arginine-rich splicing factor 2"
                     /note="SR splicing factor 2; splicing factor,
                     arginine/serine-rich 2; splicing factor SC35; splicing
                     component, 35 kDa"
                     /calculated_mol_wt=25345
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine. /evidence=ECO:0000269|Ref.10,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (Q01130.4)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q01130.4)"
     Region          16..88
                     /region_name="RRM_SRSF2_SRSF8"
                     /note="RNA recognition motif (RRM) found in
                     serine/arginine-rich splicing factor SRSF2, SRSF8 and
                     similar proteins; cd12311"
                     /db_xref="CDD:409751"
     Site            22
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q01130.4)"
     Site            25
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q01130.4)"
     Site            26
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q01130.4)"
     Site            52
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:21157427; propagated from
                     UniProtKB/Swiss-Prot (Q01130.4)"
     Region          92..221
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01130.4)"
     Site            189
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q01130.4)"
     Site            191
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q01130.4)"
     Site            204
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q01130.4)"
     Site            206
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q01130.4)"
     Site            208
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q01130.4)"
     Site            212
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q01130.4)"
     Site            220
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q01130.4)"
     CDS             1..221
                     /gene="SRSF2"
                     /gene_synonym="PR264; SC-35; SC35; SFRS2; SFRS2A; SRp30b"
                     /coded_by="NM_003016.4:252..917"
                     /db_xref="CCDS:CCDS11749.1"
                     /db_xref="GeneID:6427"
                     /db_xref="HGNC:HGNC:10783"
                     /db_xref="MIM:600813"
ORIGIN      
        1 msygrpppdv egmtslkvdn ltyrtspdtl rrvfekygrv gdvyiprdry tkesrgfafv
       61 rfhdkrdaed amdamdgavl dgrelrvqma rygrppdshh srrgppprry ggggygrrsr
      121 sprrrrrsrs rsrsrsrsrs rsrysrsksr srtrsrsrst sksrsarrsk sksssvsrsr
      181 srsrsrsrsr spppvskres ksrsrskspp kspeeegavs s
//
LOCUS       NP_001092874            2016 aa            linear   PRI 18-MAR-2023
DEFINITION  sodium channel protein type 5 subunit alpha isoform c [Homo
            sapiens].
ACCESSION   NP_001092874
VERSION     NP_001092874.1
DBSOURCE    REFSEQ: accession NM_001099404.2
KEYWORDS    RefSeq; MANE Plus Clinical.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2016)
  AUTHORS   Zhu J, Shen Y, Xiong H, Zha H, Zhang L, Peng H and Tian L.
  TITLE     Identification of a novel missense SCN5A mutation in a Chinese Han
            family with Brugada syndrome
  JOURNAL   Biochem Biophys Res Commun 649, 55-61 (2023)
   PUBMED   36745970
  REMARK    GeneRIF: Identification of a novel missense SCN5A mutation in a
            Chinese Han family with Brugada syndrome.
REFERENCE   2  (residues 1 to 2016)
  AUTHORS   Chen GX, Barajas-Martinez H, Ciconte G, Wu CI, Monasky MM, Xia H,
            Li B, Capra JA, Guo K, Zhang ZH, Chen X, Yang B, Jiang H, Tse G,
            Mak CM, Aizawa Y, Gollob MH, Antzelevitch C, Wilde AAM, Pappone C
            and Hu D.
  TITLE     Clinical characteristics and electrophysiologic properties of SCN5A
            variants in fever-induced Brugada syndrome
  JOURNAL   EBioMedicine 87, 104388 (2023)
   PUBMED   36516610
  REMARK    GeneRIF: Clinical characteristics and electrophysiologic properties
            of SCN5A variants in fever-induced Brugada syndrome.
REFERENCE   3  (residues 1 to 2016)
  AUTHORS   Goktas Sahoglu S, Kazci YE, Tuncay E, Torun T, Akdeniz C, Tuzcu V
            and Cagavi E.
  TITLE     Functional evaluation of the tachycardia patient-derived iPSC
            cardiomyocytes carrying a novel pathogenic SCN5A variant
  JOURNAL   J Cell Physiol 237 (10), 3900-3911 (2022)
   PUBMED   35959596
  REMARK    GeneRIF: Functional evaluation of the tachycardia patient-derived
            iPSC cardiomyocytes carrying a novel pathogenic SCN5A variant.
REFERENCE   4  (residues 1 to 2016)
  AUTHORS   Lopes-Marques M, Silva R, Serrano C, Gomes V, Cardoso A, Prata MJ,
            Amorim A and Azevedo L.
  TITLE     Complex interactions between p.His558Arg and linked variants in the
            sodium voltage-gated channel alpha subunit 5 (Na V 1.5)
  JOURNAL   PeerJ 10, e13913 (2022)
   PUBMED   35996667
  REMARK    GeneRIF: Complex interactions between p.His558Arg and linked
            variants in the sodium voltage-gated channel alpha subunit 5 (Na V
            1.5).
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 2016)
  AUTHORS   George AL Jr, Varkony TA, Drabkin HA, Han J, Knops JF, Finley WH,
            Brown GB, Ward DC and Haas M.
  TITLE     Assignment of the human heart tetrodotoxin-resistant voltage-gated
            Na+ channel alpha-subunit gene (SCN5A) to band 3p21
  JOURNAL   Cytogenet Cell Genet 68 (1-2), 67-70 (1995)
   PUBMED   7956363
REFERENCE   6  (residues 1 to 2016)
  AUTHORS   Jiang C, Atkinson D, Towbin JA, Splawski I, Lehmann MH, Li H,
            Timothy K, Taggart RT, Schwartz PJ, Vincent GM et al.
  TITLE     Two long QT syndrome loci map to chromosomes 3 and 7 with evidence
            for further heterogeneity
  JOURNAL   Nat Genet 8 (2), 141-147 (1994)
   PUBMED   7842012
REFERENCE   7  (residues 1 to 2016)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301690
REFERENCE   8  (residues 1 to 2016)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
REFERENCE   9  (residues 1 to 2016)
  AUTHORS   Alders,M., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301308
REFERENCE   10 (residues 1 to 2016)
  AUTHORS   Gellens ME, George AL Jr, Chen LQ, Chahine M, Horn R, Barchi RL and
            Kallen RG.
  TITLE     Primary structure and functional expression of the human cardiac
            tetrodotoxin-insensitive voltage-dependent sodium channel
  JOURNAL   Proc Natl Acad Sci U S A 89 (2), 554-558 (1992)
   PUBMED   1309946
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP006241.1, BU845010.1,
            AB158469.2, AY038064.1, AF482988.1, EF629346.1 and AB208866.1.
            
            Summary: The protein encoded by this gene is an integral membrane
            protein and tetrodotoxin-resistant voltage-gated sodium channel
            subunit. This protein is found primarily in cardiac muscle and is
            responsible for the initial upstroke of the action potential in an
            electrocardiogram. Defects in this gene have been associated with
            long QT syndrome type 3 (LQT3), atrial fibrillation,
            cardiomyopathy, and Brugada syndrome 1, all autosomal dominant
            cardiac diseases. Alternative splicing results in several
            transcript variants encoding different isoforms. [provided by
            RefSeq, May 2022].
            
            Transcript Variant: This variant (3), also known as hB1, uses an
            alternate, duplicated coding exon compared to transcript variant 1,
            resulting in an isoform (c) of the same size, but differing in a
            few internal aa compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AB158469.2, EF629346.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1968189,
                                    SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000413689.6/ ENSP00000410257.1
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2016
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     Protein         1..2016
                     /product="sodium channel protein type 5 subunit alpha
                     isoform c"
                     /note="cardiac tetrodotoxin-insensitive voltage-dependent
                     sodium channel alpha subunit; sodium channel protein type
                     5 subunit alpha; voltage-gated sodium channel subunit
                     alpha Nav1.5; sodium channel protein cardiac muscle
                     subunit alpha; sodium channel, voltage-gated, type V,
                     alpha subunit"
                     /calculated_mol_wt=226812
     Region          28..56
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            36
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            38
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Region          113..420
                     /region_name="I. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Region          130..423
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Site            132..150
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            158..178
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            214
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            217..233
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            253..272
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            283
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            288
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            291
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            318
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            328
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            390..410
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            457
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            460
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Region          461..591
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            483
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            484
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            486
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P15389; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            497
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Region          507..667
                     /region_name="Na_trans_cytopl"
                     /note="Cytoplasmic domain of voltage-gated Na+ ion
                     channel; pfam11933"
                     /db_xref="CDD:432199"
     Site            510
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            513
                     /site_type="methylation"
                     /note="Dimethylated arginine, alternate.
                     /evidence=ECO:0000269|PubMed:21726068;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0000269|PubMed:21726068; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            526
                     /site_type="methylation"
                     /note="Dimethylated arginine, alternate.
                     /evidence=ECO:0000269|PubMed:21726068;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0000269|PubMed:21726068; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            539
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JJV9; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            571
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            664
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            667
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            680
                     /site_type="methylation"
                     /note="Dimethylated arginine, alternate.
                     /evidence=ECO:0000269|PubMed:21726068;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0000269|PubMed:21726068; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Region          699..969
                     /region_name="II. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Region          716..927
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Site            718..736
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            740
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            748..767
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            782..801
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            803
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            804..821
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            838..856
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            864
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            918..938
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Region          953..1200
                     /region_name="Na_trans_assoc"
                     /note="Sodium ion transport-associated; pfam06512"
                     /db_xref="CDD:428983"
     Region          1005..1141
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Region          1187..1501
                     /region_name="III. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Region          1204..1479
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Site            1207..1224
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            1238..1256
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            1271..1289
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            1298..1316
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            1334..1353
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            1365
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            1374
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            1380
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            1388
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            1445..1466
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Region          1471..1523
                     /region_name="Na_channel_gate"
                     /note="Inactivation gate of the voltage-gated sodium
                     channel alpha subunits; cd13433"
                     /db_xref="CDD:240441"
     Site            1485..1488
                     /site_type="other"
                     /note="putative hydrophobic latch"
                     /db_xref="CDD:240441"
     Site            1503
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000305|PubMed:19666841; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Region          1510..1807
                     /region_name="IV. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Region          1528..1782
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Site            1530..1547
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            1559..1577
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            1590..1607
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            1621..1637
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            1657..1674
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Site            1736
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2)"
     Site            1749..1771
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Region          1839..1901
                     /region_name="Interaction with FGF13.
                     /evidence=ECO:0000269|PubMed:22705208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Region          1959..2016
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     Region          1974..1977
                     /region_name="Interaction with NEDD4, NEDD4L and WWP2.
                     /evidence=ECO:0000269|PubMed:15548568"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2)"
     CDS             1..2016
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /coded_by="NM_001099404.2:210..6260"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS46799.1"
                     /db_xref="GeneID:6331"
                     /db_xref="HGNC:HGNC:10593"
                     /db_xref="MIM:600163"
ORIGIN      
        1 manfllprgt ssfrrftres laaiekrmae kqargsttlq esreglpeee aprpqldlqa
       61 skklpdlygn ppqeligepl edldpfystq ktfivlnkgk tifrfsatna lyvlspfhpi
      121 rraavkilvh slfnmlimct iltncvfmaq hdpppwtkyv eytftaiytf eslvkilarg
      181 fclhaftflr dpwnwldfsv iimayvseni klgnlsalrt frvlralkti svipglktiv
      241 galiqsvkkl advmvltvfc lsvfaliglq lfmgnlrhkc vrnftalngt ngsveadglv
      301 wesldlylsd penyllkngt sdvllcgnss dagtcpegyr clkagenpdh gytsfdsfaw
      361 aflalfrlmt qdcwerlyqq tlrsagkiym iffmlviflg sfylvnlila vvamayeeqn
      421 qatiaeteek ekrfqeamem lkkehealti rgvdtvsrss lemsplapvn sherrskrrk
      481 rmssgteecg edrlpksdse dgpramnhls ltrglsrtsm kprssrgsif tfrrrdlgse
      541 adfaddenst ageseshhts llvpwplrrt saqgqpspgt sapghalhgk knstvdcngv
      601 vsllgagdpe atspgshllr pvmlehppdt ttpseepggp qmltsqapcv dgfeepgarq
      661 ralsavsvlt saleeleesr hkcppcwnrl aqryliwecc plwmsikqgv klvvmdpftd
      721 ltitmcivln tlfmalehyn mtsefeemlq vgnlvftgif taemtfkiia ldpyyyfqqg
      781 wnifdsiivi lslmelglsr msnlsvlrsf rllrvfklak swptlntlik iignsvgalg
      841 nltlvlaiiv fifavvgmql fgknyselrd sdsgllprwh mmdffhafli ifrilcgewi
      901 etmwdcmevs gqslcllvfl lvmvignlvv lnlflallls sfsadnltap dedremnnlq
      961 lalariqrgl rfvkrttwdf ccgllrqrpq kpaalaaqgq lpsciatpys ppppetekvp
     1021 ptrketrfee geqpgqgtpg dpepvcvpia vaesdtddqe edeenslgte eesskqqesq
     1081 pvsggpeapp dsrtwsqvsa tasseaeasa sqadwrqqwk aepqapgcge tpedscsegs
     1141 tadmtntael leqipdlgqd vkdpedcfte gcvrrcpcca vdttqapgkv wwrlrktcyh
     1201 ivehswfetf iifmillssg alafediyle erktikvlle yadkmftyvf vlemllkwva
     1261 ygfkkyftna wcwldflivd vslvslvant lgfaemgpik slrtlralrp lralsrfegm
     1321 rvvvnalvga ipsimnvllv clifwlifsi mgvnlfagkf grcinqtegd lplnytivnn
     1381 ksqceslnlt gelywtkvkv nfdnvgagyl allqvatfkg wmdimyaavd srgyeeqpqw
     1441 eynlymyiyf vifiifgsff tlnlfigvii dnfnqqkkkl ggqdifmtee qkkyynamkk
     1501 lgskkpqkpi prplnkyqgf ifdivtkqaf dvtimflicl nmvtmmvetd dqspekinil
     1561 akinllfvai ftgecivkla alrhyyftns wnifdfvvvi lsivgtvlsd iiqkyffspt
     1621 lfrvirlari grilrlirga kgirtllfal mmslpalfni glllflvmfi ysifgmanfa
     1681 yvkweagidd mfnfqtfans mlclfqitts agwdgllspi lntgppycdp tlpnsngsrg
     1741 dcgspavgil ffttyiiisf livvnmyiai ilenfsvate esteplsedd fdmfyeiwek
     1801 fdpeatqfie ysvlsdfada lseplriakp nqislinmdl pmvsgdrihc mdilfaftkr
     1861 vlgesgemda lkiqmeekfm aanpskisye pitttlrrkh eevsamviqr afrrhllqrs
     1921 lkhasflfrq qagsglseed aperegliay vmsenfsrpl gppssssiss tsfppsydsv
     1981 tratsdnlqv rgsdyshsed ladfppspdr dresiv
//
LOCUS       NP_001372480             627 aa            linear   PRI 18-MAR-2023
DEFINITION  caprin-2 isoform 36 [Homo sapiens].
ACCESSION   NP_001372480
VERSION     NP_001372480.1
DBSOURCE    REFSEQ: accession NM_001385551.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 627)
  AUTHORS   Ma B, Zhang W, Wang X, Jiang H, Tang L, Yang W, Kang Q and Cao J.
  TITLE     Polymorphisms in TRIB2 and CAPRIN2 Genes Contribute to the
            Susceptibility to High Myopia-Induced Cataract in Han Chinese
            Population
  JOURNAL   Med Sci Monit 29, e937702 (2023)
   PUBMED   36710479
  REMARK    GeneRIF: Polymorphisms in TRIB2 and CAPRIN2 Genes Contribute to the
            Susceptibility to High Myopia-Induced Cataract in Han Chinese
            Population.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 627)
  AUTHORS   Zheng Y, Zeng J, Xia H, Wang X, Chen H, Huang L and Zeng C.
  TITLE     Upregulated lncRNA Cyclin-dependent kinase inhibitor 2B antisense
            RNA 1 induces the proliferation and migration of colorectal cancer
            by miR-378b/CAPRIN2 axis
  JOURNAL   Bioengineered 12 (1), 5476-5490 (2021)
   PUBMED   34511033
  REMARK    GeneRIF: Upregulated lncRNA Cyclin-dependent kinase inhibitor 2B
            antisense RNA 1 induces the proliferation and migration of
            colorectal cancer by miR-378b/CAPRIN2 axis.
REFERENCE   3  (residues 1 to 627)
  AUTHORS   Ai Y, Wu S, Zou C and Wei H.
  TITLE     LINC00941 promotes oral squamous cell carcinoma progression via
            activating CAPRIN2 and canonical WNT/beta-catenin signaling pathway
  JOURNAL   J Cell Mol Med 24 (18), 10512-10524 (2020)
   PUBMED   32691935
  REMARK    GeneRIF: LINC00941 promotes oral squamous cell carcinoma
            progression via activating CAPRIN2 and canonical WNT/beta-catenin
            signaling pathway.
REFERENCE   4  (residues 1 to 627)
  AUTHORS   Wang X, Jia Y, Fei C, Song X and Li L.
  TITLE     Activation/Proliferation-associated Protein 2 (Caprin-2) Positively
            Regulates CDK14/Cyclin Y-mediated Lipoprotein Receptor-related
            Protein 5 and 6 (LRP5/6) Constitutive Phosphorylation
  JOURNAL   J Biol Chem 291 (51), 26427-26434 (2016)
   PUBMED   27821587
  REMARK    GeneRIF: findings revealed an unrecognized role of Caprin-2 in
            facilitating LRP5/6 constitutive phosphorylation at G2/M through
            forming a quaternary complex with CDK14, Cyclin Y, and LRP5/6.
REFERENCE   5  (residues 1 to 627)
  AUTHORS   Miao H, Jia Y, Xie S, Wang X, Zhao J, Chu Y, Zhou Z, Shi Z, Song X
            and Li L.
  TITLE     Structural insights into the C1q domain of Caprin-2 in canonical
            Wnt signaling
  JOURNAL   J Biol Chem 289 (49), 34104-34113 (2014)
   PUBMED   25331957
  REMARK    GeneRIF: Caprin-2 C1q-related domain forms a flexible homotrimer
            mediated by calcium, and this trimeric assembly is required for the
            functioning of caprin-2.
REFERENCE   6  (residues 1 to 627)
  AUTHORS   Shiina N and Tokunaga M.
  TITLE     RNA granule protein 140 (RNG140), a paralog of RNG105 localized to
            distinct RNA granules in neuronal dendrites in the adult vertebrate
            brain
  JOURNAL   J Biol Chem 285 (31), 24260-24269 (2010)
   PUBMED   20516077
REFERENCE   7  (residues 1 to 627)
  AUTHORS   Ding Y, Xi Y, Chen T, Wang JY, Tao DL, Wu ZL, Li YP, Li C, Zeng R
            and Li L.
  TITLE     Caprin-2 enhances canonical Wnt signaling through regulating LRP5/6
            phosphorylation
  JOURNAL   J Cell Biol 182 (5), 865-872 (2008)
   PUBMED   18762581
  REMARK    GeneRIF: Caprin-2 promotes activation of the canonical Wnt
            signaling pathway by regulating LRP5/6 phosphorylation.
REFERENCE   8  (residues 1 to 627)
  AUTHORS   Tao WA, Wollscheid B, O'Brien R, Eng JK, Li XJ, Bodenmiller B,
            Watts JD, Hood L and Aebersold R.
  TITLE     Quantitative phosphoproteome analysis using a dendrimer conjugation
            chemistry and tandem mass spectrometry
  JOURNAL   Nat Methods 2 (8), 591-598 (2005)
   PUBMED   16094384
REFERENCE   9  (residues 1 to 627)
  AUTHORS   Grill B, Wilson GM, Zhang KX, Wang B, Doyonnas R, Quadroni M and
            Schrader JW.
  TITLE     Activation/division of lymphocytes results in increased levels of
            cytoplasmic activation/proliferation-associated protein-1:
            prototype of a new family of proteins
  JOURNAL   J Immunol 172 (4), 2389-2400 (2004)
   PUBMED   14764709
REFERENCE   10 (residues 1 to 627)
  AUTHORS   Aerbajinai W, Lee YT, Wojda U, Barr VA and Miller JL.
  TITLE     Cloning and characterization of a gene expressed during terminal
            differentiation that encodes a novel inhibitor of growth
  JOURNAL   J Biol Chem 279 (3), 1916-1921 (2004)
   PUBMED   14593112
  REMARK    GeneRIF: regulated expression of EEG-1 is involved in the
            orchestrated regulation of growth that occurs as erythroblasts
            shift from a highly proliferative state toward their terminal phase
            of differentiation.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010198.8.
            
            Summary: The protein encoded by this gene may regulate the
            transport of mRNA. It may play a role in the differentiation of
            erythroblasts. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Feb
            2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.2025680.1,
                                           SRR1660803.45414.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..627
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     Protein         1..627
                     /product="caprin-2 isoform 36"
                     /note="RNA granule protein 140; C1q domain-containing
                     protein 1; gastric cancer multidrug resistance-associated
                     protein; cytoplasmic activation/proliferation-associated
                     protein 2"
                     /calculated_mol_wt=69574
     Region          <7..236
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          287..601
                     /region_name="Caprin-1_C"
                     /note="Cytoplasmic activation/proliferation-associated
                     protein-1 C term; pfam12287"
                     /db_xref="CDD:432456"
     CDS             1..627
                     /gene="CAPRIN2"
                     /gene_synonym="C1QDC1; EEG-1; EEG1; RNG140"
                     /coded_by="NM_001385551.1:976..2859"
                     /note="isoform 36 is encoded by transcript variant 60"
                     /db_xref="CCDS:CCDS91671.1"
                     /db_xref="GeneID:65981"
                     /db_xref="HGNC:HGNC:21259"
                     /db_xref="MIM:610375"
ORIGIN      
        1 mliqsekktq lsktesvkes eslmefaqpe iqpqeflnrr ymtevdysnk qgeeqpwead
       61 yarkpnlpkr wdmltepdgq ekkqesfksw easgkhqevs kpavsleqrk qdtsklrstl
      121 peeqkkqeis kskpspsqwk qdtpkskagy vqeeqkkqet pklwpvqlqk eqdpkkqtpk
      181 swtpsmqseq nttkswttpm ceeqdskqpe tpkswennve sqkhsltsqs qispkswgva
      241 taslipndql lprklntepk dvpkpvhqpv gssstlpkdp vlrkeklqdl mtqiqgtcnf
      301 mqesvldfdk pssaiptsqp psatpgspva skeqnlssqs dflqeplqat sspvtcssna
      361 clvttdqass gsetefmtse tpeaaippgk qpsslaspnp pmakgseqgf qsppassssv
      421 tintapfqam qtvfnvnapl pprkeqeike spyspgynqs fttastqtpp qcqlpsihve
      481 qtvhsqetan yhpdgtiqvs ngslafypaq tnvfprptqp fvnsrgsvrg ctrggrlitn
      541 syrspggykg fdtyrglpsi sngnysqlqf qareysgapy sqrdnfqqcy krggtsggpr
      601 ansrancfim rnslllikqq ggvillr
//
LOCUS       NP_000360                764 aa            linear   PRI 18-MAR-2023
DEFINITION  thyrotropin receptor isoform 1 precursor [Homo sapiens].
ACCESSION   NP_000360
VERSION     NP_000360.2
DBSOURCE    REFSEQ: accession NM_000369.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 764)
  AUTHORS   Shreder EV, Vadina TA, Solodovnikova EN, Zakharova VV, Degtyarev
            MV, Konyukhova MB, Sergeeva NV and Bezlepkina OB.
  TITLE     [Pathogenic TSHR variants in children with thyroid dysgenesis]
  JOURNAL   Probl Endokrinol (Mosk) 69 (1), 76-85 (2023)
   PUBMED   36842079
  REMARK    GeneRIF: [Pathogenic TSHR variants in children with thyroid
            dysgenesis].
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 764)
  AUTHORS   Whitmer D, Phay JE, Holt S, O'Donnell B, Nguyen J, Joseph D, Chi A,
            Wu S, Hao Y, Huang J, Klopper JP, Kloos RT, Kennedy GC and Shin J.
  TITLE     Risk of malignancy in cytologically indeterminate thyroid nodules
            harboring thyroid stimulating hormone receptor mutations
  JOURNAL   Front Endocrinol (Lausanne) 13, 1073592 (2022)
   PUBMED   36619548
  REMARK    GeneRIF: Risk of malignancy in cytologically indeterminate thyroid
            nodules harboring thyroid stimulating hormone receptor mutations.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 764)
  AUTHORS   Naghibi FS, Miresmaeili SM and Javid A.
  TITLE     Association of TSHR gene single nucleotide intronic polymorphism
            with the risk of hypothyroid and hyperthyroid disorders in Yazd
            province
  JOURNAL   Sci Rep 12 (1), 15745 (2022)
   PUBMED   36130976
  REMARK    GeneRIF: Association of TSHR gene single nucleotide intronic
            polymorphism with the risk of hypothyroid and hyperthyroid
            disorders in Yazd province.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 764)
  AUTHORS   Faust B, Billesbolle CB, Suomivuori CM, Singh I, Zhang K, Hoppe N,
            Pinto AFM, Diedrich JK, Muftuoglu Y, Szkudlinski MW, Saghatelian A,
            Dror RO, Cheng Y and Manglik A.
  TITLE     Autoantibody mimicry of hormone action at the thyrotropin receptor
  JOURNAL   Nature 609 (7928), 846-853 (2022)
   PUBMED   35940205
  REMARK    GeneRIF: Autoantibody mimicry of hormone action at the thyrotropin
            receptor.
REFERENCE   5  (residues 1 to 764)
  AUTHORS   Duan J, Xu P, Luan X, Ji Y, He X, Song N, Yuan Q, Jin Y, Cheng X,
            Jiang H, Zheng J, Zhang S, Jiang Y and Xu HE.
  TITLE     Hormone- and antibody-mediated activation of the thyrotropin
            receptor
  JOURNAL   Nature 609 (7928), 854-859 (2022)
   PUBMED   35940204
  REMARK    GeneRIF: Hormone- and antibody-mediated activation of the
            thyrotropin receptor.
REFERENCE   6  (residues 1 to 764)
  AUTHORS   Takeshita A, Nagayama Y, Fujiyama K, Yokoyama N, Namba H, Yamashita
            S, Izumi M and Nagataki S.
  TITLE     Molecular cloning and sequencing of an alternatively spliced form
            of the human thyrotropin receptor transcript
  JOURNAL   Biochem Biophys Res Commun 188 (3), 1214-1219 (1992)
   PUBMED   1445355
REFERENCE   7  (residues 1 to 764)
  AUTHORS   Graves PN, Tomer Y and Davies TF.
  TITLE     Cloning and sequencing of a 1.3 KB variant of human thyrotropin
            receptor mRNA lacking the transmembrane domain
  JOURNAL   Biochem Biophys Res Commun 187 (2), 1135-1143 (1992)
   PUBMED   1530609
REFERENCE   8  (residues 1 to 764)
  AUTHORS   Loosfelt H, Pichon C, Jolivet A, Misrahi M, Caillou B, Jamous M,
            Vannier B and Milgrom E.
  TITLE     Two-subunit structure of the human thyrotropin receptor
  JOURNAL   Proc Natl Acad Sci U S A 89 (9), 3765-3769 (1992)
   PUBMED   1570295
REFERENCE   9  (residues 1 to 764)
  AUTHORS   Nagayama Y, Russo D, Wadsworth HL, Chazenbalk GD and Rapoport B.
  TITLE     Eleven amino acids (Lys-201 to Lys-211) and 9 amino acids (Gly-222
            to Leu-230) in the human thyrotropin receptor are involved in
            ligand binding
  JOURNAL   J Biol Chem 266 (23), 14926-14930 (1991)
   PUBMED   1651314
REFERENCE   10 (residues 1 to 764)
  AUTHORS   Murakami M and Mori M.
  TITLE     Identification of immunogenic regions in human thyrotropin receptor
            for immunoglobulin G of patients with Graves' disease
  JOURNAL   Biochem Biophys Res Commun 171 (1), 512-518 (1990)
   PUBMED   1697467
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010072.5, AC007262.4 and
            AL136040.5.
            On May 13, 2005 this sequence version replaced NP_000360.1.
            
            Summary: The protein encoded by this gene is a membrane protein and
            a major controller of thyroid cell metabolism. The encoded protein
            is a receptor for thyrothropin and thyrostimulin, and its activity
            is mediated by adenylate cyclase. Defects in this gene are a cause
            of several types of hyperthyroidism. Three transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and it encodes the longer protein (isoform 1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.744242.1,
                                           SRR14038193.1488990.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298171.7/ ENSP00000298171.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..764
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q31.1"
     Protein         1..764
                     /product="thyrotropin receptor isoform 1 precursor"
                     /note="seven transmembrane helix receptor; thyrotropin
                     receptor-I, hTSHR-I; TSH receptor"
                     /calculated_mol_wt=84544
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2319
     Region          54..77
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          66..221
                     /region_name="LRR_5"
                     /note="Leucine rich repeats (6 copies); pfam13306"
                     /db_xref="CDD:433104"
     Region          78..102
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          103..127
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          147..179
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          180..201
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          202..229
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          415..689
                     /region_name="7tmA_TSH-R"
                     /note="thyroid-stimulating hormone receptor (or
                     thyrotropin receptor), member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15964"
                     /db_xref="CDD:320630"
     Region          416..442
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320630"
     Region          449..474
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320630"
     Site            order(470,473..474,494..499,501..502,505,550,552..556,578,
                     581..583,585..587,589..590,637,640..641,643..644,647,
                     656..657,659..661,664,667..668)
                     /site_type="other"
                     /note="putative peptide ligand binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:320630"
     Region          494..524
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320630"
     Region          536..558
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320630"
     Region          578..607
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320630"
     Region          617..647
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320630"
     Region          657..682
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320630"
     CDS             1..764
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /coded_by="NM_000369.5:61..2355"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS9872.1"
                     /db_xref="GeneID:7253"
                     /db_xref="HGNC:HGNC:12373"
                     /db_xref="MIM:603372"
ORIGIN      
        1 mrpadllqlv llldlprdlg gmgcssppce chqeedfrvt ckdiqripsl ppstqtlkli
       61 ethlrtipsh afsnlpnisr iyvsidvtlq qleshsfynl skvthieirn trnltyidpd
      121 alkelpllkf lgifntglkm fpdltkvyst diffileitd npymtsipvn afqglcnetl
      181 tlklynngft svqgyafngt kldavylnkn kyltvidkda fggvysgpsl ldvsqtsvta
      241 lpskglehlk eliarntwtl kklplslsfl hltradlsyp shccafknqk kirgileslm
      301 cnessmqslr qrksvnalns plhqeyeenl gdsivgykek skfqdthnna hyyvffeeqe
      361 deiigfgqel knpqeetlqa fdshydytic gdsedmvctp ksdefnpced imgykflriv
      421 vwfvsllall gnvfvllill tshyklnvpr flmcnlafad fcmgmyllli asvdlythse
      481 yynhaidwqt gpgcntagff tvfaselsvy tltvitlerw yaitfamrld rkirlrhaca
      541 imvggwvccf llallplvgi ssyakvsicl pmdtetplal ayivfvltln ivafvivccc
      601 yvkiyitvrn pqynpgdkdt kiakrmavli ftdficmapi sfyalsailn kplitvsnsk
      661 illvlfypln scanpflyai ftkafqrdvf illskfgick rqaqayrgqr vppknstdiq
      721 vqkvthemrq glhnmedvye lienshltpk kqgqiseeym qtvl
//
LOCUS       XP_016855682            2294 aa            linear   PRI 20-MAR-2023
DEFINITION  CUB and sushi domain-containing protein 2 isoform X8 [Homo
            sapiens].
ACCESSION   XP_016855682
VERSION     XP_016855682.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017000193.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2294
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..2294
                     /product="CUB and sushi domain-containing protein 2
                     isoform X8"
                     /calculated_mol_wt=249263
     Region          66..173
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(74,76,78,105,110,144,168,170,172..173)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Region          179..236
                     /region_name="CCP"
                     /note="Domain abundant in complement control proteins;
                     SUSHI repeat; short complement-like repeat (SCR);
                     smart00032"
                     /db_xref="CDD:214478"
     Site            order(189,206)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          242..345
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(250,252,254,281,286,316,340,342,344..345)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Region          383..441
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(393,410)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          445..553
                     /region_name="CUB"
                     /note="CUB domain; pfam00431"
                     /db_xref="CDD:395345"
     Site            order(453,455,457,485,490,526,550,552,554)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Region          561..615
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(571,588)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          618..725
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(626,628,630,657,662,696,720,722,724..725)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Region          731..789
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(741,758)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          792..899
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(800,802,804,831,836,870,894,896,898..899)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Region          907..961
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(917,934)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          964..1072
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(972,974,976,1003,1008,1041,1068,1070,1072)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Region          1079..1135
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(1089,1106)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          1138..1245
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(1146,1148,1150,1177,1182,1216,1240,1242,1244..1245)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Region          1251..1308
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(1261,1279)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          1311..1419
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(1320,1322,1324,1351,1356,1390,1414,1416,1418..1419)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Region          1425..1482
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(1435,1452)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          1485..1590
                     /region_name="CUB"
                     /note="CUB domain; pfam00431"
                     /db_xref="CDD:395345"
     Site            order(1493,1495,1497,1524,1529,1563,1587,1589,1591)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Region          1598..1655
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(1608,1625)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          1659..1766
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(1669,1671,1698,1703,1761,1763,1765..1766)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Region          1775..1833
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(1785,1802)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          1836..1941
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Region          1949..2005
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(1959,1976)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          2008..2115
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(2016,2018,2020,2047,2052,2086,2110,2112,2114..2115)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Region          2121..2176
                     /region_name="Sushi"
                     /note="Sushi repeat (SCR repeat); pfam00084"
                     /db_xref="CDD:425458"
     Site            order(2131,2148)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          2180..2285
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(2188,2190,2192,2219,2224,2258,2281,2283,2285)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     CDS             1..2294
                     /gene="CSMD2"
                     /gene_synonym="dJ1007G16.1; dJ1007G16.2; dJ947L8.1"
                     /coded_by="XM_017000193.2:134..7018"
                     /db_xref="GeneID:114784"
                     /db_xref="HGNC:HGNC:19290"
                     /db_xref="MIM:608398"
ORIGIN      
        1 mprsrgrelg rcgcpagrar getgisalvp gagsrwgrpp pptpppllll lgcgllsvsa
       61 aagqnctfql hgpngtvesp gfpygypnya nctwtitaee qhriqlvfqs faleedfdvl
      121 svfdgppqpe nlrtrltgfq lpativsaat tlslrlisdy avsaqgfhat yevlpshtcg
      181 npgrlpngiq qgstfnlgdk vryscnlgff leghavltch agsensatwd fplpscradd
      241 acggtlrgqs giissphfps eyhnnadctw tilaelgdti alvfidfqle dgydflevtg
      301 tegsslwftg aslpapviss knwlrlhfts dgnhrqrgfs aqyqvkkqie lksrgvklmp
      361 skdnsqktsv ltqvgvsqgh nmcpdpgipe rgkrlgsdfr lgssvqftcn egydlqgskr
      421 itcmkvsdmf aawsdhrpvc rarmcdahlr gpsgiitspn fpiqydnnah cvwiitalnp
      481 skviklafee fdlergydtl tvgdggqdgd qktvlyiltg tsvpdlivst nhqmwllfqt
      541 dgsgsslgfk asyeeieqgs cgdpgipayg rregsrfhhg dtlkfecqpa felvgqkait
      601 cqknnqwsak kpgcvfscff nftspsgvvl spnypedygn hlhcvwlila rpesrihlaf
      661 ndidvepqfd flvikdgata eapvlgtfsg nqlpssitss ghvarlefqt dhstgkrgfn
      721 itfttfrhne cpdpgvpvng krfgdslqlg ssisflcdeg flgtqgseti tcvlkegsvv
      781 wnsavlrcea pcgghltsps gtilspgwpg fykdalscaw vieaqpgypi kitfdrfkte
      841 vnydtlevrd grtysaplig vyhgtqvpqf listsnylyl lfstdkshsd igfqlryeti
      901 tlqsdhcldp gipvngqrhg ndfyvgalvt fscdsgytls dgeplecepn fqwsralpsc
      961 ealcggfiqg ssgtilspgf pdfypnnlnc twiietshgk gvfftfhtfh lesghdylli
     1021 tengsftqpl rqltgsrlpa pisaglygnf taqvrfisdf smsyegfnit fseydlepce
     1081 epevpaysir kglqfgvgdt ltfscfpgyr legtaritcl ggrrrlwssp lprcvaecgn
     1141 svtgtqgtll spnfpvnynn nheciysiqt qpgkgiqlka rafelsegdv lkvydgnnns
     1201 arllgvfshs emmgvtlnst ssslwldfit daentskgfe lhfssfelik cedpgtpkfg
     1261 ykvhdeghfa gssvsfscdp gyslrgseel lclsgerrtw drplptcvae cggtvrgevs
     1321 gqvlspgypa pyehnlnciw tieaeagcti glhflvfdte evhdvlriwd gpvesgvllk
     1381 elsgpalpkd lhstfnsvvl qfstdfftsk qgfaiqfsvs tatscndpgi pqngsrsgds
     1441 weagdstvfq cdpgyalqgs aeiscvkien rffwqpsppt ciapcggdlt gpsgvilspn
     1501 ypepyppgke cdwkvtvspd yvialvfnif nlepgydflh iydgrdslsp ligsfygsql
     1561 pgriesssns lflafrsdas vsnagfvidy tenprescfd pgsikngtrv gsdlklgssv
     1621 tyychggyev egtstlscil gpdgkpvwnn prpvctapcg gqyvgsdgvv lspnypqnyt
     1681 sgqiclyfvt vpkdyvvfgq faffhtalnd vvevhdghsq hsrllsslsg shtgeslpla
     1741 tsnqvlikfs akglapargf hfvyqavprt satqcssvpe prygkrlgsd fsvgaivrfe
     1801 cnsgyalqgs peieclpvpg alaqwnvsap tcvvpcggnl terrgtilsp gfpepylnsl
     1861 ncvwkivvpe gagiqiqvvs fvteqnwdsl evfdgadntv tmlgsfsgtt vpallnstsn
     1921 qlylhfysdi svsaagfhle yktvglsscp epavpsngvk tgerylvndv vsfqcepgya
     1981 lqghahiscm pgtvrrwnyp pplciaqcgg tveemegvil spgfpgnyps nmdcswkial
     2041 pvgfgahiqf lnfstepnhd yieirngpye tsrmmgrfsg selpssllst shettvyfhs
     2101 dhsqnrpgfk leyqayelqe cpdpepfang ivrgagynvg qsvtfeclpg yqltghpvlt
     2161 cqhgtnrnwd hplpkcevpc ggnitssngt vyspgfpspy sssqdcvwli tvpighgvrl
     2221 nlsllqteps gdfitiwdgp qqtaprlgvf trsmakktvq sssnqvllkf hrdaatggif
     2281 aiafsghlaa vctl
//
LOCUS       XP_016856855             355 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear transcription factor Y subunit gamma isoform X22 [Homo
            sapiens].
ACCESSION   XP_016856855
VERSION     XP_016856855.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001366.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..355
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..355
                     /product="nuclear transcription factor Y subunit gamma
                     isoform X22"
                     /calculated_mol_wt=39401
     Region          <37..>143
                     /region_name="HAP5"
                     /note="CCAAT-binding factor, subunit C [Transcription];
                     COG5208"
                     /db_xref="CDD:227533"
     CDS             1..355
                     /gene="NFYC"
                     /gene_synonym="CBF-C; CBFC; H1TF2A; HAP5; HSM; NF-YC"
                     /coded_by="XM_017001366.3:1983..3050"
                     /db_xref="GeneID:4802"
                     /db_xref="HGNC:HGNC:7806"
                     /db_xref="MIM:605344"
ORIGIN      
        1 mteedmikmq vtkvseevve msteggfggt sssdaqqslq sfwprvmeei rnltvkdfrv
       61 qelplarikk imkldedvkm isaeapvlfa kaaqifitel tlrawihted nkrrtlqrnd
      121 iamaitkfdq fdflidivpr delkppkrqe evrqsvtpae pvqyyftlaq qptavqvqgq
      181 qqgqqttsst ttiqpgqiii aqpqqgqttp vtmqvgegqq vqivqaqpqg qaqqaqsgtg
      241 qtmqvmqqii tntgeiqqip vqlnagqlqy irlaqpvsgt qvvqgqiqtl atnaqqitqt
      301 evqqgqqqfs qftdgqqlyq iqqvtmpagq dlaqpmfiqs anqpsdgqap qvtgd
//
LOCUS       XP_011539878             200 aa            linear   PRI 20-MAR-2023
DEFINITION  peroxisome biogenesis factor 10 isoform X2 [Homo sapiens].
ACCESSION   XP_011539878
VERSION     XP_011539878.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011541576.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..200
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..200
                     /product="peroxisome biogenesis factor 10 isoform X2"
                     /calculated_mol_wt=22040
     Region          18..>199
                     /region_name="Pex2_Pex12"
                     /note="Pex2 / Pex12 amino terminal region; pfam04757"
                     /db_xref="CDD:398431"
     CDS             1..200
                     /gene="PEX10"
                     /gene_synonym="NALD; PBD6A; PBD6B; RNF69"
                     /coded_by="XM_011541576.3:63..665"
                     /db_xref="GeneID:5192"
                     /db_xref="HGNC:HGNC:8851"
                     /db_xref="MIM:602859"
ORIGIN      
        1 mapaaasppe viraaqkdey yrgglrsaag galhslagar kwlewrkeve llsdvayfgl
       61 ttlagyqtlg eeyvsiiqvd psrihvpssl rrgvlvtlha vlpylldkal lpleqelqad
      121 pdsgrplqgs lgpggrgcsg arrwmrhhta tlteqqrral lravfvlrqg laclqrlhva
      181 wfyihgvfyh lakrltgitr
//
LOCUS       XP_011508103             742 aa            linear   PRI 20-MAR-2023
DEFINITION  protein-associating with the carboxyl-terminal domain of ezrin
            isoform X1 [Homo sapiens].
ACCESSION   XP_011508103
VERSION     XP_011508103.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011509801.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..742
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..742
                     /product="protein-associating with the carboxyl-terminal
                     domain of ezrin isoform X1"
                     /calculated_mol_wt=82727
     Region          9..247
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(9..12,15,17,38,40,66,82..85,124,128..129,131,
                     141..142)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     Region          294..319
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          337..367
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          376..402
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     CDS             1..742
                     /gene="SCYL3"
                     /gene_synonym="PACE-1; PACE1"
                     /coded_by="XM_011509801.2:313..2541"
                     /db_xref="GeneID:57147"
                     /db_xref="HGNC:HGNC:19285"
                     /db_xref="MIM:608192"
ORIGIN      
        1 mgsensalks ytlreppftl psglavypav lqdgkfasvf vykrenedkv nkaakhlktl
       61 rhpcllrfls ctveadgihl vtervqplev aletlssaev cagiydilla liflhdrghl
      121 thnnvclssv fvsedghwkl ggmetvckvs qatpeflrsi qsirdpasip peemspeftt
      181 lpechghard afsfgtlves lltilneqvs advlssfqqt lhstllnpip kcrpalctll
      241 shdffrndfl evvnflkslt lkseeektef fkflldrvsc lseeliasrl vplllnqlvf
      301 aepvavksfl pyllgpkkdh aqgetpclls palfqsrvip vllqlfevhe ehvrmvllsh
      361 ieayvehftq eqlkkvilpq vllglrdtsd sivaitlhsl avlvsllgpe vvvggertki
      421 fkrtapsftk ntdlsledsp mcvvcshhsq ispilenpfs sifpkcffsg stpinskkhi
      481 qrdyyntllq tgdpfsqpik fpinglsdvk ntsedsenfp ssskkseewp dwsepeepen
      541 qtvniqiwpr epcddvksqc ttldveessw ddcepssldt kvnpgggita tkpvtsgeqk
      601 pipallslte esmpwksslp qkislvqrgd dadqieppkv ssqerplkvp selglgeeft
      661 iqvkkkpvkd pemdwfadmi peikpsaafl ilpelrtemv pkkddvspvm qfsskfaaae
      721 itegeaegwe eegelnwedn nw
//
LOCUS       XP_005245508             488 aa            linear   PRI 20-MAR-2023
DEFINITION  SHC-transforming protein 1 isoform X13 [Homo sapiens].
ACCESSION   XP_005245508
VERSION     XP_005245508.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005245451.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..488
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..488
                     /product="SHC-transforming protein 1 isoform X13"
                     /calculated_mol_wt=52937
     Region          36..207
                     /region_name="PTB_Shc"
                     /note="Shc-like phosphotyrosine-binding (PTB) domain;
                     cd01209"
                     /db_xref="CDD:269920"
     Site            order(66..69,74,149..157,169,175,188,191..192,194..195,
                     198..199,202..205,207)
                     /site_type="other"
                     /note="phosphopeptide binding site [polypeptide binding]"
                     /db_xref="CDD:269920"
     Site            order(112,116,139)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:269920"
     Region          370..473
                     /region_name="SH2_SHC"
                     /note="Src homology 2 (SH2) domain found in SH2 adaptor
                     protein C (SHC); cd09925"
                     /db_xref="CDD:198179"
     Site            order(385,401,403,408,413,422..424)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198179"
     Site            order(412,423,425,427,432..434,440,447,458..460)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198179"
     CDS             1..488
                     /gene="SHC1"
                     /gene_synonym="SHC; SHCA"
                     /coded_by="XM_005245451.5:133..1599"
                     /db_xref="GeneID:6464"
                     /db_xref="HGNC:HGNC:10840"
                     /db_xref="MIM:600560"
ORIGIN      
        1 mnklsggggr rtrveggqlg geewtrhgsf vnkptrgwlh pndkvmgpgv sylvrymgcv
       61 evlqsmrald fntrtqvtre aislvceavp gakgatrrrk pcsrplssil grsnlkfagm
      121 pitltvstss lnlmaadckq iianhhmqsi sfasggdpdt aeyvayvakd pvnqrachil
      181 ecpeglaqdv istigqafel rfkqylrnpp klvtphdrma gfdgsawdee eeeppdhqyy
      241 ndfpgkeppl ggvvdmrlre gaapgaarpt apnaqtpshl gatlpvgqpv ggdpevrkqm
      301 pppppcpgre lfddpsyvnv qnldkarqav ggagppnpai ngsaprdlfd mkpfedalrv
      361 ppppqsvsma eqlrgepwfh gklsrreaea llqlngdflv restttpgqy vltglqsgqp
      421 khlllvdpeg vvsvaevwvr ggkkegtvpy svslflpsll crhsrwaavy gplllfkvsg
      481 iflqrlip
//
LOCUS       XP_016857691             466 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription elongation factor A protein 3 isoform X3 [Homo
            sapiens].
ACCESSION   XP_016857691
VERSION     XP_016857691.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002202.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..466
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..466
                     /product="transcription elongation factor A protein 3
                     isoform X3"
                     /calculated_mol_wt=51710
     Region          5..325
                     /region_name="TFSII"
                     /note="transcription elongation factor S-II; TIGR01385"
                     /db_xref="CDD:273592"
     CDS             1..466
                     /gene="TCEA3"
                     /gene_synonym="TFIIS; TFIIS.H"
                     /coded_by="XM_017002202.3:116..1516"
                     /db_xref="GeneID:6920"
                     /db_xref="HGNC:HGNC:11615"
                     /db_xref="MIM:604128"
ORIGIN      
        1 mgqeeellri akklekmvar kntegaldll kklhscqmsi qllqttrigv avngvrkhcs
       61 dkevvslakv liknwkrlld spgppkgekg eerekakkke kglecsdwkp eaglspprkk
      121 redpktrsns skskaespkt psspltptfa ssmcllapcy ltgdsvrdkc vemlsaalka
      181 dddykdygvn cdkmaseied hiyqelkstd mkyrnrvrsr isnlkdprnp glrrnvlsga
      241 isagliakmt aeemasdelr elrnamtqea irehqmaktg gtttdlfqcs kckkknctyn
      301 qvqtrsadep mttfvlcnec gnrwkdeqvc hlstdgigfl rsteerknil hldhaslesa
      361 stdgisfepg hsqgwetgrl spvrkelnln atrpsfppke alkvlpksvt qtapapakae
      421 vlfsrmgakq rllpecsflp sllkeqsvvt cllsvsncsl tcmctm
//
LOCUS       XP_047280956             928 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase HERC4 isoform X11 [Homo
            sapiens].
ACCESSION   XP_047280956
VERSION     XP_047280956.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425000.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..928
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..928
                     /product="probable E3 ubiquitin-protein ligase HERC4
                     isoform X11"
                     /calculated_mol_wt=103822
     Region          2..344
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          580..926
                     /region_name="HECTc"
                     /note="HECT domain; C-terminal catalytic domain of a
                     subclass of Ubiquitin-protein ligase (E3). It binds
                     specific ubiquitin-conjugating enzymes (E2), accepts
                     ubiquitin from E2, transfers ubiquitin to substrate lysine
                     side chains, and transfers additional...; cd00078"
                     /db_xref="CDD:238033"
     Site            order(586,616,627,684,861,890..891,894..898,918,925)
                     /site_type="active"
                     /note="catalytic cleft [active]"
                     /db_xref="CDD:238033"
     Site            order(712,715..716,718..719,722,731,733,737..738,740,745,
                     750,767,771)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..928
                     /gene="HERC4"
                     /coded_by="XM_047425000.1:230..3016"
                     /db_xref="GeneID:26091"
                     /db_xref="HGNC:HGNC:24521"
                     /db_xref="MIM:609248"
ORIGIN      
        1 mlcwgnasfg qlglggidee ivleprksdf finkrvrdvg cglrhtvfvl ddgtvytcgc
       61 ndlgqlghek srkkpeqvva ldaqnivavs cgeahtlaln dkgqvyawgl dsdgqlglvg
      121 seecirvprn ikslsdiqiv qvacgyyhsl alskasevfc wgqnkygqlg lgtdckkqts
      181 pqllksllgi pfmqvaagga hsfvltlsga ifgwgrnkfg qlglndendr yvpnllkslr
      241 sqkivyiccg edhtaaltke ggvftfgagg ygqlghnsts heinprkvfe lmgsivteia
      301 cgrqhtsafv pssgriysfg lggngqlgtg stsnrkspft vkgnwypyng qclpdidsee
      361 yfcvkrifsg gdqsfshyss pqncgppddf rcpnptkqiw tvnealiqkw lsypsgrfpv
      421 eianeidgtf sssgclngsf lavsnddhyr tgtrfsgvdm naarllfhkl iqpdhpqisq
      481 qvnekmgqii qydkfyihev qelidirndy inwvqqqayg mladipvtic typfvfdaqa
      541 kttllqtdav lqmqmaidqa hrqnvsslfl pviesvnpcl ilvvrreniv gdamevlrkt
      601 knidykkplk vifvgedavd aggvrkeffl limrelldpk ygmfryyeds rliwfsdktf
      661 edsdlfhlig vicglaiync tivdlhfpla lykkllkkkp slddlkelmp dvgrsmqqll
      721 dypeddieet fclnftitve nfgatevkel vlngadtavn kqnrqefvda yvdyifnksv
      781 aslfdafhag fhkvcggkvl llfqpnelqa mvigntnydw keleknteyk geywaehpti
      841 kifwevfhel plekkkqfll fltgsdripi lgmkslklvi qstgggeeyl pvshtcfnll
      901 dlpkyteket lrskliqaid hnegfsli
//
LOCUS       XP_047282349             472 aa            linear   PRI 20-MAR-2023
DEFINITION  X-ray radiation resistance-associated protein 1 isoform X22 [Homo
            sapiens].
ACCESSION   XP_047282349
VERSION     XP_047282349.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426393.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..472
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..472
                     /product="X-ray radiation resistance-associated protein 1
                     isoform X22"
                     /calculated_mol_wt=53816
     CDS             1..472
                     /gene="XRRA1"
                     /coded_by="XM_047426393.1:794..2212"
                     /db_xref="GeneID:143570"
                     /db_xref="HGNC:HGNC:18868"
                     /db_xref="MIM:609788"
ORIGIN      
        1 mlddnrlsnp scfaslaglr rlkklslden riiripylqq vqlydesvdw nggrgsphke
       61 pqfmlqskpr mledsdeqld ytvlpmkkdv drtgvppllk sflqerlgih lirrkivkpk
      121 hhvlmsrkes wkvkseipkv pkqplvlhhp rmtttkspsk dmlepeaela edlpttksts
      181 vesemptenl eghspscrtf vplppicsns tvhseetlsh lsdttvrlsp erpsdedsks
      241 tesifltqvs elpssvihkd dlelkekdqk kpptaprevk gtrrklptaf lpskyhgyee
      301 lltakpdpaf iepkgiqkna qalqqmlkhp llchsskpkl dtlqkpyvhk ekraqripip
      361 ppkktraqll ddifirlrdp rniteaplga vlhqwterrl vnhkqyleak rllkefqary
      421 rqlvsgslrt vfgttplpma cpalsesqpk fghflefmde fcqeptasds qg
//
LOCUS       XP_011543372             397 aa            linear   PRI 20-MAR-2023
DEFINITION  P2X purinoceptor 3 isoform X1 [Homo sapiens].
ACCESSION   XP_011543372
VERSION     XP_011543372.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011545070.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..397
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..397
                     /product="P2X purinoceptor 3 isoform X1"
                     /calculated_mol_wt=44158
     Region          8..360
                     /region_name="P2X_receptor"
                     /note="ATP P2X receptor; pfam00864"
                     /db_xref="CDD:425914"
     CDS             1..397
                     /gene="P2RX3"
                     /gene_synonym="P2X3"
                     /coded_by="XM_011545070.3:145..1338"
                     /db_xref="GeneID:5024"
                     /db_xref="HGNC:HGNC:8534"
                     /db_xref="MIM:600843"
ORIGIN      
        1 mncisdffty ettksvvvks wtigiinrvv qlliisyfvg wvflhekayq vrdtaiessv
       61 vtkvkgsgly anrvmdvsdy vtppqgtsvf viitkmivte nqmqgfcpes eekyrcvsds
      121 qcgperlpgg giltgrcvny ssvlrtceiq gwcptevdtv etpimmeaen ftifiknsir
      181 fplfnfekgn llpnltardm ktcrfhpdkd pfcpilrvgd vvkfagqdfa klartggvlg
      241 ikigwvcdld kawdqcipky sftrldsvse kssvspgynf rfakyykmen gseyrtllka
      301 fgirfdvlvy gnagkfniip tiissvaaft svgvgtvlcd iillnflkga dqykakkfee
      361 vnettlkiaa ltnpvypsdq ttaekqstds gafsigh
//
LOCUS       XP_011518708             576 aa            linear   PRI 20-MAR-2023
DEFINITION  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform
            X2 [Homo sapiens].
ACCESSION   XP_011518708
VERSION     XP_011518708.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011520406.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..576
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..576
                     /product="1-aminocyclopropane-1-carboxylate synthase-like
                     protein 1 isoform X2"
                     /calculated_mol_wt=65109
     Region          154..>518
                     /region_name="PLN02450"
                     /note="1-aminocyclopropane-1-carboxylate synthase"
                     /db_xref="CDD:178069"
     CDS             1..576
                     /gene="ACCS"
                     /gene_synonym="ACS; PHACS"
                     /coded_by="XM_011520406.3:725..2455"
                     /db_xref="GeneID:84680"
                     /db_xref="HGNC:HGNC:23989"
                     /db_xref="MIM:608405"
ORIGIN      
        1 mrklnwlrev keftpagrsr ppspwcphlv ssglkrqale lclgclhlwr fpflpslssy
       61 ppsasehhii ssyplhhktp rtprqysalt qeiltwhlvi emftlpqkdf rapttclgpt
      121 cmqdlgsshg edlegecsrk ldqklpelrg vgdpamissd tsylssrgrm ikwfwdsaee
      181 gyrtyhmdey dedknpsgii nlgtsenklc fdllswrlsq rdmqrvepsl lqyadwrghl
      241 flreevakfl sfyckspvpl rpenvvvlng gaslfsalat vlceageafl iptpyygait
      301 qhvclygnir layvyldsev tgldtrpfql tveklemalr eahsegvkvk glilispqnp
      361 lgdvyspeel qeylvfakrh rlhvivdevy mlsvfeksvg yrsvlslerl pdpqrthvmw
      421 atskdfgmsg lrfgtlyten qdvatavasl cryhglsglv qyqmaqllrd rdwinqvylp
      481 enharlkaah tyvseelral gipflsrgag ffiwvdlrkg crgssrclqa npkwqktpvp
      541 lrarsqvtna gelvivswpe gpaatvdlgr sgaaed
//
LOCUS       XP_047284034             340 aa            linear   PRI 20-MAR-2023
DEFINITION  ribitol-5-phosphate xylosyltransferase 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047284034
VERSION     XP_047284034.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428078.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..340
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..340
                     /product="ribitol-5-phosphate xylosyltransferase 1 isoform
                     X1"
                     /calculated_mol_wt=39142
     CDS             1..340
                     /gene="RXYLT1"
                     /gene_synonym="HP10481; MDDGA10; TMEM5"
                     /coded_by="XM_047428078.1:149..1171"
                     /db_xref="GeneID:10329"
                     /db_xref="HGNC:HGNC:13530"
                     /db_xref="MIM:605862"
ORIGIN      
        1 maeetclylw ehifeglldp sdvtaqwreg ksivgrtqys fitgpavipg yfsvdvnnvv
       61 lilngrekak ifyatqwlly aqnlvqiqkl qhlavvllgn ehcdnewinp flkrnggfve
      121 llfiiydspw indvdvfqwp lgvatyrnfp vveaswsmlh derpylcnfl gtiyenssrq
      181 almnilkkdg ndklcwvsar ehwqpqetne slknyqdall qsdltlcpvg vntecyriye
      241 acsygsipvv edvmtagncg ntsvhhgapl qllksmgapf ifiknwkelp avlekektii
      301 lqekierrkm llqwyqhfkt elkmkftnil essflmnnks
//
LOCUS       XP_005268695             424 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 641 isoform X2 [Homo sapiens].
ACCESSION   XP_005268695
VERSION     XP_005268695.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005268638.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..424
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..424
                     /product="zinc finger protein 641 isoform X2"
                     /calculated_mol_wt=47889
     Region          <2..90
                     /region_name="PLN03206"
                     /note="phosphoribosylformylglycinamidine synthase;
                     Provisional"
                     /db_xref="CDD:178745"
     Region          95..156
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          252..272
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(257,259,261,263..264,267..268,271,285,287,291..292,
                     295..296,299,313,315,317,319..320,323..324,327)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          276..>330
                     /region_name="SUF4-like"
                     /note="N-terminal domain of Oryza sativa transcription
                     factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana
                     SUF4 (AtSUF4), and similar proteins; cd20908"
                     /db_xref="CDD:411020"
     Site            order(280,283,296,305,308,311,324,328)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:411020"
     Region          280..305
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          280..300
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(285,291,298,304,307,314)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411020"
     Region          308..328
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          308..328
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          337..>416
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          360..380
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          388..408
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..424
                     /gene="ZNF641"
                     /coded_by="XM_005268638.5:624..1898"
                     /db_xref="GeneID:121274"
                     /db_xref="HGNC:HGNC:31834"
                     /db_xref="MIM:613906"
ORIGIN      
        1 mlseqtaalg tgwesmnvql dgaepqverg sqeerpwrtv pgplehlccd leeepqslqe
       61 kaqsapwvpa ipqegntgdw emaaallaag sqglvtikdv slcfsqeewr sldpsqtdfy
      121 geyvmqencg ivvslrfpip kldmlsqleg geeqwvpdpq dleerdilrv tytgdgsehe
      181 gdtpeleaep prmlssvsed tvlwnpehde swdsmpsssr gmllgppflq edsfsnllcs
      241 temdsllrph tcpqcgkqfv wgshlarhqq thtgerpysc lkcektfgrr hhlirhqkth
      301 lhdktsrcse cgknfrcnsh lashqrvhae gksckgqevg espgtrkrqr appvpkchvc
      361 tecgksfgrr hhlvrhwlth tgekpfqcpr ceksfgrkhh ldrhllthqg qsprnswdrg
      421 tsvf
//
LOCUS       XP_047285835            1463 aa            linear   PRI 20-MAR-2023
DEFINITION  protein SCAF11 isoform X4 [Homo sapiens].
ACCESSION   XP_047285835
VERSION     XP_047285835.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429879.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1463
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1463
                     /product="protein SCAF11 isoform X4"
                     /calculated_mol_wt=164522
     Region          39..90
                     /region_name="mRING-HC-C3HC3D_SCAF11"
                     /note="Modified RING finger, HC subclass (C3HC3D-type),
                     found in SR-related and CTD-associated factor 11 (SCAF11)
                     and similar proteins; cd16636"
                     /db_xref="CDD:438298"
     Region          758..>1009
                     /region_name="PRK12678"
                     /note="transcription termination factor Rho; Provisional"
                     /db_xref="CDD:237171"
     CDS             1..1463
                     /gene="SCAF11"
                     /gene_synonym="CASP11; SFRS2IP; SIP1; SRRP129; SRSF2IP"
                     /coded_by="XM_047429879.1:312..4703"
                     /db_xref="GeneID:9169"
                     /db_xref="HGNC:HGNC:10784"
                     /db_xref="MIM:603668"
ORIGIN      
        1 mkkktvctln mgdkkyedme geengdntis tgllyseadr cpiclnclle kevgfpescn
       61 hvfcmtcilk waetlascpi drkpfqavfk fsalegyvkv qvkkqlretk dkknensfek
      121 qvschensks cirrkaivre dllsakvcdl kwihrnslys etggkknaai kinkpqrsnw
      181 stnqcfrnff snmfssvshs gessftyray ctefieasei salirqkrhe lelswfpdtl
      241 pgigrigfip wnvetevlpl issvlprtif ptstisfehf gtsckgyala htqegeekkq
      301 tsgtsntrgs rrkpamttpt rrstrntrae tasqsqrspi sdnsgcdapg nsnpslsvps
      361 saesekqtrq apkrksvrrg rkppllkkkl rssvaapeks ssndsvdeet aesdtspvle
      421 kehqpdvdss nictvqthve nqsanclksc neqieesekh tanydteerv gssssescaq
      481 dlpvlvgeeg evkklentgi eanvlclese isenilekgg dplekqdqis glsqsevktd
      541 vctvhlpndf ptcltseskv yqpvscplsd lsenvesvvn eekitesslv eitehkdftl
      601 kteeliespk lessegeiiq tvdrqsvksp evqllghvet edveiiatcd tfgnedfnni
      661 qdsennllkn nllntkleks leekneslte hprstelpkt hieqiqkhfs ednnemipme
      721 cdsfcsdqne sevepsvnad lkqmnensvt hcsennmpss dladekvetv sqpsespkdt
      781 idktkkprtr rsrfhspstt wspnkdtpqe kkrpqspspr retgkesrks qspspknesa
      841 rgrkksrsqs pkkdiarerr qsqsrspkrd ttresrrses lsprretsre nkrsqprvkd
      901 sspgeksrsq sreresdrdg qrrererrtr kwsrsrshsr spsrcrtksk sssfgridrd
      961 sysprwkgrw andgwrcprg ndryrkndpe kqnentrkek ndihldaddp nsadkhrndc
     1021 pnwitekins gpdprtrnpe klkeshween rnensgnswn knfgsgwvsn rgrgrgnrgr
     1081 gtyrssfayk dqnenrwqnr kplsgnsnss gsesfkfveq qsykrkseqe fsfdtpadrs
     1141 gwtsasswav rktlpadvqn yysrrgrnss gpqsgwmkqe eetsgqdssl kdqtnqqvdg
     1201 sqlpinmmqp qmnvmqqqmn aqhqpmnifp ypvgvhaplm niqrnpfnih pqlplhlhtg
     1261 vplmqvatpt svsqglpppp pppppsqqvn yiasqpdgkq lqgipssshv snnmstpvlp
     1321 aptaapgntg mvqgpssgnt sssshskasn aavklaeskv svaveasads sktdkklqiq
     1381 ekaaqevkla ikpfyqnkdi tkeeykeivr kavdkvchsk sgevnstkva nlvkayvdky
     1441 kysrkgsqkk tleepvstek nig
//
LOCUS       XP_016876096             711 aa            linear   PRI 20-MAR-2023
DEFINITION  propionyl-CoA carboxylase alpha chain, mitochondrial isoform X3
            [Homo sapiens].
ACCESSION   XP_016876096
VERSION     XP_016876096.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017020607.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..711
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..711
                     /product="propionyl-CoA carboxylase alpha chain,
                     mitochondrial isoform X3"
                     /calculated_mol_wt=78561
     Region          30..559
                     /region_name="PccA"
                     /note="Acetyl/propionyl-CoA carboxylase, alpha subunit
                     [Lipid transport and metabolism]; COG4770"
                     /db_xref="CDD:227111"
     CDS             1..711
                     /gene="PCCA"
                     /coded_by="XM_017020607.2:1168..3303"
                     /db_xref="GeneID:5095"
                     /db_xref="HGNC:HGNC:8653"
                     /db_xref="MIM:232000"
ORIGIN      
        1 mehvlyysrq clmvsrnlgs vgydpnektf dkilvanrge iacrvirtck kmgiktvaih
       61 sdvdassvhv kmadeavcvg paptsksyln mdaimeaikk traqavhpgy gflsenkefa
      121 rclaaedvvf igpdthaiqa mgdkieskll akkaevntip gfdgvvkdae eavriareig
      181 ypvmikasag gggkgmriaw ddeetrdgfr lssqeaassf gddrlliekf idnprhieiq
      241 vlgdkhgnal wlnerecsiq rrnqkvveea psifldaetr ramgeqaval aravkyssag
      301 tveflvdskk nfyflemntr lqvehpvtec itgldlvqem irvakgyplr hkqadiring
      361 wavecrvyae dpyksfglps igrlsqyqep lhlpgvrvds giqpgsdisi yydpmiskli
      421 tygsdrteal krmadaldny virgvthnia llreviinsr fvkgdistkf lsdvypdgfk
      481 ghmltksekn qllaiasslf vafqlraqhf qensrmpvik pdianwelsv klhdkvhtvv
      541 asnngsvfsv evdgsklnvt stwnlaspll svsvdgtqrt vqevlqvmcr ynshavgpvl
      601 shscmarpvs fsrsrwkheh svswysgarg sgkvqhcqls tksvsvikyp mvcgsgtemg
      661 lfpkalsmat svyfcilsci asvayilvst vygeslliei etaimkpaii n
//
LOCUS       XP_016876455             170 aa            linear   PRI 20-MAR-2023
DEFINITION  tubulin polymerization-promoting protein family member 2 isoform X1
            [Homo sapiens].
ACCESSION   XP_016876455
VERSION     XP_016876455.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017020966.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..170
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..170
                     /product="tubulin polymerization-promoting protein family
                     member 2 isoform X1"
                     /calculated_mol_wt=18372
     Region          6..161
                     /region_name="p25-alpha"
                     /note="pfam05517"
                     /db_xref="CDD:428504"
     CDS             1..170
                     /gene="TPPP2"
                     /gene_synonym="C14orf8; CT152; P18; p25beta"
                     /coded_by="XM_017020966.2:116..628"
                     /db_xref="GeneID:122664"
                     /db_xref="HGNC:HGNC:19293"
                     /db_xref="MIM:616956"
ORIGIN      
        1 maseaektfh rfaafgesss sgtemnnknf sklckdcgim dgktvtstdv divfskvkak
       61 nartitfqqf keavkelgqk rfkgkspdev leniyglmeg kdpattgatk attvgavdrl
      121 tdtskytgth kerfdesgkg kgiagreemt dntgyvsgyk gsgtydkktk
//
LOCUS       XP_047291315             461 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 16 isoform X22 [Homo sapiens].
ACCESSION   XP_047291315
VERSION     XP_047291315.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435359.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..461
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..461
                     /product="TBC1 domain family member 16 isoform X22"
                     /calculated_mol_wt=53574
     Region          123..342
                     /region_name="RabGAP-TBC"
                     /note="Rab-GTPase-TBC domain; pfam00566"
                     /db_xref="CDD:425753"
     CDS             1..461
                     /gene="TBC1D16"
                     /coded_by="XM_047435359.1:258..1643"
                     /db_xref="GeneID:125058"
                     /db_xref="HGNC:HGNC:28356"
                     /db_xref="MIM:616637"
ORIGIN      
        1 mrslrlffsd eactsgqlvv asresqykvf hfhhggldkl sdvfqqwkyc temqlkdqva
       61 pdktcmqfsi rrpklpsset hpeesmykrl gvsawlnhln elgqveeeyk lrkaiffggi
      121 dvsirgevwp fllryyshes tseerealrl qkrkeyseiq qkrlsmtpee hrafwrnvqf
      181 tvdkdvvrtd rnnqffrged npnvesmrri llnyavynpa vgysqgmsdl vapilaevld
      241 esdtfwcfvg lmqntifvss prdedmekql lylrellrlt hvrfyqhlvs lgedglqmlf
      301 chrwlllcfk refpeaealr iweacwahyq tdyfhlficv aivaiygddv ieqqlatdqm
      361 llhfgnlamh mngelvlrka rsllyqfrll pripcslhdl cklcgsgmwd sgsmpavect
      421 ghhpgsescp yggtvempsp kslregkkgp ktpqdgfgfr r
//
LOCUS       XP_047291501             867 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 27 isoform X2 [Homo sapiens].
ACCESSION   XP_047291501
VERSION     XP_047291501.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435545.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..867
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..867
                     /product="rho GTPase-activating protein 27 isoform X2"
                     /calculated_mol_wt=95971
     Region          10..66
                     /region_name="SH3_ARHGAP27"
                     /note="Src Homology 3 domain of Rho GTPase-activating
                     protein 27; cd12069"
                     /db_xref="CDD:213002"
     Site            order(15,17,20,26,44..45,60,62..63)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:213002"
     Region          239..>376
                     /region_name="PRP40"
                     /note="Splicing factor [RNA processing and modification];
                     COG5104"
                     /db_xref="CDD:227435"
     Region          247..278
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Site            order(264,275)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          415..442
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Region          477..591
                     /region_name="PH_ARHGAP9-like"
                     /note="Beta-spectrin pleckstrin homology (PH) domain;
                     cd13233"
                     /db_xref="CDD:270053"
     Site            order(484,495,497..498,551..553)
                     /site_type="other"
                     /note="non-cannonial phosphoinositide binding site
                     [chemical binding]"
                     /db_xref="CDD:270053"
     Region          673..859
                     /region_name="RhoGAP_ARHGAP27_15_12_9"
                     /note="GTPase-activator protein (GAP) domain for Rho-like
                     GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15,
                     12 and 9-like proteins; This subgroup of ARHGAPs are
                     multidomain proteins that contain RhoGAP, PH, SH3 and WW
                     domains. Most members that are...; cd04403"
                     /db_xref="CDD:239868"
     Site            order(711,750,754,823,826..827,850)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239868"
     Site            711
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239868"
     CDS             1..867
                     /gene="ARHGAP27"
                     /gene_synonym="CAMGAP1; PP905; SH3D20; SH3P20"
                     /coded_by="XM_047435545.1:182..2785"
                     /db_xref="GeneID:201176"
                     /db_xref="HGNC:HGNC:31813"
                     /db_xref="MIM:610591"
ORIGIN      
        1 maadvvgdvy vlvehpfeyt gkdgrrvair pneryrllrr stehwwhvrr epggrpfylp
       61 aqyvrelpal gnpaaaappg phpspaapep laydyrfvsa aatagpdgap eesggrassl
      121 cgpaqrgaat qrsslapglp aclylrpaap vrpaqslndl acaavsppag llgssgsfka
      181 csvagswvcp rplarsdsen vyeviqdlhv pppeesaeqv ddppepvyan ierqpratsp
      241 gaaaaplpsp vwethtdagt grpyyynpdt gvttwespfe aaegaaspat spasvdshvs
      301 letewgqywd eesrrvffyn pltgetawed eaenepeeel emqpglspgs pgdprpptpe
      361 tdypesltsy peedyspvgs fgepgptspl ttppgwschv sqdkqmlytn hftqeqwvrl
      421 edphgkpyfy npedssvrwe lpqvpvpapr sihkssqdgd tpaqasppee ktktldkagv
      481 lhrtktadkg krlrkkhwsa swtvleggvl tffkdsktsa agglrqpskf stpeytvelr
      541 gatlswapkd kssrknvlel rsrdgseyli qhdseaiist whkaiaqgiq elsaelppee
      601 sessrvdfgs serlgswqek eedarpnaaa palgpvgles dlskvrhklr kflqrrptlq
      661 slrekgyikd qvfgcalaal cerersrvpr fvqqcirave argldidgly risgnlatiq
      721 klrykvdhde rldlddgrwe dvhvitgalk lffrelpepl fpfshfrqfi aaiklqdqar
      781 rsrcvrdlvr slpapnhdtl rmlfqhlcrv iehgeqnrms vqsvaivfgp tllrpeveet
      841 smpmtmvfqn qvvelilqqc adifpph
//
LOCUS       XP_005256620            2339 aa            linear   PRI 20-MAR-2023
DEFINITION  myosin phosphatase Rho-interacting protein isoform X3 [Homo
            sapiens].
ACCESSION   XP_005256620
VERSION     XP_005256620.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005256563.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2339
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..2339
                     /product="myosin phosphatase Rho-interacting protein
                     isoform X3"
                     /calculated_mol_wt=264435
     Region          48..183
                     /region_name="PH_RIP"
                     /note="Rho-Interacting Protein Pleckstrin homology (PH)
                     domain; cd01236"
                     /db_xref="CDD:269942"
     Region          422..523
                     /region_name="PH_M-RIP"
                     /note="Myosin phosphatase-RhoA Interacting Protein
                     Pleckstrin homology (PH) domain; cd13275"
                     /db_xref="CDD:270094"
     Region          <711..1073
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          <1774..>2082
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     Region          <1975..2276
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..2339
                     /gene="MPRIP"
                     /gene_synonym="M-RIP; MRIP; p116Rip; RHOIP3; RIP3"
                     /coded_by="XM_005256563.5:297..7316"
                     /db_xref="GeneID:23164"
                     /db_xref="HGNC:HGNC:30321"
                     /db_xref="MIM:612935"
ORIGIN      
        1 mrrgraepla rrerqagqac aaaaaavaaa ptmsaakenp crkfqanifn kskcqncfkp
       61 reshllnded ltqakpiygg wlllapdgtd fdnpvhrsrk wqrrffilye hgllryalde
      121 mpttlpqgti nmnqctdvvd gegrtgqkfs lciltpekeh firaetkeiv sgwlemlmvy
      181 prtnkqnqkk krkvepptpq epgpakvavt ssssssssss sipsaekvpt tkstlwqeem
      241 rtkdqpdgss lspaqspsqs qppaasslre pgleskeees amssdrmdcg rkvrvesgyf
      301 slektkqdlk aeeqqlpppl sppspstpnh rrsqviekfe aldiekaehm etnavgpsps
      361 sdtrqgrsek rafprkrdft neappaplpd asasplsphr raksldrrst epsvtpdlln
      421 fkkgwltkqy edgqwkkhwf vladqslryy rdsvaeeaad ldgeidlsac ydvteypvqr
      481 nygfqihtke geftlsamts girrnwiqti mkhvhpttap dvtsslpeek nksscsfetc
      541 prptekqeae lgepdpeqkr srarerrreg rsktfdwaef rpiqqalaqe rvggvgpadt
      601 heplrpeaep gelererarr reerrkrfgm ldatdgpgte daalrmevdr spglpmsdlk
      661 thnvhveieq rwhqvettpl reekqvpiap vhlssedggd rlstheltsl lekeleqsqk
      721 easdlleqnr llqdqlrval greqsaregy vlqtevaasp sgawqrlhrv nqdlqselea
      781 qcqrqelith qiqtlkrsyg eakdtirhhe aeirslqarl snaaaelaik eqalaklkgd
      841 lkreqgrvre qleerqhsea alssqlrase qklksaeall lektqelrgl etqqalqrdr
      901 qkevqrlqer iadlsqqlga seqaqrlmee klqrnyelll escekekqal lqnlkevedk
      961 asayedqlqg qaqqvetlqk eklsatfegs eqvhqleeql eareasvrrl aehvqslcde
     1021 rdllrqrfqe ltervatsde dvaelreklr rreadnqsle hsyqrvssql qsmhtllrek
     1081 eeelerikea hekvlekkeq dlnealvkmv algssleete iklqakeeil rkfasespkd
     1141 meeprstpee terdgtllpg qpvqatrapl glphtrlede dedlgappge eygdgspsre
     1201 dsmvppksve vldreghqqg takldqgapg vkrqrirfst iqcqryihpe gsektwtsst
     1261 ssdtsqdrsp seesmssepa psvlpatgds dtylsiihsl etklyvteek lkdvtvrles
     1321 qqgqsreall alhhqwagte aqlreqlras llqvgalasq leqerqerar rveghvgelg
     1381 dfqvknsqal mclencreql rslprasqed eqdaraasla svesalvsai qalqhwpapa
     1441 hggaraqlet ggteengkpa slqqcsqsel teqeqvrlls dqialeasli sqiadslknt
     1501 tsdvsrmlhe iswsgqppme sagapvdtwa rkvlvdgefw sqveslrkhl gtlggeavga
     1561 sgdgqqsipq glapilanat wvraelsfat qsvresfhrr lqsiqetlrg tqtalrqhkc
     1621 llreilgayq tpdfervmqq vlealrlpag hedgvqlswd lsplgevlgr dsdssqepfd
     1681 vsdqspgafv aiqeelaqql kekaslleei aaalpslppv eslrdcqkll qvsqslsynt
     1741 clgglgqyss llvqdaiiqa qvcyascrir leyekelqlc keswqtreps cseqaqaara
     1801 lreeyeellr kqkseyldvi aiverenael kakaaqldhq qqcledaesk hsmsmftlrg
     1861 ryeeeircvv eqltrtestl qaersrvlsq ldasvrdrqd merhhgeqiq tledrfqlkv
     1921 relqtiheee lrtlqehysq slrclqdtlc lhqgphpkal papapnwqat qgeadsmtgl
     1981 reriqeleaq mdvmreelgh kdlegdaatl rekyqrdles lkatcergfa ameethqkki
     2041 edlqrqhqre leklreekdr llaeetaati saieamknah reemerelek sqrsqissvn
     2101 sdvealrrqy leelqsvqre levlseqysq kclenahlaq aleaerqalr qcqrenqeln
     2161 ahnqelnnrl aaeitrlrtl ltgdgggeat gsplaqgkda yelevllrvk eseiqylkqe
     2221 isslkdelqt alrdkkyasd kykdiytels iakakadcdi srlkeqlkaa tealgekspd
     2281 satvsgydim ksksnpdflk kdrscvtrql rnirskslke gltvqerlkl fesrdlkkd
//
LOCUS       XP_047291840            2338 aa            linear   PRI 20-MAR-2023
DEFINITION  acetyl-CoA carboxylase 1 isoform X4 [Homo sapiens].
ACCESSION   XP_047291840
VERSION     XP_047291840.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435884.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2338
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..2338
                     /product="acetyl-CoA carboxylase 1 isoform X4"
                     /calculated_mol_wt=264558
     Region          118..620
                     /region_name="AccC"
                     /note="Biotin carboxylase [Lipid transport and
                     metabolism]; COG0439"
                     /db_xref="CDD:223516"
     Region          671..818
                     /region_name="AccB"
                     /note="Biotin carboxyl carrier protein [Coenzyme transport
                     and metabolism, Lipid transport and metabolism]; COG0511"
                     /db_xref="CDD:223585"
     Region          753..818
                     /region_name="Biotin_lipoyl"
                     /note="Biotin-requiring enzyme; pfam00364"
                     /db_xref="CDD:395290"
     Site            order(776,785..787,794)
                     /site_type="active"
                     /note="carboxyltransferase (CT) interaction site [active]"
                     /db_xref="CDD:133459"
     Site            786
                     /site_type="other"
                     /note="biotinylation site [posttranslational
                     modification]"
                     /db_xref="CDD:133459"
     Region          820..1561
                     /region_name="ACC_central"
                     /note="Acetyl-CoA carboxylase, central region; pfam08326"
                     /db_xref="CDD:429920"
     Region          1661..2209
                     /region_name="Carboxyl_trans"
                     /note="Carboxyl transferase domain; pfam01039"
                     /db_xref="CDD:426008"
     CDS             1..2338
                     /gene="ACACA"
                     /gene_synonym="ACAC; Acac1; ACACAD; ACACalpha; ACC; ACC1;
                     ACCA; ACCalpha; hACC1"
                     /coded_by="XM_047435884.1:172..7188"
                     /db_xref="GeneID:31"
                     /db_xref="HGNC:HGNC:84"
                     /db_xref="MIM:200350"
ORIGIN      
        1 mdepsplaqp lelnqhsrfi igsvsednse deisnlvkld lleekegsls pasvgsdtls
       61 dlgisslqdg lalhirssms glhlvkqgrd rkkidsqrdf tvaspaefvt rfggnkviek
      121 vlianngiaa vkcmrsirrw syemfrnera irfvvmvtpe dlkanaeyik madhyvpvpg
      181 gpnnnnyanv elildiakri pvqavwagwg hasenpklpe lllkngiafm gppsqamwal
      241 gdkiassiva qtagiptlpw sgsglrvdwq endfskriln vpqelyekgy vkdvddglqa
      301 aeevgypvmi kaseggggkg irkvnnaddf pnlfrqvqae vpgspifvmr lakqsrhlev
      361 qiladqygna islfgrdcsv qrrhqkiiee apatiatpav fehmeqcavk lakmvgyvsa
      421 gtveylysqd gsfyflelnp rlqvehpcte mvadvnlpaa qlqiamgipl yrikdirmmy
      481 gvspwgdspi dfedsahvpc prghviaari tsenpdegfk pssgtvqeln frsnknvwgy
      541 fsvaaagglh efadsqfghc fswgenreea isnmvvalke lsirgdfrtt veylikllet
      601 esfqmnridt gwldrliaek vqaerpdtml gvvcgalhva dvslrnsvsn flhslergqv
      661 lpahtllntv dveliyegvk yvlkvtrqsp nsyvvimngs cvevdvhrls dgglllsydg
      721 ssyttymkee vdryritign ktcvfekend psvmrspsag kliqyivedg ghvfagqcya
      781 eievmkmvmt ltavesgcih yvkrpgaald pgcvlakmql dnpskvqqae lhtgslpriq
      841 stalrgeklh rvfhyvldnl vnvmngyclp dpffsskvkd wverlmktlr dpslpllelq
      901 dimtsvsgri ppnveksikk emaqyasnit svlcqfpsqq ianildshaa tlnrkserev
      961 ffmntqsivq lvqryrsgir ghmkavvmdl lrqylrvetq fqnghydkcv falreenksd
     1021 mntvlnyifs haqvtkknll vtmlidqlcg rdptltdell nilteltqls kttnakvalr
     1081 arqvliashl psyelrhnqv esiflsaidm yghqfcienl qklilsetsi fdvlpnffyh
     1141 snqvvrmaal evyvrrayia yelnsvqhrq lkdntcvvef qfmlptshpn rmsfssnlnh
     1201 ygmthvasvs dvlldnsftp pcqrmggmvs frtfedfvri fdevmgcfsd sppqsptfpe
     1261 aghtslyded kvprdepihi lnvaiktdcd ieddrlaamf reftqqnkat lvdhgirrlt
     1321 flvaqkdfrk qvnyevdrrf hrefpkfftf rardkfeedr iyrhlepala fqlelnrmrn
     1381 fdltaipcan hkmhlylgaa kvevgtevtd yrffvraiir hsdlvtkeas feylqneger
     1441 llleamdele vafnntnvrt dcnhiflnfv ptvimdpski eesvrsmvmr ygsrlwklrv
     1501 lqaelkinir ltptgkaipi rlfltnesgy yldislykev tdsrtaqimf qaygdkqgpl
     1561 hgmlintpyv tkdllqskrf qaqslgttyi ydipemfrqs liklwesmst qaflpspplp
     1621 sdmltytelv lddqgqlvhm nrlpggneig mvawkmtfks peypegrdii vigndityri
     1681 gsfgpqedll flraselara egipriyvsa nsgariglae eirhmfhvaw vdpedpykgy
     1741 rylyltpqdy krvsalnsvh cehvedeges rykitdiigk eegigpenlr gsgmiagess
     1801 layneiitis lvtcraigig aylvrlgqrt iqvenshlil tgagalnkvl grevytsnnq
     1861 lggiqimhnn gvthctvcdd fegvftvlhw lsympksvhs svpllnskdp idriiefvpt
     1921 ktpydprwml agrphptqkg qwlsgffdyg sfseimqpwa qtvvvgrarl ggipvgvvav
     1981 etrtvelsip adpanldsea kiiqqagqvw fpdsafktyq aikdfnregl plmvfanwrg
     2041 fsggmkdmyd qvlkfgayiv dglreccqpv lvyippqael rggswvvids sinprhmemy
     2101 adresrgsvl epegtveikf rrkdlvktmr rvdpvyihla erlgtpelst aerkelenkl
     2161 kereeflipi yhqvavqfad lhdtpgrmqe kgvisdildw ktsrtffywr lrrllledlv
     2221 kkkihnanpe ltdgqiqaml rrwfvevegt vkayvwdnnk dlaewlekql teedgvhsvi
     2281 eenikcisrd yvlkqirslv qanpevamds iihmtqhisp tqraeviril stmdspst
//
LOCUS       XP_005266840             535 aa            linear   PRI 20-MAR-2023
DEFINITION  suppressor of cytokine signaling 6 isoform X1 [Homo sapiens].
ACCESSION   XP_005266840
VERSION     XP_005266840.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005266783.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..535
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..535
                     /product="suppressor of cytokine signaling 6 isoform X1"
                     /calculated_mol_wt=59397
     Region          373..472
                     /region_name="SH2_SOCS6"
                     /note="Src homology 2 (SH2) domain found in suppressor of
                     cytokine signaling (SOCS) proteins; cd10387"
                     /db_xref="CDD:198250"
     Site            order(391,409,411,419,432)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198250"
     Site            order(442,444,461)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198250"
     Region          495..535
                     /region_name="SOCS_SOCS6"
                     /note="SOCS (suppressors of cytokine signaling) box of
                     SOCS6-like proteins. Together with CIS1, the CIS/SOCS
                     family of proteins is characterized by the presence of a
                     C-terminal SOCS box and a central SH2 domain. The general
                     function of the SOCS box is the...; cd03740"
                     /db_xref="CDD:239709"
     Site            order(496..501,507,514,520,525)
                     /site_type="other"
                     /note="putative elongin B/C interaction [polypeptide
                     binding]"
                     /db_xref="CDD:239709"
     CDS             1..535
                     /gene="SOCS6"
                     /gene_synonym="CIS-4; CIS4; HSPC060; SOCS-4; SOCS-6;
                     SOCS4; SSI4; STAI4; STATI4"
                     /coded_by="XM_005266783.5:327..1934"
                     /db_xref="GeneID:9306"
                     /db_xref="HGNC:HGNC:16833"
                     /db_xref="MIM:605118"
ORIGIN      
        1 mkkislktlr ksfnlnkske etdfmvvqqp slasdfgkdd slfgscygkd mascdinged
       61 ekggknrsks eslmgtlkrr lsakqkskgk agtpsgssad edtfssssap ivfkdvraqr
      121 pirstslrsh hyspapwplr ptnseetcik mevrvkalvh ssspspalng vrkdfhdlqs
      181 ettcqeqans lkssashngd lhlhldehvp vviglmpqdy iqytvpldeg myplegsrsy
      241 cldssspmev savppqvggr afpedesqvd qdlvvapeif vdqsvnglli gttgvmlqsp
      301 raghddvppl spllppmqnn qiqrnfsglt gteahvaesm rchlnfdpns apgvarvyds
      361 vqssgpmvvt slteelkkla kqgwywgpit rweaegklan vpdgsflvrd ssddryllsl
      421 sfrshgktlh triehsngrf sfyeqpdveg htsivdlieh sirdsengaf cysrsrlpgs
      481 atypvrltnp vsrfmqvrsl qylcrfvirq ytridliqkl plpnkmkdyl qekhy
//
LOCUS       XP_024307234            1432 aa            linear   PRI 20-MAR-2023
DEFINITION  NACHT domain- and WD repeat-containing protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_024307234
VERSION     XP_024307234.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024451466.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1432
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..1432
                     /product="NACHT domain- and WD repeat-containing protein 1
                     isoform X2"
                     /calculated_mol_wt=159722
     Region          314..>399
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            341..348
                     /site_type="other"
                     /note="Walker A motif"
                     /db_xref="CDD:99707"
     Site            342..349
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:99707"
     Region          860..1156
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(867,885,889,895..896,908..909,927,931,937..938,
                     952..953,974,979,984..985,999,1016,1021,1027..1028,
                     1038..1039,1062,1066,1072..1073,1100,1104,1110,1113,
                     1126..1127,1145,1149,1155..1156)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          871..908
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          914..952
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          961..996
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1004..1041
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1065..1427
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          1087..1124
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1131..1155
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1174..1208
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1259..1297
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1302..1337
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1352..1383
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          1391..1429
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..1432
                     /gene="NWD1"
                     /coded_by="XM_024451466.2:775..5073"
                     /db_xref="GeneID:284434"
                     /db_xref="HGNC:HGNC:27619"
                     /db_xref="MIM:616250"
ORIGIN      
        1 mqrgkpcral ptlkcqtfcq rhglmfevvd lrwgirniea tdhlttelcl eevdrcwkts
       61 igpafvalig dqygpclips ridekewevl rdhltarpsd lelvaryfqr denafpptyv
      121 lqapgtgeac epeeatltsv lrsgaqearr lglitqeqwq hyhrsviewe iersllssed
      181 reqgatvflr eiqdlhkhil edcalrmvdr ladgcldada qnllsslksh itdmhpgvlk
      241 thrlpwsrdl vnpknkthac ylkelgeqfv vranhqvltr lreldtagqe lawlyqeirh
      301 hlwqsseviq tfcgrqella rlgqqlrhdd skqhtplvlf gppgigktal mcklaeqmpr
      361 llghktvtvl rllgtsqmss dargllksic fqvclayglp lppaqvldah trvvqffhtl
      421 lhtvscrnfe slvllldamd dldsvrharr vpwlplncpp rvhlilsacs galgvldtlq
      481 rvlldpeayw evkplsgnqg qqmiqlllaa arrtlspvht dllwaslpec gnpgrlrlaf
      541 eearkwasft vpvplattae eathqlctrl eqthgqllva hvlgyivssr hglseaelkd
      601 vlslddevlq dvyrdwtpps kellrfppll wvrlrrdlgy ylarrpvdgf tllaiahrql
      661 vevvreryls gserakrhgv ladffsgtws qgtkklitlp lvgkplnldr kvapqplwfs
      721 htvanlrklk elpyhllhsg rleelkqevl gsmswiscrg isggiedlld dfdlcaphld
      781 spevglvrea lqlcrpavel rgmersllyt ellarlhffa tshpalvgql cqqaqswfql
      841 cahpvlvplg gflqppggpl ratlsgchkg itamawgvee kllvigtqdg imavwdmeeq
      901 hvihmltght gevrcvkifa kgtlansask dytlhlwnll sgqekftiwd ggsknpaepq
      961 iwnlhvdeah kvvysasgsk inawnletae pvfhilgdas dpwmcmavla sqatlltvsr
     1021 dgvvslwssa tgklqgkqhm ssikeetptc avsvqkqgkl vtgfsngsis lvsskgdrll
     1081 eklpdavrfl vvsedeslla agfgrsvrif ladsrgfrrf mamdlehedm vetavfgten
     1141 nliitgslda liqvwslseq gtlldilegv gapvsllarg galvasaspq sssfkvwdls
     1201 dahrsrvpap fldrtgltav shngsyvyfp kigdknkvti wdlaegeeqd sldtsseirc
     1261 levaeqrkll ftglvsgvvl vfplnsrqdv icipppeark aincmslskc edrlaiaydn
     1321 ivlvlditsg dpcpvidgpr ytfytqlpet lssvailtdy rvvysmtngd lflyecatsk
     1381 afplethrsr vacvevshke qlvvsgseda llclwdlqar kwkfemsyta pc
//
LOCUS       XP_011525575             682 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 45 isoform X1 [Homo sapiens].
ACCESSION   XP_011525575
VERSION     XP_011525575.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011527273.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..682
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..682
                     /product="zinc finger protein 45 isoform X1"
                     /calculated_mol_wt=78111
     Region          8..67
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Site            order(148,150..151,154..155,157,171,173,177..178,181..182,
                     185,199,201,203,205..206,209..210,213)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          166..186
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          169..542
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          194..214
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          251..270
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          278..298
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          306..326
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(311,313,315,317..318,321..322,325,339,341,345..346,
                     349..350,353,367,369,371,373..374,377..378,381)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          334..354
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          362..382
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          390..410
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          418..438
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          446..466
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(451,453,455,457..458,461..462,465,479,481,485..486,
                     489..490,493,507,509,511,513..514,517..518,521)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          474..494
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <496..607
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          502..522
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          530..550
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          558..578
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          586..606
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(591,593,595,597..598,601..602,605,619,621,625..626,
                     629..630,633,647,649,651,653..654,657..658,661)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          598..622
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          614..634
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          626..650
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          642..662
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..682
                     /gene="ZNF45"
                     /gene_synonym="KOX5; ZNF13"
                     /coded_by="XM_011527273.2:1028..3076"
                     /db_xref="GeneID:7596"
                     /db_xref="HGNC:HGNC:13111"
                     /db_xref="MIM:194554"
ORIGIN      
        1 mtkskeavtf kdvavvfsee elqlldlaqr klyrdvmlen frnvvsvghq stpdglpqle
       61 reeklwmmkm atqrdnssga knlkemetlq evglrylphe elfcsqiwqq itrelikyqd
      121 svvniqrtgc qlekrddlhy kdegfsnqss hlqvhrvhtg ekpykgehcv ksfswsshlq
      181 inqrahagek pykcekcdna frrfsslqah qrvhsraksy tndasyrsfs qrshlphhqr
      241 vptgenpyky eecgrnvgks shcqaplivh tgekpykcee cgvgfsqrsy lqvhlkvhtg
      301 kkpykceecg ksfswrsrlq aherihtgek pykcnacgks fsysshlnih crihtgekpy
      361 kceecgkgfs vgshlqahqi shtgekpykc eecgkgfcra snlldhqrgh tgekpyqcda
      421 cgkgfsrssd fnihfrvhtg ekpykceecg kgfsqasnll ahqrghtgek pykcgtcgkg
      481 fsrssdlnvh crihtgekpy kcercgkafs qfsslqvhqr vhtgekpyqc aecgkgfsvg
      541 sqlqahqrch tgekpyqcee cgkgfcrasn flahrgvhtg ekpyrcdvcg krfrqrsylq
      601 ahqrvhtger pykceecgkv fswssylqah qrvhtgekpy kceecgkgfs wsssliihqr
      661 vhaddegdkd fpssedshrk tr
//
LOCUS       XP_006711921             162 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C2orf50 isoform X1 [Homo sapiens].
ACCESSION   XP_006711921
VERSION     XP_006711921.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006711858.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..162
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..162
                     /product="uncharacterized protein C2orf50 isoform X1"
                     /calculated_mol_wt=17707
     Region          66..>130
                     /region_name="LLC1"
                     /note="Normal lung function maintenance, Low in Lung
                     Cancer 1 protein; pfam14945"
                     /db_xref="CDD:434336"
     CDS             1..162
                     /gene="C2orf50"
                     /coded_by="XM_006711858.3:208..696"
                     /db_xref="GeneID:130813"
                     /db_xref="HGNC:HGNC:26324"
ORIGIN      
        1 mgshptpglq rttsagyrlp ptrppasvsp aarggpmasr glaggcqapq alkaqrvaqg
       61 aacdgvqqdq lwrelleaer rgqqrwiqnw sflkdydpmg nkkepeklpd hvplfsdtvp
      121 sstnqvvgsr ldtplgqtli rmdffftega rkkkledqmq pi
//
LOCUS       XP_047300148             399 aa            linear   PRI 20-MAR-2023
DEFINITION  inositol polyphosphate 1-phosphatase isoform X1 [Homo sapiens].
ACCESSION   XP_047300148
VERSION     XP_047300148.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444192.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..399
                     /product="inositol polyphosphate 1-phosphatase isoform X1"
                     /calculated_mol_wt=43867
     Region          4..387
                     /region_name="IPPase"
                     /note="Inositol polyphosphate-1-phosphatase, a member of
                     the Mg++ dependent family of inositol monophosphatase-like
                     domains, hydrolyzes the 1' position phosphate from
                     inositol 1,3,4-trisphosphate and inositol
                     1,4-bisphosphate. Members in this group may also...;
                     cd01640"
                     /db_xref="CDD:238818"
     Site            order(54,79..80,153..158,160,267,287..290,293,305,307,
                     311..312,315..316)
                     /site_type="active"
                     /db_xref="CDD:238818"
     CDS             1..399
                     /gene="INPP1"
                     /coded_by="XM_047444192.1:699..1898"
                     /db_xref="GeneID:3628"
                     /db_xref="HGNC:HGNC:6071"
                     /db_xref="MIM:147263"
ORIGIN      
        1 msdilrellc vsekaaniar acrqqealfq llieekkege knkkfavdfk tladvlvqev
       61 ikqnmenkfp gleknifgee sneftndwge kitlrlcste eetaellskv lngnkvasea
      121 larvvhqdva ftdptldste invpqdilgi wvdpidstyq yikgsadiks nqgifpcglq
      181 cvtiligvyd iqtgvplmgv inqpfvsrdp ntlrwkgqcy wglsymgtnm hslqltisrr
      241 ngsethtgnt gseaafspsf savistseke tikaalsrvc gdrifgaaga gykslcvvqg
      301 lvdiyifsed ttfkwdscaa hailramggg ivdlkecler npetgldlpq lvyhvenega
      361 agvdrwankg gliayrsrkr letflsllvq nlapaetht
//
LOCUS       XP_047300717             683 aa            linear   PRI 20-MAR-2023
DEFINITION  B-cell lymphoma/leukemia 11A isoform X2 [Homo sapiens].
ACCESSION   XP_047300717
VERSION     XP_047300717.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444761.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..683
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..683
                     /product="B-cell lymphoma/leukemia 11A isoform X2"
                     /calculated_mol_wt=74454
     Region          226..247
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          227..247
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          239..264
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          255..275
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          591..612
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          592..612
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(597,599,601,603..604,607..608,611,625,627,631..632,
                     635..636,639,655,657,659,661..662,665..666)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          604..629
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          620..640
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          650..668
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..683
                     /gene="BCL11A"
                     /gene_synonym="CTIP1; DILOS; EVI9; HBFQTL5; SMARCM1;
                     ZNF856"
                     /coded_by="XM_047444761.1:663..2714"
                     /db_xref="GeneID:53335"
                     /db_xref="HGNC:HGNC:13221"
                     /db_xref="MIM:606557"
ORIGIN      
        1 msaeyapqgi ckdepssytc ttckqpftsa wfllqhaqnt hglriylese hgspltprvg
       61 ipsglgaecp sqpplhgihi adnnpfnllr ipgsvsreas glaegrfppt pplfsppprh
      121 hldphrierl gaeemalath hpsafdrvlr lnpmameppa mdfsrrlrel agntssppls
      181 pgrpspmqrl lqpfqpgskp pflatpplpp lqsapppsqp pvkskscefc gktfkfqsnl
      241 vvhrrshtge kpykcnlcdh actqasklkr hmkthmhkss pmtvksddgl stasspepgt
      301 sdlvgsassa lksvvakfks endpnlipen gdeeeeedde eeeeeeeeee eelteservd
      361 ygfglsleaa rhhenssrga vvgvgdesra lpdvmqgmvl ssmqhfseaf hqvlgekhkr
      421 ghlaeaeghr dtcdedsvag esdriddgtv ngrgcspges asgglskkll lgspsslspf
      481 skriklekef dlppaampnt envysqwlag yaasrqlkdp flsfgdsrqs pfasssehss
      541 engslrfstp pgeldggisg rsgtgsggst phisgpgpgr psskegrrsd tceycgkvfk
      601 ncsnltvhrr shtgerpykc elcnyacaqs skltrhmkth gqvgkdvykc eickmpfsvy
      661 stlekhmkkw hsdrvlnndi kte
//
LOCUS       XP_047301108             588 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 4 regulatory subunit 3B
            isoform X11 [Homo sapiens].
ACCESSION   XP_047301108
VERSION     XP_047301108.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445152.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..588
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..588
                     /product="serine/threonine-protein phosphatase 4
                     regulatory subunit 3B isoform X11"
                     /calculated_mol_wt=66921
     Region          7..>65
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          <98..151
                     /region_name="SMK-1"
                     /note="Component of IIS longevity pathway SMK-1;
                     pfam04802"
                     /db_xref="CDD:428131"
     CDS             1..588
                     /gene="PPP4R3B"
                     /gene_synonym="FLFL2; PP4R3B; PSY2; SMEK2; smk1"
                     /coded_by="XM_047445152.1:338..2104"
                     /db_xref="GeneID:57223"
                     /db_xref="HGNC:HGNC:29267"
                     /db_xref="MIM:610352"
ORIGIN      
        1 msdtrrrvkv ytlnedrqwd drgtghvsst yveelkgmsl lvraesdgsl lleskinpnt
       61 ayqkqqdtli vwseaenydl alsfqekagc deiwekicqe dekflsevfa qltdeatddd
      121 krrelvnffk efcafsqtlq pqnrdaffkt laklgilpal eivmgmddlq vrsaatdifs
      181 ylvefspsmv refvmqeaqq sdddillinv vieqmicdtd pelggavqlm gllrtlidpe
      241 nmlattnkte kseflnffyn hcmhvltapl ltntsedkce kdfflkhyry swsfictpsh
      301 shshstpsss isqdnivgsn knnticpgal rfmrriiglk defynryitk gnlfepvina
      361 lldngtrynl lnsavielfe firvediksl tahivenfyk alesieyvqt fkglktkyeq
      421 ekdrqnqkln svpsilrsnr frrdakalee deemwfnede eeegkavvap vekpkpeddf
      481 pdnyekfmet kkakesedke nlpkrtspgg fkftfshsas aangtnsksv vaqippatsn
      541 gssskttnlp tsvtatkgsl vglvdypdde eedeeeessp rkrprlgs
//
LOCUS       XP_011531462             669 aa            linear   PRI 20-MAR-2023
DEFINITION  calpain-13 isoform X1 [Homo sapiens].
ACCESSION   XP_011531462
VERSION     XP_011531462.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011533160.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..669
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..669
                     /product="calpain-13 isoform X1"
                     /calculated_mol_wt=76566
     Region          35..331
                     /region_name="Peptidase_C2"
                     /note="Calpain family cysteine protease; pfam00648"
                     /db_xref="CDD:425798"
     Site            order(93,249,273)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:238004"
     Region          347..474
                     /region_name="Calpain_III"
                     /note="Calpain, subdomain III. Calpains are
                     calcium-activated cytoplasmic cysteine proteinases,
                     participate in cytoskeletal remodeling processes, cell
                     differentiation, apoptosis and signal transduction.
                     Catalytic domain and the two calmodulin-like domains
                     are...; cl00165"
                     /db_xref="CDD:444722"
     Site            order(376..378,385)
                     /site_type="other"
                     /note="acidic loop"
                     /db_xref="CDD:238132"
     Region          501..669
                     /region_name="EFh_PEF_CAPN13_14"
                     /note="Penta-EF hand, calcium binding motifs, found in
                     calpain-13 (CAPN13), calpain-14 (CAPN14), and similar
                     proteins; cd16195"
                     /db_xref="CDD:320070"
     Region          501..529
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320070"
     Region          542..571
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320070"
     Site            order(551,555,562)
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:320070"
     Region          572..605
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320070"
     Region          611..639
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320070"
     Region          641..669
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320070"
     CDS             1..669
                     /gene="CAPN13"
                     /coded_by="XM_011533160.3:264..2273"
                     /db_xref="GeneID:92291"
                     /db_xref="HGNC:HGNC:16663"
                     /db_xref="MIM:610228"
ORIGIN      
        1 mayyqepsve tsiikfkdqd fttlrdhcls mgrtfkdetf paadssigqk llqekrlsnv
       61 iwkrpqdlpg gpphfilddi srfdiqqgga adcwflaalg sltqnpqyrq kilmvqsfsh
      121 qyagifrfrf wqcgqwvevv iddrlpvqgd kclfvrprhq nqefwpclle kayakllgsy
      181 sdlhygfled alvdltggvi tnihlhsspv dlvkavktat kagslitcat psgptdtaqa
      241 menglvslha ytvtgaeqiq yrrgweeiis lwnpwgwgea ewrgrwsdgs qeweetcdpr
      301 ksqlhkkred gefwmscqdf qqkfiamfic seipitldhg ntlhegwsqi mfrkqvilgn
      361 taggprndaq fnfsvqepme gtnvvvcvtv avtpsnlkae dakfpldfqv ilagsqrfre
      421 kfppvffssf rntvqssnnk frrnftmtyh lspgnyvvva qtrrksaefl lriflkmpds
      481 drhlsshfnl rmkgspsehg sqqsifnrya qqrldidatq lqgllnqell tgppgdmfsl
      541 decrslvalm elkvngrldq eefarlwkrl vhyqhvfqkv qtspgvllss dlwkaientd
      601 flrgifisre llhlvtlrys dsvgrvsfps lvcflmrlea maktfrnlsk dgkglyltem
      661 ewmslvmyn
//
LOCUS       XP_006724244            2191 aa            linear   PRI 20-MAR-2023
DEFINITION  calcineurin-binding protein cabin-1 isoform X12 [Homo sapiens].
ACCESSION   XP_006724244
VERSION     XP_006724244.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006724181.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2191
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..2191
                     /product="calcineurin-binding protein cabin-1 isoform X12"
                     /calculated_mol_wt=243106
     Region          <34..210
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          36..64
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          90..118
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(91,94..95,98..99,101,125,128..129,132..133,135..136,
                     159,162..163,166..167,170)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          123..153
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          158..186
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(1056,1059..1060,1063..1064,1066,1090,1093..1094,
                     1097..1098,1100,1106,1141,1144..1145,1148..1149,1152)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          1056..1083
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1088..1135
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1682..>2134
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          <1913..2165
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          2127..2161
                     /region_name="MEF2_binding"
                     /note="MEF2 binding; pfam09047"
                     /db_xref="CDD:370261"
     CDS             1..2191
                     /gene="CABIN1"
                     /gene_synonym="CAIN; KB-318B8.7; PPP3IN"
                     /coded_by="XM_006724181.3:434..7009"
                     /db_xref="GeneID:23523"
                     /db_xref="HGNC:HGNC:24187"
                     /db_xref="MIM:604251"
ORIGIN      
        1 miriaalnas stieddhegs fkshktqtke aqeaeafaly hkaldlqkhd rfeesakayh
       61 elleasllre avssgdekeg lkhpglilky styknlaqla aqredletam efyleavmld
      121 stdvnlwyki ghvalrliri plarhafeeg lrcnpdhwpc ldnlitvlyt lsdyttclyf
      181 ickalekdcr yskglvlkek ifeeqpclrk dslrmflkcd msihdvsvsa aetqaivdea
      241 lglrkkrqal ivrekepdlk lvqpipfftw kclgesllam ynhlttcepp rpslgkridl
      301 sdyqdpsqpl essmvvtpvn viqpstvstn pavavaepvv sytsvattsf plhspgllet
      361 gapvgdisgg dkskkgvkrk kiseesgeta krrsarvrnt kckkeekvdf qellmkflps
      421 rlrkldpeee ddsfnnyevq seaklesfps igpqrlsfds atfmesekqd vhefllenlt
      481 nggilelmmr ylkamghkfl vrwppglaev vlsvyhswrr hstslpnpll rdcsnkhikd
      541 mmlmslscme lqldqwlltk grssavsprn cpagmvngrf gpdfpgthcl gdllqlsfas
      601 sqrdlfedgw lefvvrvywl karflalqgd meqalenydi ctemlqssta iqveagaerr
      661 divirlpnlh ndsvvsleei dknlkslerc qsleeiqrly eagdykavvh llrptlctsg
      721 fdrakhlefm tsiperpaql lllqdsllrl kdyrqcfecs dvalneavqq mvnsgeaaak
      781 eewvatvtql lmgieqalsa dssgsilkvs ssttglvrlt nnliqvidcs mavqeeakep
      841 hvssvlpwii lhriiwqeed tfhslchqqq lqnpaeegms etpmlpsslm llntaheylg
      901 rrswccnsdg allrfyvrvl qkelaastse dthpykeele taleqcfycl ysfpskkska
      961 ryleehsaqq vdliwedalf mfeyfkpktl pefdsyktst vsadlanllk riativprte
     1021 rpalsldkvs ayiegtstev pclpegadps ppvvnelyyl ladyhfknke qskaikfymh
     1081 dicicpnrfd swagmalara sriqdklnsn elksdgpiwk hatpvlncfr raleidssnl
     1141 slwieygtms yalhsfasrq lkqwrgelpp elvqqmegrr dsmletakhc ftsaarcegd
     1201 gdeeewlihy mlgkvaekqq qpptvyllhy rqaghylhee aarypkkihy hnppelamea
     1261 levyfrlhas ilkllgkpds gvgaevlvnf mkeaaegpfa rgeekntpka sekekaclvd
     1321 edshssagtl pgpgaslpss sgpgltsppy tatpidhdyv kckkphqqat pddrsqdsta
     1381 valsdssstq dffneptsll egsrksytek rlpilssqag atgkdlqgat eergkneesl
     1441 estegfraae qgvqkpaaet pasacipgkp sastptlwdg kkrgdlpgep vafpqglpag
     1501 aeeqrqflte qciasfrlcl srfpqhyksl yrlaflytys kthrnlqwar dvllgssipw
     1561 qqlqhmpaqg lfcernktnf fngiwripvd eidrpgsfaw hmnrsivlll kvlaqlrdhs
     1621 tllkvssmlq rtpdqgkkyl rdadrqvlaq rafiltvkvl edtlselaeg serpgpkvcg
     1681 lpgarmttdv shkaspedgq eglpqpkkpp ladgsgpgpe pggkvgllnh rpvamdagds
     1741 adqsgerkdk espragptep mdtseatvch sdlertppll pgrpardrgp esrptelsle
     1801 elsisarqqp tpltpaqpap apapatttgt ragghpeepl srlsrkrkll edtesgktll
     1861 ldayrvwqqg qkgvaydlgr verimsetym likqvdeeaa leqavkfcqv hlgaaaqrqa
     1921 sgdtpttpkh pkdsrenffp vtvvptapdp vpadsvqrps dahtkprpal aaattiitcp
     1981 psasastldq skdpgpprph rpeatpsmas lgpegeelar vaegtsfppq eprhspqvkm
     2041 aptsspaeph cwpaeaalgt gaeptcsqaa sskapssgsa qppeghpgkp epsraksrpl
     2101 pnmpklvips aatkfppeit vtpptptlls pkgsiseetk qklksailsa qsaanvrkes
     2161 lcqpalevle tssqessles etdedddymd i
//
LOCUS       XP_047303804            1221 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and BTB domain-containing protein 38 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047303804
VERSION     XP_047303804.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447848.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1221
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1221
                     /product="zinc finger and BTB domain-containing protein 38
                     isoform X2"
                     /calculated_mol_wt=136921
     Region          41..154
                     /region_name="BTB_POZ_ZBTB38_CIBZ"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in zinc finger and
                     BTB domain-containing protein 38 (ZBTB38); cd18223"
                     /db_xref="CDD:349532"
     Region          <358..428
                     /region_name="zf-C2H2_8"
                     /note="C2H2-type zinc ribbon; pfam15909"
                     /db_xref="CDD:435011"
     Region          370..390
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          399..418
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          488..508
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(493,495,497,499..500,503..504,507,521,523,527..528,
                     531..532,535,549,551,553,555..556,559..560)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          516..536
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          544..562
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1038..1058
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1043,1045,1047,1049..1050,1053..1054,1057,1071,1073,
                     1077..1078,1081..1082,1085,1099,1101,1103,1105..1106,
                     1109..1110,1113)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          1051..1074
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          1064..1086
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          1066..1086
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1094..1114
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1107..>1125
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          1122..1146
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..1221
                     /gene="ZBTB38"
                     /gene_synonym="CIBZ; PPP1R171; ZNF921"
                     /coded_by="XM_047447848.1:684..4349"
                     /db_xref="GeneID:253461"
                     /db_xref="HGNC:HGNC:26636"
                     /db_xref="MIM:612218"
ORIGIN      
        1 mmstptycnp grsmmsaqdt gtdknsmtvm slsrdlkddf hsdtvlsiln eqrirgilcd
       61 vtiivedtkf kahsnvlaas slyfknifws hticisshvl elddlkaevf teilnyiyss
      121 tvvvkrqetv tdlaaagkkl gisfledltd rnfsnspgpy vfcitekgvv keeknekrhe
      181 epaitngpri tnafsiiete nsnnmfspld lrasfkkvsd smrtaslcle rtdvcheaep
      241 vrtlaehsya vssvaeayrs qpvrehdgss pgntgkence alaakpktcr kpktfsipqd
      301 sdsatenipp ppvsnlevnq erspqpaavl trskspnneg dvhfsreden qssdvpgppa
      361 aevpplvync sccskafdss tllsahmqlh kptqeplvck ycnkqfttln rldrheqicm
      421 rsshmpipgg nqrflenypt igqnggsftg pepllsenri gefsstgstl pdtdhmvkfv
      481 ngqmlyscvv ckrsyvtlss lrrhanvhsw rrtypchycn kvfalaeyrt rheiwhtger
      541 ryqcifclet fmtyyilknh qksfhaidhr lsiskktang glkpsvypyk lyrllpmkck
      601 rapyksyrns syenarensq mnesapgtyv vqnphsselp tlnfqdtvnt ltnspaiple
      661 tsacqdipts anvqnaegtk wgeealkmdl dnnfystevs vsstenavss dlragdvpvl
      721 slsnssenaa svisysgsap svivhssqfs svimhsnaia amtssnhraf sdpavsqslk
      781 ddskpepdkv grfasrpksi kekkkttsht rgeipeesny vadpggslsk ttniaeetsk
      841 ietyiakpal pgtstnsnva plcqitvkig neaivkrhil gsklfykrgr rpkyqmqeep
      901 lpqgndpeps gdsplglcqs ecmemsevfd dasdqdstdk pwrpyynykp kkksrqlkkm
      961 rkvnwrkehg nrspshkcky paeldcavgk apqdkpfeee etkempklqc elcdgdkavg
     1021 agnqgrphrh ltsrpyacel cakqfqspst lkmhmrchtg ekpyqcktcg rcfsvqgnlq
     1081 kherihlglk efvcqycnka ftlnetlkih erihtgekry hcqfcfqrfl ylstkrnheq
     1141 rhirehngkg yacfqcpkic ktaaalgmhq kkhlfkspsq qekigdvche nsnplenqhf
     1201 igsedndqkd niqtgvenvv l
//
LOCUS       XP_016862328             591 aa            linear   PRI 20-MAR-2023
DEFINITION  peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform
            X2 [Homo sapiens].
ACCESSION   XP_016862328
VERSION     XP_016862328.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017006839.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..591
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..591
                     /product="peptide-N(4)-(N-acetyl-beta-
                     glucosaminyl)asparagine amidase isoform X2"
                     /calculated_mol_wt=67162
     Region          19..109
                     /region_name="PUB_PNGase"
                     /note="PNGase/UBA or UBX (PUB) domain of the P97 adaptor
                     protein Peptide:N-glycanase (PNGase); cd10459"
                     /db_xref="CDD:198417"
     Site            order(34,37..38,41,50..51,53..55,58,60,64)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:198417"
     Region          275..354
                     /region_name="Transglut_core"
                     /note="Transglutaminase-like superfamily; pfam01841"
                     /db_xref="CDD:376628"
     Region          <338..>392
                     /region_name="Rad4"
                     /note="Rad4 transglutaminase-like domain; pfam03835"
                     /db_xref="CDD:427539"
     Region          457..>538
                     /region_name="PAW"
                     /note="PNGase C-terminal domain, mannose-binding module
                     PAW; cl10509"
                     /db_xref="CDD:447914"
     CDS             1..591
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /coded_by="XM_017006839.3:54..1829"
                     /db_xref="GeneID:55768"
                     /db_xref="HGNC:HGNC:17646"
                     /db_xref="MIM:610661"
ORIGIN      
        1 maaaalgsss gsaspavael cqntpetfle askllltyad nilrnpndek yrsirignta
       61 fstrllpvrg aveclfemgf eegethlifp kkasveqlqk irdliaiers srldgsnksh
      121 kvkssqqpaa stqlpttpss npsglnqhtr nrqgqssdpp sastvaadsa ilevlqsniq
      181 hvlvyenpal qekalacipv qelkrksqek lsrarkldkg inisdedfll lellhwfkee
      241 ffhwvnnvlc skcggqtrsr drsllpsdde lkwgakeved hycdacqfsn rfprynnpek
      301 lletrcgrcg ewancftlcc ravgfearyv wdytdhvwte vyspsqqrwl hcdacedvcd
      361 kpllyeigwg kklsyviafs kdevvdvtwr ysckheevia rrtkvkeall rdtinglnkq
      421 rqlflsenrr kellqriive lvefispktp kpgelggris gsvawrvarg emglqrketl
      481 fipcenekis kqlhlcyniv kdryvrvsnn nqtisgweng vwkmesifrk vetdwhmisp
      541 fashsfkgav nlcvtqmpns lgwvklmtpg ehwwspeshi lltsgckrsm q
//
LOCUS       XP_047304898             524 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box-like/WD repeat-containing protein TBL1XR1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047304898
VERSION     XP_047304898.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448942.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 16% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..524
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..524
                     /product="F-box-like/WD repeat-containing protein TBL1XR1
                     isoform X3"
                     /calculated_mol_wt=56368
     Region          174..480
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(178,196,200,206..207,225..226,252,256,262,274..275,
                     292,297,303..304,317,333,338,344..345,357..358,376,380,
                     386..387,399..400,426,431,437..438,450..451,469,473,
                     479..480)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          182..225
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          238..274
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          280..316
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          321..356
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          363..398
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          404..449
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          455..493
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          496..519
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..524
                     /gene="TBL1XR1"
                     /gene_synonym="C21; DC42; IRA1; MRD41; TBLR1"
                     /coded_by="XM_047448942.1:438..2012"
                     /db_xref="GeneID:79718"
                     /db_xref="HGNC:HGNC:29529"
                     /db_xref="MIM:608628"
ORIGIN      
        1 mgvkhqqqql viggdrifsc tsphqctang fshsaftfgi eshisqsnin galvppaali
       61 siiqkglqyv eaevsinedg tlfdgrpies lslidavmpd vvqtrqqayr dklaqqqaaa
      121 aaaaaaaasq qgsakngent angeengaht iannhtdmme vdgdveippn kavvlrghes
      181 evficawnpv sdllasgsgd stariwnlse nstsgstqlv lrhcireggq dvpsnkdvts
      241 ldwnsegtll atgsydgfar iwtkdgnlas tlgqhkgpif alkwnkkgnf ilsagvdktt
      301 iiwdahtgea kqqfpfhsap aldvdwqsnn tfascstdmc ihvcklgqdr piktfqghtn
      361 evnaikwdpt gnllascsdd mtlkiwsmkq dncvhdlqah nkeiytikws ptgpgtnnpn
      421 anlmlasasf dstvrlwdvd rgicihtltk hqepvysvaf spdgrylasg sfdkcvhiwn
      481 tqtgalvhsy rgtggifevc wnaagdkvga sasdgsvcvl dlrk
//
LOCUS       XP_016866009            1566 aa            linear   PRI 20-MAR-2023
DEFINITION  regulating synaptic membrane exocytosis protein 1 isoform X6 [Homo
            sapiens].
ACCESSION   XP_016866009
VERSION     XP_016866009.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017010520.3
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1566
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1566
                     /product="regulating synaptic membrane exocytosis protein
                     1 isoform X6"
                     /calculated_mol_wt=175000
     Region          114..146
                     /region_name="BRcat_Rcat_RBR"
                     /note="BRcat (benign-catalytic) and Rcat
                     (required-for-catalysis) domains, part of the RBR
                     (RING1-BRcat-Rcat) domain; cl45895"
                     /db_xref="CDD:459240"
     Site            order(116,132,135,140,143)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:438995"
     Region          <131..186
                     /region_name="FYVE_like_SF"
                     /note="FYVE domain like superfamily; cl28890"
                     /db_xref="CDD:333710"
     Region          191..>284
                     /region_name="DUF601"
                     /note="Protein of unknown function, DUF601; pfam04642"
                     /db_xref="CDD:282493"
     Region          <257..536
                     /region_name="PLN03237"
                     /note="DNA topoisomerase 2; Provisional"
                     /db_xref="CDD:215641"
     Region          604..689
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(615..618,620,672..673,676..677)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          742..868
                     /region_name="C2A_RIM1alpha"
                     /note="C2 domain first repeat contained in
                     Rab3-interacting molecule (RIM) proteins; cd04031"
                     /db_xref="CDD:175997"
     Site            order(773,779,834,836,844)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:175997"
     Region          1397..1542
                     /region_name="C2B_RIM1alpha"
                     /note="C2 domain second repeat contained in
                     Rab3-interacting molecule (RIM) proteins; cd04028"
                     /db_xref="CDD:175994"
     Site            order(1454,1458..1459,1461,1464,1492,1494,1496,1540..1541)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:175994"
     CDS             1..1566
                     /gene="RIMS1"
                     /gene_synonym="CORD7; RAB3IP2; RIM; RIM1"
                     /coded_by="XM_017010520.3:475..5175"
                     /db_xref="GeneID:22999"
                     /db_xref="HGNC:HGNC:17282"
                     /db_xref="MIM:606629"
ORIGIN      
        1 mssavgprgp rpptvpppmq elpdlshlte eerniimavm drqkeeeeke eamlkcvvrd
       61 makpaacktp rnaenqphqp sprlhqqfes ykeqvrkige earryqgehk ddaptcgich
      121 ktkfadgcgh lcsycrtkfc arcggrvslr snnedkvvmw vcnlcrkqqe iltksgawff
      181 gsgpqqtsqd gtlsdtatga gsevprekka rlqersrsqt plstaaassq daappsappd
      241 rskgaepsqq algpeqkqas srsrseppre rkktpglseq ngkgalkser krvpktsaqp
      301 vegaveerer kerresrrle kgrsqdypdt pekrdegkaa deekqrkeed yqtryrsdpn
      361 larypvkppp eeqqmrmhar vsrarherrh sdvalprtea gaalpegkag krapaaaras
      421 ppdspraysa ertaetrapg akqltnhspp aprhgpvpae apelkaqepl rkqsrldpss
      481 avlmrkakre kvetmlrnds lssdqsesvr psppkphrsk rggkkrqmsv ssseeegvst
      541 peytscedve lesesvsekg dldyywldpa twhsretspi sshpvtwqps kegdrligrv
      601 ilnkrttmpk dsgallglkv vggkmtdlgr lgafitkvkk gsladvvghl ragdevlewn
      661 gkplpgatne evyniilesk sepqveiivs rpigdiprip esshppless sssfesqkme
      721 rpsisvispt spgalkdapq vlpgqlsvkl wydkvghqli vnvlqatdlp arvdgrprnp
      781 yvkmyflpdr sdkskrrtkt vkkilepkwn qtfvyshvhr rdfrermlei tvwdqprvqe
      841 eeseflgeil ieletalldd ephwyklqth desslplpqp spfmprrhih gessskklqr
      901 sqrisdsdis dyevddgigv vppvgyrssa resksttltv peqqrtthhr srsvsphrgn
      961 dqgkprsrlp nvplqrslde ihptrrsrsp trhhdasrsp vdhrtrdvds qylseqdsel
     1021 lmlprakrgr saeclhttse lqpfldrars astnclrpdt slhspererm hrqrsptqsp
     1081 padtsfssrr grqlpqvpvr sgsieqeqek ynsstkgirt qvqrdydicp nclsvvdykp
     1141 rsfyfrpfpl hvgvsyftsl vveertrqmk mkvhrfkqtt gsgssqeldr eqyskynihk
     1201 dqyrscdnvs akssdsdvsd vsaisrtssa srlsstsfms eqserprgri ssftpkmqgr
     1261 rmgtsgrsim kstsvsgemy tlehndgsqs dtavgtvgag gkkrrsslsa kvvaivsrrs
     1321 rstsqlsqte sghkklksti qrstetgmaa emrkmvrqps restdgsins yssegnlifp
     1381 gvrlgadsqf sdfldglgpa qlvgrqtlat pamgdiqigm edkkgqleve virarsltqk
     1441 pgskstpapy vkvyllenga ciakkktria rktldplyqq slvfdespqg kvlqvivwgd
     1501 ygrmdhkcfm gvaqilleel dlssmvigwy klfppsslvd ptltpltrra sqsslesstg
     1561 ppcirs
//
LOCUS       XP_011515126             135 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen triple helix repeat-containing protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011515126
VERSION     XP_011515126.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011516824.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..135
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..135
                     /product="collagen triple helix repeat-containing protein
                     1 isoform X1"
                     /calculated_mol_wt=14473
     Region          <57..89
                     /region_name="Collagen"
                     /note="Collagen triple helix repeat (20 copies);
                     pfam01391"
                     /db_xref="CDD:396114"
     CDS             1..135
                     /gene="CTHRC1"
                     /coded_by="XM_011516824.3:120..527"
                     /db_xref="GeneID:115908"
                     /db_xref="HGNC:HGNC:18831"
                     /db_xref="MIM:610635"
ORIGIN      
        1 mrpqgpaasp qrlrglllll llqlpapssa seipkgkqka qlrqrevvdl yngmclqgpa
       61 gvpgrdgspg angipgtpgi pgrdgfkgek geclresfee swtpnykqcs wsslnygidl
      121 gkiawkdfvk elvld
//
LOCUS       XP_024302889             653 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of G-protein signaling 22 isoform X11 [Homo sapiens].
ACCESSION   XP_024302889
VERSION     XP_024302889.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024447121.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..653
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..653
                     /product="regulator of G-protein signaling 22 isoform X11"
                     /calculated_mol_wt=76257
     Region          59..174
                     /region_name="RGS_RGS22_2"
                     /note="Regulator of G protein signaling domain
                     RGS_RGS22_2; cd08727"
                     /db_xref="CDD:188682"
     Region          242..371
                     /region_name="RGS_RGS22_3"
                     /note="Regulator of G protein signaling domain
                     RGS_RGS22_3; cd08726"
                     /db_xref="CDD:188681"
     Region          415..537
                     /region_name="RGS_RGS22_4"
                     /note="Regulator of G protein signaling domain
                     RGS_RGS22_4; cd08725"
                     /db_xref="CDD:188680"
     CDS             1..653
                     /gene="RGS22"
                     /gene_synonym="CT145; PRTD-NY2"
                     /coded_by="XM_024447121.2:99..2060"
                     /db_xref="GeneID:26166"
                     /db_xref="HGNC:HGNC:24499"
                     /db_xref="MIM:615650"
ORIGIN      
        1 msesskvihl tsftdisecl kpqldrryay teeprvktvs dvgalggsdm enllqslyve
       61 nragffftkf cehsgnklwk nsvyfwfdlq ayhqlfyqet lqpfkvckqa qylfatyvap
      121 satldiglqq ekkkeiymki qppfedlfdt aeeyilllll epwtkmvksd qiaykkvelv
      181 eetrqldsty frklqalhke tfskkaedtt ceigtgilsl snvskrteyw dnvpaeykhf
      241 kfsdllnnkl efehfrqfle thsssmdlmc wtdieqfrri tyrdrnqrka ksiyiknkyl
      301 nkkyffgpns paslyqqnqv mhlsggwgki lheqldapvl veiqkhvqnr lenvwlplfl
      361 aseqfaarqk ikvqmkdiae elllqkaekk igvwkpvesk wisssckiia frkallnpvt
      421 srqfqrfval kgdllengll fwqevqkykd lchshcdesv iqkkittiin cfinssippa
      481 lqidipveqa qkiiehrkel gpyvfreaqm tifgvlfkfw pqfcefrknl tdenimsvle
      541 rrqeynkqkk klavledeks gkdgikqyan tsvpaiktal lsdsflglqp ygrqptwcys
      601 kyiealeqer illkiqeele kklfaglqpl tnfkassstm slkknmsahs sqk
//
LOCUS       XP_011529405             611 aa            linear   PRI 20-MAR-2023
DEFINITION  GRB2-associated-binding protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_011529405
VERSION     XP_011529405.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011531103.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..611
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..611
                     /product="GRB2-associated-binding protein 3 isoform X1"
                     /calculated_mol_wt=68475
     Region          1..125
                     /region_name="PH_Gab3"
                     /note="Grb2-associated binding protein 3 pleckstrin
                     homology (PH) domain; cd13385"
                     /db_xref="CDD:270184"
     CDS             1..611
                     /gene="GAB3"
                     /coded_by="XM_011531103.2:53..1888"
                     /db_xref="GeneID:139716"
                     /db_xref="HGNC:HGNC:17515"
                     /db_xref="MIM:300482"
ORIGIN      
        1 msagdavctg wlvkspperk lqryawrkrw fvlrrgrmsg npdvleyyrn khsskpirvi
       61 dlsecavwkh vgpsfvrkef qnnfvfivkt tsrtfylvak teqemqvwvh sisqvcnlgh
      121 ledgaadsme slsytpsslq pssassllta haassslprd dpntnavate etrsesellf
      181 lpdylvlsnc etgrlhhtsl ptrcdswsns drsleqasfd dvfvdclqpl psshlvhpsc
      241 hgsgaqevps srpqaaliws reingpprdh lsssplless lsstiqvdkn qgslpcgake
      301 ldimsntppp rppkpshlse rrqeewsths gskkpectlv prrislsgld nmrtwkadve
      361 gqslrhrdkr lslnlpcrfs pmyptasasi edsyvpmspq agasglgphc spddyipmns
      421 gsissplpel panlepppvn rdlkpqrksr pppldlrnls iirehasltr trtvpcsrts
      481 flsperngin sarffanpvs redeesyiem eehrtassls sgaltwtkkf sldylaldfn
      541 saspapmqqk lllseeqrvd yvqvdeqktq alqstkqewt derqskvktk recvvfkvla
      601 rtfrkedlfi h
//
LOCUS       XP_047299263            2624 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor TFIIIB component B'' homolog isoform X7 [Homo
            sapiens].
ACCESSION   XP_047299263
VERSION     XP_047299263.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443307.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791777) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2624
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="unlocalized"
     Protein         1..2624
                     /product="transcription factor TFIIIB component B''
                     homolog isoform X7"
                     /calculated_mol_wt=293769
     Region          293..377
                     /region_name="Myb_DNA-bind_7"
                     /note="Myb DNA-binding like; pfam15963"
                     /db_xref="CDD:435039"
     Region          <824..>1336
                     /region_name="PRK02224"
                     /note="DNA double-strand break repair Rad50 ATPase"
                     /db_xref="CDD:179385"
     CDS             1..2624
                     /gene="BDP1"
                     /coded_by="XM_047443307.1:271..8145"
                     /db_xref="GeneID:55814"
                     /db_xref="HGNC:HGNC:13652"
                     /db_xref="MIM:607012"
ORIGIN      
        1 mfrrarlsvk pnvrpgvgar gstasnpqrg resprppepa tdsaskpaep tdvptvdfgg
       61 aepqekaprs stektggdnd veessrssst vsqrrkriss tsslvkssvs vpseshplst
      121 inqeapqpta tstkekqpcs dryriykaqk lremlkeelr kekkqwknky ainesqrppd
      181 rskmtmrdfi yylpdnnpmt ssleqekkte kpstpvqtre qegkstpnae dnemeeetdd
      241 gpllvprvkv aedgsiilde esltvevlrt kgpcvveend pifergsttt yssfrknyys
      301 kpwsnketdm fflaismvgt dfsmigqlfp hrarieiknk fkreektngw ridkafqekr
      361 pfdfdffahl lqkvlaeeek rkqksvknhs lkekkstkpr knvkvkkvac egvnndpdes
      421 mssrisdter sqkdaqtvee esltlsreda eqvalevdln qkkrrrkkqd ganelgvnnl
      481 lenatvqagp skgekhknkc qairpelkeg ecskeqmlsc tqnidgivgf astekvekrt
      541 dpilslsnqq datsvatess esstsdlpsf evgiralcev nnaegsciee rnvdlknnsl
      601 eidqtenvkp mlrgrfqrpk pnlsragkks vlsqgktese sknshsktsv eknhvekdkm
      661 ntldilrmet terenpeaet vsvlgekncl qegsqlkalr pvqvrgrlqk pkpnagkaae
      721 rkeilisqee iganveknen escadrdtpq hmedqsrkdf eeedvilqpe kndsfqnvqp
      781 depkvlnecl svqennkank lnqvpilrtr fqkpkpnigr gtgrreissk eevlekilvs
      841 gemaaalret vrldtspkem vpaeintkem qsdlketgrr aisprekild viddtiemet
      901 glkamgreic lrektpevid ateeidkdle eagrreispq kngpeevkpl gevetdlkat
      961 gnessprekt pevtdateei dknleetgrr kisprengpe evkpvdemet dlnatgress
     1021 prektpevid ateeidleet erevspqeng leevkplgem etdlkatgrd sfprgktpev
     1081 idaieeieid leetereisp qengleevkp lgemqtdlka tgreisprek tpevidatee
     1141 idkdleetgr reispeengp eevkpvdeme tdlkttgreg ssrektrevi daaevietdl
     1201 eetereispq engpeevkpv gkmetdlkei reeisqrekv laefsairek eidlketgkr
     1261 dipimekvsg kmavveemea dlketgkenf rergseeicv teekvaelkq tgktdispre
     1321 neleetstsr qtdthlmqsg sndfsavpsl diqnissevl smmhtpveek rnsekevssh
     1381 fshfkissqt hesdktevqg iqspdvpeqf sdinlskslp qeqkpleikp apfvrsrfkr
     1441 pkpnlaraal kretteseky iyekksetkk metivmqenn eqtdtlpsqh deaslmisre
     1501 kdtlghrnee avilpctqte rnlspsnsce pkeesqsapv qkndsvvsvg tnnvntfqqe
     1561 mkesviqtar qvrgrlqrpr pnirktgqrq ivdkgeakgi ikegrtilpk detekkvltv
     1621 snsqieteie vpssavpehr myenqsqvvl venlhvnktn etirhenkpy vpssaqmtrr
     1681 kfqkakpnlg rahskkeepv lekvttdqsk egkpedhllq kgasntqlll kekaelltsl
     1741 evsarkdcvg skesalakid aeleevgpsr rvgeetvgdn spssvveeqy lnkltscpqp
     1801 lnetsyskia ldgkttisst seyernrger rshkkfkpnv trgrgskrvr gktskkepra
     1861 skamlvtlra sqeedddadd fesdyeeesy hlapeevnka pvfvpvglrs pepvsaqiee
     1921 tmeeleitvn vpdvgciavv ehelpntdvt teemkqeenl svpfemttse hiqdepgtnd
     1981 gsteaaitll tmgdlvlqse isseqgdvgv ciiphvhskd kshipssldn vnhkivhecq
     2041 elsspvitts pasfeenkiv leeqssreei slmekvkena tptrntiskv tsnlrirsrl
     2101 akpkpnlekt lgtnrlddyq evsslcvtkg aemetqrete knaskatele nknlgpvtta
     2161 enkdqsklac vhgikgtsis sevnlterne nqeessqevh mlsvapvass etgpctlgld
     2221 rglgensvee pqikdskgds vltlpvpeyt ptsipevqqe niinpqdltv nlvanvpqdg
     2281 edeqafiltl veipanavee ftdataqfmp npllpapilv ksvnteergd msiclpatsv
     2341 gqdamglsis grdnskkppd nldlvsrkrf qcrldkndhi ppakkrsltl rddcqeytte
     2401 vhskeltnvf eetgeshkgq difltsgstl ttpepqrqqv eaafqsrgsr spdacmdknv
     2461 pqlpqdemiv sdkeertdaa pksqqmdsrt ssskaslsrp grrplgflsl icsknslesd
     2521 epmqvhskkr lkplipglrk klkrsnpfne sqeknressd llpspsvitt qsenisssat
     2581 qvscdqpllk egyksaqkra pqgeattvse yffndifiev dete
//
LOCUS       XP_054189487             490 aa            linear   PRI 20-MAR-2023
DEFINITION  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform
            X29 [Homo sapiens].
ACCESSION   XP_054189487
VERSION     XP_054189487.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333512.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571061.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..490
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..490
                     /product="leukocyte immunoglobulin-like receptor subfamily
                     B member 4 isoform X29"
                     /calculated_mol_wt=53605
     CDS             1..490
                     /gene="LILRB4"
                     /gene_synonym="B4; CD85K; ILT-3; ILT3; LIR-5; LIR5"
                     /coded_by="XM_054333512.1:218..1690"
                     /db_xref="GeneID:11006"
                     /db_xref="HGNC:HGNC:6608"
                     /db_xref="MIM:604821"
ORIGIN      
        1 meqphdekdp askrphpvcl fvlpalrthp saqlgplggd amiptftall clglslgprt
       61 hmqagplpkp tlwaepgsvi swgnsvtiwc qgtleareyr ldkeespapw drqnplepkn
      121 karfsipsmt edyagryrcy yrspvgwsqp sdplelvmtg ayskptlsal psplvtsgks
      181 vtllcqsrsp mdtflliker aahpllhlrs ehgaqqhqae fpmspvtsvh ggtyrcfssh
      241 gfshyllshp sdplelivsg slegprpspt rsvstaagpe dqplmptgsv phsglrrhwe
      301 vligvlvvsi lllslllfll lqhwrqgkhr tlaqrqadfq rppgaaepep kdgglqrrss
      361 paadvqgenf sgaavkdtqp edgvemdtrq sphdedpqav tyakvkhsrp rremasppsp
      421 lsgefldtkd rqaeedrqmd teaaaseapq dvtyaqlhsf tlrqkatepp psqegaspae
      481 psvyatlaih
//
LOCUS       XP_054192947             167 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin-fold modifier-conjugating enzyme 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054192947
VERSION     XP_054192947.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336972.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..167
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..167
                     /product="ubiquitin-fold modifier-conjugating enzyme 1
                     isoform X2"
                     /calculated_mol_wt=19327
     CDS             1..167
                     /gene="UFC1"
                     /gene_synonym="HSPC155; NEDSG"
                     /coded_by="XM_054336972.1:598..1101"
                     /db_xref="GeneID:51506"
                     /db_xref="HGNC:HGNC:26941"
                     /db_xref="MIM:610554"
ORIGIN      
        1 madeatrrvv seipvlktna gprdrelwvq rlkeeyqsli ryvennknad ndwfrlesnk
       61 egtrwfgkcw yihdllkyef diefdipity pttapeiavp eldgktakmy rggkicltdh
      121 fkplwarnvp kfglahlmal glgpwlavei pdliqkgviq hkekcnq
//
LOCUS       XP_054226155             266 aa            linear   PRI 20-MAR-2023
DEFINITION  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X7 [Homo
            sapiens].
ACCESSION   XP_054226155
VERSION     XP_054226155.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370180.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..266
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..266
                     /product="uridine diphosphate glucose pyrophosphatase
                     NUDT22 isoform X7"
                     /calculated_mol_wt=28416
     CDS             1..266
                     /gene="NUDT22"
                     /coded_by="XM_054370180.1:59..859"
                     /db_xref="GeneID:84304"
                     /db_xref="HGNC:HGNC:28189"
ORIGIN      
        1 mdpevtlllq cpggglpqeq iqaelspahd rrplpggdea itaiwetrlk aqpwlfdapk
       61 frlhsatlap igsrgpqlll rlgltsyrdf lgtnwsssaa wlrqqgatdw gdtqayladp
      121 lgvgaalata ddflvflrrs rqvaeapglv dvpgghpepq alcpggspqh qdlagqlvvh
      181 elfssvlqei cdevnlpllt lsqplllgia rnetsagras aefyvqcslt seqvrkhyls
      241 ggpeahestg iffvetqrgs gaeaap
//
LOCUS       XP_054227346            4477 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein axonemal heavy chain 10 isoform X6 [Homo sapiens].
ACCESSION   XP_054227346
VERSION     XP_054227346.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371371.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4477
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..4477
                     /product="dynein axonemal heavy chain 10 isoform X6"
                     /calculated_mol_wt=515944
     CDS             1..4477
                     /gene="DNAH10"
                     /gene_synonym="SPGF56"
                     /coded_by="XM_054371371.1:37..13470"
                     /db_xref="GeneID:196385"
                     /db_xref="HGNC:HGNC:2941"
                     /db_xref="MIM:605884"
ORIGIN      
        1 mddlrvlwmr drvyaafgit dpqlfedlln rddgqgedli lhflnqasee egpsalfiyr
       61 tmvpeeveve ideipvlsee geeeeetysq kvesvdkvra krvslrtesl gqplnredee
      121 mdkeiseklp skrtakhime kmhlhmlctp lpeefldqnv vfflrntkea iseatdmkea
      181 meimpetley giinanvlhf lkniicqvfl palsfnqhrt sttvgvtpge vsnssehesd
      241 lppmpgeave yhsiqlirde flmnvqkfas niqrtmqqle geiklempii svegevsdla
      301 adpetvdile qcvinwlnqi staveaqlkk tpqgkgplae iefwrernat lsalheqtkl
      361 pivrkvldvi kesdsmlvan lqpvftelfk fhteasdnvr flstveryfk nithgsgfhv
      421 vldtipamms alrmvwiisr hynkdermip lmeriaweia ervcrvvnlr tlfkenrasa
      481 qsktlearnt lrlwkkayfd trakieasgr edrwefdrkr lfertdymat icqdlsdvlq
      541 vleefynifg pelkavtgdp kriddvlcrv dglvtpmenl tfdpfsikss qfwkyvmdef
      601 kievlvieke akhfidesfk tlrsaeaafd mllkfkhirs reavnrqmmm kfndilaqyc
      661 keidiinkif vqnlenpply knhppvagai ywerslffri khtilrfqev qeildsdrgq
      721 evkqkylevg rtmkeyedrk yeqwmevteq vlpalmkksl ltkssiatee pstlergavf
      781 ainfspalre iinetkyleq lgftvpelar nvalqedkfl rytagiqrml dhyhmligtl
      841 ndaesvllkd hsqellrvfr sgykrlnwns lgigdyitgc kqaigkfesl vhqihknadd
      901 issrltliea inlfkypaak seeelpgvke ffehierera sdvdhmvrwy laigplltkv
      961 eglvvhtntg kapklasyyk ywekkiyevl tklilknlqs fnslilgnvp lfhtetilta
     1021 peiilhpntn eidkmcfhcv rncveitkhf vrwmngscie cppqkgeeee vviinfyndi
     1081 slnpqiieqa vmipqnvhri linlmkylqk wkryrplwkl dkaivmekfa akkppcvayd
     1141 eklqfyskia yevmrhplik dehcirlqlr hlantvqena kswvislgkl lnesakeely
     1201 nlheemehla knlrkipntl edlkfvlati aeirskslvm elryrdvqer yrtmamynlf
     1261 ppdaekelvd kiesiwsnlf ndsvnvehal gdikrtftel trgeimnyrv qieefakrfy
     1321 segpgsvgdd ldkgvellgv yerelarhek srqelanaek lfdlpitmyp ellkvqkems
     1381 glrmiyelye glkvakeews qtlwinlnvq ilqegiegfl ralrklprpv rglsvtyyle
     1441 akmkafkdsi pllldlknea lrdrhwkelm ektsvffemt etftlenmfa melhkhtdvl
     1501 neivtaaike vaiekavkei ldtwenmkft vvkyckgtqe rgyilgsvde iiqslddntf
     1561 nlqsisgsrf vgpflqtvhk wektlslige vieiwmlvqr kwmylesifi ggdirsqlpe
     1621 eakkfdnidk vfkrimgetl kdpvikrcce apnrlsdlqn vseglekcqk slndyldskr
     1681 nafprfffis ddellsilgs sdplcvqehm ikmydniasl rfndgdsgek lvsamisaeg
     1741 evmefrkivr aegrvedwmt avlnemrrtn rlitkeaifr ycedrsrvdw mllyqgmvvl
     1801 aasqvwwtwe vedvfhkaqk gekqamknyg rkmhrqidel vtritmplsk ndrkkyntvl
     1861 iidvhardiv dsfirgsile arefdwesql rfywdrepde lnirqctgtf gygyeymgln
     1921 grlvitpltd riyltltqal smylggapag pagtgktett kdlakalgll cvvtncgegm
     1981 dyravgkifs glaqcgawgc fdefnridas vlsvissqiq tirnalihql ttfqdvvlmr
     2041 alrdmnlpkf vfedvplflg lisdlfpgld cprvrypdfn daveqvleen gyavlpiqvd
     2101 kvvqmfetml trhttmvvgp trggksvvin tlcqaqtklg lttklyilnp kavsvielyg
     2161 ildpttrdwt dgvlsnifre inkptdkker kyilfdgdvd alwvenmnsv mddnrlltla
     2221 ngerirlqah callfevgdl qyaspatvsr cgmvyvdpkn lkyrpywkkw vnqipnkveq
     2281 ynlnslfeky vpylmdvive givdgrqaek lktivpqtdl nmvtqlakml dallegeied
     2341 ldllecyfle alycslgasl ledgrmkfde yikrlaslst vdtegvwanp gelpgqlptl
     2401 ydfhfdnkrn qwvpwsklvp eyihaperkf inilvhtvdt trttwileqm vkikqpvifv
     2461 gesgtsktat tqnflknlse etnivlmvnf ssrttsmdiq rnleanvekr tkdtygppmg
     2521 krllvfmddm nmprvdeygt qqpiallkll lekgylydrg kelncksird lgfiaamgka
     2581 gggrnevdpr fislfsvfnv pfpseeslhl iyssilkght stfhesivav sgkltfctla
     2641 lyknivqdlp ptpskfhyif nlrdlsrvfn glvltnperf qtvaqmvrvw rneclrvfhd
     2701 rlisetdkql vqqhigslvv ehfkddvevv mrdpilfgdf qmalhegepr iyediqdyea
     2761 akalfqeile eynesntkmn lvlfddaleh ltrvhriirm drghallvgv ggsgkqslsr
     2821 laaftascev feillsrgys ensfredlks lylklgienk amiflftdah vaeegfleli
     2881 nnmltsgivp alfseeekes ilsqigqeal kqgmgpakes vwqyfvnksa nnlhivlgms
     2941 pvgdtlrtwc rnfpgmvnnt gidwfmpwpp qalhavaksf lgynpmipae nienvvkhvv
     3001 lvhqsvdhys qqflqklrrs nyvtpknyld fintysklld ektqcniaqc krldggldkl
     3061 keatiqldel nqklaeqkiv laeksaacea lleeiavnta vaeekkklae ekameieeqn
     3121 kviamekaea ettlaevmpi leaaklelqk ldksdvteir sfakppkqvq tvcecilimk
     3181 gykelnwkta kgvmsdpnfl rslmeidfds itqsqvknik gllktlnttt eemeavskag
     3241 lgmlkfveav mgycdvfrei kpkrekvarl ernfyltkre leriqnelaa iqkeletlga
     3301 kyeaailekq klqeeaeime rrliaadkli sglgsenirw lndldelmhr rvkllgdcll
     3361 caaflsyega ftwefrdemv nriwqndile reiplsqpfr leslltddve isrwgsqglp
     3421 pdelsvqngi lttrasrfpl cidpqqqaln wikrkeeknn lrvasfndpd flkqlemsik
     3481 ygtpflfrdv deyidpvidn vleknikvsq grqfiilgdk evdydsnfrl ylntklanpr
     3541 yspsvfgkam vinytvtlkg ledqllsvlv ayerreleeq rehliqetse nknllkdled
     3601 sllrelatst gnmldnvdlv htleetkska tevseklkla ektaldidrl rdgyrpaarr
     3661 gailffvlse malvnsmyqy sliaflevfr lslkkslpds ilmkrlrnim dtltfsiynh
     3721 gctglferhk llfsfnmtik ieqaegrvpq eeldfflkgn islekskrkk pcawlsdqgw
     3781 ediillsemf sdnfgqlpdd vennqtvwqe wydldsleqf pvplgydnni tpfqkllilr
     3841 cfrvdrvyra vtdyvtvtmg ekyvqppmis feaifeqstp hspivfilsp gsdpatdlmk
     3901 laersgfggn rlkflamgqg qekvalqlle tavargqwlm lqnchllvkw lkdleksler
     3961 itkphpdfrl wlttdptkgf pigilqkslk vvteppnglk lnmratyfki shemldqcph
     4021 pafkplvyvl affhavvqer rkfgkigwnv yydfnesdfq vcmeilntyl tkafqqrdpr
     4081 ipwgslkyli gevmyggrai dsfdrrilti ymdeylgdfi fdtfqpfhff rnkevdykip
     4141 vgdekekfve aiealplant pevfglhpna eigyytqaar dmwahllelq pqtgesssgi
     4201 srddyigqva keienkmpkv fdldqvrkrl gtglsptsvv llqelerfnk lvvrmtksla
     4261 elqralagev gmsnelddva rslfighipn iwrrlapdtl kslgnwmvyf lrrfsqymlw
     4321 vtesepsvmw lsglhipesy ltalvqatcr kngwpldrst lftqvtkfqd adevneragq
     4381 gcfvsglyle gadwdiekgc likskpkvlv vdlpilkiip ieahrlklqn tfrtpvytts
     4441 mrrnamgvgl vfeadlfttr hishwvlqgv cltlnsd
//
LOCUS       XP_054233722             647 aa            linear   PRI 20-MAR-2023
DEFINITION  putative golgin subfamily A member 8F/8G isoform X4 [Homo sapiens].
ACCESSION   XP_054233722
VERSION     XP_054233722.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377747.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..647
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..647
                     /product="putative golgin subfamily A member 8F/8G isoform
                     X4"
                     /calculated_mol_wt=72696
     CDS             1..647
                     /gene="GOLGA8G"
                     /gene_synonym="GOLGA8F"
                     /coded_by="XM_054377747.1:63..2006"
                     /db_xref="GeneID:283768"
                     /db_xref="HGNC:HGNC:25328"
ORIGIN      
        1 mwpqarlpph pamaeetrqs klaaakrklk eywqrnspgv pagakrnrkt ngsihetats
       61 ggchspgdsa tgihgespts satlkdlesp cqelavvpds rsvkvsqlkn tikslkqqnk
      121 qvehqleeek kannekqkae relevqiqrl niqkgklntd lyhtkrslry feeeskdlav
      181 rlqhslqrkg eleralsavt atqkkkaerf ssrskarmew kleqsmreqa llkaqltqlk
      241 eslkevqler deyaehlkge rarwqqrmrk msqevcslkk ekkhdkyrve klerslsklk
      301 hqmaeplppe ppavpsevel qhlrkelerv agelqaqvey nqrisllneg qkerlreqee
      361 rlqeqqerlp eqeerlqqla epqnsfkeln nenksvlqle qqvkelqekl gkerleaasq
      421 qkqqltaqls lmalpgegdg gghldsegee aprpipsipq dlesreamsg fmdhleekad
      481 lselvekeel gffqyyrerc hqkvyhpitk pggsakdaap ggghhqagpg qggdegeaag
      541 aagdgvaagg dykghskflv taqnpaheps pgapapqelg aahkhgdlce vsltdsvepv
      601 qgearegsph dnptaqpivq dhqehpglgs nccvpffcwa wlprrrr
//
LOCUS       XP_054236573             530 aa            linear   PRI 20-MAR-2023
DEFINITION  protein BANP isoform X3 [Homo sapiens].
ACCESSION   XP_054236573
VERSION     XP_054236573.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380598.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..530
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..530
                     /product="protein BANP isoform X3"
                     /calculated_mol_wt=57655
     CDS             1..530
                     /gene="BANP"
                     /gene_synonym="BEND1; SMAR1; SMARBP1"
                     /coded_by="XM_054380598.1:244..1836"
                     /db_xref="GeneID:54971"
                     /db_xref="HGNC:HGNC:13450"
                     /db_xref="MIM:611564"
ORIGIN      
        1 mmsehdladv vqiavedlsp dhpvvlenhv vtdedepalk rqrleincqd psiksflysi
       61 nqticlrlds ieaklqalea tcksleekld lvtnkqhspi qvpmvagspl gatqtcnkvr
      121 cvvpqttvil nndrqnaiva kmedplsnra pdslenvisn avpgrrqnti vvkvpgqeds
      181 hhedgesgse asdsvsscgq agsqsigsnv tlitlnseed ypngtwlgde nnpemrvrca
      241 iipsdmlhis tncrtaekma ltlldylfhr evqavsnlsg qgkhgkkqld pltiygirch
      301 lfykfgites dwyrikqsid skcrtawrrk qrgqslavks fsrrtpnsss ycpsepmmst
      361 pppaselpqp qpqpqalhya lanaqqvqih qigedgqvqv ipqghlhiaq vpqgeqvqit
      421 qdsegnlqih hvgqdgqlle atripcllap svfkassgqv lqgaqliava ssdpaaagvd
      481 gsplqgsdiq vqyvqlapvs dhtagaqtae alqptlqpem qlehgaiqiq
//
LOCUS       XP_054169852             149 aa            linear   PRI 20-MAR-2023
DEFINITION  Golgi apparatus membrane protein TVP23 homolog A isoform X2 [Homo
            sapiens].
ACCESSION   XP_054169852
VERSION     XP_054169852.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313877.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..149
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..149
                     /product="Golgi apparatus membrane protein TVP23 homolog A
                     isoform X2"
                     /calculated_mol_wt=16588
     CDS             1..149
                     /gene="TVP23A"
                     /gene_synonym="FAM18A; YDR084C"
                     /coded_by="XM_054313877.1:681..1130"
                     /db_xref="GeneID:780776"
                     /db_xref="HGNC:HGNC:20398"
ORIGIN      
        1 mvllllsldf wsvknvtgrl lvglrwwnqi dedgkshwif earkvspnsi aateaearif
       61 wlgliicpmi wivfffstlf slklkwlalv vagislqaan lygyilckmg gnsdigkvta
      121 sflsqtvfqt acpgdfqkpg legleihqh
//
LOCUS       XP_054172955             660 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor Sp2 isoform X6 [Homo sapiens].
ACCESSION   XP_054172955
VERSION     XP_054172955.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316980.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..660
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..660
                     /product="transcription factor Sp2 isoform X6"
                     /calculated_mol_wt=69776
     CDS             1..660
                     /gene="SP2"
                     /coded_by="XM_054316980.1:409..2391"
                     /db_xref="GeneID:6668"
                     /db_xref="HGNC:HGNC:11207"
                     /db_xref="MIM:601801"
ORIGIN      
        1 maataavsps dylqpaastt qdsqpsplal laatcskigp paveaavtpp appqptprkl
       61 vpikpaplpl spgknsfgil sskgnilqiq gsqlsasypg gqlvfaiqnp tminkgtrsn
      121 aniqyqavpq iqasnsqtiq vqpnltnqiq iipgtnqaii tpspsshkpv pikpapiqks
      181 sttttpvqsg anvvkltggg gnvtltlpvn nlvnasdtga ptqlltespp tplsktnkka
      241 rkkslpasqp pvavaeqvet vliettadni iqagnnlliv qspgggqpav vqqvqvvppk
      301 aeqqqvvqip qqalrvvqaa satlptvpqk psqnfqiqaa eptptqvyir tpsgevqtvl
      361 vqdsppataa atsnttcssp asraphlsgt skkhsaailr kerplpkiap agsiislnaa
      421 qlaaaaqamq tiningvqvq gvpvtitntg gqqqltvqnv sgnnltisgl sptqiqlqme
      481 qalagetqpg ekrrrmactc pnckdgekrs geqgkkkhvc hipdcgktfr ktsllrahvr
      541 lhtgerpfvc nwffcgkrft rsdelqrhar thtgdkrfec aqcqkrfmrs dhltkhykth
      601 lvtknfclrq nlqlgssasf vfslgelgeg tpeegavvsq sdphwdqeli gtqglrccad
//
LOCUS       XP_054175008             366 aa            linear   PRI 20-MAR-2023
DEFINITION  protein SSXT isoform X2 [Homo sapiens].
ACCESSION   XP_054175008
VERSION     XP_054175008.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319033.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 10% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..366
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..366
                     /product="protein SSXT isoform X2"
                     /calculated_mol_wt=40034
     CDS             1..366
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /coded_by="XM_054319033.1:472..1572"
                     /db_xref="GeneID:6760"
                     /db_xref="HGNC:HGNC:11340"
                     /db_xref="MIM:600192"
ORIGIN      
        1 mlhtnlvyla tiadsnqnmq sllpapptqn mpmgpggmnq sgppppprsh nmpsdgmvgg
       61 gppaphmqnq mngqmpgpnh mpmqgpgpnq lnmtnssmnm pssshgsmgg ynhsvpssqs
      121 mpvqnqmtms qgqpmgnygp rpnmsmqpnq gpmmhqqpps qqynmpqggg qhyqgqqppm
      181 gmmgqvnqgn hmmgqrqipp yrppqqgppq qysgqedyyg dqyshggqgp pegmnqqyyp
      241 dghndygyqq psypeqgydr pyedssqhyy eggnsqygqq qdayqgpppq qgyppqqqqy
      301 pgqqgypgqq qgygpsqggp gpqypnypqg qgqqyggyrp tqpgppqppq qrpygydqgq
      361 ygnyqq
//
LOCUS       XP_054175994             994 aa            linear   PRI 20-MAR-2023
DEFINITION  AP-2 complex subunit alpha-1 isoform X1 [Homo sapiens].
ACCESSION   XP_054175994
VERSION     XP_054175994.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320019.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..994
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..994
                     /product="AP-2 complex subunit alpha-1 isoform X1"
                     /calculated_mol_wt=109536
     CDS             1..994
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /coded_by="XM_054320019.1:1164..4148"
                     /db_xref="GeneID:160"
                     /db_xref="HGNC:HGNC:561"
                     /db_xref="MIM:601026"
ORIGIN      
        1 metrgrqegw rggcftdlse rawdldevvi vevlktcseg kskeaeikri nkelanirsk
       61 fkgdkaldgy skkkyvckll fifllghdid fghmeavnll ssnkytekqi gylfisvlvn
      121 snselirlin naikndlasr nptfmclalh cianvgsrem geafaadipr ilvagdsmds
      181 vkqsaalcll rlykaspdlv pmgewtarvv hllndqhmgv vtaavslitc lckknpddfk
      241 tcvslavsrl srivssastd lqdytyyfvp apwlsvkllr llqcyppped aavkgrlvec
      301 letvlnkaqe ppkskkvqhs naknailfet isliihydse pnllvracnq lgqflqhret
      361 nlrylalesm ctlassefsh eavkthidtv inalkterdv svrqraadll yamcdrsnak
      421 qivsemlryl etadyairee ivlkvailae kyavdyswyv dtilnliria gdyvseevwy
      481 rvlqivtnrd dvqgyaaktv fealqapach enmvkvggyi lgefgnliag dprssppvqf
      541 sllhskfhlc svatrallls tyikfinlfp etkatiqgvl ragsqlrnad velqqravey
      601 ltlssvastd vlatvleemp pfperessil aklkrkkgpg agsalddgrr dpssndingg
      661 meptpstvst pspsadllgl raapppaapp asagagnllv dvfdgpaaqp slgptpeeaf
      721 lseleppape spmalladpa paadpgpedi gppipeadel lnkfvcknng vlfenqllqi
      781 gvksefrqnl grmylfygnk tsvqfqnfsp tvvhpgdlqt qlavqtkrva aqvdggaqvq
      841 qvlnieclrd fltppllsvr fryggapqal tlklpvtink ffqptemaaq dffqrwkqls
      901 lpqqeaqkif kanhpmdaev tkakllgfgs alldnvdpnp enfvgagiiq tkalqvgcll
      961 rlepnaqaqm yrltlrtske pvsrhlcell aqqf
//
LOCUS       XP_054177377             121 aa            linear   PRI 20-MAR-2023
DEFINITION  kallikrein-15 isoform X4 [Homo sapiens].
ACCESSION   XP_054177377
VERSION     XP_054177377.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321402.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..121
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..121
                     /product="kallikrein-15 isoform X4"
                     /calculated_mol_wt=13776
     CDS             1..121
                     /gene="KLK15"
                     /gene_synonym="ACO; HSRNASPH"
                     /coded_by="XM_054321402.1:80..445"
                     /db_xref="GeneID:55554"
                     /db_xref="HGNC:HGNC:20453"
                     /db_xref="MIM:610601"
ORIGIN      
        1 mwllltlsfl lastaaqdgd kllegdecap hsqpwqvaly ergrfncgas lisphwvlsa
       61 ahcqsrfmrv rlgehnlrkr dgpeqlrtts rviphpryea rshrndimll rlvqparlnp
      121 q
//
LOCUS       XP_054177453             276 aa            linear   PRI 20-MAR-2023
DEFINITION  kallikrein-10 isoform X1 [Homo sapiens].
ACCESSION   XP_054177453
VERSION     XP_054177453.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321478.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..276
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..276
                     /product="kallikrein-10 isoform X1"
                     /calculated_mol_wt=30007
     CDS             1..276
                     /gene="KLK10"
                     /gene_synonym="NES1; PRSSL1"
                     /coded_by="XM_054321478.1:96..926"
                     /db_xref="GeneID:5655"
                     /db_xref="HGNC:HGNC:6358"
                     /db_xref="MIM:602673"
ORIGIN      
        1 mraphlhlsa asgaralakl lpllmaqlwa aeaallpqnd trldpeayga pcargsqpwq
       61 vslfnglsfh cagvlvdqsw vltaahcgnk plwarvgddh llllqgeqlr rttrsvvhpk
      121 yhqgsgpilp rrtdehdlml lklarpvvpg prvralqlpy rcaqpgdqcq vagwgttaar
      181 rvkynkgltc ssitilspke cevfypgvvt nnmicagldr gqdpcqsdsg gplvcdetlq
      241 gilswgvypc gsaqhpavyt qickymswin kvirsn
//
LOCUS       XP_054196772             415 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of microtubule dynamics protein 2 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054196772
VERSION     XP_054196772.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340797.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..415
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..415
                     /product="regulator of microtubule dynamics protein 2
                     isoform X6"
                     /calculated_mol_wt=47895
     CDS             1..415
                     /gene="RMDN2"
                     /gene_synonym="BLOCK18; FAM82A; FAM82A1; PRO34163;
                     PYST9371; RMD-2; RMD2; RMD4"
                     /coded_by="XM_054340797.1:156..1403"
                     /db_xref="GeneID:151393"
                     /db_xref="HGNC:HGNC:26567"
                     /db_xref="MIM:611872"
ORIGIN      
        1 mpystnkeli lgimvgtagi sllllwyhkv rkpgiamklp eflslgntfn sitlqdeihd
       61 dqgttvifqe rqlqilekln elltnmeelk eeirflkeai pkleeyiqde lggkitvhki
      121 spqhrarkrr lptiqssats nsseeaeseg gyitantdte eqsfpvpkaf ntrveelnld
      181 vllqkvdhlr msesgksesf ellrdhkekf rdeiefmwrf araygdmyel stntqekkhy
      241 anigktlser ainrapmngh chlwyavlcg yvsefeglqn kinyghlfke hldiaikllp
      301 eepflyylkg rycytvskls wiekkmaatl fgkipsstvq ealhnflkae elcpgysnpn
      361 ymylakcytd leenqnalkf cnlalllptv tkedkeaqke mqkimtslkr lrktk
//
LOCUS       XP_054199710            1888 aa            linear   PRI 20-MAR-2023
DEFINITION  RANBP2-like and GRIP domain-containing protein 2 isoform X9 [Homo
            sapiens].
ACCESSION   XP_054199710
VERSION     XP_054199710.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343735.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1888
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1888
                     /product="RANBP2-like and GRIP domain-containing protein 2
                     isoform X9"
                     /calculated_mol_wt=212152
     CDS             1..1888
                     /gene="RGPD2"
                     /gene_synonym="NUP358; RANBP2L2; RGP2"
                     /coded_by="XM_054343735.1:2..5668"
                     /db_xref="GeneID:729857"
                     /db_xref="HGNC:HGNC:32415"
                     /db_xref="MIM:612705"
ORIGIN      
        1 mpqpstpldg vsapkplskl lgsldevlll fpvpelrdss klhdslyned ctfqqlgtyi
       61 dsirdpvhnr vtlelsngsm vritvpeiat selvqtclqt ikfilpkeia vqmlvkwynv
      121 hsapvgpsyh sewnlfvtcl mnvmgfntdr lawtrnklrg fyfaklyyea keydlakkyv
      181 ctylsvqerd prahrflgll yeleenteka vecyrrslel nppqkdlvlk iaellckndv
      241 tdgrakywve raaklfpgsp aiyklkehll dcegedgwnk lfdwiqsely vrpddvhmni
      301 rlvelyrsnk rlkdavarch eaernialrs slewnscvvq tlkeyleslq clesdksdwr
      361 atntdlllay anlmlltlst rdvqesrell esfdsalqsa ksslggndel satflemkgh
      421 fymhagslll kmgqhgnnvq wqalselaal cyviafqvpr pkiklikgea gqnllemmac
      481 drlsqsghml lnlsrgkqdf lkevvetfan ksgqsvlyna lfssqsskdt sflgsddign
      541 idvqepeled larydvgaiq ahngslqhlt wlglqwnslp alpgirkwlk qlfhhlpqet
      601 srletnapes icildlevfl lgvvytshlq lkekcnshhs syqplclplp vckrlcterq
      661 kswwdavctl ihrkavpgns aelrlvvqhe intlraqekh glqpallvhw akclqkmgrg
      721 lnssydqqey igrsvhywkk vlpllkiikk nsipepidpl fkhfhsvdiq aseiveyeed
      781 ahitfailda vhgniedavt afesiksvvs ywnlalifhr kaediendav fpeeqeeckn
      841 ylrktrdyli kiiddsdsnl svvkklpvpl esvkemlksv mqeledyseg gplykngslr
      901 nadseikhst psptkyslsp sksykyspkt pprwaedqns lrkmicqevk aitklnssks
      961 asrhrwpten ygpdsvpdgy qgsqtfhgap ltvattgpsv yysqspayns qyllrpaanv
     1021 tptkgssnte fkstkegfsi avsadgfkfg isepgnqekk sekplendtg fqaqdisgqk
     1081 ngrgvifgqt sstftfadva kstsgegfqf gkkdpnfkgf sgageklfss qcgkmankan
     1141 tsgdfekddd acktedsddi hfepvvqmpe kvelvtgeeg ekvlysqgvk lfrfdaeisq
     1201 wkerglgnlk ilknevngkp rmlmrrdqvl kvcanhwitt tmnlkplsgs drawmwlasd
     1261 fsdgdakler laaqfktpel aeefkqkfee cqrllldipl qtphklvdtg raakliqrae
     1321 emksglkdfk tfltndqtkv teeenkgsgt gaagasdtti kpnpentgpt lewdnydlre
     1381 dalddnvsss svhdsplass pvrknifrfd esttgfnfsf ksalslsksp aklnqsgtsv
     1441 gtdeesdvtq eeerdgqyfe pvvplpdlve vssgeeneqv vfshmaelyr ydkdvgqwke
     1501 rgigdikilq nydnkqvriv mrrdqvlklc anhritpdms lqnmkgterv wvwtacdfad
     1561 gerkvehlav rfklqdvads fkkifdeakt aqekdslitp hvsrsstpre spcgkiavav
     1621 leettrertd viqgddvada asevevssts etttkavvsp pkfvfgsesv krifsseksn
     1681 pfafgnssat gslfgfsfna plksndsets svaqsgsesk vepkkcelsk nsdieqssds
     1741 kvknlsasfp meessinytf ktpekepplw haeftkeelv qklssttksa dqlngllret
     1801 eatsavlmeq ikllkseirr lernqeesaa nvehlknvll qfiflkpgse resllpvint
     1861 mlqlspeekg klaavaqglq etsipkkk
//
LOCUS       XP_054179000              95 aa            linear   PRI 20-MAR-2023
DEFINITION  barrier-to-autointegration factor-like protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_054179000
VERSION     XP_054179000.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323025.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..95
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..95
                     /product="barrier-to-autointegration factor-like protein
                     isoform X1"
                     /calculated_mol_wt=10814
     CDS             1..95
                     /gene="BANF2"
                     /gene_synonym="BAF-L; BAF2; BAFL; C20orf179"
                     /coded_by="XM_054323025.1:262..549"
                     /db_xref="GeneID:140836"
                     /db_xref="HGNC:HGNC:16172"
ORIGIN      
        1 mfvqemddms prlraflsep igekdvcwvd gishelainl vtkginkayi llgqfllmhk
       61 neaefqrwli ccfgatecea qqtshclkew cacfl
//
LOCUS       XP_054179292             384 aa            linear   PRI 20-MAR-2023
DEFINITION  protein AAR2 homolog isoform X1 [Homo sapiens].
ACCESSION   XP_054179292
VERSION     XP_054179292.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323317.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..384
                     /product="protein AAR2 homolog isoform X1"
                     /calculated_mol_wt=43341
     CDS             1..384
                     /gene="AAR2"
                     /gene_synonym="C20orf4; CGI-23"
                     /coded_by="XM_054323317.1:510..1664"
                     /db_xref="GeneID:25980"
                     /db_xref="HGNC:HGNC:15886"
                     /db_xref="MIM:617365"
ORIGIN      
        1 maavqmdpel akrlffegat vvilnmpkgt efgidynswe vgpkfrgvkm ippgihflhy
       61 ssvdkanpke vgprmgffls lhqrgltvlr wstlreevdl spapesevea mranlqeldq
      121 flgpypyatl kkwisltnfi seatveklqp enrqicafsd vlpvlsmkht kdrvgqnlpr
      181 cgiecksyqe glarlpemkp ragteirfse lptqmfpega tpaeitkhsm dlsyaletvl
      241 nkqfpsspqd vlgelqfafv cfllgnvyea fehwkrllnl lcrseaammk hhtlyinlis
      301 ilyhqlgeip adffvdivsq dnfltstlqv ffssacsiav datlrkkaek fqahltkkfr
      361 wdfaaepedc apvvvelpeg iemg
//
LOCUS       XP_054179505             906 aa            linear   PRI 20-MAR-2023
DEFINITION  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1
            isoform X3 [Homo sapiens].
ACCESSION   XP_054179505
VERSION     XP_054179505.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323530.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..906
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..906
                     /product="1-phosphatidylinositol 4,5-bisphosphate
                     phosphodiesterase gamma-1 isoform X3"
                     /calculated_mol_wt=104681
     CDS             1..906
                     /gene="PLCG1"
                     /gene_synonym="NCKAP3; PLC-II; PLC1; PLC148; PLCgamma1"
                     /coded_by="XM_054323530.1:205..2925"
                     /db_xref="GeneID:5335"
                     /db_xref="HGNC:HGNC:9065"
                     /db_xref="MIM:172420"
ORIGIN      
        1 magaaspcan gcgpgapsda evlhlcrsle vgtvmtlfys kksqrperkt fqvkletrqi
       61 twsrgadkie gaidireike irpgktsrdf dryqedpafr pdqshcfvil ygmefrlktl
      121 slqatsedev nmwikgltwl medtlqaptp lqierwlrkq fysvdrnred risakdlknm
      181 lsqvnyrvpn mrflrerltd leqrsgdity gqfaqlyrsl mysaqktmdl pfleastlra
      241 gerpelcrvs lpefqqflld yqgelwavdr lqvqefmlsf lrdplreiee pyffldefvt
      301 flfskensvw nsqldavcpd tmnnplshyw issshntylt gdqfssessl eayarclrmg
      361 crcieldcwd gpdgmpviyh ghtlttkikf sdvlhtikeh afvaseypvi lsiedhcsia
      421 qqrnmaqyfk kvlgdtlltk pveisadglp spnqlkrkil ikhkklaegs ayeevptsmm
      481 ysendisnsi kngilyledp vnhewyphyf vltsskiyys eetssdqgne deeepkevss
      541 stelhsnekw fhgklgagrd grhiaerllt eycietgapd gsflvreset fvgdytlsfw
      601 rngkvqhcri hsrqdagtpk ffltdnlvfd slydlithyq qvplrcnefe mrlsepvpqt
      661 naheskewyh asltraqaeh mlmrvprdga flvrkrnepn syaisfraeg kikhcrvqqe
      721 gqtvmlgnse fdslvdlisy yekhplyrkm klrypineea lekigtaepd ygalyegrnp
      781 gfyveanpmp tfkcavkalf dykaqredel tftksaiiqn vekqeggwwr gdyggkkqlw
      841 fpsnyveemv npvalepere hldensplgd llrgvldvpa cqiawrrwpt gpwmllpthr
      901 rscrtg
//
LOCUS       XP_054205073            1095 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor A3 isoform X2 [Homo sapiens].
ACCESSION   XP_054205073
VERSION     XP_054205073.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349098.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1095
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1095
                     /product="adhesion G protein-coupled receptor A3 isoform
                     X2"
                     /calculated_mol_wt=121808
     CDS             1..1095
                     /gene="ADGRA3"
                     /gene_synonym="GPR125; PGR21; TEM5L"
                     /coded_by="XM_054349098.1:128..3415"
                     /db_xref="GeneID:166647"
                     /db_xref="HGNC:HGNC:13839"
                     /db_xref="MIM:612303"
ORIGIN      
        1 mplkrnnsky pplelpsfym tpshrqvvfe gdslpfqcma syidqdmqvl wyqdgrivet
       61 desqgifvek nmihncslia saltisniqa gstgnwgchv qtkrgnntrt vdivvlessa
      121 qycppervvn nkgdfrwprt lagitaylqc trnthgsgiy pgnpqderka wrrcdrggfw
      181 adddysrcqy andvtrvlym fnqmplnltn avatarqlla ytveaanfsd kmdvifvaem
      241 iekfgrftke ekskelgdvm vdiasnimla dervlwlaqr eakacsrivq clqriatyrl
      301 aggahvysty spnialeayv ikstgftgmt ctvfqkvaas drtglsdygr rdpegnldkq
      361 lsfkcnvsnt fsslalknti veasiqlpps lfspkqkrel rptddslykl qliafrngkl
      421 fpatgnstnl addgkrrtvv tpviltkidg vnvdthhipv nvtlrriahg adavaarwdf
      481 dllngqggwk sdgchilysd enittiqcys lsnyavlmdl tgselytqaa sllhpvvytt
      541 aiilllclla vivsyiyhhs lirislkswh mlvnlcfhif ltcvvfvggi tqtrnasicq
      601 avgiilhyst latvlwvgvt arniykqvtk kakrcqdpde ppppprpmlr fyligggipi
      661 ivcgitaaan iknygsrpna pycwmaweps lgafygpasf itfvncmyfl sifiqlkrhp
      721 erkyelkept eeqqrlaane ngeinhqdsm slslistsal enehtfhsql lgasltllly
      781 valwmfgala vslyypldlv fsfvfgatsl sfsaffvvhh cvnredvrla wimtccpgrs
      841 sysvqvnvqp pnsngtngea pkcpnssaes sctnksassf knssqgcklt nlqaaaaqch
      901 anslplnstp qldnsltehs mdndikmhva plevqfrtnv hssrhhknrs kghrasrltv
      961 lreyaydvpt svegsvqngl pksrlgnneg hsrsrrayla yrerqynppq qdssdacstl
     1021 pkssrnfekp vsttskkdal rkpavvelen qqksyglnla iqngpiksng qegpllgtds
     1081 tgnvrtglwk hettv
//
LOCUS       XP_054206303            1115 aa            linear   PRI 20-MAR-2023
DEFINITION  la-related protein 1B isoform X5 [Homo sapiens].
ACCESSION   XP_054206303
VERSION     XP_054206303.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350328.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1115
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1115
                     /product="la-related protein 1B isoform X5"
                     /calculated_mol_wt=126076
     CDS             1..1115
                     /gene="LARP1B"
                     /gene_synonym="LARP2"
                     /coded_by="XM_054350328.1:412..3759"
                     /db_xref="GeneID:55132"
                     /db_xref="HGNC:HGNC:24704"
ORIGIN      
        1 mstrapmpaa hsredppavt aeresllaaa nrpaeqpppp ecegkeaare eraaaatsag
       61 argepspalv lgrsvpqaav pvrplalhla hkargpggpf ggeppppppp psplppllrd
      121 ppaedareev aagpaekrqp pllppkgnpw tkkppqhlsp dttgpppppl etleaefgsl
      181 kiikagklkt kksnkasdfs dmenwptpse lvntgfqsvl sqgnkkpqnr kekeekvekr
      241 snsdskenre tklngpgenv sedeaqssnq rkrankhkwv plhldvvrse sqerpgsrns
      301 srcqpeankp thnnrrndtr swkrdrekrd dqddvssvrs eggnirgsfr grgrgrgrgr
      361 grgrgnprln fdysygyqeh gertdqpfqt elntsmmyyy ddgtgvqvyp veeallkeyi
      421 krqieyyfsv enlerdfflr gkmdeqgflp isliagfqrv qalttnlnli lealkdstev
      481 eivdekmrkk iepekwpipg ppprsvpptd fsqlidcpef vpgqafcsht esapnsprig
      541 splspkknse tsilqamsrg lstslpdlds epwievkkrh qpapvklres vsvpegslnq
      601 lcsseepeqe eldflfdeei eqigrkntft dwsdndsdye iddqdlnkil ivtqtppyvk
      661 khpggdrtgt hmsrakitse lakvindgly yyeqdlwmee denkhtaikq evenfkklnl
      721 iskeqfenlt pelpfepnqe vpvapsqsrq ggvqgvlhip kkdltdelaq klfdvseits
      781 aamvhslpta vpesprihpt rtpktprtpr lqdpnktprf ypvvkepkai dvksprkrkt
      841 rhstnpplec hvgwvmdsrd rgpgtssvst snaspsegap lagsygctph sfpkfqhpsh
      901 ellkengftq qvyhkyrrrc lserkrlgig qsqemntlfr fwsfflrdhf nkkmyeefrq
      961 lawedakeny rygleclfrf ysyglekkfr reifqdfqee tkkdyesgql yglekfwayl
     1021 kysqsktqsi dpklqeylcs fkrledfrvd ppisdefgrk rhsstsgees nrhrlppnss
     1081 tkppnaakpt stselqvpin sprrnispes sdnsh
//
LOCUS       XP_054206899             561 aa            linear   PRI 20-MAR-2023
DEFINITION  pre-mRNA 3'-end-processing factor FIP1 isoform X4 [Homo sapiens].
ACCESSION   XP_054206899
VERSION     XP_054206899.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350924.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..561
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..561
                     /product="pre-mRNA 3'-end-processing factor FIP1 isoform
                     X4"
                     /calculated_mol_wt=62842
     CDS             1..561
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /coded_by="XM_054350924.1:199..1884"
                     /db_xref="GeneID:81608"
                     /db_xref="HGNC:HGNC:19124"
                     /db_xref="MIM:607686"
ORIGIN      
        1 msageverlv selsggtggd eeeewlyggp wdvhvhsdla kdldenever peeenasanp
       61 psgiedetae ngvpkpkvte teddsdsdsd ddeddvhvti gdiktgapqy gsygtapvnl
      121 niktggrvyg ttgtkvkgvd ldapgsingv pllevdldsf edkpwrkpga dlsdyfnygf
      181 nedtwkayce kqkrirmgle vipvtsttnk itaedctmev tpgaeiqdgr fnlfkvqqgr
      241 tgnseketal pstkaeftsp pslfktglpp srrlpgaidv igqtitisrv egrrranens
      301 niqvlsersa tevdnnfskp ppffppgapp thlppppflp ppptvstapp lipppgfppp
      361 pgapppslip tiesghssgy dsrsarafpy gnvafphlpg sapswpslvd tskqwdyyar
      421 rekdrdrerd rdrerdrdrd rerertrere rerdhsptps vfnrfvgdee ryryreyaer
      481 gyerhrasre keerhrerrh rekeetrhks srsnsrrrhe seegdshrrh khkkskrske
      541 gkeagsepap eqesteatpa e
//
LOCUS       XP_054207085             728 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase LNX isoform X1 [Homo sapiens].
ACCESSION   XP_054207085
VERSION     XP_054207085.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351110.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..728
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..728
                     /product="E3 ubiquitin-protein ligase LNX isoform X1"
                     /calculated_mol_wt=80498
     CDS             1..728
                     /gene="LNX1"
                     /gene_synonym="LNX; MPDZ; PDZRN2"
                     /coded_by="XM_054351110.1:527..2713"
                     /db_xref="GeneID:84708"
                     /db_xref="HGNC:HGNC:6657"
                     /db_xref="MIM:609732"
ORIGIN      
        1 mnqpesandp eplcavcgqa hsleenhfys ypeevdddli chiclqalld pldtpcghty
       61 ctlcltnflv ekdfcpmdrk plvlqhckks silvnkllnk llvtcpfreh ctqvlqrcdl
      121 ehhfqtsckg ashygltkdr krrsqdgcpd gcasltatap spevsaaati slmtdepgld
      181 npayvssaed gqpaispvds grsnrtrarp ferstirsrs fkkinralsv lrrtksgsav
      241 anhadqgren senttapevf prlyhlipdg eitsikinrv dpseslsirl vggsetplvh
      301 iiiqhiyrdg viardgrllp gdiilkvngm disnvphnya vrllrqpcqv lwltvmreqk
      361 frsrnngqap dayrprddsf hvilnksspe eqlgiklvrk vdepgvfifn vldggvayrh
      421 gqleendrvl ainghdlryg spesaahliq aserrvhlvv srqvrqrspd ifqeagwnsn
      481 gswspgpger sntpkplhpt itchekvvni qkdpgeslgm tvaggashre wdlpiyvisv
      541 epggvisrdg riktgdilln vdgveltevs rseavallkr tsssivlkal evkeyepqed
      601 csspaaldsn hnmappsdws pswvmwlelp rclynckdiv lrrntagslg fcivggyeey
      661 ngnkpffiks ivegtpaynd grircgdill avngrstsgm ihaclarllk elkgritlti
      721 vswpgtfl
//
LOCUS       XP_054212568             170 aa            linear   PRI 20-MAR-2023
DEFINITION  androgen-dependent TFPI-regulating protein isoform X3 [Homo
            sapiens].
ACCESSION   XP_054212568
VERSION     XP_054212568.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356593.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..170
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..170
                     /product="androgen-dependent TFPI-regulating protein
                     isoform X3"
                     /calculated_mol_wt=19586
     CDS             1..170
                     /gene="ADTRP"
                     /gene_synonym="AIG1L; C6orf105; dJ413H6.1"
                     /coded_by="XM_054356593.1:325..837"
                     /db_xref="GeneID:84830"
                     /db_xref="HGNC:HGNC:21214"
                     /db_xref="MIM:614348"
ORIGIN      
        1 mtktstciyh flvlswytfl nyyisqegkd evkpkilang arwkymtlln lllqtifygv
       61 tclddvlkrt kggkdikflt afrdllfttl afpvstfvfl afwilflynr dliypkvldt
      121 vipvwlnham htfifpitla evvlrphsyp skktgltlla aasiayisrr
//
LOCUS       XP_054213086            1239 aa            linear   PRI 20-MAR-2023
DEFINITION  cohesin subunit SA-3 isoform X3 [Homo sapiens].
ACCESSION   XP_054213086
VERSION     XP_054213086.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357111.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1239
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1239
                     /product="cohesin subunit SA-3 isoform X3"
                     /calculated_mol_wt=140342
     CDS             1..1239
                     /gene="STAG3"
                     /gene_synonym="SPGF61"
                     /coded_by="XM_054357111.1:153..3872"
                     /db_xref="GeneID:10734"
                     /db_xref="HGNC:HGNC:11356"
                     /db_xref="MIM:608489"
ORIGIN      
        1 mssplqravg dtkralsass sssaslpfdd rdsnhtsegn gdslladedt dfedslnrnv
       61 kkraakrppk ttpvakhpkk gsrvvhrhsr kqseppandl fnavkaaksd mqslvdewld
      121 sykqdqdagf lelvnffiqs cgckgivtpe mfkkmsnsei iqhlteqfne dsgdypliap
      181 gpswkkfqgs fcefvrtlvc qcqysllydg fpmddlisll tglsdsqvra frhtstlaam
      241 klmtslvkva lqlsvhqdnn qrqyeaernk gpgqraperl esllekrkel qehqeeiegm
      301 mnalfrgvfv hryrdvlpei raicieeigc wmqsystsfl tdsylkyigw tlhdkhrevr
      361 lkcvkalkgl ygnrdlttrl elftsrfkdr mvsmvmdrey dvaveavrll ililknmegv
      421 ltdadcesvy pvvyashrgl asaageflyw klfypeceir mmggreqrqs pgaqrtffql
      481 llsffvesel hdhaaylvds lwdcagarlk dwegltslll ekdqnlgdvq estlieilvs
      541 sarqaseghp pvgrvtgrkg ltskerktqa ddrvkltehl ipllpqllak fsadaekvtp
      601 llqllscfdl hiyctgrlek hlelflqqlq evvvkhaepa vleagahaly llcnpeftff
      661 sradfarsql vdlltdrfqq eleellqssf ldedevynla atlkrlsafy nthdltrwel
      721 yepccqllqk avdtgevphq vilpaltlvy fsilwtlthi sksdasqkql sslrdrmvaf
      781 celcqsclsd vdteiqeqaf vllsdlllif spqmivggrd flrplvffpe atlqselasf
      841 lmdhvfiqpg dlgsgdsqed hlqierlhqr rrllagfckl llygvlemda asdvfkhynk
      901 fyndygdiik etltrarqid rshcsrilll slkqlytell qehgpqglne lpafiemrdl
      961 arrfalsfgp qqlqnrdlvv mlhkegiqfs lselppagss nqppnlafle llsefsprlf
     1021 hqdkqlllsy lekclqhvsq apghpwgpvt tychslspve ntaetspqvl psskrrrveg
     1081 pakpnredvs ssqeeslqln sipptptlts tavksrqplw glkemeeedg seldfaqgsq
     1141 pvagtersrf lgpqyfqtph npsgpglgnq lmrlslmeed eeeeleiqde sneerqdtdm
     1201 qassysstse rgldlldste ldieiteslq llgqrtavc
//
LOCUS       XP_054213964            1350 aa            linear   PRI 20-MAR-2023
DEFINITION  homeodomain-interacting protein kinase 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054213964
VERSION     XP_054213964.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357989.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1350
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1350
                     /product="homeodomain-interacting protein kinase 2 isoform
                     X3"
                     /calculated_mol_wt=147711
     CDS             1..1350
                     /gene="HIPK2"
                     /gene_synonym="PRO0593"
                     /coded_by="XM_054357989.1:1039..5091"
                     /db_xref="GeneID:28996"
                     /db_xref="HGNC:HGNC:14402"
                     /db_xref="MIM:606868"
ORIGIN      
        1 mvltpsgssp cqflsrhfpe hsvwmtanks sealtrstds falvrdgres tslrpaaaal
       61 cterlfiwqa smhcanprlp cqvlalspgr yqakhaagte rvtasliylp qikqtltpal
      121 nlgwyftegq kgsisaegps vrfawdlwgt lhdswglqea tlenkcqvlk rlniesppdl
      181 avplpgmash vqvfsphtlq ssafcsvkkl kiepssnwdm tgygshskvy sqskniplsq
      241 patttvstsl pvpnpslpye qtivfpgstg hivvtsasst svtgqvlggp hnlmrrstvs
      301 lldtyqkcgl krkseeient ssvqiieehp pmiqnnasga tvatattsta tsknsgsnse
      361 gdyqlvqhev lcsmtntyev leflgrgtfg qvvkcwkrgt neivaikilk nhpsyarqgq
      421 ievsilarls tesaddynfv rayecfqhkn htclvfemle qnlydflkqn kfsplplkyi
      481 rpvlqqvata lmklkslgli hadlkpenim lvdpsrqpyr vkvidfgsas hvskavcsty
      541 lqsryyrape iilglpfcea idmwslgcvi aelflgwply pgaseydqir yisqtqglpa
      601 eyllsagtkt trffnrdtds pyplwrlktp ddheaetgik skearkyifn clddmaqvnm
      661 ttdlegsdml vekadrrefi dllkkmltid adkritpiet lnhpfvtmth lldfphsthv
      721 kscfqnmeic krrvnmydtv nqsktpfith vapststnlt mtfnnqlttv hnqpsaasma
      781 avaqrsmplq tgtaqicarp dpfqqalivc ppgfqglqas pskhagysvr menavpivtq
      841 apgaqplqiq pgllaqqawp sgtqqillpp awqqltgvat htsvqhatvi petmagtqql
      901 adwrnthahg shynpimqqp alltghvtlp aaqplnvgva hvmrqqptst tssrkskqhq
      961 ssvrnvstce vsssqaissp qrskrvkent pprcamvhss pacstsvtcg wgdvassttr
     1021 erqrqtivip dtpsptvsvi tissdtdeee eqkhaptstv skqrknvisc vtvhdspysd
     1081 sssntspysv qqraghnnan afdtkgslen hctgnprtii vpplktqase vlvecdslvp
     1141 vntshhsssy ksksssnvts tsghssgsss gaityrqqrp gphfqqqqpl nlsqaqqhit
     1201 tdrtgshrrq qayitptmaq apysfphnsp shgtvhphla aaaaaahlpt qphlytytap
     1261 aalgstgtva hlvasqgsar htvqhtaypa sivhqvpvsm gprvlpspti hpsqypaqfa
     1321 hqtyisaspa stvytgypls pakvnqypyi
//
LOCUS       XP_054214003             181 aa            linear   PRI 20-MAR-2023
DEFINITION  transformer-2 protein homolog alpha isoform X1 [Homo sapiens].
ACCESSION   XP_054214003
VERSION     XP_054214003.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358028.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..181
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..181
                     /product="transformer-2 protein homolog alpha isoform X1"
                     /calculated_mol_wt=20615
     CDS             1..181
                     /gene="TRA2A"
                     /gene_synonym="AWMS1; HSU53209"
                     /coded_by="XM_054358028.1:945..1490"
                     /db_xref="GeneID:29896"
                     /db_xref="HGNC:HGNC:16645"
                     /db_xref="MIM:602718"
ORIGIN      
        1 msnrrrhtgs ranpdpntcl gvfglslytt erdlrevfsr ygplsgvnvv ydqrtgrsrg
       61 fafvyferid dskeameran gmeldgrrir vdysitkrah tptpgiymgr pthsgggggg
      121 gggggggggg rrrdsyydrg ydrgydryed ydyryrrrsp spyysryrsr srsrsysprr
      181 y
//
LOCUS       XP_054215275            1580 aa            linear   PRI 20-MAR-2023
DEFINITION  maltase-glucoamylase isoform X3 [Homo sapiens].
ACCESSION   XP_054215275
VERSION     XP_054215275.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359300.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1580
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1580
                     /product="maltase-glucoamylase isoform X3"
                     /calculated_mol_wt=179642
     CDS             1..1580
                     /gene="MGAM"
                     /gene_synonym="MG; MGA"
                     /coded_by="XM_054359300.1:103..4845"
                     /db_xref="GeneID:8972"
                     /db_xref="HGNC:HGNC:7043"
                     /db_xref="MIM:154360"
ORIGIN      
        1 mgleedgsah gvlllnsnam dvtfqplpal tyrttggvld fyvflgptpe lvtqqyteli
       61 grpvmvpyws lgfqlcrygy qndseiasly demvaaqipy dvqysdidym erqldftlsp
      121 kfagfpalin rmkadgmrvi lildpaisgn etqpypaftr gveddvfiky pndgdivwgk
      181 vwpdfpdvvv ngsldwdsqv elyrayvafp dffrnstakw wkreieelyn npqnperslk
      241 fdgmwidmne pssfvngavs pgcrdaslnh ppymphlesr drglssktlc mesqqilpdg
      301 slvqhynvhn lygwsqtrpt yeavqevtgq rgvvitrstf pssgrwaghw lgdntaawdq
      361 lkksiigmme fslfgisytg adicgffqda eyemcvrwlq lgafypfsrn hntigtrrqd
      421 pvswdaafvn isrnvlqtry tllpylytlm qkahtegvtv vrpllhefvs dqvtwdidsq
      481 fllgpaflvs pvlernarnv tayfprarwy dyytgvdina rgewktlpap ldhinlhvrg
      541 gyilpwqepa lnthlsrknp lgliialden keakgelfwd dgqtkdtvak kvyllcefsv
      601 tqnhlevtis qstykdpnnl afneikilgm eepsnvtvkh ngvpsqtspt vtydsnlkva
      661 iitdinlflg eaytvewsik irdeekidcy pdengdsaen ctargciwea snssgvpfcy
      721 fvndlysvsd vqynshgata dislkssvha nafpstpvnp lrldvtyhkn emlqfkiydp
      781 nnnryevpvp lnipsvpsst pegqlydvli kknpfgieir rkstgtiiwd sqllgftfnd
      841 mfiristrlp skylygfget ehtsyrrdle whtwgmfsrd qppgykknsy gvhpyymgle
      901 edgsahgvll lnsnamdvtf qplpaltyrt tggvldfyvf lgptpelvtq qyteligrpv
      961 mvpywslgfq lcrygyqnds eisslydemv aaqipydvqy sdidymerql dftlspkfag
     1021 fpalinrmka dgmrvilild paisgnetqp ypaftrgved dvfikypndg divwgkvwpd
     1081 fpdvvvngsl dwdsqvelyr ayvafpdffr nstakwwkre ieelynnpqn perslkfdgm
     1141 widmnepssf vngavspgcr daslnhppym pylesrdrgl ssktlcmesq qilpdgspvq
     1201 hynvhnlygw sqtrptyeav qevtgqrgvv itrstfpssg rwaghwlgdn taawdqlkks
     1261 iigmmefslf gisytgadic gffqdaeyem cvrwmqlgaf ypfsrnhnti gtrrqdpvsw
     1321 dvafvnisrt vlqtrytllp ylytlmhkah tegvtvvrpl lhefvsdqvt wdidsqfllg
     1381 paflvspvle rnarnvtayf prarwydyyt gvdinargew ktlpapldhi nlhvrggyil
     1441 pwqepalnth lsrqkfmgfk ialddegtag gwlfwddgqs idtygkglyy lasfsasqnt
     1501 mqshiifnny itgtnplklg yieiwgvgsv pvtsvsisvs gmvitpsfnn dpttqvlsid
     1561 vtdrnislhn ftsltwistl
//
LOCUS       XP_054215726             210 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 68 isoform X2 [Homo sapiens].
ACCESSION   XP_054215726
VERSION     XP_054215726.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359751.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..210
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..210
                     /product="transmembrane protein 68 isoform X2"
                     /calculated_mol_wt=23878
     CDS             1..210
                     /gene="TMEM68"
                     /coded_by="XM_054359751.1:215..847"
                     /db_xref="GeneID:137695"
                     /db_xref="HGNC:HGNC:26510"
ORIGIN      
        1 mekipedgpa liifyhgaip idfyyfmaki fihkgrtcrv vadhfvfkip gfsllldvfc
       61 alhgprekcv eilrsghlla ispggvreal isdetynivw ghrrgfaqva idakvpiipm
      121 ftqniregfr slggtrlfrw lyekfrypfa pmyggfpvkl rtylgdpipy dpqitaeela
      181 ektknavqal idkhqripgn imsallerfh
//
LOCUS       XP_054215934             912 aa            linear   PRI 20-MAR-2023
DEFINITION  t-SNARE domain-containing protein 1 isoform X6 [Homo sapiens].
ACCESSION   XP_054215934
VERSION     XP_054215934.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359959.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..912
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..912
                     /product="t-SNARE domain-containing protein 1 isoform X6"
                     /calculated_mol_wt=97178
     CDS             1..912
                     /gene="TSNARE1"
                     /coded_by="XM_054359959.1:3619..6357"
                     /db_xref="GeneID:203062"
                     /db_xref="HGNC:HGNC:26437"
ORIGIN      
        1 mqngetgkrr pttrqlsvea agpaickkms ygsiargggl gsrgplggps rqgcqpleca
       61 rcwteygirh fpcpspeskl qnpcvgkdge gdlgpagtpi vprarkrgpg vapegsrmpe
      121 ptssptigpr kdsaagphgr magpsatrak krkpnfcpqe tevlvskvsk hhqllfgtgl
      181 lkaeptrryr vwsrilqavn algycrrdvv dlkhkwrdlr avvrrklgdl rkaahgpspg
      241 sgkpqalalt pveqvvaktf scqalpsegf sleppratqv dpcnlqelfq emsanifrin
      301 ssvtslersl qslgtpsdtq elrdslhtaq qetnktiaas assvkqmael lrsscpqerl
      361 qqerpqldrl ktqlsdaiqc ygvvqkkiae ksrallpmaq rgskqqspqa pfaeladdek
      421 vfngsdnmwq gqeqallpdi teedleairl reeailqmes nlldvnqiik dlasmvseqg
      481 eavgealpfc cwrppiedlt gervqqqqsh lpaelqprag rgspaagcra glhtpaagpp
      541 lphqdtqaql qppgdggaga egaaplpaav rgaaghtcpk aprvephpag seragllppr
      601 pggpqaqvag parccaqeag ggrprprppp htcgahggrd lfrprsprrg pdhgapakpr
      661 lqpaaatgsk gdagsegdag svlppaasvp pptapplllk tpcqellrrp phmvahpskq
      721 spagpspswe lleglwersp gsrtsslrat ewtegpsltg qagaglkrpq wqpwqnlerw
      781 gilscscsqr cmrlgpmgrv grtgwethvd panpvaglgq gawavglgrw awalglvvgl
      841 ggwawsvgll mgwgwrriwv rsglcrpgma gstpieatls pegqilaakg pmgrgrpglg
      901 vlhgkdrhvv wg
//
LOCUS       XP_054220409             153 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein FLJ76381 [Homo sapiens].
ACCESSION   XP_054220409
VERSION     XP_054220409.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364434.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..153
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..153
                     /product="uncharacterized protein FLJ76381"
                     /calculated_mol_wt=16767
     CDS             1..153
                     /gene="LOC128966771"
                     /coded_by="XM_054364434.1:1..462"
                     /db_xref="GeneID:128966771"
ORIGIN      
        1 mggfgsrfwq egvwdrdlek strleedame seplagtktr grgrrrwear hgwtlpahas
       61 qpsprtvvat atgaevsaca grsagtrvag pesqlshlyg wdkysnprps rraravarvh
      121 aleqapilcr alrwgltqfl rgtspvtqsv pfs
//
LOCUS       XP_054183670            1058 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin-like modifier-activating enzyme 1 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054183670
VERSION     XP_054183670.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327695.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1058
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1058
                     /product="ubiquitin-like modifier-activating enzyme 1
                     isoform X6"
                     /calculated_mol_wt=117718
     CDS             1..1058
                     /gene="UBA1"
                     /gene_synonym="A1S9; A1S9T; A1ST; AMCX1; CFAP124; GXP1;
                     POC20; SMAX2; UBA1A; UBE1; UBE1X; VEXAS"
                     /coded_by="XM_054327695.1:67..3243"
                     /db_xref="GeneID:7317"
                     /db_xref="HGNC:HGNC:12469"
                     /db_xref="MIM:314370"
ORIGIN      
        1 msssplskkr rvsgpdpkpg sncspaqsvl sevpsvptng makngseadi deglysrqly
       61 vlgheamkrl qtssvlvsgl rglgveiakn iilggvkavt lhdqgtaqwa dlssqfylre
      121 edigknraev sqprlaelns yvpvtaytgp lvedflsgfq vvvltntple dqlrvgefch
      181 nrgiklvvad trglfgqlfc dfgeemiltd sngeqplsam vsmvtkdnpg vvtcldearh
      241 gfesgdfvsf sevqgmveln gnqpmeikvl gpytfsicdt snfsdyirgg ivsqvkvpkk
      301 isfkslvasl aepdfvvtdf akfsrpaqlh igfqalhqfc aqhgrpprpr needaaelva
      361 laqavnaral pavqqnnlde dlirklayva agdlapinaf igglaaqevm kacsgkfmpi
      421 mqwlyfdale clpedkevlt edkclqrqnr ydgqvavfgs dlqeklgkqk yflvgagaig
      481 cellknfami glgcgeggei ivtdmdtiek snlnrqflfr pwdvtklksd taaaavrqmn
      541 phirvtshqn rvgpdteriy dddffqnldg vanaldnvda rmymdrrcvy yrkpllesgt
      601 lgtkgnvqvv ipfltesyss sqdppeksip ictlknfpna iehtlqward efeglfkqpa
      661 envnqyltdp kfvertlrla gtqplevlea vqrslvlqrp qtwadcvtwa chhwhtqysn
      721 nirqllhnfp pdqltssgap fwsgpkrcph pltfdvnnpl hldyvmaaan lfaqtygltg
      781 sqdraavatf lqsvqvpeft pksgvkihvs dqelqsanas vddsrleelk atlpspdklp
      841 gfkmypidfe kdddsnfhmd fivaasnlra enydipsadr hkskliagki ipaiatttaa
      901 vvglvclely kvvqghrqld sykngflnla lpffgfsepl aaprhqyynq ewtlwdrfev
      961 qglqpngeem tlkqfldyfk tehkleitml sqgvsmlysf fmpaaklker ldqpmteivs
     1021 rvskrklgrh vralvlelcc ndesgedvev pyvrytir
//
LOCUS       XP_054184147             746 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 6 isoform X5 [Homo sapiens].
ACCESSION   XP_054184147
VERSION     XP_054184147.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328172.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..746
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..746
                     /product="rho guanine nucleotide exchange factor 6 isoform
                     X5"
                     /calculated_mol_wt=83690
     CDS             1..746
                     /gene="ARHGEF6"
                     /gene_synonym="alpha-PIX; alphaPIX; Cool-2; COOL2; MRX46;
                     PIXA"
                     /coded_by="XM_054328172.1:301..2541"
                     /db_xref="GeneID:9459"
                     /db_xref="HGNC:HGNC:685"
                     /db_xref="MIM:300267"
ORIGIN      
        1 mkspaceagl ntnlyvlhee vsskreifdp ddlysgvnfs kvlstllavn katedqlser
       61 pcgrssslsa antsqtnpqg avsstvsglq rqsktvemte ngshqlivka rfnfkqtned
      121 elsvckgdii yvtrveeggw wegtlngrtg wfpsnyvrei kssdgvslll pglecngais
      181 ahhnlclpgs krplspkavk gfetapltkn yytvvlqnil dtekeyakel qsllvtylrp
      241 lqsnnnlstv evtsllgnfe evctfqqtlc qaleecskfp enqhkvggcl lslmphfksm
      301 ylaycanhps avnvltqhsd eleqfmenqg asspgililt tnlskpfmrl ekyvtllqel
      361 erhmedthpd hqdilkaiva fktlmgqcqd lrkrkqlelq ilsepiqawe gediknlgnv
      421 ifmsqvmvqy gaceekeery lmlfsnvlim lsasprmsgf iyqgkipiag tvvtrldeie
      481 gndctfeitg ntverivvhc nnnqdfqewl eqlnrlirgp ascsslskts ssscsahssf
      541 sstgqprgpl eppqiikpws lsclrpappl rpsaalgyke rmsyilkess kspktmkkfl
      601 hkrkterkps eeeyvirkst aaleedaqil kvieayctsa nfqqghgsst rkdsipqvll
      661 peeekliiee trsngqtime ekslvdtvya lkdevrelkq enkrmkqcle eelksrrdle
      721 klvrrllkqt decirgesss ktsilp
//
LOCUS       NP_922938                247 aa            linear   PRI 26-MAR-2023
DEFINITION  C-type lectin domain family 7 member A isoform a [Homo sapiens].
ACCESSION   NP_922938
VERSION     NP_922938.1
DBSOURCE    REFSEQ: accession NM_197947.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 247)
  AUTHORS   Tang C, Sun H, Kadoki M, Han W, Ye X, Makusheva Y, Deng J, Feng B,
            Qiu D, Tan Y, Wang X, Guo Z, Huang C, Peng S, Chen M, Adachi Y,
            Ohno N, Trombetta S and Iwakura Y.
  TITLE     Blocking Dectin-1 prevents colorectal tumorigenesis by suppressing
            prostaglandin E2 production in myeloid-derived suppressor cells and
            enhancing IL-22 binding protein expression
  JOURNAL   Nat Commun 14 (1), 1493 (2023)
   PUBMED   36932082
  REMARK    GeneRIF: Blocking Dectin-1 prevents colorectal tumorigenesis by
            suppressing prostaglandin E2 production in myeloid-derived
            suppressor cells and enhancing IL-22 binding protein expression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 247)
  AUTHORS   Hasan A, Roome T, Wahid M, Ansari SA, Akhtar H, Jilani SNA and
            Kiyani A.
  TITLE     Gene expression analysis of toll like receptor 2 and 4, Dectin-1,
            Osteopontin and inflammatory cytokines in human dental pulp ex-vivo
  JOURNAL   BMC Oral Health 22 (1), 563 (2022)
   PUBMED   36463168
  REMARK    GeneRIF: Gene expression analysis of toll like receptor 2 and 4,
            Dectin-1, Osteopontin and inflammatory cytokines in human dental
            pulp ex-vivo.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 247)
  AUTHORS   Drummond RA, Desai JV, Hsu AP, Oikonomou V, Vinh DC, Acklin JA,
            Abers MS, Walkiewicz MA, Anzick SL, Swamydas M, Vautier S,
            Natarajan M, Oler AJ, Yamanaka D, Mayer-Barber KD, Iwakura Y,
            Bianchi D, Driscoll B, Hauck K, Kline A, Viall NS, Zerbe CS, Ferre
            EM, Schmitt MM, DiMaggio T, Pittaluga S, Butman JA, Zelazny AM,
            Shea YR, Arias CA, Ashbaugh C, Mahmood M, Temesgen Z, Theofiles AG,
            Nigo M, Moudgal V, Bloch KC, Kelly SG, Whitworth MS, Rao G,
            Whitener CJ, Mafi N, Gea-Banacloche J, Kenyon LC, Miller WR,
            Boggian K, Gilbert A, Sincock M, Freeman AF, Bennett JE, Hasbun R,
            Mikelis CM, Kwon-Chung KJ, Belkaid Y, Brown GD, Lim JK, Kuhns DB,
            Holland SM and Lionakis MS.
  TITLE     Human Dectin-1 deficiency impairs macrophage-mediated defense
            against phaeohyphomycosis
  JOURNAL   J Clin Invest 132 (22), e159348 (2022)
   PUBMED   36377664
  REMARK    GeneRIF: Human Dectin-1 deficiency impairs macrophage-mediated
            defense against phaeohyphomycosis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 247)
  AUTHORS   Al Madhoun A, Kochumon S, Al-Rashed F, Sindhu S, Thomas R, Miranda
            L, Al-Mulla F and Ahmad R.
  TITLE     Dectin-1 as a Potential Inflammatory Biomarker for Metabolic
            Inflammation in Adipose Tissue of Individuals with Obesity
  JOURNAL   Cells 11 (18), 2879 (2022)
   PUBMED   36139454
  REMARK    GeneRIF: Dectin-1 as a Potential Inflammatory Biomarker for
            Metabolic Inflammation in Adipose Tissue of Individuals with
            Obesity.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 247)
  AUTHORS   Shiao SL, Kershaw KM, Limon JJ, You S, Yoon J, Ko EY, Guarnerio J,
            Potdar AA, McGovern DPB, Bose S, Dar TB, Noe P, Lee J, Kubota Y,
            Maymi VI, Davis MJ, Henson RM, Choi RY, Yang W, Tang J, Gargus M,
            Prince AD, Zumsteg ZS and Underhill DM.
  TITLE     Commensal bacteria and fungi differentially regulate tumor
            responses to radiation therapy
  JOURNAL   Cancer Cell 39 (9), 1202-1213 (2021)
   PUBMED   34329585
  REMARK    GeneRIF: Commensal bacteria and fungi differentially regulate tumor
            responses to radiation therapy.
REFERENCE   6  (residues 1 to 247)
  AUTHORS   Yokota K, Takashima A, Bergstresser PR and Ariizumi K.
  TITLE     Identification of a human homologue of the dendritic
            cell-associated C-type lectin-1, dectin-1
  JOURNAL   Gene 272 (1-2), 51-60 (2001)
   PUBMED   11470510
REFERENCE   7  (residues 1 to 247)
  AUTHORS   Hermanz-Falcon P, Arce I, Roda-Navarro P and Fernandez-Ruiz E.
  TITLE     Cloning of human DECTIN-1, a novel C-type lectin-like receptor gene
            expressed on dendritic cells
  JOURNAL   Immunogenetics 53 (4), 288-295 (2001)
   PUBMED   11491532
  REMARK    Erratum:[Immunogenetics 2001 Aug;53(6):518]
REFERENCE   8  (residues 1 to 247)
  AUTHORS   Ariizumi K, Shen GL, Shikano S, Xu S, Ritter R 3rd, Kumamoto T,
            Edelbaum D, Morita A, Bergstresser PR and Takashima A.
  TITLE     Identification of a novel, dendritic cell-associated molecule,
            dectin-1, by subtractive cDNA cloning
  JOURNAL   J Biol Chem 275 (26), 20157-20167 (2000)
   PUBMED   10779524
REFERENCE   9  (residues 1 to 247)
  AUTHORS   Drickamer K.
  TITLE     C-type lectin-like domains
  JOURNAL   Curr Opin Struct Biol 9 (5), 585-590 (1999)
   PUBMED   10508765
  REMARK    Review article
REFERENCE   10 (residues 1 to 247)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA193873.1, AF400595.1,
            AY359002.1, AY009090.2 and CR749536.1.
            
            Summary: This gene encodes a member of the C-type lectin/C-type
            lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein
            is a small type II membrane receptor with an extracellular C-type
            lectin-like domain fold and a cytoplasmic domain with an
            immunoreceptor tyrosine-based activation motif. It functions as a
            pattern-recognition receptor that recognizes a variety of
            beta-1,3-linked and beta-1,6-linked glucans from fungi and plants,
            and in this way plays a role in innate immune response. Alternate
            transcriptional splice variants, encoding different isoforms, have
            been characterized. This gene is closely linked to other CTL/CTLD
            superfamily members on chromosome 12p13 in the natural killer gene
            complex region. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). Variant 1 has been
            alternatively referred to as variant 2 and isoform a has been
            alternatively referred to as alpha in the literature.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.951120.1,
                                           SRR14038194.3457642.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304084.13/ ENSP00000302569.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..247
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.2"
     Protein         1..247
                     /product="C-type lectin domain family 7 member A isoform
                     a"
                     /note="beta-glucan receptor; C-type (calcium dependent,
                     carbohydrate-recognition domain) lectin, superfamily
                     member 12; lectin-like receptor 1; dectin-1; dendritic
                     cell-associated C-type lectin-1; DC-associated C-type
                     lectin 1; C-type lectin superfamily member 12; C-type
                     lectin domain family 7 member A"
                     /calculated_mol_wt=27496
     Region          15..18
                     /region_name="ITAM-like"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXN2.1)"
     Region          40..>67
                     /region_name="Ly49"
                     /note="Ly49-like protein, N-terminal region; pfam08391"
                     /db_xref="CDD:429969"
     Site            45..65
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXN2.1)"
     Site            91
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9BXN2.1)"
     Region          120..243
                     /region_name="CLECT_NK_receptors_like"
                     /note="C-type lectin-like domain (CTLD) of the type found
                     in natural killer cell receptors (NKRs); cd03593"
                     /db_xref="CDD:153063"
     Site            order(178,205,227,229..230)
                     /site_type="other"
                     /note="ligand binding surface [chemical binding]"
                     /db_xref="CDD:153063"
     CDS             1..247
                     /gene="CLEC7A"
                     /gene_synonym="BGR; CANDF4; CD369; CLECSF12; DECTIN1;
                     SCARE2"
                     /coded_by="NM_197947.3:118..861"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS41753.1"
                     /db_xref="GeneID:64581"
                     /db_xref="HGNC:HGNC:14558"
                     /db_xref="MIM:606264"
ORIGIN      
        1 meyhpdlenl dedgytqlhf dsqsntriav vsekgscaas ppwrliavil gilclvilvi
       61 avvlgtmaiw rsnsgsntle ngyflsrnke nhsqptqssl edsvtptkav kttgvlsspc
      121 ppnwiiyeks cylfsmslns wdgskrqcwq lgsnllkids snelgfivkq vssqpdnsfw
      181 iglsrpqtev pwlwedgstf ssnlfqirtt atqenpspnc vwihvsviyd qlcsvpsysi
      241 cekkfsm
//
LOCUS       NP_001340780             170 aa            linear   PRI 29-MAR-2023
DEFINITION  transmembrane protein 164 isoform c [Homo sapiens].
ACCESSION   NP_001340780 XP_011529353
VERSION     NP_001340780.1
DBSOURCE    REFSEQ: accession NM_001353851.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 170)
  AUTHORS   Reed A, Ware T, Li H, Fernando Bazan J and Cravatt BF.
  TITLE     TMEM164 is an acyltransferase that forms ferroptotic C20:4 ether
            phospholipids
  JOURNAL   Nat Chem Biol 19 (3), 378-388 (2023)
   PUBMED   36782012
REFERENCE   2  (residues 1 to 170)
  AUTHORS   Liu J, Liu Y, Wang Y, Li C, Xie Y, Klionsky DJ, Kang R and Tang D.
  TITLE     TMEM164 is a new determinant of autophagy-dependent ferroptosis
  JOURNAL   Autophagy 19 (3), 945-956 (2023)
   PUBMED   35947500
REFERENCE   3  (residues 1 to 170)
  AUTHORS   Poreau B, Ramond F, Harbuz R, Satre V, Barro C, Vettier C, Adouard
            V, Thevenon J, Jouk PS, Coutton C, Touraine R and Dieterich K.
  TITLE     Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two
            case reports confirming a recognizable phenotype with short
            stature, midface hypoplasia, intellectual delay, and elliptocytosis
  JOURNAL   Am J Med Genet A 179 (4), 650-654 (2019)
   PUBMED   30737907
  REMARK    GeneRIF: Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1
            genes are associated with Alport syndrome, intellectual disability,
            midface hypoplasia, and elliptocytosis.
REFERENCE   4  (residues 1 to 170)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D,
            Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL,
            Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles
            ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman
            R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P,
            Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E,
            Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA,
            Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A,
            Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM,
            Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N,
            Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford
            EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J,
            Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E,
            Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke
            G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V,
            Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis
            C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H,
            Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ,
            Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL,
            Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert
            J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock
            R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD,
            Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M,
            Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob
            L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S,
            Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A,
            Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L,
            Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD,
            Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall
            J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G,
            Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N,
            Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R,
            Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM,
            Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S,
            Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C,
            Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC,
            Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor
            PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K,
            Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana
            D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A,
            Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G,
            Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL,
            Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D,
            Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ,
            Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M,
            Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T,
            Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL360224.14, AL359079.15 and BU681952.1.
            On Jul 26, 2017 this sequence version replaced XP_011529353.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.246324.1,
                                           SRR14038197.492081.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..170
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     Protein         1..170
                     /product="transmembrane protein 164 isoform c"
                     /note="RP13-360B22.2"
                     /calculated_mol_wt=19385
     Region          <1..146
                     /region_name="TMEM164"
                     /note="TMEM164 family; pfam14808"
                     /db_xref="CDD:434229"
     CDS             1..170
                     /gene="TMEM164"
                     /gene_synonym="bB360B22.3"
                     /coded_by="NM_001353851.2:384..896"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="GeneID:84187"
                     /db_xref="HGNC:HGNC:26217"
ORIGIN      
        1 mmhifllacp pcrgaivvfk lqmhmlngal lallfpvvnt rllpfeleiy yiqhvmlyvv
       61 piyllwkgga ytpeplssfr wallstglmf fyhfsvlqil glvtevnlnn mlcpaisdpf
      121 ygpwyriwas ghqtlmtmth gklvilfsym agplckylld llrlpakkid
//
LOCUS       NP_001356602             154 aa            linear   PRI 03-APR-2023
DEFINITION  ribosomal protein S6 kinase beta-1 isoform j [Homo sapiens].
ACCESSION   NP_001356602 XP_011523405
VERSION     NP_001356602.1
DBSOURCE    REFSEQ: accession NM_001369673.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 154)
  AUTHORS   Jimeno R, Mouron S, Salgado R, Loi S, Perez-Mies B, Sanchez-Bayona
            R, Manso L, Martinez M, Garrido-Garcia A, Serrano-Pardo R, Colomer
            R and Quintela-Fandino M.
  TITLE     Tumor P70S6K hyperactivation is inversely associated with
            tumor-infiltrating lymphocytes in triple-negative breast cancer
  JOURNAL   Clin Transl Oncol 25 (4), 1124-1131 (2023)
   PUBMED   36508123
  REMARK    GeneRIF: Tumor P70S6K hyperactivation is inversely associated with
            tumor-infiltrating lymphocytes in triple-negative breast cancer.
REFERENCE   2  (residues 1 to 154)
  AUTHORS   Youssef SS, El-Araby RE, Abbas EAE, Hassany M and Elbaz T.
  TITLE     Prognostic and survival impact of BCL9 and RPS6KB1 copy number
            variation detected from circulating free DNA in hepatocellular
            carcinoma
  JOURNAL   Expert Rev Mol Diagn 23 (3), 267-278 (2023)
   PUBMED   36803362
  REMARK    GeneRIF: Prognostic and survival impact of BCL9 and RPS6KB1 copy
            number variation detected from circulating free DNA in
            hepatocellular carcinoma.
REFERENCE   3  (residues 1 to 154)
  AUTHORS   Ben-Hur V, Denichenko P, Siegfried Z, Maimon A, Krainer A, Davidson
            B and Karni R.
  TITLE     S6K1 alternative splicing modulates its oncogenic activity and
            regulates mTORC1
  JOURNAL   Cell Rep 3 (1), 103-115 (2013)
   PUBMED   23273915
  REMARK    GeneRIF: alternative splicing of S6K1 acts as a molecular switch in
            breast cancer cells, elevating oncogenic isoforms that activate
            mTORC1.
REFERENCE   4  (residues 1 to 154)
  AUTHORS   Rosner M and Hengstschlager M.
  TITLE     Nucleocytoplasmic localization of p70 S6K1, but not of its isoforms
            p85 and p31, is regulated by TSC2/mTOR
  JOURNAL   Oncogene 30 (44), 4509-4522 (2011)
   PUBMED   21602892
REFERENCE   5  (residues 1 to 154)
  AUTHORS   Fenton TR and Gout IT.
  TITLE     Functions and regulation of the 70kDa ribosomal S6 kinases
  JOURNAL   Int J Biochem Cell Biol 43 (1), 47-59 (2011)
   PUBMED   20932932
  REMARK    GeneRIF: Dysregulation of S6 kinases contributes to the
            pathogenesis of human diseases.
            Review article
REFERENCE   6  (residues 1 to 154)
  AUTHORS   Karni R, de Stanchina E, Lowe SW, Sinha R, Mu D and Krainer AR.
  TITLE     The gene encoding the splicing factor SF2/ASF is a proto-oncogene
  JOURNAL   Nat Struct Mol Biol 14 (3), 185-193 (2007)
   PUBMED   17310252
REFERENCE   7  (residues 1 to 154)
  AUTHORS   Couch FJ, Wang XY, Wu GJ, Qian J, Jenkins RB and James CD.
  TITLE     Localization of PS6K to chromosomal region 17q23 and determination
            of its amplification in breast cancer
  JOURNAL   Cancer Res 59 (7), 1408-1411 (1999)
   PUBMED   10197603
REFERENCE   8  (residues 1 to 154)
  AUTHORS   Moser BA, Dennis PB, Pullen N, Pearson RB, Williamson NA,
            Wettenhall RE, Kozma SC and Thomas G.
  TITLE     Dual requirement for a newly identified phosphorylation site in
            p70s6k
  JOURNAL   Mol Cell Biol 17 (9), 5648-5655 (1997)
   PUBMED   9271440
REFERENCE   9  (residues 1 to 154)
  AUTHORS   Proud CG.
  TITLE     p70 S6 kinase: an enigma with variations
  JOURNAL   Trends Biochem Sci 21 (5), 181-185 (1996)
   PUBMED   8871403
  REMARK    Review article
REFERENCE   10 (residues 1 to 154)
  AUTHORS   Grove JR, Banerjee P, Balasubramanyam A, Coffer PJ, Price DJ,
            Avruch J and Woodgett JR.
  TITLE     Cloning and expression of two human p70 S6 kinase polypeptides
            differing only at their amino termini
  JOURNAL   Mol Cell Biol 11 (11), 5541-5550 (1991)
   PUBMED   1922062
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004686.2.
            On Apr 15, 2019 this sequence version replaced XP_011523405.1.
            
            Summary: This gene encodes a member of the ribosomal S6 kinase
            family of serine/threonine kinases. The encoded protein responds to
            mTOR (mammalian target of rapamycin) signaling to promote protein
            synthesis, cell growth, and cell proliferation. Activity of this
            gene has been associated with human cancer. Alternatively spliced
            transcript variants have been observed. The use of alternative
            translation start sites results in isoforms with longer or shorter
            N-termini which may differ in their subcellular localizations.
            There are two pseudogenes for this gene on chromosome 17. [provided
            by RefSeq, Jan 2013].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.103683.1,
                                           SRR14038196.2622532.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            NMD candidate :: PMID: 23273915
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..154
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.1"
     Protein         1..154
                     /product="ribosomal protein S6 kinase beta-1 isoform j"
                     /EC_number="2.7.11.1"
                     /note="serine/threonine kinase 14 alpha; ribosomal protein
                     S6 kinase beta-1; ribosomal protein S6 kinase I;
                     serine/threonine-protein kinase 14A; ribosomal protein S6
                     kinase, 70kDa, polypeptide 1"
                     /calculated_mol_wt=17297
     Region          41..>142
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..154
                     /gene="RPS6KB1"
                     /gene_synonym="p70 S6KA; p70(S6K)-alpha; p70-alpha;
                     p70-S6K; PS6K; S6K; S6K-beta-1; S6K1; STK14A"
                     /coded_by="NM_001369673.1:353..817"
                     /note="isoform j is encoded by transcript variant 9"
                     /db_xref="GeneID:6198"
                     /db_xref="HGNC:HGNC:10436"
                     /db_xref="MIM:608938"
ORIGIN      
        1 mdhggvgpye lgmehcekfe isetsvnrgp ekirpecfel lrvlgkggyg kvfqvrkvtg
       61 antgkifamk vlkkamivrn akdtahtkae rnileevkhp fivdliyafq tggklylile
      121 ylsggelfmq leregifmed tawlewnalh tscs
//
LOCUS       NP_058434                357 aa            linear   PRI 03-APR-2023
DEFINITION  N-glycosylase/DNA lyase isoform 2b [Homo sapiens].
ACCESSION   NP_058434
VERSION     NP_058434.1
DBSOURCE    REFSEQ: accession NM_016826.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 357)
  AUTHORS   Pilo J, Garcia-Flores LA, Clemente-Postigo M, Arranz-Salas I,
            Alcaide J, Ramos-Fernandez M, Lozano J, Boughanem H, Kompella P and
            Macias-Gonzalez M.
  TITLE     8-Oxoguanine DNA Glycosylase 1 Upregulation as a Risk Factor for
            Obesity and Colorectal Cancer
  JOURNAL   Int J Mol Sci 24 (6), 5488 (2023)
   PUBMED   36982562
  REMARK    GeneRIF: 8-Oxoguanine DNA Glycosylase 1 Upregulation as a Risk
            Factor for Obesity and Colorectal Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 357)
  AUTHORS   Ryan KM and McLoughlin DM.
  TITLE     PARP1 and OGG1 in Medicated Patients With Depression and the
            Response to ECT
  JOURNAL   Int J Neuropsychopharmacol 26 (2), 107-115 (2023)
   PUBMED   36472850
  REMARK    GeneRIF: PARP1 and OGG1 in Medicated Patients With Depression and
            the Response to ECT.
REFERENCE   3  (residues 1 to 357)
  AUTHORS   Shang Q, Pan C, Zhang X, Yang T, Hu T, Zheng L, Cao S, Feng C, Hu
            X, Chai X, Wang J and Fang Q.
  TITLE     Nuclear factor Nrf2 promotes glycosidase OGG1 expression by
            activating the AKT pathway to enhance leukemia cell resistance to
            cytarabine
  JOURNAL   J Biol Chem 299 (1), 102798 (2023)
   PUBMED   36528059
  REMARK    GeneRIF: Nuclear factor Nrf2 promotes glycosidase OGG1 expression
            by activating the AKT pathway to enhance leukemia cell resistance
            to cytarabine.
REFERENCE   4  (residues 1 to 357)
  AUTHORS   Zhao F, Zhu J, Shi L and Wu X.
  TITLE     OGG1 in the Kidney: Beyond Base Excision Repair
  JOURNAL   Oxid Med Cell Longev 2022, 5774641 (2022)
   PUBMED   36620083
  REMARK    GeneRIF: OGG1 in the Kidney: Beyond Base Excision Repair.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 357)
  AUTHORS   Surniyantoro HNE, Yusuf D, Rahardjo T, Rahajeng N, Kisnanto T,
            Nurhayati S, Lusiyanti Y, Syaifudin M and Hande MP.
  TITLE     Assessment of hOGG1 Genetic Polymorphism (rs1052133) and DNA Damage
            in Radiation-Exposed Workers
  JOURNAL   Asian Pac J Cancer Prev 23 (12), 4005-4012 (2022)
   PUBMED   36579980
  REMARK    GeneRIF: Assessment of hOGG1 Genetic Polymorphism (rs1052133) and
            DNA Damage in Radiation-Exposed Workers.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 357)
  AUTHORS   Rosenquist TA, Zharkov DO and Grollman AP.
  TITLE     Cloning and characterization of a mammalian 8-oxoguanine DNA
            glycosylase
  JOURNAL   Proc Natl Acad Sci U S A 94 (14), 7429-7434 (1997)
   PUBMED   9207108
REFERENCE   7  (residues 1 to 357)
  AUTHORS   Arai K, Morishita K, Shinmura K, Kohno T, Kim SR, Nohmi T, Taniwaki
            M, Ohwada S and Yokota J.
  TITLE     Cloning of a human homolog of the yeast OGG1 gene that is involved
            in the repair of oxidative DNA damage
  JOURNAL   Oncogene 14 (23), 2857-2861 (1997)
   PUBMED   9190902
REFERENCE   8  (residues 1 to 357)
  AUTHORS   Lu R, Nash HM and Verdine GL.
  TITLE     A mammalian DNA repair enzyme that excises oxidatively damaged
            guanines maps to a locus frequently lost in lung cancer
  JOURNAL   Curr Biol 7 (6), 397-407 (1997)
   PUBMED   9197244
REFERENCE   9  (residues 1 to 357)
  AUTHORS   Aburatani H, Hippo Y, Ishida T, Takashima R, Matsuba C, Kodama T,
            Takao M, Yasui A, Yamamoto K and Asano M.
  TITLE     Cloning and characterization of mammalian 8-hydroxyguanine-specific
            DNA glycosylase/apurinic, apyrimidinic lyase, a functional mutM
            homologue
  JOURNAL   Cancer Res 57 (11), 2151-2156 (1997)
   PUBMED   9187114
REFERENCE   10 (residues 1 to 357)
  AUTHORS   Chung U, Igarashi T, Nishishita T, Iwanari H, Iwamatsu A, Suwa A,
            Mimori T, Hata K, Ebisu S, Ogata E, Fujita T and Okazaki T.
  TITLE     The interaction between Ku antigen and REF1 protein mediates
            negative gene regulation by extracellular calcium
  JOURNAL   J Biol Chem 271 (15), 8593-8598 (1996)
   PUBMED   8621488
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM847736.1, U88527.1,
            AB019528.1 and AW614399.1.
            
            Summary: This gene encodes the enzyme responsible for the excision
            of 8-oxoguanine, a mutagenic base byproduct which occurs as a
            result of exposure to reactive oxygen. The action of this enzyme
            includes lyase activity for chain cleavage. Alternative splicing of
            the C-terminal region of this gene classifies splice variants into
            two major groups, type 1 and type 2, depending on the last exon of
            the sequence. Type 1 alternative splice variants end with exon 7
            and type 2 end with exon 8. All variants share the N-terminal
            region in common, which contains a mitochondrial targeting signal
            that is essential for mitochondrial localization. Many alternative
            splice variants for this gene have been described, but the
            full-length nature for every variant has not been determined.
            [provided by RefSeq, Aug 2008].
            
            Transcript Variant: Transcript variant 2b contains an alternate
            exon 8 and skips exons 5 and 6, as compared to the predominant
            transcript variant 1a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1928869.1,
                                           SRR14038195.705701.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..357
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     Protein         1..357
                     /product="N-glycosylase/DNA lyase isoform 2b"
                     /EC_number="4.2.99.18"
                     /note="8-hydroxyguanine DNA glycosylase; DNA-apurinic or
                     apyrimidinic site lyase; AP lyase; N-glycosylase/DNA
                     lyase; OGG1 type 1f"
                     /calculated_mol_wt=39598
     Region          11..>249
                     /region_name="ogg"
                     /note="8-oxoguanine DNA-glycosylase (ogg); TIGR00588"
                     /db_xref="CDD:211589"
     CDS             1..357
                     /gene="OGG1"
                     /gene_synonym="HMMH; HOGG1; MUTM; OGH1"
                     /coded_by="NM_016826.3:336..1409"
                     /note="isoform 2b is encoded by transcript variant 2b"
                     /db_xref="CCDS:CCDS2577.1"
                     /db_xref="GeneID:4968"
                     /db_xref="HGNC:HGNC:8125"
                     /db_xref="MIM:601982"
ORIGIN      
        1 mparallprr mghrtlastp alwasipcpr selrldlvlp sgqsfrwreq spahwsgvla
       61 dqvwtltqte eqlhctvyrg dksqasrptp deleavrkyf qldvtlaqly hhwgsvdshf
      121 qevaqkfqgv rllrqdpiec lfsficssnn niaritgmve rlcqafgprl iqlddvtyhg
      181 fpslqalagp eveahlrklg lgyraryvsa saraileeqg glawlqqlre ssyeeahkal
      241 cilpgvgtkg llgnafdghq llrplifcqd hlregppigr gdsqgeelep qlpsslssip
      301 ygfcdhcwtk dvddpplvth pspgsrdghm tqawpvkvvs platvighvm qasllal
//
LOCUS       NP_001403492             212 aa            linear   PRI 10-APR-2023
DEFINITION  endothelin-1 isoform 1 preproprotein [Homo sapiens].
ACCESSION   NP_001403492 XP_016865820
VERSION     NP_001403492.1
DBSOURCE    REFSEQ: accession NM_001416563.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 212)
  AUTHORS   Zhang XH, Song YC, Qiu F, Wang ZC, Li N and Zhao FB.
  TITLE     Hypoxic glioma cell-secreted exosomal circ101491 promotes the
            progression of glioma by regulating miR-125b-5p/EDN1
  JOURNAL   Brain Res Bull 195, 55-65 (2023)
   PUBMED   36796652
  REMARK    GeneRIF: Hypoxic glioma cell-secreted exosomal circ101491 promotes
            the progression of glioma by regulating miR-125b-5p/EDN1.
REFERENCE   2  (residues 1 to 212)
  AUTHORS   Almeida INF, Taniguchi E, Tito CVA, Dias DT, Ushida M, Dorairaj S,
            Ritch R, Teixeira SH, Paranhos A Jr, Gracitelli CPB, Kayser C and
            Prata TS.
  TITLE     Vascular parameters and endothelin-1 measurements in glaucoma
            patients with low- and high-tension optic disc hemorrhages
  JOURNAL   Sci Rep 13 (1), 5023 (2023)
   PUBMED   36977700
  REMARK    GeneRIF: Vascular parameters and endothelin-1 measurements in
            glaucoma patients with low- and high-tension optic disc
            hemorrhages.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 212)
  AUTHORS   Duangrat R, Parichatikanond W, Likitnukul S and Mangmool S.
  TITLE     Endothelin-1 Induces Cell Proliferation and Myofibroblast
            Differentiation through the ETAR/Galphaq/ERK Signaling Pathway in
            Human Cardiac Fibroblasts
  JOURNAL   Int J Mol Sci 24 (5), 4475 (2023)
   PUBMED   36901906
  REMARK    GeneRIF: Endothelin-1 Induces Cell Proliferation and Myofibroblast
            Differentiation through the ETAR/Galphaq/ERK Signaling Pathway in
            Human Cardiac Fibroblasts.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 212)
  AUTHORS   Choreziak-Michalak A, Gotz-Wieckowska A, Chmielarz-Czarnocinska A,
            Seremak-Mrozikiewicz A and Szpecht D.
  TITLE     Potential role of eNOS and EDN-1 gene polymorphisms in the
            development and progression of retinopathy of prematurity
  JOURNAL   BMC Ophthalmol 23 (1), 78 (2023)
   PUBMED   36829141
  REMARK    GeneRIF: Potential role of eNOS and EDN-1 gene polymorphisms in the
            development and progression of retinopathy of prematurity.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 212)
  AUTHORS   Sardu C, Santulli G, Savarese G, Trotta MC, Sacra C, Santamaria M,
            Volpicelli M, Ruocco A, Mauro C, Signoriello G, Marfella L, D'Amico
            M, Marfella R and Paolisso G.
  TITLE     Endothelial Dysfunction Drives CRTd Outcome at 1-Year Follow-Up: A
            Novel Role as Biomarker for miR-130a-5p
  JOURNAL   Int J Mol Sci 24 (2), 1510 (2023)
   PUBMED   36675028
  REMARK    GeneRIF: Endothelial Dysfunction Drives CRTd Outcome at 1-Year
            Follow-Up: A Novel Role as Biomarker for miR-130a-5p.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 212)
  AUTHORS   Rosano L, Spinella F and Bagnato A.
  TITLE     Endothelin 1 in cancer: biological implications and therapeutic
            opportunities
  JOURNAL   Nat Rev Cancer 13 (9), 637-651 (2013)
   PUBMED   23884378
  REMARK    Review article
REFERENCE   7  (residues 1 to 212)
  AUTHORS   Imokawa G, Yada Y and Miyagishi M.
  TITLE     Endothelins secreted from human keratinocytes are intrinsic
            mitogens for human melanocytes
  JOURNAL   J Biol Chem 267 (34), 24675-24680 (1992)
   PUBMED   1280264
REFERENCE   8  (residues 1 to 212)
  AUTHORS   Donlan ML, Brown FK and Jeffs PW.
  TITLE     Solution conformation of human big endothelin-1
  JOURNAL   J Biomol NMR 2 (5), 407-420 (1992)
   PUBMED   1422154
REFERENCE   9  (residues 1 to 212)
  AUTHORS   Wolff M, Day J, Greenwood A, Larson S and McPherson A.
  TITLE     Crystallization and preliminary X-ray analysis of human endothelin
  JOURNAL   Acta Crystallogr B 48 (Pt 2), 239-240 (1992)
   PUBMED   1515112
REFERENCE   10 (residues 1 to 212)
  AUTHORS   Sakamoto A, Yanagisawa M, Sakurai T, Takuwa Y, Yanagisawa H and
            Masaki T.
  TITLE     Cloning and functional expression of human cDNA for the ETB
            endothelin receptor
  JOURNAL   Biochem Biophys Res Commun 178 (2), 656-663 (1991)
   PUBMED   1713452
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z98050.1.
            On Feb 9, 2023 this sequence version replaced XP_016865820.1.
            
            Summary: This gene encodes a preproprotein that is proteolytically
            processed to generate a secreted peptide that belongs to the
            endothelin/sarafotoxin family. This peptide is a potent
            vasoconstrictor and its cognate receptors are therapeutic targets
            in the treatment of pulmonary arterial hypertension. Aberrant
            expression of this gene may promote tumorigenesis. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Oct 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1176205.1,
                                           SRR14038194.2612832.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..212
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.1"
     Protein         1..212
                     /product="endothelin-1 isoform 1 preproprotein"
                     /note="preproendothelin-1"
                     /calculated_mol_wt=22479
     sig_peptide     1..17
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1964
     Region          49..77
                     /region_name="Endothelin"
                     /note="Endothelin family; pfam00322"
                     /db_xref="CDD:425606"
     mat_peptide     53..90
                     /product="Big endothelin-1.
                     /evidence=ECO:0000269|PubMed:10438732. /id=PRO_0000008059"
                     /note="propagated from UniProtKB/Swiss-Prot (P05305.1)"
                     /calculated_mol_wt=4287
     mat_peptide     53..73
                     /product="Endothelin-1.
                     /evidence=ECO:0000269|PubMed:10438732. /id=PRO_0000008060"
                     /note="propagated from UniProtKB/Swiss-Prot (P05305.1)"
                     /calculated_mol_wt=2496
     Site            73..74
                     /site_type="cleavage"
                     /note="Cleavage, by KEL.
                     /evidence=ECO:0000269|PubMed:10438732; propagated from
                     UniProtKB/Swiss-Prot (P05305.1)"
     Region          108..129
                     /region_name="END"
                     /note="Endothelin; smart00272"
                     /db_xref="CDD:197618"
     Region          109..123
                     /region_name="Endothelin-like"
                     /note="propagated from UniProtKB/Swiss-Prot (P05305.1)"
     Region          168..212
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P05305.1)"
     CDS             1..212
                     /gene="EDN1"
                     /gene_synonym="ARCND3; ET1; HDLCQ7; PPET1; QME"
                     /coded_by="NM_001416563.1:112..750"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 3"
                     /db_xref="GeneID:1906"
                     /db_xref="HGNC:HGNC:3176"
                     /db_xref="MIM:131240"
ORIGIN      
        1 mdyllmifsl lfvacqgape tavlgaelsa vgenggekpt psppwrlrrs krcscsslmd
       61 kecvyfchld iiwvntpehv vpyglgsprs kralenllpt katdrenrcq casqkdkkcw
      121 nfcqagkelr aedimekdwn nhkkgkdcsk lgkkciyqql vrgrkirrss eehlrqtrse
      181 tmrnsvkssf hdpklkgkps reryvthnra hw
//
LOCUS       NP_001350804             583 aa            linear   PRI 10-APR-2023
DEFINITION  spastin isoform 4 [Homo sapiens].
ACCESSION   NP_001350804 XP_016860266
VERSION     NP_001350804.1
DBSOURCE    REFSEQ: accession NM_001363875.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 583)
  AUTHORS   Fussiger H, Pereira BLDS, Padilha JPD, Donis KC, Siebert M,
            Brusius-Facchin AC, Baldo G and Saute JAM.
  CONSRTM   Rare-Genomes Project Consortium
  TITLE     Copy number variations in SPAST and ATL1 are rare among Brazilians
  JOURNAL   Clin Genet 103 (5), 580-584 (2023)
   PUBMED   36537231
  REMARK    GeneRIF: Copy number variations in SPAST and ATL1 are rare among
            Brazilians.
REFERENCE   2  (residues 1 to 583)
  AUTHORS   Wang XC, Liu RH, Wang T, Wang Y, Jiang Y, Chen DD, Wang XY, Hou TS
            and Kong QX.
  TITLE     A novel missense mutation in SPAST causes hereditary spastic
            paraplegia in male members of a family: A case report
  JOURNAL   Mol Med Rep 27 (4) (2023)
   PUBMED   36825575
  REMARK    GeneRIF: A novel missense mutation in SPAST causes hereditary
            spastic paraplegia in male members of a family: A case report.
REFERENCE   3  (residues 1 to 583)
  AUTHORS   Temizci B, Kucukvardar S and Karabay A.
  TITLE     Spastin Promotes the Migration and Invasion Capability of T98G
            Glioblastoma Cells by Interacting with Pin1 through Its
            Microtubule-Binding Domain
  JOURNAL   Cells 12 (3), 427 (2023)
   PUBMED   36766769
  REMARK    GeneRIF: Spastin Promotes the Migration and Invasion Capability of
            T98G Glioblastoma Cells by Interacting with Pin1 through Its
            Microtubule-Binding Domain.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 583)
  AUTHORS   Zhang Y, He X, Zou J, Yang J, Ma A and Tan M.
  TITLE     Phosphorylation mutation impairs the promoting effect of spastin on
            neurite outgrowth without affecting its microtubule severing
            ability
  JOURNAL   Eur J Histochem 67 (1) (2023)
   PUBMED   36632786
  REMARK    GeneRIF: Phosphorylation mutation impairs the promoting effect of
            spastin on neurite outgrowth without affecting its microtubule
            severing ability.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 583)
  AUTHORS   Santorelli FM, Patrono C, Fortini D, Tessa A, Comanducci G, Bertini
            E, Pierallini A, Amabile GA and Casali C.
  TITLE     Intrafamilial variability in hereditary spastic paraplegia
            associated with an SPG4 gene mutation
  JOURNAL   Neurology 55 (5), 702-705 (2000)
   PUBMED   10980739
REFERENCE   6  (residues 1 to 583)
  AUTHORS   Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Bonsch D,
            Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM,
            Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A,
            Fontaine B, Prud'homme JF, Weissenbach J, Durr A and Hazan J.
  TITLE     Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
  JOURNAL   Hum Mol Genet 9 (4), 637-644 (2000)
   PUBMED   10699187
  REMARK    Erratum:[Hum Mol Genet. 2005 Feb 1;14(3):461. Boentsch, D
            [corrected to Bonsch, D]]
REFERENCE   7  (residues 1 to 583)
  AUTHORS   Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D,
            Artiguenave F, Davoine CS, Cruaud C, Durr A, Wincker P, Brottier P,
            Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A,
            Fontaine B, Heilig B and Weissenbach J.
  TITLE     Spastin, a new AAA protein, is altered in the most frequent form of
            autosomal dominant spastic paraplegia
  JOURNAL   Nat Genet 23 (3), 296-303 (1999)
   PUBMED   10610178
REFERENCE   8  (residues 1 to 583)
  AUTHORS   Hazan J, Davoine CS, Mavel D, Fonknechten N, Paternotte C, Fizames
            C, Cruaud C, Samson D, Muselet D, Vega-Czarny N, Brice A, Gyapay G,
            Heilig R, Fontaine B and Weissenbach J.
  TITLE     A fine integrated map of the SPG4 locus excludes an expanded CAG
            repeat in chromosome 2p-linked autosomal dominant spastic
            paraplegia
  JOURNAL   Genomics 60 (3), 309-319 (1999)
   PUBMED   10493830
REFERENCE   9  (residues 1 to 583)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   10 (residues 1 to 583)
  AUTHORS   Parodi,L., Rydning,S.L., Tallaksen,C. and Durr,A.
  TITLE     Spastic Paraplegia 4
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301339
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121655.1 and AL121658.4.
            On May 30, 2018 this sequence version replaced XP_016860266.1.
            
            Summary: This gene encodes a member of the AAA (ATPases associated
            with a variety of cellular activities) protein family. Members of
            this protein family share an ATPase domain and have roles in
            diverse cellular processes including membrane trafficking,
            intracellular motility, organelle biogenesis, protein folding, and
            proteolysis. The use of alternative translational initiation sites
            in this gene results in a single transcript variant that can
            produce isoforms that differ in the length of their N-terminus and
            which thereby differ in the efficiency of their export from the
            nucleus to the cytoplasm. In addition, alternative splicing results
            in multiple transcript variants that encode isoforms that differ in
            other protein regions as well. One isoform of this gene has been
            shown to be a microtubule-severing enzyme that regulates
            microtubule abundance, mobility, and plus-end distribution.
            Mutations in this gene cause the most frequent form of autosomal
            dominant spastic paraplegia 4. [provided by RefSeq, May 2018].
            
            Transcript Variant: This variant (4) has multiple differences in
            the coding region, compared to variant 1. It encodes a shorter
            isoform (4), compared to isoform 1. This variant is also predicted
            to use an alternate, in-frame, downstream translation initiation
            site to encode an even shorter isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.3267922.1,
                                           ERR4352443.638972.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..583
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.3"
     Protein         1..583
                     /product="spastin isoform 4"
                     /EC_number="5.6.1.1"
                     /note="spastic paraplegia 4 (autosomal dominant; spastin);
                     spastic paraplegia 4 protein"
                     /calculated_mol_wt=63404
     Region          116..194
                     /region_name="MIT_spastin"
                     /note="MIT: domain contained within Microtubule
                     Interacting and Trafficking molecules. This MIT domain
                     sub-family is found in the AAA protein spastin, a probable
                     ATPase involved in the assembly or function of nuclear
                     protein complexes; spastins might also be...; cd02679"
                     /db_xref="CDD:239142"
     Region          310..473
                     /region_name="RecA-like_spastin"
                     /note="ATPase domain of spastin; cd19524"
                     /db_xref="CDD:410932"
     Site            order(311..314,351..357)
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:410932"
     Region          500..554
                     /region_name="AAA_lid_3"
                     /note="AAA+ lid domain; pfam17862"
                     /db_xref="CDD:436099"
     Region          <547..579
                     /region_name="Vps4_C"
                     /note="Vps4 C terminal oligomerization domain; pfam09336"
                     /db_xref="CDD:430536"
     CDS             1..583
                     /gene="SPAST"
                     /gene_synonym="ADPSP; FSP2; SPG4"
                     /coded_by="NM_001363875.2:277..2028"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS86830.1"
                     /db_xref="GeneID:6683"
                     /db_xref="HGNC:HGNC:11233"
                     /db_xref="MIM:604277"
ORIGIN      
        1 mnspggrgkk kgsggasnpv pprppppcla pappaagpap ppesphkrnl yyfsyplfvg
       61 fallrlvafh lgllfvwlcq rfsralmaak rssgaapapa sasapapvpg geaervrvfh
      121 kqafeyisia lridedekgq keqavewykk gieelekgia vivtgqgeqc erarrlqakm
      181 mtnlvmakdr lqllesgavp krkdplthts nslprsktvm ktgsaglsgh hrapsysgls
      241 mvsgvkqgsg paptthkgtp ktnrtnkpst pttatrkkkd lknfrnvdsn lanlimneiv
      301 dngtavkfdd iagqdlakqa lqeivilpsl rpelftglra parglllfgp pgngktmlak
      361 avaaesnatf fnisaaslts kyvgegeklv ralfavarel qpsiifidev dsllcerreg
      421 ehdasrrlkt efliefdgvq sagddrvlvm gatnrpqeld eavlrrfikr vyvslpneet
      481 rllllknllc kqgspltqke laqlarmtdg ysgsdltala kdaalgpire lkpeqvknms
      541 asemrnirls dfteslkkik rsvspqtlea yirwnkdfgd ttv
//
LOCUS       NP_001365861             225 aa            linear   PRI 17-APR-2023
DEFINITION  suppressor of cytokine signaling 3 [Homo sapiens].
ACCESSION   NP_001365861
VERSION     NP_001365861.1
DBSOURCE    REFSEQ: accession NM_001378932.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 225)
  AUTHORS   Liu F, Wang Y, Cao Y, Wu Z, Ma D, Cai J, Sha J and Chen Q.
  TITLE     Transcription factor B-MYB activates lncRNA CCAT1 and upregulates
            SOCS3 to promote chemoresistance in colorectal cancer
  JOURNAL   Chem Biol Interact 374, 110412 (2023)
   PUBMED   36812959
  REMARK    GeneRIF: Transcription factor B-MYB activates lncRNA CCAT1 and
            upregulates SOCS3 to promote chemoresistance in colorectal cancer.
REFERENCE   2  (residues 1 to 225)
  AUTHORS   Li X, Yang Z, Chen B, Gu L, Tian G and Sui X.
  TITLE     SOCS3 as a potential driver of lung metastasis in colon cancer
            patients
  JOURNAL   Front Immunol 14, 1088542 (2023)
   PUBMED   37025997
  REMARK    GeneRIF: SOCS3 as a potential driver of lung metastasis in colon
            cancer patients.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 225)
  AUTHORS   Koc G, Doran T, Uygur MM and Kirac D.
  TITLE     Obesity is associated with IL-6 gene polymorphisms rs1800795 and
            rs1800796 but not SOCS3 rs4969170
  JOURNAL   Mol Biol Rep 50 (3), 2041-2048 (2023)
   PUBMED   36538174
  REMARK    GeneRIF: Obesity is associated with IL-6 gene polymorphisms
            rs1800795 and rs1800796 but not SOCS3 rs4969170.
REFERENCE   4  (residues 1 to 225)
  AUTHORS   Emamgholipour S, Esmaeili F, Shabani M, Hasanpour SZ, Pilehvari M,
            Zabihi-Mahmoudabadi H, Motevasseli M and Shanaki M.
  TITLE     Alterations of SOCS1 and SOCS3 transcript levels, but not promoter
            methylation levels in subcutaneous adipose tissues in obese women
  JOURNAL   BMC Endocr Disord 23 (1), 7 (2023)
   PUBMED   36609306
  REMARK    GeneRIF: Alterations of SOCS1 and SOCS3 transcript levels, but not
            promoter methylation levels in subcutaneous adipose tissues in
            obese women.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 225)
  AUTHORS   Ozcep M, Atsu N, Solak N and Celik SK.
  TITLE     Lack of association between SOCS3 and SOCS7 polymorphisms and
            psoriasis
  JOURNAL   Immun Inflamm Dis 10 (10), e695 (2022)
   PUBMED   36169255
  REMARK    GeneRIF: Lack of association between SOCS3 and SOCS7 polymorphisms
            and psoriasis.
REFERENCE   6  (residues 1 to 225)
  AUTHORS   Sasaki A, Yasukawa H, Suzuki A, Kamizono S, Syoda T, Kinjyo I,
            Sasaki M, Johnston JA and Yoshimura A.
  TITLE     Cytokine-inducible SH2 protein-3 (CIS3/SOCS3) inhibits Janus
            tyrosine kinase by binding through the N-terminal kinase inhibitory
            region as well as SH2 domain
  JOURNAL   Genes Cells 4 (6), 339-351 (1999)
   PUBMED   10421843
REFERENCE   7  (residues 1 to 225)
  AUTHORS   Zhang JG, Farley A, Nicholson SE, Willson TA, Zugaro LM, Simpson
            RJ, Moritz RL, Cary D, Richardson R, Hausmann G, Kile BT, Kent SB,
            Alexander WS, Metcalf D, Hilton DJ, Nicola NA and Baca M.
  TITLE     The conserved SOCS box motif in suppressors of cytokine signaling
            binds to elongins B and C and may couple bound proteins to
            proteasomal degradation
  JOURNAL   Proc Natl Acad Sci U S A 96 (5), 2071-2076 (1999)
   PUBMED   10051596
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jun 2;112(22):E2979. Kile,
            B J [corrected to Kile, Benjamin T]. PMID: 25956176]
REFERENCE   8  (residues 1 to 225)
  AUTHORS   Dey BR, Spence SL, Nissley P and Furlanetto RW.
  TITLE     Interaction of human suppressor of cytokine signaling (SOCS)-2 with
            the insulin-like growth factor-I receptor
  JOURNAL   J Biol Chem 273 (37), 24095-24101 (1998)
   PUBMED   9727029
REFERENCE   9  (residues 1 to 225)
  AUTHORS   Masuhara M, Sakamoto H, Matsumoto A, Suzuki R, Yasukawa H, Mitsui
            K, Wakioka T, Tanimura S, Sasaki A, Misawa H, Yokouchi M, Ohtsubo M
            and Yoshimura A.
  TITLE     Cloning and characterization of novel CIS family genes
  JOURNAL   Biochem Biophys Res Commun 239 (2), 439-446 (1997)
   PUBMED   9344848
REFERENCE   10 (residues 1 to 225)
  AUTHORS   Minamoto S, Ikegame K, Ueno K, Narazaki M, Naka T, Yamamoto H,
            Matsumoto T, Saito H, Hosoe S and Kishimoto T.
  TITLE     Cloning and functional analysis of new members of STAT induced STAT
            inhibitor (SSI) family: SSI-2 and SSI-3
  JOURNAL   Biochem Biophys Res Commun 237 (1), 79-83 (1997)
   PUBMED   9266833
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC061992.11.
            
            Summary: This gene encodes a member of the STAT-induced STAT
            inhibitor (SSI), also known as suppressor of cytokine signaling
            (SOCS), family. SSI family members are cytokine-inducible negative
            regulators of cytokine signaling. The expression of this gene is
            induced by various cytokines, including IL6, IL10, and interferon
            (IFN)-gamma. The protein encoded by this gene can bind to JAK2
            kinase, and inhibit the activity of JAK2 kinase. Studies of the
            mouse counterpart of this gene suggested the roles of this gene in
            the negative regulation of fetal liver hematopoiesis, and placental
            development. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..225
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..225
                     /product="suppressor of cytokine signaling 3"
                     /note="STAT-induced STAT inhibitor 3; cytokine-inducible
                     SH2 protein 3"
                     /calculated_mol_wt=24639
     Region          22..33
                     /region_name="Kinase inhibitory region (KIR)"
                     /note="propagated from UniProtKB/Swiss-Prot (O14543.1)"
     Region          34..45
                     /region_name="Extended SH2 subdomain (ESS)"
                     /note="propagated from UniProtKB/Swiss-Prot (O14543.1)"
     Region          35..135
                     /region_name="SH2_SOCS3"
                     /note="Src homology 2 (SH2) domain found in suppressor of
                     cytokine signaling (SOCS) proteins; cd10384"
                     /db_xref="CDD:198247"
     Site            order(53,71,73,81,94)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198247"
     Site            order(104,106,127)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198247"
     Region          131..162
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14543.1)"
     Region          184..225
                     /region_name="SOCS_SOCS3"
                     /note="SOCS (suppressors of cytokine signaling) box of
                     SOCS3-like proteins. Together with CIS1, the CIS/SOCS
                     family of proteins is characterized by the presence of a
                     C-terminal SOCS box and a central SH2 domain. SOCS3, like
                     CIS1 and SOCS1, is involved in the...; cd03737"
                     /db_xref="CDD:239706"
     Site            order(185..190,196,202,208,213)
                     /site_type="other"
                     /note="putative elongin B/C interaction [polypeptide
                     binding]"
                     /db_xref="CDD:239706"
     CDS             1..225
                     /gene="SOCS3"
                     /gene_synonym="ATOD4; CIS3; Cish3; SOCS-3; SSI-3; SSI3"
                     /coded_by="NM_001378932.1:112..789"
                     /db_xref="CCDS:CCDS11756.1"
                     /db_xref="GeneID:9021"
                     /db_xref="HGNC:HGNC:19391"
                     /db_xref="MIM:604176"
ORIGIN      
        1 mvthskfpaa gmsrpldtsl rlktfsskse yqlvvnavrk lqesgfywsa vtggeanlll
       61 saepagtfli rdssdqrhff tlsvktqsgt knlriqcegg sfslqsdprs tqpvprfdcv
      121 lklvhhympp pgapsfpspp tepssevpeq psaqplpgsp prrayyiysg gekiplvlsr
      181 plssnvatlq hlcrktvngh ldsyekvtql pgpirefldq ydapl
//
LOCUS       NP_001339149             191 aa            linear   PRI 17-DEC-2022
DEFINITION  ankyrin repeat and sterile alpha motif domain-containing protein 1B
            isoform ll [Homo sapiens].
ACCESSION   NP_001339149
VERSION     NP_001339149.1
DBSOURCE    REFSEQ: accession NM_001352220.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 191)
  AUTHORS   Yan J and Xu H.
  TITLE     Regulation of transforming growth factor-beta1 by
            circANKS1B/miR-515-5p affects the metastatic potential and
            cisplatin resistance in oral squamous cell carcinoma
  JOURNAL   Bioengineered 12 (2), 12420-12430 (2021)
   PUBMED   34781814
  REMARK    GeneRIF: Regulation of transforming growth factor-beta1 by
            circANKS1B/miR-515-5p affects the metastatic potential and
            cisplatin resistance in oral squamous cell carcinoma.
REFERENCE   2  (residues 1 to 191)
  AUTHORS   Tao LJ, Pan XY, Wang JW, Zhang L, Tao LS and Liang CZ.
  TITLE     Circular RNA circANKS1B acts as a sponge for miR-152-3p and
            promotes prostate cancer progression by upregulating TGF-alpha
            expression
  JOURNAL   Prostate 81 (5), 271-278 (2021)
   PUBMED   33556191
  REMARK    GeneRIF: Circular RNA circANKS1B acts as a sponge for miR-152-3p
            and promotes prostate cancer progression by upregulating TGF-alpha
            expression.
REFERENCE   3  (residues 1 to 191)
  AUTHORS   Carbonell AU, Cho CH, Tindi JO, Counts PA, Bates JC,
            Erdjument-Bromage H, Cvejic S, Iaboni A, Kvint I, Rosensaft J,
            Banne E, Anagnostou E, Neubert TA, Scherer SW, Molholm S and Jordan
            BA.
  TITLE     Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a
            neurodevelopmental syndrome
  JOURNAL   Nat Commun 10 (1), 3529 (2019)
   PUBMED   31388001
  REMARK    GeneRIF: Study describe monogenic copy-number variations in ANKS1B
            in individuals that display a previously undefined spectrum of
            neurodevelopmental phenotypes that authors term ANKS1B
            haploinsufficiency syndrome.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 191)
  AUTHORS   Zeng K, He B, Yang BB, Xu T, Chen X, Xu M, Liu X, Sun H, Pan Y and
            Wang S.
  TITLE     The pro-metastasis effect of circANKS1B in breast cancer
  JOURNAL   Mol Cancer 17 (1), 160 (2018)
   PUBMED   30454010
  REMARK    GeneRIF: Our data uncover an essential role of the novel circular
            RNA circANKS1B in the metastasis of breast cancer, which
            demonstrate that therapeutic targeting of circANKS1B may better
            prevent breast cancer metastasis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 191)
  AUTHORS   Ghersi E, Noviello C and D'Adamio L.
  TITLE     Amyloid-beta protein precursor (AbetaPP) intracellular
            domain-associated protein-1 proteins bind to AbetaPP and modulate
            its processing in an isoform-specific manner
  JOURNAL   J Biol Chem 279 (47), 49105-49112 (2004)
   PUBMED   15347684
  REMARK    GeneRIF: the interaction between AbetaPP and AIDA-1 is regulated by
            alternative splicing of the AIDA-1 protein
REFERENCE   6  (residues 1 to 191)
  AUTHORS   Ghersi E, Vito P, Lopez P, Abdallah M and D'Adamio L.
  TITLE     The intracellular localization of amyloid beta protein precursor
            (AbetaPP) intracellular domain associated protein-1 (AIDA-1) is
            regulated by AbetaPP and alternative splicing
  JOURNAL   J Alzheimers Dis 6 (1), 67-78 (2004)
   PUBMED   15004329
  REMARK    GeneRIF: AbetaPP and the AIDA-1 proteins interact in vitro, in
            living cells and, endogenously, in leukemia cell lines;AIDA-1
            proteins are expressed at high levels in the brain
REFERENCE   7  (residues 1 to 191)
  AUTHORS   LeBrun DP.
  TITLE     E2A basic helix-loop-helix transcription factors in human leukemia
  JOURNAL   Front Biosci 8, s206-s222 (2003)
   PUBMED   12700034
  REMARK    GeneRIF: Evidence pertaining to leukemogenesis by the
            well-characterized E2A-fusion protein E2A-PBX1 is reviewed and its
            mechanistic implications are considered.
            Review article
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 191)
  AUTHORS   Petersen HH, Hilpert J, Militz D, Zandler V, Jacobsen C, Roebroek
            AJ and Willnow TE.
  TITLE     Functional interaction of megalin with the megalinbinding protein
            (MegBP), a novel tetratrico peptide repeat-containing adaptor
            molecule
  JOURNAL   J Cell Sci 116 (Pt 3), 453-461 (2003)
   PUBMED   12508107
REFERENCE   9  (residues 1 to 191)
  AUTHORS   Wiemels JL, Leonard BC, Wang Y, Segal MR, Hunger SP, Smith MT,
            Crouse V, Ma X, Buffler PA and Pine SR.
  TITLE     Site-specific translocation and evidence of postnatal origin of the
            t(1;19) E2A-PBX1 fusion in childhood acute lymphoblastic leukemia
  JOURNAL   Proc Natl Acad Sci U S A 99 (23), 15101-15106 (2002)
   PUBMED   12415113
  REMARK    GeneRIF: site-specific translocation and evidence of postnatal
            origin of the t(1;19) fusion in childhood acute lymphoblastic
            leukemia
REFERENCE   10 (residues 1 to 191)
  AUTHORS   Fu X, McGrath S, Pasillas M, Nakazawa S and Kamps MP.
  TITLE     EB-1, a tyrosine kinase signal transduction gene, is
            transcriptionally activated in the t(1;19) subset of pre-B ALL,
            which express oncoprotein E2a-Pbx1
  JOURNAL   Oncogene 18 (35), 4920-4929 (1999)
   PUBMED   10490826
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008126.9 and AC011248.8.
            
            Summary: This gene encodes a multi-domain protein that is
            predominantly expressed in brain and testis. This protein interacts
            with amyloid beta protein precursor (AbetaPP) and may have a role
            in normal brain development, and in the pathogenesis of Alzheimer's
            disease. Expression of this gene has been shown to be elevated in
            patients with pre-B cell acute lymphocytic leukemia associated with
            t(1;19) translocation. Alternatively spliced transcript variants
            encoding different isoforms (some with different subcellular
            localization, PMID:15004329) have been described for this gene.
            [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (47), as well as variants 44, 45,
            46, and 48, encodes isoform ll.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AL567413.3, DA359929.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1968189,
                                    SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..191
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     Protein         1..191
                     /product="ankyrin repeat and sterile alpha motif
                     domain-containing protein 1B isoform ll"
                     /note="E2a-Pbx1-associated protein; amyloid-beta precursor
                     protein intracellular domain associated protein 1; cajalin
                     2"
                     /calculated_mol_wt=21326
     Region          1..126
                     /region_name="PTB_Anks"
                     /note="Ankyrin repeat and sterile alpha motif (SAM)
                     domain-containing (Anks) protein family
                     Phosphotyrosine-binding (PTB) domain; cd01274"
                     /db_xref="CDD:269972"
     Site            order(64..69,82,106,110)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269972"
     CDS             1..191
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /coded_by="NM_001352220.2:395..970"
                     /note="isoform ll is encoded by transcript variant 47"
                     /db_xref="GeneID:56899"
                     /db_xref="HGNC:HGNC:24600"
                     /db_xref="MIM:607815"
ORIGIN      
        1 mlikelrgte stqdacakmr ancqksteqm kkvptiilsv sykgvkfida tnkniiaehe
       61 irniscaaqd pedlstfayi tkdlksnhhy chvftafdvn layeiiltlg qafevayqla
      121 lqarkgghss tlpesfenkp skpipkprvs irksvqidps eqktlanlpw ivepgqeakr
      181 gintkyetti f
//
LOCUS       NP_055914               1202 aa            linear   PRI 18-DEC-2022
DEFINITION  calmodulin-binding transcription activator 2 isoform 1 [Homo
            sapiens].
ACCESSION   NP_055914
VERSION     NP_055914.2
DBSOURCE    REFSEQ: accession NM_015099.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1202)
  AUTHORS   Monies D, Abou Al-Shaar H, Goljan EA, Al-Younes B, Al-Breacan MMA,
            Al-Saif MM, Wakil SM, Meyer BF, Khabar KSA and Bohlega S.
  TITLE     Identification of a novel genetic locus underlying tremor and
            dystonia
  JOURNAL   Hum Genomics 11 (1), 25 (2017)
   PUBMED   29110692
  REMARK    GeneRIF: Mutation of CAMTA2 resulting in post-transcriptional
            inhibition of its own gene activity likely underlies a novel
            syndromic tremulous dystonia.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1202)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   3  (residues 1 to 1202)
  AUTHORS   Finkler A, Ashery-Padan R and Fromm H.
  TITLE     CAMTAs: calmodulin-binding transcription activators from plants to
            human
  JOURNAL   FEBS Lett 581 (21), 3893-3898 (2007)
   PUBMED   17689537
  REMARK    Review article
REFERENCE   4  (residues 1 to 1202)
  AUTHORS   Liu N and Olson EN.
  TITLE     Coactivator control of cardiovascular growth and remodeling
  JOURNAL   Curr Opin Cell Biol 18 (6), 715-722 (2006)
   PUBMED   17046230
  REMARK    Review article
REFERENCE   5  (residues 1 to 1202)
  AUTHORS   Song K, Backs J, McAnally J, Qi X, Gerard RD, Richardson JA, Hill
            JA, Bassel-Duby R and Olson EN.
  TITLE     The transcriptional coactivator CAMTA2 stimulates cardiac growth by
            opposing class II histone deacetylases
  JOURNAL   Cell 125 (3), 453-466 (2006)
   PUBMED   16678093
REFERENCE   6  (residues 1 to 1202)
  AUTHORS   Schwartz RJ and Schneider MD.
  TITLE     CAMTA in cardiac hypertrophy
  JOURNAL   Cell 125 (3), 427-429 (2006)
   PUBMED   16678087
  REMARK    Review article
REFERENCE   7  (residues 1 to 1202)
  AUTHORS   Bouche N, Scharlat A, Snedden W, Bouchez D and Fromm H.
  TITLE     A novel family of calmodulin-binding transcription activators in
            multicellular organisms
  JOURNAL   J Biol Chem 277 (24), 21851-21861 (2002)
   PUBMED   11925432
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004771.1, DB275145.1 and AB020716.1.
            On Apr 14, 2003 this sequence version replaced NP_055914.1.
            
            Summary: The protein encoded by this gene is a member of the
            calmodulin-binding transcription activator protein family. Members
            of this family share a common domain structure that consists of a
            transcription activation domain, a DNA-binding domain, and a
            calmodulin-binding domain. The encoded protein may be a
            transcriptional coactivator of genes involved in cardiac growth.
            Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC142695.1, AB020716.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000348066.8/ ENSP00000321813.7
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1202
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     Protein         1..1202
                     /product="calmodulin-binding transcription activator 2
                     isoform 1"
                     /calculated_mol_wt=131399
     Region          34..150
                     /region_name="CG-1"
                     /note="CG-1 domains are highly conserved domains of about
                     130 amino-acid residues; smart01076"
                     /db_xref="CDD:198144"
     Region          79..86
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00767"
                     /note="propagated from UniProtKB/Swiss-Prot (O94983.3)"
     Region          263..322
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94983.3)"
     Region          361..409
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94983.3)"
     Region          421..491
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94983.3)"
     Region          534..614
                     /region_name="TIG"
                     /note="IPT/TIG domain; pfam01833"
                     /db_xref="CDD:426462"
     Site            order(710,712,716..717,720..722,724..725,729,744,753,755,
                     757,761..762,765..767,769..770,774,777,787,789,791,
                     795..796,799..801,803..804,808)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          710..753
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          712..745
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94983.3)"
     Region          715..807
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          755..787
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          757..787
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (O94983.3)"
     Region          791..821
                     /region_name="ANK 3"
                     /note="propagated from UniProtKB/Swiss-Prot (O94983.3)"
     Region          817..874
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94983.3)"
     Region          906..929
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94983.3)"
     CDS             1..1202
                     /gene="CAMTA2"
                     /coded_by="NM_015099.4:148..3756"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS11063.1"
                     /db_xref="GeneID:23125"
                     /db_xref="HGNC:HGNC:18807"
                     /db_xref="MIM:611508"
ORIGIN      
        1 mntkdtteva enshhlkifl pkklleclpr cpllpperlr wntneeiasy litfekhdew
       61 lscapktrpq ngsiilynrk kvkyrkdgyl wkkrkdgktt redhmklkvq gmeclygcyv
      121 hssivptfhr rcywllqnpd ivlvhylnvp aledcgkgcs pifcsissdr rewlkwsree
      181 llgqlkpmfh gikwscgngt eefsvehlvq qildthptkp aprthaclcs gglgsgslth
      241 kcsstkhrii spkvepralt ltsiphahpp epppliaplp pelpkahtsp sssssssssg
      301 faepleirps pptsrggssr ggtaillltg leqraggltp trhlapqadp rpsmslavvv
      361 gtepsappap pspafdpdrf lnspqrgqty gggqgvspdf peaeaahtpc salepaaale
      421 pqaaargppp qsvaggrrgn cffiqdddsg eelkghgaap pipspppspp pspaplepss
      481 rvgrgealfg gpvgaselep fslssfpdlm gelisdeaps ipaptpqlsp alstitdfsp
      541 ewsypeggvk vlitgpwtea aehyscvfdh iavpaslvqp gvlrcycpah evglvslqva
      601 gregplsasv lfeyrarrfl slpstqldwl slddnqfrms ilerleqmek rmaeiaaagq
      661 vpcqgpdapp vqdegqgpgf earvvvlves miprstwkgp erlahgspfr gmsllhlaaa
      721 qgyarlietl sqwrsvetgs ldleqevdpl nvdhfsctpl mwacalghle aavllfrwnr
      781 qalsipdslg rlplsvahsr ghvrlarcle elqrqepsve ppfalsppss spdtglssvs
      841 spselsdgtf svtsayssap dgspppaplp asemtmedma pgqlssgvpe aplllmdyea
      901 tnskgplssl palppasddg aapedadspq avdvipvdmi slakqiieat perikredfv
      961 glpeagasmr ertgavglse tmswlasyle nvdhfpsstp pselpfergr lavpsapswa
     1021 eflsastsgk mesdfalltl sdheqrelye aarviqtafr kykgrrlkeq qevaaaviqr
     1081 cyrkykqltw ialkfalykk mtqaailiqs kfrsyyeqkr fqqsrraavl iqqhyrsyrr
     1141 rpgpphrtsa tlparnkgsf ltkkqdqaar kimrflrrcr hrmrelkqnq eleglpqpgl
     1201 at
//
LOCUS       NP_079255               1123 aa            linear   PRI 19-DEC-2022
DEFINITION  guanine nucleotide exchange factor DBS isoform b precursor [Homo
            sapiens].
ACCESSION   NP_079255
VERSION     NP_079255.4
DBSOURCE    REFSEQ: accession NM_024979.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1123)
  AUTHORS   Kong W, Li H, Xie L, Cui G, Gu W, Zhang H, Ma W and Zhou Y.
  TITLE     LncRNA MCF2L-AS1 aggravates the malignant development of colorectal
            cancer via targeting miR-105-5p/RAB22A axis
  JOURNAL   BMC Cancer 21 (1), 1069 (2021)
   PUBMED   34592939
  REMARK    GeneRIF: LncRNA MCF2L-AS1 aggravates the malignant development of
            colorectal cancer via targeting miR-105-5p/RAB22A axis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1123)
  AUTHORS   Mao JH, Sui YX, Ao S, Wang Y, Liu Y and Leng H.
  TITLE     miR-140-3p exhibits repressive functions on preosteoblast viability
            and differentiation by downregulating MCF2L in osteoporosis
  JOURNAL   In Vitro Cell Dev Biol Anim 56 (1), 49-58 (2020)
   PUBMED   31732956
  REMARK    GeneRIF: miR-140-3p exhibits repressive functions on preosteoblast
            viability and differentiation by downregulating MCF2L in
            osteoporosis.
REFERENCE   3  (residues 1 to 1123)
  AUTHORS   Zhang YJ, Wen CL, Qin YX, Tang XM, Shi MM, Shen BY and Fang Y.
  TITLE     Establishment of a human primary pancreatic cancer mouse model to
            examine and investigate gemcitabine resistance
  JOURNAL   Oncol Rep 38 (6), 3335-3346 (2017)
   PUBMED   29039610
  REMARK    GeneRIF: When compared to the gemcitabine-sensitive cells, the
            gemcitabine-resistant cells had a higher level of MCF2L expression,
            suggesting that MCF2L plays an important role in gemcitabine
            resistance
REFERENCE   4  (residues 1 to 1123)
  AUTHORS   Maiwald S, Motazacker MM, van Capelleveen JC, Sivapalaratnam S, van
            der Wal AC, van der Loos C, Kastelein JJ, Ouwehand WH, Hovingh GK,
            Trip MD, van Buul JD and Dallinga-Thie GM.
  TITLE     A rare variant in MCF2L identified using exclusion linkage in a
            pedigree with premature atherosclerosis
  JOURNAL   Eur J Hum Genet 24 (1), 86-91 (2016)
   PUBMED   25898923
  REMARK    GeneRIF: A rare variant in MCF2L has been identified using
            exclusion linkage in a pedigree with premature atherosclerosis.
REFERENCE   5  (residues 1 to 1123)
  AUTHORS   Shepherd C, Skelton AJ, Rushton MD, Reynard LN and Loughlin J.
  TITLE     Expression analysis of the osteoarthritis genetic susceptibility
            locus mapping to an intron of the MCF2L gene and marked by the
            polymorphism rs11842874
  JOURNAL   BMC Med Genet 16, 108 (2015)
   PUBMED   26584642
  REMARK    GeneRIF: MCF2L is subject to a cis-acting eQTL in synovial membrane
            that correlates with the OA association signal. This signal
            contains several functional SNPs that could account for the
            susceptibility and which therefore merit further investigation
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1123)
  AUTHORS   Snyder JT, Worthylake DK, Rossman KL, Betts L, Pruitt WM,
            Siderovski DP, Der CJ and Sondek J.
  TITLE     Structural basis for the selective activation of Rho GTPases by Dbl
            exchange factors
  JOURNAL   Nat Struct Biol 9 (6), 468-475 (2002)
   PUBMED   12006984
REFERENCE   7  (residues 1 to 1123)
  AUTHORS   Rossman KL, Worthylake DK, Snyder JT, Siderovski DP, Campbell SL
            and Sondek J.
  TITLE     A crystallographic view of interactions between Dbs and Cdc42: PH
            domain-assisted guanine nucleotide exchange
  JOURNAL   EMBO J 21 (6), 1315-1326 (2002)
   PUBMED   11889037
REFERENCE   8  (residues 1 to 1123)
  AUTHORS   Harrington AW, Kim JY and Yoon SO.
  TITLE     Activation of Rac GTPase by p75 is necessary for c-jun N-terminal
            kinase-mediated apoptosis
  JOURNAL   J Neurosci 22 (1), 156-166 (2002)
   PUBMED   11756498
REFERENCE   9  (residues 1 to 1123)
  AUTHORS   Whitehead IP, Lambert QT, Glaven JA, Abe K, Rossman KL, Mahon GM,
            Trzaskos JM, Kay R, Campbell SL and Der CJ.
  TITLE     Dependence of Dbl and Dbs transformation on MEK and NF-kappaB
            activation
  JOURNAL   Mol Cell Biol 19 (11), 7759-7770 (1999)
   PUBMED   10523665
REFERENCE   10 (residues 1 to 1123)
  AUTHORS   Horii Y, Beeler JF, Sakaguchi K, Tachibana M and Miki T.
  TITLE     A novel oncogene, ost, encodes a guanine nucleotide exchange factor
            that potentially links Rho and Rac signaling pathways
  JOURNAL   EMBO J 13 (20), 4776-4786 (1994)
   PUBMED   7957046
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB476653.1, AK295047.1,
            AL162454.23, AL137002.19 and AW241629.1.
            On Jul 2, 2011 this sequence version replaced NP_079255.3.
            
            Summary: This gene encodes a guanine nucleotide exchange factor
            that interacts specifically with the GTP-bound Rac1 and plays a
            role in the Rho/Rac signaling pathways. A variant in this gene was
            associated with osteoarthritis. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and 5'
            coding region, compared to variant 1, resulting in an isoform (b)
            with a distinct and shorter N-terminus, compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            CCDS Note: The coding region has been updated to represent an
            alternative splicing pattern that is more supported by the
            available transcript data.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK295047.1, SRR7346977.1811504.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1123
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     Protein         1..1123
                     /product="guanine nucleotide exchange factor DBS isoform b
                     precursor"
                     /note="MCF2 transforming sequence-like protein; guanine
                     nucleotide exchange factor DBS; DBL's big sister"
                     /calculated_mol_wt=123330
     sig_peptide     1..24
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2799
     Region          44..189
                     /region_name="SEC14"
                     /note="Domain in homologues of a S. cerevisiae
                     phosphatidylinositol transfer protein (Sec14p);
                     smart00516"
                     /db_xref="CDD:214706"
     Site            order(61,63,65,89,103,105,113,117,121,125,128,131,133,140,
                     148,160)
                     /site_type="other"
                     /note="phospholipid binding pocket [chemical binding]"
                     /db_xref="CDD:238099"
     Site            order(126,159)
                     /site_type="other"
                     /note="salt bridge"
                     /db_xref="CDD:238099"
     Region          320..507
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            425..430
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          600..777
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(606,610,707,729..730,733..734,736..737,740..741,
                     744..745,748,773,777)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          784..915
                     /region_name="PH_Dbs"
                     /note="DBL's big sister protein pleckstrin homology (PH)
                     domain; cd01227"
                     /db_xref="CDD:269934"
     Site            order(854,856)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:269934"
     Region          1027..1080
                     /region_name="SH3_DBS"
                     /note="Src homology 3 domain of DBL's Big Sister (DBS), a
                     guanine nucleotide exchange factor; cd11857"
                     /db_xref="CDD:212791"
     Site            order(1032,1034,1037,1041,1059..1060,1075,1077..1078)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212791"
     CDS             1..1123
                     /gene="MCF2L"
                     /gene_synonym="ARHGEF14; DBS; OST"
                     /coded_by="NM_024979.4:198..3569"
                     /note="isoform b precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS9527.3"
                     /db_xref="GeneID:23263"
                     /db_xref="HGNC:HGNC:14576"
                     /db_xref="MIM:609499"
ORIGIN      
        1 mtvrrlsllc rdlwalwlll kagadeimhq divplcaadi qdqlkkrfay lsggrgqdgs
       61 pvitfpdypa fseipdkefq nvmtyltsip slqdagigfi lvidrrrdkw tsvkasvlri
      121 aasfpanlql vlvlrptgff qrtlsdiafk fnrddfkmkv pvimlssvpd lhgyidksql
      181 tedlggtldy chsrwlcqrt aiesfalmvk qtaqmlqsfg telaetelpn dvqstssvlc
      241 ahtekkdkak edlrlalkeg hsvleslrel qaegsepsvn qdqldnqatv qrllaqlnet
      301 eaafdefwak hqqkleqclq lrhfeqgfre vkaildaasq kiatftdign slahvehllr
      361 dlasfeeksg vaverarals ldgeqlignk hyavdsirpk cqelrhlcdq fsaeiarrrg
      421 llskslelhr rletsmkwcd egiyllasqp vdkcqsqdga eaalqeiekf letgaenkiq
      481 elnaiykeye silnqdlmeh vrkvfqkqas meevfhrrqa slkklaarqt rpvqpvaprp
      541 ealakspcps pgirrgsens sseggalrrg pyrraksems esrqgrgsag eeeeslailr
      601 rhvmselldt erayveellc vlegyaaemd nplmahllst glhnkkdvlf gnmeeiyhfh
      661 nriflrelen ytdcpelvgr cflermedfq iyekycqnkp rseslwrqcs dcpffqecqr
      721 kldhklslds yllkpvqrit kyqlllkeml kysrncegae dlqealssil gilkavndsm
      781 hliaitgydg nlgdlgkllm qgsfsvwtdh krghtkvkel arfkpmqrhl flhekavlfc
      841 kkreengegy ekapsysykq slnmaavgit envkgdakkf eiwynareev yivqaptpei
      901 kaawvneirk vltsqlqacr easqhraleq sqslplpapt stspsrgnsr nikkleerkt
      961 dplslegyvs sapltkppek gkgwsktshs leapeddggw ssaeeqinss daeedgglgp
     1021 kklvpgkytv vadhekggpd alrvrsgdvv elvqegdegl wyvrdpttgk egwvpassls
     1081 vrlgpsgsaq clsssesspg savlsnsssc seggqapfsd lqg
//
LOCUS       NP_001161419             222 aa            linear   PRI 24-DEC-2022
DEFINITION  mitochondrial import inner membrane translocase subunit Tim17-B
            isoform 1 [Homo sapiens].
ACCESSION   NP_001161419
VERSION     NP_001161419.1
DBSOURCE    REFSEQ: accession NM_001167947.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 222)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 222)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 222)
  AUTHORS   Schusdziarra C, Blamowska M, Azem A and Hell K.
  TITLE     Methylation-controlled J-protein MCJ acts in the import of proteins
            into human mitochondria
  JOURNAL   Hum Mol Genet 22 (7), 1348-1357 (2013)
   PUBMED   23263864
REFERENCE   4  (residues 1 to 222)
  AUTHORS   Shames SR, Croxen MA, Deng W and Finlay BB.
  TITLE     The type III system-secreted effector EspZ localizes to host
            mitochondria and interacts with the translocase of inner
            mitochondrial membrane 17b
  JOURNAL   Infect Immun 79 (12), 4784-4790 (2011)
   PUBMED   21947777
  REMARK    GeneRIF: The findings of this study together provide the first
            evidence that EspZ localizes to host mitochondria and that TIM17b
            contributes to protection against rapid cell death during EPEC
            infection.
REFERENCE   5  (residues 1 to 222)
  AUTHORS   Sinha D, Joshi N, Chittoor B, Samji P and D'Silva P.
  TITLE     Role of Magmas in protein transport and human mitochondria
            biogenesis
  JOURNAL   Hum Mol Genet 19 (7), 1248-1262 (2010)
   PUBMED   20053669
REFERENCE   6  (residues 1 to 222)
  AUTHORS   Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C,
            O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M,
            Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J,
            Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M,
            Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray
            P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd
            R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de
            Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers
            HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau
            J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan
            E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF,
            Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE,
            Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA and
            Stratton MR.
  TITLE     A systematic, large-scale resequencing screen of X-chromosome
            coding exons in mental retardation
  JOURNAL   Nat Genet 41 (5), 535-543 (2009)
   PUBMED   19377476
REFERENCE   7  (residues 1 to 222)
  AUTHORS   Bauer MF, Gempel K, Reichert AS, Rappold GA, Lichtner P, Gerbitz
            KD, Neupert W, Brunner M and Hofmann S.
  TITLE     Genetic and structural characterization of the human mitochondrial
            inner membrane translocase
  JOURNAL   J Mol Biol 289 (1), 69-82 (1999)
   PUBMED   10339406
REFERENCE   8  (residues 1 to 222)
  AUTHORS   Rassow J, Dekker PJ, van Wilpe S, Meijer M and Soll J.
  TITLE     The preprotein translocase of the mitochondrial inner membrane:
            function and evolution
  JOURNAL   J Mol Biol 286 (1), 105-120 (1999)
   PUBMED   9931253
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF034790.1, CB993524.1,
            AJ005895.1 and CA421979.1.
            
            Summary: This gene encodes a multipass transmembrane protein that
            forms an integral component of the mitochondrial translocase TIM23
            complex. This complex facilitates the transport of mitochondrial
            proteins from the cytosol across the mitochondrial inner membrane
            and into the mitochondrion. There is a pseudogene for this gene on
            chromosome 12. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2013].
            
            ##Evidence-Data-START##
            CDS exon combination :: BC091473.1, SRR1163658.138437.1
                                    [ECO:0000331]
            RNAseq introns       :: partial sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..222
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     Protein         1..222
                     /product="mitochondrial import inner membrane translocase
                     subunit Tim17-B isoform 1"
                     /note="inner mitochondrial membrane preprotein
                     translocase; mitochondrial import inner membrane
                     translocase subunit Tim17-B; translocase of inner
                     mitochondrial membrane 17 homolog B"
                     /calculated_mol_wt=23692
     Region          1..221
                     /region_name="Tim17"
                     /note="Tim17/Tim22/Tim23/Pmp24 family; cl02381"
                     /db_xref="CDD:445766"
     CDS             1..222
                     /gene="TIMM17B"
                     /gene_synonym="DXS9822; JM3; TIM17B"
                     /coded_by="NM_001167947.2:150..818"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS55411.1"
                     /db_xref="GeneID:10245"
                     /db_xref="HGNC:HGNC:17310"
                     /db_xref="MIM:300249"
ORIGIN      
        1 meeyarepcp wrivddcgga ftmgvigggv fqaikgfrna pvcrllseap lfiyscsrsv
       61 sptvnvsser aesrptlfma vslhmawcla higirhrlrg sanavrirap qiggsfavwg
      121 glfstidcgl vrlrgkedpw nsitsgaltg avlaarsgpl amvgsammgg illaliegvg
      181 illtrytaqq frnappfled psqlppkdgt papgypsyqq yh
//
LOCUS       NP_001350610             890 aa            linear   PRI 24-DEC-2022
DEFINITION  nuclear factor of activated T-cells, cytoplasmic 4 isoform 8 [Homo
            sapiens].
ACCESSION   NP_001350610 XP_011535099
VERSION     NP_001350610.1
DBSOURCE    REFSEQ: accession NM_001363681.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 890)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (residues 1 to 890)
  AUTHORS   Zhang X, Lei F, Wang XM, Deng KQ, Ji YX, Zhang Y, Li H, Zhang XD,
            Lu Z and Zhang P.
  TITLE     NULP1 Alleviates Cardiac Hypertrophy by Suppressing NFAT3
            Transcriptional Activity
  JOURNAL   J Am Heart Assoc 9 (16), e016419 (2020)
   PUBMED   32805187
  REMARK    GeneRIF: NULP1 Alleviates Cardiac Hypertrophy by Suppressing NFAT3
            Transcriptional Activity.
REFERENCE   3  (residues 1 to 890)
  AUTHORS   Cole AJ, Iyengar M, Panesso-Gomez S, O'Hayer P, Chan D, Delgoffe
            GM, Aird KM, Yoon E, Bai S and Buckanovich RJ.
  TITLE     NFATC4 promotes quiescence and chemotherapy resistance in ovarian
            cancer
  JOURNAL   JCI Insight 5 (7), 131486 (2020)
   PUBMED   32182216
  REMARK    GeneRIF: NFATC4 promotes quiescence and chemotherapy resistance in
            ovarian cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 890)
  AUTHORS   Kaminuma O, Kitamura N, Nishito Y, Nemoto S, Tatsumi H, Mori A and
            Hiroi T.
  TITLE     Downregulation of NFAT3 Due to Lack of T-Box Transcription Factor
            TBX5 Is Crucial for Cytokine Expression in T Cells
  JOURNAL   J Immunol 200 (1), 92-100 (2018)
   PUBMED   29180489
  REMARK    GeneRIF: TBX5 deficiency-mediated downregulation of NFAT3 is
            crucial for the high cytokine-producing activity of T cells
REFERENCE   5  (residues 1 to 890)
  AUTHORS   Perroud J, Bernheim L, Frieden M and Koenig S.
  TITLE     Distinct roles of NFATc1 and NFATc4 in human primary myoblast
            differentiation and in the maintenance of reserve cells
  JOURNAL   J Cell Sci 130 (18), 3083-3093 (2017)
   PUBMED   28760926
  REMARK    GeneRIF: NFATc1 knockdown strongly reduced the number and the
            surface area of myotubes, NFATc4 knockdown increased the surface
            area of myotubes and reduced the pool of reserve cells.
REFERENCE   6  (residues 1 to 890)
  AUTHORS   Molkentin JD, Lu JR, Antos CL, Markham B, Richardson J, Robbins J,
            Grant SR and Olson EN.
  TITLE     A calcineurin-dependent transcriptional pathway for cardiac
            hypertrophy
  JOURNAL   Cell 93 (2), 215-228 (1998)
   PUBMED   9568714
REFERENCE   7  (residues 1 to 890)
  AUTHORS   Aramburu J, Garcia-Cozar F, Raghavan A, Okamura H, Rao A and Hogan
            PG.
  TITLE     Selective inhibition of NFAT activation by a peptide spanning the
            calcineurin targeting site of NFAT
  JOURNAL   Mol Cell 1 (5), 627-637 (1998)
   PUBMED   9660947
REFERENCE   8  (residues 1 to 890)
  AUTHORS   Rao A, Luo C and Hogan PG.
  TITLE     Transcription factors of the NFAT family: regulation and function
  JOURNAL   Annu Rev Immunol 15, 707-747 (1997)
   PUBMED   9143705
  REMARK    Review article
REFERENCE   9  (residues 1 to 890)
  AUTHORS   Hoey T, Sun YL, Williamson K and Xu X.
  TITLE     Isolation of two new members of the NF-AT gene family and
            functional characterization of the NF-AT proteins
  JOURNAL   Immunity 2 (5), 461-472 (1995)
   PUBMED   7749981
REFERENCE   10 (residues 1 to 890)
  AUTHORS   Vacca A, Farina M, Maroder M, Alesse E, Screpanti I, Frati L and
            Gulino A.
  TITLE     Human immunodeficiency virus type-1 tat enhances interleukin-2
            promoter activity through synergism with phorbol ester and
            calcium-mediated activation of the NF-AT cis-regulatory motif
  JOURNAL   Biochem Biophys Res Commun 205 (1), 467-474 (1994)
   PUBMED   7999066
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL096870.5 and EU887644.1.
            On May 30, 2018 this sequence version replaced XP_011535099.1.
            
            Summary: This gene encodes a member of the nuclear factor of
            activated T cells (NFAT) protein family. The encoded protein is
            part of a DNA-binding transcription complex. This complex consists
            of at least two components: a preexisting cytosolic component that
            translocates to the nucleus upon T cell receptor stimulation and an
            inducible nuclear component. NFAT proteins are activated by the
            calmodulin-dependent phosphatase, calcineurin. The encoded protein
            plays a role in the inducible expression of cytokine genes in T
            cells, especially in the induction of interleukin-2 and
            interleukin-4. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jan 2014].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EU887644.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..890
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     Protein         1..890
                     /product="nuclear factor of activated T-cells, cytoplasmic
                     4 isoform 8"
                     /note="nuclear factor of activated T-cells, cytoplasmic 4;
                     T-cell transcription factor NFAT3; nuclear factor of
                     activated T-cells, cytoplasmic, calcineurin-dependent 4"
                     /calculated_mol_wt=94015
     Region          <202..401
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          395..568
                     /region_name="RHD-n_NFAT"
                     /note="N-terminal sub-domain of the Rel homology domain
                     (RHD) of nuclear factor of activated T-cells (NFAT)
                     proteins; cd07881"
                     /db_xref="CDD:143641"
     Site            order(418,421,423..424,426..428,475,516,518..519,533..534,
                     536,567)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143641"
     Region          573..673
                     /region_name="IPT_NFAT"
                     /note="IPT domain of the NFAT family of transcription
                     factors. NFAT transcription complexes are a target of
                     calcineurin, a calcium dependent phosphatase, and activate
                     genes mainly involved in cell-cell-interaction; cd01178"
                     /db_xref="CDD:238583"
     Site            order(597,661)
                     /site_type="DNA binding"
                     /note="DNA binding sites [nucleotide binding]"
                     /db_xref="CDD:238583"
     CDS             1..890
                     /gene="NFATC4"
                     /gene_synonym="NF-AT3; NF-ATC4; NFAT3"
                     /coded_by="NM_001363681.1:316..2988"
                     /note="isoform 8 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS86380.1"
                     /db_xref="GeneID:4776"
                     /db_xref="HGNC:HGNC:7778"
                     /db_xref="MIM:602699"
ORIGIN      
        1 mpasissifp gptlllscgs eeldsedapp ccrlalgepp pygaapigip rpppprpgmh
       61 sppprpapsp gtwesqpars vrlggpggga ggagggrvle cpsiritsis ptpeppaale
      121 dnpdawgdgs prdypppegf ggyreaggqg ggaffspspg ssslsswsff sdasdeaaly
      181 aacdevesel neaasrfglg splpsprasp rpwtpedpws lygpspggrg pedswlllsa
      241 pgptpasprp aspcgkrrys ssgtpssasp alsrrgslge egsepppppp lplardpgsp
      301 gpfdyvgapp aesipqktrr tsseqavalp rseepascng klplgaeesv appggsrkev
      361 agmdylavps plawskarig ghspifrtsa lppldwplps qyeqlelrie vqprahhrah
      421 yetegsrgav kaapgghpvv kllgysekpl tlqmfigtad ernlrphafy qvhritgkmv
      481 atasyeavvs gtkvlemtll pennmaanid cagilklrns dielrkgetd igrkntrvrl
      541 vfrvhvpqgg gkvvsvqaas vpiecsqrsa qelpqveays psacsvrgge elvltgsnfl
      601 pdskvvfier gpdgklqwee eatvnrlqsn evtltltvpe ysnkrvsrpv qvyfyvsngr
      661 rkrsptqsfr flpvickeep lpdsslrgfp sasatpfgtd mdfspprppy psyphedpac
      721 etpylsegfg ygmpplypqt gpppsyrpgl rmfpetrgtt gcaqppavsf lprpfpsdpy
      781 ggrgssfslg lpfsppapfr ppplpasppl egpfpsqsdv hplpaegynk vgpgygpgeg
      841 apeqeksrgg yssgfrdsvp iqgitleevs eiigrdlsgf pappgeeppa
//
LOCUS       NP_055892                724 aa            linear   PRI 25-DEC-2022
DEFINITION  NAD(+) hydrolase SARM1 precursor [Homo sapiens].
ACCESSION   NP_055892
VERSION     NP_055892.2
DBSOURCE    REFSEQ: accession NM_015077.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 724)
  AUTHORS   Ademi M, Yang X, Coleman MP and Gilley J.
  TITLE     Natural variants of human SARM1 cause both intrinsic and dominant
            loss-of-function influencing axon survival
  JOURNAL   Sci Rep 12 (1), 13846 (2022)
   PUBMED   35974060
  REMARK    GeneRIF: Natural variants of human SARM1 cause both intrinsic and
            dominant loss-of-function influencing axon survival.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 724)
  AUTHORS   Wu Y.
  TITLE     Circ_0044516 Enriches the Level of SARM1 as a miR-330-5p Sponge to
            Regulate Cell Malignant Behaviors and Tumorigenesis of Prostate
            Cancer
  JOURNAL   Biochem Genet 60 (4), 1346-1361 (2022)
   PUBMED   34993722
  REMARK    GeneRIF: Circ_0044516 Enriches the Level of SARM1 as a miR-330-5p
            Sponge to Regulate Cell Malignant Behaviors and Tumorigenesis of
            Prostate Cancer.
REFERENCE   3  (residues 1 to 724)
  AUTHORS   Morale MG, Tamura RE, Cintra R, Araujo NM and Villa LL.
  TITLE     TLR4 and SARM1 modulate survival and chemoresistance in an
            HPV-positive cervical cancer cell line
  JOURNAL   Sci Rep 12 (1), 6714 (2022)
   PUBMED   35468924
  REMARK    GeneRIF: TLR4 and SARM1 modulate survival and chemoresistance in an
            HPV-positive cervical cancer cell line.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 724)
  AUTHORS   Lu Q, Botchway BOA, Zhang Y, Jin T and Liu X.
  TITLE     SARM1 can be a potential therapeutic target for spinal cord injury
  JOURNAL   Cell Mol Life Sci 79 (3), 161 (2022)
   PUBMED   35224705
  REMARK    GeneRIF: SARM1 can be a potential therapeutic target for spinal
            cord injury.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 724)
  AUTHORS   Bloom AJ, Mao X, Strickland A, Sasaki Y, Milbrandt J and DiAntonio
            A.
  TITLE     Constitutively active SARM1 variants that induce neuropathy are
            enriched in ALS patients
  JOURNAL   Mol Neurodegener 17 (1), 1 (2022)
   PUBMED   34991663
  REMARK    GeneRIF: Constitutively active SARM1 variants that induce
            neuropathy are enriched in ALS patients.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 724)
  AUTHORS   Ulrichts P, Peelman F, Beyaert R and Tavernier J.
  TITLE     MAPPIT analysis of TLR adaptor complexes
  JOURNAL   FEBS Lett 581 (4), 629-636 (2007)
   PUBMED   17258210
REFERENCE   7  (residues 1 to 724)
  AUTHORS   Carty M, Goodbody R, Schroder M, Stack J, Moynagh PN and Bowie AG.
  TITLE     The human adaptor SARM negatively regulates adaptor protein
            TRIF-dependent Toll-like receptor signaling
  JOURNAL   Nat Immunol 7 (10), 1074-1081 (2006)
   PUBMED   16964262
  REMARK    GeneRIF: TIR adaptor SARM is a negative regulator of Toll-like
            receptor signaling.
REFERENCE   8  (residues 1 to 724)
  AUTHORS   Mink,M. and Csiszar,K.
  TITLE     SARM1: A candidate gene in the onset of hereditary
            infectious/inflammatory diseases
  JOURNAL   Clin Immunol 115 (3), 333-334 (2005)
   PUBMED   15893701
  REMARK    GeneRIF: Candidate gene in the onset of hereditary
            infectious/inflammatory diseases.
REFERENCE   9  (residues 1 to 724)
  AUTHORS   Liberati NT, Fitzgerald KA, Kim DH, Feinbaum R, Golenbock DT and
            Ausubel FM.
  TITLE     Requirement for a conserved Toll/interleukin-1 resistance domain
            protein in the Caenorhabditis elegans immune response
  JOURNAL   Proc Natl Acad Sci U S A 101 (17), 6593-6598 (2004)
   PUBMED   15123841
REFERENCE   10 (residues 1 to 724)
  AUTHORS   Mink M, Fogelgren B, Olszewski K, Maroy P and Csiszar K.
  TITLE     A novel human gene (SARM) at chromosome 17q11 encodes a protein
            with a SAM motif and structural similarity to
            Armadillo/beta-catenin that is conserved in mouse, Drosophila, and
            Caenorhabditis elegans
  JOURNAL   Genomics 74 (2), 234-244 (2001)
   PUBMED   11386760
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK314609.1, BC122860.1, AB011096.1, BC040429.1, BG820141.1 and
            AC015917.30.
            On Jul 27, 2007 this sequence version replaced NP_055892.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ290445.1, AB011096.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000585482.6/ ENSP00000468032.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..724
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     Protein         1..724
                     /product="NAD(+) hydrolase SARM1 precursor"
                     /EC_number="3.2.2.6"
                     /note="sterile alpha and HEAT/Armadillo motif protein,
                     ortholog of Drosophila; sterile alpha and TIR
                     motif-containing protein 1; tir-1 homolog; SAM
                     domain-containing protein 2; sterile alpha and Armadillo
                     repeat protein; sterile alpha motif domain-containing
                     protein 2; NADase SARM1; NADP(+) hydrolase SARM1; NAD(+)
                     hydrolase SARM1"
                     /calculated_mol_wt=76378
     transit_peptide 1..27
                     /note="Mitochondrion.
                     /evidence=ECO:0000269|PubMed:22145856; propagated from
                     UniProtKB/Swiss-Prot (Q6SZW1.1)"
                     /calculated_mol_wt=3029
     sig_peptide     1..15
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1771
     Region          60..100
                     /region_name="ARM 1. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6SZW1.1)"
     Region          114..153
                     /region_name="ARM 2. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6SZW1.1)"
     Region          155..193
                     /region_name="ARM 3. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6SZW1.1)"
     Region          196..235
                     /region_name="ARM 4. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6SZW1.1)"
     Region          237..280
                     /region_name="ARM 5. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6SZW1.1)"
     Region          281..314
                     /region_name="ARM 6. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6SZW1.1)"
     Region          315..354
                     /region_name="ARM 7. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6SZW1.1)"
     Region          359..402
                     /region_name="ARM 8. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6SZW1.1)"
     Region          409..477
                     /region_name="SAM_SARM1-like_repeat1"
                     /note="SAM domain ot SARM1-like proteins, repeat 1;
                     cd09501"
                     /db_xref="CDD:188900"
     Region          478..547
                     /region_name="SAM_SARM1-like_repeat2"
                     /note="SAM domain of SARM1-like, repeat 2; cd09502"
                     /db_xref="CDD:188901"
     Site            548
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:30333228; propagated from
                     UniProtKB/Swiss-Prot (Q6SZW1.1)"
     Site            558
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6PDS3; propagated from
                     UniProtKB/Swiss-Prot (Q6SZW1.1)"
     Region          561..702
                     /region_name="TIR"
                     /note="Toll - interleukin 1 - resistance; smart00255"
                     /db_xref="CDD:214587"
     Region          704..724
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6SZW1.1)"
     CDS             1..724
                     /gene="SARM1"
                     /gene_synonym="hSARM1; HsTIR; MyD88-5; SAMD2; SARM"
                     /coded_by="NM_015077.4:340..2514"
                     /db_xref="CCDS:CCDS11230.2"
                     /db_xref="GeneID:23098"
                     /db_xref="HGNC:HGNC:17074"
                     /db_xref="MIM:607732"
ORIGIN      
        1 mvltlllsay klcrffamsg prpgaerlav pgpdggggtg pwwaaggrgp revspgagte
       61 vqdaleralp elqqalsalk qaggaravga glaevfqlve eawllpavgr evaqglcdai
      121 rldggldlll rllqapelet rvqaarlleq ilvaenrdrv ariglgviln lakerepvel
      181 arsvagileh mfkhseetcq rlvaagglda vlywcrrtdp allrhcalal gncalhggqa
      241 vqrrmvekra aewlfplafs kedellrlha clavavlatn keverevers gtlalveplv
      301 asldpgrfar clvdasdtsq grgpddlqrl vplldsnrle aqcigafylc aeaaikslqg
      361 ktkvfsdiga iqslkrlvsy stngtksala kralrllgee vprpilpsvp swkeaevqtw
      421 lqqigfskyc esfreqqvdg dlllrlteee lqtdlgmksg itrkrffrel telktfanys
      481 tcdrsnladw lgsldprfrq ytyglvscgl drsllhrvse qqlledcgih lgvhrarilt
      541 aaremlhspl pctggkpsgd tpdvfisyrr nsgsqlasll kvhlqlhgfs vfidveklea
      601 gkfedkliqs vmgarnfvlv lspgaldkcm qdhdckdwvh keivtalscg knivpiidgf
      661 ewpepqvlpe dmqavltfng ikwsheyqea tiekiirflq grssrdssag sdtslegaap
      721 mgpt
//
LOCUS       NP_001284597             239 aa            linear   PRI 26-DEC-2022
DEFINITION  ecto-ADP-ribosyltransferase 5 isoform b precursor [Homo sapiens].
ACCESSION   NP_001284597 XP_005252838
VERSION     NP_001284597.1
DBSOURCE    REFSEQ: accession NM_001297668.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 239)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   2  (residues 1 to 239)
  AUTHORS   Glowacki G, Braren R, Firner K, Nissen M, Kuhl M, Reche P, Bazan F,
            Cetkovic-Cvrlje M, Leiter E, Haag F and Koch-Nolte F.
  TITLE     The family of toxin-related ecto-ADP-ribosyltransferases in humans
            and the mouse
  JOURNAL   Protein Sci 11 (7), 1657-1670 (2002)
   PUBMED   12070318
REFERENCE   3  (residues 1 to 239)
  AUTHORS   Glowacki G, Braren R, Cetkovic-Cvrlje M, Leiter EH, Haag F and
            Koch-Nolte F.
  TITLE     Structure, chromosomal localization, and expression of the gene for
            mouse ecto-mono(ADP-ribosyl)transferase ART5
  JOURNAL   Gene 275 (2), 267-277 (2001)
   PUBMED   11587854
REFERENCE   4  (residues 1 to 239)
  AUTHORS   Okazaki IJ and Moss J.
  TITLE     Characterization of glycosylphosphatidylinositiol-anchored,
            secreted, and intracellular vertebrate mono-ADP-ribosyltransferases
  JOURNAL   Annu Rev Nutr 19, 485-509 (1999)
   PUBMED   10448534
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC060812.15 and AY358466.1.
            On Jul 10, 2014 this sequence version replaced XP_005252838.1.
            
            Summary: The protein encoded by this gene belongs to the
            ARG-specific ADP-ribosyltransferase family. Proteins in this family
            regulate the function of target proteins by attaching ADP-ribose to
            specific amino acid residues in their target proteins. The mouse
            homolog lacks a glycosylphosphatidylinositol-anchor signal sequence
            and is predicted to be a secretory enzyme. Several transcripts
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (3) uses an alternate in-frame
            splice junction at the 3' end of an exon and an alternate splice
            junction at the 5' end of the last exon compared to variant 1. The
            resulting isoform (b) lacks an alternate internal segment and has a
            longer and distinct C-terminus compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY358466.1, ERR3218376.690648.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145245, SAMEA2155371
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..239
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..239
                     /product="ecto-ADP-ribosyltransferase 5 isoform b
                     precursor"
                     /EC_number="2.4.2.31"
                     /note="mono(ADP-ribosyl)transferase 5; NAD(P)(+)--arginine
                     ADP-ribosyltransferase 5; ADP-ribosyltransferase C2 and C3
                     toxin-like 5; ecto-ADP-ribosyltransferase 5"
                     /calculated_mol_wt=23713
     sig_peptide     1..22
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2268
     mat_peptide     23..239
                     /product="ecto-ADP-ribosyltransferase 5 isoform b"
                     /calculated_mol_wt=23713
     Region          28..>196
                     /region_name="VIP2"
                     /note="A family of actin-ADP-ribosylating toxin. A member
                     of the Bacillus-prodiced vegetative insecticidal proteins
                     (VIPs) possesses high specificity against the major insect
                     pest, corn rootworms, and belongs to a classs of binary
                     toxins and regulators of...; cl00173"
                     /db_xref="CDD:444726"
     CDS             1..239
                     /gene="ART5"
                     /gene_synonym="ARTC5"
                     /coded_by="NM_001297668.2:131..850"
                     /note="isoform b precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS73242.1"
                     /db_xref="GeneID:116969"
                     /db_xref="HGNC:HGNC:24049"
                     /db_xref="MIM:610625"
ORIGIN      
        1 malaalmial gslglhtwqa qavpilplgl apdtfddtyv gcaeemeeka apllkeemah
       61 hallreswea aqetwedkrr gltlppgfka qngiaimvyt nssntlywel nqavrtgggs
      121 relymrhfpf kalhfylira lqllrgsggc srgpgevvfr gvgslrfepk rlgdsvrlgq
      181 fasssldkav ahrfgekrrg cvsapgvqlg sqsegasslp pwktlllapg efqlsgvgp
//
LOCUS       NP_001339048             469 aa            linear   PRI 26-DEC-2022
DEFINITION  vezatin isoform u [Homo sapiens].
ACCESSION   NP_001339048 XP_016875094
VERSION     NP_001339048.1
DBSOURCE    REFSEQ: accession NM_001352119.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 469)
  AUTHORS   Wang Y, Yuan J, Yu X, Liu X, Tan C, Chen Y and Xu T.
  TITLE     Vezatin regulates seizures by controlling AMPAR-mediated synaptic
            activity
  JOURNAL   Cell Death Dis 12 (10), 936 (2021)
   PUBMED   34642320
  REMARK    GeneRIF: Vezatin regulates seizures by controlling AMPAR-mediated
            synaptic activity.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 469)
  AUTHORS   Matalliotakis M, Zervou MI, Matalliotaki C, Rahmioglu N,
            Koumantakis G, Kalogiannidis I, Prapas I, Zondervan K, Spandidos
            DA, Matalliotakis I and Goulielmos GN.
  TITLE     The role of gene polymorphisms in endometriosis
  JOURNAL   Mol Med Rep 16 (5), 5881-5886 (2017)
   PUBMED   28901453
  REMARK    GeneRIF: We found a genetic association between rs11031006 (FSHB)
            SNP and endometriosis. WNT4 and VEZT genes constitute the most
            consistently associated genes with endometriosis. In the present
            study, an association of rs7521902 (WNT4) and rs10859871 (VEZT) was
            confirmed in women with endometriosis at the genotypic but not the
            allelic level.
REFERENCE   3  (residues 1 to 469)
  AUTHORS   Xie D, Shang L, Peng L and Li L.
  TITLE     Up-regulation of VEZT by small activating RNA inhibits the
            proliferation, invasion and migration of gastric cancer cells
  JOURNAL   Biochem Biophys Res Commun 482 (4), 542-548 (2017)
   PUBMED   27856244
  REMARK    GeneRIF: This study identified the most effective small activating
            RNA via real-time PCR and Western blot. The selected small
            activating RNA inhibited the growth, invasion and migration of
            gastric cancer cells by specially reactivating VEZT.
REFERENCE   4  (residues 1 to 469)
  AUTHORS   Pagliardini L, Gentilini D, Sanchez AM, Candiani M, Vigano P and Di
            Blasio AM.
  TITLE     Replication and meta-analysis of previous genome-wide association
            studies confirm vezatin as the locus with the strongest evidence
            for association with endometriosis
  JOURNAL   Hum Reprod 30 (4), 987-993 (2015)
   PUBMED   25678572
  REMARK    GeneRIF: vezatin and nearby SNP rs10859871 may have a role in
            endometriosis [meta-analysis]
REFERENCE   5  (residues 1 to 469)
  AUTHORS   Li,Y.S., Chen,Y.Z., Guo,X.B., Liu,X. and Li,L.P.
  TITLE     VEZT as a novel independent prognostic factor in gastric cancer
  JOURNAL   Cancer Biomark 15 (4), 375-380 (2015)
   PUBMED   25792470
  REMARK    GeneRIF: VEZT expression levels can be considered as a biomarker
            for gastric cancer progression, lymphatic metastasis and as a novel
            independent prognostic factor.
REFERENCE   6  (residues 1 to 469)
  AUTHORS   Nyholt DR, Low SK, Anderson CA, Painter JN, Uno S, Morris AP,
            MacGregor S, Gordon SD, Henders AK, Martin NG, Attia J, Holliday
            EG, McEvoy M, Scott RJ, Kennedy SH, Treloar SA, Missmer SA, Adachi
            S, Tanaka K, Nakamura Y, Zondervan KT, Zembutsu H and Montgomery
            GW.
  TITLE     Genome-wide association meta-analysis identifies new endometriosis
            risk loci
  JOURNAL   Nat Genet 44 (12), 1355-1359 (2012)
   PUBMED   23104006
REFERENCE   7  (residues 1 to 469)
  AUTHORS   Guo X, Jing C, Li L, Zhang L, Shi Y, Wang J, Liu J and Li C.
  TITLE     Down-regulation of VEZT gene expression in human gastric cancer
            involves promoter methylation and miR-43c
  JOURNAL   Biochem Biophys Res Commun 404 (2), 622-627 (2011)
   PUBMED   21156161
  REMARK    GeneRIF: miR-43c directly targets adherens junctions' transmembrane
            protein (VEZT) and suppresses VEZT protein expression.
REFERENCE   8  (residues 1 to 469)
  AUTHORS   Hyenne V, Louvet-Vallee S, El-Amraoui A, Petit C, Maro B and
            Simmler MC.
  TITLE     Vezatin, a protein associated to adherens junctions, is required
            for mouse blastocyst morphogenesis
  JOURNAL   Dev Biol 287 (1), 180-191 (2005)
   PUBMED   16199027
  REMARK    GeneRIF: function of mouse vezatin in mouse blastocyst
            morphogenesis
REFERENCE   9  (residues 1 to 469)
  AUTHORS   Blaschuk OW and Rowlands TM.
  TITLE     Plasma membrane components of adherens junctions (Review)
  JOURNAL   Mol Membr Biol 19 (2), 75-80 (2002)
   PUBMED   12126233
  REMARK    Review article
REFERENCE   10 (residues 1 to 469)
  AUTHORS   Kussel-Andermann P, El-Amraoui A, Safieddine S, Nouaille S,
            Perfettini I, Lecuit M, Cossart P, Wolfrum U and Petit C.
  TITLE     Vezatin, a novel transmembrane protein, bridges myosin VIIA to the
            cadherin-catenins complex
  JOURNAL   EMBO J 19 (22), 6020-6029 (2000)
   PUBMED   11080149
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC127165.4 and AC084879.23.
            On Jun 6, 2017 this sequence version replaced XP_016875094.1.
            
            Summary: This gene encodes a transmembrane protein which has been
            localized to adherens junctions and shown to bind to myosin VIIA.
            Examination of expression of this gene in gastric cancer tissues
            have shown that expression is decreased which appears to be related
            to hypermethylation of the promoter. Expression of this gene may
            also be inhibited by binding of a specific microRNA to a target
            sequence in the 3' UTR of the transcripts. A pseudogene of this
            gene is located on the X chromosome. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, May 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.144723.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..469
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q22"
     Protein         1..469
                     /product="vezatin isoform u"
                     /calculated_mol_wt=53915
     Region          2..290
                     /region_name="Vezatin"
                     /note="Mysoin-binding motif of peroxisomes; pfam12632"
                     /db_xref="CDD:432683"
     CDS             1..469
                     /gene="VEZT"
                     /gene_synonym="VEZATIN"
                     /coded_by="NM_001352119.2:223..1632"
                     /note="isoform u is encoded by transcript variant 35"
                     /db_xref="GeneID:55591"
                     /db_xref="HGNC:HGNC:18258"
                     /db_xref="MIM:619749"
ORIGIN      
        1 mlfafisllv mlptwwivss wlvwgvilfv ylviralrlw rtaklqvtlk kysvhledma
       61 tnsraftnlv rkalrliqet evisrgftlv saacpfnkag qhpsqhligl rkavyrtlra
      121 nfqaarlatl ymlknyplns esdnvtnyic vvpfkelglg lseeqiseee ahnftdgfsl
      181 palkvlfqlw vaqsseffrr lalllstans ppgplltpal lphrilsdvt qglphahsac
      241 leelkrsyef yryfetqhqs vpqclsktqq ksrelnnvht avrslqlhlk allneviile
      301 deleklvctk etqelvseay pileqklkli qphvqasnnc weeaisqvdk llrrntdkkg
      361 kpeiacenph ctvvplkqpt lhiadkdpip eeqeleayvd dididsdfrk ddfyylsqed
      421 kerqkrehee skrvlqelks vlgfkaseae rqkwkqllfs dhgvksawn
//
LOCUS       NP_001362859             304 aa            linear   PRI 27-DEC-2022
DEFINITION  PTB domain-containing engulfment adapter protein 1 isoform a [Homo
            sapiens].
ACCESSION   NP_001362859
VERSION     NP_001362859.1
DBSOURCE    REFSEQ: accession NM_001375930.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 304)
  AUTHORS   Hayashi M, Guida E, Inokawa Y, Goldberg R, Reis LO, Ooki A, Pilli
            M, Sadhukhan P, Woo J, Choi W, Izumchenko E, Gonzalez LM,
            Marchionni L, Zhavoronkov A, Brait M, Bivalacqua T, Baras A, Netto
            GJ, Koch W, Singh A and Hoque MO.
  TITLE     GULP1 regulates the NRF2-KEAP1 signaling axis in urothelial
            carcinoma
  JOURNAL   Sci Signal 13 (645) (2020)
   PUBMED   32817372
  REMARK    GeneRIF: GULP1 regulates the NRF2-KEAP1 signaling axis in
            urothelial carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 304)
  AUTHORS   Chau DD, Yung KW, Chan WW, An Y, Hao Y, Chan HE, Ngo JC and Lau KF.
  TITLE     Attenuation of amyloid-beta generation by atypical protein kinase
            C-mediated phosphorylation of engulfment adaptor PTB domain
            containing 1 threonine 35
  JOURNAL   FASEB J 33 (11), 12019-12035 (2019)
   PUBMED   31373844
  REMARK    GeneRIF: Results indicate that GULP, engulfment adaptor PTB domain
            containing 1 (GULP1) threonine 35 (T35) phosphorylation is a
            mechanism for the regulation of GULP1-amyloid beta precursor
            protein (APP) interaction and thereby APP processing.
REFERENCE   3  (residues 1 to 304)
  AUTHORS   Gong J, Gaitanos TN, Luu O, Huang Y, Gaitanos L, Lindner J,
            Winklbauer R and Klein R.
  TITLE     Gulp1 controls Eph/ephrin trogocytosis and is important for cell
            rearrangements during development
  JOURNAL   J Cell Biol 218 (10), 3455-3471 (2019)
   PUBMED   31409653
  REMARK    GeneRIF: the phagocytic adaptor protein Gulp1 regulates
            EphB/ephrinB trogocytosis to achieve efficient cell rearrangements
            of cultured cells and during embryonic development
REFERENCE   4  (residues 1 to 304)
  AUTHORS   Faralli JA, Desikan H, Peotter J, Kanneganti N, Weinhaus B, Filla
            MS and Peters DM.
  TITLE     Genomic/proteomic analyses of dexamethasone-treated human
            trabecular meshwork cells reveal a role for GULP1 and ABR in
            phagocytosis
  JOURNAL   Mol Vis 25, 237-254 (2019)
   PUBMED   31516309
  REMARK    GeneRIF: The knockdown of GULP1 and ABR using siRNAs decreased
            phagocytosis by 40%.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 304)
  AUTHORS   Maldonado L, Brait M, Izumchenko E, Begum S, Chatterjee A, Sen T,
            Loyo M, Barbosa A, Poeta ML, Makarev E, Zhavoronkov A, Fazio VM,
            Angioli R, Rabitti C, Ongenaert M, Van Criekinge W, Noordhuis MG,
            de Graeff P, Wisman GBA, van der Zee AGJ and Hoque MO.
  TITLE     Integrated transcriptomic and epigenomic analysis of ovarian cancer
            reveals epigenetically silenced GULP1
  JOURNAL   Cancer Lett 433, 242-251 (2018)
   PUBMED   29964205
  REMARK    GeneRIF: GULP1 methylation was associated with clinicopathological
            parameters such as stage III/IV, poorly differentiated grade,
            residual disease, worse overall and disease specific survival in
            ovarian cancer.
REFERENCE   6  (residues 1 to 304)
  AUTHORS   Park SY, Kang KB, Thapa N, Kim SY, Lee SJ and Kim IS.
  TITLE     Requirement of adaptor protein GULP during stabilin-2-mediated cell
            corpse engulfment
  JOURNAL   J Biol Chem 283 (16), 10593-10600 (2008)
   PUBMED   18230608
  REMARK    GeneRIF: GULP is a likely downstream molecule in the
            stabilin-2-mediated signaling pathway and plays an important role
            in stabilin-2-mediated phagocytosis
REFERENCE   7  (residues 1 to 304)
  AUTHORS   Fu GK, Wang JT, Yang J, Au-Young J and Stuve LL.
  TITLE     Circular rapid amplification of cDNA ends for high-throughput
            extension cloning of partial genes
  JOURNAL   Genomics 84 (1), 205-210 (2004)
   PUBMED   15203218
REFERENCE   8  (residues 1 to 304)
  AUTHORS   Su HP, Nakada-Tsukui K, Tosello-Trampont AC, Li Y, Bu G, Henson PM
            and Ravichandran KS.
  TITLE     Interaction of CED-6/GULP, an adapter protein involved in
            engulfment of apoptotic cells with CED-1 and CD91/low density
            lipoprotein receptor-related protein (LRP)
  JOURNAL   J Biol Chem 277 (14), 11772-11779 (2002)
   PUBMED   11729193
  REMARK    GeneRIF: Interaction of CED-6/GULP, an adapter protein involved in
            engulfment of apoptotic cells with CED-1 and CD91/low density
            lipoprotein receptor-related protein (LRP).
REFERENCE   9  (residues 1 to 304)
  AUTHORS   Liu QA and Hengartner MO.
  TITLE     Human CED-6 encodes a functional homologue of the Caenorhabditis
            elegans engulfment protein CED-6
  JOURNAL   Curr Biol 9 (22), 1347-1350 (1999)
   PUBMED   10574771
REFERENCE   10 (residues 1 to 304)
  AUTHORS   Smits E, Van Criekinge W, Plaetinck G and Bogaert T.
  TITLE     The human homologue of Caenorhabditis elegans CED-6 specifically
            promotes phagocytosis of apoptotic cells
  JOURNAL   Curr Biol 9 (22), 1351-1354 (1999)
   PUBMED   10574763
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104131.4, AC108493.6,
            AC125490.5 and AC092598.2.
            
            Summary: The protein encoded by this gene is an adapter protein
            necessary for the engulfment of apoptotic cells by phagocytes.
            Several transcript variants, some protein coding and some thought
            not to be protein coding, have been found for this gene. [provided
            by RefSeq, Nov 2011].
            
            Transcript Variant: This variant (9), as well as variants 1, 4-8,
            and 10, encodes isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.1514934.1,
                                           SRR14038196.2077811.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..304
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.1-q32.2"
     Protein         1..304
                     /product="PTB domain-containing engulfment adapter protein
                     1 isoform a"
                     /note="engulfment adapter protein; PTB domain adaptor
                     protein CED-6; PTB domain-containing engulfment adapter
                     protein 1; GULP, engulfment adaptor PTB domain containing
                     1; cell death protein 6 homolog; PTB domain adapter
                     protein CED-6"
                     /calculated_mol_wt=34359
     Region          14..157
                     /region_name="PTB_CED-6"
                     /note="Cell death protein 6 homolog (CED-6/GULP1)
                     Phosphotyrosine-binding (PTB) domain; cd01273"
                     /db_xref="CDD:269971"
     Site            16
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UBP9.1)"
     Site            order(30,109,129)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269971"
     Site            order(98..103,116,138,142)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269971"
     Region          <163..195
                     /region_name="bZIP"
                     /note="Basic leucine zipper (bZIP) domain of bZIP
                     transcription factors: a DNA-binding and dimerization
                     domain; cd14686"
                     /db_xref="CDD:269834"
     Site            order(165..166,169..170,172..173,176..177,179..180,
                     183..184,186..187,190..191,193..194)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:269834"
     Region          223..246
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBP9.1)"
     Site            223
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336; propagated from
                     UniProtKB/Swiss-Prot (Q9UBP9.1)"
     CDS             1..304
                     /gene="GULP1"
                     /gene_synonym="CED-6; CED6; GULP"
                     /coded_by="NM_001375930.1:518..1432"
                     /note="isoform a is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS2295.1"
                     /db_xref="GeneID:51454"
                     /db_xref="HGNC:HGNC:18649"
                     /db_xref="MIM:608165"
ORIGIN      
        1 mnrafsrkkd ktwmhtpeal skhfipynak flgsteveqp kgtevvrdav rklkfarhik
       61 ksegqkipkv elqisiygvk ilepktkevq hncqlhrisf caddktdkri ftfickdses
      121 nkhlcyvfds ekcaeeitlt igqafdlayr kflesggkdv etrkqiaglq kriqdleten
      181 melknkvqdl enqlritqvs appagsmtpk spstdifdmi pfspishqss mptrngtqpp
      241 pvpsrsteik rdlfgaepfd pfncgaadfp pdiqskldem qegfkmgltl egtvfcldpl
      301 dsrc
//
LOCUS       NP_005290                319 aa            linear   PRI 27-DEC-2022
DEFINITION  12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor [Homo
            sapiens].
ACCESSION   NP_005290
VERSION     NP_005290.2
DBSOURCE    REFSEQ: accession NM_005299.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 319)
  AUTHORS   Forch A, Wallner S, Zeman F, Ettl T, Brochhausen C and Schreml S.
  TITLE     Expression of Proton-Sensitive GPR31, GPR151, TASK1 and TASK3 in
            Common Skin Tumors
  JOURNAL   Cells 11 (1), 27 (2021)
   PUBMED   35011589
  REMARK    GeneRIF: Expression of Proton-Sensitive GPR31, GPR151, TASK1 and
            TASK3 in Common Skin Tumors.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 319)
  AUTHORS   Cartwright IM, Dowdell AS, Lanis JM, Brink KR, Mu A, Kostelecky RE,
            Schaefer REM, Welch N, Onyiah JC, Hall CHT, Gerich ME, Tabor JJ and
            Colgan SP.
  TITLE     Mucosal acidosis elicits a unique molecular signature in epithelia
            and intestinal tissue mediated by GPR31-induced CREB
            phosphorylation
  JOURNAL   Proc Natl Acad Sci U S A 118 (20) (2021)
   PUBMED   33972436
  REMARK    GeneRIF: Mucosal acidosis elicits a unique molecular signature in
            epithelia and intestinal tissue mediated by GPR31-induced CREB
            phosphorylation.
REFERENCE   3  (residues 1 to 319)
  AUTHORS   Mendioroz M, Puebla-Guedea M, Montero-Marin J, Urdanoz-Casado A,
            Blanco-Luquin I, Roldan M, Labarga A and Garcia-Campayo J.
  TITLE     Telomere length correlates with subtelomeric DNA methylation in
            long-term mindfulness practitioners
  JOURNAL   Sci Rep 10 (1), 4564 (2020)
   PUBMED   32165663
  REMARK    GeneRIF: Telomere length correlates with subtelomeric DNA
            methylation in long-term mindfulness practitioners.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 319)
  AUTHORS   Mashiko M, Kurosawa A, Tani Y, Tsuji T and Takeda S.
  TITLE     GPR31 and GPR151 are activated under acidic conditions
  JOURNAL   J Biochem (2019) In press
   PUBMED   31119277
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   5  (residues 1 to 319)
  AUTHORS   Rong YM, Huang XM, Fan DJ, Lin XT, Zhang F, Hu JC, Tan YX, Chen X,
            Zou YF and Lan P.
  TITLE     Overexpression of G protein-coupled receptor 31 as a poor
            prognosticator in human colorectal cancer
  JOURNAL   World J Gastroenterol 24 (41), 4679-4690 (2018)
   PUBMED   30416315
  REMARK    GeneRIF: High GPR31 expression levels were found to be correlated
            with pM classification of colorectal cancer (CRC) and to serve as
            an independent predictive factor of poor survival of CRC patients.
REFERENCE   6  (residues 1 to 319)
  AUTHORS   Honn KV, Guo Y, Cai Y, Lee MJ, Dyson G, Zhang W and Tucker SC.
  TITLE     12-HETER1/GPR31, a high-affinity 12(S)-hydroxyeicosatetraenoic acid
            receptor, is significantly up-regulated in prostate cancer and
            plays a critical role in prostate cancer progression
  JOURNAL   FASEB J 30 (6), 2360-2369 (2016)
   PUBMED   26965684
  REMARK    GeneRIF: The data implicate 12-HETER1 in a critical new role in the
            regulation of prostate cancer progression and offer a novel
            alternative target for therapeutic intervention.
REFERENCE   7  (residues 1 to 319)
  AUTHORS   Jones RM, Cadby G, Melton PE, Abraham LJ, Whitehouse AJ and Moses
            EK.
  TITLE     Genome-wide association study of autistic-like traits in a general
            population study of young adults
  JOURNAL   Front Hum Neurosci 7, 658 (2013)
   PUBMED   24133439
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 319)
  AUTHORS   Guo Y, Zhang W, Giroux C, Cai Y, Ekambaram P, Dilly AK, Hsu A, Zhou
            S, Maddipati KR, Liu J, Joshi S, Tucker SC, Lee MJ and Honn KV.
  TITLE     Identification of the orphan G protein-coupled receptor GPR31 as a
            receptor for 12-(S)-hydroxyeicosatetraenoic acid
  JOURNAL   J Biol Chem 286 (39), 33832-33840 (2011)
   PUBMED   21712392
  REMARK    GeneRIF: 12-HETER represents the first identified high affinity
            receptor for the 12-(S)-HETE hydroxyl fatty acids.
REFERENCE   9  (residues 1 to 319)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD,
            Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker
            DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP,
            Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY,
            Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman
            LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M,
            Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD,
            Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ,
            Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S,
            Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL,
            Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL,
            Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson
            CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK,
            Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR,
            Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M,
            Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A,
            Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K,
            Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore
            B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM,
            Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith
            M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G,
            Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A,
            Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL,
            Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt
            JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard
            T, Sulston JE, Dunham I, Rogers J and Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   10 (residues 1 to 319)
  AUTHORS   Zingoni A, Rocchi M, Storlazzi CT, Bernardini G, Santoni A and
            Napolitano M.
  TITLE     Isolation and chromosomal localization of GPR31, a human gene
            encoding a putative G protein-coupled receptor
  JOURNAL   Genomics 42 (3), 519-523 (1997)
   PUBMED   9205127
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL121935.17.
            On Jul 25, 2007 this sequence version replaced NP_005290.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC095537.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366834.2/ ENSP00000355799.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q27"
     Protein         1..319
                     /product="12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid
                     receptor"
                     /note="probable G-protein coupled receptor 31; bA517H2.2
                     (G protein-coupled receptor 31);
                     12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid (HETE)
                     receptor; 12-(S)-HETE acid receptor;
                     hydroxyeicosatetraenoic (HETE) acid receptor 1;
                     12-(S)-HETE receptor; GPR31/12-HETER"
                     /calculated_mol_wt=34944
     Site            5
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O00270.2)"
     Site            17..37
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00270.2)"
     Region          32..293
                     /region_name="7tmA_GPR31"
                     /note="G protein-coupled receptor 31, member of the class
                     A family of seven-transmembrane G protein-coupled
                     receptors; cd15199"
                     /db_xref="CDD:320327"
     Region          49..74
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320327"
     Site            53..73
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00270.2)"
     Site            order(70,73..74,87..92,94..95,98,143,145..149,174,
                     177..179,181..183,185..186,235,238..239,241..242,245,
                     260..261,263..265,268,271..272)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320327"
     Region          87..117
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320327"
     Site            92..110
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00270.2)"
     Region          129..151
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320327"
     Site            132..152
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00270.2)"
     Region          174..203
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320327"
     Site            181..201
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00270.2)"
     Region          215..245
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320327"
     Site            220..240
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00270.2)"
     Region          261..286
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320327"
     Site            266..284
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00270.2)"
     CDS             1..319
                     /gene="GPR31"
                     /gene_synonym="12-HETER; HETER; HETER1"
                     /coded_by="NM_005299.3:150..1109"
                     /db_xref="CCDS:CCDS5299.1"
                     /db_xref="GeneID:2853"
                     /db_xref="HGNC:HGNC:4486"
                     /db_xref="MIM:602043"
ORIGIN      
        1 mpfpncsaps tvvatavgvl lglecglgll gnavalwtfl frvrvwkpya vyllnlalad
       61 lllaaclpfl aafylslqaw hlgrvgcwal hflldlsrsv gmaflaaval drylrvvhpr
      121 lkvnllspqa algvsglvwl lmvaltcpgl liseaaqnst rchsfysrad gsfsiiwqea
      181 lsclqfvlpf glivfcnagi iralqkrlre pekqpklqra qalvtlvvvl falcflpcfl
      241 arvlmhifqn lgscralcav ahtsdvtgsl tylhsvlnpv vycfssptfr ssyrrvfhtl
      301 rgkgqaaepp dfnprdsys
//
LOCUS       NP_001157397             370 aa            linear   PRI 29-DEC-2022
DEFINITION  leucine-rich repeat and transmembrane domain-containing protein 2
            precursor [Homo sapiens].
ACCESSION   NP_001157397
VERSION     NP_001157397.1
DBSOURCE    REFSEQ: accession NM_001163925.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 370)
  AUTHORS   McGue M, Zhang Y, Miller MB, Basu S, Vrieze S, Hicks B, Malone S,
            Oetting WS and Iacono WG.
  TITLE     A genome-wide association study of behavioral disinhibition
  JOURNAL   Behav Genet 43 (5), 363-373 (2013)
   PUBMED   23942779
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA336140.1, AK124687.1, AK095610.1, BC036868.1, BX115405.1 and
            AC005343.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1-3 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK124687.1, SRR1803612.276644.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2145743,
                                           SAMEA2148874 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..370
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.33"
     Protein         1..370
                     /product="leucine-rich repeat and transmembrane
                     domain-containing protein 2 precursor"
                     /note="leucine-rich repeat and transmembrane
                     domain-containing protein 2"
                     /calculated_mol_wt=37259
     sig_peptide     1..35
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N967.1)"
                     /calculated_mol_wt=3917
     Region          <51..200
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:227223"
     Region          51..72
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          69..90
                     /region_name="LRR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1)"
     Region          73..93
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Site            90
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N967.1)"
     Region          92..152
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          93..114
                     /region_name="LRR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1)"
     Region          94..117
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          117..139
                     /region_name="LRR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1)"
     Site            117
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N967.1)"
     Region          118..141
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Site            125
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N967.1)"
     Region          141..162
                     /region_name="LRR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1)"
     Region          142..165
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          165..186
                     /region_name="LRR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1)"
     Region          166..189
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          174..>261
                     /region_name="PCC"
                     /note="polycystin cation channel protein; TIGR00864"
                     /db_xref="CDD:188093"
     Site            257
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N967.1)"
     Region          261..300
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1)"
     Region          <265..335
                     /region_name="PHA03264"
                     /note="envelope glycoprotein D; Provisional"
                     /db_xref="CDD:223029"
     Site            311..331
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1)"
     Region          351..370
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1)"
     CDS             1..370
                     /gene="LRTM2"
                     /coded_by="NM_001163925.2:545..1657"
                     /db_xref="CCDS:CCDS31726.1"
                     /db_xref="GeneID:654429"
                     /db_xref="HGNC:HGNC:32443"
ORIGIN      
        1 mlapgsspgq rgrlalqwrq vswitcwial yavealptcp fsckcdsrsl evdcsglglt
       61 tvppdvpaat rtllllnnkl salpswafan lsslqrldls nnfldrlprs ifgdltnlte
      121 lqlrnnsirt ldrdllrhsp llrhldlsin glaqlppglf dgllalrsls lrsnrlqnld
      181 rltfeplanl qllqvgdnpw ecdcnlrefk hwmewfsyrg grldqlactl pkelrgkdmr
      241 mvpmemfnyc sqledenssa gldipgppct kaspepakpk pgaepepeps tacpqkqrhr
      301 pasvrramgt viiagvvcgv vcimmvvaaa ygciyaslma kyhrelkkrq plmgdpegeh
      361 edqkqissva
//
LOCUS       NP_001365475             766 aa            linear   PRI 29-DEC-2022
DEFINITION  V-type proton ATPase 116 kDa subunit a 1 isoform 22 [Homo sapiens].
ACCESSION   NP_001365475
VERSION     NP_001365475.1
DBSOURCE    REFSEQ: accession NM_001378546.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 766)
  AUTHORS   Yamazaki Y, Eura Y and Kokame K.
  TITLE     V-ATPase V0a1 promotes Weibel-Palade body biogenesis through the
            regulation of membrane fission
  JOURNAL   Elife 10, e71526 (2021)
   PUBMED   34904569
  REMARK    GeneRIF: V-ATPase V0a1 promotes Weibel-Palade body biogenesis
            through the regulation of membrane fission.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 766)
  AUTHORS   Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama
            J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R,
            Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A,
            Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N and Saitsu
            H.
  TITLE     ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar
            H+-ATPases is essential for brain development in humans and mice
  JOURNAL   Nat Commun 12 (1), 2107 (2021)
   PUBMED   33833240
  REMARK    GeneRIF: ATP6V0A1 encoding the a1-subunit of the V0 domain of
            vacuolar H(+)-ATPases is essential for brain development in humans
            and mice.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 766)
  AUTHORS   Wang L, Wu D, Robinson CV, Wu H and Fu TM.
  TITLE     Structures of a Complete Human V-ATPase Reveal Mechanisms of Its
            Assembly
  JOURNAL   Mol Cell 80 (3), 501-511 (2020)
   PUBMED   33065002
REFERENCE   4  (residues 1 to 766)
  AUTHORS   Vasanthakumar T and Rubinstein JL.
  TITLE     Structure and Roles of V-type ATPases
  JOURNAL   Trends Biochem Sci 45 (4), 295-307 (2020)
   PUBMED   32001091
  REMARK    Review article
REFERENCE   5  (residues 1 to 766)
  AUTHORS   Brisson L, Banski P, Sboarina M, Dethier C, Danhier P, Fontenille
            MJ, Van Hee VF, Vazeille T, Tardy M, Falces J, Bouzin C, Porporato
            PE, Frederick R, Michiels C, Copetti T and Sonveaux P.
  TITLE     Lactate Dehydrogenase B Controls Lysosome Activity and Autophagy in
            Cancer
  JOURNAL   Cancer Cell 30 (3), 418-431 (2016)
   PUBMED   27622334
REFERENCE   6  (residues 1 to 766)
  AUTHORS   Finbow ME and Harrison MA.
  TITLE     The vacuolar H+-ATPase: a universal proton pump of eukaryotes
  JOURNAL   Biochem J 324 (Pt 3) (Pt 3), 697-712 (1997)
   PUBMED   9210392
  REMARK    Review article
REFERENCE   7  (residues 1 to 766)
  AUTHORS   Stevens TH and Forgac M.
  TITLE     Structure, function and regulation of the vacuolar (H+)-ATPase
  JOURNAL   Annu Rev Cell Dev Biol 13, 779-808 (1997)
   PUBMED   9442887
  REMARK    Review article
REFERENCE   8  (residues 1 to 766)
  AUTHORS   Andresson T, Sparkowski J, Goldstein DJ and Schlegel R.
  TITLE     Vacuolar H(+)-ATPase mutants transform cells and define a binding
            site for the papillomavirus E5 oncoprotein
  JOURNAL   J Biol Chem 270 (12), 6830-6837 (1995)
   PUBMED   7896830
REFERENCE   9  (residues 1 to 766)
  AUTHORS   Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G, Ho
            PP, Merajver S, Chandrasekharappa SC, Xu J et al.
  TITLE     Construction of a transcription map surrounding the BRCA1 locus of
            human chromosome 17
  JOURNAL   Genomics 25 (1), 238-247 (1995)
   PUBMED   7774924
REFERENCE   10 (residues 1 to 766)
  AUTHORS   Dautry-Varsat,A.
  TITLE     Receptor-mediated endocytosis: the intracellular journey of
            transferrin and its receptor
  JOURNAL   Biochimie 68 (3), 375-381 (1986)
   PUBMED   2874839
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC107993.9 and AC067852.23.
            
            Summary: This gene encodes a component of vacuolar ATPase
            (V-ATPase), a multisubunit enzyme that mediates acidification of
            eukaryotic intracellular organelles. V-ATPase dependent organelle
            acidification is necessary for such intracellular processes as
            protein sorting, zymogen activation, receptor-mediated endocytosis,
            and synaptic vesicle proton gradient generation. V-ATPase is
            composed of a cytosolic V1 domain and a transmembrane V0 domain.
            The V1 domain consists of three A and three B subunits, two G
            subunits plus the C, D, E, F, and H subunits. The V1 domain
            contains the ATP catalytic site. The V0 domain consists of five
            different subunits: a, c, c', c', and d. Additional isoforms of
            many of the V1 and V0 subunit proteins are encoded by multiple
            genes or alternatively spliced transcript variants. This gene
            encodes one of three A subunit proteins and the encoded protein is
            associated with clathrin-coated vesicles. Three transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMN03465401,
                              SAMN03465404 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..766
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     Protein         1..766
                     /product="V-type proton ATPase 116 kDa subunit a 1 isoform
                     22"
                     /EC_number="7.1.2.2"
                     /note="clathrin-coated vesicle/synaptic vesicle proton
                     pump 116 kDa subunit; vacuolar proton translocating ATPase
                     116 kDa subunit A; H(+)-transporting two-sector ATPase,
                     116 kDa accessory protein A1; V-ATPase 116 kDa subunit a1;
                     V-ATPase subunit a1; ATPase, H+ transporting, lysosomal
                     non-catalytic accessory protein 1 (110/116kD);
                     vacuolar-type H(+)-ATPase 115 kDa subunit; V-type proton
                     ATPase 116 kDa subunit a; vacuolar proton pump subunit 1;
                     vacuolar adenosine triphosphatase subunit Ac116; ATPase,
                     H+ transporting, lysosomal V0 subunit a1; V-type proton
                     ATPase 116 kDa subunit a1; V-ATPase 116 kDa subunit a 1;
                     V-type proton ATPase 116 kDa subunit a 1"
                     /calculated_mol_wt=88005
     Region          28..756
                     /region_name="V_ATPase_I"
                     /note="V-type ATPase 116kDa subunit family; pfam01496"
                     /db_xref="CDD:426290"
     Site            250
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z1G4; propagated from
                     UniProtKB/Swiss-Prot (Q93050.3)"
     CDS             1..766
                     /gene="ATP6V0A1"
                     /gene_synonym="a1; ATP6N1; ATP6N1A; DEE104; NEDEBA; Stv1;
                     Vph1; VPP1"
                     /coded_by="NM_001378546.1:134..2434"
                     /note="isoform 22 is encoded by transcript variant 22"
                     /db_xref="GeneID:535"
                     /db_xref="HGNC:HGNC:865"
                     /db_xref="MIM:192130"
ORIGIN      
        1 mgelfrseem tlaqlflqse aayccvselg elgkvqfrdl npdvnvfqrk fvnevrrcee
       61 mdrklrfvek eirkanipim dtgenpevpf prdmidlean fekienelke intnqealkr
      121 nfleltelkf ilrktqqffd emadpdllee sssllepsem grgtplrlgf vagvinreri
      181 ptfermlwrv crgnvflrqa eienpledpv tgdyvhksvf iiffqgdqlk nrvkkicegf
      241 raslypcpet pqerkemasg vntriddlqm ehsgstvpsi lnrmqtnqtp ptynktnkft
      301 ygfqnivday gigtyreinp apytiitfpf lfavmfgdfg hgilmtlfav wmvlresril
      361 sqknenemfs tvfsgryiil lmgvfsmytg liyndcfsks lnifgsswsv rpmftynwte
      421 etlrgnpvlq lnpalpgvfg gpypfgidpi wniatnkltf lnsfkmkmsv ilgiihmlfg
      481 vslslfnhiy fkkplniyfg fipeiifmts lfgylvilif ykwtaydaht senapsllih
      541 finmflfsyp esgysmlysg qkgiqcflvv vallcvpwml lfkplvlrrq ylrrkhlgtl
      601 nfggirvgng pteedaeiiq hdqlsthsed adepsedevf dfgdtmvhqa ihtieyclgc
      661 isntasylrl walslahaql sevlwtmvih iglsvkslag glvlffffta fatltvaill
      721 imeglsaflh alrlhwvefq nkfysgtgfk flpfsfehir egkfee
//
LOCUS       NP_001372892             973 aa            linear   PRI 29-DEC-2022
DEFINITION  pleckstrin homology domain-containing family A member 5 isoform 44
            [Homo sapiens].
ACCESSION   NP_001372892
VERSION     NP_001372892.1
DBSOURCE    REFSEQ: accession NM_001385963.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 973)
  AUTHORS   Sluysmans S, Mean I, Xiao T, Boukhatemi A, Ferreira F, Jond L,
            Mutero A, Chang CJ and Citi S.
  TITLE     PLEKHA5, PLEKHA6, and PLEKHA7 bind to PDZD11 to target the Menkes
            ATPase ATP7A to the cell periphery and regulate copper homeostasis
  JOURNAL   Mol Biol Cell 32 (21), ar34 (2021)
   PUBMED   34613798
  REMARK    GeneRIF: PLEKHA5, PLEKHA6, and PLEKHA7 bind to PDZD11 to target the
            Menkes ATPase ATP7A to the cell periphery and regulate copper
            homeostasis.
REFERENCE   2  (residues 1 to 973)
  AUTHORS   Zouboulis CC, Nogueira da Costa A, Fimmel S and Zouboulis KC.
  TITLE     Apocrine glands are bystanders in hidradenitis suppurativa and
            their involvement is gender specific
  JOURNAL   J Eur Acad Dermatol Venereol 34 (7), 1555-1563 (2020)
   PUBMED   32031713
REFERENCE   3  (residues 1 to 973)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 973)
  AUTHORS   Zhang H, Zhu H, Deng G, Zito CR, Oria VO, Rane CK, Zhang S, Weiss
            SA, Tran T, Adeniran A, Zhang F, Zhou J, Kluger Y, Bosenberg MW,
            Kluger HM and Jilaveanu LB.
  TITLE     PLEKHA5 regulates tumor growth in metastatic melanoma
  JOURNAL   Cancer 126 (5), 1016-1030 (2020)
   PUBMED   31769872
  REMARK    GeneRIF: PLEKHA5 regulates tumor growth in metastatic melanoma.
REFERENCE   5  (residues 1 to 973)
  AUTHORS   Daily JW, Liu M and Park S.
  TITLE     High genetic risk scores of SLIT3, PLEKHA5 and PPP2R2C variants
            increased insulin resistance and interacted with coffee and
            caffeine consumption in middle-aged adults
  JOURNAL   Nutr Metab Cardiovasc Dis 29 (1), 79-89 (2019)
   PUBMED   30454882
  REMARK    GeneRIF: High genetic risk scores of SLIT3, PLEKHA5 and PPP2R2C
            variants increase susceptibility to increased insulin resistance by
            50% and its risk may be exacerbated by consuming more than 10 cups
            coffee/week or 220 mg caffeine/day.
REFERENCE   6  (residues 1 to 973)
  AUTHORS   Zhang Y, Wolf-Yadlin A, Ross PL, Pappin DJ, Rush J, Lauffenburger
            DA and White FM.
  TITLE     Time-resolved mass spectrometry of tyrosine phosphorylation sites
            in the epidermal growth factor receptor signaling network reveals
            dynamic modules
  JOURNAL   Mol Cell Proteomics 4 (9), 1240-1250 (2005)
   PUBMED   15951569
REFERENCE   7  (residues 1 to 973)
  AUTHORS   Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S,
            Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett
            JR, Langeberg LK, Scott JD and Pawson T.
  TITLE     Proteomic, functional, and domain-based analysis of in vivo 14-3-3
            binding proteins involved in cytoskeletal regulation and cellular
            organization
  JOURNAL   Curr Biol 14 (16), 1436-1450 (2004)
   PUBMED   15324660
REFERENCE   8  (residues 1 to 973)
  AUTHORS   Lehner B and Sanderson CM.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   9  (residues 1 to 973)
  AUTHORS   Grottke C, Mantwill K, Dietel M, Schadendorf D and Lage H.
  TITLE     Identification of differentially expressed genes in human melanoma
            cells with acquired resistance to various antineoplastic drugs
  JOURNAL   Int J Cancer 88 (4), 535-546 (2000)
   PUBMED   11058868
REFERENCE   10 (residues 1 to 973)
  AUTHORS   Dowler S, Currie RA, Campbell DG, Deak M, Kular G, Downes CP and
            Alessi DR.
  TITLE     Identification of pleckstrin-homology-domain-containing proteins
            with novel phosphoinositide-binding specificities
  JOURNAL   Biochem J 351 (Pt 1), 19-31 (2000)
   PUBMED   11001876
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC024902.54, AC087314.7 and AC091805.16.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3594099.1,
                                           SRR14038195.511300.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMN03267761
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..973
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.3"
     Protein         1..973
                     /product="pleckstrin homology domain-containing family A
                     member 5 isoform 44"
                     /note="phosphoinositol 3-phosphate-binding protein-2; PH
                     domain-containing family A member 5; pleckstrin homology
                     domain containing, family A member 5"
                     /calculated_mol_wt=111002
     Region          37..124
                     /region_name="PH_PEPP1_2_3"
                     /note="Phosphoinositol 3-phosphate binding proteins 1, 2,
                     and 3 pleckstrin homology (PH) domain; cd13248"
                     /db_xref="CDD:270068"
     Site            order(37..38,45,47,58,101)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:270068"
     Region          <466..>616
                     /region_name="COG4372"
                     /note="Uncharacterized conserved protein, contains DUF3084
                     domain [Function unknown]"
                     /db_xref="CDD:226809"
     CDS             1..973
                     /gene="PLEKHA5"
                     /gene_synonym="PEPP-2; PEPP2"
                     /coded_by="NM_001385963.1:241..3162"
                     /note="isoform 44 is encoded by transcript variant 44"
                     /db_xref="GeneID:54477"
                     /db_xref="HGNC:HGNC:30036"
                     /db_xref="MIM:607770"
ORIGIN      
        1 mtseekkerp ismineasny nvtsdyavhp mspvgrdstg mklwkkrwfv lsdlclfyyr
       61 dekeegilgs illpsfqial ltsedhinrk yafkaahpnm rtyyfctdtg kemelwmkam
      121 ldaalvqtep vkrvdkitse naptketnni pnhrvlikpe iqnnqknkem skieekkale
      181 aekygfqkdg qdrpltkins vklnslpsey esgsacpaqt vhyrpinlss senkivnvsl
      241 adlrggnrpn tgplyteadr viqrtnsmqq leqwikiqkg rgheeetrgv isyqtlprnm
      301 pshraqimar ypegyrtlpr nsktrpesic svtpsthdkt lgpgaeekrr smrddtmwql
      361 yewqqrqfyn kqstlprhst lsspktmvni sdqtmhsipt spshgsiaay qgyspqrtyr
      421 sevsspiqrg dvtidrrhra hhpkhvyvpd rrsvpagltl qsvspqslqg ktlsqdegrg
      481 tlykyrpeev didaklsrlc eqdkvvhale eklqqlhkek ytleqallsa sqeiemhadn
      541 paaiqtvvlq rddlqnglls tcrelsrata elerawreyd kleydvtvtr nqmqeqldhl
      601 gevqtesagi qraqiqkelw riqdvmegls khkqqrgtte igmigskpfs tvkyknegpd
      661 yrlyksepel ttvaevdesn geeksepvse ietsvvkgsh fpvgvvppra ksptpessti
      721 asyvtlrktk kmmdlrterp rsaveqlcla estrprmtve eqmerirrhq qaclrekkkg
      781 lnvigasdqs plqspsnlrd npfrttqtrr rddkeldtai rendvkpdhe tpateivqlk
      841 etepqnvdfs kelkktenis yemlfepepn gvnsvemmdk ernkdkmped vtfspqdetq
      901 tanhkpeehp eentknsvde qeetvisyes tpevsrgnqt mavkslspsp essaspvpst
      961 qpqltegshf mcv
//
LOCUS       NP_056723                556 aa            linear   PRI 30-DEC-2022
DEFINITION  methyl-CpG-binding domain protein 1 isoform 5 [Homo sapiens].
ACCESSION   NP_056723
VERSION     NP_056723.2
DBSOURCE    REFSEQ: accession NM_015847.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 556)
  AUTHORS   Xu WY, Hu QS, Qin Y, Zhang B, Liu WS, Ni QX, Xu J and Yu XJ.
  TITLE     Zinc finger E-box-binding homeobox 1 mediates aerobic glycolysis
            via suppression of sirtuin 3 in pancreatic cancer
  JOURNAL   World J Gastroenterol 24 (43), 4893-4905 (2018)
   PUBMED   30487699
  REMARK    GeneRIF: ZEB1 silenced SIRT3 expression via interaction with MBD1
            to promote aerobic glycolysis in pancreatic cancer.
REFERENCE   2  (residues 1 to 556)
  AUTHORS   Xu C, Liu K, Lei M, Yang A, Li Y, Hughes TR and Min J.
  TITLE     DNA Sequence Recognition of Human CXXC Domains and Their Structural
            Determinants
  JOURNAL   Structure 26 (1), 85-95 (2018)
   PUBMED   29276034
REFERENCE   3  (residues 1 to 556)
  AUTHORS   Zhang P, Rausch C, Hastert FD, Boneva B, Filatova A, Patil SJ,
            Nuber UA, Gao Y, Zhao X and Cardoso MC.
  TITLE     Methyl-CpG binding domain protein 1 regulates localization and
            activity of Tet1 in a CXXC3 domain-dependent manner
  JOURNAL   Nucleic Acids Res 45 (12), 7118-7136 (2017)
   PUBMED   28449087
  REMARK    GeneRIF: MBD1 regulates localization and activity of Tet1 in a
            CXXC3 domain-dependent manner.
REFERENCE   4  (residues 1 to 556)
  AUTHORS   Qi L and Ding Y.
  TITLE     Screening of Tumor Suppressor Genes in Metastatic Colorectal Cancer
  JOURNAL   Biomed Res Int 2017, 2769140 (2017)
   PUBMED   28473981
  REMARK    GeneRIF: MBD1 may be a tumor suppressor gene in advanced colorectal
            cancer (CRC)and affect the development and metastasis of CRC by
            regulating 8 tumor suppressor genes through binding with SP1.
REFERENCE   5  (residues 1 to 556)
  AUTHORS   Ohki I, Shimotake N, Fujita N, Nakao M and Shirakawa M.
  TITLE     Solution structure of the methyl-CpG-binding domain of the
            methylation-dependent transcriptional repressor MBD1
  JOURNAL   EMBO J 18 (23), 6653-6661 (1999)
   PUBMED   10581239
REFERENCE   6  (residues 1 to 556)
  AUTHORS   Fujita N, Takebayashi S, Okumura K, Kudo S, Chiba T, Saya H and
            Nakao M.
  TITLE     Methylation-mediated transcriptional silencing in euchromatin by
            methyl-CpG binding protein MBD1 isoforms
  JOURNAL   Mol Cell Biol 19 (9), 6415-6426 (1999)
   PUBMED   10454587
REFERENCE   7  (residues 1 to 556)
  AUTHORS   Hendrich B, Abbott C, McQueen H, Chambers D, Cross S and Bird A.
  TITLE     Genomic structure and chromosomal mapping of the murine and human
            Mbd1, Mbd2, Mbd3, and Mbd4 genes
  JOURNAL   Mamm Genome 10 (9), 906-912 (1999)
   PUBMED   10441743
REFERENCE   8  (residues 1 to 556)
  AUTHORS   Ueba T, Kaspar B, Zhao X and Gage FH.
  TITLE     Repression of human fibroblast growth factor 2 by a novel
            transcription factor
  JOURNAL   J Biol Chem 274 (15), 10382-10387 (1999)
   PUBMED   10187827
REFERENCE   9  (residues 1 to 556)
  AUTHORS   Hendrich B and Bird A.
  TITLE     Identification and characterization of a family of mammalian
            methyl-CpG binding proteins
  JOURNAL   Mol Cell Biol 18 (11), 6538-6547 (1998)
   PUBMED   9774669
REFERENCE   10 (residues 1 to 556)
  AUTHORS   Cross SH, Meehan RR, Nan X and Bird A.
  TITLE     A component of the transcriptional repressor MeCP1 shares a motif
            with DNA methyltransferase and HRX proteins
  JOURNAL   Nat Genet 16 (3), 256-259 (1997)
   PUBMED   9207790
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC403953.1, BC033242.1,
            AK225889.1, AJ564845.1 and AK225948.1.
            On Jun 18, 2002 this sequence version replaced NP_056723.1.
            
            Summary: The protein encoded by this gene is a member of a family
            of nuclear proteins related by the presence of a methyl-CpG binding
            domain (MBD). These proteins are capable of binding specifically to
            methylated DNA, and some members can also repress transcription
            from methylated gene promoters. This protein contains multiple
            domains: MBD at the N-terminus that functions both in binding to
            methylated DNA and in protein interactions; several CXXC-type zinc
            finger domains that mediate binding to non-methylated CpG
            dinucleotides; transcriptional repression domain (TRD) at the
            C-terminus that is involved in transcription repression and in
            protein interactions. Numerous alternatively spliced transcript
            variants encoding different isoforms have been noted for this
            gene.[provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (5) lacks an in-frame coding exon
            compared to variant 1, resulting in a shorter isoform (5) missing
            an internal protein segment compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Y10746.1, SRR11853559.15804.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..556
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     Protein         1..556
                     /product="methyl-CpG-binding domain protein 1 isoform 5"
                     /note="the regulator of fibroblast growth factor 2 (FGF-2)
                     transcription; CXXC-type zinc finger protein 3; protein
                     containing methyl-CpG-binding domain 1"
                     /calculated_mol_wt=61134
     Region          3..76
                     /region_name="MBD"
                     /note="Methyl-CpG binding domain; smart00391"
                     /db_xref="CDD:128673"
     Site            order(18,20,22,30,32,41,44,48)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238690"
     Region          168..213
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     Region          282..328
                     /region_name="zf-CXXC"
                     /note="CXXC zinc finger domain; pfam02008"
                     /db_xref="CDD:366873"
     CDS             1..556
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /coded_by="NM_015847.4:187..1857"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS11944.1"
                     /db_xref="GeneID:4152"
                     /db_xref="HGNC:HGNC:6916"
                     /db_xref="MIM:156535"
ORIGIN      
        1 maedwldcpa lgpgwkrrev frksgatcgr sdtyyqsptg drirskvelt rylgpacdlt
       61 lfdfkqgilc ypapkahpva vaskkrkkps rpaktrkrqv gpqsgevrke aprdetkadt
      121 dtapasfpap gccencgisf sgdgtqrqrl ktlckdcraq riafnreqrm fksrgcgvcr
      181 gcqtqedcgh cpiclrpprp glrrqwkcvq rrclrgkhar rkggcdskma arrrpgaqpl
      241 pppppsqspe ptephprala psppaefiyy cvdedelqpy tnrrqnrkcg acaaclrrmd
      301 cgrcdfccdk pkfggsnqkr qkcrwrqclq famkrllpsv wsesedgags pppyrrrkrp
      361 ssarrhhlgp tlkptlatrt aqpdhtqapt kqeagggfvl pppgtdlvfl regasspvqv
      421 pgpvaastea llqeaqcsgl swvvalpqvk qekadtqdew tpgtavltsp vlvpgcpska
      481 vdpglpsvkq eppdpeedke enkddsaskl apeeeaggag tpviteifsl ggtrfrdtav
      541 wlprskdlkk pgarkq
//
LOCUS       NP_001374026             417 aa            linear   PRI 31-DEC-2022
DEFINITION  tyrosine-protein kinase CSK isoform 4 [Homo sapiens].
ACCESSION   NP_001374026
VERSION     NP_001374026.1
DBSOURCE    REFSEQ: accession NM_001387097.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 417)
  AUTHORS   Brian BF 4th, Sjaastad FV and Freedman TS.
  TITLE     SH3-domain mutations selectively disrupt Csk homodimerization or
            PTPN22 binding
  JOURNAL   Sci Rep 12 (1), 5875 (2022)
   PUBMED   35393453
  REMARK    GeneRIF: SH3-domain mutations selectively disrupt Csk
            homodimerization or PTPN22 binding.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 417)
  AUTHORS   Chiva-Blanch G, Pena E, Cubedo J, Garcia-Arguinzonis M, Pane A, Gil
            PA, Perez A, Ortega E, Padro T and Badimon L.
  TITLE     Molecular mapping of platelet hyperreactivity in diabetes: the
            stress proteins complex HSPA8/Hsp90/CSK2alpha and platelet
            aggregation in diabetic and normal platelets
  JOURNAL   Transl Res 235, 1-14 (2021)
   PUBMED   33887528
  REMARK    GeneRIF: Molecular mapping of platelet hyperreactivity in diabetes:
            the stress proteins complex HSPA8/Hsp90/CSK2alpha and platelet
            aggregation in diabetic and normal platelets.
REFERENCE   3  (residues 1 to 417)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   4  (residues 1 to 417)
  AUTHORS   Kuga T, Yamane Y, Hayashi S, Taniguchi M, Yamaguchi N and Yamagishi
            N.
  TITLE     Depletion of Csk preferentially reduces the protein level of LynA
            in a Cbl-dependent manner in cancer cells
  JOURNAL   Sci Rep 10 (1), 7621 (2020)
   PUBMED   32376886
  REMARK    GeneRIF: Depletion of Csk preferentially reduces the protein level
            of LynA in a Cbl-dependent manner in cancer cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 417)
  AUTHORS   Yao Q, Liu BQ, Li H, McGarrigle D, Xing BW, Zhou MT, Wang Z, Zhang
            JJ, Huang XY and Guo L.
  TITLE     C-terminal Src kinase (Csk)-mediated phosphorylation of eukaryotic
            elongation factor 2 (eEF2) promotes proteolytic cleavage and
            nuclear translocation of eEF2
  JOURNAL   J Biol Chem 289 (18), 12666-12678 (2014)
   PUBMED   24648518
  REMARK    GeneRIF: Data indicate that the accumulation of the cleaved
            C-terminal small fragment of eukaryotic elongation factor 2 (eEF2)
            in the nucleus, and C-terminal Src kinase (Csk) could enhance the
            proteolytic cleavage of eEF2.
REFERENCE   6  (residues 1 to 417)
  AUTHORS   Manjarrez-Orduno N, Marasco E, Chung SA, Katz MS, Kiridly JF,
            Simpfendorfer KR, Freudenberg J, Ballard DH, Nashi E, Hopkins TJ,
            Cunninghame Graham DS, Lee AT, Coenen MJ, Franke B, Swinkels DW,
            Graham RR, Kimberly RP, Gaffney PM, Vyse TJ, Behrens TW, Criswell
            LA, Diamond B and Gregersen PK.
  TITLE     CSK regulatory polymorphism is associated with systemic lupus
            erythematosus and influences B-cell signaling and activation
  JOURNAL   Nat Genet 44 (11), 1227-1230 (2012)
   PUBMED   23042117
  REMARK    GeneRIF: This suggests that the Lyp-Csk complex increases
            susceptibility to lupus at multiple maturation and activation
            points in B cells.
REFERENCE   7  (residues 1 to 417)
  AUTHORS   Brauninger A, Holtrich U, Strebhardt K and Rubsamen-Waigmann H.
  TITLE     Isolation and characterization of a human gene that encodes a new
            subclass of protein tyrosine kinases
  JOURNAL   Gene 110 (2), 205-211 (1992)
   PUBMED   1371489
REFERENCE   8  (residues 1 to 417)
  AUTHORS   Armstrong E, Cannizzaro L, Bergman M, Huebner K and Alitalo K.
  TITLE     The c-src tyrosine kinase (CSK) gene, a potential antioncogene,
            localizes to human chromosome region 15q23----q25
  JOURNAL   Cytogenet Cell Genet 60 (2), 119-120 (1992)
   PUBMED   1377109
REFERENCE   9  (residues 1 to 417)
  AUTHORS   Holtrich U, Brauninger A, Strebhardt K and Rubsamen-Waigmann H.
  TITLE     Two additional protein-tyrosine kinases expressed in human lung:
            fourth member of the fibroblast growth factor receptor family and
            an intracellular protein-tyrosine kinase
  JOURNAL   Proc Natl Acad Sci U S A 88 (23), 10411-10415 (1991)
   PUBMED   1720539
REFERENCE   10 (residues 1 to 417)
  AUTHORS   Partanen J, Armstrong E, Bergman M, Makela TP, Hirvonen H, Huebner
            K and Alitalo K.
  TITLE     cyl encodes a putative cytoplasmic tyrosine kinase lacking the
            conserved tyrosine autophosphorylation site (Y416src)
  JOURNAL   Oncogene 6 (11), 2013-2018 (1991)
   PUBMED   1945408
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091230.23.
            
            Summary: The protein encoded by this gene is involved in multiple
            pathways, including the regulation of Src family kinases. It plays
            an important role in T-cell activation through its association with
            the protein encoded by the protein tyrosine phosphatase,
            non-receptor type 22 (PTPN22) gene. This protein also
            phosphorylates C-terminal tyrosine residues on multiple substrates,
            including the protein encoded by the SRC proto-oncogene,
            non-receptor tyrosine kinase gene. Phosphorylation suppresses the
            kinase activity of the Src family tyrosine kinases. An intronic
            polymorphism (rs34933034) in this gene has been found to affect
            B-cell activation and is associated with systemic lupus
            erythematosus (SLE). Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..417
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     Protein         1..417
                     /product="tyrosine-protein kinase CSK isoform 4"
                     /EC_number="2.7.10.2"
                     /note="tyrosine-protein kinase CSK; C-Src kinase;
                     protein-tyrosine kinase CYL; c-src tyrosine kinase; CSK,
                     non-receptor tyrosine kinase"
                     /calculated_mol_wt=46923
     Region          11..57
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:450141"
     Region          53..142
                     /region_name="SH2_csk_like"
                     /note="Src homology 2 (SH2) domain found in
                     Carboxyl-Terminal Src Kinase (Csk); cd09937"
                     /db_xref="CDD:198190"
     Site            order(56,74,95,97)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198190"
     Site            order(96,123)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198190"
     Region          155..410
                     /region_name="PTKc_Csk"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     C-terminal Src kinase; cd05082"
                     /db_xref="CDD:133213"
     Site            order(168..170,176,187,189,216,233..236,239..240,281,
                     285..286,288,298..299,312..316,325,359)
                     /site_type="active"
                     /db_xref="CDD:133213"
     Site            order(168..170,176,187,189,216,233..236,239..240,285..286,
                     288,298..299)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133213"
     Site            order(182,193,205,208..209,211,226)
                     /site_type="other"
                     /note="SH3/SH2 domain interface [polypeptide binding]"
                     /db_xref="CDD:133213"
     Site            order(246..250,318,351..352,355..357)
                     /site_type="other"
                     /note="c-Src interface [polypeptide binding]"
                     /db_xref="CDD:133213"
     Site            order(281,285,312..316,325,359)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133213"
     Site            298..318
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133213"
     CDS             1..417
                     /gene="CSK"
                     /coded_by="NM_001387097.1:707..1960"
                     /note="isoform 4 is encoded by transcript variant 12"
                     /db_xref="GeneID:1445"
                     /db_xref="HGNC:HGNC:2444"
                     /db_xref="MIM:124095"
ORIGIN      
        1 msaiqaawps gteciakynf hgtaeqdlpf ckgdvltiva vtkdpnwyka knkitreqae
       61 rllyppetgl flvrestnyp gdytlcvscd gkvehyrimy hasklsidee vyfenlmqlv
      121 ehytsdadgl ctrlikpkvm egtvaaqdef yrsgwalnmk elkllqtigk gefgdvmlgd
      181 yrgnkvavkc ikndataqaf laeasvmtql rhsnlvqllg viveekggly ivteymakgs
      241 lvdylrsrgr svlggdcllk fsldvceame ylegnnfvhr dlaarnvlvs ednvakvsdf
      301 gltkeasstq dtgklpvkwt apealrekkf stksdvwsfg illweiysfg rvpypriplk
      361 dvvprvekgy kmdapdgcpp avyevmkncw hldaamrpsf lqlreqlehi kthelhl
//
LOCUS       NP_001392197             955 aa            linear   PRI 01-JAN-2023
DEFINITION  electroneutral sodium bicarbonate exchanger 1 isoform 7 [Homo
            sapiens].
ACCESSION   NP_001392197
VERSION     NP_001392197.1
DBSOURCE    REFSEQ: accession NM_001405268.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 955)
  AUTHORS   Wang W, Tsirulnikov K, Zhekova HR, Kayik G, Khan HM, Azimov R,
            Abuladze N, Kao L, Newman D, Noskov SY, Zhou ZH, Pushkin A and
            Kurtz I.
  TITLE     Cryo-EM structure of the sodium-driven chloride/bicarbonate
            exchanger NDCBE
  JOURNAL   Nat Commun 12 (1), 5690 (2021)
   PUBMED   34584093
  REMARK    GeneRIF: Cryo-EM structure of the sodium-driven
            chloride/bicarbonate exchanger NDCBE.
            Erratum:[Nat Commun. 2021 Oct 13;12(1):6083. PMID: 34645810]
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 955)
  AUTHORS   Sweeney MD, Zhao Z, Montagne A, Nelson AR and Zlokovic BV.
  TITLE     Blood-Brain Barrier: From Physiology to Disease and Back
  JOURNAL   Physiol Rev 99 (1), 21-78 (2019)
   PUBMED   30280653
  REMARK    Review article
REFERENCE   3  (residues 1 to 955)
  AUTHORS   Alvadia CM, Sommer T, Bjerregaard-Andersen K, Damkier HH, Montrasio
            M, Aalkjaer C and Morth JP.
  TITLE     The crystal structure of the regulatory domain of the human
            sodium-driven chloride/bicarbonate exchanger
  JOURNAL   Sci Rep 7 (1), 12131 (2017)
   PUBMED   28935959
  REMARK    GeneRIF: The crystal structure at 2.8 A resolution of the
            regulatory N-terminal domain of human NDCBE represents the first
            crystal structure of an electroneutral sodium-bicarbonate
            cotransporter. The crystal structure forms an equivalent dimeric
            interface as observed for the cytoplasmic domain of Band 3, and
            thus establishes that the consensus motif VTVLP is the key minimal
            dimerization motif.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 955)
  AUTHORS   Sherva R, Tripodis Y, Bennett DA, Chibnik LB, Crane PK, de Jager
            PL, Farrer LA, Saykin AJ, Shulman JM, Naj A and Green RC.
  CONSRTM   GENAROAD Consortium; Alzheimer's Disease Neuroimaging Initiative;
            Alzheimer's Disease Genetics Consortium
  TITLE     Genome-wide association study of the rate of cognitive decline in
            Alzheimer's disease
  JOURNAL   Alzheimers Dement 10 (1), 45-52 (2014)
   PUBMED   23535033
REFERENCE   5  (residues 1 to 955)
  AUTHORS   Parker MD, Bouyer P, Daly CM and Boron WF.
  TITLE     Cloning and characterization of novel human SLC4A8 gene products
            encoding Na+-driven Cl-/HCO3(-) exchanger variants NDCBE-A, -C, and
            -D
  JOURNAL   Physiol Genomics 34 (3), 265-276 (2008)
   PUBMED   18577713
  REMARK    GeneRIF: This study confirmed the presence in human cDNA of mouse
            NDCBE-like transcripts (human NDCBE-A) and three novel transcripts
            NDCBE-C, NDCBE-D, and NDCBE-D'.
REFERENCE   6  (residues 1 to 955)
  AUTHORS   Park M, Ko SB, Choi JY, Muallem G, Thomas PJ, Pushkin A, Lee MS,
            Kim JY, Lee MG, Muallem S and Kurtz I.
  TITLE     The cystic fibrosis transmembrane conductance regulator interacts
            with and regulates the activity of the HCO3- salvage transporter
            human Na+-HCO3- cotransport isoform 3
  JOURNAL   J Biol Chem 277 (52), 50503-50509 (2002)
   PUBMED   12403779
REFERENCE   7  (residues 1 to 955)
  AUTHORS   Gresz V, Kwon TH, Vorum H, Zelles T, Kurtz I, Steward MC, Aalkjaer
            C and Nielsen S.
  TITLE     Immunolocalization of electroneutral Na(+)-HCO cotransporters in
            human and rat salivary glands
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 283 (2), G473-G480 (2002)
   PUBMED   12121896
REFERENCE   8  (residues 1 to 955)
  AUTHORS   Soleimani M.
  TITLE     Na+:HCO3- cotransporters (NBC): expression and regulation in the
            kidney
  JOURNAL   J Nephrol 15 Suppl 5, S32-S40 (2002)
   PUBMED   12027220
  REMARK    Review article
REFERENCE   9  (residues 1 to 955)
  AUTHORS   Grichtchenko II, Choi I, Zhong X, Bray-Ward P, Russell JM and Boron
            WF.
  TITLE     Cloning, characterization, and chromosomal mapping of a human
            electroneutral Na(+)-driven Cl-HCO3 exchanger
  JOURNAL   J Biol Chem 276 (11), 8358-8363 (2001)
   PUBMED   11133997
REFERENCE   10 (residues 1 to 955)
  AUTHORS   Amlal H, Burnham CE and Soleimani M.
  TITLE     Characterization of Na+/HCO-3 cotransporter isoform NBC-3
  JOURNAL   Am J Physiol 276 (6), F903-F913 (1999)
   PUBMED   10362779
  REMARK    Erratum:[Am J Physiol 1999 Sep;277(3 Pt 2):followi]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC107031.6 and AC025097.41.
            
            Summary: The protein encoded by this gene is a membrane protein
            that functions to transport sodium and bicarbonate ions across the
            cell membrane. The encoded protein is important for pH regulation
            in neurons. The activity of this protein can be inhibited by
            4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Apr 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3919889.1,
                                           SRR14372079.3682742.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153031, SAMN03465404
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..955
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     Protein         1..955
                     /product="electroneutral sodium bicarbonate exchanger 1
                     isoform 7"
                     /note="electroneutral sodium bicarbonate exchanger 1;
                     k-NBC3; electroneutral Na(+)-driven Cl-HCO3 exchanger;
                     solute carrier family 4, sodium bicarbonate cotransporter,
                     member 8"
                     /calculated_mol_wt=107521
     Region          1..25
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1)"
     Region          55..95
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1)"
     Region          117..867
                     /region_name="Band_3_cyto"
                     /note="Band 3 cytoplasmic domain; cl26877"
                     /db_xref="CDD:452680"
     Region          340..344
                     /region_name="VTVLP, mediates dimerization.
                     /evidence=ECO:0000269|PubMed:28935959"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1)"
     Site            479..499
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1)"
     Site            524..544
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1)"
     Site            566..586
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1)"
     Site            596..616
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1)"
     Site            646
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc) asparagine.
                     /evidence=ECO:0000250|UniProtKB:Q6RVG2; propagated from
                     UniProtKB/Swiss-Prot (Q2Y0W8.1)"
     Site            688..708
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1)"
     Site            732..752
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1)"
     CDS             1..955
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /coded_by="NM_001405268.1:158..3025"
                     /note="isoform 7 is encoded by transcript variant 9"
                     /db_xref="GeneID:9498"
                     /db_xref="HGNC:HGNC:11034"
                     /db_xref="MIM:605024"
ORIGIN      
        1 mpaagsnepd gvlsyqrpde eavvdqggts tilnihyeke eleghrtlyv gvrmplgrqs
       61 hrhhrthgqk hrrrgrgkga sqgeegleal ahdtpsqrvq filgteedee hvphelftel
      121 deicmkeged aewketarwl kfeedvedgg erwskpyvat lslhslfelr sclingtvll
      181 dmhansieei sdlildqqel ssdlndsmrv kvreallkkh hhqnekkrnn lipivrsfae
      241 vgkkqsdphl mdkhgqtvsp qsvpttnlev kngvncehsp vdlskvdlhf mkkiptgaea
      301 snvlvgevdi ldrpivafvr lspavllsgl tevpiptrfl fillgpvgkg qqyheigrsm
      361 atimtdeifh dvaykakerd dllagidefl dqvtvlppge wdpsiriepp knvpsqekrk
      421 mpgvpngnvc hieqephggh sgpelqrtgr lfgglvldik rkapwywsdy rdalslqcla
      481 sflflycacm spvitfggll geategrisa ieslfgasmt giayslfagq altilgstgp
      541 vlvfekilfk fckdyalsyl slraciglwt aflcivlvat dasslvcyit rfteeafasl
      601 iciifiyeai eklihlaety pihmhsqldh lslyycrctl penpnnhtlq ywkdhnivta
      661 evhwanltvs ecqemhgefm gsacghhgpy tpdvlfwsci lffttfilss tlktfktsry
      721 fptrvrsmvs dfavfltift mviidfligv pspklqvpsv fkfipmpvly gvflymgvss
      781 lqgiqffdrl klfgmpakhq pdfiylrhvp lrkvhlftli qltclvllwv ikaspaaivf
      841 pmmvlalvfv rkvmdlcfsk relswlddlm peskkkkldd akkkakeeee aekmleiggd
      901 kfplesrkll sspgkniscr cdpseinisd empkttvwka lsmnsgnake kslfn
//
LOCUS       NP_001339372             464 aa            linear   PRI 22-JAN-2023
DEFINITION  actin-binding LIM protein 1 isoform x [Homo sapiens].
ACCESSION   NP_001339372 XP_016871747
VERSION     NP_001339372.1
DBSOURCE    REFSEQ: accession NM_001352443.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 464)
  AUTHORS   Liu D, Wang X, Liu Y, Li C, Zhang Z and Lv P.
  TITLE     Actin-Binding LIM 1 (ABLIM1) Inhibits Glioblastoma Progression and
            Serves as a Novel Prognostic Biomarker
  JOURNAL   Dis Markers 2022, 9516808 (2022)
   PUBMED   36583064
  REMARK    GeneRIF: Actin-Binding LIM 1 (ABLIM1) Inhibits Glioblastoma
            Progression and Serves as a Novel Prognostic Biomarker.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 464)
  AUTHORS   Cervan-Martin M, Bossini-Castillo L, Rivera-Egea R, Garrido N,
            Lujan S, Romeu G, Santos-Ribeiro S, Castilla JA, Gonzalvo MDC,
            Clavero A, Vicente FJ, Guzman-Jimenez A, Burgos M, Barrionuevo FJ,
            Jimenez R, Sanchez-Curbelo J, Lopez-Rodrigo O, Peraza MF,
            Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Bassas L,
            Seixas S, Goncalves J, Larriba S, Lopes AM, Carmona FD and
            Palomino-Morales RJ.
  CONSRTM   IVIRMA Group, Lisbon Clinical Group
  TITLE     Effect and in silico characterization of genetic variants
            associated with severe spermatogenic disorders in a large Iberian
            cohort
  JOURNAL   Andrology 9 (4), 1151-1165 (2021)
   PUBMED   33784440
  REMARK    GeneRIF: Effect and in silico characterization of genetic variants
            associated with severe spermatogenic disorders in a large Iberian
            cohort.
REFERENCE   3  (residues 1 to 464)
  AUTHORS   Dong X, Feng M, Yang H, Liu H, Guo H, Gao X, Liu Y, Liu R, Zhang N,
            Chen R and Kong R.
  TITLE     Rictor promotes cell migration and actin polymerization through
            regulating ABLIM1 phosphorylation in Hepatocellular Carcinoma
  JOURNAL   Int J Biol Sci 16 (15), 2835-2852 (2020)
   PUBMED   33061800
  REMARK    GeneRIF: Rictor promotes cell migration and actin polymerization
            through regulating ABLIM1 phosphorylation in Hepatocellular
            Carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 464)
  AUTHORS   Ohsawa N, Koebis M, Mitsuhashi H, Nishino I and Ishiura S.
  TITLE     ABLIM1 splicing is abnormal in skeletal muscle of patients with DM1
            and regulated by MBNL, CELF and PTBP1
  JOURNAL   Genes Cells 20 (2), 121-134 (2015)
   PUBMED   25403273
  REMARK    GeneRIF: Exon 11 inclusion isoform of ABLIM1 may have a
            muscle-specific function, and its abnormal splicing could be
            related to muscle symptoms of myotonic dystrophy type 1.
REFERENCE   5  (residues 1 to 464)
  AUTHORS   Cao J, Shen Y, Zhu L, Xu Y, Zhou Y, Wu Z, Li Y, Yan X and Zhu X.
  TITLE     miR-129-3p controls cilia assembly by regulating CP110 and actin
            dynamics
  JOURNAL   Nat Cell Biol 14 (7), 697-706 (2012)
   PUBMED   22684256
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 464)
  AUTHORS   Wang KS, Liu X, Aragam N, Mullersman JE, Jian X, Pan Y and Liu Y.
  TITLE     Polymorphisms in ABLIM1 are associated with personality traits and
            alcohol dependence
  JOURNAL   J Mol Neurosci 46 (2), 265-271 (2012)
   PUBMED   21547531
  REMARK    GeneRIF: SNP rs727532 in ABLIM1 (10q25) had significant association
            in the multivariate test & strong associations with novelty
            seeking, harm avoidance, reward dependence and alcohol dependence
            in the COGA sample.
REFERENCE   7  (residues 1 to 464)
  AUTHORS   Barrientos T, Frank D, Kuwahara K, Bezprozvannaya S, Pipes GC,
            Bassel-Duby R, Richardson JA, Katus HA, Olson EN and Frey N.
  TITLE     Two novel members of the ABLIM protein family, ABLIM-2 and -3,
            associate with STARS and directly bind F-actin
  JOURNAL   J Biol Chem 282 (11), 8393-8403 (2007)
   PUBMED   17194709
REFERENCE   8  (residues 1 to 464)
  AUTHORS   Kim AC, Peters LL, Knoll JH, Van Huffel C, Ciciotte SL, Kleyn PW
            and Chishti AH.
  TITLE     Limatin (LIMAB1), an actin-binding LIM protein, maps to mouse
            chromosome 19 and human chromosome 10q25, a region frequently
            deleted in human cancers
  JOURNAL   Genomics 46 (2), 291-293 (1997)
   PUBMED   9417918
REFERENCE   9  (residues 1 to 464)
  AUTHORS   Roof DJ, Hayes A, Adamian M, Chishti AH and Li T.
  TITLE     Molecular characterization of abLIM, a novel actin-binding and
            double zinc finger protein
  JOURNAL   J Cell Biol 138 (3), 575-588 (1997)
   PUBMED   9245787
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133384.12.
            On Jun 14, 2017 this sequence version replaced XP_016871747.1.
            
            Summary: This gene encodes a LIM zinc-binding domain-containing
            protein that binds to actin filaments and mediates interactions
            between actin and cytoplasmic targets. Alternatively spliced
            transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jun 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..464
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.3"
     Protein         1..464
                     /product="actin-binding LIM protein 1 isoform x"
                     /note="actin-binding double-zinc-finger protein;
                     actin-binding LIM protein family member 1"
                     /calculated_mol_wt=52713
     Region          <1..24
                     /region_name="LIM"
                     /note="LIM is a small protein-protein interaction domain,
                     containing two zinc fingers; cl02475"
                     /db_xref="CDD:413332"
     Region          33..414
                     /region_name="AbLIM_anchor"
                     /note="Putative adherens-junction anchoring region of
                     AbLIM; pfam16182"
                     /db_xref="CDD:435194"
     Region          429..464
                     /region_name="VHP"
                     /note="Villin headpiece domain; smart00153"
                     /db_xref="CDD:128458"
     CDS             1..464
                     /gene="ABLIM1"
                     /gene_synonym="ABLIM; abLIM-1; LIMAB1; LIMATIN"
                     /coded_by="NM_001352443.2:309..1703"
                     /note="isoform x is encoded by transcript variant 27"
                     /db_xref="GeneID:3983"
                     /db_xref="HGNC:HGNC:78"
                     /db_xref="MIM:602330"
ORIGIN      
        1 mftegeemyl qgstvwhpdc kqstkteekl rptrtssesi ysrpgssipg spghtiyakv
       61 dneildykdl aaipkvkaiy dierpdlity epfytsgydd kqerqslges prtlsptpsa
      121 egyqdvrdrm ihrstsqgsi nspvysrhsy tpttsrspqh fhrpgnepss grnsplpyrp
      181 dsrpltptya qapkhfhvpd qginiyrkpp iykqhdaaal aaqskssedi ikfskfpaaq
      241 apdpsetpki etdhwpgpps favvgpdmkr rssgreedde ellrrrqlqe eqlmklnsgl
      301 gqlilkeeme kesrerssll asrydspins ashipsskta slpgygrngl hrpvstdfaq
      361 ynsygdvsgg vrdyqtlpdg hmpamrmdrg vsmpnmlepk ifpyemlmvt nrgrnkilre
      421 vdrtrlerhl apevfreifg msiqefdrlp lwrrndmkkk aklf
//
LOCUS       NP_001135805             370 aa            linear   PRI 15-MAR-2023
DEFINITION  RNA binding protein fox-1 homolog 1 isoform 5 [Homo sapiens].
ACCESSION   NP_001135805
VERSION     NP_001135805.1
DBSOURCE    REFSEQ: accession NM_001142333.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 370)
  AUTHORS   O'Leary A, Fernandez-Castillo N, Gan G, Yang Y, Yotova AY, Kranz
            TM, Grunewald L, Freudenberg F, Anton-Galindo E, Cabana-Dominguez
            J, Harneit A, Schweiger JI, Schwarz K, Ma R, Chen J, Schwarz E,
            Rietschel M, Tost H, Meyer-Lindenberg A, Pane-Farre CA, Kircher T,
            Hamm AO, Burguera D, Mota NR, Franke B, Schweiger S, Winter J,
            Heinz A, Erk S, Romanczuk-Seiferth N, Walter H, Strohle A, Fehm L,
            Fydrich T, Lueken U, Weber H, Lang T, Gerlach AL, Nothen MM, Alpers
            GW, Arolt V, Witt S, Richter J, Straube B, Cormand B, Slattery DA
            and Reif A.
  TITLE     Behavioural and functional evidence revealing the role of RBFOX1
            variation in multiple psychiatric disorders and traits
  JOURNAL   Mol Psychiatry 27 (11), 4464-4473 (2022)
   PUBMED   35948661
  REMARK    GeneRIF: Behavioural and functional evidence revealing the role of
            RBFOX1 variation in multiple psychiatric disorders and traits.
REFERENCE   2  (residues 1 to 370)
  AUTHORS   Thibord F, Chan MV, Chen MH and Johnson AD.
  TITLE     A year of COVID-19 GWAS results from the GRASP portal reveals
            potential genetic risk factors
  JOURNAL   HGG Adv 3 (2), 100095 (2022)
   PUBMED   35224516
REFERENCE   3  (residues 1 to 370)
  AUTHORS   Morini A, Drossart T, Timsit MO, Sibony M, Vasiliu V,
            Gimenez-Roqueplo AP, Favier J, Badoual C, Mejean A, Burnichon N and
            Verkarre V.
  TITLE     Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway
            genes and low expression of FOXI1
  JOURNAL   Mod Pathol 35 (3), 352-360 (2022)
   PUBMED   34531523
  REMARK    GeneRIF: Low-grade oncocytic renal tumor (LOT): mutations in mTOR
            pathway genes and low expression of FOXI1.
REFERENCE   4  (residues 1 to 370)
  AUTHORS   Tascon-Arcila J, Rojas-Jimenez S, Cornejo-Sanchez D, Gomez-Builes
            P, Ucroz-Benavides A, Holguin BM, Restrepo-Arbelaez D,
            Gomez-Castillo C, Solarte-Mia R, Cornejo-Ochoa W and
            Pineda-Trujillo N.
  TITLE     Differential Clinical Features in Colombian Patients With Rolandic
            Epilepsy and Suggestion of Unlikely Association With GRIN2A,
            RBFOX1, or RBFOX3 Gene Variants
  JOURNAL   J Child Neurol 36 (10), 875-882 (2021)
   PUBMED   34039076
  REMARK    GeneRIF: Differential Clinical Features in Colombian Patients With
            Rolandic Epilepsy and Suggestion of Unlikely Association With
            GRIN2A, RBFOX1, or RBFOX3 Gene Variants.
REFERENCE   5  (residues 1 to 370)
  AUTHORS   Shelton JF, Shastri AJ, Ye C, Weldon CH, Filshtein-Sonmez T, Coker
            D, Symons A, Esparza-Gordillo J, Aslibekyan S and Auton A.
  CONSRTM   23andMe COVID-19 Team
  TITLE     Trans-ancestry analysis reveals genetic and nongenetic associations
            with COVID-19 susceptibility and severity
  JOURNAL   Nat Genet 53 (6), 801-808 (2021)
   PUBMED   33888907
REFERENCE   6  (residues 1 to 370)
  AUTHORS   Ponthier JL, Schluepen C, Chen W, Lersch RA, Gee SL, Hou VC, Lo AJ,
            Short SA, Chasis JA, Winkelmann JC and Conboy JG.
  TITLE     Fox-2 splicing factor binds to a conserved intron motif to promote
            inclusion of protein 4.1R alternative exon 16
  JOURNAL   J Biol Chem 281 (18), 12468-12474 (2006)
   PUBMED   16537540
  REMARK    GeneRIF: Fox-1 and Fox-2 splicing factors have roles in alternative
            splicing of protein 4.1R
REFERENCE   7  (residues 1 to 370)
  AUTHORS   Auweter SD, Fasan R, Reymond L, Underwood JG, Black DL, Pitsch S
            and Allain FH.
  TITLE     Molecular basis of RNA recognition by the human alternative
            splicing factor Fox-1
  JOURNAL   EMBO J 25 (1), 163-173 (2006)
   PUBMED   16362037
  REMARK    GeneRIF: These results demonstrate the unusual molecular mechanism
            of sequence-specific RNA recognition by Fox-1, which is exceptional
            in its high affinity for a defined but short sequence element.
REFERENCE   8  (residues 1 to 370)
  AUTHORS   Underwood JG, Boutz PL, Dougherty JD, Stoilov P and Black DL.
  TITLE     Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal
            splicing regulators in mammals
  JOURNAL   Mol Cell Biol 25 (22), 10005-10016 (2005)
   PUBMED   16260614
  REMARK    GeneRIF: Fox-1 and Fox-2 isoforms specifically activate splicing of
            neuronally regulated exons, which requires UGCAUG enhancer elements
REFERENCE   9  (residues 1 to 370)
  AUTHORS   Kiehl TR, Shibata H, Vo T, Huynh DP and Pulst SM.
  TITLE     Identification and expression of a mouse ortholog of A2BP1
  JOURNAL   Mamm Genome 12 (8), 595-601 (2001)
   PUBMED   11471052
REFERENCE   10 (residues 1 to 370)
  AUTHORS   Shibata H, Huynh DP and Pulst SM.
  TITLE     A novel protein with RNA-binding motifs interacts with ataxin-2
  JOURNAL   Hum Mol Genet 9 (9), 1303-1313 (2000)
   PUBMED   10814712
  REMARK    Erratum:[Hum Mol Genet 2000 Jul 22;9(12):1903]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009135.12, AB208826.1,
            AF448859.1 and AC005774.1.
            
            Summary: The Fox-1 family of RNA-binding proteins is evolutionarily
            conserved, and regulates tissue-specific alternative splicing in
            metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or
            in flanking introns. The protein binds to the C-terminus of
            ataxin-2 and may contribute to the restricted pathology of
            spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of
            the SCA2 gene which causes familial neurodegenerative diseases.
            Fox-1 and ataxin-2 are both localized in the trans-Golgi network.
            Several alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Nov 2011].
            
            Transcript Variant: This variant (5) differs in the 5' UTR and has
            multiple coding region differences compared to variant 1. The
            resulting isoform (5) has a shorter and distinct N-terminus and
            other internal differences compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803611.34651.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2145743, SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
                                   variant(s)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..370
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..370
                     /product="RNA binding protein fox-1 homolog 1 isoform 5"
                     /note="ataxin 2-binding protein 1; fox-1 homolog A;
                     fox-1-like RNA-binding protein 1;
                     hexaribonucleotide-binding protein 1; RNA binding protein,
                     fox-1 homolog 1"
                     /calculated_mol_wt=39874
     Region          11..>177
                     /region_name="Agg_substance"
                     /note="LPXTG-anchored aggregation substance; NF033875"
                     /db_xref="CDD:411439"
     Region          96..101
                     /region_name="RNA binding motif RNP-2"
     Region          117..192
                     /region_name="RRM_FOX1_like"
                     /note="RNA recognition motif (RRM) found in vertebrate RNA
                     binding protein fox-1 homologs and similar proteins;
                     cd12407"
                     /db_xref="CDD:409841"
     Site            order(118,120,122..127,147..151,153..158,160,184,189..192)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:409841"
     Region          130..136
                     /region_name="RNA binding motif RNP-1"
     Region          226..315
                     /region_name="Fox-1_C"
                     /note="Calcitonin gene-related peptide regulator C
                     terminal; pfam12414"
                     /db_xref="CDD:432537"
     CDS             1..370
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /coded_by="NM_001142333.2:1096..2208"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS55984.1"
                     /db_xref="GeneID:54715"
                     /db_xref="HGNC:HGNC:18222"
                     /db_xref="MIM:605104"
ORIGIN      
        1 mncereqlrg nqeaaaapdt maqpyasaqf appqngipae ytaphphpap eytgqttvpe
       61 htlnlyppaq thseqspadt saqtvsgtat qtddaaptdg qpqtqpsent enksqpkrlh
      121 vsnipfrfrd pdlrqmfgqf gkildveiif nergskgfgf vtfensadad rareklhgtv
      181 vegrkievnn atarvmtnkk tvnpytngwk lnpvvgavys pefyavpgfp ypaataaaay
      241 rgahlrgrgr tvyntfraaa ppppipaygg vvyqdgfyga diyggyaayr yaqptpataa
      301 aysdsygrvy aadpyhhala paptygvgam nafapltdak trshaddvgl vlsslqasiy
      361 rggynrfapy
//
LOCUS       NP_001243591             319 aa            linear   PRI 17-MAR-2023
DEFINITION  transcriptional enhancer factor TEF-4 isoform 4 [Homo sapiens].
ACCESSION   NP_001243591
VERSION     NP_001243591.1
DBSOURCE    REFSEQ: accession NM_001256662.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 319)
  AUTHORS   Goos H, Kinnunen M, Salokas K, Tan Z, Liu X, Yadav L, Zhang Q, Wei
            GH and Varjosalo M.
  TITLE     Human transcription factor protein interaction networks
  JOURNAL   Nat Commun 13 (1), 766 (2022)
   PUBMED   35140242
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 319)
  AUTHORS   Joo JS, Cho SY, Rou WS, Kim JS, Kang SH, Lee ES, Moon HS, Kim SH,
            Sung JK, Kwon IS, Eun HS and Lee BS.
  TITLE     TEAD2 as a novel prognostic factor for hepatocellular carcinoma
  JOURNAL   Oncol Rep 43 (6), 1785-1796 (2020)
   PUBMED   32323824
  REMARK    GeneRIF: TEAD2 as a novel prognostic factor for hepatocellular
            carcinoma.
REFERENCE   3  (residues 1 to 319)
  AUTHORS   Lucas TG, Henriques BJ and Gomes CM.
  TITLE     Conformational analysis of the riboflavin-responsive
            ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA
            dehydrogenase deficiency
  JOURNAL   Biochim Biophys Acta Proteins Proteom 1868 (6), 140393 (2020)
   PUBMED   32087359
  REMARK    GeneRIF: Multiple-CoA dehydrogenase deficiency (MADD) is an inborn
            disorder of fatty acid and amino acid metabolism caused by
            mutations in the genes encoding for human electron transfer
            flavoprotein (ETF) and its partner electron transfer
            flavoprotein:ubiquinone oxidoreductase (ETF:QO). Conformational
            analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant
            associated with mild multiple acyl-CoA dehydrogenase deficiency.
REFERENCE   4  (residues 1 to 319)
  AUTHORS   Wang Y, Li F, Ma D, Gao Y, Li R and Gao Y.
  TITLE     MicroRNA-608 sensitizes non-small cell lung cancer cells to
            cisplatin by targeting TEAD2
  JOURNAL   Mol Med Rep 20 (4), 3519-3526 (2019)
   PUBMED   31485614
  REMARK    GeneRIF: the increased cisplatin sensitivity induced by miR608
            overexpression was reversed by transfection of TEAD2 in nonsmall
            cell lung cancer (NSCLC) cells. The present data suggested that
            miR608 may represent a novel candidate biomarker for the evaluation
            of cisplatin sensitivity in patients with NSCLC.
REFERENCE   5  (residues 1 to 319)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (residues 1 to 319)
  AUTHORS   Zhang H, Liu CY, Zha ZY, Zhao B, Yao J, Zhao S, Xiong Y, Lei QY and
            Guan KL.
  TITLE     TEAD transcription factors mediate the function of TAZ in cell
            growth and epithelial-mesenchymal transition
  JOURNAL   J Biol Chem 284 (20), 13355-13362 (2009)
   PUBMED   19324877
  REMARK    Erratum:[J Biol Chem. 2019 Apr 12;294(15):5808. PMID: 30979850]
REFERENCE   7  (residues 1 to 319)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   8  (residues 1 to 319)
  AUTHORS   Zhao B, Ye X, Yu J, Li L, Li W, Li S, Yu J, Lin JD, Wang CY,
            Chinnaiyan AM, Lai ZC and Guan KL.
  TITLE     TEAD mediates YAP-dependent gene induction and growth control
  JOURNAL   Genes Dev 22 (14), 1962-1971 (2008)
   PUBMED   18579750
REFERENCE   9  (residues 1 to 319)
  AUTHORS   Jacquemin P, Depetris D, Mattei MG, Martial JA and Davidson I.
  TITLE     Localization of human transcription factor TEF-4 and TEF-5 (TEAD2,
            TEAD3) genes to chromosomes 19q13.3 and 6p21.2 using fluorescence
            in situ hybridization and radiation hybrid analysis
  JOURNAL   Genomics 55 (1), 127-129 (1999)
   PUBMED   9889009
REFERENCE   10 (residues 1 to 319)
  AUTHORS   Jacquemin P, Hwang JJ, Martial JA, Dolle P and Davidson I.
  TITLE     A novel family of developmentally regulated mammalian transcription
            factors containing the TEA/ATTS DNA binding domain
  JOURNAL   J Biol Chem 271 (36), 21775-21785 (1996)
   PUBMED   8702974
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK300241.1 and BC007556.1.
            
            Transcript Variant: This variant (6) differs in the 5' UTR and has
            multiple differences in the coding region, including the use of a
            downstream, in-frame start codon, compared to variant 1. The
            encoded isoform (4) has a shorter N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK300241.1, SRR14038191.712724.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..319
                     /product="transcriptional enhancer factor TEF-4 isoform 4"
                     /note="transcriptional enhancer factor TEF-4; TEA domain
                     family member 2"
                     /calculated_mol_wt=35272
     Region          99..316
                     /region_name="YBD"
                     /note="YAP binding domain; pfam17725"
                     /db_xref="CDD:435993"
     CDS             1..319
                     /gene="TEAD2"
                     /gene_synonym="ETF; TEAD-2; TEF-4; TEF4"
                     /coded_by="NM_001256662.2:218..1177"
                     /note="isoform 4 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS58670.1"
                     /db_xref="GeneID:8463"
                     /db_xref="HGNC:HGNC:11715"
                     /db_xref="MIM:601729"
ORIGIN      
        1 matmssaqli sapslqaklg ptgpqvvqas elfqfwsggs gppwnvpdvk pfsqtpftls
       61 ltppstdlpg yeppqalspl ppptpsppaw qarglgtarl qlvefsafve ppdavdsyqr
      121 hlfvhisqhc pspgapples vdvrqiydkf pekkgglrel ydrgpphaff lvkfwadlnw
      181 gpsgeeagag gsissggfyg vssqyesleh mtltcsskvc sfgkqvvekv eteraqledg
      241 rfvyrllrsp mceylvnflh klrqlperym mnsvlenfti lqvvtnrdtq elllctayvf
      301 evstsergaq hhiyrlvrd
//
LOCUS       NP_001287725             128 aa            linear   PRI 19-MAR-2023
DEFINITION  GTP-binding nuclear protein Ran isoform 2 [Homo sapiens].
ACCESSION   NP_001287725
VERSION     NP_001287725.1
DBSOURCE    REFSEQ: accession NM_001300796.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 128)
  AUTHORS   El-Tanani M, Platt-Higgins A, Lee YF, Al Khatib AO, Haggag Y,
            Sutherland M, Zhang SD, Aljabali AAA, Mishra V, Serrano-Aroca A,
            Tambuwala MM and Rudland PS.
  TITLE     Matrix metalloproteinase 2 is a target of the RAN-GTP pathway and
            mediates migration, invasion and metastasis in human breast cancer
  JOURNAL   Life Sci 310, 121046 (2022)
   PUBMED   36209829
  REMARK    GeneRIF: Matrix metalloproteinase 2 is a target of the RAN-GTP
            pathway and mediates migration, invasion and metastasis in human
            breast cancer.
REFERENCE   2  (residues 1 to 128)
  AUTHORS   Zhang Y, Glineburg MR, Basrur V, Conlon K, Wright SE, Krans A, Hall
            DA and Todd PK.
  TITLE     Mechanistic convergence across initiation sites for RAN translation
            in fragile X associated tremor ataxia syndrome
  JOURNAL   Hum Mol Genet 31 (14), 2317-2332 (2022)
   PUBMED   35137065
  REMARK    GeneRIF: Mechanistic convergence across initiation sites for RAN
            translation in fragile X associated tremor ataxia syndrome.
REFERENCE   3  (residues 1 to 128)
  AUTHORS   Liu X, Chen J, Long X, Lan J, Liu X, Zhou M, Zhang S and Zhou J.
  TITLE     RSL1D1 promotes the progression of colorectal cancer through
            RAN-mediated autophagy suppression
  JOURNAL   Cell Death Dis 13 (1), 43 (2022)
   PUBMED   35013134
  REMARK    GeneRIF: RSL1D1 promotes the progression of colorectal cancer
            through RAN-mediated autophagy suppression.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 128)
  AUTHORS   Gao C, Sun J, Zhang Z and Xu Z.
  TITLE     NEAT1 Boosts the Development of Thoracic Aortic Aneurysm Through
            Targeting miR-324-5p/RAN
  JOURNAL   Arch Med Res 53 (1), 93-99 (2022)
   PUBMED   34373133
  REMARK    GeneRIF: NEAT1 Boosts the Development of Thoracic Aortic Aneurysm
            Through Targeting miR-324-5p/RAN.
REFERENCE   5  (residues 1 to 128)
  AUTHORS   Che X, Liu M, Li D, Li Z, Guo J and Jia R.
  TITLE     RAN and YBX1 are required for cell proliferation and IL-4
            expression and linked to poor prognosis in oral squamous cell
            carcinoma
  JOURNAL   Exp Cell Res 406 (2), 112767 (2021)
   PUBMED   34364882
  REMARK    GeneRIF: RAN and YBX1 are required for cell proliferation and IL-4
            expression and linked to poor prognosis in oral squamous cell
            carcinoma.
REFERENCE   6  (residues 1 to 128)
  AUTHORS   Yokoyama N, Hayashi N, Seki T, Pante N, Ohba T, Nishii K, Kuma K,
            Hayashida T, Miyata T, Aebi U et al.
  TITLE     A giant nucleopore protein that binds Ran/TC4
  JOURNAL   Nature 376 (6536), 184-188 (1995)
   PUBMED   7603572
REFERENCE   7  (residues 1 to 128)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   8  (residues 1 to 128)
  AUTHORS   Bischoff FR and Ponstingl H.
  TITLE     Mitotic regulator protein RCC1 is complexed with a nuclear
            ras-related polypeptide
  JOURNAL   Proc Natl Acad Sci U S A 88 (23), 10830-10834 (1991)
   PUBMED   1961752
REFERENCE   9  (residues 1 to 128)
  AUTHORS   Matsumoto T and Beach D.
  TITLE     Premature initiation of mitosis in yeast lacking RCC1 or an
            interacting GTPase
  JOURNAL   Cell 66 (2), 347-360 (1991)
   PUBMED   1855255
REFERENCE   10 (residues 1 to 128)
  AUTHORS   Drivas GT, Shih A, Coutavas E, Rush MG and D'Eustachio P.
  TITLE     Characterization of four novel ras-like genes expressed in a human
            teratocarcinoma cell line
  JOURNAL   Mol Cell Biol 10 (4), 1793-1798 (1990)
   PUBMED   2108320
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK316193.1, AF054183.1 and AC073912.38.
            
            Summary: RAN (ras-related nuclear protein) is a small GTP binding
            protein belonging to the RAS superfamily that is essential for the
            translocation of RNA and proteins through the nuclear pore complex.
            The RAN protein is also involved in control of DNA synthesis and
            cell cycle progression. Nuclear localization of RAN requires the
            presence of regulator of chromosome condensation 1 (RCC1).
            Mutations in RAN disrupt DNA synthesis. Because of its many
            functions, it is likely that RAN interacts with several other
            proteins. RAN regulates formation and organization of the
            microtubule network independently of its role in the
            nucleus-cytosol exchange of macromolecules. RAN could be a key
            signaling molecule regulating microtubule polymerization during
            mitosis. RCC1 generates a high local concentration of RAN-GTP
            around chromatin which, in turn, induces the local nucleation of
            microtubules.  RAN is an androgen receptor (AR) coactivator that
            binds differentially with different lengths of polyglutamine within
            the androgen receptor. Polyglutamine repeat expansion in the AR is
            linked to Kennedy's disease (X-linked spinal and bulbar muscular
            atrophy). RAN coactivation of the AR diminishes with polyglutamine
            expansion within the AR, and this weak coactivation may lead to
            partial androgen insensitivity during the development of Kennedy's
            disease. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream start codon, compared to variant 1. The resulting
            isoform (2) has a shorter N-terminus, compared to isoform 1.
            Variants 2 and 3 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK316193.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145245, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..128
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     Protein         1..128
                     /product="GTP-binding nuclear protein Ran isoform 2"
                     /note="GTP-binding nuclear protein Ran; guanosine
                     triphosphatase Ran; RanGTPase; member RAS oncogene family;
                     GTPase Ran; ras-like protein TC4; ras-related nuclear
                     protein; androgen receptor-associated protein 24"
                     /calculated_mol_wt=14600
     Region          <1..127
                     /region_name="RAN"
                     /note="Ran (Ras-related nuclear proteins) /TC4 subfamily
                     of small GTPases; smart00176"
                     /db_xref="CDD:128473"
     CDS             1..128
                     /gene="RAN"
                     /gene_synonym="ARA24; Gsp1; TC4"
                     /coded_by="NM_001300796.2:282..668"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS73546.1"
                     /db_xref="GeneID:5901"
                     /db_xref="HGNC:HGNC:9846"
                     /db_xref="MIM:601179"
ORIGIN      
        1 mfdvtsrvty knvpnwhrdl vrvcenipiv lcgnkvdikd rkvkaksivf hrkknlqyyd
       61 isaksnynfe kpflwlarkl igdpnlefva mpalappevv mdpalaaqye hdlevaqtta
      121 lpdedddl
//
LOCUS       NP_001182183             288 aa            linear   PRI 19-MAR-2023
DEFINITION  aprataxin isoform h [Homo sapiens].
ACCESSION   NP_001182183
VERSION     NP_001182183.1
DBSOURCE    REFSEQ: accession NM_001195254.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 288)
  AUTHORS   Ababneh NA, Al-Kurdi B, Ali D, Abuarqoub D, Barham R, Alzibdeh AM,
            Khanfar AN, Altantawi AM, Ryalat AT, Sharrack B and Awidi A.
  TITLE     Generation and characterization of induced pluripotent stem cell
            (iPSC) line (JUCTCi002-A) from a patient with ataxia with
            oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in
            the APTX gene
  JOURNAL   Stem Cell Res 48, 101925 (2020)
   PUBMED   32769066
  REMARK    GeneRIF: Generation and characterization of induced pluripotent
            stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with
            oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in
            the APTX gene.
REFERENCE   2  (residues 1 to 288)
  AUTHORS   Ababneh NA, Ali D, Al-Kurdi B, Sallam M, Alzibdeh AM, Salah B,
            Ryalat AT, Azab B, Sharrack B and Awidi A.
  TITLE     Identification of APTX disease-causing mutation in two unrelated
            Jordanian families with cerebellar ataxia and sensitivity to DNA
            damaging agents
  JOURNAL   PLoS One 15 (8), e0236808 (2020)
   PUBMED   32750061
  REMARK    GeneRIF: Identification of APTX disease-causing mutation in two
            unrelated Jordanian families with cerebellar ataxia and sensitivity
            to DNA damaging agents.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 288)
  AUTHORS   Hirano M, Nishiwaki T, Kariya S, Furiya Y, Kawahara M and Ueno S.
  TITLE     Novel splice variants increase molecular diversity of aprataxin,
            the gene responsible for early-onset ataxia with ocular motor
            apraxia and hypoalbuminemia
  JOURNAL   Neurosci Lett 366 (2), 120-125 (2004)
   PUBMED   15276230
REFERENCE   4  (residues 1 to 288)
  AUTHORS   Shimazaki H, Takiyama Y, Sakoe K, Ikeguchi K, Niijima K, Kaneko J,
            Namekawa M, Ogawa T, Date H, Tsuji S, Nakano I and Nishizawa M.
  TITLE     Early-onset ataxia with ocular motor apraxia and hypoalbuminemia:
            the aprataxin gene mutations
  JOURNAL   Neurology 59 (4), 590-595 (2002)
   PUBMED   12196655
REFERENCE   5  (residues 1 to 288)
  AUTHORS   Brenner C.
  TITLE     Hint, Fhit, and GalT: function, structure, evolution, and mechanism
            of three branches of the histidine triad superfamily of nucleotide
            hydrolases and transferases
  JOURNAL   Biochemistry 41 (29), 9003-9014 (2002)
   PUBMED   12119013
REFERENCE   6  (residues 1 to 288)
  AUTHORS   Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T,
            Mendonca P, Costa M, Barros J, Yanagisawa T, Watanabe M, Ikeda Y,
            Aoki M, Nagata T, Coutinho P, Sequeiros J and Koenig M.
  TITLE     The gene mutated in ataxia-ocular apraxia 1 encodes the new
            HIT/Zn-finger protein aprataxin
  JOURNAL   Nat Genet 29 (2), 189-193 (2001)
   PUBMED   11586300
REFERENCE   7  (residues 1 to 288)
  AUTHORS   Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, Igarashi S,
            Koike R, Hiroi T, Yuasa T, Awaya Y, Sakai T, Takahashi T, Nagatomo
            H, Sekijima Y, Kawachi I, Takiyama Y, Nishizawa M, Fukuhara N,
            Saito K, Sugano S and Tsuji S.
  TITLE     Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is
            caused by mutations in a new HIT superfamily gene
  JOURNAL   Nat Genet 29 (2), 184-188 (2001)
   PUBMED   11586299
REFERENCE   8  (residues 1 to 288)
  AUTHORS   Moreira MC, Barbot C, Tachi N, Kozuka N, Mendonca P, Barros J,
            Coutinho P, Sequeiros J and Koenig M.
  TITLE     Homozygosity mapping of Portuguese and Japanese forms of
            ataxia-oculomotor apraxia to 9p13, and evidence for genetic
            heterogeneity
  JOURNAL   Am J Hum Genet 68 (2), 501-508 (2001)
   PUBMED   11170899
REFERENCE   9  (residues 1 to 288)
  AUTHORS   Coutinho,P., Barbot,C. and Coutinho,P.
  TITLE     Ataxia with Oculomotor Apraxia Type 1
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301629
REFERENCE   10 (residues 1 to 288)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162590.15, DB042208.1,
            AY208833.1, AL353717.13 and AA494365.1.
            
            Summary: This gene encodes a member of the histidine triad (HIT)
            superfamily. The encoded protein may play a role in single-stranded
            DNA repair through its nucleotide-binding activity and its
            diadenosine polyphosphate hydrolase activity. Mutations in this
            gene have been associated with ataxia-ocular apraxia. Alternatively
            spliced transcript variants have been identified for this
            gene.[provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (10) differs in the 5' UTR and has
            multiple differences in the coding region but maintains the reading
            frame, compared to variant 1. This variant encodes isoform h, which
            is shorter than isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2823266.1,
                                           SRR14038196.3276072.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467147 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..288
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.1"
     Protein         1..288
                     /product="aprataxin isoform h"
                     /EC_number="3.6.1.72"
                     /EC_number="3.6.1.71"
                     /note="forkhead-associated domain histidine triad-like
                     protein"
                     /calculated_mol_wt=32994
     Region          3..>44
                     /region_name="FHA"
                     /note="forkhead associated (FHA) domain superfamily;
                     cl00062"
                     /db_xref="CDD:444676"
     Region          110..211
                     /region_name="aprataxin_related"
                     /note="aprataxin related: Aprataxin, a HINT family
                     hydrolase is mutated in ataxia oculomotor apraxia
                     syndrome. All the members of this subgroup have the
                     conserved HxHxHxx (where x is a hydrophobic residue)
                     signature motif. Members of this subgroup are...; cd01278"
                     /db_xref="CDD:238609"
     Site            order(204,206,208..210)
                     /site_type="active"
                     /note="HIT family signature motif [active]"
                     /db_xref="CDD:238609"
     Site            206
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:238609"
     Region          229..288
                     /region_name="zf-C2HE"
                     /note="C2HE / C2H2 / C2HC zinc-binding finger; pfam16278"
                     /db_xref="CDD:435254"
     CDS             1..288
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /coded_by="NM_001195254.2:118..984"
                     /note="isoform h is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS75827.1"
                     /db_xref="GeneID:54840"
                     /db_xref="HGNC:HGNC:15984"
                     /db_xref="MIM:606350"
ORIGIN      
        1 mmrvcwlvrq dsrhqrirlp hleavvigrg petkitdkkc srqqefeeea knpglethrk
       61 rkrsgnsdsi erdaaqeaea gtglepgsns gqcsvplkkg kdapikkesl ghwsqglkis
      121 mqdpkmqvyk deqvvvikdk ypkaryhwlv lpwtsisslk avarehlell khmhtvgekv
      181 ivdfagsskl rfrlgyhaip smshvhlhvi sqdfdspclk nkkhwnsfnt eyflesqavi
      241 emvqeagrvt vrdgmpellk lplrchecqq llpsipqlke hlrkhwtq
//
LOCUS       XP_016858029             209 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein regulatory complex protein 8 isoform X4 [Homo sapiens].
ACCESSION   XP_016858029
VERSION     XP_016858029.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002540.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_016858029.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..209
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..209
                     /product="dynein regulatory complex protein 8 isoform X4"
                     /calculated_mol_wt=24056
     Region          79..>194
                     /region_name="PTZ00184"
                     /note="calmodulin; Provisional"
                     /db_xref="CDD:185504"
     CDS             1..209
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
                     /coded_by="XM_017002540.2:906..1535"
                     /db_xref="GeneID:84288"
                     /db_xref="HGNC:HGNC:28166"
                     /db_xref="MIM:619617"
ORIGIN      
        1 mtveshkrkd nfegcvqypl sskrsgtisd llilsvvqsa wnvglgynsd eirprtllie
       61 hlmeggrrdh htmtvlwgtq eiivaefhkk ikeafevfdh esnntvdvre igtiirslgc
      121 cptegelhdl iaeveeeept gyirfekflp vmteillerk yrpipedvll rafevldsak
      181 rgfltkdeli kymteedpef qqnsrhqpv
//
LOCUS       XP_016858271             946 aa            linear   PRI 20-MAR-2023
DEFINITION  SPOC domain-containing protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_016858271
VERSION     XP_016858271.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002782.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..946
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..946
                     /product="SPOC domain-containing protein 1 isoform X4"
                     /calculated_mol_wt=102440
     Region          351..461
                     /region_name="TFIIS_M"
                     /note="Transcription factor S-II (TFIIS), central domain;
                     pfam07500"
                     /db_xref="CDD:429495"
     Region          609..746
                     /region_name="SPOC_SPOCD1"
                     /note="SPOC (Spen paralog and ortholog C-terminal) domain
                     found in SPOC domain-containing protein 1 (SPOCD1) and
                     similar proteins; cd21540"
                     /db_xref="CDD:439203"
     CDS             1..946
                     /gene="SPOCD1"
                     /gene_synonym="PPP1R146"
                     /coded_by="XM_017002782.2:40..2880"
                     /db_xref="GeneID:90853"
                     /db_xref="HGNC:HGNC:26338"
                     /db_xref="MIM:619038"
ORIGIN      
        1 msqagdvegp stgdpvlspq hncellqnme gassmpglsp dgpgassgpg vragsrrkip
       61 rkealrggss raagaaevrp gvlellavvq srgsmlapgl hmqlpsvptq graltskrlq
      121 vslcdildds cprklcsrsa glperalacr erlagveevs clrpreardg gmsspgcdrr
      181 sptlskeepp grpltsspdp vpvreevkip hgvklvcylg sgpviqllga ishgqaggql
      241 ppklevledl mevsspspaq rlrrkkrpmv qgpagcqvfq pspsggtagd pgglsdpfyp
      301 prsgslalgd pssdpacsqs gpmeaeedsl peqpedsaql qqekpslyig vrgtvvrsmq
      361 evlwtrlrel pdpvlseevv egiaagieaa lwdltqgtng ryktkyrsll fnlrdprnld
      421 lflkvvhgdv tpydlvrmss mqlapqelar wrdqeekrgl niieqqqkep crlpaskmth
      481 kgeveiqrdm dqtltledlv gpqmfmdcsp qalpiasedt tgqhdhhfld pnchickdwe
      541 psnellgsfe aakscgdnif qkalsqtpmp apempktrel sptepqdrvp psglhvpaap
      601 tkalpclppw egvldmfsik rfraraqlvs ghscrlvqal ptvirsagci psnivwdlla
      661 sicpakakdv cvvrlcphga rdtqncrlly sylndrqrhg lasvehmgmv llplpafqpl
      721 ptrlrplggp glevthssll lavllpkegl pdtagsspwl gkvqkmvsfn skvekryyqp
      781 ddrrpnvplk gtpppggawq qsqgrgsiap rgisawqrpp rgrgrlwpep enwqhpgrgq
      841 wppepglrqs qhpysvapag hgfgrgqhfh rdscphqall rhleslatms hqlqallcpq
      901 tkssiprplq rlssalaape ppgpardssl gptdeagsec pfprka
//
LOCUS       XP_011538569             177 aa            linear   PRI 20-MAR-2023
DEFINITION  DPY30 domain-containing protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_011538569
VERSION     XP_011538569.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011540267.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..177
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..177
                     /product="DPY30 domain-containing protein 2 isoform X1"
                     /calculated_mol_wt=20455
     Region          2..45
                     /region_name="DD_DYDC-like"
                     /note="dimerization/docking (D/D) domain found in the
                     DPY30 domain-containing protein (DYDC)-like family;
                     cd22966"
                     /db_xref="CDD:438535"
     CDS             1..177
                     /gene="DYDC2"
                     /coded_by="XM_011540267.2:40..573"
                     /db_xref="GeneID:84332"
                     /db_xref="HGNC:HGNC:23468"
ORIGIN      
        1 metnylkrcf gnclaqalae vakvrpsdpi eylahwlyhy rktakakeen rekkihlqee
       61 ydsslkemem temlkqeeyq iqqncekchk eltsetvstk ktifmqedtn plekealkqe
      121 flpgtsslip gmpqqvppse sagqidqnfk mpqeinykea fqhevahemp pgskspf
//
LOCUS       XP_047283447            2390 aa            linear   PRI 20-MAR-2023
DEFINITION  spectrin beta chain, non-erythrocytic 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047283447
VERSION     XP_047283447.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427491.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2390
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..2390
                     /product="spectrin beta chain, non-erythrocytic 2 isoform
                     X1"
                     /calculated_mol_wt=271195
     Region          43..159
                     /region_name="CH_SPTB-like_rpt1"
                     /note="first calponin homology (CH) domain found in the
                     beta-I spectrin-like subfamily; cd21246"
                     /db_xref="CDD:409095"
     Site            order(44,47..48,51..52,55..56,59,113,116..117,120,127,
                     132..140,147..148,150..151,154..155,158..159)
                     /site_type="other"
                     /note="actin binding site [polypeptide binding]"
                     /db_xref="CDD:409095"
     Region          173..291
                     /region_name="CH_SPTBN2_rpt2"
                     /note="second calponin homology (CH) domain found in
                     spectrin beta chain, non-erythrocytic 2 (SPTBN2) and
                     similar proteins; cd21321"
                     /db_xref="CDD:409170"
     Site            order(178,182,232,234..235,238,245,250..258,267..268,
                     270..271,274..275,278)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409170"
     Region          305..414
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Site            416..421
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          429..522
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Region          534..746
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            640..645
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          749..958
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            851..856
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          961..1172
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1064..1069
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1174..1383
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1277..1282
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1384..1588
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1487..1492
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1589..1801
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1693..1698
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1802..2010
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            1906..1911
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          2018..>2075
                     /region_name="SPEC"
                     /note="Spectrin repeats; smart00150"
                     /db_xref="CDD:197544"
     Region          <2097..>2241
                     /region_name="dnaA"
                     /note="chromosomal replication initiator protein DnaA;
                     cl42516"
                     /db_xref="CDD:455861"
     Region          2221..2324
                     /region_name="PH_beta_spectrin"
                     /note="Beta-spectrin pleckstrin homology (PH) domain;
                     cd10571"
                     /db_xref="CDD:269975"
     Site            order(2228,2241..2243,2289)
                     /site_type="other"
                     /note="non-cannonical phosphoinositide binding site
                     [chemical binding]"
                     /db_xref="CDD:269975"
     CDS             1..2390
                     /gene="SPTBN2"
                     /gene_synonym="GTRAP41; SCA5; SCAR14"
                     /coded_by="XM_047427491.1:335..7507"
                     /db_xref="GeneID:6712"
                     /db_xref="HGNC:HGNC:11276"
                     /db_xref="MIM:604985"
ORIGIN      
        1 msstlsptdf dsleiqgqys dinnrwdlpd sdwdndsssa rlfersrika ladereavqk
       61 ktftkwvnsh larvtcrvgd lysdlrdgrn llrllevlsg eilpkptkgr mrihclenvd
      121 kalqflkeqk vhlenmgshd ivdgnhrltl glvwtiilrf qiqdisvete dnkekksakd
      181 alllwcqmkt agypnvnvhn fttswrdgla fnaivhkhrp dlldfeslkk cnahynlqna
      241 fnlaekelgl tklldpedvn vdqpdeksii tyvatyyhyf skmkalaveg krigkvldha
      301 meaerlveky eslasellqw ieqtivtlnd rqlanslsgv qnqlqsfnsy rtvekppkft
      361 ekgnlevllf tiqsklrann qkvytpregr lisdinkawe rlekaehere lalrtelirq
      421 ekleqlaarf drkaamretw lsenqrlvsq dnfglelaav eaavrkheai etdivaysgr
      481 vqavdavaae laaeryhdik riaarqhnva rlwdflrqmv aarrerllln lelqkvfqdl
      541 lylmdwmeem kgrlqsqdlg rhlagvedll qlhelveadi avqaervrav sasalrfcnp
      601 gkeyrpcdpq lvservakle qsyealcela aarrarlees rrlwrflwev geaeawvreq
      661 qhllasadtg rdltgalrll nkhtalrgem sgrlgplklt leqgqqlvae ghpgasqasa
      721 raaelqaqwe rlealaeera qrlaqaasly qfqadandme awlvdalrlv sspelghdef
      781 stqalarqhr aleeeirshr ptldalreqa aalpptlsrt pevqsrvptl erhyeelqar
      841 ageraralea alalytmlse agacglwvee keqwlnglal perledlevv qqrfetlepe
      901 mntlaaqita vndiaeqllk anppgkdriv ntqeqlnhrw qqfrrladgk kaaltsalsi
      961 qnyhlectet qawmrektkv iestqglgnd lagvlalqrk lagterdlea iaarvgeltr
     1021 eanalaaghp aqavainarl revqtgwedl ratmrrrees lgearrlqdf lrslddfqaw
     1081 lgrtqtavas eegpatlpea eallaqhaal rgeveraqse ysrlralgee vtrdqadpqc
     1141 lflrqrleal gtgweelgrm wesrqgrlaq ahgfqgflrd arqaegvlss qeyvlshtem
     1201 pgtlqaadaa ikkledfmst mdangerihg lleagrqlvs egnihadkir ekadsierrh
     1261 kknqdaaqqf lgrlrdnreq qhflqdchel klwidekmlt aqdvsydear nlhtkwqkhq
     1321 afmaelaank dwldkvdkeg reltlekpel kalvseklrd lhrrwdelet ttqakarslf
     1381 danraelfaq sccaleswle slqaqlhsdd ygkdltsvni llkkqqmlew emavrekeve
     1441 aiqaqakala qedqgageve rtsraveekf ralcqpmrer crrlqasreq hqfhrdvede
     1501 ilwvterlpm assmehgkdl psvqllmkkn qtlqkeiqgh epriadlrer qralgaaaag
     1561 pelaelqemw krlghelelr gkrledalra qqfyrdaaea eawmgeqelh mmgqekakde
     1621 lsaqaevkkh qvleqalady aqtihqlaas sqdmidhehp estrisirqa qvdklyaglk
     1681 elagerrerl qehlrlcqlr relddleqwi qerevvaash elgqdyehvt mlrdkfrefs
     1741 rdtstigqer vdsanalang liagghaara tvaewkdsln eawadllell dtrgqvlaaa
     1801 yelqrflhga rqalarvqhk qqqlpdgtgr dlnaaealqr rhcayehdiq alspqvqqvq
     1861 ddghrlqkay agdkaeeigr hmqavaeawa qlqgssaarr qllldttdkf rffkavrelm
     1921 lwmdevnlqm daqerprdvs sadlviknqq gikaeieara drfsscidmg kellarshya
     1981 aeeiseklsq lqarrqetae kwqekmdwlq lvlevlvfgr dagmaeawlc sqeplvrsae
     2041 lgctvdeves likrheafqk savaweerfc alekltalee rekerkrkre eeerrkqppa
     2101 peptasvppg dlvggqtasd ttwdgtqprp ppstqapsvn gvctdgepsq pllgqqrleh
     2161 ssfpegpgpg sgdeangprg erqtrtrgpa psampqsrst esahaatlpp rgpepsaqeq
     2221 megmlcrkqe meafgkkaan rswqnvycvl rrgslgfykd akaasagvpy hgevpvslar
     2281 aqgsvafdyr krkhvfklgl qdgkeylfqa kdeaemsswl rvvnaaiata ssasgepeep
     2341 vvpsttrgmt ramtmppvsp vgaegpvvlr skdgrerere krfsffkknk
//
LOCUS       XP_024304679             685 aa            linear   PRI 20-MAR-2023
DEFINITION  V-type proton ATPase 116 kDa subunit a 2 isoform X2 [Homo sapiens].
ACCESSION   XP_024304679
VERSION     XP_024304679.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024448911.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..685
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..685
                     /product="V-type proton ATPase 116 kDa subunit a 2 isoform
                     X2"
                     /calculated_mol_wt=78279
     Region          1..671
                     /region_name="V_ATPase_I"
                     /note="V-type ATPase 116kDa subunit family; pfam01496"
                     /db_xref="CDD:426290"
     CDS             1..685
                     /gene="ATP6V0A2"
                     /gene_synonym="A2; a2V; ARCL; ARCL2A; ATP6A2; ATP6N1D;
                     J6B7; RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
                     /coded_by="XM_024448911.2:102..2159"
                     /db_xref="GeneID:23545"
                     /db_xref="HGNC:HGNC:18481"
                     /db_xref="MIM:611716"
ORIGIN      
        1 mlrfvsglin qgkveafekm lwrvckgyti vsyaeldesl edpetgevik wyvflisfwg
       61 eqighkvkki cdcyhchvyp ypntaeerre iqeglntriq dlytvlhkte dylrqvlcka
      121 aesvysrviq vkkmkaiyhm lnmcsfdvtn kcliaevwcp eadlqdlrra leegsresga
      181 tipsfmniip tketpptrir tnkftegfqn ivdaygvgsy revnpalfti itfpflfavm
      241 fgdfghgfvm flfalllvln enhprlnqsq eimrmffngr yilllmglfs vytgliyndc
      301 fsksvnlfgs gwnvsamyss shppaehkkm vlwndsvvrh nsilqldpsi pgvfrgpypl
      361 gidpiwnlat nrltflnsfk mkmsvilgii hmtfgvilgi fnhlhfrkkf niylvsipel
      421 lfmlcifgyl ifmifykwlv fsaetsrvap siliefinmf lfpasktsgl ytgqeyvqrv
      481 llvvtalsvp vlflgkplfl lwlhngrscf gvnrsgytli rkdseeevsl lgsqdieegn
      541 hqvedgcrem aceefnfgei lmtqvihsie yclgcisnta sylrlwalsl ahaqlsdvlw
      601 amlmrvglrv dttygvllll pvialfavlt ifillimegl saflhairlh wvefqnkfyv
      661 gagtkfvpfs fsllsskfnn ddsva
//
LOCUS       XP_047293846             261 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 397 isoform X3 [Homo sapiens].
ACCESSION   XP_047293846
VERSION     XP_047293846.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437890.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..261
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..261
                     /product="zinc finger protein 397 isoform X3"
                     /calculated_mol_wt=30006
     Region          <5..254
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          14..34
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(14,17,30,34)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          42..62
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          70..90
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(70,73,86,90)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          98..118
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(98,101,114,118)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          126..146
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(126,129,142,146)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(131,133,135,137..138,141..142,145,159,161,165..166,
                     169..170,173,187,189,191,193..194,197..198,201)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          154..174
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          182..202
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          210..230
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          238..258
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..261
                     /gene="ZNF397"
                     /gene_synonym="ZNF47; ZSCAN15"
                     /coded_by="XM_047437890.1:482..1267"
                     /db_xref="GeneID:84307"
                     /db_xref="HGNC:HGNC:18818"
                     /db_xref="MIM:609601"
ORIGIN      
        1 mcqkvppeer pyrcdvcghs fkqhssltqh qrihtgekpy kcnqcgkafs lrsyliihqr
       61 ihsgekayec secgkafnqs salirhrkih tgekackcne cgkafsqssy liihqrihtg
      121 ekpyecnecg ktfsqsskli rhqrihtger pyecnecgka frqsselith qrihsgekpy
      181 ecsecgkafs lssnlirhqr ihsgeepyqc necgktfkrs salvqhqrih sgdeayicne
      241 cgkafrhrsv lmrhqrvhti k
//
LOCUS       XP_047294680             754 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor E2 isoform X9 [Homo sapiens].
ACCESSION   XP_047294680
VERSION     XP_047294680.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438724.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..754
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..754
                     /product="adhesion G protein-coupled receptor E2 isoform
                     X9"
                     /calculated_mol_wt=82942
     Region          67..99
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(67,70,87)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          119..154
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(119,122,138)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          163..194
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(163,166,182)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          186..215
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          212..243
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Site            order(212,215,231)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          464..726
                     /region_name="7tmB2_EMR"
                     /note="epidermal growth factor-like module-containing
                     mucin-like hormone receptors, member of the class B2
                     family of seven-transmembrane G protein-coupled receptors;
                     cd15439"
                     /db_xref="CDD:320555"
     Region          466..491
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320555"
     Site            order(471,475,517,520..521,524,531,538,615..616,618,620,
                     676,679,691,695)
                     /site_type="other"
                     /note="putative polypeptide ligand binding pocket
                     [polypeptide binding]"
                     /db_xref="CDD:320555"
     Region          500..522
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320555"
     Region          531..558
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320555"
     Region          575..595
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320555"
     Region          612..635
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320555"
     Region          659..684
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320555"
     Region          688..713
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320555"
     CDS             1..754
                     /gene="ADGRE2"
                     /gene_synonym="CD312; CD97; EMR2; VBU"
                     /coded_by="XM_047438724.1:172..2436"
                     /db_xref="GeneID:30817"
                     /db_xref="HGNC:HGNC:3337"
                     /db_xref="MIM:606100"
ORIGIN      
        1 mggrvflvfl afcvwltlpg aetqdsrgca rwcpqdsscv natacrcnpg fssfseiitt
       61 pmetcddine catlskvscg kfsdcwnteg sydcvcspgy epvsgaktfk nesentcqdv
      121 decqqnprlc ksygtcvntl gsytcqclpg fklkpedpkl ctdvnectsg qnpchssthc
      181 lnnvgsyqcr crpgwqpipg spngpnntvc edvdecssgq hqcdsstvcf ntvgsyscrc
      241 rpgwkprhgi pnnqkdtvce dmtfstwtpp pgvhsqtlsr ffdkvqdlgr dykpglannt
      301 iqsilqalde lleapgdlet lprlqqhcva shlldgledv lrglsknlsn gllnfsypag
      361 telslevqkq vdrsvtlrqn qavmqldwnq aqksgdpgmg kllaeaplvl epekqmllhe
      421 thqgllqdgs pillsdvisa flsnndtqnl sspvtftfsh reedpvltvi tymglsvsll
      481 clllaaltfl lckaiqntst slhlqlslcl flahllflva idqtghkvlc siiagtlhyl
      541 ylatltwmll ealylfltar nltvvnyssi nrfmkklmfp vgygvpavtv aisaasrphl
      601 ygtpsrcwlq pekgfiwgfl gpvcaifsvn lvlflvtlwi lknrlsslns evstlrntrm
      661 lafkataqlf ilgctwclgi lqvgpaarvm aylftiinsl qgvfiflvyc llsqqvreqy
      721 gkwskgirkl ktesemhtls ssakadtskp stvn
//
LOCUS       XP_011526587             459 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium-binding mitochondrial carrier protein SCaMC-3 isoform X18
            [Homo sapiens].
ACCESSION   XP_011526587
VERSION     XP_011526587.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011528285.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..459
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..459
                     /product="calcium-binding mitochondrial carrier protein
                     SCaMC-3 isoform X18"
                     /calculated_mol_wt=51075
     Region          7..143
                     /region_name="FRQ1"
                     /note="Ca2+-binding protein, EF-hand superfamily [Signal
                     transduction mechanisms]; COG5126"
                     /db_xref="CDD:227455"
     Region          232..319
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          364..455
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     CDS             1..459
                     /gene="SLC25A23"
                     /gene_synonym="APC2; MCSC2; SCaMC-3; SCAMC3"
                     /coded_by="XM_011528285.3:165..1544"
                     /db_xref="GeneID:79085"
                     /db_xref="HGNC:HGNC:19375"
                     /db_xref="MIM:608746"
ORIGIN      
        1 mrgspgdaer rqrwgrlfee ldsnkdgrvd vhelrqglar lgggnpdpga qqgissegda
       61 dpdggldlee fsrylqereq rlllmfhsld rnqdghidvs eiqqsfralg isisleqaek
      121 ilhsmdrdgt mtidwqewrd hfllhslenv edvlyfwkhs tlssagfsaw ikdstaeqnr
      181 skttvlarrs gshlksqhfg rpkwadhevl digecltvpd efskqekltg mwwkqlvaga
      241 vagavsrtgt apldrlkvfm qvhasktnrl nilgglrsmv leggirslwr gnginvlkia
      301 pesaikfmay eqikrailgq qetlhvqerf vagslagata qtiiypmetl knwwlqqysh
      361 dsadpgilvl lacgtisstc gqiasyplal vrtrmqaqas ieggpqlsml gllrhilsqe
      421 gmrglyrgia pnfmkvipav sisyvvyenm kqalgvtsr
//
LOCUS       XP_047301604            1323 aa            linear   PRI 20-MAR-2023
DEFINITION  tensin-1 isoform X18 [Homo sapiens].
ACCESSION   XP_047301604
VERSION     XP_047301604.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445648.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1323
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1323
                     /product="tensin-1 isoform X18"
                     /calculated_mol_wt=139661
     Region          <99..488
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <316..834
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1047..1162
                     /region_name="SH2_Tensin_like"
                     /note="Src homology 2 domain found in Tensin-like
                     proteins; cd09927"
                     /db_xref="CDD:198181"
     Site            order(1058,1076,1114,1116)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198181"
     Site            order(1115,1145)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198181"
     Region          1184..1317
                     /region_name="PTB_tensin"
                     /note="Tensin Phosphotyrosine-binding (PTB) domain;
                     cd01213"
                     /db_xref="CDD:269924"
     Site            order(1190,1276,1297)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269924"
     Site            order(1254..1259,1283,1306,1310)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269924"
     CDS             1..1323
                     /gene="TNS1"
                     /gene_synonym="MST091; MST122; MST127; MSTP091; MSTP122;
                     MSTP127; MXRA6; PPP1R155; TNS"
                     /coded_by="XM_047445648.1:457..4428"
                     /db_xref="GeneID:7145"
                     /db_xref="HGNC:HGNC:11973"
                     /db_xref="MIM:600076"
ORIGIN      
        1 myhtqhlrsr paggsavpss grhvvpaqvh vnggalaser etdilddelp nqdghsagsm
       61 gtlssldgvt ntseggypea lspltngldk sypmepmvng ggypyesasr agpahaghta
      121 pmrpsysaqe glagyqregp hpawpqpvtt shyahdpsgm frsqsfseae pqlppapvrg
      181 gssreavqrg lnswqqqqqq qqqprppprq qerahleslv asrpspqpla etpipslpef
      241 praasqqeie qsietlnmlm ldlepasaaa plhksqsvpg awpgasplss qplsgssrqs
      301 hpltqsrsgy ipsghslgtp epaprasles vppgrsyspy dyqpclagpn qdfhskspas
      361 sslpaflptt hsppgpqqpp aslpgltaqp llspkeatsd psrtpeeepl nleglvahrv
      421 agvqarekqp aeppaplrrr aasdgqyenq speatsprsp gvrspvqcvs pelaltialn
      481 pggrpkephl hsykeafeem egtspssppp sgvrsppgla ktplsalglk phnpadillh
      541 ptgvtrrriq pdslsqeiip vnlflsfsff alphlhhlpf fpaspsshls srlpseedeg
      601 kvvvrlseep rsyvesvart avagpraqds epksfsapat qaygheiplr ngtlggsfvs
      661 psplstsspi lsadstsvgs fpsgessdqg prtptqplle sgfrsgslgq pspsaqrnyq
      721 sssplptvgs sysspdyslq hfssspesqa raqfsvagvh tvpgspqarh rtvgtntpps
      781 pgfgwrainp smaapsspsl shhqmmgppg tgfhgstvss pqssaattpg spslcrhpag
      841 vyqvsglhnk vattpgspsl grhpgahqgn lasglhsnai aspgspslgr hlggsgsvvp
      901 gspcldrhva yggystpedr rptlsrqssa sgyqapstps fpvspayypg lsspatspsp
      961 dsaafrqgsp tpalpekrrm svgdragslp nyatingkvs spvasgmssp sggstvsfsh
     1021 tlpdfskysm pdnspetrak vkfvqdtsky wykpeisreq aiallkdqep gafiirdshs
     1081 frgayglamk vssppptimq qnkkgdmthe lvrhflietg prgvklkgcp nepnfgslsa
     1141 lvyqhsiipl alpcklvipn rdptdeskds sgpanstadl lkqgaacnvl fvnsvdmesl
     1201 tgpqaiskat setlaadptp aativhfkvs aqgitltdnq rklffrrhyp lntvtfcdld
     1261 pqerkwmkte ggapaklfgf varkqgsttd nachlfaeld pnqpasaivn fvskvmlnag
     1321 qkr
//
LOCUS       XP_047305696             581 aa            linear   PRI 20-MAR-2023
DEFINITION  ETS-related transcription factor Elf-2 isoform X2 [Homo sapiens].
ACCESSION   XP_047305696
VERSION     XP_047305696.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449740.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..581
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..581
                     /product="ETS-related transcription factor Elf-2 isoform
                     X2"
                     /calculated_mol_wt=62580
     Region          3..108
                     /region_name="Elf-1_N"
                     /note="Transcription factor protein N terminal; pfam12310"
                     /db_xref="CDD:432470"
     Region          197..277
                     /region_name="Ets"
                     /note="Ets-domain; pfam00178"
                     /db_xref="CDD:425506"
     CDS             1..581
                     /gene="ELF2"
                     /gene_synonym="b; EU32; NERF; NERF-1a; NERF-1A; NERF-1B;
                     NERF-2"
                     /coded_by="XM_047449740.1:689..2434"
                     /db_xref="GeneID:1998"
                     /db_xref="HGNC:HGNC:3317"
                     /db_xref="MIM:619798"
ORIGIN      
        1 mtsavvdsgg tilelssngv enqeesekvs eypavivepv psarleqgya aqvlvyddet
       61 ymmqdvaeeq evetenvetv easvhssnah ctdktieaae allhmesptc lrdsrspefi
      121 haamrpdvit etvvevstee sepmdtspip tspdshepmk kkkvgrkpkt qqspisngsp
      181 elgikkkpre gkgnttylwe flldllqdkn tcpryikwtq rekgifklvd skavsklwgk
      241 hknkpdmnye tmgralryyy qrgilakveg qrlvyqfkdm pknivviddd ksetcnedla
      301 gttdeksler vslsaesllk aassvrsgkn sspincsrae kgvarvvnit spghdassrs
      361 ptttasvsat aaprtvrvam qvpvvmtslg qkistvavqs vnagaplits tspttatspk
      421 vviqtiptvm pastengdki tmqpakiiti patqlaqcql qtksnltgsg sinivgtpla
      481 vraltpvsia hgtpvmrlsm ptqqasgqtp prvisavikg pevkseavak kqehdvktlq
      541 lveekpadgn ktvthvvvvs apsaialpvt mkteglvtce k
//
LOCUS       XP_016863356             515 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA-directed primase/polymerase protein isoform X2 [Homo sapiens].
ACCESSION   XP_016863356
VERSION     XP_016863356.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017007867.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..515
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..515
                     /product="DNA-directed primase/polymerase protein isoform
                     X2"
                     /calculated_mol_wt=59567
     Region          402..479
                     /region_name="Herpes_UL52"
                     /note="Herpesviridae UL52/UL70 DNA primase; pfam03121"
                     /db_xref="CDD:367342"
     CDS             1..515
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /coded_by="XM_017007867.3:309..1856"
                     /db_xref="GeneID:201973"
                     /db_xref="HGNC:HGNC:26575"
                     /db_xref="MIM:615421"
ORIGIN      
        1 mnrkweaklk qieerashye rkplssvyrp rlskpeepps iwrlfhrqaq afnfvkscke
       61 dvhvfaleck vgdgqriylv ttyaefwfyy ksrknllhcy evipenavck lyfdlefnkp
      121 anpgadgkkm vallieyvck alqelygvnc saedvlnlds stdekfsrhl ifqlhdvafk
      181 dnihvgnflr kilqpaldll gsedddsape ttghgfphfs eaparqgfsf nkmftekate
      241 eswtsnskkl erlgsaeqss pdlsflvvkn nmgekhlfvd lgvytrnrnf rlyksskigk
      301 rvalevtedn kffpiqskdv sdeyqyflss lvsnvrfsdt lriltcepsq nkqkgvgyfn
      361 sigtsvetie gfqcspypev dhfvlslvnk dgikggirrw nyffpeellv ydickyrwce
      421 nigrahksnn iisfcvifgn hrfdwilvdl knevwyqkch dpvckaenfk sdcfplpaev
      481 cllflfkeld cplvkklnpp llfrrgvlks mctel
//
LOCUS       XP_047305984            1172 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-G-associated kinase isoform X37 [Homo sapiens].
ACCESSION   XP_047305984
VERSION     XP_047305984.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047450028.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1172
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1172
                     /product="cyclin-G-associated kinase isoform X37"
                     /calculated_mol_wt=128156
     Region          <46..241
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          321..483
                     /region_name="PTP_GAK"
                     /note="protein tyrosine phosphatase-like domain of
                     cyclin-G-associated kinase; cd14564"
                     /db_xref="CDD:350412"
     Region          491..629
                     /region_name="PTEN_C2"
                     /note="C2 domain of PTEN tumor-suppressor protein;
                     pfam10409"
                     /db_xref="CDD:431265"
     Region          <650..985
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          <1121..1165
                     /region_name="DnaJ"
                     /note="DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock
                     protein 40) proteins are highly conserved and play crucial
                     roles in protein translation, folding, unfolding,
                     translocation, and degradation. They act primarily by
                     stimulating the ATPase activity of Hsp70s; cd06257"
                     /db_xref="CDD:99751"
     Site            order(1136..1138,1150,1153..1154,1157..1158)
                     /site_type="other"
                     /note="HSP70 interaction site [polypeptide binding]"
                     /db_xref="CDD:99751"
     CDS             1..1172
                     /gene="GAK"
                     /gene_synonym="DNAJ26; DNAJC26"
                     /coded_by="XM_047450028.1:130..3648"
                     /db_xref="GeneID:2580"
                     /db_xref="HGNC:HGNC:4113"
                     /db_xref="MIM:602052"
ORIGIN      
        1 msllqsaldf lagpgslgga sgrdqsdfvg qtvelgelrl rvrrvlaegq lveflkkmes
       61 rgplscdtvl kifyqtcrav qhmhrqkppi ihrdlkvenl llsnqgtikl cdfgsattis
      121 hypdyswsaq rralveeeit rnttpmyrtp eiidlysnfp igekqdiwal gcilyllcfr
      181 qhpfedgakl rivngkysip phdtqytvfh sliramlqvn peerlsiaev vhqlqeiaaa
      241 rnvnpkspit elleqnggyg satlsrgppp pvgpagsgys gglalaeydq pyggfldilr
      301 ggterlftnl kdtsskviqs vanyakgdld isyitsriav msfpaegves alknniedvr
      361 lfldskhpgh yavynlsprt yrpsrfhnrv secgwaarra phlhtlynic rnmhawlrqd
      421 hknvcvvhcm dgraasavav csflcfcrlf staeaavymf smkrcppgiw pshkryieym
      481 cdmvaeepit phskpilvra vvmtpvplfs kqrsgcrpfc evyvgderva stsqeydkmr
      541 dfkiedgkav iplgvtvqgd vliviyhars tlggrlqakm asmkmfqiqf htgfvprnat
      601 tvkfakydld acdiqekypd lfqvnlevev eprdrpsrea ppwenssmrg lnpkilfssr
      661 eeqqdilskf eekeaetgae nasskesesa lmedrdesev sdeggspiss egqepradpe
      721 ppglaaglvq qdlvfevetp avlpepvpqe dgvdllglhs evgagpavpp qackapssnt
      781 dllscllgpp eaasqgpped llsedpllla spapplsvqs tprggppaag nnsqpcsnpd
      841 lfgeflnsds vtvppsfpsa hsapppscsa dflhlgdlpg epskmtasss npdllggwaa
      901 wtetaasava ptpategplf spggqpapcg sqaswtksqn pdpfadlgdl ssglqgspag
      961 fppggfipkt attpkgsssw qtsrppaqga swppqakppp kactqprpny asnfsvigar
     1021 eergvrapsf aqkpkvsend fedllsnqgf ssrsdkkgpk tiaemrkqdl akdtdplklk
     1081 lldwiegker nirallstlh tvlwdgesrw tpvgmadlva peqvkkhyrr avlavhpdka
     1141 agqpyeqhak mifmelndaw sefenqgsrp lf
//
LOCUS       XP_047274765            1884 aa            linear   PRI 20-MAR-2023
DEFINITION  afadin isoform X22 [Homo sapiens].
ACCESSION   XP_047274765
VERSION     XP_047274765.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418809.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 6% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1884
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1884
                     /product="afadin isoform X22"
                     /calculated_mol_wt=212709
     Region          20..131
                     /region_name="RA1_Afadin"
                     /note="Ras-associating (RA) domain 1 found in Afadin;
                     cd01782"
                     /db_xref="CDD:340480"
     Site            order(44,58,78)
                     /site_type="other"
                     /note="RA - Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:340480"
     Region          247..347
                     /region_name="RA2_Afadin"
                     /note="Ras-associating (RA) domain 2 found in Afadin;
                     cd01781"
                     /db_xref="CDD:340479"
     Region          384..487
                     /region_name="FHA_AFDN"
                     /note="forkhead associated (FHA) domain found in afadin
                     and similar proteins; cd22711"
                     /db_xref="CDD:438763"
     Region          596..917
                     /region_name="Myo5p-like_CBD_afadin"
                     /note="cargo binding domain of myosin 5-like of afadin;
                     cd15471"
                     /db_xref="CDD:271255"
     Region          993..1075
                     /region_name="PDZ"
                     /note="PDZ domain (Also known as DHR or GLGF); pfam00595"
                     /db_xref="CDD:395476"
     Site            order(1002..1005,1007,1059..1060,1063..1064)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          <1447..1663
                     /region_name="DUF4670"
                     /note="Domain of unknown function (DUF4670); pfam15709"
                     /db_xref="CDD:434873"
     CDS             1..1884
                     /gene="AFDN"
                     /gene_synonym="AF6; l-afadin; MLL-AF6; MLLT4"
                     /coded_by="XM_047418809.1:570..6224"
                     /db_xref="GeneID:4301"
                     /db_xref="HGNC:HGNC:7137"
                     /db_xref="MIM:159559"
ORIGIN      
        1 msaggrdeer rkladiihhw nanrldlfei sqptedlefh gvmrfyfqdk aagnfatkci
       61 rvsstattqd vietlaekfr pdmrmlsspk yslyevhvsg errldidekp lvvqlnwnkd
      121 dregrfvlkn endaippkka qsngpekqek egviqnfkrt lskkekkekk krekealrqa
      181 sdkddrpfqg edvensrlaa evykdmpets ftrtisnpev vmkrrrqqkl ekrmqefrss
      241 dgrpdsggtl riyadslkpn ipyktillst tdpadfavae alekygleke npkdyciarv
      301 mlppgaqhsd ekgakeiild ddecplqifr ewpsdkgilv fqlkrrppdh ipkktkkhle
      361 gktpkgkera dgsgygstlp peklpylvel spdgsdsrdk pklyrlqlsv tevgtekldd
      421 nsiqlfgpgi qphhcdltnm dgvvtvtprs mdaetyvegq risettmlqs gmkvqfgash
      481 vfkfvdpsqd halakrsvdg glmvkgprhk pgivqettfd lggdihsgta lptsksttrl
      541 dsdrvssass taergmvkpm irveqqpdyr rqesrtqdas gpelilpasi efressedsf
      601 lsaiinytns stvhfklspt yvlymacryv lsnqyrpdis pterthkvia vvnkmvsmme
      661 gviqkqknia galafwmana sellnfikqd rdlsritlda qdvlahlvqm afkylvhclq
      721 selnnympaf lddpeenslq rpkiddvlht ltgamsllrr crvnaaltiq lfsqlfhfin
      781 mwlfnrlvtd pdsglcshyw gaiirqqlgh ieawaekqgl elaadchlsr ivqattlltm
      841 dkyapddipn instcfklns lqlqallqny hcapdepfip tdlienvvtv aentadelar
      901 sdgrevqlee dpdlqlpfll pedgyscdvv rnipnglqef ldplcqrgfc rliphtrspg
      961 twtiyfegad yeshllrent elaqplrkep eiitvtlkkq ngmglsivaa kgagqdklgi
     1021 yvksvvkgga advdgrlaag dqllsvdgrs lvglsqeraa elmtrtssvv tlevakqgai
     1081 yhglatllnq pspmmqrisd rrgsgkprpk segfelynns tqngspespq lpwaeysepk
     1141 klpgddrlmk nradhrsspn vanqppspgg ksayasgtta kitsvstgnl cteeqtpppr
     1201 peaypiptqt ytreyftfpa sksqdrmapp qnqwpnyeek phmhtdsnhs siaiqrvtrs
     1261 qeelredkay qlerhrieaa mdrksdsdmw inqsssldss tssqehlnhs sksvtpastl
     1321 tksgpgrwkt paaipatpva vsqpirtdlp pppppppvhy agdfdgmsmd lplppppsan
     1381 qiglpsaqva aaerrkreeh qrwyekekar leeererkrr eqerklgqmr tqslnpapfs
     1441 pltaqqmkpe kpstlqrpqe tvirelqpqq qprtierrdl qyitvskeel ssgdslspdp
     1501 wkrdakekle kqqqmhivdm lskeiqelqs kpdrsaeesd rlrklmlewq fqkrlqeskq
     1561 kdeddeeeed ddvdtmlimq rleaerrard eerrrqqqle emrkreaedr arqeeerrrq
     1621 eeertkrdae ekrrqeegyy srleaerrrq hdeaarrlle peapglcrpp lprdyeppsp
     1681 spapgapppp pqrnasylkt qvlspdslft akfvayneee eeedcslagq dkysstrksh
     1741 gdllpaplkp rpppcqprpa sdgvflsnsf qppsakanst ahkkgqplpp pkksssyhps
     1801 hckgrgpnsy pgstgaavga hdacrdakek rsksqdadsp gssgapenlt fkerqrlfsq
     1861 gqdvsnkvka srkltelene lntk
//
LOCUS       XP_011516668             445 aa            linear   PRI 20-MAR-2023
DEFINITION  Fanconi anemia group C protein isoform X5 [Homo sapiens].
ACCESSION   XP_011516668
VERSION     XP_011516668.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011518366.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..445
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..445
                     /product="Fanconi anemia group C protein isoform X5"
                     /calculated_mol_wt=50711
     Region          10..>444
                     /region_name="Fanconi_C"
                     /note="Fanconi anaemia group C protein; pfam02106"
                     /db_xref="CDD:426603"
     CDS             1..445
                     /gene="FANCC"
                     /gene_synonym="FA3; FAC; FACC"
                     /coded_by="XM_011518366.4:263..1600"
                     /db_xref="GeneID:2176"
                     /db_xref="HGNC:HGNC:3584"
                     /db_xref="MIM:613899"
ORIGIN      
        1 maqdsvdlsc dyqfwmqkls vwdqastlet qqdtclhvaq fqeflrkmye alkemdsntv
       61 ierfptigql lakacwnpfi laydesqkil iwclcclink epqnsgqskl nswiqgvlsh
      121 ilsalrfdke valftqglgy apidyypgll knmvlslase lrenhlngfn tqrrmaperv
      181 aslsrvcvpl itltdvdplv eallichgre pqeilqpeff eavneaillk kislpmsavv
      241 clwlrhlpsl ekamlhlfek lissernclr riecfikdss lpqaachpai frvvdemfrc
      301 alletdgale iiatiqvftq cfvealekas kqlrfalkty fpytspslam vllqdpqdip
      361 rghwlqtlkh isellreave dqthgscggp feswflfihf ggwaemvaeq llmsaaeppt
      421 allwllafyy gprdgrqqra qtmaw
//
LOCUS       XP_054185434             246 aa            linear   PRI 20-MAR-2023
DEFINITION  derlin-3 isoform X3 [Homo sapiens].
ACCESSION   XP_054185434
VERSION     XP_054185434.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329459.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187633.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..246
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     Protein         1..246
                     /product="derlin-3 isoform X3"
                     /calculated_mol_wt=26684
     CDS             1..246
                     /gene="DERL3"
                     /gene_synonym="C22orf14; derlin-3; IZP6; LLN2"
                     /coded_by="XM_054329459.1:20..760"
                     /db_xref="GeneID:91319"
                     /db_xref="HGNC:HGNC:14236"
                     /db_xref="MIM:610305"
ORIGIN      
        1 mawqglaaef lqvpavtray taacvlttaa vqlellspfq lyfnphlvfr kfqvwrlvtn
       61 flffgplgfs fffnmlfvfr ycrmleegsf rgrtadfvfm flfggvlmtv sfpqalepra
      121 raprrpacvg pgantamper dtvavsslvc vegplcaqlq gsgldlqccm qntkpctkep
      181 gtvpalgahg llaaagqlhp rgpagdcggp ylllpggrlp qpawrqeapa dpwlpgtseq
      241 qgpswq
//
LOCUS       XP_054188025             260 aa            linear   PRI 20-MAR-2023
DEFINITION  immunoglobulin alpha Fc receptor isoform X1 [Homo sapiens].
ACCESSION   XP_054188025
VERSION     XP_054188025.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332050.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_016107312.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..260
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..260
                     /product="immunoglobulin alpha Fc receptor isoform X1"
                     /calculated_mol_wt=29133
     CDS             1..260
                     /gene="FCAR"
                     /gene_synonym="CD89; CTB-61M7.2; FcalphaR; FcalphaRI"
                     /coded_by="XM_054332050.1:200..982"
                     /db_xref="GeneID:2204"
                     /db_xref="HGNC:HGNC:3608"
                     /db_xref="MIM:147045"
ORIGIN      
        1 mpfisakssp vipldgsvki qcqaireayl tqlmiiknst yreigrrlkf wnetdpefvi
       61 dhmdankagr yqcqyrighy rfrysdtlel vvtglygkpf lsadrglvlm pgenisltcs
      121 sahipfdrfs lakegelslp qhqsgehpan fslgpvdlnv sgiyrcygwy nrspylwsfp
      181 snalelvvtd sihqdyttqn lirmavaglv lvallailve nwhshtalnk easadvaeps
      241 wsqqmcqpgl tfartpsvck
//
LOCUS       XP_054191867             583 aa            linear   PRI 20-MAR-2023
DEFINITION  dynamin-3 isoform X13 [Homo sapiens].
ACCESSION   XP_054191867
VERSION     XP_054191867.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335892.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..583
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..583
                     /product="dynamin-3 isoform X13"
                     /calculated_mol_wt=65869
     CDS             1..583
                     /gene="DNM3"
                     /gene_synonym="Dyna III"
                     /coded_by="XM_054335892.1:160..1911"
                     /db_xref="GeneID:26052"
                     /db_xref="HGNC:HGNC:29125"
                     /db_xref="MIM:611445"
ORIGIN      
        1 mgnremeeli plvnrlqdaf salgqsclle lpqiavvggq sagkssvlen fvgrdflprg
       61 sgivtrrplv lqlvtskaey aeflhckgkk ftdfdevrle ieaetdrvtg mnkgissipi
      121 nlrvysphvl nltlidlpgi tkvpvgdqpp dieyqiremi mqfitrencl ilavtpantd
      181 lansdalkla kevdpqglrt igvitkldlm degtdardvl enkllplrrg yvgvvnrsqk
      241 didgkkdika amlaerkffl shpayrhiad rmgtphlqkv lnqqltnhir dtlpnfrnkl
      301 qgqllsiehe veayknfkpe dptrktkall qmvqqfavdf ekriegsgdq vdtlelsgga
      361 kinrifherf pfeivkmefn ekelrreisy aiknihgirt glftpdmafe aivkkqivkl
      421 kgpslksvdl viqelintvk kctkklanfp rlceeteriv anhireregk tkdqvlllid
      481 iqvsyintnh edfigfanaq qrssqvhkkt tvgnqvirkg wltisnigim kggskgywfv
      541 ltaeslswyk ddeeglrtpi vsfpaigdfn mrivsalyfe sky
//
LOCUS       XP_054193978             219 aa            linear   PRI 20-MAR-2023
DEFINITION  ras-related protein Rab-3B isoform X1 [Homo sapiens].
ACCESSION   XP_054193978
VERSION     XP_054193978.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338003.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..219
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..219
                     /product="ras-related protein Rab-3B isoform X1"
                     /calculated_mol_wt=24627
     CDS             1..219
                     /gene="RAB3B"
                     /coded_by="XM_054338003.1:364..1023"
                     /db_xref="GeneID:5865"
                     /db_xref="HGNC:HGNC:9778"
                     /db_xref="MIM:179510"
ORIGIN      
        1 masvtdgktg vkdasdqnfd ymfklliign ssvgktsflf ryaddtftpa fvstvgidfk
       61 vktvyrhekr vklqiwdtag qeryrtitta yyrgamgfil myditneesf navqdwatqi
      121 ktyswdnaqv ilvgnkcdme eervvptekg qllaeqlgfd ffeasakeni svrqaferlv
      181 daicdkmsds ldtdpsmlgs skntrlsdtp pllqqncsc
//
LOCUS       XP_054220537             872 aa            linear   PRI 20-MAR-2023
DEFINITION  sorbin and SH3 domain-containing protein 1 isoform X15 [Homo
            sapiens].
ACCESSION   XP_054220537
VERSION     XP_054220537.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364562.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..872
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..872
                     /product="sorbin and SH3 domain-containing protein 1
                     isoform X15"
                     /calculated_mol_wt=96537
     CDS             1..872
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /coded_by="XM_054364562.1:184..2802"
                     /db_xref="GeneID:10580"
                     /db_xref="HGNC:HGNC:14565"
                     /db_xref="MIM:605264"
ORIGIN      
        1 mssecdggsk avmnglapgs ngqdkdmdpt kictgkgavt lrasssyret pssspaspqe
       61 trqheskpgl epepssadew rlsssadang naqpsslaak gyrsvhpnlp sdksqdatss
      121 saaqpevivv plylvntdrg qegtarpptp lgplgcvpti patasaaspl tfptlddfip
      181 phlqrwphhs qparasgsfa pisqtppsfs pppplvppap edlrrvsepd ltgavsstds
      241 spllnevsss ligtdsqafp svskpssayp sttivnptiv llqhnreqqk rlsslsdpvs
      301 errvgeqdsa ptqekptspg kaiekrakdd srrvvkstqd lsdvsmdevg iplrntersk
      361 dwyktmfkqi hklnrdddsd lysprysfse dtksplsvpr sksemsyidg ekvvkrsatl
      421 plparssslk ssserndwep pdkkvdtrky raepksiyey qpgkssvltn ekmssaispt
      481 peissetpgy iyssnfhavk resdgapgdl tslenerqiy ksvleggdip lqglsglkrp
      541 sssastkdse sprhfipady lesteefirr rhddkeklla dqrrlkreqe eadiaarrht
      601 gvipthhqfi tnerfgdlln iddtakrksg semrparakf dfkaqtlkel plqkgdivyi
      661 ykqidqnwye gehhgrvgif prtyiellpp aekaqpkklt pvqvleygea iakfnfngdt
      721 qvemsfrkge ritllrqvde nwyegripgt srqgifpity vdvikrplvk npvdymdlpf
      781 ssspsrsata spqqpqaqqr rvtpdrsqts qdlfsyqaly syipqnddel elrdgdivdv
      841 mekcddgwfv gtsrrtkqfg tfpgnyvkpl yl
//
LOCUS       XP_054221470             332 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein phosphatase non-receptor type 20 isoform X9 [Homo
            sapiens].
ACCESSION   XP_054221470
VERSION     XP_054221470.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365495.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..332
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..332
                     /product="tyrosine-protein phosphatase non-receptor type
                     20 isoform X9"
                     /calculated_mol_wt=37687
     CDS             1..332
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /coded_by="XM_054365495.1:88..1086"
                     /db_xref="GeneID:26095"
                     /db_xref="HGNC:HGNC:23423"
                     /db_xref="MIM:610630"
ORIGIN      
        1 mvsavkmral tekewdlenw sadiceepyk agciepldpd esslpvkaam pppseeidat
       61 lpeetfitsp efvalqdiad ssqdsqppsf iasrpitrlk sqqalkddst rvplgkskdy
      121 inasyirivn cgeeyfyiat qgpllstidd fwqmvlenns nviamitrei eggiikcyhy
      181 wpislkkple lkhfrvflen yqilqyfiir mfqvvekstg tshsvkqlqf tkwpdhgtpa
      241 sadsfikyir yarkshltgp mvvhcsagig rtgvflcvdv vfcaivkncs fnimdivaqm
      301 reqrsgmvqt keqyhfcydi vlevlrkllt ld
//
LOCUS       XP_054223426             848 aa            linear   PRI 20-MAR-2023
DEFINITION  reticulon-3 isoform X3 [Homo sapiens].
ACCESSION   XP_054223426
VERSION     XP_054223426.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367451.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..848
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..848
                     /product="reticulon-3 isoform X3"
                     /calculated_mol_wt=91769
     CDS             1..848
                     /gene="RTN3"
                     /gene_synonym="ASYIP; HAP; NSPL2; NSPLII; RTN3-A1"
                     /coded_by="XM_054367451.1:188..2734"
                     /db_xref="GeneID:10313"
                     /db_xref="HGNC:HGNC:10469"
                     /db_xref="MIM:604249"
ORIGIN      
        1 maepsaatqs hsissssfga epsapggggs pgacpalgtk scssscadsf vsssssqpvs
       61 lfstsqegls slcsdepsse imtssflsss eihntgltil hgekshvlgs qpilakegkd
      121 hldlldmkkm ekpqgtsnnv sdssvslaag vhcdrpsipa sfpehpafls kkigqveeqi
      181 dketknpngv ssreaktald addrftllta qkppteyskv egiytyslsp skvsgddvie
      241 kdspespfev iidkaafdke fkdsykestd dfgswsvhtd kessediset ndklfplrnk
      301 eagrypmsal lsrqfshtna aleevsrcvn dmhnftneil twdlvpqvkq qtdkssdcit
      361 kttgldmsey nseipvvnlk tsthqktpvc sidgstpitk stgdwaeasl qqenaitgkp
      421 vpdslnstke fsikgvqgnm qkqddtlael pgsppekcds lgsgvatvkv alpddhlkde
      481 mdwqssalge iteadssges ddtviedita dtsfennkiq aekpvsipsa vvktgereik
      541 eipscereek tsknfeelvs dselhqdqpd ilgrspasea acskvpdtnv sledvsevap
      601 ekpittenpk lpstvspnvf netefslnvt tsayleslhg knvkhiddss pedliaafte
      661 trdkgivdse rnafkaisek mtdfkttppv evlhenesgg seikdigsky seqsketngs
      721 eplgvfptqg tpvasldleq eqltikalke lgerqvekst saqrdaelps eevlkqtftf
      781 apeswpqrsy dilernvkng sdlgisqkpi tirettrvda vsslsktelv kkhvlarllt
      841 dfsgfywt
//
LOCUS       XP_054226672             308 aa            linear   PRI 20-MAR-2023
DEFINITION  SH2B adapter protein 3 isoform X7 [Homo sapiens].
ACCESSION   XP_054226672
VERSION     XP_054226672.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370697.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..308
                     /product="SH2B adapter protein 3 isoform X7"
                     /calculated_mol_wt=33992
     CDS             1..308
                     /gene="SH2B3"
                     /gene_synonym="IDDM20; LNK"
                     /coded_by="XM_054370697.1:291..1217"
                     /db_xref="GeneID:10019"
                     /db_xref="HGNC:HGNC:29605"
                     /db_xref="MIM:605093"
ORIGIN      
        1 mpdnlytfvl kvkdrtdiif evgdeqqlns wmaelsectg rglesteaem hipsalepst
       61 sssprgstds lnqgaspggl ldpacqktdh flscypwfhg pisrvkaaql vqlqgpdahg
      121 vflvrqsetr rgeyvltfnf qgiakhlrls ltergqcrvq hlhfpsvvdm lhhfqrspip
      181 lecgaacdvr lssyvvvvsq ppgscntvlf pfslphwdse slphwgselg lphlsssgcp
      241 rglspeglpg rssppeqifh lvpspeelan slqhlehepv nrardsdyem dsssrshlra
      301 idnqytpl
//
LOCUS       XP_054228654            1083 aa            linear   PRI 20-MAR-2023
DEFINITION  fibrosin-1-like protein isoform X4 [Homo sapiens].
ACCESSION   XP_054228654
VERSION     XP_054228654.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372679.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1083
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1083
                     /product="fibrosin-1-like protein isoform X4"
                     /calculated_mol_wt=115020
     CDS             1..1083
                     /gene="FBRSL1"
                     /coded_by="XM_054372679.1:422..3673"
                     /db_xref="GeneID:57666"
                     /db_xref="HGNC:HGNC:29308"
                     /db_xref="MIM:620123"
ORIGIN      
        1 meakvrpsrr sraqrdrgrr reaardaraq spssgdepep spgkenaglr gapprgaapa
       61 praarpprrr rresssqeee vidgfaiasf stlealekdm alkpherkek werrlikkpr
      121 esetcppaep senrrpleag spgqdlepac dgarkvplqp skqmkvtvsk ggdrdsddds
      181 vleatssrdp lsdssahavs grgyscdses gpddkasvgs eklfapgtdk gpalekseak
      241 agpvpkvsgl ersrelsaes flptaspaph aapcpgpppg sranplvkke ppaphrhtpq
      301 ppppqprgll pthvpaslga faghsqaaan glhglsrsss aplglgkhvs lsphgpgphl
      361 stshlalrsq aqhqlhaamf aapptlpppp alpasslvlp ghpadaslav sfsqpimycq
      421 phsgilidhe llrqelntrf lvqsaerpga slgpgallra efhqhqhthq hthqhthqhq
      481 htfapfpagl pptppaappp fdkyapklds pyfrhssffp sfppaipglp tllphpgpfg
      541 slqgafqpkt sspievarra gavhtllqka pgvsdpyrav vkkpgrwcav hvqiawqiyr
      601 hqqkikemql dphklevgak ldlfgrppap gvfagfhypq dlarplfpst gharewevkv
      661 hrgnwgapce qscrwealvl spgfcqtwlp ppgaahpasn pfgpsahpgs flptgpltdp
      721 fsrpstfggl gslsshafgg lgshalapgg sifapkegss vhglpsphea wnrlhrapps
      781 fpapppwpks vdaervsalt nhdrepdngk eeqerdllek trllsraspa tpaghpvsgl
      841 llraqselgr sgapaereae prvkesrspa keeaakmpar aspphskaap gdvkvkeerg
      901 edeaseppag glhpaplqlg lgrerlgapg fawepfrgle lprrafpaaa papgsaalle
      961 pperpyrdre phgysperlr geleraraph lppaapaldg allpslgalh fprlspaalh
     1021 ngllartppa aaalgapppl vtaagpptpp gpprsrttpl gglgpgeard yspsrnppev
     1081 ear
//
LOCUS       XP_054231565             713 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and BTB domain-containing protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054231565
VERSION     XP_054231565.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375590.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..713
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..713
                     /product="zinc finger and BTB domain-containing protein 1
                     isoform X1"
                     /calculated_mol_wt=81885
     CDS             1..713
                     /gene="ZBTB1"
                     /gene_synonym="ZNF909"
                     /coded_by="XM_054375590.1:840..2981"
                     /db_xref="GeneID:22890"
                     /db_xref="HGNC:HGNC:20259"
                     /db_xref="MIM:616578"
ORIGIN      
        1 makpshssyv lqqlnnqrew gflcdcciai ddiyfqahka vlaacssyfr mffmnhqhst
       61 aqlnlsnmki saecfdlilq fmylgkimta pssfeqfkva mnylqlynvp dclediqdad
      121 cssskcsssa sskqnskmif gvrmyedtva rngneanrwc aepsstvntp hnreadeesl
      181 qlgnfpeplf dvckkssvsk lstpkervsr rfgrsftcds cgfgfscekl ldehvltctn
      241 rhlyqntrsy hrivdirdgk dsnikaefge kdssktfsaq tdkyrgdtsq aaddsasttg
      301 srksstvese iaseeksraa erkriiikme pediptdelk dfniikvtdk dcnestdnde
      361 ledepeepfy ryyveedvsi kksgrktlkp rmsvsaderg glenmrppnn sspvqedaen
      421 ascelcglti teedlsshyl akhienicac gkcgqilvkg rqlqehaqrc gepqdltmng
      481 lgnteekmdl eenpdeqsei rdmfvemldd frdnhyqins iqkkqlfkhs acpfrcpncg
      541 qrfetenlvv ehmsscldqd mfksaimeen erdhrrkhfc nlcgkgfyqr chlrehytvh
      601 tkekqfvcqt cgkqflrerq lrlhndmhkg maryvcsicd qgnfrkhdhv rhmishlsag
      661 eticqvcfqi fpnneqleqh mdvhlytcgi cgakfnlrkd mrshynakhl krt
//
LOCUS       XP_054234411             721 aa            linear   PRI 20-MAR-2023
DEFINITION  mitogen-activated protein kinase 6 isoform X1 [Homo sapiens].
ACCESSION   XP_054234411
VERSION     XP_054234411.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378436.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..721
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..721
                     /product="mitogen-activated protein kinase 6 isoform X1"
                     /calculated_mol_wt=82550
     CDS             1..721
                     /gene="MAPK6"
                     /gene_synonym="ERK3; HsT17250; p97MAPK; PRKM6"
                     /coded_by="XM_054378436.1:1023..3188"
                     /db_xref="GeneID:5597"
                     /db_xref="HGNC:HGNC:6879"
                     /db_xref="MIM:602904"
ORIGIN      
        1 maekfeslmn ihgfdlgsry mdlkplgcgg nglvfsavdn dcdkrvaikk ivltdpqsvk
       61 halreikiir rldhdnivkv feilgpsgsq ltddvgslte lnsvyivqey metdlanvle
      121 qgplleehar lfmyqllrgl kyihsanvlh rdlkpanlfi ntedlvlkig dfglarimdp
      181 hyshkghlse glvtkwyrsp rlllspnnyt kaidmwaagc ifaemltgkt lfagaheleq
      241 mqlilesipv vheedrqell svipvyirnd mtephkpltq llpgisreal dfleqiltfs
      301 pmdrltaeea lshpymsiys fpmdepissh pfhiedevdd illmdethsh iynweryhdc
      361 qfsehdwpvh nnfdidevql dpralsdvtd eeevqvdprk yldgdrekyl edpafdtnys
      421 tepcwqysdh henkycdlec shtcnyktrs ssyldnlvwr esevnhyyep kliidlsnwk
      481 eqskeksdkk gkskcerngl vkaqialeea sqqlagkere knqgfdfdsf iagtiqlssq
      541 heptdvvdkl ndlnssvsql elkslisksv sqekqekgma nlaqlealyq sswdsqfvsg
      601 gedcffinqf cevrkdeqve kentytsyld kffsrkedte mletepvedg klgergheeg
      661 flnnsgeflf nkqlesigip qfhspvgspl ksiqatltps amksspqiph qtyssilkhl
      721 n
//
LOCUS       XP_054169986            2898 aa            linear   PRI 20-MAR-2023
DEFINITION  chromodomain-helicase-DNA-binding protein 9 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054169986
VERSION     XP_054169986.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314011.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2898
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2898
                     /product="chromodomain-helicase-DNA-binding protein 9
                     isoform X1"
                     /calculated_mol_wt=325977
     CDS             1..2898
                     /gene="CHD9"
                     /gene_synonym="AD013; CHD-9; CReMM; KISH2; PRIC320"
                     /coded_by="XM_054314011.1:349..9045"
                     /db_xref="GeneID:80205"
                     /db_xref="HGNC:HGNC:25701"
                     /db_xref="MIM:616936"
ORIGIN      
        1 mtdpmmdffd danlfgetle glsddafvqp gpvslvdeln lgaefeplhi dslnhvqgtp
       61 thqkmtdfeq lnqfdsikfh hvnqsfgspa ehvlsphsqf ncspihpqnq pnglfpdvsd
      121 gspmwghqta ttisnqngsp fhqqghshsm hqnksfvahh dfalfqaneq qtqctslrsq
      181 qnrnnlnpgq nslsqsknfm nvsgphrvnv nhppqmtnas nsqqsismqq fsqtsnpsah
      241 fhkcsshqeg nfngpspnmt scsvsnsqqf sshysfssnh ispnsllqss avlasnhtnq
      301 tlsdftgsns fsphrgikqe stqhilnpnt slnsnnfqil hsshpqgnys nsklspvhmn
      361 fpdpvdsgtq mghfndhvet ngfssleenl lhqvesqtep ftgldpedll qegllphfde
      421 stfgqdnssh ildhdldrqf tshlvtrpsd maqtqlqsqa rswhssfsnh qhlhdrnhlc
      481 lqrqppsskk sdgsgtytkl qntqvrvmse kkqrkkvese skqekanrii seaiakaker
      541 gerniprvms penfptasve gkeekkgrrm kskpkdkdsk ktktcsklke ktkigkliit
      601 lgkkqkrkne ssdeisdaeq mpqhtlkdqd sqkrrsnrqi krkkyaedie gkqseeevkg
      661 smkikknsap lpgeqplqlf venpseedaa ivdkilssrt vkkeispgvm idteeffvky
      721 knysylhcew ateeqllkdk riqqkikrfk lrqaqrahff admeeepfnp dyvevdrvle
      781 vsfcedkdtg epviyylvkw cslpyedstw elkedvdlak ieefeqlqas rpdtrrldrp
      841 psniwkkidq srdykngnql reyqleglnw llfnwynrrn cilademglg ktiqsitfly
      901 eilltgirgp fliiaplsti anwerefrtw tdinvvvyhg slisrqmiqq yemyfrdsqg
      961 riirgayrfq aiittfemil ggcgelnaie wrcviideah rlknknckll eglklmnleh
     1021 kvlltgtplq ntveelfsll hfleplrfps estfmqefgd lkteeqvqkl qailkpmmlr
     1081 rlkedvekkl apkeetiiev eltniqkkyy raileknfsf lskgagqtnv pnlvntmmel
     1141 rkccnhpyli kgaeekilge frdtynpaas dfhlqamiqs agklvlidkl lpkmkagghk
     1201 vlifsqmvrc ldiledylih krylyeridg rvrgnlrqaa idrfskpdsd rfvfllctra
     1261 gglginltaa dtciifdsdw npqndlqaqa rchrigqnka vkvyrlvtrn syeremfdra
     1321 slklgldkav lqsmsgresn vggiqqlskk eiedllrrga ygaimeeede gskfceedid
     1381 qillrrtkti tiesegrgst fakasfvasg nrtdislddp nfwqkwakka eidieaisgr
     1441 nslvidtpri rkqtrpfsat kdelaelsea esegdekpkl rrpcdrsngy grtecfrvek
     1501 nllvygwgrw reilshgrfk rqlnehdvei icrallaycl vhyrgdekik gfiwdlitpt
     1561 edgqtrelqn hlglsapvpr grkgkkvktq tssfdiqkae wlrkynpeql lqdegykkhi
     1621 khhcnkvllr vrmlyylkqe vignecqkvf dgvdasdidv wvpepdhsev paewwdfdad
     1681 kslligvfkh gyekyntira dpalcflerv gkpdekavaa eqrandymdg dvedpeykpa
     1741 paifkddied dvsspgdlvi adgdgqlmeg dkvywptqsa lttrlrrlit ayqrtnknrq
     1801 iqqiqptfsv ptsvmqpiye eatlnpkmaa kierqqrwtr reeadfyrvv stfgvvfdpd
     1861 rgqfdwtkfr amarlhkktd dslekylyaf msmcrrvcrl pskeelvdpn ifiqpiteer
     1921 asrtlyriel lrkvreqalr hpqlferlkl chpnpdlpvw wecgphdrdl ligaakhgvs
     1981 rtdyhilrdp elsfmaaqrn ysqskmahsr tstpllqqyq valsasplts lprlldakgi
     2041 ileemkvkse nlkeepqsse eesmssvetr tliksepvsp kngvlpqatg dqksggkcet
     2101 drrmvaarte pltpnpaskk prvhkrgses ssdsdsdser sscssrssss ssssscshsr
     2161 sgssssssss cssassssss stssssssss ssseesdsde eeaqkraest thmkaydees
     2221 vaslsttqde tqdsfqmnng tpesayilqg gymlaasywp kdrvminrld sicqtvlkgk
     2281 wpsarrsyda ntvasfyttk lldspgaate ysepsvptpp gagvkeehdq stqmskvkkh
     2341 vrekeftvki kdegglkltf qkqglaqkrp fdgedgalgq qqyltrlrel qsasetslvn
     2401 fpksipvsgt siqptlgang vildnqpivk krrgrrknve gvdifffnrn kppnhvslgl
     2461 tssqistgin palsytqpqg ipdtespvpv inlkdgtrla gddapkrkdl ekwlkehpgy
     2521 vedlgafipr mqlhegrpkq krhrcrnpnk ldvnsltgee rvqlinrrna rkvggafapp
     2581 lkdlcrflke nseygvapew gdvvkqsgfl pesmyerilt gpvvreevsr rgrrpksgia
     2641 kataaaaaas atsvsgnpll angllpgvdl ttlqalqqnl qnlqslqvta glmgmptglp
     2701 sggeaknmaa mfpmllsgma glpnllgmgg lltkptesgt edkkgsdske segktertes
     2761 qssenggens vssspstsst aalntaaaan plalnpllls nilypgmllt pglnlhiptl
     2821 sqsntfdvqn knsdlgssks vevkeedsri kdqedkggte psplnenstd egsekadass
     2881 gsdstsssse dsdssned
//
LOCUS       XP_054172493             184 aa            linear   PRI 20-MAR-2023
DEFINITION  phenylethanolamine N-methyltransferase isoform X1 [Homo sapiens].
ACCESSION   XP_054172493
VERSION     XP_054172493.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316518.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..184
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..184
                     /product="phenylethanolamine N-methyltransferase isoform
                     X1"
                     /calculated_mol_wt=20428
     CDS             1..184
                     /gene="PNMT"
                     /gene_synonym="PENT; PNMTase"
                     /coded_by="XM_054316518.1:424..978"
                     /db_xref="GeneID:5409"
                     /db_xref="HGNC:HGNC:9160"
                     /db_xref="MIM:171190"
ORIGIN      
        1 mtdflevnrq elgrwlqeep gafnwsmysq hacliegkge cwqdkerqlr arvkrvlpid
       61 vhqpqplgag spaplpadal vsafcleavs pdlasfqral dhittllrpg ghllligale
      121 eswylagear ltvvpvseee vrealvrsgy kvrdlrtyim pahlqtgvdd vkgvffawaq
      181 kvgl
//
LOCUS       XP_054176999             775 aa            linear   PRI 20-MAR-2023
DEFINITION  hormone-sensitive lipase isoform X3 [Homo sapiens].
ACCESSION   XP_054176999
VERSION     XP_054176999.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321024.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..775
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..775
                     /product="hormone-sensitive lipase isoform X3"
                     /calculated_mol_wt=83998
     CDS             1..775
                     /gene="LIPE"
                     /gene_synonym="AOMS4; FPLD6; HSL; LHS; REH"
                     /coded_by="XM_054321024.1:306..2633"
                     /db_xref="GeneID:3991"
                     /db_xref="HGNC:HGNC:6621"
                     /db_xref="MIM:151750"
ORIGIN      
        1 mdlrtmtqsl vtlaedniaf fssqgpgeta qrlsgvfagv reqalglepa lgrllgvahl
       61 fdldpetpan gyrslvhtar cclahllhks ryvasnrrsi ffrtshnlae leaylaaltq
      121 lralvyyaqr llvtnrpgvl ffegdeglta dflreyvtlh kgcfygrclg fqftpairpf
      181 lqtisiglvs fgehykrnet glsvaasslf tsgrfaidpe lrgaeferit qnldvhfwka
      241 fwnitemevl sslanmasat vrvsrllslp peafemplta dptltvtisp plahtgpgpv
      301 lvrlisydlr egqdseelss liksngqrsl elwprpqqap rsrslivhfh gggfvaqtsr
      361 shepylkswa qelgapiisi dyslapeapf praleecffa ycwaikhcal lgstgericl
      421 agdsaggnlc ftvalraaay gvrvpdgima aypatmlqpa aspsrllslm dpllplsvls
      481 kcvsayagak tedhsnsdqk algmmglvrr dtalllrdfr lgasswlnsf lelsgrksqk
      541 msepiaepmr rsvseaalaq pqgplgtdsl knltlrdlsl rgnsetssdt pemslsaetl
      601 spstpsdvnf llppedagee aeaknelspm drglgvraaf pegfhprrss qgatqmplys
      661 spivknpfms pllapdsmlk slppvhivac aldpmlddsv mlarrlrnlg qpvtlrvved
      721 lphgfltlaa lcretrqaae lcverirlvl tppagagpsg etgaagvdgg cggrh
//
LOCUS       XP_054198850             507 aa            linear   PRI 20-MAR-2023
DEFINITION  sphingomyelin phosphodiesterase 4 isoform X18 [Homo sapiens].
ACCESSION   XP_054198850
VERSION     XP_054198850.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342875.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..507
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..507
                     /product="sphingomyelin phosphodiesterase 4 isoform X18"
                     /calculated_mol_wt=56811
     CDS             1..507
                     /gene="SMPD4"
                     /gene_synonym="NEDMABA; NEDMEBA; NET13; NSMASE-3; NSMASE3;
                     SKNY"
                     /coded_by="XM_054342875.1:623..2146"
                     /db_xref="GeneID:55627"
                     /db_xref="HGNC:HGNC:32949"
                     /db_xref="MIM:610457"
ORIGIN      
        1 mglnlpevps alprrsqpsl mgalgssvsr asllgkqqvt lpipcraavp rfvqqklylf
       61 lqhcfghwpl dasfravlem wlsylqpwry apdkqapgsd sqprcvsekw apfvqenllm
      121 ytklfvgfln ralrtdlvsp khalmvfrva kvfaqpnlae miqkgeqlfl epelviphrq
      181 hrlftaptft gsflspwppa vtdasfkvks hvyslegqdc kytpmfgpea rtlvlrlaql
      241 itqakhtaks isdqcaespa ghsflswlgf ssmdtngsyt andldemgqd svrktdeyle
      301 kaleylrqif rlseaqlrqf tlalgttqde ngkkqlpdci vgedgliltp lgryqiingl
      361 rrfeieyqgd pelqpirsye iaslvrtlfr lssainhrfa gqmaalcsrd dflgsfcryh
      421 ltepglasrh llspvgrrqv aghtrgprls lrflgsyrtl vslllaffva slfcvgplpc
      481 tllltlgyvl yasamtllte rgklhqp
//
LOCUS       XP_054179026             290 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein phosphatase non-receptor type substrate 1 isoform
            X4 [Homo sapiens].
ACCESSION   XP_054179026
VERSION     XP_054179026.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323051.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..290
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..290
                     /product="tyrosine-protein phosphatase non-receptor type
                     substrate 1 isoform X4"
                     /calculated_mol_wt=31275
     CDS             1..290
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1;
                     SHPS1; SIRP"
                     /coded_by="XM_054323051.1:361..1233"
                     /db_xref="GeneID:140885"
                     /db_xref="HGNC:HGNC:9662"
                     /db_xref="MIM:602461"
ORIGIN      
        1 mepagpapgr lgpllcllla ascawsgvag eeelqviqpd ksvsvaages ailhctvtsl
       61 ipvgpiqwfr gagpareliy nqkeghfprv ttvsestkre nmdfsisisn itpadagtyy
      121 cvkfrkgspd tefksgagte lsvrentgsn erniyivvgv vctllvallm aalylvrirq
      181 kkaqgstsst rlhepeknar eitqvqsldt ndityadlnl pkgkkpapqa aepnnhteya
      241 siqtspqpas edtltyadld mvhlnrtpkq papkpepsfs eyasvqvprk
//
LOCUS       XP_054179316             691 aa            linear   PRI 20-MAR-2023
DEFINITION  short transient receptor potential channel 4-associated protein
            isoform X5 [Homo sapiens].
ACCESSION   XP_054179316
VERSION     XP_054179316.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323341.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..691
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..691
                     /product="short transient receptor potential channel
                     4-associated protein isoform X5"
                     /calculated_mol_wt=78049
     CDS             1..691
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /coded_by="XM_054323341.1:27..2102"
                     /db_xref="GeneID:26133"
                     /db_xref="HGNC:HGNC:16181"
                     /db_xref="MIM:608430"
ORIGIN      
        1 maaapvaags gagrgrrsaa tvaawggwgg rprpgnillq lrqgqltgrg lvravqftet
       61 flterdkqsk wsgipqlllk lhttshlhsd fvecqnilke ispllsmeam afvteerklt
      121 qettypntyi fdlfggvdll veilmrptis irgqklkisd emskdclsil yntcvctegv
      181 tkrlaekndf viflftlmts kktflqtatl iedilgvkke mirldevpnl sslvsnfdqq
      241 qlanfcrila vtisemdtgn ddkhtllakn aqqkkslslg psaaeinqaa llsipgfver
      301 lcklatrkvs estgtasflq eleewytwld nalvldalmr vaneesehnq gaseenglph
      361 tsartqlpqs mkimheimyk levlyvlcvl lmgrqrnqvh rmiaefklip glnnlfdkli
      421 wrkhsasalv lhghnqncdc spditlkiqf lrllqsfsdh henkylllnn qelnelsais
      481 lkanipevea vlntdrslvc dgkrglltrl lqvmkkepae ssfrfwqara vesflrgtts
      541 yadqmfllkr gllehilyci vdsecksrdv lqsyfdllge lmkfnvdafk rfnkyintda
      601 kfqvflkqin sslvdsnmlv rcvtlsldrf enqvdmkvae vlsecrllay isqvptqmsf
      661 lfrliniihv qtltqsegdl stsqrwslvp f
//
LOCUS       XP_054180804             958 aa            linear   PRI 20-MAR-2023
DEFINITION  trafficking protein particle complex subunit 10 isoform X19 [Homo
            sapiens].
ACCESSION   XP_054180804
VERSION     XP_054180804.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324829.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..958
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..958
                     /product="trafficking protein particle complex subunit 10
                     isoform X19"
                     /calculated_mol_wt=106683
     CDS             1..958
                     /gene="TRAPPC10"
                     /gene_synonym="EHOC-1; EHOC1; GT334; NEDMISS; TMEM1;
                     TRS130; TRS30"
                     /coded_by="XM_054324829.1:3344..6220"
                     /db_xref="GeneID:7109"
                     /db_xref="HGNC:HGNC:11868"
                     /db_xref="MIM:602103"
ORIGIN      
        1 mwstsgpgvs vppgaldcwv flsclevlqr iegccdraqi dsniahtvgl wsyateklks
       61 lgylcglvse kgpnsedlnr tvdllaglga erpetantaq spykklkeal ssveafekhy
      121 ldlshatiem ytsigrirsa kfvgkdlaef ymrkkapqka eiylqgalkn ylaegwalpi
      181 thtrkqlaec qkhlgqieny lqtssllasd hhlteeerkh fcqeildfas qpsdspghki
      241 vlpmhsfaql rdlhfdpsna vvhvggvlcv eitmysqmpv pvhveqivvn vhfsieknsy
      301 rktaewltkh ktsngiinfp petapfpvsq nslpalelye mferspsdns lnttgiicrn
      361 vhmllrrqes ssslempsgv aleegahvlr cshvtlepga nqitfrtqak epgtytlrql
      421 casvgsvwfv lphiypivqy dvysqepqlh veplaedfwa qmcrdfplpa skqsvlqfss
      481 dpvywswrqt pqdsllagip qrvkftvttg hytikngdsl qlsnaeamli lcqaesravv
      541 ysntreqsse aalriqssdk vtsislpvap ayhviefele vlslpsapal ggesdmlgma
      601 ephrkhkdkq rtgrcmvttd hkvsidcpws iystvialtf svpfrtthsl lssgtrkyvq
      661 vcvqnlseld fqlsdsylvd tgdstdlqlv plntqsqqpi yskqsvffvw elkwteeppp
      721 slhcrfsvgf spaseeqlsi slkpytyefk venfftlynv kaeifppsgm eycrtgslcs
      781 levlitrlsd llevdkdeal tesdehfstk lmyevvdnss nwavcgkscg vismpvaara
      841 thrvhmevmp lfagylplpd vrlfkylphh sahssqldad swiendslsv dkhgddqpds
      901 sslksrgsvh sacssehkgl pmprlqalpa gqvfnsssgt qvlvipsqdd hvlevsvt
//
LOCUS       XP_054181901             529 aa            linear   PRI 20-MAR-2023
DEFINITION  brain-specific angiogenesis inhibitor 1-associated protein 2-like
            protein 2 isoform X6 [Homo sapiens].
ACCESSION   XP_054181901
VERSION     XP_054181901.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325926.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..529
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..529
                     /product="brain-specific angiogenesis inhibitor
                     1-associated protein 2-like protein 2 isoform X6"
                     /calculated_mol_wt=58856
     CDS             1..529
                     /gene="BAIAP2L2"
                     /coded_by="XM_054325926.1:169..1758"
                     /db_xref="GeneID:80115"
                     /db_xref="HGNC:HGNC:26203"
                     /db_xref="MIM:617536"
ORIGIN      
        1 mapemdqfyr stmaiyksim eqfnpalenl vylgnnylra fhalseaaev yfsaiqkige
       61 ralqsptsqi lgeilvqmsd tqrhlnsdle vvvqtfhggl lqhmekntkl dmqfikdsrq
      121 hyeleyrhra anlekcmsel wrmerkrdkn vremkesvnr lhaqmqafvs esqraaelee
      181 krryrflaek hlllsntflq ffgrargmlq nrvllwkeqs easrspsrah spgllgpalg
      241 ppypsgrltp tcldmpprpl gefssprsrh gsgsygtepd arpasqlepd rrslprtpsa
      301 sslysgsaqs srsnsfgerp gggggarrvr alvshsegan htllrfsagd vvevlvpeaq
      361 ngwlygkleg ssasgwfpea yvkaleegpv npmtpvtpmt smtsmspmtp mnpgnelpsr
      421 syplrgshsl ddlldrpgns iapseywdgq srsrtpsrvp srapspappp lpssrrssmg
      481 stavatdvkk lmsseqyppq elfprgtnpf atvklrptit ndrsaplir
//
LOCUS       XP_054210408            2157 aa            linear   PRI 20-MAR-2023
DEFINITION  beta/gamma crystallin domain-containing protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054210408
VERSION     XP_054210408.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354433.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2157
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2157
                     /product="beta/gamma crystallin domain-containing protein
                     1 isoform X1"
                     /calculated_mol_wt=234380
     CDS             1..2157
                     /gene="CRYBG1"
                     /gene_synonym="AIM1; ST4"
                     /coded_by="XM_054354433.1:193..6666"
                     /db_xref="GeneID:202"
                     /db_xref="HGNC:HGNC:356"
                     /db_xref="MIM:601797"
ORIGIN      
        1 mplsppaqgd pgepspcrpp kkhttfhlwr skkkqqpapp dcgvfvphpl papagearfs
       61 dlpdmgilng enkitiskss kparaldvvd gkyvvrdsqe fplhcgesqf fhttsealgs
      121 lllesgifkk sraqppednr rkpvlgklgt lftagrrrns rnglesptrs nakplspkdv
      181 vaspklpere sersrsqssq lkqtdtseeg sprenpreae gelpesggpa appdaelspr
      241 wsssaaavav qqchendspq lepleaegep fpdatttakq lhsspgnssr qenaetpars
      301 pgedaspgag heqeaflgvr gapgsptqer pagglgeapn gapsvcaeeg slgprnarsq
      361 prkgasdlpg eppaegaaht assaqadcta rpkghahpak vltldiylsk tegaqvdepv
      421 vitpraedcg dwddmekrss grrsgrrrgs qkstdspgad aelpesaard davfddevap
      481 naasdnasae kkvkspraal dggvasaasp eskpspgtkg qlrgesdrsk qpppassptk
      541 rkgrsralea vpappasgpr apakesppkr vpdpspvtkg taaesgeeaa raiprelpvk
      601 sssllpeikp ehkrgplpnh fngraeggrs relgraagap gasdadglkp rnhfgvgrst
      661 vttkvtlpak pkhvelnlkt pknldslgne hnpfsqpvhk gntatkislf enkrtnsspr
      721 htdirgqrnt passktfvgr aklnlakkak emeqpekkvm pnspqngvlv ketaietkvt
      781 vseeeilpat rgmngdssen qalgpqpnqd dkadvqtdag clsepvasal ipvkdhklle
      841 kedseaadsk slvlenvtdt aqdipttvdt kdlpptampk pqhtfsdsqs paesspgpsl
      901 slsapapgdv pkdtcvqspi ssfpctdlkv senhkgcvlp vsrqnnekmp llelggettp
      961 plsterspea vgsecpsrvl vqvrsfvlpv estqdvssqv ipessevrev qlptchsnep
     1021 evvsvascap pqeevlgneh shctaelaak sgpqvippas ektlpiqaqs qgsrtplmae
     1081 ssptnspssg nhlatpqrpd qtvtngqdsp asllnisags ddsvfdsssd mekfteiikq
     1141 mdsavcmpmk rkkarmpnsp aphfamppih edhlekvfdp kvftfglgkk kesqpemspa
     1201 lhlmqnldtk sklrpkrasa eqsvlfkslh tntngnsepl vmpeindken rdvtnggikr
     1261 srleksalfs sllsslpqdk ifspsvtsvn tmttafstsq ngslsqssvs qpttegappc
     1321 glnkeqsnll pdnslkvfnf nssstshssl kspshmekyp qkektkedld srsnlhlpet
     1381 kfselsklkn ddmekanhie sviksnlpnc ansdtdfmgl fkssrydpsi sfsgmslsdt
     1441 mtlrgsvqnk lnprpgkvvi ysepdvsekc ievfsdiqdc sswslspvil ikvvrgcwil
     1501 yeqpnfeghs ipleegelel sglwgiedil erheeaesdk pvvigsirhv vqdyrvshid
     1561 lftepeglgi lssyfddtee mqgfgvmqkt csmkvhwgtw liyeepgfqg vpfilepgey
     1621 pdlsfwdtea ayigsmrplk mggrkvefpt dpkvvvyekp ffegkcvele tgmcsfvmeg
     1681 geteeatgdd hlpftsvgsm kvlrgiwvay ekpgftghqy lleegeyrdw kawggyngel
     1741 qslrpilgdf snahmimyse knfgskgssi dvlgivanlk etgygvktqs invlsgvwva
     1801 yenpdftgeq yildkgfyts fedwggknck issvqpicld sftgprrrnq ihlfsepqfq
     1861 ghsqsfeett sqiddsfstk scrvsggswv vydgenftgn qyvleeghyp clsamgcppg
     1921 atfkslrfid vefseptiil feredfkgkk ielnaetvnl rslgfntqir svqviggiwv
     1981 tyeygsyrgr qfllspaevp nwyefsgcrq igslrpfvqk riyfrlrnka tglfmstngn
     2041 ledlkllriq vmedvgaddq iwiyqegcik criaedcclt ivgslvtsgs klglaldqna
     2101 dsqfwslksd griysklkpn lvldikggtq ydqnhiilnt vskekftqvw eamvlyt
//
LOCUS       XP_047301001             262 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124906656 [Homo sapiens].
ACCESSION   XP_047301001
VERSION     XP_047301001.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047445045.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..262
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..262
                     /product="uncharacterized protein LOC124906656"
                     /calculated_mol_wt=28350
     CDS             1..262
                     /gene="LOC124906656"
                     /coded_by="XM_047445045.1:608..1396"
                     /db_xref="GeneID:124906656"
ORIGIN      
        1 mvsgrwappr qgwasrrppq aqvvlksgsp gpasqqvskl fwlnscpapn rlcrprtfss
       61 qalrahllpp gglyssstgw rtasagpala sqgplqaqll pprrppgaki algllggrqg
      121 lgpgrsrwge swawrlpwea tagsadtllq pelglfshwe kgcgseelgc rnfgvykrrr
      181 elsqkslfag rwemqpggta gqcgrqrpgl lklasqthlq ppgapsgpss sswlhlqagl
      241 wpdsrsqqrl wtqllpssqr pw
//
LOCUS       XP_054220115             224 aa            linear   PRI 20-MAR-2023
DEFINITION  multivesicular body subunit 12B isoform X5 [Homo sapiens].
ACCESSION   XP_054220115
VERSION     XP_054220115.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364140.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..224
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..224
                     /product="multivesicular body subunit 12B isoform X5"
                     /calculated_mol_wt=24766
     CDS             1..224
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /coded_by="XM_054364140.1:281..955"
                     /db_xref="GeneID:89853"
                     /db_xref="HGNC:HGNC:23368"
ORIGIN      
        1 mklidikdtl pvgfipiqet vdtqevafrk krlcikfipr dsteaaicdi rimgrtkqap
       61 pqytfigeln smgiwyrmgr vprnhdssqp ttpsqssaas tpapnlprhi sltlpatfrg
      121 rnstrtdyey qhsnlyaisa lprsppwqll sssagscehh sllytlsyas qgpppahpll
      181 waqallsefp cpgnecplrd htyaaspall ravlcqiitl llks
//
LOCUS       NP_079356                308 aa            linear   PRI 23-MAR-2023
DEFINITION  isoaspartyl peptidase/L-asparaginase [Homo sapiens].
ACCESSION   NP_079356
VERSION     NP_079356.3
DBSOURCE    REFSEQ: accession NM_025080.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 308)
  AUTHORS   Seike M, Asahara SI, Inoue H, Kudo M, Kanno A, Yokoi A, Suzuki H,
            Kimura-Koyanagi M, Kido Y and Ogawa W.
  TITLE     l-Asparaginase regulates mTORC1 activity via a TSC2-dependent
            pathway in pancreatic beta cells
  JOURNAL   Biochem Biophys Res Commun 652, 121-130 (2023)
   PUBMED   36842323
  REMARK    GeneRIF: l-Asparaginase regulates mTORC1 activity via a
            TSC2-dependent pathway in pancreatic beta cells.
REFERENCE   2  (residues 1 to 308)
  AUTHORS   Morais SB, Pirolla RAS, Frota NF, Lourenzoni MR, Gozzo FC and Souza
            TACB.
  TITLE     The role of the quaternary structure in the activation of human
            L-asparaginase
  JOURNAL   J Proteomics 224, 103818 (2020)
   PUBMED   32434038
  REMARK    GeneRIF: The role of the quaternary structure in the activation of
            human L-asparaginase.
REFERENCE   3  (residues 1 to 308)
  AUTHORS   Lv XF, Hong HQ, Liu L, Cui SH, Ren CC, Li HY, Zhang XA, Zhang LD,
            Wei TX, Liu JJ, Xing WY, Fu H and Yan SJ.
  TITLE     RNAi-mediated downregulation of asparaginase-like protein 1
            inhibits growth and promotes apoptosis of human cervical cancer
            line SiHa
  JOURNAL   Mol Med Rep 18 (1), 931-937 (2018)
   PUBMED   29767260
  REMARK    GeneRIF: ASRGL1 was closely associated with growth and apoptosis in
            cervical cancer. Therefore, ASRGL1 may be a novel, potentially
            effective anticervical cancer therapy.
REFERENCE   4  (residues 1 to 308)
  AUTHORS   Begcevic I, Brinc D, Brown M, Martinez-Morillo E, Goldhardt O,
            Grimmer T, Magdolen V, Batruch I and Diamandis EP.
  TITLE     Brain-related proteins as potential CSF biomarkers of Alzheimer's
            disease: A targeted mass spectrometry approach
  JOURNAL   J Proteomics 182, 12-20 (2018)
   PUBMED   29684683
  REMARK    GeneRIF: The strongest associations between protein abundance and
            Alzheimer's disease severity were found for APLP1, CNTN2 and SPP1
            proteins The best discrimination between mild cognitive impairment
            vs. controls was observed with a model combining APLP1 and SPP1
            proteins.
REFERENCE   5  (residues 1 to 308)
  AUTHORS   Huvila J, Laajala TD, Edqvist PH, Mardinoglu A, Talve L, Ponten F,
            Grenman S, Carpen O, Aittokallio T and Auranen A.
  TITLE     Combined ASRGL1 and p53 immunohistochemistry as an independent
            predictor of survival in endometrioid endometrial carcinoma
  JOURNAL   Gynecol Oncol 149 (1), 173-180 (2018)
   PUBMED   29486992
  REMARK    GeneRIF: A panel including p53 and ASRGL1 immunohistochemistry was
            identified as the most accurate predictor of relapse-free and
            disease-specific survival. Within this panel, patients were
            allocated into high- (5.9%), intermediate- (29.5%) and low- (64.6%)
            risk groups where high-risk patients had a 30-fold risk (P<0.001)
            of dying of EEC compared to the low-risk group.
REFERENCE   6  (residues 1 to 308)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   7  (residues 1 to 308)
  AUTHORS   Cantor JR, Stone EM, Chantranupong L and Georgiou G.
  TITLE     The human asparaginase-like protein 1 hASRGL1 is an Ntn hydrolase
            with beta-aspartyl peptidase activity
  JOURNAL   Biochemistry 48 (46), 11026-11031 (2009)
   PUBMED   19839645
  REMARK    GeneRIF: ASRGL1 exhibits beta-aspartyl peptidase activity
            consistent with plant-type asparaginases. ASRGL1 is shown to be an
            Ntn hydrolase for which Thr168 serves as the essential N-terminal
            nucleophile for intramolecular processing and catalysis.
REFERENCE   8  (residues 1 to 308)
  AUTHORS   Weidle UH, Evtimova V, Alberti S, Guerra E, Fersis N and Kaul S.
  TITLE     Cell growth stimulation by CRASH, an asparaginase-like protein
            overexpressed in human tumors and metastatic breast cancers
  JOURNAL   Anticancer Res 29 (4), 951-963 (2009)
   PUBMED   19414332
  REMARK    GeneRIF: Overexpression of CRASH is associated with metastatic
            breast cancer.
REFERENCE   9  (residues 1 to 308)
  AUTHORS   Kim JM, Lee KH, Jeon YJ, Oh JH, Jeong SY, Song IS, Kim JM, Lee DS
            and Kim NS.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
REFERENCE   10 (residues 1 to 308)
  AUTHORS   Bush LA, Herr JC, Wolkowicz M, Sherman NE, Shore A and Flickinger
            CJ.
  TITLE     A novel asparaginase-like protein is a sperm autoantigen in rats
  JOURNAL   Mol Reprod Dev 62 (2), 233-247 (2002)
   PUBMED   11984834
  REMARK    GeneRIF: Human ALP cDNA was subsequently cloned. It showed 77%
            identity to the rat ALP sequence and the gene, ASRGL1
            (asparaginase-like 1), mapped to chromosome locus 11q12.3.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP308677.1, BC021295.2, AP003064.2 and DT220454.1.
            On Apr 13, 2007 this sequence version replaced NP_079356.2.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.75700.1,
                                           SRR7346977.764837.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     Protein         1..308
                     /product="isoaspartyl peptidase/L-asparaginase"
                     /EC_number="3.5.1.1"
                     /EC_number="3.4.19.5"
                     /note="asparaginase-like 1 protein; L-asparagine
                     amidohydrolase; L-asparaginase; asparaginase like 1;
                     asparaginase-like protein 1; beta-aspartyl-peptidase;
                     isoaspartyl dipeptidase; testis secretory sperm-binding
                     protein Li 242mP"
                     /calculated_mol_wt=31923
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q7L266.2)"
     Region          2..291
                     /region_name="ASRGL1_like"
                     /note="Metazoan L-Asparaginase type 2; cd04702"
                     /db_xref="CDD:271338"
     Site            order(82,84,86..87,112,114..121,124..125,192..197,
                     203..204,208,210,223,227..229,232,236,240,254,258..259)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:271338"
     CDS             1..308
                     /gene="ASRGL1"
                     /gene_synonym="ALP; ALP1; CRASH"
                     /coded_by="NM_025080.4:139..1065"
                     /db_xref="CCDS:CCDS8019.1"
                     /db_xref="GeneID:80150"
                     /db_xref="HGNC:HGNC:16448"
                     /db_xref="MIM:609212"
ORIGIN      
        1 mnpivvvhgg gagpiskdrk ervhqgmvra atvgygilre ggsavdaveg avvaleddpe
       61 fnagcgsvln tngevemdas imdgkdlsag avsavqcian piklarlvme ktphcfltdq
      121 gaaqfaaamg vpeipgeklv ternkkrlek ekhekgaqkt dcqknlgtvg avaldckgnv
      181 ayatstggiv nkmvgrvgds pclgaggyad ndigavsttg hgesilkvnl arltlfhieq
      241 gktveeaadl slgymksrvk glgglivvsk tgdwvakwts tsmpwaaakd gklhfgidpd
      301 dttitdlp
//
LOCUS       NP_001387553            1129 aa            linear   PRI 23-MAR-2023
DEFINITION  neural cell adhesion molecule 1 isoform 31 precursor [Homo
            sapiens].
ACCESSION   NP_001387553
VERSION     NP_001387553.1
DBSOURCE    REFSEQ: accession NM_001400624.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1129)
  AUTHORS   Chen Q, Zheng X, Lin Q and Chen J.
  TITLE     Retrospective Analysis of the Expression of CD56 in Multiple
            Myeloma with Bone-Related Extramedullary Diseases
  JOURNAL   Ann Clin Lab Sci 53 (1), 14-20 (2023)
   PUBMED   36889774
  REMARK    GeneRIF: Retrospective Analysis of the Expression of CD56 in
            Multiple Myeloma with Bone-Related Extramedullary Diseases.
            Review article
REFERENCE   2  (residues 1 to 1129)
  AUTHORS   Liang T, Peng Z, Li C, Huang J, Wang H, Bu C, Li J, Zheng Y, Feng
            X, Li H and Chen C.
  TITLE     Evaluating the prognostic value of CD56 in pediatric acute myeloid
            leukemia
  JOURNAL   BMC Cancer 22 (1), 1339 (2022)
   PUBMED   36544113
  REMARK    GeneRIF: Evaluating the prognostic value of CD56 in pediatric acute
            myeloid leukemia.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1129)
  AUTHORS   Seymour F, Cavenagh JD, Mathews J and Gribben JG.
  TITLE     NK cells CD56bright and CD56dim subset cytokine loss and exhaustion
            is associated with impaired survival in myeloma
  JOURNAL   Blood Adv 6 (17), 5152-5159 (2022)
   PUBMED   35834731
  REMARK    GeneRIF: NK cells CD56bright and CD56dim subset cytokine loss and
            exhaustion is associated with impaired survival in myeloma.
REFERENCE   4  (residues 1 to 1129)
  AUTHORS   Picard LK, Claus M, Fasbender F and Watzl C.
  TITLE     Human NK cells responses are enhanced by CD56 engagement
  JOURNAL   Eur J Immunol 52 (9), 1441-1451 (2022)
   PUBMED   35775327
  REMARK    GeneRIF: Human NK cells responses are enhanced by CD56 engagement.
REFERENCE   5  (residues 1 to 1129)
  AUTHORS   Cottini F, Rodriguez J, Hughes T, Sharma N, Guo L, Lozanski G, Liu
            B, Cocucci E, Yang Y and Benson D.
  TITLE     Redefining CD56 as a Biomarker and Therapeutic Target in Multiple
            Myeloma
  JOURNAL   Mol Cancer Res 20 (7), 1083-1095 (2022)
   PUBMED   35380709
  REMARK    GeneRIF: Redefining CD56 as a Biomarker and Therapeutic Target in
            Multiple Myeloma.
REFERENCE   6  (residues 1 to 1129)
  AUTHORS   Rossell RJ, Malik A, Helfrich W, Kemshead JT and Patel K.
  TITLE     A discordance between the human muscle NCAM sequence and those seen
            in other NCAM cDNA clones
  JOURNAL   Biochim Biophys Acta 1130 (1), 95-96 (1992)
   PUBMED   1543753
REFERENCE   7  (residues 1 to 1129)
  AUTHORS   van Duijnhoven HL, Helfrich W, de Leij L, Roebroek AJ, van de Ven
            WJ, Healey K, Culverwell A, Rossell RJ, Kemshead JT and Patel K.
  TITLE     Splicing of the VASE exon of neural cell adhesion molecule (NCAM)
            in human small-cell lung carcinoma (SCLC)
  JOURNAL   Int J Cancer 50 (1), 118-123 (1992)
   PUBMED   1339414
REFERENCE   8  (residues 1 to 1129)
  AUTHORS   Lanier LL, Chang C, Azuma M, Ruitenberg JJ, Hemperly JJ and
            Phillips JH.
  TITLE     Molecular and functional analysis of human natural killer
            cell-associated neural cell adhesion molecule (N-CAM/CD56)
  JOURNAL   J Immunol 146 (12), 4421-4426 (1991)
   PUBMED   1710251
REFERENCE   9  (residues 1 to 1129)
  AUTHORS   Bello MJ, Salagnon N, Rey JA, Guichaoua MR, Berge-Lefranc JL,
            Jordan BR and Luciani JM.
  TITLE     Precise in situ localization of NCAM, ETS1, and D11S29 on human
            meiotic chromosomes
  JOURNAL   Cytogenet Cell Genet 52 (1-2), 7-10 (1989)
   PUBMED   2612216
REFERENCE   10 (residues 1 to 1129)
  AUTHORS   Dickson,G., Gower,H.J., Barton,C.H., Prentice,H.M., Elsom,V.L.,
            Moore,S.E., Cox,R.D., Quinn,C., Putt,W. and Walsh,F.S.
  TITLE     Human muscle neural cell adhesion molecule (N-CAM): identification
            of a muscle-specific sequence in the extracellular domain
  JOURNAL   Cell 50 (7), 1119-1130 (1987)
   PUBMED   2887295
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from FP884230.1, AP002853.4 and
            AP000880.4.
            
            Summary: This gene encodes a cell adhesion protein which is a
            member of the immunoglobulin superfamily. The encoded protein is
            involved in cell-to-cell interactions as well as cell-matrix
            interactions during development and differentiation. The encoded
            protein plays a role in the development of the nervous system by
            regulating neurogenesis, neurite outgrowth, and cell migration.
            This protein is also involved in the expansion of T lymphocytes, B
            lymphocytes and natural killer (NK) cells which play an important
            role in immune surveillance. This protein plays a role in signal
            transduction by interacting with fibroblast growth factor
            receptors, N-cadherin and other components of the extracellular
            matrix and by triggering signalling cascades involving FYN-focal
            adhesion kinase (FAK), mitogen-activated protein kinase (MAPK), and
            phosphatidylinositol 3-kinase (PI3K). One prominent isoform of this
            gene, cell surface molecule CD56, plays a role in several
            myeloproliferative disorders such as acute myeloid leukemia and
            differential expression of this gene is associated with
            differential disease progression. For example, increased expression
            of CD56 is correlated with lower survival in acute myeloid leukemia
            patients whereas increased severity of COVID-19 is correlated with
            decreased abundance of CD56-expressing NK cells in peripheral
            blood. Alternative splicing results in multiple transcript variants
            encoding distinct protein isoforms. [provided by RefSeq, Aug 2020].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968540,
                              SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in immune response or antiviral
                                   activity
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1129
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.2"
     Protein         1..1129
                     /product="neural cell adhesion molecule 1 isoform 31
                     precursor"
                     /EC_number="2.7.11.1"
                     /note="antigen recognized by monoclonal antibody 5.1H11;
                     neural cell adhesion molecule, NCAM"
                     /calculated_mol_wt=118495
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2185
     Region          20..116
                     /region_name="IgI_1_NCAM-1"
                     /note="First immunoglobulin (Ig)-like domain of neural
                     cell adhesion molecule (NCAM-1); member of the I-set of Ig
                     superfamily (IgSF) domains; cd05865"
                     /db_xref="CDD:409451"
     Region          20..25
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409451"
     Region          28..32
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409451"
     Region          34..44
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409451"
     Site            order(35,37..38)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:409451"
     Region          50..56
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409451"
     Region          59..61
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409451"
     Region          69..75
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409451"
     Region          77..85
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409451"
     Region          92..100
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409451"
     Region          104..115
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409451"
     Region          124..190
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          135..139
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          148..152
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          172..176
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          211..307
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            222
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P13591.3)"
     Region          231..235
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          244..248
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          270..274
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          284..289
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          297..300
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          306..412
                     /region_name="IgI_NCAM-1"
                     /note="Immunoglobulin (Ig)-like I-set domain of Neural
                     Cell Adhesion Molecule 1 (NCAM-1); cd05869"
                     /db_xref="CDD:143277"
     Region          306..311
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:143277"
     Region          315..319
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:143277"
     Site            315
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P13591.3)"
     Region          324..332
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:143277"
     Region          338..344
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:143277"
     Region          347..350
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:143277"
     Site            347
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P13591.3)"
     Region          368..374
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:143277"
     Region          377..383
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:143277"
     Region          391..399
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:143277"
     Region          402..412
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:143277"
     Region          421..499
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          432..436
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Site            433
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P13591.3)"
     Region          445..449
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            459
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P13591.3)"
     Region          472..476
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          486..491
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            488
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P13591.3)"
     Region          511..598
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(594..595,597..598)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          612..693
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(691..692,694..695)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            718..738
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P13591.3)"
     Site            779
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P13595; propagated from
                     UniProtKB/Swiss-Prot (P13591.3)"
     Site            783
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P13595; propagated from
                     UniProtKB/Swiss-Prot (P13591.3)"
     Region          <913..1108
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     CDS             1..1129
                     /gene="NCAM1"
                     /gene_synonym="CD56; MSK39; NCAM"
                     /coded_by="NM_001400624.1:194..3583"
                     /note="isoform 31 precursor is encoded by transcript
                     variant 31"
                     /db_xref="GeneID:4684"
                     /db_xref="HGNC:HGNC:7656"
                     /db_xref="MIM:116930"
ORIGIN      
        1 mlqtkdliwt lfflgtavsl qvdivpsqge isvgeskffl cqvagdakdk diswfspnge
       61 kltpnqqris vvwnddssst ltiynanidd agiykcvvtg edgseseatv nvkifqklmf
      121 knaptpqefr egedavivcd vvsslpptii wkhkgrdvil kkdvrfivls nnylqirgik
      181 ktdegtyrce grilargein fkdiqvivnv pptiqarqni vnatanlgqs vtlvcdaegf
      241 peptmswtkd geqieqeedd ekyifsddss qltikkvdkn deaeyiciae nkageqdati
      301 hlkvfakpki tyvenqtame leeqvtltce asgdpipsit wrtstrniss eekaswtrpe
      361 kqetldghmv vrsharvssl tlksiqytda geyictasnt igqdsqsmyl evqyapklqg
      421 pvavytwegn qvnitcevfa ypsatiswfr dgqllpssny snikiyntps asylevtpds
      481 endfgnynct avnrigqesl efilvqadtp sspsidqvep ysstaqvqfd epeatggvpi
      541 lkykaewrav geevwhskwy dakeasmegi vtivglkpet tyavrlaaln gkglgeisaa
      601 sefktqpvre psapklegqm gedgnsikvn likqddggsp irhylvryra lssewkpeir
      661 lpsgsdhvml ksldwnaeye vyvvaenqqg kskaahfvfr tsaqptaipa ngsptsglst
      721 gaivgilivi fvlllvvvdi tcyflnkcgl fmciavnlcg kagpgakgkd meegkaafsk
      781 deskepivev rteeertpnh dggkhtepne ttpltepelp adttatvedm lpsvttvttn
      841 sdtitetfat aqnsptsett tltssiappa tatpdsnsvp agqatpskgp sasapspapa
      901 sapkvaplvd lsdtptstpa asnlsssvla nqgavlspsa pagvgeaska ppaskptpap
      961 vptptgaasp laaaaapate apqakqeaps tkgpdpeptq pgaakspaea atalaspkse
     1021 aasvsttnps qgedfkmdeg nfktpdidla kdvfaalgsp apaagasgqa pelapstads
     1081 svspapakte kgpveakpec qetetkpapa evktvpndat qtkeneska
//
LOCUS       NP_001400857             785 aa            linear   PRI 24-MAR-2023
DEFINITION  forkhead box protein M1 isoform 9 [Homo sapiens].
ACCESSION   NP_001400857
VERSION     NP_001400857.1
DBSOURCE    REFSEQ: accession NM_001413928.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 785)
  AUTHORS   Kang T, Liu L, Tan F, Zhang D, Yu L, Jiang H, Qian W, Hua J and
            Zheng Z.
  TITLE     Inhibition of YTHDF1 prevents hypoxia-induced pulmonary artery
            smooth muscle cell proliferation by regulating Foxm1 translation in
            an m6A-dependent manner
  JOURNAL   Exp Cell Res 424 (2), 113505 (2023)
   PUBMED   36736607
  REMARK    GeneRIF: Inhibition of YTHDF1 prevents hypoxia-induced pulmonary
            artery smooth muscle cell proliferation by regulating Foxm1
            translation in an m6A-dependent manner.
REFERENCE   2  (residues 1 to 785)
  AUTHORS   Wang YL, Wang Q, Li H, Wang CC, Ma YL and Han Z.
  TITLE     Sestrin2 mediates FOXM1 expression to block the EMT process in
            non-small cell lung cancer through the AMPK/YAP pathway
  JOURNAL   Neoplasma 70 (1), 46-57 (2023)
   PUBMED   36620877
  REMARK    GeneRIF: Sestrin2 mediates FOXM1 expression to block the EMT
            process in non-small cell lung cancer through the AMPK/YAP pathway.
REFERENCE   3  (residues 1 to 785)
  AUTHORS   Tang Q, Liu C, Zhang S, He L, Liu Y, Wang J, Zhao X and Li X.
  TITLE     FOXM1 increases hTERT protein stability and indicates poor
            prognosis in gastric cancer
  JOURNAL   Neoplasia 36, 100863 (2023)
   PUBMED   36528911
  REMARK    GeneRIF: FOXM1 increases hTERT protein stability and indicates poor
            prognosis in gastric cancer.
REFERENCE   4  (residues 1 to 785)
  AUTHORS   Peng H, Ye T, Deng L, Yang X, Jiang Z and Guo J.
  TITLE     Sequential Treatment with Activin and Hepatocyte Growth Factor
            Induces FOXM1 to Promote Colorectal Cancer Liver Metastasis
  JOURNAL   Can J Gastroenterol Hepatol 2022, 8996203 (2022)
   PUBMED   36591565
  REMARK    GeneRIF: Sequential Treatment with Activin and Hepatocyte Growth
            Factor Induces FOXM1 to Promote Colorectal Cancer Liver Metastasis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 785)
  AUTHORS   Rachmadi L, Billianti Susanto YD, Sitinjak D, Manatar AF, Saraswati
            M and Adham M.
  TITLE     HPV Infection is Associated with FoxM1 Overexpression in Dysplastic
            Changes of Sinonasal Inverted Papilloma
  JOURNAL   Asian Pac J Cancer Prev 23 (12), 4293-4298 (2022)
   PUBMED   36580012
  REMARK    GeneRIF: HPV Infection is Associated with FoxM1 Overexpression in
            Dysplastic Changes of Sinonasal Inverted Papilloma.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 785)
  AUTHORS   Luscher-Firzlaff JM, Westendorf JM, Zwicker J, Burkhardt H,
            Henriksson M, Muller R, Pirollet F and Luscher B.
  TITLE     Interaction of the fork head domain transcription factor MPP2 with
            the human papilloma virus 16 E7 protein: enhancement of
            transformation and transactivation
  JOURNAL   Oncogene 18 (41), 5620-5630 (1999)
   PUBMED   10523841
REFERENCE   7  (residues 1 to 785)
  AUTHORS   Korver W, Roose J, Heinen K, Weghuis DO, de Bruijn D, van Kessel AG
            and Clevers H.
  TITLE     The human TRIDENT/HFH-11/FKHL16 gene: structure, localization, and
            promoter characterization
  JOURNAL   Genomics 46 (3), 435-442 (1997)
   PUBMED   9441747
REFERENCE   8  (residues 1 to 785)
  AUTHORS   Yao KM, Sha M, Lu Z and Wong GG.
  TITLE     Molecular analysis of a novel winged helix protein, WIN. Expression
            pattern, DNA binding property, and alternative splicing within the
            DNA binding domain
  JOURNAL   J Biol Chem 272 (32), 19827-19836 (1997)
   PUBMED   9242644
REFERENCE   9  (residues 1 to 785)
  AUTHORS   Ye H, Kelly TF, Samadani U, Lim L, Rubio S, Overdier DG, Roebuck KA
            and Costa RH.
  TITLE     Hepatocyte nuclear factor 3/fork head homolog 11 is expressed in
            proliferating epithelial and mesenchymal cells of embryonic and
            adult tissues
  JOURNAL   Mol Cell Biol 17 (3), 1626-1641 (1997)
   PUBMED   9032290
REFERENCE   10 (residues 1 to 785)
  AUTHORS   Westendorf JM, Rao PN and Gerace L.
  TITLE     Cloning of cDNAs for M-phase phosphoproteins recognized by the MPM2
            monoclonal antibody and determination of the phosphorylated epitope
  JOURNAL   Proc Natl Acad Sci U S A 91 (2), 714-718 (1994)
   PUBMED   8290587
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005911.6 and AC005841.3.
            
            Summary: The protein encoded by this gene is a transcriptional
            activator involved in cell proliferation. The encoded protein is
            phosphorylated in M phase and regulates the expression of several
            cell cycle genes, such as cyclin B1 and cyclin D1. Several
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.3788855.1,
                                           SRR14038197.1268806.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..785
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.33"
     Protein         1..785
                     /product="forkhead box protein M1 isoform 9"
                     /note="Forkhead, drosophila, homolog-like 16; M-phase
                     phosphoprotein 2; HNF-3/fork-head homolog 11;
                     transcription factor Trident; MPM-2 reactive
                     phosphoprotein 2; forkhead-related protein FKHL16;
                     winged-helix factor from INS-1 cells; hepatocyte nuclear
                     factor 3 forkhead homolog 11; forkhead box M1-D"
                     /calculated_mol_wt=86796
     Region          235..311
                     /region_name="FH_FOXM"
                     /note="Forkhead (FH) domain found in the Forkhead box
                     protein M (FOXM) subfamily; cd20029"
                     /db_xref="CDD:410803"
     Site            order(235,239..240,258..259,262,277,282..283,285..286,289,
                     296,305,307)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410803"
     Region          488..>733
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     CDS             1..785
                     /gene="FOXM1"
                     /gene_synonym="FKHL16; FOXM1A; FOXM1B; FOXM1C; HFH-11;
                     HFH11; HNF-3; INS-1; MPHOSPH2; MPP-2; MPP2; PIG29;
                     TRIDENT"
                     /coded_by="NM_001413928.1:303..2660"
                     /note="isoform 9 is encoded by transcript variant 9"
                     /db_xref="GeneID:2305"
                     /db_xref="HGNC:HGNC:3818"
                     /db_xref="MIM:602341"
ORIGIN      
        1 mktsprrpli lkrrrlplpv qnapsetsee epkrspaqqe snqaeaskev aesnsckfpa
       61 gikiinhptm pntqvvaipn nanihsiita ltakgkesgs sgpnkfilis cggaptqppg
      121 lrpqtqtsyd akrtevtlet lgpkpaardv nlprppgalc eqkretcdge aagctinnsl
      181 sniqwlrkms sdglgsrsik qemeekench leqrqvkvee psrpsaswqn svserppysy
      241 mamiqfains terkrmtlkd iytwiedhfp yfkhiakpgw knsirhnlsl hdmfvretsa
      301 ngkvsfwtih psanryltld qvfkqqkrpn pelrrnmtik telplgarrk mkpllprvss
      361 ylvpiqfpvn qslvlqpsvk vplplaaslm sselarhskr vriapkvfge qvvfgymskf
      421 fsgdlrdfgt pitslfnfif lclsvllaee giaplssagp gkeekllfge gfspllpvqt
      481 ikeeeiqpge emphlarpik vesppleewp spapsfkees shswedssqs ptprpkksys
      541 glrsptrcvs emlviqhrer rersrsrrkq hllppcvdep ellfsegpst srwaaelpfp
      601 adssdpasql sysqevggpf ktpiketlpi sstpsksvlp rtpeswrltp pakvggldfs
      661 pvqtsqgasd plpdplglmd lsttplqsap plespqrlls sepldlisvp fgnsspsdid
      721 vpkpgspepq vsglaanrsl teglvldtmn dslskilldi sfpgldedpl gpdninwsqf
      781 ipelq
//
LOCUS       NP_001332907             182 aa            linear   PRI 05-APR-2023
DEFINITION  probable peptidyl-tRNA hydrolase isoform 3 [Homo sapiens].
ACCESSION   NP_001332907
VERSION     NP_001332907.1
DBSOURCE    REFSEQ: accession NM_001345978.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 182)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 182)
  AUTHORS   Kuroha K, Zinoviev A, Hellen CUT and Pestova TV.
  TITLE     Release of Ubiquitinated and Non-ubiquitinated Nascent Chains from
            Stalled Mammalian Ribosomal Complexes by ANKZF1 and Ptrh1
  JOURNAL   Mol Cell 72 (2), 286-302 (2018)
   PUBMED   30244831
REFERENCE   3  (residues 1 to 182)
  AUTHORS   De Pereda JM, Waas WF, Jan Y, Ruoslahti E, Schimmel P and Pascual
            J.
  TITLE     Crystal structure of a human peptidyl-tRNA hydrolase reveals a new
            fold and suggests basis for a bifunctional activity
  JOURNAL   J Biol Chem 279 (9), 8111-8115 (2004)
   PUBMED   14660562
  REMARK    GeneRIF: arrangement of secondary structure elements generates a
            fold not previously reported for peptidyl-trna hydrolase and
            intermolecular contacts in the crystal asymmetric unit cell suggest
            a likely surface for protein-protein interactions
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL162426.20.
            
            Transcript Variant: This variant (3) lacks an alternate coding exon
            compared to variant 1, that causes a frameshift. The resulting
            isoform (3) has a shorter and distinct C-terminus compared to
            isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2152798,
                              SAMEA2161674 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..182
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     Protein         1..182
                     /product="probable peptidyl-tRNA hydrolase isoform 3"
                     /EC_number="3.1.1.29"
                     /note="probable peptidyl-tRNA hydrolase; PTH"
                     /calculated_mol_wt=19634
     Region          32..>138
                     /region_name="PTH"
                     /note="Peptidyl-tRNA hydrolase (PTH) is a monomeric
                     protein that cleaves the ester bond linking the nascent
                     peptide and tRNA when peptidyl-tRNA is released
                     prematurely from the ribosome. This ensures the recycling
                     of peptidyl-tRNAs into tRNAs produced through...; cl00352"
                     /db_xref="CDD:444858"
     Site            order(38,46,94..95,121)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238259"
     Site            46
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:238259"
     CDS             1..182
                     /gene="PTRH1"
                     /gene_synonym="C9orf115; PTH1"
                     /coded_by="NM_001345978.1:38..586"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS87693.1"
                     /db_xref="GeneID:138428"
                     /db_xref="HGNC:HGNC:27039"
ORIGIN      
        1 mrpggflgag qrlsramsrc vleprppgkr wmvaglgnpg lpgtrhsvgm avlgqlarrl
       61 gvaeswtrdr hcaadlalap lgdaqlvllr prrlmnangr svaraaelfg ltaeevylvh
      121 deldkplgrl alklggsarq cqgcgwvsga rrtlrrfrpm cwaaspllsr scclccwiep
      181 pt
//
LOCUS       NP_001252527             616 aa            linear   PRI 21-APR-2022
DEFINITION  zinc finger protein 211 isoform 4 [Homo sapiens].
ACCESSION   NP_001252527
VERSION     NP_001252527.1
DBSOURCE    REFSEQ: accession NM_001265598.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 616)
  AUTHORS   Becker KG, Canning RD, Nagle JW, Dehejia AM, Polymeropoulos MH, Lee
            IJ, Gado AM, Biddison WE and Drew PD.
  TITLE     Molecular cloning and mapping of a novel developmentally regulated
            human C2H2-type zinc finger
  JOURNAL   Mamm Genome 8 (4), 287-289 (1997)
   PUBMED   9096115
REFERENCE   2  (residues 1 to 616)
  AUTHORS   Becker KG, Nagle JW, Canning RD, Biddison WE, Ozato K and Drew PD.
  TITLE     Rapid isolation and characterization of 118 novel C2H2-type zinc
            finger cDNAs expressed in human brain
  JOURNAL   Hum Mol Genet 4 (4), 685-691 (1995)
   PUBMED   7633419
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA961612.1, DR002950.1, AK294869.1, AC003682.1 and BQ678885.1.
            
            Summary: This gene encodes a protein containing a
            Kruppel-associated box domain and multiple zinc finger domains.
            This protein may play a role in developmental processes.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (4) lacks an exon and includes an
            alternate exon in the coding region, but maintains the reading
            frame, compared to variant 1. The encoded isoform (4) is longer
            than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.3159136.1,
                                           SRR14038194.3771549.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..616
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     Protein         1..616
                     /product="zinc finger protein 211 isoform 4"
                     /note="zinc finger protein C2H2-25"
                     /calculated_mol_wt=70082
     Region          32..73
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          231..602
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          286..303
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          311..331
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          339..359
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          367..387
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          395..415
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(400,402,404,406..407,410..411,414,428,430,434..435,
                     438..439,442,456,458,460,462..463,466..467,470)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          423..443
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          451..471
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          507..527
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(512,514,516,518..519,522..523,526,540,542,546..547,
                     550..551,554,568,570,572,574..575,578..579,582)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          535..555
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          563..583
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          591..611
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..616
                     /gene="ZNF211"
                     /gene_synonym="C2H2-25; CH2H2-25; ZNF-25"
                     /coded_by="NM_001265598.3:180..2030"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS74468.1"
                     /db_xref="GeneID:10520"
                     /db_xref="HGNC:HGNC:13003"
                     /db_xref="MIM:601856"
ORIGIN      
        1 mlgfppgrpq lpvqlrpqtr matalrdpas gsvtfedvav yfsweewdll deaqkhlyfd
       61 vmlenfalts slglisswsh vvaqlglgev psvlhrmfmt pasarwdqrg pglhewhlgk
      121 gmssgcwcgv eheetpseqr isgervpqfr tskegsssqn adsceicclv lrdilhlaeh
      181 qgtncgqklh tcgkqfyisa nlqqhqrqhi teapfrsyvd tasftqsciv hvsekpftcr
      241 eirkdflanm rflhqdatqt gekpnnsnkc avafysgksh hnwgkcskaf shidtlvqdq
      301 riltreglfe cskcgkactr rcnliqhqkv hseerpyecn ecgkfftyys sfiihqrvht
      361 gerpyacpec gksfsqiysl nshrkvhtge rpyecgecgk sfsqrsnlmq hrrvhtgerp
      421 yecsecgksf sqnfsliyhq rvhtgerphe cnecgksfsr ssslihhrrl htgerpyecs
      481 kcgksfkqss sfsshrkvht gerpyvcgec gksfshssnl knhqrvhtge rpvecsecsk
      541 sfscksnlik hlrvhtgerp yecsecgksf sqsssliqhr rvhtgkrpyq csqcgksfgc
      601 ksvliqhqrv higekp
//
LOCUS       NP_001002836             382 aa            linear   PRI 24-DEC-2022
DEFINITION  zinc finger protein 787 isoform 1 [Homo sapiens].
ACCESSION   NP_001002836 XP_058999
VERSION     NP_001002836.2
DBSOURCE    REFSEQ: accession NM_001002836.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 382)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC024580.6, BC077728.1, KF573663.1 and AI037960.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 24, 2007 this sequence version replaced NP_001002836.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC077728.1, SRR1163655.155293.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2152474
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000610935.2/ ENSP00000478557.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..382
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     Protein         1..382
                     /product="zinc finger protein 787 isoform 1"
                     /note="transcription termination factor I interacting
                     peptide 20; TTF-I-interacting peptide 20"
                     /calculated_mol_wt=40297
     Region          1..65
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6DD87.4)"
     Region          <67..200
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          68..88
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(73,75,77,79..80,83..84,87,101,103,107..108,111..112,
                     115,129,131,133,135..136,139..140,143)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          96..116
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            117
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q6DD87.4)"
     Site            122
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (Q6DD87.4)"
     Region          124..144
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            132
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q6DD87.4)"
     Region          152..172
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          180..200
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          282..302
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          319..339
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          357..382
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6DD87.4)"
     CDS             1..382
                     /gene="ZNF787"
                     /gene_synonym="TIP20"
                     /coded_by="NM_001002836.4:135..1283"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS42634.1"
                     /db_xref="GeneID:126208"
                     /db_xref="HGNC:HGNC:26998"
ORIGIN      
        1 melreeawsp gpldsedqqm ashenpvdil imddddvpsw pptklsppqs appagppprp
       61 rppapyicne cgksfshwsk ltrhqrthtg erpnacadcg ktfsqsshlv qhrrihtgek
      121 pyaclecgkr fswssnlmqh qrihtgekpy tcpdcgrsft qskslakhrr shsglkpfvc
      181 prcgrgfsqp kslarhlrlh pelsgpgvaa kvlaasvrra kgpeeavaad geiaipvgdg
      241 egiivvgapg egaaaaaama gagakaagpr srrapapkpy vclecgkgfg hgagllahqr
      301 aqhgdglgaa ggeepahicv ecgegfvqga alrrhkkiha vgapsvcssc gqsyyragge
      361 eeddddeaag grcpecrgge gr
//
LOCUS       NP_001091999             553 aa            linear   PRI 25-DEC-2022
DEFINITION  thioredoxin domain-containing protein 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001091999
VERSION     NP_001091999.1
DBSOURCE    REFSEQ: accession NM_001098529.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 553)
  AUTHORS   Javadirad SM and Mokhtari M.
  TITLE     TXNDC2 joint molecular marker is associated with testis pathology
            and is an accurate predictor of sperm retrieval
  JOURNAL   Sci Rep 11 (1), 13064 (2021)
   PUBMED   34158577
  REMARK    GeneRIF: TXNDC2 joint molecular marker is associated with testis
            pathology and is an accurate predictor of sperm retrieval.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 553)
  AUTHORS   Chan MC, Savela J, Ollikainen RK, Teppo HR, Miinalainen I, Pirinen
            R, Kari EJM, Kuitunen H, Turpeenniemi-Hujanen T, Kuittinen O and
            Kuusisto MEL.
  TITLE     Testis-Specific Thioredoxins TXNDC2, TXNDC3, and TXNDC6 Are
            Expressed in Both Testicular and Systemic DLBCL and Correlate with
            Clinical Disease Presentation
  JOURNAL   Oxid Med Cell Longev 2021, 8026941 (2021)
   PUBMED   33603952
  REMARK    GeneRIF: Testis-Specific Thioredoxins TXNDC2, TXNDC3, and TXNDC6
            Are Expressed in Both Testicular and Systemic DLBCL and Correlate
            with Clinical Disease Presentation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 553)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 553)
  AUTHORS   Hancock DB, Soler Artigas M, Gharib SA, Henry A, Manichaikul A,
            Ramasamy A, Loth DW, Imboden M, Koch B, McArdle WL, Smith AV,
            Smolonska J, Sood A, Tang W, Wilk JB, Zhai G, Zhao JH, Aschard H,
            Burkart KM, Curjuric I, Eijgelsheim M, Elliott P, Gu X, Harris TB,
            Janson C, Homuth G, Hysi PG, Liu JZ, Loehr LR, Lohman K, Loos RJ,
            Manning AK, Marciante KD, Obeidat M, Postma DS, Aldrich MC,
            Brusselle GG, Chen TH, Eiriksdottir G, Franceschini N, Heinrich J,
            Rotter JI, Wijmenga C, Williams OD, Bentley AR, Hofman A, Laurie
            CC, Lumley T, Morrison AC, Joubert BR, Rivadeneira F, Couper DJ,
            Kritchevsky SB, Liu Y, Wjst M, Wain LV, Vonk JM, Uitterlinden AG,
            Rochat T, Rich SS, Psaty BM, O'Connor GT, North KE, Mirel DB,
            Meibohm B, Launer LJ, Khaw KT, Hartikainen AL, Hammond CJ, Glaser
            S, Marchini J, Kraft P, Wareham NJ, Volzke H, Stricker BH, Spector
            TD, Probst-Hensch NM, Jarvis D, Jarvelin MR, Heckbert SR, Gudnason
            V, Boezen HM, Barr RG, Cassano PA, Strachan DP, Fornage M, Hall IP,
            Dupuis J, Tobin MD and London SJ.
  TITLE     Genome-wide joint meta-analysis of SNP and SNP-by-smoking
            interaction identifies novel loci for pulmonary function
  JOURNAL   PLoS Genet 8 (12), e1003098 (2012)
   PUBMED   23284291
REFERENCE   5  (residues 1 to 553)
  AUTHORS   Maeda R, Tabata C, Tabata R, Eguchi R, Fujimori Y and Nakano T.
  TITLE     Is serum thioredoxin-1 a useful clinical marker for malignant
            pleural mesothelioma?
  JOURNAL   Antioxid Redox Signal 15 (3), 685-689 (2011)
   PUBMED   21375472
  REMARK    GeneRIF: The patients with advanced-stagemalignant pleural
            mesothelioma (MPM) showed higher levels of TRX than those with
            early-stage MPM.
REFERENCE   6  (residues 1 to 553)
  AUTHORS   Jimenez A, Johansson C, Ljung J, Sagemark J, Berndt KD, Ren B,
            Tibbelin G, Ladenstein R, Kieselbach T, Holmgren A, Gustafsson JA
            and Miranda-Vizuete A.
  TITLE     Human spermatid-specific thioredoxin-1 (Sptrx-1) is a two-domain
            protein with oxidizing activity
  JOURNAL   FEBS Lett 530 (1-3), 79-84 (2002)
   PUBMED   12387870
  REMARK    GeneRIF: spermatid-specific thioredoxin-1 (Sptrx-1) is a two-domain
            protein with oxidizing activity
REFERENCE   7  (residues 1 to 553)
  AUTHORS   Sadek CM, Damdimopoulos AE, Pelto-Huikko M, Gustafsson JA, Spyrou G
            and Miranda-Vizuete A.
  TITLE     Sptrx-2, a fusion protein composed of one thioredoxin and three
            tandemly repeated NDP-kinase domains is expressed in human testis
            germ cells
  JOURNAL   Genes Cells 6 (12), 1077-1090 (2001)
   PUBMED   11737268
  REMARK    GeneRIF: sperm specific expression, together with chromosomal
            assignment to a position as a potential locus for flagellar
            anomalies and male infertility phenotypes, suggests that it might
            be a novel component of the human sperm axonemal organization.
REFERENCE   8  (residues 1 to 553)
  AUTHORS   Miranda-Vizuete A, Ljung J, Damdimopoulos AE, Gustafsson JA, Oko R,
            Pelto-Huikko M and Spyrou G.
  TITLE     Characterization of Sptrx, a novel member of the thioredoxin family
            specifically expressed in human spermatozoa
  JOURNAL   J Biol Chem 276 (34), 31567-31574 (2001)
   PUBMED   11399755
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB032859.1, AK097656.1, AF080095.1, BC050132.1 and AC006238.1.
            
            Transcript Variant: This variant (2) uses a different splice site,
            resulting in a longer open reading frame through the use of an
            upstream start codon, compared to variant 1. The predicted protein
            (isoform 2) has a longer N-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK097656.1, HM005528.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..553
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.22"
     Protein         1..553
                     /product="thioredoxin domain-containing protein 2 isoform
                     2"
                     /note="sperm-specific thioredoxin 1; thioredoxin
                     domain-containing protein 2; sptrx-1; spermatid-specific
                     thioredoxin-1; thioredoxin domain containing 2
                     (spermatozoa); testicular tissue protein Li 215"
                     /calculated_mol_wt=60273
     Region          1..37
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VQ3.4)"
     Region          77..442
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VQ3.4)"
     Region          <79..390
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     Region          113..442
                     /region_name="22 X 15 AA approximate tandem repeat of
                     Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VQ3.4)"
     Site            362
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5XHX6; propagated from
                     UniProtKB/Swiss-Prot (Q86VQ3.4)"
     Site            392
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5XHX6; propagated from
                     UniProtKB/Swiss-Prot (Q86VQ3.4)"
     Region          457..550
                     /region_name="TRX_family"
                     /note="TRX family; composed of two groups: Group I, which
                     includes proteins that exclusively encode a TRX domain;
                     and Group II, which are composed of fusion proteins of TRX
                     and additional domains. Group I TRX is a small ancient
                     protein that alter the redox...; cd02947"
                     /db_xref="CDD:239245"
     Site            order(480,483)
                     /site_type="active"
                     /note="catalytic residues [active]"
                     /db_xref="CDD:239245"
     CDS             1..553
                     /gene="TXNDC2"
                     /gene_synonym="SPTRX; SPTRX1"
                     /coded_by="NM_001098529.2:203..1864"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS42414.1"
                     /db_xref="GeneID:84203"
                     /db_xref="HGNC:HGNC:16470"
                     /db_xref="MIM:617790"
ORIGIN      
        1 mdvdkelgme svkagasgkp emrlgtqeet segdanessl lvlssnvpll alefleiaqa
       61 kekaflpmvs htfhmrtees dasqegddlp kssantshpk qddspkssee tiqpkegdip
      121 kapeetiqsk kedlpkssek aiqpkesnip kssakpiqpk lgnipkasvk psqpkegdip
      181 kapeetiqsk kedlpkssee aiqpkegdip kssakpiqpk lgniaktsvk psqpkesdip
      241 kspeetiqpk egdipkssak piqpklgnip kasvkpsqpk egdiskspee aiqpkegdlp
      301 ksleeaiqpk egdipkspee aiqpkegdip ksleeaiqpk egdipkspee tiqpkkgdip
      361 kspeeaiqpk egdipkspkq aiqpkegdip ksleeaippk eidipkspee tiqpkeddsp
      421 ksleeatpsk egdilkpeee tmefpegdkv kvilskedfe aslkeagerl vavdfsatwc
      481 gpcrtirpff halsvkhedv vflevdadnc eevvrecaim cvptfqfykk eekvdelcga
      541 lkekleavia elk
//
LOCUS       NP_001185759             375 aa            linear   PRI 26-DEC-2022
DEFINITION  gastric triacylglycerol lipase isoform 4 precursor [Homo sapiens].
ACCESSION   NP_001185759
VERSION     NP_001185759.1
DBSOURCE    REFSEQ: accession NM_001198830.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 375)
  AUTHORS   Sams L, Amara S, Chakroun A, Coudre S, Paume J, Giallo J and
            Carriere F.
  TITLE     Constitutive expression of human gastric lipase in Pichia pastoris
            and site-directed mutagenesis of key lid-stabilizing residues
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1862 (10 Pt A), 1025-1034
            (2017)
   PUBMED   28694218
  REMARK    GeneRIF: site-directed mutagenesis the role of three key residues
            (K4, E225, R229) involved in salt bridges stabilizing the lid
            domain that controls the access to the active site and is part of
            the interfacial recognition site. Their substitution has an impact
            on the pH-dependent activity of rHGL and its relative activities on
            medium and long chain triglycerides.
REFERENCE   2  (residues 1 to 375)
  AUTHORS   Kong Y, Zheng Y, Jia Y, Li P and Wang Y.
  TITLE     Decreased LIPF expression is correlated with DGKA and predicts poor
            outcome of gastric cancer
  JOURNAL   Oncol Rep 36 (4), 1852-1860 (2016)
   PUBMED   27498782
  REMARK    GeneRIF: LIPFDGKA might serve as a potential possible biomarkers
            for diagnosis of gastric cancer, and their downregulation may bring
            new perspective into the investigation of gastric cancer prognosis
REFERENCE   3  (residues 1 to 375)
  AUTHORS   Zucchini C, Montesanto I, Falcone V, Azzaroli F, Pittalis MC and
            Farina A.
  TITLE     Intrahepatic Cholestasis of Pregnancy: mRNAs for LIPF and ELOVL4
            Genes Are Not Detectable in Circulating Maternal Plasma
  JOURNAL   Fetal Diagn Ther 38 (3), 238-240 (2015)
   PUBMED   25059952
  REMARK    GeneRIF: In patients with intrahepatic cholestasis of pregnancy,
            there was no elevation in LIPF mRNA in maternal circulation
            compared with controls.
REFERENCE   4  (residues 1 to 375)
  AUTHORS   Vardakou M, Sainsbury F, Rigby N, Mulholland F and Lomonossoff GP.
  TITLE     Expression of active recombinant human gastric lipase in Nicotiana
            benthamiana using the CPMV-HT transient expression system
  JOURNAL   Protein Expr Purif 81 (1), 69-74 (2012)
   PUBMED   21945702
  REMARK    GeneRIF: Recombinant human gastric lipase (hGL) was transiently
            expressed in Nicotiana benthamiana leaves using the CPMV-HT
            expression system.
REFERENCE   5  (residues 1 to 375)
  AUTHORS   Selvan A, Seniya C, Chandrasekaran SN, Siddharth N, Anishetty S and
            Pennathur G.
  TITLE     Molecular dynamics simulations of human and dog gastric lipases:
            insights into domain movements
  JOURNAL   FEBS Lett 584 (22), 4599-4605 (2010)
   PUBMED   20965171
  REMARK    GeneRIF: insights into the domain movements
REFERENCE   6  (residues 1 to 375)
  AUTHORS   Aoubala M, Bonicel J, Benicourt C, Verger R and De Caro A.
  TITLE     Tryptic cleavage of gastric lipases: location of the single
            disulfide bridge
  JOURNAL   Biochim Biophys Acta 1213 (3), 319-324 (1994)
   PUBMED   8049245
REFERENCE   7  (residues 1 to 375)
  AUTHORS   Rogalska E, Ransac S and Verger R.
  TITLE     Stereoselectivity of lipases. II. Stereoselective hydrolysis of
            triglycerides by gastric and pancreatic lipases
  JOURNAL   J Biol Chem 265 (33), 20271-20276 (1990)
   PUBMED   2243091
REFERENCE   8  (residues 1 to 375)
  AUTHORS   Bernback S and Blackberg L.
  TITLE     Human gastric lipase. The N-terminal tetrapeptide is essential for
            lipid binding and lipase activity
  JOURNAL   Eur J Biochem 182 (3), 495-499 (1989)
   PUBMED   2753032
REFERENCE   9  (residues 1 to 375)
  AUTHORS   Abrams CK, Hamosh M, Lee TC, Ansher AF, Collen MJ, Lewis JH,
            Benjamin SB and Hamosh P.
  TITLE     Gastric lipase: localization in the human stomach
  JOURNAL   Gastroenterology 95 (6), 1460-1464 (1988)
   PUBMED   3181673
REFERENCE   10 (residues 1 to 375)
  AUTHORS   Bodmer,M.W., Angal,S., Yarranton,G.T., Harris,T.J., Lyons,A.,
            King,D.J., Pieroni,G., Riviere,C., Verger,R. and Lowe,P.A.
  TITLE     Molecular cloning of a human gastric lipase and expression of the
            enzyme in yeast
  JOURNAL   Biochim Biophys Acta 909 (3), 237-244 (1987)
   PUBMED   3304425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP341513.1 and AL833751.1.
            
            Summary: This gene encodes gastric lipase, an enzyme involved in
            the digestion of dietary triglycerides in the gastrointestinal
            tract, and responsible for 30% of fat digestion processes occurring
            in human. It is secreted by gastric chief cells in the fundic
            mucosa of the stomach, and it hydrolyzes the ester bonds of
            triglycerides under acidic pH conditions. The gene is a member of a
            conserved gene family of lipases that play distinct roles in
            neutral lipid metabolism. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Nov 2010].
            
            Transcript Variant: This variant (4) uses an alternate in-frame
            splice junction at the 5' end of an exon compared to variant 1. The
            resulting isoform (4) lacks an internal segment compared to isoform
            1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL833751.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.31"
     Protein         1..375
                     /product="gastric triacylglycerol lipase isoform 4
                     precursor"
                     /EC_number="3.1.1.3"
                     /note="gastric triacylglycerol lipase; gastric lipase;
                     lipase, gastric"
                     /calculated_mol_wt=40063
     sig_peptide     1..25
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2771
     Region          14..367
                     /region_name="PLN02872"
                     /note="triacylglycerol lipase"
                     /db_xref="CDD:215470"
     CDS             1..375
                     /gene="LIPF"
                     /gene_synonym="GL; HGL; HLAL"
                     /coded_by="NM_001198830.2:113..1240"
                     /note="isoform 4 precursor is encoded by transcript
                     variant 4"
                     /db_xref="CCDS:CCDS65896.1"
                     /db_xref="GeneID:8513"
                     /db_xref="HGNC:HGNC:6622"
                     /db_xref="MIM:601980"
ORIGIN      
        1 mfsnansrsk mwllltmasl isvlgtthgl fgklhpgspe vtmnisqmit ywgypneeye
       61 vvtedgyile vnripygkkn sgntdagydv wlgnsrgntw arrnlyyspd svefwafsfd
      121 emakydlpat idfivkktgq kqlhyvghsq gttigfiafs tnpslakrik tfyalapvat
      181 vkytkslink lrfvpqslfk fifgdkifyp hnffdqflat evcsremlnl lcsnalfiic
      241 gfdsknfnts rldvylshnp agtsvqnmfh wtqavksgkf qaydwgspvq nrmhydqsqp
      301 pyynvtamnv piavwnggkd lladpqdvgl llpklpnliy hkeipfynhl dfiwamdapq
      361 evyndivsmi sedkk
//
LOCUS       NP_001036075             158 aa            linear   PRI 28-DEC-2022
DEFINITION  dysbindin domain-containing protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001036075
VERSION     NP_001036075.1
DBSOURCE    REFSEQ: accession NM_001042610.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 158)
  AUTHORS   Wiedemann C, Obika KB, Liebscher S, Jirschitzka J, Ohlenschlager O
            and Bordusa F.
  TITLE     Backbone and side chain resonance assignment of the intrinsically
            disordered human DBNDD1 protein
  JOURNAL   Biomol NMR Assign 16 (2), 237-246 (2022)
   PUBMED   35474152
  REMARK    GeneRIF: Backbone and side chain resonance assignment of the
            intrinsically disordered human DBNDD1 protein.
REFERENCE   2  (residues 1 to 158)
  AUTHORS   Nan H, Kraft P, Qureshi AA, Guo Q, Chen C, Hankinson SE, Hu FB,
            Thomas G, Hoover RN, Chanock S, Hunter DJ and Han J.
  TITLE     Genome-wide association study of tanning phenotype in a population
            of European ancestry
  JOURNAL   J Invest Dermatol 129 (9), 2250-2257 (2009)
   PUBMED   19340012
REFERENCE   3  (residues 1 to 158)
  AUTHORS   Locke M, Tinsley CL, Benson MA and Blake DJ.
  TITLE     TRIM32 is an E3 ubiquitin ligase for dysbindin
  JOURNAL   Hum Mol Genet 18 (13), 2344-2358 (2009)
   PUBMED   19349376
  REMARK    GeneRIF: TRIM32 is a widely expressed ubiquitin ligase and binds
            and ubiquitinates dysbindin.
REFERENCE   4  (residues 1 to 158)
  AUTHORS   Luciano M, Miyajima F, Lind PA, Bates TC, Horan M, Harris SE,
            Wright MJ, Ollier WE, Hayward C, Pendleton N, Gow AJ, Visscher PM,
            Starr JM, Deary IJ, Martin NG and Payton A.
  TITLE     Variation in the dysbindin gene and normal cognitive function in
            three independent population samples
  JOURNAL   Genes Brain Behav 8 (2), 218-227 (2009)
   PUBMED   19077176
  REMARK    GeneRIF: Our results therefore support involvement of the dysbindin
            gene in cognitive function
REFERENCE   5  (residues 1 to 158)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY166977.1, AK022644.1 and BC000700.2.
            
            Transcript Variant: This variant (1) differs in its 5' UTR and
            initiates translation at an alternate start codon, compared to
            variant 4. The encoded isoform (1) has  a shorter and distinct
            N-terminus, compared to isoform 4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.728627.1,
                                           SRR1803616.163482.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000002501.11/ ENSP00000002501.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..158
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     Protein         1..158
                     /product="dysbindin domain-containing protein 1 isoform 1"
                     /note="dysbindin domain-containing protein 1; dysbindin
                     (dystrobrevin binding protein 1) domain containing 1"
                     /calculated_mol_wt=16911
     Region          1..50
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9R9.2)"
     Region          16..144
                     /region_name="Dysbindin"
                     /note="Dysbindin (Dystrobrevin binding protein 1);
                     pfam04440"
                     /db_xref="CDD:427949"
     Region          93..158
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9R9.2)"
     Site            95
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9H9R9.2)"
     Site            119
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H9R9.2)"
     CDS             1..158
                     /gene="DBNDD1"
                     /coded_by="NM_001042610.3:116..592"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS42223.1"
                     /db_xref="GeneID:79007"
                     /db_xref="HGNC:HGNC:28455"
ORIGIN      
        1 meppegagtg eivkeaevpq aalgvpaqgt gdnghtpvee evggipvpap gllqvterrq
       61 plssvsslev hfdlldltel tdmsdqelae vfadsddenl ntespaglhp lpragylrsp
      121 swtrtraeqs hekqplgdpe rqatvldtfl tverpqed
//
LOCUS       NP_001373969             346 aa            linear   PRI 30-DEC-2022
DEFINITION  heparan sulfate glucosamine 3-O-sulfotransferase 5 [Homo sapiens].
ACCESSION   NP_001373969
VERSION     NP_001373969.1
DBSOURCE    REFSEQ: accession NM_001387040.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 346)
  AUTHORS   Wang Q, Xiang B, Deng W, Wu J, Li M, Ma X, Wang Y, Jiang L,
            McAlonan G, Chua SE, Sham PC, Hu X and Li T.
  TITLE     Genome-wide association analysis with gray matter volume as a
            quantitative phenotype in first-episode treatment-naive patients
            with schizophrenia
  JOURNAL   PLoS One 8 (9), e75083 (2013)
   PUBMED   24086445
  REMARK    Erratum:[PLoS One. 2015;10(4):e0122945. PMID: 25848962]
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 346)
  AUTHORS   Vieira AR, McHenry TG, Daack-Hirsch S, Murray JC and Marazita ML.
  TITLE     Candidate gene/loci studies in cleft lip/palate and dental
            anomalies finds novel susceptibility genes for clefts
  JOURNAL   Genet Med 10 (9), 668-674 (2008)
   PUBMED   18978678
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 346)
  AUTHORS   Chen J and Liu J.
  TITLE     Characterization of the structure of antithrombin-binding heparan
            sulfate generated by heparan sulfate 3-O-sulfotransferase 5
  JOURNAL   Biochim Biophys Acta 1725 (2), 190-200 (2005)
   PUBMED   16099108
  REMARK    GeneRIF: Structural analysis of 3-OST-5 HS(act) revealed that the
            antithrombin-binding site of 3-OST-5 HS(act) is located within a
            domain clustered with N-sulfated glucosamine units.
REFERENCE   4  (residues 1 to 346)
  AUTHORS   Duncan MB, Chen J, Krise JP and Liu J.
  TITLE     The biosynthesis of anticoagulant heparan sulfate by the heparan
            sulfate 3-O-sulfotransferase isoform 5
  JOURNAL   Biochim Biophys Acta 1671 (1-3), 34-43 (2004)
   PUBMED   15026143
  REMARK    GeneRIF: Results demonstrate that the human 3-O-sulfotransferase
            isoform 5 gene is capable of synthesizing anticoagulant heparan
            sulfate (HS) in CHO cells and may contribute to the biosynthesis of
            HS in humans.
REFERENCE   5  (residues 1 to 346)
  AUTHORS   Mochizuki H, Yoshida K, Gotoh M, Sugioka S, Kikuchi N, Kwon YD,
            Tawada A, Maeyama K, Inaba N, Hiruma T, Kimata K and Narimatsu H.
  TITLE     Characterization of a heparan sulfate 3-O-sulfotransferase-5, an
            enzyme synthesizing a tetrasulfated disaccharide
  JOURNAL   J Biol Chem 278 (29), 26780-26787 (2003)
   PUBMED   12740361
  REMARK    GeneRIF: Recombinant 3-OST-5 only exhibited sulfotransferase
            activity toward heparan sulfate and heparin. 3-OST-5 was highly
            expressed in fetal brain, followed by adult brain and spinal cord,
            and at very low or undetectable levels in other tissues.
REFERENCE   6  (residues 1 to 346)
  AUTHORS   Xia G, Chen J, Tiwari V, Ju W, Li JP, Malmstrom A, Shukla D and Liu
            J.
  TITLE     Heparan sulfate 3-O-sulfotransferase isoform 5 generates both an
            antithrombin-binding site and an entry receptor for herpes simplex
            virus, type 1
  JOURNAL   J Biol Chem 277 (40), 37912-37919 (2002)
   PUBMED   12138164
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL136446.14 and AL355498.10.
            
            Summary: HS3ST5 belongs to a group of heparan sulfate
            3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from
            3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan
            sulfate and heparin (Mochizuki et al., 2003 [PubMed
            12740361]).[supplied by OMIM, Mar 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.835822.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1966682,
                                           SAMEA1968968 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..346
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21-q22.1"
     Protein         1..346
                     /product="heparan sulfate glucosamine 3-O-sulfotransferase
                     5"
                     /EC_number="2.8.2.23"
                     /note="heparan sulfate 3-OST-5; h3-OST-5; heparan sulfate
                     3-O-sulfotransferase 5; heparan sulfate D-glucosaminyl
                     3-O-sulfotransferase 5; heparan sulfate (glucosamine)
                     3-O-sulfotransferase 5"
                     /calculated_mol_wt=40277
     Site            13..32
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZT8.1)"
     Region          90..330
                     /region_name="Sulfotransfer_3"
                     /note="Sulfotransferase family; cl21551"
                     /db_xref="CDD:451306"
     Site            287
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8IZT8.1)"
     CDS             1..346
                     /gene="HS3ST5"
                     /gene_synonym="3-OST-5; 3OST5; HS3OST5; NBLA04021"
                     /coded_by="NM_001387040.1:862..1902"
                     /db_xref="CCDS:CCDS34517.1"
                     /db_xref="GeneID:222537"
                     /db_xref="HGNC:HGNC:19419"
                     /db_xref="MIM:609407"
ORIGIN      
        1 mlfkqqawlr qkllvlgsla vgsllylvar vgsldrlqpi cpiegrlgga rtqaefplra
       61 lqfkrgllhe frkgnaskeq vrlhdlvqql pkaiiigvrk ggtralleml nlhpavvkas
      121 qeihffdnde nygkgiewyr kkmpfsypqq itiekspayf iteevperiy kmnssiklli
      181 ivrepttrai sdytqvlegk erknktyykf eklaidpntc evntkykavr tsiytkhler
      241 wlkyfpieqf hvvdgdrlit eplpelqlve kflnlppris qynlyfnatr gfyclrfnii
      301 fnkclagskg rihpevdpsv itklrkffhp fnqkfyqitg rtlnwp
//
LOCUS       NP_001129610            1054 aa            linear   PRI 30-DEC-2022
DEFINITION  ribosomal protein S6 kinase delta-1 isoform b [Homo sapiens].
ACCESSION   NP_001129610
VERSION     NP_001129610.1
DBSOURCE    REFSEQ: accession NM_001136138.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1054)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 1054)
  AUTHORS   Leparc GG and Mitra RD.
  TITLE     Non-EST-based prediction of novel alternatively spliced cassette
            exons with cell signaling function in Caenorhabditis elegans and
            human
  JOURNAL   Nucleic Acids Res 35 (10), 3192-3202 (2007)
   PUBMED   17452356
REFERENCE   3  (residues 1 to 1054)
  AUTHORS   Liu L, Yang C, Yuan J, Chen X, Xu J, Wei Y, Yang J, Lin G and Yu L.
  TITLE     RPK118, a PX domain-containing protein, interacts with
            peroxiredoxin-3 through pseudo-kinase domains
  JOURNAL   Mol Cells 19 (1), 39-45 (2005)
   PUBMED   15750338
  REMARK    GeneRIF: findings indicate that RPK118 is a PRDX3-binding protein
            that may be involved in transporting PRDX3 from the cytoplasm to
            its mitochondrial site of function or to other membrane structures
            via endosome trafficking.
REFERENCE   4  (residues 1 to 1054)
  AUTHORS   Manning G, Whyte DB, Martinez R, Hunter T and Sudarsanam S.
  TITLE     The protein kinase complement of the human genome
  JOURNAL   Science 298 (5600), 1912-1934 (2002)
   PUBMED   12471243
  REMARK    GeneRIF: Identified as a pseudokinase and named RSKL1
            Review article
REFERENCE   5  (residues 1 to 1054)
  AUTHORS   Hayashi S, Okada T, Igarashi N, Fujita T, Jahangeer S and Nakamura
            S.
  TITLE     Identification and characterization of RPK118, a novel sphingosine
            kinase-1-binding protein
  JOURNAL   J Biol Chem 277 (36), 33319-33324 (2002)
   PUBMED   12077123
  REMARK    GeneRIF: cloning and characterization of RPK118 as a sphingosine
            kinase-1-binding protein
REFERENCE   6  (residues 1 to 1054)
  AUTHORS   Zhang H, Yu L, Mao N, Fu Q, Tu Q, Gao J and Zhao S.
  TITLE     Cloning, characterization, and chromosome mapping of RPS6KC1, a
            novel putative member of the ribosome protein S6 kinase family, to
            chromosome 12q12-q13.1
  JOURNAL   Genomics 61 (3), 314-318 (1999)
   PUBMED   10552933
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC323473.1, AK122921.1,
            AL645860.5 and AL583826.16.
            
            Summary: Sphingosine kinase catalyzes the formation of sphingosine
            1 phosphate, a lipid cellular messenger. The protein encoded by
            this gene can bind to sphingosine kinase and to
            phosphatidylinositol 3-phosphate, suggesting a role in sphingosine
            1 phophate signaling. The encoded protein can also bind to
            peroxiredoxin-3 and may help transport it to mitochondria.
            [provided by RefSeq, Mar 2017].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            5' coding region, compared to variant 1. The encoded isoform (b) is
            shorter, compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK122921.1, SRR1803614.13804.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1054
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.3"
     Protein         1..1054
                     /product="ribosomal protein S6 kinase delta-1 isoform b"
                     /EC_number="2.7.11.1"
                     /note="ribosomal protein S6 kinase delta-1; SPHK1-binding
                     protein; 52 kDa ribosomal protein S6 kinase; ribosomal S6
                     kinase-like protein with two PSK domains 118 kDa protein;
                     ribosomal protein S6 kinase, 52kDa, polypeptide 1"
                     /calculated_mol_wt=117142
     Region          11..116
                     /region_name="PX_domain"
                     /note="The Phox Homology domain, a phosphoinositide
                     binding module; cl02563"
                     /db_xref="CDD:445832"
     Site            order(41..43,72..73,86)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:132768"
     Region          195..216
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S38.2)"
     Region          226..300
                     /region_name="MIT_SNX15"
                     /note="MIT: domain contained within Microtubule
                     Interacting and Trafficking molecules. This MIT domain
                     sub-family is found in sorting nexin 15 and related
                     proteins. The molecular function of the MIT domain is
                     unclear; cd02677"
                     /db_xref="CDD:239140"
     Site            270
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Region          323..>409
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            411
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Site            415
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Region          429..497
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S38.2)"
     Site            437
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BLK9; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Site            443
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Site            482
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BLK9; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Site            516
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Region          541..584
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S38.2)"
     Site            571
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Site            593
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Site            596
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BLK9; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Site            628
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BLK9; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Site            649
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Site            652
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Site            655
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Site            782
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BLK9; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Site            860
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96S38.2)"
     Region          <867..1044
                     /region_name="STKc_RPK118_like"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     RPK118, and similar proteins; cd05576"
                     /db_xref="CDD:270728"
     Site            order(917,919,921,938,949..954,981,987,990)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270728"
     Site            934..954
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270728"
     CDS             1..1054
                     /gene="RPS6KC1"
                     /gene_synonym="humS6PKh1; RPK118; RSKL1; S6K-delta-1;
                     S6PKh1"
                     /coded_by="NM_001136138.4:165..3329"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS44317.1"
                     /db_xref="GeneID:26750"
                     /db_xref="HGNC:HGNC:10439"
                     /db_xref="MIM:617517"
ORIGIN      
        1 mtsyrersad larfytvtep qrhprgytvy kvtariivwk rysdfkklhk elwqihknlf
       61 rhselfppfa kgivfgrfde tvieerrqca edllqfsani palynskqle dffkggiind
      121 sseligpaea hsdslidtfp ecstegfssd sdlvsltvdv dslaelddgm asnqnspirt
      181 fglnlssdss algavasdse qskteeeres rslfpgslkp klgkrdylek ageliklalk
      241 keeeddyeaa sdfyrkgvdl llegvqgess ptrreavkrr taeylmraes isslygkpql
      301 ddvsqppgsl ssrplwnlrs paeelkafrv lgvidkvllv mdtrteqtfi lkglrkssey
      361 srnrktiipr cvpnmvclhk yiiseesvfl vlqhaeggkl wsyiskflnr speesfdike
      421 vkkptlakvh lqqptsspqd sssfesrgsd ggsmlkalpl kssltpssqd dsnqeddgqd
      481 sspkwpdsgs sseeecttsy ltlcneygqe kiepgslnee pfmktegngv dtkaiksfpa
      541 hlaadsdsps tqlrahelkf fpnddpeavs sprtsdslsr sknspmeffr idskdsasel
      601 lgldfgekly slkseplkpf ftlpdgdsas rsfntseskv efkaqdtisr gsddsvpvis
      661 fkdaafddvs gtdegrpdll vnlpgelest reaaamgptk ftqtnigiie nklleapdvl
      721 clrlsteqcq aheekgieel sdpsgpksys itekhyaqed prmlfvaavd hsssgdmsll
      781 pssdpkfqgl gvvesavtan nteeslfric splsganeyi astdtlktee vllftdqtdd
      841 lakeeptslf qrdsetkges glvlegdkei hqifedldkk lalasrfyip egciqrwaae
      901 mvvaldalhr egivcrdlnp nnillndrgh iqltyfsrws evedscdsda iermycapev
      961 gaiteeteac dwwslgavlf elltgktlve chpagintht tlnmpecvse earsliqqll
     1021 qfnplerlga gvagvediks hpfftpvdwa elmr
//
LOCUS       NP_001005752             270 aa            linear   PRI 15-MAR-2023
DEFINITION  gap junction beta-3 protein [Homo sapiens].
ACCESSION   NP_001005752
VERSION     NP_001005752.1
DBSOURCE    REFSEQ: accession NM_001005752.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 270)
  AUTHORS   Liu XW, Wang JC, Wang SY, Li SJ, Zhu YM, Ding WJ, Xu CY, Duan L, Xu
            BC and Guo YF.
  TITLE     The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of
            patients with severe to profound sensorineural hearing loss in
            northwest China
  JOURNAL   Int J Pediatr Otorhinolaryngol 136, 110143 (2020)
   PUBMED   32645618
  REMARK    GeneRIF: The mutation frequencies of GJB2, GJB3, SLC26A4 and
            MT-RNR1 of patients with severe to profound sensorineural hearing
            loss in northwest China.
REFERENCE   2  (residues 1 to 270)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 270)
  AUTHORS   Okuda K, Nishida E, Tori K, Matubara A, Sagawa Y, Takeichi T,
            Akiyama M and Morita A.
  TITLE     Case of erythrokeratodermia variabilis successfully treated with
            narrowband ultraviolet B
  JOURNAL   J Dermatol 47 (1), e30-e31 (2020)
   PUBMED   31599015
  REMARK    GeneRIF: Case of erythrokeratodermia variabilis successfully
            treated with narrowband ultraviolet B.
REFERENCE   4  (residues 1 to 270)
  AUTHORS   Xiang YB, Tang SH, Li HZ, Xu CY, Chen C, Xu YZ, Ding LR and Xu XQ.
  TITLE     Mutation analysis of common deafness-causing genes among 506
            patients with nonsyndromic hearing loss from Wenzhou city, China
  JOURNAL   Int J Pediatr Otorhinolaryngol 122, 185-190 (2019)
   PUBMED   31035178
  REMARK    GeneRIF: Four patients were identified to carry the GJB3 mutation
            in a heterozygous state, including three with c.538C > T and one
            with c.547G > A
REFERENCE   5  (residues 1 to 270)
  AUTHORS   Li C, Lu D, Chen X, Huang B, Chen K, Liu X, Hu A, Zhang Y, Xue X,
            Xing Y, Yan Z and Dong X.
  TITLE     [Analysis of mutations of 4 common genes among 216 patients with
            non-syndromic hearing impairment]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 35 (5), 630-633 (2018)
   PUBMED   30298483
  REMARK    GeneRIF: GJB3 gene mutation was not involved with hearing loss in
            Shanghai area.
REFERENCE   6  (residues 1 to 270)
  AUTHORS   Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr,
            DiGiovanna JJ, Compton JG and Bale SJ.
  TITLE     Mutations in the human connexin gene GJB3 cause erythrokeratodermia
            variabilis
  JOURNAL   Nat Genet 20 (4), 366-369 (1998)
   PUBMED   9843209
REFERENCE   7  (residues 1 to 270)
  AUTHORS   Wenzel K, Manthey D, Willecke K, Grzeschik KH and Traub O.
  TITLE     Human gap junction protein connexin31: molecular cloning and
            expression analysis
  JOURNAL   Biochem Biophys Res Commun 248 (3), 910-915 (1998)
   PUBMED   9704026
REFERENCE   8  (residues 1 to 270)
  AUTHORS   Van Camp G, Coucke PJ, Kunst H, Schatteman I, Van Velzen D, Marres
            H, van Ewijk M, Declau F, Van Hauwe P, Meyers J, Kenyon J, Smith
            SD, Smith RJ, Djelantik B, Cremers CW, Van de Heyning PH and
            Willems PJ.
  TITLE     Linkage analysis of progressive hearing loss in five extended
            families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p
  JOURNAL   Genomics 41 (1), 70-74 (1997)
   PUBMED   9126484
REFERENCE   9  (residues 1 to 270)
  AUTHORS   Coucke P, Van Camp G, Djoyodiharjo B, Smith SD, Frants RR, Padberg
            GW, Darby JK, Huizing EH, Cremers CW, Kimberling WJ et al.
  TITLE     Linkage of autosomal dominant hearing loss to the short arm of
            chromosome 1 in two families
  JOURNAL   N Engl J Med 331 (7), 425-431 (1994)
   PUBMED   8035838
REFERENCE   10 (residues 1 to 270)
  AUTHORS   Shearer,A.E., Hildebrand,M.S. and Smith,R.J.H.
  TITLE     Hereditary Hearing Loss and Deafness Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121988.10, BM763034.1 and
            BC012918.1.
            
            Summary: This gene is a member of the connexin gene family. The
            encoded protein is a component of gap junctions, which are composed
            of arrays of intercellular channels that provide a route for the
            diffusion of low molecular weight materials from cell to cell.
            Mutations in this gene can cause non-syndromic deafness or
            erythrokeratodermia variabilis, a skin disorder. Alternative
            splicing results in multiple transcript variants encoding the same
            protein. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC012918.1, DRR138512.395506.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..270
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     Protein         1..270
                     /product="gap junction beta-3 protein"
                     /note="connexin 31; gap junction protein, beta 3, 31kDa"
                     /calculated_mol_wt=30687
     Region          2..211
                     /region_name="Connexin"
                     /note="pfam00029"
                     /db_xref="CDD:425429"
     Site            21..40
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75712.1)"
     Site            76..98
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75712.1)"
     Site            127..149
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75712.1)"
     Site            188..210
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75712.1)"
     Region          250..270
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75712.1)"
     CDS             1..270
                     /gene="GJB3"
                     /gene_synonym="CX31; DFNA2; DFNA2B; EKV; EKVP1"
                     /coded_by="NM_001005752.2:201..1013"
                     /db_xref="CCDS:CCDS384.1"
                     /db_xref="GeneID:2707"
                     /db_xref="HGNC:HGNC:4285"
                     /db_xref="MIM:603324"
ORIGIN      
        1 mdwktlqall sgvnkystaf griwlsvvfv frvlvyvvaa ervwgdeqkd fdcntkqpgc
       61 tnvcydnyfp isnirlwalq lifvtcpsll vilhvayree rerrhrqkhg dqcaklydna
      121 gkkhgglwwt ylfslifkli ieflflyllh tlwhgfnmpr lvqcanvapc pnivdcyiar
      181 ptekkiftyf mvgasavciv lticelcyli chrvlrglhk dkprggcsps ssasrastcr
      241 chhklveage vdpdpgnnkl qasapnltpi
//
LOCUS       NP_001307627             321 aa            linear   PRI 16-MAR-2023
DEFINITION  annexin A4 isoform a [Homo sapiens].
ACCESSION   NP_001307627 XP_011531107
VERSION     NP_001307627.1
DBSOURCE    REFSEQ: accession NM_001320698.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 321)
  AUTHORS   Vicic N, Guo X, Chan D, Flanagan JG, Sigal IA and Sivak JM.
  TITLE     Evidence of an Annexin A4 mediated plasma membrane repair response
            to biomechanical strain associated with glaucoma pathogenesis
  JOURNAL   J Cell Physiol 237 (9), 3687-3702 (2022)
   PUBMED   35862065
  REMARK    GeneRIF: Evidence of an Annexin A4 mediated plasma membrane repair
            response to biomechanical strain associated with glaucoma
            pathogenesis.
REFERENCE   2  (residues 1 to 321)
  AUTHORS   Peng Y, Zhang Z, Zhang A, Liu C, Sun Y, Peng Z and Liu Y.
  TITLE     Membrane-cytoplasm translocation of annexin A4 is involved in the
            metastasis of colorectal carcinoma
  JOURNAL   Aging (Albany NY) 13 (7), 10312-10325 (2021)
   PUBMED   33761465
  REMARK    GeneRIF: Membrane-cytoplasm translocation of annexin A4 is involved
            in the metastasis of colorectal carcinoma.
REFERENCE   3  (residues 1 to 321)
  AUTHORS   Liu J, Wang H, Zheng M, Deng L, Zhang X and Lin B.
  TITLE     p53 and ANXA4/NF-kappaB p50 complexes regulate cell proliferation,
            apoptosis and tumor progression in ovarian clear cell carcinoma
  JOURNAL   Int J Mol Med 46 (6), 2102-2114 (2020)
   PUBMED   33125094
  REMARK    GeneRIF: p53 and ANXA4/NFkappaB p50 complexes regulate cell
            proliferation, apoptosis and tumor progression in ovarian clear
            cell carcinoma.
REFERENCE   4  (residues 1 to 321)
  AUTHORS   Saad ZM, Fouad Y, Ali LH and Hassanin TM.
  TITLE     Clinical Significance of Annexin A4 as a Biomarker in the Early
            Diagnosis of Hepatocellular Carcinoma
  JOURNAL   Asian Pac J Cancer Prev 21 (9), 2661-2665 (2020)
   PUBMED   32986366
  REMARK    GeneRIF: Clinical Significance of Annexin A4 as a Biomarker in the
            Early Diagnosis of Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 321)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (residues 1 to 321)
  AUTHORS   Tait JF, Smith C, Frankenberry DA, Miao CH, Adler DA and Disteche
            CM.
  TITLE     Chromosomal mapping of the human annexin IV (ANX4) gene
  JOURNAL   Genomics 12 (2), 313-318 (1992)
   PUBMED   1346776
REFERENCE   7  (residues 1 to 321)
  AUTHORS   Freemont PS, Driessen HP, Verbi W and Crumpton MJ.
  TITLE     Crystallization and preliminary X-ray crystallographic studies of
            human placental annexin IV
  JOURNAL   J Mol Biol 216 (2), 219-221 (1990)
   PUBMED   2254922
REFERENCE   8  (residues 1 to 321)
  AUTHORS   Romisch J, Grote M, Weithmann KU, Heimburger N and Amann E.
  TITLE     Annexin proteins PP4 and PP4-X. Comparative characterization of
            biological activities of placental and recombinant proteins
  JOURNAL   Biochem J 272 (1), 223-229 (1990)
   PUBMED   2148260
REFERENCE   9  (residues 1 to 321)
  AUTHORS   Romisch J and Heimburger N.
  TITLE     Purification and characterization of six annexins from human
            placenta
  JOURNAL   Biol Chem Hoppe Seyler 371 (5), 383-388 (1990)
   PUBMED   2143074
REFERENCE   10 (residues 1 to 321)
  AUTHORS   Blackwood RA and Ernst JD.
  TITLE     Characterization of Ca2(+)-dependent phospholipid binding, vesicle
            aggregation and membrane fusion by annexins
  JOURNAL   Biochem J 266 (1), 195-200 (1990)
   PUBMED   2138016
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092431.7, DN994496.1,
            BC000182.1, D78152.1, AK058017.1, DB562261.1 and AC019206.4.
            On Mar 3, 2016 this sequence version replaced XP_011531107.1.
            
            Summary: Annexin IV (ANX4) belongs to the annexin family of
            calcium-dependent phospholipid binding proteins. Although their
            functions are still not clearly defined, several members of the
            annexin family have been implicated in membrane-related events
            along exocytotic and endocytotic pathways. ANX4 has 45 to 59%
            identity with other members of its family and shares a similar size
            and exon-intron organization. Isolated from human placenta, ANX4
            encodes a protein that has possible interactions with ATP, and has
            in vitro anticoagulant activity and also inhibits phospholipase A2
            activity. ANX4 is almost exclusively expressed in epithelial cells.
            Several transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). Variants 1 and 2
            both encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.59609.1,
                                           SRR1660803.16572.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..321
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     Protein         1..321
                     /product="annexin A4 isoform a"
                     /note="annexin IV (placental anticoagulant protein II);
                     proliferation-inducing gene 28; proliferation-inducing
                     protein 28; annexin-4; endonexin I; lipocortin IV;
                     chromobindin-4; 35-beta calcimedin; carbohydrate-binding
                     protein p33/p41; epididymis secretory protein Li 274"
                     /calculated_mol_wt=35954
     Region          21..85
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     Region          92..157
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     Region          175..241
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     Region          251..316
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     CDS             1..321
                     /gene="ANXA4"
                     /gene_synonym="ANX4; HEL-S-274; P32.5; PAP-II; PIG28;
                     PP4-X; ZAP36"
                     /coded_by="NM_001320698.2:1528..2493"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1894.1"
                     /db_xref="GeneID:307"
                     /db_xref="HGNC:HGNC:542"
                     /db_xref="MIM:106491"
ORIGIN      
        1 mamatkggtv kaasgfname daqtlrkamk glgtdedaii svlayrntaq rqeirtayks
       61 tigrdliddl kselsgnfeq vivgmmtptv lydvqelrra mkgagtdegc lieilasrtp
      121 eeirrisqty qqqygrsled dirsdtsfmf qrvlvslsag grdegnyldd alvrqdaqdl
      181 yeagekkwgt devkfltvlc srnrnhllhv fdeykrisqk dieqsikset sgsfedalla
      241 ivkcmrnksa yfaeklyksm kglgtddntl irvmvsraei dmldirahfk rlygkslysf
      301 ikgdtsgdyr kvllvlcggd d
//
LOCUS       NP_001164432            1341 aa            linear   PRI 19-MAR-2023
DEFINITION  immunoglobulin superfamily member 1 isoform 3 precursor [Homo
            sapiens].
ACCESSION   NP_001164432
VERSION     NP_001164432.1
DBSOURCE    REFSEQ: accession NM_001170961.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1341)
  AUTHORS   Zhang C, Chen L, Chen X, Xie R, Wang F, Chen T, Wang X, Sun H,
            Zhang D and Wu H.
  TITLE     [Clinical characteristics and genetic analysis of four patients
            with central hypothyroidism due to IGSF1 gene variants]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (3), 322-327 (2023)
   PUBMED   36854408
  REMARK    GeneRIF: [Clinical characteristics and genetic analysis of four
            patients with central hypothyroidism due to IGSF1 gene variants].
REFERENCE   2  (residues 1 to 1341)
  AUTHORS   Costas Eimil J and Sanchez-Sobrino P.
  TITLE     IGSF1 mutation as a cause of isolated central hypothyroidism
  JOURNAL   Endocrinol Diabetes Nutr (Engl Ed) 69 (10), 913-914 (2022)
   PUBMED   36464600
  REMARK    GeneRIF: IGSF1 mutation as a cause of isolated central
            hypothyroidism.
REFERENCE   3  (residues 1 to 1341)
  AUTHORS   Fourneaux R, Reynaud R, Mougel G, Castets S, Bretones P, Dauriat B,
            Edouard T, Raverot G, Barlier A, Brue T, Castinetti F and Saveanu
            A.
  TITLE     IGSF1 mutations are the most frequent genetic aetiology of
            thyrotropin deficiency
  JOURNAL   Eur J Endocrinol 187 (6), 787-795 (2022)
   PUBMED   36201163
  REMARK    GeneRIF: IGSF1 mutations are the most frequent genetic aetiology of
            thyrotropin deficiency.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1341)
  AUTHORS   Elizabeth MSM, Hokken-Koelega A, Visser JA, Joustra SD and de
            Graaff LCG.
  TITLE     Case Report: A Detailed Phenotypic Description of Patients and
            Relatives with Combined Central Hypothyroidism and Growth Hormone
            Deficiency Carrying IGSF1 Mutations
  JOURNAL   Genes (Basel) 13 (4), 623 (2022)
   PUBMED   35456429
  REMARK    GeneRIF: Case Report: A Detailed Phenotypic Description of Patients
            and Relatives with Combined Central Hypothyroidism and Growth
            Hormone Deficiency Carrying IGSF1 Mutations.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1341)
  AUTHORS   Fourneaux R, Castets S, Godefroy A, Grelet M, Abeillon-du Payrat J,
            Saveanu A, Castinetti F and Reynaud R.
  TITLE     Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant
            Identified in a French Family
  JOURNAL   Horm Res Paediatr 95 (3), 296-303 (2022)
   PUBMED   35350016
  REMARK    GeneRIF: Congenital Central Hypothyroidism Caused by a Novel IGSF1
            Variant Identified in a French Family.
REFERENCE   6  (residues 1 to 1341)
  AUTHORS   Tanaka S, Tatsumi K, Okubo K, Itoh K, Kawamoto S, Matsubara K and
            Amino N.
  TITLE     Expression profile of active genes in the human pituitary gland
  JOURNAL   J Mol Endocrinol 28 (1), 33-44 (2002)
   PUBMED   11854097
REFERENCE   7  (residues 1 to 1341)
  AUTHORS   Gui Y and Murphy LJ.
  TITLE     Insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) binds
            to fibronectin (FN): demonstration of IGF-I/IGFBP-3/fn ternary
            complexes in human plasma
  JOURNAL   J Clin Endocrinol Metab 86 (5), 2104-2110 (2001)
   PUBMED   11344214
REFERENCE   8  (residues 1 to 1341)
  AUTHORS   Chapman SC and Woodruff TK.
  TITLE     Modulation of activin signal transduction by inhibin B and
            inhibin-binding protein (INhBP)
  JOURNAL   Mol Endocrinol 15 (4), 668-679 (2001)
   PUBMED   11266516
REFERENCE   9  (residues 1 to 1341)
  AUTHORS   Frattini A, Faranda S, Redolfi E, Allavena P and Vezzoni P.
  TITLE     Identification and genomic organization of a gene coding for a new
            member of the cell adhesion molecule family mapping to Xq25
  JOURNAL   Gene 214 (1-2), 1-6 (1998)
   PUBMED   9729118
REFERENCE   10 (residues 1 to 1341)
  AUTHORS   Mazzarella R, Pengue G, Jones J, Jones C and Schlessinger D.
  TITLE     Cloning and expression of an immunoglobulin superfamily gene
            (IGSF1) in Xq25
  JOURNAL   Genomics 48 (2), 157-162 (1998)
   PUBMED   9521868
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590806.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the immunoglobulin-like
            domain-containing superfamily. Proteins in this superfamily contain
            varying numbers of immunoglobulin-like domains and are thought to
            participate in the regulation of interactions between cells.
            Multiple transcript variants encoding different isoforms have been
            found for this gene.[provided by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest protein (isoform 3).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.1769730.1,
                                           SRR14038197.2163223.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1341
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.1"
     Protein         1..1341
                     /product="immunoglobulin superfamily member 1 isoform 3
                     precursor"
                     /note="inhibin-binding protein; pituitary gland-specific
                     factor 2; immunoglobulin-like domain-containing protein 1"
                     /calculated_mol_wt=146341
     sig_peptide     1..28
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3103
     Region          37..123
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            53
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          54..58
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          67..71
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          89..93
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          103..108
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          118..121
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          131..221
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          148..152
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          160..164
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          182..186
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          196..201
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          214..217
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          227..316
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          244..248
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          256..260
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          279..283
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          293..298
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          309..312
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          325..414
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            338
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          339..343
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          351..355
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            374
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          375..379
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Site            381
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          389..394
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          407..410
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          420..504
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          437..441
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          449..453
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          467..471
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          481..486
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          499..502
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Site            519..539
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          596..684
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            612
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          613..617
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          626..630
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          648..652
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          662..667
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          677..680
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          690..777
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          704..708
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          716..720
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          738..742
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          752..757
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            752
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          770..773
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          783..873
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          800..804
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Site            803
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          812..816
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          837..841
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          851..856
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            851
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          866..869
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          879..965
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          896..900
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          908..912
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          930..934
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          944..949
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            944
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          962..965
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          975..1065
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            991
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          992..996
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1004..1008
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1026..1030
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Site            1032
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          1040..1045
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1058..1061
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1071..1161
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            1087
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          1088..1092
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1100..1104
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1122..1126
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1136..1141
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            1152
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          1154..1157
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1167..1253
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          1184..1188
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1196..1200
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1214..1218
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1228..1233
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            1228
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N6C5.3)"
     Region          1246..1249
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1313..1341
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6C5.3)"
     CDS             1..1341
                     /gene="IGSF1"
                     /gene_synonym="CHTE; IGCD1; IGDC1; INHBP; p120; PGSF2"
                     /coded_by="NM_001170961.2:161..4186"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS55491.1"
                     /db_xref="GeneID:3547"
                     /db_xref="HGNC:HGNC:5948"
                     /db_xref="MIM:300137"
ORIGIN      
        1 mtldrpgega tmlktftvll fcirmslgmt sivmdpqpel wiesnypqap wenitlwcrs
       61 psrisskfll lkdktqmtwi rpshktfqvs fligaltesn aglyrccywk etgwskpskv
      121 leleapgqlp kpifwiqaet palpgcnvni lchgwlqdlv fmlfkegyae pvdyqvptgt
      181 maifsidnlt pedegvyicr thiqmlptlw sepsnplklv vaglypkptl tahpgpimap
      241 geslnlrcqg piygmtfalm rvedleksfy hkktiknean fffqslkiqd tghylcfyyd
      301 asyrgsllsd vlkiwvtdtf pktwllarps avvqmgqnvs lrcrgpvdgv glalykkged
      361 kplqfldats iddntsffln nvtysdtgiy schylltwkt sirmpshntv elmvvdkppk
      421 pslsawpstv fklgkaitlq crvshpvlef sleweeretf qkfsvngdfi isnvdgkgtg
      481 tyscsyrvet hpniwshrse plklmgpagy ltwnyvlnea irlslimqlv alllvvlwir
      541 wkcrrlrire awllgtaqgv tmlfivtall ccaisfaglc ngvlieetei vmptpkpelw
      601 aetnfplapw knltlwcrsp sgstkefvll kdgtgwiatr paseqvraaf plgaltqsht
      661 gsyhchswee mavsepseal elvgtdilpk pvisasptir gqelqlrckg wlagmgfaly
      721 kegeqepvqq lgavgreaff tiqrmedkde gnyscrthte krpfkwseps eplelvikem
      781 ypkpffktwa spvvtpgarv tfncstphqh msfilykdgs eiassdrswa spgasaahfl
      841 iisvgigdgg nyscryydfs iwsepsdpve lvvtefypkp tllaqpgpvv fpgksvilrc
      901 qgtfqgmrfa llqegahvpl qfrsvsgnsa dfllhtvgae dsgnysciyy ettmsnrgsy
      961 lsmplmiwvt dtfpkpwlfa epssvvpmgq nvtlwcrgpv hgvgyilhke geatsmqlwg
     1021 stsndgafpi tnisgtsmgr ysccyhpdwt ssikiqpsnt lellvtgllp kpsllaqpgp
     1081 mvapgenmtl qcqgelpdst fvllkegaqe pleqqrpsgy radfwmpavr gedsgiyscv
     1141 yyldstpfaa snhsdsleiw vtdkppkpsl sawpstmfkl gkditlqcrg plpgvefvle
     1201 hdgeeapqqf sedgdfvinn vegkgignys csyrlqaypd iwsepsdple lvgaagpvaq
     1261 ectvgnivrs slivvvvval gvvlaiewkk wprlrtrgse tdgrdqtial eecnqegepg
     1321 tpanspssts qrisvelpvp i
//
LOCUS       NP_001265202             688 aa            linear   PRI 19-MAR-2023
DEFINITION  SRSF protein kinase 2 isoform b precursor [Homo sapiens].
ACCESSION   NP_001265202
VERSION     NP_001265202.1
DBSOURCE    REFSEQ: accession NM_001278273.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 688)
  AUTHORS   Fonteneau G, Redding A, Hoag-Lee H, Sim ES, Heinrich S, Gaida MM
            and Grabocka E.
  TITLE     Stress Granules Determine the Development of Obesity-Associated
            Pancreatic Cancer
  JOURNAL   Cancer Discov 12 (8), 1984-2005 (2022)
   PUBMED   35674408
  REMARK    GeneRIF: Stress Granules Determine the Development of
            Obesity-Associated Pancreatic Cancer.
REFERENCE   2  (residues 1 to 688)
  AUTHORS   Zheng X, Sun Z, Yu L, Shi D, Zhu M, Yao H and Li L.
  TITLE     Interactome Analysis of the Nucleocapsid Protein of SARS-CoV-2
            Virus
  JOURNAL   Pathogens 10 (9), 1155 (2021)
   PUBMED   34578187
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 688)
  AUTHORS   Khatun M, Sur S, Steele R, Ray R and Ray RB.
  TITLE     Inhibition of Long Noncoding RNA Linc-Pint by Hepatitis C Virus in
            Infected Hepatocytes Enhances Lipogenesis
  JOURNAL   Hepatology 74 (1), 41-54 (2021)
   PUBMED   33236406
  REMARK    GeneRIF: Inhibition of Long Noncoding RNA Linc-Pint by Hepatitis C
            Virus in Infected Hepatocytes Enhances Lipogenesis.
REFERENCE   4  (residues 1 to 688)
  AUTHORS   Liu H, Gong Z, Li K, Zhang Q, Xu Z and Xu Y.
  TITLE     SRPK1/2 and PP1alpha exert opposite functions by modulating
            SRSF1-guided MKNK2 alternative splicing in colon adenocarcinoma
  JOURNAL   J Exp Clin Cancer Res 40 (1), 75 (2021)
   PUBMED   33602301
  REMARK    GeneRIF: SRPK1/2 and PP1alpha exert opposite functions by
            modulating SRSF1-guided MKNK2 alternative splicing in colon
            adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 688)
  AUTHORS   Yaron,T.M., Heaton,B.E., Levy,T.M., Johnson,J.L., Jordan,T.X.,
            Cohen,B.M., Kerelsky,A., Lin,T.Y., Liberatore,K.M., Bulaon,D.K.,
            Kastenhuber,E.R., Mercadante,M.N., Shobana-Ganesh,K., He,L.,
            Schwartz,R.E., Chen,S., Weinstein,H., Elemento,O., Piskounova,E.,
            Nilsson-Payant,B.E., Lee,G., Trimarco,J.D., Burke,K.N.,
            Hamele,C.E., Chaparian,R.R., Harding,A.T., Tata,A., Zhu,X.,
            Tata,P.R., Smith,C.M., Possemato,A.P., Tkachev,S.L., Hornbeck,P.V.,
            Beausoleil,S.A., Anand,S.K., Aguet,F., Getz,G., Davidson,A.D.,
            Heesom,K., Kavanagh-Williamson,M., Matthews,D., tenOever,B.R.,
            Cantley,L.C., Blenis,J. and Heaton,N.S.
  TITLE     The FDA-approved drug Alectinib compromises SARS-CoV-2 nucleocapsid
            phosphorylation and inhibits viral infection in vitro
  JOURNAL   bioRxiv (2020)
   PUBMED   32817937
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 688)
  AUTHORS   Koizumi J, Okamoto Y, Onogi H, Mayeda A, Krainer AR and Hagiwara M.
  TITLE     The subcellular localization of SF2/ASF is regulated by direct
            interaction with SR protein kinases (SRPKs)
  JOURNAL   J Biol Chem 274 (16), 11125-11131 (1999)
   PUBMED   10196197
REFERENCE   7  (residues 1 to 688)
  AUTHORS   Wang HY, Lin W, Dyck JA, Yeakley JM, Songyang Z, Cantley LC and Fu
            XD.
  TITLE     SRPK2: a differentially expressed SR protein-specific kinase
            involved in mediating the interaction and localization of pre-mRNA
            splicing factors in mammalian cells
  JOURNAL   J Cell Biol 140 (4), 737-750 (1998)
   PUBMED   9472028
REFERENCE   8  (residues 1 to 688)
  AUTHORS   Kuroyanagi N, Onogi H, Wakabayashi T and Hagiwara M.
  TITLE     Novel SR-protein-specific kinase, SRPK2, disassembles nuclear
            speckles
  JOURNAL   Biochem Biophys Res Commun 242 (2), 357-364 (1998)
   PUBMED   9446799
REFERENCE   9  (residues 1 to 688)
  AUTHORS   Bedford MT, Chan DC and Leder P.
  TITLE     FBP WW domains and the Abl SH3 domain bind to a specific class of
            proline-rich ligands
  JOURNAL   EMBO J 16 (9), 2376-2383 (1997)
   PUBMED   9171351
REFERENCE   10 (residues 1 to 688)
  AUTHORS   Gui JF, Lane WS and Fu XD.
  TITLE     A serine kinase regulates intracellular localization of splicing
            factors in the cell cycle
  JOURNAL   Nature 369 (6482), 678-682 (1994)
   PUBMED   8208298
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC068547.1, AC004884.1, BC035214.1, AC005070.1 and BU632662.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (b)
            has a shorter and distinct N-terminus compared to isoform a.
            Variants 2, 3, and 4 all encode the same isoform (b).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC068547.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..688
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.3"
     Protein         1..688
                     /product="SRSF protein kinase 2 isoform b precursor"
                     /EC_number="2.7.11.1"
                     /note="SFRS protein kinase 2; serine/arginine-rich
                     splicing factor kinase 2; SR protein kinase 2;
                     serine/threonine-protein kinase SRPK2; serine kinase
                     SRPK2; SR-protein-specific kinase 2; serine/arginine-rich
                     protein-specific kinase 2"
                     /calculated_mol_wt=77396
     mat_peptide     1..139
                     /product="SRSF protein kinase 2 N-terminal.
                     /id=PRO_0000414751"
                     /note="propagated from UniProtKB/Swiss-Prot (P78362.3)"
                     /calculated_mol_wt=15552
     Region          1..65
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P78362.3)"
     Site            52
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Region          68..>256
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:419665"
     Site            order(87..90,93,95,108,110,146,166..169,214,218..219,221)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     Site            139..140
                     /site_type="cleavage"
                     /note="Cleavage, by caspase-3.
                     /evidence=ECO:0000269|PubMed:21056976; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     mat_peptide     140..688
                     /product="SRSF protein kinase 2 C-terminal.
                     /id=PRO_0000414752"
                     /note="propagated from UniProtKB/Swiss-Prot (P78362.3)"
                     /calculated_mol_wt=61993
     Region          239..277
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P78362.3)"
     Region          329..444
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P78362.3)"
     Region          <341..383
                     /region_name="2A1904"
                     /note="K+-dependent Na+/Ca+ exchanger; TIGR00927"
                     /db_xref="CDD:273344"
     Site            380
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P78362.3)"
     Site            403..404
                     /site_type="cleavage"
                     /note="Cleavage, by caspase-3.
                     /evidence=ECO:0000269|PubMed:21056976; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Region          469..501
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P78362.3)"
     Site            475
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O54781; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Site            478
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:O54781; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Site            484
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O54781; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Site            486
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O54781; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Site            490
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O54781; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Site            492
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PKB/AKT1.
                     /evidence=ECO:0000269|PubMed:19592491; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Site            494
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Site            497
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P78362.3)"
     Region          <504..686
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:419665"
     Site            588
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P78362.3)"
     CDS             1..688
                     /gene="SRPK2"
                     /gene_synonym="SFRSK2"
                     /coded_by="NM_001278273.2:182..2248"
                     /note="isoform b precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS5735.1"
                     /db_xref="GeneID:6733"
                     /db_xref="HGNC:HGNC:11306"
                     /db_xref="MIM:602980"
ORIGIN      
        1 msvnseksss serpepqqka plvppppppp pppppplpdp tppepeeeil gsddeeqedp
       61 adyckggyhp vkigdlfngr yhvirklgwg hfstvwlcwd mqgkrfvamk vvksaqhyte
      121 taldeikllk cvresdpsdp nkdmvvqlid dfkisgmngi hvcmvfevlg hhllkwiiks
      181 nyqglpvrcv ksiirqvlqg ldylhskcki ihtdikpeni lmcvddayvr rmaaeatewq
      241 kagapppsgs avstapqqkp igkisknkkk klkkkqkrqa ellekrlqei eelereaerk
      301 iieenitsaa psndqdgeyc pevklkttgl eeaaeaetak dngeaedqee kedaekenie
      361 kdeddvdqel anidptwies pktnghieng pfsleqqldd edddeedcpn peeynldepn
      421 aesdytysss yeqfngelpn grhkipesqf pefstslfsg slepvacgsv lsegsplteq
      481 eesspshdrs rtvsasstgd lpkaktraad llvnpldprn adkirvkiad lgnacwvhkh
      541 ftediqtrqy rsievligag ystpadiwst acmafelatg dylfephsge dysrdedhia
      601 hiiellgsip rhfalsgkys reffnrrgel rhitklkpws lfdvlvekyg wphedaaqft
      661 dflipmlemv pekrasagec lrhpwlns
//
LOCUS       XP_047278515            1044 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit
            delta isoform isoform X1 [Homo sapiens].
ACCESSION   XP_047278515
VERSION     XP_047278515.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422559.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1044
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1044
                     /product="phosphatidylinositol 4,5-bisphosphate 3-kinase
                     catalytic subunit delta isoform isoform X1"
                     /calculated_mol_wt=119349
     Region          32..107
                     /region_name="PI3K_p85B"
                     /note="PI3-kinase family, p85-binding domain; pfam02192"
                     /db_xref="CDD:426649"
     Region          175..281
                     /region_name="PI3K_rbd"
                     /note="PI3-kinase family, ras-binding domain; pfam00794"
                     /db_xref="CDD:395642"
     Region          314..481
                     /region_name="C2_PI3K_class_I_beta_delta"
                     /note="C2 domain present in class I beta and delta
                     phosphatidylinositol 3-kinases (PI3Ks); cd08693"
                     /db_xref="CDD:176075"
     Region          503..684
                     /region_name="PI3Ka"
                     /note="Phosphoinositide 3-kinase family, accessory domain
                     (PIK domain); smart00145"
                     /db_xref="CDD:214537"
     Region          676..1042
                     /region_name="PI3Kc_IA_delta"
                     /note="Catalytic domain of Class IA Phosphoinositide
                     3-kinase delta; cd05174"
                     /db_xref="CDD:270718"
     Site            order(752,754..756,758,760,777,779,782,813,825..828,833,
                     836,898,900,910..911)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270718"
     Site            order(820..821,922..923,925,927,993,996)
                     /site_type="other"
                     /note="putative regulatory subunit interface [polypeptide
                     binding]"
                     /db_xref="CDD:270718"
     Site            867
                     /site_type="other"
                     /note="Ras binding site [polypeptide binding]"
                     /db_xref="CDD:270718"
     Site            890..898
                     /site_type="active"
                     /note="catalytic loop [active]"
                     /db_xref="CDD:270718"
     Site            911..935
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270718"
     CDS             1..1044
                     /gene="PIK3CD"
                     /gene_synonym="APDS; IMD14; IMD14A; IMD14B; p110D;
                     P110DELTA; PI3K; ROCHIS"
                     /coded_by="XM_047422559.1:299..3433"
                     /db_xref="GeneID:5293"
                     /db_xref="HGNC:HGNC:8977"
                     /db_xref="MIM:602839"
ORIGIN      
        1 mppgvdcpme fwtkeenqsv vvdfllptgv ylnfpvsrna nlstikqllw hraqyeplfh
       61 mlsgpeayvf tcinqtaeqq eledeqrrlc dvqpflpvlr lvaregdrvk klinsqisll
      121 igkglhefds lcdpevndfr akmcqfceea aarrqqlgwe awlqysfplq lepsaqtwgp
      181 gtlrlpnral lvnvkfegse esftfqvstk dvplalmaca lrkkatvfrq plveqpedyt
      241 lqvngrheyl ygsyplcqfq yicsclhsgl tphltmvhss silamrdeqs npapqvqkpr
      301 akpppipakk pssvslwsle qpfrieliqg skvnadermk lvvqaglfhg nemlcktvss
      361 sevsvcsepv wkqrlefdin icdlprmarl cfalyaviek akkarstkkk skkadcpiaw
      421 anlmlfdykd qlktgercly mwpsvpdekg ellnptgtvr snpntdsaaa lliclpevap
      481 hpvyypalek ilelgrhsec vhvteeeqlq lreilerrgs gelyehekdl vwklrhevqe
      541 hfpealarll lvtkwnkhed vaqmlyllcs wpelpvlsal elldfsfpdc hvgsfaiksl
      601 rkltddelfq yllqlvqvlk yesyldcelt kflldralan rkighflfwh lrsemhvpsv
      661 alrfglilea ycrgsthhmk vlmkqgeals klkalndfvk lssqktpkpq tkelmhlcmr
      721 qeaylealsh lqspldpstl laevcveqct fmdskmkplw imysneeags ggsvgiifkn
      781 gddlrqdmlt lqmiqlmdvl wkqegldlrm tpygclptgd rtglievvlr sdtianiqln
      841 ksnmaataaf nkdallnwlk sknpgealdr aieeftlsca gycvatyvlg igdrhsdnim
      901 iresgqlfhi dfghflgnfk tkfginrerv pfiltydfvh viqqgktnns ekferfrgyc
      961 eraytilrrh gllflhlfal mraaglpels cskdiqylkd slalgkteee alkhfrvkfn
     1021 ealreswktk vnwlahnvsk dnrq
//
LOCUS       XP_047283562             537 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 82 isoform X2 [Homo sapiens].
ACCESSION   XP_047283562
VERSION     XP_047283562.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427606.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..537
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..537
                     /product="coiled-coil domain-containing protein 82 isoform
                     X2"
                     /calculated_mol_wt=62762
     Region          102..236
                     /region_name="DUF4196"
                     /note="Domain of unknown function (DUF4196); pfam13846"
                     /db_xref="CDD:433523"
     Region          297..449
                     /region_name="DUF4211"
                     /note="Domain of unknown function (DUF4211); pfam13926"
                     /db_xref="CDD:433583"
     CDS             1..537
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /coded_by="XM_047427606.1:687..2300"
                     /db_xref="GeneID:79780"
                     /db_xref="HGNC:HGNC:26282"
                     /db_xref="MIM:619870"
ORIGIN      
        1 mihvrrhetr rnskshvpeq ksrvdwrrtk rssisqllds deeldseefd sdeeldsdes
       61 fendeeldsn kgpdcnktpg serelnlski qsegndskcl insgngstye eetnkikhrn
      121 idlqdqekhl sqedndlnkq tgqiieddqe khlsqedndl nkqtgqiied dleeedikrg
      181 krkrlssvmc dsdesddsdi lvrkvgvkrp rrvvedegss vemeqktpek tlaaqkrekl
      241 qklkelskqr srqrrssgrd fedsekescp ssdevdeeee ednyesdedg ddyiiddfvv
      301 qdeegdeenk nqqgekltts qlklvkqnsl ysfsdhythf ervvkallin aldesflgtl
      361 ydgtrqksya kdmltslhyl dnrfvqprle slvsrsrwke qykervenys nvsihlknpe
      421 ncscqacglh ryckysvhls gelyntrtmq idnfmshdkq vftvgricas rtriyhklkh
      481 fkfklyqecc tiamteeved eqvketveri frrskengwi kensscdlrv kkhlvpv
//
LOCUS       XP_047295882             485 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclic nucleotide-binding domain-containing protein 2 isoform X10
            [Homo sapiens].
ACCESSION   XP_047295882
VERSION     XP_047295882.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439926.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..485
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..485
                     /product="cyclic nucleotide-binding domain-containing
                     protein 2 isoform X10"
                     /calculated_mol_wt=56359
     Region          181..277
                     /region_name="CAP_ED"
                     /note="effector domain of the CAP family of transcription
                     factors; members include CAP (or cAMP receptor protein
                     (CRP)), which binds cAMP, FNR (fumarate and nitrate
                     reduction), which uses an iron-sulfur cluster to sense
                     oxygen) and CooA, a heme containing CO...; cd00038"
                     /db_xref="CDD:237999"
     Site            order(247..248,257..259)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:237999"
     CDS             1..485
                     /gene="CNBD2"
                     /gene_synonym="C20orf152; CNMPD1"
                     /coded_by="XM_047439926.1:195..1652"
                     /db_xref="GeneID:140894"
                     /db_xref="HGNC:HGNC:16145"
ORIGIN      
        1 mrrllpsrcg rascawpgll pnggaserqf eeeseeepec leidfksrtl svrrfglqie
       61 kprcqkmkdw skirklglyq lamdiiimir vckmfrqglr gfreyqiiet ahwkhpifsf
      121 wdkkmqsrvt fdtmdfiaee ghfppkaiqi mqkkpswrte deiqavcnil qvldsyrnya
      181 eplqlllakv mrferfgrrr viikkgqkgn sfyfiylgtv aitkdedgss afldphpkll
      241 hkgscfgemd vlhasvrrst ivcmeetefl vvdredffan kldqevqkda qyrfeffrkm
      301 elfaswsdek lwqlvamaki erfsygqlis kdfgespfim fiskgscevl rlldlgasps
      361 yrrwiwqhle lidgrplkth lseyspmerf kefqiksypl qdfsslklph lkkawglqgt
      421 sfsrkirtsg dtlpkmlgpk iqsrpaqsik caminikpge lpkeaavgay vkvhtveqge
      481 ilvsp
//
LOCUS       XP_016867279             725 aa            linear   PRI 20-MAR-2023
DEFINITION  diacylglycerol kinase beta isoform X2 [Homo sapiens].
ACCESSION   XP_016867279
VERSION     XP_016867279.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017011790.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..725
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..725
                     /product="diacylglycerol kinase beta isoform X2"
                     /calculated_mol_wt=81856
     Region          6..149
                     /region_name="DAG_kinase_N"
                     /note="Diacylglycerol kinase N-terminus; pfam14513"
                     /db_xref="CDD:434007"
     Region          153..222
                     /region_name="EFh"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     cd00051"
                     /db_xref="CDD:238008"
     Site            order(162,164,166,173,207,209,211,218)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238008"
     Region          238..303
                     /region_name="C1_DGKbeta_rpt1"
                     /note="first protein kinase C conserved region 1 (C1
                     domain) found in diacylglycerol kinase beta (DAG kinase
                     beta) and similar proteins; cd20845"
                     /db_xref="CDD:410395"
     Site            order(250..256,264..268,271)
                     /site_type="other"
                     /note="putative DAG/PE binding site [chemical binding]"
                     /db_xref="CDD:410395"
     Region          308..366
                     /region_name="C1_DGKbeta_rpt2"
                     /note="second protein kinase C conserved region 1 (C1
                     domain) found in diacylglycerol kinase beta (DAG kinase
                     beta) and similar proteins; cd20891"
                     /db_xref="CDD:410441"
     Site            order(315..319,327..331,335)
                     /site_type="other"
                     /note="putative DAG/PE binding site [chemical binding]"
                     /db_xref="CDD:410441"
     Region          440..561
                     /region_name="DAGKc"
                     /note="Diacylglycerol kinase catalytic domain (presumed);
                     smart00046"
                     /db_xref="CDD:214487"
     Region          582..>679
                     /region_name="DAGK_acc"
                     /note="Diacylglycerol kinase accessory domain; cl02440"
                     /db_xref="CDD:445784"
     CDS             1..725
                     /gene="DGKB"
                     /gene_synonym="DAGK2; DGK; DGK-BETA"
                     /coded_by="XM_017011790.2:348..2525"
                     /db_xref="GeneID:1607"
                     /db_xref="HGNC:HGNC:2850"
                     /db_xref="MIM:604070"
ORIGIN      
        1 mtnqekwahl spsefsqlqk yaeystkklk dvleefhgng vlakynpegk qdilnqtidf
       61 egfklfmktf leaelpddft ahlfmsfsnk fphsspmvks kpallsgglr mnkgaitppr
      121 ttspantcsp evihlkdivc ylsllergrp edklefmfrl ydtdgngfld sseleniisq
      181 mmhvaeylew dvtelnpilh emmeeidydh dgtvsleewi qggmttipll vllglennvk
      241 ddgqhvwrlk hfnkpaycnl clnmligvgk qglccsfcky tvhercvara ppsciktyvk
      301 skrntdvmhh ywvegncptk cdkchktvkc yqgltglhcv wcqitlhnkc ashlkpecdc
      361 gplkdhilpp tticpvvlqt lptsgvsvpe erqstvkkek sgsqqpnkvi dknkmqrans
      421 vtvdgqglqv tpvpgthpll vfvnpksggk qgeriyrkfq yllnprqvys lsgngpmpgl
      481 nffrdvpdfr vlacggdgtv gwvldcieka nvgkhppvai lplgtgndla rclrwgggye
      541 genlmkilkd iensteimld rwkfevipnd kdekgdpvpy siinnyfsig vdasiahrfh
      601 imrekhpekf nsrmknkfwy fefgtsetfs atckklhesv eiecdgvqid linislegia
      661 ilnipsmhgg snlwgeskkr rshrriekkg sdkrttvtda kelkfasqgt hiwkklqtnq
      721 tqils
//
LOCUS       XP_016885265             192 aa            linear   PRI 20-MAR-2023
DEFINITION  doublesex- and mab-3-related transcription factor C1 isoform X1
            [Homo sapiens].
ACCESSION   XP_016885265
VERSION     XP_016885265.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029776.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..192
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..192
                     /product="doublesex- and mab-3-related transcription
                     factor C1 isoform X1"
                     /calculated_mol_wt=20008
     Region          73..191
                     /region_name="DMRT-like"
                     /note="Doublesex-and mab-3-related transcription factor C1
                     and C2; pfam15791"
                     /db_xref="CDD:434939"
     CDS             1..192
                     /gene="DMRTC1B"
                     /coded_by="XM_017029776.2:204..782"
                     /db_xref="GeneID:728656"
                     /db_xref="HGNC:HGNC:31686"
ORIGIN      
        1 maappkapir vrnltiraga ltgkennmlq pethiftape egssqgalll gqapeplslp
       61 ctpvtleqql vspsgdphra palpsicstl ilqpcatldp lllqpqvpkv sdqalvsahs
      121 ewqrkleaae alltlrnsaq appdsislhq pcnppapagd kgfqppspsl rprpassisl
      181 pighlgcisl ls
//
LOCUS       XP_054225545             358 aa            linear   PRI 20-MAR-2023
DEFINITION  CREB/ATF bZIP transcription factor isoform X1 [Homo sapiens].
ACCESSION   XP_054225545
VERSION     XP_054225545.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369570.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..358
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..358
                     /product="CREB/ATF bZIP transcription factor isoform X1"
                     /calculated_mol_wt=37583
     CDS             1..358
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /coded_by="XM_054369570.1:255..1331"
                     /db_xref="GeneID:58487"
                     /db_xref="HGNC:HGNC:24905"
                     /db_xref="MIM:606444"
ORIGIN      
        1 mrhsltklla asgsnsptrs espepaatcs lpsdltraaa geeetaaags pgrkqqfgde
       61 geleagrgsr ggvavrapsp eemeeeaias lpgeetedmd flsgleladl ldprqpdwhl
      121 dpglsspgpl sssgggsdsg glwrgdddde aaaaemqrfs dllqrllngi ggcssssdsg
      181 saekrrrksp gggggggsgn dnnqaatksp rkaaaaaarl nrlkkkeyvm glesrvrgla
      241 aenqelraen relgkrvqal qeesrylrav lanetglarl lsrlsgvglr lttslfrdsp
      301 agdhdyalpv gkqkqdllee ddsaggvclh vdkdkvsvef csacarkass slkifffr
//
LOCUS       XP_054231382             603 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium/potassium/calcium exchanger 4 isoform X3 [Homo sapiens].
ACCESSION   XP_054231382
VERSION     XP_054231382.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375407.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 10% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..603
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..603
                     /product="sodium/potassium/calcium exchanger 4 isoform X3"
                     /calculated_mol_wt=66870
     CDS             1..603
                     /gene="SLC24A4"
                     /gene_synonym="AI2A5; NCKX4; SHEP6; SLC24A2"
                     /coded_by="XM_054375407.1:667..2478"
                     /db_xref="GeneID:123041"
                     /db_xref="HGNC:HGNC:10978"
                     /db_xref="MIM:609840"
ORIGIN      
        1 malrgtlrpl kvrrrremlp qqvgfvcavl alvccasglf gslghktasa skrvlpdtwr
       61 nrklmapvng tqtaknctdp aihefptdlf snkerqhgav llhilgalym fyalaivcdd
      121 ffvpslekic erlhlsedva gatfmaagss tpelfasvig vfithgdvgv gtivgsavfn
      181 ilciigvcgl fagqvvrltw wavcrdsvyy tisvivlivf iydeqivwwe glvliilyvf
      241 yilimkynvk mqafftvkqk siangnpvns eleavkekpq ygknpvvmvd eimsssppkf
      301 tfpeaglrim itnkfgprtr lrmasriiin erqrlinsan gvsskplqng rheniengnv
      361 pvenpedpqq nqeqqpppqp pppepepvea dflspfsvpe argdkvkwvf twplifllcv
      421 tipncskprw ekffmvtfit atlwiavfsy imvwlvtiig ytlgipdvim gitflaagts
      481 vpdcmasliv arqglgdmav sntigsnvfd ilvglgvpwg lqtmvvnygs tvkinsrglv
      541 ysvvlllgsv altvlgihln kwrldrklgv yvlvlyaifl cfsimiefnv ftfvnlpmcr
      601 edd
//
LOCUS       XP_054169709             255 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA replication complex GINS protein PSF3 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054169709
VERSION     XP_054169709.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313734.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..255
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..255
                     /product="DNA replication complex GINS protein PSF3
                     isoform X1"
                     /calculated_mol_wt=28644
     CDS             1..255
                     /gene="GINS3"
                     /gene_synonym="PSF3"
                     /coded_by="XM_054313734.1:667..1434"
                     /db_xref="GeneID:64785"
                     /db_xref="HGNC:HGNC:25851"
                     /db_xref="MIM:610610"
ORIGIN      
        1 mseayfrves galgpeenfl slddilmshe klpvrtetam prlgaffler sagaetdnav
       61 pqgfallprl ecsgviwlta altsqapeil ppqppmwlvl qgsklelplw lakglfdnkr
      121 rilsvelpki yqegwrtvfs adpnvvdlhk mgphfygfgs qllhfdspen adisqsllqt
      181 figrfrrimd ssqnaynedt salvarldem erglfqtgqk glndfqcwek gqasqitasn
      241 lvqnykkrkf tdmed
//
LOCUS       XP_054176131            1037 aa            linear   PRI 20-MAR-2023
DEFINITION  NACHT, LRR and PYD domains-containing protein 7 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054176131
VERSION     XP_054176131.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320156.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1037
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1037
                     /product="NACHT, LRR and PYD domains-containing protein 7
                     isoform X5"
                     /calculated_mol_wt=118245
     CDS             1..1037
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /coded_by="XM_054320156.1:288..3401"
                     /db_xref="GeneID:199713"
                     /db_xref="HGNC:HGNC:22947"
                     /db_xref="MIM:609661"
ORIGIN      
        1 mtspqlewtl qtlleqlned elksfksllw afpledvlqk tpwseveead gkklaeilvn
       61 tssenwirna tvnileemnl telckmakae mmedgqvqei dnpelgdaee dselakpgek
      121 egwrnsmekq slvwkntfwq gdidnfhddv tlrnqrfipf lnprtprklt pytvvlhgpa
      181 gvgkttlakk cmldwtdcnl sptlryafyl sckelsrmgp csfaeliskd wpelqddips
      241 ilaqaqrilf vvdgldelkv ppgaliqdic gdwekkkpvp vllgsllkrk mlpraallvt
      301 trpralrdlq llaqqpiyvr vegfleedrr ayflrhfgde dqamrafelm rsnaalfqlg
      361 sapavcwivc ttlklqmekg edpvptcltr tglflrflcs rfpqgaqlrg alrtlsllaa
      421 qglwaqmsvf hredlerlgv qesdlrlfld gdilrqdrvs kgcysfihls fqqfltalfy
      481 alekeeeedr dghawdigdv qkllsgeerl knpdliqvgh flfglanekr akeleatfgc
      541 rmspdikqel lqckahlhan kplsvtdlke vlgclyesqe eelakvvvap fkeisihltn
      601 tsevmhcsfs lkhcqdlqkl slqvakgvfl enymdfeldi eferctylti pnwarqdlrs
      661 lrlwtdfcsl fssnsnlkfl evkqsflsds svrilcdhvt rstchlqkve iknvtpdtay
      721 rdfclafigk ktlthltlag hiewertmml mlcdllrnhk cnlqylrlgg hcatpeqwae
      781 ffyvlkanqs lkhlrlsanv lldegamlly ktmtrpkhfl qmlslencrl teasckdlaa
      841 vlvvskklth lclaknpigd tgvkflcegl sypdcklqtl vlqqcsitkl gcrylsealq
      901 eacsltnldl sinqiarglw ilcqalenpn cnlkhlrlws cslmpfycqh lgsallsnqk
      961 letldlgqnh lwksgiiklf gvlrqrtgsl kilrlktyet nleikkllee vkeknpklti
     1021 dcnasgatap pccdffc
//
LOCUS       XP_054203216             511 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 23 isoform X1 [Homo sapiens].
ACCESSION   XP_054203216
VERSION     XP_054203216.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347241.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..511
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..511
                     /product="TBC1 domain family member 23 isoform X1"
                     /calculated_mol_wt=56948
     CDS             1..511
                     /gene="TBC1D23"
                     /gene_synonym="NS4ATP1; PCH11"
                     /coded_by="XM_054347241.1:146..1681"
                     /db_xref="GeneID:55773"
                     /db_xref="HGNC:HGNC:25622"
                     /db_xref="MIM:617687"
ORIGIN      
        1 mfclwisytk iklgslfacy cstevtqaiw dgylqqadpf fiyflmliil vnakeviltq
       61 esdskeevik flentpssln iediedlfsl aqyycsktpa sfrkdnhhlf gstllgikdd
      121 dadlsqalcl aisvseilqa nqlqgegvrf fvvdcrpaeq ynaghlstaf hldsdlmlqn
      181 psefaqsvks lleaqkqsie sgsiaggehl cfmgsgreee dmymnmvlah flqknkeyvs
      241 iasggfmalq qhladinvdg pengyghwia stsgsrssin svdgespngs sdrgmkslvn
      301 kmtvalktks vnvrekvisf ientstpvdr msfnlpwpdr scterhvsss drvgkpyrgv
      361 kpvfsigdee eydtdeidss smsdddrkev vniqtwinkp dvkhhfpcke vkesghmfps
      421 hllvtathmy clreivsrkg layiqsrqal nsvvkitskk khpelitfky gnssasgiei
      481 laierylipn agdatkaikq qimkvldale s
//
LOCUS       XP_054203718             388 aa            linear   PRI 20-MAR-2023
DEFINITION  upstream-binding protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_054203718
VERSION     XP_054203718.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347743.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..388
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..388
                     /product="upstream-binding protein 1 isoform X4"
                     /calculated_mol_wt=43117
     CDS             1..388
                     /gene="UBP1"
                     /gene_synonym="LBP-1a; LBP-1B; LBP1A; LBP1B"
                     /coded_by="XM_054347743.1:473..1639"
                     /db_xref="GeneID:7342"
                     /db_xref="HGNC:HGNC:12507"
                     /db_xref="MIM:609784"
ORIGIN      
        1 msvgiidtrt npsqlnavef lwdpakrtsa fiqvhciste ftprkhggek gvpfriqvdt
       61 fkqnengeyt dhlhsascqi kvfkpkgadr kqktdrekme krtahekeky qpsydttilt
      121 emrlepiied aveheqkkss krtlpadygd slakrgscsp wpdaptayvn nspspaptft
      181 spqqstcsvp dsnssspnhq gdgasqtsge qiqpsatiqe tqqwllknrf ssytrlfsnf
      241 sgadllkltk edlvqicgaa dgirlynslk srsvrprlti yvcreqpsst vlqgqqqaas
      301 sasengsgap yvyhaiylee miasevarkl alvfniplhq inqvyrqgpt gihilvsdqm
      361 vqnfqdescf lfstvkaess dgihiilk
//
LOCUS       XP_054204145            1431 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium-dependent secretion activator 1 isoform X49 [Homo sapiens].
ACCESSION   XP_054204145
VERSION     XP_054204145.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348170.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1431
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1431
                     /product="calcium-dependent secretion activator 1 isoform
                     X49"
                     /calculated_mol_wt=161528
     CDS             1..1431
                     /gene="CADPS"
                     /gene_synonym="CADPS1; CAPS; CAPS1; UNC-31"
                     /coded_by="XM_054348170.1:388..4683"
                     /db_xref="GeneID:8618"
                     /db_xref="HGNC:HGNC:1426"
                     /db_xref="MIM:604667"
ORIGIN      
        1 mldpssseee sdeiveeesg kevlgsapsg arlspsrtse gsagsaglgg ggagagagvg
       61 agggggsgas sgggagglqp ssragggrps spspsvvsek ekeelerlqk eeeerkkrlq
      121 lyvfvmrcia ypfnakqptd marrqqkisk qqlqtvkdrf qaflngetqi madeafmnav
      181 qsyyevflks drvarmvqsg gcsandsrev fkkhiekrvr slpeidglsk etvlsswmak
      241 fdaiyrgeed prkqqarmta saaselilsk eqlyemfqni lgikkfehql lynacqldnp
      301 deqaaqirre ldgrlqmadq iarerkfpkf vskemenmyi eelkssvnll manlesmpvs
      361 kggefklqkl krshnasiid mgeesenqls ksdvvlsfsl evvimevqgl kslapnrivy
      421 ctmeveggek lqtdqaeask ptwgtqgdfs tthalpavkv klftestgvl aledkelgrv
      481 ilhptpnspk qsewhkmtvs kncpdqdlki klavrmdkpq nmkhsgylwa igknvwkrwk
      541 krffvlvqvs qytfamcsyr ekkaepqell qldgytvdyt dpqpgleggr affnavkegd
      601 tvifasddeq drilwvqamy ratgqshkpv pptqvqklna kggnvpqlda pisqfyadra
      661 qkhgmdefis snpcnfdhas lfemvqrltl dhrlndsysc lgwfspgqvf vldeycarng
      721 vrgchrhlcy lrdlleraen gamidptllh ysfafcashv hgnsqqmhvy lsglppntdp
      781 egsktpsppe peakkdtkke skkrkdsktq anqelkrpdg igtvtveeke rfeeikerlr
      841 vllenqithf rycfpfgrpe galkatlsll ervlmkdivt pvpqeevktv irkcleqaal
      901 vnysrlseya kiegkkremy ehpvfclasq vmdltiqnvg rlitpakkle dtirlaelvi
      961 evlqqneehh aegkephvdk geafawwsdl mvehaetfls lfavdmdaal evqppdtwds
     1021 fplfqllndf lrtdynlcng kfhkhlqdlf aplvvryvdl messiaqsih rgfereswep
     1081 vksltsnlpn vnlpnvnlpk vpnlpvnipl gipqmptfsa pswmaaiyda dngsgtsedl
     1141 fwkldalqtf irdlhwpeee fgkhleqrlk lmasdmiesc vkrtriafev klqktsrstd
     1201 frvpqsictm fnvmvdakaq stklcsmemg qefakmwhqy hskideliee tvkemitllv
     1261 akfvtilegv laklsrydeg tlfssflsft vkaaskyvdv pkpgmdvada yvtfvrhsqd
     1321 vlrdkvneem yierlfdqwy nssmnvictw ltdrmdlqlh iyqlktlirm vkktyrdfrl
     1381 qgvldstlns ktyetirnrl tveeatasvs eggglqgism kdsdeedeed d
//
LOCUS       XP_054207326             303 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124900165 [Homo sapiens].
ACCESSION   XP_054207326
VERSION     XP_054207326.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351351.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..303
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..303
                     /product="uncharacterized protein LOC124900165"
                     /calculated_mol_wt=32915
     CDS             1..303
                     /gene="LOC124900165"
                     /coded_by="XM_054351351.1:10293..11204"
                     /db_xref="GeneID:124900165"
ORIGIN      
        1 mihlmalnec slkhlaklla ydvqktgcfi dtiiiisiit vitiivtami sttitvsisi
       61 iifitiliiv iiittitita tiftnipiit ititatiitn itiitittti iiiiisitvv
      121 tttiitnitt vtititiiti tiiiiiiisi tiiitttitn itnvaititi itvttamivt
      181 iititiiiii iiiitivtii iamvsiiiti sisiiifiti liiviiitii tiantiiiii
      241 iitiiittti itniniitvt itvivtiiti tttivitiis iidiidchdh hdnqhhlhhy
      301 rls
//
LOCUS       XP_054214738             484 aa            linear   PRI 20-MAR-2023
DEFINITION  RAD50-interacting protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054214738
VERSION     XP_054214738.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358763.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..484
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..484
                     /product="RAD50-interacting protein 1 isoform X3"
                     /calculated_mol_wt=55917
     CDS             1..484
                     /gene="RINT1"
                     /gene_synonym="ILFS3; RINT-1"
                     /coded_by="XM_054358763.1:169..1623"
                     /db_xref="GeneID:60561"
                     /db_xref="HGNC:HGNC:21876"
                     /db_xref="MIM:610089"
ORIGIN      
        1 mltplqkrfr yhfrgnrqtn vlskpewyla qvlmwignht efldekiqpi ldkvgslvna
       61 rlefsrglmm lvleklatdi pcllyddnlf chlvdevllf erelhsvhgy pgtfascmhi
      121 lseetcfqrw ltverkfalq kmdsmlssea awvsqykdit dvdemkvpdc aetfmtlllv
      181 itdryknlpt asrklqflel qkdlvddfri rltqvmkeet raslgfryca ilnavnyist
      241 vladwadnvf flqlqqaale vfaenntlsk lqlgqlasme ssvfddminl lerlkhdmlt
      301 rqvdhvfrev kdaaklykke rwlslpsqse qavmslsssa cpllltlrdh llqleqqlcf
      361 slfkifwqml vekldvyiyq eiilanhfne ggaaqlqfdm trnlfplfsh yckrpenyfk
      421 hikeacivln lnvgsalllk dvlqsasgql pataalnevg iyklaqqdve illnlrtnwp
      481 ntgk
//
LOCUS       XP_054216685             221 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA polymerase beta isoform X4 [Homo sapiens].
ACCESSION   XP_054216685
VERSION     XP_054216685.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360710.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..221
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..221
                     /product="DNA polymerase beta isoform X4"
                     /calculated_mol_wt=25572
     CDS             1..221
                     /gene="POLB"
                     /coded_by="XM_054360710.1:203..868"
                     /db_xref="GeneID:5423"
                     /db_xref="HGNC:HGNC:9174"
                     /db_xref="MIM:174760"
ORIGIN      
        1 mtilklknad lrknedklnh hqriglkyfg dfekripree mlqmqdivln evkkvdseyi
       61 atvcgsfrrg aessgdmdvl lthpsftses tkqpkllhqv veqlqkvhfi tdtlskgetk
      121 fmgvcqlpsk ndekeyphrr idirlipkdq yycgvlyftg sdifnknmra halekgftin
      181 eytirplgvt gvageplpvd sekdifdyiq wkyrepkdrs e
//
LOCUS       NP_001123484             337 aa            linear   PRI 25-MAR-2023
DEFINITION  Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform a [Homo
            sapiens].
ACCESSION   NP_001123484
VERSION     NP_001123484.1
DBSOURCE    REFSEQ: accession NM_001130012.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 337)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 337)
  AUTHORS   Saidu NEB, Filic V, Thomas M, Sarabia-Vega V, Dukic A, Miljkovic F,
            Banks L and Tomaic V.
  TITLE     PDZ Domain-Containing Protein NHERF-2 Is a Novel Target of Human
            Papillomavirus 16 (HPV-16) and HPV-18
  JOURNAL   J Virol 94 (1), e00663-19 (2019)
   PUBMED   31597772
  REMARK    GeneRIF: PDZ domain-containing protein NHERF-2 is a novel target of
            HPV-16 and HPV-18 E proteins.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 337)
  AUTHORS   Matos AM, Pinto FR, Barros P, Amaral MD, Pepperkok R and Matos P.
  TITLE     Inhibition of calpain 1 restores plasma membrane stability to
            pharmacologically rescued Phe508del-CFTR variant
  JOURNAL   J Biol Chem 294 (36), 13396-13410 (2019)
   PUBMED   31324722
REFERENCE   4  (residues 1 to 337)
  AUTHORS   Ritter-Makinson SL, Paquet M, Bogenpohl JW, Rodin RE, Chris Yun C,
            Weinman EJ, Smith Y and Hall RA.
  TITLE     Group II metabotropic glutamate receptor interactions with NHERF
            scaffold proteins: Implications for receptor localization in brain
  JOURNAL   Neuroscience 353, 58-75 (2017)
   PUBMED   28392297
  REMARK    GeneRIF: Studies support a role for NHERF-1 and NHERF-2 (Na+/H+
            exchanger regulatory factors 1 and 2) in regulating the
            distribution of Group II metabotropic glutamate receptor (mGluRs)
            in the murine brain, while conversely the effects of the mGluR2/3
            PDZ-binding motifs on receptor signaling are likely mediated by
            interactions with other PDZ scaffold proteins beyond the NHERF
            proteins.
REFERENCE   5  (residues 1 to 337)
  AUTHORS   Zizak M, Lamprecht G, Steplock D, Tariq N, Shenolikar S, Donowitz
            M, Yun CH and Weinman EJ.
  TITLE     cAMP-induced phosphorylation and inhibition of Na(+)/H(+) exchanger
            3 (NHE3) are dependent on the presence but not the phosphorylation
            of NHE regulatory factor
  JOURNAL   J Biol Chem 274 (35), 24753-24758 (1999)
   PUBMED   10455146
REFERENCE   6  (residues 1 to 337)
  AUTHORS   Imai K, Sarker AH, Akiyama K, Ikeda S, Yao M, Tsutsui K, Shohmori T
            and Seki S.
  TITLE     Genomic structure and sequence of a human homologue (NTHL1/NTH1) of
            Escherichia coli endonuclease III with those of the adjacent parts
            of TSC2 and SLC9A3R2 genes
  JOURNAL   Gene 222 (2), 287-295 (1998)
   PUBMED   9831664
REFERENCE   7  (residues 1 to 337)
  AUTHORS   Yun CH, Lamprecht G, Forster DV and Sidor A.
  TITLE     NHE3 kinase A regulatory protein E3KARP binds the epithelial brush
            border Na+/H+ exchanger NHE3 and the cytoskeletal protein ezrin
  JOURNAL   J Biol Chem 273 (40), 25856-25863 (1998)
   PUBMED   9748260
REFERENCE   8  (residues 1 to 337)
  AUTHORS   Hall RA, Ostedgaard LS, Premont RT, Blitzer JT, Rahman N, Welsh MJ
            and Lefkowitz RJ.
  TITLE     A C-terminal motif found in the beta2-adrenergic receptor, P2Y1
            receptor and cystic fibrosis transmembrane conductance regulator
            determines binding to the Na+/H+ exchanger regulatory factor family
            of PDZ proteins
  JOURNAL   Proc Natl Acad Sci U S A 95 (15), 8496-8501 (1998)
   PUBMED   9671706
REFERENCE   9  (residues 1 to 337)
  AUTHORS   Yun CH, Oh S, Zizak M, Steplock D, Tsao S, Tse CM, Weinman EJ and
            Donowitz M.
  TITLE     cAMP-mediated inhibition of the epithelial brush border Na+/H+
            exchanger, NHE3, requires an associated regulatory protein
  JOURNAL   Proc Natl Acad Sci U S A 94 (7), 3010-3015 (1997)
   PUBMED   9096337
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1997 Sep 2;94(18):10006]
REFERENCE   10 (residues 1 to 337)
  AUTHORS   Poulat F, de Santa Barbara P, Desclozeaux M, Soullier S, Moniot B,
            Bonneaud N, Boizet B and Berta P.
  TITLE     The human testis determining factor SRY binds a nuclear factor
            containing PDZ protein interaction domains
  JOURNAL   J Biol Chem 272 (11), 7167-7172 (1997)
   PUBMED   9054412
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC014513.1 and AC093513.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the NHERF family of PDZ
            scaffolding proteins. These proteins mediate many cellular
            processes by binding to and regulating the membrane expression and
            protein-protein interactions of membrane receptors and transport
            proteins. The encoded protein plays a role in intestinal sodium
            absorption by regulating the activity of the sodium/hydrogen
            exchanger 3, and may also regulate the cystic fibrosis
            transmembrane regulator (CFTR) ion channel. Alternatively spliced
            transcript variants encoding multiple isoforms have been observed
            for this gene. [provided by RefSeq, Nov 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC014513.1, AF004900.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000424542.7/ ENSP00000408005.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..337
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..337
                     /product="Na(+)/H(+) exchange regulatory cofactor NHE-RF2
                     isoform a"
                     /note="solute carrier family 9, subfamily A (NHE3, cation
                     proton antiporter 3), member 3 regulator 2; Na(+)/H(+)
                     exchange regulatory cofactor NHE-RF2; SRY-interacting
                     protein 1; tyrosine kinase activator protein 1; NHE3
                     kinase A regulatory protein E3KARP; NHE3 regulatory factor
                     2; SLC9A3 regulator 2; sodium/hydrogen exchanger 3 kinase
                     A regulatory protein; solute carrier family 9
                     (sodium/hydrogen exchanger), member 3 regulator 2;
                     Na(+)/H(+) exchange regulatory cofactor 2"
                     /calculated_mol_wt=37283
     Region          9..88
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(20..23,25,72..73,76..77)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          107..144
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15599.2)"
     Site            130
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JHL1; propagated from
                     UniProtKB/Swiss-Prot (Q15599.2)"
     Region          149..228
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(160..163,165,212..213,216..217)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Site            183
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q15599.2)"
     Region          232..337
                     /region_name="EBP50_C"
                     /note="EBP50, C-terminal; pfam09007"
                     /db_xref="CDD:430367"
     Region          240..337
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15599.2)"
     Site            254
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q15599.2)"
     Site            269
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JHL1; propagated from
                     UniProtKB/Swiss-Prot (Q15599.2)"
     Site            280
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q15599.2)"
     Site            303
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15599.2)"
     CDS             1..337
                     /gene="NHERF2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; OCTS2; SIP-1;
                     SIP1; SLC9A3R2; TKA-1"
                     /coded_by="NM_001130012.3:105..1118"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS45382.1"
                     /db_xref="GeneID:9351"
                     /db_xref="HGNC:HGNC:11076"
                     /db_xref="MIM:606553"
ORIGIN      
        1 maapeplrpr lcrlvrgeqg ygfhlhgekg rrgqfirrve pgspaeaaal ragdrlvevn
       61 gvnvegethh qvvqrikave gqtrllvvdq etdeelrrrq ltcteemaqr glppahdpwe
      121 pkpdwahtgs hsseagkkdv sgplrelrpr lchlrkgpqg ygfnlhsdks rpgqyirsvd
      181 pgspaarsgl raqdrlievn gqnveglrha evvasikare dearllvvdp etdehfkrlr
      241 vtpteehveg plpspvtngt spaqlnggsa cssrsdlpgs dkdtedgsaw kqdpfqesgl
      301 hlsptaaeak ekaramrvnk rapqmdwnrk reifsnf
//
LOCUS       NP_001395408             690 aa            linear   PRI 25-MAR-2023
DEFINITION  breast cancer type 1 susceptibility protein isoform 127 [Homo
            sapiens].
ACCESSION   NP_001395408
VERSION     NP_001395408.1
DBSOURCE    REFSEQ: accession NM_001408479.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 690)
  AUTHORS   Orban TI and Olah E.
  TITLE     Emerging roles of BRCA1 alternative splicing
  JOURNAL   Mol Pathol 56 (4), 191-197 (2003)
   PUBMED   12890739
  REMARK    Review article
REFERENCE   2  (residues 1 to 690)
  AUTHORS   Orban TI and Olah E.
  TITLE     Expression profiles of BRCA1 splice variants in asynchronous and in
            G1/S synchronized tumor cell lines
  JOURNAL   Biochem Biophys Res Commun 280 (1), 32-38 (2001)
   PUBMED   11162473
REFERENCE   3  (residues 1 to 690)
  AUTHORS   Paterson JW.
  TITLE     BRCA1: a review of structure and putative functions
  JOURNAL   Dis Markers 13 (4), 261-274 (1998)
   PUBMED   9553742
  REMARK    Review article
REFERENCE   4  (residues 1 to 690)
  AUTHORS   Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S,
            Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E.
  TITLE     Mutations and alternative splicing of the BRCA1 gene in UK
            breast/ovarian cancer families
  JOURNAL   Genes Chromosomes Cancer 18 (2), 102-110 (1997)
   PUBMED   9115959
REFERENCE   5  (residues 1 to 690)
  AUTHORS   Wilson CA, Payton MN, Elliott GS, Buaas FW, Cajulis EE, Grosshans
            D, Ramos L, Reese DM, Slamon DJ and Calzone FJ.
  TITLE     Differential subcellular localization, expression and biological
            toxicity of BRCA1 and the splice variant BRCA1-delta11b
  JOURNAL   Oncogene 14 (1), 1-16 (1997)
   PUBMED   9010228
REFERENCE   6  (residues 1 to 690)
  AUTHORS   Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, Yao J, Farid
            LM, Couch FJ, Wilson RB and Weber BL.
  TITLE     Localization of BRCA1 and a splice variant identifies the nuclear
            localization signal
  JOURNAL   Mol Cell Biol 17 (1), 444-452 (1997)
   PUBMED   8972225
REFERENCE   7  (residues 1 to 690)
  AUTHORS   Lu M, Conzen SD, Cole CN and Arrick BA.
  TITLE     Characterization of functional messenger RNA splice variants of
            BRCA1 expressed in nonmalignant and tumor-derived breast cells
  JOURNAL   Cancer Res 56 (20), 4578-4581 (1996)
   PUBMED   8840964
REFERENCE   8  (residues 1 to 690)
  AUTHORS   Holt JT, Thompson ME, Szabo C, Robinson-Benion C, Arteaga CL, King
            MC and Jensen RA.
  TITLE     Growth retardation and tumour inhibition by BRCA1
  JOURNAL   Nat Genet 12 (3), 298-302 (1996)
   PUBMED   8589721
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
REFERENCE   9  (residues 1 to 690)
  AUTHORS   Xu CF, Brown MA, Chambers JA, Griffiths B, Nicolai H and Solomon E.
  TITLE     Distinct transcription start sites generate two forms of BRCA1 mRNA
  JOURNAL   Hum Mol Genet 4 (12), 2259-2264 (1995)
   PUBMED   8634696
REFERENCE   10 (residues 1 to 690)
  AUTHORS   Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K,
            Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al.
  TITLE     A strong candidate for the breast and ovarian cancer susceptibility
            gene BRCA1
  JOURNAL   Science 266 (5182), 66-71 (1994)
   PUBMED   7545954
REFERENCE   11 (residues 1 to 690)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
REFERENCE   12 (residues 1 to 690)
  AUTHORS   Petrucelli,N., Daly,M.B. and Pal,T.
  TITLE     BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135721.4.
            
            Summary: This gene encodes a 190 kD nuclear phosphoprotein that
            plays a role in maintaining genomic stability, and it also acts as
            a tumor suppressor. The BRCA1 gene contains 22 exons spanning about
            110 kb of DNA. The encoded protein combines with other tumor
            suppressors, DNA damage sensors, and signal transducers to form a
            large multi-subunit protein complex known as the BRCA1-associated
            genome surveillance complex (BASC). This gene product associates
            with RNA polymerase II, and through the C-terminal domain, also
            interacts with histone deacetylase complexes. This protein thus
            plays a role in transcription, DNA repair of double-stranded
            breaks, and recombination. Mutations in this gene are responsible
            for approximately 40% of inherited breast cancers and more than 80%
            of inherited breast and ovarian cancers. Alternative splicing plays
            a role in modulating the subcellular localization and physiological
            function of this gene. Many alternatively spliced transcript
            variants, some of which are disease-associated mutations, have been
            described for this gene, but the full-length natures of only some
            of these variants has been described. A related pseudogene, which
            is also located on chromosome 17, has been identified. [provided by
            RefSeq, May 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1252353.1,
                                           SRR14372080.4471522.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..690
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..690
                     /product="breast cancer type 1 susceptibility protein
                     isoform 127"
                     /EC_number="2.3.2.27"
                     /note="BRCA1/BRCA2-containing complex, subunit 1; RING
                     finger protein 53; breast cancer type 1 susceptibility
                     protein; breast and ovarian cancer susceptibility protein
                     1; protein phosphatase 1, regulatory subunit 53; Fanconi
                     anemia, complementation group S; early onset breast cancer
                     1; breast cancer 1, early onset"
                     /calculated_mol_wt=76955
     Region          <2..29
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Region          477..573
                     /region_name="BRCT_BRCA1_rpt1"
                     /note="first BRCT domain of breast cancer type 1
                     susceptibility protein (BRCA1) and similar proteins;
                     cd17735"
                     /db_xref="CDD:349367"
     Site            order(481..483,485,525..529,531,567)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349367"
     Region          585..682
                     /region_name="BRCT_BRCA1_rpt2"
                     /note="second (C-terminal) BRCT domain of breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd17721"
                     /db_xref="CDD:349353"
     Site            order(601..602,662..663,667,679..680)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349353"
     CDS             1..690
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /coded_by="NM_001408479.1:302..2374"
                     /note="isoform 127 is encoded by transcript variant 336"
                     /db_xref="GeneID:672"
                     /db_xref="HGNC:HGNC:1100"
                     /db_xref="MIM:113705"
ORIGIN      
        1 mslqestrfs qlveellkii cafqldtgle yansynfakk ennspehlkd evsiiqsmgy
       61 rnrakrllqs epenpslqet slsvqlsnlg tvrtlrtkqr iqpqktsvyi elgsdssedt
      121 vnkatycsvg dqellqitpq gtrdeislds akkaacefse tdvtntehhq psnndlntte
      181 kraaerhpek yqgeaasgce setsvsedcs glssqsdilt tqqrdtmqhn liklqqemae
      241 leavleqhgs qpsnsypsii sdssaledlr npeqstseka vltsqkssey pisqnpegls
      301 adkfevsads stsknkepgv ersspskcps lddrwymhsc sgslqnrnyp sqeelikvvd
      361 veeqqleesg phdltetsyl prqdlegtpy lesgislfsd dpesdpsedr apesarvgni
      421 psstsalkvp qlkvaesaqs paaahttdta gynameesvs rekpeltast ervnkrmsmv
      481 vsgltpeefm lvykfarkhh itltnlitee tthvvmktda efvcertlky flgiaggkwv
      541 vsyfwvtqsi kerkmlnehd fevrgdvvng rnhqgpkrar esqdrkifrg leiccygpft
      601 nmptdqlewm vqlcgasvvk elssftlgtg vhpivvvqpd awtedngfha igqmceapvv
      661 trewvldsva lyqcqeldty lipqiphshy
//
LOCUS       NP_001369556             968 aa            linear   PRI 10-APR-2023
DEFINITION  nuclear factor NF-kappa-B p105 subunit isoform 2 proprotein [Homo
            sapiens].
ACCESSION   NP_001369556
VERSION     NP_001369556.1
DBSOURCE    REFSEQ: accession NM_001382627.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 968)
  AUTHORS   Nie Y, Mou L, Long Q, Deng D, Hu R, Cheng J and Wu J.
  TITLE     SARS-CoV-2 ORF3a positively regulates NF-kappaB activity by
            enhancing IKKbeta-NEMO interaction
  JOURNAL   Virus Res 328, 199086 (2023)
   PUBMED   36894068
  REMARK    GeneRIF: SARS-CoV-2 ORF3a positively regulates NF-kappaB activity
            by enhancing IKKbeta-NEMO interaction.
REFERENCE   2  (residues 1 to 968)
  AUTHORS   Mussbacher M, Derler M, Basilio J and Schmid JA.
  TITLE     NF-kappaB in monocytes and macrophages - an inflammatory master
            regulator in multitalented immune cells
  JOURNAL   Front Immunol 14, 1134661 (2023)
   PUBMED   36911661
  REMARK    GeneRIF: NF-kappaB in monocytes and macrophages - an inflammatory
            master regulator in multitalented immune cells.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 968)
  AUTHORS   Pereira EEB, Modesto AAC, Fernandes BM, Burbano RMR, Assumpcao PP,
            Fernandes MR, Guerreiro JF, Santos SEBD and Santos NPCD.
  TITLE     Association between Polymorphism of Genes IL-1A, NFKB1, PAR1, TP53,
            and UCP2 and Susceptibility to Non-Small Cell Lung Cancer in the
            Brazilian Amazon
  JOURNAL   Genes (Basel) 14 (2), 461 (2023)
   PUBMED   36833388
  REMARK    GeneRIF: Association between Polymorphism of Genes IL-1A, NFKB1,
            PAR1, TP53, and UCP2 and Susceptibility to Non-Small Cell Lung
            Cancer in the Brazilian Amazon.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 968)
  AUTHORS   Eluard B, Thieblemont C and Baud V.
  TITLE     NF-kappaB in the New Era of Cancer Therapy
  JOURNAL   Trends Cancer 6 (8), 677-687 (2020)
   PUBMED   32409139
  REMARK    Review article
REFERENCE   5  (residues 1 to 968)
  AUTHORS   Lin L and Ghosh S.
  TITLE     A glycine-rich region in NF-kappaB p105 functions as a processing
            signal for the generation of the p50 subunit
  JOURNAL   Mol Cell Biol 16 (5), 2248-2254 (1996)
   PUBMED   8628291
REFERENCE   6  (residues 1 to 968)
  AUTHORS   Muller CW, Rey FA, Sodeoka M, Verdine GL and Harrison SC.
  TITLE     Structure of the NF-kappa B p50 homodimer bound to DNA
  JOURNAL   Nature 373 (6512), 311-317 (1995)
   PUBMED   7830764
REFERENCE   7  (residues 1 to 968)
  AUTHORS   Kunsch C, Ruben SM and Rosen CA.
  TITLE     Selection of optimal kappa B/Rel DNA-binding motifs: interaction of
            both subunits of NF-kappa B with DNA is required for
            transcriptional activation
  JOURNAL   Mol Cell Biol 12 (10), 4412-4421 (1992)
   PUBMED   1406630
REFERENCE   8  (residues 1 to 968)
  AUTHORS   Taylor JP, Pomerantz R, Bagasra O, Chowdhury M, Rappaport J,
            Khalili K and Amini S.
  TITLE     TAR-independent transactivation by Tat in cells derived from the
            CNS: a novel mechanism of HIV-1 gene regulation
  JOURNAL   EMBO J 11 (9), 3395-3403 (1992)
   PUBMED   1505523
REFERENCE   9  (residues 1 to 968)
  AUTHORS   Urban MB, Schreck R and Baeuerle PA.
  TITLE     NF-kappa B contacts DNA by a heterodimer of the p50 and p65 subunit
  JOURNAL   EMBO J 10 (7), 1817-1825 (1991)
   PUBMED   2050119
REFERENCE   10 (residues 1 to 968)
  AUTHORS   Bours V, Villalobos J, Burd PR, Kelly K and Siebenlist U.
  TITLE     Cloning of a mitogen-inducible gene encoding a kappa B DNA-binding
            protein with homology to the rel oncogene and to cell-cycle motifs
  JOURNAL   Nature 348 (6296), 76-80 (1990)
   PUBMED   2234062
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF213884.2.
            
            Summary: This gene encodes a 105 kD protein which can undergo
            cotranslational processing by the 26S proteasome to produce a 50 kD
            protein. The 105 kD protein is a Rel protein-specific transcription
            inhibitor and the 50 kD protein is a DNA binding subunit of the
            NF-kappa-B (NFKB) protein complex. NFKB is a transcription
            regulator that is activated by various intra- and extra-cellular
            stimuli such as cytokines, oxidant-free radicals, ultraviolet
            irradiation, and bacterial or viral products. Activated NFKB
            translocates into the nucleus and stimulates the expression of
            genes involved in a wide variety of biological functions.
            Inappropriate activation of NFKB has been associated with a number
            of inflammatory diseases while persistent inhibition of NFKB leads
            to inappropriate immune cell development or delayed cell growth.
            NFKB is a critical regulator of the immediate-early response to
            viral infection. Alternative splicing results in multiple
            transcript variants encoding different isoforms, at least one of
            which is proteolytically processed. [provided by RefSeq, Aug 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.715645.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            coronavirus related              :: involved in immune response or
                                                antiviral activity
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..968
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q24"
     Protein         1..968
                     /product="nuclear factor NF-kappa-B p105 subunit isoform 2
                     proprotein"
                     /note="nuclear factor kappa-B DNA binding subunit; nuclear
                     factor NF-kappa-B p50 subunit; nuclear factor NF-kappa-B
                     p105 subunit; DNA-binding factor KBF1; nuclear factor of
                     kappa light polypeptide gene enhancer in B-cells 1"
                     /calculated_mol_wt=105225
     mat_peptide     1..433
                     /product="Nuclear factor NF-kappa-B p50 subunit.
                     /id=PRO_0000030311"
                     /note="propagated from UniProtKB/Swiss-Prot (P19838.2)"
                     /calculated_mol_wt=47508
     Region          42..243
                     /region_name="RHD-n_NFkB1"
                     /note="N-terminal sub-domain of the Rel homology domain
                     (RHD) of nuclear factor of kappa B1 (NF-kappa B1);
                     cd07935"
                     /db_xref="CDD:143651"
     Site            order(56,58..59,61..62,65..68,143,145..146,243)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143651"
     Region          250..351
                     /region_name="IPT_NFkappaB"
                     /note="IPT domain of the transcription factor NFkappaB and
                     related transcription factors. NFkappaB is considered a
                     central regulator of stress responses, activated by
                     different stressful conditions, including physical stress,
                     oxidative stress, and exposure to...; cd01177"
                     /db_xref="CDD:238582"
     Site            order(251,253..255,257..259,299..301,314,326,345,348,350)
                     /site_type="other"
                     /note="ankyrin protein binding site [polypeptide binding]"
                     /db_xref="CDD:238582"
     Site            order(253..254,256,269,271,273,306..307,310,312)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238582"
     Site            order(274,276,307..308)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238582"
     Site            337
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKA. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P19838.2)"
     Region          360..365
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P19838.2)"
     Region          372..394
                     /region_name="GRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P19838.2)"
     Region          425..453
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P19838.2)"
     Site            431
                     /site_type="acetylation"
                     /note="N6-acetyllysine, by EP300.
                     /evidence=ECO:0000305|PubMed:11739381; propagated from
                     UniProtKB/Swiss-Prot (P19838.2)"
     Site            433..434
                     /site_type="cleavage"
                     /note="Cleavage (when cotranslationally processed);
                     propagated from UniProtKB/Swiss-Prot (P19838.2)"
     Region          435..968
                     /region_name="Interaction with CFLAR.
                     /evidence=ECO:0000269|PubMed:13679070"
                     /note="propagated from UniProtKB/Swiss-Prot (P19838.2)"
     Site            440
                     /site_type="acetylation"
                     /note="N6-acetyllysine, by EP300.
                     /evidence=ECO:0000305|PubMed:11739381; propagated from
                     UniProtKB/Swiss-Prot (P19838.2)"
     Site            441
                     /site_type="acetylation"
                     /note="N6-acetyllysine, by EP300.
                     /evidence=ECO:0000305|PubMed:11739381; propagated from
                     UniProtKB/Swiss-Prot (P19838.2)"
     Site            449
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P25799; propagated from
                     UniProtKB/Swiss-Prot (P19838.2)"
     Region          499..705
                     /region_name="ANKYR"
                     /note="Ankyrin repeat [Signal transduction mechanisms];
                     COG0666"
                     /db_xref="CDD:223738"
     Site            order(542,544,548..549,552..554,556..557,561,564,579,581,
                     583,587..588,591..593,595..596,600,603,612,614,616,
                     620..621,624..626,628..629,633,636)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          542..579
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          581..612
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          586..680
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          650..684
                     /region_name="Essential for interaction with HIF1AN.
                     /evidence=ECO:0000269|PubMed:17003112"
                     /note="propagated from UniProtKB/Swiss-Prot (P19838.2)"
     Region          650..680
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            678
                     /site_type="hydroxylation"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:17003112; propagated from
                     UniProtKB/Swiss-Prot (P19838.2)"
     Region          684..716
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          689..>732
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Site            759
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q63369; propagated from
                     UniProtKB/Swiss-Prot (P19838.2)"
     Region          815..890
                     /region_name="Death_NFkB1_p105"
                     /note="Death domain of the Nuclear Factor-KappaB1
                     precursor protein p105; cd08797"
                     /db_xref="CDD:260063"
     Site            892
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P19838.2)"
     Site            903
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by GSK3-beta, in vitro.
                     /evidence=ECO:0000269|PubMed:12871932,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P19838.2)"
     Site            907
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by GSK3-beta, in vitro.
                     /evidence=ECO:0000269|PubMed:12871932,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P19838.2)"
     Site            927
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by IKKB.
                     /evidence=ECO:0000269|PubMed:11297557,
                     ECO:0000269|PubMed:12482991; propagated from
                     UniProtKB/Swiss-Prot (P19838.2)"
     Site            932
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by IKKB.
                     /evidence=ECO:0000269|PubMed:12482991; propagated from
                     UniProtKB/Swiss-Prot (P19838.2)"
     Site            937
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P19838.2)"
     Site            943
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P25799; propagated from
                     UniProtKB/Swiss-Prot (P19838.2)"
     CDS             1..968
                     /gene="NFKB1"
                     /gene_synonym="CVID12; EBP-1; KBF1; NF-kappa-B1;
                     NF-kappaB; NF-kappabeta; NF-kB; NF-kB1; NFkappaB;
                     NFKB-p105; NFKB-p50"
                     /coded_by="NM_001382627.1:508..3414"
                     /note="isoform 2 proprotein is encoded by transcript
                     variant 6"
                     /db_xref="CCDS:CCDS54783.1"
                     /db_xref="GeneID:4790"
                     /db_xref="HGNC:HGNC:7794"
                     /db_xref="MIM:164011"
ORIGIN      
        1 maeddpylgr peqmfhldps lthtifnpev fqpqmalptd gpylqileqp kqrgfrfryv
       61 cegpshgglp gasseknkks ypqvkicnyv gpakvivqlv tngknihlha hslvgkhced
      121 gictvtagpk dmvvgfanlg ilhvtkkkvf etlearmtea cirgynpgll vhpdlaylqa
      181 egggdrqlgd rekelirqaa lqqtkemdls vvrlmftafl pdstgsftrr lepvvsdaiy
      241 dskapnasnl kivrmdrtag cvtggeeiyl lcdkvqkddi qirfyeeeen ggvwegfgdf
      301 sptdvhrqfa ivfktpkykd initkpasvf vqlrrksdle tsepkpflyy peikdkeevq
      361 rkrqklmpnf sdsfgggsga gaggggmfgs ggggggtgst gpgysfphyg fptyggitfh
      421 pgttksnagm khgtmdtesk kdpegcdksd dkntvnlfgk vietteqdqe pseatvgnge
      481 vtltyatgtk eesagvqdnl flekamqlak rhanalfdya vtgdvkmlla vqrhltavqd
      541 engdsvlhla iihlhsqlvr dllevtsgli sddiinmrnd lyqtplhlav itkqedvved
      601 llragadlsl ldrlgnsvlh laakeghdkv lsillkhkka allldhpngd glnaihlamm
      661 snslpcllll vaagadvnaq eqksgrtalh lavehdnisl agclllegda hvdsttydgt
      721 tplhiaagrg strlaallka agadplvenf eplydlddsw enagedegvv pgttpldmat
      781 swqvfdilng kpyepeftsd dllaqgdmkq laedvklqly klleipdpdk nwatlaqklg
      841 lgilnnafrl spapsktlmd nyevsggtvr elvealrqmg yteaieviqa asspvkttsq
      901 ahslplspas trqqidelrd sdsvcdsgve tsfrklsfte sltsgasllt lnkmphdygq
      961 egplegki
//
LOCUS       NP_001350765             306 aa            linear   PRI 18-DEC-2022
DEFINITION  rhomboid-related protein 3 isoform 5 [Homo sapiens].
ACCESSION   NP_001350765
VERSION     NP_001350765.1
DBSOURCE    REFSEQ: accession NM_001363836.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 306)
  AUTHORS   Lastun VL, Levet C and Freeman M.
  TITLE     The mammalian rhomboid protein RHBDL4 protects against endoplasmic
            reticulum stress by regulating the morphology and distribution of
            ER sheets
  JOURNAL   J Biol Chem 298 (6), 101935 (2022)
   PUBMED   35436469
  REMARK    GeneRIF: The mammalian rhomboid protein RHBDL4 protects against
            endoplasmic reticulum stress by regulating the morphology and
            distribution of ER sheets.
REFERENCE   2  (residues 1 to 306)
  AUTHORS   Freeman M.
  TITLE     The rhomboid-like superfamily: molecular mechanisms and biological
            roles
  JOURNAL   Annu Rev Cell Dev Biol 30, 235-254 (2014)
   PUBMED   25062361
  REMARK    Review article
REFERENCE   3  (residues 1 to 306)
  AUTHORS   Bergbold N and Lemberg MK.
  TITLE     Emerging role of rhomboid family proteins in mammalian biology and
            disease
  JOURNAL   Biochim Biophys Acta 1828 (12), 2840-2848 (2013)
   PUBMED   23562403
  REMARK    Review article
REFERENCE   4  (residues 1 to 306)
  AUTHORS   Lemberg MK.
  TITLE     Sampling the membrane: function of rhomboid-family proteins
  JOURNAL   Trends Cell Biol 23 (5), 210-217 (2013)
   PUBMED   23369641
  REMARK    Review article
REFERENCE   5  (residues 1 to 306)
  AUTHORS   Urban S and Dickey SW.
  TITLE     The rhomboid protease family: a decade of progress on function and
            mechanism
  JOURNAL   Genome Biol 12 (10), 231 (2011)
   PUBMED   22035660
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 306)
  AUTHORS   Jaszai J and Brand M.
  TITLE     Cloning and expression of Ventrhoid, a novel vertebrate homologue
            of the Drosophila EGF pathway gene rhomboid
  JOURNAL   Mech Dev 113 (1), 73-77 (2002)
   PUBMED   11900977
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC100978.1 and AC005899.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC100978.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1968968 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..306
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     Protein         1..306
                     /product="rhomboid-related protein 3 isoform 5"
                     /EC_number="3.4.21.105"
                     /note="ventrhoid transmembrane protein; rhomboid-related
                     protein 3; rhomboid, veinlet-like 4; rhomboid,
                     veinlet-like 3"
                     /calculated_mol_wt=34377
     Region          107..261
                     /region_name="Rhomboid"
                     /note="Rhomboid family; pfam01694"
                     /db_xref="CDD:426384"
     CDS             1..306
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
                     /coded_by="NM_001363836.1:288..1208"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS92287.1"
                     /db_xref="GeneID:162494"
                     /db_xref="HGNC:HGNC:16502"
                     /db_xref="MIM:619017"
ORIGIN      
        1 msnkrsnsfr qailqgnrrl sskalleekg lslsqrlirh vayetlprei drkwyydsyt
       61 ccpppwfmit vtllevaffl yngvslgqfv lqvthprylk nslvyhpqlr aqvwryltyi
      121 fmhagiehlg lnvvlqllvg vplemvhgat riglvyvagv vagslavsva dmtapvvgss
      181 ggvyalvsah lanivmnwsg mkcqfkllrm avalicmsme fgravwlrfh psayppcphp
      241 sfvahlggva vgitlgvvvl rnyeqrlqdq slwwifvamy tvfvlfavfw nifaytlldl
      301 klpppp
//
LOCUS       NP_036499                313 aa            linear   PRI 20-DEC-2022
DEFINITION  olfactory receptor 2B6 [Homo sapiens].
ACCESSION   NP_036499
VERSION     NP_036499.1
DBSOURCE    REFSEQ: accession NM_012367.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 313)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (residues 1 to 313)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD,
            Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker
            DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP,
            Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY,
            Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman
            LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M,
            Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD,
            Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ,
            Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S,
            Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL,
            Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL,
            Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson
            CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK,
            Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR,
            Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M,
            Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A,
            Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K,
            Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore
            B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM,
            Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith
            M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G,
            Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A,
            Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL,
            Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt
            JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard
            T, Sulston JE, Dunham I, Rogers J and Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   3  (residues 1 to 313)
  AUTHORS   Rouquier S, Taviaux S, Trask BJ, Brand-Arpon V, van den Engh G,
            Demaille J and Giorgi D.
  TITLE     Distribution of olfactory receptor genes in the human genome
  JOURNAL   Nat Genet 18 (3), 243-250 (1998)
   PUBMED   9500546
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL133267.9.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC109251.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000244623.1/ ENSP00000244623.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     Protein         1..313
                     /product="olfactory receptor 2B6"
                     /note="olfactory receptor, family 2, subfamily B, member 6
                     pseudogene; olfactory receptor, family 2, subfamily B,
                     member 5; olfactory receptor, family 2, subfamily B,
                     member 1 pseudogene; olfactory receptor OR6-4; hs6M1-32;
                     olfactory receptor 2B1; olfactory receptor 2B5; olfactory
                     receptor 5-40; olfactory receptor 6-31"
                     /calculated_mol_wt=35283
     Site            5
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P58173.1)"
     Region          25..294
                     /region_name="7tmA_OR2B-like"
                     /note="olfactory receptor subfamily 2B and related
                     proteins, member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15947"
                     /db_xref="CDD:320613"
     Region          26..52
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320613"
     Site            26..49
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P58173.1)"
     Site            58..79
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P58173.1)"
     Region          59..85
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320613"
     Site            order(81,84..85,97..102,104..105,108,153,155..159,195,
                     198..200,202..204,206..207,252,255..256,258..259,262,
                     268..269,271..273,276,279..280)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320613"
     Region          97..127
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320613"
     Site            101..120
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P58173.1)"
     Region          140..161
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320613"
     Site            140..158
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P58173.1)"
     Region          195..225
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320613"
     Site            196..219
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P58173.1)"
     Region          232..262
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320613"
     Site            237..259
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P58173.1)"
     Region          269..294
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320613"
     Site            273..292
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P58173.1)"
     CDS             1..313
                     /gene="OR2B6"
                     /gene_synonym="dJ408B20.2; OR2B1; OR2B1P; OR2B5; OR2B6P;
                     OR5-40; OR5-41; OR6-31"
                     /coded_by="NM_012367.1:1..942"
                     /db_xref="CCDS:CCDS4642.1"
                     /db_xref="GeneID:26212"
                     /db_xref="HGNC:HGNC:8241"
ORIGIN      
        1 mnwvndsiiq efillgfsdr pwlefpllvv flisytvtif gnltiilvsr ldtklhtpmy
       61 ffltnlslld lcyttctvpq mlvnlcsirk visyrgcvaq lfiflalgat eylllavmsf
      121 drfvaicrpl hysvimhqrl clqlaaaswv tgfsnsvwls tltlqlplcd pyvidhflce
      181 vpallklscv ettaneaelf lvselfhlip ltlilisyaf ivravlriqs aegrqkafgt
      241 cgshlivvsl fystavsvyl qppspsskdq gkmvslfygi iapmlnpliy tlrnkevkeg
      301 fkrlvarvfl ikk
//
LOCUS       NP_001159635            1090 aa            linear   PRI 21-DEC-2022
DEFINITION  neurabin-1 isoform 5 [Homo sapiens].
ACCESSION   NP_001159635
VERSION     NP_001159635.1
DBSOURCE    REFSEQ: accession NM_001166163.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1090)
  AUTHORS   Thurner L, Preuss KD, Bewarder M, Kemele M, Fadle N, Regitz E,
            Altmeyer S, Schormann C, Poeschel V, Ziepert M, Walter S, Roth P,
            Weller M, Szczepanowski M, Klapper W, Monoranu C, Rosenwald A,
            Moller P, Hartmann S, Hansmann ML, Mackensen A, Schafer H, Schorb
            E, Illerhaus G, Buslei R, Bohle RM, Stilgenbauer S, Kim YJ and
            Pfreundschuh M.
  TITLE     Hyper-N-glycosylated SAMD14 and neurabin-I as driver autoantigens
            of primary central nervous system lymphoma
  JOURNAL   Blood 132 (26), 2744-2753 (2018)
   PUBMED   30249786
  REMARK    GeneRIF: Hyper-N-glycosylated SAMD14 and neurabin-I as driver
            autoantigens of primary central nervous system lymphoma.
REFERENCE   2  (residues 1 to 1090)
  AUTHORS   Yadav L, Tamene F, Goos H, van Drogen A, Katainen R, Aebersold R,
            Gstaiger M and Varjosalo M.
  TITLE     Systematic Analysis of Human Protein Phosphatase Interactions and
            Dynamics
  JOURNAL   Cell Syst 4 (4), 430-444 (2017)
   PUBMED   28330616
REFERENCE   3  (residues 1 to 1090)
  AUTHORS   Konopaske GT, Subburaju S, Coyle JT and Benes FM.
  TITLE     Altered prefrontal cortical MARCKS and PPP1R9A mRNA expression in
            schizophrenia and bipolar disorder
  JOURNAL   Schizophr Res 164 (1-3), 100-108 (2015)
   PUBMED   25757715
  REMARK    GeneRIF: MARCKS and PPP1R9A might contribute to spine loss in
            schizophrenia and bipolar disorder through their interactions.
REFERENCE   4  (residues 1 to 1090)
  AUTHORS   Finalet Ferreiro J, Rouhigharabaei L, Urbankova H, van der Krogt
            JA, Michaux L, Shetty S, Krenacs L, Tousseyn T, De Paepe P,
            Uyttebroeck A, Verhoef G, Taghon T, Vandenberghe P, Cools J and
            Wlodarska I.
  TITLE     Integrative genomic and transcriptomic analysis identified
            candidate genes implicated in the pathogenesis of hepatosplenic
            T-cell lymphoma
  JOURNAL   PLoS One 9 (7), e102977 (2014)
   PUBMED   25057852
  REMARK    GeneRIF: CHN2, ABCB1 and PPP1R9A expression on chromosome 7 is
            implicated in the pathogenesis of hepatosplenic T-cell lymphoma
            distinguishing it from other malignancies.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1090)
  AUTHORS   Peti W, Nairn AC and Page R.
  TITLE     Structural basis for protein phosphatase 1 regulation and
            specificity
  JOURNAL   FEBS J 280 (2), 596-611 (2013)
   PUBMED   22284538
  REMARK    GeneRIF: Studies suggest that any change in substrate specificity
            of the spinophilin : PP1 holoenzyme complex was probably due to
            direct modification of a PP1 substrate binding surface.
            Review article
REFERENCE   6  (residues 1 to 1090)
  AUTHORS   Ragusa MJ, Dancheck B, Critton DA, Nairn AC, Page R and Peti W.
  TITLE     Spinophilin directs protein phosphatase 1 specificity by blocking
            substrate binding sites
  JOURNAL   Nat Struct Mol Biol 17 (4), 459-464 (2010)
   PUBMED   20305656
REFERENCE   7  (residues 1 to 1090)
  AUTHORS   Suarez-Gestal M, Perez-Pampin E, Calaza M, Gomez-Reino JJ and
            Gonzalez A.
  TITLE     Lack of replication of genetic predictors for the rheumatoid
            arthritis response to anti-TNF treatments: a prospective case-only
            study
  JOURNAL   Arthritis Res Ther 12 (2), R72 (2010)
   PUBMED   20423481
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   8  (residues 1 to 1090)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 1090)
  AUTHORS   Wang X, Zeng W, Kim MS, Allen PB, Greengard P and Muallem S.
  TITLE     Spinophilin/neurabin reciprocally regulate signaling intensity by G
            protein-coupled receptors
  JOURNAL   EMBO J 26 (11), 2768-2776 (2007)
   PUBMED   17464283
REFERENCE   10 (residues 1 to 1090)
  AUTHORS   Nakabayashi,K., Makino,S., Minagawa,S., Smith,A.C., Bamforth,J.S.,
            Stanier,P., Preece,M., Parker-Katiraee,L., Paton,T., Oshimura,M.,
            Mill,P., Yoshikawa,Y., Hui,C.C., Monk,D., Moore,G.E. and
            Scherer,S.W.
  TITLE     Genomic imprinting of PPP1R9A encoding neurabin I in skeletal
            muscle and extra-embryonic tissues
  JOURNAL   J Med Genet 41 (8), 601-608 (2004)
   PUBMED   15286155
  REMARK    GeneRIF: PPP1R9A gene is imprinted, with preferential expression
            from the maternal allele in embryonic skeletal muscle and
            extra-embryonic tissues, but biallelic expression in other
            embryonic tissues.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC150636.1, BC144109.1 and
            AC004022.1.
            
            Summary: This gene is imprinted, and located in a cluster of
            imprinted genes on chromosome 7q12. This gene is transcribed in
            both neuronal and multiple embryonic tissues, and it is maternally
            expressed mainly in embryonic skeletal muscle tissues and
            biallelically expressed in other embryonic tissues. The protein
            encoded by this gene includes a PDZ domain and a sterile alpha
            motif (SAM). It is a regulatory subunit of protein phosphatase I,
            and controls actin cytoskeleton reorganization. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (5) lacks an exon in the middle
            region and four consecutive exons in the 3' coding region, as
            compared to variant 1. The reading frame is not changed, but the
            resulting isoform (5) is shorter and lacks two internal segments,
            as compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC144109.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene :: PMID: 15286155
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1090
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.3"
     Protein         1..1090
                     /product="neurabin-1 isoform 5"
                     /note="neurabin-1; neural tissue-specific F-actin-binding
                     protein I; protein phosphatase 1, regulatory (inhibitor)
                     subunit 9A"
                     /calculated_mol_wt=122292
     Region          1..144
                     /region_name="Actin-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Region          1..66
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Region          87..117
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Region          147..213
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Site            192
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35867; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Region          251..395
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Site            312
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:O35867; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Site            338
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Site            371
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35867; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Region          425..502
                     /region_name="Interaction with protein phosphatase 1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Region          434..497
                     /region_name="PDZ_5"
                     /note="PDZ domain; pfam17817"
                     /db_xref="CDD:436065"
     Site            460
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000250|UniProtKB:O35867; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Region          501..592
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(513..516,518,573..574,577..578)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          627..647
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Region          <658..>897
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          839..865
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Site            840
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Region          888..952
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Site            915
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35867; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Site            928
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35867; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Site            956
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35867; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Site            957
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35867; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Site            966
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35867; propagated from
                     UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     Region          974..1043
                     /region_name="SAM_Neurabin-like"
                     /note="SAM domain of SAM_Neurabin-like subfamily; cd09512"
                     /db_xref="CDD:188911"
     Region          1043..1090
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULJ8.2)"
     CDS             1..1090
                     /gene="PPP1R9A"
                     /gene_synonym="Neurabin-I; NRB1; NRBI"
                     /coded_by="NM_001166163.1:217..3489"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:55607"
                     /db_xref="HGNC:HGNC:14946"
                     /db_xref="MIM:602468"
ORIGIN      
        1 mlktessger ttlrsasphr nayrtefqal kstfdkpksd geqktkegeg sqqsrgrkyg
       61 snvnriknlf mqmgmepnen aaviaktrgk gghsspqrrm kpkeflektd gsvvklessv
      121 serisrfdtm ydgpsyskft etrkmfersv hesgqnnrys pkkekaggse pqdewggsks
      181 nrgstdslds lssrteavsp tvsqlsavfe ntdspsaiis ekaenneysv tghyplnlps
      241 vtvtnldtfg hlkdsnswpp snkrgvdted ahksnatpvp evaskstsla sipgeeiqqs
      301 kepedstsnq qtpdsidkdg peepcaeska mpkseipspq sqlledaean lvgreaakqq
      361 rkelaggdft spdasasscg kevpedsnnf dgshvymhsd ynvyrvrsry nsdwgetgte
      421 qdeeedsden syyqpdmeys eivglpeeee ipanrkikfs sapikvfnty snedydrrnd
      481 evdpvaasae yelekrvekl elfpvelekd edglgisiig mgvgadagle klgifvktvt
      541 eggaaqrdgr iqvndqivev dgislvgvtq nfaatvlrnt kgnvrfvigr ekpgqvseva
      601 qlisqtleqe rrqrelleqh yaqydaddde tgeyatdeee devgpvlpgs dmaievfelp
      661 enedmfspse ldtsklshkf kelqikhavt eaeiqklktk lqaaenekvr welektqlqq
      721 nieenkerml klesywieaq tlchtvnehl ketqsqyqal ekkynkakkl ikdfqqkeld
      781 fikrqeaerk kiedlekahl vevqglqvri rdleaevfrl lkqngtqvnn nnniferrts
      841 lgevskgdtm enldgkqtsc qdglsqdlne avpeterlds kalktraqls vknrrqrpsr
      901 trlydsvsst dgedslerkn ftfnddfsps stssadlsgl gaepktpgls qslalssdei
      961 lddgqspkhs qcqnravqew svqqvshwlm slnleqyvse fsaqnitgeq llqldgnklk
     1021 algmtasqdr avvkkklkem kmslekarka qekmekqrek lrrkeqeqmq rkskktekmt
     1081 sttaegageq
//
LOCUS       NP_001028750             496 aa            linear   PRI 24-DEC-2022
DEFINITION  serine/threonine-protein kinase Sgk3 isoform 1 [Homo sapiens].
ACCESSION   NP_001028750
VERSION     NP_001028750.1
DBSOURCE    REFSEQ: accession NM_001033578.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 496)
  AUTHORS   Cui Y, Liu R, Hong Y, Wang Y, Zhu Y, Wen T, Lu J, Mao S, Wang X,
            Pan J and Luo Y.
  TITLE     MicroRNA-92a-3p Regulates Retinal Angiogenesis by Targeting SGK3 in
            Vascular Endothelial Cells
  JOURNAL   Invest Ophthalmol Vis Sci 63 (11), 19 (2022)
   PUBMED   36269185
  REMARK    GeneRIF: MicroRNA-92a-3p Regulates Retinal Angiogenesis by
            Targeting SGK3 in Vascular Endothelial Cells.
REFERENCE   2  (residues 1 to 496)
  AUTHORS   Xu L, Xiong F, Bai Y, Xiao J, Zhang Y, Chen J and Li Q.
  TITLE     Circ_0043532 regulates miR-182/SGK3 axis to promote granulosa cell
            progression in polycystic ovary syndrome
  JOURNAL   Reprod Biol Endocrinol 19 (1), 167 (2021)
   PUBMED   34740363
  REMARK    GeneRIF: Circ_0043532 regulates miR-182/SGK3 axis to promote
            granulosa cell progression in polycystic ovary syndrome.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 496)
  AUTHORS   Nalairndran G, Hassan Abdul Razack A, Mai CW, Fei-Lei Chung F, Chan
            KK, Hii LW, Lim WM, Chung I and Leong CO.
  TITLE     Phosphoinositide-dependent Kinase-1 (PDPK1) regulates
            serum/glucocorticoid-regulated Kinase 3 (SGK3) for prostate cancer
            cell survival
  JOURNAL   J Cell Mol Med 24 (20), 12188-12198 (2020)
   PUBMED   32926495
  REMARK    GeneRIF: Phosphoinositide-dependent Kinase-1 (PDPK1) regulates
            serum/glucocorticoid-regulated Kinase 3 (SGK3) for prostate cancer
            cell survival.
            Erratum:[J Cell Mol Med. 2020 Dec;24(23):14122-14124. PMID:
            33615700]
REFERENCE   4  (residues 1 to 496)
  AUTHORS   Zheng H, Wu L, Wang X and Chen Q.
  TITLE     Risk of Nasopharyngeal Carcinoma Associated with Single Nucleotide
            Polymorphisms in the MicroRNA Binding Site of SGK3
  JOURNAL   Genet Test Mol Biomarkers 24 (8), 508-519 (2020)
   PUBMED   32644852
  REMARK    GeneRIF: Risk of Nasopharyngeal Carcinoma Associated with Single
            Nucleotide Polymorphisms in the MicroRNA Binding Site of SGK3.
REFERENCE   5  (residues 1 to 496)
  AUTHORS   Zhang XY, Dong XM and Wang FP.
  TITLE     MiR-377-3p inhibits cell metastasis and epithelial-mesenchymal
            transition in cervical carcinoma through targeting SGK3
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (9), 4687-4696 (2020)
   PUBMED   32432732
  REMARK    GeneRIF: MiR-377-3p inhibits cell metastasis and
            epithelial-mesenchymal transition in cervical carcinoma through
            targeting SGK3.
REFERENCE   6  (residues 1 to 496)
  AUTHORS   Lang F and Cohen P.
  TITLE     Regulation and physiological roles of serum- and
            glucocorticoid-induced protein kinase isoforms
  JOURNAL   Sci STKE 2001 (108), re17 (2001)
   PUBMED   11707620
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 496)
  AUTHORS   Xu J, Liu D, Gill G and Songyang Z.
  TITLE     Regulation of cytokine-independent survival kinase (CISK) by the
            Phox homology domain and phosphoinositides
  JOURNAL   J Cell Biol 154 (4), 699-705 (2001)
   PUBMED   11514587
REFERENCE   8  (residues 1 to 496)
  AUTHORS   Fang X, Yu SX, Lu Y, Bast RC Jr, Woodgett JR and Mills GB.
  TITLE     Phosphorylation and inactivation of glycogen synthase kinase 3 by
            protein kinase A
  JOURNAL   Proc Natl Acad Sci U S A 97 (22), 11960-11965 (2000)
   PUBMED   11035810
REFERENCE   9  (residues 1 to 496)
  AUTHORS   Dai F, Yu L, He H, Zhao Y, Yang J, Zhang X and Zhao S.
  TITLE     Cloning and mapping of a novel human serum/glucocorticoid regulated
            kinase-like gene, SGKL, to chromosome 8q12.3-q13.1
  JOURNAL   Genomics 62 (1), 95-97 (1999)
   PUBMED   10585774
REFERENCE   10 (residues 1 to 496)
  AUTHORS   Kobayashi T, Deak M, Morrice N and Cohen P.
  TITLE     Characterization of the structure and regulation of two novel
            isoforms of serum- and glucocorticoid-induced protein kinase
  JOURNAL   Biochem J 344 Pt 1 (Pt 1), 189-197 (1999)
   PUBMED   10548550
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291428.1, CR933673.1,
            BQ777590.1, BU177012.1, CK822899.1 and AI127772.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene is a member of the Ser/Thr protein kinase family
            and encodes a phosphoprotein with a PX (phox homology) domain. The
            protein phosphorylates several target proteins and has a role in
            neutral amino acid transport and activation of potassium and
            chloride channels. Alternate transcriptional splice variants,
            encoding different isoforms, have been characterized. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1 and 3 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.18644.1,
                                           SRR1803612.161950.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000521198.7/ ENSP00000430463.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.1"
     Protein         1..496
                     /product="serine/threonine-protein kinase Sgk3 isoform 1"
                     /EC_number="2.7.11.1"
                     /note="cytokine-independent survival kinase"
                     /calculated_mol_wt=56977
     Region          1..21
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BR1.1)"
     Region          12..120
                     /region_name="PX_CISK"
                     /note="The phosphoinositide binding Phox Homology Domain
                     of Cytokine-Independent Survival Kinase; cd06870"
                     /db_xref="CDD:132780"
     Site            order(22..30,44..48,118,120)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:132780"
     Site            order(50..52,75..76,90)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:132780"
     Region          121..156
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BR1.1)"
     Site            126
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ERE3; propagated from
                     UniProtKB/Swiss-Prot (Q96BR1.1)"
     Site            129
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ERE3; propagated from
                     UniProtKB/Swiss-Prot (Q96BR1.1)"
     Region          165..490
                     /region_name="STKc_SGK3"
                     /note="Catalytic domain of the Protein Serine/Threonine
                     Kinase, Serum- and Glucocorticoid-induced Kinase 3;
                     cd05604"
                     /db_xref="CDD:270755"
     Site            order(168..169,171..174,176,189,191,224,241,243,247,249,
                     286,288,290..291,293,303..304,307,321..326,353,359,362)
                     /site_type="active"
                     /db_xref="CDD:270755"
     Site            order(168..169,171..174,176,189,191,224,241,243,288,
                     290..291,293,303)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270755"
     Site            order(172,247,249,286,288,290,307,321..326,353,359,362)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270755"
     Region          195..205
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BR1.1)"
     Site            303..326
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270755"
     Site            320
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PDPK1.
                     /evidence=ECO:0000269|PubMed:10548550,
                     ECO:0000269|PubMed:16790420; propagated from
                     UniProtKB/Swiss-Prot (Q96BR1.1)"
     Site            461
                     /site_type="other"
                     /note="turn motif phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:270755"
     Site            482..487
                     /site_type="other"
                     /note="hydrophobic motif (HM)"
                     /db_xref="CDD:270755"
     Site            486
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16790420,
                     ECO:0000269|PubMed:16888620; propagated from
                     UniProtKB/Swiss-Prot (Q96BR1.1)"
     CDS             1..496
                     /gene="SGK3"
                     /gene_synonym="CISK; SGK2; SGKL"
                     /coded_by="NM_001033578.3:175..1665"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="GeneID:23678"
                     /db_xref="HGNC:HGNC:10812"
                     /db_xref="MIM:607591"
ORIGIN      
        1 mqrdhtmdyk escpsvsips sdehrekkkr ftvykvlvsv grsewfvfrr yaefdklynt
       61 lkkqfpamal kipakrifgd nfdpdfikqr raglnefiqn lvrypelynh pdvraflqmd
      121 spkhqsdpse dederssqkl hstsqninlg psgnphakpt dfdflkvigk gsfgkvllak
      181 rkldgkfyav kvlqkkivln rkeqkhimae rnvllknvkh pflvglhysf qtteklyfvl
      241 dfvnggelff hlqrersfpe hrarfyaaei asalgylhsi kivyrdlkpe nilldsvghv
      301 vltdfglcke giaisdtttt fcgtpeylap evirkqpydn tvdwwclgav lyemlyglpp
      361 fycrdvaemy dnilhkplsl rpgvsltaws ileellekdr qnrlgakedf leiqnhpffe
      421 slswadlvqk kipppfnpnv agpddirnfd tafteetvpy svcvssdysi vnasvleadd
      481 afvgfsyapp sedlfl
//
LOCUS       NP_001078823             900 aa            linear   PRI 25-DEC-2022
DEFINITION  MORC family CW-type zinc finger protein 4 isoform b [Homo sapiens].
ACCESSION   NP_001078823
VERSION     NP_001078823.1
DBSOURCE    REFSEQ: accession NM_001085354.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 900)
  AUTHORS   Yang Z, Zhuang Q, Hu G and Geng S.
  TITLE     MORC4 is a novel breast cancer oncogene regulated by miR-193b-3p
  JOURNAL   J Cell Biochem 120 (3), 4634-4643 (2019)
   PUBMED   30320920
  REMARK    GeneRIF: These results identified MORC4 as differentially expressed
            in breast cancer cells and tissues and its downregulation by
            miR-193b-3p, as well as its roles in regulating the growth of
            breast cancer cells via regulation of apoptosis.
REFERENCE   2  (residues 1 to 900)
  AUTHORS   Campa D, Pastore M, Capurso G, Hackert T, Di Leo M, Izbicki JR,
            Khaw KT, Gioffreda D, Kupcinskas J, Pasquali C, Macinga P, Kaaks R,
            Stigliano S, Peeters PH, Key TJ, Talar-Wojnarowska R, Vodicka P,
            Valente R, Vashist YK, Salvia R, Papaconstantinou I, Shimizu Y,
            Valsuani C, Zambon CF, Gazouli M, Valantiene I, Niesen W,
            Mohelnikova-Duchonova B, Hara K, Soucek P, Malecka-Panas E,
            Bueno-de-Mesquita HBA, Johnson T, Brenner H, Tavano F, Fogar P, Ito
            H, Sperti C, Butterbach K, Latiano A, Andriulli A, Cavestro GM,
            Busch ORC, Dijk F, Greenhalf W, Matsuo K, Lombardo C, Strobel O,
            Konig AK, Cuk K, Strothmann H, Katzke V, Cantore M, Mambrini A,
            Oliverius M, Pezzilli R, Landi S and Canzian F.
  TITLE     Do pancreatic cancer and chronic pancreatitis share the same
            genetic risk factors? A PANcreatic Disease ReseArch (PANDoRA)
            consortium investigation
  JOURNAL   Int J Cancer 142 (2), 290-296 (2018)
   PUBMED   28913878
  REMARK    GeneRIF: SNP in the MORC4-rs 12837024 is associated with Chronic
            pancreatitis.
REFERENCE   3  (residues 1 to 900)
  AUTHORS   Liu Y, Tempel W, Zhang Q, Liang X, Loppnau P, Qin S and Min J.
  TITLE     Family-wide Characterization of Histone Binding Abilities of Human
            CW Domain-containing Proteins
  JOURNAL   J Biol Chem 291 (17), 9000-9013 (2016)
   PUBMED   26933034
REFERENCE   4  (residues 1 to 900)
  AUTHORS   Noren E, Verma D, Soderkvist P, Weisselberg T, Soderman J, Lotfi K
            and Almer S.
  TITLE     Single Nucleotide Polymorphisms in MORC4, CD14, and TLR4 Are
            Related to Outcome of Allogeneic Stem Cell Transplantation
  JOURNAL   Ann Transplant 21, 56-67 (2016)
   PUBMED   26827181
  REMARK    GeneRIF: Genetic variation in MORC4, CD14, and TLR4 may affect the
            outcome of allogeneic stem cell transplantation.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 900)
  AUTHORS   Giri AK, Midha S, Banerjee P, Agrawal A, Mehdi SJ, Dhingra R, Kaur
            I, G RK, Lakhotia R, Ghosh S, Das K, Mohindra S, Rana S, Bhasin DK,
            Garg PK and Bharadwaj D.
  CONSRTM   INDIPAN and INDICO Consortium
  TITLE     Common Variants in CLDN2 and MORC4 Genes Confer Disease
            Susceptibility in Patients with Chronic Pancreatitis
  JOURNAL   PLoS One 11 (1), e0147345 (2016)
   PUBMED   26820620
  REMARK    GeneRIF: Genetic variants in CLDN2 and MORC4 genes were associated
            with chronic pancreatitis in Indian patients.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 900)
  AUTHORS   Whitcomb DC, LaRusch J, Krasinskas AM, Klei L, Smith JP, Brand RE,
            Neoptolemos JP, Lerch MM, Tector M, Sandhu BS, Guda NM, Orlichenko
            L, Alkaade S, Amann ST, Anderson MA, Baillie J, Banks PA, Conwell
            D, Cote GA, Cotton PB, DiSario J, Farrer LA, Forsmark CE, Johnstone
            M, Gardner TB, Gelrud A, Greenhalf W, Haines JL, Hartman DJ, Hawes
            RA, Lawrence C, Lewis M, Mayerle J, Mayeux R, Melhem NM, Money ME,
            Muniraj T, Papachristou GI, Pericak-Vance MA, Romagnuolo J,
            Schellenberg GD, Sherman S, Simon P, Singh VP, Slivka A, Stolz D,
            Sutton R, Weiss FU, Wilcox CM, Zarnescu NO, Wisniewski SR,
            O'Connell MR, Kienholz ML, Roeder K, Barmada MM, Yadav D and Devlin
            B.
  CONSRTM   Alzheimer's Disease Genetics Consortium
  TITLE     Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter
            risk for alcohol-related and sporadic pancreatitis
  JOURNAL   Nat Genet 44 (12), 1349-1354 (2012)
   PUBMED   23143602
REFERENCE   7  (residues 1 to 900)
  AUTHORS   Wang J, Huo K, Ma L, Tang L, Li D, Huang X, Yuan Y, Li C, Wang W,
            Guan W, Chen H, Jin C, Wei J, Zhang W, Yang Y, Liu Q, Zhou Y, Zhang
            C, Wu Z, Xu W, Zhang Y, Liu T, Yu D, Zhang Y, Chen L, Zhu D, Zhong
            X, Kang L, Gan X, Yu X, Ma Q, Yan J, Zhou L, Liu Z, Zhu Y, Zhou T,
            He F and Yang X.
  TITLE     Toward an understanding of the protein interaction network of the
            human liver
  JOURNAL   Mol Syst Biol 7, 536 (2011)
   PUBMED   21988832
  REMARK    Erratum:[Mol Syst Biol. 2017 Dec 18;13(12 ):965. PMID: 29254952]
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 900)
  AUTHORS   Liggins AP, Cooper CD, Lawrie CH, Brown PJ, Collins GP, Hatton CS,
            Pulford K and Banham AH.
  TITLE     MORC4, a novel member of the MORC family, is highly expressed in a
            subset of diffuse large B-cell lymphomas
  JOURNAL   Br J Haematol 138 (4), 479-486 (2007)
   PUBMED   17608765
REFERENCE   9  (residues 1 to 900)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   10 (residues 1 to 900)
  AUTHORS   Perry J and Zhao Y.
  TITLE     The CW domain, a structural module shared amongst vertebrates,
            vertebrate-infecting parasites and higher plants
  JOURNAL   Trends Biochem Sci 28 (11), 576-580 (2003)
   PUBMED   14607086
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB989767.1, EF125209.1,
            AK300305.1, BQ101064.1 and CA448781.1.
            
            Summary: In human, the four current members of the microrchidia
            (morc) gene family share an N-terminal ATPase-like ATP-binding
            region and a CW four-cysteine zinc-finger motif. The protein
            encoded by this gene also has a nuclear matrix binding domain and a
            two-stranded coiled-coil motif near its C-terminus. This gene is
            widely expressed at low levels in normal tissues and has elevated
            expression in placenta and testis. Alternative splicing results in
            multiple transcript variants encoding distinct proteins. [provided
            by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (2) uses an alternate splice
            junction in the CDS compared to variant 1, that causes a
            frameshift. The resulting isoform (b) is shorter and has a distinct
            C-terminus compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EF125209.1, SRR7346977.1979898.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..900
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.3"
     Protein         1..900
                     /product="MORC family CW-type zinc finger protein 4
                     isoform b"
                     /note="zinc finger, CW type with coiled-coil domain 2;
                     MORC family CW-type zinc finger protein 4; zinc finger
                     CW-type coiled-coil domain protein 2; zinc finger CW-type
                     domain protein 4"
                     /calculated_mol_wt=101746
     Region          39..156
                     /region_name="HATPase"
                     /note="Histidine kinase-like ATPase domain; cl00075"
                     /db_xref="CDD:444683"
     Site            order(56,60,63,86,88,90,92,122..125,138,140,149..150,152)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:340391"
     Site            order(99,125)
                     /site_type="other"
                     /note="ATP-lid"
                     /db_xref="CDD:340391"
     Region          266..400
                     /region_name="Morc6_S5"
                     /note="Morc6 ribosomal protein S5 domain 2-like;
                     pfam17942"
                     /db_xref="CDD:436162"
     Region          425..470
                     /region_name="zf-CW"
                     /note="CW-type Zinc Finger; pfam07496"
                     /db_xref="CDD:429491"
     Region          606..637
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TE76.2)"
     Region          <766..810
                     /region_name="ZapB"
                     /note="Cell division protein ZapB; pfam06005"
                     /db_xref="CDD:428718"
     CDS             1..900
                     /gene="MORC4"
                     /gene_synonym="dJ75H8.2; ZCW4; ZCWCC2"
                     /coded_by="NM_001085354.3:244..2946"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS48146.1"
                     /db_xref="GeneID:79710"
                     /db_xref="HGNC:HGNC:23485"
                     /db_xref="MIM:300970"
ORIGIN      
        1 mllyrgapag pgapgcglar pgggpqafgi rlstmspryl qsnssshtrp fsaiaelldn
       61 avdpdvsart vfidveevkn kscltftddg cgmtphklhr mlsfgftdkv ikksqcpigv
      121 fgngfksgsm rlgkdalvft knggtltvgl lsqtylecvq aqavivpivp fnqqnkkmii
      181 tedslpslea ilnysifnre ndllaqfdai pgkkgtrvli wnirrnkngk seldfdtdqy
      241 dilvsdfdte ekmtggvtse lpeteyslra fcgilymkpr mkiflrqkkv ttqmiaksla
      301 nveydtykpt ftnkqvritf gfscknsnqf gimmyhnnrl iksfekvgcq vkptrgegvg
      361 vigviecnfl kpaynkqdfe ytkeyrltin alaqklnayw kektsqdnfe tstvarpipk
      421 vpdqtwvqcd eclkwrklpg kidpsmlpar wfcyynshpk yrrcsvpeeq eltdedlcls
      481 kakkqeqtve ekkkmpmene nhqvfsnppk iltvqemagl nnktigyegi hspsvlpsgg
      541 eesrspslql kpldssvlqf sskykwilge epvekrrrlq nemttpsldy smpapyrrve
      601 apvaypegen shdksssers tppylfpeyp easkntgqnr evsilypgak dqrqgsllpe
      661 eledqmprlv aeesnrgstt inkeevnkgp fvavvgvakg vrdsgapiql ipfnreelae
      721 rrkaveswnp vpysvasaai paaaigekar gyeeseghnt pklknqrele elkrttekle
      781 rvlaernlfq qkveeleqer nhwqsefkkv qhelviystq eaeglywskk hmgyrqaefq
      841 ilkaelertk eekqelkekl ketethleml qkaqgfgkay aatyprqlsp yfcppslgas
//
LOCUS       NP_003171                386 aa            linear   PRI 25-DEC-2022
DEFINITION  synaptotagmin-5 isoform 1 [Homo sapiens].
ACCESSION   NP_003171
VERSION     NP_003171.2
DBSOURCE    REFSEQ: accession NM_003180.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 386)
  AUTHORS   Qiu X, Ge J, Gao Y, Teng M and Niu L.
  TITLE     Structural analysis of Ca2+-binding pocket of synaptotagmin 5 C2A
            domain
  JOURNAL   Int J Biol Macromol 95, 946-953 (2017)
   PUBMED   27793683
  REMARK    GeneRIF: Ca(2+)-binding pocket of synaptotagmin 5 C2A domain
REFERENCE   2  (residues 1 to 386)
  AUTHORS   Qiu X, Huang K, Liu Y, Zhang X and Gao Y.
  TITLE     Cloning, expression, purification, crystallization and preliminary
            X-ray diffraction crystallographic study of human synaptotagmin 5
            C2A domain
  JOURNAL   Acta Crystallogr Sect F Struct Biol Cryst Commun 67 (Pt 11),
            1375-1377 (2011)
   PUBMED   22102235
  REMARK    GeneRIF: crystals of synaptotagmin 5 belonged to the hexagonal
            space group P6(5), with unit-cell parameters a = b = 93.97, c =
            28.05 A.
REFERENCE   3  (residues 1 to 386)
  AUTHORS   Martins-de-Souza D, Maccarrone G, Wobrock T, Zerr I, Gormanns P,
            Reckow S, Falkai P, Schmitt A and Turck CW.
  TITLE     Proteome analysis of the thalamus and cerebrospinal fluid reveals
            glycolysis dysfunction and potential biomarkers candidates for
            schizophrenia
  JOURNAL   J Psychiatr Res 44 (16), 1176-1189 (2010)
   PUBMED   20471030
  REMARK    GeneRIF: This protein has been found differentially expressed in
            thalami from patients with schizophrenia.
REFERENCE   4  (residues 1 to 386)
  AUTHORS   Sreenath AS, Kumar KR, Reddy GV, Sreedevi B, Praveen D, Monika S,
            Sudha S, Reddy MG and Reddanna P.
  TITLE     Evidence for the association of synaptotagmin with glutathione
            S-transferases: implications for a novel function in human breast
            cancer
  JOURNAL   Clin Biochem 38 (5), 436-443 (2005)
   PUBMED   15820774
  REMARK    GeneRIF: results suggest a novel putative functional role for the
            GST-synaptotagmin V complex in human breast cancers. As this
            association of GST M1-synaptotagmin was not seen in adjacent
            non-cancerous tissues, this can be used as a marker for breast
            cancers.
REFERENCE   5  (residues 1 to 386)
  AUTHORS   Mizutani A, Fukuda M, Ibata K, Shiraishi Y and Mikoshiba K.
  TITLE     SYNCRIP, a cytoplasmic counterpart of heterogeneous nuclear
            ribonucleoprotein R, interacts with ubiquitous synaptotagmin
            isoforms
  JOURNAL   J Biol Chem 275 (13), 9823-9831 (2000)
   PUBMED   10734137
REFERENCE   6  (residues 1 to 386)
  AUTHORS   Craxton M and Goedert M.
  TITLE     Alternative splicing of synaptotagmins involving transmembrane exon
            skipping
  JOURNAL   FEBS Lett 460 (3), 417-422 (1999)
   PUBMED   10556508
REFERENCE   7  (residues 1 to 386)
  AUTHORS   Fukuda M, Kanno E and Mikoshiba K.
  TITLE     Conserved N-terminal cysteine motif is essential for homo- and
            heterodimer formation of synaptotagmins III, V, VI, and X
  JOURNAL   J Biol Chem 274 (44), 31421-31427 (1999)
   PUBMED   10531343
REFERENCE   8  (residues 1 to 386)
  AUTHORS   Craxton M, Olsen A and Goedert M.
  TITLE     Human synaptotagmin V (SYT5): sequence, genomic structure, and
            chromosomal location
  JOURNAL   Genomics 42 (1), 165-169 (1997)
   PUBMED   9177789
REFERENCE   9  (residues 1 to 386)
  AUTHORS   Hudson AW and Birnbaum MJ.
  TITLE     Identification of a nonneuronal isoform of synaptotagmin
  JOURNAL   Proc Natl Acad Sci U S A 92 (13), 5895-5899 (1995)
   PUBMED   7597049
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA529870.1, BC046157.1, BQ417474.1 and AC010327.8.
            On Apr 19, 2006 this sequence version replaced NP_003171.1.
            
            Summary: Synaptotagmins, such as SYT5, are a family of type III
            membrane proteins characterized by cytoplasmic repeats related to
            protein kinase C (see MIM 176960) regulatory (C2) domains, which
            are thought to bind calcium. Synaptotagmins may act both as
            negative regulators of vesicle fusion, allowing fusion in the
            presence of calcium, and as calcium receptors or sensor molecules
            (summary by Hudson and Birnbaum, 1995 [PubMed 7597049]).[supplied
            by OMIM, Feb 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1100744.1, BC046157.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354308.8/ ENSP00000346265.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..386
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..386
                     /product="synaptotagmin-5 isoform 1"
                     /note="sytV; synaptotagmin V"
                     /calculated_mol_wt=42769
     Region          1..23
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00445.2)"
     Region          <21..76
                     /region_name="Syt1_2_N"
                     /note="N-terminal domain of synaptotagmin-1 and -2;
                     cd21342"
                     /db_xref="CDD:409247"
     Site            25..45
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O00445.2)"
     Region          109..231
                     /region_name="C2A_Synaptotagmin-1-5-6-9-10"
                     /note="C2A domain first repeat present in Synaptotagmins
                     1, 5, 6, 9, and 10; cd08385"
                     /db_xref="CDD:176031"
     Site            order(139,145,197,199,205)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176031"
     Region          240..374
                     /region_name="C2"
                     /note="C2 domain; cl14603"
                     /db_xref="CDD:449331"
     CDS             1..386
                     /gene="SYT5"
                     /coded_by="NM_003180.3:219..1379"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS12919.1"
                     /db_xref="GeneID:6861"
                     /db_xref="HGNC:HGNC:11513"
                     /db_xref="MIM:600782"
ORIGIN      
        1 mfpepptpgp pspdtppdss rishgpvppw alativlvsg llifsccfcl yrkscrrrtg
       61 kksqaqaqvh lqevkglgqs yidkvqpeve elepapsgpg qqvadkhelg rlqysldydf
      121 qsgqllvgil qamglaaldl ggssdpyvrv yllpdkrrry etkvhrqtln phfgetfafk
      181 vpyvelggrv lvmavydfdr fsrndaigev rvpmssvdlg rpvqawrelq aapreeqekl
      241 gdicfslryv ptagkltviv leaknlkkmd vgglsdpyvk vhllqggkkv rkkkttikkn
      301 tlnpyyneaf sfevpcdqvq kvqveltvld ydklgkneai grvavgaaag gaglrhwadm
      361 lanprrpiaq whslrppdrv rllpap
//
LOCUS       NP_055455               1199 aa            linear   PRI 25-DEC-2022
DEFINITION  tubulin monoglutamylase TTLL4 [Homo sapiens].
ACCESSION   NP_055455
VERSION     NP_055455.3
DBSOURCE    REFSEQ: accession NM_014640.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1199)
  AUTHORS   Arnold J, Schattschneider J, Blechner C, Krisp C, Schluter H,
            Schweizer M, Nalaskowski M, Oliveira-Ferrer L and Windhorst S.
  TITLE     Tubulin Tyrosine Ligase Like 4 (TTLL4) overexpression in breast
            cancer cells is associated with brain metastasis and alters exosome
            biogenesis
  JOURNAL   J Exp Clin Cancer Res 39 (1), 205 (2020)
   PUBMED   32998758
  REMARK    GeneRIF: Tubulin Tyrosine Ligase Like 4 (TTLL4) overexpression in
            breast cancer cells is associated with brain metastasis and alters
            exosome biogenesis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1199)
  AUTHORS   Mahalingan KK, Keith Keenan E, Strickland M, Li Y, Liu Y, Ball HL,
            Tanner ME, Tjandra N and Roll-Mecak A.
  TITLE     Author Correction: Structural basis for polyglutamate chain
            initiation and elongation by TTLL family enzymes
  JOURNAL   Nat Struct Mol Biol 27 (9), 870 (2020)
   PUBMED   32792670
  REMARK    Correction to:[Nat Struct Mol Biol. 2020 Sep;27(9):802-813. PMID:
            32747782]
REFERENCE   3  (residues 1 to 1199)
  AUTHORS   He M, Xu M, Zhang B, Liang J, Chen P, Lee JY, Johnson TA, Li H,
            Yang X, Dai J, Liang L, Gui L, Qi Q, Huang J, Li Y, Adair LS, Aung
            T, Cai Q, Cheng CY, Cho MC, Cho YS, Chu M, Cui B, Gao YT, Go MJ, Gu
            D, Gu W, Guo H, Hao Y, Hong J, Hu Z, Hu Y, Huang J, Hwang JY, Ikram
            MK, Jin G, Kang DH, Khor CC, Kim BJ, Kim HT, Kubo M, Lee J, Lee J,
            Lee NR, Li R, Li J, Liu J, Longe J, Lu W, Lu X, Miao X, Okada Y,
            Ong RT, Qiu G, Seielstad M, Sim X, Song H, Takeuchi F, Tanaka T,
            Taylor PR, Wang L, Wang W, Wang Y, Wu C, Wu Y, Xiang YB, Yamamoto
            K, Yang H, Liao M, Yokota M, Young T, Zhang X, Kato N, Wang QK,
            Zheng W, Hu FB, Lin D, Shen H, Teo YY, Mo Z, Wong TY, Lin X, Mohlke
            KL, Ning G, Tsunoda T, Han BG, Shu XO, Tai ES, Wu T and Qi L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   4  (residues 1 to 1199)
  AUTHORS   Ahmeti KB, Ajroud-Driss S, Al-Chalabi A, Andersen PM, Armstrong J,
            Birve A, Blauw HM, Brown RH, Bruijn L, Chen W, Chio A, Comeau MC,
            Cronin S, Diekstra FP, Soraya Gkazi A, Glass JD, Grab JD, Groen EJ,
            Haines JL, Hardiman O, Heller S, Huang J, Hung WY, Jaworski JM,
            Jones A, Khan H, Landers JE, Langefeld CD, Leigh PN, Marion MC,
            McLaughlin RL, Meininger V, Melki J, Miller JW, Mora G,
            Pericak-Vance MA, Rampersaud E, Robberecht W, Russell LP, Salachas
            F, Saris CG, Shatunov A, Shaw CE, Siddique N, Siddique T, Smith BN,
            Sufit R, Topp S, Traynor BJ, Vance C, van Damme P, van den Berg LH,
            van Es MA, van Vught PW, Veldink JH, Yang Y and Zheng JG.
  CONSRTM   ITALSGEN consortium; ALSGEN Consortium
  TITLE     Age of onset of amyotrophic lateral sclerosis is modulated by a
            locus on 1p34.1
  JOURNAL   Neurobiol Aging 34 (1), 357 (2013)
   PUBMED   22959728
REFERENCE   5  (residues 1 to 1199)
  AUTHORS   Rogowski K, van Dijk J, Magiera MM, Bosc C, Deloulme JC, Bosson A,
            Peris L, Gold ND, Lacroix B, Bosch Grau M, Bec N, Larroque C,
            Desagher S, Holzer M, Andrieux A, Moutin MJ and Janke C.
  TITLE     A family of protein-deglutamylating enzymes associated with
            neurodegeneration
  JOURNAL   Cell 143 (4), 564-578 (2010)
   PUBMED   21074048
REFERENCE   6  (residues 1 to 1199)
  AUTHORS   Kashiwaya K, Nakagawa H, Hosokawa M, Mochizuki Y, Ueda K, Piao L,
            Chung S, Hamamoto R, Eguchi H, Ohigashi H, Ishikawa O, Janke C,
            Shinomura Y and Nakamura Y.
  TITLE     Involvement of the tubulin tyrosine ligase-like family member 4
            polyglutamylase in PELP1 polyglutamylation and chromatin remodeling
            in pancreatic cancer cells
  JOURNAL   Cancer Res 70 (10), 4024-4033 (2010)
   PUBMED   20442285
REFERENCE   7  (residues 1 to 1199)
  AUTHORS   van Dijk J, Miro J, Strub JM, Lacroix B, van Dorsselaer A, Edde B
            and Janke C.
  TITLE     Polyglutamylation is a post-translational modification with a broad
            range of substrates
  JOURNAL   J Biol Chem 283 (7), 3915-3922 (2008)
   PUBMED   18045879
REFERENCE   8  (residues 1 to 1199)
  AUTHORS   Trichet V, Ruault M, Roizes G and De Sario A.
  TITLE     Characterization of the human tubulin tyrosine ligase-like 1 gene
            (TTLL1) mapping to 22q13.1
  JOURNAL   Gene 257 (1), 109-117 (2000)
   PUBMED   11054573
  REMARK    GeneRIF: Characterization of another human tubulin tyrosine
            ligase-like gene family member
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009974.10, DB097392.1 and AK291770.1.
            On Dec 12, 2008 this sequence version replaced NP_055455.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The extent of this RefSeq
            transcript is supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: D79995.1, SRR1803611.163390.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392102.6/ ENSP00000375951.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1199
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     Protein         1..1199
                     /product="tubulin monoglutamylase TTLL4"
                     /note="tubulin polyglutamylase TTLL4; tubulin--tyrosine
                     ligase-like protein 4; tubulin tyrosine ligase-like
                     family, member 4; protein monoglutamylase TTLL4"
                     /calculated_mol_wt=133248
     Region          1..43
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14679.2)"
     Region          472..517
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14679.2)"
     Region          525..544
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14679.2)"
     Region          654..946
                     /region_name="TTL"
                     /note="Tubulin-tyrosine ligase family; pfam03133"
                     /db_xref="CDD:397308"
     Site            691
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q14679.2)"
     Site            727
                     /site_type="other"
                     /note="Essential for specifying initiation versus
                     elongation step of the polyglutamylase activity.
                     /evidence=ECO:0000250|UniProtKB:A4Q9E8; propagated from
                     UniProtKB/Swiss-Prot (Q14679.2)"
     Region          918..1029
                     /region_name="c-MTBD region.
                     /evidence=ECO:0000269|PubMed:25959773"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14679.2)"
     Region          1130..1199
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14679.2)"
     CDS             1..1199
                     /gene="TTLL4"
                     /coded_by="NM_014640.5:381..3980"
                     /db_xref="CCDS:CCDS2422.1"
                     /db_xref="GeneID:9654"
                     /db_xref="HGNC:HGNC:28976"
                     /db_xref="MIM:618738"
ORIGIN      
        1 masagtqhys iglrqknsfk qsgpsgtvpa tppekpsegr vwpqahqqvk piwklekkqv
       61 etlsaglgpg llgvppqpay ffcpstlcss gttaviaghs sscylhslpd lfnstllyrr
      121 ssyrqkpyqq lesfclrssp sekspfslpq kslpvsltan katssmvfsm aqpmassste
      181 pylclaaage npsgkslasa isgkipspls ssykpmlnnn sfmwpnstpv pllqttqglk
      241 pvsppkiqpv swhhsggtgd capqpvdhkv pksigtvpad asahialsta sshdtsttsv
      301 asswynrnnl amraeplsca lddssdsqdp tkeirfteav rkltargfek mprqgcqleq
      361 ssflnpsfqw nvlnrsrrwk ppavnqqfpq edagsvrrvl pgasdtlgld ntvfctkris
      421 ihllashasg lnhnpacesv idssafgegk apgppfpqtl gianvatrls siqlgqseke
      481 rpeearelds sdrdissatd lqpdqaeted teeelvdgle dccsrdenee eegdsecssl
      541 savspsesva misrscmeil tkplsnhekv vrpaliyslf pnvpptiyfg trderveklp
      601 weqrkllrwk mstvtpnivk qtigrshfki skrnddwlgc wghhmkspsf rsirehqkln
      661 hfpgsfqigr kdrlwrnlsr mqsrfgkkef sffpqsfilp qdakllrkaw esssrqkwiv
      721 kppasargig iqvihkwsql pkrrpllvqr ylhkpylisg skfdlriyvy vtsydplriy
      781 lfsdglvrfa sckyspsmks lgnkfmhltn ysvnkknaey qanademacq ghkwalkalw
      841 nylsqkgvns daiwekikdv vvktiissep yvtsllkmyv rrpyschelf gfdimldenl
      901 kpwvlevnis pslhssspld isikgqmird llnlagfvlp naediissps scsssttslp
      961 tspgdkcrma pehvtaqkmk kayyltqkip dqdfyasvld vltpddvril vemedefsrr
     1021 gqferifpsh issrylrffe qpryfniltt qweqkyhgnk lkgvdllrsw cykgfhmgvv
     1081 sdsapvwslp tslltiskdd vilnafskse tsklgkqssc evslllsedg ttpkskktqa
     1141 glspypqkps sskdsedtsk epslstqtlp vikcsgqtsr lsasstfqsi sdsllavsp
//
LOCUS       NP_001119601             255 aa            linear   PRI 26-DEC-2022
DEFINITION  DNA replication complex GINS protein PSF3 isoform a [Homo sapiens].
ACCESSION   NP_001119601
VERSION     NP_001119601.1
DBSOURCE    REFSEQ: accession NM_001126129.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 255)
  AUTHORS   Zhang K, Zhou J, Wu T, Tian Q, Liu T, Wang W, Zhong H, Chen Z, Xiao
            X and Wu G.
  TITLE     Combined analysis of expression, prognosis and immune infiltration
            of GINS family genes in human sarcoma
  JOURNAL   Aging (Albany NY) 14 (14), 5895-5907 (2022)
   PUBMED   35896011
  REMARK    GeneRIF: Combined analysis of expression, prognosis and immune
            infiltration of GINS family genes in human sarcoma.
REFERENCE   2  (residues 1 to 255)
  AUTHORS   McQuaid ME, Ahmed K, Tran S, Rousseau J, Shaheen R, Kernohan KD,
            Yuki KE, Grover P, Dreseris ES, Ahmed S, Dupuis L, Stimec J, Shago
            M, Al-Hassnan ZN, Tremblay R, Maass PG, Wilson MD, Grunebaum E,
            Boycott KM, Boisvert FM, Maddirevula S, Faqeih EA, Almanjomi F,
            Khan ZU, Alkuraya FS, Campeau PM, Kannu P, Campos EI and Wurtele H.
  TITLE     Hypomorphic GINS3 variants alter DNA replication and cause
            Meier-Gorlin syndrome
  JOURNAL   JCI Insight 7 (10), e155648 (2022)
   PUBMED   35603789
  REMARK    GeneRIF: Hypomorphic GINS3 variants alter DNA replication and cause
            Meier-Gorlin syndrome.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 255)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 255)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 255)
  AUTHORS   Lian YF, Li SS, Huang YL, Wei H, Chen DM, Wang JL and Huang YH.
  TITLE     Up-regulated and interrelated expressions of GINS subunits predict
            poor prognosis in hepatocellular carcinoma
  JOURNAL   Biosci Rep 38 (6) (2018)
   PUBMED   30413605
  REMARK    GeneRIF: mRNA expressions of all GINS subunits were significantly
            up-regulated in hepatocellular carcinoma tumor than in non-tumor
            liver tissues.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 255)
  AUTHORS   Kamada K, Kubota Y, Arata T, Shindo Y and Hanaoka F.
  TITLE     Structure of the human GINS complex and its assembly and functional
            interface in replication initiation
  JOURNAL   Nat Struct Mol Biol 14 (5), 388-396 (2007)
   PUBMED   17417653
REFERENCE   7  (residues 1 to 255)
  AUTHORS   De Falco M, Ferrari E, De Felice M, Rossi M, Hubscher U and Pisani
            FM.
  TITLE     The human GINS complex binds to and specifically stimulates human
            DNA polymerase alpha-primase
  JOURNAL   EMBO Rep 8 (1), 99-103 (2007)
   PUBMED   17170760
REFERENCE   8  (residues 1 to 255)
  AUTHORS   Yabuuchi H, Yamada Y, Uchida T, Sunathvanichkul T, Nakagawa T and
            Masukata H.
  TITLE     Ordered assembly of Sld3, GINS and Cdc45 is distinctly regulated by
            DDK and CDK for activation of replication origins
  JOURNAL   EMBO J 25 (19), 4663-4674 (2006)
   PUBMED   16990792
  REMARK    GeneRIF: This paper describes work done in Schizosaccharomyces
            pombe.
REFERENCE   9  (residues 1 to 255)
  AUTHORS   Hayashi R, Arauchi T, Tategu M, Goto Y and Yoshida K.
  TITLE     A combined computational and experimental study on the
            structure-regulation relationships of putative mammalian DNA
            replication initiator GINS
  JOURNAL   Genomics Proteomics Bioinformatics 4 (3), 156-164 (2006)
   PUBMED   17127213
  REMARK    GeneRIF: expression of mammalian GINS is regulated by
            17beta-Estradiol-stimulated estrogen receptor alpha, and PSF3 acts
            as a gene responsive to transcription factor E2F1
REFERENCE   10 (residues 1 to 255)
  AUTHORS   Takayama Y, Kamimura Y, Okawa M, Muramatsu S, Sugino A and Araki H.
  TITLE     GINS, a novel multiprotein complex required for chromosomal DNA
            replication in budding yeast
  JOURNAL   Genes Dev 17 (9), 1153-1165 (2003)
   PUBMED   12730134
  REMARK    GeneRIF: This paper describes work done in Saccharomyces
            cerevisiae.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA550725.1, BC005879.1,
            BP374281.1 and AC009118.11.
            
            Summary: This gene encodes a protein subunit of the GINS
            heterotetrameric complex, which is essential for the initiation of
            DNA replication and replisome progression in eukaryotes.
            Alternatively spliced transcript variants encoding distinct
            isoforms have been described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.55615.1,
                                           SRR1660809.176318.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..255
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q21"
     Protein         1..255
                     /product="DNA replication complex GINS protein PSF3
                     isoform a"
                     /note="DNA replication complex GINS protein PSF3; GINS
                     complex subunit 3 (Psf3 homolog)"
                     /calculated_mol_wt=28644
     Region          19..128
                     /region_name="GINS_B_Psf3"
                     /note="beta-strand (B) domain of GINS complex protein
                     Psf3; cd21693"
                     /db_xref="CDD:412029"
     Site            order(19..20,22,24..26,28..29,40..43,110..111,114..115,
                     122)
                     /site_type="other"
                     /note="tetramer interface [polypeptide binding]"
                     /db_xref="CDD:412029"
     Region          122..231
                     /region_name="GINS_A_psf3"
                     /note="Alpha-helical domain of GINS complex protein Psf3
                     (partner of Sld5 3); cd11713"
                     /db_xref="CDD:212551"
     Site            order(157,160,181,185,189..190,207,210,212,214..224)
                     /site_type="other"
                     /note="tetramer interface [polypeptide binding]"
                     /db_xref="CDD:212551"
     CDS             1..255
                     /gene="GINS3"
                     /gene_synonym="PSF3"
                     /coded_by="NM_001126129.2:132..899"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS45498.1"
                     /db_xref="GeneID:64785"
                     /db_xref="HGNC:HGNC:25851"
                     /db_xref="MIM:610610"
ORIGIN      
        1 mseayfrves galgpeenfl slddilmshe klpvrtetam prlgaffler sagaetdnav
       61 pqgfallprl ecsgviwlta altsqapeil ppqppmwlvl qgsklelplw lakglfdnkr
      121 rilsvelpki yqegwrtvfs adpnvvdlhk mgphfygfgs qllhfdspen adisqsllqt
      181 figrfrrimd ssqnaynedt salvarldem erglfqtgqk glndfqcwek gqasqitasn
      241 lvqnykkrkf tdmed
//
LOCUS       NP_001310996             300 aa            linear   PRI 26-DEC-2022
DEFINITION  glycerophosphodiester phosphodiesterase 1 isoform 3 [Homo sapiens].
ACCESSION   NP_001310996
VERSION     NP_001310996.1
DBSOURCE    REFSEQ: accession NM_001324067.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 300)
  AUTHORS   Lacedonia D, Scioscia G, Soccio P, Conese M, Catucci L, Palladino
            GP, Simone F, Quarato CMI, Di Gioia S, Rana R, Sollitto F and
            Foschino-Barbaro MP.
  TITLE     Downregulation of exosomal let-7d and miR-16 in idiopathic
            pulmonary fibrosis
  JOURNAL   BMC Pulm Med 21 (1), 188 (2021)
   PUBMED   34088304
  REMARK    GeneRIF: Downregulation of exosomal let-7d and miR-16 in idiopathic
            pulmonary fibrosis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 300)
  AUTHORS   Zheng Y, Li L, Gao Q, Niu B and Wang H.
  TITLE     Solanine inhibits proliferation and promotes apoptosis of the human
            leukemia cells by targeting the miR-16/Bcl-2 axis
  JOURNAL   J BUON 25 (3), 1614-1618 (2020)
   PUBMED   32862612
  REMARK    GeneRIF: Solanine inhibits proliferation and promotes apoptosis of
            the human leukemia cells by targeting the miR-16/Bcl-2 axis.
REFERENCE   3  (residues 1 to 300)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 300)
  AUTHORS   Xie F, Xie G and Sun Q.
  TITLE     Long Noncoding RNA DLX6-AS1 Promotes the Progression in Cervical
            Cancer by Targeting miR-16-5p/ARPP19 Axis
  JOURNAL   Cancer Biother Radiopharm 35 (2), 129-136 (2020)
   PUBMED   32077747
  REMARK    GeneRIF: Long Noncoding RNA DLX6-AS1 Promotes the Progression in
            Cervical Cancer by Targeting miR-16-5p/ARPP19 Axis.
REFERENCE   5  (residues 1 to 300)
  AUTHORS   Jin W, Chen F, Wang K, Song Y, Fei X and Wu B.
  TITLE     miR-15a/miR-16 cluster inhibits invasion of prostate cancer cells
            by suppressing TGF-beta signaling pathway
  JOURNAL   Biomed Pharmacother 104, 637-644 (2018)
   PUBMED   29803177
  REMARK    GeneRIF: MiR15a/16 inhibited the components of TGF-beta signaling
            pathways.
REFERENCE   6  (residues 1 to 300)
  AUTHORS   Ma J, Dempsey AA, Stamatiou D, Marshall KW and Liew CC.
  TITLE     Identifying leukocyte gene expression patterns associated with
            plasma lipid levels in human subjects
  JOURNAL   Atherosclerosis 191 (1), 63-72 (2007)
   PUBMED   16806233
REFERENCE   7  (residues 1 to 300)
  AUTHORS   Bachmann AS, Duennebier FF and Mocz G.
  TITLE     Genomic organization, characterization, and molecular 3D model of
            GDE1, a novel mammalian glycerophosphoinositol phosphodiesterase
  JOURNAL   Gene 371 (1), 144-153 (2006)
   PUBMED   16472945
REFERENCE   8  (residues 1 to 300)
  AUTHORS   Zheng B, Berrie CP, Corda D and Farquhar MG.
  TITLE     GDE1/MIR16 is a glycerophosphoinositol phosphodiesterase regulated
            by stimulation of G protein-coupled receptors
  JOURNAL   Proc Natl Acad Sci U S A 100 (4), 1745-1750 (2003)
   PUBMED   12576545
  REMARK    GeneRIF: regulation by by stimulation of G protein-coupled
            receptors
REFERENCE   9  (residues 1 to 300)
  AUTHORS   Zheng B, Chen D and Farquhar MG.
  TITLE     MIR16, a putative membrane glycerophosphodiester phosphodiesterase,
            interacts with RGS16
  JOURNAL   Proc Natl Acad Sci U S A 97 (8), 3999-4004 (2000)
   PUBMED   10760272
REFERENCE   10 (residues 1 to 300)
  AUTHORS   Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J,
            Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y,
            Xu RX, Kang HL, Mitchell S, Eichler EE, Harris PC, Venter JC and
            Adams MD.
  TITLE     Genome duplications and other features in 12 Mb of DNA sequence
            from human chromosome 16p and 16q
  JOURNAL   Genomics 60 (3), 295-308 (1999)
   PUBMED   10493829
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012621.8, AC003108.1 and AC130456.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138525.76323.1,
                                           SRR1803614.31733.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..300
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3"
     Protein         1..300
                     /product="glycerophosphodiester phosphodiesterase 1
                     isoform 3"
                     /EC_number="3.1.4.44"
                     /note="RGS16-interacting membrane protein; membrane
                     interacting protein of RGS16; lysophospholipase D GDE1;
                     glycerophosphoinositol glycerophosphodiesterase GDE1"
                     /calculated_mol_wt=33948
     Region          68..292
                     /region_name="GDPD_GDE1"
                     /note="Glycerophosphodiester phosphodiesterase domain of
                     mammalian glycerophosphodiester phosphodiesterase GDE1 and
                     similar proteins; cd08573"
                     /db_xref="CDD:176515"
     Site            order(70,97,99,112,174,268)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:176515"
     Site            order(70,112)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:176515"
     Site            order(97,99,174)
                     /site_type="other"
                     /note="putative metal binding site [ion binding]"
                     /db_xref="CDD:176515"
     CDS             1..300
                     /gene="GDE1"
                     /gene_synonym="363E6.2; MIR16"
                     /coded_by="NM_001324067.2:135..1037"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:51573"
                     /db_xref="HGNC:HGNC:29644"
                     /db_xref="MIM:605943"
ORIGIN      
        1 mwlwedqggl lgpfsflllv lllvtrspvn aclltgslfv llrvfsfepv pscralqvlk
       61 prdrisaiah rggshdapen tlaairqaak ngatgveldi eftsdgipvl mhdntvdrtt
      121 dgtgrlcdlt feqirklnpa anhrlrndfp dekiptlrea vaeclnhnlt iffdvkghah
      181 kmrqtdrdvi talthrpwsl shtgdgkpry dtfwkhfifv mmdilldwsm hnilwylcgi
      241 saflmqkdfv spaylkkwsa kgiqvvgwtv ntfdeksyye shlgssyitd smvedcephf
//
LOCUS       NP_001287677             246 aa            linear   PRI 26-DEC-2022
DEFINITION  transmembrane protein 53 isoform 4 [Homo sapiens].
ACCESSION   NP_001287677 XP_005271252
VERSION     NP_001287677.1
DBSOURCE    REFSEQ: accession NM_001300748.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 246)
  AUTHORS   Guo L, Iida A, Bhavani GS, Gowrishankar K, Wang Z, Xue JY, Wang J,
            Miyake N, Matsumoto N, Hasegawa T, Iizuka Y, Matsuda M, Nakashima
            T, Takechi M, Iseki S, Yambe S, Nishimura G, Koseki H, Shukunami C,
            Girisha KM and Ikegawa S.
  TITLE     Deficiency of TMEM53 causes a previously unknown sclerosing bone
            disorder by dysregulation of BMP-SMAD signaling
  JOURNAL   Nat Commun 12 (1), 2046 (2021)
   PUBMED   33824347
  REMARK    GeneRIF: Deficiency of TMEM53 causes a previously unknown
            sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 246)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY108001.1, AA490195.1, BC064520.1 and BM675039.1.
            On Jul 11, 2014 this sequence version replaced XP_005271252.1.
            
            Transcript Variant: This variant (4) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1. The
            encoded isoform (4) is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.355435.1,
                                           SRR1163657.399564.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153307, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..246
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     Protein         1..246
                     /product="transmembrane protein 53 isoform 4"
                     /note="novel DUF829 domain-containing protein; nuclear
                     envelope transmembrane protein 4"
                     /calculated_mol_wt=27997
     Region          36..240
                     /region_name="DUF829"
                     /note="Eukaryotic protein of unknown function (DUF829);
                     pfam05705"
                     /db_xref="CDD:428595"
     CDS             1..246
                     /gene="TMEM53"
                     /gene_synonym="CTDI; NET4"
                     /coded_by="NM_001300748.2:91..831"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:79639"
                     /db_xref="HGNC:HGNC:26186"
                     /db_xref="MIM:619722"
ORIGIN      
        1 masaeldyti eipdqpcwsq knspspggke aetrqpvvil lgwggckdkn lakysaiyhk
       61 rllellfdye iekepllfhv fsnggvmlyr yvlellqtrr fcrlrvvgti fdsapgdsnl
      121 vgalralaai lerraamlrl lllvafalvv vlfhvllapi talfhthfyd rlqdagsrwp
      181 elylysrade vvlardierm vearlarrvl arsvdfvssa hvshlrdypt yytslcvdfm
      241 rncvrc
//
LOCUS       NP_001278892             204 aa            linear   PRI 27-DEC-2022
DEFINITION  death-associated protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001278892
VERSION     NP_001278892.1
DBSOURCE    REFSEQ: accession NM_001291963.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 204)
  AUTHORS   Sui L, Ye L, Sanders AJ, Yang Y, Hao C, Hargest R and Jiang WG.
  TITLE     Expression of Death Associated Proteins DAP1 and DAP3 in Human
            Pancreatic Cancer
  JOURNAL   Anticancer Res 41 (5), 2357-2362 (2021)
   PUBMED   33952460
  REMARK    GeneRIF: Expression of Death Associated Proteins DAP1 and DAP3 in
            Human Pancreatic Cancer.
REFERENCE   2  (residues 1 to 204)
  AUTHORS   Wazir U, Sanders AJ, Wazir A, Baig RM, Jiang WG, Ster IC, Sharma AK
            and Mokbel K.
  TITLE     Effect of the knockdown of death-associated protein 1 expression on
            cell adhesion, growth and migration in breast cancer cells
  JOURNAL   Oncol Rep 33 (3), 1450-1458 (2015)
   PUBMED   25530065
  REMARK    GeneRIF: DAP1 may have an important role in cell adhesion,
            migration and growth in the context of breast cancer and has
            significant associations with the apoptosis pathway.
REFERENCE   3  (residues 1 to 204)
  AUTHORS   Jia Y, Ye L, Ji K, Toms AM, Davies ML, Ruge F, Ji J, Hargest R and
            Jiang WG.
  TITLE     Death associated protein 1 is correlated with the clinical outcome
            of patients with colorectal cancer and has a role in the regulation
            of cell death
  JOURNAL   Oncol Rep 31 (1), 175-182 (2014)
   PUBMED   24270644
  REMARK    GeneRIF: DAP1 was found to be correlated with disease progression
            and long-term survival of the colorectal patients. DAP1 is also a
            pivotal regulator of the growth and apoptosis and cellular response
            to chemotherapy agents.
REFERENCE   4  (residues 1 to 204)
  AUTHORS   Yu B, Zheng Y, Alexander D, Manolio TA, Alonso A, Nettleton JA and
            Boerwinkle E.
  TITLE     Genome-wide association study of a heart failure related
            metabolomic profile among African Americans in the Atherosclerosis
            Risk in Communities (ARIC) study
  JOURNAL   Genet Epidemiol 37 (8), 840-845 (2013)
   PUBMED   23934736
REFERENCE   5  (residues 1 to 204)
  AUTHORS   Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee
            JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K,
            Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z,
            Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN,
            Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A,
            Boucher G, Brand S, Buning C, Cohain A, Cichon S, D'Amato M, De
            Jong D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson
            LR, Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas
            J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH,
            Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees
            CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W,
            Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M,
            Rotter JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber
            S, Simms LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M,
            Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier
            RJ, Zeissig S, Zhang B, Zhang CK, Zhao H, Silverberg MS, Annese V,
            Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD,
            Schadt EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC and
            Cho JH.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
REFERENCE   6  (residues 1 to 204)
  AUTHORS   Zougman A and Wisniewski JR.
  TITLE     Beyond linker histones and high mobility group proteins: global
            profiling of perchloric acid soluble proteins
  JOURNAL   J Proteome Res 5 (4), 925-934 (2006)
   PUBMED   16602700
REFERENCE   7  (residues 1 to 204)
  AUTHORS   Levy-Strumpf N and Kimchi A.
  TITLE     Death associated proteins (DAPs): from gene identification to the
            analysis of their apoptotic and tumor suppressive functions
  JOURNAL   Oncogene 17 (25), 3331-3340 (1998)
   PUBMED   9916995
  REMARK    Review article
REFERENCE   8  (residues 1 to 204)
  AUTHORS   Feinstein E, Druck T, Kastury K, Berissi H, Goodart SA, Overhauser
            J, Kimchi A and Huebner K.
  TITLE     Assignment of DAP1 and DAPK--genes that positively mediate
            programmed cell death triggered by IFN-gamma--to chromosome regions
            5p12.2 and 9q34.1, respectively
  JOURNAL   Genomics 29 (1), 305-307 (1995)
   PUBMED   8530096
REFERENCE   9  (residues 1 to 204)
  AUTHORS   Deiss LP, Feinstein E, Berissi H, Cohen O and Kimchi A.
  TITLE     Identification of a novel serine/threonine kinase and a novel 15-kD
            protein as potential mediators of the gamma interferon-induced cell
            death
  JOURNAL   Genes Dev 9 (1), 15-30 (1995)
   PUBMED   7828849
REFERENCE   10 (residues 1 to 204)
  AUTHORS   Belokrylov,G.A. and Zhitnukhin,Iu.L.
  TITLE     [Effect of antibodies to rat and human cerebral cortex and white
            matter on heterologous T- and B-cells]
  JOURNAL   Zh Mikrobiol Epidemiol Immunobiol (9), 66-70 (1976)
   PUBMED   1087798
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC395850.1, BI823002.1 and
            BC002726.2.
            
            Summary: This gene encodes a basic, proline-rich, 15-kD protein.
            The protein acts as a positive mediator of programmed cell death
            that is induced by interferon-gamma. Alternatively spliced
            transcript variants encoding distinct isoforms have been found for
            this gene. [provided by RefSeq, May 2014].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK298670.1, DC428766.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2145245,
                                           SAMEA2147920 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..204
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.2"
     Protein         1..204
                     /product="death-associated protein 1 isoform 1"
                     /note="death-associated protein 1; DAP-1"
                     /calculated_mol_wt=23092
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:16602700; propagated from
                     UniProtKB/Swiss-Prot (P51397.3)"
     Site            3
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MTOR.
                     /evidence=ECO:0000269|PubMed:16602700,
                     ECO:0000269|PubMed:20537536; propagated from
                     UniProtKB/Swiss-Prot (P51397.3)"
     Region          12..>56
                     /region_name="DAP"
                     /note="Death-associated protein; pfam15228"
                     /db_xref="CDD:434550"
     Site            29
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q91XC8; propagated from
                     UniProtKB/Swiss-Prot (P51397.3)"
     Site            49
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16602700,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (P51397.3)"
     CDS             1..204
                     /gene="DAP"
                     /gene_synonym="DAP1"
                     /coded_by="NM_001291963.2:167..781"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS77997.1"
                     /db_xref="GeneID:1611"
                     /db_xref="HGNC:HGNC:2672"
                     /db_xref="MIM:600954"
ORIGIN      
        1 mssppegkle tkaghppavk aggmrivqkh phtgdtkeek dkddqewesp rvtkisprrl
       61 rrwltrsrmp pwtsilpqep stssshasep gvhqpapwpr lcctwyfpdr enqqfrpnpt
      121 llgnlrqnqv lcplpyisif ktrnssspnl vygesgwmsf edhcaprgai sricqdprki
      181 lalvlfqqsp dvlvyglknk kahi
//
LOCUS       NP_001362877             379 aa            linear   PRI 27-DEC-2022
DEFINITION  PTB domain-containing engulfment adapter protein 1 isoform g [Homo
            sapiens].
ACCESSION   NP_001362877 XP_006712644
VERSION     NP_001362877.1
DBSOURCE    REFSEQ: accession NM_001375948.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 379)
  AUTHORS   Hayashi M, Guida E, Inokawa Y, Goldberg R, Reis LO, Ooki A, Pilli
            M, Sadhukhan P, Woo J, Choi W, Izumchenko E, Gonzalez LM,
            Marchionni L, Zhavoronkov A, Brait M, Bivalacqua T, Baras A, Netto
            GJ, Koch W, Singh A and Hoque MO.
  TITLE     GULP1 regulates the NRF2-KEAP1 signaling axis in urothelial
            carcinoma
  JOURNAL   Sci Signal 13 (645) (2020)
   PUBMED   32817372
  REMARK    GeneRIF: GULP1 regulates the NRF2-KEAP1 signaling axis in
            urothelial carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 379)
  AUTHORS   Chau DD, Yung KW, Chan WW, An Y, Hao Y, Chan HE, Ngo JC and Lau KF.
  TITLE     Attenuation of amyloid-beta generation by atypical protein kinase
            C-mediated phosphorylation of engulfment adaptor PTB domain
            containing 1 threonine 35
  JOURNAL   FASEB J 33 (11), 12019-12035 (2019)
   PUBMED   31373844
  REMARK    GeneRIF: Results indicate that GULP, engulfment adaptor PTB domain
            containing 1 (GULP1) threonine 35 (T35) phosphorylation is a
            mechanism for the regulation of GULP1-amyloid beta precursor
            protein (APP) interaction and thereby APP processing.
REFERENCE   3  (residues 1 to 379)
  AUTHORS   Gong J, Gaitanos TN, Luu O, Huang Y, Gaitanos L, Lindner J,
            Winklbauer R and Klein R.
  TITLE     Gulp1 controls Eph/ephrin trogocytosis and is important for cell
            rearrangements during development
  JOURNAL   J Cell Biol 218 (10), 3455-3471 (2019)
   PUBMED   31409653
  REMARK    GeneRIF: the phagocytic adaptor protein Gulp1 regulates
            EphB/ephrinB trogocytosis to achieve efficient cell rearrangements
            of cultured cells and during embryonic development
REFERENCE   4  (residues 1 to 379)
  AUTHORS   Faralli JA, Desikan H, Peotter J, Kanneganti N, Weinhaus B, Filla
            MS and Peters DM.
  TITLE     Genomic/proteomic analyses of dexamethasone-treated human
            trabecular meshwork cells reveal a role for GULP1 and ABR in
            phagocytosis
  JOURNAL   Mol Vis 25, 237-254 (2019)
   PUBMED   31516309
  REMARK    GeneRIF: The knockdown of GULP1 and ABR using siRNAs decreased
            phagocytosis by 40%.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 379)
  AUTHORS   Maldonado L, Brait M, Izumchenko E, Begum S, Chatterjee A, Sen T,
            Loyo M, Barbosa A, Poeta ML, Makarev E, Zhavoronkov A, Fazio VM,
            Angioli R, Rabitti C, Ongenaert M, Van Criekinge W, Noordhuis MG,
            de Graeff P, Wisman GBA, van der Zee AGJ and Hoque MO.
  TITLE     Integrated transcriptomic and epigenomic analysis of ovarian cancer
            reveals epigenetically silenced GULP1
  JOURNAL   Cancer Lett 433, 242-251 (2018)
   PUBMED   29964205
  REMARK    GeneRIF: GULP1 methylation was associated with clinicopathological
            parameters such as stage III/IV, poorly differentiated grade,
            residual disease, worse overall and disease specific survival in
            ovarian cancer.
REFERENCE   6  (residues 1 to 379)
  AUTHORS   Park SY, Kang KB, Thapa N, Kim SY, Lee SJ and Kim IS.
  TITLE     Requirement of adaptor protein GULP during stabilin-2-mediated cell
            corpse engulfment
  JOURNAL   J Biol Chem 283 (16), 10593-10600 (2008)
   PUBMED   18230608
  REMARK    GeneRIF: GULP is a likely downstream molecule in the
            stabilin-2-mediated signaling pathway and plays an important role
            in stabilin-2-mediated phagocytosis
REFERENCE   7  (residues 1 to 379)
  AUTHORS   Fu GK, Wang JT, Yang J, Au-Young J and Stuve LL.
  TITLE     Circular rapid amplification of cDNA ends for high-throughput
            extension cloning of partial genes
  JOURNAL   Genomics 84 (1), 205-210 (2004)
   PUBMED   15203218
REFERENCE   8  (residues 1 to 379)
  AUTHORS   Su HP, Nakada-Tsukui K, Tosello-Trampont AC, Li Y, Bu G, Henson PM
            and Ravichandran KS.
  TITLE     Interaction of CED-6/GULP, an adapter protein involved in
            engulfment of apoptotic cells with CED-1 and CD91/low density
            lipoprotein receptor-related protein (LRP)
  JOURNAL   J Biol Chem 277 (14), 11772-11779 (2002)
   PUBMED   11729193
  REMARK    GeneRIF: Interaction of CED-6/GULP, an adapter protein involved in
            engulfment of apoptotic cells with CED-1 and CD91/low density
            lipoprotein receptor-related protein (LRP).
REFERENCE   9  (residues 1 to 379)
  AUTHORS   Liu QA and Hengartner MO.
  TITLE     Human CED-6 encodes a functional homologue of the Caenorhabditis
            elegans engulfment protein CED-6
  JOURNAL   Curr Biol 9 (22), 1347-1350 (1999)
   PUBMED   10574771
REFERENCE   10 (residues 1 to 379)
  AUTHORS   Smits E, Van Criekinge W, Plaetinck G and Bogaert T.
  TITLE     The human homologue of Caenorhabditis elegans CED-6 specifically
            promotes phagocytosis of apoptotic cells
  JOURNAL   Curr Biol 9 (22), 1351-1354 (1999)
   PUBMED   10574763
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104131.4, AC108493.6,
            AC125490.5 and AC092598.2.
            On Nov 6, 2019 this sequence version replaced XP_006712644.1.
            
            Summary: The protein encoded by this gene is an adapter protein
            necessary for the engulfment of apoptotic cells by phagocytes.
            Several transcript variants, some protein coding and some thought
            not to be protein coding, have been found for this gene. [provided
            by RefSeq, Nov 2011].
            
            Transcript Variant: This variant (27), as well as variant 28,
            encodes the longest isoform (g).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.895784.1,
                                           SRR14038191.2277853.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..379
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.1-q32.2"
     Protein         1..379
                     /product="PTB domain-containing engulfment adapter protein
                     1 isoform g"
                     /note="engulfment adapter protein; PTB domain adaptor
                     protein CED-6; PTB domain-containing engulfment adapter
                     protein 1; GULP, engulfment adaptor PTB domain containing
                     1; cell death protein 6 homolog; PTB domain adapter
                     protein CED-6"
                     /calculated_mol_wt=42553
     Region          14..157
                     /region_name="PTB_CED-6"
                     /note="Cell death protein 6 homolog (CED-6/GULP1)
                     Phosphotyrosine-binding (PTB) domain; cd01273"
                     /db_xref="CDD:269971"
     Site            order(30,109,129)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269971"
     Site            order(98..103,116,138,142)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269971"
     Region          <163..195
                     /region_name="bZIP"
                     /note="Basic leucine zipper (bZIP) domain of bZIP
                     transcription factors: a DNA-binding and dimerization
                     domain; cd14686"
                     /db_xref="CDD:269834"
     Site            order(165..166,169..170,172..173,176..177,179..180,
                     183..184,186..187,190..191,193..194)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:269834"
     CDS             1..379
                     /gene="GULP1"
                     /gene_synonym="CED-6; CED6; GULP"
                     /coded_by="NM_001375948.1:465..1604"
                     /note="isoform g is encoded by transcript variant 27"
                     /db_xref="CCDS:CCDS92916.1"
                     /db_xref="GeneID:51454"
                     /db_xref="HGNC:HGNC:18649"
                     /db_xref="MIM:608165"
ORIGIN      
        1 mnrafsrkkd ktwmhtpeal skhfipynak flgsteveqp kgtevvrdav rklkfarhik
       61 ksegqkipkv elqisiygvk ilepktkevq hncqlhrisf caddktdkri ftfickdses
      121 nkhlcyvfds ekcaeeitlt igqafdlayr kflesggkdv etrkqiaglq kriqdleten
      181 melknkvqdl enqlritqvs appllhnmsd heqhvfqrcs ssfwrsngds spclnissis
      241 vtpinspdsr lslgllippp skcgfpkpvs essiprphag smtpkspstd ifdmipfspi
      301 shqssmptrn gtqpppvpsr steikrdlfg aepfdpfncg aadfppdiqs kldemqegfk
      361 mgltlegtvf cldpldsrc
//
LOCUS       NP_001364103             378 aa            linear   PRI 27-DEC-2022
DEFINITION  ecto-ADP-ribosyltransferase 3 isoform l precursor [Homo sapiens].
ACCESSION   NP_001364103 XP_024309825
VERSION     NP_001364103.1
DBSOURCE    REFSEQ: accession NM_001377174.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 378)
  AUTHORS   Tan L, Song X, Sun X, Wang N, Qu Y and Sun Z.
  TITLE     ART3 regulates triple-negative breast cancer cell function via
            activation of Akt and ERK pathways
  JOURNAL   Oncotarget 7 (29), 46589-46602 (2016)
   PUBMED   27374177
  REMARK    GeneRIF: knockdown of ART3 in breast cancer cells inhibited cell
            proliferation and invasion.
REFERENCE   2  (residues 1 to 378)
  AUTHORS   Okada H, Tajima A, Shichiri K, Tanaka A, Tanaka K and Inoue I.
  TITLE     Genome-wide expression of azoospermia testes demonstrates a
            specific profile and implicates ART3 in genetic susceptibility
  JOURNAL   PLoS Genet 4 (2), e26 (2008)
   PUBMED   18266473
  REMARK    GeneRIF: genome-wide gene expression analyses were used to identify
            genes involved in the pathogenesis of non-obstructive azoospermia,
            and ART3 was subsequently identified as a susceptibility gene
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 378)
  AUTHORS   Friedrich M, Grahnert A, Klein C, Tschop K, Engeland K and
            Hauschildt S.
  TITLE     Genomic organization and expression of the human
            mono-ADP-ribosyltransferase ART3 gene
  JOURNAL   Biochim Biophys Acta 1759 (6), 270-280 (2006)
   PUBMED   16934346
  REMARK    GeneRIF: ART3 expression appears to be governed by a combination of
            differential splicing and tissue-preferential use of two
            alternative promoters.
REFERENCE   4  (residues 1 to 378)
  AUTHORS   Friedrich M, Grahnert A, Paasch U, Tannapfel A, Koch-Nolte F and
            Hauschildt S.
  TITLE     Expression of toxin-related human mono-ADP-ribosyltransferase 3 in
            human testes
  JOURNAL   Asian J Androl 8 (3), 281-287 (2006)
   PUBMED   16625277
  REMARK    GeneRIF: ART3 protein is expressed in testes in particular on
            spermatocytes, indicating that ART3 exerts a specific function only
            required at a particular stage of spermatogenesis.
REFERENCE   5  (residues 1 to 378)
  AUTHORS   Friedrich M, Grahnert A and Hauschildt S.
  TITLE     Analysis of the 3' UTR of the ART3 and ART4 gene by 3' inverse
            RACE-PCR
  JOURNAL   DNA Seq 16 (1), 53-57 (2005)
   PUBMED   16040347
REFERENCE   6  (residues 1 to 378)
  AUTHORS   Glowacki G, Braren R, Firner K, Nissen M, Kuhl M, Reche P, Bazan F,
            Cetkovic-Cvrlje M, Leiter E, Haag F and Koch-Nolte F.
  TITLE     The family of toxin-related ecto-ADP-ribosyltransferases in humans
            and the mouse
  JOURNAL   Protein Sci 11 (7), 1657-1670 (2002)
   PUBMED   12070318
REFERENCE   7  (residues 1 to 378)
  AUTHORS   Grahnert A, Friedrich M, Pfister M, Haag F, Koch-Nolte F and
            Hauschildt S.
  TITLE     Mono-ADP-ribosyltransferases in human monocytes: regulation by
            lipopolysaccharide
  JOURNAL   Biochem J 362 (Pt 3), 717-723 (2002)
   PUBMED   11879200
REFERENCE   8  (residues 1 to 378)
  AUTHORS   Balducci E, Horiba K, Usuki J, Park M, Ferrans VJ and Moss J.
  TITLE     Selective expression of RT6 superfamily in human bronchial
            epithelial cells
  JOURNAL   Am J Respir Cell Mol Biol 21 (3), 337-346 (1999)
   PUBMED   10460751
REFERENCE   9  (residues 1 to 378)
  AUTHORS   Koch-Nolte F, Haag F, Braren R, Kuhl M, Hoovers J, Balasubramanian
            S, Bazan F and Thiele HG.
  TITLE     Two novel human members of an emerging mammalian gene family
            related to mono-ADP-ribosylating bacterial toxins
  JOURNAL   Genomics 39 (3), 370-376 (1997)
   PUBMED   9119374
  REMARK    Erratum:[Genomics 1999 Jan 1;55(1):130]
REFERENCE   10 (residues 1 to 378)
  AUTHORS   Levy I, Wu YQ, Roeckel N, Bulle F, Pawlak A, Siegrist S, Mattei MG
            and Guellaen G.
  TITLE     Human testis specifically expresses a homologue of the rodent T
            lymphocytes RT6 mRNA
  JOURNAL   FEBS Lett 382 (3), 276-280 (1996)
   PUBMED   8605984
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC112719.4.
            On Dec 17, 2019 this sequence version replaced XP_024309825.1.
            
            Summary: This gene encodes an arginine-specific
            ADP-ribosyltransferase. The encoded protein catalyzes a reversible
            reaction which modifies proteins by the addition or removal of
            ADP-ribose to an arginine residue to regulate the function of the
            modified protein. An ADP-ribosyltransferase pseudogene is located
            on chromosome 11. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Dec
            2011].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.183613.1,
                                           SRR1803615.116324.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..378
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.1"
     Protein         1..378
                     /product="ecto-ADP-ribosyltransferase 3 isoform l
                     precursor"
                     /EC_number="2.4.2.31"
                     /note="ecto-ADP-ribosyltransferase 3;
                     mono-ADP-ribosyltransferase; mono(ADP-ribosyl)transferase
                     3; NAD(P)(+)--arginine ADP-ribosyltransferase 3;
                     ADP-ribosyltransferase C2 and C3 toxin-like 3"
                     /calculated_mol_wt=39764
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2951
     Region          29..252
                     /region_name="ART"
                     /note="NAD:arginine ADP-ribosyltransferase; pfam01129"
                     /db_xref="CDD:279473"
     CDS             1..378
                     /gene="ART3"
                     /gene_synonym="ARTC3"
                     /coded_by="NM_001377174.1:121..1257"
                     /note="isoform l precursor is encoded by transcript
                     variant 5"
                     /db_xref="GeneID:419"
                     /db_xref="HGNC:HGNC:725"
                     /db_xref="MIM:603086"
ORIGIN      
        1 mktghfeivt mllatmilvd ifqvkaevld madnafddey lkctdrmeik yvpqllkeek
       61 ashqqldtvw enakakwaar ktqiflpmnf kdnhgialma yiseaqeqtp fyhlfseavk
      121 magqsredyi ygfqfkafhf yltralqllr kpceassktv vyrtsqgtsf tfgglnqarf
      181 ghftlaysak pqaandqltv lsiytclgvd ienfldkese ritliplnev fqvsqegagn
      241 nlilqsinkt cshyecaflg glktencien leyfqpiyvy npgeknqkle dhseknwkle
      301 dhgeknqkle dhgvkilept qipgmkipep fplpapgpvp vpgpkshpsa ssgklllpqf
      361 gmviilisvs ainlfval
//
LOCUS       NP_001352270             250 aa            linear   PRI 27-DEC-2022
DEFINITION  shieldin complex subunit 3 [Homo sapiens].
ACCESSION   NP_001352270
VERSION     NP_001352270.1
DBSOURCE    REFSEQ: accession NM_001365341.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 250)
  AUTHORS   Dai Y, Zhang F, Wang L, Shan S, Gong Z and Zhou Z.
  TITLE     Structural basis for shieldin complex subunit 3-mediated
            recruitment of the checkpoint protein REV7 during DNA double-strand
            break repair
  JOURNAL   J Biol Chem 295 (1), 250-262 (2020)
   PUBMED   31796627
  REMARK    GeneRIF: Structural basis for shieldin complex subunit 3-mediated
            recruitment of the checkpoint protein REV7 during DNA double-strand
            break repair.
REFERENCE   2  (residues 1 to 250)
  AUTHORS   Ghezraoui H, Oliveira C, Becker JR, Bilham K, Moralli D, Anzilotti
            C, Fischer R, Deobagkar-Lele M, Sanchiz-Calvo M, Fueyo-Marcos E,
            Bonham S, Kessler BM, Rottenberg S, Cornall RJ, Green CM and
            Chapman JR.
  TITLE     53BP1 cooperation with the REV7-shieldin complex underpins DNA
            structure-specific NHEJ
  JOURNAL   Nature 560 (7716), 122-127 (2018)
   PUBMED   30046110
REFERENCE   3  (residues 1 to 250)
  AUTHORS   Noordermeer SM, Adam S, Setiaputra D, Barazas M, Pettitt SJ, Ling
            AK, Olivieri M, Alvarez-Quilon A, Moatti N, Zimmermann M,
            Annunziato S, Krastev DB, Song F, Brandsma I, Frankum J, Brough R,
            Sherker A, Landry S, Szilard RK, Munro MM, McEwan A, Goullet de
            Rugy T, Lin ZY, Hart T, Moffat J, Gingras AC, Martin A, van Attikum
            H, Jonkers J, Lord CJ, Rottenberg S and Durocher D.
  TITLE     The shieldin complex mediates 53BP1-dependent DNA repair
  JOURNAL   Nature 560 (7716), 117-121 (2018)
   PUBMED   30022168
REFERENCE   4  (residues 1 to 250)
  AUTHORS   Mirman Z, Lottersberger F, Takai H, Kibe T, Gong Y, Takai K,
            Bianchi A, Zimmermann M, Durocher D and de Lange T.
  TITLE     53BP1-RIF1-shieldin counteracts DSB resection through CST- and
            Polalpha-dependent fill-in
  JOURNAL   Nature 560 (7716), 112-116 (2018)
   PUBMED   30022158
REFERENCE   5  (residues 1 to 250)
  AUTHORS   Dev H, Chiang TW, Lescale C, de Krijger I, Martin AG, Pilger D,
            Coates J, Sczaniecka-Clift M, Wei W, Ostermaier M, Herzog M, Lam J,
            Shea A, Demir M, Wu Q, Yang F, Fu B, Lai Z, Balmus G,
            Belotserkovskaya R, Serra V, O'Connor MJ, Bruna A, Beli P,
            Pellegrini L, Caldas C, Deriano L, Jacobs JJL, Galanty Y and
            Jackson SP.
  TITLE     Shieldin complex promotes DNA end-joining and counters homologous
            recombination in BRCA1-null cells
  JOURNAL   Nat Cell Biol 20 (8), 954-965 (2018)
   PUBMED   30022119
REFERENCE   6  (residues 1 to 250)
  AUTHORS   Gupta R, Somyajit K, Narita T, Maskey E, Stanlie A, Kremer M, Typas
            D, Lammers M, Mailand N, Nussenzweig A, Lukas J and Choudhary C.
  TITLE     DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of
            NHEJ and PARP Inhibitor Sensitivity
  JOURNAL   Cell 173 (4), 972-988 (2018)
   PUBMED   29656893
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008560.6.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.26410.1,
                                           SRR14038191.1379116.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000510585.3/ ENSP00000424007.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..250
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q12.3"
     Protein         1..250
                     /product="shieldin complex subunit 3"
                     /note="REV7-interacting novel NHEJ regulator 1; shield
                     complex subunit 3"
                     /calculated_mol_wt=28711
     Region          4..63
                     /region_name="RBD_SHLD3_N"
                     /note="N-terminal REV7-binding domain of Shieldin complex
                     subunit 3 (SHLD3) and similar proteins; cd22293"
                     /db_xref="CDD:412089"
     Site            order(4..11,13,16,19..20,22,24..33,36..45,49..60)
                     /site_type="other"
                     /note="tetramer interface [polypeptide binding]"
                     /db_xref="CDD:412089"
     Region          28..83
                     /region_name="Sufficient for interaction with MAD2L2.
                     /evidence=ECO:0000269|PubMed:29656893"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNX1.1)"
     Region          108..129
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNX1.1)"
     CDS             1..250
                     /gene="SHLD3"
                     /gene_synonym="CTC-534A2.2; RINN1"
                     /coded_by="NM_001365341.2:201..953"
                     /db_xref="CCDS:CCDS93722.1"
                     /db_xref="GeneID:112441434"
                     /db_xref="HGNC:HGNC:53826"
                     /db_xref="MIM:618030"
ORIGIN      
        1 mttevilhyr pcesdptqlp kiaekaiqdf ptrplsrfip wfpydgsklp lrpkrsppvi
       61 seeaaedvkq yltisehdak shsydctvdl lefqpslkkq hltwshtlke qtnsgnlgkq
      121 sekgkqhkrr swsislpsnn ctknvsplsk klqdslkaln lhslyrarwt iehticnsqt
      181 lediwtklnq iirhnelpsc natiqrhlgq iwvfcdimyc eyvgsllkgr laltgkinlf
      241 vhkygvifsm
//
LOCUS       NP_001273380             179 aa            linear   PRI 27-DEC-2022
DEFINITION  guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1
            isoform 1 [Homo sapiens].
ACCESSION   NP_001273380 XP_005254966
VERSION     NP_001273380.1
DBSOURCE    REFSEQ: accession NM_001286451.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 179)
  AUTHORS   Ding CC, Rose J, Sun T, Wu J, Chen PH, Lin CC, Yang WH, Chen KY,
            Lee H, Xu E, Tian S, Akinwuntan J, Zhao J, Guan Z, Zhou P and Chi
            JT.
  TITLE     MESH1 is a cytosolic NADPH phosphatase that regulates ferroptosis
  JOURNAL   Nat Metab 2 (3), 270-277 (2020)
   PUBMED   32462112
  REMARK    GeneRIF: MESH1 is a cytosolic NADPH phosphatase that regulates
            ferroptosis.
REFERENCE   2  (residues 1 to 179)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 179)
  AUTHORS   Sun D, Lee G, Lee JH, Kim HY, Rhee HW, Park SY, Kim KJ, Kim Y, Kim
            BY, Hong JI, Park C, Choy HE, Kim JH, Jeon YH and Chung J.
  TITLE     A metazoan ortholog of SpoT hydrolyzes ppGpp and functions in
            starvation responses
  JOURNAL   Nat Struct Mol Biol 17 (10), 1188-1194 (2010)
   PUBMED   20818390
  REMARK    GeneRIF: Mesh1, encoded by HDDC3 in humans, contains an active site
            for ppGpp hydrolysis and a conserved His-Asp-box motif for Mn(2+)
            binding. It catalyzes hydrolysis of ppGpp both in vitro and in
            vivo.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC068831.17.
            On Nov 6, 2013 this sequence version replaced XP_005254966.1.
            
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the longer isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2017959.1,
                                           SRR3476690.1176030.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394272.8/ ENSP00000377814.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..179
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     Protein         1..179
                     /product="guanosine-3',5'-bis(diphosphate)
                     3'-pyrophosphohydrolase MESH1 isoform 1"
                     /EC_number="3.1.7.2"
                     /note="HD domain-containing protein 3;
                     guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase
                     MESH1; penta-phosphate guanosine-3'-pyrophosphohydrolase;
                     metazoan SpoT homolog 1"
                     /calculated_mol_wt=20198
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylglycine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q8N4P3.3)"
     Region          4..>137
                     /region_name="SpoT"
                     /note="(p)ppGpp synthase/hydrolase, HD superfamily [Signal
                     transduction mechanisms, Transcription]; COG0317"
                     /db_xref="CDD:223394"
     Site            25
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q8N4P3.3)"
     Site            97
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q8N4P3.3)"
     Site            123
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q8N4P3.3)"
     CDS             1..179
                     /gene="HDDC3"
                     /gene_synonym="(ppGpp)ase; MESH1"
                     /coded_by="NM_001286451.2:10..549"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS66866.1"
                     /db_xref="GeneID:374659"
                     /db_xref="HGNC:HGNC:30522"
ORIGIN      
        1 mgseaaqlle aadfaarkhr qqrrkdpegt pyinhpigva riltheagit divvlqaall
       61 hdtvedtdtt ldevelhfga qvrrlveevt ddktlpkler krlqveqaph sspgaklvkl
      121 adklynlrdl nrctpegwse hrvqeyfewa aqvvkglqgt nrqleealkh lfkqrglti
//
LOCUS       NP_001357050             508 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger MYND domain-containing protein 11 isoform p [Homo
            sapiens].
ACCESSION   NP_001357050
VERSION     NP_001357050.1
DBSOURCE    REFSEQ: accession NM_001370121.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 508)
  AUTHORS   Devoucoux M, Fort V, Khelifi G, Xu J, Alerasool N, Galloy M, Wong
            N, Bourriquen G, Fradet-Turcotte A, Taipale M, Hope K, Hussein SMI
            and Cote J.
  TITLE     Oncogenic ZMYND11-MBTD1 fusion protein anchors the NuA4/TIP60
            histone acetyltransferase complex to the coding region of active
            genes
  JOURNAL   Cell Rep 39 (11), 110947 (2022)
   PUBMED   35705031
  REMARK    GeneRIF: Oncogenic ZMYND11-MBTD1 fusion protein anchors the
            NuA4/TIP60 histone acetyltransferase complex to the coding region
            of active genes.
REFERENCE   2  (residues 1 to 508)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (residues 1 to 508)
  AUTHORS   Zhu J, Du S, Zhang J, Huang G, Dong L, Ren E and Liu D.
  TITLE     microRNA-10a-5p from gastric cancer cell-derived exosomes enhances
            viability and migration of human umbilical vein endothelial cells
            by targeting zinc finger MYND-type containing 11
  JOURNAL   Bioengineered 13 (1), 496-507 (2022)
   PUBMED   34969361
  REMARK    GeneRIF: microRNA-10a-5p from gastric cancer cell-derived exosomes
            enhances viability and migration of human umbilical vein
            endothelial cells by targeting zinc finger MYND-type containing 11.
REFERENCE   4  (residues 1 to 508)
  AUTHORS   Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett
            A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert
            B, Huffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K,
            Moller RS, Nielsen JEK, Popp B, Quteineh L, Ronde G,
            Schonewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring
            PM, Tumer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA
            and Pal DK.
  TITLE     ZMYND11 variants are a novel cause of centrotemporal and
            generalised epilepsies with neurodevelopmental disorder
  JOURNAL   Clin Genet 100 (4), 412-429 (2021)
   PUBMED   34216016
  REMARK    GeneRIF: ZMYND11 variants are a novel cause of centrotemporal and
            generalised epilepsies with neurodevelopmental disorder.
REFERENCE   5  (residues 1 to 508)
  AUTHORS   Li J, Galbo PM Jr, Gong W, Storey AJ, Tsai YH, Yu X, Ahn JH, Guo Y,
            Mackintosh SG, Edmondson RD, Byrum SD, Farrar JE, He S, Cai L, Jin
            J, Tackett AJ, Zheng D and Wang GG.
  TITLE     ZMYND11-MBTD1 induces leukemogenesis through hijacking NuA4/TIP60
            acetyltransferase complex and a PWWP-mediated chromatin association
            mechanism
  JOURNAL   Nat Commun 12 (1), 1045 (2021)
   PUBMED   33594072
  REMARK    GeneRIF: ZMYND11-MBTD1 induces leukemogenesis through hijacking
            NuA4/TIP60 acetyltransferase complex and a PWWP-mediated chromatin
            association mechanism.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 508)
  AUTHORS   Ansieau S and Leutz A.
  TITLE     The conserved Mynd domain of BS69 binds cellular and oncoviral
            proteins through a common PXLXP motif
  JOURNAL   J Biol Chem 277 (7), 4906-4910 (2002)
   PUBMED   11733528
  REMARK    GeneRIF: the C-terminal Mynd domain of BS69 (amino acids 516-561)
            or Mynd domains of the Caenorhabditis elegans proteins Bra-1 and
            Bra-2 bind not only to E1A but also to the Epstein-Barr virus EBNA2
            oncoprotein and the Myc-related cellular protein MGA
REFERENCE   7  (residues 1 to 508)
  AUTHORS   Lo KW, Naisbitt S, Fan JS, Sheng M and Zhang M.
  TITLE     The 8-kDa dynein light chain binds to its targets via a conserved
            (K/R)XTQT motif
  JOURNAL   J Biol Chem 276 (17), 14059-14066 (2001)
   PUBMED   11148209
REFERENCE   8  (residues 1 to 508)
  AUTHORS   Masselink H and Bernards R.
  TITLE     The adenovirus E1A binding protein BS69 is a corepressor of
            transcription through recruitment of N-CoR
  JOURNAL   Oncogene 19 (12), 1538-1546 (2000)
   PUBMED   10734313
  REMARK    GeneRIF: The adenovirus E1A binding protein BS69 is a corepressor
            of transcription through recruitment of N-CoR.
REFERENCE   9  (residues 1 to 508)
  AUTHORS   Kurozumi K, Nishita M, Yamaguchi K, Fujita T, Ueno N and Shibuya H.
  TITLE     BRAM1, a BMP receptor-associated molecule involved in BMP
            signalling
  JOURNAL   Genes Cells 3 (4), 257-264 (1998)
   PUBMED   9663660
REFERENCE   10 (residues 1 to 508)
  AUTHORS   Hateboer G, Gennissen A, Ramos YF, Kerkhoven RM, Sonntag-Buck V,
            Stunnenberg HG and Bernards R.
  TITLE     BS69, a novel adenovirus E1A-associated protein that inhibits E1A
            transactivation
  JOURNAL   EMBO J 14 (13), 3159-3169 (1995)
   PUBMED   7621829
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL713922.12, AL589988.7 and
            AL603831.23.
            
            Summary: The protein encoded by this gene was first identified by
            its ability to bind the adenovirus E1A protein. The protein
            localizes to the nucleus. It functions as a transcriptional
            repressor, and expression of E1A inhibits this repression.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC091489.1, SRR14038195.2080108.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..508
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p15.3"
     Protein         1..508
                     /product="zinc finger MYND domain-containing protein 11
                     isoform p"
                     /note="zinc finger MYND domain-containing protein 11; bone
                     morphogenetic protein receptor-associated molecule 1;
                     adenovirus 5 E1A-binding protein"
                     /calculated_mol_wt=59535
     Region          64..164
                     /region_name="Bromo_ZMYND11"
                     /note="Bromodomain; ZMYND11_like sub-family. ZMYND11 or
                     BS69 is a ubiquitously expressed nuclear protein that has
                     been shown to associate with chromatin. It interacts with
                     chromatin remodeling factors and might play a role in
                     chromatin remodeling and gene...; cd05492"
                     /db_xref="CDD:99924"
     Site            order(86,91,94,133,137,143)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99924"
     Region          181..265
                     /region_name="PWWP_BS69"
                     /note="PWWP domain found in protein BS69 and similar
                     proteins; cd20159"
                     /db_xref="CDD:438987"
     Site            order(183,187)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:438987"
     Site            order(193,195,242,244..245,250..251)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438987"
     Site            order(197,200,216)
                     /site_type="other"
                     /note="putative methyl-histone binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438987"
     Site            198..201
                     /site_type="other"
                     /note="PWWP sequence motif"
                     /db_xref="CDD:438987"
     Region          469..504
                     /region_name="zf-MYND"
                     /note="MYND finger; pfam01753"
                     /db_xref="CDD:426410"
     CDS             1..508
                     /gene="ZMYND11"
                     /gene_synonym="BRAM1; BS69; MRD30"
                     /coded_by="NM_001370121.2:110..1636"
                     /note="isoform p is encoded by transcript variant 34"
                     /db_xref="GeneID:10771"
                     /db_xref="HGNC:HGNC:16966"
                     /db_xref="MIM:608668"
ORIGIN      
        1 msrvhgmhpk ettrqlslav kdglivetlt vgckgskagi eqegywlpgd eisikkkntn
       61 kqemgtylrf ivsrmkerai dlnkkgkdnk hpmyrrlvhs avdvptiqek vnegkyrsye
      121 efkadaqlll hntvifygad seqadiarml ykdtchelde lqlckncfyl snarpdnwfc
      181 ypcipnhelv wakmkgfgfw pakvmqkedn qvdvrffghh hqrawipsen iqditvnihr
      241 lhvkrsmgwk kacdelelhq rflregrfwk sknedrgeee aessisstsn eqlkvtqepr
      301 akkgrrnqsv epkkeepepe teavsssqei ptmpqpiekv svstqtkkls assprmlhrs
      361 tqttndgvcq smchdkytki fndfkdrmks dhkretervv realeklrse meeekrqavn
      421 kavanmqgem drkckqvkek ckeefveeik klatqhkqli sqtkkkqwcy nceeeamyhc
      481 cwntsycsik cqqehwhaeh krtcrrkr
//
LOCUS       NP_001358813             119 aa            linear   PRI 28-DEC-2022
DEFINITION  testis-expressed protein 48 isoform 2 [Homo sapiens].
ACCESSION   NP_001358813
VERSION     NP_001358813.1
DBSOURCE    REFSEQ: accession NM_001371884.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 119)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL160275.14.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.83415.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2151119,
                                           SAMEA2158188 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..119
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q32"
     Protein         1..119
                     /product="testis-expressed protein 48 isoform 2"
                     /note="testis-expressed protein 48"
                     /calculated_mol_wt=13735
     CDS             1..119
                     /gene="TEX48"
                     /coded_by="NM_001371884.1:263..622"
                     /note="isoform 2 is encoded by transcript variant 4"
                     /db_xref="GeneID:100505478"
                     /db_xref="HGNC:HGNC:52393"
ORIGIN      
        1 mahqnlilki fclccrdcqe pyaindskvp sqtqehkpst qnlllqkdel drqnpkrina
       61 vshlpsrtpl iqtkkstsss ssefedlnay asqrnfykrn lnrycqehwp fqpcltgrp
//
LOCUS       NP_115696                475 aa            linear   PRI 29-DEC-2022
DEFINITION  BTB/POZ domain-containing protein 10 isoform 2 [Homo sapiens].
ACCESSION   NP_115696
VERSION     NP_115696.2
DBSOURCE    REFSEQ: accession NM_032320.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 475)
  AUTHORS   Furuta N, Makioka K, Fujita Y, Ikeda M, Takatama M, Matsuoka M and
            Okamoto K.
  TITLE     Reduced expression of BTBD10 in anterior horn cells with Golgi
            fragmentation and pTDP-43-positive inclusions in patients with
            sporadic amyotrophic lateral sclerosis
  JOURNAL   Neuropathology 33 (4), 397-404 (2013)
   PUBMED   23320755
  REMARK    GeneRIF: findings suggest that reduced BTBD10 expression is closely
            linked to the pathogenesis of sporadic amyotrophic lateral
            sclerosis
REFERENCE   2  (residues 1 to 475)
  AUTHORS   Nawa M, Kage-Nakadai E, Aiso S, Okamoto K, Mitani S and Matsuoka M.
  TITLE     Reduced expression of BTBD10, an Akt activator, leads to motor
            neuron death
  JOURNAL   Cell Death Differ 19 (8), 1398-1407 (2012)
   PUBMED   22388351
  REMARK    GeneRIF: Collectively, these results suggest that the reduced
            expression of BTBD10 leads to motor neuron death both in vitro and
            in vivo.
REFERENCE   3  (residues 1 to 475)
  AUTHORS   Wang J, Huo K, Ma L, Tang L, Li D, Huang X, Yuan Y, Li C, Wang W,
            Guan W, Chen H, Jin C, Wei J, Zhang W, Yang Y, Liu Q, Zhou Y, Zhang
            C, Wu Z, Xu W, Zhang Y, Liu T, Yu D, Zhang Y, Chen L, Zhu D, Zhong
            X, Kang L, Gan X, Yu X, Ma Q, Yan J, Zhou L, Liu Z, Zhu Y, Zhou T,
            He F and Yang X.
  TITLE     Toward an understanding of the protein interaction network of the
            human liver
  JOURNAL   Mol Syst Biol 7, 536 (2011)
   PUBMED   21988832
  REMARK    Erratum:[Mol Syst Biol. 2017 Dec 18;13(12 ):965. PMID: 29254952]
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 475)
  AUTHORS   Wang X, Liu Y, Yang Z, Zhang Z, Zhou W, Ye Z, Zhang W, Zhang S,
            Yang Z, Feng X, Chen F and Hu R.
  TITLE     Glucose metabolism-related protein 1 (GMRP1) regulates pancreatic
            beta cell proliferation and apoptosis via activation of Akt
            signalling pathway in rats and mice
  JOURNAL   Diabetologia 54 (4), 852-863 (2011)
   PUBMED   21267538
  REMARK    GeneRIF: GMRP1 regulates pancreatic beta cell proliferation and
            apoptosis via activation of Akt signalling pathway.
REFERENCE   5  (residues 1 to 475)
  AUTHORS   Bennett EJ, Rush J, Gygi SP and Harper JW.
  TITLE     Dynamics of cullin-RING ubiquitin ligase network revealed by
            systematic quantitative proteomics
  JOURNAL   Cell 143 (6), 951-965 (2010)
   PUBMED   21145461
REFERENCE   6  (residues 1 to 475)
  AUTHORS   Nawa M, Kanekura K, Hashimoto Y, Aiso S and Matsuoka M.
  TITLE     A novel Akt/PKB-interacting protein promotes cell adhesion and
            inhibits familial amyotrophic lateral sclerosis-linked mutant
            SOD1-induced neuronal death via inhibition of PP2A-mediated
            dephosphorylation of Akt/PKB
  JOURNAL   Cell Signal 20 (3), 493-505 (2008)
   PUBMED   18160256
  REMARK    GeneRIF: BTBD10 appears to behave as a suppressor of cell death
            including neuronal cell death related to amyotrophic lateral
            sclerosis and an enhancer of cell growth via its positive
            regulation of Akt phosphorylation.
REFERENCE   7  (residues 1 to 475)
  AUTHORS   Chen J, Xu J, Ying K, Cao G, Hu G, Wang L, Luo C, Lou M, Mao Y, Xie
            Y and Lu Y.
  TITLE     Molecular cloning and characterization of a novel human BTB
            domain-containing gene, BTBD10, which is down-regulated in glioma
  JOURNAL   Gene 340 (1), 61-69 (2004)
   PUBMED   15556295
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF329102.2.
            On May 23, 2003 this sequence version replaced NP_115696.1.
            
            Transcript Variant: This variant (2) has two alternate upstream
            exons in place of the first exon compared to variant 1. The
            resulting isoform (2) has a shorter and distinct N-terminus
            compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF329102.2, AK292392.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267753 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278174.10/ ENSP00000278174.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..475
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.3"
     Protein         1..475
                     /product="BTB/POZ domain-containing protein 10 isoform 2"
                     /note="BTB (broad-complex tramtrack and bric-a-brac/pox
                     virus and zinc finger) domain-containing protein 10;
                     BTB/POZ domain-containing protein 10; BTB (POZ) domain
                     containing 10; K+ channel tetramerization protein; glucose
                     metabolism-related protein 1; epididymis secretory sperm
                     binding protein"
                     /calculated_mol_wt=53648
     Region          1..143
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BSF8.2)"
     Region          146..475
                     /region_name="Interaction with AKT family members.
                     /evidence=ECO:0000250|UniProtKB:Q80X66"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BSF8.2)"
     Region          165..274
                     /region_name="BTB_POZ_BTBD10_GMRP1"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in BTB/POZ
                     domain-containing protein 10 (BTBD10); cd18385"
                     /db_xref="CDD:349693"
     Region          455..475
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BSF8.2)"
     CDS             1..475
                     /gene="BTBD10"
                     /gene_synonym="GMRP-1; GMRP1"
                     /coded_by="NM_032320.7:189..1616"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS7811.1"
                     /db_xref="GeneID:84280"
                     /db_xref="HGNC:HGNC:21445"
                     /db_xref="MIM:615933"
ORIGIN      
        1 magrphpydg nssdpenwdr klhsrprkly khsstssria kggvdhtkms lhgasggher
       61 srdrrrssdr srdssherte sqltpcirnv tsptrqhhve rekdhsssrp ssprpqkasp
      121 ngsissagns srnssqsssd gscktagemv fvyenakega rnirtservt livdntrfvv
      181 dpsiftaqpn tmlgrmfgsg rehnftrpne kgeyevaegi gstvfraild yyktgiircp
      241 dgisipelre acdylcisfe ystikcrdls almhelsndg arrqfefyle emilplmvas
      301 aqsgerechi vvltdddvvd wdeeyppqmg eeysqiiyst klyrffkyie nrdvaksvlk
      361 erglkkirlg iegyptykek vkkrpggrpe viynyvqrpf irmswekeeg ksrhvdfqcv
      421 ksksitnlaa aaadipqdql vvmhptpqvd eldilpihpp sgnsdldpda qnpml
//
LOCUS       NP_683710                306 aa            linear   PRI 29-DEC-2022
DEFINITION  protein ABHD11 isoform 1 [Homo sapiens].
ACCESSION   NP_683710
VERSION     NP_683710.2
DBSOURCE    REFSEQ: accession NM_148912.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 306)
  AUTHORS   Luo J, Jiang Y, Wu L, Zhuo D, Zhang S, Jiang X, Sun Y and Huang Y.
  TITLE     Long non-coding RNA ABHD11-AS1 promotes colorectal cancer
            progression and invasion through targeting the integrin subunit
            alpha 5/focal adhesion kinase/phosphoinositide 3 kinase/Akt
            signaling pathway
  JOURNAL   Aging (Albany NY) 13 (16), 20179-20191 (2021)
   PUBMED   34375304
  REMARK    GeneRIF: Long non-coding RNA ABHD11-AS1 promotes colorectal cancer
            progression and invasion through targeting the integrin subunit
            alpha 5/focal adhesion kinase/phosphoinositide 3 kinase/Akt
            signaling pathway.
REFERENCE   2  (residues 1 to 306)
  AUTHORS   Bailey PSJ, Ortmann BM, Martinelli AW, Houghton JW, Costa ASH, Burr
            SP, Antrobus R, Frezza C and Nathan JA.
  TITLE     ABHD11 maintains 2-oxoglutarate metabolism by preserving functional
            lipoylation of the 2-oxoglutarate dehydrogenase complex
  JOURNAL   Nat Commun 11 (1), 4046 (2020)
   PUBMED   32792488
  REMARK    GeneRIF: ABHD11 maintains 2-oxoglutarate metabolism by preserving
            functional lipoylation of the 2-oxoglutarate dehydrogenase complex.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 306)
  AUTHORS   Escoubet J, Kenigsberg M, Derock M, Yaligara V, Bock MD, Roche S,
            Massey F, de Foucauld H, Bettembourg C, Olivier A, Berthemy A,
            Capdevielle J, Legoux R, Perret E, Buzy A, Chardenot P, Destelle V,
            Leroy A, Cahours C, Teixeira S, Juvet P, Gauthier P, Leguet M,
            Rocheteau-Beaujouan L, Chatoux MA, Deshayes W, Clement M, Kabiri M,
            Orsini C, Mikol V, Didier M and Guillemot JC.
  TITLE     ABHD11, a new diacylglycerol lipase involved in weight gain
            regulation
  JOURNAL   PLoS One 15 (6), e0234780 (2020)
   PUBMED   32579589
  REMARK    GeneRIF: ABHD11, a new diacylglycerol lipase involved in weight
            gain regulation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 306)
  AUTHORS   He D, Yue Z, Liu L, Fang X, Chen L and Han H.
  TITLE     Long noncoding RNA ABHD11-AS1 promote cells proliferation and
            invasion of colorectal cancer via regulating the miR-1254-WNT11
            pathway
  JOURNAL   J Cell Physiol 234 (7), 12070-12079 (2019)
   PUBMED   30537177
  REMARK    GeneRIF: that ABHD11-AS1 promotes CRC progression through the
            miR-1254-WNT11 pathway
REFERENCE   5  (residues 1 to 306)
  AUTHORS   Arya M, Srinivasan M and Rajasekharan R.
  TITLE     Human alpha beta hydrolase domain containing protein 11 and its
            yeast homolog are lipid hydrolases
  JOURNAL   Biochem Biophys Res Commun 487 (4), 875-880 (2017)
   PUBMED   28465236
  REMARK    GeneRIF: The results demonstrate that human ABHD11 and its yeast
            homolog YGR031W have a pivotal role in the lipid metabolism.
REFERENCE   6  (residues 1 to 306)
  AUTHORS   Yang Y, Shao Y, Zhu M, Li Q, Yang F, Lu X, Xu C, Xiao B, Sun Y and
            Guo J.
  TITLE     Using gastric juice lncRNA-ABHD11-AS1 as a novel type of biomarker
            in the screening of gastric cancer
  JOURNAL   Tumour Biol 37 (1), 1183-1188 (2016)
   PUBMED   26280398
  REMARK    GeneRIF: ABHD11-AS1 is expressed in gastric cancer tissues and may
            have a role as a biological marker
REFERENCE   7  (residues 1 to 306)
  AUTHORS   Wiedl T, Arni S, Roschitzki B, Grossmann J, Collaud S, Soltermann
            A, Hillinger S, Aebersold R and Weder W.
  TITLE     Activity-based proteomics: identification of ABHD11 and ESD
            activities as potential biomarkers for human lung adenocarcinoma
  JOURNAL   J Proteomics 74 (10), 1884-1894 (2011)
   PUBMED   21596165
  REMARK    GeneRIF: Abhydrolase domain-containing protein 11 and Esterase D
            predict the development of distant metastases and the presence of
            aggressive lung adenocarcinomas.
REFERENCE   8  (residues 1 to 306)
  AUTHORS   Merla G, Ucla C, Guipponi M and Reymond A.
  TITLE     Identification of additional transcripts in the Williams-Beuren
            syndrome critical region
  JOURNAL   Hum Genet 110 (5), 429-438 (2002)
   PUBMED   12073013
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073846.6.
            On Aug 10, 2020 this sequence version replaced NP_683710.1.
            
            Summary: This gene encodes a protein containing an alpha/beta
            hydrolase fold domain. This gene is deleted in Williams syndrome, a
            multisystem developmental disorder caused by the deletion of
            contiguous genes at 7q11.23. [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (1, also known as A) encodes
            isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC067750.1, AF412030.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG   :: upstream AUG and CDS
                                                  extension is not conserved
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000222800.8/
                                                  ENSP00000222800.4
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..306
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     Protein         1..306
                     /product="protein ABHD11 isoform 1"
                     /note="Williams Beuren syndrome chromosome region 21;
                     abhydrolase domain-containing protein 11; alpha/beta
                     hydrolase domain-containing protein 11; protein ABHD11"
                     /calculated_mol_wt=33616
     Region          44..305
                     /region_name="PRK10673"
                     /note="esterase"
                     /db_xref="CDD:182637"
     CDS             1..306
                     /gene="ABHD11"
                     /gene_synonym="PP1226; WBSCR21"
                     /coded_by="NM_148912.4:33..953"
                     /note="isoform 1 is encoded by transcript variant 1, also
                     known as A"
                     /db_xref="CCDS:CCDS5558.2"
                     /db_xref="GeneID:83451"
                     /db_xref="HGNC:HGNC:16407"
ORIGIN      
        1 mlrwtrawrl preglgphgp sfarvpvaps sssggrggae prplplsyrl ldgeaalpav
       61 vflhglfgsk tnfnsiakil aqqtgrrvlt vdarnhgdsp hspdmsyeim sqdlqdllpq
      121 lglvpcvvvg hsmggktaml lalqrpelve rliavdispv estgvshfat yvaamraini
      181 adelprsrar kladeqlssv iqdmavrqhl ltnlvevdgr fvwrvnldal tqhldkilaf
      241 pqrqesylgp tlfllggnsq fvhpshhpei mrlfpraqmq tvpnaghwih adrpqdfiaa
      301 irgflv
//
LOCUS       NP_055781               1155 aa            linear   PRI 29-DEC-2022
DEFINITION  ATP-dependent RNA helicase DHX30 isoform 2 [Homo sapiens].
ACCESSION   NP_055781
VERSION     NP_055781.2
DBSOURCE    REFSEQ: accession NM_014966.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1155)
  AUTHORS   Hikiami R, Morimura T, Ayaki T, Tsukiyama T, Morimura N, Kusui M,
            Wada H, Minamiyama S, Shodai A, Asada-Utsugi M, Muramatsu SI, Ueki
            T, Takahashi R and Urushitani M.
  TITLE     Conformational change of RNA-helicase DHX30 by ALS/FTD-linked FUS
            induces mitochondrial dysfunction and cytosolic aggregates
  JOURNAL   Sci Rep 12 (1), 16030 (2022)
   PUBMED   36163369
  REMARK    GeneRIF: Conformational change of RNA-helicase DHX30 by
            ALS/FTD-linked FUS induces mitochondrial dysfunction and cytosolic
            aggregates.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1155)
  AUTHORS   Miyake N, Kim CA, Haginoya K, Castro MAA, Honjo RS and Matsumoto N.
  TITLE     De novo pathogenic DHX30 variants in two cases
  JOURNAL   Clin Genet 100 (3), 350-351 (2021)
   PUBMED   34180050
  REMARK    GeneRIF: De novo pathogenic DHX30 variants in two cases.
REFERENCE   3  (residues 1 to 1155)
  AUTHORS   Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T,
            Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland
            S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk OL,
            Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J,
            Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson
            A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le
            Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M,
            Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM,
            Prescott T, Rajabi F, Randrianaivo H, Reiter SF,
            Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann
            APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter
            K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ
            and Lessel D.
  TITLE     Genotype-phenotype correlations and novel molecular insights into
            the DHX30-associated neurodevelopmental disorders
  JOURNAL   Genome Med 13 (1), 90 (2021)
   PUBMED   34020708
  REMARK    GeneRIF: Genotype-phenotype correlations and novel molecular
            insights into the DHX30-associated neurodevelopmental disorders.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1155)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   5  (residues 1 to 1155)
  AUTHORS   Rizzotto D, Zaccara S, Rossi A, Galbraith MD, Andrysik Z, Pandey A,
            Sullivan KD, Quattrone A, Espinosa JM, Dassi E and Inga A.
  TITLE     Nutlin-Induced Apoptosis Is Specified by a Translation Program
            Regulated by PCBP2 and DHX30
  JOURNAL   Cell Rep 30 (13), 4355-4369 (2020)
   PUBMED   32234473
  REMARK    GeneRIF: Nutlin-Induced Apoptosis Is Specified by a Translation
            Program Regulated by PCBP2 and DHX30.
REFERENCE   6  (residues 1 to 1155)
  AUTHORS   Ye P, Liu S, Zhu Y, Chen G and Gao G.
  TITLE     DEXH-Box protein DHX30 is required for optimal function of the
            zinc-finger antiviral protein
  JOURNAL   Protein Cell 1 (10), 956-964 (2010)
   PUBMED   21204022
REFERENCE   7  (residues 1 to 1155)
  AUTHORS   Zhou Y, Ma J, Bushan Roy B, Wu JY, Pan Q, Rong L and Liang C.
  TITLE     The packaging of human immunodeficiency virus type 1 RNA is
            restricted by overexpression of an RNA helicase DHX30
  JOURNAL   Virology 372 (1), 97-106 (2008)
   PUBMED   18022663
  REMARK    GeneRIF: Here, we provide evidence that overexpression of an RNA
            helicase named DHX30 enhances HIV-1 gene expression, but leads to
            the generation of viruses that package significantly low levels of
            viral RNA and exhibit severely decreased infectivity.
REFERENCE   8  (residues 1 to 1155)
  AUTHORS   Bogenhagen DF, Rousseau D and Burke S.
  TITLE     The layered structure of human mitochondrial DNA nucleoids
  JOURNAL   J Biol Chem 283 (6), 3665-3675 (2008)
   PUBMED   18063578
  REMARK    GeneRIF: Identifies DHX30 as a nucleoid protein.
REFERENCE   9  (residues 1 to 1155)
  AUTHORS   Hock J, Weinmann L, Ender C, Rudel S, Kremmer E, Raabe M, Urlaub H
            and Meister G.
  TITLE     Proteomic and functional analysis of Argonaute-containing
            mRNA-protein complexes in human cells
  JOURNAL   EMBO Rep 8 (11), 1052-1060 (2007)
   PUBMED   17932509
REFERENCE   10 (residues 1 to 1155)
  AUTHORS   Wang Y and Bogenhagen DF.
  TITLE     Human mitochondrial DNA nucleoids are linked to protein folding
            machinery and metabolic enzymes at the mitochondrial inner membrane
  JOURNAL   J Biol Chem 281 (35), 25791-25802 (2006)
   PUBMED   16825194
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC047335.1 and BC015029.1.
            On Apr 28, 2002 this sequence version replaced NP_055781.1.
            
            Summary: DEAD box proteins, characterized by the conserved motif
            Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are
            implicated in a number of cellular processes involving alteration
            of RNA secondary structure such as translation initiation, nuclear
            and mitochondrial splicing, and ribosome and spliceosome assembly.
            Based on their distribution patterns, some members of this DEAD box
            protein family are believed to be involved in embryogenesis,
            spermatogenesis, and cellular growth and division. The family
            member encoded by this gene is a mitochondrial nucleoid protein
            that associates with mitochondrial DNA. It has also been identified
            as a component of a transcriptional repressor complex that
            functions in retinal development, and it is required to optimize
            the function of the zinc-finger antiviral protein. Alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Feb 2013].
            
            Transcript Variant: This variant (2) differs in its 5' UTR and uses
            an alternate translational start codon, compared to variant 1. The
            resulting isoform (2) has a distinct and shorter N-terminus,
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC015029.1, SRR18074967.4095411.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 18063578
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1155
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..1155
                     /product="ATP-dependent RNA helicase DHX30 isoform 2"
                     /EC_number="3.6.4.13"
                     /note="DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30;
                     putative ATP-dependent RNA helicase DHX30; retina
                     co-repressor; DEAH box protein 30; DEAH (Asp-Glu-Ala-His)
                     box polypeptide 30; DEAH (Asp-Glu-Ala-His) box helicase
                     30; DEAH-box helicase 30"
                     /calculated_mol_wt=129307
     Region          384..>1033
                     /region_name="HrpA"
                     /note="HrpA-like RNA helicase [Translation, ribosomal
                     structure and biogenesis]; COG1643"
                     /db_xref="CDD:224557"
     CDS             1..1155
                     /gene="DHX30"
                     /gene_synonym="DDX30; NEDMIAL; RETCOR"
                     /coded_by="NM_014966.4:344..3811"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:22907"
                     /db_xref="HGNC:HGNC:16716"
                     /db_xref="MIM:616423"
ORIGIN      
        1 maasrdllke fpqpknllns vigralgish akdklvyvht ngpkkkkvtl hikwpksvev
       61 egygskkida erqaaaaacq lfkgwgllgp rnelfdaaky rvladrfgsp adswwrpept
      121 mpptswrqln pesirpggpg glsrslgree eedeeeelee gtidvtdfls mtqqdshapl
      181 rdsrgssfem tdddsairal tqfplpknll akviqiatss staknlmqfh tvgtktklst
      241 ltllwpcpmt fvakgrrkae aenkaaalac kklkslglvd rnnepltham ynlaslrelg
      301 etqrrpctiq vpepilrkie tflnhypves swiapelrlq sddilplgkd sgplsdpitg
      361 kpyvplleae evrlsqslle lwrrrgpvwq eapqlpvdph rdtilnaieq hpvvvisgdt
      421 gcgkttripq llleryvteg rgarcnviit qprrisavsv aqrvshelgp slrrnvgfqv
      481 rleskppsrg gallfctvgi llrklqsnps legvshvivd evherdvntd fllillkglq
      541 rlnpalrlvl msatgdnerf sryfggcpvi kvpgfmypvk ehyledilak lgkhqylhrh
      601 rhhesedeca ldldlvtdlv lhidargepg gilcflpgwq eikgvqqrlq ealgmhesky
      661 lilpvhsnip mmdqkaifqq ppvgvrkivl atniaetsit indivhvvds glhkeerydl
      721 ktkvscletv wvsranviqr rgragrcqsg fayhlfprsr lekmvpfqvp eilrtplenl
      781 vlqakihmpe ktaveflska vdspnikavd eavillqeig vldqreyltt lgqrlahist
      841 dprlakaivl aaifrclhpl lvvvscltrd pfssslqnra evdkvkalls hdsgsdhlaf
      901 vravagweev lrwqdrssre nyleenllya pslrfihgli kqfseniyea flvgkpsdct
      961 lasaqcneys eeeelvkgvl maglypnliq vrqgkvtrqg kfkpnsvtyr tksgnillhk
     1021 stinreatrl rsrwltyfma vksngsvfvr dssqvhplav llltdgdvhi rddgrratis
     1081 lsdsdllrle gdsrtvrllk elrralgrmv erslrselaa lppsvqeehg qllallaell
     1141 rgpcgsfdvr ktadd
//
LOCUS       NP_001255979             422 aa            linear   PRI 30-DEC-2022
DEFINITION  transcriptional repressor CTCFL isoform 10 [Homo sapiens].
ACCESSION   NP_001255979
VERSION     NP_001255979.1
DBSOURCE    REFSEQ: accession NM_001269050.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 422)
  AUTHORS   Rao GK, Makani VKK, Mendonza JJ, Edathara PM, Patel N, Ramakrishna
            M, Cilamkoti P, Chiring Phukon J, Jose J, Bhadra U and Bhadra MP.
  TITLE     Downregulation of BORIS/CTCFL leads to ROS-dependent cellular
            senescence and drug sensitivity in MYCN-amplified neuroblastoma
  JOURNAL   FEBS J 289 (10), 2915-2934 (2022)
   PUBMED   34854238
  REMARK    GeneRIF: Downregulation of BORIS/CTCFL leads to ROS-dependent
            cellular senescence and drug sensitivity in MYCN-amplified
            neuroblastoma.
REFERENCE   2  (residues 1 to 422)
  AUTHORS   Salgado-Albarran M, Spath J, Gonzalez-Barrios R, Baumbach J and
            Soto-Reyes E.
  TITLE     CTCFL regulates the PI3K-Akt pathway and it is a target for
            personalized ovarian cancer therapy
  JOURNAL   NPJ Syst Biol Appl 8 (1), 5 (2022)
   PUBMED   35132075
  REMARK    GeneRIF: CTCFL regulates the PI3K-Akt pathway and it is a target
            for personalized ovarian cancer therapy.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 422)
  AUTHORS   Makani VKK, Mendonza JJ, Edathara PM, Yerramsetty S and Pal Bhadra
            M.
  TITLE     BORIS/CTCFL expression activates the TGFbeta signaling cascade and
            induces Drp1 mediated mitochondrial fission in neuroblastoma
  JOURNAL   Free Radic Biol Med 176, 62-72 (2021)
   PUBMED   34534628
  REMARK    GeneRIF: BORIS/CTCFL expression activates the TGFbeta signaling
            cascade and induces Drp1 mediated mitochondrial fission in
            neuroblastoma.
REFERENCE   4  (residues 1 to 422)
  AUTHORS   Yao H, Shao Q and Shao Y.
  TITLE     Transcription Factor CTCFL Promotes Cell Proliferation, Migration,
            and Invasion in Gastric Cancer via Activating DPPA2
  JOURNAL   Comput Math Methods Med 2021, 9097931 (2021)
   PUBMED   34721660
  REMARK    GeneRIF: Transcription Factor CTCFL Promotes Cell Proliferation,
            Migration, and Invasion in Gastric Cancer via Activating DPPA2.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 422)
  AUTHORS   Miyata K, Imai Y, Hori S, Nishio M, Loo TM, Okada R, Yang L,
            Nakadai T, Maruyama R, Fujii R, Ueda K, Jiang L, Zheng H, Toyokuni
            S, Sakata T, Shirahige K, Kojima R, Nakayama M, Oshima M, Nagayama
            S, Seimiya H, Hirota T, Saya H, Hara E and Takahashi A.
  TITLE     Pericentromeric noncoding RNA changes DNA binding of CTCF and
            inflammatory gene expression in senescence and cancer
  JOURNAL   Proc Natl Acad Sci U S A 118 (35) (2021)
   PUBMED   34426493
  REMARK    GeneRIF: Pericentromeric noncoding RNA changes DNA binding of CTCF
            and inflammatory gene expression in senescence and cancer.
REFERENCE   6  (residues 1 to 422)
  AUTHORS   Hoffmann MJ, Muller M, Engers R and Schulz WA.
  TITLE     Epigenetic control of CTCFL/BORIS and OCT4 expression in urogenital
            malignancies
  JOURNAL   Biochem Pharmacol 72 (11), 1577-1588 (2006)
   PUBMED   16854382
  REMARK    GeneRIF: The lack of hypomethylation in the CFCFL promoter
            reinforces evidence that 'genome-wide' hypomethylation is not
            random.
REFERENCE   7  (residues 1 to 422)
  AUTHORS   Hong JA, Kang Y, Abdullaev Z, Flanagan PT, Pack SD, Fischette MR,
            Adnani MT, Loukinov DI, Vatolin S, Risinger JI, Custer M, Chen GA,
            Zhao M, Nguyen DM, Barrett JC, Lobanenkov VV and Schrump DS.
  TITLE     Reciprocal binding of CTCF and BORIS to the NY-ESO-1 promoter
            coincides with derepression of this cancer-testis gene in lung
            cancer cells
  JOURNAL   Cancer Res 65 (17), 7763-7774 (2005)
   PUBMED   16140944
  REMARK    GeneRIF: Data indicate that reciprocal binding of CTCF and BORIS to
            the NY-ESO-1 promoter mediates epigenetic regulation of this CT
            gene in lung cancer cells.
REFERENCE   8  (residues 1 to 422)
  AUTHORS   Klenova EM, Morse HC 3rd, Ohlsson R and Lobanenkov VV.
  TITLE     The novel BORIS + CTCF gene family is uniquely involved in the
            epigenetics of normal biology and cancer
  JOURNAL   Semin Cancer Biol 12 (5), 399-414 (2002)
   PUBMED   12191639
  REMARK    Review article
REFERENCE   9  (residues 1 to 422)
  AUTHORS   Loukinov DI, Pugacheva E, Vatolin S, Pack SD, Moon H, Chernukhin I,
            Mannan P, Larsson E, Kanduri C, Vostrov AA, Cui H, Niemitz EL,
            Rasko JE, Docquier FM, Kistler M, Breen JJ, Zhuang Z, Quitschke WW,
            Renkawitz R, Klenova EM, Feinberg AP, Ohlsson R, Morse HC 3rd and
            Lobanenkov VV.
  TITLE     BORIS, a novel male germ-line-specific protein associated with
            epigenetic reprogramming events, shares the same 11-zinc-finger
            domain with CTCF, the insulator protein involved in reading
            imprinting marks in the soma
  JOURNAL   Proc Natl Acad Sci U S A 99 (10), 6806-6811 (2002)
   PUBMED   12011441
REFERENCE   10 (residues 1 to 422)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL035541.15 and AL160176.3.
            
            Summary: CCCTC-binding factor (CTCF), an 11-zinc-finger factor
            involved in gene regulation, utilizes different zinc fingers to
            bind varying DNA target sites. CTCF forms methylation-sensitive
            insulators that regulate X-chromosome inactivation. This gene is a
            paralog of CTCF and appears to be expressed primarily in the
            cytoplasm of spermatocytes, unlike CTCF which is expressed
            primarily in the nucleus of somatic cells. CTCF and the protein
            encoded by this gene are normally expressed in a mutually exclusive
            pattern that correlates with resetting of methylation marks during
            male germ cell differentiation. Multiple alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jun 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ778126.2 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968968,
                                           SAMEA2149178 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..422
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.31"
     Protein         1..422
                     /product="transcriptional repressor CTCFL isoform 10"
                     /note="cancer/testis antigen 27; brother of the regulator
                     of imprinted sites; BORIS-like protein"
                     /calculated_mol_wt=47957
     Region          <54..198
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          54..74
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(54,57,70,74)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(59,61,63,65..66,69..70,73,87,89,93..94,97..98,101,
                     115,117,119,121..122,125..126)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          82..102
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          110..128
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          139..159
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(139,142,155,159)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(144,146,148,150..151,154..155,158,172,174,178..179,
                     182..183,186,200,202,204,206..207,210..211)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          167..187
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <187..>227
                     /region_name="SUF4-like"
                     /note="N-terminal domain of Oryza sativa transcription
                     factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana
                     SUF4 (AtSUF4), and similar proteins; cd20908"
                     /db_xref="CDD:411020"
     Region          195..216
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          195..212
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          225..243
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          254..>287
                     /region_name="SUF4-like"
                     /note="N-terminal domain of Oryza sativa transcription
                     factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana
                     SUF4 (AtSUF4), and similar proteins; cd20908"
                     /db_xref="CDD:411020"
     Region          255..280
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          255..275
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(255,258,271,275)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(260,262,264,266..267,270..271,274,288,290,294..295,
                     298..299,302,316,318,320,322..323,326..327)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Site            order(260,266,273,279,282)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411020"
     Region          283..303
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          311..329
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..422
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /coded_by="NM_001269050.3:186..1454"
                     /note="isoform 10 is encoded by transcript variant 12"
                     /db_xref="CCDS:CCDS58777.1"
                     /db_xref="GeneID:140690"
                     /db_xref="HGNC:HGNC:16234"
                     /db_xref="MIM:607022"
ORIGIN      
        1 msgdersdei vltvsnsnve eqedqptagq adaekakstk nqrktkgakg tfhcdvcmft
       61 ssrmssfnrh mkthtsekph lchlclktfr tvtllrnhvn thtgtrpykc ndcnmafvts
      121 gelvrhrryk hthekpfkcs mckyasveas klkrhvrsht gerpfqccqc syasrdtykl
      181 krhmrthsge kpyechicht rftqsgtmki hilqkhgenv pkyqcphcat iiarksdlrv
      241 hmrnlhaysa aelkcrycsa vfheryaliq hqkthknekr fkckhcsyac kqerhmtahi
      301 rthtgekpft clscnkcfrq kqllnahfrk yhdanfiptv ykcskcgkgf srwilwvgns
      361 evaelggpgs gpllrlqsgc ppglhhpkag lgpedplpgq lrhttagtgl ssllqgplcr
      421 aa
//
LOCUS       NP_004094               1009 aa            linear   PRI 08-FEB-2023
DEFINITION  protein-tyrosine kinase 2-beta isoform a [Homo sapiens].
ACCESSION   NP_004094
VERSION     NP_004094.3
DBSOURCE    REFSEQ: accession NM_004103.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1009)
  AUTHORS   Padhy B, Kapuganti RS, Hayat B, Mohanty PP and Alone DP.
  TITLE     Wide-spread enhancer effect of SNP rs2279590 on regulating epoxide
            hydrolase-2 and protein tyrosine kinase 2-beta gene expression
  JOURNAL   Gene 854, 147096 (2023)
   PUBMED   36470481
  REMARK    GeneRIF: Wide-spread enhancer effect of SNP rs2279590 on regulating
            epoxide hydrolase-2 and protein tyrosine kinase 2-beta gene
            expression.
REFERENCE   2  (residues 1 to 1009)
  AUTHORS   Kumar R, Tiwari V and Dey S.
  TITLE     Role of proline-rich tyrosine kinase 2 (Pyk2) in the pathogenesis
            of Alzheimer's disease
  JOURNAL   Eur J Neurosci 56 (9), 5442-5452 (2022)
   PUBMED   34905657
  REMARK    GeneRIF: Role of proline-rich tyrosine kinase 2 (Pyk2) in the
            pathogenesis of Alzheimer's disease.
            Review article
REFERENCE   3  (residues 1 to 1009)
  AUTHORS   Zhang C, Zhu X, Li Y, Shao J, Xu H, Chen L, Dan Y, Jin H and He A.
  TITLE     High expression of PYK2 is associated with poor prognosis and
            cancer progression in early-stage cervical carcinoma
  JOURNAL   Medicine (Baltimore) 101 (41), e31178 (2022)
   PUBMED   36253980
  REMARK    GeneRIF: High expression of PYK2 is associated with poor prognosis
            and cancer progression in early-stage cervical carcinoma.
REFERENCE   4  (residues 1 to 1009)
  AUTHORS   Momi S, Canino J, Vismara M, Galgano L, Falcinelli E, Guglielmini
            G, Taranta GC, Guidetti GF, Gresele P, Torti M and Canobbio I.
  TITLE     Proline-rich tyrosine kinase Pyk2 regulates deep vein thrombosis
  JOURNAL   Haematologica 107 (6), 1374-1383 (2022)
   PUBMED   35142150
  REMARK    GeneRIF: Proline-rich tyrosine kinase Pyk2 regulates deep vein
            thrombosis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1009)
  AUTHORS   Gourley SL, Srikanth KD, Woon EP and Gil-Henn H.
  TITLE     Pyk2 Stabilizes Striatal Medium Spiny Neuron Structure and
            Striatal-Dependent Action
  JOURNAL   Cells 10 (12), 3442 (2021)
   PUBMED   34943950
  REMARK    GeneRIF: Pyk2 Stabilizes Striatal Medium Spiny Neuron Structure and
            Striatal-Dependent Action.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1009)
  AUTHORS   Avraham S, London R, Fu Y, Ota S, Hiregowdara D, Li J, Jiang S,
            Pasztor LM, White RA, Groopman JE et al.
  TITLE     Identification and characterization of a novel related adhesion
            focal tyrosine kinase (RAFTK) from megakaryocytes and brain
  JOURNAL   J Biol Chem 270 (46), 27742-27751 (1995)
   PUBMED   7499242
REFERENCE   7  (residues 1 to 1009)
  AUTHORS   Sasaki H, Nagura K, Ishino M, Tobioka H, Kotani K and Sasaki T.
  TITLE     Cloning and characterization of cell adhesion kinase beta, a novel
            protein-tyrosine kinase of the focal adhesion kinase subfamily
  JOURNAL   J Biol Chem 270 (36), 21206-21219 (1995)
   PUBMED   7673154
REFERENCE   8  (residues 1 to 1009)
  AUTHORS   Lev S, Moreno H, Martinez R, Canoll P, Peles E, Musacchio JM,
            Plowman GD, Rudy B and Schlessinger J.
  TITLE     Protein tyrosine kinase PYK2 involved in Ca(2+)-induced regulation
            of ion channel and MAP kinase functions
  JOURNAL   Nature 376 (6543), 737-745 (1995)
   PUBMED   7544443
REFERENCE   9  (residues 1 to 1009)
  AUTHORS   Calalb MB, Polte TR and Hanks SK.
  TITLE     Tyrosine phosphorylation of focal adhesion kinase at sites in the
            catalytic domain regulates kinase activity: a role for Src family
            kinases
  JOURNAL   Mol Cell Biol 15 (2), 954-963 (1995)
   PUBMED   7529876
REFERENCE   10 (residues 1 to 1009)
  AUTHORS   Coffer PJ and Woodgett JR.
  TITLE     Molecular cloning and characterisation of a novel putative
            protein-serine kinase related to the cAMP-dependent and protein
            kinase C families
  JOURNAL   Eur J Biochem 201 (2), 475-481 (1991)
   PUBMED   1718748
  REMARK    Erratum:[Eur J Biochem. 1992 May 1;205(3):1217. PMID: 1533586]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC036651.2, U43522.1, U33284.1,
            AL120380.1, AF311103.5 and AW130888.1.
            On Jan 24, 2003 this sequence version replaced NP_004094.2.
            
            Summary: This gene encodes a cytoplasmic protein tyrosine kinase
            which is involved in calcium-induced regulation of ion channels and
            activation of the map kinase signaling pathway. The encoded protein
            may represent an important signaling intermediate between
            neuropeptide-activated receptors or neurotransmitters that increase
            calcium flux and the downstream signals that regulate neuronal
            activity. The encoded protein undergoes rapid tyrosine
            phosphorylation and activation in response to increases in the
            intracellular calcium concentration, nicotinic acetylcholine
            receptor activation, membrane depolarization, or protein kinase C
            activation. This protein has been shown to bind CRK-associated
            substrate, nephrocystin, GTPase regulator associated with FAK, and
            the SH2 domain of GRB2. The encoded protein is a member of the FAK
            subfamily of protein tyrosine kinases but lacks significant
            sequence similarity to kinases from other subfamilies. Four
            transcript variants encoding two different isoforms have been found
            for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, and 3 all encode isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U43522.1, SRR1660803.13274.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1009
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.2"
     Protein         1..1009
                     /product="protein-tyrosine kinase 2-beta isoform a"
                     /EC_number="2.7.10.2"
                     /note="protein kinase B; cell adhesion kinase beta;
                     related adhesion focal tyrosine kinase; calcium-dependent
                     tyrosine kinase; proline-rich tyrosine kinase 2; focal
                     adhesion kinase 2; FADK 2; CAK-beta; calcium-regulated
                     non-receptor proline-rich tyrosine kinase; PTK2B protein
                     tyrosine kinase 2 beta"
                     /calculated_mol_wt=115744
     Region          39..137
                     /region_name="FERM_N_2"
                     /note="FERM N-terminal domain; pfam18038"
                     /db_xref="CDD:436229"
     Region          41..254
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          261..368
                     /region_name="FERM_C_FAK1"
                     /note="FERM domain C-lobe of Focal Adhesion Kinase 1 and
                     2; cd13190"
                     /db_xref="CDD:270011"
     Site            order(269,288,290,297)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270011"
     Site            order(302,307..310,345,349,352..353)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Site            345..356
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Site            361
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q14289.2)"
     Site            375
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14289.2)"
     Site            399
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q14289.2)"
     Site            402
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:11493697,
                     ECO:0000269|PubMed:15166227, ECO:0000269|PubMed:17329398,
                     ECO:0000269|PubMed:19207108, ECO:0000269|PubMed:20028775,
                     ECO:0000269|PubMed:20381867, ECO:0000269|PubMed:20521079;
                     propagated from UniProtKB/Swiss-Prot (Q14289.2)"
     Region          418..687
                     /region_name="PTKc_FAK"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Focal Adhesion Kinase; cd05056"
                     /db_xref="CDD:133187"
     Site            order(431..435,439,455,457,474,487,502..505,508..509,549,
                     553..554,556,567,584..588,597,631)
                     /site_type="active"
                     /db_xref="CDD:133187"
     Site            order(431..435,439,455,457,474,487,502..505,508..509,
                     553..554,556,567)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133187"
     Site            order(549,553,584..588,597,631)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133187"
     Site            566..590
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133187"
     Site            579
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q9QVP9; propagated from
                     UniProtKB/Swiss-Prot (Q14289.2)"
     Site            580
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by SRC, FYN and LCK.
                     /evidence=ECO:0000269|PubMed:20028775,
                     ECO:0000269|PubMed:20381867; propagated from
                     UniProtKB/Swiss-Prot (Q14289.2)"
     Site            order(597..601,635,639,664)
                     /site_type="other"
                     /note="FERM domain interface [polypeptide binding]"
                     /db_xref="CDD:133187"
     Region          701..725
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14289.2)"
     Site            722
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q14289.2)"
     Site            762
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q14289.2)"
     Site            765
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q14289.2)"
     Region          801..1009
                     /region_name="Interaction with TGFB1I1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14289.2)"
     Site            819
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q14289.2)"
     Site            834
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q14289.2)"
     Site            839
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q14289.2)"
     Site            842
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q14289.2)"
     Site            849
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q14289.2)"
     Site            866
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q14289.2)"
     Region          868..1009
                     /region_name="Focal adhesion targeting (FAT)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14289.2)"
     Region          872..1001
                     /region_name="Focal_AT"
                     /note="Focal adhesion targeting region; pfam03623"
                     /db_xref="CDD:427406"
     Site            881
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by SRC.
                     /evidence=ECO:0000269|PubMed:20521079; propagated from
                     UniProtKB/Swiss-Prot (Q14289.2)"
     CDS             1..1009
                     /gene="PTK2B"
                     /gene_synonym="CADTK; CAKB; FADK2; FAK2; PKB; PTK; PYK2;
                     RAFTK"
                     /coded_by="NM_004103.4:254..3283"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS6057.1"
                     /db_xref="GeneID:2185"
                     /db_xref="HGNC:HGNC:9612"
                     /db_xref="MIM:601212"
ORIGIN      
        1 msgvseplsr vklgtlrrpe gpaepmvvvp vdvekedvri lkvcfysnsf npgknfklvk
       61 ctvqteirei itsillsgri gpnirlaecy glrlkhmksd eihwlhpqmt vgevqdkyec
      121 lhveaewryd lqirylpedf meslkedrtt llyfyqqlrn dymqryaskv segmalqlgc
      181 lelrrffkdm phnaldkksn fellekevgl dlffpkqmqe nlkpkqfrkm iqqtfqqyas
      241 lreeecvmkf fntlagfani dqetyrceli qgwnitvdlv igpkgirqlt sqdakptcla
      301 efkqirsirc lpleegqavl qlgiegapqa lsiktsslae aenmadlidg ycrlqgehqg
      361 sliihprkdg ekrnslpqip mlnlearrsh lsescsiesd iyaeipdetl rrpggpqygi
      421 aredvvlnri lgegffgevy egvytnhkge kinvavktck kdctldnkek fmseavimkn
      481 ldhphivkli giieeeptwi imelypygel ghylernkns lkvltlvlys lqickamayl
      541 esincvhrdi avrnilvasp ecvklgdfgl sryiededyy kasvtrlpik wmspesinfr
      601 rfttasdvwm favcmweils fgkqpffwle nkdvigvlek gdrlpkpdlc ppvlytlmtr
      661 cwdydpsdrp rftelvcsls dvyqmekdia meqernaryr tpkileptaf qepppkpsrp
      721 kyrpppqtnl lapklqfqvp eglcassptl tspmeypspv nslhtpplhr hnvfkrhsmr
      781 eedfiqpssr eeaqqlweae kvkmrqildk qqkqmvedyq wlrqeeksld pmvymndksp
      841 ltpekevgyl eftgppqkpp rlgaqsiqpt anldrtddlv ylnvmelvra vlelknelcq
      901 lppegyvvvv knvgltlrkl igsvddllps lpsssrteie gtqkllnkdl aelinkmrla
      961 qqnavtslse eckrqmltas htlavdaknl ldavdqakvl anlahppae
//
LOCUS       NP_003744                548 aa            linear   PRI 12-FEB-2023
DEFINITION  eukaryotic translation initiation factor 3 subunit D [Homo
            sapiens].
ACCESSION   NP_003744
VERSION     NP_003744.1
DBSOURCE    REFSEQ: accession NM_003753.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 548)
  AUTHORS   Liu Q, Liu J, Zheng D, Zhang R, Xiang Y, Xu F, Zhou X and Qin J.
  TITLE     EIF3D promoted cervical carcinoma through Warburg effect by
            interacting with GRP78
  JOURNAL   J Obstet Gynaecol 43 (1), 2130200 (2023)
   PUBMED   36264610
  REMARK    GeneRIF: EIF3D promoted cervical carcinoma through Warburg effect
            by interacting with GRP78.
REFERENCE   2  (residues 1 to 548)
  AUTHORS   Zhong Y and Lan J.
  TITLE     Overexpression of Eukaryotic translation initiation factor 3D
            induces stem cell-like properties and metastasis in cervix cancer
            by activating FAK through inhibiting degradation of GRP78
  JOURNAL   Bioengineered 13 (1), 1952-1961 (2022)
   PUBMED   35104170
  REMARK    GeneRIF: Overexpression of Eukaryotic translation initiation factor
            3D induces stem cell-like properties and metastasis in cervix
            cancer by activating FAK through inhibiting degradation of GRP78.
REFERENCE   3  (residues 1 to 548)
  AUTHORS   Volta V, Perez-Baos S, de la Parra C, Katsara O, Ernlund A,
            Dornbaum S and Schneider RJ.
  TITLE     A DAP5/eIF3d alternate mRNA translation mechanism promotes
            differentiation and immune suppression by human regulatory T cells
  JOURNAL   Nat Commun 12 (1), 6979 (2021)
   PUBMED   34848685
  REMARK    GeneRIF: A DAP5/eIF3d alternate mRNA translation mechanism promotes
            differentiation and immune suppression by human regulatory T cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 548)
  AUTHORS   Li X, Wang Z, Liu G and Guo J.
  TITLE     EIF3D promotes the progression of preeclampsia by inhibiting of
            MAPK/ERK1/2 pathway
  JOURNAL   Reprod Toxicol 105, 166-174 (2021)
   PUBMED   34520790
  REMARK    GeneRIF: EIF3D promotes the progression of preeclampsia by
            inhibiting of MAPK/ERK1/2 pathway.
REFERENCE   5  (residues 1 to 548)
  AUTHORS   Jiang M, Lu Y, Duan D, Wang H, Man G, Kang C, Abulimiti K and Li Y.
  TITLE     Systematic Investigation of mRNA N6-Methyladenosine Machinery in
            Primary Prostate Cancer
  JOURNAL   Dis Markers 2020, 8833438 (2020)
   PUBMED   33273988
  REMARK    GeneRIF: Systematic Investigation of mRNA N (6)-Methyladenosine
            Machinery in Primary Prostate Cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 548)
  AUTHORS   Block KL, Vornlocher HP and Hershey JW.
  TITLE     Characterization of cDNAs encoding the p44 and p35 subunits of
            human translation initiation factor eIF3
  JOURNAL   J Biol Chem 273 (48), 31901-31908 (1998)
   PUBMED   9822659
REFERENCE   7  (residues 1 to 548)
  AUTHORS   Sizova DV, Kolupaeva VG, Pestova TV, Shatsky IN and Hellen CU.
  TITLE     Specific interaction of eukaryotic translation initiation factor 3
            with the 5' nontranslated regions of hepatitis C virus and
            classical swine fever virus RNAs
  JOURNAL   J Virol 72 (6), 4775-4782 (1998)
   PUBMED   9573242
REFERENCE   8  (residues 1 to 548)
  AUTHORS   Asano K, Vornlocher HP, Richter-Cook NJ, Merrick WC, Hinnebusch AG
            and Hershey JW.
  TITLE     Structure of cDNAs encoding human eukaryotic initiation factor 3
            subunits. Possible roles in RNA binding and macromolecular assembly
  JOURNAL   J Biol Chem 272 (43), 27042-27052 (1997)
   PUBMED   9341143
REFERENCE   9  (residues 1 to 548)
  AUTHORS   Methot N, Rom E, Olsen H and Sonenberg N.
  TITLE     The human homologue of the yeast Prt1 protein is an integral part
            of the eukaryotic initiation factor 3 complex and interacts with
            p170
  JOURNAL   J Biol Chem 272 (2), 1110-1116 (1997)
   PUBMED   8995410
REFERENCE   10 (residues 1 to 548)
  AUTHORS   Asano K, Kinzy TG, Merrick WC and Hershey JW.
  TITLE     Conservation and diversity of eukaryotic translation initiation
            factor eIF3
  JOURNAL   J Biol Chem 272 (2), 1101-1109 (1997)
   PUBMED   8995409
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BG718662.1 and BC014912.2.
            
            Summary: Eukaryotic translation initiation factor-3 (eIF3), the
            largest of the eIFs, is a multiprotein complex composed of at least
            ten nonidentical subunits. The complex binds to the 40S ribosome
            and helps maintain the 40S and 60S ribosomal subunits in a
            dissociated state. It is also thought to play a role in the
            formation of the 40S initiation complex by interacting with the
            ternary complex of eIF2/GTP/methionyl-tRNA, and by promoting mRNA
            binding. The protein encoded by this gene is the major RNA binding
            subunit of the eIF3 complex. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC000469.2, U54558.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216190.13/ ENSP00000216190.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..548
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     Protein         1..548
                     /product="eukaryotic translation initiation factor 3
                     subunit D"
                     /note="eukaryotic translation initiation factor 3, subunit
                     7 zeta, 66/67kDa; translation initiation factor eIF3 p66
                     subunit"
                     /calculated_mol_wt=63842
     Region          4..521
                     /region_name="eIF-3_zeta"
                     /note="Eukaryotic translation initiation factor 3 subunit
                     7 (eIF-3); pfam05091"
                     /db_xref="CDD:428300"
     Site            53
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O70194; propagated from
                     UniProtKB/Swiss-Prot (O15371.1)"
     Site            161
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O15371.1)"
     Region          285..299
                     /region_name="RNA gate.
                     /evidence=ECO:0000250|UniProtKB:K7IM66"
                     /note="propagated from UniProtKB/Swiss-Prot (O15371.1)"
     Region          523..548
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15371.1)"
     Site            528
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (O15371.1)"
     Site            529
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (O15371.1)"
     CDS             1..548
                     /gene="EIF3D"
                     /gene_synonym="eIF3-p66; eIF3-zeta; EIF3S7"
                     /coded_by="NM_003753.4:102..1748"
                     /db_xref="CCDS:CCDS13930.1"
                     /db_xref="GeneID:8664"
                     /db_xref="HGNC:HGNC:3278"
                     /db_xref="MIM:603915"
ORIGIN      
        1 makfmtpviq dnpsgwgpca vpeqfrdmpy qpfskgdrlg kvadwtgaty qdkrytnkys
       61 sqfgggsqya yfheedessf qlvdtartqk tayqrnrmrf aqrnlrrdkd rrnmlqfnlq
      121 ilpksakqke rerirlqkkf qkqfgvrqkw dqksqkprds svevrsdwev keemdfpqlm
      181 kmrylevsep qdieccgale yydkafdrit trsekplrsi krifhtvttt ddpvirklak
      241 tqgnvfatda ilatlmsctr svyswdivvq rvgsklffdk rdnsdfdllt vsetaneppq
      301 degnsfnspr nlameatyin hnfsqqclrm gkerynfpnp npfveddmdk neiasvayry
      361 rrwklgddid livrcehdgv mtgangevsf iniktlnewd srhcngvdwr qkldsqrgav
      421 iatelknnsy klarwtccal lagseylklg yvsryhvkds srhvilgtqq fkpnefasqi
      481 nlsvenawgi lrcvidicmk leegkylilk dpnkqvirvy slpdgtfssd edeeeeeeee
      541 eeeeeeet
//
LOCUS       NP_001171491             259 aa            linear   PRI 12-MAR-2023
DEFINITION  protein BEAN1 isoform 1 [Homo sapiens].
ACCESSION   NP_001171491
VERSION     NP_001171491.1
DBSOURCE    REFSEQ: accession NM_001178020.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 259)
  AUTHORS   Jiang K, Bai B, Ta Y, Zhang T, Xiao Z, Wang PG and Zhang L.
  TITLE     O-GlcNAc regulates NEDD4-1 stability via caspase-mediated pathway
  JOURNAL   Biochem Biophys Res Commun 471 (4), 539-544 (2016)
   PUBMED   26876577
  REMARK    GeneRIF: this study reveals a regulation mechanism of NEDD4-1
            stability by O-GlcNAcylation.
REFERENCE   2  (residues 1 to 259)
  AUTHORS   Niimi Y, Takahashi M, Sugawara E, Umeda S, Obayashi M, Sato N,
            Ishiguro T, Higashi M, Eishi Y, Mizusawa H and Ishikawa K.
  TITLE     Abnormal RNA structures (RNA foci) containing a penta-nucleotide
            repeat (UGGAA)n in the Purkinje cell nucleus is associated with
            spinocerebellar ataxia type 31 pathogenesis
  JOURNAL   Neuropathology 33 (6), 600-611 (2013)
   PUBMED   23607545
  REMARK    GeneRIF: we conclude that the RNA foci containing BEAN1-direction
            transcript (UGGAA)n are associated with Purkinje cell degeneration
            in Spinocerebellar ataxia type 31
REFERENCE   3  (residues 1 to 259)
  AUTHORS   Lee YC, Liu CS, Lee TY, Lo YC, Lu YC and Soong BW.
  TITLE     SCA31 is rare in the Chinese population on Taiwan
  JOURNAL   Neurobiol Aging 33 (2), 426 (2012)
   PUBMED   21163552
  REMARK    GeneRIF: Our data indicate that SCA31 is absent or rare in the
            Chinese population on Taiwan.
REFERENCE   4  (residues 1 to 259)
  AUTHORS   Ishikawa K, Durr A, Klopstock T, Muller S, De Toffol B, Vidailhet
            M, Vighetto A, Marelli C, Wichmann HE, Illig T, Niimi Y, Sato N,
            Amino T, Stevanin G, Brice A and Mizusawa H.
  TITLE     Pentanucleotide repeats at the spinocerebellar ataxia type 31
            (SCA31) locus in Caucasians
  JOURNAL   Neurology 77 (20), 1853-1855 (2011)
   PUBMED   22049201
  REMARK    GeneRIF: This study describes the structure of SCA31
            pentanucleotide repeat sequences in a cohort of Caucasian patients
            with spinocerebellar ataxia.
REFERENCE   5  (residues 1 to 259)
  AUTHORS   Durr A.
  TITLE     Autosomal dominant cerebellar ataxias: polyglutamine expansions and
            beyond
  JOURNAL   Lancet Neurol 9 (9), 885-894 (2010)
   PUBMED   20723845
  REMARK    Review article
REFERENCE   6  (residues 1 to 259)
  AUTHORS   Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T,
            Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y,
            Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu
            N, Toda T, Ishikawa K and Mizusawa H.
  TITLE     Spinocerebellar ataxia type 31 is associated with 'inserted'
            penta-nucleotide repeats containing (TGGAA)n
  JOURNAL   Am J Hum Genet 85 (5), 544-557 (2009)
   PUBMED   19878914
  REMARK    GeneRIF: SCA31 is associated with 'inserted' pentanucleotide
            repeats containing (TGGAA)n.
REFERENCE   7  (residues 1 to 259)
  AUTHORS   Jolliffe CN, Harvey KF, Haines BP, Parasivam G and Kumar S.
  TITLE     Identification of multiple proteins expressed in murine embryos as
            binding partners for the WW domains of the ubiquitin-protein ligase
            Nedd4
  JOURNAL   Biochem J 351 Pt 3 (Pt 3), 557-565 (2000)
   PUBMED   11042109
REFERENCE   8  (residues 1 to 259)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC132186.3, AB472395.1,
            AB472390.1, BC105723.1 and BM666201.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is one of several
            proteins that interact with NEDD4, a member of a family of
            ubiquitin-protein ligases. These proteins have PY motifs in common
            that bind to the WW domains of NEDD4. NEDD4 is developmentally
            regulated, and is highly expressed in embryonic tissues. Mutations
            in this gene (i.e., intronic insertions of >100 copies of
            pentanucleotide repeats including a (TGGAA)n sequence) are
            associated with spinocerebellar ataxia type 31. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB472390.1, SRR7410570.624659.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147975, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000536005.7/ ENSP00000442793.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..259
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q21"
     Protein         1..259
                     /product="protein BEAN1 isoform 1"
                     /note="protein BEAN1; brain-expressed protein associating
                     with Nedd4 homolog"
                     /calculated_mol_wt=28495
     Site            36..56
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3B7T3.2)"
     Region          71..91
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3B7T3.2)"
     Region          152..259
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3B7T3.2)"
     CDS             1..259
                     /gene="BEAN1"
                     /gene_synonym="BEAN; SCA31"
                     /coded_by="NM_001178020.3:220..999"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS54015.1"
                     /db_xref="GeneID:146227"
                     /db_xref="HGNC:HGNC:24160"
                     /db_xref="MIM:612051"
ORIGIN      
        1 msfkrpcpla rynrtsyfyp tfsessehsh llvspvlvas avigvviils citiivgsir
       61 rdrqarlqrh rhrhhrhhhh hhhhrrrrhr eyehgyvsde htysrssrrm ryacsssedw
      121 pppldissdg dvdatvlrel ypdsppgyee cvgpgatqly vptdapppys ltdscptldg
      181 tsdsgsghsp grhqqeqrtp aqgglhtvsm dtlppyeavc gagppsgllp lpgpdpgprg
      241 sqgsptptra pasgperiv
//
LOCUS       NP_001356802            1082 aa            linear   PRI 13-MAR-2023
DEFINITION  tight junction protein ZO-2 isoform 9 [Homo sapiens].
ACCESSION   NP_001356802
VERSION     NP_001356802.1
DBSOURCE    REFSEQ: accession NM_001369873.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1082)
  AUTHORS   Gallego-Gutierrez H, Gonzalez-Gonzalez L, Ramirez-Martinez L,
            Lopez-Bayghen E and Gonzalez-Mariscal L.
  TITLE     Tight junction protein ZO-2 modulates the nuclear accumulation of
            transcription factor TEAD
  JOURNAL   Mol Biol Cell 32 (15), 1347-1358 (2021)
   PUBMED   34010016
  REMARK    GeneRIF: Tight junction protein ZO-2 modulates the nuclear
            accumulation of transcription factor TEAD.
REFERENCE   2  (residues 1 to 1082)
  AUTHORS   Wei CS, Becher N, Friis JB, Ott P, Vogel I and Gronbaek H.
  TITLE     New tight junction protein 2 variant causing progressive familial
            intrahepatic cholestasis type 4 in adults: A case report
  JOURNAL   World J Gastroenterol 26 (5), 550-561 (2020)
   PUBMED   32089630
  REMARK    GeneRIF: New tight junction protein 2 variant causing progressive
            familial intrahepatic cholestasis type 4 in adults: A case report.
REFERENCE   3  (residues 1 to 1082)
  AUTHORS   Zhang J, Liu LL, Gong JY, Hao CZ, Qiu YL, Lu Y, Feng JY, Li JQ, Li
            ZD, Wang MX, Xing QH, Knisely AS and Wang JS.
  TITLE     TJP2 hepatobiliary disorders: Novel variants and clinical diversity
  JOURNAL   Hum Mutat 41 (2), 502-511 (2020)
   PUBMED   31696999
  REMARK    GeneRIF: TJP2 hepatobiliary disorders: Novel variants and clinical
            diversity.
REFERENCE   4  (residues 1 to 1082)
  AUTHORS   Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O,
            Shahin H, Roeb W, McCarthy S, Nord AS, Gordon CR, Ben-Neriah Z,
            Sebat J, Kanaan M, Lee MK, Frydman M, King MC and Avraham KB.
  TITLE     Genomic duplication and overexpression of TJP2/ZO-2 leads to
            altered expression of apoptosis genes in progressive nonsyndromic
            hearing loss DFNA51
  JOURNAL   Am J Hum Genet 87 (1), 101-109 (2010)
   PUBMED   20602916
  REMARK    GeneRIF: TJP2- and GSK-3beta-mediated increased susceptibility to
            apoptosis of cells of the inner ear is the mechanism for
            adult-onset hearing loss in this kindred and may serve as one model
            for age-related hearing loss in the general population.
REFERENCE   5  (residues 1 to 1082)
  AUTHORS   Itoh M, Morita K and Tsukita S.
  TITLE     Characterization of ZO-2 as a MAGUK family member associated with
            tight as well as adherens junctions with a binding affinity to
            occludin and alpha catenin
  JOURNAL   J Biol Chem 274 (9), 5981-5986 (1999)
   PUBMED   10026224
REFERENCE   6  (residues 1 to 1082)
  AUTHORS   Denker BM and Nigam SK.
  TITLE     Molecular structure and assembly of the tight junction
  JOURNAL   Am J Physiol 274 (1), F1-F9 (1998)
   PUBMED   9458817
  REMARK    Review article
REFERENCE   7  (residues 1 to 1082)
  AUTHORS   Beatch M, Jesaitis LA, Gallin WJ, Goodenough DA and Stevenson BR.
  TITLE     The tight junction protein ZO-2 contains three PDZ
            (PSD-95/Discs-Large/ZO-1) domains and an alternatively spliced
            region
  JOURNAL   J Biol Chem 271 (42), 25723-25726 (1996)
   PUBMED   8824195
REFERENCE   8  (residues 1 to 1082)
  AUTHORS   Duclos F, Rodius F, Wrogemann K, Mandel JL and Koenig M.
  TITLE     The Friedreich ataxia region: characterization of two novel genes
            and reduction of the critical region to 300 kb
  JOURNAL   Hum Mol Genet 3 (6), 909-914 (1994)
   PUBMED   7951235
REFERENCE   9  (residues 1 to 1082)
  AUTHORS   Amendola,M. and Squires,J.E.
  TITLE     Pediatric Genetic Cholestatic Liver Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36108118
REFERENCE   10 (residues 1 to 1082)
  AUTHORS   Shearer,A.E., Hildebrand,M.S. and Smith,R.J.H.
  TITLE     Hereditary Hearing Loss and Deafness Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL358113.21.
            
            Summary: This gene encodes a zonula occluden that is a member of
            the membrane-associated guanylate kinase homolog family. The
            encoded protein functions as a component of the tight junction
            barrier in epithelial and endothelial cells and is necessary for
            proper assembly of tight junctions. Mutations in this gene have
            been identified in patients with hypercholanemia, and genomic
            duplication of a 270 kb region including this gene causes autosomal
            dominant deafness-51. Alternatively spliced transcripts encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, Nov 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.128305.1,
                                           SRR1803616.141272.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1082
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.11"
     Protein         1..1082
                     /product="tight junction protein ZO-2 isoform 9"
                     /note="Friedreich ataxia region gene X104 (tight junction
                     protein ZO-2); zona occludens 2; zonula occludens protein
                     2"
                     /calculated_mol_wt=121856
     Site            16
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Region          32..117
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(43..46,48,101..102,105..106)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Site            130
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Region          144..>226
                     /region_name="U2AF_lg"
                     /note="U2 snRNP auxilliary factor, large subunit, splicing
                     factor; TIGR01642"
                     /db_xref="CDD:273727"
     Site            150
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Region          152..306
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            153
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            163
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0U1; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            168
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            170
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            174
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Region          183..>274
                     /region_name="SF-CC1"
                     /note="splicing factor, CC1-like family; TIGR01622"
                     /db_xref="CDD:273721"
     Site            200
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            220
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            232
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            244
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            266
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Region          299..382
                     /region_name="PDZ"
                     /note="PDZ domain (Also known as DHR or GLGF); pfam00595"
                     /db_xref="CDD:395476"
     Site            order(318..321,323,366..367,370..371)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Site            325
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            398
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0U1; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            400
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            406
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Region          408..506
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            415
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            424
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            430
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            431
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            455
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Site            499
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Region          510..587
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(520..523,525,571..572,575..576)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Site            574
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0U1; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     Region          604..666
                     /region_name="SH3_ZO-2"
                     /note="Src homology 3 domain of the Tight junction
                     protein, Zonula occludens protein 2; cd12027"
                     /db_xref="CDD:212960"
     Site            order(613,615,618,622,643..644,660,662..663)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212960"
     Region          700..879
                     /region_name="GuKc"
                     /note="Guanylate kinase homologues; smart00072"
                     /db_xref="CDD:214504"
     Site            702
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9UDY2.2)"
     CDS             1..1082
                     /gene="TJP2"
                     /gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; FHCA1;
                     PFIC4; X104; ZO2"
                     /coded_by="NM_001369873.1:97..3345"
                     /note="isoform 9 is encoded by transcript variant 9"
                     /db_xref="GeneID:9414"
                     /db_xref="HGNC:HGNC:11828"
                     /db_xref="MIM:607709"
ORIGIN      
        1 mpvrgdrgfp prrelsgwlr apgmeeliwe qytvtlqkds krgfgiavsg grdnphfeng
       61 etsivisdvl pggpadgllq endrvvmvng tpmedvlhsf avqqlrksgk vaaivvkrpr
      121 kvqvaalqas ppldqddraf evmdefdgrs frsgysersr lnshggrsrs wedspergrp
      181 herarsrerd lsrdrsrgrs lergldqdha rtrdrsrgrs lergldhdfg psrdrdrdrs
      241 rgrsidqdye rayhraydpd yerayspeyr rgarhdarsr gprsrsrehp hsrspspepr
      301 grpgpigvll mksraneeyg lrlgsqifvk emtrtglatk dgnlhegdii lkingtvten
      361 msltdarkli eksrgklqlv vlrdsqqtli nipslndsds eiediseies nrsfspeerr
      421 hqysdydyhs sseklkerps sredtpsrls rmgatptpfk stgdiagtvv petnkepryq
      481 edppapqpka aprtflrpsp edeaiygpnt kmvrfkkgds vglrlaggnd vgifvagiqe
      541 gtsaeqeglq egdqilkvnt qdfrglvred avlylleipk gemvtilaqs radvyrdila
      601 cgrgdsffir shfeceketp qslaftrgev frvvdtlydg klgnwlavri gnelekglip
      661 nksraeqmas vqnaqrdnag dradfwrmrg qrsgvkknlr ksredltavv svstkfpaye
      721 rvllreagfk rpvvlfgpia diameklane lpdwfqtakt epkdagseks tgvvrlntvr
      781 qiieqdkhal ldvtpkavdl lnytqwfpiv iffnpdsrqg vktmrqrlnp tsnkssrklf
      841 dqanklkktc ahlftatinl nsandswfgs lkdtiqhqqg eavwvsegka ktqnkeesyd
      901 fsksyeyksn psavagnetp gastkgyppp vaakptfgrs ilkpstpipp qegeevgess
      961 eeqdnapksv lgkvkifekm dhkarlqrmq elqeaqnari eiaqkhpdiy avpikthkpd
     1021 pgtpqhtssr ppepqkapsr pyqdtrgsyg sdaeeeeyrq qlsehskrgy ygqsaryrdt
     1081 el
//
LOCUS       NP_001361707             403 aa            linear   PRI 17-MAR-2023
DEFINITION  ferrochelatase, mitochondrial isoform e [Homo sapiens].
ACCESSION   NP_001361707
VERSION     NP_001361707.1
DBSOURCE    REFSEQ: accession NM_001374778.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 403)
  AUTHORS   Lanzafame M, Branca G, Landi C, Qiang M, Vaz B, Nardo T, Ferri D,
            Mura M, Iben S, Stefanini M, Peverali FA, Bini L and Orioli D.
  TITLE     Cockayne syndrome group A and ferrochelatase finely tune ribosomal
            gene transcription and its response to UV irradiation
  JOURNAL   Nucleic Acids Res 49 (19), 10911-10930 (2021)
   PUBMED   34581821
  REMARK    GeneRIF: Cockayne syndrome group A and ferrochelatase finely tune
            ribosomal gene transcription and its response to UV irradiation.
REFERENCE   2  (residues 1 to 403)
  AUTHORS   Khayer N, Jalessi M, Jahanbakhshi A, Tabib Khooei A and Mirzaie M.
  TITLE     Nkx3-1 and Fech genes might be switch genes involved in pituitary
            non-functioning adenoma invasiveness
  JOURNAL   Sci Rep 11 (1), 20943 (2021)
   PUBMED   34686726
  REMARK    GeneRIF: Nkx3-1 and Fech genes might be switch genes involved in
            pituitary non-functioning adenoma invasiveness.
            Erratum:[Sci Rep. 2021 Dec 14;11(1):24258. PMID: 34907222]
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 403)
  AUTHORS   Saito A, Okiyama N, Inoue S, Kubota N, Nakamura Y, Ishitsuka Y,
            Watanabe R, Nakano H and Fujisawa Y.
  TITLE     Novel mutation of the ferrochelatase gene in a Japanese family with
            erythropoietic protoporphyria
  JOURNAL   J Dermatol 47 (4), e114-e116 (2020)
   PUBMED   32056258
  REMARK    GeneRIF: Novel mutation of the ferrochelatase gene in a Japanese
            family with erythropoietic protoporphyria.
REFERENCE   4  (residues 1 to 403)
  AUTHORS   Chiara M, Primon I, Tarantini L, Agnelli L, Brancaleoni V, Granata
            F, Bollati V and Di Pierro E.
  TITLE     Targeted resequencing of FECH locus reveals that a novel deep
            intronic pathogenic variant and eQTLs may cause erythropoietic
            protoporphyria (EPP) through a methylation-dependent mechanism
  JOURNAL   Genet Med 22 (1), 35-43 (2020)
   PUBMED   31273344
  REMARK    GeneRIF: Study reports evidence of a deep intronic variant causing
            erythropoietic protoporphyria. The c.464-1169 A>C intronic
            substitution (p.Ala155ValfsTer22) disrupts, likely through the
            institution of new methylated CpG site, an exonic splicing silencer
            site causing the insertion of a 'cryptic exon' containing a stop
            codon, in the mature FECH transcript.
REFERENCE   5  (residues 1 to 403)
  AUTHORS   Balwani M, Bloomer J and Desnick R.
  CONSRTM   Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical
            Research Network
  TITLE     Erythropoietic Protoporphyria, Autosomal Recessive
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23016163
REFERENCE   6  (residues 1 to 403)
  AUTHORS   Brenner DA, Didier JM, Frasier F, Christensen SR, Evans GA and
            Dailey HA.
  TITLE     A molecular defect in human protoporphyria
  JOURNAL   Am J Hum Genet 50 (6), 1203-1210 (1992)
   PUBMED   1376018
REFERENCE   7  (residues 1 to 403)
  AUTHORS   Nakahashi Y, Fujita H, Taketani S, Ishida N, Kappas A and Sassa S.
  TITLE     The molecular defect of ferrochelatase in a patient with
            erythropoietic protoporphyria
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 281-285 (1992)
   PUBMED   1729699
REFERENCE   8  (residues 1 to 403)
  AUTHORS   Nakahashi Y, Taketani S, Okuda M, Inoue K and Tokunaga R.
  TITLE     Molecular cloning and sequence analysis of cDNA encoding human
            ferrochelatase
  JOURNAL   Biochem Biophys Res Commun 173 (2), 748-755 (1990)
   PUBMED   2260980
REFERENCE   9  (residues 1 to 403)
  AUTHORS   Buller,R.E., Schrader,W.T. and O'Maller,B.W.
  TITLE     Steroids and the practical aspects of performing binding studies
  JOURNAL   J Steroid Biochem 7 (5), 321-326 (1976)
   PUBMED   180343
REFERENCE   10 (residues 1 to 403)
  AUTHORS   Bonkowsky,H.L., Bloomer,J.R., Ebert,P.S. and Mahoney,M.J.
  TITLE     Heme synthetase deficiency in human protoporphyria. Demonstration
            of the defect in liver and cultured skin fibroblasts
  JOURNAL   J Clin Invest 56 (5), 1139-1148 (1975)
   PUBMED   1184741
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC100847.2.
            
            Summary: The protein encoded by this gene is localized to the
            mitochondrion, where it catalyzes the insertion of the ferrous form
            of iron into protoporphyrin IX in the heme synthesis pathway.
            Mutations in this gene are associated with erythropoietic
            protoporphyria. Two transcript variants encoding different isoforms
            have been found for this gene. A pseudogene of this gene is found
            on chromosome 3.[provided by RefSeq, May 2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.3329808.1,
                                           SRR14038193.1748975.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..403
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.31"
     Protein         1..403
                     /product="ferrochelatase, mitochondrial isoform e"
                     /EC_number="4.98.1.1"
                     /note="protoporphyria; protoheme ferro-lyase; heme
                     synthetase; ferrochelatase, mitochondrial; heme synthase"
                     /calculated_mol_wt=45545
     Region          69..369
                     /region_name="Ferrochelatase"
                     /note="pfam00762"
                     /db_xref="CDD:425856"
     CDS             1..403
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
                     /coded_by="NM_001374778.1:83..1294"
                     /note="isoform e is encoded by transcript variant 5"
                     /db_xref="GeneID:2235"
                     /db_xref="HGNC:HGNC:3647"
                     /db_xref="MIM:612386"
ORIGIN      
        1 mrslganmaa alraagvllr dplassswrv cqpwrwksga aaaavtteta qhaqgakpqv
       61 qpqkrkpktg ilmlnmggpe tlgdvhdfll rlfldrdlmt lpiqnklapf iakrrtpkiq
      121 eqyrrigggs pikiwtskqg egmvklldel spntaphkyy igfryvhplt eeaieemerd
      181 gleraiaftq ypqyscsttg sslnaiyryy nqvgrkptmk wstidrwpth hlliqcfadh
      241 ilkeldhfpl ekrsevvilf sahslpmsvv nrgdpypqev satvqkvmer leycnpyrlv
      301 wqskvgpmpw lgpqtdesik glcergrkni llvpiaftsd hietlyeldi eysqvlakea
      361 ladlvhshiq snelcskqlt lscplcvnpv cretksffts qql
//
LOCUS       NP_001245371             299 aa            linear   PRI 20-MAR-2023
DEFINITION  B-cell linker protein isoform 5 [Homo sapiens].
ACCESSION   NP_001245371
VERSION     NP_001245371.1
DBSOURCE    REFSEQ: accession NM_001258442.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 299)
  AUTHORS   Liu X, Chipurupalli S, Jiang P, Tavasoli M, Yoo BH, McPhee M,
            Mazinani S, Francia G, Kerbel RS and Rosen KV.
  TITLE     ErbB2/Her2-dependent downregulation of a cell death-promoting
            protein BLNK in breast cancer cells is required for 3D breast tumor
            growth
  JOURNAL   Cell Death Dis 13 (8), 687 (2022)
   PUBMED   35933456
  REMARK    GeneRIF: ErbB2/Her2-dependent downregulation of a cell
            death-promoting protein BLNK in breast cancer cells is required for
            3D breast tumor growth.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 299)
  AUTHORS   Kurata M, Onishi I, Takahara T, Yamazaki Y, Ishibashi S, Goitsuka
            R, Kitamura D, Takita J, Hayashi Y, Largaesapda DA, Kitagawa M and
            Nakamura T.
  TITLE     C/EBPbeta induces B-cell acute lymphoblastic leukemia and
            cooperates with BLNK mutations
  JOURNAL   Cancer Sci 112 (12), 4920-4930 (2021)
   PUBMED   34653294
  REMARK    GeneRIF: C/EBPbeta induces B-cell acute lymphoblastic leukemia and
            cooperates with BLNK mutations.
REFERENCE   3  (residues 1 to 299)
  AUTHORS   Cheng Y, Li F, Zhang WS, Zou GY and Shen YX.
  TITLE     Silencing BLNK protects against interleukin-1beta-induced
            chondrocyte injury through the NF-kappaB signaling pathway
  JOURNAL   Cytokine 148, 155686 (2021)
   PUBMED   34521030
  REMARK    GeneRIF: Silencing BLNK protects against interleukin-1beta-induced
            chondrocyte injury through the NF-kappaB signaling pathway.
REFERENCE   4  (residues 1 to 299)
  AUTHORS   Zhang P, Wang Y, Qin M, Li D, Odhiambo WO, Yuan M, Lv Z, Liu C, Ma
            Y, Dong Y and Ji Y.
  TITLE     Involvement of Blnk and Foxo1 in tumor suppression in
            BCR-ABL1-transformed pro-B cells
  JOURNAL   Oncol Rep 45 (2), 693-705 (2021)
   PUBMED   33416167
  REMARK    GeneRIF: Involvement of Blnk and Foxo1 in tumor suppression in
            BCRABL1transformed proB cells.
REFERENCE   5  (residues 1 to 299)
  AUTHORS   Li N, Wu J, Wu Y, Xu Y, Yao R, Li G, Zhang J, Zhou Y, Yin L, Yin Y,
            Yu T and Wang J.
  TITLE     Further delineation of primary B cell immunodeficiency caused by
            novel variants of the BLNK gene in two Chinese patients
  JOURNAL   Clin Immunol 214, 108387 (2020)
   PUBMED   32194234
  REMARK    GeneRIF: Further delineation of primary B cell immunodeficiency
            caused by novel variants of the BLNK gene in two Chinese patients.
REFERENCE   6  (residues 1 to 299)
  AUTHORS   Su YW, Zhang Y, Schweikert J, Koretzky GA, Reth M and Wienands J.
  TITLE     Interaction of SLP adaptors with the SH2 domain of Tec family
            kinases
  JOURNAL   Eur J Immunol 29 (11), 3702-3711 (1999)
   PUBMED   10556826
REFERENCE   7  (residues 1 to 299)
  AUTHORS   Hashimoto S, Iwamatsu A, Ishiai M, Okawa K, Yamadori T, Matsushita
            M, Baba Y, Kishimoto T, Kurosaki T and Tsukada S.
  TITLE     Identification of the SH2 domain binding protein of Bruton's
            tyrosine kinase as BLNK--functional significance of Btk-SH2 domain
            in B-cell antigen receptor-coupled calcium signaling
  JOURNAL   Blood 94 (7), 2357-2364 (1999)
   PUBMED   10498607
REFERENCE   8  (residues 1 to 299)
  AUTHORS   Wienands J, Schweikert J, Wollscheid B, Jumaa H, Nielsen PJ and
            Reth M.
  TITLE     SLP-65: a new signaling component in B lymphocytes which requires
            expression of the antigen receptor for phosphorylation
  JOURNAL   J Exp Med 188 (4), 791-795 (1998)
   PUBMED   9705962
REFERENCE   9  (residues 1 to 299)
  AUTHORS   Fu C, Turck CW, Kurosaki T and Chan AC.
  TITLE     BLNK: a central linker protein in B cell activation
  JOURNAL   Immunity 9 (1), 93-103 (1998)
   PUBMED   9697839
REFERENCE   10 (residues 1 to 299)
  AUTHORS   Fu C and Chan AC.
  TITLE     Identification of two tyrosine phosphoproteins, pp70 and pp68,
            which interact with phospholipase Cgamma, Grb2, and Vav after B
            cell antigen receptor activation
  JOURNAL   J Biol Chem 272 (43), 27362-27368 (1997)
   PUBMED   9341187
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021037.6, DA045252.1,
            AM180327.1 and AI307343.1.
            
            Summary: This gene encodes a cytoplasmic linker or adaptor protein
            that plays a critical role in B cell development. This protein
            bridges B cell receptor-associated kinase activation with
            downstream signaling pathways, thereby affecting various biological
            functions. The phosphorylation of five tyrosine residues is
            necessary for this protein to nucleate distinct signaling effectors
            following B cell receptor activation. Mutations in this gene cause
            hypoglobulinemia and absent B cells, a disease in which the pro- to
            pre-B-cell transition is developmentally blocked. Deficiency in
            this protein has also been shown in some cases of pre-B acute
            lymphoblastic leukemia. Alternatively spliced transcript variants
            have been found for this gene. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (5) lacks 3 in-frame exons in the
            mid- and 3' coding regions, and uses alternate in-frame donor and
            acceptor splice sites compared to variant 1, resulting in a shorter
            isoform (5) compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AM180327.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..299
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.1"
     Protein         1..299
                     /product="B-cell linker protein isoform 5"
                     /note="B-cell linker protein; B-cell adapter containing a
                     Src homology 2 domain protein; Src homology 2
                     domain-containing leukocyte protein of 65 kDa; B-cell
                     adapter containing a SH2 domain protein; cytoplasmic
                     adapter protein; B-cell activation; B cell adaptor
                     containing SH2 domain; Src homology [SH2]
                     domain-containing leukocyte protein of 65 kD"
                     /calculated_mol_wt=32867
     Site            72
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by SYK.
                     /evidence=ECO:0000269|PubMed:12456653; propagated from
                     UniProtKB/Swiss-Prot (Q8WV28.2)"
     Site            84
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by SYK.
                     /evidence=ECO:0000269|PubMed:12456653; propagated from
                     UniProtKB/Swiss-Prot (Q8WV28.2)"
     Site            96
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by SYK.
                     /evidence=ECO:0000269|PubMed:12456653; propagated from
                     UniProtKB/Swiss-Prot (Q8WV28.2)"
     Region          231..297
                     /region_name="SH2"
                     /note="Src homology 2 (SH2) domain; cl15255"
                     /db_xref="CDD:449520"
     CDS             1..299
                     /gene="BLNK"
                     /gene_synonym="AGM4; BASH; bca; BLNK-S; LY57; SLP-65;
                     SLP65"
                     /coded_by="NM_001258442.2:172..1071"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS73171.1"
                     /db_xref="GeneID:29760"
                     /db_xref="HGNC:HGNC:14211"
                     /db_xref="MIM:604515"
ORIGIN      
        1 mdklnkitvp asqklrqlqk mvhdiknneg gimnkikklk vkappsvprr dyasespade
       61 eeqwsddfds dyenpdehsd semyvmpaee naddsyeppp veqetrpvhp alpfargtas
      121 grnsgawetk spppaapspl pragkkpttp lkttpvasqq nassvceekp ipaerhrgss
      181 hrqeavqspv fppaqkqihq kpiplprfte ggnptvdgpl psfssnstis eqeagvlckp
      241 wyagacdrks aeealhrsnk yfgsvaeiir nhqhsplvli dsqnntkdst rlkyavkvs
//
LOCUS       XP_047286738             211 aa            linear   PRI 20-MAR-2023
DEFINITION  mitotic spindle assembly checkpoint protein MAD2B isoform X1 [Homo
            sapiens].
ACCESSION   XP_047286738
VERSION     XP_047286738.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430782.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..211
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..211
                     /product="mitotic spindle assembly checkpoint protein
                     MAD2B isoform X1"
                     /calculated_mol_wt=24203
     Region          21..>103
                     /region_name="HORMA"
                     /note="HORMA domain; pfam02301"
                     /db_xref="CDD:426710"
     CDS             1..211
                     /gene="MAD2L2"
                     /gene_synonym="FANCV; MAD2B; POLZ2; REV7"
                     /coded_by="XM_047430782.1:92..727"
                     /db_xref="GeneID:10459"
                     /db_xref="HGNC:HGNC:6764"
                     /db_xref="MIM:604094"
ORIGIN      
        1 mttltrqdln fgqvvadvlc eflevavhli lyvrevypvg ifqkrkkynv pvqmschpel
       61 nqyiqdtlhc vkpllekndv ekvvvvildk ehrpvekfvf eitqppllsi ssdsllshve
      121 qllrafilki svcdavldhn ppgctftvlv htreaatrnm ekiqvikdfp wiladeqdvh
      181 mhdprliplk tmtsdilkmq lyveerahkg s
//
LOCUS       XP_047272525            1105 aa            linear   PRI 20-MAR-2023
DEFINITION  polyamine-transporting ATPase 13A2 isoform X38 [Homo sapiens].
ACCESSION   XP_047272525
VERSION     XP_047272525.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416569.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1105
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1105
                     /product="polyamine-transporting ATPase 13A2 isoform X38"
                     /calculated_mol_wt=120704
     Region          39..1042
                     /region_name="P-ATPase-V"
                     /note="P-type ATPase of unknown pump specificity (type V);
                     TIGR01657"
                     /db_xref="CDD:273738"
     CDS             1..1105
                     /gene="ATP13A2"
                     /gene_synonym="CLN12; HSA9947; KRPPD; PARK9; SPG78"
                     /coded_by="XM_047416569.1:191..3508"
                     /db_xref="GeneID:23400"
                     /db_xref="HGNC:HGNC:30213"
                     /db_xref="MIM:610513"
ORIGIN      
        1 msadssplvg stptgygtlt igtsidplss svssvrlsgy cgspwrvigy hvvvwmmagi
       61 plllfrwkpl wgvrlrlrpc nlahaetlvi eirdkedssw qlftvqvqte aigegsleps
      121 pqsqaedgrs qaavgavpeg awkdtaqlhk seearvlryy lfqgqryiwi etqqafyqvs
      181 lldhgrscdd vhrsrhglsl qdqmvrkaiy gpnvisipvk sypqllvdea lnpyygfqaf
      241 sialwladhy ywyalcifli ssisiclsly ktrkqsqtlr dmvklsmrvc vcrpggeeew
      301 vdsselvpgd clvlpqeggl mpcdaalvag ecmvnesslt gesipvlkta lpeglgpyca
      361 ethrrhtlfc gtlilqaray vgphvlavvt rtgfctakgg lvssilhprp infkfykhsm
      421 kfvaalsvla llgtiysifi lyrnrvplne iviraldlvt vvvppalpaa mtvctlyaqs
      481 rlrrqgifci hplrinlggk lqlvcfdkvl eeepaadsaf gtqvlavmrp plwepqlqam
      541 eeppvpvsvl hrfpfssalq rmsvvvawpg atqpeayvkg spelvaglcn petvptdfaq
      601 mlqsytaagy rvvalaskpl ptvpsleaaq qltrdtvegd lsllgllvmr nllkpqttpv
      661 iqalrrtrir avmvtgdnlq tavtvargcg mvapqehlii vhathpergq pasleflpme
      721 sptavngvkd pdqaasytve pdprsrhlal sgptfgiivk hfpkllpkvl vqgtvfarma
      781 peqktelvce lqklqycvgm cgdgandcga lkaadvgisl sqaeasvvsp ftssmasiec
      841 vpmviregrc sldtsfsvfk ymalysltqf isvlilytin tnlgdlqfla idlvitttva
      901 vlmsrtgpal vlgrvrppga llsvpvlssl llqmvlvtgv qlggyfltla qpwfvplnrt
      961 vaapdnlpny entvvfslss fqylilaaav skgapfrrpl ytnvpflval allssvlvgl
     1021 vlvpgllqgp lalrnitdtg fkllllglvt lnfvgafmle svldqclpac lrrlrpkras
     1081 kkrfkqlere laeqpwpplp agplr
//
LOCUS       XP_016856396             643 aa            linear   PRI 20-MAR-2023
DEFINITION  inactive polyglycylase TTLL10 isoform X4 [Homo sapiens].
ACCESSION   XP_016856396
VERSION     XP_016856396.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017000907.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_016856396.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..643
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..643
                     /product="inactive polyglycylase TTLL10 isoform X4"
                     /calculated_mol_wt=70428
     Region          <54..283
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          408..>572
                     /region_name="CPSase_L_D2"
                     /note="Carbamoyl-phosphate synthase L chain, ATP binding
                     domain; cl17255"
                     /db_xref="CDD:450176"
     CDS             1..643
                     /gene="TTLL10"
                     /gene_synonym="TTLL5"
                     /coded_by="XM_017000907.2:152..2083"
                     /db_xref="GeneID:254173"
                     /db_xref="HGNC:HGNC:26693"
ORIGIN      
        1 mfkslfcssy rgavscrsfh ltsrhpgraq phlksrsgqg gharqrqgae taspphgarp
       61 hschrdgsqp haeaqahgpg rrpflgrvgl tacsiqalgp raarrshrrv raasslqgpr
      121 pgtprpmdhs ctrfihrrgp ptrtragfkr gkrpriqqrp rarvsgtipa srlhpapasq
      181 pgpcpapghc pvgpaherpm gssqeeglrc qpsqpdhdad ghcgpdlega erasatpgpp
      241 gllnshrpad sddtnaagps aalleglllg ggkpsphstr pgpffyiggs ngatiissyc
      301 kskgwqrihd srrddytlkw cevksrdsyg sfregeqlly qlpnnklltt kigllstlrg
      361 raramskask vpggvqarle kdaaapaled lpwtspgylr pqrvlrmeef fpetyrldlk
      421 hereafftlf detqiwickp tasnqgkgif llrnqeevaa lqaktrsmed dpihhktpfr
      481 gpqarvvqry iqnpllvdgr kfdvrsylli acttpymiff ghgyarltls lydphssdlg
      541 ghltnqfmqk ksplymllke htvwsmehln ryisdtfwka rglakdwvft tlkrlcslsw
      601 qclspaaskg pdgkpsrgsv gtspagslav gsgdssasvt atm
//
LOCUS       XP_006711389             708 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase MARK1 isoform X4 [Homo sapiens].
ACCESSION   XP_006711389
VERSION     XP_006711389.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006711326.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..708
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..708
                     /product="serine/threonine-protein kinase MARK1 isoform
                     X4"
                     /calculated_mol_wt=78855
     Region          10..223
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          243..283
                     /region_name="UBA_MARK1"
                     /note="UBA domain found in serine/threonine-protein kinase
                     MARK1 and similar proteins; cd14405"
                     /db_xref="CDD:270588"
     Region          609..706
                     /region_name="MARK1-3_C"
                     /note="C-terminal, kinase associated domain 1 (KA1), a
                     phospholipid binding domain, of microtubule
                     affinity-regulating kinases 1-3; cd12196"
                     /db_xref="CDD:213381"
     Site            order(611,614,684,686..687)
                     /site_type="other"
                     /note="putative phospholipid binding site [chemical
                     binding]"
                     /db_xref="CDD:213381"
     CDS             1..708
                     /gene="MARK1"
                     /gene_synonym="MARK; Par-1c; Par1c"
                     /coded_by="XM_006711326.5:167..2293"
                     /db_xref="GeneID:4139"
                     /db_xref="HGNC:HGNC:6896"
                     /db_xref="MIM:606511"
ORIGIN      
        1 mtsgslcpgp pglptlfrev rimkilnhpn ivklfeviet ektlylvmey asggevfdyl
       61 vahgrmkeke arakfrqivs avqychqkyi vhrdlkaenl lldgdmniki adfgfsneft
      121 vgnkldtfcg sppyaapelf qgkkydgpev dvwslgvily tlvsgslpfd gqnlkelrer
      181 vlrgkyripf ymstdcenll kkllvlnpik rgsleqimkd rwmnvgheee elkpytepdp
      241 dfndtkridi mvtmgfarde indalinqky devmatyill grkppefegg eslssgnlcq
      301 rsrpssdlnn stlqspahlk vqrsisanqk qrrfsdhagp sippavsytk rpqansvese
      361 qkeewdkdva rklgsttvgs ksemtasplv gperkkssti psnnvysggs marrntyvce
      421 rttdryvalq ngkdssltem svssissags svasavpsar prhqksmsts ghpikvtlpt
      481 ikdgseayrp gsttqrvpaa spsahsista tpdrtrfprg sssrstfhge qlrerrsvay
      541 ngppaspshe tgafaharrg tstgiiskit skfvrrdpse geasgrtdts rstsgepker
      601 dkeegkdskp rslrftwsmk ttssmdpndm mreirkvlda nncdyeqker fllfcvhgda
      661 rqdslvqwem evcklprlsl ngvrfkrisg tsiafknias kianelkl
//
LOCUS       XP_024305881             464 aa            linear   PRI 20-MAR-2023
DEFINITION  kinetochore protein Nuf2 isoform X1 [Homo sapiens].
ACCESSION   XP_024305881
VERSION     XP_024305881.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024450113.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..464
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..464
                     /product="kinetochore protein Nuf2 isoform X1"
                     /calculated_mol_wt=54173
     Region          3..146
                     /region_name="Nuf2"
                     /note="Nuf2 family; pfam03800"
                     /db_xref="CDD:427513"
     Region          144..>370
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..464
                     /gene="NUF2"
                     /gene_synonym="CDCA1; CT106; NUF2R"
                     /coded_by="XM_024450113.2:363..1757"
                     /db_xref="GeneID:83540"
                     /db_xref="HGNC:HGNC:14621"
                     /db_xref="MIM:611772"
ORIGIN      
        1 metlsfpryn vaeivihirn kiltgadgkn ltkndlypnp kpevlhmiym ralqivygir
       61 lehfymmpvn sevmyphlme gflpfsnlvt hldsflpicr vndfetadil cpkakrtsrf
      121 lsgiinfihf reacretyme flwqykssad kmqqlnaahq ealmklerld svpveeqeef
      181 kqlsdgiqel qqslnqdfhq ktivlqegns qkksnisekt krlnelklsv vslkeiqesl
      241 ktkivdspek lknykekmkd tvqklknarq evvekyeiyg dsvdclpscq levqlyqkki
      301 qdlsdnrekl asilkeslnl edqiesdese lkklkteens fkrlmivkke klataqfkin
      361 kkhedvkqyk rtviedcnkv qekrgavyer vttinqeiqk iklgiqqlkd aaereklksq
      421 eiflnlktal ekyhdgieka aedsyakide ktaelkrkmf kmst
//
LOCUS       XP_011517731            1616 aa            linear   PRI 20-MAR-2023
DEFINITION  disco-interacting protein 2 homolog C isoform X2 [Homo sapiens].
ACCESSION   XP_011517731
VERSION     XP_011517731.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011519429.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1616
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1616
                     /product="disco-interacting protein 2 homolog C isoform
                     X2"
                     /calculated_mol_wt=177358
     Region          <32..178
                     /region_name="DMAP_binding"
                     /note="DMAP1-binding Domain; pfam06464"
                     /db_xref="CDD:368923"
     Region          396..972
                     /region_name="Dip2"
                     /note="Disco-interacting protein 2 (Dip2); cd05905"
                     /db_xref="CDD:341231"
     Site            order(557,560..565,567..568)
                     /site_type="other"
                     /note="putative acyl-activating enzyme (AAE) consensus
                     motif"
                     /db_xref="CDD:341231"
     Site            order(560,680..681,739..744,837,849,852,863,952)
                     /site_type="other"
                     /note="putative AMP binding site [chemical binding]"
                     /db_xref="CDD:341231"
     Site            order(560,601..602,652,654..655,658,680..681,699..704,837,
                     849,852,860..863,933)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:341231"
     Site            order(601,654..655,658,680,860..862,920,933)
                     /site_type="other"
                     /note="putative CoA binding site [chemical binding]"
                     /db_xref="CDD:341231"
     Region          1048..1612
                     /region_name="Dip2"
                     /note="Disco-interacting protein 2 (Dip2); cd05905"
                     /db_xref="CDD:341231"
     Site            order(1197,1200..1205,1207..1208)
                     /site_type="other"
                     /note="putative acyl-activating enzyme (AAE) consensus
                     motif"
                     /db_xref="CDD:341231"
     Site            order(1200,1326..1327,1381..1386,1477,1499,1502,1513,1592)
                     /site_type="other"
                     /note="putative AMP binding site [chemical binding]"
                     /db_xref="CDD:341231"
     Site            order(1200,1241..1242,1292,1294..1295,1298,1326..1327,
                     1344..1349,1477,1499,1502,1510..1513,1573)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:341231"
     Site            order(1241,1294..1295,1298,1326,1510..1512,1560,1573)
                     /site_type="other"
                     /note="putative CoA binding site [chemical binding]"
                     /db_xref="CDD:341231"
     CDS             1..1616
                     /gene="DIP2C"
                     /gene_synonym="KIAA0934"
                     /coded_by="XM_011519429.4:1065..5915"
                     /db_xref="GeneID:22982"
                     /db_xref="HGNC:HGNC:29150"
                     /db_xref="MIM:611380"
ORIGIN      
        1 mgcgvlwwtr atgrgvarwr rgagrsvlww mrgditqkgy ekkrskliga ylpqpptang
       61 aavvrcrlqh segaprrtfr sahigvcdvr eaaarervas tagnrplfyf rfgvdqalpq
      121 errapvtpss asryhrrrss gsrderyrsd vhteavqaal akhkerkmav pmpskrrslv
      181 vqtsmdaytp pdtssgsede gsvqgdsqgt ptssqgsinm ehwisqaihg sttsttssss
      241 tqsggsgaah rladvmaqth ienhsappdv ttytsehsiq verpqgstgs rtapkygnae
      301 lmetgdgvpv ssrvsakiqq lvntlkrpkr pplreffvdd feellevqqp dpnqpkpega
      361 qmlamrgeql gvvtnwppsl eaalqrwgti spkapclttm dtngkplyil tygklwtrsm
      421 kvaysilhkl gtkqepmvrp gdrvalvfpn ndpaafmaaf ygcllaevvp vpievpltrk
      481 dagsqqigfl lgscgvtval tsdachkglp ksptgeipqf kgwpkllwfv teskhlskpp
      541 rdwfphikda nndtayieyk tckdgsvlgv tvtrtallth cqaltqacgy teaetivnvl
      601 dfkkdvglwh giltsvmnmm hvisipyslm kvnplswiqk vcqykakvac vksrdmhwal
      661 vahrdqrdin lsslrmliva dganpwsiss cdaflnvfqs kglrqevicp casspealtv
      721 airrptddsn qppgrgvlsm hgltygvirv dseeklsvlt vqdvglvmpg aimcsvkpdg
      781 vpqlcrtdei gelcvcavat gtsyyglsgm tkntfevfpm tssgapisey pfirtgllgf
      841 vgpgglvfvv gkmdglmvvs grrhnaddiv atalavepmk fvyrgriavf svtvlhderi
      901 vivaeqrpds teedsfqwms rvlqaidsih qvgvyclalv pantlpktpl ggihlsetkq
      961 lflegslhpc nvlmcphtcv tnlpkprqkq peigpasvmv gnlvsgkria qasgrdlgqi
     1021 edndqarkfl flsevlqwra qttpdhilyt llncrgaian sltcvqlhkr aekiavmlme
     1081 rghlqdgdhv alvyppgidl iaafygclya gcvpitvrpp hpqniattlp tvkmivevsr
     1141 saclmttqli ckllrsreaa aavdvrtwpl ildtddlpkk rpaqickpcn pdtlayldfs
     1201 vsttgmlagv kmshaatsaf crsiklqcel ypsrevaicl dpycglgfvl wclcsvysgh
     1261 qsilippsel etnpalwlla vsqykvrdtf csysvmelct kglgsqtesl kargldlsrv
     1321 rtcvvvaeer prialtqsfs klfkdlglhp ravstsfgcr vnlaiclqgt sgpdpttvyv
     1381 dmralrhdrv rlvergsphs lplmesgkil pgvriiianp etkgplgdsh lgeiwvhsah
     1441 nasgyftiyg deslqsdhfn srlsfgdtqt iwartgylgf lrrteltdan gerhdalyvv
     1501 galdeamelr gmryhpidie tsvirahksv tecavftwtn llvvvveldg seqealdlvp
     1561 lvtnvvleeh ylivgvvvvv digvipinsr gekqrmhlrd gfladqldpi yvaynm
//
LOCUS       XP_047280837            1538 aa            linear   PRI 20-MAR-2023
DEFINITION  peroxisome proliferator-activated receptor gamma
            coactivator-related protein 1 isoform X10 [Homo sapiens].
ACCESSION   XP_047280837
VERSION     XP_047280837.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424881.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1538
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1538
                     /product="peroxisome proliferator-activated receptor gamma
                     coactivator-related protein 1 isoform X10"
                     /calculated_mol_wt=164186
     Region          <527..1109
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1415..1505
                     /region_name="RRM_PRC"
                     /note="RNA recognition motif (RRM) found in peroxisome
                     proliferator-activated receptor gamma coactivator-related
                     protein 1 (PRC) and similar proteins; cd12624"
                     /db_xref="CDD:410035"
     CDS             1..1538
                     /gene="PPRC1"
                     /gene_synonym="PRC"
                     /coded_by="XM_047424881.1:30..4646"
                     /db_xref="GeneID:23082"
                     /db_xref="HGNC:HGNC:30025"
                     /db_xref="MIM:617462"
ORIGIN      
        1 maarrgrrdg vapppsggpg pdpgggargs gwgsrsqapy gtlgavsgge qvllheeagd
       61 sgfvslsrlg pslrdkdlem eelmlqdetl lgtmqsymda slisliedfg slgevemslp
      121 dpswdfspps fletsspklp swrpprsrpr wgqspppqqr sdgeeeeeva sfsgqilage
      181 ldncvssipd fpmhlacpee edkataaema vpaagdesis slselvramh pyclpnlthl
      241 asledelqeq pddltlpegc vvleivgqaa tagddleipv vvrqvspgpr pvllddslet
      301 ssalqllmpt leseteaavp kvtlcsekeg lslnseekld sacllkprev vepvvpkepq
      361 nppanaapgs qrarkgrkkk skeqpaacve gyarrlrsss rgqstvgtev tsqvdnlqkq
      421 pqeelqkesg plqgkgkpra warawaaale nsspknlers agqsspakeg pldlypklad
      481 tiqtnpipth lslvdsaqas pmpvdsvead ptavgpvlag pvpvdpglvd lastsselve
      541 plpaepvlin pvladsaavd pavvpisdnl ppvdavpsgp apvdlalvdp vpndltpvdp
      601 vlvksrptdp rrgavssalg gsapqllves esldppktii pevkevvdsl kiesgtsatt
      661 hearprplsl seyrrrrqqr qaeteerspq pptgkwpslp etptgladip clvippapak
      721 ktalqrspet pleiclvpvg pspaspspep pvskpvassp teqvpsqemp llarpsppvq
      781 svspavptpp smsaalpfpa gglgmppslp ppplqppslp lsmgpvlpdp fthyaplpsw
      841 pcyphvspsg ypclpppptv plvsgtpgay avpptcsvpw apppapvspy sstctygplg
      901 wgpgpqhapf wstvpppplp pasigravpq pkmesrgtpa gppenvlpls mapplslglp
      961 ghgapqtept kvevkpvpas phpkhkvsal vqspqmkala cvsaegvtve epaserlkpe
     1021 tqetrprekp plpatkavpt prqstvpklp avhparlrkl sflptprtqg sedvvqafis
     1081 eigieasdls slleqfekse gltppatpph qlwkplaavs llakakspks taqegtlkpe
     1141 gvteakhpaa vrlqegvhgp srvhvgsgdh dycvrsrtpp kkmpalvipe vgsrwnvkrh
     1201 qditikpvls lgpaappppc iaasrepldh rtsseqadps apclapssll speaspcrnd
     1261 mntrtppeps akqrsmrcyr kacrsaspss qgwqgrrgrn srsvssgsnr tseassssss
     1321 sssssrsrsr slspphkrwr rsscsssgrs rrcsssssss ssssssssss sssrsrsrsp
     1381 sprrrsdrrr ryssyrshdh yqrqrvlqke raieerrvvf igkipgrmtr selkqrfsvf
     1441 geieectihf rvqgdnygfv tyryaeeafa aiesghklrq adeqpfdlcf ggrrqfckrs
     1501 ysdldsnred fdpapvkskf dsldfdtllk qaqknlrr
//
LOCUS       XP_011518673             323 aa            linear   PRI 20-MAR-2023
DEFINITION  mitochondrial glutamate carrier 1 isoform X1 [Homo sapiens].
ACCESSION   XP_011518673
VERSION     XP_011518673.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011520371.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..323
                     /product="mitochondrial glutamate carrier 1 isoform X1"
                     /calculated_mol_wt=34339
     Region          3..289
                     /region_name="PTZ00169"
                     /note="ADP/ATP transporter on adenylate translocase;
                     Provisional"
                     /db_xref="CDD:240302"
     Region          4..98
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     CDS             1..323
                     /gene="SLC25A22"
                     /gene_synonym="DEE3; EIEE3; GC-1; GC1; NET44"
                     /coded_by="XM_011520371.2:224..1195"
                     /db_xref="GeneID:79751"
                     /db_xref="HGNC:HGNC:19954"
                     /db_xref="MIM:609302"
ORIGIN      
        1 madkqislpa klinggiagl igvtcvfpid laktrlqnqq ngqrvytsms dcliktvrse
       61 gyfgmyrgaa vnltlvtpek aiklaandff rhqlskdgqk ltllkemlag cgagtcqviv
      121 ttpmemlkiq lqdagriaaq rkilaaqgql saqggaqpsv eapaaprpta tqltrdllrs
      181 rgiaglykgl gatllrdvpf svvyfplfan lnqlgrpase ekspfyvsfl agcvagsaaa
      241 vavnpcdvvk trlqslqrgv nedtysgild carkilrheg psaflkgayc ralviaplfg
      301 iaqvvyflgi aesllgllqd pqa
//
LOCUS       XP_011536076             143 aa            linear   PRI 20-MAR-2023
DEFINITION  prostaglandin E synthase 3 isoform X4 [Homo sapiens].
ACCESSION   XP_011536076
VERSION     XP_011536076.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011537774.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..143
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..143
                     /product="prostaglandin E synthase 3 isoform X4"
                     /calculated_mol_wt=16925
     Region          7..113
                     /region_name="p23"
                     /note="p23 binds heat shock protein (Hsp)90 and
                     participates in the folding of a number of Hsp90 clients,
                     including the progesterone receptor. p23 also has a
                     passive chaperoning activity and in addition may
                     participate in prostaglandin synthesis; cd00237"
                     /db_xref="CDD:107218"
     Site            order(12,57,91..94,103,107,110)
                     /site_type="other"
                     /note="putative Hsp90 binding site [polypeptide binding]"
                     /db_xref="CDD:107218"
     Site            order(60,62,92,95..97)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:107218"
     CDS             1..143
                     /gene="PTGES3"
                     /gene_synonym="cPGES; P23; TEBP"
                     /coded_by="XM_011537774.3:1022..1453"
                     /db_xref="GeneID:10728"
                     /db_xref="HGNC:HGNC:16049"
                     /db_xref="MIM:607061"
ORIGIN      
        1 mfylrqpasa kwydrrdyvf iefcvedskd vnvnfekskl tfsclggsdn fkhlneidlf
       61 hcidpndskh krtdrsilcc lrkgesgqsw prltkerakl nwlsvdfnnw kdweddsded
      121 msnfdrfsed sqdsddekmp dle
//
LOCUS       XP_047285536             497 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-coupled neutral amino acid symporter 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047285536
VERSION     XP_047285536.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429580.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..497
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..497
                     /product="sodium-coupled neutral amino acid symporter 1
                     isoform X1"
                     /calculated_mol_wt=55303
     Region          69..475
                     /region_name="SLC5-6-like_sbd"
                     /note="Solute carrier families 5 and 6-like; solute
                     binding domain; cl00456"
                     /db_xref="CDD:444915"
     CDS             1..497
                     /gene="SLC38A1"
                     /gene_synonym="ATA1; NAT2; SAT1; SNAT1"
                     /coded_by="XM_047429580.1:589..2082"
                     /db_xref="GeneID:81539"
                     /db_xref="HGNC:HGNC:13447"
                     /db_xref="MIM:608490"
ORIGIN      
        1 mmhfksglel telqnmtvpe ddnisndsnd ftevengqin skfisdresr rsltnshlek
       61 kkcdeyipgt tslgmsvfnl snaimgsgil glafalantg illflvllts vtllsiysin
      121 lllicsketg cmvyeklgeq vfgttgkfvi fgatslqntg amlsylfivk nelpsaikfl
      181 mgkeetfsaw yvdgrvlvvi vtfgiilplc llknlgylgy tsgfslscmv fflivviykk
      241 fqipcivpel nstisanstn adtctpkyvt fnsktvyalp tiafafvchp svlpiyselk
      301 drsqkkmqmv snisffamfv myfltaifgy ltfydnvqsd llhkyqskdd ililtvrlav
      361 ivaviltvpv lfftvrsslf elakktkfnl crhtvvtcil lvvinllvif ipsmkdifgv
      421 vgvtsanmli filpsslylk itdqdgdkgt qriwfpvqpc wlseciillp aalslnmlkr
      481 keliilcsld sgfsnly
//
LOCUS       XP_024304998             413 aa            linear   PRI 20-MAR-2023
DEFINITION  dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol
            alpha-1,2-glucosyltransferase isoform X1 [Homo sapiens].
ACCESSION   XP_024304998
VERSION     XP_024304998.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024449230.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..413
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..413
                     /product="dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol
                     alpha-1,2-glucosyltransferase isoform X1"
                     /calculated_mol_wt=48519
     Region          1..367
                     /region_name="DIE2_ALG10"
                     /note="DIE2/ALG10 family; pfam04922"
                     /db_xref="CDD:428197"
     CDS             1..413
                     /gene="ALG10"
                     /gene_synonym="ALG10A; DIE2; KCR1"
                     /coded_by="XM_024449230.2:109..1350"
                     /db_xref="GeneID:84920"
                     /db_xref="HGNC:HGNC:23162"
                     /db_xref="MIM:618355"
ORIGIN      
        1 mittlpglyl vsigvikpai wifgwsehvv csigmlrfvn llfsvgnfyl lyllfckvqp
       61 rnkaassiqr vlstltlavf ptlyffnfly yteagsmfft lfaylmclyg nhktsaflgf
      121 cgfmfrqtni iwavfcagnv iaqklteawk telqkkedrl ppikgpfaef rkilqfllay
      181 smsfknlsml llltwpyill gflfcafvvv nggivigdrs sheaclhfpq lfyffsftlf
      241 fsfphllsps kiktflslvw krrilffvvt lvsvflvwkf tyahkyllad nrhytfyvwk
      301 rvfqryetvk yllvpayifa gwsiadslks ksifwnlmff iclftvivpq kllefryfil
      361 pyviyrlnip lpptsrlice lscyavvnfi tffiflnktf qwpnsqdiqr fmw
//
LOCUS       XP_006719920             999 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein 26 isoform X15 [Homo sapiens].
ACCESSION   XP_006719920
VERSION     XP_006719920.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006719857.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..999
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..999
                     /product="RNA-binding protein 26 isoform X15"
                     /calculated_mol_wt=112272
     Region          11..76
                     /region_name="PWI"
                     /note="PWI domain; cl02562"
                     /db_xref="CDD:445831"
     Region          <294..314
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     Region          546..621
                     /region_name="RRM1_RBM26"
                     /note="RNA recognition motif 1 (RRM1) found in vertebrate
                     RNA-binding protein 26 (RBM26); cd12516"
                     /db_xref="CDD:409938"
     Region          <737..>859
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          901..972
                     /region_name="RRM2_RBM26_like"
                     /note="RNA recognition motif 2 (RRM2) found in vertebrate
                     RNA-binding protein 26 (RBM26) and similar proteins;
                     cd12258"
                     /db_xref="CDD:409703"
     CDS             1..999
                     /gene="RBM26"
                     /gene_synonym="ARRS2; C13orf10; PPP1R132; PRO1777; SE70-2;
                     ZC3H17"
                     /coded_by="XM_006719857.3:482..3481"
                     /db_xref="GeneID:64062"
                     /db_xref="HGNC:HGNC:20327"
                     /db_xref="MIM:620081"
ORIGIN      
        1 mvskmiienf ealkswlskt lepicdadps alakyvlalv kkdksekelk alcidqldvf
       61 lqketqifve klfdavntks ylpppeqpss gslkveffph qekdikkeei tkeeerekkf
      121 srrlnhsppq sssryrenrs rderkkddrs rkrdydrnpp rrdsyrdryn rrrgrsrsys
      181 rsrsrswske rlrerdrdrs rtrsrsrtrs rerdlvkpky dldrtdplen nytpvssvps
      241 issghypvpt lsstitviap thhgnnttes wsefhedqvd hnsyvrppmp kkrcrdydek
      301 gfcmrgdmcp fdhgsdpvvv edvnlpgmlp fpaqppvveg ppppglpppp piltpppvnl
      361 rppvpppgpl ppslppvtdd isyslvltgp ppplpplqps gmdappnsat ssvptvvttg
      421 ihhqpppapp slftavfvlp dtydtdgynp eapsitntsr pmyrhrvhaq rpnligltsg
      481 dmdlpprekp pnkssmrivv dsesrkrtig sgepgvptkk twfdkpnfnr tnspgfqkkv
      541 qfgnentkle lrkvppelnn isklnehfsr fgtlvnlqva yngdpegali qfatyeeakk
      601 aissteavln nrfikvywhr egstqqlqtt spkvmqplvq qpilpvvkqs vkerlgpvps
      661 stiepaeaqs assdlpqnvt klsvkdrlgf vskpsvsate kvlststglt ktvynpaalk
      721 aaqktllvst savdnneaqk kkqealklqq dvrkrkqeil ekhietqkml iskleknktm
      781 ksedkaeimk tlevltknit klkdevkaas pgrclpksik tktqmqkell dteldlykkm
      841 qageevtelr rkytelqlea akrgilssgr grgihsrgrg avhgrgrgrg rgrgvpghav
      901 vdhrpralei saftesdred llphfaqyge iedcqiddss lhavitfktr aeaeaaavhg
      961 arfkgqdlkl awnkpvtnis aveteevepd eeereiiia
//
LOCUS       XP_016876746            1027 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 6 isoform X10 [Homo sapiens].
ACCESSION   XP_016876746
VERSION     XP_016876746.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017021257.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1027
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1027
                     /product="tetratricopeptide repeat protein 6 isoform X10"
                     /calculated_mol_wt=117392
     Region          <884..>1014
                     /region_name="3a0801s09"
                     /note="mitochondrial precursor proteins import receptor
                     (72 kDa mitochondrial outermembrane protein)
                     (mitochondrial import receptor for the ADP/ATP carrier)
                     (translocase of outermembrane tom70); TIGR00990"
                     /db_xref="CDD:273380"
     Site            order(899..900,902,934,937..938,941..942,944..945,968,
                     971..972,975..976,979)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          924..962
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          933..964
                     /region_name="TPR_1"
                     /note="Tetratricopeptide repeat; pfam00515"
                     /db_xref="CDD:425728"
     Region          967..991
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..1027
                     /gene="TTC6"
                     /gene_synonym="C14orf25; NCRNA00291"
                     /coded_by="XM_017021257.2:428..3511"
                     /db_xref="GeneID:319089"
                     /db_xref="HGNC:HGNC:19739"
ORIGIN      
        1 mrrgtrihgs evkfvkmsti prhfglkyke esymfkelek vrqetkkdfl rfkqklaskp
       61 avdespvhsl hapgparpar vscaaartsr rypslkgpam saaallqevl ggaprpsglg
      121 eaaapgktrs frprdfylrs saflrhqalk kppviasgfg tarpvvllpp peppvkrrar
      181 gvlessrhaa prrvfhlgre reqsqevapl agpcmakerk assvsaedgy meassgrrkv
      241 rirsnfvses gareareaag lgaqgeqesw ppsdareaaw qallpsrvip tsieeiiasl
      301 qseaqlasdq tikelirsvl gqnyditmed islmgkmylk tspmqaetpe iqaeykfqmg
      361 aeesqmsvhk elsetmssil qieqediewg pseaesivfk pqeisqvqpa eelskpledg
      421 qptsdskeak wvsltakspe flqiegkeik rmrkrkslrp rksskplcdk klhkkipqdy
      481 smphlhdlct tipaqelpvd lrlasrvyht anrkghdtll gkfgtsfldd rftdeeqtdr
      541 ilygipvmdd nqeyvhippt pqgippelaq gtrerahkph levlgeemya ypeftklfwn
      601 taapkfsvpe svmketlypk yesvqasrll tdklsykssv itlhqhsrtn fwcflprksa
      661 sfesiqkwfs aqptqlrrvk ssvdlrkeki iapleikndm qssikevmfq kakelkrqlq
      721 ltkqnkteep nyvkesiddi fdnmcekhsl rnlsltliea skkagisyiv ypkkkkmrwk
      781 krlkqqklif vheelskppk slersashgi lpgqkkylfk vplyerqirc pslplylnfe
      841 kfvqakggip enidprtwal drlieykdas ipvkekddki svpedpperv keppklklnd
      901 yvesdlpqev ikyyesevki lteeindktk ypafaycrrg aiyrklgklq samndlqrvi
      961 lleplflnay whrhliylfq dkinealddl nyihkynknn tghteglhml ngnfikkqlk
     1021 ifllqft
//
LOCUS       XP_005255055             683 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptic vesicle glycoprotein 2B isoform X1 [Homo sapiens].
ACCESSION   XP_005255055
VERSION     XP_005255055.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005254998.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..683
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..683
                     /product="synaptic vesicle glycoprotein 2B isoform X1"
                     /calculated_mol_wt=77314
     Region          8..683
                     /region_name="synapt_SV2"
                     /note="synaptic vesicle protein SV2; TIGR01299"
                     /db_xref="CDD:130366"
     CDS             1..683
                     /gene="SV2B"
                     /gene_synonym="HsT19680; SLC22B2"
                     /coded_by="XM_005254998.4:557..2608"
                     /db_xref="GeneID:9899"
                     /db_xref="HGNC:HGNC:16874"
                     /db_xref="MIM:185861"
ORIGIN      
        1 mddykyqdny ggyapsdgyy rgnesnpeed aqsdvteghd eedeiyegey qgiphpddvk
       61 akqakmapsr mdslrgqtdl maerledeeq lahqyetimd ecghgrfqwi lffvlglalm
      121 adgvevfvvs falpsaekdm clssskkgml gmivylgmma gafilgglad klgrkrvlsm
      181 slavnasfas lssfvqgyga flfcrlisgi giggalpivf ayfseflsre krgehlswlg
      241 ifwmtgglya samawsiiph ygwgfsmgtn yhfhswrvfv ivcalpctvs mvalkfmpes
      301 prfllemgkh deawmilkqv hdtnmrakgt pekvftvsni ktpkqmdefi eiqsstgtwy
      361 qrwlvrfkti fkqvwdnaly cvmgpyrmnt lilavvwfam afsyygltvw fpdmiryfqd
      421 eeykskmkvf fgehvygati nftmenqihq hgklvndkft rmyfkhvlfe dtffdecyfe
      481 dvtstdtyfk nctiestify ntdlyehkfi ncrfinstfl eqkegchmdl eqdndfliyl
      541 vsflgslsvl pgniisallm drigrlkmig gsmlisavcc fflffgnses amigwqclfc
      601 gtsiaawnal dvitvelypt nqratafgil nglckfgail gntifasfvg itkvvpilla
      661 aaslvgggli alrlpetreq vlm
//
LOCUS       XP_011521117             220 aa            linear   PRI 20-MAR-2023
DEFINITION  craniofacial development protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_011521117
VERSION     XP_011521117.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011522815.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..220
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..220
                     /product="craniofacial development protein 1 isoform X3"
                     /calculated_mol_wt=24245
     Region          <1..>64
                     /region_name="CDC45"
                     /note="CDC45-like protein; pfam02724"
                     /db_xref="CDD:426940"
     CDS             1..220
                     /gene="CFDP1"
                     /gene_synonym="BCNT; BUCENTAUR; CENP-29; CP27; p97; SWC5;
                     Yeti"
                     /coded_by="XM_011522815.3:152..814"
                     /db_xref="GeneID:10428"
                     /db_xref="HGNC:HGNC:1873"
                     /db_xref="MIM:608108"
ORIGIN      
        1 meefdsedfs tseededyvp sggeyseddv nelvkedevd geeqtqktqg kkrkaqsipa
       61 rkrrqgglsl eeeeeedans esegssseee ddaaeqekgi gsedarkkke delwasflnd
      121 vgpkskvpps tqvkkgeete etssskllvk aeelekpket ekvkitkvfd fageevrvtk
      181 evdatskeak sffkqnekek pqanvpsalp slpagsgcvi
//
LOCUS       XP_016878921            4130 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein axonemal heavy chain 3 isoform X13 [Homo sapiens].
ACCESSION   XP_016878921
VERSION     XP_016878921.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017023432.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4130
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..4130
                     /product="dynein axonemal heavy chain 3 isoform X13"
                     /calculated_mol_wt=472387
     Region          873..1276
                     /region_name="DHC_N2"
                     /note="Dynein heavy chain, N-terminal region 2; pfam08393"
                     /db_xref="CDD:429971"
     Region          1076..3757
                     /region_name="DYN1"
                     /note="Dynein, heavy chain [Cytoskeleton]; COG5245"
                     /db_xref="CDD:227570"
     Region          1405..1731
                     /region_name="AAA_6"
                     /note="Hydrolytic ATP binding site of dynein motor region
                     D1; pfam12774"
                     /db_xref="CDD:432774"
     Region          2418..2678
                     /region_name="AAA_8"
                     /note="P-loop containing dynein motor region D4;
                     pfam12780"
                     /db_xref="CDD:432779"
     Region          3825..4126
                     /region_name="Dynein_C"
                     /note="Dynein heavy chain C-terminal domain; pfam18199"
                     /db_xref="CDD:436342"
     CDS             1..4130
                     /gene="DNAH3"
                     /gene_synonym="DNAHC3-B; DNAHC3B; HDHC8; HEL-36; HSADHC3"
                     /coded_by="XM_017023432.2:19..12411"
                     /db_xref="GeneID:55567"
                     /db_xref="HGNC:HGNC:2949"
                     /db_xref="MIM:603334"
ORIGIN      
        1 mgatgrlelt laapphpgpa fqrskaretq geeegsemqi aksdsihhms hsqgqpelpp
       61 lpasaneeps glyqtvmshs fypplmqrts wtlaapfkeq hhhrgpsdsi annyslmaqd
      121 lklkdllkvy qpatisvprd rtgqglpssg nrsssepmrk ktkfssrnke dstriklafk
      181 tsifspmkke vktsltfpgs rpmspeqqld vmlqqememe skekkpsesd leryyyyltn
      241 girkdmiape egevmvrisk lisntlltsp fleplmvvlv qekendyycs lmksivdyil
      301 mdpmerkrlf iesiprlfpq rvirapvpwh svyrsakkwn eehlhtvnpm mlrlkelwfa
      361 efrdlrfvrt aeilagklpl qpqefwdviq khcleahqtl lnkwiptcaq lftsrkehwi
      421 hfapksnyds srnieeyfas vasfmslqlr elviksledl vslfmihkdg ndfkepyqem
      481 kffipqlimi klevsepiiv fnpsfdgcwe lirdsfleii knsngipklk yiplkfsfta
      541 aaadrqcvka aepgepsmha aatamaelkg ynlllgtvna eeklvsdfli qtfkvfqknq
      601 vgpckylnvy kkyvdlldnt aeqniaaflk enhdiddfvt kinaikkrrn eiasmnitvp
      661 lamfcldata lnhdlceraq nlkdhliqfq vdvnrdtnts icnqyshiad kvsevpantk
      721 elvslieflk kssavtvfkl rrqlrdaser leflmdyadl pyediklnst lflwpdqied
      781 ifdnsrnlll hkrdqaemdl ikrcsefelr legyhreles frkrevmtte emkhnvekln
      841 elsknlnraf aefelinkee ellekeksty pllqamlknk vpyeqlwsta yefsikseew
      901 mngplfllna eqiaeeignm wrttyklikt lsdvpaprrl aenvkikidk fkqyipilsi
      961 scnpgmkdrh wqqiseivgy eikptettcl snmlefgfgk fveklepiga aaskeyslek
     1021 nldrmkldwv nvtfsfvkyr dtdtnilcai ddiqmllddh viktqtmcgs pfikpieaec
     1081 rkweekliri qdnldawlkc qatwlylepi fssediiaqm peegrkfgiv dsywkslmsq
     1141 avkdnrilva adqprmaekl qeanflledi qkglndylek krlffprfff lsndelleil
     1201 setkdplrvq phlkkcfegi akleftdnle ivgmisseke tvpfiqkiyp anakgmvekw
     1261 lqqveqmmla smreviglgi eayvkvprnh wvlqwpgqvv icvssifwtq evsqalaent
     1321 lldflkksnd qiaqivqlvr gklssgarlt lgaltvidvh ardvvaklse drvsdlndfq
     1381 wisqlryywv akdvqvqiit tealygyeyl gnsprlvitp ltdrcyrtlm galklnlgga
     1441 pegpagtgkt ettkdlakal akqcvvfncs dgldykamgk ffkglaqaga wacfdefnri
     1501 evevlsvvaq qilsiqqaii rklktfifeg telslnptca vfitmnpgya graelpdnlk
     1561 alfrtvammv pdyaligeis lysmgfldsr slaqkivaty rlcseqlssq hhydygmrav
     1621 ksvltaagnl klkypeenes vlllralldv nlakflaqdv plfqgiisdl fpgvvlpkpd
     1681 yevflkvlnd nikkmklqpv pwfigkiiqi yemmlvrhgy mivgdpmggk tsaykvlaaa
     1741 lgdlhaanqm eefaveykii npkaitmgql ygcfdqvshe wmdgvlanaf reqasslsdd
     1801 rkwiifdgpv daiwienmnt vlddnkklcl msgeiiqmns kmslifepad leqaspatvs
     1861 rcgmiymeph qlgwkplkds ymdtlpsslt kehkelvndm fmwlvqpcle fgrlhckfvv
     1921 qtspihlafs mmrlysslld eiraveeeem elgeglssqq iflwlqglfl fslvwtvagt
     1981 inadsrkkfd vffrnlimgm ddnhprpksv kltknnifpe rgsiydfyfi kqasghwetw
     2041 tqyitkeeek vpagakvsel iiptmetarq sfflktyldh eipmlfvgpt gtgksaitnn
     2101 fllhlpknty lpncinfsar tsanqtqdii mskldrrrkg lfgppigkka vvfvddlnmp
     2161 akevygaqpp iellrqwidh gywfdkkdtt rldivdmllv tamgppgggr nditgrftrh
     2221 lniisinafe ddiltkifss ivdwhfgkgf dvmflrygkm lvqatktiyr davenflptp
     2281 skshyvfnlr dfsrviqgvl lcphthlqdv ekcirlwihe vyrvfydrli dkedrqvffn
     2341 mvkettsncf kqtiekvlih lsptgkivdd nirslffgdy fkpesdqkiy deitdlkqlt
     2401 vvmehyleef nniskapmsl vmfrfaiehi sricrvlkqd kghlllvgig gsgrqsaakl
     2461 stfmnayely qieitknyag ndwredlkki ilqvgvatks tvflfadnqi kdesfvedin
     2521 mllntgdvpn ifpadekadi vekmqtaart qgekvevtpl smynffierv rknlhivlam
     2581 spigdafrnr lrmfpslinc ctidwfqswp tdalelvank fledvelddn irvevvsmck
     2641 yfqesvkkls ldyynklrrh nyvtptsyle liltfktlln skrqevammr nryltglqkl
     2701 dfaasqvavm qreltalqpq liltseetak mmvkieaetr eadgkkllvq adekeanvaa
     2761 aiaqgiknec egdlaeampa leaalaaldt lnpadislvk smqnppgpvk lvmesicimk
     2821 gmkperkpdp sgsgkmiedy wgvskkilgd lkfleslkty dkdnippltm krirerfinh
     2881 pefqpavikn vssaceglck wvramevydr vakvvapkre rlreaegkla aqmqklnqkr
     2941 aelklvvdrl qalnddfeem ntkkkdleen ieicsqklvr aeklisglgg ekdrwteaar
     3001 qlgirytnlt gdvllssgtv aylgaftvdy rvqcqnqwla eckdkvipgf sdfslshtlg
     3061 dpikirawqi aglpvdsfsi dngiivsnsr rwalmidphg qankwiknme kanklavikf
     3121 sdsnymrmle nalqlgtpvl ienigeelda siepillkat fkqqgveymr lgeniieysr
     3181 dfklyittrl rnphylpeva vkvcllnfmi tplglqdqll givaakekpe leekknqliv
     3241 esaknkkhlk eiedkilevl smskgniled etaikvlsss kvlseeisek qkvasmtetq
     3301 idetrmgykp vavhsatiff cisdlaniep myqysltwfi nlymhslths tkseelnlri
     3361 kyiidhftls iynnvcrslf ekdkllfsll ltigimkqkk eiteevwyfl ltggialdnp
     3421 ypnpapqwls ekawaeivra salpklhglm ehleqnlgew kliydsawph eeqlpgswkf
     3481 sqglekmvil rclrpdkmvp avrefiaehm gklyieaptf dlqgsyndss ccaplifvls
     3541 psadpmagll kfaddlgmgg trtqtislgq gqgpiaakmi nnaikdgtwv vlqnchlaas
     3601 wmptlekice evivpestna rfrlwltsyp sekfpvsilq ngikmtnepp kglranllrs
     3661 ylndpisdpv ffqscakavm wqkmlfglcf fhavvqerrn fgplgwnipy efnesdlris
     3721 mwqiqmflnd ykevpfdalt yltgecnygg rvtddkdrrl llsllsmfyc keieedyysl
     3781 apgdtyyipp hgsyqsyidy lrnlpitahp evfglhenad itkdnqetnq lfegvlltlp
     3841 rqsggsgksp qevveelaqd ilsklprdfd leevmklypv vyeesmntvl rqelirfnrl
     3901 tkvvrrslin lgraikgqvl msseleevfn smlvgkvpam waaksypslk plggyvadll
     3961 arltffqewi dkgppvvfwi sgfyftqsfl tgvsqnyark ytipidhigf efevtpqetv
     4021 mennpedgay ikglflegar wdrktmqige slpkilydpl piiwlkpges amflhqdiyv
     4081 cpvyktsarr gtlsttghst nyvlsielpt dmpqkhwinr gvaslcqldn
//
LOCUS       XP_016879123             167 aa            linear   PRI 20-MAR-2023
DEFINITION  TP53-target gene 3 protein isoform X1 [Homo sapiens].
ACCESSION   XP_016879123
VERSION     XP_016879123.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017023634.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..167
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..167
                     /product="TP53-target gene 3 protein isoform X1"
                     /calculated_mol_wt=17352
     CDS             1..167
                     /gene="TP53TG3D"
                     /gene_synonym="TP53TG3; TP53TG3B; TP53TG3C; TP53TG3E;
                     TP53TG3F"
                     /coded_by="XM_017023634.3:69..572"
                     /db_xref="GeneID:729264"
                     /db_xref="HGNC:HGNC:44657"
ORIGIN      
        1 mraspcisqp aaswhprpsa lrptagsgpd trtpgtvedg sapcpafrsp avspcgeepc
       61 cfqispaeet lelgrlvspg ncdtlspraa gfyachvrsl ipcrstkgrw pltasaagls
      121 rlsqilctpg vplgppgslr gpylgrashg dfptsvikrr krhsgra
//
LOCUS       XP_047290720            1807 aa            linear   PRI 20-MAR-2023
DEFINITION  protein NLRC5 isoform X5 [Homo sapiens].
ACCESSION   XP_047290720
VERSION     XP_047290720.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434764.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1807
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..1807
                     /product="protein NLRC5 isoform X5"
                     /calculated_mol_wt=197917
     Region          1..95
                     /region_name="Atypical_Card"
                     /note="Atypical caspase recruitment domain; pfam18461"
                     /db_xref="CDD:436519"
     Region          222..383
                     /region_name="NACHT"
                     /note="NACHT domain; pfam05729"
                     /db_xref="CDD:428606"
     Region          514..628
                     /region_name="NLRC4_HD2"
                     /note="NLRC4 helical domain HD2; pfam17776"
                     /db_xref="CDD:436035"
     Region          <661..865
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          688..715
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          716..743
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          744..771
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          772..798
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          802..843
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          819..>1040
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          844..871
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          952..1248
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Site            order(954..955,1013,1086,1114,1193,1218,1220,1246)
                     /site_type="other"
                     /note="Substrate binding site [chemical binding]"
                     /db_xref="CDD:238064"
     Region          1406..1436
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1437..1464
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          1463..1763
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Site            order(1465,1468,1470,1473,1475,1493,1496,1498,1501,1503,
                     1521,1524,1526,1529,1531,1549,1552,1554,1557,1559,1577,
                     1580,1582,1585,1587,1605,1608,1610,1613,1615,1631,1634,
                     1636,1639,1641,1659,1662,1664,1667,1669,1711,1714,1716,
                     1719,1721,1739,1742,1744,1747,1749)
                     /site_type="active"
                     /note="Leucine-rich repeats [active]"
                     /db_xref="CDD:238064"
     Region          1465..1486
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Site            order(1471..1472,1528,1584,1612,1666,1715,1717,1743)
                     /site_type="other"
                     /note="Substrate binding site [chemical binding]"
                     /db_xref="CDD:238064"
     Region          1487..1520
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1521..1548
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1549..1576
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1577..1604
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1605..1629
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1631..1658
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1659..1682
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1683..1710
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1711..1730
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1739..1766
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..1807
                     /gene="NLRC5"
                     /gene_synonym="CLR16.1; NOD27; NOD4"
                     /coded_by="XM_047434764.1:13..5436"
                     /db_xref="GeneID:84166"
                     /db_xref="HGNC:HGNC:29933"
                     /db_xref="MIM:613537"
ORIGIN      
        1 mdpvglqlgn knlwsclvrl ltkdpewlna kmkfflpntd ldsrnetldp eqrvilqlnk
       61 lhvqgsdtwq sfihcvcmql evpldlevll lstfgyddgf tsqlgaegks qpesqlhhgl
      121 krphqscgss prrkqckkqq lelakkylql lrtsaqqryr sqipgsgqph afhqvyvppi
      181 lrratasldt pegaimgdvk vedgadvsis dlfntrvnkg prvtvllgka gmgkttlahr
      241 lcqkwaeghl ncfqalflfe frqlnlitrf ltpsellfdl ylspesdhdt vfqyleknad
      301 qvllifdgld ealqpmgpdg pgpvltlfsh lcngtllpgc rvmatsrpgk lpaclpaeaa
      361 mvhmlgfdgp rveeyvnhff saqpsregal velqtngrlr slcavpalcq vaclclhhll
      421 pdhapgqsva llpnmtqlym qmvlalsppg hlptsslldl gevalrglet gkvifyakdi
      481 appliafgat hslltsfcvc tgpghqqtgy afthlslqef laalhlmasp kvnkdtltqy
      541 vtlhsrwvqr tkarlglsdh lptflaglas ctcrpflshl aqgnedcvga kqaavvqvlk
      601 klatrkltgp kvvelchcvd etqepelasl taqslpyqlp fhnfpltctd latltnileh
      661 reapihldfd gcplephcpe alvgcgqien lrlagskita rgishlvkal plcpqlkevs
      721 frdnqlsdqv vlnivevlph lprlrkldls snsicvstll clarvavtcp tvrmlqarea
      781 dlifllsppt ettaelqrap dlqesdgqrk gaqsrsltlr lqkcqlqvhd aealiallqe
      841 gphleevdls gnqledegcr lmaeaasqlh iarkldlsnn glsvagvhcv lravsacwtl
      901 aelhislqhk tvifmfaqep eeqkgpqera afldslmlqm pselplssrr mrlthcglqe
      961 khleqlckal ggschlghlh ldfsgnalgd egaarlaqll pglgalqsln lsenglslda
     1021 vlglvrcfst lqwlfrldis fesqhillrg dktsslsecp leppsltrlc atlkdcpgpl
     1081 elqlscefls dqsletlldc lpqlpqlsll qlsqtglspk spfllantls lcprvkkvdl
     1141 rslhhatlhf rsneeeegvc cgftgcslsq ehveslcwll skckdlsqvd lsanllgdsg
     1201 lrclleclpq vpisglldls hnsisqesal ylletlpscp rvreasvnlg seqsfrihfs
     1261 redqagktlr lsecsfrpeh vsrlatglsk slqlteltlt qcclgqkqla illslvgrpa
     1321 glfslrvqep wadrarvlsl levcaqasgs vteisisetq qqlcvqlefp rqeenpeava
     1381 lrlahcdlga hhsllvgqlm etcarlqqls lsqvnlcedd dasslllqsl llslselktf
     1441 rltsscvste glahlasglg hchhleeldl snnqfdeegt kalmralegk wmlkrldlsh
     1501 lllnsstlal lthrlsqmtc lqslrlnrns igdvgcchls ealraatsle eldlshnqig
     1561 dagvqhlati lpglpelrki dlsgnsissa ggvqlaeslv lcrrleelml gcnalgdpta
     1621 lglaqelpqh lrvlhlpfsh lgpggalsla qaldgsphle eislaennla ggvlrfcmel
     1681 pllrqidlvs ckidnqtakl ltssftscpa levillswnl lgdeaaaela qvlpqmgrlk
     1741 rvdleknqit algawllaeg laqgssiqvi rlwnnpipcd maqhlksqep rldfaffdnq
     1801 pqapwgt
//
LOCUS       XP_047290928             811 aa            linear   PRI 20-MAR-2023
DEFINITION  intraflagellar transport protein 140 homolog isoform X6 [Homo
            sapiens].
ACCESSION   XP_047290928
VERSION     XP_047290928.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434972.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..811
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..811
                     /product="intraflagellar transport protein 140 homolog
                     isoform X6"
                     /calculated_mol_wt=89881
     Region          <16..>147
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          21..55
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          65..99
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          102..434
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          106..144
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          217..258
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          268..320
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          327..351
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..811
                     /gene="IFT140"
                     /gene_synonym="c305C8.4; c380F5.1; gs114; MZSDS; RP80;
                     SRTD9; WDTC2"
                     /coded_by="XM_047434972.1:327..2762"
                     /db_xref="GeneID:9742"
                     /db_xref="HGNC:HGNC:29077"
                     /db_xref="MIM:614620"
ORIGIN      
        1 malyydhqie apdaagspsf iswhpvhpfl avayisttst gsvdiyleqg ecvpdthver
       61 pfrvaslcwh ptrlvlavgw etgevtvfnk qdkeqhtmpl thtaditvlr wspsgnclls
      121 gdrlgvlllw rldqrgrvqg tpllkheygk hlthcifrlp ppgedlvqla kaavsgdeka
      181 ldmfnwkkss sgsllkmgsh egllffvslm dgtvhyvdek gkttqvvsad stiqmlfyme
      241 krealvvvte nlrlslytvp pegkaeevmk vklsgktgrr adialiegsl lvmavgeaal
      301 rfwdiergen yilspdekfg fekgenmncv cyckvkglla agtdrgrvam wrkvpdflgs
      361 pgaegkdrwa lqtptelqgn itqiqwgsrk nllavnsvis vailserams shfhqqvaam
      421 qvspsllnvc flstgvahsl rtdmhisgvf atkdavavwn grqvaifels gaairsagtf
      481 lcetpvlamh eenvytvesn rvqvrtwqgt vkqlllfset egnpcfldic gnflvvgtdl
      541 ahfksfdlsr reakahcscr slaelvpgvg giaslrcsss gstisilpsk adnspdskic
      601 fydvemdtvt vfdfktgqid rretlsfneq etnkshlfvd eglknyvpvn hfwdqseprl
      661 fvceavqetp rsqpqsangq pqdgragpaa dvlilsffis eehgfllhes fprpatshsl
      721 lgmevpyyyf trkpeeadre devepgchhi pqmvsrrplr dfvgledcdk atrdamlhfs
      781 ffvtigdmde afksikliks ktdtpvsvta t
//
LOCUS       XP_047292512            1256 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase WNK4 isoform X3 [Homo sapiens].
ACCESSION   XP_047292512
VERSION     XP_047292512.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436556.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1256
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1256
                     /product="serine/threonine-protein kinase WNK4 isoform X3"
                     /calculated_mol_wt=135808
     Region          172..432
                     /region_name="STKc_WNK4"
                     /note="Catalytic domain of the Serine/Threonine protein
                     kinase, With No Lysine (WNK) 4; cd14033"
                     /db_xref="CDD:270935"
     Site            order(180..184,186,188,201,203,234,254..257,261,263,302,
                     304,306..307,309,321,324,338..341)
                     /site_type="active"
                     /db_xref="CDD:270935"
     Site            order(180..184,186,188,201,203,234,254..257,261,302,304,
                     306..307,309,321)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270935"
     Site            order(184,261,263,302,304,306,324,338..341)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270935"
     Site            320..341
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270935"
     Region          453..515
                     /region_name="OSR1_C"
                     /note="Oxidative-stress-responsive kinase 1 C-terminal
                     domain; pfam12202"
                     /db_xref="CDD:432397"
     Region          <808..1051
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..1256
                     /gene="WNK4"
                     /gene_synonym="PHA2B; PRKWNK4"
                     /coded_by="XM_047436556.1:90..3860"
                     /db_xref="GeneID:65266"
                     /db_xref="HGNC:HGNC:14544"
                     /db_xref="MIM:601844"
ORIGIN      
        1 mlaspatett vlmsqteadl alrpppplgt agqprlgppp rrarrfsgka eprprssrls
       61 rrssvdlgll sswslpaspa pdppdppdsa gpgparsppp sskeppegtw tegapvkaae
      121 dsarpelpds avgpgsrepl rvpeavaler rreqeekedm etqavatspd grylkfdiei
      181 grgsfktvyr gldtdttvev awcelqtrkl sraerqrfse evemlkglqh pnivrfydsw
      241 ksvlrgqvci vlvtelmtsg tlktylrrfr emkprvlqrw srqilrglhf lhsrvppilh
      301 rdlkcdnvfi tgptgsvkig dlglatlkra sfaksvigtp efmapemyee kydeavdvya
      361 fgmcmlemat seypysecqn aaqiyrkvts grkpnsfhkv kipevkeiie gcirtdkner
      421 ftiqdllaha ffreergvhv elaeeddgek pglklwlrme darrggrprd nqaieflfql
      481 grdaaeevaq emvalglvce adyqpvarav rervaaiqrk reklrkarel ealppepgpp
      541 patvpmapgp psvfppepee peadqhqpfl frhasysstt sdcetdgyls ssgfldasdp
      601 alqppggvps slaeshlclp safalsiprs gpgsdfspgd syasdaasgl sdvgegmgqm
      661 rrppgrnlrr rprsrlrvts vsdqndrvve cqlqthnskm vtfrfdldgd speeiaaame
      721 epaplpalpv plpdpsneel qsstslehrs wtafstssss pgtplspgnp fspgtpispg
      781 pifpitsppc hpspspfspi ssqvssnpsp hptssplpfs sstpefpvpl sqcpwsslpt
      841 tspptfsptc sqvtlsspff ppcpstssfp sttaapllsl asafslavmt vaqsllspsp
      901 gllsqsppap psplpslplp ppvapggqes psphtaeves easppparpl pgearlapis
      961 eegkpqlvgr fqvtsskepa eplplqptsp tlsgspkpst pqltsessdt edsagggpet
     1021 realaesdra aeglgagvee egddgkepqv ggspqplshp spvwmnysys slclsseese
     1081 ssgedeefwa elqslrqkhl sevetlqtlq kkeiedlysr lgkqpppgiv apaamlssrq
     1141 rrlskgsfpt srrnslqrse ppgpgimrrn slsgsstgsq eqraskgvtf agdvgrmvra
     1201 gpregeprew ylaaaspssh lggffitfsf pssefrteam ylphtrahhg acvlri
//
LOCUS       XP_016880677             282 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear distribution protein nudE-like 1 isoform X5 [Homo sapiens].
ACCESSION   XP_016880677
VERSION     XP_016880677.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017025188.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..282
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..282
                     /product="nuclear distribution protein nudE-like 1 isoform
                     X5"
                     /calculated_mol_wt=31978
     Region          <37..>208
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          148..>277
                     /region_name="NUDE_C"
                     /note="NUDE protein, C-terminal conserved region;
                     pfam04880"
                     /db_xref="CDD:428169"
     CDS             1..282
                     /gene="NDEL1"
                     /gene_synonym="EOPA; MITAP1; NDE1L1; NDE2; NUDEL"
                     /coded_by="XM_017025188.2:386..1234"
                     /db_xref="GeneID:81565"
                     /db_xref="HGNC:HGNC:17620"
                     /db_xref="MIM:607538"
ORIGIN      
        1 mfyslqnaaa flimdgedip dfsslkeeta ywkelslkyk qsfqeardel vefqegsrel
       61 eaeleaqlvq aeqrnrdlqa dnqrlkyeve alkeklehqy aqsykqvsvl eddlsqtrai
      121 keqlhkyvre leqanddler akrativsle dfeqrlnqai ernaflesel dekesllvsv
      181 qrlkdeardl rqelavrerq qevtrksaps sptldcekmd savqaslslp atpvgkgten
      241 tfpspkaipn gfgtspltps arisalnivg dllrkvggsk rl
//
LOCUS       XP_016882612             423 aa            linear   PRI 20-MAR-2023
DEFINITION  doublesex- and mab-3-related transcription factor C2 isoform X1
            [Homo sapiens].
ACCESSION   XP_016882612
VERSION     XP_016882612.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027123.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..423
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..423
                     /product="doublesex- and mab-3-related transcription
                     factor C2 isoform X1"
                     /calculated_mol_wt=45264
     Region          43..89
                     /region_name="DM"
                     /note="DM DNA binding domain; pfam00751"
                     /db_xref="CDD:425850"
     Region          244..422
                     /region_name="DMRT-like"
                     /note="Doublesex-and mab-3-related transcription factor C1
                     and C2; pfam15791"
                     /db_xref="CDD:434939"
     CDS             1..423
                     /gene="DMRTC2"
                     /coded_by="XM_017027123.2:85..1356"
                     /db_xref="GeneID:63946"
                     /db_xref="HGNC:HGNC:13911"
                     /db_xref="MIM:614806"
ORIGIN      
        1 mrirsmepsd mpagyhcpld sapwdetrdp qsteliprra isrsptcarc rnhgvtahlk
       61 ghkrlclfqa cechkcvlil errrvmaaqv alrrqqeaql kkhlmrrgea spkapnhfrk
      121 gttqpqvpsg keniapqpqt phgavllapt ppgknscgpl llshppeasp lswtpvppgp
      181 wvpghwlppg fsmpppvvcr llyqepavsl ppfpgfdpgt slqlpthgpf ttcpgshpvl
      241 taplsgepqg ppsqprthst lilqpcgtpd plqlqpqvlg kkwdlgpwee vepgegksrk
      301 lkeagaeehl eggqkrgfpv clspfplqas gasclartsg psewqlqqea aealvglkds
      361 sqaprvtpsv ppnpawisll hpcgppapag grgfqpvgpc lrpspapsva lhigrlgsis
      421 lls
//
LOCUS       XP_047299438             444 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA pseudouridine synthase Pus10 isoform X3 [Homo sapiens].
ACCESSION   XP_047299438
VERSION     XP_047299438.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443482.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..444
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..444
                     /product="tRNA pseudouridine synthase Pus10 isoform X3"
                     /calculated_mol_wt=50515
     Region          <203..438
                     /region_name="PRK14554"
                     /note="tRNA pseudouridine(54/55) synthase Pus10"
                     /db_xref="CDD:237754"
     CDS             1..444
                     /gene="PUS10"
                     /gene_synonym="CCDC139; DOBI; Hup10"
                     /coded_by="XM_047443482.1:117..1451"
                     /db_xref="GeneID:150962"
                     /db_xref="HGNC:HGNC:26505"
                     /db_xref="MIM:612787"
ORIGIN      
        1 mfplteenkh vaqlllntgt cprcifrfcg vdfhapyklp ykvcqkveas gfeftslvfs
       61 vsfppqlsvr ehaawllvkq emgkqslslg rddivqlkea ykwithplfs eelgvpidgk
      121 slfevsvvfa hpetvedchf laaicpdcfk paknkqsvft rmavmkalnk ikeedflkqf
      181 pcppnspkav cavleiecah gavfvagryn kysrnlpqtp wiidgerkle ssveelisdh
      241 llavfkaesf nfsssgredv dvrtlgngrp faielvnphr vhftsqeike lqqkinnssn
      301 kiqvrdlqlv treaighmke geeektktys aliwtnkaiq kkdieflndi kdlkidqktp
      361 lrvlhrrpla vrarvihfme tqyvdehhfr lhlktqagty ikefvhgdfg rtkpnigslm
      421 nvtadileld vesvdvdwpp aldd
//
LOCUS       XP_006712394             624 aa            linear   PRI 20-MAR-2023
DEFINITION  cation channel sperm-associated targeting subunit tau isoform X8
            [Homo sapiens].
ACCESSION   XP_006712394
VERSION     XP_006712394.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006712331.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..624
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..624
                     /product="cation channel sperm-associated targeting
                     subunit tau isoform X8"
                     /calculated_mol_wt=71099
     Region          84..503
                     /region_name="ALS2CR11"
                     /note="Amyotrophic lateral sclerosis 2 candidate 11;
                     pfam15729"
                     /db_xref="CDD:434889"
     CDS             1..624
                     /gene="C2CD6"
                     /gene_synonym="ALS2CR11; SPGF68"
                     /coded_by="XM_006712331.4:49..1923"
                     /db_xref="GeneID:151254"
                     /db_xref="HGNC:HGNC:14438"
                     /db_xref="MIM:619776"
ORIGIN      
        1 meppqetnrp fstldnrsgq vqvlsatpll qrnpysspdi mhikgseass vpyalnqgtt
       61 alpknknqeg tghrllnmlr ktlkesdsee leitqetpnl vpfgdvvgcl gihikncrhf
      121 mpkislqhya nlfirisink avkctkmcsl lskndekntv ikfdevkyfs vqvprryddk
      181 rnnilleliq ydnrekrafl lgsvqihlye viqkgcfiee vqvlhgnifv crlevefmfs
      241 ygnfgygfsh qlkplqkite psmfmnlapp pertdpvtkv itpqtveypa flspdlnvtv
      301 gtpavqssnq psvvrleklq qqprerlekm kkeyrnlntw idkanylesi lmpklehkds
      361 eetnidease ntksnhpeee lenivgvadi plvneeaett anelldndse kgltiptlnq
      421 sdqdnstada skndestpsp tevhslctis nqetikagri pplgerqses mpdrkmknvf
      481 fplevklkdn ypsilkadss lsevafspke ynspsfrpey iefkpkfqdc sdkfedlhdm
      541 tsfthlkkvk srsrllgkss ddihnharhs arpytapevn kqresysgkf tsrrmvssgl
      601 vhindktsdy emhkmrpkki krgy
//
LOCUS       XP_016859326             345 aa            linear   PRI 20-MAR-2023
DEFINITION  SH2 domain-containing protein 6 isoform X1 [Homo sapiens].
ACCESSION   XP_016859326
VERSION     XP_016859326.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017003837.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..345
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..345
                     /product="SH2 domain-containing protein 6 isoform X1"
                     /calculated_mol_wt=37465
     Region          <101..>221
                     /region_name="SP1-4_N"
                     /note="N-terminal domain of transcription factor
                     Specificity Proteins (SP) 1-4; cl41773"
                     /db_xref="CDD:425404"
     Region          223..344
                     /region_name="SH2_BLNK_SLP-76"
                     /note="Src homology 2 (SH2) domain found in B-cell linker
                     (BLNK) protein and SH2 domain-containing leukocyte protein
                     of 76 kDa (SLP-76); cd09929"
                     /db_xref="CDD:198183"
     Site            order(242,261,284,286)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198183"
     Site            order(285,319)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198183"
     CDS             1..345
                     /gene="SH2D6"
                     /gene_synonym="SLNK"
                     /coded_by="XM_017003837.2:1520..2557"
                     /db_xref="GeneID:284948"
                     /db_xref="HGNC:HGNC:30439"
ORIGIN      
        1 mqlcthghql cpqppsllpw yqgtcqshch gcecprtqrl shrnsrapwa eltrmclqag
       61 ataptpqmcg lprlerrcsq pflpacprdl etqdhsgplg pskpspplpq ptmlkgavsl
      121 pvagkqgpif grreqgassr vvpgppkkpd edlylecepd pvlaltqtls fqvlmpsgpl
      181 prtsvvprpt tapqetrngt adaaskegrk sslpsvaptg sasaaedsdl ltqpwysgnc
      241 dryavesall hlqkdgaytv rpssgphgsq pftlavllrg rvfnipirrl dggrhyalgr
      301 egrnreelfs svaamvqhfm whplplvdrh sgsreltcll fptkp
//
LOCUS       XP_016859384             572 aa            linear   PRI 20-MAR-2023
DEFINITION  RUN and FYVE domain-containing protein 4 isoform X3 [Homo sapiens].
ACCESSION   XP_016859384
VERSION     XP_016859384.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017003895.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..572
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..572
                     /product="RUN and FYVE domain-containing protein 4 isoform
                     X3"
                     /calculated_mol_wt=64290
     Region          12..162
                     /region_name="RUN"
                     /note="RUN domain; cl45896"
                     /db_xref="CDD:459241"
     Region          <405..>520
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          521..563
                     /region_name="FYVE_RUFY4"
                     /note="FYVE-related domain found in RUN and FYVE
                     domain-containing protein 4 (RUFY4) and similar proteins;
                     cd15745"
                     /db_xref="CDD:277284"
     CDS             1..572
                     /gene="RUFY4"
                     /gene_synonym="ZFYVE31"
                     /coded_by="XM_017003895.2:413..2131"
                     /db_xref="GeneID:285180"
                     /db_xref="HGNC:HGNC:24804"
ORIGIN      
        1 maeegailkv tkdlraaavs ailqgygdgq gpvtdtsael hrlcgclell lqfdqkeqks
       61 flgprkdywd flctalrrqr gnmepihfvr sqdklktplg kgrafirfcl argqlaealq
      121 lcllnseltr ewygprspll cperqedild slyalngvaf eldlqqpdld gawpmfsesr
      181 cssstqtqgr rprknkdapk kipaayggpe nvqiedshts qaiclqdaps gqqlaglprs
      241 qqqrhlpffl ekkgessrkh rypqsmwepe gkelqldqee rapwieiflg nstpstqgqg
      301 kgamgtqkev igmeaevtgv llvaegqrtt egthkkeaew shvqrllmps prgavegavs
      361 gsrqgsggss ilgepwvlqg hatkedstve npqvqtevtl varreeqaev slqdeikslr
      421 lglrkaeeqa qrqeqllreq egelqalreq lsrcqeerae lqaqleqkqq eaerrdamyq
      481 eelggqrdlv qamkrrvlel iqekdrlwqr lqhlssmape ccvacskifg rfsrrypcrl
      541 cggllchacs mdykkrdrcc ppcaqgreaq vt
//
LOCUS       XP_016859647            1015 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-Ib isoform X7 [Homo sapiens].
ACCESSION   XP_016859647
VERSION     XP_016859647.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004158.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1015
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1015
                     /product="unconventional myosin-Ib isoform X7"
                     /calculated_mol_wt=118033
     Region          1..567
                     /region_name="MYSc_Myo1"
                     /note="class I myosin, motor domain; cd01378"
                     /db_xref="CDD:276829"
     Site            34..44
                     /site_type="other"
                     /note="switch I region"
                     /db_xref="CDD:276829"
     Site            266..271
                     /site_type="other"
                     /note="switch II region"
                     /db_xref="CDD:276829"
     Site            order(295..306,309..316,318)
                     /site_type="other"
                     /note="relay loop"
                     /db_xref="CDD:276829"
     Site            499..509
                     /site_type="other"
                     /note="SH1 helix"
                     /db_xref="CDD:276829"
     Site            order(511..537,554..567)
                     /site_type="other"
                     /note="converter subdomain"
                     /db_xref="CDD:276829"
     Region          628..650
                     /region_name="IQ"
                     /note="Calmodulin-binding motif; smart00015"
                     /db_xref="CDD:197470"
     Region          820..997
                     /region_name="Myosin_TH1"
                     /note="Unconventional myosin tail, actin- and
                     lipid-binding; pfam06017"
                     /db_xref="CDD:428724"
     CDS             1..1015
                     /gene="MYO1B"
                     /gene_synonym="MMI-alpha; MMIa; MYH-1c; myr1"
                     /coded_by="XM_017004158.2:208..3255"
                     /db_xref="GeneID:4430"
                     /db_xref="HGNC:HGNC:7596"
                     /db_xref="MIM:606537"
ORIGIN      
        1 msyvaavcgk gaevnqvkeq llqsnpvlea fgnaktvrnd nssrfgkymd iefdfkgdpl
       61 ggvisnylle ksrvvkqprg ernfhvfyql lsgaseelln klklerdfsr ynylsldsak
      121 vngvddaanf rtvrnamqiv gfmdheaesv lavvaavlkl gniefkpesr vngldeskik
      181 dknelkeice ltgidqsvle rafsfrtvea kqekvsttln vaqayyarda laknlysrlf
      241 swlvnrines ikaqtkvrkk vmgvldiygf eifednsfeq fiinycnekl qqifieltlk
      301 eeqeeyired iewthidyfn naiicdlien ntngilamld eeclrpgtvt detfleklnq
      361 vcathqhfes rmskcsrfln dtslphscfr iqhyagkvly qvegfvdknn dllyrdlsqa
      421 mwkashalik slfpegnpak inlkrpptag sqfkasvatl mknlqtknpn yircikpndk
      481 kaahifneal vchqirylgl lenvrvrrag yafrqayepc lerykmlckq twphwkgpar
      541 sgvevlfnel eipveeysfg rskifirnpr tlfkledlrk qrledlatli qkiyrgwkcr
      601 thfllmkksq iviaawyrry aqqkryqqtk ssalviqsyi rgwkarkilr elkhqkrcke
      661 avttiaaywh gtqarrelrr lkeearnkha iaviwaywlg skarrelkrl keearrkhav
      721 aviwaywlgl kvrreyrkff ranagkkiye ftlqrivqky flemknkmps lspidknwps
      781 rpylfldsth kelkrifhlw rckkyrdqft dqqkliyeek leaselfkdk kalypssvgq
      841 pfqgaylein knpkykklkd aieekiiiae vvnkinrang kstsrifllt nnnllladqk
      901 sgqiksevpl vdvtkvsmss qndgffavhl kegseaaskg dflfssdhli ematklyrtt
      961 lsqtkqklni eisdeflvqf rqdkvcvkfi qgnqkngsvp tckrknnrll evavp
//
LOCUS       XP_047300892            1550 aa            linear   PRI 20-MAR-2023
DEFINITION  dedicator of cytokinesis protein 10 isoform X21 [Homo sapiens].
ACCESSION   XP_047300892
VERSION     XP_047300892.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444936.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1550
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1550
                     /product="dedicator of cytokinesis protein 10 isoform X21"
                     /calculated_mol_wt=177179
     Region          28..217
                     /region_name="C2_Dock-D"
                     /note="C2 domains found in Dedicator Of CytoKinesis (Dock)
                     class C proteins; cd08697"
                     /db_xref="CDD:176079"
     Region          1053..1498
                     /region_name="DHR2_DOCK10"
                     /note="Dock Homology Region 2, a GEF domain, of Class D
                     Dedicator of Cytokinesis 10; cd11699"
                     /db_xref="CDD:212572"
     Site            order(1191,1201,1203..1204,1206..1207,1210..1211,
                     1213..1214,1217..1218)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:212572"
     Site            order(1225..1228,1259..1260,1262..1265,1267..1268,
                     1287..1289,1306,1308,1337,1339,1346..1347,1353,1355,
                     1392..1393,1396,1410,1412,1416,1419..1421,1424..1430,1433,
                     1461,1479..1480,1482..1483,1486)
                     /site_type="other"
                     /note="Cdc42 binding site [polypeptide binding]"
                     /db_xref="CDD:212572"
     Site            1424..1429
                     /site_type="other"
                     /note="nucleotide sensor"
                     /db_xref="CDD:212572"
     CDS             1..1550
                     /gene="DOCK10"
                     /gene_synonym="DRIP2; Nbla10300; ZIZ3"
                     /coded_by="XM_047444936.1:88..4740"
                     /db_xref="GeneID:55619"
                     /db_xref="HGNC:HGNC:23479"
                     /db_xref="MIM:611518"
ORIGIN      
        1 mmaqteptve veefvydstk ycrpyrvykn qiyiypkhlk ydsqkcfnka rnitvciefk
       61 nsdeesakpl kciygkpggp lftsaaytav lhhsqnpdfs devkielptq lhekhhilfs
      121 fyhvtcdina kanakkkeal etsvgyawlp lmkhdqiasq eynipiatsl ppnylsfqds
      181 asgkhggsdi kwvdggkplf kvstfvvstv ntqdphvnaf fqecqkrekd msqsptsnfi
      241 rscknllnve kihaimsflp iilnqlfkvl vqneedeitt tvtrvltdiv akcheeqldh
      301 svqsyikfvf ktrackertv heelaknvtg llksndsttv khvlkhswff faiilksmaq
      361 hlidtnkiql prpqrfpesy qneldnlvmv lsdhviwkyk daleetrran hsvarflkrc
      421 ftfmdrgyvf kmvnnyismf ssgdlktlcq ykfdflqevc qhehfiplcl pirsanipdp
      481 ltpsestqel hasdmpeysv tnefcrkhfl igillrevgf alqedqdvrh lalavlknlm
      541 akhsfddryr eprkqaqias lymplygmll dnmpriylkd lypftvntsn qgsrddlstn
      601 ggfqsqtaik hansvdtsfs kdvlnsiaaf ssiaistvnh adsraslasl dsnpstneks
      661 sektdnceki prplsligst lrfdkldqae trsllmcflh imktisyetl iaywqrapsp
      721 evsdffsild vclqnfrylg krniirkiaa afkfvqstqn ngtlkgsnps cqtsgllsqw
      781 mhstsshegh kqhrsqtlpi irgknalsnp kllqmldntm tsnsneidiv hhvdteania
      841 tevcltildl lslftqthqr qlqqcdcqns lmkrvfdtym lffqvnqsat alkhvfaslr
      901 lfvckfpsaf fqgpadlcgs fcyevlkccn hrsrstqtea sallyffmrk nfefnkqksi
      961 vrshlqlika vsqliadagi ggsrfqhsla itnnfangdk qmknsnfpae vkdltkrirt
     1021 vlmataqmke hekdpemlvd lqyslansya stpelrrtwl esmakiharn gdlseaamcy
     1081 ihiaaliaey lkrkgywkve kictasllse dthpcdsnsl lttpsggsmf smgwpaflsi
     1141 tpnikeegam kedsgmqdtp ynenilveql ymcveflwks eryeliadvn kpiiavfekq
     1201 rdfkklsdly ydihrsylkv aevvnsekrl fgryyrvafy gqgffeeeeg keyiykepkl
     1261 tglseisqrl lklyadkfga dnvkiiqdsn kvnpkdldpk yayiqvtyvt pffeekeied
     1321 rktdfemhhn inrfvfetpf tlsgkkhggv aeqckrrtil ttshlfpyvk kriqvisqss
     1381 telnpievai demskkvsel nqlctmeevd mirlqlklqg svsvkvnagp mayaraflee
     1441 tnakkypdnq vkllkeifrq fadacgqald vnerlikedq leyqeelrsh ykdmlselst
     1501 vmneqlcrgp clysfcssvs sislstvsks dygqgrpvka rsgpnlhssn
//
LOCUS       XP_005260321            2365 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosome-associated protein CEP250 isoform X4 [Homo sapiens].
ACCESSION   XP_005260321
VERSION     XP_005260321.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005260264.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2365
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..2365
                     /product="centrosome-associated protein CEP250 isoform X4"
                     /calculated_mol_wt=272147
     Region          39..213
                     /region_name="Rootletin"
                     /note="Ciliary rootlet component, centrosome cohesion;
                     pfam15035"
                     /db_xref="CDD:434408"
     Region          241..980
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          713..1475
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          1182..1942
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          <1909..>2339
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     CDS             1..2365
                     /gene="CEP250"
                     /gene_synonym="C-NAP1; CEP2; CNAP1; CRDHL2"
                     /coded_by="XM_005260264.5:376..7473"
                     /db_xref="GeneID:11190"
                     /db_xref="HGNC:HGNC:1859"
                     /db_xref="MIM:609689"
ORIGIN      
        1 metrspglnn mkpqslqlvl eeqvlalqqq maenqaaswr klknsqeaqq rqatlvrklq
       61 akvlqyrswc qelekrleat ggpipqrwen veepnldell vrleeeqqrc eslaevntql
      121 rlhmekadvv nkalredvek ltvdwsrard elmrkesqwq meqeffkgyl kgehgrllsl
      181 wrevvtfrrh flemksatdr dlmelkaehv rlsgslltcc lrltvgaqsr epngsgrmdg
      241 repaqlllll aktqelekea hersqeliql ksqgdlekae lqdrvtelsa lltqsqkqne
      301 dyekmikalr etveiletnh telmeheasl srnaqeekls lqqvikditq vmveegdnia
      361 qgsghensle ldssifsqfd yqdadkaltl vrsvltrrrq avqdlrqqla gcqeavnllq
      421 qqhdqweeeg kalrqrlqkl tgerdtlagq tvdlqgevds lskerellqk areelrqqle
      481 vleqeawrlr rvnvelqlqg dsaqgqkeeq qeelhlavre rerlqemlmg leakqsesls
      541 elitlreale sshlegellr qeqtevtaal araeqsiael sssentlkte vadlraaavk
      601 lsalnealal dkvglnqqll qsrhqqeaat tqleqlhqea krqeevlara vqekealvre
      661 kaalevrlqa verdrqdlae qlqglssake llesslfeaq qqnsvievtk gqlevqiqtv
      721 tqakeviqge vrclkleldt ersqaeqerd aaarqlaqae qegktaleqq kaahekevnq
      781 lrekwekers whqqelakal eslerekmel emrlkeqqte meaiqaqree ertqaesalc
      841 qmqleteker vslletllqt qkeladasqq lerlrqdmkv qklkeqettg ilqtqlqeaq
      901 relkeaarqh rddlaalqee sssllqdkmd lqkqvedlks qlvaqddsqr lveqevqekl
      961 retqeynriq kelerekasl tlslmekeqr llvlqeadsi rqqelsalrq dmqeaqgeqk
     1021 elsaqmellr qevkekeadf laqeaqllee leashiteqq lraslwaqea kaaqlqlrlr
     1081 stesqleala aeqqpgnqaq aqaqlaslys alqqalgsvc esrpelsggg dsapsvwgle
     1141 pdqngarslf krgplltals aeavasalhk lhqdlwktqq trdvlrdqvq kleerltdte
     1201 aeksqvhtel qdlqrqlsqn qeekskwegk qnsleselme lhetmaslqs rlrraelqrm
     1261 eaqgerellq aakenltaqv ehlqaavvea raqasaagil eedlrtarsa lklkneeves
     1321 ereraqalqe qgelkvaqgk alqenlallt qtlaereeev etlrgqiqel ekqremqkaa
     1381 lellsldlkk rnqevdlqqe qiqelekcrs vlehlpmavq ereqkltvqr eqirelekdr
     1441 etqrnvlehq llelekkdqm iesqrgqvqd lkkqlvtlec laleleenhh kmecqqklik
     1501 elegqretqr valthltldl eersqelqaq ssqihdlesh stvlarelqe rdqevksqre
     1561 qieelqrqke hltqdlerrd qelmlqkeri qvledqrtrq tkileedleq iklslrergr
     1621 elttqrqlmq eraeegkgps kaqrgslehm klilrdkeke vecqqehihe lqelkdqleq
     1681 qlqglhrkvg etslllsqre qeivvlqqql qeareqgelk eqslqsqlde aqralaqrdq
     1741 elealqqeqq qaqgqeervk ekadalqgal eqahmtlker hgelqdhkeq arrleeelav
     1801 egrrvqalee vlgdlraesr eqekallalq qqcaeqaqeh evetralqds wlqaqavlke
     1861 rdqelealra esqssrhqee aararaealq ealgkahaal qgkeqhlleq aelsrsleas
     1921 tatlqaslda cqahsrqlee alriqegeiq dqdlryqedv qqlqqalaqr deelrhqqer
     1981 eqllekslaq rvqenmiqek qnlgqereee eirglhqsvr elqltlaqke qeilelretq
     2041 qrnnlealph shktspmeeq slkldslepr lqrelerlqa alrqtearei ewrekaqdla
     2101 lslaqtkasv sslqevamfl qasvlerdse qqrlqdelel trralekerl hspgatstae
     2161 lgsrgeqgvq lgevsgveae pspdgmekqs wrqrlehlqq avarleidrs rlqrhnvqlr
     2221 stleqverer rklkreamra aqagsleisk atassptqqd grgqknsdak cvaelqkevv
     2281 llqaqltler kqkqdyitrs aqtsrelagl hhslshslla vaqapeatvl eaetrrldes
     2341 ltqsltspgp vllhpspstt qaasr
//
LOCUS       XP_047304435            1480 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase SETD5 isoform X6 [Homo sapiens].
ACCESSION   XP_047304435
VERSION     XP_047304435.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448479.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1480
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1480
                     /product="histone-lysine N-methyltransferase SETD5 isoform
                     X6"
                     /calculated_mol_wt=161309
     Region          285..434
                     /region_name="SET_SETD5"
                     /note="SET domain (including post-SET domain) found in SET
                     domain-containing protein 5 (SETD5) and similar proteins;
                     cd19181"
                     /db_xref="CDD:380958"
     Site            order(302..303,320,330,340..347,367..371,379,395,406..412)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:380958"
     Site            order(302..303,340..343,367..371,408)
                     /site_type="other"
                     /note="putative SAM binding site"
                     /db_xref="CDD:380958"
     Region          <453..>673
                     /region_name="COG5644"
                     /note="U3 small nucleolar RNA-associated protein 14
                     [Function unknown]"
                     /db_xref="CDD:227931"
     Region          <1340..1447
                     /region_name="PLN02217"
                     /note="probable pectinesterase/pectinesterase inhibitor"
                     /db_xref="CDD:215130"
     CDS             1..1480
                     /gene="SETD5"
                     /gene_synonym="MRD23; SETD5A"
                     /coded_by="XM_047448479.1:553..4995"
                     /db_xref="GeneID:55209"
                     /db_xref="HGNC:HGNC:25566"
                     /db_xref="MIM:615743"
ORIGIN      
        1 msiaiplgvt tsdtsysdma agsdpesvea spavneksvy sthnygttqr hgcrglpyad
       61 hnygappppt ppasppvqti iprsdlnglp spveercgds pnsegetvpt wcpcglsqdg
      121 fllncdkcrg msrgkvirlh rrkqdnisgg dssateswde elspstvlyt atqhtptsit
      181 ltvrrtkpkk rkkspekgra apktkkikns pseaqnlden ttegwenrir lwtdqyeeaf
      241 tnqysadvqn aleqhlhssk efvgkptild tinktelacn ntvigsqmql qlgrvtrvqk
      301 hrkilraard laldtliiey rgkvmlrqqf evnghffkkp ypfvlfyskf ngvemcvdar
      361 tfgndarfir rsctpnaevr hmiadgmihl ciyavsaitk daevtiafdy eysncnykvd
      421 cachkgnrnc piqkrnpnat elpllpppps lptigaetrr rkarrkelem eqqneaseen
      481 ndqqsqevpe kvtvssdhee vdnpeekpee ekeeviddqe nlahsrrtre drkveaimha
      541 fenlekrkkr rdqpleqsns dveittttse tpvgeetkte apesevsnsv snvtipstpq
      601 svgvntrrss qagdiaaekl vpkpppakps rprpksrisr yrtssaqrlk rqkqanaqqa
      661 elsqaaleeg gsnslvtpte agsldssgen rpltgsdptv vsitgshvnr aaskypktkk
      721 ylvtewlndk aekqecpvec plrittdptv lattlnmlpg lihsplictt pkhyirfgsp
      781 fiperrrrpl lpdgtfssck krwikqalee gmtqtssvpq etrtqhlyqs nensssssic
      841 kdnadllspl kkwksrylme qnvtkllrpl spvtppppns gskspqlatp gsshpgeeec
      901 rngyslmfsp vtslttasrc ntplqfenis spesspahrp eslspelchr kdldlakvgy
      961 ldsntnscad rpsllnsghs dlaphpslgp tsetgfpsrs gdghqtlvrn sdqafrtefn
     1021 lmyaysplna mpradglyrg splvgdrkpl hldggycspa egfssryehg lmkdlsrgsl
     1081 spggeraceg vpsapqnppq rkkvslleyr krkqeakens aggggdsaqs ksksagagqg
     1141 ssnsvsdtga hgvqgssart pssphkkfsp shssmshlea vspsdsrgts sshcrpqeni
     1201 ssrwmvptsv erlreggsip kvlrssvrva qkgepsptwe snitekdsdp adgegpetls
     1261 salskgatvy spsrysyqll qcdsprtesq sllqqssspf rghptqspgy syrttalrpg
     1321 nppshgsses slsstsyssp ahpvstdsla pftgtpgyfs sqphsgnstg snlprrscps
     1381 saasptlqgp sdsptsdsvs qsstgtlsst sfpqnsrssl psdlrtislp sagqsavyqa
     1441 srvsavsnsq hyphrgsggv hqyrlqplqg sgvktqtgls
//
LOCUS       XP_047305571             676 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-alanine-activating enzyme isoform X4 [Homo sapiens].
ACCESSION   XP_047305571
VERSION     XP_047305571.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449615.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..676
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..676
                     /product="beta-alanine-activating enzyme isoform X4"
                     /calculated_mol_wt=75088
     Region          <1..111
                     /region_name="AFD_class_I"
                     /note="Adenylate forming domain, Class I superfamily;
                     cl17068"
                     /db_xref="CDD:450147"
     Region          135..>186
                     /region_name="PP-binding"
                     /note="Phosphopantetheine attachment site; pfam00550"
                     /db_xref="CDD:425746"
     Region          335..>564
                     /region_name="PQQ"
                     /note="Outer membrane protein assembly factor BamB,
                     contains PQQ-like beta-propeller repeat [Cell
                     wall/membrane/envelope biogenesis]; COG1520"
                     /db_xref="CDD:224437"
     Region          467..>675
                     /region_name="PQQ_DH_like"
                     /note="PQQ-dependent dehydrogenases and related proteins;
                     cl11493"
                     /db_xref="CDD:448285"
     CDS             1..676
                     /gene="AASDH"
                     /gene_synonym="ACSF4; LYS2; NRPS1098; NRPS998"
                     /coded_by="XM_047449615.1:487..2517"
                     /db_xref="GeneID:132949"
                     /db_xref="HGNC:HGNC:23993"
                     /db_xref="MIM:614365"
ORIGIN      
        1 mratgdfvtv kdgeifflgr kdsqikrhgk rlnielvqqv aeelqqvesc avtwynqekl
       61 ilfmvskdas vkeyifkelq kylpshavpd elvlidslpf tshgkidvse lnkiylnyin
      121 lksenklsgk edlweklqyl wkstlnlped llrvpdeslf lnsggdslks irllseiekl
      181 vgtsvpglle iilsssilei ynhilqtvvp dedvtfrksc atkrklsdin qeeasgtslh
      241 qkaimtftch neinafvvls rgsqilslns trfltklghc ssacpsdsvs qtniqnlkgl
      301 nspvligksk dpscvakvse egkpaigtqk melhvrwrsd tgkcvdaspl vviptfdkss
      361 ttvyigshsh rmkavdfysg kvkweqilgd riessacvsk cgnfivvgcy nglvyvlksn
      421 sgekywmftt edavkssatm dpttgliyig shdqhayald iyrkkcvwks kcggtvfssp
      481 clnliphhly fatlggllla vnpatgnviw khscgkplfs spqccsqyic igcvdgnllc
      541 fthfgeqvwq fstsgpifss pctspseqki ffgshdcfiy ccnmkghlqw kfettsrvya
      601 tpfafhnyng snemllaaas tdgkvwiles qsgqlqsvye lpgevfsspv vlesmliigc
      661 rdnyvycldl lggnqk
//
LOCUS       XP_016863830             942 aa            linear   PRI 20-MAR-2023
DEFINITION  la-related protein 1B isoform X13 [Homo sapiens].
ACCESSION   XP_016863830
VERSION     XP_016863830.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017008341.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..942
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..942
                     /product="la-related protein 1B isoform X13"
                     /calculated_mol_wt=109084
     Region          <110..>280
                     /region_name="LHP1"
                     /note="La protein, small RNA-binding pol III transcript
                     stabilizing protein and related La-motif-containing
                     proteins involved in translation [Posttranslational
                     modification, protein turnover, chaperones / Translation,
                     ribosomal structure and biogenesis]; COG5193"
                     /db_xref="CDD:227520"
     Region          216..288
                     /region_name="LAM"
                     /note="LA motif RNA-binding domain; cl02755"
                     /db_xref="CDD:445906"
     Site            order(222,225..226,231,234..235,237,256..258)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:153396"
     Region          735..775
                     /region_name="DM15"
                     /note="Tandem repeat in fly CG14066 (La related protein),
                     human KIAA0731 and worm R144.7. Unknown function;
                     smart00684"
                     /db_xref="CDD:128927"
     Region          776..814
                     /region_name="DM15"
                     /note="Tandem repeat in fly CG14066 (La related protein),
                     human KIAA0731 and worm R144.7. Unknown function;
                     smart00684"
                     /db_xref="CDD:128927"
     CDS             1..942
                     /gene="LARP1B"
                     /gene_synonym="LARP2"
                     /coded_by="XM_017008341.2:116..2944"
                     /db_xref="GeneID:55132"
                     /db_xref="HGNC:HGNC:24704"
ORIGIN      
        1 menwptpsel vntgfqsvls qgnkkpqnrk ekeekvekrs nsdskenret klngpgenvs
       61 edeaqssnqr krankhkwvp lhldvvrses qerpgsrnss rcqpeankpt hnnrrndtrs
      121 wkrdrekrdd qddvssvrse ggnirgsfrg rgrgrgrgrg rgrgnprlnf dysygyqehg
      181 ertdqpfqte lntsmmyyyd dgtgvqvypv eeallkeyik rqieyyfsve nlerdfflrg
      241 kmdeqgflpi sliagfqrvq alttnlnlil ealkdsteve ivdekmrkki epekwpipgp
      301 pprsvpptdf sqlidcpefv pgqafcshte sapnsprigs plspkknset silqamsrgl
      361 stslpdldse pwievkkrhq papvklresv svpegslnql csseepeqee ldflfdeeie
      421 qigrkntftd wsdndsdyei ddqdlnkili vtqtppyvkk hpggdrtgth msrakitsel
      481 akvindglyy yeqdlwmeed enkhtaikqe venfkklnli skeqfenltp elpfepnqev
      541 pvapsqsrqe ecwrhkmswr csrsashsqe riiilvtvkk mdwerkwqmy ltdelaqklf
      601 dvseitsaam vhslptavpe sprihptrtp ktprtprlqd pnktprfypv vkepkaidvk
      661 sprkrktrhs tnpplechvg wvmdsrdrgp gtssvstsna spsegaplag sygctphsfp
      721 kfqhpshell kengftqqvy hkyrrrclse rkrlgigqsq emntlfrfws fflrdhfnkk
      781 myeefrqlaw edakenyryg leclfrfysy glekkfrrei fqdfqeetkk dyesgqlygl
      841 ekfwaylkys qsktqsidpk lqeylcsfkr ledfrvdppi sdefgrkrhs stsgeesnrh
      901 rlppnsstkp pnaakptsts elqvpinspr rnispessdn sh
//
LOCUS       XP_016864546             481 aa            linear   PRI 20-MAR-2023
DEFINITION  casein kinase I isoform X1 [Homo sapiens].
ACCESSION   XP_016864546
VERSION     XP_016864546.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009057.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..481
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..481
                     /product="casein kinase I isoform X1"
                     /calculated_mol_wt=55114
     Region          42..354
                     /region_name="STKc_CK1_gamma"
                     /note="Catalytic domain of the Serine/Threonine protein
                     kinase, Casein Kinase 1 gamma; cd14126"
                     /db_xref="CDD:271028"
     Site            order(49..55,57,95,97,141..145,147,149,187,189,191..192,
                     194,210,213,236..239)
                     /site_type="active"
                     /db_xref="CDD:271028"
     Site            order(49..55,57,95,97,141..145,189,191..192,194,210)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271028"
     Site            order(53,147,149,187,189,191,213,236..239)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271028"
     Site            209..239
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271028"
     Region          354..443
                     /region_name="CK1gamma_C"
                     /note="Casein kinase 1 gamma C terminal; pfam12605"
                     /db_xref="CDD:432663"
     CDS             1..481
                     /gene="CSNK1G3"
                     /gene_synonym="CKI-gamma 3; CSNK1G3L"
                     /coded_by="XM_017009057.3:642..2087"
                     /db_xref="GeneID:1456"
                     /db_xref="HGNC:HGNC:2456"
                     /db_xref="MIM:604253"
ORIGIN      
        1 menkkkdkdk sddrmarpsg rsghntrgtg ssssgvlmvg pnfrvgkkig cgnfgelrld
       61 qrekpegcqg tsaslicdfr lcaqgknlyt neyvaiklep mksrapqlhl eyrfykqlgs
      121 gdgipqvyyf gpcgkynamv lellgpsled lfdlcdrtfs lktvlmiaiq lisrmeyvhs
      181 knliyrdvkp enfligrpgn ktqqvihiid fglakeyidp etkkhipyre hksltgtary
      241 msinthlgke qsrrddleal ghmfmyflrg slpwqglkad tlkeryqkig dtkratpiev
      301 lcenfpeema tylryvrrld ffekpdydyl rklftdlfdr kgymfdyeyd wigkqlptpv
      361 gavqqdpals snreahqhrd kmqqsknqsa dhraawdsqq anphhlrahl aadrhggsvq
      421 vvsstngeln tddptagrsn apitapteve vmdetncqkv lnmwcccffk rrkrktiqrh
      481 k
//
LOCUS       XP_016864675            2874 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein axonemal heavy chain 5 isoform X10 [Homo sapiens].
ACCESSION   XP_016864675
VERSION     XP_016864675.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009186.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2874
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..2874
                     /product="dynein axonemal heavy chain 5 isoform X10"
                     /calculated_mol_wt=327848
     Region          <10..2535
                     /region_name="DYN1"
                     /note="Dynein, heavy chain [Cytoskeleton]; COG5245"
                     /db_xref="CDD:227570"
     Region          192..519
                     /region_name="AAA_6"
                     /note="Hydrolytic ATP binding site of dynein motor region
                     D1; pfam12774"
                     /db_xref="CDD:432774"
     Region          2579..2871
                     /region_name="Dynein_C"
                     /note="Dynein heavy chain C-terminal domain; pfam18199"
                     /db_xref="CDD:436342"
     CDS             1..2874
                     /gene="DNAH5"
                     /gene_synonym="CILD3; DNAHC5; HL1; KTGNR; PCD"
                     /coded_by="XM_017009186.2:103..8727"
                     /db_xref="GeneID:1767"
                     /db_xref="HGNC:HGNC:2950"
                     /db_xref="MIM:603335"
ORIGIN      
        1 mpeipywiyd rilsissqeg etieldkpvm aegnvevwln slleesqssl hlvirqaaan
       61 iqetgfqlte flssfpaqvg llgiqmiwtr dseealrnak fdkkimqktn qaflellntl
      121 idvttrdlss tervkyetli tihvhqrdif ddlchmhiks pmdfewlkqc rfyfnedsdk
      181 mmihitdvaf iyqneflgct drlvitpltd rcyitlaqal gmsmggapag pagtgktett
      241 kdmgrclgky vvvfncsdqm dfrglgrifk glaqsgswgc fdefnridlp vlsvaaqqis
      301 iiltckkehk ksfiftdgdn vtmnpefglf ltmnpgyagr qelpenlkin frsvammvpd
      361 rqiiirvkla scgfidnvvl arkfftlykl ceeqlskqvh ydfglrnils vlrtlgaakr
      421 anpmdtesti vmrvlrdmnl sklidedepl flsliedlfp nilldkagyp eleaaisrqv
      481 eeaglinhpp wklkviqlfe tqrvrhgmmt lgpsgagktt cihtlmramt dcgkphremr
      541 mnpkaitapq mfgrldvatn dwtdgifstl wrktlrakkg ehiwiildgp vdaiwienln
      601 svlddnktlt langdripma pnckiifeph nidnaspatv srngmvfmss sildwspile
      661 gflkkrspqe aeilrqlyte sfpdlyrfci qnleykmevl eafvitqsin mlqgliplke
      721 qggevsqahl grlfvfallw sagaaleldg rrrlelwlrs rptgtlelpp pagpgdtafd
      781 yyvapdgtwt hwntrtqeyl ypsdttpeyg silvpnvdnv rtdfliqtia kqgkavllig
      841 eqgtaktvii kgfmskydpe chmikslnfs sattplmfqr tiesyvdkrm gttygppagk
      901 kmtvfiddvn mpiinewgdq vtneivrqlm eqngfynlek pgeftsivdi qflaamihpg
      961 ggrndipqrl krqfsifnct lpseasvdki fgvigvghyc tqrgfseevr dsvtklvplt
     1021 rrlwqmtkik mlptpakfhy vfnlrdlsrv wqgmlnttse vikepndllk lwkheckrvi
     1081 adrftvssdv twfdkalvsl veeefgeekk llvdcgidty fvdflrdape aagetseead
     1141 aetpkiyepi esfshlkerl nmflqlynes irgagmdmvf fadamvhlvk isrvirtpqg
     1201 nallvgvggs gkqsltrlas fiagyvsfqi tltrsyntsn lmedlkvlyr tagqqgkgit
     1261 fiftdneikd esfleymnnv lssgevsnlf ardeideins dlasvmkkef prclptnenl
     1321 hdyfmsrvrq nlhivlcfsp vgekfrnral kfpalisgct idwfsrwpkd alvavsehfl
     1381 tsydidcsle ikkevvqcmg sfqdgvaekc vdyfqrfrrs thvtpksyls fiqgykfiyg
     1441 ekhvevrtla nrmntglekl keasesvaal skeleakeke lqvandkadm vlkevtmkaq
     1501 aaekvkaevq kvkdraqaiv dsiskdkaia eekleaakpa leeaeaalqt irpsdiatvr
     1561 tlgrpphlim rimdcvlllf qrkvsavkid leksctmpsw qeslklmtag nflqnlqqfp
     1621 kdtineevie flspyfempd ynietakrvc gnvaglcswt kamasffsin kevlplkanl
     1681 vvqenrhlla mqdlqkaqae lddkqaeldv vqaeyeqamt ekqtlledae rcrhkmqtas
     1741 tlisglagek erwteqsqef aaqtkrlvgd vllataflsy sgpfnqefrd lllndwrkem
     1801 karkipfgkn lnlsemlida ptisewnlqg lpnddlsiqn giivtkasry pllidpqtqg
     1861 kiwiknkesr nelqitslnh kyfrnhleds lslgrpllie dvgeeldpal dnvlernfik
     1921 tgstfkvkvg dkevdvldgf rlyittklpn paytpeisar tsiidftvtm kgledqllgr
     1981 viltekqele kerthlmedv tankrrmkel ednllyrlts tqgslvedes livvlsntkr
     2041 taeevtqkle isaetevqin sareeyrpva trgsilyfli temrlvnemy qtslrqflgl
     2101 fdlslarsvk spitskrian iiehmtyevy kyaarglyee hkflftlllt lkidiqrnrv
     2161 kheefltlik ggasldlkac ppkpskwild itwlnlvels klrqfsdvld qisrnekmwk
     2221 iwfdkenpee eplpnaydks ldcfrrllli rswcpdrtia qarkyivdsm gekyaegvil
     2281 dlektweesd prtpliclls mgsdptdsii algkrlkiet ryvsmgqgqe vharkllqqt
     2341 manggwallq nchlgldfmd elmdiiiete lvhdafrlwm tteahkqfpi tllqmsikfa
     2401 ndppqglrag lkrtysgvsq dlldvssgsq wkpmlyavaf lhstvqerrk fgalgwnipy
     2461 efnqadfnat vqfiqnhldd mdvkkgvswt tirymigeiq yggrvtddyd krllntfakv
     2521 wfsenmfgpd fsfyqgynip kcstvdnylq yiqslpayds pevfglhpna dityqsklak
     2581 dvldtilgiq pkdtsgggde treavvarla ddmleklppd yvpfevkerl qkmgpfqpmn
     2641 iflrqeidrm qrvlslvrst ltelklaidg tiimsenlrd aldcmfdari pawwkkaswi
     2701 sstlgfwfte liernsqfts wvfngrphcf wmtgffnpqg fltamrqeit rankgwaldn
     2761 mvlcnevtkw mkddisappt egvyvyglyl egagwdkrnm klieskpkvl felmpviriy
     2821 aenntlrdpr fyscpiykkp vrtdlnyiaa vdlrtaqtpe hwvlrgvall cdvk
//
LOCUS       XP_016864717            2861 aa            linear   PRI 20-MAR-2023
DEFINITION  fibrillin-2 isoform X1 [Homo sapiens].
ACCESSION   XP_016864717
VERSION     XP_016864717.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009228.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2861
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..2861
                     /product="fibrillin-2 isoform X1"
                     /calculated_mol_wt=309172
     Region          76..112
                     /region_name="Fibrillin_U_N"
                     /note="Fibrillin 1 unique N-terminal domain; pfam18193"
                     /db_xref="CDD:436338"
     Region          224..>257
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          276..306
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Region          318..359
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          484..514
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(484,487,500)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          524..565
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(524,527,542)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          566..598
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(566,569,583)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          587..610
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          607..647
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(607,610,624)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          662..705
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          739..762
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          759..794
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(759,762,777)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          855..>884
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          904..934
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Region          959..1001
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          1064..1098
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          1107..1139
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1107,1110,1125)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1149..1181
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1149,1152,1167)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1172..1194
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          1195..1230
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Site            order(1316,1319,1335)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1320..1355
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Site            order(1357,1360,1376)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1361..1396
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          1440..1475
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1440,1443,1457)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1481..1512
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1481,1484,1498)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1541..1582
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          1599..1632
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(1599,1602,1617)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1621..1644
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          1698..1740
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          1757..1789
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1757,1760,1775)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1799..>1831
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1799,1802,1818)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          <1836..1878
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Region          1883..1917
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(1883,1886,1899)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          1922..1964
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          1965..1997
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          2005..2045
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(2005,2008,2023)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          2060..2104
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          2120..2161
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(2120,2123,2138)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          2162..2201
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(2162,2165,2179)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          2243..2275
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cl21504"
                     /db_xref="CDD:451279"
     Region          <2354..2386
                     /region_name="TB"
                     /note="TB domain; pfam00683"
                     /db_xref="CDD:425818"
     Region          2398..2439
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          2444..2479
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          2481..2510
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Region          2520..2562
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Region          2563..>2592
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(2563,2566,2579)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     CDS             1..2861
                     /gene="FBN2"
                     /gene_synonym="CCA; DA9; EOMD"
                     /coded_by="XM_017009228.3:643..9228"
                     /db_xref="GeneID:2201"
                     /db_xref="HGNC:HGNC:3604"
                     /db_xref="MIM:612570"
ORIGIN      
        1 mgrrrrlclq lyflwlgcvv lwaqgtagqp qppppkpprp qpppqqvrsa tagseggfla
       61 peyreegaav asrvrrrgqq dvlrgpnvcg srfhsyccpg wktlpggnqc ivpicrnscg
      121 dgfcsrpnmc tcssgqisst cgsksiqqcs vrcmnggtca ddhcqcqkgy igtycgqpvc
      181 engcqnggrc igpnrcacvy gftgpqcerd yrtgpcftqv nnqmcqgqlt givctktlcc
      241 atigrawghp cemcpaqpqp crrgfipnir tgacqdvdec qaipgicqgg ncintvgsfe
      301 crcpaghkqs ettqkcedid ecsiipgice tgecsntvgs yfcvcprgyv tstdgsrcie
      361 eyrrlcmdgl pmggipgsag srpggtggng fapsgngngy gpggtgfipi pggngfspgv
      421 ggagvgaggq gpiitgltil nqtidickhh anlclngrci ptvssyrcec nmgykqdang
      481 dcidvdects npctngdcvn tpgsyyckch agfqrtptkq acidideciq ngvlckngrc
      541 vntdgsfqci cnagfelttd gkncvdhdec tttnmclngm cinedgsfkc ickpgfvlap
      601 ngryctdvde cqtpgicmng hcinsegsfr cdcppglavg mdgrvcvdth mrstcyggik
      661 kgvcvrpfpg avtkseccca npdygfgepc qpcpaknsae fhglcssgvg itvdgrdine
      721 caldpdican gicenlrgsy rcncnsgyep dasgrncidi declvnrllc dnglcrntpg
      781 sysctcppgy vfrtetetce dinecesnpc vngacrnnlg sfncecspgs klsstglici
      841 dslkgtcwln iqdsrcevni ngatlksecc atlgaawgsp cerceldtac prglarikgv
      901 tcedvnecev fpgvcpngrc vnskgsfhce cpegltldgt grvcldirme qcylkwdede
      961 cihpvpgkfr mdacccavga awgteceecp kpgtkeyetl cprgagfanr gdvltgrpfy
     1021 kdineckafp gmctygkcrn tigsfkcrcn sgfaldmeer nctdidecri spdlcgsgic
     1081 vntpgsfece cfegyesgfm mmkncmdide cernpllcrg gtcvntegsf qcdcplghel
     1141 spsredcvdi necslsdnlc rngkcvnmig tyqcscnpgy qatpdrqgct didecmimng
     1201 gcdtqctnse gsyecscseg yalmpdgrsc adidecennp dicdggqctn ipgeyrclcy
     1261 dgfmasmdmk tcidvnecdl nsnicmfgec entkgsfich cqlgysvkkg ttgctdvdec
     1321 eigahncdmh asclnipgsf kcscregwig ngikcidlde csngthqcsi naqcvntpgs
     1381 yrcacsegft gdgftcsdvd ecaeninlce ngqclnvpga yrcecemgft pasdsrscqd
     1441 idecsfqnic vfgtcnnlpg mfhcicddgy eldrtggnct didecadpin cvnglcvntp
     1501 gryecncppd fqlnptgvgc vdnrvgncyl kfgprgdgsl scnteigvgv srsscccslg
     1561 kawgnpcetc ppvnsteyyt lcpggegfrp npitiiledi decqelpglc qggncintfg
     1621 sfqcecpqgy ylsedtrice didecfahpg vcgpgtcynt lgnytcicpp eymqvngghn
     1681 cmdmrksfcy rsyngttcen elpfnvtkrm ccctynvgka wnkpcepcpt pgtadfktic
     1741 gnipgftfdi htgkavdide ckeipgican gvcinqigsf rcecptgfsy ndlllvcedi
     1801 decsngdnlc qrnadcinsp gsyrcecaag fklspngacv drnecleipn vcshglcvdl
     1861 qgsyqcichn gfkasqdqtm cmdvdecerh pcgngtcknt vgsynclcyp gfelthnndc
     1921 ldidecssff gqvcrngrcf neigsfkclc negyeltpdg kncidtnecv alpgscspgt
     1981 cqnlegsfrc icppgyevks encidinecd edpniclfgs ctntpggfqc lcppgfvlsd
     2041 ngrrcfdtrq sfcftnfeng kcsvpkafnt tkakcccskm pgegwgdpce lcpkddevaf
     2101 qdlcpyghgt vpslhdtred vneclespgi csngqcintd gsfrcecpmg ynldytgvrc
     2161 vdtdecsign pcgngtctnv igsfecncne gfepgpmmnc edinecaqnp llcafrcmnt
     2221 fgsyectcpi gyalredqkm ckdldecaeg lhdcesrgmm cknligtfmc icppgmarrp
     2281 dgegcvdene crtkpgicen grcvniigsy rcecnegfqs sssgtecldn rqglcfaevl
     2341 qticqmasss rnlvtksecc cdggrgwghq celcplpgta qykkicphgp gyttdgrdid
     2401 eckvmpnlct ngqcintmgs frcfckvgyt tdisgtscid ldecsqspkp cnyicknteg
     2461 syqcscprgy vlqedgktck dldecqtkqh ncqflcvntl ggftckcppg ftqhhtacid
     2521 nnecgsqpsl cgakgicqnt pgsfscecqr gfsldatgln cedvdecdgn hrcqhgcqni
     2581 lggyrcgcpq gyiqhyqwnq cvdenecsnp nacgsascyn tlgsykcacp sgfsfdqfss
     2641 achdvnecss sknpcnygcs nteggylcgc ppgyyrvgqg hcvsgmgfnk gqylsldtev
     2701 deenalspea cyeckingys kkdsrqkrsi hepdptaveq islesvdmds pvnmkfnlsh
     2761 lgskehilel rpaiqplnnh iryvisqgnd dsvfrihqrn glsylhtakk klmpgtytle
     2821 itsiplykkk elkkleesne ddyllgelge alrmrlqiql y
//
LOCUS       XP_011541905             183 aa            linear   PRI 20-MAR-2023
DEFINITION  survival motor neuron protein isoform X2 [Homo sapiens].
ACCESSION   XP_011541905
VERSION     XP_011541905.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011543603.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..183
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..183
                     /product="survival motor neuron protein isoform X2"
                     /calculated_mol_wt=19536
     Region          26..179
                     /region_name="SMN"
                     /note="Survival motor neuron protein (SMN); pfam06003"
                     /db_xref="CDD:428716"
     CDS             1..183
                     /gene="SMN2"
                     /gene_synonym="BCD541; C-BCD541; GEMIN1; SMNC; TDRD16B"
                     /coded_by="XM_011543603.4:164..715"
                     /db_xref="GeneID:6607"
                     /db_xref="HGNC:HGNC:11118"
                     /db_xref="MIM:601627"
ORIGIN      
        1 mamssggsgg gvpeqedsvl frrgtgqsdd sdiwddtali kaydkavasf khalkngdic
       61 etsgkpkttp krkpakknks qkkntaaslq qnenesqvst desensrspg nksdnikpks
      121 apwnsflppp ppmpgprlgp gkiipppppi cpdslddada lgsmliswym sgyhtgyyme
      181 mla
//
LOCUS       XP_047274397            2442 aa            linear   PRI 20-MAR-2023
DEFINITION  protein dopey-1 isoform X10 [Homo sapiens].
ACCESSION   XP_047274397
VERSION     XP_047274397.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418441.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2442
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..2442
                     /product="protein dopey-1 isoform X10"
                     /calculated_mol_wt=274728
     Region          11..261
                     /region_name="Dopey_N"
                     /note="Dopey, N-terminal; pfam04118"
                     /db_xref="CDD:427723"
     Region          <2048..2284
                     /region_name="Dopey_N"
                     /note="Dopey, N-terminal; cl04407"
                     /db_xref="CDD:446380"
     CDS             1..2442
                     /gene="DOP1A"
                     /gene_synonym="dJ202D23.2; DOP1; DOPEY1; KIAA1117"
                     /coded_by="XM_047418441.1:249..7577"
                     /db_xref="GeneID:23033"
                     /db_xref="HGNC:HGNC:21194"
                     /db_xref="MIM:616823"
ORIGIN      
        1 mnteelells dskyrnyvaa idkalknfey ssewadlisa lgklnkvlqn nakyqvvpkk
       61 ltigkrlaqc lhpalpggvh rkaletyeii fkiigpkrla kdlflyssgl fpllanaams
      121 vkptllslye iyylplgktl kpglqglltg ilpgleegse yyertnmlle kvaaavdqsa
      181 fysalwgsll tspavrlpgi tyvlahlnrk lsmedqlyii gsdielmatr pdmirilsaa
      241 lhvvlrrdms lnrrlyawll gfdnngaiig prstrhsnpe ehatyyfttf skellvqamv
      301 gilqvngfge entlmqdlkp frilislldk pelgpviled vlievfrtly sqckaeldlq
      361 teppfskdha qlssklrenk ktaeliktan llfnsfepyy mwdyvarwfe eccrrtlhvr
      421 lqigpgdsnd sselqltnfc llvdflldiv sletyieiqt ehlpqlllrm isaltshlqt
      481 lhlseltdsl rlcskilskv qppllsastg gvlqfpsgqn nsvkewedkk vssvshenpt
      541 evfedgenpp ssrssesgft efiqyqadrt ddidrelseg qgaaaipigs tssetetast
      601 vgseetiiqt psvvtqgtat rsrktaqkta mqccleyvqq fltrlinlyi iqnnsfsqsl
      661 atehqgdlgr eqgetskwdr nsqgdvkekn iskqktskey lsaflaacql flecssfpvy
      721 iaegnhtsel rsekletdce hvqppqwlqt lmnacsqasd fsvqsvaisl vmdlvgltqs
      781 vamvtgenin svepaqplsp nqgrvavvir ppltqgnlry iaekteffkh valtlwdqlg
      841 dgtpqhhqks velfyqlhnl vpsssicedv isqqlthkdk kirmeahakf avlwhltrdl
      901 hinksssfvr sfdrslfiml dslnsldgst ssvgqawlnq vlqrhdiarv lepllllllh
      961 pktqrvsvqr vqaerywnks pcypgeesdk hfmqnfacsn vsqvqlitsk gngekpltmd
     1021 eienfsltvn plsdrlslls tssetipmvv sdfdlpdqqi eilqssdsgc sqssagdnls
     1081 yevdpetvna qedsqmpkes spdddvqqvv fdlickvvsg levesasvts qleieamppk
     1141 csdidpdeet ikieddsiqq sqnallsnes sqflsvsaeg ghecvangis rnssspcisg
     1201 tthtlhdssv asietksrqr shssiqfsfk eklsekvsek etivkesgkq pgakpkvkla
     1261 rkkdddkkks sneklkqtsv ffsdgldlen wyscgegdis eiesdmgspg srkspnfnih
     1321 plyqhvllyl qlydssrtly afsaikailk tnpiafvnai sttsvnnayt pqlsllqnll
     1381 arhrisvmgk dfyshipvds nhnfrssmyi eilislclyy mrshypthvk vtaqdlignr
     1441 nmqmmsieil tllftelakv iessakgfps fisdmlskck vqkvilhcll ssifsaqkwh
     1501 sekmagknlv aveegfseds linfsedefd ngstlqsqll kvlqrlivle hrvmtipeen
     1561 etgfdfvvsd lehisphqpm tslqylhaqp itcqgmflca viralhqhca ckmhpqwigl
     1621 itstlpymgk vlqrvvvsvt lqlcrnldnl iqqykyetgl sdsrplwmas iippdmiltl
     1681 legitaiihy clldpttqyh qllvsvdqkh lfearsgils ilhmimssvt llwsilhqad
     1741 ssekmtiaas aslttinlga tknlrqqile llgpismnhg vhfmaaiafv wnerrqnktt
     1801 trtkvipaas eeqlllvelv rsisvmraet viqtvkevlk qppaiakdkk hlslevcmlq
     1861 ffyayiqrip vpnlvdswas llillkdsiq lslpapgqfl ilgvlnefim knpslenkkd
     1921 qrdlqdvthk ivdaigaiag ssleqttwlr rnlevkpspk imvdgtnles dvedmlspam
     1981 etanitpsvy svhaltllse vlahlldmvf ysdekervip llvnimhyvv pylrnhsahn
     2041 apsyracvql lsslsgyqyt rrawkkeafd lfmdpsffqm dascvnhwra imdnlmthdk
     2101 ttfrdlmtrv avaqssslnl fanrdveleq ramllkrlaf aifsseidqy qkylpdiqer
     2161 lveslrlpqv ptlhsqvflf frvlllrmsp qhltslwptm itelvqvfll meqeltaded
     2221 isrtsgpsva glettytggn gfstsynsqr wlnlylsack fldlalalps enlpqfqmyr
     2281 wafipeasdd sglevrrqgi hqrefkpyvv rlakllrkra kdkeedfktv ileglemakh
     2341 qknpeednsg rtlgwepghl lltictvrsm eqllpffnvl sqvfnskvts rcgghsgspi
     2401 lysnafpnkd mklenhkpcs skarqkieem vekdflegmi kt
//
LOCUS       XP_016866109             298 aa            linear   PRI 20-MAR-2023
DEFINITION  NAD-dependent protein deacylase sirtuin-5, mitochondrial isoform X3
            [Homo sapiens].
ACCESSION   XP_016866109
VERSION     XP_016866109.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017010620.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..298
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..298
                     /product="NAD-dependent protein deacylase sirtuin-5,
                     mitochondrial isoform X3"
                     /calculated_mol_wt=32516
     Region          51..291
                     /region_name="SIRT5_Af1_CobB"
                     /note="Eukaryotic, archaeal and prokaryotic group (class3)
                     which includes human sirtuin SIRT5, Archaeoglobus fulgidus
                     Sir2-Af1, and E. coli CobB; and are members of the SIR2
                     family of proteins, silent information regulator 2 (Sir2)
                     enzymes which catalyze NAD...; cd01412"
                     /db_xref="CDD:238703"
     Site            order(60,62..63,70..71,118,140..141,143,158,249,254,
                     276..277,291)
                     /site_type="other"
                     /note="NAD+ binding site [chemical binding]"
                     /db_xref="CDD:238703"
     Site            order(142,158,221,223..227,253..255)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:238703"
     Site            order(166,169,207,212)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:238703"
     CDS             1..298
                     /gene="SIRT5"
                     /gene_synonym="SIR2L5"
                     /coded_by="XM_017010620.3:291..1187"
                     /db_xref="GeneID:23408"
                     /db_xref="HGNC:HGNC:14933"
                     /db_xref="MIM:604483"
ORIGIN      
        1 mrplqivpsr lisqlycglk ppastrnqic lkmarpsssm adfrkffaka khiviisgag
       61 vsaesgvptf rgaggywrkw qaqdlatpla fahnpsrvwe fyhyrrevmg skepnaghra
      121 iaecetrlgk qgrrvvvitq nidelhrkag tknlleihgs lfktrctscg vvaenykspi
      181 cpalsgkgap epgtqdasip veklprceea gcggllrphv vwfgenldpa ileevdrela
      241 hcdlclvvgt ssvvypaamf apqvaargvp vaefntettp atnrfscfyg rtksftvd
//
LOCUS       XP_047278113             112 aa            linear   PRI 20-MAR-2023
DEFINITION  elongin-C isoform X1 [Homo sapiens].
ACCESSION   XP_047278113
VERSION     XP_047278113.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422157.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..112
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..112
                     /product="elongin-C isoform X1"
                     /calculated_mol_wt=12342
     Region          18..112
                     /region_name="BTB_POZ_EloC"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac) /POZ
                     (poxvirus and zinc finger) domain found in Elongin-C
                     (EloC) and similar proteins; cd18321"
                     /db_xref="CDD:349630"
     Site            order(18,25..32,66..68,71,74..75,78..79,82..83,91..93,
                     97..99,101..102)
                     /site_type="other"
                     /note="elongin B interface [polypeptide binding]"
                     /db_xref="CDD:349630"
     Site            order(44..45,47,49..52,59..61,63..64,105,108..109)
                     /site_type="other"
                     /note="cullin binding site [polypeptide binding]"
                     /db_xref="CDD:349630"
     Site            order(76,80,83,86,89..90,92..93,95,97,100..101,103..105,
                     107..108,112)
                     /site_type="other"
                     /note="target protein binding site [polypeptide binding]"
                     /db_xref="CDD:349630"
     CDS             1..112
                     /gene="ELOC"
                     /gene_synonym="SIII; TCEB1"
                     /coded_by="XM_047422157.1:280..618"
                     /db_xref="GeneID:6921"
                     /db_xref="HGNC:HGNC:11617"
                     /db_xref="MIM:600788"
ORIGIN      
        1 mdgeektygg cegpdamyvk lissdghefi vkrehaltsg tikamlsgpg qfaenetnev
       61 nfreipshvl skvcmyftyk vrytnsstei pefpiapeia lellmaanfl dc
//
LOCUS       XP_006717274            2567 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 462 isoform X1 [Homo sapiens].
ACCESSION   XP_006717274
VERSION     XP_006717274.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006717211.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2567
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..2567
                     /product="zinc finger protein 462 isoform X1"
                     /calculated_mol_wt=291116
     Region          2054..2074
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2086..2110
                     /region_name="zf-H2C2_5"
                     /note="C2H2-type zinc-finger domain; pfam13909"
                     /db_xref="CDD:404746"
     Region          2088..2108
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(2093,2095,2097,2099..2100,2103..2104,2107,2122,
                     2126..2127,2132..2133,2137,2151,2153,2155,2157..2158,
                     2161..2162,2166)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          2117..2138
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2146..2167
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2317..2337
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2363..2383
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(2368,2370,2372..2373,2378..2379,2382,2399,
                     2402..2403,2406..2407,2410,2482,2484,2486,2488..2489,
                     2492..2493,2496)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          2391..2412
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2477..2497
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..2567
                     /gene="ZNF462"
                     /gene_synonym="WSKA; Zfp462; ZFPIP"
                     /coded_by="XM_006717211.5:351..8054"
                     /db_xref="GeneID:58499"
                     /db_xref="HGNC:HGNC:21684"
                     /db_xref="MIM:617371"
ORIGIN      
        1 mevlqcdgcd frapsyedlk ahiqdvhtaf lqptdvaedn vnelrcgsvn asnqtevefs
       61 sikdefaiae dlsgqnatsl gtggyyghsp gyygqhiaan pkptnkffqc kfcvryfrsk
      121 nlliehtrkv hgaqaegsss gppvpgslny nimmhegfgk vfscqfctyk sprrariikh
      181 qkmyhknnlk ettapppapa pmpdpvvppv slqdpckelp aevversile smvkpltksr
      241 gnfccewcsy qtprrerwcd hmmkkhrsmv kilsslrqqq egtnlpdvpn ksapsptsns
      301 tyltmnaasr eipnttvsnf rgsmgnsimr pnssaskfsp msypqmkpks phnsglvnlt
      361 ersrygmtdm tnssadletn smlndsssde elneidseng lsamdhqtsg lsaeqlmgsd
      421 gnklletkgi pfrrfmnrfq cpfcpfltmh rrsisrhien ihlsgktavy kcdecpftck
      481 sslklgahkq chtgttsdwd avnsqsesis sslnegvvsy esssingrks gvmldplqqq
      541 qppqpppppp ppppsqpqpl qqpqppqlqp phqvppqpqt qppptqqpqp ptqaaplhpy
      601 kctmcnystt tlkglrvhqq hkhsfcdnlp kfegqpsslp lenetdshps ssntvkksqt
      661 silglssknn fvakasrkla ndfpldlspv kkrtrideia snlqskinqt kqqedavinv
      721 eddeeeeedn eveieveldr eeeptepiie vptsfsaqqi wvrdtsepqk epnfrnithd
      781 ynatngaeie ltlsedeedy ygsstnlkdh qvsntallnt qtpiygtehn sentdfgdsg
      841 rlyyckhcdf nnksarsvst hyqrmhpyik fsfryildpn dhsavyrcle cyidytnfed
      901 lqqhygehhp eamnvlnfdh sdliyrcrfc sytspnvrsl mphyqrmhpt vkinnamifs
      961 syvveqqegl ntesqtlrei lnsapknmat stpvargggl patfnkntpk tftpecenqk
     1021 dplvntvvvy dcdvcsfasp nmhsvlvhyq kkhpeekasy friqktmrmv svdrgsalsq
     1081 lsfevgapms pkmsnmgspp ppqppppdls telyyckhcs ysnrsvvgvl vhyqkrhpei
     1141 kvtakyirqa pptaammrgv egpqgsprpp apiqqlnrss serdgppven emffcqhcdy
     1201 gnrtvkgvli hyqkkhrdfk anadvirqht atirslcdrn qkkpascvlv spsnlerdkt
     1261 klralkcrqc sytspyfyal rkhikkdhpa lkatvtsimr wafldgliea gyhcewciys
     1321 htepnglllh yqrrhpehyv dytymatklw agpdpsppsl tmpaeaktyr crdcvfeavs
     1381 iwditnhyqa fhpwamngde svlldiikek davekpilss eelagpvnce nsiptpfpeq
     1441 eaecpedarl spekslqlas anpaisstpy qctvcqseyn nlhgllthyg kkhpgmkvka
     1501 adfaqdidin pgavykcrhc pyintrihgv lthyqkrhps ikvtaedfvh dveqsadisq
     1561 ndveetsrif kqgygayrck lcpythgtle klkihyekyh nqpefdvfsq sppklpvple
     1621 pemttevsps qvsiteeevg eepvstshfs tshlvshtvf rcqlckyfcs trkgiarhyr
     1681 ikhnnvraqp egknnlfkca lcaytnpirk glaahyqkrh didayythcl aasrtisdkp
     1741 nkviipsppk ddspqlseel rravekkkcs lcsfqsfskk givshymkrh pgvfpkkqha
     1801 sklggyftav yadehekptl meeeergnfe kaevegeaqe iewlpfrcik cfklsfstae
     1861 llcmhytdhh srdlkrdfii lgngprlqns tyqckhcdsk lqstaeltsh lnihneefqk
     1921 rakrqerrkq llskqkyadg afadfkqerp fghleevpki kerkvvgykc kfcvevhptl
     1981 raicnhlrkh vqygnvpavs aavkqeaddp ahlfldglea akdasgalvg rvdgehclld
     2041 gmledetrpg gyhcsqcdrv lmsmqglrsh ershlalamf tredkyscqy csfvsafrhn
     2101 ldrhmqthhg hhkpfrcklc sfkssynsrl kthilkahag ehaykcswcs fstmtisqlk
     2161 ehslkvhgka ltlprprivs llsshshhss qkatpaeeve dsndssysep pdvqqqlnhy
     2221 qsaalarnns rvspvplsga aagteqktea vlhcefcefs sgyiqsirrh yrdkhggkkl
     2281 fkckdcsfyt gfksaftmhv eaghsavpee gpkdlrcplc lyhtkykrnm idhivlhree
     2341 rvvpievcrs klskylqgvv frcdkctftc ssdeslqqhi ekhnelkpyk cqlcyyetkh
     2401 teeldshlrd ehkvsrnfel vgrvnldqle qmkekmesss sddedkeeem nskaedrelm
     2461 rfsdhgaaln tekrfpcefc grafsqgsew erhvlrhgma lndtkqvsre eihpkeimen
     2521 svkmpsieek eddeaigidf slknetvaic vvtadkslle naeakke
//
LOCUS       XP_047279874             500 aa            linear   PRI 20-MAR-2023
DEFINITION  atos homolog protein B isoform X3 [Homo sapiens].
ACCESSION   XP_047279874
VERSION     XP_047279874.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423918.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..500
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..500
                     /product="atos homolog protein B isoform X3"
                     /calculated_mol_wt=52936
     Region          <7..307
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          310..367
                     /region_name="DUF4210"
                     /note="Domain of unknown function (DUF4210); pfam13915"
                     /db_xref="CDD:404751"
     Region          442..498
                     /region_name="Chromosome_seg"
                     /note="Chromosome segregation during meiosis; pfam13889"
                     /db_xref="CDD:433557"
     CDS             1..500
                     /gene="ATOSB"
                     /gene_synonym="FAM214B; KIAA1539"
                     /coded_by="XM_047423918.1:283..1785"
                     /db_xref="GeneID:80256"
                     /db_xref="HGNC:HGNC:25666"
                     /db_xref="MIM:620169"
ORIGIN      
        1 mrhvqaepsp ssepeagpsq ppvrqgalqg gllmgyspag gatspgvyqv sifsppagts
       61 ephralkrqa pstegprelk rgpglgareg lppeepstvg llgpegpglg lgvasqhfsh
      121 rglcvveqrs svtsswtsga wsppcppsna scntlhtrdw aspdpggqgs lgespgpapp
      181 gqlhtldtdl hslaqiggpc ptkrrllpag eapdvsseee gpaprrrrgs lghptaanss
      241 dakatpfwsh llpgpkepvl dptdcgpmgr rlkgarrlkl splrslrkgp gllsppsasp
      301 vptpavsrtl lgnfeesllr grfapsghie gftaeigasg sycpqhvtlp vtvtffdvse
      361 qnapapflgi vdlnplgrkg ysvpkvgtvq vtlfnpnqtv vkmflvtfdf sdmpaahmtf
      421 lrhrlflvpv geegnanpth rllcyllhlr frssrsgrls lhgdirllfs rrsleldtgl
      481 pyelqavtea phnprysplp
//
LOCUS       XP_047280060             449 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine deaminase isoform X9 [Homo sapiens].
ACCESSION   XP_047280060
VERSION     XP_047280060.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424104.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..449
                     /product="guanine deaminase isoform X9"
                     /calculated_mol_wt=49983
     Region          9..422
                     /region_name="GDEase"
                     /note="Guanine deaminase (GDEase). Guanine deaminase is an
                     aminohydrolase responsible for the conversion of guanine
                     to xanthine and ammonia, the first step to utilize guanine
                     as a nitrogen source. This reaction also removes the
                     guanine base from the pool and...; cd01303"
                     /db_xref="CDD:238628"
     Site            order(22,24,218,221,257,308)
                     /site_type="active"
                     /db_xref="CDD:238628"
     CDS             1..449
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /coded_by="XM_047424104.1:366..1715"
                     /db_xref="GeneID:9615"
                     /db_xref="HGNC:HGNC:4212"
                     /db_xref="MIM:139260"
ORIGIN      
        1 mvetvggwrg geffmpglvd thihasqysf agssidlpll ewltkytfpa ehrfqnidfa
       61 eevytrvvtl ellmsvlvkk tlffhkggnm eckqpsqghv annrqnrrtl kngtttacyf
      121 atihtdssll laditdkfgq rafvgkvcmd lndtfpeyke tteesikete rfvsemlqkn
      181 ysrvkpivtp rfslscsetl mgelgniakt rdlhiqshis enrdeveavk nlypsyknyt
      241 svydknnllt nktvmahgcy lsaeelnvfh ergasiahcp nsnlslssgf lnvlevlkhe
      301 vkiglgtdva ggysysmlda irravmvsni llinkvneks ltlkevfrla tlggsqalgl
      361 dgeignfevg kefdailinp kasdspidlf ygdffgdise aviqkflylg ddrnieevyv
      421 ggkqvvpfss svketihlpa ssphpppfp
//
LOCUS       XP_005262260             574 aa            linear   PRI 20-MAR-2023
DEFINITION  protein POF1B isoform X1 [Homo sapiens].
ACCESSION   XP_005262260
VERSION     XP_005262260.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005262203.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..574
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..574
                     /product="protein POF1B isoform X1"
                     /calculated_mol_wt=66215
     Region          <260..516
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     CDS             1..574
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /coded_by="XM_005262203.5:69..1793"
                     /db_xref="GeneID:79983"
                     /db_xref="HGNC:HGNC:13711"
                     /db_xref="MIM:300603"
ORIGIN      
        1 msssywsets ssscgtqqlp evlqcqpqhy hcyhqssqaq qppeknvvye rvrtysgpmn
       61 kvvqaldpfn srevlsplkt tssyqnlvws dhsqelhspt lkistcapst lhitqnteqe
      121 lhsptvkltt ypqttirkyv vqnpeqepls qflrgshffp gnnviyekti rkveklntdq
      181 pqvihsahwq qpdssqqiqa itgnnpisth ignelchsgs sqiceqviiq ddgpekldpr
      241 yfgelladls rkntdlyhcl lehlqriggs kqdfestdes edieslipkg lseftkqqir
      301 yilqmrgmsd kslrlvlstf snireelghl qndmtslend kmrlekdlsf kdtqlkeyee
      361 llasvrannh qqqqglqdss skcqaleenn lslrhtlsdm eyrlkeleyc krnleqenqn
      421 lrmqvsetct gpmlqakmde ignhytemvk nlrmekdrei crlrsqlnqy hkdvskregs
      481 csdfqfklhe ltslleekds likrqseels klrqeiyssh nqpstggrtt ittkkyrtqy
      541 pilgllyddy eyippgsetq tiviektedk ytcp
//
LOCUS       XP_047298502             414 aa            linear   PRI 20-MAR-2023
DEFINITION  putative GTP-binding protein 6 isoform X3 [Homo sapiens].
ACCESSION   XP_047298502
VERSION     XP_047298502.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442546.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..414
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..414
                     /product="putative GTP-binding protein 6 isoform X3"
                     /calculated_mol_wt=45358
     Region          32..109
                     /region_name="GTP-bdg_M"
                     /note="GTP-binding GTPase Middle Region; pfam16360"
                     /db_xref="CDD:435298"
     Region          74..353
                     /region_name="HflX"
                     /note="HflX GTPase family; cd01878"
                     /db_xref="CDD:206666"
     Site            order(121..124,134,204..206)
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206666"
     Site            order(124,204..207,316..317,319,335..337)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206666"
     Site            221..234
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206666"
     Site            231
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206666"
     Site            247..250
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206666"
     Site            250..273
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206666"
     Site            316..319
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206666"
     Site            335..337
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206666"
     CDS             1..414
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /coded_by="XM_047442546.1:180..1424"
                     /db_xref="GeneID:8225"
                     /db_xref="HGNC:HGNC:30189"
                     /db_xref="MIM:300124"
ORIGIN      
        1 maaptkkele aawgvevfdr ftvvlhifrc nartkearlq valaemplhr snlkrdvahl
       61 yrgvgsryim gsgesfmqlq qrllrekeak irkaldrlrk krhllrrqrt rrefpvisvv
      121 gytncgehap rggafrglrv tgedspgggq gvpvvsvvpy dscgehvprr ggshgrrvgy
      181 tsccessprr rvscglcvgy ssqgkttlik altgdaaiqp rdqlfatldv tahagtlpsr
      241 mtvlyvdtig flsqlphgli esfsatledv ahsdlilhvr dvshpeaelq kcsvlstlrg
      301 lqlpapllds mvevhnkvdl vpgysptepn vvpvsalrgh glqelkaeld aavlkatgrq
      361 iltlrvrlag aqlswlykea tvqevdvipe dgaadvrvii snsaygkfrk lfpg
//
LOCUS       XP_054184527             870 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 27 isoform X15 [Homo sapiens].
ACCESSION   XP_054184527
VERSION     XP_054184527.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328552.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167251.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..870
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31-21.32"
     Protein         1..870
                     /product="rho GTPase-activating protein 27 isoform X15"
                     /calculated_mol_wt=95095
     CDS             1..870
                     /gene="ARHGAP27"
                     /gene_synonym="CAMGAP1; PP905; SH3D20; SH3P20"
                     /coded_by="XM_054328552.1:404..3016"
                     /db_xref="GeneID:201176"
                     /db_xref="HGNC:HGNC:31813"
                     /db_xref="MIM:610591"
ORIGIN      
        1 maadvvgdvy vlvehpfeyt gkdgrrvair pneryrllrr stehwwhvrr epggrpfylp
       61 aqyvrelpal gnpaaaappg phpspaapep laydyrfvsa aatagpdgap eesggrtssl
      121 cgpaqrgaat qrsslapglp aclylrpaap vrpaqslndl acaavsppag llgssgsfka
      181 csvagswvcp rplarsdsen vyeviqdlhv ppreesaeqv ddppepvyan ierqpratsp
      241 gaaaaplpsp vwethtdagt grpyyynpdt gvttwespfe aaegaaspat spasvdshvs
      301 letewgqywd eesrrvffyn pltgetawed eaenepeeel emqpglspgs pgdprpptpe
      361 tdypesltsy peedyspvgs fgepgptspl ttppgwschv sqdkqmlytn hftqeqwvrl
      421 edphgkpyfy npedssvrwe lpqvpvpapr sihkssqdgd tpaqasppee kvpaeldevg
      481 sweevspata avrtktldka gvlhrtktad kgkrlrkkhw saswtvlegg vltffkdskt
      541 saagglrqps kfstpeytve lrgatlswap kdkssrknvl elrsrdgsey liqhdseaii
      601 stwhkaiaqg iqelgsmqlr evnvlrltgg gpaagsrprl seamgiqsae lppeesessr
      661 vdfgsserlg swqekeedar pnaaapalgp vglesdlskv rhklrkflqr rptlqslrek
      721 gyikdqvfgc alaalcerer srvprfvqqc iraveargld idglyrisgn latiqklryk
      781 vdhderldld dgrwedvhvi tgalklffre lpeplfpfsh frqfiaaise hlgqscrtrp
      841 gaaavcvtwc arcplptttl cgcssstsag
//
LOCUS       XP_054185793             327 aa            linear   PRI 20-MAR-2023
DEFINITION  HLA class I histocompatibility antigen, alpha chain F isoform X7
            [Homo sapiens].
ACCESSION   XP_054185793
VERSION     XP_054185793.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329818.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_113891.3) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..327
                     /product="HLA class I histocompatibility antigen, alpha
                     chain F isoform X7"
                     /calculated_mol_wt=37177
     CDS             1..327
                     /gene="HLA-F"
                     /gene_synonym="CDA12; HLA-5.4; HLA-CDA12; HLAF"
                     /coded_by="XM_054329818.1:92..1075"
                     /db_xref="GeneID:3134"
                     /db_xref="HGNC:HGNC:4963"
                     /db_xref="MIM:143110"
ORIGIN      
        1 mngcdmgpdg rllrgyhqha ydgkdyisln edlrswtaad tvaqitqrfy eaeeyaeefr
       61 tylegeclel lrrylengke tlqradppka hvahhpisdh eatlrcwalg fypaeitltw
      121 qrdgeeqtqd telvetrpag dgtfqkwaav vvpsgeeqry tchvqheglp qplilrweqs
      181 pqptipivgi vaglvvlgav vtgavvaavm wrkkssdrnr gsysqaaays vvsgnlmitw
      241 wsslfllgvl fqgylgclrs hsvlgrrkkq krkqkqtttn kmeisttqrt apgtnshtes
      301 rkvqqynssd ifegrprwyf fcvfyff
//
LOCUS       XP_054187139            1094 aa            linear   PRI 20-MAR-2023
DEFINITION  large proline-rich protein BAG6 isoform X6 [Homo sapiens].
ACCESSION   XP_054187139
VERSION     XP_054187139.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331164.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167248.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1094
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1094
                     /product="large proline-rich protein BAG6 isoform X6"
                     /calculated_mol_wt=114953
     CDS             1..1094
                     /gene="BAG6"
                     /gene_synonym="BAG-6; BAT3; D6S52E; G3"
                     /coded_by="XM_054331164.1:166..3450"
                     /db_xref="GeneID:7917"
                     /db_xref="HGNC:HGNC:13919"
                     /db_xref="MIM:142590"
ORIGIN      
        1 mepndststa veepdslevl vktldsqtrt fivgaqmnvk efkehiaasv sipsekqrli
       61 yqgrvlqddk klqeynvggk vihlverapp qthlpsgass gtgsasathg ggsppgtrgp
      121 gasvhdrnan syvmvgtfnl pseprvrlvm aqhmirdiqt llsrmecrgg pqpqhsqppp
      181 qppavtpepv alssqtsepv eseapprepm eaeeveerap aqnpeltpgp apagptpape
      241 tnapnhpspa eyvevlqelq rlesrlqpfl qryyevlgaa attdynnnhe greedqrlin
      301 lvgeslrllg ntfvalsdlr cnlactpprh lhvvrpmshy ttpmvlqqaa ipiqinvgtt
      361 vtmtgngtrp pptpnaeapp pgpgqassva psstnvessa egapppgpap ppatshprvi
      421 rishqsvepv vmmhmniqds gtqpggvpsa ptgplgppgh gqtlgstliq lpslppefmh
      481 avahqithqa mvaavasaaa gqqvpgfpta ptrvviarpt ppqarpshpg gppvsgtlga
      541 glgtnaslaq mvsglvgqll mqpvlvaqgt pgmapppapa tasasagttn tattagpapg
      601 gpaqppptpq psmadlqfsq llgnllgpag pgaggsgvas ptitvampgv paflqgmtdf
      661 lqatqtappp pppppppppa peqqtmpppg spsggagspg glgleslspe fftsvvqgvl
      721 ssllgslgar agssesiaaf iqrlsgssni fepgadgalg ffgallsllc qnfsmvdvvm
      781 llhghfqplq rlqpqlrsff hqhylggqep tpsnirmath tlitgleeyv resfslvqvq
      841 pgvdiirtnl eflqeqfnsi aahvlhctds gfgarllelc nqglfeclal nlhclggqqm
      901 elaavingri rrmsrgvnps lvswlttmmg lrlqvvlehm pvgpdailry vrrvgdppqp
      961 lpeepmevqg aeraspepqr enaspapgtt aeeamsrgpp papeggsrde qdgasaetep
     1021 waaavppewv piiqqdiqsq rkvkpqppls daylsgmpak rrklrsdiqk rlqedpnysp
     1081 qrfpnaqraf addp
//
LOCUS       XP_054188364             913 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium/hydrogen exchanger 10 isoform X6 [Homo sapiens].
ACCESSION   XP_054188364
VERSION     XP_054188364.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332389.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_019805492.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..913
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.2"
     Protein         1..913
                     /product="sodium/hydrogen exchanger 10 isoform X6"
                     /calculated_mol_wt=104561
     CDS             1..913
                     /gene="SLC9C1"
                     /gene_synonym="NHE; NHE-10; SLC9A10; sperm-NHE"
                     /coded_by="XM_054332389.1:212..2953"
                     /db_xref="GeneID:285335"
                     /db_xref="HGNC:HGNC:31401"
                     /db_xref="MIM:612738"
ORIGIN      
        1 magifkefff stedlpevil tlslissiga flnrhledfp ipvpvilfll gcsfevlsft
       61 ssqvqryana iqwmspdlff riftpvvfft tafdmdtyml qklfwqilli sipgflvnyi
      121 lvlwhlasvn qlllkptqwl lfsailvssd pmltaaaird lglsrslisl ingeslmtsv
      181 islitftsim dfdqrlqskr nhtlaeeivg gicsyiiasf lfgilsskli qfwmstvfgd
      241 dvnhislifs ilylifyice lvgmsgiftl aivglllnst sfkaaieetl llefwtflsr
      301 iaflmvftff gllipahtyl yiefvdiyys lniyltlivl rfltlllisp vlsrvghefs
      361 wrwifimvcs emkgmpninm alllaysdly fgsdkeksqi lfhgvlvcli tlvvnrfilp
      421 vavtilglrd atstkyksvc ctfqhfqelt ksaasalkfd kdlanadwnm iekaitlenp
      481 ymlneeette hqkvkcphcn keideifnte amelanrrll saqiasyqrq yrneilsqsa
      541 vqvlvgaaes fgekkgkcms ldtiknyses qktvtfarkl llnwvyntrk ekegpskyff
      601 frichtivft eefehvgylv ilmnifpfii swisqlnviy hselkhtnyc fltlyileal
      661 lkiaamrkdf fshawnifel aitligilhv ilieidtiky ifnetevivf ikvvqffril
      721 rifkliapkl lqiidkrmsh qktfwygilk gyvqgeadim tiidqitssk qikqmllkqv
      781 irnmehaike lgyleydhpe iavtvktkee invmlnmate ilkafglkgi isktegagin
      841 keqttcfsal lsnqksdesi rhprlhtvia tphpsapwqa amhvsleqlt tcksqignkr
      901 pcslnilhly sdd
//
LOCUS       XP_054191143            1069 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 6 isoform X46
            [Homo sapiens].
ACCESSION   XP_054191143
VERSION     XP_054191143.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335168.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1069
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1069
                     /product="pleckstrin homology domain-containing family A
                     member 6 isoform X46"
                     /calculated_mol_wt=119319
     CDS             1..1069
                     /gene="PLEKHA6"
                     /gene_synonym="PEPP-3; PEPP3"
                     /coded_by="XM_054335168.1:198..3407"
                     /db_xref="GeneID:22874"
                     /db_xref="HGNC:HGNC:17053"
                     /db_xref="MIM:607771"
ORIGIN      
        1 msnktggkrp attnsdipnh nmvsevpper psvratrtar kaiafgkrsh smkrnpnapv
       61 tkagwlfkqa ssgvkqwnkr wfvlvdrclf yykdekeesi lgsipllsfr vaavqpsdni
      121 srkhtfkvtv cwvdeaeass trclslqaeh agvrtyffsa espeeqeawi qamgeaarvq
      181 ippaqksvpq avrhshekpd senvppskhh qqpphnslpk pepeaktrge gdgrgcekae
      241 rrperpevkk eppvkanglp agpepasepg spypegprvp gggeqpaqpn gwqyhspsrp
      301 gstafpsqdg etgghrrsfp prtnpdkiaq rkssmnqlqq wvnlrrgvpp pedlrspsrf
      361 ypvsrrvpey ygpyssqypd dyqyyppgvr pesicsmpay drisppwale dkrhafrngg
      421 gpayqlrewk epasygrqda tvwipspsrq pvyydeldaa ssslrrlslq prshsvprsp
      481 sqgsysrari yspvrspsar ferlpprsed iyadpaayvm rrsisspkvp pypevfrdsl
      541 htyklneqdt dkllgklceq nkvvreqdrl vqqlraekes lesalmgthq elemfgsqpa
      601 ypeklrhkkd slqnqlinir velsqattal tnstieyehl esevsalhdd lweqlnldtq
      661 nevlnrqiqk eiwriqdvme glrknnpsrg tdtakhrggl gpsatyssns pasplssasl
      721 tsplspfslv sgsqgsptkp gsnepkanye qskkdphqtl pldtprdisl vptrqeveae
      781 kqaalnkvgv vpprtksptd devtpsavvr rnasgltngl ssqqerpksa vfpgegkvkm
      841 sveeqidrmr rhqsgsmrek rrslqlpasp apdpsprpay kvvrrhrsih evdisnleaa
      901 lraeepggha yetpreeiar lrkmelepqh ydvdinkels tpdkvliper yidlepdtpl
      961 speelkekqk kveriktlia kssmqnvvpi gegdsvdvpq dsesqlqeqe krieiscala
     1021 teasrrgrml svqcatpspp tspaspappa nplssesprg adssytmrv
//
LOCUS       XP_054191194             670 aa            linear   PRI 20-MAR-2023
DEFINITION  polycomb protein SCMH1 isoform X1 [Homo sapiens].
ACCESSION   XP_054191194
VERSION     XP_054191194.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335219.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..670
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..670
                     /product="polycomb protein SCMH1 isoform X1"
                     /calculated_mol_wt=74511
     CDS             1..670
                     /gene="SCMH1"
                     /gene_synonym="Scml3"
                     /coded_by="XM_054335219.1:443..2455"
                     /db_xref="GeneID:22955"
                     /db_xref="HGNC:HGNC:19003"
                     /db_xref="MIM:616396"
ORIGIN      
        1 mqpnvidwsd vrkhkyghls esasqyqeaa dildlghftw dkylketcsv papvhcfkqs
       61 ytppsnefki smkleaqdpr nttstciatv vgltgarlrl rldgsdnknd fwrlvdsaei
      121 qpigncekng gmlqpplgfr lnasswpmfl lktlngaema pirifhkepp spshnffkmg
      181 mkleavdrkn phficpatig evrgsevlvt fdgwrgafdy wcrfdsrdif pvgwcsltgd
      241 nlqppgtkvv ipknpypasd vntekpsihs stktvlehqp gqrgrkpgkk rgrtpktlis
      301 hpisapskta eplkfpkkrg pkpgskrkpr tllnpppasp ttstpepdts tvpqdaatip
      361 ssamqaptvc iylnkngstg phldkkkvqq lpdhfgpara svvlqqavqa cidcayhqkt
      421 vfsflkqghg gevisavfdr eqhtlnlpav nsityvlrfl eklchnlrsd nlfgnqpftq
      481 thlsltaiey shshdrylpg etfvlgnsla rslephsdsm dsasnptnlv stsqrhrpll
      541 sscglppsta savrrlcsrg vlkgsnerrd mesfwklnrs pgsdrylesr dasrlsgrdp
      601 sswtvedvmq fvreadpqlg phadlfrkhe idgkallllr sdmmmkymgl klgpalklsy
      661 hidrlkqgkf
//
LOCUS       XP_054223169             428 aa            linear   PRI 20-MAR-2023
DEFINITION  glycylpeptide N-tetradecanoyltransferase 2 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054223169
VERSION     XP_054223169.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367194.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..428
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..428
                     /product="glycylpeptide N-tetradecanoyltransferase 2
                     isoform X5"
                     /calculated_mol_wt=50169
     CDS             1..428
                     /gene="NMT2"
                     /coded_by="XM_054367194.1:164..1450"
                     /db_xref="GeneID:9397"
                     /db_xref="HGNC:HGNC:7858"
                     /db_xref="MIM:603801"
ORIGIN      
        1 mrrrrstpke vlegiwepkr krrnrrekrr nqipeapsqt rhliprrlkf sslrnttpsg
       61 srfqreqpwn psvpmqklqd iqramellsa cqgparnide aakhryqfwd tqpvpkldev
      121 itshgaiepd kdnvrqepys lpqgfmwdtl dlsdaevlke lytllnenyv edddnmfrfd
      181 yspefllwal rppgwllqwh cgvrvssnkk lvgfisaipa niriydrywh rslnprklve
      241 vkfshlsrnm tlqrtmklyr lpdvtktsgl rpmepkdiks vrelintylk qfhlapvmde
      301 eevahwflpr ehiidtfvve spngkltdfl sfytlpstvm hhpahkslka aysfynihte
      361 tplldlmsda lilakskgfd vfnaldlmen ktfleklkfg igdgnlqyyl ynwrcpgtds
      421 ekvglvlq
//
LOCUS       XP_054223308             530 aa            linear   PRI 20-MAR-2023
DEFINITION  rho-related BTB domain-containing protein 1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054223308
VERSION     XP_054223308.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367333.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..530
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..530
                     /product="rho-related BTB domain-containing protein 1
                     isoform X4"
                     /calculated_mol_wt=59860
     CDS             1..530
                     /gene="RHOBTB1"
                     /coded_by="XM_054367333.1:277..1869"
                     /db_xref="GeneID:9886"
                     /db_xref="HGNC:HGNC:18738"
                     /db_xref="MIM:607351"
ORIGIN      
        1 mdadmdyerp nvetikcvvv gdnavgktrl icaracnttl tqyqllathv ptvwaidqyr
       61 vcqevlersr dvvdevsvsl rlwdtfgdhh kdrrfaygrs dvvvlcfsia npnslnhvks
      121 mwypeikhfc prtpvilvgc qldlryadle avnrarrpla rpikrgdilp pekgrevake
      181 lglpyyetsv fdqfgikdvf dnairaalis rrhlqfwksh lkkvqkpllq apflppkapp
      241 pvikipecps mgtneaacll dnplcadvlf ilqdqehifa hriylatsss kfydlflmec
      301 eespngsega cekekqsrdf qgrilsvdpe eereegppri pqadqwkssn kslvealgle
      361 aegavpetqt ltgwskgfig mhremqvnpi skrmgpmtvv rmdasvqpgp frtllqflyt
      421 gqldekekdl vglaqiaevl emfdlrmmve nimnkeafmn qeitkafhvr kanrikecls
      481 kgtfsdvtfk lddgaisahk pllicscewm aamfggsfve sansesrphp
//
LOCUS       XP_054225648             570 aa            linear   PRI 20-MAR-2023
DEFINITION  excitatory amino acid transporter 2 isoform X4 [Homo sapiens].
ACCESSION   XP_054225648
VERSION     XP_054225648.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369673.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..570
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..570
                     /product="excitatory amino acid transporter 2 isoform X4"
                     /calculated_mol_wt=61585
     CDS             1..570
                     /gene="SLC1A2"
                     /gene_synonym="DEE41; EAAT2; EIEE41; GLT-1; GLT1; HBGT"
                     /coded_by="XM_054369673.1:119..1831"
                     /db_xref="GeneID:6506"
                     /db_xref="HGNC:HGNC:10940"
                     /db_xref="MIM:600300"
ORIGIN      
        1 mgannmpkqv evrmhdshlg seepkhrhlg lrlcdklgkn llltltvfgv ilgavcggll
       61 rlaspihpdv vmliafpgdi lmrmlkmlil pliisslitg lsgldakasg rlgtramvyy
      121 msttiiaavl gvilvlaihp gnpklkkqlg pgkkndevss ldafldlirn lfpenlvqac
      181 fqqiqtvtkk vlvapppdee anatsavvsl lnetvtevpe etkmvikkgl efkdgmnvlg
      241 ligffiafgi amgkmgdqak lmvdffniln eivmklvimi mwysplgiac licgkiiaik
      301 dlevvarqlg mymvtviigl iihggiflpl iyfvvtrknp fsffagifqa witalgtass
      361 agtlpvtfrc leenlgidkr vtrfvlpvga tinmdgtaly eavaaifiaq mngvvldggq
      421 ivtvsltatl asvgaasips aglvtmllil tavglptedi sllvavdwll drmrtsvnvv
      481 gdsfgagivy hlskseldti dsqhrvhedi emtktqsiyd dmknhresns nqcvyaahns
      541 vivdeckvtl aangksadcs veeepwkrek
//
LOCUS       XP_054227675             621 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054227675
VERSION     XP_054227675.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371700.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..621
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..621
                     /product="beta-1,4 N-acetylgalactosaminyltransferase 1
                     isoform X3"
                     /calculated_mol_wt=67942
     CDS             1..621
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /coded_by="XM_054371700.1:134..1999"
                     /db_xref="GeneID:2583"
                     /db_xref="HGNC:HGNC:4117"
                     /db_xref="MIM:601873"
ORIGIN      
        1 mqerarrkea grpwglgseg rgtgktaags anpsamcgve salgsrqell rtrgprapsl
       61 alpsslpfsl ptlppprmwl grralcalvl llacaslgll yastrdapgl rlplapwapp
      121 qsprrpelpd lapepryahi pvrikeqvvg llawnncsce ssggglplpf qkqvraidlt
      181 kafdpaelra asatreqefq aflsrsqspa dqlliapans plqyplqgve vqplrsilvp
      241 glslqaasgq evyqvnltas lgtwdvagev tgvtltgegq adltlvspgl dqlnrqlqlv
      301 tyssrsyqtn tadtvrfste gheaaftiri rhppnprlyp pgslpqgaqy nisalvtiat
      361 ktflrydrlr alitsirrfy ptvtvviadd sdkpervsgp yvehylmpfg kgwfagrnla
      421 vsqvttkyvl wvdddfvfta rtrlerlvdv lertpldlar leatslslqv ggavreisgf
      481 attyrqllsv epgapglgnc lrqrrgfhhe lvgfpgcvvt dgvvnfflar tdkvrevgfd
      541 prlsrvahle ffldglgslr vgscsdvvvd hasklklpwt srdagaetya ryrypgslde
      601 sqmakhrllf fkhrlqcmts q
//
LOCUS       XP_054229808             414 aa            linear   PRI 20-MAR-2023
DEFINITION  ras association domain-containing protein 9 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054229808
VERSION     XP_054229808.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373833.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..414
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..414
                     /product="ras association domain-containing protein 9
                     isoform X1"
                     /calculated_mol_wt=47440
     CDS             1..414
                     /gene="RASSF9"
                     /gene_synonym="P-CIP1; PAMCI; PCIP1"
                     /coded_by="XM_054373833.1:320..1564"
                     /db_xref="GeneID:9182"
                     /db_xref="HGNC:HGNC:15739"
                     /db_xref="MIM:610383"
ORIGIN      
        1 mdseekeivv wvcqeeklvc gltkrttsad viqalleehe atfgekrfll gkpsdyciie
       61 kwrgservlp pltrilklwk awgdeqpnmq fvlvkadafl pvplwrtaea klvqnteklw
      121 elspanymkt lppdkqkriv rktfrklaki kqdtvshdrd nmetlvhlii sqdhtihqqv
      181 krmkeldlei ekceakfhld rvendgenyv qdaylmpsfs eveqnldlqy eenqtledls
      241 esdgieqlee rlkyyrilid klsaeiekev ksvcidined aegeaasele ssnlesvkcd
      301 leksmkaglk ihshlsgiqk eikysdsllq mkakeyella kefnslhisn kdgcqlkenr
      361 akesevpssn geippftqrv fsnytndtds dtgissnhsq dsettvgdvv llst
//
LOCUS       XP_054230685             732 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor SPT20 homolog isoform X25 [Homo sapiens].
ACCESSION   XP_054230685
VERSION     XP_054230685.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374710.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..732
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..732
                     /product="transcription factor SPT20 homolog isoform X25"
                     /calculated_mol_wt=79843
     CDS             1..732
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /coded_by="XM_054374710.1:222..2420"
                     /db_xref="GeneID:55578"
                     /db_xref="HGNC:HGNC:20596"
                     /db_xref="MIM:613417"
ORIGIN      
        1 mqqalelald raeyviesar qrppkrkyls sgrksvfqkl ydlyieecek epevkklrrn
       61 vnlleklvmq etlsclvvnl ypgnegyslm lrgkngsdse tirlpyeege lleyldaeel
      121 ppilvdllek sqvnifhcgc viaeirdyrq ssnmkspgyq srhillrptm qtlicdvhsi
      181 tsdnhkwtqe dklllesqli lataeplcld psiavtctan rllynkqkmn trpmkrcfkr
      241 ysrsslnrqq dlshcppppq lrlldflqkr kerkagqhyd lkiskagncv dmwkrspcnl
      301 aipsevdvek yakveksiks ddsqptvwpa hdvkddyvfe ceagtqyqkt kltilqslgd
      361 plyygkiqpc kadeesdsqm spshsstddh snwfiigskt daervvnqyq elvqneakcp
      421 vkmshsssgs aslsqvspgk etdqtetvsv qssvlgkgvk hrpppiklps ssgnsssgny
      481 ftpqqtssfl ksptpppssk pssiprkssv dlnqvsmlsp aalspasssq rttatqvman
      541 saglnfinvv gsvcgaqalm sgsnpmlgcn tgaitpagin lsgllpsggl lpnalpsamq
      601 aasqagvpfg lkntsslrpl nllqlpggsl ifntlqqqqq qlsqftpqqp qqpttcspqq
      661 pgeqgseqgs tsqeqalsaq qaavinltgv gsfmqsqaaa vailaasngy gsssstnssa
      721 tsssayrqpv kk
//
LOCUS       XP_054234285             778 aa            linear   PRI 20-MAR-2023
DEFINITION  dipeptidyl peptidase 8 isoform X8 [Homo sapiens].
ACCESSION   XP_054234285
VERSION     XP_054234285.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378310.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..778
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..778
                     /product="dipeptidyl peptidase 8 isoform X8"
                     /calculated_mol_wt=89326
     CDS             1..778
                     /gene="DPP8"
                     /gene_synonym="DP8; DPRP-1; DPRP1; MST097; MSTP097;
                     MSTP135; MSTP141"
                     /coded_by="XM_054378310.1:304..2640"
                     /db_xref="GeneID:54878"
                     /db_xref="HGNC:HGNC:16490"
                     /db_xref="MIM:606819"
ORIGIN      
        1 mwkrseqmki ksgkcnmaaa meteqlgvei fetadceeni esqdrpklep fyveryswsq
       61 lkklladtrk yhgymmakap hdfmfvkrnd pdgphsdriy ylamsgenre ntlfyseipk
      121 tinraavlml swkplldlfq atldygmysr eeellrerkr igtvgiasyd yhqgsgtflf
      181 qagsgiyhvk dggpqgftqq plrpnlvets cpnirmdpkl cpadpdwiaf ihsndiwisn
      241 ivtreerrlt yvhnelanme edarsagvat fvlqeefdry sgywwcpkae ttpsggkilr
      301 ilyeendese veiihvtspm letrradsfr ypktgtanpk vtfkmseimi daegriidvi
      361 dkeliqpfei lfegveyiar agwtpegkya wsilldrsqt rlqivlispe lfipveddvm
      421 erqrliesvp dsvtpliiye ettdiwinih difhvfpqsh eeeiefifas ecktgfrhly
      481 kitsilkesk ykrssgglpa psdfkcpike eiaitsgewe vlgrhgsniq vdevrrlvyf
      541 egtkdspleh hlyvvsyvnp gevtrltdrg yshsccisqh cdffiskysn qknphcvsly
      601 klsspeddpt cktkefwati ldsagplpdy tppeifsfes ttgftlygml ykphdlqpgk
      661 kyptvlfiyg gpqvqlvnnr fkgvkyfrln tlaslgyvvv vidnrgschr glkfegafky
      721 kmvaiagapv tlwifydtgy terymghpdq neqgyylgsv amqaekfpse silrrdta
//
LOCUS       XP_054170294             229 aa            linear   PRI 20-MAR-2023
DEFINITION  SPRY domain-containing SOCS box protein 3 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054170294
VERSION     XP_054170294.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314319.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..229
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..229
                     /product="SPRY domain-containing SOCS box protein 3
                     isoform X3"
                     /calculated_mol_wt=24623
     CDS             1..229
                     /gene="SPSB3"
                     /gene_synonym="C16orf31; SSB3"
                     /coded_by="XM_054314319.1:17..706"
                     /db_xref="GeneID:90864"
                     /db_xref="HGNC:HGNC:30629"
                     /db_xref="MIM:611659"
ORIGIN      
        1 mgvwvafhri ylgfiellrs wgeilstmar rprnsrawhf vlsaarrdad aravalagst
       61 nwgydsdgqv gssgrggrgw pkvwrcprqa grhylntesv gekdasearg pvqtwaclld
      121 aphshsdsds dpeystlpps ipsavpvtge sfcdcagqse asfcsslhsa hrgrdcrcge
      181 edecergaqp llglhcgraw gwagqspmel sglpqpgpll qistgsgmt
//
LOCUS       XP_054171513            1049 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 131 kDa isoform X12 [Homo sapiens].
ACCESSION   XP_054171513
VERSION     XP_054171513.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315538.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1049
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1049
                     /product="centrosomal protein of 131 kDa isoform X12"
                     /calculated_mol_wt=117460
     CDS             1..1049
                     /gene="CEP131"
                     /gene_synonym="AZ1; AZI1; ZA1"
                     /coded_by="XM_054315538.1:215..3364"
                     /db_xref="GeneID:22994"
                     /db_xref="HGNC:HGNC:29511"
                     /db_xref="MIM:613479"
ORIGIN      
        1 mkgtraigsv perspagvdl sltglpppvs rrpgsaattk pivrsvsvvt gseqkrkvle
       61 atgpggsqai nnlrrsnstt qvsqprsgsp rpteptdflm lfegspsgkk rpaslstaps
      121 ekgatwnvld dqprgftlps narsssalds pagprrkect valapnftan nrsnkgavgn
      181 cvttmvhnry tpserapplk ssnqtapsln niikaatceg sessgfgklp knvssathsa
      241 rnntggstgl prrkevteee aerfihqvnq aavtiqrwyr hqvqrrgaga arlehllqak
      301 reeqrqrsge gtlldlhqqk eaarrkaree karqarraai qelqqkralr aqkastaerg
      361 ppenpretrv pgmrqpaqel sptpggtahq alkannaggg lpaagpgdrc lptsdsspep
      421 qqppedrtqd vlaqdaagdn lemmapsrgs aksrgpleel lhtlqlleke pdalprprth
      481 hrgryawase vtteddassl tadnlekfgk lsafpepped gtllseaklq simsfldeme
      541 ksgqdqldsq qegwvpeagp gplelgsevs tsvmrlklev eekkqamlll qralaqqrdl
      601 tarrvketek alsrqlqrqr ehyeatiqrh lafidqlied kkvlsekcea vvaelkqedq
      661 rctervaqaq aqheleikkl kelmsateka rrekwisekt kkikevtvrg lepeiqklia
      721 rhkqevrrlk slheaellqs derasqrclr qaeelreqle rekealgqqe rerarqrqra
      781 eleelrqqle esssaltral raefekgree qerrhqmeln tlkqqleler qaweagrtrk
      841 eeawllnreq elreeirkgr dkeielvihr leadmalake esekaaesri krlrdkyeae
      901 lseleqserk lqercselkg qlgeaegenl rlqglvrqke raledaqavn eqlssersnl
      961 aqvirqefed rlaaseeetr qakaelatlq arqqleleev hrrvktalar keeavsslrt
     1021 qhevspcgqp cwtsglgagl tlwvccrlr
//
LOCUS       XP_054172374             708 aa            linear   PRI 20-MAR-2023
DEFINITION  rabankyrin-5 isoform X6 [Homo sapiens].
ACCESSION   XP_054172374
VERSION     XP_054172374.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316399.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..708
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..708
                     /product="rabankyrin-5 isoform X6"
                     /calculated_mol_wt=76614
     CDS             1..708
                     /gene="ANKFY1"
                     /gene_synonym="ANKHZN; BTBD23; ZFYVE14"
                     /coded_by="XM_054316399.1:102..2228"
                     /db_xref="GeneID:51479"
                     /db_xref="HGNC:HGNC:20763"
                     /db_xref="MIM:607927"
ORIGIN      
        1 mglhlmrtal qpdsssaaat qthltrrqge tplhtacrhg lanltaellq qganpnlqte
       61 ealplpkeaa sltsladsvh lqtplhmaia ynhpdvvsvi leqkanalha tnnlqiipdf
      121 slkdsrdqtv lglalwtgmh tiaaqllgsg aaindtmsdg qtllhmaiqr qdsksalfll
      181 ehqadinvsr tqdgetalql airnqlplvv daictrgadm svpdekgnpp lwlalannle
      241 diastlvrhg cdatcwgpgp ggclqtllhr aidennepta cflirsgcdv nsprqpgang
      301 egeeeardgq tplhlaaswg leetvqclle fganvnaqda egrtpihvai ssqhgviiql
      361 lvshpdihln vrdrqgltpf acamtfknnk saeailkres gaaeqvdnkg rnflhvavqn
      421 sdiesvlfli svhanvnsrv qdaskltplh lavqagseii vrnlllagak vneltkhrqt
      481 alhlaaqqdl pticsvllen gvdfaavden gnnalhlavm hgrlnnirvl ltectvdaea
      541 fnlrgqsplh ilgqygkena aaifdlflec mpgypldkpd adgstvllla ymkgnanlcr
      601 aivrsgarlg vnnnqgvnif nyqvatkqll frlldmlske ppwcdgsycy ectarfgvtt
      661 rkhhcrhcgr llchkcstke ipiikfdlnk pvrvcnicfd vltlggvs
//
LOCUS       XP_054172399             738 aa            linear   PRI 20-MAR-2023
DEFINITION  platelet endothelial cell adhesion molecule isoform X8 [Homo
            sapiens].
ACCESSION   XP_054172399
VERSION     XP_054172399.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316424.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..738
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..738
                     /product="platelet endothelial cell adhesion molecule
                     isoform X8"
                     /calculated_mol_wt=82319
     CDS             1..738
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /coded_by="XM_054316424.1:1414..3630"
                     /db_xref="GeneID:5175"
                     /db_xref="HGNC:HGNC:8823"
                     /db_xref="MIM:173445"
ORIGIN      
        1 mqprwaqgat mwlgvlltll lcsslegqen sftinsvdmk slpdwtvqng knltlqcfad
       61 vsttshvkpq hqmlfykddv lfynissmks tesyfipevr iydsgtykct vivnnkektt
      121 aeyqvlvegv psprvtldkk eaiqggivrv ncsvpeekap ihftieklel nekmvklkre
      181 knsrdqnfvi lefpveeqdr vlsfrcqari isgihmqtse stkselvtvt esfstpkfhi
      241 sptgmimega qlhikctiqv thlaqefpei iiqkdkaiva hnrhgnkavy svmamvehsg
      301 nytckvessr iskvssivvn itelfskpel essfthldqg erlnlscsip gappanftiq
      361 kedtivsqtq dftkiasksd sgtyictagi dkvvkksntv qivvcemlsq prisydaqfe
      421 vikgqtievr cesisgtlpi syqllktskv lenstknsnd pavfkdnpte dveyqcvadn
      481 chshakmlse vlrvkviapv devqisilss kvvesgediv lqcavnegsg pitykfyrek
      541 egkpfyqmts natqafwtkq kankeqegey yctafnranh assvprskil tvrvilapwk
      601 kgliavviig viialliiaa kcyflrkaka kqmpvemsrp avpllnsnne kmsdpnmean
      661 shyghnddvg nhamkpindn keplnsdvqy tevqvssaes hkdlgkkdte tvysevrkav
      721 pdavesrysr tegsldgt
//
LOCUS       XP_054176178             206 aa            linear   PRI 20-MAR-2023
DEFINITION  IgG receptor FcRn large subunit p51 isoform X4 [Homo sapiens].
ACCESSION   XP_054176178
VERSION     XP_054176178.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320203.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..206
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..206
                     /product="IgG receptor FcRn large subunit p51 isoform X4"
                     /calculated_mol_wt=22889
     CDS             1..206
                     /gene="FCGRT"
                     /gene_synonym="alpha-chain; FcgammaRn; FCRN"
                     /coded_by="XM_054320203.1:105..725"
                     /db_xref="GeneID:2217"
                     /db_xref="HGNC:HGNC:3621"
                     /db_xref="MIM:601437"
ORIGIN      
        1 mgvprpqpwa lglllfllpg slgaeshlsl lyhltavssp apgtpafwvs gwlgpqqyls
       61 ynslrgeaep cgawvwenqv swywekettd lrikeklfle afkalggkgp ytlqgllgce
      121 lgpdntsvpt akfalngeef mnfdlkqgtw ggdwpealai sqrwqqqdka ankeltfllf
      181 scphrlrehl ergrgnlewk gtctva
//
LOCUS       XP_054176356            1015 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 18 isoform X5 [Homo
            sapiens].
ACCESSION   XP_054176356
VERSION     XP_054176356.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320381.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1015
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1015
                     /product="rho guanine nucleotide exchange factor 18
                     isoform X5"
                     /calculated_mol_wt=113946
     CDS             1..1015
                     /gene="ARHGEF18"
                     /gene_synonym="P114-RhoGEF; p114RhoGEF; RP78; SA-RhoGEF"
                     /coded_by="XM_054320381.1:146..3193"
                     /db_xref="GeneID:23370"
                     /db_xref="HGNC:HGNC:17090"
                     /db_xref="MIM:616432"
ORIGIN      
        1 mtvsqkggpq ptpspagpgt qlgpitgemd eadsaflkfk qtaddslslt spntesifve
       61 dpytaslrse iesdghefea eswslavdaa yakkqkrevv krqdvlyelm qtevhhvrtl
      121 kimlkvysra lqeelqfssk aigrlfpcad dllethshfl arlkerrqes leegsdrnyv
      181 iqkigdllvq qfsgengerm kekygvfcsg hneavshykl llqqnkkfqn likkignfsi
      241 vrrlgvqeci llvtqritky pvlveriiqn teagtedyed ltqalnlikd iisqvdakvs
      301 ecekgqrlre iagkmdlkss sklkngltfr kedmlqrqlh legmlcwktt sgrlkdilai
      361 lltdvllllq ekdqkyvfas vdskppvisl qklivrevan eekamflisa slqgpemyei
      421 ytsskedrna wmahiqrave scpdeeegpf slpeeerkvv earatrlrdf qerlsmkdql
      481 iaqsllekqq iylemaemgg ledlpqprgl frggdpsetl qgelilksam seiegiqsli
      541 crqlgsangq aedggsstgp prraetfagy dctnsptkng sfkkkvsstd prprdwrgpp
      601 nspdlklsds dipgsseesp qvveapgtes dprlptvles elvqriqtls qlllnlqavi
      661 ahqdsyvetq raaiqerekq frlqstrgnl lleqerqrnf ekqreeraal eklqsqlrhe
      721 qqrwererqw qhqeleraga rlqeregear qlrerleqer aelerqrqay qhdlerlrea
      781 qravererer lellrrlkkq ntapgalppd tlaeaqppsh ppsfngegle gprvsmlpsg
      841 vgpeyaerpe varrdsapte nrlaksdvpi qllsatnqfq rqaavqqqip tklaastkgg
      901 kdkggksrgs qrwessasfd lkqqlllnkl mgkdestsrn rrslspilpg rhspapppdp
      961 gfpapspppa dspsegfslk aggtallpgp papsplpatp lsakedaske dviff
//
LOCUS       XP_054176715             736 aa            linear   PRI 20-MAR-2023
DEFINITION  orphan sodium- and chloride-dependent neurotransmitter transporter
            NTT5 isoform X5 [Homo sapiens].
ACCESSION   XP_054176715
VERSION     XP_054176715.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320740.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..736
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..736
                     /product="orphan sodium- and chloride-dependent
                     neurotransmitter transporter NTT5 isoform X5"
                     /calculated_mol_wt=82069
     CDS             1..736
                     /gene="SLC6A16"
                     /gene_synonym="NT5; NTT5"
                     /coded_by="XM_054320740.1:306..2516"
                     /db_xref="GeneID:28968"
                     /db_xref="HGNC:HGNC:13622"
                     /db_xref="MIM:607972"
ORIGIN      
        1 mkteaqpsts llantswtgt visdsvpgsq twedkgsltr satswtseaq vsaarvaeaq
       61 artsqpkqis vlealtasal nqkpthekvq mtekkesevl larpfwsskt eyilaqvgfs
      121 mkpsclwrfa ylwlnsggcs faaiyifmlf lvgvpllfle maagqsmrqg gmgvwkiiap
      181 wiggvgyssf mvcfilglyf nvvnswiify msqsfqfpvp wekcpltmns sgfdpecert
      241 tpsiyfwyqq alkasdried ggspvyslvl pfflcwclvg afminglkst gkviyvlvll
      301 pcfiivgffi rtlllegakf glqqlvvaki sdvynmsvws laggqvlsnt giglgsvasl
      361 asympqsnnc lsdaflvsvi nlltllvfts fnfcvlgfwa tvithrccer naeillklin
      421 lgklppdakp pvnllynpts iynawlsglp qhiksmvlre vtecnietqf lkasegpkfa
      481 flsfveamsf lppsvfwsfi fflmllamgl ssaigimqgi itplqdtfsf frkhtklliv
      541 gvfllmfvcg lfftrpsgsy firllsdywi vfpiivvvvf etmavswayg arrfladlti
      601 llghpispif gwlwphlcpv vlliifvtmm vhlcmkpity mswdsstske vlrpyppwal
      661 llmitlfaiv ilpipayfvy crihripfrp ksgdgpmtas tslplshqlt pskevqkeei
      721 lqvdetkyps tcnvts
//
LOCUS       XP_054196297             794 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear body protein SP140 isoform X25 [Homo sapiens].
ACCESSION   XP_054196297
VERSION     XP_054196297.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340322.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..794
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..794
                     /product="nuclear body protein SP140 isoform X25"
                     /calculated_mol_wt=90407
     CDS             1..794
                     /gene="SP140"
                     /gene_synonym="LYSP100; LYSP100-A; LYSP100-B"
                     /coded_by="XM_054340322.1:110..2494"
                     /db_xref="GeneID:11262"
                     /db_xref="HGNC:HGNC:17133"
                     /db_xref="MIM:608602"
ORIGIN      
        1 maqqgqqgqm asgdsnlnfr mvaeiqnveg qnlqeqvcpe pifrffrenk veiasaitrp
       61 fpflmglrdr sfiseqmyeh fqeafrnlvp vtrvmycvls elektfgwsh lealfsrinl
      121 maypdlneiy rsfqnvcyeh splqmnnvnd ledrprllpy gkqensnach emddiavpqe
      181 alsssprcep gfssesceql alpkagggda edapsllpvs cklaiqideg eseempkllp
      241 ydtevlesng midaartyst apgekqgeee grnsprkrnq dkekyqespe grdketfdlk
      301 tpqvtnegep ekglcllpge geegsddcse mcdgeerqea ssslarrgsv sselenhpmn
      361 eegeseelas sllydnvpga eqsayenekc scvmcfseev pgspeartes dqacgtmdtv
      421 diannstlgk pkrkrrkkrg hgwsrmrmrr qknsqqndns kadgqvvsse kkanvnlkdl
      481 skirgrkrgk pgtrftqsdr aaqkrvrsra srkhkdetvd fkapllpvtc ggvkgilhkk
      541 klqqgilvkc iqtedgkwft ptefeikggh arsknwrlsv rcggwplrwl mengflpdpp
      601 riryrkkkri lksqnnssvd pcmrnldece vcrdggelfc cdtcsrvfhe dchippveae
      661 rmkespgsqq ccqesevler qmcpeeqlkc eflllkvycc sessffakip yyyyireacq
      721 glkepmwldk ikkrlnehgy pqvegfvqdm rlifqnhras ykykdfgqmg frleaefekn
      781 fkevfaiqet ngnn
//
LOCUS       XP_054200261            1820 aa            linear   PRI 20-MAR-2023
DEFINITION  protein TANC1 isoform X19 [Homo sapiens].
ACCESSION   XP_054200261
VERSION     XP_054200261.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344286.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1820
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1820
                     /product="protein TANC1 isoform X19"
                     /calculated_mol_wt=197501
     CDS             1..1820
                     /gene="TANC1"
                     /gene_synonym="ROLSB; TANC"
                     /coded_by="XM_054344286.1:159..5621"
                     /db_xref="GeneID:85461"
                     /db_xref="HGNC:HGNC:29364"
                     /db_xref="MIM:611397"
ORIGIN      
        1 mlkavlkksr eggkggkkea gsdfgpetss vlhldhsads pvsslptaed tyrvslakgv
       61 smslpsspll prqshlvqsr vnkkspgpvr kpkyvesprv pgdavimpfr evakptepde
      121 heakadneps cspaaqellt rlgfllgegi psathitied knetmctals qgispcstlt
      181 sstaspstds pcstlnscvs ktaankspce tisspsstle skdsgiiati tsssenddrs
      241 gsslewnkdg slrlgvqkgv lhdrradncs pvaeeettgs aestlpkaes sagdgpvpys
      301 qgssslimpr pnsvaarfap ykpqdillkp llfevpsitt dsvfvgrdwl fhqieenlrn
      361 telaenrgav vvgnvgfgkt aiisklvals chgsrmrqia snspgsspkt sdptqdlhft
      421 pllspsssts asstaktplg sisaenqrpr edavkylask vvayhycqad ntytclvpef
      481 vhsiaallcr shqlaayrdl likepqlqsm lslrscvqdp vaafkrgvle pltnlrneqk
      541 ipeeeyiili dglneaefhk pdygdtlssf itkiiskfpa wlklivtvra nfqeiisalp
      601 fvklslddfp dnkdihsdlh ayvqhrvhss qdilsnisln gkadatligk vsshlvlrsl
      661 gsylylkltl dlfqrghlvi ksasykvvpv slselyllqc nmkfmtqsaf eralpilnva
      721 laslhpmtde qifqainagh iqgeqgwedf qqrmdalscf likrrdktrm fchpsfrewl
      781 vwradgenta flceprngha llafmfsrqe gklnrqqtme lghhilkahi fkglskktgi
      841 ssshlqalwi gysteglsaa laslrnlytp nvkvsrllil gganvnyrte vlnnapilcv
      901 qshlgheevv tlllefgacl dgtsengmta lcyaaaaghm klvclltkkg vrvdhldkkg
      961 qcalvhsalr ghgdilqyll tcewspgppq pgtlrkshal qqaltaaasm ghssvvqcll
     1021 gmekehevev ngtdtlwget altaaagrgk levcelllgh gaavsrtnrr gvpplfcaar
     1081 qghwqivrll lergcdvnls dkqgrtplmv aaceghlstv efllskgaal ssldkeglsa
     1141 lswaclkghr avvqylveeg aaidqtdkng rtpldlaafy gdaetvlylv ekgaviehvd
     1201 hsgmrpldra igcrntsvvv allrkgaklg naawamatsk pdiliillqk lmeegnvmyk
     1261 kgkmkeaaqr yqyalrkfpr egfgedmrpf nelrvslyln lsrcrrktnd fgmaeefask
     1321 alelkpksye afyararakr nsrqfvaala dlqeavklcp tnqevkrlla rveeeckqlq
     1381 rsqqqkqqgp lpaplndsen eedtptpgls dhfhseetee eetspqeesv sptprsqpss
     1441 svpssyirnl qeglqskgrp vspqsragig kslrepvaqp glllqpskqa qivktsqhlg
     1501 sgqsavrngs mkvqissqnp ppspmpgria aapagsrtqh legtgtfttr agcghfgdrl
     1561 gpsqnvrlqc gengpahplp sktktterll shssvavdaa ppnqgglatc sdvrhpaslt
     1621 ssgssgspss sikmssstss ltssssfsdg fkvqgpdtri kdkvvthvqs gtaehrprnt
     1681 pfmgimdkta rfqqqsnpps rswhcpapeg lltntssaag lqsantekps lmqvggynnq
     1741 aktcsvstls asvhngaqvk eleeskcqip vhsqenritk tvshlyqesi skqqphisne
     1801 ahrshltaak pkrsfiesnv
//
LOCUS       XP_054180327             719 aa            linear   PRI 20-MAR-2023
DEFINITION  lebercilin-like protein isoform X1 [Homo sapiens].
ACCESSION   XP_054180327
VERSION     XP_054180327.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324352.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..719
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..719
                     /product="lebercilin-like protein isoform X1"
                     /calculated_mol_wt=82209
     CDS             1..719
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /coded_by="XM_054324352.1:452..2611"
                     /db_xref="GeneID:150082"
                     /db_xref="HGNC:HGNC:1255"
ORIGIN      
        1 msladltktn idehffsval ennrrsaack rspgtgdfsr nsnasnksvd ysrsqcscgs
       61 lssqydysed flcdcsekai nrnylkqpvv kekekkkynv skisqskvnr wpcyrvpqyl
      121 dftgflpfis aeesvfelpv kckylsqhpk rmvsksgqke isvekkhtwn aslfnsqihm
      181 iaqrrdamah rilsarlhki kglkneladm hhkleailte nqflkqlqlr hlkaigkyen
      241 sqnnlpqima khqnevknlr qllrksqeke rtlsrklret dsqllktkdi lqalqklsed
      301 knlaereelt hklsiittkm dandkkiqsl ekqlrlncra fsrqlaietr ktlaaqtatk
      361 tlqvevkhlq qklkekdrel eikniyshri lknlhdtedy pkvsstksvq adrkilpfts
      421 mrhqgtqksd vpplttkgkk atgnidhkek steinheiph cvnklpkqed skrkyedlsg
      481 eekhlevqil lentgrqkdk kedqekknif vkeeqelppk iievihpere snqedvlvre
      541 kfkrsmqrng vddtlgkgta pytkgplrqr rhysfteate nlhhglpasg gpanagnmry
      601 shstgkhlsn reemelehsd sgyepsfgks srikvkdttf rdkksslmee lfgsgyvlkt
      661 dqsspgvakg seeplqskes hplppsqast shafgdskvt vvnsikpssp tegkrkiii
//
LOCUS       XP_054181212             651 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein EWS isoform X10 [Homo sapiens].
ACCESSION   XP_054181212
VERSION     XP_054181212.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325237.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..651
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..651
                     /product="RNA-binding protein EWS isoform X10"
                     /calculated_mol_wt=67917
     CDS             1..651
                     /gene="EWSR1"
                     /gene_synonym="bK984G1.4; EWS; EWS-FLI1"
                     /coded_by="XM_054325237.1:70..2025"
                     /db_xref="GeneID:2130"
                     /db_xref="HGNC:HGNC:3508"
                     /db_xref="MIM:133450"
ORIGIN      
        1 mastdystys qaaaqqgysa ytaqptqgya qttqaygqqs ygtygqptdv sytqaqttat
       61 ygqtayatsy gqpptgyttp tapqaysqpv qgygtgaydt ttatvtttqa syaaqsaygt
      121 qpaypaygqq paataptrpq dgnkptetsq pqsstggynq pslgygqsny sypqvpgsyp
      181 mqpvtappsy pptsysstqp tsydqssysq qntygqpssy gqqssygqqs sygqqpptsy
      241 ppqtgsysqa psqysqqsss ygqqssfrqd hpssmgvygq esggfsgpge nrsmsgpdnr
      301 grgrggfdrg gmsrggrggg rggmgagerg gfnkpggpmd egpdldlgpp vdpdedsdns
      361 aiyvqglnds vtlddladff kqcgvvkmnk rtgqpmihiy ldketgkpkg datvsyedpp
      421 takaavewfd gkdfqgsklk vslarkkppm nsmrgglppr egrgmppplr ggpggpggpg
      481 gpmgrmggrg gdrggfpprg prgsrgnpsg ggnvqhragd wqcpnpsigd fccdvivcrg
      541 cgnqnfawrt ecnqcgdrgr ggpggmrggr gglmdrggpg gmfrggrggd rggfrggrgm
      601 drggfgggrr ggpggppgpl meqmggrrgg rggpgkmdkg ehrqerrdrp y
//
LOCUS       XP_054208515            2568 aa            linear   PRI 20-MAR-2023
DEFINITION  microtubule-associated serine/threonine-protein kinase 4 isoform X3
            [Homo sapiens].
ACCESSION   XP_054208515
VERSION     XP_054208515.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352540.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2568
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2568
                     /product="microtubule-associated serine/threonine-protein
                     kinase 4 isoform X3"
                     /calculated_mol_wt=278246
     CDS             1..2568
                     /gene="MAST4"
                     /coded_by="XM_054352540.1:264..7970"
                     /db_xref="GeneID:375449"
                     /db_xref="HGNC:HGNC:19037"
                     /db_xref="MIM:618002"
ORIGIN      
        1 mgekvseape pvprgcsghg srtpasalva asspgassae sssgsetlse egepggfsre
       61 hqpppppplg gtlgarapaa wapasvller gvlalppplp ggavppaprg ssasqeeqde
      121 eldhilsppp mpfrkcsnpd vasgpgkslk ykrqlsedgr qlrrgslgga ltgryllpnp
      181 vagqawpasa etsnlvrmrs qalgqsapsl taslkelslp rrgslidsqk wnclvkrcrt
      241 snrksligng qspalprphs plsahagnsp qdsprnfsps asahfsfarr tdgrrwslas
      301 lpssgygtnt psstvssscs sqeklhqlpy qptpdelhfl skhfcttesi atenrcrntp
      361 mrprsrslsp grspaccdhe iimmnhvyke rfpkataqme erlkeiitsy spdnvlplad
      421 gvlsfthhqi ielardcldk shqglitsry flelqhkldk llqeahdrse sgelafikql
      481 vrkiliviar parlleclef dpeefyylle aaeghakegq giktdipryi isqlglnkdp
      541 leemahlgny dsgtaetpet desvsssnas lklrrkpres dfetiklisn gaygavyfvr
      601 hkesrqrfam kkinkqnlil rnqiqqafve rdiltfaenp fvvsmycsfe trrhlcmvme
      661 yveggdcatl mknmgplpvd marmyfaetv laleylhnyg ivhrdlkpdn llvtsmghik
      721 ltdfglskvg lmsmttnlye ghiekdaref ldkqvcgtpe yiapevilrq gygkpvdwwa
      781 mgiilyeflv gcvpffgdtp eelfgqvisd einwpekdea pppdaqdlit lllrqnpler
      841 lgtggayevk qhrffrsldw nsllrqkaef ipqleseddt syfdtrseky hhmeteeedd
      901 tndedfnvei rqfsscshrf skvfssidri tqnsaeeked svdktksttl pstetlswss
      961 eysemqqlst snssdtesnr hklssgllpk laistegeqd eaascpgdph eepgkpalpp
     1021 eecaqeepev ttpastisss tlsdmfavsp lgspmsphsl ssdpsssrds spsrdssaas
     1081 asphqpivih ssgknygfti rairvyvgds diytvhhivw nveegspacq aglkagdlit
     1141 hingepvhgl vhtevielll ksgnkvsitt tpfentsikt gparrnsyks rmvrrskksk
     1201 kkeslerrrs lfkklakqps pllhtsrsfs clnrslssge slpgspthsl sprsptpsyr
     1261 stpdfpsgtn ssqssspsss apnspagsgh irpstlhgla pklggqryrs grrksagnip
     1321 lsplartpsp tpqptspqrs pspllghslg nskiaqafps kmhspptivr hivrpksaep
     1381 prspllkrvq seeklspsyg sdkkhlcsrk hslevtqeev qreqsqreap lqsldenvcd
     1441 vpplsrarpv eqgclkrpvs rkvgrqesvd dldrdklkak vvvkkadgfp ekqeshqksh
     1501 gpgsdlenfa lfkleerekk vypkaverss tfenkasmqe applgsllkd alhkqasvra
     1561 segamsdgpv paehrqgggd frrapapgtl qdglchsldr gisgkgegte kssqakellr
     1621 cekldsklan idylrkkmsl edkednlcpv lkpkmtagsh eclpgnpvrp tggqqepppa
     1681 sesrafvsst haaqmsavsf vplkaltgrv dsgtekpglv apespvrksp seyklegrsv
     1741 sclkpiegtl diallsgpqa sktelpspes aqspspsgdv rasvppvlps ssgkkndtts
     1801 arelspsslk mnksyllepw flppsrglqn spavslpdpe fkrdrkgphp tsrspgtvme
     1861 snpqqregss pkhqdhttdp klltclgqnl hspdlarprc plppeaspsr ekpglresse
     1921 rgpptarser saaradtcre psmelcfpet aktsdnsknl lsvgrthpdf ytqtqameka
     1981 wapggktnhk dgpgearppp rdnsslhsag ipcekelgkv rrgvepkpea llarrslqpp
     2041 gieseksekl ssfpslqkdg akeperkeqp lqrhpssipp ppltakdlss paarqhcssp
     2101 shasgrepga kpstaepsss pqdppkpvaa hsessshkpr pgpdpgppkt khpdrslssq
     2161 kpsvgatkgk epatqslggs sregkghsks gpdvfpatpg sqnkasdgig qgeggpsvpl
     2221 htdrapldak pqptsggrpl evlekpvhlp rpghpgpsep adqklsavge kqtlspkhpk
     2281 pstvkdcptl ckqtdnrqtd kspsqpaant drraegkkct ealyapaegd kleaglsfvh
     2341 senrlkgaer paagvgkgfp eargkgpgpq kppteadkpn gmkrspsatg qssfrstalp
     2401 ekslscsssf petragvrea saassdtssa kaaggmlelp apsnrdhrka qpagegrthm
     2461 tksdslpsfr vstlpleshh pdpntmggas hrdralsvta tvgetkgkdp apaqpppark
     2521 qnvgrdvtkp spapntdrpi slsnekdfvv rqrrgkeslr ssphkkal
//
LOCUS       XP_054211547             451 aa            linear   PRI 20-MAR-2023
DEFINITION  24-hydroxycholesterol 7-alpha-hydroxylase isoform X2 [Homo
            sapiens].
ACCESSION   XP_054211547
VERSION     XP_054211547.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355572.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..451
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..451
                     /product="24-hydroxycholesterol 7-alpha-hydroxylase
                     isoform X2"
                     /calculated_mol_wt=52092
     CDS             1..451
                     /gene="CYP39A1"
                     /coded_by="XM_054355572.1:237..1592"
                     /db_xref="GeneID:51302"
                     /db_xref="HGNC:HGNC:17449"
                     /db_xref="MIM:605994"
ORIGIN      
        1 melisptvii ilgclalfll lqrknlrrpp cikgwipwig vgfefgkapl efiekariky
       61 gpiftvfamg nrmtfvteee ginvflkskk vdfelavqni vyhtgkmgtv nlhqftgqlt
      121 eelheqlenl gthgtmdlnn lvrhllypvt vnmlfnkslf stnkkkikef hqyfqvyded
      181 feygsqlpec llrnwskskk wflelfekni pdikacksak dnsmtllqat ldivetetsk
      241 enspnyglll lwaslsnavp vafwtlayvl shpdihkaim egissvfgka gkdkikvsed
      301 dlenlllikw cvletirlka pgvitrkvvk pveilnyiip sgdllmlspf wlhrnpkyfp
      361 epelfkperw kkanlekhsf ldcfmafgsg kfqcparktn rkeqheppdf frncslqsee
      421 shysrqshik lydlnggirr rdfsveenff e
//
LOCUS       XP_054213367             595 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 467 isoform X4 [Homo sapiens].
ACCESSION   XP_054213367
VERSION     XP_054213367.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357392.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..595
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..595
                     /product="zinc finger protein 467 isoform X4"
                     /calculated_mol_wt=64964
     CDS             1..595
                     /gene="ZNF467"
                     /gene_synonym="EZI; Zfp467"
                     /coded_by="XM_054357392.1:108..1895"
                     /db_xref="GeneID:168544"
                     /db_xref="HGNC:HGNC:23154"
                     /db_xref="MIM:614040"
ORIGIN      
        1 mretlealss lgfsvgqpem apqsepregs hnaqeqmsss reeralgvcs gheaptpeeg
       61 ahteqaeapc rgqacsaqka qpvgtcpgee wmirkvkved edqeaeeeve wpqhlsllps
      121 pfpapdlghl aaayklepga pgalsglals gwgpmpekpy gcgecerrfr dqltlrlhqr
      181 lhrgegpcac pdcgrsftqr ahmllhqrsh rgerpfpcse cdkrfskkah ltrhlrthtg
      241 erpypcaecg krfsqkihlg shqkthtger pfpctecekr frkkthlirh qrihtgerpy
      301 qcaqcarsft hkqhlvrhqr vhqaagparp spdssasphs tapsptpsfp gpkpfacsdc
      361 glsfgwkknl athqclhrse grpfgcdeca lgatvdapaa kplasapggp gcgpgsdpvv
      421 pqrapsgers ffcpdcgrgf shgqhlarhp rvhtgerpfa ctqcdrrfgs rpnlvahsra
      481 hsgarpfaca qcgrrfsrks hlgrhqavht gsrphacavc arsfssktnl vrhqaihtgs
      541 rpfscpqcgk sfsrkthlvr hqlihgeaah aapdaalaap awsappevap pplff
//
LOCUS       XP_054217077             367 aa            linear   PRI 20-MAR-2023
DEFINITION  transforming acidic coiled-coil-containing protein 1 isoform X12
            [Homo sapiens].
ACCESSION   XP_054217077
VERSION     XP_054217077.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361102.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..367
                     /product="transforming acidic coiled-coil-containing
                     protein 1 isoform X12"
                     /calculated_mol_wt=40772
     CDS             1..367
                     /gene="TACC1"
                     /gene_synonym="Ga55"
                     /coded_by="XM_054361102.1:59..1162"
                     /db_xref="GeneID:6867"
                     /db_xref="HGNC:HGNC:11522"
                     /db_xref="MIM:605301"
ORIGIN      
        1 mggshsqtpr grepagerhp rptetasgck vkkhetqsla ldacsrdega visqisdisn
       61 rdghatdeek lastscgqks agaevkgepe edleyfecsn vpvstinhaf ssseagieke
      121 tcqkmeedgs tvlgllessa ekapvsvscg gespldgicl sesdktavlt lireeiitke
      181 ieanewkkky eetrqevlem rkivaeyekt iaqmiedeqr tsmtsqksfq qltmekeqal
      241 adlnsversl sdlfrryenl kgvlegfkkn eealkkcaqd ylarvkqeeq ryqalkihae
      301 ekldkaneei aqvrtkakae saalhaglrk eqmkvesler alqqknqeie eltkicdeli
      361 aklgktd
//
LOCUS       XP_054218762            1227 aa            linear   PRI 20-MAR-2023
DEFINITION  rap guanine nucleotide exchange factor 1 isoform X9 [Homo sapiens].
ACCESSION   XP_054218762
VERSION     XP_054218762.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362787.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1227
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1227
                     /product="rap guanine nucleotide exchange factor 1 isoform
                     X9"
                     /calculated_mol_wt=135946
     CDS             1..1227
                     /gene="RAPGEF1"
                     /gene_synonym="C3G; GRF2"
                     /coded_by="XM_054362787.1:160..3843"
                     /db_xref="GeneID:2889"
                     /db_xref="HGNC:HGNC:4568"
                     /db_xref="MIM:600303"
ORIGIN      
        1 mgnaiekqkp lkrshlypwk qdsqrshlss ftmklmdkfh spkikrtpsk kgkpaevsvk
       61 ipekpvnknl swleekekev vsalryfkti vdkmaidkkv lemlpgsask vleailplvq
      121 ndpriqhssa lsscysrvyq slanlirwsd qvmlegvnse dkemvttvkg vikavldgvk
      181 elvrltiekq grpsptspvk psspaskpdg paelpltdre veilnkttgm sqstellpda
      241 tdeevappkp plpgirvvdn spppalppkk rqsapsptrv avvapmsrat sgsslpvgin
      301 rqdfdvdcya qrrlsggshs yggesprlsp cssigklsks deqlssldrd sgqcsrntsc
      361 etldhydpdy eflqqdlsna dqipqqtawn lsplpeslge sgspflgppf qlplgghpqp
      421 dgplapgqqt dtppalpekk rrsaasqtad gsgcrvsyer hpsqydnisg edlqstapip
      481 svpyapfaai lpfqhggssa pvefvgdfta pestgdpekp pplpekknkh mlaymqlled
      541 ysepqpsmfy qtpqnehiyq qknkllmevy gfsdsfsgvd svqelapppa lppkqrqlqa
      601 scaassfssv shcvqqtkva ftpedgsaaq glsvsvsnsf lsrhgslpvp syksvfrsys
      661 qdfvphhqas vppflpptss ssphfppahq sqssdlavpt magpppstvd gplsasqess
      721 fhgntvclps etsftdssen aseeagegey vnlyssgqss eelapsrgep pagkdghprd
      781 psavsgvpgk dsrdgserap kspdalesaq seeevdelsl idhneimsrl tlkqegddgp
      841 dvrggsgdil lvhatetdrk dlvlyceafl ttyrtfispe elikklqyry ekfspfadtf
      901 kkrvskntff vlvrvvdelc lvelteeilk llmelvfrlv cngelslarv lrknildkvd
      961 qkkllrcats sqplaargva arpgtlhdfh sheiaeqltl ldaelfykie ipevllwake
     1021 qneekspnlt qftehfnnms ywvrsiimlq ekaqdrerll lkfikimkhl rklnnfnsyl
     1081 ailsaldsap irrlewqkqt seglaeyctl idssssfray raalsevepp cipylglilq
     1141 dltfvhlgnp dyidgkvnfs krwqqfnild smrcfqqahy dmrrnddiin ffndfsdhla
     1201 eealwelslk ikprnitrrk tdreekt
//
LOCUS       XP_054218856            2019 aa            linear   PRI 20-MAR-2023
DEFINITION  tenascin isoform X12 [Homo sapiens].
ACCESSION   XP_054218856
VERSION     XP_054218856.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362881.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2019
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2019
                     /product="tenascin isoform X12"
                     /calculated_mol_wt=220597
     CDS             1..2019
                     /gene="TNC"
                     /gene_synonym="150-225; DFNA56; GMEM; GP; HXB; JI; TN;
                     TN-C"
                     /coded_by="XM_054362881.1:545..6604"
                     /db_xref="GeneID:3371"
                     /db_xref="HGNC:HGNC:5318"
                     /db_xref="MIM:187380"
ORIGIN      
        1 mgamtqllag vflaflalat eggvlkkvir hkrqsgvnat lpeenqpvvf nhvyniklpv
       61 gsqcsvdles asgekdlapp sepsesfqeh tvdgenqivf thriniprra cgcaaapdvk
      121 ellsrleele nlvsslreqc tagagcclqp atgrldtrpf csgrgnfste gcgcvcepgw
      181 kgpncsepec pgnchlrgrc idgqcicddg ftgedcsqla cpsdcndqgk cvngvcicfe
      241 gyagadcsre icpvpcseeh gtcvdglcvc hdgfagddcn kplclnncyn rgrcvenecv
      301 cdegftgedc selicpndcf drgrcingtc yceegftged cgkptcphac htqgrceegq
      361 cvcdegfagv dcsekrcpad chnrgrcvdg rcecddgftg adcgelkcpn gcsghgrcvn
      421 gqcvcdegyt gedcsqlrcp ndchsrgrcv egkcvceqgf kgydcsdmsc pndchqhgrc
      481 vngmcvcddg ytgedcrdrq cprdcsnrgl cvdgqcvced gftgpdcael scpndchgqg
      541 rcvngqcvch egfmgkdcke qrcpsdchgq grcvdgqcic hegftgldcg qhscpsdcnn
      601 lgqcvsgrci cnegysgedc sevsppkdlv vtevteetvn lawdnemrvt eylvvytpth
      661 egglemqfrv pgdqtstiir elepgveyfi rvfailenkk sipvsarvat ylpapeglkf
      721 ksiketsvev ewdpldiafe tweiifrnmn kedegeitks lrrpetsyrq tglapgqeye
      781 islhivknnt rgpglkrvtt trldapsqie vkdvtdttal itwfkplaei dgieltygik
      841 dvpgdrttid ltedenqysi gnlkpdteye vslisrrgdm ssnpaketft tgldaprnlr
      901 rvsqtdnsit lewrngkaai dsyrikyapi sggdhaevdv pksqqattkt tltglrpgte
      961 ygigvsavke dkesnpatin aateldtpkd lqvsetaets ltllwktpla kfdryrlnys
     1021 lptgqwvgvq lprnttsyvl rglepgqeyn vlltaekgrh kskparvkas teqapelenl
     1081 tvtevgwdgl rlnwtaadqa yehfiiqvqe ankveaarnl tvpgslravd ipglkaatpy
     1141 tvsiygviqg yrtpvlsaea stgetpnlge vvvaevgwda lklnwtapeg ayeyffiqvq
     1201 eadtveaaqn ltvpgglrst dlpglkaath ytitirgvtq dfsttplsve vlteevpdmg
     1261 nltvtevswd alrlnwttpd gtydqftiqv qeadqveeah nltvpgslrs meipglragt
     1321 pytvtlhgev rghstrplav evvtedlpql gdlavsevgw dglrlnwtaa dnayehfviq
     1381 vqevnkveaa qnltlpgslr avdipgleaa tpyrvsiygv irgyrtpvls aeastakepe
     1441 ignlnvsdit pesfnlswma tdgifetfti eiidsnrlle tveynisgae rtahisglpp
     1501 stdfivylsg lapsirtkti satattamgs pkevifsdit ensatvswra ptaqvesfri
     1561 tyvpitggtp smvtvdgtkt qtrlvklipg veylvsiiam kgfeesepvs gsfttaldgp
     1621 sglvtanitd sealarwqpa iatvdsyvis ytgekvpeit rtvsgntvey altdlepate
     1681 ytlrifaekg pqksstitak fttdldsprd ltatevqset alltwrppra svtgyllvye
     1741 svdgtvkevi vgpdttsysl adlspsthyt akiqalngpl rsnmiqtift tigllypfpk
     1801 dcsqamlngd ttsglytiyl ngdkaealev fcdmtsdggg wivflrrkng renfyqnwka
     1861 yaagfgdrre efwlgldnln kitaqgqyel rvdlrdhget afavydkfsv gdaktryklk
     1921 vegysgtagd smayhngrsf stfdkdtdsa itncalsykg afwyrnchrv nlmgrygdnn
     1981 hsqgvnwfhw kghehsiqfa emklrpsnfr nlegrrkra
//
LOCUS       XP_054219461             753 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor RFX3 isoform X24 [Homo sapiens].
ACCESSION   XP_054219461
VERSION     XP_054219461.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363486.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..753
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..753
                     /product="transcription factor RFX3 isoform X24"
                     /calculated_mol_wt=83909
     CDS             1..753
                     /gene="RFX3"
                     /coded_by="XM_054363486.1:264..2525"
                     /db_xref="GeneID:5991"
                     /db_xref="HGNC:HGNC:9984"
                     /db_xref="MIM:601337"
ORIGIN      
        1 mqtsetgsdt gstvtlqtsv asqaavptqv vqqvpvqqqv qqvqtvqqvq hvypaqvqyv
       61 egsdtvytng airtttypyt etqmysqntg gnyfdtqgss aqvttvvssh smvgtggiqm
      121 gvtggqliss sggtyligns mensghsvth ttraspatlq wlldnyetae gvslprstly
      181 nhylrhcqeh kldpvnaasf gklirsifmg lrtrrlgtrg nskyhyygir vkpdsplnrl
      241 qedmqymamr qqpmqqkqry kpmqkvdgva dgftgsgqqt gtsveqtvia qsqhhqqfld
      301 asralpefge veisslpdgt tfedikslqs lyrehceail dvvvnlqfsl ieklwqtfwr
      361 yspstptdgt titessnlse iesrlpkakl itlckhesil kwmcncdhgm yqalveilip
      421 dvlrpipsal tqairnfaks legwlsnamn nipqrmiqtk vaavsafaqt lrrytslnhl
      481 aqaaravlqn tsqinqmlsd lnrvdfanvq eqaswvcqcd dnmvqrletd fkmtlqqqst
      541 leqwaawldn vmmqalkpye grpsfpkaar qfllkwsfys smvirdltlr saasfgsfhl
      601 irllydeymf ylvehrvaqa tgetpiavmg etnlvdeknt pimelfiskl lnfgdlnavs
      661 pgnldkvlvl fvcadegsev esemdeeldd ssepqakrek telsqafpvg cmqpvletgv
      721 qpsllnpihs ehivtstqti rqcsatgnty tav
//
LOCUS       XP_054182459             271 aa            linear   PRI 20-MAR-2023
DEFINITION  melanoma-associated antigen B16 isoform X1 [Homo sapiens].
ACCESSION   XP_054182459
VERSION     XP_054182459.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326484.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..271
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..271
                     /product="melanoma-associated antigen B16 isoform X1"
                     /calculated_mol_wt=29950
     CDS             1..271
                     /gene="MAGEB16"
                     /coded_by="XM_054326484.1:144..959"
                     /db_xref="GeneID:139604"
                     /db_xref="HGNC:HGNC:21188"
                     /db_xref="MIM:300762"
ORIGIN      
        1 msqdqesprc thdqhlqtfs etqslevaqv skalektfls sshplvpgkl keapaakaes
       61 plevpqsfcs ssiavtttss sesdeassnq eeedspssse dtsdprnvpa daldqkvafl
      121 vnfmlhkyqm kkpitkadml kiiikddesh fseillrase rlemifgldv vevdptthcy
      181 glfiklglty dgmlsgekgv pktglliivl gvifmkgnra teeevwevln ltgvysgkkh
      241 fifgepreli tkdfvkekyl eyqqvansdp a
//
LOCUS       XP_054182675             323 aa            linear   PRI 20-MAR-2023
DEFINITION  four and a half LIM domains protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054182675
VERSION     XP_054182675.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326700.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..323
                     /product="four and a half LIM domains protein 1 isoform
                     X2"
                     /calculated_mol_wt=36132
     CDS             1..323
                     /gene="FHL1"
                     /gene_synonym="FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; KYOT;
                     RBMX1A; RBMX1B; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA"
                     /coded_by="XM_054326700.1:127..1098"
                     /db_xref="GeneID:2273"
                     /db_xref="HGNC:HGNC:3702"
                     /db_xref="MIM:300163"
ORIGIN      
        1 maekfdchyc rdplqgkkyv qkdghhcclk cfdkfcantc vecrkpigad skevhyknrf
       61 whdtcfrcak clhplanetf vakdnkilcn kcttredspk ckgcfkaiva gdqnveykgt
      121 vwhkdcftcs nckqvigtgs ffpkgedfyc vtchetkfak hcvkcnkait sggityqdqp
      181 whadcfvcvt cskklagqrf tavedqyycv dcyknfvakk cagcknpitg krtvsrvshp
      241 vskarkppvc hgkrlpltlf psanlrgrhp ggertcpswv vvlyrknrsl aaprgpglvk
      301 apvwwpmkdn pgtttastak nap
//
LOCUS       XP_054182705             434 aa            linear   PRI 20-MAR-2023
DEFINITION  septin-6 isoform X5 [Homo sapiens].
ACCESSION   XP_054182705
VERSION     XP_054182705.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326730.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..434
                     /product="septin-6 isoform X5"
                     /calculated_mol_wt=49586
     CDS             1..434
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6"
                     /coded_by="XM_054326730.1:149..1453"
                     /db_xref="GeneID:23157"
                     /db_xref="HGNC:HGNC:15848"
                     /db_xref="MIM:300683"
ORIGIN      
        1 maatdiarqv gegcrtvpla ghvgfdslpd qlvnksvsqg fcfnilcvge tglgkstlmd
       61 tlfntkfege pathtqpgvq lqsntydlqe snvrlkltiv stvgfgdqin kedsykpive
      121 fidaqfeayl qeelkirrvl htyhdsrihv clyfiaptgh slksldlvtm kkldskvnii
      181 piiakadais kseltkfkik itselvsngv qiyqfptdde svaeingtmn ahlpfavigs
      241 teelkignkm mrarqypwgt vqveneahcd fvklremlir vnmedlreqt htrhyelyrr
      301 ckleemgfkd tdpdskpfsl qetyeakrne flgelqkkee emrqmfvqrv kekeaelkea
      361 ekelhekfdr lkklhqdekk kledkkksld devnafkqrk taaellqsqg sqaggsqtlk
      421 rdkekknnpw lcte
//
LOCUS       XP_054183987             869 aa            linear   PRI 20-MAR-2023
DEFINITION  centriole and centriolar satellite protein OFD1 isoform X11 [Homo
            sapiens].
ACCESSION   XP_054183987
VERSION     XP_054183987.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328012.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..869
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..869
                     /product="centriole and centriolar satellite protein OFD1
                     isoform X11"
                     /calculated_mol_wt=99290
     CDS             1..869
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /coded_by="XM_054328012.1:325..2934"
                     /db_xref="GeneID:8481"
                     /db_xref="HGNC:HGNC:2567"
                     /db_xref="MIM:300170"
ORIGIN      
        1 mmaqsnmftv advlsqdelr kklyqtfkdr gildtlktql rnqlihelmh pvlsgelqpr
       61 sisvegssll igasnslvad hlqrcgyeys lsvffpesgl akekvftmqd llqlikinpt
      121 sslykslvsg sdkenqkgfl mhflkelaey hqakescnme tqtsstfnrd slaeklqlid
      181 dqfadaypqr ikfesleikl neykreieeq lraemcqklk ffkdteiaki kmeakkkyek
      241 eltmfqndfe kacqakseal vlrekstler ihkhqeietk eiyaqrqlll kdmdllrgre
      301 aelkqrveaf elnqklqeek hksitealrr qeqniksfee tydrklknel lkyqlelkdd
      361 yiirtnrlie derknkekav hlqeeliain skkeelnqsv nrvkelelel esvkaqslai
      421 tkqnhmlnek vkemsdysll keeklellaq nkllkqqlee srnenlrlln rlaqpapela
      481 vfqkelrkae kaivveheef escrqalhkq lqdeiehsaq lkaqilgyka svkslttqva
      541 dlklqlkqtq talenevycn pkqsvidrsv nglingnvvp cngeisgdfl nnpfkqenvl
      601 armvasritn yptawvegss pdsdlefvan tkarvkelqq eaerlekafr syhrrvikns
      661 aksplaaksp pslhlleafk nitsssperh ifgedrvvse qpqvgtleer ndvvealtgs
      721 aasrlrggts srrlsstplp kakrslesem yleglgrshi aspspcpdrm plpsptesrh
      781 slsippvssp peqkvglyrr qtelqdksef sdvdklafkd neefessfes agnmprqlem
      841 gglspagdms hvdaaaaavp lsyqhpkdd
//
LOCUS       NP_001372725             477 aa            linear   PRI 23-MAR-2023
DEFINITION  zinc finger protein 384 isoform m [Homo sapiens].
ACCESSION   NP_001372725
VERSION     NP_001372725.1
DBSOURCE    REFSEQ: accession NM_001385796.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 477)
  AUTHORS   Chiaretti S, Taherinasab A, Della Starza I, Canichella M,
            Ansuinelli M, De Propris MS, Messina M, Spinelli O, Santoro A, De
            Novi LA, Cardinali D, Schipani M, Arena V, Bassan R, Guarini A and
            Foa R.
  TITLE     ZNF384 rearrangement is the most frequent genetic lesion in adult
            PH-negative and Ph-like-negative B-other acute lymphoblastic
            leukemia. Biological and clinical findings
  JOURNAL   Leuk Lymphoma 64 (2), 483-486 (2023)
   PUBMED   36533589
  REMARK    GeneRIF: ZNF384 rearrangement is the most frequent genetic lesion
            in adult PH-negative and Ph-like-negative B-other acute
            lymphoblastic leukemia. Biological and clinical findings.
REFERENCE   2  (residues 1 to 477)
  AUTHORS   Atkinson EG, Adaway M, Horan DJ, Korff C, Klunk A, Orr AL, Ratz K,
            Bellido T, Plotkin LI, Robling AG and Bidwell JP.
  TITLE     Conditional Loss of Nmp4 in Mesenchymal Stem Progenitor Cells
            Enhances PTH-Induced Bone Formation
  JOURNAL   J Bone Miner Res 38 (1), 70-85 (2023)
   PUBMED   36321253
  REMARK    GeneRIF: Conditional Loss of Nmp4 in Mesenchymal Stem Progenitor
            Cells Enhances PTH-Induced Bone Formation.
REFERENCE   3  (residues 1 to 477)
  AUTHORS   Sudutan T, Erbilgin Y, Hatirnaz Ng O, Karaman S, Karakas Z,
            Kucukcankurt F, Celkan T, Timur C, Ozdemir GN, Hacisalihoglu S,
            Gelen SA and Sayitoglu M.
  TITLE     Zinc finger protein 384 (ZNF384) impact on childhood mixed
            phenotype acute leukemia and B-cell precursor acute lymphoblastic
            leukemia
  JOURNAL   Leuk Lymphoma 63 (12), 2931-2939 (2022)
   PUBMED   35921545
  REMARK    GeneRIF: Zinc finger protein 384 (ZNF384) impact on childhood mixed
            phenotype acute leukemia and B-cell precursor acute lymphoblastic
            leukemia.
REFERENCE   4  (residues 1 to 477)
  AUTHORS   Zhao X, Wang P, Diedrich JD, Smart B, Reyes N, Yoshimura S, Zhang
            J, Yang W, Barnett K, Xu B, Li Z, Huang X, Yu J, Crews K, Yeoh AEJ,
            Konopleva M, Wei CL, Pui CH, Savic D and Yang JJ.
  TITLE     Epigenetic activation of the FLT3 gene by ZNF384 fusion confers a
            therapeutic susceptibility in acute lymphoblastic leukemia
  JOURNAL   Nat Commun 13 (1), 5401 (2022)
   PUBMED   36104354
  REMARK    GeneRIF: Epigenetic activation of the FLT3 gene by ZNF384 fusion
            confers a therapeutic susceptibility in acute lymphoblastic
            leukemia.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 477)
  AUTHORS   Zhong CH, Prima V, Liang X, Frye C, McGavran L, Meltesen L, Wei Q,
            Boomer T, Varella-Garcia M, Gump J and Hunger SP.
  TITLE     E2A-ZNF384 and NOL1-E2A fusion created by a cryptic t(12;19)(p13.3;
            p13.3) in acute leukemia
  JOURNAL   Leukemia 22 (4), 723-729 (2008)
   PUBMED   18185522
REFERENCE   6  (residues 1 to 477)
  AUTHORS   Janssen H and Marynen P.
  TITLE     Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator
            for p130CAS signaling?
  JOURNAL   Exp Cell Res 312 (7), 1194-1204 (2006)
   PUBMED   16510139
REFERENCE   7  (residues 1 to 477)
  AUTHORS   La Starza,R., Aventin,A., Crescenzi,B., Gorello,P., Specchia,G.,
            Cuneo,A., Angioni,A., Bilhou-Nabera,C., Boque,C., Foa,R.,
            Uyttebroeck,A., Talmant,P., Cimino,G., Martelli,M.F., Marynen,P.,
            Mecucci,C. and Hagemeijer,A.
  TITLE     CIZ gene rearrangements in acute leukemia: report of a diagnostic
            FISH assay and clinical features of nine patients
  JOURNAL   Leukemia 19 (9), 1696-1699 (2005)
   PUBMED   15990865
  REMARK    GeneRIF: The CIZ protein(also known as ZNF384)was involved and
            rearrangemented in acute leukemia.
REFERENCE   8  (residues 1 to 477)
  AUTHORS   Martini A, La Starza R, Janssen H, Bilhou-Nabera C, Corveleyn A,
            Somers R, Aventin A, Foa R, Hagemeijer A, Mecucci C and Marynen P.
  TITLE     Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its
            homologue, TAF15, with the transcription factor CIZ/NMP4 in acute
            leukemia
  JOURNAL   Cancer Res 62 (19), 5408-5412 (2002)
   PUBMED   12359745
  REMARK    GeneRIF: The transcription factor gene CIZ/NMP4 is recurrently
            involved in acute leukemia through fusion with either EWSR1 or
            TAF15.
REFERENCE   9  (residues 1 to 477)
  AUTHORS   Thunyakitpisal P, Alvarez M, Tokunaga K, Onyia JE, Hock J, Ohashi
            N, Feister H, Rhodes SJ and Bidwell JP.
  TITLE     Cloning and functional analysis of a family of nuclear matrix
            transcription factors (NP/NMP4) that regulate type I collagen
            expression in osteoblasts
  JOURNAL   J Bone Miner Res 16 (1), 10-23 (2001)
   PUBMED   11149472
REFERENCE   10 (residues 1 to 477)
  AUTHORS   Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel
            TS, Stine OC, Callahan C, McInnis MG and Ross CA.
  TITLE     cDNAs with long CAG trinucleotide repeats from human brain
  JOURNAL   Hum Genet 100 (1), 114-122 (1997)
   PUBMED   9225980
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC125494.2 and KF455592.1.
            
            Summary: This gene encodes a C2H2-type zinc finger protein, which
            may function as a transcription factor. This gene also contains
            long CAG trinucleotide repeats that encode consecutive glutamine
            residues. The protein appears to bind and regulate the promoters of
            the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies
            in mouse suggest that nuclear matrix transcription factors
            (NP/NMP4) may be part of a general mechanical pathway that couples
            cell construction and function during extracellular matrix
            remodeling. Alternative splicing results in multiple transcript
            variants. Recurrent rearrangements of this gene with the Ewing's
            sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on
            chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have
            been observed in acute leukemia. A related pseudogene has been
            identified on chromosome 7. [provided by RefSeq, Apr 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.47100.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..477
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     Protein         1..477
                     /product="zinc finger protein 384 isoform m"
                     /note="Cas-interacting zinc finger protein; nuclear matrix
                     transcription factor 4; expanded repeat domain, CAG/CTG 2;
                     CAG repeat protein 1; trinucleotide repeat-containing gene
                     1 protein"
                     /calculated_mol_wt=52268
     Region          <169..355
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          191..211
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          219..239
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(224,226,228,230..231,234..235,238,252,254,258..259,
                     262..263,266,282,284,286,288..289,292..293,296)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          247..267
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          275..297
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          305..325
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          335..355
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..477
                     /gene="ZNF384"
                     /gene_synonym="CAGH1; CAGH1A; CIZ; ERDA2; NMP4; NP; TNRC1"
                     /coded_by="NM_001385796.1:462..1895"
                     /note="isoform m is encoded by transcript variant 60"
                     /db_xref="GeneID:171017"
                     /db_xref="HGNC:HGNC:11955"
                     /db_xref="MIM:609951"
ORIGIN      
        1 meeshfnsnp yfwpsiptvs gqientmfin kmkdqllpek gcglapphyp tlltvpasvs
       61 lpsgismdte sksdqltphs qasvtqnitv vpvpstglmt agvscsqrwr regsqsralq
      121 vvpdlskkva stlteegggg gggggsvapk pprgrkkkrm lesglpemnd pyvlspeddd
      181 dhqkdgktyr crmcsltfys ksemqihsks htetkphkcp hcsktfanss ylaqhirihs
      241 gakpyscnfc eksfrqlshl qqhtrihtgd rpykcahpgc ekaftqlsnl qshrrqhnkd
      301 kpfkchnchr aytdaaslev hlsthtvkha kvytcticsr aytsetylmk hmrkhnppdl
      361 qqqvqaaaaa aavaqaqaqa qaqaqaqaqa qaqaqasqas qqqqqqqqqq qqqqqqppph
      421 fqspgaapqg ggggdsnpnp ppqcsfdltp yktaehhkdi cltvttstiq vehlass
//
LOCUS       NP_004682                351 aa            linear   PRI 24-MAR-2023
DEFINITION  V-type proton ATPase subunit d 1 [Homo sapiens].
ACCESSION   NP_004682
VERSION     NP_004682.2
DBSOURCE    REFSEQ: accession NM_004691.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 351)
  AUTHORS   Chen F, Zhu S, Kang R, Tang D and Liu J.
  TITLE     ATP6V0D1 promotes alkaliptosis by blocking STAT3-mediated lysosomal
            pH homeostasis
  JOURNAL   Cell Rep 42 (1), 111911 (2023)
   PUBMED   36640329
  REMARK    GeneRIF: ATP6V0D1 promotes alkaliptosis by blocking STAT3-mediated
            lysosomal pH homeostasis.
REFERENCE   2  (residues 1 to 351)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 351)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 351)
  AUTHORS   Jung YS, Jun S, Kim MJ, Lee SH, Suh HN, Lien EM, Jung HY, Lee S,
            Zhang J, Yang JI, Ji H, Wu JY, Wang W, Miller RK, Chen J, McCrea
            PD, Kopetz S and Park JI.
  TITLE     TMEM9 promotes intestinal tumorigenesis through
            vacuolar-ATPase-activated Wnt/beta-catenin signalling
  JOURNAL   Nat Cell Biol 20 (12), 1421-1433 (2018)
   PUBMED   30374053
REFERENCE   5  (residues 1 to 351)
  AUTHORS   Hashimoto Y, Shirane M and Nakayama KI.
  TITLE     TMEM55B contributes to lysosomal homeostasis and amino acid-induced
            mTORC1 activation
  JOURNAL   Genes Cells 23 (6), 418-434 (2018)
   PUBMED   29644770
REFERENCE   6  (residues 1 to 351)
  AUTHORS   Finbow ME and Harrison MA.
  TITLE     The vacuolar H+-ATPase: a universal proton pump of eukaryotes
  JOURNAL   Biochem J 324 (Pt 3) (Pt 3), 697-712 (1997)
   PUBMED   9210392
  REMARK    Review article
REFERENCE   7  (residues 1 to 351)
  AUTHORS   Stevens TH and Forgac M.
  TITLE     Structure, function and regulation of the vacuolar (H+)-ATPase
  JOURNAL   Annu Rev Cell Dev Biol 13, 779-808 (1997)
   PUBMED   9442887
  REMARK    Review article
REFERENCE   8  (residues 1 to 351)
  AUTHORS   van Hille B, Vanek M, Richener H, Green JR and Bilbe G.
  TITLE     Cloning and tissue distribution of subunits C, D, and E of the
            human vacuolar H(+)-ATPase
  JOURNAL   Biochem Biophys Res Commun 197 (1), 15-21 (1993)
   PUBMED   8250920
REFERENCE   9  (residues 1 to 351)
  AUTHORS   Wang SY, Moriyama Y, Mandel M, Hulmes JD, Pan YC, Danho W, Nelson H
            and Nelson N.
  TITLE     Cloning of cDNA encoding a 32-kDa protein. An accessory polypeptide
            of the H+-ATPase from chromaffin granules
  JOURNAL   J Biol Chem 263 (33), 17638-17642 (1988)
   PUBMED   2903164
REFERENCE   10 (residues 1 to 351)
  AUTHORS   Dautry-Varsat,A.
  TITLE     Receptor-mediated endocytosis: the intracellular journey of
            transferrin and its receptor
  JOURNAL   Biochimie 68 (3), 375-381 (1986)
   PUBMED   2874839
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC008861.2 and BM677562.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 3, 2002 this sequence version replaced NP_004682.1.
            
            Summary: This gene encodes a component of vacuolar ATPase
            (V-ATPase), a multisubunit enzyme that mediates acidification of
            eukaryotic intracellular organelles. V-ATPase dependent organelle
            acidification is necessary for such intracellular processes as
            protein sorting, zymogen activation, receptor-mediated endocytosis,
            and synaptic vesicle proton gradient generation. V-ATPase is
            composed of a cytosolic V1 domain and a transmembrane V0 domain.
            The V1 domain consists of three A and three B subunits, two G
            subunits plus the C, D, E, F, and H subunits. The V1 domain
            contains the ATP catalytic site. The V0 domain consists of five
            different subunits: a, c, c', c'', and d. Additional isoforms of
            many of the V1 and V0 subunit proteins are encoded by multiple
            genes or alternatively spliced transcript variants. This encoded
            protein is known as the D subunit and is found ubiquitously.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.175846.1,
                                           SRR3476690.332825.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000290949.8/ ENSP00000290949.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..351
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     Protein         1..351
                     /product="V-type proton ATPase subunit d 1"
                     /EC_number="7.1.2.2"
                     /note="ATPase, H+ transporting, lysosomal (vacuolar proton
                     pump), member D; V-ATPase AC39 subunit; H(+)-transporting
                     two-sector ATPase, subunit D; V-ATPase, subunit D;
                     V-ATPase 40 KDa accessory protein; ATPase, H+
                     transporting, lysosomal 38kDa, V0 subunit d1; V-ATPase
                     subunit d 1; 32 kDa accessory protein; vacuolar proton
                     pump subunit d 1"
                     /calculated_mol_wt=40198
     Region          16..344
                     /region_name="vATP-synt_AC39"
                     /note="ATP synthase (C/AC39) subunit; pfam01992"
                     /db_xref="CDD:426553"
     Site            270
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P51863; propagated from
                     UniProtKB/Swiss-Prot (P61421.1)"
     Site            283
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P51863; propagated from
                     UniProtKB/Swiss-Prot (P61421.1)"
     CDS             1..351
                     /gene="ATP6V0D1"
                     /gene_synonym="ATP6D; ATP6DV; P39; VATX; VMA6; VPATPD"
                     /coded_by="NM_004691.5:72..1127"
                     /db_xref="CCDS:CCDS10838.1"
                     /db_xref="GeneID:9114"
                     /db_xref="HGNC:HGNC:13724"
                     /db_xref="MIM:607028"
ORIGIN      
        1 msffpelyfn vdngyleglv rglkagvlsq adylnlvqce tledlklhlq stdygnflan
       61 easpltvsvi ddrlkekmvv efrhmrnhay eplasfldfi tysymidnvi llitgtlhqr
      121 siaelvpkch plgsfeqmea vniaqtpael ynailvdtpl aaffqdcise qdldemniei
      181 irntlykayl esfykfctll ggttadamcp ilefeadrra fiitinsfgt elskedrakl
      241 fphcgrlype glaqlaradd yeqvknvady ypeykllfeg agsnpgdktl edrffehevk
      301 lnklaflnqf hfgvfyafvk lkeqecrniv wiaeciaqrh rakidnyipi f
//
LOCUS       NP_001159735             278 aa            linear   PRI 26-MAR-2023
DEFINITION  translation initiation factor IF-3, mitochondrial [Homo sapiens].
ACCESSION   NP_001159735
VERSION     NP_001159735.1
DBSOURCE    REFSEQ: accession NM_001166263.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 278)
  AUTHORS   Huang M, Coral D, Ardalani H, Spegel P, Saadat A, Claussnitzer M,
            Mulder H, Franks PW and Kalamajski S.
  TITLE     Identification of a weight loss-associated causal eQTL in MTIF3 and
            the effects of MTIF3 deficiency on human adipocyte function
  JOURNAL   Elife 12, e84168 (2023)
   PUBMED   36876906
  REMARK    GeneRIF: Identification of a weight loss-associated causal eQTL in
            MTIF3 and the effects of MTIF3 deficiency on human adipocyte
            function.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 278)
  AUTHORS   Chicherin IV, Baleva MV, Levitskii SA, Dashinimaev EB,
            Krasheninnikov IA and Kamenski P.
  TITLE     Initiation Factor 3 is Dispensable For Mitochondrial Translation in
            Cultured Human Cells
  JOURNAL   Sci Rep 10 (1), 7110 (2020)
   PUBMED   32346061
  REMARK    GeneRIF: Initiation Factor 3 is Dispensable For Mitochondrial
            Translation in Cultured Human Cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 278)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 278)
  AUTHORS   Chicherin IV, Baleva MV, Levitskii SA, Dashinimaev EB and
            Krasheninnikov IA.
  TITLE     Mitochondrial Translation Initiation Factor 3: Structure,
            Functions, Interactions, and Implication in Human Health and
            Disease
  JOURNAL   Biochemistry (Mosc) 84 (10), 1143-1150 (2019)
   PUBMED   31694510
  REMARK    GeneRIF: This is dedicated to the mitochondrial translation
            initiation factor 3 (IF3mt), which plays a key role in the protein
            synthesis in mitochondria. Involvement of IF3mt in human health and
            disease is discussed.
            Review article
REFERENCE   5  (residues 1 to 278)
  AUTHORS   Rasmussen-Torvik LJ, Baldridge AS, Pacheco JA, Aufox SA, Kim KY,
            Silverstein JC, Denham EW, Hungness E, Smith ME and Greenland P.
  TITLE     rs4771122 Predicts Multiple Measures of Long-Term Weight Loss After
            Bariatric Surgery
  JOURNAL   Obes Surg 25 (11), 2225-2229 (2015)
   PUBMED   26337695
  REMARK    GeneRIF: single nucleotide polymorphisms rs4771122 of MTIF3 was the
            variant most significantly associated with long-term weight loss
            after surgery.
REFERENCE   6  (residues 1 to 278)
  AUTHORS   Abahuni N, Gispert S, Bauer P, Riess O, Kruger R, Becker T and
            Auburger G.
  TITLE     Mitochondrial translation initiation factor 3 gene polymorphism
            associated with Parkinson's disease
  JOURNAL   Neurosci Lett 414 (2), 126-129 (2007)
   PUBMED   17267121
  REMARK    GeneRIF: the c.798C>T polymorphism of the MTIF3 gene showed allelic
            association with Parkinson's disease
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 278)
  AUTHORS   Grasso DG, Christian BE, Spencer A and Spremulli LL.
  TITLE     Overexpression and purification of mammalian mitochondrial
            translational initiation factor 2 and initiation factor 3
  JOURNAL   Methods Enzymol 430, 59-78 (2007)
   PUBMED   17913635
REFERENCE   8  (residues 1 to 278)
  AUTHORS   Bhargava K and Spremulli LL.
  TITLE     Role of the N- and C-terminal extensions on the activity of
            mammalian mitochondrial translational initiation factor 3
  JOURNAL   Nucleic Acids Res 33 (22), 7011-7018 (2005)
   PUBMED   16340009
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 278)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   10 (residues 1 to 278)
  AUTHORS   Koc EC and Spremulli LL.
  TITLE     Identification of mammalian mitochondrial translational initiation
            factor 3 and examination of its role in initiation complex
            formation with natural mRNAs
  JOURNAL   J Biol Chem 277 (38), 35541-35549 (2002)
   PUBMED   12095986
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI460170.1, CN272769.1 and
            BM768315.1.
            
            Summary: This gene encodes a translation initiation factor that is
            involved in mitochondrial protein synthesis. Polymorphism in this
            gene is associated with the onset of Parkinson's disease. Alternate
            splicing results in multiple transcript variants. A pseudogene of
            this gene is found on chromosome 5. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2, 3, and 4 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2428125.1,
                                           SRR18074969.2606004.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..278
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.2"
     Protein         1..278
                     /product="translation initiation factor IF-3,
                     mitochondrial"
                     /note="IF-3(Mt)"
                     /calculated_mol_wt=31594
     Region          65..240
                     /region_name="InfC"
                     /note="Translation initiation factor IF-3 [Translation,
                     ribosomal structure and biogenesis]; COG0290"
                     /db_xref="CDD:223367"
     Region          78..146
                     /region_name="IF3_N"
                     /note="Translation initiation factor IF-3, N-terminal
                     domain; pfam05198"
                     /db_xref="CDD:428366"
     Region          249..278
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2K0.4)"
     CDS             1..278
                     /gene="MTIF3"
                     /gene_synonym="IF3mt"
                     /coded_by="NM_001166263.2:188..1024"
                     /db_xref="CCDS:CCDS9322.1"
                     /db_xref="GeneID:219402"
                     /db_xref="HGNC:HGNC:29788"
                     /db_xref="MIM:619554"
ORIGIN      
        1 maalflkrlt lqtvksensc ircfgkhilq ktapaqlspi asaprlsfli hakafstaed
       61 tqnegkktkk nktafsnvgr kisqrvihlf dekgndlgnm hranvirlmd erdlrlvqrn
      121 tstepaeyql mtglqilqer qrlremekan pktgptlrke lilssnigqh dldtktkqiq
      181 qwikkkhlvq itikkgknvd vsenemeeif hqilqtmpgi atfssrpqav qggkalmcvl
      241 rafskneeka yketqetqer dtlnkdhgnd kesnvlhq
//
LOCUS       NP_001393585             622 aa            linear   PRI 03-APR-2023
DEFINITION  DNA mismatch repair protein Msh2 isoform 25 [Homo sapiens].
ACCESSION   NP_001393585
VERSION     NP_001393585.1
DBSOURCE    REFSEQ: accession NM_001406656.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 622)
  AUTHORS   Hu XQ, Zhang BY and Hua T.
  TITLE     hMSH2 coordinated with the expression of E2F1 promotes platinum
            response in epithelial ovarian cancer
  JOURNAL   J Int Med Res 51 (3), 3000605231163780 (2023)
   PUBMED   36994850
  REMARK    GeneRIF: hMSH2 coordinated with the expression of E2F1 promotes
            platinum response in epithelial ovarian cancer.
REFERENCE   2  (residues 1 to 622)
  AUTHORS   Lu X, Ying Y, Zhang W, Li R and Zhang J.
  TITLE     High MutS homolog 2 expression predicts poor prognosis and is
            related to immune infiltration in endometrial carcinoma
  JOURNAL   Cell Biol Int 47 (1), 201-215 (2023)
   PUBMED   36208091
  REMARK    GeneRIF: High MutS homolog 2 expression predicts poor prognosis and
            is related to immune infiltration in endometrial carcinoma.
REFERENCE   3  (residues 1 to 622)
  AUTHORS   Boumehdi AL, Cherbal F, Khider F, Oukkal M, Mahfouf H, Zebboudj F
            and Maaoui M.
  TITLE     Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in
            64 Algerian Lynch syndrome families: The first nationwide study
  JOURNAL   Ann Hum Genet 86 (6), 328-352 (2022)
   PUBMED   36073783
  REMARK    GeneRIF: Germline variants screening of MLH1, MSH2, MSH6 and PMS2
            genes in 64 Algerian Lynch syndrome families: The first nationwide
            study.
REFERENCE   4  (residues 1 to 622)
  AUTHORS   Singh S, Singh N and Sharma S.
  TITLE     Genetic polymorphisms in the mismatch repair pathway (MMR) genes
            contribute to hematological and gastrointestinal toxicity in North
            Indian lung cancer patients treated with platinum-based
            chemotherapy
  JOURNAL   J Biochem Mol Toxicol 36 (11), e23183 (2022)
   PUBMED   35924411
  REMARK    GeneRIF: Genetic polymorphisms in the mismatch repair pathway (MMR)
            genes contribute to hematological and gastrointestinal toxicity in
            North Indian lung cancer patients treated with platinum-based
            chemotherapy.
REFERENCE   5  (residues 1 to 622)
  AUTHORS   Schamschula E, Kinzel M, Wernstedt A, Oberhuber K, Gottschling H,
            Schnaiter S, Friedrichs N, Merkelbach-Bruse S, Zschocke J, Gallon R
            and Wimmer K.
  TITLE     Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition
            Syndrome Provide Clues for the Interaction between Mismatch Repair
            and Polymerase delta Proofreading Deficiency in Tumorigenesis
  JOURNAL   Biomolecules 12 (10), 1350 (2022)
   PUBMED   36291559
  REMARK    GeneRIF: Teenage-Onset Colorectal Cancers in a Digenic Cancer
            Predisposition Syndrome Provide Clues for the Interaction between
            Mismatch Repair and Polymerase delta Proofreading Deficiency in
            Tumorigenesis.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 622)
  AUTHORS   Wilson TM, Ewel A, Duguid JR, Eble JN, Lescoe MK, Fishel R and
            Kelley MR.
  TITLE     Differential cellular expression of the human MSH2 repair enzyme in
            small and large intestine
  JOURNAL   Cancer Res 55 (22), 5146-5150 (1995)
   PUBMED   7585562
REFERENCE   7  (residues 1 to 622)
  AUTHORS   Wei Q, Xu X, Cheng L, Legerski RJ and Ali-Osman F.
  TITLE     Simultaneous amplification of four DNA repair genes and beta-actin
            in human lymphocytes by multiplex reverse transcriptase-PCR
  JOURNAL   Cancer Res 55 (21), 5025-5029 (1995)
   PUBMED   7585546
REFERENCE   8  (residues 1 to 622)
  AUTHORS   Drummond JT, Li GM, Longley MJ and Modrich P.
  TITLE     Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch
            repair to tumor cells
  JOURNAL   Science 268 (5219), 1909-1912 (1995)
   PUBMED   7604264
REFERENCE   9  (residues 1 to 622)
  AUTHORS   Idos,G. and Valle,L.
  TITLE     Lynch Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301390
REFERENCE   10 (residues 1 to 622)
  AUTHORS   Lynch,H.T., Schuelke,G.S., Kimberling,W.J., Albano,W.A.,
            Lynch,J.F., Biscone,K.A., Lipkin,M.L., Deschner,E.E., Mikol,Y.B.,
            Sandberg,A.A. et al.
  TITLE     Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and
            II). II. Biomarker studies
  JOURNAL   Cancer 56 (4), 939-951 (1985)
   PUBMED   4016686
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079775.6 and AC138655.1.
            
            Summary: This locus is frequently mutated in hereditary
            nonpolyposis colon cancer (HNPCC). When cloned, it was discovered
            to be a human homolog of the E. coli mismatch repair gene mutS,
            consistent with the characteristic alterations in microsatellite
            sequences (RER+ phenotype) found in HNPCC. Two transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Apr 2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.2781410.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..622
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21-p16.3"
     Protein         1..622
                     /product="DNA mismatch repair protein Msh2 isoform 25"
                     /note="mutS homolog 2, colon cancer, nonpolyposis type 1;
                     DNA mismatch repair protein Msh2 transcript; MutS-like 2"
                     /calculated_mol_wt=69856
     Region          <1..554
                     /region_name="MutS"
                     /note="DNA mismatch repair ATPase MutS [Replication,
                     recombination and repair]; COG0249"
                     /db_xref="CDD:223327"
     CDS             1..622
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /coded_by="NM_001406656.1:1032..2900"
                     /note="isoform 25 is encoded by transcript variant 28"
                     /db_xref="GeneID:4436"
                     /db_xref="HGNC:HGNC:7325"
                     /db_xref="MIM:609309"
ORIGIN      
        1 mkldiaavra lnlfqgsved ttgsqslaal lnkcktpqgq rlvnqwikqp lmdknrieer
       61 lnlveafved aelrqtlqed llrrfpdlnr lakkfqrqaa nlqdcyrlyq ginqlpnviq
      121 alekhegkhq klllavfvtp ltdlrsdfsk fqemiettld mdqvenhefl vkpsfdpnls
      181 elreimndle kkmqstlisa ardlgldpgk qikldssaqf gyyfrvtcke ekvlrnnknf
      241 stvdiqkngv kftnskltsl neeytknkte yeeaqdaivk eivnissgyv epmqtlndvl
      301 aqldavvsfa hvsngapvpy vrpailekgq griilkasrh acvevqdeia fipndvyfek
      361 dkqmfhiitg pnmggkstyi rqtgvivlma qigcfvpces aevsivdcil arvgagdsql
      421 kgvstfmaem letasilrsa tkdsliiide lgrgtstydg fglawaisey iatkigafcm
      481 fathfhelta lanqiptvnn lhvtalttee tltmlyqvkk gvcdqsfgih vaelanfpkh
      541 viecakqkal eleefqyige sqgydimepa akkcyleren lrvtepkdqc lilltwkrkl
      601 rggkrsacsr perqnqgsge ls
//
LOCUS       NP_076411                317 aa            linear   PRI 10-APR-2023
DEFINITION  taste receptor type 2 member 14 [Homo sapiens].
ACCESSION   NP_076411
VERSION     NP_076411.1
DBSOURCE    REFSEQ: accession NM_023922.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 317)
  AUTHORS   Woo JA, Castano M, Kee TR, Lee J, Koziol-White CJ, An SS, Kim D,
            Kang DE and Liggett SB.
  TITLE     A Par3/LIM Kinase/Cofilin Pathway Mediates Human Airway Smooth
            Muscle Relaxation by TAS2R14
  JOURNAL   Am J Respir Cell Mol Biol 68 (4), 417-429 (2023)
   PUBMED   36662576
  REMARK    GeneRIF: A Par3/LIM Kinase/Cofilin Pathway Mediates Human Airway
            Smooth Muscle Relaxation by TAS2R14.
REFERENCE   2  (residues 1 to 317)
  AUTHORS   Zhao W, Li D, Wang Y, Kan R, Ji H, Su L, Yu Z and Li J.
  TITLE     Identification and molecular docking of peptides from Mizuhopecten
            yessoensis myosin as human bitter taste receptor T2R14 blockers
  JOURNAL   Food Funct 12 (23), 11966-11973 (2021)
   PUBMED   34747964
  REMARK    GeneRIF: Identification and molecular docking of peptides from
            Mizuhopecten yessoensis myosin as human bitter taste receptor T2R14
            blockers.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 317)
  AUTHORS   Carey RM, Adappa ND, Palmer JN and Lee RJ.
  TITLE     Neuropeptide Y Reduces Nasal Epithelial T2R Bitter Taste
            Receptor-Stimulated Nitric Oxide Production
  JOURNAL   Nutrients 13 (10), 3392 (2021)
   PUBMED   34684394
  REMARK    GeneRIF: Neuropeptide Y Reduces Nasal Epithelial T2R Bitter Taste
            Receptor-Stimulated Nitric Oxide Production.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 317)
  AUTHORS   Medapati MR, Singh N, Bhagirath AY, Duan K, Triggs-Raine B, Batista
            EL Jr and Chelikani P.
  TITLE     Bitter taste receptor T2R14 detects quorum sensing molecules from
            cariogenic Streptococcus mutans and mediates innate immune
            responses in gingival epithelial cells
  JOURNAL   FASEB J 35 (3), e21375 (2021)
   PUBMED   33559200
  REMARK    GeneRIF: Bitter taste receptor T2R14 detects quorum sensing
            molecules from cariogenic Streptococcus mutans and mediates innate
            immune responses in gingival epithelial cells.
REFERENCE   5  (residues 1 to 317)
  AUTHORS   Kim D, Castano M, Lujan LK, Woo JA and Liggett SB.
  TITLE     The short third intracellular loop and cytoplasmic tail of bitter
            taste receptors provide functionally relevant GRK phosphorylation
            sites in TAS2R14
  JOURNAL   J Biol Chem 296, 100216 (2021)
   PUBMED   33465377
  REMARK    GeneRIF: The short third intracellular loop and cytoplasmic tail of
            bitter taste receptors provide functionally relevant GRK
            phosphorylation sites in TAS2R14.
REFERENCE   6  (residues 1 to 317)
  AUTHORS   Margolskee RF.
  TITLE     Molecular mechanisms of bitter and sweet taste transduction
  JOURNAL   J Biol Chem 277 (1), 1-4 (2002)
   PUBMED   11696554
  REMARK    Review article
REFERENCE   7  (residues 1 to 317)
  AUTHORS   Matsunami H, Montmayeur JP and Buck LB.
  TITLE     A family of candidate taste receptors in human and mouse
  JOURNAL   Nature 404 (6778), 601-604 (2000)
   PUBMED   10766242
REFERENCE   8  (residues 1 to 317)
  AUTHORS   Chandrashekar J, Mueller KL, Hoon MA, Adler E, Feng L, Guo W, Zuker
            CS and Ryba NJ.
  TITLE     T2Rs function as bitter taste receptors
  JOURNAL   Cell 100 (6), 703-711 (2000)
   PUBMED   10761935
REFERENCE   9  (residues 1 to 317)
  AUTHORS   Adler E, Hoon MA, Mueller KL, Chandrashekar J, Ryba NJ and Zuker
            CS.
  TITLE     A novel family of mammalian taste receptors
  JOURNAL   Cell 100 (6), 693-702 (2000)
   PUBMED   10761934
REFERENCE   10 (residues 1 to 317)
  AUTHORS   Kinnamon SC.
  TITLE     A plethora of taste receptors
  JOURNAL   Neuron 25 (3), 507-510 (2000)
   PUBMED   10774719
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006518.17.
            
            Summary: This gene product belongs to the family of candidate taste
            receptors that are members of the G-protein-coupled receptor
            superfamily. These proteins are specifically expressed in the taste
            receptor cells of the tongue and palate epithelia. They are
            organized in the genome in clusters and are genetically linked to
            loci that influence bitter perception in mice and humans. In
            functional expression studies, they respond to bitter tastants.
            This gene maps to the taste receptor gene cluster on chromosome
            12p13. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC069148.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000537503.2/
                                                ENSP00000441949.1
            RefSeq Select criteria           :: based on single protein-coding
                                                transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..317
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.2"
     Protein         1..317
                     /product="taste receptor type 2 member 14"
                     /note="taste receptor, family B, member 1; taste receptor,
                     type 2, member 14"
                     /calculated_mol_wt=36029
     Region          8..295
                     /region_name="7tm_TAS2R14-like"
                     /note="mammalian taste receptor 2, subtype 14, member of
                     the seven-transmembrane G protein-coupled receptor
                     superfamily; cd15019"
                     /db_xref="CDD:320147"
     Region          8..33
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320147"
     Site            8..28
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYV8.1)"
     Region          45..69
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320147"
     Site            56..76
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYV8.1)"
     Region          83..105
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320147"
     Site            88..108
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYV8.1)"
     Site            130..150
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYV8.1)"
     Region          132..148
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320147"
     Site            153
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (Q9NYV8.1)"
     Site            162
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NYV8.1)"
     Site            171
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NYV8.1)"
     Region          176..199
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320147"
     Site            185..205
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYV8.1)"
     Region          224..248
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320147"
     Site            233..253
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYV8.1)"
     Region          260..284
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320147"
     Site            262..282
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYV8.1)"
     CDS             1..317
                     /gene="TAS2R14"
                     /gene_synonym="T2R14; TRB1"
                     /coded_by="NM_023922.2:57..1010"
                     /db_xref="CCDS:CCDS8637.1"
                     /db_xref="GeneID:50840"
                     /db_xref="HGNC:HGNC:14920"
                     /db_xref="MIM:604790"
ORIGIN      
        1 mggviksift fvlivefiig nlgnsfialv ncidwvkgrk issvdrilta laisrislvw
       61 lifgswcvsv ffpalfatek mfrmltniwt vinhfsvwla tglgtfyflk ianfsnsifl
      121 ylkwrvkkvv lvlllvtsvf lflnialini hinasingyr rnktcssdss nftrfssliv
      181 ltstvfifip ftlslamfll lifsmwkhrk kmqhtvkisg dastkahrgv ksvitfflly
      241 aifslsffis vwtserleen liilsqvmgm aypschscvl ilgnkklrqa slsvllwlry
      301 mfkdgepsgh kefress
//
LOCUS       NP_001351111             777 aa            linear   PRI 17-APR-2023
DEFINITION  glucocorticoid receptor isoform alpha [Homo sapiens].
ACCESSION   NP_001351111 XP_016864887
VERSION     NP_001351111.1
DBSOURCE    REFSEQ: accession NM_001364182.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 777)
  AUTHORS   Wadji DL, Morina N, Martin-Soelch C and Wicky C.
  TITLE     Methylation of the glucocorticoid receptor gene (NR3C1) in dyads
            mother-child exposed to intimate partner violence in Cameroon:
            Association with anxiety symptoms
  JOURNAL   PLoS One 18 (4), e0273602 (2023)
   PUBMED   37023023
  REMARK    GeneRIF: Methylation of the glucocorticoid receptor gene (NR3C1) in
            dyads mother-child exposed to intimate partner violence in
            Cameroon: Association with anxiety symptoms.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 777)
  AUTHORS   Wang M, Li M, Liu Z, Jiang C, Lv H and Yang Q.
  TITLE     Hsa_circ_0128846 knockdown attenuates the progression of pancreatic
            cancer by targeting miR-1270/NR3C1 axis
  JOURNAL   Sci Rep 13 (1), 2792 (2023)
   PUBMED   36797317
  REMARK    GeneRIF: Hsa_circ_0128846 knockdown attenuates the progression of
            pancreatic cancer by targeting miR-1270/NR3C1 axis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 777)
  AUTHORS   Kachkovska V, Kovchun A, Kovchun V, Klisch I, Marchuk O, Dudchenko
            I and Prystupa L.
  TITLE     ER22/23EK AND TTH111I POLYMORPHISMS IN THE GLUCOCORTICOID RECEPTOR
            GENE IN PATIENTS WITH BRONCHIAL ASTHMA WITH REGARD TO THE AGE OF
            ONSET
  JOURNAL   Georgian Med News (334), 94-97 (2023)
   PUBMED   36864800
  REMARK    GeneRIF: ER22/23EK AND TTH111I POLYMORPHISMS IN THE GLUCOCORTICOID
            RECEPTOR GENE IN PATIENTS WITH BRONCHIAL ASTHMA WITH REGARD TO THE
            AGE OF ONSET.
REFERENCE   4  (residues 1 to 777)
  AUTHORS   Lu NZ, Collins JB, Grissom SF and Cidlowski JA.
  TITLE     Selective regulation of bone cell apoptosis by translational
            isoforms of the glucocorticoid receptor
  JOURNAL   Mol Cell Biol 27 (20), 7143-7160 (2007)
   PUBMED   17682054
  REMARK    GeneRIF: Results suggest that translational glucocorticoid receptor
            isoforms can elicit distinct glucocorticoid responses.
REFERENCE   5  (residues 1 to 777)
  AUTHORS   Lu NZ and Cidlowski JA.
  TITLE     Translational regulatory mechanisms generate N-terminal
            glucocorticoid receptor isoforms with unique transcriptional target
            genes
  JOURNAL   Mol Cell 18 (3), 331-342 (2005)
   PUBMED   15866175
  REMARK    GeneRIF: Results suggest that cell-type specific glucocorticoid
            receptor isoforms generate specificity in glucocorticoid control of
            transcription in different tissues.
REFERENCE   6  (residues 1 to 777)
  AUTHORS   de Lange P, Segeren CM, Koper JW, Wiemer E, Sonneveld P, Brinkmann
            AO, White A, Brogan IJ, de Jong FH and Lamberts SW.
  TITLE     Expression in hematological malignancies of a glucocorticoid
            receptor splice variant that augments glucocorticoid
            receptor-mediated effects in transfected cells
  JOURNAL   Cancer Res 61 (10), 3937-3941 (2001)
   PUBMED   11358809
REFERENCE   7  (residues 1 to 777)
  AUTHORS   Krett NL, Pillay S, Moalli PA, Greipp PR and Rosen ST.
  TITLE     A variant glucocorticoid receptor messenger RNA is expressed in
            multiple myeloma patients
  JOURNAL   Cancer Res 55 (13), 2727-2729 (1995)
   PUBMED   7796394
REFERENCE   8  (residues 1 to 777)
  AUTHORS   Subramaniam M, Colvard D, Keeting PE, Rasmussen K, Riggs BL and
            Spelsberg TC.
  TITLE     Glucocorticoid regulation of alkaline phosphatase, osteocalcin, and
            proto-oncogenes in normal human osteoblast-like cells
  JOURNAL   J Cell Biochem 50 (4), 411-424 (1992)
   PUBMED   1469072
REFERENCE   9  (residues 1 to 777)
  AUTHORS   Scherrer LC and Pratt WB.
  TITLE     Association of the transformed glucocorticoid receptor with a
            cytoskeletal protein complex
  JOURNAL   J Steroid Biochem Mol Biol 41 (3-8), 719-721 (1992)
   PUBMED   1562545
REFERENCE   10 (residues 1 to 777)
  AUTHORS   Plotkin,L.L., Labutin,A.L., Lebedev,L.V., Khanukov,L.A. and
            Zelikson,O.S.
  TITLE     [Balloon probe for the removal of emboli and thrombi]
  JOURNAL   Med Tekh (3), 42-43 (1975)
   PUBMED   1152650
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091925.3 and AC004782.1.
            On Dec 7, 2018 this sequence version replaced XP_016864887.1.
            
            Summary: This gene encodes glucocorticoid receptor, which can
            function both as a transcription factor that binds to
            glucocorticoid response elements in the promoters of glucocorticoid
            responsive genes to activate their transcription, and as a
            regulator of other transcription factors. This receptor is
            typically found in the cytoplasm, but upon ligand binding, is
            transported into the nucleus. It is involved in inflammatory
            responses, cellular proliferation, and differentiation in target
            tissues. Mutations in this gene are associated with generalized
            glucocorticoid resistance. Alternative splicing of this gene
            results in transcript variants encoding either the same or
            different isoforms. Additional isoforms resulting from the use of
            alternate in-frame translation initiation sites have also been
            described, and shown to be functional, displaying diverse
            cytoplasm-to-nucleus trafficking patterns and distinct
            transcriptional activities (PMID:15866175). [provided by RefSeq,
            Feb 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.192741.1,
                                           SRR18074969.181595.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..777
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     Protein         1..777
                     /product="glucocorticoid receptor isoform alpha"
                     /note="nuclear receptor subfamily 3, group C, member 1
                     (glucocorticoid receptor); nuclear receptor subfamily 3
                     group C member 1 variant hGR-B(54); nuclear receptor
                     subfamily 3 group C member 1 variant hGR-B(77); nuclear
                     receptor subfamily 3 group C member 1 variant hGR-B(93)"
                     /calculated_mol_wt=85529
     Region          1..420
                     /region_name="Modulating"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1)"
     Region          1..23
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P04150.1)"
     Site            8
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P04150.1)"
     Site            23
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P06537; propagated from
                     UniProtKB/Swiss-Prot (P04150.1)"
     Region          26..401
                     /region_name="GCR"
                     /note="Glucocorticoid receptor; pfam02155"
                     /db_xref="CDD:426625"
     Site            45
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P04150.1)"
     Region          98..115
                     /region_name="Required for high transcriptional activity
                     of isoform Alpha-C3.
                     /evidence=ECO:0000269|PubMed:23820903"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1)"
     Site            113
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P06537; propagated from
                     UniProtKB/Swiss-Prot (P04150.1)"
     Region          130..183
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1)"
     Site            134
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P04150.1)"
     Site            141
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P06537; propagated from
                     UniProtKB/Swiss-Prot (P04150.1)"
     Site            203
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12000743,
                     ECO:0000269|PubMed:18483179, ECO:0000269|PubMed:25847991,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04150.1)"
     Site            211
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12000743,
                     ECO:0000269|PubMed:18483179, ECO:0000269|PubMed:25847991;
                     propagated from UniProtKB/Swiss-Prot (P04150.1)"
     Site            226
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:18483179,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P04150.1)"
     Site            267
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P04150.1)"
     Region          394..415
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1)"
     Site            404
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by GSK3-beta.
                     /evidence=ECO:0000269|PubMed:18838540; propagated from
                     UniProtKB/Swiss-Prot (P04150.1)"
     Region          417..494
                     /region_name="NR_DBD_GR_PR"
                     /note="DNA-binding domain of glucocorticoid receptor (GR)
                     is composed of two C4-type zinc fingers; cd07172"
                     /db_xref="CDD:143546"
     Site            order(421,424,438,441,457,463,473,476)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143546"
     Site            order(431..433,439..440,442..443,446..447,455,470..471,
                     477)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143546"
     Site            order(456..458,460,463..464,468..469,472)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143546"
     Site            480
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:19141540; propagated from
                     UniProtKB/Swiss-Prot (P04150.1)"
     Region          485..777
                     /region_name="Interaction with CLOCK"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1)"
     Region          487..523
                     /region_name="Hinge"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1)"
     Site            492
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:19141540; propagated from
                     UniProtKB/Swiss-Prot (P04150.1)"
     Site            494
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:19141540; propagated from
                     UniProtKB/Swiss-Prot (P04150.1)"
     Site            495
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:19141540; propagated from
                     UniProtKB/Swiss-Prot (P04150.1)"
     Region          531..777
                     /region_name="NR_LBD_GR"
                     /note="Ligand binding domain of the glucocorticoid
                     receptor, a member of the nuclear receptor superfamily;
                     cd07076"
                     /db_xref="CDD:132761"
     Region          532..697
                     /region_name="Interaction with CRY1.
                     /evidence=ECO:0000269|PubMed:22170608"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1)"
     Site            order(545,547..551,614..615,625..626,628,630)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:132761"
     Site            order(560,563..564,567,570..571,600..601,604..605,608,611,
                     623,642,646,732,735,737)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:132761"
     Site            order(575,579,585,589..590,592..593,596..597,752,755..756,
                     758..759,763)
                     /site_type="other"
                     /note="coactivator recognition site [polypeptide binding]"
                     /db_xref="CDD:132761"
     CDS             1..777
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /coded_by="NM_001364182.1:696..3029"
                     /note="isoform alpha is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS4278.1"
                     /db_xref="GeneID:2908"
                     /db_xref="HGNC:HGNC:7978"
                     /db_xref="MIM:138040"
ORIGIN      
        1 mdskesltpg reenpssvla qergdvmdfy ktlrggatvk vsasspslav asqsdskqrr
       61 llvdfpkgsv snaqqpdlsk avslsmglym getetkvmgn dlgfpqqgqi slssgetdlk
      121 lleesianln rstsvpenpk ssastavsaa ptekefpkth sdvsseqqhl kgqtgtnggn
      181 vklyttdqst fdilqdlefs sgspgketne spwrsdllid encllsplag eddsfllegn
      241 snedckplil pdtkpkikdn gdlvlsspsn vtlpqvktek edfielctpg vikqeklgtv
      301 ycqasfpgan iignkmsais vhgvstsggq myhydmntas lsqqqdqkpi fnvippipvg
      361 senwnrcqgs gddnltslgt lnfpgrtvfs ngysspsmrp dvssppssss tattgpppkl
      421 clvcsdeasg chygvltcgs ckvffkrave gqhnylcagr ndciidkirr kncpacryrk
      481 clqagmnlea rktkkkikgi qqattgvsqe tsenpgnkti vpatlpqltp tlvsllevie
      541 pevlyagyds svpdstwrim ttlnmlggrq viaavkwaka ipgfrnlhld dqmtllqysw
      601 mflmafalgw rsyrqssanl lcfapdliin eqrmtlpcmy dqckhmlyvs selhrlqvsy
      661 eeylcmktll llssvpkdgl ksqelfdeir mtyikelgka ivkregnssq nwqrfyqltk
      721 lldsmhevve nllnycfqtf ldktmsiefp emlaeiitnq ipkysngnik kllfhqk
//
LOCUS       NP_000769                519 aa            linear   PRI 16-MAY-2021
DEFINITION  cytochrome P450 4A11 isoform 1 [Homo sapiens].
ACCESSION   NP_000769
VERSION     NP_000769.2
DBSOURCE    REFSEQ: accession NM_000778.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 519)
  AUTHORS   Huang Z, Jiang Y and Zhou Y.
  TITLE     The role of cytochrome P450 gene rs1126742 polymorphism and risk of
            hypertension: a systematic review and meta-analysis
  JOURNAL   Biosci Rep 40 (5) (2020)
   PUBMED   32373936
  REMARK    GeneRIF: The role of cytochrome P450 gene rs1126742 polymorphism
            and risk of hypertension: a systematic review and meta-analysis.
REFERENCE   2  (residues 1 to 519)
  AUTHORS   Jing C, Wang T, Ma R, Cao H, Wang Z, Liu S, Chen D, Zhang J, Wu Y,
            Zhang Y, Wu J and Feng J.
  TITLE     New genetic variations discovered in KRAS wild-type cetuximab
            resistant chinese colorectal cancer patients
  JOURNAL   Mol Carcinog 59 (5), 478-491 (2020)
   PUBMED   32141150
  REMARK    GeneRIF: Mutation in CYP4A11 gene is associated with cetuximab
            resistance in colorectal cancer.
REFERENCE   3  (residues 1 to 519)
  AUTHORS   Gao H, Cao Y, Xia H, Zhu X and Jin Y.
  TITLE     CYP4A11 is involved in the development of nonalcoholic fatty liver
            disease via ROSinduced lipid peroxidation and inflammation
  JOURNAL   Int J Mol Med 45 (4), 1121-1129 (2020)
   PUBMED   32124935
  REMARK    GeneRIF: CYP4A11 is involved in the development of nonalcoholic
            fatty liver disease via ROSinduced lipid peroxidation and
            inflammation.
REFERENCE   4  (residues 1 to 519)
  AUTHORS   Yu K, Zhang T and Li X.
  TITLE     Genetic role of CYP4A11 polymorphisms in the risk of developing
            cardiovascular and cerebrovascular diseases
  JOURNAL   Ann Hum Genet 82 (6), 370-381 (2018)
   PUBMED   30132788
  REMARK    GeneRIF: The rs1126742 T/C polymorphism of CYP4A11 is more likely
            to be a genetic risk factor for the hypertension cases in the
            Caucasian population. Moreover, whereas the AG genotype of CYP4A11
            rs9332978 may be associated with an increased risk of hypertension,
            the AA genotype of rs9333025 may be linked to a decreased risk of
            cardiovascular and cerebrovascular diseases. [meta-analysis]
REFERENCE   5  (residues 1 to 519)
  AUTHORS   Sirotina S, Ponomarenko I, Kharchenko A, Bykanova M, Bocharova A,
            Vagaytseva K, Stepanov V, Churnosov M, Solodilova M and Polonikov
            A.
  TITLE     A Novel Polymorphism in the Promoter of the CYP4A11 Gene Is
            Associated with Susceptibility to Coronary Artery Disease
  JOURNAL   Dis Markers 2018, 5812802 (2018)
   PUBMED   29484037
  REMARK    GeneRIF: Haplotype G-C-A of CYP4A11 was associated with increased
            risk of coronary artery disease.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 519)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert
            DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (residues 1 to 519)
  AUTHORS   Kawashima H, Kusunose E, Kikuta Y, Kinoshita H, Tanaka S, Yamamoto
            S, Kishimoto T and Kusunose M.
  TITLE     Purification and cDNA cloning of human liver CYP4A fatty acid
            omega-hydroxylase
  JOURNAL   J Biochem 116 (1), 74-80 (1994)
   PUBMED   7798189
REFERENCE   8  (residues 1 to 519)
  AUTHORS   Imaoka S, Ogawa H, Kimura S and Gonzalez FJ.
  TITLE     Complete cDNA sequence and cDNA-directed expression of CYP4A11, a
            fatty acid omega-hydroxylase expressed in human kidney
  JOURNAL   DNA Cell Biol 12 (10), 893-899 (1993)
   PUBMED   8274222
REFERENCE   9  (residues 1 to 519)
  AUTHORS   Palmer CN, Richardson TH, Griffin KJ, Hsu MH, Muerhoff AS, Clark JE
            and Johnson EF.
  TITLE     Characterization of a cDNA encoding a human kidney, cytochrome
            P-450 4A fatty acid omega-hydroxylase and the cognate enzyme
            expressed in Escherichia coli
  JOURNAL   Biochim Biophys Acta 1172 (1-2), 161-166 (1993)
   PUBMED   7679927
REFERENCE   10 (residues 1 to 519)
  AUTHORS   Kawashima H, Kusunose E, Kubota I, Maekawa M and Kusunose M.
  TITLE     Purification and NH2-terminal amino acid sequences of human and rat
            kidney fatty acid omega-hydroxylases
  JOURNAL   Biochim Biophys Acta 1123 (2), 156-162 (1992)
   PUBMED   1739747
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD014132.1, S67580.1, D26481.1
            and AL731892.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 31, 2007 this sequence version replaced NP_000769.1.
            
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum and
            hydroxylates medium-chain fatty acids such as laurate and
            myristate. Multiple transcript variants have been found for this
            gene. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.68480.1, L04751.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310638.9/ ENSP00000311095.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..519
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p33"
     Protein         1..519
                     /product="cytochrome P450 4A11 isoform 1"
                     /EC_number="1.14.14.1"
                     /EC_number="1.14.14.80"
                     /note="fatty acid omega-hydroxylase; P450HL-omega;
                     alkane-1 monooxygenase; lauric acid omega-hydroxylase;
                     cytochrome P450, subfamily IVA, polypeptide 11; cytochrome
                     P450 4A11; 20-HETE synthase; cytochrome P450HL-omega;
                     cytochrome P-450HK-omega; 20-hydroxyeicosatetraenoic acid
                     synthase; long-chain fatty acid omega-monooxygenase;
                     cytochrome P450, family 4, subfamily A, polypeptide 11"
                     /calculated_mol_wt=59217
     Region          74..505
                     /region_name="CYP4B-like"
                     /note="cytochrome P450 family 4, subfamily B and similar
                     cytochrome P450s, including subfamilies A, T, X, and Z;
                     cd20678"
                     /db_xref="CDD:410771"
     Site            order(115,120,131..132,139,143,150,318,321..322,325,
                     385..386,389,449..451,455..459,462..463,467)
                     /site_type="other"
                     /note="heme binding site [chemical binding]"
                     /db_xref="CDD:410771"
     Site            order(132,320..321,325,386,388,390,495)
                     /site_type="other"
                     /note="chemical substrate binding pocket [chemical
                     binding]"
                     /db_xref="CDD:410771"
     CDS             1..519
                     /gene="CYP4A11"
                     /gene_synonym="CP4Y; CYP4A2; CYP4AII; CYPIVA11"
                     /coded_by="NM_000778.4:44..1603"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS543.1"
                     /db_xref="GeneID:1579"
                     /db_xref="HGNC:HGNC:2642"
                     /db_xref="MIM:601310"
ORIGIN      
        1 msvsvlspsr llgdvsgilq aasllillll likavqlylh rqwllkalqq fpcppshwlf
       61 ghiqelqqdq elqriqkwve tfpsacphwl wggkvrvqly dpdymkvilg rsdpkshgsy
      121 rflapwigyg llllngqtwf qhrrmltpaf hydilkpyvg lmadsvrvml dkweellgqd
      181 splevfqhvs lmtldtimkc afshqgsiqv drnsqsyiqa isdlnnlvfs rvrnafhqnd
      241 tiysltsagr wthracqlah qhtdqviqlr kaqlqkegel ekikrkrhld fldilllakm
      301 engsilsdkd lraevdtfmf eghdttasgi swilyalath pkhqercree ihsllgdgas
      361 itwnhldqmp yttmcikeal rlyppvpgig relstpvtfp dgrslpkgim vllsiyglhh
      421 npkvwpnpev fdpfrfapgs aqhshaflpf sggsrncigk qfamnelkva taltllrfel
      481 lpdptripip iarlvlkskn gihlrlrrlp npcedkdql
//
LOCUS       NP_569157                295 aa            linear   PRI 17-DEC-2022
DEFINITION  max-interacting protein 1 isoform b [Homo sapiens].
ACCESSION   NP_569157
VERSION     NP_569157.2
DBSOURCE    REFSEQ: accession NM_130439.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 295)
  AUTHORS   Lei Y, Huang Y, Lin J, Sun S, Che K, Shen J, Liao J, Chen Y, Chen
            K, Lin Z and Lin X.
  TITLE     Mxi1 participates in the progression of lung cancer via the
            microRNA-300/KLF9/GADD34 Axis
  JOURNAL   Cell Death Dis 13 (5), 425 (2022)
   PUBMED   35501353
  REMARK    GeneRIF: Mxi1 participates in the progression of lung cancer via
            the microRNA-300/KLF9/GADD34 Axis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 295)
  AUTHORS   Huang Y, Yang X, Lu Y, Zhao Y, Meng R, Zhang S, Dong X, Xu S and Wu
            G.
  TITLE     UBE2O targets Mxi1 for ubiquitination and degradation to promote
            lung cancer progression and radioresistance
  JOURNAL   Cell Death Differ 28 (2), 671-684 (2021)
   PUBMED   32901121
  REMARK    GeneRIF: UBE2O targets Mxi1 for ubiquitination and degradation to
            promote lung cancer progression and radioresistance.
REFERENCE   3  (residues 1 to 295)
  AUTHORS   Hu Z, Wang F, Wu Z, Gu H, Dong N, Jiang X, Xu J, Wu Z, Wechsler DS
            and Zheng D.
  TITLE     FOXO3a-dependent up-regulation of Mxi1-0 promotes hypoxia-induced
            apoptosis in endothelial cells
  JOURNAL   Cell Signal 51, 233-242 (2018)
   PUBMED   30118760
  REMARK    GeneRIF: HIF-1alpha-induced FOXO3a promotes apoptosis of hypoxic
            endothelial cells by directly inducing Mxi1- 0, which leads to the
            activation of caspase-8 apoptotic pathway.
REFERENCE   4  (residues 1 to 295)
  AUTHORS   Huang Y, Hu K, Zhang S, Dong X, Yin Z, Meng R, Zhao Y, Dai X, Zhang
            T, Yang K, Liu L, Huang K, Shi S, Zhang Y, Chen J, Wu G and Xu S.
  TITLE     S6K1 phosphorylation-dependent degradation of Mxi1 by beta-Trcp
            ubiquitin ligase promotes Myc activation and radioresistance in
            lung cancer
  JOURNAL   Theranostics 8 (5), 1286-1300 (2018)
   PUBMED   29507620
  REMARK    GeneRIF: a phosphorylation mutant form of Mxi1 (Mxi1-S160A), which
            cannot be degraded by S6K1 and beta-Trcp, is much more stable and
            efficient in suppressing the transcriptional activity of Myc and
            radioresistance in lung cancer cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 295)
  AUTHORS   Wu W, Hu Z, Wang F, Gu H, Jiang X, Xu J, Zhan X, Zheng D and Zhang
            Z.
  TITLE     Mxi1-0 regulates the growth of human umbilical vein endothelial
            cells through extracellular signal-regulated kinase 1/2 (ERK1/2)
            and interleukin-8 (IL-8)-dependent pathways
  JOURNAL   PLoS One 12 (6), e0178831 (2017)
   PUBMED   28575053
  REMARK    GeneRIF: results suggest that Mxi1-0 regulates the growth of HUVECs
            via the IL-8 and ERK1/2 pathways, which apparently reciprocally
            activate each other
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 295)
  AUTHORS   Albarosa R, DiDonato S and Finocchiaro G.
  TITLE     Redefinition of the coding sequence of the MXI1 gene and
            identification of a polymorphic repeat in the 3' non-coding region
            that allows the detection of loss of heterozygosity of chromosome
            10q25 in glioblastomas
  JOURNAL   Hum Genet 95 (6), 709-711 (1995)
   PUBMED   7789959
REFERENCE   7  (residues 1 to 295)
  AUTHORS   Zervos,A.S., Gyuris,J. and Brent,R.
  TITLE     Mxi1, a protein that specifically interacts with Max to bind
            Myc-Max recognition sites
  JOURNAL   Cell 79 (2), following388 (1994)
   PUBMED   7954804
  REMARK    Correction to:[Cell. 1993 Jan 29;72(2):223-32. PMID: 8425219]
REFERENCE   8  (residues 1 to 295)
  AUTHORS   Wechsler DS, Hawkins AL, Li X, Jabs EW, Griffin CA and Dang CV.
  TITLE     Localization of the human Mxi1 transcription factor gene (MXI1) to
            chromosome 10q24-q25
  JOURNAL   Genomics 21 (3), 669-672 (1994)
   PUBMED   7959753
REFERENCE   9  (residues 1 to 295)
  AUTHORS   Edelhoff S, Ayer DE, Zervos AS, Steingrimsson E, Jenkins NA,
            Copeland NG, Eisenman RN, Brent R and Disteche CM.
  TITLE     Mapping of two genes encoding members of a distinct subfamily of
            MAX interacting proteins: MAD to human chromosome 2 and mouse
            chromosome 6, and MXI1 to human chromosome 10 and mouse chromosome
            19
  JOURNAL   Oncogene 9 (2), 665-668 (1994)
   PUBMED   8290278
REFERENCE   10 (residues 1 to 295)
  AUTHORS   Zervos AS, Gyuris J and Brent R.
  TITLE     Mxi1, a protein that specifically interacts with Max to bind
            Myc-Max recognition sites
  JOURNAL   Cell 72 (2), 223-232 (1993)
   PUBMED   8425219
  REMARK    Erratum:[Cell. 1994 Oct 21;79(2):following 388. PMID: 7954804]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC035128.1, BQ924073.1,
            BC016678.1, AA854855.1, BM668806.1 and AW291670.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 27, 2004 this sequence version replaced NP_569157.1.
            
            Summary: Expression of the c-myc gene, which produces an oncogenic
            transcription factor, is tightly regulated in normal cells but is
            frequently deregulated in human cancers. The protein encoded by
            this gene is a transcriptional repressor thought to negatively
            regulate MYC function, and is therefore a potential tumor
            suppressor. This protein inhibits the transcriptional activity of
            MYC by competing for MAX, another basic helix-loop-helix protein
            that binds to MYC and is required for its function. Defects in this
            gene are frequently found in patients with prostate tumors. Three
            alternatively spliced transcripts encoding different isoforms have
            been described. Additional alternatively spliced transcripts may
            exist but the products of these transcripts have not been verified
            experimentally. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2), also referred to as SRalpha,
            differs in the 5' UTR and coding region, compared to variant 1. The
            resulting protein (isoform b) is longer and has a distinct
            N-terminus, compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.36057.1,
                                           SRR1660805.184233.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332674.9/ ENSP00000331152.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..295
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.2"
     Protein         1..295
                     /product="max-interacting protein 1 isoform b"
                     /note="MAX dimerization protein 2; MAX-interacting protein
                     1; Max-related transcription factor; class C basic
                     helix-loop-helix protein 11"
                     /calculated_mol_wt=32689
     Region          135..214
                     /region_name="bHLHzip_MXI1"
                     /note="basic Helix-Loop-Helix-zipper (bHLHzip) domain
                     found in Max-interacting protein 1 (MXI1) and similar
                     proteins; cd18930"
                     /db_xref="CDD:381500"
     Site            order(139..140,143..144,146..147,151,170..172)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381500"
     Site            order(150..151,153..158,160..161,173,176,180,182..184,
                     186..187,189..190,193,197,200..201,203..204,207..208,
                     210..211)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381500"
     Site            order(150,153..154,156..157,160..161,173,176,180,182..184,
                     186..187,189..190,193,197,200..201,203..204,207..208,
                     210..211)
                     /site_type="other"
                     /note="putative tetramer interface [polypeptide binding]"
                     /db_xref="CDD:381500"
     CDS             1..295
                     /gene="MXI1"
                     /gene_synonym="bHLHc11; MAD2; MXD2; MXI"
                     /coded_by="NM_130439.3:205..1092"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS7563.1"
                     /db_xref="GeneID:4601"
                     /db_xref="HGNC:HGNC:7534"
                     /db_xref="MIM:600020"
ORIGIN      
        1 mgkrgrprke arcegaglap aappavppav aapqppalpe dpagakprcp fsdifntsen
       61 smekhintfl qnvqilleaa syleqieken kkcehgyass fpsmpsprlq hskpprrlsr
      121 aqkhssgssn tstanrsthn eleknrrahl rlclerlkvl iplgpdctrh ttlgllnkak
      181 ahikkleeae rksqhqlenl ereqrflkwr leqlqgpqem erirmdsigs tissdrsdse
      241 reeievdves tefshgevdn isttsisdid dhsslpsigs degyssasvk lsfts
//
LOCUS       NP_001077432             561 aa            linear   PRI 19-DEC-2022
DEFINITION  tudor and KH domain-containing protein isoform a [Homo sapiens].
ACCESSION   NP_001077432
VERSION     NP_001077432.1
DBSOURCE    REFSEQ: accession NM_001083963.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 561)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 561)
  AUTHORS   Miura S, Kosaka K, Nomura T, Nagata S, Shimojo T, Morikawa T,
            Fujioka R, Harada M, Taniwaki T and Shibata H.
  TITLE     TDRKH is a candidate gene for an autosomal dominant distal
            hereditary motor neuropathy
  JOURNAL   Eur J Med Genet 62 (12), 103594 (2019)
   PUBMED   30503856
  REMARK    GeneRIF: TDRKH missense mutation segregates with dominant distal
            hereditary motor neuropathy in a four generation pedigree.
REFERENCE   3  (residues 1 to 561)
  AUTHORS   Zhang H, Liu K, Izumi N, Huang H, Ding D, Ni Z, Sidhu SS, Chen C,
            Tomari Y and Min J.
  TITLE     Structural basis for arginine methylation-independent recognition
            of PIWIL1 by TDRD2
  JOURNAL   Proc Natl Acad Sci U S A 114 (47), 12483-12488 (2017)
   PUBMED   29118143
  REMARK    GeneRIF: Unlike most other Tudor domains TDRD2 preferentially
            recognizes an unmethylated arginine-rich sequence from PIWIL1.
REFERENCE   4  (residues 1 to 561)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 561)
  AUTHORS   Cote J and Richard S.
  TITLE     Tudor domains bind symmetrical dimethylated arginines
  JOURNAL   J Biol Chem 280 (31), 28476-28483 (2005)
   PUBMED   15955813
  REMARK    GeneRIF: Tudor domain proteins interact with arginine-glycine-rich
            motifs in a methylarginine-dependent manner.
REFERENCE   6  (residues 1 to 561)
  AUTHORS   Lamb FS, Barna TJ, Goud C, Marenholz I, Mischke D and Schutte BC.
  TITLE     Complex RNA processing of TDRKH, a novel gene encoding the putative
            RNA-binding tudor and KH domains
  JOURNAL   Gene 246 (1-2), 209-218 (2000)
   PUBMED   10767542
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA796638.1, AK226092.1 and BC022467.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, and 3 all encode isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.248795.1,
                                           SRR1803611.37896.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..561
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..561
                     /product="tudor and KH domain-containing protein isoform
                     a"
                     /note="putative RNA binding protein; tudor domain
                     containing 2; tudor and KH domain-containing protein;
                     tudor domain-containing protein 2"
                     /calculated_mol_wt=61915
     Region          49..119
                     /region_name="KH-I_TDRKH_rpt1"
                     /note="first type I K homology (KH) RNA-binding domain
                     found in tudor and KH domain-containing protein (TDRKH)
                     and similar proteins; cd22428"
                     /db_xref="CDD:411856"
     Site            order(62,64..66,68..72,75..76,79..80,85..88)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:411856"
     Region          124..205
                     /region_name="KH-I_TDRKH_rpt2"
                     /note="second type I K homology (KH) RNA-binding domain
                     found in tudor and KH domain-containing protein (TDRKH)
                     and similar proteins; cd22429"
                     /db_xref="CDD:411857"
     Site            order(134,136..138,140..144,147..148,151..152,157..160)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:411857"
     Region          219..262
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2W6.2)"
     Site            278
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2W6.2)"
     Region          328..420
                     /region_name="Tudor_TDRD2"
                     /note="Tudor domain found in Tudor domain-containing
                     protein 2 (TDRD2) and similar proteins; cd20412"
                     /db_xref="CDD:410483"
     Site            order(364,371,388,391,393)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410483"
     CDS             1..561
                     /gene="TDRKH"
                     /gene_synonym="TDRD2"
                     /coded_by="NM_001083963.1:158..1843"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS41394.1"
                     /db_xref="GeneID:11022"
                     /db_xref="HGNC:HGNC:11713"
                     /db_xref="MIM:609501"
ORIGIN      
        1 mstertswts lstiqkialg lgipasatva yilyrryres reerltfvge ddieiemrvp
       61 qeavkliigr qganikqlrk qtgaridvdt edvgdervll isgfpvqvck akaaihqilt
      121 entpvseqls vpqrsvgrii grggetirsi ckasgakitc dkesegtlll srlikisgtq
      181 kevaaakhli lekvsedeel rkriahsaet rvprkqpisv rredmtepgg agepalwknt
      241 sssmeptapl vtpppkgggd mavvvskegs wekpsddsfq kseaqaipem pmfeipspdf
      301 sfhadeylev yvsasehpnh fwiqivgsrs lqldklvnem tqhyensvpe dltvhvgdiv
      361 aaplptngsw yrarvlgtle ngnldlyfvd fgdngdcplk dlralrsdfl slpfqaiecs
      421 lariapsgdq weeealdefd rlthcadwkp lvakissyvq tgistwpkiy lydtsngkkl
      481 diglelvhkg yaielpedie enravpdmlk dmatetdasl stlltetkks sgeithtlsc
      541 lslseaasms gddnleddyl l
//
LOCUS       NP_001243893             411 aa            linear   PRI 24-DEC-2022
DEFINITION  mitochondrial potassium channel isoform 1 [Homo sapiens].
ACCESSION   NP_001243893
VERSION     NP_001243893.1
DBSOURCE    REFSEQ: accession NM_001256964.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 411)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 411)
  AUTHORS   Paggio A, Checchetto V, Campo A, Menabo R, Di Marco G, Di Lisa F,
            Szabo I, Rizzuto R and De Stefani D.
  TITLE     Identification of an ATP-sensitive potassium channel in
            mitochondria
  JOURNAL   Nature 572 (7771), 609-613 (2019)
   PUBMED   31435016
REFERENCE   3  (residues 1 to 411)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC134772.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1 and 2
            encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.356057.1,
                                           SRR3476690.900146.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000395694.7/ ENSP00000379047.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..411
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..411
                     /product="mitochondrial potassium channel isoform 1"
                     /note="coiled-coil domain-containing protein 51;
                     mitochondrial potassium channel"
                     /calculated_mol_wt=41892
     transit_peptide 1..35
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (Q96ER9.2)"
                     /calculated_mol_wt=3938
     Site            70
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96ER9.2)"
     Region          112..>201
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     Site            202..222
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96ER9.2)"
     Region          274..294
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96ER9.2)"
     Site            387..407
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96ER9.2)"
     CDS             1..411
                     /gene="CCDC51"
                     /gene_synonym="MITOK"
                     /coded_by="NM_001256964.2:141..1376"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2766.2"
                     /db_xref="GeneID:79714"
                     /db_xref="HGNC:HGNC:25714"
                     /db_xref="MIM:618585"
ORIGIN      
        1 mmgrspgfam qhivgvphvl vrrgllgrdl fmtrtlcspg psqpgekrpe evalglhhrl
       61 palgralghs iqqratstak twwdryeefv glnevreaqg kvteaekvfm varglvrear
      121 edlevhqakl kevrdrldrv sredsqylel atlehrmlqe ekrlrtaylr aedserekfs
      181 lfsaavresh ekertraert knwsligsvl galigvagst yvnrvrlqel kallleaqkg
      241 pvslqeaire qassysrqqr dlhnlmvdlr glvhaagpgq dsgsqagspp trdrdvdvls
      301 aalkeqlshs rqvhsclegl reqldglekt csqmagvvql vksaahpglv epadgampsf
      361 lleqgsmila lsdteqrlea qvnrntiyst lvtcvtfvat lpvlymlfka s
//
LOCUS       NP_115954                206 aa            linear   PRI 25-DEC-2022
DEFINITION  emopamil-binding protein-like isoform 1 [Homo sapiens].
ACCESSION   NP_115954
VERSION     NP_115954.1
DBSOURCE    REFSEQ: accession NM_032565.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 206)
  AUTHORS   Ma J, Dempsey AA, Stamatiou D, Marshall KW and Liew CC.
  TITLE     Identifying leukocyte gene expression patterns associated with
            plasma lipid levels in human subjects
  JOURNAL   Atherosclerosis 191 (1), 63-72 (2007)
   PUBMED   16806233
REFERENCE   2  (residues 1 to 206)
  AUTHORS   Choy KW, Wang CC, Ogura A, Lau TK, Rogers MS, Ikeo K, Gojobori T,
            Lam DS and Pang CP.
  TITLE     Genomic annotation of 15,809 ESTs identified from pooled early
            gestation human eyes
  JOURNAL   Physiol Genomics 25 (1), 9-15 (2006)
   PUBMED   16368877
REFERENCE   3  (residues 1 to 206)
  AUTHORS   Moebius FF, Fitzky BU, Wietzorrek G, Haidekker A, Eder A and
            Glossmann H.
  TITLE     Cloning of an emopamil-binding protein (EBP)-like protein that
            lacks sterol delta8-delta7 isomerase activity
  JOURNAL   Biochem J 374 (Pt 1), 229-237 (2003)
   PUBMED   12760743
  REMARK    GeneRIF: encoded by four exons on human chromosome 13q14.2 covering
            30.7 kb, and a partially processed EBPL pseudogene was found on
            16q21; expressed ubiquitously and most abundant in liver, lung and
            kidney
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL135901.23 and AF243433.1.
            
            Transcript Variant: This variant (1) encodes the longer isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC092471.1, SRR1163658.570485.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000242827.11/ ENSP00000242827.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..206
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.2"
     Protein         1..206
                     /product="emopamil-binding protein-like isoform 1"
                     /note="emopamil binding related protein, delta8-delta7
                     sterol isomerase related protein; emopamil-binding-related
                     protein; emopamil binding protein like"
                     /calculated_mol_wt=23073
     Site            10..30
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BY08.1)"
     Site            42..62
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BY08.1)"
     Region          76..187
                     /region_name="EBP"
                     /note="Emopamil binding protein; pfam05241"
                     /db_xref="CDD:428389"
     Site            101..121
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BY08.1)"
     Site            165..185
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BY08.1)"
     CDS             1..206
                     /gene="EBPL"
                     /gene_synonym="EBRP"
                     /coded_by="NM_032565.5:63..683"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9420.1"
                     /db_xref="GeneID:84650"
                     /db_xref="HGNC:HGNC:18061"
                     /db_xref="MIM:617335"
ORIGIN      
        1 mgaewelgae aggslllcaa llaagcalgl rlgrgqgaad rgaliwlcyd alvhfalegp
       61 fvylslvgnv ansdgliasl wkeygkadar wvyfdptivs veiltvaldg slalfliyai
      121 vkekyyrhfl qitlcvcely gcwmtflpew ltrspnlnts nwlycwlylf ffngvwvlip
      181 glllwqswle lkkmhqkets svkkfq
//
LOCUS       NP_055410                201 aa            linear   PRI 25-DEC-2022
DEFINITION  5'(3')-deoxyribonucleotidase, cytosolic type isoform 1 [Homo
            sapiens].
ACCESSION   NP_055410
VERSION     NP_055410.1
DBSOURCE    REFSEQ: accession NM_014595.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 201)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 201)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 201)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 201)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   5  (residues 1 to 201)
  AUTHORS   Galmarini,C.M., Cros,E., Graham,K., Thomas,X., Mackey,J.R. and
            Dumontet,C.
  TITLE     5'-(3')-nucleotidase mRNA levels in blast cells are a prognostic
            factor in acute myeloid leukemia patients treated with cytarabine
  JOURNAL   Haematologica 89 (5), 617-619 (2004)
   PUBMED   15136231
REFERENCE   6  (residues 1 to 201)
  AUTHORS   Rampazzo C, Gallinaro L, Milanesi E, Frigimelica E, Reichard P and
            Bianchi V.
  TITLE     A deoxyribonucleotidase in mitochondria: involvement in regulation
            of dNTP pools and possible link to genetic disease
  JOURNAL   Proc Natl Acad Sci U S A 97 (15), 8239-8244 (2000)
   PUBMED   10899995
REFERENCE   7  (residues 1 to 201)
  AUTHORS   Rampazzo C, Johansson M, Gallinaro L, Ferraro P, Hellman U,
            Karlsson A, Reichard P and Bianchi V.
  TITLE     Mammalian 5'(3')-deoxyribonucleotidase, cDNA cloning, and
            overexpression of the enzyme in Escherichia coli and mammalian
            cells
  JOURNAL   J Biol Chem 275 (8), 5409-5415 (2000)
   PUBMED   10681516
REFERENCE   8  (residues 1 to 201)
  AUTHORS   Hoglund L and Reichard P.
  TITLE     Cytoplasmic 5'(3')-nucleotidase from human placenta
  JOURNAL   J Biol Chem 265 (12), 6589-6595 (1990)
   PUBMED   2157703
REFERENCE   9  (residues 1 to 201)
  AUTHORS   Xu WM, Gorman PA, Rider SH, Hedge PJ, Moore G, Prichard C, Sheer D
            and Solomon E.
  TITLE     Construction of a genetic map of human chromosome 17 by use of
            chromosome-mediated gene transfer
  JOURNAL   Proc Natl Acad Sci U S A 85 (22), 8563-8567 (1988)
   PUBMED   3186746
REFERENCE   10 (residues 1 to 201)
  AUTHORS   Wilson DE, Swallow DM and Povey S.
  TITLE     Assignment of the human gene for uridine 5'-monophosphate
            phosphohydrolase (UMPH2) to the long arm of chromosome 17
  JOURNAL   Ann Hum Genet 50 (3), 223-227 (1986)
   PUBMED   2833155
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF154829.2.
            
            Summary: This gene encodes a nucleotidase that catalyzes the
            dephosphorylation of the 5' deoxyribonucleotides (dNTP) and
            2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the
            different forms of nucleotidases characterized, this enzyme is
            unique in its preference for 5'-dNTP. It may be one of the enzymes
            involved in regulating the size of dNTP pools in cells.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Nov 2011].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript, and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC017454.1, AF154829.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000245552.7/ ENSP00000245552.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..201
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     Protein         1..201
                     /product="5'(3')-deoxyribonucleotidase, cytosolic type
                     isoform 1"
                     /EC_number="3.1.3.5"
                     /note="uridine 5'-monophosphate phosphohydrolase 2;
                     uridine 5-prime monophosphate hydrolase 2; 5'
                     nucleotidase, deoxy (pyrimidine), cytosolic type C;
                     5'(3')-deoxyribonucleotidase, cytosolic type;
                     deoxy-5'-nucleotidase 1; cytosolic 5',3'-pyrimidine
                     nucleotidase; epididymis luminal protein 74; epididymis
                     secretory sperm binding protein"
                     /calculated_mol_wt=23252
     Region          5..168
                     /region_name="HAD_5-3dNT"
                     /note="5'(3')-deoxyribonucleotidase; cd02587"
                     /db_xref="CDD:319786"
     Site            order(10..14,18..19,44..47,65,71,99..102,112,134,144..145,
                     148..149)
                     /site_type="active"
                     /db_xref="CDD:319786"
     Site            182
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8TCD5.2)"
     CDS             1..201
                     /gene="NT5C"
                     /gene_synonym="cdN; DNT; dNT-1; DNT1; HEL74; P5N2; PN-I;
                     PN-II; UMPH2"
                     /coded_by="NM_014595.3:36..641"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS11715.1"
                     /db_xref="GeneID:30833"
                     /db_xref="HGNC:HGNC:17144"
                     /db_xref="MIM:191720"
ORIGIN      
        1 marsvrvlvd mdgvladfea gllrgfrrrf peephvpleq rrgflareqy ralrpdladk
       61 vasvyeapgf fldlepipga ldavremndl pdtqvficts pllkyhhcvg ekyrwveqhl
      121 gpqfveriil trdktvvlgd lliddkdtvr gqeetpsweh ilftcchnrh lvlpptrrrl
      181 lswsdnwrei ldskrgaaqr e
//
LOCUS       NP_036309                447 aa            linear   PRI 25-DEC-2022
DEFINITION  F-box only protein 5 isoform a [Homo sapiens].
ACCESSION   NP_036309
VERSION     NP_036309.1
DBSOURCE    REFSEQ: accession NM_012177.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 447)
  AUTHORS   Liu P, Wang X, Pan L, Han B and He Z.
  TITLE     Prognostic Significance and Immunological Role of FBXO5 in Human
            Cancers: A Systematic Pan-Cancer Analysis
  JOURNAL   Front Immunol 13, 901784 (2022)
   PUBMED   35720327
  REMARK    GeneRIF: Prognostic Significance and Immunological Role of FBXO5 in
            Human Cancers: A Systematic Pan-Cancer Analysis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 447)
  AUTHORS   Kang JW, Zhan Z, Ji G, Sang Y, Zhou D, Li Y, Feng H and Cheng T.
  TITLE     PUMA facilitates EMI1-promoted cytoplasmic Rad51 ubiquitination and
            inhibits DNA repair in stem and progenitor cells
  JOURNAL   Signal Transduct Target Ther 6 (1), 129 (2021)
   PUBMED   33785736
  REMARK    GeneRIF: PUMA facilitates EMI1-promoted cytoplasmic Rad51
            ubiquitination and inhibits DNA repair in stem and progenitor
            cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 447)
  AUTHORS   Moustafa D, Elwahed MRA, Elsaid HH and Parvin JD.
  TITLE     Modulation of Early Mitotic Inhibitor 1 (EMI1) depletion on the
            sensitivity of PARP inhibitors in BRCA1 mutated triple-negative
            breast cancer cells
  JOURNAL   PLoS One 16 (1), e0235025 (2021)
   PUBMED   33412559
  REMARK    GeneRIF: Modulation of Early Mitotic Inhibitor 1 (EMI1) depletion
            on the sensitivity of PARP inhibitors in BRCA1 mutated
            triple-negative breast cancer cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 447)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 447)
  AUTHORS   Reimann JD and Jackson PK.
  TITLE     Emi1 is required for cytostatic factor arrest in vertebrate eggs
  JOURNAL   Nature 416 (6883), 850-854 (2002)
   PUBMED   11976684
REFERENCE   6  (residues 1 to 447)
  AUTHORS   Reimann JD, Freed E, Hsu JY, Kramer ER, Peters JM and Jackson PK.
  TITLE     Emi1 is a mitotic regulator that interacts with Cdc20 and inhibits
            the anaphase promoting complex
  JOURNAL   Cell 105 (5), 645-655 (2001)
   PUBMED   11389834
REFERENCE   7  (residues 1 to 447)
  AUTHORS   Chiaur DS, Murthy S, Cenciarelli C, Parks W, Loda M, Inghirami G,
            Demetrick D and Pagano M.
  TITLE     Five human genes encoding F-box proteins: chromosome mapping and
            analysis in human tumors
  JOURNAL   Cytogenet Cell Genet 88 (3-4), 255-258 (2000)
   PUBMED   10828603
REFERENCE   8  (residues 1 to 447)
  AUTHORS   Winston JT, Koepp DM, Zhu C, Elledge SJ and Harper JW.
  TITLE     A family of mammalian F-box proteins
  JOURNAL   Curr Biol 9 (20), 1180-1182 (1999)
   PUBMED   10531037
REFERENCE   9  (residues 1 to 447)
  AUTHORS   Cenciarelli C, Chiaur DS, Guardavaccaro D, Parks W, Vidal M and
            Pagano M.
  TITLE     Identification of a family of human F-box proteins
  JOURNAL   Curr Biol 9 (20), 1177-1179 (1999)
   PUBMED   10531035
REFERENCE   10 (residues 1 to 447)
  AUTHORS   Gubin AN, Njoroge JM, Bouffard GG and Miller JL.
  TITLE     Gene expression in proliferating human erythroid cells
  JOURNAL   Genomics 59 (2), 168-177 (1999)
   PUBMED   10409428
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA819893.1, BC018905.1,
            AJ420499.1 and AF129535.2.
            
            Summary: This gene encodes a member of the F-box protein family
            which is characterized by an approximately 40 amino acid motif, the
            F-box. The F-box proteins constitute one of the four subunits of
            the ubiquitin protein ligase complex called SCFs
            (SKP1-cullin-F-box), which function in phosphorylation-dependent
            ubiquitination. The F-box proteins are divided into 3 classes: Fbws
            containing WD-40 domains, Fbls containing leucine-rich repeats, and
            Fbxs containing either different protein-protein interaction
            modules or no recognizable motifs. The protein encoded by this gene
            belongs to the Fbxs class. This protein is similar to xenopus early
            mitotic inhibitor-1 (Emi1), which is a mitotic regulator that
            interacts with Cdc20 and inhibits the anaphase promoting complex.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Dec 2008].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189661.181552.1,
                                           SRR1660803.149738.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267754, SAMN03267767
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000229758.8/ ENSP00000229758.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..447
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.2"
     Protein         1..447
                     /product="F-box only protein 5 isoform a"
                     /note="F-box protein Fbx5; F-box only protein 5; early
                     mitotic inhibitor 1"
                     /calculated_mol_wt=50015
     Site            94
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7TSG3; propagated from
                     UniProtKB/Swiss-Prot (Q9UKT4.1)"
     Site            102
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKT4.1)"
     Region          135..244
                     /region_name="Interaction with EVI5.
                     /evidence=ECO:0000269|PubMed:16439210"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKT4.1)"
     Region          248..296
                     /region_name="F-box_FBXO5"
                     /note="F-box domain found in F-box only protein 5 (FBXO5)
                     and similar proteins; cd22170"
                     /db_xref="CDD:438941"
     Site            order(250,258,261..262,265..266,270,272..273,277..279,281)
                     /site_type="other"
                     /note="putative Skp1 binding site [polypeptide binding]"
                     /db_xref="CDD:438941"
     Region          261..409
                     /region_name="Requires for efficient binding to CDC20.
                     /evidence=ECO:0000250|UniProtKB:Q7TSG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKT4.1)"
     Region          261..339
                     /region_name="Sufficient for interaction with RPS6KA2,
                     Prevents association of CDC20 with RPS6KA2.
                     /evidence=ECO:0000250|UniProtKB:Q7TSG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKT4.1)"
     Region          305..447
                     /region_name="Inhibits APC ubiquitin ligase activity.
                     /evidence=ECO:0000269|PubMed:23708605"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKT4.1)"
     Region          322..325
                     /region_name="Competitively blocks access of APC
                     substrates to the D-box coreceptor formed by FZR1 and
                     ANAPC10. /evidence=ECO:0000269|PubMed:23708001"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKT4.1)"
     Region          337..358
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKT4.1)"
     Region          369..425
                     /region_name="BRcat_RBR_FBXO5"
                     /note="BRcat domain found in F-box only protein 5 (FBXO5);
                     cd20364"
                     /db_xref="CDD:439025"
     Region          378..420
                     /region_name="Allows a rapid multiple mono-ubiquitination
                     of the APC substrate, but strongly inhibits the slow
                     ubiquitin chain elongation catalyzed by UBCH10.
                     /evidence=ECO:0000269|PubMed:23708001"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKT4.1)"
     Region          437..447
                     /region_name="Sufficient to suppress UBE2S activity,
                     essential for interaction with UBE2S, competitively
                     inhibits the rapide ubiquitin chain elongation by UBE2D1
                     which blocks UBE2D1 with APC, indispensable for
                     recruitment and position of FBXO5 to the catalytic site of
                     APC, abrogates the inhibition of ubiquitin chain assembly
                     primarily catalyzed by UBE2S, inhibits the ubiquitination
                     by either UBE2C or UBE2D1.
                     /evidence=ECO:0000269|PubMed:23708001"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKT4.1)"
     CDS             1..447
                     /gene="FBXO5"
                     /gene_synonym="EMI1; FBX5; Fbxo31"
                     /coded_by="NM_012177.5:83..1426"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5242.1"
                     /db_xref="GeneID:26271"
                     /db_xref="HGNC:HGNC:13584"
                     /db_xref="MIM:606013"
ORIGIN      
        1 msrrpcscal rpprcscsas psavtaagrp rpsdsckees stlsvkmkcd fncnhvhsgl
       61 klvkpddigr lvsytpayle gsckdcikdy erlscigspi vsprivqlet eskrlhnken
      121 qhvqqtlnst neiealetsr lyedsgyssf slqsglsehe egslleenfg dslqscllqi
      181 qspdqypnkn llpvlhfekv vcstlkknak rnpkvdreml keiiargnfr lqniigrkmg
      241 lecvdilsel frrglrhvla tilaqlsdmd linvskvstt wkkileddkg afqlyskaiq
      301 rvtennnkfs phastreyvm frtplasvqk saaqtslkkd aqtklsnqgd qkgstysrhn
      361 efsevaktlk kneslkacir cnspakydcy lqratckreg cgfdyctkcl cnyhttkdcs
      421 dgkllkasck igplpgtkks kknlrrl
//
LOCUS       NP_009201                570 aa            linear   PRI 25-DEC-2022
DEFINITION  peptidyl-prolyl cis-trans isomerase FKBP9 isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_009201
VERSION     NP_009201.2
DBSOURCE    REFSEQ: accession NM_007270.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 570)
  AUTHORS   Xu H, Liu P, Yan Y, Fang K, Liang D, Hou X, Zhang X, Wu S, Ma J,
            Wang R, Li T, Piao H and Meng S.
  TITLE     FKBP9 promotes the malignant behavior of glioblastoma cells and
            confers resistance to endoplasmic reticulum stress inducers
  JOURNAL   J Exp Clin Cancer Res 39 (1), 44 (2020)
   PUBMED   32111229
  REMARK    GeneRIF: FKBP9 promotes the malignant behavior of glioblastoma
            cells and confers resistance to endoplasmic reticulum stress
            inducers.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 570)
  AUTHORS   Jiang FN, Dai LJ, Yang SB, Wu YD, Liang YX, Yin XL, Zou CY and
            Zhong WD.
  TITLE     Increasing of FKBP9 can predict poor prognosis in patients with
            prostate cancer
  JOURNAL   Pathol Res Pract 216 (1), 152732 (2020)
   PUBMED   31780055
  REMARK    GeneRIF: Increasing of FKBP9 can predict poor prognosis in patients
            with prostate cancer.
REFERENCE   3  (residues 1 to 570)
  AUTHORS   Zhang H, Li XJ, Martin DB and Aebersold R.
  TITLE     Identification and quantification of N-linked glycoproteins using
            hydrazide chemistry, stable isotope labeling and mass spectrometry
  JOURNAL   Nat Biotechnol 21 (6), 660-666 (2003)
   PUBMED   12754519
REFERENCE   4  (residues 1 to 570)
  AUTHORS   Patterson CE, Gao J, Rooney AP and Davis EC.
  TITLE     Genomic organization of mouse and human 65 kDa FK506-binding
            protein genes and evolution of the FKBP multigene family
  JOURNAL   Genomics 79 (6), 881-889 (2002)
   PUBMED   12036304
REFERENCE   5  (residues 1 to 570)
  AUTHORS   Shadidy M, Caubit X, Olsen R, Seternes OM, Moens U and Krauss S.
  TITLE     Biochemical analysis of mouse FKBP60, a novel member of the FKPB
            family
  JOURNAL   Biochim Biophys Acta 1446 (3), 295-307 (1999)
   PUBMED   10524204
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA234297.1, BC101723.1 and BC099918.1.
            On Aug 7, 2003 this sequence version replaced NP_009201.1.
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK075331.1, SRR1803615.247093.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000242209.9/ ENSP00000242209.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..570
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     Protein         1..570
                     /product="peptidyl-prolyl cis-trans isomerase FKBP9
                     isoform 1 precursor"
                     /EC_number="5.2.1.8"
                     /note="peptidyl-prolyl cis-trans isomerase FKBP9;
                     rotamase; FK506-binding protein 9; FKBP-9; FKBP-63; 63 kDa
                     FKBP; PPIase FKBP9; 63 kDa FK506-binding protein; FK506
                     binding protein 9, 63 kDa"
                     /calculated_mol_wt=60372
     sig_peptide     1..24
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2730
     Region          47..138
                     /region_name="FKBP_C"
                     /note="FKBP-type peptidyl-prolyl cis-trans isomerase;
                     pfam00254"
                     /db_xref="CDD:425560"
     Region          159..251
                     /region_name="FKBP_C"
                     /note="FKBP-type peptidyl-prolyl cis-trans isomerase;
                     pfam00254"
                     /db_xref="CDD:425560"
     Site            174
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519; propagated from
                     UniProtKB/Swiss-Prot (O95302.2)"
     Region          271..362
                     /region_name="FKBP_C"
                     /note="FKBP-type peptidyl-prolyl cis-trans isomerase;
                     pfam00254"
                     /db_xref="CDD:425560"
     Site            286
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519; propagated from
                     UniProtKB/Swiss-Prot (O95302.2)"
     Site            302
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95302.2)"
     Region          382..474
                     /region_name="FKBP_C"
                     /note="FKBP-type peptidyl-prolyl cis-trans isomerase;
                     pfam00254"
                     /db_xref="CDD:425560"
     Site            397
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519; propagated from
                     UniProtKB/Swiss-Prot (O95302.2)"
     Region          497..558
                     /region_name="EFh"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     cd00051"
                     /db_xref="CDD:238008"
     Site            order(501,503,505,512,546,548,550,557)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238008"
     Region          567..570
                     /region_name="Prevents secretion from ER.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU10138"
                     /note="propagated from UniProtKB/Swiss-Prot (O95302.2)"
     CDS             1..570
                     /gene="FKBP9"
                     /gene_synonym="FKBP60; FKBP63; PPIase"
                     /coded_by="NM_007270.5:135..1847"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS5439.1"
                     /db_xref="GeneID:11328"
                     /db_xref="HGNC:HGNC:3725"
                     /db_xref="MIM:616257"
ORIGIN      
        1 mafrgwrppp ppllllllwv tgqaapvagl gsdaelqier rfvpdecprt vrsgdfvryh
       61 yvgtfpdgqk fdssydrdst fnvfvgkgql itgmdqalvg mcvnerrfvk ippklaygne
      121 gvsgvippns vlhfdvllmd iwnsedqvqi htyfkppscp rtiqvsdfvr yhyngtfldg
      181 tlfdsshnrm ktydtyvgig wlipgmdkgl lgmcvgekri itippflayg edgdgkdipg
      241 qaslvfdval ldlhnpkdsi sienkvvpen cerisqsgdf lryhyngtll dgtlfdssys
      301 rnrtfdtyig qgyvipgmde gllgvcigek rrivvpphlg ygeegrgnip gsavlvfdih
      361 vidfhnpsds isitshykpp dcsvlskkgd ylkyhynasl ldgtlldstw nlgktynivl
      421 gsgqvvlgmd mglremcvge krtviipphl gygeagvdge vpgsavlvfd iellelvagl
      481 pegymfiwng evspnlfeei dkdgngevll eefseyihaq vasgkgklap gfdaelivkn
      541 mftnqdrngd gkvtaeefkl kdqeakhdel
//
LOCUS       NP_037444                719 aa            linear   PRI 26-DEC-2022
DEFINITION  protein Hook homolog 2 isoform 1 [Homo sapiens].
ACCESSION   NP_037444
VERSION     NP_037444.2
DBSOURCE    REFSEQ: accession NM_013312.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 719)
  AUTHORS   Christensen JR, Kendrick AA, Truong JB, Aguilar-Maldonado A, Adani
            V, Dzieciatkowska M and Reck-Peterson SL.
  TITLE     Cytoplasmic dynein-1 cargo diversity is mediated by the
            combinatorial assembly of FTS-Hook-FHIP complexes
  JOURNAL   Elife 10, e74538 (2021)
   PUBMED   34882091
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 719)
  AUTHORS   Qiao C, Jia H, Zhang H, Wang H, Liang J, Song J, Li L, Duan X, Cao
            K and Hu J.
  TITLE     Coding Variants in HOOK2 and GTPBP3 May Contribute to Risk of
            Primary Angle Closure Glaucoma
  JOURNAL   DNA Cell Biol 39 (6), 949-957 (2020)
   PUBMED   32397755
  REMARK    GeneRIF: Coding Variants in HOOK2 and GTPBP3 May Contribute to Risk
            of Primary Angle Closure Glaucoma
REFERENCE   3  (residues 1 to 719)
  AUTHORS   Mattera R, Williamson CD, Ren X and Bonifacino JS.
  TITLE     The FTS-Hook-FHIP (FHF) complex interacts with AP-4 to mediate
            perinuclear distribution of AP-4 and its cargo ATG9A
  JOURNAL   Mol Biol Cell 31 (9), 963-979 (2020)
   PUBMED   32073997
REFERENCE   4  (residues 1 to 719)
  AUTHORS   Kennedy SA, Jarboui MA, Srihari S, Raso C, Bryan K, Dernayka L,
            Charitou T, Bernal-Llinares M, Herrera-Montavez C, Krstic A,
            Matallanas D, Kotlyar M, Jurisica I, Curak J, Wong V, Stagljar I,
            LeBihan T, Imrie L, Pillai P, Lynn MA, Fasterius E, Al-Khalili
            Szigyarto C, Breen J, Kiel C, Serrano L, Rauch N, Rukhlenko O,
            Kholodenko BN, Iglesias-Martinez LF, Ryan CJ, Pilkington R,
            Cammareri P, Sansom O, Shave S, Auer M, Horn N, Klose F, Ueffing M,
            Boldt K, Lynn DJ and Kolch W.
  TITLE     Extensive rewiring of the EGFR network in colorectal cancer cells
            expressing transforming levels of KRASG13D
  JOURNAL   Nat Commun 11 (1), 499 (2020)
   PUBMED   31980649
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 719)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 719)
  AUTHORS   Szebenyi G, Wigley WC, Hall B, Didier A, Yu M, Thomas P and Kramer
            H.
  TITLE     Hook2 contributes to aggresome formation
  JOURNAL   BMC Cell Biol 8, 19 (2007)
   PUBMED   17540036
  REMARK    GeneRIF: Hook2 contributes to the establishment and maintenance of
            the pericentrosomal localization of aggresomes by promoting the
            microtubule-based delivery of protein aggregates to pericentriolar
            aggresomes.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 719)
  AUTHORS   Szebenyi G, Hall B, Yu R, Hashim AI and Kramer H.
  TITLE     Hook2 localizes to the centrosome, binds directly to
            centriolin/CEP110 and contributes to centrosomal function
  JOURNAL   Traffic 8 (1), 32-46 (2007)
   PUBMED   17140400
REFERENCE   8  (residues 1 to 719)
  AUTHORS   Simpson F, Martin S, Evans TM, Kerr M, James DE, Parton RG,
            Teasdale RD and Wicking C.
  TITLE     A novel hook-related protein family and the characterization of
            hook-related protein 1
  JOURNAL   Traffic 6 (6), 442-458 (2005)
   PUBMED   15882442
REFERENCE   9  (residues 1 to 719)
  AUTHORS   Walenta JH, Didier AJ, Liu X and Kramer H.
  TITLE     The Golgi-associated hook3 protein is a member of a novel family of
            microtubule-binding proteins
  JOURNAL   J Cell Biol 152 (5), 923-934 (2001)
   PUBMED   11238449
REFERENCE   10 (residues 1 to 719)
  AUTHORS   Kramer H and Phistry M.
  TITLE     Genetic analysis of hook, a gene required for endocytic trafficking
            in drosophila
  JOURNAL   Genetics 151 (2), 675-684 (1999)
   PUBMED   9927460
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB474423.1, AF044924.1 and BC012443.1.
            On Aug 1, 2007 this sequence version replaced NP_037444.1.
            
            Summary: Hook proteins are cytosolic coiled-coil proteins that
            contain conserved N-terminal domains, which attach to microtubules,
            and more divergent C-terminal domains, which mediate binding to
            organelles. The Drosophila Hook protein is a component of the
            endocytic compartment.[supplied by OMIM, Apr 2004].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF044924.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397668.8/ ENSP00000380785.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..719
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13"
     Protein         1..719
                     /product="protein Hook homolog 2 isoform 1"
                     /note="protein Hook homolog 2; hHK2; h-hook2; hook homolog
                     2"
                     /calculated_mol_wt=83076
     Region          1..548
                     /region_name="Sufficient for interaction with
                     microtubules"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96ED9.3)"
     Region          1..161
                     /region_name="Required for localization to the centrosome
                     and induction of aggresome formation"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96ED9.3)"
     Region          7..156
                     /region_name="HkD_Hook2"
                     /note="Hook domain found in protein Hook 2 (Hook2) and
                     similar proteins; cd22227"
                     /db_xref="CDD:411798"
     Site            order(123,129,132..133,135..136,140,143..144,146..147,
                     150..151,154)
                     /site_type="other"
                     /note="putative LIC-binding interface [polypeptide
                     binding]"
                     /db_xref="CDD:411798"
     Site            163
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96ED9.3)"
     Region          179..704
                     /region_name="HOOK"
                     /note="HOOK protein; pfam05622"
                     /db_xref="CDD:428548"
     Site            230
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96ED9.3)"
     Region          533..719
                     /region_name="Required for localization to the centrosome
                     and induction of aggresome formation"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96ED9.3)"
     Region          584..719
                     /region_name="Sufficient for interaction with CNTRL.
                     /evidence=ECO:0000269|PubMed:17140400"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96ED9.3)"
     Region          696..719
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96ED9.3)"
     Site            710
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96ED9.3)"
     CDS             1..719
                     /gene="HOOK2"
                     /gene_synonym="HK2"
                     /coded_by="NM_013312.3:104..2263"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS42508.1"
                     /db_xref="GeneID:29911"
                     /db_xref="HGNC:HGNC:19885"
                     /db_xref="MIM:607824"
ORIGIN      
        1 msvdkaelcg slltwlqtfh vpspcaspqd lssglavayv lnqidpswfn eawlqgised
       61 pgpnwklkvs nlkmvlrslv eysqdvlahp vseehlpdvs ligefsdpae lgkllqlvlg
      121 caiscekkqd hiqrimtlee svqhvvmeai qelmtkdtpd slspetygnf dsqsrryyfl
      181 seeaeegdel qqrcldlerq lmllseekqs laqenaglre rmgrpegegt pgltakklll
      241 lqsqleqlqe enfrlesgre derlrcaele revaelqhrn qaltslaqea qalkdemdel
      301 rqsseragql eatltscrrr lgelrelrrq vrqleernag haertrqled elrragslra
      361 qleaqrrqvq elqgqrqeea mkaekwlfec rnleekyesv tkekerllae rdslreanee
      421 lrcaqlqprg ltqadpsldp tstpvdnlaa eilpaelret llrlqlenkr lcrqeaadre
      481 rqeelqrhle danrarhgle tqhrlnqqql selraqvedl qkalqeqggk tedaisillk
      541 rkleehlqkl headlelqrk reyieelepp tdsstarrie elqhnlqkkd adlrameery
      601 rryvdkarmv mqtmepkqrp aagappelhs lrtqlrerdv rirhlemdfe ksrsqreqee
      661 kllisawynm gmalqqrage erapahaqsf laqqrlatns rrgplgrlas lnlrptdkh
//
LOCUS       NP_001307686             884 aa            linear   PRI 27-DEC-2022
DEFINITION  serine/threonine-protein kinase greatwall isoform 5 [Homo sapiens].
ACCESSION   NP_001307686 XP_006717581
VERSION     NP_001307686.1
DBSOURCE    REFSEQ: accession NM_001320757.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 884)
  AUTHORS   Marzec KA, Rogers S, McCloy R, Parker BL, James DE, Watkins DN and
            Burgess A.
  TITLE     SILAC kinase screen identifies potential MASTL substrates
  JOURNAL   Sci Rep 12 (1), 10568 (2022)
   PUBMED   35732702
  REMARK    GeneRIF: SILAC kinase screen identifies potential MASTL substrates.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 884)
  AUTHORS   Fatima I, Barman S, Uppada J, Chauhan S, Rauth S, Rachagani S,
            Ponnusamy MP, Smith L, Talmon G, Singh AB, Batra SK and Dhawan P.
  TITLE     MASTL regulates EGFR signaling to impact pancreatic cancer
            progression
  JOURNAL   Oncogene 40 (38), 5691-5704 (2021)
   PUBMED   34331012
  REMARK    GeneRIF: MASTL regulates EGFR signaling to impact pancreatic cancer
            progression.
REFERENCE   3  (residues 1 to 884)
  AUTHORS   Monsivais D, Vasquez YM, Chen F, Zhang Y, Chandrashekar DS, Faver
            JC, Masand RP, Scheurer ME, Varambally S, Matzuk MM and Creighton
            CJ.
  TITLE     Mass-spectrometry-based proteomic correlates of grade and stage
            reveal pathways and kinases associated with aggressive human
            cancers
  JOURNAL   Oncogene 40 (11), 2081-2095 (2021)
   PUBMED   33627787
  REMARK    GeneRIF: Mass-spectrometry-based proteomic correlates of grade and
            stage reveal pathways and kinases associated with aggressive human
            cancers.
REFERENCE   4  (residues 1 to 884)
  AUTHORS   An CX, Xie SP, Li HL, Hu YH, Niu R, Zhang LJ, Jiang Y, Li Q and
            Zhou YN.
  TITLE     Knockdown of Microtubule Associated Serine/threonine Kinase Like
            Expression Inhibits Gastric Cancer Cell Growth and Induces
            Apoptosis by Activation of ERK1/2 and Inactivation of NF-kappaB
            Signaling
  JOURNAL   Curr Med Sci 41 (1), 108-117 (2021)
   PUBMED   33582914
  REMARK    GeneRIF: Knockdown of Microtubule Associated Serine/threonine
            Kinase Like Expression Inhibits Gastric Cancer Cell Growth and
            Induces Apoptosis by Activation of ERK1/2 and Inactivation of
            NF-kappaB Signaling.
REFERENCE   5  (residues 1 to 884)
  AUTHORS   Fatima I, Singh AB and Dhawan P.
  TITLE     MASTL: A novel therapeutic target for Cancer Malignancy
  JOURNAL   Cancer Med 9 (17), 6322-6329 (2020)
   PUBMED   32692487
  REMARK    GeneRIF: MASTL: A novel therapeutic target for Cancer Malignancy.
            Review article
REFERENCE   6  (residues 1 to 884)
  AUTHORS   Burgess A, Vigneron S, Brioudes E, Labbe JC, Lorca T and Castro A.
  TITLE     Loss of human Greatwall results in G2 arrest and multiple mitotic
            defects due to deregulation of the cyclin B-Cdc2/PP2A balance
  JOURNAL   Proc Natl Acad Sci U S A 107 (28), 12564-12569 (2010)
   PUBMED   20538976
REFERENCE   7  (residues 1 to 884)
  AUTHORS   Kim YC, Wu Q, Chen J, Xuan Z, Jung YC, Zhang MQ, Rowley JD and Wang
            SM.
  TITLE     The transcriptome of human CD34+ hematopoietic stem-progenitor
            cells
  JOURNAL   Proc Natl Acad Sci U S A 106 (20), 8278-8283 (2009)
   PUBMED   19416867
REFERENCE   8  (residues 1 to 884)
  AUTHORS   Gandhi MJ, Cummings CL and Drachman JG.
  TITLE     FLJ14813 missense mutation: a candidate for autosomal dominant
            thrombocytopenia on human chromosome 10
  JOURNAL   Hum Hered 55 (1), 66-70 (2003)
   PUBMED   12890928
  REMARK    GeneRIF: A novel missense mutation in the human gene FLJ14813 is
            associated with autosomal dominant thrombocytopenia
            GeneRIF: A paper that narrows the identity of the gene for
            autosomal dominant thrombocytopenia (THC2) to FLJ14813. The
            mutation is present in all affected people across three generations
            while is absent in unaffected family members & 94 random blood
            donors.
REFERENCE   9  (residues 1 to 884)
  AUTHORS   Drachman JG, Jarvik GP and Mehaffey MG.
  TITLE     Autosomal dominant thrombocytopenia: incomplete megakaryocyte
            differentiation and linkage to human chromosome 10
  JOURNAL   Blood 96 (1), 118-125 (2000)
   PUBMED   10891439
REFERENCE   10 (residues 1 to 884)
  AUTHORS   Savoia A, Del Vecchio M, Totaro A, Perrotta S, Amendola G, Moretti
            A, Zelante L and Iolascon A.
  TITLE     An autosomal dominant thrombocytopenia gene maps to chromosomal
            region 10p
  JOURNAL   Am J Hum Genet 65 (5), 1401-1405 (1999)
   PUBMED   10521306
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL160291.31.
            On Mar 4, 2016 this sequence version replaced XP_006717581.1.
            
            Summary: This gene encodes a microtubule-associated
            serine/threonine kinase. Mutations at this locus have been
            associated with autosomal dominant thrombocytopenia, also known as
            thrombocytopenia-2. Alternatively spliced transcript variants have
            been described for this locus. [provided by RefSeq, Feb 2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..884
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.1"
     Protein         1..884
                     /product="serine/threonine-protein kinase greatwall
                     isoform 5"
                     /EC_number="2.7.11.1"
                     /note="serine/threonine-protein kinase greatwall;
                     greatwall protein kinase; greatwall kinase homolog"
                     /calculated_mol_wt=97694
     Region          1..23
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96GX5.1)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     Region          30..>223
                     /region_name="STKc_MASTL"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Microtubule-associated serine/threonine-like kinase (also
                     called greatwall kinase); cd05610"
                     /db_xref="CDD:270761"
     Site            order(41..45,49,60,62,94,111..113,117,156,158,160..161,
                     163,173..174)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270761"
     Site            207
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     Site            222
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     Site            293
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     Site            370
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q96GX5.1)"
     Site            453
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     Site            519
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     Site            552
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     Site            556
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     Region          566..632
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96GX5.1)"
     Site            631
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     Site            657
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     Site            668
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     Region          700..728
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96GX5.1)"
     Region          <709..875
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            722
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     Site            725
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     Site            741
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     Site            880
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     Site            883
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96GX5.1)"
     CDS             1..884
                     /gene="MASTL"
                     /gene_synonym="GREATWALL; GW; GWL; MAST-L; THC2"
                     /coded_by="NM_001320757.2:76..2730"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:84930"
                     /db_xref="HGNC:HGNC:19042"
                     /db_xref="MIM:608221"
ORIGIN      
        1 mdptagskke pgggaateeg vnriavpkpp sieefsivkp isrgafgkvy lgqkggklya
       61 vkvvkkadmi nknmthqvqa erdalalsks pfivhlyysl qsannvylvm eyliggdvks
      121 llhiygyfde emavkyisev alaldylhrh giihrdlkpd nmlisneghi kltdfglskv
      181 tlnrdinmmd ilttpsmakp rqdysrtpgq vlslisslgf ntpiaeknqd panilsacls
      241 etsqlsqglv cpmsvdqkdt tpysskllks cletvasnpg mpvkcltsnl lqsrkrlats
      301 sassqshtfi ssvesechss pkwekdcqes dealgptmms wnaveklcak sanaietkgf
      361 nkkdlelals pihnssalpt tgrscvnlak kcfsgevswe aveldvnnin mdtdtsqlgf
      421 hqsnqwavds ggiseehlgk rslkrnfelv dsspckkiiq nkktcveykh nemtncytnq
      481 ntgltvevqd lklsvhksqq ndcankeniv nsftdkqqtp eklpipmiak nlmceldedc
      541 eknskrdyls ssflcsdddr asknismnsd ssfpgisime splesqplds drsikessfe
      601 esniedpliv tpdcqektsp kgvenpavqe snqkmlgppl evlktlaskr navafrsfns
      661 hinasnnsep srmnmtslda mdiscaysgs ypmaitptqk rrscmphqqt pnqiksgtpy
      721 rtpksvrrgv apvddgrilg tpdylapell lgrahgflts gpavdwwalg vclfefltgi
      781 ppfndetpqq vfqnilkrdi pwpegeekls dnaqsaveil ltiddtkrag mkelkrhplf
      841 sdvdwenlqh qtmpfipqpd detdtsyfea rntaqhltvs gfsl
//
LOCUS       NP_001363601             303 aa            linear   PRI 27-DEC-2022
DEFINITION  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform 12 [Homo
            sapiens].
ACCESSION   NP_001363601 XP_005245385
VERSION     NP_001363601.1
DBSOURCE    REFSEQ: accession NM_001376672.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 303)
  AUTHORS   Abdul Rehman SA, Armstrong LA, Lange SM, Kristariyanto YA, Grawert
            TW, Knebel A, Svergun DI and Kulathu Y.
  TITLE     Mechanism of activation and regulation of deubiquitinase activity
            in MINDY1 and MINDY2
  JOURNAL   Mol Cell 81 (20), 4176-4190 (2021)
   PUBMED   34529927
  REMARK    GeneRIF: Mechanism of activation and regulation of deubiquitinase
            activity in MINDY1 and MINDY2.
REFERENCE   2  (residues 1 to 303)
  AUTHORS   Tang J, Luo Y, Long G and Zhou L.
  TITLE     MINDY1 promotes breast cancer cell proliferation by stabilizing
            estrogen receptor alpha
  JOURNAL   Cell Death Dis 12 (10), 937 (2021)
   PUBMED   34645792
  REMARK    GeneRIF: MINDY1 promotes breast cancer cell proliferation by
            stabilizing estrogen receptor alpha.
            Erratum:[Cell Death Dis. 2022 Jan 27;13(1):88. PMID: 35087032]
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 303)
  AUTHORS   Kristariyanto YA, Abdul Rehman SA, Weidlich S, Knebel A and Kulathu
            Y.
  TITLE     A single MIU motif of MINDY-1 recognizes K48-linked polyubiquitin
            chains
  JOURNAL   EMBO Rep 18 (3), 392-402 (2017)
   PUBMED   28082312
REFERENCE   4  (residues 1 to 303)
  AUTHORS   Abdul Rehman SA, Kristariyanto YA, Choi SY, Nkosi PJ, Weidlich S,
            Labib K, Hofmann K and Kulathu Y.
  TITLE     MINDY-1 Is a Member of an Evolutionarily Conserved and Structurally
            Distinct New Family of Deubiquitinating Enzymes
  JOURNAL   Mol Cell 63 (1), 146-155 (2016)
   PUBMED   27292798
  REMARK    GeneRIF: MINDY-1 prefers cleaving long polyubiquitin chains and
            works by trimming chains from the distal end.
REFERENCE   5  (residues 1 to 303)
  AUTHORS   Kirin M, Chandra A, Charteris DG, Hayward C, Campbell S, Celap I,
            Bencic G, Vatavuk Z, Kirac I, Richards AJ, Tenesa A, Snead MP,
            Fleck BW, Singh J, Harsum S, Maclaren RE, den Hollander AI, Dunlop
            MG, Hoyng CB, Wright AF, Campbell H, Vitart V and Mitry D.
  TITLE     Genome-wide association study identifies genetic risk underlying
            primary rhegmatogenous retinal detachment
  JOURNAL   Hum Mol Genet 22 (15), 3174-3185 (2013)
   PUBMED   23585552
REFERENCE   6  (residues 1 to 303)
  AUTHORS   Kottgen A, Pattaro C, Boger CA, Fuchsberger C, Olden M, Glazer NL,
            Parsa A, Gao X, Yang Q, Smith AV, O'Connell JR, Li M, Schmidt H,
            Tanaka T, Isaacs A, Ketkar S, Hwang SJ, Johnson AD, Dehghan A,
            Teumer A, Pare G, Atkinson EJ, Zeller T, Lohman K, Cornelis MC,
            Probst-Hensch NM, Kronenberg F, Tonjes A, Hayward C, Aspelund T,
            Eiriksdottir G, Launer LJ, Harris TB, Rampersaud E, Mitchell BD,
            Arking DE, Boerwinkle E, Struchalin M, Cavalieri M, Singleton A,
            Giallauria F, Metter J, de Boer IH, Haritunians T, Lumley T,
            Siscovick D, Psaty BM, Zillikens MC, Oostra BA, Feitosa M, Province
            M, de Andrade M, Turner ST, Schillert A, Ziegler A, Wild PS,
            Schnabel RB, Wilde S, Munzel TF, Leak TS, Illig T, Klopp N,
            Meisinger C, Wichmann HE, Koenig W, Zgaga L, Zemunik T, Kolcic I,
            Minelli C, Hu FB, Johansson A, Igl W, Zaboli G, Wild SH, Wright AF,
            Campbell H, Ellinghaus D, Schreiber S, Aulchenko YS, Felix JF,
            Rivadeneira F, Uitterlinden AG, Hofman A, Imboden M, Nitsch D,
            Brandstatter A, Kollerits B, Kedenko L, Magi R, Stumvoll M, Kovacs
            P, Boban M, Campbell S, Endlich K, Volzke H, Kroemer HK, Nauck M,
            Volker U, Polasek O, Vitart V, Badola S, Parker AN, Ridker PM,
            Kardia SL, Blankenberg S, Liu Y, Curhan GC, Franke A, Rochat T,
            Paulweber B, Prokopenko I, Wang W, Gudnason V, Shuldiner AR, Coresh
            J, Schmidt R, Ferrucci L, Shlipak MG, van Duijn CM, Borecki I,
            Kramer BK, Rudan I, Gyllensten U, Wilson JF, Witteman JC,
            Pramstaller PP, Rettig R, Hastie N, Chasman DI, Kao WH, Heid IM and
            Fox CS.
  TITLE     New loci associated with kidney function and chronic kidney disease
  JOURNAL   Nat Genet 42 (5), 376-384 (2010)
   PUBMED   20383146
REFERENCE   7  (residues 1 to 303)
  AUTHORS   Lehner B and Sanderson CM.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590133.32.
            On Nov 18, 2019 this sequence version replaced XP_005245385.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.9611.1,
                                           SRR9304716.427637.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..303
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..303
                     /product="ubiquitin carboxyl-terminal hydrolase MINDY-1
                     isoform 12"
                     /EC_number="3.4.19.12"
                     /note="protein FAM63A; deubiquitinating enzyme MINDY-1;
                     ubiquitin carboxyl-terminal hydrolase MINDY-1;
                     MIU-containing novel DUB family member 1; motif
                     interacting with Ub-containing novel DUB; family with
                     sequence similarity 63 member A; MINDY deubiquitinase 1"
                     /calculated_mol_wt=33475
     Region          <1..95
                     /region_name="MINDY_DUB"
                     /note="MINDY deubiquitinase; pfam04424"
                     /db_xref="CDD:427941"
     CDS             1..303
                     /gene="MINDY1"
                     /gene_synonym="FAM63A; MINDY-1"
                     /coded_by="NM_001376672.1:637..1548"
                     /note="isoform 12 is encoded by transcript variant 15"
                     /db_xref="GeneID:55793"
                     /db_xref="HGNC:HGNC:25648"
                     /db_xref="MIM:618407"
ORIGIN      
        1 mahlgnclls ikpqeksegl qlnfqqnvdd amtvlpklat gldvnvrftg vsdfeytpec
       61 svfdllgipl yhgwlvdpqs peavravgkl synqlverii tckhssdtnl vtegliaeqf
      121 lettaaqlty hglceltaaa kegelsvffr nnhfstmtkh kshlyllvtd qgflqeeqvv
      181 weslhnvdgd scfcdsdfhl shslgkgpga eggsgspetq lqvdqdylia lslqqqqprg
      241 plgltdlela qqlqqeeyqq qqaaqpvrmr trvlslqgrg atsgrpager rqrpkhesdc
      301 ill
//
LOCUS       NP_001271351             170 aa            linear   PRI 30-DEC-2022
DEFINITION  lysM and putative peptidoglycan-binding domain-containing protein 4
            isoform e [Homo sapiens].
ACCESSION   NP_001271351 XP_005254925
VERSION     NP_001271351.1
DBSOURCE    REFSEQ: accession NM_001284422.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 170)
  AUTHORS   Wojczynski MK, Li M, Bielak LF, Kerr KF, Reiner AP, Wong ND, Yanek
            LR, Qu L, White CC, Lange LA, Ferguson JF, He J, Young T, Mosley
            TH, Smith JA, Kral BG, Guo X, Wong Q, Ganesh SK, Heckbert SR,
            Griswold ME, O'Leary DH, Budoff M, Carr JJ, Taylor HA Jr, Bluemke
            DA, Demissie S, Hwang SJ, Paltoo DN, Polak JF, Psaty BM, Becker DM,
            Province MA, Post WS, O'Donnell CJ, Wilson JG, Harris TB, Kavousi
            M, Cupples LA, Rotter JI, Fornage M, Becker LC, Peyser PA, Borecki
            IB and Reilly MP.
  TITLE     Genetics of coronary artery calcification among African Americans,
            a meta-analysis
  JOURNAL   BMC Med Genet 14, 75 (2013)
   PUBMED   23870195
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 170)
  CONSRTM   GENDEP Investigators; MARS Investigators; STAR*D Investigators
  TITLE     Common genetic variation and antidepressant efficacy in major
            depressive disorder: a meta-analysis of three genome-wide
            pharmacogenetic studies
  JOURNAL   Am J Psychiatry 170 (2), 207-217 (2013)
   PUBMED   23377640
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK056718.1, BC041097.1, DB044672.1, DA594971.1 and AC022692.11.
            On Oct 1, 2013 this sequence version replaced XP_005254925.1.
            
            Transcript Variant: This variant (7) lacks an alternate exon in the
            coding region and initiates translation at a downstream in-frame
            start codon, compared to variant 1. The encoded isoform (e) has a
            shorter N-terminus than isoform a. Variants 6 and 7 encoded the
            same isoform (e).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3779223.1,
                                           SRR18074969.51367.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..170
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     Protein         1..170
                     /product="lysM and putative peptidoglycan-binding
                     domain-containing protein 4 isoform e"
                     /note="lysM and putative peptidoglycan-binding
                     domain-containing protein 4; LysM, putative
                     peptidoglycan-binding, domain containing 4"
                     /calculated_mol_wt=17965
     CDS             1..170
                     /gene="LYSMD4"
                     /coded_by="NM_001284422.2:606..1118"
                     /note="isoform e is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS66876.1"
                     /db_xref="GeneID:145748"
                     /db_xref="HGNC:HGNC:26571"
ORIGIN      
        1 methkelkpl lspssettvt velpeadrag agtgaqagql mgffkgidqd ieravqseif
       61 lhesycmdts hqpllpappk tpmdgadcgi qwwnavfiml ligivlpvfy lvyfkiqasg
      121 etpnslnttv ipngsmamgt vpgqaprlav avpavtsads qfsqttqags
//
LOCUS       NP_001307139             348 aa            linear   PRI 31-DEC-2022
DEFINITION  ubiquitin-like modifier-activating enzyme 5 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001307139 XP_011511486
VERSION     NP_001307139.1
DBSOURCE    REFSEQ: accession NM_001320210.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 348)
  AUTHORS   Fuchs S, Kikhney AG, Schubert R, Kaiser C, Liebau E, Svergun DI,
            Betzel C and Perbandt M.
  TITLE     Structure and dynamics of UBA5-UFM1 complex formation showing new
            insights in the UBA5 activation mechanism
  JOURNAL   J Struct Biol 213 (4), 107796 (2021)
   PUBMED   34508858
  REMARK    GeneRIF: Structure and dynamics of UBA5-UFM1 complex formation
            showing new insights in the UBA5 activation mechanism.
REFERENCE   2  (residues 1 to 348)
  AUTHORS   Al-Saady ML, Kaiser CS, Wakasuqui F, Korenke GC, Waisfisz Q,
            Polstra A, Pouwels PJW, Bugiani M, van der Knaap MS, Lunsing RJ,
            Liebau E and Wolf NI.
  TITLE     Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic
            Involvement and Axonal Neuropathy
  JOURNAL   Neuropediatrics 52 (6), 489-494 (2021)
   PUBMED   33853163
  REMARK    GeneRIF: Homozygous UBA5 Variant Leads to Hypomyelination with
            Thalamic Involvement and Axonal Neuropathy.
REFERENCE   3  (residues 1 to 348)
  AUTHORS   Kumar M, Padala P, Fahoum J, Hassouna F, Tsaban T, Zoltsman G,
            Banerjee S, Cohen-Kfir E, Dessau M, Rosenzweig R, Isupov MN,
            Schueler-Furman O and Wiener R.
  TITLE     Structural basis for UFM1 transfer from UBA5 to UFC1
  JOURNAL   Nat Commun 12 (1), 5708 (2021)
   PUBMED   34588452
  REMARK    GeneRIF: Structural basis for UFM1 transfer from UBA5 to UFC1.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 348)
  AUTHORS   Wesch N, Lohr F, Rogova N, Dotsch V and Rogov VV.
  TITLE     A Concerted Action of UBA5 C-Terminal Unstructured Regions Is
            Important for Transfer of Activated UFM1 to UFC1
  JOURNAL   Int J Mol Sci 22 (14), 7390 (2021)
   PUBMED   34299007
  REMARK    GeneRIF: A Concerted Action of UBA5 C-Terminal Unstructured Regions
            Is Important for Transfer of Activated UFM1 to UFC1.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 348)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 348)
  AUTHORS   Behrends C, Sowa ME, Gygi SP and Harper JW.
  TITLE     Network organization of the human autophagy system
  JOURNAL   Nature 466 (7302), 68-76 (2010)
   PUBMED   20562859
REFERENCE   7  (residues 1 to 348)
  AUTHORS   Bacik JP, Walker JR, Ali M, Schimmer AD and Dhe-Paganon S.
  TITLE     Crystal structure of the human ubiquitin-activating enzyme 5 (UBA5)
            bound to ATP: mechanistic insights into a minimalistic E1 enzyme
  JOURNAL   J Biol Chem 285 (26), 20273-20280 (2010)
   PUBMED   20368332
  REMARK    GeneRIF: Studies reveal structural features of UBA5 that further
            understanding of the enzyme reaction mechanism and provide insight
            into the evolution of ubiquitin activation.
REFERENCE   8  (residues 1 to 348)
  AUTHORS   Zheng M, Gu X, Zheng D, Yang Z, Li F, Zhao J, Xie Y, Ji C and Mao
            Y.
  TITLE     UBE1DC1, an ubiquitin-activating enzyme, activates two different
            ubiquitin-like proteins
  JOURNAL   J Cell Biochem 104 (6), 2324-2334 (2008)
   PUBMED   18442052
  REMARK    GeneRIF: UBE1DC1 greatly activated SUMO2 in the nucleus or
            transferred activated-SUMO2 to nucleus after it conjugated SUMO2 in
            the cytoplasm.
REFERENCE   9  (residues 1 to 348)
  AUTHORS   Dou T, Gu S, Liu J, Chen F, Zeng L, Guo L, Xie Y and Mao Y.
  TITLE     Isolation and characterization of ubiquitin-activating enzyme
            E1-domain containing 1, UBE1DC1
  JOURNAL   Mol Biol Rep 32 (4), 265-271 (2005)
   PUBMED   16328888
REFERENCE   10 (residues 1 to 348)
  AUTHORS   Komatsu M, Chiba T, Tatsumi K, Iemura S, Tanida I, Okazaki N, Ueno
            T, Kominami E, Natsume T and Tanaka K.
  TITLE     A novel protein-conjugating system for Ufm1, a ubiquitin-fold
            modifier
  JOURNAL   EMBO J 23 (9), 1977-1986 (2004)
   PUBMED   15071506
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020632.16, BI562266.1,
            BC048015.1, AK026904.1, BX537742.1, AI681654.1 and AC055732.16.
            On Feb 17, 2016 this sequence version replaced XP_011511486.1.
            
            Summary: This gene encodes a member of the E1-like
            ubiquitin-activating enzyme family. This protein activates
            ubiquitin-fold modifier 1, a ubiquitin-like post-translational
            modifier protein, via the formation of a high-energy thioester
            bond. Alternative splicing results in multiple transcript variants.
            A pseudogene of this gene has been identified on chromosome 1.
            [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (3) uses an alternate 5' terminal
            exon, resulting in a distinct 5' UTR and the use of a downstream
            start codon, compared to variant 1. The encoded isoform (2) has a
            shorter N-terminus compared to isoform 1. Variants 2 and 3 encode
            the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC048015.1, SRR18074969.1966301.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..348
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     Protein         1..348
                     /product="ubiquitin-like modifier-activating enzyme 5
                     isoform 2"
                     /note="ubiquitin-activating enzyme E1-domain containing 1;
                     UBA5, ubiquitin-activating enzyme E1 homolog;
                     UFM1-activating enzyme; ubiquitin-activating enzyme 5;
                     ubiquitin-activating enzyme E1 domain-containing protein
                     1"
                     /calculated_mol_wt=38406
     Region          1..241
                     /region_name="ThiF_MoeB_HesA_family"
                     /note="ThiF_MoeB_HesA. Family of E1-like enzymes involved
                     in molybdopterin and thiamine biosynthesis family. The
                     common reaction mechanism catalyzed by MoeB and ThiF, like
                     other E1 enzymes, begins with a nucleophilic attack of the
                     C-terminal carboxylate of MoaD...; cd00757"
                     /db_xref="CDD:238386"
     Site            order(24,26,28,48,50,59,71,125,131)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:238386"
     Site            order(28,126..128,132,150..151,157,159,226,230,237,
                     239..240)
                     /site_type="other"
                     /note="substrate interface [chemical binding]"
                     /db_xref="CDD:238386"
     CDS             1..348
                     /gene="UBA5"
                     /gene_synonym="DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1"
                     /coded_by="NM_001320210.2:728..1774"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS3077.1"
                     /db_xref="GeneID:79876"
                     /db_xref="HGNC:HGNC:23230"
                     /db_xref="MIM:610552"
ORIGIN      
        1 malkrmgivs dyekirtfav aivgvggvgs vtaemltrcg igklllfdyd kvelanmnrl
       61 ffqphqagls kvqaaehtlr ninpdvlfev hnynittven fqhfmdrisn ggleegkpvd
      121 lvlscvdnfe armtintacn elgqtwmesg vsenavsghi qliipgesac facapplvva
      181 anidektlkr egvcaaslpt tmgvvagilv qnvlkfllnf gtvsfylgyn amqdffptms
      241 mkpnpqcddr ncrkqqeeyk kkvaalpkqe viqeeeeiih ednewgielv sevseeelkn
      301 fsgpvpdlpe gitvaytipk kqedsvtelt vedsgesled lmakmknm
//
LOCUS       NP_001381120             199 aa            linear   PRI 31-DEC-2022
DEFINITION  probable ribonuclease 11 precursor [Homo sapiens].
ACCESSION   NP_001381120
VERSION     NP_001381120.1
DBSOURCE    REFSEQ: accession NM_001394191.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 199)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 199)
  AUTHORS   Premzl M.
  TITLE     Comparative genomic analysis of eutherian ribonuclease A genes
  JOURNAL   Mol Genet Genomics 289 (2), 161-167 (2014)
   PUBMED   24337645
REFERENCE   3  (residues 1 to 199)
  AUTHORS   Cho S, Beintema JJ and Zhang J.
  TITLE     The ribonuclease A superfamily of mammals and birds: identifying
            new members and tracing evolutionary histories
  JOURNAL   Genomics 85 (2), 208-220 (2005)
   PUBMED   15676279
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL163195.5.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.151540.1, BI459201.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..199
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     Protein         1..199
                     /product="probable ribonuclease 11 precursor"
                     /note="probable ribonuclease 11; epididymis secretory
                     sperm binding protein Li 84p; ribonuclease A J1;
                     ribonuclease, RNase A family, 11 (non-active)"
                     /calculated_mol_wt=20515
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1930
     Site            61
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TAA1.1)"
     Region          73..187
                     /region_name="RNase_A"
                     /note="RNase A family, or Pancreatic RNases family;
                     includes vertebrate RNase homologs to the bovine
                     pancreatic ribonuclease A (RNase A). Many of these enzymes
                     have special biological activities; for example, some
                     stimulate the development of vascular...; cd00163"
                     /db_xref="CDD:119386"
     Site            89
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TAA1.1)"
     Site            111
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TAA1.1)"
     Site            order(116,149,159,174,177,179..180,182)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:119386"
     CDS             1..199
                     /gene="RNASE11"
                     /gene_synonym="C14orf6; HEL-S-84p; RAJ1"
                     /coded_by="NM_001394191.1:319..918"
                     /db_xref="CCDS:CCDS9553.1"
                     /db_xref="GeneID:122651"
                     /db_xref="HGNC:HGNC:19269"
ORIGIN      
        1 metfplllls lglvlaease stmkiikeef tdeemqydma ksgqekqtie ilmnpillvk
       61 ntslsmskdd msstlltfrs lhyndpkgns sgndkeccnd mtvwrkvsea ngsckwsnnf
      121 irsstevmrr vhrapsckfv qnpgiscces lelentvcqf ttgkqfprcq yhsvtsleki
      181 ltvltghslm swlvcgskl
//
LOCUS       NP_001380552            1069 aa            linear   PRI 31-DEC-2022
DEFINITION  RIMS-binding protein 2 isoform c [Homo sapiens].
ACCESSION   NP_001380552
VERSION     NP_001380552.1
DBSOURCE    REFSEQ: accession NM_001393623.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1069)
  AUTHORS   Hollingworth P, Sweet R, Sims R, Harold D, Russo G, Abraham R,
            Stretton A, Jones N, Gerrish A, Chapman J, Ivanov D, Moskvina V,
            Lovestone S, Priotsi P, Lupton M, Brayne C, Gill M, Lawlor B, Lynch
            A, Craig D, McGuinness B, Johnston J, Holmes C, Livingston G, Bass
            NJ, Gurling H, McQuillin A, Holmans P, Jones L, Devlin B, Klei L,
            Barmada MM, Demirci FY, DeKosky ST, Lopez OL, Passmore P, Owen MJ,
            O'Donovan MC, Mayeux R, Kamboh MI and Williams J.
  CONSRTM   GERAD Consortium; National Institute on Aging Late-Onset
            Alzheimer's Disease Family Study Group
  TITLE     Genome-wide association study of Alzheimer's disease with psychotic
            symptoms
  JOURNAL   Mol Psychiatry 17 (12), 1316-1327 (2012)
   PUBMED   22005930
REFERENCE   2  (residues 1 to 1069)
  AUTHORS   Hendrickx A, Beullens M, Ceulemans H, Den Abt T, Van Eynde A,
            Nicolaescu E, Lesage B and Bollen M.
  TITLE     Docking motif-guided mapping of the interactome of protein
            phosphatase-1
  JOURNAL   Chem Biol 16 (4), 365-371 (2009)
   PUBMED   19389623
REFERENCE   3  (residues 1 to 1069)
  AUTHORS   Mittelstaedt T and Schoch S.
  TITLE     Structure and evolution of RIM-BP genes: identification of a novel
            family member
  JOURNAL   Gene 403 (1-2), 70-79 (2007)
   PUBMED   17855024
  REMARK    GeneRIF: RIMBP2 is identified in humans
REFERENCE   4  (residues 1 to 1069)
  AUTHORS   Guinn BA, Bland EA, Lodi U, Liggins AP, Tobal K, Petters S, Wells
            JW, Banham AH and Mufti GJ.
  TITLE     Humoral detection of leukaemia-associated antigens in presentation
            acute myeloid leukaemia
  JOURNAL   Biochem Biophys Res Commun 335 (4), 1293-1304 (2005)
   PUBMED   16112646
REFERENCE   5  (residues 1 to 1069)
  AUTHORS   Wang Y, Sugita S and Sudhof TC.
  TITLE     The RIM/NIM family of neuronal C2 domain proteins. Interactions
            with Rab3 and a new class of Src homology 3 domain proteins
  JOURNAL   J Biol Chem 275 (26), 20033-20044 (2000)
   PUBMED   10748113
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073912.38, AC095350.8 and AC063926.36.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1660803.52988.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1069
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     Protein         1..1069
                     /product="RIMS-binding protein 2 isoform c"
                     /note="RIM binding protein 2; protein phosphatase 1,
                     regulatory subunit 133"
                     /calculated_mol_wt=117784
     Region          24..>85
                     /region_name="DUF4200"
                     /note="Domain of unknown function (DUF4200); pfam13863"
                     /db_xref="CDD:433535"
     Region          132..181
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15034.3)"
     Region          188..248
                     /region_name="SH3_RIM-BP_1"
                     /note="First Src homology 3 domain of Rab3-interacting
                     molecules (RIMs) binding proteins; cd12014"
                     /db_xref="CDD:212947"
     Site            order(193,195,198,208,227..228,242,244..245)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212947"
     Region          317..394
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Site            order(393..394,396..397)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          410..473
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          504..590
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(504,573,588)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          601..632
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15034.3)"
     Region          646..683
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15034.3)"
     Region          714..733
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15034.3)"
     Site            721
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JIR1; propagated from
                     UniProtKB/Swiss-Prot (O15034.3)"
     Site            729
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JIR1; propagated from
                     UniProtKB/Swiss-Prot (O15034.3)"
     Region          784..804
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15034.3)"
     Region          822..846
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15034.3)"
     Site            849
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q80U40; propagated from
                     UniProtKB/Swiss-Prot (O15034.3)"
     Site            856
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q80U40; propagated from
                     UniProtKB/Swiss-Prot (O15034.3)"
     Site            858
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q80U40; propagated from
                     UniProtKB/Swiss-Prot (O15034.3)"
     Region          869..930
                     /region_name="SH3_RIM-BP_2"
                     /note="Second Src homology 3 domain of Rab3-interacting
                     molecules (RIMs) binding proteins; cd12012"
                     /db_xref="CDD:212945"
     Site            order(874,876,879,891,910..911,924,926..927)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212945"
     Region          973..1033
                     /region_name="SH3_RIM-BP_3"
                     /note="Third Src homology 3 domain of Rab3-interacting
                     molecules (RIMs) binding proteins; cd12013"
                     /db_xref="CDD:212946"
     Site            order(978,980,983,994,1013..1014,1027,1029..1030)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212946"
     Region          1046..1069
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15034.3)"
     CDS             1..1069
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /coded_by="NM_001393623.1:457..3666"
                     /note="isoform c is encoded by transcript variant 19"
                     /db_xref="GeneID:23504"
                     /db_xref="HGNC:HGNC:30339"
                     /db_xref="MIM:611602"
ORIGIN      
        1 mreaaerrqq lqlehdqala vlsakqqeid llqkaqveak kehegavrll eskvreleek
       61 crtqseqfnl lsrdlekfrq hagkidllgg savapldist apskpfpqfm nglatslgkg
      121 qesaiggssa igeyirplpq pgdrpeplsa kptflsrsgs arcrsesdme nernsntskq
      181 rysgkvhlcv arysynpfdg pnenpeaelp ltagkylyvy gdmdedgfye gelldgqrgl
      241 vpsnfvdfvq dnesrlastl gneqdqnfin hsgiglegeh ildlhspthi dagitdnsag
      301 tldvniddig edivpyprki tlikqlaksv ivgweppavp pgwgtvssyn vlvdketrmn
      361 ltlgsrtkal ieklnmaact yrisvqcvts rgssdelqct llvgkdvvva pshlrvdnit
      421 qisaqlswlp tnsnyshvif lneeefdivk aarykyqffn lrpnmaykvk vlakphqmpw
      481 qlpleqrekk eafvefstlp agppappqdv tvqagvtpat irvswrppvl tptglsngan
      541 vtgygvyakg qrvaevifpt adstavelvr lrsleakgvt vrtlsaqges vdsavaavpp
      601 ellvpptphp rpapqskpla ssgvpetkde hlgpharmde aweqsrapgp vhghmleppv
      661 gpgrrspsps rilpqpqgtp vsttvakama reaaqrvaes srlekrsvfl erssagqyaa
      721 sdeedaydsp dfkrrgasvd dflkgselgk qphcchgdey htessrgsdl sdimeedeee
      781 lysemqledg grrrpsgtsh nalkilgnpa sagrvdhmgr rfprgsagpq rsrpvtvpsi
      841 ddygrdrlsp dfyeesetdp gaeelparif valfdydplt mspnpdaaee elpfkegqii
      901 kvygdkdadg fyrgetcarl glipcnmvse iqaddeemmd qllrqgflpl ntpvekiers
      961 rrsgrrhsvs trrmvalydy dpresspnvd veaeltfctg diitvfgeid edgfyygeln
     1021 gqkglvpsnf leevpddvev ylsdapshys qdtpmrskak rkksvhftp
//
LOCUS       NP_001362492             347 aa            linear   PRI 22-JAN-2023
DEFINITION  cAMP-dependent protein kinase catalytic subunit beta isoform 16
            [Homo sapiens].
ACCESSION   NP_001362492 XP_005271074
VERSION     NP_001362492.1
DBSOURCE    REFSEQ: accession NM_001375563.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 347)
  AUTHORS   Maimaitiaili Y, Fukumura Y, Hirabayashi K, Kinowaki Y, Naito Y,
            Saito A, Rong L, Nakahodo J and Yao T.
  TITLE     Investigation of -PRKACA/-PRKACB fusion genes in oncocytic tumors
            of the pancreatobiliary and other systems
  JOURNAL   Virchows Arch 481 (6), 865-876 (2022)
   PUBMED   36152045
  REMARK    GeneRIF: Investigation of -PRKACA/-PRKACB fusion genes in oncocytic
            tumors of the pancreatobiliary and other systems.
REFERENCE   2  (residues 1 to 347)
  AUTHORS   Huang Y, Feng L, Bao Y, Zhang Y, Liang J, Mao Q, Li J and Jiang C.
  TITLE     Expressing MLH1 in HCT116 cells increases cellular resistance to
            radiation by activating the PRKAC
  JOURNAL   Exp Biol Med (Maywood) 247 (5), 426-432 (2022)
   PUBMED   34787019
  REMARK    GeneRIF: Expressing MLH1 in HCT116 cells increases cellular
            resistance to radiation by activating the PRKAC.
REFERENCE   3  (residues 1 to 347)
  AUTHORS   Khamse S, Jafarian Z, Bozorgmehr A, Tavakoli M, Afshar H, Keshavarz
            M, Moayedi R and Ohadi M.
  TITLE     Novel implications of a strictly monomorphic (GCC) repeat in the
            human PRKACB gene
  JOURNAL   Sci Rep 11 (1), 20629 (2021)
   PUBMED   34667254
  REMARK    GeneRIF: Novel implications of a strictly monomorphic (GCC) repeat
            in the human PRKACB gene.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 347)
  AUTHORS   Jessulat M, Amin S, Hooshyar M, Malty R, Moutaoufik MT, Zilocchi M,
            Istace Z, Phanse S, Aoki H, Omidi K, Burnside D, Samanfar B, Aly
            KA, Golshani A and Babu M.
  TITLE     The conserved Tpk1 regulates non-homologous end joining
            double-strand break repair by phosphorylation of Nej1, a homolog of
            the human XLF
  JOURNAL   Nucleic Acids Res 49 (14), 8145-8160 (2021)
   PUBMED   34244791
  REMARK    GeneRIF: The conserved Tpk1 regulates non-homologous end joining
            double-strand break repair by phosphorylation of Nej1, a homolog of
            the human XLF.
REFERENCE   5  (residues 1 to 347)
  AUTHORS   Orstavik S, Reinton N, Frengen E, Langeland BT, Jahnsen T and
            Skalhegg BS.
  TITLE     Identification of novel splice variants of the human catalytic
            subunit Cbeta of cAMP-dependent protein kinase
  JOURNAL   Eur J Biochem 268 (19), 5066-5073 (2001)
   PUBMED   11589697
REFERENCE   6  (residues 1 to 347)
  AUTHORS   Hofmann B, Nishanian P, Nguyen T, Insixiengmay P and Fahey JL.
  TITLE     Human immunodeficiency virus proteins induce the inhibitory
            cAMP/protein kinase A pathway in normal lymphocytes
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6676-6680 (1993)
   PUBMED   7688126
REFERENCE   7  (residues 1 to 347)
  AUTHORS   Scarpetta MA and Uhler MD.
  TITLE     Evidence for two additional isoforms of the endogenous protein
            kinase inhibitor of cAMP-dependent protein kinase in mouse
  JOURNAL   J Biol Chem 268 (15), 10927-10931 (1993)
   PUBMED   7684369
REFERENCE   8  (residues 1 to 347)
  AUTHORS   Simard J, Berube D, Sandberg M, Grzeschik KH, Gagne R, Hansson V
            and Jahnsen T.
  TITLE     Assignment of the gene encoding the catalytic subunit C beta of
            cAMP-dependent protein kinase to the p36 band on chromosome 1
  JOURNAL   Hum Genet 88 (6), 653-657 (1992)
   PUBMED   1551670
REFERENCE   9  (residues 1 to 347)
  AUTHORS   Beebe SJ, Oyen O, Sandberg M, Froysa A, Hansson V and Jahnsen T.
  TITLE     Molecular cloning of a tissue-specific protein kinase (C gamma)
            from human testis--representing a third isoform for the catalytic
            subunit of cAMP-dependent protein kinase
  JOURNAL   Mol Endocrinol 4 (3), 465-475 (1990)
   PUBMED   2342480
REFERENCE   10 (residues 1 to 347)
  AUTHORS   Taylor SS, Buechler JA and Yonemoto W.
  TITLE     cAMP-dependent protein kinase: framework for a diverse family of
            regulatory enzymes
  JOURNAL   Annu Rev Biochem 59, 971-1005 (1990)
   PUBMED   2165385
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL450063.14.
            On Oct 29, 2019 this sequence version replaced XP_005271074.1.
            
            Summary: The protein encoded by this gene is a member of the
            serine/threonine protein kinase family. The encoded protein is a
            catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase,
            which mediates signalling though cAMP. cAMP signaling is important
            to a number of processes, including cell proliferaton and
            differentiation. Multiple alternatively spliced transcript variants
            encoding distinct isoforms have been observed. [provided by RefSeq,
            Jul 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.173775.1,
                                           SRR1803617.257066.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..347
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     Protein         1..347
                     /product="cAMP-dependent protein kinase catalytic subunit
                     beta isoform 16"
                     /EC_number="2.7.11.11"
                     /note="protein kinase A catalytic subunit beta; protein
                     kinase, cAMP-dependent, catalytic, beta; protein kinase,
                     cAMP-dependent, beta catalytic subunit"
                     /calculated_mol_wt=40112
     Region          38..327
                     /region_name="STKc_PKA"
                     /note="Catalytic subunit of the Serine/Threonine Kinase,
                     cAMP-dependent protein kinase; cd14209"
                     /db_xref="CDD:271111"
     Site            order(46..52,54,67,69,101,117..120,124,163,165,167..168,
                     170,180..181,324)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271111"
     Site            order(47..52,54,67,69,79,101,117..118,120,124,126,130,163,
                     165..168,170,180..181,184,195,197..200,227,231..233,
                     236..238,240,243,324,327)
                     /site_type="active"
                     /db_xref="CDD:271111"
     Site            order(48,50..51,79..81,124,126,130,163,165..167,184,
                     195..200,227,231..233,236..238,240,243..244,327)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271111"
     Site            order(50,80..81,83..84,124,126,130,165..167,184,191,
                     193..198,201,208..210,227,240..241,244..245,248,327)
                     /site_type="other"
                     /note="regulatory subunit interface [polypeptide binding]"
                     /db_xref="CDD:271111"
     Site            180..200
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271111"
     CDS             1..347
                     /gene="PRKACB"
                     /gene_synonym="CAFD2; PKA C-beta; PKACB"
                     /coded_by="NM_001375563.1:109..1152"
                     /note="isoform 16 is encoded by transcript variant 16"
                     /db_xref="GeneID:5567"
                     /db_xref="HGNC:HGNC:9381"
                     /db_xref="MIM:176892"
ORIGIN      
        1 mglscsssei svkeflakak edflkkwenp tqnnagledf erkktlgtgs fgrvmlvkhk
       61 ateqyyamki ldkqkvvklk qiehtlnekr ilqavnfpfl vrleyafkdn snlymvmeyv
      121 pggemfshlr rigrfsepha rfyaaqivlt feylhsldli yrdlkpenll idhqgyiqvt
      181 dfgfakrvkg rtwtlcgtpe ylapeiilsk gynkavdwwa lgvliyemaa gyppffadqp
      241 iqiyekivsg kvrfpshfss dlkdllrnll qvdltkrfgn lkngvsdikt hkwfattdwi
      301 aiyqrkveap fipkfrgsgd tsnfddyeee dirvsitekc akefgef
//
LOCUS       NP_001269633             492 aa            linear   PRI 12-FEB-2023
DEFINITION  protein disulfide-isomerase A6 isoform a [Homo sapiens].
ACCESSION   NP_001269633 XP_005246200
VERSION     NP_001269633.1
DBSOURCE    REFSEQ: accession NM_001282704.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 492)
  AUTHORS   Huang Y, Yan H, Yang Y, Zhou J, Xu Q and Meng H.
  TITLE     Downregulated miR-181a alleviates H2O2-induced oxidative stress and
            cellular senescence by targeting PDIA6 in human foreskin
            fibroblasts
  JOURNAL   An Bras Dermatol 98 (1), 17-25 (2023)
   PUBMED   36244946
  REMARK    GeneRIF: Downregulated miR-181a alleviates H2O2-induced oxidative
            stress and cellular senescence by targeting PDIA6 in human foreskin
            fibroblasts.
REFERENCE   2  (residues 1 to 492)
  AUTHORS   Mestre-Farras N, Guerrero S, Bley N, Rivero E, Coll O, Borras E,
            Sabido E, Indacochea A, Casillas-Serra C, Jarvelin AI, Oliva B,
            Castello A, Huttelmaier S and Gebauer F.
  TITLE     Melanoma RBPome identification reveals PDIA6 as an unconventional
            RNA-binding protein involved in metastasis
  JOURNAL   Nucleic Acids Res 50 (14), 8207-8225 (2022)
   PUBMED   35848924
  REMARK    GeneRIF: Melanoma RBPome identification reveals PDIA6 as an
            unconventional RNA-binding protein involved in metastasis.
REFERENCE   3  (residues 1 to 492)
  AUTHORS   Huang Y, He P and Ding J.
  TITLE     Protein disulfide isomerase family 6 promotes the
            imatinib-resistance of renal cell carcinoma by regulation of
            Wnt3a-Frizzled1 axis
  JOURNAL   Bioengineered 12 (2), 12157-12166 (2021)
   PUBMED   34781823
  REMARK    GeneRIF: Protein disulfide isomerase family 6 promotes the
            imatinib-resistance of renal cell carcinoma by regulation of
            Wnt3a-Frizzled1 axis.
REFERENCE   4  (residues 1 to 492)
  AUTHORS   Ma Y, Xia P, Wang Z, Xu J, Zhang L and Jiang Y.
  TITLE     PDIA6 promotes pancreatic cancer progression and immune escape
            through CSN5-mediated deubiquitination of beta-catenin and PD-L1
  JOURNAL   Neoplasia 23 (9), 912-928 (2021)
   PUBMED   34325342
  REMARK    GeneRIF: PDIA6 promotes pancreatic cancer progression and immune
            escape through CSN5-mediated deubiquitination of beta-catenin and
            PD-L1.
REFERENCE   5  (residues 1 to 492)
  AUTHORS   Mao L, Wu X, Gong Z, Yu M and Huang Z.
  TITLE     PDIA6 contributes to aerobic glycolysis and cancer progression in
            oral squamous cell carcinoma
  JOURNAL   World J Surg Oncol 19 (1), 88 (2021)
   PUBMED   33761940
  REMARK    GeneRIF: PDIA6 contributes to aerobic glycolysis and cancer
            progression in oral squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 492)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   7  (residues 1 to 492)
  AUTHORS   Basrur V, Yang F, Kushimoto T, Higashimoto Y, Yasumoto K, Valencia
            J, Muller J, Vieira WD, Watabe H, Shabanowitz J, Hearing VJ, Hunt
            DF and Appella E.
  TITLE     Proteomic analysis of early melanosomes: identification of novel
            melanosomal proteins
  JOURNAL   J Proteome Res 2 (1), 69-79 (2003)
   PUBMED   12643545
REFERENCE   8  (residues 1 to 492)
  AUTHORS   Kikuchi M, Doi E, Tsujimoto I, Horibe T and Tsujimoto Y.
  TITLE     Functional analysis of human P5, a protein disulfide isomerase
            homologue
  JOURNAL   J Biochem 132 (3), 451-455 (2002)
   PUBMED   12204115
  REMARK    GeneRIF: observed to have peptide-binding ability, and chaperone
            activity was confirmed with rhodanese and citrate synthase as
            substrates, but not with D-glyceraldehyde-3-phosphate
            dehydrogenase, showing substrate specificity with respect to
            chaperone activity
REFERENCE   9  (residues 1 to 492)
  AUTHORS   Hayano T and Kikuchi M.
  TITLE     Cloning and sequencing of the cDNA encoding human P5
  JOURNAL   Gene 164 (2), 377-378 (1995)
   PUBMED   7590364
REFERENCE   10 (residues 1 to 492)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK127433.1, AC092687.3 and BM511594.1.
            On Sep 18, 2013 this sequence version replaced XP_005246200.1.
            
            Summary: This gene encodes a member of the disulfide isomerase
            (PDI) family of endoplasmic reticulum (ER) proteins that catalyze
            protein folding and thiol-disulfide interchange reactions. The
            encoded protein has an N-terminal ER-signal sequence, two
            catalytically active thioredoxin (TRX) domains, a TRX-like domain,
            and a C-terminal ER-retention sequence. This protein inhibits the
            aggregation of misfolded proteins and exhibits both isomerase and
            chaperone activity. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Dec 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK127433.1, SRR1660807.210655.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..492
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.1"
     Protein         1..492
                     /product="protein disulfide-isomerase A6 isoform a"
                     /EC_number="5.3.4.1"
                     /note="protein disulfide isomerase-associated 6;
                     thioredoxin domain containing 7 (protein disulfide
                     isomerase); protein disulfide isomerase-related protein;
                     endoplasmic reticulum protein 5; protein
                     disulfide-isomerase A6; protein disulfide isomerase P5;
                     thioredoxin domain-containing protein 7; epididymis
                     secretory sperm binding protein; ER protein 5"
                     /calculated_mol_wt=53770
     Region          78..180
                     /region_name="PDI_a_P5"
                     /note="PDIa family, P5 subfamily; composed of eukaryotic
                     proteins similar to human P5, a PDI-related protein with a
                     domain structure of aa'b (where a and a' are redox active
                     TRX domains and b is a redox inactive TRX-like domain).
                     Like PDI, P5 is located in the...; cd03001"
                     /db_xref="CDD:239299"
     Site            order(107,110,170)
                     /site_type="active"
                     /note="catalytic residues [active]"
                     /db_xref="CDD:239299"
     Region          213..318
                     /region_name="PDI_a_P5"
                     /note="PDIa family, P5 subfamily; composed of eukaryotic
                     proteins similar to human P5, a PDI-related protein with a
                     domain structure of aa'b (where a and a' are redox active
                     TRX domains and b is a redox inactive TRX-like domain).
                     Like PDI, P5 is located in the...; cd03001"
                     /db_xref="CDD:239299"
     Site            order(242,245,308)
                     /site_type="active"
                     /note="catalytic residues [active]"
                     /db_xref="CDD:239299"
     Region          327..456
                     /region_name="P5_C"
                     /note="P5 family, C-terminal redox inactive TRX-like
                     domain; P5 is a protein disulfide isomerase (PDI)-related
                     protein with a domain structure of aa'b (where a and a'
                     are redox active TRX domains and b is a redox inactive
                     TRX-like domain). Like PDI, P5 is...; cd02983"
                     /db_xref="CDD:239281"
     CDS             1..492
                     /gene="PDIA6"
                     /gene_synonym="ERP5; P5; TXNDC7"
                     /coded_by="NM_001282704.2:339..1817"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS62854.1"
                     /db_xref="GeneID:10130"
                     /db_xref="HGNC:HGNC:30168"
                     /db_xref="MIM:611099"
ORIGIN      
        1 mrrdlreklv wvcrplapve vpanissdfq pcsptspahs lsrkspimyp sttmanapgl
       61 vsctfflavn glysssddvi eltpsnfnre viqsdslwlv efyapwcghc qrltpewkka
      121 atalkdvvkv gavdadkhhs lggqygvqgf ptikifgsnk nrpedyqggr tgeaivdaal
      181 salrqlvkdr lggrsggyss gkqgrsdsss kkdvieltdd sfdknvldse dvwmvefyap
      241 wcghcknlep ewaaaasevk eqtkgkvkla avdatvnqvl asrygirgfp tikifqkges
      301 pvdydggrtr sdivsraldl fsdnapppel leiinediak rtceehqlcv vavlphildt
      361 gaagrnsyle vllkladkyk kkmwgwlwte agaqseleta lgiggfgypa maainarkmk
      421 fallkgsfse qgineflrel sfgrgstapv gggafptive repwdgrdge lpveddidls
      481 dvelddlgkd el
//
LOCUS       NP_060272                855 aa            linear   PRI 12-MAR-2023
DEFINITION  dynein axonemal assembly factor 5 [Homo sapiens].
ACCESSION   NP_060272 XP_940629 XP_940911 XP_940912 XP_940914 XP_940916
            XP_940917 XP_940918
VERSION     NP_060272.3
DBSOURCE    REFSEQ: accession NM_017802.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 855)
  AUTHORS   Diggle CP, Moore DJ, Mali G, zur Lage P, Ait-Lounis A, Schmidts M,
            Shoemark A, Garcia Munoz A, Halachev MR, Gautier P, Yeyati PL,
            Bonthron DT, Carr IM, Hayward B, Markham AF, Hope JE, von
            Kriegsheim A, Mitchison HM, Jackson IJ, Durand B, Reith W, Sheridan
            E, Jarman AP and Mill P.
  TITLE     HEATR2 plays a conserved role in assembly of the ciliary motile
            apparatus
  JOURNAL   PLoS Genet 10 (9), e1004577 (2014)
   PUBMED   25232951
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 855)
  AUTHORS   Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van
            Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner
            EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody
            SL, Dutcher SK and Ferkol TW.
  TITLE     Whole-exome capture and sequencing identifies HEATR2 mutation as a
            cause of primary ciliary dyskinesia
  JOURNAL   Am J Hum Genet 91 (4), 685-693 (2012)
   PUBMED   23040496
  REMARK    GeneRIF: Identification of HEATR2 contributes to the growing number
            of genes associated with PCD identified in both individuals and
            model organisms and shows that exome sequencing in family studies
            facilitates the discovery of novel disease-causing gene mutations.
REFERENCE   3  (residues 1 to 855)
  AUTHORS   Zhao D, Peng D, Li L, Zhang Q and Zhang C.
  TITLE     Inhibition of G1P3 expression found in the differential display
            study on respiratory syncytial virus infection
  JOURNAL   Virol J 5, 114 (2008)
   PUBMED   18838000
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 855)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   5  (residues 1 to 855)
  AUTHORS   Zariwala,M.A., Knowles,M.R. and Leigh,M.W.
  TITLE     Primary Ciliary Dyskinesia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC144411.2, BC047240.1,
            BM743055.1, AK056233.1, AK098430.1 and CB238804.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 20, 2007 this sequence version replaced NP_060272.2.
            
            Summary: The protein encoded by this gene is essential for the
            preassembly or stability of axonemal dynein arms, and is found only
            in organisms with motile cilia and flagella. Mutations in this gene
            are associated with primary ciliary dyskinesia-18, a disorder
            characterized by abnormalities of motile cilia. Alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Feb 2013].
            
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC047240.1, SRR7346977.1220425.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297440.11/ ENSP00000297440.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..855
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     Protein         1..855
                     /product="dynein axonemal assembly factor 5"
                     /note="HEAT repeat-containing protein 2; HEAT repeat
                     containing 2; dynein assembly factor 5, axonemal"
                     /calculated_mol_wt=93390
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (Q86Y56.4)"
     Region          71..109
                     /region_name="HEAT 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86Y56.4)"
     Region          166..192
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          202..240
                     /region_name="HEAT 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86Y56.4)"
     Site            order(225..226,229,232..233,263..264,267,270..271,274,
                     303..304,307,310..311,314,377..378,381,384..385)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          241..278
                     /region_name="HEAT 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86Y56.4)"
     Region          246..274
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          280..318
                     /region_name="HEAT 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86Y56.4)"
     Region          285..315
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          354..376
                     /region_name="HEAT 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86Y56.4)"
     Region          359..385
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          377..414
                     /region_name="HEAT 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86Y56.4)"
     Region          599..638
                     /region_name="HEAT 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86Y56.4)"
     Region          696..734
                     /region_name="HEAT 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86Y56.4)"
     Region          701..731
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          738..776
                     /region_name="HEAT 9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86Y56.4)"
     Region          740..772
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          783..813
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          784..822
                     /region_name="HEAT 10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86Y56.4)"
     CDS             1..855
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /coded_by="NM_017802.4:23..2590"
                     /db_xref="CCDS:CCDS34580.1"
                     /db_xref="GeneID:54919"
                     /db_xref="HGNC:HGNC:26013"
                     /db_xref="MIM:614864"
ORIGIN      
        1 maalgvaeav aaphpaegae taeavelsra lsrllpglea dskpgrrral ealrraleep
       61 gpaadptafq gpwarlllpr llrclsdpae gcralavhll dlglrraarp rdalprllpa
      121 laarlagpvp arrppeacee lrlalvqllg lavdlcgaal aphlddalra lrcslldpfa
      181 avrrescsca aalaqatpdh fhmqseslig plmqtishqh wkvrvaaiea tgavihfgng
      241 ksvddvlshf aqrlfddvpq vrravasvvg gwllclrdry sffhklipll lsslndevpe
      301 vrqlaaslwe dvglqwqken eedlkdkldf apptpphypp herrpvlgcr elvfrnlski
      361 lpalchditd wvvgtrvksa qllpvlllha edhatqhlev vlrtlfqact deeaavvqsc
      421 trsaelvgtf vspevflkli lstlkktpsa sgllvlasam rgcprealqp hlaaiatela
      481 qahicqasen dlylerlllc vqalvsvche dcgvaslqll dvlltivala gatglrdkaq
      541 etmdslamve gvsscqdlyr khigpllerv tashldwtah spellqfsvi vaqsgpalge
      601 alphvvptlr aclqpsqdpq mrlklfsils tvllratdti nsqgqfpsyl etvtkdilap
      661 nlqwhagrta aairtaavsc lwaltssevl saeqirdvqe tlmpqvlttl eedskmtrli
      721 scriintflk tsggmtdpek liriypellk rlddvsndvr maaastlvtw lqcvkganak
      781 syyqssvqyl yrellvhldd peraiqdail evlkegsglf pdllvretea vihkhrsaty
      841 ceqllqhvqa vpatq
//
LOCUS       NP_001122082            1118 aa            linear   PRI 14-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 8 isoform a [Homo sapiens].
ACCESSION   NP_001122082
VERSION     NP_001122082.1
DBSOURCE    REFSEQ: accession NM_001128610.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1118)
  AUTHORS   Xie F, Zhou X, Li H, Su P, Liu S, Li R, Zou J, Wei X, Pan C, Zhang
            Z, Zheng M, Liu Z, Meng X, Ovaa H, Ten Dijke P, Zhou F and Zhang L.
  TITLE     USP8 promotes cancer progression and extracellular vesicle-mediated
            CD8+ T cell exhaustion by deubiquitinating the TGF-beta receptor
            TbetaRII
  JOURNAL   EMBO J 41 (16), e108791 (2022)
   PUBMED   35811497
  REMARK    GeneRIF: USP8 promotes cancer progression and extracellular
            vesicle-mediated CD8+ T cell exhaustion by deubiquitinating the
            TGF-beta receptor TbetaRII.
REFERENCE   2  (residues 1 to 1118)
  AUTHORS   Albani A, Perez-Rivas LG, Tang S, Simon J, Lucia KE, Colon-Bolea P,
            Schopohl J, Roeber S, Buchfelder M, Rotermund R, Flitsch J,
            Thorsteinsdottir J, Herms J, Stalla G, Reincke M and Theodoropoulou
            M.
  TITLE     Improved pasireotide response in USP8 mutant corticotroph tumours
            in vitro
  JOURNAL   Endocr Relat Cancer 29 (8), 503-511 (2022)
   PUBMED   35686696
  REMARK    GeneRIF: Improved pasireotide response in USP8 mutant corticotroph
            tumours in vitro.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1118)
  AUTHORS   Hatipoglu E, Gunaldi O, Erkan B, Avcikurt A, Mert M and Niyazoglu
            M.
  TITLE     Ubiquitin-specific Protease 8 Gene Expression in Sporadic Pituitary
            Adenomas
  JOURNAL   Neuro Endocrinol Lett 43 (2), 129-133 (2022)
   PUBMED   35981231
  REMARK    GeneRIF: Ubiquitin-specific Protease 8 Gene Expression in Sporadic
            Pituitary Adenomas.
REFERENCE   4  (residues 1 to 1118)
  AUTHORS   Xia R, Jia H, Fan J, Liu Y and Jia J.
  TITLE     USP8 promotes smoothened signaling by preventing its ubiquitination
            and changing its subcellular localization
  JOURNAL   PLoS Biol 10 (1), e1001238 (2012)
   PUBMED   22253573
  REMARK    GeneRIF: USP8 is a positive regulator in Hh signaling by
            down-regulating Smo ubiquitination and thereby mediating Smo
            intracellular trafficking.
REFERENCE   5  (residues 1 to 1118)
  AUTHORS   Wright MH, Berlin I and Nash PD.
  TITLE     Regulation of endocytic sorting by ESCRT-DUB-mediated
            deubiquitination
  JOURNAL   Cell Biochem Biophys 60 (1-2), 39-46 (2011)
   PUBMED   21448666
  REMARK    GeneRIF: Studies indicate that USP8/Ubpy and AMSH interact with
            ESCRT components to modulate the ubiquitination status of receptors
            and relevant sorting proteins.
            Review article
REFERENCE   6  (residues 1 to 1118)
  AUTHORS   Berlin I, Higginbotham KM, Dise RS, Sierra MI and Nash PD.
  TITLE     The deubiquitinating enzyme USP8 promotes trafficking and
            degradation of the chemokine receptor 4 at the sorting endosome
  JOURNAL   J Biol Chem 285 (48), 37895-37908 (2010)
   PUBMED   20876529
  REMARK    GeneRIF: USP8 promotes trafficking and degradation of CXCR4 at the
            sorting endosome.
REFERENCE   7  (residues 1 to 1118)
  AUTHORS   Mizuno E, Kobayashi K, Yamamoto A, Kitamura N and Komada M.
  TITLE     A deubiquitinating enzyme UBPY regulates the level of protein
            ubiquitination on endosomes
  JOURNAL   Traffic 7 (8), 1017-1031 (2006)
   PUBMED   16771824
  REMARK    GeneRIF: UBPY regulates the level of protein ubiquitination on
            endosomes, which is required for maintaining the morphology of the
            organelle
REFERENCE   8  (residues 1 to 1118)
  AUTHORS   Naviglio S, Mattecucci C, Matoskova B, Nagase T, Nomura N, Di Fiore
            PP and Draetta GF.
  TITLE     UBPY: a growth-regulated human ubiquitin isopeptidase
  JOURNAL   EMBO J 17 (12), 3241-3250 (1998)
   PUBMED   9628861
REFERENCE   9  (residues 1 to 1118)
  AUTHORS   Janssen JW, Schleithoff L, Bartram CR and Schulz AS.
  TITLE     An oncogenic fusion product of the phosphatidylinositol 3-kinase
            p85beta subunit and HUMORF8, a putative deubiquitinating enzyme
  JOURNAL   Oncogene 16 (13), 1767-1772 (1998)
   PUBMED   9582025
REFERENCE   10 (residues 1 to 1118)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D29956.1, AC012170.6,
            BM751645.1, AA399951.1, AA399952.1 and AI276208.1.
            
            Summary: This gene encodes a protein that belongs to the
            ubiquitin-specific processing protease family of proteins. The
            encoded protein is thought to regulate the morphology of the
            endosome by ubiquitination of proteins on this organelle and is
            involved in cargo sorting and membrane trafficking at the early
            endosome stage. This protein is required for the cell to enter the
            S phase of the cell cycle and also functions as a positive
            regulator in the Hedgehog signaling pathway in development.
            Pseudogenes of this gene are present on chromosomes 2 and 6.
            Alternate splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2013].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same protein (isoform a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: D29956.1, SRR1803614.132585.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1118
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.2"
     Protein         1..1118
                     /product="ubiquitin carboxyl-terminal hydrolase 8 isoform
                     a"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin carboxyl-terminal hydrolase 8; ubiquitin
                     isopeptidase Y; deubiquitinating enzyme 8;
                     ubiquitin-specific-processing protease 8; ubiquitin
                     thiolesterase 8"
                     /calculated_mol_wt=127393
     Region          6..116
                     /region_name="USP8_dimer"
                     /note="USP8 dimerization domain; pfam08969"
                     /db_xref="CDD:430348"
     Region          120..177
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P40818.1)"
     Site            160
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P40818.1)"
     Region          192..304
                     /region_name="Rhodanese"
                     /note="Rhodanese-like domain; pfam00581"
                     /db_xref="CDD:425764"
     Region          375..>547
                     /region_name="tolA_full"
                     /note="TolA protein; TIGR02794"
                     /db_xref="CDD:274303"
     Site            392
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P40818.1)"
     Site            400
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P40818.1)"
     Region          402..447
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P40818.1)"
     Region          405..413
                     /region_name="SH3-binding. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P40818.1)"
     Site            452
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P40818.1)"
     Region          475..648
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P40818.1)"
     Site            577
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P40818.1)"
     Region          679..746
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P40818.1)"
     Site            718
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P40818.1)"
     Site            719
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P40818.1)"
     Region          777..1106
                     /region_name="UCH"
                     /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443"
                     /db_xref="CDD:425685"
     Site            945
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q80U87; propagated from
                     UniProtKB/Swiss-Prot (P40818.1)"
     CDS             1..1118
                     /gene="USP8"
                     /gene_synonym="HumORF8; PITA4; SPG59; UBPY"
                     /coded_by="NM_001128610.3:316..3672"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS10137.1"
                     /db_xref="GeneID:9101"
                     /db_xref="HGNC:HGNC:12631"
                     /db_xref="MIM:603158"
ORIGIN      
        1 mpavasvpke lylssslkdl nkktevkpek istksyvhsa lkifktaeec rldrdeeray
       61 vlymkyvtvy nlikkrpdfk qqqdyfhsil gpgnikkave eaerlseslk lryeeaevrk
      121 kleekdrqee aqrlqqkrqe tgredggtla kgslenvlds kdktqksnge knekcetkek
      181 gaitakelyt mmtdknisli imdarrmqdy qdscilhsls vpeeaispgv taswieahlp
      241 ddskdtwkkr gnveyvvlld wfssakdlqi gttlrslkda lfkwesktvl rneplvlegg
      301 yenwllcypq yttnakvtpp prrqneevsi sldftypsle esipskpaaq tppasievde
      361 nielisgqne rmgplnistp vepvaasksd vspiiqpvps iknvpqidrt kkpavklpee
      421 hriksestnh eqqspqsgkv ipdrstkpvv fsptlmltde ekarihaeta llmeknkqek
      481 elrerqqeeq keklrkeeqe qkakkkqeae eneitekqqk akeemekkes eqakkedket
      541 sakrgkeitg vkrqsksehe tsdakksved rgkrcptpei qkkstgdvph tsvtgdsgsg
      601 kpfkikgqpe sgilrtgtfr edtddternk aqrepltrar seemgrivpg lpsgwakfld
      661 pitgtfryyh sptntvhmyp pemapssapp stppthkakp qipaerdrep sklkrsyssp
      721 ditqaiqeee krkptvtptv nrenkptcyp kaeisrlsas qirnlnpvfg gsgpaltglr
      781 nlgntcymns ilqclcnaph ladyfnrncy qddinrsnll ghkgevaeef giimkalwtg
      841 qyryispkdf kitigkindq fagysqqdsq elllflmdgl hedlnkadnr krykeenndh
      901 lddfkaaeha wqkhkqlnes iivalfqgqf kstvqcltch kksrtfeafm ylslplasts
      961 kctlqdclrl fskeekltdn nrfycshcra rrdslkkiei wklppvllvh lkrfsydgrw
     1021 kqklqtsvdf plenldlsqy vigpknnlkk ynlfsvsnhy ggldgghyta ycknaarqrw
     1081 fkfddhevsd isvssvkssa ayilfytslg prvtdvat
//
LOCUS       NP_056138                794 aa            linear   PRI 14-MAR-2023
DEFINITION  E3 UFM1-protein ligase 1 [Homo sapiens].
ACCESSION   NP_056138
VERSION     NP_056138.1
DBSOURCE    REFSEQ: accession NM_015323.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 794)
  AUTHORS   Li J, Tang X, Tu X, Jin Z, Dong H, Yang Q, Yao T and Pan Z.
  TITLE     UFL1 alleviates ER stress and apoptosis stimulated by LPS via
            blocking the ferroptosis pathway in human granulosa-like cells
  JOURNAL   Cell Stress Chaperones 27 (5), 485-497 (2022)
   PUBMED   35729487
  REMARK    GeneRIF: UFL1 alleviates ER stress and apoptosis stimulated by LPS
            via blocking the ferroptosis pathway in human granulosa-like cells.
REFERENCE   2  (residues 1 to 794)
  AUTHORS   Tang X, Dong H, Fang Z, Li J, Yang Q, Yao T and Pan Z.
  TITLE     Ubiquitin-like modifier 1 ligating enzyme 1 relieves
            cisplatin-induced premature ovarian failure by reducing endoplasmic
            reticulum stress in granulosa cells
  JOURNAL   Reprod Biol Endocrinol 20 (1), 84 (2022)
   PUBMED   35610622
  REMARK    GeneRIF: Ubiquitin-like modifier 1 ligating enzyme 1 relieves
            cisplatin-induced premature ovarian failure by reducing endoplasmic
            reticulum stress in granulosa cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 794)
  AUTHORS   Snider DL, Park M, Murphy KA, Beachboard DC and Horner SM.
  TITLE     Signaling from the RNA sensor RIG-I is regulated by ufmylation
  JOURNAL   Proc Natl Acad Sci U S A 119 (15), e2119531119 (2022)
   PUBMED   35394863
  REMARK    GeneRIF: Signaling from the RNA sensor RIG-I is regulated by
            ufmylation.
REFERENCE   4  (residues 1 to 794)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 794)
  AUTHORS   Liang JR, Lingeman E, Luong T, Ahmed S, Muhar M, Nguyen T, Olzmann
            JA and Corn JE.
  TITLE     A Genome-wide ER-phagy Screen Highlights Key Roles of Mitochondrial
            Metabolism and ER-Resident UFMylation
  JOURNAL   Cell 180 (6), 1160-1177 (2020)
   PUBMED   32160526
REFERENCE   6  (residues 1 to 794)
  AUTHORS   Kwon J, Cho HJ, Han SH, No JG, Kwon JY and Kim H.
  TITLE     A novel LZAP-binding protein, NLBP, inhibits cell invasion
  JOURNAL   J Biol Chem 285 (16), 12232-12240 (2010)
   PUBMED   20164180
REFERENCE   7  (residues 1 to 794)
  AUTHORS   Tatsumi K, Sou YS, Tada N, Nakamura E, Iemura S, Natsume T, Kang
            SH, Chung CH, Kasahara M, Kominami E, Yamamoto M, Tanaka K and
            Komatsu M.
  TITLE     A novel type of E3 ligase for the Ufm1 conjugation system
  JOURNAL   J Biol Chem 285 (8), 5417-5427 (2010)
   PUBMED   20018847
REFERENCE   8  (residues 1 to 794)
  AUTHORS   Foster LJ, Zeemann PA, Li C, Mann M, Jensen ON and Kassem M.
  TITLE     Differential expression profiling of membrane proteins by
            quantitative proteomics in a human mesenchymal stem cell line
            undergoing osteoblast differentiation
  JOURNAL   Stem Cells 23 (9), 1367-1377 (2005)
   PUBMED   16210410
REFERENCE   9  (residues 1 to 794)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   10 (residues 1 to 794)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD,
            Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker
            DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP,
            Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY,
            Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman
            LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M,
            Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD,
            Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ,
            Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S,
            Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL,
            Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL,
            Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson
            CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK,
            Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR,
            Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M,
            Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A,
            Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K,
            Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore
            B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM,
            Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith
            M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G,
            Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A,
            Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL,
            Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt
            JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard
            T, Sulston JE, Dunham I, Rogers J and Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590404.5, BP337693.1, AB018319.1 and BC028608.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC036379.2, SRR1660803.203761.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369278.5/ ENSP00000358283.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..794
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q16.1"
     Protein         1..794
                     /product="E3 UFM1-protein ligase 1"
                     /note="novel LZAP-binding protein; Regulator of CDK5RAP3
                     and DDRGK1; regulator of C53/LZAP and DDRGK1; E3
                     UFM1-protein transferase 1; multiple alpha-helix protein
                     located at ER"
                     /calculated_mol_wt=89464
     Region          2..212
                     /region_name="Required for E3 UFM1-protein ligase
                     activity. /evidence=ECO:0000269|PubMed:20018847"
                     /note="propagated from UniProtKB/Swiss-Prot (O94874.2)"
     Region          2..200
                     /region_name="Mediates interaction with DDRGK1.
                     /evidence=ECO:0000269|PubMed:25219498"
                     /note="propagated from UniProtKB/Swiss-Prot (O94874.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (O94874.2)"
     Region          7..284
                     /region_name="E3_UFM1_ligase"
                     /note="E3 UFM1-protein ligase 1; pfam09743"
                     /db_xref="CDD:430794"
     Region          121..250
                     /region_name="Involved in CDK5RAP3-binding.
                     /evidence=ECO:0000269|PubMed:20164180"
                     /note="propagated from UniProtKB/Swiss-Prot (O94874.2)"
     Region          200..400
                     /region_name="Mediates interaction with TRIP4.
                     /evidence=ECO:0000269|PubMed:25219498"
                     /note="propagated from UniProtKB/Swiss-Prot (O94874.2)"
     Region          407..473
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94874.2)"
     Site            433
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8CCJ3; propagated from
                     UniProtKB/Swiss-Prot (O94874.2)"
     Site            458
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18318008, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O94874.2)"
     Site            462
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM.
                     /evidence=ECO:0000269|PubMed:30886146; propagated from
                     UniProtKB/Swiss-Prot (O94874.2)"
     Region          490..684
                     /region_name="Mediates interaction with CDK5RAP3.
                     /evidence=ECO:0000250|UniProtKB:B2GV24"
                     /note="propagated from UniProtKB/Swiss-Prot (O94874.2)"
     Region          745..770
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94874.2)"
     CDS             1..794
                     /gene="UFL1"
                     /gene_synonym="KIAA0776; Maxer; NLBP; RCAD"
                     /coded_by="NM_015323.5:69..2453"
                     /db_xref="CCDS:CCDS5034.1"
                     /db_xref="GeneID:23376"
                     /db_xref="HGNC:HGNC:23039"
                     /db_xref="MIM:613372"
ORIGIN      
        1 madaweeirr laadfqraqf aeatqrlser ncieivnkli aqkqlevvht ldgkeyitpa
       61 qiskemrdel hvrggrvniv dlqqvinvdl ihienrigdi iksekhvqlv lgqlidenyl
      121 drlaeevndk lqesgqvtis elcktydlpg nfltqaltqr lgriisghid ldnrgvifte
      181 afvarhkari rglfsaitrp tavnslisky gfqeqllysv leelvnsgrl rgtvvggrqd
      241 kavfvpdiys rtqstwvdsf frqngylefd alsrlgipda vsyikkrykt tqllflkaac
      301 vgqglvdqve asveeaissg twvdiapllp tslsvedaai llqqvmrafs kqastvvfsd
      361 tvvvsekfin dctelfrelm hqkaekemkn npvhliteed lkqistlesv stskkdkkde
      421 rrrkategsg smrgggggna reykikkvkk kgrkdddsdd esqsshtgkk kpeisfmfqd
      481 eiedflrkhi qdapeefise laeylikpln ktylevvrsv fmssttsasg tgrkrtikdl
      541 qeevsnlynn irlfekgmkf faddtqaalt khllksvctd itnlifnfla sdlmmavddp
      601 aaitseirkk ilsklseetk valtklhnsl neksiedfis cldsaaeacd imvkrgdkkr
      661 erqilfqhrq alaeqlkvte dpalilhlts vllfqfsths mlhapgrcvp qiiaflnski
      721 pedqhallvk yqglvvkqlv sqskktgqgd yplnneldke qedvasttrk elqelsssik
      781 dlvlksrkss vtee
//
LOCUS       NP_001153891             248 aa            linear   PRI 14-MAR-2023
DEFINITION  Z-DNA-binding protein 1 isoform d [Homo sapiens].
ACCESSION   NP_001153891
VERSION     NP_001153891.1
DBSOURCE    REFSEQ: accession NM_001160419.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 248)
  AUTHORS   Karki R and Kanneganti TD.
  TITLE     ADAR1 and ZBP1 in innate immunity, cell death, and disease
  JOURNAL   Trends Immunol 44 (3), 201-216 (2023)
   PUBMED   36710220
  REMARK    GeneRIF: ADAR1 and ZBP1 in innate immunity, cell death, and
            disease.
            Review article
REFERENCE   2  (residues 1 to 248)
  AUTHORS   Nassour J, Aguiar LG, Correia A, Schmidt TT, Mainz L, Przetocka S,
            Haggblom C, Tadepalle N, Williams A, Shokhirev MN, Akincilar SC,
            Tergaonkar V, Shadel GS and Karlseder J.
  TITLE     Telomere-to-mitochondria signalling by ZBP1 mediates replicative
            crisis
  JOURNAL   Nature 614 (7949), 767-773 (2023)
   PUBMED   36755096
  REMARK    GeneRIF: Telomere-to-mitochondria signalling by ZBP1 mediates
            replicative crisis.
REFERENCE   3  (residues 1 to 248)
  AUTHORS   Chen XY, Dai YH, Wan XX, Hu XM, Zhao WJ, Ban XX, Wan H, Huang K,
            Zhang Q and Xiong K.
  TITLE     ZBP1-Mediated Necroptosis: Mechanisms and Therapeutic Implications
  JOURNAL   Molecules 28 (1), 52 (2022)
   PUBMED   36615244
  REMARK    GeneRIF: ZBP1-Mediated Necroptosis: Mechanisms and Therapeutic
            Implications.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 248)
  AUTHORS   Liu H, Liu Y, Fan W and Fan B.
  TITLE     Fusobacterium nucleatum triggers proinflammatory cell death via
            Z-DNA binding protein 1 in apical periodontitis
  JOURNAL   Cell Commun Signal 20 (1), 196 (2022)
   PUBMED   36539813
  REMARK    GeneRIF: Fusobacterium nucleatum triggers proinflammatory cell
            death via Z-DNA binding protein 1 in apical periodontitis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 248)
  AUTHORS   Ha SC, Kim D, Hwang HY, Rich A, Kim YG and Kim KK.
  TITLE     The crystal structure of the second Z-DNA binding domain of human
            DAI (ZBP1) in complex with Z-DNA reveals an unusual binding mode to
            Z-DNA
  JOURNAL   Proc Natl Acad Sci U S A 105 (52), 20671-20676 (2008)
   PUBMED   19095800
  REMARK    GeneRIF: binding 2 DAIs to 1 dsDNA brings about dimerization of DAI
            that might facilitate DNA-mediated innate immune activation.
REFERENCE   6  (residues 1 to 248)
  AUTHORS   Pham HT, Park MY, Kim KK, Kim YG and Ahn JH.
  TITLE     Intracellular localization of human ZBP1: Differential regulation
            by the Z-DNA binding domain, Zalpha, in splice variants
  JOURNAL   Biochem Biophys Res Commun 348 (1), 145-152 (2006)
   PUBMED   16876127
REFERENCE   7  (residues 1 to 248)
  AUTHORS   Ha SC, Van Quyen D, Hwang HY, Oh DB, Brown BA 2nd, Lee SM, Park HJ,
            Ahn JH, Kim KK and Kim YG.
  TITLE     Biochemical characterization and preliminary X-ray crystallographic
            study of the domains of human ZBP1 bound to left-handed Z-DNA
  JOURNAL   Biochim Biophys Acta 1764 (2), 320-323 (2006)
   PUBMED   16448869
  REMARK    GeneRIF: Z-DNA binding activities of two Zalpha domains in the
            human ZBP1, hZalpha(ZBP1) and hZbeta(ZBP1)were characterized.
REFERENCE   8  (residues 1 to 248)
  AUTHORS   Rothenburg S, Schwartz T, Koch-Nolte F and Haag F.
  TITLE     Complex regulation of the human gene for the Z-DNA binding protein
            DLM-1
  JOURNAL   Nucleic Acids Res 30 (4), 993-1000 (2002)
   PUBMED   11842111
  REMARK    GeneRIF: molecular cloning and structure analysis
REFERENCE   9  (residues 1 to 248)
  AUTHORS   Schwartz T, Behlke J, Lowenhaupt K, Heinemann U and Rich A.
  TITLE     Structure of the DLM-1-Z-DNA complex reveals a conserved family of
            Z-DNA-binding proteins
  JOURNAL   Nat Struct Biol 8 (9), 761-765 (2001)
   PUBMED   11524677
REFERENCE   10 (residues 1 to 248)
  AUTHORS   Schwartz T, Rould MA, Lowenhaupt K, Herbert A and Rich A.
  TITLE     Crystal structure of the Zalpha domain of the human editing enzyme
            ADAR1 bound to left-handed Z-DNA
  JOURNAL   Science 284 (5421), 1841-1845 (1999)
   PUBMED   10364558
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA676308.1, CT002036.1 and
            AI659939.1.
            
            Summary: This gene encodes a Z-DNA binding protein. The encoded
            protein plays a role in the innate immune response by binding to
            foreign DNA and inducing type-I interferon production.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Dec
            2011].
            
            Transcript Variant: This variant (4) differs in the 3' coding
            region and 3' UTR, compared to variant 1. The encoded isoform (d)
            is shorter and has a distinct C-terminus compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CT002036.1, DA924291.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..248
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.31"
     Protein         1..248
                     /product="Z-DNA-binding protein 1 isoform d"
                     /note="tumor stroma and activated macrophage protein
                     DLM-1; DNA-dependent activator of IRFs"
                     /calculated_mol_wt=27087
     Region          14..66
                     /region_name="z-alpha"
                     /note="Adenosine deaminase z-alpha domain; cl02659"
                     /db_xref="CDD:295419"
     Region          68..107
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H171.2)"
     Region          110..>153
                     /region_name="z-alpha"
                     /note="Adenosine deaminase z-alpha domain; cl02659"
                     /db_xref="CDD:295419"
     Region          195..219
                     /region_name="RIP homotypic interaction motif (RHIM) 1.
                     /evidence=ECO:0000250|UniProtKB:Q9QY24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H171.2)"
     CDS             1..248
                     /gene="ZBP1"
                     /gene_synonym="C20orf183; DAI; DLM-1; DLM1"
                     /coded_by="NM_001160419.3:132..878"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS54478.1"
                     /db_xref="GeneID:81030"
                     /db_xref="HGNC:HGNC:16176"
                     /db_xref="MIM:606750"
ORIGIN      
        1 maqapadpgr eghleqrilq vlteagspvk laqlvkecqa pkrelnqvly rmkkelkvsl
       61 tspatwclgg tdpegegpae lalsspaerp qqhaatipet pgpqfsqqre ediyrflkdn
      121 gpqralviaq algmrtakdv nrdlyrmksr hlldmdeqsk awtiyrpeds grraksasii
      181 yqhnpinmic qngpnswisi anseaiqigh gniitrqtvs redgkspkra qggdlggepp
      241 dplgggkg
//
LOCUS       NP_001269606            1226 aa            linear   PRI 15-MAR-2023
DEFINITION  peroxisomal ATPase PEX1 isoform 2 [Homo sapiens].
ACCESSION   NP_001269606 XP_005250487
VERSION     NP_001269606.1
DBSOURCE    REFSEQ: accession NM_001282677.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1226)
  AUTHORS   Ott J, Sehr J, Schmidt N, Schliebs W and Erdmann R.
  TITLE     Comparison of human PEX knockout cell lines suggests a dual role of
            PEX1 in peroxisome biogenesis
  JOURNAL   Biol Chem 404 (2-3), 209-219 (2022)
   PUBMED   36534601
  REMARK    GeneRIF: Comparison of human PEX knockout cell lines suggests a
            dual role of PEX1 in peroxisome biogenesis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1226)
  AUTHORS   Herijgers D, Denayer E, Balikova I, Witters P, Jacob J and Casteels
            I.
  TITLE     Two siblings with Heimler syndrome caused by PEX1 variants:
            follow-up of ophthalmologic findings
  JOURNAL   Ophthalmic Genet 42 (4), 480-485 (2021)
   PUBMED   33955814
  REMARK    GeneRIF: Two siblings with Heimler syndrome caused by PEX1
            variants: follow-up of ophthalmologic findings.
REFERENCE   3  (residues 1 to 1226)
  AUTHORS   Park NY, Jo DS, Park SJ, Lee H, Bae JE, Hong Y, Kim JB, Kim YH,
            Park HJ, Choi JY, Lee HJ, Ryoo ZY, Lee HS, Kim JC, Lee EK and Cho
            DH.
  TITLE     Depletion of HNRNPA1 induces peroxisomal autophagy by regulating
            PEX1 expression
  JOURNAL   Biochem Biophys Res Commun 545, 69-74 (2021)
   PUBMED   33545634
  REMARK    GeneRIF: Depletion of HNRNPA1 induces peroxisomal autophagy by
            regulating PEX1 expression.
REFERENCE   4  (residues 1 to 1226)
  AUTHORS   Daich Varela M, Jani P, Zein WM, D'Souza P, Wolfe L, Chisholm J,
            Zalewski C, Adams D, Warner BM, Huryn LA and Hufnagel RB.
  TITLE     The peroxisomal disorder spectrum and Heimler syndrome: Deep
            phenotyping and review of the literature
  JOURNAL   Am J Med Genet C Semin Med Genet 184 (3), 618-630 (2020)
   PUBMED   32866347
  REMARK    GeneRIF: The peroxisomal disorder spectrum and Heimler syndrome:
            Deep phenotyping and review of the literature.
REFERENCE   5  (residues 1 to 1226)
  AUTHORS   Faber KN, Heyman JA and Subramani S.
  TITLE     Two AAA family peroxins, PpPex1p and PpPex6p, interact with each
            other in an ATP-dependent manner and are associated with different
            subcellular membranous structures distinct from peroxisomes
  JOURNAL   Mol Cell Biol 18 (2), 936-943 (1998)
   PUBMED   9447990
REFERENCE   6  (residues 1 to 1226)
  AUTHORS   Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau WH and
            Dodt G.
  TITLE     Human PEX1 is mutated in complementation group 1 of the peroxisome
            biogenesis disorders
  JOURNAL   Nat Genet 17 (4), 449-452 (1997)
   PUBMED   9398848
REFERENCE   7  (residues 1 to 1226)
  AUTHORS   Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R,
            Moser HW, Valle D and Gould SJ.
  TITLE     Mutations in PEX1 are the most common cause of peroxisome
            biogenesis disorders
  JOURNAL   Nat Genet 17 (4), 445-448 (1997)
   PUBMED   9398847
REFERENCE   8  (residues 1 to 1226)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   9  (residues 1 to 1226)
  AUTHORS   Steinberg,S.J., Raymond,G.V., Braverman,N.E. and Moser,A.B.
  TITLE     Zellweger Spectrum Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301621
REFERENCE   10 (residues 1 to 1226)
  AUTHORS   Naritomi K, Izumikawa Y, Ohshiro S, Yoshida K, Shimozawa N, Suzuki
            Y, Orii T and Hirayama K.
  TITLE     Gene assignment of Zellweger syndrome to 7q11.23: report of the
            second case associated with a pericentric inversion of chromosome 7
  JOURNAL   Hum Genet 84 (1), 79-80 (1989)
   PUBMED   2606480
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA313282.1, AB052090.1,
            DB461678.1 and BC035575.1.
            On Sep 18, 2013 this sequence version replaced XP_005250487.1.
            
            Summary: This gene encodes a member of the AAA ATPase family, a
            large group of ATPases associated with diverse cellular activities.
            This protein is cytoplasmic but is often anchored to a peroxisomal
            membrane where it forms a heteromeric complex and plays a role in
            the import of proteins into peroxisomes and peroxisome biogenesis.
            Mutations in this gene have been associated with complementation
            group 1 peroxisomal disorders such as neonatal
            adrenoleukodystrophy, infantile Refsum disease, and Zellweger
            syndrome. Alternatively spliced transcript variants have been found
            for this gene. [provided by RefSeq, Sep 2013].
            
            Transcript Variant: This variant (2) is missing an in-frame coding
            exon compared to variant 1. The resulting shorter isoform (2) lacks
            an internal protein segment compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB052090.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1226
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.2"
     Protein         1..1226
                     /product="peroxisomal ATPase PEX1 isoform 2"
                     /note="peroxisome biogenesis disorder protein 1;
                     peroxin-1; Zellweger syndrome; peroxisomal ATPase PEX1"
                     /calculated_mol_wt=136454
     Region          17..98
                     /region_name="PEX-2N"
                     /note="Peroxisome biogenesis factor 1, N-terminal;
                     pfam09263"
                     /db_xref="CDD:430490"
     Region          104..179
                     /region_name="PEX-1N"
                     /note="Peroxisome biogenesis factor 1, N-terminal;
                     pfam09262"
                     /db_xref="CDD:430489"
     Region          <595..1008
                     /region_name="CDC48"
                     /note="AAA family ATPase, CDC48 subfamily; TIGR01243"
                     /db_xref="CDD:273521"
     Region          791..948
                     /region_name="RecA-like_PEX1_r2"
                     /note="second of two ATPase domains of Peroxisomal
                     biogenesis factor 1 (PEX1); cd19526"
                     /db_xref="CDD:410934"
     Site            order(825..832,927)
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:410934"
     CDS             1..1226
                     /gene="PEX1"
                     /gene_synonym="HMLR1; PBD1A; PBD1B; ZWS; ZWS1"
                     /coded_by="NM_001282677.2:86..3766"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS64710.1"
                     /db_xref="GeneID:5189"
                     /db_xref="HGNC:HGNC:8850"
                     /db_xref="MIM:602136"
ORIGIN      
        1 mwgsdrlaga ggggaavtva ftnardcflh lprrlvaqlh llqnqaievv wshqpaflsw
       61 vegrhfsdqg envaeinrqv gqklglsngg qvflkpcshv vscqqvevep lsaddweile
      121 lhavsleqhl ldqirivfpk aifpvwvdqq tyifiqival ipaasygrle tdtklliqpk
      181 trrakentfs kadaeykklh sygrdqkgmm kelqtkqlqs ntvgitesne neseipvdss
      241 svaslwtmig sifsfqsekk qetswgltei nafknmqskv vpldnifrvc ksqppsiyna
      301 satsvfhkhc aihvfpwdqe yfdvepsftv tygklvklls pkqqqsktkq nvlspekekq
      361 msepldqkki rsdhneedek acvlqvvwng leelnnaiky tknvevlhlg kvwipddlrk
      421 rlniemhavv ritpvevtpk iprslklqpr enlpkdisee diktvfyswl qqstttmlpl
      481 viseeefikl etkdglkefs lsivhsweke kdknifllsp nllqkttiqv lldpmvkeen
      541 seeidfilpf lklsslggvn slgvsslehi thsllgrpls rqlmslvagl rngallltgg
      601 kgsgkstlak aickeafdkl dahvervdck alralndmik efismgslva liatsqsqqs
      661 lhpllvsaqg vhifqcvqhi qppnqeqrce ilcnviknkl dcdinkftdl dlqhvaketg
      721 gfvardftvl vdraihsrls rqsistrekl vlttldfqka lrgflpaslr svnlhkprdl
      781 gwdkigglhe vrqilmdtiq lpakypelfa nlpirqrtgi llygppgtgk tllagviare
      841 srmnfisvkg pellskyiga seqavrdifi raqaakpcil ffdefesiap rrghdntgvt
      901 drvvnqlltq ldgveglqgv yvlaatsrpd lidpallrpg rldkcvycpp pdqvsrleil
      961 nvlsdslpla ddvdlqhvas vtdsftgadl kallynaqle alhgmllssg lqdgssssds
     1021 dlslssmvfl nhssgsddsa gdgecgldqs lvslemseil pdeskfnmyr lyfgssyese
     1081 lgngtssdls sqclsapssm tqdlpgvpgk dqlfsqppvl rtasqegcqe ltqeqrdqlr
     1141 adisiikgry rsqsgedesm nqpgpiktrl aisqshlmta lghtrpsise ddwknfaely
     1201 esfqnpkrrk nqsgtmfrpg qkvtla
//
LOCUS       XP_047300597             185 aa            linear   PRI 20-MAR-2023
DEFINITION  tudor domain-containing protein 10 isoform X10 [Homo sapiens].
ACCESSION   XP_047300597
VERSION     XP_047300597.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444641.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..185
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..185
                     /product="tudor domain-containing protein 10 isoform X10"
                     /calculated_mol_wt=21007
     Region          9..147
                     /region_name="Tudor_TDRD10"
                     /note="Tudor domain found in Tudor domain-containing
                     protein 10 (TDRD10) and similar proteins; cd20432"
                     /db_xref="CDD:410503"
     Site            order(89,99,115,118,120)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410503"
     CDS             1..185
                     /gene="TDRD10"
                     /coded_by="XM_047444641.1:327..884"
                     /db_xref="GeneID:126668"
                     /db_xref="HGNC:HGNC:25316"
ORIGIN      
        1 mrgsflvlll recfrdlswl alihsvrgea gllvtsivpk tpffwamhvt ealhqnmqal
       61 fstlaqaeeq qpylegstvm rgtrclaeyh lgdyghawnr cwvldrvdtw avvmfidfgq
      121 latipvqslr sldsddfwti ppltqpfmle kdilssyevv hrilkgkitg alnsalhilk
      181 feesk
//
LOCUS       XP_011507600            1245 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 6 isoform X7
            [Homo sapiens].
ACCESSION   XP_011507600
VERSION     XP_011507600.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011509298.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1245
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1245
                     /product="pleckstrin homology domain-containing family A
                     member 6 isoform X7"
                     /calculated_mol_wt=139169
     Region          106..229
                     /region_name="PH_PEPP1_2_3"
                     /note="Phosphoinositol 3-phosphate binding proteins 1, 2,
                     and 3 pleckstrin homology (PH) domain; cd13248"
                     /db_xref="CDD:270068"
     Site            order(120,122..123,130,132,143,206)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:270068"
     Region          <228..625
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          313..>488
                     /region_name="dnaA"
                     /note="chromosomal replication initiator protein DnaA;
                     cl42516"
                     /db_xref="CDD:455861"
     Region          <616..>827
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1245
                     /gene="PLEKHA6"
                     /gene_synonym="PEPP-3; PEPP3"
                     /coded_by="XM_011509298.4:43..3780"
                     /db_xref="GeneID:22874"
                     /db_xref="HGNC:HGNC:17053"
                     /db_xref="MIM:607771"
ORIGIN      
        1 mppaqpspls lvglgkpekg shnerrntfl hpvtgqvpee nkkfdlkist ldmsnktggk
       61 rpattnsdip nhnmvsevpp erpsvratrt arkavafgkr shsmkrnpna pvtkagwlfk
      121 qassgvkqwn krwfvlvdrc lfyykdekee silgsiplls frvaavqpsd nisrkhtfkv
      181 tvcwvdeaea sstrclspqa ehagvrtyff saespeeqea wiqamgeaar vqippaqksv
      241 pqavrhshek pdsenvppsk hhqqpphnsl pkpepeaktr gegdgrgcek aerrperpev
      301 kkeppvkang lpagpepase pgspypegpr vpgggeqpaq pngwqyhsps rpgstafpsq
      361 dgetgghrrs fpprtnpdki aqrkssmnql qqwvnlrrgv pppedlrsps rfypvsrrvp
      421 eyygpyssqy pddyqyyppg vrpesicsmp aydrisppwa ledkrhafrn gggpayqlre
      481 wkepasygrq datvwipsps rqpvyydeld aassslrrls lqprshsvpr spsqgsysra
      541 riyspvrsps arferlpprs ediyadpaay vmrrsisspk ydylgdrrpv paglfpynyp
      601 psptvhdkmd elldlqlqrn leyldqqmse setlismvnr mvenssprsq lfmqvppype
      661 vfrdslhtyk lneqdtdkll gklceqnkvv reqdrlvqql raekeslesa lmgthqelem
      721 fgsqpaypek lrhkkdslqn qlinirvels qattaltnst ieyehlesev salhddlweq
      781 lnldtqnevl nrqiqkeiwr iqdvmeglrk nnpsrgtdta khrgglgpsa tyssnspasp
      841 lssasltspl spfslvsgsq gsptkpgsne epgpprpplp kayvplespp avpplpsesr
      901 fwpypsspsw hrsgetargq pkanyeqskk dphqtlpldt prdislvptr qeveaekqaa
      961 lnkvgvvppr tksptddevt psavvrrnas gltnglssqq erpksavfpg egkvkmsvee
     1021 qidrmrrhqs gsmrekrrsl qlpaspapdp sprpaykvvr rhrsihevdi snleaalrae
     1081 epgghayetp reeiarlrkm elepqhydvd inkelstpdk vliperyidl epdtplspee
     1141 lkekqkkver iktliakssm qnvvpigegd svdvpqdses qlqeqekrie iscalateas
     1201 rrgrmlsvqc atpspptspa spappanpls sesprgadss ytmrv
//
LOCUS       XP_005245843             872 aa            linear   PRI 20-MAR-2023
DEFINITION  lysine-specific histone demethylase 1A isoform X1 [Homo sapiens].
ACCESSION   XP_005245843
VERSION     XP_005245843.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005245786.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..872
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..872
                     /product="lysine-specific histone demethylase 1A isoform
                     X1"
                     /calculated_mol_wt=94581
     Region          <23..>98
                     /region_name="PHA03378"
                     /note="EBNA-3B; Provisional"
                     /db_xref="CDD:223065"
     Region          203..845
                     /region_name="PLN02328"
                     /note="lysine-specific histone demethylase 1 homolog"
                     /db_xref="CDD:215187"
     CDS             1..872
                     /gene="KDM1A"
                     /gene_synonym="AOF2; BHC110; CPRF; KDM1; LSD1"
                     /coded_by="XM_005245786.3:130..2748"
                     /db_xref="GeneID:23028"
                     /db_xref="HGNC:HGNC:29079"
                     /db_xref="MIM:609132"
ORIGIN      
        1 mlsgkkaaaa aaaaaaaatg teagpgtagg sengsevaaq paglsgpaev gpgavgertp
       61 rkkepprasp pgglaeppgs agpqagptvv pgsatpmetg iaetpegrrt srrkrakvey
      121 remdeslanl sedeyyseee rnakaekekk lpppppqapp eeenesepee psgqagglqd
      181 dssggygdgq asgvegaafq srlphdrmts qeaacfpdii sgpqqtqkvf lfirnrtlql
      241 wldnpkiqlt featlqqlea pynsdtvlvh rvhsylerhg linfgiykri kplptkktgk
      301 viiigsgvsg laaarqlqsf gmdvtllear drvggrvatf rkgnyvadlg amvvtglggn
      361 pmavvskqvn melakikqkc plyeangqav pkekdemveq efnrlleats ylshqldfnv
      421 lnnkpvslgq alevviqlqe khvkdeqieh wkkivktqee lkellnkmvn lkekikelhq
      481 qykeasevkp prditaeflv kskhrdltal ckeydelaet qgkleeklqe leanppsdvy
      541 lssrdrqild whfanlefan atplstlslk hwdqdddfef tgshltvrng yscvpvalae
      601 gldiklntav rqvrytasgc eviavntrst sqtfiykcda vlctlplgvl kqqppavqfv
      661 pplpewktsa vqrmgfgnln kvvlcfdrvf wdpsvnlfgh vgsttasrge lflfwnlyka
      721 pillalvage aagimenisd dvivgrclai lkgifgssav pqpketvvsr wradpwargs
      781 ysyvaagssg ndydlmaqpi tpgpsipgap qpiprlffag ehtirnypat vhgallsglr
      841 eagriadqfl gamytlprqa tpgvpaqqsp sm
//
LOCUS       XP_024305480             259 aa            linear   PRI 20-MAR-2023
DEFINITION  ERI1 exoribonuclease 3 isoform X5 [Homo sapiens].
ACCESSION   XP_024305480
VERSION     XP_024305480.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024449712.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..259
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..259
                     /product="ERI1 exoribonuclease 3 isoform X5"
                     /calculated_mol_wt=29021
     Region          68..245
                     /region_name="ERI-1_3'hExo_like"
                     /note="DEDDh 3'-5' exonuclease domain of Caenorhabditis
                     elegans ERI-1, human 3' exonuclease, and similar proteins;
                     cd06133"
                     /db_xref="CDD:99836"
     Site            order(72..75,77,121,167..171,175,229,234)
                     /site_type="active"
                     /db_xref="CDD:99836"
     Site            order(72..75,77,121,167..171,175,229,234)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:99836"
     Site            order(72,74,171,229,234)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:99836"
     CDS             1..259
                     /gene="ERI3"
                     /gene_synonym="PINT1; PRNPIP"
                     /coded_by="XM_024449712.2:114..893"
                     /db_xref="GeneID:79033"
                     /db_xref="HGNC:HGNC:17276"
                     /db_xref="MIM:609917"
ORIGIN      
        1 mlaplqtgaa rfssyllsra rkvlgshlfs pcgvpefcsi strklaahgf gasmaamvsf
       61 ppqryhyflv ldfeatcdkp qihpqeiief pilklngrtm eiestfhmyv qpvvhpqltp
      121 fcteltgiiq amvdgqpslq qvlervdewm akeglldpnv ksifvtcgdw dlkvmlpgqc
      181 qylglpvady fkqwinlkka ysfamgcwpk nglldmnkgl slqhigrphs giddcknian
      241 imktlayrgf ifkqtskpf
//
LOCUS       XP_016858328             591 aa            linear   PRI 20-MAR-2023
DEFINITION  immunoglobulin superfamily member 8 isoform X3 [Homo sapiens].
ACCESSION   XP_016858328
VERSION     XP_016858328.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002839.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..591
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..591
                     /product="immunoglobulin superfamily member 8 isoform X3"
                     /calculated_mol_wt=62591
     Region          6..127
                     /region_name="V-set"
                     /note="Immunoglobulin V-set domain; pfam07686"
                     /db_xref="CDD:429596"
     Region          296..397
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          300..304
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          320..323
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          367..371
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          381..386
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          392..395
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          429..523
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          436..440
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          450..458
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          505..509
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          519..523
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..591
                     /gene="IGSF8"
                     /gene_synonym="CD316; CD81P3; EWI-2; EWI2; KCT-4; LIR-D1;
                     PGRL"
                     /coded_by="XM_017002839.2:2497..4272"
                     /db_xref="GeneID:93185"
                     /db_xref="HGNC:HGNC:17813"
                     /db_xref="MIM:606644"
ORIGIN      
        1 mgcwarevlv pegplyrvag tavsiscnvt gyegpaqqnf ewflyrpeap dtalgivstk
       61 dtqfsyavfk srvvagevqv qrlqgdavvl kiarlqaqda giyechtpst dtrylgsysg
      121 kvelrvlpdv lqvsaappgp rgrqaptspp rmtvhegqel algclartst qkhthlavsf
      181 grsvpeapvg rstlqevvgi rsdlaveaga pyaerlaage lrlgkegtdr yrmvvggaqa
      241 gdagtyhcta aewiqdpdgs waqiaekrav lahvdvqtls sqlavtvgpg errigpgepl
      301 ellcnvsgal ppagrhaays vgwemapaga pgpgrlvaql dtegvgslgp gyegrhiame
      361 kvasrtyrlr leaarpgdag tyrclakayv rgsgtrlrea asarsrplpv hvreegvvle
      421 avawlaggtv yrgetasllc nisvrggppg lrlaaswwve rpedgelssv paqlvggvgq
      481 dgvaelgvrp gggpvsvelv gprshrlrlh slgpedegvy hcapsawvqh adyswyqags
      541 arsgpvtvyp ymhaldtlfv pllvgtgval vtgatvlgti tccfmkrlrk r
//
LOCUS       XP_016871945             436 aa            linear   PRI 20-MAR-2023
DEFINITION  AMSH-like protease isoform X1 [Homo sapiens].
ACCESSION   XP_016871945
VERSION     XP_016871945.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017016456.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..436
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..436
                     /product="AMSH-like protease isoform X1"
                     /calculated_mol_wt=49652
     Region          28..132
                     /region_name="USP8_dimer"
                     /note="USP8 dimerization domain; pfam08969"
                     /db_xref="CDD:430348"
     Region          <120..198
                     /region_name="GBP_C"
                     /note="Guanylate-binding protein, C-terminal domain;
                     cl20817"
                     /db_xref="CDD:450829"
     Region          266..436
                     /region_name="MPN_AMSH_like"
                     /note="Mov34/MPN/PAD-1 family; cd08066"
                     /db_xref="CDD:163697"
     Site            order(292,347,349,357,360)
                     /site_type="active"
                     /note="MPN+ (JAMM) motif [active]"
                     /db_xref="CDD:163697"
     Site            order(294..296,321..325,328..329,332,335,341..342,345,347,
                     349,357,359..360,362..363,366..367,369..370,407)
                     /site_type="other"
                     /note="Distal ubiquitin recognition interface [polypeptide
                     binding]"
                     /db_xref="CDD:163697"
     Site            order(321,349,352..353,355,357..358,407..409)
                     /site_type="active"
                     /note="Proximal ubiquitin recognition interface [active]"
                     /db_xref="CDD:163697"
     Site            order(347,349,360)
                     /site_type="other"
                     /note="Zinc-binding site [ion binding]"
                     /db_xref="CDD:163697"
     CDS             1..436
                     /gene="STAMBPL1"
                     /gene_synonym="ALMalpha; AMSH-FP; AMSH-LP; bA399O19.2"
                     /coded_by="XM_017016456.2:522..1832"
                     /db_xref="GeneID:57559"
                     /db_xref="HGNC:HGNC:24105"
                     /db_xref="MIM:612352"
ORIGIN      
        1 mdqpftvnsl kklaampdht dvslspeerv ralsklgcni tiseditprr yfrsgvemer
       61 masvyleegn lenafvlynk fitlfveklp nhrdyqqcav pekqdimkkl keiafprtde
      121 lkndllkkyn veyqeylqsk nkykaeilkk lehqrlieae rkriaqmrqq qleseqflff
      181 edqlkkqela rgqmrsqqts glseqidgsa lscfsthqnn sllnvfadqp nksdatnyas
      241 hsppvnralt paatlsavqn lvveglrcvv lpedlchkfl qlaesntvrg ietcgilcgk
      301 lthneftith vivpkqsagp dycdmenvee lfnvqdqhdl ltlgwihthp tqtaflssvd
      361 lhthcsyqlm lpeaiaivcs pkhkdtgifr ltnagmlevs ackkkgfhph tkeprlfsic
      421 khvlvkdiki ivldlr
//
LOCUS       XP_047286535            1137 aa            linear   PRI 20-MAR-2023
DEFINITION  tripeptidyl-peptidase 2 isoform X3 [Homo sapiens].
ACCESSION   XP_047286535
VERSION     XP_047286535.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430579.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1137
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..1137
                     /product="tripeptidyl-peptidase 2 isoform X3"
                     /calculated_mol_wt=125406
     Region          14..489
                     /region_name="Peptidases_S8_Tripeptidyl_Aminopeptidase_II"
                     /note="Peptidase S8 family domain in Tripeptidyl
                     aminopeptidases_II; cd04857"
                     /db_xref="CDD:173796"
     Site            order(44,264,449)
                     /site_type="active"
                     /note="putative catalytic triad [active]"
                     /db_xref="CDD:173796"
     Site            order(190,264,328..330,362,449)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:173796"
     Region          777..963
                     /region_name="TPPII"
                     /note="Tripeptidyl peptidase II; pfam12580"
                     /db_xref="CDD:432651"
     CDS             1..1137
                     /gene="TPP2"
                     /gene_synonym="IMD78; TPP-2; TPP-II; TPPII"
                     /coded_by="XM_047430579.1:54..3467"
                     /db_xref="GeneID:7174"
                     /db_xref="HGNC:HGNC:12016"
                     /db_xref="MIM:190470"
ORIGIN      
        1 mataateepf pfhgllpkke tgaasflcry peydgrgvli avldtgvdpg apgmqvttdg
       61 kpkivdiidt tgsgdvntat evepkdgeiv glsgrvlkip aswtnpsgky higikngydf
      121 ypkalkeriq kerkekiwdp vhrvalaeac rkqeefdvan ngssqankli keelqsqvel
      181 lnsfekkysd pgpvydclvw hdgevwraci dsnedgdlsk stvlrnykea qeygsfgtae
      241 mlnysvniyd dgnllsivts ggahgthvas iaaghfpeep erngvapgaq ilsikigdtr
      301 lstmetgtgl iramievinh kcdlvnysyg eathwpnsgr icevineavw khniiyvssa
      361 gnngpclstv gcpggttssv igvgayvspd mmvaeyslre klpanqytws srgpsadgal
      421 gvsisapgga iasvpnwtlr gtqlmngtsm sspnacggia lilsglkann idytvhsvrr
      481 alentavkad nievfaqghg iiqvdkaydy lvqntsfank lgftvtvgnn rgiylrdpvq
      541 vaapsdhgvg iepvfpente nsekislqlh laltsnsswv qcpshlelmn qcrhinirvd
      601 prglreglhy tevcgydias pnagplfrvp itaviaakvn esshydlaft dvhfkpgqir
      661 rhfievpega twaevtvcsc ssevsakfvl havqlvkqra yrshefykfc slpekgtlte
      721 afpvlggkai efciarwwas lsdvnidyti sfhgivctap qlnihasegi nrfdvqsslk
      781 yedlapcitl knwvqtlrpv saktkplgsr dvlpnnrqly emvltynfhq pksgevtpsc
      841 pllcellyes efdsqlwiif dqnkrqmgsg dayphqyslk lekgdytirl qirheqisdl
      901 erlkdlpfiv shrlsntlsl dihenhsfal lgkkkssnlt lppkynqpff vtslpddkip
      961 kgagpgcyla gsltlsktel gkkagqsaak rqgkfkkdvi pvhyylippp tktkngskdk
     1021 ekdsekekdl keeftealrd lkiqwmtkld ssdiynelke typnylplyv arlhqldaek
     1081 ermkrlneiv daanavishi dqtalavyia mktdprpdaa tikkyltmtw tnknpps
//
LOCUS       XP_005254487             425 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleolar and spindle-associated protein 1 isoform X7 [Homo
            sapiens].
ACCESSION   XP_005254487
VERSION     XP_005254487.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005254430.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..425
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..425
                     /product="nucleolar and spindle-associated protein 1
                     isoform X7"
                     /calculated_mol_wt=47439
     Region          143..420
                     /region_name="NUSAP"
                     /note="Nucleolar and spindle-associated protein;
                     pfam16006"
                     /db_xref="CDD:435063"
     CDS             1..425
                     /gene="NUSAP1"
                     /gene_synonym="ANKT; BM037; LNP; NUSAP; PRO0310p1; Q0310;
                     SAPL"
                     /coded_by="XM_005254430.6:78..1355"
                     /db_xref="GeneID:51203"
                     /db_xref="HGNC:HGNC:18538"
                     /db_xref="MIM:612818"
ORIGIN      
        1 miipsleeld slkysdlqnl akslglranl ratkllkalk gyikhearkg nenqdesqts
       61 asscdeteiq isnqeeaerq plghvtktrr rcktvrvdpd sqnhekqesq dlratakvps
      121 ppdehqeaen avssgnrdsk vpsegkksly tdesskpgkn krtaittpnf kklheahfke
      181 mesidqyier kkkhfeehns mnelkqpink ggvrtpvppr grlsvastpi sqrrsqgrsc
      241 gpasqstlgl kgslkrsais aaktgvrfsa atkdnehkrs ltktparksa hvtvsggtpk
      301 geavlgthkl ktitgnsaav itpfklttea tqtpvsnkkp vfdlkaslsr plnyephkgk
      361 lkpwgqsken nylnqhvnri nfykktykqp hlqtkeeqrk kreqerkekk akvlgmrrgl
      421 ilaed
//
LOCUS       XP_011520532             377 aa            linear   PRI 20-MAR-2023
DEFINITION  protein-glutamine gamma-glutamyltransferase 5 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011520532
VERSION     XP_011520532.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011522230.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..377
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..377
                     /product="protein-glutamine gamma-glutamyltransferase 5
                     isoform X1"
                     /calculated_mol_wt=41896
     Region          164..263
                     /region_name="Transglut_C"
                     /note="Transglutaminase family, C-terminal ig like domain;
                     pfam00927"
                     /db_xref="CDD:395741"
     Region          277..374
                     /region_name="Transglut_C"
                     /note="Transglutaminase family, C-terminal ig like domain;
                     pfam00927"
                     /db_xref="CDD:395741"
     CDS             1..377
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /coded_by="XM_011522230.3:233..1366"
                     /db_xref="GeneID:9333"
                     /db_xref="HGNC:HGNC:11781"
                     /db_xref="MIM:603805"
ORIGIN      
        1 markdlppay ggwqvldatp qemsngvycc gpasvraike gevdlnydtp fvfsmvnadc
       61 mswlvqggke qklhqdtssv gnfistksiq sderdditen ykyeegslqe rqvflkalqk
      121 lkarsfhgsq rgaelqpsrp tslsqdsprs lhtpslrpsd vvqvslkfkl ldppnmgqdi
      181 cfvllalnms sqfkdlkvnl saqsllhdgs plspfwqdta fitlspkeak typckisysq
      241 ysqylstdkl irisalgeek sspekilvnk iitlsypsit invlgaavvn qplsiqvifs
      301 nplseqvedc vltvegsglf kkqqkvflgv lkpqhqasii letvpfksgq rqiqanmrsn
      361 kfkdikgyrn vyvdfal
//
LOCUS       XP_047291119             501 aa            linear   PRI 20-MAR-2023
DEFINITION  stAR-related lipid transfer protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_047291119
VERSION     XP_047291119.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435163.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..501
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..501
                     /product="stAR-related lipid transfer protein 3 isoform
                     X1"
                     /calculated_mol_wt=55560
     Region          47..213
                     /region_name="MENTAL"
                     /note="Cholesterol-capturing domain; pfam10457"
                     /db_xref="CDD:431295"
     Region          233..411
                     /region_name="SRPBCC"
                     /note="START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC)
                     ligand-binding domain superfamily; cl14643"
                     /db_xref="CDD:449340"
     CDS             1..501
                     /gene="STARD3"
                     /gene_synonym="CAB1; es64; MLN64"
                     /coded_by="XM_047435163.1:71..1576"
                     /db_xref="GeneID:10948"
                     /db_xref="HGNC:HGNC:17579"
                     /db_xref="MIM:607048"
ORIGIN      
        1 msklpreltr dlerslpava slgsslshsq slsshllppp ekrraisdvr rtfclfvtfd
       61 llfisllwii elntntgirk nleqeiiqyn fktsffdifv laffrfsgll lgyavlrlrh
      121 wwviavttlv ssaflivkvi lsellskgaf gyllpivsfv lawletwfld fkvlpqeaee
      181 erwylaaqva vargpllfsg alsegqfysp pesfagsdne sdeevagkks fsaqereyir
      241 qgkeatavvd qilaqeenwk feknneygdt vytievpfhg ktfilktflp cpaelvyqev
      301 ilqpermvlw nktvtacqil qrvedntlis ydvsagaagg vvsprdfvnv rrierrrdry
      361 lssgiatshs akppthkyvr gengpggfiv lksasnprvc tfvwilntdl kvgcwgaara
      421 acpgtsstra srppclnlpf tcdsasaswg pgrdcapshp agqgpvatts rarkgaswar
      481 tahmgpgprl spsteprsaw s
//
LOCUS       XP_024307000             218 aa            linear   PRI 20-MAR-2023
DEFINITION  ras-related protein Rab-27B isoform X1 [Homo sapiens].
ACCESSION   XP_024307000
VERSION     XP_024307000.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024451232.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..218
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..218
                     /product="ras-related protein Rab-27B isoform X1"
                     /calculated_mol_wt=24477
     Region          6..185
                     /region_name="Rab27A"
                     /note="Rab GTPase family 27a (Rab27a); cd04127"
                     /db_xref="CDD:206700"
     Site            6..11
                     /site_type="other"
                     /note="Rab subfamily motif 1 (RabSF1)"
                     /db_xref="CDD:206700"
     Site            16..23
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206700"
     Site            order(19..24,134,136,164..165)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206700"
     Site            order(24..34,39..40)
                     /site_type="other"
                     /note="Rab subfamily motif 2 (RabSF2)"
                     /db_xref="CDD:206700"
     Site            order(34,39..47)
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206700"
     Site            order(39,43..50,67,69)
                     /site_type="other"
                     /note="putative GEF interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:206700"
     Site            41
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206700"
     Site            order(42,44..46,71,73,80..81,84,88,90..93)
                     /site_type="active"
                     /note="putative effector interaction site [active]"
                     /db_xref="CDD:206700"
     Site            order(42..43,45,73..74,81,83,85..87)
                     /site_type="other"
                     /note="putative GDI interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:206700"
     Site            42..46
                     /site_type="other"
                     /note="Rab family motif 1 (RabF1)"
                     /db_xref="CDD:206700"
     Site            69..73
                     /site_type="other"
                     /note="Rab family motif 2 (RabF2)"
                     /db_xref="CDD:206700"
     Site            74..77
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206700"
     Site            order(77,79..89)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206700"
     Site            80..85
                     /site_type="other"
                     /note="Rab family motif 3 (RabF3)"
                     /db_xref="CDD:206700"
     Site            88..92
                     /site_type="other"
                     /note="Rab family motif 4 (RabF4)"
                     /db_xref="CDD:206700"
     Site            97..102
                     /site_type="other"
                     /note="Rab family motif 5 (RabF5)"
                     /db_xref="CDD:206700"
     Site            120..130
                     /site_type="other"
                     /note="Rab subfamily motif 3 (RabSF3)"
                     /db_xref="CDD:206700"
     Site            133..136
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206700"
     Site            163..165
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206700"
     Site            179..185
                     /site_type="other"
                     /note="Rab subfamily motif 4 (RabSF4)"
                     /db_xref="CDD:206700"
     CDS             1..218
                     /gene="RAB27B"
                     /gene_synonym="C25KG"
                     /coded_by="XM_024451232.2:2629..3285"
                     /db_xref="GeneID:5874"
                     /db_xref="HGNC:HGNC:9767"
                     /db_xref="MIM:603869"
ORIGIN      
        1 mtdgdydyli kllalgdsgv gkttflyryt dnkfnpkfit tvgidfrekr vvynaqgpng
       61 ssgkafkvhl qlwdtagqer frslttaffr damgfllmfd ltsqqsflnv rnwmsqlqan
      121 aycenpdivl ignkadlpdq revnerqare ladkygipyf etsaatgqnv ekavetlldl
      181 imkrmeqcve ktqipdtvng gnsgnldgek ppekkcic
//
LOCUS       XP_047299743            1469 aa            linear   PRI 20-MAR-2023
DEFINITION  CLIP-associating protein 1 isoform X16 [Homo sapiens].
ACCESSION   XP_047299743
VERSION     XP_047299743.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443787.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1469
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1469
                     /product="CLIP-associating protein 1 isoform X16"
                     /calculated_mol_wt=162046
     Region          <77..208
                     /region_name="CLASP_N"
                     /note="CLASP N terminal; pfam12348"
                     /db_xref="CDD:432496"
     Region          93..120
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          132..157
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          167..194
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          168..198
                     /region_name="HEAT"
                     /note="HEAT repeat; pfam02985"
                     /db_xref="CDD:427093"
     Region          324..537
                     /region_name="CLASP_N"
                     /note="CLASP N terminal; pfam12348"
                     /db_xref="CDD:432496"
     Region          828..855
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(844..845,848,851..852,855,885..886,889,892..893,896,
                     927..928,931,934..935,966..967,970,973..974)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          867..897
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          906..935
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          946..975
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          1212..1241
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(1226,1234,1237,1240..1241,1295..1296,1299,
                     1302..1303,1306,1336..1337,1340,1343..1344,1347,
                     1382..1383,1413..1414,1417)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          1256..1306
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          1316..1348
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          1393..1419
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     CDS             1..1469
                     /gene="CLASP1"
                     /gene_synonym="MAST1"
                     /coded_by="XM_047443787.1:377..4786"
                     /db_xref="GeneID:23332"
                     /db_xref="HGNC:HGNC:17088"
                     /db_xref="MIM:605852"
ORIGIN      
        1 meprmescla qvlqkdvgkr lqvgqelidy fsdkqksadl ehdqtmldkl vdglatswvn
       61 ssnykvvllg mdilsalvtr lqdrfkaqig tvlpslidrl gdakdsvreq dqtlllkimd
      121 qaanpqyvwd rmlggfkhkn frtregiclc liatlnasga qtltlskivp hicnllgdpn
      181 sqvrdaains lveiyrhvge rvradlskkg lpqsrlnvif tkfdevqksg nmiqsandkn
      241 fddedsvdgn rpssasstss kappssrrnv gmgttrrlgs stlgskssaa kegagavdee
      301 dfikafddvp vvqiyssrdl eesinkirei lsddkhdweq rvnalkkirs lllagaaeyd
      361 nffqhlrlld gafklsakdl rsqvvreaci tlghlssvlg nkfdhgaeai mptifnlipn
      421 sakimatsgv vavrliirht hiprlipvit snctsksvav rrrcfefldl llqewqthsl
      481 erhisvlaet ikkgihdads eariearkcy wgfhshfsre aehlyhtles syqkalqshl
      541 knsdsivslp qsdrsssssq eslnrplsak rsptgsttsr astvstksvs ttgslqrsrs
      601 didvnaaasa kskvssssgt tpfssaaalp pgsyaslesr hmredmeyig ldsgrirtrr
      661 qssgsatnva stpdnrgrsr akvvsqsqpg srssspgkll gsgyggltgg ssrgppvtps
      721 sekrskiprs qgcsretspn rigldrfglg qpgripgsvn amrvlststd leaavadalk
      781 kpvrrryepy gmysdddans dassvcsers ygsrnggiph ylrqtedvae vlnhcassnw
      841 serkegllgl qnllksqrtl srvelkrlce iftrmfadph skvfsmflet lvdfiiihkd
      901 dlqdwlfvll tqllkkmgad llgsvqakvq kaldvtrdsf pfdqqfnilm rfivdqtqtp
      961 nlkvkvailk yieslarqmd ptdfvnsset rlavsriitw ttepkssdvr kaaqivlisl
     1021 felntpeftm llgalpktfq dgatkllhnh lknssntsvg spsntigrtp srhtssrtsp
     1081 ltsptncshg glspsmldyd tenlnseeiy sslrgvteai ekfsfrsqed lnepikrdgk
     1141 kecdivsrdg gaaspategr ggseveggrt aldnktslln tqpprafpgp rardynpypy
     1201 sdaintydkt alkeavfddd meqlrdvpid hsdlvadllk elsnhnerve erkgallell
     1261 kitredslgv weehfktill llletlgdkd hsiralalrv lreilrnqpa rfknyaelti
     1321 mktleahkds hkevvraaee aastlassih peqcikvlcp iiqtadypin laaikmqtkv
     1381 veriakesll qllvdiipgl lqgydntess vrkasvfclv aiysvigedl kphlaqltgs
     1441 kmkllnlyik raqttnsnss sssdvsths
//
LOCUS       XP_047301473             691 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase MARCHF7 isoform X2 [Homo sapiens].
ACCESSION   XP_047301473
VERSION     XP_047301473.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445517.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..691
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..691
                     /product="E3 ubiquitin-protein ligase MARCHF7 isoform X2"
                     /calculated_mol_wt=76448
     Region          552..610
                     /region_name="RING_CH-C4HC3_MARCH7"
                     /note="RING-CH finger, H2 subclass (C4HC3-type), found in
                     membrane-associated RING-CH7 (MARCH7); cd16812"
                     /db_xref="CDD:438461"
     CDS             1..691
                     /gene="MARCHF7"
                     /gene_synonym="AXO; AXOT; MARCH-VII; MARCH7; RNF177"
                     /coded_by="XM_047445517.1:213..2288"
                     /db_xref="GeneID:64844"
                     /db_xref="HGNC:HGNC:17393"
                     /db_xref="MIM:613334"
ORIGIN      
        1 meskpsripr risvqpsssl sarmmsgsrg sslndtyhsr dssfrldsey qstsasasas
       61 pfqsawyses eitqgarsrs qnqqrdhdsk rpklsctnct tsagrnvgng lntlsdsswr
      121 hsqvprsssm vlgsfgtdlm rerrdlerrt dssisnlmdy shrsgdftts syvqdrvpsy
      181 sqgarpkens mstlqlntss tnhqlpsehq tilssrdsrn slrsnfssre sessrsntqp
      241 gfsysssrde apiisnserv vssqrpfqes sdnegrrttr rllsriassm sstffsrrss
      301 qdslntrsln sensyvspri ltasqsrsnv psasevpdnr aseasqgfrf lrrrwglssl
      361 shnhssesds enfnqesegr ntgpwlsssl rnrctplfsr rrregrdess riptsdtssr
      421 shifrresne vvhleaqndp lgaaanrpqa saasssattg gstsdsaqgg rntgisgilp
      481 gslfrfavpp algsnltdnv mitvdiipsg wnsadgksdk tksapsrdpe rlqkikesll
      541 ledseeeegd lcricqmaaa sssnlliepc kctgslqyvh qdcmkkwlqa kinsgsslea
      601 vttcelckek lelnledfdi helhrahane qaeyefissg lylvvllhlc eqsfsdmmgn
      661 tnepstrvrl qrmipkktet itghlilpnf i
//
LOCUS       XP_016860381             190 aa            linear   PRI 20-MAR-2023
DEFINITION  ashwin isoform X2 [Homo sapiens].
ACCESSION   XP_016860381
VERSION     XP_016860381.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004892.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_016860381.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..190
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..190
                     /product="ashwin isoform X2"
                     /calculated_mol_wt=21225
     Region          13..190
                     /region_name="Ashwin"
                     /note="Developmental protein; pfam15323"
                     /db_xref="CDD:434633"
     CDS             1..190
                     /gene="C2orf49"
                     /gene_synonym="asw"
                     /coded_by="XM_017004892.3:49..621"
                     /db_xref="GeneID:79074"
                     /db_xref="HGNC:HGNC:28772"
ORIGIN      
        1 magdvggrsc tdselllhpe llsqeflllt leqkniavet dvrvnkdslt dlyvqhaipl
       61 pqrdlpknrw gkmmekkreq heiknetkrs stvdglrkrp livfdgssts tsikvkkten
      121 gdndrlkppp qnhdlthrks psgpvksppl spvgttpvkl kraapkeeae amnnlkppqa
      181 krkiqhvtwp
//
LOCUS       XP_016883306             320 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ALEX isoform X8 [Homo sapiens].
ACCESSION   XP_016883306
VERSION     XP_016883306.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027817.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..320
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..320
                     /product="protein ALEX isoform X8"
                     /calculated_mol_wt=37382
     Region          1..314
                     /region_name="G-alpha"
                     /note="Alpha subunit of G proteins (guanine nucleotide
                     binding); cd00066"
                     /db_xref="CDD:206639"
     Site            order(19,23,27,30,33..34,54,57,98,127,152,160,164)
                     /site_type="active"
                     /note="GoLoco binding site [active]"
                     /db_xref="CDD:206639"
     Site            125..133
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206639"
     Site            130
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206639"
     Site            order(131,133,135,146,148,152..154,156,159..160,162..165)
                     /site_type="other"
                     /note="beta - gamma complex interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:206639"
     Site            order(133,158,161..162,165)
                     /site_type="other"
                     /note="adenylyl cyclase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:206639"
     Site            149..152
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206639"
     Site            150..166
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206639"
     Site            218..221
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206639"
     Site            order(283..294,296..299)
                     /site_type="active"
                     /note="putative receptor binding site [active]"
                     /db_xref="CDD:206639"
     Site            291..293
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206639"
     CDS             1..320
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /coded_by="XM_017027817.2:213..1175"
                     /db_xref="GeneID:2778"
                     /db_xref="HGNC:HGNC:4392"
                     /db_xref="MIM:139320"
ORIGIN      
        1 mrilhvngfn gdekatkvqd iknnlkeaie tivaamsnlv ppvelanpen qfrvdyilsv
       61 mnvpdfdfpp efyehakalw edegvracye rsneyqlidc aqyfldkidv ikqadyvpsd
      121 qdllrcrvlt sgifetkfqv dkvnfhmfdv ggqrderrkw iqcfndvtai ifvvasssyn
      181 mvirednqtn rlqealnlfk siwnnrwlrt isvilflnkq dllaekvlag kskiedyfpe
      241 faryttpeda tpepgedprv trakyfirde flristasgd grhycyphft cavdtenirr
      301 vfndcrdiiq rmhlrqyell
//
LOCUS       XP_047296337             362 aa            linear   PRI 20-MAR-2023
DEFINITION  PC-esterase domain-containing protein 1A isoform X3 [Homo sapiens].
ACCESSION   XP_047296337
VERSION     XP_047296337.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440381.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..362
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..362
                     /product="PC-esterase domain-containing protein 1A isoform
                     X3"
                     /calculated_mol_wt=41156
     Region          34..266
                     /region_name="SGNH_hydrolase_like_5"
                     /note="SGNH_hydrolase subfamily. SGNH hydrolases are a
                     diverse family of lipases and esterases. The tertiary fold
                     of the enzyme is substantially different from that of the
                     alpha/beta hydrolase family and unique among all known
                     hydrolases; its active site...; cd01842"
                     /db_xref="CDD:238880"
     Site            order(41,81,140,245,248)
                     /site_type="active"
                     /db_xref="CDD:238880"
     Site            order(41,245,248)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:238880"
     Site            order(41,81,144)
                     /site_type="active"
                     /note="oxyanion hole [active]"
                     /db_xref="CDD:238880"
     CDS             1..362
                     /gene="PCED1A"
                     /gene_synonym="bA12M19.1; C20orf81; FAM113A"
                     /coded_by="XM_047440381.1:744..1832"
                     /db_xref="GeneID:64773"
                     /db_xref="HGNC:HGNC:16212"
ORIGIN      
        1 mvfclsseep rrplrsdmvh fqasevqqll hnkfvvilgd siqravykdl vlllqkdsll
       61 taaqlkakge lsfeqdqlva ggqlgelhng tqyrevrqfc sgsghhlvrf yfltrvysey
      121 ledvleelty gpapdlviin sclwdlsryg rcsmesyren lervfvrmdq vlpdscllvw
      181 nmamplgeri tggfllpelq plagslrrdv vegnfysatl agdhcfdvld lhfhfrhavq
      241 hrhrdgvhwd qhahrhlshl llthvadawg velpkrgypp gcgpgvnfvp gplpppipgp
      301 nphgqhwgpv vhrgmpryvp nspyhvrrmg gpcrqrlrhs erlihtykld rrppahsgtw
      361 pg
//
LOCUS       XP_016883795             419 aa            linear   PRI 20-MAR-2023
DEFINITION  GDP-fucose protein O-fucosyltransferase 2 isoform X9 [Homo
            sapiens].
ACCESSION   XP_016883795
VERSION     XP_016883795.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017028306.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..419
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..419
                     /product="GDP-fucose protein O-fucosyltransferase 2
                     isoform X9"
                     /calculated_mol_wt=48679
     Region          45..404
                     /region_name="O-FucT-2"
                     /note="GDP-fucose protein O-fucosyltransferase 2; cd11298"
                     /db_xref="CDD:211384"
     Site            order(55..58,282,284,321..323,358,377..379)
                     /site_type="other"
                     /note="GDP-Fucose binding site [chemical binding]"
                     /db_xref="CDD:211384"
     CDS             1..419
                     /gene="POFUT2"
                     /gene_synonym="C21orf80; FUT13"
                     /coded_by="XM_017028306.3:25..1284"
                     /db_xref="GeneID:23275"
                     /db_xref="HGNC:HGNC:14683"
                     /db_xref="MIM:610249"
ORIGIN      
        1 matlsfvfll lgavswppas asgqefwpgq saadilsgaa srrryllydv nppegfnlrr
       61 dvyiriasll ktllkteewv lvlppwgrly hwqspdihqv ripwseffdl pslnknipvi
      121 eyeqfiaesg gpfidqvyvl qsyaegwkeg tweekvderp cidqllysqd kheyyrcllr
      181 llplpqgsas ivaplllrnt sarsvmldra enllhdhygg keywdtrrsm vfarhlrevg
      241 defrsrhlns tddadripfq edwmkmkvkl gsalggpylg vhlrrkdfiw ghrqdvpsle
      301 gavrkirslm kthrldkvfv atdavrkeye elkkllpemv rfeptweele lykdggvaii
      361 dqwicaharf figtsvstfs friheereil gldpkttynr fcgdqekace qpthwkity
//
LOCUS       XP_016884236             364 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 22A isoform X8 [Homo sapiens].
ACCESSION   XP_016884236
VERSION     XP_016884236.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017028747.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..364
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..364
                     /product="TBC1 domain family member 22A isoform X8"
                     /calculated_mol_wt=40721
     Region          219..>333
                     /region_name="RabGAP-TBC"
                     /note="Rab-GTPase-TBC domain; cl02495"
                     /db_xref="CDD:445800"
     CDS             1..364
                     /gene="TBC1D22A"
                     /gene_synonym="C22orf4; HSC79E021"
                     /coded_by="XM_017028747.3:138..1232"
                     /db_xref="GeneID:25771"
                     /db_xref="HGNC:HGNC:1309"
                     /db_xref="MIM:616879"
ORIGIN      
        1 masdgarkqf wkrsnsklpg siqhvygaqh ppfdpllhgt llrstakmpt tpvkakrvst
       61 fqefesntsd awdageddde llamaaesln sevvmetanr vlrnhsqrqg rptlqegpgl
      121 qqkprpeaep psppsgdlrl vksvseshts cpaesasdaa plqrsqslph satvtlggts
      181 dpstlsssal sereasrldk fkqllagpnt dleelrrlsw sgipkpvrpm twkllsgylp
      241 anvdrrpatl qrkqkeyfaf iehyydsrnd evhqdtyrqi hidiprmspe alilqpkvte
      301 iferilfiwa irhpasgyvq gindlvtpff vvficeyidv lhswidalvf trkaastwar
      361 aqrc
//
LOCUS       XP_047303906             963 aa            linear   PRI 20-MAR-2023
DEFINITION  ERC protein 2 isoform X12 [Homo sapiens].
ACCESSION   XP_047303906
VERSION     XP_047303906.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447950.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..963
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..963
                     /product="ERC protein 2 isoform X12"
                     /calculated_mol_wt=111123
     Region          150..907
                     /region_name="Cast"
                     /note="RIM-binding protein of the cytomatrix active zone;
                     pfam10174"
                     /db_xref="CDD:431111"
     CDS             1..963
                     /gene="ERC2"
                     /gene_synonym="CAST; CAST1; ELKSL; SPBC110; Spc110"
                     /coded_by="XM_047447950.1:361..3252"
                     /db_xref="GeneID:26059"
                     /db_xref="HGNC:HGNC:31922"
                     /db_xref="MIM:617250"
ORIGIN      
        1 mygsartitn legspsrspr lprsprlghr rtssgggggt gktlsmeniq slnaayatsg
       61 pmylsdhegv asttypkgtm tlgratnrav yggrvtamgs spniasagls htdvlsytdq
      121 hggltgsshh hhhqvpsmlr qvrdstmldl qaqlkelqre ndllrkeldi kdsklgssmn
      181 siktfwspel kkervlrkee aarmsvlkeq mrvsheenqh lqltiqalqd elrtqrdlnh
      241 llqqesgnrg aehftielte enfrrlqaeh drqakelfll rktleemelr ietqkqtlna
      301 rdesikklle mlqskglpsk sleddnertr rmaeaesqvs hlevildqke kenihlreel
      361 hrrsqlqpep aktkalqtvi emkdtkiasl ernirdlede iqmlkangvl ntedreeeik
      421 qievykshsk fmktkidqlk qelskkesel lalqtkletl snqnsdckqh ievlkeslta
      481 keqraailqt evdalrlrle ekesflnkkt kqlqdlteek gtlageirdm kdmlevkerk
      541 invlqkkien lqeqlrdkdk qltnlkdrvk slqtdssntd talatleeal sekeriierl
      601 keqrerddre rleeiesfrk enkdlkekvn alqaelteke sslidlkeha sslasaglkr
      661 dsklksleia ieqkkeecsk leaqlkkahn ieddsrmnpe fadqikqldk easyyrdecg
      721 kaqaevdrll eilkevenek ndkdkkiael erhmkdqnkk vanlkhnqql ekkknaqlle
      781 evrrredsma dnsqhlqiee lmnalektrq eldatkarla stqqslaeke ahlanlrier
      841 rkqleeilem kqeallaais ekdanialle lsaskkkktq eevmalkrek drlvhqlkqq
      901 tqnrmklmad nydddhhhyh hhhhhhhhrs pgrsqhsnhr pspdqmiqlc rrhvgtaksh
      961 avh
//
LOCUS       XP_047304057             612 aa            linear   PRI 20-MAR-2023
DEFINITION  lipoma-preferred partner isoform X6 [Homo sapiens].
ACCESSION   XP_047304057
VERSION     XP_047304057.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448101.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..612
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..612
                     /product="lipoma-preferred partner isoform X6"
                     /calculated_mol_wt=65616
     Region          <19..388
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          416..469
                     /region_name="LIM1_TRIP6"
                     /note="The first LIM domain of Thyroid
                     receptor-interacting protein 6 (TRIP6); cd09350"
                     /db_xref="CDD:188736"
     Site            order(416,419,438,441,444,447,465,468)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188736"
     Region          476..528
                     /region_name="LIM2_TRIP6"
                     /note="The second LIM domain of Thyroid
                     receptor-interacting protein 6 (TRIP6); cd09356"
                     /db_xref="CDD:188742"
     Site            order(476,479,496,499,502,505,524,527)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188742"
     Region          536..601
                     /region_name="LIM3_TRIP6"
                     /note="The third LIM domain of Thyroid
                     receptor-interacting protein 6 (TRIP6); cd09436"
                     /db_xref="CDD:188820"
     Site            order(536,539,563,566,569,572,593,596)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188820"
     CDS             1..612
                     /gene="LPP"
                     /coded_by="XM_047448101.1:433..2271"
                     /db_xref="GeneID:4026"
                     /db_xref="HGNC:HGNC:6679"
                     /db_xref="MIM:600700"
ORIGIN      
        1 mshpswlppk stgeplghvp armetthsfg npsisvstqq ppkkfapvva pkpkynpykq
       61 pggegdflpp pppplddssa lpsisgnfpp pppldeeafk vqgnpggktl eerrssldae
      121 idsltsilad lecsspykpr ppqsstgsta sppvstpvtg hkrmvipnqp pltatkkstl
      181 kpqpapqagp ipvapigtlk pqpqpvpasy ttastssrpt fnvqvksaqp sphymaapss
      241 gqiygsgpqg yntqpvpvsg qcpppstrgg mdyayipppg lqpepgygya pnqgryyegy
      301 yaagpgyggr ndsdptygqq ghpntwkrep gytppgagnq nppgmypvtg pkktyitdpv
      361 sapcapplqp kgghsgqlgp ssvapsfrpe delehltkkm lydmenppad eyfgrcarcg
      421 envvgegtgc tamdqvfhvd cftciicnnk lrgqpfyave kkaycepcyi ntleqcnvcs
      481 kpimerilra tgkayhphcf tcvmchrsld gipftvdagg lihciedfhk kfaprcsvck
      541 epimpapgqe etvrivaldr dfhvhcyrce dcggllsegd nqgcypldgh ilcktcnsar
      601 irvltakast dl
//
LOCUS       XP_047304350             175 aa            linear   PRI 20-MAR-2023
DEFINITION  elongator complex protein 6 isoform X12 [Homo sapiens].
ACCESSION   XP_047304350
VERSION     XP_047304350.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448394.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..175
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..175
                     /product="elongator complex protein 6 isoform X12"
                     /calculated_mol_wt=19461
     Region          2..>175
                     /region_name="ELP6"
                     /note="Elongation complex protein 6; pfam09807"
                     /db_xref="CDD:430841"
     CDS             1..175
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /coded_by="XM_047448394.1:123..650"
                     /db_xref="GeneID:54859"
                     /db_xref="HGNC:HGNC:25976"
                     /db_xref="MIM:615020"
ORIGIN      
        1 mfvelnnlln ttpdraeqgk ltllcdaktd gsflvhhfls fylkanckvc fvaliqsfsh
       61 ysivgqklgv sltmarergq lvfleglksa vdvvfqaqke phplqflrea nagnlkplfe
      121 fvrealkpvd sgearwtypv llvddlsvll slgmgavavl dfihycratv cwelk
//
LOCUS       XP_047272405            1395 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein KIAA0232 isoform X2 [Homo sapiens].
ACCESSION   XP_047272405
VERSION     XP_047272405.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416449.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1395
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1395
                     /product="uncharacterized protein KIAA0232 isoform X2"
                     /calculated_mol_wt=154658
     Region          27..1298
                     /region_name="DUF4603"
                     /note="Domain of unknown function (DUF4603); pfam15376"
                     /db_xref="CDD:434677"
     CDS             1..1395
                     /gene="KIAA0232"
                     /coded_by="XM_047416449.1:492..4679"
                     /db_xref="GeneID:9778"
                     /db_xref="HGNC:HGNC:28992"
                     /db_xref="MIM:619237"
ORIGIN      
        1 mypictvvvd glpsesssss ypgpvsvsem sllhalgpvq twlgqelekc gidamiytry
       61 vlslllhdsy dydlqeqend iflgwekgay kkwgkskkkc sdltleemkk qaavqclrsa
      121 sdessgietl veelcsrlkd lqskqeekih kklegspspe aelsppakdq vemyyeafpp
      181 lsekpvclqe imtvwnkskv csysssssss tappastdts spkdcnsese vtkerssevp
      241 ttvhektqsk sknekenkfs ngtieekpal ykkqirhkpe gkirprswss gsseagssss
      301 gnqgelkasm kyvkvrhkar eirnkkgrng qsrlslkhge kaernihtgs ssssssgsvk
      361 qlckrgkrpl keigrkdpgs tegkdlymen rkdteykeep lwytepiaey fvplsrkskl
      421 ettyrnrqdt sdltseavee lsesvhglci snnnlhktyl aagtfidghf vempavined
      481 idltgtslcs lpednkyldd ihlselthfy evdidqsmld pgasetmqge srilnmirqk
      541 skentdfeae ccivldgmel qgeraiwtds tssvgaeglf lqdlgnlaqf weccssssgd
      601 adgesfggds pvrlspilds tvlnshllag nqelfsdine gsginscfsv fevqcsnsvl
      661 pfsfetlnlg nentdssanm lgktqsrlli wtknsafeen ehcsnlstrt cspwshseet
      721 rsdnetlniq feestqfnae dinyvvprvs snyvdeelld flqdetcqqn srtlgeiptl
      781 vfkktskles vcgiqleqkt enknfettqv cnesphgdgy ssgvikdiwt kmadtnsvat
      841 veiertdael fsadvnnycc cldaeaelet lqepdkavrr seyhlwegqk eslekrafas
      901 selsnvdggd yttpskpwdv aqdkentfil ggvygelktf nsdgewavvp pshtkgsllq
      961 caasdvvtia gtdvfmtpgn sfapghrqlw kpfvsfeqnd qpksgengln kgfsfifhed
     1021 llgacgnfqv edpgleysfs sfdlsnpfsq vlhvecsfep egiasfspsf kpksilcsds
     1081 dsevfhpric gvdrtqyrai risprthfrp isaselspgg gsesefesek deanipipsq
     1141 vdifedpqad lkpleedaek eghyygksel esgkflprlk ksgmeksaqt sldsqeestg
     1201 ilsvgkqnqc lecsmnesle idlesseanc kimaqceeei nnfcgckagc qfpayednpv
     1261 ssgqleefpv lntdiqgmnr sqekqtwwek alysplfpas eceecytnak gesgleeypd
     1321 aketpsneer lldfnrvssv yearctgerd sgaksdgfrg kmcssassts eetgseggge
     1381 wvgpseeelf srthl
//
LOCUS       XP_047272484             329 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124900752 [Homo sapiens].
ACCESSION   XP_047272484
VERSION     XP_047272484.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416528.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..329
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..329
                     /product="uncharacterized protein LOC124900752"
                     /calculated_mol_wt=36240
     Region          <14..>136
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     CDS             1..329
                     /gene="LOC124900752"
                     /coded_by="XM_047416528.1:562..1551"
                     /db_xref="GeneID:124900752"
ORIGIN      
        1 mgaeeegkrk rslprikflp asagtpqwra lrslgesqrg praqmplpga radthtqsdp
       61 slfparvsqp gsparrsarl rrpalskqra aplefarprg gdapslaace apgaswflgp
      121 rarspgpssa pcpadpvgrv lvlgcvsvvc arapggkdqa twrekegpga aynppkgtlc
      181 pretdkkhcr sgltssskyl ftwpppthsf ssaslsptsl tpptlppwlw qreederesr
      241 crcdghhidr csdsgerres gtekkrkrgk ynrhcstikr eqkdkekrvv afpniishtr
      301 sletrehtse nkisrltekk ydeeegted
//
LOCUS       XP_016865810             147 aa            linear   PRI 20-MAR-2023
DEFINITION  cysteine-rich secretory protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_016865810
VERSION     XP_016865810.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017010321.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..147
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..147
                     /product="cysteine-rich secretory protein 1 isoform X1"
                     /calculated_mol_wt=16664
     Region          <1..75
                     /region_name="CAP"
                     /note="CAP (cysteine-rich secretory proteins, antigen 5,
                     and pathogenesis-related 1 proteins) domain family;
                     cl00133"
                     /db_xref="CDD:412178"
     Region          93..147
                     /region_name="Crisp"
                     /note="pfam08562"
                     /db_xref="CDD:430075"
     CDS             1..147
                     /gene="CRISP1"
                     /gene_synonym="AEGL1; ARP; CRISP-1; HEL-S-57; HSCRISP1D;
                     HSCRISP1G; HUMARP"
                     /coded_by="XM_017010321.3:45..488"
                     /db_xref="GeneID:167"
                     /db_xref="HGNC:HGNC:304"
                     /db_xref="MIM:601193"
ORIGIN      
        1 mhmtsypvsw ssvigvwyse stsfkhgewt ttdddittdh ytqivwatsy ligcaiascr
       61 qqgsprylyv chychegndp etknepyktg vpceacpsnc edklctnpci yydeyfdcdi
      121 qvhylgcnhs ttilfckatc lcdteik
//
LOCUS       XP_011512818             618 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 311 isoform X7 [Homo sapiens].
ACCESSION   XP_011512818
VERSION     XP_011512818.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514516.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..618
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..618
                     /product="zinc finger protein 311 isoform X7"
                     /calculated_mol_wt=71062
     Region          16..76
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          201..221
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(206,208,210,212..213,216..217,220,234,236,240..241,
                     244..245,248,262,264,266,268..269,272..273,276)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          225..>552
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          229..249
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          257..277
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          285..305
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          313..333
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(318,320,322,324..325,328..329,332,346,348,352..353,
                     356..357,360,374,376,378,380..381,384..385,388)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          341..361
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          369..389
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          397..417
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          425..445
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          453..473
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(458,460,462,464..465,468..469,472,486,488,492..493,
                     496..497,500,514,516,518,520..521,524..525,528)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          481..501
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          509..529
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          537..557
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          553..573
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          565..583
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..618
                     /gene="ZNF311"
                     /gene_synonym="zf31"
                     /coded_by="XM_011514516.3:468..2324"
                     /db_xref="GeneID:282890"
                     /db_xref="HGNC:HGNC:13847"
ORIGIN      
        1 msqaqdsrsi lfqesvtfed vavnftnrew qcltyaqrhl ykdvmlenyg nmvslgfpfp
       61 kpplishler evdpcvqdpq dreslscsyp vsadkmwpen ekassqqeif engeaywmkf
      121 nsllkvdsrd pkvrevcvqd vklenqwets ireklreeke gseevtckkg knqkvlsknl
      181 npnskhsqcn kvliaqklhe carcgknfsw hsdlilheqi hsgekphvcn ecgkafktrn
      241 qlsmhriiht gekpfnctqc gkafnsrsal crhkkthsge kphecrdcgk afktrnrlcm
      301 hqlihtgekp ykcnccgkaf qfkhsltihg rihtgekpye ceecgkafsg ssdltkhiri
      361 htgerpyecs kcgrafsrss dlskhkriht rekhygcpqc gkdfsikael tkhrrihtee
      421 kryrceecgk afrhnckrra herehtgekp yqcrdcgktf qdkhcltihq rihtgekpyk
      481 clecgkafsg ksnltnhrri htgekphkce vcgmafhhss vlrqhkriht gekpytcsec
      541 gtsfrqgsal ighkrvhtge kpyeceecgk afrvssnltg hkkrkhqvws theldgsrks
      601 lspvtvsqts vvsiltsa
//
LOCUS       XP_047275339             957 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-1(XXI) chain isoform X1 [Homo sapiens].
ACCESSION   XP_047275339
VERSION     XP_047275339.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419383.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..957
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..957
                     /product="collagen alpha-1(XXI) chain isoform X1"
                     /calculated_mol_wt=99238
     Region          34..254
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Site            order(43,114,144)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238119"
     Region          230..412
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cl22861"
                     /db_xref="CDD:451433"
     Region          <447..>677
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <598..>933
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     CDS             1..957
                     /gene="COL21A1"
                     /gene_synonym="COLA1L; FP633"
                     /coded_by="XM_047419383.1:285..3158"
                     /db_xref="GeneID:81578"
                     /db_xref="HGNC:HGNC:17025"
                     /db_xref="MIM:610002"
ORIGIN      
        1 mahyitflcm vlvlllqnsv laedgevrss crtaptdlvf ildgsysvgp enfeivkkwl
       61 vnitknfdig pkfiqvgvvq ysdypvleip lgsydsgehl taavesilyl ggntktgkai
      121 qfaldylfak ssrfltkiav vltdgksqdd vkdaaqaard skitlfaigv gsetedaelr
      181 aiankpssty vfyvedyiai skirevmkqk lceesvcptr ipvaarderg fdillgldvn
      241 kkvkkriqls pkkikgyevt skvdlselts nvfpeglpps yvfvstqrfk vkkiwdlwri
      301 ltidgrpqia vtlngvdkil lftttsving sqvvtfanpq vktlfdegwh qirllvteqd
      361 vtlyiddqqi enkplhpvlg ilingqtqig kysgkeetvq fdvqklriyc dpeqnnreta
      421 ceipgfngec lngpsdvgst papcicppgk pglqgpkgdp glpgnpgypg qpgqdgkpgy
      481 qgiagtpgvp gspgiqgarg lpgykgepgr dgdkgdrglp gfpglhgmpg skgemgakgd
      541 kgspgfygkk gakgekgnag fpglpgpage pgrhgkdglm gspgfkgeag spgapgqdgt
      601 rgepgipgfp gnrglmgqkg eigppgqqgk kgapgmpglm gsngspgqpg tpgskgskge
      661 pgiqgmpgas glkgepgatg spgepgymgl pgiqgkkgdk gnqgekgiqg qkgengrqgi
      721 pgqqgiqghh gakgergekg epgvrgaigs kgesgvdglm gpagpkgqpg dpgpqgppgl
      781 dgkpgrefse qfirqvctdv iraqlpvllq sgrirncdhc lsqhgspgip gppgpigpeg
      841 prglpglpgr dgvpglvgvp grpgvrglkg lpgrngekgs qgfgypgeqg ppgppgpegp
      901 pgiskegppg dpglpgkdgd hgkpgiqgqp gppgicdpsl cfsviarrdp frkgpny
//
LOCUS       XP_047275816             568 aa            linear   PRI 20-MAR-2023
DEFINITION  probable E3 ubiquitin-protein ligase DTX2 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047275816
VERSION     XP_047275816.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419860.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..568
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..568
                     /product="probable E3 ubiquitin-protein ligase DTX2
                     isoform X3"
                     /calculated_mol_wt=61240
     Region          21..105
                     /region_name="WWE"
                     /note="Domain in Deltex and TRIP12 homologues. Possibly
                     involved in regulation of ubiquitin-mediated proteolysis;
                     smart00678"
                     /db_xref="CDD:128922"
     Region          110..181
                     /region_name="WWE"
                     /note="Domain in Deltex and TRIP12 homologues. Possibly
                     involved in regulation of ubiquitin-mediated proteolysis;
                     smart00678"
                     /db_xref="CDD:128922"
     Region          <166..394
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          411..>463
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Region          <460..560
                     /region_name="DTC"
                     /note="Deltex C-terminal domain; pfam18102"
                     /db_xref="CDD:436275"
     CDS             1..568
                     /gene="DTX2"
                     /gene_synonym="RNF58"
                     /coded_by="XM_047419860.1:589..2295"
                     /db_xref="GeneID:113878"
                     /db_xref="HGNC:HGNC:15973"
                     /db_xref="MIM:613141"
ORIGIN      
        1 mamapspslv qvytspaava vwewqdglgt whpysatvcs fieqqfvqqk gqrfglgsla
       61 hsiplgqadp slapyiidlp swtqfrqdtg tmravrrhlf pqhsapgrgv vwewlsddgs
      121 wtayeasvcd yleqqvargn qlvdlaplgy nytvnyttht qtnktssfcr svrrqagppy
      181 pvttiiappg htgvacschq clsgsrtgpv sgryrhsmtn lpaypvpqhp phrtasvfgt
      241 hqafapynkp slsgarsapr lnttnawgaa ppslgsqply rsslshlgpq hlppgsstsg
      301 avsaslpsgp ssspgsvpat vpmqmpkpsr vqqalagmts vlmsaiglpv clsrapqpts
      361 ppasrlasks hgsvkrlrkm svkgatpkpe pepeqvikny teelkvppde dciicmekls
      421 tasgysdvtd skaigslavg hltkcshafh llcllamycn gnkgpehpnp gkpftargfp
      481 rqcylpdnaq grkvlellkv awkrrliftv gtssttgetd tvvwneihhk temdrnitgh
      541 gypdpnylqn vlaelaaqgv tedcleqq
//
LOCUS       XP_047277805            2545 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase UBR5 isoform X5 [Homo sapiens].
ACCESSION   XP_047277805
VERSION     XP_047277805.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421849.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2545
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..2545
                     /product="E3 ubiquitin-protein ligase UBR5 isoform X5"
                     /calculated_mol_wt=282045
     Region          917..992
                     /region_name="UBR-box_UBR5"
                     /note="UBR-box found in HECT-type E3 ubiquitin-protein
                     ligase UBR5 and similar proteins; cd19675"
                     /db_xref="CDD:439073"
     Site            order(942,945,954,957,961..962,965,978,980,986)
                     /site_type="other"
                     /note="putative Zn binding site [ion binding]"
                     /db_xref="CDD:439073"
     Region          2135..2198
                     /region_name="PolyA"
                     /note="C-terminal domain of Poly(A)-binding protein.
                     Present also in Drosophila hyperplastics discs protein;
                     smart00517"
                     /db_xref="CDD:197769"
     Region          2247..2542
                     /region_name="HECTc"
                     /note="Domain Homologous to E6-AP Carboxyl Terminus with;
                     smart00119"
                     /db_xref="CDD:214523"
     Site            order(2321,2324..2325,2327..2328,2337,2344,2346,
                     2350..2351,2358,2363,2380,2384)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..2545
                     /gene="UBR5"
                     /gene_synonym="DD5; EDD; EDD1; HYD"
                     /coded_by="XM_047421849.1:683..8320"
                     /db_xref="GeneID:51366"
                     /db_xref="HGNC:HGNC:16806"
                     /db_xref="MIM:608413"
ORIGIN      
        1 mslldadihs ahpsviidad amfsedisyf gypsfrrssl srlgssrerd sellreresv
       61 lrlrerrwld gasfdnergs tskegepnld kkntpvqspv slgedlqwwp dkdgtkfici
      121 galysellav sskgelyqwk wsesepyrna qnpslhhpra tflgltneki vllsansira
      181 tvatennkva twvdetlssv asklehtaqt yselqgeriv slhccalytc aqlenslyww
      241 gvvpfsqrkk mlekaraknk kpkssagiss mpnitvgtqv clrnnplyha gavafsisag
      301 ipkvgvlmes vwnmndscrf qlrspeslkn mekaskttea kpeskqepvk temgpppspa
      361 stcsdassia ssasmpykrr rstpapkeee kvneeqwslr evvfvedvkn vpvgkvlkvd
      421 gayvavkfpg tssntncqns sgpdadpssl lqdcrllrid elqvvktggt pkvpdcfqrt
      481 pkklcipekt eilavnvdsk gvhavlktgn wvrycifdla tgkaeqennf ptssiaflgq
      541 nernvaifta gqespiilrd gngtiypmak dcmggirdpd wldlppissl gmgvhslinl
      601 panstikkka aviimavekq tlmqhilrcd yeacrqylmn leqavvleqn lqmlqtfish
      661 rcdgnrnilh acvsvcfpts nketkeeeea erserntfae rlsaveaian aisvvssngp
      721 gnragssssr slrlremmrr slraaglgrh eagasssdhq dpvsppiapp swvpdppamd
      781 pdgdidfila pavgslttaa tgtgqgpsts tipgpsteps vveskdrkan ahfilkllcd
      841 svvlqpylre llsakdargm tpfmsavsgr aypaaitile taqkiakaei sssekeedvf
      901 mgmvcpsgtn pddsplyvlc cndtcsftwt gaehinqdif ecrtcglles lccctecarv
      961 chkghdcklk rtsptaycdc wekckcktli agqksarldl lyrlltatnl vtlpnsrgeh
     1021 lllflvqtva rqtvehcqyr ppriredrnr ktaspedsdm pdhdlepprf aqlalervlq
     1081 dwnalksmim fgsqenkdpl sassrighll peeqvylnqq sgtirldcft hclivkctad
     1141 illldtllgt lvkelqnkyt pgrreeaiav tmrflrsvar vfvilsvema sskkknnfip
     1201 qpigkckrvf qallpyavee lcnvaesliv pvrmgiarpt apftlastsi damqgseelf
     1261 sveplpprps sdqsssssqs qssyiirnpq qrrisqsqpv rgrdeeqddi vsadveevev
     1321 vegvageedh hdeqeehgee naeaegqhde hdedgsdmel dllaaaetes dsesnhsnqd
     1381 nasgrrsvvt aatagseaga ssvpaffsed dsqsndssds dssssqsddi eqetfmldep
     1441 lerttnssha ngaaqaprsm qwavrntqhq raastapsst stpaassagl iyidpsnlrr
     1501 sgtistsaaa aaaaleasna ssyltsassl araysivirq isdlmglipk ynhlvysqip
     1561 aavkltyqda vnlqnyveek liptwnwmvs imdsteaqlr ygsalasagd pghpnhplha
     1621 sqnsarrerm tareeaslrt legrrratll sarqgmmsar gdflnyalsl mrshndehsd
     1681 vlpvldvcsl khvayvfqal iywikamnqq ttldtpqler krtrellelg idnedsehen
     1741 dddtnqsatl ndkdddslpa etgqnhpffr rsdsmtflgc ippnpfevpl aeaipladqp
     1801 hllqpnarke dlfgrpsqgl ysssassgkc lmevtvdrnc levlptkmsy aanlknvmnm
     1861 qnrqkkegee qpvlpeetes skpgpsahdl aaqlksslla eigltesegp pltsfrpqcs
     1921 fmgmvishdm llgrwrlsle lfgrvfmedv gaepgsilte lggfevkesk frremeklrn
     1981 qqsrdlslev drdrdlliqq tmrqlnnhfg rrcattpmav hrvkvtfkde pgegsgvars
     2041 fytaiaqafl sneklpnlec iqnankgtht slmqrlrnrg erdrererer emrrssglra
     2101 gsrrdrdrdf rrqlsidtrp frpasegnps ddpeplpahr qalgerlypr vqamqpafas
     2161 kitgmllels paqlllllas edslrarvde ameliiahgr engadsildl glvdssekvq
     2221 qenrkrhgss rsvvdmdldd tddgddnapl fyqpgkrgfy tprpgkntea rlncfrnigr
     2281 ilglcllqne lcpitlnrhv ikvllgrkvn whdfaffdpv myeslrqlil asqssdadav
     2341 fsamdlafai dlckeegggq velipngvni pvtpqnvyey vrkyaehrml vvaeqplham
     2401 rkglldvlpk nsledltaed frllvngcge vnvqmlisft sfndesgena ekllqfkrwf
     2461 wsivekmsmt erqdlvyfwt sspslpasee gfqpmpsiti rppddqhlpt antcisrlyv
     2521 plysskqilk qklllaiktk nfgfv
//
LOCUS       XP_047278956             271 aa            linear   PRI 20-MAR-2023
DEFINITION  ribitol-5-phosphate transferase FKTN isoform X13 [Homo sapiens].
ACCESSION   XP_047278956
VERSION     XP_047278956.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423000.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..271
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..271
                     /product="ribitol-5-phosphate transferase FKTN isoform
                     X13"
                     /calculated_mol_wt=31402
     Region          1..261
                     /region_name="FKTN_N"
                     /note="Fukutin N-terminal; pfam19737"
                     /db_xref="CDD:437569"
     CDS             1..271
                     /gene="FKTN"
                     /gene_synonym="CMD1X; FCMD; LGMD2M; LGMDR13; MDDGA4;
                     MDDGB4; MDDGC4"
                     /coded_by="XM_047423000.1:462..1277"
                     /db_xref="GeneID:2218"
                     /db_xref="HGNC:HGNC:3622"
                     /db_xref="MIM:607440"
ORIGIN      
        1 msrinknvvl alltltssaf llfqlyyykh ylstkngagl skskgsrigf dstqwravkk
       61 fimltsnqnv pvflidplil elinknfeqv kntshgstsq ckffcvprdf tafalqyhlw
      121 kneegwfria enmgfqclki eskdprldgi dslsgteipl hyicklatha ihlvvfhers
      181 gnylwhghlr lkehidrkfv pfrklqfgry pgafdrpelq qvtvdglevl ipkdpmhfve
      241 evphsrfiec rykearaffq ipvsevytvl d
//
LOCUS       XP_047279591             928 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein phosphatase non-receptor type 3 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047279591
VERSION     XP_047279591.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423635.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..928
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..928
                     /product="tyrosine-protein phosphatase non-receptor type 3
                     isoform X3"
                     /calculated_mol_wt=105412
     Region          91..282
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          276..369
                     /region_name="FERM_C_PTPN4_PTPN3_like"
                     /note="FERM domain C-lobe of Protein tyrosine phosphatase
                     non-receptor proteins 3 and 4 (PTPN4 and PTPN3); cd13189"
                     /db_xref="CDD:270010"
     Site            order(286,303,305,311)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270010"
     Site            order(315,320..323,358,362,365..366)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270010"
     Site            358..369
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270010"
     Region          523..610
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(535..538,540,590..591,594..595)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          646..919
                     /region_name="PTPc-N3"
                     /note="catalytic domain of tyrosine-protein phosphatase
                     non-receptor type 3; cd14600"
                     /db_xref="CDD:350448"
     CDS             1..928
                     /gene="PTPN3"
                     /gene_synonym="PTP-H1; PTPH1"
                     /coded_by="XM_047423635.1:105..2891"
                     /db_xref="GeneID:5774"
                     /db_xref="HGNC:HGNC:9655"
                     /db_xref="MIM:176877"
ORIGIN      
        1 mrwpvsalpl lliinpgtaa ceagrafrhh vthsspgllq kweeviyyis silkgysaiv
       61 mtsrlralgg rinnirtsel pkektrsevi csihfldgvv qtfkvtkqdt gqvlldmvhn
      121 hlgvtekeyf glqhdddsvd sprwleaska irkqlkggfp ctlhfrvrff ipdpntlqqe
      181 qtrhlyflql kmdicegrlt cplnsavvla syavqshfgd ynssihhpgy lsdshfipdq
      241 nedfltkves lheqhsglkq seaescyini artldfygve lhsgrdlhnl dlmigiasag
      301 vavyrkyict sfypwvnilk isfkrkkffi hqrqkqaesr ehivafnmln yrscknlwks
      361 cvehhtffqa kkllpqeknv lsqywtmgsr ntkkrsprlr heirkprhss adnlanemty
      421 itetedvfyt ykgslapqds dsevsqnrsp hqeslsennp aqsyltqkss ssvspssnap
      481 gscspdgvdq qllddfhrvt kggstedasq yycdkndngd sylvliritp dedgkfgfnl
      541 kggvdqkmpl vvsrinpesp adtcipklne gdqivlingr disehthdqv vmfikasres
      601 hsrelalvir rravrsfadf ksedelnqlf peaifpmcpe ggdtlegsma qlkkglesgt
      661 vliqfeqlyr kkpglaitfa klpqnldknr ykdvlpydtt rvllqgnedy inasyvnmei
      721 paanlvnkyi atqgplphtc aqfwqvvwdq klslivmltt ltergrtkch qywpdppdvm
      781 nhggfhiqcq sedctiayvs remlvtntqt geehtvthlq yvawpdhgvp ddssdflefv
      841 nyvrslrvds epvlvhcsag igrtgvlvtm etamcltern lpiypldivr kmrdqrammv
      901 qtssqykfvc eailrvyeeg lvqmldps
//
LOCUS       XP_047297890            1060 aa            linear   PRI 20-MAR-2023
DEFINITION  histone lysine demethylase PHF8 isoform X2 [Homo sapiens].
ACCESSION   XP_047297890
VERSION     XP_047297890.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441934.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1060
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1060
                     /product="histone lysine demethylase PHF8 isoform X2"
                     /calculated_mol_wt=117733
     Region          42..93
                     /region_name="PHD_PHF8"
                     /note="PHD finger found in histone lysine demethylase
                     PHF8; cd15642"
                     /db_xref="CDD:277112"
     Site            order(43,50,52,55..58,65,78,81)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:277112"
     Site            order(44,46,59,62,67,70,86,89)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:277112"
     Region          235..298
                     /region_name="JmjC"
                     /note="A domain family that is part of the cupin
                     metalloenzyme superfamily; smart00558"
                     /db_xref="CDD:214721"
     Region          270..370
                     /region_name="cupin_RmlC-like"
                     /note="RmlC-like cupin superfamily; cl40423"
                     /db_xref="CDD:454753"
     Region          374..477
                     /region_name="JHD"
                     /note="Jumonji helical domain; pfam17811"
                     /db_xref="CDD:436061"
     CDS             1..1060
                     /gene="PHF8"
                     /gene_synonym="JHDM1F; KDM7B; MRXSSD; ZNF422"
                     /coded_by="XM_047441934.1:122..3304"
                     /db_xref="GeneID:23133"
                     /db_xref="HGNC:HGNC:20672"
                     /db_xref="MIM:300560"
ORIGIN      
        1 mnrsraivqr grvlpppapl dttnlagrrt lqgrakmasv pvyclcrlpy dvtrfmiecd
       61 mcqdwfhgsc vgveeekaad idlyhcpnce vlhgpsimkk rrgsskghdt hkgkpvktgs
      121 ptfvrelrsr tfdssdevil kptgnqltve fleensfsvp ilvlkkdglg mtlpspsftv
      181 rdvehyvgsd keidvidvtr qadckmklgd fvkyyysgkr ekvlnvisle fsdtrlsnlv
      241 etpkivrkls wvenlwpeec vferpnvqky clmsvrdsyt dfhidfggts vwyhvlkgek
      301 ifylirptna nltlfecwss ssnqnemffg dqvdkcykcs vkqgqtlfip tgwihavltp
      361 vdclafggnf lhslniemql kayeiekrls tadlfrfpnf eticwyvgkh ildifrglre
      421 nrrhpasylv hggkalnlaf rawtrkealp dhedeipetv rtvqlikdla reirlvedif
      481 qqnvgktsni fglqrifpag sipltrpahs tsvsmsrlsl pskngskkkg lkpkelfkka
      541 erkgkessal gpagqlsynl mdtyshqalk tgsfqkakfn itgaclndsd ddspdldldg
      601 nesplallms ngstkrvksl sksrrtkiak kvdkarlmae qvmedefdld sddelqider
      661 lgkekatlii rpkfprklpr akpcsdpnrv repgevefdi eedyttdedm vegvegklgn
      721 gsgaggildl lkasrqvggp dyaalteapa spstqeaiqg mlcmanlqss ssspatsslq
      781 awwtggqdrs sgssssglgt vsnspasqrt pgkrpikrpa ywrteseeee enasldeqds
      841 lgacfkdaey iypslesddd dpalksrpkk kknsddapws pkarvtptlp kqdrpvregt
      901 rvasietgla aaaaklaqqe lqkaqkkkyi kkkpllkeve qprpqdsnls ltvpaptvaa
      961 tpqlvtsssp lpppepkqea lsgsladhey tarpnafgma qanrsttpma pgvfltqrrp
     1021 svgsqsnqag qgkrpkkgla takqrlgril kihrngklll
//
LOCUS       XP_047298103             547 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase PAK 3 isoform X3 [Homo sapiens].
ACCESSION   XP_047298103
VERSION     XP_047298103.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442147.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..547
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..547
                     /product="serine/threonine-protein kinase PAK 3 isoform
                     X3"
                     /calculated_mol_wt=60869
     Region          69..126
                     /region_name="PBD"
                     /note="P21-Rho-binding domain; pfam00786"
                     /db_xref="CDD:395634"
     Site            order(70,73,76,78,81,98,102)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238526"
     Region          260..515
                     /region_name="STKc_PAK_I"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Group I p21-activated kinase; cd06647"
                     /db_xref="CDD:270814"
     Site            order(274..278,282,295,297,326,342..346,348..349,352,387,
                     389..392,394,404..405,408,421..425,427,454,463..465)
                     /site_type="active"
                     /db_xref="CDD:270814"
     Site            order(274..278,282,295,297,326,342..346,348..349,352,
                     391..392,394,404..405)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270814"
     Site            order(277..278,387,389..391,408,421..425,427,454,463..465)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270814"
     Site            order(279,313,382,384..387,405..406,433..434,436,441,466,
                     469,472)
                     /site_type="other"
                     /note="AID interaction site [polypeptide binding]"
                     /db_xref="CDD:270814"
     Site            404..427
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270814"
     CDS             1..547
                     /gene="PAK3"
                     /gene_synonym="ARA; beta-PAK; bPAK; MRX30; MRX47; OPHN3;
                     PAK-3; PAK3beta; XLID30"
                     /coded_by="XM_047442147.1:625..2268"
                     /db_xref="GeneID:5063"
                     /db_xref="HGNC:HGNC:8592"
                     /db_xref="MIM:300142"
ORIGIN      
        1 msdgldneek ppapplrmns nnrdssalnh sskplpmape eknkkarlrs ifpgggdktn
       61 kkkekerpei slpsdfehti hvgfdavtge ftgipeqwar llqtsnitkl eqkknpqavl
      121 dvlkfydske tvnnqkymsf tsgdksahgy iaahpsstkt asepplappv seeedeeeee
      181 eedenepppv iaprpehtks iytrsvvesi aspavpnkev tppsaenans stlyrntdrq
      241 rkkskmtdee ileklrsivs vgdpkkkytr fekigqgasg tvytaldiat gqevaikqmn
      301 lqqqpkkeli ineilvmren knpnivnyld sylvgdelwv vmeylaggsl tdvvtetcmd
      361 egqiaavcre clqaldflhs nqvihrdiks dnillgmdgs vkltdfgfca qitpeqskrs
      421 tmvgtpywma pevvtrkayg pkvdiwslgi maiemvegep pylnenplra lyliatngtp
      481 elqnperlsa vfrdflnrcl emdvdrrgsa kellqvllag gnslhnyaii smafatlmlc
      541 wskplcl
//
LOCUS       XP_016885229             609 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of nonsense transcripts 3B isoform X4 [Homo sapiens].
ACCESSION   XP_016885229
VERSION     XP_016885229.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029740.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..609
                     /product="regulator of nonsense transcripts 3B isoform X4"
                     /calculated_mol_wt=72019
     Region          50..137
                     /region_name="RRM_like_Smg4_UPF3B"
                     /note="RNA recognition motif (RRM)-like Smg4_UPF3 domain
                     in up-frameshift suppressor 3 homolog B on chromosome X
                     (Upf3B); cd12728"
                     /db_xref="CDD:410127"
     Site            order(50..60,62..73,75..103,105..137)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410127"
     CDS             1..609
                     /gene="UPF3B"
                     /gene_synonym="HUPF3B; MRX62; MRX82; MRXS14; RENT3B;
                     UPF3BP1; UPF3BP2; UPF3BP3; Upf3p-X; UPF3X"
                     /coded_by="XM_017029740.2:36..1865"
                     /db_xref="GeneID:65109"
                     /db_xref="HGNC:HGNC:20439"
                     /db_xref="MIM:300298"
ORIGIN      
        1 mkeekehrpk ekrvtlltpa gatgsgggts gdsskgedkq drnkekkeal skvvirrlpp
       61 tltkeqlqeh lqpmpehdyf effsndtsly phmyarayin fknqediilf rdrfdgyvfl
      121 dnkgqeypai vefapfqkaa kkktkkrdtk vgtidddpey rkflesyatd nekmtstpet
      181 lleeieaknr eliakkttpl lsflknkqrm reekreerrr reierkrqre eerrkwkeee
      241 krkrkdiekl kkidriperd klkdepkikv hrfllqavnq knllkkpekg dekeldkrek
      301 akkldkenls derasgqsct lpkrsdselk dekpkrpede sgrdyrerer eyerdqeril
      361 rererlkrqe eerrrqkery ekektfkrke eemkkekdtl rdkgkkaest esigssekte
      421 kkeevvkrdr irnkdrpamq lyqpgarsrn rlcppddstk sgdsaaerkq grpgmqsyhp
      481 gvqshyqhyf pddstnyrys pveekqdcpw mqcyhrgarg rgrlwhpddk sgdsaverkq
      541 nhpgmqryhp garsqgrlsh pdditksgds averkqesci shtkeeerlg vmvhacnpst
      601 lggrggwit
//
LOCUS       XP_006724899             310 aa            linear   PRI 20-MAR-2023
DEFINITION  tafazzin isoform X1 [Homo sapiens].
ACCESSION   XP_006724899
VERSION     XP_006724899.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006724836.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..310
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..310
                     /product="tafazzin isoform X1"
                     /calculated_mol_wt=35099
     Region          56..289
                     /region_name="LPLAT_AGPAT-like"
                     /note="Lysophospholipid Acyltransferases (LPLATs) of
                     Glycerophospholipid Biosynthesis: AGPAT-like; cd07989"
                     /db_xref="CDD:153251"
     Site            order(87,90,92,116..119,199..201)
                     /site_type="active"
                     /note="putative acyl-acceptor binding pocket [active]"
                     /db_xref="CDD:153251"
     CDS             1..310
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /coded_by="XM_006724836.2:306..1238"
                     /db_xref="GeneID:6901"
                     /db_xref="HGNC:HGNC:11577"
                     /db_xref="MIM:300394"
ORIGIN      
        1 mplhvkwpfp avppltwtla ssvvmglvgt yscfwtsewa qaeagppgyp cpageymnhl
       61 tvhnrevlye liekrgpatp litvsnhqsc mddphlwgil klrhiwnlkl mrwtpaaadi
      121 cftkelhshf fslgkcvpvc rgaeffqaen egkgvldtgr hmpgagkrre kgdgvyqkgm
      181 dfileklnhg dwvhifpegk vnmsseflrf kwgigrliae chlnpiilpl whvgmndvlp
      241 nsppyfprfg qkitvligkp fsalpvlerl raenksavem rkaltdfiqe efqhlktqae
      301 qlhnhlqpgr
//
LOCUS       XP_054184673             352 aa            linear   PRI 20-MAR-2023
DEFINITION  putative speedy protein E16 isoform X4 [Homo sapiens].
ACCESSION   XP_054184673
VERSION     XP_054184673.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328698.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187561.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..352
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     Protein         1..352
                     /product="putative speedy protein E16 isoform X4"
                     /calculated_mol_wt=41696
     CDS             1..352
                     /gene="SPDYE16"
                     /coded_by="XM_054328698.1:518..1576"
                     /db_xref="GeneID:102723555"
                     /db_xref="HGNC:HGNC:51512"
ORIGIN      
        1 mdrtetrfrk rgqikgkitt srqphpqneq spqrstsgys lqevvddevl gssapgvdps
       61 ppcrslgwkr kkewsdesee epekelapep eetwvvemlc glkmklkqqr vspilpehhk
      121 dfnsqlapgv dpspphrsfc wkrkrewwde seesleeepr kvlapepeei wvaemlcglk
      181 mklkrrrvsl vlpehheafn rlledpvikr flawdkdlrv sdkyllamvi ayfsraglps
      241 wqyqrihffl alylandmee ddedpkqnif yflygktrsr iplvrnrrfq lcrclnprar
      301 knrsqialfq klrfqffcsm sgrawvsree leeiqaydpe hwvwardrar ls
//
LOCUS       XP_054184948             154 aa            linear   PRI 20-MAR-2023
DEFINITION  interferon alpha-inducible protein 27, mitochondrial isoform X1
            [Homo sapiens].
ACCESSION   XP_054184948
VERSION     XP_054184948.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328973.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187601.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..154
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12-32.13"
     Protein         1..154
                     /product="interferon alpha-inducible protein 27,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=16381
     CDS             1..154
                     /gene="IFI27"
                     /gene_synonym="FAM14D; ISG12; ISG12A; P27"
                     /coded_by="XM_054328973.1:16..480"
                     /db_xref="GeneID:3429"
                     /db_xref="HGNC:HGNC:5397"
                     /db_xref="MIM:600009"
ORIGIN      
        1 mgsasvgvel lkrpgitpfg ntsklktvrs ashsqelsff gqdcyscdwr scghggcahg
       61 aqchglhcgg nrlvlhssqd dvrgghcqwg wsclgqpcgy savtgsnwtl ridqvhpglh
      121 wvchcgchce vllapcpspc reenhargeg tqps
//
LOCUS       XP_054185029             773 aa            linear   PRI 20-MAR-2023
DEFINITION  pyridoxal-dependent decarboxylase domain-containing protein 1
            isoform X1 [Homo sapiens].
ACCESSION   XP_054185029
VERSION     XP_054185029.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329054.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187607.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..773
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.12-12.3"
     Protein         1..773
                     /product="pyridoxal-dependent decarboxylase
                     domain-containing protein 1 isoform X1"
                     /calculated_mol_wt=84990
     CDS             1..773
                     /gene="PDXDC1"
                     /gene_synonym="LP8165"
                     /coded_by="XM_054329054.1:182..2503"
                     /db_xref="GeneID:23042"
                     /db_xref="HGNC:HGNC:28995"
                     /db_xref="MIM:614244"
ORIGIN      
        1 mgknlkeavk mledsqrrte eengkklisg dipgplqgsg qdmvsilqlv qnlmhgdede
       61 epqspriqni geqghmallg hslgayistl dkeklrkltt rilsdttlwl crifryengc
      121 ayfheeereg lakicrlaih sryedfvvdg fnvlynkkpv iylsaaarpg lgqylcnqlg
      181 lpfpclcrvp cntvfgsqhq mdvaflekli kddiergrlp lllvanagta avghtdkigr
      241 lkelceqygi wlhvegvnla tlalgyvsss vlaaakcdsm tmtpgpwlgl pavpavtlyk
      301 hddpaltlva gltsnkptdk lralplwlsl qylgldgfve rikhacqlsq rlqeslkkvn
      361 yikilvedel sspvvvfrff qelpgsdpvf kavpvpnmtp sgvgrerhsc dalnrwlgeq
      421 lkqlvpasgl tvmdleaegt clrfsplmta avlgtrgedv dqlvaciesk lpvlcctlql
      481 reefkqevea tagllyvddp nwsgigvvry ehanddkssl ksdpegenih agllkklnel
      541 esdltfkigp eyksmkscly vgmasdnvda aelvetiaat areieensrl lenmtevvrk
      601 giqeaqvelq kaseerllee gvlrqipvvg svlnwfspvq alqkgrtfnl tagslestep
      661 iyvykaqgag vtlpptpsgs rtkqrlpgqk pfkrslrgsd alsetssvsh iedlekverl
      721 ssgpeqitle assteghpga pspqhtdqte afqkgvphpe ddhsqvegpe slr
//
LOCUS       XP_054186572             343 aa            linear   PRI 20-MAR-2023
DEFINITION  HLA class I histocompatibility antigen, alpha chain F isoform X2
            [Homo sapiens].
ACCESSION   XP_054186572
VERSION     XP_054186572.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330597.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167246.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..343
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..343
                     /product="HLA class I histocompatibility antigen, alpha
                     chain F isoform X2"
                     /calculated_mol_wt=38537
     CDS             1..343
                     /gene="HLA-F"
                     /gene_synonym="CDA12; HLA-5.4; HLA-CDA12; HLAF"
                     /coded_by="XM_054330597.1:31..1062"
                     /db_xref="GeneID:3134"
                     /db_xref="HGNC:HGNC:4963"
                     /db_xref="MIM:143110"
ORIGIN      
        1 maprslllll sgalaltdtw agshslryfs tavsrpgrge pryiaveyvd dtqflrfdsd
       61 aaiprmepre pwveqegpqy wewttgyaka naqtdrvalr nllrrynqse agshtlqgmn
      121 gcdmgpdgrl lrgyhqhayd gkdyislned lrswtaadtv aqitqrfyea eeyaeefrty
      181 legeclellr rylengketl qradppkahv ahhpisdhea tlrcwalgfy paeitltwqr
      241 dgeeqtqdte lvetrpagdg tfqkwaavvv psgeeqrytc hvqheglpqp lilrweqspq
      301 ptipivgiva glvvlgavvt gavvaavmwr kkssgkltht gvq
//
LOCUS       XP_054189000             584 aa            linear   PRI 20-MAR-2023
DEFINITION  cell cycle checkpoint protein RAD17 isoform X2 [Homo sapiens].
ACCESSION   XP_054189000
VERSION     XP_054189000.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333025.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791777) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..584
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="unlocalized"
     Protein         1..584
                     /product="cell cycle checkpoint protein RAD17 isoform X2"
                     /calculated_mol_wt=66025
     CDS             1..584
                     /gene="RAD17"
                     /gene_synonym="CCYC; HRAD17; R24L; RAD17SP; RAD24"
                     /coded_by="XM_054333025.1:533..2287"
                     /db_xref="GeneID:5884"
                     /db_xref="HGNC:HGNC:9807"
                     /db_xref="MIM:603139"
ORIGIN      
        1 mnqhelavhk kkieevetwl kaqvlerqpk qggsillitg ppgcgktttl kilskehgiq
       61 vqewinpvlp dfqkddfkgm fntessfhmf pyqsqiavfk efllratkyn klqmlgddlr
      121 tdkkiilved lpnqfyrdsh tlhevlrkyv rigrcplifi isdslsgdnn qrllfpkeiq
      181 eecsisnisf npvaptimmk flnrivtiea nknggkitvp dktslellcq gcsgdirsai
      241 nslqfssskg ennlrprkkg mslksdavls kskrrkkpdr vfenqevqai ggkdvslflf
      301 ralgkilyck raslteldsp rlpshlseye rdtllvepee vvemshmpgd lfnlylhqny
      361 idffmeiddi vraseflsfa dilsgdwntr sllreystsi atrgvmhsnk argyahcqgg
      421 gssfrplhkp qwflinkkyr enclaakalf pdfclpalcl qtqllpylal ltipmrnqaq
      481 isfiqdigrl plkrhfgrlk mealtdrehg midpdsgdea qlngghsaee slgeptqatv
      541 petwslplsq nsaselpasq pqpfsaqgdm eeniiiedye sdgt
//
LOCUS       XP_054188691             726 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger SWIM domain-containing protein 4 isoform X9 [Homo
            sapiens].
ACCESSION   XP_054188691
VERSION     XP_054188691.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332716.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_021160022.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..726
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13-13.12"
     Protein         1..726
                     /product="zinc finger SWIM domain-containing protein 4
                     isoform X9"
                     /calculated_mol_wt=80701
     CDS             1..726
                     /gene="ZSWIM4"
                     /coded_by="XM_054332716.1:207..2387"
                     /db_xref="GeneID:65249"
                     /db_xref="HGNC:HGNC:25704"
ORIGIN      
        1 meppaakrsr gcpagpeerd agagaargrg rpealldlsa krvaeswafe qveerfsrvp
       61 epvqkrivfw sfprsereic mysslgyppp egehdarvpf trglhllqsg avdrvlqvgf
      121 hlsgnirepg spgeperlyh vsisfdrcki tsvscgcdnr dlfycahvva lslyrirhah
      181 qvelrlpise tlsqmnrdql qkfvqylisa hhtevlptaq rladeilllg seinlvngap
      241 dptagagied ancwhldeeq iqeqvkqlls nggyygasqq lrsmfskvre mlrmrdsnga
      301 rmlilmteqf lqdtrlalwr qqgagmtdkc rqlwdelgal wvcvvlsphc kpeeragwlq
      361 llsrwdkldv cpleegnysf dgpslqptma papgseeeee vaatsprhtv fgrallagel
      421 hwndaylqri lasdsygpsl tgsvggdkpt fdpqgrplwl gepfptacar vdtlrahgyp
      481 rqalrlasai intlrlqqrh qlesykqqkk etwagvwals plfppaellq kgstcitnte
      541 gwvghpldpi gclcrallea crleeetltl ypdsgpekrk vayqhvpvpg spgesylvla
      601 levallglgq qralpeglya qdkvvrneeq llalleevel derlvqvlrk qagllleggp
      661 fsgfgevlfr esvpmhtcar ylftallphd pdlayrlalr amrrpqvaah gtglhpaehp
      721 lsgpal
//
LOCUS       XP_054193052             144 aa            linear   PRI 20-MAR-2023
DEFINITION  phospholipase A2, membrane associated isoform X1 [Homo sapiens].
ACCESSION   XP_054193052
VERSION     XP_054193052.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337077.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..144
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..144
                     /product="phospholipase A2, membrane associated isoform
                     X1"
                     /calculated_mol_wt=15952
     CDS             1..144
                     /gene="PLA2G2A"
                     /gene_synonym="MOM1; PLA2; PLA2B; PLA2L; PLA2S; PLAS1;
                     sPLA2"
                     /coded_by="XM_054337077.1:404..838"
                     /db_xref="GeneID:5320"
                     /db_xref="HGNC:HGNC:9031"
                     /db_xref="MIM:172411"
ORIGIN      
        1 mktllllavi mifgllqahg nlvnfhrmik lttgkeaals ygfygchcgv ggrgspkdat
       61 drccvthdcc ykrlekrgcg tkflsykfsn sgsritcakq dscrsqlcec dkaaatcfar
      121 nkttynkkyq yysnkhcrgs tprc
//
LOCUS       XP_054195920             449 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_054195920
VERSION     XP_054195920.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339945.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..449
                     /product="acyl-CoA:lysophosphatidylglycerol
                     acyltransferase 1 isoform X1"
                     /calculated_mol_wt=51718
     CDS             1..449
                     /gene="LPGAT1"
                     /gene_synonym="FAM34A; FAM34A1; LPLAT7; NET8"
                     /coded_by="XM_054339945.1:268..1617"
                     /db_xref="GeneID:9926"
                     /db_xref="HGNC:HGNC:28985"
                     /db_xref="MIM:610473"
ORIGIN      
        1 mtatprrgtp apalrsrpps apaevsparg prppprpfhi rgnrcrlhrl palrspllcp
       61 fhhpllpcpl kdrtessvrm aitleeapwl gwllvkalmr fafmvvnnlv aipsyicyvi
      121 ilqplrvlds krfwyiegim ykwllgmvas wgwyagytvm ewgedikavs kdeavmlvnh
      181 qatgdvctlm mclqdkglvv aqmmwlmdhi fkytnfgivs lvhgdffirq grsyrdqqll
      241 llkkhlenny rsrdrkwivl fpeggflrkr retsqafakk nnlpfltnvt lprsgatkii
      301 lnalvaqqkn gspaggdake ldskskglqw iidttiaypk aepidiqtwi lgyrkptvth
      361 vhyrifpikd vpletddltt wlyqrfveke dllshfyetg afppskghke avsremtlsn
      421 lwifliqsfa flsgymwyni iqyfyhclf
//
LOCUS       XP_054222297            1903 aa            linear   PRI 20-MAR-2023
DEFINITION  sickle tail protein homolog isoform X5 [Homo sapiens].
ACCESSION   XP_054222297
VERSION     XP_054222297.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366322.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1903
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1903
                     /product="sickle tail protein homolog isoform X5"
                     /calculated_mol_wt=209631
     CDS             1..1903
                     /gene="KIAA1217"
                     /gene_synonym="ETL4; SKT"
                     /coded_by="XM_054366322.1:57..5768"
                     /db_xref="GeneID:56243"
                     /db_xref="HGNC:HGNC:25428"
                     /db_xref="MIM:617367"
ORIGIN      
        1 meenesqkce pclpysadrr qmqeqgkgnl hvtspedaec rrtkerlsng nsrgsvskss
       61 rniprrhtlg gprsskeilg mqtsemdrkr eaflehlkqk yphhasaimg hqerlrdqtr
      121 spklshspqp pslgdpvehl setsgdslea msegdaptpf srgsrtrasl pvvrstnqtk
      181 erslgvlylq ygdetkqlrm pneitsadti ralfvsafpq qltmkmlesp svaiyikdes
      241 rnvyyelndv rniqdrsllk vynkdpahaf nhtpktmngd mrmqrelvya rgdgpgaprp
      301 gstahpphai pnsppstpvp hsmppspsri pyggtrsmvv pgnatiprdr isslpvsrpi
      361 spspsailer rdvkpdedms gkniamyrne gfyadpylyh egrmsiassh gghpldvpdh
      421 iiayhrtair sasaycnpsm qaemhmeqsl yrqksrkypd shlptlgskt ppasphrvsd
      481 lrmidmhahy nahgpphtmq pdraspsrqa fkkepgtlvy iekprsaagl sslvdlgppl
      541 mekqvfayst atipkdretr ermqamekqi asltglvqsa lfkgpitsys kdassekmmk
      601 ttanrnhtds agtphvsggk mlsalestvp psqpppvgts aihmsllemr rsvaelrlql
      661 qqmrqlqlqn qellrammkk aeleisgkvm etmkrledpv qrqrvlveqe rqkylheeek
      721 ivkklceled fvedlkkdst aasrlvtlkd vedgafllrq vgeavatlkg efptlqnkmr
      781 ailrieveav rflkeephkl dsllkrvrsm tdvltmlrrh vtdgllkgtd aaqaaqymam
      841 ekataaevlk sqeeaahtsg qpfhstgapg daksevvpls gmmvrhtqss pvviqpsqhs
      901 vallnpaqnl phvasspavp qeatstlqms qapqspqipm ngsamqslfi eeihsvsakn
      961 ravsiekaek kweekrqnld hyngkefekl leeaqanimk sipnlemppa tgplprgdap
     1021 vdkvelseds pnseqdlekl ggkspppppp pprrsylpgs gltttrsgdv vytgrkenit
     1081 akassedagp spqtratkyp aeepasawtp spppvttsss kdeeeeeeeg dkimaelqnl
     1141 effhedvrks dveyengpqm efqkvttgav rpsdppkwer gmensisdas rtseykteii
     1201 mkensisnms llrdsrnysq etvpkasfgf sgispledei nkgskisglq ysipdtenqt
     1261 lnygktkeme kqntdkchvs shtrltessv hdfktedqev ittdfgqvvl rpkearhanv
     1321 npnedgesss sspteenaat dniafmitet tvqvlssgev hdivsqkged iqtvnidark
     1381 emtprqegtd nedpvvcldk kpviiifdep mdirsaykrl stifeecdee lermmmeeki
     1441 eeeeeeengd svvqnnntsq mshkkvapgn lrtgqqvetk sqphslatet rnpggqemnr
     1501 telnkfshvd spnseckged atddqfespk kkfkfkfpkk qlaaltqair tgtktgkktl
     1561 qvvvyeeeee dgtlkqhkea krfeiarsqp edtpentvrr qeqpsiests pisrtdeirk
     1621 ntyrtldsle qtikqlenti semspkalvd tscssnrdsv assshiaqea sprpllvpde
     1681 gptaleppts ipsasrkgss gapqtsrmpv pmsaknrpgt ldkpgkqskl qdprqyrqan
     1741 gsakksggdf kptspslpas kipalspssg kssslpsssg dssnlpnppa tkpsiasnpl
     1801 spqtgppahs aslipsvsng slkfqsltht gkghhlsfsp qsqngrappp lsfsssppsp
     1861 assvslnqga kgtrtihtps ltsykaqngs sskatpstak ets
//
LOCUS       XP_054222487             383 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 1 isoform X5
            [Homo sapiens].
ACCESSION   XP_054222487
VERSION     XP_054222487.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366512.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..383
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..383
                     /product="pleckstrin homology domain-containing family A
                     member 1 isoform X5"
                     /calculated_mol_wt=43541
     CDS             1..383
                     /gene="PLEKHA1"
                     /gene_synonym="TAPP1"
                     /coded_by="XM_054366512.1:240..1391"
                     /db_xref="GeneID:59338"
                     /db_xref="HGNC:HGNC:14335"
                     /db_xref="MIM:607772"
ORIGIN      
        1 mpyvdrqnri cgfldieene nsgkflrryf ildtredsfv wymdnpqnlp sgssrvgaik
       61 ltyiskvsda tklrpkaefc fvmnagmrky flqandqqdl vewvnvlnka ikitvpkqsd
      121 sqpnsdnlsr hgecgkkqvs yrtdivggvp iitptqkeev necgesidrn nlkrsqshlp
      181 yftpkppqds avikagycvk qgavmknwkr ryfqldenti gyfkseleke plrviplkev
      241 hkvqeckqsd immrdnlfei vttsrtfyvq adspeemhsw ikavsgaiva qrgpgrsass
      301 mrqarrlsnp ciqrsippvl qnpntlsvlp tqpppphipq plaatlwsqp lpwrsedfts
      361 llprssqgts rsrlslqenq lpk
//
LOCUS       XP_054224903            2133 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear mitotic apparatus protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054224903
VERSION     XP_054224903.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368928.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2133
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2133
                     /product="nuclear mitotic apparatus protein 1 isoform X1"
                     /calculated_mol_wt=240142
     CDS             1..2133
                     /gene="NUMA1"
                     /gene_synonym="NMP-22; NUMA"
                     /coded_by="XM_054368928.1:315..6716"
                     /db_xref="GeneID:4926"
                     /db_xref="HGNC:HGNC:8059"
                     /db_xref="MIM:164009"
ORIGIN      
        1 mtlhatrgaa llswvnslhv adpveavlql qdcsifikii drihgteegq qilkqpvser
       61 ldfvcsflqk nrkhpsspec lvsaqkvleg selelakmtm lllyhstmss ksprdweqfe
      121 ykiqaelavi lkfvldhedg lnlnedlenf lqkapvpstc sstfpeelsp pshqakreir
      181 flelqkvass ssgnnflsgs paspmgdilq tpqfqmrrlk kqladersnr delelelaen
      241 rklltekdaq iammqqridr lallnekqaa splepkelee lrdknesltm rlhetlkqcq
      301 dlkteksqmd rkinqlseen gdlsfklref ashlqqlqda lnelteehsk atqewlekqa
      361 qlekelsaal qdkkcleekn eilqgklsql eehlsqlqdn ppqekgevlg dvlqletlkq
      421 eaatlaannt qlqarvemle tergqqeakl laerghfeee kqqlsslitd lqssisnlsq
      481 akeeleqasq ahgarltaqv asltselttl natiqqqdqe laglkqqake kqaqlaqtlq
      541 qqeqasqglr hqveqlsssl kqkeqqlkev aekqeatrqd haqqlataae ereaslrerd
      601 aalkqleale kekaakleil qqqlqvanea rdsaqtsvtq aqrekaelsr kveelqacve
      661 tarqeqheaq aqvaelelql rseqqkatek ervaqekdql qeqlqalkes lkvtkgslee
      721 ekrraadale eqqrciselk aetrslveqh krerkeleee ragrkglear lqqlgeahqa
      781 etevlrrela eamaaqhtae seceqlvkev aawreryeds qqeeaqygam fqeqlmtlke
      841 ecekarqelq eakekvagie shselqisrq qnelaelhan laralqqvqe kevraqklad
      901 dlstlqekma atskevarle tlvrkageqq etasrelvke paragdrqpe wleeqqgrqf
      961 cstqaalqam ereaeqmgne lerlraalme sqgqqqeerg qqerevarlt qergraqadl
     1021 alekaarael emrlqnalne qrvefatlqe alahalteke gkdqelaklr gleaaqikel
     1081 eelrqtvkql keqlakkeke hasgsgaqse aagrteptgp klealraevs kleqqcqkqq
     1141 eqadslersl eaerasraer dsaletlqgq leekaqelgh sqsalasaqr elaafrtkvq
     1201 dhskaedewk aqvargrqea erknslissl eeevsilnrq vlekegeske lkrlvmaese
     1261 ksqkleerlr llqaetasns araaerssal reevqslree aekqrvasen lrqeltsqae
     1321 raeelgqelk awqekffqke qalstlqleh tstqalvsel lpakhlcqql qaeqaaaekr
     1381 hreeleqskq aagglraell raqrelgeli plrqkvaeqe rtaqqlraek asyaeqlsml
     1441 kkahgllaee nrglgeranl grqfleveld qarekyvqel aavradaetr laevqreaqs
     1501 tarelevmta kyegakvkvl eerqrfqeer qkltaqveql evfqreqtkq veelskklad
     1561 sdqaskvqqq klkavqaqgg esqqeaqrlq aqlnelqaql sqkeqaaehy klqmekakth
     1621 ydakkqqnqe lqeqlrsleq lqkenkelra eaerlghelq qaglktkeae qtcrhltaqv
     1681 rsleaqvaha dqqlrdlgkf qvatdalksr epqakpqldl sidsldlsce egtplsitrh
     1741 kalmtiipdl spnnplsklp rtqpdgtsvp gepaspisqr lppkvesles lyftpipars
     1801 qaplesslds lgdvfldsgr ktrsarrrtt qiinitmtkk ldveepdsan ssfystrsap
     1861 asqaslrats stqslarlgs pdygnsalls lpgyrpttrs sarrsqagvs sgappgrnsf
     1921 ymgtcqdepe qlddwnriae lqqrnrvcpp hlktcyples rpslslgtit deemktgdpq
     1981 etlrrasmqp iqiaegtgit trqqrkrvsl ephqgpgtpe skkatscfpr pmtprdrheg
     2041 rkqstteaqk kaapastkqa drrqsmafsi lntpkklgns llrrgaskka lskaspntrs
     2101 gtrrspriat ttasaataaa igatprakgk akh
//
LOCUS       XP_054225554             429 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine nucleotide exchange factor for Rab-3A isoform X4 [Homo
            sapiens].
ACCESSION   XP_054225554
VERSION     XP_054225554.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369579.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..429
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..429
                     /product="guanine nucleotide exchange factor for Rab-3A
                     isoform X4"
                     /calculated_mol_wt=47380
     CDS             1..429
                     /gene="RAB3IL1"
                     /gene_synonym="GRAB"
                     /coded_by="XM_054369579.1:93..1382"
                     /db_xref="GeneID:5866"
                     /db_xref="HGNC:HGNC:9780"
ORIGIN      
        1 mdsseehagc pargtcpvfl amsagtvrya psglcpvleg nlreepwgtd sppqpdqglp
       61 pplaavpvpw kstdpcqghr espgalvets ageeaqgqeg paaaqldvlr lrsssmeire
      121 kgseflkeel hraqkelklk deecerlskv reqleqelee ltaslfeeah kmvreanmkq
      181 aasekqlkea rgkidmlqae vtalktlvit stpaspnrel hpqllsptka gprkghsrhk
      241 stsstlcpav cpaaghtltp dregkevdti lfaefqawre sptldktcpf lervyredvg
      301 pcldftmqel svlvraaved ntltiepvas qtlptvkvae vdcsstntca lsgltrtcrh
      361 rirlgdsksh yyispssrar itavcnffty iryiqqglvr qdaepmfwei mrlrkemsla
      421 klgffpqea
//
LOCUS       XP_054226219             264 aa            linear   PRI 20-MAR-2023
DEFINITION  transforming growth factor beta regulator 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054226219
VERSION     XP_054226219.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370244.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..264
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..264
                     /product="transforming growth factor beta regulator 1
                     isoform X1"
                     /calculated_mol_wt=29129
     CDS             1..264
                     /gene="TBRG1"
                     /gene_synonym="NIAM; TB-5"
                     /coded_by="XM_054370244.1:221..1015"
                     /db_xref="GeneID:84897"
                     /db_xref="HGNC:HGNC:29551"
                     /db_xref="MIM:610614"
ORIGIN      
        1 mslldglass praplqsska rmkklpkksq nekyrlkylr lrkaakatvf iitdrpgfhd
       61 esaiypvgyc striyasmkc pdqkclytcq ikdggvqpqf eivpeddpqn aivsssadac
      121 haellrtist tmgklmpnll pagadffgfs hpaihnliqs cpgarkciny qwvkfdvckp
      181 gdgqlpeglp endaamsfea fqrqifdedq ndpllpgsld lpelqpaafv ssyqpmylth
      241 eplvdthlqh lkspsqgspi qssd
//
LOCUS       XP_054230373             217 aa            linear   PRI 20-MAR-2023
DEFINITION  palmitoyltransferase ZDHHC20 isoform X9 [Homo sapiens].
ACCESSION   XP_054230373
VERSION     XP_054230373.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374398.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..217
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..217
                     /product="palmitoyltransferase ZDHHC20 isoform X9"
                     /calculated_mol_wt=24570
     CDS             1..217
                     /gene="ZDHHC20"
                     /gene_synonym="4933421L13Rik; DHHC-20; DHHC20"
                     /coded_by="XM_054374398.1:67..720"
                     /db_xref="GeneID:253832"
                     /db_xref="HGNC:HGNC:20749"
                     /db_xref="MIM:617972"
ORIGIN      
        1 mairkqhlsv lstgfiklvf riilhknwfl niclylhklc rrkstescpk neltdtrakf
       61 hvlflffvsa mffisvlslf syhcwlvgkn rttiesfrap tfsygpdgng fslgcsknwr
      121 qvfgdekkyw llpifsslgd gcsfptrlvg mdpeqasvtn qneyarssgs nqpfpikpls
      181 esknrlldse sqwlengaee givksgtnnh vtvaien
//
LOCUS       XP_054230905            1377 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger MYM-type protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054230905
VERSION     XP_054230905.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374930.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1377
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1377
                     /product="zinc finger MYM-type protein 2 isoform X3"
                     /calculated_mol_wt=154781
     CDS             1..1377
                     /gene="ZMYM2"
                     /gene_synonym="FIM; MYM; NECRC; RAMP; SCLL; ZNF198"
                     /coded_by="XM_054374930.1:418..4551"
                     /db_xref="GeneID:7750"
                     /db_xref="HGNC:HGNC:12989"
                     /db_xref="MIM:602221"
ORIGIN      
        1 mdtssvggle ltdqtpvllg stamatsltn vgnsfsgpan plvsrsnkfq nssveddddv
       61 vfiepvqppp psvpvvadqr titftsskne elqgndskit psskelasqk gsvsetivid
      121 deedmetnqg qeknssnfie rrppetknrt ndvdfstssf srskvnagmg nsgittepds
      181 eiqianvttl etgvssvndg qlentdgrdm nlmithvtsl qntnlgdvsn glqssnfgvn
      241 iqtytpslts qtktgvgpfn pgrmnvagdv fqngesathh npdswisqsa sfprnqkqpg
      301 vdslspvasl pkqifqpsvq qqptkpvkvt canckkplqk gqtayqrkgs ahlfcsttcl
      361 ssfshkpapk klcvmckkdi ttmkgtivaq vdssesfqef cstsclslye dkqnptkgal
      421 nksrcticgk lteirhevsf knmthklcsd hcfnryrman glimncceqc geylpskgag
      481 nnvlvidgqq krfccqscvs eykqvgshps flkevrdhmq dsflmqpeky gklttctgcr
      541 tqcrffdmtq cigpngymep ycstacmnsh ktkyaksqsl giichfckrn slpqyqatmp
      601 dgklynfcns scvakfqals mqsspngqfv apsdiqlkcn ycknsfcskp eilewenkvh
      661 qfcsktcsdd ykklhcivty ceycqeektl hetvnfsgvk rpfcsegckl lykqdfarrl
      721 glrcvtcnyc sqlckkgatk eldgvvrdfc sedcckkfqd wyykaarcdc cksqgtlker
      781 vqwrgemkhf cdqhcllrfy cqqnepnmtt qkgpenlhyd qgcqtsrtkm tgsapppspt
      841 pnkemknkav lckpltmtka tyckphmqtk scqtddtwrt eyvpvpipvp vyipvpmhmy
      901 sqnipvpttv pvpvpvpvfl papldsseki paaieelksk vssdaldtel ltmtdmmsed
      961 egktettnin sviietdiig sdllknsdpe tqssmpdvpy epdldieidf praaeeldme
     1021 nefllppvfg eeyeeqprpr skkkgakrka vsgyqshdds sdnsecsfpf kytygvnawk
     1081 hwvktrqlde dllvldelks sksvklkedl lshttaelny glahfvneir rpngenyapd
     1141 siyylclgiq eylcgsnrkd nifidpgyqt feqelnkilr swqpsilpdg sifsrveedy
     1201 lwrikqlgsh spvallntlf yfntkyfglk tveqhlrlsf gtvfrhwkkn pltmenkacl
     1261 ryqvsslcgt dnedkittgk rkheddepvf eqientanps rcpvkmfecy lskspqnlnq
     1321 rmdvfylqpe cssstdspvw ytstsldrnt lenmlvrvll vkdiydkdny eldedtd
//
LOCUS       XP_054231773            1804 aa            linear   PRI 20-MAR-2023
DEFINITION  signal-induced proliferation-associated 1-like protein 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_054231773
VERSION     XP_054231773.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375798.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1804
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1804
                     /product="signal-induced proliferation-associated 1-like
                     protein 1 isoform X1"
                     /calculated_mol_wt=199898
     CDS             1..1804
                     /gene="SIPA1L1"
                     /gene_synonym="E6TP1; SPAR1"
                     /coded_by="XM_054375798.1:673..6087"
                     /db_xref="GeneID:26037"
                     /db_xref="HGNC:HGNC:20284"
                     /db_xref="MIM:617504"
ORIGIN      
        1 mtslkrsqte rplatdrasv vgtdgtpkvh tddfymrrfr sqngslgssv mapvgpprse
       61 gshhitstpg vpkmgvrari adwpprkeni kessrssqei etsscldsls sksspvsqgs
      121 svslnsndsa mlksiqntlk nktrpsenmd srflmpeayp ssprkalrri rqrsnsditi
      181 seldvdsfde cisptyktgp slhreygsts sidkqgtsge sffdllkgyk ddksdrgptp
      241 tklsdflitg ggkgsgfsld vidgpisqre nlrlfkerek plkrrskset gdssifrklr
      301 nakgeelgks sdlednrsed svrpwtcpkc fahydvqsil fdlneaimnr hnvikrrntt
      361 tgasaaavas lvsgplshsa sfsspmgste dlnskgslsm dqgddksnel vmscpyfrne
      421 iggegerkis lsksnsgsfs gcesasfest lsshctnagv avlevpkenl vlhldrvkry
      481 ivehvdlgay yyrkffyqke hwnyfgaden lgpvavsirr ekpdemkeng spynyriifr
      541 tselmtlrgs vledaipsta khstarglpl kevlehvvpe lnvqclrlaf ntpkvteqlm
      601 kldeqglnyq qkvgimycka gqsteeemyn nesagpafee flqllgervr lkgfekyraq
      661 ldtktdstgt hslyttykdy eimfhvstml pytpnnkqql lrkrhigndi vtivfqepga
      721 qpfspknirs hfqhvfvivr vhnpcsdsvc ysvavtrsrd vpsfgppipk gvtfpksnvf
      781 rdfllakvin aenaahksek framatrtrq eylkdlaekn vtntpidpsg kfpfislask
      841 kkekskpypg aelssmgaiv wavraedynk ameldcllgi snefivlieq etksvvfncs
      901 crdvigwtst dtslkifyer gecvsvgsfi nieeikeivk rlqfvskgce svemtlrrng
      961 lgqlgfhvny egivadvepy gyawqaglrq gsrlveickv avatlsheqm idllrtsvtv
     1021 kvviipphdd ctprrscset yrmpvmeykm negvsyefkf pfrnnnkwqr naskgphspq
     1081 vpsqvqspmt srlnagkgdg kmppperaan iprsissdgr plerrlspgs diyvtvssma
     1141 larsqcrnsp snlssssdtg svggtyrqks mpegfgvsrr spasidrqnt qsdiggsgks
     1201 tpswqrseds iadqmaysyr gpqdfnsfvl eqheyteptc hlpavskvlp afrespsgrl
     1261 mrqdpvvhls pnkqghsdsh ysshsssntl ssnassahsd ekwydgdrte selnsynylq
     1321 gtsadsgidt tsygpshgst aslgaatssp rsgpgkekva plwhsssevi smadrtlete
     1381 shgldrktes slsldihsks qagstpltre nstfsindaa shtstmssrh saspvvftsa
     1441 rsspkeelhp aapsqlapsf ssssssssgp rsfyprqgat skyligwkkp egtinsvgfm
     1501 dtrkrhqsdg neiahtrlra strdlraspk ptskstieed lkklidlesp tpesqksfkf
     1561 halsspqspf pstptsrral hrtlsdesiy nsqrehffts raslldqalp ndvlfsstyp
     1621 slpkslplrr psytlgmksl hgefsasdss ltdiqetrrq pmpdpglmpl pdtaadldws
     1681 nlvdaakaye vqrasffaas denhrplsaa snsdqledqa laqmkpysss kdssptlask
     1741 vdqlegmlkm lredlkkeke dkahlqaevq hlrednlrlq eesqnasdkl kkftewvfnt
     1801 idms
//
LOCUS       XP_054232314             482 aa            linear   PRI 20-MAR-2023
DEFINITION  G patch domain-containing protein 2-like isoform X3 [Homo sapiens].
ACCESSION   XP_054232314
VERSION     XP_054232314.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376339.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..482
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..482
                     /product="G patch domain-containing protein 2-like isoform
                     X3"
                     /calculated_mol_wt=54444
     CDS             1..482
                     /gene="GPATCH2L"
                     /gene_synonym="C14orf118"
                     /coded_by="XM_054376339.1:276..1724"
                     /db_xref="GeneID:55668"
                     /db_xref="HGNC:HGNC:20210"
ORIGIN      
        1 mfkfvlfclr cglmdelvhd lasaleqtse qnklgelwee malsprqqrr qlrkrrgrkr
       61 rsdfthlaeh tccyseases sldeatkdcr evapvtnfsd sddtmvakrh palnaivksk
      121 qhswhesdsf tenapcrplr rrrkvkrvts evaaslqqkl kvsdwsyerg crfksakkqr
      181 lsrwkentpw tssghglces aenrtflskt grkermecet deqkqgsden msecetssvc
      241 sssdtglftn degrqgddeq sdwfyegecv pgftvpnllp kwapdhcsev ermdsgldkf
      301 sdstfllpsr paqrgyhtrl nrlpgaaarc lrkgrrrlvg ketsintlgt erishiisdp
      361 rqkeknkala sdfphisaca hefnplsply sldvladash rrcspahcsa rqanvhwgpp
      421 csrdikrkrk pvataslssp sagmsdeerw vplcrcinth qgpapstksr ygihllsdss
      481 pv
//
LOCUS       XP_054232372             824 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase D1 isoform X2 [Homo sapiens].
ACCESSION   XP_054232372
VERSION     XP_054232372.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376397.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..824
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..824
                     /product="serine/threonine-protein kinase D1 isoform X2"
                     /calculated_mol_wt=92760
     CDS             1..824
                     /gene="PRKD1"
                     /gene_synonym="CHDED; PKC-MU; PKCM; PKD; PRKCM"
                     /coded_by="XM_054376397.1:8792..11266"
                     /db_xref="GeneID:5587"
                     /db_xref="HGNC:HGNC:9407"
                     /db_xref="MIM:605435"
ORIGIN      
        1 mydkillfrh dptsenilql vkaasdiqeg dlievvlsas atfedfqirp halfvhsyra
       61 pafcdhcgem lwglvrqglk cegcglnyhk rcafkipnnc sgvrrrrlsn vsltgvstir
      121 tssaelstsa pdepllspvs pgfeqkspse sfigrekrsn sqsyigrpih ldkilmskvk
      181 vphtfvihsy trptvcqyck kllkglfrqg lqckdcrfnc hkrcapkvpn nclgevting
      241 dllspgaesd vvmeegsddn dsernsglmd dmeeamvqda emamaecqnd sgemqdpdpd
      301 hedanrtisp stsnniplmr vvqsvkhtkr ksstvmkegw mvhytskdtl rkrhywrlds
      361 kcitlfqndt gsryykeipl seilslepvk tsalipngan phcfeittan vvyyvgenvv
      421 npsspspnns vltsgvgadv armweiaiqh almpvipkgs svgtgtnlhr disvsisvsn
      481 cqiqenvdis tvyqifpdev lgsgqfgivy ggkhrktgrd vaikiidklr fptkqesqlr
      541 nevailqnlh hpgvvnlecm fetpervfvv meklhgdmle milssekgrl pehitkflit
      601 qilvalrhlh fknivhcdlk penvllasad pfpqvklcdf gfariigeks frrsvvgtpa
      661 ylapevlrnk gynrsldmws vgviiyvsls gtfpfneded ihdqiqnaaf myppnpwkei
      721 sheaidlinn llqvkmrkry svdktlshpw lqdyqtwldl releckiger yithesddlr
      781 wekyageqgl qypthlinps ashsdtpete etemkalger vsil
//
LOCUS       XP_054233155            1916 aa            linear   PRI 20-MAR-2023
DEFINITION  C-myc promoter-binding protein isoform X1 [Homo sapiens].
ACCESSION   XP_054233155
VERSION     XP_054233155.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377180.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1916
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1916
                     /product="C-myc promoter-binding protein isoform X1"
                     /calculated_mol_wt=214707
     CDS             1..1916
                     /gene="DENND4A"
                     /gene_synonym="IRLB; MYCPBP"
                     /coded_by="XM_054377180.1:469..6219"
                     /db_xref="GeneID:10260"
                     /db_xref="HGNC:HGNC:24321"
                     /db_xref="MIM:600382"
ORIGIN      
        1 miedkgprva dyfvvagltd vskpleeeih fndachkvak pkepitdvsv iikslgeevp
       61 qdyicidvtp tglsadlnng slvgpqiylc yrrgrdkppl tdlgvlydwk erlkqgceii
      121 qstpygrpan isgstssqri yityrrasen mtqntlavtd iciiipskge spphtfckvd
      181 knlnnsmwgs avylcykksv aktntvsyka glicrypqed yesfslpesv plfclpmgat
      241 iecwpsnsky plpvfstfvl tgasaekvyg aaiqfyepys eenltekqrl llgltsadgk
      301 sdssktihtn kcicllshwp ffdafrkflt flyrysisgp hvlpiekhis hfmhkvpfps
      361 pqrprilvql sphdnlilsq pvssplplsg gkfstllqnl gpenavtllv favtehkili
      421 hslrpsvlts vtealvsmif pfhwpcpyvp lcplaladvl sapcpfivgi dsryfdlydp
      481 ppdvscvdvd tntisqigdk knvawkilpk kpcknlmntl nnlhqqlakl qqrprddglm
      541 dlaindydfn sgkrlhmidl eiqeaflffm asilkgyrsy lrpitqapse tatdaaslfa
      601 lqaflrsrdr shqkfynmmt ktqmfirfie ecsfvsdkda slaffddcvd kvdmdksgev
      661 rlieldesfk sehtvfvtpp eiphlpngee pplqysyngf pvlrnnlfer pegflqakkn
      721 klpskssspn splpmfrrtk qeiksahkia kryssipqmw srcllrhcyg lwficlpayv
      781 kvchskvral ktaydvlkkm qskkmdppde vcyrilmqlc gqydqpvlav rvlfemqkag
      841 idpnaitygy ynkavlestw psrsrsgyfl wtkvrnvvlg vtqfkralkk hahlsqttls
      901 adgsdldavs hgsmdsghgt htveqapfnt glikvyatdd rsstggqsdl gynslskdev
      961 rrgdtstedi qeekdkkgsd csslsesest kgsadclpkl syqnsssivr ltgtsnnsag
     1021 kisgesmest pelllissle dtnetrniqs rcfrkrhksd netnlqqqvv wgnrnrnlsg
     1081 gvlmgfmlnr inqeatpgdi veklgadaki lsnviskstr pntldigkpp lrskrdslek
     1141 essdddtpfd gsnyladkvd spvifdledl dsetdvskag cvatqnpkri qrmnssfsvk
     1201 pfektdvatg fdplsllvae teqqqkeeee ededdsksis tpsarrdlae eivmymnnms
     1261 spltsrtpsi dlqracddkl nkkspplvka crrsslppns pkpvrltksk sytkseekpr
     1321 drlwsspafs ptcpfreesq dtlthsspsf nldtllvpkl dvlrnsmfta gkgvaekask
     1381 wysrftmytt sskdqssdrt slssvgaqds estsltdedv chelegpiss qetsatsgtk
     1441 ridlsrisle ssaslegsls kfalpgksev tssfnasntn ifqnyamevl isscsrcrtc
     1501 dclvhdeeim agwtaddsnl nttcpfcgni flpflnieir dlrrpgryfl ksspstenmh
     1561 fpssissqtr qscistsasg ldtsalsvqg nfdlnskskl qenfctrsiq ipanrsktam
     1621 skcpifpmar sistsgpldk edtgrqklis tgslpatlqg atdslglewh lpspdpvtvp
     1681 ylsplvvwke lesllenegd haitvadfvd hhpivfwnlv wyfrrldlps nlpglilsse
     1741 hcnkyskipr hcmsedskyv liqmlwdnmk lhqdpgqply ilwnahsqsr tllfetqkyp
     1801 mvhllqksdn sfnqellksm vksikmndvy gpmsqiletl nkcphfkrqr slyreilfls
     1861 lvalgrenid idafdkeykm aydrltpsqv ksthncdrpp stgvmecrkt fgepyl
//
LOCUS       XP_054235476             734 aa            linear   PRI 20-MAR-2023
DEFINITION  adenylate cyclase type 7 isoform X5 [Homo sapiens].
ACCESSION   XP_054235476
VERSION     XP_054235476.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379501.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..734
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..734
                     /product="adenylate cyclase type 7 isoform X5"
                     /calculated_mol_wt=81348
     CDS             1..734
                     /gene="ADCY7"
                     /gene_synonym="AC7"
                     /coded_by="XM_054379501.1:399..2603"
                     /db_xref="GeneID:113"
                     /db_xref="HGNC:HGNC:238"
                     /db_xref="MIM:600385"
ORIGIN      
        1 mpakgryfln egeegpdqda lyekyqltsq hgpllltlll vaatacvali iiafsqgdps
       61 rhqailgmaf lvlavfaals vlmyvecllr rwlralallt waclvalgyv lvfdawtkaa
      121 caweqvpffl fivfvvytll pfsmrgavav gavstashll vlgslmggft tpsvrvglql
      181 lanaviflcg nltgafhkhq mqdasrdlft ytvkciqirr klriekrqqe nlllsvlpah
      241 ismgmklaii erlkehgdrr cmpdnnfhsl yvkrhqnvsi lyadivgftq lasdcspkel
      301 vvvlnelfgk fdqiakanec mrikilgdcy ycvsglpvsl ptharncvkm gldmcqaikq
      361 vreatgvdin mrvgihsgnv lcgviglrkw qydvwshdvs lanrmeaagv pgrvhiteat
      421 lkhldkayev edghgqqrdp ylkemnirty lvidprsqqp pppsqhlprp kgdaalkmra
      481 svrmtryles wgaarpfahl nhresvssge thvpngrrpk svpqrhrrtp drsmspkgrs
      541 eddsyddeml saieglsstr pccsksddfy tfgsiflekg fereyrlapi prarhdfaca
      601 slifvcillv hvllmprtaa lgvsfglvac vlglvlglcf atkfsrccpa rgtlctiser
      661 vetqpllrlt lavltigsll tvaiinlplm pfqvpelpvg netgllaass ktralceplp
      721 hlhtvfsrln elts
//
LOCUS       XP_054235713             773 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor E4F1 isoform X7 [Homo sapiens].
ACCESSION   XP_054235713
VERSION     XP_054235713.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379738.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..773
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..773
                     /product="transcription factor E4F1 isoform X7"
                     /calculated_mol_wt=82056
     CDS             1..773
                     /gene="E4F1"
                     /gene_synonym="E4F"
                     /coded_by="XM_054379738.1:24..2345"
                     /db_xref="GeneID:1877"
                     /db_xref="HGNC:HGNC:3121"
                     /db_xref="MIM:603022"
ORIGIN      
        1 megamavrvt aahtaeaqae agreagegav aavaaalaps gflglpapfs eededdvhrc
       61 grcqaeftal edfvqhkiqk acqrappeal patpattall gqevvpaapg peepitvahi
      121 vveaaslaad ishasdlvgg ghikevivaa eaelgdgema eapgsphqqg lglagegeqa
      181 qvkllvnkdg ryvcalchkt fktgsilkah mvthssrkdh ecklcgasfr tkgslirhhr
      241 rhtderpykc skcgksfres galtrhlksl tpctekirfs vskdvvvske daragsgaga
      301 aglgtatssv tgepietspv ihlvtdakgt vihevhvqmq elslgmkala peppvsqelp
      361 cssegsrenl lhqamqnsgi vleraageeg alepapaags spqplavaap qlpvlevqpl
      421 etvaseasav prthpcpqcs etfptaatle ahkrghtgpr pfacaqcgka fpkayllkkh
      481 qevhvrerrf rcgdcgklyk tiahvrghrr vhsderpypc pkcgkryktk naqqvhfrth
      541 leekphvcqf csrgfrekgs lvrhvrhhtg ekpfkcykcg rgfaehgtln rhlrtkggcl
      601 leveellvse dspaaattvl tedphtvlve fssvatadda etseateiie gtqtevdshi
      661 mkvvqqivhq asaghqiivq nvtmdeetal gpeaaaadti tiatpeslte qvamtlasai
      721 segtvlaara gtsgteqatv tmvssediei lehagelvia spegqlevqt viv
//
LOCUS       XP_054235885            1552 aa            linear   PRI 20-MAR-2023
DEFINITION  katanin-interacting protein isoform X12 [Homo sapiens].
ACCESSION   XP_054235885
VERSION     XP_054235885.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379910.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1552
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1552
                     /product="katanin-interacting protein isoform X12"
                     /calculated_mol_wt=173440
     CDS             1..1552
                     /gene="KATNIP"
                     /gene_synonym="JBTS26; KIAA0556"
                     /coded_by="XM_054379910.1:28..4686"
                     /db_xref="GeneID:23247"
                     /db_xref="HGNC:HGNC:29068"
                     /db_xref="MIM:616650"
ORIGIN      
        1 mdgqtlrkae rswscsrekk egyakdmvtd fdekhdeyli llqqrnrilk hlkskdpvql
       61 rlehleqgfs vyvngansel kssprkaihs dfsrsashte gthdygrrtl freaeealrr
      121 ssrtapskvq rrgwhqelrr slelsvnlqr kqkdcssdey dsieedilse pepedpalvg
      181 hprhdrppss gdwtqkdvhg eqetegrssp gpdtlvvlef npaskshkre rnlsakrkdn
      241 aevfvptkpe pnltpqapav fpdqermcsr pgsrrerpls atrktlceae ypeedasavl
      301 qaiqvenaal qrallsrkae qpasplqllp ittatttqep agaaggarai nqamdrigll
      361 gsrqqqkllk vlqavesdsa hlgrvvsptk eqvsdtedkq rmradeikda iyvtmeilsn
      421 wgnswwvglt eveffdlndt klyvsphdvd irntatpgel grlvnrnlag kkdsspwtcp
      481 fhpplqlffv irntrqlgdf hlakikvrny wtadgdldig aknvklyvnr nlifngkldk
      541 gdreapadhs ilvdqkneks eqleeamnah seeskgthem agasgdkelg lgcsppaetl
      601 adaklssqgn vsgkrknstn crkdslsqle eylrlsavpt smgdmpsapa tsppvkcppv
      661 heepsliqql enlmgrkice ppgktpswlq psptgkdrkq ggrkpkplwl spekplawkg
      721 rlpsddvige gpgeteardk glrhepgwgt srsvntkerp qrattkvhsd dsdifnqppn
      781 rerpasgrrg srkdagsssh gddqpasred twssrtpsrs rwrseqehtl heswsslsaf
      841 drshrgrisn telpgdilde llqqkssrhs dlppskkgeq pglsrgqdgy sgetdaggdf
      901 kipvlpygqr lvidikstwg drhyvglngi eifsskgepv qisnikadpp dinilpaygk
      961 dprvvtnlid gvnrtqddmh vwlapftrgr shsitidfth pchvaliriw nynksrihsf
     1021 rgvkditmll dtqcifegei akasgtlaga pehfgdtilf ttdddileai fysdemfdld
     1081 vgsldslqde eamrrpstad gegderpftq aglgaderip elelpssspv pqvttpepgi
     1141 yhgiclqlnf taswgdlhyl gltglevvgk egqalpihlh qisasprdln elpeysddsr
     1201 tldklidgtn itmedehmwl ipfspgldhv vtirldraes iaglrfwnyn kspedtyrga
     1261 kivhvsldgl cvsppegfli rkgpgnchfd faqeilfvdy lraqllpqpa rrldmrslec
     1321 asmdyeaplm pcgfifqfql ltswgdpyyi gltglelydk rgekiplsen niaafpdsvn
     1381 slegvggdvr tpdklidqvn dtsdgrhmwl apilpglvnr vyvifdlptt vsmiklwnya
     1441 ktphrgvkef gllvddllvy ngilamvshl vggilptcep tvpyhtilft edrdirhqek
     1501 httisnqaed qdvqmmnenq iitnakrkqs vvdpalrpkt ciseketrrr rc
//
LOCUS       XP_054172295            1306 aa            linear   PRI 20-MAR-2023
DEFINITION  misshapen-like kinase 1 isoform X16 [Homo sapiens].
ACCESSION   XP_054172295
VERSION     XP_054172295.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316320.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1306
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1306
                     /product="misshapen-like kinase 1 isoform X16"
                     /calculated_mol_wt=147530
     CDS             1..1306
                     /gene="MINK1"
                     /gene_synonym="B55; MAP4K6; MEKKK 6; MINK; YSK2; ZC3"
                     /coded_by="XM_054316320.1:206..4126"
                     /db_xref="GeneID:50488"
                     /db_xref="HGNC:HGNC:17565"
                     /db_xref="MIM:609426"
ORIGIN      
        1 mdvtedeeee ikqeinmlkk yshhrniaty ygafikkspp gnddqlwlvm efcgagsvtd
       61 lvkntkgnal kedciayicr eilrglahlh ahkvihrdik gqnvlltena evklvdfgvs
      121 aqldrtvgrr ntfigtpywm apeviacden pdatydyrsd iwslgitaie maegapplcd
      181 mhpmralfli prnppprlks kkwskkfidf idtcliktyl srppteqllk fpfirdqpte
      241 rqvriqlkdh idrsrkkrge keeteyeysg seeeddshge egepssimnv pgestlrref
      301 lrlqqenksn sealkqqqql qqqqqrdpea hikhllhqrq rrieeqkeer rrveeqqrre
      361 reqrklqeke qqrrledmqa lrreeerrqa ereqeyirhr leeeqrqlei lqqqllqeqa
      421 llleykrkql eeqrqserlq rqlqqehayl kslqqqqqqq qlqkqqqqql lpgdrkplyh
      481 ygrgmnpadk pawareveer trmnkqqnsp lakskpgstg peppipqasp gppgplsqtp
      541 pmqrpvepqe gphkslvahr vplkpyaapv prsqslqdqp trnlaafpas hdpdpaipap
      601 tatpsargav irqnsdptse gpgpspnppa wvrpdneapp kvpqrtssia talntsgagg
      661 srpaqavrar prsnsawqiy lqrraergtp kppgppaqpp gppnassnpd lrrsdpgwer
      721 sdsvlpashg hlpqagsler nrvgasskld sspvlspgnk akpddhrsrp grpadfvllk
      781 ertldeaprp pkkamdysss seevessedd eeegeggpae gsrdtpggrs dgdtdsvstm
      841 vvhdveeitg tqppygggtm vvqrtpeeer nllhadsngy tnlpdvvqps hsptenskgq
      901 sppskdgsgd yqsrglvkap gkssftmfvd lgiyqpggsg dsipitalvg gegtrldqlq
      961 ydvrkgsvvn vnptntrahs etpeirkykk rfnseilcaa lwgvnllvgt englmlldrs
     1021 gqgkvyglig rrrfqqmdvl eglnllitis gkrnklrvyy lswlrnkilh ndpevekkqg
     1081 wttvgdmegc ghyrvvkyer ikflvialks svevyawapk pyhkfmafks fadlphrpll
     1141 vdltveegqr lkviygssag fhavdvdsgn sydiyipvhi qsqitphaii flpntdgmem
     1201 llcyedegvy vntygriikd vvlqwgempt svayicsnqi mgwgekaiei rsvetghldg
     1261 vfmhkraqrl kflcerndkv ffasvrsggs sqvyfmtlnr ncimnw
//
LOCUS       XP_054177783             635 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology-like domain family B member 3 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054177783
VERSION     XP_054177783.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321808.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..635
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..635
                     /product="pleckstrin homology-like domain family B member
                     3 isoform X1"
                     /calculated_mol_wt=71271
     CDS             1..635
                     /gene="PHLDB3"
                     /coded_by="XM_054321808.1:766..2673"
                     /db_xref="GeneID:653583"
                     /db_xref="HGNC:HGNC:30499"
ORIGIN      
        1 mgtrsspeeg tppplvpecd vevqpqghpe esreqeasev laepssrgga eqqaeeeevg
       61 egsstessrd apeatppiam aatppastss regvrgaarr lqgqqlealt rvalmeqrvk
      121 elqrqrkelr iemevevall rgelagerva arreeeqlre lleqqaaseq rgrqqreqeq
      181 rrlsqerdrl eglrqrlrka qgqldsqped qrerllqgvq emreqldvaq rayedlefqq
      241 leresrqeee drdspgpqvp dpkvqelqas maqhrhrirv leeqlkslge qmaaesrgls
      301 rkkeealqal sqersrllel nclqgtpggd fsepnpaltk llftqktdrq llvlqdavah
      361 saatptsscl fsvhsslqgs iglqrtgslp rkrgergsqr gsprplsfhc tesleasalp
      421 pavgdsgryp lyqllncgrg nscgaihpdi ahmerllqqa maererllka regtrrgteg
      481 ssgpavpait apptpphppg prildlrqhl egwghnlenc phvqvsgccc rgplvkmggr
      541 iktwrkrwfc fdrqarrlay yadkeetklk gviyfqaiee vyydhlrcaf kspnprltfc
      601 vktyerlfym vapspeamri wmdvivtaad enhap
//
LOCUS       XP_054197366             535 aa            linear   PRI 20-MAR-2023
DEFINITION  STE20/SPS1-related proline-alanine-rich protein kinase isoform X1
            [Homo sapiens].
ACCESSION   XP_054197366
VERSION     XP_054197366.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341391.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..535
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..535
                     /product="STE20/SPS1-related proline-alanine-rich protein
                     kinase isoform X1"
                     /calculated_mol_wt=58486
     CDS             1..535
                     /gene="STK39"
                     /gene_synonym="DCHT; PASK; SPAK"
                     /coded_by="XM_054341391.1:161..1768"
                     /db_xref="GeneID:27347"
                     /db_xref="HGNC:HGNC:17717"
                     /db_xref="MIM:607648"
ORIGIN      
        1 maepsgspvh vqlpqqaapv taaaaaapaa ataapapaap aapapapapa aqavgwpicr
       61 dayelqevig sgatavvqaa lckprqerva ikrinlekcq tsmdellkei qamsqcshpn
      121 vvtyytsfvv kdelwlvmkl lsggsmldii kyivnrgehk ngvleeaiia tilkevlegl
      181 dylhrngqih rdlkagnill gedgsvqiad fgvsaflatg gdvtrnkvrk tfvgtpcwma
      241 pevmeqvrgy dfkadmwsfg itaielatga apyhkyppmk vlmltlqndp ptletgvedk
      301 emmkkygksf rkllslclqk dpskrptaae llkckffqka knreyliekl ltrtpdiaqr
      361 akkvrrvpgs sghlhktedg dwewsddemd ekseegkaaf sqeksrrvke enpeiavsas
      421 tipeqiqsls vhdsqgppna nedyreassc avnlvlrlrn srkelndirf eftpgrdtad
      481 gvsqelfsag lvdghdvviv aanlqkivdd pkalktltfk lrnsnpgpfl lpkil
//
LOCUS       XP_054198777             574 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-coenzyme A oxidase-like protein isoform X3 [Homo sapiens].
ACCESSION   XP_054198777
VERSION     XP_054198777.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342802.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..574
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..574
                     /product="acyl-coenzyme A oxidase-like protein isoform X3"
                     /calculated_mol_wt=64591
     CDS             1..574
                     /gene="ACOXL"
                     /gene_synonym="ACOX4"
                     /coded_by="XM_054342802.1:225..1949"
                     /db_xref="GeneID:55289"
                     /db_xref="HGNC:HGNC:25621"
ORIGIN      
        1 mraltvqrvk famdlpllkr agqdlaektk nfvsrslvig evlsmadmat gvkcgiiywl
       61 fggairnlgs pehvtkwfqp lqeqkytgmf amterghgsn argiqteatf dlsaqefvid
      121 tpcenaekmy ignamygnya avfaqliidg rsqgphcfiv pvrdengsly pgvtaidmmy
      181 keglhgvdng ilifdkvrip renlldkfgs vapdgqyhsp irnksarfna mlaaltpsrl
      241 avafqamgam klglmiairy shsrrqfgpk tkeevkiieh qtqtlrlmph latalaltfv
      301 sryagallde dvfqgkelvn srslqalvag lkaystweni rclqdcrect ggmgymmenr
      361 isglkcdtdv fatfegddvv mlqvvgrell aqytkqyeek plfgllqnwa esvgdklrts
      421 flafnmdtvd dlafllkavk frervlqrgl variyykvkt kkedffhawn sclhhvasls
      481 lahthrvtle qfslavkscp dqedqtllmk fcllygtklv fqerawyleh kyltpmastr
      541 irnqwlpepr asaaflgigv nsrwifrsgq aeda
//
LOCUS       XP_054201668             509 aa            linear   PRI 20-MAR-2023
DEFINITION  neuroligin-1 isoform X7 [Homo sapiens].
ACCESSION   XP_054201668
VERSION     XP_054201668.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345693.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..509
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..509
                     /product="neuroligin-1 isoform X7"
                     /calculated_mol_wt=57696
     CDS             1..509
                     /gene="NLGN1"
                     /gene_synonym="NL1"
                     /coded_by="XM_054345693.1:12163..13692"
                     /db_xref="GeneID:22871"
                     /db_xref="HGNC:HGNC:14291"
                     /db_xref="MIM:600568"
ORIGIN      
        1 mlatkvgcnv sdtvelvecl qkkpykelvd qdiqparyhi afgpvidgdv ipddpqilme
       61 qgeflnydim lgvnqgeglk fvenivdsdd gisasdfdfa vsnfvdnlyg ypegkdvlre
      121 tikfmytdwa drhnpetrrk tllalftdhq wvapavatad lhsnfgspty fyafyhhcqt
      181 dqvpawadaa hgdevpyvlg ipmigptelf pcnfskndvm lsavvmtywt nfaktgdpnq
      241 pvpqdtkfih tkpnrfeeva wtrysqkdql ylhiglkprv kehyrankvn lwlelvphlh
      301 nlndisqyts tttkvpstdi tfrptrknsv pvtsafptak qddpkqqpsp fsvdqrdyst
      361 elsvtiavga sllflnilaf aalyykkdkr rhdvhrrcsp qrtttndlth aqeeeimslq
      421 mkhtdldhec esihphevvl rtacppdytl amrrspddvp lmtpntitmi pntipgiqpl
      481 htfntftggq nntlphphph phshsttrv
//
LOCUS       XP_054202867            2136 aa            linear   PRI 20-MAR-2023
DEFINITION  plexin-B1 isoform X1 [Homo sapiens].
ACCESSION   XP_054202867
VERSION     XP_054202867.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346892.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2136
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2136
                     /product="plexin-B1 isoform X1"
                     /calculated_mol_wt=232296
     CDS             1..2136
                     /gene="PLXNB1"
                     /gene_synonym="PLEXIN-B1; PLXN5; SEP"
                     /coded_by="XM_054346892.1:252..6662"
                     /db_xref="GeneID:5364"
                     /db_xref="HGNC:HGNC:9103"
                     /db_xref="MIM:601053"
ORIGIN      
        1 mpalgpallq alwagwvltl qplpptaftp ngtylqhlar dptsgtlylg atnflfqlsp
       61 glqleatvst gpvldsrdcl ppvmpdecpq aqptnnpnql llvspgalvv cgsvhqgvce
      121 qrrlgqleql llrperpgdt qyvaandpav stvglvaqgl agepllfvgr gytsrgvggg
      181 ippittralw ppdpqaafsy eetaklavgr lseyshhfvs afargasayf lflrrdlqaq
      241 srafrayvsr vclrdqhyys yvelplaceg grygliqaaa vatsrevahg evlfaafssa
      301 apptvgrpps aaagasgasa lcafpldevd rlanrtrdac ytregraedg tevayieydv
      361 nsdcaqlpvd tldaypcgsd htpspmasrv pleatpilew pgiqltavav tmedghtiaf
      421 lgdsqgqlhr vylgpgsdgh pystqsiqqg savsrdltfd gtfehlyvmt qstllkvpva
      481 scaqhldcas clahrdpycg wcvllgrcsr rsecsrgqgp eqwlwsfqpe lgclqvaams
      541 panisreetr evflsvpdlp plwpgesysc hfgehqspal ltgsgvmcps pdpseapvlp
      601 rgadyvsvsv elrfgavvia ktslsfydcv avtelrpsaq cqacvssrwg cnwcvwqhlc
      661 thkascdagp mvashqsplv spdpparggp spspptapka latpapdtlp vepgapstat
      721 asdispgasp sllspwgpwa gsgsisspgs tgsplheeps ppspqngpgt avpaptdfrp
      781 satpedllas plspsevaav ppadpgpeal hptvpldlpp atvpattfpg amgsvkpald
      841 wltreggelp eadewtggda pafststlls gdgdsaeleg ppaplilpss ldyqydtpgl
      901 weleeatlga sscpcvesvq gstlmpvhve reirllgrnl hlfqdgpgdn ecvmelegle
      961 vvvearvece pppdtqchvt cqqhqlsyea lqpelrvglf lrragrlrvd saeglhvvly
     1021 dcsvghgdcs rcqtampqyg cvwcegerpr cvtreacgea eavatqcpap lihsvepltg
     1081 pvdggtrvti rgsnlgqhvq dvlgmvtvag vpcavdaqey evssslvcit gasgeevaga
     1141 tavevpgrgr gvsehdfayq dpkvhsifpa rgpraggtrl tlngsklltg rledirvvvg
     1201 dqpchllpeq qseqlrcets prptpatlpv avwfgaterr lqrgqfkytl dpnitsagpt
     1261 ksflsggrei cvrgqnldvv qtprirvtvv srmlqpsqgl grrrrvvpet acslgpscss
     1321 qqfeepchvn ssqlitcrtp alpglpedpw vrvefildnl vfdfatlnpt pfsyeadptl
     1381 qplnpedptm pfrhkpgsvf svegenldla mskeevvami gdgpcvvktl trhhlycepp
     1441 veqplprhha lreapdslpe ftvqmgnlrf slghvqydge spgafpvaaq vglgvgtsll
     1501 algviiivlm yrrkskqalr dykkvqiqle nlessvrdrc kkeftdlmte mtdltsdllg
     1561 sgipfldykv yaeriffpgh resplhrdlg vpesrrptve qglgqlsnll nsklfltkfi
     1621 htlesqrtfs ardrayvasl ltvalhgkle yftdilrtll sdlvaqyvak npklmlrrte
     1681 tvveklltnw msiclytfvr dsvgeplyml frgikhqvdk gpvdsvtgka kytlndnrll
     1741 redveyrplt lnallavgpg ageaqgvpvk vldcdtisqa kekmldqlyk gvpltqrpdp
     1801 rtldvewrsg vaghlilsde dvtsevqglw rrlntlqhyk qvpdgatval vpcltkhvlr
     1861 enqdyvpger tpmledvdeg girpwhlvkp sdepepprpr rgslrggere rakaipeiyl
     1921 trllsmkgtl qkfvddlfqv ilstsrpvpl avkyffdlld eqaqqhgisd qdtihiwktn
     1981 slplrfwini iknpqfvfdv qtsdnmdavl lviaqtfmda ctladhklgr dspinkllya
     2041 rdiprykrmv eryyadirqt vpasdqemns vlaelswnys gdlgarvalh elykyinkyy
     2101 dqiitaleed gtaqkmqlgy rlqqiaaave nkvtdl
//
LOCUS       XP_054204148            1428 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium-dependent secretion activator 1 isoform X5 [Homo sapiens].
ACCESSION   XP_054204148
VERSION     XP_054204148.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348173.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1428
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1428
                     /product="calcium-dependent secretion activator 1 isoform
                     X5"
                     /calculated_mol_wt=161103
     CDS             1..1428
                     /gene="CADPS"
                     /gene_synonym="CADPS1; CAPS; CAPS1; UNC-31"
                     /coded_by="XM_054348173.1:388..4674"
                     /db_xref="GeneID:8618"
                     /db_xref="HGNC:HGNC:1426"
                     /db_xref="MIM:604667"
ORIGIN      
        1 mldpssseee sdeiveeesg kevlgsapsg arlspsrtse gsagsaglgg ggagagagvg
       61 agggggsgas sgggagglqp ssragggrps spspsvvsek ekeelerlqk eeeerkkrlq
      121 lyvfvmrcia ypfnakqptd marrqqkisk qqlqtvkdrf qaflngetqi madeafmnav
      181 qsyyevflks drvarmvqsg gcsandsrev fkkhiekrvr slpeidglsk etvlsswmak
      241 fdaiyrgeed prkqqarmta saaselilsk eqlyemfqni lgikkfehql lynacqldnp
      301 deqaaqirre ldgrlqmadq iarerkfpkf vskemenmyi eelkssvnll manlesmpvs
      361 kggefklqkl krshnasiid mgeesenqls ksdvvlsfsl evvimevqgl kslapnrivy
      421 ctmeveggek lqtdqaeask ptwgtqgdfs tthalpavkv klftestgvl aledkelgrv
      481 ilhptpnspk qsewhkmtvs kncpdqdlki klavrmdkpq nmkhsgylwa igknvwkrwk
      541 krffvlvqvs qytfamcsyr ekkaepqell qldgytvdyt dpqpgleggr affnavkegd
      601 tvifasddeq drilwvqamy ratgqshkpv pptqvqklna kggnvpqlda pisqfsglkd
      661 adraqkhgmd efissnpcnf dhaslfemvq rltldhrlnd sysclgwfsp gqvfvldeyc
      721 arngvrgchr hlcylrdlle raengamidp tllhysfafc ashvhgnsqq mhvylsglpp
      781 ntdpegsktp sppepeakkd tkkeskkrkd sktqanqelk rpdgigtvtv eekerfeeik
      841 erlrvllenq ithfrycfpf grpegalkat lsllervlmk divtpvpqee vktvirkcle
      901 qaalvnysrl seyakiegkk remyehpvfc lasqvmdlti qnvgrlitpa kkledtirla
      961 elvievlqqn eehhaegkea fawwsdlmve haetflslfa vdmdaalevq ppdtwdsfpl
     1021 fqllndflrt dynlcngkfh khlqdlfapl vvryvdlmes siaqsihrgf ereswepvks
     1081 ltsnlpnvnl pnvnlpkvpn lpvniplgip qmptfsapsw maaiydadng sgtsedlfwk
     1141 ldalqtfird lhwpeeefgk hleqrlklma sdmiescvkr triafevklq ktsrstdfrv
     1201 pqsictmfnv mvdakaqstk lcsmemgqef akmwhqyhsk idelieetvk emitllvakf
     1261 vtilegvlak lsrydegtlf ssflsftvka askyvdvpkp gmdvadayvt fvrhsqdvlr
     1321 dkvneemyie rlfdqwynss mnvictwltd rmdlqlhiyq lktlirmvkk tyrdfrlqgv
     1381 ldstlnskty etirnrltve eatasvsegg glqgismkds deedeedd
//
LOCUS       XP_054207776             546 aa            linear   PRI 20-MAR-2023
DEFINITION  MARVEL domain-containing protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054207776
VERSION     XP_054207776.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351801.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..546
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..546
                     /product="MARVEL domain-containing protein 2 isoform X2"
                     /calculated_mol_wt=62678
     CDS             1..546
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /coded_by="XM_054351801.1:559..2199"
                     /db_xref="GeneID:153562"
                     /db_xref="HGNC:HGNC:26401"
                     /db_xref="MIM:610572"
ORIGIN      
        1 msndgrsrnr drrydevpsd lpyqdttirt hpilhdsera vsadplpppp lplqppfgpd
       61 fyssdteepa iapdlkpvrr fvpdswknff rgkkkdpewd kpvsdiryis dgvecsppas
      121 parpnhrspl nsckdpyggs egtfssrkea davfprdpyg sldrhtqtvr tysekveeyn
      181 lrysymkswa gllrilgvve lllgagvfac vtayihkdse wynlfgysqp ygmggvgglg
      241 smyggyyytg pktpfvlvva glawittiii lvlgmsmyyr tilldsnwwp ltefginval
      301 filymaaaiv yvndtnrggl cyyplfntpv navfcrvegg qiaamiflfv tmivylisal
      361 vclklwrhea arrhreymeq qecematsgd rqrdsevnfk elrtakmkpe llsghippgh
      421 ipkpivmpdy vakypviqtd dererykavf qdqfseykel saevqavlrk fdeldavmsr
      481 lphhsesrqe herisrihee fkkkkndptf lekkercdyl knklshikqr iqeydkvmnw
      541 dvqgys
//
LOCUS       XP_054209552             788 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box only protein 38 isoform X7 [Homo sapiens].
ACCESSION   XP_054209552
VERSION     XP_054209552.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353577.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..788
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..788
                     /product="F-box only protein 38 isoform X7"
                     /calculated_mol_wt=88333
     CDS             1..788
                     /gene="FBXO38"
                     /gene_synonym="Fbx38; HMN2D; MOKA; SP329"
                     /coded_by="XM_054353577.1:79..2445"
                     /db_xref="GeneID:81545"
                     /db_xref="HGNC:HGNC:28844"
                     /db_xref="MIM:608533"
ORIGIN      
        1 mhlinfkqyr kvqnenspll kdhsrwtrlv dinlvrchal kldsfgqfie llpslefisl
       61 dqmfreppkg carvglsagt gigvssalvs nqnsnnddnn aqnnnanihd nnhhhpddsd
      121 eendfrqdlq pgeqqfaada lnemedivqe dgevvaesgn ntpahsqaii pvdvdeeqag
      181 psglqrvvkp tsitvhdses ddeedslelq evwipkngtr rysereektg esvqsrelsv
      241 sgkgktplrk rynshqmgqs kqfpleessc ekgcqvtseq ikadmkaard ipekkknkdv
      301 ypscssttas tvgnssshnt asqspdfvrt vnsggsseps ptevdvsrqc acspggseds
      361 eameegdaes svcprccchr pqesqrrtsr csdeerpsts racvvngpdg trsafsfrtl
      421 pqggssgpah dertngsgsg atgedrrgss qpescdvqsn edyprrpltr arsrlshvll
      481 vsesevaktk prhamkrkrt adkststsdp vieddhvqvl vlksknlvgv tmtncgitdl
      541 vlkdcpkmmf ihatrcrvlk hlkvenapiv nrfdyaqckk lnmdqvldqi lrmppernri
      601 iylrpmqqvd tltleqklfs gpypyhicii hefsnppnvr nkvrirswmd tianinqeli
      661 kyeffpeatr seedlkkypk ypwgreiytl egvvdgapys misdfpwlrs lraaepnsfa
      721 rydfeddees tiyaprrkgq lsadicmeti geeisemrqm kkgvfqrvva ifihycdvng
      781 epveddyi
//
LOCUS       XP_054214264            1206 aa            linear   PRI 20-MAR-2023
DEFINITION  neuronal cell adhesion molecule isoform X16 [Homo sapiens].
ACCESSION   XP_054214264
VERSION     XP_054214264.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358289.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1206
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1206
                     /product="neuronal cell adhesion molecule isoform X16"
                     /calculated_mol_wt=133383
     CDS             1..1206
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /coded_by="XM_054358289.1:526..4146"
                     /db_xref="GeneID:4897"
                     /db_xref="HGNC:HGNC:7994"
                     /db_xref="MIM:601581"
ORIGIN      
        1 mqlkimpkkk rlsagrvpli lflcqmisal evpldpklle dlvqpptitq qspkdyiidp
       61 reniviqcea kgkpppsfsw trngthfdid kdplvtmkpg tgtliinims egkaetyegv
      121 yqctarnerg aavsnnivvr psrsplwtke klepitlqsg qslvlpcrpp iglpppiifw
      181 mdnsfqrlpq servsqglng dlyfsnvlpe dtredyicya rfnhtqtiqq kqpisvkvis
      241 vdelndtiaa nlsdtefyga kssrerpptf ltpegnasnk eelrgnvlsl eciaeglptp
      301 iiywakedgm lpknrtvykn fektlqiihv seadsgnyqc iaknalgaih htisvrvkaa
      361 pywitapqnl vlspgedgtl icrangnpkp riswltngvp ieiapddpsr kidgdtiifs
      421 nvqerssavy qcnasneygy llanafvnvl aeppriltpa ntlyqvianr palldcaffg
      481 splptiewfk gakgsalhed iyvlhengtl eipvaqkdst gtytcvarnk lgmaknevhl
      541 eikdatwivk qpeyavvqrg smvsfeckvk hdhtlsltvl wlkdnrelps derftvdkdh
      601 lvvadvsddd sgtytcvant tldsvsasav lsvvaptptp apvydvpnpp fdleltdqld
      661 ksvqlswtpg ddnnspitkf iieyedamhk pglwhhqtev sgtqttaqlk lspyvnysfr
      721 vmavnsigks lpseaseqyl tkasepdknp taveglgsep dnlvitwkpl ngfesngpgl
      781 qykvswrqkd gddewtsvvv anvskyivsg tptfvpylik vqalndmgfa pepavvmghs
      841 gedlpmvapg nvrvnvvnst laevhwdpvp lksirghlqg yriyywktqs sskrnrrhie
      901 kkiltfqgsk thgmlpglep fshytlnvrv vngkgegpas pdrvfntpeg vpsapsslki
      961 vnptldsltl ewdppshpng ilteytlkyq pinsthelgp lvdlkipank trwtlknlnf
     1021 strykfyfya qtsagsgsqi teeavttvde gkmamasrqv diatqgwfig lmcavallil
     1081 illivcfirr nkggkypvke kedahadpei qpmkeddgtf geyrslesda edhkplkkgs
     1141 rtpsdrtvkk edsddslvdy gegvngqfne dgsfigqysg kkekepaegn esseapspvn
     1201 amnsfv
//
LOCUS       XP_054214779             697 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 168 isoform X1 [Homo sapiens].
ACCESSION   XP_054214779
VERSION     XP_054214779.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358804.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..697
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..697
                     /product="transmembrane protein 168 isoform X1"
                     /calculated_mol_wt=79624
     CDS             1..697
                     /gene="TMEM168"
                     /coded_by="XM_054358804.1:1258..3351"
                     /db_xref="GeneID:64418"
                     /db_xref="HGNC:HGNC:25826"
ORIGIN      
        1 mckslrycfs hclylamtrl eevnrevnmh ssvrylgyla rinllvaicl glyvrwekta
       61 nslilvifil glfvlgiasi lyyyfsmeaa slslsnlwfg fllgllcfld nssfkndvke
      121 estkylllts ivlrilcslv erisgyvrhr ptllttvefl elvgfaiast tmlvekslsv
      181 illvvalaml iidlrmksfl aipnlvifav llffssletp knpiafacff iclitdpfld
      241 iyfsglsvte rwkpflyrgr icrrlsvvfa gmieltffil safklrdthl wyfvipgfsi
      301 fgifwmichi iflltlwgfh tklndchkvy fthrtdynsl drimaskgmr hfcliseqlv
      361 ffsllatail gavswqptng iflsmflivl plesmahglf helgnclggt svgyaivipt
      421 nfcspdgqpt llppehvqel nlrstgmlna iqrffayhmi etygcdysts glsfdtlhsk
      481 lkaflelrtv dgprhdtyil yysghthgtg ewalaggdtl rldtliewwr ekngsfcsrl
      541 iivldsenst pwvkevrkin dqyiavqgae liktvdieea dppqlgdftk dwveyncnss
      601 nnicwtekgr tvkavygvsk rwsdytlhlp tgsdvakhwm lhfpritypl vhlanwlcgl
      661 nlfwicktcf rclkrlkmsw flptvldtgq gfklvks
//
LOCUS       XP_054215478             124 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124901693 [Homo sapiens].
ACCESSION   XP_054215478
VERSION     XP_054215478.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359503.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..124
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..124
                     /product="uncharacterized protein LOC124901693"
                     /calculated_mol_wt=13844
     CDS             1..124
                     /gene="LOC124901693"
                     /coded_by="XM_054359503.1:869..1243"
                     /db_xref="GeneID:124901693"
ORIGIN      
        1 mnvqaqwera lgsvaisalc gragttvpkl afpqlkafqa maeflsdigk dlhnlgsrdr
       61 tmdndpaiti fcaqlislfp ygwshhflsd krrlhqfqas friliiltas lrmielpnsl
      121 klkf
//
LOCUS       XP_054216421             860 aa            linear   PRI 20-MAR-2023
DEFINITION  potassium voltage-gated channel subfamily KQT member 3 isoform X3
            [Homo sapiens].
ACCESSION   XP_054216421
VERSION     XP_054216421.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360446.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 22% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..860
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..860
                     /product="potassium voltage-gated channel subfamily KQT
                     member 3 isoform X3"
                     /calculated_mol_wt=95277
     CDS             1..860
                     /gene="KCNQ3"
                     /gene_synonym="BFNC2; EBN2; KV7.3"
                     /coded_by="XM_054360446.1:564..3146"
                     /db_xref="GeneID:3786"
                     /db_xref="HGNC:HGNC:6297"
                     /db_xref="MIM:602232"
ORIGIN      
        1 mglkarraag aaggggdggg ggggaanpag gdaaaagdee rkvglapgdv eqvtlalgag
       61 adkdgtllle gggrdegqrr tpqgigllak tplsrpvkrn nakyrriqtl iydalerprg
      121 wallyhalvf livlgclila vlttfkeyet vsgdwlllle tfaififgae falriwaagc
      181 ccrykgwrgr lkfarkplcm ldifvliasv pvvavgnqgn vlatslrslr flqilrmlrm
      241 drrggtwkll gsaicahske litawyigfl tlilssflvy lvekdvpevd aqgeemkeef
      301 etyadalwwg litlatigyg dktpktwegr liaatfslig vsffalpagi lgsglalkvq
      361 eqhrqkhfek rrkpaaeliq aawryyatnp nridlvatwr fyesvvsfpf frkeqleaas
      421 sqklglldrv rlsnprgsnt kgklftplnv daieespske pkpvglnnke rfrtafrmka
      481 yafwqsseda gtgdpmaedr gygndfpied miptlkaair avrilqfrly kkkfketlrp
      541 ydvkdvieqy saghldmlsr ikylqtridm iftpgppstp khkksqkgne pyvarpstse
      601 iedqsmmgkf vkverqvqdm gkkldflvdm hmqhmerlqv qvteyyptkg tsspaeaekk
      661 ednrysdlkt iicnysetgp peppysfhqv tidkvspygf fahdpvnlpr ggpssgkvqa
      721 tppssattyv erptvlpilt lldsrvschs qadlqgpysd risprqrrsi trdsdtplsl
      781 msvnheeler spsgfsisqd rddyvfgpng gsswmrekry laegetdtdt dpftpsgsmp
      841 lsstgdgisd svwtpsnkpi
//
LOCUS       XP_047303068             436 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-4(IV) chain-like [Homo sapiens].
ACCESSION   XP_047303068
VERSION     XP_047303068.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047447112.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..436
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..436
                     /product="collagen alpha-4(IV) chain-like"
                     /calculated_mol_wt=45985
     Region          <116..357
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..436
                     /gene="LOC124908534"
                     /coded_by="XM_047447112.1:1..1311"
                     /db_xref="GeneID:124908534"
ORIGIN      
        1 mapsaavpdr vlqrmhppsl lparpvgpap ilpegptgge argcclssgp fwrgagcpqa
       61 esdgsfllga pgfpdssrpg kapgplsrcp eslhfssfat eligrcasdr raracappkt
      121 sgvpgrppgr nehhgerpas kttsgtwtqq drvaslnkag arrlrvagpg ragpglalrp
      181 prqepsgygp rgmprgppss lgrkeerpga gqqrrapapm atelstgsrp sshrrravwp
      241 teppgprtql grhpgcshgk ghqancprpr aqapwrrppl vpprswpppg sravascpgt
      301 arrpgcpasp gaslwgfhrp tprrslllsd lqrprirpst cpspawsprt vpshsspgeh
      361 segcaglpsq fllmavllqk cppalpprpl pppfaeektp taprtwrisi saalgqpwpt
      421 cgtlsladgt rrdpsy
//
LOCUS       NP_057169                171 aa            linear   PRI 22-MAR-2023
DEFINITION  all-trans retinoic acid-induced differentiation factor isoform a
            [Homo sapiens].
ACCESSION   NP_057169
VERSION     NP_057169.2
DBSOURCE    REFSEQ: accession NM_016085.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 171)
  AUTHORS   Zhou W, van Rooij JGJ, Ebeling PR, Verkerk AJMH and Zillikens MC.
  TITLE     The Genetics of Atypical Femur Fractures-a Systematic Review
  JOURNAL   Curr Osteoporos Rep 19 (2), 123-130 (2021)
   PUBMED   33587247
  REMARK    GeneRIF: The Genetics of Atypical Femur Fractures-a Systematic
            Review.
REFERENCE   2  (residues 1 to 171)
  AUTHORS   Surface LE, Burrow DT, Li J, Park J, Kumar S, Lyu C, Song N, Yu Z,
            Rajagopal A, Bae Y, Lee BH, Mumm S, Gu CC, Baker JC, Mohseni M, Sum
            M, Huskey M, Duan S, Bijanki VN, Civitelli R, Gardner MJ, McAndrew
            CM, Ricci WM, Gurnett CA, Diemer K, Wan F, Costantino CL, Shannon
            KM, Raje N, Dodson TB, Haber DA, Carette JE, Varadarajan M,
            Brummelkamp TR, Birsoy K, Sabatini DM, Haller G and Peterson TR.
  TITLE     ATRAID regulates the action of nitrogen-containing bisphosphonates
            on bone
  JOURNAL   Sci Transl Med 12 (544) (2020)
   PUBMED   32434850
REFERENCE   3  (residues 1 to 171)
  AUTHORS   Tian X, Wang Q, Wu J, Han Q, Shen L, Wei C, Song H, Li M, Fang Y,
            Wang X and Sun Q.
  TITLE     Interaction of Nel-like molecule 1 with apoptosis related protein 3
            with its influence on human dental pulp cells proliferation and
            differentiation into odontoblasts
  JOURNAL   Biochem Biophys Res Commun 518 (2), 246-252 (2019)
   PUBMED   31416616
  REMARK    GeneRIF: Nell-1 could reciprocally interact with APR3 and stimulate
            the differentiation and mineralization of human dental pulp cells.
REFERENCE   4  (residues 1 to 171)
  AUTHORS   Yu Z, Surface LE, Park CY, Horlbeck MA, Wyant GA, Abu-Remaileh M,
            Peterson TR, Sabatini DM, Weissman JS and O'Shea EK.
  TITLE     Identification of a transporter complex responsible for the
            cytosolic entry of nitrogen-containing bisphosphonates
  JOURNAL   Elife 7, e36620 (2018)
   PUBMED   29745899
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 171)
  AUTHORS   Zhang Y, Li Q, Huang W, Zhang J, Han Z, Wei H, Cui J, Wang Y and
            Yan W.
  TITLE     Increased expression of apoptosis-related protein 3 is highly
            associated with tumorigenesis and progression of cervical squamous
            cell carcinoma
  JOURNAL   Hum Pathol 44 (3), 388-393 (2013)
   PUBMED   23036366
  REMARK    GeneRIF: APR3 expression is increased significantly with malignant
            progression of human cervical cervical squamous cell carcinoma
            (SCC), and thus, it may serve as a potential biomarker to predict
            prognosis of cervical SCC.
REFERENCE   6  (residues 1 to 171)
  AUTHORS   Shin N, Ahn N, Chang-Ileto B, Park J, Takei K, Ahn SG, Kim SA, Di
            Paolo G and Chang S.
  TITLE     SNX9 regulates tubular invagination of the plasma membrane through
            interaction with actin cytoskeleton and dynamin 2
  JOURNAL   J Cell Sci 121 (Pt 8), 1252-1263 (2008)
   PUBMED   18388313
REFERENCE   7  (residues 1 to 171)
  AUTHORS   Yang G, Yu F, Fu H, Lu F, Huang B, Bai L, Zhao Z, Yao L and Lu Z.
  TITLE     Identification of the distinct promoters for the two transcripts of
            apoptosis related protein 3 and their transcriptional regulation by
            NFAT and NFkappaB
  JOURNAL   Mol Cell Biochem 302 (1-2), 187-194 (2007)
   PUBMED   17387583
  REMARK    GeneRIF: These data suggested that APR3 might be functionally
            important in certain processes under which NFAT and/or NFkappaB
            are/is activated.
REFERENCE   8  (residues 1 to 171)
  AUTHORS   Yu F, Yang G, Zhao Z, Ji L, Cao Y, Bai L, Lu F, Fu H, Huang B, Li
            H, Zhang J, Yao L and Lu Z.
  TITLE     Apoptosis related protein 3, an ATRA-upregulated membrane protein
            arrests the cell cycle at G1/S phase by decreasing the expression
            of cyclin D1
  JOURNAL   Biochem Biophys Res Commun 358 (4), 1041-1046 (2007)
   PUBMED   17524364
REFERENCE   9  (residues 1 to 171)
  AUTHORS   Zhang Z and Henzel WJ.
  TITLE     Signal peptide prediction based on analysis of experimentally
            verified cleavage sites
  JOURNAL   Protein Sci 13 (10), 2819-2824 (2004)
   PUBMED   15340161
REFERENCE   10 (residues 1 to 171)
  AUTHORS   Zhu F, Yan W, Zhao ZL, Chai YB, Lu F, Wang Q, Peng WD, Yang AG and
            Wang CJ.
  TITLE     Improved PCR-based subtractive hybridization strategy for cloning
            differentially expressed genes
  JOURNAL   Biotechniques 29 (2), 310-313 (2000)
   PUBMED   10948432
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013403.9.
            On Jan 10, 2002 this sequence version replaced NP_057169.1.
            
            Summary: This gene is thought to be involved in apoptosis, and may
            also be involved in hematopoietic development and differentiation.
            The use of alternative splice sites and promotors result in
            multiple transcript variants encoding different isoforms.[provided
            by RefSeq, Dec 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF144055.2, BG572979.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..171
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     Protein         1..171
                     /product="all-trans retinoic acid-induced differentiation
                     factor isoform a"
                     /note="apoptosis related protein APR-3; apoptosis-related
                     protein 3"
                     /calculated_mol_wt=18466
     CDS             1..171
                     /gene="ATRAID"
                     /gene_synonym="APR--3; APR-3; APR3; C2orf28; HSPC013; p18;
                     PRO240"
                     /coded_by="NM_016085.5:324..839"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS46243.1"
                     /db_xref="GeneID:51374"
                     /db_xref="HGNC:HGNC:24090"
                     /db_xref="MIM:619682"
ORIGIN      
        1 mlharcclnq kgtilgldlq ncsledpgpn fhqahttvii dlqanplkgd lantfrgftq
       61 lqtlilpqhv ncpgginawn titsyidnqi cqgqknlcnn tgdpemcpen gscvpdgpgl
      121 lqcvcadgfh gykcmrqgsf sllmffgilg attlsvsill watqrrkakt s
//
LOCUS       NP_001394362             434 aa            linear   PRI 24-MAR-2023
DEFINITION  TGF-beta receptor type-1 isoform 7 [Homo sapiens].
ACCESSION   NP_001394362
VERSION     NP_001394362.1
DBSOURCE    REFSEQ: accession NM_001407433.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 434)
  AUTHORS   Starr LJ, Lindsay ME, Lino Cardenas CL and Yetman AT.
  TITLE     Siblings with profound connective tissue disease: First report of
            biallelic TGFBR1-related Loeys-Dietz syndrome
  JOURNAL   Am J Med Genet A 191 (3), 786-793 (2023)
   PUBMED   36584339
  REMARK    GeneRIF: Siblings with profound connective tissue disease: First
            report of biallelic TGFBR1-related Loeys-Dietz syndrome.
REFERENCE   2  (residues 1 to 434)
  AUTHORS   Pang KT, Ghim M, Sarathchandra P, Warboys CM, Yacoub MH, Chester AH
            and Weinberg PD.
  TITLE     Shear-mediated ALK5 expression regulates endothelial activation
  JOURNAL   Biochem Biophys Res Commun 642, 90-96 (2023)
   PUBMED   36566567
  REMARK    GeneRIF: Shear-mediated ALK5 expression regulates endothelial
            activation.
REFERENCE   3  (residues 1 to 434)
  AUTHORS   Frohlich J, Kovacovicova K, Raffaele M, Virglova T, Cizkova E,
            Kucera J, Bienertova-Vasku J, Wabitsch M, Peyrou M, Bonomini F,
            Rezzani R, Chaldakov GN, Tonchev AB, Di Rosa M, Blavet N, Hejret V
            and Vinciguerra M.
  TITLE     GDF11 inhibits adipogenesis and improves mature adipocytes
            metabolic function via WNT/beta-catenin and ALK5/SMAD2/3 pathways
  JOURNAL   Cell Prolif 55 (10), e13310 (2022)
   PUBMED   35920128
  REMARK    GeneRIF: GDF11 inhibits adipogenesis and improves mature adipocytes
            metabolic function via WNT/beta-catenin and ALK5/SMAD2/3 pathways.
REFERENCE   4  (residues 1 to 434)
  AUTHORS   Du Q, Zhang D, Zhuang Y, Xia Q, Wen T and Jia H.
  TITLE     The Molecular Genetics of Marfan Syndrome
  JOURNAL   Int J Med Sci 18 (13), 2752-2766 (2021)
   PUBMED   34220303
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 434)
  AUTHORS   Tzavlaki K and Moustakas A.
  TITLE     TGF-beta Signaling
  JOURNAL   Biomolecules 10 (3), 487 (2020)
   PUBMED   32210029
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 434)
  AUTHORS   Vander Ark A, Cao J and Li X.
  TITLE     TGF-beta receptors: In and beyond TGF-beta signaling
  JOURNAL   Cell Signal 52, 112-120 (2018)
   PUBMED   30184463
  REMARK    Review article
REFERENCE   7  (residues 1 to 434)
  AUTHORS   Loeys,B.L. and Dietz,H.C.
  TITLE     Loeys-Dietz Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301312
REFERENCE   8  (residues 1 to 434)
  AUTHORS   Milewicz,D.M. and Regalado,E.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
REFERENCE   9  (residues 1 to 434)
  AUTHORS   Cheifetz S, Bellon T, Cales C, Vera S, Bernabeu C, Massague J and
            Letarte M.
  TITLE     Endoglin is a component of the transforming growth factor-beta
            receptor system in human endothelial cells
  JOURNAL   J Biol Chem 267 (27), 19027-19030 (1992)
   PUBMED   1326540
REFERENCE   10 (residues 1 to 434)
  AUTHORS   Massague J.
  TITLE     Receptors for the TGF-beta family
  JOURNAL   Cell 69 (7), 1067-1070 (1992)
   PUBMED   1319842
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162427.24.
            
            Summary: The protein encoded by this gene forms a heteromeric
            complex with type II TGF-beta receptors when bound to TGF-beta,
            transducing the TGF-beta signal from the cell surface to the
            cytoplasm. The encoded protein is a serine/threonine protein
            kinase. Mutations in this gene have been associated with
            Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Aug 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.306194.1,
                                           SRR14038193.2441506.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.33"
     Protein         1..434
                     /product="TGF-beta receptor type-1 isoform 7"
                     /EC_number="2.7.11.30"
                     /note="activin A receptor type II-like kinase, 53kDa;
                     TGF-beta receptor type-1; activin receptor-like kinase 5;
                     serine/threonine-protein kinase receptor R4; transforming
                     growth factor beta receptor I; transforming growth
                     factor-beta receptor type I; activin A receptor type
                     II-like protein kinase of 53kD; mutant transforming growth
                     factor beta receptor I"
                     /calculated_mol_wt=48745
     Region          <1..41
                     /region_name="Activin_recp"
                     /note="Activin types I and II receptor domain; pfam01064"
                     /db_xref="CDD:426025"
     Region          107..134
                     /region_name="TGF_beta_GS"
                     /note="Transforming growth factor beta type I GS-motif;
                     pfam08515"
                     /db_xref="CDD:430045"
     Region          140..427
                     /region_name="STKc_TGFbR1_ACVR1b_ACVR1c"
                     /note="Catalytic domain of the Serine/Threonine Kinases,
                     Transforming Growth Factor beta Type I Receptor and
                     Activin Type IB/IC Receptors; cd14143"
                     /db_xref="CDD:271045"
     Site            order(142..146,150,161,163,191,211..214,218,220,264,266,
                     268..269,271,282,285,305..308)
                     /site_type="active"
                     /db_xref="CDD:271045"
     Site            order(142..148,150,161,163,211..212,214,218,268..269,271,
                     282)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271045"
     Site            order(146,218,220,264,266,268,285,305..308)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271045"
     Site            order(173..174,177..178,181..182,196,198)
                     /site_type="other"
                     /note="FKBP12 binding site [polypeptide binding]"
                     /db_xref="CDD:271045"
     Site            281..308
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271045"
     CDS             1..434
                     /gene="TGFBR1"
                     /gene_synonym="AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1;
                     LDS1A; LDS2A; MSSE; SKR4; tbetaR-I; TBR-i; TBRI; TGFR-1"
                     /coded_by="NM_001407433.1:154..1458"
                     /note="isoform 7 is encoded by transcript variant 19"
                     /db_xref="GeneID:7046"
                     /db_xref="HGNC:HGNC:11772"
                     /db_xref="MIM:190181"
ORIGIN      
        1 mciaeidlip rdrpfvcaps sktgsvttty ccnqdhcnki elpttvkssp glgpvelaav
       61 iagpvcfvci slmlmvyich nrtvihhrvp needpsldrp fisegttlkd liydmttsgs
      121 gsglpllvqr tiartivlqe sigkgrfgev wrgkwrgeev avkifssree rswfreaeiy
      181 qtvmlrheni lgfiaadnkd ngtwtqlwlv sdyhehgslf dylnrytvtv egmiklalst
      241 asglahlhme ivgtqgkpai ahrdlkskni lvkkngtcci adlglavrhd satdtidiap
      301 nhrvgtkrym apevlddsin mkhfesfkra diyamglvfw eiarrcsigg ihedyqlpyy
      361 dlvpsdpsve emrkvvceqk lrpnipnrwq scealrvmak imrecwyang aarltalrik
      421 ktlsqlsqqe gikm
//
LOCUS       NP_057302                870 aa            linear   PRI 24-MAR-2023
DEFINITION  DNA polymerase kappa isoform 1 [Homo sapiens].
ACCESSION   NP_057302
VERSION     NP_057302.1
DBSOURCE    REFSEQ: accession NM_016218.6
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 870)
  AUTHORS   Yudkina AV and Zharkov DO.
  TITLE     Miscoding and DNA Polymerase Stalling by Methoxyamine-Adducted
            Abasic Sites
  JOURNAL   Chem Res Toxicol 35 (2), 303-314 (2022)
   PUBMED   35089032
  REMARK    GeneRIF: Miscoding and DNA Polymerase Stalling by
            Methoxyamine-Adducted Abasic Sites.
REFERENCE   2  (residues 1 to 870)
  AUTHORS   Lancey C, Tehseen M, Bakshi S, Percival M, Takahashi M, Sobhy MA,
            Raducanu VS, Blair K, Muskett FW, Ragan TJ, Crehuet R, Hamdan SM
            and De Biasio A.
  TITLE     Cryo-EM structure of human Pol kappa bound to DNA and
            mono-ubiquitylated PCNA
  JOURNAL   Nat Commun 12 (1), 6095 (2021)
   PUBMED   34667155
  REMARK    GeneRIF: Cryo-EM structure of human Pol kappa bound to DNA and
            mono-ubiquitylated PCNA.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 870)
  AUTHORS   Ghodke PP and Guengerich FP.
  TITLE     DNA polymerases eta and kappa bypass N2-guanine-O6-alkylguanine DNA
            alkyltransferase cross-linked DNA-peptides
  JOURNAL   J Biol Chem 297 (4), 101124 (2021)
   PUBMED   34461101
  REMARK    GeneRIF: DNA polymerases eta and kappa bypass
            N(2)-guanine-O(6)-alkylguanine DNA alkyltransferase cross-linked
            DNA-peptides.
REFERENCE   4  (residues 1 to 870)
  AUTHORS   Powell BV, Bacurio JHT and Basu AK.
  TITLE     Translesion synthesis of 6-nitrochrysene-derived 2'-deoxyadenosine
            adduct in human cells
  JOURNAL   DNA Repair (Amst) 95, 102935 (2020)
   PUBMED   32721818
  REMARK    GeneRIF: Translesion synthesis of 6-nitrochrysene-derived
            2'-deoxyadenosine adduct in human cells.
REFERENCE   5  (residues 1 to 870)
  AUTHORS   Temprine K, Campbell NR, Huang R, Langdon EM, Simon-Vermot T, Mehta
            K, Clapp A, Chipman M and White RM.
  TITLE     Regulation of the error-prone DNA polymerase Polkappa by oncogenic
            signaling and its contribution to drug resistance
  JOURNAL   Sci Signal 13 (629) (2020)
   PUBMED   32345725
  REMARK    GeneRIF: Regulation of the error-prone DNA polymerase Polkappa by
            oncogenic signaling and its contribution to drug resistance.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 870)
  AUTHORS   Gerlach VL, Feaver WJ, Fischhaber PL and Friedberg EC.
  TITLE     Purification and characterization of pol kappa, a DNA polymerase
            encoded by the human DINB1 gene
  JOURNAL   J Biol Chem 276 (1), 92-98 (2001)
   PUBMED   11024016
REFERENCE   7  (residues 1 to 870)
  AUTHORS   Ohashi E, Ogi T, Kusumoto R, Iwai S, Masutani C, Hanaoka F and
            Ohmori H.
  TITLE     Error-prone bypass of certain DNA lesions by the human DNA
            polymerase kappa
  JOURNAL   Genes Dev 14 (13), 1589-1594 (2000)
   PUBMED   10887153
REFERENCE   8  (residues 1 to 870)
  AUTHORS   Johnson RE, Prakash S and Prakash L.
  TITLE     The human DINB1 gene encodes the DNA polymerase Poltheta
  JOURNAL   Proc Natl Acad Sci U S A 97 (8), 3838-3843 (2000)
   PUBMED   10760255
REFERENCE   9  (residues 1 to 870)
  AUTHORS   Ogi T, Kato T Jr, Kato T and Ohmori H.
  TITLE     Mutation enhancement by DINB1, a mammalian homologue of the
            Escherichia coli mutagenesis protein dinB
  JOURNAL   Genes Cells 4 (11), 607-618 (1999)
   PUBMED   10620008
REFERENCE   10 (residues 1 to 870)
  AUTHORS   Gerlach VL, Aravind L, Gotway G, Schultz RA, Koonin EV and
            Friedberg EC.
  TITLE     Human and mouse homologs of Escherichia coli DinB (DNA polymerase
            IV), members of the UmuC/DinB superfamily
  JOURNAL   Proc Natl Acad Sci U S A 96 (21), 11922-11927 (1999)
   PUBMED   10518552
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC116341.2, AC026424.5 and
            AC010245.4.
            
            Summary: This gene encodes a member of the DNA polymerase type-Y
            family of proteins. The encoded protein is a specialized DNA
            polymerase that catalyzes translesion DNA synthesis, which allows
            DNA replication in the presence of DNA lesions. Human cell lines
            lacking a functional copy of this gene exhibit impaired genome
            integrity and enhanced susceptibility to oxidative damage.
            Mutations in this gene that impair enzyme activity may be
            associated with prostate cancer in human patients. [provided by
            RefSeq, Sep 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF163570.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000241436.9/ ENSP00000241436.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..870
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.3"
     Protein         1..870
                     /product="DNA polymerase kappa isoform 1"
                     /EC_number="2.7.7.7"
                     /note="polymerase (DNA directed) kappa"
                     /calculated_mol_wt=98678
     Region          104..516
                     /region_name="PolY_Pol_IV_kappa"
                     /note="DNA Polymerase IV/Kappa; cd03586"
                     /db_xref="CDD:176459"
     Site            order(107..108,110..112,137..138,141,144,198,328)
                     /site_type="active"
                     /db_xref="CDD:176459"
     Site            order(132,153,196,198..199,321,355..361,390..391,414..421,
                     445,468..471,473,507..508,512,515)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:176459"
     Region          621..647
                     /region_name="ZnF_Rad18"
                     /note="Rad18-like CCHC zinc finger; smart00734"
                     /db_xref="CDD:128973"
     Region          776..802
                     /region_name="ZnF_Rad18"
                     /note="Rad18-like CCHC zinc finger; smart00734"
                     /db_xref="CDD:128973"
     Region          816..858
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBT6.1)"
     CDS             1..870
                     /gene="POLK"
                     /gene_synonym="DINB1; DINP; POLQ"
                     /coded_by="NM_016218.6:38..2650"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS4030.1"
                     /db_xref="GeneID:51426"
                     /db_xref="HGNC:HGNC:9183"
                     /db_xref="MIM:605650"
ORIGIN      
        1 mdstkekcds ykddlllrmg lndnkagmeg ldkekinkii meatkgsrfy gnelkkekqv
       61 nqrienmmqq kaqitsqqlr kaqlqvdrfa meleqsrnls ntivhidmda fyaavemrdn
      121 pelkdkpiav gsmsmlstsn yharrfgvra ampgfiakrl cpqliivppn fdkyravske
      181 vkeiladydp nfmamsldea ylnitkhlee rqnwpedkrr yfikmgssve ndnpgkevnk
      241 lsehersisp llfeespsdv qppgdpfqvn feeqnnpqil qnsvvfgtsa qevvkeirfr
      301 ieqkttltas agiapntmla kvcsdknkpn gqyqilpnrq avmdfikdlp irkvsgigkv
      361 tekmlkalgi itctelyqqr allsllfset swhyflhisl glgsthltrd gerksmsver
      421 tfseinkaee qyslcqelcs elaqdlqker lkgrtvtikl knvnfevktr astvssvvst
      481 aeeifaiake llkteidadf phplrlrlmg vrissfpnee drkhqqrsii gflqagnqal
      541 satectlekt dkdkfvkple mshkksffdk krserkwshq dtfkceavnk qsfqtsqpfq
      601 vlkkkmnenl eisensddcq iltcpvcfra qgcislealn khvdecldgp sisenfkmfs
      661 cshvsatkvn kkenvpassl cekqdyeahp kikeissvdc ialvdtidns skaesidals
      721 nkhskeecss lpsksfnieh chqnssstvs lenedvgsfr qeyrqpylce vktgqalvcp
      781 vcnveqktsd ltlfnvhvdv clnksfiqel rkdkfnpvnq pkessrstgs ssgvqkavtr
      841 tkrpglmtky stskkikpnn pkhtldiffk
//
LOCUS       NP_001401830              32 aa            linear   PRI 24-MAR-2023
DEFINITION  umcharacterized LOC128092248 [Homo sapiens].
ACCESSION   NP_001401830
VERSION     NP_001401830.1
DBSOURCE    REFSEQ: accession NM_001414901.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL359092.14.
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..32
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9"
     Protein         1..32
                     /product="umcharacterized LOC128092248"
                     /calculated_mol_wt=3653
     CDS             1..32
                     /gene="LOC128092248"
                     /coded_by="NM_001414901.1:1..99"
                     /db_xref="GeneID:128092248"
ORIGIN      
        1 msptaplvsa qpktlmqrks ldwfhrpfkk rt
//
LOCUS       NP_859029                465 aa            linear   PRI 03-APR-2023
DEFINITION  RAC-gamma serine/threonine-protein kinase isoform 2 [Homo sapiens].
ACCESSION   NP_859029
VERSION     NP_859029.1
DBSOURCE    REFSEQ: accession NM_181690.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 465)
  AUTHORS   Geroldinger-Simic M, Bayati S, Pohjanen E, Sepp N, Nilsson P and
            Pin E.
  TITLE     Autoantibodies against PIP4K2B and AKT3 Are Associated with Skin
            and Lung Fibrosis in Patients with Systemic Sclerosis
  JOURNAL   Int J Mol Sci 24 (6), 5629 (2023)
   PUBMED   36982700
  REMARK    GeneRIF: Autoantibodies against PIP4K2B and AKT3 Are Associated
            with Skin and Lung Fibrosis in Patients with Systemic Sclerosis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 465)
  AUTHORS   Wainstein E, Maik-Rachline G, Blenis J and Seger R.
  TITLE     AKTs do not translocate to the nucleus upon stimulation but AKT3
            can constitutively signal from the nuclear envelope
  JOURNAL   Cell Rep 41 (10), 111733 (2022)
   PUBMED   36476861
  REMARK    GeneRIF: AKTs do not translocate to the nucleus upon stimulation
            but AKT3 can constitutively signal from the nuclear envelope.
REFERENCE   3  (residues 1 to 465)
  AUTHORS   Xu J, Fang X, Qin L, Wu Q and Zhan X.
  TITLE     LncRNA PVT1 regulates biological function of osteoarthritis cells
            by regulating miR-497/AKT3 axis
  JOURNAL   Medicine (Baltimore) 101 (45), e31725 (2022)
   PUBMED   36397317
  REMARK    GeneRIF: LncRNA PVT1 regulates biological function of
            osteoarthritis cells by regulating miR-497/AKT3 axis.
REFERENCE   4  (residues 1 to 465)
  AUTHORS   Murthy SS, Tosolini A, Taguchi T and Testa JR.
  TITLE     Mapping of AKT3, encoding a member of the Akt/protein kinase B
            family, to human and rodent chromosomes by fluorescence in situ
            hybridization
  JOURNAL   Cytogenet Cell Genet 88 (1-2), 38-40 (2000)
   PUBMED   10773662
REFERENCE   5  (residues 1 to 465)
  AUTHORS   Masure S, Haefner B, Wesselink JJ, Hoefnagel E, Mortier E,
            Verhasselt P, Tuytelaars A, Gordon R and Richardson A.
  TITLE     Molecular cloning, expression and characterization of the human
            serine/threonine kinase Akt-3
  JOURNAL   Eur J Biochem 265 (1), 353-360 (1999)
   PUBMED   10491192
REFERENCE   6  (residues 1 to 465)
  AUTHORS   Nakatani K, Sakaue H, Thompson DA, Weigel RJ and Roth RA.
  TITLE     Identification of a human Akt3 (protein kinase B gamma) which
            contains the regulatory serine phosphorylation site
  JOURNAL   Biochem Biophys Res Commun 257 (3), 906-910 (1999)
   PUBMED   10208883
REFERENCE   7  (residues 1 to 465)
  AUTHORS   Brodbeck D, Cron P and Hemmings BA.
  TITLE     A human protein kinase Bgamma with regulatory phosphorylation sites
            in the activation loop and in the C-terminal hydrophobic domain
  JOURNAL   J Biol Chem 274 (14), 9133-9136 (1999)
   PUBMED   10092583
REFERENCE   8  (residues 1 to 465)
  AUTHORS   Walker KS, Deak M, Paterson A, Hudson K, Cohen P and Alessi DR.
  TITLE     Activation of protein kinase B beta and gamma isoforms by insulin
            in vivo and by 3-phosphoinositide-dependent protein kinase-1 in
            vitro: comparison with protein kinase B alpha
  JOURNAL   Biochem J 331 (Pt 1) (Pt 1), 299-308 (1998)
   PUBMED   9512493
REFERENCE   9  (residues 1 to 465)
  AUTHORS   Borgatti P, Zauli G, Colamussi ML, Gibellini D, Previati M, Cantley
            LL and Capitani S.
  TITLE     Extracellular HIV-1 Tat protein activates phosphatidylinositol 3-
            and Akt/PKB kinases in CD4+ T lymphoblastoid Jurkat cells
  JOURNAL   Eur J Immunol 27 (11), 2805-2811 (1997)
   PUBMED   9394803
REFERENCE   10 (residues 1 to 465)
  AUTHORS   Mirzaa,G.
  TITLE     MPPH Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27854409
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL592151.13, BC121154.2,
            AL591721.7 and AY005799.1.
            
            Summary: The protein encoded by this gene is a member of the AKT,
            also called PKB,  serine/threonine protein kinase family. AKT
            kinases are known to be regulators of cell signaling in response to
            insulin and growth factors. They are involved in a wide variety of
            biological processes including cell proliferation, differentiation,
            apoptosis, tumorigenesis, as well as glycogen synthesis and glucose
            uptake. This kinase has been shown to be stimulated by
            platelet-derived growth factor (PDGF), insulin, and insulin-like
            growth factor 1 (IGF1). Alternatively splice transcript variants
            encoding distinct isoforms have been described. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 3' UTR and 3'
            coding region, compared to variant 1. The resulting isoform (2) is
            shorter and has has a distinct C-terminus, compared to isoform 1.
            Variants 2 and 3 encode the same isoform (2).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY005799.1, BC121154.2 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..465
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q43-q44"
     Protein         1..465
                     /product="RAC-gamma serine/threonine-protein kinase
                     isoform 2"
                     /EC_number="2.7.11.1"
                     /note="RAC-gamma serine/threonine protein kinase; PKB
                     gamma; v-akt murine thymoma viral oncogene homolog 3
                     (protein kinase B, gamma)"
                     /calculated_mol_wt=53901
     Region          4..110
                     /region_name="PH_PKB"
                     /note="Protein Kinase B-like pleckstrin homology (PH)
                     domain; cd01241"
                     /db_xref="CDD:269947"
     Site            order(14,16..19,23,25,51..52,54,85)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:269947"
     Region          152..451
                     /region_name="STKc_PKB"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Protein Kinase B; cd05571"
                     /db_xref="CDD:270723"
     Site            order(154..155,157..158,162,175,177,189,192,209,225..228,
                     232,234,238,271,273,275..276,278,288..289,292,306..313,
                     338,344,347,435,439)
                     /site_type="active"
                     /db_xref="CDD:270723"
     Site            order(154..155,157,162,175,177,209,225..228,232,271,273,
                     275..276,278,288..289,435)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270723"
     Site            order(158,189,192,232,234,238,271,273,275,292,306..313,
                     338,344,347,439)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270723"
     Site            288..311
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270723"
     Site            447
                     /site_type="other"
                     /note="turn motif phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:270723"
     CDS             1..465
                     /gene="AKT3"
                     /gene_synonym="MPPH; MPPH2; PKB-GAMMA; PKBG; PRKBG;
                     RAC-gamma; RAC-PK-gamma; STK-2"
                     /coded_by="NM_181690.2:113..1510"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS31076.1"
                     /db_xref="GeneID:10000"
                     /db_xref="HGNC:HGNC:393"
                     /db_xref="MIM:611223"
ORIGIN      
        1 msdvtivkeg wvqkrgeyik nwrpryfllk tdgsfigyke kpqdvdlpyp lnnfsvakcq
       61 lmkterpkpn tfiirclqwt tviertfhvd tpeereewte aiqavadrlq rqeeermncs
      121 ptsqidnige eemdastthh krktmndfdy lkllgkgtfg kvilvrekas gkyyamkilk
      181 keviiakdev ahtltesrvl kntrhpflts lkysfqtkdr lcfvmeyvng gelffhlsre
      241 rvfsedrtrf ygaeivsald ylhsgkivyr dlklenlmld kdghikitdf glckegitda
      301 atmktfcgtp eylapevled ndygravdww glgvvmyemm cgrlpfynqd heklfelilm
      361 edikfprtls sdaksllsgl likdpnkrlg ggpddakeim rhsffsgvnw qdvydkklvp
      421 pfkpqvtset dtryfdeeft aqtititppe kcqqsdcgml gnwkk
//
LOCUS       NP_891549                712 aa            linear   PRI 03-APR-2023
DEFINITION  TIR domain-containing adapter molecule 1 isoform 1 [Homo sapiens].
ACCESSION   NP_891549
VERSION     NP_891549.1
DBSOURCE    REFSEQ: accession NM_182919.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 712)
  AUTHORS   Bierwagen J, Wiegand M, Laakmann K, Danov O, Limburg H, Herbel SM,
            Heimerl T, Dorna J, Jonigk D, Preusser C, Bertrams W, Braun A,
            Sewald K, Schulte LN, Bauer S, Pogge von Strandmann E,
            Bottcher-Friebertshauser E, Schmeck B and Jung AL.
  TITLE     Bacterial vesicles block viral replication in macrophages via
            TLR4-TRIF-axis
  JOURNAL   Cell Commun Signal 21 (1), 65 (2023)
   PUBMED   36978183
  REMARK    GeneRIF: Bacterial vesicles block viral replication in macrophages
            via TLR4-TRIF-axis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 712)
  AUTHORS   Cagliero J, Vernel-Pauillac F, Murray G, Adler B, Matsui M and
            Werts C.
  TITLE     Pathogenic Leptospires Limit Dendritic Cell Activation Through
            Avoidance of TLR4 and TRIF Signaling
  JOURNAL   Front Immunol 13, 911778 (2022)
   PUBMED   35812397
  REMARK    GeneRIF: Pathogenic Leptospires Limit Dendritic Cell Activation
            Through Avoidance of TLR4 and TRIF Signaling.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 712)
  AUTHORS   Sun Y, Zhang L, Hong L, Zheng W, Cui J, Liu X and Xu T.
  TITLE     MicroRNA-181b-2 and MicroRNA-21-1 Negatively Regulate NF-kappaB and
            IRF3-Mediated Innate Immune Responses via Targeting TRIF in Teleost
  JOURNAL   Front Immunol 12, 734520 (2021)
   PUBMED   34956174
  REMARK    GeneRIF: MicroRNA-181b-2 and MicroRNA-21-1 Negatively Regulate
            NF-kappaB and IRF3-Mediated Innate Immune Responses via Targeting
            TRIF in Teleost.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 712)
  AUTHORS   Ciesielska A, Matyjek M and Kwiatkowska K.
  TITLE     TLR4 and CD14 trafficking and its influence on LPS-induced
            pro-inflammatory signaling
  JOURNAL   Cell Mol Life Sci 78 (4), 1233-1261 (2021)
   PUBMED   33057840
  REMARK    GeneRIF: TLR4 and CD14 trafficking and its influence on LPS-induced
            pro-inflammatory signaling.
            Review article
REFERENCE   5  (residues 1 to 712)
  AUTHORS   Lv HL, Yu J, Pei JF, Wang HY and Guo ZL.
  TITLE     TIR-domain-containing adapter-inducing interferon-beta contributes
            to TLR3/TLR4 triggered apoptosis and inflammation in nucleus
            pulposus cells
  JOURNAL   J Biol Regul Homeost Agents 34 (2), 445-455 (2020)
   PUBMED   32529819
  REMARK    GeneRIF: TIR-domain-containing adapter-inducing interferon-beta
            contributes to TLR3/TLR4 triggered apoptosis and inflammation in
            nucleus pulposus cells.
REFERENCE   6  (residues 1 to 712)
  AUTHORS   Bin LH, Xu LG and Shu HB.
  TITLE     TIRP, a novel Toll/interleukin-1 receptor (TIR) domain-containing
            adapter protein involved in TIR signaling
  JOURNAL   J Biol Chem 278 (27), 24526-24532 (2003)
   PUBMED   12721283
REFERENCE   7  (residues 1 to 712)
  AUTHORS   Jiang Z, Zamanian-Daryoush M, Nie H, Silva AM, Williams BR and Li
            X.
  TITLE     Poly(I-C)-induced Toll-like receptor 3 (TLR3)-mediated activation
            of NFkappa B and MAP kinase is through an interleukin-1
            receptor-associated kinase (IRAK)-independent pathway employing the
            signaling components TLR3-TRAF6-TAK1-TAB2-PKR
  JOURNAL   J Biol Chem 278 (19), 16713-16719 (2003)
   PUBMED   12609980
  REMARK    Erratum:[J Biol Chem. 2003 Jun 20;278(5):23212]
REFERENCE   8  (residues 1 to 712)
  AUTHORS   Fitzgerald KA, McWhirter SM, Faia KL, Rowe DC, Latz E, Golenbock
            DT, Coyle AJ, Liao SM and Maniatis T.
  TITLE     IKKepsilon and TBK1 are essential components of the IRF3 signaling
            pathway
  JOURNAL   Nat Immunol 4 (5), 491-496 (2003)
   PUBMED   12692549
REFERENCE   9  (residues 1 to 712)
  AUTHORS   Oshiumi H, Matsumoto M, Funami K, Akazawa T and Seya T.
  TITLE     TICAM-1, an adaptor molecule that participates in Toll-like
            receptor 3-mediated interferon-beta induction
  JOURNAL   Nat Immunol 4 (2), 161-167 (2003)
   PUBMED   12539043
  REMARK    GeneRIF: identified an alternative adaptor, designated
            Toll-interleukin 1 receptor domain (TIR)-containing adaptor
            molecule (TICAM)-1, that can physically bind the TIR domain of TLR3
REFERENCE   10 (residues 1 to 712)
  AUTHORS   Yamamoto M, Sato S, Mori K, Hoshino K, Takeuchi O, Takeda K and
            Akira S.
  TITLE     Cutting edge: a novel Toll/IL-1 receptor domain-containing adapter
            that preferentially activates the IFN-beta promoter in the
            Toll-like receptor signaling
  JOURNAL   J Immunol 169 (12), 6668-6672 (2002)
   PUBMED   12471095
  REMARK    GeneRIF: TRIF is identified and characterized as a novel adaptor
            protein containing the Toll/IL-1 receptor domain, with a specific
            role in TLR3 signaling.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DR000002.1, BC035331.1,
            AB086380.1 and BX349282.2.
            
            Summary: This gene encodes an adaptor protein containing a
            Toll/interleukin-1 receptor (TIR) homology domain, which is an
            intracellular signaling domain that mediates protein-protein
            interactions between the Toll-like receptors (TLRs) and
            signal-transduction components. This protein is involved in native
            immunity against invading pathogens. It specifically interacts with
            toll-like receptor 3, but not with other TLRs, and this association
            mediates dsRNA induction of interferon-beta through activation of
            nuclear factor kappa-B, during an antiviral immune response.
            Mutations in this gene are associated with encephalopathy, acute,
            infection-induced. [provided by RefSeq, Jul 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC035331.1, SRR14038191.3946913.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2151358
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: involved in immune response or antiviral
                                      activity
            MANE Ensembl match     :: ENST00000248244.6/ ENSP00000248244.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..712
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..712
                     /product="TIR domain-containing adapter molecule 1 isoform
                     1"
                     /note="TIR domain-containing adapter molecule 1; TIR
                     domain containing adaptor inducing interferon-beta;
                     putative NF-kappa-B-activating protein 502H; TIR
                     domain-containing adapter protein inducing IFN-beta;
                     proline-rich, vinculin and TIR domain-containing protein
                     B; toll-interleukin-1 receptor domain-containing adapter
                     protein inducing interferon beta; toll like receptor
                     adaptor molecule 1"
                     /calculated_mol_wt=76291
     Region          1..153
                     /region_name="TRIF-NTD.
                     /evidence=ECO:0000269|PubMed:24311583"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Region          1..148
                     /region_name="TRIF-NTD"
                     /note="TRIF N-terminal domain; pfam17798"
                     /db_xref="CDD:436052"
     Region          84..91
                     /region_name="TRAF6-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Site            148
                     /site_type="other"
                     /note="(Microbial infection) Cleavage by CV3B.
                     /evidence=ECO:0000269|PubMed:21436888; propagated from
                     UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Site            159..160
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by viral Seneca
                     Valley virus protease 3C.
                     /evidence=ECO:0000269|PubMed:28566380; propagated from
                     UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Site            190
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by viral HAV 3CD.
                     /evidence=ECO:0000269|PubMed:21931545; propagated from
                     UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Region          207..210
                     /region_name="pLxIS motif.
                     /evidence=ECO:0000269|PubMed:25636800"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Site            210
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by TBK1.
                     /evidence=ECO:0000269|PubMed:25636800,
                     ECO:0000269|PubMed:27302953; propagated from
                     UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Region          216..316
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Region          248..255
                     /region_name="TRAF6-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Region          299..309
                     /region_name="TRAF6-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Site            312..313
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by viral EV68
                     protease C. /evidence=ECO:0000269|PubMed:24672048;
                     propagated from UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Region          336..384
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Site            372..373
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by viral HCV
                     NS3/4A. /evidence=ECO:0000269|PubMed:15710891; propagated
                     from UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Region          397..525
                     /region_name="TIR_2"
                     /note="TIR domain; cl23749"
                     /db_xref="CDD:451524"
     Region          512..712
                     /region_name="Sufficient to induce apoptosis"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Site            554
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by viral HAV 3CD.
                     /evidence=ECO:0000269|PubMed:21931545; propagated from
                     UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Region          <575..709
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     Region          620..677
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Site            653..654
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by viral EV68
                     protease C. /evidence=ECO:0000269|PubMed:24672048;
                     propagated from UniProtKB/Swiss-Prot (Q8IUC6.1)"
     Region          660..696
                     /region_name="RHIM"
                     /note="RIP homotypic interaction motif; pfam12721"
                     /db_xref="CDD:432741"
     CDS             1..712
                     /gene="TICAM1"
                     /gene_synonym="IIAE6; MyD88-3; PRVTIRB; TICAM-1; TRIF"
                     /coded_by="NM_182919.4:239..2377"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS12136.1"
                     /db_xref="GeneID:148022"
                     /db_xref="HGNC:HGNC:18348"
                     /db_xref="MIM:607601"
ORIGIN      
        1 mactgpslps afdilgaagq dkllylkhkl ktprpgcqgq dllhamvllk lgqetearis
       61 lealkadava rlvarqwagv dstedpeepp dvswavarly hllaeeklcp aslrdvayqe
      121 avrtlssrdd hrlgelqdea rnrcgwdiag dpgsirtlqs nlgclppssa lpsgtrslpr
      181 pidgvsdwsq gcslrstgsp aslasnleis qsptmpflsl hrsphgpskl cddpqaslvp
      241 epvpggcqep eemswppsge iasppelpss pppglpevap datstglpdt paapetstny
      301 pvectegsag pqslplpile pvknpcsvkd qtplqlsved ttspntkpcp ptpttpetsp
      361 pppppppsst pcsahltpss lfpsslesss eqkfynfvil haradehial rvreklealg
      421 vpdgatfced fqvpgrgels clqdaidhsa fiillltsnf dcrlslhqvn qammsnltrq
      481 gspdcvipfl plesspaqls sdtasllsgl vrldehsqif arkvantfkp hrlqarkamw
      541 rkeqdtralr eqsqhldger mqaaalnaay saylqsylsy qaqmeqlqva fgshmsfgtg
      601 apygarmpfg gqvplgappp fptwpgcpqp pplhawqagt ppppspqpaa fpqslpfpqs
      661 pafptaspap pqspglqpli ihhaqmvqlg lnnhmwnqrg sqapedktqe ae
//
LOCUS       NP_001137288             247 aa            linear   PRI 10-APR-2023
DEFINITION  brain-derived neurotrophic factor isoform a preproprotein [Homo
            sapiens].
ACCESSION   NP_001137288
VERSION     NP_001137288.1
DBSOURCE    REFSEQ: accession NM_001143816.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 247)
  AUTHORS   da Costa Lopes L, Rollemberg Poyares DL, Tufik S, La Banca de
            Oliveira S, Ribeiro da Silva Vallim J, Kiyomi Ota V, Melaragno MI,
            Ohayon M and Berlim de Mello C.
  TITLE     The effect of brain-derived neurotrophic factor Val66Met
            polymorphism on adolescent activity and rest rhythms, circadian
            preferences and attentional performance
  JOURNAL   Sleep Med 104, 64-72 (2023)
   PUBMED   36898188
  REMARK    GeneRIF: The effect of brain-derived neurotrophic factor Val66Met
            polymorphism on adolescent activity and rest rhythms, circadian
            preferences and attentional performance.
REFERENCE   2  (residues 1 to 247)
  AUTHORS   Cannavo A, Jun S, Rengo G, Marzano F, Agrimi J, Liccardo D, Elia A,
            Keceli G, Altobelli GG, Marcucci L, Megighian A, Gao E, Feng N,
            Kammers K, Ferrara N, Finos L, Koch WJ and Paolocci N.
  TITLE     beta3AR-Dependent Brain-Derived Neurotrophic Factor (BDNF)
            Generation Limits Chronic Postischemic Heart Failure
  JOURNAL   Circ Res 132 (7), 867-881 (2023)
   PUBMED   36884028
  REMARK    GeneRIF: beta3AR-Dependent Brain-Derived Neurotrophic Factor (BDNF)
            Generation Limits Chronic Postischemic Heart Failure.
REFERENCE   3  (residues 1 to 247)
  AUTHORS   Nicholson EL, Garry MI, Ney LJ, Hsu CK, Zuj DV and Felmingham KL.
  TITLE     The influence of the BDNF Val66Met genotype on emotional
            recognition memory in post-traumatic stress disorder
  JOURNAL   Sci Rep 13 (1), 5033 (2023)
   PUBMED   36977737
  REMARK    GeneRIF: The influence of the BDNF Val66Met genotype on emotional
            recognition memory in post-traumatic stress disorder.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 247)
  AUTHORS   Matusiak M, Ozieblo D, Oldak M, Rejmak E, Kaczmarek L and
            Skarzynski H.
  TITLE     Longitudinal Changes in BDNF and MMP-9 Protein Plasma Levels in
            Children after Cochlear Implantation
  JOURNAL   Int J Mol Sci 24 (4), 3714 (2023)
   PUBMED   36835126
  REMARK    GeneRIF: Longitudinal Changes in BDNF and MMP-9 Protein Plasma
            Levels in Children after Cochlear Implantation.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 247)
  AUTHORS   Rosenfeld RD, Zeni L, Haniu M, Talvenheimo J, Radka SF, Bennett L,
            Miller JA and Welcher AA.
  TITLE     Purification and identification of brain-derived neurotrophic
            factor from human serum
  JOURNAL   Protein Expr Purif 6 (4), 465-471 (1995)
   PUBMED   8527932
REFERENCE   6  (residues 1 to 247)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301612
REFERENCE   7  (residues 1 to 247)
  AUTHORS   Shintani A, Ono Y, Kaisho Y and Igarashi K.
  TITLE     Characterization of the 5'-flanking region of the human
            brain-derived neurotrophic factor gene
  JOURNAL   Biochem Biophys Res Commun 182 (1), 325-332 (1992)
   PUBMED   1339267
REFERENCE   8  (residues 1 to 247)
  AUTHORS   Ozcelik T, Rosenthal A and Francke U.
  TITLE     Chromosomal mapping of brain-derived neurotrophic factor and
            neurotrophin-3 genes in man and mouse
  JOURNAL   Genomics 10 (3), 569-575 (1991)
   PUBMED   1889807
REFERENCE   9  (residues 1 to 247)
  AUTHORS   Maisonpierre PC, Le Beau MM, Espinosa R 3rd, Ip NY, Belluscio L, de
            la Monte SM, Squinto S, Furth ME and Yancopoulos GD.
  TITLE     Human and rat brain-derived neurotrophic factor and neurotrophin-3:
            gene structures, distributions, and chromosomal localizations
  JOURNAL   Genomics 10 (3), 558-568 (1991)
   PUBMED   1889806
REFERENCE   10 (residues 1 to 247)
  AUTHORS   Jones KR and Reichardt LF.
  TITLE     Molecular cloning of a human gene that is a member of the nerve
            growth factor family
  JOURNAL   Proc Natl Acad Sci U S A 87 (20), 8060-8064 (1990)
   PUBMED   2236018
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104563.14 and KF459669.1.
            
            Summary: This gene encodes a member of the nerve growth factor
            family of proteins. Alternative splicing results in multiple
            transcript variants, at least one of which encodes a preproprotein
            that is proteolytically processed to generate the mature protein.
            Binding of this protein to its cognate receptor promotes neuronal
            survival in the adult brain. Expression of this gene is reduced in
            Alzheimer's, Parkinson's, and Huntington's disease patients. This
            gene may play a role in the regulation of the stress response and
            in the biology of mood disorders. [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (16), also known as IXabd, differs
            in the 5' UTR compared to variant 1. Variants 1, 2, 4, 5, and 7-16
            encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EF689010.1, W48706.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMN03465413
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..247
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p14.1"
     Protein         1..247
                     /product="brain-derived neurotrophic factor isoform a
                     preproprotein"
                     /note="neurotrophin; abrineurin"
                     /calculated_mol_wt=25766
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2070
     mat_peptide     19..247
                     /product="BDNF precursor form. /evidence=ECO:0000305.
                     /id=PRO_0000447533"
                     /note="propagated from UniProtKB/Swiss-Prot (P23560.1)"
                     /calculated_mol_wt=25766
     Site            57..58
                     /site_type="cleavage"
                     /note="Cleavage, by MBTPS1.
                     /evidence=ECO:0000269|PubMed:11152678; propagated from
                     UniProtKB/Swiss-Prot (P23560.1)"
     Site            121
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305|PubMed:11152678,
                     ECO:0000305|PubMed:19467646; propagated from
                     UniProtKB/Swiss-Prot (P23560.1)"
     mat_peptide     129..247
                     /product="Brain-derived neurotrophic factor.
                     /id=PRO_0000019634"
                     /note="propagated from UniProtKB/Swiss-Prot (P23560.1)"
                     /calculated_mol_wt=13512
     Region          133..240
                     /region_name="NGF"
                     /note="Nerve growth factor (NGF or beta-NGF); smart00140"
                     /db_xref="CDD:128445"
     CDS             1..247
                     /gene="BDNF"
                     /gene_synonym="ANON2; BULN2"
                     /coded_by="NM_001143816.2:861..1604"
                     /note="isoform a preproprotein is encoded by transcript
                     variant 16"
                     /db_xref="CCDS:CCDS7866.1"
                     /db_xref="GeneID:627"
                     /db_xref="HGNC:HGNC:1033"
                     /db_xref="MIM:113505"
ORIGIN      
        1 mtilfltmvi syfgcmkaap mkeanirgqg glaypgvrth gtlesvngpk agsrgltsla
       61 dtfehvieel ldedqkvrpn eennkdadly tsrvmlssqv pleppllfll eeyknyldaa
      121 nmsmrvrrhs dparrgelsv cdsisewvta adkktavdms ggtvtvlekv pvskgqlkqy
      181 fyetkcnpmg ytkegcrgid krhwnsqcrt tqsyvraltm dskkrigwrf iridtscvct
      241 ltikrgr
//
LOCUS       NP_004002               2344 aa            linear   PRI 17-APR-2023
DEFINITION  dystrophin isoform Dp260-1 [Homo sapiens].
ACCESSION   NP_004002
VERSION     NP_004002.3
DBSOURCE    REFSEQ: accession NM_004011.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2344)
  AUTHORS   Vadasz B, Felicelli C, Feng Y, Yin P, Zhang Q, Bulun S and Wei JJ.
  TITLE     Loss of dystrophin is common in uterine leiomyosarcoma: a potential
            biomarker for clinical application
  JOURNAL   Hum Pathol 134, 85-91 (2023)
   PUBMED   36549601
  REMARK    GeneRIF: Loss of dystrophin is common in uterine leiomyosarcoma: a
            potential biomarker for clinical application.
REFERENCE   2  (residues 1 to 2344)
  AUTHORS   Viggiano E, Picillo E, Passamano L, Onore ME, Piluso G, Scutifero
            M, Torella A, Nigro V and Politano L.
  TITLE     Spectrum of Genetic Variants in the Dystrophin Gene: A Single
            Centre Retrospective Analysis of 750 Duchenne and Becker Patients
            from Southern Italy
  JOURNAL   Genes (Basel) 14 (1), 214 (2023)
   PUBMED   36672955
  REMARK    GeneRIF: Spectrum of Genetic Variants in the Dystrophin Gene: A
            Single Centre Retrospective Analysis of 750 Duchenne and Becker
            Patients from Southern Italy.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 2344)
  AUTHORS   Pascual-Morena C, Cavero-Redondo I, Martinez-Vizcaino V,
            Sequi-Dominguez I, Fernandez-Bravo-Rodrigo J and Jimenez-Lopez E.
  TITLE     Dystrophin Genotype and Risk of Neuropsychiatric Disorders in
            Dystrophinopathies: A Systematic Review and Meta-Analysis
  JOURNAL   J Neuromuscul Dis 10 (2), 159-172 (2023)
   PUBMED   36565132
  REMARK    GeneRIF: Dystrophin Genotype and Risk of Neuropsychiatric Disorders
            in Dystrophinopathies: A Systematic Review and Meta-Analysis.
            Review article
REFERENCE   4  (residues 1 to 2344)
  AUTHORS   Achermann,J.C. and Vilain,E.J.
  TITLE     NR0B1-Related Adrenal Hypoplasia Congenita
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301604
REFERENCE   5  (residues 1 to 2344)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
REFERENCE   6  (residues 1 to 2344)
  AUTHORS   Darras,B.T., Urion,D.K. and Ghosh,P.S.
  TITLE     Dystrophinopathies
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301298
REFERENCE   7  (residues 1 to 2344)
  AUTHORS   Nigro V, Politano L, Nigro G, Romano SC, Molinari AM and Puca GA.
  TITLE     Detection of a nonsense mutation in the dystrophin gene by multiple
            SSCP
  JOURNAL   Hum Mol Genet 1 (7), 517-520 (1992)
   PUBMED   1307253
REFERENCE   8  (residues 1 to 2344)
  AUTHORS   Gorecki DC, Monaco AP, Derry JM, Walker AP, Barnard EA and Barnard
            PJ.
  TITLE     Expression of four alternative dystrophin transcripts in brain
            regions regulated by different promoters
  JOURNAL   Hum Mol Genet 1 (7), 505-510 (1992)
   PUBMED   1307251
REFERENCE   9  (residues 1 to 2344)
  AUTHORS   Lederfein D, Levy Z, Augier N, Mornet D, Morris G, Fuchs O, Yaffe D
            and Nudel U.
  TITLE     A 71-kilodalton protein is a major product of the Duchenne muscular
            dystrophy gene in brain and other nonmuscle tissues
  JOURNAL   Proc Natl Acad Sci U S A 89 (12), 5346-5350 (1992)
   PUBMED   1319059
REFERENCE   10 (residues 1 to 2344)
  AUTHORS   Koenig M, Monaco AP and Kunkel LM.
  TITLE     The complete sequence of dystrophin predicts a rod-shaped
            cytoskeletal protein
  JOURNAL   Cell 53 (2), 219-228 (1988)
   PUBMED   3282674
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL109609.5, AL139278.12,
            AC096506.5, AC093193.11, AC079864.22, AC093167.11, AC079175.24,
            AC079177.21, AC090632.13, AC078958.30, AC079143.17 and AC006061.1.
            On Jun 2, 2019 this sequence version replaced NP_004002.2.
            
            Summary: This gene spans a genomic range of greater than 2 Mb and
            encodes a large protein containing an N-terminal actin-binding
            domain and multiple spectrin repeats. The encoded protein forms a
            component of the dystrophin-glycoprotein complex (DGC), which
            bridges the inner cytoskeleton and the extracellular matrix.
            Deletions, duplications, and point mutations at this gene locus may
            cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy
            (BMD), or cardiomyopathy. Alternative promoter usage and
            alternative splicing result in numerous distinct transcript
            variants and protein isoforms for this gene. [provided by RefSeq,
            Dec 2016].
            
            Transcript Variant: transcript Dp260-1 uses exons 30-79, and
            originates from a promoter/exon 1 sequence located in intron 29 of
            the dystrophin gene. As a result, Dp260-1 contains a 95 bp exon 1
            encoding a unique N-terminal 16 aa MTEIILLIFFPAYFLN-sequence that
            replaces amino acids 1-1357 of the full-length dystrophin product
            (Dp427m isoform).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1965299, SAMEA1966682
                              [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2344
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp21.2-p21.1"
     Protein         1..2344
                     /product="dystrophin isoform Dp260-1"
                     /note="mutant dystrophin"
                     /calculated_mol_wt=271307
     Region          1..16
                     /region_name="dystrophin Dp260-1 unique N-terminus"
     Region          27..122
                     /region_name="repeat region 10"
     Region          <32..>597
                     /region_name="235kDa-fam"
                     /note="reticulocyte binding/rhoptry protein; TIGR01612"
                     /db_xref="CDD:130673"
     Region          120..227
                     /region_name="repeat region 11"
     Region          228..335
                     /region_name="repeat region 12"
     Region          336..437
                     /region_name="repeat region 13"
     Region          354..1228
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          438..533
                     /region_name="repeat region 14"
     Region          534..632
                     /region_name="repeat region 15"
     Region          651..760
                     /region_name="repeat region 16"
     Region          761..867
                     /region_name="repeat region 17"
     Region          764..979
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          868..977
                     /region_name="repeat region 18"
     Site            order(868..870,872..874)
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          978..1082
                     /region_name="repeat region 19"
     Region          1083..1129
                     /region_name="hinge region 3"
     Region          1130..1236
                     /region_name="repeat region 20"
     Region          1131..1347
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          1237..1345
                     /region_name="repeat region 21"
     Site            1237..1242
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1346..1461
                     /region_name="repeat region 22"
     Region          1349..1592
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          1462..1590
                     /region_name="repeat region 23"
     Site            1462..1467
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1591..1699
                     /region_name="repeat region 24"
     Region          1593..1699
                     /region_name="Spectrin"
                     /note="Spectrin repeat; pfam00435"
                     /db_xref="CDD:395348"
     Region          1673..1771
                     /region_name="hinge region 4"
     Site            1700..1704
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          1715..1751
                     /region_name="WW-domain"
     Region          1718..1747
                     /region_name="WW"
                     /note="Two conserved tryptophans domain; also known as the
                     WWP or rsp5 domain; around 40 amino acids; functions as an
                     interaction module in a diverse set of signalling
                     proteins; binds specific proline-rich sequences but at low
                     affinities compared to other...; cd00201"
                     /db_xref="CDD:238122"
     Site            order(1731,1742)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Site            1739..2067
                     /site_type="binding"
                     /note="dystroglycan binding site"
     Region          1759..1959
                     /region_name="Cysteine-rich domain"
     Region          1784..1945
                     /region_name="EFh_DMD"
                     /note="EF-hand-like motif found in dystrophin; cd16246"
                     /db_xref="CDD:320004"
     Site            order(1784..1785,1787..1788,1806,1810,1814,1816..1817,
                     1820,1831..1837,1839..1840,1843,1849,1862,1903..1904,1906)
                     /site_type="other"
                     /note="Domain interface"
                     /db_xref="CDD:320004"
     Region          1784..1823
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320004"
     Region          1789..1816
                     /region_name="EF-hand 1"
     Region          1830..1864
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320004"
     Region          1837..1865
                     /region_name="EF-hand 2"
     Site            1847..1849
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:320004"
     Region          1870..1906
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320004"
     Region          1919..1945
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320004"
     Region          1959..2344
                     /region_name="Carboxy-terminal region"
     Region          1966..2013
                     /region_name="ZZ-domain"
     Region          1970..2018
                     /region_name="ZZ_dystrophin"
                     /note="Zinc finger, ZZ type. Zinc finger present in
                     dystrophin and dystrobrevin. The ZZ motif coordinates two
                     zinc ions and most likely participates in ligand binding
                     or molecular scaffolding. Dystrophin attaches actin
                     filaments to an integral membrane...; cd02334"
                     /db_xref="CDD:239074"
     Site            order(1972,1975,1987,1990,1996,1999,2009,2013)
                     /site_type="other"
                     /note="Zinc-binding sites [ion binding]"
                     /db_xref="CDD:239074"
     Site            order(1972,1975,1996,1999)
                     /site_type="other"
                     /note="zinc cluster 1 [ion binding]"
                     /db_xref="CDD:239074"
     Site            order(1973,1984,1986,1992,1994)
                     /site_type="active"
                     /note="putative charged binding surface [active]"
                     /db_xref="CDD:239074"
     Site            order(1985,2000,2015,2018)
                     /site_type="active"
                     /note="putative hydrophobic binding surface [active]"
                     /db_xref="CDD:239074"
     Site            order(1987,1990,2009,2013)
                     /site_type="other"
                     /note="zinc cluster 2 [ion binding]"
                     /db_xref="CDD:239074"
     Site            2103..2153
                     /site_type="binding"
                     /note="alpha1-syntrophin binding site"
     Site            2154..2194
                     /site_type="binding"
                     /note="beta1-syntrophin binding site"
     Region          2217..2252
                     /region_name="(Leu)6-heptad repeat"
     CDS             1..2344
                     /gene="DMD"
                     /gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
                     DXS239; DXS268; DXS269; DXS270; DXS272; MRX85"
                     /coded_by="NM_004011.4:20..7054"
                     /note="isoform Dp260-1 is encoded by transcript variant
                     Dp260-1"
                     /db_xref="GeneID:1756"
                     /db_xref="HGNC:HGNC:2928"
                     /db_xref="MIM:300377"
ORIGIN      
        1 mtemilliff payflnavrr qklleqsiqs aqetekslhl iqesltfidk qlaayiadkv
       61 daaqmpqeaq kiqsdltshe isleemkkhn qgkeaaqrvl sqidvaqkkl qdvsmkfrlf
      121 qkpanfeqrl qeskmildev kmhlpaletk sveqevvqsq lnhcvnlyks lsevksevem
      181 viktgrqivq kkqtenpkel dervtalklh ynelgakvte rkqqlekclk lsrkmrkemn
      241 vltewlaatd meltkrsave gmpsnldsev awgkatqkei ekqkvhlksi tevgealktv
      301 lgkketlved klsllnsnwi avtsraeewl nllleyqkhm etfdqnvdhi tkwiiqadtl
      361 ldesekkkpq qkedvlkrlk aelndirpkv dstrdqaanl manrgdhcrk lvepqiseln
      421 hrfaaishri ktgkasiplk eleqfnsdiq kllepleaei qqgvnlkeed fnkdmnedne
      481 gtvkellqrg dnlqqritde rkreeikikq qllqtkhnal kdlrsqrrkk aleishqwyq
      541 ykrqaddllk clddiekkla slpeprderk ikeidrelqk kkeelnavrr qaeglsedga
      601 amaveptqiq lskrwreies kfaqfrrlnf aqihtvreet mmvmtedmpl eisyvpstyl
      661 teithvsqal leveqllnap dlcakdfedl fkqeeslkni kdslqqssgr idiihskkta
      721 alqsatpver vklqealsql dfqwekvnkm ykdrqgrfdr svekwrrfhy dikifnqwlt
      781 eaeqflrktq ipenwehaky kwylkelqdg igqrqtvvrt lnatgeeiiq qssktdasil
      841 qeklgslnlr wqevckqlsd rkkrleeqkn ilsefqrdln efvlwleead niasiplepg
      901 keqqlkekle qvkllveelp lrqgilkqln etggpvlvsa pispeeqdkl enklkqtnlq
      961 wikvsralpe kqgeieaqik dlgqlekkle dleeqlnhll lwlspirnql eiynqpnqeg
     1021 pfdvketeia vqakqpdvee ilskgqhlyk ekpatqpvkr kledlssewk avnrllqelr
     1081 akqpdlapgl ttigasptqt vtlvtqpvvt ketaisklem psslmlevpa ladfnrawte
     1141 ltdwlslldq viksqrvmvg dledinemii kqkatmqdle qrrpqleeli taaqnlknkt
     1201 snqeartiit drieriqnqw devqehlqnr rqqlnemlkd stqwleakee aeqvlgqara
     1261 kleswkegpy tvdaiqkkit etkqlakdlr qwqtnvdvan dlalkllrdy saddtrkvhm
     1321 iteninaswr sihkrvsere aaleethrll qqfpldlekf lawlteaett anvlqdatrk
     1381 erlledskgv kelmkqwqdl qgeieahtdv yhnldensqk ilrslegsdd avllqrrldn
     1441 mnfkwselrk kslnirshle assdqwkrlh lslqellvwl qlkddelsrq apiggdfpav
     1501 qkqndvhraf krelktkepv imstletvri flteqplegl eklyqeprel ppeeraqnvt
     1561 rllrkqaeev nteweklnlh sadwqrkide tlerlrelqe atdeldlklr qaevikgswq
     1621 pvgdllidsl qdhlekvkal rgeiaplken vshvndlarq lttlgiqlsp ynlstledln
     1681 trwkllqvav edrvrqlhea hrdfgpasqh flstsvqgpw eraispnkvp yyinhetqtt
     1741 cwdhpkmtel yqsladlnnv rfsayrtamk lrrlqkalcl dllslsaacd aldqhnlkqn
     1801 dqpmdilqii nclttiydrl eqehnnlvnv plcvdmclnw llnvydtgrt grirvlsfkt
     1861 giislckahl edkyrylfkq vasstgfcdq rrlglllhds iqiprqlgev asfggsniep
     1921 svrscfqfan nkpeieaalf ldwmrlepqs mvwlpvlhrv aaaetakhqa kcnickecpi
     1981 igfryrslkh fnydicqscf fsgrvakghk mhypmveyct pttsgedvrd fakvlknkfr
     2041 tkryfakhpr mgylpvqtvl egdnmetpvt linfwpvdsa passpqlshd dthsriehya
     2101 srlaemensn gsylndsisp nesiddehll iqhycqslnq dsplsqprsp aqilislese
     2161 ergelerila dleeenrnlq aeydrlkqqh ehkglsplps ppemmptspq sprdaeliae
     2221 akllrqhkgr learmqiled hnkqlesqlh rlrqlleqpq aeakvngttv sspstslqrs
     2281 dssqpmllrv vgsqtsdsmg eedllsppqd tstgleevme qlnnsfpssr grntpgkpmr
     2341 edtm
//
LOCUS       NP_001354678             284 aa            linear   PRI 17-APR-2022
DEFINITION  rab5 GDP/GTP exchange factor isoform h [Homo sapiens].
ACCESSION   NP_001354678
VERSION     NP_001354678.1
DBSOURCE    REFSEQ: accession NM_001367749.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 284)
  AUTHORS   Fan H, Xin T, Dong X, Yang F, Zhang R, Feng S, He D, Guo H and Pang
            Q.
  TITLE     RabGEF1 functions as an oncogene in U251 glioblastoma cells and is
            involved in regulating AKT and Erk pathways
  JOURNAL   Exp Mol Pathol 118, 104571 (2021)
   PUBMED   33166495
  REMARK    GeneRIF: RabGEF1 functions as an oncogene in U251 glioblastoma
            cells and is involved in regulating AKT and Erk pathways.
REFERENCE   2  (residues 1 to 284)
  AUTHORS   Yamano K, Wang C, Sarraf SA, Munch C, Kikuchi R, Noda NN, Hizukuri
            Y, Kanemaki MT, Harper W, Tanaka K, Matsuda N and Youle RJ.
  TITLE     Endosomal Rab cycles regulate Parkin-mediated mitophagy
  JOURNAL   Elife 7, e31326 (2018)
   PUBMED   29360040
  REMARK    GeneRIF: The authors demonstrate that RABGEF1, the upstream factor
            of the endosomal Rab GTPase cascade, is recruited to damaged
            mitochondria via ubiquitin binding downstream of Parkin. RABGEF1
            directs the downstream Rab proteins, RAB5 and RAB7A, to damaged
            mitochondria, whose associations are further regulated by
            mitochondrial Rab-GAPs.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 284)
  AUTHORS   Zhang JS, Yang LQ, Du BR and Gao H.
  TITLE     Higher RABEX-5 mRNA predicts unfavourable survival in patients with
            colorectal cancer
  JOURNAL   Eur Rev Med Pharmacol Sci 21 (10), 2372-2376 (2017)
   PUBMED   28617553
  REMARK    GeneRIF: RABEX-5 mRNA expression was significantly upregulated in
            colorectal cancer tissues.
REFERENCE   4  (residues 1 to 284)
  AUTHORS   Nozawa T, Minowa-Nozawa A, Aikawa C and Nakagawa I.
  TITLE     The STX6-VTI1B-VAMP3 complex facilitates xenophagy by regulating
            the fusion between recycling endosomes and autophagosomes
  JOURNAL   Autophagy 13 (1), 57-69 (2017)
   PUBMED   27791468
  REMARK    GeneRIF: RABGEF1 mediates recycling endosome fusion with
            GAS-containing autophagosome-like vacuoles through the
            STX6-VAMP3-VTI1B complex; SNAREs are involved in autophagosome
            formation in response to bacterial infection
REFERENCE   5  (residues 1 to 284)
  AUTHORS   Marichal,T., Gaudenzio,N., El Abbas,S., Sibilano,R., Zurek,O.,
            Starkl,P., Reber,L.L., Pirottin,D., Kim,J., Chambon,P., Roers,A.,
            Antoine,N., Kawakami,Y., Kawakami,T., Bureau,F., Tam,S.Y., Tsai,M.
            and Galli,S.J.
  TITLE     Guanine nucleotide exchange factor RABGEF1 regulates
            keratinocyte-intrinsic signaling to maintain skin homeostasis
  JOURNAL   J Clin Invest 126 (12), 4497-4515 (2016)
   PUBMED   27820702
  REMARK    GeneRIF: findings reveal a key role for RABGEF1 in dampening
            keratinocyte-intrinsic MYD88 signaling and sustaining epidermal
            barrier function
REFERENCE   6  (residues 1 to 284)
  AUTHORS   Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S,
            Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett
            JR, Langeberg LK, Scott JD and Pawson T.
  TITLE     Proteomic, functional, and domain-based analysis of in vivo 14-3-3
            binding proteins involved in cytoskeletal regulation and cellular
            organization
  JOURNAL   Curr Biol 14 (16), 1436-1450 (2004)
   PUBMED   15324660
REFERENCE   7  (residues 1 to 284)
  AUTHORS   Mattera R, Arighi CN, Lodge R, Zerial M and Bonifacino JS.
  TITLE     Divalent interaction of the GGAs with the Rabaptin-5-Rabex-5
            complex
  JOURNAL   EMBO J 22 (1), 78-88 (2003)
   PUBMED   12505986
  REMARK    GeneRIF: GGAs, a family of Arf-dependent clathrin adaptors involved
            in selection of TGN cargo, interact with the Rabaptin-5-Rabex-5
            complex, a Rab4/Rab5 effector regulating endosome fusion
REFERENCE   8  (residues 1 to 284)
  AUTHORS   Lippe R, Miaczynska M, Rybin V, Runge A and Zerial M.
  TITLE     Functional synergy between Rab5 effector Rabaptin-5 and exchange
            factor Rabex-5 when physically associated in a complex
  JOURNAL   Mol Biol Cell 12 (7), 2219-2228 (2001)
   PUBMED   11452015
REFERENCE   9  (residues 1 to 284)
  AUTHORS   Nimmrich I, Erdmann S, Melchers U, Finke U, Hentsch S, Moyer MP,
            Hoffmann I and Muller O.
  TITLE     Seven genes that are differentially transcribed in colorectal tumor
            cell lines
  JOURNAL   Cancer Lett 160 (1), 37-43 (2000)
   PUBMED   11098082
REFERENCE   10 (residues 1 to 284)
  AUTHORS   Horiuchi H, Lippe R, McBride HM, Rubino M, Woodman P, Stenmark H,
            Rybin V, Wilm M, Ashman K, Mann M and Zerial M.
  TITLE     A novel Rab5 GDP/GTP exchange factor complexed to Rabaptin-5 links
            nucleotide exchange to effector recruitment and function
  JOURNAL   Cell 90 (6), 1149-1159 (1997)
   PUBMED   9323142
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC027644.9.
            
            Summary: RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM
            603616) that is required for endocytic membrane fusion, and it
            serves as a specific guanine nucleotide exchange factor (GEF) for
            RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed
            9323142]).[supplied by OMIM, Mar 2010].
            
            Transcript Variant: This variant (33), as well as variants 34 and
            35, encodes isoform h.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.231851.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153733, SAMEA2154529
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..284
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.21"
     Protein         1..284
                     /product="rab5 GDP/GTP exchange factor isoform h"
                     /note="Rab5 GDP/GTP exchange factor; rabaptin-5-associated
                     exchange factor for Rab5; RAB guanine nucleotide exchange
                     factor (GEF) 1"
                     /calculated_mol_wt=32557
     Region          63..163
                     /region_name="VPS9"
                     /note="Vacuolar sorting protein 9 (VPS9) domain;
                     pfam02204"
                     /db_xref="CDD:366977"
     CDS             1..284
                     /gene="RABGEF1"
                     /gene_synonym="rabex-5; RABEX5; RAP1"
                     /coded_by="NM_001367749.1:87..941"
                     /note="isoform h is encoded by transcript variant 33"
                     /db_xref="GeneID:27342"
                     /db_xref="HGNC:HGNC:17676"
                     /db_xref="MIM:609700"
ORIGIN      
        1 mdqiekyimt rlykyvfcpe ttddekkdla iqkriralrw vtpqmlcvpv nedipevsdm
       61 vvkaitdiie mdskrvprdk lacitkcskh ifnaikitkn epasaddflp tliyivlkgn
      121 pprlqsniqy itrfcnpsrl mtgedgyyft nlccavafie kldaqslnls qedfdrymsg
      181 qtsprkqeae swspdaclgv kqmyknldll sqlnerqeri mneakklekd lidwtdgiar
      241 evqdivekyp leikppnqpl aaidsenven dklppplqpq vyag
//
LOCUS       NP_006478                566 aa            linear   PRI 18-APR-2022
DEFINITION  fibulin-1 isoform A precursor [Homo sapiens].
ACCESSION   NP_006478
VERSION     NP_006478.3
DBSOURCE    REFSEQ: accession NM_006487.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 566)
  AUTHORS   Yang F, Shi J, Zhang L, Wang H and Li Y.
  TITLE     Role of fibulin-1 gene promoter methylation in the carcinogenesis
            and development of tongue squamous cell carcinoma
  JOURNAL   Oral Surg Oral Med Oral Pathol Oral Radiol 133 (4), 432-440 (2022)
   PUBMED   35153187
  REMARK    GeneRIF: Role of fibulin-1 gene promoter methylation in the
            carcinogenesis and development of tongue squamous cell carcinoma.
REFERENCE   2  (residues 1 to 566)
  AUTHORS   Wan Y, Song Y, Chen J, Kong J, Gu C, Huang J and Zuo L.
  TITLE     Upregulated Fibulin-1 Increased Endometrial Stromal Cell Viability
            and Migration by Repressing EFEMP1-Dependent Ferroptosis in
            Endometriosis
  JOURNAL   Biomed Res Int 2022, 4809415 (2022)
   PUBMED   35127942
  REMARK    GeneRIF: Upregulated Fibulin-1 Increased Endometrial Stromal Cell
            Viability and Migration by Repressing EFEMP1-Dependent Ferroptosis
            in Endometriosis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 566)
  AUTHORS   Xu G, Geng X, Yang F and Zhang H.
  TITLE     FBLN1 promotes chondrocyte proliferation by increasing
            phosphorylation of Smad2
  JOURNAL   J Orthop Sci 27 (1), 242-248 (2022)
   PUBMED   33610427
  REMARK    GeneRIF: FBLN1 promotes chondrocyte proliferation by increasing
            phosphorylation of Smad2.
REFERENCE   4  (residues 1 to 566)
  AUTHORS   Ustunyurt E, Dundar B, Simsek D and Temur M.
  TITLE     Act of fibulin-1 in preeclamptic patients: can it be a predictive
            marker?
  JOURNAL   J Matern Fetal Neonatal Med 34 (22), 3775-3781 (2021)
   PUBMED   34238097
  REMARK    GeneRIF: Act of fibulin-1 in preeclamptic patients: can it be a
            predictive marker?
REFERENCE   5  (residues 1 to 566)
  AUTHORS   Liu XT, Liu TT, Wu MY, Chen QX, Zhuang JX and Wang Q.
  TITLE     Identifying FBLN1 (Gene ID: 2192) as a Potential Melanoma Biomarker
            for Melanoma based on an Analysis of microRNA Expression Profiles
            in the GEO and TCGA Databases
  JOURNAL   Genet Test Mol Biomarkers 25 (1), 68-78 (2021)
   PUBMED   33470885
  REMARK    GeneRIF: Identifying FBLN1 (Gene ID: 2192) as a Potential Melanoma
            Biomarker for Melanoma based on an Analysis of microRNA Expression
            Profiles in the GEO and TCGA Databases.
REFERENCE   6  (residues 1 to 566)
  AUTHORS   Sasaki T, Gohring W, Pan TC, Chu ML and Timpl R.
  TITLE     Binding of mouse and human fibulin-2 to extracellular matrix
            ligands
  JOURNAL   J Mol Biol 254 (5), 892-899 (1995)
   PUBMED   7500359
REFERENCE   7  (residues 1 to 566)
  AUTHORS   Roark EF, Keene DR, Haudenschild CC, Godyna S, Little CD and
            Argraves WS.
  TITLE     The association of human fibulin-1 with elastic fibers: an
            immunohistological, ultrastructural, and RNA study
  JOURNAL   J Histochem Cytochem 43 (4), 401-411 (1995)
   PUBMED   7534784
REFERENCE   8  (residues 1 to 566)
  AUTHORS   Balbona K, Tran H, Godyna S, Ingham KC, Strickland DK and Argraves
            WS.
  TITLE     Fibulin binds to itself and to the carboxyl-terminal
            heparin-binding region of fibronectin
  JOURNAL   J Biol Chem 267 (28), 20120-20125 (1992)
   PUBMED   1400330
REFERENCE   9  (residues 1 to 566)
  AUTHORS   Argraves WS, Tran H, Burgess WH and Dickerson K.
  TITLE     Fibulin is an extracellular matrix and plasma glycoprotein with
            repeated domain structure
  JOURNAL   J Cell Biol 111 (6 Pt 2), 3155-3164 (1990)
   PUBMED   2269669
REFERENCE   10 (residues 1 to 566)
  AUTHORS   Argraves WS, Dickerson K, Burgess WH and Ruoslahti E.
  TITLE     Fibulin, a novel protein that interacts with the fibronectin
            receptor beta subunit cytoplasmic domain
  JOURNAL   Cell 58 (4), 623-629 (1989)
   PUBMED   2527614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL021391.3, Z98047.1 and
            Z95331.2.
            On May 31, 2019 this sequence version replaced NP_006478.2.
            
            Summary: Fibulin 1 is a secreted glycoprotein that becomes
            incorporated into a fibrillar extracellular matrix. Calcium-binding
            is apparently required to mediate its binding to laminin and
            nidogen. It mediates platelet adhesion via binding fibrinogen. Four
            splice variants which differ in the 3' end have been identified.
            Each variant encodes a different isoform, but no functional
            distinctions have been identified among the four variants.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (A) has an alternate 3' sequence,
            as compared to variant D. The encoded isoform A is the shortest
            among the four isoforms, and it has a distinct C-terminus, as
            compared to isoform A.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X53741.1, SRR14038193.3667008.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..566
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.31"
     Protein         1..566
                     /product="fibulin-1 isoform A precursor"
                     /calculated_mol_wt=58629
     sig_peptide     1..29
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2942
     mat_peptide     30..566
                     /product="fibulin-1 isoform A"
                     /calculated_mol_wt=58629
     Region          30..79
                     /region_name="ANATO"
                     /note="Anaphylatoxin homologous domain; C3a, C4a and C5a
                     anaphylatoxins are protein fragments generated
                     enzymatically in serum during activation of complement
                     molecules C3, C4, and C5. They induce smooth muscle
                     contraction. These fragments are homologous to...;
                     cd00017"
                     /db_xref="CDD:237984"
     Region          97..152
                     /region_name="ANATO"
                     /note="Anaphylatoxin homologous domain; C3a, C4a and C5a
                     anaphylatoxins are protein fragments generated
                     enzymatically in serum during activation of complement
                     molecules C3, C4, and C5. They induce smooth muscle
                     contraction. These fragments are homologous to...;
                     cl00032"
                     /db_xref="CDD:444662"
     Region          199..219
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          216..243
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Region          262..289
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Region          308..355
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(308,311,327)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          356..389
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain; smart00179"
                     /db_xref="CDD:214542"
     Site            order(356,359,375)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          <395..438
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Region          421..444
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          460..484
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          <479..522
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Region          504..528
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          525..552
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     CDS             1..566
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /coded_by="NM_006487.3:104..1804"
                     /note="isoform A precursor is encoded by transcript
                     variant A"
                     /db_xref="CCDS:CCDS43028.1"
                     /db_xref="GeneID:2192"
                     /db_xref="HGNC:HGNC:3600"
                     /db_xref="MIM:135820"
ORIGIN      
        1 meraapsrrv plpllllggl allaagvdad vlleaccadg hrmathqkdc slpyateske
       61 crmvqeqcch sqleelhcat gislaneqdr catphgdnas leatfvkrcc hccllgraaq
      121 aqgqsceysl mvgyqcgqvf qaccvksqet gdldvgglqe tdkiieveee qedpylndrc
      181 rgggpckqqc rdtgdevvcs cfvgyqllsd gvscedvnec itgshscrlg escintvgsf
      241 rcqrdsscgt gyeltednsc kdidecesgi hnclpdficq ntlgsfrcrp klqcksgfiq
      301 dalgncidin eclsisapcp ightcinteg sytcqknvpn cgrgyhlnee gtrcvdvdec
      361 appaepcgkg hrcvnspgsf rcecktgyyf dgisrmcvdv necqrypgrl cghkcentlg
      421 sylcscsvgf rlsvdgrsce dinecssspc sqecanvygs yqcycrrgyq lsdvdgvtce
      481 didecalptg ghicsyrcin ipgsfqcscp ssgyrlapng rncqdidecv tgihncsine
      541 tcfniqggfr clafecpeny rrsaat
//
LOCUS       NP_997245                962 aa            linear   PRI 17-DEC-2022
DEFINITION  CRACD-like protein [Homo sapiens].
ACCESSION   NP_997245
VERSION     NP_997245.2
DBSOURCE    REFSEQ: accession NM_207362.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 962)
  AUTHORS   Alblooshi H, Al Safar H, El Kashef A, Al Ghaferi H, Shawky M, Hulse
            GK and Tay GK.
  TITLE     Stratified analyses of genome wide association study data reveal
            haplotypes for a candidate gene on chromosome 2 (KIAA1211L) is
            associated with opioid use in patients of Arabian descent
  JOURNAL   BMC Psychiatry 20 (1), 41 (2020)
   PUBMED   32005204
  REMARK    GeneRIF: Stratified analyses of genome wide association study data
            reveal haplotypes for a candidate gene on chromosome 2 (KIAA1211L)
            is associated with opioid use in patients of Arabian descent.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 962)
  AUTHORS   Scott LJ, Muglia P, Kong XQ, Guan W, Flickinger M, Upmanyu R, Tozzi
            F, Li JZ, Burmeister M, Absher D, Thompson RC, Francks C, Meng F,
            Antoniades A, Southwick AM, Schatzberg AF, Bunney WE, Barchas JD,
            Jones EG, Day R, Matthews K, McGuffin P, Strauss JS, Kennedy JL,
            Middleton L, Roses AD, Watson SJ, Vincent JB, Myers RM, Farmer AE,
            Akil H, Burns DK and Boehnke M.
  TITLE     Genome-wide association and meta-analysis of bipolar disorder in
            individuals of European ancestry
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7501-7506 (2009)
   PUBMED   19416921
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC084377.5, BM922097.1, BC068277.1 and CF593294.1.
            On Oct 18, 2006 this sequence version replaced NP_997245.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC068277.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397899.7/ ENSP00000380996.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..962
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     Protein         1..962
                     /product="CRACD-like protein"
                     /note="uncharacterized protein C2orf55; KIAA1211 like"
                     /calculated_mol_wt=102027
     Region          38..102
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NV74.3)"
     Site            92
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6NV74.3)"
     Region          131..174
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NV74.3)"
     Region          145..240
                     /region_name="DUF4592"
                     /note="Domain of unknown function (DUF4592); pfam15262"
                     /db_xref="CDD:434583"
     Region          212..871
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NV74.3)"
     Region          <305..>620
                     /region_name="PRK07003"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:235906"
     Site            490
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6NV74.3)"
     Region          <524..>826
                     /region_name="PRK07003"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:235906"
     CDS             1..962
                     /gene="CRACDL"
                     /gene_synonym="C2orf55; KIAA1211L"
                     /coded_by="NM_207362.3:299..3187"
                     /db_xref="CCDS:CCDS42720.1"
                     /db_xref="GeneID:343990"
                     /db_xref="HGNC:HGNC:33454"
ORIGIN      
        1 mistrvmdik lreaaeglge dstgkkkskf ktfkkffgkk krkespsstg sstwkqsqtr
       61 neviaiesgp vgydsedele esrgtlgsra lshdsifipe sgqdatrpvr vfsqenvcdr
      121 ikalqlkiqc nvkmgppppp gglpakrged agmsseddgl prsppemsll hdvgpgttik
      181 vsvvspdhvs dstvsarisd nslapvadfs ypaessscld nsaakhklqv kprnqrsskm
      241 rrlssraqse slsdltctpe eeeneekpll evspeerpss gqqdvapdrg pepgppaplp
      301 ppggararra rlqhssalta sveeggvpge dpssrpatpe laepesaptl rveppsppeg
      361 ppnpgpdggk qdgeappagp capatdkaee vvcapedvas pfptaipegd ttppetdpaa
      421 tseapsardg persvpkeae ptppvlpdee kgppgpapep ereaeteper gagteperig
      481 tepstapaps ppapksclkh rpaaasegpa aspplaaaes ppvepgpgsl daeaaaperp
      541 kaeraeappa gaeraaperk aerggaelrg akkfsvsscr arprpgvsrp lerasgrlpl
      601 arsgpvwrse aalddlqglp epqhakpgpr klaergpqds gdraaspagp rkspqeaaaa
      661 pgtrepcpaa qepapsedrn pfpvklrsts lslkyrdgas qevkgvkrys aevrlerslt
      721 vlpkeekcpl gtapalrgtr apsdqgkgka rppeplsskp plprkpllqs ftlphqpapp
      781 dagpgerepr keprtaekrp lrrgaekslp paatgpgadg qpappwitvt rqkrrgtldq
      841 ppnqedkpga rtlksepgkq akvpergqep vkqadfvrsk sflitpvkpa vdrkqgakln
      901 fkeglqrgis lshqnlaqsa vmmekelhql krasyastdq pswmelarkk sqawsdmpqi
      961 ik
//
LOCUS       NP_001035259             387 aa            linear   PRI 23-DEC-2022
DEFINITION  5-hydroxytryptamine receptor 4 isoform a [Homo sapiens].
ACCESSION   NP_001035259
VERSION     NP_001035259.1
DBSOURCE    REFSEQ: accession NM_001040169.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 387)
  AUTHORS   Kohler-Forsberg K, Ozenne B, Larsen SV, Poulsen AS, Landman EB, Dam
            VH, Ip CT, Jorgensen A, Svarer C, Knudsen GM, Frokjaer VG and
            Jorgensen MB.
  TITLE     Concurrent anxiety in patients with major depression and cerebral
            serotonin 4 receptor binding. A NeuroPharm-1 study
  JOURNAL   Transl Psychiatry 12 (1), 273 (2022)
   PUBMED   35821015
  REMARK    GeneRIF: Concurrent anxiety in patients with major depression and
            cerebral serotonin 4 receptor binding. A NeuroPharm-1 study.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 387)
  AUTHORS   Maillet M, Gastineau M, Bochet P, Asselin-Labat ML, Morel E,
            Laverriere JN, Lompre AM, Fischmeister R and Lezoualc'h F.
  TITLE     Functional studies of the 5'-untranslated region of human 5-HT4
            receptor mRNA
  JOURNAL   Biochem J 387 (Pt 2), 463-471 (2005)
   PUBMED   15575821
  REMARK    GeneRIF: Our results suggest a complex regulation of the h5-HT4
            receptor gene expression involving distinct promoters and
            non-coding exons.
REFERENCE   3  (residues 1 to 387)
  AUTHORS   Brattelid T, Kvingedal AM, Krobert KA, Andressen KW, Bach T, Hystad
            ME, Kaumann AJ and Levy FO.
  TITLE     Cloning, pharmacological characterisation and tissue distribution
            of a novel 5-HT4 receptor splice variant, 5-HT4(i)
  JOURNAL   Naunyn Schmiedebergs Arch Pharmacol 369 (6), 616-628 (2004)
   PUBMED   15118808
REFERENCE   4  (residues 1 to 387)
  AUTHORS   Hiroi T, Hayashi-Kobayashi N, Nagumo S, Ino M, Okawa Y, Aoba A and
            Matsui H.
  TITLE     Identification and characterization of the human serotonin-4
            receptor gene promoter
  JOURNAL   Biochem Biophys Res Commun 289 (2), 337-344 (2001)
   PUBMED   11716477
  REMARK    GeneRIF: This paper presents an analysis of the SH3TC2 promoter
            after identifying a read-through transcript of the SH3TC2 and HTR4
            loci. Available data suggests HTR4 is a separate locus with its own
            promoter, and not the product of a bi-cistronic transcript.
REFERENCE   5  (residues 1 to 387)
  AUTHORS   Bender E, Pindon A, van Oers I, Zhang YB, Gommeren W, Verhasselt P,
            Jurzak M, Leysen J and Luyten W.
  TITLE     Structure of the human serotonin 5-HT4 receptor gene and cloning of
            a novel 5-HT4 splice variant
  JOURNAL   J Neurochem 74 (2), 478-489 (2000)
   PUBMED   10646498
REFERENCE   6  (residues 1 to 387)
  AUTHORS   Claeysen S, Sebben M, Becamel C, Bockaert J and Dumuis A.
  TITLE     Novel brain-specific 5-HT4 receptor splice variants show marked
            constitutive activity: role of the C-terminal intracellular domain
  JOURNAL   Mol Pharmacol 55 (5), 910-920 (1999)
   PUBMED   10220570
REFERENCE   7  (residues 1 to 387)
  AUTHORS   Blondel O, Gastineau M, Dahmoune Y, Langlois M and Fischmeister R.
  TITLE     Cloning, expression, and pharmacology of four human
            5-hydroxytryptamine 4 receptor isoforms produced by alternative
            splicing in the carboxyl terminus
  JOURNAL   J Neurochem 70 (6), 2252-2261 (1998)
   PUBMED   9603189
REFERENCE   8  (residues 1 to 387)
  AUTHORS   Cichon S, Kesper K, Propping P and Nothen MM.
  TITLE     Assignment of the human serotonin 4 receptor gene (HTR4) to the
            long arm of chromosome 5 (5q31-q33)
  JOURNAL   Mol Membr Biol 15 (2), 75-78 (1998)
   PUBMED   9724925
REFERENCE   9  (residues 1 to 387)
  AUTHORS   Blondel O, Vandecasteele G, Gastineau M, Leclerc S, Dahmoune Y,
            Langlois M and Fischmeister R.
  TITLE     Molecular and functional characterization of a 5-HT4 receptor
            cloned from human atrium
  JOURNAL   FEBS Lett 412 (3), 465-474 (1997)
   PUBMED   9276448
REFERENCE   10 (residues 1 to 387)
  AUTHORS   Ullmer C, Schmuck K, Kalkman HO and Lubbert H.
  TITLE     Expression of serotonin receptor mRNAs in blood vessels
  JOURNAL   FEBS Lett 370 (3), 215-221 (1995)
   PUBMED   7656980
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ131724.1, AJ278979.1,
            Y08756.1 and AC114939.2.
            
            Summary: This gene is a member of the family of serotonin
            receptors, which are G protein coupled receptors that stimulate
            cAMP production in response to serotonin (5-hydroxytryptamine). The
            gene product is a glycosylated transmembrane protein that functions
            in both the peripheral and central nervous system to modulate the
            release of various neurotransmitters. Multiple transcript variants
            encoding proteins with distinct C-terminal sequences have been
            described. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (a) differs in the 5' UTR, 3'
            coding region and 3' UTR, compared to variant b. The resulting
            isoform (a) has a distinct C-terminus and is shorter than isoform
            b.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Y08756.1, AJ278979.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152474, SAMEA2153733
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..387
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     Protein         1..387
                     /product="5-hydroxytryptamine receptor 4 isoform a"
                     /note="cardiac 5-HT4 receptor; 5-hydroxytryptamine
                     (serotonin) receptor 4, G protein-coupled"
                     /calculated_mol_wt=43978
     Region          20..323
                     /region_name="7tmA_5-HT4"
                     /note="serotonin receptor subtype 4, member of the class A
                     family of seven-transmembrane G protein-coupled receptors;
                     cd15056"
                     /db_xref="CDD:320184"
     Region          21..47
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320184"
     Region          55..81
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320184"
     Region          93..123
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320184"
     Site            order(96,100..101,104..105,186,193,196..197,200,272,
                     275..276,279,294,298,302)
                     /site_type="other"
                     /note="putative ligand binding site [chemical binding]"
                     /db_xref="CDD:320184"
     Region          136..159
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320184"
     Region          189..218
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320184"
     Region          252..282
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320184"
     Region          291..316
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320184"
     CDS             1..387
                     /gene="HTR4"
                     /gene_synonym="5-HT4; 5-HT4R"
                     /coded_by="NM_001040169.2:48..1211"
                     /note="isoform a is encoded by transcript variant a"
                     /db_xref="CCDS:CCDS34270.1"
                     /db_xref="GeneID:3360"
                     /db_xref="HGNC:HGNC:5299"
                     /db_xref="MIM:602164"
ORIGIN      
        1 mdkldanvss eegfgsvekv vlltflstvi lmailgnllv mvavcwdrql rkiktnyfiv
       61 slafadllvs vlvmpfgaie lvqdiwiyge vfclvrtsld vllttasifh lccisldryy
      121 aiccqplvyr nkmtplrial mlggcwvipt fisflpimqg wnnigiidli ekrkfnqnsn
      181 stycvfmvnk pyaitcsvva fyipfllmvl ayyriyvtak ehahqiqmlq ragassesrp
      241 qsadqhsthr mrtetkaakt lciimgcfcl cwapffvtni vdpfidytvp gqvwtaflwl
      301 gyinsglnpf lyaflnksfr rafliilccd deryrrpsil gqtvpcsttt ingsthvlry
      361 tvlhrghhqe leklpihndp eslescf
//
LOCUS       NP_062456                213 aa            linear   PRI 24-DEC-2022
DEFINITION  motile sperm domain-containing protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_062456
VERSION     NP_062456.1
DBSOURCE    REFSEQ: accession NM_019556.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 213)
  AUTHORS   Cabukusta B, Berlin I, van Elsland DM, Forkink I, Spits M, de Jong
            AWM, Akkermans JJLL, Wijdeven RHM, Janssen GMC, van Veelen PA and
            Neefjes J.
  TITLE     Human VAPome Analysis Reveals MOSPD1 and MOSPD3 as Membrane Contact
            Site Proteins Interacting with FFAT-Related FFNT Motifs
  JOURNAL   Cell Rep 33 (10), 108475 (2020)
   PUBMED   33296653
  REMARK    GeneRIF: Human VAPome Analysis Reveals MOSPD1 and MOSPD3 as
            Membrane Contact Site Proteins Interacting with FFAT-Related FFNT
            Motifs.
REFERENCE   2  (residues 1 to 213)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 213)
  AUTHORS   Hirota Y, Minami T, Sato T, Yokomizo A, Matsumoto A, Goto M, Jinbo
            E and Yamamgata T.
  TITLE     Xq26.1-26.3 duplication including MOSPD1 and GPC3 identified in boy
            with short stature and double outlet right ventricle
  JOURNAL   Am J Med Genet A 173 (9), 2446-2450 (2017)
   PUBMED   28636109
  REMARK    GeneRIF: MOSPD1 is a possible candidate gene for DORV, probably in
            combination with GPC3. Further studies of the combined functions of
            MOSPD1 and GPC3 are needed, and identification of additional
            patients with MOSPD1 and GPC3 duplication should be pursued
REFERENCE   4  (residues 1 to 213)
  AUTHORS   Kara M, Axton RA, Jackson M, Ghaffari S, Buerger K, Watt AJ, Taylor
            AH, Orr B, Hardy WR, Peault B and Forrester LM.
  TITLE     A Role for MOSPD1 in Mesenchymal Stem Cell Proliferation and
            Differentiation
  JOURNAL   Stem Cells 33 (10), 3077-3086 (2015)
   PUBMED   26175344
  REMARK    GeneRIF: Our in vitro studies were supported by RNA-sequencing data
            that confirmed expression of Mospd1 mRNA in cultured, proliferating
            perivascular pre-MSCs isolated from human tissue
REFERENCE   5  (residues 1 to 213)
  AUTHORS   Hasegawa Y, Taylor D, Ovchinnikov DA, Wolvetang EJ, de Torrente L
            and Mar JC.
  TITLE     Variability of Gene Expression Identifies Transcriptional
            Regulators of Early Human Embryonic Development
  JOURNAL   PLoS Genet 11 (8), e1005428 (2015)
   PUBMED   26288249
  REMARK    GeneRIF: Results from a study on gene expression variability
            markers in early-stage human embryos shows that MOSPD1 is a
            putative marker for the 3-day, 8-cell embryo stage.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 213)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D,
            Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL,
            Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles
            ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman
            R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P,
            Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E,
            Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA,
            Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A,
            Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM,
            Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N,
            Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford
            EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J,
            Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E,
            Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke
            G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V,
            Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis
            C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H,
            Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ,
            Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL,
            Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert
            J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock
            R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD,
            Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M,
            Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob
            L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S,
            Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A,
            Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L,
            Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD,
            Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall
            J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G,
            Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N,
            Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R,
            Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM,
            Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S,
            Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C,
            Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC,
            Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor
            PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K,
            Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana
            D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A,
            Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G,
            Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL,
            Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D,
            Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ,
            Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M,
            Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T,
            Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   7  (residues 1 to 213)
  AUTHORS   Pall GS, Wallis J, Axton R, Brownstein DG, Gautier P, Buerger K,
            Mulford C, Mullins JJ and Forrester LM.
  TITLE     A novel transmembrane MSP-containing protein that plays a role in
            right ventricle development
  JOURNAL   Genomics 84 (6), 1051-1059 (2004)
   PUBMED   15533722
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CN428237.1 and BC005700.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL137163.1, SRR1803613.136891.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370783.8/ ENSP00000359819.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..213
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     Protein         1..213
                     /product="motile sperm domain-containing protein 1 isoform
                     1"
                     /note="motile sperm domain-containing protein 1"
                     /calculated_mol_wt=23955
     Region          16..115
                     /region_name="Motile_Sperm"
                     /note="MSP (Major sperm protein) domain; pfam00635"
                     /db_xref="CDD:395510"
     Site            159..179
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJG1.1)"
     Site            191..211
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJG1.1)"
     Region          205..208
                     /region_name="Nuclear export signal.
                     /evidence=ECO:0000250|UniProtKB:Q8VEL0"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJG1.1)"
     CDS             1..213
                     /gene="MOSPD1"
                     /gene_synonym="DJ473B4"
                     /coded_by="NM_019556.3:178..819"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS14645.1"
                     /db_xref="GeneID:56180"
                     /db_xref="HGNC:HGNC:25235"
                     /db_xref="MIM:300674"
ORIGIN      
        1 mhqqkrqpel vegnlpvfvf ptelifyadd qsthkqvltl ynpyefalkf kvlcttpnky
       61 vvvdaagavk pqccvdivir hrdvrschyg vidkfrlqvs eqsqrkalgr kevvatllps
      121 akeqqkeeee krlkehltes lffeqsfqpe nravssgpsl ltvflgvvci aalmlptlgd
      181 veslvplylh lsvnqklvaa yilglitmai lrt
//
LOCUS       NP_001340835             374 aa            linear   PRI 24-DEC-2022
DEFINITION  katanin p60 ATPase-containing subunit A-like 2 isoform 8 [Homo
            sapiens].
ACCESSION   NP_001340835
VERSION     NP_001340835.1
DBSOURCE    REFSEQ: accession NM_001353906.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 374)
  AUTHORS   Wei X, Liu W, Zhu X, Li Y, Zhang X, Chen J, Isachenko V, Sha Y and
            Lu Z.
  TITLE     Biallelic mutations in KATNAL2 cause male infertility due to
            oligo-astheno-teratozoospermia
  JOURNAL   Clin Genet 100 (4), 376-385 (2021)
   PUBMED   34096614
  REMARK    GeneRIF: Biallelic mutations in KATNAL2 cause male infertility due
            to oligo-astheno-teratozoospermia.
REFERENCE   2  (residues 1 to 374)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 374)
  AUTHORS   Jiang K, Rezabkova L, Hua S, Liu Q, Capitani G, Altelaar AFM, Heck
            AJR, Kammerer RA, Steinmetz MO and Akhmanova A.
  TITLE     Microtubule minus-end regulation at spindle poles by an
            ASPM-katanin complex
  JOURNAL   Nat Cell Biol 19 (5), 480-492 (2017)
   PUBMED   28436967
  REMARK    Erratum:[Nat Cell Biol. 2017 Jun 29;19(7):873. PMID: 28659643]
REFERENCE   4  (residues 1 to 374)
  AUTHORS   Williams MR, Fricano-Kugler CJ, Getz SA, Skelton PD, Lee J, Rizzuto
            CP, Geller JS, Li M and Luikart BW.
  TITLE     A Retroviral CRISPR-Cas9 System for Cellular Autism-Associated
            Phenotype Discovery in Developing Neurons
  JOURNAL   Sci Rep 6, 25611 (2016)
   PUBMED   27161796
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 374)
  AUTHORS   Cheung K, Senese S, Kuang J, Bui N, Ongpipattanakul C, Gholkar A,
            Cohn W, Capri J, Whitelegge JP and Torres JZ.
  TITLE     Proteomic Analysis of the Mammalian Katanin Family of
            Microtubule-severing Enzymes Defines Katanin p80 subunit B-like 1
            (KATNBL1) as a Regulator of Mammalian Katanin Microtubule-severing
  JOURNAL   Mol Cell Proteomics 15 (5), 1658-1669 (2016)
   PUBMED   26929214
REFERENCE   6  (residues 1 to 374)
  AUTHORS   Ververis A, Christodoulou A, Christoforou M, Kamilari C, Lederer CW
            and Santama N.
  TITLE     A novel family of katanin-like 2 protein isoforms (KATNAL2),
            interacting with nucleotide-binding proteins Nubp1 and Nubp2, are
            key regulators of different MT-based processes in mammalian cells
  JOURNAL   Cell Mol Life Sci 73 (1), 163-184 (2016)
   PUBMED   26153462
REFERENCE   7  (residues 1 to 374)
  AUTHORS   Ropers HH and Wienker T.
  TITLE     Penetrance of pathogenic mutations in haploinsufficient genes for
            intellectual disability and related disorders
  JOURNAL   Eur J Med Genet 58 (12), 715-718 (2015)
   PUBMED   26506440
REFERENCE   8  (residues 1 to 374)
  AUTHORS   Lendvai A, Johannes F, Grimm C, Eijsink JJ, Wardenaar R, Volders
            HH, Klip HG, Hollema H, Jansen RC, Schuuring E, Wisman GB and van
            der Zee AG.
  TITLE     Genome-wide methylation profiling identifies hypermethylated
            biomarkers in high-grade cervical intraepithelial neoplasia
  JOURNAL   Epigenetics 7 (11), 1268-1278 (2012)
   PUBMED   23018867
  REMARK    GeneRIF: KATNAL2 methylation correlates with severity of cervical
            intraepithelial neoplasia
REFERENCE   9  (residues 1 to 374)
  AUTHORS   Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF,
            Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford
            EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T,
            Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U,
            Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim
            E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T,
            Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR,
            Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD,
            Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD,
            Sutcliffe JS and Daly MJ.
  TITLE     Patterns and rates of exonic de novo mutations in autism spectrum
            disorders
  JOURNAL   Nature 485 (7397), 242-245 (2012)
   PUBMED   22495311
  REMARK    GeneRIF: results from de novo events and a large parallel
            case-control study provide strong evidence in favour of CHD8 and
            KATNAL2 as genuine autism risk factors
            Publication Status: Online-Only
REFERENCE   10 (residues 1 to 374)
  AUTHORS   de Moor MH, Costa PT, Terracciano A, Krueger RF, de Geus EJ,
            Toshiko T, Penninx BW, Esko T, Madden PA, Derringer J, Amin N,
            Willemsen G, Hottenga JJ, Distel MA, Uda M, Sanna S, Spinhoven P,
            Hartman CA, Sullivan P, Realo A, Allik J, Heath AC, Pergadia ML,
            Agrawal A, Lin P, Grucza R, Nutile T, Ciullo M, Rujescu D, Giegling
            I, Konte B, Widen E, Cousminer DL, Eriksson JG, Palotie A, Peltonen
            L, Luciano M, Tenesa A, Davies G, Lopez LM, Hansell NK, Medland SE,
            Ferrucci L, Schlessinger D, Montgomery GW, Wright MJ, Aulchenko YS,
            Janssens AC, Oostra BA, Metspalu A, Abecasis GR, Deary IJ,
            Raikkonen K, Bierut LJ, Martin NG, van Duijn CM and Boomsma DI.
  TITLE     Meta-analysis of genome-wide association studies for personality
  JOURNAL   Mol Psychiatry 17 (3), 337-349 (2012)
   PUBMED   21173776
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090373.11 and AC012254.12.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.72738.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..374
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     Protein         1..374
                     /product="katanin p60 ATPase-containing subunit A-like 2
                     isoform 8"
                     /EC_number="5.6.1.1"
                     /note="katanin p60 ATPase-containing subunit A-like 2; p60
                     katanin-like 2; katanin p60 subunit A like 2; katanin
                     catalytic subunit A like 2"
                     /calculated_mol_wt=41124
     Region          145..292
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            order(188..190,206,208..209,242..243)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:410865"
     CDS             1..374
                     /gene="KATNAL2"
                     /coded_by="NM_001353906.1:624..1748"
                     /note="isoform 8 is encoded by transcript variant 9"
                     /db_xref="GeneID:83473"
                     /db_xref="HGNC:HGNC:25387"
                     /db_xref="MIM:614697"
ORIGIN      
        1 mmndscqnlp kinqqrprsk ttagktgdtk slnkehpnqe vvdntrlesa nfglhisrir
       61 kdsgeenahp rrgqiidfqg lltdaikgat selalntfdh npdpserllk plsafigmns
      121 emrelaavvs rdiylhnpni kwndiiglda akqlvkeavv ypirypqlft gilspwkgll
      181 lygppgtgkt llakavatec kttffnisas tivskwrgds eklvrvlfel aryhapstif
      241 ldelesvmsq rgtasggehe gslrmktell vqmdglarse dlvfvlaasn lpclkaialq
      301 pgdrarlrlk kkksvlvhfh aagedisktg kkkkltgltv shgwgasesw rgakdtsymv
      361 aareneedar sgnp
//
LOCUS       NP_006805                271 aa            linear   PRI 24-DEC-2022
DEFINITION  proteasome inhibitor PI31 subunit isoform 1 [Homo sapiens].
ACCESSION   NP_006805
VERSION     NP_006805.2
DBSOURCE    REFSEQ: accession NM_006814.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 271)
  AUTHORS   Yang S, Tang D, Zhao YC, Liu H, Luo S, Stinchcombe TE, Glass C, Su
            L, Shen S, Christiani DC, Wang Q and Wei Q.
  TITLE     Potentially functional variants of ERAP1, PSMF1 and NCF2 in the
            MHC-I-related pathway predict non-small cell lung cancer survival
  JOURNAL   Cancer Immunol Immunother 70 (10), 2819-2833 (2021)
   PUBMED   33651148
  REMARK    GeneRIF: Potentially functional variants of ERAP1, PSMF1 and NCF2
            in the MHC-I-related pathway predict non-small cell lung cancer
            survival.
REFERENCE   2  (residues 1 to 271)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 271)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 271)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 271)
  AUTHORS   Corridoni D, Shiraishi S, Chapman T, Steevels T, Muraro D, Thezenas
            ML, Prota G, Chen JL, Gileadi U, Ternette N, Cerundolo V and
            Simmons A.
  TITLE     NOD2 and TLR2 Signal via TBK1 and PI31 to Direct Cross-Presentation
            and CD8 T Cell Responses
  JOURNAL   Front Immunol 10, 958 (2019)
   PUBMED   31114588
  REMARK    GeneRIF: NOD2 and TLR2 Signal via TBK1 and PI31 to Direct
            Cross-Presentation and CD8 T Cell Responses.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 271)
  AUTHORS   McCutchen-Maloney SL, Matsuda K, Shimbara N, Binns DD, Tanaka K,
            Slaughter CA and DeMartino GN.
  TITLE     cDNA cloning, expression, and functional characterization of PI31,
            a proline-rich inhibitor of the proteasome
  JOURNAL   J Biol Chem 275 (24), 18557-18565 (2000)
   PUBMED   10764772
REFERENCE   7  (residues 1 to 271)
  AUTHORS   Tanahashi N, Kawahara H, Murakami Y and Tanaka K.
  TITLE     The proteasome-dependent proteolytic system
  JOURNAL   Mol Biol Rep 26 (1-2), 3-9 (1999)
   PUBMED   10363639
  REMARK    Review article
REFERENCE   8  (residues 1 to 271)
  AUTHORS   Simon JH, Gaddis NC, Fouchier RA and Malim MH.
  TITLE     Evidence for a newly discovered cellular anti-HIV-1 phenotype
  JOURNAL   Nat Med 4 (12), 1397-1400 (1998)
   PUBMED   9846577
REFERENCE   9  (residues 1 to 271)
  AUTHORS   Madani N and Kabat D.
  TITLE     An endogenous inhibitor of human immunodeficiency virus in human
            lymphocytes is overcome by the viral Vif protein
  JOURNAL   J Virol 72 (12), 10251-10255 (1998)
   PUBMED   9811770
REFERENCE   10 (residues 1 to 271)
  AUTHORS   Seeger M, Ferrell K, Frank R and Dubiel W.
  TITLE     HIV-1 tat inhibits the 20 S proteasome and its 11 S
            regulator-mediated activation
  JOURNAL   J Biol Chem 272 (13), 8145-8148 (1997)
   PUBMED   9079628
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC398668.1, AL031665.19,
            BC126127.1, D88378.1 and AA699495.1.
            On Apr 23, 2007 this sequence version replaced NP_006805.1.
            
            Summary: The 26S proteasome is a multicatalytic proteinase complex
            with a highly ordered structure composed of 2 complexes, a 20S core
            and a 19S regulator. The 20S core is composed of 4 rings of 28
            non-identical subunits; 2 rings are composed of 7 alpha subunits
            and 2 rings are composed of 7 beta subunits. The 19S regulator is
            composed of a base, which contains 6 ATPase subunits and 2
            non-ATPase subunits, and a lid, which contains up to 10 non-ATPase
            subunits. Proteasomes are distributed throughout eukaryotic cells
            at a high concentration and cleave peptides in an
            ATP/ubiquitin-dependent process in a non-lysosomal pathway. An
            essential function of a modified proteasome, the immunoproteasome,
            is the processing of class I MHC peptides. This gene encodes a
            protein that inhibits the activation of the proteasome by the 11S
            and 19S regulators. Alternative transcript variants have been
            identified for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes isoform 1. Both
            variants 1 and 2 encode the same isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.109141.1,
                                           SRR1803614.103298.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335877.11/ ENSP00000338039.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..271
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     Protein         1..271
                     /product="proteasome inhibitor PI31 subunit isoform 1"
                     /note="proteasome inhibitor PI31 subunit; proteasome
                     (prosome, macropain) inhibitor subunit 1 (PI31)"
                     /calculated_mol_wt=29686
     Region          2..150
                     /region_name="Important for homodimerization and
                     interaction with FBXO7.
                     /evidence=ECO:0000269|PubMed:18495667"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92530.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (Q92530.2)"
     Region          11..148
                     /region_name="PI31_Prot_N"
                     /note="PI31 proteasome regulator N-terminal; pfam11566"
                     /db_xref="CDD:431936"
     Site            153
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92530.2)"
     Region          182..248
                     /region_name="PI31_Prot_C"
                     /note="PI31 proteasome regulator; pfam08577"
                     /db_xref="CDD:430086"
     Site            205
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8BHL8; propagated from
                     UniProtKB/Swiss-Prot (Q92530.2)"
     Site            219
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8BHL8; propagated from
                     UniProtKB/Swiss-Prot (Q92530.2)"
     Region          222..271
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92530.2)"
     Site            231
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q92530.2)"
     Site            252
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q92530.2)"
     CDS             1..271
                     /gene="PSMF1"
                     /gene_synonym="PI31"
                     /coded_by="NM_006814.5:173..988"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13010.1"
                     /db_xref="GeneID:9491"
                     /db_xref="HGNC:HGNC:9571"
                     /db_xref="MIM:617858"
ORIGIN      
        1 maglevlfas aapaitcrqd alvcflhwev vthgyfglgv gdqpgpndkk sellpagwnn
       61 nkdlyvlrye ykdgsrkllv kaitvessmi lnvleygsqq vadltlnldd yidaehlgdf
      121 hrtyknseel rsrivsgiit piheqwekan vssphrefpp atarevdplr ipphhphtsr
      181 qppwcdplgp fvvggedldp fgprrggmiv dplrsgfpra lidpssglpn rlppgavppg
      241 arfdpfgpig tsppgpnpdh lpppgyddmy l
//
LOCUS       NP_001340667             484 aa            linear   PRI 25-DEC-2022
DEFINITION  CUGBP Elav-like family member 4 isoform 27 [Homo sapiens].
ACCESSION   NP_001340667 XP_005258365
VERSION     NP_001340667.1
DBSOURCE    REFSEQ: accession NM_001353738.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 484)
  AUTHORS   Teerlink CC, Stevens J, Hernandez R, Facelli JC and Cannon-Albright
            LA.
  TITLE     An intronic variant in the CELF4 gene is associated with risk for
            colorectal cancer
  JOURNAL   Cancer Epidemiol 72, 101941 (2021)
   PUBMED   33930674
  REMARK    GeneRIF: An intronic variant in the CELF4 gene is associated with
            risk for colorectal cancer.
REFERENCE   2  (residues 1 to 484)
  AUTHORS   Barone R, Fichera M, De Grandi M, Battaglia M, Lo Faro V, Mattina T
            and Rizzo R.
  TITLE     Familial 18q12.2 deletion supports the role of RNA-binding protein
            CELF4 in autism spectrum disorders
  JOURNAL   Am J Med Genet A 173 (6), 1649-1655 (2017)
   PUBMED   28407444
  REMARK    GeneRIF: The present study refines the molecular and
            neuropsychiatric phenotype associated with 18q12.2 deletion leading
            to CELF4 haploinsufficiency and provides evidence for a role for
            CELF4 in brain development and autism spectrum disorders.
REFERENCE   3  (residues 1 to 484)
  AUTHORS   Wang X, Sun CL, Quinones-Lombrana A, Singh P, Landier W, Hageman L,
            Mather M, Rotter JI, Taylor KD, Chen YD, Armenian SH, Winick N,
            Ginsberg JP, Neglia JP, Oeffinger KC, Castellino SM, Dreyer ZE,
            Hudson MM, Robison LL, Blanco JG and Bhatia S.
  TITLE     CELF4 Variant and Anthracycline-Related Cardiomyopathy: A
            Children's Oncology Group Genome-Wide Association Study
  JOURNAL   J Clin Oncol 34 (8), 863-870 (2016)
   PUBMED   26811534
  REMARK    GeneRIF: Authors report a modifying effect of a polymorphism of
            CELF4 on the dose-dependent association between anthracyclines and
            cardiomyopathy, which possibly occurs through a pathway that
            involves the expression of abnormally spliced TNNT2 variants.
REFERENCE   4  (residues 1 to 484)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen
            AA, Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke
            L, Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM,
            Tiemeier H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst
            FC, Ward ME, Wright MJ, Davey Smith G, Deary IJ, Johannesson M,
            Plomin R, Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   5  (residues 1 to 484)
  AUTHORS   St Pourcain B, Skuse DH, Mandy WP, Wang K, Hakonarson H, Timpson
            NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding J and Smith GD.
  TITLE     Variability in the common genetic architecture of
            social-communication spectrum phenotypes during childhood and
            adolescence
  JOURNAL   Mol Autism 5 (1), 18 (2014)
   PUBMED   24564958
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 484)
  AUTHORS   Singh G, Charlet-B N, Han J and Cooper TA.
  TITLE     ETR-3 and CELF4 protein domains required for RNA binding and
            splicing activity in vivo
  JOURNAL   Nucleic Acids Res 32 (3), 1232-1241 (2004)
   PUBMED   14973222
  REMARK    GeneRIF: Determination of CELF4 protein domains required for RNA
            splicing.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 484)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 484)
  AUTHORS   Tchernev VT, Mansfield TA, Giot L, Kumar AM, Nandabalan K, Li Y,
            Mishra VS, Detter JC, Rothberg JM, Wallace MR, Southwick FS and
            Kingsmore SF.
  TITLE     The Chediak-Higashi protein interacts with SNARE complex and signal
            transduction proteins
  JOURNAL   Mol Med 8 (1), 56-64 (2002)
   PUBMED   11984006
REFERENCE   9  (residues 1 to 484)
  AUTHORS   Ladd AN, Charlet N and Cooper TA.
  TITLE     The CELF family of RNA binding proteins is implicated in
            cell-specific and developmentally regulated alternative splicing
  JOURNAL   Mol Cell Biol 21 (4), 1285-1296 (2001)
   PUBMED   11158314
REFERENCE   10 (residues 1 to 484)
  AUTHORS   Good PJ, Chen Q, Warner SJ and Herring DC.
  TITLE     A family of human RNA-binding proteins related to the Drosophila
            Bruno translational regulator
  JOURNAL   J Biol Chem 275 (37), 28583-28592 (2000)
   PUBMED   10893231
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC129908.4, AC090386.13 and
            AC015961.16.
            On Jul 21, 2017 this sequence version replaced XP_005258365.1.
            
            Summary: Members of the CELF/BRUNOL protein family contain two
            N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM
            domain, and a divergent segment of 160-230 aa between the second
            and third RRM domains. Members of this protein family regulate
            pre-mRNA alternative splicing and may also be involved in mRNA
            editing, and translation. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.236758.1,
                                           SRR1660803.103444.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..484
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.2"
     Protein         1..484
                     /product="CUGBP Elav-like family member 4 isoform 27"
                     /note="LYST-interacting protein LIP9; CUG-BP- and
                     ETR-3-like factor 4; RNA-binding protein BRUNOL4;
                     bruno-like protein 4; bruno-like 4, RNA binding protein"
                     /calculated_mol_wt=51658
     Region          18..39
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZC1.1)"
     Region          49..135
                     /region_name="RRM1_CELF3_4_5_6"
                     /note="RNA recognition motif 1 (RRM1) found in CUGBP
                     Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and
                     similar proteins; cd12632"
                     /db_xref="CDD:410041"
     Site            order(55,57,59..60,63,82,84,86,95..97,99,129,131)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410041"
     Region          121..149
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZC1.1)"
     Region          150..230
                     /region_name="RRM2_CELF3_4_5_6"
                     /note="RNA recognition motif 2 (RRM2) found in CUGBP
                     Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and
                     similar proteins; cd12635"
                     /db_xref="CDD:410043"
     Site            order(152,154,156..157,160,179,181,183,191..193,195,225,
                     227)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410043"
     Region          238..257
                     /region_name="Necessary for TNNT2 exon 5 inclusion"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZC1.1)"
     Region          413..483
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     CDS             1..484
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /coded_by="NM_001353738.2:158..1612"
                     /note="isoform 27 is encoded by transcript variant 27"
                     /db_xref="GeneID:56853"
                     /db_xref="HGNC:HGNC:14015"
                     /db_xref="MIM:612679"
ORIGIN      
        1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq
       61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt
      121 lpgmnrpiqv kpadsesrgg ssclrqppsh rklfvgmlnk qqseddvrrl feafgnieec
      181 tilrgpdgns kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm
      241 qqmagqmgmf npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa
      301 lnmnglaaap mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang
      361 ihpypaqspt aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn
      421 lfiyhlpqef gdaelmqmfl pfgfvsfdnp asaqtaiqam ngfqigmkrl kvqlkrpkda
      481 nrpy
//
LOCUS       NP_057043                296 aa            linear   PRI 25-DEC-2022
DEFINITION  thioredoxin-related transmembrane protein 2 isoform 1 precursor
            [Homo sapiens].
ACCESSION   NP_057043
VERSION     NP_057043.1
DBSOURCE    REFSEQ: accession NM_015959.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 296)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 296)
  AUTHORS   Ghosh SG, Wang L, Breuss MW, Green JD, Stanley V, Yang X, Ross D,
            Traynor BJ, Alhashem AM, Azam M, Selim L, Bastaki L, Elbastawisy
            HI, Temtamy S, Zaki M and Gleeson JG.
  TITLE     Recurrent homozygous damaging mutation in TMX2, encoding a protein
            disulfide isomerase, in four families with microlissencephaly
  JOURNAL   J Med Genet 57 (4), 274-282 (2020)
   PUBMED   31586943
  REMARK    GeneRIF: Recurrent homozygous damaging mutation in TMX2, encoding a
            protein disulfide isomerase, in four families with
            microlissencephaly.
REFERENCE   3  (residues 1 to 296)
  AUTHORS   Vandervore LV, Schot R, Milanese C, Smits DJ, Kasteleijn E, Fry AE,
            Pilz DT, Brock S, Borklu-Yucel E, Post M, Bahi-Buisson N,
            Sanchez-Soler MJ, van Slegtenhorst M, Keren B, Afenjar A, Coury SA,
            Tan WH, Oegema R, de Vries LS, Fawcett KA, Nikkels PGJ,
            Bertoli-Avella A, Al Hashem A, Alwabel AA, Tlili-Graiess K,
            Efthymiou S, Zafar F, Rana N, Bibi F, Houlden H, Maroofian R,
            Person RE, Crunk A, Savatt JM, Turner L, Doosti M, Karimiani EG,
            Saadi NW, Akhondian J, Lequin MH, Kayserili H, van der Spek PJ,
            Jansen AC, Kros JM, Verdijk RM, Milosevic NJ, Fornerod M,
            Mastroberardino PG and Mancini GMS.
  TITLE     TMX2 Is a Crucial Regulator of Cellular Redox State, and Its
            Dysfunction Causes Severe Brain Developmental Abnormalities
  JOURNAL   Am J Hum Genet 105 (6), 1126-1147 (2019)
   PUBMED   31735293
  REMARK    GeneRIF: TMX2 Dysfunction Causes Severe Brain Developmental
            Abnormalities.
REFERENCE   4  (residues 1 to 296)
  AUTHORS   Oguro A and Imaoka S.
  TITLE     Thioredoxin-related transmembrane protein 2 (TMX2) regulates the
            Ran protein gradient and importin-beta-dependent nuclear cargo
            transport
  JOURNAL   Sci Rep 9 (1), 15296 (2019)
   PUBMED   31653923
  REMARK    GeneRIF: Thioredoxin-related transmembrane protein 2 (TMX2)
            regulates the Ran protein gradient and importin-beta-dependent
            nuclear cargo transport.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 296)
  AUTHORS   Galligan JJ and Petersen DR.
  TITLE     The human protein disulfide isomerase gene family
  JOURNAL   Hum Genomics 6 (1), 6 (2012)
   PUBMED   23245351
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 296)
  AUTHORS   Lynes EM, Bui M, Yap MC, Benson MD, Schneider B, Ellgaard L,
            Berthiaume LG and Simmen T.
  TITLE     Palmitoylated TMX and calnexin target to the
            mitochondria-associated membrane
  JOURNAL   EMBO J 31 (2), 457-470 (2012)
   PUBMED   22045338
  REMARK    GeneRIF: TMX2 is enriched on the mitochondria-associated membrane.
            Targeting TMX to the MAM requires palmitoylation of two
            membrane-proximal cytosolic cysteines.
REFERENCE   7  (residues 1 to 296)
  AUTHORS   Meng X, Zhang C, Chen J, Peng S, Cao Y, Ying K, Xie Y and Mao Y.
  TITLE     Cloning and identification of a novel cDNA coding
            thioredoxin-related transmembrane protein 2
  JOURNAL   Biochem Genet 41 (3-4), 99-106 (2003)
   PUBMED   12670024
  REMARK    GeneRIF: molecular cloning and characterization of one member of
            the thioredoxin superfamily, designated as TMX2; the TMX2 cDNA
            consists of 1644 nucleotides and contains an open reading frame
            encoding a protein of 372 amino acids
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL037895.1, AF132965.1, AP001931.5 and BI762960.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the disulfide isomerase
            (PDI) family of endoplasmic reticulum (ER) proteins that catalyze
            protein folding and thiol-disulfide interchange reactions. The
            encoded protein has an N-terminal ER-signal sequence, a
            catalytically active thioredoxin domain, one transmembrane domain
            and a C-terminal ER-retention sequence. This protein is enriched on
            the mitochondria-associated-membrane of the ER via palmitoylation
            of two of its cytosolically exposed cysteines. [provided by RefSeq,
            Jan 2017].
            
            Transcript Variant: This variant (1) uses an alternate in-frame
            splice junction compared to variant 5. The resulting isoform (1)
            has the same N- and C-termini but is shorter compared to isoform 4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1029448.1,
                                           SRR3476690.371891.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278422.9/ ENSP00000278422.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..296
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     Protein         1..296
                     /product="thioredoxin-related transmembrane protein 2
                     isoform 1 precursor"
                     /note="protein disulfide isomerase family A, member 12;
                     growth-inhibiting gene 11; thioredoxin domain-containing
                     protein 14; cell proliferation-inducing gene 26 protein"
                     /calculated_mol_wt=28749
     sig_peptide     1..48
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y320.1)"
                     /calculated_mol_wt=5307
     mat_peptide     49..296
                     /product="Thioredoxin-related transmembrane protein 2.
                     /id=PRO_0000315752"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y320.1)"
                     /calculated_mol_wt=28749
     Site            103..125
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y320.1)"
     Region          109..259
                     /region_name="TMX2"
                     /note="TMX2 family; composed of proteins similar to human
                     TMX2, a 372-amino acid TRX-related transmembrane protein,
                     identified and characterized through the cloning of its
                     cDNA from a human fetal library. It contains a TRX domain
                     but the redox active CXXC motif...; cd02962"
                     /db_xref="CDD:239260"
     Site            211
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y320.1)"
     Site            243
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9Y320.1)"
     Region          269..296
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y320.1)"
     Site            288
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9Y320.1)"
     Region          293..296
                     /region_name="Di-lysine motif.
                     /evidence=ECO:0000305|PubMed:12670024"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y320.1)"
     CDS             1..296
                     /gene="TMX2"
                     /gene_synonym="CGI-31; NEDMCMS; PDIA12; PIG26; TXNDC14"
                     /coded_by="NM_015959.4:27..917"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS7967.1"
                     /db_xref="GeneID:51075"
                     /db_xref="HGNC:HGNC:30739"
                     /db_xref="MIM:616715"
ORIGIN      
        1 mavlaplial vysvprlsrw laqpyyllsa llsaafllvr klpplchglp tqredgnpcd
       61 fdwreveilm flsaivmmkn rrsitveqhi gnifmfskva ntilffrldi rmgllyitlc
      121 ivflmtckpp lymgpeyiky fndktideel erdkrvtwiv effanwsndc qsfapiyadl
      181 slkynctgln fgkvdvgryt dvstrykvst spltkqlptl ilfqggkeam rrpqidkkgr
      241 avswtfseen virefnlnel yqrakklska gdnipeeqpv astpttvsdg enkkdk
//
LOCUS       NP_001313236             711 aa            linear   PRI 26-DEC-2022
DEFINITION  zinc finger CCCH domain-containing protein 14 isoform 19 [Homo
            sapiens].
ACCESSION   NP_001313236
VERSION     NP_001313236.1
DBSOURCE    REFSEQ: accession NM_001326307.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 711)
  AUTHORS   Baker JD, Uhrich RL, Strovas TJ, Saxton AD and Kraemer BC.
  TITLE     AlphaScreen Identifies MSUT2 Inhibitors for Tauopathy-Targeting
            Therapeutic Discovery
  JOURNAL   SLAS Discov 26 (3), 400-409 (2021)
   PUBMED   32981422
  REMARK    GeneRIF: AlphaScreen Identifies MSUT2 Inhibitors for
            Tauopathy-Targeting Therapeutic Discovery.
REFERENCE   2  (residues 1 to 711)
  AUTHORS   Zhang C, Cao P, Yang A, Xia X, Li Y, Shi M, Yang Y, Wei X, Yang C
            and Zhou G.
  TITLE     Downregulation of ZC3H14 driven by chromosome 14q31 deletion
            promotes hepatocellular carcinoma progression by activating
            integrin signaling
  JOURNAL   Carcinogenesis 40 (3), 474-486 (2019)
   PUBMED   30371740
  REMARK    GeneRIF: study suggests that ZC3H14 functions as a novel tumor
            suppressor and is a candidate prognostic biomarker for
            hepatocellular carcinoma patients
REFERENCE   3  (residues 1 to 711)
  AUTHORS   Bienkowski RS, Banerjee A, Rounds JC, Rha J, Omotade OF, Gross C,
            Morris KJ, Leung SW, Pak C, Jones SK, Santoro MR, Warren ST, Zheng
            JQ, Bassell GJ, Corbett AH and Moberg KH.
  TITLE     The Conserved, Disease-Associated RNA Binding Protein dNab2
            Interacts with the Fragile X Protein Ortholog in Drosophila Neurons
  JOURNAL   Cell Rep 20 (6), 1372-1384 (2017)
   PUBMED   28793261
REFERENCE   4  (residues 1 to 711)
  AUTHORS   Meola N, Domanski M, Karadoulama E, Chen Y, Gentil C, Pultz D,
            Vitting-Seerup K, Lykke-Andersen S, Andersen JS, Sandelin A and
            Jensen TH.
  TITLE     Identification of a Nuclear Exosome Decay Pathway for Processed
            Transcripts
  JOURNAL   Mol Cell 64 (3), 520-533 (2016)
   PUBMED   27871484
REFERENCE   5  (residues 1 to 711)
  AUTHORS   Wigington CP, Morris KJ, Newman LE and Corbett AH.
  TITLE     The Polyadenosine RNA-binding Protein, Zinc Finger Cys3His Protein
            14 (ZC3H14), Regulates the Pre-mRNA Processing of a Key ATP
            Synthase Subunit mRNA
  JOURNAL   J Biol Chem 291 (43), 22442-22459 (2016)
   PUBMED   27563065
  REMARK    GeneRIF: ATP5G1 turnover increases upon depletion of ZC3H14, double
            knockdown of ZC3H14 and the nonsense-mediated decay factor, UPF1,
            rescues ATP5G1 transcript levels. Furthermore, fractionation
            reveals an increase in the amount of ATP5G1 pre-mRNA that reaches
            the cytoplasm when ZC3H14 is depleted and that ZC3H14 binds to
            ATP5G1 pre-mRNA in the nucleus.
REFERENCE   6  (residues 1 to 711)
  AUTHORS   Wheeler JM, Guthrie CR and Kraemer BC.
  TITLE     The role of MSUT-2 in tau neurotoxicity: a target for
            neuroprotection in tauopathy?
  JOURNAL   Biochem Soc Trans 38 (4), 973-976 (2010)
   PUBMED   20658987
  REMARK    GeneRIF: New neuroprotective strategies targeting MSUT-2 that may
            be effective in modulating tau neurotoxicity in human tauopathy
            disorders.
            Review article
REFERENCE   7  (residues 1 to 711)
  AUTHORS   Leung SW, Apponi LH, Cornejo OE, Kitchen CM, Valentini SR, Pavlath
            GK, Dunham CM and Corbett AH.
  TITLE     Splice variants of the human ZC3H14 gene generate multiple isoforms
            of a zinc finger polyadenosine RNA binding protein
  JOURNAL   Gene 439 (1-2), 71-78 (2009)
   PUBMED   19303045
  REMARK    GeneRIF: multiple transcripts encoding several ZC3H14 isoforms
            exist in vivo
REFERENCE   8  (residues 1 to 711)
  AUTHORS   Guthrie CR, Schellenberg GD and Kraemer BC.
  TITLE     SUT-2 potentiates tau-induced neurotoxicity in Caenorhabditis
            elegans
  JOURNAL   Hum Mol Genet 18 (10), 1825-1838 (2009)
   PUBMED   19273536
REFERENCE   9  (residues 1 to 711)
  AUTHORS   Kelly SM, Pabit SA, Kitchen CM, Guo P, Marfatia KA, Murphy TJ,
            Corbett AH and Berland KM.
  TITLE     Recognition of polyadenosine RNA by zinc finger proteins
  JOURNAL   Proc Natl Acad Sci U S A 104 (30), 12306-12311 (2007)
   PUBMED   17630287
  REMARK    GeneRIF: these proteins are members of an evolutionarily conserved
            family of poly(A) RNA binding proteins
REFERENCE   10 (residues 1 to 711)
  AUTHORS   Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH,
            Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT and Old
            LJ.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162171.4.
            
            Summary: The protein encoded by this gene is a poly(A)-binding
            protein that can affect gene expression and poly(A) tail length.
            The encoded protein may influence mRNA stability, nuclear export,
            and translation. [provided by RefSeq, May 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.142163.1,
                                           SRR1803614.172780.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..711
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q31.3"
     Protein         1..711
                     /product="zinc finger CCCH domain-containing protein 14
                     isoform 19"
                     /note="zinc finger CCCH domain-containing protein 14;
                     nuclear protein UKp68; renal carcinoma antigen NY-REN-37;
                     mammalian suppressor of tau pathology-2"
                     /calculated_mol_wt=79891
     Region          576..593
                     /region_name="zf-CCCH_2"
                     /note="RNA-binding, Nab2-type zinc finger; pfam14608"
                     /db_xref="CDD:434069"
     Region          596..614
                     /region_name="zf-CCCH_2"
                     /note="RNA-binding, Nab2-type zinc finger; pfam14608"
                     /db_xref="CDD:434069"
     Region          656..673
                     /region_name="zf-CCCH_2"
                     /note="RNA-binding, Nab2-type zinc finger; pfam14608"
                     /db_xref="CDD:434069"
     CDS             1..711
                     /gene="ZC3H14"
                     /gene_synonym="MRT56; MSUT-2; NY-REN-37; SUT2; UKp68"
                     /coded_by="NM_001326307.2:98..2233"
                     /note="isoform 19 is encoded by transcript variant 19"
                     /db_xref="CCDS:CCDS86418.1"
                     /db_xref="GeneID:79882"
                     /db_xref="HGNC:HGNC:20509"
                     /db_xref="MIM:613279"
ORIGIN      
        1 meigteisrk irsaikgklq elgayvdeel pdyimvmvan kksqdqmted lslflgnnti
       61 rftvwlhgvl dklrsvttep sslkssdtni fdsnvpsnks nfsrgderrh eaavpplaip
      121 sarpekrdsr vstssqeskt tnvrqtyddg aatrlmstvk plrepapsed vidikpepdd
      181 lidedlnfvq enplsqkkpt vtltygssrp sieiyrppas rnadsgvhln rlqfqqqqns
      241 ihaakqldmq sswvyetgrl cepevlnsle etyspffrnn sekmsmeden frkrklpvvs
      301 svvkvkkfnh dgeeeeeddd ygsrtgsiss svsvpakper rpslppskqa nknlilkais
      361 eaqesvtktt nystvpqkqt lpvaprtrts qeellaevvq gqsrtprisp pikeeetkgd
      421 sveknqdyyd mesmvhadtr sfilkkpkls eevvvapnqe sgmktadslr vlsghlmqtr
      481 dlvqpdkpas pkfivtldgv psppgymsdq eedmcfegmk pvnqtaasnk glrgllhpqq
      541 lhllsrqled pngsfsnaem selsvaqkpe kllerckywp ackngdecay hhpispckaf
      601 pnckfaekcl fvhpnckyda kctkpdcpft hvsrripvls pkpavappap psssqlcryf
      661 packkmecpf yhpkhcrfnt qctrpdctfy hptinvpprh alkwirpqts e
//
LOCUS       NP_001338445             255 aa            linear   PRI 26-DEC-2022
DEFINITION  cytotoxic granule associated RNA binding protein TIA1 isoform 11
            [Homo sapiens].
ACCESSION   NP_001338445
VERSION     NP_001338445.1
DBSOURCE    REFSEQ: accession NM_001351516.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 255)
  AUTHORS   Sekiyama N, Takaba K, Maki-Yonekura S, Akagi KI, Ohtani Y, Imamura
            K, Terakawa T, Yamashita K, Inaoka D, Yonekura K, Kodama TS and
            Tochio H.
  TITLE     ALS mutations in the TIA-1 prion-like domain trigger highly
            condensed pathogenic structures
  JOURNAL   Proc Natl Acad Sci U S A 119 (38), e2122523119 (2022)
   PUBMED   36112647
  REMARK    GeneRIF: ALS mutations in the TIA-1 prion-like domain trigger
            highly condensed pathogenic structures.
REFERENCE   2  (residues 1 to 255)
  AUTHORS   Bertuzzi C, Germinario G, Righi S, Ravaioli M, Agostinelli C,
            Pession A, D'Errico A, Sabattini E and Vasuri F.
  TITLE     The role of peritumoral CD8 + /TIA1 + lymphocytes in hepatocellular
            carcinoma aggressiveness and recurrence after surgical resection
  JOURNAL   Pathol Res Pract 237, 154016 (2022)
   PUBMED   35872367
  REMARK    GeneRIF: The role of peritumoral CD8 + /TIA1 + lymphocytes in
            hepatocellular carcinoma aggressiveness and recurrence after
            surgical resection.
REFERENCE   3  (residues 1 to 255)
  AUTHORS   Li MZ, Liu EJ, Zhou QZ, Li SH, Liu SJ, Yu HT, Pan QH, Sun F, He T,
            Wang WJ, Ke D, Feng YQ, Li J and Wang JZ.
  TITLE     Intracellular accumulation of tau inhibits autophagosome formation
            by activating TIA1-amino acid-mTORC1 signaling
  JOURNAL   Mil Med Res 9 (1), 38 (2022)
   PUBMED   35799293
  REMARK    GeneRIF: Intracellular accumulation of tau inhibits autophagosome
            formation by activating TIA1-amino acid-mTORC1 signaling.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 255)
  AUTHORS   Fernandez-Gomez A and Izquierdo JM.
  TITLE     The Multifunctional Faces of T-Cell Intracellular Antigen 1 in
            Health and Disease
  JOURNAL   Int J Mol Sci 23 (3), 1400 (2022)
   PUBMED   35163320
  REMARK    GeneRIF: The Multifunctional Faces of T-Cell Intracellular Antigen
            1 in Health and Disease.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 255)
  AUTHORS   Peng G, Gu A, Niu H, Chen L, Chen Y, Zhou M, Zhang Y, Liu J, Cai L,
            Liang D, Liu X and Liu M.
  TITLE     Amyotrophic lateral sclerosis (ALS) linked mutation in Ubiquilin 2
            affects stress granule assembly via TIA-1
  JOURNAL   CNS Neurosci Ther 28 (1), 105-115 (2022)
   PUBMED   34750982
  REMARK    GeneRIF: Amyotrophic lateral sclerosis (ALS) linked mutation in
            Ubiquilin 2 affects stress granule assembly via TIA-1.
REFERENCE   6  (residues 1 to 255)
  AUTHORS   Tian Q, Taupin J, Elledge S, Robertson M and Anderson P.
  TITLE     Fas-activated serine/threonine kinase (FAST) phosphorylates TIA-1
            during Fas-mediated apoptosis
  JOURNAL   J Exp Med 182 (3), 865-874 (1995)
   PUBMED   7544399
REFERENCE   7  (residues 1 to 255)
  AUTHORS   Herve-Minvielle A and Sara SJ.
  TITLE     Rapid habituation of auditory responses of locus coeruleus cells in
            anaesthetized and awake rats
  JOURNAL   Neuroreport 6 (10), 1363-1368 (1995)
   PUBMED   7488725
REFERENCE   8  (residues 1 to 255)
  AUTHORS   Kawakami A, Tian Q, Streuli M, Poe M, Edelhoff S, Disteche CM and
            Anderson P.
  TITLE     Intron-exon organization and chromosomal localization of the human
            TIA-1 gene
  JOURNAL   J Immunol 152 (10), 4937-4945 (1994)
   PUBMED   8176212
REFERENCE   9  (residues 1 to 255)
  AUTHORS   Tian Q, Streuli M, Saito H, Schlossman SF and Anderson P.
  TITLE     A polyadenylate binding protein localized to the granules of
            cytolytic lymphocytes induces DNA fragmentation in target cells
  JOURNAL   Cell 67 (3), 629-639 (1991)
   PUBMED   1934064
REFERENCE   10 (residues 1 to 255)
  AUTHORS   Anderson P, Nagler-Anderson C, O'Brien C, Levine H, Watkins S,
            Slayter HS, Blue ML and Schlossman SF.
  TITLE     A monoclonal antibody reactive with a 15-kDa cytoplasmic
            granule-associated protein defines a subpopulation of CD8+ T
            lymphocytes
  JOURNAL   J Immunol 144 (2), 574-582 (1990)
   PUBMED   2104899
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016700.8.
            
            Summary: The product encoded by this gene is a member of a
            RNA-binding protein family and possesses nucleolytic activity
            against cytotoxic lymphocyte (CTL) target cells. It has been
            suggested that this protein may be involved in the induction of
            apoptosis as it preferentially recognizes poly(A) homopolymers and
            induces DNA fragmentation in CTL targets. The major
            granule-associated species is a 15-kDa protein that is thought to
            be derived from the carboxyl terminus of the 40-kDa product by
            proteolytic processing. Alternative splicing resulting in different
            isoforms has been found for this gene. [provided by RefSeq, May
            2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX353068.2, SRR14038194.2629034.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..255
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     Protein         1..255
                     /product="cytotoxic granule associated RNA binding protein
                     TIA1 isoform 11"
                     /note="p40-TIA-1 (containing p15-TIA-1); T-cell-restricted
                     intracellular antigen-1; cytotoxic granule associated RNA
                     binding protein TIA1"
                     /calculated_mol_wt=28264
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P31483.3)"
     Region          8..81
                     /region_name="RRM1_TIA1"
                     /note="RNA recognition motif 1 (RRM1) found in nucleolysin
                     TIA-1 isoform p40 (p40-TIA-1) and similar proteins;
                     cd12615"
                     /db_xref="CDD:410027"
     Region          104..181
                     /region_name="RRM2_TIA1"
                     /note="RNA recognition motif 2 (RRM2) found in nucleolysin
                     TIA-1 isoform p40 (p40-TIA-1) and similar proteins;
                     cd12618"
                     /db_xref="CDD:410030"
     Site            order(116,118,120,124,127,131..132)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:410030"
     Region          214..>255
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     CDS             1..255
                     /gene="TIA1"
                     /gene_synonym="ALS26; TIA-1; WDM"
                     /coded_by="NM_001351516.2:199..966"
                     /note="isoform 11 is encoded by transcript variant 11"
                     /db_xref="GeneID:7072"
                     /db_xref="HGNC:HGNC:11802"
                     /db_xref="MIM:603518"
ORIGIN      
        1 medempktly vgnlsrdvte alilqlfsqi gpcknckmim dtagndpycf vefhehrhaa
       61 aalaamngrk imgkevkvnw attpssqkkd tssstvvstq rsqdhfhvfv gdlspeitte
      121 dikaafapfg risdarvvkd matgkskgyg fvsffnkwda enaiqqmggq wlggrqirtn
      181 watrkppapk styesntkql sydevvnqss psnctvycgg vtsglteqlm rqtfspfgqi
      241 meirvfpdkg ysfvr
//
LOCUS       NP_001317293             477 aa            linear   PRI 26-DEC-2022
DEFINITION  histone-lysine N-methyltransferase SMYD1 isoform 2 [Homo sapiens].
ACCESSION   NP_001317293 XP_005264213
VERSION     NP_001317293.1
DBSOURCE    REFSEQ: accession NM_001330364.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 477)
  AUTHORS   Shamloul A, Steinemann G, Roos K, Liem CH, Bernd J, Braun T,
            Zakrzewicz A and Berkholz J.
  TITLE     The Methyltransferase Smyd1 Mediates LPS-Triggered Up-Regulation of
            IL-6 in Endothelial Cells
  JOURNAL   Cells 10 (12), 3515 (2021)
   PUBMED   34944023
  REMARK    GeneRIF: The Methyltransferase Smyd1 Mediates LPS-Triggered
            Up-Regulation of IL-6 in Endothelial Cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 477)
  AUTHORS   Becker S, Steinemann G, Karle W, Roos K, Liem CH, Muralikumar S,
            Volkamer A, Munz B, Zakrzewicz A and Berkholz J.
  TITLE     Stability of Smyd1 in endothelial cells is controlled by
            PML-dependent SUMOylation upon cytokine stimulation
  JOURNAL   Biochem J 478 (1), 217-234 (2021)
   PUBMED   33241844
  REMARK    GeneRIF: Stability of Smyd1 in endothelial cells is controlled by
            PML-dependent SUMOylation upon cytokine stimulation.
REFERENCE   3  (residues 1 to 477)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 477)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 477)
  AUTHORS   Chow MZ, Sadrian SN, Keung W, Geng L, Ren L, Kong CW, Wong AO,
            Hulot JS, Chen CS, Costa KD, Hajjar RJ and Li RA.
  TITLE     Modulation of chromatin remodeling proteins SMYD1 and SMARCD1
            promotes contractile function of human pluripotent stem
            cell-derived ventricular cardiomyocyte in 3D-engineered cardiac
            tissues
  JOURNAL   Sci Rep 9 (1), 7502 (2019)
   PUBMED   31097748
  REMARK    GeneRIF: Modulation of chromatin remodeling proteins SMYD1 and
            SMARCD1 promotes contractile function of human pluripotent stem
            cell-derived ventricular cardiomyocyte in 3D-engineered cardiac
            tissues.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 477)
  AUTHORS   Yang J and Everett AD.
  TITLE     Hepatoma-derived growth factor represses SET and MYND domain
            containing 1 gene expression through interaction with C-terminal
            binding protein
  JOURNAL   J Mol Biol 386 (4), 938-950 (2009)
   PUBMED   19162039
  REMARK    GeneRIF: HDGF functions as a transcriptional repressor of the SMYD1
            gene through interaction with the transcriptional corepressor CtBP.
REFERENCE   7  (residues 1 to 477)
  AUTHORS   Sims RJ 3rd, Weihe EK, Zhu L, O'Malley S, Harriss JV and Gottlieb
            PD.
  TITLE     m-Bop, a repressor protein essential for cardiogenesis, interacts
            with skNAC, a heart- and muscle-specific transcription factor
  JOURNAL   J Biol Chem 277 (29), 26524-26529 (2002)
   PUBMED   12011100
REFERENCE   8  (residues 1 to 477)
  AUTHORS   Gottlieb PD, Pierce SA, Sims RJ, Yamagishi H, Weihe EK, Harriss JV,
            Maika SD, Kuziel WA, King HL, Olson EN, Nakagawa O and Srivastava
            D.
  TITLE     Bop encodes a muscle-restricted protein containing MYND and SET
            domains and is essential for cardiac differentiation and
            morphogenesis
  JOURNAL   Nat Genet 31 (1), 25-32 (2002)
   PUBMED   11923873
REFERENCE   9  (residues 1 to 477)
  AUTHORS   Srivastava D, Gottlieb PD and Olson EN.
  TITLE     Molecular mechanisms of ventricular hypoplasia
  JOURNAL   Cold Spring Harb Symp Quant Biol 67, 121-125 (2002)
   PUBMED   12858532
  REMARK    GeneRIF: effects of gene mutations on ventricular development
REFERENCE   10 (residues 1 to 477)
  AUTHORS   Hwang I and Gottlieb PD.
  TITLE     Bop: a new T-cell-restricted gene located upstream of and opposite
            to mouse CD8b
  JOURNAL   Immunogenetics 42 (5), 353-361 (1995)
   PUBMED   7590968
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092836.4.
            On Aug 29, 2016 this sequence version replaced XP_005264213.1.
            
            Transcript Variant: This variant (2).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.145153.1,
                                           DRR138518.697431.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151741, SAMEA2153733
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..477
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     Protein         1..477
                     /product="histone-lysine N-methyltransferase SMYD1 isoform
                     2"
                     /EC_number="2.1.1.354"
                     /note="zinc finger, MYND domain containing 18; CD8 beta
                     opposite; SET and MYND domain-containing protein 1;
                     histone-lysine N-methyltransferase SMYD1"
                     /calculated_mol_wt=54916
     Region          7..268
                     /region_name="SET_SMYD1"
                     /note="SET domain (including post-SET domain) found in SET
                     and MYND domain-containing protein 1 (SMYD1) and similar
                     proteins; cd10526"
                     /db_xref="CDD:380924"
     Site            order(17..19,135,179..183,202..206,237,239,257,259)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:380924"
     Site            order(17,19,133,135,180,202..206,239,257,259)
                     /site_type="other"
                     /note="SAM binding site"
                     /db_xref="CDD:380924"
     Region          52..90
                     /region_name="zf-MYND"
                     /note="MYND finger; pfam01753"
                     /db_xref="CDD:426410"
     Site            order(103,177,179..183,192,202,238..239,241,257)
                     /site_type="other"
                     /note="putative polypeptide substrate binding site
                     [polypeptide binding]"
                     /db_xref="CDD:380924"
     Site            order(208,261,263,266)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:380924"
     Site            order(208,261,263,266)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:380924"
     CDS             1..477
                     /gene="SMYD1"
                     /gene_synonym="BOP; KMT3D; ZMYND18; ZMYND22"
                     /coded_by="NM_001330364.2:41..1474"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS82480.1"
                     /db_xref="GeneID:150572"
                     /db_xref="HGNC:HGNC:20986"
                     /db_xref="MIM:606846"
ORIGIN      
        1 mtigrmenve vftaegkgrg lkatkefwaa diifaerays avvfdslvnf vchtcfkrqe
       61 klhrcgqckf ahycdrtcqk dawlnhknec saikrygkvp nenirlaari mwrveregtg
      121 ltegclvsvd dlqnhvehfg eeeqkdlrvd vdtflqywpp qsqqfsmqyi shifgvincn
      181 gftlsdqrgl qavgvgifpn lglvnhdcwp nctvifnngk ielralgkis egeeltvsyi
      241 dflnvseerk rqlkkqyyfd ctcehcqkkl kddlflgvkd npkpsqevvk emiqfskdtl
      301 ekidkarseg lyhevvklcr eclekqepvf adtniymlrm lsivsevlsy lqafeeasfy
      361 arrmvdgymk lyhpnnaqlg mavmragltn whagnievgh gmickayail lvthgpshpi
      421 tkdleamrvq temelrmfrq nefmyykmre aalnnqpmqv maepsnepsp alfhkkq
//
LOCUS       NP_001070984             469 aa            linear   PRI 26-DEC-2022
DEFINITION  zinc transporter SLC39A7 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001070984
VERSION     NP_001070984.1
DBSOURCE    REFSEQ: accession NM_001077516.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 469)
  AUTHORS   Chen PH, Wu J, Xu Y, Ding CC, Mestre AA, Lin CC, Yang WH and Chi
            JT.
  TITLE     Zinc transporter ZIP7 is a novel determinant of ferroptosis
  JOURNAL   Cell Death Dis 12 (2), 198 (2021)
   PUBMED   33608508
  REMARK    GeneRIF: Zinc transporter ZIP7 is a novel determinant of
            ferroptosis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 469)
  AUTHORS   Zhou H, Zhu Y, Qi H, Liang L, Wu H, Yuan J and Hu Q.
  TITLE     Evaluation of the prognostic values of solute carrier (SLC) family
            39 genes for patients with lung adenocarcinoma
  JOURNAL   Aging (Albany NY) 13 (4), 5312-5331 (2021)
   PUBMED   33535184
  REMARK    GeneRIF: Evaluation of the prognostic values of solute carrier
            (SLC) family 39 genes for patients with lung adenocarcinoma.
REFERENCE   3  (residues 1 to 469)
  AUTHORS   Xie W, Xue Q, Niu L and Wong KW.
  TITLE     Zinc transporter SLC39A7 relieves zinc deficiency to suppress
            alternative macrophage activation and impairment of phagocytosis
  JOURNAL   PLoS One 15 (7), e0235776 (2020)
   PUBMED   32645059
  REMARK    GeneRIF: Zinc transporter SLC39A7 relieves zinc deficiency to
            suppress alternative macrophage activation and impairment of
            phagocytosis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 469)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 469)
  AUTHORS   Zhang Y, Bai J, Si W, Yuan S, Li Y and Chen X.
  TITLE     SLC39A7, regulated by miR-139-5p, induces cell proliferation,
            migration and inhibits apoptosis in gastric cancer via Akt/mTOR
            signaling pathway
  JOURNAL   Biosci Rep 40 (2) (2020)
   PUBMED   32109290
  REMARK    GeneRIF: SLC39A7, regulated by miR-139-5p, induces cell
            proliferation, migration and inhibits apoptosis in gastric cancer
            via Akt/mTOR signaling pathway.
REFERENCE   6  (residues 1 to 469)
  AUTHORS   Taylor KM, Morgan HE, Johnson A and Nicholson RI.
  TITLE     Structure-function analysis of HKE4, a member of the new LIV-1
            subfamily of zinc transporters
  JOURNAL   Biochem J 377 (Pt 1), 131-139 (2004)
   PUBMED   14525538
  REMARK    GeneRIF: Structure-function analysis of HKE4, a zinc transporter.
REFERENCE   7  (residues 1 to 469)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD,
            Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker
            DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP,
            Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY,
            Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman
            LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M,
            Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD,
            Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ,
            Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S,
            Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL,
            Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL,
            Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson
            CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK,
            Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR,
            Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M,
            Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A,
            Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K,
            Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore
            B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM,
            Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith
            M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G,
            Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A,
            Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL,
            Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt
            JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard
            T, Sulston JE, Dunham I, Rogers J and Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   8  (residues 1 to 469)
  AUTHORS   Taylor KM, Morgan HE, Johnson A, Hadley LJ and Nicholson RI.
  TITLE     Structure-function analysis of LIV-1, the breast cancer-associated
            protein that belongs to a new subfamily of zinc transporters
  JOURNAL   Biochem J 375 (Pt 1), 51-59 (2003)
   PUBMED   12839489
REFERENCE   9  (residues 1 to 469)
  AUTHORS   Ando A, Kikuti YY, Shigenari A, Kawata H, Okamoto N, Shiina T, Chen
            L, Ikemura T, Abe K, Kimura M and Inoko H.
  TITLE     cDNA cloning of the human homologues of the mouse Ke4 and Ke6 genes
            at the centromeric end of the human MHC region
  JOURNAL   Genomics 35 (3), 600-602 (1996)
   PUBMED   8812499
REFERENCE   10 (residues 1 to 469)
  AUTHORS   Hanson IM and Trowsdale J.
  TITLE     Colinearity of novel genes in the class II regions of the MHC in
            mouse and human
  JOURNAL   Immunogenetics 34 (1), 5-11 (1991)
   PUBMED   1855816
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA573310.1 and BC000645.2.
            
            Summary: The protein encoded by this gene transports zinc from the
            Golgi and endoplasmic reticulum to the cytoplasm. This transport
            may be important for activation of tyrosine kinases, some of which
            could be involved in cancer progression. Therefore, modulation of
            the encoded protein could be useful as a therapeutic agent against
            cancer. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jan 2014].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1 and 2 encode the same protein
            (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC000645.2, SRR1803614.57399.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..469
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.32"
     Protein         1..469
                     /product="zinc transporter SLC39A7 isoform 1 precursor"
                     /note="Ke4 gene, mouse, human homolog of; solute carrier
                     family 39 (zinc transporter), member 7; HLA class II
                     region expressed gene KE4; zinc transporter SLC39A7;
                     histidine-rich membrane protein Ke4; really interesting
                     new gene 5 protein; zrt-, Irt-like protein 7; zinc
                     transporter 7"
                     /calculated_mol_wt=47859
     sig_peptide     1..22
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2278
     Site            10..30
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92504.2)"
     Region          42..121
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92504.2)"
     Region          132..446
                     /region_name="Zip"
                     /note="ZIP Zinc transporter; pfam02535"
                     /db_xref="CDD:396884"
     Site            138..158
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92504.2)"
     Site            169..189
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92504.2)"
     Site            214..234
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92504.2)"
     Region          242..310
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92504.2)"
     Site            275
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:22317921,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q92504.2)"
     Site            276
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:22317921,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q92504.2)"
     Site            381..401
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92504.2)"
     Site            417..436
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92504.2)"
     CDS             1..469
                     /gene="SLC39A7"
                     /gene_synonym="AGM9; D6S115E; D6S2244E; H2-KE4; HKE4; KE4;
                     RING5; ZIP7"
                     /coded_by="NM_001077516.2:77..1486"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS43453.1"
                     /db_xref="GeneID:7922"
                     /db_xref="HGNC:HGNC:4927"
                     /db_xref="MIM:601416"
ORIGIN      
        1 marglgaphw vavglltwat lgllvaglgg hddlhddlqe dfhghshrhs hedfhhghsh
       61 ahghghthes iwhghthdhd hghshedlhh ghshgyshes lyhrghghdh ehshggyges
      121 gapgikqdld avtlwayalg atvlisaapf fvlflipves nsprhrsllq illsfasggl
      181 lgdaflhlip halephshht leqpghghsh sgqgpilsvg lwvlsgivaf lvvekfvrhv
      241 kgghghshgh ghahshtrgs hghgrqerst kekqsseeee ketrgvqkrr ggstvpkdgp
      301 vrpqnaeeek rgldlrvsgy lnlaadlahn ftdglaigas frggrglgil ttmtvllhev
      361 phevgdfail vqsgcskkqa mrlqlltavg alagtacall teggavgsei aggagpgwvl
      421 pftaggfiyv atvsvlpell reasplqsll evlgllggvi mmvliahle
//
LOCUS       NP_001253967             269 aa            linear   PRI 27-DEC-2022
DEFINITION  centromere protein K isoform 1 [Homo sapiens].
ACCESSION   NP_001253967
VERSION     NP_001253967.1
DBSOURCE    REFSEQ: accession NM_001267038.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 269)
  AUTHORS   Li X, Han YR, Xuefeng X, Ma YX, Xing GS, Yang ZW, Zhang Z, Shi L
            and Wu XL.
  TITLE     Lentivirus-mediated short hairpin RNA interference of CENPK
            inhibits growth of colorectal cancer cells with overexpression of
            Cullin 4A
  JOURNAL   World J Gastroenterol 28 (37), 5420-5443 (2022)
   PUBMED   36312839
  REMARK    GeneRIF: Lentivirus-mediated short hairpin RNA interference of
            CENPK inhibits growth of colorectal cancer cells with
            overexpression of Cullin 4A.
REFERENCE   2  (residues 1 to 269)
  AUTHORS   Tian H, Wang F, Deng Y, Ying L, Fang W, Chen D, Miao C, Li H, Sun
            S, Ma Y, Cai H and Guo T.
  TITLE     Centromeric protein K (CENPK) promotes gastric cancer proliferation
            and migration via interacting with XRCC5
  JOURNAL   Gastric Cancer 25 (5), 879-895 (2022)
   PUBMED   35715658
  REMARK    GeneRIF: Centromeric protein K (CENPK) promotes gastric cancer
            proliferation and migration via interacting with XRCC5.
REFERENCE   3  (residues 1 to 269)
  AUTHORS   Lin X, Wang F, Chen J, Liu J, Lin YB, Li L, Chen CB and Xu Q.
  TITLE     N6-methyladenosine modification of CENPK mRNA by ZC3H13 promotes
            cervical cancer stemness and chemoresistance
  JOURNAL   Mil Med Res 9 (1), 19 (2022)
   PUBMED   35418160
  REMARK    GeneRIF: N(6)-methyladenosine modification of CENPK mRNA by ZC3H13
            promotes cervical cancer stemness and chemoresistance.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 269)
  AUTHORS   Li Q, Liang J, Zhang S, An N, Xu L and Ye C.
  TITLE     Overexpression of centromere protein K (CENPK) gene in
            Differentiated Thyroid Carcinoma promote cell Proliferation and
            Migration
  JOURNAL   Bioengineered 12 (1), 1299-1310 (2021)
   PUBMED   33904381
  REMARK    GeneRIF: Overexpression of centromere protein K (CENPK) gene in
            Differentiated Thyroid Carcinoma promote cell Proliferation and
            Migration.
REFERENCE   5  (residues 1 to 269)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 269)
  AUTHORS   Okada M, Cheeseman IM, Hori T, Okawa K, McLeod IX, Yates JR 3rd,
            Desai A and Fukagawa T.
  TITLE     The CENP-H-I complex is required for the efficient incorporation of
            newly synthesized CENP-A into centromeres
  JOURNAL   Nat Cell Biol 8 (5), 446-457 (2006)
   PUBMED   16622420
REFERENCE   7  (residues 1 to 269)
  AUTHORS   Foltz DR, Jansen LE, Black BE, Bailey AO, Yates JR 3rd and
            Cleveland DW.
  TITLE     The human CENP-A centromeric nucleosome-associated complex
  JOURNAL   Nat Cell Biol 8 (5), 458-469 (2006)
   PUBMED   16622419
REFERENCE   8  (residues 1 to 269)
  AUTHORS   Obuse C, Yang H, Nozaki N, Goto S, Okazaki T and Yoda K.
  TITLE     Proteomics analysis of the centromere complex from HeLa interphase
            cells: UV-damaged DNA binding protein 1 (DDB-1) is a component of
            the CEN-complex, while BMI-1 is transiently co-localized with the
            centromeric region in interphase
  JOURNAL   Genes Cells 9 (2), 105-120 (2004)
   PUBMED   15009096
REFERENCE   9  (residues 1 to 269)
  AUTHORS   Yamashita A, Ito M, Takamatsu N and Shiba T.
  TITLE     Characterization of Solt, a novel SoxLZ/Sox6 binding protein
            expressed in adult mouse testis
  JOURNAL   FEBS Lett 481 (2), 147-151 (2000)
   PUBMED   10996314
REFERENCE   10 (residues 1 to 269)
  AUTHORS   Taki T, Hayashi Y, Taniwaki M, Seto M, Ueda R, Hanada R, Suzukawa
            K, Yokota J and Morishita K.
  TITLE     Fusion of the MLL gene with two different genes, AF-6 and
            AF-5alpha, by a complex translocation involving chromosomes 5, 6, 8
            and 11 in infant leukemia
  JOURNAL   Oncogene 13 (10), 2121-2130 (1996)
   PUBMED   8950979
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG502832.1, BC005400.1 and BC008504.1.
            
            Summary: CENPK is a subunit of a CENPH (MIM 605607)-CENPI (MIM
            300065)-associated centromeric complex that targets CENPA (MIM
            117139) to centromeres and is required for proper kinetochore
            function and mitotic progression (Okada et al., 2006 [PubMed
            16622420]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF315941.1, SRR7346977.403996.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..269
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q12.3"
     Protein         1..269
                     /product="centromere protein K isoform 1"
                     /note="leucine zipper protein FKSG14; SoxLZ/Sox6-binding
                     protein Solt; protein AF-5alpha; interphase centromere
                     complex protein 37"
                     /calculated_mol_wt=31524
     Region          1..20
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BS16.1)"
     Region          10..269
                     /region_name="CENP-K"
                     /note="Centromere-associated protein K; pfam11802"
                     /db_xref="CDD:432085"
     Site            96..97
                     /site_type="other"
                     /note="Breakpoint for translocation to form
                     KMT2A/MLL1-CENPK oncogene; propagated from
                     UniProtKB/Swiss-Prot (Q9BS16.1)"
     CDS             1..269
                     /gene="CENPK"
                     /gene_synonym="AF5alpha; CENP-K; FKSG14; P33; Solt"
                     /coded_by="NM_001267038.2:179..988"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS3984.1"
                     /db_xref="GeneID:64105"
                     /db_xref="HGNC:HGNC:29479"
                     /db_xref="MIM:611502"
ORIGIN      
        1 mnqedldpds ttdvgdvtnt eeelirecee mwkdmeecqn klsligtetl tdsnaqlsll
       61 imqvkcltae lsqwqkktpe tipltedvli tlgkeefqkl rqdlemvlst keskneklke
      121 dlereqrwld eqqqimesln vlhselknkv etfsesrifn elktkmlnik eykekllstl
      181 gefledhfpl pdrsvkkkkk niqessvnli tlhemleili nrlfdvphdp yvkisdsfwp
      241 pyvelllrng ialrhpedpt rirleafhq
//
LOCUS       NP_001362567             874 aa            linear   PRI 27-DEC-2022
DEFINITION  leukocyte receptor cluster member 8 isoform 1 [Homo sapiens].
ACCESSION   NP_001362567 XP_005278306
VERSION     NP_001362567.1
DBSOURCE    REFSEQ: accession NM_001375638.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 874)
  AUTHORS   Dou Y, Kalmykova S, Pashkova M, Oghbaie M, Jiang H, Molloy KR,
            Chait BT, Rout MP, Fenyo D, Jensen TH, Altukhov I and LaCava J.
  TITLE     Affinity proteomic dissection of the human nuclear cap-binding
            complex interactome
  JOURNAL   Nucleic Acids Res 48 (18), 10456-10469 (2020)
   PUBMED   32960270
REFERENCE   2  (residues 1 to 874)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 874)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 874)
  AUTHORS   Farias TDJ, Augusto DG, de Almeida RC, Malheiros D and Petzl-Erler
            ML.
  TITLE     Screening the full leucocyte receptor complex genomic region
            revealed associations with pemphigus that might be explained by
            gene regulation
  JOURNAL   Immunology 156 (1), 86-93 (2019)
   PUBMED   30216441
  REMARK    GeneRIF: genetic polymorphism is associated with pemphigus
            foliaceus
REFERENCE   5  (residues 1 to 874)
  AUTHORS   Gebhardt A, Habjan M, Benda C, Meiler A, Haas DA, Hein MY, Mann A,
            Mann M, Habermann B and Pichlmair A.
  TITLE     mRNA export through an additional cap-binding complex consisting of
            NCBP1 and NCBP3
  JOURNAL   Nat Commun 6, 8192 (2015)
   PUBMED   26382858
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 874)
  AUTHORS   Denoeud F, Kapranov P, Ucla C, Frankish A, Castelo R, Drenkow J,
            Lagarde J, Alioto T, Manzano C, Chrast J, Dike S, Wyss C,
            Henrichsen CN, Holroyd N, Dickson MC, Taylor R, Hance Z, Foissac S,
            Myers RM, Rogers J, Hubbard T, Harrow J, Guigo R, Gingeras TR,
            Antonarakis SE and Reymond A.
  TITLE     Prominent use of distal 5' transcription start sites and discovery
            of a large number of additional exons in ENCODE regions
  JOURNAL   Genome Res 17 (6), 746-759 (2007)
   PUBMED   17567994
REFERENCE   7  (residues 1 to 874)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   8  (residues 1 to 874)
  AUTHORS   Baillat D, Hakimi MA, Naar AM, Shilatifard A, Cooch N and
            Shiekhattar R.
  TITLE     Integrator, a multiprotein mediator of small nuclear RNA
            processing, associates with the C-terminal repeat of RNA polymerase
            II
  JOURNAL   Cell 123 (2), 265-276 (2005)
   PUBMED   16239144
REFERENCE   9  (residues 1 to 874)
  AUTHORS   Wende H, Volz A and Ziegler A.
  TITLE     Extensive gene duplications and a large inversion characterize the
            human leukocyte receptor cluster
  JOURNAL   Immunogenetics 51 (8-9), 703-713 (2000)
   PUBMED   10941842
  REMARK    Erratum:[Immunogenetics 2001;52(3-4):308]
REFERENCE   10 (residues 1 to 874)
  AUTHORS   Abbott WM, Mellor A, Edwards Y and Feizi T.
  TITLE     Soluble bovine galactose-binding lectin. cDNA cloning reveals the
            complete amino acid sequence and an antigenic relationship with the
            major encephalitogenic domain of myelin basic protein
  JOURNAL   Biochem J 259 (1), 283-290 (1989)
   PUBMED   2470348
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC245884.3.
            On Oct 30, 2019 this sequence version replaced XP_005278306.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.3037352.1,
                                           SRR18074969.691917.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..874
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..874
                     /product="leukocyte receptor cluster member 8 isoform 1"
                     /note="leukocyte receptor cluster (LRC) member 8"
                     /calculated_mol_wt=95415
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q96PV6.3)"
     Region          24..66
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PV6.3)"
     Region          <109..>198
                     /region_name="PRK10263"
                     /note="DNA translocase FtsK; Provisional"
                     /db_xref="CDD:236669"
     Region          118..291
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PV6.3)"
     Region          328..506
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PV6.3)"
     Site            351
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96PV6.3)"
     Region          567..757
                     /region_name="CSN8_PSD8_EIF3K"
                     /note="CSN8/PSMD8/EIF3K family; cl24019"
                     /db_xref="CDD:451661"
     CDS             1..874
                     /gene="LENG8"
                     /gene_synonym="pp13842"
                     /coded_by="NM_001375638.1:168..2792"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS92685.1"
                     /db_xref="GeneID:114823"
                     /db_xref="HGNC:HGNC:15500"
                     /db_xref="MIM:616575"
ORIGIN      
        1 maanvgdqrs tdwssqysmv agagrengme tpmhenpewe karqalasis ksgaaggsak
       61 sssngpvasa qyvsqaeasa lqqqqyyqwy qqynyaypys yyypmsmyqs ygspsqygma
      121 gsygsatpqq psapqhqgtl nqppvpgmde smsyqappqq lpsaqppqps npphgahtln
      181 sgpqpgtapa tqhsqagpat gqaygphtyt epakpkkgqq lwnrmkpapg tgglkfniqk
      241 rpfavttqsf gsnaegqhsg fgpqpnpekv qnhsgssarg nlsgkpddwp qdmkeyverc
      301 ftaceseedk drtekllkev lqarlqdgsa ytidwsrepl pgltrepvae spkkkrweaa
      361 sslhpprgag satrgggaps qrgtpgagga grargnsftk fgnrnvfmkd nssssstdsr
      421 srsssrsptr hfrrsdshsd sdssysgnec hpvgrrnppp kgrggrgahm drgrgraqrg
      481 krhdlaptkr srkkmaalec edperelkkq kraarfqhgh srrlrleplv lqmsslessg
      541 adpdwqelqi vgtcpditkh ylrltcapdp stvrpvavlk kslcmvkchw kekqdyafac
      601 eqmksirqdl tvqgirteft vevyethari alekgdheef nqcqtqlksl yaenlpgnvg
      661 eftayrilyy iftknsgdit telayltrel kadpcvahal alrtawalgn yhrffrlych
      721 apcmsgylvd kfadrerkva lkamiktyvv pssllpllfp sfrlapplrp apgrrpppap
      781 npcpgpcfpi iflhsalpsp vplallvghl cvpghsspsp hcsqltasga sspphlcvss
      841 scsllpgpps sllalgflrt lrsllsqlva vlpp
//
LOCUS       NP_001309225             770 aa            linear   PRI 27-DEC-2022
DEFINITION  SID1 transmembrane family member 1 isoform 5 precursor [Homo
            sapiens].
ACCESSION   NP_001309225 XP_011511244
VERSION     NP_001309225.1
DBSOURCE    REFSEQ: accession NM_001322296.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 770)
  AUTHORS   Mendez-Acevedo KM, Valdes VJ, Asanov A and Vaca L.
  TITLE     A novel family of mammalian transmembrane proteins involved in
            cholesterol transport
  JOURNAL   Sci Rep 7 (1), 7450 (2017)
   PUBMED   28785058
  REMARK    GeneRIF: In silico analysis identified SIDT1 and SIDT2 sharing
            identity and conserved cholesterol binding (CRAC) domains with C.
            elegans ChUP-1. Further evidence indicate that SIDT1 and SIDT2 not
            only do not transport RNA, but they are involved in cholesterol
            transport. Single point mutations in the CRAC domains of both
            proteins prevent FRET between SIDT1, SIDT2 and dehydroergosterol
            and alter cholesterol transport.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 770)
  AUTHORS   Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA,
            Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J,
            Jugurnauth-Little S, Dadaev T, Neal DE, Hamdy FC, Donovan JL, Muir
            K, Giles GG, Severi G, Wiklund F, Gronberg H, Haiman CA, Schumacher
            F, Henderson BE, Le Marchand L, Lindstrom S, Kraft P, Hunter DJ,
            Gapstur S, Chanock SJ, Berndt SI, Albanes D, Andriole G, Schleutker
            J, Weischer M, Canzian F, Riboli E, Key TJ, Travis RC, Campa D,
            Ingles SA, John EM, Hayes RB, Pharoah PD, Pashayan N, Khaw KT,
            Stanford JL, Ostrander EA, Signorello LB, Thibodeau SN, Schaid D,
            Maier C, Vogel W, Kibel AS, Cybulski C, Lubinski J, Cannon-Albright
            L, Brenner H, Park JY, Kaneva R, Batra J, Spurdle AB, Clements JA,
            Teixeira MR, Dicks E, Lee A, Dunning AM, Baynes C, Conroy D,
            Maranian MJ, Ahmed S, Govindasami K, Guy M, Wilkinson RA, Sawyer
            EJ, Morgan A, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker
            CC, Van As NJ, Woodhouse CJ, Thompson A, Dudderidge T, Ogden C,
            Cooper CS, Lophatananon A, Cox A, Southey MC, Hopper JL, English
            DR, Aly M, Adolfsson J, Xu J, Zheng SL, Yeager M, Kaaks R, Diver
            WR, Gaudet MM, Stern MC, Corral R, Joshi AD, Shahabi A, Wahlfors T,
            Tammela TL, Auvinen A, Virtamo J, Klarskov P, Nordestgaard BG,
            Roder MA, Nielsen SF, Bojesen SE, Siddiq A, Fitzgerald LM, Kolb S,
            Kwon EM, Karyadi DM, Blot WJ, Zheng W, Cai Q, McDonnell SK,
            Rinckleb AE, Drake B, Colditz G, Wokolorczyk D, Stephenson RA,
            Teerlink C, Muller H, Rothenbacher D, Sellers TA, Lin HY, Slavov C,
            Mitev V, Lose F, Srinivasan S, Maia S, Paulo P, Lange E, Cooney KA,
            Antoniou AC, Vincent D, Bacot F, Tessier DC, Kote-Jarai Z and
            Easton DF.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391e3912 (2013)
   PUBMED   23535732
REFERENCE   3  (residues 1 to 770)
  AUTHORS   Wang X, Shaffer JR, Zeng Z, Begum F, Vieira AR, Noel J, Anjomshoaa
            I, Cuenco KT, Lee MK, Beck J, Boerwinkle E, Cornelis MC, Hu FB,
            Crosslin DR, Laurie CC, Nelson SC, Doheny KF, Pugh EW, Polk DE,
            Weyant RJ, Crout R, McNeil DW, Weeks DE, Feingold E and Marazita
            ML.
  TITLE     Genome-wide association scan of dental caries in the permanent
            dentition
  JOURNAL   BMC Oral Health 12, 57 (2012)
   PUBMED   23259602
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 770)
  AUTHORS   Elhassan MO, Christie J and Duxbury MS.
  TITLE     Homo sapiens systemic RNA interference-defective-1 transmembrane
            family member 1 (SIDT1) protein mediates contact-dependent small
            RNA transfer and microRNA-21-driven chemoresistance
  JOURNAL   J Biol Chem 287 (8), 5267-5277 (2012)
   PUBMED   22174421
  REMARK    GeneRIF: SIDT1, facilitates rapid, contact-dependent, bidirectional
            small RNA transfer between human cells, resulting in
            target-specific non-cell-autonomous RNAi
REFERENCE   5  (residues 1 to 770)
  AUTHORS   Pratt AJ, Rambo RP, Lau PW and MacRae IJ.
  TITLE     Preparation and characterization of the extracellular domain of
            human Sid-1
  JOURNAL   PLoS One 7 (4), e33607 (2012)
   PUBMED   22509261
  REMARK    GeneRIF: characterization of Sid-1 extracellular domain
REFERENCE   6  (residues 1 to 770)
  AUTHORS   Duxbury MS, Ashley SW and Whang EE.
  TITLE     RNA interference: a mammalian SID-1 homologue enhances siRNA uptake
            and gene silencing efficacy in human cells
  JOURNAL   Biochem Biophys Res Commun 331 (2), 459-463 (2005)
   PUBMED   15850781
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC112128.4, AC055740.17 and
            AI004220.1.
            On Apr 9, 2016 this sequence version replaced XP_011511244.1.
            
            Summary: The protein encoded by this gene belongs to SID1 family of
            transmembrane dsRNA-gated channels. Family members transport dsRNA
            into cells and are required for systemic RNA interference.
            [provided by RefSeq, May 2017].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2152719,
                              SAMEA2157437 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..770
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.2"
     Protein         1..770
                     /product="SID1 transmembrane family member 1 isoform 5
                     precursor"
                     /calculated_mol_wt=85185
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2127
     Region          187..749
                     /region_name="SID-1_RNA_chan"
                     /note="dsRNA-gated channel SID-1; pfam13965"
                     /db_xref="CDD:433611"
     CDS             1..770
                     /gene="SIDT1"
                     /gene_synonym="SID-1; SID1"
                     /coded_by="NM_001322296.2:468..2780"
                     /note="isoform 5 precursor is encoded by transcript
                     variant 5"
                     /db_xref="GeneID:54847"
                     /db_xref="HGNC:HGNC:25967"
                     /db_xref="MIM:606816"
ORIGIN      
        1 mrgclrlall calpwlllaa spghpakspr qppaprrdpf daargadfdh vysgvvnlst
       61 eniysfnyts qpdqvtavrv yvnsssenln ypvlvvvrqq kevlswqvpl lfqglyqrsy
      121 nyqevsrtlc pseatnetgp lqqlifvdva smaplgaqyk llvtklkhfq lrtnvafhft
      181 aspsqpqkkd fpgeqffvvf vikpedyacg gsffiqeken qtwnlqrkkn levtivpsik
      241 esvyvksslf svfiflsfyl gcllvgfvhy lrfqrksidg sfgsndgsgn mvashpiaas
      301 tpegsnygti desssspgrq msssdggppg qsdtdssvee sdfdtmpdie sdkniirtkm
      361 flylsdlsrk drrivskkyk iyfwniitia vfyalpviql vityqtvvnv tgnqdicyyn
      421 flcahplgvl safnnilsnl ghvllgflfl livlrrdilh rraleakdif aveygipkhf
      481 glfyamgial mmegvlsacy hvcpnysnfq fdtsfmymia glcmlklyqt rhpdinasay
      541 sayasfavvi mvtvlgvvfg kndvwfwvif saihvlasla lstqiyymgr fkidvsdtdl
      601 gifrraamvf ytdciqqcsr plymdrmvll vvgnlvnwsf alfgliyrpr dfasymlgif
      661 icnlllylaf yiimklrsse kvlpvplfci vatavmwaaa lyfffqnlss wegtpaesre
      721 knrecilldf fddhdiwhfl satalffsfl vlltldddld vvrrdqipvf
//
LOCUS       NP_001363095            1195 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger and BTB domain-containing protein 38 [Homo sapiens].
ACCESSION   NP_001363095
VERSION     NP_001363095.1
DBSOURCE    REFSEQ: accession NM_001376166.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1195)
  AUTHORS   Marchal C, Defossez PA and Miotto B.
  TITLE     Context-dependent CpG methylation directs cell-specific binding of
            transcription factor ZBTB38
  JOURNAL   Epigenetics 17 (13), 2122-2143 (2022)
   PUBMED   36000449
  REMARK    GeneRIF: Context-dependent CpG methylation directs cell-specific
            binding of transcription factor ZBTB38.
REFERENCE   2  (residues 1 to 1195)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 1195)
  AUTHORS   Jing J, Liu J, Wang Y, Zhang M, Yang L, Shi F, Liu P and She J.
  TITLE     The role of ZBTB38 in promoting migration and invasive growth of
            bladder cancer cells
  JOURNAL   Oncol Rep 41 (3), 1980-1990 (2019)
   PUBMED   30569128
  REMARK    GeneRIF: Study findings suggested that ZBTB38 promoted migration
            and invasive growth of bladder cancer cells through facilitation of
            the Wnt/betacatenin signaling pathway.
REFERENCE   4  (residues 1 to 1195)
  AUTHORS   Hudson NO, Whitby FG and Buck-Koehntop BA.
  TITLE     Structural insights into methylated DNA recognition by the
            C-terminal zinc fingers of the DNA reader protein ZBTB38
  JOURNAL   J Biol Chem 293 (51), 19835-19843 (2018)
   PUBMED   30355731
  REMARK    GeneRIF: the mechanism by which this ZF domain of ZBTB38
            selectively recognizes methylated CpG sites
REFERENCE   5  (residues 1 to 1195)
  AUTHORS   Chen J, Yan L, Wang H, Zhang Z, Yu D, Xing C, Li J, Li H, Li J and
            Cai Y.
  TITLE     ZBTB38, a novel regulator of autophagy initiation targeted by
            RB1CC1/FIP200 in spinal cord injury
  JOURNAL   Gene 678, 8-16 (2018)
   PUBMED   30075197
  REMARK    GeneRIF: Results show that ZBTB38 knockdown significantly inhibits
            autophagic expression and downregulates RB1CC1 expression in SHSY5Y
            cells. Its overexpression upregulates RB1CC1 expression and
            enhances autophagy in spinal cord injury mice model.
REFERENCE   6  (residues 1 to 1195)
  AUTHORS   Oikawa Y, Matsuda E, Nishii T, Ishida Y and Kawaichi M.
  TITLE     Down-regulation of CIBZ, a novel substrate of caspase-3, induces
            apoptosis
  JOURNAL   J Biol Chem 283 (21), 14242-14247 (2008)
   PUBMED   18375381
REFERENCE   7  (residues 1 to 1195)
  AUTHORS   Gudbjartsson DF, Walters GB, Thorleifsson G, Stefansson H,
            Halldorsson BV, Zusmanovich P, Sulem P, Thorlacius S, Gylfason A,
            Steinberg S, Helgadottir A, Ingason A, Steinthorsdottir V,
            Olafsdottir EJ, Olafsdottir GH, Jonsson T, Borch-Johnsen K, Hansen
            T, Andersen G, Jorgensen T, Pedersen O, Aben KK, Witjes JA,
            Swinkels DW, den Heijer M, Franke B, Verbeek AL, Becker DM, Yanek
            LR, Becker LC, Tryggvadottir L, Rafnar T, Gulcher J, Kiemeney LA,
            Kong A, Thorsteinsdottir U and Stefansson K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
  REMARK    GeneRIF: There was strongest association with SNPs in the ZBTB38
            gene and adult human height.
REFERENCE   8  (residues 1 to 1195)
  AUTHORS   Lettre G, Jackson AU, Gieger C, Schumacher FR, Berndt SI, Sanna S,
            Eyheramendy S, Voight BF, Butler JL, Guiducci C, Illig T, Hackett
            R, Heid IM, Jacobs KB, Lyssenko V, Uda M, Boehnke M, Chanock SJ,
            Groop LC, Hu FB, Isomaa B, Kraft P, Peltonen L, Salomaa V,
            Schlessinger D, Hunter DJ, Hayes RB, Abecasis GR, Wichmann HE,
            Mohlke KL and Hirschhorn JN.
  CONSRTM   Diabetes Genetics Initiative; FUSION; KORA; Prostate, Lung
            Colorectal and Ovarian Cancer Screening Trial; Nurses' Health
            Study; SardiNIA
  TITLE     Identification of ten loci associated with height highlights new
            biological pathways in human growth
  JOURNAL   Nat Genet 40 (5), 584-591 (2008)
   PUBMED   18391950
REFERENCE   9  (residues 1 to 1195)
  AUTHORS   Sanna S, Jackson AU, Nagaraja R, Willer CJ, Chen WM, Bonnycastle
            LL, Shen H, Timpson N, Lettre G, Usala G, Chines PS, Stringham HM,
            Scott LJ, Dei M, Lai S, Albai G, Crisponi L, Naitza S, Doheny KF,
            Pugh EW, Ben-Shlomo Y, Ebrahim S, Lawlor DA, Bergman RN, Watanabe
            RM, Uda M, Tuomilehto J, Coresh J, Hirschhorn JN, Shuldiner AR,
            Schlessinger D, Collins FS, Davey Smith G, Boerwinkle E, Cao A,
            Boehnke M, Abecasis GR and Mohlke KL.
  TITLE     Common variants in the GDF5-UQCC region are associated with
            variation in human height
  JOURNAL   Nat Genet 40 (2), 198-203 (2008)
   PUBMED   18193045
REFERENCE   10 (residues 1 to 1195)
  AUTHORS   Filion GJ, Zhenilo S, Salozhin S, Yamada D, Prokhortchouk E and
            Defossez PA.
  TITLE     A family of human zinc finger proteins that bind methylated DNA and
            repress transcription
  JOURNAL   Mol Cell Biol 26 (1), 169-181 (2006)
   PUBMED   16354688
  REMARK    GeneRIF: ZBTB38 binds methylated methylated CpGs in vitro and in
            vivo and represses transcrption.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010184.18.
            
            Summary: The protein encoded by this gene is a zinc finger
            transcriptional activator that binds methylated DNA. The encoded
            protein can form homodimers or heterodimers through the zinc finger
            domains. In mouse, inhibition of this protein has been associated
            with apoptosis in some cell types. [provided by RefSeq, Jun 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.40983.1,
                                           SRR14038195.248264.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1195
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q23"
     Protein         1..1195
                     /product="zinc finger and BTB domain-containing protein
                     38"
                     /note="protein phosphatase 1, regulatory subunit 171"
                     /calculated_mol_wt=134127
     Region          15..128
                     /region_name="BTB_POZ_ZBTB38_CIBZ"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in zinc finger and
                     BTB domain-containing protein 38 (ZBTB38); cd18223"
                     /db_xref="CDD:349532"
     Site            130
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8NAP3.2)"
     Region          264..334
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAP3.2)"
     Region          300..523
                     /region_name="Interaction with CBFA2T3.
                     /evidence=ECO:0000269|PubMed:23251453"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAP3.2)"
     Site            309
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q8NAP3.2)"
     Region          <332..402
                     /region_name="zf-C2H2_8"
                     /note="C2H2-type zinc ribbon; pfam15909"
                     /db_xref="CDD:435011"
     Region          344..364
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          373..392
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          462..482
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(467,469,471,473..474,477..478,481,495,497,501..502,
                     505..506,509,523,525,527,529..530,533..534)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          490..510
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          518..536
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          745..804
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAP3.2)"
     Region          871..891
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAP3.2)"
     Region          903..922
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAP3.2)"
     Region          1012..1032
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1017,1019,1021,1023..1024,1027..1028,1031,1045,1047,
                     1051..1052,1055..1056,1059,1073,1075,1077,1079..1080,
                     1083..1084,1087)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          1025..1048
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          1038..1060
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          1040..1060
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1068..1088
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1081..>1099
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          1096..1120
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..1195
                     /gene="ZBTB38"
                     /gene_synonym="CIBZ; PPP1R171; ZNF921"
                     /coded_by="NM_001376166.1:174..3761"
                     /db_xref="CCDS:CCDS43157.1"
                     /db_xref="GeneID:253461"
                     /db_xref="HGNC:HGNC:26636"
                     /db_xref="MIM:612218"
ORIGIN      
        1 mtvmslsrdl kddfhsdtvl silneqrirg ilcdvtiive dtkfkahsnv laasslyfkn
       61 ifwshticis shvlelddlk aevfteilny iysstvvvkr qetvtdlaaa gkklgisfle
      121 dltdrnfsns pgpyvfcite kgvvkeekne krheepaitn gpritnafsi ietensnnmf
      181 spldlrasfk kvsdsmrtas lclertdvch eaepvrtlae hsyavssvae ayrsqpvreh
      241 dgsspgntgk encealaakp ktcrkpktfs ipqdsdsate nippppvsnl evnqerspqp
      301 aavltrsksp nnegdvhfsr edenqssdvp gppaaevppl vyncsccska fdsstllsah
      361 mqlhkptqep lvckycnkqf ttlnrldrhe qicmrsshmp ipggnqrfle nyptigqngg
      421 sftgpeplls enrigefsst gstlpdtdhm vkfvngqmly scvvckrsyv tlsslrrhan
      481 vhswrrtypc hycnkvfala eyrtrheiwh tgerryqcif cletfmtyyi lknhqksfha
      541 idhrlsiskk tangglkpsv ypyklyrllp mkckrapyks yrnssyenar ensqmnesap
      601 gtyvvqnphs selptlnfqd tvntltnspa ipletsacqd iptsanvqna egtkwgeeal
      661 kmdldnnfys tevsvssten avssdlragd vpvlslsnss enaasvisys gsapsvivhs
      721 sqfssvimhs naiaamtssn hrafsdpavs qslkddskpe pdkvgrfasr pksikekkkt
      781 tshtrgeipe esnyvadpgg slskttniae etskietyia kpalpgtstn snvaplcqit
      841 vkigneaivk rhilgsklfy krgrrpkyqm qeeplpqgnd pepsgdsplg lcqsecmems
      901 evfddasdqd stdkpwrpyy nykpkkksrq lkkmrkvnwr kehgnrspsh kckypaeldc
      961 avgkapqdkp feeeetkemp klqcelcdgd kavgagnqgr phrhltsrpy acelcakqfq
     1021 spstlkmhmr chtgekpyqc ktcgrcfsvq gnlqkherih lglkefvcqy cnkaftlnet
     1081 lkiherihtg ekryhcqfcf qrflylstkr nheqrhireh ngkgyacfqc pkicktaaal
     1141 gmhqkkhlfk spsqqekigd vchensnple nqhfigsedn dqkdniqtgv envvl
//
LOCUS       NP_001362915             791 aa            linear   PRI 27-DEC-2022
DEFINITION  major facilitator superfamily domain-containing protein 6 isoform a
            [Homo sapiens].
ACCESSION   NP_001362915
VERSION     NP_001362915.1
DBSOURCE    REFSEQ: accession NM_001375986.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 791)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 791)
  AUTHORS   Docherty SJ, Kovas Y and Plomin R.
  TITLE     Gene-environment interaction in the etiology of mathematical
            ability using SNP sets
  JOURNAL   Behav Genet 41 (1), 141-154 (2011)
   PUBMED   20978832
  REMARK    GeneRIF: Observational study of gene-disease association, gene-gene
            interaction, and gene-environment interaction. (HuGE Navigator)
REFERENCE   3  (residues 1 to 791)
  AUTHORS   Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa
            I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F,
            Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson
            G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ and
            Monaco AP.
  CONSRTM   IMGSAC
  TITLE     High-density SNP association study and copy number variation
            analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4
            gene region in autism susceptibility
  JOURNAL   Mol Psychiatry 15 (9), 954-968 (2010)
   PUBMED   19401682
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 791)
  AUTHORS   Shimizu T, Tashiro-Yamaji J, Hayashi M, Inoue Y, Ibata M, Kubota T,
            Tanigawa N and Yoshida R.
  TITLE     HLA-B62 as a possible ligand for the human homologue of mouse
            macrophage MHC receptor 2 (MMR2) on monocytes
  JOURNAL   Gene 454 (1-2), 31-38 (2010)
   PUBMED   20123006
REFERENCE   5  (residues 1 to 791)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092178.4 and AC093388.4.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). Variants 1-4 all
            encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.68325.1,
                                           SRR14038194.1759016.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465405 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..791
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     Protein         1..791
                     /product="major facilitator superfamily domain-containing
                     protein 6 isoform a"
                     /note="major facilitator superfamily domain-containing
                     protein 6; macrophage MHC receptor 2; macrophage MHC class
                     I receptor 2 homolog"
                     /calculated_mol_wt=87957
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            10
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Region          22..47
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Region          70..622
                     /region_name="MFS_MFSD6"
                     /note="Major facilitator superfamily domain-containing
                     protein 6; cd17335"
                     /db_xref="CDD:340893"
     Site            73..93
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            order(78..79,82..83,86,118,302..303,305..307,310,328,
                     331..332,335,454,457..458,461..463,466,493,497,546..547,
                     551,555,576,579..580,583..584,587)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:340893"
     Site            105..125
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            132..152
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            286..306
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            335..355
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            369..389
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Region          407..427
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            450..470
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            479..499
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            507..527
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            544..564
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            579..599
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Site            605..625
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Region          662..687
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     Region          723..791
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSS7.2)"
     CDS             1..791
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2"
                     /coded_by="NM_001375986.1:378..2753"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2306.1"
                     /db_xref="GeneID:54842"
                     /db_xref="HGNC:HGNC:24711"
                     /db_xref="MIM:613476"
ORIGIN      
        1 maddkvailt ddeeeqkrky vladpfngis repeppsnet psstetsaip eeeidwiekh
       61 cvkinndlli skvfyfffys aygslypllp vyykqlgmsp sqsgllvgir yfiefcsapf
      121 wgvvadrfkk gkivllfsll cwvlfnlgig fvkpatlrcv pkirptthpt nashqltilp
      181 tnssftsflt ispkmrekrn lletrlnvsd tvtlptapnm nseptlqpqt geitnrmmdl
      241 tlnsstatpv spgsvtkett tvivtttksl psdqvmlvyd qqeveaiflv ilvvviigef
      301 fsassvtivd tvtlqylgkh rdryglqrmw gslgwglaml svgigidyth ievlidgkgc
      361 kppeyrnyqi vfivfgvlmt malivatqfr frynhfkndd skgkeveipq vernnstess
      421 eetptttshs qafnfwdlik llcsvqygsv lfvawfmgfg ygfvftflyw hledlngttt
      481 lfgvcsvlsh vseltayffs hklielighi rvlyiglacn taryiyisyl enawtvlpme
      541 vlqgvthaai waacisylsa avppelrtsa qgilqglhlg lgrgcgamig gvlvnyfgaa
      601 atfrgigmac lvilllfali qwlavpdeee dktmlaerip vpsspvpiat idlvqqqted
      661 vmprieprlp pkktkhqeeq edvnkpawgv ssspwvtfvy alyqikemmq ltrdnrasei
      721 qplqgtnenr enspagraqp vpcethsdps rnqpspdaaa sqtqtspahp svdpcteese
      781 eqqaqlaagg h
//
LOCUS       NP_543010                209 aa            linear   PRI 28-DEC-2022
DEFINITION  D-aminoacyl-tRNA deacylase 1 isoform 2 [Homo sapiens].
ACCESSION   NP_543010
VERSION     NP_543010.3
DBSOURCE    REFSEQ: accession NM_080820.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 209)
  AUTHORS   Poudel S, Yao J, Kemp MG and Leffak M.
  TITLE     Interaction between DUE-B and Treslin is required to load Cdc45 on
            chromatin in human cells
  JOURNAL   J Biol Chem 293 (37), 14497-14506 (2018)
   PUBMED   30037903
  REMARK    GeneRIF: results suggest that DUE-B acts to identify origins by MCM
            binding and serves as a node for replication protein recruitment
            and Cdc45 transfer to the prereplication complex
REFERENCE   2  (residues 1 to 209)
  AUTHORS   Gao Y, Yao J, Poudel S, Romer E, Abu-Niaaj L and Leffak M.
  TITLE     Protein phosphatase 2A and Cdc7 kinase regulate the DNA unwinding
            element-binding protein in replication initiation
  JOURNAL   J Biol Chem 289 (52), 35987-36000 (2014)
   PUBMED   25258324
  REMARK    GeneRIF: The state of DUE-B phosphorylation is maintained by the
            equilibrium between Cdc7-dependent phosphorylation and
            PP2A-dependent dephosphorylation.
REFERENCE   3  (residues 1 to 209)
  AUTHORS   Gosenca,D., Kellert,B., Metzgeroth,G., Haferlach,C., Fabarius,A.,
            Schwaab,J., Kneba,M., Scheid,C., Topelt,K., Erben,P., Haferlach,T.,
            Cross,N.C., Hofmann,W.K., Seifarth,W. and Reiter,A.
  TITLE     Identification and functional characterization of
            imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in
            eosinophilia-associated myeloid/lymphoid neoplasms
  JOURNAL   Genes Chromosomes Cancer 53 (5), 411-421 (2014)
   PUBMED   24772479
  REMARK    GeneRIF: LDI-PCR revealed a fusion between DTD1 exon 4 and PDGFRB
            exon 12 in the cases with t(5;14)(q33;q32) and t(5;20)(q33;p11).
REFERENCE   4  (residues 1 to 209)
  AUTHORS   Pasaje CF, Bae JS, Park BL, Jang AS, Uh ST, Kim MK, Koh IS, Kim JH,
            Park TJ, Lee JS, Kim Y, Park CS and Shin HD.
  TITLE     Association analysis of DTD1 gene variations with
            aspirin-intolerance in asthmatics
  JOURNAL   Int J Mol Med 28 (1), 129-137 (2011)
   PUBMED   21479357
  REMARK    GeneRIF: DTD1 variants do not affect the abnormalities of the upper
            airways in aspirin-intolerant asthma patients
REFERENCE   5  (residues 1 to 209)
  AUTHORS   Chowdhury A, Liu G, Kemp M, Chen X, Katrangi N, Myers S, Ghosh M,
            Yao J, Gao Y, Bubulya P and Leffak M.
  TITLE     The DNA unwinding element binding protein DUE-B interacts with
            Cdc45 in preinitiation complex formation
  JOURNAL   Mol Cell Biol 30 (6), 1495-1507 (2010)
   PUBMED   20065034
  REMARK    GeneRIF: The coordinated binding of DUE-B and Cdc45 to origins and
            the physical interactions of DUE-B, Cdc45, and TopBP1 suggest that
            complexes of these proteins are necessary for replication
            initiation.
REFERENCE   6  (residues 1 to 209)
  AUTHORS   Kemp M, Bae B, Yu JP, Ghosh M, Leffak M and Nair SK.
  TITLE     Structure and function of the c-myc DNA-unwinding element-binding
            protein DUE-B
  JOURNAL   J Biol Chem 282 (14), 10441-10448 (2007)
   PUBMED   17264083
REFERENCE   7  (residues 1 to 209)
  AUTHORS   Sibani S, Price GB and Zannis-Hadjopoulos M.
  TITLE     Ku80 binds to human replication origins prior to the assembly of
            the ORC complex
  JOURNAL   Biochemistry 44 (21), 7885-7896 (2005)
   PUBMED   15910003
REFERENCE   8  (residues 1 to 209)
  AUTHORS   Casper JM, Kemp MG, Ghosh M, Randall GM, Vaillant A and Leffak M.
  TITLE     The c-myc DNA-unwinding element-binding protein modulates the
            assembly of DNA replication complexes in vitro
  JOURNAL   J Biol Chem 280 (13), 13071-13083 (2005)
   PUBMED   15653697
  REMARK    GeneRIF: DUE-B, a c-myc DNA-unwinding element-binding protein,
            plays an important role in replication in vivo.
REFERENCE   9  (residues 1 to 209)
  AUTHORS   Meng X, Chen J, Yang Q, Wang S, Chao Y, Ying K, Xie Y and Mao Y.
  TITLE     Cloning and identification of a novel cDNA which may be associated
            with FKBP25
  JOURNAL   Biochem Genet 40 (9-10), 303-310 (2002)
   PUBMED   12392168
  REMARK    GeneRIF: cloning and identification of novel cDNA which may be
            associated with FKBP25
REFERENCE   10 (residues 1 to 209)
  AUTHORS   Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and
            Morton CC.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC100924.2, AW022517.1 and
            AL121780.11.
            On May 16, 2003 this sequence version replaced NP_543010.2.
            
            Summary: The protein encoded by this gene is similar in sequence to
            histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into
            D-tyrosine and free tRNA(Tyr). The encoded protein binds the DNA
            unwinding element and plays a role in the initiation of DNA
            replication. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Dec
            2015].
            
            Transcript Variant: This variant (2) has a different 3' structure,
            resulting in a novel 3' coding region and 3' UTR, compared to
            variant 1. The encoded isoform (2) has a distinct C-terminus, and
            is shorter, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.143857.1,
                                           ERR1172418.2167.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000377452.4/
                                                  ENSP00000366672.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..209
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.23"
     Protein         1..209
                     /product="D-aminoacyl-tRNA deacylase 1 isoform 2"
                     /EC_number="3.1.1.96"
                     /note="histidyl-tRNA synthetase 2; D-tyrosyl-tRNA(Tyr)
                     deacylase 1; histidyl-tRNA synthase-related;
                     D-tyrosyl-tRNA deacylase 1 homolog; gly-tRNA(Ala)
                     deacylase; DNA-unwinding element-binding protein B"
                     /calculated_mol_wt=23292
     Region          1..147
                     /region_name="Dtyr_deacylase"
                     /note="D-Tyrosyl-tRNAtyr deacylases; a class of
                     tRNA-dependent hydrolases which are capable of hydrolyzing
                     the ester bond of D-Tyrosyl-tRNA reducing the level of
                     cellular D-Tyrosine while recycling the peptidyl-tRNA;
                     found in bacteria and in eukaryotes but not...; cd00563"
                     /db_xref="CDD:238316"
     Site            order(7,78..82,93,143)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238316"
     Site            order(44,47..49,51..54,78..79,81..82,84..86,87..91,93,
                     129..146)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238316"
     Site            order(48,53,87,90)
                     /site_type="other"
                     /note="putative tRNAtyr binding site [nucleotide binding]"
                     /db_xref="CDD:238316"
     Region          139..140
                     /region_name="Gly-cisPro motif, important for rejection of
                     L-amino acids. /evidence=ECO:0000250|UniProtKB:Q8IIS0"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEA8.2)"
     Region          142..209
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TEA8.2)"
     Site            197
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TEA8.2)"
     Site            204
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9DD18; propagated from
                     UniProtKB/Swiss-Prot (Q8TEA8.2)"
     Site            205
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q8TEA8.2)"
     CDS             1..209
                     /gene="DTD1"
                     /gene_synonym="C20orf88; DTD; DUE-B; DUEB; HARS2; pqn-68"
                     /coded_by="NM_080820.6:20..649"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS13138.1"
                     /db_xref="GeneID:92675"
                     /db_xref="HGNC:HGNC:16219"
                     /db_xref="MIM:610996"
ORIGIN      
        1 mkavvqrvtr asvtvggeqi saigrgicvl lgisledtqk elehmvrkil nlrvfedesg
       61 khwsksvmdk qyeilcvsqf tlqcvlkgnk pdfhlampte qaegfynsfl eqlrktyrpe
      121 likdgkfgay mqvhiqndgp vtielespap gtatsdpkql sklekqqqrk ektrakgpse
      181 sskerntprk edrsassgae gdvsserep
//
LOCUS       NP_443081                185 aa            linear   PRI 28-DEC-2022
DEFINITION  coiled-coil domain-containing protein 32 isoform 2 [Homo sapiens].
ACCESSION   NP_443081 XP_001129277
VERSION     NP_443081.1
DBSOURCE    REFSEQ: accession NM_052849.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 185)
  AUTHORS   Wainberg M, Kamber RA, Balsubramani A, Meyers RM, Sinnott-Armstrong
            N, Hornburg D, Jiang L, Chan J, Jian R, Gu M, Shcherbina A,
            Dubreuil MM, Spees K, Meuleman W, Snyder MP, Bassik MC and Kundaje
            A.
  TITLE     A genome-wide atlas of co-essential modules assigns function to
            uncharacterized genes
  JOURNAL   Nat Genet 53 (5), 638-649 (2021)
   PUBMED   33859415
REFERENCE   2  (residues 1 to 185)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 185)
  AUTHORS   Harel T, Griffin JN, Arbogast T, Monroe TO, Palombo F, Martinelli
            M, Seri M, Pippucci T, Elpeleg O and Katsanis N.
  TITLE     Loss of function mutations in CCDC32 cause a congenital syndrome
            characterized by craniofacial, cardiac and neurodevelopmental
            anomalies
  JOURNAL   Hum Mol Genet 29 (9), 1489-1497 (2020)
   PUBMED   32307552
  REMARK    GeneRIF: Loss of function mutations in CCDC32 cause a congenital
            syndrome characterized by craniofacial, cardiac and
            neurodevelopmental anomalies.
REFERENCE   4  (residues 1 to 185)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 185)
  AUTHORS   Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
            Safari A, Liu D and Songyang Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   6  (residues 1 to 185)
  AUTHORS   Adams MD, Dubnick M, Kerlavage AR, Moreno R, Kelley JM, Utterback
            TR, Nagle JW, Fields C and Venter JC.
  TITLE     Sequence identification of 2,375 human brain genes
  JOURNAL   Nature 355 (6361), 632-634 (1992)
   PUBMED   1538749
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091045.3.
            On Sep 20, 2006 this sequence version replaced XP_001129277.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX404085.2, BX394057.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..185
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     Protein         1..185
                     /product="coiled-coil domain-containing protein 32 isoform
                     2"
                     /note="uncharacterized protein C15orf57; coiled-coil
                     domain-containing protein 32"
                     /calculated_mol_wt=20525
     Region          17..166
                     /region_name="CCDC32"
                     /note="Coiled-coil domain containing 32; pfam14989"
                     /db_xref="CDD:434370"
     Region          159..185
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BV29.2)"
     CDS             1..185
                     /gene="CCDC32"
                     /gene_synonym="C15orf57; CFNDS"
                     /coded_by="NM_052849.5:265..822"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS10060.1"
                     /db_xref="GeneID:90416"
                     /db_xref="HGNC:HGNC:28295"
                     /db_xref="MIM:618941"
ORIGIN      
        1 mkmfesadst atrsgqdlwa eicsclpnpe qedgannafs dsfvdscpeg egqrevadfa
       61 vqpavkpwap lqdsevylas lekklrrikg lnqevtskdm lrtlaqakke cwdrflqekl
      121 aseffvdgld sdestlehfk rwlqpdkvav steevqylip pesqvekpva edepaagdkp
      181 aaaeq
//
LOCUS       NP_001006114             121 aa            linear   PRI 29-DEC-2022
DEFINITION  endoribonuclease YbeY isoform 2 [Homo sapiens].
ACCESSION   NP_001006114
VERSION     NP_001006114.1
DBSOURCE    REFSEQ: accession NM_001006114.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 121)
  AUTHORS   D'Souza AR, Van Haute L, Powell CA, Mutti CD, Palenikova P,
            Rebelo-Guiomar P, Rorbach J and Minczuk M.
  TITLE     YbeY is required for ribosome small subunit assembly and tRNA
            processing in human mitochondria
  JOURNAL   Nucleic Acids Res 49 (10), 5798-5812 (2021)
   PUBMED   34037799
  REMARK    GeneRIF: YbeY is required for ribosome small subunit assembly and
            tRNA processing in human mitochondria.
REFERENCE   2  (residues 1 to 121)
  AUTHORS   Liao Z, Schelcher C and Smirnov A.
  TITLE     YbeY, eminence grise of ribosome biogenesis
  JOURNAL   Biochem Soc Trans 49 (2), 727-745 (2021)
   PUBMED   33929506
  REMARK    GeneRIF: YbeY, eminence grise of ribosome biogenesis.
            Review article
REFERENCE   3  (residues 1 to 121)
  AUTHORS   Summer S, Smirnova A, Gabriele A, Toth U, Fasemore AM, Forstner KU,
            Kuhn L, Chicher J, Hammann P, Mitulovic G, Entelis N, Tarassov I,
            Rossmanith W and Smirnov A.
  TITLE     YBEY is an essential biogenesis factor for mitochondrial ribosomes
  JOURNAL   Nucleic Acids Res 48 (17), 9762-9786 (2020)
   PUBMED   32182356
  REMARK    GeneRIF: YBEY is an essential biogenesis factor for mitochondrial
            ribosomes.
REFERENCE   4  (residues 1 to 121)
  AUTHORS   Ghosal A, Kohrer C, Babu VMP, Yamanaka K, Davies BW, Jacob AI,
            Ferullo DJ, Gruber CC, Vercruysse M and Walker GC.
  TITLE     C21orf57 is a human homologue of bacterial YbeY proteins
  JOURNAL   Biochem Biophys Res Commun 484 (3), 612-617 (2017)
   PUBMED   28153719
  REMARK    GeneRIF: This observation suggests that the function of HuYbeY in
            human cells is likely regulated through specific interactions with
            partner proteins similarly to the way YbeY is regulated in
            bacteria.
REFERENCE   5  (residues 1 to 121)
  AUTHORS   Uhlen M, Oksvold P, Algenas C, Hamsten C, Fagerberg L, Klevebring
            D, Lundberg E, Odeberg J, Ponten F, Kondo T and Sivertsson A.
  TITLE     Antibody-based protein profiling of the human chromosome 21
  JOURNAL   Mol Cell Proteomics 11 (3), M111.013458 (2012)
   PUBMED   22042635
REFERENCE   6  (residues 1 to 121)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 121)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   8  (residues 1 to 121)
  AUTHORS   Reymond A, Friedli M, Henrichsen CN, Chapot F, Deutsch S, Ucla C,
            Rossier C, Lyle R, Guipponi M and Antonarakis SE.
  TITLE     From PREDs and open reading frames to cDNA isolation: revisiting
            the human chromosome 21 transcription map
  JOURNAL   Genomics 78 (1-2), 46-54 (2001)
   PUBMED   11707072
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC384882.1, AK294975.1 and
            AP000471.2.
            
            Summary: This gene encodes a highly conserved metalloprotein. A
            similar protein in bacteria acts as an endoribonuclease, and is
            thought to function in ribosomal RNA maturation and ribosome
            assembly. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Sep 2015].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks
            two 3' exons, and its 3' terminal exon extends past a splice site
            that is used in variant 1, resulting in a novel 3' coding region
            and 3' UTR, compared to variant 1. The encoded isoform (2) is
            shorter and has a distinct C-terminus, compared to isoform 1.
            Variants 2 and 7 encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK294975.1, BC022828.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..121
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..121
                     /product="endoribonuclease YbeY isoform 2"
                     /note="putative metalloprotease C21orf57; rRNA maturation
                     factor homolog; putative ribonuclease; endoribonuclease
                     YbeY; ybeY metallopeptidase (putative)"
                     /calculated_mol_wt=13988
     Region          35..>113
                     /region_name="UPF0054"
                     /note="Uncharacterized protein family UPF0054; cl00402"
                     /db_xref="CDD:444889"
     CDS             1..121
                     /gene="YBEY"
                     /gene_synonym="C21orf57"
                     /coded_by="NM_001006114.3:119..484"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:54059"
                     /db_xref="HGNC:HGNC:1299"
                     /db_xref="MIM:617461"
ORIGIN      
        1 mslvirnlqr vipirraplr skieivrril gvqkfdlgii cvdnkniqhi nriyrdrnvp
       61 tdvlsfpfhe hlkagefpqp dfpddynlgd iflgveyifh qckenedynd vltvsgdaei
      121 i
//
LOCUS       NP_689666                288 aa            linear   PRI 30-DEC-2022
DEFINITION  transmembrane and coiled-coil domain-containing protein 5A isoform
            1 [Homo sapiens].
ACCESSION   NP_689666
VERSION     NP_689666.2
DBSOURCE    REFSEQ: accession NM_152453.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 288)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 288)
  AUTHORS   Kaneko T, Minohara T, Shima S, Yoshida K, Fukuda A, Iwamori N, Inai
            T and Iida H.
  TITLE     A membrane protein, TMCO5A, has a close relationship with manchette
            microtubules in rat spermatids during spermiogenesis
  JOURNAL   Mol Reprod Dev 86 (3), 330-341 (2019)
   PUBMED   30632224
REFERENCE   3  (residues 1 to 288)
  AUTHORS   Bauerschlag DO, Ammerpohl O, Brautigam K, Schem C, Lin Q, Weigel
            MT, Hilpert F, Arnold N, Maass N, Meinhold-Heerlein I and Wagner W.
  TITLE     Progression-free survival in ovarian cancer is reflected in
            epigenetic DNA methylation profiles
  JOURNAL   Oncology 80 (1-2), 12-20 (2011)
   PUBMED   21577013
  REMARK    GeneRIF: Longer survival was associated with hypomethylation at
            specific CpG sites (e.g. GREB1, TGIF and TOB1) and hypermethylation
            in other genes (e.g. TMCO5, PTPRN and GUCY2C).
REFERENCE   4  (residues 1 to 288)
  AUTHORS   Lanktree MB, Hegele RA, Yusuf S and Anand SS.
  TITLE     Multi-ethnic genetic association study of carotid intima-media
            thickness using a targeted cardiovascular SNP microarray
  JOURNAL   Stroke 40 (10), 3173-3179 (2009)
   PUBMED   19679847
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI561792.1, BI826726.1 and BC029221.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 27, 2003 this sequence version replaced NP_689666.1.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189661.26886.1,
                                           SRR5189667.174726.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000319669.5/ ENSP00000327234.4
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..288
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q14"
     Protein         1..288
                     /product="transmembrane and coiled-coil domain-containing
                     protein 5A isoform 1"
                     /note="transmembrane and coiled-coil domains 5;
                     transmembrane and coiled-coil domain-containing protein
                     5A; testicular tissue protein Li 205"
                     /calculated_mol_wt=34043
     Region          13..287
                     /region_name="TMCO5"
                     /note="TMCO5 family; pfam14992"
                     /db_xref="CDD:434373"
     Site            224..244
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6Q1.2)"
     CDS             1..288
                     /gene="TMCO5A"
                     /gene_synonym="TMCO5"
                     /coded_by="NM_152453.4:158..1024"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS10046.1"
                     /db_xref="GeneID:145942"
                     /db_xref="HGNC:HGNC:28558"
ORIGIN      
        1 meisrlaqsk rniislnmdl erdtqridea nqklllkiqe redkiqrles eiiqtrglve
       61 deewekenrt tmereralqe leeetarler knktlvhsit elqqkltrks qkitnceqss
      121 pdgaleetkv klqqleasya cqekellkvm keyafvtqlc edqalyikky qetlkkieee
      181 lealflerev sklvsmnpve kehtsqnneg tptqktarlf skkifcclff itlffirlls
      241 ymffhvrfin pdllvnvlpk vlgrstlwkl rcfffpsltl etedmlph
//
LOCUS       NP_001171591             451 aa            linear   PRI 30-DEC-2022
DEFINITION  abl interactor 1 isoform g [Homo sapiens].
ACCESSION   NP_001171591
VERSION     NP_001171591.1
DBSOURCE    REFSEQ: accession NM_001178120.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 451)
  AUTHORS   Regua A, Papp C, Grageda A, Porter BA, Caza T, Bichindaritz I,
            Krendel M, Sivapiragasam A, Bratslavsky G, Kuznetsov VA and Kotula
            L.
  TITLE     ABI1-based expression signature predicts breast cancer metastasis
            and survival
  JOURNAL   Mol Oncol 16 (14), 2632-2657 (2022)
   PUBMED   34967509
  REMARK    GeneRIF: ABI1-based expression signature predicts breast cancer
            metastasis and survival.
REFERENCE   2  (residues 1 to 451)
  AUTHORS   Wang Y, Liao G, Wang R and Tang DD.
  TITLE     Acetylation of Abelson interactor 1 at K416 regulates actin
            cytoskeleton and smooth muscle contraction
  JOURNAL   FASEB J 35 (9), e21811 (2021)
   PUBMED   34369620
  REMARK    GeneRIF: Acetylation of Abelson interactor 1 at K416 regulates
            actin cytoskeleton and smooth muscle contraction.
REFERENCE   3  (residues 1 to 451)
  AUTHORS   Zhang Y, Zhong Z, Li M, Chen J, Lin T, Sun J, Wang D, Mu Q, Su H,
            Wu N, Liu A, Yu Y, Zhang M, Liu Y, Guo J and Yu W.
  TITLE     The roles and prognostic significance of ABI1-TSV-11 expression in
            patients with left-sided colorectal cancer
  JOURNAL   Sci Rep 11 (1), 10734 (2021)
   PUBMED   34031495
  REMARK    GeneRIF: The roles and prognostic significance of ABI1-TSV-11
            expression in patients with left-sided colorectal cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 451)
  AUTHORS   Li Y, Guo X, Xue G, Wang H, Wang Y, Wang W, Yang S, Ni Q, Chen J,
            Lv L, Zhao Y, Ye M and Zhang L.
  TITLE     RNA Splicing of the Abi1 Gene by MBNL1 contributes to
            macrophage-like phenotype modulation of vascular smooth muscle cell
            during atherogenesis
  JOURNAL   Cell Prolif 54 (5), e13023 (2021)
   PUBMED   33759281
  REMARK    GeneRIF: RNA Splicing of the Abi1 Gene by MBNL1 contributes to
            macrophage-like phenotype modulation of vascular smooth muscle cell
            during atherogenesis.
REFERENCE   5  (residues 1 to 451)
  AUTHORS   Fan PD and Goff SP.
  TITLE     Abl interactor 1 binds to sos and inhibits epidermal growth factor-
            and v-Abl-induced activation of extracellular signal-regulated
            kinases
  JOURNAL   Mol Cell Biol 20 (20), 7591-7601 (2000)
   PUBMED   11003655
REFERENCE   6  (residues 1 to 451)
  AUTHORS   Courtney KD, Grove M, Vandongen H, Vandongen A, LaMantia AS and
            Pendergast AM.
  TITLE     Localization and phosphorylation of Abl-interactor proteins, Abi-1
            and Abi-2, in the developing nervous system
  JOURNAL   Mol Cell Neurosci 16 (3), 244-257 (2000)
   PUBMED   10995551
REFERENCE   7  (residues 1 to 451)
  AUTHORS   Scita G, Nordstrom J, Carbone R, Tenca P, Giardina G, Gutkind S,
            Bjarnegard M, Betsholtz C and Di Fiore PP.
  TITLE     EPS8 and E3B1 transduce signals from Ras to Rac
  JOURNAL   Nature 401 (6750), 290-293 (1999)
   PUBMED   10499589
REFERENCE   8  (residues 1 to 451)
  AUTHORS   Taki T, Shibuya N, Taniwaki M, Hanada R, Morishita K, Bessho F,
            Yanagisawa M and Hayashi Y.
  TITLE     ABI-1, a human homolog to mouse Abl-interactor 1, fuses the MLL
            gene in acute myeloid leukemia with t(10;11)(p11.2;q23)
  JOURNAL   Blood 92 (4), 1125-1130 (1998)
   PUBMED   9694699
REFERENCE   9  (residues 1 to 451)
  AUTHORS   Ziemnicka-Kotula D, Xu J, Gu H, Potempska A, Kim KS, Jenkins EC,
            Trenkner E and Kotula L.
  TITLE     Identification of a candidate human spectrin Src homology 3
            domain-binding protein suggests a general mechanism of association
            of tyrosine kinases with the spectrin-based membrane skeleton
  JOURNAL   J Biol Chem 273 (22), 13681-13692 (1998)
   PUBMED   9593709
REFERENCE   10 (residues 1 to 451)
  AUTHORS   Biesova Z, Piccoli C and Wong WT.
  TITLE     Isolation and characterization of e3B1, an eps8 binding protein
            that regulates cell growth
  JOURNAL   Oncogene 14 (2), 233-241 (1997)
   PUBMED   9010225
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB040151.1, AF001628.2 and
            AL390961.17.
            
            Summary: This gene encodes a member of the Abelson-interactor
            family of adaptor proteins. These proteins facilitate signal
            transduction as components of several multiprotein complexes, and
            regulate actin polymerization and cytoskeletal remodeling through
            interactions with Abelson tyrosine kinases. The encoded protein
            plays a role in macropinocytosis as a component of the WAVE2
            complex, and also forms a complex with EPS8 and SOS1 that mediates
            signal transduction from Ras to Rac. This gene may play a role in
            the progression of several malignancies including melanoma, colon
            cancer and breast cancer, and a t(10;11) chromosomal translocation
            involving this gene and the MLL gene has been associated with acute
            myeloid leukemia. Alternatively spliced transcript variants
            encoding multiple isoforms have been observed for this gene, and a
            pseudogene of this gene is located on the long arm of chromosome
            14. [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (7) lacks two alternate in-frame
            coding exons and uses a different splice site, compared to variant
            1. The resulting protein (isoform g) has the same N- and C-termini
            but is shorter when it is compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB209268.1, AF001628.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..451
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.1"
     Protein         1..451
                     /product="abl interactor 1 isoform g"
                     /note="nap1 binding protein; interactor protein AblBP4;
                     Abl-interactor protein 1 long; Abelson interactor 1;
                     abl-binding protein 4; eps8 SH3 domain-binding protein;
                     spectrin SH3 domain-binding protein 1"
                     /calculated_mol_wt=49174
     Region          93..156
                     /region_name="Abi_HHR"
                     /note="Abl-interactor HHR; pfam07815"
                     /db_xref="CDD:429677"
     Region          393..451
                     /region_name="SH3_Abi1"
                     /note="Src homology 3 domain of Abl Interactor 1; cd11971"
                     /db_xref="CDD:212904"
     Site            order(398,400,403,407,425..426,439,441..442)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212904"
     CDS             1..451
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /coded_by="NM_001178120.2:96..1451"
                     /note="isoform g is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS53499.1"
                     /db_xref="GeneID:10006"
                     /db_xref="HGNC:HGNC:11320"
                     /db_xref="MIM:603050"
ORIGIN      
        1 maelqmllee eipsgkrali esyqnltrva dycennyiqa tdkrkaleet kayttqslas
       61 vayqinalan nvlqlldiqa sqlrrmessi nhisqtvdih kekvarreig ilttnkntsr
      121 thkiiapanm erpvryirkp idytvlddvg hgvkwlkakh gnnqpartgt lsrtnpptqk
      181 ppsppmsgrg tlgrntpykt lepvkpptvp ndymtsparl gsqhspgrta slnqrprths
      241 gssggsgsre nsgsssigip iavptpsppt igpapgsapg sqygtmtrqi srhnsttsst
      301 ssggyrrtps vtaqfsaqph vnggplysqn siadsptppp ppppddipmf ddsppppppp
      361 pvdyedeeaa vvqyndpyad gdpawapkny iekvvaiydy tkdkddelsf megaiiyvik
      421 knddgwyegv cnrvtglfpg nyvesimhyt d
//
LOCUS       NP_000646                372 aa            linear   PRI 22-JAN-2023
DEFINITION  L-selectin precursor [Homo sapiens].
ACCESSION   NP_000646
VERSION     NP_000646.3
DBSOURCE    REFSEQ: accession NM_000655.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 372)
  AUTHORS   Song H, Huang XF, Hu SY, Lu LL and Yang XY.
  TITLE     The LINC00261/MiR105-5p/SELL axis is involved in dysfunction of B
            cell and is associated with overall survival in hepatocellular
            carcinoma
  JOURNAL   PeerJ 10, e12588 (2022)
   PUBMED   35702258
  REMARK    GeneRIF: The LINC00261/MiR105-5p/SELL axis is involved in
            dysfunction of B cell and is associated with overall survival in
            hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 372)
  AUTHORS   Rutkowska E, Kwiecien I, Klos K, Rzepecki P and Chcialowski A.
  TITLE     Intermediate Monocytes with PD-L1 and CD62L Expression as a
            Possible Player in Active SARS-CoV-2 Infection
  JOURNAL   Viruses 14 (4), 819 (2022)
   PUBMED   35458548
  REMARK    GeneRIF: Intermediate Monocytes with PD-L1 and CD62L Expression as
            a Possible Player in Active SARS-CoV-2 Infection.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 372)
  AUTHORS   Ito Y, Nakahara F, Kagoya Y and Kurokawa M.
  TITLE     CD62L expression level determines the cell fate of myeloid
            progenitors
  JOURNAL   Stem Cell Reports 16 (12), 2871-2886 (2021)
   PUBMED   34798065
  REMARK    GeneRIF: CD62L expression level determines the cell fate of myeloid
            progenitors.
REFERENCE   4  (residues 1 to 372)
  AUTHORS   Campana S, De Pasquale C, Barberi C, Oliveri D, Sidoti Migliore G,
            Galletti B, Guarneri C, Cannavo SP and Ferlazzo G.
  TITLE     Circulating ILC precursors expressing CD62L exhibit a type 2
            signature distinctly decreased in psoriatic patients
  JOURNAL   Eur J Immunol 51 (7), 1792-1798 (2021)
   PUBMED   33728641
  REMARK    GeneRIF: Circulating ILC precursors expressing CD62L exhibit a type
            2 signature distinctly decreased in psoriatic patients.
REFERENCE   5  (residues 1 to 372)
  AUTHORS   Peng Z, Liu C, Victor AR, Cao DY, Veiras LC, Bernstein EA, Khan Z,
            Giani JF, Cui X, Bernstein KE and Okwan-Duodu D.
  TITLE     Tumors exploit CXCR4hiCD62Llo aged neutrophils to facilitate
            metastatic spread
  JOURNAL   Oncoimmunology 10 (1), 1870811 (2021)
   PUBMED   33537175
  REMARK    GeneRIF: Tumors exploit CXCR4(hi)CD62L(lo) aged neutrophils to
            facilitate metastatic spread.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 372)
  AUTHORS   Lasky LA, Singer MS, Dowbenko D, Imai Y, Henzel WJ, Grimley C,
            Fennie C, Gillett N, Watson SR and Rosen SD.
  TITLE     An endothelial ligand for L-selectin is a novel mucin-like molecule
  JOURNAL   Cell 69 (6), 927-938 (1992)
   PUBMED   1376638
REFERENCE   7  (residues 1 to 372)
  AUTHORS   Ryan US and Worthington RE.
  TITLE     Cell-cell contact mechanisms
  JOURNAL   Curr Opin Immunol 4 (1), 33-37 (1992)
   PUBMED   1375831
  REMARK    Review article
REFERENCE   8  (residues 1 to 372)
  AUTHORS   Bevilacqua,M., Butcher,E., Furie,B., Furie,B., Gallatin,M.,
            Gimbrone,M., Harlan,J., Kishimoto,K., Lasky,L., McEver,R. et al.
  TITLE     Selectins: a family of adhesion receptors
  JOURNAL   Cell 67 (2), 233 (1991)
   PUBMED   1717161
REFERENCE   9  (residues 1 to 372)
  AUTHORS   Ord DC, Ernst TJ, Zhou LJ, Rambaldi A, Spertini O, Griffin J and
            Tedder TF.
  TITLE     Structure of the gene encoding the human leukocyte adhesion
            molecule-1 (TQ1, Leu-8) of lymphocytes and neutrophils
  JOURNAL   J Biol Chem 265 (14), 7760-7767 (1990)
   PUBMED   1692315
REFERENCE   10 (residues 1 to 372)
  AUTHORS   Tedder TF, Isaacs CM, Ernst TJ, Demetri GD, Adler DA and Disteche
            CM.
  TITLE     Isolation and chromosomal localization of cDNAs encoding a novel
            human lymphocyte cell surface molecule, LAM-1. Homology with the
            mouse lymphocyte homing receptor and other human adhesion proteins
  JOURNAL   J Exp Med 170 (1), 123-133 (1989)
   PUBMED   2473156
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA671852.1, AJ246000.1,
            BQ004720.1 and BP393094.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 9, 2018 this sequence version replaced NP_000646.2.
            
            Summary: This gene encodes a cell surface adhesion molecule that
            belongs to a family of adhesion/homing receptors. The encoded
            protein contains a C-type lectin-like domain, a calcium-binding
            epidermal growth factor-like domain, and two short complement-like
            repeats. The gene product is required for binding and subsequent
            rolling of leucocytes on endothelial cells, facilitating their
            migration into secondary lymphoid organs and inflammation sites.
            Single-nucleotide polymorphisms in this gene have been associated
            with various diseases including immunoglobulin A nephropathy.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the functional protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X16150.1, X17519.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000236147.6/
                                                ENSP00000236147.5
            RefSeq Select criteria           :: based on single protein-coding
                                                transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..372
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.2"
     Protein         1..372
                     /product="L-selectin precursor"
                     /note="lymph node homing receptor; lymphocyte adhesion
                     molecule 1; pln homing receptor; CD62 antigen-like family
                     member L; gp90-MEL; leukocyte-endothelial cell adhesion
                     molecule 1; leukocyte surface antigen Leu-8"
                     /calculated_mol_wt=38669
     sig_peptide     1..28
                     /note="propagated from UniProtKB/Swiss-Prot (P14151.2)"
                     /calculated_mol_wt=3536
     mat_peptide     39..372
                     /product="L-selectin"
                     /calculated_mol_wt=37572
     Region          39..157
                     /region_name="CLECT_selectins_like"
                     /note="C-type lectin-like domain (CTLD) of the type found
                     in the type 1 transmembrane proteins: P(platlet)-,
                     E(endothelial)-, and L(leukocyte)- selectins (sels);
                     cd03592"
                     /db_xref="CDD:153062"
     Site            60
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19349973, ECO:0000269|PubMed:28011641,
                     ECO:0000305|PubMed:28489325, ECO:0007744|PDB:3CFW;
                     propagated from UniProtKB/Swiss-Prot (P14151.2)"
     Site            order(86,118,120..121,130,132,143..145)
                     /site_type="other"
                     /note="carbohydrate binding site [chemical binding]"
                     /db_xref="CDD:153062"
     Site            order(86,118,120,126,130,132,143..145)
                     /site_type="other"
                     /note="PSGL-1 peptide binding surface"
                     /db_xref="CDD:153062"
     Site            104
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973,
                     ECO:0000269|PubMed:28011641, ECO:0000269|PubMed:28489325,
                     ECO:0007744|PDB:3CFW; propagated from UniProtKB/Swiss-Prot
                     (P14151.2)"
     Region          <165..192
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            177
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305|PubMed:28489325; propagated from
                     UniProtKB/Swiss-Prot (P14151.2)"
     Region          197..255
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(207,228)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Site            232
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P14151.2)"
     Site            246
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P14151.2)"
     Region          259..317
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(269,290)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Site            271
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P14151.2)"
     Site            333..355
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P14151.2)"
     CDS             1..372
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /coded_by="NM_000655.5:123..1241"
                     /db_xref="CCDS:CCDS53427.2"
                     /db_xref="GeneID:6402"
                     /db_xref="HGNC:HGNC:10720"
                     /db_xref="MIM:153240"
ORIGIN      
        1 mifpwkcqst qrdlwnifkl wgwtmlccdf lahhgtdcwt yhysekpmnw qrarrfcrdn
       61 ytdlvaiqnk aeieylektl pfsrsyywig irkiggiwtw vgtnksltee aenwgdgepn
      121 nkknkedcve iyikrnkdag kwnddachkl kaalcytasc qpwscsghge cveiinnytc
      181 ncdvgyygpq cqfviqcepl eapelgtmdc thplgnfsfs sqcafscseg tnltgieett
      241 cgpfgnwssp eptcqviqce plsapdlgim ncshplasfs ftsactfics egteligkkk
      301 ticessgiws npspicqkld ksfsmikegd ynplfipvav mvtafsglaf iiwlarrlkk
      361 gkkskrsmnd py
//
LOCUS       NP_001182147             242 aa            linear   PRI 22-JAN-2023
DEFINITION  L-xylulose reductase isoform 2 [Homo sapiens].
ACCESSION   NP_001182147
VERSION     NP_001182147.1
DBSOURCE    REFSEQ: accession NM_001195218.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 242)
  AUTHORS   Jin Y, Zhang M, Tong Y, Qiu L, Ye Y and Zhao B.
  TITLE     DCXR promotes cell proliferation by promoting the activity of
            aerobic glycolysis in breast cancer
  JOURNAL   Mol Med Rep 27 (2) (2023)
   PUBMED   36562355
  REMARK    GeneRIF: DCXR promotes cell proliferation by promoting the activity
            of aerobic glycolysis in breast cancer.
REFERENCE   2  (residues 1 to 242)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 242)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 242)
  AUTHORS   Yang S, Jan YH, Mishin V, Heck DE, Laskin DL and Laskin JD.
  TITLE     Diacetyl/l-Xylulose Reductase Mediates Chemical Redox Cycling in
            Lung Epithelial Cells
  JOURNAL   Chem Res Toxicol 30 (7), 1406-1418 (2017)
   PUBMED   28595002
  REMARK    GeneRIF: identification of DCXR as an enzyme activity mediating
            chemical redox cycling suggests that it may be important in
            generating cytotoxic reactive oxygen species in the lung
REFERENCE   5  (residues 1 to 242)
  AUTHORS   Ma XP and Gao XQ.
  TITLE     The effect of Ureaplasma urealyticum on the level of P34H
            expression, the activity of hyaluronidase, and DNA fragmentation in
            human spermatozoa
  JOURNAL   Am J Reprod Immunol 77 (1) (2017)
   PUBMED   28012250
  REMARK    GeneRIF: Ureaplasma urealyticum infection may affect the level of
            P34H protein expression on spermatozoa
REFERENCE   6  (residues 1 to 242)
  AUTHORS   Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR
            and Vandekerckhove J.
  TITLE     Exploring proteomes and analyzing protein processing by mass
            spectrometric identification of sorted N-terminal peptides
  JOURNAL   Nat Biotechnol 21 (5), 566-569 (2003)
   PUBMED   12665801
REFERENCE   7  (residues 1 to 242)
  AUTHORS   Xia XY, Xu XF, Gao Y and Huang YF.
  TITLE     [Molecular cloning of human sperm surface protein P34H gene and
            semi-quantitative analysis of its expression in testis and
            epididymidis]
  JOURNAL   Zhonghua Nan Ke Xue 9 (1), 24-27 (2003)
   PUBMED   12680326
REFERENCE   8  (residues 1 to 242)
  AUTHORS   El-Kabbani O, Chung RP, Ishikura S, Usami N, Nakagawa J and Hara A.
  TITLE     Crystallization and preliminary crystallographic analysis of human
            L-xylulose reductase
  JOURNAL   Acta Crystallogr D Biol Crystallogr 58 (Pt 8), 1379-1380 (2002)
   PUBMED   12136162
  REMARK    GeneRIF: crystallization and preliminary crystallographic analysis
REFERENCE   9  (residues 1 to 242)
  AUTHORS   Nakagawa J, Ishikura S, Asami J, Isaji T, Usami N, Hara A, Sakurai
            T, Tsuritani K, Oda K, Takahashi M, Yoshimoto M, Otsuka N and
            Kitamura K.
  TITLE     Molecular characterization of mammalian dicarbonyl/L-xylulose
            reductase and its localization in kidney
  JOURNAL   J Biol Chem 277 (20), 17883-17891 (2002)
   PUBMED   11882650
  REMARK    GeneRIF: highly expressed in kidney and liver
REFERENCE   10 (residues 1 to 242)
  AUTHORS   Legare C, Gaudreault C, St-Jacques S and Sullivan R.
  TITLE     P34H sperm protein is preferentially expressed by the human corpus
            epididymidis
  JOURNAL   Endocrinology 140 (7), 3318-3327 (1999)
   PUBMED   10385429
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG434209.1, AV653537.1 and
            AF113123.1.
            
            Summary: The protein encoded by this gene acts as a homotetramer to
            catalyze diacetyl reductase and L-xylulose reductase reactions. The
            encoded protein may play a role in the uronate cycle of glucose
            metabolism and in the cellular osmoregulation in the proximal renal
            tubules. Defects in this gene are a cause of pentosuria. Two
            transcript variants encoding different isoforms have been found for
            this gene.[provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction at the 5' end of an exon compared to variant 1. The
            resulting isoform (2) has the same N- and C-termini but is 2 aa
            shorter compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.426751.1,
                                           SRR1163658.511987.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155590 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..242
                     /product="L-xylulose reductase isoform 2"
                     /EC_number="1.1.1.10"
                     /note="kidney dicarbonyl reductase; dicarbonyl/L-xylulose
                     reductase; carbonyl reductase 2; carbonyl reductase II;
                     sperm surface protein P34H; short chain
                     dehydrogenase/reductase family 20C member 1; epididymis
                     secretory sperm binding protein; human carbonyl reductase
                     2"
                     /calculated_mol_wt=25612
     Region          1..242
                     /region_name="XR_like_SDR_c"
                     /note="xylulose reductase-like, classical (c) SDRs;
                     cd05351"
                     /db_xref="CDD:187609"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000269|PubMed:12665801,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4W1.2)"
     Site            order(14,16..18,36..38,41,57..60,81..84,100,104,132..134,
                     147,151,177..180,182..185)
                     /site_type="other"
                     /note="NADP binding site [chemical binding]"
                     /db_xref="CDD:187609"
     Site            19
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4W1.2)"
     Site            44
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4W1.2)"
     Site            order(62,89..91,93,95,98..99,102,106..107,110,113..114,
                     118,121,136..140,145..146,148..149,152..153,156..157,
                     159..164,166..167,201,203..206,208,211..212,215..216,219,
                     224,226..229,234..238,240..242)
                     /site_type="other"
                     /note="homotetramer interface [polypeptide binding]"
                     /db_xref="CDD:187609"
     Site            order(62,89..91,93,95,98..99,102,106..107,110,113..114,
                     118,121,136..140,145..146,148..149,152..153,156..157,
                     159..161,163..164)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:187609"
     Site            order(105,134,147,151)
                     /site_type="active"
                     /db_xref="CDD:187609"
     CDS             1..242
                     /gene="DCXR"
                     /gene_synonym="DCR; HCR2; HCRII; KIDCR; P34H; PNTSU;
                     SDR20C1; XR"
                     /coded_by="NM_001195218.1:16..744"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:51181"
                     /db_xref="HGNC:HGNC:18985"
                     /db_xref="MIM:608347"
ORIGIN      
        1 melflagrrv lvtgagkgrg tvqalhatga rvvavsrtqa dldslvrecp giepvcvdlg
       61 dweateralg svgpvdllvn naavallqpf levtkeafdr sfevnlravi qvsqivargl
      121 iargvpgaiv nvssqcsqra vtnhsvycst kgaldmltkv malelgphki rvnavnptvv
      181 mtsmgqatws dphkaktmln riplgkfaev ehvvnailfl lsdrsgmttg stlpveggfw
      241 ac
//
LOCUS       NP_001338031            1268 aa            linear   PRI 22-JAN-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 19 isoform 9 [Homo sapiens].
ACCESSION   NP_001338031 XP_005264888
VERSION     NP_001338031.1
DBSOURCE    REFSEQ: accession NM_001351102.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1268)
  AUTHORS   Zhang J, van Dinther M, Thorikay M, Gourabi BM, Kruithof BPT and
            Ten Dijke P.
  TITLE     Opposing USP19 splice variants in TGF-beta signaling and
            TGF-beta-induced epithelial-mesenchymal transition of breast cancer
            cells
  JOURNAL   Cell Mol Life Sci 80 (2), 43 (2023)
   PUBMED   36646950
  REMARK    GeneRIF: Opposing USP19 splice variants in TGF-beta signaling and
            TGF-beta-induced epithelial-mesenchymal transition of breast cancer
            cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1268)
  AUTHORS   Chandrasekaran AP, Tyagi A, Poondla N, Sarodaya N, Karapurkar JK,
            Kaushal K, Park CH, Hong SH, Kim KS and Ramakrishna S.
  TITLE     Dual role of deubiquitinating enzyme USP19 regulates mitotic
            progression and tumorigenesis by stabilizing survivin
  JOURNAL   Mol Ther 30 (11), 3414-3429 (2022)
   PUBMED   35918893
  REMARK    GeneRIF: Dual role of deubiquitinating enzyme USP19 regulates
            mitotic progression and tumorigenesis by stabilizing survivin.
REFERENCE   3  (residues 1 to 1268)
  AUTHORS   Sarodaya N, Tyagi A, Kim HJ, Kang JS, Singh V, Hong SH, Kim WJ, Kim
            KS and Ramakrishna S.
  TITLE     Deubiquitinase USP19 extends the residual enzymatic activity of
            phenylalanine hydroxylase variants
  JOURNAL   Sci Rep 12 (1), 14243 (2022)
   PUBMED   35987969
  REMARK    GeneRIF: Deubiquitinase USP19 extends the residual enzymatic
            activity of phenylalanine hydroxylase variants.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1268)
  AUTHORS   Chai P, Cheng Y, Hou C, Yin L, Zhang D, Hu Y, Chen Q, Zheng P, Teng
            J and Chen J.
  TITLE     USP19 promotes hypoxia-induced mitochondrial division via FUNDC1 at
            ER-mitochondria contact sites
  JOURNAL   J Cell Biol 220 (7) (2021)
   PUBMED   33978709
  REMARK    GeneRIF: USP19 promotes hypoxia-induced mitochondrial division via
            FUNDC1 at ER-mitochondria contact sites.
REFERENCE   5  (residues 1 to 1268)
  AUTHORS   Hu W, Su Y, Fei X, Wang X, Zhang G, Su C, Du T, Yang T, Wang G,
            Tang Z and Zhang J.
  TITLE     Ubiquitin specific peptidase 19 is a prognostic biomarker and
            affect the proliferation and migration of clear cell renal cell
            carcinoma
  JOURNAL   Oncol Rep 43 (6), 1964-1974 (2020)
   PUBMED   32236633
  REMARK    GeneRIF: Ubiquitin specific peptidase 19 is a prognostic biomarker
            and affect the proliferation and migration of clear cell renal cell
            carcinoma.
REFERENCE   6  (residues 1 to 1268)
  AUTHORS   Mei Y, Hahn AA, Hu S and Yang X.
  TITLE     The USP19 deubiquitinase regulates the stability of c-IAP1 and
            c-IAP2
  JOURNAL   J Biol Chem 286 (41), 35380-35387 (2011)
   PUBMED   21849505
  REMARK    GeneRIF: The USP19 deubiquitinase regulates the stability of c-IAP1
            and c-IAP2.
REFERENCE   7  (residues 1 to 1268)
  AUTHORS   Lu Y, Bedard N, Chevalier S and Wing SS.
  TITLE     Identification of distinctive patterns of USP19-mediated growth
            regulation in normal and malignant cells
  JOURNAL   PLoS One 6 (1), e15936 (2011)
   PUBMED   21264218
  REMARK    GeneRIF: ability of USP19 to regulate cell proliferation and
            p27(Kip1) levels; complete loss of USP19 function on cell growth
            may arise as a result of oncogenic transformation of cells.
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 1268)
  AUTHORS   Hassink GC, Zhao B, Sompallae R, Altun M, Gastaldello S, Zinin NV,
            Masucci MG and Lindsten K.
  TITLE     The ER-resident ubiquitin-specific protease 19 participates in the
            UPR and rescues ERAD substrates
  JOURNAL   EMBO Rep 10 (7), 755-761 (2009)
   PUBMED   19465887
  REMARK    GeneRIF: USP19 is the first example of a membrane-anchored
            deubiquitinating enzymes involved in the turnover of
            endoplasmic-reticulum-associated degradation substrates.
REFERENCE   9  (residues 1 to 1268)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   10 (residues 1 to 1268)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135506.3.
            On May 4, 2017 this sequence version replaced XP_005264888.1.
            
            Summary: Protein ubiquitination controls many intracellular
            processes, including cell cycle progression, transcriptional
            activation, and signal transduction. This dynamic process,
            involving ubiquitin conjugating enzymes and deubiquitinating
            enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are
            cysteine proteases that specifically cleave ubiquitin from
            ubiquitin-conjugated protein substrates. This protein is a
            ubiquitin protein ligase and plays a role in muscle wasting.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, May
            2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.559276.1,
                                           SRR18074967.3554297.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1268
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..1268
                     /product="ubiquitin carboxyl-terminal hydrolase 19 isoform
                     9"
                     /EC_number="3.4.19.12"
                     /note="ubiquitin specific protease 19; deubiquitinating
                     enzyme 19; zinc finger MYND domain-containing protein 9;
                     ubiquitin-specific-processing protease 19; ubiquitin
                     carboxyl-terminal hydrolase 19; ubiquitin thioesterase 19;
                     ubiquitin thiolesterase 19"
                     /calculated_mol_wt=139892
     Region          105..187
                     /region_name="p23_like"
                     /note="Proteins containing this p23_like domain include
                     p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1.
                     Both are co-chaperones for the heat shock protein (Hsp)
                     90. p23 binds Hsp90 and participates in the folding of a
                     number of Hsp90 clients, including...; cd06463"
                     /db_xref="CDD:107220"
     Region          219..240
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94966.2)"
     Site            229
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94966.2)"
     Region          273..369
                     /region_name="p23_CS_SGT1_like"
                     /note="p23_like domain similar to the C-terminal
                     CHORD-SGT1 (CS) domain of Sgt1 (suppressor of G2 allele of
                     Skp1). Sgt1 interacts with multiple protein complexes and
                     has the features of a cochaperone. Human (h) Sgt1
                     interacts with both Hsp70 and Hsp90, and has...; cd06466"
                     /db_xref="CDD:107223"
     Region          360..482
                     /region_name="USP19_linker"
                     /note="Linker region of USP19 deubiquitinase; pfam16602"
                     /db_xref="CDD:435454"
     Region          377..466
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94966.2)"
     Region          <480..1202
                     /region_name="UBP12"
                     /note="Ubiquitin C-terminal hydrolase [Posttranslational
                     modification, protein turnover, chaperones]; COG5560"
                     /db_xref="CDD:227847"
     Region          1205..1226
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94966.2)"
     CDS             1..1268
                     /gene="USP19"
                     /gene_synonym="ZMYND9"
                     /coded_by="NM_001351102.2:205..4011"
                     /note="isoform 9 is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS93271.1"
                     /db_xref="GeneID:10869"
                     /db_xref="HGNC:HGNC:12617"
                     /db_xref="MIM:614471"
ORIGIN      
        1 msggasatgp rrgppgledt tskkkqkdra nqeskdgdpr ketgsryvaq agleplasgd
       61 psasashaag itgsrhrtrl ffpsssgsas tpqeeqtkee llldwrqsae evivklrvgv
      121 gplqledvda aftdtdcvvr faggqqwggv fyaeikssca kvqtrkgsll hltlpkkvpm
      181 ltwpsllvea deqlcippln sqtcllgsee nlaplageka vppgndpvsp amvrsrnpgk
      241 ddcakeemav aadaatlvde pesmvnlafv kndsyekgpd svvvhvyvke icrdtsrvlf
      301 reqdftlifq trdgnflrlh pgcgphttfr wqvklrnlie peqctfcfta sridiclrkr
      361 qsqrwgglea paargavgga kvavptgptp ldstppggap hpltgqeear avekdkskar
      421 sedtgldsva trtpmehvtp kpethlaspk ptcmvppmph spvsgdsvee eeeeekkvcl
      481 pgftglvnlg ntcfmnsviq slsntrelrd ffhdrsfeae inynnplgtg grlaigfavl
      541 lralwkgthh afqpsklkai vaskasqftg yaqhdaqefm aflldglhed lnriqnkpyt
      601 etvdsdgrpd evvaeeawqr hkmrndsfiv dlfqgqyksk lvcpvcakvs itfdpflylp
      661 vplpqkqkvl pvfyfareph skpikflvsv skenstasev ldslsqsvhv kpenlrlaev
      721 iknrfhrvfl pshsldtvsp sdtllcfell sselakervv vlevqqrpqv psvpiskcaa
      781 cqrkqqsede klkrctrcyr vgycnqlcqk thwpdhkglc rpenigypfl vsvpasrlty
      841 arlaqllegy arysvsvfqp pfqpgrmale sqspgcttll stgsleagds erdpiqppel
      901 qlvtpmaegd tglprvwaap drgpvpstsg issemlasgp ievgslpage rvsrpeaavp
      961 gyqhpseamn ahtpqffiyk idssnreqrl edkgdtplel gddcslalvw rnnerlqefv
     1021 lvaskeleca edpgsageaa raghftldqc lnlftrpevl apeeawycpq ckqhreaskq
     1081 lllwrlpnvl ivqlkrfsfr sfiwrdkind lvefpvrnld lskfcigqke eqlpsydlya
     1141 vinhyggmig ghytacarlp ndrssqrsdv gwrlfddstv ttvdesqvvt ryayvlfyrr
     1201 rnspverppr aghsehhpdl gpaaeaaasq glgpgqapev aptrtaperf appvdrpapt
     1261 ysnmeevd
//
LOCUS       NP_001333509             527 aa            linear   PRI 07-FEB-2023
DEFINITION  zinc finger protein with KRAB and SCAN domains 1 isoform b [Homo
            sapiens].
ACCESSION   NP_001333509
VERSION     NP_001333509.1
DBSOURCE    REFSEQ: accession NM_001346580.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 527)
  AUTHORS   Song R, Ma S, Xu J, Ren X, Guo P, Liu H, Li P, Yin F, Liu M, Wang
            Q, Yu L, Liu J, Duan B, Rahman NA, Wolczynski S, Li G and Li X.
  TITLE     A novel polypeptide encoded by the circular RNA ZKSCAN1 suppresses
            HCC via degradation of mTOR
  JOURNAL   Mol Cancer 22 (1), 16 (2023)
   PUBMED   36691031
  REMARK    GeneRIF: A novel polypeptide encoded by the circular RNA ZKSCAN1
            suppresses HCC via degradation of mTOR.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 527)
  AUTHORS   Li J, Bao S, Wang L and Wang R.
  TITLE     CircZKSCAN1 Suppresses Hepatocellular Carcinoma Tumorigenesis by
            Regulating miR-873-5p/Downregulation of Deleted in Liver Cancer 1
  JOURNAL   Dig Dis Sci 66 (12), 4374-4383 (2021)
   PUBMED   33439397
  REMARK    GeneRIF: CircZKSCAN1 Suppresses Hepatocellular Carcinoma
            Tumorigenesis by Regulating miR-873-5p/Downregulation of Deleted in
            Liver Cancer 1.
REFERENCE   3  (residues 1 to 527)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 527)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 527)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 527)
  AUTHORS   Jikuya H, Takano J, Kikuno R, Hirosawa M, Nagase T, Nomura N and
            Ohara O.
  TITLE     Characterization of long cDNA clones from human adult spleen. II.
            The complete sequences of 81 cDNA clones
  JOURNAL   DNA Res 10 (1), 49-57 (2003)
   PUBMED   12693554
REFERENCE   7  (residues 1 to 527)
  AUTHORS   Tommerup N and Vissing H.
  TITLE     Isolation and fine mapping of 16 novel human zinc finger-encoding
            cDNAs identify putative candidate genes for developmental and
            malignant disorders
  JOURNAL   Genomics 27 (2), 259-264 (1995)
   PUBMED   7557990
REFERENCE   8  (residues 1 to 527)
  AUTHORS   Rousseau-Merck MF, Duro D, Berger R and Thiesen HJ.
  TITLE     Chromosomal localization of two KOX zinc finger genes on chromosome
            bands 7q21-q22
  JOURNAL   Ann Genet 38 (2), 81-84 (1995)
   PUBMED   7486829
REFERENCE   9  (residues 1 to 527)
  AUTHORS   Huebner K, Druck T, Croce CM and Thiesen HJ.
  TITLE     Twenty-seven nonoverlapping zinc finger cDNAs from human T cells
            map to nine different chromosomes with apparent clustering
  JOURNAL   Am J Hum Genet 48 (4), 726-740 (1991)
   PUBMED   2014798
REFERENCE   10 (residues 1 to 527)
  AUTHORS   Thiesen HJ.
  TITLE     Multiple genes encoding zinc finger domains are expressed in human
            T cells
  JOURNAL   New Biol 2 (4), 363-374 (1990)
   PUBMED   2288909
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004522.3, AC093619.5 and
            CB250414.1.
            
            Summary: This gene encodes a member of the Kruppel C2H2-type
            zinc-finger family of proteins. This encoded protein may function
            as a transcription factor that regulates the expression of GABA
            type-A receptors in the brain. Transcripts from this gene have been
            shown to form stable and abundant circular RNAs. Elevated
            expression of this gene has been observed in gastric cancer and the
            encoded protein may stimulate migration and invasion of human
            gastric cancer cells. [provided by RefSeq, Oct 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.134465.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..527
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     Protein         1..527
                     /product="zinc finger protein with KRAB and SCAN domains 1
                     isoform b"
                     /note="zinc finger protein 36 (KOX 18); zinc finger
                     protein 139"
                     /calculated_mol_wt=59544
     Region          16..126
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Region          191..226
                     /region_name="KRAB_A-box"
                     /note="KRAB (Kruppel-associated box) domain -A box;
                     cd07765"
                     /db_xref="CDD:143639"
     Region          319..335
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <320..501
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          343..363
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(343,346,359,363)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          371..391
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(371,374,387,391)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          399..419
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(399,402,415,419)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(404,406,408,410..411,414..415,418,432,434,438..439,
                     442..443,446,460,462,464,466..467,470..471,474)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          427..447
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          455..475
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          483..503
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..527
                     /gene="ZKSCAN1"
                     /gene_synonym="KOX18; PHZ-37; ZNF139; ZNF36; ZSCAN33"
                     /coded_by="NM_001346580.2:238..1821"
                     /note="isoform b is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS69349.1"
                     /db_xref="GeneID:7586"
                     /db_xref="HGNC:HGNC:13101"
                     /db_xref="MIM:601260"
ORIGIN      
        1 mwgqdstlqd tpppdpeifr qrfrrfcyqn tfgprealsr lkelchqwlr peintkeqil
       61 ellvleqfls ilpkelqvwl qeyrpdsgee avtlledlel dlsgqqvpgq vhgpemlarg
      121 mvpldpvqes ssfdlhheat qshfkhssrk prllqsralp aahipapphe gsprdqamas
      181 alftadsqam vkiedmavsl ileewgcqnl arrnlsrdnr qenygsafpq ggenrnenee
      241 stskaetsed sasrgettgr sqkefgekrd qegktgerqq knpeektrke krdsgpaigk
      301 dkktitgerg prekgkglgr sfslssnftt peevptgtks hrcdecgkcf trssslirhk
      361 iihtgekpye csecgkafsl nsnlvlhqri htgekphecn ecgkafshss nlilhqrihs
      421 gekpyecnec gkafsqssdl tkhqrihtge kpyecsecgk afnrnsylil hrrihtrekp
      481 ykctkcgkaf trsstltlhh riharerase yspasldafg aflkscv
//
LOCUS       NP_001231933             439 aa            linear   PRI 19-FEB-2023
DEFINITION  nuclear factor 1 C-type isoform 3 [Homo sapiens].
ACCESSION   NP_001231933
VERSION     NP_001231933.1
DBSOURCE    REFSEQ: accession NM_001245004.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 439)
  AUTHORS   Rastogi N, Gonzalez JBM, Srivastava VK, Alanazi B, Alanazi RN,
            Hughes OM, O'Neill NS, Gilkes AF, Ashley N, Deshpande S, Andrews R,
            Mead A, Rodrigues NP, Knapper S, Darley RL and Tonks A.
  TITLE     Nuclear factor I-C overexpression promotes monocytic development
            and cell survival in acute myeloid leukemia
  JOURNAL   Leukemia 37 (2), 276-287 (2023)
   PUBMED   36572750
  REMARK    GeneRIF: Nuclear factor I-C overexpression promotes monocytic
            development and cell survival in acute myeloid leukemia.
REFERENCE   2  (residues 1 to 439)
  AUTHORS   Zhang J, Wang Z, Liang Z, Jin C, Shi Y, Fan M, Hu X and Wan Y.
  TITLE     NFIC1 inhibits the migration and invasion of MDA-MB-231 cells
            through S100A2-mediated inactivation of MEK/ERK pathway
  JOURNAL   Arch Biochem Biophys 734, 109497 (2023)
   PUBMED   36574914
  REMARK    GeneRIF: NFIC1 inhibits the migration and invasion of MDA-MB-231
            cells through S100A2-mediated inactivation of MEK/ERK pathway.
REFERENCE   3  (residues 1 to 439)
  AUTHORS   Ye Y, Jin Q, Gong Q, Li A, Sun M, Jiang S, Jin Y, Zhang Z, He J and
            Zhuang L.
  TITLE     Bioinformatics and Experimental Analyses Reveal NFIC as an Upstream
            Transcriptional Regulator for Ischemic Cardiomyopathy
  JOURNAL   Genes (Basel) 13 (6), 1051 (2022)
   PUBMED   35741813
  REMARK    GeneRIF: Bioinformatics and Experimental Analyses Reveal NFIC as an
            Upstream Transcriptional Regulator for Ischemic Cardiomyopathy.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 439)
  AUTHORS   Zhao F, Wu L, Wang Q, Zhao X, Chen T, Yin C, Yan L and Yang X.
  TITLE     Insulin-like growth factor 2 mRNA-binding protein 2-regulated
            alternative splicing of nuclear factor 1 C-type causes excessive
            granulosa cell proliferation in polycystic ovary syndrome
  JOURNAL   Cell Prolif 55 (4), e13216 (2022)
   PUBMED   35293050
  REMARK    GeneRIF: Insulin-like growth factor 2 mRNA-binding protein
            2-regulated alternative splicing of nuclear factor 1 C-type causes
            excessive granulosa cell proliferation in polycystic ovary
            syndrome.
REFERENCE   5  (residues 1 to 439)
  AUTHORS   Lv S, Liu L, Yang B and Zhao X.
  TITLE     Association of miR-9-5p and NFIC in the progression of gastric
            cancer
  JOURNAL   Hum Exp Toxicol 41, 9603271221084671 (2022)
   PUBMED   35481447
  REMARK    GeneRIF: Association of miR-9-5p and NFIC in the progression of
            gastric cancer.
REFERENCE   6  (residues 1 to 439)
  AUTHORS   Wenzelides S, Altmann H, Wendler W and Winnacker EL.
  TITLE     CTF5--a new transcriptional activator of the NFI/CTF family
  JOURNAL   Nucleic Acids Res 24 (12), 2416-2421 (1996)
   PUBMED   8710515
REFERENCE   7  (residues 1 to 439)
  AUTHORS   Blau J, Xiao H, McCracken S, O'Hare P, Greenblatt J and Bentley D.
  TITLE     Three functional classes of transcriptional activation domain
  JOURNAL   Mol Cell Biol 16 (5), 2044-2055 (1996)
   PUBMED   8628270
REFERENCE   8  (residues 1 to 439)
  AUTHORS   Qian F, Kruse U, Lichter P and Sippel AE.
  TITLE     Chromosomal localization of the four genes (NFIA, B, C, and X) for
            the human transcription factor nuclear factor I by FISH
  JOURNAL   Genomics 28 (1), 66-73 (1995)
   PUBMED   7590749
REFERENCE   9  (residues 1 to 439)
  AUTHORS   Nehls MC, Grapilon ML and Brenner DA.
  TITLE     NF-I/Sp1 switch elements regulate collagen alpha 1(I) gene
            expression
  JOURNAL   DNA Cell Biol 11 (6), 443-452 (1992)
   PUBMED   1524678
REFERENCE   10 (residues 1 to 439)
  AUTHORS   Santoro C, Mermod N, Andrews PC and Tjian R.
  TITLE     A family of human CCAAT-box-binding proteins active in
            transcription and DNA replication: cloning and expression of
            multiple cDNAs
  JOURNAL   Nature 334 (6179), 218-224 (1988)
   PUBMED   3398920
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC012120.1, AK289885.1,
            CB053896.1, CK431049.1, AC005551.1, KF456476.1 and BU727954.1.
            
            Summary: The protein encoded by this gene belongs to the CTF/NF-I
            family. These are dimeric DNA-binding proteins, and function as
            cellular transcription factors and as replication factors for
            adenovirus DNA replication. Alternatively spliced transcript
            variants encoding different isoforms have been described for this
            gene. [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (3) lacks an exon in the 3' coding
            region compared to variant 1. This results in a frame-shift, and a
            shorter isoform (3) with a distinct C-terminus compared to isoform
            1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK297867.1, SRR7346977.1934926.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..439
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..439
                     /product="nuclear factor 1 C-type isoform 3"
                     /note="nuclear factor 1 C-type; NF1-C; NF-I/C;
                     TGGCA-binding protein; nuclear factor I/C (CCAAT-binding
                     transcription factor); CCAAT-box-binding transcription
                     factor"
                     /calculated_mol_wt=48763
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Region          10..47
                     /region_name="NfI_DNAbd_pre-N"
                     /note="Nuclear factor I protein pre-N-terminus; pfam10524"
                     /db_xref="CDD:371114"
     Region          68..169
                     /region_name="MH1"
                     /note="N-terminal Mad Homology 1 (MH1) domain; cl00055"
                     /db_xref="CDD:412134"
     Region          190..209
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P08651.2)"
     Site            194
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Region          217..>424
                     /region_name="CTF_NFI"
                     /note="CTF/NF-I family transcription modulation region;
                     pfam00859"
                     /db_xref="CDD:425913"
     Region          267..348
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P08651.2)"
     Site            294
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            300
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P70255; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            302
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70255; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            304
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            305
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            323
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P08651.2)"
     Site            333
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            337
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            339
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            343
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            365
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Site            395
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P08651.2)"
     Region          404..412
                     /region_name="9aaTAD.
                     /evidence=ECO:0000269|PubMed:31375868"
                     /note="propagated from UniProtKB/Swiss-Prot (P08651.2)"
     CDS             1..439
                     /gene="NFIC"
                     /gene_synonym="CTF; CTF5; NF-I; NFI"
                     /coded_by="NM_001245004.2:55..1374"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS59331.1"
                     /db_xref="GeneID:4782"
                     /db_xref="HGNC:HGNC:7786"
                     /db_xref="MIM:600729"
ORIGIN      
        1 myssplcltq defhpfieal lphvrafayt wfnlqarkrk yfkkhekrms kdeeravkde
       61 llgekpevkq kwasrllakl rkdirpecre dfvlsitgkk apgcvlsnpd qkgkmrridc
      121 lrqadkvwrl dlvmvilfkg iplestdger lvkaaqcghp vlcvqphhig vavkeldlyl
      181 ayfvrerdae qsgsprtgmg sdqedskpit ldttdfqesf vtsgvfsvte liqvsrtpvv
      241 tgtgpnfslg elqghlaydl npastglrrt lpstsssgsk rhksgsmeed vdtspggdyy
      301 tspssptsss rnwtedmegg isspvkktem dkspfnspsp qdsprlssft qhhrpviavh
      361 sgiarsphps salhfpttsi lpqtastyfp htairypphl npqdplkdlv slacdpasqq
      421 pgpptlrptr plqtvplwd
//
LOCUS       NP_002194               1181 aa            linear   PRI 19-FEB-2023
DEFINITION  integrin alpha-2 precursor [Homo sapiens].
ACCESSION   NP_002194
VERSION     NP_002194.2
DBSOURCE    REFSEQ: accession NM_002203.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1181)
  AUTHORS   Cho SK, Lee K, Woo JH and Choi JH.
  TITLE     Macrophages Promote Ovarian Cancer-Mesothelial Cell Adhesion by
            Upregulation of ITGA2 and VEGFC in Mesothelial Cells
  JOURNAL   Cells 12 (3), 384 (2023)
   PUBMED   36766725
  REMARK    GeneRIF: Macrophages Promote Ovarian Cancer-Mesothelial Cell
            Adhesion by Upregulation of ITGA2 and VEGFC in Mesothelial Cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1181)
  AUTHORS   Rattanasinchai C, Navasumrit P and Ruchirawat M.
  TITLE     Elevated ITGA2 expression promotes collagen type I-induced
            clonogenic growth of intrahepatic cholangiocarcinoma
  JOURNAL   Sci Rep 12 (1), 22429 (2022)
   PUBMED   36575207
  REMARK    GeneRIF: Elevated ITGA2 expression promotes collagen type I-induced
            clonogenic growth of intrahepatic cholangiocarcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1181)
  AUTHORS   Hunter EJ, Hamaia SW, Kim PS, Malcor JM and Farndale RW.
  TITLE     The effects of inhibition and siRNA knockdown of collagen-binding
            integrins on human umbilical vein endothelial cell migration and
            tube formation
  JOURNAL   Sci Rep 12 (1), 21601 (2022)
   PUBMED   36517525
  REMARK    GeneRIF: The effects of inhibition and siRNA knockdown of
            collagen-binding integrins on human umbilical vein endothelial cell
            migration and tube formation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1181)
  AUTHORS   White DJ, Puranen S, Johnson MS and Heino J.
  TITLE     The collagen receptor subfamily of the integrins
  JOURNAL   Int J Biochem Cell Biol 36 (8), 1405-1410 (2004)
   PUBMED   15147720
  REMARK    Review article
REFERENCE   5  (residues 1 to 1181)
  AUTHORS   Emsley J, King SL, Bergelson JM and Liddington RC.
  TITLE     Crystal structure of the I domain from integrin alpha2beta1
  JOURNAL   J Biol Chem 272 (45), 28512-28517 (1997)
   PUBMED   9353312
REFERENCE   6  (residues 1 to 1181)
  AUTHORS   Zutter MM, Santoro SA, Painter AS, Tsung YL and Gafford A.
  TITLE     The human alpha 2 integrin gene promoter. Identification of
            positive and negative regulatory elements important for cell-type
            and developmentally restricted gene expression
  JOURNAL   J Biol Chem 269 (1), 463-469 (1994)
   PUBMED   8276836
REFERENCE   7  (residues 1 to 1181)
  AUTHORS   Jaspers M, Marynen P, Aly MS, Cuppens H, Hilliker C and Cassiman
            JJ.
  TITLE     Localization of the gene encoding the alpha 2 subunit of the human
            VLA-2 receptor to chromosome 5q23-31
  JOURNAL   Somat Cell Mol Genet 17 (5), 505-511 (1991)
   PUBMED   1763388
REFERENCE   8  (residues 1 to 1181)
  AUTHORS   Staatz WD, Walsh JJ, Pexton T and Santoro SA.
  TITLE     The alpha 2 beta 1 integrin cell surface collagen receptor binds to
            the alpha 1 (I)-CB3 peptide of collagen
  JOURNAL   J Biol Chem 265 (9), 4778-4781 (1990)
   PUBMED   2156854
REFERENCE   9  (residues 1 to 1181)
  AUTHORS   Takada Y and Hemler ME.
  TITLE     The primary structure of the VLA-2/collagen receptor alpha 2
            subunit (platelet GPIa): homology to other integrins and the
            presence of a possible collagen-binding domain
  JOURNAL   J Cell Biol 109 (1), 397-407 (1989)
   PUBMED   2545729
REFERENCE   10 (residues 1 to 1181)
  AUTHORS   Nieuwenhuis,H.K., Akkerman,J.W., Houdijk,W.P. and Sixma,J.J.
  TITLE     Human blood platelets showing no response to collagen fail to
            express surface glycoprotein Ia
  JOURNAL   Nature 318 (6045), 470-472 (1985)
   PUBMED   2933589
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP280760.1, X17033.1,
            BE048389.1, BM828183.1, AU126174.1, AC008966.9, BF355124.1,
            DA545055.1, BP381403.1, DA343078.1, BM979113.1, CN272390.1,
            BG288116.1, BG494837.1, BG771368.1, CA442768.1 and CK904145.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 20, 2006 this sequence version replaced NP_002194.1.
            
            Summary: This gene encodes the alpha subunit of a transmembrane
            receptor for collagens and related proteins. The encoded protein
            forms a heterodimer with a beta subunit and mediates the adhesion
            of platelets and other cell types to the extracellular matrix. Loss
            of the encoded protein is associated with bleeding disorder
            platelet-type 9. Antibodies against this protein are found in
            several immune disorders, including neonatal alloimmune
            thrombocytopenia. This gene is located adjacent to a related alpha
            subunit gene. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (1) encodes the functional
            protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X17033.1, AK307952.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296585.10/ ENSP00000296585.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1181
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q11.2"
     Protein         1..1181
                     /product="integrin alpha-2 precursor"
                     /note="very late activation protein 2 receptor, alpha-2
                     subunit; platelet antigen Br; platelet glycoprotein GPIa;
                     collagen receptor; CD49 antigen-like family member B;
                     platelet membrane glycoprotein Ia; human platelet
                     alloantigen system 5; integrin, alpha 2 (CD49B, alpha 2
                     subunit of VLA-2 receptor); alpha 2 integrin; very late
                     activation receptor alpha-2 subunit; human platelet
                     alloantigen 5; very late activation receptor subunit
                     alpha-2"
                     /calculated_mol_wt=126379
     sig_peptide     1..29
                     /note="/evidence=ECO:0000269|PubMed:2545729; propagated
                     from UniProtKB/Swiss-Prot (P17301.2)"
                     /calculated_mol_wt=2936
     mat_peptide     30..1181
                     /product="Integrin alpha-2. /id=PRO_0000016233"
                     /note="propagated from UniProtKB/Swiss-Prot (P17301.2)"
                     /calculated_mol_wt=126379
     Region          34..92
                     /region_name="FG-GAP 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
                     /note="propagated from UniProtKB/Swiss-Prot (P17301.2)"
     Region          47..95
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          101..161
                     /region_name="FG-GAP 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
                     /note="propagated from UniProtKB/Swiss-Prot (P17301.2)"
     Site            105
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17301.2)"
     Site            112
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17301.2)"
     Region          173..353
                     /region_name="vWA_integrins_alpha_subunit"
                     /note="Integrins are a class of adhesion receptors that
                     link the extracellular matrix to the cytoskeleton and
                     cooperate with growth factor receptors to promote celll
                     survival, cell cycle progression and cell migration.
                     Integrins consist of an alpha and a beta...; cd01469"
                     /db_xref="CDD:238746"
     Site            order(173,175,194,277,279,307,342)
                     /site_type="active"
                     /note="integrin inhibitor binding pocket [active]"
                     /db_xref="CDD:238746"
     Site            order(180,182,184,250,283)
                     /site_type="other"
                     /note="metal ion-dependent adhesion site (MIDAS)"
                     /db_xref="CDD:238746"
     Site            order(182..184,186,250)
                     /site_type="active"
                     /note="integrin-collagen binding site [active]"
                     /db_xref="CDD:238746"
     Site            343
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16263699,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19349973;
                     propagated from UniProtKB/Swiss-Prot (P17301.2)"
     Region          366..420
                     /region_name="FG-GAP 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
                     /note="propagated from UniProtKB/Swiss-Prot (P17301.2)"
     Region          423..475
                     /region_name="FG-GAP 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
                     /note="propagated from UniProtKB/Swiss-Prot (P17301.2)"
     Site            432
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17301.2)"
     Region          433..475
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Site            460
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17301.2)"
     Site            475
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17301.2)"
     Region          477..539
                     /region_name="FG-GAP 5.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
                     /note="propagated from UniProtKB/Swiss-Prot (P17301.2)"
     Region          487..>532
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          540..598
                     /region_name="FG-GAP 6.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
                     /note="propagated from UniProtKB/Swiss-Prot (P17301.2)"
     Region          551..604
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          602..664
                     /region_name="FG-GAP 7.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
                     /note="propagated from UniProtKB/Swiss-Prot (P17301.2)"
     Region          614..>642
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          655..1060
                     /region_name="Integrin_alpha2"
                     /note="Integrin alpha; pfam08441"
                     /db_xref="CDD:430000"
     Site            699
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17301.2)"
     Site            1057
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17301.2)"
     Site            1074
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17301.2)"
     Site            1081
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P17301.2)"
     Site            1133..1154
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P17301.2)"
     Region          1155..1161
                     /region_name="Interaction with HPS5"
                     /note="propagated from UniProtKB/Swiss-Prot (P17301.2)"
     Region          1157..1161
                     /region_name="GFFKR motif"
                     /note="propagated from UniProtKB/Swiss-Prot (P17301.2)"
     CDS             1..1181
                     /gene="ITGA2"
                     /gene_synonym="BR; CD49B; GPIa; HPA-5; VLA-2; VLAA2"
                     /coded_by="NM_002203.4:118..3663"
                     /db_xref="CCDS:CCDS3957.1"
                     /db_xref="GeneID:3673"
                     /db_xref="HGNC:HGNC:6137"
                     /db_xref="MIM:192974"
ORIGIN      
        1 mgpertgaap lplllvlals qgilncclay nvglpeakif sgpsseqfgy avqqfinpkg
       61 nwllvgspws gfpenrmgdv ykcpvdlsta tceklnlqts tsipnvtemk tnmslglilt
      121 rnmgtggflt cgplwaqqcg nqyyttgvcs dispdfqlsa sfspatqpcp slidvvvvcd
      181 esnsiypwda vknflekfvq gldigptktq vgliqyannp rvvfnlntyk tkeemivats
      241 qtsqyggdlt ntfgaiqyar kyaysaasgg rrsatkvmvv vtdgeshdgs mlkavidqcn
      301 hdnilrfgia vlgylnrnal dtknlikeik aiasiptery ffnvsdeaal lekagtlgeq
      361 ifsiegtvqg gdnfqmemsq vgfsadyssq ndilmlgavg afgwsgtivq ktshghlifp
      421 kqafdqilqd rnhssylgys vaaistgest hfvagapran ytgqivlysv nengnitviq
      481 ahrgdqigsy fgsvlcsvdv dkdtitdvll vgapmymsdl kkeegrvylf tikegilgqh
      541 qflegpegie ntrfgsaiaa lsdinmdgfn dvivgsplen qnsgavyiyn ghqgtirtky
      601 sqkilgsdga frshlqyfgr sldgygdlng dsitdvsiga fgqvvqlwsq siadvaieas
      661 ftpekitlvn knaqiilklc fsakfrptkq nnqvaivyni tldadgfssr vtsrglfken
      721 nerclqknmv vnqaqscpeh iiyiqepsdv vnsldlrvdi slenpgtspa leaysetakv
      781 fsipfhkdcg edglcisdlv ldvrqipaaq eqpfivsnqn krltfsvtlk nkresayntg
      841 ivvdfsenlf fasfslpvdg tevtcqvaas qksvacdvgy palkreqqvt ftinfdfnlq
      901 nlqnqaslsf qalsesqeen kadnlvnlki pllydaeihl trstninfye issdgnvpsi
      961 vhsfedvgpk fifslkvttg svpvsmatvi ihipqytkek nplmyltgvq tdkagdiscn
     1021 adinplkigq tsssvsfkse nfrhtkelnc rtascsnvtc wlkdvhmkge yfvnvttriw
     1081 ngtfasstfq tvqltaaaei ntynpeiyvi edntvtiplm imkpdekaev ptgviigsii
     1141 agillllalv ailwklgffk rkyekmtknp deidettels s
//
LOCUS       NP_004372                703 aa            linear   PRI 26-FEB-2023
DEFINITION  cyclic AMP-dependent transcription factor ATF-6 beta isoform a
            [Homo sapiens].
ACCESSION   NP_004372
VERSION     NP_004372.3
DBSOURCE    REFSEQ: accession NM_004381.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 703)
  AUTHORS   Jin S, Jin B, Ishikawa T, Ninagawa S, Okada T, Koyasu S, Harada H
            and Mori K.
  TITLE     Loss of ATF6alpha in a human carcinoma cell line is compensated not
            by its paralogue ATF6beta but by sustained activation of the IRE1
            and PERK arms for tumor growth in nude mice
  JOURNAL   Mol Biol Cell 34 (3), ar20 (2023)
   PUBMED   36696173
  REMARK    GeneRIF: Loss of ATF6alpha in a human carcinoma cell line is
            compensated not by its paralogue ATF6beta but by sustained
            activation of the IRE1 and PERK arms for tumor growth in nude mice.
REFERENCE   2  (residues 1 to 703)
  AUTHORS   Hien LT and Back SH.
  TITLE     Establishment of a reporter system for monitoring activation of the
            ER stress transducer ATF6beta
  JOURNAL   Biochem Biophys Res Commun 558, 1-7 (2021)
   PUBMED   33894672
  REMARK    GeneRIF: Establishment of a reporter system for monitoring
            activation of the ER stress transducer ATF6beta.
REFERENCE   3  (residues 1 to 703)
  AUTHORS   Moudi M, Sargazi S, Heidari Nia M, Saravani R, Shirvaliloo M and
            Shakiba M.
  TITLE     Polymorphism in the 3'-UTR of LIF but Not in the ATF6B Gene
            Associates with Schizophrenia Susceptibility: a Case-Control Study
            and In Silico Analyses
  JOURNAL   J Mol Neurosci 70 (12), 2093-2101 (2020)
   PUBMED   32504404
  REMARK    GeneRIF: Polymorphism in the 3'-UTR of LIF but Not in the ATF6B
            Gene Associates with Schizophrenia Susceptibility: a Case-Control
            Study and In Silico Analyses.
REFERENCE   4  (residues 1 to 703)
  AUTHORS   Stauffer WT, Arrieta A, Blackwood EA and Glembotski CC.
  TITLE     Sledgehammer to Scalpel: Broad Challenges to the Heart and Other
            Tissues Yield Specific Cellular Responses via Transcriptional
            Regulation of the ER-Stress Master Regulator ATF6alpha
  JOURNAL   Int J Mol Sci 21 (3), 1134 (2020)
   PUBMED   32046286
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 703)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (residues 1 to 703)
  AUTHORS   Yoshida H, Haze K, Yanagi H, Yura T and Mori K.
  TITLE     Identification of the cis-acting endoplasmic reticulum stress
            response element responsible for transcriptional induction of
            mammalian glucose-regulated proteins. Involvement of basic leucine
            zipper transcription factors
  JOURNAL   J Biol Chem 273 (50), 33741-33749 (1998)
   PUBMED   9837962
  REMARK    Erratum:[J Biol Chem 1999 Jan 22;274(4):2592]
REFERENCE   7  (residues 1 to 703)
  AUTHORS   Speek M, Barry F and Miller WL.
  TITLE     Alternate promoters and alternate splicing of human tenascin-X, a
            gene with 5' and 3' ends buried in other genes
  JOURNAL   Hum Mol Genet 5 (11), 1749-1758 (1996)
   PUBMED   8923003
REFERENCE   8  (residues 1 to 703)
  AUTHORS   Khanna A and Campbell RD.
  TITLE     The gene G13 in the class III region of the human MHC encodes a
            potential DNA-binding protein
  JOURNAL   Biochem J 319 (Pt 1) (Pt 1), 81-89 (1996)
   PUBMED   8870652
REFERENCE   9  (residues 1 to 703)
  AUTHORS   Min J, Shukla H, Kozono H, Bronson SK, Weissman SM and Chaplin DD.
  TITLE     A novel Creb family gene telomeric of HLA-DRA in the HLA complex
  JOURNAL   Genomics 30 (2), 149-156 (1995)
   PUBMED   8586413
REFERENCE   10 (residues 1 to 703)
  AUTHORS   Bristow J, Tee MK, Gitelman SE, Mellon SH and Miller WL.
  TITLE     Tenascin-X: a novel extracellular matrix protein encoded by the
            human XB gene overlapping P450c21B
  JOURNAL   J Cell Biol 122 (1), 265-278 (1993)
   PUBMED   7686164
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL662884.11, X98054.1 and
            BC077075.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 14, 2002 this sequence version replaced NP_004372.2.
            
            Summary: The protein encoded by this gene is a transcription factor
            in the unfolded protein response (UPR) pathway during ER stress.
            Either as a homodimer or as a heterodimer with ATF6-alpha, the
            encoded protein binds to the ER stress response element,
            interacting with nuclear transcription factor Y to activate UPR
            target genes. The protein is normally found in the membrane of the
            endoplasmic reticulum; however, under ER stress, the N-terminal
            cytoplasmic domain is cleaved from the rest of the protein and
            translocates to the nucleus. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC077075.1, X98054.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375203.8/ ENSP00000364349.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..703
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.32"
     Protein         1..703
                     /product="cyclic AMP-dependent transcription factor ATF-6
                     beta isoform a"
                     /note="Creb-related protein; cyclic AMP-dependent
                     transcription factor ATF-6 beta; protein G13;
                     cAMP-dependent transcription factor ATF-6 beta;
                     cAMP-responsive element-binding protein-like 1; cAMP
                     response element-binding protein-related protein"
                     /calculated_mol_wt=76578
     Region          2..86
                     /region_name="Transcription activation"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99941.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q99941.2)"
     Region          87..114
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99941.2)"
     Region          229..248
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99941.2)"
     Region          293..317
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99941.2)"
     Region          327..347
                     /region_name="Basic motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00978"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99941.2)"
     Region          328..379
                     /region_name="bZIP_ATF6"
                     /note="Basic leucine zipper (bZIP) domain of Activating
                     Transcription Factor-6 (ATF-6) and similar proteins: a
                     DNA-binding and dimerization domain; cd14700"
                     /db_xref="CDD:269848"
     Region          328..379
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:269848"
     Site            order(331..332,334..336,338..343,345..347)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:269848"
     Site            order(346,349..350,353..354,356..357,360..361,363..364,
                     367..368,370..371,374..375,377..378)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:269848"
     Region          350..357
                     /region_name="Leucine-zipper.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00978"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99941.2)"
     Site            397..417
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99941.2)"
     Site            410
                     /site_type="other"
                     /note="Important for cleavage by MBTPS2.
                     /evidence=ECO:0000250|UniProtKB:P18850; propagated from
                     UniProtKB/Swiss-Prot (Q99941.2)"
     Site            413
                     /site_type="other"
                     /note="Important for cleavage by MBTPS2.
                     /evidence=ECO:0000250|UniProtKB:P18850; propagated from
                     UniProtKB/Swiss-Prot (Q99941.2)"
     Site            440..441
                     /site_type="cleavage"
                     /note="Cleavage, by MBTPS1.
                     /evidence=ECO:0000250|UniProtKB:P18850; propagated from
                     UniProtKB/Swiss-Prot (Q99941.2)"
     Region          447..479
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99941.2)"
     Site            476
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q99941.2)"
     Site            505
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q99941.2)"
     Region          521..565
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99941.2)"
     Site            610
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q99941.2)"
     Site            627
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q99941.2)"
     Region          660..703
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99941.2)"
     Site            676
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q99941.2)"
     CDS             1..703
                     /gene="ATF6B"
                     /gene_synonym="CREB-RP; CREBL1; G13"
                     /coded_by="NM_004381.5:40..2151"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS4737.1"
                     /db_xref="GeneID:1388"
                     /db_xref="HGNC:HGNC:2349"
                     /db_xref="MIM:600984"
ORIGIN      
        1 maelmllsei adptrfftdn llspedwglq nstlysglde vaeeqtqlfr cpeqdvpfdg
       61 ssldvgmdvs pseppwellp ifpdlqvkse psspcssssl ssessrlste pssealgvge
      121 vlhvktesla pplcllgddp tssfetvqin viptsddssd vqtkiepvsp cssvnseasl
      181 lsadsssqaf igeevlevkt eslspsgcll wdvpapslga vqismgpsld gssgkalptr
      241 kpplqpkpvv lttvpmpsra vppsttvllq slvqpppvsp vvliqgairv qpegpapslp
      301 rperksivpa pmpgnscppe vdakllkrqq rmiknresac qsrrkkkeyl qglearlqav
      361 ladnqqlrre naalrrrlea llaenselkl gsgnrkvvci mvfllfiafn fgpvsisepp
      421 sapisprmnk gepqprrhll gfseqepvqg veplqgssqg pkepqpsptd qpsfsnltaf
      481 pggakelllr dldqlflssd crhfnrtesl rladelsgwv qrhqrgrrki pqraqerqks
      541 qprkksppvk avpiqppgpp erdsvgqlql yrhpdrsqpa fldaidrred tfyvvsfrrd
      601 hlllpaishn ktsrpkmslv mpamapnetl sgrgapgdye emmqiecevm dtrvihikts
      661 tvppslrkqp sptpgnatgg plpvsaasqa hqashqplyl nhp
//
LOCUS       NP_009105               2027 aa            linear   PRI 15-MAR-2023
DEFINITION  citron Rho-interacting kinase isoform 2 [Homo sapiens].
ACCESSION   NP_009105
VERSION     NP_009105.1
DBSOURCE    REFSEQ: accession NM_007174.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2027)
  AUTHORS   Liu Z, Yang Y, Yang Z, Xia S, Lin D, Xiao B and Xiu Y.
  TITLE     Novel circRNA_0071196/miRNA-19b-3p/CIT axis is associated with
            proliferation and migration of bladder cancer
  JOURNAL   Int J Oncol 57 (3), 767-779 (2020)
   PUBMED   32705161
  REMARK    GeneRIF: Novel circRNA_0071196/miRNA19b3p/CIT axis is associated
            with proliferation and migration of bladder cancer.
REFERENCE   2  (residues 1 to 2027)
  AUTHORS   Liu Z, Yan H, Yang Y, Wei L, Xia S and Xiu Y.
  TITLE     Down-regulation of CIT can inhibit the growth of human bladder
            cancer cells
  JOURNAL   Biomed Pharmacother 124, 109830 (2020)
   PUBMED   31972359
  REMARK    GeneRIF: Down-regulation of CIT can inhibit the growth of human
            bladder cancer cells.
REFERENCE   3  (residues 1 to 2027)
  AUTHORS   Sahin I, Kawano Y, Sklavenitis-Pistofidis R, Moschetta M, Mishima
            Y, Manier S, Sacco A, Carrasco R, Fonseca R, Roccaro AM, Witzig T
            and Ghobrial IM.
  TITLE     Citron Rho-interacting kinase silencing causes cytokinesis failure
            and reduces tumor growth in multiple myeloma
  JOURNAL   Blood Adv 3 (7), 995-1002 (2019)
   PUBMED   30940634
  REMARK    GeneRIF: gene expression profile data set showed that MM patients
            with high CIT gene expression had significantly worse overall
            survival compared with MM patients with low CIT gene expression.
            CIT silencing in MM cell lines induced cytokinesis failure and
            resulted in decreased MM cell proliferation in vitro and in vivo.
REFERENCE   4  (residues 1 to 2027)
  AUTHORS   Fu Y, Huang J, Wang KS, Zhang X and Han ZG.
  TITLE     RNA interference targeting CITRON can significantly inhibit the
            proliferation of hepatocellular carcinoma cells
  JOURNAL   Mol Biol Rep 38 (2), 693-702 (2011)
   PUBMED   20369383
  REMARK    GeneRIF: CITRON has a role in proliferation of hepatocellular
            carcinoma cells
REFERENCE   5  (residues 1 to 2027)
  AUTHORS   Nicodemus KK, Callicott JH, Higier RG, Luna A, Nixon DC, Lipska BK,
            Vakkalanka R, Giegling I, Rujescu D, St Clair D, Muglia P, Shugart
            YY and Weinberger DR.
  TITLE     Evidence of statistical epistasis between DISC1, CIT and NDEL1
            impacting risk for schizophrenia: biological validation with
            functional neuroimaging
  JOURNAL   Hum Genet 127 (4), 441-452 (2010)
   PUBMED   20084519
  REMARK    GeneRIF: Evidence of statistical epistasis between DISC1, CIT and
            NDEL1 impacting risk for schizophrenia: biological validation with
            functional neuroimaging.
            GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
            Erratum:[Hum Genet. 2010 Apr;127(4):453-4]
REFERENCE   6  (residues 1 to 2027)
  AUTHORS   Gruneberg U, Neef R, Li X, Chan EH, Chalamalasetty RB, Nigg EA and
            Barr FA.
  TITLE     KIF14 and citron kinase act together to promote efficient
            cytokinesis
  JOURNAL   J Cell Biol 172 (3), 363-372 (2006)
   PUBMED   16431929
  REMARK    GeneRIF: During cytokinesis, the localization of KIF14 and citron
            kinase to the central spindle and midbody is codependent, and they
            form a complex depending on the activation state of citron kinase.
REFERENCE   7  (residues 1 to 2027)
  AUTHORS   Lyons-Warren,A., Chang,J.J., Balkissoon,R., Kamiya,A., Garant,M.,
            Nurnberger,J., Scheftner,W., Reich,T., McMahon,F., Kelsoe,J.,
            Gershon,E., Coryell,W., Byerley,W., Berrettini,W., Depaulo,R.,
            McInnis,M. and Sawa,A.
  TITLE     Evidence of association between bipolar disorder and Citron on
            chromosome 12q24
  JOURNAL   Mol Psychiatry 10 (9), 807-809 (2005)
   PUBMED   15983625
  REMARK    GeneRIF: Single nucleotide polymorphisms associated with bipolar
            disorder.
            Erratum:[Mol Psychiatry. 2006 Jun;11(6):612]
REFERENCE   8  (residues 1 to 2027)
  AUTHORS   Husi H, Ward MA, Choudhary JS, Blackstock WP and Grant SG.
  TITLE     Proteomic analysis of NMDA receptor-adhesion protein signaling
            complexes
  JOURNAL   Nat Neurosci 3 (7), 661-669 (2000)
   PUBMED   10862698
REFERENCE   9  (residues 1 to 2027)
  AUTHORS   Zhang W, Vazquez L, Apperson M and Kennedy MB.
  TITLE     Citron binds to PSD-95 at glutamatergic synapses on inhibitory
            neurons in the hippocampus
  JOURNAL   J Neurosci 19 (1), 96-108 (1999)
   PUBMED   9870942
REFERENCE   10 (residues 1 to 2027)
  AUTHORS   Madaule P, Furuyashiki T, Reid T, Ishizaki T, Watanabe G, Morii N
            and Narumiya S.
  TITLE     A novel partner for the GTP-bound forms of rho and rac
  JOURNAL   FEBS Lett 377 (2), 243-248 (1995)
   PUBMED   8543060
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004813.2, AY681966.1 and
            AY257469.1.
            
            Summary: This gene encodes a serine/threonine-protein kinase that
            functions in cell division. Together with the kinesin KIF14, this
            protein localizes to the central spindle and midbody, and functions
            to promote efficient cytokinesis. This protein is involved in
            central nervous system development. Polymorphisms in this gene are
            associated with bipolar disorder and risk for schizophrenia.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            coding region, compared to variant 1. This results in a shorter
            protein (isoform 2), compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY257469.1, SRR18074969.2394554.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2027
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.23"
     Protein         1..2027
                     /product="citron Rho-interacting kinase isoform 2"
                     /EC_number="2.7.11.1"
                     /note="serine/threonine-protein kinase 21; citron
                     (rho-interacting, serine/threonine kinase 21)"
                     /calculated_mol_wt=231301
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O14578.2)"
     Region          95..422
                     /region_name="STKc_CRIK"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Citron Rho-interacting kinase; cd05601"
                     /db_xref="CDD:270752"
     Site            order(103..107,111,124,126,158,174..175,177,181,183,221,
                     223,225..226,228,238..239,242,257..262,295,301,304)
                     /site_type="active"
                     /db_xref="CDD:270752"
     Site            order(103..107,111,124,126,158,175..177,181,221,223,
                     225..226,228,238..239)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270752"
     Site            order(107,181,183,221,223,225,242,257..262,295,301,304)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270752"
     Site            238..262
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270752"
     Site            416..421
                     /site_type="other"
                     /note="hydrophobic motif (HM)"
                     /db_xref="CDD:270752"
     Site            433
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14578.2)"
     Site            440
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O14578.2)"
     Region          <445..1154
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Site            480
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14578.2)"
     Site            582
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14578.2)"
     Region          1022..>1315
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          1091..1302
                     /region_name="Interaction with Rho/Rac"
                     /note="propagated from UniProtKB/Swiss-Prot (O14578.2)"
     Site            1196
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P49025; propagated from
                     UniProtKB/Swiss-Prot (O14578.2)"
     Region          1290..1310
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14578.2)"
     Region          1322..1351
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14578.2)"
     Region          1359..1414
                     /region_name="CRIK"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in citron Rho-interacting kinase (CRIK) and similar
                     proteins; cd20814"
                     /db_xref="CDD:410364"
     Region          1444..1563
                     /region_name="PH"
                     /note="PH domain; pfam00169"
                     /db_xref="CDD:395117"
     Region          1593..1889
                     /region_name="CNH"
                     /note="Domain found in NIK1-like kinases, mouse citron and
                     yeast ROM1, ROM2; smart00036"
                     /db_xref="CDD:214481"
     Site            1721
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O14578.2)"
     Region          1905..2012
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14578.2)"
     Site            1940
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14578.2)"
     Region          1953..1958
                     /region_name="SH3-binding. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O14578.2)"
     Site            1993
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14578.2)"
     Site            2013
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14578.2)"
     CDS             1..2027
                     /gene="CIT"
                     /gene_synonym="CITK; CRIK; MCPH17; STK21"
                     /coded_by="NM_007174.3:86..6169"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS9192.1"
                     /db_xref="GeneID:11113"
                     /db_xref="HGNC:HGNC:1985"
                     /db_xref="MIM:605629"
ORIGIN      
        1 mlkfkygarn pldagaaepi asrasrlnlf fqgkppfmtq qqmsplsreg ildalfvlfe
       61 ecsqpalmki khvsnfvrky sdtiaelqel qpsakdfevr slvgcghfae vqvvrekatg
      121 diyamkvmkk kallaqeqvs ffeeernils rstspwipql qyafqdknhl ylvmeyqpgg
      181 dllsllnrye dqldenliqf ylaelilavh svhlmgyvhr dikpenilvd rtghiklvdf
      241 gsaakmnsnk mvnaklpigt pdymapevlt vmngdgkgty gldcdwwsvg viayemiygr
      301 spfaegtsar tfnnimnfqr flkfpddpkv ssdfldliqs llcgqkerlk feglcchpff
      361 skidwnnirn spppfvptlk sdddtsnfde peknswvsss pcqlspsgfs geelpfvgfs
      421 yskalgilgr sesvvsglds paktssmekk llikskelqd sqdkchkmeq emtrlhrrvs
      481 eveavlsqke velkasetqr slleqdlaty itecsslkrs leqarmevsq eddkalqllh
      541 direqsrklq eikeqeyqaq veemrlmmnq leedlvsarr rsdlyeselr esrlaaeefk
      601 rkatecqhkl lkakdqgkpe vgeyakleki naeqqlkiqe lqeklekavk asteatellq
      661 nirqakerae releklqnre dssegirkkl veaeeleekh reaqvsaqhl evhlkqkeqh
      721 yeekikvldn qikkdladke tlenmmqrhe eeahekgkil seqkaminam dskirsleqr
      781 ivelseankl aansslftqr nmkaqeemis elrqqkfyle tqagkleaqn rkleeqleki
      841 shqdhsdknr lleletrlre vsleheeqkl elkrqltelq lslqeresql talqaaraal
      901 esqlrqakte leettaeaee eiqaltahrd eiqrkfdalr nsctvitdle eqlnqltedn
      961 aelnnqnfyl skqldeasga ndeivqlrse vdhlrreite remqltsqkq tmealkttct
     1021 mleeqvmdle alndelleke rqweawrsvl gdeksqfecr vrelqrmldt ekqsraradq
     1081 ritesrqvve lavkehkaei lalqqalkeq klkaeslsdk lndlekkham lemnarslqq
     1141 kleterelkq rlleeqaklq qqmdlqknhi frltqglqea ldradllkte rsdleyqlen
     1201 iqvlyshekv kmegtisqqt klidflqakm dqpakkkkgl fsrrkedpal ptqvplqyne
     1261 lklalekeka rcaeleealq ktrielrsar eeaahrkatd hphpstpata rqqiamsaiv
     1321 rspehqpsam sllappssrr kesstpeefs rrlkermhhn iphrfnvgln mratkcavcl
     1381 dtvhfgrqas kclecqvmch pkcstclpat cglpaeyath fteafcrdkm nspglqtkep
     1441 ssslhlegwm kvprnnkrgq qgwdrkyivl egskvliydn eareagqrpv eefelclpdg
     1501 dvsihgavga selantakad vpyilkmesh phttcwpgrt lyllapsfpd kqrwvtales
     1561 vvaggrvsre kaeadakllg nsllklegdd rldmnctlpf sdqvvlvgte eglyalnvlk
     1621 nslthvpgig avfqiyiikd lekllmiage eralclvdvk kvkqslaqsh lpaqpdispn
     1681 ifeavkgchl fgagkiengl cicaampskv vilrynenls kycirkeiet sepcscihft
     1741 nysiligtnk fyeidmkqyt leefldkndh slapavfaas snsfpvsivq vnsagqreey
     1801 llcfhefgvf vdsygrrsrt ddlkwsrlpl afayrepylf vthfnslevi eiqarssagt
     1861 parayldipn prylgpaiss gaiylassyq dklrvicckg nlvkesgteh hrgpstsrss
     1921 pnkrgpptyn ehitkrvass pappegpshp repstphryr egrtelrrdk spgrplerek
     1981 spgrmlstrr erspgrlfed ssrgrlpaga vrtplsqvnk vwdqssv
//
LOCUS       NP_001350625             376 aa            linear   PRI 15-MAR-2023
DEFINITION  legumain isoform 2 precursor [Homo sapiens].
ACCESSION   NP_001350625 XP_016876955
VERSION     NP_001350625.1
DBSOURCE    REFSEQ: accession NM_001363696.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 376)
  AUTHORS   Xu X, Liu M, Peng K, Yu Y and Liu T.
  TITLE     Asparaginyl endopeptidase contributes to cetuximab resistance via
            MEK/ERK signaling in RAS wide-type metastatic colorectal cancer
  JOURNAL   Clin Transl Oncol 25 (3), 776-785 (2023)
   PUBMED   36609651
  REMARK    GeneRIF: Asparaginyl endopeptidase contributes to cetuximab
            resistance via MEK/ERK signaling in RAS wide-type metastatic
            colorectal cancer.
REFERENCE   2  (residues 1 to 376)
  AUTHORS   Tu W, Qin M, Li Y, Wu W and Tong X.
  TITLE     Metformin regulates autophagy via LGMN to inhibit choriocarcinoma
  JOURNAL   Gene 853, 147090 (2023)
   PUBMED   36464174
  REMARK    GeneRIF: Metformin regulates autophagy via LGMN to inhibit
            choriocarcinoma.
REFERENCE   3  (residues 1 to 376)
  AUTHORS   Kovalyova Y, Bak DW, Gordon EM, Fung C, Shuman JHB, Cover TL,
            Amieva MR, Weerapana E and Hatzios SK.
  TITLE     An infection-induced oxidation site regulates legumain processing
            and tumor growth
  JOURNAL   Nat Chem Biol 18 (7), 698-705 (2022)
   PUBMED   35332331
  REMARK    GeneRIF: An infection-induced oxidation site regulates legumain
            processing and tumor growth.
REFERENCE   4  (residues 1 to 376)
  AUTHORS   Pan L, Bai P, Weng X, Liu J, Chen Y, Chen S, Ma X, Hu K, Sun A and
            Ge J.
  TITLE     Legumain Is an Endogenous Modulator of Integrin alphavbeta3
            Triggering Vascular Degeneration, Dissection, and Rupture
  JOURNAL   Circulation 145 (9), 659-674 (2022)
   PUBMED   35100526
  REMARK    GeneRIF: Legumain Is an Endogenous Modulator of Integrin
            alphavbeta3 Triggering Vascular Degeneration, Dissection, and
            Rupture.
REFERENCE   5  (residues 1 to 376)
  AUTHORS   Clees AS, Stolp V, Haupl B, Fuhrmann DC, Wempe F, Seibert M, Weber
            S, Banning A, Tikkanen R, Williams R, Brune B, Serve H, Schnutgen
            F, von Metzler I and Kurrle N.
  TITLE     Identification of the Cysteine Protease Legumain as a Potential
            Chronic Hypoxia-Specific Multiple Myeloma Target Gene
  JOURNAL   Cells 11 (2), 292 (2022)
   PUBMED   35053409
  REMARK    GeneRIF: Identification of the Cysteine Protease Legumain as a
            Potential Chronic Hypoxia-Specific Multiple Myeloma Target Gene.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 376)
  AUTHORS   Halfon S, Patel S, Vega F, Zurawski S and Zurawski G.
  TITLE     Autocatalytic activation of human legumain at aspartic acid
            residues
  JOURNAL   FEBS Lett 438 (1-2), 114-118 (1998)
   PUBMED   9821970
REFERENCE   7  (residues 1 to 376)
  AUTHORS   Chen JM, Dando PM, Stevens RA, Fortunato M and Barrett AJ.
  TITLE     Cloning and expression of mouse legumain, a lysosomal endopeptidase
  JOURNAL   Biochem J 335 (Pt 1) (Pt 1), 111-117 (1998)
   PUBMED   9742219
REFERENCE   8  (residues 1 to 376)
  AUTHORS   Chen JM, Dando PM, Rawlings ND, Brown MA, Young NE, Stevens RA,
            Hewitt E, Watts C and Barrett AJ.
  TITLE     Cloning, isolation, and characterization of mammalian legumain, an
            asparaginyl endopeptidase
  JOURNAL   J Biol Chem 272 (12), 8090-8098 (1997)
   PUBMED   9065484
REFERENCE   9  (residues 1 to 376)
  AUTHORS   Tanaka T, Inazawa J and Nakamura Y.
  TITLE     Molecular cloning of a human cDNA encoding putative cysteine
            protease (PRSC1) and its chromosome assignment to 14q32.1
  JOURNAL   Cytogenet Cell Genet 74 (1-2), 120-123 (1996)
   PUBMED   8893817
REFERENCE   10 (residues 1 to 376)
  AUTHORS   Friedman,J. and Razin,A.
  TITLE     Studies on the biological role of DNA methylation. II. Role of
            phiX174 DNA methylation in the process of viral progeny DNA
            synthesis
  JOURNAL   Nucleic Acids Res 3 (10), 2665-2675 (1976)
   PUBMED   136644
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL132987.4 and AL136332.5.
            On May 30, 2018 this sequence version replaced XP_016876955.1.
            
            Summary: This gene encodes a cysteine protease that has a strict
            specificity for hydrolysis of asparaginyl bonds. This enzyme may be
            involved in the processing of bacterial peptides and endogenous
            proteins for MHC class II presentation in the lysosomal/endosomal
            systems. Enzyme activation is triggered by acidic pH and appears to
            be autocatalytic. Protein expression occurs after monocytes
            differentiate into dendritic cells. A fully mature, active enzyme
            is produced following lipopolysaccharide expression in mature
            dendritic cells. Overexpression of this gene may be associated with
            the majority of solid tumor types. This gene has a pseudogene on
            chromosome 13. Several alternatively spliced transcript variants
            have been described, but the biological validity of only two has
            been determined. These two variants encode the same isoform.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.618088.1,
                                           SRR14038196.1624311.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..376
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12"
     Protein         1..376
                     /product="legumain isoform 2 precursor"
                     /EC_number="3.4.22.34"
                     /note="protease, cysteine, 1 (legumain); cysteine protease
                     1; asparaginyl endopeptidase; protease, cysteine 1"
                     /calculated_mol_wt=41205
     sig_peptide     1..17
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1761
     Region          29..285
                     /region_name="Peptidase_C13"
                     /note="Peptidase C13 family; pfam01650"
                     /db_xref="CDD:396290"
     Region          309..372
                     /region_name="legumain_C"
                     /note="C-terminal prodomain of legumain; cd21115"
                     /db_xref="CDD:411051"
     CDS             1..376
                     /gene="LGMN"
                     /gene_synonym="AEP; LGMN1; PRSC1"
                     /coded_by="NM_001363696.2:287..1417"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS86424.1"
                     /db_xref="GeneID:5641"
                     /db_xref="HGNC:HGNC:9472"
                     /db_xref="MIM:602620"
ORIGIN      
        1 mvwkvavfls valgigavpi ddpedggkhw vvivagsngw ynyrhqadac hayqiihrng
       61 ipdeqivvmm yddiaysedn ptpgivinrp ngtdvyqgvp kdytgedvtp qnflavlrgd
      121 aeavkgigsg kvlksgpqdh vfiyftdhgs tgilvfpned lhvkdlneti hymykhkmyr
      181 kmvfyieace sgsmmnhlpd ninvyattaa npressyacy ydekrstylg dwysvnwmed
      241 sdvedltket lhkqyhlvks htntshvmqy gnktistmkv mqfqgmkrka sspvplppvt
      301 hldltpspdv pltimkrklm ntndleesrq lteeiqrhld yeyalrhlyv lvnlcekpyp
      361 lhriklsmdh vclghy
//
LOCUS       NP_001309832             206 aa            linear   PRI 16-MAR-2023
DEFINITION  synaptosomal-associated protein 25 isoform SNAP25B [Homo sapiens].
ACCESSION   NP_001309832
VERSION     NP_001309832.1
DBSOURCE    REFSEQ: accession NM_001322903.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 206)
  AUTHORS   Agostini S, Bolognesi E, Mancuso R, Marventano I, Citterio LA,
            Guerini FR and Clerici M.
  TITLE     miR-23a-3p and miR-181a-5p modulate SNAP-25 expression
  JOURNAL   PLoS One 18 (1), e0279961 (2023)
   PUBMED   36649268
  REMARK    GeneRIF: miR-23a-3p and miR-181a-5p modulate SNAP-25 expression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 206)
  AUTHORS   Fang D, Yang B, Wang P, Mo T, Gan Y, Liang G, Huang R and Zeng H.
  TITLE     Role of SNAP-25 MnlI variant in impaired working memory and brain
            functions in attention deficit/hyperactivity disorder
  JOURNAL   Brain Behav 12 (10), e2758 (2022)
   PUBMED   36068994
  REMARK    GeneRIF: Role of SNAP-25 MnlI variant in impaired working memory
            and brain functions in attention deficit/hyperactivity disorder.
REFERENCE   3  (residues 1 to 206)
  AUTHORS   Kivisakk P, Carlyle BC, Sweeney T, Quinn JP, Ramirez CE, Trombetta
            BA, Mendes M, Brock M, Rubel C, Czerkowicz J, Graham D and Arnold
            SE.
  TITLE     Increased levels of the synaptic proteins PSD-95, SNAP-25, and
            neurogranin in the cerebrospinal fluid of patients with Alzheimer's
            disease
  JOURNAL   Alzheimers Res Ther 14 (1), 58 (2022)
   PUBMED   35461266
  REMARK    GeneRIF: Increased levels of the synaptic proteins PSD-95, SNAP-25,
            and neurogranin in the cerebrospinal fluid of patients with
            Alzheimer's disease.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 206)
  AUTHORS   Jung Y, Lee SE, Kang I, Cho SM, Kang KS and Kwon HJ.
  TITLE     Upregulation of SNAP25 by HDAC inhibition ameliorates Niemann-Pick
            Type C disease phenotypes via autophagy induction
  JOURNAL   Clin Transl Med 12 (4), e776 (2022)
   PUBMED   35384385
  REMARK    GeneRIF: Upregulation of SNAP25 by HDAC inhibition ameliorates
            Niemann-Pick Type C disease phenotypes via autophagy induction.
REFERENCE   5  (residues 1 to 206)
  AUTHORS   Liu Q, Liu H, Zhang S, Yang Q, Shen L and Jiao B.
  TITLE     Cerebrospinal Fluid Synaptosomal-Associated Protein 25 Levels in
            Patients with Alzheimer's Disease: A Meta-Analysis
  JOURNAL   J Alzheimers Dis 89 (1), 121-132 (2022)
   PUBMED   35848017
  REMARK    GeneRIF: Cerebrospinal Fluid Synaptosomal-Associated Protein 25
            Levels in Patients with Alzheimer's Disease: A Meta-Analysis.
REFERENCE   6  (residues 1 to 206)
  AUTHORS   Hanson PI, Otto H, Barton N and Jahn R.
  TITLE     The N-ethylmaleimide-sensitive fusion protein and alpha-SNAP induce
            a conformational change in syntaxin
  JOURNAL   J Biol Chem 270 (28), 16955-16961 (1995)
   PUBMED   7622514
REFERENCE   7  (residues 1 to 206)
  AUTHORS   Hata Y and Sudhof TC.
  TITLE     A novel ubiquitous form of Munc-18 interacts with multiple
            syntaxins. Use of the yeast two-hybrid system to study interactions
            between proteins involved in membrane traffic
  JOURNAL   J Biol Chem 270 (22), 13022-13028 (1995)
   PUBMED   7768895
REFERENCE   8  (residues 1 to 206)
  AUTHORS   Chapman ER, An S, Barton N and Jahn R.
  TITLE     SNAP-25, a t-SNARE which binds to both syntaxin and synaptobrevin
            via domains that may form coiled coils
  JOURNAL   J Biol Chem 269 (44), 27427-27432 (1994)
   PUBMED   7961655
REFERENCE   9  (residues 1 to 206)
  AUTHORS   Zhao N, Hashida H, Takahashi N and Sakaki Y.
  TITLE     Cloning and sequence analysis of the human SNAP25 cDNA
  JOURNAL   Gene 145 (2), 313-314 (1994)
   PUBMED   8056350
REFERENCE   10 (residues 1 to 206)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354824.8 and AL023913.6.
            
            Summary: Synaptic vesicle membrane docking and fusion is mediated
            by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment
            protein receptors) located on the vesicle membrane (v-SNAREs) and
            the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE
            complex consists of a bundle of four helices, one of which is
            supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on
            the plasma membrane, the protein syntaxin supplies one helix and
            the protein encoded by this gene contributes the other two.
            Therefore, this gene product is a presynaptic plasma membrane
            protein involved in the regulation of neurotransmitter release. Two
            alternative transcript variants encoding different protein isoforms
            have been described for this gene. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.30274.1,
                                           SRR1803617.160891.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..206
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.2"
     Protein         1..206
                     /product="synaptosomal-associated protein 25 isoform
                     SNAP25B"
                     /note="resistance to inhibitors of cholinesterase 4
                     homolog; synaptosome associated protein 25kDa;
                     synaptosomal-associated protein, 25kDa"
                     /calculated_mol_wt=23184
     Region          1..75
                     /region_name="Interaction with CENPF.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P60880.1)"
     Region          1..23
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P60880.1)"
     Region          10..82
                     /region_name="SNARE_SNAP25N"
                     /note="N-terminal SNARE motif of SNAP25; cd15894"
                     /db_xref="CDD:277247"
     Site            order(24..25,28..29,31..33,35..40,42..44,46..47,49..50,
                     53..54,56..61,63..65,67..68,70..75,77..78)
                     /site_type="other"
                     /note="heterotetramer interface [polypeptide binding]"
                     /db_xref="CDD:277247"
     Site            53
                     /site_type="active"
                     /note="zero layer [active]"
                     /db_xref="CDD:277247"
     Region          91..142
                     /region_name="SNAP-25"
                     /note="SNAP-25 family; pfam00835"
                     /db_xref="CDD:425896"
     Region          111..120
                     /region_name="Interaction with ZDHHC17.
                     /evidence=ECO:0000269|PubMed:28757145"
                     /note="propagated from UniProtKB/Swiss-Prot (P60880.1)"
     Site            138
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P60879; propagated from
                     UniProtKB/Swiss-Prot (P60880.1)"
     Region          143..201
                     /region_name="SNARE_SNAP25C"
                     /note="C-terminal SNARE motif of SNAP25; cd15885"
                     /db_xref="CDD:277238"
     Site            order(143,145..146,149..154,156..157,160..161,163..165,
                     167..168,171..172,174..175,177..182,184..185,188,191,195,
                     198,201)
                     /site_type="other"
                     /note="heterotetramer interface [polypeptide binding]"
                     /db_xref="CDD:277238"
     Site            154
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P60879; propagated from
                     UniProtKB/Swiss-Prot (P60880.1)"
     Site            174
                     /site_type="other"
                     /note="zero layer"
                     /db_xref="CDD:277238"
     Site            180..181
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by C.botulinum
                     neurotoxin type E (BoNT/E).
                     /evidence=ECO:0000269|PubMed:9886085; propagated from
                     UniProtKB/Swiss-Prot (P60880.1)"
     Site            187
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P60879; propagated from
                     UniProtKB/Swiss-Prot (P60880.1)"
     Site            197..198
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by C.botulinum
                     neurotoxin type A (BoNT/A, botA).
                     /evidence=ECO:0000269|PubMed:9886085,
                     ECO:0000305|PubMed:15592454; propagated from
                     UniProtKB/Swiss-Prot (P60880.1)"
     Site            198..199
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by C.botulinum
                     neurotoxin type C (BoNT/C).
                     /evidence=ECO:0000269|PubMed:9886085,
                     ECO:0000305|PubMed:15592454; propagated from
                     UniProtKB/Swiss-Prot (P60880.1)"
     CDS             1..206
                     /gene="SNAP25"
                     /gene_synonym="bA416N4.2; CMS18; dJ1068F16.2; RIC-4; RIC4;
                     SEC9; SNAP; SNAP-25; SUP"
                     /coded_by="NM_001322903.2:339..959"
                     /note="isoform SNAP25B is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS13110.1"
                     /db_xref="GeneID:6616"
                     /db_xref="HGNC:HGNC:11132"
                     /db_xref="MIM:600322"
ORIGIN      
        1 maedadmrne leemqrradq ladeslestr rmlqlveesk dagirtlvml deqgeqleri
       61 eegmdqinkd mkeaeknltd lgkfcglcvc pcnklkssda ykkawgnnqd gvvasqparv
      121 vdereqmais ggfirrvtnd arenemdenl eqvsgiignl rhmaldmgne idtqnrqidr
      181 imekadsnkt rideanqrat kmlgsg
//
LOCUS       NP_001129412             314 aa            linear   PRI 16-MAR-2023
DEFINITION  myotilin isoform b [Homo sapiens].
ACCESSION   NP_001129412
VERSION     NP_001129412.1
DBSOURCE    REFSEQ: accession NM_001135940.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 314)
  AUTHORS   Lin ZJ, Xu JM, Ji HY, Jiang YQ, Su J, Fan LL and Yu R.
  TITLE     Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal
            Muscle Cells
  JOURNAL   Dis Markers 2023, 3350685 (2023)
   PUBMED   36776921
  REMARK    GeneRIF: Silencing MYOT Expression May Inhibit Autophagy in Human
            Skeletal Muscle Cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 314)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 314)
  AUTHORS   Puz V, Pavsic M, Lenarcic B and Djinovic-Carugo K.
  TITLE     Conformational plasticity and evolutionary analysis of the myotilin
            tandem Ig domains
  JOURNAL   Sci Rep 7 (1), 3993 (2017)
   PUBMED   28638118
  REMARK    GeneRIF: sequence conservation analysis of myotilin shed light on
            the molecular basis of myotilinopathies and revealed several motifs
            in Ig domains found also in I-band proteins.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 314)
  AUTHORS   Rudolf G, Suominen T, Penttila S, Hackman P, Evila A, Lannes B,
            Echaniz-Laguna A, Bierry G, Tranchant C and Udd B.
  TITLE     Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe)
            Mutation Causes a More Severe and Proximal Muscular Dystrophy
  JOURNAL   J Neuromuscul Dis 3 (2), 275-281 (2016)
   PUBMED   27854214
  REMARK    GeneRIF: A French family affected with a late onset proximal and
            distal muscle weakness and myofibrillar myopathy on muscle
            pathology, in which the siblings known to be clinically affected
            were homozygous for the c.179C>T (p.Ser60Phe) myotilin gene
            mutation is reported.
REFERENCE   5  (residues 1 to 314)
  AUTHORS   Salmikangas P, Mykkanen OM, Gronholm M, Heiska L, Kere J and Carpen
            O.
  TITLE     Myotilin, a novel sarcomeric protein with two Ig-like domains, is
            encoded by a candidate gene for limb-girdle muscular dystrophy
  JOURNAL   Hum Mol Genet 8 (7), 1329-1336 (1999)
   PUBMED   10369880
REFERENCE   6  (residues 1 to 314)
  AUTHORS   Bartoloni L, Horrigan SK, Viles KD, Gilchrist JM, Stajich JM, Vance
            JM, Yamaoka LH, Pericak-Vance MA, Westbrook CA and Speer MC.
  TITLE     Use of a CEPH meiotic breakpoint panel to refine the locus of
            limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval
            on 5q31
  JOURNAL   Genomics 54 (2), 250-255 (1998)
   PUBMED   9828127
REFERENCE   7  (residues 1 to 314)
  AUTHORS   Selcen,D. and Engel,A.G.
  TITLE     Myofibrillar Myopathy - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301672
REFERENCE   8  (residues 1 to 314)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   9  (residues 1 to 314)
  AUTHORS   Speer MC, Yamaoka LH, Gilchrist JH, Gaskell CP, Stajich JM, Vance
            JM, Kazantsev A, Lastra AA, Haynes CS, Beckmann JS et al.
  TITLE     Confirmation of genetic heterogeneity in limb-girdle muscular
            dystrophy: linkage of an autosomal dominant form to chromosome 5q
  JOURNAL   Am J Hum Genet 50 (6), 1211-1217 (1992)
   PUBMED   1598902
REFERENCE   10 (residues 1 to 314)
  AUTHORS   Dixon MJ, Read AP, Donnai D, Colley A, Dixon J and Williamson R.
  TITLE     The gene for Treacher Collins syndrome maps to the long arm of
            chromosome 5
  JOURNAL   Am J Hum Genet 49 (1), 17-22 (1991)
   PUBMED   1676560
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK300088.1 and AF133820.2.
            
            Summary: This gene encodes a cystoskeletal protein which plays a
            significant role in the stability of thin filaments during muscle
            contraction. This protein binds F-actin, crosslinks actin
            filaments, and prevents latrunculin A-induced filament disassembly.
            Mutations in this gene have been associated with limb-girdle
            muscular dystrophy and myofibrillar myopathies. Several
            alternatively spliced transcript variants of this gene have been
            described, but the full-length nature of some of these variants has
            not been determined.[provided by RefSeq, Oct 2008].
            
            Transcript Variant: This variant (2) has an alternate splice site
            in the 5' region, which results in translation initiation at a
            downstream start codon, compared to variant 1. The resulting
            isoform (b) has a shorter N-terminus, compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.32609.1, AK300088.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151741, SAMEA2154361
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..314
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     Protein         1..314
                     /product="myotilin isoform b"
                     /note="titin immunoglobulin domain protein (myotilin); 57
                     kDa cytoskeletal protein; myofibrillar titin-like Ig
                     domains protein"
                     /calculated_mol_wt=35016
     Region          66..156
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          83..87
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          96..100
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          122..126
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          136..141
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          149..152
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          165..256
                     /region_name="IgI_Myotilin_C"
                     /note="C-terminal immunoglobulin (Ig)-like domain of
                     myotilin; member of the I-set of Ig superfamily (IgSF)
                     domains; cd05892"
                     /db_xref="CDD:409473"
     Region          165..168
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409473"
     Region          171..176
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409473"
     Region          181..188
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409473"
     Region          195..201
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409473"
     Region          202..205
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409473"
     Region          212..218
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409473"
     Region          221..231
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409473"
     Region          235..243
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409473"
     Region          245..256
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409473"
     CDS             1..314
                     /gene="MYOT"
                     /gene_synonym="LGMD1; LGMD1A; MFM3; TTID; TTOD"
                     /coded_by="NM_001135940.2:376..1320"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS47268.1"
                     /db_xref="GeneID:9499"
                     /db_xref="HGNC:HGNC:12399"
                     /db_xref="MIM:604103"
ORIGIN      
        1 marrllgpqn aaavfqaqdd sgaqdsqqhn seharlqvpt sqvrsrstsr gdvndqdaiq
       61 ekfypprfiq vpenmsideg rfcrmdfkvs glpapdvswy lngrtvqsdd lhkmivsekg
      121 lhslifevvr asdagayacv aknrageatf tvqldvlake hkrapmfiyk pqskkvlegd
      181 svklecqisa ipppklfwkr nnemvqfntd rislyqdntg rvtllikdvn kkdagwytvs
      241 avneagvttc ntrldvtarp nqtlpapkql rvrptfskyl alngkglnvk qafnpegefq
      301 rlaaqsglye seel
//
LOCUS       NP_001018046             253 aa            linear   PRI 17-MAR-2023
DEFINITION  thyrotropin receptor isoform 2 [Homo sapiens].
ACCESSION   NP_001018046
VERSION     NP_001018046.1
DBSOURCE    REFSEQ: accession NM_001018036.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 253)
  AUTHORS   Shreder EV, Vadina TA, Solodovnikova EN, Zakharova VV, Degtyarev
            MV, Konyukhova MB, Sergeeva NV and Bezlepkina OB.
  TITLE     [Pathogenic TSHR variants in children with thyroid dysgenesis]
  JOURNAL   Probl Endokrinol (Mosk) 69 (1), 76-85 (2023)
   PUBMED   36842079
  REMARK    GeneRIF: [Pathogenic TSHR variants in children with thyroid
            dysgenesis].
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 253)
  AUTHORS   Whitmer D, Phay JE, Holt S, O'Donnell B, Nguyen J, Joseph D, Chi A,
            Wu S, Hao Y, Huang J, Klopper JP, Kloos RT, Kennedy GC and Shin J.
  TITLE     Risk of malignancy in cytologically indeterminate thyroid nodules
            harboring thyroid stimulating hormone receptor mutations
  JOURNAL   Front Endocrinol (Lausanne) 13, 1073592 (2022)
   PUBMED   36619548
  REMARK    GeneRIF: Risk of malignancy in cytologically indeterminate thyroid
            nodules harboring thyroid stimulating hormone receptor mutations.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 253)
  AUTHORS   Naghibi FS, Miresmaeili SM and Javid A.
  TITLE     Association of TSHR gene single nucleotide intronic polymorphism
            with the risk of hypothyroid and hyperthyroid disorders in Yazd
            province
  JOURNAL   Sci Rep 12 (1), 15745 (2022)
   PUBMED   36130976
  REMARK    GeneRIF: Association of TSHR gene single nucleotide intronic
            polymorphism with the risk of hypothyroid and hyperthyroid
            disorders in Yazd province.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 253)
  AUTHORS   Faust B, Billesbolle CB, Suomivuori CM, Singh I, Zhang K, Hoppe N,
            Pinto AFM, Diedrich JK, Muftuoglu Y, Szkudlinski MW, Saghatelian A,
            Dror RO, Cheng Y and Manglik A.
  TITLE     Autoantibody mimicry of hormone action at the thyrotropin receptor
  JOURNAL   Nature 609 (7928), 846-853 (2022)
   PUBMED   35940205
  REMARK    GeneRIF: Autoantibody mimicry of hormone action at the thyrotropin
            receptor.
REFERENCE   5  (residues 1 to 253)
  AUTHORS   Duan J, Xu P, Luan X, Ji Y, He X, Song N, Yuan Q, Jin Y, Cheng X,
            Jiang H, Zheng J, Zhang S, Jiang Y and Xu HE.
  TITLE     Hormone- and antibody-mediated activation of the thyrotropin
            receptor
  JOURNAL   Nature 609 (7928), 854-859 (2022)
   PUBMED   35940204
  REMARK    GeneRIF: Hormone- and antibody-mediated activation of the
            thyrotropin receptor.
REFERENCE   6  (residues 1 to 253)
  AUTHORS   Takeshita A, Nagayama Y, Fujiyama K, Yokoyama N, Namba H, Yamashita
            S, Izumi M and Nagataki S.
  TITLE     Molecular cloning and sequencing of an alternatively spliced form
            of the human thyrotropin receptor transcript
  JOURNAL   Biochem Biophys Res Commun 188 (3), 1214-1219 (1992)
   PUBMED   1445355
REFERENCE   7  (residues 1 to 253)
  AUTHORS   Graves PN, Tomer Y and Davies TF.
  TITLE     Cloning and sequencing of a 1.3 KB variant of human thyrotropin
            receptor mRNA lacking the transmembrane domain
  JOURNAL   Biochem Biophys Res Commun 187 (2), 1135-1143 (1992)
   PUBMED   1530609
REFERENCE   8  (residues 1 to 253)
  AUTHORS   Loosfelt H, Pichon C, Jolivet A, Misrahi M, Caillou B, Jamous M,
            Vannier B and Milgrom E.
  TITLE     Two-subunit structure of the human thyrotropin receptor
  JOURNAL   Proc Natl Acad Sci U S A 89 (9), 3765-3769 (1992)
   PUBMED   1570295
REFERENCE   9  (residues 1 to 253)
  AUTHORS   Nagayama Y, Russo D, Wadsworth HL, Chazenbalk GD and Rapoport B.
  TITLE     Eleven amino acids (Lys-201 to Lys-211) and 9 amino acids (Gly-222
            to Leu-230) in the human thyrotropin receptor are involved in
            ligand binding
  JOURNAL   J Biol Chem 266 (23), 14926-14930 (1991)
   PUBMED   1651314
REFERENCE   10 (residues 1 to 253)
  AUTHORS   Murakami M and Mori M.
  TITLE     Identification of immunogenic regions in human thyrotropin receptor
            for immunoglobulin G of patients with Graves' disease
  JOURNAL   Biochem Biophys Res Commun 171 (1), 512-518 (1990)
   PUBMED   1697467
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC024205.2 and BC063613.1.
            
            Summary: The protein encoded by this gene is a membrane protein and
            a major controller of thyroid cell metabolism. The encoded protein
            is a receptor for thyrothropin and thyrostimulin, and its activity
            is mediated by adenylate cyclase. Defects in this gene are a cause
            of several types of hyperthyroidism. Three transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2008].
            
            Transcript Variant: This variant (2), also called ST4, differs in
            the 3' UTR and coding sequence compared to variant 1. The resulting
            isoform (2) has a shorter and distinct C-terminus compared to
            isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC009237.2, S45272.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..253
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q31.1"
     Protein         1..253
                     /product="thyrotropin receptor isoform 2"
                     /note="seven transmembrane helix receptor; thyrotropin
                     receptor-I, hTSHR-I; TSH receptor"
                     /calculated_mol_wt=28296
     Region          54..77
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          66..221
                     /region_name="LRR_5"
                     /note="Leucine rich repeats (6 copies); pfam13306"
                     /db_xref="CDD:433104"
     Region          78..102
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          103..127
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          147..179
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          180..201
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          202..223
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..253
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /coded_by="NM_001018036.3:61..822"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS32131.1"
                     /db_xref="GeneID:7253"
                     /db_xref="HGNC:HGNC:12373"
                     /db_xref="MIM:603372"
ORIGIN      
        1 mrpadllqlv llldlprdlg gmgcssppce chqeedfrvt ckdiqripsl ppstqtlkli
       61 ethlrtipsh afsnlpnisr iyvsidvtlq qleshsfynl skvthieirn trnltyidpd
      121 alkelpllkf lgifntglkm fpdltkvyst diffileitd npymtsipvn afqglcnetl
      181 tlklynngft svqgyafngt kldavylnkn kyltvidkda fggvysgpsl llplgrksls
      241 fetqkaprss mps
//
LOCUS       NP_001372477             628 aa            linear   PRI 18-MAR-2023
DEFINITION  caprin-2 isoform 35 [Homo sapiens].
ACCESSION   NP_001372477
VERSION     NP_001372477.1
DBSOURCE    REFSEQ: accession NM_001385548.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 628)
  AUTHORS   Ma B, Zhang W, Wang X, Jiang H, Tang L, Yang W, Kang Q and Cao J.
  TITLE     Polymorphisms in TRIB2 and CAPRIN2 Genes Contribute to the
            Susceptibility to High Myopia-Induced Cataract in Han Chinese
            Population
  JOURNAL   Med Sci Monit 29, e937702 (2023)
   PUBMED   36710479
  REMARK    GeneRIF: Polymorphisms in TRIB2 and CAPRIN2 Genes Contribute to the
            Susceptibility to High Myopia-Induced Cataract in Han Chinese
            Population.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 628)
  AUTHORS   Zheng Y, Zeng J, Xia H, Wang X, Chen H, Huang L and Zeng C.
  TITLE     Upregulated lncRNA Cyclin-dependent kinase inhibitor 2B antisense
            RNA 1 induces the proliferation and migration of colorectal cancer
            by miR-378b/CAPRIN2 axis
  JOURNAL   Bioengineered 12 (1), 5476-5490 (2021)
   PUBMED   34511033
  REMARK    GeneRIF: Upregulated lncRNA Cyclin-dependent kinase inhibitor 2B
            antisense RNA 1 induces the proliferation and migration of
            colorectal cancer by miR-378b/CAPRIN2 axis.
REFERENCE   3  (residues 1 to 628)
  AUTHORS   Ai Y, Wu S, Zou C and Wei H.
  TITLE     LINC00941 promotes oral squamous cell carcinoma progression via
            activating CAPRIN2 and canonical WNT/beta-catenin signaling pathway
  JOURNAL   J Cell Mol Med 24 (18), 10512-10524 (2020)
   PUBMED   32691935
  REMARK    GeneRIF: LINC00941 promotes oral squamous cell carcinoma
            progression via activating CAPRIN2 and canonical WNT/beta-catenin
            signaling pathway.
REFERENCE   4  (residues 1 to 628)
  AUTHORS   Wang X, Jia Y, Fei C, Song X and Li L.
  TITLE     Activation/Proliferation-associated Protein 2 (Caprin-2) Positively
            Regulates CDK14/Cyclin Y-mediated Lipoprotein Receptor-related
            Protein 5 and 6 (LRP5/6) Constitutive Phosphorylation
  JOURNAL   J Biol Chem 291 (51), 26427-26434 (2016)
   PUBMED   27821587
  REMARK    GeneRIF: findings revealed an unrecognized role of Caprin-2 in
            facilitating LRP5/6 constitutive phosphorylation at G2/M through
            forming a quaternary complex with CDK14, Cyclin Y, and LRP5/6.
REFERENCE   5  (residues 1 to 628)
  AUTHORS   Miao H, Jia Y, Xie S, Wang X, Zhao J, Chu Y, Zhou Z, Shi Z, Song X
            and Li L.
  TITLE     Structural insights into the C1q domain of Caprin-2 in canonical
            Wnt signaling
  JOURNAL   J Biol Chem 289 (49), 34104-34113 (2014)
   PUBMED   25331957
  REMARK    GeneRIF: Caprin-2 C1q-related domain forms a flexible homotrimer
            mediated by calcium, and this trimeric assembly is required for the
            functioning of caprin-2.
REFERENCE   6  (residues 1 to 628)
  AUTHORS   Shiina N and Tokunaga M.
  TITLE     RNA granule protein 140 (RNG140), a paralog of RNG105 localized to
            distinct RNA granules in neuronal dendrites in the adult vertebrate
            brain
  JOURNAL   J Biol Chem 285 (31), 24260-24269 (2010)
   PUBMED   20516077
REFERENCE   7  (residues 1 to 628)
  AUTHORS   Ding Y, Xi Y, Chen T, Wang JY, Tao DL, Wu ZL, Li YP, Li C, Zeng R
            and Li L.
  TITLE     Caprin-2 enhances canonical Wnt signaling through regulating LRP5/6
            phosphorylation
  JOURNAL   J Cell Biol 182 (5), 865-872 (2008)
   PUBMED   18762581
  REMARK    GeneRIF: Caprin-2 promotes activation of the canonical Wnt
            signaling pathway by regulating LRP5/6 phosphorylation.
REFERENCE   8  (residues 1 to 628)
  AUTHORS   Tao WA, Wollscheid B, O'Brien R, Eng JK, Li XJ, Bodenmiller B,
            Watts JD, Hood L and Aebersold R.
  TITLE     Quantitative phosphoproteome analysis using a dendrimer conjugation
            chemistry and tandem mass spectrometry
  JOURNAL   Nat Methods 2 (8), 591-598 (2005)
   PUBMED   16094384
REFERENCE   9  (residues 1 to 628)
  AUTHORS   Grill B, Wilson GM, Zhang KX, Wang B, Doyonnas R, Quadroni M and
            Schrader JW.
  TITLE     Activation/division of lymphocytes results in increased levels of
            cytoplasmic activation/proliferation-associated protein-1:
            prototype of a new family of proteins
  JOURNAL   J Immunol 172 (4), 2389-2400 (2004)
   PUBMED   14764709
REFERENCE   10 (residues 1 to 628)
  AUTHORS   Aerbajinai W, Lee YT, Wojda U, Barr VA and Miller JL.
  TITLE     Cloning and characterization of a gene expressed during terminal
            differentiation that encodes a novel inhibitor of growth
  JOURNAL   J Biol Chem 279 (3), 1916-1921 (2004)
   PUBMED   14593112
  REMARK    GeneRIF: regulated expression of EEG-1 is involved in the
            orchestrated regulation of growth that occurs as erythroblasts
            shift from a highly proliferative state toward their terminal phase
            of differentiation.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010198.8.
            
            Summary: The protein encoded by this gene may regulate the
            transport of mRNA. It may play a role in the differentiation of
            erythroblasts. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Feb
            2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1971183.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..628
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     Protein         1..628
                     /product="caprin-2 isoform 35"
                     /note="RNA granule protein 140; C1q domain-containing
                     protein 1; gastric cancer multidrug resistance-associated
                     protein; cytoplasmic activation/proliferation-associated
                     protein 2"
                     /calculated_mol_wt=69645
     Region          <7..236
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          287..602
                     /region_name="Caprin-1_C"
                     /note="Cytoplasmic activation/proliferation-associated
                     protein-1 C term; pfam12287"
                     /db_xref="CDD:432456"
     CDS             1..628
                     /gene="CAPRIN2"
                     /gene_synonym="C1QDC1; EEG-1; EEG1; RNG140"
                     /coded_by="NM_001385548.1:768..2654"
                     /note="isoform 35 is encoded by transcript variant 57"
                     /db_xref="GeneID:65981"
                     /db_xref="HGNC:HGNC:21259"
                     /db_xref="MIM:610375"
ORIGIN      
        1 mliqsekktq lsktesvkes eslmefaqpe iqpqeflnrr ymtevdysnk qgeeqpwead
       61 yarkpnlpkr wdmltepdgq ekkqesfksw easgkhqevs kpavsleqrk qdtsklrstl
      121 peeqkkqeis kskpspsqwk qdtpkskagy vqeeqkkqet pklwpvqlqk eqdpkkqtpk
      181 swtpsmqseq nttkswttpm ceeqdskqpe tpkswennve sqkhsltsqs qispkswgva
      241 taslipndql lprklntepk dvpkpvhqpv gssstlpkdp vlrkeklqdl mtqiqgtcnf
      301 mqesvldfdk pssaiptsqp psatpgspva skeqnlssqs dflqeplqat sspvtcssna
      361 clvttdqass gsetefmtse tpeaaippgk qpsslaspnp pmakgseqgf qsppassssv
      421 tintapfqam qtvfnvnapl pprkeqeike spyspgynqs fttastqtpp qcqlpsihve
      481 qtvhsqetaa nyhpdgtiqv sngslafypa qtnvfprptq pfvnsrgsvr gctrggrlit
      541 nsyrspggyk gfdtyrglps isngnysqlq fqareysgap ysqrdnfqqc ykrggtsggp
      601 ransrancfi mrnslllikq qggvillr
//
LOCUS       NP_002479                 99 aa            linear   PRI 18-MAR-2023
DEFINITION  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2
            isoform 1 [Homo sapiens].
ACCESSION   NP_002479
VERSION     NP_002479.1
DBSOURCE    REFSEQ: accession NM_002488.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 99)
  AUTHORS   Signes A and Fernandez-Vizarra E.
  TITLE     Assembly of mammalian oxidative phosphorylation complexes I-V and
            supercomplexes
  JOURNAL   Essays Biochem 62 (3), 255-270 (2018)
   PUBMED   30030361
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 99)
  AUTHORS   Perrier S, Gauquelin L, Tetreault M, Tran LT, Webb N, Srour M,
            Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S,
            Gambello MJ, Simons C, Vanderver A and Bernard G.
  CONSRTM   Care4Rare Canada Consortium
  TITLE     Recessive mutations in NDUFA2 cause mitochondrial
            leukoencephalopathy
  JOURNAL   Clin Genet 93 (2), 396-400 (2018)
   PUBMED   28857146
  REMARK    GeneRIF: Review of a biorepository of patients with unsolved
            genetic leukoencephalopathies who underwent whole-exome or genome
            sequencing allowed us to identify a second patient with compound
            heterozygous mutations in NDUFA2. Only 1 other patient with
            mutations in NDUFA2 and a different phenotype (Leigh syndrome) has
            previously been reported. This is the first report of cystic
            leukoencephalopathy caused by mutations in NDUFA2.
REFERENCE   3  (residues 1 to 99)
  AUTHORS   Guo R, Zong S, Wu M, Gu J and Yang M.
  TITLE     Architecture of Human Mitochondrial Respiratory Megacomplex
            I2III2IV2
  JOURNAL   Cell 170 (6), 1247-1257 (2017)
   PUBMED   28844695
REFERENCE   4  (residues 1 to 99)
  AUTHORS   Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts
            HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA
            and van den Heuvel LP.
  TITLE     NDUFA2 complex I mutation leads to Leigh disease
  JOURNAL   Am J Hum Genet 82 (6), 1306-1315 (2008)
   PUBMED   18513682
REFERENCE   5  (residues 1 to 99)
  AUTHORS   Brockmann C, Diehl A, Rehbein K, Strauss H, Schmieder P, Korn B,
            Kuhne R and Oschkinat H.
  TITLE     The oxidized subunit B8 from human complex I adopts a thioredoxin
            fold
  JOURNAL   Structure 12 (9), 1645-1654 (2004)
   PUBMED   15341729
  REMARK    GeneRIF: solution structure shows a thioredoxin fold with highest
            similarities to the human thioredoxin mutant C73S and thioredoxin 2
            from Anabeana sp
REFERENCE   6  (residues 1 to 99)
  AUTHORS   Murray J, Zhang B, Taylor SW, Oglesbee D, Fahy E, Marusich MF,
            Ghosh SS and Capaldi RA.
  TITLE     The subunit composition of the human NADH dehydrogenase obtained by
            rapid one-step immunopurification
  JOURNAL   J Biol Chem 278 (16), 13619-13622 (2003)
   PUBMED   12611891
REFERENCE   7  (residues 1 to 99)
  AUTHORS   Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA,
            Smeets RJ, Trijbels JM and Smeitink JA.
  TITLE     cDNA of eight nuclear encoded subunits of NADH:ubiquinone
            oxidoreductase: human complex I cDNA characterization completed
  JOURNAL   Biochem Biophys Res Commun 253 (2), 415-422 (1998)
   PUBMED   9878551
REFERENCE   8  (residues 1 to 99)
  AUTHORS   Emahazion T and Brookes AJ.
  TITLE     Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron
            transport chain genes by intron based radiation hybrid mapping
  JOURNAL   Cytogenet Cell Genet 82 (1-2), 114 (1998)
   PUBMED   9763676
REFERENCE   9  (residues 1 to 99)
  AUTHORS   Ton C, Hwang DM, Dempsey AA and Liew CC.
  TITLE     Identification and primary structure of five human NADH-ubiquinone
            oxidoreductase subunits
  JOURNAL   Biochem Biophys Res Commun 241 (2), 589-594 (1997)
   PUBMED   9425316
REFERENCE   10 (residues 1 to 99)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26425749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC003674.1, AA993683.1 and
            AC116353.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The encoded protein is a subunit of the hydrophobic
            protein fraction of the NADH:ubiquinone oxidoreductase (complex 1),
            the first enzyme complex in the electron transport chain located in
            the inner mitochondrial membrane, and may be involved in regulating
            complex I activity or its assembly via assistance in redox
            processes. Mutations in this gene are associated with Leigh
            syndrome, an early-onset progressive neurodegenerative disorder.
            Alternative splicing results in multiple transcript
            variants.[provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC003674.1, BJ995924.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000252102.9/
                                                  ENSP00000252102.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..99
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     Protein         1..99
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex subunit 2 isoform 1"
                     /EC_number="7.1.1.2"
                     /note="NADH-ubiquinone oxidoreductase subunit CI-B8;
                     complex I B8 subunit; NADH dehydrogenase (ubiquinone) 1
                     alpha subcomplex, 2, 8kDa"
                     /calculated_mol_wt=10790
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (O43678.3)"
     Region          28..97
                     /region_name="L51_S25_CI-B8"
                     /note="Mitochondrial ribosomal protein L51 / S25 / CI-B8
                     domain; smart00916"
                     /db_xref="CDD:197984"
     Site            64
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9CQ75; propagated from
                     UniProtKB/Swiss-Prot (O43678.3)"
     CDS             1..99
                     /gene="NDUFA2"
                     /gene_synonym="B8; CD14; CIB8; MC1DN13"
                     /coded_by="NM_002488.5:48..347"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS4234.1"
                     /db_xref="GeneID:4695"
                     /db_xref="HGNC:HGNC:7685"
                     /db_xref="MIM:602137"
ORIGIN      
        1 maaaaasrgv gaklglreir ihlcqrspgs qgvrdfiekr yvelkkanpd lpilirecsd
       61 vqpklwarya fgqetnvpln nfsadqvtra lenvlsgka
//
LOCUS       NP_659403               2179 aa            linear   PRI 18-MAR-2023
DEFINITION  FRAS1-related extracellular matrix protein 1 isoform 1 precursor
            [Homo sapiens].
ACCESSION   NP_659403
VERSION     NP_659403.4
DBSOURCE    REFSEQ: accession NM_144966.7
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2179)
  AUTHORS   Kashem MA, Lischynski J, Stojak B, Li L, Yuan XY, Liang B, Kimani
            J, Plummer FA and Luo M.
  TITLE     High level of plasma TILRR protein is associated with faster HIV
            seroconversion
  JOURNAL   EBioMedicine 78, 103955 (2022)
   PUBMED   35339895
  REMARK    GeneRIF: High level of plasma TILRR protein is associated with
            faster HIV seroconversion.
REFERENCE   2  (residues 1 to 2179)
  AUTHORS   Dawson AJ, Hovanes K, Liu J, Marles S, Greenberg C, Mhanni A,
            Chudley A, Frosk P, Sahoo T, Schanze D and Zenker M.
  TITLE     Heterozygous intragenic deletions of FREM1 are not associated with
            trigonocephaly
  JOURNAL   Clin Dysmorphol 30 (2), 83-88 (2021)
   PUBMED   33038106
  REMARK    GeneRIF: Heterozygous intragenic deletions of FREM1 are not
            associated with trigonocephaly.
REFERENCE   3  (residues 1 to 2179)
  AUTHORS   Li HN, Li XR, Lv ZT, Cai MM, Wang G and Yang ZF.
  TITLE     Elevated expression of FREM1 in breast cancer indicates favorable
            prognosis and high-level immune infiltration status
  JOURNAL   Cancer Med 9 (24), 9554-9570 (2020)
   PUBMED   33058542
  REMARK    GeneRIF: Elevated expression of FREM1 in breast cancer indicates
            favorable prognosis and high-level immune infiltration status.
REFERENCE   4  (residues 1 to 2179)
  AUTHORS   Brischoux-Boucher E, Dahlen E, Gronier C, Nobili F, Marcoux E,
            Alkuraya FS and Van Maldergem L.
  TITLE     Bifid nose as the sole manifestation of BNAR syndrome, a
            FREM1-related condition
  JOURNAL   Clin Genet 98 (5), 515-516 (2020)
   PUBMED   32926405
  REMARK    GeneRIF: Bifid nose as the sole manifestation of BNAR syndrome, a
            FREM1-related condition.
REFERENCE   5  (residues 1 to 2179)
  AUTHORS   Kashem MA, Li H, Toledo NP, Omange RW, Liang B, Liu LR, Li L, Yang
            X, Yuan XY, Kindrachuk J, Plummer FA and Luo M.
  TITLE     Toll-like Interleukin 1 Receptor Regulator Is an Important
            Modulator of Inflammation Responsive Genes
  JOURNAL   Front Immunol 10, 272 (2019)
   PUBMED   30873160
  REMARK    GeneRIF: Toll-like Interleukin 1 Receptor Regulator Is an Important
            Modulator of Inflammation Responsive Genes.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 2179)
  AUTHORS   Zhang X, Shephard F, Kim HB, Palmer IR, McHarg S, Fowler GJ,
            O'Neill LA, Kiss-Toth E and Qwarnstrom EE.
  TITLE     TILRR, a novel IL-1RI co-receptor, potentiates MyD88 recruitment to
            control Ras-dependent amplification of NF-kappaB
  JOURNAL   J Biol Chem 285 (10), 7222-7232 (2010)
   PUBMED   19940113
  REMARK    GeneRIF: TILRR, an isoform encoded by an alternatively spliced
            FREM1 mRNA, is an IL-1RI co-receptor that associates with the
            signaling receptor complex to enhance recruitment of MyD88 and
            control Ras-dependent amplification of NF-kappaB and inflammatory
            responses.
            Erratum:[J Biol Chem. 2010 Jun 4;285(23):18122]
REFERENCE   7  (residues 1 to 2179)
  AUTHORS   Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B,
            Bavi P, Al-Gazali LI and Alkuraya FS.
  TITLE     FREM1 mutations cause bifid nose, renal agenesis, and anorectal
            malformations syndrome
  JOURNAL   Am J Hum Genet 85 (3), 414-418 (2009)
   PUBMED   19732862
  REMARK    GeneRIF: The phenotypic variability reported for different Frem1
            mouse mutants suggests that the apparently distinct phenotype of
            bifid nose and anorectal and renal anomalies syndrome in humans may
            represent a previously unrecognized variant of Fraser syndrome.
            Erratum:[Am J Hum Genet. 2009 Nov;85(5):756]
REFERENCE   8  (residues 1 to 2179)
  AUTHORS   Kiyozumi D, Osada A, Sugimoto N, Weber CN, Ono Y, Imai T, Okada A
            and Sekiguchi K.
  TITLE     Identification of a novel cell-adhesive protein spatiotemporally
            expressed in the basement membrane of mouse developing hair
            follicle
  JOURNAL   Exp Cell Res 306 (1), 9-23 (2005)
   PUBMED   15878328
REFERENCE   9  (residues 1 to 2179)
  AUTHORS   Smyth I, Du X, Taylor MS, Justice MJ, Beutler B and Jackson IJ.
  TITLE     The extracellular matrix gene Frem1 is essential for the normal
            adhesion of the embryonic epidermis
  JOURNAL   Proc Natl Acad Sci U S A 101 (37), 13560-13565 (2004)
   PUBMED   15345741
REFERENCE   10 (residues 1 to 2179)
  AUTHORS   Li,C. and Slavotinek,A.
  TITLE     FREM1 Autosomal Recessive Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301721
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354672.27, AL512643.9 and
            AL390732.10.
            On Jan 12, 2007 this sequence version replaced NP_659403.3.
            
            Summary: This gene encodes a basement membrane protein that may
            play a role in craniofacial and renal development. Mutations in
            this gene have been associated with bifid nose with or without
            anorectal and renal anomalies. Alternatively spliced transcript
            variants encoding different isoforms have been described. PubMed ID
            19940113 describes one such variant that initiates transcription
            within a distinct, internal exon; the resulting shorter isoform
            (named Toll-like/interleukin-1 receptor regulator, TILRR) is
            suggested to be a co-receptor of the interleukin 1 receptor family
            and may regulate receptor function and Toll-like
            receptor/interleukin 1 receptor signal transduction, contributing
            to the control of inflammatory response activation. [provided by
            RefSeq, Apr 2011].
            
            Sequence Note:.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: AB160987.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2179
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p22.3"
     Protein         1..2179
                     /product="FRAS1-related extracellular matrix protein 1
                     isoform 1 precursor"
                     /note="FRAS1-related extracellular matrix protein 1;
                     extracellular matrix protein QBRICK"
                     /calculated_mol_wt=241946
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2228
     mat_peptide     22..2179
                     /product="FRAS1-related extracellular matrix protein 1
                     isoform 1"
                     /calculated_mol_wt=241946
     Region          29..260
                     /region_name="Frem_N"
                     /note="Frem protein N-terminal domain; pfam19309"
                     /db_xref="CDD:437141"
     Region          199..201
                     /region_name="Cell attachment site. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          296..390
                     /region_name="CSPG 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01201"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          <315..391
                     /region_name="Cadherin_3"
                     /note="Cadherin-like; pfam16184"
                     /db_xref="CDD:435196"
     Site            335
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          396..502
                     /region_name="Cadherin_3"
                     /note="Cadherin-like; pfam16184"
                     /db_xref="CDD:435196"
     Region          413..500
                     /region_name="CSPG 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01201"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          504..616
                     /region_name="Cadherin_3"
                     /note="Cadherin-like; pfam16184"
                     /db_xref="CDD:435196"
     Region          521..615
                     /region_name="CSPG 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01201"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Site            560
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Site            622
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          624..755
                     /region_name="Cadherin_3"
                     /note="Cadherin-like; pfam16184"
                     /db_xref="CDD:435196"
     Region          642..754
                     /region_name="CSPG 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01201"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          766..869
                     /region_name="Cadherin_3"
                     /note="Cadherin-like; pfam16184"
                     /db_xref="CDD:435196"
     Region          776..867
                     /region_name="CSPG 5.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01201"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          871..984
                     /region_name="Cadherin_3"
                     /note="Cadherin-like; pfam16184"
                     /db_xref="CDD:435196"
     Region          887..982
                     /region_name="CSPG 6.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01201"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          1011..1128
                     /region_name="Cadherin_3"
                     /note="Cadherin-like; pfam16184"
                     /db_xref="CDD:435196"
     Site            1014
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          1024..1126
                     /region_name="CSPG 7.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01201"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          1131..1256
                     /region_name="Cadherin_3"
                     /note="Cadherin-like; pfam16184"
                     /db_xref="CDD:435196"
     Region          1147..1254
                     /region_name="CSPG 8.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01201"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          1258..1374
                     /region_name="Cadherin_3"
                     /note="Cadherin-like; pfam16184"
                     /db_xref="CDD:435196"
     Region          1275..1372
                     /region_name="CSPG 9.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01201"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          1384..1487
                     /region_name="Cadherin_3"
                     /note="Cadherin-like; pfam16184"
                     /db_xref="CDD:435196"
     Region          1393..1485
                     /region_name="CSPG 10.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01201"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          1489..1598
                     /region_name="Cadherin_3"
                     /note="Cadherin-like; pfam16184"
                     /db_xref="CDD:435196"
     Region          1506..1596
                     /region_name="CSPG 11.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01201"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Site            1566
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          1613..1725
                     /region_name="Cadherin_3"
                     /note="Cadherin-like; pfam16184"
                     /db_xref="CDD:435196"
     Region          1628..1724
                     /region_name="CSPG 12.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01201"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          1746..1829
                     /region_name="Calx-beta"
                     /note="Calx-beta domain; cl02522"
                     /db_xref="CDD:413355"
     Region          1907..1909
                     /region_name="Cell attachment site. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C1.3)"
     Region          2053..2175
                     /region_name="CLECT"
                     /note="C-type lectin (CTL) or carbohydrate-recognition
                     domain (CRD); smart00034"
                     /db_xref="CDD:214480"
     Site            order(2149,2153,2155,2159,2161..2164,2167,2170..2171)
                     /site_type="other"
                     /note="ligand binding surface [chemical binding]"
                     /db_xref="CDD:153057"
     CDS             1..2179
                     /gene="FREM1"
                     /gene_synonym="BNAR; C9orf143; C9orf145; C9orf154; MOTA;
                     TILRR; TRIGNO2"
                     /coded_by="NM_144966.7:817..7356"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS47952.1"
                     /db_xref="GeneID:158326"
                     /db_xref="HGNC:HGNC:23399"
                     /db_xref="MIM:608944"
ORIGIN      
        1 mnslswgaan avllllllaw asptfisinr gvrvmkghsa flsgddlkfa ipkekdackv
       61 evvmnepitq rvgkltpqvf dchflpnevk yvhngcpild edtvklrlyr fterdtfiet
      121 filwvyllep dcniihmsnn vlevpefngl sqaidknllr fdydrmasle ctvsldtart
      181 rlpahgqmvl geprpeeprg dqphsffpes qlraklkcpg gsctpglkki gslkvsceef
      241 llmglryqhl dppspnidyi siqldltdtr skivyksesa wlpvyiragi pnqipkaafm
      301 avfilevdqf iltslttsvl dceedetpkp llvfnitkap lqgyvthlld htrpissftw
      361 kdlsdmqiay qppnsshser rhdevelevy dfffersapm tvhisirtad tnaprvswnt
      421 glsllegqsr aitweqfqvv dnddigavrl vtvgglqhgw ltlrggkgfl ftvadlqagv
      481 vryhhddsds tkdfvvfrif dghhsirhkf pinvlpkdds ppflitnvvi eleegqtili
      541 qgsmlrasdv dasddyiffn itkppqagei mkkpgpglig ypvhgflqrd lfngiiyyrh
      601 fggeifedsf qfvlwdshep pnlsvpqvat ihitpvddql pkeapgvsrh lvvketevay
      661 itkkqlhfid sesydrelvy tittppffsf shrhldagkl fmvdsipkvv knptalelrs
      721 ftqhavnymk vaymppmqdi gphcrdvqft fsvsnqhggt lhgicfniti lpvdnqvpea
      781 ftnplkvteg gqsiistehi lisdadtkld nidlslrelp lhgrvelngf plnsggtfsw
      841 gdlhtlkvry qhdgtevlqd dlllevtdgt nsaefvlhve vfpvndeppv lkadlmpvmn
      901 cseggevvit seyifatdvd sdnlklmfvi arepqhgvvr ragvtvdqfs qrdviseavt
      961 ykhtggeigl mpcfdtitlv vsdgeagpfv ngccyngpnp svplhasfpv ydlnitvypv
     1021 dnqppsiaig pvfvvdegcs taltvnhlsa tdpdtaaddl efvlvsppqf gylenilpsv
     1081 gfeksnigis idsfqwkdmn afhinyvqsr hlrieptadq ftvyvtdgkh hsleipfsii
     1141 inptndeapd fvvqnitvce gqmkeldssi isavdldipq dallfsitqk prhgllidrg
     1201 fskdfsenkq panphqkhap vhsfsmellk tgmrltymhd dsesladdft iqlsdgkhki
     1261 lktisvevip vndekpmlsk kaeiamnmge triissails aidedsprek iyyvferlpq
     1321 ngqlqlkigr dwvplspgmk ctqeevdlnl lrythtgamd sqnqdsftfy lwdgnnrspa
     1381 ldcqitikdm ekgdiviltk plvvskgdrg flttttllav dgtdkpeell yvitsppryg
     1441 qieyvhypgv pitnfsqmdv vgqtvcyvhk skvtvssdrf rfiisnglrt ehgvfeitle
     1501 tvdralpvvt rnkglrlaqg avgllspdll qltdpdtpae nltfllvqlp qhgqlylwgt
     1561 gllqhnftqq dvdsknvayr hsggdsqtdc ftfmatdgtn qgfivngrvw eepvlftiqv
     1621 dqldktapri tllhspsqvg llkngcygiy itsrvlkasd pdteddqiif kilqgpkhgh
     1681 lentttgefi hekfsqkdln sktilyiinp slevnsdtve fqimdptgns atpqilelkw
     1741 shiewsqtey evcenvgllp leiirrgysm dsafvgikvn qvsaavgkdf tvipskliqf
     1801 dpgmstkmwn iaitydglee ddevfeviln spvnavlgtk tkaavkilds kggqchpsys
     1861 snqskhstwe kgiwhllppg ssssttsgsf hlerrplpss mqlavirgdt lrgfdstdls
     1921 qrklrtrgng ktvrpssvyr ngtdiiynyh givslkledd sfpthkrkak vsiisqpqkt
     1981 ikvaelpqad kvesttdshf prqdqlpsfp knctlelkgl fhfeegiqkl yqcngiawka
     2041 wspqtkdved kscpagwhqh sgychilite qkgtwnaaaq acreqylgnl vtvfsrqhmr
     2101 wlwdiggrks fwiglndqvh aghwewigge pvaftngrrg psqrsklgks cvlvqrqgkw
     2161 qtkdcrrakp hnyvcsrkl
//
LOCUS       NP_004671                554 aa            linear   PRI 19-MAR-2023
DEFINITION  testis-specific chromodomain protein Y 1 isoform b [Homo sapiens].
ACCESSION   NP_004671
VERSION     NP_004671.1
DBSOURCE    REFSEQ: accession NM_004680.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 554)
  AUTHORS   Ghorbel M, Baklouti-Gargouri S, Keskes R, Chakroun N, Sellami A,
            Fakhfakh F and Ammar-Keskes L.
  TITLE     Deletion of CDY1b copy of Y chromosome CDY1 gene is a risk factor
            of male infertility in Tunisian men
  JOURNAL   Gene 548 (2), 251-255 (2014)
   PUBMED   25042452
  REMARK    GeneRIF: Findings showed that deletion of CDY1b copy gene is a
            significant risk factor for male infertility independent of sperm
            concentration, whereas deletion of CDY1a gene seems to have no
            effect on fertility in the Tunisian population.
REFERENCE   2  (residues 1 to 554)
  AUTHORS   Kleiman SE, Lehavi O, Hauser R, Botchan A, Paz G, Yavetz H and
            Yogev L.
  TITLE     CDY1 and BOULE transcripts assessed in the same biopsy as
            predictive markers for successful testicular sperm retrieval
  JOURNAL   Fertil Steril 95 (7), 2297-2302 (2011)
   PUBMED   21474125
  REMARK    GeneRIF: Assessing the expression of both CDY1 and BOULE by
            qualitative RT-PCR is a sensitive and feasible test for predicting
            the presence of sperm cells in testicular tissue biopsies.
REFERENCE   3  (residues 1 to 554)
  AUTHORS   Yang Y, Ma M, Li L, Su D, Chen P, Ma Y, Liu Y, Tao D, Lin L and
            Zhang S.
  TITLE     Differential effect of specific gr/gr deletion subtypes on
            spermatogenesis in the Chinese Han population
  JOURNAL   Int J Androl 33 (5), 745-754 (2010)
   PUBMED   20039973
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 554)
  AUTHORS   Sin HS, Koh E, Shigehara K, Sugimoto K, Maeda Y, Yoshida A, Kyono K
            and Namiki M.
  TITLE     Features of constitutive gr/gr deletion in a Japanese population
  JOURNAL   Hum Reprod 25 (9), 2396-2403 (2010)
   PUBMED   20663794
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 554)
  AUTHORS   Giachini C, Laface I, Guarducci E, Balercia G, Forti G and Krausz
            C.
  TITLE     Partial AZFc deletions and duplications: clinical correlates in the
            Italian population
  JOURNAL   Hum Genet 124 (4), 399-410 (2008)
   PUBMED   18807255
  REMARK    GeneRIF: Partial AZFc deletions including CDY1-DAZ gene is
            associated with impaired spermatogenesis.
REFERENCE   6  (residues 1 to 554)
  AUTHORS   Jones DO, Cowell IG and Singh PB.
  TITLE     Mammalian chromodomain proteins: their role in genome organisation
            and expression
  JOURNAL   Bioessays 22 (2), 124-137 (2000)
   PUBMED   10655032
  REMARK    Review article
REFERENCE   7  (residues 1 to 554)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Retroposition of autosomal mRNA yielded testis-specific gene family
            on human Y chromosome
  JOURNAL   Nat Genet 21 (4), 429-433 (1999)
   PUBMED   10192397
  REMARK    Erratum:[Nat Genet 1999 Jun;22(2):209]
REFERENCE   8  (residues 1 to 554)
  AUTHORS   Yen PH.
  TITLE     A long-range restriction map of deletion interval 6 of the human Y
            chromosome: a region frequently deleted in azoospermic males
  JOURNAL   Genomics 54 (1), 5-12 (1998)
   PUBMED   9806824
REFERENCE   9  (residues 1 to 554)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Functional coherence of the human Y chromosome
  JOURNAL   Science 278 (5338), 675-680 (1997)
   PUBMED   9381176
REFERENCE   10 (residues 1 to 554)
  AUTHORS   Fan,Y. and Silber,S.J.
  TITLE     Y Chromosome Infertility
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301513
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007562.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a protein containing a chromodomain and
            a histone acetyltransferase catalytic domain. Chromodomain proteins
            are components of heterochromatin-like complexes and can act as
            gene repressors. This protein is localized to the nucleus of late
            spermatids where histone hyperacetylation takes place. Histone
            hyperacetylation is thought to facilitate the transition in which
            protamines replace histones as the major DNA-packaging protein. The
            human chromosome Y has two identical copies of this gene within a
            palindromic region; this record represents the more telomeric copy.
            Chromosome Y also contains a pair of closely related genes in
            another more telomeric palindrome as well as several related
            pseudogenes. Two protein isoforms are encoded by transcript
            variants of this gene. Additional transcript variants have been
            described, but their full-length nature has not been determined.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2), also called the minor
            variant, lacks a segment in the 3' end of the coding sequence,
            compared to variant 1. Variant 2 encodes isoform b which has a
            longer and distinct C-terminus, compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306609.5/ ENSP00000302968.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..554
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.23"
     Protein         1..554
                     /product="testis-specific chromodomain protein Y 1 isoform
                     b"
                     /EC_number="2.3.1.48"
                     /note="chromodomain protein, Y chromosome, 1;
                     testis-specific chromodomain protein on Y; testis-specific
                     chromodomain protein Y 1; chromodomain protein, Y-linked,
                     1"
                     /calculated_mol_wt=61886
     Region          5..56
                     /region_name="CD_CDY"
                     /note="chromodomain of the Chromodomain Y-like protein
                     family; cd18634"
                     /db_xref="CDD:349284"
     Site            order(6..10,26,28..31,35,37..40,42..43,50,53..54)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:349284"
     Region          76..106
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6F8.1)"
     Region          286..482
                     /region_name="crotonase-like"
                     /note="Crotonase/Enoyl-Coenzyme A (CoA) hydratase
                     superfamily. This superfamily contains a diverse set of
                     enzymes including enoyl-CoA hydratase, napthoate synthase,
                     methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA
                     dehydratase, and dienoyl-CoA isomerase; cd06558"
                     /db_xref="CDD:119339"
     Site            order(306,308,339,343..347,390,392..394,416..417,420)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:119339"
     Site            order(345,394)
                     /site_type="active"
                     /note="oxyanion hole (OAH) forming residues [active]"
                     /db_xref="CDD:119339"
     Site            order(374,382,403..406,418..421,427,429..431,433..434,
                     439..440,442..443,445..446,449,460,463,478,481..482)
                     /site_type="other"
                     /note="trimer interface [polypeptide binding]"
                     /db_xref="CDD:119339"
     CDS             1..554
                     /gene="CDY1"
                     /gene_synonym="CDY; CDY1A"
                     /coded_by="NM_004680.3:327..1991"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS14801.1"
                     /db_xref="GeneID:9085"
                     /db_xref="HGNC:HGNC:1809"
                     /db_xref="MIM:400016"
ORIGIN      
        1 masqefevea ivdkrqdkng ntqylvrwkg ydkqddtwep eqhlmncekc vhdfnrrqte
       61 kqkkltwttt srifsnnarr rtsrstkany sknspktpvt dkhhrsknrk lfaasknvrr
      121 kaasilsdtk nmeiinstie tlapdspfdh ktvsgfqkle kldpiaadqq dtvvfkvteg
      181 kllrdplsrp gaeqtgiqnk tqihplmsqm sgsvtasmat gsatrkgivv lidplaangt
      241 tdmhtsvprv kggqrnitdd srdqpfikkm hftirltesa styrdivvkk edgftqivls
      301 trsteknaln tevikeivna lnsaaaddsk lvlfsaagsv fccgldfgyf vkhlrnnrnt
      361 aslemvdtik nfvntfiqfk kpivvsvngp aiglgasilp lcdlvwanek awfqtpyttf
      421 gqspdgcssi tfpkmmgkas anemliagrk ltareacakg lvsqvfltgt ftqevmiqik
      481 elasynpivl eeckalvrcn ikleleqane recevlrkiw ssaqgiesml kipllgykaa
      541 fpprktqndq rwcp
//
LOCUS       XP_006711797             435 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptosomal-associated protein 47 isoform X2 [Homo sapiens].
ACCESSION   XP_006711797
VERSION     XP_006711797.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006711734.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..435
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..435
                     /product="synaptosomal-associated protein 47 isoform X2"
                     /calculated_mol_wt=49177
     Region          22..115
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          122..186
                     /region_name="SNARE_SNAP47N"
                     /note="N-terminal SNARE motif of SNAP47; cd15888"
                     /db_xref="CDD:277241"
     Site            order(124,127..132,134..139,141..142,145..146,148..153,
                     155..156,158..160,162..167,169..170,172..174,176..177,
                     179..181,183..184,186)
                     /site_type="other"
                     /note="heterotetramer interface [polypeptide binding]"
                     /db_xref="CDD:277241"
     Site            159
                     /site_type="active"
                     /note="zero layer [active]"
                     /db_xref="CDD:277241"
     Region          375..433
                     /region_name="SNARE_SNAP47C"
                     /note="C-terminal SNARE motif of SNAP47; cd15854"
                     /db_xref="CDD:277207"
     Site            order(379..382,384..386,388..390,392..393,395..400,
                     402..403,405..406,409..410,412..414,416..418,420..421,
                     423..424,427..428,430..431,433)
                     /site_type="other"
                     /note="heterotetramer interface [polypeptide binding]"
                     /db_xref="CDD:277207"
     Site            406
                     /site_type="other"
                     /note="zero layer"
                     /db_xref="CDD:277207"
     CDS             1..435
                     /gene="SNAP47"
                     /gene_synonym="C1orf142; ESFI5812; HEL-S-290; HEL170;
                     SNAP-47; SVAP1"
                     /coded_by="XM_006711734.3:308..1615"
                     /db_xref="GeneID:116841"
                     /db_xref="HGNC:HGNC:30669"
                     /db_xref="MIM:619659"
ORIGIN      
        1 mrqkrpgpwr tqtqeqmsrd vcihtwpcty ylepkrrwvt gqlsltslsl rfmtdstgei
       61 lvsfplssiv eikkeashfi fssitilekg hakhwfsslr psrnvvfsii ehfwrellls
      121 qpgavadasv prtrgeeltg lmagsqkrle dtarvlhhqg qqldsvmrgl dkmesdleva
      181 drlltelesp awwpfssklw ktppetkpre dvsmtscepf gkegilikip avishrtesh
      241 vkpgrltvlv sgleihdsss llmhrfered vddikvhspy eisirqrfig kpdmayrlis
      301 akmpevipil evqfskkmel ledalvlrsa rtsspaeksc svwhaasglm grtlhreppa
      361 gdqegtalhl qtslpalsea dtqeltqilr rmkglaleae selerqdeal dgvaaavdra
      421 tltidkhnrr mkrlt
//
LOCUS       XP_047303862             603 aa            linear   PRI 20-MAR-2023
DEFINITION  consortin isoform X3 [Homo sapiens].
ACCESSION   XP_047303862
VERSION     XP_047303862.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447906.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..603
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..603
                     /product="consortin isoform X3"
                     /calculated_mol_wt=66334
     Region          490..601
                     /region_name="Consortin_C"
                     /note="Consortin C-terminus; pfam15281"
                     /db_xref="CDD:434594"
     CDS             1..603
                     /gene="CNST"
                     /gene_synonym="C1orf71; PPP1R64"
                     /coded_by="XM_047447906.1:223..2034"
                     /db_xref="GeneID:163882"
                     /db_xref="HGNC:HGNC:26486"
                     /db_xref="MIM:613439"
ORIGIN      
        1 mlsqglfsgd iaplmqekvl savtyavdde eaaevnaneq peapklvlqs lfslirgeve
       61 qldsralplc lhqiaesyfq eedyekamkf iqlerlyheq llanlsaiqe qwetkwktvq
      121 phtvtalrns ekgfngedfe rltkicathq dpllskhkia aveksqerkc stqllvsedp
      181 keggattkes esktclgtes skesqhtvep lgsspcchqm dvqtdspsls vtagkdhmee
      241 llcsaeatla lhtqssetag spsgpdssed aceddsrlql aqteacqdva riegiaedpk
      301 vflsskskte plispgcdri ppalisegky sqaqrkelrl plrdasealp tdqlenneln
      361 elqqpdltds dgkspqaqad sdgsenvlcg nnqisdlgil lpevcmapee kgdkddqlnk
      421 etedylnsll egclkdteds lsyednqddd sdllqdlspe easyslqenl psdesclsld
      481 dlakrieiae vvpteglvsi lkkrndtvgd hpaqmqhkps krrvrfqeid dsldqdevgg
      541 gscillvllc iatvflsvgg talyctfgdm espvctdfad nmdfyytkll qgvaelkhwi
      601 yls
//
LOCUS       XP_047274016             340 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1
            isoform X1 [Homo sapiens].
ACCESSION   XP_047274016
VERSION     XP_047274016.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418060.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..340
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..340
                     /product="guanine nucleotide-binding protein
                     G(I)/G(S)/G(T) subunit beta-1 isoform X1"
                     /calculated_mol_wt=37246
     Region          48..340
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(54,72,76,82..83,90..91,114,118,124..125,141..142,
                     159,163,169..170,183,200,205,211..212,224..225,243,247,
                     253..254,265..266,286,291,297..298,310..311,329,333,
                     339..340)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          58..95
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          101..141
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          146..181
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          188..223
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          229..265
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          273..309
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          315..339
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..340
                     /gene="GNB1"
                     /gene_synonym="HG2A; MDS; MRD42"
                     /coded_by="XM_047418060.1:553..1575"
                     /db_xref="GeneID:2782"
                     /db_xref="HGNC:HGNC:4396"
                     /db_xref="MIM:139380"
ORIGIN      
        1 mseldqlrqe aeqlknqird arkacadatl sqitnnidpv griqmrtrrt lrghlakiya
       61 mhwgtdsrll vsasqdgkli iwdsyttnkv haiplrsswv mtcayapsgn yvacggldni
      121 csiynlktre gnvrvsrela ghtgylsccr flddnqivts sgdttcalwd ietgqqtttf
      181 tghtgdvmsl slapdtrlfv sgacdasakl wdvregmcrq tftghesdin aicffpngna
      241 fatgsddatc rlfdlradqe lmtyshdnii cgitsvsfsk sgrlllagyd dfncnvwdal
      301 kadragvlag hdnrvsclgv tddgmavatg swdsflkiwn
//
LOCUS       XP_011517674             828 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 438 isoform X2 [Homo sapiens].
ACCESSION   XP_011517674
VERSION     XP_011517674.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011519372.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..828
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..828
                     /product="zinc finger protein 438 isoform X2"
                     /calculated_mol_wt=91706
     Region          <98..364
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          507..529
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          509..529
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          535..558
                     /region_name="zf-C2H2_4"
                     /note="C2H2-type zinc finger; pfam13894"
                     /db_xref="CDD:433562"
     Region          537..557
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..828
                     /gene="ZNF438"
                     /gene_synonym="bA330O11.1"
                     /coded_by="XM_011519372.3:485..2971"
                     /db_xref="GeneID:220929"
                     /db_xref="HGNC:HGNC:21029"
ORIGIN      
        1 mqnsvsvppk degesnipsg tiqsrkglqn ksqfrtiapk ivpkvltsrm lpchspsrsd
       61 qvnlgpsins kllgmstqny almqvagqeg tfslvalphv asaqpiqkpr mslpenlklp
      121 ipryqpprns kasrkkpili fpksgcskap aqtqmcpqms pspphhpell ykpspfeevp
      181 sleqapasis taaltngsdh gdlrppvtnt hgslnppatp asstpeepak qdltalsgka
      241 hfvskitssk psavasekfk eqvdlaktmt nlsptilgna vqlissvpkg klpippysrm
      301 ktmevykiks daniagfslp gpkadcdkip sttegfnaat kvasrlpvpq vsqqsacesa
      361 fcpptkldln hktklnsgaa krkgrkrkvp deilafqgkr rkyiinkcrd gkervkndpq
      421 efrdqklgtl kkyrsimpkp imviptlasl aspttlqsqm lgglgqdvll nnsltpkylg
      481 ckqdnssspk pssvfrngfs gikkpwhrch vcnhhfqfkq hlrdhmntht nrrpyscric
      541 rksyvrpgsl sthmklhhge nrlkklmcce fcakvfghir vyfghlkevh rvvistepap
      601 selqpgdipk nrdmsvrgme gslerenksn leedfllnqa devklqikcg rcqitaqsfa
      661 eikfhlldvh geeiegrlqe gtfpgskgtq eelvqhaspd wkrhpergkp ekvhsssees
      721 hacprlkrql hlhqngveml menegpqsgt nkpretcqgp ecpglhtfll wshsgfncll
      781 caemlgrked llhhwkhqhn cedpsklwai lntvsnqgvi elsseaek
//
LOCUS       XP_016872585             999 aa            linear   PRI 20-MAR-2023
DEFINITION  hypoxia up-regulated protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_016872585
VERSION     XP_016872585.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017017096.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..999
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..999
                     /product="hypoxia up-regulated protein 1 isoform X2"
                     /calculated_mol_wt=111205
     Region          36..424
                     /region_name="NBD_sugar-kinase_HSP70_actin"
                     /note="Nucleotide-Binding Domain of the sugar
                     kinase/HSP70/actin superfamily; cl17037"
                     /db_xref="CDD:450142"
     Site            order(39..42,44,46,205,232..235,384)
                     /site_type="other"
                     /note="nucleotide binding site [chemical binding]"
                     /db_xref="CDD:212657"
     Region          <593..694
                     /region_name="PRK13108"
                     /note="prolipoprotein diacylglyceryl transferase;
                     Reviewed"
                     /db_xref="CDD:237284"
     CDS             1..999
                     /gene="HYOU1"
                     /gene_synonym="GRP-170; Grp170; HSP12A; IMD59; ORP-150;
                     ORP150"
                     /coded_by="XM_017017096.2:409..3408"
                     /db_xref="GeneID:10525"
                     /db_xref="HGNC:HGNC:16931"
                     /db_xref="MIM:601746"
ORIGIN      
        1 madkvrrqrp rrrvcwalva vlladllals dtlavmsvdl gsesmkvaiv kpgvpmeivl
       61 nkesrrktpv ivtlkenerf fgdsaasmai knpkatlryf qhllgkqadn phvalyqarf
      121 peheltfdpq rqtvhfqiss qlqfspeevl gmvlnysrsl aedfaeqpik davitvpvff
      181 nqaerravlq aarmaglkvl qlindntata lsygvfrrkd inttaqnimf ydmgsgstvc
      241 tivtyqmvkt keagmqpqlq irgvgfdrtl gglemelrlr erlaglfneq rkgqrakdvr
      301 enpramakll reanrlktvl sanadhmaqi eglmddvdfk akvtrvefee lcadlfervp
      361 gpvqqalqsa emsldeieqv ilvggatrvp rvqevllkav gkeelgknin adeaaamgav
      421 yqaaalskaf kvkpfvvrda vvypilveft reveeepgih slkhnkrvlf srmgpypqrk
      481 vitfnryshd fnfhinygdl gflgpedlrv fgsqnlttvk lkgvgdsfkk ypdyeskgik
      541 ahfnldesgv lsldrvesvf etlvedsaee estltklgnt isslfgggtt pdakengtdt
      601 vqeeeespae gskdepgeqv elkeeaeapv edgsqppppe pkgdatpege katekengdk
      661 seaqkpseka eagpegvapa pegekkqkpa rkrrmveeig velvvldlpd lpedklaqsv
      721 qklqdltlrd lekqerekaa nsleafifet qdklyqpeyq evsteeqree isgklsaast
      781 wledegvgat tvmlkeklae lrklcqglff rveerkkwpe rlsaldnlln hssmflkgar
      841 lipemdqift evemttlekv inetwawkna tlaeqaklpa tekpvllskd ieakmmaldr
      901 evqyllnkak ftkprprpkd kngtraeppl nasasdqgek vippagqted aepisepekv
      961 etgsepgdte plelggpgae peqkeqstgq krplkndel
//
LOCUS       XP_016875200             580 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-dependent RNA helicase DDX55 isoform X2 [Homo sapiens].
ACCESSION   XP_016875200
VERSION     XP_016875200.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019711.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..580
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..580
                     /product="ATP-dependent RNA helicase DDX55 isoform X2"
                     /calculated_mol_wt=66334
     Region          16..186
                     /region_name="DEADc_DDX55"
                     /note="DEAD-box helicase domain of DEAD box protein 55;
                     cd17960"
                     /db_xref="CDD:350718"
     Region          17..389
                     /region_name="SrmB"
                     /note="Superfamily II DNA and RNA helicase [Replication,
                     recombination and repair]; COG0513"
                     /db_xref="CDD:223587"
     Region          385..442
                     /region_name="DUF4217"
                     /note="Domain of unknown function (DUF4217); pfam13959"
                     /db_xref="CDD:433606"
     CDS             1..580
                     /gene="DDX55"
                     /coded_by="XM_017019711.2:322..2064"
                     /db_xref="GeneID:57696"
                     /db_xref="HGNC:HGNC:20085"
                     /db_xref="MIM:620176"
ORIGIN      
        1 mnseeeretk tlclqvtgsg ktlafvipil eillrreekl kksqvgaiii tptrelaiqi
       61 devlshftkh fpefsqilwi ggrnpgedve rfkqqggnii vatpgrledm frrkaegldl
      121 ascvrsldvl vldeadrlld mgfeasinti leflpkqrrt glfsatqtqe venlvraglr
      181 npvrvsvkek gvaassaqkt psrlenyymv ckadekfnql vhflrnhkqe khlvffryss
      241 glcgrgirds armcstcacv eyygkalevl vkgvkimcih gkmkykrnki fmefrklqsg
      301 ilvctdvmar gidipevnwv lqydppsnas afvhrcgrta righggsalv fllpmeesyi
      361 nflainqkcp lqemkpqrnt adllpklksm aladravfek gmkafvsyvq ayakhecnli
      421 frlkdldfas largfallrm pkmpelrgkq fpdfvpvdvn tdtipfkdki rekqrqklle
      481 qqrrektene grrkfiknka wskqkakkek kkkmnekrkr eegsdieded meellndtrl
      541 lkklkkgkit eeefekgllt tgkrtiktvd lgisdleddc
//
LOCUS       XP_011533186             640 aa            linear   PRI 20-MAR-2023
DEFINITION  progesterone-induced-blocking factor 1 isoform X7 [Homo sapiens].
ACCESSION   XP_011533186
VERSION     XP_011533186.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534884.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..640
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..640
                     /product="progesterone-induced-blocking factor 1 isoform
                     X7"
                     /calculated_mol_wt=76251
     Region          32..>355
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     Region          208..>567
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..640
                     /gene="PIBF1"
                     /gene_synonym="C13orf24; CEP90; JBTS33; PIBF"
                     /coded_by="XM_011534884.4:265..2187"
                     /db_xref="GeneID:10464"
                     /db_xref="HGNC:HGNC:23352"
                     /db_xref="MIM:607532"
ORIGIN      
        1 msrkiskesk kvnisssles edislettvp tddissseer egkvritrql ierkellhni
       61 qllkielsqk tmmidnlkvd yltkieelee klndalhqkq lltlrldnql afqqkdasky
      121 qelmkqemet illrqkqlee tnlqlrekag dvrrnlrdfe lteeqyiklk afpedqlsip
      181 eyvsvrfyel vnplrkeice lqvkknilae elstnknqlk qltetyeedr knysevqirc
      241 qrlaleladt kqliqqgdyr qenydkvkse rdaleqevie lrrkheilea shmiqtkers
      301 elskevvtle qtvtllqkdk eylnrqnmel svrcaheedr lerlqaqlee skkareemye
      361 kyvasrdhyk teyenklhde leqirlktnq eidqlrnasr emyerenrsg gwevqylrtg
      421 iwqepshyii iwhkarrnlr eardnavaek eravmaekda lekhdqlldr yrelqlstes
      481 kvteflhqsk lksfeservq llqeetarnl tqcqleceky qkklevltke fyslqassek
      541 ritelqaqns ehqarldiye klekeldeii mqtaeiened eaervlfsyg yganvpttak
      601 rrlkqsvhla rrvlqlekqn slilkdlehr kdqvtqlsqe
//
LOCUS       XP_047287441              81 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2
            isoform X1 [Homo sapiens].
ACCESSION   XP_047287441
VERSION     XP_047287441.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431485.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..81
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..81
                     /product="guanine nucleotide-binding protein
                     G(I)/G(S)/G(O) subunit gamma-2 isoform X1"
                     /calculated_mol_wt=8839
     Region          19..81
                     /region_name="GGL"
                     /note="G protein gamma subunit-like motifs; smart00224"
                     /db_xref="CDD:128520"
     Site            order(19,22,26,29,33,38,40,43..44,47..48,51,60..61,71)
                     /site_type="other"
                     /note="beta subunit binding site [polypeptide binding]"
                     /db_xref="CDD:238024"
     CDS             1..81
                     /gene="GNG2"
                     /gene_synonym="HG3F1"
                     /coded_by="XM_047431485.1:1126..1371"
                     /db_xref="GeneID:54331"
                     /db_xref="HGNC:HGNC:4404"
                     /db_xref="MIM:606981"
ORIGIN      
        1 mflkdlsstp masnntasia qarklveqlk meanidrikv skaaadlmay ceahakedpl
       61 ltpvpasenp frekkffcai l
//
LOCUS       XP_047287541             782 aa            linear   PRI 20-MAR-2023
DEFINITION  protein kinase C eta type isoform X1 [Homo sapiens].
ACCESSION   XP_047287541
VERSION     XP_047287541.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431585.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..782
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..782
                     /product="protein kinase C eta type isoform X1"
                     /calculated_mol_wt=88585
     Region          8..122
                     /region_name="C2_PKC_epsilon"
                     /note="C2 domain in Protein Kinase C (PKC) epsilon;
                     cd04014"
                     /db_xref="CDD:175981"
     Site            order(42,89,95)
                     /site_type="metal-binding"
                     /note="metal binding pocket [ion binding]"
                     /db_xref="CDD:175981"
     Region          265..325
                     /region_name="C1_nPKC_epsilon-like_rpt1"
                     /note="first protein kinase C conserved region 1 (C1
                     domain) found in novel protein kinase C (nPKC) epsilon,
                     eta, and similar proteins; cd20835"
                     /db_xref="CDD:410385"
     Site            order(276..282,290..294,298)
                     /site_type="other"
                     /note="putative DAG/PE binding site [chemical binding]"
                     /db_xref="CDD:410385"
     Region          343..397
                     /region_name="C1_nPKC_epsilon-like_rpt2"
                     /note="second protein kinase C conserved region 1 (C1
                     domain) found in novel protein kinase C (nPKC) epsilon,
                     eta, and similar proteins; cd20838"
                     /db_xref="CDD:410388"
     Site            order(350..356,364..368,371)
                     /site_type="other"
                     /note="putative DAG/PE binding site [chemical binding]"
                     /db_xref="CDD:410388"
     Region          458..780
                     /region_name="STKc_nPKC_eta"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Novel Protein Kinase C eta; cd05590"
                     /db_xref="CDD:270742"
     Site            order(460..464,468,481,483,516,532..533,535,539,541,578,
                     580,582..583,585,595..596,599,613..618,645,651,654)
                     /site_type="active"
                     /db_xref="CDD:270742"
     Site            order(460..464,468,481,483,516,533..535,539,578,580,
                     582..583,585,595..596)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270742"
     Site            order(464,539,541,578,580,582,599,613..618,645,651,654)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270742"
     Site            595..618
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270742"
     Site            755
                     /site_type="other"
                     /note="turn motif phosphorylation site [posttranslational
                     modification]"
                     /db_xref="CDD:270742"
     Site            770..775
                     /site_type="other"
                     /note="hydrophobic motif (HM)"
                     /db_xref="CDD:270742"
     CDS             1..782
                     /gene="PRKCH"
                     /gene_synonym="nPKC-eta; PKC-L; PKCL; PRKCL; uORF2"
                     /coded_by="XM_047431585.1:383..2731"
                     /db_xref="GeneID:5583"
                     /db_xref="HGNC:HGNC:9403"
                     /db_xref="MIM:605437"
ORIGIN      
        1 mssgtmkfng ylrvrigeav glqptrwslr hslfkkghql ldpyltvsvd qvrvgqtstk
       61 qktnkptyne efcanvtdgg hlelavfhet plgydhfvan ctlqfqellr ttgasdtfeg
      121 wvssgdpfpl cppnprspyv fqnspgsrfp ialwlrefpp dfglrprgrg tgdatavgvc
      181 rrrcvsrkpa wtrspfrtaa wpngksgrgp grspfppslw vdlepegkvf vvitltgsft
      241 eatlqrdrif khftrkrqra mrrrvhqing hkfmatylrq ptycshcref iwgvfgkqgy
      301 qcqvctcvvh krchhlivta ctcqnninkv dskiaeqrfg iniphkfsih nykvptfcdh
      361 cgsllwgimr qglqckickm nvhircqanv apncgvnave laktlagmgl qpgnisptsk
      421 lvsrstlrrq gkesskegng igvnssnrlg idnfefirvl gkgsfgkvml arvketgdly
      481 avkvlkkdvi lqdddvectm tekrilslar nhpfltqlfc cfqtpdrlff vmefvnggdl
      541 mfhiqksrrf deararfyaa eiisalmflh dkgiiyrdlk ldnvlldheg hckladfgmc
      601 kegicngvtt atfcgtpdyi apeilqemly gpavdwwamg vllyemlcgh apfeaenedd
      661 lfeailndev vyptwlheda tgilksfmtk nptmrlgslt qggehailrh pffkeidwaq
      721 lnhrqieppf rpriksredv snfdpdfike epvltpideg hlpminqdef rnfsyvspel
      781 qp
//
LOCUS       XP_047287819             575 aa            linear   PRI 20-MAR-2023
DEFINITION  AP-1 complex subunit gamma-like 2 isoform X12 [Homo sapiens].
ACCESSION   XP_047287819
VERSION     XP_047287819.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431863.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..575
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..575
                     /product="AP-1 complex subunit gamma-like 2 isoform X12"
                     /calculated_mol_wt=63307
     Region          <7..365
                     /region_name="Adaptin_N"
                     /note="Adaptin N terminal region; pfam01602"
                     /db_xref="CDD:396262"
     Region          462..570
                     /region_name="Alpha_adaptinC2"
                     /note="Adaptin C-terminal domain; smart00809"
                     /db_xref="CDD:197886"
     CDS             1..575
                     /gene="AP1G2"
                     /gene_synonym="G2AD"
                     /coded_by="XM_047431863.1:79..1806"
                     /db_xref="GeneID:8906"
                     /db_xref="HGNC:HGNC:556"
                     /db_xref="MIM:603534"
ORIGIN      
        1 msvtmvvpql vhilrtlvtm gystehsisg vsdpflqvqi lrllrilgrn heessetmnd
       61 llaqvatntd tsrnagnavl fetvltimdi rsaaglrvla vnilgrflln sdrniryval
      121 tsllrlvqsd hsavqrhrpt vveclretda slsrralels lalvnssnvr ammqelqafl
      181 escppdlrad casgillaae rfaptkrwhi dtilhvltta gthvrddava nltqliggaq
      241 elhaysvrrl ynalaedisq qplvqvaawc igeygdllla gnceeieplq vdeeevlall
      301 ekvlqshmsl patrgyalta lmklstrlcg dnnrirqvvs iygscldvel qqraveydtl
      361 frkydhmraa ilekmplver dgpqadeeak eskeaaqlse aapvptepqa sqlldlldll
      421 dgasgdvqhp phldpspgga lvhlldlpcv ppppapipdl kvferegvql nlsfirppen
      481 palllitita tnfsegdvth ficqaavpks lqlqlqapsg ntvpargglp itqlfrilnp
      541 nkaplrlklr ltydhfhqsv qeifevnnlp veswq
//
LOCUS       XP_011520280             777 aa            linear   PRI 20-MAR-2023
DEFINITION  transducin-like enhancer protein 3 isoform X4 [Homo sapiens].
ACCESSION   XP_011520280
VERSION     XP_011520280.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521978.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..777
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..777
                     /product="transducin-like enhancer protein 3 isoform X4"
                     /calculated_mol_wt=83886
     Region          18..143
                     /region_name="TLE_N"
                     /note="Groucho/TLE N-terminal Q-rich domain; pfam03920"
                     /db_xref="CDD:427589"
     Region          489..774
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(490,508,517..518,534..535,554,558,564..565,579..580,
                     597,602,608..609,622,639,644,650..651,660..661,681,685,
                     691..692,703..704,721,726,732..733,744..745,763,767,
                     773..774)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          494..533
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          541..579
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          584..620
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          627..662
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          667..700
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          708..742
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          749..773
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..777
                     /gene="TLE3"
                     /gene_synonym="ESG; ESG3; GRG3; HsT18976"
                     /coded_by="XM_011521978.4:1120..3453"
                     /db_xref="GeneID:7090"
                     /db_xref="HGNC:HGNC:11839"
                     /db_xref="MIM:600190"
ORIGIN      
        1 mypqgrhpap hqpgqpgfkf tvaescdrik defqflqaqy hslkveydkl anektemqrh
       61 yvmyyemsyg lniemhkqte iakrlntila qimpflsqeh qqqvaqaver akqvtmteln
      121 aiigvrglpn lpltqqqlqa qhlshathgp pvqlpphpsg lqppgippvt gsssgllalg
      181 algsqahltv kdeknhheld hreressann svspseslra sekhrgsady smeakkrkae
      241 ekdslsryds dgdksddlvv dvsnedpatp rvspahsppe ngldkarslk kdaptspasv
      301 asssstpssk tkdlghndks stpglksntp tprndaptpg tsttpglrsm pgkppgmdpi
      361 gimasalrtp isitssyaap fammshhemn gsltspgaya glhnippqms aaaaaaaaay
      421 grspmvgfdp hppmratglp sslasipggk paysfhvsad gqmqpvpfph dalagpgipr
      481 harqintlsh gevvcavtis nptrhvytgg kgcvkiwdis qpgskspisq ldclnrdnyi
      541 rsckllpdgr tlivggeast ltiwdlaspt prikaeltss apacyalais pdakvcfscc
      601 sdgniavwdl hnqtlvrqfq ghtdgascid ishdgtklwt ggldntvrsw dlregrqlqq
      661 hdftsqifsl gycptgewla vgmessnvev lhhtkpdkyq lhlhescvls lkfaycgkwf
      721 vstgkdnlln awrtpygasi fqskesssvl scdisaddky ivtgsgdkka tvyeviy
//
LOCUS       XP_011522860            1453 aa            linear   PRI 20-MAR-2023
DEFINITION  G patch domain-containing protein 8 isoform X2 [Homo sapiens].
ACCESSION   XP_011522860
VERSION     XP_011522860.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011524558.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1453
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1453
                     /product="G patch domain-containing protein 8 isoform X2"
                     /calculated_mol_wt=158241
     Region          58..85
                     /region_name="zf-C2H2_jaz"
                     /note="Zinc-finger double-stranded RNA-binding; pfam12171"
                     /db_xref="CDD:432381"
     CDS             1..1453
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /coded_by="XM_011524558.3:214..4575"
                     /db_xref="GeneID:23131"
                     /db_xref="HGNC:HGNC:29066"
                     /db_xref="MIM:614396"
ORIGIN      
        1 mgmgrmemel dyaedaterr rvlevekedt eelrqkykdy vdkekaiaka ledlranfyc
       61 elcdkqyqkh qefdnhinsy dhahkqegtq dyyeseiiad vlkanpsnlg aqitrrlkdl
      121 kqrefarnvs srsrkdekkq ekalrrlhel aeqrkqaeca pgsgpmfkpt tvavdeegge
      181 ddkdesatns gtgatascgl gsefstdkgg pftavqitnt tglaqapgla sqgisfgikn
      241 nlgtplqklg vsfsfakkap vklesiasvf kdhaeegtse dgtkpdekss dqglqkvgds
      301 dgssnldgkk ededpqdggs lastlsklkr mkreegagat epeyyhyipp ahckvkpnfp
      361 fllfmraseq mdgdntthpk napeskkgss pkpkscikaa asqgaektvs evseqpkets
      421 mtepsepgsk aeakkalggd vsdqsleshs qkvsetqmce snssketsla tpagkesqeg
      481 pkhptgpffp vlskdestal qwpsellift kaepsisysc nplyfdfkls rnkdartkgt
      541 ekpkdigsss kdhlqgldpg epnkskevgg ekivrssggr mdapasgsac sglnkqepgg
      601 shgsetedtg rslpskkers gkshrhkkkk khkksskhkr khkadteeks skaesgeksk
      661 krkkrkrkkn kssapadser gpkpeppgsg spapprrrrr aqddsqrrsl paeegssgkk
      721 deggggsssq dhggrkhkge lppsscqrra gtkrssrssh rsqpssgded sddasshrlh
      781 qkspsqysee eeeedsgseh srsrsrsgrr hsshrssrrs yssssdassd qscysrqrsy
      841 sddsysdysd rsrrhskrsh dsddsdyass khrskrhkys ssdddyslsc sqsrsrsrsh
      901 trersrsrgr srssscsrsr skrrsrstta hswqrsrsys rdrsrstrsp sqrsgsrkrs
      961 wghespeerh sgrrdfirsk iyrsqsphyf rsgrgegpgk kddgrgddsk atgppsqnsn
     1021 igtgrgsegd cspedknsvt aklllekiqs rkverkpsvs eevqatpnka gpklkdppqg
     1081 yfgpklppsl gnkpvlplig klpatrkpnk kceesglerg eeqeqsetee gppgssdalf
     1141 ghqfpseett gplldpppee sksgeatadh pvaplgtpah sdcypgdpti shnylpdpsd
     1201 gdtlesldss sqpgpvessl lpiapdlehf psyappsgdp siestdgaed aslaplesqp
     1261 itftpeemek ysklqqaaqq hiqqqllakq vkafpasaal apatpalqpi hiqqpatasa
     1321 tsittvqhai lqhhaaaaaa aigihphphp qplaqvhhip qphltpisls hlthsiipgh
     1381 patflashpi hiipasaihp gpftfhpvph aalyptllap rpaaaaatal hlhpllhpif
     1441 sgqdlqhpps hgt
//
LOCUS       XP_024306782            3510 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein axonemal heavy chain 17 isoform X4 [Homo sapiens].
ACCESSION   XP_024306782
VERSION     XP_024306782.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024451014.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3510
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..3510
                     /product="dynein axonemal heavy chain 17 isoform X4"
                     /calculated_mol_wt=400420
     Region          190..767
                     /region_name="DHC_N1"
                     /note="Dynein heavy chain, N-terminal region 1; pfam08385"
                     /db_xref="CDD:429963"
     Region          1269..1675
                     /region_name="DHC_N2"
                     /note="Dynein heavy chain, N-terminal region 2; pfam08393"
                     /db_xref="CDD:429971"
     Region          1809..2135
                     /region_name="AAA_6"
                     /note="Hydrolytic ATP binding site of dynein motor region
                     D1; pfam12774"
                     /db_xref="CDD:432774"
     Region          2123..2258
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Region          2294..2411
                     /region_name="Dynein_AAA_lid"
                     /note="Dynein heavy chain AAA lid domain; pfam17852"
                     /db_xref="CDD:436094"
     Region          2418..2595
                     /region_name="AAA_7"
                     /note="P-loop containing dynein motor region D3;
                     pfam12775"
                     /db_xref="CDD:432775"
     Region          2628..2727
                     /region_name="AAA_lid_1"
                     /note="AAA+ lid domain; pfam17857"
                     /db_xref="CDD:375385"
     Region          2771..3030
                     /region_name="AAA_8"
                     /note="P-loop containing dynein motor region D4;
                     pfam12780"
                     /db_xref="CDD:432779"
     Region          3043..3386
                     /region_name="MT"
                     /note="Microtubule-binding stalk of dynein motor;
                     pfam12777"
                     /db_xref="CDD:289543"
     Region          3414..>3510
                     /region_name="AAA_9"
                     /note="ATP-binding dynein motor region D5; pfam12781"
                     /db_xref="CDD:432780"
     CDS             1..3510
                     /gene="DNAH17"
                     /gene_synonym="DNAHL1; DNEL2; SPGF39"
                     /coded_by="XM_024451014.2:128..10660"
                     /db_xref="GeneID:8632"
                     /db_xref="HGNC:HGNC:2946"
                     /db_xref="MIM:610063"
ORIGIN      
        1 mtmapdvrle yleevasivl kfkpdkwskl igaeenvalf teffekpdvq vlvltlnaag
       61 miipclgfpq slkskgvyfi ktkseninkd nyrarllygd isptpvdqli avveevlssl
      121 lnqsenmagw pqvvsedivk qvhrlknemf vmsgkikgkt llpipehlgs ldgtlesmer
      181 ipssldnlll haiettiidw shqirdvlsk dsaqalldgl hplpqvefef wdtrllnlkc
      241 iheqlnrpkv nkiveileka kscywpalqn vytnvteglk eandivlylk plrilleeme
      301 qadftmlptf iakvldticf iwatseyynt pariivilqe fcnqiiemtr tflspeevlk
      361 glqgeieevl sgislavnvl kelyqtydfc cvnmklffkd kepvpwefps slafsrinsf
      421 fqriqtieel yktaieflkl ekielggvrg nllgslvtri ydevfelvkv fadckydpld
      481 pgdsnfdrdy adfeikiqdl drrlatifcq gfddcsciks sakllymcgg lmerplilae
      541 vaprysvmle lfdaeldnak ilydaqmaas eegniplihk nmppvagqlk wslelqerle
      601 vsmkhlkhve hpvmsgaeak ltyqkydemm ellrchreki yqqwvagvdq dchfnlgqpl
      661 ilrdaasnli hvnfskalva vlrevkylnf qqqkeipdsa eslfsenetf rkfvgnleli
      721 vgwyneikti vkavefllik seleaidvkl lsaettlfwn gegvfqyiqe vreilhnlqn
      781 rmqkakqnie gisqamkdws anplferkdn kkealldldg rianlnkrya avrdagvkiq
      841 amvaenaelf radtlslpwk dyviyiddmv ldefdqfirk slsflmdnmv idesiaplfe
      901 irmeldedgl tfnptlevgs drgflalieg lvndiynvar liprlakdrm nykmdlednt
      961 dliemreevs slvinamkea eeyqdsfery sylwtdnlqe fmknfliygc avtaedldtw
     1021 tddtipktpp tlaqfqeqid syeklyeevs kcentkvfhg wlqcdcrpfk qallstirrw
     1081 gfmfkrhlsn hvtnsladle afmkvarmgl tkplkegdyd glvevmghlm kvkerqaatd
     1141 nmfeplkqti ellktygeem peeihlklqe lpehwantkk laiqvkltva plqanevsil
     1201 rrkcqqfelk qhefrerfrr eapfsfsdpn pykslnkqqk sisamegime alsksgglfe
     1261 vpvpdykqlk achrevrllk elwdmvvvvn tsiedwkttk wkdinveqmd idckkfakdm
     1321 rsldkemktw dafvgldntv knvitslrav selqnpaire rhwqqlmqat qvkfkmseet
     1381 tladllqlnl hsyedevrni vdkavkesgm ekvlkaldst wsmmefqhep hprtgtmmlk
     1441 ssevlvetle dnqvqlqnlm mskylahflk evtswqqkls tadsvisiwf evqrtwshle
     1501 sifigsedir tqlpgdsqrf ddinqefkal medavktpnv veatskpgly nklealkksl
     1561 aicekalaey letkrlafpr fyfvssadll dilsngndpv evsrhlsklf dslcklkfrl
     1621 dasdkplkvg lgmyskedey mvfdqecdls gqvevwlnrv ldrmcstlrh eipeavvtye
     1681 ekpreqwild ypaqvaltct qiwwttevgl afarleegye nairdynkkq isqlnvlitl
     1741 lmgnlnagdr mkimtictid vhardvvakm ivakvessqa ftwqaqlrhr wdeekrhcfa
     1801 nicdaqiqys yeylgntprl vitpltdrcy itltqslhli mggapagpag tgktettkdl
     1861 gralgtmvyv fncseqmdyk scgniykgla qtgawgcfde fnrisvevls viavqvkcvq
     1921 dairakkkaf nflgeiigli ptvgifitmn pgyagraelp enlkalfrpc amvvpdfeli
     1981 ceimlmaegf learllarkf itlytlckel lskqdhydwg lraiksvlvv agslkrgdps
     2041 raedqvlmra lrdfnipkiv tddlpvfmgl igdlfpaldv prkrdlnfek iikqsivelk
     2101 lqaedsfvlk vvqleellqv rhsvfivgna gsgksqvlks lnktyqnlkr kpvavdldpk
     2161 avtcdelfgi inpvtrewkd glfstimrdl anithdgpkw iildgdidpm wieslntvmd
     2221 dnkvltlasn eriplnrtmr lvfeishlrt atpatvsrag ilyinpadlg wnpvvsswie
     2281 rrkvqsekan lmilfdkylp tcldklrfgf kkitpvpeit viqtilylle clltektvpp
     2341 dsprelyely fvftcfwafg gamfqdqlvd yrvefskwwi nefktikfps qgtifdyyid
     2401 pdtkkflpwt dkvpsfeldp dvplqaslvh ttetiriryf mdllmekswp vmlvgnagtg
     2461 ksvlmgdkle slntdnylvq avpfnfytts amlqgvlekp lekksgrnyg ppgtkklvyf
     2521 iddmnmpevd kygtvaphtl irqhmdhrhw ydrhkltlkd ihncqyvacm nptsgsftid
     2581 srlqrhfcvf avsfpgqeal ttiyntiltq hlafrsvsma iqrissqlva aalalhqkit
     2641 atflptaikf hyvfnlrdls nifqgllfst aevlktpldl vrlwlheter vygdkmvdek
     2701 dqetlhrvtm astkkffddl gdellfakpn ifchfaqgig dpkyvpvtdm aplnkllvdv
     2761 ldsynevnav mnlvlfedav ahicrinril esprgnallv gvggsgkqsl srlaayisgl
     2821 dvfqitlkkg ygipdlkidl aaqyikaavk nvpsvflmtd sqvaeeqflv lindllasge
     2881 ipglfmedev eniissmrpq vkslgmndtr etcwkffiek vrrqlkvilc fspvgsvlrv
     2941 rarkfpavvn ctaidwfhew pedalvsvsa rfleetegip wevkasisff msyvhttvne
     3001 msrvylater rynyttpktf leqiklyqnl lakkrtelva kierlenglm klqstasqvd
     3061 dlkaklaiqe aelkqknesa dqliqvvgie aekvskekai adqeevkvev inknvtekqk
     3121 acetdlakae pallaaqeal dtlnknnlte lksfgsppda vvnvtaavmi ltapggkipk
     3181 dkswkaakim mgkvdtflds lkkfdkehip eaclkafkpy qgnptfdpef irskstaaag
     3241 lcswcinivr fyevycdvap krqaleeana elaeaqekls riknkiaeln anlsnltsaf
     3301 ekataekikc qqeadatnrv illanrlvgg lasenirwae svenfrsqgv tlcgdvllis
     3361 afvsyvgyft kkyrnelmek fwipyihnlk vpipitngld plslltddad vatwnnqglp
     3421 sdrmstenat ilgnterwpl ivdaqlqgik wiknkyrsel kairlgqksy ldvieqaise
     3481 gdtllienig etvdpvldpl lgrntikkgk
//
LOCUS       XP_016880848             605 aa            linear   PRI 20-MAR-2023
DEFINITION  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase,
            mitochondrial isoform X3 [Homo sapiens].
ACCESSION   XP_016880848
VERSION     XP_016880848.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017025359.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..605
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..605
                     /product="CDP-diacylglycerol--glycerol-3-phosphate
                     3-phosphatidyltransferase, mitochondrial isoform X3"
                     /calculated_mol_wt=66612
     Region          186..359
                     /region_name="PLDc_PGS1_euk_1"
                     /note="Catalytic domain, repeat 1, of eukaryotic
                     PhosphatidylGlycerophosphate Synthases; cd09135"
                     /db_xref="CDD:197233"
     Site            order(187,189,298..302,306..312,322,324,334..338,340,342,
                     347,351..352,355,359)
                     /site_type="other"
                     /note="putative domain interface [polypeptide binding]"
                     /db_xref="CDD:197233"
     Site            order(310,312,324,326,337)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:197233"
     Site            310
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:197233"
     Region          439..>558
                     /region_name="PLDc_PGS1_euk_2"
                     /note="Catalytic domain, repeat 2, of eukaryotic
                     phosphatidylglycerophosphate synthases; cd09137"
                     /db_xref="CDD:197235"
     Site            555
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:197235"
     CDS             1..605
                     /gene="PGS1"
                     /coded_by="XM_017025359.2:179..1996"
                     /db_xref="GeneID:9489"
                     /db_xref="HGNC:HGNC:30029"
                     /db_xref="MIM:614942"
ORIGIN      
        1 mrvqpsrlqp gppalklpap aswasaasps pvsgpisasr gsapdlcass laflreggrl
       61 vlhyrpgpag gppaqpgqsl lpvytvlvge prppctytlk eglcvrsgsf gqapeavyim
      121 vsapgcecrr vqrglflrsp wlllapllsp avpqvtsppc clcpegvhrf qwirnlvpef
      181 gvssshvrvl sspaeffelm kgqirvakrr vvmaslylgt gpleqelvdc lestlekslq
      241 akfpsnlkvs illdftrgsr grknsrtmll pllrrfpeqv rvslfhtphl rgllrllipe
      301 rfnetiglqh ikvylfdnsv ilsganlsds yftnrqdryv flqdcaeiad fftelvdavg
      361 dvslqlqgdd tvqvvdgmvh pykgdraeyc kaankrvmdv insartrqqm lhaqtfhsns
      421 lltqedaaaa gdrrpapdtw iypliqmkpf eiqideivte tllteaerga kvylttgyfn
      481 ltqaymdlvl gtraeyqill aspevngffg akgvagaipa ayvhierqff sevcslgqqe
      541 rvqlqeywrr gwtfhakgar aalpevrcgv lchlraaesp geavgedgds tdqelllrtd
      601 raapf
//
LOCUS       XP_011524467            1845 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 236 isoform X1 [Homo sapiens].
ACCESSION   XP_011524467
VERSION     XP_011524467.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011526165.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1845
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..1845
                     /product="zinc finger protein 236 isoform X1"
                     /calculated_mol_wt=203574
     Region          <13..232
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          39..59
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(44,46,48,50..51,54..55,58,73,75,79..80,83..84,87,
                     100,102,104,106..107,110..111,114)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          68..88
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(68,71,84,88)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          95..115
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          123..143
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Region          155..175
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          195..705
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          199..219
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(204,206,208,210..211,214..215,218,232,234,238..239,
                     242..243,246,260,262,264,266..267,270..271,275)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          227..247
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(227,230,243,247)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          255..276
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          287..308
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          484..504
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(489,491,493,495..496,499..500,503,517,519,523..524,
                     527..528,531,545,547,549,551..552,555..556,559)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          512..532
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(512,515,528,532)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          540..560
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          568..588
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          651..1055
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          659..679
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(664,666,668,670..671,674..675,678,692,694,698..699,
                     702..703,706,720,722,724,726..727,730..731,734)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          687..707
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(687,690,703,707)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          715..735
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          743..763
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          951..1313
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          969..989
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(974,976,978,980..981,984..985,988,1002,1004,
                     1008..1009,1012..1013,1016,1030,1032,1034,1036..1037,
                     1040..1041,1044)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          997..1017
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(997,1000,1013,1017)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          1025..1045
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1169..1189
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1174,1176,1178,1180..1181,1184..1185,1188,1202,1204,
                     1208..1209,1212..1213,1216,1230,1232,1234,1236..1237,
                     1240..1241,1244)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          1197..1217
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1197,1200,1213,1217)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          1225..1245
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1253..1273
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     Region          <1288..1573
                     /region_name="SP1-4_N"
                     /note="N-terminal domain of transcription factor
                     Specificity Proteins (SP) 1-4; cl41773"
                     /db_xref="CDD:425404"
     Region          1659..>1707
                     /region_name="SUF4-like"
                     /note="N-terminal domain of Oryza sativa transcription
                     factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana
                     SUF4 (AtSUF4), and similar proteins; cd20908"
                     /db_xref="CDD:411020"
     Region          1659..1680
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          1659..1680
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1659,1662,1675,1680)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(1664,1670,1677,1679,1682,1694)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411020"
     Region          1688..1708
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1688..1707
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          1724..1744
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1729,1731,1733,1735..1736,1739..1740,1743,1757,1759,
                     1763..1764,1767..1768,1771,1785,1787,1789,1791..1792,
                     1795..1796)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          1737..1761
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          1752..1772
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1752,1755,1768,1772)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          1764..1789
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          1780..1798
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..1845
                     /gene="ZNF236"
                     /gene_synonym="ZNF236A; ZNF236B"
                     /coded_by="XM_011526165.4:345..5882"
                     /db_xref="GeneID:7776"
                     /db_xref="HGNC:HGNC:13028"
                     /db_xref="MIM:604760"
ORIGIN      
        1 mglcgllerc wlhhdpdgvl tlnaentnya yqvpnfhkce icllsfpkes qfqrhmrdhe
       61 rndkphrcdq cpqtfnvefn ltlhkcthsg edptcpvcnk kfsrvaslka himlhekeen
      121 licsecgdef tlqsqlavhm eehrqelagt rqhackackk efetsselke hmkthykirv
      181 sstrsynrni drsgftyscp hcgktfqkps qltrhiriht gerpfkcsec gkafnqkgal
      241 qthmikhtge kphacafcpa afsqkgnlqs hvqrvhsevk ngptynctec scvfkslgsl
      301 nthiskmhmg gpqnstsste tahvltatlf qtlplqqtea qatsassqps sqavsdviqq
      361 llelsepapv esgqspqpgq qlsitvginq dilqqalens glssipaaah pndschakts
      421 aphaqnpdvs svsneqtdpt daeqekeqes pekldkkekk mikkkspflp gsireengvr
      481 whvcpycake frkpsdlvrh irihthekpf kcpqcfrafa vkstltahik thtgikafkc
      541 qycmksfsts gslkvhirlh tgvrpfacph cdkkfrtsgh rkthiashfk htelrkmrhq
      601 rkpakvrvgk tnipvpdipl qepilitdlg liqpipknqf fqsyfnnnfv neadrpykcf
      661 ychraykksc hlkqhirsht gekpfkcsqc grgfvsagvl kahirthtgl ksfkclicng
      721 afttggslrr hmgihndlrp ymcpycqktf ktslnckkhm kthryelaqq lqqhqqaasi
      781 ddstvdqqsm qastqmqvei esdelpqtae vvaanpeaml dlepqhvvgt eeaglgqqla
      841 dqpleadedg fvapqdplrg hvdqfeeqsp aqqsfepagl pqgftvtdty hqqpqfppvq
      901 qlqdsstles qalstsfhqq sllqapssdg mnvttrliqe ssqeeldlqa qgsqfledne
      961 dqsrrsyrcd ycnkgfkkss hlkqhvrsht gekpykcklc grgfvssgvl kshekthtgv
     1021 kafscsvcna sfttngsltr hmathmsmkp ykcpfceegf rttvhckkhm krhqtvpsav
     1081 satgeteggd icmeeeeehs drnasrksrp evitfteeet aqlakirpqe satvsekvlv
     1141 qsaaekdris elrdkqaelq depkhancct ycpksfkkps dlvrhvriht gekpykcdec
     1201 gksftvkstl dchvkthtgq klfschvcsn afstkgslkv hmrlhtgakp fkcphcelrf
     1261 rtsgrrkthm qfhykpdpkk arkpmtrsss eglqpvnlln ssstdpnvfi mnnsvltgqf
     1321 dqnllqpglv gqailpasvs aggdltvslt dgslatlegi qlqlaanlvg pnvqisgida
     1381 asinnitlqi dpsilqqtlq qgnllaqqlt gepglapqns slqtsdstvp asvviqpisg
     1441 lslqptvtsa nltigplseq dsvlttnssg tqdltqvmts qglvspsggp heitltinns
     1501 slsqvlaqaa gptatsssgs pqeitltise lnttsgslps ttpmspsais tqnlvmsssg
     1561 vggdasvtlt ladtqgmlsg gldtvtlnit sqgqqfpall tdpslsgqgg agspqvilvs
     1621 htpqsasaac eeiayqvagv sgnlapgnqp ekegrahqcl ecdrafssaa vlmhhskevh
     1681 grerihgcpv crkafkrath lkehmqthqa gpslssqkpr vfkcdtceka fakpsqlerh
     1741 srihtgerpf hctlcekafn qksalqvhmk khtgerpykc aycvmgftqk snmklhmkra
     1801 hsyagalqes aghpeqdgee lsrtlhleev vqeaagewqa lthvf
//
LOCUS       XP_016882123             654 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 283 isoform X1 [Homo sapiens].
ACCESSION   XP_016882123
VERSION     XP_016882123.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017026634.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..654
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..654
                     /product="zinc finger protein 283 isoform X1"
                     /calculated_mol_wt=75301
     Region          47..88
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          184..204
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          212..232
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(217,219,221,223..224,227..228,231,245,247,251..252,
                     255..256,259,273,275,277,279..280,283..284,287)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          236..630
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          240..260
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          268..288
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          296..316
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          324..344
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          352..372
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          380..400
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(385,387,389,391..392,395..396,399,413,415,419..420,
                     423..424,427,441,443,445,447..448,451..452,455)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          408..428
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          436..456
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          464..484
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          492..512
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(497,499,501,503..504,507..508,511,525,527,531..532,
                     535..536,539,553,555,557,559..560,563..564,567)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          520..540
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          548..568
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          576..596
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          604..623
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..654
                     /gene="ZNF283"
                     /gene_synonym="HZF19; HZF41"
                     /coded_by="XM_017026634.2:340..2304"
                     /db_xref="GeneID:284349"
                     /db_xref="HGNC:HGNC:13077"
ORIGIN      
        1 mclitlnnsy rmfescsgfs gfcaspiees hgalisscns rtmtdglvtf rdvaidfsqe
       61 ewecldpaqr dlyvdvmlen ysnlvsldle sktyetkkif sendifeinf sqwemkdksk
      121 tlgleasifr nnwkcksife glkghqegyf sqmiisyeki psyrkskslt phqrihntek
      181 syvckecgka cshgsklvqh erthtaekhf eckecgknyl sayqlnvhqr fhtgekpyec
      241 kecgktfswg sslvkherih tgekpyecke cgkafsrgyh ltqhqkihtg vksykckecg
      301 kaffwgssla kheiihtgek pykckecgka fsrgyqltqh qkihtgkkpy eckicgkafc
      361 wgyqltrhqi fhtgekpyec kecgkafncg ssliqherih tgekpyecke cgkafsrgyh
      421 lsqhqkihtg ekpfeckecg kafswgsslv khervhtgek sheckecgkt fcsgyqltrh
      481 qvfhtgekpy eckecgkafn cgsslvqher ihtgekpyec kecgkafsrg yhltqhqkih
      541 tgekpfkcke cgkafswgss lvkhervhtn eksyeckdcg kafgsgyqls vhqrfhtgek
      601 lyqrkefgkt ftcgsklvhe rthsndkpyk ynecgeaflw ttysnekidt detl
//
LOCUS       XP_047294631             173 aa            linear   PRI 20-MAR-2023
DEFINITION  modulator of macroautophagy TMEM150B isoform X3 [Homo sapiens].
ACCESSION   XP_047294631
VERSION     XP_047294631.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438675.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..173
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..173
                     /product="modulator of macroautophagy TMEM150B isoform X3"
                     /calculated_mol_wt=18945
     Region          <1..146
                     /region_name="Frag1"
                     /note="Frag1/DRAM/Sfk1 family; pfam10277"
                     /db_xref="CDD:431193"
     CDS             1..173
                     /gene="TMEM150B"
                     /gene_synonym="DRAM3; TMEM224; TTN2"
                     /coded_by="XM_047438675.1:270..791"
                     /db_xref="GeneID:284417"
                     /db_xref="HGNC:HGNC:34415"
                     /db_xref="MIM:617291"
ORIGIN      
        1 mgaalaawic ivryhqlrdw gvrrwpnqli lwtgllcalg tsvvgnfqek nqrpthlaga
       61 flafilgnvy fwlqlllwrl krlpqpgaaw igplrlglcs vctilivami vlhacslrsv
      121 saacewvvam llfalfglla vdfsalesct lcvqpwpsls pppaspislp vql
//
LOCUS       XP_047294649             599 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 875 isoform X7 [Homo sapiens].
ACCESSION   XP_047294649
VERSION     XP_047294649.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438693.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..599
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..599
                     /product="zinc finger protein 875 isoform X7"
                     /calculated_mol_wt=68161
     Region          219..235
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          239..598
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          243..263
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          271..291
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          299..319
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          327..347
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(332,334,336,338..339,342..343,346,360,362,366..367,
                     370..371,374,388,390,392,394..395,398..399,402)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          355..375
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          383..403
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          411..431
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          439..459
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          467..487
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          495..515
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          521..541
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(526,528,530,532..533,536..537,540,554,556,560..561,
                     564..565,568,582,584,586,588..589,592..593,596)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          549..569
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          577..597
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..599
                     /gene="ZNF875"
                     /gene_synonym="HKR1"
                     /coded_by="XM_047438693.1:381..2180"
                     /db_xref="GeneID:284459"
                     /db_xref="HGNC:HGNC:4928"
                     /db_xref="MIM:165250"
ORIGIN      
        1 mletynhlvs leipsskpkl iaqlergeap wreerkcpld lcpaeskpei qlspscplif
       61 ssqqalsqhv wlshlsqlfs slwagnplhl gkhypedqkq qqdpfcfsgk aewiqegeds
      121 rllfgrvskn gtskalsspp eeqqpaqske dntvvdigss perradleet dkvlhglevs
      181 gfgeikyeef gpgfikesnl lslqktqtge tpymytewgd sfgsmsvlik nprthsggkp
      241 yvcrecgrgf twksnlithq rthsgekpyv ckdcgrgftw ksnlfthqrt hsglkpyvck
      301 ecgqsfslks nlithqraht gekpyvcrec grgfrqhshl vrhkrthsge kpyicreceq
      361 gfsqkshlir hlrthtgekp yvctecgrhf swksnlkthq rthsgvkpyv clecgqcfsl
      421 ksnlnkhqrs htgekpfvct ecgrgftrks tlsthqrths gekpfvcaec grgfndkstl
      481 ishqrthsge kpfmcrecgr rfrqkpnlfr hkrahsgafv crecgqgfca kltlikhqra
      541 haggkphvcr ecgqgfsrqs hlirhqrths gekpyicrkc grgfsrksnl irhqrthsg
//
LOCUS       XP_047294817             450 aa            linear   PRI 20-MAR-2023
DEFINITION  heterogeneous nuclear ribonucleoprotein M isoform X10 [Homo
            sapiens].
ACCESSION   XP_047294817
VERSION     XP_047294817.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438861.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..450
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..450
                     /product="heterogeneous nuclear ribonucleoprotein M
                     isoform X10"
                     /calculated_mol_wt=47291
     Region          <1..17
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     Region          374..450
                     /region_name="RRM3_hnRNPM"
                     /note="RNA recognition motif 3 (RRM3) found in vertebrate
                     heterogeneous nuclear ribonucleoprotein M (hnRNP M);
                     cd12661"
                     /db_xref="CDD:410062"
     CDS             1..450
                     /gene="HNRNPM"
                     /gene_synonym="CEAR; hnRNP M; HNRNPM4; HNRPM; HNRPM4;
                     HTGR1; NAGR1"
                     /coded_by="XM_047438861.1:253..1605"
                     /db_xref="GeneID:4670"
                     /db_xref="HGNC:HGNC:5046"
                     /db_xref="MIM:160994"
ORIGIN      
        1 mfngqllfdr pmhvkmdera lpkgdffppe rpqqlphglg gigmglgpgg qpidanhlnk
       61 gigmgnigpa gmgmegigfg inkmggmegp fgggmenmgr fgsgmnmgri ngggggsvpg
      121 iermgpgidr lggagmermg aglghgmdrv gseiermglv mdrmgsverm gsgiermgpl
      181 gldhmassie rmgqtmerig sgvermgagm gfglermaap idrvgqtier mgsgvermgp
      241 aiermglsme rmvpagmgag lermgpvmdr matglermga nnlermgler mganslermg
      301 lermgansle rmgpamgpal gagiermgla mgggggasfd raiemergnf ggsfagsfgg
      361 agghapgvar kacqifvrnl pfdftwkmlk dkfnecghvl yadikmengk skgcgvvkfe
      421 spevaeracr mmngmklsgr eidvridrna
//
LOCUS       XP_011531463             669 aa            linear   PRI 20-MAR-2023
DEFINITION  calpain-13 isoform X1 [Homo sapiens].
ACCESSION   XP_011531463
VERSION     XP_011531463.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011533161.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..669
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..669
                     /product="calpain-13 isoform X1"
                     /calculated_mol_wt=76566
     Region          35..331
                     /region_name="Peptidase_C2"
                     /note="Calpain family cysteine protease; pfam00648"
                     /db_xref="CDD:425798"
     Site            order(93,249,273)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:238004"
     Region          347..474
                     /region_name="Calpain_III"
                     /note="Calpain, subdomain III. Calpains are
                     calcium-activated cytoplasmic cysteine proteinases,
                     participate in cytoskeletal remodeling processes, cell
                     differentiation, apoptosis and signal transduction.
                     Catalytic domain and the two calmodulin-like domains
                     are...; cl00165"
                     /db_xref="CDD:444722"
     Site            order(376..378,385)
                     /site_type="other"
                     /note="acidic loop"
                     /db_xref="CDD:238132"
     Region          501..669
                     /region_name="EFh_PEF_CAPN13_14"
                     /note="Penta-EF hand, calcium binding motifs, found in
                     calpain-13 (CAPN13), calpain-14 (CAPN14), and similar
                     proteins; cd16195"
                     /db_xref="CDD:320070"
     Region          501..529
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320070"
     Region          542..571
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320070"
     Site            order(551,555,562)
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:320070"
     Region          572..605
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320070"
     Region          611..639
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320070"
     Region          641..669
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320070"
     CDS             1..669
                     /gene="CAPN13"
                     /coded_by="XM_011533161.4:178..2187"
                     /db_xref="GeneID:92291"
                     /db_xref="HGNC:HGNC:16663"
                     /db_xref="MIM:610228"
ORIGIN      
        1 mayyqepsve tsiikfkdqd fttlrdhcls mgrtfkdetf paadssigqk llqekrlsnv
       61 iwkrpqdlpg gpphfilddi srfdiqqgga adcwflaalg sltqnpqyrq kilmvqsfsh
      121 qyagifrfrf wqcgqwvevv iddrlpvqgd kclfvrprhq nqefwpclle kayakllgsy
      181 sdlhygfled alvdltggvi tnihlhsspv dlvkavktat kagslitcat psgptdtaqa
      241 menglvslha ytvtgaeqiq yrrgweeiis lwnpwgwgea ewrgrwsdgs qeweetcdpr
      301 ksqlhkkred gefwmscqdf qqkfiamfic seipitldhg ntlhegwsqi mfrkqvilgn
      361 taggprndaq fnfsvqepme gtnvvvcvtv avtpsnlkae dakfpldfqv ilagsqrfre
      421 kfppvffssf rntvqssnnk frrnftmtyh lspgnyvvva qtrrksaefl lriflkmpds
      481 drhlsshfnl rmkgspsehg sqqsifnrya qqrldidatq lqgllnqell tgppgdmfsl
      541 decrslvalm elkvngrldq eefarlwkrl vhyqhvfqkv qtspgvllss dlwkaientd
      601 flrgifisre llhlvtlrys dsvgrvsfps lvcflmrlea maktfrnlsk dgkglyltem
      661 ewmslvmyn
//
LOCUS       XP_047296086             272 aa            linear   PRI 20-MAR-2023
DEFINITION  signal-regulatory protein beta-2 isoform X5 [Homo sapiens].
ACCESSION   XP_047296086
VERSION     XP_047296086.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440130.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..272
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..272
                     /product="signal-regulatory protein beta-2 isoform X5"
                     /calculated_mol_wt=29764
     Region          63..166
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          78..82
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          92..96
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          127..131
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          141..146
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          158..161
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..272
                     /gene="SIRPB2"
                     /gene_synonym="dJ776F14.2; PTPN1L; PTPNS1L3"
                     /coded_by="XM_047440130.1:62..880"
                     /db_xref="GeneID:284759"
                     /db_xref="HGNC:HGNC:16247"
ORIGIN      
        1 mcstmsaptc lahlppcfll lalvlvpsda sgqssrndwq vlqpegpmlv aegagdpepd
       61 lwiiqpqelv lgttgdtvfl nctvlgdgpp gpirwfqgag lsreaiynfg gishpketav
      121 qasnndfsil lqnvssedag tyycvkfqrk pnrqylsgqg tslkvkgeti gfglvgraeq
      181 vfnrnfstcp eqasssqppc lyisfslyle cfllfsensy ssfkaqhkwp flcktfsssq
      241 aelisphsgf hrtlyrslii qqtlarhrss ll
//
LOCUS       XP_047297194            2160 aa            linear   PRI 20-MAR-2023
DEFINITION  calcineurin-binding protein cabin-1 isoform X20 [Homo sapiens].
ACCESSION   XP_047297194
VERSION     XP_047297194.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441238.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2160
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..2160
                     /product="calcineurin-binding protein cabin-1 isoform X20"
                     /calculated_mol_wt=239287
     Region          <34..210
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          36..64
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          90..118
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(91,94..95,98..99,101,125,128..129,132..133,135..136,
                     159,162..163,166..167,170)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          123..153
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          158..186
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(991,994..995,998..999,1001,1025,1028..1029,
                     1032..1033,1035,1041,1076,1079..1080,1083..1084,1087)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          991..1018
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1023..1070
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          <1854..2097
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          2096..2130
                     /region_name="MEF2_binding"
                     /note="MEF2 binding; pfam09047"
                     /db_xref="CDD:370261"
     CDS             1..2160
                     /gene="CABIN1"
                     /gene_synonym="CAIN; KB-318B8.7; PPP3IN"
                     /coded_by="XM_047441238.1:139..6621"
                     /db_xref="GeneID:23523"
                     /db_xref="HGNC:HGNC:24187"
                     /db_xref="MIM:604251"
ORIGIN      
        1 miriaalnas stieddhegs fkshktqtke aqeaeafaly hkaldlqkhd rfeesakayh
       61 elleasllre avssgdekeg lkhpglilky styknlaqla aqredletam efyleavmld
      121 stdvnlwyki ghvalrliri plarhafeeg lrcnpdhwpc ldnlitvlyt lsdyttclyf
      181 ickalekdcr yskglvlkek ifeeqpclrk dslrmflkcd msihdvsvsa aetqaivdea
      241 lglrkkrqal ivrekepdlk lvqpipfftw kclgesllam ynhlttcepp rpslgkridl
      301 sdyqdpsqpl essmvvtpvn viqpstvstn pavavaepvv sytsvattsf plhspgllet
      361 gapvgdisgg dkskkgvkrk kiseesgeta krrsarvrnt kckkeekvdf qellmkflps
      421 rlrkldpeee ddsfnnyevq seaklesfps igpqrlsfds atfmesekqd vhefllenlt
      481 nggilelmmr ylkamghkfl vrwppglaev vlsvyhswrr hstslpnpll rdcsnkhikd
      541 mmlmslscme lqldqwlltk grssavsprn cpagmvngrf gpdfpgthcl gdllqlsfas
      601 sqrdlfedgw lefvvrvywl karflalqgd meqalenydi ctemlqssta iqveagaerr
      661 divirlpnlh ndsvvsleed sllrlkdyrq cfecsdvaln eavqqmvnsg eaaakeewva
      721 tvtqllmgie qalsadssgs ilkvsssttg lvrltnnliq vidcsmavqe eakephvssv
      781 lpwiilhrii wqeedtfhsl chqqqlqnpa eegmsetpml psslmllnta heylgrrswc
      841 cnsdgallrf yvrvlqkela astsedthpy keeletaleq cfyclysfps kkskarylee
      901 hsaqqvdliw edalfmfeyf kpktlpefds yktstvsadl anllkriati vprterpals
      961 ldkvsayieg tstevpclpe gadpsppvvn elyylladyh fknkeqskai kfymhdicic
     1021 pnrfdswagm alarasriqd klnsnelksd gpiwkhatpv lncfrralei dssnlslwie
     1081 ygtmsyalhs fasrqlkqwr gelppelvqq megrrdsmle takhcftsaa rcegdgdeee
     1141 wlihymlgkv aekqqqpptv yllhyrqagh ylheeaaryp kkihyhnppe lamealevyf
     1201 rlhasilkll gkpdsgvgae vlvnfmkeaa egpfargeek ntpkasekek aclvdedshs
     1261 sagtlpgpga slpsssgpgl tsppytatpi dhdyvkckkp hqqatpddrs qdstavalsd
     1321 ssstqdffne ptsllegsrk sytekrlpil ssqagatgkd lqgateergk neeslesteg
     1381 fraaeqgvqk paaetpasac ipgkpsastp tlwdgkkrgd lpgepvafpq glpagaeeqr
     1441 qflteqcias frlclsrfpq hykslyrlaf lytyskthrn lqwardvllg ssipwqqlqh
     1501 mpaqglfcer nktnffngiw ripvdeidrp gsfawhmnrs ivlllkvlaq lrdhstllkv
     1561 ssmlqrtpdq gkkylrdadr qvlaqrafil tvkvledtls elaegserpg pkvcglpgar
     1621 mttdvshkas pedgqeglpq pkkppladgs gpgpepggkv gllnhrpvam dagdsadqsg
     1681 erkdkespra gptepmdtse atvchsdler tppllpgrpa rdrgpesrpt elsleelsis
     1741 arqqptpltp aqpapapapa tttgtraggh peeplsrlsr krklledtes gktllldayr
     1801 vwqqgqkgva ydlgrverim setymlikqh lpvkvdeeaa leqavkfcqv hlgaaaqrqa
     1861 sgdtpttpkh pkdsrenffp vtvvptapdp vpadsvqrps dahtkprpal aaattiitcp
     1921 psasastldq skdpgpprph rpeatpsmas lgpegeelar vaegtsfppq eprhspqvkm
     1981 aptsspaeph cwpaeaalgt gaeptcsqeg klrpeprrdg eaqeaasetq plsspptaas
     2041 skapssgsaq ppeghpgkpe psraksrplp nmpklvipsa atkfppeitv tpptptllsp
     2101 kgsiseetkq klksailsaq saanvrkesl cqpalevlet ssqesslese tdedddymdi
//
LOCUS       XP_011510896            1147 aa            linear   PRI 20-MAR-2023
DEFINITION  phospholipid-transporting ATPase IF isoform X3 [Homo sapiens].
ACCESSION   XP_011510896
VERSION     XP_011510896.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011512594.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1147
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1147
                     /product="phospholipid-transporting ATPase IF isoform X3"
                     /calculated_mol_wt=130934
     Region          41..979
                     /region_name="P-type_ATPase_APLT_Dnf-like"
                     /note="Aminophospholipid translocases (APLTs), similar to
                     Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2,
                     -10D, -11B, -11C; cd02073"
                     /db_xref="CDD:319770"
     Site            order(407..409,572,595..597,659,706..708,794,797,800,821,
                     824)
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:319770"
     Region          954..>1081
                     /region_name="UgpA"
                     /note="ABC-type sugar transport system, permease component
                     [Carbohydrate transport and metabolism]; COG1175"
                     /db_xref="CDD:224096"
     CDS             1..1147
                     /gene="ATP11B"
                     /gene_synonym="ATPIF; ATPIR"
                     /coded_by="XM_011512594.3:257..3700"
                     /db_xref="GeneID:23200"
                     /db_xref="HGNC:HGNC:13553"
                     /db_xref="MIM:605869"
ORIGIN      
        1 mwrwirqqlg fdpphqsdtr tiyvanrfpq nglytpqkfi dnriisskyt vwnfvpknlf
       61 eqfrrvanfy fliiflvqlm idtptspvts glplffvitv taikqgyedw lrhnsdnevn
      121 gapvyvvrsg glvktrskni rvgdivriak deifpadlvl lssdrldgsc hvttasldge
      181 tnlkthvavp etallqtvan ldtlvaviec qqpeadlyrf mgrmiitqqm eeivrplgpe
      241 slllrgarlk ntkeifgvav ytgmetkmal nyksksqkrs aveksmntfl iiylvilise
      301 avistilkyt wqaeekwdep wynqktehqr nsskilrfis dflaflvlyn fiipislyvt
      361 vemqkflgsf figwdldlyh eesdqkaqvn tsdlneelgq veyvftdktg tltenemqfr
      421 ecsingmkyq eingrlvpeg ptpdssegnl sylsslshln nlshlttsss frtspenete
      481 likehdlffk avslchtvqi snvqtdctgd gpwqsnlaps qleyyasspd ekalveaaar
      541 igivfignse etmevktlgk lerykllhil efdsdrrrms vivqapsgek llfakgaess
      601 ilpkciggei ektrihvdef alkglrtlci ayrkftskey eeidkrifea rtalqqreek
      661 laavfqfiek dlillgatav edrlqdkvre tiealrmagi kvwvltgdkh etavsvslsc
      721 ghfhrtmnil elinqksdse caeqlrqlar ritedhviqh glvvdgtsls lalreheklf
      781 mevcrncsav lccrmaplqk akvirlikis pekpitlavg dgandvsmiq eahvgigimg
      841 kegrqaarns dyaiarfkfl skllfvhghf yyiriatlvq yffyknvcfi tpqflyqfyc
      901 lfsqqtlyds vyltlynicf tslpiliysl leqhvdphvl qnkptlyrdi sknrllsikt
      961 flywtilgfs hafifffgsy lligkdtsll gngqmfgnwt fgtlvftvmv itvtvkmale
     1021 thfwtwinhl vtwgsiifyf vfslfyggil wpflgsqnmy fvfiqllssg sawfaiilmv
     1081 vtclfldiik kvfdrhlhpt stekaqmeed kgsvssayef aesqhrgeds rhllaeacsq
     1141 qdsccvh
//
LOCUS       XP_047304029             632 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 860 isoform X1 [Homo sapiens].
ACCESSION   XP_047304029
VERSION     XP_047304029.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448073.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..632
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..632
                     /product="zinc finger protein 860 isoform X1"
                     /calculated_mol_wt=73626
     Region          24..64
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          232..252
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          260..280
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          284..617
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          288..308
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(293,295,297,299..300,303..304,307,321,323,327..328,
                     331..332,335,349,351,353,355..356,359..360,363)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          316..336
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          344..364
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          372..392
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          400..420
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          428..448
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          456..476
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(461,463,465,467..468,471..472,475,489,491,495..496,
                     499..500,503,517,519,521,523..524,527..528,531)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          484..504
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          512..532
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          540..560
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          596..616
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..632
                     /gene="ZNF860"
                     /coded_by="XM_047448073.1:2911..4809"
                     /db_xref="GeneID:344787"
                     /db_xref="HGNC:HGNC:34513"
ORIGIN      
        1 mlreeaaqkr kekepgmalp qghltfrdva iefsleewkc ldptqralyr ammlenyrnl
       61 hsvdisskcm mkkfsstaqg ntevdtgtle rheshhigdf cfqkigkdih dfefqwqedk
      121 rnsheatmtq ikkltgstdr ydrrhpgnkp ikdqlglsfh shlpelhifq tkgkvgnqve
      181 ksindassvl tsqrissrpk ihisnnyenn ffhsslltlk qevhireksf qcnesgkafn
      241 cssllrkhqi iylggkqykc dvcgkvfnqk rylachhrch tgekpykcne cgkvfnqqsn
      301 lashhrlhtg ekpykceecd kvfsrksnle rhrrihtgek pykckvceka frrdshltqh
      361 trihtgekpy kcnecgkafs gqstlihhqa ihgigklykc ndchkvfsna ttianhwrih
      421 neersykcnk cgkffrrrsy lvvhwrthtg ekpykcnecg ktfhhnsalv ihkaihtgek
      481 pykcnecgkt frhnsalvih kaihtgekpy kcnecgkvfn qqatlarhhr lhtgekpykc
      541 eecdtvfsrk shhethkrih tgekpykcdd fdeafsqass yakqrrihmg ekhhkcddcg
      601 kaftshshri rhqrihtgqk sykchkrgkv fs
//
LOCUS       XP_011532403            1248 aa            linear   PRI 20-MAR-2023
DEFINITION  peregrin isoform X1 [Homo sapiens].
ACCESSION   XP_011532403
VERSION     XP_011532403.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534101.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1248
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1248
                     /product="peregrin isoform X1"
                     /calculated_mol_wt=140806
     Region          <20..52
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          174..657
                     /region_name="COG5141"
                     /note="PHD zinc finger-containing protein [General
                     function prediction only]"
                     /db_xref="CDD:227470"
     Region          330..450
                     /region_name="ePHD_BRPF1"
                     /note="Extended PHD finger found in bromodomain and PHD
                     finger-containing protein 1 (BRPF1) and similar proteins;
                     cd15701"
                     /db_xref="CDD:277171"
     Site            order(385,396..400,406,442)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277171"
     Region          632..729
                     /region_name="Bromo_brd1_like"
                     /note="Bromodomain; brd1_like subfamily. BRD1 is a
                     mammalian gene which encodes for a nuclear protein assumed
                     to be a transcriptional regulator. BRD1 has been
                     implicated with brain development and susceptibility to
                     schizophrenia and bipolar affective disorder; cd05512"
                     /db_xref="CDD:99944"
     Site            order(657,662,665,704,708,714)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99944"
     Region          1117..1236
                     /region_name="PWWP_BRPF1"
                     /note="PWWP domain found in bromodomain and PHD
                     finger-containing protein 1 (BRPF1); cd20156"
                     /db_xref="CDD:438984"
     Site            order(1130,1133,1153..1155,1158,1160,1164,1180..1181,1183,
                     1185..1189)
                     /site_type="other"
                     /note="methyl-histone binding site [polypeptide binding]"
                     /db_xref="CDD:438984"
     Site            1131..1134
                     /site_type="other"
                     /note="PWWP sequence motif"
                     /db_xref="CDD:438984"
     CDS             1..1248
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /coded_by="XM_011534101.2:415..4161"
                     /db_xref="GeneID:7862"
                     /db_xref="HGNC:HGNC:14255"
                     /db_xref="MIM:602410"
ORIGIN      
        1 mgvdfdvktf chnlratkpp yecpvetcrk vyksysgiey hlyhydhdnp pppqqtplrk
       61 hkkkgrqsrp ankqspspse vsqspgrevm syaqaqrmve vdlhgrvhri sifdnldvvs
      121 edeeapeeap engsnkente tpaatpksgk hknkekrkds nhhhhhnvsa sttpklpevv
      181 yreleqdtpd apprptsyyr yieksaeeld eeveydmdee dyiwldimne rrktegvspi
      241 pqeifeylmd rlekesyfes hnkgdpnalv dedavccicn dgecqnsnvi lfcdmcnlav
      301 hqecygvpyi pegqwlcrrc lqspsravdc alcpnkggaf kqtddgrwah vvcalwipev
      361 cfantvflep idsiehippa rwkltcyick qrgsgaciqc hkancytafh vtcaqqagly
      421 mkmepvretg angtsfsvrk taycdihtpp gsarrlpals hsegeedede eedegkgwss
      481 ekvkkakaks rikmkkarki laekraaapv vsvpcipphr lskitnrlti qrksqfmqrl
      541 hsywtlkrqs rngvpllrrl qthlqsqrnc dqvgrdsedk nwalkeqlks wqrlrhdler
      601 arllvelirk reklkretik vqqiamemql tpflillrkt leqlqekdtg nifsepvpls
      661 evpdyldhik kpmdfftmkq nleayrylnf ddfeedfnli vsnclkynak dtifyraavr
      721 lreqggavlr qarrqaekmg idfetgmhip hslagdeath htedaaeeer lvllenqkhl
      781 pveeqlklll erldevnask qsvgrsrrak mikkemtalr rklahqretg rdgperhgps
      841 srgsltphpa acdkdgqtds aaeesssqet skglgpnmss tpahevgrrt svlfskknpk
      901 tagppkrpgr ppknresqmt pshggspvgp pqlpimsslr qrkrgrsprp ssssdsdsdk
      961 stedppmdlp angfsggnqp vkksflvyrn dcslprsssd sessssssss aasdrtsttp
     1021 skqgrgkpsf srgtfpedss edtsgtenea ysvgtgrgvg hsskfpcprp gmlgtqcqgl
     1081 asppaadppp lphscevvrk slgrgagwls ededspldal dlvwakcrgy psypaliidp
     1141 kmpregmfhh gvpipvpple vlklgeqmtq earehlylvl ffdnkrtwqw lprtklvplg
     1201 vnqdldkekm legrksnirk svqiayhral qhrskvqgeq ssetsdsd
//
LOCUS       XP_047304942             938 aa            linear   PRI 20-MAR-2023
DEFINITION  polyhomeotic-like protein 3 isoform X8 [Homo sapiens].
ACCESSION   XP_047304942
VERSION     XP_047304942.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448986.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..938
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..938
                     /product="polyhomeotic-like protein 3 isoform X8"
                     /calculated_mol_wt=101367
     Region          299..>473
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     Region          869..937
                     /region_name="SAM_Ph1,2,3"
                     /note="SAM domain of Ph (polyhomeotic) proteins of
                     Polycomb group; cd09577"
                     /db_xref="CDD:188976"
     Site            order(887..888,922..923,926..927,930)
                     /site_type="other"
                     /note="oligomer interface EH [polypeptide binding]"
                     /db_xref="CDD:188976"
     Site            order(898..902,904..905,908..909,913,918)
                     /site_type="other"
                     /note="oligomer interface ML [polypeptide binding]"
                     /db_xref="CDD:188976"
     CDS             1..938
                     /gene="PHC3"
                     /gene_synonym="EDR3; HPH3"
                     /coded_by="XM_047448986.1:19..2835"
                     /db_xref="GeneID:80012"
                     /db_xref="HGNC:HGNC:15682"
                     /db_xref="MIM:620031"
ORIGIN      
        1 maeaefkdhs tamdtepnpg tssvstttss tttttittss srmqqpqisv ysgsdrhavq
       61 alhrppssaa qylqqmyaaq qqhlmlhtaa lqqqhlsssq lqslaavqas lssgrpstsp
      121 tgsvtqqssm sqtsliftpa ttvaavqsdi pvvsssssss cqsaatqvqn ltlrsqklgv
      181 lsssqngppk stsqtqslti chnkttvtss kisqrdpspe snkkgespsl esrstavtrt
      241 ssihqliapa syspiqphsl ikhqqiplhs ppskvshhql ilqqqqqqiq pitlqnstqd
      301 pppsqhcipl qnhglppaps naqsqhcspi qshpspltvs pnqsqsaqqs vvvspppphs
      361 psqsptiiih pqaliqphpl vssalqpgpn lqqstanqvq ataqlnlpsh lplpaspvvh
      421 igpvqqsalv spgqqivsps hqqysslqss pipiasppqm stsppaqipp lplqsmqslq
      481 vqpeilsqgq vlvqnalvse eelpaaealv qlpfqtlppp qtvavnlqvq ppapvdppvv
      541 yqvedvceee mpeesdecvr mdrtpppptl spaaitvgrg edltsehpll eqvelpavas
      601 vsasviksps dpshvsvppp plllpaattr snstsmhssi psienkppqa ivkpqilthv
      661 iegfviqegl epfpvsrssl lieqpvkkrp lldnqvinsv cvqpelqnnt khadnssdte
      721 medmiaeetl eemdsellkc efcgkmgyan eflrskrfct mscakrynvs cskkfalsrw
      781 nrkpdnqslg hrgrrpsgpd gaarehilrq lpitypsaee dlashedsvp samttrlrrq
      841 serererelr dvrirkmpen sdllpvaqte psiwtvddvw afihslpgcq diadefraqe
      901 idgqallllk edhlmsamni klgpalkica rinslkes
//
LOCUS       XP_024301780             440 aa            linear   PRI 20-MAR-2023
DEFINITION  gamma-aminobutyric acid receptor subunit pi isoform X1 [Homo
            sapiens].
ACCESSION   XP_024301780
VERSION     XP_024301780.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024446012.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..440
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..440
                     /product="gamma-aminobutyric acid receptor subunit pi
                     isoform X1"
                     /calculated_mol_wt=50509
     Region          43..437
                     /region_name="LIC"
                     /note="Cation transporter family protein; cl42365"
                     /db_xref="CDD:455710"
     Region          60..241
                     /region_name="LGIC_ECD"
                     /note="extracellular domain (ECD) of Cys-loop
                     neurotransmitter-gated ion channels (also known as
                     ligand-gated ion channel (LGIC)); cl28912"
                     /db_xref="CDD:452896"
     Site            order(71,73,79..80,87,104,106,118..119,121,123..124,
                     137..139,141,151,153,155,159,181,241)
                     /site_type="other"
                     /note="pentamer interface [polypeptide binding]"
                     /db_xref="CDD:349787"
     CDS             1..440
                     /gene="GABRP"
                     /coded_by="XM_024446012.2:243..1565"
                     /db_xref="GeneID:2568"
                     /db_xref="HGNC:HGNC:4089"
                     /db_xref="MIM:602729"
ORIGIN      
        1 mnyslhlafv clslftermc iqgsqfnvev grsdklslpg fenltagynk flrpnfggep
       61 vqialtldia sissisesnm dytatiylrq rwmdqrlvfe gnksftldar lveflwvpdt
      121 yiveskksfl hevtvgnrli rlfsngtvly alritttvac nmdlskypmd tqtcklqles
      181 wgydgndvef twlrgndsvr glehlrlaqy tieryftlvt rsqqetgnyt rlvlqfelrr
      241 nvlyfilety vpstflvvls wvsfwislds vpartcigvt tvlsmttlmi gsrtslpntn
      301 cfikaidvyl gicfsfvfga lleyavahys slqqmaakdr gttkeveevs itniinssis
      361 sfkrkisfas ieissdnvdy sdltmktsdk fkfvfrekmg rivdyftiqn psnvdhyskl
      421 lfplifmlan vfywayymyf
//
LOCUS       XP_005268609             389 aa            linear   PRI 20-MAR-2023
DEFINITION  death ligand signal enhancer isoform X3 [Homo sapiens].
ACCESSION   XP_005268609
VERSION     XP_005268609.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005268552.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..389
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..389
                     /product="death ligand signal enhancer isoform X3"
                     /calculated_mol_wt=42562
     Region          228..>383
                     /region_name="TPR"
                     /note="TPR repeat [Signal transduction mechanisms];
                     COG0790"
                     /db_xref="CDD:223861"
     Region          260..289
                     /region_name="SLR repeat"
                     /note="SLR repeat [structural motif]"
                     /db_xref="CDD:276807"
     Region          296..324
                     /region_name="SLR repeat"
                     /note="SLR repeat [structural motif]"
                     /db_xref="CDD:276807"
     Region          326..367
                     /region_name="SLR repeat"
                     /note="SLR repeat [structural motif]"
                     /db_xref="CDD:276807"
     CDS             1..389
                     /gene="DELE1"
                     /gene_synonym="DELE; DELE1(L); KIAA0141"
                     /coded_by="XM_005268552.3:72..1241"
                     /db_xref="GeneID:9812"
                     /db_xref="HGNC:HGNC:28969"
                     /db_xref="MIM:615741"
ORIGIN      
        1 mwrlpgllgr alprtlgpsl wrvtpkstsp dgpqttsstl lvpvpnldrs gphgpgtsgg
       61 prshgwkdaf qwmssrvspn tlwdaiswgt lavlalqlar qihfqaslpa gpqrvehcsw
      121 hspldrffss plwhpcsslr qhilpspdgp aprhtglrep rlgqeeasaq prnfshnslr
      181 garpqdpsee gpgdfgflha sssieseakp aqpqptgeke qdksktlsle eavtsiqqlf
      241 qlsvsiafnf lgtenmksgd htaafsyfqk aaargyskaq ynaglchehg rgtprdiska
      301 vlyyqlaasq ghslaqyrya rcllrdpass wnperqravs llkqaadsgl reaqaflgvl
      361 ftkepyldeq ravkylwlaa nngprgpat
//
LOCUS       XP_011533861            1062 aa            linear   PRI 20-MAR-2023
DEFINITION  adenylate kinase 9 isoform X15 [Homo sapiens].
ACCESSION   XP_011533861
VERSION     XP_011533861.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011535559.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1062
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1062
                     /product="adenylate kinase 9 isoform X15"
                     /calculated_mol_wt=122307
     Region          105..348
                     /region_name="NK"
                     /note="Nucleoside/nucleotide kinase (NK) is a protein
                     superfamily consisting of multiple families of enzymes
                     that share structural similarity and are functionally
                     related to the catalysis of the reversible phosphate group
                     transfer from nucleoside triphosphates...; cl17190"
                     /db_xref="CDD:450170"
     Site            order(109,114..117)
                     /site_type="active"
                     /db_xref="CDD:238977"
     Region          1017..1059
                     /region_name="COG3350"
                     /note="Uncharacterized conserved protein, YHS domain
                     [Function unknown]"
                     /db_xref="CDD:225886"
     CDS             1..1062
                     /gene="AK9"
                     /gene_synonym="AK 9; AKD1; AKD2; C6orf199; C6orf224;
                     dJ70A9.1"
                     /coded_by="XM_011535559.4:744..3932"
                     /db_xref="GeneID:221264"
                     /db_xref="HGNC:HGNC:33814"
                     /db_xref="MIM:615358"
ORIGIN      
        1 mhtlpdhqlr kkykrlclss kdpictavat gttsllnlqk stliccalss fyksktgeis
       61 rivhllncvf cvmtsqekte eypfadifde deternflls kpvcfvvfgk pgvgkttlar
      121 yitqawkcir vealpileeq iaaetesgvm lqsmlisgqs ipdelviklm leklnspevc
      181 hfgyiiteip slsqdamttl qqieliknln lkpdviinik cpdydlcqri sgqrqhnntg
      241 yiysrdqwdp evienhrkkk keaqkdgkge eeeeeeeqee eeafiaemqm vaeilhhlvq
      301 rpedylenve nivklyketi lqtleevmae hnpqylieln gnkpaeelfm ivmdrlkyln
      361 lkraailtkl qgaeeeindt mendelfrtl asykliapry rwqrskwgrt cpvnlkdgni
      421 ysglpdysvs flgkiyclss eealkpflln prpyllppmp gppckvfilg pqysgkttlc
      481 nmlaenykgk vvdyaqlvqp rfdkaretlv entiaeataa aikvvkekll relqarkqae
      541 talrefqrqy ekmefgvfpm eathssidee gyiqgsqrdr gsslvdteea ktksenvlhd
      601 qaakvdkddg ketgetftfk rhsqdasqdv klysdtapte dlieevtadh pevvtmieet
      661 ikmsqdinfe qpyekhaeil qevlgevmee nkdrfpgapk yggwivdncp ivkelwmali
      721 kkgiipdlvi ylsdtenngk clfnriylqk kseidskile rlleelqkkk keeeearkat
      781 eeelrleeen rrllelmkvk akeaeetdne deeeiegdel evheepeash dtrgswlpee
      841 feasevpete peavsepiee ttveteipkg skegleiekl setvvlpefp edsypdvpem
      901 epfkekigsf iilwkqleat iseayikiln leiadrtpqe llqkvvetme kpfqytawel
      961 tgedyeeete dyqteaevde eleeeeeeeg edkmkerkrh lgdtkhfcpv vlkenfilqp
     1021 gnteeaakyr ekiyyfssae akekflehpe dyvaheeplk pl
//
LOCUS       XP_016865988             684 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 6 isoform X18 [Homo
            sapiens].
ACCESSION   XP_016865988
VERSION     XP_016865988.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017010499.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..684
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..684
                     /product="ankyrin repeat domain-containing protein 6
                     isoform X18"
                     /calculated_mol_wt=75240
     Region          89..288
                     /region_name="ANKYR"
                     /note="Ankyrin repeat [Signal transduction mechanisms];
                     COG0666"
                     /db_xref="CDD:223738"
     Region          101..130
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(132,134,138..139,142..144,146..147,151,154,163,165,
                     167,171..172,175..177,179..180,184,187,196,198,200,
                     204..205,208..210,212..213,217,220,229)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          132..163
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          137..229
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          165..196
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          198..229
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..684
                     /gene="ANKRD6"
                     /coded_by="XM_017010499.2:135..2189"
                     /db_xref="GeneID:22881"
                     /db_xref="HGNC:HGNC:17280"
                     /db_xref="MIM:610583"
ORIGIN      
        1 mtssglewdy yefqpvetss ldyatpgans fllpanrvns hwsanaisdw smsnhiapas
       61 eivqdavatv kamkedknkk nhrgkvrkdp rrserekegd qtalhratvv gnteiiaali
      121 hegcaldrqd kdgntalhea swhgfsqsak llikaganvl aknkagntal hlacqnshsq
      181 strvlllags radlknnagd talhvaaaln hkkvakille agadttivnn agqtpletar
      241 yhnnpevall ltkapqgsvs agdtpsseqa varkeearee flsaspepra kddrrrksrp
      301 kvsafsdptp padqqpghqk nlhahnhpkk rnrhrcsspp pphefrayql ytlyrgkdgk
      361 vmqapingcr ceplinklen qleatveeik aelgsvqdkm ntklgqmenk tqhqmrvldk
      421 lmverlsaer teclnrlqqh sdtekhegek rqislvdelk twcmlkiqnl eqklsgdsra
      481 crakstpstc esstgvdqlv vtagpaaasd ssppvvrpke kalnstatqr lqqelsssdc
      541 tgsrlrnvkv qtallpmnea arsdqqagpc vnrgtqtkks gksgptrhra qqpaasstcg
      601 qpppatgseq tgphirdtsq aleltqyffe avstqmekwy erkieearsq anqkaqqdka
      661 tlkehiksle eelaklrtrv qken
//
LOCUS       XP_016866433            4074 aa            linear   PRI 20-MAR-2023
DEFINITION  fibrocystin isoform X1 [Homo sapiens].
ACCESSION   XP_016866433
VERSION     XP_016866433.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017010944.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4074
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..4074
                     /product="fibrocystin isoform X1"
                     /calculated_mol_wt=446573
     Region          260..339
                     /region_name="IPT_PCSR"
                     /note="IPT domain of Plexins and Cell Surface Receptors
                     (PCSR) and related proteins . This subgroup contains IPT
                     domains of plexins, receptors, like the
                     plasminogen-related growth factor receptors, the
                     hepatocyte growth factor-scatter factors, and the...;
                     cd00603"
                     /db_xref="CDD:238337"
     Region          931..1004
                     /region_name="TIG"
                     /note="IPT/TIG domain; pfam01833"
                     /db_xref="CDD:426462"
     Region          1019..1103
                     /region_name="IPT_PCSR"
                     /note="IPT domain of Plexins and Cell Surface Receptors
                     (PCSR) and related proteins . This subgroup contains IPT
                     domains of plexins, receptors, like the
                     plasminogen-related growth factor receptors, the
                     hepatocyte growth factor-scatter factors, and the...;
                     cd00603"
                     /db_xref="CDD:238337"
     Region          1108..1192
                     /region_name="TIG"
                     /note="IPT/TIG domain; pfam01833"
                     /db_xref="CDD:426462"
     Region          1197..1294
                     /region_name="IPT_PCSR"
                     /note="IPT domain of Plexins and Cell Surface Receptors
                     (PCSR) and related proteins . This subgroup contains IPT
                     domains of plexins, receptors, like the
                     plasminogen-related growth factor receptors, the
                     hepatocyte growth factor-scatter factors, and the...;
                     cd00603"
                     /db_xref="CDD:238337"
     Region          1389..1479
                     /region_name="IPT_PCSR"
                     /note="IPT domain of Plexins and Cell Surface Receptors
                     (PCSR) and related proteins . This subgroup contains IPT
                     domains of plexins, receptors, like the
                     plasminogen-related growth factor receptors, the
                     hepatocyte growth factor-scatter factors, and the...;
                     cd00603"
                     /db_xref="CDD:238337"
     Region          1486..1569
                     /region_name="TIG"
                     /note="IPT/TIG domain; pfam01833"
                     /db_xref="CDD:426462"
     Region          1573..>1640
                     /region_name="IPT_PCSR"
                     /note="IPT domain of Plexins and Cell Surface Receptors
                     (PCSR) and related proteins . This subgroup contains IPT
                     domains of plexins, receptors, like the
                     plasminogen-related growth factor receptors, the
                     hepatocyte growth factor-scatter factors, and the...;
                     cd00603"
                     /db_xref="CDD:238337"
     Region          1933..2049
                     /region_name="G8"
                     /note="G8 domain; pfam10162"
                     /db_xref="CDD:431100"
     Region          2290..2447
                     /region_name="Beta_helix"
                     /note="Right handed beta helix region; pfam13229"
                     /db_xref="CDD:433046"
     Region          2749..2872
                     /region_name="G8"
                     /note="G8 domain; pfam10162"
                     /db_xref="CDD:431100"
     Region          3002..3176
                     /region_name="Beta_helix"
                     /note="Right handed beta helix region; pfam13229"
                     /db_xref="CDD:433046"
     CDS             1..4074
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; FPC; PKD4; TIGM1"
                     /coded_by="XM_017010944.3:103..12327"
                     /db_xref="GeneID:5314"
                     /db_xref="HGNC:HGNC:9016"
                     /db_xref="MIM:606702"
ORIGIN      
        1 mtawlislms ievlllavrh lslhiepeeg slaggtwitv ifdglelgvl ypnngsqlei
       61 hlvnvnmvvp alrsvpcdvf pvfldlpvvt crtrsvlsea heglyfleay fggqlvsspn
      121 pgprdsctfk fskaqtpivh qvyppsgvpg klihvygwii tgrletfdfd aeyidspvil
      181 eaqgdkwvtp cslinrqmgs cypiqedhgl gtlqchvegd yigsqnvsfs vfnkgksmvh
      241 kkawlisakq dlflyqthse ilsvfpetgs lggrtnitit gdffdnsaqv tiagipcdir
      301 hvsprkiect trapgkdvrl ttpqpgnrgl lfevgdaveg lelteatpgy rwqivpnass
      361 pfgfwsqegq pfrarlsgff vapetnnytf wiqadsqasl hfswseeprt kvkvasisvg
      421 tadwfdsweq nrdegtwqqk tpklellgga myyleaehhg iapsrgmrig vqihntwlnp
      481 dvvttylrek hqirvraqrl pevqvlnvsg rgnffltwdn vssqpipana tahliqttie
      541 ellavkckle plwsnillrl gfergpevsn sdgdltsgte pfcgrfslrq prhlvltppa
      601 aqkgyrldqy thlclaykgh mnkilkmivs ftigfqnmvk nttcdwsltr tspeswqfdc
      661 tdlwetcvrc fgdlqpppan spvlvhqinl lplaqetglf yvdeiiiadt nvtvsqadsg
      721 tarpggnlve svsvvgsppv ysvtswlagc gtelplitar svptegteeg sglvlvttqr
      781 rqrtspplgg hfriqlpntv isdvpvqisa hhlhqllqnn addftsryln asdftvkedl
      841 ytcyehvwtl swstqigdlp nfirvsdenl tgvnpaaatr vvydggvflg pifgdmlata
      901 nqhtqvvvrv ndvpahcpgs csfqylqgst pcvhsvwysi dgdinlmiyi tgtgfsgdsq
      961 flqvtvnkts ckvifsnqtn vvcqtdllpv gmhrilmlvr psglaisatg edlflnvkpr
     1021 ldmvepsraa digglwatir gsslegvsli lfgsyscain vatsnssriq ckvpprgkdg
     1081 rivnvtvirg dysavlpraf tyvsslnpvi vtlsrnisni aggetlvigv arlmnytdld
     1141 vevhvqdala pvhtqsawgl evalpplpag lhrisvsing vsihsqgvdl hiqyltevfs
     1201 iepccgsllg gtilsisgig fsrdpalvwv lvgnrscdiv nlteasiwce tlpapqipda
     1261 gaptvpaave vwagnrffar gpspslvgkg ftfmyeaaat pvvtamqgei tnsslslhvg
     1321 gsnlsnsvil lgnlncdvet qsfqgnvsls gcsiplhsle agiyplqvrq kqmgfanmsv
     1381 vlqqfavmpr imaifpsqgs acggtiltvr glllnsrrrs vrvdlsgpft cvilslgdht
     1441 ilcqvslegd plpgasfsln vtvlvnglts ecqgnctlfi reeaspvmda lstntsgslt
     1501 tvlirgqrla ttadepmvfv ddqlpcnvtf fnashvvcqt rdlapgphyl svfytrngya
     1561 csgnvsrhfy impqvfhyfp knfslhggsl ltiegtglrg qnttsvyidq qtcltvniga
     1621 elircivptg ngsvaleiev dglwyhigvi gynkaftpel isisqsddil tfavaqisga
     1681 anidifigms pcvgvsgnht vlqcvvpslp ageyhvrgyd cirgwassal vftsrviita
     1741 vtenfgclgg rlvhvfgagf spgnvsaavc gapcrvlana tvsafsclvl pldvslaflc
     1801 glkreedsce aarhtyvqcd ltvamateql leswpylyic eessqclfvp dhwaesmfps
     1861 fsglfispkl erdevliyns scnitmetea emecetpnqp itvkiteirk rwgqntqgnf
     1921 slqfcrrwsr thswfperlp qdgdnvtven gqlllldtnt silnllhikg gklifmapgp
     1981 ielrahailv sdggelrigs edkpfqgraq itlygssyst pffpygvkfl avrngtlslh
     2041 gslpevivtc lratahaldt vlaledavdw npgdevviis gtgvkgakpm eeivtvetvq
     2101 dtdlylkspl ryshnftenw vagehhilka tvallsrsit iqgnltnere kllvscqean
     2161 apegnlqhcl ysmsekmlgs rdmgarvivq sfpeepsqvq lkgvqfqvlg qafhkhlssl
     2221 tlvgamresf iqgctvrnsf srglsmcgtl glkvdsnvfy nilghallvg tctemryisw
     2281 eaihgrkddw sghgniirnn viiqvsgaeg lsnpemltps giyicsptnv iegnrvcgag
     2341 ygyffhlmtn qtsqapllsf tqniahsctr yglfvypkfq ppwdnvtgtt lfqsftvwes
     2401 aggaqifrss nlrlknfkvy scrdfgidvl esdantsvtd slllghfahk gslcmssgik
     2461 tpkrwelmvs nttfvnfdli ncvairtcsd csqgqggftv ktsqlkftns snlvafpfph
     2521 aailedldgs lsgknrshil asmetlsasc lvnssfgrvv hgsacgggvl fhrmsiglan
     2581 tpevsydltm tdsrnktttv nyvrdtlsnp rgwmallldq etyslqsenl winrslqysa
     2641 tfdnfapgny lllvhtdlpp ypdillrcgs rvglsfpflp spgqnqgcdw ffnsqlrqlt
     2701 ylvsgegqvq vilrvkegmp ptisastsap esalkwslpe twqgveegwg gynntipgpg
     2761 ddvlilpnrt vlvdtdlpff kglyvmgtld fpvdrsnvls vacmviagge lkvgtlenpl
     2821 ekeqkllill rasegvfcdr mngihidpgt igvygkvhly saypknswth lgadiasgne
     2881 riivedavdw rphdkivlss ssyepheaev ltvkevkghh vriyerlkhr higsvhvted
     2941 grhirlaaev glltrniqiq pdvscrgrlf vgsfrkssre efsgvlqlln veiqnfgspl
     3001 yssvefsnvs agswiisstl hqscgggiha aashgvllnd nivfgtaghg idlegqaytv
     3061 tnnlvvlmtq pawstiwvag ikvnqvkdin lhgnvvagse rlgfhirghk csscellwsd
     3121 nvahsslhgl hlykesgldn ctrisgflaf knfdygamlh vensveieni tlvdntigll
     3181 avvyvfsapq nsvkkvqivl rnsvivatss sfdciqdkvk phsanltstd rapsnprggr
     3241 igilwpvfts epnqwpqepw hkvrndhsis gimklqdvtf ssfvkscysd dldvcilpna
     3301 ensgimhpit aertrmlkik dknkfyfpsl qprkdlgkvv cpeldcaspr kylfkdldgr
     3361 alglpppvsv fpkteaewta sffnagtfre eqkctyqflm qgfickqtdq vvlildsada
     3421 iwaiqklypv vsvtsgfvdv fssvnanipc stsgsvstfy silpirqitk vcfmdqtpqv
     3481 lrffllgnks tsklllavfy helqsphvfl gesfipptlv qsaslllnes iganyfnimd
     3541 nllyvvlqge epieirsgvs ihlaltvmvs vlekgweivi lerltnflqi gqnqirfihe
     3601 mpgheetlka iadsrakrkr ncptvtctsh yrrvgqrrpl mmemnshras ppmtvetisk
     3661 vivieigdsp tvrstgmiss lssnklqnla hrvitaqqtg vlenvlnmti gallvtqskg
     3721 vigygntssf ktgnliyirp yalsilvqps dgevgnelpv qpqlvfldeq nrrveslgpp
     3781 sepwtisasl egasdsvlkg ctqaetqdgy vsfynlavli sgsnwhfift vtsppgvnft
     3841 arskpfavlp vtrkekstii laaslssvas wlalsclvcc wlkrsksrkt kpeeipesqt
     3901 nnqnihihis skrresqgpk kedtvvgedm rmkvmlgkvn qcphqlmngv srrkvsrhiv
     3961 reeeaavpap gttgitshgh icapgapaqq vylqetgnwk egqeqllryq lagqnqllll
     4021 cpdfrqerqq lpgqsrlskq sgslglsqek kascgateaf clhsvhpeti qeql
//
LOCUS       XP_047277420             883 aa            linear   PRI 20-MAR-2023
DEFINITION  t-SNARE domain-containing protein 1 isoform X9 [Homo sapiens].
ACCESSION   XP_047277420
VERSION     XP_047277420.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421464.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..883
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..883
                     /product="t-SNARE domain-containing protein 1 isoform X9"
                     /calculated_mol_wt=94052
     Region          124..201
                     /region_name="Myb_DNA-bind_5"
                     /note="Myb/SANT-like DNA-binding domain; pfam13873"
                     /db_xref="CDD:433544"
     Site            order(258,265,330..331,334,337,340,343..344,350,353,387)
                     /site_type="active"
                     /note="nSec1 interaction sites [active]"
                     /db_xref="CDD:238105"
     Region          265..365
                     /region_name="Syntaxin_2"
                     /note="Syntaxin-like protein; pfam14523"
                     /db_xref="CDD:434013"
     Site            order(285,295,298..299,306,310,313,338,343,346,352,
                     359..360,363..364,369..370,373)
                     /site_type="active"
                     /note="interdomain interaction site [active]"
                     /db_xref="CDD:238105"
     Region          416..>454
                     /region_name="SNARE"
                     /note="SNARE motif; cl22856"
                     /db_xref="CDD:451431"
     Site            450
                     /site_type="active"
                     /note="zero layer [active]"
                     /db_xref="CDD:277192"
     Region          <464..705
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..883
                     /gene="TSNARE1"
                     /coded_by="XM_047421464.1:119..2770"
                     /db_xref="GeneID:203062"
                     /db_xref="HGNC:HGNC:26437"
ORIGIN      
        1 msygsiargg glgsrgpfgg psrqgcqple carcwteygi rhfpcpspes klqnrcvgkd
       61 gegdlgpagt pivprarkrg pgvapegsrm peptssptig prkdsaagph grmagpsttr
      121 akkrkpnfcp qetevlvskv skhhqllfgt gllkaeptrr yrvwsrilqa vnalgycrrd
      181 vvdlkhkwrd lravvrrklg dlrkaahgps pgsgkpqala ltpveqvvak tfscqalpse
      241 gfslepprat qvdpcnlqel fqemsanvfr inssvtsler slqslgtpsd tqelrdslht
      301 aqqetnktia asassvkqma ellrsscper lqqerpqldr lktqlsdaiq cygvvqkkia
      361 eksrallpma qrgskqqspq apfaeladde kvfngsdnmw qgqeqallpd iteedleair
      421 lreeailqme snlldvnqii kdlasmvseq geavgealpf ccwrppikdl tgervqqqqs
      481 hlpaelqpra grgspaagcr aglhtpaagp plphqdtqaq lqppgdggag aegaaplpaa
      541 vrgaaghtcp kaprvephpa gseragllpp rpggpqaqva gparccaqea gggrprprpp
      601 phtcgahggr dlfcprsprr gpdhgapakp rlqpaaatgs kgdagsegda gsvlppaasv
      661 ppptapplll ktpcqellrr pphmvahpsk qspagpspsw elleglwers pgsrtsslra
      721 tewtegpslt gqagaglkrp qwqpwqnler wgilscscsq rcmrlgpmgr vgrtgwethv
      781 dpanpvaglg qgawavglgr wawalglvvg lggwawsvgl lmgwgwrriw vlsglcrpgm
      841 agstpieatl spegqilaak gpmgrgrpgl gvlhgkdrhv vwg
//
LOCUS       XP_047277769            1317 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM135B isoform X4 [Homo sapiens].
ACCESSION   XP_047277769
VERSION     XP_047277769.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421813.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1317
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1317
                     /product="protein FAM135B isoform X4"
                     /calculated_mol_wt=145640
     Region          111..172
                     /region_name="DUF3657"
                     /note="Protein FAM135; pfam12394"
                     /db_xref="CDD:432522"
     Region          1140..1315
                     /region_name="DUF676"
                     /note="Putative serine esterase (DUF676); pfam05057"
                     /db_xref="CDD:309968"
     CDS             1..1317
                     /gene="FAM135B"
                     /gene_synonym="C8ORFK32"
                     /coded_by="XM_047421813.1:277..4230"
                     /db_xref="GeneID:51059"
                     /db_xref="HGNC:HGNC:28029"
ORIGIN      
        1 mseiqgtvef svelhkfynv dlfqrgyyqi rvtlkvssri phrlsasiag qtessslhsa
       61 cvhdstvhsr vfqilyrnee vpindavvfr vhlllggerm edalsevdfq lkvdlhftds
      121 eqqlrdvaga pmvssrtlgl hfhprnglhh qvpvmfdyfh lsvisvtvha alvalqqpli
      181 sftrpgrgsw lgkggpdtgq eqsiislenl vfgagyckpt ssegsfyits encmqhahkw
      241 hrdlcllllh ayrglrlhfl vimrdipelp htelealave etlsqlcsel qmlnnpekia
      301 eqiskdlawl tshmmtlwtq fldtvtlhsq vttyltqehh tlrvrrfsea ffymehqkla
      361 vltfqenliq thsqlsldir nseyltsmpp lpaecldidg dwntlpvife dryvdcpatg
      421 hnlsvypnfd vpvtsptimn lkdkedncmv nsnlsfredl vlstikpsqm dsdeevircp
      481 epgenvatqn hmdmcsesqv yisigefqnk agvpedecwt gqtsdagtyp vadvdtsrrs
      541 pgpedgqapv ltyidvkssn knpsraeplv afnaqhesrs srdkygldrt glskvvvggs
      601 hqnaissdkt tlhelstlgk gidqegkmvl lslkltpsep cdplsstlre pldirsslkd
      661 shteeqeels vlsgvikrss siisdsgies epssvawsea rsralelpsd revlhpfvrr
      721 halhrnsleg ghtesntslp sgiqasltsi sslpfeeder evaltkltks vsaphisspe
      781 eaaedadtkq qdggfaepsd mhsksqgspg scsqlcgdsg tdagadhplv eivldadnqq
      841 gpgyidipkg kgkqfdaqgh clpdgrtent pgvetkglnl kiprvialen prtrslhral
      901 eetpkgmpkd lnvgqqalsn sgisevegls qhqvpelsct saadainrns tgqqsqsgsp
      961 cimddtafnr gvnafpeakh kagtvcptvt hsvhsqvlkn qelkagtsim gshltsaetf
     1021 tldslkavev vnlsvsctat clpfssvpke tparagfssk qtlfpithqp lgsfgvvsth
     1081 sstldeevse rmfsvfssfy qakekfkkel kiegflysdl tvlasdipyf ppeeeeenle
     1141 dgihlvvcvh gldgnsadlr lvktfielgl pggkldflms eknqmdtfad fdtmtdrlld
     1201 eiiqhiqlyn lsisrisfig hslgniiirs vltrprfryy lnklhtflsl sgphlgtlyn
     1261 nstlvstglw lmqklkksgs llqltfrdna dlrkcflyql sqktgqvwkf vqisrgc
//
LOCUS       XP_047278440            1047 aa            linear   PRI 20-MAR-2023
DEFINITION  suppression of tumorigenicity 18 protein isoform X1 [Homo sapiens].
ACCESSION   XP_047278440
VERSION     XP_047278440.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422484.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1047
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..1047
                     /product="suppression of tumorigenicity 18 protein isoform
                     X1"
                     /calculated_mol_wt=115024
     Region          367..393
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          411..439
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          480..715
                     /region_name="MYT1"
                     /note="Myelin transcription factor 1; pfam08474"
                     /db_xref="CDD:430017"
     Region          723..751
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          767..795
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          815..843
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          869..895
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          921..1006
                     /region_name="Com_YlbF"
                     /note="Control of competence regulator ComK, YlbF/YmcA;
                     cl42071"
                     /db_xref="CDD:455416"
     CDS             1..1047
                     /gene="ST18"
                     /gene_synonym="NZF-3; NZF3; ZC2H2C3; ZC2HC10; ZNF387"
                     /coded_by="XM_047422484.1:518..3661"
                     /db_xref="GeneID:9705"
                     /db_xref="HGNC:HGNC:18695"
                     /db_xref="MIM:617155"
ORIGIN      
        1 mdaeaedktl rtrskgtevp mdsliqelsv aydcsmakkr taedqalgvp vnkrksllmk
       61 prhyspkadc qedrsdrted dgplethghs taeeimikpm desllstaqe nssrkedrys
      121 cyqelmvksl mhlgkfeknv svqtvsenln dsgiqslkae sdeadecfli hsddgrdkid
      181 dsqppfcssd dnesnsesae ngwdsgsnfs eetkpprvpk yvltdhkkdl levpeikteg
      241 dkfipcenrc dseterkdpq nalaepldgn aqpsfpdvee edseslavmt eegsdlekak
      301 gnlslleqai alqaergcvf hntykeldrf llehlagerr qtkvidmggr qifnnkhspr
      361 pekretkcpi pgcdgtghvt glyphhrsls gcphkvrvpl eilamhenvl kcptpgctgr
      421 ghvnsnrnth rslsgcpiaa aeklamsqdk nqldspqtgq cpdqahrtsl vkqiefnfps
      481 qaitspratv skeqekfgkv pfdyasfdaq vfgkrpliqt vqgrktppfp eskhfpnpvk
      541 fpnrlpsaga htqspgrass ysygqcsedt hiaaaaailn lstrcreatd ilsnkpqslh
      601 akgaeievde ngtldlsmkk nrildksapl tssntsiptp ssspfktssi lvnaafyqal
      661 cdqegwdtpi nyskthgkte eekekdpvss lenleekkfp geasipspkp klhardlkke
      721 litcptpgcd gsghvtgnya shrsvsgcpl adktlkslma ansqelkcpt pgcdgsghvt
      781 gnyashrsls gcprarkggv kmtptkeeke dpelkcpvig cdgqghisgk ytshrtasgc
      841 plaakrqken plngaslswk lnkqelphcp lpgcnglghv nnvfvthrsl sgcplnaqvi
      901 kkgkvseelm tiklkatggi esdeeirhld eeikelnesn lkieadmmkl qtqitsmesn
      961 lktieeenkl ieqnnesllk elaglsqali ssladiqlpq mgpiseqnfe ayvntltdmy
     1021 snlerdyspe ckallesikq avkgihv
//
LOCUS       XP_047279522             320 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 6 catalytic subunit isoform X1
            [Homo sapiens].
ACCESSION   XP_047279522
VERSION     XP_047279522.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423566.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..320
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..320
                     /product="serine/threonine-protein phosphatase 6 catalytic
                     subunit isoform X1"
                     /calculated_mol_wt=36204
     Region          5..304
                     /region_name="MPP_PP2A_PP4_PP6"
                     /note="PP2A, PP4, and PP6 phosphoprotein phosphatases,
                     metallophosphatase domain; cd07415"
                     /db_xref="CDD:277360"
     Site            order(90,92,96,100,128..129,133..134,138,178,200..202,211,
                     224..226,252,254,278..280)
                     /site_type="active"
                     /db_xref="CDD:277360"
     Site            order(90,92,96,128,178,252)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:277360"
     CDS             1..320
                     /gene="PPP6C"
                     /gene_synonym="PP6; PP6C"
                     /coded_by="XM_047423566.1:86..1048"
                     /db_xref="GeneID:5537"
                     /db_xref="HGNC:HGNC:9323"
                     /db_xref="MIM:612725"
ORIGIN      
        1 mapldldkyv eiarlckylp endlkvspic glapsgcgap agrpflspgp ppvfhflrfl
       61 kerlcdyvcd llleesnvqp vstpvtvcgd ihgqgdfvdr gyysletfty llalkakwpd
      121 ritllrgnhe srqitqvygf ydecqtkygn anawryctkv fdmltvaali deqilcvhgg
      181 lspdiktldq irtiernqei phkgafcdlv wsdpedvdtw aisprgagwl fgakvtnefv
      241 hinnlklicr ahqlvhegyk fmfdeklvtv wsapnycyrc gniasimvfk dvntrepklf
      301 ravpdservi pprtttpyfl
//
LOCUS       XP_047298105             544 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase PAK 3 isoform X4 [Homo sapiens].
ACCESSION   XP_047298105
VERSION     XP_047298105.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442149.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..544
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..544
                     /product="serine/threonine-protein kinase PAK 3 isoform
                     X4"
                     /calculated_mol_wt=60562
     Region          69..126
                     /region_name="PBD"
                     /note="P21-Rho-binding domain; pfam00786"
                     /db_xref="CDD:395634"
     Site            order(70,73,76,78,81,98,102)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238526"
     Region          248..544
                     /region_name="STKc_PAK3"
                     /note="Catalytic domain of the Protein Serine/Threonine
                     Kinase, p21-activated kinase 3; cd06656"
                     /db_xref="CDD:132987"
     Site            order(274..278,282,295,297,326,342..346,348..349,352,387,
                     389..392,394,404..405,408,421..425,427,454,463..465)
                     /site_type="active"
                     /db_xref="CDD:132987"
     Site            order(274..278,282,295,297,326,342..346,348..349,352,
                     391..392,394,404..405)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:132987"
     Site            order(277..278,387,389..391,408,421..425,427,454,463..465)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:132987"
     Site            order(279,313,382,384..387,405..406,433..434,436,441,466,
                     469,472)
                     /site_type="other"
                     /note="AID interaction site [polypeptide binding]"
                     /db_xref="CDD:132987"
     Site            404..427
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:132987"
     CDS             1..544
                     /gene="PAK3"
                     /gene_synonym="ARA; beta-PAK; bPAK; MRX30; MRX47; OPHN3;
                     PAK-3; PAK3beta; XLID30"
                     /coded_by="XM_047442149.1:481..2115"
                     /db_xref="GeneID:5063"
                     /db_xref="HGNC:HGNC:8592"
                     /db_xref="MIM:300142"
ORIGIN      
        1 msdgldneek ppapplrmns nnrdssalnh sskplpmape eknkkarlrs ifpgggdktn
       61 kkkekerpei slpsdfehti hvgfdavtge ftgipeqwar llqtsnitkl eqkknpqavl
      121 dvlkfydske tvnnqkymsf tsgdksahgy iaahpsstkt asepplappv seeedeeeee
      181 eedenepppv iaprpehtks iytrsvvesi aspavpnkev tppsaenans stlyrntdrq
      241 rkkskmtdee ileklrsivs vgdpkkkytr fekigqgasg tvytaldiat gqevaikqmn
      301 lqqqpkkeli ineilvmren knpnivnyld sylvgdelwv vmeylaggsl tdvvtetcmd
      361 egqiaavcre clqaldflhs nqvihrdiks dnillgmdgs vkltdfgfca qitpeqskrs
      421 tmvgtpywma pevvtrkayg pkvdiwslgi maiemvegep pylnenplra lyliatngtp
      481 elqnperlsa vfrdflnrcl emdvdrrgsa kellqhpflk lakplssltp liiaakeaik
      541 nssr
//
LOCUS       XP_054184573             943 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing protein 37A isoform X14 [Homo
            sapiens].
ACCESSION   XP_054184573
VERSION     XP_054184573.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328598.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167251.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..943
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31-21.32"
     Protein         1..943
                     /product="leucine-rich repeat-containing protein 37A
                     isoform X14"
                     /calculated_mol_wt=103003
     CDS             1..943
                     /gene="LRRC37A"
                     /gene_synonym="LRRC37"
                     /coded_by="XM_054328598.1:4..2835"
                     /db_xref="GeneID:9884"
                     /db_xref="HGNC:HGNC:29069"
                     /db_xref="MIM:616555"
ORIGIN      
        1 mtsaqcpala cvmsplrfwg pwpllmwqll wllvkeaqpl ewvkdplqlt snplgppepw
       61 sshsshfpre sphaptlpad pwdfdhlgps assempappq estenlvpfl dtwdsagelp
      121 lepeqflasq qdlkdklspq erlpvspkkl kkdpaqrwsl aeiigiirql stpqsqkqtl
      181 qneysstdtp ypgslppelr vksdeppgps eqvgpsqfhl epetqnpetl ediqssslqq
      241 eapaqlpqll eeepssmqqe apalppessm esltlpnhev svqppgedqa yyhlpnitvk
      301 padvevtits eptnetessq aqqetpiqfp eevepsatqq eapieppvpp mehelsiseq
      361 qqpvqpsesp revessptqq etpgqppehh evtvsppghh qthhlaspsv svkppdvqlt
      421 iaaepsaevg tslvhqeatt rlsgsgndve ppaiqhggpp llpesseeag plavqqetsf
      481 qspepinnen psptqqeaaa ehpqtaeege sslthqeapa qtpefpnvvv aqppehshlt
      541 qatvqpldlg ftitpeskte velsptmket ptqppkkvvp qlrvyqgvtn ptpgqdqaqh
      601 pvspsvtvql ldlgltitpe pttevghstp pkrtivspkh pevtlphpdq vqtqhshltr
      661 atvqpldlgf titpksmtev epstalmtta pppghpevtl ppsdkgqaqh shltqatvqp
      721 ldleltittk pttevkpspt teetstqppd lglaiipept tetghstale kttaprpdrv
      781 qtlhrsltev tgpptelepa qdslvqsesy tqnkaltape ehkaststni celctcgdem
      841 lscidlnpeq rlrqvpvpep nthngtftil nfqgnyisyi dgnvwkaysw teklilnhnp
      901 lttvedpylf klpalkyldm gttlvplttl knilmmtvel ekl
//
LOCUS       XP_054189187             678 aa            linear   PRI 20-MAR-2023
DEFINITION  caspase recruitment domain-containing protein 14 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054189187
VERSION     XP_054189187.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333212.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791802) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..678
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..678
                     /product="caspase recruitment domain-containing protein 14
                     isoform X6"
                     /calculated_mol_wt=76439
     CDS             1..678
                     /gene="CARD14"
                     /gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
                     /coded_by="XM_054333212.1:367..2403"
                     /db_xref="GeneID:79092"
                     /db_xref="HGNC:HGNC:16446"
                     /db_xref="MIM:607211"
ORIGIN      
        1 mgelcrrdsa ltaldeetlw emmeshrhri vrcicpsrlt pylrqakvlc qldeeevlhs
       61 prltnsamra ghlldllktr gkngaiafle slkfhnpdvy tlvtglqpdv dfsnfsglme
      121 tsklteclag aigslqeeln qekgqkevll rrcqqlqehl glaetraegl hqleadhsrm
      181 krevsahfhe vlrlkdemls lslhysnalq ekelaasrcr slqeelyllk qelqranmvs
      241 scelelqeqs lrtasdqesg deelnrlkee neklrsltfs laekdileqs ldeargsrqe
      301 lverihslre ravaaerqre qyweekeqtl lqfqkskmac qlyrekvnal qaqvcelqke
      361 rdqaysards aqreisqslv ekdslrrqvf eltdqvcelr tqlrqlqaep pgvlkqeart
      421 repcprekqr lvrmhaicpr ddsdcslvss tesqllsdls atssrelvds frssspapps
      481 qqslykrvae dfgeepwsfs scleipegdp galpgakagd phldyelldt adlpqlessl
      541 qpvspgrldv sesgvlmrrr parrilsqvt mlafqgdall eqisviggnl tgifihrvtp
      601 gsaadqmalr pgtqivmvir gysrtwrpkw rprgthstsg stwpwragpk gscrciatrs
      661 ctsptpcsra aaagmpta
//
LOCUS       XP_054190237             993 aa            linear   PRI 20-MAR-2023
DEFINITION  axonemal dynein light chain domain-containing protein 1 isoform X2
            [Homo sapiens].
ACCESSION   XP_054190237
VERSION     XP_054190237.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334262.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..993
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..993
                     /product="axonemal dynein light chain domain-containing
                     protein 1 isoform X2"
                     /calculated_mol_wt=116055
     CDS             1..993
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /coded_by="XM_054334262.1:244..3225"
                     /db_xref="GeneID:126859"
                     /db_xref="HGNC:HGNC:26564"
ORIGIN      
        1 mttnrrsskg grlpelkekk nmvdrskllp tslqnefipk evllsltyaa nagpcpenll
       61 ppkkiktpkg tlprlvdhvw hhpvrrnkfk ylidhpvslt gagrdisfly dvtyakgqtr
      121 ekavcpphla rslqshdgvi vphkpktltd tlipeefhiv sstgvsglec yddkyttllt
      181 dsenrlllfp smkpnkrvev aqlndvmdtm leragvenqe ytgptkmhkl lhilkkeqti
      241 ynmifhelir qvsvdcadrg ellskvrery vqmldqiarq midfykdlvt qrvmdqrile
      301 elynfkhvie eltrelclvr ahdvkltket ekahkdlaqa llnaeknaki veeyhdlytl
      361 qrermendmk klvaerdiws satyelalkv iernrvilar rlylnekgwn kytkhfiill
      421 snkdtedlal lqkltqkwrn lvnklkqeve qmeestsetl kivkdglikw qeffnekdil
      481 spnkgnifns vlldfkqwqk llnekkeeft gdvllskydt lkiikhlqen wadiglgifn
      541 rhkslegemp serqymeeii kniqklykey eiringdngy skilpsliss ldfcsfklen
      601 lefpdtplee wqeidekine mkshldilln ltgivpqhid vdsvsvlqay ifnmiqqwll
      661 kigneinngn ielqhhmdel hismiqwmvn llilmipnft dqdcllklee esaekhdigv
      721 arleldaiel trklyqyssy lsscckgmvt amalskstns hknatedlye vdklkkecye
      781 wintcsclls nikgrkitll tyeeierlle eeavkefiep eidesfkede eeskedrklq
      841 eenkeraeeq pststekekl irfigedenv hskplfetdv lsswkkresa kqgtlaqkyl
      901 eamaviehmq ekllevenra rqaeekfeda yeklhhtlik nkdleelvmt srkeskeeke
      961 nqderevkee eeqqeeeevr saensskspk kgh
//
LOCUS       XP_054191344             683 aa            linear   PRI 20-MAR-2023
DEFINITION  ral guanine nucleotide dissociation stimulator-like 1 isoform X3
            [Homo sapiens].
ACCESSION   XP_054191344
VERSION     XP_054191344.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335369.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..683
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..683
                     /product="ral guanine nucleotide dissociation
                     stimulator-like 1 isoform X3"
                     /calculated_mol_wt=77424
     CDS             1..683
                     /gene="RGL1"
                     /gene_synonym="RGL"
                     /coded_by="XM_054335369.1:179..2230"
                     /db_xref="GeneID:23179"
                     /db_xref="HGNC:HGNC:30281"
                     /db_xref="MIM:605667"
ORIGIN      
        1 mkllwqakms siqdwgeeve egavyhvtlk rvqiqqaank garwlgvegd qlppghtvsq
       61 yetckirtik agtleklven lltafgdndf tyisiflsty rgfastkevl ellldrygnl
      121 tspnceedgs qssseskmvi rnaiasilra wldqcaedfr epphfpclqk lldyltrmmp
      181 gsdperraqn lleqfqkqev etdnglpnti sfsleeeeel eggesaeftc fsedlvaeql
      241 tymdaqlfkk vvphhclgci wsrrdkkenk hlaptirati sqfntltkcv vstilggkel
      301 ktqqrakiie kwiniahecr llknfsslra ivsalqsnsi yrlkktwaav prdrmlmfee
      361 lsdifsdhnn hltsrellmk egtskfanld ssvkenqkrt qrrlqlqkdm gvmqgtvpyl
      421 gtfltdltml dtalqdyieg glinfekrrr efeviaqikl lqsacnsycm tpdqkfiqwf
      481 qrqqllteee syalsceiea aadasttspk prksmvkrls llflgsdmit sptptkeqpk
      541 stasgssges mdsvsvssce snhseaeegs itpmdtpdep qkkltsqdkt paviqramlk
      601 hnldsdpaee yelvqvised kelvipdsan vfyamnsqvn fdfilrkkns meeqvklrsr
      661 tsltlprtak rgcwsnrhsk itl
//
LOCUS       XP_054191853            1125 aa            linear   PRI 20-MAR-2023
DEFINITION  membrane-associated guanylate kinase, WW and PDZ domain-containing
            protein 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054191853
VERSION     XP_054191853.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335878.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1125
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1125
                     /product="membrane-associated guanylate kinase, WW and PDZ
                     domain-containing protein 3 isoform X2"
                     /calculated_mol_wt=123209
     CDS             1..1125
                     /gene="MAGI3"
                     /gene_synonym="dJ730K3.2; MAGI-3"
                     /coded_by="XM_054335878.1:520..3897"
                     /db_xref="GeneID:260425"
                     /db_xref="HGNC:HGNC:29647"
                     /db_xref="MIM:615943"
ORIGIN      
        1 msktlkkkkh wlskvqecav swagppgdfg aeirggaerg efpylgrlre epgggtccvv
       61 sgkapspgdv llevngtpvs gltnrdtlav irhfrepirl ktvkpgkvin kdlrhylslq
      121 fqkgsidhkl qqvirdnlyl rtipcttrap rdgevpgvdy nfisveqfka leesgalles
      181 gtydgnfygt pkppaepspf qpdpvdqvlf dnefdaesqr krttsvskme rmdsslpeee
      241 ededkeaing sgnaenrerh sessdwmktv psynqtnssm dfrnymmrde tleplpknwe
      301 maytdtgmiy fidhntkttt wldprlckka kapedcedge lpygwekied pqygtyyvdh
      361 lnqktqfenp veeakrkkql gqveigsskp dmekshftrd psqlkgvlvr aslkkstmgf
      421 gftiiggdrp deflqvknvl kdgpaaqdgk iapgdvivdi ngncvlghth advvqmfqlv
      481 pvnqyvnltl crgyplpdds edpvvdivaa tpvingqslt kgetcmnpqd fkpgamvleq
      541 ngksghtltg dglngpsdas eqrvsmassg ssqpelvtip likgpkgfgf aiadsptgqk
      601 vkmildsqwc qglqkgdiik eiyhqnvqnl thlqvvevlk qfpvgadvpl lilrggppsp
      661 tktakmktdk kenagsleai nepipqpmpf ppsiirsgsp kldpsevylk sktlyedkpp
      721 ntkdldvflr kqesgfgfrv lggdgpdqsi yigaiiplga aekdgrlraa delmcidgip
      781 vkgkshkqvl dlmttaarng hvlltvrrki fygekqpedd ssqafistqn gsprlnraev
      841 parpapqepy dvvlqrkene gfgfviltsk nkpppgviph kigrviegsp adrcgklkvg
      901 dhisavngqs ivelshdniv qlikdagvtv tltviaeeeh hgppsgtnsa rqspalqhrp
      961 mgqsqanhip gdrsalegei gkdvstsyrh swsdhkhlaq pdtavisvvg srhnqnlgcy
     1021 pvelergprg fgfslrggke ynmglfilrl aedgpaikdg rihvgdqive ingeptqgit
     1081 htraieliqa ggnkvllllr pgtglipdhg lapsglcsyv kpeqh
//
LOCUS       XP_054192437             655 aa            linear   PRI 20-MAR-2023
DEFINITION  potassium voltage-gated channel subfamily D member 3 isoform X1
            [Homo sapiens].
ACCESSION   XP_054192437
VERSION     XP_054192437.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336462.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..655
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..655
                     /product="potassium voltage-gated channel subfamily D
                     member 3 isoform X1"
                     /calculated_mol_wt=73321
     CDS             1..655
                     /gene="KCND3"
                     /gene_synonym="BRGDA9; KCND3L; KCND3S; KSHIVB; KV4.3;
                     SCA19; SCA22"
                     /coded_by="XM_054336462.1:393..2360"
                     /db_xref="GeneID:3752"
                     /db_xref="HGNC:HGNC:6239"
                     /db_xref="MIM:605411"
ORIGIN      
        1 maagvaawlp faraaaigwm pvancpmpla padknkrqde livlnvsgrr fqtwrttler
       61 ypdtllgste kefffnedtk eyffdrdpev frcvlnfyrt gklhypryec isayddelaf
      121 ygilpeiigd ccyeeykdrk renaerlmdd ndsennqesm pslsfrqtmw rafenphtst
      181 lalvfyyvtg ffiavsvitn vvetvpcgtv pgskelpcge rysvaffcld tacvmiftve
      241 yllrlfaaps ryrfirsvms iidvvaimpy yiglvmtnne dvsgafvtlr vfrvfrifkf
      301 srhsqglril gytlkscase lgfllfsltm aiiifatvmf yaekgssask ftsipasfwy
      361 tivtmttlgy gdmvpktiag kifgsicsls gvlvialpvp vivsnfsriy hqnqradkrr
      421 aqkkarlari rvaktgssna ylhskrngll nealeltgtp eeehmgktts liesqhhhll
      481 hclekttgls ylvddpllsv rtstiknhef ideqmfeqnc messmqnyps trspslsshp
      541 gltttccsrr skktthlpns nlpatrlrsm qelstihiqg seqpslttsr sslnlkaddg
      601 lrpncktsqi ttaiisiptp paltpegesr pppaspgpnt nipsiasnvv kvsal
//
LOCUS       XP_054194374             501 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 2, facilitated glucose transporter member 5
            isoform X1 [Homo sapiens].
ACCESSION   XP_054194374
VERSION     XP_054194374.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338399.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..501
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..501
                     /product="solute carrier family 2, facilitated glucose
                     transporter member 5 isoform X1"
                     /calculated_mol_wt=54843
     CDS             1..501
                     /gene="SLC2A5"
                     /gene_synonym="GLUT-5; GLUT5"
                     /coded_by="XM_054338399.1:308..1813"
                     /db_xref="GeneID:6518"
                     /db_xref="HGNC:HGNC:11010"
                     /db_xref="MIM:138230"
ORIGIN      
        1 meqqdqsmke grltlvlala tliaafgssf qygynvaavn spallmqqfy netyygrtge
       61 fmedfpltll wsvtvsmfpf ggfigsllvg plvnkfgrkg allfnnifsi vpailmgcsr
      121 vatsfeliii srllvgicag vssnvvpmyl gelapknlrg algvvpqlfi tvgilvaqif
      181 glrnllanvd gwpillgltg vpaalqllll pffpespryl liqkkdeaaa kkalqtlrgw
      241 dsvdrevaei rqedeaekaa gfisvlklfr mrslrwqlls iivlmggqql sgvnaiyyya
      301 dqiylsagvp eehvqyvtag tgavnvvmtf cavfvvellg rrlllllgfs icliaccvlt
      361 aalalqdtvs wmpyisivcv isyvighalg pspipallit eiflqssrps afmvggsvhw
      421 lsnftvglif pfiqeglgpy sfivfavicl lttiyifliv petkaktfie inqiftkmnk
      481 vsevypekee lkelppvtse q
//
LOCUS       XP_054195088             982 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 48 isoform X1 [Homo sapiens].
ACCESSION   XP_054195088
VERSION     XP_054195088.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339113.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..982
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..982
                     /product="ubiquitin carboxyl-terminal hydrolase 48 isoform
                     X1"
                     /calculated_mol_wt=112758
     CDS             1..982
                     /gene="USP48"
                     /gene_synonym="DFNA85; RAP1GA1; USP31"
                     /coded_by="XM_054339113.1:193..3141"
                     /db_xref="GeneID:84196"
                     /db_xref="HGNC:HGNC:18533"
                     /db_xref="MIM:617445"
ORIGIN      
        1 maprlqleka awrwaetvrp eevsqehiet ayriwlepci rgvcrrnckg npnclvgige
       61 hiwlgeiden sfhniddpnc errkknsfvg ltnlgatcyv ntflqvwfln lelrqalylc
      121 pstcsdymlg dgiqeekdye pqticehlqy lfallqnsnr ryidpsgfvk algldtgqqq
      181 daqefsklfm slledtlskq knpdvrnivq qqfcgeyayv tvcnqcgres kllskfyele
      241 lniqghkqlt dciseflkee klegdnryfc encqskqnat rkirllslpc tlnlqlmrfv
      301 fdrqtghkkk lntyigfsei ldmepyvehk ggsyvyelsa vlihrgvsay sghyiahvkd
      361 pqsgewykfn dediekmegk klqlgieedl epsksqtrkp kcgkgthcsr naymlvyrlq
      421 tqekpnttvq vpaflqelvd rdnskfeewc iemaemrkqs vdkgkakhee vkelyqrlpa
      481 gaepyefvsl ewlqkwldes tptkpidnha clcshdklhp dkisimkris eyaadifysr
      541 ygggprltvk alckecvver crilrlknql nedyktvnnl lkaavkgsdg fwvgksslrs
      601 wrqlaleqld eqdgdaeqsn gkmngstlnk deskeerkee eelnfnedil cphgelcise
      661 nerrlvskea wsklqqyfpk apefpsykec csqckilere geenealhkm ianeqktslp
      721 nlfqdknrpc lsnwpedtdv lyivsqffve ewrkfvrkpt rcspvssvgn sallcphggl
      781 mftfasmtke dsklialiwp sewqmiqklf vvdhvikitr ievgdvnpse tqyisepklc
      841 pecregllcq qqrdlreytq atiyvhkvvd nkkvmkdsap elnvsssete edkeeakpdg
      901 ekdpdfnqim hafsvapfdq nlsidgkils ddcatlgtlg vipesvillk adepiadyaa
      961 mddvmqvcmp eegfkgtgll gh
//
LOCUS       XP_054222999             303 aa            linear   PRI 20-MAR-2023
DEFINITION  outer mitochondrial transmembrane helix translocase isoform X2
            [Homo sapiens].
ACCESSION   XP_054222999
VERSION     XP_054222999.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367024.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..303
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..303
                     /product="outer mitochondrial transmembrane helix
                     translocase isoform X2"
                     /calculated_mol_wt=33951
     CDS             1..303
                     /gene="ATAD1"
                     /gene_synonym="AFDC1; FNP001; hATAD1; HKPX4; Msp1;
                     THORASE"
                     /coded_by="XM_054367024.1:18..929"
                     /db_xref="GeneID:84896"
                     /db_xref="HGNC:HGNC:25903"
                     /db_xref="MIM:614452"
ORIGIN      
        1 mkqigvknvk lseyemsiaa hlvdplnmhv twsdiagldd vitdlkdtvi lpikkkhlfe
       61 nsrllqppkg vllygppgcg ktliakatak eagcrfinlq pstltdkwyg esqklaaavf
      121 slaiklqpsi ifideidsfl rnrsssdhea tammkaqfms lwdgldtdhs cqvivmgatn
      181 rpqdldsaim rrmptrfhin qpalkqreai lklilknenv drhvdlleva qetdgfsgsd
      241 lkemcrdaal lcvreyvnst seeshdedei rpvqqqdlhr aiekmkkskd aafqnvlthv
      301 cld
//
LOCUS       XP_054225151             293 aa            linear   PRI 20-MAR-2023
DEFINITION  protein BTG4 isoform X1 [Homo sapiens].
ACCESSION   XP_054225151
VERSION     XP_054225151.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369176.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..293
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..293
                     /product="protein BTG4 isoform X1"
                     /calculated_mol_wt=34108
     CDS             1..293
                     /gene="BTG4"
                     /gene_synonym="APRO3; OOMD8; PC3B"
                     /coded_by="XM_054369176.1:430..1311"
                     /db_xref="GeneID:54766"
                     /db_xref="HGNC:HGNC:13862"
                     /db_xref="MIM:605673"
ORIGIN      
        1 mrdeiattvf fvtrlvkkhd klskqqiedf aeklmtilfe tyrshwhsdc pskgqafrci
       61 rinnnqnkdp ileracvesn vdfshlglpk emtiwvdpfe vccrygeknh pftvasfkgr
      121 weewelyqqi syavsrassd vssgtscdee scskeprvip kvsnpksiyq venlkqpfqs
      181 wlqiprkknv vdgrvgllgn tyhgsqkhpk cyrpamhrld retiprkrtf ftqqllpysl
      241 rcvfvfsyvf lhqrcpkawn rtwhnymmle csgtitahld llgssnppts tfk
//
LOCUS       XP_054226059            1835 aa            linear   PRI 20-MAR-2023
DEFINITION  myotubularin-related protein 13 isoform X8 [Homo sapiens].
ACCESSION   XP_054226059
VERSION     XP_054226059.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370084.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1835
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1835
                     /product="myotubularin-related protein 13 isoform X8"
                     /calculated_mol_wt=206599
     CDS             1..1835
                     /gene="SBF2"
                     /gene_synonym="CMT4B2; DENND7B; MTMR13"
                     /coded_by="XM_054370084.1:5002..10509"
                     /db_xref="GeneID:81846"
                     /db_xref="HGNC:HGNC:2135"
                     /db_xref="MIM:607697"
ORIGIN      
        1 mfcqpggwql srerkqptff vvvltdidsd rhycscltfy eaeinlqgtk keeiegeakv
       61 sgliqpaevf apkslvlvsr lyypeifrac lgliytvyvd slnvslesli anlcaclvpa
      121 aggsqklfsl gagdrqliqt plhdslpitg tsvallfqql giqnvlslfc avltenkvlf
      181 hsasfqrlsd acraleslmf plkysypyip ilpaqllevl ssptpfiigv hsvfktdvhe
      241 lldviiadld ggtikipeci hlsslpepll hqtqsalsli lhpdlevadh afppprtals
      301 hskmldkevr avflrlfaql fqgyrsclql irihaepvih fhktaflgqr glvendfltk
      361 vlsgmafagf vsergppyrs cdlfdelvaf everikveen npvkmikhvr elaeqlfkne
      421 npnphmafqk vprptegshl rvhilpfpei nearvqeliq envaknqnap patriekkcv
      481 vpagppvvsi mdkvttvfns aqrlevvrnc isfifenkil etektlpaal ralkgkaarq
      541 cltdelglhv qqnraildhq qfdyiirmmn ctlqdcssle eyniaaallp ltsafyrkla
      601 pgvsqfaytc vqdhpiwtnq qfwettfyna vqeqvrslyl sakednhaph lkqkdklpdd
      661 hyqektamdl aaeqlrlwpt lskstqqelv qheestvfsq aihfanlmvn llvpldtskn
      721 kllrtsapgd wesgsnsivt nsiagsvaes ydtesgfeds entdiansvv rfitrfidkv
      781 ctesgvtqdh ikslhcmipg ivamhietle avhresrrlp piqkpkilrp allpgeeivc
      841 eglrvlldpd greeatggll ggpqllpaeg alflttyril frgtphdqlv geqtvvrsfp
      901 iasitkekki tmqnqlqqnm qeglqitsas fqlikvafde evspevveif kkqlmkfryp
      961 qsifstfafa agqttpqiil pkqkekntsf rtfsktivkg akragkmtig rqyllkkktg
     1021 tiveervnrp gwnedddvsv sdeselptst tlkasekstm eqlvekacfr dyqrlglgti
     1081 sgsssrsrpe yfritasnrm yslcrsypgl lvvpqavqds slprvarcyr hnrlpvvcwk
     1141 nsrsgtlllr sggfhgkgvv glfksqnspq aaptssless ssieqekylq allnavsvhq
     1201 klrgnstltv rpafalspgt errtsrmstv lkqvvpghld vnpsnsfaqg gvwaslrsst
     1261 rlissptsfi dvgarlagkd hsasfsnssy lqnqllkrqa alyifgeksq lrnfkvefal
     1321 ncefvpvefh eirqvkasfk klmracipst iptdsevtfl kalgdsewfp qlhrimqlav
     1381 vvsevlengs svlvcleegw ditaqvtslv qllsdpfyrt legfqmlvek ewlsfghkfs
     1441 qrssltlncq gsgfapvflq fldcvhqvhn qyptefefnl yylkflafhy vsnrfktfll
     1501 dsdyerlehg tlfddkgekh akkgvciwec idrmhkrspi ffnylysple iealkpnvnv
     1561 sslkkwdyyi eetlstgpsy dwmmltpkhf psedsdlage agprsqrrtv wpcyddvsct
     1621 qpdaltslfs eieklehkln qapekwqqlw ervtvdlkee prtdrsqrhl srspgivstn
     1681 lpsyqkrsll hlpdssmgee qnssispsng verraatlys qytskndenr sfegtlykrg
     1741 allkgwkprw fvldvtkhql ryydsgedts ckghidlaev emvipagpsm gapkhtsdka
     1801 ffdlktskrv ynfcaqdgqs aqqwmdkiqs cisda
//
LOCUS       XP_054226929             654 aa            linear   PRI 20-MAR-2023
DEFINITION  la-related protein 4 isoform X9 [Homo sapiens].
ACCESSION   XP_054226929
VERSION     XP_054226929.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370954.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..654
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..654
                     /product="la-related protein 4 isoform X9"
                     /calculated_mol_wt=73018
     CDS             1..654
                     /gene="LARP4"
                     /gene_synonym="PP13296"
                     /coded_by="XM_054370954.1:315..2279"
                     /db_xref="GeneID:113251"
                     /db_xref="HGNC:HGNC:24320"
                     /db_xref="MIM:618657"
ORIGIN      
        1 myssscettr nttgieestd gmilgpedls yqiydvsges nsavstedlk eclkkqlefc
       61 fsrenlskdl ylisqmdsdq fipiwtvanm eeikklttdp dlilevlrss pmvqvdekge
      121 kvrpshkrci vilreipett pieevkglfk sencpkvisc efahnsnwyi tfqsdtdaqq
      181 afkylreevk tfqgkpimar ikaintffak ngyrlmdssi yshpiqtqaq yaspvfmqpv
      241 ynphqqysvy sivpqswspn ptpyfetpla pfpngsfvng fnspgsyktn aaamnmgrpf
      301 qknrvkpqfr ssggsehste gsvslgdgql nryssrnfpa erhnptvtgh qeqtylqket
      361 stlqveqngd ygrgrrtlfr grrrreddri srphpstaes kaptpkfdll asnfpplpgs
      421 ssrmpgelvl enrmsdvvkg vykekdneel tiscpvpade qtectsaqql nmstsspcaa
      481 eltalsttqq ekdliedssv qkdglnqtti pvsppsttkp srastaspcn nninaatava
      541 lqeprklsya evcqkppkep ssvlvqplre lrsnvvsptk nedngapens vekphekpea
      601 raskdysgfr gniiprgaag kireqrrqfs hraipqgvtr rngkeqyvpp rspk
//
LOCUS       XP_054227156             246 aa            linear   PRI 20-MAR-2023
DEFINITION  tetraspanin-19 isoform X2 [Homo sapiens].
ACCESSION   XP_054227156
VERSION     XP_054227156.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371181.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..246
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..246
                     /product="tetraspanin-19 isoform X2"
                     /calculated_mol_wt=28088
     CDS             1..246
                     /gene="TSPAN19"
                     /coded_by="XM_054371181.1:102..842"
                     /db_xref="GeneID:144448"
                     /db_xref="HGNC:HGNC:31886"
ORIGIN      
        1 mlrnnktiii kyflnlinga flvlgllfmg fgawllldrn nfltafdenn hfivpisqil
       61 igmgsstvlf cllgyigihn eirwllivya vlitwtfavq vvlsafiitk keevqqlwhd
      121 kidfviseyg skdkpeditk wtilnalqkt ccgqhnytdw iknknkensg qvpcsctkst
      181 lrkwfcdepl natylegcen kisawynvnv ltliginfgl ltsevfqvsl tvcffknikn
      241 iihaem
//
LOCUS       XP_054227217             517 aa            linear   PRI 20-MAR-2023
DEFINITION  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X4
            [Homo sapiens].
ACCESSION   XP_054227217
VERSION     XP_054227217.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371242.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..517
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..517
                     /product="mitochondrial 10-formyltetrahydrofolate
                     dehydrogenase isoform X4"
                     /calculated_mol_wt=57201
     CDS             1..517
                     /gene="ALDH1L2"
                     /gene_synonym="mtFDH"
                     /coded_by="XM_054371242.1:23..1576"
                     /db_xref="GeneID:160428"
                     /db_xref="HGNC:HGNC:26777"
                     /db_xref="MIM:613584"
ORIGIN      
        1 mlrrgsqalr rfstgrvyfk nklklaligq slfgqevysh lrkeghrvvg vftvpdkdgk
       61 adplalaaek dgtpvfklpk wrvkgktike vaeayrsvga elnvlpfctq fipmdiidsp
      121 khgsiiyhps ilprhrgasa inwtlimgdk kagfsvfwad dgldtgpill qrscdvepnd
      181 tvdalynrfl fpegikamve avqliadgka pripqpeega tyegiqkken aeiswdqsae
      241 vlhnwirghd kvpgawtein gqmvtfygst llnssvppge pleikgakkp glvtknglvl
      301 fgndgkaltv rnlqfedgkm ipasqyfstg etsvveltae evkvaetikv iwagilsnvp
      361 iiedstdffk sgassmdvar lveeirqkcg glqlqnedvy matkfegfiq kvvrklrged
      421 qevelvvdyi skevneimvk mpyqcfingq ftdaddgkty dtinptdgst ickvsyasla
      481 dvdkavaaak dafengewgr mnarergrlm yssmrmn
//
LOCUS       XP_054227231             266 aa            linear   PRI 20-MAR-2023
DEFINITION  lamin tail domain-containing protein 1 isoform X5 [Homo sapiens].
ACCESSION   XP_054227231
VERSION     XP_054227231.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371256.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 12% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..266
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..266
                     /product="lamin tail domain-containing protein 1 isoform
                     X5"
                     /calculated_mol_wt=30249
     CDS             1..266
                     /gene="LMNTD1"
                     /gene_synonym="IFLTD1; LMNARS1; PAS1C1"
                     /coded_by="XM_054371256.1:260..1060"
                     /db_xref="GeneID:160492"
                     /db_xref="HGNC:HGNC:26683"
                     /db_xref="MIM:617254"
ORIGIN      
        1 msfldfgtvd kklwrtiyrd sslgdveiae vnvkglfvkl inssldkema igdhilqqnv
       61 ngqtislyrf lpnivmqans tvtvwaaase akhqppsdfl wkeqdkfras pdcitilckp
      121 ngqaiawytp ihwkqawekl dadvefnrcs vvsptfrkrv fqwtastati tkekqdqpkk
      181 disnyqveqa qvllkrekei pptvfpnrsp wcqnpyvsah pycpliephn tstaggrldr
      241 qprsrstrpn rasgskkkkt sesqkq
//
LOCUS       XP_054227375             167 aa            linear   PRI 20-MAR-2023
DEFINITION  syntaxin-2 isoform X9 [Homo sapiens].
ACCESSION   XP_054227375
VERSION     XP_054227375.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371400.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..167
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..167
                     /product="syntaxin-2 isoform X9"
                     /calculated_mol_wt=19263
     CDS             1..167
                     /gene="STX2"
                     /gene_synonym="EPIM; EPM; STX2A; STX2B; STX2C"
                     /coded_by="XM_054371400.1:152..655"
                     /db_xref="GeneID:2054"
                     /db_xref="HGNC:HGNC:3403"
                     /db_xref="MIM:132350"
ORIGIN      
        1 mrdrlpdlta crknddgdtv vvvekdhfmd dffhqveeir nsidkitqyv eevkknhsii
       61 lsapnpegki keeledlnke ikktankira klkaieqsfd qdesgnrtsv dlrirrtqhs
      121 vlsrkfveam aeyneaqtlf rerskgriqr qleisfqgrt caagpvf
//
LOCUS       XP_054227863             637 aa            linear   PRI 20-MAR-2023
DEFINITION  sentrin-specific protease 1 isoform X8 [Homo sapiens].
ACCESSION   XP_054227863
VERSION     XP_054227863.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371888.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 28% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..637
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..637
                     /product="sentrin-specific protease 1 isoform X8"
                     /calculated_mol_wt=72533
     CDS             1..637
                     /gene="SENP1"
                     /gene_synonym="SuPr-2"
                     /coded_by="XM_054371888.1:672..2585"
                     /db_xref="GeneID:29843"
                     /db_xref="HGNC:HGNC:17927"
                     /db_xref="MIM:612157"
ORIGIN      
        1 mrmdagevtl vnhnsvfkth llpqtgfped qlslsdqqil ssrqghldrs ftcstrsaay
       61 npsyysdnps sdsflgsgdl rtfgqsangq wrnstpssss slqksrnsrs lyletrktss
      121 glsnsfagks nhhchvsaye ksfpikpvps pswsgscrrs llspkktqrr hvstaeetvq
      181 eeereiyrql lqmvtgkqft iakptthfpl hlsrclsssk ntlkdslfkn gnscasqiig
      241 sdtsssgsas iltnqeqlsh svyslssytp dvafgskdsg tlhhphhhhs vphqpdnlaa
      301 sntqsegsds villkvkdsq tptpsstffq aelwikelts vydsrarerl rqieeqkala
      361 lqlqnqrlqe rehsvhdsve lhlrvpleke ipvtvvqetq kkghkltdse defpeiteem
      421 ekeiknvfrn gnqdevlsea frltitrkdi qtlnhlnwln deiinfymnm lmerskekgl
      481 psvhafntff ftklktagyq avkrwtkkvd vfsvdillvp ihlgvhwcla vvdfrkknit
      541 yydsmgginn eacrillqyl kqesidkkrk efdtngwqlf skksqeipqq mngsdcgmfa
      601 ckyadcitkd rpinftqqhm pyfrkrmvwe ilhrkll
//
LOCUS       XP_054230754             313 aa            linear   PRI 20-MAR-2023
DEFINITION  replication factor C subunit 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054230754
VERSION     XP_054230754.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374779.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..313
                     /product="replication factor C subunit 3 isoform X2"
                     /calculated_mol_wt=35508
     CDS             1..313
                     /gene="RFC3"
                     /gene_synonym="RFC38"
                     /coded_by="XM_054374779.1:31..972"
                     /db_xref="GeneID:5983"
                     /db_xref="HGNC:HGNC:9971"
                     /db_xref="MIM:600405"
ORIGIN      
        1 mslwvdkyrp cslgrldyhk eqaaqlrnlv qcgdfphllv ygpsgagkkt rimcilrely
       61 gvgveklrie hqtittpskk kieistiasn yhlevnpsda gnsdrvviqe mlktvaqsqq
      121 letnsqrdfk vvlltevdkl tkdaqhalrr tmekymstcr lilccnstsk vippirsrcl
      181 avrvpapsie dichvlstvc kkeglnlpsq lahrlaeksc rnlrkallmc eacrvqqypf
      241 tadqeipetd wevylretan aivsqqtpqr llevrgrlye llthcippei imklkdetgl
      301 smitqsfidp thh
//
LOCUS       XP_054231220             232 aa            linear   PRI 20-MAR-2023
DEFINITION  RING finger protein 212B isoform X3 [Homo sapiens].
ACCESSION   XP_054231220
VERSION     XP_054231220.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375245.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..232
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..232
                     /product="RING finger protein 212B isoform X3"
                     /calculated_mol_wt=26122
     CDS             1..232
                     /gene="RNF212B"
                     /gene_synonym="C14orf164"
                     /coded_by="XM_054375245.1:234..932"
                     /db_xref="GeneID:100507650"
                     /db_xref="HGNC:HGNC:20438"
ORIGIN      
        1 mdwfhcnqcf rkdgahffvt scghifckkc vtlekcavcg tackhlalsd nlkpqekmff
       61 kspvetalqy fshisqvwsf qkkqtdllia fykhritkle tamqeaqqal vsqdkelsvl
      121 rkengelkkf lailkespsr yqgsrsitpr pvgitspsqs vtprpsfqhs sqvvsrsssa
      181 esipyreagf gslgqggrgl qgrrtprdsy ndslptteay gitqwersmd hf
//
LOCUS       XP_054231544            1402 aa            linear   PRI 20-MAR-2023
DEFINITION  nidogen-2 isoform X1 [Homo sapiens].
ACCESSION   XP_054231544
VERSION     XP_054231544.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375569.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1402
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1402
                     /product="nidogen-2 isoform X1"
                     /calculated_mol_wt=154305
     CDS             1..1402
                     /gene="NID2"
                     /gene_synonym="NID-2"
                     /coded_by="XM_054375569.1:66..4274"
                     /db_xref="GeneID:22795"
                     /db_xref="HGNC:HGNC:13389"
                     /db_xref="MIM:605399"
ORIGIN      
        1 megdrvagrp vlsslpvlll lqllmlraaa lhpdelfphg eswgdqllqe gddessavvk
       61 lanplhfyea rfsnlyvgtn giistqdfpr etqyvdydfp tdfpaiapfl adidtshgrg
      121 rvlyredtsp avlglaaryv ragfprsarf tpthaflatw eqvgayeevk rgalpsgeln
      181 tfqavlasdg sdsyalflyp anglqflgtr pkesynvqlq lparvgfcrg eaddlksegp
      241 yfsltsteqs vknlyqlsnl gipgvwafhi gstspldnvr paavgdlsaa hssvplgrsf
      301 shatalesdy nednldyydv neeeaeylpg epeealnghs sidvsfqskv dtkplegris
      361 ppdsdlsspl hptptywpfy petesstldp htkegtslge vggpdlkgqv epwderetrs
      421 pappevdrds lapswetppp ypengsiqpy pdggpvpsem dvppahpeee ivlrsypasd
      481 httplsrgty evglednigs ntevftynaa nketcehnhr qcsrhafctd yatgfcchcq
      541 skfygngkhc lpegaphrvn gkvsghlhvg htpvhftdvd lhayivgndg raytaiship
      601 qpaaqallpl tpigglfgwl falekpgsen gfslagaaft hdmevtfypg eetvritqta
      661 egldpenyls iktniqgqvp yvpanftahi spykelyhys dstvtstssr dysltfgain
      721 qtwsyrihqn ityqvcrhap rhpsfpttqq lnvdrvfaly ndeervlrfa vtnqigpvke
      781 dsdptpvnpc ydgshmcdtt archpgtgvd ytcecasgyq gdgrncvden ecatgfhrcg
      841 pnsvcinlpg syrcecrsgy efaddrhtci litppanpce dgshtcapag qarcvhhggs
      901 tfscaclpgy agdghqctdv decsenrchp aatcyntpgs fscrcqpgyy gdgfqcipds
      961 tssltpceqq qrhaqaqyay pgarfhipqc deqgnflplq chgstgfcwc vdpdghevpg
     1021 tqtppgstpp hcgpspeptq rppticerwr enllehyggt prddqyvpqc ddlghfiplq
     1081 chgksdfcwc vdkdgrevqg trsqpgttpa ciptvappmv rptprpdvtp psvgtfllyt
     1141 qgqqigylpl ngtrlqkdaa ktllslhgsi ivgidydcre rmvywtdvag rtisraglel
     1201 gaepetivns glispeglai dhirrtmywt dsvldkiesa lldgserkvl fytdlvnpra
     1261 iavdpirgnl ywtdwnreap kietssldge nrrilintdi glpngltfdp fskllcwada
     1321 gtkklectlp dgtgrrviqn nlkypfsivs yadhfyhtdw rrdgvvsvnk hsgqftdeyl
     1381 peqrshlygi tavypycptg rk
//
LOCUS       XP_054233218             424 aa            linear   PRI 20-MAR-2023
DEFINITION  neuronal acetylcholine receptor subunit beta-4 isoform X6 [Homo
            sapiens].
ACCESSION   XP_054233218
VERSION     XP_054233218.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377243.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..424
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..424
                     /product="neuronal acetylcholine receptor subunit beta-4
                     isoform X6"
                     /calculated_mol_wt=47921
     CDS             1..424
                     /gene="CHRNB4"
                     /coded_by="XM_054377243.1:504..1778"
                     /db_xref="GeneID:1143"
                     /db_xref="HGNC:HGNC:1964"
                     /db_xref="MIM:118509"
ORIGIN      
        1 mttnvwlkqe wtdyrltwns sryegvnilr ipakriwlpd ivlynnadgt yevsvytnli
       61 vrsngsvlwl ppaiyksack ievkyfpfdq qnctlkfrsw tydhteidmv lmtptasmdd
      121 ftpsgewdiv alpgrrtvnp qdpsyvdvty dfiikrkplf ytinliipcv lttllailvf
      181 ylpsdcgekm tlcisvllal tffllliski vpptsldvpl igkylmftmv lvtfsivtsv
      241 cvlnvhhrsp sthtmapwvk rcflhklptf lfmkrpgpds sparafppsk scvtkpeata
      301 tstspsnfyg nsmyfvnpas aaskspagst pvaiprdfwl rssgrfrqdv qealegvsfi
      361 aqhmkndded qsvvedwkyv amvvdrlflw vfmfvcvlgt vglflpplfq thaasegpya
      421 aqrd
//
LOCUS       XP_054234850            1111 aa            linear   PRI 20-MAR-2023
DEFINITION  probable phospholipid-transporting ATPase IM isoform X15 [Homo
            sapiens].
ACCESSION   XP_054234850
VERSION     XP_054234850.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378875.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1111
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1111
                     /product="probable phospholipid-transporting ATPase IM
                     isoform X15"
                     /calculated_mol_wt=125976
     CDS             1..1111
                     /gene="ATP8B4"
                     /gene_synonym="ATPIM"
                     /coded_by="XM_054378875.1:95..3430"
                     /db_xref="GeneID:79895"
                     /db_xref="HGNC:HGNC:13536"
                     /db_xref="MIM:609123"
ORIGIN      
        1 mtvnimksss mrlqnekwmn vkvgdiikle nnqfvaadll llsssephgl cyvetaeldg
       61 slccykdvpw vecqlfgaqe alptflkqet nlkvrhalsv tselgadisr lagfdgivvc
      121 evpnnkldkf mgilswkdsk hslnnekiil rgcilrntsw cfgmvifagp dtklmqnsgk
      181 tkfkrtsidr lmntlvlwif gfliclgiil aignsiwesq tgdqfrtflf wnegekssvf
      241 sgfltfwsyi iilntvvpis lyvsvevirl ghsyfinwdr kmyysrkaip avartttlne
      301 elgqieyifs dktgtltqni mtfkrcsing riygevhddl dqkteitqek epvdfsvksq
      361 adrefqffdh nlmesikmgd pkvheflrll alchtvmsee nsageliyqv qspdegalvt
      421 aarnfgfifk srtpetitie elgtlvtyql lafldfnntr krmsvivrnp egqiklyskg
      481 adtilfeklh psnevllslt sdhlsefage glrtlaiayr dlddkyfkew hkmledanaa
      541 teerderiag lyeeierdlm llgatavedk lqegvietvt slslanikiw vltgdkqeta
      601 inigyacnml tddmndvfvi agnnavevre elrkakqnlf gqnrnfsngh vvcekkqqle
      661 ldsiveetit gdyaliingh slahalesdv kndllelacm cktviccrvt plqkaqvvel
      721 vkkyrnavtl aigdgandvs miksahigvg isgqeglqav lasdysfaqf rylqrlllvh
      781 grwsyfrmck flcyffyknf aftlvhfwfg ffcgfsaqtv ydqwfitlfn ivytslpvla
      841 mgifdqdvsd qnsvdcpqly kpgqlnllfn krkfficvlh giytslvlff ipygafynva
      901 gedgqhiady qsfavtmats lvivvsvqia ldtsywtfin hvfiwgsiai yfsilftmhs
      961 ngifgifpnq fpfvgnarhs ltqkciwlvi llttvasvmp vvafrflkvd lyptlsdqir
     1021 rwqkaqkkar ppssrrprtr rsssrrsgya fahqegygel itsgknmrak nppptsglek
     1081 thynstswie nlckkttdtv ssfsqdktvk l
//
LOCUS       XP_054171740             510 aa            linear   PRI 20-MAR-2023
DEFINITION  hexosaminidase D isoform X8 [Homo sapiens].
ACCESSION   XP_054171740
VERSION     XP_054171740.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315765.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..510
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..510
                     /product="hexosaminidase D isoform X8"
                     /calculated_mol_wt=56410
     CDS             1..510
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /coded_by="XM_054315765.1:446..1978"
                     /db_xref="GeneID:284004"
                     /db_xref="HGNC:HGNC:26307"
                     /db_xref="MIM:616864"
ORIGIN      
        1 msgstpfqmr lvhldlkgap pkvsylseif plfralgang llieyedmfp yegplrllra
       61 kyayspseik eilhlaglne leviplvqtf ghmefvlkht afahlrevgs fpctlnphea
      121 eslalvgami dqvlelhpga qrlhigcdev yylgegeasr rwlqqeqnst gklclshmra
      181 vasgvkarrp svtplvwddm lrdlpedqla asgvpqlvep vlwdytadld vhgkvllmqk
      241 yrrcgfpqlw aasafkgatg psqavppveh hlrnhvqwlq vagsgptdsl qgiiltgwqr
      301 ydhysvlcel lpagvpslaa clqlllrerk maetrgerdp qarrprdgda aggfdedvka
      361 kvenllgiss lektdpvreg agsfpgsnil alvtqvslhl rssvdalleg nryvtgwfsp
      421 yhrqrklihp vmvqhiqpaa lsllaqwstl vqeleaalql afypdaveew leenvhpslq
      481 rlqallqdls evsapplppt spgrdvaqdp
//
LOCUS       XP_054172266             414 aa            linear   PRI 20-MAR-2023
DEFINITION  P2X purinoceptor 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054172266
VERSION     XP_054172266.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316291.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..414
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..414
                     /product="P2X purinoceptor 1 isoform X3"
                     /calculated_mol_wt=45964
     CDS             1..414
                     /gene="P2RX1"
                     /gene_synonym="P2X1"
                     /coded_by="XM_054316291.1:974..2218"
                     /db_xref="GeneID:5023"
                     /db_xref="HGNC:HGNC:8533"
                     /db_xref="MIM:600845"
ORIGIN      
        1 msgggqrlvl vpgmivpfwa spdlshrags aeseaawdap avwlsreprq awqrlahlwv
       61 flyekgyqts sglissvsvk lkglavtqlp glgpqvwdva dyvfpaqgdn sfvvmtnfiv
      121 tpkqtqgyca ehpeggicke dsgctpgkak rkaqgirtgk cvafndtvkt ceifgwcpve
      181 vdddiprisf prfkvnrrnl veevnaahmk tclfhktlhp lcpvfqlgyv vqesgqnfst
      241 laekggvvgi tidwhcdldw hvrhcrpiye fhglyeeknl spgfnfrtpd prqsppspsc
      301 hlipsprfar hfvengtnyr hlfkvfgirf dilvdgkagk fdiiptmtti gsgigifgva
      361 tvlcdllllh ilpkrhyykq kkfkyaedmg pgaaerdlaa tsstlglqen mrts
//
LOCUS       XP_054172630             476 aa            linear   PRI 20-MAR-2023
DEFINITION  U3 small nucleolar RNA-associated protein 6 homolog isoform X2
            [Homo sapiens].
ACCESSION   XP_054172630
VERSION     XP_054172630.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316655.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..476
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..476
                     /product="U3 small nucleolar RNA-associated protein 6
                     homolog isoform X2"
                     /calculated_mol_wt=55472
     CDS             1..476
                     /gene="UTP6"
                     /gene_synonym="C17orf40; HCA66"
                     /coded_by="XM_054316655.1:139..1569"
                     /db_xref="GeneID:55813"
                     /db_xref="HGNC:HGNC:18279"
ORIGIN      
        1 mrlrillytg ykvfssvpqq ngktmfnfgs pmwlfvrsgl lkldlarysl pcwrfiptnq
       61 yfrmelmhae klrkekeefe kasmdvenpd yseeilkgel awiiyknsvs iikgaefhvs
      121 llsiaqlfdf akdlqkeiyd dlqalhtddp ltwdyvarre leiesqteeq pttkqakave
      181 vgrkeercca vyeeavktlp teamwkcyit fclerftkks nsgflrgkrl ertmtvfrka
      241 helkllsecq ykqlsvsllc ynflrealev avagtelfrd sgtmwqlklq vlieskspdi
      301 amlfeeafvh lkpqvclplw iswaewsega ksqedteavf kkallaviga dsvtlknkyl
      361 dwayrsggyk karavfkslq esrpfsvdff rkmiqfekeq escnmanire yyeralrefg
      421 sadsdlwmdy mkeelnhplg rpencgqiyw ramkmlqges aeafvakham hqtghl
//
LOCUS       XP_054173063             551 aa            linear   PRI 20-MAR-2023
DEFINITION  voltage-dependent L-type calcium channel subunit beta-1 isoform X3
            [Homo sapiens].
ACCESSION   XP_054173063
VERSION     XP_054173063.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317088.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..551
                     /product="voltage-dependent L-type calcium channel subunit
                     beta-1 isoform X3"
                     /calculated_mol_wt=60256
     CDS             1..551
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /coded_by="XM_054317088.1:120..1775"
                     /db_xref="GeneID:782"
                     /db_xref="HGNC:HGNC:1401"
                     /db_xref="MIM:114207"
ORIGIN      
        1 meapsrtvvv gsaesytsrp sdsdvsleed realrkeaer qalaqlekak tkpvafavrt
       61 nvgynpspgd evpvqgvait fepkdflhik ekynndwwig rlvkegcevg fipspvklds
      121 lrllqeqklr qnrlgssksg dnsssslgdv vtgtrrptpp asakqkqkst ehvppydvvp
      181 smrpiilvgp slkgyevtdm mqkalfdflk hrfdgrisit rvtadislak rsvlnnpskh
      241 iiiersntrs slaevqseie rifelartlq lvaldadtin hpaqlsktsl apiivyikit
      301 spkvlqrlik srgksqskhl nvqiaasekl aqcppemfdi ildenqleda cehlaeylea
      361 ywkathppss tppnpllnrt mataalaasp apvsnlqgpy lasgdqpler atgehasmhe
      421 ypgelgqppg lypsshppgr agtlralsrq dtfdadtpgs rnsaytelgd scvdmetdps
      481 egpglgdpag ggtpparqgs wedeeedyee eltdnrnrgr nkarycaegg gpvlgrnkne
      541 legwgrgvyi r
//
LOCUS       XP_054174974             396 aa            linear   PRI 20-MAR-2023
DEFINITION  metallophosphoesterase 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054174974
VERSION     XP_054174974.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318999.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..396
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..396
                     /product="metallophosphoesterase 1 isoform X2"
                     /calculated_mol_wt=45010
     CDS             1..396
                     /gene="MPPE1"
                     /gene_synonym="Cdc1; PGAP5"
                     /coded_by="XM_054318999.1:740..1930"
                     /db_xref="GeneID:65258"
                     /db_xref="HGNC:HGNC:15988"
                     /db_xref="MIM:611900"
ORIGIN      
        1 mamielgfgr qnfhplkrks slllkliavv favllfcefl iyylaifqcn wpevkttasd
       61 geqttrepvl kamfladthl lgeflghwld klrrewqmer afqtalwllq pevvfilgdi
      121 fdegkwstpe awaddverfq kmfrhpshvq lkvvagnhdi gfhyemntyk verfekvfss
      181 erlfswkgin fvmvnsvaln gdgcgicset eaelievshr lncsreargs srcgpgpllp
      241 tsapvllqhy plyrrsdanc sgedaapaee rdipfkenyd vlsreasqkl lwwlqprlvl
      301 sghthsacev hhggrvpels vpsfswrnrn npsfimgsit ptdytlskcy lpredvvlii
      361 ycgvvgflvv ltlthfglla spflsglnll gkrktr
//
LOCUS       XP_054177283             268 aa            linear   PRI 20-MAR-2023
DEFINITION  glutaminyl-peptide cyclotransferase-like protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_054177283
VERSION     XP_054177283.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321308.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..268
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..268
                     /product="glutaminyl-peptide cyclotransferase-like protein
                     isoform X1"
                     /calculated_mol_wt=29474
     CDS             1..268
                     /gene="QPCTL"
                     /gene_synonym="gQC"
                     /coded_by="XM_054321308.1:39..845"
                     /db_xref="GeneID:54814"
                     /db_xref="HGNC:HGNC:25952"
ORIGIN      
        1 mrsggrgrpr lrlgerglme pllppkrrll prvrllplll alavgsafyt iwsgwhrrte
       61 elplgrelrv pligslpear lrrvvgqldp qrlwstylrp llvvrtpgsp gnlqvrkfle
      121 atlrsltagw hveldpftas tplgpvdfgn vvatldpraa rhltlachyd sklfppgstp
      181 fvgatdsavp calllelaqa ldlelsrakk qaapvtlqll fldgeealke wgpkdslygs
      241 rhlaqlmesi phspgptriq airsvctv
//
LOCUS       XP_054177474             418 aa            linear   PRI 20-MAR-2023
DEFINITION  homeobox protein Meis3 isoform X4 [Homo sapiens].
ACCESSION   XP_054177474
VERSION     XP_054177474.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321499.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..418
                     /product="homeobox protein Meis3 isoform X4"
                     /calculated_mol_wt=45660
     CDS             1..418
                     /gene="MEIS3"
                     /gene_synonym="MRG2"
                     /coded_by="XM_054321499.1:43..1299"
                     /db_xref="GeneID:56917"
                     /db_xref="HGNC:HGNC:29537"
                     /db_xref="MIM:619443"
ORIGIN      
        1 mydelphypg ivdgpaalas fpetvpavpg pygphrppqp lppgldsdgl krekdeiygh
       61 plfpllalvf ekcelatcsp rdgagaglgt ppggdvcssd sfnediaafa kqvrserplf
      121 ssnpeldnlm iqaiqvlrfh llelekvhdl cdnfchryit clkgkmpidl viedrdggcr
      181 edfedypasc pslpdqnnmw irdhedsgsv hlgtpgpssg glasqsgdns sdqgdgldts
      241 vaspssgged edldqerrrn kkrgifpkva tnimrawlfq hlsrrseapv lpdvclglgs
      301 pspgprwarp wgsdcgrpgr qsdscwwlqh pypseeqkkq laqdtgltil qvnnwfinar
      361 rrivqpmidq snrtgqgaaf spegqpiggy tetqphvavr ppgsvgmsln legewhyl
//
LOCUS       XP_054177734             391 aa            linear   PRI 20-MAR-2023
DEFINITION  hypoxia-inducible factor 3-alpha isoform X16 [Homo sapiens].
ACCESSION   XP_054177734
VERSION     XP_054177734.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321759.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..391
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..391
                     /product="hypoxia-inducible factor 3-alpha isoform X16"
                     /calculated_mol_wt=42588
     CDS             1..391
                     /gene="HIF3A"
                     /gene_synonym="bHLHe17; HIF-3A; HIF3-alpha-1; IPAS; MOP7;
                     PASD7"
                     /coded_by="XM_054321759.1:36..1211"
                     /db_xref="GeneID:64344"
                     /db_xref="HGNC:HGNC:15825"
                     /db_xref="MIM:609976"
ORIGIN      
        1 malglqrarp alscgvispp captrnshpg pgctasppap pgwpfsqrgp grwsttelrk
       61 eksrdaarsr rsqetevlyq lahtlpfarg vsahldkasi mrltisylrm hrlcaagewn
      121 qvgaggepld acylkalegf vmvltaegdm aylsenvskh lglsqlelig hsifdfihpc
      181 dqeelqdalt pqqtlsrrkv eaptercfsl rmkstltsrg rtlnlkaatw kvlncsghmr
      241 aykppaqtsp agspdseppl qclvliceai phpgsleppl grgaflsrhs ldmkftycdd
      301 riaevagysp ddligcsaye yihaldsdav sksihtsrwk rpewccpwsk rsntladpfs
      361 gapplrrtpl tlgtaltpla pgslpsctrl p
//
LOCUS       XP_047302870             551 aa            linear   PRI 20-MAR-2023
DEFINITION  sialic acid-binding Ig-like lectin 5 isoform X1 [Homo sapiens].
ACCESSION   XP_047302870
VERSION     XP_047302870.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047446914.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..551
                     /product="sialic acid-binding Ig-like lectin 5 isoform X1"
                     /calculated_mol_wt=60530
     Region          21..140
                     /region_name="IgV_CD33"
                     /note="Immunoglobulin Variable (IgV) domain at the
                     N-terminus of CD33 and related Siglecs (sialic
                     acid-binding Ig-like lectins); cd05712"
                     /db_xref="CDD:409377"
     Region          21..45
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409377"
     Region          21..25
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409377"
     Region          28..32
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409377"
     Region          34..45
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409377"
     Region          46..55
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409377"
     Region          56..63
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409377"
     Region          56..63
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409377"
     Region          64..87
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409377"
     Region          74..77
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409377"
     Region          88..121
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409377"
     Region          89..93
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409377"
     Region          99..107
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409377"
     Region          114..122
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409377"
     Site            order(119,128..129)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:409377"
     Region          122..126
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409377"
     Region          127..140
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409377"
     Region          127..140
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409377"
     Region          146..231
                     /region_name="IgC2_CD33_d2_like"
                     /note="Second immunoglobulin domain of Cluster of
                     Differentiation (CD) 33 and related Siglecs; member of the
                     C2-set of IgSF domains; cd20987"
                     /db_xref="CDD:409579"
     Region          146..150
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409579"
     Region          159..165
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409579"
     Region          177..182
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409579"
     Region          196..202
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409579"
     Region          209..216
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409579"
     Region          223..231
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409579"
     Region          254..331
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          265..269
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          278..282
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          300..304
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          311..316
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          326..329
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          <352..425
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          362..366
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          394..398
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          420..423
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..551
                     /gene="SIGLEC5"
                     /coded_by="XM_047446914.1:367..2022"
                     /db_xref="GeneID:8778"
                     /db_xref="HGNC:HGNC:10874"
                     /db_xref="MIM:604200"
ORIGIN      
        1 mlpllllpll wggslqekpv yelqvqksvt vqeglcvlvp csfsypwrsw ysspplyvyw
       61 frdgeipyya eavatnnpdr rvkpetqgrf rllgdvqkkn cslsigdarm edtgsyffrv
      121 ergrdvkysy qqnklnlevt aliekpdihf leplesgrpt rlscslpgsc eagppltfsw
      181 tgnalspldp ettrsseltl tprpedhgtn ltcqmkrqga qvttertvql nvsyapqtit
      241 ifrngialei lqntsylpvl egqalrllcd apsnppahls wfqgspalna tpisntgile
      301 lrrvrsaeeg gftcraqhpl gflqiflnls vyslpqllgp scsweaeglh crcsfrarpa
      361 pslcwrleek plegnssqgs fkvnsssagp wansslilhg glssdlkvsc kawniygsqs
      421 gsvlllqgrs nlgtgvvpaa lggagvmall ciclcliffl ivkarrkqaa grpekmdded
      481 pimgtitsgs rkkpwpdsag dqasppgdap pleeqkelhy aslsfsemks repkdqeaps
      541 tteyseikts k
//
LOCUS       XP_054197027            1209 aa            linear   PRI 20-MAR-2023
DEFINITION  myelin transcription factor 1-like protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_054197027
VERSION     XP_054197027.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341052.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1209
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1209
                     /product="myelin transcription factor 1-like protein
                     isoform X1"
                     /calculated_mol_wt=135198
     CDS             1..1209
                     /gene="MYT1L"
                     /gene_synonym="MRD39; myT1-L; NZF1; ZC2H2C2; ZC2HC4B"
                     /coded_by="XM_054341052.1:1195..4824"
                     /db_xref="GeneID:23040"
                     /db_xref="HGNC:HGNC:7623"
                     /db_xref="MIM:613084"
ORIGIN      
        1 mevdteekrh rtrskgvrvp vepaiqelfs cptpgcdgsg hvsgkyarhr svygcplakk
       61 rktqdkqpqe papkrkpfav kadsssvdec ddsdgtedmd ekeedegeey sedndepgde
      121 deedeegdre eeeeieeede dddedgedve deeeeeeeee eeeeeeened hqmnchntri
      181 mqdtekddnn ndeydnydel vaksllnlgk iaedaayrar tesemnsnts nsleddsdkn
      241 enlgrksels ldldsdvvre tvdslkllaq ghgvvlsenm ndrnyadsms qqdsrnmnyv
      301 mlgkpmnngl mekmveesde evclsslecl rnqcfdlark lsetnpqern pqqnmnirqh
      361 vrpeedfpgr tpdrnysdml nlmrleeqls prsrvfasca kedgcherdd dttsvnsdrs
      421 eevfdmtkgn ltllekaial eterakamre kmameagrrd nmrsyedqsp rqlpgedrkp
      481 kssdshvkkp yygkdpsrte kkeskcptpg cdgtghvtgl yphhrslsgc phkdrvppei
      541 lamhesvlkc ptpgctgrgh vnsnrnshrs lsgcpiaaae klakaqekhq scdvskssqa
      601 sdrvlrpmcf vkqleipqyg yrnnvptttp rsnlakelek ysktsfeyns ydnhtygkra
      661 iapkvqtrdi spkgyddakr yckdpspsss stssyapsss snlscgggss asstcskssf
      721 dythdmeaah maatailnls trcrempqnl stkpqdlcat rnpdmevden gtldlsmnkq
      781 rprdsccpil tplepmspqq qavmnnrcfq lgegdcwdlp vdytkmkprr idedeskdit
      841 pedldpfqea leerrypgev tipspkpkyp qckeskkdli tcptpgcdgs ghvtgnyash
      901 rslsgcplad ksirsmlats sqelkcptpg cdgsghitgn yashrslsgc prakksgiri
      961 aqskedkedq epircpvpgc dgqghitgky ashrsasgcp laakrqkdgy lngsqfswks
     1021 vktegmscpt pgcdgsghvs gsflthrsls gcpratsamk kaklsgeqml tikqrasngi
     1081 endeeikqld eeikelnesn sqmeadmikl rtqvtittme snlktieeen kvieqqnesl
     1141 lhelanlsqs lihslaniql phmdpineqn fdayvttlte mytnqdryqs penkalleni
     1201 kqavrgiqv
//
LOCUS       XP_054199677             325 aa            linear   PRI 20-MAR-2023
DEFINITION  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X20 [Homo
            sapiens].
ACCESSION   XP_054199677
VERSION     XP_054199677.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343702.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..325
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..325
                     /product="D-2-hydroxyglutarate dehydrogenase,
                     mitochondrial isoform X20"
                     /calculated_mol_wt=34654
     CDS             1..325
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /coded_by="XM_054343702.1:159..1136"
                     /db_xref="GeneID:728294"
                     /db_xref="HGNC:HGNC:28358"
                     /db_xref="MIM:609186"
ORIGIN      
        1 mlprrplawp awllrgapga agswgrpvgp larrgccsap gtpevpltre rypvrrlpfs
       61 tvskqdlaaf erivpggvvt dpealqapnv dwlrtlrgcs kvllrprtse evshilrhch
      121 ernlavnpqg gntgmvggsv pvfdeiilst armnrvlsfh svsgilvcqa gcvleelsry
      181 veerdfimpl dlgakgschi ggnvatnagg lrflrygslh gtvlglevvl adgtvldclt
      241 slrkdntgyd lkqlfigseg tlgiittvsi lcppkpravn vaflvtcvpp acgpgsprpa
      301 rlphpalrtp glrqeslass chahv
//
LOCUS       XP_054180283             741 aa            linear   PRI 20-MAR-2023
DEFINITION  double-stranded RNA-specific editase 1 isoform X5 [Homo sapiens].
ACCESSION   XP_054180283
VERSION     XP_054180283.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324308.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..741
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..741
                     /product="double-stranded RNA-specific editase 1 isoform
                     X5"
                     /calculated_mol_wt=80633
     CDS             1..741
                     /gene="ADARB1"
                     /gene_synonym="ADAR2; DRABA2; DRADA2; NEDHYMS; RED1"
                     /coded_by="XM_054324308.1:264..2489"
                     /db_xref="GeneID:104"
                     /db_xref="HGNC:HGNC:226"
                     /db_xref="MIM:601218"
ORIGIN      
        1 mdiedeenms ssstdvkenr nldnvspkdg stpgpgegsq lsngggggpg rkrpleegsn
       61 ghskyrlkkr rktpgpvlpk nalmqlneik pglqytllsq tgpvhaplfv msvevngqvf
      121 egsgptkkka klhaaekalr sfvqfpnase ahlamgrtls vntdftsdqa dfpdtlfngf
      181 etpdkaeppf yvgsngddsf sssgdlslsa spvpaslaqp plpvlppfpp psgknpvmil
      241 nelrpglkyd flsesgesha ksfvmsvvvd gqffegsgrn kklakaraaq salaaifnlh
      301 ldqtpsrqpi pseglqlhlp qvladavsrl vlgkfgdltd nfsspharrk vlagvvmttg
      361 tdvkdakvis vstgtkcing eymsdrglal ndchaeiisr rsllrflytq lelylnnkdd
      421 qkrsifqkse rggfrlkenv qfhlyistsp cgdarifsph epilegsrsy tqagvqwcnh
      481 gslqprppgl lsdpststfq gagttepadr hpnrkargql rtkiesgegt ipvrsnasiq
      541 twdgvlqger lltmscsdki arwnvvgiqg sllsifvepi yfssiilgsl yhgdhlsram
      601 yqrisniedl pplytlnkpl lsgisnaear qpgkapnfsv nwtvgdsaie vinattgkde
      661 lgrasrlckh alycrwmrvh gkvpshllrs kitkpnvyhe sklaakeyqa akarlftafi
      721 kaglgawvek pteqdqfslt p
//
LOCUS       XP_054181137            1250 aa            linear   PRI 20-MAR-2023
DEFINITION  meiosis inhibitor protein 1 isoform X6 [Homo sapiens].
ACCESSION   XP_054181137
VERSION     XP_054181137.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325162.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1250
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1250
                     /product="meiosis inhibitor protein 1 isoform X6"
                     /calculated_mol_wt=138168
     CDS             1..1250
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /coded_by="XM_054325162.1:37..3789"
                     /db_xref="GeneID:150365"
                     /db_xref="HGNC:HGNC:28613"
                     /db_xref="MIM:608797"
ORIGIN      
        1 mavrqaatag tpgprreeea allferahyr hdprwllpvt prlclacale llpdpgvslv
       61 rkkhmlscfq dalvrhtslv tqlvsqdqrv cihfisvlfg llcsmedgsv tdlcievliq
      121 ittqlkleqt irclldechk elcnmpsmrg slatltllgk lvdaipalad elvmehgnlm
      181 ehllrglvyp segiqasvcy lygklysspv aaemlsghfr eklfplflsi ldgaqtkelq
      241 inclgllrql lkydlfvsmi mnqdglgesa kniegssgnt slplvlkkll lsrdetlqva
      301 sahcitavlv hspakhasaf ihadipgiea vvrslqgslk mnnielhkqg lllfaeiltr
      361 qpeeiklfts samcrdagra lqeavsspvl evaaealkat saflrkdhqs tppvqygelq
      421 alleamlnrc aefsqtllsr rplghassrd sekailqrgk fllstlegfr sacrlaiefq
      481 sepsaqenpf tapsakkedt leafseflls acdslcipmv mrhleqtthp almevflsil
      541 hnlfvivphm kekfskklas ssfirltlel karfcsglsh salnqvcsnf lyymclnlls
      601 apektgppsk eelsavsell qhglpqissr speslaflsd rqymegaarq rqycilllfy
      661 layihedrfv seaelfeavq sfllslqdqg erpplvvfka siyllaicqd kdntlretmv
      721 sairkflegi pdlqlvythh plllrfflly pelmsryghr vlelwffwee ssyeelddvt
      781 sagqpalpas lvvlfqllrs ipsillilld liysspvdta hkvlislrtf lrrnediqvg
      841 glirghflli lqrllvehga spsgasgnlp lllsllslmq lrnvseqeld svamkllhqv
      901 sklcgkcspt dvdilqpsfn flywslhqtt pssqkraaav llsstglmel lekmlaltla
      961 kadsprtall csawlltasf saqqhkgslq asrtwglaly pvpcqvhqtl svemdqvlka
     1021 lsfpkkkaal lsaailcflr talrqsfssa lvalvpsgaq plpatkdtvl aplrmsqvrs
     1081 lviglqnllv qkdpllsqac vgclealldy ldarspdial hvasqpwnrf llftlldage
     1141 nsflrpeilr lmtlfmryrs ssvlsheevg dvlqgvalad lstlsnttlq alhgffqqlq
     1201 smghladhsm aqtlqasleg lppstssgqp plqdmlclgg vavslshirn
//
LOCUS       XP_054202693             434 aa            linear   PRI 20-MAR-2023
DEFINITION  CCA tRNA nucleotidyltransferase 1, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_054202693
VERSION     XP_054202693.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346718.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..434
                     /product="CCA tRNA nucleotidyltransferase 1, mitochondrial
                     isoform X1"
                     /calculated_mol_wt=50013
     CDS             1..434
                     /gene="TRNT1"
                     /gene_synonym="CCA1; CGI-47; MtCCA; RPEM; SIFD"
                     /coded_by="XM_054346718.1:378..1682"
                     /db_xref="GeneID:51095"
                     /db_xref="HGNC:HGNC:17341"
                     /db_xref="MIM:612907"
ORIGIN      
        1 mlrclyhwhr pvlnrrwsrl cllkqylftm klqspefqsl fteglkslte lfvkenhelr
       61 iaggavrdll ngvkpqdidf attatptqmk emfqsagirm innrgekhgt itarlheenf
      121 eittlridvt tdgrhaevef ttdwqkdaer rdltinsmfl gfdgtlfdyf ngyedlknkk
      181 vrfvghakqr iqedylrilr yfrfygrivd kpgdhdpetl eaiaenakgl agisgeriwv
      241 elkkilvgnh vnhlihliyd ldvapyiglp anasleefdk vsknvdgfsp kpvtllaslf
      301 kvqddvtkld lrlkiakeek nlglfivknr kdlikatdss dplkpyqdfi idsrepdatt
      361 rvcellkyqg ehcllkemqq wsippfpvsg hdirkvgiss gkeigallqq lreqwkksgy
      421 qmekdellsy ikkt
//
LOCUS       XP_054202958             580 aa            linear   PRI 20-MAR-2023
DEFINITION  SID1 transmembrane family member 1 isoform X15 [Homo sapiens].
ACCESSION   XP_054202958
VERSION     XP_054202958.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346983.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..580
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..580
                     /product="SID1 transmembrane family member 1 isoform X15"
                     /calculated_mol_wt=65925
     CDS             1..580
                     /gene="SIDT1"
                     /gene_synonym="SID-1; SID1"
                     /coded_by="XM_054346983.1:140..1882"
                     /db_xref="GeneID:54847"
                     /db_xref="HGNC:HGNC:25967"
                     /db_xref="MIM:606816"
ORIGIN      
        1 mqkkdfpgeq ffvvfvikpe dyacggsffi qekenqtwnl qrkknlevti vpsikesvyv
       61 ksslfsvfif lsfylgcllv gfvhylrfqr ksidgsfgsn dgsgnmvash piaastpegs
      121 nygtidesss spgrqmsssd ggppgqsdtd ssveesdfdt mpdiesdkni irtkmflyls
      181 dlsrkdrriv skkykiyfwn iitiavfyal pviqlvityq tvvnvtgnqd icyynflcah
      241 plgvlsafnn ilsnlghvll gflfllivlr rdilhrrale akdifaveyg ipkhfglfya
      301 mgialmmegv lsacyhvcpn ysnfqfdtsf mymiaglcml klyqtrhpdi nasacsayas
      361 favvimvtvl gvvfgkndvw fwvifsaihv laslalstqi yymgrfkidl gifrraamvf
      421 ytdciqqcsr plymdrmvll vvgnlvnwsf alfgliyrpr dfasymlgif icnlllylaf
      481 yiimklrsse kvlpvplfci vatavmwaaa lyfffqnlss wegtpaesre knrecilldf
      541 fddhdiwhfl satalffsfl vlltldddld vvrrdqipvf
//
LOCUS       XP_054205471             429 aa            linear   PRI 20-MAR-2023
DEFINITION  cystine/glutamate transporter isoform X7 [Homo sapiens].
ACCESSION   XP_054205471
VERSION     XP_054205471.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349496.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..429
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..429
                     /product="cystine/glutamate transporter isoform X7"
                     /calculated_mol_wt=47909
     CDS             1..429
                     /gene="SLC7A11"
                     /gene_synonym="CCBR1; xCT"
                     /coded_by="XM_054349496.1:322..1611"
                     /db_xref="GeneID:23657"
                     /db_xref="HGNC:HGNC:11059"
                     /db_xref="MIM:607933"
ORIGIN      
        1 msltiwtvcg vlslfgalsy aelgttikks gghytyilev fgplpafvrv wvelliirpa
       61 atavislafg ryilepffiq ceipelaikl itavgitvvm vlnsmsvsws ariqifltfc
      121 kltailiiiv pgvmqlikgq tqnfkdafsg rdssitrlpl afyygmyaya gwfylnfvte
      181 evenpektip laicismaiv tigyvltnva yfttinaeel llsnavavtf serllgnfsl
      241 avpifvalsc fgsmnggvfa vsrlfyvasr eghlpeilsm ihvrkhtplp avivlhpltm
      301 imlfsgdlds llnflsfarw lfiglavagl iylrykcpdm hrpfkvplfi palfsftclf
      361 mvalslysdp fstgigfvit ltgvpayylf iiwdkkprwf rimsvtentk crlintplfk
      421 ervprvdyp
//
LOCUS       XP_054210641             939 aa            linear   PRI 20-MAR-2023
DEFINITION  signal peptide, CUB and EGF-like domain-containing protein 3
            isoform X4 [Homo sapiens].
ACCESSION   XP_054210641
VERSION     XP_054210641.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354666.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..939
                     /product="signal peptide, CUB and EGF-like
                     domain-containing protein 3 isoform X4"
                     /calculated_mol_wt=103583
     CDS             1..939
                     /gene="SCUBE3"
                     /gene_synonym="CEGF3; SSFSC2"
                     /coded_by="XM_054354666.1:464..3283"
                     /db_xref="GeneID:222663"
                     /db_xref="HGNC:HGNC:13655"
                     /db_xref="MIM:614708"
ORIGIN      
        1 mgsgrvpglc llvllvhara aqyskaaqdv decvegtdnc hidaicqntp rsykcicksg
       61 ytgdgkhckd vdeceredna gcvhdcvnip gnyrctcydg fhlahdghnc ldvdecaegn
      121 ggcqqscvnm mgsyechcre gfflsdnqht ciqrpeegmn cmnknhgcah icretpkggi
      181 acecrpgfel tknqrdcklt cnygnggcqh tcddteqgpr cgchikfvlh tdgktcietc
      241 avnnggcdsk chdaatgvhc tcpvgfmlqp drktckdide crlnnggcdh icrntvgsfe
      301 csckkgykll inerncqdid ecsfdrtcdh icvntpgsfq clchrgylly githcgdvde
      361 csinrggcrf gcintpgsyq ctcpagqgrl hwngkdctep lkcqgspgas kamlscnrsg
      421 kkdtcaltcp srarflpese ngftvscgtp spraaparag hngnstnsnh cheaavlsik
      481 qrasfkikda kcrlhlrnkg kteeagritg pggapcsecq vtfihlkcds srkgkgrrar
      541 tppgkevtrl tleleaevra eettascglp clrqrmerrl kgslkmlrks inqdrfllrl
      601 agldyelahk pglvagerae pmescrpgqh ragtkcgqcp pgqhsvdgfk pcqpcprgty
      661 qpeagrtlcf pcggglttkh egaisfqdcd tkvqcspghy yntsihrcir camgsyqpdf
      721 rqnfcsrcpg ntstdfdgst svaqcknrqc ggelgeftgy iespnypgny pagveciwni
      781 npppkrkili vvpeiflpse decgdvlvmr knsspssitt yetcqtyerp iaftarsrkl
      841 winfktsean sargfqipyv tydedyeqlv edivrdgrly asenhqeilk dkklikaffe
      901 vlahpqnyfk ytekhkemlp ksfikllrsk vssflrpyk
//
LOCUS       XP_054211829             924 aa            linear   PRI 20-MAR-2023
DEFINITION  exocyst complex component 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054211829
VERSION     XP_054211829.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355854.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..924
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..924
                     /product="exocyst complex component 2 isoform X1"
                     /calculated_mol_wt=103936
     CDS             1..924
                     /gene="EXOC2"
                     /gene_synonym="NEDFACH; SEC5; SEC5L1; Sec5p"
                     /coded_by="XM_054355854.1:535..3309"
                     /db_xref="GeneID:55770"
                     /db_xref="HGNC:HGNC:24968"
                     /db_xref="MIM:615329"
ORIGIN      
        1 msrsrqpplv tgispnegip wtkvtirgen lgtgptdlig lticghncll taewmsaski
       61 vcrvgqaknd kgdiivttks ggrgtstvsf kllkpekigi ldqsavwvde mnyydmrtdr
      121 nkgipplslr panplgieie kskfsqkdle mlfhgmsadf tsenfsaawy lienhsntsf
      181 eqlkmavtnl krqankkseg slayvkggls tffeaqdals aihqkleadg tekvegsmtq
      241 klenvlnras ntadtlfqev lgrkdkadst rnalnvlqrf kflfnlplni erniqkgdyd
      301 vvindyekak slfgktevqv fkkyyaevet riealrelll dklletpstl hdqkryiryl
      361 sdlhasgdpa wqcigaqhkw ilqlmhscke gyvkdlkgnp glhspmldld ndtrpsvlgh
      421 lsqtaslkrg ssfqsgrddt wryktphrva fvekltklvl sqlpnfwklw isyvngslfs
      481 etaeksgqie rsknvrqrqn dfkkmiqevm hslvkltrga llplsirdge akqyggwevk
      541 celsgqwlah aiqtvrlthe sltaleipnd llqtiqdlil dlrvrcvmat lqhtaeeikr
      601 laekedwivd negltslpcq feqcivcslq slkgvleckp geasvfqqpk tqeevcqlsi
      661 nimqvfiycl eqlstkpdad idtthlsvdv sspdlfgsih edfsltseqr llivlsnccy
      721 lerhtflnia ehfekhnfqg iekitqvsma slkeldqrlf enyielkadp ivgslepgiy
      781 agyfdwkdcl pptgvrnylk ealvniiavh aevftiskel vprvlskvie avseelsrlm
      841 qcvssfskng alqarleica lrdtvavylt peskssfkqa lealpqlssg adkklleell
      901 nkfkssmhlq ltcfqaasst mmkt
//
LOCUS       XP_054212308             539 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 26 isoform X1 [Homo sapiens].
ACCESSION   XP_054212308
VERSION     XP_054212308.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356333.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..539
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..539
                     /product="tripartite motif-containing protein 26 isoform
                     X1"
                     /calculated_mol_wt=62035
     CDS             1..539
                     /gene="TRIM26"
                     /gene_synonym="AFP; RNF95; ZNF173"
                     /coded_by="XM_054356333.1:463..2082"
                     /db_xref="GeneID:7726"
                     /db_xref="HGNC:HGNC:12962"
                     /db_xref="MIM:600830"
ORIGIN      
        1 matsaplrsl eeevtcsicl dylrdpvtid cghvfcrsct tdvrpisgsr pvcplckkpf
       61 kkenirpvwq laslvenier lkvdkgrqpg evtreqqdak lcerhreklh yyceddgkll
      121 cvmcresreh rphtavlmek aaqphrekil nhlstlrrdr dkiqgfqakg eadilaalkk
      181 lqdqrqyiva efeqghqflr ereehlleql akleqelteg rekfksrgvg elarlalvis
      241 elegkaqqpa aelmqdtrdf lnryprkkfw vgkpiarvvk kktgefsdkl lslqrglref
      301 qgkllrdley ktvsvtldpq sasgylqlse dwkcvtytsl yksaylhpqq fdcepgvlgs
      361 kgftwgkvyw eveveregws edeeegdeee egeeeeeeee agygdgyddw etdedeeslg
      421 deeeeeeeee eevlescmvg vardsvkrkg dlslrpedgv walrlsssgi wantspeael
      481 fpalrprrvg ialdyeggtv tftnaesqel iytftatftr rlvpflwlkw pgtrlllrp
//
LOCUS       XP_054212835             369 aa            linear   PRI 20-MAR-2023
DEFINITION  pre-mRNA-splicing regulator WTAP isoform X3 [Homo sapiens].
ACCESSION   XP_054212835
VERSION     XP_054212835.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356860.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..369
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..369
                     /product="pre-mRNA-splicing regulator WTAP isoform X3"
                     /calculated_mol_wt=40958
     CDS             1..369
                     /gene="WTAP"
                     /gene_synonym="Mum2"
                     /coded_by="XM_054356860.1:2367..3476"
                     /db_xref="GeneID:9589"
                     /db_xref="HGNC:HGNC:16846"
                     /db_xref="MIM:605442"
ORIGIN      
        1 mrwkqyeayv qalegkytdl nsndvtglre seeklkqqqq esarrenilv mrlatkeqem
       61 qecttqiqyl kqvqqpsvaq lrstmvdpai nlfflkmkge leqtkdkleq aqnelsawkf
      121 tpdsqtgkkl makcrmliqe nqelgrqlsq griaqleael alqkkyseel kssqdelndf
      181 iiqldeeveg mqstilvlqq qlketrqqla qyqqqqsqas apstsrttas epveqseats
      241 kdcsrltngp sngsssrqrt sgsgfhregn tteddfpssp gngnkssnss eertgrggsg
      301 yvnqlsagye svdsptgsen slthqsndtd sshdpqeeka vsgkgnrtvg srhvqnglds
      361 svnvqgsvl
//
LOCUS       XP_054212958             372 aa            linear   PRI 20-MAR-2023
DEFINITION  actin-related protein 2/3 complex subunit 1B isoform X1 [Homo
            sapiens].
ACCESSION   XP_054212958
VERSION     XP_054212958.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356983.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..372
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..372
                     /product="actin-related protein 2/3 complex subunit 1B
                     isoform X1"
                     /calculated_mol_wt=40819
     CDS             1..372
                     /gene="ARPC1B"
                     /gene_synonym="ARC41; IMD71; p40-ARC; p41-ARC; PLTEID"
                     /coded_by="XM_054356983.1:24..1142"
                     /db_xref="GeneID:10095"
                     /db_xref="HGNC:HGNC:704"
                     /db_xref="MIM:604223"
ORIGIN      
        1 mayhsflvep ischawnkdr tqiaicpnnh evhiyeksga kwtkvhelke hngqvtgidw
       61 apesnrivtc gtdrnayvwt lkgrtwkptl vilrinraar cvrwapnenk favgsgsrvi
      121 sicyfeqend wwvckhikkp irstvlsldw hpnnvllaag scdfkcrifs ayikeveerp
      181 aptpwgskmp fgelmfesss scgwvhgvcf sasgsrvawv shdstvclad adkkmavatl
      241 asetlpllal tfitdnslva aghdcfpvlf tydaaagmls fggrldvpkq ssqrgltare
      301 rfqnldkkas seggtaagag ldslhknsvs qisvlsggka kcsqfcttgm dggmsiwdvk
      361 slesalkdlk ik
//
LOCUS       XP_054217369             528 aa            linear   PRI 20-MAR-2023
DEFINITION  protein phosphatase 1 regulatory subunit 16A isoform X3 [Homo
            sapiens].
ACCESSION   XP_054217369
VERSION     XP_054217369.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361394.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..528
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..528
                     /product="protein phosphatase 1 regulatory subunit 16A
                     isoform X3"
                     /calculated_mol_wt=57680
     CDS             1..528
                     /gene="PPP1R16A"
                     /gene_synonym="MYPT3"
                     /coded_by="XM_054361394.1:1160..2746"
                     /db_xref="GeneID:84988"
                     /db_xref="HGNC:HGNC:14941"
                     /db_xref="MIM:609172"
ORIGIN      
        1 maehlellae mpmvgrmstq erlkhaqkrr aqqvkmwaqa ekeaqgkkgp gerprkeaas
       61 qgllkqvlfp psvvlleaaa rndleevrqf lgsgvspdla nedgltalhq cciddfremv
      121 qqlleagani nacdsecwtp lhaaatcghl hlvelliasg anllavntdg nmpydlcdde
      181 qtldcletam adrgitqdsi eaaravpelr mlddirsrlq agadlhapld hgatllhvaa
      241 angfseaaal llehraslsa kdqdgweplh aaaywgqvpl vellvahgad lnakslmdet
      301 pldvcgdeev rakllelkhk hdallraqsr qrsllrrrts sagsrgkvvr rvsltqrtdl
      361 yrkqhaqeai vwqqppptsp eppednddrq tgaelrpppp eednpevvrp hngrvggspv
      421 rhlyskrldr svsyqlspld sttphtlvhd kahhtladlk rqraaaklqr pppegpespe
      481 taepglpgdt vtpqpdcgfr aggdppllkl tapaveapve rrpccllm
//
LOCUS       XP_054182251             747 aa            linear   PRI 20-MAR-2023
DEFINITION  histone deacetylase 6 isoform X3 [Homo sapiens].
ACCESSION   XP_054182251
VERSION     XP_054182251.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326276.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..747
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..747
                     /product="histone deacetylase 6 isoform X3"
                     /calculated_mol_wt=82352
     CDS             1..747
                     /gene="HDAC6"
                     /gene_synonym="CPBHM; HD6; JM21; PPP1R90"
                     /coded_by="XM_054326276.1:159..2402"
                     /db_xref="GeneID:10013"
                     /db_xref="HGNC:HGNC:14064"
                     /db_xref="MIM:300272"
ORIGIN      
        1 mekkslsarv ptgrqklgga sqgrslrkgl rpmsganrgr gqasstmtst gqdstttrqr
       61 rsrqnpqspp qdssvtskrn ikkgavprsi pnlaevkkkg kmkklgqame edlivglqgm
      121 dlnleaeala gtglvldeql nefhclwdds fpegperlha ikeqliqegl ldrcvsfqar
      181 faekeelmlv hsleyidlme ttqymnegel rvladtydsv ylhpnsysca clasgsvlrl
      241 vdavlgaeir ngmaiirppg hhaqhslmdg ycmfnhvava aryaqqkhri rrvlivdwdv
      301 hhgqgtqftf dqdpsvlyfs ihryeqgrfw phlkasnwst tgfgqgqgyt invpwnqvgm
      361 rdadyiaafl hvllpvalef qpqlvlvaag fdalqgdpkg emaatpagfa qlthllmgla
      421 ggklilsleg gynlralaeg vsaslhtllg dpcpmlespg apcrsaqasv scalealepf
      481 wevlvrstet verdnmeedn veeseeegpw eppvlpiltw pvlqsrtglv ydqnmmnhcn
      541 lwdshhpevp qrilrimcrl eelglagrcl tltprpatea elltchsaey vghlratekm
      601 ktrelhress nfdsiyicps tfacaqlatg aacrlveavl sgevlngaav vrppghhaeq
      661 daacgfcffn svavaarhaq tisghalril ivdwdvhhgn gtqhmfeddp sltqnwcwsq
      721 lalmlhggir wgaarchlrv mptsptc
//
LOCUS       XP_054182925            2017 aa            linear   PRI 20-MAR-2023
DEFINITION  host cell factor 1 isoform X11 [Homo sapiens].
ACCESSION   XP_054182925
VERSION     XP_054182925.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326950.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2017
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2017
                     /product="host cell factor 1 isoform X11"
                     /calculated_mol_wt=207414
     CDS             1..2017
                     /gene="HCFC1"
                     /gene_synonym="CFF; HCF; HCF-1; HCF1; HFC1; MAHCX; MRX3;
                     PPP1R89; VCAF; XLID3"
                     /coded_by="XM_054326950.1:979..7032"
                     /db_xref="GeneID:3054"
                     /db_xref="HGNC:HGNC:4839"
                     /db_xref="MIM:300019"
ORIGIN      
        1 masavspanl pavllqprwk rvvgwsgpvp rprhghrava ikelivvfgg gnegivdelh
       61 vyntatnqwf ipavrgdipp gcaaygfvcd gtrllvfggm veygkysndl yelqasrwew
      121 krlkaktpkn gpppcprlgh sfslvgnkcy lfgglandse dpknnipryl ndlyilelrp
      181 gsgvvawdip itygvlpppr eshtavvyte kdnkksklvi yggmsgcrlg dlwtldidtl
      241 twnkpslsgv aplprslhsa ttignkmyvf ggwvplvmdd vkvathekew kctntlacln
      301 ldtmawetil mdtlednipr araghcavai ntrlyiwsgr dgyrkawnnq vcckdlwyle
      361 tekpppparv qlvrantnsl evswgavata dsyllqlqky dipataatat sptpnpvpsv
      421 panppkspap aaaapavqpl tqvgitllpq aapapptttt iqvlptvpgs sisvptaart
      481 qgvpavlkvt gpqattgtpl vtmrpasqag kapvtvtslp agvrmvvptq saqgtvsnpa
      541 trmlktaaaq vgtsvssatn tstrpiitvh ksgtvtvaqq aqvvttvvgg vtktitlvks
      601 pisvpggsal isnlgkvmsv vqtkpvqtsa vtgqastgpv tqiiqtkgpl pagtilklvt
      661 sadgkpttii tttqasgagt kptilgissv spsttkpgtt tiiktipmsa iitqagatgv
      721 tsspgikspi tiittkvmts gtgapakiit avpkiatghg qqgvtqvvlk gapgqpgtil
      781 rtvpmggvrl vtpvtvsavk pavttlvvkg ttgvttlgtv tgtvstslag agghstsasl
      841 atpittlgti atlssqvinp taitvsaaqt tltaaggltt ptitmqpvsq ptqvtlitap
      901 sgveaqpvhd lpvsilaspt teqptatvti adsgqgdvqp gtvtlvcsnp pcethetgtt
      961 ntatttvvan lgghpqptqv qfvcdrqeaa aslvtstvgq qngsvvrvcs nppcethetg
     1021 ttntattats nmagqhgcsn ppcethetgt tntattamss vganhqrdar racaagtpav
     1081 irisvatgal eaaqgsksqc qtrqtsatst tmtvmatgap csagpllgps marepggrsp
     1141 afvqlaplss kvrlsspsik dlpagrhsha vstaamtrss vgageprmap vceslqggsp
     1201 sttvtvtale allcpsatvt qvcsnppcet hetgttntat tsnagsaqrv csnppcethe
     1261 tgtthtatta tsnggtgqpe ggqqppagrp cethqttstg ttmsvsvgal lpdatsshrt
     1321 vesglevaaa psvtpqagta llapfptqrv csnppcethe tgtthtattv tsnmssnqdp
     1381 ppaasdqgev estqgdsvni tsssaitttv sstltravtt vtqstpvpgp svpkissmte
     1441 tapralttev pipakitvti antetsdmpf savdilqppe elqvspgprq qlpprqllqs
     1501 astalmgesa evlsasqtpe lpaavdlsst gepssgqesa gsavvatvvv qpppptqsev
     1561 dqlslpqelm aeaqagtttl mvtgltpeel avtaaaeaaa qaaateeaqa laiqavlqaa
     1621 qqavmagtge pmdtseaaat vtqaelghls aegqegqatt ipivltqqel aalvqqqqlq
     1681 eaqaqqqhhh lptealapad slndpaiesn clnelagtvp stvallpsta teslapsntf
     1741 vapqpvvvas paklqaaatl tevangiesl gvvsrkpdlp pppskapmkk enqwfdvgvi
     1801 kgtnvmvthy flppddavps dddlgtvpdy nqlkkqelqp gtaykfrvag inacgrgpfs
     1861 eisafktclp gfpgapcaik iskspdgahl tweppsvtsg kiieysvyla iqssqaggel
     1921 ksstpaqlaf mrvycgpsps clvqssslsn ahidyttkpa iifriaarne kgygpatqvr
     1981 wlqetskdss gtkpankrpm sspemksapk kskadgq
//
LOCUS       XP_054183195             189 aa            linear   PRI 20-MAR-2023
DEFINITION  cancer/testis antigen family 45 member A1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054183195
VERSION     XP_054183195.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327220.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..189
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..189
                     /product="cancer/testis antigen family 45 member A1
                     isoform X1"
                     /calculated_mol_wt=21142
     CDS             1..189
                     /gene="CT45A1"
                     /gene_synonym="CT45; CT45-1; CT45.1"
                     /coded_by="XM_054327220.1:91..660"
                     /db_xref="GeneID:541466"
                     /db_xref="HGNC:HGNC:33267"
                     /db_xref="MIM:300648"
ORIGIN      
        1 mtdktekvav dpetvfkrpr ecdspsyqkr qrmallarkq gagdsliags amskakklmt
       61 ghaippsqld sqiddftgfs kdrmmqkpgs napvggnvts sfsgddlecr etasspksqr
      121 einadikrkl vkelrcvgqk yekifemleg vqgptavrkr ffesiikeaa rcmrrdfvkh
      181 lkkklkrmi
//
LOCUS       XP_054183836             162 aa            linear   PRI 20-MAR-2023
DEFINITION  MICOS complex subunit MIC26 isoform X3 [Homo sapiens].
ACCESSION   XP_054183836
VERSION     XP_054183836.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327861.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..162
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..162
                     /product="MICOS complex subunit MIC26 isoform X3"
                     /calculated_mol_wt=18301
     CDS             1..162
                     /gene="APOO"
                     /gene_synonym="FAM121B; Mic23; MIC26; MICOS26; My025"
                     /coded_by="XM_054327861.1:237..725"
                     /db_xref="GeneID:79135"
                     /db_xref="HGNC:HGNC:28727"
                     /db_xref="MIM:300753"
ORIGIN      
        1 mfklslysvp egqskyveea rsqleesisq lrhycepytt wcqetysqtk pkmqslvqwg
       61 ldsydylqna ppgffprlgv igfagligll largskikkl vyppgfmgla aslyypqqai
      121 vfaqvsgerl ydwglrgyiv iedlwkenfq kpgnvknspg tk
//
LOCUS       NP_001384316             464 aa            linear   PRI 24-MAR-2023
DEFINITION  putative protein FAM90A7 [Homo sapiens].
ACCESSION   NP_001384316
VERSION     NP_001384316.1
DBSOURCE    REFSEQ: accession NM_001397387.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 464)
  AUTHORS   Bosch N, Escaramis G, Mercader JM, Armengol L and Estivill X.
  TITLE     Analysis of the multi-copy gene family FAM90A as a copy number
            variant in different ethnic backgrounds
  JOURNAL   Gene 420 (2), 113-117 (2008)
   PUBMED   18602769
REFERENCE   2  (residues 1 to 464)
  AUTHORS   Bosch N, Caceres M, Cardone MF, Carreras A, Ballana E, Rocchi M,
            Armengol L and Estivill X.
  TITLE     Characterization and evolution of the novel gene family FAM90A in
            primates originated by multiple duplication and rearrangement
            events
  JOURNAL   Hum Mol Genet 16 (21), 2572-2582 (2007)
   PUBMED   17684299
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC134684.5.
            
            Summary: FAM90A7 belongs to subfamily II of the primate-specific
            FAM90A gene family, which originated from multiple duplications and
            rearrangements (Bosch et al., 2007 [PubMed 17684299]). For
            background information on the FAM90A gene family, as well as
            information on the evolution of FAM90A genes, see FAM90A1 (MIM
            613041).[supplied by OMIM, Oct 2009].
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1970526, SAMEA2148874
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000650288.1/ ENSP00000497076.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..464
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     Protein         1..464
                     /product="putative protein FAM90A7"
                     /note="putative protein FAM90A7P; family with sequence
                     similarity 90 member A7, pseudogene; putative protein
                     FAM90A9P"
                     /calculated_mol_wt=49673
     Region          1..42
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKC0.1)"
     Region          <25..420
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          41..82
                     /region_name="zf-CCHC_6"
                     /note="Zinc knuckle; pfam15288"
                     /db_xref="CDD:434599"
     Region          69..387
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKC0.1)"
     Region          410..437
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKC0.1)"
     CDS             1..464
                     /gene="FAM90A7"
                     /gene_synonym="FAM90A7P"
                     /coded_by="NM_001397387.1:1..1395"
                     /db_xref="CCDS:CCDS47778.1"
                     /db_xref="GeneID:441317"
                     /db_xref="HGNC:HGNC:32255"
                     /db_xref="MIM:613044"
ORIGIN      
        1 mmarrdpksw akrlvraqtl qkqrrapvgp rspppdeedp rlkckncgaf ghtarstrcp
       61 mkcwkaalvp atlgkkegke nlkpwkprae anpgplnkdk gekeerprqq dpqrnallhm
      121 fsgkppekpl pngkgstess ehlrvasgpm pvhttskrpr vdpvladrsa temsgrgsvl
      181 aslsplrkas lssssslgpk erqtgaaadi pqpafrhqgp epllvvkpth sspeggcrev
      241 pqaaskthgl lqavrpqaqd krpavtsqpc ppaathslgl gsnlsfgpga krpaqapiqa
      301 clnfpkkprl gpfqipesai qggelrapen lqpppaatel gpstspqmgr rtpaqvpsvd
      361 rqpphstpcl ptaqactmsh hpaaghdgaq plrvlfrrle ngrwssslla apsfhspekp
      421 gaflaqsphv sekseapcvr vppsvlyedl qvssssedsd sdle
//
LOCUS       NP_004449                670 aa            linear   PRI 26-MAR-2023
DEFINITION  long-chain-fatty-acid--CoA ligase 4 isoform 1 [Homo sapiens].
ACCESSION   NP_004449
VERSION     NP_004449.1
DBSOURCE    REFSEQ: accession NM_004458.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 670)
  AUTHORS   He W, Lin X and Chen K.
  TITLE     Specificity protein 1-mediated ACSL4 transcription promoted the
            osteoarthritis progression through suppressing the ferroptosis of
            chondrocytes
  JOURNAL   J Orthop Surg Res 18 (1), 188 (2023)
   PUBMED   36899378
  REMARK    GeneRIF: Specificity protein 1-mediated ACSL4 transcription
            promoted the osteoarthritis progression through suppressing the
            ferroptosis of chondrocytes.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 670)
  AUTHORS   Yu W, Wang L, Liu S, Liu Y, Wang S and Sun X.
  TITLE     Combination of serum ACSL4 levels and low-dose 256-slice spiral CT
            exhibits the potential in the early screening of lung cancer
  JOURNAL   Medicine (Baltimore) 102 (5), e32733 (2023)
   PUBMED   36749237
  REMARK    GeneRIF: Combination of serum ACSL4 levels and low-dose 256-slice
            spiral CT exhibits the potential in the early screening of lung
            cancer.
REFERENCE   3  (residues 1 to 670)
  AUTHORS   Hu S, Sun Z, Li B, Zhao H, Wang Y, Yao G, Li X, Bian X, Li TC,
            Vankelecom H and Sun Y.
  TITLE     iTRAQ-based Proteomic Analysis Unveils ACSL4 as a Novel Potential
            Regulator of Human Endometrial Receptivity
  JOURNAL   Endocrinology 164 (3) (2023)
   PUBMED   36652382
  REMARK    GeneRIF: iTRAQ-based Proteomic Analysis Unveils ACSL4 as a Novel
            Potential Regulator of Human Endometrial Receptivity.
REFERENCE   4  (residues 1 to 670)
  AUTHORS   Liu L and Kang XX.
  TITLE     ACSL4 is overexpressed in psoriasis and enhances inflammatory
            responses by activating ferroptosis
  JOURNAL   Biochem Biophys Res Commun 623, 1-8 (2022)
   PUBMED   35868067
  REMARK    GeneRIF: ACSL4 is overexpressed in psoriasis and enhances
            inflammatory responses by activating ferroptosis.
REFERENCE   5  (residues 1 to 670)
  AUTHORS   Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard MP,
            Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B,
            Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE and Renieri A.
  TITLE     FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific
            X-linked mental retardation
  JOURNAL   Nat Genet 30 (4), 436-440 (2002)
   PUBMED   11889465
  REMARK    GeneRIF: FACL4, encoding fatty acid-CoA ligase 4, is mutated in
            nonspecific X-linked mental retardation
REFERENCE   6  (residues 1 to 670)
  AUTHORS   Cao Y, Traer E, Zimmerman GA, McIntyre TM and Prescott SM.
  TITLE     Cloning, expression, and chromosomal localization of human
            long-chain fatty acid-CoA ligase 4 (FACL4)
  JOURNAL   Genomics 49 (2), 327-330 (1998)
   PUBMED   9598324
REFERENCE   7  (residues 1 to 670)
  AUTHORS   Jonsson JJ, Renieri A, Gallagher PG, Kashtan CE, Cherniske EM,
            Bruttini M, Piccini M, Vitelli F, Ballabio A and Pober BR.
  TITLE     Alport syndrome, mental retardation, midface hypoplasia, and
            elliptocytosis: a new X linked contiguous gene deletion syndrome?
  JOURNAL   J Med Genet 35 (4), 273-278 (1998)
   PUBMED   9598718
REFERENCE   8  (residues 1 to 670)
  AUTHORS   Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova
            M, Zollo M, Borsani G, Ballabio A and Renieri A.
  TITLE     FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is
            deleted in a family with Alport syndrome, elliptocytosis, and
            mental retardation
  JOURNAL   Genomics 47 (3), 350-358 (1998)
   PUBMED   9480748
REFERENCE   9  (residues 1 to 670)
  AUTHORS   Lehner R and Kuksis A.
  TITLE     Biosynthesis of triacylglycerols
  JOURNAL   Prog Lipid Res 35 (2), 169-201 (1996)
   PUBMED   8944226
  REMARK    Review article
REFERENCE   10 (residues 1 to 670)
  AUTHORS   Knights KM and Jones ME.
  TITLE     Inhibition kinetics of hepatic microsomal long chain fatty acid-CoA
            ligase by 2-arylpropionic acid non-steroidal anti-inflammatory
            drugs
  JOURNAL   Biochem Pharmacol 43 (7), 1465-1471 (1992)
   PUBMED   1567471
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DR004263.1, BC034959.2,
            AF030555.1, CN310691.1 and BQ016115.1.
            
            Summary: The protein encoded by this gene is an isozyme of the
            long-chain fatty-acid-coenzyme A ligase family. Although differing
            in substrate specificity, subcellular localization, and tissue
            distribution, all isozymes of this family convert free long-chain
            fatty acids into fatty acyl-CoA esters, and thereby play a key role
            in lipid biosynthesis and fatty acid degradation. This isozyme
            preferentially utilizes arachidonate as substrate. The absence of
            this enzyme may contribute to the cognitive disability or Alport
            syndrome. Alternative splicing of this gene generates multiple
            transcript variants. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) encodes isoform 1. Variants 1
            and 4 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF030555.1, BC034959.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..670
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     Protein         1..670
                     /product="long-chain-fatty-acid--CoA ligase 4 isoform 1"
                     /EC_number="6.2.1.3"
                     /EC_number="6.2.1.15"
                     /note="fatty-acid-Coenzyme A ligase, long-chain 4;
                     lignoceroyl-CoA synthase; long-chain-fatty-acid--CoA
                     ligase 4; acyl-CoA synthetase 4; long-chain acyl-CoA
                     synthetase 4; long-chain fatty-acid-Coenzyme A ligase 4;
                     arachidonate--CoA ligase"
                     /calculated_mol_wt=74305
     Region          80..655
                     /region_name="LC_FACS_euk1"
                     /note="Eukaryotic long-chain fatty acid CoA synthetase
                     (LC-FACS), including fungal proteins; cd17639"
                     /db_xref="CDD:341294"
     Site            order(234,237..242,244..245)
                     /site_type="other"
                     /note="acyl-activating enzyme (AAE) consensus motif"
                     /db_xref="CDD:341294"
     Site            order(237,362..363,423..428,514,526,529,541,647)
                     /site_type="other"
                     /note="putative AMP binding site [chemical binding]"
                     /db_xref="CDD:341294"
     Site            order(237,278..279,333,335..336,339,362..363,423..428,514,
                     526,529,538..541,624)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:341294"
     Site            order(278,335..336,339,362,538..540,622,624)
                     /site_type="other"
                     /note="putative CoA binding site [chemical binding]"
                     /db_xref="CDD:341294"
     CDS             1..670
                     /gene="ACSL4"
                     /gene_synonym="ACS4; FACL4; LACS4; MRX63; MRX68; XLID63"
                     /coded_by="NM_004458.3:182..2194"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS14549.1"
                     /db_xref="GeneID:2182"
                     /db_xref="HGNC:HGNC:3571"
                     /db_xref="MIM:300157"
ORIGIN      
        1 makrikakpt sdkpgspyrs vthfdslavi dipgadtldk lfdhavskfg kkdslgtrei
       61 lseenemqpn gkvfkklilg nykwmnylev nrrvnnfgsg ltalglkpkn tiaifcetra
      121 ewmiaaqtcf kynfplvtly atlgkeavvh glneseasyl itsvellesk lktalldisc
      181 vkhiiyvdnk ainkaeypeg feihsmqsve elgsnpenlg ippsrptpsd maivmytsgs
      241 tgrpkgvmmh hsnliagmtg qceripglgp kdtyigylpl ahvleltaei scftygcrig
      301 ysspltlsdq sskikkgskg dctvlkptlm aavpeimdri yknvmskvqe mnyiqktlfk
      361 igydykleqi kkgydaplcn lllfkkvkal lggnvrmmls ggaplspqth rfmnvcfccp
      421 igqgygltes cgagtvtevt dyttgrvgap licceiklkd wqeggytind kpnprgeivi
      481 ggqnismgyf kneektaedy svdengqrwf ctgdigefhp dgclqiidrk kdlvklqage
      541 yvslgkveaa lkncplidni cafaksdqsy visfvvpnqk rltllaqqkg vegtwvdicn
      601 npameaeilk eireaanamk lerfeipikv rlspepwtpe tglvtdafkl krkelrnhyl
      661 kdiermyggk
//
LOCUS       NP_001372133            1257 aa            linear   PRI 03-APR-2023
DEFINITION  non-receptor tyrosine-protein kinase TYK2 isoform 1 [Homo sapiens].
ACCESSION   NP_001372133
VERSION     NP_001372133.1
DBSOURCE    REFSEQ: accession NM_001385204.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1257)
  AUTHORS   Zabihi Rizi F, Ghorbani A, Zahtab P, Darbaghshahi NN, Ataee N,
            Pourhamzeh P, Hamzei B, Dolatabadi NF, Zamani A and Hooshmand M.
  TITLE     TYK2 single-nucleotide variants associated with the severity of
            COVID-19 disease
  JOURNAL   Arch Virol 168 (4), 119 (2023)
   PUBMED   36959416
  REMARK    GeneRIF: TYK2 single-nucleotide variants associated with the
            severity of COVID-19 disease.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1257)
  AUTHORS   Rusinol L and Puig L.
  TITLE     Tyk2 Targeting in Immune-Mediated Inflammatory Diseases
  JOURNAL   Int J Mol Sci 24 (4), 3391 (2023)
   PUBMED   36834806
  REMARK    GeneRIF: Tyk2 Targeting in Immune-Mediated Inflammatory Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1257)
  AUTHORS   Loo WJ, Turchin I, Prajapati VH, Gooderham MJ, Grewal P, Hong CH,
            Sauder M, Vender RB, Maari C and Papp KA.
  TITLE     Clinical Implications of Targeting the JAK-STAT Pathway in
            Psoriatic Disease: Emphasis on the TYK2 Pathway
  JOURNAL   J Cutan Med Surg 27 (1_suppl), 3S-24S (2023)
   PUBMED   36519621
  REMARK    GeneRIF: Clinical Implications of Targeting the JAK-STAT Pathway in
            Psoriatic Disease: Emphasis on the TYK2 Pathway.
            Review article
REFERENCE   4  (residues 1 to 1257)
  AUTHORS   Dieter C, de Almeida Brondani L, Lemos NE, Schaeffer AF, Zanotto C,
            Ramos DT, Girardi E, Pellenz FM, Camargo JL, Moresco KS, da Silva
            LL, Aubin MR, de Oliveira MS, Rech TH, Canani LH, Gerchman F,
            Leitao CB and Crispim D.
  TITLE     Polymorphisms in ACE1, TMPRSS2, IFIH1, IFNAR2, and TYK2 Genes Are
            Associated with Worse Clinical Outcomes in COVID-19
  JOURNAL   Genes (Basel) 14 (1), 29 (2022)
   PUBMED   36672770
  REMARK    GeneRIF: Polymorphisms in ACE1, TMPRSS2, IFIH1, IFNAR2, and TYK2
            Genes Are Associated with Worse Clinical Outcomes in COVID-19.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1257)
  AUTHORS   Chandra V, Ibrahim H, Halliez C, Prasad RB, Vecchio F, Dwivedi OP,
            Kvist J, Balboa D, Saarimaki-Vire J, Montaser H, Barsby T,
            Lithovius V, Artner I, Gopalakrishnan S, Groop L, Mallone R,
            Eizirik DL and Otonkoski T.
  TITLE     The type 1 diabetes gene TYK2 regulates beta-cell development and
            its responses to interferon-alpha
  JOURNAL   Nat Commun 13 (1), 6363 (2022)
   PUBMED   36289205
  REMARK    GeneRIF: The type 1 diabetes gene TYK2 regulates beta-cell
            development and its responses to interferon-alpha.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1257)
  AUTHORS   Shuai K, Horvath CM, Huang LH, Qureshi SA, Cowburn D and Darnell JE
            Jr.
  TITLE     Interferon activation of the transcription factor Stat91 involves
            dimerization through SH2-phosphotyrosyl peptide interactions
  JOURNAL   Cell 76 (5), 821-828 (1994)
   PUBMED   7510216
REFERENCE   7  (residues 1 to 1257)
  AUTHORS   Velazquez L, Fellous M, Stark GR and Pellegrini S.
  TITLE     A protein tyrosine kinase in the interferon alpha/beta signaling
            pathway
  JOURNAL   Cell 70 (2), 313-322 (1992)
   PUBMED   1386289
REFERENCE   8  (residues 1 to 1257)
  AUTHORS   Partanen J, Makela TP, Alitalo R, Lehvaslaiho H and Alitalo K.
  TITLE     Putative tyrosine kinases expressed in K-562 human leukemia cells
  JOURNAL   Proc Natl Acad Sci U S A 87 (22), 8913-8917 (1990)
   PUBMED   2247464
REFERENCE   9  (residues 1 to 1257)
  AUTHORS   Firmbach-Kraft I, Byers M, Shows T, Dalla-Favera R and Krolewski
            JJ.
  TITLE     tyk2, prototype of a novel class of non-receptor tyrosine kinase
            genes
  JOURNAL   Oncogene 5 (9), 1329-1336 (1990)
   PUBMED   2216457
REFERENCE   10 (residues 1 to 1257)
  AUTHORS   Krolewski JJ, Lee R, Eddy R, Shows TB and Dalla-Favera R.
  TITLE     Identification and chromosomal mapping of new human tyrosine kinase
            genes
  JOURNAL   Oncogene 5 (3), 277-282 (1990)
   PUBMED   2156206
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011557.7.
            
            Summary: This gene encodes a member of the tyrosine kinase and,
            more specifically, the Janus kinases (JAKs) protein families. This
            protein associates with the cytoplasmic domain of type I and type
            II cytokine receptors and promulgate cytokine signals by
            phosphorylating receptor subunits. It is also a component of both
            the type I and type III interferon signaling pathways. As such, it
            may play a role in anti-viral immunity. A mutation in this gene has
            been associated with Immunodeficiency 35. [provided by RefSeq, Sep
            2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in immune response or antiviral
                                   activity
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1257
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     Protein         1..1257
                     /product="non-receptor tyrosine-protein kinase TYK2
                     isoform 1"
                     /EC_number="2.7.10.2"
                     /note="non-receptor tyrosine-protein kinase TYK2"
                     /calculated_mol_wt=140640
     Region          28..125
                     /region_name="FERM_F1"
                     /note="FERM F1 ubiquitin-like domain; pfam18379"
                     /db_xref="CDD:436452"
     Region          143..266
                     /region_name="FERM_F2"
                     /note="FERM F2 acyl-CoA binding protein-like domain;
                     pfam18377"
                     /db_xref="CDD:436450"
     Region          285..432
                     /region_name="Jak1_Phl"
                     /note="Jak1 pleckstrin homology-like domain; pfam17887"
                     /db_xref="CDD:436118"
     Site            292
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P29597.3)"
     Region          335..366
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P29597.3)"
     Region          437..534
                     /region_name="SH2"
                     /note="Src homology 2 (SH2) domain; cl15255"
                     /db_xref="CDD:449520"
     Site            order(457,474,504,506)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198173"
     Site            499
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P29597.3)"
     Site            order(505,532)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198173"
     Site            525
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R117; propagated from
                     UniProtKB/Swiss-Prot (P29597.3)"
     Region          589..937
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(595..598,601,603,640,642,671,687..690,734,738..739,
                     741,758..759)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     Site            604
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q9R117; propagated from
                     UniProtKB/Swiss-Prot (P29597.3)"
     Region          610..629
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P29597.3)"
     Region          962..1244
                     /region_name="PTKc_Tyk2_rpt2"
                     /note="Catalytic (repeat 2) domain of the Protein Tyrosine
                     Kinase, Tyrosine kinase 2; cd05080"
                     /db_xref="CDD:270664"
     Site            order(973..974,976,981,998,1000,1030,1048..1052,1054,1093,
                     1097..1098,1100,1110..1111,1130..1134,1143,1191)
                     /site_type="active"
                     /db_xref="CDD:270664"
     Site            order(973..974,976,981,998,1000,1030,1048..1052,1054,
                     1097..1098,1100,1110..1111)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270664"
     Site            order(1093,1097,1130..1134,1143,1191)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270664"
     Site            1110..1136
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270664"
     CDS             1..1257
                     /gene="TYK2"
                     /gene_synonym="IMD35; JTK1"
                     /coded_by="NM_001385204.1:379..4152"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="GeneID:7297"
                     /db_xref="HGNC:HGNC:12440"
                     /db_xref="MIM:176941"
ORIGIN      
        1 mplrhwgmar gskpvgdgaq pmaamgglkv llhwagpggg epwvtfsess ltaeevcihi
       61 ahkvgitppc fnlfalfdaq aqvwlppnhi leiprdaslm lyfrirfyfr nwhgmnprep
      121 avyrcgppgt eassdqtaqg mqlldpasfe ylfeqgkhef vndvaslwel steeeihhfk
      181 neslgmaflh lchlalrhgi pleevakkts fkdciprsfr rhirqhsalt rlrlrnvfrr
      241 flrdfqpgrl sqqmvmvkyl atlerlaprf gtervpvchl rllaqaegep cyirdsgvap
      301 tdpgpesaag ppthevlvtg tggiqwwpve eevnkeegss gssgrnpqas lfgkkakahk
      361 avgqpadrpr eplwayfcdf rdithvvlke hcvsihrqdn kclelslpsr aaalsfvslv
      421 dgyfrltads shylchevap prlvmsirdg ihgpllepfv qaklrpedgl ylihwstshp
      481 yrliltvaqr sqapdgmqsl rlrkfpieqq dgafvlegwg rsfpsvrelg aalqgcllra
      541 gddcfslrrc clpqpgetsn liimrgaras prtlnlsqls fhrvdqkeit qlshlgqgtr
      601 tnvyegrlrv egsgdpeegk mddedplvpg rdrgqelrvv lkvldpshhd ialafyetas
      661 lmsqvshthl afvhgvcvrg penimvteyv ehgpldvwlr rerghvpmaw kmvvaqqlas
      721 alsylenknl vhgnvcgrni llarlglaeg tspfiklsdp gvglgalsre erveripwla
      781 peclpggans lstamdkwgf gatlleicfd geaplqsrsp sevclgdpwa lpavgapprn
      841 pedriraqsc ipsglvtssl sglpaggpla gaqcspslfr slwkslvpgt qkkehfyqrq
      901 hrlpepscpq latltsqclt yeptqrpsfr tilrdltrlq phnladvltv npdspasdpt
      961 vfhkrylkki rdlgeghfgk vslycydptn dgtgemvavk alkadcgpqh rsgwkqeidi
     1021 lrtlyhehii kykgccedqg ekslqlvmey vplgslrdyl prhsiglaql llfaqqiceg
     1081 maylhaqhyi hrdlaarnvl ldndrlvkig dfglakavpe gheyyrvred gdspvfwyap
     1141 eclkeykfyy asdvwsfgvt lyellthcds sqspptkfle ligiaqgqmt vlrlteller
     1201 gerlprpdkc pcevyhlmkn cweteasfrp tfenlipilk tvhekyqgqa psvfsvc
//
LOCUS       NP_112552                463 aa            linear   PRI 10-APR-2023
DEFINITION  heterogeneous nuclear ribonucleoprotein K isoform b [Homo sapiens].
ACCESSION   NP_112552
VERSION     NP_112552.1
DBSOURCE    REFSEQ: accession NM_031262.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 463)
  AUTHORS   Li D, Guo J and Jia R.
  TITLE     Epigenetic Control of Cancer Cell Proliferation and Cell Cycle
            Progression by HNRNPK via Promoting Exon 4 Inclusion of Histone
            Code Reader SPIN1
  JOURNAL   J Mol Biol 435 (6), 167993 (2023)
   PUBMED   36736887
  REMARK    GeneRIF: Epigenetic Control of Cancer Cell Proliferation and Cell
            Cycle Progression by HNRNPK via Promoting Exon 4 Inclusion of
            Histone Code Reader SPIN1.
REFERENCE   2  (residues 1 to 463)
  AUTHORS   Li Y, Zhao H, Li N, Yuan C, Dong N, Wen J, Li Z, Wang Q, Wang L and
            Mao H.
  TITLE     BBOX1-AS1 mediates trophoblast cells dysfunction via regulating
            hnRNPK/GADD45A axisdagger
  JOURNAL   Biol Reprod 108 (3), 408-422 (2023)
   PUBMED   36617174
  REMARK    GeneRIF: BBOX1-AS1 mediates trophoblast cells dysfunction via
            regulating hnRNPK/GADD45A axisdagger.
REFERENCE   3  (residues 1 to 463)
  AUTHORS   Yokoi S, Ito T, Sahashi K, Nakatochi M, Nakamura R, Tohnai G,
            Fujioka Y, Ishigaki S, Udagawa T, Izumi Y, Morita M, Kano O, Oda M,
            Sone T, Okano H, Atsuta N, Katsuno M, Okada Y and Sobue G.
  TITLE     The SYNGAP1 3'UTR Variant in ALS Patients Causes Aberrant SYNGAP1
            Splicing and Dendritic Spine Loss by Recruiting HNRNPK
  JOURNAL   J Neurosci 42 (47), 8881-8896 (2022)
   PUBMED   36261283
  REMARK    GeneRIF: The SYNGAP1 3'UTR Variant in ALS Patients Causes Aberrant
            SYNGAP1 Splicing and Dendritic Spine Loss by Recruiting HNRNPK.
REFERENCE   4  (residues 1 to 463)
  AUTHORS   Mucha B, Qie S, Bajpai S, Tarallo V, Diehl JN, Tedeschi F, Zhou G,
            Gao Z, Flashner S, Klein-Szanto AJ, Hibshoosh H, Masataka S,
            Chajewski OS, Majsterek I, Pytel D, Hatzoglou M, Der CJ, Nakagawa
            H, Bass AJ, Wong KK, Fuchs SY, Rustgi AK, Jankowsky E and Diehl JA.
  TITLE     Tumor suppressor mediated ubiquitylation of hnRNPK is a barrier to
            oncogenic translation
  JOURNAL   Nat Commun 13 (1), 6614 (2022)
   PUBMED   36329064
  REMARK    GeneRIF: Tumor suppressor mediated ubiquitylation of hnRNPK is a
            barrier to oncogenic translation.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 463)
  AUTHORS   Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson
            HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB,
            Castiglioni C, Breckpot J, Devriendt K, Stewart H, Banos-Pinero B,
            Mehta S, Sandford R, Dunn C, Mathevet R, van Maldergem L, Piard J,
            Brischoux-Boucher E, Vitobello A, Faivre L, Bournez M, Tran-Mau F,
            Maystadt I, Fernandez-Jaen A, Alvarez S, Garcia-Prieto ID, Alkuraya
            FS, Alsaif HS, Rahbeeni Z, El-Akouri K, Al-Mureikhi M, Spillmann
            RC, Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O,
            Evrony GD, Kraatari-Tiri M, Dudding-Byth T, Richardson A, Hunt D,
            Hamilton L, Dyack S, Mendelsohn BA, Rodriguez N, Sanchez-Martinez
            R, Tenorio-Castano J, Nevado J, Lapunzina P, Tirado P, Carminho
            Amaro Rodrigues MT, Quteineh L, Innes AM, Kline AD, Au PYB and
            Weksberg R.
  TITLE     An HNRNPK-specific DNA methylation signature makes sense of
            missense variants and expands the phenotypic spectrum of Au-Kline
            syndrome
  JOURNAL   Am J Hum Genet 109 (10), 1867-1884 (2022)
   PUBMED   36130591
  REMARK    GeneRIF: An HNRNPK-specific DNA methylation signature makes sense
            of missense variants and expands the phenotypic spectrum of
            Au-Kline syndrome.
REFERENCE   6  (residues 1 to 463)
  AUTHORS   Bustelo XR, Suen KL, Michael WM, Dreyfuss G and Barbacid M.
  TITLE     Association of the vav proto-oncogene product with
            poly(rC)-specific RNA-binding proteins
  JOURNAL   Mol Cell Biol 15 (3), 1324-1332 (1995)
   PUBMED   7862126
REFERENCE   7  (residues 1 to 463)
  AUTHORS   Hobert O, Jallal B, Schlessinger J and Ullrich A.
  TITLE     Novel signaling pathway suggested by SH3 domain-mediated
            p95vav/heterogeneous ribonucleoprotein K interaction
  JOURNAL   J Biol Chem 269 (32), 20225-20228 (1994)
   PUBMED   8051112
REFERENCE   8  (residues 1 to 463)
  AUTHORS   Weng Z, Thomas SM, Rickles RJ, Taylor JA, Brauer AW, Seidel-Dugan
            C, Michael WM, Dreyfuss G and Brugge JS.
  TITLE     Identification of Src, Fyn, and Lyn SH3-binding proteins:
            implications for a function of SH3 domains
  JOURNAL   Mol Cell Biol 14 (7), 4509-4521 (1994)
   PUBMED   7516469
REFERENCE   9  (residues 1 to 463)
  AUTHORS   Au,P.Y.B., Innes,A.M. and Kline,A.D.
  TITLE     Au-Kline Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30998304
REFERENCE   10 (residues 1 to 463)
  AUTHORS   Matunis MJ, Michael WM and Dreyfuss G.
  TITLE     Characterization and primary structure of the poly(C)-binding
            heterogeneous nuclear ribonucleoprotein complex K protein
  JOURNAL   Mol Cell Biol 12 (1), 164-171 (1992)
   PUBMED   1729596
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC428989.1, BC014980.1,
            AB209562.1 and BU736090.1.
            
            Summary: This gene belongs to the subfamily of ubiquitously
            expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The
            hnRNPs are RNA binding proteins and they complex with heterogeneous
            nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs
            in the nucleus and appear to influence pre-mRNA processing and
            other aspects of mRNA metabolism and transport. While all of the
            hnRNPs are present in the nucleus, some seem to shuttle between the
            nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic
            acid binding properties. The protein encoded by this gene is
            located in the nucleoplasm and has three repeats of KH domains that
            binds to RNAs. It is distinct among other hnRNP proteins in its
            binding preference; it binds tenaciously to poly(C). This protein
            is also thought to have a role during cell cycle progession.
            Several alternatively spliced transcript variants have been
            described for this gene, however, not all of them are fully
            characterized. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) uses an alternate acceptor
            splice site at the last coding exon compared to transcript variant
            1. This results in a frame-shift and an isoform (b) with a distinct
            C-terminus compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC014980.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..463
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.32"
     Protein         1..463
                     /product="heterogeneous nuclear ribonucleoprotein K
                     isoform b"
                     /note="transformation upregulated nuclear protein;
                     dC-stretch binding protein"
                     /calculated_mol_wt=50845
     Region          1..276
                     /region_name="Necessary for interaction with DDX1.
                     /evidence=ECO:0000269|PubMed:12183465"
                     /note="propagated from UniProtKB/Swiss-Prot (P61978.1)"
     Region          1..37
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P61978.1)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.10,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (P61978.1)"
     Region          4..43
                     /region_name="ROKNT"
                     /note="ROKNT (NUC014) domain; pfam08067"
                     /db_xref="CDD:429813"
     Site            34
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P61979; propagated from
                     UniProtKB/Swiss-Prot (P61978.1)"
     Region          35..197
                     /region_name="Interaction with ASFV p30"
                     /note="propagated from UniProtKB/Swiss-Prot (P61978.1)"
     Site            36
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P61978.1)"
     Site            39
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P61979; propagated from
                     UniProtKB/Swiss-Prot (P61978.1)"
     Region          42..105
                     /region_name="KH-I_HNRNPK_rpt1"
                     /note="first type I K homology (KH) RNA-binding domain
                     found in heterogeneous nuclear ribonucleoprotein K (hnRNP
                     K) and similar proteins; cd22432"
                     /db_xref="CDD:411860"
     Site            order(52,54..56,58..62,65..66,69..70,75..78)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:411860"
     Region          54..421
                     /region_name="2 X 22 AA approximate repeats"
                     /note="propagated from UniProtKB/Swiss-Prot (P61978.1)"
     Region          59..407
                     /region_name="5 X 4 AA repeats of G-X-G-G"
                     /note="propagated from UniProtKB/Swiss-Prot (P61978.1)"
     Site            75
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P61978.1)"
     Site            116
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P61978.1)"
     Region          144..213
                     /region_name="KH-I_HNRNPK_rpt2"
                     /note="second type I K homology (KH) RNA-binding domain
                     found in heterogeneous nuclear ribonucleoprotein K (hnRNP
                     K) and similar proteins; cd22433"
                     /db_xref="CDD:411861"
     Site            order(154,156..158,160..164,167..168,171..172,177..180)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:411861"
     Site            198
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P61979; propagated from
                     UniProtKB/Swiss-Prot (P61978.1)"
     Region          209..337
                     /region_name="Interaction with ZIK1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P61978.1)"
     Site            214
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P61978.1)"
     Site            216
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P61978.1)"
     Region          236..273
                     /region_name="RNA-binding RGG-box"
                     /note="propagated from UniProtKB/Swiss-Prot (P61978.1)"
     Region          245..329
                     /region_name="2 X 6 AA approximate repeats"
                     /note="propagated from UniProtKB/Swiss-Prot (P61978.1)"
     Region          250..329
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P61978.1)"
     Site            284
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16564677,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P61978.1)"
     Site            316
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P61978.1)"
     Site            377
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P61979; propagated from
                     UniProtKB/Swiss-Prot (P61978.1)"
     Site            379
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P61978.1)"
     Site            380
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P61978.1)"
     Region          387..460
                     /region_name="KH-I_HNRNPK_rpt3"
                     /note="third type I K homology (KH) RNA-binding domain
                     found in heterogeneous nuclear ribonucleoprotein K (hnRNP
                     K) and similar proteins; cd22434"
                     /db_xref="CDD:411862"
     Site            order(400..401,403..407,410..411,414,422..423,425,433,
                     458..459)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411862"
     Site            405
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P61979; propagated from
                     UniProtKB/Swiss-Prot (P61978.1)"
     Site            420
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P61978.1)"
     CDS             1..463
                     /gene="HNRNPK"
                     /gene_synonym="AUKS; CSBP; HNRPK; TUNP"
                     /coded_by="NM_031262.4:221..1612"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS6667.1"
                     /db_xref="GeneID:3190"
                     /db_xref="HGNC:HGNC:5044"
                     /db_xref="MIM:600712"
ORIGIN      
        1 meteqpeetf pntetngefg krpaedmeee qafkrsrntd emvelrillq sknagavigk
       61 ggknikalrt dynasvsvpd ssgperilsi sadietigei lkkiiptlee glqlpsptat
      121 sqlplesdav eclnyqhykg sdfdcelrll ihqslaggii gvkgakikel rentqttikl
      181 fqeccphstd rvvliggkpd rvvecikiil dlisespikg raqpydpnfy detydyggft
      241 mmfddrrgrp vgfpmrgrgg fdrmppgrgg rpmppsrrdy ddmsprrgpp ppppgrggrg
      301 gsrarnlplp ppppprggdl maydrrgrpg drydgmvgfs adetwdsaid twspsewqma
      361 yepqggsgyd ysyaggrgsy gdlggpiitt qvtipkdlag siigkggqri kqirhesgas
      421 ikideplegs edriititgt qdqiqnaqyl lqnsvkqysg kff
//
LOCUS       NP_001393538            1149 aa            linear   PRI 10-APR-2023
DEFINITION  hamartin isoform 8 [Homo sapiens].
ACCESSION   NP_001393538 XP_047279793
VERSION     NP_001393538.1
DBSOURCE    REFSEQ: accession NM_001406609.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1149)
  AUTHORS   Trpkov K.
  TITLE     TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a
            Heterogeneous Clinicopathologic Spectrum : Several Distinct
            Entities or a Tumor Family?
  JOURNAL   Am J Surg Pathol 47 (4), 518-519 (2023)
   PUBMED   36727758
  REMARK    GeneRIF: TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a
            Heterogeneous Clinicopathologic Spectrum : Several Distinct
            Entities or a Tumor Family?
REFERENCE   2  (residues 1 to 1149)
  AUTHORS   Tjota MY, Sharma A, Wanjari P, Fitzpatrick C, Segal J and Antic T.
  TITLE     TSC/MTOR mutated renal cell carcinoma with leiomyomatous stroma is
            a distinct entity: a comprehensive study of 12 cases
  JOURNAL   Hum Pathol 134, 124-133 (2023)
   PUBMED   36592877
  REMARK    GeneRIF: TSC/MTOR mutated renal cell carcinoma with leiomyomatous
            stroma is a distinct entity: a comprehensive study of 12 cases.
            Review article
REFERENCE   3  (residues 1 to 1149)
  AUTHORS   Ryu S, Kang HC, Lee SC, Byeon SH, Kim SS and Lee CS.
  TITLE     Refractive Errors, Retinal Findings, and Genotype of Tuberous
            Sclerosis Complex: A Retrospective Cohort Study
  JOURNAL   Yonsei Med J 64 (2), 133-138 (2023)
   PUBMED   36719021
  REMARK    GeneRIF: Refractive Errors, Retinal Findings, and Genotype of
            Tuberous Sclerosis Complex: A Retrospective Cohort Study.
REFERENCE   4  (residues 1 to 1149)
  AUTHORS   Huang J and Manning BD.
  TITLE     The TSC1-TSC2 complex: a molecular switchboard controlling cell
            growth
  JOURNAL   Biochem J 412 (2), 179-190 (2008)
   PUBMED   18466115
  REMARK    Review article
REFERENCE   5  (residues 1 to 1149)
  AUTHORS   Huang J, Dibble CC, Matsuzaki M and Manning BD.
  TITLE     The TSC1-TSC2 complex is required for proper activation of mTOR
            complex 2
  JOURNAL   Mol Cell Biol 28 (12), 4104-4115 (2008)
   PUBMED   18411301
  REMARK    GeneRIF: the TSC1-TSC2 complex inhibits mTORC1 and activates
            mTORC2, which through different mechanisms promotes Akt activation
REFERENCE   6  (residues 1 to 1149)
  AUTHORS   Plank TL, Yeung RS and Henske EP.
  TITLE     Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene,
            interacts with tuberin and appears to be localized to cytoplasmic
            vesicles
  JOURNAL   Cancer Res 58 (21), 4766-4770 (1998)
   PUBMED   9809973
REFERENCE   7  (residues 1 to 1149)
  AUTHORS   van Slegtenhorst M, Nellist M, Nagelkerken B, Cheadle J, Snell R,
            van den Ouweland A, Reuser A, Sampson J, Halley D and van der
            Sluijs P.
  TITLE     Interaction between hamartin and tuberin, the TSC1 and TSC2 gene
            products
  JOURNAL   Hum Mol Genet 7 (6), 1053-1057 (1998)
   PUBMED   9580671
REFERENCE   8  (residues 1 to 1149)
  AUTHORS   Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA,
            Krawczak M, Sampson JR and Cheadle JP.
  TITLE     Molecular genetic and phenotypic analysis reveals differences
            between TSC1 and TSC2 associated familial and sporadic tuberous
            sclerosis
  JOURNAL   Hum Mol Genet 6 (12), 2155-2161 (1997)
   PUBMED   9328481
REFERENCE   9  (residues 1 to 1149)
  AUTHORS   van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B,
            Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J,
            Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R,
            Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC,
            Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer
            F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR,
            Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S and
            Kwiatkowski DJ.
  TITLE     Identification of the tuberous sclerosis gene TSC1 on chromosome
            9q34
  JOURNAL   Science 277 (5327), 805-808 (1997)
   PUBMED   9242607
REFERENCE   10 (residues 1 to 1149)
  AUTHORS   Northrup,H., Koenig,M.K., Pearson,D.A. and Au,K.S.
  TITLE     Tuberous Sclerosis Complex
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301399
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL445645.10.
            On May 18, 2022 this sequence version replaced XP_047279793.1.
            
            Summary: This gene is a tumor suppressor gene that encodes the
            growth inhibitory protein hamartin. The encoded protein interacts
            with and stabilizes the GTPase activating protein tuberin. This
            hamartin-tuberin complex negatively regulates mammalian target of
            rapamycin complex 1 (mTORC1) signaling which is a major regulator
            of anabolic cell growth. This protein also functions as a
            co-chaperone for Hsp90 that inhibits its ATPase activity. This
            protein functions as a facilitator of Hsp90-mediated folding of
            kinase and non-kinase clients, including TSC2 and thereby
            preventing their ubiquitination and proteasomal degradation.
            Mutations in this gene have been associated with tuberous sclerosis
            and lymphangioleiomyomatosis. [provided by RefSeq, May 2022].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2922382.1,
                                           SRR18074967.4051220.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1149
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13"
     Protein         1..1149
                     /product="hamartin isoform 8"
                     /note="hamartin; tuberous sclerosis 1 protein"
                     /calculated_mol_wt=127998
     Region          7..718
                     /region_name="Hamartin"
                     /note="Hamartin protein; pfam04388"
                     /db_xref="CDD:427915"
     Region          402..786
                     /region_name="Mediates interaction with WDR45B.
                     /evidence=ECO:0000269|PubMed:28561066"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92574.2)"
     Region          438..570
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92574.2)"
     Site            486
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92574.2)"
     Site            504
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15963462,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92574.2)"
     Site            510
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q92574.2)"
     Site            520
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92574.2)"
     Site            597
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q92574.2)"
     Region          704..>956
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          991..1070
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92574.2)"
     Site            1085
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92574.2)"
     Region          1116..1149
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92574.2)"
     CDS             1..1149
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /coded_by="NM_001406609.1:189..3638"
                     /note="isoform 8 is encoded by transcript variant 23"
                     /db_xref="GeneID:7248"
                     /db_xref="HGNC:HGNC:12362"
                     /db_xref="MIM:605284"
ORIGIN      
        1 maqqanvgel lamldspmlg vrddvtavfk enlnsdrgpm lvntlvdyyl etssqpalhi
       61 lttlqephdk hlldrineyv gkaatrlsil sllghvirlq pswkhklsqa pllpsllkcl
      121 kmdtdvvvlt tgvlvlitml pmipqsgkqh lldffdifgr lsswclkkpg hvaevylvhl
      181 hasvyalfhr lygmypcnfv sflrshysmk enletfeevv kpmmehvrih pelvtgskdh
      241 eldprrwkrl ethdvvieca kisldpteas yedgysvshq isarfphrsa dvttspyadt
      301 qnsygcatst pystsrlmll nmpgqlpqtl sspstrlite ppqatlwsps mvcgmttppt
      361 spgnvppdls hpyskvfgtt ggkgtplgtp atspppaplc hsddyvhisl pqatvtpprk
      421 eermdsarpc lhrqhhllnd rgseeppgsk gsvtlsdlpg flgdlaseed siekdkeeaa
      481 isrelseitt aeaepvvprg gfdspfyrds lpgsqrkths aasssqgasv npeplhssld
      541 klgpdtpkqa ftpidlpcgs adespagdre cqtsletsif tpspckippp trvgfgsgqp
      601 ppydhlfeva lpktahhfvi rkteellkka kgnteedgvp stspmevldr liqqgadahs
      661 kelnklplps ksvdwthfgg sppsdeirtl rdqllllhnq llyerfkrqq halrnrrllr
      721 kvikaaalee hnaamkdqlk lqekdiqmwk vslqkeqary nqlqeqrdtm vtklhsqirq
      781 lqhdreefyn qsqelqtkle dcrnmiaelr ielkkannkl snsesvqqqm eflnrqllvl
      841 gevnelyleq lqnkhsdttk evemmkaayr keleknrshv lqqtqrldts qkrilelesh
      901 lakkdhllle qkkyledvkl qargqlqaae sryeaqkrit qvfeleildl ygrlekdgll
      961 kkleeekaea aeaaeerldc cndgcsdsmv ghneeasghn getktprpss argssgsrgg
     1021 ggssssssel stpekpphqr agpfssrwet tmgeasasip ttvgslpssk sflgmkarel
     1081 frnksesqcd edgmtsslse slktelgkdl gveakiplnl dgphpspptp dsvgqlhimd
     1141 ynethhehs
//
LOCUS       NP_001316834             231 aa            linear   PRI 17-APR-2023
DEFINITION  pigment epithelium-derived factor isoform 2 [Homo sapiens].
ACCESSION   NP_001316834
VERSION     NP_001316834.1
DBSOURCE    REFSEQ: accession NM_001329905.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 231)
  AUTHORS   Song L, Huo X, Li X, Xu X, Zheng Y, Li D, Zhang J, Wang K, Wang L
            and Wu Z.
  TITLE     SERPINF1 Mediates Tumor Progression and Stemness in Glioma
  JOURNAL   Genes (Basel) 14 (3), 580 (2023)
   PUBMED   36980858
  REMARK    GeneRIF: SERPINF1 Mediates Tumor Progression and Stemness in
            Glioma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 231)
  AUTHORS   Brook N, Gill J, Chih H, Francis K, Dharmarajan A, Chan A and Dass
            CR.
  TITLE     Pigment epithelium-derived factor downregulation in oestrogen
            receptor positive breast cancer bone metastases is associated with
            menopause
  JOURNAL   Mol Cell Endocrinol 559, 111792 (2023)
   PUBMED   36309204
  REMARK    GeneRIF: Pigment epithelium-derived factor downregulation in
            oestrogen receptor positive breast cancer bone metastases is
            associated with menopause.
REFERENCE   3  (residues 1 to 231)
  AUTHORS   Brook N, Gill J, Dharmarajan A, Chan A and Dass CR.
  TITLE     NFkappaB-Mediated Mechanisms Drive PEDF Expression and Function in
            Pre- and Post-Menopausal Oestrogen Levels in Breast Cancer
  JOURNAL   Int J Mol Sci 23 (24), 15641 (2022)
   PUBMED   36555293
  REMARK    GeneRIF: NFkappaB-Mediated Mechanisms Drive PEDF Expression and
            Function in Pre- and Post-Menopausal Oestrogen Levels in Breast
            Cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 231)
  AUTHORS   Nemerovsky L, Bar-Joseph H, Eldar-Boock A, Tarabeih R, Elmechaly C,
            Ben-Ami I and Shalgi R.
  TITLE     The Role of PEDF in Reproductive Aging of the Ovary
  JOURNAL   Int J Mol Sci 23 (18), 10359 (2022)
   PUBMED   36142276
  REMARK    GeneRIF: The Role of PEDF in Reproductive Aging of the Ovary.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 231)
  AUTHORS   Ziff JL, Crompton M, Powell HR, Lavy JA, Aldren CP, Steel KP, Saeed
            SR and Dawson SJ.
  TITLE     Mutations and altered expression of SERPINF1 in patients with
            familial otosclerosis
  JOURNAL   Hum Mol Genet 25 (12), 2393-2403 (2016)
   PUBMED   27056980
  REMARK    GeneRIF: Six rare heterozygous SERPINF1 variants were found in
            seven patients in our familial otosclerosis cohort; three are
            missense mutations predicted to be deleterious to protein function
REFERENCE   6  (residues 1 to 231)
  AUTHORS   Shaheen R, Alazami AM, Alshammari MJ, Faqeih E, Alhashmi N, Mousa
            N, Alsinani A, Ansari S, Alzahrani F, Al-Owain M, Alzayed ZS and
            Alkuraya FS.
  TITLE     Study of autosomal recessive osteogenesis imperfecta in Arabia
            reveals a novel locus defined by TMEM38B mutation
  JOURNAL   J Med Genet 49 (10), 630-635 (2012)
   PUBMED   23054245
REFERENCE   7  (residues 1 to 231)
  AUTHORS   Becerra SP, Sagasti A, Spinella P and Notario V.
  TITLE     Pigment epithelium-derived factor behaves like a noninhibitory
            serpin. Neurotrophic activity does not require the serpin reactive
            loop
  JOURNAL   J Biol Chem 270 (43), 25992-25999 (1995)
   PUBMED   7592790
REFERENCE   8  (residues 1 to 231)
  AUTHORS   Tombran-Tink J, Pawar H, Swaroop A, Rodriguez I and Chader GJ.
  TITLE     Localization of the gene for pigment epithelium-derived factor
            (PEDF) to chromosome 17p13.1 and expression in cultured human
            retinoblastoma cells
  JOURNAL   Genomics 19 (2), 266-272 (1994)
   PUBMED   8188257
REFERENCE   9  (residues 1 to 231)
  AUTHORS   Becerra SP, Palmer I, Kumar A, Steele F, Shiloach J, Notario V and
            Chader GJ.
  TITLE     Overexpression of fetal human pigment epithelium-derived factor in
            Escherichia coli. A functionally active neurotrophic factor
  JOURNAL   J Biol Chem 268 (31), 23148-23156 (1993)
   PUBMED   8226833
REFERENCE   10 (residues 1 to 231)
  AUTHORS   Steele FR, Chader GJ, Johnson LV and Tombran-Tink J.
  TITLE     Pigment epithelium-derived factor: neurotrophic activity and
            identification as a member of the serine protease inhibitor gene
            family
  JOURNAL   Proc Natl Acad Sci U S A 90 (4), 1526-1530 (1993)
   PUBMED   8434014
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC130689.8.
            
            Summary: This gene encodes a member of the serpin family that does
            not display the serine protease inhibitory activity shown by many
            of the other serpin proteins. The encoded protein is secreted and
            strongly inhibits angiogenesis. In addition, this protein is a
            neurotrophic factor involved in neuronal differentiation in
            retinoblastoma cells. Mutations in this gene were found in
            individuals with osteogenesis imperfecta, type VI. [provided by
            RefSeq, Aug 2016].
            
            Transcript Variant: This variant (4, also known as 012) lacks a
            portion of the 5' UTR and 5' coding region, and initiates
            translation at a downstream start codon, compared to variant 1. The
            encoded isoform (2) has a shorter N-terminus than isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AA662175.1, AA927539.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..231
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     Protein         1..231
                     /product="pigment epithelium-derived factor isoform 2"
                     /note="pigment epithelium-derived factor; serine (or
                     cysteine) proteinase inhibitor, clade F (alpha-2
                     antiplasmin, pigment epithelium derived factor), member 1;
                     serpin peptidase inhibitor, clade F (alpha-2 antiplasmin,
                     pigment epithelium derived factor), member 1; testis
                     tissue sperm-binding protein Li 70n; cell
                     proliferation-inducing gene 35 protein"
                     /calculated_mol_wt=25847
     Region          <1..226
                     /region_name="serpin"
                     /note="SERine Proteinase INhibitors (serpin) family;
                     cl38926"
                     /db_xref="CDD:453891"
     Site            order(181..191,206)
                     /site_type="other"
                     /note="reactive center loop (RCL)"
                     /db_xref="CDD:381000"
     CDS             1..231
                     /gene="SERPINF1"
                     /gene_synonym="EPC-1; OI12; OI6; PEDF; PIG35"
                     /coded_by="NM_001329905.2:289..984"
                     /note="isoform 2 is encoded by transcript variant 4"
                     /db_xref="GeneID:5176"
                     /db_xref="HGNC:HGNC:8824"
                     /db_xref="MIM:172860"
ORIGIN      
        1 mkgklarstk eipdeisill lgvahfkgqw vtkfdsrkts ledfyldeer tvrvpmmsdp
       61 kavlryglds dlsckiaqlp ltgsmsiiff lplkvtqnlt lieesltsef ihdidrelkt
      121 vqavltvpkl klsyegevtk slqemklqsl fdspdfskit gkpikltqve hragfewned
      181 gagttpspgl qpahltfpld yhlnqpfifv lrdtdtgall figkildprg p
//
LOCUS       NP_039252                241 aa            linear   PRI 17-APR-2023
DEFINITION  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta3 [Homo
            sapiens].
ACCESSION   NP_039252 NP_039255
VERSION     NP_039252.2
DBSOURCE    REFSEQ: accession NM_013958.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 241)
  AUTHORS   Lemmetyinen TT, Viitala EW, Wartiovaara L, Kaprio T, Hagstrom J,
            Haglund C, Katajisto P, Wang TC, Domenech-Moreno E and Ollila S.
  TITLE     Fibroblast-derived EGF ligand neuregulin 1 induces fetal-like
            reprogramming of the intestinal epithelium without supporting
            tumorigenic growth
  JOURNAL   Dis Model Mech 16 (4) (2023)
   PUBMED   36912192
  REMARK    GeneRIF: Fibroblast-derived EGF ligand neuregulin 1 induces
            fetal-like reprogramming of the intestinal epithelium without
            supporting tumorigenic growth.
REFERENCE   2  (residues 1 to 241)
  AUTHORS   Chambliss C, Stiles JK and Gee BE.
  TITLE     Neuregulin-1 attenuates hemolysis- and ischemia
            induced-cerebrovascular inflammation associated with sickle cell
            disease
  JOURNAL   J Stroke Cerebrovasc Dis 32 (2), 106912 (2023)
   PUBMED   36473396
  REMARK    GeneRIF: Neuregulin-1 attenuates hemolysis- and ischemia
            induced-cerebrovascular inflammation associated with sickle cell
            disease.
REFERENCE   3  (residues 1 to 241)
  AUTHORS   Liu X, Bates R, Yin DM, Shen C, Wang F, Su N, Kirov SA, Luo Y, Wang
            JZ, Xiong WC and Mei L.
  TITLE     Specific regulation of NRG1 isoform expression by neuronal activity
  JOURNAL   J Neurosci 31 (23), 8491-8501 (2011)
   PUBMED   21653853
  REMARK    GeneRIF: each of the six types of NRG1 has a distinct expression
            pattern in the brain at different ages, resulting in a change in
            NRG1 isoform composition. Also, the expression of each NRG1 isoform
            is distinctly regulated by neuronal activity.
REFERENCE   4  (residues 1 to 241)
  AUTHORS   Shamir A and Buonanno A.
  TITLE     Molecular and cellular characterization of Neuregulin-1 type IV
            isoforms
  JOURNAL   J Neurochem 113 (5), 1163-1176 (2010)
   PUBMED   20218976
  REMARK    GeneRIF: NRG1 type IV expression levels can selectively modify
            signaling of NRG1 released from somato-dendritic compartments, in
            contrast to the type III NRG1 that is also associated with axons
REFERENCE   5  (residues 1 to 241)
  AUTHORS   Tan W, Wang Y, Gold B, Chen J, Dean M, Harrison PJ, Weinberger DR
            and Law AJ.
  TITLE     Molecular cloning of a brain-specific, developmentally regulated
            neuregulin 1 (NRG1) isoform and identification of a functional
            promoter variant associated with schizophrenia
  JOURNAL   J Biol Chem 282 (33), 24343-24351 (2007)
   PUBMED   17565985
  REMARK    GeneRIF: type IV is a unique brain-specific NRG1 that is
            differentially expressed and processed during early development, is
            translated, and its expression regulated by a schizophrenia
            risk-associated functional promoter or single nucleotide
            polymorphism
REFERENCE   6  (residues 1 to 241)
  AUTHORS   Steinthorsdottir V, Stefansson H, Ghosh S, Birgisdottir B,
            Bjornsdottir S, Fasquel AC, Olafsson O, Stefansson K and Gulcher
            JR.
  TITLE     Multiple novel transcription initiation sites for NRG1
  JOURNAL   Gene 342 (1), 97-105 (2004)
   PUBMED   15527969
  REMARK    GeneRIF: NRG1, with nine potential promoter, plays a central role
            in neural development and is most likely involved in regulation of
            synaptic plasticity, or how the brain responds or adapts to the
            environment.
REFERENCE   7  (residues 1 to 241)
  AUTHORS   Wang JY, Miller SJ and Falls DL.
  TITLE     The N-terminal region of neuregulin isoforms determines the
            accumulation of cell surface and released neuregulin ectodomain
  JOURNAL   J Biol Chem 276 (4), 2841-2851 (2001)
   PUBMED   11042203
REFERENCE   8  (residues 1 to 241)
  AUTHORS   Marchionni MA, Goodearl AD, Chen MS, Bermingham-McDonogh O, Kirk C,
            Hendricks M, Danehy F, Misumi D, Sudhalter J, Kobayashi K et al.
  TITLE     Glial growth factors are alternatively spliced erbB2 ligands
            expressed in the nervous system
  JOURNAL   Nature 362 (6418), 312-318 (1993)
   PUBMED   8096067
REFERENCE   9  (residues 1 to 241)
  AUTHORS   Holmes WE, Sliwkowski MX, Akita RW, Henzel WJ, Lee J, Park JW,
            Yansura D, Abadi N, Raab H, Lewis GD et al.
  TITLE     Identification of heregulin, a specific activator of p185erbB2
  JOURNAL   Science 256 (5060), 1205-1210 (1992)
   PUBMED   1350381
REFERENCE   10 (residues 1 to 241)
  AUTHORS   Peles E, Bacus SS, Koski RA, Lu HS, Wen D, Ogden SG, Levy RB and
            Yarden Y.
  TITLE     Isolation of the neu/HER-2 stimulatory ligand: a 44 kd glycoprotein
            that induces differentiation of mammary tumor cells
  JOURNAL   Cell 69 (1), 205-216 (1992)
   PUBMED   1348215
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK298132.1, AK097005.1,
            M94168.1 and M94165.1.
            On or before May 13, 2009 this sequence version replaced
            NP_039255.1, NP_039252.1.
            
            Summary: The protein encoded by this gene is a membrane
            glycoprotein that mediates cell-cell signaling and plays a critical
            role in the growth and development of multiple organ systems. An
            extraordinary variety of different isoforms are produced from this
            gene through alternative promoter usage and splicing. These
            isoforms are expressed in a tissue-specific manner and differ
            significantly in their structure, and are classified as types I,
            II, III, IV, V and VI. Dysregulation of this gene has been linked
            to diseases such as cancer, schizophrenia, and bipolar disorder
            (BPD). [provided by RefSeq, Apr 2016].
            
            Transcript Variant: This variant (HRG-beta3), which uses the type I
            promoter, lacks multiple 3' exons but contains an alternate 3'
            terminal exon that results in an early stop codon, compared to
            variant HRG-beta1. The resulting isoform (HRG-beta3, also known as
            GGF or GGFHFB1) is shorter at the C-terminus, compared to isoform
            HRG-beta1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC006492.2, M94168.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..241
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p12"
     Protein         1..241
                     /product="pro-neuregulin-1, membrane-bound isoform isoform
                     HRG-beta3"
                     /note="heregulin, alpha (45kD, ERBB2 p185-activator); neu
                     differentiation factor; sensory and motor neuron derived
                     factor; pro-NRG1; glial growth factor 2; acetylcholine
                     receptor-inducing activity; NRG1 class VII isoform beta 3;
                     NRG1 class VII isoform alpha beta 3; NRG1 class VII
                     isoform beta 2a; NRG1 class VII isoform alpha 2a; NRG1
                     class VII isoform alpha 2b; NRG1 class VII isoform alpha
                     beta 2a"
                     /calculated_mol_wt=26012
     Region          37..129
                     /region_name="Ig_Pro_neuregulin-1"
                     /note="Immunoglobulin (Ig)-like domain found in neuregulin
                     (NRG)-1; cd05895"
                     /db_xref="CDD:409476"
     Region          37..43
                     /region_name="putative Ig strand A"
                     /note="putative Ig strand A [structural motif]"
                     /db_xref="CDD:409476"
     Region          51..59
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409476"
     Region          66..71
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409476"
     Region          85..90
                     /region_name="putative Ig strand D"
                     /note="putative Ig strand D [structural motif]"
                     /db_xref="CDD:409476"
     Region          95..99
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409476"
     Region          109..114
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409476"
     Region          121..129
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409476"
     Region          190..220
                     /region_name="EGF"
                     /note="EGF-like domain; pfam00008"
                     /db_xref="CDD:394967"
     CDS             1..241
                     /gene="NRG1"
                     /gene_synonym="ARIA; GGF; GGF2; HGL; HRG; HRG1; HRGA;
                     MST131; MSTP131; NDF; NRG1-IT2; SMDF"
                     /coded_by="NM_013958.4:417..1142"
                     /note="isoform HRG-beta3 is encoded by transcript variant
                     HRG-beta3"
                     /db_xref="CCDS:CCDS94274.1"
                     /db_xref="GeneID:3084"
                     /db_xref="HGNC:HGNC:7997"
                     /db_xref="MIM:142445"
ORIGIN      
        1 mserkegrgk gkgkkkergs gkkpesaags qspalpprlk emksqesaag sklvlrcets
       61 seysslrfkw fkngnelnrk nkpqnikiqk kpgkselrin kasladsgey mckvisklgn
      121 dsasanitiv esneiitgmp astegayvss espirisvst egantsssts tsttgtshlv
      181 kcaekektfc vnggecfmvk dlsnpsrylc kcpneftgdr cqnyvmasfy ststpflslp
      241 e
//
LOCUS       NP_945347                415 aa            linear   PRI 29-OCT-2022
DEFINITION  lipase member I isoform 5 [Homo sapiens].
ACCESSION   NP_945347 XP_351375
VERSION     NP_945347.3
DBSOURCE    REFSEQ: accession NM_198996.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 415)
  AUTHORS   Willier S, Butt E and Grunewald TG.
  TITLE     Lysophosphatidic acid (LPA) signalling in cell migration and cancer
            invasion: a focussed review and analysis of LPA receptor gene
            expression on the basis of more than 1700 cancer microarrays
  JOURNAL   Biol Cell 105 (8), 317-333 (2013)
   PUBMED   23611148
  REMARK    Review article
REFERENCE   2  (residues 1 to 415)
  AUTHORS   Schmiedel BJ, Hutter C, Hesse M and Staege MS.
  TITLE     Expression of multiple membrane-associated phospholipase A1 beta
            transcript variants and lysophosphatidic acid receptors in Ewing
            tumor cells
  JOURNAL   Mol Biol Rep 38 (7), 4619-4628 (2011)
   PUBMED   21132378
  REMARK    GeneRIF: Different LIPI transcript variants present in Ewing family
            tumors (EFT) might be involved in the pathogenesis of EFT by
            signaling via these LPA receptors.
REFERENCE   3  (residues 1 to 415)
  AUTHORS   Foell JL, Hesse M, Volkmer I, Schmiedel BJ, Neumann I and Staege
            MS.
  TITLE     Membrane-associated phospholipase A1 beta (LIPI) Is an Ewing
            tumour-associated cancer/testis antigen
  JOURNAL   Pediatr Blood Cancer 51 (2), 228-234 (2008)
   PUBMED   18435455
REFERENCE   4  (residues 1 to 415)
  AUTHORS   Hiramatsu T, Sonoda H, Takanezawa Y, Morikawa R, Ishida M, Kasahara
            K, Sanai Y, Taguchi R, Aoki J and Arai H.
  TITLE     Biochemical and molecular characterization of two phosphatidic
            acid-selective phospholipase A1s, mPA-PLA1alpha and mPA-PLA1beta
  JOURNAL   J Biol Chem 278 (49), 49438-49447 (2003)
   PUBMED   12963729
REFERENCE   5  (residues 1 to 415)
  AUTHORS   Wen XY, Hegele RA, Wang J, Wang DY, Cheung J, Wilson M, Yahyapour
            M, Bai Y, Zhuang L, Skaug J, Young TK, Connelly PW, Koop BF, Tsui
            LC and Stewart AK.
  TITLE     Identification of a novel lipase gene mutated in lpd mice with
            hypertriglyceridemia and associated with dyslipidemia in humans
  JOURNAL   Hum Mol Genet 12 (10), 1131-1143 (2003)
   PUBMED   12719377
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF130358.2, AL078615.2,
            AP001347.1 and KC877770.1.
            On Apr 9, 2020 this sequence version replaced NP_945347.2.
            
            Summary: The protein encoded by this gene is a phospholipase that
            hydrolyzes phosphatidic acid to produce lysophosphatidic acid.
            Defects in this gene are a cause of susceptibility to familial
            hypertrigliceridemia. This gene is also expressed at high levels in
            Ewing family tumor cells. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Dec 2014].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY197607.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2145240,
                                           SAMEA2159931 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..415
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q11.2"
     Protein         1..415
                     /product="lipase member I isoform 5"
                     /EC_number="2.7.11.30"
                     /note="cancer/testis antigen 17; LPD lipase;
                     membrane-associated phosphatidic acid-selective
                     phospholipase A1-beta; lipase, member I"
                     /calculated_mol_wt=47326
     Region          1..264
                     /region_name="Pancreat_lipase_like"
                     /note="Pancreatic lipase-like enzymes. Lipases are
                     esterases that can hydrolyze long-chain acyl-triglycerides
                     into di- and monoglycerides, glycerol, and free fatty
                     acids at a water/lipid interface. A typical feature of
                     lipases is 'interfacial activation,' the...; cd00707"
                     /db_xref="CDD:238363"
     Site            112..116
                     /site_type="active"
                     /note="nucleophilic elbow [active]"
                     /db_xref="CDD:238363"
     Site            order(114,138,208)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:238363"
     Site            order(193..194,205..206)
                     /site_type="active"
                     /note="active site flap/lid"
                     /db_xref="CDD:238363"
     CDS             1..415
                     /gene="LIPI"
                     /gene_synonym="CT17; LPDL; mPA-PLA1 beta; PLA1C; PRED5"
                     /coded_by="NM_198996.4:225..1472"
                     /note="isoform 5 is encoded by transcript variant 2"
                     /db_xref="GeneID:149998"
                     /db_xref="HGNC:HGNC:18821"
                     /db_xref="MIM:609252"
ORIGIN      
        1 mmytrnnlnc aeplfeqnns lnvnfntqkk tvwlihgyrp vgsiplwlqn fvrillneed
       61 mnvivvdwsr gattfiynra vkntrkvavs lsvhiknllk hgasldnfhf igvslgahis
      121 gfvgkifhgq lgritgldpa gprfsrkppy srldytdakf vdvihsdsng lgiqeplghi
      181 dfypnggnkq pgcpksifsg iqfikcnhqr avhlfmasle tncnfisfpc rsykdyktsl
      241 cvdcdcfkek scprlgyqak lfkgvlkerm egrplrttvf ldtsgtypfc tyyfvlsiiv
      301 pdktmmdgsf sfkllnqlgm ieeprlyekn kpfyklqevk ilaqfyndfv nissigltyf
      361 qssnlqcstc tykiqslmlk sltyperppl crynivlkdr eevflnpntc tpknt
//
LOCUS       NP_001229837             263 aa            linear   PRI 18-DEC-2022
DEFINITION  R-spondin-1 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001229837
VERSION     NP_001229837.1
DBSOURCE    REFSEQ: accession NM_001242908.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 263)
  AUTHORS   Dellambra E, Cordisco S, Delle Monache F, Bondanza S, Teson M,
            Nicodemi EM, Didona B, Condorelli AG, Camerino G, Castiglia D and
            Guerra L.
  TITLE     RSPO1-mutated keratinocytes from palmoplantar keratoderma display
            impaired differentiation, alteration of cell-cell adhesion,
            EMT-like phenotype and invasiveness properties: implications for
            squamous cell carcinoma susceptibility in patients with 46XX
            disorder of sexual development
  JOURNAL   Orphanet J Rare Dis 17 (1), 275 (2022)
   PUBMED   35854363
  REMARK    GeneRIF: RSPO1-mutated keratinocytes from palmoplantar keratoderma
            display impaired differentiation, alteration of cell-cell adhesion,
            EMT-like phenotype and invasiveness properties: implications for
            squamous cell carcinoma susceptibility in patients with 46XX
            disorder of sexual development.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 263)
  AUTHORS   Lee S, Jun J, Kim WJ, Tamayo P and Howell SB.
  TITLE     WNT Signaling Driven by R-spondin 1 and LGR6 in High-grade Serous
            Ovarian Cancer
  JOURNAL   Anticancer Res 40 (11), 6017-6028 (2020)
   PUBMED   33109540
  REMARK    GeneRIF: WNT Signaling Driven by R-spondin 1 and LGR6 in High-grade
            Serous Ovarian Cancer.
REFERENCE   3  (residues 1 to 263)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 263)
  AUTHORS   Lu SY, Tang SM, Li FF, Kam KW, Tam POS, Yip WWK, Young AL, Tham CC,
            Pang CP, Yam JC and Chen LJ.
  TITLE     Association of WNT7B and RSPO1 with Axial Length in School Children
  JOURNAL   Invest Ophthalmol Vis Sci 61 (10), 11 (2020)
   PUBMED   32761137
  REMARK    GeneRIF: Association of WNT7B and RSPO1 with Axial Length in School
            Children.
REFERENCE   5  (residues 1 to 263)
  AUTHORS   Liu Q, Zhao Y, Xing H, Li L, Li R, Dai J, Li Q and Fang S.
  TITLE     The role of R-spondin 1 through activating Wnt/beta-catenin in the
            growth, survival and migration of ovarian cancer cells
  JOURNAL   Gene 689, 124-130 (2019)
   PUBMED   30572097
  REMARK    GeneRIF: R-spondin 1 regulates ovarian cancer biological activities
            via activating Wnt/beta-catenin. This highlights the critical roles
            of R-spondin 1 in ovarian cancer progression and chemoresistance.
REFERENCE   6  (residues 1 to 263)
  AUTHORS   de Lau WB, Snel B and Clevers HC.
  TITLE     The R-spondin protein family
  JOURNAL   Genome Biol 13 (3), 242 (2012)
   PUBMED   22439850
  REMARK    Review article
REFERENCE   7  (residues 1 to 263)
  AUTHORS   Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, Valentini S,
            Guerra L, Schedl A and Camerino G.
  TITLE     R-spondin1 is essential in sex determination, skin differentiation
            and malignancy
  JOURNAL   Nat Genet 38 (11), 1304-1309 (2006)
   PUBMED   17041600
  REMARK    GeneRIF: Human R-spondin1 (RSPO1) is the gene disrupted in a
            recessive syndrome characterized by XX sex reversal, palmoplantar
            hyperkeratosis and predisposition to squamous cell carcinoma of the
            skin.
REFERENCE   8  (residues 1 to 263)
  AUTHORS   Abraham C and Cho JH.
  TITLE     Inducing intestinal growth
  JOURNAL   N Engl J Med 353 (21), 2297-2299 (2005)
   PUBMED   16306530
  REMARK    GeneRIF: Mice treated with R-spondin1 showed increased intestinal
            epithelial healing, providing a protective effect against
            chemotherapy-induced intestinal mucositis.
REFERENCE   9  (residues 1 to 263)
  AUTHORS   Kim KA, Kakitani M, Zhao J, Oshima T, Tang T, Binnerts M, Liu Y,
            Boyle B, Park E, Emtage P, Funk WD and Tomizuka K.
  TITLE     Mitogenic influence of human R-spondin1 on the intestinal
            epithelium
  JOURNAL   Science 309 (5738), 1256-1259 (2005)
   PUBMED   16109882
  REMARK    GeneRIF: identified a gene, R-spondin1, with potent and specific
            proliferative effects on intestinal crypt cells
REFERENCE   10 (residues 1 to 263)
  AUTHORS   Kamata T, Katsube K, Michikawa M, Yamada M, Takada S and Mizusawa
            H.
  TITLE     R-spondin, a novel gene with thrombospondin type 1 domain, was
            expressed in the dorsal neural tube and affected in Wnts mutants
  JOURNAL   Biochim Biophys Acta 1676 (1), 51-62 (2004)
   PUBMED   14732490
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB273983.1, DQ165084.1 and
            AL513220.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a secreted activator protein with two
            cysteine-rich, furin-like domains and one thrombospondin type 1
            domain. The encoded protein is a ligand for leucine-rich
            repeat-containing G-protein coupled receptors (LGR proteins) and
            positively regulates the Wnt signaling pathway. In mice, the
            protein induces the rapid onset of crypt cell proliferation and
            increases intestinal epithelial healing, providing a protective
            effect against chemotherapy-induced adverse effects. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Apr 2014].
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' UTR, compared to variant 1. Both variants 1 and 2 encode the
            same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ165084.1, SRR1803614.195878.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152719 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356545.7/ ENSP00000348944.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..263
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     Protein         1..263
                     /product="R-spondin-1 isoform 1 precursor"
                     /note="roof plate-specific spondin-1; R-spondin homolog"
                     /calculated_mol_wt=26765
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2213
     mat_peptide     21..263
                     /product="R-spondin-1. /id=PRO_0000234436"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2MKA7.1)"
                     /calculated_mol_wt=26765
     Region          34..85
                     /region_name="FU 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2MKA7.1)"
     Region          42..142
                     /region_name="Furin-like_2"
                     /note="Furin-like repeat, cysteine-rich; pfam15913"
                     /db_xref="CDD:435015"
     Region          91..135
                     /region_name="FU 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2MKA7.1)"
     Site            137
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q2MKA7.1)"
     Region          148..203
                     /region_name="TSP1_spondin"
                     /note="Spondin-like TSP1 domain; pfam19028"
                     /db_xref="CDD:436909"
     Region          206..263
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2MKA7.1)"
     CDS             1..263
                     /gene="RSPO1"
                     /gene_synonym="CRISTIN3; RSPO"
                     /coded_by="NM_001242908.2:683..1474"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS41304.1"
                     /db_xref="GeneID:284654"
                     /db_xref="HGNC:HGNC:21679"
                     /db_xref="MIM:609595"
ORIGIN      
        1 mrlglcvval vlswthltis srgikgkrqr risaegsqac akgcelcsev ngclkcspkl
       61 fillerndir qvgvclpscp pgyfdarnpd mnkcikckie hceacfshnf ctkckeglyl
      121 hkgrcypacp egssaangtm ecsspaqcem sewspwgpcs kkqqlcgfrr gseertrrvl
      181 hapvgdhaac sdtketrrct vrrvpcpegq krrkggqgrr enanrnlark eskeagagsr
      241 rrkgqqqqqq qgtvgpltsa gpa
//
LOCUS       NP_064517                376 aa            linear   PRI 18-DEC-2022
DEFINITION  1-acyl-sn-glycerol-3-phosphate acyltransferase gamma isoform 1
            [Homo sapiens].
ACCESSION   NP_064517 NP_113675
VERSION     NP_064517.1
DBSOURCE    REFSEQ: accession NM_020132.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 376)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 376)
  AUTHORS   Lemaitre RN, Tanaka T, Tang W, Manichaikul A, Foy M, Kabagambe EK,
            Nettleton JA, King IB, Weng LC, Bhattacharya S, Bandinelli S, Bis
            JC, Rich SS, Jacobs DR Jr, Cherubini A, McKnight B, Liang S, Gu X,
            Rice K, Laurie CC, Lumley T, Browning BL, Psaty BM, Chen YD,
            Friedlander Y, Djousse L, Wu JH, Siscovick DS, Uitterlinden AG,
            Arnett DK, Ferrucci L, Fornage M, Tsai MY, Mozaffarian D and
            Steffen LM.
  TITLE     Genetic loci associated with plasma phospholipid n-3 fatty acids: a
            meta-analysis of genome-wide association studies from the CHARGE
            Consortium
  JOURNAL   PLoS Genet 7 (7), e1002193 (2011)
   PUBMED   21829377
REFERENCE   3  (residues 1 to 376)
  AUTHORS   Prasad SS, Garg A and Agarwal AK.
  TITLE     Enzymatic activities of the human AGPAT isoform 3 and isoform 5:
            localization of AGPAT5 to mitochondria
  JOURNAL   J Lipid Res 52 (3), 451-462 (2011)
   PUBMED   21173190
  REMARK    GeneRIF: enzymatic properties, tissue distribution, and subcellular
            localization of human AGPAT3 and AGPAT5
REFERENCE   4  (residues 1 to 376)
  AUTHORS   Schmidt JA, Yvone GM and Brown WJ.
  TITLE     Membrane topology of human AGPAT3 (LPAAT3)
  JOURNAL   Biochem Biophys Res Commun 397 (4), 661-667 (2010)
   PUBMED   20537980
  REMARK    GeneRIF: The data is consistent with a structural arrangement in
            which motif I is located in the cytoplasm and motif II is in the
            endoplasmic reticulum and Golgi lumen, suggesting a different model
            for AGPAT3/LPAAT3's enzymatic mechanism.
REFERENCE   5  (residues 1 to 376)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   6  (residues 1 to 376)
  AUTHORS   Agarwal AK, Barnes RI and Garg A.
  TITLE     Functional characterization of human 1-acylglycerol-3-phosphate
            acyltransferase isoform 8: cloning, tissue distribution, gene
            structure, and enzymatic activity
  JOURNAL   Arch Biochem Biophys 449 (1-2), 64-76 (2006)
   PUBMED   16620771
  REMARK    GeneRIF: Of the two well conserved acyltransferase motifs, NHX(4)D
            is present in AGPAT8, whereas arginine in the EGTR motif is
            substituted by aspartate.
REFERENCE   7  (residues 1 to 376)
  AUTHORS   Lu B, Jiang YJ, Zhou Y, Xu FY, Hatch GM and Choy PC.
  TITLE     Cloning and characterization of murine 1-acyl-sn-glycerol
            3-phosphate acyltransferases and their regulation by PPARalpha in
            murine heart
  JOURNAL   Biochem J 385 (Pt 2), 469-477 (2005)
   PUBMED   15367102
REFERENCE   8  (residues 1 to 376)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   9  (residues 1 to 376)
  AUTHORS   Wistow G, Bernstein SL, Ray S, Wyatt MK, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human iris for the NEIBank
            Project: steroid-response factors and similarities with retinal
            pigment epithelium
  JOURNAL   Mol Vis 8, 185-195 (2002)
   PUBMED   12107412
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 376)
  AUTHORS   Leung DW.
  TITLE     The structure and functions of human lysophosphatidic acid
            acyltransferases
  JOURNAL   Front Biosci 6, D944-D953 (2001)
   PUBMED   11487472
  REMARK    Review article
            Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001053.1, CD672915.1,
            BC063552.1, AP001054.1 and AB001523.1.
            On Feb 16, 2003 this sequence version replaced NP_113675.2.
            
            Summary: The protein encoded by this gene is an acyltransferase
            that converts lysophosphatidic acid into phosphatidic acid, which
            is the second step in the de novo phospholipid biosynthetic
            pathway. The encoded protein may be an integral membrane protein.
            Two transcript variants encoding the same protein have been found
            for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 both encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.155937.1,
                                           SRR1803616.76462.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291572.13/ ENSP00000291572.8
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..376
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..376
                     /product="1-acyl-sn-glycerol-3-phosphate acyltransferase
                     gamma isoform 1"
                     /EC_number="2.3.1.51"
                     /note="1-acyl-sn-glycerol-3-phosphate acyltransferase
                     gamma; 1-AGP acyltransferase 3; lysophosphatidic acid
                     acyltransferase-gamma1; lysophosphatidic acid
                     acyltransferase gamma; lysophospholipid acyltransferase 3"
                     /calculated_mol_wt=43250
     Region          17..325
                     /region_name="PLN02380"
                     /note="1-acyl-sn-glycerol-3-phosphate acyltransferase"
                     /db_xref="CDD:178006"
     Region          96..101
                     /region_name="HXXXXD motif.
                     /evidence=ECO:0000250|UniProtKB:Q9D517"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRZ7.1)"
     Site            125..145
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRZ7.1)"
     Site            317..339
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRZ7.1)"
     CDS             1..376
                     /gene="AGPAT3"
                     /gene_synonym="1-AGPAT 3; LPAAT-GAMMA1; LPAAT3; LPLAT3"
                     /coded_by="NM_020132.5:235..1365"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13703.1"
                     /db_xref="GeneID:56894"
                     /db_xref="HGNC:HGNC:326"
                     /db_xref="MIM:614794"
ORIGIN      
        1 mgllaflktq fvlhllvgfv fvvsglvinf vqlctlalwp vskqlyrrln crlayslwsq
       61 lvmllewwsc tectlftdqa tverfgkeha viilnhnfei dflcgwtmce rfgvlgsskv
      121 lakkellyvp ligwtwyfle ivfckrkwee drdtvveglr rlsdypeymw fllycegtrf
      181 tetkhrvsme vaaakglpvl kyhllprtkg fttavkclrg tvaavydvtl nfrgnknpsl
      241 lgilygkkye admcvrrfpl edipldekea aqwlhklyqe kdalqeiynq kgmfpgeqfk
      301 parrpwtlln flswatills plfsfvlgvf asgspllilt flgfvgaasf gvrrligvte
      361 iekgssygnq efkkke
//
LOCUS       NP_001308237             567 aa            linear   PRI 18-DEC-2022
DEFINITION  C-type lectin domain family 4 member F isoform 3 [Homo sapiens].
ACCESSION   NP_001308237 XP_005264229
VERSION     NP_001308237.1
DBSOURCE    REFSEQ: accession NM_001321308.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 567)
  AUTHORS   Navarini AA, Simpson MA, Weale M, Knight J, Carlavan I, Reiniche P,
            Burden DA, Layton A, Bataille V, Allen M, Pleass R, Pink A, Creamer
            D, English J, Munn S, Walton S, Willis C, Deret S, Voegel JJ,
            Spector T, Smith CH, Trembath RC and Barker JN.
  CONSRTM   Acne Genetic Study Group
  TITLE     Genome-wide association study identifies three novel susceptibility
            loci for severe Acne vulgaris
  JOURNAL   Nat Commun 5, 4020 (2014)
   PUBMED   24927181
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 567)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   3  (residues 1 to 567)
  AUTHORS   Hoyle GW and Hill RL.
  TITLE     Structure of the gene for a carbohydrate-binding receptor unique to
            rat kupffer cells
  JOURNAL   J Biol Chem 266 (3), 1850-1857 (1991)
   PUBMED   1846367
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK096429.1, BC139723.1 and BU740367.1.
            On Mar 22, 2016 this sequence version replaced XP_005264229.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC139723.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151887, SAMEA2155751
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..567
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     Protein         1..567
                     /product="C-type lectin domain family 4 member F isoform
                     3"
                     /note="C-type (calcium dependent, carbohydrate-recognition
                     domain) lectin, superfamily member 13"
                     /calculated_mol_wt=63120
     Site            40..60
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N1N0.2)"
     Site            79
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N1N0.2)"
     Region          <97..>471
                     /region_name="CCDC158"
                     /note="Coiled-coil domain-containing protein 158;
                     pfam15921"
                     /db_xref="CDD:435022"
     Site            113
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N1N0.2)"
     Site            207
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N1N0.2)"
     Site            230
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N1N0.2)"
     Site            244
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N1N0.2)"
     Site            312
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N1N0.2)"
     Site            385
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N1N0.2)"
     Site            399
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N1N0.2)"
     Region          471..>547
                     /region_name="CLECT_DC-SIGN_like"
                     /note="C-type lectin-like domain (CTLD) of the type found
                     in human dendritic cell (DC)-specific intercellular
                     adhesion molecule 3-grabbing non-integrin (DC-SIGN) and
                     the related receptor, DC-SIGN receptor (DC-SIGNR);
                     cd03590"
                     /db_xref="CDD:153060"
     CDS             1..567
                     /gene="CLEC4F"
                     /gene_synonym="CLECSF13; KCLR; KCR"
                     /coded_by="NM_001321308.2:77..1780"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS82464.1"
                     /db_xref="GeneID:165530"
                     /db_xref="HGNC:HGNC:25357"
                     /db_xref="MIM:620105"
ORIGIN      
        1 mdgeavrfct dnqcvslhpq evdsvamapa apkiprlvqa tpafmavtlv fslvtlfvvv
       61 qqqtrpvpkp vqavilgdni tghlpfepnn hhhfgreaem reliqtfkgh menssawvve
      121 iqmlkcrvdn vnsqlqvlgd hlgntnadiq mvkgvlkdat tlslqtqmlr sslegtnaei
      181 qrlkedleka daltfqtlnf lksslentsi elhvlsrgle nanseiqmln asletantqa
      241 qlansslkna naeiyvlrgh ldsvndlrtq nqvlrnsleg anaeiqglke nlqntnalns
      301 qtqafikssf dntsaeiqfl rghleragde ihvlkrdlkm vtaqtqkang rldqtdtqiq
      361 vfksemenvn tlnaqiqvln ghmknasrei qtlkqgmkna saltsqtqml dsnlqkasae
      421 iqrlrgdlen tkaltmeiqq eqsrlktlhv vitsqeqlqr tqsqllqmvl qgwkfnggsl
      481 yyfssvkksw heaeqfcvsq gahlasvask eeqaflveft skvyywiglt drgtegswrw
      541 tdgtpfnaaq nkashstrkg cclhltv
//
LOCUS       NP_001026915             379 aa            linear   PRI 18-DEC-2022
DEFINITION  RIB43A-like with coiled-coils protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001026915
VERSION     NP_001026915.1
DBSOURCE    REFSEQ: accession NM_001031745.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 379)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 379)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 379)
  AUTHORS   Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum
            C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J,
            Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E,
            Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL,
            Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M,
            Mowat D, Field M, Hackett A, Marynen P, Turner G and Gecz J.
  TITLE     Submicroscopic duplications of the hydroxysteroid dehydrogenase
            HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with
            mental retardation
  JOURNAL   Am J Hum Genet 82 (2), 432-443 (2008)
   PUBMED   18252223
REFERENCE   4  (residues 1 to 379)
  AUTHORS   Sogayar MC, Camargo AA, Bettoni F, Carraro DM, Pires LC, Parmigiani
            RB, Ferreira EN, de Sa Moreira E, do Rosario D de O Latorre M,
            Simpson AJ, Cruz LO, Degaki TL, Festa F, Massirer KB, Sogayar MC,
            Filho FC, Camargo LP, Cunha MA, De Souza SJ, Faria M Jr, Giuliatti
            S, Kopp L, de Oliveira PS, Paiva PB, Pereira AA, Pinheiro DG, Puga
            RD, S de Souza JE, Albuquerque DM, Andrade LE, Baia GS, Briones MR,
            Cavaleiro-Luna AM, Cerutti JM, Costa FF, Costanzi-Strauss E,
            Espreafico EM, Ferrasi AC, Ferro ES, Fortes MA, Furchi JR,
            Giannella-Neto D, Goldman GH, Goldman MH, Gruber A, Guimaraes GS,
            Hackel C, Henrique-Silva F, Kimura ET, Leoni SG, Macedo C, Malnic
            B, Manzini B CV, Marie SK, Martinez-Rossi NM, Menossi M, Miracca
            EC, Nagai MA, Nobrega FG, Nobrega MP, Oba-Shinjo SM, Oliveira MK,
            Orabona GM, Otsuka AY, Paco-Larson ML, Paixao BM, Pandolfi JR,
            Pardini MI, Passos Bueno MR, Passos GA, Pesquero JB, Pessoa JG,
            Rahal P, Rainho CA, Reis CP, Ricca TI, Rodrigues V, Rogatto SR,
            Romano CM, Romeiro JG, Rossi A, Sa RG, Sales MM, Sant'Anna SC,
            Santarosa PL, Segato F, Silva WA Jr, Silva ID, Silva NP,
            Soares-Costa A, Sonati MF, Strauss BE, Tajara EH, Valentini SR,
            Villanova FE, Ward LS and Zanette DL.
  CONSRTM   Ludwig-FAPESP Transcript Finishing Initiative
  TITLE     A transcript finishing initiative for closing gaps in the human
            transcriptome
  JOURNAL   Genome Res 14 (7), 1413-1423 (2004)
   PUBMED   15197164
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK304179.1, BC036767.1, CA433728.1 and BF433577.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.161704.1,
                                           SRR5189667.145103.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375327.6/ ENSP00000364476.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..379
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.22"
     Protein         1..379
                     /product="RIB43A-like with coiled-coils protein 1 isoform
                     1"
                     /note="RIB43A-like with coiled-coils protein 1"
                     /calculated_mol_wt=43884
     Region          1..21
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N443.1)"
     Region          9..379
                     /region_name="RIB43A"
                     /note="pfam05914"
                     /db_xref="CDD:428671"
     CDS             1..379
                     /gene="RIBC1"
                     /gene_synonym="2610028I09Rik"
                     /coded_by="NM_001031745.5:222..1361"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS35299.1"
                     /db_xref="GeneID:158787"
                     /db_xref="HGNC:HGNC:26537"
ORIGIN      
        1 mynikqstdt keaaaiearr nrekerqnrf fnvrnrvmgv dvqalnnqvg drkrreaaer
       61 skeaaygtsq vqydvvvqml ekeeadrtrq lakkvqefre qkqqlkngre fslwdpgqvw
      121 kglptylsys ntypgpaslq yfsgedldrd trlrmqqgqf rynlerqqqe qqqakvdeny
      181 tdalsnqlrl amdaqathla rleescraam mcamananka qaavqagrqr cerqreqkan
      241 laeiqhqsts dlltenpqva qhpmapyrvl pycwkgmtpe qqaairkeqe vqrskkqahr
      301 qaektldtew ksqtmssaqa vleleeqere lcavfqrglg sfnqqlaneq kaqqdylnsv
      361 iytnqptaqy hqqfntssr
//
LOCUS       NP_055451                557 aa            linear   PRI 18-DEC-2022
DEFINITION  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 1
            [Homo sapiens].
ACCESSION   NP_055451
VERSION     NP_055451.1
DBSOURCE    REFSEQ: accession NM_014636.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 557)
  AUTHORS   Guo H, Wang S, Xie A, Sun W, Wei C, Xian S, Yin H, Li M, Sun H, Li
            H, Meng T, Zhang J and Huang Z.
  TITLE     Ral GEF with the PH Domain and SH3 Binding Motif 1 Regulated by
            Splicing Factor Junction Plakoglobin and Pyrimidine Metabolism Are
            Prognostic in Uterine Carcinosarcoma
  JOURNAL   Dis Markers 2021, 1484227 (2021)
   PUBMED   34745385
  REMARK    GeneRIF: Ral GEF with the PH Domain and SH3 Binding Motif 1
            Regulated by Splicing Factor Junction Plakoglobin and Pyrimidine
            Metabolism Are Prognostic in Uterine Carcinosarcoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 557)
  AUTHORS   Peng W, Xu J, Guan X, Sun Y, Zhang XC, Li X and Rao Z.
  TITLE     Structural study of the Cdc25 domain from Ral-specific
            guanine-nucleotide exchange factor RalGPS1a
  JOURNAL   Protein Cell 2 (4), 308-319 (2011)
   PUBMED   21494904
  REMARK    GeneRIF: The guanine-nucleotide exchange factor (GEF) RalGPS1a
            activates small GTPase Ral proteins such as RalA and RalB by
            stimulating the exchange of Ral bound GDP to GTP, thus regulating
            various downstream cellular processes.
REFERENCE   3  (residues 1 to 557)
  AUTHORS   Choy KW, Wang CC, Ogura A, Lau TK, Rogers MS, Ikeo K, Gojobori T,
            Lam DS and Pang CP.
  TITLE     Genomic annotation of 15,809 ESTs identified from pooled early
            gestation human eyes
  JOURNAL   Physiol Genomics 25 (1), 9-15 (2006)
   PUBMED   16368877
REFERENCE   4  (residues 1 to 557)
  AUTHORS   de Bruyn KM, de Rooij J, Wolthuis RM, Rehmann H, Wesenbeek J, Cool
            RH, Wittinghofer AH and Bos JL.
  TITLE     RalGEF2, a pleckstrin homology domain containing guanine nucleotide
            exchange factor for Ral
  JOURNAL   J Biol Chem 275 (38), 29761-29766 (2000)
   PUBMED   10889189
REFERENCE   5  (residues 1 to 557)
  AUTHORS   Rebhun JF, Chen H and Quilliam LA.
  TITLE     Identification and characterization of a new family of guanine
            nucleotide exchange factors for the ras-related GTPase Ral
  JOURNAL   J Biol Chem 275 (18), 13406-13410 (2000)
   PUBMED   10747847
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB002349.1 and CN266562.1.
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB002349.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465402, SAMN03465404
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259351.10/ ENSP00000259351.5
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..557
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3"
     Protein         1..557
                     /product="ras-specific guanine nucleotide-releasing factor
                     RalGPS1 isoform 1"
                     /note="Ral guanine nucleotide exchange factor RalGPS1A;
                     ras-specific guanine nucleotide-releasing factor RalGPS1;
                     ralA exchange factor RalGPS1; ral guanine nucleotide
                     exchange factor 2"
                     /calculated_mol_wt=62002
     Region          46..288
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases; smart00147"
                     /db_xref="CDD:214539"
     Site            order(79..81,91..92,94..96,98..99,102..103,106,139,
                     142..143,145..147,149..152,154..155,175,178,183..185,188,
                     202..204,207..209,211..213,215..218,235,239,277,280..281)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     Region          289..342
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JS13.1)"
     Region          330..333
                     /region_name="PXXP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JS13.1)"
     Region          372..412
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JS13.1)"
     Region          433..557
                     /region_name="Required for stimulation of nucleotide
                     exchange by RALA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JS13.1)"
     Region          433..548
                     /region_name="PH_RalGPS1_2"
                     /note="Ral GEF with PH domain and SH3 binding motif 1 and
                     2 Pleckstrin homology (PH) domain; cd13310"
                     /db_xref="CDD:270120"
     CDS             1..557
                     /gene="RALGPS1"
                     /gene_synonym="RALGEF2; RALGPS1A"
                     /coded_by="NM_014636.3:260..1933"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS35143.1"
                     /db_xref="GeneID:9649"
                     /db_xref="HGNC:HGNC:16851"
                     /db_xref="MIM:614444"
ORIGIN      
        1 mykrnglmas vlvtsatpqg ssssdslegq scdyasksyd avvfdvlkvt peefasqitl
       61 mdipvfkaiq peelascgws kkekhslapn vvaftrrfnq vsfwvvreil taqtlkirae
      121 ilshfvkiak kllelnnlhs lmsvvsalqs apifrltktw allnrkdktt fekldylmsk
      181 ednykrtrey irslkmvpsi pylgiylldl iyidsaypas gsimeneqrs nqmnnilrii
      241 adlqvscsyd hlttlphvqk ylksvryiee lqkfveddny klslriepgs ssprlvsske
      301 dlagpsagsg sarfsrrptc pdtsvagslp tppvprhrks hslgnnmmcq lsvvesksat
      361 fpsekarhll ddsvlesrsp rrglaltsss avtnglslgs sessefseem ssglesptgp
      421 cicslgnsaa vptmegplrr ktllkegrkp alsswtrywv ilsgstllyy gakslrgtdr
      481 khykstpgkk vsivgwmvql pddpehpdif qlnnpdkgnv ykfqtgsrfh ailwhkhldd
      541 acksnrpqvp anlmsfe
//
LOCUS       NP_001165088             638 aa            linear   PRI 21-DEC-2022
DEFINITION  prolyl endopeptidase-like isoform 4 [Homo sapiens].
ACCESSION   NP_001165088
VERSION     NP_001165088.1
DBSOURCE    REFSEQ: accession NM_001171617.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 638)
  AUTHORS   Shchagina O, Bessonova L, Bychkov I, Beskorovainaya T and Poliakov
            A.
  TITLE     A Family Case of Congenital Myasthenic Syndrome-22 Induced by
            Different Combinations of Molecular Causes in Siblings
  JOURNAL   Genes (Basel) 11 (7), 821 (2020)
   PUBMED   32707643
  REMARK    GeneRIF: A Family Case of Congenital Myasthenic Syndrome-22 Induced
            by Different Combinations of Molecular Causes in Siblings.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 638)
  AUTHORS   Silva S, Miyake N, Tapia C and Matsumoto N.
  TITLE     The second point mutation in PREPL: a case report and literature
            review
  JOURNAL   J Hum Genet 63 (5), 677-681 (2018)
   PUBMED   29483676
  REMARK    GeneRIF: we report the first homozygous PREPL point mutation in a
            girl with typical PREPL deficiency. This syndrome should be
            considered in the differential diagnosis of hypotonic neonates
            exhibiting myasthenic symptoms, hyperphagia, and various degrees of
            ID.
            Review article
REFERENCE   3  (residues 1 to 638)
  AUTHORS   Regal L, Martensson E, Maystadt I, Voermans N, Lederer D, Burlina
            A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T,
            Schouten M, Meulemans S, Jonson T, Francois I, Gil Ortega D,
            Kamsteeg EJ and Creemers JWM.
  TITLE     PREPL deficiency: delineation of the phenotype and development of a
            functional blood assay
  JOURNAL   Genet Med 20 (1), 109-118 (2018)
   PUBMED   28726805
REFERENCE   4  (residues 1 to 638)
  AUTHORS   Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET,
            Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK,
            Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS,
            Rensvold JW, Taylor RW, Prokisch H, Kim JP, Coon JJ and Pagliarini
            DJ.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   5  (residues 1 to 638)
  AUTHORS   Regal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW
            and Engel AG.
  TITLE     PREPL deficiency with or without cystinuria causes a novel
            myasthenic syndrome
  JOURNAL   Neurology 82 (14), 1254-1260 (2014)
   PUBMED   24610330
REFERENCE   6  (residues 1 to 638)
  AUTHORS   Parvari R, Gonen Y, Alshafee I, Buriakovsky S, Regev K and
            Hershkovitz E.
  TITLE     The 2p21 deletion syndrome: characterization of the transcription
            content
  JOURNAL   Genomics 86 (2), 195-211 (2005)
   PUBMED   15913950
REFERENCE   7  (residues 1 to 638)
  AUTHORS   Kim DK, Kanai Y, Choi HW, Tangtrongsup S, Chairoungdua A, Babu E,
            Tachampa K, Anzai N, Iribe Y and Endou H.
  TITLE     Characterization of the system L amino acid transporter in T24
            human bladder carcinoma cells
  JOURNAL   Biochim Biophys Acta 1565 (1), 112-121 (2002)
   PUBMED   12225859
  REMARK    GeneRIF: description of L-leucine transport into bladder carcinoma
            cells
REFERENCE   8  (residues 1 to 638)
  AUTHORS   Parvari R, Brodyansky I, Elpeleg O, Moses S, Landau D and
            Hershkovitz E.
  TITLE     A recessive contiguous gene deletion of chromosome 2p16 associated
            with cystinuria and a mitochondrial disease
  JOURNAL   Am J Hum Genet 69 (4), 869-875 (2001)
   PUBMED   11524703
REFERENCE   9  (residues 1 to 638)
  AUTHORS   Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and
            Morton CC.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
REFERENCE   10 (residues 1 to 638)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
            LJH, Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA410514.1, BG717492.1,
            DQ023505.1, BC151236.1, AC013717.8 and CA951923.1.
            
            Summary: The protein encoded by this gene belongs to the prolyl
            oligopeptidase subfamily of serine peptidases. Mutations in this
            gene have been associated with hypotonia-cystinuria syndrome, also
            known as the 2p21 deletion syndrome. Several alternatively spliced
            transcript variants encoding either the same or different isoforms
            have been described for this gene.[provided by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (7, also known as variant B)
            contains an alternate exon at the 5' end compared to variant 1,
            resulting in translation initiation from an in-frame downstream AUG
            and a shorter isoform (4) compared to isoform 1. Variants 6 and 7
            encode the same isoform.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.101548.1,
                                           SRR1803616.261517.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..638
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     Protein         1..638
                     /product="prolyl endopeptidase-like isoform 4"
                     /EC_number="3.4.21.-"
                     /note="putative prolyl oligopeptidase"
                     /calculated_mol_wt=73221
     Region          24..574
                     /region_name="PtrB"
                     /note="Protease II [Amino acid transport and metabolism];
                     COG1770"
                     /db_xref="CDD:224684"
     CDS             1..638
                     /gene="PREPL"
                     /gene_synonym="CMS22"
                     /coded_by="NM_001171617.1:388..2304"
                     /note="isoform 4 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS54353.1"
                     /db_xref="GeneID:9581"
                     /db_xref="HGNC:HGNC:30228"
                     /db_xref="MIM:609557"
ORIGIN      
        1 mdafekvrtk letqpqeeye iinvevkhgg fvyyqegccl vrskdeeadn dnyevlfnle
       61 elkldqpfid cirvapdeky vaakirteds eastcviikl sdqpvmeasf pnvssfewvk
      121 deededvlfy tfqrnlrchd vyratfgdnk rnerfytekd psyfvflylt kdsrfltini
      181 mnkttsevwl idglspwdpp vliqkrihgv lyyvehrdde lyiltnvgep tefklmrtaa
      241 dtpaimnwdl fftmkrntkv idldmfkdhc vlflkhsnll yvnvigladd svrslklppw
      301 acgfimdtns dpkncpfqlc spirppkyyt ykfaegklfe etghedpitk tsrvlrleak
      361 skdgklvpmt vfhktdsedl qkkpllvhvy gaygmdlkmn frperrvlvd dgwilaychv
      421 rgggelglqw hadgrltkkl ngladleaci ktlhgqgfsq pslttltafs aggvlagalc
      481 nsnpelvrav tleapfldvl ntmmdttlpl tleeleewgn pssdekhkny ikrycpyqni
      541 kpqhypsihi tayendervp lkgivsytek lkeaiaehak dtgegyqtpn iildiqpggn
      601 hviedshkki taqikflyee lgldstsvfe dlkkylkf
//
LOCUS       NP_001155973            1833 aa            linear   PRI 24-DEC-2022
DEFINITION  trinucleotide repeat-containing gene 6B protein isoform 1 [Homo
            sapiens].
ACCESSION   NP_001155973
VERSION     NP_001155973.1
DBSOURCE    REFSEQ: accession NM_001162501.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1833)
  AUTHORS   Johnson ST, Chu Y, Liu J and Corey DR.
  TITLE     Impact of scaffolding protein TNRC6 paralogs on gene expression and
            splicing
  JOURNAL   RNA 27 (9), 1004-1016 (2021)
   PUBMED   34108231
  REMARK    GeneRIF: Impact of scaffolding protein TNRC6 paralogs on gene
            expression and splicing.
REFERENCE   2  (residues 1 to 1833)
  AUTHORS   Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K,
            Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M,
            Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang
            Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet
            C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R,
            Kvarnung M, Wang X, Bi W, Rosenfeld JA and Shinawi M.
  TITLE     Pathogenic variants in TNRC6B cause a genetic disorder
            characterised by developmental delay/intellectual disability and a
            spectrum of neurobehavioural phenotypes including autism and ADHD
  JOURNAL   J Med Genet 57 (10), 717-724 (2020)
   PUBMED   32152250
  REMARK    GeneRIF: Pathogenic variants in TNRC6B cause a genetic disorder
            characterised by developmental delay/intellectual disability and a
            spectrum of neurobehavioural phenotypes including autism and ADHD.
REFERENCE   3  (residues 1 to 1833)
  AUTHORS   Chen C, Jiang L, Zhang Y and Zheng W.
  TITLE     FOXA1-induced LINC01207 facilitates head and neck squamous cell
            carcinoma via up-regulation of TNRC6B
  JOURNAL   Biomed Pharmacother 128, 110220 (2020)
   PUBMED   32450521
  REMARK    GeneRIF: FOXA1-induced LINC01207 facilitates head and neck squamous
            cell carcinoma via up-regulation of TNRC6B.
REFERENCE   4  (residues 1 to 1833)
  AUTHORS   Rasch F, Weber R, Izaurralde E and Igreja C.
  TITLE     4E-T-bound mRNAs are stored in a silenced and deadenylated form
  JOURNAL   Genes Dev 34 (11-12), 847-860 (2020)
   PUBMED   32354837
REFERENCE   5  (residues 1 to 1833)
  AUTHORS   Liu Z, Johnson ST, Zhang Z and Corey DR.
  TITLE     Expression of TNRC6 (GW182) Proteins Is Not Necessary for Gene
            Silencing by Fully Complementary RNA Duplexes
  JOURNAL   Nucleic Acid Ther 29 (6), 323-334 (2019)
   PUBMED   31670606
  REMARK    GeneRIF: Expression of TNRC6 (GW182) Proteins Is Not Necessary for
            Gene Silencing by Fully Complementary RNA Duplexes.
REFERENCE   6  (residues 1 to 1833)
  AUTHORS   Hock J, Weinmann L, Ender C, Rudel S, Kremmer E, Raabe M, Urlaub H
            and Meister G.
  TITLE     Proteomic and functional analysis of Argonaute-containing
            mRNA-protein complexes in human cells
  JOURNAL   EMBO Rep 8 (11), 1052-1060 (2007)
   PUBMED   17932509
REFERENCE   7  (residues 1 to 1833)
  AUTHORS   Schneider MD, Najand N, Chaker S, Pare JM, Haskins J, Hughes SC,
            Hobman TC, Locke J and Simmonds AJ.
  TITLE     Gawky is a component of cytoplasmic mRNA processing bodies required
            for early Drosophila development
  JOURNAL   J Cell Biol 174 (3), 349-358 (2006)
   PUBMED   16880270
REFERENCE   8  (residues 1 to 1833)
  AUTHORS   Meister G, Landthaler M, Peters L, Chen PY, Urlaub H, Luhrmann R
            and Tuschl T.
  TITLE     Identification of novel argonaute-associated proteins
  JOURNAL   Curr Biol 15 (23), 2149-2155 (2005)
   PUBMED   16289642
REFERENCE   9  (residues 1 to 1833)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   10 (residues 1 to 1833)
  AUTHORS   Gubin AN, Njoroge JM, Bouffard GG and Miller JL.
  TITLE     Gene expression in proliferating human erythroid cells
  JOURNAL   Genomics 59 (2), 168-177 (1999)
   PUBMED   10409428
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX952326.1, AK294519.1, BQ009349.1, AL022238.1, BX537577.1,
            DB147781.1, AL831862.1, BU584176.1 and CA312515.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.62021.1,
                                           SRR1803611.74886.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2149004
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000454349.7/ ENSP00000401946.2
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1833
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     Protein         1..1833
                     /product="trinucleotide repeat-containing gene 6B protein
                     isoform 1"
                     /note="trinucleotide repeat-containing gene 6B protein;
                     trinucleotide repeat containing 6B"
                     /calculated_mol_wt=193872
     Region          1..994
                     /region_name="Interaction with argonaute proteins"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Region          1..98
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Region          126..164
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Region          205..350
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Region          367..1046
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Site            879
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Region          922..1060
                     /region_name="Ago_hook"
                     /note="Argonaute hook; pfam10427"
                     /db_xref="CDD:431279"
     Region          1193..1212
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Region          1218..1723
                     /region_name="Silencing domain, interaction with CNOT1 and
                     PAN3. /evidence=ECO:0000269|PubMed:21981923"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Region          1316..1346
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Region          1367..1645
                     /region_name="TNRC6-PABC_bdg"
                     /note="TNRC6-PABC binding domain; pfam16608"
                     /db_xref="CDD:435458"
     Site            1432
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BKI2; propagated from
                     UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Site            1449
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8BKI2; propagated from
                     UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Site            1461
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BKI2; propagated from
                     UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Site            1464
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8BKI2; propagated from
                     UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Region          1472..1490
                     /region_name="PABPC1-interacting motif-2 (PAM2)"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Region          1590..1638
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Region          1647..1729
                     /region_name="RRM_TNRC6B"
                     /note="RNA recognition motif (RRM) found in vertebrate
                     trinucleotide repeat-containing gene 6B protein (TNRC6B);
                     cd12712"
                     /db_xref="CDD:410111"
     Region          1730..1763
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Region          1809..1833
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Site            1816
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     Site            1832
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9UPQ9.4)"
     CDS             1..1833
                     /gene="TNRC6B"
                     /gene_synonym="GDSBA"
                     /coded_by="NM_001162501.2:212..5713"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS54533.1"
                     /db_xref="GeneID:23112"
                     /db_xref="HGNC:HGNC:29190"
                     /db_xref="MIM:610740"
ORIGIN      
        1 mrekeqeree qlmedkkrkk edkkkkeatq kvteqktkvp evtkpslsqp taaspigssp
       61 sppvnggnna krvavpngqp psaarympre vpprfrcqqd hkvllkrgqp pppscmllgg
      121 gagpppctap ganpnnaqvt gallqsesgt apdstlggaa asnyanstwg sgassnngts
      181 pnpihiwdkv ivdgsdmeew pciaskdtes ssenttdnns asnpgsekst lpgsttsnkg
      241 kgsqcqsass gnecnlgvwk sdpkaksvqs snsttennng lgnwrnvsgq drigpgsgfs
      301 nfnpnsnpsa wpalvqegts rkgaletdns nssaqvstvg qtsreqqskm enagvnfvvs
      361 greqaqihnt dgpkngntns lnlsspnpme nkgmpfgmgl gntsrstdap sqstgdrktg
      421 svgswgaarg psgtdtvsgq snsgnngnng keredswkga svqkstgskn dswdnnnrst
      481 ggswnfgpqd sndnkwgegn kmtsgvsqge wkqptgsdel kigewsgpnq pnsstgawdn
      541 qkghplpenq gnaqapcwgr sssstgsevg gqstgsnhka gssdshnsgr rsyrpthpdc
      601 qavlqtllsr tdldprvlsn tgwgqtqikq dtvwdieevp rpegksdkgt egwesaatqt
      661 knsggwgdap sqsnqmksgw gelsastewk dpkntggwnd yknnnssnwg ggrpdektps
      721 swnenpskdq gwgggrqpnq gwssgkngwg eevdqtknsn wessaskpvs gwgeggqnei
      781 gtwgnggnas laskggwedc krspawnetg rqpnswnkqh qqqqppqqpp ppqpeasgsw
      841 ggppppppgn vrpsnsswss gpqpatpkde epsgweepsp qsisrkmdid dgtsawgdpn
      901 synyknvnlw dknsqggpap repnlptpmt sksasvwsks tppapdngts awgepnessp
      961 gwgemddtga sttgwgntpa napnamkpns ksmqdgwges dgpvtgarhp sweeeedggv
     1021 wnttgsqgsa sshnsaswgq ggkkqmkcsl kggnndswmn plakqfsnmg llsqtednps
     1081 skmdlsvgsl sdkkfdvdkr amnlgdfndi mrkdrsgfrp pnskdmgttd sgpyfekltl
     1141 pfsnqdgclg deapcspfsp spsyklspsg stlpnvslga igtglnpqnf aarqggshgl
     1201 fgnstaqsrg lhtpvqplns spslraqvpp qfispqvsas mlkqfpnsgl spglfnvgpq
     1261 lspqqiamls qlpqipqfql acqlllqqqq qqqllqnqrk isqavrqqqe qqlarmvsal
     1321 qqqqqqqqrq pgmkhspshp vgpkphldnm vpnalnvglp dlqtkgpipg ygsgfssggm
     1381 dygmvggkea gtesrfkqwt smmeglpsva tqeanmhkng aivapgktrg gspynqfdii
     1441 pgdtlgghtg pagdswlpak spptnkigsk ssnaswppef qpgvpwkgiq nidpesdpyv
     1501 tpgsvlggta tspivdtdhq llrdnttgsn sslntslpsp gawpysasdn sftnvhstsa
     1561 kfpdykstws pdpighnpth lsnkmwknhi ssrnttplpr pppgltnpkp sspwsstapr
     1621 svrgwgtqds rlasastwsd ggsvrpsywl vlhnltpqid gstlrticmq hgplltfhln
     1681 ltqgtaliry stkqeaakaq talhmcvlgn ttilaefatd devsrflaqa qpptpaatps
     1741 apaagwqsle tgqnqsdpvg palnlfggst glgqwsssag gssgadlaga slwgppnyss
     1801 slwgvptved phrmgspapl lpgdllgggs dsi
//
LOCUS       NP_001272374             760 aa            linear   PRI 25-DEC-2022
DEFINITION  pyridoxal-dependent decarboxylase domain-containing protein 1
            isoform 3 [Homo sapiens].
ACCESSION   NP_001272374 XP_005255237
VERSION     NP_001272374.1
DBSOURCE    REFSEQ: accession NM_001285445.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 760)
  AUTHORS   Cannon-Albright LA, Farnham JM, Stevens J, Teerlink CC, Palmer CA,
            Rowe K, Cessna MH and Blumenthal DT.
  TITLE     Genome-wide analysis of high-risk primary brain cancer pedigrees
            identifies PDXDC1 as a candidate brain cancer predisposition gene
  JOURNAL   Neuro Oncol 23 (2), 277-283 (2021)
   PUBMED   32644145
  REMARK    GeneRIF: Genome-wide analysis of high-risk primary brain cancer
            pedigrees identifies PDXDC1 as a candidate brain cancer
            predisposition gene.
REFERENCE   2  (residues 1 to 760)
  AUTHORS   Feldcamp LA, Boutros PC, Raymond R, Fletcher PJ, Nobrega JN and
            Wong AHC.
  TITLE     Pdxdc1 modulates prepulse inhibition of acoustic startle in the
            mouse
  JOURNAL   Transl Psychiatry 7 (5), e1125 (2017)
   PUBMED   28485732
  REMARK    GeneRIF: This study's results suggest that Pdxdc1 may regulate
            acoustic pre-pulse inhibition and could be a good target for
            further investigation as a potential treatment for schizophrenia.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 760)
  AUTHORS   Guo Z, Neilson LJ, Zhong H, Murray PS, Zanivan S and Zaidel-Bar R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 760)
  AUTHORS   Guan W, Steffen BT, Lemaitre RN, Wu JHY, Tanaka T, Manichaikul A,
            Foy M, Rich SS, Wang L, Nettleton JA, Tang W, Gu X, Bandinelli S,
            King IB, McKnight B, Psaty BM, Siscovick D, Djousse L, Chen YI,
            Ferrucci L, Fornage M, Mozafarrian D, Tsai MY and Steffen LM.
  TITLE     Genome-wide association study of plasma N6 polyunsaturated fatty
            acids within the cohorts for heart and aging research in genomic
            epidemiology consortium
  JOURNAL   Circ Cardiovasc Genet 7 (3), 321-331 (2014)
   PUBMED   24823311
REFERENCE   5  (residues 1 to 760)
  AUTHORS   Shin SY, Fauman EB, Petersen AK, Krumsiek J, Santos R, Huang J,
            Arnold M, Erte I, Forgetta V, Yang TP, Walter K, Menni C, Chen L,
            Vasquez L, Valdes AM, Hyde CL, Wang V, Ziemek D, Roberts P, Xi L,
            Grundberg E, Waldenberger M, Richards JB, Mohney RP, Milburn MV,
            John SL, Trimmer J, Theis FJ, Overington JP, Suhre K, Brosnan MJ,
            Gieger C, Kastenmuller G, Spector TD and Soranzo N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   6  (residues 1 to 760)
  AUTHORS   Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni
            S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS,
            Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R,
            Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K,
            Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K,
            Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen
            M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson
            PKE, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte
            IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena
            R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ,
            Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik
            EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher
            D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL,
            Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney ASF, Doring
            A, Elliott P, Epstein SE, Ingi Eyjolfsson G, Gigante B, Goodarzi
            MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL,
            Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones
            MR, Kaleebu P, Kastelein JJP, Khaw KT, Kim E, Klopp N, Komulainen
            P, Kumari M, Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos
            RJF, Mach F, McArdle WL, Meisinger C, Mitchell BD, Muller G,
            Nagaraja R, Narisu N, Nieminen TVM, Nsubuga RN, Olafsson I, Ong KK,
            Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP,
            Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl
            H, Seeley J, Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret
            L, Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga
            C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH,
            Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud
            M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier
            M, Campbell H, Chakravarti A, Chambers JC, Chen YI, Collins FS,
            Cooper RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrieres
            J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V,
            Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN,
            Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K,
            Iribarren C, Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A,
            Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J,
            Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz
            W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L,
            Morris AD, Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller
            PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D,
            Salomaa V, Sanghera DK, Saramies J, Schwarz PEH, Sheu WH, Shuldiner
            AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO,
            Tremoli E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P,
            Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BHR, Ordovas
            JM, Boerwinkle E, Palmer CNA, Thorsteinsdottir U, Chasman DI,
            Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS,
            Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E and
            Abecasis GR.
  CONSRTM   Global Lipids Genetics Consortium
  TITLE     Discovery and refinement of loci associated with lipid levels
  JOURNAL   Nat Genet 45 (11), 1274-1283 (2013)
   PUBMED   24097068
REFERENCE   7  (residues 1 to 760)
  AUTHORS   Kettunen J, Tukiainen T, Sarin AP, Ortega-Alonso A, Tikkanen E,
            Lyytikainen LP, Kangas AJ, Soininen P, Wurtz P, Silander K, Dick
            DM, Rose RJ, Savolainen MJ, Viikari J, Kahonen M, Lehtimaki T,
            Pietilainen KH, Inouye M, McCarthy MI, Jula A, Eriksson J,
            Raitakari OT, Salomaa V, Kaprio J, Jarvelin MR, Peltonen L, Perola
            M, Freimer NB, Ala-Korpela M, Palotie A and Ripatti S.
  TITLE     Genome-wide association study identifies multiple loci influencing
            human serum metabolite levels
  JOURNAL   Nat Genet 44 (3), 269-276 (2012)
   PUBMED   22286219
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 760)
  AUTHORS   Demirkan A, van Duijn CM, Ugocsai P, Isaacs A, Pramstaller PP,
            Liebisch G, Wilson JF, Johansson A, Rudan I, Aulchenko YS,
            Kirichenko AV, Janssens AC, Jansen RC, Gnewuch C, Domingues FS,
            Pattaro C, Wild SH, Jonasson I, Polasek O, Zorkoltseva IV, Hofman
            A, Karssen LC, Struchalin M, Floyd J, Igl W, Biloglav Z, Broer L,
            Pfeufer A, Pichler I, Campbell S, Zaboli G, Kolcic I, Rivadeneira
            F, Huffman J, Hastie ND, Uitterlinden A, Franke L, Franklin CS,
            Vitart V, Nelson CP, Preuss M, Bis JC, O'Donnell CJ, Franceschini
            N, Witteman JC, Axenovich T, Oostra BA, Meitinger T, Hicks AA,
            Hayward C, Wright AF, Gyllensten U, Campbell H and Schmitz G.
  CONSRTM   DIAGRAM Consortium; CARDIoGRAM Consortium; CHARGE Consortium;
            EUROSPAN consortium
  TITLE     Genome-wide association study identifies novel loci associated with
            circulating phospho- and sphingolipid concentrations
  JOURNAL   PLoS Genet 8 (2), e1002490 (2012)
   PUBMED   22359512
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY036748.1, BC053946.1, AK299111.1, D87438.1, BC042104.2,
            BC060871.1, BM997114.1 and AC138932.4.
            On Oct 19, 2013 this sequence version replaced XP_005255237.1.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..760
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.11"
     Protein         1..760
                     /product="pyridoxal-dependent decarboxylase
                     domain-containing protein 1 isoform 3"
                     /note="pyridoxal-dependent decarboxylase domain-containing
                     protein 1"
                     /calculated_mol_wt=83441
     Region          <144..366
                     /region_name="AAT_I"
                     /note="Aspartate aminotransferase (AAT) superfamily (fold
                     type I) of pyridoxal phosphate (PLP)-dependent enzymes.
                     PLP combines with an alpha-amino acid to form a compound
                     called a Schiff base or aldimine intermediate, which
                     depending on the reaction, is the...; cl18945"
                     /db_xref="CDD:450240"
     CDS             1..760
                     /gene="PDXDC1"
                     /gene_synonym="LP8165"
                     /coded_by="NM_001285445.2:175..2457"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS66955.1"
                     /db_xref="GeneID:23042"
                     /db_xref="HGNC:HGNC:28995"
                     /db_xref="MIM:614244"
ORIGIN      
        1 mdaslekiad ptlaemgknl keavkmleds qrteeengkk lisgdipgpl qgriqnigeq
       61 ghmallghsl gayistldke klrklttril sdttlwlcri fryengcayf heeereglak
      121 icrlaihsry edfvvdgfnv lynkkpviyl saaarpglgq ylcnqlglpf pclcrvpcnt
      181 vfgsqhqmdv afleklikdd iergrlplll vanagtaavg htdkigrlke lceqygiwlh
      241 vegvnlatla lgyvsssvla aakcdsmtmt pgpwlglpav pavtlykhdd paltlvaglt
      301 snkptdklra lplwlslqyl gldgfverik hacqlsqrlq eslkkvnyik ilvedelssp
      361 vvvfrffqel pgsdpvfkav pvpnmtpsgv grerhscdal nrwlgeqlkq lvpasgltvm
      421 dleaegtclr fsplmtaavl gtrgedvdql vaciesklpv lcctlqlree fkqeveatag
      481 llyvddpnws gigvvryeha nddksslksd pegenihagl lkklnelesd ltfkigpeyk
      541 smksclyvgm asdnvdaael vetiaatare ieensrllen mtevvrkgiq eaqvelqkas
      601 eerlleegvl rqipvvgsvl nwfspvqalq kgrtfnltag slestepiyv ykaqgagvtl
      661 pptpsgsrtk qrlpgqkpfk rslrgsdals etssvshied lekverlssg peqitleass
      721 teghpgapsp qhtdqteafq kgvphpeddh sqvegpeslr
//
LOCUS       NP_000879                788 aa            linear   PRI 25-DEC-2022
DEFINITION  integrin beta-6 isoform a precursor [Homo sapiens].
ACCESSION   NP_000879
VERSION     NP_000879.2
DBSOURCE    REFSEQ: accession NM_000888.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 788)
  AUTHORS   You B, Pan S, Gu M, Zhang K, Xia T, Zhang S, Chen W, Xie H, Fan Y,
            Yao H, Cheng T, Zhang P, Liu D and You Y.
  TITLE     Extracellular vesicles rich in HAX1 promote angiogenesis by
            modulating ITGB6 translation
  JOURNAL   J Extracell Vesicles 11 (5), e12221 (2022)
   PUBMED   35524442
  REMARK    GeneRIF: Extracellular vesicles rich in HAX1 promote angiogenesis
            by modulating ITGB6 translation.
            Erratum:[J Extracell Vesicles. 2022 May;11(6):e12236. PMID:
            35676233]
REFERENCE   2  (residues 1 to 788)
  AUTHORS   Xie H, Jiao Y, Zhou X, Liao X, Chen J, Chen H, Chen L, Yu S, Deng
            Q, Sun L, Xu X and Wang J.
  TITLE     Integrin alphavbeta6 contributes to the development of intestinal
            fibrosis via the FAK/AKT signaling pathway
  JOURNAL   Exp Cell Res 411 (2), 113003 (2022)
   PUBMED   34979108
  REMARK    GeneRIF: Integrin alphavbeta6 contributes to the development of
            intestinal fibrosis via the FAK/AKT signaling pathway.
REFERENCE   3  (residues 1 to 788)
  AUTHORS   Meecham A and Marshall JF.
  TITLE     The ITGB6 gene: its role in experimental and clinical biology
  JOURNAL   Gene 763S, 100023 (2020)
   PUBMED   34493369
  REMARK    GeneRIF: The ITGB6 gene: its role in experimental and clinical
            biology.
            Review article
REFERENCE   4  (residues 1 to 788)
  AUTHORS   Munger JS, Huang X, Kawakatsu H, Griffiths MJ, Dalton SL, Wu J,
            Pittet JF, Kaminski N, Garat C, Matthay MA, Rifkin DB and Sheppard
            D.
  TITLE     The integrin alpha v beta 6 binds and activates latent TGF beta 1:
            a mechanism for regulating pulmonary inflammation and fibrosis
  JOURNAL   Cell 96 (3), 319-328 (1999)
   PUBMED   10025398
REFERENCE   5  (residues 1 to 788)
  AUTHORS   Huang XZ, Chen A, Agrez M and Sheppard D.
  TITLE     A point mutation in the integrin beta 6 subunit abolishes both
            alpha v beta 6 binding to fibronectin and receptor localization to
            focal contacts
  JOURNAL   Am J Respir Cell Mol Biol 13 (2), 245-251 (1995)
   PUBMED   7626292
REFERENCE   6  (residues 1 to 788)
  AUTHORS   Weinacker A, Ferrando R, Elliott M, Hogg J, Balmes J and Sheppard
            D.
  TITLE     Distribution of integrins alpha v beta 6 and alpha 9 beta 1 and
            their known ligands, fibronectin and tenascin, in human airways
  JOURNAL   Am J Respir Cell Mol Biol 12 (5), 547-556 (1995)
   PUBMED   7537970
REFERENCE   7  (residues 1 to 788)
  AUTHORS   Fernandez-Ruiz E and Sanchez-Madrid F.
  TITLE     Regional localization of the human integrin beta 6 gene (ITGB6) to
            chromosome 2q24-q31
  JOURNAL   Genomics 21 (3), 638-640 (1994)
   PUBMED   7959743
REFERENCE   8  (residues 1 to 788)
  AUTHORS   Busk M, Pytela R and Sheppard D.
  TITLE     Characterization of the integrin alpha v beta 6 as a
            fibronectin-binding protein
  JOURNAL   J Biol Chem 267 (9), 5790-5796 (1992)
   PUBMED   1532572
REFERENCE   9  (residues 1 to 788)
  AUTHORS   Krissansen GW, Yuan Q, Jenkins D, Jiang WM, Rooke L, Spurr NK,
            Eccles M, Leung E and Watson JD.
  TITLE     Chromosomal locations of the genes coding for the integrin beta 6
            and beta 7 subunits
  JOURNAL   Immunogenetics 35 (1), 58-61 (1992)
   PUBMED   1729173
REFERENCE   10 (residues 1 to 788)
  AUTHORS   Sheppard D, Rozzo C, Starr L, Quaranta V, Erle DJ and Pytela R.
  TITLE     Complete amino acid sequence of a novel integrin beta subunit (beta
            6) identified in epithelial cells using the polymerase chain
            reaction
  JOURNAL   J Biol Chem 265 (20), 11502-11507 (1990)
   PUBMED   2365683
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB222211.1, AC092153.4,
            BC121178.2, AC080166.6, AL831998.1 and AI264144.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 1, 2000 this sequence version replaced NP_000879.1.
            
            Summary: This gene encodes a protein that is a member of the
            integrin superfamily. Members of this family are adhesion receptors
            that function in signaling from the extracellular matrix to the
            cell. Integrins are heterodimeric integral membrane proteins
            composed of an alpha chain and a beta chain. The encoded protein
            forms a dimer with an alpha v chain and this heterodimer can bind
            to ligands like fibronectin and transforming growth factor beta 1.
            Alternate splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). Variants 1 and 2
            encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL831998.1, AK290300.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000283249.7/ ENSP00000283249.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..788
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.2"
     Protein         1..788
                     /product="integrin beta-6 isoform a precursor"
                     /note="integrin, beta 6"
                     /calculated_mol_wt=83532
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2423
     mat_peptide     22..788
                     /product="Integrin beta-6. /id=PRO_0000016350"
                     /note="propagated from UniProtKB/Swiss-Prot (P18564.2)"
                     /calculated_mol_wt=83532
     Region          30..454
                     /region_name="INB"
                     /note="Integrin beta subunits (N-terminal portion of
                     extracellular region); smart00187"
                     /db_xref="CDD:197563"
     Site            48
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P18564.2)"
     Site            97
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P18564.2)"
     Site            260
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28117447; propagated from
                     UniProtKB/Swiss-Prot (P18564.2)"
     Site            387
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P18564.2)"
     Site            396
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P18564.2)"
     Region          456..619
                     /region_name="Cysteine-rich tandem repeats"
                     /note="propagated from UniProtKB/Swiss-Prot (P18564.2)"
     Region          456..485
                     /region_name="I-EGF_1"
                     /note="Integrin beta epidermal growth factor like domain
                     1; pfam18372"
                     /db_xref="CDD:436446"
     Site            463
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P18564.2)"
     Site            471
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P18564.2)"
     Site            541
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P18564.2)"
     Site            575
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P18564.2)"
     Region          624..706
                     /region_name="Integrin_B_tail"
                     /note="Integrin beta tail domain; pfam07965"
                     /db_xref="CDD:429757"
     Site            710..730
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P18564.2)"
     Region          731..774
                     /region_name="Integrin_b_cyt"
                     /note="Integrin beta cytoplasmic domain; pfam08725"
                     /db_xref="CDD:430176"
     Region          731..758
                     /region_name="Interaction with HAX1.
                     /evidence=ECO:0000269|PubMed:17545607"
                     /note="propagated from UniProtKB/Swiss-Prot (P18564.2)"
     CDS             1..788
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /coded_by="NM_000888.5:210..2576"
                     /note="isoform a precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS2212.1"
                     /db_xref="GeneID:3694"
                     /db_xref="HGNC:HGNC:6161"
                     /db_xref="MIM:147558"
ORIGIN      
        1 mgiellclff lflgrndhvq ggcalggaet cedclligpq cawcaqenft hpsgvgercd
       61 tpanllakgc qlnfienpvs qveilknkpl svgrqknssd ivqiapqsli lklrpggaqt
      121 lqvhvrqted ypvdlyylmd lsasmdddln tikelgsrls kemskltsnf rlgfgsfvek
      181 pvspfvkttp eeianpcssi pyfclptfgf khilpltnda erfneivknq kisanidtpe
      241 ggfdaimqaa vckekigwrn dslhllvfvs dadshfgmds klagivipnd glchldskne
      301 ysmstvleyp tigqlidklv qnnvllifav tqeqvhlyen yaklipgatv gllqkdsgni
      361 lqliisayee lrsevelevl gdteglnlsf taicnngtlf qhqkkcshmk vgdtasfsvt
      421 vniphcerrs rhiiikpvgl gdalellvsp ecncdcqkev evnsskchhg ngsfqcgvca
      481 chpghmgprc ecgedmlstd sckeapdhps csgrgdcycg qcichlspyg niygpycqcd
      541 nfscvrhkgl lcggngdcdc gecvcrsgwt geycncttst dscvsedgvl csgrgdcvcg
      601 kcvctnpgas gptcercptc gdpcnskrsc iechlsaagq areecvdkck lagatiseee
      661 dfskdgsvsc slqgenecli tflittdneg ktiihsinek dcpkppnipm imlgvslail
      721 ligvvllciw kllvsfhdrk evakfeaers kakwqtgtnp lyrgststfk nvtykhrekq
      781 kvdlstdc
//
LOCUS       NP_001247426             618 aa            linear   PRI 26-DEC-2022
DEFINITION  potassium voltage-gated channel subfamily C member 2 isoform 4
            [Homo sapiens].
ACCESSION   NP_001247426
VERSION     NP_001247426.1
DBSOURCE    REFSEQ: accession NM_001260497.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 618)
  AUTHORS   Li L, Liu Z, Yang H, Li Y, Zeng Q, Chen L, Liu Y, Chen Y, Zhu F,
            Cao D, Hu J and Shen X.
  TITLE     Investigation of novel de novo KCNC2 variants causing severe
            developmental and early-onset epileptic encephalopathy
  JOURNAL   Seizure 101, 218-224 (2022)
   PUBMED   36087422
  REMARK    GeneRIF: Investigation of novel de novo KCNC2 variants causing
            severe developmental and early-onset epileptic encephalopathy.
REFERENCE   2  (residues 1 to 618)
  AUTHORS   Schwarz N, Seiffert S, Pendziwiat M, Rademacher AV, Brunger T,
            Hedrich UBS, Augustijn PB, Baier H, Bayat A, Bisulli F, Buono RJ,
            Bruria BZ, Doyle MG, Guerrini R, Heimer G, Iacomino M, Kearney H,
            Klein KM, Kousiappa I, Kunz WS, Lerche H, Licchetta L, Lohmann E,
            Minardi R, McDonald M, Montgomery S, Mulahasanovic L, Oegema R,
            Ortal B, Papacostas SS, Ragona F, Granata T, Reif PS, Rosenow F,
            Rothschild A, Scudieri P, Striano P, Tinuper P, Tanteles GA, Vetro
            A, Zahnert F, Goldberg EM, Zara F, Lal D, May P, Muhle H, Helbig I
            and Weber Y.
  TITLE     Spectrum of Phenotypic, Genetic, and Functional Characteristics in
            Patients With Epilepsy With KCNC2 Pathogenic Variants
  JOURNAL   Neurology 98 (20), e2046-e2059 (2022)
   PUBMED   35314505
  REMARK    GeneRIF: Spectrum of Phenotypic, Genetic, and Functional
            Characteristics in Patients With Epilepsy With KCNC2 Pathogenic
            Variants.
REFERENCE   3  (residues 1 to 618)
  AUTHORS   Rydzanicz M, Zwolinski P, Gasperowicz P, Pollak A, Kostrzewa G,
            Walczak A, Konarzewska M and Ploski R.
  TITLE     A recurrent de novo variant supports KCNC2 involvement in the
            pathogenesis of developmental and epileptic encephalopathy
  JOURNAL   Am J Med Genet A 185 (11), 3384-3389 (2021)
   PUBMED   34448338
  REMARK    GeneRIF: A recurrent de novo variant supports KCNC2 involvement in
            the pathogenesis of developmental and epileptic encephalopathy.
REFERENCE   4  (residues 1 to 618)
  AUTHORS   Stern S, Sarkar A, Stern T, Mei A, Mendes APD, Stern Y, Goldberg G,
            Galor D, Nguyen T, Randolph-Moore L, Kim Y, Rouleau G, Bang A, Alda
            M, Santos R, Marchetto MC and Gage FH.
  TITLE     Mechanisms Underlying the Hyperexcitability of CA3 and Dentate
            Gyrus Hippocampal Neurons Derived From Patients With Bipolar
            Disorder
  JOURNAL   Biol Psychiatry 88 (2), 139-149 (2020)
   PUBMED   31732108
  REMARK    GeneRIF: Mechanisms Underlying the Hyperexcitability of CA3 and
            Dentate Gyrus Hippocampal Neurons Derived From Patients With
            Bipolar Disorder.
REFERENCE   5  (residues 1 to 618)
  AUTHORS   Hwang JY, Lee HJ, Go MJ, Jang HB, Park SI, Kim BJ and Lee HJ.
  TITLE     An integrative study identifies KCNC2 as a novel predisposing
            factor for childhood obesity and the risk of diabetes in the Korean
            population
  JOURNAL   Sci Rep 6, 33043 (2016)
   PUBMED   27623749
  REMARK    GeneRIF: these data suggest that reduction of KCNC2 is associated
            with modified hepatic gluconeogenesis and increased ER stress on
            obesity-mediated diabetic risk.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 618)
  AUTHORS   Rajakulendran S, Roberts J, Koltzenburg M, Hanna MG and Stewart H.
  TITLE     Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a
            family with neurodevelopmental delay and ataxia
  JOURNAL   J Neurol Neurosurg Psychiatry 84 (11), 1255-1257 (2013)
   PUBMED   23475819
  REMARK    GeneRIF: This family's complex phenotype is associated with a new
            chromosomal deletion, which suggests potential roles for the two
            genes, KCNC2 and ATXN7L3B, in human neurological disease.
REFERENCE   7  (residues 1 to 618)
  AUTHORS   Boda E, Hoxha E, Pini A, Montarolo F and Tempia F.
  TITLE     Brain expression of Kv3 subunits during development, adulthood and
            aging and in a murine model of Alzheimer's disease
  JOURNAL   J Mol Neurosci 46 (3), 606-615 (2012)
   PUBMED   21912965
  REMARK    GeneRIF: Although all KV3 subunit transcripts are significantly
            expressed at embryonic age in whole brain extracts, only KV3.1,
            KV3.2 and KV3.4 subunit transgenic proteins are present.
REFERENCE   8  (residues 1 to 618)
  AUTHORS   Wang Z, Wong NC, Cheng Y, Kehl SJ and Fedida D.
  TITLE     Control of voltage-gated K+ channel permeability to NMDG+ by a
            residue at the outer pore
  JOURNAL   J Gen Physiol 133 (4), 361-374 (2009)
   PUBMED   19332619
  REMARK    GeneRIF: In the absence of potassium ion, significant
            N-methyl-D-glucamine (NMDG)-positive currents could be recorded
            from human embryonic kidney cells expressing Kv3.1 or Kv3.2b
            channels and Kv1.5 Arg487Tyr/Val, but not wild-type channels.
REFERENCE   9  (residues 1 to 618)
  AUTHORS   Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo
            LA, Robertson GA, Rudy B, Sanguinetti MC, Stuhmer W and Wang X.
  TITLE     International Union of Pharmacology. LIII. Nomenclature and
            molecular relationships of voltage-gated potassium channels
  JOURNAL   Pharmacol Rev 57 (4), 473-508 (2005)
   PUBMED   16382104
  REMARK    Review article
REFERENCE   10 (residues 1 to 618)
  AUTHORS   Haas M, Ward DC, Lee J, Roses AD, Clarke V, D'Eustachio P, Lau D,
            Vega-Saenz de Miera E and Rudy B.
  TITLE     Localization of Shaw-related K+ channel genes on mouse and human
            chromosomes
  JOURNAL   Mamm Genome 4 (12), 711-715 (1993)
   PUBMED   8111118
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091534.7, DC323864.1,
            AF268897.2, AK309245.1, AC073525.25 and DA218546.1.
            
            Summary: The Shaker gene family of Drosophila encodes components of
            voltage-gated potassium channels and is comprised of four
            subfamilies. Based on sequence similarity, this gene is similar to
            one of these subfamilies, namely the Shaw subfamily. The protein
            encoded by this gene belongs to the delayed rectifier class of
            channel proteins and is an integral membrane protein that mediates
            the voltage-dependent potassium ion permeability of excitable
            membranes. Several transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (4) differs in the 3' UTR and
            coding sequence compared to variant 2. The resulting isoform (4)
            has a shorter and distinct C-terminus compared to isoform KV3.2b.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.238686.1,
                                           SRR1660803.108668.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2153427
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..618
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.1"
     Protein         1..618
                     /product="potassium voltage-gated channel subfamily C
                     member 2 isoform 4"
                     /note="voltage-gated potassium channel Kv3.2; potassium
                     voltage-gated channel, Shaw-related subfamily, member 2;
                     shaw-like potassium channel; potassium channel, voltage
                     gated Shaw related subfamily C, member 2"
                     /calculated_mol_wt=68186
     Region          7..166
                     /region_name="BTB_KCNC2_4"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in potassium
                     voltage-gated channel subfamily C members KCNC2 and KCNC4;
                     cd18415"
                     /db_xref="CDD:349722"
     Site            order(13,15..22,25,103,105..106,109,112,116,119,122,124,
                     132..133,136)
                     /site_type="other"
                     /note="putative tetramer interface [polypeptide binding]"
                     /db_xref="CDD:349722"
     Region          38..93
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PR1.1)"
     Region          228..484
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Site            230..250
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PR1.1)"
     Site            259
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96PR1.1)"
     Site            266
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96PR1.1)"
     Site            284..303
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PR1.1)"
     Site            314..334
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PR1.1)"
     Site            346..368
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PR1.1)"
     Site            382..402
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PR1.1)"
     Region          437..442
                     /region_name="Selectivity filter. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PR1.1)"
     Site            453..473
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PR1.1)"
     Region          538..572
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PR1.1)"
     Site            600
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q14B80; propagated from
                     UniProtKB/Swiss-Prot (Q96PR1.1)"
     CDS             1..618
                     /gene="KCNC2"
                     /gene_synonym="DEE103; KV3.2"
                     /coded_by="NM_001260497.2:653..2509"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS58257.1"
                     /db_xref="GeneID:3747"
                     /db_xref="HGNC:HGNC:6234"
                     /db_xref="MIM:176256"
ORIGIN      
        1 mgkiennerv ilnvggtrhe tyrstlktlp gtrlallass eppgdcltta gdklqpsppp
       61 lsppprappl spgpggcfeg gagncssrgg rasdhpgggr efffdrhpgv fayvlnyyrt
      121 gklhcpadvc gplfeeelaf wgidetdvep ccwmtyrqhr daeealdife tpdliggdpg
      181 ddedlaakrl giedaaglgg pdgksgrwrr lqprmwalfe dpyssraarf iafaslffil
      241 vsittfclet heafnivknk tepvingtsv vlqyeietdp altyvegvcv vwftfeflvr
      301 ivfspnklef iknllniidf vailpfylev glsglsskaa kdvlgflrvv rfvrilrifk
      361 ltrhfvglrv lghtlrastn efllliifla lgvlifatmi yyaervgaqp ndpsasehtq
      421 fknipigfww avvtmttlgy gdmypqtwsg mlvgalcala gvltiampvp vivnnfgmyy
      481 slamakqklp rkrkkhippa pqassptfck telnmacnst qsdtclgkdn rllehnrsvl
      541 sgddstgsep plspperlpi rrsstrdknr rgetcflltt gdytcasdgg irkgirnghs
      601 ilhhldngtk chylriif
//
LOCUS       NP_001152980             393 aa            linear   PRI 26-DEC-2022
DEFINITION  isovaleryl-CoA dehydrogenase, mitochondrial isoform 2 precursor
            [Homo sapiens].
ACCESSION   NP_001152980
VERSION     NP_001152980.2
DBSOURCE    REFSEQ: accession NM_001159508.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 393)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 393)
  AUTHORS   Couce ML, Aldamiz-Echevarria L, Bueno MA, Barros P,
            Belanger-Quintana A, Blasco J, Garcia-Silva MT, Marquez-Armenteros
            AM, Vitoria I, Vives I, Navarrete R, Fernandez-Marmiesse A, Perez B
            and Perez-Cerda C.
  TITLE     Genotype and phenotype characterization in a Spanish cohort with
            isovaleric acidemia
  JOURNAL   J Hum Genet 62 (3), 355-360 (2017)
   PUBMED   27904153
  REMARK    GeneRIF: Nine novel isovaleryl-CoA dehydrogenase mutations have
            been found in a Spanish cohort with isovaleric acidemia.
REFERENCE   3  (residues 1 to 393)
  AUTHORS   Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET,
            Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK,
            Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS,
            Rensvold JW, Taylor RW, Prokisch H, Kim JP, Coon JJ and Pagliarini
            DJ.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   4  (residues 1 to 393)
  AUTHORS   Sakamoto O, Arai-Ichinoi N, Mitsubuchi H, Chinen Y, Haruna H,
            Maruyama H, Sugawara H and Kure S.
  TITLE     Phenotypic Variability and Newly Identified Mutations of the IVD
            Gene in Japanese Patients with Isovaleric Acidemia
  JOURNAL   Tohoku J Exp Med 236 (2), 103-106 (2015)
   PUBMED   26018748
  REMARK    GeneRIF: Our results have illustrated the heterogeneous mutation
            spectrum and clinical presentation of IVA in the Japanese patients
REFERENCE   5  (residues 1 to 393)
  AUTHORS   Mohsen AW and Vockley J.
  TITLE     Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and
            interaction with ligands
  JOURNAL   Biochimie 108, 108-119 (2015)
   PUBMED   25450250
  REMARK    GeneRIF: kinetics and ligand binding of isovaleryl-CoA
            dehydrogenase
REFERENCE   6  (residues 1 to 393)
  AUTHORS   Vockley J, Nagao M, Parimoo B and Tanaka K.
  TITLE     The variant human isovaleryl-CoA dehydrogenase gene responsible for
            type II isovaleric acidemia determines an RNA splicing error,
            leading to the deletion of the entire second coding exon and the
            production of a truncated precursor protein that interacts poorly
            with mitochondrial import receptors
  JOURNAL   J Biol Chem 267 (4), 2494-2501 (1992)
   PUBMED   1310317
REFERENCE   7  (residues 1 to 393)
  AUTHORS   Vockley J, Parimoo B and Tanaka K.
  TITLE     Molecular characterization of four different classes of mutations
            in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric
            acidemia
  JOURNAL   Am J Hum Genet 49 (1), 147-157 (1991)
   PUBMED   2063866
REFERENCE   8  (residues 1 to 393)
  AUTHORS   Matsubara Y, Ito M, Glassberg R, Satyabhama S, Ikeda Y and Tanaka
            K.
  TITLE     Nucleotide sequence of messenger RNA encoding human
            isovaleryl-coenzyme A dehydrogenase and its expression in
            isovaleric acidemia fibroblasts
  JOURNAL   J Clin Invest 85 (4), 1058-1064 (1990)
   PUBMED   2318964
REFERENCE   9  (residues 1 to 393)
  AUTHORS   Kraus JP, Matsubara Y, Barton D, Yang-Feng TL, Glassberg R, Ito M,
            Ikeda Y, Mole J, Francke U and Tanaka K.
  TITLE     Isolation of cDNA clones coding for rat isovaleryl-CoA
            dehydrogenase and assignment of the gene to human chromosome 15
  JOURNAL   Genomics 1 (3), 264-269 (1987)
   PUBMED   3446585
REFERENCE   10 (residues 1 to 393)
  AUTHORS   Finocchiaro,G., Ito,M. and Tanaka,K.
  TITLE     Purification and properties of short chain acyl-CoA, medium chain
            acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver
  JOURNAL   J Biol Chem 262 (17), 7982-7989 (1987)
   PUBMED   3597357
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK122922.1 and AC013356.8.
            On Aug 9, 2018 this sequence version replaced NP_001152980.1.
            
            Summary: Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial
            matrix enzyme that catalyzes the third step in leucine catabolism.
            The genetic deficiency of IVD results in an accumulation of
            isovaleric acid, which is toxic to the central nervous system and
            leads to isovaleric acidemia. Alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Aug
            2017].
            
            Transcript Variant: This variant (2) lacks an in-frame coding exon
            in the 5' coding region compared to variant 1. The resulting
            shorter isoform (2) lacks an internal protein segment compared to
            isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK122922.1, SRR1803614.13631.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG   :: upstream AUG and CDS
                                                  extension is not conserved
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..393
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     Protein         1..393
                     /product="isovaleryl-CoA dehydrogenase, mitochondrial
                     isoform 2 precursor"
                     /EC_number="1.3.8.4"
                     /EC_number="1.3.8.1"
                     /note="isovaleryl Coenzyme A dehydrogenase; isovaleryl-CoA
                     dehydrogenase, mitochondrial; epididymis secretory sperm
                     binding protein; butyryl-CoA dehydrogenase"
                     /calculated_mol_wt=42593
     Region          17..390
                     /region_name="IVD"
                     /note="Isovaleryl-CoA dehydrogenase; cd01156"
                     /db_xref="CDD:173845"
     Site            order(94,98,102,141,167,190,244,251,254,257,369..370,
                     373..375)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:173845"
     Site            order(132,134..135,140..141,165,167,376,378)
                     /site_type="other"
                     /note="FAD binding site [chemical binding]"
                     /db_xref="CDD:173845"
     Site            253
                     /site_type="active"
                     /note="catalytic base [active]"
                     /db_xref="CDD:173845"
     CDS             1..393
                     /gene="IVD"
                     /gene_synonym="ACAD2; IVDH"
                     /coded_by="NM_001159508.3:34..1215"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS53930.2"
                     /db_xref="GeneID:3712"
                     /db_xref="HGNC:HGNC:6186"
                     /db_xref="MIM:607036"
ORIGIN      
        1 matatrllgw rvaswrlrpp lagfvsqrah sllpvddain glseeqrqef wkqlgnlgvl
       61 gitapvqygg sglgylehvl vmeeisrasg avglsygahs nlcinqlvrn gneaqkekyl
      121 pklisgeyig alamsepnag sdvvsmklka ekkgnhyiln gnkfwitngp dadvlivyak
      181 tdlaavpasr gitafivekg mpgfstskkl dklgmrgsnt celifedcki paanilghen
      241 kgvyvlmsgl dlerlvlagg plglmqavld htipylhvre afgqkighfq lmqgkmadmy
      301 trlmacrqyv ynvakacdeg hctakdcagv ilysaecatq valdgiqcfg gngyindfpm
      361 grflrdakly eigagtsevr rlvigrafna dfh
//
LOCUS       NP_001368816             698 aa            linear   PRI 28-DEC-2022
DEFINITION  long-chain-fatty-acid--CoA ligase 1 isoform b [Homo sapiens].
ACCESSION   NP_001368816
VERSION     NP_001368816.1
DBSOURCE    REFSEQ: accession NM_001381887.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 698)
  AUTHORS   Ben-Zaken S, Nefussy B, Meckel Y, Eliakim A, Nemet D, Gotkine M,
            Lorber D, Zeev A and Drory VE.
  TITLE     Common genetic basis of ALS patients and soccer players may
            contribute to disease risk
  JOURNAL   Neurol Sci 43 (7), 4231-4238 (2022)
   PUBMED   35249138
  REMARK    GeneRIF: Common genetic basis of ALS patients and soccer players
            may contribute to disease risk.
REFERENCE   2  (residues 1 to 698)
  AUTHORS   Zhang L, Han B, Liu H, Wang J, Feng X, Sun W, Cai D, Jia H and
            Jiang D.
  TITLE     Circular RNA circACSL1 aggravated myocardial inflammation and
            myocardial injury by sponging miR-8055 and regulating MAPK14
            expression
  JOURNAL   Cell Death Dis 12 (5), 487 (2021)
   PUBMED   33986259
  REMARK    GeneRIF: Circular RNA circACSL1 aggravated myocardial inflammation
            and myocardial injury by sponging miR-8055 and regulating MAPK14
            expression.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 698)
  AUTHORS   Beatty A, Singh T, Tyurina YY, Tyurin VA, Samovich S, Nicolas E,
            Maslar K, Zhou Y, Cai KQ, Tan Y, Doll S, Conrad M, Subramanian A,
            Bayir H, Kagan VE, Rennefahrt U and Peterson JR.
  TITLE     Ferroptotic cell death triggered by conjugated linolenic acids is
            mediated by ACSL1
  JOURNAL   Nat Commun 12 (1), 2244 (2021)
   PUBMED   33854057
  REMARK    GeneRIF: Ferroptotic cell death triggered by conjugated linolenic
            acids is mediated by ACSL1.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 698)
  AUTHORS   Ma Y, Zha J, Yang X, Li Q, Zhang Q, Yin A, Beharry Z, Huang H,
            Huang J, Bartlett M, Ye K, Yin H and Cai H.
  TITLE     Long-chain fatty acyl-CoA synthetase 1 promotes prostate cancer
            progression by elevation of lipogenesis and fatty acid
            beta-oxidation
  JOURNAL   Oncogene 40 (10), 1806-1820 (2021)
   PUBMED   33564069
  REMARK    GeneRIF: Long-chain fatty acyl-CoA synthetase 1 promotes prostate
            cancer progression by elevation of lipogenesis and fatty acid
            beta-oxidation.
REFERENCE   5  (residues 1 to 698)
  AUTHORS   Zhang Q, Zhou W, Yu S, Ju Y, To SKY, Wong AST, Jiao Y, Poon TCW,
            Tam KY and Lee LTO.
  TITLE     Metabolic reprogramming of ovarian cancer involves ACSL1-mediated
            metastasis stimulation through upregulated protein myristoylation
  JOURNAL   Oncogene 40 (1), 97-111 (2021)
   PUBMED   33082557
  REMARK    GeneRIF: Metabolic reprogramming of ovarian cancer involves
            ACSL1-mediated metastasis stimulation through upregulated protein
            myristoylation.
REFERENCE   6  (residues 1 to 698)
  AUTHORS   Amigo L, McElroy MC, Morales MN and Bronfman M.
  TITLE     Subcellular distribution and characteristics of ciprofibroyl-CoA
            synthetase in rat liver. Its possible identity with long-chain
            acyl-CoA synthetase
  JOURNAL   Biochem J 284 (Pt 1) (Pt 1), 283-287 (1992)
   PUBMED   1599407
REFERENCE   7  (residues 1 to 698)
  AUTHORS   Abe T, Fujino T, Fukuyama R, Minoshima S, Shimizu N, Toh H, Suzuki
            H and Yamamoto T.
  TITLE     Human long-chain acyl-CoA synthetase: structure and chromosomal
            location
  JOURNAL   J Biochem 111 (1), 123-128 (1992)
   PUBMED   1607358
REFERENCE   8  (residues 1 to 698)
  AUTHORS   Stanczak H, Stanczak JJ and Singh I.
  TITLE     Chromosomal localization of the human gene for palmitoyl-CoA ligase
            (FACL1)
  JOURNAL   Cytogenet Cell Genet 59 (1), 17-19 (1992)
   PUBMED   1531127
REFERENCE   9  (residues 1 to 698)
  AUTHORS   Lageweg W, Wanders RJ and Tager JM.
  TITLE     Long-chain-acyl-CoA synthetase and very-long-chain-acyl-CoA
            synthetase activities in peroxisomes and microsomes from rat liver.
            An enzymological study
  JOURNAL   Eur J Biochem 196 (2), 519-523 (1991)
   PUBMED   2007410
REFERENCE   10 (residues 1 to 698)
  AUTHORS   Suzuki H, Kawarabayasi Y, Kondo J, Abe T, Nishikawa K, Kimura S,
            Hashimoto T and Yamamoto T.
  TITLE     Structure and regulation of rat long-chain acyl-CoA synthetase
  JOURNAL   J Biol Chem 265 (15), 8681-8685 (1990)
   PUBMED   2341402
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC084871.4 and AC079257.7.
            
            Summary: The protein encoded by this gene is an isozyme of the
            long-chain fatty-acid-coenzyme A ligase family. Although differing
            in substrate specificity, subcellular localization, and tissue
            distribution, all isozymes of this family convert free long-chain
            fatty acids into fatty acyl-CoA esters, and thereby play a key role
            in lipid biosynthesis and fatty acid degradation. Several
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Nov 2013].
            
            Transcript Variant: This variant (16), as well as variants 3 and
            13-15, encodes isoform b.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR7346977.1899533.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..698
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1"
     Protein         1..698
                     /product="long-chain-fatty-acid--CoA ligase 1 isoform b"
                     /EC_number="6.2.1.3"
                     /EC_number="6.2.1.15"
                     /EC_number="6.2.1.24"
                     /note="long-chain acyl-CoA synthetase 2; long-chain
                     fatty-acid-coenzyme A ligase 1; fatty-acid-Coenzyme A
                     ligase, long-chain 2; long-chain acyl-CoA synthetase 1;
                     paltimoyl-CoA ligase 1; palmitoyl-CoA ligase 2;
                     long-chain-fatty-acid--CoA ligase 1; fatty-acid-Coenzyme A
                     ligase, long-chain 1; lignoceroyl-CoA synthase; LACS 1;
                     LACS 2; palmitoyl-CoA ligase 1; long-chain fatty acid-CoA
                     ligase 2; phytanate--CoA ligase; arachidonate--CoA ligase"
                     /calculated_mol_wt=77777
     Region          116..694
                     /region_name="LC-FACS_euk"
                     /note="Eukaryotic long-chain fatty acid CoA synthetase
                     (LC-FACS); cd05927"
                     /db_xref="CDD:341250"
     Site            order(273,276..281,283..284)
                     /site_type="other"
                     /note="acyl-activating enzyme (AAE) consensus motif"
                     /db_xref="CDD:341250"
     Site            order(276,393..394,456..461,540,552,555,567,673)
                     /site_type="other"
                     /note="putative AMP binding site [chemical binding]"
                     /db_xref="CDD:341250"
     Site            order(276,320..321,366,368..369,372,393..394,456..461,540,
                     552,555,564..567,650)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:341250"
     Site            order(320,368..369,372,393,564..566,648,650)
                     /site_type="other"
                     /note="putative CoA binding site [chemical binding]"
                     /db_xref="CDD:341250"
     CDS             1..698
                     /gene="ACSL1"
                     /gene_synonym="ACS1; FACL1; FACL2; LACS; LACS1; LACS2"
                     /coded_by="NM_001381887.1:147..2243"
                     /note="isoform b is encoded by transcript variant 16"
                     /db_xref="CCDS:CCDS68826.1"
                     /db_xref="GeneID:2180"
                     /db_xref="HGNC:HGNC:3569"
                     /db_xref="MIM:152425"
ORIGIN      
        1 mqahelfryf rmpelvdfrq yvrtlptntl mgfgafaalt tfwyatrpkp lkppcdlsmq
       61 svevagsgga rrsalldsde plvyfyddvt tlyegfqrgi qvsnngpclg srkpdqpyew
      121 lsykqvaels ecigsaliqk gfktapdqfi gifaqnrpew viieqgcfay smvivplydt
      181 lgneaityiv nkaelslvfv dkpekaklll egvenklipg lkiivvmday gselvergqr
      241 cgvevtsmka medlgranrr kpkppapedl avicftsgtt gnpkgamvth rnivsdcsaf
      301 vkatekalpl sasdthisyl plahiyeqll kcvmlchgak igffqgdirl lmddlkvlqp
      361 tvfpvvprll nrmfdrifgq anttlkrwll dfaskrkeae lrsgiirnns lwdrlifhkv
      421 qsslggrvrl mvtgaapvsa tvltflraal gcqfyegygq tectagcclt mpgdwtaghv
      481 gapmpcnlik lvdveemnym aaegegevcv kgpnvfqgyl kdpaktaeal dkdgwlhtgd
      541 igkwlpngtl kiidrkkhif klaqgeyiap ekieniymrs epvaqvfvhg eslqafliai
      601 vvpdvetlcs waqkrgfegs feelcrnkdv kkailedmvr lgkdsglkpf eqvkgitlhp
      661 elfsidngll tptmkakrpe lrnyfrsqid dlystikv
//
LOCUS       NP_001273385             361 aa            linear   PRI 29-DEC-2022
DEFINITION  solute carrier family 22 member 23 isoform c [Homo sapiens].
ACCESSION   NP_001273385
VERSION     NP_001273385.1
DBSOURCE    REFSEQ: accession NM_001286456.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 361)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 361)
  AUTHORS   Serrano Leon A, Amir Shaghaghi M, Yurkova N, Bernstein CN,
            El-Gabalawy H and Eck P.
  TITLE     Single-nucleotide polymorphisms in SLC22A23 are associated with
            ulcerative colitis in a Canadian white cohort
  JOURNAL   Am J Clin Nutr 100 (1), 289-294 (2014)
   PUBMED   24740203
  REMARK    GeneRIF: Genetic variations in the SLC22A23 locus contribute to the
            susceptibility to inflammatory bowel disease in a small fraction of
            white patients.
REFERENCE   3  (residues 1 to 361)
  AUTHORS   Zheng JS, Arnett DK, Lee YC, Shen J, Parnell LD, Smith CE,
            Richardson K, Li D, Borecki IB, Ordovas JM and Lai CQ.
  TITLE     Genome-wide contribution of genotype by environment interaction to
            variation of diabetes-related traits
  JOURNAL   PLoS One 8 (10), e77442 (2013)
   PUBMED   24204828
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 361)
  AUTHORS   Shen Y, Nicoletti P, Floratos A, Pirmohamed M, Molokhia M, Geppetti
            P, Benemei S, Giomi B, Schena D, Vultaggio A, Stern R, Daly MJ,
            John S, Nelson MR and Pe'er I.
  CONSRTM   International Serious Adverse Events Consortium (SAEC)
  TITLE     Genome-wide association study of serious blistering skin rash
            caused by drugs
  JOURNAL   Pharmacogenomics J 12 (2), 96-104 (2012)
   PUBMED   21221126
REFERENCE   5  (residues 1 to 361)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA
            and Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   6  (residues 1 to 361)
  AUTHORS   Torkvist,L., Halfvarson,J., Ong,R.T., Lordal,M., Sjoqvist,U.,
            Bresso,F., Bjork,J., Befrits,R., Lofberg,R., Blom,J., Carlson,M.,
            Padyukov,L., D'Amato,M., Seielstad,M. and Pettersson,S.
  TITLE     Analysis of 39 Crohn's disease risk loci in Swedish inflammatory
            bowel disease patients
  JOURNAL   Inflamm Bowel Dis 16 (6), 907-909 (2010)
   PUBMED   19760754
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 361)
  AUTHORS   Henckaerts L, Van Steen K, Verstreken I, Cleynen I, Franke A,
            Schreiber S, Rutgeerts P and Vermeire S.
  TITLE     Genetic risk profiling and prediction of disease course in Crohn's
            disease patients
  JOURNAL   Clin Gastroenterol Hepatol 7 (9), 972-980 (2009)
   PUBMED   19422935
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 361)
  AUTHORS   Weersma RK, Stokkers PC, Cleynen I, Wolfkamp SC, Henckaerts L,
            Schreiber S, Dijkstra G, Franke A, Nolte IM, Rutgeerts P, Wijmenga
            C and Vermeire S.
  TITLE     Confirmation of multiple Crohn's disease susceptibility loci in a
            large Dutch-Belgian cohort
  JOURNAL   Am J Gastroenterol 104 (3), 630-638 (2009)
   PUBMED   19174780
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 361)
  AUTHORS   Anderson CA, Massey DC, Barrett JC, Prescott NJ, Tremelling M,
            Fisher SA, Gwilliam R, Jacob J, Nimmo ER, Drummond H, Lees CW,
            Onnie CM, Hanson C, Blaszczyk K, Ravindrarajah R, Hunt S, Varma D,
            Hammond N, Lewis G, Attlesey H, Watkins N, Ouwehand W, Strachan D,
            McArdle W, Lewis CM, Lobo A, Sanderson J, Jewell DP, Deloukas P,
            Mansfield JC, Mathew CG, Satsangi J and Parkes M.
  CONSRTM   Wellcome Trust Case Control Consortium
  TITLE     Investigation of Crohn's disease risk loci in ulcerative colitis
            further defines their molecular relationship
  JOURNAL   Gastroenterology 136 (2), 523-9 (2009)
   PUBMED   19068216
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (residues 1 to 361)
  AUTHORS   Jacobsson JA, Haitina T, Lindblom J and Fredriksson R.
  TITLE     Identification of six putative human transporters with structural
            similarity to the drug transporter SLC22 family
  JOURNAL   Genomics 90 (5), 595-609 (2007)
   PUBMED   17714910
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL160398.27 and AL445309.13.
            
            Summary: SLC22A23 belongs to a large family of transmembrane
            proteins that function as uniporters, symporters, and antiporters
            to transport organic ions across cell membranes (Jacobsson et al.,
            2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (4) lacks multiple exons in the 3'
            region but includes an alternate 3' exon, and it thus lacks a
            portion of the 3' coding region and differs in the 3' UTR, compared
            to variant 1. The encoded isoform (c) is shorter at the C-terminus,
            compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC040876.1, SRR12514508.170223.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..361
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.2"
     Protein         1..361
                     /product="solute carrier family 22 member 23 isoform c"
                     /note="ion transporter protein"
                     /calculated_mol_wt=37918
     Region          1..62
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A5C7.2)"
     Site            24
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (A1A5C7.2)"
     Region          169..193
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A5C7.2)"
     Region          192..>361
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     Site            234..254
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A5C7.2)"
     Site            258..278
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A5C7.2)"
     Site            279
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (A1A5C7.2)"
     Site            288..308
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A5C7.2)"
     Site            315..335
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A5C7.2)"
     CDS             1..361
                     /gene="SLC22A23"
                     /gene_synonym="C6orf85"
                     /coded_by="NM_001286456.2:492..1577"
                     /note="isoform c is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS75389.1"
                     /db_xref="GeneID:63027"
                     /db_xref="HGNC:HGNC:21106"
                     /db_xref="MIM:611697"
ORIGIN      
        1 maidrrreaa gggpgrqpap aeengslppg daaasaplgg ragpgggaei qplpplhpgg
       61 gphpsccsaa aapslllldy dgsvlpflgg lgggyqktlv lltwipalfi gfsqfsdsfl
      121 ldqpnfwcrg agkgtelagv tttgrggdmg nwtslpttpf atapweaagn rsnssgadgg
      181 dtpplpsppd kgdnasncdc rawdygirag lvqnvvskwd lvcdnawkvh iakfsllvgl
      241 ifgylitgci adwvgrrpvl lfsiifilif gltvalsvnv tmfstlrffe gfclagiilt
      301 lyalrielcp pgkrfmitmv asfvamagqf lmpglaalcr dwqvlqalii cpfllmllyw
      361 s
//
LOCUS       NP_001013417             198 aa            linear   PRI 30-DEC-2022
DEFINITION  cyclin-C isoform b [Homo sapiens].
ACCESSION   NP_001013417
VERSION     NP_001013417.1
DBSOURCE    REFSEQ: accession NM_001013399.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 198)
  AUTHORS   Lloyd RL, Urban V, Munoz-Martinez F, Ayestaran I, Thomas JC, de
            Renty C, O'Connor MJ, Forment JV, Galanty Y and Jackson SP.
  TITLE     Loss of Cyclin C or CDK8 provides ATR inhibitor resistance by
            suppressing transcription-associated replication stress
  JOURNAL   Nucleic Acids Res 49 (15), 8665-8683 (2021)
   PUBMED   34329458
  REMARK    GeneRIF: Loss of Cyclin C or CDK8 provides ATR inhibitor resistance
            by suppressing transcription-associated replication stress.
REFERENCE   2  (residues 1 to 198)
  AUTHORS   Tang M, Pei G, Su D, Wang C, Feng X, Srivastava M, Chen Z, Zhao Z
            and Chen J.
  TITLE     Genome-wide CRISPR screens reveal cyclin C as synthetic survival
            target of BRCA2
  JOURNAL   Nucleic Acids Res 49 (13), 7476-7491 (2021)
   PUBMED   34197614
  REMARK    GeneRIF: Genome-wide CRISPR screens reveal cyclin C as synthetic
            survival target of BRCA2.
REFERENCE   3  (residues 1 to 198)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 198)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   5  (residues 1 to 198)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 198)
  AUTHORS   Tassan JP, Jaquenoud M, Leopold P, Schultz SJ and Nigg EA.
  TITLE     Identification of human cyclin-dependent kinase 8, a putative
            protein kinase partner for cyclin C
  JOURNAL   Proc Natl Acad Sci U S A 92 (19), 8871-8875 (1995)
   PUBMED   7568034
REFERENCE   7  (residues 1 to 198)
  AUTHORS   Yoshizumi M, Lee WS, Hsieh CM, Tsai JC, Li J, Perrella MA,
            Patterson C, Endege WO, Schlegel R and Lee ME.
  TITLE     Disappearance of cyclin A correlates with permanent withdrawal of
            cardiomyocytes from the cell cycle in human and rat hearts
  JOURNAL   J Clin Invest 95 (5), 2275-2280 (1995)
   PUBMED   7738192
REFERENCE   8  (residues 1 to 198)
  AUTHORS   Demetrick DJ, Matsumoto S, Hannon GJ, Okamoto K, Xiong Y, Zhang H
            and Beach DH.
  TITLE     Chromosomal mapping of the genes for the human cell cycle proteins
            cyclin C (CCNC), cyclin E (CCNE), p21 (CDKN1) and KAP (CDKN3)
  JOURNAL   Cytogenet Cell Genet 69 (3-4), 190-192 (1995)
   PUBMED   7698009
REFERENCE   9  (residues 1 to 198)
  AUTHORS   Lew DJ, Dulic V and Reed SI.
  TITLE     Isolation of three novel human cyclins by rescue of G1 cyclin (Cln)
            function in yeast
  JOURNAL   Cell 66 (6), 1197-1206 (1991)
   PUBMED   1833066
REFERENCE   10 (residues 1 to 198)
  AUTHORS   Nozawa,T., Hatano,M., Yamamoto,H. and Kwan,T.
  TITLE     Magnetic circular dichroism on the reversible oxygenation of
            dimethylmesoporphyrin-IX-atopyridinecobalt (II)
  JOURNAL   Bioinorg Chem 5 (3), 267-273 (1976)
   PUBMED   1260071
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM788717.1 and BC056153.1.
            
            Summary: The protein encoded by this gene is a member of the cyclin
            family of proteins. The encoded protein interacts with
            cyclin-dependent kinase 8 and induces the phophorylation of the
            carboxy-terminal domain of the large subunit of RNA polymerase II.
            The level of mRNAs for this gene peaks in the G1 phase of the cell
            cycle. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            compared to variant 1, that results in the use of a downstream
            translational start codon. The resulting isoform (b) is shorter at
            the N-terminus compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.642215.1,
                                           SRR14038192.4123491.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q16.2"
     Protein         1..198
                     /product="cyclin-C isoform b"
                     /note="SRB11 homolog"
                     /calculated_mol_wt=22814
     Region          <1..61
                     /region_name="CYCLIN_SF"
                     /note="Cyclin box fold superfamily; cl40454"
                     /db_xref="CDD:454757"
     Region          69..160
                     /region_name="CYCLIN_CCNC_rpt2"
                     /note="second cyclin box found in cyclin-C (CCNC) and
                     similar proteins; cd20514"
                     /db_xref="CDD:410218"
     CDS             1..198
                     /gene="CCNC"
                     /gene_synonym="CycC; hSRB11; SRB11"
                     /coded_by="NM_001013399.2:321..917"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS47461.1"
                     /db_xref="GeneID:892"
                     /db_xref="HGNC:HGNC:1581"
                     /db_xref="MIM:123838"
ORIGIN      
        1 maptcvflas kveefgvvsn trliaaatsv lktrfsyafp kefpyrmnhi lecefyllel
       61 mdcclivyhp yrpllqyvqd mgqedmllpl awrivndtyr tdlcllyppf mialaclhva
      121 cvvqqkdarq wfaelsvdme kileiirvil klyeqwknfd erkematils kmpkpkpppn
      181 segeqgpngs qnssysqs
//
LOCUS       NP_001017370             280 aa            linear   PRI 31-DEC-2022
DEFINITION  NHL repeat-containing protein 3 isoform b [Homo sapiens].
ACCESSION   NP_001017370
VERSION     NP_001017370.1
DBSOURCE    REFSEQ: accession NM_001017370.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 280)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX647872.1, BC140877.1,
            AL445590.4 and CR749318.1.
            
            Summary: This gene encodes a protein containing NCL-1, HT2A and
            Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing
            proteins may be involved in a variety of enzymatic processes,
            including protein modification through ubiquitination.
            Alternatively spliced transcript variants have been observed for
            this gene. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            coding region, compared to variant 1. The encoded isoform (b) is
            shorter than isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR749318.1, BX647872.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..280
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.3"
     Protein         1..280
                     /product="NHL repeat-containing protein 3 isoform b"
                     /note="NHL repeat-containing protein 3"
                     /calculated_mol_wt=30923
     Region          <61..269
                     /region_name="NHL"
                     /note="NHL repeat unit of beta-propeller proteins;
                     cl18310"
                     /db_xref="CDD:302697"
     Region          66..138
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          146..183
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          241..268
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     CDS             1..280
                     /gene="NHLRC3"
                     /coded_by="NM_001017370.3:185..1027"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS31962.1"
                     /db_xref="GeneID:387921"
                     /db_xref="HGNC:HGNC:33751"
ORIGIN      
        1 marfwvcvag agfflaflvl hsrfcgspvl rnftfavswr tekilyrldv gwpkhpeyft
       61 gttfcvavds lnglvyigqr gdnipkilvf tedgyflraw nytvdtphgi faastlyeqs
      121 vwitdvgsdf milwlhgeng tgpakfniph svtldsagrv wvadrgnkri qvfdkdtgew
      181 lgawnncfte egpssvrftp dgkylivaql nlsrlsvvaa ppvgsigecs vistiqladq
      241 vlphllevdr ktgavyvaei gakqvqkyvp lnsyvpsfgs
//
LOCUS       NP_001153509             734 aa            linear   PRI 22-JAN-2023
DEFINITION  rho-related BTB domain-containing protein 2 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001153509
VERSION     NP_001153509.1
DBSOURCE    REFSEQ: accession NM_001160037.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 734)
  AUTHORS   Jove Blanco A, Lorente Romero J, Barredo Valderrama E and Castro de
            Castro P.
  TITLE     Mild head trauma: Acute encephalopathy trigger in children with
            RHOBTB2 de novo mutation
  JOURNAL   Neurologia (Engl Ed) 37 (8), 702-703 (2022)
   PUBMED   36195378
  REMARK    GeneRIF: Mild head trauma: Acute encephalopathy trigger in children
            with RHOBTB2 de novo mutation.
REFERENCE   2  (residues 1 to 734)
  AUTHORS   Liu P, Ma Q, Chen H, Zhang L and Zhang X.
  TITLE     Identification of RHOBTB2 aberration as an independent prognostic
            indicator in acute myeloid leukemia
  JOURNAL   Aging (Albany NY) 13 (11), 15269-15284 (2021)
   PUBMED   34074803
  REMARK    GeneRIF: Identification of RHOBTB2 aberration as an independent
            prognostic indicator in acute myeloid leukemia.
REFERENCE   3  (residues 1 to 734)
  AUTHORS   Zagaglia S, Steel D, Krithika S, Hernandez-Hernandez L, Custodio
            HM, Gorman KM, Vezyroglou A, Moller RS, King MD, Hammer TB, Spaull
            R, Fazeli W, Bartolomaeus T, Doummar D, Keren B, Mignot C, Bednarek
            N, Cross JH, Mallick AA, Sanchis-Juan A, Basu A, Raymond FL, Lynch
            BJ, Majumdar A, Stamberger H, Weckhuysen S, Sisodiya SM and Kurian
            MA.
  TITLE     RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating
            Hemiplegia of Childhood
  JOURNAL   Neurology 96 (11), e1539-e1550 (2021)
   PUBMED   33504645
  REMARK    GeneRIF: RHOBTB2 Mutations Expand the Phenotypic Spectrum of
            Alternating Hemiplegia of Childhood.
REFERENCE   4  (residues 1 to 734)
  AUTHORS   Straub J, Konrad EDH, Gruner J, Toutain A, Bok LA, Cho MT, Crawford
            HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA,
            Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR,
            Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M,
            Fliedner A, Gregor A, Sticht H and Zweier C.
  CONSRTM   Deciphering Developmental Disorders Study
  TITLE     Missense Variants in RHOBTB2 Cause a Developmental and Epileptic
            Encephalopathy in Humans, and Altered Levels Cause Neurological
            Defects in Drosophila
  JOURNAL   Am J Hum Genet 102 (1), 44-57 (2018)
   PUBMED   29276004
  REMARK    GeneRIF: missense variants in the BTB-domain-encoding region of
            RHOBTB2 as causative for a developmental and epileptic
            encephalopathy.
REFERENCE   5  (residues 1 to 734)
  AUTHORS   Choi YM, Kim KB, Lee JH, Chun YK, An IS, An S and Bae S.
  TITLE     DBC2/RhoBTB2 functions as a tumor suppressor protein via Musashi-2
            ubiquitination in breast cancer
  JOURNAL   Oncogene 36 (20), 2802-2812 (2017)
   PUBMED   27941885
  REMARK    GeneRIF: these findings provide evidence that DBC2 suppresses
            tumorigenesis in breast cancer by ubiquitinating MSI2.
REFERENCE   6  (residues 1 to 734)
  AUTHORS   Siripurapu V, Meth J, Kobayashi N and Hamaguchi M.
  TITLE     DBC2 significantly influences cell-cycle, apoptosis, cytoskeleton
            and membrane-trafficking pathways
  JOURNAL   J Mol Biol 346 (1), 83-89 (2005)
   PUBMED   15663929
  REMARK    GeneRIF: two networks were found to react substantially to DBC2
            expression--one of the networks regulates cell growth through
            cell-cycle control and apoptosis; the other network is related to
            cytoskeleton and membrane trafficking
REFERENCE   7  (residues 1 to 734)
  AUTHORS   Wilkins A, Ping Q and Carpenter CL.
  TITLE     RhoBTB2 is a substrate of the mammalian Cul3 ubiquitin ligase
            complex
  JOURNAL   Genes Dev 18 (8), 856-861 (2004)
   PUBMED   15107402
REFERENCE   8  (residues 1 to 734)
  AUTHORS   Hamaguchi M, Meth JL, von Klitzing C, Wei W, Esposito D, Rodgers L,
            Walsh T, Welcsh P, King MC and Wigler MH.
  TITLE     DBC2, a candidate for a tumor suppressor gene involved in breast
            cancer
  JOURNAL   Proc Natl Acad Sci U S A 99 (21), 13647-13652 (2002)
   PUBMED   12370419
  REMARK    GeneRIF: A previously uncharacterized gene, DBC2 (deleted in breast
            cancer), was cloned from a homozygously deleted region at human
            chromosome 8p21.
REFERENCE   9  (residues 1 to 734)
  AUTHORS   Ramos S, Khademi F, Somesh BP and Rivero F.
  TITLE     Genomic organization and expression profile of the small GTPases of
            the RhoBTB family in human and mouse
  JOURNAL   Gene 298 (2), 147-157 (2002)
   PUBMED   12426103
REFERENCE   10 (residues 1 to 734)
  AUTHORS   Rivero F, Dislich H, Glockner G and Noegel AA.
  TITLE     The Dictyostelium discoideum family of Rho-related proteins
  JOURNAL   Nucleic Acids Res 29 (5), 1068-1079 (2001)
   PUBMED   11222756
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC107959.8.
            
            Summary: The protein encoded by this gene is a small Rho GTPase and
            a candidate tumor suppressor. The encoded protein interacts with
            the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic
            cell division. This protein inhibits the growth and spread of some
            types of breast cancer. Three transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Nov 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.701104.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465405, SAMN03465407
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..734
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     Protein         1..734
                     /product="rho-related BTB domain-containing protein 2
                     isoform 2"
                     /note="rho-related BTB domain-containing protein 2;
                     deleted in breast cancer 2 gene protein"
                     /calculated_mol_wt=83339
     Region          20..214
                     /region_name="RhoBTB"
                     /note="RhoBTB protein is an atypical member of the Rho
                     family of small GTPases; cd01873"
                     /db_xref="CDD:133275"
     Site            order(23,59..60,64..65,67,69,86,90..91,93..95,101,104)
                     /site_type="other"
                     /note="putative GEF (guanine nucleotide exchange factor)
                     interaction site [polypeptide binding]"
                     /db_xref="CDD:133275"
     Site            28..35
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:133275"
     Site            order(31..36,91..92,94,148,150,197..198)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:133275"
     Site            58..64
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:133275"
     Site            59
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:133275"
     Site            order(60,93,101,103)
                     /site_type="active"
                     /note="putative GDI (guanine nucleotide dissociation
                     inhibitor) interaction [active]"
                     /db_xref="CDD:133275"
     Site            order(60..61,95,101)
                     /site_type="other"
                     /note="putative GAP (GTPase-activating protein)
                     interaction site [polypeptide binding]"
                     /db_xref="CDD:133275"
     Site            order(61..62,101,104)
                     /site_type="active"
                     /note="putative effector interaction site [active]"
                     /db_xref="CDD:133275"
     Site            91..94
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:133275"
     Site            order(94..95,101..104,107..109)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:133275"
     Site            147..150
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:133275"
     Site            196..198
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:133275"
     Region          257..482
                     /region_name="BTB1_POZ_RHOBTB2"
                     /note="first BTB (Broad-Complex, Tramtrack and Bric a
                     brac)/POZ (poxvirus and zinc finger) domain found in
                     Rho-related BTB domain-containing protein 2 (RhoBTB2);
                     cd18356"
                     /db_xref="CDD:349665"
     Region          487..610
                     /region_name="BTB2_POZ_RHOBTB2"
                     /note="second BTB (Broad-Complex, Tramtrack and Bric a
                     brac)/POZ (poxvirus and zinc finger) domain found in
                     Rho-related BTB domain-containing protein 2 (RhoBTB2);
                     cd18359"
                     /db_xref="CDD:349668"
     Region          615..711
                     /region_name="BACK_RHOBTB2"
                     /note="BACK (BTB and C-terminal Kelch) domain found in
                     Rho-related BTB domain-containing protein 2 (RhoBTB2);
                     cd18531"
                     /db_xref="CDD:350606"
     CDS             1..734
                     /gene="RHOBTB2"
                     /gene_synonym="DBC2; DEE64; EIEE64; p83"
                     /coded_by="NM_001160037.2:32..2236"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS55211.1"
                     /db_xref="GeneID:23221"
                     /db_xref="HGNC:HGNC:18756"
                     /db_xref="MIM:607352"
ORIGIN      
        1 mkarsrlmds dmdyerpnve tikcvvvgdn avgktrlica racnatltqy qllathvptv
       61 waidqyrvcq evlersrdvv ddvsvslrlw dtfgdhhkdr rfaygrsdvv vlcfsianpn
      121 slhhvktmwy peikhfcpra pvilvgcqld lryadleavn rarrplarpi kpneilppek
      181 grevakelgi pyyetsvvaq fgikdvfdna iraalisrrh lqfwkshlrn vqrpllqapf
      241 lppkppppii vvpdppssse ecpahlledp lcadvilvlq ervrifahki ylstssskfy
      301 dlflmdlseg elggpsepgg thpedhqghs dqhhhhhhhh hgrdfllraa sfdvcesvde
      361 aggsgpaglr astsdgilrg ngtgylpgrg rvlsswsraf vsiqeemaed pltyksrlmv
      421 vvkmdssiqp gpfravlkyl ytgeldener dlmhiahiae llevfdlrmm vanilnneaf
      481 mnqeitkafh vrrtnrvkec lakgtfsdvt filddgtisa hkpllisscd wmaamfggpf
      541 vesstrevvf pytskscmra vleylytgmf tsspdlddmk liilanrlcl phlvalteqy
      601 tvtglmeatq mmvdidgdvl vflelaqfhc ayqladwclh hictnynnvc rkfprdmkam
      661 spenqeyfek hrwppvwylk eedhyqrark erekedylhl krqpkrrwlf wnspsspsss
      721 aasssspsss savv
//
LOCUS       NP_060101               1712 aa            linear   PRI 29-JAN-2023
DEFINITION  probable ATP-dependent RNA helicase DDX60 isoform 1 [Homo sapiens].
ACCESSION   NP_060101
VERSION     NP_060101.3
DBSOURCE    REFSEQ: accession NM_017631.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1712)
  AUTHORS   Chen W, Li ZY, Huang L, Zhou DH, Luo WQ, Zhang XF, Li L, Wen CP and
            Wang Q.
  TITLE     Integrative Bioinformatics Analysis Identifies DDX60 as a Potential
            Biomarker for Systemic Lupus Erythematosus
  JOURNAL   Dis Markers 2023, 8564650 (2023)
   PUBMED   36655136
  REMARK    GeneRIF: Integrative Bioinformatics Analysis Identifies DDX60 as a
            Potential Biomarker for Systemic Lupus Erythematosus.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1712)
  AUTHORS   Karasawa T, Sato R, Imaizumi T, Hashimoto S, Fujita M, Aizawa T,
            Tsugawa K, Kawaguchi S, Seya K, Terui K and Tanaka H.
  TITLE     Glomerular endothelial expression of type I IFN-stimulated gene,
            DExD/H-Box helicase 60 via toll-like receptor 3 signaling: possible
            involvement in the pathogenesis of lupus nephritis
  JOURNAL   Ren Fail 44 (1), 137-145 (2022)
   PUBMED   35392757
  REMARK    GeneRIF: Glomerular endothelial expression of type I IFN-stimulated
            gene, DExD/H-Box helicase 60 via toll-like receptor 3 signaling:
            possible involvement in the pathogenesis of lupus nephritis.
REFERENCE   3  (residues 1 to 1712)
  AUTHORS   Hubel P, Urban C, Bergant V, Schneider WM, Knauer B, Stukalov A,
            Scaturro P, Mann A, Brunotte L, Hoffmann HH, Schoggins JW,
            Schwemmle M, Mann M, Rice CM and Pichlmair A.
  TITLE     A protein-interaction network of interferon-stimulated genes
            extends the innate immune system landscape
  JOURNAL   Nat Immunol 20 (4), 493-502 (2019)
   PUBMED   30833792
REFERENCE   4  (residues 1 to 1712)
  AUTHORS   Fu TY, Wu CN, Sie HC, Cheng JT, Lin YS, Liou HH, Tseng YK, Shu CW,
            Tsai KW, Yen LM, Tseng HW, Tseng CJ, Ger LP and Liu PF.
  TITLE     Subsite-specific association of DEAD box RNA helicase DDX60 with
            the development and prognosis of oral squamous cell carcinoma
  JOURNAL   Oncotarget 7 (51), 85097-85108 (2016)
   PUBMED   27835882
  REMARK    GeneRIF: DDX60 is a novel and unfavorable biomarker for
            tumorigenesis and prognosis of oral squamous cell carcinoma in a
            subsite-specific manner
REFERENCE   5  (residues 1 to 1712)
  AUTHORS   Oshiumi H, Miyashita M, Okamoto M, Morioka Y, Okabe M, Matsumoto M
            and Seya T.
  TITLE     DDX60 Is Involved in RIG-I-Dependent and Independent Antiviral
            Responses, and Its Function Is Attenuated by Virus-Induced EGFR
            Activation
  JOURNAL   Cell Rep 11 (8), 1193-1207 (2015)
   PUBMED   25981042
  REMARK    GeneRIF: Results define DDX60 as a sentinel for cytoplasmic
            antiviral response, which is counteracted by virus-mediated EGF
            receptor activation.
REFERENCE   6  (residues 1 to 1712)
  AUTHORS   Miyashita M, Oshiumi H, Matsumoto M and Seya T.
  TITLE     DDX60, a DEXD/H box helicase, is a novel antiviral factor promoting
            RIG-I-like receptor-mediated signaling
  JOURNAL   Mol Cell Biol 31 (18), 3802-3819 (2011)
   PUBMED   21791617
  REMARK    GeneRIF: DDX60 is a novel antiviral helicase promoting RIG-I-like
            receptor-mediated signaling.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK307404.1, AK001649.1,
            BC038115.2, BC074781.2 and BC020601.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 6, 2009 this sequence version replaced NP_060101.2.
            
            Summary: DEAD box proteins, characterized by the conserved motif
            Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are
            implicated in a number of cellular procsses involving RNA binding
            and alteration of RNA secondary structure. This gene encodes a
            DEXD/H box RNA helicase that functions as an antiviral factor and
            promotes RIG-I-like receptor-mediated signaling. [provided by
            RefSeq, Apr 2017].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC038115.2, SRR1660807.174261.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393743.8/ ENSP00000377344.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1712
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.3"
     Protein         1..1712
                     /product="probable ATP-dependent RNA helicase DDX60
                     isoform 1"
                     /EC_number="3.6.4.13"
                     /note="probable ATP-dependent RNA helicase DDX60; DEAD box
                     protein 60; DEAD (Asp-Glu-Ala-Asp) box polypeptide 60;
                     DEAD-box helicase 60"
                     /calculated_mol_wt=197723
     Region          762..>1373
                     /region_name="Dob10"
                     /note="Superfamily II RNA helicase [Replication,
                     recombination and repair]; COG4581"
                     /db_xref="CDD:226947"
     Region          763..952
                     /region_name="DEXHc_DDX60"
                     /note="DEXH-box helicase domain of DEAD box protein 60;
                     cd18025"
                     /db_xref="CDD:350783"
     Site            order(763..765,768,787..793)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350783"
     Site            order(817..818,849,863,865..866,869,899)
                     /site_type="other"
                     /note="nucleic acid binding site [nucleotide binding]"
                     /db_xref="CDD:350783"
     Region          889..892
                     /region_name="DEVH box"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IY21.3)"
     CDS             1..1712
                     /gene="DDX60"
                     /coded_by="NM_017631.6:238..5376"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS34097.1"
                     /db_xref="GeneID:55601"
                     /db_xref="HGNC:HGNC:25942"
                     /db_xref="MIM:613974"
ORIGIN      
        1 mernvlttfs qemsqlilne mpkaeysslf ndfveseffl idgdsllitc iceisfkpgq
       61 nlhffylver ylvdliskgg qftivffkda eyayfnfpel lslrtalilh lqknttidvr
      121 ttfsrclske wgsfleesyp yflivadegl ndlqtqlfnf liihswarkv nvvlssgqes
      181 dvlclyayll psmyrhqifs wknkqnikda yttllnqler fklsalaplf gslkwnnite
      241 eahktvsllt qvwpegsdir rvfcvtscsl slrmyhrflg nrepssgqet eiqqvnsncl
      301 tlqemedlck lhcltvvfll hlplsqraca rvitshwaed mkpllqmkkw ceyfilrnih
      361 tfefwnlnli hlsdlndell lkniafyyen envkglhlnl gdtimkdyey lwntvsklvr
      421 dfevgqpfpl rttkvcflek kpspikdssn emvpnlgfip tssfvvdkfa gdilkdlpfl
      481 ksddpivtsl vkqkefdelv hwhshkplsd dydrsrcqfd eksrdprvlr svqkyhvfqr
      541 fygnsletvs skiivtqtik skkdfsgpks kkahetkaei iarenkkrlf areeqkeeqk
      601 wnalsfsiee qlkenlhsgi ksledflksc ksscvklqve mvgltaclka wkehcrseeg
      661 kttkdlsiav qvmkrihslm ekysellqed drqliarclk ylgfdelass lhpaqdaend
      721 vkvkkrnkys vgigparfql qymghylird erkdpdprvq dfipdtwqre lldvvdknes
      781 avivaptssg ktyasyycme kvlkesddgv vvyvaptkal vnqvaatvqn rftknlpsge
      841 vlcgvftrey rhdalncqvl itvpacfeil llaphrqnwv kkiryvifde vhclggeiga
      901 eiwehllvmi rcpflalsat isnpehltew lqsvkwywkq edkiiennta skrhvgrqag
      961 fpkdylqvkq sykvrlvlyg eryndlekhv csikhgdihf dhfhpcaalt tdhierygfp
     1021 pdltlspres iqlydamfqi wkswpraqel cpenfihfnn klvikkmdar kyeeslkael
     1081 tswikngnve qarmvlqnls peadlspenm itmfpllvek lrkmeklpal fflfklgave
     1141 naaesvstfl kkkqetkrpp kadkeahvma nklrkvkksi ekqkiideks qkktrnvdqs
     1201 liheaehdnl vkcleknlei pqdctyadqk avdtetlqkv fgrvkferkg eelkalaerg
     1261 igyhhsamsf kekqlveilf rkgylrvvta tgtlalgvnm pcksvvfaqn svyldalnyr
     1321 qmsgragrrg qdlmgdvyff dipfpkigkl iksnvpelrg hfplsitlvl rlmllaskgd
     1381 dpedakakvl svlkhsllsf kqprvmdmlk lyflfslqfl vkegyldqeg npmgfaglvs
     1441 hlhyhepsnl vfvsflvngl fhdlcqptrk gskhfsqdvm eklvlvlahl fgrryfppkf
     1501 qdahfefyqs kvflddlped fsdaldeynm kimedfttfl rivskladmn qeyqlplski
     1561 kftgkeceds qlvshlmsck egrvaispfv clsgnfdddl lrletpnhvt lgtigvnrsq
     1621 apvllsqkfd nrgrkmslna yaldfykhgs liglvqdnrm negdayyllk dfaltiksis
     1681 vslrelcene ddnvvlafeq lsttfwekln kv
//
LOCUS       NP_001397801             575 aa            linear   PRI 19-FEB-2023
DEFINITION  BMP-binding endothelial regulator protein isoform b [Homo sapiens].
ACCESSION   NP_001397801 XP_005249690
VERSION     NP_001397801.1
DBSOURCE    REFSEQ: accession NM_001410872.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 575)
  AUTHORS   Ji N and Yu Z.
  TITLE     IL-6/Stat3 suppresses osteogenic differentiation in ossification of
            the posterior longitudinal ligament via miR-135b-mediated BMPER
            reduction
  JOURNAL   Cell Tissue Res 391 (1), 145-157 (2023)
   PUBMED   36305971
  REMARK    GeneRIF: IL-6/Stat3 suppresses osteogenic differentiation in
            ossification of the posterior longitudinal ligament via
            miR-135b-mediated BMPER reduction.
REFERENCE   2  (residues 1 to 575)
  AUTHORS   Batey N, Spiller M and Balasubramanian M.
  TITLE     Further evidence for attenuated phenotype with variants in the
            BMPER gene causing DSD: Case report and literature review
  JOURNAL   Eur J Med Genet 65 (4), 104470 (2022)
   PUBMED   35240322
  REMARK    GeneRIF: Further evidence for attenuated phenotype with variants in
            the BMPER gene causing DSD: Case report and literature review.
            Review article
REFERENCE   3  (residues 1 to 575)
  AUTHORS   Ding P, Chen W, Yan X, Zhang J, Li C, Zhang G, Wang Y and Li Y.
  TITLE     BMPER alleviates ischemic brain injury by protecting neurons and
            inhibiting neuroinflammation via Smad3-Akt-Nrf2 pathway
  JOURNAL   CNS Neurosci Ther 28 (4), 593-607 (2022)
   PUBMED   34904361
  REMARK    GeneRIF: BMPER alleviates ischemic brain injury by protecting
            neurons and inhibiting neuroinflammation via Smad3-Akt-Nrf2
            pathway.
REFERENCE   4  (residues 1 to 575)
  AUTHORS   Braun F, Gangfuss A, Stobe P, Haack TB, Schweiger B, Roos A and
            Schara U.
  TITLE     Expansion of the mutational spectrum of BMPER leading to
            diaphanospondylodysostosis and description of the associated
            disease process
  JOURNAL   Mol Genet Genomic Med 9 (12), e1767 (2021)
   PUBMED   34288564
  REMARK    GeneRIF: Expansion of the mutational spectrum of BMPER leading to
            diaphanospondylodysostosis and description of the associated
            disease process.
REFERENCE   5  (residues 1 to 575)
  AUTHORS   Wu Y, Jia G, Chi H, Jiao Z and Sun Y.
  TITLE     Integrated In Silico-In Vitro Identification and Optimization of
            Bone Morphogenic Protein-2 Armpit Epitope as Its Antagonist Binding
            Site
  JOURNAL   Protein J 39 (6), 703-710 (2020)
   PUBMED   33130958
  REMARK    GeneRIF: Integrated In Silico-In Vitro Identification and
            Optimization of Bone Morphogenic Protein-2 Armpit Epitope as Its
            Antagonist Binding Site.
REFERENCE   6  (residues 1 to 575)
  AUTHORS   Ben-Neriah Z, Michaelson-Cohen R, Inbar-Feigenberg M, Nadjari M,
            Zeligson S, Shaag A, Zenvirt S, Elpeleg O and Levy-Lahad E.
  TITLE     A deleterious founder mutation in the BMPER gene causes
            diaphanospondylodysostosis (DSD)
  JOURNAL   Am J Med Genet A 155A (11), 2801-2806 (2011)
   PUBMED   21990102
  REMARK    GeneRIF: Diaphonospondylodysostosis is caused by loss of BMPER
            function.
REFERENCE   7  (residues 1 to 575)
  AUTHORS   Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N,
            Wilcox WR, Rimoin DL, Nelson SF and Cohn DH.
  TITLE     BMPER mutation in diaphanospondylodysostosis identified by
            ancestral autozygosity mapping and targeted high-throughput
            sequencing
  JOURNAL   Am J Hum Genet 87 (4), 532-537 (2010)
   PUBMED   20869035
  REMARK    GeneRIF: BMPER-mediated signaling plays an essential role in
            vertebral segmentation early in human development, while defects in
            BMPER produce Diaphanospondylodysostosis.
REFERENCE   8  (residues 1 to 575)
  AUTHORS   Heinke J, Wehofsits L, Zhou Q, Zoeller C, Baar KM, Helbing T, Laib
            A, Augustin H, Bode C, Patterson C and Moser M.
  TITLE     BMPER is an endothelial cell regulator and controls bone
            morphogenetic protein-4-dependent angiogenesis
  JOURNAL   Circ Res 103 (8), 804-812 (2008)
   PUBMED   18787191
  REMARK    GeneRIF: BMPER is an endothelial cell regulator and controls bone
            morphogenetic protein-4-dependent angiogenesis.
REFERENCE   9  (residues 1 to 575)
  AUTHORS   Binnerts ME, Wen X, Cante-Barrett K, Bright J, Chen HT, Asundi V,
            Sattari P, Tang T, Boyle B, Funk W and Rupp F.
  TITLE     Human Crossveinless-2 is a novel inhibitor of bone morphogenetic
            proteins
  JOURNAL   Biochem Biophys Res Commun 315 (2), 272-280 (2004)
   PUBMED   14766204
  REMARK    GeneRIF: Crossveinless-2 is an inhibitor of BMP function
REFERENCE   10 (residues 1 to 575)
  AUTHORS   Moser M, Binder O, Wu Y, Aitsebaomo J, Ren R, Bode C, Bautch VL,
            Conlon FL and Patterson C.
  TITLE     BMPER, a novel endothelial cell precursor-derived protein,
            antagonizes bone morphogenetic protein signaling and endothelial
            cell differentiation
  JOURNAL   Mol Cell Biol 23 (16), 5664-5679 (2003)
   PUBMED   12897139
  REMARK    GeneRIF: BMPER is a novel BMP-binding protein that is expressed by
            endothelial cell precursors, has BMP-antagonizing activity, and may
            play a role in endothelial cell differentiation by modulating local
            BMP activity
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010002.6 and AC007350.1.
            On Aug 17, 2022 this sequence version replaced XP_005249690.1.
            
            Summary: This gene encodes a secreted protein that interacts with,
            and inhibits bone morphogenetic protein (BMP) function. It has been
            shown to inhibit BMP2- and BMP4-dependent osteoblast
            differentiation and BMP-dependent differentiation of the
            chondrogenic cells. Mutations in this gene are associated with a
            lethal skeletal disorder, diaphanospondylodysostosis. [provided by
            RefSeq, Dec 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.23977.1,
                                           SRR14038191.918947.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142586, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..575
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     Protein         1..575
                     /product="BMP-binding endothelial regulator protein
                     isoform b"
                     /note="crossveinless 2; BMP-binding endothelial regulator
                     precursor protein; bone morphogenetic protein-binding
                     endothelial cell precursor-derived regulator"
                     /calculated_mol_wt=63497
     Site            116
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N8U9.3)"
     Region          166..224
                     /region_name="VWC"
                     /note="von Willebrand factor type C domain; pfam00093"
                     /db_xref="CDD:278520"
     Site            247
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N8U9.3)"
     Site            255
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N8U9.3)"
     Region          301..357
                     /region_name="VWC"
                     /note="von Willebrand factor type C domain; cl17735"
                     /db_xref="CDD:450195"
     Site            318
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N8U9.3)"
     Region          <360..398
                     /region_name="VWD"
                     /note="von Willebrand factor type D domain; cl02516"
                     /db_xref="CDD:445809"
     Region          450..514
                     /region_name="C8"
                     /note="C8 domain; pfam08742"
                     /db_xref="CDD:430184"
     Region          519..572
                     /region_name="TIL"
                     /note="trypsin inhibitor-like cysteine rich domain;
                     cd19941"
                     /db_xref="CDD:410995"
     Site            order(528,532,545,549)
                     /site_type="other"
                     /note="reactive site [polypeptide binding]"
                     /db_xref="CDD:410995"
     CDS             1..575
                     /gene="BMPER"
                     /gene_synonym="CRIM3; CV-2; CV2"
                     /coded_by="NM_001410872.1:76..1803"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS94083.1"
                     /db_xref="GeneID:168667"
                     /db_xref="HGNC:HGNC:24154"
                     /db_xref="MIM:608699"
ORIGIN      
        1 mlwfsgvgal aerycrrspg itccvlllln csgvpmslas sfltgsvakc enegevlqip
       61 fitdnpcimc vclnkevtck rekcpvlsrd calaikqrga cceqckgcty egntynssfk
      121 wqspaepcvl rqcqegvvte sgvrcvvhck nplehlgmcc ptcpgcvfeg vqyqegeefq
      181 pegskctkcs ctggrtqcvr evcpilscpq hlshippgqc cpkclgqrkv fdlpfgsclf
      241 rsdvydngss flydnctact crdstvvckr kcshpggcdq gqegcceecl lrvppedikv
      301 ckfgnkifqd gemwssinct icacvkgrte crnkqcipis scpqgkilnr kgccpictes
      361 leiswdgdsf vevmaaphlk gklcglcgny nghkrddlig gdgnfkfdvd dfaeswrves
      421 nefcnrpqrk pvpelcqgtv kvklrahrec qklkswefqt chstvdyatf yrscvtdmce
      481 cpvhkncyce sflaytracq regikvhwep qqncaatqck hgavydtcgp gciktcdnwn
      541 eigpcnkpcv agchcpanlv lhkgrcikpv lcpqr
//
LOCUS       NP_001400304             695 aa            linear   PRI 26-FEB-2023
DEFINITION  short transient receptor potential channel 1 isoform 7 [Homo
            sapiens].
ACCESSION   NP_001400304 XP_005247795
VERSION     NP_001400304.1
DBSOURCE    REFSEQ: accession NM_001413375.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 695)
  AUTHORS   Qi H, Wu F and Wang H.
  TITLE     Function of TRPC1 in modulating hepatocellular carcinoma
            progression
  JOURNAL   Med Oncol 40 (3), 97 (2023)
   PUBMED   36797544
  REMARK    GeneRIF: Function of TRPC1 in modulating hepatocellular carcinoma
            progression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 695)
  AUTHORS   Radoslavova S, Fels B, Petho Z, Gruner M, Ruck T, Meuth SG, Folcher
            A, Prevarskaya N, Schwab A and Ouadid-Ahidouch H.
  TITLE     TRPC1 channels regulate the activation of pancreatic stellate cells
            through ERK1/2 and SMAD2 pathways and perpetuate their
            pressure-mediated activation
  JOURNAL   Cell Calcium 106, 102621 (2022)
   PUBMED   35905654
  REMARK    GeneRIF: TRPC1 channels regulate the activation of pancreatic
            stellate cells through ERK1/2 and SMAD2 pathways and perpetuate
            their pressure-mediated activation.
REFERENCE   3  (residues 1 to 695)
  AUTHORS   Wan H, Gao N, Lu W, Lu C, Chen J, Wang Y and Dong H.
  TITLE     NCX1 coupled with TRPC1 to promote gastric cancer via
            Ca2+/AKT/beta-catenin pathway
  JOURNAL   Oncogene 41 (35), 4169-4182 (2022)
   PUBMED   35882979
  REMARK    GeneRIF: NCX1 coupled with TRPC1 to promote gastric cancer via
            Ca(2+)/AKT/beta-catenin pathway.
REFERENCE   4  (residues 1 to 695)
  AUTHORS   Schnipper J, Kouba S, Hague F, Girault A, Rybarczyk P, Telliez MS,
            Guenin S, Tebbakha R, Sevestre H, Ahidouch A, Pedersen SF and
            Ouadid-Ahidouch H.
  TITLE     The TRPC1 Channel Forms a PI3K/CaM Complex and Regulates Pancreatic
            Ductal Adenocarcinoma Cell Proliferation in a Ca2+-Independent
            Manner
  JOURNAL   Int J Mol Sci 23 (14), 7923 (2022)
   PUBMED   35887266
  REMARK    GeneRIF: The TRPC1 Channel Forms a PI3K/CaM Complex and Regulates
            Pancreatic Ductal Adenocarcinoma Cell Proliferation in a
            Ca(2+)-Independent Manner.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 695)
  AUTHORS   Ke C and Long S.
  TITLE     Dysregulated transient receptor potential channel 1 expression and
            its correlation with clinical features and survival profile in
            surgical non-small-cell lung cancer patients
  JOURNAL   J Clin Lab Anal 36 (3), e24229 (2022)
   PUBMED   35106847
  REMARK    GeneRIF: Dysregulated transient receptor potential channel 1
            expression and its correlation with clinical features and survival
            profile in surgical non-small-cell lung cancer patients.
REFERENCE   6  (residues 1 to 695)
  AUTHORS   Zitt C, Zobel A, Obukhov AG, Harteneck C, Kalkbrenner F, Luckhoff A
            and Schultz G.
  TITLE     Cloning and functional expression of a human Ca2+-permeable cation
            channel activated by calcium store depletion
  JOURNAL   Neuron 16 (6), 1189-1196 (1996)
   PUBMED   8663995
REFERENCE   7  (residues 1 to 695)
  AUTHORS   Zhu X, Jiang M, Peyton M, Boulay G, Hurst R, Stefani E and
            Birnbaumer L.
  TITLE     trp, a novel mammalian gene family essential for agonist-activated
            capacitative Ca2+ entry
  JOURNAL   Cell 85 (5), 661-671 (1996)
   PUBMED   8646775
REFERENCE   8  (residues 1 to 695)
  AUTHORS   Zhu X, Chu PB, Peyton M and Birnbaumer L.
  TITLE     Molecular cloning of a widely expressed human homologue for the
            Drosophila trp gene
  JOURNAL   FEBS Lett 373 (3), 193-198 (1995)
   PUBMED   7589464
REFERENCE   9  (residues 1 to 695)
  AUTHORS   Wes PD, Chevesich J, Jeromin A, Rosenberg C, Stetten G and Montell
            C.
  TITLE     TRPC1, a human homolog of a Drosophila store-operated channel
  JOURNAL   Proc Natl Acad Sci U S A 92 (21), 9652-9656 (1995)
   PUBMED   7568191
REFERENCE   10 (residues 1 to 695)
  AUTHORS   Abdel-Malek Z, Swope V, Collins C, Boissy R, Zhao H and Nordlund J.
  TITLE     Contribution of melanogenic proteins to the heterogeneous
            pigmentation of human melanocytes
  JOURNAL   J Cell Sci 106 (Pt 4), 1323-1331 (1993)
   PUBMED   8126111
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC072028.14 and AC022291.27.
            On Oct 31, 2022 this sequence version replaced XP_005247795.1.
            
            Summary: The protein encoded by this gene is a membrane protein
            that can form a non-selective channel permeable to calcium and
            other cations. The encoded protein appears to be induced to form
            channels by a receptor tyrosine kinase-activated
            phosphatidylinositol second messenger system and also by depletion
            of intracellular calcium stores. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.944647.1,
                                           SRR18074967.3622403.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..695
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q23"
     Protein         1..695
                     /product="short transient receptor potential channel 1
                     isoform 7"
                     /note="short transient receptor potential channel 1;
                     transient receptor potential canonical 1; transient
                     receptor protein 1; capacitative calcium channel protein
                     Trp1"
                     /calculated_mol_wt=80588
     Region          14..676
                     /region_name="TRPV"
                     /note="Transient Receptor Potential channel, Vanilloid
                     subfamily (TRPV); cl40437"
                     /db_xref="CDD:454755"
     CDS             1..695
                     /gene="TRPC1"
                     /gene_synonym="HTRP-1; TRP1"
                     /coded_by="NM_001413375.1:666..2753"
                     /note="isoform 7 is encoded by transcript variant 7"
                     /db_xref="GeneID:7220"
                     /db_xref="HGNC:HGNC:12333"
                     /db_xref="MIM:602343"
ORIGIN      
        1 mrsfscwrat rsadallvai dsevvgavdi llnhrpkrss rptivklmer iqnpeysttm
       61 dvapvilaah rnnyeiltml lkqdvslpkp havgcectlc saknkkdslr hsrfrldiyr
      121 claspaliml teedpilraf elsadlkels lvevefrndy eelarqckmf akdllaqarn
      181 srelevilnh tssdepldkr glleermnls rlklaikynq kefvsqsncq qflntvwfgq
      241 msgyrrkptc kkimtvltvg ifwpvlslcy liapksqfgr iihtpfmkfi ihgasyftfl
      301 lllnlyslvy nedkkntmgp aleridylli lwiigmiwsd ikrlwyegle dfleesrnql
      361 sfvmnslyla tfalkvvahn kfhdfadrkd wdafhptlva eglfafanvl sylrlffmyt
      421 tssilgplqi smgqmlqdfg kflgmfllvl fsftigltql ydkgytskeq kdcvgifceq
      481 qsndtfhsfi gtcfalfwyi fslahvaifv trfsygeelq sfvgavivgt ynvvvvivlt
      541 kllvamlhks fqlianhedk ewkfaraklw lsyfddkctl pppfniipsp kticymissl
      601 skwicshtsk gkvkrqnslk ewrnlkqkrd enyqkvmccl vhryltsmrq kmqstdqatv
      661 enlnelrqdl skfrneirdl lgfrtskyam fyprn
//
LOCUS       NP_872600               1240 aa            linear   PRI 05-MAR-2023
DEFINITION  histone demethylase UTY isoform 2 [Homo sapiens].
ACCESSION   NP_872600
VERSION     NP_872600.1
DBSOURCE    REFSEQ: accession NM_182659.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1240)
  AUTHORS   Cunningham CM, Li M, Ruffenach G, Doshi M, Aryan L, Hong J, Park J,
            Hrncir H, Medzikovic L, Umar S, Arnold AP and Eghbali M.
  TITLE     Y-Chromosome Gene, Uty, Protects Against Pulmonary Hypertension by
            Reducing Proinflammatory Chemokines
  JOURNAL   Am J Respir Crit Care Med 206 (2), 186-196 (2022)
   PUBMED   35504005
  REMARK    GeneRIF: Y-Chromosome Gene, Uty, Protects Against Pulmonary
            Hypertension by Reducing Proinflammatory Chemokines.
REFERENCE   2  (residues 1 to 1240)
  AUTHORS   Pottmeier P, Doszyn O, Peuckert C and Jazin E.
  TITLE     Increased Expression of Y-Encoded Demethylases During
            Differentiation of Human Male Neural Stem Cells
  JOURNAL   Stem Cells Dev 29 (23), 1497-1509 (2020)
   PUBMED   33040644
  REMARK    GeneRIF: Increased Expression of Y-Encoded Demethylases During
            Differentiation of Human Male Neural Stem Cells.
REFERENCE   3  (residues 1 to 1240)
  AUTHORS   Tricarico R, Nicolas E, Hall MJ and Golemis EA.
  TITLE     X- and Y-Linked Chromatin-Modifying Genes as Regulators of
            Sex-Specific Cancer Incidence and Prognosis
  JOURNAL   Clin Cancer Res 26 (21), 5567-5578 (2020)
   PUBMED   32732223
  REMARK    GeneRIF: X- and Y-Linked Chromatin-Modifying Genes as Regulators of
            Sex-Specific Cancer Incidence and Prognosis.
            Review article
REFERENCE   4  (residues 1 to 1240)
  AUTHORS   Fan Z, Zhao W, Fan S, Li C, Qiao J and Xu Y.
  TITLE     Identification of Potential Biomarkers for Intervertebral Disc
            Degeneration Using the Genome-Wide Expression Analysis
  JOURNAL   J Comput Biol 27 (9), 1341-1349 (2020)
   PUBMED   31904996
  REMARK    GeneRIF: Identification of Potential Biomarkers for Intervertebral
            Disc Degeneration Using the Genome-Wide Expression Analysis.
REFERENCE   5  (residues 1 to 1240)
  AUTHORS   Gazova I, Lengeling A and Summers KM.
  TITLE     Lysine demethylases KDM6A and UTY: The X and Y of histone
            demethylation
  JOURNAL   Mol Genet Metab 127 (1), 31-44 (2019)
   PUBMED   31097364
  REMARK    GeneRIF: UTY is co-regulated with KDM6A. UTY compensates for KDM6A
            in eutherian males and is responsible for the association between
            the loss of the Y chromosome and poor prognosis in a range of
            cancers. [review]
            Review article
REFERENCE   6  (residues 1 to 1240)
  AUTHORS   Laaser I, Theis FJ, de Angelis MH, Kolb HJ and Adamski J.
  TITLE     Huge splicing frequency in human Y chromosomal UTY gene
  JOURNAL   OMICS 15 (3), 141-154 (2011)
   PUBMED   21329462
REFERENCE   7  (residues 1 to 1240)
  AUTHORS   Warren EH, Gavin MA, Simpson E, Chandler P, Page DC, Disteche C,
            Stankey KA, Greenberg PD and Riddell SR.
  TITLE     The human UTY gene encodes a novel HLA-B8-restricted H-Y antigen
  JOURNAL   J Immunol 164 (5), 2807-2814 (2000)
   PUBMED   10679124
REFERENCE   8  (residues 1 to 1240)
  AUTHORS   Grbavec D, Lo R, Liu Y, Greenfield A and Stifani S.
  TITLE     Groucho/transducin-like enhancer of split (TLE) family members
            interact with the yeast transcriptional co-repressor SSN6 and
            mammalian SSN6-related proteins: implications for evolutionary
            conservation of transcription repression mechanisms
  JOURNAL   Biochem J 337 (Pt 1) (Pt 1), 13-17 (1999)
   PUBMED   9854018
REFERENCE   9  (residues 1 to 1240)
  AUTHORS   Greenfield A, Carrel L, Pennisi D, Philippe C, Quaderi N, Siggers
            P, Steiner K, Tam PP, Monaco AP, Willard HF and Koopman P.
  TITLE     The UTX gene escapes X inactivation in mice and humans
  JOURNAL   Hum Mol Genet 7 (4), 737-742 (1998)
   PUBMED   9499428
REFERENCE   10 (residues 1 to 1240)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Functional coherence of the human Y chromosome
  JOURNAL   Science 278 (5338), 675-680 (1997)
   PUBMED   9381176
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF000995.1.
            
            Summary: This gene encodes a protein containing tetratricopeptide
            repeats which are thought to be involved in protein-protein
            interactions. The encoded protein is also a minor
            histocompatibility antigen which may induce graft rejection of male
            stem cell grafts. A large number of alternatively spliced
            transcripts have been observed for this gene, but the full length
            nature of some of these variants has not been determined. [provided
            by RefSeq, Apr 2012].
            
            Transcript Variant: This variant (2) has multiple differences
            compared to variant 4, including the use of an alternate 3' UTR.
            The encoded isoform (2) is shorter than isoform 4.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF000995.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.221"
     Protein         1..1240
                     /product="histone demethylase UTY isoform 2"
                     /EC_number="1.14.11.68"
                     /note="ubiquitously transcribed tetratricopeptide repeat
                     gene, Y chromosome; ubiquitously transcribed TPR gene on Y
                     chromosome; histone demethylase UTY; [histone
                     H3]-trimethyl-L-lysine(27) demethylase UTY; ubiquitous TPR
                     motif protein UTY; ubiquitously-transcribed TPR protein on
                     the Y chromosome; ubiquitously-transcribed Y chromosome
                     tetratricopeptide repeat protein; ubiquitously transcribed
                     tetratricopeptide repeat gene, Y-linked"
                     /calculated_mol_wt=137082
     Region          90..123
                     /region_name="TPR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (O14607.2)"
     Region          90..118
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(91,94..95,98..99,101,128,131..132,135..136,138..139,
                     162,168..169,172..173,176)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          103..375
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          126..156
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          127..160
                     /region_name="TPR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (O14607.2)"
     Region          161..191
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          167..196
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (O14607.2)"
     Region          202..235
                     /region_name="TPR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (O14607.2)"
     Region          202..230
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          240..275
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          247..280
                     /region_name="TPR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (O14607.2)"
     Region          281..314
                     /region_name="TPR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (O14607.2)"
     Site            order(282,285..286,289..290,292,316,319..320,323..324,
                     326..327,350,353..354,357..358,361)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          282..309
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          314..344
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          315..348
                     /region_name="TPR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (O14607.2)"
     Region          349..382
                     /region_name="TPR 8"
                     /note="propagated from UniProtKB/Swiss-Prot (O14607.2)"
     Region          349..377
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          571..621
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14607.2)"
     Region          633..689
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14607.2)"
     Region          757..819
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14607.2)"
     Site            887
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:24798337; propagated from
                     UniProtKB/Swiss-Prot (O14607.2)"
     Region          990..1026
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14607.2)"
     Region          1046..1110
                     /region_name="JmjC"
                     /note="A domain family that is part of the cupin
                     metalloenzyme superfamily; smart00558"
                     /db_xref="CDD:214721"
     Region          1080..1188
                     /region_name="JmjC"
                     /note="JmjC domain, hydroxylase; pfam02373"
                     /db_xref="CDD:396791"
     CDS             1..1240
                     /gene="UTY"
                     /gene_synonym="KDM6AL; KDM6C; UTY1"
                     /coded_by="NM_182659.1:1006..4728"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS14784.1"
                     /db_xref="GeneID:7404"
                     /db_xref="HGNC:HGNC:12638"
                     /db_xref="MIM:400009"
ORIGIN      
        1 mkscavsltt aavafgdeak kmaegkasre seeesvsltv eerealggmd srlfgfvrlh
       61 edgartktll gkavrcyesl ilkaegkves dffcqlghfn llledyskal sayqryyslq
      121 adywknaafl yglglvyfyy nafhwaikaf qdvlyvdpsf crakeihlrl glmfkvntdy
      181 ksslkhfqla lidcnpctls naeiqfhiah lyetqrkyhs akeayeqllq tenlpaqvka
      241 tvlqqlgwmh hnmdlvgdka tkesyaiqyl qksleadpns gqswyflgrc yssigkvqda
      301 fisyrqsidk seasadtwcs igvlyqqqnq pmdalqayic avqldhghaa awmdlgtlye
      361 scnqpqdaik cylnaarskr csntstlaar ikflqngsdn wnggqslshh pvqqvyslcl
      421 tpqklqhleq lranrdnlnp aqkhqleqle sqfvlmqqmr hkevaqvrtt gihngaitds
      481 slptnsvsnr qphgaltrvs svsqpgvrpa cvekllssga fsagcipcgt skilgstdti
      541 llgsnciags esngnvpylq qnthtlphnh tdlnssteep wrkqlsnsaq glhksqsscl
      601 sgpneeqplf stgsaqyhqa tstgikkane hltlpsnsvp qgdadshlsc htatsggqqg
      661 imftkeskps knrslvpets rhtgdtsngc advkglsnhv hqliadavss pnhgdspnll
      721 iadnpqlsal ligkangnvg tgtcdkvnni hpavhtktdh svasspssai statpspkst
      781 eqrsinsvts lnsphsglht vngeglgksq sstkvdlpla shrstsqilp smsvsicpss
      841 tevlkacrnp gknglsnsci lldkcppprp ptspypplpk dklnpptpsi ylenkrdaff
      901 pplhqfctnp knpvtvirgl agalkldlgl fstktlvean nehmvevrtq llqpadenwd
      961 ptgtkkiwrc esnrshttia kyaqyqassf qeslreenek rtqhkdhsdn estssensgr
     1021 rrkgpfktik fgtnidlsdn kkwklqlhel tklpafarvv sagnllthvg htilgmntvq
     1081 lymkvpgsrt pghqennnfc svninigpgd cewfvvpedy wgvlndfcek nnlnflmssw
     1141 wpnledlyea nvpvyrfiqr pgdlvwinag tvhwvqavgw cnniawnvgp ltacqyklav
     1201 eryewnklks vkspvpmvhl swnmarnikv sdpklfemik
//
LOCUS       NP_056232                236 aa            linear   PRI 12-MAR-2023
DEFINITION  sperm flagellar protein 1 [Homo sapiens].
ACCESSION   NP_056232
VERSION     NP_056232.2
DBSOURCE    REFSEQ: accession NM_015417.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 236)
  AUTHORS   Tapia R and Hecht GA.
  TITLE     Spef1/CLAMP binds microtubules and actin-based structures and
            regulates cell migration and epithelia cell polarity
  JOURNAL   Ann N Y Acad Sci 1515 (1), 97-104 (2022)
   PUBMED   35710871
  REMARK    GeneRIF: Spef1/CLAMP binds microtubules and actin-based structures
            and regulates cell migration and epithelia cell polarity.
            Review article
REFERENCE   2  (residues 1 to 236)
  AUTHORS   Tapia R, Perez-Yepez EA, Carlino MJ, Karandikar UC, Kralicek SE,
            Estes MK and Hecht GA.
  TITLE     Sperm Flagellar 1 Binds Actin in Intestinal Epithelial Cells and
            Contributes to Formation of Filopodia and Lamellipodia
  JOURNAL   Gastroenterology 157 (6), 1544-1555 (2019)
   PUBMED   31473225
  REMARK    GeneRIF: Sperm flagellar 1 (also called CLAMP) is an actin-binding
            protein, rather than a microtubule-binding protein, in intestinal
            epithelial cells (IECs). CLAMP distribution changes during
            intestinal epithelial cell polarization, regulates the formation of
            filopodia, and appears to assist in the organization of actin
            bundles within lamellipodia of migrating IECs.
REFERENCE   3  (residues 1 to 236)
  AUTHORS   Werner ME, Mitchell JW, Putzbach W, Bacon E, Kim SK and Mitchell
            BJ.
  TITLE     Radial intercalation is regulated by the Par complex and the
            microtubule-stabilizing protein CLAMP/Spef1
  JOURNAL   J Cell Biol 206 (3), 367-376 (2014)
   PUBMED   25070955
REFERENCE   4  (residues 1 to 236)
  AUTHORS   Dougherty GW, Adler HJ, Rzadzinska A, Gimona M, Tomita Y, Lattig
            MC, Merritt RC Jr and Kachar B.
  TITLE     CLAMP, a novel microtubule-associated protein with EB-type calponin
            homology
  JOURNAL   Cell Motil Cytoskeleton 62 (3), 141-156 (2005)
   PUBMED   16206169
  REMARK    GeneRIF: a.k.a. Spef1 (sperm flagella) and CLAMP (CaLponin-homology
            And Microtubule associated Protein) CLAMP/Spef1 expression also in
            brain, lung, and inner ear MT association of CLAMP requires the CH
            domain, which has highest similarity with EB family proteins
            Erratum:[Cell Motil Cytoskeleton. 2005 Dec;62(4):259]
REFERENCE   5  (residues 1 to 236)
  AUTHORS   Chan SW, Fowler KJ, Choo KH and Kalitsis P.
  TITLE     Spef1, a conserved novel testis protein found in mouse sperm
            flagella
  JOURNAL   Gene 353 (2), 189-199 (2005)
   PUBMED   15979255
REFERENCE   6  (residues 1 to 236)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB030684.1, DB033051.1, AL040853.1, AL080154.1 and AI925267.1.
            On Mar 10, 2006 this sequence version replaced NP_056232.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EF560745.1, BI520334.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA1970526 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379756.3/ ENSP00000369080.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..236
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     Protein         1..236
                     /product="sperm flagellar protein 1"
                     /note="calponin-homology and microtubule-associated
                     protein"
                     /calculated_mol_wt=26856
     Region          13..104
                     /region_name="CH_2"
                     /note="CH-like domain in sperm protein; pfam06294"
                     /db_xref="CDD:428873"
     Region          115..176
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4P9.3)"
     Region          183..236
                     /region_name="Essential for homodimerization and
                     microtubule bundling activity.
                     /evidence=ECO:0000250|UniProtKB:Q99JL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4P9.3)"
     CDS             1..236
                     /gene="SPEF1"
                     /gene_synonym="C20orf28; CLAMP; SPEF1A"
                     /coded_by="NM_015417.5:162..872"
                     /db_xref="CCDS:CCDS13063.2"
                     /db_xref="GeneID:25876"
                     /db_xref="HGNC:HGNC:15874"
                     /db_xref="MIM:610674"
ORIGIN      
        1 massvdeeal hqlylwvdni plsrpkrnls rdfsdgvlva evikfyfpkm vemhnyvpan
       61 slqqklsnwg hlnrkvlkrl nfsvpddvmr kiaqcapgvv elvliplrqr leerqrrrkq
      121 gagslqelap qdgsgymdvg vsqkargegv pdpqgggqls wdrppaprpp aynralqgdp
      181 sfvlqiaeke qellasqetv qvlqmkvrrl ehllqlknvr iedlsrrlqq aerkqr
//
LOCUS       NP_002532               1023 aa            linear   PRI 12-MAR-2023
DEFINITION  2-oxoglutarate dehydrogenase complex component E1 isoform 1
            precursor [Homo sapiens].
ACCESSION   NP_002532
VERSION     NP_002532.2
DBSOURCE    REFSEQ: accession NM_002541.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1023)
  AUTHORS   Whittle EF, Chilian M, Karimiani EG, Progri H, Buhas D, Kose M,
            Ganetzky RD, Toosi MB, Torbati PN, Badv RS, Shelihan I, Yang H,
            Elloumi HZ, Lee S, Jamshidi Y, Pittman AM, Houlden H, Ignatius E,
            Rahman S, Maroofian R, Yoon WH and Carroll CJ.
  TITLE     Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead
            to a neurodevelopmental disorder characterized by global
            developmental delay, movement disorder, and metabolic abnormalities
  JOURNAL   Genet Med 25 (2), 100332 (2023)
   PUBMED   36520152
  REMARK    GeneRIF: Biallelic variants in OGDH encoding oxoglutarate
            dehydrogenase lead to a neurodevelopmental disorder characterized
            by global developmental delay, movement disorder, and metabolic
            abnormalities.
REFERENCE   2  (residues 1 to 1023)
  AUTHORS   Yap ZY, Strucinska K, Matsuzaki S, Lee S, Si Y, Humphries K,
            Tarnopolsky MA and Yoon WH.
  TITLE     A biallelic pathogenic variant in the OGDH gene results in a
            neurological disorder with features of a mitochondrial disease
  JOURNAL   J Inherit Metab Dis 44 (2), 388-400 (2021)
   PUBMED   32383294
  REMARK    GeneRIF: A biallelic pathogenic variant in the OGDH gene results in
            a neurological disorder with features of a mitochondrial disease.
REFERENCE   3  (residues 1 to 1023)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 1023)
  AUTHORS   Leandro J, Dodatko T, Aten J, Nemeria NS, Zhang X, Jordan F,
            Hendrickson RC, Sanchez R, Yu C, DeVita RJ and Houten SM.
  TITLE     DHTKD1 and OGDH display substrate overlap in cultured cells and
            form a hybrid 2-oxo acid dehydrogenase complex in vivo
  JOURNAL   Hum Mol Genet 29 (7), 1168-1179 (2020)
   PUBMED   32160276
  REMARK    GeneRIF: DHTKD1 and OGDH display substrate overlap in cultured
            cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo.
REFERENCE   5  (residues 1 to 1023)
  AUTHORS   Artiukhov AV, Grabarska A, Gumbarewicz E, Aleshin VA, Kahne T,
            Obata T, Kazantsev AV, Lukashev NV, Stepulak A, Fernie AR and Bunik
            VI.
  TITLE     Synthetic analogues of 2-oxo acids discriminate metabolic
            contribution of the 2-oxoglutarate and 2-oxoadipate dehydrogenases
            in mammalian cells and tissues
  JOURNAL   Sci Rep 10 (1), 1886 (2020)
   PUBMED   32024885
  REMARK    GeneRIF: Synthetic analogues of 2-oxo acids discriminate metabolic
            contribution of the 2-oxoglutarate and 2-oxoadipate dehydrogenases
            in mammalian cells and tissues.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1023)
  AUTHORS   McCartney RG, Rice JE, Sanderson SJ, Bunik V, Lindsay H and Lindsay
            JG.
  TITLE     Subunit interactions in the mammalian alpha-ketoglutarate
            dehydrogenase complex. Evidence for direct association of the
            alpha-ketoglutarate dehydrogenase and dihydrolipoamide
            dehydrogenase components
  JOURNAL   J Biol Chem 273 (37), 24158-24164 (1998)
   PUBMED   9727038
REFERENCE   7  (residues 1 to 1023)
  AUTHORS   Koike K.
  TITLE     The gene encoding human 2-oxoglutarate dehydrogenase: structural
            organization and mapping to chromosome 7p13-p14
  JOURNAL   Gene 159 (2), 261-266 (1995)
   PUBMED   7622061
REFERENCE   8  (residues 1 to 1023)
  AUTHORS   Szabo P, Cai X, Ali G and Blass JP.
  TITLE     Localization of the gene (OGDH) coding for the E1k component of the
            alpha-ketoglutarate dehydrogenase complex to chromosome 7p13-p11.2
  JOURNAL   Genomics 20 (2), 324-326 (1994)
   PUBMED   8020988
REFERENCE   9  (residues 1 to 1023)
  AUTHORS   Koike K, Urata Y and Goto S.
  TITLE     Cloning and nucleotide sequence of the cDNA encoding human
            2-oxoglutarate dehydrogenase (lipoamide)
  JOURNAL   Proc Natl Acad Sci U S A 89 (5), 1963-1967 (1992)
   PUBMED   1542694
REFERENCE   10 (residues 1 to 1023)
  AUTHORS   Reed LJ and Hackert ML.
  TITLE     Structure-function relationships in dihydrolipoamide
            acyltransferases
  JOURNAL   J Biol Chem 265 (16), 8971-8974 (1990)
   PUBMED   2188967
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK314179.1, AK304690.1,
            AC004859.3 and BU682361.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 3, 2004 this sequence version replaced NP_002532.1.
            
            Summary: This gene encodes one subunit of the 2-oxoglutarate
            dehydrogenase complex. This complex catalyzes the overall
            conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA
            and CO(2) during the Krebs cycle. The protein is located in the
            mitochondrial matrix and uses thiamine pyrophosphate as a cofactor.
            A congenital deficiency in 2-oxoglutarate dehydrogenase activity is
            believed to lead to hypotonia, metabolic acidosis, and
            hyperlactatemia. Alternative splicing results in multiple
            transcript variants encoding distinct isoforms.[provided by RefSeq,
            Sep 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC004964.1, SRR1803614.1922.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000222673.6/
                                                  ENSP00000222673.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1023
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p13"
     Protein         1..1023
                     /product="2-oxoglutarate dehydrogenase complex component
                     E1 isoform 1 precursor"
                     /EC_number="1.2.4.2"
                     /note="oxoglutarate dehydrogenase (succinyl-transferring);
                     oxoglutarate (alpha-ketoglutarate) dehydrogenase
                     (lipoamide); 2-oxoglutarate dehydrogenase, mitochondrial;
                     oxoglutarate decarboxylase; OGDC-E1; 2-oxoglutarate
                     dehydrogenase complex component E1; testicular tissue
                     protein Li 131; alpha-KGDH-E1; thiamine diphosphate
                     (ThDP)-dependent 2-oxoglutarate dehydrogenase"
                     /calculated_mol_wt=111340
     transit_peptide 1..40
                     /calculated_mol_wt=4613
     mat_peptide     41..1023
                     /product="2-oxoglutarate dehydrogenase complex component
                     E1 isoform 1"
                     /calculated_mol_wt=111340
     Region          49..1015
                     /region_name="sucA"
                     /note="2-oxoglutarate dehydrogenase E1 component;
                     Reviewed; PRK09404"
                     /db_xref="CDD:236499"
     Site            100
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q60597; propagated from
                     UniProtKB/Swiss-Prot (Q02218.3)"
     Site            401
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q60597; propagated from
                     UniProtKB/Swiss-Prot (Q02218.3)"
     Site            970
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q02218.3)"
     CDS             1..1023
                     /gene="OGDH"
                     /gene_synonym="AKGDH; E1k; E1o; KGD1; OGDC; OGDH-E1;
                     OGDH2; OGDHD"
                     /coded_by="NM_002541.4:55..3126"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS34627.1"
                     /db_xref="GeneID:4967"
                     /db_xref="HGNC:HGNC:8124"
                     /db_xref="MIM:613022"
ORIGIN      
        1 mfhlrtcaak lrpltasqtv ktfsqnrpaa artfqqircy sapvaaepfl sgtssnyvee
       61 mycawlenpk svhkswdiff rntnagappg tayqsplpls rgslaavaha qslveaqpnv
      121 dklvedhlav qslirayqir ghhvaqldpl gildadldss vpadiisstd klgfygldes
      181 dldkvfhlpt ttfiggqesa lplreiirrl emaycqhigv efmfindleq cqwirqkfet
      241 pgimqftnee krtllarlvr strfeeflqr kwssekrfgl egcevlipal ktiidkssen
      301 gvdyvimgmp hrgrlnvlan virkeleqif cqfdskleaa degsgdvkyh lgmyhrrinr
      361 vtdrnitlsl vanpshleaa dpvvmgktka eqfycgdteg kkvmsillhg daafagqgiv
      421 yetfhlsdlp sytthgtvhv vvnnqigftt dprmarsspy ptdvarvvna pifhvnsddp
      481 eavmyvckva aewrstfhkd vvvdlvcyrr nghnemdepm ftqplmykqi rkqkpvlqky
      541 aellvsqgvv nqpeyeeeis kydkiceeaf arskdekilh ikhwldspwp gfftldgqpr
      601 smscpstglt edilthignv assvpvenft ihgglsrilk trgemvknrt vdwalaeyma
      661 fgsllkegih irlsgqdver gtfshrhhvl hdqnvdkrtc ipmnhlwpnq apytvcnssl
      721 seygvlgfel gfamaspnal vlweaqfgdf hntaqciidq ficpgqakwv rqngivlllp
      781 hgmegmgpeh ssarperflq mcnddpdvlp dlkeanfdin qlydcnwvvv ncstpgnffh
      841 vlrrqillpf rkpliiftpk sllrhpears sfdemlpgth fqrvipedgp aaqnpenvkr
      901 llfctgkvyy dltrerkard mvgqvaitri eqlspfpfdl llkevqkypn aelawcqeeh
      961 knqgyydyvk prlrttisra kpvwyagrdp aaapatgnkk thltelqrll dtafdldvfk
     1021 nfs
//
LOCUS       NP_001305875             216 aa            linear   PRI 13-MAR-2023
DEFINITION  vacuolar protein sorting-associated protein 26A isoform 5 [Homo
            sapiens].
ACCESSION   NP_001305875
VERSION     NP_001305875.1
DBSOURCE    REFSEQ: accession NM_001318946.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 216)
  AUTHORS   Hou J, Wu H, Xu B, Shang J, Xu X, Li G, Zhang H, Zhang W, Deng Y,
            Hong X, Hu T, Zhang M and Zhan Y.
  TITLE     The Prognostic Value and the Oncogenic and Immunological Roles of
            Vacuolar Protein Sorting Associated Protein 26 A in Pancreatic
            Adenocarcinoma
  JOURNAL   Int J Mol Sci 24 (4), 3486 (2023)
   PUBMED   36834898
  REMARK    GeneRIF: The Prognostic Value and the Oncogenic and Immunological
            Roles of Vacuolar Protein Sorting Associated Protein 26 A in
            Pancreatic Adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 216)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 216)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 216)
  AUTHORS   Choi SA, Kim YH, Park YH, Yang HJ, Jeong PS, Cha JJ, Yoon SB, Kim
            JS, Song BS, Lee JH, Sim BW, Huh JW, Song IS, Lee SR, Kim MK, Kim
            JM, Bae YS, Imakawa K, Kim SU and Chang KT.
  TITLE     Novel crosstalk between Vps26a and Nox4 signaling during
            neurogenesis
  JOURNAL   Cell Death Differ 26 (9), 1582-1599 (2019)
   PUBMED   30464227
  REMARK    GeneRIF: Novel crosstalk between Vps26a and Nox4 signaling during
            neurogenesis.
REFERENCE   5  (residues 1 to 216)
  AUTHORS   Seaman MN, Harbour ME, Tattersall D, Read E and Bright N.
  TITLE     Membrane recruitment of the cargo-selective retromer subcomplex is
            catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP
            TBC1D5
  JOURNAL   J Cell Sci 122 (Pt 14), 2371-2382 (2009)
   PUBMED   19531583
  REMARK    GeneRIF: Membrane recruitment of the cargo-selective retromer
            subcomplex VPS35/29/26 is catalysed by the small GTPase Rab7 and
            inhibited by the Rab-GAP TBC1D5.
REFERENCE   6  (residues 1 to 216)
  AUTHORS   Arighi CN, Hartnell LM, Aguilar RC, Haft CR and Bonifacino JS.
  TITLE     Role of the mammalian retromer in sorting of the cation-independent
            mannose 6-phosphate receptor
  JOURNAL   J Cell Biol 165 (1), 123-133 (2004)
   PUBMED   15078903
REFERENCE   7  (residues 1 to 216)
  AUTHORS   Seaman MN.
  TITLE     Cargo-selective endosomal sorting for retrieval to the Golgi
            requires retromer
  JOURNAL   J Cell Biol 165 (1), 111-122 (2004)
   PUBMED   15078902
REFERENCE   8  (residues 1 to 216)
  AUTHORS   Reddy JV and Seaman MN.
  TITLE     Vps26p, a component of retromer, directs the interactions of Vps35p
            in endosome-to-Golgi retrieval
  JOURNAL   Mol Biol Cell 12 (10), 3242-3256 (2001)
   PUBMED   11598206
REFERENCE   9  (residues 1 to 216)
  AUTHORS   Haft CR, de la Luz Sierra M, Bafford R, Lesniak MA, Barr VA and
            Taylor SI.
  TITLE     Human orthologs of yeast vacuolar protein sorting proteins Vps26,
            29, and 35: assembly into multimeric complexes
  JOURNAL   Mol Biol Cell 11 (12), 4105-4116 (2000)
   PUBMED   11102511
REFERENCE   10 (residues 1 to 216)
  AUTHORS   Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu
            BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ and Chen
            Z.
  TITLE     Identification of genes expressed in human CD34(+) hematopoietic
            stem/progenitor cells by expressed sequence tags and efficient
            full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 95 (14), 8175-8180 (1998)
   PUBMED   9653160
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA498726.1, BX647725.1,
            AF054179.1 and AL596223.3.
            
            Summary: This gene belongs to a group of vacuolar protein sorting
            (VPS) genes. The encoded protein is a component of a large
            multimeric complex, termed the retromer complex, involved in
            retrograde transport of proteins from endosomes to the trans-Golgi
            network. The close structural similarity between the yeast and
            human proteins that make up this complex suggests a similarity in
            function. Expression studies in yeast and mammalian cells indicate
            that this protein interacts directly with VPS35, which serves as
            the core of the retromer complex. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (5) lacks an alternate exon in the
            5' region, and it thus differs in its 5' UTR and initiates
            translation at a downstream in-frame start codon, compared to
            variant 1. The encoded isoform (5) is shorter at the N-terminus,
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.161229.1,
                                           SRR1660809.77354.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..216
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     Protein         1..216
                     /product="vacuolar protein sorting-associated protein 26A
                     isoform 5"
                     /note="vacuolar protein sorting-associated protein 26A;
                     vesicle protein sorting 26A; vacuolar protein sorting 26
                     homolog A; VPS26 retromer complex comonent A"
                     /calculated_mol_wt=25375
     Region          <2..172
                     /region_name="Vps26"
                     /note="Vacuolar protein sorting-associated protein 26;
                     pfam03643"
                     /db_xref="CDD:397622"
     CDS             1..216
                     /gene="VPS26A"
                     /gene_synonym="HB58; Hbeta58; PEP8A; VPS26"
                     /coded_by="NM_001318946.2:358..1008"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:9559"
                     /db_xref="HGNC:HGNC:12711"
                     /db_xref="MIM:605506"
ORIGIN      
        1 mqvekpyesy iganvrlryf lkvtivrrlt dlvkeydliv hqlatypdvn nsikmevgie
       61 dclhiefeyn kskyhlkdvi vgkiyfllvr ikiqhmelql ikkeitgigp stttetetia
      121 kyeimdgapv kgesipirlf lagydptptm rdvnkkfsvr yflnlvlvde edrryfkqqe
      181 iilwrkapek lrkqrtnfhq rfespesqas aeqpem
//
LOCUS       NP_115593               2603 aa            linear   PRI 13-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 17 isoform a [Homo
            sapiens].
ACCESSION   NP_115593
VERSION     NP_115593.3
DBSOURCE    REFSEQ: accession NM_032217.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2603)
  AUTHORS   Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A,
            Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS,
            Cappuccio G, Brunetti-Pierri N, Kortum F, Hempel M, Denecke J,
            Lehman A, Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM,
            Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA,
            Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby
            A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K,
            Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Yachelevich
            N, Lala S, Fernandez-Jaen A, Pelayo JP, Klockner C, Kamphausen SB,
            Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M,
            Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB,
            Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin
            T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C,
            Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J and
            Gordon CT.
  CONSRTM   CAUSES Study; Genomics England Research Consortium
  TITLE     Heterozygous ANKRD17 loss-of-function variants cause a syndrome
            with intellectual disability, speech delay, and dysmorphism
  JOURNAL   Am J Hum Genet 108 (6), 1138-1150 (2021)
   PUBMED   33909992
  REMARK    GeneRIF: Heterozygous ANKRD17 loss-of-function variants cause a
            syndrome with intellectual disability, speech delay, and
            dysmorphism.
REFERENCE   2  (residues 1 to 2603)
  AUTHORS   Menning M and Kufer TA.
  TITLE     A role for the Ankyrin repeat containing protein Ankrd17 in Nod1-
            and Nod2-mediated inflammatory responses
  JOURNAL   FEBS Lett 587 (14), 2137-2142 (2013)
   PUBMED   23711367
  REMARK    GeneRIF: A novel function for Ankrd17 in Nod1 and Nod2 mediated
            anti-bacterial innate immune pathways.
REFERENCE   3  (residues 1 to 2603)
  AUTHORS   Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA,
            Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J,
            Jugurnauth-Little S, Dadaev T, Neal DE, Hamdy FC, Donovan JL, Muir
            K, Giles GG, Severi G, Wiklund F, Gronberg H, Haiman CA, Schumacher
            F, Henderson BE, Le Marchand L, Lindstrom S, Kraft P, Hunter DJ,
            Gapstur S, Chanock SJ, Berndt SI, Albanes D, Andriole G, Schleutker
            J, Weischer M, Canzian F, Riboli E, Key TJ, Travis RC, Campa D,
            Ingles SA, John EM, Hayes RB, Pharoah PD, Pashayan N, Khaw KT,
            Stanford JL, Ostrander EA, Signorello LB, Thibodeau SN, Schaid D,
            Maier C, Vogel W, Kibel AS, Cybulski C, Lubinski J, Cannon-Albright
            L, Brenner H, Park JY, Kaneva R, Batra J, Spurdle AB, Clements JA,
            Teixeira MR, Dicks E, Lee A, Dunning AM, Baynes C, Conroy D,
            Maranian MJ, Ahmed S, Govindasami K, Guy M, Wilkinson RA, Sawyer
            EJ, Morgan A, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker
            CC, Van As NJ, Woodhouse CJ, Thompson A, Dudderidge T, Ogden C,
            Cooper CS, Lophatananon A, Cox A, Southey MC, Hopper JL, English
            DR, Aly M, Adolfsson J, Xu J, Zheng SL, Yeager M, Kaaks R, Diver
            WR, Gaudet MM, Stern MC, Corral R, Joshi AD, Shahabi A, Wahlfors T,
            Tammela TL, Auvinen A, Virtamo J, Klarskov P, Nordestgaard BG,
            Roder MA, Nielsen SF, Bojesen SE, Siddiq A, Fitzgerald LM, Kolb S,
            Kwon EM, Karyadi DM, Blot WJ, Zheng W, Cai Q, McDonnell SK,
            Rinckleb AE, Drake B, Colditz G, Wokolorczyk D, Stephenson RA,
            Teerlink C, Muller H, Rothenbacher D, Sellers TA, Lin HY, Slavov C,
            Mitev V, Lose F, Srinivasan S, Maia S, Paulo P, Lange E, Cooney KA,
            Antoniou AC, Vincent D, Bacot F, Tessier DC, Kote-Jarai Z and
            Easton DF.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391e3912 (2013)
   PUBMED   23535732
REFERENCE   4  (residues 1 to 2603)
  AUTHORS   Wang Y, Tong X, Li G, Li J, Deng M and Ye X.
  TITLE     Ankrd17 positively regulates RIG-I-like receptor (RLR)-mediated
            immune signaling
  JOURNAL   Eur J Immunol 42 (5), 1304-1315 (2012)
   PUBMED   22328336
  REMARK    GeneRIF: The results indicated that ankrd17 is a positive regulator
            of the RIG-I signaling pathway. Ankrd17 enhanced the interaction of
            RIG-I and MDA5 with VISA; the ankyrin repeat domain of ankrd17 is
            required for its interaction with RIG-I.
REFERENCE   5  (residues 1 to 2603)
  AUTHORS   Deng M, Li F, Ballif BA, Li S, Chen X, Guo L and Ye X.
  TITLE     Identification and functional analysis of a novel cyclin e/cdk2
            substrate ankrd17
  JOURNAL   J Biol Chem 284 (12), 7875-7888 (2009)
   PUBMED   19150984
REFERENCE   6  (residues 1 to 2603)
  AUTHORS   Yeo WM and Chow VT.
  TITLE     The VP1 structural protein of enterovirus 71 interacts with human
            ornithine decarboxylase and gene trap ankyrin repeat
  JOURNAL   Microb Pathog 42 (4), 129-137 (2007)
   PUBMED   17276651
REFERENCE   7  (residues 1 to 2603)
  AUTHORS   Jones EA, Tosh D, Wilson DI, Lindsay S and Forrester LM.
  TITLE     Hepatic differentiation of murine embryonic stem cells
  JOURNAL   Exp Cell Res 272 (1), 15-22 (2002)
   PUBMED   11740861
REFERENCE   8  (residues 1 to 2603)
  AUTHORS   Scanlan MJ, Gout I, Gordon CM, Williamson B, Stockert E, Gure AO,
            Jager D, Chen YT, Mackay A, O'Hare MJ and Old LJ.
  TITLE     Humoral immunity to human breast cancer: antigen definition and
            quantitative analysis of mRNA expression
  JOURNAL   Cancer Immun 1, 4 (2001)
   PUBMED   12747765
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 2603)
  AUTHORS   Watt AJ, Jones EA, Ure JM, Peddie D, Wilson DI and Forrester LM.
  TITLE     A gene trap integration provides an early in situ marker for
            hepatic specification of the foregut endoderm
  JOURNAL   Mech Dev 100 (2), 205-215 (2001)
   PUBMED   11165478
REFERENCE   10 (residues 1 to 2603)
  AUTHORS   Sveden,A., Gordon,C.T., Amiel,J. and Chopra,M.
  TITLE     ANKRD17-Related Neurodevelopmental Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36548456
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC053527.8, AC105757.3 and
            AC095053.3.
            On Dec 4, 2003 this sequence version replaced NP_115593.2.
            
            Summary: The protein encoded by this gene belongs to the family of
            ankyrin repeat-containing proteins, and contains two distinct
            arrays of ankyrin repeats in its amino-terminal region, one with 15
            ankyrin repeats, and the other with 10 ankyrin repeats. It also
            contains a nuclear export signal, nuclear localization signal, and
            a cyclin-binding RXL motif. Localization of this protein to the
            nucleus has been shown experimentally, and interactions between
            this protein and cyclin-dependent kinase 2 have been observed. It
            has been suggested that this protein plays a role in both DNA
            replication and in both anti-viral and anti-bacterial innate immune
            pathways. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Dec
            2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000358602.9/ ENSP00000351416.4
            RefSeq Select criteria    :: based on conservation, expression,
                                         longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2603
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     Protein         1..2603
                     /product="ankyrin repeat domain-containing protein 17
                     isoform a"
                     /note="ankyrin repeat domain-containing protein 17;
                     serologically defined breast cancer antigen NY-BR-16; gene
                     trap ankyrin repeat protein"
                     /calculated_mol_wt=274128
     Region          1..143
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Site            19
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Site            50
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q99NH0; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Site            156
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Region          233..262
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          238..264
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          240..>560
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          266..298
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          266..295
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          300..329
                     /region_name="ANK 3"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          303..331
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(306..307,310..312,314..315,319,322,331,333,335,
                     339..340,343..345,347..348,352,355,364,366,368,372..373,
                     376..378,380..381,385,388)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          333..364
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          333..362
                     /region_name="ANK 4"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          366..395
                     /region_name="ANK 5"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          366..394
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          400..431
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          400..429
                     /region_name="ANK 6"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          433..462
                     /region_name="ANK 7"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Site            order(435,439..440,443..445,447..448,452,455,464,466,468,
                     472..473,476..478,480..481,485,488,497,499,501,505..506,
                     509..511,513..514,518,521)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          435..464
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          466..497
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          466..495
                     /region_name="ANK 8"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          499..529
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          499..528
                     /region_name="ANK 9"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          532..561
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          533..562
                     /region_name="ANK 10"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          563..592
                     /region_name="ANK 11"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          566..594
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          568..659
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Site            order(569..570,573..575,577..578,582,585,594,596,598,
                     602..603,606..608,610..611,615,618,627,629,631,635..636,
                     639..641,643..644,648,651)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          596..627
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          596..625
                     /region_name="ANK 12"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          629..658
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          629..658
                     /region_name="ANK 13"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          634..719
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          663..693
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          663..692
                     /region_name="ANK 14"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          696..725
                     /region_name="ANK 15"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          794..>893
                     /region_name="OmpH"
                     /note="Outer membrane protein (OmpH-like); pfam03938"
                     /db_xref="CDD:427600"
     Site            803
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Region          <1075..1113
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          1082..1111
                     /region_name="ANK 16"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Site            order(1084,1088..1089,1092..1094,1096..1097,1101,1104,
                     1113,1115,1117,1121..1122,1125..1127,1129..1130,1134,1137,
                     1147,1149,1151,1155..1156,1159..1161,1163..1164,1168,1171,
                     1180)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          1084..1113
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1097..>1403
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          1115..1147
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1115..1144
                     /region_name="ANK 17"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          1149..1180
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1149..1178
                     /region_name="ANK 18"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          1182..1213
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1182..1211
                     /region_name="ANK 19"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          1217..1247
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1217..1246
                     /region_name="ANK 20"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          1250..1282
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1251..1280
                     /region_name="ANK 21"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          1284..1313
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1284..1313
                     /region_name="ANK 22"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          1319..1348
                     /region_name="ANK 23"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          1320..1373
                     /region_name="Ank_4"
                     /note="Ankyrin repeats (many copies); pfam13637"
                     /db_xref="CDD:372654"
     Site            order(1321,1325..1326,1329..1331,1333..1334,1338,1341,
                     1350,1352,1354,1358..1359,1362..1364,1366..1367,1371,1374,
                     1383,1385,1387,1391..1392,1395..1397,1399..1400,1404,1407)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          1321..1350
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1352..1383
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1352..1381
                     /region_name="ANK 24"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          1385..1414
                     /region_name="ANK 25"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Site            1457
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Region          1479..1500
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          1517..1717
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Site            1635
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Site            1639
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Site            1696
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Site            1700
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Site            1709
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          1726..1796
                     /region_name="KH-I_ANKRD17"
                     /note="type I K homology (KH) RNA-binding domain found in
                     ankyrin repeat domain-containing protein 17 (ANKRD17) and
                     similar proteins; cd22502"
                     /db_xref="CDD:411930"
     Site            order(1735,1737..1739,1741..1745,1748..1749,1752..1753,
                     1758..1761)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:411930"
     Site            1874
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q99NH0; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Region          1906..1995
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Region          2011..2192
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Site            2042
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19150984; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Site            2044
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q99NH0; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Site            2045
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19150984,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Site            2047
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Site            2059
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Site            2067
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Region          <2082..>2337
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     Region          2273..2332
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Site            2373
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75179.3)"
     Region          2381..2423
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75179.3)"
     Site            2401
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O75179.3)"
     CDS             1..2603
                     /gene="ANKRD17"
                     /gene_synonym="CAGS; GTAR; MASK2; NY-BR-16"
                     /coded_by="NM_032217.5:131..7942"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS34004.1"
                     /db_xref="GeneID:26057"
                     /db_xref="HGNC:HGNC:23575"
                     /db_xref="MIM:615929"
ORIGIN      
        1 mekatvpvaa ataaegegsp pavaavagpp aaaevgggvg gssrarsass prgmvrvcdl
       61 llkkkppqqq hhkakrnrtc rppsssesss dsdnsggggg gggggggggg tssnnseeee
      121 ddddeeeevs evesfildqd dlenpmleta sklllsgtad gadlrtvdpe tqarlealle
      181 aagigklsta dgkafadpev lrrltssvsc aldeaaaalt rmraestana gqsdnrslae
      241 acsegdvnav rklliegrsv nehteegesl lclacsagyy elaqvllamh anvedrgikg
      301 ditplmaaan gghvkivkll lahkadvnaq sstgntalty acaggyvdvv kvllesgasi
      361 edhnenghtp lmeagsaghv evarllleng aginthsnef kesaltlacy kghlemvrfl
      421 leagadqehk tdemhtalme acmdghveva rllldsgaqv nmpadsfesp ltlaacgghv
      481 elaallierg asleevndeg ytplmeaare gheemvalll gqganinaqt eetqetaltl
      541 accggfleva dflikagadi elgcstplme aaqeghlelv kyllaaganv hattatgdta
      601 ltyacenght dvadvllqag adlehesegg rtplmkaara ghvctvqfli skganvnrtt
      661 anndhtvlsl acagghlavv elllahgadp thrlkdgstm lieaakgght svvcylldyp
      721 nnllsapppd vtqltppshd lnraprvpvq alpmvvppqe pdkppanvat tlpirnkaas
      781 kqkssshlpa nsqdvqgyit nqspesivee aqgklteleq rikeaiekna qlqslelaha
      841 dqltkekiee lnktreeqiq kkqkileelq kverelqlkt qqqlkkqyle vkaqriqlqq
      901 qqqqscqhlg lltpvgvgeq lsegdyarlq qvdpvllkde pqqtaaqmgf apiqplampq
      961 alplaagplp pgsianltel qgvivgqpvl gqaqlaglgq giltetqqgl mvaspaqtln
     1021 dtlddimaav sgrasamsnt pthsiaasis qpqtptpspi ispsamlpiy paididaqte
     1081 snhdtaltla caggheelvq tllergasie hrdkkgftpl ilaataghvg vveilldnga
     1141 dieaqsertk dtplslacsg grqevvelll argankehrn vsdytplsla asggyvniik
     1201 illnagaein srtgsklgis plmlaamngh taavkllldm gsdinaqiet nrntaltlac
     1261 fqgrtevvsl lldrkanveh raktgltplm eaasggyaev grvlldkgad vnappvpssr
     1321 dtaltiaadk ghykfcelli grgahidvrn kkgntplwla angghldvvq llvqagadvd
     1381 aadnrkitpl maafrkghvk vvrylvkevn qfpsdsecmr yiatitdkem lkkchlcmes
     1441 ivqakdrqaa eanknasill eeldleklre esrrlalaak rekrkekrrk kkeeqrrkle
     1501 eieaknkenf elqaaqekek lkvedepevl teppsatttt tigisatwtt lagshgkrnn
     1561 titttsskrk nrknkitpen vqiifddplp isysqpekvn geskssstse sgdsdnmris
     1621 scsdessnsn ssrksdnhsp avvtttvssk kqpsvlvtfp keerksvsgk asiklsetis
     1681 egtsnslstc tksgpsplss pngkltvasp krgqkreegw kevvrrskkv svpstvisrv
     1741 igrggcnina ireftgahid idkqkdktgd riitirggte strqatqlin alikdpdkei
     1801 delipknrlk sssanskigs saptttaant slmgikmttv alsstsqtat altvpaissa
     1861 sthktiknpv nnvrpgfpvs lplaypppqf ahallaaqtf qqirpprlpm thfggtfppa
     1921 qstwgpfpvr plsparatns pkphmvprhs nqnssgsqvn sagsltsspt tttsssastv
     1981 pgtstngsps spsvrrqlfv tvvktsnatt ttvtttasnn ntaptnatyp mptakehypv
     2041 sspsspsppa qpggvsrnsp ldcgsaspnk vassseqeag sppvvettnt rppnsssssg
     2101 sssahsnqqq ppgsvsqepr pplqqsqvpp pevrmtvppl atssapvavp stapvtypmp
     2161 qtpmgcpqpt pkmetpairp pphgttaphk nsasvqnssv avlsvnhikr phsvpssvql
     2221 pstlstqsac qnsvhpankp iapnfsaplp fgpfstlfen sptsahafwg gsvvssqstp
     2281 esmlsgkssy lpnsdplhqs dtskapgfrp plqrpapsps givnmdspyg svtpssthlg
     2341 nfasnisggq mygpgaplgg apaaanfnrq hfsplslltp cssasndssa qsvssgvrap
     2401 spapssvplg sekpsnvsqd rkvpvpigte rsarirqtgt sapsvigsnl stsvghsgiw
     2461 sfegiggnqd kvdwcnpgmg npmihrpmsd pgvfsqhqam erdstgivtp sgtfhqhvpa
     2521 gymdfpkvgg mpfsvygnam ippvapipdg aggpifngph aadpswnsli kmvssstenn
     2581 gpqtvwtgpw aphmnsvhmn qlg
//
LOCUS       NP_690611                220 aa            linear   PRI 15-MAR-2023
DEFINITION  tumor necrosis factor receptor superfamily member 6 isoform 3
            precursor [Homo sapiens].
ACCESSION   NP_690611
VERSION     NP_690611.1
DBSOURCE    REFSEQ: accession NM_152872.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 220)
  AUTHORS   Lorente L, Martin MM, Perez-Cejas A, Ferrer-Moure C, Ramos-Gomez L,
            Sole-Violan J, Caceres JJ, Jimenez A and Gonzalez-Rivero AF.
  TITLE     Blood soluble Fas concentrations and ischemic stroke patient
            mortality
  JOURNAL   Expert Rev Mol Diagn 22 (12), 1117-1121 (2022)
   PUBMED   36621530
  REMARK    GeneRIF: Blood soluble Fas concentrations and ischemic stroke
            patient mortality.
REFERENCE   2  (residues 1 to 220)
  AUTHORS   Tessarin G, Baronio M, Gazzurelli L, Rossi S, Gorio C, Bertoni E,
            Chiarini M, Moratto D, Mazza C, Porta F, Badolato R and Lougaris V.
  TITLE     Clinical and immunological analysis of a large kindred affected by
            autoimmune lymphoproliferative syndrome (ALPS) due to a novel
            TNFRSF6 mutation displaying age dependent disease activity
  JOURNAL   Clin Immunol 245, 109136 (2022)
   PUBMED   36184054
  REMARK    GeneRIF: Clinical and immunological analysis of a large kindred
            affected by autoimmune lymphoproliferative syndrome (ALPS) due to a
            novel TNFRSF6 mutation displaying age dependent disease activity.
REFERENCE   3  (residues 1 to 220)
  AUTHORS   Asgari R, Bidmeshkipour A, Mansouri K, Bakhtiari M, Mozafari H and
            Abdolmaleki A.
  TITLE     Fas cell surface death receptor/Fas ligand genetic variants in
            gastric cancer patients: A case-control study
  JOURNAL   Indian J Med Res 156 (1), 77-82 (2022)
   PUBMED   36124496
  REMARK    GeneRIF: Fas cell surface death receptor/Fas ligand genetic
            variants in gastric cancer patients: A case-control study.
REFERENCE   4  (residues 1 to 220)
  AUTHORS   Wang W, Tang W, Shan E, Zhang L, Chen S, Yu C and Gao Y.
  TITLE     MiR-130a-5p contributed to the progression of endothelial cell
            injury by regulating FAS
  JOURNAL   Eur J Histochem 66 (2), 3342 (2022)
   PUBMED   35638591
  REMARK    GeneRIF: MiR-130a-5p contributed to the progression of endothelial
            cell injury by regulating FAS.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 220)
  AUTHORS   Jenkins M, Keir M and McCune JM.
  TITLE     A membrane-bound Fas decoy receptor expressed by human thymocytes
  JOURNAL   J Biol Chem 275 (11), 7988-7993 (2000)
   PUBMED   10713117
REFERENCE   6  (residues 1 to 220)
  AUTHORS   Cascino I, Papoff G, Eramo A and Ruberti G.
  TITLE     Soluble Fas/Apo-1 splicing variants and apoptosis
  JOURNAL   Front Biosci 1, d12-d18 (1996)
   PUBMED   9159204
  REMARK    GeneRIF: A review of alternative spliced APO-1 variants and their
            possible biological roles.
            Review article
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 220)
  AUTHORS   Cheng J, Zhou T, Liu C, Shapiro JP, Brauer MJ, Kiefer MC, Barr PJ
            and Mountz JD.
  TITLE     Protection from Fas-mediated apoptosis by a soluble form of the Fas
            molecule
  JOURNAL   Science 263 (5154), 1759-1762 (1994)
   PUBMED   7510905
REFERENCE   8  (residues 1 to 220)
  AUTHORS   Bleesing,J.J.H., Nagaraj,C.B. and Zhang,K.
  TITLE     Autoimmune Lymphoproliferative Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301287
REFERENCE   9  (residues 1 to 220)
  AUTHORS   Inazawa J, Itoh N, Abe T and Nagata S.
  TITLE     Assignment of the human Fas antigen gene (Fas) to 10q24.1
  JOURNAL   Genomics 14 (3), 821-822 (1992)
   PUBMED   1385309
REFERENCE   10 (residues 1 to 220)
  AUTHORS   Oehm A, Behrmann I, Falk W, Pawlita M, Maier G, Klas C, Li-Weber M,
            Richards S, Dhein J, Trauth BC et al.
  TITLE     Purification and molecular cloning of the APO-1 cell surface
            antigen, a member of the tumor necrosis factor/nerve growth factor
            receptor superfamily. Sequence identity with the Fas antigen
  JOURNAL   J Biol Chem 267 (15), 10709-10715 (1992)
   PUBMED   1375228
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA699562.1, Z66556.1,
            AL157394.15, BC012479.1, AK026195.1 and BU620333.1.
            
            Summary: The protein encoded by this gene is a member of the
            TNF-receptor superfamily. This receptor contains a death domain. It
            has been shown to play a central role in the physiological
            regulation of programmed cell death, and has been implicated in the
            pathogenesis of various malignancies and diseases of the immune
            system. The interaction of this receptor with its ligand allows the
            formation of a death-inducing signaling complex that includes
            Fas-associated death domain protein (FADD), caspase 8, and caspase
            10. The autoproteolytic processing of the caspases in the complex
            triggers a downstream caspase cascade, and leads to apoptosis. This
            receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and
            MAPK8/JNK, and is found to be involved in transducing the
            proliferating signals in normal diploid fibroblast and T cells.
            Several alternatively spliced transcript variants have been
            described, some of which are candidates for nonsense-mediated mRNA
            decay (NMD). The isoforms lacking the transmembrane domain may
            negatively regulate the apoptosis mediated by the full length
            isoform. [provided by RefSeq, Mar 2011].
            
            Transcript Variant: This variant (3), also known as FASExo8Del,
            lacks a coding segment, which leads to a translation frameshift,
            compared to variant 1. The resulting isoform (3) contains a
            distinct and shorter C-terminus, as compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.858148.1, Z66556.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..220
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.31"
     Protein         1..220
                     /product="tumor necrosis factor receptor superfamily
                     member 6 isoform 3 precursor"
                     /note="tumor necrosis factor receptor superfamily, member
                     6; APO-1 cell surface antigen; apoptosis antigen 1; Fas
                     AMA; CD95 antigen; FASLG receptor; apoptosis-mediating
                     surface antigen FAS; apoptosis signaling receptor FAS; Fas
                     (TNF receptor superfamily, member 6); TNF receptor
                     superfamily member 6; mutant tumor necrosis receptor
                     superfamily member 6"
                     /calculated_mol_wt=22128
     sig_peptide     1..25
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2670
     Site            28
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:22171320; propagated from
                     UniProtKB/Swiss-Prot (P25445.1)"
     Region          39..167
                     /region_name="TNFRSF6"
                     /note="Tumor necrosis factor receptor superfamily member 6
                     (TNFRSF6), also known as fas cell surface death receptor
                     (Fas); cd10579"
                     /db_xref="CDD:276905"
     Region          47..83
                     /region_name="TNFR-Cys 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P25445.1)"
     Region          48..82
                     /region_name="CRD1"
                     /note="CRD1 [structural motif]"
                     /db_xref="CDD:276905"
     Site            order(59..65,94..97,102)
                     /site_type="other"
                     /note="polypeptide ligand binding site [polypeptide
                     binding]"
                     /db_xref="CDD:276905"
     Region          84..127
                     /region_name="TNFR-Cys 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P25445.1)"
     Region          85..127
                     /region_name="CRD2"
                     /note="CRD2 [structural motif]"
                     /db_xref="CDD:276905"
     Site            118
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P25445.1)"
     Region          128..166
                     /region_name="TNFR-Cys 3"
                     /note="propagated from UniProtKB/Swiss-Prot (P25445.1)"
     Region          129..149
                     /region_name="CRD3"
                     /note="CRD3 [structural motif]"
                     /db_xref="CDD:276905"
     Site            136
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P25445.1)"
     Site            174..190
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P25445.1)"
     Site            209
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25445.1)"
     Site            214
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P25446; propagated from
                     UniProtKB/Swiss-Prot (P25445.1)"
     CDS             1..220
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /coded_by="NM_152872.4:80..742"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS7395.1"
                     /db_xref="GeneID:355"
                     /db_xref="HGNC:HGNC:11920"
                     /db_xref="MIM:134637"
ORIGIN      
        1 mlgiwtllpl vltsvarlss ksvnaqvtdi nskglelrkt vttvetqnle glhhdgqfch
       61 kpcppgerka rdctvngdep dcvpcqegke ytdkahfssk crrcrlcdeg hgleveinct
      121 rtqntkcrck pnffcnstvc ehcdpctkce hgiikectlt sntkckeegs rsnlgwlcll
      181 llpiplivwv krkevqktcr khrkenqgsh esptlnpmlt
//
LOCUS       NP_001243587             450 aa            linear   PRI 15-MAR-2023
DEFINITION  transcriptional enhancer factor TEF-4 isoform 1 [Homo sapiens].
ACCESSION   NP_001243587
VERSION     NP_001243587.1
DBSOURCE    REFSEQ: accession NM_001256658.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 450)
  AUTHORS   Goos H, Kinnunen M, Salokas K, Tan Z, Liu X, Yadav L, Zhang Q, Wei
            GH and Varjosalo M.
  TITLE     Human transcription factor protein interaction networks
  JOURNAL   Nat Commun 13 (1), 766 (2022)
   PUBMED   35140242
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 450)
  AUTHORS   Joo JS, Cho SY, Rou WS, Kim JS, Kang SH, Lee ES, Moon HS, Kim SH,
            Sung JK, Kwon IS, Eun HS and Lee BS.
  TITLE     TEAD2 as a novel prognostic factor for hepatocellular carcinoma
  JOURNAL   Oncol Rep 43 (6), 1785-1796 (2020)
   PUBMED   32323824
  REMARK    GeneRIF: TEAD2 as a novel prognostic factor for hepatocellular
            carcinoma.
REFERENCE   3  (residues 1 to 450)
  AUTHORS   Lucas TG, Henriques BJ and Gomes CM.
  TITLE     Conformational analysis of the riboflavin-responsive
            ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA
            dehydrogenase deficiency
  JOURNAL   Biochim Biophys Acta Proteins Proteom 1868 (6), 140393 (2020)
   PUBMED   32087359
  REMARK    GeneRIF: Multiple-CoA dehydrogenase deficiency (MADD) is an inborn
            disorder of fatty acid and amino acid metabolism caused by
            mutations in the genes encoding for human electron transfer
            flavoprotein (ETF) and its partner electron transfer
            flavoprotein:ubiquinone oxidoreductase (ETF:QO). Conformational
            analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant
            associated with mild multiple acyl-CoA dehydrogenase deficiency.
REFERENCE   4  (residues 1 to 450)
  AUTHORS   Wang Y, Li F, Ma D, Gao Y, Li R and Gao Y.
  TITLE     MicroRNA-608 sensitizes non-small cell lung cancer cells to
            cisplatin by targeting TEAD2
  JOURNAL   Mol Med Rep 20 (4), 3519-3526 (2019)
   PUBMED   31485614
  REMARK    GeneRIF: the increased cisplatin sensitivity induced by miR608
            overexpression was reversed by transfection of TEAD2 in nonsmall
            cell lung cancer (NSCLC) cells. The present data suggested that
            miR608 may represent a novel candidate biomarker for the evaluation
            of cisplatin sensitivity in patients with NSCLC.
REFERENCE   5  (residues 1 to 450)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (residues 1 to 450)
  AUTHORS   Zhang H, Liu CY, Zha ZY, Zhao B, Yao J, Zhao S, Xiong Y, Lei QY and
            Guan KL.
  TITLE     TEAD transcription factors mediate the function of TAZ in cell
            growth and epithelial-mesenchymal transition
  JOURNAL   J Biol Chem 284 (20), 13355-13362 (2009)
   PUBMED   19324877
  REMARK    Erratum:[J Biol Chem. 2019 Apr 12;294(15):5808. PMID: 30979850]
REFERENCE   7  (residues 1 to 450)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   8  (residues 1 to 450)
  AUTHORS   Zhao B, Ye X, Yu J, Li L, Li W, Li S, Yu J, Lin JD, Wang CY,
            Chinnaiyan AM, Lai ZC and Guan KL.
  TITLE     TEAD mediates YAP-dependent gene induction and growth control
  JOURNAL   Genes Dev 22 (14), 1962-1971 (2008)
   PUBMED   18579750
REFERENCE   9  (residues 1 to 450)
  AUTHORS   Jacquemin P, Depetris D, Mattei MG, Martial JA and Davidson I.
  TITLE     Localization of human transcription factor TEF-4 and TEF-5 (TEAD2,
            TEAD3) genes to chromosomes 19q13.3 and 6p21.2 using fluorescence
            in situ hybridization and radiation hybrid analysis
  JOURNAL   Genomics 55 (1), 127-129 (1999)
   PUBMED   9889009
REFERENCE   10 (residues 1 to 450)
  AUTHORS   Jacquemin P, Hwang JJ, Martial JA, Dolle P and Davidson I.
  TITLE     A novel family of developmentally regulated mammalian transcription
            factors containing the TEA/ATTS DNA binding domain
  JOURNAL   J Biol Chem 271 (36), 21775-21785 (1996)
   PUBMED   8702974
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG334109.1, BC051301.1 and BC007556.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 and 2 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC051301.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..450
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..450
                     /product="transcriptional enhancer factor TEF-4 isoform 1"
                     /note="transcriptional enhancer factor TEF-4; TEA domain
                     family member 2"
                     /calculated_mol_wt=49438
     Region          1..46
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15562.2)"
     Region          40..107
                     /region_name="TEA"
                     /note="TEA domain; smart00426"
                     /db_xref="CDD:128703"
     Region          175..450
                     /region_name="Transcriptional activation.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15562.2)"
     Region          186..221
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15562.2)"
     Region          230..447
                     /region_name="YBD"
                     /note="YAP binding domain; pfam17725"
                     /db_xref="CDD:435993"
     CDS             1..450
                     /gene="TEAD2"
                     /gene_synonym="ETF; TEAD-2; TEF-4; TEF4"
                     /coded_by="NM_001256658.2:95..1447"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS58671.1"
                     /db_xref="GeneID:8463"
                     /db_xref="HGNC:HGNC:11715"
                     /db_xref="MIM:601729"
ORIGIN      
        1 mgepragaal ddgsgwtgse egseegtggs egaggdggpd aegvwspdie qsfqealaiy
       61 ppcgrrkiil sdegkmygrn eliaryiklr tgktrtrkqv sshiqvlarr ksreiqsklk
      121 dqvskdkafq tmatmssaql isapslqakl gptgpqvvqa selfqfwsgg sgppwnvpdv
      181 kpfsqtpftl sltppstdlp gyeppqalsp lppptpsppa wqarglgtar lqlvefsafv
      241 eppdavdsyq rhlfvhisqh cpspgapple svdvrqiydk fpekkgglre lydrgpphaf
      301 flvkfwadln wgpsgeeaga ggsissggfy gvssqyesle hmtltcsskv csfgkqvvek
      361 veteraqled grfvyrllrs pmceylvnfl hklrqlpery mmnsvlenft ilqvvtnrdt
      421 qelllctayv fevstserga qhhiyrlvrd
//
LOCUS       XP_047306067            1804 aa            linear   PRI 20-MAR-2023
DEFINITION  microtubule-associated serine/threonine-protein kinase 2 isoform X8
            [Homo sapiens].
ACCESSION   XP_047306067
VERSION     XP_047306067.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047450111.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1804
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1804
                     /product="microtubule-associated serine/threonine-protein
                     kinase 2 isoform X8"
                     /calculated_mol_wt=197009
     Region          201..482
                     /region_name="DUF1908"
                     /note="Domain of unknown function (DUF1908); pfam08926"
                     /db_xref="CDD:430324"
     Region          518..797
                     /region_name="STKc_MAST"
                     /note="Catalytic domain of the Protein Serine/Threonine
                     Kinase, Microtubule-associated serine/threonine kinase;
                     cd05609"
                     /db_xref="CDD:270760"
     Site            order(525..529,533,546,548,580,596..597,599,603,605,642,
                     644,646..647,649,659..660,663,692..697,724,730,733)
                     /site_type="active"
                     /db_xref="CDD:270760"
     Site            order(525..529,533,546,548,580,597..599,603,642,644,
                     646..647,649,659..660)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270760"
     Site            order(529,603,605,642,644,646,663,692..697,724,730,733)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270760"
     Site            order(659..669,689..697)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270760"
     Region          1112..1193
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(1121..1123,1125,1180..1181,1184..1185)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     CDS             1..1804
                     /gene="MAST2"
                     /gene_synonym="MAST205; MTSSK"
                     /coded_by="XM_047450111.1:285..5699"
                     /db_xref="GeneID:23139"
                     /db_xref="HGNC:HGNC:19035"
                     /db_xref="MIM:612257"
ORIGIN      
        1 mkrsrcrdrp qppppdrred gvqraaelsq slpprrrapp grqrleertg pagpegkeqd
       61 vvtgvspllf rklsnpdifs stgkvklqrq lsqddcklwr gnlasslsgk qllplsssvh
      121 ssvgqvtwqs sgeasnlvrm rnqslgqsap sltaglkels lprrgsfcrt snrkslivts
      181 stsptlprph splhghtgns pldsprnfsp napahfsfvp arshshradr tdgrrwslas
      241 lpssgygtnt psstvssscs sqeklhqlpf qptadelhfl tkhfstesvp deegrqspam
      301 rprsrslspg rspvsfdsei immnhvyker fpkataqmee rlaefissnt pdsvlpladg
      361 alsfihhqvi emardcldks rsglitsqyf yelqdnlekl lqdaherses sevafvmqlv
      421 kklmiiiarp arlleclefd peefyhllea aeghakegqg ikcdipryiv sqlgltrdpl
      481 eemaqlsscd spdtpetdds ieghgaslps kktpseedfe tiklisngay gavflvrhks
      541 trqrfamkki nkqnlilrnq iqqafverdi ltfaenpfvv smfcsfdtkr hlcmvmeyve
      601 ggdcatllkn igalpvdmvr lyfaetvlal eylhnygivh rdlkpdnlli tsmghikltd
      661 fglskiglms lttnlyeghi ekdarefldk qvcgtpeyia pevilrqgyg kpvdwwamgi
      721 ilyeflvgcv pffgdtpeel fgqvisdeiv wpegdealpp daqdltskll hqnplerlgt
      781 gsayevkqhp fftgldwtgl lrqkaefipq leseddtsyf dtrseryhhm dsedeeevse
      841 dgcleirqfs scsprfnkvy ssmerlslle errtppptkr slseekedhs dglaglkgrd
      901 rswvigspei lrkrlsvses shtesdsspp mtvrrrcsgl ldaprfpegp eeasstlrrq
      961 pqegiwvltp psgegvsgpv tehsgeqrpk ldeeavgrss gsspametrg rgtsqlaega
     1021 takaisdlav rrarhrllsg dstekrtarp vnkviksasa talsllipse hhtcsplasp
     1081 msphsqssnp ssrdsspsrd flpalgsmrp piiihragkk ygftlrairv ymgdsdvytv
     1141 hhmvwhvedg gpaseaglrq gdlithvnge pvhglvhtev velilksgnk vaisttplen
     1201 tsikvgpark gsykakmarr skrsrgkdgq erkrsslfrk itkqasllht srslsslnrs
     1261 lssgesgpgs pthshslspr sptqgyrvtp davhsvggns sqssspsssv psspagsght
     1321 rpsslhglap klqrqyrspr rksagsipls plahtpsppp ptaspqrsps plsghvaqaf
     1381 ptklhlsppl grqlsrpksa epprspllkr vqsaeklaaa laasekklat srkhsldlph
     1441 selkkelppr evsplevvga rsvlsgkgal pgkgvlqpap sralgtlrqd raerreslqk
     1501 qeairevdss eddteegpen sqgaqelsla phpevsqsva pkgagesgee dpfpsrdprs
     1561 lgpmvpsllt gitlgpprme spsgphrrlg spqaieeaas sssagpnlgq sgatdpippe
     1621 gcwkaqhlht qaltalspst sgltptsscs ppsstsgkls mwswkslieg pdraspsrka
     1681 tmagglanlq dlenttpaqp knlspreqgk tqppsaprla hpsyedpsqg wlwesecaqa
     1741 vkedpalsit qvpdasgdrr qdvpcrgcpl tqksepslrr gqepgghqkh rdlalvpdel
     1801 lkqt
//
LOCUS       XP_011507687             186 aa            linear   PRI 20-MAR-2023
DEFINITION  proton-transporting V-type ATPase complex assembly regulator TMEM9
            isoform X1 [Homo sapiens].
ACCESSION   XP_011507687
VERSION     XP_011507687.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011509385.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..186
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..186
                     /product="proton-transporting V-type ATPase complex
                     assembly regulator TMEM9 isoform X1"
                     /calculated_mol_wt=20827
     Region          44..185
                     /region_name="Tmemb_9"
                     /note="TMEM9; pfam05434"
                     /db_xref="CDD:428471"
     CDS             1..186
                     /gene="TMEM9"
                     /gene_synonym="DERM4; TMEM9A"
                     /coded_by="XM_011509385.3:364..924"
                     /db_xref="GeneID:252839"
                     /db_xref="HGNC:HGNC:18823"
                     /db_xref="MIM:616877"
ORIGIN      
        1 mkllslvavv gcllvppaea nkvressedi rckcicppyr nisghiynqn vsqkdcnclh
       61 vvepmpvpgh dveaycllce cryeersttt ikviiviyls vvgalllyma flmlvdplir
      121 kpdayteqlh neeenedars maaaaaslgg prantvlerv egaqqrwklq vqeqrktvfd
      181 rhkmls
//
LOCUS       XP_016857177             793 aa            linear   PRI 20-MAR-2023
DEFINITION  arf-GAP with SH3 domain, ANK repeat and PH domain-containing
            protein 3 isoform X5 [Homo sapiens].
ACCESSION   XP_016857177
VERSION     XP_016857177.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001688.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..793
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..793
                     /product="arf-GAP with SH3 domain, ANK repeat and PH
                     domain-containing protein 3 isoform X5"
                     /calculated_mol_wt=86992
     Region          <1..112
                     /region_name="BAR"
                     /note="The Bin/Amphiphysin/Rvs (BAR) domain, a
                     dimerization module that binds membranes and detects
                     membrane curvature; cl12013"
                     /db_xref="CDD:448379"
     Region          163..269
                     /region_name="PH_ASAP"
                     /note="ArfGAP with SH3 domain, ankyrin repeat and PH
                     domain Pleckstrin homology (PH) domain; cd13251"
                     /db_xref="CDD:270071"
     Region          293..415
                     /region_name="ArfGap_ASAP3"
                     /note="ArfGAP domain of ASAP3 (ArfGAP with ANK repeat and
                     PH domain-containing protein 3); cd17900"
                     /db_xref="CDD:350087"
     Site            order(296..297,300,323..325,346,354..358,360..362,
                     364..366,370..371,374..375,407,410..411)
                     /site_type="other"
                     /note="putative ANK repeat binding site [polypeptide
                     binding]"
                     /db_xref="CDD:350087"
     Site            order(310,313,330,333,396)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:350087"
     Site            order(310,313,330,333,338)
                     /site_type="other"
                     /note="arginine finger"
                     /db_xref="CDD:350087"
     Site            order(335,338..339)
                     /site_type="other"
                     /note="GTP binding site [chemical binding]"
                     /db_xref="CDD:350087"
     Region          420..453
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(421..422,425..427,429..430,434,437,453,455,456,
                     460..461,464..466,471..472,476,479,488,490,492,496..497,
                     500..502,504..505,509,512,521)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          455..488
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          459..544
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          490..521
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..793
                     /gene="ASAP3"
                     /gene_synonym="ACAP4; CENTB6; DDEFL1; UPLC1"
                     /coded_by="XM_017001688.3:409..2790"
                     /db_xref="GeneID:55616"
                     /db_xref="HGNC:HGNC:14987"
                     /db_xref="MIM:616594"
ORIGIN      
        1 mkgqlrdgrq dskkqlekaw kdyeakmakl ekerdrarvt ggipgevaqd mqrerrifql
       61 hmceyllkag esqmkqgpdf lqslikffha qhnffqdgwk aaqslfpfie klaasvhalh
      121 qaqedelqkl tqlrdslrgt lqlesreehl srknsgcgys ihqhqgnkqf gtekvgflyk
      181 ksdgirrvwq krkcgvkygc ltishstinr ppvkltlltc qvrpnpeekk cfdlvthnrt
      241 yhfqaedehe ceawvsvlqn skdealssaf lgepsagpgs wgsaghdgep hdltklliae
      301 vksrpgnsqc cdcgaadptw lstnlgvltc iqcsgvhrel gvrfsrmqsl tldllgpsel
      361 llalnmgnts fnevmeaqlp shggpkpsae sdmgtrrdyi makyvehrfa rrctpepqrl
      421 wtaicnrdll svleafangq dfgqplpgpd aqapeelvlh lavkvanqas lplvdfiiqn
      481 gghldakaad gntalhyaal ynqpdclkll lkgralvgtv neagetaldi arkkhhkece
      541 elleqaqagt fafplhvdys wvistepgsd seedeeekvg pspvpqasgw qkerarlglr
      601 cllklpaqah wasgrldisn ktyetvaslg aatpqgesed cppplpvkns srtlvqgcar
      661 hasgdrsevs slsseapetp eslgspasss slmsplepgd psqappnsee glreppgtsr
      721 psltsgttps emylpvrfss estrsyrrga rspedgpsar qplprrnvpv gitegdgsrt
      781 gslpassvql lqd
//
LOCUS       XP_047285697             462 aa            linear   PRI 20-MAR-2023
DEFINITION  EF-hand calcium-binding domain-containing protein 4B isoform X5
            [Homo sapiens].
ACCESSION   XP_047285697
VERSION     XP_047285697.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429741.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..462
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..462
                     /product="EF-hand calcium-binding domain-containing
                     protein 4B isoform X5"
                     /calculated_mol_wt=53664
     Region          <33..113
                     /region_name="PRK12309"
                     /note="transaldolase"
                     /db_xref="CDD:183426"
     Region          <201..>384
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..462
                     /gene="CRACR2A"
                     /gene_synonym="EFCAB4B; RAB46"
                     /coded_by="XM_047429741.1:213..1601"
                     /db_xref="GeneID:84766"
                     /db_xref="HGNC:HGNC:28657"
                     /db_xref="MIM:614178"
ORIGIN      
        1 maapdgrvvs rpqrlgqgsg qgpkgsgacl hpldsleqke tqeqtsgqlv mlrkaqeffq
       61 tcdaegkgfi arkdmqrlhk elplsleele dvfdaldadg ngyltpqeft tgfshfffsq
      121 nnpsqedage qvaqrheekv ylsrgdedlg dmgedeeaqf rmlmdrlgaq kvledesdvk
      181 qlwlqlkkee phllsnfedf ltriisqlqe aheeknelec alkrkiaayd eeiqhlyeem
      241 eqqiksekeq fllkdterfq arsqeleqkl lckeqeleql tqkqkrlegq ctalhhdkhe
      301 tkaentklkl tnqelarele rtswelqdaq qqleslqqea cklhqekeme vyrvteslqr
      361 ekagllkqld flrernkhlr derdicfqkn kaakantaas raswkkrsgs vigkyvdsrg
      421 ilrrwpqrdr giptlqyqtq rdledckhem kkickaevtl em
//
LOCUS       XP_006720072             698 aa            linear   PRI 20-MAR-2023
DEFINITION  fermitin family homolog 2 isoform X2 [Homo sapiens].
ACCESSION   XP_006720072
VERSION     XP_006720072.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006720009.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..698
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..698
                     /product="fermitin family homolog 2 isoform X2"
                     /calculated_mol_wt=79702
     Region          17..96
                     /region_name="FERM_F0_KIND2"
                     /note="FERM (Four.1 protein, Ezrin, Radixin, Moesin)
                     domain, F0 sub-domain, found in kindlin-2 (KIND2);
                     cd17181"
                     /db_xref="CDD:340701"
     Region          97..288
                     /region_name="FERM_F1_KIND2"
                     /note="FERM (Four.1 protein, Ezrin, Radixin, Moesin)
                     domain, F1 sub-domain, found in kindlin-2 (KIND2);
                     cd17184"
                     /db_xref="CDD:340704"
     Region          <252..>335
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          384..508
                     /region_name="PH_fermitin"
                     /note="Fermitin family pleckstrin homology (PH) domain;
                     cd01237"
                     /db_xref="CDD:269943"
     Site            order(392,394,396,400..402,404,417,419,430)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:269943"
     Region          <495..591
                     /region_name="FERM_M"
                     /note="FERM central domain; pfam00373"
                     /db_xref="CDD:425644"
     Region          585..676
                     /region_name="FERM_C_fermitin"
                     /note="FERM domain C-lobe of the Fermitin family; cd13205"
                     /db_xref="CDD:270026"
     Site            order(595,613,615,623)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270026"
     Site            order(627,632..635,665,669,672..673)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270026"
     Site            665..676
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270026"
     CDS             1..698
                     /gene="FERMT2"
                     /gene_synonym="KIND2; mig-2; MIG2; PLEKHC1; UNC112;
                     UNC112B"
                     /coded_by="XM_006720009.4:140..2236"
                     /db_xref="GeneID:10979"
                     /db_xref="HGNC:HGNC:15767"
                     /db_xref="MIM:607746"
ORIGIN      
        1 maldgirmpd gcyadgtwel svhvtdlnrd vtlrvtgevh iggvmlklve kldvkkdwsd
       61 halwwekkrt wllkthwtld kygiqadakl qftpqhkllr lqlpnmkyvk vkvnfsdrvf
      121 kavsdicktf nirhpeelsl lkkprdptkk kkkklddqse dealelegpl itpgsgtdvl
      181 yigplkgsiy sspglysktm tptydahdgs plsptsawfg dsalsegnpg ilavsqpits
      241 peilakmfkp qalldkakin qgwldssrsl meqdvkenea lllrfkyysf fdlnpkydai
      301 rinqlyeqak wailleeiec teeemmmfaa lqyhinklsi mtsenhlnns dkevdevdaa
      361 lsdleitleg gktstilgdi tsipeladyi kvfkpkkltl kgykqywctf kdtsiscyks
      421 keessgtpah qmnlrgcevt pdvnisgqkf nikllipvae gmneiwlrcd nekqyahwma
      481 acrlaskgkt madssynlev qnilsflkmq hlnpdpqlip eqittditpe clvsprylkk
      541 yknkqpgyir dlitarilea hqnvaqmsli eakmrfiqaw qslpefgith fiarfqggkk
      601 eeligiaynr lirmdastgd aiktwrfsnm kqwnvnweik mvtvefadev rlsfictevd
      661 ckvvhefigg yiflstrakd qnesldeemf ykltsgwv
//
LOCUS       XP_047288741             721 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Lines homolog 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047288741
VERSION     XP_047288741.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432785.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..721
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..721
                     /product="protein Lines homolog 1 isoform X2"
                     /calculated_mol_wt=81408
     Region          193..506
                     /region_name="LINES_N"
                     /note="Lines N-terminus; pfam14694"
                     /db_xref="CDD:434134"
     Region          676..711
                     /region_name="LINES_C"
                     /note="Lines C-terminus; pfam14695"
                     /db_xref="CDD:434135"
     CDS             1..721
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /coded_by="XM_047432785.1:1057..3222"
                     /db_xref="GeneID:55180"
                     /db_xref="HGNC:HGNC:30922"
                     /db_xref="MIM:610350"
ORIGIN      
        1 mkvfcevlee lykkvllgat lendshdyif ylnpavsdqd cstatslewa ntcgiqgrhq
       61 pisvgvapia vapvclktns qmsgsrevml lqltvikvmt trilsvktef hakeqyrdvi
      121 killesakvd sklicmfqns dkllshmaaq clalllyfql rekitlsnsw iafcqknlse
      181 ysesnkaiyc lwtltaiike ifkdscsqkt eilkqflthf dtifevfyns lfsqhfencr
      241 dtskivnilm cfldllelli asrihlklhf tcqrilflkp scmlevitwp iqafvkrkvi
      301 iflkkcllck vgedlcrgsv palmppdhhv avdmlalana vlqavnsgll ktlsvyekhs
      361 ffggdevqpe celitspdhv ilraaslvim ksleikfqny ssasevkeqd ddmleaakas
      421 lgiyltltrg ceatesltqg kemwdhhthe ngynphcifl fflknigfds tvlldfliss
      481 etcfleyfvr ylkllqkdwd nffticnnfd ateskydisi cgcvpslvqd qssnqtiphr
      541 ltaphshrdv carhswasda pseplkavms kgahtmcass lssprasqsl vdydssddsd
      601 vesteqclan skqtslhqqa tkeiqdaagt srdkkefsle ppsrplvlke fdtafsfdce
      661 vapndvvsev gifyrivkcf qelqdaicrl qkknlfpynp tallkllkyi evisnktmnt
      721 l
//
LOCUS       XP_047288928             693 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor 12 isoform X4 [Homo sapiens].
ACCESSION   XP_047288928
VERSION     XP_047288928.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432972.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..693
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..693
                     /product="transcription factor 12 isoform X4"
                     /calculated_mol_wt=74165
     Region          582..666
                     /region_name="bHLH_E-protein_TCF4_E2-2"
                     /note="basic helix-loop-helix (bHLH) domain found in
                     transcription factor 4 (TCF-4) and similar proteins;
                     cd18945"
                     /db_xref="CDD:381515"
     Site            order(590,594,596..598,600,605,626..627)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381515"
     Site            order(603..604,607..608,610..611,614,618,628,631,635,638,
                     641..646)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381515"
     CDS             1..693
                     /gene="TCF12"
                     /gene_synonym="bHLHb20; CRS3; HEB; HH26; HsT17266; HTF4;
                     p64; TCF-12"
                     /coded_by="XM_047432972.1:286..2367"
                     /db_xref="GeneID:6938"
                     /db_xref="HGNC:HGNC:11623"
                     /db_xref="MIM:600480"
ORIGIN      
        1 mnpqqqrmaa igtdkelsdl ldfsamfspp vnsgktrptt lgssqfsgsg ftdlntslqy
       61 fsiderggtt swgtsgqpsp sydssrgftd sphysdhlnd srlgahegls ptpfmnsnlm
      121 gktsergsfs lysrdtglpg cqssllrqdl glgspaqlss sgkpgtayys fsatssrrrp
      181 lhdsaaldpl qakkvrkvpp glpssvyaps pnsddfnres psypspkppt smfastffmq
      241 dgthnssdlw sssngmsqpg fggilgtsts hmsqsssygn lhshdrlsyp phsvsptdin
      301 tslppmssfh rgstssspyv aashtpping sdsilgtrgn aagssqtgda lgkalasiys
      361 pdhtsssfps npstpvgsps pltgtsqwpr pggqapssps yenslhslqs rmedrldrld
      421 daihvlrnha vgpstslpag hsdihsllgp shnapigsln snyggsslva ssrsasmvgt
      481 hredsvslng nhsvlsstvt tsstdlnhkt qenyrgglqs qsgtvvttei ktenkekden
      541 lheppssddm ksddessqkd ikvssrgrts tnededlnpe qkierekerr mannarerlr
      601 vrdineafke lgrmcqlhlk sekpqtklli lhqavavils leqqvrernl npkaaclkrr
      661 eeekvsavsa eppttlpgth pglsettnpm ghm
//
LOCUS       XP_047289915             250 aa            linear   PRI 20-MAR-2023
DEFINITION  BRICHOS domain-containing protein 5 isoform X2 [Homo sapiens].
ACCESSION   XP_047289915
VERSION     XP_047289915.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433959.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..250
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..250
                     /product="BRICHOS domain-containing protein 5 isoform X2"
                     /calculated_mol_wt=27140
     Region          134..215
                     /region_name="BRICHOS"
                     /note="The BRICHOS domain is found in a variety of
                     proteins implicated in dementia, respiratory distress and
                     cancer; smart01039"
                     /db_xref="CDD:198107"
     CDS             1..250
                     /gene="BRICD5"
                     /gene_synonym="C16orf79"
                     /coded_by="XM_047433959.1:171..923"
                     /db_xref="GeneID:283870"
                     /db_xref="HGNC:HGNC:28309"
ORIGIN      
        1 msnphdpsdp darpgedqal lrglesrepa paaaaagagr cggcgwrasw lcsgpsqaka
       61 adaandppep phapaqpnhp ggrgpergdh hsdptseqpq lggavrraer ewagrghpgr
      121 crsggprltp lppqgcicyr peehqvcflr lmedsdretl rllvdtskvq eawvpsqdth
      181 htqellavqg slevdpaqag alvqrlcmrt piywarraeg prrqrliylc idicfpsnic
      241 vsvcfyylpd
//
LOCUS       XP_011526002             439 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 563 isoform X2 [Homo sapiens].
ACCESSION   XP_011526002
VERSION     XP_011526002.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011527700.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..439
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..439
                     /product="zinc finger protein 563 isoform X2"
                     /calculated_mol_wt=50577
     Region          <18..281
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          110..126
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          134..154
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          157..>435
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          162..182
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          190..210
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(195,197,199,201..202,205..206,209,223,225,229..230,
                     233..234,237,251,253,255,257..258,261..262,265)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          218..238
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          246..266
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          274..294
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          302..322
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          330..350
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          358..378
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          386..406
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          414..434
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..439
                     /gene="ZNF563"
                     /coded_by="XM_011527700.3:125..1444"
                     /db_xref="GeneID:147837"
                     /db_xref="HGNC:HGNC:30498"
ORIGIN      
        1 mgfagsitee fiqicdarnh qepglykchm verfseskds sqcgetfsli rdsivnnsic
       61 pgedpcqsae ceevimghls lnshirvdsg hkpheyqeyg ekphthkqrg kafsyhhsfq
      121 srgrphtgkk ryeckecgkt fssrrnlrrh mvvqggnrpy kcklcgkaff wpsllrmher
      181 thtgekpyec kqcskafpfy ssyrrhermh tgekpyeckq cskalpdsss yirherthtg
      241 ekpytckqcg kafsvssslr rhetthsaek pyeckqcgkt fhhlgsfqih mkrhtgdrph
      301 kckicgkgfd rpslvryher ihtgekpyec kqcgktlshs ssfrrhmimh tgggphkcki
      361 cgkafvypsv cqrhekshsg ekpyeckqcg kalshsssfr rhmvmhtgdg pnkckvcgka
      421 fvypsvcqrh ekthwreti
//
LOCUS       XP_016882474             175 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 302 isoform X6 [Homo sapiens].
ACCESSION   XP_016882474
VERSION     XP_016882474.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017026985.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..175
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..175
                     /product="zinc finger protein 302 isoform X6"
                     /calculated_mol_wt=19513
     Region          48..108
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     CDS             1..175
                     /gene="ZNF302"
                     /gene_synonym="HSD16; MST154; MSTP154; ZNF135L; ZNF140L;
                     ZNF327"
                     /coded_by="XM_017026985.2:225..752"
                     /db_xref="GeneID:55900"
                     /db_xref="HGNC:HGNC:13848"
ORIGIN      
        1 msqrqypecy lapngclvsn cgvnkmsnee lvgqnhgmeg eactggdvtf sdvaidfshe
       61 ewacldsaqr dlykdvmvqn yenlvsvgls vtkpyvimll edgkepwmme kklskaypfp
      121 lshsvpasvn fgfsalfehc sevteifels elcvfwvlhf lsnspnstve affkk
//
LOCUS       XP_047295340             729 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 227 isoform X4 [Homo sapiens].
ACCESSION   XP_047295340
VERSION     XP_047295340.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439384.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..729
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..729
                     /product="zinc finger protein 227 isoform X4"
                     /calculated_mol_wt=83621
     Region          256..276
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          272..293
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          284..304
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(289,291,293,295..296,299..300,303,317,319,323..324,
                     327..328,331,345,347,349,351..352,355..356,359)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          312..332
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(312,315,328,332)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          336..709
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          340..360
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          368..388
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          396..416
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          424..444
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          452..472
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(457,459,461,463..464,467..468,471,485,487,491..492,
                     495..496,499,513,515,517,519..520,523..524,527)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          480..500
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(480,483,496,500)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          508..528
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          536..556
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(536,539,552,556)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          564..584
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          592..612
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(592,595,608,612)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          620..640
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          648..668
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          676..696
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          704..724
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..729
                     /gene="ZNF227"
                     /coded_by="XM_047439384.1:112..2301"
                     /db_xref="GeneID:7770"
                     /db_xref="HGNC:HGNC:13020"
ORIGIN      
        1 mvsqleaeek lwmmetetqr sskhqnkmet lqkfalkyls nqelscwqiw kqvaseltrc
       61 lqgkssqllq gdsiqvsene nnimnpkgds siyienqefp fwrtqhscgn tylsesqiqs
      121 rgkqidvknn lqihedfmkk spfhehiktd tepkpckgne ygkiisdgsn qklplgekph
      181 pcgecgrgfs ysprlplhpn vhtgekcfsq sshlrthqri hpgeklnrch esgdcfnkss
      241 fhsyqsnhtg eksyrcdscg kgfssstgli ihyrthtgek pykceecgkc fsqssnfqch
      301 qrvhteekpy kceecgkgfg wsvnlrvhqr vhrgekpykc eecgkgftqa ahfhihqrvh
      361 tgekpykcdv cgkgfshnsp lichrrvhtg ekpykceacg kgftrntdlh ihfrvhtgek
      421 pykckecgkg fsqasnlqvh qnvhtgekrf kcetcgkgfs qssklqthqr vhtgekpyrc
      481 dvcgkdfsys snlklhqvih tgekpykcee cgkgfswrsn lhahqrvhsg ekpykceqcd
      541 ksfsqaidfr vhqrvhtgek pykcgvcgkg fsqssglqsh qrvhtgekpy kcdvcgkgfr
      601 yssqfiyhqr ghtgekpykc eecgkgfgrs lnlrhhqrvh tgekphicee cgkafslpsn
      661 lrvhlgvhtr eklfkceecg kgfsqsarle ahqrvhtgek pykcdicdkd frhrsrltyh
      721 qkvhtgkkl
//
LOCUS       XP_011508900             494 aa            linear   PRI 20-MAR-2023
DEFINITION  raftlin-2 isoform X4 [Homo sapiens].
ACCESSION   XP_011508900
VERSION     XP_011508900.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011510598.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..494
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..494
                     /product="raftlin-2 isoform X4"
                     /calculated_mol_wt=55246
     Region          1..433
                     /region_name="Raftlin"
                     /note="pfam15250"
                     /db_xref="CDD:434572"
     CDS             1..494
                     /gene="RFTN2"
                     /gene_synonym="C2orf11; Raftlin-2"
                     /coded_by="XM_011510598.4:130..1614"
                     /db_xref="GeneID:130132"
                     /db_xref="HGNC:HGNC:26402"
                     /db_xref="MIM:618215"
ORIGIN      
        1 mgcglrkled pddsspgkif stlkrpqvet ktefayeyvl ldftlqassn pevikinsil
       61 divtkvenyy lkgyivgaih pviqpvgqrk hlpasylyrv vllrlklspk nsaapsgqrr
      121 prlvieecpl tseaqtndaa keliekhysp skfcngtnhd gdiesmlhvr hgsdencrsw
      181 negtlsgqss esgieeelhh esgqyqmeqn gsptssksrk geasdnklyt vfnafdddst
      241 swayqegils mkvtrkgsvi stldadwlel ttfyykqgls lidsfvfwet skgehlpksl
      301 egffiyeeeg sgvpgssrkg ndaivveqwt viegceiktd ygpllhtlae fgwlltsvlp
      361 tpvlrhdseg nlatkqivfl qrpvmwnsaa qtpdmwvrqc eknkkkasrh ikgedknkat
      421 srsigldtts sqpaesrhlp eecrlspsre cwtkegrlaq hnsfsgfsss dnvlrelddg
      481 qfdqedgvtq vtcm
//
LOCUS       XP_047300684             977 aa            linear   PRI 20-MAR-2023
DEFINITION  vacuolar protein sorting-associated protein 54 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047300684
VERSION     XP_047300684.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444728.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..977
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..977
                     /product="vacuolar protein sorting-associated protein 54
                     isoform X1"
                     /calculated_mol_wt=110458
     Region          736..867
                     /region_name="Vps54"
                     /note="Vps54-like protein; pfam07928"
                     /db_xref="CDD:429741"
     CDS             1..977
                     /gene="VPS54"
                     /gene_synonym="HCC8; hVps54L; PPP1R164; SLP-8p; VPS54L;
                     WR"
                     /coded_by="XM_047444728.1:634..3567"
                     /db_xref="GeneID:51542"
                     /db_xref="HGNC:HGNC:18652"
                     /db_xref="MIM:614633"
ORIGIN      
        1 masshssspv pqgsssdvff kievdpskhi rpvpslpdvc pkeptgdshs lyvapslvtd
       61 qhrwtvyhsk vnlpaalndp rlakresdff tktwgldfvd tevipsfylp qiskehftvy
      121 qqeisqreki hercknicpp kdtfertllh thdksrtdle qvpkifmkpd falddsltfn
      181 svlpwshfnt aggkgnrdaa sskllqekls hyldivevni ahqislrsea ffhamtsqhe
      241 lqdylrktsq avkmlrdkia qidkvmcegs lhilrlaltr nncvkvynkl klmatvhqtq
      301 ptvqvllsts efvgaldlia ttqevlqqel qgihsfrhlg sqlcelekli dkmmiaefst
      361 yshsdlnrpl eddcqvleee rlislvfgll kqrklnflei ygekmvitak niikqcvink
      421 vsqteeidtd vvvkladqmr mlnfpqwfdl lkdifskfti flqrvkatln iihsvvlsvl
      481 dknqrtrele eisqqknaak dnsldtevay lihegmfisd afgegeltpi avdttsqrna
      541 spnsepcssd svsepecttd sssskehtss saipggvdim vsedmkltds elgklanniq
      601 ellysasdic hdravkflms rakdgflekl nsmefitlsr lmetfildte qicgrkstsl
      661 lgalqsqaik fvnrfheerk tklsllldne rwkqadvpae fqdlvdslsd gkialpekks
      721 gateerkpae vlivegqqya vvgtvlllir iileycqcvd nipsvttdml trlsdllkyf
      781 nsrscqlvlg agalqvvglk tittknlals srclqlivhy ipvirahfea rlppkqysml
      841 rhfdhitkdy hdhiaeisak lvaimdslfd kllskyevka pvpsacfrni ckqmtkmhea
      901 ifdllpeeqt qmlflrinas yklhlkkqls hlnvindggp qnglvtadva fytgnlqalk
      961 glkdldlnma eiweqkr
//
LOCUS       XP_016860158            1740 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium channel protein type 9 subunit alpha isoform X4 [Homo
            sapiens].
ACCESSION   XP_016860158
VERSION     XP_016860158.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004669.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1740
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1740
                     /product="sodium channel protein type 9 subunit alpha
                     isoform X4"
                     /calculated_mol_wt=198107
     Region          <81..162
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          287..446
                     /region_name="Na_trans_cytopl"
                     /note="Cytoplasmic domain of voltage-gated Na+ ion
                     channel; pfam11933"
                     /db_xref="CDD:432199"
     Region          495..708
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          734..939
                     /region_name="Na_trans_assoc"
                     /note="Sodium ion transport-associated; pfam06512"
                     /db_xref="CDD:428983"
     Region          943..1218
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1210..1262
                     /region_name="Na_channel_gate"
                     /note="Inactivation gate of the voltage-gated sodium
                     channel alpha subunits; cd13433"
                     /db_xref="CDD:240441"
     Site            1224..1227
                     /site_type="other"
                     /note="putative hydrophobic latch"
                     /db_xref="CDD:240441"
     Region          1266..1522
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:425730"
     Region          1534..1581
                     /region_name="GPHH"
                     /note="Voltage-dependent L-type calcium channel,
                     IQ-associated; pfam16905"
                     /db_xref="CDD:435642"
     CDS             1..1740
                     /gene="SCN9A"
                     /gene_synonym="ETHA; FEB3B; GEFSP7; HSAN2D; Nav1.7; NE-NA;
                     NENA; PN1; SFNP"
                     /coded_by="XM_017004669.2:146..5368"
                     /db_xref="GeneID:6335"
                     /db_xref="HGNC:HGNC:10597"
                     /db_xref="MIM:603415"
ORIGIN      
        1 miltvfclsv faliglqlfm gnlkhkcfrn slennetles imntleseed frkyfyyleg
       61 skdallcgfs tdsgqcpegy tcvkigrnpd ygytsfdtfs waflalfrlm tqdywenlyq
      121 qtlraagkty miffvvvifl gsfylinlil avvamayeeq nqanieeakq kelefqqmld
      181 rlkkeqeeae aiaaaaaeyt sirrsrimgl sesssetskl ssksakerrn rrkkknqkkl
      241 ssgeekgdae klskseseds irrksfhlgv eghrrahekr lstpnqspls irgslfsarr
      301 ssrtslfsfk grgrdigset efaddehsif gdnesrrgsl fvphrpqerr ssnisqasrs
      361 ppmlpvngkm hsavdcngvv slvdgrsalm lpngqllpev iidkatsdds gttnqihkkr
      421 rcssyllsed mlndpnlrqr amsrasiltn tveeleesrq kcppwwyrfa hkfliwncsp
      481 ywikfkkciy fivmdpfvdl aiticivlnt lfmamehhpm teefknvlai gnlvftgifa
      541 aemvlkliam dpyeyfqvgw nifdslivtl slvelfladv eglsvlrsfr llrvfklaks
      601 wptlnmliki ignsvgalgn ltlvlaiivf ifavvgmqlf gksykecvck inddctlprw
      661 hmndffhsfl ivfrvlcgew ietmwdcmev agqamclivy mmvmvignlv vlnlflalll
      721 ssfssdnlta ieedpdannl qiavtrikkg inyvkqtlre filkafskkp kisreirqae
      781 dlntkkenyi snhtlaemsk ghnflkekdk isgfgssvdk hlmedsdgqs fihnpsltvt
      841 vpiapgesdl enmnaeelss dsdseyskvr lnrssssecs tvdnplpgeg eeaeaepmns
      901 depeacftdg cvwrfsccqv niesgkgkiw wnirktcyki vehswfesfi vlmillssga
      961 lafediyier kktikiiley adkiftyifi lemllkwiay gyktyftnaw cwldflivdv
     1021 slvtlvantl gysdlgpiks lrtlralrpl ralsrfegmr vvvnaligai psimnvllvc
     1081 lifwlifsim gvnlfagkfy ecinttdgsr fpasqvpnrs ecfalmnvsq nvrwknlkvn
     1141 fdnvglgyls llqvatfkgw tiimyaavds vnvdkqpkye yslymyiyfv vfiifgsfft
     1201 lnlfigviid nfnqqkkklg gqdifmteeq kkyynamkkl gskkpqkpip rpgnkiqgci
     1261 fdlvtnqafd isimvlicln mvtmmvekeg qsqhmtevly winvvfiilf tgecvlklis
     1321 lrhyyftvgw nifdfvvvii sivgmfladl ietyfvsptl frvirlarig rilrlvkgak
     1381 girtllfalm mslpalfnig lllflvmfiy aifgmsnfay vkkedgindm fnfetfgnsm
     1441 iclfqittsa gwdgllapil nskppdcdpk kvhpgssveg dcgnpsvgif yfvsyiiisf
     1501 lvvvnmyiav ilenfsvate esteplsedd femfyevwek fdpdatqfie fsklsdfaaa
     1561 ldpplliakp nkvqliamdl pmvsgdrihc ldilfaftkr vlgesgemds lrsqmeerfm
     1621 sanpskvsye pitttlkrkq edvsatviqr ayrryrlrqn vknissiyik dgdrdddlln
     1681 kkdmafdnvn ensspektda tssttsppsy dsvtkpdkek yeqdrteked kgkdskeskk
//
LOCUS       XP_047301477             691 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase MARCHF7 isoform X2 [Homo sapiens].
ACCESSION   XP_047301477
VERSION     XP_047301477.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445521.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..691
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..691
                     /product="E3 ubiquitin-protein ligase MARCHF7 isoform X2"
                     /calculated_mol_wt=76448
     Region          552..610
                     /region_name="RING_CH-C4HC3_MARCH7"
                     /note="RING-CH finger, H2 subclass (C4HC3-type), found in
                     membrane-associated RING-CH7 (MARCH7); cd16812"
                     /db_xref="CDD:438461"
     CDS             1..691
                     /gene="MARCHF7"
                     /gene_synonym="AXO; AXOT; MARCH-VII; MARCH7; RNF177"
                     /coded_by="XM_047445521.1:257..2332"
                     /db_xref="GeneID:64844"
                     /db_xref="HGNC:HGNC:17393"
                     /db_xref="MIM:613334"
ORIGIN      
        1 meskpsripr risvqpsssl sarmmsgsrg sslndtyhsr dssfrldsey qstsasasas
       61 pfqsawyses eitqgarsrs qnqqrdhdsk rpklsctnct tsagrnvgng lntlsdsswr
      121 hsqvprsssm vlgsfgtdlm rerrdlerrt dssisnlmdy shrsgdftts syvqdrvpsy
      181 sqgarpkens mstlqlntss tnhqlpsehq tilssrdsrn slrsnfssre sessrsntqp
      241 gfsysssrde apiisnserv vssqrpfqes sdnegrrttr rllsriassm sstffsrrss
      301 qdslntrsln sensyvspri ltasqsrsnv psasevpdnr aseasqgfrf lrrrwglssl
      361 shnhssesds enfnqesegr ntgpwlsssl rnrctplfsr rrregrdess riptsdtssr
      421 shifrresne vvhleaqndp lgaaanrpqa saasssattg gstsdsaqgg rntgisgilp
      481 gslfrfavpp algsnltdnv mitvdiipsg wnsadgksdk tksapsrdpe rlqkikesll
      541 ledseeeegd lcricqmaaa sssnlliepc kctgslqyvh qdcmkkwlqa kinsgsslea
      601 vttcelckek lelnledfdi helhrahane qaeyefissg lylvvllhlc eqsfsdmmgn
      661 tnepstrvrl qrmipkktet itghlilpnf i
//
LOCUS       XP_047302075            1853 aa            linear   PRI 20-MAR-2023
DEFINITION  protein TANC1 isoform X15 [Homo sapiens].
ACCESSION   XP_047302075
VERSION     XP_047302075.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446119.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1853
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1853
                     /product="protein TANC1 isoform X15"
                     /calculated_mol_wt=201191
     Region          898..>1210
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          931..957
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(932..933,936..938,940..941,945,948,957,959,961,
                     965..966,969..971,973..974,978,981,990,992,994,998..999,
                     1002..1004,1006..1007,1011)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          959..990
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1071..1101
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1107..1134
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1108..1200
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          1137..1167
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(1138,1142..1143,1146..1148,1150..1151,1155,1158,
                     1167,1169,1171,1175..1176,1179..1181,1183..1184,1188,1191,
                     1200,1202,1204,1208..1209,1212..1214,1216..1217,1221,1224,
                     1233)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          1169..1200
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1174..1262
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          1202..1233
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          1235..1260
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          <1254..1408
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          1284..1309
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(1285..1286,1289..1290,1292,1329,1332..1333,
                     1336..1337,1339..1340,1363,1366..1367,1370..1371,1374)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          1327..1357
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1362..1390
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..1853
                     /gene="TANC1"
                     /gene_synonym="ROLSB; TANC"
                     /coded_by="XM_047446119.1:159..5720"
                     /db_xref="GeneID:85461"
                     /db_xref="HGNC:HGNC:29364"
                     /db_xref="MIM:611397"
ORIGIN      
        1 mlkavlkksr eggkggkkea gsdfgpetsp vlhldhsads pvsslptaed tyrvslakgv
       61 smslpsspll prqshlvqsr vnkkspgpvr kpkyvesprv pgdavimpfr evakptepde
      121 hakadnepsc spaaqelltr lgfllgegip sathitiedk netmctalsq gispcstlts
      181 staspstdsp cstlnscvsk taankspcet isspsstles kdsgiiatit sssenddrsg
      241 sslewnkdgn lrlgvqkgvl hdrradncsp vaeeettgsa estlpkaess agdgpvpysq
      301 gssslimprp nsvaatsstk ledlsyldgq rnaplrtsir lpwhntagar fapykpqdil
      361 lkpllfevps ittdsvfvgr dwlfhqieen lrntelaenr gavvvgnvgf gktaiisklv
      421 alschgsrmr qiasnspgss pktsdptqdl hftpllspss stsasstakt plgsisaenq
      481 rpredavkyl askvvayhyc qadntytclv pefvhsiaal lcrshqlaay rdllikepql
      541 qsmlslrscv qdpvaafkrg vlepltnlrn eqkipeeeyi ilidglneae fhkpdygdtl
      601 ssfitkiisk fpawlklivt vranfqeiis alpfvklsld dfpdnkdihs dlhayvqhrv
      661 hssqdilsni slngkadatl igkvsshlvl rslgsylylk ltldlfqrgh lviksasykv
      721 vpvslselyl lqcnmkfmtq saferalpil nvalaslhpm tdeqifqain aghiqgeqgw
      781 edfqqrmdal scflikrrdk trmfchpsfr ewlvwradge ntaflceprn ghallafmfs
      841 rqegklnrqq tmelghhilk ahifkglskk tgissshlqa lwigystegl saalaslrnl
      901 ytpnvkvsrl lilgganvny rtevlnnapi lcvqshlghe evvtlllefg acldgtseng
      961 mtalcyaaaa ghmklvcllt kkgvrvdhld kkgqcalvhs alrghgdilq ylltcewspg
     1021 ppqpgtlrks halqqaltaa asmghssvvq cllgmekehe vevngtdtlw getaltaaag
     1081 rgklevcell lghgaavsrt nrrgvpplfc aarqghwqiv rlllergcdv nlsdkqgrtp
     1141 lmvaaceghl stvefllskg aalssldkeg lsalswaclk ghravvqylv eegaaidqtd
     1201 kngrtpldla afygdaetvl ylvekgavie hvdhsgmrpl draigcrnts vvvallrkga
     1261 klgnaawama tskpdiliil lqklmeegnv mykkgkmkea aqryqyalrk fpregfgedm
     1321 rpfnelrvsl ylnlsrcrrk tndfgmaeef askalelkpk syeafyarar akrnsrqfva
     1381 aladlqeavk lcptnqevkr llarveeeck qlqrsqqqkq qgplpaplnd seneedtptp
     1441 glsdhfhsee teeeetspqe esvsptprsq psssvpssyi rnlqeglqsk grpvspqsra
     1501 gigkslrepv aqpglllqps kqaqivktsq hlgsgqsavr ngsmkvqiss qnpppspmpg
     1561 riaatpagsr tqhlegtgtf ttragcghfg drlgpsqnvr lqcgengpah plpsktktte
     1621 rllshssvav daappnqggl atcsdvrhpa sltssgssgs psssikmsss tssltssssf
     1681 sdgfkvqgpd trikdkvvth vqsgtaehrp rntpfmgimd ktarfqqqsn ppsrswhcpa
     1741 peglltntss aaglqsante kpslmqvggy nnqaktcsvs tlsasvhnga qvkeleeskc
     1801 qipvhsqenr itktvshlyq esiskqqphi sneahrshlt aakpkrsfie snv
//
LOCUS       XP_047296091             474 aa            linear   PRI 20-MAR-2023
DEFINITION  hepatocyte nuclear factor 4-alpha isoform X1 [Homo sapiens].
ACCESSION   XP_047296091
VERSION     XP_047296091.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440135.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..474
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..474
                     /product="hepatocyte nuclear factor 4-alpha isoform X1"
                     /calculated_mol_wt=52654
     Region          60..135
                     /region_name="NR_DBD_HNF4A"
                     /note="DNA-binding domain of heptocyte nuclear factor 4
                     (HNF4) is composed of two C4-type zinc fingers; cd06960"
                     /db_xref="CDD:143518"
     Site            order(60,63,77,80,96,102,112,115)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143518"
     Site            order(66,70..72,78..79,81,83,85..86,89,109..110,113,116,
                     129..131,133)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143518"
     Site            order(97,110..111,113)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:143518"
     Region          151..373
                     /region_name="NR_LBD_HNF4_like"
                     /note="The ligand binding domain of heptocyte nuclear
                     factor 4, which is explosively expanded in nematodes;
                     cd06931"
                     /db_xref="CDD:132729"
     Site            order(184,190,194,228,232,235,245..246,264,354..355,358)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:132729"
     Site            order(199,203,213..214,216..217,220..221,368..369,
                     372..373)
                     /site_type="other"
                     /note="coactivator recognition site [polypeptide binding]"
                     /db_xref="CDD:132729"
     Site            order(271,292,298,312..313,316..317,320..321,331..332,
                     334..336,338..339,341..343,345..346,349)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:132729"
     CDS             1..474
                     /gene="HNF4A"
                     /gene_synonym="FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9;
                     HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF-14; TCF14"
                     /coded_by="XM_047440135.1:1482..2906"
                     /db_xref="GeneID:3172"
                     /db_xref="HGNC:HGNC:5024"
                     /db_xref="MIM:600281"
ORIGIN      
        1 mrlsktlvdm dmadysaald payttlefen vqvltmgndt spsegtnlna pnslgvsalc
       61 aicgdratgk hygasscdgc kgffrrsvrk nhmyscrfsr qcvvdkdkrn qcrycrlkkc
      121 fragmkkeav qnerdristr rssyedsslp sinallqaev lsrqitspvs gingdirakk
      181 iasiadvces mkeqllvlve wakyipafce lplddqvall rahagehlll gatkrsmvfk
      241 dvlllgndyi vprhcpelae msrvsirild elvlpfqelq iddneyaylk aiiffdpdak
      301 glsdpgkikr lrsqvqvsle dyindrqyds rgrfgellll lptlqsitwq mieqiqfikl
      361 fgmakidnll qemllggsps daphahhplh phlmqehmgt nvivantmpt hlsngqmcew
      421 prprgqaatp etpqpsppgg sgsepykllp gavativkpl saipqptitk qevi
//
LOCUS       XP_011529964             194 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-1,3-mannosyl-glycoprotein
            4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform
            X9 [Homo sapiens].
ACCESSION   XP_011529964
VERSION     XP_011529964.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011531662.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..194
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..194
                     /product="alpha-1,3-mannosyl-glycoprotein
                     4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D
                     isoform X9"
                     /calculated_mol_wt=22153
     Region          96..>191
                     /region_name="PGAP4-like"
                     /note="Post-GPI attachment to proteins factor 4 and
                     similar proteins; cl04660"
                     /db_xref="CDD:446454"
     CDS             1..194
                     /gene="MGAT4D"
                     /gene_synonym="GnT1IP"
                     /coded_by="XM_011531662.3:72..656"
                     /db_xref="GeneID:152586"
                     /db_xref="HGNC:HGNC:43619"
                     /db_xref="MIM:610310"
ORIGIN      
        1 mrtkqvnlli tlvavalfsf scfsiyritq tnnqlincrn hilefkenml hlrnkteknt
       61 qemmkvlnrm kyeitkreil sgnlvaqkad ilnknetvsn tfedlkfffp hlrkegriyp
      121 dviigkgktg vsfalgistv nrgnysylkq tltsvvsrmt lsqekdsvvi vlvadsnedy
      181 lhsvvkmitk kkav
//
LOCUS       XP_011532726             540 aa            linear   PRI 20-MAR-2023
DEFINITION  PWWP domain-containing protein 2A isoform X1 [Homo sapiens].
ACCESSION   XP_011532726
VERSION     XP_011532726.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534424.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..540
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..540
                     /product="PWWP domain-containing protein 2A isoform X1"
                     /calculated_mol_wt=58470
     CDS             1..540
                     /gene="PWWP2A"
                     /gene_synonym="MST101"
                     /coded_by="XM_011534424.4:63..1685"
                     /db_xref="GeneID:114825"
                     /db_xref="HGNC:HGNC:29406"
                     /db_xref="MIM:617823"
ORIGIN      
        1 maavaaeaaa taaspgegga geaepemepi pgseagtdpl pvtateasvp dgetdgqqsa
       61 pqadepplpp pppppgelar speavgpele aeeklsvrva esaaaapqgg pelppspasp
      121 peqppapeer eepplpqpva palvppaggd stvsqlipgs evrvtldhii edalvvsfrf
      181 geklfsgvlm dlskrfgphg ipvtvfpkre ykdkpeampl qsntfqegte vkceangavp
      241 ddpspvphpe lslaeslwts kppplfhega pyppplfird tynqsipqpp prkikrpkrk
      301 myreeptsim naiklrprqv lcdkcknsvv aekkeirkgs satdsskyed kkrrnesvtt
      361 vnkklktdhk vdgknqnesq krnavvkvsn iahsrgrvvk vsaqantska qlstkkvlqs
      421 knmdhakare vlkiakekaq kkqnetstsk nahskvhftr ryqnpssgsl pprvrlkpqr
      481 yrneendssl ktglekmrsg kmapkpqsrc tstrsagllp vearllhfgl qlevncfiwk
//
LOCUS       XP_047274613             677 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylinositol-glycan-specific phospholipase D isoform X1
            [Homo sapiens].
ACCESSION   XP_047274613
VERSION     XP_047274613.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418657.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..677
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..677
                     /product="phosphatidylinositol-glycan-specific
                     phospholipase D isoform X1"
                     /calculated_mol_wt=73597
     Region          214..271
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          283..336
                     /region_name="Int_alpha"
                     /note="Integrin alpha (beta-propellor repeats);
                     smart00191"
                     /db_xref="CDD:214549"
     Region          351..387
                     /region_name="FG-GAP"
                     /note="FG-GAP repeat; pfam01839"
                     /db_xref="CDD:426466"
     CDS             1..677
                     /gene="GPLD1"
                     /gene_synonym="GPIPLD; GPIPLDM; PIGPLD; PIGPLD1; PLD"
                     /coded_by="XM_047418657.1:151..2184"
                     /db_xref="GeneID:2822"
                     /db_xref="HGNC:HGNC:4459"
                     /db_xref="MIM:602515"
ORIGIN      
        1 msagivwaln kdslgpwely vpvkdllgiy eklygrkvit envivdcshi qflemygeml
       61 avsklyptys tkspflveqf qeyflggldd mafwstniyh ltsfmlengt sdcnlpenpl
      121 fiacggqqnh tqgskmqknd fhrnlttslt esvdrninyt ergvffsvns wtpdsmsfiy
      181 kalernirtm figgsqlsqk hvssplasyf lsfpyarlgw amtsadlnqd ghgdlvvgap
      241 gysrpghihi grvyliygnd lglppvdldl dkeahrileg fqpsgrfgsa lavldfnvdg
      301 vpdlavgaps vgseqltykg avyvyfgskq ggmssspnit iscqdiycnl gwtllaadvn
      361 gdsepdlvig spfapgggkq kgivaafysg pslsdkekln veaanwtvrg eedfswfgys
      421 lhgvtvdnrt lllvgsptwk nasrlghllh irdekkslgr vygyfppngq swftisgdka
      481 mgklgtslss ghvlmngtlk qvllvgapty ddvskvaflt vtlhqggatr myaltsdaqp
      541 lllstfsgdr rfsrfggvlh lsdldddgld eiimaaplri advtsgligg edgrvyvyng
      601 kettlgdmtg kckswitpcp eekaqyvlis peassrfgss litvrskakn qvviaagrss
      661 lgarlsgalh vyslgsd
//
LOCUS       XP_005249555            1846 aa            linear   PRI 20-MAR-2023
DEFINITION  mediator of DNA damage checkpoint protein 1 isoform X8 [Homo
            sapiens].
ACCESSION   XP_005249555
VERSION     XP_005249555.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005249498.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1846
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1846
                     /product="mediator of DNA damage checkpoint protein 1
                     isoform X8"
                     /calculated_mol_wt=199906
     Region          53..152
                     /region_name="FHA_MDC1"
                     /note="forkhead associated (FHA) domain found in mediator
                     of DNA damage checkpoint protein 1 (MDC1) and similar
                     proteins; cd22665"
                     /db_xref="CDD:438717"
     Site            order(79,90..94,116..117,145..146)
                     /site_type="other"
                     /note="phosphopeptide binding site [polypeptide binding]"
                     /db_xref="CDD:438717"
     Region          <773..1133
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     Region          <984..1514
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          1650..1720
                     /region_name="BRCT_MDC1_rpt1"
                     /note="first BRCT domain of mediator of DNA damage
                     checkpoint protein 1 (MDC1) and similar proteins; cd17744"
                     /db_xref="CDD:349375"
     Site            order(1655..1656,1689..1691,1693)
                     /site_type="other"
                     /note="histone H2AX interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:349375"
     Region          1752..1832
                     /region_name="BRCT_MDC1_rpt2"
                     /note="second BRCT domain of mediator of DNA damage
                     checkpoint protein 1 (MDC1) and similar proteins; cd18441"
                     /db_xref="CDD:349394"
     Site            order(1765..1766,1800..1801,1823)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:349394"
     Site            1765..1766
                     /site_type="other"
                     /note="gamma-H2AX interaction site [polypeptide binding]"
                     /db_xref="CDD:349394"
     CDS             1..1846
                     /gene="MDC1"
                     /gene_synonym="NFBD1"
                     /coded_by="XM_005249498.5:341..5881"
                     /db_xref="GeneID:9656"
                     /db_xref="HGNC:HGNC:21163"
                     /db_xref="MIM:607593"
ORIGIN      
        1 mghptfptcq qfpsrvayfq imedtqaidw dveeeeeteq sseslrcnve pvgrlhifsg
       61 ahgpekdfpl hlgknvvgrm pdcsvalpfp siskqhaeie ilawdkapil rdcgslngtq
      121 ilrppkvlsp gvshrlrdqe lilfadllcq yhrldvslpf vsrgpltvee tprvqgetqp
      181 qrlllaedse eevdflserr mvkksrttss svivpesdee ghspvlgglg ppfafnlnsd
      241 tdveegqqpa teeassaarr gatveakqse aevvteiqle kdqplvkerd ndtkvkrgag
      301 ngvvpagvil ersqppgeds dtdvdddsrp pgrpaevhle raqpfgfids dtdaeeerip
      361 atpvvipmkk rkifhgvgtr gpgapglahl qesqagsdtd veegkapqav pleksqasmv
      421 insdtddeee vsaaltlahl kesqpaiwnr daeedmpqrv vllqrsqttt erdsdtdvee
      481 eelpvenrea vlkdhtkira lvrahsekdq ppfgdsddsv eadksspgih lersqasttv
      541 dintqvekev ppgsaiihik khqvsvegtn qtdvkavggp akllvvslee awplhgdcet
      601 daeegtslta svvadvrksq lpaegdagae waaavlkqer ahevgaqggp pvaqveqdlp
      661 isrenltdlv vdtdtlgest qpqregaqvp tgrereqhvg gtkdsednyg dsedldlqat
      721 qcflenqgle avqsmedept qafmltppqe lgpshcsfqt tgllnckmpp aekasriraa
      781 ekvsrgdqes pdaclpptvp eapappqkpl nsqsqkhlap ppllspllps ikptvrktrq
      841 dgsqeapeap lsselepfhp kpkirtrkss rmtpfpatsa apephpstst aqpvtpkpts
      901 qatrsrtnrs svktpepvvp tapelqpsts tdqpvtsept sqvtrgrksr ssvktpetvv
      961 ptalelqpst stdrpvtsep tsqatrgrkn rssvktpepv vptapelqps tstdqpvtse
     1021 ptyqatrgrk nrssvktpep vvptapelrp ststdrpvtp kptsrttrsr tnmssvktpe
     1081 tvvptapelq iststdqpvt pkptsrttrs rtnmssvknp estvpiapel ppststeqpv
     1141 tpeptsratr grknrssgkt petlvptapk lepststdqp vtpeptsqat rgrtnrssvk
     1201 tpetvvptap elqpststdq pvtpeptsqa trgrtdrssv ktpetvvpta pelqasastd
     1261 qpvtseptsr ttrgrknrss vktpetvvpa apelqpstst dqpvtpepts ratrgrtnrs
     1321 svktpesivp iapelqpsts rnqlvtpept sratrcrtnr ssvktpepvv ptapephptt
     1381 stdqpvtpkl tsratrrktn rssvktpkpv epaasdlepf tptdqsvtpe aiaqggqskt
     1441 lrsstvramp vpttpefqsp vttdqpispe pitqpscikr qraagnpgsl aapidhkpcs
     1501 aplepksqas rnqrwgavra aesltaipep aspqlletpi hasqiqkvep agrsrftpel
     1561 qpkasqsrkr slatmdspph qkqpqrgevs qktviikeee edtaekpgke edvvtpkpgk
     1621 rkrdqaeeep nripsrslrr tklnqestap kvlftgvvda rgeravlalg gslagsaaea
     1681 shlvtdrirr tvkflcalgr gipilsldwl hqsrkagffl ppdeyvvtdp eqeknfgfsl
     1741 qdalsrarer rllegyeiyv tpgvqppppq mgeiisccgg tylpsmprsy kpqrvvitcp
     1801 qdfphcsipl rvglpllspe flltgvlkqe akpeafvlsp lemsst
//
LOCUS       XP_047298373             213 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM156A/FAM156B isoform X1 [Homo sapiens].
ACCESSION   XP_047298373
VERSION     XP_047298373.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442417.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..213
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..213
                     /product="protein FAM156A/FAM156B isoform X1"
                     /calculated_mol_wt=24280
     Region          1..170
                     /region_name="PGC7_Stella"
                     /note="PGC7/Stella/Dppa3 domain; pfam15549"
                     /db_xref="CDD:434780"
     Region          144..>204
                     /region_name="PGC7_Stella"
                     /note="PGC7/Stella/Dppa3 domain; pfam15549"
                     /db_xref="CDD:434780"
     CDS             1..213
                     /gene="FAM156B"
                     /gene_synonym="TMEM29B"
                     /coded_by="XM_047442417.1:659..1300"
                     /db_xref="GeneID:727866"
                     /db_xref="HGNC:HGNC:31962"
ORIGIN      
        1 mdplqkrnpa spsksspmta aetsqegpap sqpsyseqpm mglsnlspgp gpsqavplpe
       61 gllrqryree ktleerrwer leflqrkkaf lrhvrrrhrd hmapyavgre arisplgdrs
      121 qnrfrcecry cqshrpnlsg ipgesnraph psswetlvqg lsgltlslgt nqpgplpeaa
      181 lqpqeteekr qrerqqeski mfqrllkqwl een
//
LOCUS       XP_054185204             198 aa            linear   PRI 20-MAR-2023
DEFINITION  dual specificity protein phosphatase 14 isoform X1 [Homo sapiens].
ACCESSION   XP_054185204
VERSION     XP_054185204.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329229.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187614.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     Protein         1..198
                     /product="dual specificity protein phosphatase 14 isoform
                     X1"
                     /calculated_mol_wt=22124
     CDS             1..198
                     /gene="DUSP14"
                     /gene_synonym="MKP-L; MKP6"
                     /coded_by="XM_054329229.1:1386..1982"
                     /db_xref="GeneID:11072"
                     /db_xref="HGNC:HGNC:17007"
                     /db_xref="MIM:606618"
ORIGIN      
        1 mssrghstlp rtlmaprmis egdiggiaqi tsslflgrgs vasnrhllqa rgitcivnat
       61 ieipnfnwpq feyvkvplad mphapiglyf dtvadkihsv srkhgatlvh caagvsrsat
      121 lciaylmkfh nvclleaynw vkarrpvirp nvgfwrqlid yerqlfgkst vkmvqtpygi
      181 vpdvyekesr hlmpywgi
//
LOCUS       XP_054186013             678 aa            linear   PRI 20-MAR-2023
DEFINITION  golgin subfamily A member 8M isoform X1 [Homo sapiens].
ACCESSION   XP_054186013
VERSION     XP_054186013.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330038.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_187660.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..678
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.1-13.3"
     Protein         1..678
                     /product="golgin subfamily A member 8M isoform X1"
                     /calculated_mol_wt=76548
     CDS             1..678
                     /gene="GOLGA8M"
                     /coded_by="XM_054330038.1:1672..3708"
                     /db_xref="GeneID:653720"
                     /db_xref="HGNC:HGNC:44404"
ORIGIN      
        1 mtqspkrshl vsgssghrtn fqlegewrlw dlgargsrlp hsltdvdggk slhfphelkt
       61 ltlkeywqkn sprvpaganr nrktngsipq tatsggcqpp gdsatgfhre gptssatlkd
      121 lespcqerav vldsrsveis qlkntikslk qqkkqvehql eeekkannkk qkakrvlevq
      181 lqtlniqkee lntdlyhmkr slryfeeksk dlavrlqhsl qrkgelesvl sdvmatqkkk
      241 anqlsspska gtewkleqsm reeallkvql tqlkesfqqv qlerdeyseh lkgerarwqq
      301 rmrkmsqeic tlkkekqqdm rrveklersl sklknqmaep lppeppavps evelqhlrke
      361 lervagelqa qvknnqrisl lnqrqeerir eqeerlrkqe eriqeqhksl qqlakpqsvf
      421 eepnnenkst lqleqqvkel qeklgeehle aasqqnqqlt aqlslmalpg eghggehlds
      481 egeeaprpmp svpedpesre amssfmdhle ekadlselvk kqelrfiqyw qerchqkihh
      541 llsepggrak daalggghhq agaqggdege aagaaadgia aysnynnghr kflaaahnsa
      601 depgpgapap qelgaadkhg dlcevsltss aqgearedpl ldkptaqpiv qdhqehpglg
      661 snccvpffcw awlprrrr
//
LOCUS       XP_054188946            1319 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 36B isoform X6 [Homo
            sapiens].
ACCESSION   XP_054188946
VERSION     XP_054188946.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332971.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791765) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1319
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     Protein         1..1319
                     /product="ankyrin repeat domain-containing protein 36B
                     isoform X6"
                     /calculated_mol_wt=149880
     CDS             1..1319
                     /gene="ANKRD36B"
                     /gene_synonym="KIAA1641"
                     /coded_by="XM_054332971.1:193..4152"
                     /db_xref="GeneID:57730"
                     /db_xref="HGNC:HGNC:29333"
ORIGIN      
        1 merlcsdgfa fphyyikpyh lkrihravlr gnleklkyll ltyydankrd rkertalhla
       61 catgqpemvh llvsrrceln lcdredrtpl ikavqlrqea catlllqnga dpnitdvfgr
      121 talhyavyne dtsmieklls hgtnieecsk neyqplllav srrkvkmvef llkkkanvna
      181 idylgrsali lavtlgekdi villlqhnid vfsrdvygkl aedyaseaen rvifdliyey
      241 krkryedlpi nsnpvspqkq raekatsddk dsvsniatei kegpisgtvs sqkqpaekat
      301 sdekdsvsni ateikegqqs gtvspqkqsa qkvifkkkvs llniatrimg ggksgtvssq
      361 kqpasktasd ktdsalntat eikdglqcgt vssqkqqalk attdeegsvs niateikdge
      421 ksgtvssqkk palkatsdek dsfsnitrek kdgeisrtvs sqkppalkat svkedsvlni
      481 arekkdgeks rtvsfeqppg lkatrdekds llniargkkd gektrrvssh kqpslkatsd
      541 kedsvpnmat etkdeqisgt vssqkqpawk atsvkkdsvs niateikdgq irgtvssqrr
      601 palkttgdek dsvsniarei kdgeksgtvs pqkqsaqkvi fkkkvsllni atritgggks
      661 gteypenlrt lkatienkds vlntatkmke vqtstpaeqd lemasegeqk rleeyennqp
      721 qvknqihsrd dlddiiqssq tvsedgdslc cncknvilli dqhemkckdc vhllkikntf
      781 clwkrliklk dnhceqlrvk irklknkasv lqkrisekee iksqlkheil elekelcslr
      841 faiqqekkkr rnveelhqkv reklriteeq yrieadvtkp ikpalksaev elktggnnsn
      901 qvsetdeked llhenrlmqd eiarlrlekd tiknqnlekk ylkdfeivkr khedlqkalk
      961 rngetlakti acysgqlaal tdenttlrsk lekqresrqr letemqsyrc rlnaarcdhd
     1021 qshsskrdqe lafqgtvdkc rhlqenlnsh vlilslqlsk aesksrvlkt elhytgealk
     1081 ekalvfehvq selkqkqsqm kdiekmyksg yntmekciek qerfcqlkkq nmllqqqldd
     1141 arnkadnqek ailniqarcd arvqnlqaec rkhrllleed nkmlvnelnh skekecqyek
     1201 ekaerevavr qlqqkrddvl nkgsatkall dassrhctyl engmqdsrkk ldqmrsqfqe
     1261 iqdqltatir ctkemegdtq klevehvmmr kiikkqddqi erlekilqhs slmlqvfes
//
LOCUS       XP_054191216             609 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 39A isoform X3 [Homo sapiens].
ACCESSION   XP_054191216
VERSION     XP_054191216.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335241.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..609
                     /product="tetratricopeptide repeat protein 39A isoform X3"
                     /calculated_mol_wt=69285
     CDS             1..609
                     /gene="TTC39A"
                     /gene_synonym="C1orf34; DEME-6"
                     /coded_by="XM_054335241.1:569..2398"
                     /db_xref="GeneID:22996"
                     /db_xref="HGNC:HGNC:18657"
                     /db_xref="MIM:619885"
ORIGIN      
        1 mdsspslpli rtpesslhea ldqcmtaldl fltnqfseal sylkprtkes myhsltyati
       61 lemqammtfd pqdillagnm mkeaqmlcqr hrrkssvtds fsslvnrptl gqfteeeiha
      121 evcyaecllq raaltflqgs shggavrpra lhdpshacsc ppgpgrqhlf llqdenmvsf
      181 ikggikvrns yqtykeldsl vqssqyckge nhphfeggvk lgvgafnltl smlptrilrl
      241 lefvgfsgnk dygllqleeg asghsfrsvl cvmlllcyht fltfvlgtgn vnieeaekll
      301 kpylnrypkg aiflffagri evikgnidaa irrfeeccea qqhwkqfhhm cywelmwcft
      361 ykgqwkmsyf yadllskenc wskatyiymk aaylsmfgke dhkpfgddev elfravpglk
      421 lkiagkslpt ekfairksrr yfssnpislp vpalemmyiw ngyavigkqp kltdgileii
      481 tkaeemlekg peneysvdde clvkllkglc lkylgrvqea eenfrsisan ekkikydhyl
      541 ipnallelal llmeqdrnee aikllesakq nyknysmesr thfriqaatl qaksslenss
      601 rsmvssvsl
//
LOCUS       XP_054222346             288 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium/calmodulin-dependent protein kinase type 1D isoform X6
            [Homo sapiens].
ACCESSION   XP_054222346
VERSION     XP_054222346.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366371.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..288
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..288
                     /product="calcium/calmodulin-dependent protein kinase type
                     1D isoform X6"
                     /calculated_mol_wt=31919
     CDS             1..288
                     /gene="CAMK1D"
                     /gene_synonym="CaM-K1; CaMKID; CKLiK"
                     /coded_by="XM_054366371.1:132..998"
                     /db_xref="GeneID:57118"
                     /db_xref="HGNC:HGNC:19341"
                     /db_xref="MIM:607957"
ORIGIN      
        1 mqlvsggelf drivekgfyt ekdastlirq vldavyylhr mgivhrdlkp enllyysqde
       61 eskimisdfg lskmegkgdv mstacgtpgy vapevlaqkp yskavdcwsi gviayillcg
      121 yppfydends klfeqilkae yefdspywdd isdsakdfir nlmekdpnkr ytceqaarhp
      181 wiagdtalnk nihesvsaqi rknfakskwr qafnatavvr hmrklhlgss ldssnasvss
      241 slslasqkdc lapstlcsfi ssssgvsgvg aerrprpttv tavhsgsk
//
LOCUS       XP_054223912             625 aa            linear   PRI 20-MAR-2023
DEFINITION  dual specificity protein phosphatase 8 isoform X1 [Homo sapiens].
ACCESSION   XP_054223912
VERSION     XP_054223912.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367937.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..625
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..625
                     /product="dual specificity protein phosphatase 8 isoform
                     X1"
                     /calculated_mol_wt=65696
     CDS             1..625
                     /gene="DUSP8"
                     /gene_synonym="C11orf81; HB5; HVH-5; HVH8"
                     /coded_by="XM_054367937.1:3114..4991"
                     /db_xref="GeneID:1850"
                     /db_xref="HGNC:HGNC:3074"
                     /db_xref="MIM:602038"
ORIGIN      
        1 magdrlprkv mdakklasll rggpggplvi dsrsfveyns whvlssvnic csklvkrrlq
       61 qgkvtiaeli qpaarsqvea tepqdvvvyd qstrdasvla adsflsills kldgcfdsva
      121 iltggfatfs scfpglcegk paallpmsls qpclpvpsvg ltrilphlyl gsqkdvlnkd
      181 lmtqngisyv lnasnscpkp dficesrfmr vpindnycek llpwldksie fidkaklssc
      241 qvivhclagi srsatiaiay imktmgmssd dayrfvkdrr psispnfnfl gqlleyersl
      301 kllaalqgdp gtpsgtpepp pspaagaplp rlppptsesa atgnaaareg glsaggeppa
      361 pptppatsal qqglrglhls sdrlqdtnrl krsfsldiks ayapsrrpdg pgppdpgeap
      421 klckldspsg aalglsspsp dspdaapear prprrrprpp agsparspah slglnfgdaa
      481 rqtprhglsa lsapglpgpg qpagpgawap pldspgtpsp dgpwcfspeg aqgaggvlfa
      541 pfgragapgp gggsdlrrre aaraeprdar tgwpeepape tqfkrrscqm efeegmvegr
      601 argeelaalg kqasfsgsve vievs
//
LOCUS       XP_054224476             471 aa            linear   PRI 20-MAR-2023
DEFINITION  EF-hand calcium-binding domain-containing protein 4A isoform X8
            [Homo sapiens].
ACCESSION   XP_054224476
VERSION     XP_054224476.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368501.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..471
                     /product="EF-hand calcium-binding domain-containing
                     protein 4A isoform X8"
                     /calculated_mol_wt=51992
     CDS             1..471
                     /gene="CRACR2B"
                     /gene_synonym="EFCAB4A"
                     /coded_by="XM_054368501.1:718..2133"
                     /db_xref="GeneID:283229"
                     /db_xref="HGNC:HGNC:28703"
                     /db_xref="MIM:614177"
ORIGIN      
        1 mrprrrrgns rgalqgrglq ywsrlrscfc cvtrrlrass psttcrvsra tcpsrqsswr
       61 lclkvwtglt lassppgssa wawvslwpay pplpraggli rrpgtcgalr aagasrppps
      121 raralsartr awgllaavec veltflapss spvlssgmfv gvasaqganp crtpeetfes
      181 ggldvqgtag sldeeeeeee rfhtvleqlg vapvlgkqra vrtlwarlqr erpellgsfe
      241 dvlirasacl eeaarerdgl eqalrrrese herevralye eteqlreqsr rppsqnfarg
      301 errsrlelel qsreqdlera glrqreleqq lhaqaaehle aqaqnsqlwr ahealrtqle
      361 gaqeqirrle seargrqeqt qrcrgtglgg prcvsrgrgr ralrsgplss psqvpgpprg
      421 kedllggpga pqgaflqpgh hlpstetwsp spgtcrkrks acygnwscsg s
//
LOCUS       XP_054225389            1217 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA2-interacting transcriptional repressor EMSY isoform X28 [Homo
            sapiens].
ACCESSION   XP_054225389
VERSION     XP_054225389.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369414.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1217
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1217
                     /product="BRCA2-interacting transcriptional repressor EMSY
                     isoform X28"
                     /calculated_mol_wt=130237
     CDS             1..1217
                     /gene="EMSY"
                     /gene_synonym="C11orf30; GL002"
                     /coded_by="XM_054369414.1:151..3804"
                     /db_xref="GeneID:56946"
                     /db_xref="HGNC:HGNC:18071"
                     /db_xref="MIM:608574"
ORIGIN      
        1 mpvvwptlld lsrdeckril rkleleayag visalraqgd ltkekkdllg elskvlsist
       61 erhraevrra vnderlttia hkmnlslylg erpsysmsgp nsssewsieg rrlvplmprl
      121 vpqtaftvta navanaaiqh naslpvpaet gskegvscsd edekprkrrr tnssssspvv
      181 lkevpkavvp vsktitvpvs gspkmsnimq sianslpphm spvkitftkp stqttntttq
      241 kviivttsps stfvpnilsk shnyaavtkl vptsviastt qkppvvitas qsslvsnsss
      301 gsssstpspi pntvavtavv sstpsvvmst vaqgvstsai kmastrlpsp kslvsaptqi
      361 laqfpkqhqq spkqqlyqvq qqtqqqvaqp spvshqqqpq qsplppgikp tiqikqesgv
      421 kiitqqvqps kilpkpvtat lptssnspim vvssngaimt tklvttptgt qatytrptvs
      481 psigrmaatp gaatyvktts gsiitvvpks latlggkiis snivsgtttk ittipmtskp
      541 nvivvqkttg kgttiqglpg knvvttllna ggektiqtvp tgakpailta trpitkmivt
      601 qpkgigstvq paakiiptki vygqqgktqv likpkpvtfq atvvseqtrq lvtetlqqas
      661 rvaeagnssi qegkeepqny tdssssstes sqssqvkekl eskprqptid lsqmavpiqm
      721 tqekrhspes psiavvesel vaeyittvsh rsqpqqpsqp qrtllqhvaq sqtatqtsvv
      781 vksipasspg aithimqqal sshtaftkhs eelgteegev eemdtldpqt glfyrsaltq
      841 sqsakqqkls qppleqtqlq vktlqcfqtk qkqtihlqad qlqhklpqmp qlsirhqklt
      901 plqqeqaqpk pdvqhtqhpm vakdrqlptl maqppqtvvq vlavkttqql pklqqapnqp
      961 kiyvqpqtpq sqmslpasse kqtasqveqp iitqgssvtk itfegrqppt vtkitggssv
     1021 pkltspvtsi spiqasekta vsdilkmslm eaqidtnveh mivdppkkal atsmltgeag
     1081 slpsthmvva gmanstpqqq kcrescssps tvgsslttrk idppavpatg qfmriqnvgq
     1141 kkaeespaei iiqaipqyai pchsssnvvv epsgllelnn ftsqqlddee tameqdidss
     1201 tedgtepsps qssaers
//
LOCUS       XP_054227066             673 aa            linear   PRI 20-MAR-2023
DEFINITION  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054227066
VERSION     XP_054227066.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371091.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..673
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..673
                     /product="FYVE, RhoGEF and PH domain-containing protein 4
                     isoform X4"
                     /calculated_mol_wt=76561
     CDS             1..673
                     /gene="FGD4"
                     /gene_synonym="CMT4H; FRABP; ZFYVE6"
                     /coded_by="XM_054371091.1:597..2618"
                     /db_xref="GeneID:121512"
                     /db_xref="HGNC:HGNC:19125"
                     /db_xref="MIM:611104"
ORIGIN      
        1 maaqnqmece eekaatlssd tsiqasepll dthivngerd etatapaspt tdscdgnasd
       61 ssyrtpgigp vlpleergae tetkvqeren gespleleql dqhhemketn eqklhkiane
      121 lllterayvn rldlldqvfy cklleeanrg sfpaemvnki fsnissinaf hskfllpele
      181 krmqewettp rigdilqkla pflkmygeyv kgfdnamelv knmteripqf ksvveeiqkq
      241 kicgsltlqh hmlepvqrip ryemllkdyl rklppdsldw ndakksleii staashsnsa
      301 irkmenlkkl leiyemlgee edivnpsnel ikegqilkla arntsaqery lflfnnmlly
      361 cvpkfslvgs kftvrtrvgi dgmkivetqn eeyphtfqvs gkertlelqa ssaqdkeewi
      421 kalqetidaf hqrhetfrna iakdndihse vstaelgkra prwirdnevt mcmkckepfn
      481 altrrrhhcr acgyvvcwkc sdykaqleyd ggklskvckd cyqiisgftd seekkrkgil
      541 eiesaevsgn svvcsflqym ekskpwqkaw cvipkqdplv lymygapqdv raqatipllg
      601 yvvdemprsa dlphsfkltq sksvhsfaad seelkqkwlk villavtget pggpnehpat
      661 lddhpepkkk sec
//
LOCUS       XP_054227979             574 aa            linear   PRI 20-MAR-2023
DEFINITION  potassium voltage-gated channel subfamily C member 2 isoform X6
            [Homo sapiens].
ACCESSION   XP_054227979
VERSION     XP_054227979.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372004.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..574
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..574
                     /product="potassium voltage-gated channel subfamily C
                     member 2 isoform X6"
                     /calculated_mol_wt=63453
     CDS             1..574
                     /gene="KCNC2"
                     /gene_synonym="DEE103; KV3.2"
                     /coded_by="XM_054372004.1:20..1744"
                     /db_xref="GeneID:3747"
                     /db_xref="HGNC:HGNC:6234"
                     /db_xref="MIM:176256"
ORIGIN      
        1 mgkiennerv ilnvggtrhe tyrstlktlp gtrlallass eppgdcltta gdklqpsppp
       61 lsppprappl spgpggcfeg gagncssrgg rasdhpgggr efffdrhpgv fayvlnyyrt
      121 gklhcpadvc gplfeeelaf wgidetdvep ccwmtyrqhr daeealdife tpdliggdpg
      181 ddedlaakrl giedaaglgg pdgksgrwrr lqprmwalfe dpyssraarf iafaslffil
      241 vsittfclet heafnivknk tepvingtsv vlqyeietdp altyvegvcv vwftfeflvr
      301 ivfspnklef iknllniidf vailpfylev glsglsskaa kdvlgflrvv rfvrilrifk
      361 ltrhfvglrv lghtlrastn efllliifla lgvlifatmi yyaervgaqp ndpsasehtq
      421 fknipigfww avvtmttlgy gdmypqtwsg mlvgalcala gvltiampvp vivnnfgmyy
      481 slamakqklp rkrkkhippa pqassptfck telnmacnst qsdtclgkdn rllehnrsvl
      541 yriyhgllta ekgtvefsht kdytgnrlll lnvp
//
LOCUS       XP_054229559             462 aa            linear   PRI 20-MAR-2023
DEFINITION  EF-hand calcium-binding domain-containing protein 4B isoform X5
            [Homo sapiens].
ACCESSION   XP_054229559
VERSION     XP_054229559.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373584.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..462
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..462
                     /product="EF-hand calcium-binding domain-containing
                     protein 4B isoform X5"
                     /calculated_mol_wt=53711
     CDS             1..462
                     /gene="CRACR2A"
                     /gene_synonym="EFCAB4B; RAB46"
                     /coded_by="XM_054373584.1:482..1870"
                     /db_xref="GeneID:84766"
                     /db_xref="HGNC:HGNC:28657"
                     /db_xref="MIM:614178"
ORIGIN      
        1 maapdgrvvs rpqrlgqgsg qgpkgsgacl hpldsleqke tqeqtsgqlv mlrkaqeffq
       61 tcdaegkgfi arkdmqrlhk elplsleele dvfdaldadg ngyltpqeft tgfshfffsq
      121 nnpsqedvge qvaqrheekv ylsrgdedlg dmgkdeeaqf rmlmdrlgaq kvledesdvk
      181 qlwlqlkkee phllsnfedf ltriisqlqe aheeknelec alkrkiaayd eeiqhlyeem
      241 eqqiksekeq fllkdterfq arsqeleqkl lckeqeleql tqkqkrlegq ctalhhdkhe
      301 tkaentklkl tnqelarele rtswelqdaq qqleslqqea cklhqekeme vyrvteslqr
      361 ekagllkqld flrernkhlr derdicfqkn kaakantaas raswkkrsgs vigkyvdsrg
      421 ilrrwpqrdr giptlqyqtq rdledckrem kkickaevtl em
//
LOCUS       XP_054230461             158 aa            linear   PRI 20-MAR-2023
DEFINITION  high mobility group protein B1 isoform X2 [Homo sapiens].
ACCESSION   XP_054230461
VERSION     XP_054230461.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374486.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..158
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..158
                     /product="high mobility group protein B1 isoform X2"
                     /calculated_mol_wt=18180
     CDS             1..158
                     /gene="HMGB1"
                     /gene_synonym="HMG-1; HMG1; HMG3; SBP-1"
                     /coded_by="XM_054374486.1:700..1176"
                     /db_xref="GeneID:3146"
                     /db_xref="HGNC:HGNC:4983"
                     /db_xref="MIM:163905"
ORIGIN      
        1 mgkgdpkkpr gkmssyaffv qtcreehkkk hpdasvnfse fskkcserwk tmsakekgkf
       61 edmakadkar yeremktyip pkgetkkkfk dpnapkrpps afflfcseyr pkikgehpgl
      121 sigdvakklg emwnntaadd kqpyekkaak lkekyekf
//
LOCUS       XP_054230877             337 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor Dp-1 isoform X6 [Homo sapiens].
ACCESSION   XP_054230877
VERSION     XP_054230877.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374902.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..337
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..337
                     /product="transcription factor Dp-1 isoform X6"
                     /calculated_mol_wt=37378
     CDS             1..337
                     /gene="TFDP1"
                     /gene_synonym="DILC; Dp-1; DP1; DRTF1"
                     /coded_by="XM_054374902.1:108..1121"
                     /db_xref="GeneID:7027"
                     /db_xref="HGNC:HGNC:11749"
                     /db_xref="MIM:189902"
ORIGIN      
        1 makdagliea ngelkvfidq nlspgkgvvs lvavhpstvn plgkqllpkt fgqsnvniaq
       61 qvvigtpqrp aasntlvvgs phtpsthfas qnqpsdsspw sagkrnrkge kngkglrhfs
      121 mkvcekvqrk gttsynevad elvaefsaad nhilpnesay dqknirrrvy dalnvlmamn
      181 iiskekkeik wiglptnsaq ecqnleverq rrlerikqkq sqlqelilqq iafknlvqrn
      241 rhaeqqasrp pppnsvihlp fiivntskkt vidcsisndk feylfnfdnt feihddievl
      301 krmgmacgle sgscsaedlk marslvpkal epyvtvt
//
LOCUS       XP_054170818            1977 aa            linear   PRI 20-MAR-2023
DEFINITION  chromodomain-helicase-DNA-binding protein 3 isoform X31 [Homo
            sapiens].
ACCESSION   XP_054170818
VERSION     XP_054170818.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314843.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1977
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1977
                     /product="chromodomain-helicase-DNA-binding protein 3
                     isoform X31"
                     /calculated_mol_wt=223644
     CDS             1..1977
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /coded_by="XM_054314843.1:195..6128"
                     /db_xref="GeneID:1107"
                     /db_xref="HGNC:HGNC:1918"
                     /db_xref="MIM:602120"
ORIGIN      
        1 msdpdtppqm tfgdkddirl lpsalgvkkr krgpkkqken kpgkprkrkk rdseeefgse
       61 rdeyrekses ggseygtgpg rkrrrkhrek kekktkrrkk gegdggqkqv eqkssatlll
      121 twgledvehv fseedyhtlt nykafsqfmr pliakknpki pmskmmtilg akwrefsann
      181 pfkgsaaava aaaaaaaaav aeqvsaavss atpiapsgpp alppppaadi qpppirrakt
      241 kegkgpghkr rsksprvpdg rkklrgkkma plkiklgllg gkrkkggssd egpepeaees
      301 dldsgsvhsa sgrpdgpvrt kklkrgrpgr kkkkvlgcpa vageeevdgy etdhqdycev
      361 cqqggeiilc dtcprayhlv cldpeldrap egkwscphce kegvqweake eeeeyeeege
      421 eegekeeedd hmeycrvckd ggellccdac issyhihcln pplpdipnge wlcprctcpv
      481 lkgrvqkilh wrwgeppvav papqqadgnp dvppprplqg rsereffvkw vglsywhcsw
      541 akelqleifh lvmyrnyqrk ndmdepppld ygsgeddgks dkrkvkdphy aemeekyyrf
      601 gikpewmtvh riinhsvdkk gnyhylvkwr dlpydqstwe edemnipeye ehkqsywrhr
      661 elimgedpaq prkykkkkke lqgdgppssp tndptvkyet qprfitatgg tlhmyqlegl
      721 nwlrfswaqg tdtilademg lgktiqtivf lyslykeght kgpflvsapl stiinweref
      781 qmwapkfyvv tytgdkdsra iirenefsfe dnaikggkka fkmkreaqvk fhvlltsyel
      841 itidqaalgs irwaclvvde ahrlknnqsk ffrvlngyki dhkllltgtp lqnnleelfh
      901 llnfltperf nnlegfleef adiskedqik klhdllgphm lrrlkadvfk nmpakteliv
      961 rvelspmqkk yykyiltrnf ealnsrgggn qvsllnimmd lkkccnhpyl fpvaamespk
     1021 lpsgayegga likssgklml lqkmlrklke qghrvlifsq mtkmldlled fldyegykye
     1081 ridggitgal rqeaidrfna pgaqqfcfll stragglgin latadtviif dsdwnphndi
     1141 qafsrahrig qankvmiyrf vtrasveeri tqvakrkmml thlvvrpglg skagsmskqe
     1201 lddilkfgte elfkdenege nkeedssvih ydneaiarll drnqdatedt dvqnmneyls
     1261 sfkvaqyvvr eedkieeier eiikqeenvd pdywekllrh hyeqqqedla rnlgkgkrvr
     1321 kqvnyndaaq edqdnqseys vgseeededf derpegrrqs krqlrnekdk plppllarvg
     1381 gnievlgfnt rqrkaflnav mrwgmppqda fttqwlvrdl rgktekefka yvslfmrhlc
     1441 epgadgsetf adgvpregls rqqvltrigv mslvkkkvqe fehingrwsm pelmpdpsad
     1501 skrssrassp tktspttpea satnspctsk patpapsekg egirtpleke eaenqeekpe
     1561 knsrigekme teadapspap slgerleprk ipledevpgv pgemepepgy rgdreksate
     1621 stpgergeek pldgqehrer pegetgdlgk raedvkgdre lrpgprdepr sngrreekte
     1681 kprfmfniad ggftelhtlw qneeraaiss gklneiwhrr hdywllagiv lhgyarwqdi
     1741 qndaqfaiin epfkteankg nflemknkfl arrfklleqa lvieeqlrra aylnlsqepa
     1801 hpamalharf aeaeclaesh qhlskeslag nkpanavlhk vlnqleells dmkadvtrlp
     1861 atlsrippia arlqmsersi lsrlaskgte phptpayppg pyatppgyga afsaapvgal
     1921 aaaganysqm pagsfitaat ngppvlvkke kemvgalvsd gldrkeprag evicidd
//
LOCUS       XP_054171075             393 aa            linear   PRI 20-MAR-2023
DEFINITION  casein kinase I isoform X4 [Homo sapiens].
ACCESSION   XP_054171075
VERSION     XP_054171075.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315100.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..393
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..393
                     /product="casein kinase I isoform X4"
                     /calculated_mol_wt=45068
     CDS             1..393
                     /gene="CSNK1D"
                     /gene_synonym="ASPS; CKI-delta; CKId; CKIdelta; FASPS2;
                     HCKID"
                     /coded_by="XM_054315100.1:5474..6655"
                     /db_xref="GeneID:1453"
                     /db_xref="HGNC:HGNC:2452"
                     /db_xref="MIM:600864"
ORIGIN      
        1 mmqggvgipt irwcgaegdy nvmvmellgp sledlfnfcs rkfslktvll ladqmisrie
       61 yihsknfihr dvkpdnflmg lgkkgnlvyi idfglakkyr darthqhipy renknltgta
      121 ryasinthlg ieqsrrddle slgyvlmyfn lgslpwqglk aatkrqkyer isekkmstpi
      181 evlckgypse fatylnfcrs lrfddkpdys ylrqlfrnlf hrqgfsydyv fdwnmlkfga
      241 sraaddaere rrdreerlrh srnpatrglp stasgrlrgt qevapptplt ptshtantsp
      301 rpvsgmerer kvsmrlhrga pvnisssdlt grqdtsrmst sqvgaelpgg rwasgypvrv
      361 ksglwflqgf ffpffppflr vfnlarvwrl gcr
//
LOCUS       XP_054171461             606 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 652 isoform X1 [Homo sapiens].
ACCESSION   XP_054171461
VERSION     XP_054171461.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315486.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..606
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..606
                     /product="zinc finger protein 652 isoform X1"
                     /calculated_mol_wt=69613
     CDS             1..606
                     /gene="ZNF652"
                     /coded_by="XM_054315486.1:480..2300"
                     /db_xref="GeneID:22834"
                     /db_xref="HGNC:HGNC:29147"
                     /db_xref="MIM:613907"
ORIGIN      
        1 mshtasscqe lvencavhva gmaqedsrrg qvpssfyhga nqeldlstkv ykresgspys
       61 vlvdtkmskp hlheteeqpy fretravsdv havkedrens ddteeeeeev sykreqiive
      121 vnlnnqtlnv skgekgvssq sketpvlkts seeeeeesee eatddsndyg enekqkkkek
      181 ivekvsvtqr rtrraasvaa attsptprtt rgrrksvepp krkkratkep kapvqkakce
      241 eketltcekc prvfntrwyl ekhmnvthrr mqicdkcgkk fvleselslh qqtdcekniq
      301 cvscnksfkk lwslhehiki vhgyaekkfs ceicekkfyt mahvrkhmva htkdmpftce
      361 tcgksfkrsm slkvhslqhs gekpfrcenc derfqykyql rshmsihigh kqfmcqwcgk
      421 dfnmkqyfde hmkthtgekp ficeicgksf tsrpnmkrhr rthtgekpyp cdvcgqrfrf
      481 snmlkahkek cfrvtspvnv ppavqipltt spatpvpsvv ntattptppi nmnpvstlpp
      541 rpiphpfshl hihphphhph hlpippvphl ppppalfkse plnhrgqsed nflrhlaekn
      601 ssaqhh
//
LOCUS       XP_054172589             660 aa            linear   PRI 20-MAR-2023
DEFINITION  mitochondrial Rho GTPase 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054172589
VERSION     XP_054172589.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316614.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..660
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..660
                     /product="mitochondrial Rho GTPase 1 isoform X2"
                     /calculated_mol_wt=75755
     CDS             1..660
                     /gene="RHOT1"
                     /gene_synonym="ARHT1; MIRO-1; MIRO1"
                     /coded_by="XM_054316614.1:23..2005"
                     /db_xref="GeneID:55288"
                     /db_xref="HGNC:HGNC:21168"
                     /db_xref="MIM:613888"
ORIGIN      
        1 mslvseefpe evppraeeit ipadvtperv pthivdysea eqsdeqlhqe isqanviciv
       61 yavnnkhsid kvtsrwipli nertdkdsrl plilvgnksd lveyssmeti lpimnqytei
      121 etcvecsakn lkniselfyy aqkavlhptg plycpeekem kpacikaltr ifkisdqdnd
      181 gtlndaelnf fqricfntpl apqaledvkn vvrkhisdgv adsgltlkgf lflhtlfiqr
      241 grhettwtvl rrfgydddld ltpeylfpll kippdcttel nhhaylflqs tfdkhdldrd
      301 calspdelkd lfkvfpyipw gpdvnntvct nergwityqg flsqwtltty ldvqrcleyl
      361 gylgysilte qesqasavtv trdkkidlqk kqtqrnvfrc nvigvkncgk sgvlqallgr
      421 nlmrqkkire dhksyyaint vyvygqekyl llhdisesef lteaeiicdv vclvydvsnp
      481 ksfeycarif kqhfmdsrip clivaaksdl hevkqeysis ptdfcrkhkm pppqaftcnt
      541 adapskdifv klttmamype dhyrdrlsrd mghtdrienl rkiwvflkta fharlrcmct
      601 cnrctfcicq nflnsdllqs vknkiftavl nslemsqkrp gvvahacnls tfgsrggwit
//
LOCUS       XP_054174747            1089 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 532 isoform X14 [Homo sapiens].
ACCESSION   XP_054174747
VERSION     XP_054174747.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318772.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1089
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1089
                     /product="zinc finger protein 532 isoform X14"
                     /calculated_mol_wt=117833
     CDS             1..1089
                     /gene="ZNF532"
                     /coded_by="XM_054318772.1:84..3353"
                     /db_xref="GeneID:55205"
                     /db_xref="HGNC:HGNC:30940"
                     /db_xref="MIM:619066"
ORIGIN      
        1 mfsrlykkkk ikcfskmwke atcqgplkqi rrkdndtant egqslsrnth lnwlehllkl
       61 mtmgdmktpd fddllaafdi pdmvdpkaai esghddhesh mkqnahgedd shapsssdvg
      121 vsvivknvrn idsseggekd ghnptgnglh ngfltassld syskdgaksl kgdvpasevt
      181 lkdstfsqfs pissaeefdd dekievddpp dkedmrssfr snvltgsapq qdydklkalg
      241 genssktgls tsgnveknka vkreteassi nlsvyepfkv rkaedklkes sdkvlenrvl
      301 dgklsseknd tslpsvapsk tksssklssc iaaiaalsak kaasdsckep vansresspl
      361 pkevndspra adkspesqnl idgtkkpslk qpdsprsiss ensskgspss pagstpaipk
      421 vriktiktss geikrtvtrv lpevdldsgk kpseqtasvm asvtsllssp asaavlsspp
      481 raplqsavvt navspaeltp kqvtikpvat aflpvsavkt agsqvinlkl annttvkatv
      541 isaasvqsas saiikaanai qqqtvvvpas slanaklvpk tvhlanlnll pqgaqatsel
      601 rqvltkpqqq ikqaiinaaa sqppkkvsrv qvvsslqssv veafnkvlss vnpvpvyipn
      661 lsppanagit lptrgykcle cgdsfaleks ltqhydrrsv rievtcnhct knlvfynkcs
      721 llsharghke kgvvmqcshl ilkpvpadqm ivspssntst ststlqspvg agthtvtkiq
      781 sgitgtvisa psstpitpam pldedpsklc rhslkclecn evfqdetsla thfqqaadts
      841 gqqmkkhpcr qcdksfsssh slcrhnrikh kgirkvhcpd srrtftkrlm lekhvqlmhg
      901 ikdpdlkemt datneeetei kedtkvpspk rkleepvlef rpprgaitqp lkklkinvfk
      961 vhkcavcgft tenllqfheh ipqhksdgss yqcrecglcy tshvslsrhl fivhklkepq
     1021 pvskqngage dnqqenkpsh edespdgavs drkckvcakt feteaalnth mrthgmafik
     1081 skrmssaek
//
LOCUS       XP_054176392             353 aa            linear   PRI 20-MAR-2023
DEFINITION  N-formyl peptide receptor 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054176392
VERSION     XP_054176392.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320417.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..353
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..353
                     /product="N-formyl peptide receptor 3 isoform X1"
                     /calculated_mol_wt=39834
     CDS             1..353
                     /gene="FPR3"
                     /gene_synonym="FML2_HUMAN; FMLP-R-II; FMLPY; FPRH1; FPRH2;
                     FPRL2; RMLP-R-I"
                     /coded_by="XM_054320417.1:180..1241"
                     /db_xref="GeneID:2359"
                     /db_xref="HGNC:HGNC:3828"
                     /db_xref="MIM:136539"
ORIGIN      
        1 metnfsipln eteevlpepa ghtvlwifsl lvhgvtfvfg vlgnglviwv agfrmtrtvn
       61 ticylnlala dfsfsailpf rmvsvamrek wpfgsflckl vhvmidinlf vsvylitiia
      121 ldrcicvlhp awaqnhrtms lakrvmtglw iftivltlpn fifwttistt ngdtycifnf
      181 afwgdtaver lnvfitmakv flilhfiigf svpmsiitvc ygiiaakihr nhmikssrpl
      241 rvfaavvasf ficwfpyeli gilmavwlke mllngkykii lvlinptssl affnsclnpi
      301 lyvfmgrnfq erlirslpts leraltevpd saqtsntdtt sasppeetel qam
//
LOCUS       XP_054177396             671 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 415 isoform X3 [Homo sapiens].
ACCESSION   XP_054177396
VERSION     XP_054177396.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321421.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..671
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..671
                     /product="zinc finger protein 415 isoform X3"
                     /calculated_mol_wt=77049
     CDS             1..671
                     /gene="ZNF415"
                     /gene_synonym="Pact; ZfLp"
                     /coded_by="XM_054321421.1:38..2053"
                     /db_xref="GeneID:55786"
                     /db_xref="HGNC:HGNC:20636"
                     /db_xref="MIM:619506"
ORIGIN      
        1 mtpslslsep tcnrdkgldq ktsiqacvlp vpgpslllpq glhvgcasag trwplscsid
       61 fqrllaheee tqkrrakesg maftqltfrd vaiefsqdew kclnstqrtl yrdvmlenyr
      121 nlvsleyypm wehrkepwti esqvrvarkp kgwewikgvk tdlsrncvik elapqqegnp
      181 gevfhtvtle qhekhdieef cfreikkkih dfdcqwrdde rncnkvttap kenltcrrdq
      241 rdrrgignks ikhqlglsfl phphelqqfq aegkiyecnh veksvnhgss vsppqilsst
      301 vkthvsnkcg tdficssllt qeqkscirek pyryiecdka lnhgshmtvr qvshsgekgy
      361 kcdlcgkvfs qksnlarhwr vhtgekpykc necdrsfsrn sclalhrrvh tgekpykcye
      421 cdkvfsrnsc lalhqkthig ekpytckecg kafsvrstlt nhqvihsgkk pykcnecgkv
      481 fsqtsslath qrihtgekpy kcnecgkvfs qtsslarhwr ihtgekpykc necgkvfsyn
      541 shlashrrvh tgekpykcne cgkafsvhsn ltthqvihtg ekpykcnqcg kgfsvhsslt
      601 thqvihtgek pykcnecgks fsvrpnltrh qiihtgkkpy kcsdcgksfs vrpnlfrhqi
      661 ihtkekpykr n
//
LOCUS       XP_054196280             841 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear body protein SP140 isoform X8 [Homo sapiens].
ACCESSION   XP_054196280
VERSION     XP_054196280.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340305.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..841
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..841
                     /product="nuclear body protein SP140 isoform X8"
                     /calculated_mol_wt=95171
     CDS             1..841
                     /gene="SP140"
                     /gene_synonym="LYSP100; LYSP100-A; LYSP100-B"
                     /coded_by="XM_054340305.1:110..2635"
                     /db_xref="GeneID:11262"
                     /db_xref="HGNC:HGNC:17133"
                     /db_xref="MIM:608602"
ORIGIN      
        1 maqqgqqgqm asgdsnlnfr mvaeiqnveg qnlqeqvcpe pifrffrenk veiasaitrp
       61 fpflmglrdr sfiseqmyeh fqeafrnlvp vtrvmycvls elektfgwsh lealfsrinl
      121 maypdlneiy rsfqnvcyeh splqmnnvnd ledrprllpy gkqensnach emddiavpqe
      181 alsssprcep gfssesceql alpkagggda edapsllpgg gvlesngmid aartystapg
      241 ekqgeeegrn sprkrnqdke kyqespegrd ketfdlktpq vtnegepekg lcllpgegee
      301 gsddcsemcd geepqeasss larcgsvscl saetfdlktp qvtnegepek elsllpgege
      361 egsddcsemc dgeerqeass slarrgsvss elenhpmnee geseelassl lydnvpgaeq
      421 sayenekcsc vmcfseevpg speartesdq acgtmdtvdi annstlgkpk rkrrkkrghg
      481 wsrmrmrrqk nsqqndnska dgqvvssekk anvnlkdlsk irgrkrgkpg trftqsdraa
      541 qkrvrsrasr khkdetvdfk apllpvtcgg vkgilhkkkl qqgilvkciq tedgkwftpt
      601 efeikgghar sknwrlsvrc ggwplrwlme ngflpdppri ryrkkkrilk sqnnssvdpc
      661 mrnldecevc rdggelfccd tcsrvfhedc hippveaert pwncifcrmk espgsqqccq
      721 esevlerqmc peeqlkcefl llkvyccses sffakipyyy yireacqglk epmwldkikk
      781 rlnehgypqv egfvqdmrli fqnhrasyky kdfgqmgfrl eaefeknfke vfaiqetngn
      841 n
//
LOCUS       XP_054198559             770 aa            linear   PRI 20-MAR-2023
DEFINITION  PMS1 protein homolog 1 isoform X4 [Homo sapiens].
ACCESSION   XP_054198559
VERSION     XP_054198559.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342584.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..770
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..770
                     /product="PMS1 protein homolog 1 isoform X4"
                     /calculated_mol_wt=86512
     CDS             1..770
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /coded_by="XM_054342584.1:342..2654"
                     /db_xref="GeneID:5378"
                     /db_xref="HGNC:HGNC:9121"
                     /db_xref="MIM:600258"
ORIGIN      
        1 mkqlpaatvr llsssqiits vvsvvkelie nsldagatsv dvklenygfd kievrdngeg
       61 ikavdapvma mkyytskins hedlenltty gfrgealgsi cciaevlitt rtaadnfstq
      121 yvldgsghil sqkpshlgqg ttvtalrlfk nlpvrkqfys takkckdeik kiqdllmsfg
      181 ilkpdlrivf vhnkaviwqk srvsdhkmal msvlgtavmn nmesfqyhse esqiylsgfl
      241 pkcdadhsft slstpersfi finsrpvhqk dilklirhhy nlkclkestr lypvfflkid
      301 vptadvdvnl tpdksqvllq nkesvliale nlmttcygpl pstnsyennk tdvsaadivl
      361 sktaetdvlf nkvessgkny snvdtsvipf qndmhndesg kntddclnhq isigdfgygh
      421 csseisnidk ntknafqdis msnvswensq teysktcfis svkhtqseng nkdhidesge
      481 neeeaglens seisadewsr gnilknsvge niepvkilvp ekslpckvsn nnypipeqmn
      541 lnedscnkks nvidnksgkv taydllsnrv ikkpmsasal fvqdhrpqfl ienpktsled
      601 atlqieelwk tlseeeklnl fngshyldvl ykmtaddqry sgstylsdpr ltangfkikl
      661 ipgvsiteny leiegmancl pfygvadlke ilnailnrna kevyecrprk visylegeav
      721 rlsrqlpmyl skediqdiiy rmkhqfgnei kecvhgrpff hhltylpett
//
LOCUS       XP_054179425             132 aa            linear   PRI 20-MAR-2023
DEFINITION  agouti-signaling protein isoform X1 [Homo sapiens].
ACCESSION   XP_054179425
VERSION     XP_054179425.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323450.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..132
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..132
                     /product="agouti-signaling protein isoform X1"
                     /calculated_mol_wt=14384
     CDS             1..132
                     /gene="ASIP"
                     /gene_synonym="AGSW; AGTI; AGTIL; ASP; SHEP9"
                     /coded_by="XM_054323450.1:190..588"
                     /db_xref="GeneID:434"
                     /db_xref="HGNC:HGNC:745"
                     /db_xref="MIM:600201"
ORIGIN      
        1 mdvtrlllat llvflcffta nshlppeekl rddrslrsns svnlldvpsv sivalnkksk
       61 qigrkaaekk rsskkeasmk kvvrprtpls apcvatrnsc kppapaccdp cascqcrffr
      121 sacscrvlsl nc
//
LOCUS       XP_054201977             274 aa            linear   PRI 20-MAR-2023
DEFINITION  palmitoyltransferase ZDHHC23 isoform X8 [Homo sapiens].
ACCESSION   XP_054201977
VERSION     XP_054201977.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346002.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 7% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..274
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..274
                     /product="palmitoyltransferase ZDHHC23 isoform X8"
                     /calculated_mol_wt=30603
     CDS             1..274
                     /gene="ZDHHC23"
                     /gene_synonym="DHHC-23; NIDD"
                     /coded_by="XM_054346002.1:576..1400"
                     /db_xref="GeneID:254887"
                     /db_xref="HGNC:HGNC:28654"
                     /db_xref="MIM:617334"
ORIGIN      
        1 mgkrttwllv cvivkiwmkg vialhrakkn pgylsnpasg drslsssqle clsrkgqekt
       61 kgfpgadmsg slnnrttkdd pkgsskmpag sptkakedwc akcqlvrpar awhcricgic
      121 vrrmdhhcvw inscvgesnh qafilallif lltsvygitl tldticrdrs vftalfycpg
      181 vyanyssals ftcvwysvii tagmayifli qlinisynvt erevqqalrq ktgrrllcgl
      241 ivdtgqynrg flrnwhqfst lgtrafhhpa ediv
//
LOCUS       XP_054203074            1706 aa            linear   PRI 20-MAR-2023
DEFINITION  protein polybromo-1 isoform X14 [Homo sapiens].
ACCESSION   XP_054203074
VERSION     XP_054203074.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347099.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1706
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1706
                     /product="protein polybromo-1 isoform X14"
                     /calculated_mol_wt=194664
     CDS             1..1706
                     /gene="PBRM1"
                     /gene_synonym="BAF180; PB1; RCC; SMARCH1"
                     /coded_by="XM_054347099.1:385..5505"
                     /db_xref="GeneID:55193"
                     /db_xref="HGNC:HGNC:30064"
                     /db_xref="MIM:606083"
ORIGIN      
        1 mrrlafrgag calkkldsmg skrrratsps ssvsgdfddg hhsvstpgps rkrrrlsnlp
       61 tvdpiavche lyntirdykd eqgrllcelf irapkrrnqp dyyevvsqpi dlmkiqqklk
      121 meeyddvnll tadfqllfnn aksyykpdsp eykaacklwd lylrtrnefv qkgeaddedd
      181 dedgqdnqgt vtegsspayl keileqllea ivvatnpsgr liselfqklp skvqypdyya
      241 iikepidlkt iaqriqngsy ksihamakdi dllaknakty nepgsqvfkd ansikkifym
      301 kkaeiehhem aksslrmrtp snlaaarltg pshskgslge ernptskyyr nkravqggrl
      361 saitmalqyg seseedaala aaryeegese aesitsfmdv snpfyqlydt vrscrnnqgq
      421 liaepfyhlp skkkypdyyq qikmpislqq irtklknqey etldhlecdl nlmfenakry
      481 nvpnsaiykr vlklqqvmqa kkkelarrdd iedgdsmiss atsdtgsakr kskknirkqr
      541 mkilfnvvle arepgsgrrl cdlfmvkpsk kdypdyykii lepmdlkiie hnirndkyag
      601 eegmiedmkl mfrnarhyne egsqvyndah ilekllkekr kelgplpddd dmaspklkls
      661 rksgispkks kymtpmqqkl nevyeavkny tdkrgrrlsa iflrlpsrse lpdyyltikk
      721 pmdmekirsh mmankyqdid smvedfvmmf nnactynepe sliykdalvl hkvlletrrd
      781 legdedshvp nvtlliqeli hnlfvsvmsh qddegrcysd slaeipavdp nfpnkppltf
      841 diirknvenn ryrrldlfqe hmfevlerar rmnrtdseiy edavelqqff ikirdelckn
      901 geillspals yttkhlhndv ekerkeklpk eieedklkre eekraeksed ssgaaglsgl
      961 hrtysqdcsf knsmyhvgdy vyvepaeanl qphivcierl wedsagekwl ygcwfyrpne
     1021 tfhlatrkfl ekevfksdyy nkvpvskilg kcvvmfvkey fklcpenfrd edvfvcesry
     1081 saktksfkki klwtmpissv rfvprdvplp vvrvasvfan adkgddeknt dnsedsraed
     1141 nfnlekeked vpvemsngep gchyfeqlhy ndmwlkvgdc vfikshglvr prvgriekvw
     1201 vrdgaayfyg pifihpeete heptkmfykk evflsnleet cpmtcilgkc avlsfkdfls
     1261 crpteipend illcesryne sdkqmkkfkg lkrfslsakv vddeiyyfrk pivpqkepsp
     1321 llekkiqlle akfaeleggd ddieemgeed sevieppslp qlqtplasel dlmpytppqs
     1381 tpksakgsak kegskrkinm sgyilfssem ravikaqhpd ysfgelsrlv gtewrnleta
     1441 kkaeyeeraa kvaeqqerer aaqqqqpsas pragtpvgal mgvvppptpm gmlnqqltpv
     1501 agmmggyppg lpplqgpvdg lvsmgsmqpl hpggppphhl ppgvpglpgi pppgvmnqgv
     1561 apmvgtpapg gspygqqvgv lgppgqqapp pypgphpagp pviqqpttpm fvapppktqr
     1621 llhseaylky ieglsaesns iskwdqtlaa rrrdvhlske qesrlpshwl kskgahttma
     1681 dalwrlrdlm lrdtlnirqa ynlenv
//
LOCUS       XP_054213865             241 aa            linear   PRI 20-MAR-2023
DEFINITION  thiamin pyrophosphokinase 1 isoform X18 [Homo sapiens].
ACCESSION   XP_054213865
VERSION     XP_054213865.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357890.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..241
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..241
                     /product="thiamin pyrophosphokinase 1 isoform X18"
                     /calculated_mol_wt=27382
     CDS             1..241
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /coded_by="XM_054357890.1:107..832"
                     /db_xref="GeneID:27010"
                     /db_xref="HGNC:HGNC:17358"
                     /db_xref="MIM:606370"
ORIGIN      
        1 mehaftplep llstgnlkyc lvilnqpldn yfrhlwnkal lracadggan rlyditeger
       61 esflpefing dfdsirpevr eyyatkgcel istpdqdhtd ftkclkmlqk kieekdlkvd
      121 vivtlgglag rfdqimasvn tlfqathitp fpiiiiqees liyllqpgkh rlhvdtgmeg
      181 dwcglipvgq pcmqvtttgl kwnlrtcdyt rttwiakdnp vprlirlirl nhickvplai
      241 k
//
LOCUS       XP_054214781             375 aa            linear   PRI 20-MAR-2023
DEFINITION  sonic hedgehog protein isoform X1 [Homo sapiens].
ACCESSION   XP_054214781
VERSION     XP_054214781.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358806.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..375
                     /product="sonic hedgehog protein isoform X1"
                     /calculated_mol_wt=39629
     CDS             1..375
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /coded_by="XM_054358806.1:520..1647"
                     /db_xref="GeneID:6469"
                     /db_xref="HGNC:HGNC:10848"
                     /db_xref="MIM:600725"
ORIGIN      
        1 mlslfpspgp gssrckdkln alaisvmnqw pgvklrvteg wdedghhsee slhyegravd
       61 ittsdrdrsk ygmlarlave agfdwvyyes kahihcsvka ensvaaksgg cfpgsatvhl
      121 eqggtklvkd lspgdrvlaa ddqgrllysd fltfldrddg akkvfyviet reprerlllt
      181 aahllfvaph ndsatgepea ssgsgppsgg algpralfas rvrpgqrvyv vaerdgdrrl
      241 lpaavhsvtl seeaagayap ltaqgtilin rvlascyavi eehswahraf apfrlahall
      301 aalapartdr ggdsgggdrg ggggrvalta pgaadapgag atagihwysq llyqigtwll
      361 dsealhplgm avkss
//
LOCUS       XP_054216314             618 aa            linear   PRI 20-MAR-2023
DEFINITION  probable C-mannosyltransferase DPY19L4 isoform X7 [Homo sapiens].
ACCESSION   XP_054216314
VERSION     XP_054216314.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360339.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..618
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..618
                     /product="probable C-mannosyltransferase DPY19L4 isoform
                     X7"
                     /calculated_mol_wt=71384
     CDS             1..618
                     /gene="DPY19L4"
                     /coded_by="XM_054360339.1:100..1956"
                     /db_xref="GeneID:286148"
                     /db_xref="HGNC:HGNC:27829"
                     /db_xref="MIM:613895"
ORIGIN      
        1 maeeegppve lrqrkkpkss enkesakeek isdipipera pkrvyelthn nktvslktin
       61 avqqmslype liasilyqat gsneiiepvy fyigivfglq giyvtalfvt swlmsgtwla
      121 gmltvawfvi nrvdttriey siplrenwal pyfacqiaal tgylksnlnt ygerfcyllm
      181 sastytfmmm weyshyllfl qaislflldt fsveqsdkvy evykiyifsl flgyllqfen
      241 pallvsplls lvaalmlakc lqmfvphken ghmlkflevk fglnmtknft mnwllcqesl
      301 qapsqdfflr ltqssllpfy ilvliicfls mlqvifrrin gkslketvtl edgrigerpe
      361 iiyhvihtil lgslamvieg lkyiwipyvc mlaafgvcsp elwmtlfkwl rlrtvhpill
      421 alilsmavpt iiglslwkef fprlmtelme lqefydpdtv elmtwikrqa pvaavfagsp
      481 qlmgaiklct gwmvtslply ndddllkrne niyqiyskrs aediykilts ykanylived
      541 aicnevgpmr gcrvkdlldi anghmvceeg dkltyskygr fchevkinys pyvnyftrvy
      601 wnrsyfvyki ntvisfqs
//
LOCUS       XP_054217672             326 aa            linear   PRI 20-MAR-2023
DEFINITION  rab9 effector protein with kelch motifs isoform X4 [Homo sapiens].
ACCESSION   XP_054217672
VERSION     XP_054217672.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361697.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..326
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..326
                     /product="rab9 effector protein with kelch motifs isoform
                     X4"
                     /calculated_mol_wt=35557
     CDS             1..326
                     /gene="RABEPK"
                     /gene_synonym="bA65N13.1; p40; RAB9P40"
                     /coded_by="XM_054361697.1:234..1214"
                     /db_xref="GeneID:10244"
                     /db_xref="HGNC:HGNC:16896"
                     /db_xref="MIM:605962"
ORIGIN      
        1 mqeivedtmk qlpvlepgdk prkatwytlt vpgdspcarv ghscsylppv gnakrgkvfi
       61 vgganpnrsf sdvhtmdlgk hqwdldtckg llpryehasf ipsctpdriw vfgganqsgn
      121 rnclqvlnpd tltwsqpetl gnppsprhgh vmvaagtklf ihgglagdrf yddlhcidis
      181 dmkwqklnpt gaapagcaah savamgkhvy ifggmtpaga ldtmyqyhte eqhwtllkfd
      241 tllppgrldh smciipwpvt casekedsns ltlnheaeke dsadkvmshs gdsheesqta
      301 tllclvfggm ntegeiyddc ivtvvd
//
LOCUS       XP_054219794            1272 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase EHMT1 isoform X27 [Homo
            sapiens].
ACCESSION   XP_054219794
VERSION     XP_054219794.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363819.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1272
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1272
                     /product="histone-lysine N-methyltransferase EHMT1 isoform
                     X27"
                     /calculated_mol_wt=138522
     CDS             1..1272
                     /gene="EHMT1"
                     /gene_synonym="EHMT1-IT1; Eu-HMTase1; EUHMTASE1; FP13812;
                     GLP; GLP1; KLEFS1; KMT1D"
                     /coded_by="XM_054363819.1:25..3843"
                     /db_xref="GeneID:79813"
                     /db_xref="HGNC:HGNC:24650"
                     /db_xref="MIM:607001"
ORIGIN      
        1 maaadaeavp argepqqdcc vktellgeet pmaadegsae kqageahmaa dgetngscen
       61 sdasshanaa khtqdsarvn pqdgtntltr iaengvserd seaakqnhvt addfvqtsvi
      121 gsngyilnkp alqaqplrtt stlasslpgh aaktlpggag kgrtpsafpq tpaappatlg
      181 egsadtedrk lpapgadvkv hrarktmpks vvglhaaskd prevreardh kepkeeinkn
      241 isdfgrqqll ppfpslhqsl pqnqcymatt ksqtaclpfv laaavsrkkk rrmgtyslvp
      301 kkktkvlkqr tviemfksit hstvgskgek dlgasslhvn geslemdsde ddseeleedd
      361 ghgaeqaaaf ptedsrtske smseadraqk ssessikkkf lkrkgktdsp wikparkrrr
      421 rsrkkpsgal gsesykssag saeqtapgds tgymevslds ldlrvkgils sqaeglangp
      481 dvletdglqe vplcscrmet pksreittla nnqcmatesv dhelgrctns vvkyelmrps
      541 nkapllvlce dhrgrmvkhq ccpgcgyfct agnfmecqpe ssishrfhkd casrvnnasy
      601 cphcgeessk akevtiakad ttstvtpvpg qekgsalegr adtttgsaag pplseddklq
      661 gaashvpegf dptgpaglgr ptpglsqgpg ketlesalia ldsekpkklr fhpkqlyfsa
      721 rqgelqkvll mlvdgidpnf kmehqnkrsp lhaaaeaghv dichmlvqag anidtcsedq
      781 rtplmeaaen nhleavkyli kagalvdpkd aegstclhla akkghyevvq yllsngqmdv
      841 ncqddggwtp miwateykhv dlvklllskg sdinirdnee niclhwaafs gcvdiaeill
      901 aakcdlhavn ihgdsplhia arenrydcvv lflsrdsdvt lknkegetpl qcaslnsqvw
      961 salqmskalq dsapdrpspv erivsrdiar gyeripipcv navdsepcps nykyvsqncv
     1021 tspmnidrni thlqycvcid dcsssncmcg qlsmrcwydk dgrllpefnm aepplifecn
     1081 hacscwrncr nrvvqnglra rlqlyrtrdm gwgvrslqdi ppgtfvceyv gelisdsead
     1141 vreedsylfd ldnkdgevyc idarfygnvs rfinhhcepn lvpvrvfmah qdlrfpriaf
     1201 fstrlieage qlgfdygerf wdikgklfsc rcgspkcrhs saalaqrqas aaqeaqedgl
     1261 pdtssaaaad pl
//
LOCUS       XP_054182651             117 aa            linear   PRI 20-MAR-2023
DEFINITION  integrator complex subunit 6-like isoform X16 [Homo sapiens].
ACCESSION   XP_054182651
VERSION     XP_054182651.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326676.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..117
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..117
                     /product="integrator complex subunit 6-like isoform X16"
                     /calculated_mol_wt=12955
     CDS             1..117
                     /gene="INTS6L"
                     /gene_synonym="DDX26B"
                     /coded_by="XM_054326676.1:334..687"
                     /db_xref="GeneID:203522"
                     /db_xref="HGNC:HGNC:27334"
ORIGIN      
        1 mpillflidt sasmnqrtdl gtsyldiakg avelflklra rdpasrgdry mlvtydeppy
       61 cikagwkenh atfmselknl qasglttlgq alrssfdlln lnrlisgidn ygqvkii
//
LOCUS       XP_054183052             402 aa            linear   PRI 20-MAR-2023
DEFINITION  arylsulfatase L isoform X5 [Homo sapiens].
ACCESSION   XP_054183052
VERSION     XP_054183052.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327077.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..402
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..402
                     /product="arylsulfatase L isoform X5"
                     /calculated_mol_wt=44265
     CDS             1..402
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /coded_by="XM_054327077.1:139..1347"
                     /db_xref="GeneID:415"
                     /db_xref="HGNC:HGNC:719"
                     /db_xref="MIM:300180"
ORIGIN      
        1 mlhlhhsclc frswlpamla vllslapsas sdisasrpni lllmaddlgi gdigcygnnt
       61 mrtpnidrla edgvkltqhi saaslctpsr aafltgrypv rsgmvssigy rvlqwtgasg
      121 glptnettfa kilkekgyat gligrildtl dveglsnstl iyftsdhggs lenqlgntqy
      181 ggwngiykgg kgmggweggi rvpgifrwpg vlpagrvige ptslmdvfpt vvrlagsevp
      241 qdrvidgqdl lplllgtaqh sdheflmhyc erflhaarwh qrdrgtmwkv hfvtpvfqpe
      301 gagacygrkv cpcfgekvvh hdppllfdls rdpsethilt pasepvfyqv mervqqavwe
      361 hqrtlspvpl qldrlgniwr pwlqpccgpf plcwclredd pq
//
LOCUS       NP_001135788             158 aa            linear   PRI 23-MAR-2023
DEFINITION  rhombotin-2 isoform 2 [Homo sapiens].
ACCESSION   NP_001135788
VERSION     NP_001135788.1
DBSOURCE    REFSEQ: accession NM_001142316.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 158)
  AUTHORS   Wang H, Wang J, Li R and Zhu Z.
  TITLE     Potential link of single nucleotide polymorphisms within LMO2 to
            the risk of cervical squamous-cell carcinoma in Chinese populations
  JOURNAL   Asian J Surg 46 (2), 1139-1141 (2023)
   PUBMED   35999096
  REMARK    GeneRIF: Potential link of single nucleotide polymorphisms within
            LMO2 to the risk of cervical squamous-cell carcinoma in Chinese
            populations.
REFERENCE   2  (residues 1 to 158)
  AUTHORS   Pan X, Liu D, Ying M, Zheng G, Fan C, Pan F and Ke Q.
  TITLE     PAK5 is a potential target in myelodysplastic syndrome through
            interacting with LMO2 and GATA1
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 68 (9), 77-85 (2022)
   PUBMED   36905268
  REMARK    GeneRIF: PAK5 is a potential target in myelodysplastic syndrome
            through interacting with LMO2 and GATA1.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 158)
  AUTHORS   Latchmansingh KA, Wang X, Verdun RE, Marques-Piubelli ML, Vega F,
            You MJ, Chapman J and Lossos IS.
  TITLE     LMO2 expression is frequent in T-lymphoblastic leukemia and
            correlates with survival, regardless of T-cell stage
  JOURNAL   Mod Pathol 35 (9), 1220-1226 (2022)
   PUBMED   35322192
  REMARK    GeneRIF: LMO2 expression is frequent in T-lymphoblastic leukemia
            and correlates with survival, regardless of T-cell stage.
REFERENCE   4  (residues 1 to 158)
  AUTHORS   Chen Y, Meng Y, Yu Y, Li W, Shen Y, Li S, Chang Y and Sun W.
  TITLE     LMO2 plays differential roles in trophoblast subtypes and is
            associated with preeclampsia
  JOURNAL   Biochem Biophys Res Commun 604, 43-50 (2022)
   PUBMED   35286869
  REMARK    GeneRIF: LMO2 plays differential roles in trophoblast subtypes and
            is associated with preeclampsia.
REFERENCE   5  (residues 1 to 158)
  AUTHORS   Sheng D, Zhang Y, Xue T, Zhou XY and Li XQ.
  TITLE     Identification of LMO2 as a new marker for acinic cell carcinoma of
            salivary gland
  JOURNAL   Diagn Pathol 17 (1), 15 (2022)
   PUBMED   35094691
  REMARK    GeneRIF: Identification of LMO2 as a new marker for acinic cell
            carcinoma of salivary gland.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 158)
  AUTHORS   Dong WF, Xu Y, Hu QL, Munroe D, Minowada J, Housman DE and Minden
            MD.
  TITLE     Molecular characterization of a chromosome translocation breakpoint
            t(11;14)(p13;q11) from the cell line KOPT-K1
  JOURNAL   Leukemia 9 (11), 1812-1817 (1995)
   PUBMED   7475267
REFERENCE   7  (residues 1 to 158)
  AUTHORS   Osada H, Grutz G, Axelson H, Forster A and Rabbitts TH.
  TITLE     Association of erythroid transcription factors: complexes involving
            the LIM protein RBTN2 and the zinc-finger protein GATA1
  JOURNAL   Proc Natl Acad Sci U S A 92 (21), 9585-9589 (1995)
   PUBMED   7568177
REFERENCE   8  (residues 1 to 158)
  AUTHORS   Royer-Pokora B, Loos U and Ludwig WD.
  TITLE     TTG-2, a new gene encoding a cysteine-rich protein with the LIM
            motif, is overexpressed in acute T-cell leukaemia with the
            t(11;14)(p13;q11)
  JOURNAL   Oncogene 6 (10), 1887-1893 (1991)
   PUBMED   1923511
REFERENCE   9  (residues 1 to 158)
  AUTHORS   Boehm T, Foroni L, Kaneko Y, Perutz MF and Rabbitts TH.
  TITLE     The rhombotin family of cysteine-rich LIM-domain oncogenes:
            distinct members are involved in T-cell translocations to human
            chromosomes 11p15 and 11p13
  JOURNAL   Proc Natl Acad Sci U S A 88 (10), 4367-4371 (1991)
   PUBMED   2034676
REFERENCE   10 (residues 1 to 158)
  AUTHORS   Boehm T, Spillantini MG, Sofroniew MV, Surani MA and Rabbitts TH.
  TITLE     Developmentally regulated and tissue specific expression of mRNAs
            encoding the two alternative forms of the LIM domain oncogene
            rhombotin: evidence for thymus expression
  JOURNAL   Oncogene 6 (5), 695-703 (1991)
   PUBMED   2052354
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC132216.7, BC035607.1,
            AC113192.3 and X61118.1.
            
            Summary: LMO2 encodes a cysteine-rich, two LIM-domain protein that
            is required for yolk sac erythropoiesis. The LMO2 protein has a
            central and crucial role in hematopoietic development and is highly
            conserved. The LMO2 transcription start site is located
            approximately 25 kb downstream from the 11p13 T-cell translocation
            cluster (11p13 ttc), where a number T-cell acute lymphoblastic
            leukemia-specific translocations occur. Alternative splicing
            results in multiple transcript variants encoding different
            isoforms.[provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and has
            an additional segment downstream of the 5' coding region, compared
            to variant 1. These differences cause translation initiation at a
            downstream in-frame ATG and an isoform (2) with a shorter
            N-terminus, compared to isoform 1. Variants 2 and 3 encode the same
            isoform (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC042426.1, SRR1163657.113939.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..158
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     Protein         1..158
                     /product="rhombotin-2 isoform 2"
                     /note="T-cell translocation gene 2; rhombotin-like 1;
                     rhombotin-2; LIM domain only protein 2; cysteine-rich
                     protein TTG-2; T-cell translocation protein 2"
                     /calculated_mol_wt=18227
     Region          30..85
                     /region_name="LIM1_LMO2"
                     /note="The first LIM domain of LMO2 (LIM domain only
                     protein 2); cd09384"
                     /db_xref="CDD:188770"
     Site            order(30,33,51,54,57,60,80,83)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188770"
     Region          94..149
                     /region_name="LIM2_LMO2"
                     /note="The second LIM domain of LMO2 (LIM domain only
                     protein 2); cd09385"
                     /db_xref="CDD:188771"
     Site            order(94,97,116,119,122,125,144,147)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188771"
     CDS             1..158
                     /gene="LMO2"
                     /gene_synonym="LMO-2; RBTN2; RBTNL1; RHOM2; TTG2"
                     /coded_by="NM_001142316.2:493..969"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS44567.1"
                     /db_xref="GeneID:4005"
                     /db_xref="HGNC:HGNC:6642"
                     /db_xref="MIM:180385"
ORIGIN      
        1 mssaierksl dpseepvdev lqippslltc ggcqqnigdr yflkaidqyw hedclscdlc
       61 gcrlgevgrr lyyklgrklc rrdylrlfgq dglcascdkr irayemtmrv kdkvyhlecf
      121 kcaacqkhfc vgdryllins divceqdiye wtkingmi
//
LOCUS       NP_001393498             532 aa            linear   PRI 23-MAR-2023
DEFINITION  bone morphogenetic protein receptor type-1A isoform 3 precursor
            [Homo sapiens].
ACCESSION   NP_001393498
VERSION     NP_001393498.1
DBSOURCE    REFSEQ: accession NM_001406569.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 532)
  AUTHORS   Rosner G, Petel-Galil Y, Laish I, Levi Z, Kariv R, Strul H, Gilad O
            and Gluck N.
  TITLE     Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant
            Carriers
  JOURNAL   Clin Transl Gastroenterol 13 (10), e00527 (2022)
   PUBMED   36049049
  REMARK    GeneRIF: Adenomatous Polyposis Phenotype in BMPR1A and SMAD4
            Variant Carriers.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 532)
  AUTHORS   Jiang B, Zhao X, Chen W, Diao W, Ding M, Qin H, Li B, Cao W, Chen
            W, Fu Y, He K, Gao J, Chen M, Lin T, Deng Y, Yan C and Guo H.
  TITLE     Lysosomal protein transmembrane 5 promotes lung-specific metastasis
            by regulating BMPR1A lysosomal degradation
  JOURNAL   Nat Commun 13 (1), 4141 (2022)
   PUBMED   35842443
  REMARK    GeneRIF: Lysosomal protein transmembrane 5 promotes lung-specific
            metastasis by regulating BMPR1A lysosomal degradation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 532)
  AUTHORS   Qiao Q, Xu L, Li Q, Wang Y, Lu H, Zhao N, Pu Y, Wang L, Guo Y and
            Guo C.
  TITLE     Bone morphogenetic protein receptor 1alpha promotes osteolytic
            lesion of oral squamous cell carcinoma by SHH-dependent
            osteoclastogenesis
  JOURNAL   Cancer Sci 113 (5), 1639-1651 (2022)
   PUBMED   35279920
  REMARK    GeneRIF: Bone morphogenetic protein receptor 1alpha promotes
            osteolytic lesion of oral squamous cell carcinoma by SHH-dependent
            osteoclastogenesis.
REFERENCE   4  (residues 1 to 532)
  AUTHORS   Huang T, Wu Q, Huang H, Zhang C, Wang L, Wang L, Liu Y, Li W, Zhang
            J and Liu Y.
  TITLE     Expression of GALNT8 and O-glycosylation of BMP receptor 1A
            suppress breast cancer cell proliferation by upregulating ERalpha
            levels
  JOURNAL   Biochim Biophys Acta Gen Subj 1866 (1), 130046 (2022)
   PUBMED   34743989
  REMARK    GeneRIF: Expression of GALNT8 and O-glycosylation of BMP receptor
            1A suppress breast cancer cell proliferation by upregulating
            ERalpha levels.
REFERENCE   5  (residues 1 to 532)
  AUTHORS   Chauvin M, Garambois V, Choblet S, Colombo PE, Chentouf M, Gros L,
            De Brauwere DP, Duonor-Cerutti M, Dumas K, Robert B, Jarlier M,
            Martineau P, Navarro-Teulon I, Pepin D, Chardes T and Pelegrin A.
  TITLE     Anti-Mullerian hormone concentration regulates activin
            receptor-like kinase-2/3 expression levels with opposing effects on
            ovarian cancer cell survival
  JOURNAL   Int J Oncol 59 (1) (2021)
   PUBMED   34013359
  REMARK    GeneRIF: Anti-Mullerian hormone concentration regulates activin
            receptor-like kinase-2/3 expression levels with opposing effects on
            ovarian cancer cell survival.
REFERENCE   6  (residues 1 to 532)
  AUTHORS   Yamada N, Kato M, ten Dijke P, Yamashita H, Sampath TK, Heldin CH,
            Miyazono K and Funa K.
  TITLE     Bone morphogenetic protein type IB receptor is progressively
            expressed in malignant glioma tumours
  JOURNAL   Br J Cancer 73 (5), 624-629 (1996)
   PUBMED   8605097
REFERENCE   7  (residues 1 to 532)
  AUTHORS   Ishidou Y, Kitajima I, Obama H, Maruyama I, Murata F, Imamura T,
            Yamada N, ten Dijke P, Miyazono K and Sakou T.
  TITLE     Enhanced expression of type I receptors for bone morphogenetic
            proteins during bone formation
  JOURNAL   J Bone Miner Res 10 (11), 1651-1659 (1995)
   PUBMED   8592941
REFERENCE   8  (residues 1 to 532)
  AUTHORS   Liu F, Ventura F, Doody J and Massague J.
  TITLE     Human type II receptor for bone morphogenic proteins (BMPs):
            extension of the two-kinase receptor model to the BMPs
  JOURNAL   Mol Cell Biol 15 (7), 3479-3486 (1995)
   PUBMED   7791754
REFERENCE   9  (residues 1 to 532)
  AUTHORS   ten Dijke P, Ichijo H, Franzen P, Schulz P, Saras J, Toyoshima H,
            Heldin CH and Miyazono K.
  TITLE     Activin receptor-like kinases: a novel subclass of cell-surface
            receptors with predicted serine/threonine kinase activity
  JOURNAL   Oncogene 8 (10), 2879-2887 (1993)
   PUBMED   8397373
REFERENCE   10 (residues 1 to 532)
  AUTHORS   Larsen Haidle,J., MacFarland,S.P. and Howe,J.R.
  TITLE     Juvenile Polyposis Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301642
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067750.5, AC021036.6 and
            AC025268.8.
            
            Summary: The bone morphogenetic protein (BMP) receptors are a
            family of transmembrane serine/threonine kinases that include the
            type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2.
            These receptors are also closely related to the activin receptors,
            ACVR1 and ACVR2. The ligands of these receptors are members of the
            TGF-beta superfamily. TGF-betas and activins transduce their
            signals through the formation of heteromeric complexes with 2
            different types of serine (threonine) kinase receptors: type I
            receptors of about 50-55 kD and type II receptors of about 70-80
            kD. Type II receptors bind ligands in the absence of type I
            receptors, but they require their respective type I receptors for
            signaling, whereas type I receptors require their respective type
            II receptors for ligand binding. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.1332216.1,
                                           SRR14372079.922828.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467143 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..532
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.2"
     Protein         1..532
                     /product="bone morphogenetic protein receptor type-1A
                     isoform 3 precursor"
                     /EC_number="2.7.11.30"
                     /note="serine/threonine-protein kinase receptor R5;
                     activin A receptor, type II-like kinase 3; BMP type-1A
                     receptor; activin receptor-like kinase 3; bone
                     morphogenetic protein receptor, type IA"
                     /calculated_mol_wt=57488
     sig_peptide     1..23
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P36894.2)"
                     /calculated_mol_wt=2728
     mat_peptide     24..532
                     /product="Bone morphogenetic protein receptor type-1A.
                     /id=PRO_0000024410"
                     /note="propagated from UniProtKB/Swiss-Prot (P36894.2)"
                     /calculated_mol_wt=57488
     Region          59..132
                     /region_name="Activin_recp"
                     /note="Activin types I and II receptor domain; pfam01064"
                     /db_xref="CDD:426025"
     Site            73
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P36894.2)"
     Region          107..109
                     /region_name="Mediates specificity for BMP ligand.
                     /evidence=ECO:0000269|PubMed:22799562"
                     /note="propagated from UniProtKB/Swiss-Prot (P36894.2)"
     Site            153..176
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P36894.2)"
     Region          205..232
                     /region_name="TGF_beta_GS"
                     /note="Transforming growth factor beta type I GS-motif;
                     pfam08515"
                     /db_xref="CDD:430045"
     Region          238..524
                     /region_name="STKc_BMPR1a"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Bone Morphogenetic Protein Type IA Receptor; cd14220"
                     /db_xref="CDD:271122"
     Site            order(240..244,248,259,261,289,309..312,316,318,362,364,
                     366..367,369,380,383,403..406)
                     /site_type="active"
                     /db_xref="CDD:271122"
     Site            order(240..246,248,259,261,309..310,312,316,366..367,369,
                     380)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271122"
     Site            order(244,316,318,362,364,366,383,403..406)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271122"
     Site            order(271..272,275..276,279,294,296)
                     /site_type="other"
                     /note="FKBP12 binding site [polypeptide binding]"
                     /db_xref="CDD:271122"
     Site            379..406
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271122"
     CDS             1..532
                     /gene="BMPR1A"
                     /gene_synonym="10q23del; ACVRLK3; ALK-3; ALK3; BMPR-1A;
                     CD292; SKR5"
                     /coded_by="NM_001406569.1:883..2481"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 12"
                     /db_xref="GeneID:657"
                     /db_xref="HGNC:HGNC:1076"
                     /db_xref="MIM:601299"
ORIGIN      
        1 mpqlyiyirl lgaylfiisr vqgqnldsml hgtgmksdsd qkksengvtl apedtlpflk
       61 cycsghcpdd ainntcitng hcfaiieedd qgettlasgc mkyegsdfqc kdspkaqlrr
      121 tieccrtnlc nqylqptlpp vvigpffdgs irwlvllism avciiamiif sscfcykhyc
      181 ksissrrryn rdleqdeafi pvgeslkdli dqsqssgsgs glpllvqrti akqiqmvrqv
      241 gkgrygevwm gkwrgekvav kvfftteeas wfreteiyqt vlmrhenilg fiaadikgtg
      301 swtqlylitd yhengslydf lkcatldtra llklaysaac glchlhteiy gtqgkpaiah
      361 rdlksknili kkngscciad lglavkfnsd tnevdvplnt rvgtkrymap evldeslnkn
      421 hfqpyimadi ysfgliiwem arrcitggiv eeyqlpyynm vpsdpsyedm revvcvkrlr
      481 pivsnrwnsd eclravlklm secwahnpas rltalrikkt lakmvesqdv ki
//
LOCUS       NP_001397121             248 aa            linear   PRI 24-MAR-2023
DEFINITION  bifunctional methylenetetrahydrofolate
            dehydrogenase/cyclohydrolase, mitochondrial isoform B [Homo
            sapiens].
ACCESSION   NP_001397121 NP_001035499
VERSION     NP_001397121.1
DBSOURCE    REFSEQ: accession NM_001410192.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 248)
  AUTHORS   Huang M, Xue J, Chen Z, Zhou X, Chen M, Sun J, Xu Z, Wang S, Xu H,
            Du Z and Liu M.
  TITLE     MTHFD2 suppresses glioblastoma progression via the inhibition of
            ERK1/2 phosphorylation
  JOURNAL   Biochem Cell Biol 101 (1), 112-124 (2023)
   PUBMED   36493392
  REMARK    GeneRIF: MTHFD2 suppresses glioblastoma progression via the
            inhibition of ERK1/2 phosphorylation.
REFERENCE   2  (residues 1 to 248)
  AUTHORS   Deng X, Liu X, Hu B, Liu J, Fu B and Zhang W.
  TITLE     Upregulation of MTHFD2 is associated with PD-L1 activation in
            bladder cancer via the PI3K/AKT pathway
  JOURNAL   Int J Mol Med 51 (2) (2023)
   PUBMED   36601741
  REMARK    GeneRIF: Upregulation of MTHFD2 is associated with PDL1 activation
            in bladder cancer via the PI3K/AKT pathway.
REFERENCE   3  (residues 1 to 248)
  AUTHORS   Zhu Z, Kiang KM, Li N, Liu J, Zhang P, Jin L, He X, Zhang S and
            Leung GK.
  TITLE     Folate enzyme MTHFD2 links one-carbon metabolism to unfolded
            protein response in glioblastoma
  JOURNAL   Cancer Lett 549, 215903 (2022)
   PUBMED   36089117
  REMARK    GeneRIF: Folate enzyme MTHFD2 links one-carbon metabolism to
            unfolded protein response in glioblastoma.
REFERENCE   4  (residues 1 to 248)
  AUTHORS   Achreja A, Yu T, Mittal A, Choppara S, Animasahun O, Nenwani M,
            Wuchu F, Meurs N, Mohan A, Jeon JH, Sarangi I, Jayaraman A, Owen S,
            Kulkarni R, Cusato M, Weinberg F, Kweon HK, Subramanian C, Wicha
            MS, Merajver SD, Nagrath S, Cho KR, DiFeo A, Lu X and Nagrath D.
  TITLE     Metabolic collateral lethal target identification reveals MTHFD2
            paralogue dependency in ovarian cancer
  JOURNAL   Nat Metab 4 (9), 1119-1137 (2022)
   PUBMED   36131208
  REMARK    GeneRIF: Metabolic collateral lethal target identification reveals
            MTHFD2 paralogue dependency in ovarian cancer.
REFERENCE   5  (residues 1 to 248)
  AUTHORS   Gao Y, Feng L, Zhang L, Geng J and Zhang E.
  TITLE     ATF4/MYC Regulates MTHFD2 to Promote NSCLC Progression by Mediating
            Redox Homeostasis
  JOURNAL   Dis Markers 2022, 7527996 (2022)
   PUBMED   36051358
  REMARK    GeneRIF: ATF4/MYC Regulates MTHFD2 to Promote NSCLC Progression by
            Mediating Redox Homeostasis.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 248)
  AUTHORS   Di Pietro E, Wang XL and MacKenzie RE.
  TITLE     The expression of mitochondrial methylenetetrahydrofolate
            dehydrogenase-cyclohydrolase supports a role in rapid cell growth
  JOURNAL   Biochim Biophys Acta 1674 (1), 78-84 (2004)
   PUBMED   15342116
REFERENCE   7  (residues 1 to 248)
  AUTHORS   Pawelek PD and MacKenzie RE.
  TITLE     Methenyltetrahydrofolate cyclohydrolase is rate limiting for the
            enzymatic conversion of 10-formyltetrahydrofolate to
            5,10-methylenetetrahydrofolate in bifunctional
            dehydrogenase-cyclohydrolase enzymes
  JOURNAL   Biochemistry 37 (4), 1109-1115 (1998)
   PUBMED   9454603
REFERENCE   8  (residues 1 to 248)
  AUTHORS   Kokame K, Kato H and Miyata T.
  TITLE     Homocysteine-respondent genes in vascular endothelial cells
            identified by differential display analysis. GRP78/BiP and novel
            genes
  JOURNAL   J Biol Chem 271 (47), 29659-29665 (1996)
   PUBMED   8939898
REFERENCE   9  (residues 1 to 248)
  AUTHORS   Yang XM and MacKenzie RE.
  TITLE     NAD-dependent methylenetetrahydrofolate
            dehydrogenase-methenyltetrahydrofolate cyclohydrolase is the
            mammalian homolog of the mitochondrial enzyme encoded by the yeast
            MIS1 gene
  JOURNAL   Biochemistry 32 (41), 11118-11123 (1993)
   PUBMED   8218174
REFERENCE   10 (residues 1 to 248)
  AUTHORS   Peri KG, Belanger C and Mackenzie RE.
  TITLE     Nucleotide sequence of the human NAD-dependent methylene
            tetrahydrofolate dehydrogenase-cyclohydrolase
  JOURNAL   Nucleic Acids Res 17 (21), 8853 (1989)
   PUBMED   2587219
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073263.5.
            On Jul 29, 2022 this sequence version replaced NP_001035499.1.
            
            Summary: This gene encodes a nuclear-encoded mitochondrial
            bifunctional enzyme with methylenetetrahydrofolate dehydrogenase
            and methenyltetrahydrofolate cyclohydrolase activities. The enzyme
            functions as a homodimer and is unique in its absolute requirement
            for magnesium and inorganic phosphate. Formation of the
            enzyme-magnesium complex allows binding of NAD. Alternative
            splicing results in two different transcripts, one protein-coding
            and the other not protein-coding. This gene has a pseudogene on
            chromosome 7. [provided by RefSeq, Mar 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.16881.1,
                                           SRR11853560.16113.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..248
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     Protein         1..248
                     /product="bifunctional methylenetetrahydrofolate
                     dehydrogenase/cyclohydrolase, mitochondrial isoform B"
                     /EC_number="3.5.4.9"
                     /EC_number="1.5.1.15"
                     /note="NAD-dependent methylene tetrahydrofolate
                     dehydrogenase cyclohydrolase; bifunctional
                     methylenetetrahydrofolate dehydrogenase/cyclohydrolase,
                     mitochondrial"
                     /calculated_mol_wt=26718
     Region          <3..232
                     /region_name="FolD"
                     /note="5,10-methylene-tetrahydrofolate
                     dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase
                     [Coenzyme transport and metabolism]; COG0190"
                     /db_xref="CDD:223268"
     CDS             1..248
                     /gene="MTHFD2"
                     /gene_synonym="NMDMC"
                     /coded_by="NM_001410192.1:432..1178"
                     /note="isoform B is encoded by transcript variant 2"
                     /db_xref="GeneID:10797"
                     /db_xref="HGNC:HGNC:7434"
                     /db_xref="MIM:604887"
ORIGIN      
        1 mkpasiseee llnlinklnn ddnvdgllvq lplpehider ricnavspdk dvdgfhvinv
       61 grmcldqysm lpatpwgvwe iikrtgiptl gknvvvagrs knvgmpiaml lhtdgaherp
      121 ggdatvtish rytpkeqlkk htiladivis aagipnlita dmikegaavi dvginrvhdp
      181 vtakpklvgd vdfegvrqka gyitpvpggv gpmtvamlmk ntiiaakkvl rleerevlks
      241 kelgvatn
//
LOCUS       NP_001138620             401 aa            linear   PRI 26-MAR-2023
DEFINITION  corticotropin-releasing factor receptor 1 isoform 4 precursor [Homo
            sapiens].
ACCESSION   NP_001138620 XP_003403661 XP_003403662
VERSION     NP_001138620.1
DBSOURCE    REFSEQ: accession NM_001145148.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 401)
  AUTHORS   Ersig AL, Young EE, Brown RL and Malecki K.
  TITLE     Genetic Variation, Stress, and Physiological Stress Response in
            Adults With Food Allergy or Celiac Disease
  JOURNAL   Biol Res Nurs 25 (2), 300-309 (2023)
   PUBMED   36280595
  REMARK    GeneRIF: Genetic Variation, Stress, and Physiological Stress
            Response in Adults With Food Allergy or Celiac Disease.
REFERENCE   2  (residues 1 to 401)
  AUTHORS   Wu SV, Yuan PQ, Lai J, Wong K, Chen MC, Ohning GV and Tache Y.
  TITLE     Activation of Type 1 CRH receptor isoforms induces serotonin
            release from human carcinoid BON-1N cells: an enterochromaffin cell
            model
  JOURNAL   Endocrinology 152 (1), 126-137 (2011)
   PUBMED   21123435
  REMARK    GeneRIF: These findings define the expression of enterochromaffin
            cell-specific CRH(1) isoforms and activation of CRH(1)-dependent
            pathways leading to serotonin release and synthesis.
REFERENCE   3  (residues 1 to 401)
  AUTHORS   Hillhouse EW and Grammatopoulos DK.
  TITLE     The molecular mechanisms underlying the regulation of the
            biological activity of corticotropin-releasing hormone receptors:
            implications for physiology and pathophysiology
  JOURNAL   Endocr Rev 27 (3), 260-286 (2006)
   PUBMED   16484629
  REMARK    Review article
REFERENCE   4  (residues 1 to 401)
  AUTHORS   Parham KL, Zervou S, Karteris E, Catalano RD, Old RW and Hillhouse
            EW.
  TITLE     Promoter analysis of human corticotropin-releasing factor (CRF)
            type 1 receptor and regulation by CRF and urocortin
  JOURNAL   Endocrinology 145 (8), 3971-3983 (2004)
   PUBMED   15142984
REFERENCE   5  (residues 1 to 401)
  AUTHORS   Pisarchik A and Slominski AT.
  TITLE     Alternative splicing of CRH-R1 receptors in human and mouse skin:
            identification of new variants and their differential expression
  JOURNAL   FASEB J 15 (14), 2754-2756 (2001)
   PUBMED   11606483
REFERENCE   6  (residues 1 to 401)
  AUTHORS   Grammatopoulos DK, Dai Y, Randeva HS, Levine MA, Karteris E, Easton
            AJ and Hillhouse EW.
  TITLE     A novel spliced variant of the type 1 corticotropin-releasing
            hormone receptor with a deletion in the seventh transmembrane
            domain present in the human pregnant term myometrium and fetal
            membranes
  JOURNAL   Mol Endocrinol 13 (12), 2189-2202 (1999)
   PUBMED   10598591
REFERENCE   7  (residues 1 to 401)
  AUTHORS   McLean M, Bisits A, Davies J, Woods R, Lowry P and Smith R.
  TITLE     A placental clock controlling the length of human pregnancy
  JOURNAL   Nat Med 1 (5), 460-463 (1995)
   PUBMED   7585095
REFERENCE   8  (residues 1 to 401)
  AUTHORS   Ross PC, Kostas CM and Ramabhadran TV.
  TITLE     A variant of the human corticotropin-releasing factor (CRF)
            receptor: cloning, expression and pharmacology
  JOURNAL   Biochem Biophys Res Commun 205 (3), 1836-1842 (1994)
   PUBMED   7811272
REFERENCE   9  (residues 1 to 401)
  AUTHORS   Vita N, Laurent P, Lefort S, Chalon P, Lelias JM, Kaghad M, Le Fur
            G, Caput D and Ferrara P.
  TITLE     Primary structure and functional expression of mouse pituitary and
            human brain corticotrophin releasing factor receptors
  JOURNAL   FEBS Lett 335 (1), 1-5 (1993)
   PUBMED   8243652
REFERENCE   10 (residues 1 to 401)
  AUTHORS   Chen R, Lewis KA, Perrin MH and Vale WW.
  TITLE     Expression cloning of a human corticotropin-releasing-factor
            receptor
  JOURNAL   Proc Natl Acad Sci U S A 90 (19), 8967-8971 (1993)
   PUBMED   7692441
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF488558.1, AF180301.1,
            X72304.1 and CK299669.1.
            On or before Aug 4, 2011 this sequence version replaced
            XP_003403661.1, XP_003403662.1.
            
            Summary: This gene encodes a G-protein coupled receptor that binds
            neuropeptides of the corticotropin releasing hormone family that
            are major regulators of the hypothalamic-pituitary-adrenal pathway.
            The encoded protein is essential for the activation of signal
            transduction pathways that regulate diverse physiological processes
            including stress, reproduction, immune response and obesity.
            Alternative splicing results in multiple transcript variants.
            Naturally-occurring readthrough transcription between this gene and
            upstream GeneID:147081 results in transcripts that encode isoforms
            that share similarity with the products of this gene. [provided by
            RefSeq, Aug 2016].
            
            Transcript Variant: This variant (1d, also known as CRH-R1d), lacks
            an alternate in-frame exon in both the central and 3' coding
            regions, compared to variant. The encoded isoform (4) is shorter
            than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF180301.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..401
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..401
                     /product="corticotropin-releasing factor receptor 1
                     isoform 4 precursor"
                     /note="corticotropin-releasing factor type 1 receptor;
                     seven transmembrane helix receptor"
                     /calculated_mol_wt=43650
     sig_peptide     1..23
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2398
     Region          40..111
                     /region_name="HormR"
                     /note="Domain present in hormone receptors; smart00008"
                     /db_xref="CDD:214468"
     Region          116..366
                     /region_name="7tmB1_CRF-R1"
                     /note="corticotropin-releasing factor receptor 1, member
                     of the class B family of seven-transmembrane G
                     protein-coupled receptors; cd15445"
                     /db_xref="CDD:320561"
     Region          118..143
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320561"
     Site            order(123,127,169,172..173,176,189,196,268..269,271,273,
                     327,330,345,349)
                     /site_type="other"
                     /note="putative polypeptide ligand binding pocket
                     [polypeptide binding]"
                     /db_xref="CDD:320561"
     Region          152..174
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320561"
     Site            order(162,203,206..207,210,280,283..284,316,320,323,327)
                     /site_type="other"
                     /note="antagonist binding site [chemical binding]"
                     /db_xref="CDD:320561"
     Region          189..215
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320561"
     Region          228..248
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320561"
     Region          265..294
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320561"
     Region          308..335
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320561"
     CDS             1..401
                     /gene="CRHR1"
                     /gene_synonym="CRF-R; CRF-R-1; CRF-R1; CRF1; CRFR-1;
                     CRFR1; CRH-R-1; CRH-R1; CRHR; CRHR1L"
                     /coded_by="NM_001145148.2:226..1431"
                     /note="isoform 4 precursor is encoded by transcript
                     variant 1d"
                     /db_xref="CCDS:CCDS45713.1"
                     /db_xref="GeneID:1394"
                     /db_xref="HGNC:HGNC:2357"
                     /db_xref="MIM:122561"
ORIGIN      
        1 mgghpqlrlv kallllglnp vsaslqdqhc eslslasnis glqcnasvdl igtcwprspa
       61 gqlvvrpcpa ffygvryntt nngyreclan gswaarvnys ecqeilneek kskvhyhvav
      121 iinylghcis lvallvafvl flrlrsircl rniihwnlis afilrnatwf vvqltmspev
      181 hqsnvgwcrl vtaaynyfhv tnffwmfgeg cylhtaivlt ystdrlrkwm ficigwgvpf
      241 piivawaigk lyydnekcwf gkrpgvytdy iyqgpmilvl linfiflfni vrilmtklra
      301 sttsetiqyr kavkatlvll pllgitymlf fvnpgedevs rvvfiyfnsf lesfqvrsai
      361 rkrwhrwqdk hsirarvara msiptsptrv sfhsikqsta v
//
LOCUS       NP_982272               2099 aa            linear   PRI 26-MAR-2023
DEFINITION  dedicator of cytokinesis protein 8 isoform 1 [Homo sapiens].
ACCESSION   NP_982272 XP_036307 XP_372073
VERSION     NP_982272.2
DBSOURCE    REFSEQ: accession NM_203447.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2099)
  AUTHORS   Su HC.
  TITLE     Insights into the pathogenesis of allergic disease from dedicator
            of cytokinesis 8 deficiency
  JOURNAL   Curr Opin Immunol 80, 102277 (2023)
   PUBMED   36508760
  REMARK    GeneRIF: Insights into the pathogenesis of allergic disease from
            dedicator of cytokinesis 8 deficiency.
            Review article
REFERENCE   2  (residues 1 to 2099)
  AUTHORS   Kunimura K, Yamamura K, Nakahara T, Kido-Nakahara M, Uruno T and
            Fukui Y.
  TITLE     Identification of a functional DOCK8 gene polymorphism associated
            with atopic dermatitis
  JOURNAL   Allergy 77 (12), 3670-3672 (2022)
   PUBMED   35841182
  REMARK    GeneRIF: Identification of a functional DOCK8 gene polymorphism
            associated with atopic dermatitis.
REFERENCE   3  (residues 1 to 2099)
  AUTHORS   Liquidano-Perez E, Maza-Ramos G, Yamazaki-Nakashimada MA,
            Barragan-Arevalo T, Lugo-Reyes SO, Scheffler-Mendoza S,
            Espinosa-Padilla SE and Gonzalez-Serrano ME.
  TITLE     [Combined immunodeficiency due to DOCK8 deficiency. State of the
            art]
  JOURNAL   Rev Alerg Mex 69 (1), 31-47 (2022)
   PUBMED   36927749
  REMARK    GeneRIF: [Combined immunodeficiency due to DOCK8 deficiency. State
            of the art].
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 2099)
  AUTHORS   Saghafi S, Zandieh F, Fazlollahi MR, Glocker C, Frede N, Buchta M,
            Yang L, Mahmoudi AH, Houshmand M, Pourpak Z, Grimbacher B and Moin
            M.
  TITLE     Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with
            an Ocular Problem: Detection of Two New DOCK8 Mutations
  JOURNAL   Iran J Allergy Asthma Immunol 21 (3), 355-363 (2022)
   PUBMED   35822685
  REMARK    GeneRIF: Confirmation of Hyperimmunoglobulin E Syndrome in Two
            Patients with an Ocular Problem: Detection of Two New DOCK8
            Mutations.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 2099)
  AUTHORS   Patrizi O, Baronio M, Gazzurelli L, Rossi S, Rezzola S, Marcenaro
            E, Plebani A, Badolato R, Parolini S, Lougaris V and Tabellini G.
  TITLE     Lack of DOCK8 impairs the primary biologic functions of human NK
            cells and abrogates CCR7 surface expression in a WASP-independent
            manner
  JOURNAL   Clin Immunol 237, 108974 (2022)
   PUBMED   35278713
  REMARK    GeneRIF: Lack of DOCK8 impairs the primary biologic functions of
            human NK cells and abrogates CCR7 surface expression in a
            WASP-independent manner.
REFERENCE   6  (residues 1 to 2099)
  AUTHORS   Saelee P, Wongkham S, Puapairoj A, Khuntikeo N, Petmitr S,
            Chariyalertsak S, Sumethchotimaytha W and Karalak A.
  TITLE     Novel PNLIPRP3 and DOCK8 gene expression and prognostic
            implications of DNA loss on chromosome 10q25.3 in hepatocellular
            carcinoma
  JOURNAL   Asian Pac J Cancer Prev 10 (3), 501-506 (2009)
   PUBMED   19640199
  REMARK    GeneRIF: Under-expression of DOCK8 is associated with
            hepatocellular carcinoma.
REFERENCE   7  (residues 1 to 2099)
  AUTHORS   Griggs BL, Ladd S, Saul RA, DuPont BR and Srivastava AK.
  TITLE     Dedicator of cytokinesis 8 is disrupted in two patients with mental
            retardation and developmental disabilities
  JOURNAL   Genomics 91 (2), 195-202 (2008)
   PUBMED   18060736
  REMARK    GeneRIF: rare mutations in the DOCK8 gene may contribute to some
            cases of autosomal dominant mental retardation
REFERENCE   8  (residues 1 to 2099)
  AUTHORS   Takahashi K, Kohno T, Ajima R, Sasaki H, Minna JD, Fujiwara T,
            Tanaka N and Yokota J.
  TITLE     Homozygous deletion and reduced expression of the DOCK8 gene in
            human lung cancer
  JOURNAL   Int J Oncol 28 (2), 321-328 (2006)
   PUBMED   16391785
REFERENCE   9  (residues 1 to 2099)
  AUTHORS   Ruusala A and Aspenstrom P.
  TITLE     Isolation and characterisation of DOCK8, a member of the
            DOCK180-related regulators of cell morphology
  JOURNAL   FEBS Lett 572 (1-3), 159-166 (2004)
   PUBMED   15304341
  REMARK    GeneRIF: involvement of DOCK8 in processes that affect the
            organisation of filamentous actin.
REFERENCE   10 (residues 1 to 2099)
  AUTHORS   Cote JF and Vuori K.
  TITLE     Identification of an evolutionarily conserved superfamily of
            DOCK180-related proteins with guanine nucleotide exchange activity
  JOURNAL   J Cell Sci 115 (Pt 24), 4901-4913 (2002)
   PUBMED   12432077
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB191037.1, DR004867.1,
            AK090429.1 and AL161725.13.
            On May 27, 2009 this sequence version replaced NP_982272.1.
            
            Summary: This gene encodes a member of the DOCK180 family of
            guanine nucleotide exchange factors. Guanine nucleotide exchange
            factors interact with Rho GTPases and are components of
            intracellular signaling networks. Mutations in this gene result in
            the autosomal recessive form of the hyper-IgE syndrome.
            Alternatively spliced transcript variants encoding different
            isoforms have been described.[provided by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB191037.1, SRR14038194.4025885.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000432829.7/ ENSP00000394888.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2099
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.3"
     Protein         1..2099
                     /product="dedicator of cytokinesis protein 8 isoform 1"
                     /note="1200017A24Rik; dedicator of cytokinesis protein 8;
                     epididymis luminal protein 205"
                     /calculated_mol_wt=238399
     Site            20
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NF50.3)"
     Region          56..166
                     /region_name="DUF3398"
                     /note="Domain of unknown function (DUF3398); pfam11878"
                     /db_xref="CDD:432155"
     Site            139
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NF50.3)"
     Site            451
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8NF50.3)"
     Region          559..739
                     /region_name="C2_Dock-C"
                     /note="C2 domains found in Dedicator Of CytoKinesis (Dock)
                     class C proteins; cd08696"
                     /db_xref="CDD:176078"
     Site            904
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8C147; propagated from
                     UniProtKB/Swiss-Prot (Q8NF50.3)"
     Site            936
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NF50.3)"
     Site            1145
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NF50.3)"
     Site            1243
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8C147; propagated from
                     UniProtKB/Swiss-Prot (Q8NF50.3)"
     Region          1636..2057
                     /region_name="DHR2_DOCK8"
                     /note="Dock Homology Region 2, a GEF domain, of Class C
                     Dedicator of Cytokinesis 8; cd11701"
                     /db_xref="CDD:212574"
     Site            order(1753,1763,1765..1766,1768..1769,1772..1773,
                     1775..1776,1779..1780)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:212574"
     Site            order(1793,1795,1818,1821..1824,1826..1827,1846..1848,
                     1865..1867,1895..1898,1908..1909,1912,1914,1951..1952,
                     1955,1971..1972,1974..1975,1978..1980,1983..1985,
                     1988..1989,1992,2020,2042,2045)
                     /site_type="other"
                     /note="Rac/Cdc42 binding site [polypeptide binding]"
                     /db_xref="CDD:212574"
     Site            1983..1988
                     /site_type="other"
                     /note="nucleotide sensor"
                     /db_xref="CDD:212574"
     Site            2087
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NF50.3)"
     CDS             1..2099
                     /gene="DOCK8"
                     /gene_synonym="HEL-205; MRD2; ZIR8"
                     /coded_by="NM_203447.4:113..6412"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS6440.2"
                     /db_xref="GeneID:81704"
                     /db_xref="HGNC:HGNC:19191"
                     /db_xref="MIM:611432"
ORIGIN      
        1 matlpsaerr afalkinrys saeirkqftl ppnlgqyhrq sistsgfpsl qlpqfydpve
       61 pvdfegllmt hlnsldvqla qelgdftddd ldvvftpkec rtlqpslpee gveldphvrd
      121 cvqtyirewl ivnrknqgsp eicgfkktgs rkdfhktlpk qtfesetlec sepaaqagpr
      181 hlnvlcdvsg kgpvtacdfd lrslqpdkrl enllqqvsae dfekqneear rtnrqaelfa
      241 lypsvdeeda veirpvpecp kehlgnrilv klltlkfeie ieplfasial ydvkerkkis
      301 enfhcdlnsd qfkgflraht psvaassqar savfsvtyps sdiylvvkie kvlqqgeigd
      361 caepytvike sdggkskeki eklklqaesf cqrlgkyrmp fawapislss ffnvstlere
      421 vtdvdsvvgr ssvgerrtla qsrrlseral sleengvgsn fktstlsvss ffkqegdrls
      481 dedlfkflad ykrssslqrr vksipgllrl eistapeiin ccltpemlpv kpfpenrtrp
      541 hkeilefptr evyvphtvyr nllyvypqrl nfvnklasar nitikiqfmc gedasnampv
      601 ifgkssgpef lqevytavty hnkspdfyee vkiklpaklt vnhhllftfy hiscqqkqga
      661 svetllgysw lpillnerlq tgsyclpval eklppnysmh saekvplqnp pikwaeghkg
      721 vfnievqavs svhtqdnhle kfftlchsle sqvtfpirvl dqkisemale helklsiicl
      781 nssrleplvl flhlvldklf qlsvqpmvia gqtanfsqfa fesvvaians lhnskdlskd
      841 qhgrncllas yvhyvfrlpe vqrdvpksga ptalldprsy htygrtsaaa vsskllqarv
      901 msssnpdlag thsaadeevk nimsskiadr ncsrmsyycs gssdapsspa aprpaskkhf
      961 heelalqmvv stgmvretvf kyawfffell vksmaqhvhn mdkrdsfrrt rfsdrfmddi
     1021 ttivnvvtse iaallvkpqk eneqaekmni slafflydll slmdrgfvfn lirhycsqls
     1081 aklsnlptli smrleflril cshehylnln lffmnadtap tspcpsissq nssscssfqd
     1141 qkiasmfdlt seyrqqhflt gllftelaaa ldaegegisk vqrkavsaih sllsshdldp
     1201 rcvkpevkvk iaalylplvg iildalpqlc dftvadtrry rtsgsdeeqe gagainqnva
     1261 laiagnnfnl ktsgivlssl pykqynmlna dttrnlmicf lwimknadqs lirkwiadlp
     1321 stqlnrildl lficvlcfey kgkqssdkvs tqvlqksrdv karleeallr gegargemmr
     1381 rrapgndrfp glnenlrwkk eqthwrqane kldktkaeld qealisgnla teahliildm
     1441 qeniiqassa ldckdsllgg vlrvlvnsln cdqsttylth cfatlralia kfgdllfeee
     1501 veqcfdlchq vlhhcsssmd vtrsqacatl yllmrfsfga tsnfarvkmq vtmslaslvg
     1561 rapdfneehl rrslrtilay seedtamqmt pfptqveell cnlnsilydt vkmrefqedp
     1621 emlmdlmyri aksyqaspdl rltwlqnmae khtkkkcyte aamclvhaaa lvaeylsmle
     1681 dhsylpvgsv sfqnissnvl eesvvsedtl spdedgvcag qyftesglvg lleqaaelfs
     1741 tgglyetvne vyklvipile ahrefrkltl thsklqrafd sivnkdhkrm fgtyfrvgff
     1801 gskfgdldeq efvykepait klpeishrle afygqcfgae fvevikdstp vdktkldpnk
     1861 ayiqitfvep yfdeyemkdr vtyfeknfnl rrfmyttpft legrprgelh eqyrrntvlt
     1921 tmhafpyikt risviqkeef vltpievaie dmkkktlqla vainqeppda kmlqmvlqgs
     1981 vgatvnqgpl evaqvflaei padpklyrhh nklrlcfkef imrcgeavek nkrlitadqr
     2041 eyqqelkkny nklkenlrpm ierkipelyk pifrvesqkr dsfhrssfrk cetqlsqgs
//
LOCUS       NP_001365690            2469 aa            linear   PRI 17-APR-2022
DEFINITION  TBCEL-TECTA protein [Homo sapiens].
ACCESSION   NP_001365690
VERSION     NP_001365690.1
DBSOURCE    REFSEQ: accession NM_001378761.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001929.5, AP000646.4 and AP000826.5.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            readthrough transcript    :: includes exons from GeneID 7007,
                                         219899
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2469
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     Protein         1..2469
                     /product="TBCEL-TECTA protein"
                     /calculated_mol_wt=274868
     Region          52..75
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          53..298
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          78..101
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          102..130
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          153..175
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          176..201
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <191..304
                     /region_name="LRR_9"
                     /note="Leucine-rich repeat; pfam14580"
                     /db_xref="CDD:405295"
     Region          202..228
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          229..256
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          417..573
                     /region_name="NIDO"
                     /note="Extracellular domain of unknown function in nidogen
                     (entactin) and hypothetical proteins; smart00539"
                     /db_xref="CDD:214712"
     Region          641..797
                     /region_name="VWD"
                     /note="von Willebrand factor type D domain; pfam00094"
                     /db_xref="CDD:425462"
     Region          836..910
                     /region_name="C8"
                     /note="This domain contains 8 conserved cysteine residues;
                     smart00832"
                     /db_xref="CDD:214843"
     Region          916..969
                     /region_name="TIL"
                     /note="trypsin inhibitor-like cysteine rich domain;
                     cd19941"
                     /db_xref="CDD:410995"
     Site            order(925,929,942,946)
                     /site_type="other"
                     /note="reactive site [polypeptide binding]"
                     /db_xref="CDD:410995"
     Region          971..1025
                     /region_name="VWC"
                     /note="von Willebrand factor type C domain; cl17735"
                     /db_xref="CDD:450195"
     Region          1032..1185
                     /region_name="VWD"
                     /note="von Willebrand factor type D domain; pfam00094"
                     /db_xref="CDD:425462"
     Region          1224..1300
                     /region_name="C8"
                     /note="This domain contains 8 conserved cysteine residues;
                     smart00832"
                     /db_xref="CDD:214843"
     Region          1303..1355
                     /region_name="TIL"
                     /note="trypsin inhibitor-like cysteine rich domain;
                     cd19941"
                     /db_xref="CDD:410995"
     Site            order(1312,1316,1328,1332)
                     /site_type="other"
                     /note="reactive site [polypeptide binding]"
                     /db_xref="CDD:410995"
     Region          1419..1577
                     /region_name="VWD"
                     /note="von Willebrand factor type D domain; pfam00094"
                     /db_xref="CDD:425462"
     Region          1617..1687
                     /region_name="C8"
                     /note="This domain contains 8 conserved cysteine residues;
                     smart00832"
                     /db_xref="CDD:214843"
     Region          1691..1744
                     /region_name="TIL"
                     /note="trypsin inhibitor-like cysteine rich domain;
                     cd19941"
                     /db_xref="CDD:410995"
     Site            order(1700,1704,1717,1721)
                     /site_type="other"
                     /note="reactive site [polypeptide binding]"
                     /db_xref="CDD:410995"
     Region          1806..1958
                     /region_name="VWD"
                     /note="von Willebrand factor type D domain; pfam00094"
                     /db_xref="CDD:425462"
     Region          1998..2071
                     /region_name="C8"
                     /note="This domain contains 8 conserved cysteine residues;
                     smart00832"
                     /db_xref="CDD:214843"
     Region          2119..2371
                     /region_name="ZP"
                     /note="Zona pellucida (ZP) domain; smart00241"
                     /db_xref="CDD:214579"
     Region          2403..2435
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     CDS             1..2469
                     /gene="TBCEL-TECTA"
                     /coded_by="NM_001378761.1:208..7617"
                     /db_xref="GeneID:116804918"
                     /db_xref="HGNC:HGNC:54857"
ORIGIN      
        1 mdqpsgrsfm qvlcekyspe nfpyrrgpgm gvhvpatpqg spmkdrlnlp svlvlnscgi
       61 tcagdekeia afcahvseld lsdnkledwh evskivsnvp qleflnlssn plnlsvlert
      121 cagsfsgvrk lvlnnskasw etvhmilqel pdleelflcl ndyetvscps icchslkllh
      181 itdnnlqdwt eirklgvmfp sldtlvlann hlnaieepdd slarlfpnlr sislhksglq
      241 swedidklns fpkleevrll gipllqpytt eerrklviar lpsvsklngs vvtdgereds
      301 erffiryyvd vpqeevpfrm nyssflriwv sfifalvqhq aqprelmypf wqndtktpkv
      361 ddgssseikl aipvfffgvp yrtvyvnnng vvsfnvlvsq ftpesfpltd grafvapfwa
      421 dvhngirgei yyretmepai lkratkdirk yfkdmatfsa twvfivtwee vtfyggsstt
      481 pvntfqavlv sdgsytftlf nyyeinwttg tasggdpltg lggvmaqagf nggnltnffs
      541 lpgsrtpeiv niqettnvnv pgrwafkvdg keidpangct srgqflrrge vfwddlnctv
      601 kcrcldfnne iycqeascsp yevcepkgkf fycsavetst cvvfgephyh tfdgflfhfq
      661 gscayllarq clqtsslpff sveaknehrr gsavswvkel svevngykil ipkgsygrvk
      721 vndlvtslpv tldlgtvkiy qsgistavet dfgllvtfdg qhyasisvpg syinstcglc
      781 gnynknpldd flrpdgrpam svldlgeswr vyhadwkcds gcvdnctqcd aatealyfgs
      841 dycgflnktd gplwecgtvv dptafvhscv ydlcsvrdng tllcqaiqay alvcqalgip
      901 igdwrtqtgc vstvqcpsfs hysvctsscp dtcsdltasr ncatpctegc ecnqgfvlst
      961 sqcvplhkcg cdfdghyytm geffwatanc tvqclceegg dvycfnktcg sgevcavedg
     1021 yqgcfpkret vcllsqnqvl htfdgasyaf psefsytllk tcperpeyle idinkkkpda
     1081 gpawlrglri lvadqevkig gigasevkln gqevelpffh psgkleiyrn knsttveskg
     1141 vvtvqysdig llyirlstty fnctgglcgf ynanasdefc lpngkctdnl avfleswttf
     1201 eeicngecgd llkacnndse llkfyrsrsr cgiindpsns sflechgvvn vtayyrtclf
     1261 rlcqsggnes elcdsvarya sacknadvev gpwrtydfcp lecpenshfe ecitctetce
     1321 tltlgpicvd scsegcqcde gyallgsqcv trsecgcnfe ghqlatnetf wvdldcqifc
     1381 ycsgtdnrvh cetipckdde ycmeegglyy cqartdasci vsgyghyltf dgfpfdfqts
     1441 cplilcttgs rpssdsfpkf vvtaknedrd pslalwvkqv dvtvfgysiv ihraykhtvl
     1501 vnserlylpl klgqgkinif sfgfhvvvet dfglkvvydw ktflsitvpr smqnstyglc
     1561 gryngnpddd lempmgllas svnefgqswv krdtfcqvgc gdrcpscakv egfskvqqlc
     1621 slipnqnaaf skchskvnpt ffyknclfds cidggavqta cswlqnyast cqtqgitvtg
     1681 wrnytsctvt cppnshyesc vsvcqprcaa irlksdcshy cvegchcdag yvlngkscil
     1741 phscgcysdg kyyepkqlfw nsdctrrcrc frrnviqcdp rqcksdeeca lrngvrgcfs
     1801 tktsyclaag ggvfrtfdga flrfpancaf vlsticqklp disfqliinf dkwsapnlti
     1861 ispvyfyine eqilindrnt vkvngtqvnv pfitglatki yssegflvid tspdiqiyyn
     1921 gfnvikisis erlqnkvcgl cgnfngdltd dyvtlrgkpv vssvvlaqsw ktngmqkscn
     1981 elqfsqyaam cdnvhiqkmq gdgyclkltd mkgffqpcyg lldplpfyes cyldgcyshk
     2041 kfqlcgslaa ygeacrsfgi lstewieken csgvvedpcv gadcpnrtce lgngrelcgc
     2101 iepppygnns hdiidaevtc kaaqmevsis kcklfqlgfe regvrindrq ctgiegedfi
     2161 sfqinntkgn cgnivqsngt himykntlwi esanntgnii trdrtinvef scayeldiki
     2221 sldsvvkpml svinltvptq egsfitkmal yknasykhpy rqgevvlttr dvlyvgvfvv
     2281 gadathlilt lnkcyatptr dsndklryfi ieggcqnlkd ntigieenav sltcrfhvtv
     2341 fkfigdydev hlhcavslcd sekysckitc phnsriatdy tkepkeqiis vgpirrkrld
     2401 wcednggceq ictsrvdgpl cscvtgtlqe dgkscrasns smelqvwtll limiqislwh
     2461 fvyksgtts
//
LOCUS       NP_001337550             341 aa            linear   PRI 14-DEC-2022
DEFINITION  CMP-N-acetylneuraminate-beta-1,4-galactoside
            alpha-2,3-sialyltransferase isoform u [Homo sapiens].
ACCESSION   NP_001337550 XP_006710891
VERSION     NP_001337550.1
DBSOURCE    REFSEQ: accession NM_001350621.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 341)
  AUTHORS   Xu L, Niu X, Liu Y and Liu L.
  TITLE     ST3GAL3 Promotes the Inflammatory Response of Fibroblast-Like
            Synoviocytes in Rheumatoid Arthritis by Activating the TLR9/MyD88
            Pathway
  JOURNAL   Mediators Inflamm 2022, 4258742 (2022)
   PUBMED   36405992
  REMARK    GeneRIF: ST3GAL3 Promotes the Inflammatory Response of
            Fibroblast-Like Synoviocytes in Rheumatoid Arthritis by Activating
            the TLR9/MyD88 Pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 341)
  AUTHORS   Farajollahi Z, Razmara E, Heidari E, Jafarinia E and Garshasbi M.
  TITLE     A novel variant of ST3GAL3 causes non-syndromic autosomal recessive
            intellectual disability in Iranian patients
  JOURNAL   J Gene Med 22 (11), e3253 (2020)
   PUBMED   32666583
  REMARK    GeneRIF: A novel variant of ST3GAL3 causes non-syndromic autosomal
            recessive intellectual disability in Iranian patients.
REFERENCE   3  (residues 1 to 341)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 341)
  AUTHORS   Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K,
            Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Muhlenhoff M,
            Gerardy-Schahn R, Najmabadi H, Ropers HH and Kuss AW.
  TITLE     ST3GAL3 mutations impair the development of higher cognitive
            functions
  JOURNAL   Am J Hum Genet 89 (3), 407-414 (2011)
   PUBMED   21907012
  REMARK    GeneRIF: ST3GAL3 mutations impair the development of higher
            cognitive functions.
REFERENCE   5  (residues 1 to 341)
  AUTHORS   Tu L and Banfield DK.
  TITLE     Localization of Golgi-resident glycosyltransferases
  JOURNAL   Cell Mol Life Sci 67 (1), 29-41 (2010)
   PUBMED   19727557
  REMARK    Review article
REFERENCE   6  (residues 1 to 341)
  AUTHORS   Grahn A, Barkhordar GS and Larson G.
  TITLE     Identification of seven new alpha2,3-sialyltransferase III, ST3Gal
            III, transcripts from human foetal brain
  JOURNAL   Glycoconj J 20 (7-8), 493-500 (2004)
   PUBMED   15316282
  REMARK    GeneRIF: Identification of a new ST3Gal3 transcript from fetal
            brain.
REFERENCE   7  (residues 1 to 341)
  AUTHORS   Taniguchi A, Saito K, Kubota T and Matsumoto K.
  TITLE     Characterization of the promoter region of the human
            Galbeta1,3(4)GlcNAc alpha2,3-sialyltransferase III (hST3Gal III)
            gene
  JOURNAL   Biochim Biophys Acta 1626 (1-3), 92-96 (2003)
   PUBMED   12697334
  REMARK    GeneRIF: Characterization of the promoter region of the ST3Gal III
            gene.
REFERENCE   8  (residues 1 to 341)
  AUTHORS   Grahn A, Barkhordar GS and Larson G.
  TITLE     Cloning and sequencing of nineteen transcript isoforms of the human
            alpha2,3-sialyltransferase gene, ST3Gal III; its genomic
            organisation and expression in human tissues
  JOURNAL   Glycoconj J 19 (3), 197-210 (2002)
   PUBMED   12815231
  REMARK    GeneRIF: 19 different transcripts of ST3GalIII were isolated and
            cloned; tissue distribution analysis showed complex patterns in
            neural and muscular tissues
REFERENCE   9  (residues 1 to 341)
  AUTHORS   Kitagawa H and Paulson JC.
  TITLE     Differential expression of five sialyltransferase genes in human
            tissues
  JOURNAL   J Biol Chem 269 (27), 17872-17878 (1994)
   PUBMED   8027041
REFERENCE   10 (residues 1 to 341)
  AUTHORS   Kitagawa H and Paulson JC.
  TITLE     Cloning and expression of human Gal beta 1,3(4)GlcNAc alpha
            2,3-sialyltransferase
  JOURNAL   Biochem Biophys Res Commun 194 (1), 375-382 (1993)
   PUBMED   8333853
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY013772.1, DN999880.1,
            AL521256.3, BI832120.1, AF425855.1, AL357079.24, BC050380.1 and
            AA478788.1.
            On Apr 20, 2017 this sequence version replaced XP_006710891.1.
            
            Summary: The protein encoded by this gene is a type II membrane
            protein that catalyzes the transfer of sialic acid from CMP-sialic
            acid to galactose-containing substrates. The encoded protein is
            normally found in the Golgi apparatus but can be proteolytically
            processed to a soluble form. This protein is a member of
            glycosyltransferase family 29. Mutations in this gene have been
            associated with a form of autosomal recessive nonsymdromic
            cognitive disability as well as infantile epileptic encephalopathy.
            Multiple transcript variants encoding several different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.232532.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..341
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     Protein         1..341
                     /product="CMP-N-acetylneuraminate-beta-1,4-galactoside
                     alpha-2,3-sialyltransferase isoform u"
                     /EC_number="2.4.3.6"
                     /note="sialyltransferase 6 (N-acetyllacosaminide alpha
                     2,3-sialyltransferase); Gal beta-1,3(4)GlcNAc alpha-2,3
                     sialyltransferase;
                     CMP-N-acetylneuraminate-beta-1,4-galactoside
                     alpha-2,3-sialyltransferase; alpha-2,3-sialyltransferase
                     II; alpha 2,3-sialyltransferase III; alpha 2,3-ST 3;
                     sialyltransferase 6 (N-acetyllactosaminide alpha
                     2,3-sialyltransferase)"
                     /calculated_mol_wt=38405
     Region          23..257
                     /region_name="Glyco_transf_29"
                     /note="Glycosyltransferase family 29 (sialyltransferase);
                     pfam00777"
                     /db_xref="CDD:425864"
     CDS             1..341
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /coded_by="NM_001350621.2:642..1667"
                     /note="isoform u is encoded by transcript variant 28"
                     /db_xref="GeneID:6487"
                     /db_xref="HGNC:HGNC:10866"
                     /db_xref="MIM:606494"
ORIGIN      
        1 mpelcwerfs kpapmfldds frkwariref vppfgikgqd nlikailsvt keyrltpald
       61 slrcrrciiv gnggvlanks lgsriddydi vvrlnsapvk gfekdvgskt tlritypega
      121 mqrpeqyerd slfvlagfkw qdfkwlkyiv ykervsasdg fwksvatrvp keppeiriln
      181 pyfiqeaaft liglpfnngl mgrgniptlg svavtmalhg cdevavagfg ydmstpnapl
      241 hyyetvrmaa ikeprphven lnpselrlph fcfdhqpstd pslkpgnlgp vlqqllccyi
      301 wvmggcwrep picadscffl daqyparerv saeagessrh h
//
LOCUS       NP_001356701             527 aa            linear   PRI 25-DEC-2022
DEFINITION  zinc finger imprinted 2 isoform b [Homo sapiens].
ACCESSION   NP_001356701
VERSION     NP_001356701.1
DBSOURCE    REFSEQ: accession NM_001369772.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 527)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 527)
  AUTHORS   Kim J, Bergmann A, Lucas S, Stone R and Stubbs L.
  TITLE     Lineage-specific imprinting and evolution of the zinc-finger gene
            ZIM2
  JOURNAL   Genomics 84 (1), 47-58 (2004)
   PUBMED   15203203
  REMARK    GeneRIF: ZIM2 gene, like the co-transcribed PEG3 gene, is imprinted
            in human, with preferential expression from the paternal allele.
            The imprinting status of ZIM2 is not conserved among mammals.
REFERENCE   3  (residues 1 to 527)
  AUTHORS   Kim J, Bergmann A and Stubbs L.
  TITLE     Exon sharing of a novel human zinc-finger gene, ZIM2, and
            paternally expressed gene 3 (PEG3)
  JOURNAL   Genomics 64 (1), 114-118 (2000)
   PUBMED   10708526
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006115.1.
            
            Summary: In human, ZIM2 and PEG3 (GeneID:5178) are two distinct
            genes that share a set of 5' exons and have a common promoter, and
            both genes are paternally expressed. Alternative splicing events
            connect the shared exons either with the remaining 4 exons unique
            to ZIM2, or with the remaining 2 exons unique to PEG3. This is in
            contrast to mouse and cow, where ZIM2 and PEG3 genes do not share
            exons in common, and the imprinting status of ZIM2 is also not
            conserved amongst mammals. Additional 5' alternatively spliced
            transcripts encoding the same protein have been found for the human
            ZIM2 gene. [provided by RefSeq, Oct 2010].
            
            Transcript Variant: This variant (6), as well as variants 1-5, 14,
            and 15, encodes isoform b.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.835467.1,
                                           SRR1803614.55905.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene :: PMID: 15203203
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..527
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     Protein         1..527
                     /product="zinc finger imprinted 2 isoform b"
                     /note="zinc finger protein 656"
                     /calculated_mol_wt=61033
     Region          1..104
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NZV7.1)"
     Region          176..232
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          247..322
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NZV7.1)"
     Region          330..350
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          342..365
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          358..378
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          414..434
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(419,421,423,425..426,429..430,433,473,475,479..480,
                     483..484,487,501,503,505,507..508,511..512,515)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          466..488
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          468..488
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          480..505
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          496..516
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..527
                     /gene="ZIM2"
                     /gene_synonym="ZNF656"
                     /coded_by="NM_001369772.1:383..1966"
                     /note="isoform b is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS33123.1"
                     /db_xref="GeneID:23619"
                     /db_xref="HGNC:HGNC:12875"
ORIGIN      
        1 myqpeddnns dvtsdddmtr nrresspphs vhsfsgdrdw drrgrsrdme prdrwshtrn
       61 prsrmpprdl slpvvaktsf emdreddrds rayesrsqda esyqnvvdla edrkphntiq
      121 dnmenyrkll slgflaqdsv paekrnteml dnlpsagsqf pdfkhlgtfl vfeelvtfed
      181 vlvdfspeel sslsaaqrnl yrevmlenyr nlvslghqfs kpdiisrlee eesyametds
      241 rhtvicqges hddplephqg nqeklltpit mndpktltpe rsygsdefer ssnlskqskd
      301 plgkdpqegt apgictspqs asqenkhnrc efckrtfstq valrrherih tgkkpyeckq
      361 caeafylmph lnrhqkthsg rktsgcnegr kpsvqcanlc ervrihsqed yfecfqcgka
      421 flqnvhllqh lkaheaarvl ppglshskty liryqrkhdy vgeracqccd cgrvfsrnsy
      481 liqhyrthtq erpyqcqlcg kcfgrpsylt qhyqlhsqek tvecdhc
//
LOCUS       NP_004279                359 aa            linear   PRI 25-DEC-2022
DEFINITION  cytohesin-interacting protein [Homo sapiens].
ACCESSION   NP_004279
VERSION     NP_004279.3
DBSOURCE    REFSEQ: accession NM_004288.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 359)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 359)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 359)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (residues 1 to 359)
  AUTHORS   Tompkins N, MacKenzie B, Ward C, Salgado D, Leidal A, McCormick C
            and Pohajdak B.
  TITLE     Cytohesin-associated scaffolding protein (CASP) is involved in
            migration and IFN-gamma secretion in natural killer cells
  JOURNAL   Biochem Biophys Res Commun 451 (2), 165-170 (2014)
   PUBMED   25058460
  REMARK    GeneRIF: CASP has a direct role in the secretion of IFN-gamma, and
            NK cell motility and ability to kill tumor cells. CASP polarizes to
            the leading edge of migrating NK cells, and to the immunological
            synapse when engaged with tumor cells.
REFERENCE   5  (residues 1 to 359)
  AUTHORS   Grabher D, Hofer S, Ortner D and Heufler C.
  TITLE     In human monocyte derived dendritic cells SOCS1 interacting with
            CYTIP induces the degradation of CYTIP by the proteasome
  JOURNAL   PLoS One 8 (2), e57538 (2013)
   PUBMED   23469018
  REMARK    GeneRIF: a newly identified binding partner of CYTIP, SOCS-1, and
            confirm its function in regulating the degradation of CYTIP by the
            proteasome
REFERENCE   6  (residues 1 to 359)
  AUTHORS   Boehm T, Hofer S, Winklehner P, Kellersch B, Geiger C,
            Trockenbacher A, Neyer S, Fiegl H, Ebner S, Ivarsson L, Schneider
            R, Kremmer E, Heufler C and Kolanus W.
  TITLE     Attenuation of cell adhesion in lymphocytes is regulated by CYTIP,
            a protein which mediates signal complex sequestration
  JOURNAL   EMBO J 22 (5), 1014-1024 (2003)
   PUBMED   12606567
REFERENCE   7  (residues 1 to 359)
  AUTHORS   Mansour M, Lee SY and Pohajdak B.
  TITLE     The N-terminal coiled coil domain of the cytohesin/ARNO family of
            guanine nucleotide exchange factors interacts with the scaffolding
            protein CASP
  JOURNAL   J Biol Chem 277 (35), 32302-32309 (2002)
   PUBMED   12052827
  REMARK    GeneRIF: observations suggest that CASP is a scaffolding protein
            that facilitates the function of at least one member of the
            cytohesin/ARNO family in response to specific cellular stimuli
REFERENCE   8  (residues 1 to 359)
  AUTHORS   Tang P, Cheng TP, Agnello D, Wu CY, Hissong BD, Watford WT, Ahn HJ,
            Galon J, Moss J, Vaughan M, O'Shea JJ and Gadina M.
  TITLE     Cybr, a cytokine-inducible protein that binds cytohesin-1 and
            regulates its activity
  JOURNAL   Proc Natl Acad Sci U S A 99 (5), 2625-2629 (2002)
   PUBMED   11867758
REFERENCE   9  (residues 1 to 359)
  AUTHORS   Kim HS.
  TITLE     Assignment of the human B3-1 gene (PSCDBP) to chromosome 2 band
            q11.2 by radiation hybrid mapping
  JOURNAL   Cytogenet Cell Genet 84 (1-2), 95 (1999)
   PUBMED   10343115
REFERENCE   10 (residues 1 to 359)
  AUTHORS   Dixon B, Sahely B, Liu L and Pohajdak B.
  TITLE     Cloning a cDNA from human NK/T cells which codes for an unusual
            leucine zipper containing protein
  JOURNAL   Biochim Biophys Acta 1216 (2), 321-324 (1993)
   PUBMED   8241278
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB219691.1, BC036449.2 and
            AC019201.6.
            On Jun 2, 2004 this sequence version replaced NP_004279.2.
            
            Summary: The protein encoded by this gene contains 2 leucine zipper
            domains and a putative C-terminal nuclear targeting signal, but
            does not have any hydrophobic regions. This protein is expressed
            weakly in resting NK and T cells. The encoded protein modulates the
            activation of ARF genes by CYTH1. This protein interacts with CYTH1
            and SNX27 proteins and may act to sequester CYTH1 protein in the
            cytoplasm.[provided by RefSeq, Aug 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC036449.2, SRR1803613.251262.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264192.8/ ENSP00000264192.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..359
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.1"
     Protein         1..359
                     /product="cytohesin-interacting protein"
                     /note="cytohesin binding protein HE; cytohesin binder and
                     regulator; cbp HE; cytohesin-associated scaffolding
                     protein; pleckstrin homology Sec7 and coiled-coil
                     domains-binding protein"
                     /calculated_mol_wt=39879
     Region          76..161
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(87..90,92,147..148,151..152)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          166..188
                     /region_name="Interaction with CYTH1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60759.2)"
     CDS             1..359
                     /gene="CYTIP"
                     /gene_synonym="B3-1; CASP; CYBR; CYTHIP; HE; PSCDBP"
                     /coded_by="NM_004288.5:70..1149"
                     /db_xref="CCDS:CCDS2204.1"
                     /db_xref="GeneID:9595"
                     /db_xref="HGNC:HGNC:9506"
                     /db_xref="MIM:604448"
ORIGIN      
        1 mslqrllqhs sngnladfca gpayssystl tgsltmddnr riqmladtva tlprgrkqla
       61 ltrssslsdf swsqrklvtv ekqdnetfgf eiqsyrpqnq nacssemftl ickiqedspa
      121 hcaglqagdv laningvste gftykqvvdl irssgnllti etlngtmilk rteleaklqv
      181 lkqtlkqkwv eyrslqlqeh rllhgdaanc pslenmdlde lslfgplpgp gpalvdrnrl
      241 ssessckswl ssmtmdsedg yqtcvsedss rgafsrqtst ddecfipkeg ddflrrsssr
      301 rnrsisntss gsmsplwegn lssmfgtlpr ksrkgsvrkq llkfipglhr aveeeesrf
//
LOCUS       NP_001138349             606 aa            linear   PRI 27-DEC-2022
DEFINITION  protein SCAI isoform 2 [Homo sapiens].
ACCESSION   NP_001138349
VERSION     NP_001138349.1
DBSOURCE    REFSEQ: accession NM_001144877.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 606)
  AUTHORS   Adeyemi RO, Willis NA, Elia AEH, Clairmont C, Li S, Wu X, D'Andrea
            AD, Scully R and Elledge SJ.
  TITLE     The Protexin complex counters resection on stalled forks to promote
            homologous recombination and crosslink repair
  JOURNAL   Mol Cell 81 (21), 4440-4456 (2021)
   PUBMED   34597596
  REMARK    GeneRIF: The Protexin complex counters resection on stalled forks
            to promote homologous recombination and crosslink repair.
REFERENCE   2  (residues 1 to 606)
  AUTHORS   Wei Z, Lyu B, Hou D and Liu X.
  TITLE     Mir-5100 Mediates Proliferation, Migration and Invasion of Oral
            Squamous Cell Carcinoma Cells Via Targeting SCAI
  JOURNAL   J Invest Surg 34 (8), 834-841 (2021)
   PUBMED   31851859
  REMARK    GeneRIF: Mir-5100 Mediates Proliferation, Migration and Invasion of
            Oral Squamous Cell Carcinoma Cells Via Targeting SCAI.
REFERENCE   3  (residues 1 to 606)
  AUTHORS   Luo X, Zhang X, Peng J, Chen Y, Zhao W, Jiang X, Su L, Xie M and
            Lin B.
  TITLE     miR-371b-5p promotes cell proliferation, migration and invasion in
            non-small cell lung cancer via SCAI
  JOURNAL   Biosci Rep 40 (11) (2020)
   PUBMED   33103723
  REMARK    GeneRIF: miR-371b-5p promotes cell proliferation, migration and
            invasion in non-small cell lung cancer via SCAI.
REFERENCE   4  (residues 1 to 606)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 606)
  AUTHORS   Cai Y, Zhang K, Cao L, Sun H and Wang H.
  TITLE     Inhibition of Microrna-766-5p Attenuates the Development of
            Cervical Cancer Through Regulating SCAI
  JOURNAL   Technol Cancer Res Treat 19, 1533033820980081 (2020)
   PUBMED   33327889
  REMARK    GeneRIF: Inhibition of Microrna-766-5p Attenuates the Development
            of Cervical Cancer Through Regulating SCAI.
REFERENCE   6  (residues 1 to 606)
  AUTHORS   Lin L, Liu D, Liang H, Xue L, Su C and Liu M.
  TITLE     MiR-1228 promotes breast cancer cell growth and metastasis through
            targeting SCAI protein
  JOURNAL   Int J Clin Exp Pathol 8 (6), 6646-6655 (2015)
   PUBMED   26261546
  REMARK    GeneRIF: miR-1228 promoted breast cancer proliferation, invasion
            and migration was mediated by MOAP1 and SCAI.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 606)
  AUTHORS   Chen X, Hu W, Xie B, Gao H, Xu C and Chen J.
  TITLE     Downregulation of SCAI enhances glioma cell invasion and stem cell
            like phenotype by activating Wnt/beta-catenin signaling
  JOURNAL   Biochem Biophys Res Commun 448 (2), 206-211 (2014)
   PUBMED   24785374
  REMARK    GeneRIF: Downregulation of SCAI enhances glioma cell invasion and
            cancer stem cell like phenotype.Downregulation of SCAI activates
            the Wnt/beta-catenin signaling.
REFERENCE   8  (residues 1 to 606)
  AUTHORS   Brauchle M, Yao Z, Arora R, Thigale S, Clay I, Inverardi B,
            Fletcher J, Taslimi P, Acker MG, Gerrits B, Voshol J, Bauer A,
            Schubeler D, Bouwmeester T and Ruffner H.
  TITLE     Protein complex interactor analysis and differential activity of
            KDM3 subfamily members towards H3K9 methylation
  JOURNAL   PLoS One 8 (4), e60549 (2013)
   PUBMED   23593242
  REMARK    GeneRIF: SCAI is a specific interaction partner for KMD3B.
            Publication Status: Online-Only
REFERENCE   9  (residues 1 to 606)
  AUTHORS   Fintha A, Gasparics A, Fang L, Erdei Z, Hamar P, Mozes MM, Kokeny
            G, Rosivall L and Sebe A.
  TITLE     Characterization and role of SCAI during renal fibrosis and
            epithelial-to-mesenchymal transition
  JOURNAL   Am J Pathol 182 (2), 388-400 (2013)
   PUBMED   23178076
  REMARK    GeneRIF: SCAI is a novel transcriptional cofactor that regulates
            epithelial-to-mesenchymal transition and renal fibrosis.
REFERENCE   10 (residues 1 to 606)
  AUTHORS   Brandt DT, Baarlink C, Kitzing TM, Kremmer E, Ivaska J, Nollau P
            and Grosse R.
  TITLE     SCAI acts as a suppressor of cancer cell invasion through the
            transcriptional control of beta1-integrin
  JOURNAL   Nat Cell Biol 11 (5), 557-568 (2009)
   PUBMED   19350017
  REMARK    GeneRIF: Genome-wide expression analysis surprisingly reveals that
            one of the strongest upregulated genes after suppression of SCAI is
            beta1-integrin
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB048788.1, BC104031.1,
            AL451125.7 and BM873972.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a regulator of cell migration. The
            encoded protein appears to function in the RhoA (ras homolog gene
            family, member A)-Dia1 (diaphanous homolog 1) signal transduction
            pathway. Alternatively spliced transcript variants have been
            described. [provided by RefSeq, Feb 2010].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (2) has the same
            N- and C-termini but is shorter compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1208117.1,
                                           SRR11853567.30856.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000336505.11/ ENSP00000336756.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..606
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3"
     Protein         1..606
                     /product="protein SCAI isoform 2"
                     /note="protein SCAI; suppressor of cancer cell invasion
                     protein"
                     /calculated_mol_wt=70269
     Region          1..212
                     /region_name="Necessary to inhibit MRTFA-induced SRF
                     transcriptional activity. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9R8.2)"
     Region          1..35
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9R8.2)"
     Region          64..557
                     /region_name="SCAI"
                     /note="Protein SCAI; pfam12070"
                     /db_xref="CDD:432307"
     Site            64
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q8C8N2; propagated from
                     UniProtKB/Swiss-Prot (Q8N9R8.2)"
     Region          71..173
                     /region_name="Required for interaction with MRTFA.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9R8.2)"
     Site            472..492
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9R8.2)"
     CDS             1..606
                     /gene="SCAI"
                     /gene_synonym="C9orf126; NET40"
                     /coded_by="NM_001144877.3:92..1912"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS48017.1"
                     /db_xref="GeneID:286205"
                     /db_xref="HGNC:HGNC:26709"
                     /db_xref="MIM:619222"
ORIGIN      
        1 mvrgarqpqq prsrlaprlt gtvekpprkr rsrtefalke imssggaedd ipqgerktvt
       61 dfcylldksk qlfnglrdlp qygqkqwqsy fgrtfdvytk lwkfqqqhrq vldnryglkr
      121 wqigeiaski gqlyyhyylr tsetsylnea fsfysairqr syysqvnked rpelvvkklr
      181 yyarfivvcl llnkmdvvkd lvkelsdeie dythrfnted qvewnlvlqe vaafieadpv
      241 mvlnddntiv itsnrlaetg aplleqgmiv gqlsladali igncnnqvkf seltvdmfrm
      301 lqalerepmn lasqmnkpgm qesadkptrr enphkyllyk ptfsqlytfl aasfkelpan
      361 svlliylsat gvfptgrsds egpydfggvl tnsnrdiing daihkrnqsh kemhclhpgd
      421 lypftrkplf iivdssnsva yknftnlfgq plvcllspta ypkalqdqsq rgslftlfln
      481 nplmaflfvs glssmrrglw ekcqeylrki nrdiaqllth srsidqaflq ffgdeflrll
      541 ltrfifcsat mrmhkifret rnypesypql prdetvenph lqkhilelas ildvrnvffe
      601 ntiddy
//
LOCUS       NP_001363691             563 aa            linear   PRI 28-DEC-2022
DEFINITION  pre-mRNA 3'-end-processing factor FIP1 isoform 22 [Homo sapiens].
ACCESSION   NP_001363691
VERSION     NP_001363691.1
DBSOURCE    REFSEQ: accession NM_001376762.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 563)
  AUTHORS   Muckenfuss LM, Migenda Herranz AC, Boneberg FM, Clerici M and Jinek
            M.
  TITLE     Fip1 is a multivalent interaction scaffold for processing factors
            in human mRNA 3' end biogenesis
  JOURNAL   Elife 11, e80332 (2022)
   PUBMED   36073787
  REMARK    GeneRIF: Fip1 is a multivalent interaction scaffold for processing
            factors in human mRNA 3' end biogenesis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 563)
  AUTHORS   Tennenbaum J, Groh M, Venditti L, Campos-Gazeau F, Chalayer E, De
            Broucker T, Hamidou M, Hunault M, Lyoubi A, Meunier R, Muron T,
            Sene D, Slama B, Guidoux C, Lefevre G, Kahn JE, Denier C and Rohmer
            J.
  TITLE     FIP1L1-PDGFRA-Associated Hypereosinophilic Syndrome as a Treatable
            Cause of Watershed Infarction
  JOURNAL   Stroke 52 (10), e605-e609 (2021)
   PUBMED   34304603
  REMARK    GeneRIF: FIP1L1-PDGFRA-Associated Hypereosinophilic Syndrome as a
            Treatable Cause of Watershed Infarction.
REFERENCE   3  (residues 1 to 563)
  AUTHORS   Helbig G, Lewandowski K, Swiderska A, Rodzaj M, Seferynska I and
            Gajkowska-Kulik J.
  TITLE     Exquisite response to imatinib mesylate in FIP1L1-PDGFRA-mutated
            hypereosinophilic syndrome: a 12-year experience of the Polish
            Hypereosinophilic Syndrome Study Group
  JOURNAL   Pol Arch Intern Med 130 (3), 255-257 (2020)
   PUBMED   32125294
  REMARK    GeneRIF: Exquisite response to imatinib mesylate in
            FIP1L1-PDGFRA-mutated hypereosinophilic syndrome: a 12-year
            experience of the Polish Hypereosinophilic Syndrome Study Group.
REFERENCE   4  (residues 1 to 563)
  AUTHORS   Skarp S, Kamarainen OP, Wei GH, Jakkula E, Kiviranta I, Kroger H,
            Auvinen J, Lehenkari P, Ala-Kokko L and Mannikko M.
  TITLE     Whole exome sequencing in Finnish families identifies new candidate
            genes for osteoarthritis
  JOURNAL   PLoS One 13 (8), e0203313 (2018)
   PUBMED   30157244
  REMARK    GeneRIF: Two identified variants revealed novel candidate genes for
            hip and knee osteoarthritis. OLIG3 and FIP1L1 have specific roles
            in transcription and may effect expression of other genes.
            Identified variants in these genes may thus have a role in the
            regulatory events leading to osteoarthritis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 563)
  AUTHORS   Hilal T, Fauble V, Ketterling RP and Kelemen K.
  TITLE     Myeloid neoplasm with eosinophilia associated with isolated
            extramedullary FIP1L1/PDGFRA rearrangement
  JOURNAL   Cancer Genet 220, 13-18 (2018)
   PUBMED   29310833
  REMARK    GeneRIF: Herein, we report a case of a 53-year-old man with
            eosinophilia and a well-differentiated extramedullary myeloid tumor
            with evidence of FIP1L1/PDGFRA rearrangement by fluorescent in situ
            hybridization in the extramedullary tissue.
REFERENCE   6  (residues 1 to 563)
  AUTHORS   Cools J, Quentmeier H, Huntly BJ, Marynen P, Griffin JD, Drexler HG
            and Gilliland DG.
  TITLE     The EOL-1 cell line as an in vitro model for the study of
            FIP1L1-PDGFRA-positive chronic eosinophilic leukemia
  JOURNAL   Blood 103 (7), 2802-2805 (2004)
   PUBMED   14630792
  REMARK    GeneRIF: results indicate that the fusion of FIP1L1 to PDGFRA
            occurs rarely in leukemia cell lines
REFERENCE   7  (residues 1 to 563)
  AUTHORS   Kaufmann I, Martin G, Friedlein A, Langen H and Keller W.
  TITLE     Human Fip1 is a subunit of CPSF that binds to U-rich RNA elements
            and stimulates poly(A) polymerase
  JOURNAL   EMBO J 23 (3), 616-626 (2004)
   PUBMED   14749727
REFERENCE   8  (residues 1 to 563)
  AUTHORS   Pardanani A, Ketterling RP, Brockman SR, Flynn HC, Paternoster SF,
            Shearer BM, Reeder TL, Li CY, Cross NC, Cools J, Gilliland DG,
            Dewald GW and Tefferi A.
  TITLE     CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in
            systemic mastocytosis associated with eosinophilia and predicts
            response to imatinib mesylate therapy
  JOURNAL   Blood 102 (9), 3093-3096 (2003)
   PUBMED   12842979
  REMARK    GeneRIF: observations suggest that the FIP1L1-PDGFRA rearrangement
            occurs in an early hematopoietic progenitor and suggests that the
            molecular pathogenesis for a subset of SMCD patients is similar to
            that of HES
REFERENCE   9  (residues 1 to 563)
  AUTHORS   Griffin JH, Leung J, Bruner RJ, Caligiuri MA and Briesewitz R.
  TITLE     Discovery of a fusion kinase in EOL-1 cells and idiopathic
            hypereosinophilic syndrome
  JOURNAL   Proc Natl Acad Sci U S A 100 (13), 7830-7835 (2003)
   PUBMED   12808148
REFERENCE   10 (residues 1 to 563)
  AUTHORS   Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, Cortes J,
            Kutok J, Clark J, Galinsky I, Griffin JD, Cross NC, Tefferi A,
            Malone J, Alam R, Schrier SL, Schmid J, Rose M, Vandenberghe P,
            Verhoef G, Boogaerts M, Wlodarska I, Kantarjian H, Marynen P,
            Coutre SE, Stone R and Gilliland DG.
  TITLE     A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes
            as a therapeutic target of imatinib in idiopathic hypereosinophilic
            syndrome
  JOURNAL   N Engl J Med 348 (13), 1201-1214 (2003)
   PUBMED   12660384
  REMARK    GeneRIF: The hypereosinophilic syndrome may result from a novel
            fusion tyrosine kinase - FIP1L1-PDGFRalpha - that is a consequence
            of an interstitial chromosomal deletion.
            GeneRIF: Describes the fusion gene Fip1-like-1-PDGFRalpha in
            patients with idiopathic hypereosinophilic syndrome, mostly
            responsive to imatinib therapy.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC098821.3 and AC058822.6.
            
            Summary: This gene encodes a subunit of the CPSF (cleavage and
            polyadenylation specificity factor) complex that polyadenylates the
            3' end of mRNA precursors. This gene, the homolog of yeast Fip1
            (factor interacting with PAP), binds to U-rich sequences of
            pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus
            contains a PAP-binding site and its C-terminus an RNA-binding
            domain. An interstitial chromosomal deletion on 4q12 creates an
            in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived
            growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene
            encodes a constitutively activated tyrosine kinase that joins the
            first 233 amino acids of FIP1L1 to the last 523 amino acids of
            PDGFRA. This gene fusion and chromosomal deletion is the cause of
            some forms of idiopathic hypereosinophilic syndrome (HES). This
            syndrome, recently reclassified as chronic eosinophilic leukemia
            (CEL), is responsive to treatment with tyrosine kinase inhibitors.
            Alternative splicing results in multiple transcript variants
            encoding distinct isoforms. [provided by RefSeq, Oct 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3592620.1,
                                           SRR18074969.954099.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..563
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     Protein         1..563
                     /product="pre-mRNA 3'-end-processing factor FIP1 isoform
                     22"
                     /note="rearranged in hypereosinophilia; pre-mRNA
                     3'-end-processing factor FIP1; FIP1-like 1 protein; factor
                     interacting with PAP; FIP1 like 1; FIP1L1 cleavage and
                     polyadenylation specific factor subunit"
                     /calculated_mol_wt=62816
     Region          139..181
                     /region_name="Fip1"
                     /note="Fip1 motif; pfam05182"
                     /db_xref="CDD:398722"
     CDS             1..563
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /coded_by="NM_001376762.1:199..1890"
                     /note="isoform 22 is encoded by transcript variant 22"
                     /db_xref="GeneID:81608"
                     /db_xref="HGNC:HGNC:19124"
                     /db_xref="MIM:607686"
ORIGIN      
        1 msageverlv selsggtggd eeeewlygde neverpeeen asanppsgie detaengvpk
       61 pkvtetedds dsdsdddedd vhvtigdikt gapqygsygt apvnlniktg grvygttgtk
      121 vkgvdldapg singvpllev dldsfedkpw rkpgadlsdy fnygfnedtw kaycekqkri
      181 rmglevipvt sttnkitqgr tgnseketal pstkaeftsp pslfktglpp srnstssqsq
      241 tstasrkans svgkwqdryg raespdlrrl pgaidvigqt itisrvegrr ranensniqv
      301 lsersatevd nnfskpppff ppgappthlp pppflppppt vstapplipp pgipitvppp
      361 gfppppgapp psliptiesg hssgydsrsa rafpygnvaf phlpgsapsw pslvdtskqw
      421 dyyarrekdr drerdrdrer drdrdrerer trerererdh sptpsvfnsd eeryryreya
      481 ergyerhras rekeerhrer rhrekeetrh kssrsnsrrr heseegdshr rhkhkkskrs
      541 kegkeagsep apeqesteat pae
//
LOCUS       NP_001372906             797 aa            linear   PRI 28-DEC-2022
DEFINITION  protein FAM13B isoform 5 [Homo sapiens].
ACCESSION   NP_001372906 XP_016865040
VERSION     NP_001372906.1
DBSOURCE    REFSEQ: accession NM_001385977.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 797)
  AUTHORS   Orvedahl A, Sumpter R Jr, Xiao G, Ng A, Zou Z, Tang Y, Narimatsu M,
            Gilpin C, Sun Q, Roth M, Forst CV, Wrana JL, Zhang YE, Luby-Phelps
            K, Xavier RJ, Xie Y and Levine B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   2  (residues 1 to 797)
  AUTHORS   Lai F, Godley LA, Joslin J, Fernald AA, Liu J, Espinosa R 3rd, Zhao
            N, Pamintuan L, Till BG, Larson RA, Qian Z and Le Beau MM.
  TITLE     Transcript map and comparative analysis of the 1.5-Mb commonly
            deleted segment of human 5q31 in malignant myeloid diseases with a
            del(5q)
  JOURNAL   Genomics 71 (2), 235-245 (2001)
   PUBMED   11161817
REFERENCE   3  (residues 1 to 797)
  AUTHORS   Lai F, Godley LA, Fernald AA, Orelli BJ, Pamintuan L, Zhao N and Le
            Beau MM.
  TITLE     cDNA cloning and genomic structure of three genes localized to
            human chromosome band 5q31 encoding potential nuclear proteins
  JOURNAL   Genomics 70 (1), 123-130 (2000)
   PUBMED   11087669
REFERENCE   4  (residues 1 to 797)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC113382.2 and AC106753.3.
            On Jul 31, 2020 this sequence version replaced XP_016865040.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.4204565.1,
                                           SRR11853567.24648.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..797
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     Protein         1..797
                     /product="protein FAM13B isoform 5"
                     /note="family with sequence similarity 13, member B1;
                     GAP-like protein N61; protein FAM13B"
                     /calculated_mol_wt=91243
     Region          <1..87
                     /region_name="RhoGAP"
                     /note="GTPase-activator protein (GAP) for Rho-like
                     GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases.
                     Small GTPases (G proteins) cluster into distinct families,
                     and all act as molecular switches, active in their
                     GTP-bound form but inactive when bound to...; cl02570"
                     /db_xref="CDD:445838"
     Region          739..778
                     /region_name="RecQL4_SLD2_NTD"
                     /note="N-terminal homeodomain-like domain of metazoan RecQ
                     protein-like 4 (RecQL4), fungal DNA replication regulator
                     SLD2 and similar proteins; cd22289"
                     /db_xref="CDD:412085"
     CDS             1..797
                     /gene="FAM13B"
                     /gene_synonym="ARHGAP49; C5orf5; FAM13B1; KHCHP; N61"
                     /coded_by="NM_001385977.1:663..3056"
                     /note="isoform 5 is encoded by transcript variant 13"
                     /db_xref="GeneID:51306"
                     /db_xref="HGNC:HGNC:1335"
                     /db_xref="MIM:609371"
ORIGIN      
        1 mqlsqdynne defgrklrfl lqqlppvnys llkflcrfla nvashheeiw sanslaavfg
       61 pdvfhiytdv edmkeqeivs rimaglleny yeffeneeed fssndlssit eqvnelseee
      121 eedeklehie elpeegaeks ndmpevvqlr mtenilesns vtatsthisp isilpastdi
      181 lertiraave qhlfdlqssi dhdlknlqqq svvcnneaes ihcdgegsnn qidiaddiin
      241 asesnrdcsk pvastnldne amqqdcvfen eentqsvgil lepcsdrgds edgclereey
      301 llfdsdklsh lildssskic dlnantesev pggqsvgvqg eaacvsiphl dlknvsdgdk
      361 weepfpafks wqedsesgea qlspqagrmn hhpleedcpp vlshrsldfg qsqrflhdpe
      421 kldssskals ftrirrssfs skdekredrt pyqlvkklqk kirqfeeqfe rernskpsys
      481 diaanpkvlk wmteltklrk qikdakhkns dgefvpqtrp rsntlpksfg ssldhedeen
      541 edepkviqke kkpskeatle lilkrlkekr ierclpedik kmtkdhlvee kaslqkslly
      601 yesqhgrpvt keerhivkpl ydryrlvkqm ltrasitpvl gspstkrrgq mlqpiieget
      661 ahffeeikee eedgvnlsse lgdmlktavq vqsslenses dveenqekla ldlrlsssra
      721 asmpelleql wkaraekkkl rktlrefeea fyqqngrnaq kedrvpvlee yreykkikak
      781 lrllevlisk qdssksi
//
LOCUS       NP_001273703              92 aa            linear   PRI 30-DEC-2022
DEFINITION  OCIA domain-containing protein 2 isoform 3 [Homo sapiens].
ACCESSION   NP_001273703
VERSION     NP_001273703.1
DBSOURCE    REFSEQ: accession NM_001286774.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 92)
  AUTHORS   Maki M, JeongMin H, Nakagawa T, Kawai H, Sakamoto N, Sato Y and
            Noguchi M.
  TITLE     Aberrant OCIAD2 demethylation in lung adenocarcinoma is associated
            with outcome
  JOURNAL   Pathol Int 72 (10), 496-505 (2022)
   PUBMED   35920378
  REMARK    GeneRIF: Aberrant OCIAD2 demethylation in lung adenocarcinoma is
            associated with outcome.
REFERENCE   2  (residues 1 to 92)
  AUTHORS   Chojnacka KJ, Elancheliyan P, Mussulini BHM, Mohanraj K, Callegari
            S, Gosk A, Banach T, Goral T, Szczepanowska K, Rehling P, Serwa RA
            and Chacinska A.
  TITLE     Ovarian carcinoma immunoreactive antigen-like protein 2 (OCIAD2) is
            a novel complex III-specific assembly factor in mitochondria
  JOURNAL   Mol Biol Cell 33 (4), ar29 (2022)
   PUBMED   35080992
  REMARK    GeneRIF: Ovarian carcinoma immunoreactive antigen-like protein 2
            (OCIAD2) is a novel complex III-specific assembly factor in
            mitochondria.
REFERENCE   3  (residues 1 to 92)
  AUTHORS   Hong J, Shiba-Ishii A, Kim Y, Noguchi M and Sakamoto N.
  TITLE     Ovarian carcinoma immunoreactive antigen domain 2 controls
            mitochondrial apoptosis in lung adenocarcinoma
  JOURNAL   Cancer Sci 112 (12), 5114-5126 (2021)
   PUBMED   34628698
  REMARK    GeneRIF: Ovarian carcinoma immunoreactive antigen domain 2 controls
            mitochondrial apoptosis in lung adenocarcinoma.
REFERENCE   4  (residues 1 to 92)
  AUTHORS   Yang Z, Ouyang T, Aoyagi H, Wang T, Xing X, Zhang Y, Wang Y, Li Y,
            Aizaki H, Li S and Kong L.
  TITLE     Cellular OCIAD2 protein is a proviral factor for hepatitis C virus
            replication
  JOURNAL   Int J Biol Macromol 188, 147-159 (2021)
   PUBMED   34371038
  REMARK    GeneRIF: Cellular OCIAD2 protein is a proviral factor for hepatitis
            C virus replication.
REFERENCE   5  (residues 1 to 92)
  AUTHORS   Sakashita M, Sakashita S, Murata Y, Shiba-Ishii A, Kim Y, Matsuoka
            R, Nakano N, Sato Y and Noguchi M.
  TITLE     High expression of ovarian cancer immunoreactive antigen domain
            containing 2 (OCIAD2) is associated with poor prognosis in lung
            adenocarcinoma
  JOURNAL   Pathol Int 68 (11), 596-604 (2018)
   PUBMED   30320419
  REMARK    GeneRIF: Our results suggest that OCIAD2 could be a useful
            prognostic biomarker of lung adenocarcinoma
REFERENCE   6  (residues 1 to 92)
  AUTHORS   Han J, Jung S, Jang J, Kam TI, Choi H, Kim BJ, Nah J, Jo DG,
            Nakagawa T, Nishimura M and Jung YK.
  TITLE     OCIAD2 activates gamma-secretase to enhance amyloid beta production
            by interacting with nicastrin
  JOURNAL   Cell Mol Life Sci 71 (13), 2561-2576 (2014)
   PUBMED   24270855
  REMARK    GeneRIF: OCIAD2 also increased the interaction of nicastrin with
            C99 and stimulated APP processing via gamma-secretase activation,
            but did not affect Notch processing
REFERENCE   7  (residues 1 to 92)
  AUTHORS   Zhang R, Zhao C, Xiong Z and Zhou X.
  TITLE     Pathway bridge based multiobjective optimization approach for
            lurking pathway prediction
  JOURNAL   Biomed Res Int 2014, 351095 (2014)
   PUBMED   24949437
  REMARK    GeneRIF: it well explained the mechanism of TGFbeta induced OCIAD2
            expression in cancer microenvironment, therefore providing an
            important clue for the future functional analysis of OCIAD2 in
            tumor pathogenesis.
REFERENCE   8  (residues 1 to 92)
  AUTHORS   Nagata C, Kobayashi H, Sakata A, Satomi K, Minami Y, Morishita Y,
            Ohara R, Yoshikawa H, Arai Y, Nishida M and Noguchi M.
  TITLE     Increased expression of OCIA domain containing 2 during stepwise
            progression of ovarian mucinous tumor
  JOURNAL   Pathol Int 62 (7), 471-476 (2012)
   PUBMED   22726067
  REMARK    GeneRIF: Like OCIAD1, OCIAD2 is a cancer-related protein and its
            expression level increases during the course of malignant
            progression and is thought to be a very useful marker for
            evaluating the malignancy of ovarian mucinous tumors.
REFERENCE   9  (residues 1 to 92)
  AUTHORS   Ishiyama T, Kano J, Anami Y, Onuki T, Iijima T, Morisita Y, Yokota
            J and Noguchi M.
  TITLE     OCIA domain containing 2 is highly expressed in adenocarcinoma
            mixed subtype with bronchioloalveolar carcinoma component and is
            associated with better prognosis
  JOURNAL   Cancer Sci 98 (1), 50-57 (2007)
   PUBMED   17054434
REFERENCE   10 (residues 1 to 92)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI546814.1, BU508058.1, BG748993.1 and AC105444.2.
            
            Transcript Variant: This variant (4) differs in its 5' UTR and
            initiates translation at a downstream start codon, compared to
            variant 1. The encoded isoform (3) has a shorter N-terminus,
            compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BU508058.1, BU687223.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..92
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p11"
     Protein         1..92
                     /product="OCIA domain-containing protein 2 isoform 3"
                     /note="OCIA domain-containing protein 2; ovarian carcinoma
                     immunoreactive antigen-like protein; ovarian cancer
                     immunoreactive antigen domain containing 2"
                     /calculated_mol_wt=9771
     Region          <1..55
                     /region_name="OCIA"
                     /note="Ovarian carcinoma immunoreactive antigen (OCIA);
                     pfam07051"
                     /db_xref="CDD:429264"
     CDS             1..92
                     /gene="OCIAD2"
                     /coded_by="NM_001286774.2:269..547"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="GeneID:132299"
                     /db_xref="HGNC:HGNC:28685"
                     /db_xref="MIM:619633"
ORIGIN      
        1 mlvtqglvyq gylaansrfg slpkvalagl lgfglgkvsy igvcqskfhf fedqlrgagf
       61 gpqhnrhcll tceeckikhg lsekgdsqps as
//
LOCUS       NP_003972                620 aa            linear   PRI 29-JAN-2023
DEFINITION  protein regulator of cytokinesis 1 isoform 1 [Homo sapiens].
ACCESSION   NP_003972
VERSION     NP_003972.2
DBSOURCE    REFSEQ: accession NM_003981.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 620)
  AUTHORS   Hanselmann S, Gertzmann D, Shin WJ, Ade CP and Gaubatz S.
  TITLE     Expression of the cytokinesis regulator PRC1 results in p53-pathway
            activation in A549 cells but does not directly regulate gene
            expression in the nucleus
  JOURNAL   Cell Cycle 22 (4), 419-432 (2023)
   PUBMED   36135961
  REMARK    GeneRIF: Expression of the cytokinesis regulator PRC1 results in
            p53-pathway activation in A549 cells but does not directly regulate
            gene expression in the nucleus.
REFERENCE   2  (residues 1 to 620)
  AUTHORS   Zhu P, Cui N, Song ZY, Yong WX, Luo XX, Wang GC, Wang X, Wu YN, Xu
            Q, Zhang LM, Hao GX, Liu Y and Zhang ZM.
  TITLE     PRC1 plays an important role in lung adenocarcinoma and is
            potentially targeted by fostamatinib
  JOURNAL   Eur Rev Med Pharmacol Sci 26 (23), 8924-8934 (2022)
   PUBMED   36524512
  REMARK    GeneRIF: PRC1 plays an important role in lung adenocarcinoma and is
            potentially targeted by fostamatinib.
REFERENCE   3  (residues 1 to 620)
  AUTHORS   Zhang C, Xu H, Sui X, Wu T, Chen B, Wang S and Wang X.
  TITLE     Protein Regulator of Cytokinesis 1 (PRC1) Upregulation Promotes
            Immune Suppression in Liver Hepatocellular Carcinoma
  JOURNAL   J Immunol Res 2022, 7073472 (2022)
   PUBMED   35983074
  REMARK    GeneRIF: Protein Regulator of Cytokinesis 1 (PRC1) Upregulation
            Promotes Immune Suppression in Liver Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 620)
  AUTHORS   Eeftens JM, Kapoor M, Michieletto D and Brangwynne CP.
  TITLE     Polycomb condensates can promote epigenetic marks but are not
            required for sustained chromatin compaction
  JOURNAL   Nat Commun 12 (1), 5888 (2021)
   PUBMED   34620850
  REMARK    GeneRIF: Polycomb condensates can promote epigenetic marks but are
            not required for sustained chromatin compaction.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 620)
  AUTHORS   Li J, Ohmura S, Marchetto A, Orth MF, Imle R, Dallmayer M, Musa J,
            Knott MML, Holting TLB, Stein S, Funk CM, Sastre A, Alonso J,
            Bestvater F, Kasan M, Romero-Perez L, Hartmann W, Ranft A, Banito
            A, Dirksen U, Kirchner T, Cidre-Aranaz F and Grunewald TGP.
  TITLE     Therapeutic targeting of the PLK1-PRC1-axis triggers cell death in
            genomically silent childhood cancer
  JOURNAL   Nat Commun 12 (1), 5356 (2021)
   PUBMED   34531368
  REMARK    GeneRIF: Therapeutic targeting of the PLK1-PRC1-axis triggers cell
            death in genomically silent childhood cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 620)
  AUTHORS   Kurasawa Y, Earnshaw WC, Mochizuki Y, Dohmae N and Todokoro K.
  TITLE     Essential roles of KIF4 and its binding partner PRC1 in organized
            central spindle midzone formation
  JOURNAL   EMBO J 23 (16), 3237-3248 (2004)
   PUBMED   15297875
  REMARK    GeneRIF: kinesin family member 4 and its binding partner PRC1 play
            essential roles in the organization of central spindles and midzone
            formation
REFERENCE   7  (residues 1 to 620)
  AUTHORS   Ban R, Irino Y, Fukami K and Tanaka H.
  TITLE     Human mitotic spindle-associated protein PRC1 inhibits MgcRacGAP
            activity toward Cdc42 during the metaphase
  JOURNAL   J Biol Chem 279 (16), 16394-16402 (2004)
   PUBMED   14744859
  REMARK    GeneRIF: contributes to the correct formation of the spindle during
            the metaphase
REFERENCE   8  (residues 1 to 620)
  AUTHORS   Li C, Shridhar K and Liu J.
  TITLE     Molecular characterization of oncostatin M-induced growth arrest of
            MCF-7 cells expressing a temperature-sensitive mutant of p53
  JOURNAL   Breast Cancer Res Treat 80 (1), 23-37 (2003)
   PUBMED   12889596
REFERENCE   9  (residues 1 to 620)
  AUTHORS   Mollinari C, Kleman JP, Jiang W, Schoehn G, Hunter T and Margolis
            RL.
  TITLE     PRC1 is a microtubule binding and bundling protein essential to
            maintain the mitotic spindle midzone
  JOURNAL   J Cell Biol 157 (7), 1175-1186 (2002)
   PUBMED   12082078
  REMARK    GeneRIF: PRC1 is a microtubule-associated protein required to
            maintain the spindle midzone, and that distinct functions are
            associated with modular elements of the primary sequence.
REFERENCE   10 (residues 1 to 620)
  AUTHORS   Jiang W, Jimenez G, Wells NJ, Hope TJ, Wahl GM, Hunter T and
            Fukunaga R.
  TITLE     PRC1: a human mitotic spindle-associated CDK substrate protein
            required for cytokinesis
  JOURNAL   Mol Cell 2 (6), 877-885 (1998)
   PUBMED   9885575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC068831.17.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 24, 2018 this sequence version replaced NP_003972.1.
            
            Summary: This gene encodes a protein that is involved in
            cytokinesis. The protein is present at high levels during the S and
            G2/M phases of mitosis but its levels drop dramatically when the
            cell exits mitosis and enters the G1 phase. It is located in the
            nucleus during interphase, becomes associated with mitotic spindles
            in a highly dynamic manner during mitosis, and localizes to the
            cell mid-body during cytokinesis. This protein has been shown to be
            a substrate of several cyclin-dependent kinases (CDKs). It is
            necessary for polarizing parallel microtubules and concentrating
            the factors responsible for contractile ring assembly. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jun 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC003138.1, AF044588.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394249.8/ ENSP00000377793.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..620
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     Protein         1..620
                     /product="protein regulator of cytokinesis 1 isoform 1"
                     /note="protein regulating cytokinesis 1; anaphase spindle
                     elongation 1 homolog"
                     /calculated_mol_wt=71476
     Region          1..341
                     /region_name="Dimerization"
                     /note="propagated from UniProtKB/Swiss-Prot (O43663.2)"
     Region          1..303
                     /region_name="Required for the interaction with KIF4A.
                     /evidence=ECO:0000269|PubMed:15297875"
                     /note="propagated from UniProtKB/Swiss-Prot (O43663.2)"
     Region          16..477
                     /region_name="MAP65_ASE1"
                     /note="Microtubule associated protein (MAP65/ASE1 family);
                     pfam03999"
                     /db_xref="CDD:427641"
     Region          342..466
                     /region_name="Spectrin-fold"
                     /note="propagated from UniProtKB/Swiss-Prot (O43663.2)"
     Site            377
                     /site_type="other"
                     /note="Tubulin binding; propagated from
                     UniProtKB/Swiss-Prot (O43663.2)"
     Site            387
                     /site_type="other"
                     /note="Tubulin binding; propagated from
                     UniProtKB/Swiss-Prot (O43663.2)"
     Region          446..488
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43663.2)"
     Region          467..620
                     /region_name="Unstructured, Arg/Lys rich"
                     /note="propagated from UniProtKB/Swiss-Prot (O43663.2)"
     Site            470
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CDK1.
                     /evidence=ECO:0000269|PubMed:17351640,
                     ECO:0000269|PubMed:17438553, ECO:0000269|PubMed:9885575,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43663.2)"
     Site            481
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CDK1.
                     /evidence=ECO:0000269|PubMed:17351640,
                     ECO:0000269|PubMed:17438553, ECO:0000269|PubMed:9885575,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43663.2)"
     Site            513
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O43663.2)"
     Region          517..545
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43663.2)"
     Site            541
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O43663.2)"
     Site            571
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43663.2)"
     Site            578
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:17351640; propagated from
                     UniProtKB/Swiss-Prot (O43663.2)"
     Region          600..620
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43663.2)"
     Site            616
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PLK1.
                     /evidence=ECO:0000269|PubMed:17351640; propagated from
                     UniProtKB/Swiss-Prot (O43663.2)"
     CDS             1..620
                     /gene="PRC1"
                     /gene_synonym="ASE1"
                     /coded_by="NM_003981.4:119..1981"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS32334.1"
                     /db_xref="GeneID:9055"
                     /db_xref="HGNC:HGNC:9341"
                     /db_xref="MIM:603484"
ORIGIN      
        1 mrrsevlaee sivclqkaln hlreiwelig ipedqrlqrt evvkkhikel ldmmiaeees
       61 lkerliksis vcqkelntlc selhvepfqe egettilqle kdlrtqvelm rkqkkerkqe
      121 lkllqeqdqe lceilcmphy didsasvpsl eelnqfrqhv ttlretkasr reefvsikrq
      181 iilcmealdh tpdtsferdv vcededafcl sleniatlqk llrqlemqks qneavceglr
      241 tqirelwdrl qipeeereav atimsgskak vrkalqlevd rleelkmqnm kkvieairve
      301 lvqywdqcfy sqeqrqafap fcaedytesl lqlhdaeivr lknyyevhke lfegvqkwee
      361 twrlflefer kasdpnrftn rggnllkeek qraklqkmlp kleeelkari elweqehska
      421 fmvngqkfme yvaeqwemhr lekerakqer qlknkkqtet emlygsaprt pskrrglapn
      481 tpgkarklnt ttmsnatans sirpifggtv yhspvsrlpp sgskpvaast csgkktprtg
      541 rhgankenle lngsilsggy pgsaplqrnf sinsvastys efakdpslsd sstvglqrel
      601 skasksdats gilnstniqs
//
LOCUS       NP_001381342             210 aa            linear   PRI 11-MAR-2023
DEFINITION  syntaxin-binding protein 6 isoform 1 [Homo sapiens].
ACCESSION   NP_001381342 XP_016876729
VERSION     NP_001381342.1
DBSOURCE    REFSEQ: accession NM_001394413.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 210)
  AUTHORS   Liu Y, Huang Z, Wei Y, Zhang M, Li X, Yang S and Wang H.
  TITLE     Identification of STXBP6-IRF1 positive feedback loop in regulation
            of PD-L1 in cancer
  JOURNAL   Cancer Immunol Immunother 70 (2), 275-287 (2021)
   PUBMED   32700091
  REMARK    GeneRIF: Identification of STXBP6-IRF1 positive feedback loop in
            regulation of PD-L1 in cancer.
REFERENCE   2  (residues 1 to 210)
  AUTHORS   Lenka G, Tsai MH, Lin HC, Hsiao JH, Lee YC, Lu TP, Lee JM, Hsu CP,
            Lai LC and Chuang EY.
  TITLE     Identification of Methylation-Driven, Differentially Expressed
            STXBP6 as a Novel Biomarker in Lung Adenocarcinoma
  JOURNAL   Sci Rep 7, 42573 (2017)
   PUBMED   28198450
  REMARK    GeneRIF: Our results provide a basis for the genetic etiology of
            lung adenocarcinoma by demonstrating the possible role of
            hypermethylation of STXBP6 in poor clinical outcomes in lung cancer
            patients.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 210)
  AUTHORS   Guo Z, Neilson LJ, Zhong H, Murray PS, Zanivan S and Zaidel-Bar R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 210)
  AUTHORS   Scannell Bryan M, Argos M, Pierce B, Tong L, Rakibuz-Zaman M, Ahmed
            A, Rahman M, Islam T, Yunus M, Parvez F, Roy S, Jasmine F, Baron
            JA, Kibriya MG and Ahsan H.
  TITLE     Genome-wide association studies and heritability estimates of body
            mass index related phenotypes in Bangladeshi adults
  JOURNAL   PLoS One 9 (8), e105062 (2014)
   PUBMED   25133637
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 210)
  AUTHORS   Krintel SB, Essioux L, Wool A, Johansen JS, Schreiber E, Zekharya
            T, Akiva P, Ostergaard M and Hetland ML.
  TITLE     CD6 and syntaxin binding protein 6 variants and response to tumor
            necrosis factor alpha inhibitors in Danish patients with rheumatoid
            arthritis
  JOURNAL   PLoS One 7 (6), e38539 (2012)
   PUBMED   22685579
  REMARK    GeneRIF: Data suggest that genetic variations within CD6 and
            syntaxin binding protein 6 (STXBP6) may influence response to
            TNFalpha inhibitors in patients with rheumatoid arthritis (RA).
REFERENCE   6  (residues 1 to 210)
  AUTHORS   Furney SJ, Simmons A, Breen G, Pedroso I, Lunnon K, Proitsi P,
            Hodges A, Powell J, Wahlund LO, Kloszewska I, Mecocci P, Soininen
            H, Tsolaki M, Vellas B, Spenger C, Lathrop M, Shen L, Kim S, Saykin
            AJ, Weiner MW and Lovestone S.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative; AddNeuroMed Consortium
  TITLE     Genome-wide association with MRI atrophy measures as a quantitative
            trait locus for Alzheimer's disease
  JOURNAL   Mol Psychiatry 16 (11), 1130-1138 (2011)
   PUBMED   21116278
REFERENCE   7  (residues 1 to 210)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   8  (residues 1 to 210)
  AUTHORS   Sudhof TC.
  TITLE     The synaptic vesicle cycle
  JOURNAL   Annu Rev Neurosci 27, 509-547 (2004)
   PUBMED   15217342
  REMARK    Review article
REFERENCE   9  (residues 1 to 210)
  AUTHORS   Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C,
            Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A,
            Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H,
            Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon
            O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere
            F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R,
            Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A,
            Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S,
            Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C,
            Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S,
            Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C,
            Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P,
            Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois
            M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V,
            Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J,
            Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F,
            Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F,
            Waterston R, Hood L and Weissenbach J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
REFERENCE   10 (residues 1 to 210)
  AUTHORS   Scales SJ, Hesser BA, Masuda ES and Scheller RH.
  TITLE     Amisyn, a novel syntaxin-binding protein that may regulate SNARE
            complex assembly
  JOURNAL   J Biol Chem 277 (31), 28271-28279 (2002)
   PUBMED   12145319
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL161666.4, AL137164.3 and AL161663.4.
            On Apr 19, 2021 this sequence version replaced XP_016876729.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.9657.1,
                                           SRR11853562.9589.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..210
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     Protein         1..210
                     /product="syntaxin-binding protein 6 isoform 1"
                     /calculated_mol_wt=23423
     Region          2..131
                     /region_name="PH-STXBP6"
                     /note="PH-like domain of Syntaxin binding protein 6;
                     cd14681"
                     /db_xref="CDD:270200"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8NFX7.2)"
     Region          149..210
                     /region_name="R-SNARE_STXBP6"
                     /note="SNARE domain of STXBP6; cd15892"
                     /db_xref="CDD:277245"
     Site            order(150..151,154..155,157..159,161..166,168..170,
                     172..173,175..176,179..180,182..187,189..191,193..194,
                     196..201,203..204)
                     /site_type="other"
                     /note="heterotetramer interface [polypeptide binding]"
                     /db_xref="CDD:277245"
     Site            176
                     /site_type="other"
                     /note="zero layer"
                     /db_xref="CDD:277245"
     CDS             1..210
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /coded_by="NM_001394413.1:75..707"
                     /note="isoform 1 is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS9634.1"
                     /db_xref="GeneID:29091"
                     /db_xref="HGNC:HGNC:19666"
                     /db_xref="MIM:607958"
ORIGIN      
        1 msaksaiske ifaplderml gavqvkrrtk kkipflatgg qgeyltyicl svtnkkptqa
       61 sitkvkqfeg stsfvrrsqw mleqlrqvng idpngdsaef dllfenafdq wvastasekc
      121 tffqilhhtc qryltdrkpe fincqskimg gnsilhsaad svtsavqkas qalnergerl
      181 graeektedl knsaqqfaet ahklamkhkc
//
LOCUS       NP_055205                910 aa            linear   PRI 12-MAR-2023
DEFINITION  staphylococcal nuclease domain-containing protein 1 [Homo sapiens].
ACCESSION   NP_055205
VERSION     NP_055205.2
DBSOURCE    REFSEQ: accession NM_014390.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 910)
  AUTHORS   Zhao Y, Ren P, Yang Z, Wang L and Hu C.
  TITLE     Inhibition of SND1 overcomes chemoresistance in bladder cancer
            cells by promoting ferroptosis
  JOURNAL   Oncol Rep 49 (1) (2023)
   PUBMED   36453257
  REMARK    GeneRIF: Inhibition of SND1 overcomes chemoresistance in bladder
            cancer cells by promoting ferroptosis.
REFERENCE   2  (residues 1 to 910)
  AUTHORS   Zhou Y, Li Q, Zheng J and Lin N.
  TITLE     N-Glycosylation on Asn50 of SND1 Is Required for Glioma U87 Cell
            Proliferation and Metastasis
  JOURNAL   J Immunol Res 2022, 5239006 (2022)
   PUBMED   36213325
  REMARK    GeneRIF: N-Glycosylation on Asn50 of SND1 Is Required for Glioma
            U87 Cell Proliferation and Metastasis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 910)
  AUTHORS   Ha C, Hu L, Ren Y, Yang J and Xin L.
  TITLE     SND1 confers chemoresistance to cisplatin-induced apoptosis by
            targeting GAS6-AKT in SKOV3 ovarian cancer cells
  JOURNAL   Med Oncol 39 (11), 169 (2022)
   PUBMED   35972612
  REMARK    GeneRIF: SND1 confers chemoresistance to cisplatin-induced
            apoptosis by targeting GAS6-AKT in SKOV3 ovarian cancer cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 910)
  AUTHORS   Deng J, Liu S, Zhao L, Li Y, Shi J, Zhang H, Zhao Y, Han L, Wang H,
            Yan Y, Zhao H and Zou F.
  TITLE     SND1 acts as a functional target of miR-330-5p involved in
            modulating the proliferation, apoptosis and invasion of colorectal
            cancer cells
  JOURNAL   Biochem Biophys Res Commun 615, 116-122 (2022)
   PUBMED   35609416
  REMARK    GeneRIF: SND1 acts as a functional target of miR-330-5p involved in
            modulating the proliferation, apoptosis and invasion of colorectal
            cancer cells.
REFERENCE   5  (residues 1 to 910)
  AUTHORS   Yang J, Aittomaki S, Pesu M, Carter K, Saarinen J, Kalkkinen N,
            Kieff E and Silvennoinen O.
  TITLE     Identification of p100 as a coactivator for STAT6 that bridges
            STAT6 with RNA polymerase II
  JOURNAL   EMBO J 21 (18), 4950-4958 (2002)
   PUBMED   12234934
  REMARK    GeneRIF: These findings identify p100 as a novel coactivator for
            STAT6 and suggest that p100 functions as a bridging factor between
            STAT6 and the basal transcription machinery.
REFERENCE   6  (residues 1 to 910)
  AUTHORS   Broadhurst MK and Wheeler TT.
  TITLE     The p100 coactivator is present in the nuclei of mammary epithelial
            cells and its abundance is increased in response to prolactin in
            culture and in mammary tissue during lactation
  JOURNAL   J Endocrinol 171 (2), 329-337 (2001)
   PUBMED   11691653
REFERENCE   7  (residues 1 to 910)
  AUTHORS   Lienard P, Riviere M, Van Vooren P, Szpirer C and Szpirer J.
  TITLE     Assignment of SND1, the gene encoding coactivator p100, to human
            chromosome 7q31.3 and rat chromosome 4q23 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 90 (3-4), 253-254 (2000)
   PUBMED   11124528
REFERENCE   8  (residues 1 to 910)
  AUTHORS   Leverson JD, Koskinen PJ, Orrico FC, Rainio EM, Jalkanen KJ, Dash
            AB, Eisenman RN and Ness SA.
  TITLE     Pim-1 kinase and p100 cooperate to enhance c-Myb activity
  JOURNAL   Mol Cell 2 (4), 417-425 (1998)
   PUBMED   9809063
REFERENCE   9  (residues 1 to 910)
  AUTHORS   Callebaut I and Mornon JP.
  TITLE     The human EBNA-2 coactivator p100: multidomain organization and
            relationship to the staphylococcal nuclease fold and to the tudor
            protein involved in Drosophila melanogaster development
  JOURNAL   Biochem J 321 (Pt 1) (Pt 1), 125-132 (1997)
   PUBMED   9003410
REFERENCE   10 (residues 1 to 910)
  AUTHORS   Tong X, Drapkin R, Yalamanchili R, Mosialos G and Kieff E.
  TITLE     The Epstein-Barr virus nuclear protein 2 acidic domain forms a
            complex with a novel cellular coactivator that can interact with
            TFIIE
  JOURNAL   Mol Cell Biol 15 (9), 4735-4744 (1995)
   PUBMED   7651391
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC017180.2, BE799345.1 and
            BQ217773.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 9, 2005 this sequence version replaced NP_055205.1.
            
            Summary: This gene encodes a transcriptional co-activator that
            interacts with the acidic domain of Epstein-Barr virus nuclear
            antigen 2 (EBNA 2), a transcriptional activator that is required
            for B-lymphocyte transformation. Other transcription factors that
            interact with this protein are signal transducers and activators of
            transcription, STATs. This protein is also thought to be essential
            for normal cell growth. A similar protein in mammals and other
            organisms is a component of the RNA-induced silencing complex
            (RISC). [provided by RefSeq, Jul 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC017180.2, SRR1660809.165808.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354725.8/ ENSP00000346762.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..910
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.1"
     Protein         1..910
                     /product="staphylococcal nuclease domain-containing
                     protein 1"
                     /EC_number="3.1.31.1"
                     /note="EBNA2 coactivator p100; tudor domain-containing
                     protein 11; testis tissue sperm-binding protein Li 82P"
                     /calculated_mol_wt=101866
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.4,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378, ECO:0007744|PubMed:25944712;
                     propagated from UniProtKB/Swiss-Prot (Q7KZF4.1)"
     Region          21..166
                     /region_name="SNc"
                     /note="Staphylococcal nuclease homologues; smart00318"
                     /db_xref="CDD:214615"
     Site            103
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7KZF4.1)"
     Region          193..328
                     /region_name="SNc"
                     /note="Staphylococcal nuclease homologues; smart00318"
                     /db_xref="CDD:214615"
     Site            193
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q7KZF4.1)"
     Site            240
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7KZF4.1)"
     Region          321..325
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7KZF4.1)"
     Region          350..496
                     /region_name="SNc"
                     /note="Staphylococcal nuclease homologues. SNase
                     homologues are found in bacteria, archaea, and eukaryotes.
                     They contain no disufide bonds; cd00175"
                     /db_xref="CDD:238102"
     Site            order(354,368,374,377,435..436,438)
                     /site_type="other"
                     /note="Catalytic site"
                     /db_xref="CDD:238102"
     Region          388..392
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7KZF4.1)"
     Site            426
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q7KZF4.1)"
     Region          525..660
                     /region_name="SNc"
                     /note="Staphylococcal nuclease homologues; smart00318"
                     /db_xref="CDD:214615"
     Site            641
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q7KZF4.1)"
     Site            645
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7KZF4.1)"
     Region          703..785
                     /region_name="Tudor_TDRD11"
                     /note="Tudor domain found in Tudor domain-containing
                     protein 11 (TDRD11) and similar proteins; cd20433"
                     /db_xref="CDD:410504"
     Site            order(708,740,742,746,763,766,768)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:410504"
     Site            779
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q7KZF4.1)"
     Site            781
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q7KZF4.1)"
     Site            785
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7KZF4.1)"
     Region          <844..895
                     /region_name="SNc"
                     /note="Staphylococcal nuclease homologues. SNase
                     homologues are found in bacteria, archaea, and eukaryotes.
                     They contain no disufide bonds; cl00140"
                     /db_xref="CDD:412181"
     Site            909
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q7KZF4.1)"
     CDS             1..910
                     /gene="SND1"
                     /gene_synonym="p100; TDRD11; Tudor-SN"
                     /coded_by="NM_014390.4:181..2913"
                     /db_xref="CCDS:CCDS34747.1"
                     /db_xref="GeneID:27044"
                     /db_xref="HGNC:HGNC:30646"
                     /db_xref="MIM:602181"
ORIGIN      
        1 massaqsggs sggpavptvq rgiikmvlsg caiivrgqpr ggppperqin lsniragnla
       61 rraaatqpda kdtpdepwaf pareflrkkl igkevcftie nktpqgreyg miylgkdtng
      121 eniaeslvae glatrregmr annpeqnrls eceeqakaak kgmwsegngs htirdlkyti
      181 enprhfvdsh hqkpvnaiie hvrdgsvvra lllpdyylvt vmlsgikcpt frreadgset
      241 pepfaaeakf ftesrllqrd vqiileschn qnilgtilhp ngnitelllk egfarcvdws
      301 iavytrgaek lraaerfake rrlriwrdyv aptanldqkd kqfvakvmqv lnadaivvkl
      361 nsgdyktihl ssirpprleg entqdknkkl rplydipymf eareflrkkl igkkvnvtvd
      421 yirpaspate tvpafsertc atvtiggini aealvskgla tviryrqddd qrsshydell
      481 aaearaikng kglhskkevp ihrvadisgd tqkakqflpf lqragrseav veyvfsgsrl
      541 klylpketcl itfllagiec prgarnlpgl vqegepfsee atlftkelvl qreveveves
      601 mdkagnfigw lhidganlsv llvehalskv hftaerssyy ksllsaeeaa kqkkekvwah
      661 yeeqpveevm pvleekersa sykpvfvtei tddlhfyvqd vetgtqlekl menmrndias
      721 hppvegsyap rrgefciakf vdgewyrarv ekvespakih vfyidygnre vlpstrlgtl
      781 spafstrvlp aqateyafaf iqvpqdddar tdavdsvvrd iqntqcllnv ehlsagcphv
      841 tlqfadskgd vglglvkegl vmvevrkekq fqkviteyln aqesaksarl nlwrygdfra
      901 ddadefgysr
//
LOCUS       XP_016856423             536 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptotagmin-14 isoform X4 [Homo sapiens].
ACCESSION   XP_016856423
VERSION     XP_016856423.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017000934.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..536
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..536
                     /product="synaptotagmin-14 isoform X4"
                     /calculated_mol_wt=60289
     Region          222..345
                     /region_name="C2A_Synaptotagmin-14_16"
                     /note="C2A domain first repeat present in Synaptotagmins
                     14 and 16; cd08389"
                     /db_xref="CDD:176035"
     Region          378..534
                     /region_name="C2B_Synaptotagmin-14_16"
                     /note="C2 domain second repeat present in Synaptotagmins
                     14 and 16; cd08408"
                     /db_xref="CDD:176053"
     CDS             1..536
                     /gene="SYT14"
                     /gene_synonym="SCAR11; sytXIV"
                     /coded_by="XM_017000934.2:60..1670"
                     /db_xref="GeneID:255928"
                     /db_xref="HGNC:HGNC:23143"
                     /db_xref="MIM:610949"
ORIGIN      
        1 mlllflyink kfcfenvggf pdlgseystr knsqdkiyns ymdkdehgss sesedealgk
       61 yhealsrthn srlpladsrq rnyawetrqk ysplsaeydg ysseasideg nciqrmrrtp
      121 pldelqpppy qddsgsphls ctpseigdsk cefshcsnsp rcsynkcpse gstgheiesf
      181 hnkgyeedvp sdstavlspe dmsaqgsssq lpkpfdpepe akygtldvtf dydsqeqkll
      241 vtvtavtdip tynrtggnsw qvhlvllpik kqraktsiqr gpcpvftetf kfnhvesemi
      301 gnyavrfrly gvhrmkkeki vgekifyltk lnlqgkmslp vilepsynhs gcdsqmsvse
      361 mscsestssc qslehgsvpe iligllynat tgrlsaevik gshfknlaan rppnglfccl
      421 khliggqvyi irdtyvkltl lnsmgqemsk cktsirrgqp npvyketfvf qvalfqlsdv
      481 tlilsvynkr smkrkemigw islglnssge eelnhwtemk eskgqqvcrw halles
//
LOCUS       XP_047282221             449 aa            linear   PRI 20-MAR-2023
DEFINITION  mesoderm induction early response protein 1 isoform X9 [Homo
            sapiens].
ACCESSION   XP_047282221
VERSION     XP_047282221.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426265.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..449
                     /product="mesoderm induction early response protein 1
                     isoform X9"
                     /calculated_mol_wt=50929
     Region          119..168
                     /region_name="ELM2"
                     /note="ELM2 domain; pfam01448"
                     /db_xref="CDD:426267"
     Region          225..269
                     /region_name="SANT_MTA3_like"
                     /note="Myb-Like Dna-Binding Domain of MTA3 and related
                     proteins; cd11661"
                     /db_xref="CDD:212559"
     Site            order(225,255..256,258..259,261..263,265..267)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:212559"
     Region          279..>425
                     /region_name="MIER1_beta_C"
                     /note="Mesoderm induction early response protein 1 beta
                     C-terminal; pfam19426"
                     /db_xref="CDD:437258"
     CDS             1..449
                     /gene="MIER1"
                     /gene_synonym="ER1; MI-ER1"
                     /coded_by="XM_047426265.1:185..1534"
                     /db_xref="GeneID:57708"
                     /db_xref="HGNC:HGNC:29657"
                     /db_xref="MIM:616848"
ORIGIN      
        1 mpihellsly gygstvrlpe edeeeeeeee egeddedadn ddnsgcsgen keenikdssg
       61 qedetqssnd dpsqsvasqd aqeiirprrc kyfdtnseve eeseededyi psedwkkeim
      121 vgsmfqaeip vgicrykene kvyenddqll wdpeylpedk viiflkdasr rtgdekgvea
      181 ipegshikdn eqalyelvkc nfdteealrr lrfnvkaare elsvwteeec rnfeqglkay
      241 gkdfhliqan kvrtrsvgec vafyymwkks erydffaqqt rfgkkkynlh pgvtdymdrl
      301 ldesesaass rapsppptas nssnsqseke dgtvstanqn gvssngpgei lnkeevkveg
      361 lhingptggn kkplhadmdt ngyetdnltt dpklahmtar nendfdekse rpakrrrvns
      421 ngkespgsse ffqeavshgk feelentdd
//
LOCUS       XP_016871467            1900 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger SWIM domain-containing protein 8 isoform X2 [Homo
            sapiens].
ACCESSION   XP_016871467
VERSION     XP_016871467.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017015978.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1900
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1900
                     /product="zinc finger SWIM domain-containing protein 8
                     isoform X2"
                     /calculated_mol_wt=202252
     Region          <1015..>1156
                     /region_name="Treacle"
                     /note="Treacher Collins syndrome protein Treacle;
                     pfam03546"
                     /db_xref="CDD:427362"
     Region          <1502..>1794
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     CDS             1..1900
                     /gene="ZSWIM8"
                     /gene_synonym="KIAA0913"
                     /coded_by="XM_017015978.2:274..5976"
                     /db_xref="GeneID:23053"
                     /db_xref="HGNC:HGNC:23528"
                     /db_xref="MIM:619213"
ORIGIN      
        1 melmfaewed gerfsfedsd rfeedslcsf iseaeslcqn wrgwrkqsag pnsptggggg
       61 ggsggtrmrd glviplvels akqvafhipf evvekvyppv peqlqlriaf wsfpeneedi
      121 rlysclangs adefqrgdql frmravkdpl qigfhlsatv vppqmvppkg aynvavmfdr
      181 crvtscsctc gagakwcthv valclfrihn asavclrapv seslsrlqrd qlqkfaqyli
      241 selpqqilpt aqrlldells sqstaintvc gapdptagps asdqstwyld estltdnikk
      301 tlhkfcgpsp vvfsdvnsmy lssteppaaa ewacllrplr grepegvwnl lsivremfkr
      361 rdsnaaplle iltdqcltye qitgwwysvr tsashssasg htgrsngqse vaahacasmc
      421 demvtlwrla vldpalspqr rrelctqlrq wqlkvienvk rgqhkktler lfpgfrpave
      481 acyfnweeay plpgvtysgt drklalcwar alpsrpgasr sggleesrdr prplptepav
      541 rpkepgtkrk glgegvpssq rgprrlsaeg gdkalhkmgp gggkakalgg agsgskgsag
      601 ggskrrlsse dsslepdlae mslddsslal gaeastfggf pespppcplh ggsrgpstfl
      661 peppdtyeed ggvyfsegpe pptasvgppg llpgdvctqd dlpstdesgn glpktkeaap
      721 avgeedddyq ayylnaqdga ggeeekaegg ageehdlfag lkpleqesrm evlfacaeal
      781 hahgysseas rltvelaqdl lanppdlkve pppakgkknk vstsrqtwva tntlskaafl
      841 ltvlserpeh hnlafrvgmf alelqrppas tkalevklay qesevaallk kiplgpsems
      901 tmrcraeelr egtlcdyrpv lplmlasfif dvlcapgsrp psrnwnsetp gdeelgfeaa
      961 vaalgmkttv seaehpllce gtrrekgdla lalmitykdd qaklkkildk lldresqthk
     1021 pqtlssfyss srpttasqrs pskhggpsap galqpltsgs agpaqpgsva gagpgptegf
     1081 teknvpessp hspceglpse aaltprpegk vpsrlalgsr ggyngrgwgs pgrpkkkhtg
     1141 masidssape ttsdssptls rrplrggwap tswgrgqdsd sisssssdsl gsssssgsrr
     1201 asasggarak tvevgrykgr rpeshaphvp nqpseaaahf yfelaktvli kaggnsstsi
     1261 fthpsssggh qgphrnlhlc afeiglyalg lhnfvspnwl srtysshvsw itgqameigs
     1321 aaltilvecw dghltppeva sladrasrar dsnmvraaae lalsclphah alnpneiqra
     1381 lvqckeqdnl mlekacmave eaakgggvyp evlfevahqw fwlyeqtagg sstaregats
     1441 csasgiragg eagrgmpegr ggpgtepvtv aaaavtaaat vvpvisvgss lypgpglghg
     1501 hspglhpyta lqphlpcspq ylthpahpah pmphmprpav fpvpssaypq gvhpaflgaq
     1561 ypysvtppsl aatavsfpvp smapitvhpy htepglplpt svacelwgqg tvssvhpast
     1621 fpaiqgaslp alttqpsplv sggfpppeee thsqpvnphs lhhlhaayrv gmlalemlgr
     1681 rahndhpnnf srsppytddv kwllglaakl gdrhgdaaaa esrscpqppa cpglpptgaa
     1741 lpagihavhp ppldspdscg lrrlcecdpe cpqrllpdah ghdavqrhpt epqaqqtdqg
     1801 avaagltrdg hllplslspl gsytgtqacg yggpshrgse twldrsssls slvaqtdscs
     1861 waiawgqdvs hprslglget alsgrgrwva sgiylafini
//
LOCUS       XP_047284687             694 aa            linear   PRI 20-MAR-2023
DEFINITION  GAS2-like protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_047284687
VERSION     XP_047284687.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428731.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..694
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..694
                     /product="GAS2-like protein 3 isoform X1"
                     /calculated_mol_wt=75083
     Region          44..172
                     /region_name="CH_GAS2L3"
                     /note="calponin homology (CH) domain found in growth
                     arrest-specific protein 2-like 3; cd21269"
                     /db_xref="CDD:409118"
     Site            order(50,54,120,122..123,126..127,129,139..147,153,
                     155..156,158..159,162..163,166)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409118"
     Region          213..281
                     /region_name="GAS2"
                     /note="Growth-Arrest-Specific Protein 2 Domain; pfam02187"
                     /db_xref="CDD:426644"
     Region          <309..693
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     CDS             1..694
                     /gene="GAS2L3"
                     /gene_synonym="G2L3"
                     /coded_by="XM_047428731.1:544..2628"
                     /db_xref="GeneID:283431"
                     /db_xref="HGNC:HGNC:27475"
                     /db_xref="MIM:617224"
ORIGIN      
        1 mqpaiqvwfg edlplsprsp ltprhgpgla nvcqydewia vrheatllpm qedlsiwlsg
       61 llgikvkaek lleeldngvl lcqlidvlqn mvktcnsees gnfpmrkvpc kkdaasgsff
      121 ardntanflh wcrdigvdet ylfeseglvl hkdprqvylc lleigrivsr ygveppvlvk
      181 lekeieleet llntsgpeds isipksccrh eelheavkhi aedppcscsh rfsieylseg
      241 ryrlgdkilf irmlhgkhvm vrvgggwdtl qgfllkydpc rilqfatleq kilafqkgvs
      301 nesvpdspar tpqppemnpl savnmfqkqn skpsvpvsip kskekqgrpp galvpasslk
      361 ggnlgsmsvr sklpnspaas shpklksskg itkkpqapsn nassslasln pvgkntsspa
      421 lprtapcise sprkcisspn tpkakvipaq nsadlpestl lpnkcsgktq pkylkhnhis
      481 srdnavshla ahsnssskcp klpkanipvr pkpsfqssak mtktssktia tglgtqsqps
      541 dgapqakpvp aqklksalnl nqpvsvssvs pvkatqkskd knivsatkkq pqnksafqkt
      601 gpsslkspgr tplsivslpq sstktqtapk saqtvaksqh stkgpprsgk tpasirkpps
      661 svkdadsgdk kptakkkedd dhyfvmtgsk kprk
//
LOCUS       XP_047284724            2172 aa            linear   PRI 20-MAR-2023
DEFINITION  acetyl-CoA carboxylase 2 isoform X6 [Homo sapiens].
ACCESSION   XP_047284724
VERSION     XP_047284724.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428768.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2172
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..2172
                     /product="acetyl-CoA carboxylase 2 isoform X6"
                     /calculated_mol_wt=243108
     Region          260..763
                     /region_name="AccC"
                     /note="Biotin carboxylase [Lipid transport and
                     metabolism]; COG0439"
                     /db_xref="CDD:223516"
     Region          895..961
                     /region_name="Biotin_lipoyl"
                     /note="Biotin-requiring enzyme; pfam00364"
                     /db_xref="CDD:395290"
     Site            order(919,928..930,937)
                     /site_type="active"
                     /note="carboxyltransferase (CT) interaction site [active]"
                     /db_xref="CDD:133459"
     Site            929
                     /site_type="other"
                     /note="biotinylation site [posttranslational
                     modification]"
                     /db_xref="CDD:133459"
     Region          962..1688
                     /region_name="ACC_central"
                     /note="Acetyl-CoA carboxylase, central region; pfam08326"
                     /db_xref="CDD:429920"
     Region          1780..>2102
                     /region_name="Carboxyl_trans"
                     /note="Carboxyl transferase domain; pfam01039"
                     /db_xref="CDD:426008"
     CDS             1..2172
                     /gene="ACACB"
                     /gene_synonym="ACACbeta; ACC-beta; ACC2; ACCB; ACCbeta;
                     HACC275"
                     /coded_by="XM_047428768.1:1849..8367"
                     /db_xref="GeneID:32"
                     /db_xref="HGNC:HGNC:85"
                     /db_xref="MIM:601557"
ORIGIN      
        1 mvlllclscl ifscltfswl kiwgkmtdsk pitksksean lipsqepfpa sdnsgetpqr
       61 ngeghtlpkt psqaepashk gpkdagrrrn slppshqkpp rnplsssdaa pspelqangt
      121 gtqgleatdt nglsssarpq gqqagspske dkkqanikrq lmtnfilgsf ddyssdedsv
      181 agssrestrk gsraslgals leaylttgea etrvptmrps msglhlvkrg rehkkldlhr
      241 dftvaspaef vtrfggdrvi ekvlianngi aavkcmrsir rwayemfrne rairfvvmvt
      301 pedlkanaey ikmadhyvpv pggpnnnnya nvelivdiak ripvqavwag wghasenpkl
      361 pellckngva flgppseamw algdkiastv vaqtlqvptl pwsgsgltve wteddlqqgk
      421 risvpedvyd kgcvkdvdeg leaaerigfp lmikaseggg gkgirkaesa edfpilfrqv
      481 qseipgspif lmklaqharh levqiladqy gnavslfgrd csiqrrhqki veeapatiap
      541 laifefmeqc airlaktvgy vsagtveyly sqdgsfhfle lnprlqvehp ctemiadvnl
      601 paaqlqiamg vplhrlkdir llygespwgv tpisfetpsn pplarghvia aritsenpde
      661 gfkpssgtvq elnfrssknv wgyfsvaatg glhefadsqf ghcfswgenr eeaisnmvva
      721 lkelsirgdf rttveylinl letesfqnnd idtgwldyli aekvqaekpd imlgvvcgal
      781 nvadamfrtc mtdflhsler gqvlpadsll nlvdveliyg gvkyilkvar qsltmfvlim
      841 ngchieidah rlndggllls yngnsyttym keevdsyrit ignktcvfek endptvlrsp
      901 sagkltqytv edgghveags syaemevmkm imtlnvqerg rvkyikrpga vleagcvvar
      961 lelddpskvh paepftgelp aqqtlpilge klhqvfhsvl enltnvmsgf clpepvfsik
     1021 lkewvqklmm tlrhpslpll elqeimtsva gripapveks vrrvmaqyas nitsvlcqfp
     1081 sqqiatildc haatlqrkad revffintqs ivqlvqryrs girgymktvv ldllrrylrv
     1141 ehhfqqahyd kcvinlreqf kpdmsqvldc ifshaqvakk nqlvimlide lcgpdpslsd
     1201 elisilnelt qlsksehckv alrarqilia shlpsyelrh nqvesiflsa idmyghqfcp
     1261 enlkklilse ttifdvlptf fyhankvvcm aslevyvrrg yiayelnslq hrqlpdgtcv
     1321 vefqfmlpss hpnrmtvpis itnpdllrhs telfmdsgfs plcqrmgamv afrrfedftr
     1381 nfdeviscfa nvpkdtplfs eartslysed dckslreepi hilnvsiqca dhledealvp
     1441 ilrtfvqskk nilvdyglrr itfliaqeke fpkfftfrar defaedriyr hlepalafql
     1501 elnrmrnfdl tavpcanhkm hlylgaakvk egvevtdhrf firaiirhsd litkeasfey
     1561 lqnegerlll eamdelevaf nntsvrtdcn hiflnfvptv imdpfkiees vrymvmrygs
     1621 rlwklrvlqa evkinirqtt tgsavpirlf itnesgyyld islykevtds rsgnimfhsf
     1681 gnkqgpqhgm lintpyvtkd llqakrfqaq tlgttyiydf pemfrqalfk lwgspdkypk
     1741 diltytelvl dsqgqlvemn rlpggnevgm vafkmrfktq eypegrdviv ignditfrig
     1801 sfgpgedlly lrasemarae gipkiyvaan sgarigmaee ikhmfhvawv dpedphkgfk
     1861 ylyltpqdyt risslnsvhc khieeggesr ymitdiigkd dglgvenlrg sgmiagessl
     1921 ayeeivtisl vtcraigiga ylvrlgqrvi qvenshiilt gasalnkvlg revytsnnql
     1981 ggvqimhyng vshitvpddf egvytilewl sympkdnhsp vpiitptdpi dreieflpsr
     2041 apydprwmla grphptlkgt wqsgffdhgs fkeimapwaq tvvtgrarlg gipvgviave
     2101 trtvevavpa dpanldseak lcvpdnsagr tgvvprlslq nrpgrqglqp gevapddlcq
     2161 legvlrwher hv
//
LOCUS       XP_047290436             855 aa            linear   PRI 20-MAR-2023
DEFINITION  inactive rhomboid protein 1 isoform X4 [Homo sapiens].
ACCESSION   XP_047290436
VERSION     XP_047290436.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434480.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..855
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..855
                     /product="inactive rhomboid protein 1 isoform X4"
                     /calculated_mol_wt=96867
     Region          145..339
                     /region_name="Rhomboid_SP"
                     /note="Rhomboid serine protease; pfam12595"
                     /db_xref="CDD:432658"
     Region          647..790
                     /region_name="Rhomboid"
                     /note="Rhomboid family; pfam01694"
                     /db_xref="CDD:426384"
     CDS             1..855
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /coded_by="XM_047434480.1:540..3107"
                     /db_xref="GeneID:64285"
                     /db_xref="HGNC:HGNC:20561"
                     /db_xref="MIM:614403"
ORIGIN      
        1 mvnvcvcpgg wglglealll swelppangt scwrpgedsr mklafqacla lpgtmsearr
       61 dstsslqrkk ppwlkldips avpltaeeps flqplrrqaf lrsvsmpaet ahissphhel
      121 rrpvlqrqts itqtirrgta dwfgvskdsd stqkwqrksi rhcsqrygkl kpqvlreldl
      181 psqdnvslts tetppplyvg pcqlgmqkii dplargrafr vaddtaegls aphtpvtpga
      241 aslcsfsssr sgfhrlprrr kresvakmsf raaaalmkgr svrdgtfrra qrrsftpasf
      301 leedttdfpd eldtsffare gilheelsty pdevfespse aalkdwekap eqadltggal
      361 drselershl mlplergwrk qkegaaapqp kvrlrqevvs tagprrgqri avpvrklfar
      421 ekrpyglgmv grltnrtyrk ridsfvkrqi edmddhrpff tywltfvhsl vtilavciyg
      481 iapvgfsqhe tvdsvlrnrg vyenvkyvqq enfwigpsss tlavwvkwpi hpsapelagh
      541 krqfgsvchq dprvcdepss edphewpedi tkwpictkns agnhtnhphm dcvitgrpcc
      601 igtkgrceit sreycdfmrg yfheeatlcs qvhcmddvcg llpflnpevp dqfyrlwlsl
      661 flhagilhcl vsicfqmtvl rdleklagwh riaiiyllsg vtgnlasaif lpyraevgpa
      721 gsqfgilacl fvelfqswqi larpwraffk llavvlflft fgllpwidnf ahisgfisgl
      781 flsfaflpyi sfgkfdlyrk rcqiiifqvv flgllaglvv lfyvypvrce wcefltcipf
      841 tdkfcekyel daqlh
//
LOCUS       XP_016883147             232 aa            linear   PRI 20-MAR-2023
DEFINITION  dual specificity protein phosphatase 15 isoform X5 [Homo sapiens].
ACCESSION   XP_016883147
VERSION     XP_016883147.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017027658.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..232
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..232
                     /product="dual specificity protein phosphatase 15 isoform
                     X5"
                     /calculated_mol_wt=24737
     Region          <1..42
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     CDS             1..232
                     /gene="DUSP15"
                     /gene_synonym="C20orf57; VHY"
                     /coded_by="XM_017027658.2:473..1171"
                     /db_xref="GeneID:128853"
                     /db_xref="HGNC:HGNC:16236"
                     /db_xref="MIM:616776"
ORIGIN      
        1 mtvtglgwrd vleaikatrp ianpnpgfrq qleefgwass qkdgsgfate dedkewphrl
       61 aqqgsllppi llqalwlttg arhrtsktsg aqcppmtsat cllaarvall saalvreatg
      121 rtaqrcrlsp raaaerllgp pphvaagwsp dpkyqiclcf geedpgptqh pkeqlimadv
      181 qvqlrpgsss ctlsasterp dgsstpgnpd githlqcscl hpkraasssc tr
//
LOCUS       XP_047306121             761 aa            linear   PRI 20-MAR-2023
DEFINITION  amyloid beta precursor protein binding family B member 2 isoform X1
            [Homo sapiens].
ACCESSION   XP_047306121
VERSION     XP_047306121.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047450165.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..761
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..761
                     /product="amyloid beta precursor protein binding family B
                     member 2 isoform X1"
                     /calculated_mol_wt=83599
     Region          293..321
                     /region_name="WW"
                     /note="WW domain; pfam00397"
                     /db_xref="CDD:425661"
     Site            order(307,318)
                     /site_type="active"
                     /note="binding pocket [active]"
                     /db_xref="CDD:238122"
     Region          417..556
                     /region_name="PTB1_Fe65"
                     /note="Fe65 N-terminal Phosphotyrosine-binding (PTB)
                     domain; cd01272"
                     /db_xref="CDD:269970"
     Site            order(432,500,519)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:269970"
     Site            order(499..504,519,541,545)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269970"
     Region          585..711
                     /region_name="PTB2_Fe65"
                     /note="Fe65 C-terminal Phosphotyrosine-binding (PTB)
                     domain; cd01271"
                     /db_xref="CDD:269969"
     Site            order(596,670,689)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269969"
     Site            order(607,609,657..658,660..667,669,677,683,693,695,698,
                     702,705..706,708..709)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:269969"
     CDS             1..761
                     /gene="APBB2"
                     /gene_synonym="FE65L; FE65L1"
                     /coded_by="XM_047450165.1:191..2476"
                     /db_xref="GeneID:323"
                     /db_xref="HGNC:HGNC:582"
                     /db_xref="MIM:602710"
ORIGIN      
        1 msevlpadsg vdtlavfmas sgttdvtnrn spatppntln lrsshnelln aeikhtetkn
       61 stppkcrkky altniqaamg lsdpaaqpll gngsaniklv kngenqlrka aeqgqqdpnk
      121 nlsptavini tseklegkep hpqdssscei lpsqprrtks flnyyadlet sareleqnrg
      181 nhhgtaeeks qpvqgqasti igngdlllqk pnrpqssped gqvatvsssp etkkdhpktg
      241 aktdcalhri qnlapsdees swttlsqdsa spsspdetad iwsdhsfqtd pdlppgwkrv
      301 sdiagtyywh iptgttqwer pvsipadlqg srkgslssvt psptpenekq pwsdfavlng
      361 gkinsdiwkd lhaatvnpdp slkefegatl ryaslklrna phpddddscs insdpeakcf
      421 avrslgwvem aeedlapgks svavnncirq lsyckndird tvgiwgegkd mylilendml
      481 slvdpmdrsv lhsqpivsir vwgvgrdngr erdfayvard kdtrilkchv frcdtpakai
      541 atslheicsk imaerknaka lacsslqera nvnldvplqv dfptpktelv qkfhvqylgm
      601 lpvdkpvgmd ilnsaienlm tssnkedwls vnmnvadatv tvisekneee vlvecrvrfl
      661 sfmgvgkdvh tfafimdtgn qrfechvfwc epnagnvsea vqaacmlryq kclvarppsq
      721 kvrpppppad svtrrvttnv krgvlslidt lkqkrpvtem p
//
LOCUS       XP_005249228             420 aa            linear   PRI 20-MAR-2023
DEFINITION  24-hydroxycholesterol 7-alpha-hydroxylase isoform X5 [Homo
            sapiens].
ACCESSION   XP_005249228
VERSION     XP_005249228.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005249171.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..420
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..420
                     /product="24-hydroxycholesterol 7-alpha-hydroxylase
                     isoform X5"
                     /calculated_mol_wt=48169
     Region          49..417
                     /region_name="cytochrome_P450"
                     /note="cytochrome P450 (CYP) superfamily; cl41757"
                     /db_xref="CDD:425388"
     Site            order(112,116,123,170,269..270,273..274,277..278,281,336,
                     344,346,369,406..408,412..416)
                     /site_type="other"
                     /note="heme binding site [chemical binding]"
                     /db_xref="CDD:410651"
     Site            order(197..198,269,272..273,277,342..345)
                     /site_type="other"
                     /note="chemical substrate binding pocket [chemical
                     binding]"
                     /db_xref="CDD:410651"
     CDS             1..420
                     /gene="CYP39A1"
                     /coded_by="XM_005249171.5:237..1499"
                     /db_xref="GeneID:51302"
                     /db_xref="HGNC:HGNC:17449"
                     /db_xref="MIM:605994"
ORIGIN      
        1 melisptvii ilgclalfll lqrknlrrpp cikgwipwig vgfefgkapl efiekariky
       61 gpiftvfamg nrmtfvteee ginvflkskk vdfelavqni vyrtasipkn vflalhekly
      121 imlkgkmgtv nlhqftgqlt eelheqlenl gthgtmdlnn lvrhllypvt vnmlfnkslf
      181 stnkkkikef hqyfqvyded feygsqlpec llrnwskskk wflelfekni pdikacksak
      241 dnsmtllqat ldivetetsk enspnyglll lwaslsnavp vafwtlayvl shpdihkaim
      301 egissvfgka gkdkikvsed dlenlllikw cvletirlka pgvitrkvvk pveilnyiip
      361 sgdllmlspf wlhrnpkyfp epelfkperw kkanlekhsf ldcfmafgsg kfqcparkgf
//
LOCUS       XP_047276803             812 aa            linear   PRI 20-MAR-2023
DEFINITION  cilia- and flagella-associated protein 69 isoform X11 [Homo
            sapiens].
ACCESSION   XP_047276803
VERSION     XP_047276803.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420847.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..812
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..812
                     /product="cilia- and flagella-associated protein 69
                     isoform X11"
                     /calculated_mol_wt=91598
     CDS             1..812
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /coded_by="XM_047420847.1:342..2780"
                     /db_xref="GeneID:79846"
                     /db_xref="HGNC:HGNC:26107"
                     /db_xref="MIM:617949"
ORIGIN      
        1 mkipsselri qickcivdfy haeppkkhip gyqqasssyk iqmaevggla ktmvqsmtll
       61 enqlveklwv lkvlqhlsts evnctimmka qaasgicthl ndpdpsgqll frsseilwnl
      121 leksskeevi qqlsnlecll alkevfknlf mrgfshydrq lrndilvitt iiaqnpeapm
      181 iecgftkdli lfatfnevks qnllvkglkl snsyedfelk kllfnvivil ckdlptvqll
      241 idgkvilalf tyvkkpekqk iidwsaaqhe elqlhaiatl ssvaplliee ymscqgnarv
      301 laflewcese dpffshgnsf hgtggrgnkf aqmryslrll ravvyledet vnkdlcekgt
      361 iqqmigifkn iiskpnekee aivleiqsdi llilsglcen hiqrkeifgt egvdivlhvm
      421 ktdprklqsg lgynvllfst ldsiwccilg cypsedyfle kegifllldl lalnqkkfcn
      481 lilgimvefc dnpktaahvn awqgkkdqta aslliklwrk eekelgvkrd kngkiidtkk
      541 plftsfqeeq kiiplpancp siavmdvsen irakiyailg kldfenlpgl saedfvtlci
      601 ihryldfkig eiwneiyeei kleklrpvtt dkkaleaitt asenigkmva slqsdiiesq
      661 acqdmqneqk vyakiqathk qrelankswe dflartsnak tlkkakslqe kaieasryhk
      721 rpqnaifhqt hikglnttvp sggvvtvest parlvggplv dtdialkklp irggalqrvk
      781 avkivdapkk siptswlekm nvdihevark qr
//
LOCUS       XP_047278771             606 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat and immunoglobulin-like domain-containing nogo
            receptor-interacting protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047278771
VERSION     XP_047278771.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422815.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..606
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..606
                     /product="leucine-rich repeat and immunoglobulin-like
                     domain-containing nogo receptor-interacting protein 2
                     isoform X1"
                     /calculated_mol_wt=67935
     Region          27..60
                     /region_name="LRRNT"
                     /note="Leucine rich repeat N-terminal domain; smart00013"
                     /db_xref="CDD:214470"
     Region          39..57
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          59..82
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          60..117
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          83..106
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          106..165
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          107..130
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          131..154
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          154..210
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          155..178
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          179..202
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          200..>373
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          203..250
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          251..274
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          275..298
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          299..322
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          323..343
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          355..408
                     /region_name="LRRCT"
                     /note="Leucine rich repeat C-terminal domain; smart00082"
                     /db_xref="CDD:214507"
     Region          411..500
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          428..432
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          441..445
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          466..470
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          480..485
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          493..496
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..606
                     /gene="LINGO2"
                     /gene_synonym="LERN3; LRRN6C"
                     /coded_by="XM_047422815.1:746..2566"
                     /db_xref="GeneID:158038"
                     /db_xref="HGNC:HGNC:21207"
                     /db_xref="MIM:609793"
ORIGIN      
        1 mlhtaiscwq pflglavvli fmgstigcpa rcecsaqnks vschrrrlia ipegipietk
       61 ildlsknrlk svnpeefisy plleeidlsd niianvepga fnnlfnlrsl rlkgnrlklv
      121 plgvftglsn ltkldisenk ivilldymfq dlhnlkslev gdndlvyish rafsgllsle
      181 qltlekcnlt avptealshl rslislhlkh lninnmpvya fkrlfhlkhl eidywplldm
      241 mpanslygln ltslsvtntn lstvpflafk hlvylthlnl synpistiea gmfsdlirlq
      301 elhivgaqlr tiephsfqgl rflrvlnvsq nlletleenv fsspralevl sinnnplacd
      361 crllwilqrq ptlqfggqqp mcagpdtire rsfkdfhsta lsfyftckkp kirekklqhl
      421 lvdegqtvql ecsadgdpqp viswvtprrr fittksngra tvlgdgtlei rfaqdqdsgm
      481 yvciasnaag ndtftasltv kgfasdrfly anrtpmymtd sndtisngtn antfsldlkt
      541 ilvstamgcf tflgvvlfcf lllfvwsrgk gkhknsidle yvprknngav vegevagprr
      601 fnmkmi
//
LOCUS       XP_054187371            1143 aa            linear   PRI 20-MAR-2023
DEFINITION  large proline-rich protein BAG6 isoform X2 [Homo sapiens].
ACCESSION   XP_054187371
VERSION     XP_054187371.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054331396.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167249.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1143
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1143
                     /product="large proline-rich protein BAG6 isoform X2"
                     /calculated_mol_wt=120190
     CDS             1..1143
                     /gene="BAG6"
                     /gene_synonym="BAG-6; BAT3; D6S52E; G3"
                     /coded_by="XM_054331396.1:276..3707"
                     /db_xref="GeneID:7917"
                     /db_xref="HGNC:HGNC:13919"
                     /db_xref="MIM:142590"
ORIGIN      
        1 mepndststa veepdslevl vktldsqtrt fivgaqmnvk efkehiaasv sipsekqrli
       61 yqgrvlqddk klqeynvggk vihlverapp qthlpsgass gtgsasathg ggsppgtrgp
      121 gasvhdrnan syvmvgtfnl pseprvrlvm aqhmirdiqt llsrmecrgg pqpqhsqppp
      181 qppavtpepv alssqtsepv eseapprepm eaeeveerap aqnpeltpgp apagptpape
      241 tnapnhpspa eyvevlqelq rlesrlqpfl qryyevlgaa attdynnnhe greedqrlin
      301 lvgeslrllg ntfvalsdlr cnlactpprh lhvvrpmshy ttpmvlqqaa ipiqinvgtt
      361 vtmtgngtrp pptpnaeapp pgpgqassva psstnvessa egapppgpap ppatshprvi
      421 rishqsvepv vmmhmniqds gtqpggvpsa ptgplgppgh gqtlgstliq lpslppefmh
      481 avahqithqa mvaavasaaa gqqvpgfpta ptrvviarpt ppqarpshpg gppvsgtlga
      541 glgtnaslaq mvsglvgqll mqpvlvaqgt pgmapppapa tasasagttn tattagpapg
      601 gpaqppptpq psmadlqfsq llgnllgpag pgaggsgvas ptitvampgv paflqgmtdf
      661 lqatqtappp pppppppppa peqqtmpppg spsggagspg glgleslspe fftsvvqgvl
      721 ssllgslgar agssesiaaf iqrlsgssni fepgadgalg ffgallsllc qnfsmvdvvm
      781 llhghfqplq rlqpqlrsff hqhylggqep tpsnirmath tlitgleeyv resfslvqvq
      841 pgvdiirtnl eflqeqfnsi aahvlhctds gfgarllelc nqglfeclal nlhclggqqm
      901 elaavingri rrmsrgvnps lvswlttmmg lrlqvvlehm pvgpdailry vrrvgdppqp
      961 lpeepmevqg aeraspepqr enaspapgtt aeeamsrgpp papeggsrde qdgasaetep
     1021 waaavppewv piiqqdiqsq rkvkpqppls daylsgmpak rrktmqgegp qlllseavsr
     1081 aakaagarpl tspeslsrdl eapevqesyr qqlrsdiqkr lqedpnyspq rfpnaqrafa
     1141 ddp
//
LOCUS       XP_054190151             811 aa            linear   PRI 20-MAR-2023
DEFINITION  arf-GAP with coiled-coil, ANK repeat and PH domain-containing
            protein 3 isoform X5 [Homo sapiens].
ACCESSION   XP_054190151
VERSION     XP_054190151.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334176.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..811
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..811
                     /product="arf-GAP with coiled-coil, ANK repeat and PH
                     domain-containing protein 3 isoform X5"
                     /calculated_mol_wt=90415
     CDS             1..811
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /coded_by="XM_054334176.1:116..2551"
                     /db_xref="GeneID:116983"
                     /db_xref="HGNC:HGNC:16754"
ORIGIN      
        1 mtvefeecvk dsprfratid evetdvveie akldklvklc sgmveagkay vstsrlfvsg
       61 vrdlsqqcqg dtvisvrgrl tsdlkeclqr fadslqevvn yhmilfdqaq rsvrqqlqsf
      121 vkedvrkfke tkkqfdkvre dlelslvrna qaprhrphev eeatgaltlt rkcfrhlald
      181 yvlqinvlqa kkkfeildsm lsfmhaqssf fqqgysllhq ldpymkklaa eldqlvidsa
      241 vekremerkh aaiqqrtllq dfsydeskve fdvdapsgvv megylfkras nafktwnrrw
      301 fsiqnsqlvy qkklkdaltv vvddlrlcsv kpcedierrf cfevlsptks cmlqadsekl
      361 rqawvqavqa siasayresp dscyserldr taspstssid satdtrergv kgesvlqrvq
      421 svagnsqcgd cgqpdprwas inlgvllcie csgihrslgv hcskvrsltl dswepellkl
      481 mcelgnsavn qiyeaqcega gsrkptasss rqdkeawikd kyvekkflrk apmapaleap
      541 rrwrvqkclr phssprapta rrkvrlepvl pcvaalssvg tldrkfrrds lfcpdeldsl
      601 fsyfdagaag agprkgaese essgeadgdt eaeawgladv relhpgllah raarardlpa
      661 laaalahgae vnwadaedeg ktplvqavlg gslivcefll qngadvnqrd srgraplhha
      721 tllgrtgqvc lflkrgadqh aldqeqrdpl aiavqaanad ivtllrlarm aeemreaeaa
      781 pgppgalags ptelqfrrci qefislhlee s
//
LOCUS       XP_054192879             362 aa            linear   PRI 20-MAR-2023
DEFINITION  45 kDa calcium-binding protein isoform X1 [Homo sapiens].
ACCESSION   XP_054192879
VERSION     XP_054192879.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336904.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..362
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..362
                     /product="45 kDa calcium-binding protein isoform X1"
                     /calculated_mol_wt=41676
     CDS             1..362
                     /gene="SDF4"
                     /gene_synonym="Cab45; SDF-4"
                     /coded_by="XM_054336904.1:653..1741"
                     /db_xref="GeneID:51150"
                     /db_xref="HGNC:HGNC:24188"
                     /db_xref="MIM:614282"
ORIGIN      
        1 mvwpwvamas rwgpliglap cclwllgavl lmdasarpan hsstrervan reeneilppd
       61 hlngvklemd ghlnrgfhqe vflgkdlggf dedaeprrsr rklmvifskv dvntdrkisa
      121 kemqrwimek taehfqeame eskthfravd pdgdghvswd eykvkflask ghsekevada
      181 irlneelkvd eetqevlenl kdrwyqadsp padlllteee flsflhpehs rgmlrfmvke
      241 ivrdldqdgd kqlsvpefis lpvgtvenqq gqdiddnwvk drkkefeeli dsnhdgivta
      301 eelesymdpm neynalneak qmiavadenq nhhlepeevl kysefftgsk lvdyarsvhe
      361 ef
//
LOCUS       XP_054193849            1530 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor B2 isoform X11 [Homo sapiens].
ACCESSION   XP_054193849
VERSION     XP_054193849.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337874.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 5% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1530
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1530
                     /product="adhesion G protein-coupled receptor B2 isoform
                     X11"
                     /calculated_mol_wt=166552
     CDS             1..1530
                     /gene="ADGRB2"
                     /gene_synonym="BAI2"
                     /coded_by="XM_054337874.1:648..5240"
                     /db_xref="GeneID:576"
                     /db_xref="HGNC:HGNC:944"
                     /db_xref="MIM:602683"
ORIGIN      
        1 mentgwmgkg hrmtpacpll lsvilslrla tafdpapsac salasgvlyg afslqdlfpt
       61 iasgcswtle npdptkysly lrfnrqeqvc ahfaprllpl dhylvnftcl rpspeeavaq
      121 aesevgrpee eeaeaaagle lcsgsgpftf lhfdknfvql clsaepseap rllapaalaf
      181 rfvevllinn nnssqftcgv lcrwseecgr aagracgfaq pgcscpgeag agsttttspg
      241 ppaahtlsna lvpggpappa eadlhsgssn dlfttemryg eepeeepkvk tqwprsadep
      301 glymaqtgdp aaeewspwsv csltcgqglq vrtrscvssp ygtlcsgplr etrpcnnsat
      361 cpvegqwlew gpwgpcstsc angtqqrsrk csvagpawat ctgaltdtre csnlecpatd
      421 skwgpwnaws lcsktcdtgw qrrfrmcqat gtqgypcegt geevkpcsek rcpafhemcr
      481 deyvmlmtwk kaaageiiyn kcppnasgsa srrcllsaqg vaywglpsfa rcisheyryl
      541 ylslrehlak gqrmlagegm sqvvrslqel larrtyysgd llfsvdilrn vtdtfkraty
      601 vpsaddvqrf fqvvsfmvda enkekwddaq qvspgsvhll rvvedfihlv gdalkafqss
      661 livtdnlvis iqrepvsavs sditfpmrgr rgmkdwvrhs edrlflpkev lslsspgkpa
      721 tsgaagspgr grgpgtvppg pghshqrllp adpdessyfv igavlyrtlg lilppprppl
      781 avtsrvmtvt vrpptqppae plitvelsyi ingttdphca swdysradas sgdwdtencq
      841 tletqaahtr cqcqhlstfa vlaqppkdlt lelagspsvp lvigcavscm alltllaiya
      901 afwrfikser siillnfcls ilasnililv gqsrvlskgv ctmtaaflhf fflssfcwvl
      961 teawqsylav igrmrtrlvr krflclgwgl palvvavsvg ftrtkgygts sycwlslegg
     1021 llyafvgpaa vivlvnmlig iivfnklmar dgisdkskkq ragsercpwa slllpcsacg
     1081 avpspllssa sarnamaslw sscvvlplla ltwmsavlam tdrrsvlfqa lfavfnsaqg
     1141 fvitavhcfl rrevqdvvkc qmgvcrades edspdsckng qlqilsdfek dvdlacqtvl
     1201 fkevntcnps titgtlsrls ldedeepksc lvgpegslsf splpgnilvp maaspglgep
     1261 pppqeanpvy mcgegglrql dltwlrptep gsegdymvlp rrtlslqpgg gggggedapr
     1321 arpegtprra aktvahtegy psflsvdhsg lglgpaygsl qnpygmtfqp ppptpsarqv
     1381 pepgersrtm prtvpgstmk mgslerkklr ysdldfekvm htrkrhsely helnqkfhtf
     1441 dryrsqstak rekrwsvssg gaaersvctd kpspgerpsl sqhrrhqsws tfksmtlgsl
     1501 ppkprerltl hraaawepte ppdgdfqtev
//
LOCUS       XP_054194277             373 aa            linear   PRI 20-MAR-2023
DEFINITION  exonuclease V isoform X1 [Homo sapiens].
ACCESSION   XP_054194277
VERSION     XP_054194277.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338302.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..373
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..373
                     /product="exonuclease V isoform X1"
                     /calculated_mol_wt=41726
     CDS             1..373
                     /gene="EXO5"
                     /gene_synonym="C1orf176; DEM1; Exo V; hExo5"
                     /coded_by="XM_054338302.1:984..2105"
                     /db_xref="GeneID:64789"
                     /db_xref="HGNC:HGNC:26115"
                     /db_xref="MIM:618601"
ORIGIN      
        1 maetreeetv saeasgfsdl sdseflefld ledaqeskal vnmpgpsses lgkddkpisl
       61 qnwkrgldil spmerfhlky lyvtdlatqn wcelqtaygk elpgflapek aavlntgasi
      121 hlarelelhd lvtvpvttke dawaikflni llliptlqse ghirefpvfg evegvllvgv
      181 idelhytakg elelaelktr rrpmlpleaq kkkdcfqvsl ykyifdamvq gkvtpaslih
      241 htklclekpl gpsvlrhaqq ggfsvkslgd lmelvflslt lsdlpvidil kieyihqeta
      301 tvlgteivaf kekevrakvq hymaywmghr epqgvdveea wkcrtctyad icewrkgsgv
      361 lsstlapqvk kak
//
LOCUS       XP_047299573             511 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-amylase 1B [Homo sapiens].
ACCESSION   XP_047299573
VERSION     XP_047299573.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047443617.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..511
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..511
                     /product="alpha-amylase 1B"
                     /calculated_mol_wt=57637
     Region          25..416
                     /region_name="AmyAc_bac_euk_AmyA"
                     /note="Alpha amylase catalytic domain found in bacterial
                     and eukaryotic Alpha amylases (also called
                     1,4-alpha-D-glucan-4-glucanohydrolase); cd11317"
                     /db_xref="CDD:200456"
     Site            order(73..74,77..78,113,116,177..180,210,212..213,
                     215..216,248,250,255,314..315,320)
                     /site_type="active"
                     /db_xref="CDD:200456"
     Site            order(115,182)
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:200456"
     Site            order(212,248,315)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:200456"
     Region          422..510
                     /region_name="Aamy_C"
                     /note="Aamy_C domain; smart00632"
                     /db_xref="CDD:214749"
     CDS             1..511
                     /gene="LOC124905668"
                     /coded_by="XM_047443617.1:296..1831"
                     /db_xref="GeneID:124905668"
ORIGIN      
        1 mklfwllfti gfcwaqyssn tqqgrtsivh lfewrwvdia lecerylapk gfggvqvspp
       61 nenvaihnpf rpwweryqpv syklctrsgn edefrnmvtr cnnvgvriyv davinhmcgn
      121 avsagtsstc gsyfnpgsrd fpavpysgwd fndgkcktgs gdienyndat qvrdcrlsgl
      181 ldlalgkdyv rskiaeymnh lidigvagfr idaskhmwpg dikaildklh nlnsnwfpeg
      241 skpfiyqevi dlggepikss dyfgngrvte fkygaklgtv irkwngekms ylknwgegwg
      301 fmpsdralvf vdnhdnqrgh gaggasiltf wdarlykmav gfmlahpygf trvmssyrwp
      361 ryfengkdvn dwvgppndng vtkevtinpd ttcgndwvce hrwrqirnmv nfrnvvdgqp
      421 ftnwydngsn qvafgrgnrg fivfnnddwt fsltlqtglp agtycdvisg dkingnctgi
      481 kiyvsddgka hfsisnsaed pfiaihaesk l
//
LOCUS       XP_054225818            1069 aa            linear   PRI 20-MAR-2023
DEFINITION  myelin regulatory factor isoform X15 [Homo sapiens].
ACCESSION   XP_054225818
VERSION     XP_054225818.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369843.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1069
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1069
                     /product="myelin regulatory factor isoform X15"
                     /calculated_mol_wt=115680
     CDS             1..1069
                     /gene="MYRF"
                     /gene_synonym="11orf9; C11orf9; CUGS; MMERV; MRF; Ndt80;
                     pqn-47"
                     /coded_by="XM_054369843.1:110..3319"
                     /db_xref="GeneID:745"
                     /db_xref="HGNC:HGNC:1181"
                     /db_xref="MIM:608329"
ORIGIN      
        1 mevvdeteal qrffeghdin galepsnidt sileeyiske dasdlcfpdi sapassasys
       61 hgqpampgss gvhhlsppgg gpspgrhgpl pppgygtpln cnnnngmgaa pkpfpggtgp
      121 pikaepkapy apgtlpdspp dsgseayspq qrdlymkaep piphyaamgq glvptdlhht
      181 qqsqmlhqll qqhgaelpth pskkrkhses ppstlnaqml ngmikqepgt vtalplhptr
      241 apsppwppqg plspgpgslp lsiarvqtpp whppgapspg llqdsdslsg syldpnyqsi
      301 kwqphqqnkw atlydanyke lpmltyrvda dkgfnfsvgd dafvcqkknh fqvtvyigml
      361 gepkyvktpe glkpldcfyl klhgvkleal nqsinieqsq sdrskrpfnp vtvnlppeqv
      421 tkvtvgrlhf settannmrk kgkpnpdqry fmlvvalqah aqnqnytlaa qiseriivra
      481 snpgqfesds dvlwqraqvp dtvfhhgrvg intdrpdeal vvhgnvkvmg slmhpsdlra
      541 kehvqevdtt eqlkrisrmr lvhyrykpef aasagieata petgviaqev keilpeavkd
      601 tgdmvfangk tienflvvnk erifmenvga vkelckltdn letrideler wshklaklrr
      661 ldslkstgss gafshagsqf sragsvphkk rppkvaskss svvpdqacis qrflqgtiia
      721 lvvvmafsvv smstlyvlsl rteedlvdtd grssqsfgtt qlrqsplttg lpgiqpslll
      781 vttsltssap gsavrtldmc sshpcpvicc sspttnpttg pslgpsfnpg hvlspspsps
      841 tnrsgpsqma llpvtnirak swglsvngig hskhhkslep laspavpfpg gqgkaknsps
      901 lgfhgrarrg alqssvgpae ptwaqgqsep vpsltsiqvl ensmsitsqy capgdacrpg
      961 nftyhipvss gtplhlsltl qmnssspvsv vlcslrskee pceegslpqs lhthqdtqgt
     1021 shrwpitils freftyhfrv allgqancss ealaqpatdy hfhfyrlcd
//
LOCUS       XP_054226598            2061 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 32 isoform X2 [Homo sapiens].
ACCESSION   XP_054226598
VERSION     XP_054226598.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370623.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2061
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2061
                     /product="rho GTPase-activating protein 32 isoform X2"
                     /calculated_mol_wt=227160
     CDS             1..2061
                     /gene="ARHGAP32"
                     /gene_synonym="GC-GAP; GRIT; p200RhoGAP; p250GAP; PX-RICS;
                     RICS"
                     /coded_by="XM_054370623.1:130..6315"
                     /db_xref="GeneID:9743"
                     /db_xref="HGNC:HGNC:17399"
                     /db_xref="MIM:608541"
ORIGIN      
        1 mkssvhseed dfvpelhrnv hprerpdwee tlsamargad vpeipgdltl ktcgstasmk
       61 vkhvkksttp glmgcdnihr lpftkghfpk maecahfhye nvefgsiqls lseeqnevmk
      121 ngceskelvy lvqiacqgks wivkrsyedf rvldkhlhlc iydrrfsqls elprsdtlkd
      181 spesvtqmlm aylsrlsaia gnkincgpal twmeidnkgn hllvheessi ntpavgaahv
      241 ikrytarapd eltlevgdiv svidmppkvl stwwrgkhgf qvglfpghcv elinqkvpqs
      301 vtnsvpkpvs kkhgklitfl rtfmksrptk qklkqrgilk ervfgcdlge hllnsgfevp
      361 qvlqsctafi erygivdgiy rlsgvasniq rlrhefdseh vpdltkepyv qdihsvgslc
      421 klyfrelpnp lltyqlyekf sdavsaatde erlikihdvi qqlppphyrt leflmrhlsl
      481 ladycsitnm haknlaivwa pnllrskqie sacfsgtaaf mevriqsvvv efilnhvdvl
      541 fsgrismamq egaaslsrpk sllvsspstk lltleeaqar tqaqvnspiv tenkyievge
      601 gpaalqgkfh tiiefplerk rpqnkmkksp vgswrsffnl gksssvskrk lqrnesepse
      661 mkamalkggr aegtlrsaks eesltslhav dgdsklfrpr rprsssdals asfngemlgn
      721 rcnsydnlph dneseeeggl lhipalmsph saedvdlspp digvasldfd pmsfqcsppk
      781 aeseclesga sfldspgysk dkpsankkda etgssqcqtp gstassepvs plqeklspff
      841 tldlsptedk sskpssftek vvyafspkig rklskspsms isepisvtlp prvsevigtv
      901 snttaqnass stwdkcveer datnrsptqi vkmktnetva qeayesevqp ldqvaaeeve
      961 lpgkedqsvs ssqskavasg qtqtgavthd ppqdsvpvss vslipppppp knvarmlala
     1021 laesaqqast qslkrpgtsq agytnygdia vattednlss sysavaldka yfqtdrpaeq
     1081 fhlqnnapgn cdhplpetta tgdpthsntt esgeqhhqvd ltgnqphqay lsgdpekari
     1141 tsvpldseks ddhvsfpedq sgknsmptvs fldqdqsppr fysgdqppsy lgasvdklhh
     1201 plefadkspt ppnlpsdkiy ppsgspeent statmtymtt tpataqmstk easwdvaeqp
     1261 ttadfaaatl qrthrtnrpl ppppsqrsae qppvvgqvqa atniglnnsh kvqgvvpvpe
     1321 rppepramdd pasafisdsg aaaaqcpmat avqpglpekv rdgarvpllh lraesvpahp
     1381 cgfpaplppt rmmeskmiaa ihsssadats ssnyhsfvta sstsvddalp lplpvpqpkh
     1441 asqktvyssf arpdvttepf gpdnclhfnm tpncqyrpqs vpphhnkleq hqvygarsep
     1501 pasmglrynt yvapgrnasg hhskpcsrve yvsslsssvr ntcypedipp yptirrvqsl
     1561 happssmirs vpisrtevpp ddepaycprp lyqykpyqss qarsdyhvtq lqpyfengrv
     1621 hyryspysss sssyyspdga lcdvdaygtv qlrplhrlpn rdfafynprl qgkslysyag
     1681 laprpranvt gyfspndhnv vsmppaadvk htytswdled mekyrmqsir resrarqkvk
     1741 gpvmsqydnm tpavqddlgg iyvihlrsks dpgktgllsv aegkesrhaa kaispegedr
     1801 fyrrhpeaem drahhhgghg stqpekpslp qkqsslrsrk lpdmgcslpe hrahqeashr
     1861 qfceskngpp ypqgagqldy gskgipdtse pvsyhnsgvk yaasgqeslr lnhkevrlsk
     1921 emerpwvrqp sapekhsrdc ykeeehltqs ivpppkpers hslklhhtqn verdpsvlyq
     1981 yqphgkrqss vtvvsqydnl edyhslpqhq rgvfggggmg tyvppgfphp qsrtyatalg
     2041 qgaflpaels lqhpetqiha e
//
LOCUS       XP_054229084             267 aa            linear   PRI 20-MAR-2023
DEFINITION  G/T mismatch-specific thymine DNA glycosylase isoform X2 [Homo
            sapiens].
ACCESSION   XP_054229084
VERSION     XP_054229084.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373109.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..267
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..267
                     /product="G/T mismatch-specific thymine DNA glycosylase
                     isoform X2"
                     /calculated_mol_wt=30020
     CDS             1..267
                     /gene="TDG"
                     /gene_synonym="hTDG"
                     /coded_by="XM_054373109.1:236..1039"
                     /db_xref="GeneID:6996"
                     /db_xref="HGNC:HGNC:11700"
                     /db_xref="MIM:601423"
ORIGIN      
        1 maaykghhyp gpgnhfwkcl fmsglsevql nhmddhtlpg kygigftnmv erttpgskdl
       61 sskefreggr ilvqklqkyq priavfngkc iyeifskevf gvkvknlefg lqphkipdte
      121 tlcyvmpsss arcaqfpraq dkvhyyiklk dlrdqlkgie rnmdvqevqy tfdlqlaqed
      181 akkmavkeek ydpgyeaayg gaygenpcss epcgfssngl iesvelrges afsgipngqw
      241 mtqsftdqip sfsnhcgtqe qeeesha
//
LOCUS       XP_047302464             648 aa            linear   PRI 20-MAR-2023
DEFINITION  putative golgin subfamily A member 8D isoform X3 [Homo sapiens].
ACCESSION   XP_047302464
VERSION     XP_047302464.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047446508.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..648
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..648
                     /product="putative golgin subfamily A member 8D isoform
                     X3"
                     /calculated_mol_wt=72882
     CDS             1..648
                     /gene="LOC124907502"
                     /coded_by="XM_047446508.1:40..1986"
                     /db_xref="GeneID:124907502"
ORIGIN      
        1 mwpqarlpph pamaeetrqs klaaakrklk eywqrnspgv pagakrnrkt ngsihetats
       61 ggchspgdsa tgihgespts satlkdlesp cqelavvpds rsvkvsqlkn tikslkqqkk
      121 qvehqleeek kannekqkae relevqiqrl niqkgklntd lyhtkrslry feeeskdlav
      181 rlqhslqrkg eleralsavt atqkkkaerq fssrskarte wkleqsmreq allkaqltql
      241 keslkevqle rdeyaehlkg erarwqqrmr kmsqevcslk kekkhdkyrv eklerslskl
      301 knqmaeplpp eppavpseve lqhlrkeler vagalqaqve ynqrisllne gqkerlreqe
      361 erlqeqqerl peqeerlqql aepqnsfkel nnenksvlql eqqvkelqek lgkerleaas
      421 qqkqqltaql slmalpgegh ggehldsege eaprpmptvp edlesreams gfmdhleeka
      481 dlselvekee lgffqyyrer chqkvyhpit kpggsakdaa pggghhqagp gqggdegeaa
      541 gaagdgvaag gdykghskfl vtaqnpahep spgapapqel gaahkhgdlc evsltdsvep
      601 vqvearegsp hdnptaqpiv qdhqehpglg snccvpffcw awlprrrr
//
LOCUS       XP_054172324            3531 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-XV isoform X5 [Homo sapiens].
ACCESSION   XP_054172324
VERSION     XP_054172324.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316349.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3531
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3531
                     /product="unconventional myosin-XV isoform X5"
                     /calculated_mol_wt=395315
     CDS             1..3531
                     /gene="MYO15A"
                     /gene_synonym="DFNB3; MYO15"
                     /coded_by="XM_054316349.1:383..10978"
                     /db_xref="GeneID:51168"
                     /db_xref="HGNC:HGNC:7594"
                     /db_xref="MIM:602666"
ORIGIN      
        1 makeedeekk akkgkkgkka pepekpkrsl kgtsrlfmgf rdrtpkiskk gqfrsasaff
       61 wglhtgpqkt krkrkartvl kstsklmtqm rmgkkkramk gkkpsfmvir fpgrrgygrl
      121 rprarslska stainwltkk fllkkaeesg seqatvdawl qrsssrmgsr klpfpsgaei
      181 lrpggrlrrf prsrsiyasg eplgflpfed eapfhhsgsr kslyglegfq dlgeyydyhr
      241 dgddyydrqs lhryeeqepy laglgpyspa wppygdhyyg yppedpydyy hpdyyggpfd
      301 pgytygygyd dyeppyapps gysspysyhd gyegeahpyg yyldpyapyd apyppydlpy
      361 htpydvpyfd pygvhytvpy aegvygggde aiyppevpyf ypeesasafv ypwvpppips
      421 phnpyahamd diaeleeped agverqgtsf rlpsaaffeq qgmdkparsk lslirkfrlf
      481 prpqvklfgk eklevplpps ldiplplgda deeedeeelp pvsavpyghp fwgfltprqr
      541 nlqralsafg ahrglgfgpe fgrpvprpat slarflkktl sekkpiarlr gsqktraggp
      601 avreaaykrf gyklagmdpe kpgtpivlrr aqprarssnd arrppapqpa prtlshwsal
      661 lsppvpprpp ssgpppappl spalsglprp aspygslrrh pppwaapahv ppapqaswwa
      721 fveppavspe vppdllafpg prpsfrgsrr rgaafgfpga sprasrrraw splaspqpsl
      781 rsspglgycs plappspqls lrtgpfqppf lpparrprsl pespaprraa grlgppgspl
      841 pgsprppspp lglchsprrs slnlpsrlph twrrlseppt ravkpqvrlp fhrppragaw
      901 raplehresp repedsetpw tvpplapswd vdmpptqrpp spwpggagsr rgfsrpppvp
      961 enpflqllgp vpsptlqped paadmtrvfl grhhepgpgq ltksagptpe kpeeeatlgd
     1021 pqlpaetkpp tpappkdvtp pkditppkdv lpeqktlrps lsyplaacdq tratwppwhr
     1081 wgtlpqaaap lapirapepl pkggerrqaa pgrfavvmpr vqklssfqrv gpatlkpqvq
     1141 piqdpkprac slrwsclwlr adaygpwprv hthpqschlg pgaaclslrg sweevgppsw
     1201 rnkmhsirnl psmrfreqhg edgvedmtql edlqettvls nlkirfernl iytyigsilv
     1261 svnpyqmfgi ygpeqvqqyn gralgenpph lfavanlafa kmldakqnqc iiisgesgsg
     1321 kteatklilr ylaamnqkre vmqqviqile atpllesfgn aktvrndnss rfgkfveifl
     1381 eggvisgait sqylleksri vfqaknerny hifyellagl paqlrqafsl qeaetyyyln
     1441 qggnceiagk sdaddfrrll aamevlgfss edqdsifril asilhlgnvy fekyetdaqe
     1501 vasvvsarei qavaellqis peglqkaitf kvtetmreki ftpltvesav dardaiakvl
     1561 yallfswlit rvnalvsprq dtlsiaildi ygfedlsfns feqlcinyan enlqylfnki
     1621 vfqeeqeeyi reqidwqeit fadnqpcinl islkpygilr ilddqccfpq atdhtflqkc
     1681 hyhhganply skpkmplpef tikhyagkvt yqvhkfldkn hdqvrqdvld lfvrsrtrvv
     1741 ahlfsshapq aapqrlgkss svtrlykaht vaakfqqsll dlvekmercn plfmrclkpn
     1801 hkkepglfep dvvmaqlrys gvletvrirk egfpvrlpfq gfidrycclv alkhdlpang
     1861 dmcvsvlsrl ckvmpnmyrv gvsklflkeh lyqllesmre hvlnlaaltl qrclrgffik
     1921 rrfrslrhki illqsrargy larqryqqmr rslvkfrslv hayvsrrryl klraewrrqv
     1981 egallweqee lskrevvavg hlevpaelag llqavaglgl aqvpqvapvr tprlqaeprv
     2041 tlpldinnyp makfvqchfk epafgmltvp lrtpltqlpa ehhaeavsif klilrfmgdp
     2101 hlhgarenif gnyivqkgla vpelrdeila qlanqvwhnh nahnaergwl llaaclsgfa
     2161 pspcfnkyll kfvsdygrng fqavcqhrlm qamgraqqqg sgaartlppt qlewtatyek
     2221 asmaldvgcf ngdqfscpvh swstgeevag dilrhrglad gwrgwtvamk ngvqwaelag
     2281 hdyvldlvsd lellrdfprq ksyfivgteg paasrggpkv vfgnswdsde dmstrpqpqe
     2341 hmpkvldsdg ysshnqdgtn geteaqrgta thqesdslge pavphkgldc yldslfdpvl
     2401 sygdadlekp taiayrmkgg gqpgggsssg tedtprrppe pkpipgldas tlalqqafih
     2461 kqavllarem tlqatalqqq plsaalrslp aekppapeaq ptsvgtgppa kpvllratpk
     2521 plapaplaka prlpikpvaa pvlaqdqasp ettspspelv rystlnsehf pqptqqikni
     2581 vrqyqqpfrg grpealrkdg gkvfmkrpdp heealmilkg qmthlaaapg tqvsreaval
     2641 vkpvtsaprp smaptsalps rsleppeelt qtrlhrlinp nfygyqdapw kiflrkevfy
     2701 pkdsyshpvq ldllfrqilh dtlseaclri sederlrmka lfaqnqldtq kplvtesvkr
     2761 avvstardtw evyfsrifpa tgsvgtgvql lavshvgikl lrmvkggqea ggqlrvlray
     2821 sfadilfvtm psqnmlefnl asekvilfsa rahqvktlvd dfilelkkds dyvvavrnfl
     2881 pedpallafh kgdiihlqpl epprvgysag cvvrrkvvyl eelrrrgpdf gwrfgtihgr
     2941 vgrfpselvq paaapdflql ptepgrgraa avaaavasaa aaqevgrrre gppvrarsad
     3001 hgedalalpp ytmlefaqky frdpqrrpqd glrlkskepr esrtledmlc ftktplqesl
     3061 ielsdsslsk matdmflavm rfmgdaplkg qsdldvlcnl lklcgdhevm rdecycqvvk
     3121 qitdntsskq dscqrgwrll yivtayhscs evlhphltrf lqdvsrtpgl pfqgiakace
     3181 qnlqktlrfg grlelpssie lramlagrss krqlfllpgg lerhlkiktc tvaldvveei
     3241 caemaltrpe afneyvifvv tnrgqhvcpl srrayildva semeqvdggy mlwfrrvlwd
     3301 qplkfenely vtmhynqvlp dylkglfssv pasrpseqll qqvsklaslq hrakdhfylp
     3361 svrevqeyip aqlyrttags twlnlvsqhr qqtqalsphq araqflglls alpmfgssff
     3421 fiqscsniav papcilainh nglnflstet helmvkfplk eiqstrtqrp tanssypyve
     3481 ialgdvaaqr tlqlqleqgl elcrvvavhv enllsahekr ltlppseitl l
//
LOCUS       XP_054176798             566 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 181 isoform X4 [Homo sapiens].
ACCESSION   XP_054176798
VERSION     XP_054176798.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320823.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..566
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..566
                     /product="zinc finger protein 181 isoform X4"
                     /calculated_mol_wt=65172
     CDS             1..566
                     /gene="ZNF181"
                     /gene_synonym="HHZ181"
                     /coded_by="XM_054320823.1:1126..2826"
                     /db_xref="GeneID:339318"
                     /db_xref="HGNC:HGNC:12971"
                     /db_xref="MIM:606741"
ORIGIN      
        1 mpqvtfndva idftheewgw lssaqrdlyk dvmvqnyenl vsvglsvtkp yvitlledgk
       61 epwmmekkls kdwesrwenk elstkkdnyd edspqtviie kvvkqsyefs nskknleyie
      121 klegkhgsqv dhfrpailts resptadsvy kynifrstfh skstlsepqk isaegnshky
      181 dilkknlpkk sviknekvng gkkllnsnks gaafsqgksl tlpqtcnrek iytcsecgka
      241 fgkqsilnrh wrihtgekpy ecrecgktfs hgssltrhli shsgekpykc iecgkafshv
      301 ssltnhqsth tgekpyecmn cgksfsrvsh liehlrihtq eklyecricg kafihrssli
      361 hhqkihtgek pyecrecgka fccsshltrh qrihtmekqy ecnkclkvfs slsflvqhqs
      421 ihteekpfec qkcrksfnql eslnmhlrnh irlkpyecsi cgkafshrss llqhhrihtg
      481 ekpyecikcg ktfscssnlt vhqrihtgek pykcnecgka fskgsnltah qrvhngekpn
      541 svvsvekpld ymnhytceks ysretv
//
LOCUS       XP_054197035            1186 aa            linear   PRI 20-MAR-2023
DEFINITION  myelin transcription factor 1-like protein isoform X6 [Homo
            sapiens].
ACCESSION   XP_054197035
VERSION     XP_054197035.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341060.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1186
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1186
                     /product="myelin transcription factor 1-like protein
                     isoform X6"
                     /calculated_mol_wt=132928
     CDS             1..1186
                     /gene="MYT1L"
                     /gene_synonym="MRD39; myT1-L; NZF1; ZC2H2C2; ZC2HC4B"
                     /coded_by="XM_054341060.1:830..4390"
                     /db_xref="GeneID:23040"
                     /db_xref="HGNC:HGNC:7623"
                     /db_xref="MIM:613084"
ORIGIN      
        1 mevdteekrh rtrskgvrvp vepaiqelfs cptpgcdgsg hvsgkyarhr svygcplakk
       61 rktqdkqpqe papkrkpfav kadsssvdec ddsdgtedmd ekeedegeey sedndepgde
      121 deedeegdre eeeeieeede dddedgedve deeeeeeeee eeeeeeened hqmnchntri
      181 mqdtekddnn ndeydnydel vaksllnlgk iaedaayrar tesemnsnts nsleddsdkn
      241 enlgrksels ldldsdvvre tvdslkllaq ghgvvlsenm ndrnyadsms qqdsrnmnyv
      301 mlgkpmnngl mekmveesde evclsslecl rnqcfdlark lsetnpqern pqqnmnirqh
      361 vrpeedfpgr tpdrnysdml nlmrleeqls prsrvfasca kedgcherdd dttsvnsdrs
      421 eevfdmtkgn ltllekaial eterakamre kmameagrrd nmrsyedqsp rqlpgedrkp
      481 kssdshvkkp yydpsrtekk eskcptpgcd gtghvtglyp hhrslsgcph kdrvppeila
      541 mhesvlkcpt pgctgrghvn snrnshrsls gcpiaaaekl akaqekhqsc dvskssqasd
      601 rvlrpmcfvk qleipqygyr nnvptttprs nlakelekys ktsfeynsyd nhtygkraia
      661 pkvqtrdisp kgyddakryc kdpspsssst ssyapssssn lscgggssas stcskssfdy
      721 thdmeaahma atailnlstr crempqnlst kpqdlcatrn pdmevdengt ldlsmnkqrp
      781 rdsccpiltp lepmspqqqa vmnnrcfqlg egdcwdlpvd ytkmkprrid edeskditpe
      841 dldpfqeale errypgevti pspkpkypqc keskkdlitl sgcpladksi rsmlatssqe
      901 lkcptpgcdg sghitgnyas hrslsgcpra kksgiriaqs kedkedqepi rcpvpgcdgq
      961 ghitgkyash rsasgcplaa krqkdgylng sqfswksvkt egmscptpgc dgsghvsgsf
     1021 lthrslsgcp ratsamkkak lsgeqmltik qrasngiend eeikqldeei kelnesnsqm
     1081 eadmiklrtq vtittmesnl ktieeenkvi eqqnesllhe lanlsqslih slaniqlphm
     1141 dpineqnfda yvttltemyt nqdryqspen kallenikqa vrgiqv
//
LOCUS       XP_054182193            1022 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform
            X18 [Homo sapiens].
ACCESSION   XP_054182193
VERSION     XP_054182193.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326218.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1022
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1022
                     /product="serine/threonine-protein phosphatase 6
                     regulatory subunit 2 isoform X18"
                     /calculated_mol_wt=110970
     CDS             1..1022
                     /gene="PPP6R2"
                     /gene_synonym="KIAA0685; PP6R2; SAP190; SAPS2"
                     /coded_by="XM_054326218.1:2021..5089"
                     /db_xref="GeneID:9701"
                     /db_xref="HGNC:HGNC:19253"
                     /db_xref="MIM:610877"
ORIGIN      
        1 mssvhsgqkt slthgrdtwa hspnrtteqa ralrgmsstl mdfqdlglvl lrvdlqssaa
       61 vtmfwkfdln ttshvdklld kehvtlqelm deddilqeck aqnqklldfl crqqcmeelv
      121 slitqdppld meekvrfkyp ntacelltcd vpqisdrlgg desllsllyd fldhepplnp
      181 llasffskti gnliarkteq vitflkkkdk fislvlkhig tsalmdlllr lvscvepagl
      241 rqdvlhwlne ekviqrlvel ihpsqdedrq snasqtlcdi vrlgrdqgsq lqealepdpl
      301 ltalesrqdc veqllknmfd gdrtesclvs gtqvlltlle trrvgteglv dsfsqglers
      361 yavsssvlhg ieprlkdfhq lllnppkkka ilttigvlee plgnarlhga rlmaallhtn
      421 tpsinqelcr lntmdllldl ffkytwnnfl hfqvelciaa ilshaareer teasgsesrv
      481 epphengnrs letpqpaasl pdntmvthlf qkcclvqril eaweandhtq aaggmrrgnm
      541 ghltrianav vqnlergpvq thisevirgl padcrgrwes fveetltetn rrntvdlvst
      601 hhlhsssede diegafpnel slqqafsdyq iqqmtanfvd qfgfndeefa dqddninapf
      661 driaeinfni dadedspsaa lfeaccsdri qpfdddeded iwedsdtrca arvmarprfg
      721 aphasescsk ngperggqdg kasleahrda pgagappapg kkeappvegd segamwtavf
      781 depanstpta pgvvkdvgss vwaagtsape ekgwakftdf qpfccsesgp rcsspvdtec
      841 shaegsrsqg pekafspasp cawnvcvtrk apllasdsss sggshsedgd qkaasamdav
      901 srgpgreapp lptvarteea vgrvgcadsr llspacpapk evtaapavav ppeatvaitt
      961 alskagpaip tpavssalav avplgpimav taapamvatl gtvtkdgktd appegaalng
     1021 pv
//
LOCUS       XP_054209715             651 aa            linear   PRI 20-MAR-2023
DEFINITION  disintegrin and metalloproteinase domain-containing protein 19
            isoform X2 [Homo sapiens].
ACCESSION   XP_054209715
VERSION     XP_054209715.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353740.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..651
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..651
                     /product="disintegrin and metalloproteinase
                     domain-containing protein 19 isoform X2"
                     /calculated_mol_wt=70096
     CDS             1..651
                     /gene="ADAM19"
                     /gene_synonym="FKSG34; MADDAM; MLTNB"
                     /coded_by="XM_054353740.1:1685..3640"
                     /db_xref="GeneID:8728"
                     /db_xref="HGNC:HGNC:197"
                     /db_xref="MIM:603640"
ORIGIN      
        1 mcevsenpys tlwsflswrr kllaqkyhdn aqlitgmsfh gttiglaplm amcsvyqsgg
       61 vnmdhsenai gvaatmahem ghnfgmthds adccsasaad ggcimaaatg hpfpkvfngc
      121 nrreldrylq sgggmclsnm pdtrmlyggr rcgngyledg eecdcgeeee cnnpccnasn
      181 ctlrpgaeca hgscchqckl lapgtlcreq arqcdlpefc tgksphcptn fyqmdgtpce
      241 ggqaycyngm cltyqeqcqq lwgpgarpap dlcfekvnva gdtfgncgkd mngehrkcnm
      301 rdakcgkiqc qssearples navpidttii mngrqiqcrg thvyrgpeee gdmldpglvm
      361 tgtkcgynhi cfegqcrnts ffetegcgkk cnghgvcnnn qnchclpgwa ppfcntpghg
      421 gsidsgpmpp esvgpvvagv lvailvlavl mlmyyccrqn nklgqlkpsa lpsklrqqfs
      481 cpfrvsqnsg tghanptfkl qtpqgkrkvi ntpeilrkps qppprpppdy lrggsppapl
      541 pahlsraarn spgpgsqier tessrrppps rpippapnci vsqdfsrprp pqkalpanpv
      601 pgrrslprpg gasplrppga gpqqsrplaa lapkfpeyrs qraggmissk i
//
LOCUS       XP_054209817             474 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF14 isoform X1 [Homo sapiens].
ACCESSION   XP_054209817
VERSION     XP_054209817.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353842.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..474
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..474
                     /product="E3 ubiquitin-protein ligase RNF14 isoform X1"
                     /calculated_mol_wt=53707
     CDS             1..474
                     /gene="RNF14"
                     /gene_synonym="ARA54; HFB30; HRIHFB2038; TRIAD2"
                     /coded_by="XM_054353842.1:302..1726"
                     /db_xref="GeneID:9604"
                     /db_xref="HGNC:HGNC:10058"
                     /db_xref="MIM:605675"
ORIGIN      
        1 mssedreaqe dellalasiy dgdefrkaes vqggetriyl dlpqnfkifv sgnsneclqn
       61 sgfeyticfl pplvlnfelp pdypssspps ftlsgkwlsp tqlsalckhl dnlweehrgs
      121 vvlfawmqfl keetlaylni vspfelkigs qkkvqrrtaq aspnteldfg gaagsdvdqe
      181 eivderavqd veslsnliqe ildfdqaqqi kcfnsklflc sicfceklgs ecmyflecrh
      241 vyckaclkdy feiqirdgqv qclncpepkc psvatpgqvk elveaelfar ydrlllqssl
      301 dlmadvvycp rpccqlpvmq epgctmgics scnfafctlc rltyhgvspc kvtaeklmdl
      361 rneylqadea nkrlldqryg krviqkalee meskewlekn skscpccgtp iekldgcnkm
      421 tctgcmqyfc wicmgslsra npykhfndpg spcfnrlfya vdvdddiwed eved
//
LOCUS       XP_054183355             334 aa            linear   PRI 20-MAR-2023
DEFINITION  OTU domain-containing protein 5 isoform X8 [Homo sapiens].
ACCESSION   XP_054183355
VERSION     XP_054183355.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327380.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..334
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..334
                     /product="OTU domain-containing protein 5 isoform X8"
                     /calculated_mol_wt=37227
     CDS             1..334
                     /gene="OTUD5"
                     /gene_synonym="DUBA; MCAND"
                     /coded_by="XM_054327380.1:188..1192"
                     /db_xref="GeneID:55593"
                     /db_xref="HGNC:HGNC:25402"
                     /db_xref="MIM:300713"
ORIGIN      
        1 mhevvrkhcm dylmknadyf snyvtedftt yinrkrknnc hgnhiemqam aemynrpvev
       61 yqystgtsav epintfhgih qnedepirvs yhrnihynsv vnpnkatigv glglpsfkpg
      121 faeqslmkna iktseeswie qqmledkkra tdweatneai eeqvaresyl qwlrdqekqa
      181 rqvrgpsqpr kasatcssat aaassgleew tsrsprqrss asspehpelh aelgmkppsp
      241 gtvlalakpp spcapgtssq fsagadrats plvslypale craliqqmsp safaglndwd
      301 ddeilasvla vsqqeyldsm kknkvhrdpp pdks
//
LOCUS       NP_037519                 63 aa            linear   PRI 24-DEC-2022
DEFINITION  cytochrome b-c1 complex subunit 9 isoform a [Homo sapiens].
ACCESSION   NP_037519
VERSION     NP_037519.2
DBSOURCE    REFSEQ: accession NM_013387.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 63)
  AUTHORS   Makarewich CA, Munir AZ, Bezprozvannaya S, Gibson AM, Young Kim S,
            Martin-Sandoval MS, Mathews TP, Szweda LI, Bassel-Duby R and Olson
            EN.
  TITLE     The cardiac-enriched microprotein mitolamban regulates
            mitochondrial respiratory complex assembly and function in mice
  JOURNAL   Proc Natl Acad Sci U S A 119 (6) (2022)
   PUBMED   35101990
REFERENCE   2  (residues 1 to 63)
  AUTHORS   Guo R, Zong S, Wu M, Gu J and Yang M.
  TITLE     Architecture of Human Mitochondrial Respiratory Megacomplex
            I2III2IV2
  JOURNAL   Cell 170 (6), 1247-1257 (2017)
   PUBMED   28844695
REFERENCE   3  (residues 1 to 63)
  AUTHORS   Olsen TK, Panagopoulos I, Gorunova L, Micci F, Andersen K, Kilen
            Andersen H, Meling TR, Due-Tonnessen B, Scheie D, Heim S and
            Brandal P.
  TITLE     Novel fusion genes and chimeric transcripts in ependymal tumors
  JOURNAL   Genes Chromosomes Cancer 55 (12), 944-953 (2016)
   PUBMED   27401149
  REMARK    GeneRIF: Reciprocal fusion gene involving UQCR10 and C1orf194 is
            associated with spinal ependymoma.
REFERENCE   4  (residues 1 to 63)
  AUTHORS   Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ,
            Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher
            JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR and Mootha VK.
  TITLE     Molecular diagnosis of infantile mitochondrial disease with
            targeted next-generation sequencing
  JOURNAL   Sci Transl Med 4 (118), 118ra10 (2012)
   PUBMED   22277967
  REMARK    GeneRIF: Strong candidate gene for mitochondrial disease, based on
            recessive mutations detected in infantile patients
REFERENCE   5  (residues 1 to 63)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 63)
  AUTHORS   Guzy RD, Hoyos B, Robin E, Chen H, Liu L, Mansfield KD, Simon MC,
            Hammerling U and Schumacker PT.
  TITLE     Mitochondrial complex III is required for hypoxia-induced ROS
            production and cellular oxygen sensing
  JOURNAL   Cell Metab 1 (6), 401-408 (2005)
   PUBMED   16054089
  REMARK    GeneRIF: Functionality of complex III of the mitochondrial electron
            transport chain is required for the hypoxic stabilization of HIF-1
            alpha and HIF-2 alpha
REFERENCE   7  (residues 1 to 63)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Behal A, Touchman JW, Bouffard G,
            Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and
            splice variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 63)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   9  (residues 1 to 63)
  AUTHORS   Schagger H, Brandt U, Gencic S and von Jagow G.
  TITLE     Ubiquinol-cytochrome-c reductase from human and bovine mitochondria
  JOURNAL   Methods Enzymol 260, 82-96 (1995)
   PUBMED   8592474
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB999839.1, BI754905.1 and CA311834.1.
            On Jan 25, 2004 this sequence version replaced NP_037519.1.
            
            Summary: UCRC is a subunit of mitochondrial complex III
            (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the
            middle segment of the respiratory chain of the inner mitochondrial
            membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by
            OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) encodes the longer and
            predominant isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.194147.1,
                                           SRR5189655.7688.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000330029.6/
                                                  ENSP00000332887.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..63
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..63
                     /product="cytochrome b-c1 complex subunit 9 isoform a"
                     /note="ubiquinol-cytochrome c reductase, complex III
                     subunit X, 7.2kDa; ubiquinol-cytochrome c reductase
                     complex (7.2 kD); cytochrome b-c1 complex subunit 9;
                     cytochrome C1, nonheme 7kDa protein; cytochrome c1
                     non-heme 7 kDa protein; ubiquinol-cytochrome c reductase
                     complex 7.2 kDa protein"
                     /calculated_mol_wt=7177
     Region          8..60
                     /region_name="UCR_UQCRX_QCR9"
                     /note="Ubiquinol-cytochrome C reductase, UQCRX/QCR9 like;
                     pfam05365"
                     /db_xref="CDD:428443"
     Site            22..47
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UDW1.3)"
     CDS             1..63
                     /gene="UQCR10"
                     /gene_synonym="HSPC051; HSPC119; HSPC151; QCR9; UCCR7.2;
                     UCRC"
                     /coded_by="NM_013387.4:31..222"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS46680.1"
                     /db_xref="GeneID:29796"
                     /db_xref="HGNC:HGNC:30863"
                     /db_xref="MIM:610843"
ORIGIN      
        1 maaatltskl ysllfrrtst faltiivgvm fferafdqga daiydhineg klwkhikhky
       61 enk
//
LOCUS       NP_001116151            2765 aa            linear   PRI 25-DEC-2022
DEFINITION  teneurin-2 isoform 1 [Homo sapiens].
ACCESSION   NP_001116151
VERSION     NP_001116151.1
DBSOURCE    REFSEQ: accession NM_001122679.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2765)
  AUTHORS   Vysokov NV, Silva JP, Lelianova VG, Suckling J, Cassidy J,
            Blackburn JK, Yankova N, Djamgoz MB, Kozlov SV, Tonevitsky AG and
            Ushkaryov YA.
  TITLE     Proteolytically released Lasso/teneurin-2 induces axonal attraction
            by interacting with latrophilin-1 on axonal growth cones
  JOURNAL   Elife 7, e37935 (2018)
   PUBMED   30457553
  REMARK    GeneRIF: These findings reveal a novel mechanism of axonal
            pathfinding, whereby latrophilin-1 and Lasso mediate both
            short-range interaction that supports synaptogenesis, and
            long-range signaling that induces axonal attraction.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 2765)
  AUTHORS   Tews D, Fromme T, Keuper M, Hofmann SM, Debatin KM, Klingenspor M,
            Wabitsch M and Fischer-Posovszky P.
  TITLE     Teneurin-2 (TENM2) deficiency induces UCP1 expression in
            differentiating human fat cells
  JOURNAL   Mol Cell Endocrinol 443, 106-113 (2017)
   PUBMED   28088466
  REMARK    GeneRIF: TENM2 knockdown induces both UCP1 mRNA and protein
            expression upon adipogenic differentiation without affecting
            mitochondrial mass.
REFERENCE   3  (residues 1 to 2765)
  AUTHORS   Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C,
            Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T,
            Cousminer DL, Feenstra B, Franceschini N, Ganna A, Johnson AD,
            Kjellqvist S, Lunetta KL, McMahon G, Nolte IM, Paternoster L, Porcu
            E, Smith AV, Stolk L, Teumer A, Tsernikova N, Tikkanen E, Ulivi S,
            Wagner EK, Amin N, Bierut LJ, Byrne EM, Hottenga JJ, Koller DL,
            Mangino M, Pers TH, Yerges-Armstrong LM, Zhao JH, Andrulis IL,
            Anton-Culver H, Atsma F, Bandinelli S, Beckmann MW, Benitez J,
            Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H,
            Buring JE, Chang-Claude J, Chanock S, Chen J, Chenevix-Trench G,
            Collee JM, Couch FJ, Couper D, Coveillo AD, Cox A, Czene K, D'adamo
            AP, Smith GD, De Vivo I, Demerath EW, Dennis J, Devilee P,
            Dieffenbach AK, Dunning AM, Eiriksdottir G, Eriksson JG, Fasching
            PA, Ferrucci L, Flesch-Janys D, Flyger H, Foroud T, Franke L,
            Garcia ME, Garcia-Closas M, Geller F, de Geus EE, Giles GG,
            Gudbjartsson DF, Gudnason V, Guenel P, Guo S, Hall P, Hamann U,
            Haring R, Hartman CA, Heath AC, Hofman A, Hooning MJ, Hopper JL, Hu
            FB, Hunter DJ, Karasik D, Kiel DP, Knight JA, Kosma VM, Kutalik Z,
            Lai S, Lambrechts D, Lindblom A, Magi R, Magnusson PK, Mannermaa A,
            Martin NG, Masson G, McArdle PF, McArdle WL, Melbye M, Michailidou
            K, Mihailov E, Milani L, Milne RL, Nevanlinna H, Neven P, Nohr EA,
            Oldehinkel AJ, Oostra BA, Palotie A, Peacock M, Pedersen NL,
            Peterlongo P, Peto J, Pharoah PD, Postma DS, Pouta A, Pylkas K,
            Radice P, Ring S, Rivadeneira F, Robino A, Rose LM, Rudolph A,
            Salomaa V, Sanna S, Schlessinger D, Schmidt MK, Southey MC, Sovio
            U, Stampfer MJ, Stockl D, Storniolo AM, Timpson NJ, Tyrer J, Visser
            JA, Vollenweider P, Volzke H, Waeber G, Waldenberger M,
            Wallaschofski H, Wang Q, Willemsen G, Winqvist R, Wolffenbuttel BH,
            Wright MJ, Boomsma DI, Econs MJ, Khaw KT, Loos RJ, McCarthy MI,
            Montgomery GW, Rice JP, Streeten EA, Thorsteinsdottir U, van Duijn
            CM, Alizadeh BZ, Bergmann S, Boerwinkle E, Boyd HA, Crisponi L,
            Gasparini P, Gieger C, Harris TB, Ingelsson E, Jarvelin MR, Kraft
            P, Lawlor D, Metspalu A, Pennell CE, Ridker PM, Snieder H, Sorensen
            TI, Spector TD, Strachan DP, Uitterlinden AG, Wareham NJ, Widen E,
            Zygmunt M, Murray A, Easton DF, Stefansson K, Murabito JM and Ong
            KK.
  CONSRTM   Australian Ovarian Cancer Study; GENICA Network; kConFab; LifeLines
            Cohort Study; InterAct Consortium; Early Growth Genetics (EGG)
            Consortium
  TITLE     Parent-of-origin-specific allelic associations among 106 genomic
            loci for age at menarche
  JOURNAL   Nature 514 (7520), 92-97 (2014)
   PUBMED   25231870
REFERENCE   4  (residues 1 to 2765)
  AUTHORS   Scannell Bryan M, Argos M, Pierce B, Tong L, Rakibuz-Zaman M, Ahmed
            A, Rahman M, Islam T, Yunus M, Parvez F, Roy S, Jasmine F, Baron
            JA, Kibriya MG and Ahsan H.
  TITLE     Genome-wide association studies and heritability estimates of body
            mass index related phenotypes in Bangladeshi adults
  JOURNAL   PLoS One 9 (8), e105062 (2014)
   PUBMED   25133637
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 2765)
  AUTHORS   Tanaka T, Ngwa JS, van Rooij FJ, Zillikens MC, Wojczynski MK,
            Frazier-Wood AC, Houston DK, Kanoni S, Lemaitre RN, Luan J, Mikkila
            V, Renstrom F, Sonestedt E, Zhao JH, Chu AY, Qi L, Chasman DI, de
            Oliveira Otto MC, Dhurandhar EJ, Feitosa MF, Johansson I, Khaw KT,
            Lohman KK, Manichaikul A, McKeown NM, Mozaffarian D, Singleton A,
            Stirrups K, Viikari J, Ye Z, Bandinelli S, Barroso I, Deloukas P,
            Forouhi NG, Hofman A, Liu Y, Lyytikainen LP, North KE, Dimitriou M,
            Hallmans G, Kahonen M, Langenberg C, Ordovas JM, Uitterlinden AG,
            Hu FB, Kalafati IP, Raitakari O, Franco OH, Johnson A, Emilsson V,
            Schrack JA, Semba RD, Siscovick DS, Arnett DK, Borecki IB, Franks
            PW, Kritchevsky SB, Lehtimaki T, Loos RJ, Orho-Melander M, Rotter
            JI, Wareham NJ, Witteman JC, Ferrucci L, Dedoussis G, Cupples LA
            and Nettleton JA.
  TITLE     Genome-wide meta-analysis of observational studies shows common
            genetic variants associated with macronutrient intake
  JOURNAL   Am J Clin Nutr 97 (6), 1395-1402 (2013)
   PUBMED   23636237
REFERENCE   6  (residues 1 to 2765)
  AUTHORS   Vinatzer U, Gollinger M, Mullauer L, Raderer M, Chott A and
            Streubel B.
  TITLE     Mucosa-associated lymphoid tissue lymphoma: novel translocations
            including rearrangements of ODZ2, JMJD2C, and CNN3
  JOURNAL   Clin Cancer Res 14 (20), 6426-6431 (2008)
   PUBMED   18927281
  REMARK    GeneRIF: Gene rearrangements of ODZ2 is associated with
            mucosa-associated lymphoid tissue lymphoma.
REFERENCE   7  (residues 1 to 2765)
  AUTHORS   Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S,
            Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She
            X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb
            E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar
            J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E,
            Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L,
            Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y,
            Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck
            S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez
            A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M,
            Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF,
            Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas
            SM, Myers RM and Rubin EM.
  TITLE     The DNA sequence and comparative analysis of human chromosome 5
  JOURNAL   Nature 431 (7006), 268-274 (2004)
   PUBMED   15372022
REFERENCE   8  (residues 1 to 2765)
  AUTHORS   Bagutti C, Forro G, Ferralli J, Rubin B and Chiquet-Ehrismann R.
  TITLE     The intracellular domain of teneurin-2 has a nuclear function and
            represses zic-1-mediated transcription
  JOURNAL   J Cell Sci 116 (Pt 14), 2957-2966 (2003)
   PUBMED   12783990
  REMARK    GeneRIF: intracellular domain of teneurin-2 has a nuclear function
            and role in repressing zic-1-mediated transcription
REFERENCE   9  (residues 1 to 2765)
  AUTHORS   Ben-Zur T, Feige E, Motro B and Wides R.
  TITLE     The mammalian Odz gene family: homologs of a Drosophila pair-rule
            gene with expression implying distinct yet overlapping
            developmental roles
  JOURNAL   Dev Biol 217 (1), 107-120 (2000)
   PUBMED   10625539
REFERENCE   10 (residues 1 to 2765)
  AUTHORS   Oohashi T, Zhou XH, Feng K, Richter B, Morgelin M, Perez MT, Su WD,
            Chiquet-Ehrismann R, Rauch U and Fassler R.
  TITLE     Mouse ten-m/Odz is a new family of dimeric type II transmembrane
            proteins expressed in many tissues
  JOURNAL   J Cell Biol 145 (3), 563-577 (1999)
   PUBMED   10225957
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008607.5, AC008642.5, AC008601.7, AC093304.4, AC008464.7,
            AC008705.6, AC011369.4, AC008637.7 and AC026689.6.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMN03465403,
                              SAMN03465404 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2765
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q34"
     Protein         1..2765
                     /product="teneurin-2 isoform 1"
                     /note="odd Oz/ten-m homolog 2; teneurin-2; neurestin
                     alpha; odz, odd Oz/ten-m homolog 2; tenascin-M2; protein
                     Odd Oz/ten-m homolog 2"
                     /calculated_mol_wt=306756
     Region          10..374
                     /region_name="Ten_N"
                     /note="Teneurin Intracellular Region; pfam06484"
                     /db_xref="CDD:428971"
     Site            90
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9WTS5; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          111..271
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            124
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UHK6; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            155
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9R1K2; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            157
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R1K2; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            380..400
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            443
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            482
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            528..529
                     /site_type="cleavage"
                     /note="Cleavage. /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          575..734
                     /region_name="DUF5885"
                     /note="Family of unknown function (DUF5885); pfam19232"
                     /db_xref="CDD:437064"
     Region          <755..796
                     /region_name="DSL"
                     /note="Delta serrate ligand; cl19567"
                     /db_xref="CDD:450329"
     Region          798..831
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            916
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            939
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          1231..1561
                     /region_name="NHL"
                     /note="NHL repeat unit of beta-propeller proteins;
                     cl18310"
                     /db_xref="CDD:302697"
     Region          1231..1270
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Site            1258
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          1263..1307
                     /region_name="NHL 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          1282..1325
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1333..1377
                     /region_name="NHL 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          1349..1387
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1392..1443
                     /region_name="NHL 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          1403..1444
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1465..1492
                     /region_name="NHL 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          1467..1500
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1521..1564
                     /region_name="NHL 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          1535..1561
                     /region_name="NHL repeat"
                     /note="NHL repeat [structural motif]"
                     /db_xref="CDD:271320"
     Region          1574..1593
                     /region_name="YD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            1607
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          1610..1630
                     /region_name="YD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          1673..1709
                     /region_name="RHS_repeat"
                     /note="RHS Repeat; pfam05593"
                     /db_xref="CDD:428530"
     Region          1673..1692
                     /region_name="YD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          1693..1715
                     /region_name="YD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            1703
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            1740
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            1764
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            1798
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            1883
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          1886..1905
                     /region_name="YD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          1927..1945
                     /region_name="YD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          <1946..>2432
                     /region_name="RhsA"
                     /note="Uncharacterized conserved protein RhsA, contains 28
                     RHS repeats [General function prediction only]; COG3209"
                     /db_xref="CDD:225750"
     Region          1946..1966
                     /region_name="YD 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          1973..1990
                     /region_name="YD 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            1984
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          1991..2012
                     /region_name="YD 9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2013..2030
                     /region_name="YD 10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2033..2053
                     /region_name="YD 11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2056..2076
                     /region_name="YD 12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2084..2104
                     /region_name="YD 13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2110..2127
                     /region_name="YD 14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2128..2154
                     /region_name="YD 15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2156..2169
                     /region_name="YD 16"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2170..2193
                     /region_name="YD 17"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            2188
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2196..2216
                     /region_name="YD 18"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2217..2237
                     /region_name="YD 19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2239..2259
                     /region_name="YD 20"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2271..2291
                     /region_name="YD 21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2293..2313
                     /region_name="YD 22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Site            2328
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2339..2380
                     /region_name="YD 23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2382..2458
                     /region_name="Rhs_assc_core"
                     /note="RHS repeat-associated core domain; TIGR03696"
                     /db_xref="CDD:274730"
     Site            2639
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NT68.3)"
     Region          2681..2758
                     /region_name="Tox-GHH"
                     /note="GHH signature containing HNH/Endo VII superfamily
                     nuclease toxin; pfam15636"
                     /db_xref="CDD:434826"
     CDS             1..2765
                     /gene="TENM2"
                     /gene_synonym="ODZ2; ten-2; TEN-M2; TEN2; TNM2"
                     /coded_by="NM_001122679.2:190..8487"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="GeneID:57451"
                     /db_xref="HGNC:HGNC:29943"
                     /db_xref="MIM:610119"
ORIGIN      
        1 mdvkdrrhrs ltrgrcgkec rytsssldse dcrvptqksy sssetlkayd hdsrmhygnr
       61 vtdlihresd efprqgtnft laelgiceps phrsgycsdm gilhqgysls tgsdadsdte
      121 ggmspehair lwgrgiksrr ssglssrens altltdsdne nksddengrp ipptsspsll
      181 psaqlpsshn pppvscqmpl ldsntshqim dtnpdeefsp nsyllracsg pqqasssgpp
      241 nhhsqstlrp plppphnhtl shhhssansl nrnsltnrrs qihapapapn dlattpesvq
      301 lqdswvlnsn vpletrhflf ktssgstplf sssspgyplt sgtvytpppr llprntfsrk
      361 afklkkpsky cswkcaalsa iaaalllail layfiamhll glnwqlqpad ghtfnngirt
      421 glpgnddvat mpsggkvpws lknssidsge aevgrrvtqe vppgvfwrsq ihisqpqflk
      481 fnislgkdal fgvyirrglp pshaqydfme rldgkekwsv vesprerrsi qtlvqneavf
      541 vqyldvglwh lafyndgkdk emvsfntvvl dsvqdcprnc hgngecvsgv chcfpgflga
      601 dcakaacpvl csgngqyskg tcqcysgwkg aecdvpmnqc idpscgghgs cidgncvcsa
      661 gykgehceev dcldptcssh gvcvngeclc spgwgglnce larvqcpdqc sghgtylpdt
      721 glcscdpnwm gpdcsvevcs vdcgthgvci ggacrceegw tgaacdqrvc hprciehgtc
      781 kdgkcecreg wngehctidg cpdlcngngr ctlgqnswqc vcqtgwrgpg cnvametsca
      841 dnkdnegdgl vdcldpdccl qsacqnsllc rgsrdpldii qqgqtdwpav ksfydrikll
      901 agkdsthiip genpfnsslv slirgqvvtt dgtplvgvnv sfvkypkygy titrqdgtfd
      961 lianggaslt lhferapfms qertvwlpwn sfyamdtlvm kteensipsc dlsgfvrpdp
     1021 iiissplstf fsaapgqnpi vpetqvlhee ielpgsnvkl rylssrtagy ksllkitmtq
     1081 stvplnlirv hlmvaveghl fqksfqaspn laytfiwdkt daygqrvygl sdavvsvgfe
     1141 yetcpslilw ekrtallqgf eldpsnlggw sldkhhilnv ksgilhkgtg enqfltqqpa
     1201 iitsimgngr rrsiscpscn glaegnklla pvalavgidg slyvgdfnyi rrifpsrnvt
     1261 silelrnkef khsnnpahky ylavdpvsgs lyvsdtnsrr iyrvkslsgt kdlagnsevv
     1321 agtgeqclpf dearcgdggk aidatlmspr giavdknglm yfvdatmirk vdqngiistl
     1381 lgsndltavr plscdssmdv aqvrlewptd lavnpmdnsl yvlennvilr itenhqvsii
     1441 agrpmhcqvp gidyslskla ihsalesasa iaishtgvly itetdekkin rlrqvttnge
     1501 icllagaasd cdckndvncn cysgddayat dailnspssl avapdgtiyi adlgnirira
     1561 vsknkpvlna fnqyeaaspg eqelyvfnad gihqytvslv tgeylynfty stdndvteli
     1621 dnngnslkir rdssgmprhl lmpdnqiitl tvgtngglkv vstqnlelgl mtydgntgll
     1681 atksdetgwt tfydydhegr ltnvtrptgv vtslhremek sitidiensn rdddvtvitn
     1741 lssveasytv vqdqvrnsyq lcnngtlrvm yangmgisfh sephvlagti tptigrcnis
     1801 lpmenglnsi ewrlrkeqik gkvtifgrkl rvhgrnllsi dydrnirtek iyddhrkftl
     1861 riiydqvgrp flwlpssgla avnvsyffng rlaglqrgam sertdidkqg rivsrmfadg
     1921 kvwsysyldk smvlllqsqr qyifeydssd rllavtmpsv arhsmsthts igyirniynp
     1981 pesnasvifd ysddgrilkt sflgtgrqvf ykygklskls eivydstavt fgydettgvl
     2041 kmvnlqsggf sctiryrkig plvdkqiyrf seegmvnarf dytyhdnsfr iasikpvise
     2101 tplpvdlyry deisgkvehf gkfgviyydi nqiittavmt lskhfdthgr ikevqyemfr
     2161 slmywmtvqy dsmgrvikre lklgpyantt kytydydgdg qlqsvavndr ptwrysydln
     2221 gnlhllnpgn svrlmplryd lrdritrlgd vqykidddgy lcqrgsdife ynskglltra
     2281 ynkasgwsvq yrydgvgrra syktnlghhl qyfysdlhnp trithvynhs nseitslyyd
     2341 lqghlfames ssgeeyyvas dntgtplavf singlmikql qytaygeiyy dsnpdfqmvi
     2401 gfhgglydpl tklvhftqrd ydvlagrwts pdytmwknvg kepapfnlym fksnnplsse
     2461 ldlknyvtdv kswlvmfgfq lsniipgfpr akmyfvpppy elsesqasen gqlitgvqqt
     2521 terhnqafma legqvitkkl hasirekagh wfatttpiig kgimfaikeg rvttgvssia
     2581 sedsrkvasv lnnayyldkm hysiegkdth yfvkigsadg dlvtlgttig rkvlesgvnv
     2641 tvsqptllvn grtrrftnie fqystlllsi rygltpdtld eekarvldqa rqralgtawa
     2701 keqqkardgr egsrlwtege kqqllstgrv qgyegyyvlp veqypelads ssniqflrqn
     2761 emgkr
//
LOCUS       NP_001350473             383 aa            linear   PRI 25-DEC-2022
DEFINITION  palmitoyltransferase ZDHHC6 isoform 5 [Homo sapiens].
ACCESSION   NP_001350473 XP_016872054
VERSION     NP_001350473.1
DBSOURCE    REFSEQ: accession NM_001363544.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 383)
  AUTHORS   Marciel MP and Hoffmann PR.
  TITLE     Molecular Mechanisms by Which Selenoprotein K Regulates Immunity
            and Cancer
  JOURNAL   Biol Trace Elem Res 192 (1), 60-68 (2019)
   PUBMED   31187393
  REMARK    Review article
REFERENCE   2  (residues 1 to 383)
  AUTHORS   Kim YC, Lee SE, Kim SK, Jang HD, Hwang I, Jin S, Hong EB, Jang KS
            and Kim HS.
  TITLE     Toll-like receptor mediated inflammation requires FASN-dependent
            MYD88 palmitoylation
  JOURNAL   Nat Chem Biol 15 (9), 907-916 (2019)
   PUBMED   31427815
REFERENCE   3  (residues 1 to 383)
  AUTHORS   Abrami L, Dallavilla T, Sandoz PA, Demir M, Kunz B, Savoglidis G,
            Hatzimanikatis V and van der Goot FG.
  TITLE     Identification and dynamics of the human ZDHHC16-ZDHHC6
            palmitoylation cascade
  JOURNAL   Elife 6, e27826 (2017)
   PUBMED   28826475
  REMARK    GeneRIF: human ZDHHC6, which modifies key proteins of the
            endoplasmic reticulum, is controlled by an upstream
            palmitoyltransferase, ZDHHC16, revealing the first palmitoylation
            cascade.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 383)
  AUTHORS   Senyilmaz D, Virtue S, Xu X, Tan CY, Griffin JL, Miller AK,
            Vidal-Puig A and Teleman AA.
  TITLE     Regulation of mitochondrial morphology and function by
            stearoylation of TFR1
  JOURNAL   Nature 525 (7567), 124-128 (2015)
   PUBMED   26214738
REFERENCE   5  (residues 1 to 383)
  AUTHORS   Fredericks GJ, Hoffmann FW, Rose AH, Osterheld HJ, Hess FM, Mercier
            F and Hoffmann PR.
  TITLE     Stable expression and function of the inositol 1,4,5-triphosphate
            receptor requires palmitoylation by a DHHC6/selenoprotein K complex
  JOURNAL   Proc Natl Acad Sci U S A 111 (46), 16478-16483 (2014)
   PUBMED   25368151
  REMARK    GeneRIF: DHHC6 knockdown using shRNA in stably transfected cell
            lines led to decreased expression of the IP3R and impaired
            IP3R-dependent Ca(2+) flux.
REFERENCE   6  (residues 1 to 383)
  AUTHORS   Ohno Y, Kashio A, Ogata R, Ishitomi A, Yamazaki Y and Kihara A.
  TITLE     Analysis of substrate specificity of human DHHC protein
            acyltransferases using a yeast expression system
  JOURNAL   Mol Biol Cell 23 (23), 4543-4551 (2012)
   PUBMED   23034182
REFERENCE   7  (residues 1 to 383)
  AUTHORS   Fairbank M, Huang K, El-Husseini A and Nabi IR.
  TITLE     RING finger palmitoylation of the endoplasmic reticulum Gp78 E3
            ubiquitin ligase
  JOURNAL   FEBS Lett 586 (16), 2488-2493 (2012)
   PUBMED   22728137
REFERENCE   8  (residues 1 to 383)
  AUTHORS   Gorleku OA, Barns AM, Prescott GR, Greaves J and Chamberlain LH.
  TITLE     Endoplasmic reticulum localization of DHHC palmitoyltransferases
            mediated by lysine-based sorting signals
  JOURNAL   J Biol Chem 286 (45), 39573-39584 (2011)
   PUBMED   21926431
REFERENCE   9  (residues 1 to 383)
  AUTHORS   Ohno Y, Kihara A, Sano T and Igarashi Y.
  TITLE     Intracellular localization and tissue-specific distribution of
            human and yeast DHHC cysteine-rich domain-containing proteins
  JOURNAL   Biochim Biophys Acta 1761 (4), 474-483 (2006)
   PUBMED   16647879
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022018.10 and AL157786.13.
            On May 24, 2018 this sequence version replaced XP_016872054.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.117355.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..383
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.2"
     Protein         1..383
                     /product="palmitoyltransferase ZDHHC6 isoform 5"
                     /EC_number="2.3.1.225"
                     /note="zinc finger protein 376; transmembrane protein H4;
                     zinc finger DHHC domain-containing protein 6;
                     palmitoyltransferase ZDHHC6; zinc finger DHHC-type
                     containing 6; stearoyltransferase ZDHHC6"
                     /calculated_mol_wt=44027
     Site            25..45
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6R6.1)"
     Site            58..78
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6R6.1)"
     Region          95..241
                     /region_name="DHHC"
                     /note="DHHC palmitoyltransferase; pfam01529"
                     /db_xref="CDD:396215"
     Site            144..164
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6R6.1)"
     Site            206..226
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6R6.1)"
     CDS             1..383
                     /gene="ZDHHC6"
                     /gene_synonym="DHHC-6; DHHC6; ZNF376"
                     /coded_by="NM_001363544.2:642..1793"
                     /note="isoform 5 is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS86144.1"
                     /db_xref="GeneID:64429"
                     /db_xref="HGNC:HGNC:19160"
                     /db_xref="MIM:618715"
ORIGIN      
        1 mgtfcsvikf enlqelkrlc hwgpiialgv iaicstmami dsvlwywplh ttggsvnfim
       61 linwtvmily nyfnamfvgp gfvplgwkpe isqdtmylqy ckvcqaykap rshhcrkcnr
      121 cvmkmdhhcp winnccgyqn hasftlflll aplgcihaaf ifvmtmytql yhrlsfgwnt
      181 vkidmsaarr dplpivpfgl aafattlfal glalgttiav gmlffiqmki ilrnktsies
      241 wieekakdri qyyqldevfv fpydmgsrwr nfkqvftwsg vpegdglewp vregchqysl
      301 tieqlkqkad krvrsvrykv iedysgaccp lnkgiktfft spcteepriq lqkgefilat
      361 rglrywlygd kilddsfieg vlv
//
LOCUS       NP_001339531             911 aa            linear   PRI 26-DEC-2022
DEFINITION  DNA ligase 4 isoform 1 [Homo sapiens].
ACCESSION   NP_001339531 XP_011519394
VERSION     NP_001339531.1
DBSOURCE    REFSEQ: accession NM_001352602.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 911)
  AUTHORS   He P, Li R, Luo W and Meng L.
  TITLE     [Correlation of polymorphisms of DNA double-strand break repair
            genes XRCC5, LIG4 and glioma]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 39 (6), 641-645 (2022)
   PUBMED   35773772
  REMARK    GeneRIF: [Correlation of polymorphisms of DNA double-strand break
            repair genes XRCC5, LIG4 and glioma].
REFERENCE   2  (residues 1 to 911)
  AUTHORS   Kim JJ, Lee SY, Hwang Y, Kim S, Chung JM, Park S, Yoon J, Yun H, Ji
            JH, Chae S, Cho H, Kim CG, Dawson TM, Kim H, Dawson VL and Kang HC.
  TITLE     USP39 promotes non-homologous end-joining repair by
            poly(ADP-ribose)-induced liquid demixing
  JOURNAL   Nucleic Acids Res 49 (19), 11083-11102 (2021)
   PUBMED   34614178
  REMARK    GeneRIF: USP39 promotes non-homologous end-joining repair by
            poly(ADP-ribose)-induced liquid demixing.
REFERENCE   3  (residues 1 to 911)
  AUTHORS   Luo X, Liu Q, Jiang J, Tang W, Ding Y, Zhou L, Yu J, Tang X, An Y
            and Zhao X.
  TITLE     Characterization of a Cohort of Patients With LIG4 Deficiency
            Reveals the Founder Effect of p.R278L, Unique to the Chinese
            Population
  JOURNAL   Front Immunol 12, 695993 (2021)
   PUBMED   34630384
  REMARK    GeneRIF: Characterization of a Cohort of Patients With LIG4
            Deficiency Reveals the Founder Effect of p.R278L, Unique to the
            Chinese Population.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 911)
  AUTHORS   Chaplin AK, Hardwick SW, Stavridi AK, Buehl CJ, Goff NJ, Ropars V,
            Liang S, De Oliveira TM, Chirgadze DY, Meek K, Charbonnier JB and
            Blundell TL.
  TITLE     Cryo-EM of NHEJ supercomplexes provides insights into DNA repair
  JOURNAL   Mol Cell 81 (16), 3400-3409 (2021)
   PUBMED   34352203
  REMARK    GeneRIF: Cryo-EM of NHEJ supercomplexes provides insights into DNA
            repair.
REFERENCE   5  (residues 1 to 911)
  AUTHORS   Maddi ER, Raghavan SC and Natesh R.
  TITLE     Hypomorphic mutations in human DNA ligase IV lead to compromised
            DNA binding efficiency, hydrophobicity and thermal stability
  JOURNAL   Protein Eng Des Sel 34 (2021)
   PUBMED   33586762
  REMARK    GeneRIF: Hypomorphic mutations in human DNA ligase IV lead to
            compromised DNA binding efficiency, hydrophobicity and thermal
            stability.
REFERENCE   6  (residues 1 to 911)
  AUTHORS   Leon DA, Chenet L, Shkolnikov VM, Zakharov S, Shapiro J, Rakhmanova
            G, Vassin S and McKee M.
  TITLE     Huge variation in Russian mortality rates 1984-94: artefact,
            alcohol, or what?
  JOURNAL   Lancet 350 (9075), 383-388 (1997)
   PUBMED   9259651
REFERENCE   7  (residues 1 to 911)
  AUTHORS   Critchlow SE, Bowater RP and Jackson SP.
  TITLE     Mammalian DNA double-strand break repair protein XRCC4 interacts
            with DNA ligase IV
  JOURNAL   Curr Biol 7 (8), 588-598 (1997)
   PUBMED   9259561
REFERENCE   8  (residues 1 to 911)
  AUTHORS   Grawunder U, Wilm M, Wu X, Kulesza P, Wilson TE, Mann M and Lieber
            MR.
  TITLE     Activity of DNA ligase IV stimulated by complex formation with
            XRCC4 protein in mammalian cells
  JOURNAL   Nature 388 (6641), 492-495 (1997)
   PUBMED   9242410
REFERENCE   9  (residues 1 to 911)
  AUTHORS   Robins P and Lindahl T.
  TITLE     DNA ligase IV from HeLa cell nuclei
  JOURNAL   J Biol Chem 271 (39), 24257-24261 (1996)
   PUBMED   8798671
REFERENCE   10 (residues 1 to 911)
  AUTHORS   Wei YF, Robins P, Carter K, Caldecott K, Pappin DJ, Yu GL, Wang RP,
            Shell BK, Nash RA, Schar P et al.
  TITLE     Molecular cloning and expression of human cDNAs encoding a novel
            DNA ligase IV and DNA ligase III, an enzyme active in DNA repair
            and recombination
  JOURNAL   Mol Cell Biol 15 (6), 3206-3216 (1995)
   PUBMED   7760816
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157762.13.
            On Jun 18, 2017 this sequence version replaced XP_011519394.1.
            
            Summary: The protein encoded by this gene is a DNA ligase that
            joins single-strand breaks in a double-stranded polydeoxynucleotide
            in an ATP-dependent reaction. This protein is essential for V(D)J
            recombination and DNA double-strand break (DSB) repair through
            nonhomologous end joining (NHEJ). This protein forms a complex with
            the X-ray repair cross complementing protein 4 (XRCC4), and further
            interacts with the DNA-dependent protein kinase (DNA-PK). Both
            XRCC4 and DNA-PK are known to be required for NHEJ. The crystal
            structure of the complex formed by this protein and XRCC4 has been
            resolved. Defects in this gene are the cause of LIG4 syndrome.
            Alternatively spliced transcript variants encoding the same protein
            have been observed. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (9), as well as variants 1-3, 5-8,
            and 10, encodes isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.695191.1,
                                           SRR14038193.2934201.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2142363 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..911
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q33.3"
     Protein         1..911
                     /product="DNA ligase 4 isoform 1"
                     /EC_number="6.5.1.1"
                     /note="polynucleotide ligase; ligase IV, DNA,
                     ATP-dependent; DNA repair enzyme; DNA joinase;
                     polydeoxyribonucleotide synthase [ATP] 4; sealase; DNA
                     ligase IV"
                     /calculated_mol_wt=103840
     Region          81..602
                     /region_name="dnl1"
                     /note="DNA ligase I, ATP-dependent (dnl1); TIGR00574"
                     /db_xref="CDD:273147"
     Region          658..745
                     /region_name="BRCT_DNA_ligase_IV_rpt1"
                     /note="first BRCT domain of DNA ligase 4 (LIG4) and
                     similar proteins; cd17722"
                     /db_xref="CDD:349354"
     Region          750..783
                     /region_name="DNA_ligase_IV"
                     /note="DNA ligase IV; pfam11411"
                     /db_xref="CDD:431872"
     Region          813..900
                     /region_name="BRCT_DNA_ligase_IV_rpt2"
                     /note="second BRCT domain of DNA ligase 4 (LIG4) and
                     similar proteins; cd17717"
                     /db_xref="CDD:349349"
     Site            order(814,835..837,839..840,843..844,846..847,895,
                     898..899)
                     /site_type="other"
                     /note="XRCC4 interaction site [polypeptide binding]"
                     /db_xref="CDD:349349"
     CDS             1..911
                     /gene="LIG4"
                     /gene_synonym="LIG4S"
                     /coded_by="NM_001352602.2:151..2886"
                     /note="isoform 1 is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS9508.1"
                     /db_xref="GeneID:3981"
                     /db_xref="HGNC:HGNC:6601"
                     /db_xref="MIM:601837"
ORIGIN      
        1 maasqtsqtv ashvpfadlc stleriqksk graekirhfr efldswrkfh dalhknhkdv
       61 tdsfypamrl ilpqlererm aygiketmla klyiellnlp rdgkdalkll nyrtptgthg
      121 dagdfamiay fvlkprclqk gsltiqqvnd lldsiasnns akrkdlikks llqlitqssa
      181 leqkwlirmi ikdlklgvsq qtifsvfhnd aaelhnvttd lekvcrqlhd psvglsdisi
      241 tlfsafkpml aaiadiehie kdmkhqsfyi etkldgermq mhkdgdvyky fsrngynytd
      301 qfgasptegs ltpfihnafk adiqicildg emmaynpntq tfmqkgtkfd ikrmvedsdl
      361 qtcycvfdvl mvnnkklghe tlrkryeils siftpipgri eivqktqaht knevidalne
      421 aidkreegim vkqplsiykp dkrgegwlki kpeyvsglmd eldilivggy wgkgsrggmm
      481 shflcavaek pppgekpsvf htlsrvgsgc tmkelydlgl klakywkpfh rkappssilc
      541 gtekpevyie pcnsvivqik aaeivpsdmy ktgctlrfpr iekirddkew hecmtlddle
      601 qlrgkasgkl askhlyiggd depqekkrka apkmkkvigi iehlkapnlt nvnkisnife
      661 dvefcvmsgt dsqpkpdlen riaefggyiv qnpgpdtycv iagsenirvk niilsnkhdv
      721 vkpawllecf ktksfvpwqp rfmihmcpst kehfareydc ygdsyfidtd lnqlkevfsg
      781 iknsneqtpe emasliadle yryswdcspl smfrrhtvyl dsyavindls tknegtrlai
      841 kalelrfhga kvvsclaegv shviigedhs rvadfkafrr tfkrkfkilk eswvtdsidk
      901 celqeenqyl i
//
LOCUS       NP_001138868             751 aa            linear   PRI 27-DEC-2022
DEFINITION  aldehyde dehydrogenase family 16 member A1 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001138868
VERSION     NP_001138868.1
DBSOURCE    REFSEQ: accession NM_001145396.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 751)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 751)
  AUTHORS   Vasiliou V, Sandoval M, Backos DS, Jackson BC, Chen Y, Reigan P,
            Lanaspa MA, Johnson RJ, Koppaka V and Thompson DC.
  TITLE     ALDH16A1 is a novel non-catalytic enzyme that may be involved in
            the etiology of gout via protein-protein interactions with HPRT1
  JOURNAL   Chem Biol Interact 202 (1-3), 22-31 (2013)
   PUBMED   23348497
  REMARK    GeneRIF: Both the short and long forms of human ALDH16A1 protein
            would lack catalytic activity.
REFERENCE   3  (residues 1 to 751)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   4  (residues 1 to 751)
  AUTHORS   Hanna MC and Blackstone C.
  TITLE     Interaction of the SPG21 protein ACP33/maspardin with the aldehyde
            dehydrogenase ALDH16A1
  JOURNAL   Neurogenetics 10 (3), 217-228 (2009)
   PUBMED   19184135
  REMARK    GeneRIF: Data report that maspardin localizes prominently to
            cytoplasm as well as to membranes, possibly at trans-Golgi
            network/late endosomal compartments, and that maspardin interacts
            with the aldehyde dehydrogenase ALDH16A1.
REFERENCE   5  (residues 1 to 751)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA629821.1, AK297101.1,
            AY007096.1 and AC010619.7.
            
            Summary: This gene encodes a member of the aldehyde dehydrogenase
            superfamily. The family members act on aldehyde substrates and use
            nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor.
            This gene is conserved in chimpanzee, dog, cow, mouse, rat, and
            zebrafish. The protein encoded by this gene interacts with
            maspardin, a protein that when truncated is responsible for Mast
            syndrome. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Apr 2010].
            
            Transcript Variant: This variant (2) lacks an exon in the coding
            region compared to variant 1 and remains in-frame. The encoded
            isoform (2) is shorter compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK297101.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..751
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..751
                     /product="aldehyde dehydrogenase family 16 member A1
                     isoform 2"
                     /note="aldehyde dehydrogenase family 16 member A1"
                     /calculated_mol_wt=79787
     Region          19..441
                     /region_name="ALDH-SF"
                     /note="NAD(P)+-dependent aldehyde dehydrogenase
                     superfamily; cl11961"
                     /db_xref="CDD:448367"
     Region          476..>714
                     /region_name="ALDH-SF"
                     /note="NAD(P)+-dependent aldehyde dehydrogenase
                     superfamily; cl11961"
                     /db_xref="CDD:448367"
     CDS             1..751
                     /gene="ALDH16A1"
                     /coded_by="NM_001145396.2:108..2363"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS46141.1"
                     /db_xref="GeneID:126133"
                     /db_xref="HGNC:HGNC:28114"
                     /db_xref="MIM:613358"
ORIGIN      
        1 maatragpra reiftsleyg pvpeshacal awldtqdrcl ghyvngkwlk pehrnsvpcq
       61 dpitgenlas clqaqaedva aaveaarmaf kgwsahpgvv raqhltrlae viqkhqrllw
      121 tleslvtgra vrevrdgdvq laqqllhyha iqastqeeal agwepmgvig lilpptfsfl
      181 emmwricpal avgctvvalv ppaspaplll aqlagelgpf pgilnvlsgp aslvpilasq
      241 pgirkvafcg apegglrlli qesvwdeamr rlqermgrlr sgrgldgavd mgargaaacd
      301 lvqrfvreaq sqgaqvfqag dvpserpfyp ptlvsnlppa spcaqvevpw pvvvaspfrt
      361 akeallvang tprggsasvw serlgqalel gyglqvgtvw inahglrdps vptggckesg
      421 cswhggpdgl yeylrpsgtp arlsclsknl nydtfglavp stlpagpeig pspappyglf
      481 vggrfqapga rssrpirdss gnlhgyvaeg gakdirgave aahqafpgwa gqspgaraal
      541 lwalaaaler rkstlasrle rqgaelkaae aevelsarrl rawgarvqaq ghtlqvaglr
      601 gpvlrlrepl gvlavvcpde wpllafvsll apalaygntv vmvpsaacpl lalevcqdma
      661 tvfpaglanv vtgdrdhltr clalhqdvqa mwyfgsaqgs qfvewasagn lkpvwasrgc
      721 prawdqeaeg agpelglrva rtkalwlpmg d
//
LOCUS       NP_001311304             682 aa            linear   PRI 27-DEC-2022
DEFINITION  cullin-2 isoform d [Homo sapiens].
ACCESSION   NP_001311304
VERSION     NP_001311304.1
DBSOURCE    REFSEQ: accession NM_001324375.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 682)
  AUTHORS   Ji Z, Wang X, Liu Y, Zhong M, Sun J and Shang J.
  TITLE     MicroRNA-574-3p Regulates HIF-alpha Isoforms Promoting Gastric
            Cancer Epithelial-Mesenchymal Transition via Targeting CUL2
  JOURNAL   Dig Dis Sci 67 (8), 3714-3724 (2022)
   PUBMED   34655362
  REMARK    GeneRIF: MicroRNA-574-3p Regulates HIF-alpha Isoforms Promoting
            Gastric Cancer Epithelial-Mesenchymal Transition via Targeting
            CUL2.
REFERENCE   2  (residues 1 to 682)
  AUTHORS   Fonseca BF and Chakrabarti LA.
  TITLE     A close shave: How SARS-CoV-2 induces the loss of cilia
  JOURNAL   J Cell Biol 221 (7) (2022)
   PUBMED   35695891
  REMARK    GeneRIF: A close shave: How SARS-CoV-2 induces the loss of cilia.
REFERENCE   3  (residues 1 to 682)
  AUTHORS   Meng L, Zhang Y, Wu P, Li D, Lu Y, Shen P, Yang T, Shi G, Chen Q,
            Yuan H, Ge W, Miao Y, Tu M and Jiang K.
  TITLE     CircSTX6 promotes pancreatic ductal adenocarcinoma progression by
            sponging miR-449b-5p and interacting with CUL2
  JOURNAL   Mol Cancer 21 (1), 121 (2022)
   PUBMED   35650603
  REMARK    GeneRIF: CircSTX6 promotes pancreatic ductal adenocarcinoma
            progression by sponging miR-449b-5p and interacting with CUL2.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 682)
  AUTHORS   Hirth CG, Vasconcelos GR, da Cunha MDPSS, Leite CHB and Dornelas
            CA.
  TITLE     Immunoexpression of HSPA9 and CUL2 in prostatic tissue and
            adenocarcinoma
  JOURNAL   Ann Diagn Pathol 56, 151843 (2022)
   PUBMED   34717191
  REMARK    GeneRIF: Immunoexpression of HSPA9 and CUL2 in prostatic tissue and
            adenocarcinoma.
REFERENCE   5  (residues 1 to 682)
  AUTHORS   Le TT, Ainsworth J, Polo Rivera C, Macartney T and Labib KPM.
  TITLE     Reconstitution of human CMG helicase ubiquitylation by CUL2LRR1 and
            multiple E2 enzymes
  JOURNAL   Biochem J 478 (14), 2825-2842 (2021)
   PUBMED   34195792
  REMARK    GeneRIF: Reconstitution of human CMG helicase ubiquitylation by
            CUL2LRR1 and multiple E2 enzymes.
REFERENCE   6  (residues 1 to 682)
  AUTHORS   Wada H, Yeh ET and Kamitani T.
  TITLE     Identification of NEDD8-conjugation site in human cullin-2
  JOURNAL   Biochem Biophys Res Commun 257 (1), 100-105 (1999)
   PUBMED   10092517
REFERENCE   7  (residues 1 to 682)
  AUTHORS   Lonergan KM, Iliopoulos O, Ohh M, Kamura T, Conaway RC, Conaway JW
            and Kaelin WG Jr.
  TITLE     Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau
            tumor suppressor protein requires binding to complexes containing
            elongins B/C and Cul2
  JOURNAL   Mol Cell Biol 18 (2), 732-741 (1998)
   PUBMED   9447969
REFERENCE   8  (residues 1 to 682)
  AUTHORS   Pause A, Lee S, Worrell RA, Chen DY, Burgess WH, Linehan WM and
            Klausner RD.
  TITLE     The von Hippel-Lindau tumor-suppressor gene product forms a stable
            complex with human CUL-2, a member of the Cdc53 family of proteins
  JOURNAL   Proc Natl Acad Sci U S A 94 (6), 2156-2161 (1997)
   PUBMED   9122164
REFERENCE   9  (residues 1 to 682)
  AUTHORS   Kipreos ET, Lander LE, Wing JP, He WW and Hedgecock EM.
  TITLE     cul-1 is required for cell cycle exit in C. elegans and identifies
            a novel gene family
  JOURNAL   Cell 85 (6), 829-839 (1996)
   PUBMED   8681378
REFERENCE   10 (residues 1 to 682)
  AUTHORS   Kibel A, Iliopoulos O, DeCaprio JA and Kaelin WG Jr.
  TITLE     Binding of the von Hippel-Lindau tumor suppressor protein to
            Elongin B and C
  JOURNAL   Science 269 (5229), 1444-1446 (1995)
   PUBMED   7660130
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL392046.11 and AK294080.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.711106.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..682
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p11.21"
     Protein         1..682
                     /product="cullin-2 isoform d"
                     /note="CUL-2; testis secretory sperm-binding protein Li
                     238E"
                     /calculated_mol_wt=79387
     Region          14..581
                     /region_name="Cullin"
                     /note="Cullin family; pfam00888"
                     /db_xref="CDD:425932"
     Region          612..672
                     /region_name="Cullin_Nedd8"
                     /note="Cullin protein neddylation domain; pfam10557"
                     /db_xref="CDD:431356"
     CDS             1..682
                     /gene="CUL2"
                     /coded_by="NM_001324375.2:186..2234"
                     /note="isoform d is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS91236.1"
                     /db_xref="GeneID:8453"
                     /db_xref="HGNC:HGNC:2552"
                     /db_xref="MIM:603135"
ORIGIN      
        1 mslkprvvdf detwnklltt ikavvmleyv eratwndrfs diyalcvayp eplgerlyte
       61 tkiflenhvr hlhkrvlese eqvlvmyhry weeyskgady mdclysdrgg edpnqkvihg
      121 vinsfvhveq ykkkfplkfy qeifespflt etgeyykqea snllqesncs qymekvlgrl
      181 kdeeircrky lhpssytkvi hecqqrmvad hlqflhaech niirqekknd manmyvllra
      241 vstglphmiq elqnhihdeg lratsnltqe nmptlfvesv levhgkfvql intvlngdqh
      301 fmsaldkalt svvnyrepks vckapellak ycdnllkksa kgmteneved rltsfitvfk
      361 yiddkdvfqk fyarmlakrl ihglsmsmds eeaminklkq acgyeftskl hrmytdmsvs
      421 adlnnkfnnf iknqdtvidl gisfqiyvlq agawpltqap sstfaipqel eksvqmfelf
      481 ysqhfsgrkl twlhylctge vkmnylgkpy vamvttyqma vllafnnset vsykelqdst
      541 qmnekeltkt ikslldvkmi nhdsekedid aessfslnmn fsskrtkfki ttsmqkdtpq
      601 emeqtrsavd edrkmylqaa ivrimkarkv lrhnaliqev isqsrarfnp sismikkcie
      661 vlidkqyier sqasadeysy va
//
LOCUS       NP_001355000             602 aa            linear   PRI 27-DEC-2022
DEFINITION  golgin subfamily A member 8A isoform 2 [Homo sapiens].
ACCESSION   NP_001355000 XP_006720503
VERSION     NP_001355000.1
DBSOURCE    REFSEQ: accession NM_001368071.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 602)
  AUTHORS   Merino-Zamorano C, Delgado P, Fernandez de Retana S,
            Fernandez-Cadenas I, Rodriguez-Luna D, Montaner J and
            Hernandez-Guillamon M.
  TITLE     Identification of Plasma Biomarkers of Human Intracerebral
            Hemorrhage Subtypes through Microarray Technology
  JOURNAL   J Stroke Cerebrovasc Dis 25 (3), 665-671 (2016)
   PUBMED   26738811
  REMARK    GeneRIF: The microarray analysis and the validation study revealed
            an increase in Golgin A8 Family, Member A (GOLGA8A) mRNA and
            protein levels in Intracerebral hemorrhage.
REFERENCE   2  (residues 1 to 602)
  AUTHORS   Eystathioy T, Jakymiw A, Fujita DJ, Fritzler MJ and Chan EK.
  TITLE     Human autoantibodies to a novel Golgi protein golgin-67: high
            similarity with golgin-95/gm 130 autoantigen
  JOURNAL   J Autoimmun 14 (2), 179-187 (2000)
   PUBMED   10677249
REFERENCE   3  (residues 1 to 602)
  AUTHORS   Jakymiw A, Raharjo E, Rattner JB, Eystathioy T, Chan EK and Fujita
            DJ.
  TITLE     Identification and characterization of a novel Golgi protein,
            golgin-67
  JOURNAL   J Biol Chem 275 (6), 4137-4144 (2000)
   PUBMED   10660574
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025678.7.
            On Jan 10, 2019 this sequence version replaced XP_006720503.1.
            
            Summary: The Golgi apparatus, which participates in glycosylation
            and transport of proteins and lipids in the secretory pathway,
            consists of a series of stacked, flattened membrane sacs referred
            to as cisternae. Interactions between the Golgi and microtubules
            are thought to be important for the reorganization of the Golgi
            after it fragments during mitosis. The golgins constitute a family
            of proteins which are localized to the Golgi. This gene encodes a
            golgin which structurally resembles its family member GOLGA2,
            suggesting that they may share a similar function. There are many
            similar copies of this gene on chromosome 15. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Mar
            2009].
            
            Transcript Variant: This variant (3), as well as variant 4, encodes
            isoform 2.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR14038192.3645049.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..602
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q14"
     Protein         1..602
                     /product="golgin subfamily A member 8A isoform 2"
                     /note="golgi autoantigen, golgin subfamily a, 8A; golgin
                     subfamily A member 8A; GM88 autoantigen; 88-kDa golgi
                     protein; golgin-67; 88 kDa Golgi matrix protein; Golgin
                     subfamily A member 8B"
                     /calculated_mol_wt=67005
     Region          1..82
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MQT2.2)"
     Region          <78..319
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          95..125
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MQT2.2)"
     Region          218..>396
                     /region_name="GOLGA2L5"
                     /note="Putative golgin subfamily A member 2-like protein
                     5; pfam15070"
                     /db_xref="CDD:434436"
     Region          397..418
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MQT2.2)"
     Region          459..491
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MQT2.2)"
     Region          490..602
                     /region_name="Golgi-targeting domain"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MQT2.2)"
     Region          557..602
                     /region_name="GM130_C"
                     /note="GM130 C-terminal binding motif; pfam19046"
                     /db_xref="CDD:436918"
     CDS             1..602
                     /gene="GOLGA8A"
                     /gene_synonym="CFAP286; FAP286; GM88; GOLGA8B"
                     /coded_by="NM_001368071.2:1623..3431"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS91979.1"
                     /db_xref="GeneID:23015"
                     /db_xref="HGNC:HGNC:31972"
                     /db_xref="MIM:616180"
ORIGIN      
        1 maeetgqskl aaakkkfkey wqrnrpgvpa aakrntkang sspetaasgg chsseasssa
       61 ssslharqsp cqeqaavlns rsikisrlnd tikslkqqkk qvehqleeek kannekqkae
      121 relegqiqrl ntekkklntd lyhmkhslry feeeskdlag rlqrssqrig elewslcava
      181 atqkkkpdgf ssrskallkr qleqsireqi llkghvtqlk eslkevqler dqyaeqikge
      241 raqwqqrmrk msqevctlke ekkhdthrve elerslsrlk nqmaeplppd apavssevel
      301 qdlrkelerv agelqaqven nqcisllnrg qkerlreqee rlqeqqerlr erekrlqqla
      361 epqsdleelh enksalqleq qvkelqeklg qvmetltsae kepeaavpas gtggessglm
      421 dlleekadlr ehveklelgf iqyrrerchq kvhrlltepg dsakdaspgg ghhqagpgqg
      481 geegeaagaa gdgvaacgsy seghgkflaa arnpaaepsp gapapqelga adkhgdlcea
      541 sltnsvepaq gearegssqd nptaqpvvql lgemqdhqeh pglgsnccvp cfcwawlprr
      601 rr
//
LOCUS       NP_037472                818 aa            linear   PRI 27-DEC-2022
DEFINITION  protocadherin beta-1 precursor [Homo sapiens].
ACCESSION   NP_037472
VERSION     NP_037472.2
DBSOURCE    REFSEQ: accession NM_013340.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 818)
  AUTHORS   Vanhalst K, Kools P, Vanden Eynde E and van Roy F.
  TITLE     The human and murine protocadherin-beta one-exon gene families show
            high evolutionary conservation, despite the difference in gene
            number
  JOURNAL   FEBS Lett 495 (1-2), 120-125 (2001)
   PUBMED   11322959
REFERENCE   2  (residues 1 to 818)
  AUTHORS   Wu Q, Zhang T, Cheng JF, Kim Y, Grimwood J, Schmutz J, Dickson M,
            Noonan JP, Zhang MQ, Myers RM and Maniatis T.
  TITLE     Comparative DNA sequence analysis of mouse and human protocadherin
            gene clusters
  JOURNAL   Genome Res 11 (3), 389-404 (2001)
   PUBMED   11230163
REFERENCE   3  (residues 1 to 818)
  AUTHORS   Nollet F, Kools P and van Roy F.
  TITLE     Phylogenetic analysis of the cadherin superfamily allows
            identification of six major subfamilies besides several solitary
            members
  JOURNAL   J Mol Biol 299 (3), 551-572 (2000)
   PUBMED   10835267
  REMARK    Review article
REFERENCE   4  (residues 1 to 818)
  AUTHORS   Yagi T and Takeichi M.
  TITLE     Cadherin superfamily genes: functions, genomic organization, and
            neurologic diversity
  JOURNAL   Genes Dev 14 (10), 1169-1180 (2000)
   PUBMED   10817752
  REMARK    Review article
REFERENCE   5  (residues 1 to 818)
  AUTHORS   Wu Q and Maniatis T.
  TITLE     Large exons encoding multiple ectodomains are a characteristic
            feature of protocadherin genes
  JOURNAL   Proc Natl Acad Sci U S A 97 (7), 3124-3129 (2000)
   PUBMED   10716726
REFERENCE   6  (residues 1 to 818)
  AUTHORS   Wu Q and Maniatis T.
  TITLE     A striking organization of a large family of human neural
            cadherin-like cell adhesion genes
  JOURNAL   Cell 97 (6), 779-790 (1999)
   PUBMED   10380929
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010223.6.
            This sequence is a reference standard in the RefSeqGene project.
            On May 24, 2001 this sequence version replaced NP_037472.1.
            
            Summary: This gene is a member of the protocadherin beta gene
            cluster, one of three related gene clusters tandemly linked on
            chromosome five. The gene clusters demonstrate an unusual genomic
            organization similar to that of B-cell and T-cell receptor gene
            clusters. The beta cluster contains 16 genes and 3 pseudogenes,
            each encoding 6 extracellular cadherin domains and a cytoplasmic
            tail that deviates from others in the cadherin superfamily. The
            extracellular domains interact in a homophilic manner to specify
            differential cell-cell connections. Unlike the alpha and gamma
            clusters, the transcripts from these genes are made up of only one
            large exon, not sharing common 3' exons as expected. These neural
            cadherin-like cell adhesion proteins are integral plasma membrane
            proteins. Their specific functions are unknown but they most likely
            play a critical role in the establishment and function of specific
            cell-cell neural connections. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC112096.1, AF152488.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306549.6/ ENSP00000307234.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     Protein         1..818
                     /product="protocadherin beta-1 precursor"
                     /note="PCDH-beta-1"
                     /calculated_mol_wt=87474
     sig_peptide     1..28
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3035
     mat_peptide     29..818
                     /product="Protocadherin beta-1. /id=PRO_0000003914"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5F3.2)"
                     /calculated_mol_wt=87474
     Region          30..110
                     /region_name="Cadherin_2"
                     /note="Cadherin-like; pfam08266"
                     /db_xref="CDD:400525"
     Region          140..238
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(144..145,201,203,234,236..237)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            169
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5F3.2)"
     Site            209
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5F3.2)"
     Region          246..343
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(253..254,308,310,339,341..342)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            257
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5F3.2)"
     Region          356..448
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(358..359,411,413,444,446..447)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            419
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5F3.2)"
     Region          456..558
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(463..464,521,523,554,556..557)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            568
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5F3.2)"
     Region          577..665
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Region          688..772
                     /region_name="Cadherin_C_2"
                     /note="Cadherin cytoplasmic C-terminal; pfam16492"
                     /db_xref="CDD:435374"
     Site            692..712
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5F3.2)"
     Region          789..818
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5F3.2)"
     CDS             1..818
                     /gene="PCDHB1"
                     /gene_synonym="PCDH-BETA1"
                     /coded_by="NM_013340.4:98..2554"
                     /db_xref="CCDS:CCDS4243.1"
                     /db_xref="GeneID:29930"
                     /db_xref="HGNC:HGNC:8680"
                     /db_xref="MIM:606327"
ORIGIN      
        1 magtrrkslq nrqvgsllif lcisvgdatt irysvaeeme sgsfvanvak dlglevgkla
       61 argarlvseg nkmhfrlhrk tgdlfvkekl dreslcgkad pcvlhfevvl veplqsfrae
      121 vrvfdindna pvflnkepll kipestplgs rfplqsaqdl dvglnglqny tlsangyfhl
      181 htrfcshgpk yaelvlnkpl dreeqpevnl titavdggsp pksgtahihv vvldvndhvp
      241 qfsrlvyraq vsenspngsl vatvtavdld egtnkaitys laqnpeailk tfqidpqnge
      301 vrlrgpldfe aietydidiq atdggglsah skvlvevvdv ndnppevmvs svssplpeds
      361 ppqtvvalft irdrdirvgg kvtcflredl pfvikptfgn syslvtdrsl dreevsgyni
      421 tivamdtgpp slsaetmiev lisdvndnpp ifredsyilt vrennspavf igkvhaedld
      481 lgenaqitys llppkngdls vfayisinsg ngklyalrtm dyeaiqdfqf vvkatdggfl
      541 slssqvtvrv vvlddndnrp milyplqngt lpcndlvprs aeagylvtkv vavdgdsgqn
      601 swlsyhllka tdlglfsvqr qngeihtlrq iserdpmmqk liilvqdhgq palsttvsln
      661 illvdgfsep ylqfqdptkh srkvnpstky lvislvilsf lfllsvivif iihvyqkiky
      721 rekftiqehf yddcnfsnnl vqgqgngsls rpcpyemcsa tgtgnsefrf lkrfmpnfpf
      781 phatgeikme agsslppnsd rnksqrlegh dqvsddym
//
LOCUS       NP_001284484             435 aa            linear   PRI 28-DEC-2022
DEFINITION  dual specificity mitogen-activated protein kinase kinase 7 isoform
            1 [Homo sapiens].
ACCESSION   NP_001284484 XP_005272546
VERSION     NP_001284484.1
DBSOURCE    REFSEQ: accession NM_001297555.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 435)
  AUTHORS   Laurin KM, Coutu-Beaudry K, Salazar A, Meribout N, Audet-Walsh E
            and Gravel SP.
  TITLE     Low expression of PGC-1beta and other mitochondrial biogenesis
            modulators in melanoma is associated with growth arrest and the
            induction of an immunosuppressive gene expression program dependent
            on MEK and IRF-1
  JOURNAL   Cancer Lett 541, 215738 (2022)
   PUBMED   35594996
  REMARK    GeneRIF: Low expression of PGC-1beta and other mitochondrial
            biogenesis modulators in melanoma is associated with growth arrest
            and the induction of an immunosuppressive gene expression program
            dependent on MEK and IRF-1.
REFERENCE   2  (residues 1 to 435)
  AUTHORS   Domen A, Paesschen CV, Zwaenepoel K, Lambin S, Pauwels P,
            Rasschaert M, Segelov E, Peeters M and Prenen H.
  TITLE     Excellent Response to MEK Inhibition in an AGK-BRAF Gene Fusion
            Driven Carcinoma: Case Report and Literature Review
  JOURNAL   Anticancer Res 42 (1), 373-379 (2022)
   PUBMED   34969747
  REMARK    GeneRIF: Excellent Response to MEK Inhibition in an AGK-BRAF Gene
            Fusion Driven Carcinoma: Case Report and Literature Review.
REFERENCE   3  (residues 1 to 435)
  AUTHORS   Sullivan RJ, Weber J, Patel S, Dummer R, Carlino MS, Tan DSW, Lebbe
            C, Siena S, Elez E, Wollenberg L, Pickard MD, Sandor V and Ascierto
            PA.
  TITLE     A Phase Ib/II Study of the BRAF Inhibitor Encorafenib Plus the MEK
            Inhibitor Binimetinib in Patients with BRAFV600E/K -mutant Solid
            Tumors
  JOURNAL   Clin Cancer Res 26 (19), 5102-5112 (2020)
   PUBMED   32669376
  REMARK    GeneRIF: A Phase Ib/II Study of the BRAF Inhibitor Encorafenib Plus
            the MEK Inhibitor Binimetinib in Patients with BRAF(V600E/K)
            -mutant Solid Tumors.
REFERENCE   4  (residues 1 to 435)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   5  (residues 1 to 435)
  AUTHORS   Luo MS, Huang GJ and Liu HB.
  TITLE     An autophagy-related model of 4 key genes for predicting prognosis
            of patients with laryngeal cancer
  JOURNAL   Medicine (Baltimore) 99 (30), e21163 (2020)
   PUBMED   32791689
  REMARK    GeneRIF: An autophagy-related model of 4 key genes for predicting
            prognosis of patients with laryngeal cancer.
REFERENCE   6  (residues 1 to 435)
  AUTHORS   Foltz IN, Gerl RE, Wieler JS, Luckach M, Salmon RA and Schrader JW.
  TITLE     Human mitogen-activated protein kinase kinase 7 (MKK7) is a highly
            conserved c-Jun N-terminal kinase/stress-activated protein kinase
            (JNK/SAPK) activated by environmental stresses and physiological
            stimuli
  JOURNAL   J Biol Chem 273 (15), 9344-9351 (1998)
   PUBMED   9535930
REFERENCE   7  (residues 1 to 435)
  AUTHORS   Wang Y, Su B, Sah VP, Brown JH, Han J and Chien KR.
  TITLE     Cardiac hypertrophy induced by mitogen-activated protein kinase
            kinase 7, a specific activator for c-Jun NH2-terminal kinase in
            ventricular muscle cells
  JOURNAL   J Biol Chem 273 (10), 5423-5426 (1998)
   PUBMED   9488659
REFERENCE   8  (residues 1 to 435)
  AUTHORS   Wu Z, Wu J, Jacinto E and Karin M.
  TITLE     Molecular cloning and characterization of human JNKK2, a novel Jun
            NH2-terminal kinase-specific kinase
  JOURNAL   Mol Cell Biol 17 (12), 7407-7416 (1997)
   PUBMED   9372971
REFERENCE   9  (residues 1 to 435)
  AUTHORS   Lu X, Nemoto S and Lin A.
  TITLE     Identification of c-Jun NH2-terminal protein kinase
            (JNK)-activating kinase 2 as an activator of JNK but not p38
  JOURNAL   J Biol Chem 272 (40), 24751-24754 (1997)
   PUBMED   9312068
REFERENCE   10 (residues 1 to 435)
  AUTHORS   Tournier C, Whitmarsh AJ, Cavanagh J, Barrett T and Davis RJ.
  TITLE     Mitogen-activated protein kinase kinase 7 is an activator of the
            c-Jun NH2-terminal kinase
  JOURNAL   Proc Natl Acad Sci U S A 94 (14), 7337-7342 (1997)
   PUBMED   9207092
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY063492.1, DQ445915.1,
            BC038295.2, AK300988.1, AK098807.1 and BF445461.1.
            On Jul 3, 2014 this sequence version replaced XP_005272546.1.
            
            Summary: The protein encoded by this gene is a dual specificity
            protein kinase that belongs to the MAP kinase kinase family. This
            kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this
            kinase itself is phosphorylated and activated by MAP kinase kinase
            kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and
            MAP4K2/GCK. This kinase is involved in the signal transduction
            mediating the cell responses to proinflammatory cytokines, and
            environmental stresses. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.572781.1,
                                           SRR3476690.1136777.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..435
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     Protein         1..435
                     /product="dual specificity mitogen-activated protein
                     kinase kinase 7 isoform 1"
                     /EC_number="2.7.12.2"
                     /note="MAP kinase kinase 7; JNK-activating kinase 2; dual
                     specificity mitogen-activated protein kinase kinase 7;
                     c-Jun N-terminal kinase kinase 2; MAPK/ERK kinase 7; SAPK
                     kinase 4; stress-activated protein kinase kinase 4"
                     /calculated_mol_wt=48940
     Region          120..416
                     /region_name="PKc_MKK7"
                     /note="Catalytic domain of the dual-specificity Protein
                     Kinase, Mitogen-activated protein Kinase Kinase 7;
                     cd06618"
                     /db_xref="CDD:270791"
     Site            order(142..146,150,163,165,196,212..215,217..218,221,259,
                     261..264,266,276..277,280,293..296,298,330,339)
                     /site_type="active"
                     /db_xref="CDD:270791"
     Site            order(142..146,148,150,163,165,196,212..215,217..218,
                     220..221,261,263..264,266,277)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270791"
     Site            order(145..146,259,261..263,280,293..296,298,330,339)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270791"
     Site            276..298
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270791"
     CDS             1..435
                     /gene="MAP2K7"
                     /gene_synonym="JNKK2; MAPKK7; MEK; MEK 7; MKK7; PRKMK7;
                     SAPKK-4; SAPKK4"
                     /coded_by="NM_001297555.2:69..1376"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS74277.1"
                     /db_xref="GeneID:5609"
                     /db_xref="HGNC:HGNC:6847"
                     /db_xref="MIM:603014"
ORIGIN      
        1 maassleqkl srleaklkqe nrearrridl nldispqrpr piivitlspa papsqraalq
       61 lplandggsr spssesspqh ptpparprhm lglpstlftp rsmesieidq klqeimkqtg
      121 yltiggqryq aeindlenlg emgsgtcgqv wkmrfrktgh viavkqmrrs gnkeenkril
      181 mdldvvlksh dcpyivqcfg tfitntdvfi amelmgtcae klkkrmqgpi perilgkmtv
      241 aivkalyylk ekhgvihrdv kpsnillder gqiklcdfgi sgrlvdskak trsagcaaym
      301 aperidppdp tkpdydirad vwslgislve latgqfpykn cktdfevltk vlqeeppllp
      361 ghmgfsgdfq sfvkdcltkd hrkrpkynkl lehsfikrye tlevdvaswf kdvmaktesp
      421 rtsgvlsqph lpffr
//
LOCUS       NP_001137446             745 aa            linear   PRI 29-DEC-2022
DEFINITION  neutral ceramidase isoform b [Homo sapiens].
ACCESSION   NP_001137446
VERSION     NP_001137446.1
DBSOURCE    REFSEQ: accession NM_001143974.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 745)
  AUTHORS   Simoes M, Saleh A, Choi YM, Airola MV, Haley JD and Coant N.
  TITLE     Measurement of neutral ceramidase activity in vitro and in vivo
  JOURNAL   Anal Biochem 643, 114577 (2022)
   PUBMED   35134389
  REMARK    GeneRIF: Measurement of neutral ceramidase activity in vitro and in
            vivo.
            Review article
REFERENCE   2  (residues 1 to 745)
  AUTHORS   Zhu H, Klement JD, Lu C, Redd PS, Yang D, Smith AD, Poschel DB, Zou
            J, Liu D, Wang PG, Ostrov D, Coant N, Hannun YA, Colby AH,
            Grinstaff MW and Liu K.
  TITLE     Asah2 Represses the p53-Hmox1 Axis to Protect Myeloid-Derived
            Suppressor Cells from Ferroptosis
  JOURNAL   J Immunol 206 (6), 1395-1404 (2021)
   PUBMED   33547170
  REMARK    GeneRIF: Asah2 Represses the p53-Hmox1 Axis to Protect
            Myeloid-Derived Suppressor Cells from Ferroptosis.
REFERENCE   3  (residues 1 to 745)
  AUTHORS   Coant N and Hannun YA.
  TITLE     Neutral ceramidase: Advances in mechanisms, cell regulation, and
            roles in cancer
  JOURNAL   Adv Biol Regul 71, 141-146 (2019)
   PUBMED   30389354
  REMARK    GeneRIF: Neutral ceramidase: Advances in mechanisms, cell
            regulation, and roles in cancer.
            Review article
REFERENCE   4  (residues 1 to 745)
  AUTHORS   Ohlsson L, Palmberg C, Duan RD, Olsson M, Bergman T and Nilsson A.
  TITLE     Purification and characterization of human intestinal neutral
            ceramidase
  JOURNAL   Biochimie 89 (8), 950-960 (2007)
   PUBMED   17475390
  REMARK    GeneRIF: the purification and characterization of neutral
            ceramidase from human ileostomy content, using
            octanoyl-[(14)C]sphingosine as substrate
REFERENCE   5  (residues 1 to 745)
  AUTHORS   Galadari S, Wu BX, Mao C, Roddy P, El Bawab S and Hannun YA.
  TITLE     Identification of a novel amidase motif in neutral ceramidase
  JOURNAL   Biochem J 393 (Pt 3), 687-695 (2006)
   PUBMED   16229686
  REMARK    GeneRIF: the present study identified a novel amidase sequence
            containing a critical serine residue that may function as a
            nucleophile in the hydrolytic attack on the amide bond present in
            ceramide
REFERENCE   6  (residues 1 to 745)
  AUTHORS   Hwang YH, Tani M, Nakagawa T, Okino N and Ito M.
  TITLE     Subcellular localization of human neutral ceramidase expressed in
            HEK293 cells
  JOURNAL   Biochem Biophys Res Commun 331 (1), 37-42 (2005)
   PUBMED   15845354
  REMARK    GeneRIF: Neutral ceramidase is localized mainly in plasma
            membranes.
REFERENCE   7  (residues 1 to 745)
  AUTHORS   Choi MS, Anderson MA, Zhang Z, Zimonjic DB, Popescu N and Mukherjee
            AB.
  TITLE     Neutral ceramidase gene: role in regulating ceramide-induced
            apoptosis
  JOURNAL   Gene 315, 113-122 (2003)
   PUBMED   14557071
REFERENCE   8  (residues 1 to 745)
  AUTHORS   Mitsutake S, Tani M, Okino N, Mori K, Ichinose S, Omori A, Iida H,
            Nakamura T and Ito M.
  TITLE     Purification, characterization, molecular cloning, and subcellular
            distribution of neutral ceramidase of rat kidney
  JOURNAL   J Biol Chem 276 (28), 26249-26259 (2001)
   PUBMED   11328816
REFERENCE   9  (residues 1 to 745)
  AUTHORS   El Bawab S, Birbes H, Roddy P, Szulc ZM, Bielawska A and Hannun YA.
  TITLE     Biochemical characterization of the reverse activity of rat brain
            ceramidase. A CoA-independent and fumonisin B1-insensitive ceramide
            synthase
  JOURNAL   J Biol Chem 276 (20), 16758-16766 (2001)
   PUBMED   11278489
REFERENCE   10 (residues 1 to 745)
  AUTHORS   El Bawab S, Roddy P, Qian T, Bielawska A, Lemasters JJ and Hannun
            YA.
  TITLE     Molecular cloning and characterization of a human mitochondrial
            ceramidase
  JOURNAL   J Biol Chem 275 (28), 21508-21513 (2000)
   PUBMED   10781606
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL450382.7.
            
            Summary: Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze
            hydrolysis of the N-acyl linkage of ceramide, a second messenger in
            a variety of cellular events, to produce sphingosine. Sphingosine
            exerts both mitogenic and apoptosis-inducing activities, and its
            phosphorylated form functions as an intra- and intercellular second
            messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed
            11328816]).[supplied by OMIM, Mar 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853560.3483.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..745
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.23"
     Protein         1..745
                     /product="neutral ceramidase isoform b"
                     /EC_number="3.5.1.23"
                     /note="mitochondrial ceramidase; neutral ceramidase;
                     non-lysosomal ceramidase; neutral/alkaline ceramidase;
                     N-acylsphingosine amidohydrolase (non-lysosomal
                     ceramidase) 2; acylsphingosine deacylase 2"
                     /calculated_mol_wt=81587
     Region          102..573
                     /region_name="Ceramidase_alk"
                     /note="Neutral/alkaline non-lysosomal ceramidase,
                     N-terminal; pfam04734"
                     /db_xref="CDD:428096"
     Region          575..742
                     /region_name="Ceramidse_alk_C"
                     /note="Neutral/alkaline non-lysosomal ceramidase,
                     C-terminal; pfam17048"
                     /db_xref="CDD:435710"
     CDS             1..745
                     /gene="ASAH2"
                     /gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
                     /coded_by="NM_001143974.3:159..2396"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="GeneID:56624"
                     /db_xref="HGNC:HGNC:18860"
                     /db_xref="MIM:611202"
ORIGIN      
        1 makrtfsnle tflifllvmm saitvallsl lfitsgtien hkdlgghffs ttqsppatqg
       61 staaqrstat qhstatqsst atqtspvplt pesplfqnfs gyhigvgrad ctgqvadinl
      121 mgygksgqna qgiltrlysr afimaepdgs nrtvfvsidi gmvsqrlrle vlnrlqskyg
      181 slyrrdnvil sgththsgpa gyfqytvfvi asegfsnqtf qhmvtgilks idiahtnmkp
      241 gkifinkgnv dgvqinrspy sylqnpqser aryssntdke mivlkmvdln gddlgliswf
      301 aihpvsmnns nhlvnsdnvg yasylleqek nkgylpgqgp fvaafassnl gdvspnilgp
      361 rcintgescd nanstcpigg psmciakgpg qdmfdstqii gramyqraks ktckpalgys
      421 faagtidgvg glnftqgkte gdpfwdtird qilgkpseei kechkpkpil lhtgelskph
      481 pwhpdivdvq iitlgslait aipgefttms grrlreavqa efashgmqnm tvvisglcnv
      541 ythyittyee yqaqryeaas tiygphtlsa yiqlfrnlak aiatdtvanl srgpeppffk
      601 qlivplipsi vdrapkgrtf gdvlqpakpe yrvgevaevi fvganpknsv qnqthqtflt
      661 vekyeatsts wqivcndasw etrfywhkgl lglsnatvew hipdtaqpgi yriryfghnr
      721 kqdilkpavi lsfegtspaf evvti
//
LOCUS       NP_001341383             245 aa            linear   PRI 30-DEC-2022
DEFINITION  phospholipid phosphatase 5 isoform 5 [Homo sapiens].
ACCESSION   NP_001341383
VERSION     NP_001341383.1
DBSOURCE    REFSEQ: accession NM_001354454.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 245)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 245)
  AUTHORS   Wu JC, Jia HL, Li ZR, Zhou KL, Qin LX, Dong QZ and Ren N.
  TITLE     Genomic aberrations in the HTPAP promoter affect tumor metastasis
            and clinical prognosis of hepatocellular carcinoma
  JOURNAL   PLoS One 9 (3), e90528 (2014)
   PUBMED   24603412
  REMARK    GeneRIF: genetic variants at loci -1053 and +64 of the HTPAP
            promoter affect the expression of HTPAP, which might be a novel
            determinant and target for HCC prognosis
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 245)
  AUTHORS   Mahmood SF, Gruel N, Nicolle R, Chapeaublanc E, Delattre O,
            Radvanyi F and Bernard-Pierrot I.
  TITLE     PPAPDC1B and WHSC1L1 are common drivers of the 8p11-12 amplicon,
            not only in breast tumors but also in pancreatic adenocarcinomas
            and lung tumors
  JOURNAL   Am J Pathol 183 (5), 1634-1644 (2013)
   PUBMED   24051013
  REMARK    GeneRIF: PPAPDC1B and WHSC1L1 played a major role in regulating the
            survival of breast cancer, pancreatic adenocarcinoma and small-cell
            lung cancer-derived cell lines.
REFERENCE   4  (residues 1 to 245)
  AUTHORS   Ren N, Wu JC, Dong QZ, Sun HJ, Jia HL, Li GC, Sun BS, Dai C, Shi J,
            Wei JW, Sheng YY, Zhou HJ, Ye QH and Qin LX.
  TITLE     Association of specific genotypes in metastatic suppressor HTPAP
            with tumor metastasis and clinical prognosis in hepatocellular
            carcinoma
  JOURNAL   Cancer Res 71 (9), 3278-3286 (2011)
   PUBMED   21531764
  REMARK    GeneRIF: Findings identify an HTPAP genotype and associated gene
            expression pattern that favors metastasis progression and that
            could be used to predict tumor metastasis and prognosis in HCC
            patients.
            Erratum:[Cancer Res. 2011 Jun 15;71(12):4325]
REFERENCE   5  (residues 1 to 245)
  AUTHORS   Dai C, Dong QZ, Ren N, Zhu JJ, Zhou HJ, Sun HJ, Wang G, Zhang XF,
            Xue YH, Jia HL, Ye QH and Qin LX.
  TITLE     Downregulation of HTPAP transcript variant 1 correlates with tumor
            metastasis and poor survival in patients with hepatocellular
            carcinoma
  JOURNAL   Cancer Sci 102 (3), 583-590 (2011)
   PUBMED   21219541
  REMARK    GeneRIF: HTPAP-1 may be the transcript of HTPAP to exhibit a
            suppressive role on hepatocellular cancer(HCC) metastasis, and can
            be a prognostic marker for HCC.
REFERENCE   6  (residues 1 to 245)
  AUTHORS   Bernard-Pierrot I, Gruel N, Stransky N, Vincent-Salomon A, Reyal F,
            Raynal V, Vallot C, Pierron G, Radvanyi F and Delattre O.
  TITLE     Characterization of the recurrent 8p11-12 amplicon identifies
            PPAPDC1B, a phosphatase protein, as a new therapeutic target in
            breast cancer
  JOURNAL   Cancer Res 68 (17), 7165-7175 (2008)
   PUBMED   18757432
  REMARK    GeneRIF: microarray experiments on PPAPDC1B knockdown indicated
            this gene interfered with cell signaling pathways, including
            Janus-activated kinase-signal transducer and activator of
            transcription, mitogen-activated protein kinase, and protein kinase
            C pathways
REFERENCE   7  (residues 1 to 245)
  AUTHORS   Takeuchi M, Harigai M, Momohara S, Ball E, Abe J, Furuichi K and
            Kamatani N.
  TITLE     Cloning and characterization of DPPL1 and DPPL2, representatives of
            a novel type of mammalian phosphatidate phosphatase
  JOURNAL   Gene 399 (2), 174-180 (2007)
   PUBMED   17590538
  REMARK    GeneRIF: DPPL1 and DPPL2 represent a novel type of mammalian
            phosphatidate phosphatase.
REFERENCE   8  (residues 1 to 245)
  AUTHORS   Wu X, Jia HL, Wang YF, Ren N, Ye QH, Sun HC, Wang L, Liu YK, Tang
            ZY and Qin LX.
  TITLE     HTPAP gene on chromosome 8p is a candidate metastasis suppressor
            for human hepatocellular carcinoma
  JOURNAL   Oncogene 25 (12), 1832-1840 (2006)
   PUBMED   16261160
  REMARK    GeneRIF: HTPAP is a novel metastatic suppressor gene for
            hepatocellular carcinoma
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087362.13.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.460855.1,
                                           ERR4873716.603877.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..245
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.23"
     Protein         1..245
                     /product="phospholipid phosphatase 5 isoform 5"
                     /EC_number="3.1.3.4"
                     /EC_number="3.6.1.75"
                     /note="diacylglycerol pyrophosphate like 1; phosphatidate
                     phosphatase PPAPDC1B; phosphatidic acid phosphatase type 2
                     domain-containing protein 1B; phosphatidic acid
                     phosphatase type 2 domain containing 1B; diacylglycerol
                     pyrophosphate phosphatase-like 1; testicular secretory
                     protein Li 38"
                     /calculated_mol_wt=27190
     Region          43..240
                     /region_name="PAP2_containing_1_like"
                     /note="PAP2, subfamily similar to human
                     phosphatidic_acid_phosphatase_type_2_domain_containing_1.
                     Most likely membrane-associated phosphatidic acid
                     phosphatases. Plant members of this group are
                     constitutively expressed in many tissues and exhibit
                     both...; cd03390"
                     /db_xref="CDD:239484"
     Site            order(137,144,179..181,231,237)
                     /site_type="active"
                     /db_xref="CDD:239484"
     CDS             1..245
                     /gene="PLPP5"
                     /gene_synonym="DPPL1; HTPAP; PPAPDC1B"
                     /coded_by="NM_001354454.2:26..763"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:84513"
                     /db_xref="HGNC:HGNC:25026"
                     /db_xref="MIM:610626"
ORIGIN      
        1 mgkaaaavaf gaevgvrlal faaflvtell ppfqrliqpe emwlyrnpyv eaeyfptkpm
       61 fvrgerssfl pphdpasrgh lcvfhpetaf viaflsplsl iflakflkka dtrdsrqacl
      121 aaslalalng vftntikliv grprpdffyr cfpdglahsd lmctgdkdvv negrksfpsg
      181 hssfafagla fasfylagkl hcftpqgrgk swrfcaflsp llfaavials rtcdykhhwq
      241 gpfkw
//
LOCUS       NP_001305654             518 aa            linear   PRI 30-DEC-2022
DEFINITION  kelch repeat and BTB domain-containing protein 4 isoform b [Homo
            sapiens].
ACCESSION   NP_001305654
VERSION     NP_001305654.1
DBSOURCE    REFSEQ: accession NM_001318725.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 518)
  AUTHORS   Chen Z, Ioris RM, Richardson S, Van Ess AN, Vendrell I, Kessler BM,
            Buffa FM, Busino L, Clifford SC, Bullock AN and D'Angiolella V.
  TITLE     Disease-associated KBTBD4 mutations in medulloblastoma elicit
            neomorphic ubiquitylation activity to promote CoREST degradation
  JOURNAL   Cell Death Differ 29 (10), 1955-1969 (2022)
   PUBMED   35379950
  REMARK    GeneRIF: Disease-associated KBTBD4 mutations in medulloblastoma
            elicit neomorphic ubiquitylation activity to promote CoREST
            degradation.
REFERENCE   2  (residues 1 to 518)
  AUTHORS   Uchida E, Sasaki A, Shirahata M, Suzuki T, Adachi JI, Mishima K,
            Yasuda M, Fujimaki T, Ichimura K and Nishikawa R.
  TITLE     Role of proliferative marker index and KBTBD4 mutation in the
            pathological diagnosis of pineal parenchymal tumors
  JOURNAL   Brain Tumor Pathol 39 (3), 130-138 (2022)
   PUBMED   35000018
  REMARK    GeneRIF: Role of proliferative marker index and KBTBD4 mutation in
            the pathological diagnosis of pineal parenchymal tumors.
REFERENCE   3  (residues 1 to 518)
  AUTHORS   Leal LF, Cavagna RO, Campanella NC, Mancano B, Almeida GC,
            Matsushita M, Almeida Junior CR, Saggioro F, Stavale JN, Malheiros
            SMF, Lima M, Hajj GNM, Neder L and Reis RM.
  TITLE     Lack of KBTBD4 Mutations in Molecularly Classified Brazilian
            Medulloblastomas
  JOURNAL   J Neuropathol Exp Neurol 78 (9), 788-790 (2019)
   PUBMED   31403685
  REMARK    GeneRIF: Our findings suggest that KBTBD4 mutations are uncommon in
            Brazilian MBGRP3 and MBGRP4 medulloblastomas subgroups.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104942.5 and KF459542.1.
            
            Transcript Variant: This variant (12) differs in the 5' UTR and
            coding sequence compared to variant 4. The resulting isoform (b) is
            shorter at the N-terminus compared to isoform c. Variants 2, 7, 8,
            10, 11, and 12 all encode the same isoform (b).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3515256.1,
                                           SRR18074967.161005.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..518
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..518
                     /product="kelch repeat and BTB domain-containing protein 4
                     isoform b"
                     /note="BTB and kelch domain containing 4; kelch repeat and
                     BTB domain-containing protein 4; BTB and kelch
                     domain-containing protein 4; kelch repeat and BTB (POZ)
                     domain containing 4"
                     /calculated_mol_wt=58013
     Region          13..152
                     /region_name="BTB_POZ_KBTBD4"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in Kelch repeat
                     and BTB domain-containing protein 4 (KBTBD4); cd18272"
                     /db_xref="CDD:349581"
     Region          47..479
                     /region_name="PHA03098"
                     /note="kelch-like protein; Provisional"
                     /db_xref="CDD:222983"
     Region          142..229
                     /region_name="BACK_KBTBD4"
                     /note="BACK (BTB and C-terminal Kelch) domain found in
                     Kelch repeat and BTB domain-containing protein 4 (KBTBD4);
                     cd18481"
                     /db_xref="CDD:350556"
     Region          239..285
                     /region_name="Kelch 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NVX7.3)"
     Region          279..314
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          286..328
                     /region_name="Kelch 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NVX7.3)"
     Region          318..365
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          331..378
                     /region_name="Kelch 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NVX7.3)"
     Region          368..414
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          380..430
                     /region_name="Kelch 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NVX7.3)"
     Region          422..467
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          432..481
                     /region_name="Kelch 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NVX7.3)"
     CDS             1..518
                     /gene="KBTBD4"
                     /gene_synonym="BKLHD4; HSPC252"
                     /coded_by="NM_001318725.2:117..1673"
                     /note="isoform b is encoded by transcript variant 12"
                     /db_xref="CCDS:CCDS7940.1"
                     /db_xref="GeneID:55709"
                     /db_xref="HGNC:HGNC:23761"
                     /db_xref="MIM:617645"
ORIGIN      
        1 mespeepgas mdenyfvnyt fkdrshsgrv aqgimklcle eelfadvtis vegrefqlhr
       61 lvlsaqscff rsmftsnlke ahnrvivlqd vsesvfqllv dyiyhgtvkl raeelqeiye
      121 vsdmyqltsl feecsrflar tvqvgnclqv mwladrhsdp elytaakhca kthlaqlqnt
      181 eeflhlphrl ltdiisdgvp csqnpteaie awinfnkeer eafaeslrts lkeigenvhi
      241 yligkessrt hslavslhca eddsisvsgq nslchqitaa ckhggdlyvv ggsiprrmwk
      301 cnnatvdwew caplprdrlq htlvsvpgkd aiyslggktl qdtlsnaviy yrvgdnvwte
      361 ttqlevavsg aaganlngii yllggeendl dfftkpsrli qcfdtetdkc hvkpyvlpfa
      421 grmhaavhkd lvfivaegds lvcynpllds ftrlclpeaw ssapslwkia scngsiyvfr
      481 drykkgdant ykldpatsav tvtrgikvll tnlqfvla
//
LOCUS       NP_001380543            1308 aa            linear   PRI 31-DEC-2022
DEFINITION  RIMS-binding protein 2 isoform h [Homo sapiens].
ACCESSION   NP_001380543
VERSION     NP_001380543.1
DBSOURCE    REFSEQ: accession NM_001393614.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1308)
  AUTHORS   Hollingworth P, Sweet R, Sims R, Harold D, Russo G, Abraham R,
            Stretton A, Jones N, Gerrish A, Chapman J, Ivanov D, Moskvina V,
            Lovestone S, Priotsi P, Lupton M, Brayne C, Gill M, Lawlor B, Lynch
            A, Craig D, McGuinness B, Johnston J, Holmes C, Livingston G, Bass
            NJ, Gurling H, McQuillin A, Holmans P, Jones L, Devlin B, Klei L,
            Barmada MM, Demirci FY, DeKosky ST, Lopez OL, Passmore P, Owen MJ,
            O'Donovan MC, Mayeux R, Kamboh MI and Williams J.
  CONSRTM   GERAD Consortium; National Institute on Aging Late-Onset
            Alzheimer's Disease Family Study Group
  TITLE     Genome-wide association study of Alzheimer's disease with psychotic
            symptoms
  JOURNAL   Mol Psychiatry 17 (12), 1316-1327 (2012)
   PUBMED   22005930
REFERENCE   2  (residues 1 to 1308)
  AUTHORS   Hendrickx A, Beullens M, Ceulemans H, Den Abt T, Van Eynde A,
            Nicolaescu E, Lesage B and Bollen M.
  TITLE     Docking motif-guided mapping of the interactome of protein
            phosphatase-1
  JOURNAL   Chem Biol 16 (4), 365-371 (2009)
   PUBMED   19389623
REFERENCE   3  (residues 1 to 1308)
  AUTHORS   Mittelstaedt T and Schoch S.
  TITLE     Structure and evolution of RIM-BP genes: identification of a novel
            family member
  JOURNAL   Gene 403 (1-2), 70-79 (2007)
   PUBMED   17855024
  REMARK    GeneRIF: RIMBP2 is identified in humans
REFERENCE   4  (residues 1 to 1308)
  AUTHORS   Guinn BA, Bland EA, Lodi U, Liggins AP, Tobal K, Petters S, Wells
            JW, Banham AH and Mufti GJ.
  TITLE     Humoral detection of leukaemia-associated antigens in presentation
            acute myeloid leukaemia
  JOURNAL   Biochem Biophys Res Commun 335 (4), 1293-1304 (2005)
   PUBMED   16112646
REFERENCE   5  (residues 1 to 1308)
  AUTHORS   Wang Y, Sugita S and Sudhof TC.
  TITLE     The RIM/NIM family of neuronal C2 domain proteins. Interactions
            with Rab3 and a new class of Src homology 3 domain proteins
  JOURNAL   J Biol Chem 275 (26), 20033-20044 (2000)
   PUBMED   10748113
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073912.38, AC095350.8 and AC063926.36.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1308
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     Protein         1..1308
                     /product="RIMS-binding protein 2 isoform h"
                     /note="RIM binding protein 2; protein phosphatase 1,
                     regulatory subunit 133"
                     /calculated_mol_wt=144131
     Region          24..>85
                     /region_name="DUF4200"
                     /note="Domain of unknown function (DUF4200); pfam13863"
                     /db_xref="CDD:433535"
     Region          188..248
                     /region_name="SH3_RIM-BP_1"
                     /note="First Src homology 3 domain of Rab3-interacting
                     molecules (RIMs) binding proteins; cd12014"
                     /db_xref="CDD:212947"
     Site            order(193,195,198,208,227..228,242,244..245)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212947"
     Region          317..394
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; smart00060"
                     /db_xref="CDD:214495"
     Site            order(393..394,396..397)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          410..473
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          504..590
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(504,573,588)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          1108..1169
                     /region_name="SH3_RIM-BP_2"
                     /note="Second Src homology 3 domain of Rab3-interacting
                     molecules (RIMs) binding proteins; cd12012"
                     /db_xref="CDD:212945"
     Site            order(1113,1115,1118,1130,1149..1150,1163,1165..1166)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212945"
     Region          1212..1272
                     /region_name="SH3_RIM-BP_3"
                     /note="Third Src homology 3 domain of Rab3-interacting
                     molecules (RIMs) binding proteins; cd12013"
                     /db_xref="CDD:212946"
     Site            order(1217,1219,1222,1233,1252..1253,1266,1268..1269)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212946"
     CDS             1..1308
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /coded_by="NM_001393614.1:430..4356"
                     /note="isoform h is encoded by transcript variant 10"
                     /db_xref="GeneID:23504"
                     /db_xref="HGNC:HGNC:30339"
                     /db_xref="MIM:611602"
ORIGIN      
        1 mreaaerrqq lqlehdqala vlsakqqeid llqkaqveak kehegavrll eskvreleek
       61 crtqseqfnl lsrdlekfrq hagkidllgg savapldist apskpfpqfm nglatslgkg
      121 qesaiggssa igeyirplpq pgdrpeplsa kptflsrsgs arcrsesdme nernsntskq
      181 rysgkvhlcv arysynpfdg pnenpeaelp ltagkylyvy gdmdedgfye gelldgqrgl
      241 vpsnfvdfvq dnesrlastl gneqdqnfin hsgiglegeh ildlhspthi dagitdnsag
      301 tldvniddig edivpyprki tlikqlaksv ivgweppavp pgwgtvssyn vlvdketrmn
      361 ltlgsrtkal ieklnmaact yrisvqcvts rgssdelqct llvgkdvvva pshlrvdnit
      421 qisaqlswlp tnsnyshvif lneeefdivk aarykyqffn lrpnmaykvk vlakphqmpw
      481 qlpleqrekk eafvefstlp agppappqdv tvqagvtpat irvswrppvl tptglsngan
      541 vtgygvyakg qrvaevifpt adstavelvr lrsleakgvt vrtlsaqges vdsavaavpp
      601 ellvpptphp rpapqskpla ssgvpetkde hlgpharmde aweqsrapgp vhghmleppv
      661 gpgrrspsps rilpqpqgtp vsttvakama reaaqrvaes srlekrsvfl erssagqyaa
      721 sdeedaydsp dfkrrgasvd dflkgselgk qphcchgdey htessrgsdl sdimeedeee
      781 lysemqledg grrrpsgtsh nalkdctdhr tsegtfweqp efphqphrkr lfsipevaee
      841 dgeccgllhk qgagpsprar tglareprpg rpyrgdeapr gswfpvkhrg sgavphvedf
      901 lledrgcrfs rsatrspdsg ldcgseedes rfgfgntvaa cspgpghcpc rrgprpllar
      961 rrtltrqssv eedfgeqvgp ggllrnddpq pgperppprk hgwgeptehq dfrgvwkksi
     1021 tmpdsraaap hakppprvaq gplilgnpas agrvdhmgrr fprgsagpqr srpvtvpsid
     1081 dygrdrlspd fyeesetdpg aeelparifv alfdydpltm spnpdaaeee lpfkegqiik
     1141 vygdkdadgf yrgetcarlg lipcnmvsei qaddeemmdq llrqgflpln tpvekiersr
     1201 rsgrrhsvst rrmvalydyd presspnvdv eaeltfctgd iitvfgeide dgfyygelng
     1261 qkglvpsnfl eevpddvevy lsdapshysq dtpmrskakr kksvhftp
//
LOCUS       NP_001381760             816 aa            linear   PRI 31-DEC-2022
DEFINITION  neuroligin-4, Y-linked isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001381760
VERSION     NP_001381760.1
DBSOURCE    REFSEQ: accession NM_001394831.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 816)
  AUTHORS   Nguyen TA, Wu K, Pandey S, Lehr AW, Li Y, Bemben MA, Badger JD 2nd,
            Lauzon JL, Wang T, Zaghloul KA, Thurm A, Jain M, Lu W and Roche KW.
  TITLE     A Cluster of Autism-Associated Variants on X-Linked NLGN4X
            Functionally Resemble NLGN4Y
  JOURNAL   Neuron 106 (5), 759-768 (2020)
   PUBMED   32243781
  REMARK    GeneRIF: A Cluster of Autism-Associated Variants on X-Linked NLGN4X
            Functionally Resemble NLGN4Y.
REFERENCE   2  (residues 1 to 816)
  AUTHORS   Bogaert AF, Skorska MN, Wang C, Gabrie J, MacNeil AJ, Hoffarth MR,
            VanderLaan DP, Zucker KJ and Blanchard R.
  TITLE     Male homosexuality and maternal immune responsivity to the Y-linked
            protein NLGN4Y
  JOURNAL   Proc Natl Acad Sci U S A 115 (2), 302-306 (2018)
   PUBMED   29229842
  REMARK    GeneRIF: Results suggest an association between a maternal immune
            response to neuroligin 4 Y-linked (NLGN4Y) and subsequent sexual
            orientation in male offspring.
            Erratum:[Proc Natl Acad Sci U S A. 2022 Aug 23;119(34):e2212767119.
            PMID: 35981140]
REFERENCE   3  (residues 1 to 816)
  AUTHORS   Gong Y, Wang L, Chippada-Venkata U, Dai X, Oh WK and Zhu J.
  TITLE     Constructing Bayesian networks by integrating gene expression and
            copy number data identifies NLGN4Y as a novel regulator of prostate
            cancer progression
  JOURNAL   Oncotarget 7 (42), 68688-68707 (2016)
   PUBMED   27626693
  REMARK    GeneRIF: Results suggest that NLGN4Y is an important negative
            regulator in prostate cancer progression.
REFERENCE   4  (residues 1 to 816)
  AUTHORS   Ross JL, Tartaglia N, Merry DE, Dalva M and Zinn AR.
  TITLE     Behavioral phenotypes in males with XYY and possible role of
            increased NLGN4Y expression in autism features
  JOURNAL   Genes Brain Behav 14 (2), 137-144 (2015)
   PUBMED   25558953
  REMARK    GeneRIF: Expression of NLGN4Y, a gene that may be involved in
            synaptic function, is increased in boys with XYY
REFERENCE   5  (residues 1 to 816)
  AUTHORS   Dinamarca MC, Weinstein D, Monasterio O and Inestrosa NC.
  TITLE     The synaptic protein neuroligin-1 interacts with the amyloid
            beta-peptide. Is there a role in Alzheimer's disease?
  JOURNAL   Biochemistry 50 (38), 8127-8137 (2011)
   PUBMED   21838267
REFERENCE   6  (residues 1 to 816)
  AUTHORS   Yamakawa H, Oyama S, Mitsuhashi H, Sasagawa N, Uchino S, Kohsaka S
            and Ishiura S.
  TITLE     Neuroligins 3 and 4X interact with syntrophin-gamma2, and the
            interactions are affected by autism-related mutations
  JOURNAL   Biochem Biophys Res Commun 355 (1), 41-46 (2007)
   PUBMED   17292328
REFERENCE   7  (residues 1 to 816)
  AUTHORS   Ylisaukko-oja T, Rehnstrom K, Auranen M, Vanhala R, Alen R, Kempas
            E, Ellonen P, Turunen JA, Makkonen I, Riikonen R, Nieminen-von
            Wendt T, von Wendt L, Peltonen L and Jarvela I.
  TITLE     Analysis of four neuroligin genes as candidates for autism
  JOURNAL   Eur J Hum Genet 13 (12), 1285-1292 (2005)
   PUBMED   16077734
  REMARK    GeneRIF: Neuroligin mutations most probably represent rare causes
            of autism; it is unlikely that the allelic variants in any of these
            genes would be major risk factors for autism.
REFERENCE   8  (residues 1 to 816)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   9  (residues 1 to 816)
  AUTHORS   Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC,
            Soderstrom H, Giros B, Leboyer M, Gillberg C and Bourgeron T.
  CONSRTM   Paris Autism Research International Sibpair Study
  TITLE     Mutations of the X-linked genes encoding neuroligins NLGN3 and
            NLGN4 are associated with autism
  JOURNAL   Nat Genet 34 (1), 27-29 (2003)
   PUBMED   12669065
REFERENCE   10 (residues 1 to 816)
  AUTHORS   Cantallops I and Cline HT.
  TITLE     Synapse formation: if it looks like a duck and quacks like a duck
            ...
  JOURNAL   Curr Biol 10 (17), R620-R623 (2000)
   PUBMED   10996085
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010726.4, AC010979.3,
            AC010879.2 and AC011903.4.
            
            Summary: This gene encodes a type I membrane protein that belongs
            to the family of neuroligins, which are cell adhesion molecules
            present at the postsynaptic side of the synapse, and may be
            essential for the formation of functional synapses. Alternatively
            spliced transcript variants have been found for this gene.[provided
            by RefSeq, Mar 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX537428.1, SRR18074969.2634672.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2147975
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..816
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.221"
     Protein         1..816
                     /product="neuroligin-4, Y-linked isoform 1 precursor"
                     /note="alternative HNL4Y"
                     /calculated_mol_wt=87194
     sig_peptide     1..43
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFZ3.1)"
                     /calculated_mol_wt=4845
     mat_peptide     44..816
                     /product="Neuroligin-4, Y-linked. /id=PRO_0000008649"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFZ3.1)"
                     /calculated_mol_wt=87194
     Region          44..590
                     /region_name="COesterase"
                     /note="Carboxylesterase family; pfam00135"
                     /db_xref="CDD:395084"
     Site            102
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFZ3.1)"
     Site            order(174..176,253..255,258,399,405..406,444,490,493)
                     /site_type="other"
                     /note="substrate binding pocket [chemical binding]"
                     /db_xref="CDD:238191"
     Site            order(254,375,489)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:238191"
     Region          359..364
                     /region_name="Interaction with NRXN1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFZ3.1)"
     Site            511
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NFZ3.1)"
     Region          636..659
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFZ3.1)"
     Site            677..697
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFZ3.1)"
     Site            712
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q62889; propagated from
                     UniProtKB/Swiss-Prot (Q8NFZ3.1)"
     CDS             1..816
                     /gene="NLGN4Y"
                     /gene_synonym="HNL4Y"
                     /coded_by="NM_001394831.1:520..2970"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 14"
                     /db_xref="CCDS:CCDS14788.1"
                     /db_xref="GeneID:22829"
                     /db_xref="HGNC:HGNC:15529"
                     /db_xref="MIM:400028"
ORIGIN      
        1 mlrpqgllwl pllftsvcvm lnsnvllwit alaikftlid sqaqypvvnt nygkiqglrt
       61 plpseilgpv eqylgvpyas pptgerrfqp pespsswtgi rnatqfsavc pqhlderfll
      121 hdmlpiwftt sldtlmtyvq dqnedclyln iyvpmeddih eqnskkpvmv yihggsymeg
      181 tgnmidgsil asygnvivit inyrlgilgf lstgdqaakg nyglldqiqa lrwieenvga
      241 fggdpkrvti fgsgagascv slltlshyse glfqkaiiqs gtalsswavn yqpakytril
      301 adkvgcnmld ttdmveclkn knykeliqqt itpatyhiaf gpvidgdvip ddpqilmeqg
      361 eflnydimlg vnqgeglkfv dgivdnedgv tpndfdfsvs nfvdnlygyp egkdtlreti
      421 kfmytdwadk enpetrrktl valftdhqwv apavatadlh aqygsptyfy afyhhcqsem
      481 kpswadsahg devpyvfgip migptelfsc nfskndvmls avvmtywtnf aktgdpnqpv
      541 pqdtkfihtk pnrfeevaws kynpkdqlyl higlkprvrd hyratkvafw lelvphlhnl
      601 neifqyvstt tkvpppdmts fpygtrrspa kiwpttkrpa itpannpkhs kdphktgped
      661 ttvlietkrd ystelsvtia vgasllflni lafaalyykk dkrrhethrh pspqrnttnd
      721 ithiqneeim slqmkqlehd heceslqahd tlrltcppdy tltlrrspdd ipfmtpntit
      781 mipntlmgmq plhtfktfsg gqnstnlphg hsttrv
//
LOCUS       NP_001305397             200 aa            linear   PRI 22-JAN-2023
DEFINITION  TSC22 domain family protein 3 isoform 1 [Homo sapiens].
ACCESSION   NP_001305397 XP_005262155
VERSION     NP_001305397.1
DBSOURCE    REFSEQ: accession NM_001318468.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 200)
  AUTHORS   Dankers W, Northcott M, Bennett T, D'Cruz A, Sherlock R, Gearing
            LJ, Hertzog P, Russ B, Miceli I, Scheer S, Fujishiro M, Hayakawa K,
            Ikeda K, Morand EF and Jones SA.
  TITLE     Type 1 interferon suppresses expression and glucocorticoid
            induction of glucocorticoid-induced leucine zipper (GILZ)
  JOURNAL   Front Immunol 13, 1034880 (2022)
   PUBMED   36505447
  REMARK    GeneRIF: Type 1 interferon suppresses expression and glucocorticoid
            induction of glucocorticoid-induced leucine zipper (GILZ).
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 200)
  AUTHORS   Mozaffari MS and Abdelsayed R.
  TITLE     Expression Profiles of GILZ and Annexin A1 in Human Oral
            Candidiasis and Lichen Planus
  JOURNAL   Cells 11 (9), 1470 (2022)
   PUBMED   35563776
  REMARK    GeneRIF: Expression Profiles of GILZ and Annexin A1 in Human Oral
            Candidiasis and Lichen Planus.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 200)
  AUTHORS   Flamini S, Sergeev P, Viana de Barros Z, Mello T, Biagioli M,
            Paglialunga M, Fiorucci C, Prikazchikova T, Pagano S, Gagliardi A,
            Riccardi C, Zatsepin T, Migliorati G, Bereshchenko O and Bruscoli
            S.
  TITLE     Glucocorticoid-induced leucine zipper regulates liver fibrosis by
            suppressing CCL2-mediated leukocyte recruitment
  JOURNAL   Cell Death Dis 12 (5), 421 (2021)
   PUBMED   33927191
  REMARK    GeneRIF: Glucocorticoid-induced leucine zipper regulates liver
            fibrosis by suppressing CCL2-mediated leukocyte recruitment.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 200)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 200)
  AUTHORS   Cheng Q, Fan H, Ngo D, Beaulieu E, Leung P, Lo CY, Burgess R, van
            der Zwan YG, White SJ, Khachigian LM, Hickey MJ and Morand EF.
  TITLE     GILZ overexpression inhibits endothelial cell adhesive function
            through regulation of NF-kappaB and MAPK activity
  JOURNAL   J Immunol 191 (1), 424-433 (2013)
   PUBMED   23729444
  REMARK    GeneRIF: Exogenous GILZ exerts inhibitory effects on endothelial
            cell adhesive function via a novel pathway involving modulation of
            NF-kappaB p65 DNA binding and MAPK activity.
REFERENCE   6  (residues 1 to 200)
  AUTHORS   Sugawara F, Yamada Y, Kuroe A, Someya Y, Kubota A, Ihara Y,
            Takahashi K and Seino Y.
  TITLE     Human TSC-22 gene: no association with type 2 diabetes
  JOURNAL   Intern Med 40 (10), 993-997 (2001)
   PUBMED   11688842
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 200)
  AUTHORS   Mittelstadt PR and Ashwell JD.
  TITLE     Inhibition of AP-1 by the glucocorticoid-inducible protein GILZ
  JOURNAL   J Biol Chem 276 (31), 29603-29610 (2001)
   PUBMED   11397794
REFERENCE   8  (residues 1 to 200)
  AUTHORS   Ayroldi E, Migliorati G, Bruscoli S, Marchetti C, Zollo O,
            Cannarile L, D'Adamio F and Riccardi C.
  TITLE     Modulation of T-cell activation by the glucocorticoid-induced
            leucine zipper factor via inhibition of nuclear factor kappaB
  JOURNAL   Blood 98 (3), 743-753 (2001)
   PUBMED   11468175
REFERENCE   9  (residues 1 to 200)
  AUTHORS   Cannarile,L., Zollo,O., D'Adamio,F., Ayroldi,E., Marchetti,C.,
            Tabilio,A., Bruscoli,S. and Riccardi,C.
  TITLE     Cloning, chromosomal assignment and tissue distribution of human
            GILZ, a glucocorticoid hormone-induced gene
  JOURNAL   Cell Death Differ 8 (2), 201-203 (2001)
   PUBMED   11313722
REFERENCE   10 (residues 1 to 200)
  AUTHORS   Vogel P, Magert HJ, Cieslak A, Adermann K and Forssmann WG.
  TITLE     hDIP--a potential transcriptional regulator related to murine
            TSC-22 and Drosophila shortsighted (shs)--is expressed in a large
            number of human tissues
  JOURNAL   Biochim Biophys Acta 1309 (3), 200-204 (1996)
   PUBMED   8982256
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA170687.1, BX647854.1 and
            CR933650.1.
            On Jan 8, 2016 this sequence version replaced XP_005262155.1.
            
            Summary: This gene encodes the anti-inflammatory protein
            glucocorticoid (GC)-induced leucine zipper. Expression of this gene
            stimulated by glucocorticoids and interleukin 10 and it appears to
            play a key role in the anti-inflammatory and immunosuppressive
            effects of this steroid. This protein has also been shown to
            inhibit pro-inflammatory molecules including nuclear factor
            &#954;B. Alternate splicing results in multiple transcript
            variants. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. Variants 1, 4 and 5 encode the same isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX647854.1, SRR1803615.80245.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..200
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.3"
     Protein         1..200
                     /product="TSC22 domain family protein 3 isoform 1"
                     /note="TSC-22 related protein; DSIP-immunoreactive leucine
                     zipper protein; glucocorticoid-induced leucine zipper
                     protein; TSC22 domain family protein 3; TSC-22-like
                     protein; delta sleep-inducing peptide immunoreactor;
                     DSIP-immunoreactive peptide"
                     /calculated_mol_wt=22082
     Region          123..200
                     /region_name="ZIP_TSC22D3"
                     /note="leucine zipper domain found in TSC22 domain family
                     protein 3; cd21940"
                     /db_xref="CDD:409280"
     Site            order(137..139,142,145..146,149..150,152..153,156..157,
                     159..160,163..164,167,171..172)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:409280"
     CDS             1..200
                     /gene="TSC22D3"
                     /gene_synonym="DIP; DSIPI; GILZ; TSC-22R"
                     /coded_by="NM_001318468.1:316..918"
                     /note="isoform 1 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS14530.1"
                     /db_xref="GeneID:1831"
                     /db_xref="HGNC:HGNC:3051"
                     /db_xref="MIM:300506"
ORIGIN      
        1 maqskldcrs pvgldccncc ldlahrsglq rgssgennnp gsptvsnfrq lqeklvfenl
       61 ntdklnsimr qdslepvlrd pcylinegic nrnidqtmls illffhsasg asvvaidnki
      121 eqamdlvknh lmyavreeve ilkeqirelv eknsqleren tllktlaspe qlekfqscls
      181 peepapespq vpeapggsav
//
LOCUS       NP_001380427             216 aa            linear   PRI 12-FEB-2023
DEFINITION  interleukin-34 isoform 4 [Homo sapiens].
ACCESSION   NP_001380427
VERSION     NP_001380427.1
DBSOURCE    REFSEQ: accession NM_001393498.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 216)
  AUTHORS   Lin M, Liu X, Zhang X, Wang H, Fang Y, Wu X, Yin A, Yang W, Zhang
            D, Li M, Zhang L and Ying S.
  TITLE     Sp1 Controls the Basal Level of Interleukin-34 Transcription
  JOURNAL   Immunol Invest 52 (2), 224-240 (2023)
   PUBMED   36562687
  REMARK    GeneRIF: Sp1 Controls the Basal Level of Interleukin-34
            Transcription.
REFERENCE   2  (residues 1 to 216)
  AUTHORS   Freuchet A, Salama A, Bezie S, Tesson L, Remy S, Humeau R, Regue H,
            Serazin C, Flippe L, Peterson P, Vimond N, Usal C, Menoret S,
            Heslan JM, Duteille F, Blanchard F, Giral M, Colonna M, Anegon I
            and Guillonneau C.
  TITLE     IL-34 deficiency impairs FOXP3+ Treg function in a model of
            autoimmune colitis and decreases immune tolerance homeostasis
  JOURNAL   Clin Transl Med 12 (8), e988 (2022)
   PUBMED   36030499
  REMARK    GeneRIF: IL-34 deficiency impairs FOXP3(+) Treg function in a model
            of autoimmune colitis and decreases immune tolerance homeostasis.
REFERENCE   3  (residues 1 to 216)
  AUTHORS   Almarghlani A, Settem RP, Croft AJ, Metcalfe S, Giangreco M and Kay
            JG.
  TITLE     Interleukin-34 permits Porphyromonas gingivalis survival and
            NF-kappaB p65 inhibition in macrophages
  JOURNAL   Mol Oral Microbiol 37 (3), 109-121 (2022)
   PUBMED   35576119
  REMARK    GeneRIF: Interleukin-34 permits Porphyromonas gingivalis survival
            and NF-kappaB p65 inhibition in macrophages.
REFERENCE   4  (residues 1 to 216)
  AUTHORS   Monteleone G, Franze E, Troncone E, Maresca C and Marafini I.
  TITLE     Interleukin-34 Mediates Cross-Talk Between Stromal Cells and Immune
            Cells in the Gut
  JOURNAL   Front Immunol 13, 873332 (2022)
   PUBMED   35529879
  REMARK    GeneRIF: Interleukin-34 Mediates Cross-Talk Between Stromal Cells
            and Immune Cells in the Gut.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 216)
  AUTHORS   Liu H, Jin F, Li Q, Gao Y, Liu X and Hou R.
  TITLE     IL-34 and coronary heart disease complicated with diabetes mellitus
  JOURNAL   Zhong Nan Da Xue Xue Bao Yi Xue Ban 46 (12), 1409-1414 (2021)
   PUBMED   35232912
  REMARK    GeneRIF: IL-34 and coronary heart disease complicated with diabetes
            mellitus.', trans 'IL-34.
REFERENCE   6  (residues 1 to 216)
  AUTHORS   Hwang SJ, Choi B, Kang SS, Chang JH, Kim YG, Chung YH, Sohn DH, So
            MW, Lee CK, Robinson WH and Chang EJ.
  TITLE     Interleukin-34 produced by human fibroblast-like synovial cells in
            rheumatoid arthritis supports osteoclastogenesis
  JOURNAL   Arthritis Res Ther 14 (1), R14 (2012)
   PUBMED   22264405
  REMARK    GeneRIF: Data suggest a discrete role of IL-34 in inflammatory
            rheumatoid arthritis (RA) diseases.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 216)
  AUTHORS   Chemel M, Le Goff B, Brion R, Cozic C, Berreur M, Amiaud J, Bougras
            G, Touchais S, Blanchard F, Heymann MF, Berthelot JM, Verrecchia F
            and Heymann D.
  TITLE     Interleukin 34 expression is associated with synovitis severity in
            rheumatoid arthritis patients
  JOURNAL   Ann Rheum Dis 71 (1), 150-154 (2012)
   PUBMED   22039170
  REMARK    GeneRIF: study identifies IL-34 expression in the synovial tissue
            of patients with arthritis; this cytokine, as a downstream effector
            of TNFalpha and IL-1beta, may contribute to inflammation and bone
            erosions in rheumatoid arthritis
REFERENCE   8  (residues 1 to 216)
  AUTHORS   Wei S, Nandi S, Chitu V, Yeung YG, Yu W, Huang M, Williams LT, Lin
            H and Stanley ER.
  TITLE     Functional overlap but differential expression of CSF-1 and IL-34
            in their CSF-1 receptor-mediated regulation of myeloid cells
  JOURNAL   J Leukoc Biol 88 (3), 495-505 (2010)
   PUBMED   20504948
  REMARK    GeneRIF: The different spatiotemporal expression of IL-34 and CSF-1
            allows for complementary activation of the CSF-1R in developing and
            adult tissues.
REFERENCE   9  (residues 1 to 216)
  AUTHORS   Lin H, Lee E, Hestir K, Leo C, Huang M, Bosch E, Halenbeck R, Wu G,
            Zhou A, Behrens D, Hollenbaugh D, Linnemann T, Qin M, Wong J, Chu
            K, Doberstein SK and Williams LT.
  TITLE     Discovery of a cytokine and its receptor by functional screening of
            the extracellular proteome
  JOURNAL   Science 320 (5877), 807-811 (2008)
   PUBMED   18467591
  REMARK    GeneRIF: Discovered IL-34 and its receptor CSF1 by functional
            screening of the extracellular proteome.
REFERENCE   10 (residues 1 to 216)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC020763.6.
            
            Summary: Interleukin-34 is a cytokine that promotes the
            differentiation and viability of monocytes and macrophages through
            the colony-stimulating factor-1 receptor (CSF1R; MIM 164770) (Lin
            et al., 2008 [PubMed 18467591]).[supplied by OMIM, May 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1660807.428881.1, SRR7410570.625196.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1966682, SAMEA2145240 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..216
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     Protein         1..216
                     /product="interleukin-34 isoform 4"
                     /calculated_mol_wt=24390
     Region          3..158
                     /region_name="IL34"
                     /note="Interleukin 34; pfam15036"
                     /db_xref="CDD:434409"
     CDS             1..216
                     /gene="IL34"
                     /gene_synonym="C16orf77; IL-34"
                     /coded_by="NM_001393498.1:367..1017"
                     /note="isoform 4 is encoded by transcript variant 9"
                     /db_xref="GeneID:146433"
                     /db_xref="HGNC:HGNC:28529"
                     /db_xref="MIM:612081"
ORIGIN      
        1 mwpltqneec tvtgflrdkl qyrsrlqymk hyfpinykis vpyegvfria nvtrlraqvs
       61 erelrylwvl vslsatesvq dvlleghpsw kylqevetll lnvqqgltdv evspkvesvl
      121 sllnapgpnl klvrpkalld ncfrvmelly cscckqssvl nwqdcevpsp qscspepslq
      181 yaatqlyppp pwspsspphs tgsvrpvraq gegllp
//
LOCUS       NP_001352416             279 aa            linear   PRI 21-FEB-2023
DEFINITION  acyl-coenzyme A oxidase-like protein isoform 2 [Homo sapiens].
ACCESSION   NP_001352416
VERSION     NP_001352416.1
DBSOURCE    REFSEQ: accession NM_001365487.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 279)
  AUTHORS   O'Hurley G, Busch C, Fagerberg L, Hallstrom BM, Stadler C, Tolf A,
            Lundberg E, Schwenk JM, Jirstrom K, Bjartell A, Gallagher WM, Uhlen
            M and Ponten F.
  TITLE     Analysis of the Human Prostate-Specific Proteome Defined by
            Transcriptomics and Antibody-Based Profiling Identifies TMEM79 and
            ACOXL as Two Putative, Diagnostic Markers in Prostate Cancer
  JOURNAL   PLoS One 10 (8), e0133449 (2015)
   PUBMED   26237329
  REMARK    GeneRIF: The study identified two proteins, TMEM79 and ACOXL, with
            potential to differentiate between benign and cancerous prostatic
            glands in tissue biopsies.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 279)
  AUTHORS   Figueiredo JC, Hsu L, Hutter CM, Lin Y, Campbell PT, Baron JA,
            Berndt SI, Jiao S, Casey G, Fortini B, Chan AT, Cotterchio M,
            Lemire M, Gallinger S, Harrison TA, Le Marchand L, Newcomb PA,
            Slattery ML, Caan BJ, Carlson CS, Zanke BW, Rosse SA, Brenner H,
            Giovannucci EL, Wu K, Chang-Claude J, Chanock SJ, Curtis KR, Duggan
            D, Gong J, Haile RW, Hayes RB, Hoffmeister M, Hopper JL, Jenkins
            MA, Kolonel LN, Qu C, Rudolph A, Schoen RE, Schumacher FR, Seminara
            D, Stelling DL, Thibodeau SN, Thornquist M, Warnick GS, Henderson
            BE, Ulrich CM, Gauderman WJ, Potter JD, White E and Peters U.
  CONSRTM   CCFR; GECCO
  TITLE     Genome-wide diet-gene interaction analyses for risk of colorectal
            cancer
  JOURNAL   PLoS Genet 10 (4), e1004228 (2014)
   PUBMED   24743840
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 279)
  AUTHORS   Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, Kochi Y, Ohmura
            K, Suzuki A, Yoshida S, Graham RR, Manoharan A, Ortmann W, Bhangale
            T, Denny JC, Carroll RJ, Eyler AE, Greenberg JD, Kremer JM, Pappas
            DA, Jiang L, Yin J, Ye L, Su DF, Yang J, Xie G, Keystone E, Westra
            HJ, Esko T, Metspalu A, Zhou X, Gupta N, Mirel D, Stahl EA, Diogo
            D, Cui J, Liao K, Guo MH, Myouzen K, Kawaguchi T, Coenen MJ, van
            Riel PL, van de Laar MA, Guchelaar HJ, Huizinga TW, Dieude P,
            Mariette X, Bridges SL Jr, Zhernakova A, Toes RE, Tak PP,
            Miceli-Richard C, Bang SY, Lee HS, Martin J, Gonzalez-Gay MA,
            Rodriguez-Rodriguez L, Rantapaa-Dahlqvist S, Arlestig L, Choi HK,
            Kamatani Y, Galan P, Lathrop M, Eyre S, Bowes J, Barton A, de Vries
            N, Moreland LW, Criswell LA, Karlson EW, Taniguchi A, Yamada R,
            Kubo M, Liu JS, Bae SC, Worthington J, Padyukov L, Klareskog L,
            Gregersen PK, Raychaudhuri S, Stranger BE, De Jager PL, Franke L,
            Visscher PM, Brown MA, Yamanaka H, Mimori T, Takahashi A, Xu H,
            Behrens TW, Siminovitch KA, Momohara S, Matsuda F, Yamamoto K and
            Plenge RM.
  CONSRTM   RACI consortium; GARNET consortium
  TITLE     Genetics of rheumatoid arthritis contributes to biology and drug
            discovery
  JOURNAL   Nature 506 (7488), 376-381 (2014)
   PUBMED   24390342
REFERENCE   4  (residues 1 to 279)
  AUTHORS   Speedy HE, Di Bernardo MC, Sava GP, Dyer MJ, Holroyd A, Wang Y,
            Sunter NJ, Mansouri L, Juliusson G, Smedby KE, Roos G, Jayne S,
            Majid A, Dearden C, Hall AG, Mainou-Fowler T, Jackson GH,
            Summerfield G, Harris RJ, Pettitt AR, Allsup DJ, Bailey JR, Pratt
            G, Pepper C, Fegan C, Rosenquist R, Catovsky D, Allan JM and
            Houlston RS.
  TITLE     A genome-wide association study identifies multiple susceptibility
            loci for chronic lymphocytic leukemia
  JOURNAL   Nat Genet 46 (1), 56-60 (2014)
   PUBMED   24292274
REFERENCE   5  (residues 1 to 279)
  AUTHORS   Berndt SI, Skibola CF, Joseph V, Camp NJ, Nieters A, Wang Z, Cozen
            W, Monnereau A, Wang SS, Kelly RS, Lan Q, Teras LR, Chatterjee N,
            Chung CC, Yeager M, Brooks-Wilson AR, Hartge P, Purdue MP, Birmann
            BM, Armstrong BK, Cocco P, Zhang Y, Severi G, Zeleniuch-Jacquotte
            A, Lawrence C, Burdette L, Yuenger J, Hutchinson A, Jacobs KB, Call
            TG, Shanafelt TD, Novak AJ, Kay NE, Liebow M, Wang AH, Smedby KE,
            Adami HO, Melbye M, Glimelius B, Chang ET, Glenn M, Curtin K,
            Cannon-Albright LA, Jones B, Diver WR, Link BK, Weiner GJ, Conde L,
            Bracci PM, Riby J, Holly EA, Smith MT, Jackson RD, Tinker LF,
            Benavente Y, Becker N, Boffetta P, Brennan P, Foretova L, Maynadie
            M, McKay J, Staines A, Rabe KG, Achenbach SJ, Vachon CM, Goldin LR,
            Strom SS, Lanasa MC, Spector LG, Leis JF, Cunningham JM, Weinberg
            JB, Morrison VA, Caporaso NE, Norman AD, Linet MS, De Roos AJ,
            Morton LM, Severson RK, Riboli E, Vineis P, Kaaks R, Trichopoulos
            D, Masala G, Weiderpass E, Chirlaque MD, Vermeulen RC, Travis RC,
            Giles GG, Albanes D, Virtamo J, Weinstein S, Clavel J, Zheng T,
            Holford TR, Offit K, Zelenetz A, Klein RJ, Spinelli JJ, Bertrand
            KA, Laden F, Giovannucci E, Kraft P, Kricker A, Turner J, Vajdic
            CM, Ennas MG, Ferri GM, Miligi L, Liang L, Sampson J, Crouch S,
            Park JH, North KE, Cox A, Snowden JA, Wright J, Carracedo A,
            Lopez-Otin C, Bea S, Salaverria I, Martin-Garcia D, Campo E,
            Fraumeni JF Jr, de Sanjose S, Hjalgrim H, Cerhan JR, Chanock SJ,
            Rothman N and Slager SL.
  TITLE     Genome-wide association study identifies multiple risk loci for
            chronic lymphocytic leukemia
  JOURNAL   Nat Genet 45 (8), 868-876 (2013)
   PUBMED   23770605
REFERENCE   6  (residues 1 to 279)
  AUTHORS   Okada Y, Hirota T, Kamatani Y, Takahashi A, Ohmiya H, Kumasaka N,
            Higasa K, Yamaguchi-Kabata Y, Hosono N, Nalls MA, Chen MH, van
            Rooij FJ, Smith AV, Tanaka T, Couper DJ, Zakai NA, Ferrucci L,
            Longo DL, Hernandez DG, Witteman JC, Harris TB, O'Donnell CJ,
            Ganesh SK, Matsuda K, Tsunoda T, Tanaka T, Kubo M, Nakamura Y,
            Tamari M, Yamamoto K and Kamatani N.
  TITLE     Identification of nine novel loci associated with white blood cell
            subtypes in a Japanese population
  JOURNAL   PLoS Genet 7 (6), e1002067 (2011)
   PUBMED   21738478
REFERENCE   7  (residues 1 to 279)
  AUTHORS   Lan Q, Au WY, Chanock S, Tse J, Wong KF, Shen M, Siu LP, Yuenger J,
            Yeager M, Hosgood HD 3rd, Purdue MP, Liang R and Rothman N.
  TITLE     Genetic susceptibility for chronic lymphocytic leukemia among
            Chinese in Hong Kong
  JOURNAL   Eur J Haematol 85 (6), 492-495 (2010)
   PUBMED   20731705
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 279)
  AUTHORS   Van Veldhoven PP.
  TITLE     Biochemistry and genetics of inherited disorders of peroxisomal
            fatty acid metabolism
  JOURNAL   J Lipid Res 51 (10), 2863-2895 (2010)
   PUBMED   20558530
  REMARK    Review article
REFERENCE   9  (residues 1 to 279)
  AUTHORS   Slager SL, Goldin LR, Strom SS, Lanasa MC, Spector LG, Rassenti L,
            Leis JF, Camp NJ, Kay NE, Vachon CM, Glenn M, Weinberg JB, Rabe KG,
            Cunningham JM, Achenbach SJ, Hanson CA, Marti GE, Call TG, Caporaso
            NE and Cerhan JR.
  TITLE     Genetic susceptibility variants for chronic lymphocytic leukemia
  JOURNAL   Cancer Epidemiol Biomarkers Prev 19 (4), 1098-1102 (2010)
   PUBMED   20332261
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (residues 1 to 279)
  AUTHORS   Di Bernardo MC, Crowther-Swanepoel D, Broderick P, Webb E, Sellick
            G, Wild R, Sullivan K, Vijayakrishnan J, Wang Y, Pittman AM, Sunter
            NJ, Hall AG, Dyer MJ, Matutes E, Dearden C, Mainou-Fowler T,
            Jackson GH, Summerfield G, Harris RJ, Pettitt AR, Hillmen P, Allsup
            DJ, Bailey JR, Pratt G, Pepper C, Fegan C, Allan JM, Catovsky D and
            Houlston RS.
  TITLE     A genome-wide association study identifies six susceptibility loci
            for chronic lymphocytic leukemia
  JOURNAL   Nat Genet 40 (10), 1204-1210 (2008)
   PUBMED   18758461
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY017683.1, BC022268.1, AK300513.1 and AC096591.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC022268.1, SRR18074967.2870029.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2147920
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..279
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q13"
     Protein         1..279
                     /product="acyl-coenzyme A oxidase-like protein isoform 2"
                     /note="acyl-coenzyme A oxidase-like protein; acyl-CoA
                     oxidase-like protein"
                     /calculated_mol_wt=30606
     Region          2..>261
                     /region_name="ACAD"
                     /note="Acyl-CoA dehydrogenase; cl09933"
                     /db_xref="CDD:447864"
     CDS             1..279
                     /gene="ACOXL"
                     /gene_synonym="ACOX4"
                     /coded_by="NM_001365487.2:225..1064"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS92841.1"
                     /db_xref="GeneID:55289"
                     /db_xref="HGNC:HGNC:25621"
ORIGIN      
        1 mraltvqrvk famdlpllkr agqdlaektk nfvsrslvig evlsmadmat gvkcgiiywl
       61 fggairnlgs pehvtkwfqp lqeqkytgmf amterghgsn argiqteatf dlsaqefvid
      121 tpcenaekmy ignamygnya avfaqliidg rsqgphcfiv pvrdengsly pgvtaidmmy
      181 keglhgvdng ilifdkvrip renlldkfgs vapdgqyhsp irnksarfna mlaaltpsrl
      241 avafqamgam klgltiairy shrsriisqn ccsapagly
//
LOCUS       NP_001027554             265 aa            linear   PRI 18-MAR-2023
DEFINITION  polyglutamine-binding protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_001027554
VERSION     NP_001027554.1
DBSOURCE    REFSEQ: accession NM_001032382.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 265)
  AUTHORS   Cheng S, Liu X, Yuan L, Wang N, Zhang ZC and Han J.
  TITLE     The role of PQBP1 in neural development and function
  JOURNAL   Biochem Soc Trans 51 (1), 363-372 (2023)
   PUBMED   36815699
  REMARK    GeneRIF: The role of PQBP1 in neural development and function.
            Review article
REFERENCE   2  (residues 1 to 265)
  AUTHORS   Tanaka H and Okazawa H.
  TITLE     PQBP1: The Key to Intellectual Disability, Neurodegenerative
            Diseases, and Innate Immunity
  JOURNAL   Int J Mol Sci 23 (11), 6227 (2022)
   PUBMED   35682906
  REMARK    GeneRIF: PQBP1: The Key to Intellectual Disability,
            Neurodegenerative Diseases, and Innate Immunity.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 265)
  AUTHORS   Jin M, Shiwaku H, Tanaka H, Obita T, Ohuchi S, Yoshioka Y, Jin X,
            Kondo K, Fujita K, Homma H, Nakajima K, Mizuguchi M and Okazawa H.
  TITLE     Tau activates microglia via the PQBP1-cGAS-STING pathway to promote
            brain inflammation
  JOURNAL   Nat Commun 12 (1), 6565 (2021)
   PUBMED   34782623
  REMARK    GeneRIF: Tau activates microglia via the PQBP1-cGAS-STING pathway
            to promote brain inflammation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 265)
  AUTHORS   Shen Y, Han J and Zhang ZC.
  TITLE     Novel regulation of the eEF2K/eEF2 pathway: prospects of 'PQBP1
            promotes translational elongation and regulates hippocampal
            mGluR-LTD by suppressing eEF2 phosphorylation'
  JOURNAL   J Mol Cell Biol 13 (5), 392-394 (2021)
   PUBMED   33734395
  REMARK    GeneRIF: Novel regulation of the eEF2K/eEF2 pathway: prospects of
            'PQBP1 promotes translational elongation and regulates hippocampal
            mGluR-LTD by suppressing eEF2 phosphorylation'.
REFERENCE   5  (residues 1 to 265)
  AUTHORS   Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C,
            O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M,
            Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J,
            Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M,
            Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray
            P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd
            R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de
            Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers
            HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau
            J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan
            E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF,
            Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE,
            Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA and
            Stratton MR.
  TITLE     A systematic, large-scale resequencing screen of X-chromosome
            coding exons in mental retardation
  JOURNAL   Nat Genet 41 (5), 535-543 (2009)
   PUBMED   19377476
REFERENCE   6  (residues 1 to 265)
  AUTHORS   Iwamoto K, Huang Y and Ueda S.
  TITLE     Genomic organization and alternative transcripts of the human
            PQBP-1 gene
  JOURNAL   Gene 259 (1-2), 69-73 (2000)
   PUBMED   11163963
REFERENCE   7  (residues 1 to 265)
  AUTHORS   Komuro A, Saeki M and Kato S.
  TITLE     Npw38, a novel nuclear protein possessing a WW domain capable of
            activating basal transcription
  JOURNAL   Nucleic Acids Res 27 (9), 1957-1965 (1999)
   PUBMED   10198427
REFERENCE   8  (residues 1 to 265)
  AUTHORS   Mulley JC, Kerr B, Stevenson R and Lubs H.
  TITLE     Nomenclature guidelines for X-linked mental retardation
  JOURNAL   Am J Med Genet 43 (1-2), 383-391 (1992)
   PUBMED   1605216
  REMARK    Review article
REFERENCE   9  (residues 1 to 265)
  AUTHORS   Arveiler B, Alembik Y, Hanauer A, Jacobs P, Tranebjaerg L,
            Mikkelsen M, Puissant H, Piet LL and Mandel JL.
  TITLE     Linkage analysis suggests at least two loci for X-linked
            non-specific mental retardation
  JOURNAL   Am J Med Genet 30 (1-2), 473-483 (1988)
   PUBMED   3177465
REFERENCE   10 (residues 1 to 265)
  AUTHORS   Fox,P., Fox,D. and Gerrard,J.W.
  TITLE     X-linked mental retardation: Renpenning revisited
  JOURNAL   Am J Med Genet 7 (4), 491-495 (1980)
   PUBMED   7211958
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN292761.1, AB016533.1 and
            BC012358.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a nuclear polyglutamine-binding protein
            that is involved with transcription activation. The encoded protein
            contains a WW domain. Mutations in this gene have been found in
            patients with Renpenning syndrome 1 and other syndromes with
            X-linked cognitive disability. Multiple alternatively spliced
            transcript variants that encode different protein isoforms have
            been described for this gene.[provided by RefSeq, Nov 2009].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 3, 4, and 5 all encode the same
            protein (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ242829.1, SRR11853558.25144.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000447146.7/ ENSP00000391759.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..265
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     Protein         1..265
                     /product="polyglutamine-binding protein 1 isoform 1"
                     /note="polyglutamine tract-binding protein 1; 38 kDa
                     nuclear protein containing a WW domain"
                     /calculated_mol_wt=30341
     Region          47..78
                     /region_name="WW"
                     /note="Domain with 2 conserved Trp (W) residues;
                     smart00456"
                     /db_xref="CDD:197736"
     Region          94..265
                     /region_name="Disordered.
                     /evidence=ECO:0000269|PubMed:19303059"
                     /note="propagated from UniProtKB/Swiss-Prot (O60828.1)"
     Site            94
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O60828.1)"
     Region          104..138
                     /region_name="5 X 7 AA approximate tandem repeats of
                     D-R-[SG]-H-D-K-S"
                     /note="propagated from UniProtKB/Swiss-Prot (O60828.1)"
     Region          139..144
                     /region_name="3 X 2 AA tandem repeats of [DE]-R"
                     /note="propagated from UniProtKB/Swiss-Prot (O60828.1)"
     Region          150..163
                     /region_name="7 X 2 AA tandem repeats of [DE]-R"
                     /note="propagated from UniProtKB/Swiss-Prot (O60828.1)"
     Region          245..255
                     /region_name="Important for interaction with TXNL4A"
                     /note="propagated from UniProtKB/Swiss-Prot (O60828.1)"
     Site            247
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O60828.1)"
     CDS             1..265
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /coded_by="NM_001032382.2:172..969"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS14309.1"
                     /db_xref="GeneID:10084"
                     /db_xref="HGNC:HGNC:9330"
                     /db_xref="MIM:300463"
ORIGIN      
        1 mplpvalqtr lakrgilkhl epepeeeiia edydddpvdy eatrleglpp swykvfdpsc
       61 glpyywnadt dlvswlsphd pnsvvtksak klrssnadae ekldrshdks drghdksdrs
      121 hekldrghdk sdrghdksdr drergydkvd rererdrerd rdrgydkadr eegkerrhhr
      181 reelapypks kkavsrkdee ldpmdpssys daprgtwstg lpkrneaktg adttaagplf
      241 qqrpypspga vlranaeasr tkqqd
//
LOCUS       NP_001274685             250 aa            linear   PRI 19-MAR-2023
DEFINITION  squalene synthase isoform 5 [Homo sapiens].
ACCESSION   NP_001274685 XP_005272437
VERSION     NP_001274685.1
DBSOURCE    REFSEQ: accession NM_001287756.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 250)
  AUTHORS   Jiang H, Tang E, Chen Y, Liu H, Zhao Y, Lin M and He L.
  TITLE     Squalene synthase predicts poor prognosis in stage I-III colon
            adenocarcinoma and synergizes squalene epoxidase to promote tumor
            progression
  JOURNAL   Cancer Sci 113 (3), 971-985 (2022)
   PUBMED   34939274
  REMARK    GeneRIF: Squalene synthase predicts poor prognosis in stage I-III
            colon adenocarcinoma and synergizes squalene epoxidase to promote
            tumor progression.
REFERENCE   2  (residues 1 to 250)
  AUTHORS   Nakae A, Kodama M, Okamoto T, Tokunaga M, Shimura H, Hashimoto K,
            Sawada K, Kodama T, Copeland NG, Jenkins NA and Kimura T.
  TITLE     Ubiquitin specific peptidase 32 acts as an oncogene in epithelial
            ovarian cancer by deubiquitylating farnesyl-diphosphate
            farnesyltransferase 1
  JOURNAL   Biochem Biophys Res Commun 552, 120-127 (2021)
   PUBMED   33744759
  REMARK    GeneRIF: Ubiquitin specific peptidase 32 acts as an oncogene in
            epithelial ovarian cancer by deubiquitylating farnesyl-diphosphate
            farnesyltransferase 1.
REFERENCE   3  (residues 1 to 250)
  AUTHORS   Weng ML, Chen WK, Chen XY, Lu H, Sun ZR, Yu Q, Sun PF, Xu YJ, Zhu
            MM, Jiang N, Zhang J, Zhang JP, Song YL, Ma D, Zhang XP and Miao
            CH.
  TITLE     Fasting inhibits aerobic glycolysis and proliferation in colorectal
            cancer via the Fdft1-mediated AKT/mTOR/HIF1alpha pathway
            suppression
  JOURNAL   Nat Commun 11 (1), 1869 (2020)
   PUBMED   32313017
  REMARK    GeneRIF: FDFT1 is a key downstream target of the fasting response
            and may be involved in CRC cell glucose metabolism.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 250)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 250)
  AUTHORS   Tuzmen S, Hostetter G, Watanabe A, Ekmekci C, Carrigan PE, Shechter
            I, Kallioniemi O, Miller LJ and Mousses S.
  TITLE     Characterization of farnesyl diphosphate farnesyl transferase 1
            (FDFT1) expression in cancer
  JOURNAL   Per Med 16 (1), 51-65 (2019)
   PUBMED   30468409
  REMARK    GeneRIF: We have demonstrated the differential relative expression
            levels of FDFT1 mRNA and protein in various types of cancer based
            on TMAs and IHC for protein expression, and qPCR analysis for the
            illustration of mRNA expression.
REFERENCE   6  (residues 1 to 250)
  AUTHORS   Guan G, Jiang G, Koch RL and Shechter I.
  TITLE     Molecular cloning and functional analysis of the promoter of the
            human squalene synthase gene
  JOURNAL   J Biol Chem 270 (37), 21958-21965 (1995)
   PUBMED   7665618
REFERENCE   7  (residues 1 to 250)
  AUTHORS   Soltis DA, McMahon G, Caplan SL, Dudas DA, Chamberlin HA, Vattay A,
            Dottavio D, Rucker ML, Engstrom RG, Cornell-Kennon SA et al.
  TITLE     Expression, purification, and characterization of the human
            squalene synthase: use of yeast and baculoviral systems
  JOURNAL   Arch Biochem Biophys 316 (2), 713-723 (1995)
   PUBMED   7864626
REFERENCE   8  (residues 1 to 250)
  AUTHORS   Shechter I, Conrad DG, Hart I, Berger RC, McKenzie TL, Bleskan J
            and Patterson D.
  TITLE     Localization of the squalene synthase gene (FDFT1) to human
            chromosome 8p22-p23.1
  JOURNAL   Genomics 20 (1), 116-118 (1994)
   PUBMED   8020937
REFERENCE   9  (residues 1 to 250)
  AUTHORS   Jiang G, McKenzie TL, Conrad DG and Shechter I.
  TITLE     Transcriptional regulation by lovastatin and 25-hydroxycholesterol
            in HepG2 cells and molecular cloning and expression of the cDNA for
            the human hepatic squalene synthase
  JOURNAL   J Biol Chem 268 (17), 12818-12824 (1993)
   PUBMED   7685352
REFERENCE   10 (residues 1 to 250)
  AUTHORS   Coman,D., Vissers,L., Waterham,H., Christodoulou,J., Wevers,R.A.
            and Pitt,J.
  TITLE     Squalene Synthase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   32027475
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC069185.7.
            On Dec 19, 2013 this sequence version replaced XP_005272437.1.
            
            Summary: This gene encodes a membrane-associated enzyme located at
            a branch point in the mevalonate pathway. The encoded protein is
            the first specific enzyme in cholesterol biosynthesis, catalyzing
            the dimerization of two molecules of farnesyl diphosphate in a
            two-step reaction to form squalene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (11) differs at the 5' end, lacks
            several internal exons, uses alternate donor and acceptor splice
            sites, and initiates translation from an alternate start codon
            compared to variant 1. The resulting shorter isoform (5) has a
            distinct N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK301617.1, SRR12514508.735572.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..250
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     Protein         1..250
                     /product="squalene synthase isoform 5"
                     /EC_number="2.5.1.21"
                     /note="presqualene-di-diphosphate synthase; squalene
                     synthase; FPP:FPP farnesyltransferase; squalene
                     synthetase"
                     /calculated_mol_wt=28398
     Region          <22..203
                     /region_name="Isoprenoid_Biosyn_C1"
                     /note="Isoprenoid Biosynthesis enzymes, Class 1; cl00210"
                     /db_xref="CDD:444751"
     Site            48..56
                     /site_type="other"
                     /note="aspartate-rich region 2"
                     /db_xref="CDD:173830"
     CDS             1..250
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /coded_by="NM_001287756.2:107..859"
                     /note="isoform 5 is encoded by transcript variant 11"
                     /db_xref="GeneID:2222"
                     /db_xref="HGNC:HGNC:3629"
                     /db_xref="MIM:184420"
ORIGIN      
        1 mpwpprrvlq pgalpdrgqa easefedplv gedteransm glflqktnii rdyledqqgg
       61 refwpqevws ryvkklgdfa kpenidlavq clnelitnal hhipdvityl srlrnqsvfn
      121 fcaipqvmai atlaacynnq qvfkgavkir kgqavtlmmd atnmpavkai iyqymeeiyh
      181 ripdsdpsss ktrqiistir tqnlpncqli srshyspiyl sfvmllaals wqylttlsqv
      241 tedyvqtgeh
//
LOCUS       NP_001269891             694 aa            linear   PRI 19-MAR-2023
DEFINITION  Holliday junction recognition protein isoform b [Homo sapiens].
ACCESSION   NP_001269891 XP_005246150
VERSION     NP_001269891.1
DBSOURCE    REFSEQ: accession NM_001282962.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 694)
  AUTHORS   Zhang Y, Zhang W, Sun L, Yue Y, Shen D, Tian B, Du M, Dong M, Liu Y
            and Zhang D.
  TITLE     HJURP inhibits proliferation of ovarian cancer cells by regulating
            CENP-A/CENP-N
  JOURNAL   Bull Cancer 109 (10), 1007-1016 (2022)
   PUBMED   35940943
  REMARK    GeneRIF: HJURP inhibits proliferation of ovarian cancer cells by
            regulating CENP-A/CENP-N.
REFERENCE   2  (residues 1 to 694)
  AUTHORS   Mao M, Jia Y, Chen Y, Yang J, Xu L, Zhang X, Zhou J, Li Z, Chen C,
            Ju S and Wang L.
  TITLE     HJURP regulates cell proliferation and chemo-resistance via
            YAP1/NDRG1 transcriptional axis in triple-negative breast cancer
  JOURNAL   Cell Death Dis 13 (4), 396 (2022)
   PUBMED   35459269
  REMARK    GeneRIF: HJURP regulates cell proliferation and chemo-resistance
            via YAP1/NDRG1 transcriptional axis in triple-negative breast
            cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 694)
  AUTHORS   Tsevegjav B, Takano A, Zhu M, Yoshitake Y, Shinohara M and Daigo Y.
  TITLE     Holliday junction recognition protein as a prognostic biomarker and
            therapeutic target for oral cancer
  JOURNAL   Int J Oncol 60 (3) (2022)
   PUBMED   35103286
  REMARK    GeneRIF: Holliday junction recognition protein as a prognostic
            biomarker and therapeutic target for oral cancer.
REFERENCE   4  (residues 1 to 694)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   5  (residues 1 to 694)
  AUTHORS   Wang DW, Yang ZS, Xu J, Yang LJ, Yang TC, Wang HQ, Feng MH and Su
            F.
  TITLE     Identification of Prognostic Genes for Colon Cancer through Gene
            Co-expression Network Analysis
  JOURNAL   Curr Med Sci 41 (5), 1012-1022 (2021)
   PUBMED   34542829
  REMARK    GeneRIF: Identification of Prognostic Genes for Colon Cancer
            through Gene Co-expression Network Analysis.
REFERENCE   6  (residues 1 to 694)
  AUTHORS   Dunleavy EM, Roche D, Tagami H, Lacoste N, Ray-Gallet D, Nakamura
            Y, Daigo Y, Nakatani Y and Almouzni-Pettinotti G.
  TITLE     HJURP is a cell-cycle-dependent maintenance and deposition factor
            of CENP-A at centromeres
  JOURNAL   Cell 137 (3), 485-497 (2009)
   PUBMED   19410545
  REMARK    GeneRIF: HJURP is a key factor for CENP-A deposition and
            maintenance at centromeres
REFERENCE   7  (residues 1 to 694)
  AUTHORS   Foltz DR, Jansen LE, Bailey AO, Yates JR 3rd, Bassett EA, Wood S,
            Black BE and Cleveland DW.
  TITLE     Centromere-specific assembly of CENP-a nucleosomes is mediated by
            HJURP
  JOURNAL   Cell 137 (3), 472-484 (2009)
   PUBMED   19410544
  REMARK    GeneRIF: HJURP is a possible cell-cycle-regulated CENP-A-specific
            histone chaperone required for centromeric chromatin assembly
REFERENCE   8  (residues 1 to 694)
  AUTHORS   Kato T, Sato N, Hayama S, Yamabuki T, Ito T, Miyamoto M, Kondo S,
            Nakamura Y and Daigo Y.
  TITLE     Activation of Holliday junction recognizing protein involved in the
            chromosomal stability and immortality of cancer cells
  JOURNAL   Cancer Res 67 (18), 8544-8553 (2007)
   PUBMED   17823411
REFERENCE   9  (residues 1 to 694)
  AUTHORS   Foltz DR, Jansen LE, Black BE, Bailey AO, Yates JR 3rd and
            Cleveland DW.
  TITLE     The human CENP-A centromeric nucleosome-associated complex
  JOURNAL   Nat Cell Biol 8 (5), 458-469 (2006)
   PUBMED   16622419
  REMARK    GeneRIF: hFLEG1 is associated with the CENP-A centromeric
            nucleosome
REFERENCE   10 (residues 1 to 694)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB101211.1, DB022872.1, AK303109.1, BM838206.1, DN998761.1,
            CA441903.1, CF619091.1 and DB319863.1.
            On Sep 24, 2013 this sequence version replaced XP_005246150.1.
            
            Transcript Variant: This variant (2) lacks two alternate exons that
            result in the loss of an in-frame segment in the 5' coding region,
            compared to variant 1. The encoded isoform (b) is shorter than
            isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK303109.1, SRR14038192.1510870.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..694
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     Protein         1..694
                     /product="Holliday junction recognition protein isoform b"
                     /note="fetal liver expressing gene 1; up-regulated in lung
                     cancer 9; 14-3-3-associated AKT substrate; fetal
                     liver-expressing gene 1 protein"
                     /calculated_mol_wt=77840
     Region          217..331
                     /region_name="HJURP_mid"
                     /note="Holliday junction recognition protein-associated
                     repeat; pfam12346"
                     /db_xref="CDD:372060"
     Region          355..416
                     /region_name="HJURP_C"
                     /note="Holliday junction regulator protein family
                     C-terminal repeat; pfam12347"
                     /db_xref="CDD:432495"
     Region          500..559
                     /region_name="HJURP_C"
                     /note="Holliday junction regulator protein family
                     C-terminal repeat; pfam12347"
                     /db_xref="CDD:432495"
     CDS             1..694
                     /gene="HJURP"
                     /gene_synonym="FAKTS; hFLEG1; URLC9"
                     /coded_by="NM_001282962.2:36..2120"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS63167.1"
                     /db_xref="GeneID:55355"
                     /db_xref="HGNC:HGNC:25444"
                     /db_xref="MIM:612667"
ORIGIN      
        1 mlgtlrameg edveddqllq klrasrrrfq rrmqrlieky nqpfedtpvv qmatltyetp
       61 qglriwggrl ikernegeiq pavpqsplkn elrrkyltqv dillqgaeyf ecagnragrd
      121 vrvtplpsla spavpapgyc srisrkspgd pakpasspre wdplhpsstd malvprndsl
      181 slqetssssf lssqpfeddd icnvtisdly agmlhsmsrl lstkpssiis tktfimqnwn
      241 srrrhryksr mnktyckgar rsqrsskenf ipcsepvkgt galrdcknvl dvscrktglk
      301 lekaflevnr pqihkldpsw kerkvtpsky ssliyfdssa tynldeenrf rtlkwlispv
      361 kivsrptirq ghgenrqrei eirfdqlhre yclsprnqpr rmclpdswam nmyrggpasp
      421 gglqgletrr lslpsskaka kslseafenl gkrsleagrc lpksdssssl pktnpthsat
      481 rpqqtsdlhv qgnssgifrk svspsktlsv pdkevpghgr nrydeikeef dklhqkyclk
      541 spgqmtvplc igvstdkasm evryqtegfl gklnpdphfq gfqklpsspl gcrksllgst
      601 aieapsstcv araitrdgtr dhqfpakrpr lsepqgsgrq gnslgasdgv dntvrpgdqg
      661 sssqpnseer gentsyrmee ksdfmlekle tksv
//
LOCUS       NP_001186883             375 aa            linear   PRI 19-MAR-2023
DEFINITION  actin, cytoplasmic 2 [Homo sapiens].
ACCESSION   NP_001186883
VERSION     NP_001186883.1
DBSOURCE    REFSEQ: accession NM_001199954.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 375)
  AUTHORS   Tang Y, Peng X, Huang X and Li J.
  TITLE     Actin gamma 1 is a critical regulator of pancreatic ductal
            adenocarcinoma
  JOURNAL   Saudi J Gastroenterol 28 (3), 239-246 (2022)
   PUBMED   34856725
  REMARK    GeneRIF: Actin gamma 1 is a critical regulator of pancreatic ductal
            adenocarcinoma.
REFERENCE   2  (residues 1 to 375)
  AUTHORS   Dawidziuk M, Kutkowska-Kazmierczak A, Bukowska-Olech E, Jurek M,
            Kalka E, Guilbride DL, Furmanek MI, Bekiesinska-Figatowska M, Bal J
            and Gawlinski P.
  TITLE     De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial
            Deafness and Baraitser-Winter Syndrome
  JOURNAL   Int J Mol Sci 23 (2), 692 (2022)
   PUBMED   35054877
  REMARK    GeneRIF: De Novo ACTG1 Variant Expands the Phenotype and Genotype
            of Partial Deafness and Baraitser-Winter Syndrome.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 375)
  AUTHORS   Xiao L, Peng H, Yan M and Chen S.
  TITLE     Silencing ACTG1 Expression Induces Prostate Cancer Epithelial
            Mesenchymal Transition Through MAPK/ERK Signaling Pathway
  JOURNAL   DNA Cell Biol 40 (11), 1445-1455 (2021)
   PUBMED   34767732
  REMARK    GeneRIF: Silencing ACTG1 Expression Induces Prostate Cancer
            Epithelial Mesenchymal Transition Through MAPK/ERK Signaling
            Pathway.
REFERENCE   4  (residues 1 to 375)
  AUTHORS   Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh
            L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N,
            Cao-Van H and Paoloni-Giacobino A.
  TITLE     Benefits of Exome Sequencing in Children with Suspected Isolated
            Hearing Loss
  JOURNAL   Genes (Basel) 12 (8), 1277 (2021)
   PUBMED   34440452
  REMARK    GeneRIF: Benefits of Exome Sequencing in Children with Suspected
            Isolated Hearing Loss.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 375)
  AUTHORS   Verloes,A., Drunat,S., Pilz,D. and Di Donato,N.
  TITLE     Baraitser-Winter Cerebrofrontofacial Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26583190
REFERENCE   6  (residues 1 to 375)
  AUTHORS   Shearer,A.E., Hildebrand,M.S. and Smith,R.J.H.
  TITLE     Hereditary Hearing Loss and Deafness Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
REFERENCE   7  (residues 1 to 375)
  AUTHORS   Rodriguez Del Castillo A, Vitale ML and Trifaro JM.
  TITLE     Ca2+ and pH determine the interaction of chromaffin cell scinderin
            with phosphatidylserine and phosphatidylinositol 4,5,-biphosphate
            and its cellular distribution during nicotinic-receptor stimulation
            and protein kinase C activation
  JOURNAL   J Cell Biol 119 (4), 797-810 (1992)
   PUBMED   1331119
REFERENCE   8  (residues 1 to 375)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   9  (residues 1 to 375)
  AUTHORS   Erba HP, Eddy R, Shows T, Kedes L and Gunning P.
  TITLE     Structure, chromosome location, and expression of the human
            gamma-actin gene: differential evolution, location, and expression
            of the cytoskeletal beta- and gamma-actin genes
  JOURNAL   Mol Cell Biol 8 (4), 1775-1789 (1988)
   PUBMED   2837653
REFERENCE   10 (residues 1 to 375)
  AUTHORS   Vandekerckhove J, Schering B, Barmann M and Aktories K.
  TITLE     Botulinum C2 toxin ADP-ribosylates cytoplasmic beta/gamma-actin in
            arginine 177
  JOURNAL   J Biol Chem 263 (2), 696-700 (1988)
   PUBMED   3335520
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139149.6 and BC063495.1.
            
            Summary: Actins are highly conserved proteins that are involved in
            various types of cell motility and in maintenance of the
            cytoskeleton. Three main groups of actin isoforms have been
            identified in vertebrate animals: alpha, beta, and gamma. The alpha
            actins are found in muscle tissues and are a major constituent of
            the contractile apparatus. The beta and gamma actins co-exist in
            most cell types as components of the cytoskeleton and as mediators
            of internal cell motility. Actin gamma 1, encoded by this gene, is
            a cytoplasmic actin found in all cell types. Mutations in this gene
            are associated with DFNA20/26, a subtype of autosomal dominant
            non-syndromic sensorineural progressive hearing loss and also with
            Baraitser-Winter syndrome. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jul 2017].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853558.11394.1,
                                           SRR18074969.2731277.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..375
                     /product="actin, cytoplasmic 2"
                     /note="cytoskeletal gamma-actin; epididymis luminal
                     protein 176"
                     /calculated_mol_wt=41662
     Region          1..375
                     /region_name="PTZ00281"
                     /note="actin; Provisional"
                     /db_xref="CDD:173506"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000269|PubMed:36173861,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (P63261.1)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylglutamate, in Actin, cytoplasmic 2,
                     N-terminally processed, partial.
                     /evidence=ECO:0000269|PubMed:29581253,
                     ECO:0000269|PubMed:30028079, ECO:0000269|Ref.7,
                     ECO:0000269|Ref.8, ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P63261.1)"
     Site            order(11..14,16,18,137,154..157)
                     /site_type="other"
                     /note="nucleotide binding site [chemical binding]"
                     /db_xref="CDD:212657"
     Site            73
                     /site_type="methylation"
                     /note="Tele-methylhistidine.
                     /evidence=ECO:0000269|PubMed:30626964, ECO:0000269|Ref.8;
                     propagated from UniProtKB/Swiss-Prot (P63261.1)"
     Site            84
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:23673617; propagated from
                     UniProtKB/Swiss-Prot (P63261.1)"
     CDS             1..375
                     /gene="ACTG1"
                     /gene_synonym="ACT; ACTG; DFNA20; DFNA26; HEL-176"
                     /coded_by="NM_001199954.3:192..1319"
                     /db_xref="CCDS:CCDS11782.1"
                     /db_xref="GeneID:71"
                     /db_xref="HGNC:HGNC:144"
                     /db_xref="MIM:102560"
ORIGIN      
        1 meeeiaalvi dngsgmckag fagddaprav fpsivgrprh qgvmvgmgqk dsyvgdeaqs
       61 krgiltlkyp iehgivtnwd dmekiwhhtf ynelrvapee hpvllteapl npkanrekmt
      121 qimfetfntp amyvaiqavl slyasgrttg ivmdsgdgvt htvpiyegya lphailrldl
      181 agrdltdylm kiltergysf tttaereivr dikeklcyva ldfeqemata assssleksy
      241 elpdgqviti gnerfrcpea lfqpsflgme scgihettfn simkcdvdir kdlyantvls
      301 ggttmypgia drmqkeital apstmkikii apperkysvw iggsilasls tfqqmwiskq
      361 eydesgpsiv hrkcf
//
LOCUS       XP_016856426             323 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform
            X1 [Homo sapiens].
ACCESSION   XP_016856426
VERSION     XP_016856426.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017000937.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..323
                     /product="alpha-N-acetylgalactosaminide
                     alpha-2,6-sialyltransferase 3 isoform X1"
                     /calculated_mol_wt=37404
     Region          95..310
                     /region_name="Glyco_transf_29"
                     /note="Glycosyltransferase family 29 (sialyltransferase);
                     pfam00777"
                     /db_xref="CDD:425864"
     CDS             1..323
                     /gene="ST6GALNAC3"
                     /gene_synonym="PRO7177; SIAT7C; ST6GALNACIII; STY"
                     /coded_by="XM_017000937.3:14535..15506"
                     /db_xref="GeneID:256435"
                     /db_xref="HGNC:HGNC:19343"
                     /db_xref="MIM:610133"
ORIGIN      
        1 mlsllflggk rqssrkdthk cqkrrksvia vsfiaaflfl lvvrlvnevn fplllncfgq
       61 pgtkwipfsy tyrrplrthy gyinvktqep lqldcdlcai vsnsgqmvgq kvgneidrss
      121 ciwrmnnapt kgyeedvgrm tmirvvshts vplllknpdy ffkeanttiy viwgpfrnmr
      181 kdgngivynm lkktvgiypn aqiyvttekr msycdgvfkk etgkdrvqsg sylstgwftf
      241 llamdacygi hvygmindty cktegyrkvp yhyyeqgrde cdeyflheha pygghrfite
      301 kkvfakwakk hriifthpnw tls
//
LOCUS       XP_016857639             255 aa            linear   PRI 20-MAR-2023
DEFINITION  Golgi pH regulator A isoform X5 [Homo sapiens].
ACCESSION   XP_016857639
VERSION     XP_016857639.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002150.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..255
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..255
                     /product="Golgi pH regulator A isoform X5"
                     /calculated_mol_wt=29622
     Region          140..207
                     /region_name="GPHR_N"
                     /note="The Golgi pH Regulator (GPHR) Family N-terminal;
                     pfam12537"
                     /db_xref="CDD:432620"
     CDS             1..255
                     /gene="GPR89A"
                     /gene_synonym="GPHR; GPR89; GPR89B; SH120; UNQ192"
                     /coded_by="XM_017002150.3:147..914"
                     /db_xref="GeneID:653519"
                     /db_xref="HGNC:HGNC:31984"
                     /db_xref="MIM:612821"
ORIGIN      
        1 msflidssim itsqilffgf gwlffmrqlf kdyeirqyvv qvifsvtfaf sctmfeliif
       61 eilgvlnsss ryfhwkmnlc villilvfmv pfyigyfivs nirllhkqrl lfscllwltf
      121 myffwklgdp fpilspkhgi lsieqlisrv gvigvtlmal lsgfgavncp ytymsyflrn
      181 vtdtdilale rrllqtmdmi iskkkrmama rrtmfqkgev hnkpsgfwgm iksvttsasg
      241 sesakwitpw hktip
//
LOCUS       XP_016871410             804 aa            linear   PRI 20-MAR-2023
DEFINITION  fibroblast growth factor receptor 2 isoform X4 [Homo sapiens].
ACCESSION   XP_016871410
VERSION     XP_016871410.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017015921.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..804
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..804
                     /product="fibroblast growth factor receptor 2 isoform X4"
                     /calculated_mol_wt=90042
     Region          50..143
                     /region_name="IgI_1_FGFR"
                     /note="First immunoglobulin (Ig)-like domain of fibroblast
                     growth factor receptor (FGFR); member of the I-set of Ig
                     superfamily (IgSF) domains; cd04973"
                     /db_xref="CDD:409362"
     Region          50..53
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409362"
     Region          66..72
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409362"
     Region          75..85
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409362"
     Region          88..93
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409362"
     Region          96..98
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409362"
     Region          103..107
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409362"
     Region          110..115
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409362"
     Region          121..130
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409362"
     Region          133..143
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409362"
     Region          173..267
                     /region_name="IgI_2_FGFR"
                     /note="Second immunoglobulin (Ig)-like domain of
                     fibroblast growth factor (FGF) receptor; member of the
                     I-set of IgSF domains; cd05857"
                     /db_xref="CDD:409443"
     Region          173..176
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409443"
     Region          184..189
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409443"
     Site            order(185,187,189)
                     /site_type="other"
                     /note="FGF binding site [polypeptide binding]"
                     /db_xref="CDD:409443"
     Site            order(186,193..195,197)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:409443"
     Region          193..201
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409443"
     Region          207..212
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409443"
     Region          215..217
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409443"
     Region          226..229
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409443"
     Region          233..238
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409443"
     Region          247..254
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409443"
     Region          257..267
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409443"
     Region          275..379
                     /region_name="IgI_3_FGFR2"
                     /note="Third immunoglobulin (Ig)-like domain of fibroblast
                     growth factor receptor 2 (FGFR2); member of the I-set of
                     Ig superfamily (IgSF) domains; cd05858"
                     /db_xref="CDD:409444"
     Region          275..278
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409444"
     Region          282..286
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409444"
     Region          294..301
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409444"
     Site            order(299,304..306,335..336,340,344,365)
                     /site_type="other"
                     /note="polypeptide ligand binding site [polypeptide
                     binding]"
                     /db_xref="CDD:409444"
     Region          305..312
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409444"
     Region          327..332
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409444"
     Region          344..349
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409444"
     Region          357..365
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409444"
     Region          368..376
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409444"
     Region          473..785
                     /region_name="PTKc_FGFR2"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Fibroblast Growth Factor Receptor 2; cd05101"
                     /db_xref="CDD:270679"
     Site            order(504..505,507,512,532,534,551,581..584,588,643,
                     647..648,650,661,679..683,692,726)
                     /site_type="active"
                     /db_xref="CDD:270679"
     Site            order(504..505,507,512,532,534,551,581..584,588,647..648,
                     650,661)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270679"
     Site            order(643,647,679..683,692,726)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270679"
     Site            660..685
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270679"
     CDS             1..804
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /coded_by="XM_017015921.3:591..3005"
                     /db_xref="GeneID:2263"
                     /db_xref="HGNC:HGNC:3689"
                     /db_xref="MIM:176943"
ORIGIN      
        1 mgltstwryg rgpgigtvtm vswgrficlv vvtmatlsla rpsfslvedt tlepeepptk
       61 yqisqpevyv aapgeslevr cllkdaavis wtkdgvhlgp nnrtvligey lqikgatprd
      121 sglyactasr tvdsetwyfm vnvtdaissg ddeddtdgae dfvsensnnk rapywtntek
      181 mekrlhavpa antvkfrcpa ggnpmptmrw lkngkefkqe hriggykvrn qhwslimesv
      241 vpsdkgnytc vveneygsin htyhldvver sphrpilqag lpanastvvg gdvefvckvy
      301 sdaqphiqwi khvekngsky gpdglpylkv lkaagvnttd keievlyirn vtfedageyt
      361 clagnsigis fhsawltvlp apgrekeita spdyleiaiy cigvfliacm vvtvilcrmk
      421 nttkkpdfss qpavhkltkr iplrrqvsae ssssmnsntp lvrittrlss tadtpmlagv
      481 seyelpedpk wefprdkltl gkplgegcfg qvvmaeavgi dkdkpkeavt vavkmlkdda
      541 tekdlsdlvs ememmkmigk hkniinllga ctqdgplyvi veyaskgnlr eylrarrppg
      601 meysydinrv peeqmtfkdl vsctyqlarg meylasqkci hrdlaarnvl vtennvmkia
      661 dfglardinn idyykkttng rlpvkwmape alfdrvythq sdvwsfgvlm weiftlggsp
      721 ypgipveelf kllkeghrmd kpanctnely mmmrdcwhav psqrptfkql vedldriltl
      781 ttneeyldls qplepyspcy pdpr
//
LOCUS       XP_016872007             986 aa            linear   PRI 20-MAR-2023
DEFINITION  MMS19 nucleotide excision repair protein homolog isoform X5 [Homo
            sapiens].
ACCESSION   XP_016872007
VERSION     XP_016872007.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017016518.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..986
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..986
                     /product="MMS19 nucleotide excision repair protein homolog
                     isoform X5"
                     /calculated_mol_wt=108176
     Region          53..268
                     /region_name="MMS19_N"
                     /note="Dos2-interacting transcription regulator of
                     RNA-Pol-II; pfam14500"
                     /db_xref="CDD:433995"
     Region          511..918
                     /region_name="MMS19_C"
                     /note="RNAPII transcription regulator C-terminal;
                     pfam12460"
                     /db_xref="CDD:432570"
     CDS             1..986
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /coded_by="XM_017016518.3:39..2999"
                     /db_xref="GeneID:64210"
                     /db_xref="HGNC:HGNC:13824"
                     /db_xref="MIM:614777"
ORIGIN      
        1 maaaaaveaa apmgalwglv hdfvvgqqeg padqvaadvk sgnytvlqvv ealgsslenp
       61 eprtraraiq llsqvllhch tlllekevvh lilfyenrlk dhhlvipsvl qglkalslcv
      121 alppglavsv lkaifqevhv qslpqvdrht vyniitnfmr treegpfvee lfevtscyfp
      181 idftpppndp hgiqredlil slravlastp rfaefllpll iekvdsevls akldslqtln
      241 accavygqke lkdflpslwa sirrevfqta serveaegla alhsltacls rsvlradaed
      301 lldsflsnil qdcrhhlcep dmklvwpsak llqaaagasa racdsvtsnv lpllleqfhk
      361 hsqssqrrti lemllgflkl qqkwsyedkd qrplngfkdq lcslvfmalt dpstqlqlvg
      421 irtltvlgaq pdllsyedle lavghlyrls flkedsqswv aaleasgtla alypvafssh
      481 lvpklaeelr vgesnltngd eptqcsrhlc clqalsavst hpsivketlp lllqhlwqvn
      541 rgnmvaqssd viavcqslrq maekcqqdpe scwyfhqtai pcllalavqa smpekepsvl
      601 rkvlledevl aamvsvigta tthlspelaa qsvthivplf ldgnvsflpe nsfpsrfqpf
      661 qdgssgqrrl iallmafvcs lprnveipql nqlmrellel scchscpfss taaakcfagl
      721 lnkhpagqql deflqlavdk veaglgsgpc rsqaftlllw vtkalvlryh plsscltarl
      781 mgllsdpelg paaadgfsll msdctdvltr aghaevrimf rqrfftdnvp alvqgfhaap
      841 qdvkpnylkg lshvlnrlpk pvllpelptl lslllealsc pdcvvqlstl sclqplllea
      901 pqvmslhvdt lvtkflnlss spsmavriaa lqcmhaltrl ptpvllpykp qviralakpl
      961 ddkkrlvrke avsargewfl lgspgs
//
LOCUS       XP_005253092             953 aa            linear   PRI 20-MAR-2023
DEFINITION  signal peptide, CUB and EGF-like domain-containing protein 2
            isoform X5 [Homo sapiens].
ACCESSION   XP_005253092
VERSION     XP_005253092.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005253035.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Feb 3, 2014 this sequence version replaced XP_005253092.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..953
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..953
                     /product="signal peptide, CUB and EGF-like
                     domain-containing protein 2 isoform X5"
                     /calculated_mol_wt=103608
     Site            order(45,48,64)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          49..84
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          95..126
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          132..167
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          177..213
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          217..252
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          286..321
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          <312..361
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Region          <359..395
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Region          407..442
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          673..723
                     /region_name="Ephrin_rec_like"
                     /note="Putative ephrin-receptor like; pfam07699"
                     /db_xref="CDD:429604"
     Region          730..777
                     /region_name="Ephrin_rec_like"
                     /note="Putative ephrin-receptor like; pfam07699"
                     /db_xref="CDD:429604"
     Region          786..833
                     /region_name="Ephrin_rec_like"
                     /note="Putative ephrin-receptor like; pfam07699"
                     /db_xref="CDD:429604"
     Region          838..949
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(846,848,850,877,882,920,944,946,948..949)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     CDS             1..953
                     /gene="SCUBE2"
                     /gene_synonym="CEGB1; CEGF1; CEGP1; scube/You"
                     /coded_by="XM_005253035.5:72..2933"
                     /db_xref="GeneID:57758"
                     /db_xref="HGNC:HGNC:30425"
                     /db_xref="MIM:611747"
ORIGIN      
        1 mgvagrnrpg aawavlllll llppllllag avppgrgraa gpqedvdeca qglddchada
       61 lcqntptsyk csckpgyqge grqcedidec gnelnggcvh dclnipgnyr ctcfdgfmla
      121 hdghncldvd eclennggcq htcvnvmgsy eccckegffl sdnqhtcihr seeglscmnk
      181 dhgcshicke aprgsvacec rpgfelaknq rdciltcnhg nggcqhscdd tadgpecsch
      241 pqykmhtdgr scleredtvl evtesnttsv vdgdkrvkrr llmetcavnn ggcdrtckdt
      301 stgvhcscpv gftlqldgkt ckdidecqtr nggcdhfckn ivgsfdcgck kgfklltdek
      361 scqdvdecsl drtcdhscin hpgtfacacn rgytlygfth cgdtnecsin nggcqqvcvn
      421 tvgsyecqch pgyklhwnkk dcvevkgllp tsvsprvslh cgksgggdgc flrchsgihl
      481 ssglqgaysv tcgsssplrn kqqksndsaf gdvttirtsv tfklnegkcs lknaelfpeg
      541 lrpalpekhs svkesfryvn ltcssgkqvp gapgrpstpk emfitvefel etnqkevtas
      601 cdlscivkrt ekrlrkairt lrkavhreqf hlqlsgmnld vakkpprtse rqaescgvgq
      661 ghaenqcvsc ragtyydgar ercilcpngt fqneegqmtc epcprpgnsg alktpeawnm
      721 secgglcqpg eysadgfapc qlcalgtfqp eagrtscfpc ggglatkhqg atsfqdcetr
      781 vqcspghfyn ttthrcircp vgtyqpefgk nncvscpgnt ttdfdgstni tqcknrrcgg
      841 elgdftgyie spnypgnypa ntectwtinp ppkrrilivv peiflpiedd cgdylvmrkt
      901 sssnsvttye tcqtyerpia ftsrskklwi qfksnegnsa rgfqvpyvty dda
//
LOCUS       XP_011543612            1281 aa            linear   PRI 20-MAR-2023
DEFINITION  liprin-alpha-1 isoform X6 [Homo sapiens].
ACCESSION   XP_011543612
VERSION     XP_011543612.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011545310.4
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 35% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1281
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1281
                     /product="liprin-alpha-1 isoform X6"
                     /calculated_mol_wt=144345
     Region          54..>433
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          246..>521
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          924..994
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat1"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     1; cd09562"
                     /db_xref="CDD:188961"
     Region          1041..1106
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat2"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     2; cd09565"
                     /db_xref="CDD:188964"
     Region          1126..1197
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat3"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     3; cd09568"
                     /db_xref="CDD:188967"
     CDS             1..1281
                     /gene="PPFIA1"
                     /gene_synonym="LIP.1; LIP1; LIPRIN"
                     /coded_by="XM_011545310.4:226..4071"
                     /db_xref="GeneID:8500"
                     /db_xref="HGNC:HGNC:9245"
                     /db_xref="MIM:611054"
ORIGIN      
        1 mmcevmptis eaegppgggg ghgsgspsqp dadshfeqlm vsmleerdrl ldtlretqet
       61 laltqgklhe vgherdslqr qlntalpqef aaltkelnvc reqllereee iaelkaernn
      121 trlllehlec lvsrherslr mtvvkrqaqs pagvssevev lkalkslfeh hkaldekvre
      181 rlrvalercs lleeelgath kelmilkeqn nqkktltdgv ldinheqent pstsgkrssd
      241 gslsheedla kvielqeiis kqsreqsqmk erlaslsshv teleedldta rkdlikseem
      301 ntklqrdvre amaqkedmee rittlekryl aaqreatsvh dlndklenei ankdsmhrqt
      361 edknrqlqer lelaeqklqq tlrkaetlpe veaelaqrva alskaeerhg nieerlrqme
      421 aqleeknqel qrarqrekmn eehnkrlsdt vdkllsesne rlqlhlkerm aaledknsll
      481 revesakkql eetqhdkdql vlniealrae ldhmrlrgas lhhgrphlgs vpdfrfpmad
      541 ghtdsystsa vlrrpqkgrl aalrdepskv qtlneqdwer aqqasvlanv aqafesdadv
      601 sdgeddrdtl lssvdllsps gqadahtlam mlqeqldain keirliqeek enteqraeei
      661 esrvgsgsld nlgrfrsmss ippypassla sssppgsgrs tprriphspa revdrlgvmt
      721 lpspdsfliq tsgphqsvvy sstsppsstp cysdssqhaq psdlrkhrrk lppsreevrd
      781 dkttikcets ppsspralrl drlhkgalht vshedirdir nstgsqdgpv snpsssnssq
      841 dslhkapkkk gikssigrlf gkkekgrpgq tgkealgqag vsetdnssqd alglsklggq
      901 aeknrklqkk helleearrq glpfaqwdgp tvvvwlelwv gmpawyvaac ranvksgaim
      961 salsdteiqr eigisnplhr lklrlaiqei msltspsapp tsrtttgnvw ltheemetla
     1021 atpqtedeeg swaqtlaygd mnhewignew lpslglpqyr syfmeclvda rmldhltkkd
     1081 lrgqlkmvds fhrnsfqcgi mclrrlnydr kelerkrees qseikdvlvw sndrvirwil
     1141 siglkeyann liesgvhgal laldetfdfs alalllqipt qntqaravle refnnllvmg
     1201 tdrrfdeddd ksfrrapswr kkfrpkdirg laagsaetlp anfrvtssms spsmqpkkmq
     1261 mdgnvsgtqr ldsatvrtys c
//
LOCUS       XP_047288005             556 aa            linear   PRI 20-MAR-2023
DEFINITION  mucin-2-like [Homo sapiens].
ACCESSION   XP_047288005
VERSION     XP_047288005.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432049.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 32% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..556
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..556
                     /product="mucin-2-like"
                     /calculated_mol_wt=60121
     Region          <176..545
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..556
                     /gene="LOC124903407"
                     /coded_by="XM_047432049.1:1..1671"
                     /db_xref="GeneID:124903407"
ORIGIN      
        1 maenkglgyp darfsvlvss qlaipmplls sgspvllcdp gpwpthlraa vlyiptpcsl
       61 qnptalqatn pkigcssele kpywrggvpk asslpsflgd cglvmmcglg ldlyceeeet
      121 ewapqqgiwk apfllltvtp ngmfpnpqni waaelralll aqptgcslls lawttphldh
      181 tpssphpiqa tlhpvhtpsr phpiqstlht vhapsrphpi qstlhpvhsl srphpiqstp
      241 hpdhtpsspc piqtthhlvh apsrphtiqt ttpssphciq tsvhlssphl tqtnlhpvht
      301 pssphpikit tpssphsils tphpvhtpss phpvqytphp vhtpsrphpi qytphpvhtp
      361 sslhsiqttp hsvhvassph piqttphpdh tpssphpiqs tphpdhtvss prpiqtiphp
      421 dhtsprpstp hpdhtpsrph ltqttphpvt lhpvhtpsrp llhpdhtpcs shspkstphp
      481 vhvpssscpt qttlhpihap prpllhpvht asspysiqst vhpdhvhlth apsspcsiws
      541 saftlqcpll sslfla
//
LOCUS       XP_047289900            1674 aa            linear   PRI 20-MAR-2023
DEFINITION  trinucleotide repeat-containing gene 6A protein isoform X41 [Homo
            sapiens].
ACCESSION   XP_047289900
VERSION     XP_047289900.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433944.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1674
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..1674
                     /product="trinucleotide repeat-containing gene 6A protein
                     isoform X41"
                     /calculated_mol_wt=178760
     Region          <1041..>1125
                     /region_name="M_domain"
                     /note="M domain of GW182; pfam12938"
                     /db_xref="CDD:432890"
     Region          1218..1479
                     /region_name="TNRC6-PABC_bdg"
                     /note="TNRC6-PABC binding domain; pfam16608"
                     /db_xref="CDD:435458"
     Region          1487..1578
                     /region_name="RRM_TNRC6A"
                     /note="RNA recognition motif (RRM) found in vertebrate
                     GW182 autoantigen; cd12711"
                     /db_xref="CDD:410110"
     CDS             1..1674
                     /gene="TNRC6A"
                     /gene_synonym="CAGH26; FAME6; GW1; GW182; TNRC6"
                     /coded_by="XM_047433944.1:83..5107"
                     /db_xref="GeneID:27327"
                     /db_xref="HGNC:HGNC:11969"
                     /db_xref="MIM:610739"
ORIGIN      
        1 meekkkkkdd kkkkeaaqkk ateqkikdin hstsgshyen sqrgpvssts dsstncknav
       61 vsdlsekeaw psapgsdpel asecmdadsa sssesernit imasgntgge kdglrnstgl
      121 gsqnkfvvgs ssnnvghgss tgpwgfshga iistcqvsvd apesksessn nrmnawgtvs
      181 sssngglnps tlnsasnhga wpvlenngla lkgpvgsgss giniqcstig qmpnnqsins
      241 kvsggsthgt wgslqetces evsgtqkvsf sgqpqnitte mtgpnnttnf mtsslpnsgs
      301 vqnnelpssn tgawrvstmn hpqmqapsgm ngtslshlsn gesksggsyg ttwgaygsny
      361 sgdkcsgpng qangdtvnat lmqpgvngpm gtnfqvntnk gggvwesgaa nsqstswgsg
      421 ngansggsrr gwgtpaqntg tnlpsvewnk lpsnqhsnds angngktftn gwksteeedq
      481 gsatsqtneq ssvwaktggt vesdgstest grleekgtge sqsrdrrkid qhtllqsivn
      541 rtdldprvls nsgwgqtpik qntawdtets prgerktdng teawgssatq tfnsgacidk
      601 tspngndtss vsgwgdpkpa lrwgdskgsn cqggweddsa atgmvksnqw gnckeekaaw
      661 ndsqknkqgw gdgqkssqgw svsasdnwge tsrnnhwgea nkksssggsd sdrsvsgwne
      721 lgktssftwg nninpnnssg wdesskptps qgwgdppksn qslgwgdssk pvsspdwnkq
      781 qdivgswgip patgkppgtg wlggpipapa keeeptgwee pspesirrkm eiddgtsawg
      841 dpskynyknv nmwnknvpng nsrsdqqaqv hqlltpasai snkeassgsg pksmqdgwcg
      901 ddmplpgnrp tgweeeedve igmwnsnssq elnsslnwpp ytkkmsskgm mkggnkqeea
      961 winpfvkqfs nisfsrdspe envqsnkmdl sggmlqdkrm eidkhslnig dynrtvgkgp
     1021 gsrpqiskes smernpyfdk ngnpsmfgvg ntaaqprgmq qppaqplsss qpnlraqvpp
     1081 pllspqvpvs llkyapnngg lnplfgpqqv amlnqlsqln qlsqisqlqr llaqqqraqs
     1141 qrsvpsgnrp qqdqqgrpls vqqqmmqqsr qldpnllvkq qtppsqqqpl hqpamksfld
     1201 nvmphttpel qkgpspinaf snfpiglnsn lnvnmdmnsi kepqsrlrkw ttvdsisvnt
     1261 sldqnsskhg aissgfrlee spfvpydfmn sstspasppg sigdgwprak spngsssvnw
     1321 ppefrpgepw kgypnidpet dpyvtpgsvi nnlsintvre vdhlrdrnsg sssslnttlp
     1381 stsawssira snynvplsst aqstsarnsd skltwspgsv tntslahelw kvplppknit
     1441 apsrpppglt gqkpplstwd nsplrigggw gnsdarytpg sswgesssgr itnwlvlknl
     1501 tpqidgstlr tlcmqhgpli tfhlnlphgn alvrysskee vvkaqkslhm cvlgnttila
     1561 efaseeeisr ffaqsqsltp spgwqslgss qsrlgsldcs hsfssrtdln hwngaglsgt
     1621 ncgdlhgtsl wgtphystsl wgppsssdpr gisspspina flsvdhlggg gesm
//
LOCUS       XP_016878918            2324 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein axonemal heavy chain 3 isoform X10 [Homo sapiens].
ACCESSION   XP_016878918
VERSION     XP_016878918.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017023429.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2324
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..2324
                     /product="dynein axonemal heavy chain 3 isoform X10"
                     /calculated_mol_wt=267140
     Region          <651..804
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          820..1223
                     /region_name="DHC_N2"
                     /note="Dynein heavy chain, N-terminal region 2; pfam08393"
                     /db_xref="CDD:429971"
     Region          1352..1678
                     /region_name="AAA_6"
                     /note="Hydrolytic ATP binding site of dynein motor region
                     D1; pfam12774"
                     /db_xref="CDD:432774"
     Region          1668..1809
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Region          1845..1988
                     /region_name="Dynein_AAA_lid"
                     /note="Dynein heavy chain AAA lid domain; pfam17852"
                     /db_xref="CDD:436094"
     Region          1999..2176
                     /region_name="AAA_7"
                     /note="P-loop containing dynein motor region D3;
                     pfam12775"
                     /db_xref="CDD:432775"
     Region          2208..2297
                     /region_name="AAA_lid_1"
                     /note="AAA+ lid domain; pfam17857"
                     /db_xref="CDD:375385"
     CDS             1..2324
                     /gene="DNAH3"
                     /gene_synonym="DNAHC3-B; DNAHC3B; HDHC8; HEL-36; HSADHC3"
                     /coded_by="XM_017023429.2:467..7441"
                     /db_xref="GeneID:55567"
                     /db_xref="HGNC:HGNC:2949"
                     /db_xref="MIM:603334"
ORIGIN      
        1 mpviralwkv eaggspeiak sdsihhmshs qgqpelpplp asaneepsgl yqtvmshsfy
       61 pplmqrtswt laapfkeqhh hrgpsdsian nyslmaqdlk lkdllkvyqp atisvprdrt
      121 gqglpssgnr sssepmrkkt kfssrnkeds triklafkts ifspmkkevk tsltfpgsrp
      181 mspeqqldvm lqqememesk ekkpsesdle ryyyyltngi rkdmiapeeg evmvriskli
      241 sntlltspfl eplmvvlvqe kendyycslm ksivdyilmd pmerkrlfie siprlfpqrv
      301 irapvpwhsv yrsakkwnee hlhtvnpmml rlkelwfaef rdlrfvrtae ilagklplqp
      361 qefwdviqkh cleahqtlln kwiptcaqlf tsrkehwihf apksnydssr nieeyfasva
      421 sfmslqlrel viksledlvs lfmihkdgnd fkepyqemkf fipqlimikl evsepiivfn
      481 psfdgcweli rdsfleiikn sngipkvesv lfpelkgynl llgtvnaeek lvsdfliqtf
      541 kvfqknqvgp ckylnvykky vdlldntaeq niaaflkenh diddfvtkin aikkrrneia
      601 smnitvplam fcldatalnh dlceraqnlk dhliqfqvdv nrdtntsicn qyshiadkvs
      661 evpantkelv slieflkkss avtvfklrrq lrdaserlef lmdyadlpye diklnstlfl
      721 wpdqiedifd nsrnlllhkr dqaemdlikr csefelrleg yhrelesfrk revmtteemk
      781 hnveklnels knlnrafaef elinkeeell ekekstypll qamlknkvpy eqlwstayef
      841 sikseewmng plfllnaeqi aeeignmwrt tykliktlsd vpaprrlaen vkikidkfkq
      901 yipilsiscn pgmkdrhwqq iseivgyeik ptettclsnm lefgfgkfve klepigaaas
      961 keysleknld rmkldwvnvt fsfvkyrdtd tnilcaiddi qmllddhvik tqtmcgspfi
     1021 kpieaecrkw eekliriqdn ldawlkcqat wlylepifss ediiaqmpee grkfgivdsy
     1081 wkslmsqavk dnrilvaadq prmaeklqea nfllediqkg lndylekkrl ffprffflsn
     1141 delleilset kdplrvqphl kkcfegiakl eftdnleivg misseketvp fiqkiypana
     1201 kgmvekwlqq veqmmlasmr eviglgieay vkvprnhwvl qwpgqvvicv ssifwtqevs
     1261 qalaentlld flkksndqia qivqlvrgkl ssgarltlga ltvidvhard vvaklsedrv
     1321 sdlndfqwis qlryywvakd vqvqiittea lygyeylgns prlvitpltd rcyrtlmgal
     1381 klnlggapeg pagtgktett kdlakalakq cvvfncsdgl dykamgkffk glaqagawac
     1441 fdefnrieve vlsvvaqqil siqqaiirkl ktfifegtel slnptcavfi tmnpgyagra
     1501 elpdnlkalf rtvammvpdy aligeislys mgfldsrsla qkivatyrlc seqlssqhhy
     1561 dygmravksv ltaagnlklk ypeenesvll lralldvnla kflaqdvplf qgiisdlfpg
     1621 vvlpkpdyev flkvlndnik kmklqpvpwf igkiiqiyem mlvrhgymiv gdpmggktsa
     1681 ykvlaaalgd lhaanqmeef aveykiinpk aitmgqlygc fdqvshewmd gvlanafreq
     1741 asslsddrkw iifdgpvdai wienmntvld dnkklclmsg eiiqmnskms lifepadleq
     1801 aspatvsrcg miymephqlg wkplkdsymd tlpssltkeh kelvndmfmw lvqpclefgr
     1861 lhckfvvqts pihlafsmmr lysslldeir aveeeemelg eglssqqifl wlqglflfsl
     1921 vwtvagtina dsrkkfdvff rnlimgmddn hprpksvklt knnifpergs iydfyfikqa
     1981 sghwetwtqy itkeeekvpa gakvseliip tmetarqsff lktyldheip mlfvgptgtg
     2041 ksaitnnfll hlpkntylpn cinfsartsa nqtqdiimsk ldrrrkglfg ppigkkavvf
     2101 vddlnmpake vygaqppiel lrqwidhgyw fdkkdttrld ivdmllvtam gppgggrndi
     2161 tgrftrhlni isinafeddi ltkifssivd whfgkgfdvm flrygkmlvq atktiyrdav
     2221 enflptpsks hyvfnlrdfs rviqgvllcp hthlqdvekc irlwihevyr vfydrlidke
     2281 drqvffnmvk ettsncfkqt iekisgslpv gdcqlctlnl gkqy
//
LOCUS       XP_047294509             359 aa            linear   PRI 20-MAR-2023
DEFINITION  4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase
            FUT6 isoform X1 [Homo sapiens].
ACCESSION   XP_047294509
VERSION     XP_047294509.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438553.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..359
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..359
                     /product="4-galactosyl-N-acetylglucosaminide
                     3-alpha-L-fucosyltransferase FUT6 isoform X1"
                     /calculated_mol_wt=41729
     Region          62..169
                     /region_name="Glyco_tran_10_N"
                     /note="Fucosyltransferase, N-terminal; pfam17039"
                     /db_xref="CDD:435707"
     Region          185..357
                     /region_name="Glyco_transf_10"
                     /note="Glycosyltransferase family 10 (fucosyltransferase)
                     C-term; pfam00852"
                     /db_xref="CDD:425907"
     CDS             1..359
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /coded_by="XM_047438553.1:1347..2426"
                     /db_xref="GeneID:2528"
                     /db_xref="HGNC:HGNC:4017"
                     /db_xref="MIM:136836"
ORIGIN      
        1 mdplgpakpq wswrcclttl lfqllmavcf fsylrvsqdd ptvypngsrf pdstgtpahs
       61 iplillwtwp fnkpialprc semvpgtadc nitadrkvyp qadavivhhr evmynpsaql
      121 prsprrqgqr wiwfsmesps hcwqlkamdg yfnltmsyrs dsdiftpygw lepwsgqpah
      181 pplnlsakte lvawavsnwg pnsarvryyq slqahlkvdv ygrshkplpq gtmmetlsry
      241 kfylafensl hpdyiteklw rnaleawavp vvlgpsrsny erflppdafi hvddfqspkd
      301 larylqeldk dharylsyfr wretlrprsf swalafckac wklqeesryq trgiaawft
//
LOCUS       XP_047294645             599 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 875 isoform X7 [Homo sapiens].
ACCESSION   XP_047294645
VERSION     XP_047294645.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438689.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..599
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..599
                     /product="zinc finger protein 875 isoform X7"
                     /calculated_mol_wt=68161
     Region          219..235
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          239..598
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          243..263
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          271..291
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          299..319
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          327..347
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(332,334,336,338..339,342..343,346,360,362,366..367,
                     370..371,374,388,390,392,394..395,398..399,402)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          355..375
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          383..403
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          411..431
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          439..459
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          467..487
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          495..515
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          521..541
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(526,528,530,532..533,536..537,540,554,556,560..561,
                     564..565,568,582,584,586,588..589,592..593,596)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          549..569
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          577..597
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..599
                     /gene="ZNF875"
                     /gene_synonym="HKR1"
                     /coded_by="XM_047438689.1:2891..4690"
                     /db_xref="GeneID:284459"
                     /db_xref="HGNC:HGNC:4928"
                     /db_xref="MIM:165250"
ORIGIN      
        1 mletynhlvs leipsskpkl iaqlergeap wreerkcpld lcpaeskpei qlspscplif
       61 ssqqalsqhv wlshlsqlfs slwagnplhl gkhypedqkq qqdpfcfsgk aewiqegeds
      121 rllfgrvskn gtskalsspp eeqqpaqske dntvvdigss perradleet dkvlhglevs
      181 gfgeikyeef gpgfikesnl lslqktqtge tpymytewgd sfgsmsvlik nprthsggkp
      241 yvcrecgrgf twksnlithq rthsgekpyv ckdcgrgftw ksnlfthqrt hsglkpyvck
      301 ecgqsfslks nlithqraht gekpyvcrec grgfrqhshl vrhkrthsge kpyicreceq
      361 gfsqkshlir hlrthtgekp yvctecgrhf swksnlkthq rthsgvkpyv clecgqcfsl
      421 ksnlnkhqrs htgekpfvct ecgrgftrks tlsthqrths gekpfvcaec grgfndkstl
      481 ishqrthsge kpfmcrecgr rfrqkpnlfr hkrahsgafv crecgqgfca kltlikhqra
      541 haggkphvcr ecgqgfsrqs hlirhqrths gekpyicrkc grgfsrksnl irhqrthsg
//
LOCUS       XP_016858773            1183 aa            linear   PRI 20-MAR-2023
DEFINITION  partitioning defective 3 homolog B isoform X3 [Homo sapiens].
ACCESSION   XP_016858773
VERSION     XP_016858773.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017003284.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1183
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1183
                     /product="partitioning defective 3 homolog B isoform X3"
                     /calculated_mol_wt=129724
     Region          178..268
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Region          365..445
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(370..373,375,427..428,431..432)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          479..567
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(486..489,491,544..545,548..549)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     CDS             1..1183
                     /gene="PARD3B"
                     /gene_synonym="ALS2CR19; PAR3B; PAR3beta; PAR3L"
                     /coded_by="XM_017003284.2:11777..15328"
                     /db_xref="GeneID:117583"
                     /db_xref="HGNC:HGNC:14446"
                     /db_xref="MIM:619353"
ORIGIN      
        1 mkaisnegsr gavscekqsc deeikekqqs eskirinkss gtqsgsqrri amliavfeeq
       61 eplhkiesps gnpadrqspd afetevaaql aafkpiggei evtpsalklg tpllvrrssd
      121 pvpgppadtq psashpggqs lklvvpdstq nledrevlng vqtelltspr tkdtlsdmtr
      181 tveisgeggp lgihvvpffs slsgrilglf irgiednsrs kreglfhene civkinnvdl
      241 vdktfaqaqd vfrqamksps vllhvlppqn reqyeksvig slnifgnndg vlktkvpppv
      301 hgksglktan ltgtdspetd asaslqqnks prvprlggkp sspslsplmg fgsnknakki
      361 kidlkkgpeg lgftvvtrds sihgpgpifv knilpkgaai kdgrlqsgdr ilevngrdvt
      421 grtqeelvam lrstkqgeta slviarqegh flprelkgep dccalslets eqltfeipln
      481 dsgsaglgvs lkgnksretg tdlgifiksi ihggaafkdg rlrmndqlia vngesllgks
      541 nheametlrr smsmegnirg miqlvilrrp erpmedpaec gafskpcfen cqnavttsrr
      601 ndnsilhplg tcspqdkqkg lllpndgwae sevppsptph salglgledy shssgvdsav
      661 yfpdqhinfr svtparqpes inlkasksmd lvpdeskvhs lagqksesps kdfgptlglk
      721 ksssleslqt avaevrkndl pfhrprphmv rgrgcnesfr aaidksydgp eeieadglsd
      781 ksshsgqgal ncesapqgns eledmenkar kvkktkekek kkekgklkvk ekkrkeened
      841 perkikkkgf gamlrfgkkk edkggkaeqk gtlkhgglre eelekmkeer erigakhqel
      901 rekqarglld yatgaigsvy dmdddemdpn yarvnhfrep ctsanvfrsp sppragpfgy
      961 prdghplspe rdhleglyak vnkpyhplvp adsgrptggs tdriqklrke yyqarregfp
     1021 lyeddegrar pseydllwvp grgpdgnahn lrfegmerqy aslprggpad pvdylpaapr
     1081 glykerelpy ypgahpmhpp kgsyprptel rvadlrypqh yppppapqhk gpfrqdvpps
     1141 ppqhqrmpay qetgrpgprg gspdqypyrt qdsrqknpmt aav
//
LOCUS       XP_006712073             326 aa            linear   PRI 20-MAR-2023
DEFINITION  ketohexokinase isoform X5 [Homo sapiens].
ACCESSION   XP_006712073
VERSION     XP_006712073.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006712010.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..326
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..326
                     /product="ketohexokinase isoform X5"
                     /calculated_mol_wt=35737
     Region          5..>190
                     /region_name="Ketohexokinase"
                     /note="Ketohexokinase (fructokinase, KHK) catalyzes the
                     phosphorylation of fructose to fructose-1-phosphate (F1P),
                     the first step in the metabolism of dietary fructose. KHK
                     can also phosphorylate several other furanose sugars. It
                     is found in higher eukaryotes...; cd01939"
                     /db_xref="CDD:238914"
     CDS             1..326
                     /gene="KHK"
                     /gene_synonym="FRUCTU"
                     /coded_by="XM_006712010.5:489..1469"
                     /db_xref="GeneID:3795"
                     /db_xref="HGNC:HGNC:6315"
                     /db_xref="MIM:614058"
ORIGIN      
        1 meekqilcvg lvvldvislv dkypkedsei rclsqrwqrg gnasnsctvl sllgapcafm
       61 gsmapghvad sfvlddlrry svdlrytvfq ttgsvpiatv iineasgsrt ilyydrslpd
      121 vsatdfekvd ltqfkwihie grnaseqvkm lqridahntr qppeqkirvs vevekpreel
      181 fqlfgygdvv gapfslslpl panlvlkgsq npfilpttig ivvpglvvfe dggwglkqrs
      241 rplalgssag lsseqgvecl hprwvhrckn aqrawvglkq pqgkpvwkhl lsgapqsfpl
      301 qnegtqlfse vssnsgvsgr lwgllg
//
LOCUS       XP_047300639             599 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and MYND domain-containing protein 1 isoform X35
            [Homo sapiens].
ACCESSION   XP_047300639
VERSION     XP_047300639.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444683.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..599
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..599
                     /product="ankyrin repeat and MYND domain-containing
                     protein 1 isoform X35"
                     /calculated_mol_wt=66683
     Region          38..>103
                     /region_name="PLN03185"
                     /note="phosphatidylinositol phosphate kinase; Provisional"
                     /db_xref="CDD:215619"
     Region          <119..>151
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          288..497
                     /region_name="ANKYR"
                     /note="Ankyrin repeat [Signal transduction mechanisms];
                     COG0666"
                     /db_xref="CDD:223738"
     Region          341..426
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          356..391
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          393..426
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          457..491
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..599
                     /gene="ANKMY1"
                     /gene_synonym="ZMYND13"
                     /coded_by="XM_047444683.1:25..1824"
                     /db_xref="GeneID:51281"
                     /db_xref="HGNC:HGNC:20987"
ORIGIN      
        1 mrdvsaapek eeeeaegplr aqdlresyiq lvqgvqewqd gcmyqgefgl nmklgygkfs
       61 wptgesyhgq fyrdhchglg tymwpdgssf tgtfylshre gygtmymktr lfqthchndi
      121 vnllldcgad vnkcsdeglt alsmcfllhy paqsfkpnva ertipepqep pkfpvvpils
      181 ssfmdtnles lyyevnvpsq gsyelrpppa plllprvsgs hegghfqdtg qcggsidhrs
      241 sslkgdsplv kgslghvesg ledvlgntdr gslcsaetkf esnvcvcdfs ielsqamler
      301 saqshsllkm aspspctssf dkgtmrrmal smierrkrwr tiklllrrga dpnlccvpmq
      361 vlflavkagd vdgvrllleh gartdicfpp qlstltplhi aaalpgeegv qivelllhai
      421 tdvdakasde ddtykpgkvv kelltqgadp nlpltkglgs alcvacdlty ehqrnmdskl
      481 alidrlishg adilkpvmlr qgekeavgta vdygyfrffq drriarcpfh tlmpaeretf
      541 larkrlleym glqlrqavfa kesqwdptwl ylckraqggr nsipdqysqe hsrrghgcq
//
LOCUS       XP_047301476             691 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase MARCHF7 isoform X2 [Homo sapiens].
ACCESSION   XP_047301476
VERSION     XP_047301476.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445520.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..691
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..691
                     /product="E3 ubiquitin-protein ligase MARCHF7 isoform X2"
                     /calculated_mol_wt=76448
     Region          552..610
                     /region_name="RING_CH-C4HC3_MARCH7"
                     /note="RING-CH finger, H2 subclass (C4HC3-type), found in
                     membrane-associated RING-CH7 (MARCH7); cd16812"
                     /db_xref="CDD:438461"
     CDS             1..691
                     /gene="MARCHF7"
                     /gene_synonym="AXO; AXOT; MARCH-VII; MARCH7; RNF177"
                     /coded_by="XM_047445520.1:158..2233"
                     /db_xref="GeneID:64844"
                     /db_xref="HGNC:HGNC:17393"
                     /db_xref="MIM:613334"
ORIGIN      
        1 meskpsripr risvqpsssl sarmmsgsrg sslndtyhsr dssfrldsey qstsasasas
       61 pfqsawyses eitqgarsrs qnqqrdhdsk rpklsctnct tsagrnvgng lntlsdsswr
      121 hsqvprsssm vlgsfgtdlm rerrdlerrt dssisnlmdy shrsgdftts syvqdrvpsy
      181 sqgarpkens mstlqlntss tnhqlpsehq tilssrdsrn slrsnfssre sessrsntqp
      241 gfsysssrde apiisnserv vssqrpfqes sdnegrrttr rllsriassm sstffsrrss
      301 qdslntrsln sensyvspri ltasqsrsnv psasevpdnr aseasqgfrf lrrrwglssl
      361 shnhssesds enfnqesegr ntgpwlsssl rnrctplfsr rrregrdess riptsdtssr
      421 shifrresne vvhleaqndp lgaaanrpqa saasssattg gstsdsaqgg rntgisgilp
      481 gslfrfavpp algsnltdnv mitvdiipsg wnsadgksdk tksapsrdpe rlqkikesll
      541 ledseeeegd lcricqmaaa sssnlliepc kctgslqyvh qdcmkkwlqa kinsgsslea
      601 vttcelckek lelnledfdi helhrahane qaeyefissg lylvvllhlc eqsfsdmmgn
      661 tnepstrvrl qrmipkktet itghlilpnf i
//
LOCUS       XP_011531346             278 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor expression-enhancing protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_011531346
VERSION     XP_011531346.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011533044.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..278
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..278
                     /product="receptor expression-enhancing protein 1 isoform
                     X2"
                     /calculated_mol_wt=31010
     Region          13..88
                     /region_name="TB2_DP1_HVA22"
                     /note="TB2/DP1, HVA22 family; pfam03134"
                     /db_xref="CDD:427159"
     CDS             1..278
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; SPG31; Yip2a"
                     /coded_by="XM_011533044.2:26..862"
                     /db_xref="GeneID:65055"
                     /db_xref="HGNC:HGNC:25786"
                     /db_xref="MIM:609139"
ORIGIN      
        1 mcllglifgt lypayysyka vkskdikeyv kwmmywiifa lfttaetftd iflcwfpfyy
       61 elkiafvawl lspytkgssl lyrkfvhptl sskekeiddc lvqakdrsyd alvhfgkrgl
      121 nvaataavma askgqgalse rlrsfsmqdl ttirgdgapa psgppppgsg rasgkhgqpk
      181 msrsasesas ssvctccstc rtwkvvegdv neggmkawep hqvqnplafs ddeeedlldf
      241 mykykaprrm elpleappri lrsrfrkkst sssatett
//
LOCUS       XP_011508687             399 aa            linear   PRI 20-MAR-2023
DEFINITION  EARP and GARP complex-interacting protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_011508687
VERSION     XP_011508687.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011510385.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..399
                     /product="EARP and GARP complex-interacting protein 1
                     isoform X2"
                     /calculated_mol_wt=44783
     Region          80..142
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          150..186
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          151..>382
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          200..236
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          243..281
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          287..356
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          362..386
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..399
                     /gene="EIPR1"
                     /gene_synonym="EIPR-1; TSSC1"
                     /coded_by="XM_011510385.3:207..1406"
                     /db_xref="GeneID:7260"
                     /db_xref="HGNC:HGNC:12383"
                     /db_xref="MIM:608998"
ORIGIN      
        1 mrlnnpgepp hlkvlnlsts aeslyraral tpqtaetdai rflvgtqslk ydnqihiidf
       61 ddenniinkn vllhqageiw hisaspadrg vlttcynrts dskvltcaav wrmpkelesg
      121 shespddsss taqtlellch ldntahgnma cvvwepmgdg kkiisladnh illwdlqess
      181 sqavlassas legkgqlkft sgrwsphhnc tqvatandtt lrgwdtrsms qiycienahg
      241 qlvrdldfnp nkqyylascg ddckvkfwdt rnvtepvktl eehshwvwnv rynhshdqlv
      301 ltgssdsrvi lsnmvsisse pfghlvdddd isdqedhrse ekskeplqdn viatyeehed
      361 svyavdwssa dpwlfaslsy dgrlvinrvp ralkyhill
//
LOCUS       XP_047301690            1809 aa            linear   PRI 20-MAR-2023
DEFINITION  RANBP2-like and GRIP domain-containing protein 2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047301690
VERSION     XP_047301690.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445734.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1809
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1809
                     /product="RANBP2-like and GRIP domain-containing protein 2
                     isoform X2"
                     /calculated_mol_wt=203463
     Region          <82..158
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Site            order(86..87,89,113,116..117,120..121,123..124,147,
                     150..151,154..155,158)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          111..141
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          112..143
                     /region_name="TPR"
                     /note="Tetratricopeptide repeats; smart00028"
                     /db_xref="CDD:197478"
     Region          1097..1213
                     /region_name="RanBD2_RanBP2-like"
                     /note="Ran-binding protein 2, Ran binding domain repeat 2;
                     cd13177"
                     /db_xref="CDD:269998"
     Site            order(1111,1113..1115,1120..1125,1142,1144,1146..1147,
                     1149,1151..1153,1156,1158,1162,1166,1176,1178,1191,1195)
                     /site_type="other"
                     /note="putative RAN binding site [polypeptide binding]"
                     /db_xref="CDD:269998"
     Region          1394..1510
                     /region_name="RanBD3_RanBP2-like"
                     /note="Ran-binding protein 2, Ran binding domain repeat 3;
                     cd14685"
                     /db_xref="CDD:270204"
     Site            order(1408,1410..1412,1417..1422,1439,1441,1443..1444,
                     1446,1448..1450,1453,1455,1459,1463,1473,1475,1488,1492)
                     /site_type="other"
                     /note="putative RAN binding site [polypeptide binding]"
                     /db_xref="CDD:270204"
     Region          1687..1747
                     /region_name="Rab_bind"
                     /note="Rab binding domain; pfam16704"
                     /db_xref="CDD:435531"
     Region          1750..1793
                     /region_name="GRIP"
                     /note="GRIP domain; pfam01465"
                     /db_xref="CDD:426274"
     CDS             1..1809
                     /gene="RGPD2"
                     /gene_synonym="NUP358; RANBP2L2; RGP2"
                     /coded_by="XM_047445734.1:142..5571"
                     /db_xref="GeneID:729857"
                     /db_xref="HGNC:HGNC:32415"
                     /db_xref="MIM:612705"
ORIGIN      
        1 mvritvpeia tselvqtclq tikfilpkei avqmlvkwyn vhsapvgpsy hsewnlfvtc
       61 lmnvmgfntd rlawtrnklr gfyfaklyye akeydlakky vctylsvqer dprahrflgl
      121 lyeleentek avecyrrsle lnppqkdlvl kiaellcknd vtdgrakywv eraaklfpgs
      181 paiyklkehl ldcegedgwn klfdwiqsel yvrpddvhmn irlvelyrsn krlkdavarc
      241 heaernialr sslewnscvv qtlkeylesl qclesdksdw ratntdllla yanlmlltls
      301 trdvqesrel lesfdsalqs aksslggnde lsatflemkg hfymhagsll lkmgqhgnnv
      361 qwqalselaa lcyviafqvp rpkiklikge agqnllemma cdrlsqsghm llnlsrgkqd
      421 flkevvetfa nksgqsvlyn alfssqsskd tsflgsddig nidvqepele dlarydvgai
      481 qahngslqhl twlglqwnsl palpgirkwl kqlfhhlpqe tsrletnape sicildlevf
      541 llgvvytshl qlkekcnshh ssyqplclpl pvckrlcter qkswwdavct lihrkavpgn
      601 saelrlvvqh eintlraqek hglqpallvh wakclqkmgr glnssydqqe yigrsvhywk
      661 kvlpllkiik knsipepidp lfkhfhsvdi qaseiveyee dahitfaild avhgniedav
      721 tafesiksvv sywnlalifh rkaedienda vfpeeqeeck nylrktrdyl ikiiddsdsn
      781 lsvvkklpvp lesvkemlks vmqeledyse ggplykngsl rnadseikhs tpsptkysls
      841 psksykyspk tpprwaedqn slrkmicqev kaitklnssk sasrhrwpte nygpdsvpdg
      901 yqgsqtfhga pltvattgps vyysqspayn sqyllrpaan vtptkgssnt efkstkegfs
      961 iavsadgfkf gisepgnqek ksekplendt gfqaqdisgq kngrgvifgq tsstftfadv
     1021 akstsgegfq fgkkdpnfkg fsgageklfs sqcgkmanka ntsgdfekdd dacktedsdd
     1081 ihfepvvqmp ekvelvtgee gekvlysqgv klfrfdaeis qwkerglgnl kilknevngk
     1141 prmlmrrdqv lkvcanhwit ttmnlkplsg sdrawmwlas dfsdgdakle rlaaqfktpe
     1201 laeefkqkfe ecqrllldip lqtphklvdt graakliqra eemksglkdf ktfltndqtk
     1261 vteeenkgsg tgaagasdtt ikpnpentgp tlewdnydlr edalddnvss ssvhdsplas
     1321 spvrknifrf desttgfnfs fksalslsks paklnqsgts vgtdeesdvt qeeerdgqyf
     1381 epvvplpdlv evssgeeneq vvfshmaely rydkdvgqwk ergigdikil qnydnkqvri
     1441 vmrrdqvlkl canhritpdm slqnmkgter vwvwtacdfa dgerkvehla vrfklqdvad
     1501 sfkkifdeak taqekdslit phvsrsstpr espcgkiava vleettrert dviqgddvad
     1561 aasevevsst setttkavvs ppkfvfgses vkrifsseks npfafgnssa tgslfgfsfn
     1621 aplksndset ssvaqsgses kvepkkcels knsdieqssd skvknlsasf pmeessinyt
     1681 fktpekeppl whaeftkeel vqklssttks adqlngllre teatsavlme qikllkseir
     1741 rlernqeesa anvehlknvl lqfiflkpgs eresllpvin tmlqlspeek gklaavaqgl
     1801 qetsipkkk
//
LOCUS       XP_016862017             490 aa            linear   PRI 20-MAR-2023
DEFINITION  protein SSUH2 homolog isoform X5 [Homo sapiens].
ACCESSION   XP_016862017
VERSION     XP_016862017.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017006528.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..490
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..490
                     /product="protein SSUH2 homolog isoform X5"
                     /calculated_mol_wt=54482
     Region          <254..>361
                     /region_name="DnaJ"
                     /note="DnaJ-class molecular chaperone with C-terminal Zn
                     finger domain [Posttranslational modification, protein
                     turnover, chaperones]; COG0484"
                     /db_xref="CDD:223560"
     CDS             1..490
                     /gene="SSUH2"
                     /gene_synonym="C3orf32; fls485; SSU-2"
                     /coded_by="XM_017006528.2:388..1860"
                     /db_xref="GeneID:51066"
                     /db_xref="HGNC:HGNC:24809"
                     /db_xref="MIM:617479"
ORIGIN      
        1 mtgffkgaed rysshlwrpq ggprskgpgp rswntgrtll ppgshlwplq ptvslvlpsm
       61 dlktdgplcv pgledagdts vqncglmalr aamekcmkmq geeggffplg gvgarktsen
      121 lprshaghpf twsplqemps pvgllralpl pwpqflactl rrlagprest gpsqkppplc
      181 svpcrvpamt eevarealls fvdskccyss tvagdlviqe lkrqtlcryr letfsesris
      241 ewtfqpftnh svdgpqrgas prlwdikvqg ppmfqedtrk fqvphsslvk echkchgrgr
      301 ykcsgchgag tvrcpsccga krkakqsrrc qlcagsgrrr cstcsgrgnk tcatckgekk
      361 llhfiqlvim wknslfefvs ehrlncprel lakakgenlf kdensvvypi vdfplrdisl
      421 asqrgiaehs aalasrarvl qqrqtielip ltevhywyqg ktyvyyiygt dhqvyavdyp
      481 eryccgctiv
//
LOCUS       XP_011512597             263 aa            linear   PRI 20-MAR-2023
DEFINITION  inositol hexakisphosphate kinase 3 isoform X3 [Homo sapiens].
ACCESSION   XP_011512597
VERSION     XP_011512597.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514295.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..263
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..263
                     /product="inositol hexakisphosphate kinase 3 isoform X3"
                     /calculated_mol_wt=29297
     Region          198..>256
                     /region_name="IPK"
                     /note="Inositol polyphosphate kinase; cl12283"
                     /db_xref="CDD:416457"
     CDS             1..263
                     /gene="IP6K3"
                     /gene_synonym="IHPK3; INSP6K3"
                     /coded_by="XM_011514295.4:328..1119"
                     /db_xref="GeneID:117283"
                     /db_xref="HGNC:HGNC:17269"
                     /db_xref="MIM:606993"
ORIGIN      
        1 mvvqnsadag dmragvqlep flhqvgghms vmkydehtvc kplvsreqrf yeslplamkr
       61 ftpqykgtvt vhlwkdstgh lslvanpvke sqepfkvste saavaiwqtl qqttgsngsd
      121 ctlaqwphaq larspkespa kallrsephl ntpafslved tngnqverks fnpwglqchq
      181 ahltrlcsey penkrhrfll lenvvsqyth pcvldlkmgt rqhgddasee kkarhmrkca
      241 qstsaclgvr icgmqmsfgk pgm
//
LOCUS       XP_016866551             124 aa            linear   PRI 20-MAR-2023
DEFINITION  dual specificity protein phosphatase 22 isoform X2 [Homo sapiens].
ACCESSION   XP_016866551
VERSION     XP_016866551.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017011062.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..124
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..124
                     /product="dual specificity protein phosphatase 22 isoform
                     X2"
                     /calculated_mol_wt=14344
     Region          <4..90
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     Site            order(28..29,32..34)
                     /site_type="active"
                     /db_xref="CDD:350344"
     CDS             1..124
                     /gene="DUSP22"
                     /gene_synonym="JKAP; JSP-1; JSP1; LMW-DSP2; LMWDSP2;
                     MKP-x; MKPX; VHX"
                     /coded_by="XM_017011062.2:69..443"
                     /db_xref="GeneID:56940"
                     /db_xref="HGNC:HGNC:16077"
                     /db_xref="MIM:616778"
ORIGIN      
        1 mkrtrhfkes ikfihecrlr gesclvhcla gvsrsvtlvi ayimtvtdfg wedalhtvra
       61 grscanpnvg fqrqlqefek hevhqyrqwl keeygesplq daeeaknila apgilkfwaf
      121 lrrl
//
LOCUS       XP_016866563             413 aa            linear   PRI 20-MAR-2023
DEFINITION  probable arginine--tRNA ligase, mitochondrial isoform X2 [Homo
            sapiens].
ACCESSION   XP_016866563
VERSION     XP_016866563.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017011074.3
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 7% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..413
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..413
                     /product="probable arginine--tRNA ligase, mitochondrial
                     isoform X2"
                     /calculated_mol_wt=46962
     Region          <2..401
                     /region_name="ArgS"
                     /note="Arginyl-tRNA synthetase [Translation, ribosomal
                     structure and biogenesis]; COG0018"
                     /db_xref="CDD:223097"
     CDS             1..413
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /coded_by="XM_017011074.3:613..1854"
                     /db_xref="GeneID:57038"
                     /db_xref="HGNC:HGNC:21406"
                     /db_xref="MIM:611524"
ORIGIN      
        1 mqfgllgtgf qlfgyeeklq snplqhlfev yvqvnkeaad dksvakaaqe ffqrlelgdv
       61 qalslwqkfr dlsieeyirv ykrlgvyfde ysgesfyrek sqevlklles kglllktikg
      121 tavvdlsgng dpssictvmr sdgtslyatr dlaaaidrmd kynfdtmiyv tdkgqkkhfq
      181 qvfqmlkimg ydwaercqhv pfgvvqgmkt rrgdvtfled vlneiqlrml qnmasikttk
      241 elknpqetae rvglaaliiq dfkglllsdy kfswdrvfqs rgdtgvflqy tharlhslee
      301 tfgcgylndf ntaclqepqs vsilqhllrf devlykssqd fqprhivsyl ltlshlaava
      361 hktlqikdsp pevagarlhl fkavrsvlan gmkllgitpm efrsccpgws amv
//
LOCUS       XP_047276456             469 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA polymerase delta subunit 2 isoform X3 [Homo sapiens].
ACCESSION   XP_047276456
VERSION     XP_047276456.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420500.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..469
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..469
                     /product="DNA polymerase delta subunit 2 isoform X3"
                     /calculated_mol_wt=51159
     Region          49..176
                     /region_name="DNA_pol_D_N"
                     /note="DNA polymerase delta subunit OB-fold domain;
                     pfam18018"
                     /db_xref="CDD:436215"
     Region          215..452
                     /region_name="MPP_PolD2_C"
                     /note="PolD2 (DNA polymerase delta, subunit 2), C-terminal
                     domain; cd07387"
                     /db_xref="CDD:277333"
     Site            order(216,220,222..227,277,281,284..285,288..289,448..452)
                     /site_type="other"
                     /note="PolD3 binding site [polypeptide binding]"
                     /db_xref="CDD:277333"
     CDS             1..469
                     /gene="POLD2"
                     /coded_by="XM_047420500.1:73..1482"
                     /db_xref="GeneID:5425"
                     /db_xref="HGNC:HGNC:9176"
                     /db_xref="MIM:600815"
ORIGIN      
        1 mfseqaaqra htllsppsan natfarvpva tytnssqpfr lgersfsrqy ahiyatrliq
       61 mrpflenraq qhwgsgvgvk klcelqpeek ccvvgtlfka mplqpsilre vseehnllpq
      121 pprskyihpd delvledelq riklkgtidv sklvtgtvla vfgsvrddgk flvedycfad
      181 lapqkpappl dtdrfvllvs glglggggge sllgtqllvd vvtgqlgdeg eqcsaahvsr
      241 vilagnllsh stqsrdsink akyltkktqa asveavkmld eillqlsasv pvdvmpgefd
      301 ptnytlpqqp lhpcmfplat aystlqlvtn pyqatidgvr flgtsgqnvs difryssmed
      361 hleilewtlr vrhisptapd tlgcypfykt dpfifpecph vyfcgntpsf gskiirgped
      421 qtvllvtvpd fsatqtaclv nlrslacqpi sfsgfgaedd dlgglglgp
//
LOCUS       XP_024302903             305 aa            linear   PRI 20-MAR-2023
DEFINITION  calcium uptake protein 3, mitochondrial isoform X11 [Homo sapiens].
ACCESSION   XP_024302903
VERSION     XP_024302903.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024447135.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..305
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..305
                     /product="calcium uptake protein 3, mitochondrial isoform
                     X11"
                     /calculated_mol_wt=34163
     Region          236..>305
                     /region_name="EFh_MICU"
                     /note="EF-hand, calcium binding motif, found in
                     mitochondrial calcium uptake proteins MICU1, MICU2, MICU3,
                     and similar proteins; cl28896"
                     /db_xref="CDD:333716"
     Region          236..265
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320080"
     CDS             1..305
                     /gene="MICU3"
                     /gene_synonym="EFHA2"
                     /coded_by="XM_024447135.2:43..960"
                     /db_xref="GeneID:286097"
                     /db_xref="HGNC:HGNC:27820"
                     /db_xref="MIM:610633"
ORIGIN      
        1 maalrrllwp pprvspplca hqpllgpwgr pavttlglpg rpfssredee ravaeaawrr
       61 rrrwgelsva aaaggglvgl vcyqlygdpr agspatgrps ksaatepedp prgrgmlpip
      121 vaaaketvai grtdiedldl yatsrerrfr lfasiecegq lfmtpydfil avttdepkva
      181 ktwkslskqe lnqmlaetpp vwkgssklfr nlkekgvisy teylfllcil tkphagfria
      241 fnmfdtdgne mvdkkeflvl qeifrkknek reikgdeekr amlqylksyv eradsqamfl
      301 qntac
//
LOCUS       XP_054188144             414 aa            linear   PRI 20-MAR-2023
DEFINITION  p21-activated protein kinase-interacting protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054188144
VERSION     XP_054188144.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332169.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_018654713.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..414
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.3-24.2"
     Protein         1..414
                     /product="p21-activated protein kinase-interacting protein
                     1 isoform X1"
                     /calculated_mol_wt=46313
     CDS             1..414
                     /gene="PAK1IP1"
                     /gene_synonym="bA421M1.5; hPIP1; MAK11; PIP1; WDR84"
                     /coded_by="XM_054332169.1:16..1260"
                     /db_xref="GeneID:55003"
                     /db_xref="HGNC:HGNC:20882"
                     /db_xref="MIM:607811"
ORIGIN      
        1 mlssnpvkqy lncsrtsrrq npsasefkke glysagifgk thvsnnqapq qwtlvadfth
       61 hahtaslsav avnsrfvvtg skdetihiyd mkkkiehgal vhhsgtitcl kfygnrhlis
      121 gaedgliciw dakkweclks ikahkgqvtf lsihpsgkla lsvgtdktlr twnlvegrsa
      181 fiknikqnah ivewsprgeq yvviiqnkid iyqldtasis gtitnekris svkflsesvl
      241 avagdeevir ffdcdslvcl cefkahenrv kdmfsfeipe hhvivsassd gfikmwklkq
      301 dkkvppsllc eintnarltc lgvwldkvad mkeslppaae pspvskeqsk igkkepgdtv
      361 hkeekrskpn tkkrgltgds kkatkesgli stkkrkmvem lekkrkkkki ktmq
//
LOCUS       XP_054188616             802 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 17 isoform X11 [Homo sapiens].
ACCESSION   XP_054188616
VERSION     XP_054188616.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332641.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_021160019.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..802
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.1"
     Protein         1..802
                     /product="rho GTPase-activating protein 17 isoform X11"
                     /calculated_mol_wt=87189
     CDS             1..802
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /coded_by="XM_054332641.1:713..3121"
                     /db_xref="GeneID:55114"
                     /db_xref="HGNC:HGNC:18239"
                     /db_xref="MIM:608293"
ORIGIN      
        1 maadvsrnsl qahdnflaek tevlsedllq ierrldtvrs ichhshkrlv acfqgqhgtd
       61 aerrhkklpl talaqnmqea stqledsllg kmletcgdae nqlalelsqh evfvekeivd
      121 plygiaevei pniqkqrkql arlvldwdsv rarwnqahks sgtnfqglps kidtlkeemd
      181 eagnkveqck dqlaadmynf makegeygkf fvtlleaqad yhrkalavle ktlpemrahq
      241 dkwaekpafg tpleehlkrs greialpiea cvmllletgm keeglfriga gasklkklka
      301 aldcstshld efysdphava galksylrel peplmtfnly eewtqvasvq dqdkklqdlw
      361 rtcqklppqn fvnfrylikf laklaqtsdv nkmtpsniai vlgpnllwar negtlaemaa
      421 atsvhvvavi epiiqhadwf fpeevefnvs eafvplttps snhsfhtgnd sdsgtlerkr
      481 pasmavmegd lvkkesppkp kdpvsaavpa pgrnnsqias gqnqpqaaag shqlsmgqph
      541 naagpsphtl rravkkpapa ppkpgnpppg hpggqsssgt sqhppslspk pptrspsppt
      601 qhtgqppgqp sapsqlsapr ryssslspiq apnhpppqpp tqatplmhtk pnsqgppnpm
      661 alpsehgleq pshtppqtpt ppstpplgkq npslpapqtl aggnpetaqp hagtlprprp
      721 vpkprnrpsv ppppqppgvh sagdssltnt aptaskivtd snsrvsephr sifpemhsds
      781 askdvpgril ldidndtest al
//
LOCUS       XP_054190437             252 aa            linear   PRI 20-MAR-2023
DEFINITION  putative deoxyribonuclease TATDN3 isoform X2 [Homo sapiens].
ACCESSION   XP_054190437
VERSION     XP_054190437.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334462.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..252
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..252
                     /product="putative deoxyribonuclease TATDN3 isoform X2"
                     /calculated_mol_wt=27721
     CDS             1..252
                     /gene="TATDN3"
                     /coded_by="XM_054334462.1:29..787"
                     /db_xref="GeneID:128387"
                     /db_xref="HGNC:HGNC:27010"
ORIGIN      
        1 mraagvglvd chchlsapdf drdlddvlek akkanvvalv avaehsgefe kimqlseryn
       61 gfvlpclgvh pvqglppedq rsvtlkvgld fsprfagtge qkeeqrqvli rqiqlakrln
      121 lpvnvhsrsa grptinllqe qgaekvllha fdgrpsvame gvragyffsi ppsiirsgqq
      181 klvkqlplts icletdspal gpekqvrnep wnisisaeyi aqvkgisvee vievttqnal
      241 klfpklrhll qk
//
LOCUS       XP_054221281            1579 aa            linear   PRI 20-MAR-2023
DEFINITION  peroxisome proliferator-activated receptor gamma
            coactivator-related protein 1 isoform X9 [Homo sapiens].
ACCESSION   XP_054221281
VERSION     XP_054221281.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365306.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1579
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1579
                     /product="peroxisome proliferator-activated receptor gamma
                     coactivator-related protein 1 isoform X9"
                     /calculated_mol_wt=168339
     CDS             1..1579
                     /gene="PPRC1"
                     /gene_synonym="PRC"
                     /coded_by="XM_054365306.1:30..4769"
                     /db_xref="GeneID:23082"
                     /db_xref="HGNC:HGNC:30025"
                     /db_xref="MIM:617462"
ORIGIN      
        1 maarrgrrdg vapppsggpg pdpgggargs gwgsrsqapy gtlgavsgge qvllheeagd
       61 sgfvslsrlg pslrdkdlem eelmlqdetl lgtmqsymda slisliedfg slgevemslp
      121 dpswdfspps fletsspklp swrpprsrpr wgqspppqqr sdgeeeeeva sfsgqilage
      181 ldncvssipd fpmhlacpee edkataaema vpaagdesis slselvramh pyclpnlthl
      241 asledelqeq pddltlpegc vvleivgqaa tagddleipv vvrqvspgpr pvllddslet
      301 ssalqllmpt leseteaavp kvtlcsekeg lslnseekld sacllkprev vepvvpkepq
      361 nppanaapgs qrarkgrkkk skeqpaacve gyarrlrsss rgqstvgtev tsqvdnlqkq
      421 pqeelqkesg plqgkgkpra warawaaale nsspknlers agqsspakeg pldlypklad
      481 tiqtnpipth lslvdsaqas pmpvdsvead ptavgpvlag pvpvdpglvd lastsselve
      541 plpaepvlin pvladsaavd pavvpisdnl ppvdavpsgp apvdlalvdp vpndltpvdp
      601 vlvksrptdp rrgavssalg gsapqllves esldppktii pevkevvdsl kiesgtsatt
      661 hearprplsl seyrrrrqqr qaeteerspq pptgkwpslp etptgladip clvippapak
      721 ktalqrspet pleiclvpvg pspaspspep pvskpvassp teqvpsqemp llarpsppvq
      781 svspavptpp smsaalpfpa gglgmppslp ppplqppslp lsmgpvlpdp fthyaplpsw
      841 pcyphvspsg ypclpppptv plvsgtpgay avpptcsvpw apppapvspy sstctygplg
      901 wgpgpqhapf wstvpppplp pasigravpq pkmesrgtpa gppenvlpls mapplslglp
      961 ghgapqtept kvevkpvpas phpkhkvsal vqspqmkala cvsaegvtve epaserlkpe
     1021 tqetrprekp plpatkavpt prqstvpklp avhparlrkl sflptprtqg sedvvqafis
     1081 eigieasdls slleqfekse akkecpppap adslavgnsg gvdipqekrp ldrlqapela
     1141 nvagltppat pphqlwkpla avsllakaks pkstaqegtl kpegvteakh paavrlqegv
     1201 hgpsrvhvgs gdhdycvrsr tppkkmpalv ipevgsrwnv krhqditikp vlslgpaapp
     1261 ppciaasrep ldhrtsseqa dpsapclaps sllspeaspc rndmntrtpp epsakqrsmr
     1321 cyrkacrsas pssqgwqgrr grnsrsvssg snrtseasss ssssssssrs rsrslspphk
     1381 rwrrsscsss grsrrcssss ssssssssss ssssssrsrs rspsprrrsd rrrrsyrshd
     1441 hyqrqrvlqk eraieerrvv figkipgrmt rselkqrfsv fgeieectih frvqgdnygf
     1501 vtyryaeeaf aaiesghklr qadeqpfdlc fggrrqfckr sysdldsnre dfdpapvksk
     1561 fdsldfdtll kqaqknlrr
//
LOCUS       XP_054222263             367 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B
            delta isoform isoform X5 [Homo sapiens].
ACCESSION   XP_054222263
VERSION     XP_054222263.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366288.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..367
                     /product="serine/threonine-protein phosphatase 2A 55 kDa
                     regulatory subunit B delta isoform isoform X5"
                     /calculated_mol_wt=42144
     CDS             1..367
                     /gene="PPP2R2D"
                     /gene_synonym="B55D; B55delta; MDS026"
                     /coded_by="XM_054366288.1:1523..2626"
                     /db_xref="GeneID:55844"
                     /db_xref="HGNC:HGNC:23732"
                     /db_xref="MIM:613992"
ORIGIN      
        1 mpclsdsvrr tgagealssc pwrlrwkecp arqtqcsdag qarrsasarg gfggrnalhi
       61 glcssagnks rphsrgeynv ystfqshepe fdylksleie ekinkirwlp qqnaahflls
      121 tndktiklwk iserdkraeg ynlkdedgrl rdpfritalr vpilkpmdlm veasprrifa
      181 nahtyhinsi svnsdhetyl saddlrinlw hleitdrsfn ivdikpanme eltevitaae
      241 fhphqcnvfv yssskgtirl cdmrssalcd rhskffeepe dpssrsffse iissisdvkf
      301 shsgrymmtr dylsvkvwdl nmesrpveth qvheylrskl cslyendcif dkfeccwngs
      361 dshvhsf
//
LOCUS       XP_054223625             275 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 45B isoform X1 [Homo sapiens].
ACCESSION   XP_054223625
VERSION     XP_054223625.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367650.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..275
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..275
                     /product="transmembrane protein 45B isoform X1"
                     /calculated_mol_wt=31695
     CDS             1..275
                     /gene="TMEM45B"
                     /coded_by="XM_054367650.1:140..967"
                     /db_xref="GeneID:120224"
                     /db_xref="HGNC:HGNC:25194"
ORIGIN      
        1 manfkghalp gsffliiglc wsvkyplkyf shtrknsplh yyqrleivea airtlfsvtg
       61 ilaeqfvpdg phlhlyhenh wiklmnwqhs tmylffavsg ivdmltylvs hvplgvdrlv
      121 mavavfmegf lfyyhvhnrp pldqhihsll lyalfggcvs islevifrdh ivlelfrtsl
      181 iilqgtwfwq igfvlfppfg tpewdqkdda nlmfitmcfc whylaalsiv avnyslvycl
      241 ltrmkrhgrg eiigiqklns ddtyqtalls gsdee
//
LOCUS       XP_054229247            2482 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 290 kDa isoform X13 [Homo sapiens].
ACCESSION   XP_054229247
VERSION     XP_054229247.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373272.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2482
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2482
                     /product="centrosomal protein of 290 kDa isoform X13"
                     /calculated_mol_wt=290626
     CDS             1..2482
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /coded_by="XM_054373272.1:217..7665"
                     /db_xref="GeneID:80184"
                     /db_xref="HGNC:HGNC:29021"
                     /db_xref="MIM:610142"
ORIGIN      
        1 mppninwkei mkvdpddlpr qeeladnlli slskvevnel ksekqenvih lfritqslmk
       61 mkaqevelal eevekageeq akfenqlktk vmklenelem aqqsaggrdt rflrneicql
      121 ekqleqkdre ledmekelek ekkvneqlal rneeaenens klrrenkrlk kkneqlcqdi
      181 idyqkqidsq ketllsrrge dsdyrsqlsk knyeliqyld eiqtlteane kievqnqemr
      241 knleesvqem ekmtdeynrm kaivhqtdnv idqlkkendh yqlqvqeltd llkskneedd
      301 pimvavnakv eewklilssk ddeiieyqqm lhnlreklkn aqldadksnv malqqgiqer
      361 dsqikmlteq veqytkemek ntciiedlkn elqrnkgast lsqqthmkiq stldilkekt
      421 keaertaela eadarekdke lvealkrlkd yesgvygled avveiknckn qikirdreie
      481 iltkeinkle lkisdflden ealrervgle pktmidltef rnskhlkqqq yraenqillk
      541 eiesleeerl dlkkkirqma qergkrsats glttedlnlt enisqgdris erkldllslk
      601 nmseaqskne flsrelieke rdlersrtvi akfqnklkel veenkqleeg mkeilqaike
      661 mqkdpdvkgg etsliipsle rlvnaieskn aegifdaslh lkaqvdqltg rneelrqelr
      721 esrkeainys qqlakanlki dhleketsll rqsegsnvvf kgidlpdgia pssasiinsq
      781 neylihllqe lenkekklkn ledsledynr kfavirhqqs llykeylsek etwkteskti
      841 keekrkledq vqqdaikvke ynnllnalqm dsdemkkila ensrkitvlq vnekslirqy
      901 ttlvelerql rkenekqkne llsmeaevce kigclqrfke maifkiaalq kvvdnsvsls
      961 elelankqyn eltakyrdil qkdnmlvqrt snlehlecen islkeqvesi nkeleitkek
     1021 lhtieqaweq etklgnessm dkakksitns divsiskkit mlemkelner qraehcqkmy
     1081 ehlrtslkqm eernfeletk faeltkinld aqkveqmlrd eladsvskav sdadrqrile
     1141 leknemelkv evsklreisd iarrqveiln aqqqsrdkev eslrmqlldy qaqsdeksli
     1201 aklhqhnvsl qlseatalgk lesitsklqk meaynlrleq kldekeqaly yarlegrnra
     1261 khlrqtiqsl rrqfsgalpl aqqekfsktm iqlqndklki mqemknsqqe hrnmenktle
     1321 melklkglee listlkdtkg aqkvinwhmk ieelrlqelk lnrelvkdke eikylnniis
     1381 eyertissle eeivqqnkfh eerqmawdqr evdlerqldi fdrqqneiln aaqkfeeatg
     1441 sipdpslplp nqleialrki keniriilet ratcksleek lkekesalrl aeqnilsrdk
     1501 vinelrlrlp ataereklia elgrkemepk shhtlkiahq tianmqarln qkeevlkkyq
     1561 rllekareeq reivkkheed lhilhhrlel qadsslnkfk qtawdlmkqs ptpvptnkhf
     1621 irlaemeqtv aeqddslssl lvklkkvsqd lerqreitel kvkefenikl qlqenhedev
     1681 kkvkaevedl kylldqsqke sqclkselqa qkeansrapt ttmrnlverl ksqlalkekq
     1741 qkalsralle lraemtaaae eriisatsqk eahlnvqqiv drhtrelktq vedlnenllk
     1801 lkealktskn rensltdnln dlnnelqkkq kaynkilrek eeidqendel krqikrltsg
     1861 lqgkpltdnk qslieelqrk vkklenqleg kveevdlkpm keknakeeli rweegkkwqa
     1921 kiegirnklk ekegevftlt kqlntlkdlf akadkekltl qrklkttgmt vdqvlgiral
     1981 esekeleelk krnldlendi lymrahqalp rdsvvedlhl qnrylqeklh alekqfskdt
     2041 yskpsqnqis giesddhcqr eqelqkenlk lssenielkf qleqankdlp rlknqvrdlk
     2101 emceflkkek aevqrklghv rgsgrsgkti pelektiglm kkvvekvqre neqlkkasgi
     2161 ltsekmanie qeneklkael eklkahlghq lsmhyesktk gtekiiaene rlrkelkket
     2221 daaeklriak nnleilnekm tvqleetgkr lqfaesrgpq legadskswk sivvtrmyet
     2281 klkeletdia kknqsitdlk qlvkeatere qkvnkynedl eqqikilkhv pegaeteqgl
     2341 krelqvlrla nhqldkekae lihqieankd qsgaestipd adqlkekikd letqlkmsdl
     2401 ekqhlkeeik klkkelenfd psffeeiedl kynykeevkk nilleekvkk lseqlgvelt
     2461 spvaaseefe deeespvnfp iy
//
LOCUS       XP_054229870            2209 aa            linear   PRI 20-MAR-2023
DEFINITION  kinetochore-associated protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054229870
VERSION     XP_054229870.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373895.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2209
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2209
                     /product="kinetochore-associated protein 1 isoform X1"
                     /calculated_mol_wt=250619
     CDS             1..2209
                     /gene="KNTC1"
                     /gene_synonym="ROD"
                     /coded_by="XM_054373895.1:368..6997"
                     /db_xref="GeneID:9735"
                     /db_xref="HGNC:HGNC:17255"
                     /db_xref="MIM:607363"
ORIGIN      
        1 mwndielltn ddtgsgylsv gsrkehgtal yqvdllvkis sekaslnpki qacslsdgfi
       61 ivadqsvill dsicrslqlh lvfdtevdvv glcqegkfll vgersgnlhl ihvtskqtll
      121 tnafvqkand enrrtyqnlv iekdgsnegt yymllltysg ffcitnlqll kiqqaienvd
      181 fstakklqgq ikssfisten yhtlgclslv agdlasevpv iiggtgncaf skwepdsskk
      241 gmtvknlida eiikgakkfq lidnllfvld tdnvlslwdi ytltpvwnwp slhveefllt
      301 teadspssvt wqgitnlkli altasankkm knlmvyslpt meilyslevs svsslvqtgi
      361 stdtiylleg vckndpklse dsvsvlvlrc ltealpenrl srllhkhrfa eaesfaiqfg
      421 ldvelvykvk snhileklal ssvdaseqte wqqlvddake nlhkiqddef vvnyclkaqw
      481 ityettqeml nyaktrllkk edktaliysd glkevlraha klttfygafg pekfsgsswi
      541 eflnneddlk diflqlkegn lvcaqylwlr hranfesrfd vkmlesllns msasvslqkl
      601 cpwfkndvip fvrrtvpegq iilakwleqa arnleltdka nwpenglqla eifftaektd
      661 elglasswhw islkdyqnte evcqlrtlvn nlrelitlhr kyncklalsd fekentttiv
      721 frmfdkvlap elipsilekf irvymrehdl qeeellllyi edllnrcssk stslfetawe
      781 akamaviacl sdtdlifdav lkimyaavvp wsaaveqlvk qhlemdhpkv kllqesyklm
      841 emkkllrgyg irevnllnke imrvvryilk qdvpssleda lkvaqafmls ddeiyslrii
      901 dlidreqged cllllkslpp aeaektaerv iiwarlalqe epdhskegka wrmsvaktsv
      961 dilkilcdiq kdnlqkkdec eemlklfkev aslqenfevf lsfedysnss lvadlreqhi
     1021 kahevaqakh kpgstpepia aevrspsmes klhrqalalq mskqeleael tlralkdgni
     1081 ktalkkcsdl fkyhcnadtg kllfltcqkl cqmladnvpv tvpvglnlps mihdlasqaa
     1141 ticspdflld alelckhtlm avelsrqcqm ddcgilmkas fgthkdpyee wsysdffsed
     1201 givlesqmvl pviyelissl vplaeskryp lestslpycs lnegdglvlp vinsisallq
     1261 nlqessqwel alrfvvgsfg tclqhsvsnf mnatlseklf gettlvksrh vvmelkekav
     1321 ifirenattl lhkvfncrlv dldlalgyct llpqkdvfen lwklidkawq nydkilaisl
     1381 vgselaslyq eiemglkfre lstdaqwgir lgklgisfqp vfrqhfltkk dlikalveni
     1441 dmdtsliley cstfqldcda vlqlfietll hntnagqgqg dasmdsakrr hpkllakale
     1501 mvplltstkd lvislsgilh kldpydyemi evvlkviera dekitninin qalsilkhlk
     1561 syrrisppvd leyqymlehv itlpsaaqtr lpfhliffgt aqnfwkilst elseesfptl
     1621 llisklmkfs ldtlyvstak hvfekklkpk llkltqakss tlinkeitki tqtiesclls
     1681 ivnpewavai aislaqdipe gsfkisalkf clylaerwlq nipsqdekre kaeallkklh
     1741 iqyrrsgtea vliahklnte eylrvigkpa hlivslyehp sinqriqnss gtdypdihaa
     1801 akeiaevnei nlekvwdmll ekwlcpstkp gekpselfel qedealrrvq ylllsrpidy
     1861 ssrmlfvfat sttttlgmhq ltfahrtral qclfyladke tieslfkkpi eevksylrci
     1921 tflasfetln ipityelfcs spkegmikgl wknhshesma vrlvtelcle ykiydlqlwn
     1981 gllqkllgfn mipylrkvlk aissihslwq vpyfskawqr viqipllsas cplspdqlsd
     2041 csesliavle cpvsgdldli gvarqyiqle lpafalaclm lmphsekrhq qiknflgscd
     2101 pqvilkqlee hmntgqlagf shqirsliln niinkkefgi laktkyfqml kmhamntnni
     2161 telvnyland lsldeasvli teyskhcgkp vppdtapcei lkmflsgls
//
LOCUS       XP_054231357             614 aa            linear   PRI 20-MAR-2023
DEFINITION  FERM domain-containing protein 6 isoform X2 [Homo sapiens].
ACCESSION   XP_054231357
VERSION     XP_054231357.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375382.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..614
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..614
                     /product="FERM domain-containing protein 6 isoform X2"
                     /calculated_mol_wt=70851
     CDS             1..614
                     /gene="FRMD6"
                     /gene_synonym="C14orf31; c14_5320; EX1; Willin"
                     /coded_by="XM_054375382.1:452..2296"
                     /db_xref="GeneID:122786"
                     /db_xref="HGNC:HGNC:19839"
                     /db_xref="MIM:614555"
ORIGIN      
        1 mnklnfhnnr vmqdrrsvci flpndeslni iinvkilchq llvqvcdllr lkdchlfgls
       61 viqnnehvym elsqklykyc pkewkkeask gidqfgppmi ihfrvqyyve ngrlisdraa
      121 ryyyywhlrk qvlhsqcvlr eeayfllaaf alqadlgnfk rnkhygkyfe peayfpswvv
      181 skrgkdyilk hipnmhkdqf altaseahlk yikeavrldd vavhyyrlyk dkreieaslt
      241 lgltmrgiqi fqnldeekql lydfpwtnvg klvfvgkkfe ilpdglpsar kliyytgcpm
      301 rsrhllqlls nshrlymnlq pvlrhirkle eneekkqyre syisdnldld mdqlekrsra
      361 sgssagsmkh krlsrhstas hssshtsgie adtkprdtgp edsysssaih rklktcssmt
      421 shgsshtsgv esggkdrlee dlqddeieml vddprdleqm neeslevspd mciyitedml
      481 msrklnghsg livkeigsst ssssetvvkl rgqstdslpq ticrkpktst drhslslddi
      541 rlyqkdflri aglcqdtaqs ytfgcgheld eeglycnscl aqqciniqda fpvkrtskyf
      601 sldlthdevp efvv
//
LOCUS       XP_054234729             872 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin-protein ligase E3A isoform X2 [Homo sapiens].
ACCESSION   XP_054234729
VERSION     XP_054234729.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378754.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..872
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..872
                     /product="ubiquitin-protein ligase E3A isoform X2"
                     /calculated_mol_wt=99971
     CDS             1..872
                     /gene="UBE3A"
                     /gene_synonym="ANCR; AS; E6-AP; EPVE6AP; HPVE6A; PIX1"
                     /coded_by="XM_054378754.1:861..3479"
                     /db_xref="GeneID:7337"
                     /db_xref="HGNC:HGNC:12496"
                     /db_xref="MIM:601623"
ORIGIN      
        1 matackrsge pqsddieasr mkraaakhli eryyhqlteg cgneactnef cascptflrm
       61 dnnaaaikal elykinaklc dphpskkgas saylenskga pnnscseikm nkkgaridfk
      121 dvtylteekv yeilelcrer edysplirvi grvfssaeal vqsfrkvkqh tkeelkslqa
      181 kdedkdedek ekaacsaaam eedseasssr igdssqgdnn lqklgpddvs vdidairrvy
      241 trllsnekie taflnalvyl spnvecdlty hnvysrdpny lnlfiivmen rnlhspeyle
      301 malplfckam sklplaaqgk lirlwskyna dqirrmmetf qqlitykvis nefnsrnlvn
      361 dddaivaask clkmvyyanv vggevdtnhn eeddeepipe sseltlqell geerrnkkgp
      421 rvdpletelg vktldcrkpl ipfeefinep lnevlemdkd ytffkveten kfsfmtcpfi
      481 lnavtknlgl yydnrirmys erritvlysl vqgqqlnpyl rlkvrrdhii ddalvrlemi
      541 amenpadlkk qlyvefegeq gvdeggvske ffqlvveeif npdigmftyd estklfwfnp
      601 ssfetegqft ligivlglai ynncildvhf pmvvyrklmg kkgtfrdlgd shpvlyqslk
      661 dlleyegnve ddmmitfqis qtdlfgnpmm ydlkengdki pitnenrkef vnlysdyiln
      721 ksvekqfkaf rrgfhmvtne splkylfrpe eiellicgsr nldfqaleet teydggytrd
      781 svlirefwei vhsftdeqkr lflqfttgtd rapvgglgkl kmiiakngpd terlptshtc
      841 fnvlllpeys skeklkerll kaityakgfg ml
//
LOCUS       XP_054176794             567 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 181 isoform X3 [Homo sapiens].
ACCESSION   XP_054176794
VERSION     XP_054176794.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320819.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..567
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..567
                     /product="zinc finger protein 181 isoform X3"
                     /calculated_mol_wt=65243
     CDS             1..567
                     /gene="ZNF181"
                     /gene_synonym="HHZ181"
                     /coded_by="XM_054320819.1:796..2499"
                     /db_xref="GeneID:339318"
                     /db_xref="HGNC:HGNC:12971"
                     /db_xref="MIM:606741"
ORIGIN      
        1 mpqvtfndva idftheewgw lssaqrdlyk dvmvqnyenl vsvaglsvtk pyvitlledg
       61 kepwmmekkl skdwesrwen kelstkkdny dedspqtvii ekvvkqsyef snskknleyi
      121 eklegkhgsq vdhfrpailt sresptadsv ykynifrstf hskstlsepq kisaegnshk
      181 ydilkknlpk ksviknekvn ggkkllnsnk sgaafsqgks ltlpqtcnre kiytcsecgk
      241 afgkqsilnr hwrihtgekp yecrecgktf shgssltrhl ishsgekpyk ciecgkafsh
      301 vssltnhqst htgekpyecm ncgksfsrvs hliehlriht qeklyecric gkafihrssl
      361 ihhqkihtge kpyecrecgk afccsshltr hqrihtmekq yecnkclkvf sslsflvqhq
      421 sihteekpfe cqkcrksfnq leslnmhlrn hirlkpyecs icgkafshrs sllqhhriht
      481 gekpyecikc gktfscssnl tvhqrihtge kpykcnecgk afskgsnlta hqrvhngekp
      541 nsvvsvekpl dymnhytcek sysretv
//
LOCUS       XP_054178209             391 aa            linear   PRI 20-MAR-2023
DEFINITION  pre-B-cell leukemia transcription factor 4 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054178209
VERSION     XP_054178209.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322234.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..391
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..391
                     /product="pre-B-cell leukemia transcription factor 4
                     isoform X1"
                     /calculated_mol_wt=42635
     CDS             1..391
                     /gene="PBX4"
                     /coded_by="XM_054322234.1:59..1234"
                     /db_xref="GeneID:80714"
                     /db_xref="HGNC:HGNC:13403"
                     /db_xref="MIM:608127"
ORIGIN      
        1 maapprpaps ppaprrldts dvlqqimait dqsldeaqar khalnchrmk palfsvlcei
       61 kektassflt rpceettkqa flvsirgiqd edppdaqllr ldnmllaegv crpekrgrgg
      121 avaragtatp ggcpndnsie hsdyraklsq irqiyhsele kyeqacreft thvtnllqeq
      181 srmrpvspke iermvgaihg kfsaiqmqlk qstceavmtl rsrlldarrk rrnfskqate
      241 vlneyfyshl nnpypseeak eelarkgglt isqvsnwfgn krirykknmg kfqeeatiyt
      301 gktavdttev gvpgnhascl stpssgssgp fplpsagdaf ltlrtlaslq pppgggclqs
      361 qaqgswqgat pqpataspag dpgsinssts n
//
LOCUS       XP_054197299            1366 aa            linear   PRI 20-MAR-2023
DEFINITION  sushi, nidogen and EGF-like domain-containing protein 1 isoform X6
            [Homo sapiens].
ACCESSION   XP_054197299
VERSION     XP_054197299.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341324.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1366
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1366
                     /product="sushi, nidogen and EGF-like domain-containing
                     protein 1 isoform X6"
                     /calculated_mol_wt=147153
     CDS             1..1366
                     /gene="SNED1"
                     /gene_synonym="IRE-BP1; Snep; SST3"
                     /coded_by="XM_054341324.1:83..4183"
                     /db_xref="GeneID:25992"
                     /db_xref="HGNC:HGNC:24696"
                     /db_xref="MIM:616634"
ORIGIN      
        1 mqlpsarpfl lvfegctlif ggpsvarsqh hptpgskrrd hggpelalgl dshcpgdaig
       61 lqlsrtilep gpgiggpvtr aprrasgsrq aldrkvnnng iisflkevsq ftpvafpiak
      121 drcvvaafwa dvdnrragdv yyreatdpam lrratedvrh yfpelldfna twvfvatwyr
      181 vtffggssss pvntfqtvli tdgklsftif nyesivwttg thassggnat glggiaaqag
      241 fnagdgqryf sipgsrtadm aevetttnvg vpgrwafrid daqvrvggcg httsvclalr
      301 pclnggkcid dcvtgnpsyt csclsgftgr rchldvneca sqpcqnggtc thginsfrcq
      361 cpagfggptc etaqspcdtk ecqhggqcqv engsavcvcq agytgaacem dvddcspdpc
      421 lnggscvdlv gnytclcaep fkglrcetgd hpvpdaclsa pchnggtcvd adqgyvcecp
      481 egfmgldcre rvpddcecrn ggrclgantt lcqcplgffg llcefeitam pcnmntqcpd
      541 ggycmehggs ylcvchtdhn ashslpspcd sdpcfnggsc dahddsytce cprgfhgkhc
      601 ekarphlcss gpcrnggtck eaggeyhcsc pyrftgrhce igkpdscasg pchnggtcfh
      661 yigkykcdcp pgfsgrhcei apspcfrspc vnggtcedrd tdffchcqag ymgrrcqaev
      721 dcgppeevkh atlrfngtrl gavalyacdr gyslsapsri rvcqphgvws eppqclerde
      781 crahpcrngg scrnlpgayv crcpagfvgv hcetevdacd sspcqhggrc esgggaylcv
      841 cpesffgyhc etvsdpcfss pcggrgycla sngshsctck vgytgedcak elfpptalkm
      901 erveesgvsi swnppngpaa rqmldgyavt yvssdgsyrr tdfvdrtrss hqlqalaagr
      961 aynisvfsvk rnsnnkndis rpavllartr prpvegfevt nvtastisvq walhrirhat
     1021 vsgvrvsirh pealrdqatd vdrsvdrftf rallpgkryt iqlttlsglr geehptesla
     1081 tapthvwtrp lppanltaar vtatsahvvw daptpgslle ayvinvttsq stksryvpng
     1141 klasytvrdl lpgrryqlsv iavqstelgp qhsepahlyi itsprdgadr rwhqgghhpr
     1201 vlknrpppar lpelrllndh sapetptqpp rfselvdgrg rvsarfggsp skaatvrshv
     1261 pgncsenpcq nggtcvpgad ahscdcgpgf kgrrcelaci kvsrpctrlf setkafpvwe
     1321 ggvchhvykr vyrvhqdicf kescestslk ktpnrkqsks qtleks
//
LOCUS       XP_054197529             478 aa            linear   PRI 20-MAR-2023
DEFINITION  mannose-1-phosphate guanyltransferase alpha isoform X1 [Homo
            sapiens].
ACCESSION   XP_054197529
VERSION     XP_054197529.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341554.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..478
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..478
                     /product="mannose-1-phosphate guanyltransferase alpha
                     isoform X1"
                     /calculated_mol_wt=52379
     CDS             1..478
                     /gene="GMPPA"
                     /gene_synonym="AAMR"
                     /coded_by="XM_054341554.1:69..1505"
                     /db_xref="GeneID:29926"
                     /db_xref="HGNC:HGNC:22923"
                     /db_xref="MIM:615495"
ORIGIN      
        1 mlkaviligg pqkgtrfrpl sfevpkplfp vagvpmiqhh ieacaqvpgm qeilligfyq
       61 pdepltqfle aaqqefnlpv rylqefaplg tggglyhfrd qilagspeaf fvlnadvcsd
      121 fplsamleah rrqrhpflll gttanrtqsl nygcivenpq thevlhyvek pstfisdiin
      181 cgiylfspea lkplrdvfqr nqqdgqfcla lgedspglwp gagtirleqd vfsalagqgq
      241 iyvhltdgiw sqiksagsal yasrlylsry qdthperlak htpggpwirg tqpapipnlw
      301 lppqpsepgf ltsspelkpq slplpdqirf gifaprasll llgnvyihpt akvapsavlg
      361 pnvsigkgvt vgegvrlres ivlhgatlqe htcvlhsivg wgstvgrwar vegtpsdpnp
      421 ndprarmdse slfkdgkllp aitilgcrvr ipaevlilns ivlphkelsr sftnqiil
//
LOCUS       XP_054202130             338 aa            linear   PRI 20-MAR-2023
DEFINITION  probable G-protein coupled receptor 160 isoform X1 [Homo sapiens].
ACCESSION   XP_054202130
VERSION     XP_054202130.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346155.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..338
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..338
                     /product="probable G-protein coupled receptor 160 isoform
                     X1"
                     /calculated_mol_wt=39656
     CDS             1..338
                     /gene="GPR160"
                     /gene_synonym="GPCR1; GPCR150"
                     /coded_by="XM_054346155.1:1344..2360"
                     /db_xref="GeneID:26996"
                     /db_xref="HGNC:HGNC:23693"
ORIGIN      
        1 mtalssencs fqyqlrqtnq pldvnyllfl iilgkillni ltlgmrrknt cqnfmeyfci
       61 slafvdllll vnisiilyfr dfvllsirft kyhiclftqi isftygflhy pvfltacidy
      121 clnfskttkl sfkcqklfyf ftviliwisv layvlgdpai yqslkaqnay srhcpfyvsi
      181 qsywlsffmv milfvafitc weevttlvqa iritsymnet ilyfpfsshs sytvrskkif
      241 lsklivcfls twlpfvllqv iivllkvqip ayiemnipwl yfvnsfliat vywfnchkln
      301 lkdiglpldp fvnwkccfip ltipnleqie kpisimic
//
LOCUS       XP_054203519             529 aa            linear   PRI 20-MAR-2023
DEFINITION  myotubularin-related protein 14 isoform X2 [Homo sapiens].
ACCESSION   XP_054203519
VERSION     XP_054203519.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347544.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..529
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..529
                     /product="myotubularin-related protein 14 isoform X2"
                     /calculated_mol_wt=58918
     CDS             1..529
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /coded_by="XM_054347544.1:167..1756"
                     /db_xref="GeneID:64419"
                     /db_xref="HGNC:HGNC:26190"
                     /db_xref="MIM:611089"
ORIGIN      
        1 marcrgrfvc pvilfkgkhi crsatlagwg elygrsgyny ffsggaddaw advedvteed
       61 calrsgdthl fdkvrgydik llrylsvkyi cdlmvenkkv kfgmnvtsse kvdkaqryad
      121 ftllsipypg ceffkeykdr dymaeglifn wkqdyvdapl sipdflthsl nidwsqyqcw
      181 dlvqqtqnyl klllslvnsd ddsgllvhci sgwdrtplfi sllrlslwad glihtslkpt
      241 eilyltvayd wflfghmlvd rlskgeeiff fcfnflkhit seefsalktq rrkslpardg
      301 gftledicml rrkdrgstts lgsdfslvme sspgatgsft yeavelvpag aptqaawrks
      361 hssspqsvlw nrpqpsedrl psqqglaear sssssssnhs dnffrmgssp levpkprsvd
      421 hplpgsslst dygswqmvtg cgsiqeravl htdsslpfsf pdelpnscll aalsdretrl
      481 qevrsaflaa ysstvglrav apspsgaigg lleqfargvg lrsissnal
//
LOCUS       XP_054206282             245 aa            linear   PRI 20-MAR-2023
DEFINITION  OCIA domain-containing protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054206282
VERSION     XP_054206282.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350307.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..245
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..245
                     /product="OCIA domain-containing protein 1 isoform X2"
                     /calculated_mol_wt=27495
     CDS             1..245
                     /gene="OCIAD1"
                     /gene_synonym="ASRIJ; OCIA; TPA018"
                     /coded_by="XM_054350307.1:129..866"
                     /db_xref="GeneID:54940"
                     /db_xref="HGNC:HGNC:16074"
                     /db_xref="MIM:619596"
ORIGIN      
        1 mngradfrep naevprpiph igpdyiptee errvfaecnd esfwfrsvpl aatsmlitqg
       61 liskgilssh pkygsipkli lacimgyfag klsyvktcqe kfkklenspl gealrsgqar
      121 rssppghyyq kskydssvsg qssfvtspaa dniemlphye pipfsssmne saptgitdhi
      181 vqgpdpnlee spkrknitye elrnknresy evsltqktdp svrpmhervp kkevkvnkyg
      241 dtwde
//
LOCUS       XP_054210406             330 aa            linear   PRI 20-MAR-2023
DEFINITION  leukocyte elastase inhibitor isoform X2 [Homo sapiens].
ACCESSION   XP_054210406
VERSION     XP_054210406.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354431.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..330
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..330
                     /product="leukocyte elastase inhibitor isoform X2"
                     /calculated_mol_wt=37445
     CDS             1..330
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
                     /coded_by="XM_054354431.1:538..1530"
                     /db_xref="GeneID:1992"
                     /db_xref="HGNC:HGNC:3311"
                     /db_xref="MIM:130135"
ORIGIN      
        1 mdslhgktfh fntveevhsr fqslnadink rgasyilkla nrlygektyn flpeflvstq
       61 ktygadlasv dfqhasedar ktinqwvkgq tegkipella sgmvdnmtkl vlvnaiyfkg
      121 nwkdkfmkea ttnapfrlnk kdrktvkmmy qkkkfaygyi edlkcrvlel pyqgeelsmv
      181 illpddiede stglkkieeq ltleklhewt kpenldfiev nvslprfkle esytlnsdla
      241 rlgvqdlfns skadlsgmsg ardifiskiv hksfvevnee gteaaaatag iatfcmlmpe
      301 enftadhpfl ffirhnssgs ilflgrfssp
//
LOCUS       XP_054210535             243 aa            linear   PRI 20-MAR-2023
DEFINITION  opsin-5 isoform X5 [Homo sapiens].
ACCESSION   XP_054210535
VERSION     XP_054210535.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354560.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..243
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..243
                     /product="opsin-5 isoform X5"
                     /calculated_mol_wt=26457
     CDS             1..243
                     /gene="OPN5"
                     /gene_synonym="GPR136; GRP136; PGR12; TMEM13"
                     /coded_by="XM_054354560.1:245..976"
                     /db_xref="GeneID:221391"
                     /db_xref="HGNC:HGNC:19992"
                     /db_xref="MIM:609042"
ORIGIN      
        1 mplvglgdyv pepfgtsctl dwwlaqasvg gqvfilnilf fclllptavi vfsyvkiiak
       61 vkssskevah fdsrihsshv lemkltkvam licagfliaw ipyavvsvws afgrpdsipi
      121 qlsvvptlla ksaamynpii yqvidykfac cqtgglkatk kkslegfrlh tvttvrkssa
      181 vleiheedkg rlwhqlscge nsemtasset lgtkahsplq etregeneav ggnnkcsgce
      241 eci
//
LOCUS       XP_054211475            1814 aa            linear   PRI 20-MAR-2023
DEFINITION  afadin isoform X36 [Homo sapiens].
ACCESSION   XP_054211475
VERSION     XP_054211475.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355500.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 6% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1814
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1814
                     /product="afadin isoform X36"
                     /calculated_mol_wt=205274
     CDS             1..1814
                     /gene="AFDN"
                     /gene_synonym="AF6; l-afadin; MLL-AF6; MLLT4"
                     /coded_by="XM_054355500.1:570..6014"
                     /db_xref="GeneID:4301"
                     /db_xref="HGNC:HGNC:7137"
                     /db_xref="MIM:159559"
ORIGIN      
        1 msaggrdeer rkladiihhw nanrldlfei sqptedlefh gvmrfyfqdk aagnfatkci
       61 rvsstattqd vietlaekfr pdmrmlsspk yslyevhvsg eerrldidek plvvqlnwnk
      121 ddregrfvlk nendaippka qsngpekqek egviqnfkrt lskkekkekk krekealrqa
      181 sdkddrpfqg edvensrlaa evykdmpets ftrtisnpev vmkrrrqqkl ekrmqefrss
      241 dgrpdsggtl riyadslkpn ipyktillst tdpadfavae alekygleke npkdyciarv
      301 mlppgaqhsd ekgakeiild ddecplqifr ewpsdkgilv fqlkrrppdh ipkktkkhle
      361 gktpkgkera dgsgygstlp peklpylvel spdgsdsrdk pklyrlqlsv tevgtekldd
      421 nsiqlfgpgi qphhcdltnm dgvvtvtprs mdaetyvegq risettmlqs gmkvqfgash
      481 vfkfvdpsqd halakrsvdg glmvkgprhk pgivqettfd lggdihsgta lptsksttrl
      541 dsdrvssass taergmvkpm irveqqpdyr rqesrtqdas gpelilpasi efressedsf
      601 lsaiinytns stvhfklspt yvlymacryv lsnqyrpdis pterthkvia vvnkmvsmme
      661 gviqevdqvd qkqkniagal afwmanasel lnfikqdrdl sritldaqdv lahlvqmafk
      721 ylvhclqsel nnympafldd peenslqrpk iddvlhtltg amsllrrcrv naaltiqlfs
      781 qlfhfinmwl fnrlvtdpds glcshywgai irqqlghiea waekqglela adchlsrivq
      841 attlltmdky apddipnins tcfklnslql qallqnyhca pdepfiptdl ienvvtvaen
      901 tadelarsdg revqleedpd lqlpfllped gyscdvvrni pnglqefldp lcqrgfcrli
      961 phtrspgtwt iyfegadyes hllrentela qplrkepeii tvtlkkqngm glsivaakga
     1021 gqdklgiyvk svvkggaadv dgrlaagdql lsvdgrslvg lsqeraaelm trtssvvtle
     1081 vakqgaiyhg latllnqpsp mmqrisdrrg sgkprpkseg felynnstqn gspespqlpw
     1141 aeysepkklp gddrlmknra dhrsspnvan qppspggksa yasgttakit svstgnlcte
     1201 eqtppprpea ypiptqtytr eyftfpasks qdrmappqnq wpnyeekphm htdsnhssia
     1261 iqrvtrsqee lredkayqle rhrieaamdr ksdsdmwinq sssldsstss qehlnhssks
     1321 vtpastltks gpgrwktpaa ipatpvavsq pirtdlpppp ppppvhyagd fdgmsmdlpl
     1381 ppppsanqig lpsaqvaaae rrkreehqrw yekekarlee ererkrreqe rklgqmrtqs
     1441 lnpapfsplt aqqmkpekps tlqrpqetvi relqpqqqpr tierrdlqyi tvskeelssg
     1501 dslspdpwkr dakeklekqq qmhivdmlsk eiqelqskpd rsaeesdrlr klmlewqfqk
     1561 rlqeskqkde ddeeeedddv dtmlimqrle aerrardeer rrqqqleemr kreaedrarq
     1621 eeerrrqeee rtkrdaeekr rqeegyysrl eaerrrqhde aarrllepea pglcrpplpr
     1681 dyeppspspa pgapppppqr nasylktqvl spdslftakf vayneeeeee dcslagpnsy
     1741 pgstgaavga hdacrdakek rsksqdadsp gssgapenlt fkerqrlfsq gqdvsnkvka
     1801 srkltelene lntk
//
LOCUS       XP_054213930             639 aa            linear   PRI 20-MAR-2023
DEFINITION  growth factor receptor-bound protein 10 isoform X5 [Homo sapiens].
ACCESSION   XP_054213930
VERSION     XP_054213930.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357955.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..639
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..639
                     /product="growth factor receptor-bound protein 10 isoform
                     X5"
                     /calculated_mol_wt=71954
     CDS             1..639
                     /gene="GRB10"
                     /gene_synonym="Grb-10; GRB-IR; IRBP; MEG1; RSS"
                     /coded_by="XM_054357955.1:132..2051"
                     /db_xref="GeneID:2887"
                     /db_xref="HGNC:HGNC:4564"
                     /db_xref="MIM:601523"
ORIGIN      
        1 malagcpdsf lhhpyyqdkv eqtprsqqdp agpglpaqsd rlanhqeddv dlealvndmn
       61 asleslysac smqsdtvpll qngqharsqp rasgpprsiq pqvsprqrvq rsqpvhilav
      121 rrlqeedqqf rtsslpaipn pfpelcgpgs ppvltpgslp psqaaakqnr ksragdsshh
      181 slvlchgtcp lsttaagetr vglvtqkqlf hirdvkvfse dgtskvveil admtardlcq
      241 llvykshcvd dnswtlvehh phlglercle dhelvvqves tmaseskflf rknyakyeff
      301 knpmnffpeq mvtwcqqsng sqtqllqnfl nssscpeiqg flhvkelgkk swkklyvclr
      361 rsglycstkg tskeprhlql ladledsnif sliagrkqyn aptdhglcik pnkvrnetke
      421 lrllcaedeq trtcwmtafr llkygmllyq nyripqqrka llspfstpvr svsenslvam
      481 dfsgqtgrvi enpaeaqsaa leeghawrkr strmnilgsq splhpstlst vihrtqhwfh
      541 grisreeshr iikqqglvdg lfllrdsqsn pkafvltlch hqkiknfqil pceddgqtff
      601 slddgntkfs dliqlvdfyq lnkgvlpckl khhcirval
//
LOCUS       XP_054215535            1533 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor coactivator 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054215535
VERSION     XP_054215535.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359560.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1533
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1533
                     /product="nuclear receptor coactivator 2 isoform X1"
                     /calculated_mol_wt=166063
     CDS             1..1533
                     /gene="NCOA2"
                     /gene_synonym="bHLHe75; GRIP1; KAT13C; NCoA-2; SRC2; TIF2"
                     /coded_by="XM_054359560.1:199..4800"
                     /db_xref="GeneID:10499"
                     /db_xref="HGNC:HGNC:7669"
                     /db_xref="MIM:601993"
ORIGIN      
        1 msgmgentsd psraetrkrk ecpdqlgpsp krntekrnre qenkyieela elifanfndi
       61 dnfnfkpdkc ailketvkqi rqikeqekaa aanidevqks dvsstgqgvi dkdalgpmml
      121 ealdgfffvv nlegnvvfvs envtqylryn qeelmnksvy silhvgdhte fvknllpksi
      181 vnggswsgep prrnshtfnc rmlvkplpds eeeghdnqea hqkyetmqcf avsqpksike
      241 egedlqscli cvarrvpmke rpvlpssesf ttrqdlqgki tsldtstmra amkpgwedlv
      301 rrciqkfhaq hegesvsyak rhhhevlrqg lafsqiyrfs lsdgtlvaaq tksklirsqt
      361 tnepqlvisl hmlhreqnvc vmnpdltgqt mgkplnpiss nspahqalcs gnpgqdmtls
      421 sninfpingp keqmgmpmgr fggsggmnhv sgmqattpqg snyalkmnsp sqsspgmnpg
      481 qptsmlsprh rmspgvagsp rippsqfspa gslhspvgvc sstgnshsyt nsslnalqal
      541 seghgvslgs slaspdlkmg nlqnspvnmn ppplskmgsl dskdcfglyg epsegttgqa
      601 esschpgeqk etndpnlppa vsseradgqs rlhdskgqtk llqllttksd qmepsplass
      661 lsdtnkdstg slpgsgsthg tslkekhkil hrllqdsssp vdlakltaea tgkdlsqess
      721 stapgsevti kqepvspkkk enallrylld kddtkdiglp eitpklerld sktdpasntk
      781 liamktekee msfepgdqpg seldnleeil ddlqnsqlpq lfpdtrpgap agsvdkqaii
      841 ndlmqltaen spvtpvgaqk talrisqstf nnprpgqlgr llpnqnlpld itlqsptgag
      901 pfppirnssp ysvipqpgmm gnqgmignqg nlgnsstgmi gnsasrptmp sgewapqssa
      961 vrvtcaatts amnrpvqggm irnpaasipm rpssqpgqrq tlqsqvmnig pselemnmgg
     1021 pqysqqqapp nqtapwpesi lpidqasfas qnrqpfgssp ddllcphpaa espsdegall
     1081 dqlylalrnf dgleeidral gipelvsqsq avdpeqfssq dsnimleqka pvfpqqyasq
     1141 aqmaqgsysp mqdpnfhtmg qrpsyatlrm qprpglrptg lvqnqpnqlr lqlqhrlqaq
     1201 qnrqplmnqi snvsnvnltl rpgvptqapi naqmlaqrqr eilnqhlrqr qmhqqqqvqq
     1261 rtlmmrgqgl nmtpsmvaps gmpatmsnpr ipqanaqqfp fppnygtglr spppftspfs
     1321 pvspsvgsql lshsslhgsq mnlanqgmig nlggqlgpvr spqvqhstfq alssgisqqp
     1381 dpgftgattp qsplmsprma htqspmmqqs qanpayqaps dingwaqgnm ggnsmfsqqs
     1441 pphfgqqant smysnnmnin vsmatntggm ssmnqmtgqi smtsvtsvpt sglssmgpeq
     1501 vndpalrggn lfpnqlpgmd mikqegdttr kyc
//
LOCUS       NP_001372171             149 aa            linear   PRI 26-MAR-2023
DEFINITION  protein FAM72A isoform 1 [Homo sapiens].
ACCESSION   NP_001372171
VERSION     NP_001372171.1
DBSOURCE    REFSEQ: accession NM_001385242.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 149)
  AUTHORS   Fu Y, Jia X, Yuan J, Yang Y, Zhang T, Yu Q, Zhou J and Wang T.
  TITLE     Fam72a functions as a cell-cycle-controlled gene during
            proliferation and antagonizes apoptosis through reprogramming PP2A
            substrates
  JOURNAL   Dev Cell 58 (5), 398-415 (2023)
   PUBMED   36868233
  REMARK    GeneRIF: Fam72a functions as a cell-cycle-controlled gene during
            proliferation and antagonizes apoptosis through reprogramming PP2A
            substrates.
REFERENCE   2  (residues 1 to 149)
  AUTHORS   Bai Y, Cao K, Zhang P, Ma J and Zhu J.
  TITLE     Prognostic and Immunological Implications of FAM72A in Pan-Cancer
            and Functional Validations
  JOURNAL   Int J Mol Sci 24 (1), 375 (2022)
   PUBMED   36613817
  REMARK    GeneRIF: Prognostic and Immunological Implications of FAM72A in
            Pan-Cancer and Functional Validations.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 149)
  AUTHORS   Feng Y, Li C, Stewart JA, Barbulescu P, Seija Desivo N,
            Alvarez-Quilon A, Pezo RC, Perera MLW, Chan K, Tong AHY,
            Mohamad-Ramshan R, Berru M, Nakib D, Li G, Kardar GA, Carlyle JR,
            Moffat J, Durocher D, Di Noia JM, Bhagwat AS and Martin A.
  TITLE     FAM72A antagonizes UNG2 to promote mutagenic repair during antibody
            maturation
  JOURNAL   Nature 600 (7888), 324-328 (2021)
   PUBMED   34819670
  REMARK    GeneRIF: FAM72A antagonizes UNG2 to promote mutagenic repair during
            antibody maturation.
REFERENCE   4  (residues 1 to 149)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 149)
  AUTHORS   Ho NTT, Kutzner A and Heese K.
  TITLE     A Novel Divergent Gene Transcription Paradigm-the Decisive,
            Brain-Specific, Neural |-Srgap2-Fam72a-| Master Gene Paradigm
  JOURNAL   Mol Neurobiol 56 (8), 5891-5899 (2019)
   PUBMED   30685845
REFERENCE   6  (residues 1 to 149)
  AUTHORS   Heese K.
  TITLE     The protein p17 signaling pathways in cancer
  JOURNAL   Tumour Biol 34 (6), 4081-4087 (2013)
   PUBMED   23900679
  REMARK    GeneRIF: Data indicate that p17 (p17 amyloid-beta peptide-induced
            protein; known as Ugene, LMPIP, or FAM72A/B) drives the cell cycle
            into the G0/G1 phase and enhances survival of proliferating cells.
REFERENCE   7  (residues 1 to 149)
  AUTHORS   Wang LT, Lin CS, Chai CY, Liu KY, Chen JY and Hsu SH.
  TITLE     Functional interaction of Ugene and EBV infection mediates
            tumorigenic effects
  JOURNAL   Oncogene 30 (26), 2921-2932 (2011)
   PUBMED   21317926
  REMARK    GeneRIF: It was found that Ugene, designated herein as LMP1-induced
            protein (LMPIP), was induced, in a time-dependent manner, in
            EBV-infected peripheral blood mononuclear cells and
            LMP1-transfected 293 cells.
REFERENCE   8  (residues 1 to 149)
  AUTHORS   Nehar S, Mishra M and Heese K.
  TITLE     Identification and characterisation of the novel amyloid-beta
            peptide-induced protein p17
  JOURNAL   FEBS Lett 583 (19), 3247-3253 (2009)
   PUBMED   19755123
  REMARK    GeneRIF: this study provides an additional possible mechanism of
            neurotoxicity in Alzheimer's disease, the induction of p17(FAM72B),
            through which Abeta acts to induce apoptosis and exhibit other
            Alzheimer's disease characteristics.
REFERENCE   9  (residues 1 to 149)
  AUTHORS   Guo C, Zhang X, Fink SP, Platzer P, Wilson K, Willson JK, Wang Z
            and Markowitz SD.
  TITLE     Ugene, a newly identified protein that is commonly overexpressed in
            cancer and binds uracil DNA glycosylase
  JOURNAL   Cancer Res 68 (15), 6118-6126 (2008)
   PUBMED   18676834
  REMARK    GeneRIF: Using deletion constructs, the authors find that Ugene
            binds to the first 25 amino acids of the UNG2 NH(2) terminus. They
            suggest that Ugene induction in cancer may contribute to the cancer
            phenotype by interacting with the BER pathway.
REFERENCE   10 (residues 1 to 149)
  AUTHORS   Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L,
            Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard
            A, Glueck D, McGavran L, Berry R, Pollack J and Sikela JM.
  TITLE     Lineage-specific gene duplication and loss in human and great ape
            evolution
  JOURNAL   PLoS Biol 2 (7), E207 (2004)
   PUBMED   15252450
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC244035.3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.29280.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..149
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     Protein         1..149
                     /product="protein FAM72A isoform 1"
                     /note="Protein FAM72A; LMP1-induced protein; latent
                     membrane protein 1-induced protein"
                     /calculated_mol_wt=16488
     Region          6..149
                     /region_name="FAM72"
                     /note="FAM72 protein; pfam14976"
                     /db_xref="CDD:405641"
     CDS             1..149
                     /gene="FAM72A"
                     /gene_synonym="LMPIP; p17; Ugene"
                     /coded_by="NM_001385242.1:1996..2445"
                     /note="isoform 1 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS73016.1"
                     /db_xref="GeneID:729533"
                     /db_xref="HGNC:HGNC:24044"
                     /db_xref="MIM:614710"
ORIGIN      
        1 mstnicsfkd rcvsilcckf ckqvlssrgm kavlladtei dlfstdippt navdftgrcy
       61 ftkickcklk diaclkcgni vgyhvivpcs scllscnngh fwmfhsqavy dinrldstgv
      121 nvllwgnlpe ieestdedvl nisaeecir
//
LOCUS       NP_001242991             105 aa            linear   PRI 24-DEC-2022
DEFINITION  thiamine-triphosphatase isoform 2 [Homo sapiens].
ACCESSION   NP_001242991
VERSION     NP_001242991.1
DBSOURCE    REFSEQ: accession NM_001256062.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 105)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 105)
  AUTHORS   Lakaye B, Makarchikov AF, Wins P, Margineanu I, Roland S, Lins L,
            Aichour R, Lebeau L, El Moualij B, Zorzi W, Coumans B, Grisar T and
            Bettendorff L.
  TITLE     Human recombinant thiamine triphosphatase: purification, secondary
            structure and catalytic properties
  JOURNAL   Int J Biochem Cell Biol 36 (7), 1348-1364 (2004)
   PUBMED   15109578
  REMARK    GeneRIF: The untagged recombinant human ThTPase (hThTPase) was
            expressed in E. coli and purified to homogeneity.
REFERENCE   3  (residues 1 to 105)
  AUTHORS   Makarchikov AF, Lakaye B, Gulyai IE, Czerniecki J, Coumans B, Wins
            P, Grisar T and Bettendorff L.
  TITLE     Thiamine triphosphate and thiamine triphosphatase activities: from
            bacteria to mammals
  JOURNAL   Cell Mol Life Sci 60 (7), 1477-1488 (2003)
   PUBMED   12943234
REFERENCE   4  (residues 1 to 105)
  AUTHORS   Lakaye B, Makarchikov AF, Antunes AF, Zorzi W, Coumans B, De Pauw
            E, Wins P, Grisar T and Bettendorff L.
  TITLE     Molecular characterization of a specific thiamine triphosphatase
            widely expressed in mammalian tissues
  JOURNAL   J Biol Chem 277 (16), 13771-13777 (2002)
   PUBMED   11827967
REFERENCE   5  (residues 1 to 105)
  AUTHORS   Haas RH.
  TITLE     Thiamin and the brain
  JOURNAL   Annu Rev Nutr 8, 483-515 (1988)
   PUBMED   3060175
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL135999.4, BX378775.2 and
            BM673249.1.
            
            Summary: This gene encodes an enzyme which catalyzes the
            biosynthesis of thiamine disphophate (vitamin B1) by hydrolysis of
            thiamine triphosphate. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (4) uses an alternate splice site
            that results in a frameshift in the 3' coding region, compared to
            variant 1. The encoded isoform (2) has a distinct and shorter
            C-terminus, compared to isoform 1. Both variants 4 and 5 encode
            isoform 2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX378775.2, BX378774.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..105
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     Protein         1..105
                     /product="thiamine-triphosphatase isoform 2"
                     /EC_number="3.6.1.28"
                     /calculated_mol_wt=11907
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9BU02.3)"
     Region          6..>95
                     /region_name="CYTH-like_Pase"
                     /note="CYTH-like (also known as triphosphate tunnel
                     metalloenzyme (TTM)-like) Phosphatases; cl11964"
                     /db_xref="CDD:448368"
     Site            order(7,9,11)
                     /site_type="active"
                     /note="signature motif [active]"
                     /db_xref="CDD:143620"
     CDS             1..105
                     /gene="THTPA"
                     /gene_synonym="THTP; THTPASE"
                     /coded_by="NM_001256062.2:777..1094"
                     /note="isoform 2 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS58307.1"
                     /db_xref="GeneID:79178"
                     /db_xref="HGNC:HGNC:18987"
                     /db_xref="MIM:611612"
ORIGIN      
        1 maqgliever kflpgpgtee rlqelggtle yrvtfrdtyy dtpelslmqa dhwlrrreds
       61 gwelkcpgaa gvlgphteyk eltaeptiva qlckvclhrr qhqps
//
LOCUS       NP_000974                128 aa            linear   PRI 25-DEC-2022
DEFINITION  60S ribosomal protein L22 [Homo sapiens].
ACCESSION   NP_000974
VERSION     NP_000974.1
DBSOURCE    REFSEQ: accession NM_000983.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 128)
  AUTHORS   Cheng J, Sha Z, Zhang R, Ge J, Chen P, Kuang X, Chang J, Ren K, Luo
            X, Chen S and Gou X.
  TITLE     L22 ribosomal protein is involved in dynamin-related protein
            1-mediated gastric carcinoma progression
  JOURNAL   Bioengineered 13 (3), 6650-6664 (2022)
   PUBMED   35230214
  REMARK    GeneRIF: L22 ribosomal protein is involved in dynamin-related
            protein 1-mediated gastric carcinoma progression.
REFERENCE   2  (residues 1 to 128)
  AUTHORS   Zeng J, Zhang Y, Zhang H, Zhang Y, Gao L, Tong X, Xie Y, Hu Q, Chen
            C, Ding S and Lu J.
  TITLE     RPL22 Overexpression Promotes Psoriasis-Like Lesion by Inducing
            Keratinocytes Abnormal Biological Behavior
  JOURNAL   Front Immunol 12, 699900 (2021)
   PUBMED   34220863
  REMARK    GeneRIF: RPL22 Overexpression Promotes Psoriasis-Like Lesion by
            Inducing Keratinocytes Abnormal Biological Behavior.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 128)
  AUTHORS   Das AS, Basu A, Kumar R, Borah PK, Bakshi S, Sharma M, Duary RK,
            Ray PS and Mukhopadhyay R.
  TITLE     Post-transcriptional regulation of C-C motif chemokine ligand 2
            expression by ribosomal protein L22 during LPS-mediated
            inflammation
  JOURNAL   FEBS J 287 (17), 3794-3813 (2020)
   PUBMED   32383535
  REMARK    GeneRIF: Post-transcriptional regulation of C-C motif chemokine
            ligand 2 expression by ribosomal protein L22 during LPS-mediated
            inflammation.
REFERENCE   4  (residues 1 to 128)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 128)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before
            and after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 128)
  AUTHORS   Shu-Nu C, Lin CH and Lin A.
  TITLE     An acidic amino acid cluster regulates the nucleolar localization
            and ribosome assembly of human ribosomal protein L22
  JOURNAL   FEBS Lett 484 (1), 22-28 (2000)
   PUBMED   11056215
REFERENCE   7  (residues 1 to 128)
  AUTHORS   Le S, Sternglanz R and Greider CW.
  TITLE     Identification of two RNA-binding proteins associated with human
            telomerase RNA
  JOURNAL   Mol Biol Cell 11 (3), 999-1010 (2000)
   PUBMED   10712515
REFERENCE   8  (residues 1 to 128)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (residues 1 to 128)
  AUTHORS   Fujita Y, Okamoto T, Noshiro M, McKeehan WL, Crabb JW, Whitney RG,
            Kato Y, Sato JD and Takada K.
  TITLE     A novel heparin-binding protein, HBp15, is identified as mammalian
            ribosomal protein L22
  JOURNAL   Biochem Biophys Res Commun 199 (2), 706-713 (1994)
   PUBMED   8135813
REFERENCE   10 (residues 1 to 128)
  AUTHORS   Toczyski DP and Steitz JA.
  TITLE     EAP, a highly conserved cellular protein associated with
            Epstein-Barr virus small RNAs (EBERs)
  JOURNAL   EMBO J 10 (2), 459-466 (1991)
   PUBMED   1846807
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from CA336134.1, AK097075.1 and AF113701.1.
            
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a cytoplasmic
            ribosomal protein that is a component of the 60S subunit. The
            protein belongs to the L22E family of ribosomal proteins. Its
            initiating methionine residue is post-translationally removed. The
            protein can bind specifically to Epstein-Barr virus-encoded RNAs
            (EBERs) 1 and 2. The mouse protein has been shown to be capable of
            binding to heparin. Transcript variants utilizing alternative polyA
            signals exist. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. It was previously thought that this gene mapped
            to 3q26 and that it was fused to the acute myeloid leukemia 1
            (AML1) gene located at 21q22 in some therapy-related
            myelodysplastic syndrome patients with 3;21 translocations;
            however, these fusions actually involve a ribosomal protein L22
            pseudogene located at 3q26, and this gene actually maps to
            1p36.3-p36.2. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.436838.1,
                                           SRR3476690.1039763.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000234875.9/ ENSP00000346088.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..128
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.31"
     Protein         1..128
                     /product="60S ribosomal protein L22"
                     /EC_number="2.1.1.100"
                     /note="Epstein-Barr-encoded RNA-associated protein;
                     Epstein-Barr virus small RNA-associated protein;
                     EBER-associated protein; heparin-binding protein 15;
                     heparin-binding protein HBp15; large ribosomal subunit
                     protein eL22"
                     /calculated_mol_wt=14656
     Region          21..119
                     /region_name="Ribosomal_L22e"
                     /note="Ribosomal L22e protein family; pfam01776"
                     /db_xref="CDD:426423"
     Site            62
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P67984; propagated from
                     UniProtKB/Swiss-Prot (P35268.2)"
     Site            66
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P35268.2)"
     CDS             1..128
                     /gene="RPL22"
                     /gene_synonym="EAP; HBP15; HBP15/L22; L22"
                     /coded_by="NM_000983.4:23..409"
                     /db_xref="CCDS:CCDS58.1"
                     /db_xref="GeneID:6146"
                     /db_xref="HGNC:HGNC:10315"
                     /db_xref="MIM:180474"
ORIGIN      
        1 mapvkklvvk ggkkkkqvlk ftldcthpve dgimdaanfe qflqerikvn gkagnlgggv
       61 vtierskski tvtsevpfsk rylkyltkky lkknnlrdwl rvvanskesy elryfqinqd
      121 eeeeeded
//
LOCUS       NP_055464                953 aa            linear   PRI 25-DEC-2022
DEFINITION  scaffold attachment factor B2 [Homo sapiens].
ACCESSION   NP_055464 XP_375559
VERSION     NP_055464.1
DBSOURCE    REFSEQ: accession NM_014649.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 953)
  AUTHORS   Hutter K, Lohmuller M, Jukic A, Eichin F, Avci S, Labi V, Szabo TG,
            Hoser SM, Huttenhofer A, Villunger A and Herzog S.
  TITLE     SAFB2 Enables the Processing of Suboptimal Stem-Loop Structures in
            Clustered Primary miRNA Transcripts
  JOURNAL   Mol Cell 78 (5), 876-889 (2020)
   PUBMED   32502422
  REMARK    GeneRIF: SAFB2 Enables the Processing of Suboptimal Stem-Loop
            Structures in Clustered Primary miRNA Transcripts.
REFERENCE   2  (residues 1 to 953)
  AUTHORS   Hong E, Best A, Gautrey H, Chin J, Razdan A, Curk T, Elliott DJ and
            Tyson-Capper AJ.
  TITLE     Unravelling the RNA-Binding Properties of SAFB Proteins in Breast
            Cancer Cells
  JOURNAL   Biomed Res Int 2015, 395816 (2015)
   PUBMED   26273616
  REMARK    GeneRIF: Single depletion of either SAFB1 or SAFB2 leads to an
            increase in expression of the other SAFB protein.
REFERENCE   3  (residues 1 to 953)
  AUTHORS   Hashimoto T, Matsuda K and Kawata M.
  TITLE     Scaffold attachment factor B (SAFB)1 and SAFB2 cooperatively
            inhibit the intranuclear mobility and function of ERalpha
  JOURNAL   J Cell Biochem 113 (9), 3039-3050 (2012)
   PUBMED   22566185
  REMARK    GeneRIF: Results indicate that SAFB1 and SAFB2 are crucial
            repressors for ERalpha dynamics in association with the nuclear
            matrix and that their synergistic regulation of ERalpha mobility is
            sufficient for inhibiting ERalpha function.
REFERENCE   4  (residues 1 to 953)
  AUTHORS   Hammerich-Hille S, Bardout VJ, Hilsenbeck SG, Osborne CK and
            Oesterreich S.
  TITLE     Low SAFB levels are associated with worse outcome in breast cancer
            patients
  JOURNAL   Breast Cancer Res Treat 121 (2), 503-509 (2010)
   PUBMED   19137425
  REMARK    GeneRIF: This study shows that low SAFB protein levels predict poor
            prognosis of breast cancer patients, suggesting critical functions
            of SAFB1 and SAFB2 in breast cancer cells.
REFERENCE   5  (residues 1 to 953)
  AUTHORS   Hammerich-Hille S, Kaipparettu BA, Tsimelzon A, Creighton CJ, Jiang
            S, Polo JM, Melnick A, Meyer R and Oesterreich S.
  TITLE     SAFB1 mediates repression of immune regulators and apoptotic genes
            in breast cancer cells
  JOURNAL   J Biol Chem 285 (6), 3608-3616 (2010)
   PUBMED   19901029
  REMARK    GeneRIF: Study confirms the primary role of SAFB1/SAFB2 as
            corepressors and also uncovers a previously unknown role for SAFB1
            in the regulation of immune genes and in estrogen-mediated
            repression of genes.
REFERENCE   6  (residues 1 to 953)
  AUTHORS   Tsianou D, Nikolakaki E, Tzitzira A, Bonanou S, Giannakouros T and
            Georgatsou E.
  TITLE     The enzymatic activity of SR protein kinases 1 and 1a is negatively
            affected by interaction with scaffold attachment factors B1 and 2
  JOURNAL   FEBS J 276 (18), 5212-5227 (2009)
   PUBMED   19674106
  REMARK    GeneRIF: The enzymatic activity of SR protein kinases 1 and 1a is
            negatively affected by interaction with scaffold attachment factors
            B1 and 2.
REFERENCE   7  (residues 1 to 953)
  AUTHORS   Bergman A, Abel F, Behboudi A, Yhr M, Mattsson J, Svensson JH,
            Karlsson P and Nordling M.
  TITLE     No germline mutations in supposed tumour suppressor genes SAFB1 and
            SAFB2 in familial breast cancer with linkage to 19p
  JOURNAL   BMC Med Genet 9, 108 (2008)
   PUBMED   19077293
  REMARK    GeneRIF: SAFB2 is not likely to be causative of the hereditary
            breast cancer syndrome in west Swedish breast cancer families
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 953)
  AUTHORS   Oesterreich S.
  TITLE     Scaffold attachment factors SAFB1 and SAFB2: Innocent bystanders or
            critical players in breast tumorigenesis?
  JOURNAL   J Cell Biochem 90 (4), 653-661 (2003)
   PUBMED   14587024
  REMARK    GeneRIF: REVIEW: possibility that SAFB1 and SAFB2 are novel breast
            tumor suppressor genes, and how they might function in this role,
            are discussed
            Review article
REFERENCE   9  (residues 1 to 953)
  AUTHORS   Townson SM, Dobrzycka KM, Lee AV, Air M, Deng W, Kang K, Jiang S,
            Kioka N, Michaelis K and Oesterreich S.
  TITLE     SAFB2, a new scaffold attachment factor homolog and estrogen
            receptor corepressor
  JOURNAL   J Biol Chem 278 (22), 20059-20068 (2003)
   PUBMED   12660241
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB475007.1, D50928.1 and
            AW136754.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 30, 2004 this sequence version replaced XP_375559.1.
            
            Summary: The protein encoded by this gene, along with its paralog
            (scaffold attachment factor B1), is a repressor of estrogen
            receptor alpha. The encoded protein binds scaffold/matrix
            attachment region (S/MAR) DNA and is involved in cell cycle
            regulation, apoptosis, differentiation, the stress response, and
            regulation of immune genes. [provided by RefSeq, May 2016].
            
            ##Evidence-Data-START##
            Transcript exon combination :: D50928.1, SRR1660807.108917.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252542.9/ ENSP00000252542.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..953
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..953
                     /product="scaffold attachment factor B2"
                     /calculated_mol_wt=107343
     Region          1..29
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14151.1)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (Q14151.1)"
     Region          30..64
                     /region_name="SAP"
                     /note="Putative DNA-binding (bihelical) motif predicted to
                     be involved in chromosomal organisation; smart00513"
                     /db_xref="CDD:128789"
     Region          31..>153
                     /region_name="PLN03124"
                     /note="poly [ADP-ribose] polymerase; Provisional"
                     /db_xref="CDD:215591"
     Site            54
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14151.1)"
     Region          91..114
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14151.1)"
     Site            109
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19367720,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q14151.1)"
     Site            158
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q14151.1)"
     Site            201
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q14151.1)"
     Site            207
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q14151.1)"
     Region          219..404
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14151.1)"
     Region          336..>512
                     /region_name="RRM"
                     /note="RNA recognition motif (RRM) domain [Translation,
                     ribosomal structure and biogenesis]; COG0724"
                     /db_xref="CDD:223796"
     Region          406..481
                     /region_name="RRM_SAFB1_SAFB2"
                     /note="RNA recognition motif (RRM) found in scaffold
                     attachment factor B1 (SAFB1), scaffold attachment factor
                     B2 (SAFB2), and similar proteins; cd12679"
                     /db_xref="CDD:410080"
     Site            507
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14151.1)"
     Site            513
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q14151.1)"
     Region          525..665
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14151.1)"
     Region          600..953
                     /region_name="Interaction with SAFB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14151.1)"
     Site            616
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q14151.1)"
     Region          684..953
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14151.1)"
     Region          713..730
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14151.1)"
     Site            787
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14151.1)"
     Site            832
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14151.1)"
     Site            886
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14151.1)"
     Site            897
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q14151.1)"
     Site            903
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q14151.1)"
     CDS             1..953
                     /gene="SAFB2"
                     /coded_by="NM_014649.3:62..2923"
                     /db_xref="CCDS:CCDS32879.1"
                     /db_xref="GeneID:9667"
                     /db_xref="HGNC:HGNC:21605"
                     /db_xref="MIM:608066"
ORIGIN      
        1 maetlpgsgd sgpgtaslgp gvaetgtrrl selrvidlra elkkrnldtg gnksvlmerl
       61 kkavkeegqd pdeigielea tskksakrcv kglkmeeegt edngleddsr dgqedmeasl
      121 enlqnmgmmd msvldeteva nssapdfged gtdglldsfc dskeyvaaql rqlpaqppeh
      181 avdgegfknt letsslnfkv tpdieeslle penekildil getcksepvk eesseleqpf
      241 aqdtssvgpd rklaeeedlf dsahpeegdl dlasestaha qsskadslla vvkrepaeqp
      301 gdgertdcep vglepaveqs saaselaeas seelaeapte apspeardsk edgrkfdfda
      361 cnevppapke sstsegadqk mssfkeekdi kpiikdekgr vgsgsgrnlw vsglssttra
      421 tdlknlfsky gkvvgakvvt narspgarcy gfvtmstsde atkcishlhr telhgrmisv
      481 ekaknepagk klsdrkecev kkeklssvdr hhsveikiek tvikkeekie kkeekkpedi
      541 kkeekdqdel kpgptnrsrv tksgsrgmer tvvmdkskge pvisvkttsr skerssksqd
      601 rkseskekrd ilsfdkikeq rererqrqre reireterrr ereqrereqr leafherkek
      661 arlqrerlql ecqrqrlere rmererlere rmrvererrk eqerihrere elrrqqeqlr
      721 yeqerrpgrr pydldrrdda ywpegkrvam edryradfpr pdhrfhdfdh rdrgqyqdha
      781 idrregsrpm mgdhrdgqhy gddrhghggp perhgrdsrd gwggygsdkr lsegrglppp
      841 prggrdwgeh nqrleehqar awqgamdaga asreharwqg gerglsgpsg pghmasrggv
      901 agrggfaqgg hsqghvvpgg glegggvasq drgsrvphph phpppyphft rry
//
LOCUS       NP_065751                514 aa            linear   PRI 25-DEC-2022
DEFINITION  protein phosphatase 1H [Homo sapiens].
ACCESSION   NP_065751 XP_350881 XP_944395
VERSION     NP_065751.1
DBSOURCE    REFSEQ: accession NM_020700.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 514)
  AUTHORS   Xu H, Zhang H, Tan L, Yang Y, Wang H, Zhao Q and Lu J.
  TITLE     FAM87A as a Competing Endogenous RNA of miR-424-5p Suppresses
            Glioma Progression by Regulating PPM1H
  JOURNAL   Comput Math Methods Med 2021, 7952922 (2021)
   PUBMED   34712356
  REMARK    GeneRIF: FAM87A as a Competing Endogenous RNA of miR-424-5p
            Suppresses Glioma Progression by Regulating PPM1H.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 514)
  AUTHORS   Zhang WQ, Gao JN, Chen XL and Yang XF.
  TITLE     PPM1H is an independent prognostic biomarker of non-small cell lung
            cancer
  JOURNAL   Neoplasma 68 (5), 917-923 (2021)
   PUBMED   33847131
  REMARK    GeneRIF: PPM1H is an independent prognostic biomarker of non-small
            cell lung cancer.
REFERENCE   3  (residues 1 to 514)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 514)
  AUTHORS   Berndsen K, Lis P, Yeshaw WM, Wawro PS, Nirujogi RS, Wightman M,
            Macartney T, Dorward M, Knebel A, Tonelli F, Pfeffer SR and Alessi
            DR.
  TITLE     PPM1H phosphatase counteracts LRRK2 signaling by selectively
            dephosphorylating Rab proteins
  JOURNAL   Elife 8, e50416 (2019)
   PUBMED   31663853
  REMARK    GeneRIF: PPM1H acts as a key modulator of LRRK2 signaling by
            controlling dephosphorylation of Rab proteins
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 514)
  AUTHORS   Xu X, Zhu L, Yang Y, Pan Y, Feng Z, Li Y, Chang W, Sui J and Cao F.
  TITLE     Low tumour PPM1H indicates poor prognosis in colorectal cancer via
            activation of cancer-associated fibroblasts
  JOURNAL   Br J Cancer 120 (10), 987-995 (2019)
   PUBMED   30988394
  REMARK    GeneRIF: Lack of tumour PPM1H expression identifies a patient
            subgroup with a high relapse risk, and CRC cells with low
            expression of PPM1H activate cancer-association fibroblasts (CAFs)
            and inversely get promoted by CAFs.
REFERENCE   6  (residues 1 to 514)
  AUTHORS   Croteau-Chonka DC, Marvelle AF, Lange EM, Lee NR, Adair LS, Lange
            LA and Mohlke KL.
  TITLE     Genome-wide association study of anthropometric traits and evidence
            of interactions with age and study year in Filipino women
  JOURNAL   Obesity (Silver Spring) 19 (5), 1019-1027 (2011)
   PUBMED   20966902
REFERENCE   7  (residues 1 to 514)
  AUTHORS   Neale BM, Medland S, Ripke S, Anney RJ, Asherson P, Buitelaar J,
            Franke B, Gill M, Kent L, Holmans P, Middleton F, Thapar A, Lesch
            KP, Faraone SV, Daly M, Nguyen TT, Schafer H, Steinhausen HC, Reif
            A, Renner TJ, Romanos M, Romanos J, Warnke A, Walitza S, Freitag C,
            Meyer J, Palmason H, Rothenberger A, Hawi Z, Sergeant J, Roeyers H,
            Mick E and Biederman J.
  CONSRTM   IMAGE II Consortium Group
  TITLE     Case-control genome-wide association study of
            attention-deficit/hyperactivity disorder
  JOURNAL   J Am Acad Child Adolesc Psychiatry 49 (9), 906-920 (2010)
   PUBMED   20732627
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (residues 1 to 514)
  AUTHORS   Kariuki SN, Franek BS, Kumar AA, Arrington J, Mikolaitis RA, Utset
            TO, Jolly M, Crow MK, Skol AD and Niewold TB.
  TITLE     Trait-stratified genome-wide association study identifies novel and
            diverse genetic associations with serologic and cytokine phenotypes
            in systemic lupus erythematosus
  JOURNAL   Arthritis Res Ther 12 (4), R151 (2010)
   PUBMED   20659327
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   9  (residues 1 to 514)
  AUTHORS   Sugiura T, Noguchi Y, Sakurai K and Hattori C.
  TITLE     Protein phosphatase 1H, overexpressed in colon adenocarcinoma, is
            associated with CSE1L
  JOURNAL   Cancer Biol Ther 7 (2), 285-292 (2008)
   PUBMED   18059182
  REMARK    GeneRIF: PPM1H, overexpressed in colon adenocarcinoma, is
            associated with CSE1L protein.
REFERENCE   10 (residues 1 to 514)
  AUTHORS   Labes M, Roder J and Roach A.
  TITLE     A novel phosphatase regulating neurite extension on CNS inhibitors
  JOURNAL   Mol Cell Neurosci 12 (1-2), 29-47 (1998)
   PUBMED   9770338
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC078814.23, DA396561.1, AB032983.1 and AC048341.22.
            On or before Jun 29, 2007 this sequence version replaced
            XP_350881.5, XP_944395.2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB084258.1, SRR1660805.19399.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000228705.7/ ENSP00000228705.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..514
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.1-q14.2"
     Protein         1..514
                     /product="protein phosphatase 1H"
                     /EC_number="3.1.3.16"
                     /note="protein phosphatase 1H (PP2C domain containing);
                     ras homolog gene family, member C like 1; neurite
                     extension-related protein phosphatase related to PP2C"
                     /calculated_mol_wt=56317
     Site            7
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UYC0; propagated from
                     UniProtKB/Swiss-Prot (Q9ULR3.2)"
     Region          109..135
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULR3.2)"
     Site            113
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q5M821; propagated from
                     UniProtKB/Swiss-Prot (Q9ULR3.2)"
     Site            124
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9ULR3.2)"
     Region          143..507
                     /region_name="PP2Cc"
                     /note="Serine/threonine phosphatases, family 2C, catalytic
                     domain; The protein architecture and deduced catalytic
                     mechanism of PP2C phosphatases are similar to the PP1,
                     PP2A, PP2B family of protein Ser/Thr phosphatases, with
                     which PP2C shares no sequence...; cd00143"
                     /db_xref="CDD:238083"
     Site            211
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9ULR3.2)"
     Site            213
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q3UYC0; propagated from
                     UniProtKB/Swiss-Prot (Q9ULR3.2)"
     Site            221
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9ULR3.2)"
     Site            224
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9ULR3.2)"
     Site            422
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9ULR3.2)"
     CDS             1..514
                     /gene="PPM1H"
                     /gene_synonym="ARHCL1; NERPP-2C; URCC2"
                     /coded_by="NM_020700.2:415..1959"
                     /db_xref="CCDS:CCDS44934.1"
                     /db_xref="GeneID:57460"
                     /db_xref="HGNC:HGNC:18583"
                     /db_xref="MIM:616016"
ORIGIN      
        1 mltrvksava nfmggimags sgsehgggsc ggsdlplrfp ygrpeflgls qdevecsadh
       61 iarpililke trrlpwatgy aevinagkst hnedqascev ltvkkkagav tstpnrnssk
      121 rrsslpngeg lqlkensese gvschywslf dghagsgaav vasrllqhhi teqlqdivdi
      181 lknsavlppt clgeepentp ansrtltraa slrggvgapg spstpptrff tekkiphecl
      241 vigalesafk emdlqierer ssynisggct alivicllgk lyvanagdsr aiiirngeii
      301 pmsseftpet erqrlqylaf mqphllgnef thlefprrvq rkelgkkmly rdfnmtgway
      361 ktiededlkf pliygegkka rvmatigvtr glgdhdlkvh dsniyikpfl ssapevriyd
      421 lskydhgsdd vlilatdglw dvlsneevae aitqflpncd pddphrytla aqdlvmrarg
      481 vlkdrgwris ndrlgsgddi svyviplihg nkls
//
LOCUS       NP_001127891             574 aa            linear   PRI 28-DEC-2022
DEFINITION  cell division cycle 7-related protein kinase [Homo sapiens].
ACCESSION   NP_001127891
VERSION     NP_001127891.1
DBSOURCE    REFSEQ: accession NM_001134419.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 574)
  AUTHORS   Guo Y, Wang J, Benedict B, Yang C, van Gemert F, Ma X, Gao D, Wang
            H, Zhang S, Lieftink C, Beijersbergen RL, Te Riele H, Qiao X, Gao
            Q, Sun C, Qin W, Bernards R and Wang C.
  TITLE     Targeting CDC7 potentiates ATR-CHK1 signaling inhibition through
            induction of DNA replication stress in liver cancer
  JOURNAL   Genome Med 13 (1), 166 (2021)
   PUBMED   34663432
  REMARK    GeneRIF: Targeting CDC7 potentiates ATR-CHK1 signaling inhibition
            through induction of DNA replication stress in liver cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 574)
  AUTHORS   Liang XL, Wang YL and Wang PR.
  TITLE     MiR-200a with CDC7 as a direct target declines cell viability and
            promotes cell apoptosis in Wilm's tumor via Wnt/beta-catenin
            signaling pathway
  JOURNAL   Mol Cell Biochem 476 (6), 2409-2420 (2021)
   PUBMED   33599894
  REMARK    GeneRIF: MiR-200a with CDC7 as a direct target declines cell
            viability and promotes cell apoptosis in Wilm's tumor via
            Wnt/beta-catenin signaling pathway.
REFERENCE   3  (residues 1 to 574)
  AUTHORS   Wang Q and Zheng W.
  TITLE     Upregulation of CDC7 Associated with Cervical Cancer Incidence and
            Development
  JOURNAL   Biomed Res Int 2021, 6663367 (2021)
   PUBMED   33763482
  REMARK    GeneRIF: Upregulation of CDC7 Associated with Cervical Cancer
            Incidence and Development.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 574)
  AUTHORS   Rainey MD, Bennett D, O'Dea R, Zanchetta ME, Voisin M, Seoighe C
            and Santocanale C.
  TITLE     ATR Restrains DNA Synthesis and Mitotic Catastrophe in Response to
            CDC7 Inhibition
  JOURNAL   Cell Rep 32 (9), 108096 (2020)
   PUBMED   32877678
  REMARK    GeneRIF: ATR Restrains DNA Synthesis and Mitotic Catastrophe in
            Response to CDC7 Inhibition.
REFERENCE   5  (residues 1 to 574)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (residues 1 to 574)
  AUTHORS   Jiang W, McDonald D, Hope TJ and Hunter T.
  TITLE     Mammalian Cdc7-Dbf4 protein kinase complex is essential for
            initiation of DNA replication
  JOURNAL   EMBO J 18 (20), 5703-5713 (1999)
   PUBMED   10523313
REFERENCE   7  (residues 1 to 574)
  AUTHORS   Kumagai H, Sato N, Yamada M, Mahony D, Seghezzi W, Lees E, Arai K
            and Masai H.
  TITLE     A novel growth- and cell cycle-regulated protein, ASK, activates
            human Cdc7-related kinase and is essential for G1/S transition in
            mammalian cells
  JOURNAL   Mol Cell Biol 19 (7), 5083-5095 (1999)
   PUBMED   10373557
REFERENCE   8  (residues 1 to 574)
  AUTHORS   Hess GF, Drong RF, Weiland KL, Slightom JL, Sclafani RA and
            Hollingsworth RE.
  TITLE     A human homolog of the yeast CDC7 gene is overexpressed in some
            tumors and transformed cell lines
  JOURNAL   Gene 211 (1), 133-140 (1998)
   PUBMED   9573348
REFERENCE   9  (residues 1 to 574)
  AUTHORS   Jiang W and Hunter T.
  TITLE     Identification and characterization of a human protein kinase
            related to budding yeast Cdc7p
  JOURNAL   Proc Natl Acad Sci U S A 94 (26), 14320-14325 (1997)
   PUBMED   9405610
REFERENCE   10 (residues 1 to 574)
  AUTHORS   Sato N, Arai K and Masai H.
  TITLE     Human and Xenopus cDNAs encoding budding yeast Cdc7-related
            kinases: in vitro phosphorylation of MCM subunits by a putative
            human homologue of Cdc7
  JOURNAL   EMBO J 16 (14), 4340-4351 (1997)
   PUBMED   9250678
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA791490.1, BC110526.1,
            BC111044.1, AI672674.1 and N62245.1.
            
            Summary: This gene encodes a cell division cycle protein with
            kinase activity that is critical for the G1/S transition. The yeast
            homolog is also essential for initiation of DNA replication as cell
            division occurs. Overexpression of this gene product may be
            associated with neoplastic transformation for some tumors. Multiple
            alternatively spliced transcript variants that encode the same
            protein have been detected. [provided by RefSeq, Aug 2008].
            
            Transcript Variant: This variant (2) uses a different splice site
            in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 all
            encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC110526.1, SRR14038191.868430.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..574
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.2-p22.1"
     Protein         1..574
                     /product="cell division cycle 7-related protein kinase"
                     /EC_number="2.7.11.1"
                     /note="CDC7 (cell division cycle 7, S. cerevisiae,
                     homolog)-like 1; epididymis secretory sperm binding
                     protein; cell division cycle 7-like protein 1;
                     CDC7-related kinase; cell division cycle 7 homolog"
                     /calculated_mol_wt=63757
     Site            27
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00311.1)"
     Region          56..438
                     /region_name="STKc_Cdc7"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Cell Division Cycle 7 kinase; cd14019"
                     /db_xref="CDD:270921"
     Site            order(64..68,72,88,90,100,118,134..137,141,143..144,177,
                     179,181..182,184,196,199,371,373..376,378,417)
                     /site_type="active"
                     /db_xref="CDD:270921"
     Site            order(64..67,70,72,88,90,118,134..137,139,181..182,184,
                     196)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270921"
     Site            order(100,143,177,179,199,371,373..376,378,417)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270921"
     Site            order(195..205,366..378)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270921"
     Region          <293..>419
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          <358..571
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            503
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00311.1)"
     CDS             1..574
                     /gene="CDC7"
                     /gene_synonym="CDC7L1; HsCDC7; Hsk1; huCDC7"
                     /coded_by="NM_001134419.2:128..1852"
                     /db_xref="CCDS:CCDS734.1"
                     /db_xref="GeneID:8317"
                     /db_xref="HGNC:HGNC:1745"
                     /db_xref="MIM:603311"
ORIGIN      
        1 measlgiqmd epmafspqrd rfqaegslkk neqnfklagv kkdieklyea vpqlsnvfki
       61 edkigegtfs svylataqlq vgpeekialk hliptshpir iaaelqcltv aggqdnvmgv
      121 kycfrkndhv viampylehe sfldilnsls fqevreymln lfkalkrihq fgivhrdvkp
      181 snflynrrlk kyalvdfgla qgthdtkiel lkfvqseaqq ercsqnkshi itgnkiplsg
      241 pvpkeldqqs ttkasvkrpy tnaqiqikqg kdgkegsvgl svqrsvfger nfnihssish
      301 espavklmkq sktvdvlsrk latkkkaist kvmnsavmrk tasscpaslt cdcyatdkvc
      361 siclsrrqqv apragtpgfr apevltkcpn qttaidmwsa gviflsllsg rypfykasdd
      421 ltalaqimti rgsretiqaa ktfgksilcs kevpaqdlrk lcerlrgmds stpkltsdiq
      481 ghashqpais ektdhkascl vqtppgqysg nsfkkgdsns cehcfdeynt nlegwnevpd
      541 eaydlldkll dlnpasrita eeallhpffk dmsl
//
LOCUS       NP_001333096             761 aa            linear   PRI 29-DEC-2022
DEFINITION  zinc finger protein 287 isoform a [Homo sapiens].
ACCESSION   NP_001333096
VERSION     NP_001333096.1
DBSOURCE    REFSEQ: accession NM_001346167.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 761)
  AUTHORS   Yang R, Chen L, Newman S, Gandhi K, Doho G, Moreno CS, Vertino PM,
            Bernal-Mizarchi L, Lonial S, Boise LH, Rossi M, Kowalski J and Qin
            ZS.
  TITLE     Integrated analysis of whole-genome paired-end and mate-pair
            sequencing data for identifying genomic structural variations in
            multiple myeloma
  JOURNAL   Cancer Inform 13 (Suppl 2), 49-53 (2014)
   PUBMED   25288879
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 761)
  AUTHORS   Dang DT, Pevsner J and Yang VW.
  TITLE     The biology of the mammalian Kruppel-like family of transcription
            factors
  JOURNAL   Int J Biochem Cell Biol 32 (11-12), 1103-1121 (2000)
   PUBMED   11137451
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC127540.10.
            
            Summary: This gene encodes a member of the krueppel family of zinc
            finger proteins, suggesting a role as a transcription factor. Its
            specific function has not been determined. This gene is located
            near the Smith-Magenis syndrome region on chromosome 17. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). Variants 1-4 all
            encode the same isoform (a).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3751849.1,
                                           SRR18074967.593277.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267768 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..761
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     Protein         1..761
                     /product="zinc finger protein 287 isoform a"
                     /note="zinc finger protein with KRAB and SCAN domains 13"
                     /calculated_mol_wt=88208
     Region          46..144
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Region          134..154
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBT7.2)"
     Region          170..227
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          <364..419
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          370..390
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          398..418
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          422..755
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          426..446
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(431,433,435,437..438,441..442,445,459,461,465..466,
                     469..470,473,487,489,491,493..494,497..498,501)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          454..474
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          482..502
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          510..530
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          538..558
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          566..586
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(571,573,575,577..578,581..582,585,599,601,605..606,
                     609..610,613,627,629,631,633..634,637..638,641)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          594..614
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          622..642
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          650..670
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          678..698
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          706..726
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          734..754
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..761
                     /gene="ZNF287"
                     /gene_synonym="ZKSCAN13; ZSCAN45"
                     /coded_by="NM_001346167.2:703..2988"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS11179.2"
                     /db_xref="GeneID:57336"
                     /db_xref="HGNC:HGNC:13502"
ORIGIN      
        1 mlasskrmns ssrsqillrw ksdkaqsgpy nvekeiltsr flrdtetcrq nfrnfpypdl
       61 agprkalsql relclkwlrp eihskeqile llvleqflti lpgevrtwvk sqypesseea
      121 vtlvedltqi leeeapqnst lsqdtpeedp rgkhafqtgw lndlvtkesm tfkdvavdit
      181 qedwelmrpv qkelyktvtl qnywnmvslg ltvyrptvip ileepwmvik eilegpspew
      241 etkaqactpv edmskltkee thtikledsy dyddrlerrg kggfwkihtd ergfslksvl
      301 sqeydpteec lskydiyrnn fekhsnlivq fdtqldnkts vynegratfn hvsygivhrk
      361 ilpgekpykc nvcgkkfrky psllkhqsth akeksyecee cgkefrhiss liahqrmhtg
      421 ekpyechqcg kafsqrahlt ihqrihtgek pykcddcgkd fsqrahltih qrthtgekpy
      481 kclecgktfs hssslinhqr vhtgekpyic necgktfsqs thllqhqkih tgkkpykcne
      541 cwkvfsqsty lirhqrihsg ekcykcnecg kafahsstli qhqtthtgek syicnicgka
      601 fsqsanltqh hrthtgekpy kcsvcgkafs qsvhltqhqr ihngekpfkc nicgkayrqg
      661 anltqhqrih tgekpykcne cgkafiysss lnqhqrthtg erpykcnecd kdfsqrtcli
      721 qhqrihtgek pyacricgkt ftqstnliqh qrvhtgakhr n
//
LOCUS       NP_001153716             172 aa            linear   PRI 29-DEC-2022
DEFINITION  RPA-interacting protein isoform c [Homo sapiens].
ACCESSION   NP_001153716
VERSION     NP_001153716.1
DBSOURCE    REFSEQ: accession NM_001160244.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 172)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 172)
  AUTHORS   Song X, Rui C, Meng L, Zhang R, Shen R, Ding H, Li J, Li J and Long
            W.
  TITLE     Long non-coding RNA RPAIN regulates the invasion and apoptosis of
            trophoblast cell lines via complement protein C1q
  JOURNAL   Oncotarget 8 (5), 7637-7646 (2017)
   PUBMED   28032589
  REMARK    GeneRIF: Suggest that increased RPAIN levels may contribute to the
            development of preeclampsia through regulating trophoblast invasion
            and apoptosis via C1q.
REFERENCE   3  (residues 1 to 172)
  AUTHORS   Namkoong S, Lee EJ, Jang IS and Park J.
  TITLE     Elevated level of human RPA interacting protein alpha (hRIPalpha)
            in cervical tumor cells is involved in cell proliferation through
            regulating RPA transport
  JOURNAL   FEBS Lett 586 (20), 3753-3760 (2012)
   PUBMED   23010595
  REMARK    GeneRIF: hRIPalpha is involved in cell proliferation through
            regulation of RPA transport
REFERENCE   4  (residues 1 to 172)
  AUTHORS   Liu J, Henao-Mejia J, Liu H, Zhao Y and He JJ.
  TITLE     Translational regulation of HIV-1 replication by HIV-1 Rev cellular
            cofactors Sam68, eIF5A, hRIP, and DDX3
  JOURNAL   J Neuroimmune Pharmacol 6 (2), 308-321 (2011)
   PUBMED   21360055
  REMARK    GeneRIF: The results show that DDX3, eIF5A, and hRIP enhance HIV-1
            internal ribosomal entry site-mediated translation.
REFERENCE   5  (residues 1 to 172)
  AUTHORS   Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML and Seielstad M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 172)
  AUTHORS   Dagle JM, Lepp NT, Cooper ME, Schaa KL, Kelsey KJ, Orr KL, Caprau
            D, Zimmerman CR, Steffen KM, Johnson KJ, Marazita ML and Murray JC.
  TITLE     Determination of genetic predisposition to patent ductus arteriosus
            in preterm infants
  JOURNAL   Pediatrics 123 (4), 1116-1123 (2009)
   PUBMED   19336370
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 172)
  AUTHORS   Park J, Seo T, Kim H and Choe J.
  TITLE     Sumoylation of the novel protein hRIP{beta} is involved in
            replication protein A deposition in PML nuclear bodies
  JOURNAL   Mol Cell Biol 25 (18), 8202-8214 (2005)
   PUBMED   16135809
  REMARK    GeneRIF: hRIPbeta localises to the PML nuclear body and transports
            replication protein A (PML) into the PML nuclear body and releases
            RPA upon UV irradiation.
REFERENCE   8  (residues 1 to 172)
  AUTHORS   Chen JZ, Huang SD, Ji CN, Pang RY, Xie Y and Xue JL.
  TITLE     Identification, expression pattern, and subcellular location of
            human RIP isoforms
  JOURNAL   DNA Cell Biol 24 (7), 464-469 (2005)
   PUBMED   16008515
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY775316.1, BC013831.1 and BI091755.1.
            
            Transcript Variant: This variant (3) differs in the 3' coding
            region and 3' UTR, compared to variant 1. It encodes isoform c,
            which has a shorter and distinct C-terminus compared to isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY775316.1, AL583709.3 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..172
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     Protein         1..172
                     /product="RPA-interacting protein isoform c"
                     /note="RAP interaction protein; nuclear transporter"
                     /calculated_mol_wt=19581
     Region          8..47
                     /region_name="RPA_interact_N"
                     /note="Replication protein A interacting N-terminal;
                     pfam14766"
                     /db_xref="CDD:434192"
     Site            18
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86UA6.2)"
     Region          60..127
                     /region_name="RPA_interact_M"
                     /note="Replication protein A interacting middle;
                     pfam14767"
                     /db_xref="CDD:434193"
     Region          136..>165
                     /region_name="RPA_interact_C"
                     /note="Replication protein A interacting C-terminal;
                     pfam14768"
                     /db_xref="CDD:434194"
     CDS             1..172
                     /gene="RPAIN"
                     /gene_synonym="HRIP; RIP"
                     /coded_by="NM_001160244.2:30..548"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS54076.1"
                     /db_xref="GeneID:84268"
                     /db_xref="HGNC:HGNC:28641"
                     /db_xref="MIM:617299"
ORIGIN      
        1 maeslrsprr slyklvgspp wkeafrqrcl ermrnsrdrl lnryrqagss gpgnsqnsfl
       61 vqevmeeewn alqsvencpe dlaqleelid mavleeiqqe linqeqsiis eyekslqfde
      121 kclsimlaew eanplicpvc tkynlritsg vvvcqcglsi pshacdtwav il
//
LOCUS       NP_775899               4462 aa            linear   PRI 22-JAN-2023
DEFINITION  dynein axonemal heavy chain 17 [Homo sapiens].
ACCESSION   NP_775899 XP_002343587 XP_002345123 XP_002347854
VERSION     NP_775899.3
DBSOURCE    REFSEQ: accession NM_173628.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 4462)
  AUTHORS   Liu Z, Wang C, Ni F, Yang F, Wei H, Li T, Wang J and Wang B.
  TITLE     Novel compound heterozygous variants of DNAH17 in a Chinese
            infertile man with multiple morphological abnormalities of sperm
            flagella
  JOURNAL   Andrologia 54 (10), e14553 (2022)
   PUBMED   35932098
  REMARK    GeneRIF: Novel compound heterozygous variants of DNAH17 in a
            Chinese infertile man with multiple morphological abnormalities of
            sperm flagella.
REFERENCE   2  (residues 1 to 4462)
  AUTHORS   Zhang B, Khan I, Liu C, Ma A, Khan A, Zhang Y, Zhang H, Kakakhel
            MBS, Zhou J, Zhang W, Li Y, Ali A, Jiang X, Murtaza G, Khan R,
            Zubair M, Yuan L, Khan M, Wang L, Zhang F, Wang X, Ma H and Shi Q.
  TITLE     Novel loss-of-function variants in DNAH17 cause multiple
            morphological abnormalities of the sperm flagella in humans and
            mice
  JOURNAL   Clin Genet 99 (1), 176-186 (2021)
   PUBMED   33070343
  REMARK    GeneRIF: Novel loss-of-function variants in DNAH17 cause multiple
            morphological abnormalities of the sperm flagella in humans and
            mice.
REFERENCE   3  (residues 1 to 4462)
  AUTHORS   Song B, Liu C, Gao Y, Marley JL, Li W, Ni X, Liu W, Chen Y, Wang J,
            Wang C, Zhou P, Wei Z, He X, Zhang F and Cao Y.
  TITLE     Novel compound heterozygous variants in dynein axonemal heavy chain
            17 cause asthenoteratospermia with sperm flagellar defects
  JOURNAL   J Genet Genomics 47 (11), 713-717 (2020)
   PUBMED   33423959
  REMARK    GeneRIF: Novel compound heterozygous variants in dynein axonemal
            heavy chain 17 cause asthenoteratospermia with sperm flagellar
            defects.
REFERENCE   4  (residues 1 to 4462)
  AUTHORS   Sha Y, Wei X, Ding L, Mei L, Huang X, Lin S, Su Z, Kong L, Zhang Y
            and Ji Z.
  TITLE     DNAH17 is associated with asthenozoospermia and multiple
            morphological abnormalities of sperm flagella
  JOURNAL   Ann Hum Genet 84 (3), 271-279 (2020)
   PUBMED   31841227
  REMARK    GeneRIF: DNAH17 is associated with asthenozoospermia and multiple
            morphological abnormalities of sperm flagella.
REFERENCE   5  (residues 1 to 4462)
  AUTHORS   Zhang B, Ma H, Khan T, Ma A, Li T, Zhang H, Gao J, Zhou J, Li Y, Yu
            C, Bao J, Ali A, Murtaza G, Yin H, Gao Q, Jiang X, Zhang F, Liu C,
            Khan I, Zubair M, Hussain HMJ, Khan R, Yousaf A, Yuan L, Lu Y, Xu
            X, Wang Y, Tao Q, Hao Q, Fang H, Cheng H, Zhang Y and Shi Q.
  TITLE     A DNAH17 missense variant causes flagella destabilization and
            asthenozoospermia
  JOURNAL   J Exp Med 217 (2) (2020)
   PUBMED   31658987
  REMARK    GeneRIF: A DNAH17 missense variant causes flagella destabilization
            and asthenozoospermia.
REFERENCE   6  (residues 1 to 4462)
  AUTHORS   Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L,
            Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F,
            Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E,
            Amselem S, Mitchell V, Toure A and Legendre M.
  TITLE     Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer
            Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to
            Asthenozoospermia
  JOURNAL   Am J Hum Genet 105 (1), 198-212 (2019)
   PUBMED   31178125
  REMARK    GeneRIF: Mutations in DNAH17 Cause Isolated Male Infertility Due to
            Asthenozoospermia.
REFERENCE   7  (residues 1 to 4462)
  AUTHORS   Fan X, Guo H, Dai B, He L, Zhou D and Lin H.
  TITLE     The association between methylation patterns of DNAH17 and
            clinicopathological factors in hepatocellular carcinoma
  JOURNAL   Cancer Med 8 (1), 337-350 (2019)
   PUBMED   30575322
  REMARK    GeneRIF: We found that overexpression of DNAH17 by down-regulation
            of methylation levels might contribute to hepatocellular carcinoma
            (HCC) initiation and progression. In addition, the hypomethylation
            status of the DNAH17 gene, both in tumor tissue and adjacent
            non-cancerous tissue, could be a promising biomarker for tumor
            thrombosis in HCC.
REFERENCE   8  (residues 1 to 4462)
  AUTHORS   Milisav I and Affara NA.
  TITLE     A potential human axonemal dynein heavy-chain gene maps to 17q25
  JOURNAL   Mamm Genome 9 (5), 404-407 (1998)
   PUBMED   9545504
REFERENCE   9  (residues 1 to 4462)
  AUTHORS   Neesen J, Koehler MR, Kirschner R, Steinlein C, Kreutzberger J,
            Engel W and Schmid M.
  TITLE     Identification of dynein heavy chain genes expressed in human and
            mouse testis: chromosomal localization of an axonemal dynein gene
  JOURNAL   Gene 200 (1-2), 193-202 (1997)
   PUBMED   9373155
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC016182.24 and AC061992.11.
            On or before Aug 26, 2009 this sequence version replaced
            XP_002347854.1, XP_002345123.1, XP_002343587.1, NP_775899.2.
            
            Summary: Dyneins are microtubule-associated motor protein complexes
            composed of several heavy, light, and intermediate chains. DNAH17
            is a heavy chain associated with axonemal dynein (Milisav and
            Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000389840.7/ ENSP00000374490.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..4462
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..4462
                     /product="dynein axonemal heavy chain 17"
                     /note="dynein, axonemal, heavy polypeptide 17; dynein
                     heavy chain 17, axonemal; ciliary dynein heavy chain 17;
                     dynein light chain 2, axonemal; axonemal beta dynein heavy
                     chain 17; dynein axonemal light chain 2; ciliary dynein
                     heavy chain-like protein 1; axonemal dynein heavy
                     chain-like protein 1"
                     /calculated_mol_wt=509185
     Region          1..1808
                     /region_name="Stem. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          190..767
                     /region_name="DHC_N1"
                     /note="Dynein heavy chain, N-terminal region 1; pfam08385"
                     /db_xref="CDD:429963"
     Region          1269..1675
                     /region_name="DHC_N2"
                     /note="Dynein heavy chain, N-terminal region 2; pfam08393"
                     /db_xref="CDD:429971"
     Region          1496..4127
                     /region_name="DYN1"
                     /note="Dynein, heavy chain [Cytoskeleton]; COG5245"
                     /db_xref="CDD:227570"
     Region          1809..2135
                     /region_name="AAA_6"
                     /note="Hydrolytic ATP binding site of dynein motor region
                     D1; pfam12774"
                     /db_xref="CDD:432774"
     Region          1809..2030
                     /region_name="AAA 1. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          2090..2311
                     /region_name="AAA 2. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          2417..2665
                     /region_name="AAA 3. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          2763..3012
                     /region_name="AAA 4. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          3027..3313
                     /region_name="Stalk. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          3043..3386
                     /region_name="MT"
                     /note="Microtubule-binding stalk of dynein motor;
                     pfam12777"
                     /db_xref="CDD:289543"
     Region          3405..3632
                     /region_name="AAA 5. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          3842..4068
                     /region_name="AAA 6. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          4147..4182
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          4165..4460
                     /region_name="Dynein_C"
                     /note="Dynein heavy chain C-terminal domain; pfam18199"
                     /db_xref="CDD:436342"
     CDS             1..4462
                     /gene="DNAH17"
                     /gene_synonym="DNAHL1; DNEL2; SPGF39"
                     /coded_by="NM_173628.4:128..13516"
                     /db_xref="CCDS:CCDS11757.2"
                     /db_xref="GeneID:8632"
                     /db_xref="HGNC:HGNC:2946"
                     /db_xref="MIM:610063"
ORIGIN      
        1 mtmapdvrle yleevasivl kfkpdkwskl igaeenvalf teffekpdvq vlvltlnaag
       61 miipclgfpq slkskgvyfi ktkseninkd nyrarllygd isptpvdqli avveevlssl
      121 lnqsenmagw pqvvsedivk qvhrlknemf vmsgkikgkt llpipehlgs ldgtlesmer
      181 ipssldnlll haiettiidw shqirdvlsk dsaqalldgl hplpqvefef wdtrllnlkc
      241 iheqlnrpkv nkiveileka kscywpalqn vytnvteglk eandivlylk plrilleeme
      301 qadftmlptf iakvldticf iwatseyynt pariivilqe fcnqiiemtr tflspeevlk
      361 glqgeieevl sgislavnvl kelyqtydfc cvnmklffkd kepvpwefps slafsrinsf
      421 fqriqtieel yktaieflkl ekielggvrg nllgslvtri ydevfelvkv fadckydpld
      481 pgdsnfdrdy adfeikiqdl drrlatifcq gfddcsciks sakllymcgg lmerplilae
      541 vaprysvmle lfdaeldnak ilydaqmaas eegniplihk nmppvagqlk wslelqerle
      601 vsmkhlkhve hpvmsgaeak ltyqkydemm ellrchreki yqqwvagvdq dchfnlgqpl
      661 ilrdaasnli hvnfskalva vlrevkylnf qqqkeipdsa eslfsenetf rkfvgnleli
      721 vgwyneikti vkavefllik seleaidvkl lsaettlfwn gegvfqyiqe vreilhnlqn
      781 rmqkakqnie gisqamkdws anplferkdn kkealldldg rianlnkrya avrdagvkiq
      841 amvaenaelf radtlslpwk dyviyiddmv ldefdqfirk slsflmdnmv idesiaplfe
      901 irmeldedgl tfnptlevgs drgflalieg lvndiynvar liprlakdrm nykmdlednt
      961 dliemreevs slvinamkea eeyqdsfery sylwtdnlqe fmknfliygc avtaedldtw
     1021 tddtipktpp tlaqfqeqid syeklyeevs kcentkvfhg wlqcdcrpfk qallstirrw
     1081 gfmfkrhlsn hvtnsladle afmkvarmgl tkplkegdyd glvevmghlm kvkerqaatd
     1141 nmfeplkqti ellktygeem peeihlklqe lpehwantkk laiqvkltva plqanevsil
     1201 rrkcqqfelk qhefrerfrr eapfsfsdpn pykslnkqqk sisamegime alsksgglfe
     1261 vpvpdykqlk achrevrllk elwdmvvvvn tsiedwkttk wkdinveqmd idckkfakdm
     1321 rsldkemktw dafvgldntv knvitslrav selqnpaire rhwqqlmqat qvkfkmseet
     1381 tladllqlnl hsyedevrni vdkavkesgm ekvlkaldst wsmmefqhep hprtgtmmlk
     1441 ssevlvetle dnqvqlqnlm mskylahflk evtswqqkls tadsvisiwf evqrtwshle
     1501 sifigsedir tqlpgdsqrf ddinqefkal medavktpnv veatskpgly nklealkksl
     1561 aicekalaey letkrlafpr fyfvssadll dilsngndpv evsrhlsklf dslcklkfrl
     1621 dasdkplkvg lgmyskedey mvfdqecdls gqvevwlnrv ldrmcstlrh eipeavvtye
     1681 ekpreqwild ypaqvaltct qiwwttevgl afarleegye nairdynkkq isqlnvlitl
     1741 lmgnlnagdr mkimtictid vhardvvakm ivakvessqa ftwqaqlrhr wdeekrhcfa
     1801 nicdaqiqys yeylgntprl vitpltdrcy itltqslhli mggapagpag tgktettkdl
     1861 gralgtmvyv fncseqmdyk scgniykgla qtgawgcfde fnrisvevls viavqvkcvq
     1921 dairakkkaf nflgeiigli ptvgifitmn pgyagraelp enlkalfrpc amvvpdfeli
     1981 ceimlmaegf learllarkf itlytlckel lskqdhydwg lraiksvlvv agslkrgdps
     2041 raedqvlmra lrdfnipkiv tddlpvfmgl igdlfpaldv prkrdlnfek iikqsivelk
     2101 lqaedsfvlk vvqleellqv rhsvfivgna gsgksqvlks lnktyqnlkr kpvavdldpk
     2161 avtcdelfgi inpvtrewkd glfstimrdl anithdgpkw iildgdidpm wieslntvmd
     2221 dnkvltlasn eriplnrtmr lvfeishlrt atpatvsrag ilyinpadlg wnpvvsswie
     2281 rrkvqsekan lmilfdkylp tcldklrfgf kkitpvpeit viqtilylle clltektvpp
     2341 dsprelyely fvftcfwafg gamfqdqlvd yrvefskwwi nefktikfps qgtifdyyid
     2401 pdtkkflpwt dkvpsfeldp dvplqaslvh ttetiriryf mdllmekswp vmlvgnagtg
     2461 ksvlmgdkle slntdnylvq avpfnfytts amlqgvlekp lekksgrnyg ppgtkklvyf
     2521 iddmnmpevd kygtvaphtl irqhmdhrhw ydrhkltlkd ihncqyvacm nptsgsftid
     2581 srlqrhfcvf avsfpgqeal ttiyntiltq hlafrsvsma iqrissqlva aalalhqkit
     2641 atflptaikf hyvfnlrdls nifqgllfst aevlktpldl vrlwlheter vygdkmvdek
     2701 dqetlhrvtm astkkffddl gdellfakpn ifchfaqgig dpkyvpvtdm aplnkllvdv
     2761 ldsynevnav mnlvlfedav ahicrinril esprgnallv gvggsgkqsl srlaayisgl
     2821 dvfqitlkkg ygipdlkidl aaqyikaavk nvpsvflmtd sqvaeeqflv lindllasge
     2881 ipglfmedev eniissmrpq vkslgmndtr etcwkffiek vrrqlkvilc fspvgsvlrv
     2941 rarkfpavvn ctaidwfhew pedalvsvsa rfleetegip wevkasisff msyvhttvne
     3001 msrvylater rynyttpktf leqiklyqnl lakkrtelva kierlenglm klqstasqvd
     3061 dlkaklaiqe aelkqknesa dqliqvvgie aekvskekai adqeevkvev inknvtekqk
     3121 acetdlakae pallaaqeal dtlnknnlte lksfgsppda vvnvtaavmi ltapggkipk
     3181 dkswkaakim mgkvdtflds lkkfdkehip eaclkafkpy qgnptfdpef irskstaaag
     3241 lcswcinivr fyevycdvap krqaleeana elaeaqekls riknkiaeln anlsnltsaf
     3301 ekataekikc qqeadatnrv illanrlvgg lasenirwae svenfrsqgv tlcgdvllis
     3361 afvsyvgyft kkyrnelmek fwipyihnlk vpipitngld plslltddad vatwnnqglp
     3421 sdrmstenat ilgnterwpl ivdaqlqgik wiknkyrsel kairlgqksy ldvieqaise
     3481 gdtllienig etvdpvldpl lgrntikkgk yikigdkeve yhpkfrlilh tkyfnphykp
     3541 emqaqctlin flvtrdgled qllaavvake rpdleqlkan ltksqnefki vlkeledsll
     3601 arlsaasgnf lgdtalvenl ettkhtasei eekvveakit evkinearen yrpaaerasl
     3661 lyfilndlnk inpvyqfslk afnvvfekai qrttpanevk qrvinltdei tysvymytar
     3721 glferdklif laqvtfqvls mkkelnpvel dfllrfpfka gvvspvdflq hqgwggikal
     3781 semdefknld sdiegsakrw kklveseape keifpkewkn ktalqklcmv rclrpdrmty
     3841 aiknfveekm gskfvegrsv efsksyeess pstsiffils pgvdplkdve algkklgfti
     3901 dngklhnvsl gqgqevvaen aldvaaekgh wvilqnihlv arwlgtldkk lehystgshe
     3961 dyrvfisaep apspethiip qgilenaiki tnepptgmha nlhkaldlft qdtlemctke
     4021 mefkcmlfal cyfhavvaer rkfgaqgwnr sypfnngdlt isinvlynyl eanpkvpwdd
     4081 lrylfgeimy gghitddwdr rlcrtylaey irtemlegdv llapgfqipp nldykgyhey
     4141 idenlppesp ylyglhpnae igfltvtsek lfrtvlemqp ketdsgagtg vsreekvkav
     4201 lddilekipe tfnmaeimak aaektpyvvv afqecermni ltnemrrslk elnlglkgel
     4261 tittdvedls talfydtvpd twvaraypsm mglaawyadl llrireleaw ttdfalpttv
     4321 wlagffnpqs fltaimqsma rknewpldkm clsvevtkkn redmtappre gsyvyglfme
     4381 garwdtqtgv iaearlkelt pampvifika ipvdrmetkn iyecpvyktr irgptyvwtf
     4441 nlktkekaak wilaavalll qv
//
LOCUS       NP_001284594             613 aa            linear   PRI 05-MAR-2023
DEFINITION  tetratricopeptide repeat protein 39A isoform 6 [Homo sapiens].
ACCESSION   NP_001284594 XP_005270698
VERSION     NP_001284594.1
DBSOURCE    REFSEQ: accession NM_001297665.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 613)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   2  (residues 1 to 613)
  AUTHORS   Kuang WW, Thompson DA, Hoch RV and Weigel RJ.
  TITLE     Differential screening and suppression subtractive hybridization
            identified genes differentially expressed in an estrogen
            receptor-positive breast carcinoma cell line
  JOURNAL   Nucleic Acids Res 26 (4), 1116-1123 (1998)
   PUBMED   9461476
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY029911.1, BC028374.2, AK000220.1 and AF007170.1.
            On Jul 10, 2014 this sequence version replaced XP_005270698.1.
            
            Transcript Variant: This variant (6) contains multiple differences,
            compared to variant 1, including initiation of translation at an
            alternate start codon. The encoded isoform (6) has a distinct
            N-terminus and is longer than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC028374.2, SRR5189667.300844.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..613
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     Protein         1..613
                     /product="tetratricopeptide repeat protein 39A isoform 6"
                     /note="tetratricopeptide repeat protein 39A; TPR repeat
                     protein 39A; differentially expressed in MCF7 with
                     estradiol protein 6; testicular tissue protein Li 213;
                     differentially expressed in MCF-7 with estradiol protein
                     6"
                     /calculated_mol_wt=69648
     Region          29..518
                     /region_name="DUF3808"
                     /note="Protein of unknown function (DUF3808); pfam10300"
                     /db_xref="CDD:431204"
     Region          315..348
                     /region_name="TPR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SRH9.1)"
     Region          505..538
                     /region_name="TPR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SRH9.1)"
     Region          546..579
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SRH9.1)"
     CDS             1..613
                     /gene="TTC39A"
                     /gene_synonym="C1orf34; DEME-6"
                     /coded_by="NM_001297665.1:108..1949"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS72790.1"
                     /db_xref="GeneID:22996"
                     /db_xref="HGNC:HGNC:18657"
                     /db_xref="MIM:619885"
ORIGIN      
        1 mgqkghkdsl ypcggtpess lhealdqcmt aldlfltnqf sealsylkpr tkesmyhslt
       61 yatilemqam mtfdpqdill agnmmkeaqm lcqrhrrkss vtdsfsslvn rptlgqftee
      121 eihaevcyae cllqraaltf lqgsshggav rpralhdpsh acscppgpgr qhlfllqden
      181 mvsfikggik vrnsyqtyke ldslvqssqy ckgenhphfe ggvklgvgaf nltlsmlptr
      241 ilrllefvgf sgnkdygllq leegasghsf rsvlcvmlll cyhtfltfvl gtgnvnieea
      301 ekllkpylnr ypkgaiflff agrievikgn idaairrfee cceaqqhwkq fhhmcywelm
      361 wcftykgqwk msyfyadlls kencwskaty iymkaaylsm fgkedhkpfg ddevelfrav
      421 pglklkiagk slptekfair ksrryfssnp islpvpalem myiwngyavi gkqpkltdgi
      481 leiitkaeem lekgpeneys vddeclvkll kglclkylgr vqeaeenfrs isanekkiky
      541 dhylipnall elalllmeqd rneeaiklle sakqnyknys mesrthfriq aatlqakssl
      601 enssrsmvss vsl
//
LOCUS       NP_001304950             158 aa            linear   PRI 15-MAR-2023
DEFINITION  apolipoprotein A-I isoform 2 [Homo sapiens].
ACCESSION   NP_001304950
VERSION     NP_001304950.1
DBSOURCE    REFSEQ: accession NM_001318021.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 158)
  AUTHORS   Sun X and Wu X.
  TITLE     Association of apolipoprotein A1 with osteoporosis: a
            cross-sectional study
  JOURNAL   BMC Musculoskelet Disord 24 (1), 157 (2023)
   PUBMED   36864426
  REMARK    GeneRIF: Association of apolipoprotein A1 with osteoporosis: a
            cross-sectional study.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 158)
  AUTHORS   Gorshkova IN, Meyers NL, Herscovitz H, Mei X and Atkinson D.
  TITLE     Human apoA-I[Lys107del] mutation affects lipid surface behavior of
            apoA-I and its ability to form large nascent HDL
  JOURNAL   J Lipid Res 64 (2), 100319 (2023)
   PUBMED   36525992
  REMARK    GeneRIF: Human apoA-I[Lys107del] mutation affects lipid surface
            behavior of apoA-I and its ability to form large nascent HDL.
REFERENCE   3  (residues 1 to 158)
  AUTHORS   Wang YJ, Mu HN, Yang RY, Zhang WD, Wang XY, Wang SM, Ji FS, Dong J
            and Yu X.
  TITLE     [Value of glycosylated hemoglobin A1c and apolipoprotein A-1 ratio
            on predicting outcome of patients with acute coronary syndrome]
  JOURNAL   Zhonghua Xin Xue Guan Bing Za Zhi 51 (1), 38-44 (2023)
   PUBMED   36655240
  REMARK    GeneRIF: [Value of glycosylated hemoglobin A1c and apolipoprotein
            A-1 ratio on predicting outcome of patients with acute coronary
            syndrome].
REFERENCE   4  (residues 1 to 158)
  AUTHORS   Tanyanskiy DA, Shavva VS, Dizhe EB, Oleinikova GN, Lizunov AV,
            Nekrasova EV, Mogilenko DA, Larionova EE, Orlov SV and Denisenko
            AD.
  TITLE     Adiponectin Stimulates Apolipoprotein A-1 Gene Expression in HepG2
            Cells via AMPK, PPARalpha, and LXRs Signaling Mechanisms
  JOURNAL   Biochemistry (Mosc) 87 (11), 1252-1259 (2022)
   PUBMED   36509728
  REMARK    GeneRIF: Adiponectin Stimulates Apolipoprotein A-1 Gene Expression
            in HepG2 Cells via AMPK, PPARalpha, and LXRs Signaling Mechanisms.
REFERENCE   5  (residues 1 to 158)
  AUTHORS   Kingwell BA, Chapman MJ, Kontush A and Miller NE.
  TITLE     HDL-targeted therapies: progress, failures and future
  JOURNAL   Nat Rev Drug Discov 13 (6), 445-464 (2014)
   PUBMED   24854407
  REMARK    Review article
REFERENCE   6  (residues 1 to 158)
  AUTHORS   Breslow,J.L., Ross,D., McPherson,J., Williams,H., Kurnit,D.,
            Nussbaum,A.L., Karathanasis,S.K. and Zannis,V.I.
  TITLE     Isolation and characterization of cDNA clones for human
            apolipoprotein A-I
  JOURNAL   Proc Natl Acad Sci U S A 79 (22), 6861-6865 (1982)
   PUBMED   6294659
REFERENCE   7  (residues 1 to 158)
  AUTHORS   Weisgraber,K.H. and Mahley,R.W.
  TITLE     Apoprotein (E--A-II) complex of human plasma lipoproteins. I.
            Characterization of this mixed disulfide and its identification in
            a high density lipoprotein subfraction
  JOURNAL   J Biol Chem 253 (17), 6281-6288 (1978)
   PUBMED   210174
REFERENCE   8  (residues 1 to 158)
  AUTHORS   Brewer,H.B. Jr., Fairwell,T., LaRue,A., Ronan,R., Houser,A. and
            Bronzert,T.J.
  TITLE     The amino acid sequence of human APOA-I, an apolipoprotein isolated
            from high density lipoproteins
  JOURNAL   Biochem Biophys Res Commun 80 (3), 623-630 (1978)
   PUBMED   204308
REFERENCE   9  (residues 1 to 158)
  AUTHORS   Ritter,M.C. and Scanus,A.M.
  TITLE     Role of apolipoprotein A-I in the structure of human serum high
            density lipoproteins. Reconstitution studies
  JOURNAL   J Biol Chem 252 (4), 1208-1216 (1977)
   PUBMED   190223
REFERENCE   10 (residues 1 to 158)
  AUTHORS   Baker,H.N., Gotto,A.M. Jr. and Jackson,R.L.
  TITLE     The primary structure of human plasma high density apolipoprotein
            glutamine I (ApoA-I). II. The amino acid sequence and alignment of
            cyanogen bromide fragments IV, III, and I
  JOURNAL   J Biol Chem 250 (7), 2725-2738 (1975)
   PUBMED   164450
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD558050.1, BU600916.1 and
            X02162.1.
            
            Summary: This gene encodes apolipoprotein A-I, which is the major
            protein component of high density lipoprotein (HDL) in plasma. The
            encoded preproprotein is proteolytically processed to generate the
            mature protein, which promotes cholesterol efflux from tissues to
            the liver for excretion, and is a cofactor for lecithin
            cholesterolacyltransferase (LCAT), an enzyme responsible for the
            formation of most plasma cholesteryl esters. This gene is closely
            linked with two other apolipoprotein genes on chromosome 11.
            Defects in this gene are associated with HDL deficiencies,
            including Tangier disease, and with systemic non-neuropathic
            amyloidosis. Alternative splicing results in multiple transcript
            variants, at least one of which encodes a preproprotein. [provided
            by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (4) differs in the 5' UTR, lacks a
            portion of the 5' coding region and uses a downstream translation
            start site compared to variant 1. The encoded isoform (2) has a
            shorter N-terminus and lacks a predicted signal peptide compared to
            isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BU600916.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2152474
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..158
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     Protein         1..158
                     /product="apolipoprotein A-I isoform 2"
                     /note="apo-AI; epididymis secretory sperm binding protein;
                     apolipoprotein A-I"
                     /calculated_mol_wt=18178
     Region          <1..133
                     /region_name="Apolipoprotein"
                     /note="Apolipoprotein A1/A4/E domain; pfam01442"
                     /db_xref="CDD:426264"
     CDS             1..158
                     /gene="APOA1"
                     /gene_synonym="apo(a); HPALP2"
                     /coded_by="NM_001318021.1:650..1126"
                     /note="isoform 2 is encoded by transcript variant 4"
                     /db_xref="GeneID:335"
                     /db_xref="HGNC:HGNC:600"
                     /db_xref="MIM:107680"
ORIGIN      
        1 mskdleevka kvqpylddfq kkwqeemely rqkveplrae lqegarqklh elqeklsplg
       61 eemrdrarah vdalrthlap ysdelrqrla arlealkeng garlaeyhak atehlstlse
      121 kakpaledlr qgllpvlesf kvsflsalee ytkklntq
//
LOCUS       NP_001278274             772 aa            linear   PRI 16-MAR-2023
DEFINITION  cyclin-dependent kinase 11B isoform 10 [Homo sapiens].
ACCESSION   NP_001278274 XP_006711130
VERSION     NP_001278274.1
DBSOURCE    REFSEQ: accession NM_001291345.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 772)
  AUTHORS   Blazek D.
  TITLE     Therapeutic potential of CDK11 in cancer
  JOURNAL   Clin Transl Med 13 (3), e1201 (2023)
   PUBMED   36855776
  REMARK    GeneRIF: Therapeutic potential of CDK11 in cancer.
REFERENCE   2  (residues 1 to 772)
  AUTHORS   An S, Kwon OS, Yu J and Jang SK.
  TITLE     A cyclin-dependent kinase, CDK11/p58, represses cap-dependent
            translation during mitosis
  JOURNAL   Cell Mol Life Sci 77 (22), 4693-4708 (2020)
   PUBMED   32030451
  REMARK    GeneRIF: A cyclin-dependent kinase, CDK11/p58, represses
            cap-dependent translation during mitosis.
REFERENCE   3  (residues 1 to 772)
  AUTHORS   Ou D, Chen L, He J, Rong Z, Gao J, Li Z, Liu L, Tang F, Li J, Deng
            Y and Sun L.
  TITLE     CDK11 negatively regulates Wnt/beta-catenin signaling in the
            endosomal compartment by affecting microtubule stability
  JOURNAL   Cancer Biol Med 17 (2), 328-342 (2020)
   PUBMED   32587772
  REMARK    GeneRIF: CDK11 negatively regulates Wnt/beta-catenin signaling in
            the endosomal compartment by affecting microtubule stability.
REFERENCE   4  (residues 1 to 772)
  AUTHORS   Gajduskova P, Ruiz de Los Mozos I, Rajecky M, Hluchy M, Ule J and
            Blazek D.
  TITLE     CDK11 is required for transcription of replication-dependent
            histone genes
  JOURNAL   Nat Struct Mol Biol 27 (5), 500-510 (2020)
   PUBMED   32367068
  REMARK    GeneRIF: CDK11 is required for transcription of
            replication-dependent histone genes.
REFERENCE   5  (residues 1 to 772)
  AUTHORS   Feng Y, Liao Y, Zhang J, Shen J, Shao Z, Hornicek F and Duan Z.
  TITLE     Transcriptional activation of CBFbeta by CDK11p110 is necessary to
            promote osteosarcoma cell proliferation
  JOURNAL   Cell Commun Signal 17 (1), 125 (2019)
   PUBMED   31610798
  REMARK    GeneRIF: Transcriptional activation of CBFbeta by CDK11(p110) is
            necessary to promote osteosarcoma cell proliferation
            Erratum:[Cell Commun Signal. 2019 Oct 29;17(1):138. PMID: 31665012]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 772)
  AUTHORS   White PS, Maris JM, Beltinger C, Sulman E, Marshall HN, Fujimori M,
            Kaufman BA, Biegel JA, Allen C, Hilliard C, Valentine MB, Look AT,
            Enomoto H, Sakiyama S and Brodeur GM.
  TITLE     A region of consistent deletion in neuroblastoma maps within human
            chromosome 1p36.2-36.3
  JOURNAL   Proc Natl Acad Sci U S A 92 (12), 5520-5524 (1995)
   PUBMED   7777541
REFERENCE   7  (residues 1 to 772)
  AUTHORS   Lahti JM, Valentine M, Xiang J, Jones B, Amann J, Grenet J,
            Richmond G, Look AT and Kidd VJ.
  TITLE     Alterations in the PITSLRE protein kinase gene complex on
            chromosome 1p36 in childhood neuroblastoma
  JOURNAL   Nat Genet 7 (3), 370-375 (1994)
   PUBMED   7920654
REFERENCE   8  (residues 1 to 772)
  AUTHORS   Eipers PG, Lahti JM and Kidd VJ.
  TITLE     Structure and expression of the human p58clk-1 protein kinase
            chromosomal gene
  JOURNAL   Genomics 13 (3), 613-621 (1992)
   PUBMED   1639388
REFERENCE   9  (residues 1 to 772)
  AUTHORS   Eipers PG, Barnoski BL, Han J, Carroll AJ and Kidd VJ.
  TITLE     Localization of the expressed human p58 protein kinase chromosomal
            gene to chromosome 1p36 and a highly related sequence to chromosome
            15
  JOURNAL   Genomics 11 (3), 621-629 (1991)
   PUBMED   1774066
REFERENCE   10 (residues 1 to 772)
  AUTHORS   Bunnell BA, Heath LS, Adams DE, Lahti JM and Kidd VJ.
  TITLE     Increased expression of a 58-kDa protein kinase leads to changes in
            the CHO cell cycle
  JOURNAL   Proc Natl Acad Sci U S A 87 (19), 7467-7471 (1990)
   PUBMED   2217177
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1991 Mar 15;88(6):2612]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC362247.1, DC295949.1,
            BC140714.1, AK000081.1, DB516340.1, AA778148.1 and FO704657.2.
            On Apr 5, 2014 this sequence version replaced XP_006711130.1.
            
            Summary: This gene encodes a member of the serine/threonine protein
            kinase family. Members of this kinase family are known to be
            essential for eukaryotic cell cycle control. Due to a segmental
            duplication, this gene shares very high sequence identity with a
            neighboring gene. These two genes are frequently deleted or altered
            in neuroblastoma. The protein kinase encoded by this gene can be
            cleaved by caspases and may play a role in cell apoptosis.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Apr 2014].
            
            Transcript Variant: This variant (10) uses two alternate splice
            sites in the central coding region, compared to variant 1. The
            encoded isoform (10) is shorter, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK304679.1, SRR7346977.1006653.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..772
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     Protein         1..772
                     /product="cyclin-dependent kinase 11B isoform 10"
                     /EC_number="2.7.11.22"
                     /note="cell division cycle 2-like 1 (PITSLRE proteins);
                     CDC-related protein kinase p58; PITSLRE
                     serine/threonine-protein kinase CDC2L1; cell division
                     protein kinase 11B; galactosyltransferase-associated
                     protein kinase p58/GTA; p58 CLK-1"
                     /calculated_mol_wt=90098
     Region          409..700
                     /region_name="STKc_CDC2L1"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Cell Division Cycle 2-like 1; cd07843"
                     /db_xref="CDD:173741"
     Site            order(421..424,429,442,444,461,475,493..496,499,501..502,
                     539,541,543..544,546,557,560,572,574..577,579,617..618)
                     /site_type="active"
                     /db_xref="CDD:173741"
     Site            order(421..424,429,442,444,475,493..496,499,502,543..544,
                     546,557)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:173741"
     Site            order(453..455,457,460..461,463..464,467..468,480,482,489,
                     528,531..534,562,564..567,571..572,686,690..692)
                     /site_type="other"
                     /note="CDK/cyclin interface [polypeptide binding]"
                     /db_xref="CDD:173741"
     Site            order(461,501,539,541,560,572,574..577,579,617..618)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:173741"
     Site            order(556..567,569..579)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:173741"
     CDS             1..772
                     /gene="CDK11B"
                     /gene_synonym="CDC2L1; CDK11; CDK11-p110; CDK11-p46;
                     CDK11-p58; CLK-1; p58; p58CDC2L1; p58CLK-1; PITSLREA;
                     PK58"
                     /coded_by="NM_001291345.2:105..2423"
                     /note="isoform 10 is encoded by transcript variant 10"
                     /db_xref="GeneID:984"
                     /db_xref="HGNC:HGNC:1729"
                     /db_xref="MIM:176873"
ORIGIN      
        1 mgdekdswkv ktldeilqek krrkeqeeka eikrlknsdd rdskrdslee gelrdhrmei
       61 tirnspyrre dsmedrgeed dslaikppqq msrkekahhr kdekrkekrk harvkekere
      121 herrkrhree qdkarrewer qkrremareh srrerdrleq lerkrererk mreqqkeqre
      181 qkererraee rrkerearre vsahhrtmre dysdkvkash wsrspprppr erfelgdgrk
      241 pvkeekmeer dllsdlqdis dserktssae sssaesgsgs eeeeeeeeee eeegstsees
      301 eeeeeeeeee eeetgsnsee aseqsaeevs eeemsedeer enenhllvvp esrfdrdsge
      361 seeaeeevge gtpqssalte gdyvpdspal spielkqelp kylpalqgcr sveefqclnr
      421 ieegtygvvy rakdkktdei valkrlkmek ekegfpitsl reintilkaq hpnivtvrei
      481 vvgsnmdkiy ivmnyvehdl kslmetmkqp flpgevktlm iqllrgvkhl hdnwilhrdl
      541 ktsnlllsha gilkvgdfgl areygsplka ytpvvvtlwy rapelllgak eystavdmws
      601 vgcifgellt qkplfpgkse idqinkvfkd lgtpsekiwp gyselpavkk mtfsehpynn
      661 lrkrfgalls dqgfdlmnkf ltyfpgrris aedglkheyf retplpidps mfptwpakse
      721 qqrvkrgtsp rppegglgys qlgdddlket gfhltttnqg asaagpgfsl kf
//
LOCUS       NP_001231919             995 aa            linear   PRI 19-MAR-2023
DEFINITION  protein phosphatase 1 regulatory subunit 12A isoform c [Homo
            sapiens].
ACCESSION   NP_001231919
VERSION     NP_001231919.1
DBSOURCE    REFSEQ: accession NM_001244990.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 995)
  AUTHORS   Picard JY, Morin G, Devouassoux-Shisheboran M, Van der Smagt J,
            Klosowski S, Pienkowski C, Pierre-Renoult P, Masson C, Bole C and
            Josso N.
  TITLE     Persistent Mullerian duct syndrome associated with genetic defects
            in the regulatory subunit of myosin phosphatase
  JOURNAL   Hum Reprod 37 (12), 2952-2959 (2022)
   PUBMED   36331510
  REMARK    GeneRIF: Persistent Mullerian duct syndrome associated with genetic
            defects in the regulatory subunit of myosin phosphatase.
REFERENCE   2  (residues 1 to 995)
  AUTHORS   Xie Q, Liu R, Zou Z, Feng Y, Huang Y, Xu G, Sun W, Liang Y and
            Zhong W.
  TITLE     MYPT1 inhibits the metastasis of renal clear cell carcinoma via the
            MAPK8/N-cadherin pathway
  JOURNAL   FEBS Open Bio 12 (11), 2083-2095 (2022)
   PUBMED   36106411
  REMARK    GeneRIF: MYPT1 inhibits the metastasis of renal clear cell
            carcinoma via the MAPK8/N-cadherin pathway.
REFERENCE   3  (residues 1 to 995)
  AUTHORS   Saldanha PA, Bolanle IO, Palmer TM, Nikitenko LL and Rivero F.
  TITLE     Complex Transcriptional Profiles of the PPP1R12A Gene in Cells of
            the Circulatory System as Revealed by In Silico Analysis and
            Reverse Transcription PCR
  JOURNAL   Cells 11 (15), 2315 (2022)
   PUBMED   35954160
  REMARK    GeneRIF: Complex Transcriptional Profiles of the PPP1R12A Gene in
            Cells of the Circulatory System as Revealed by In Silico Analysis
            and Reverse Transcription PCR.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 995)
  AUTHORS   Machida H, Ito M, Okamoto R, Shiraki K, Isaka N, Hartshorne DJ and
            Nakano T.
  TITLE     Molecular cloning and analysis of the 5'-flanking region of the
            human MYPT1 gene
  JOURNAL   Biochim Biophys Acta 1517 (3), 424-429 (2001)
   PUBMED   11342221
REFERENCE   5  (residues 1 to 995)
  AUTHORS   Takahashi N, Ito M, Tanaka J, Nakano T, Kaibuchi K, Odai H and
            Takemura K.
  TITLE     Localization of the gene coding for myosin phosphatase, target
            subunit 1 (MYPT1) to human chromosome 12q15-q21
  JOURNAL   Genomics 44 (1), 150-152 (1997)
   PUBMED   9286714
REFERENCE   6  (residues 1 to 995)
  AUTHORS   Kimura K, Ito M, Amano M, Chihara K, Fukata Y, Nakafuku M, Yamamori
            B, Feng J, Nakano T, Okawa K, Iwamatsu A and Kaibuchi K.
  TITLE     Regulation of myosin phosphatase by Rho and Rho-associated kinase
            (Rho-kinase)
  JOURNAL   Science 273 (5272), 245-248 (1996)
   PUBMED   8662509
REFERENCE   7  (residues 1 to 995)
  AUTHORS   Alkhunaizi,E. and Chitayat,D.
  TITLE     PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   34499436
REFERENCE   8  (residues 1 to 995)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301702
REFERENCE   9  (residues 1 to 995)
  AUTHORS   Slee JJ, Smart RD and Viljoen DL.
  TITLE     Deletion of chromosome 13 in Moebius syndrome
  JOURNAL   J Med Genet 28 (6), 413-414 (1991)
   PUBMED   1870098
REFERENCE   10 (residues 1 to 995)
  AUTHORS   Ziter,F.A., Wiser,W.C. and Robinson,A.
  TITLE     Three-generation pedigree of a Mobius syndrome variant with
            chromosome translocation
  JOURNAL   Arch Neurol 34 (7), 437-442 (1977)
   PUBMED   880069
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC074270.25, AC018476.26 and
            AC073569.26.
            
            Summary: Myosin phosphatase target subunit 1, which is also called
            the myosin-binding subunit of myosin phosphatase, is one of the
            subunits of myosin phosphatase. Myosin phosphatase regulates the
            interaction of actin and myosin downstream of the guanosine
            triphosphatase Rho. The small guanosine triphosphatase Rho is
            implicated in myosin light chain (MLC) phosphorylation, which
            results in contraction of smooth muscle and interaction of actin
            and myosin in nonmuscle cells. The guanosine triphosphate
            (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted
            with the myosin-binding subunit (MBS) of myosin phosphatase, which
            regulates the extent of phosphorylation of MLC. Rho-associated
            kinase (Rho-kinase), which is activated by GTP. RhoA,
            phosphorylated MBS and consequently inactivated myosin phosphatase.
            Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased
            phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin
            phosphatase through the action of Rho-kinase. Several transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jan 2009].
            
            Transcript Variant: This variant (4) differs in the 5' UTR and
            lacks an exon in the coding region, compared to variant 1. The
            encoded isoform (c) is shorter than isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF458589.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..995
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.2-q21.31"
     Protein         1..995
                     /product="protein phosphatase 1 regulatory subunit 12A
                     isoform c"
                     /note="myosin phosphatase, target subunit 1; myosin
                     phosphatase-targeting subunit 1; protein phosphatase
                     myosin-binding subunit; myosin binding subunit; protein
                     phosphatase 1, regulatory (inhibitor) subunit 12A"
                     /calculated_mol_wt=111054
     Region          43..>272
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Site            order(49..51,53..54,58,61,70,72,74,78..79,82..84,86..87,
                     91,94,103,105,107,111..112,115..117,119..120,124,127,136)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          72..103
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          105..136
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          138..229
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          231..262
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          658..714
                     /region_name="IPD_MYPT1"
                     /note="inhibitory phosphorylation domain of myosin
                     phosphatase targeting subunit 1(MYPT1); cd21944"
                     /db_xref="CDD:412019"
     Region          <922..994
                     /region_name="PRKG1_interact"
                     /note="cGMP-dependent protein kinase interacting domain;
                     pfam15898"
                     /db_xref="CDD:435003"
     CDS             1..995
                     /gene="PPP1R12A"
                     /gene_synonym="GUBS; M130; MBS; MYPT1"
                     /coded_by="NM_001244990.2:129..3116"
                     /note="isoform c is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS58260.1"
                     /db_xref="GeneID:4659"
                     /db_xref="HGNC:HGNC:7618"
                     /db_xref="MIM:602021"
ORIGIN      
        1 mkmadakqkr neqlkrwigs etdleppvvk rqktkvkfdd gavflaacss gdtdevlkll
       61 hrgadinyan vdgltalhqa ciddnvdmvk flvenganin qpdnegwipl haaascgyld
      121 iaefligqga hvgavnsegd tpldiaeeea meellqnevn rqgvdieaar keeerimlrd
      181 arqwlnsghi ndvrhaksgg talhvaaakg ytevlklliq agydvnikdy dgwtplhaaa
      241 hwgkeeacri lvdnlcdmem vnkvgqtafd vadedilgyl eelqkkqnll hsekrdkksp
      301 liestanmdn nqsqktfknk etliiepekn asriesleqe kvdeeeegkk desscsseed
      361 eeddseseae tdktkplasv tnantsstqa apvavttptv ssgqatptsp ikkfpttatk
      421 ispkeeerkd espatwrlgl rktgsygala eitaskegqk ekdtagvtrs assprlsssl
      481 dnkekekdsk gtrlayvapt iprrlastsd ieekenrdss slrtsssytr rkweddlkkn
      541 ssvnegstyh kscsfgrrqd dlisssvpst tstptvtsaa glqksllsst stttkittgs
      601 ssagtqssts nrlwaedste kekdsvptav tipvaptvvn aaastttltt ttagtvsstt
      661 evrerrrsyl tpvrdeeses qrkarsrqar qsrrstqgvt ltdlqeaekt igrsrstrtr
      721 eqeneekeke ekekqdkekq eekkesetsr edeykqkysr tydetyqryr pvstsssttp
      781 ssslstmsss lyassqlnrp nslvgitsay srgitkener egekreeeke gedksqpksi
      841 rerrrprekr rstgvsfwtq dsdeneqeqq sdteegsnkk etqtdsisry etsstsagdr
      901 ydsllgrsgs ysyleerkpy ssrlekddst dfkkrqerfa drsllemekr erralerris
      961 emeeelkmlp dlkadnqrlk dengalirvi sklsk
//
LOCUS       XP_047284640             656 aa            linear   PRI 20-MAR-2023
DEFINITION  neuroblastoma breakpoint family member 6 isoform X1 [Homo sapiens].
ACCESSION   XP_047284640
VERSION     XP_047284640.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428684.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..656
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..656
                     /product="neuroblastoma breakpoint family member 6 isoform
                     X1"
                     /calculated_mol_wt=73927
     Region          23..>168
                     /region_name="COG1340"
                     /note="Uncharacterized coiled-coil protein, contains
                     DUF342 domain [Function unknown]"
                     /db_xref="CDD:224259"
     Region          203..260
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          348..415
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          422..489
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     CDS             1..656
                     /gene="NBPF6"
                     /coded_by="XM_047428684.1:1608..3578"
                     /db_xref="GeneID:653149"
                     /db_xref="HGNC:HGNC:31988"
                     /db_xref="MIM:613996"
ORIGIN      
        1 mvqqdevpgs tssatnvsmv vsadplsser aemnileinq elrsqlaesn qqfrdlkekf
       61 litqataysl anqlkkykce eykdiidsvl rdelqsmekl aeklrqaeel rqykalvhsq
      121 akeltqlrek lregrdasrw lnkhlktllt pddpdksqgq dlreqlaegh rlaehlvhkl
      181 spendedede deddkdeeve kvqespapre vqkteekevp qdsleecavt csnshnpsns
      241 nqphrstkit fkehevdsal vvesehphde eeealnippe nqndheeeeg kapvpprhhd
      301 ksnsyrhrev sflaldeqkv csaqdvardy snpkwdetsl gflekqsdle evkgqetvap
      361 rlsrgplrvd kheipqesld gccltpsilp dltpsyhpyw stlysfedkq vslalvdkik
      421 kdqeeiedqs ppcprlsqel pevkeqevpe dsvnevyltp svhhdvsdch qpysstlssl
      481 edqlacsald vaspteaacp qgtwsgdlsh hrsevqisqa qlepstlvps clrlqldqgf
      541 hcgnglaqrg lssttcsfsa nadsgnqwpf qelvlepslg mknppqledd alegsasntq
      601 grqvtgrira slvlilktir rrlpfskwrl afrfagphae saeipntaer mqrmig
//
LOCUS       XP_006718701            1309 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA2-interacting transcriptional repressor EMSY isoform X4 [Homo
            sapiens].
ACCESSION   XP_006718701
VERSION     XP_006718701.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006718638.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1309
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1309
                     /product="BRCA2-interacting transcriptional repressor EMSY
                     isoform X4"
                     /calculated_mol_wt=139878
     Region          17..86
                     /region_name="ENT"
                     /note="ENT domain; pfam03735"
                     /db_xref="CDD:427473"
     Region          <937..1108
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     CDS             1..1309
                     /gene="EMSY"
                     /gene_synonym="C11orf30; GL002"
                     /coded_by="XM_006718638.5:151..4080"
                     /db_xref="GeneID:56946"
                     /db_xref="HGNC:HGNC:18071"
                     /db_xref="MIM:608574"
ORIGIN      
        1 mpvvwptlld lsrdeckril rkleleayag visalraqgd ltkekkdllg elskvlsist
       61 erhraevrra vnderlttia hnmsgpnsss ewsiegrrlv plmprlvpqt aftvtanava
      121 naaiqhnasl pvpaetgske vvvcysytst tstptstpvp sgsiatvksp rpaspasnvv
      181 vlpsgstvyv ksvscsdede kprkrrrtns sssspvvlke vpkavvpvsk titvpvsgsp
      241 kmsnimqsia nslpphmspv kitftkpstq ttntttqkvi ivttspsstf vpnilskshn
      301 yaavtklvpt sviasttqkp pvvitasqss lvsnsssgss sstpspipnt vavtavvsst
      361 psvvmstvaq gvstsaikma strlpspksl vsaptqilaq fpkqhqqspk qqlyqvqqqt
      421 qqqvaqpspv shqqqpqqsp lppgikptiq ikqesgvkii tqqvqpskil pkpvtatlpt
      481 ssnspimvvs sngaimttkl vttptgtqat ytrptvspsi grmaatpgaa tyvkttsgsi
      541 itvvpkslat lggkiissni vsgtttkitt ipmtskpnvi vvqkttgkgt tiqglpgknv
      601 vttllnagge ktiqtvptga kpailtatrp itkmivtqpk gigstvqpaa kiiptkivyg
      661 qqgktqvlik pkpvtfqatv vseqtrqlvt etlqqasrva eagnssiqeg keepqnytds
      721 sssstessqs sqdsqpvvhv iasrrqdwse heiametspt iiyqdvsses qsatstikal
      781 lelqqttvke kleskprqpt idlsqmavpi qmtqekrhsp espsiavves elvaeyittv
      841 shrsqpqqps qpqrtllqhv aqsqtatqts vvvksipass pgaithimqq alsshtaftk
      901 hseelgteeg eveemdtldp qtglfyrsal tqsqsakqqk lsqppleqtq lqvktlqcfq
      961 tkqkqtihlq adqlqhklpq mpqlsirhqk ltplqqeqaq pkpdvqhtqh pmvakdrqlp
     1021 tlmaqppqtv vqvlavkttq qlpklqqapn qpkiyvqpqt pqsqmslpas sekqtasqve
     1081 qpiitqgssv tkitfegrqp ptvtkitggs svpkltspvt sispiqasek tavsdilkms
     1141 lmeaqidtnv ehmivdppkk alatsmltge agslpsthmv vagmanstpq qqkcrescss
     1201 pstvgssltt rkidppavpa tgqfmriqnv gqkkaeespa eiiiqaipqy aipchsssnv
     1261 vvepsgllel nnftsqqldd eetameqdid sstedgteps psqssaers
//
LOCUS       XP_011521066             491 aa            linear   PRI 20-MAR-2023
DEFINITION  rab11 family-interacting protein 3 isoform X3 [Homo sapiens].
ACCESSION   XP_011521066
VERSION     XP_011521066.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011522764.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..491
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..491
                     /product="rab11 family-interacting protein 3 isoform X3"
                     /calculated_mol_wt=55890
     Region          <205..477
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          451..491
                     /region_name="RBD-FIP"
                     /note="FIP domain; pfam09457"
                     /db_xref="CDD:401421"
     CDS             1..491
                     /gene="RAB11FIP3"
                     /gene_synonym="CART1; FIP3-Rab11; Rab11-FIP3"
                     /coded_by="XM_011522764.3:357..1832"
                     /db_xref="GeneID:9727"
                     /db_xref="HGNC:HGNC:17224"
                     /db_xref="MIM:608738"
ORIGIN      
        1 mgsestysec etftdedtst lvhpelqpeg dadsaggsav psecldamee pdhgallllp
       61 grphphgqsv itviggeehf edygegseae lspetlcngq lgcsdpaflt pstdplaakl
      121 hsiltdeafe fycsqchkqi nrledlsarl sdlemnsptk rlsskkvary lhqsgaltme
      181 aledpspelm egpeediadk vvflerrvle lekdtaatge qhsrlrqenl qlvhranale
      241 eqlkeqelra cemvleetrr qkellckmer eksieienlq trlqqldeen selrsctpcl
      301 kanierleee kqklldeies ltlrlseeqe nkrrmgdrls herhqfqrdk eatqeliedl
      361 rkqlehlqll kleaeqrrgr sssmglqeyh srareseleq evrrlkqdnr nlkeqneeln
      421 gqiitlsiqg akslfstafs eslaaeissv srdelmeaiq kqeeinfrlq dyidriivai
      481 metnpsilev k
//
LOCUS       XP_011523660             649 aa            linear   PRI 20-MAR-2023
DEFINITION  forkhead box protein N1 isoform X1 [Homo sapiens].
ACCESSION   XP_011523660
VERSION     XP_011523660.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011525358.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..649
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..649
                     /product="forkhead box protein N1 isoform X1"
                     /calculated_mol_wt=68922
     Region          271..367
                     /region_name="FH_FOXN1"
                     /note="Forkhead (FH) domain found in Forkhead box protein
                     N1 (FOXN1); cd20056"
                     /db_xref="CDD:410830"
     Site            order(277,295..296,299,318..319,321..322,325,332,343..345,
                     347)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410830"
     CDS             1..649
                     /gene="FOXN1"
                     /gene_synonym="FKHL20; RONU; TIDAND; TLIND; WHN"
                     /coded_by="XM_011525358.2:111..2060"
                     /db_xref="GeneID:8456"
                     /db_xref="HGNC:HGNC:12765"
                     /db_xref="MIM:600838"
ORIGIN      
        1 mvslpppqsd vtlpgptrle gerqgdlmqa pglpgspapq skhagfscss fvsdgppert
       61 pslpphspri aspgpeqvqg hcpagpgpgp frlspsdkyp gfgfeeaaas spgrflkgsh
      121 apfhpykrpf hedvfpeaet tlalkghsfk tpgpleafee ipvdvaeaea flpgfsaeaw
      181 cnglpypsqe hgpqvlqgse vkvkppvles gagmfcyqpp lqhmycssqp pfhqyspggg
      241 sypipylgss hyqyqrmapq astdghqplf pkpiysysil ifmalknskt gslpvseiyn
      301 fmtehfpyfk tapdgwknsv rhnlslnkcf ekvenksgss srkgclwaln pakidkmqee
      361 lqkwkrkdpi avrksmakpe eldsligdkr eklgspllgc pppglsgsgp irplappagl
      421 spplhslhpa pgpipgknpl qdllmghtps cygqtylhls pglappgppq plfpqpdghl
      481 elraqpgtpq dsplpahtpp shsakllaep spartmhdtl lpdgdlgtdl dainpsltdf
      541 dfqgnlweql kddslaldpl vlvtssptss smpppqppph cfppgpclte tgsgagdlaa
      601 pgsggsgalg dlhlttlysa fmeleptppt apagpsvyls psskpvala
//
LOCUS       XP_047294115             792 aa            linear   PRI 20-MAR-2023
DEFINITION  carnitine O-palmitoyltransferase 1, brain isoform isoform X3 [Homo
            sapiens].
ACCESSION   XP_047294115
VERSION     XP_047294115.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438159.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..792
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..792
                     /product="carnitine O-palmitoyltransferase 1, brain
                     isoform isoform X3"
                     /calculated_mol_wt=89583
     Region          1..47
                     /region_name="CPT_N"
                     /note="Carnitine O-palmitoyltransferase N-terminus;
                     pfam16484"
                     /db_xref="CDD:435366"
     Region          174..742
                     /region_name="Carn_acyltransf"
                     /note="Choline/Carnitine o-acyltransferase; pfam00755"
                     /db_xref="CDD:425853"
     CDS             1..792
                     /gene="CPT1C"
                     /gene_synonym="CATL1; CPT1-B; CPT1P; CPTI-B; CPTIC; SPG73"
                     /coded_by="XM_047438159.1:241..2619"
                     /db_xref="GeneID:126129"
                     /db_xref="HGNC:HGNC:18540"
                     /db_xref="MIM:608846"
ORIGIN      
        1 maeahqavgf rpsltsdgae velsapvlqe iylsglrswk rhlsrfwndf ltgvfpaspl
       61 swlflfsaiq lawflqldps lglmekikel lpdwggqhhg lrgvlaaalf asclwgalif
      121 tlhvalrlll syhgwlleph gamssptktw lalvrifsgr hpmlfsyqrs lprqpvpsvq
      181 dtvrkylesv rpilsdedfd wtavlaqefl rlqasllqwy lrlkswwasn yvsdwweefv
      241 ylrsrnplmv nsnyymmaar agnavhalll yrhrlnrqei pptllmgmrp lcsaqyekif
      301 nttripgvqk dyirhlhdsq hvavfhrgrf frmgthsrns llspraleqq fqrilddpsp
      361 acpheehlaa ltaaprgtwa qvrtslktqa aealeavega affvsldaep agltredpaa
      421 sldayahall agrghdrwfd ksftlivfsn gklglsvehs wadcpisghm weftlatecf
      481 qlgystdghc kghpdptlpq pqrlqwdlpd qihssislal rgakilsenv dchvvpfslf
      541 gksfirrchl ssdsfiqial qlahfrdrgq fcltyesamt rlflegrtet vrsctreacn
      601 fvramedkek tdpqclalfr vavdkhqall kaamsgqgvd rhlfalyivs rflhlqspfl
      661 tqvhseqwql stsqipvqqm hlfdvhnypd yvssgggfgp addhgygvsy ifmgdgmitf
      721 hisskksstk tdshrlgqhi edalldvasl fqagqhfkrr frgsgkensr hrcgflsrqt
      781 gaskasmtst df
//
LOCUS       XP_047294410             476 aa            linear   PRI 20-MAR-2023
DEFINITION  caspase recruitment domain-containing protein 8 isoform X5 [Homo
            sapiens].
ACCESSION   XP_047294410
VERSION     XP_047294410.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438454.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..476
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..476
                     /product="caspase recruitment domain-containing protein 8
                     isoform X5"
                     /calculated_mol_wt=53363
     Region          184..436
                     /region_name="FIIND"
                     /note="Function to find; pfam13553"
                     /db_xref="CDD:433302"
     CDS             1..476
                     /gene="CARD8"
                     /gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
                     /coded_by="XM_047438454.1:1018..2448"
                     /db_xref="GeneID:22900"
                     /db_xref="HGNC:HGNC:17057"
                     /db_xref="MIM:609051"
ORIGIN      
        1 mekkecpeks ssseeelprr dsgssrnida sklirlqgsr kllvdnsire lqytktgiff
       61 qaeacvtndt vyrelpcvse tlcdishffq eddeteaepl lfravpecql sggdipsvse
      121 eqessegqds gdicseenqi vssyaskvcf eieedyknrq flgpegnvdv elidkstnry
      181 svwfptagwy lwsatglgfl vrdevtvtia fgswsqhlal dlqhheqwlv ggplfdvtae
      241 peeavaeihl phfislqage vdvswflvah fknegmvleh parvepfyav lespsfslmg
      301 illriasgtr lsipitsntl iyyhphpedi kfhlylvpsd alltkaidde edrfhgvrlq
      361 tsppmeplnf gssyivsnsa nlkvmpkelk lsyrspgeiq hfskfyagqm kepiqleite
      421 krhgtlvwdt evkpvdlqlv aasapppfsg vrmwpgccpi lprtgctclc lnpwlp
//
LOCUS       XP_047301540            1172 aa            linear   PRI 20-MAR-2023
DEFINITION  son of sevenless homolog 1 isoform X4 [Homo sapiens].
ACCESSION   XP_047301540
VERSION     XP_047301540.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445584.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1172
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1172
                     /product="son of sevenless homolog 1 isoform X4"
                     /calculated_mol_wt=134801
     Region          63..169
                     /region_name="Histone"
                     /note="Core histone H2A/H2B/H3/H4; pfam00125"
                     /db_xref="CDD:425478"
     Region          204..389
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; smart00325"
                     /db_xref="CDD:214619"
     Site            order(207,211,316,340..341,344..345,347..348,351..352,
                     355..356,359,384,388)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          439..545
                     /region_name="PH_SOS"
                     /note="Son of Sevenless (SOS) Pleckstrin homology (PH)
                     domain; cd01261"
                     /db_xref="CDD:269963"
     Region          597..741
                     /region_name="RasGEFN"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     GTPases; N-terminal motif; smart00229"
                     /db_xref="CDD:214571"
     Site            order(616,683,687..688,691,694..695,728..729,732,739)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:100121"
     Region          776..1015
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases. Small GTP-binding proteins of the Ras
                     superfamily function as molecular switches in fundamental
                     events such as signal transduction, cytoskeleton dynamics
                     and intracellular trafficking; cd00155"
                     /db_xref="CDD:238087"
     Site            order(809..811,821..822,824..826,828..829,832..833,836,
                     869,872..873,875..877,879..882,884..885,905,911..913,916,
                     929..931,934..936,938..940,942..945,963,967,1007,
                     1010..1011)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     Region          <1017..>1100
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     CDS             1..1172
                     /gene="SOS1"
                     /gene_synonym="GF1; GGF1; GINGF; HGF; NS4; SOS-1"
                     /coded_by="XM_047445584.1:630..4148"
                     /db_xref="GeneID:6654"
                     /db_xref="HGNC:HGNC:11187"
                     /db_xref="MIM:182530"
ORIGIN      
        1 mqaqqlpyef fseenapkwr gllvpalkkv qgqvhptles nddalqyvee lilqllnmlc
       61 qaqprsasdv eervqksfph pidkwaiada qsaiekrkrr nplslpveki hpllkevlgy
      121 kidhqvsvyi vavleyisad ilklvgnyvr nirhyeitkq dikvamcadk vlmdmfhqdv
      181 edinilsltd eepstsgeqt yydlvkafma eirqyireln liikvfrepf vsnsklfsan
      241 dvenifsriv dihelsvkll ghiedtvemt degsphplvg scfedlaeel afdpyesyar
      301 dilrpgfhdr flsqlskpga alylqsigeg fkeavqyvlp rlllapvyhc lhyfellkql
      361 eeksedqedk eclkqaital lnvqsgmeki cskslakrrl sesacrfysq qmkgkqlaik
      421 kmneiqknid gwegkdigqc cnefimegtl trvgakherh iflfdglmic cksnhgqprl
      481 pgasnaeyrl kekffmrkvq indkddtney khafeiilkd ensvifsaks aeeknnwmaa
      541 lislqyrstl ermldvtmlq eekeeqmrlp sadvyrfaep dseeniifee nmqpkagipi
      601 ikagtvikli erltyhmyad pnfvrtfltt yrsfckpqel lsliierfei pepepteadr
      661 iaiengdqpl saelkrfrke yiqpvqlrvl nvcrhwvehh fydferdayl lqrmeefigt
      721 vrgkamkkwv esitkiiqrk kiardngpgh nitfqssppt vewhisrpgh ietfdlltlh
      781 pieiarqltl lesdlyravq pselvgsvwt kedkeinspn llkmirhttn ltlwfekciv
      841 etenleerva vvsriieilq vfqelnnfng vlevvsamns spvyrldhtf eqipsrqkki
      901 leeahelsed hykkylaklr sinppcvpff giyltnilkt eegnpevlkr hgkelinfsk
      961 rrkvaeitge iqqyqnqpyc lrvesdikrf fenlnpmgns mekeftdylf nksleieprn
     1021 pkplprfpkk ysyplkspgv rpsnprpgtm rhptplqqep rkisysripe setestasap
     1081 nsprtpltpp pasgassttd vcsvfdsdhs spfhsrsasv ssisltkgtd evpvpppvpp
     1141 rrrpesapae sspskniflk itqrtvrkgc gt
//
LOCUS       XP_047305569              75 aa            linear   PRI 20-MAR-2023
DEFINITION  ADP-ribosylation factor-like protein 9 isoform X2 [Homo sapiens].
ACCESSION   XP_047305569
VERSION     XP_047305569.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449613.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..75
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..75
                     /product="ADP-ribosylation factor-like protein 9 isoform
                     X2"
                     /calculated_mol_wt=8288
     Region          <16..73
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            48..50
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206648"
     CDS             1..75
                     /gene="ARL9"
                     /coded_by="XM_047449613.1:417..644"
                     /db_xref="GeneID:132946"
                     /db_xref="HGNC:HGNC:23592"
                     /db_xref="MIM:612405"
ORIGIN      
        1 mqfastlkta rwsswrdlea ayhitdihea lalsevgndr kmflfgtylt kngseipstm
       61 qdakdliaql aadvq
//
LOCUS       XP_047272199             389 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 29 isoform X8 [Homo sapiens].
ACCESSION   XP_047272199
VERSION     XP_047272199.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416243.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..389
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..389
                     /product="tetratricopeptide repeat protein 29 isoform X8"
                     /calculated_mol_wt=44927
     Region          208..252
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(209,212..213,216..217,219,261,264..265,268..269,
                     271..272,301,304..305,308..309,312)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          258..323
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     Region          259..289
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          300..324
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..389
                     /gene="TTC29"
                     /gene_synonym="NYD-SP14; SPGF42; TBPP2A"
                     /coded_by="XM_047416243.1:233..1402"
                     /db_xref="GeneID:83894"
                     /db_xref="HGNC:HGNC:29936"
                     /db_xref="MIM:618735"
ORIGIN      
        1 mipmftvtle dsgtlwkslh sssesemttl pplpmtrpkl talarqklpc ssrkiprsql
       61 ikekddidhy levnfkglsk eevaayrnsy kknicvdmlr dgyhksftel falmerwdal
      121 reaarvrslf wlqkpleeqp dkldylyhyl traedaerke sfedvhnnly alacyfnnse
      181 dkwvrnhfye rcfkiaqlik idcgkkeaea hmhmgllyee dgqlleaaeh yeafhqltqg
      241 riwkdetgrs lnllacesll rtyrllsdkm lenkeykqai kilikaseia kegsdkkmea
      301 easyylglah laaeeyetal tvldtyckis tdldddlslg rgyeaiakvl qrdmslssnn
      361 shllallliw nilasfpgfe flvdsvkak
//
LOCUS       XP_047272765             360 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 161B isoform X5 [Homo sapiens].
ACCESSION   XP_047272765
VERSION     XP_047272765.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416809.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..360
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..360
                     /product="transmembrane protein 161B isoform X5"
                     /calculated_mol_wt=40627
     Region          <1..358
                     /region_name="Tmemb_161AB"
                     /note="Predicted transmembrane protein 161AB; pfam10268"
                     /db_xref="CDD:402058"
     CDS             1..360
                     /gene="TMEM161B"
                     /gene_synonym="FLB3342; PRO1313"
                     /coded_by="XM_047416809.1:400..1482"
                     /db_xref="GeneID:153396"
                     /db_xref="HGNC:HGNC:28483"
ORIGIN      
        1 mkptqemnis lvwcllvlsf aikvlfsltt hyfkvedgge rsvcvtfgff ffvkamavli
       61 vtenylefgl etgftnfsds amqflekqgl esqspvsklt fkfflaifcs figafltfpg
      121 lrlaqmhlda lnlatekitq tllhinflap lfmvllwvkp itkdyimnpp lgkesiplmt
      181 eatfdtlrlw liillcalrl ammrshlqay lnlaqkcvdq mkkeagrist velqkmvarv
      241 fyylcvialq yvaplvmllh ttlllktlgn hswgiypesi stlpvdnsll snsvyselps
      301 aegkmkvtvt qitvalsslk niftpllfrg llsfltwwia aclfstslfg lfyhqyltva
//
LOCUS       XP_011514038             227 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM3C isoform X1 [Homo sapiens].
ACCESSION   XP_011514038
VERSION     XP_011514038.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011515736.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..227
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..227
                     /product="protein FAM3C isoform X1"
                     /calculated_mol_wt=24549
     Region          53..223
                     /region_name="ILEI_FAM3C"
                     /note="Interleukin-like EMT inducer; cd13940"
                     /db_xref="CDD:260114"
     CDS             1..227
                     /gene="FAM3C"
                     /gene_synonym="GS3786; ILEI"
                     /coded_by="XM_011515736.3:249..932"
                     /db_xref="GeneID:10447"
                     /db_xref="HGNC:HGNC:18664"
                     /db_xref="MIM:608618"
ORIGIN      
        1 mrvagaaklv vavavflltf yvisqvfeik mdaslgnlfa rsaldtaars tkpprykcgi
       61 skacpekhfa fkmasgaanv vgpkicledn vlmsgvknnv grginvalan gktgevldtk
      121 yfdmwggdva pfieflkaiq dgtivlmgty ddgatklnde arrliadlgs tsitnlgfrd
      181 nwvfcggkgi ktkspfeqhi knnkdtnkye gwpevvemeg cipqkqd
//
LOCUS       XP_047298261             231 aa            linear   PRI 20-MAR-2023
DEFINITION  tumor necrosis factor receptor superfamily member 27 isoform X10
            [Homo sapiens].
ACCESSION   XP_047298261
VERSION     XP_047298261.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442305.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..231
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..231
                     /product="tumor necrosis factor receptor superfamily
                     member 27 isoform X10"
                     /calculated_mol_wt=25469
     Region          3..118
                     /region_name="TNFRSF27"
                     /note="Tumor necrosis factor receptor superfamily member
                     27 (TNFRSF27), also known as ectodysplasin A2 receptor
                     (EDA2R) or X-linked ectodermal dysplasia receptor (XEDAR);
                     cd15838"
                     /db_xref="CDD:276934"
     Region          3..41
                     /region_name="CRD1"
                     /note="CRD1 [structural motif]"
                     /db_xref="CDD:276934"
     Region          44..83
                     /region_name="CRD2"
                     /note="CRD2 [structural motif]"
                     /db_xref="CDD:276934"
     Region          86..118
                     /region_name="CRD3"
                     /note="CRD3 [structural motif]"
                     /db_xref="CDD:276934"
     CDS             1..231
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /coded_by="XM_047442305.1:80..775"
                     /db_xref="GeneID:60401"
                     /db_xref="HGNC:HGNC:17756"
                     /db_xref="MIM:300276"
ORIGIN      
        1 mdcqeneywd qwgrcvtcqr cgpgqelskd cgygeggday ctacpprryk sswghhrcqs
       61 citcavinrv qkvnctatsn avcgdclprf yrktrigglq dqecipctkq tptsevqcaf
      121 qlslveadtp tvppqeatlv alvssllvvf tlaflglffl yckqffnrhc qrggllqfea
      181 dktakeeslf pvppsketsa esqvswapgs laqlfsldsv pipqqqqgpe m
//
LOCUS       XP_054190276             705 aa            linear   PRI 20-MAR-2023
DEFINITION  ataxin-7-like protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054190276
VERSION     XP_054190276.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334301.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..705
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..705
                     /product="ataxin-7-like protein 2 isoform X3"
                     /calculated_mol_wt=75133
     CDS             1..705
                     /gene="ATXN7L2"
                     /coded_by="XM_054334301.1:1474..3591"
                     /db_xref="GeneID:127002"
                     /db_xref="HGNC:HGNC:28713"
ORIGIN      
        1 mtlikedmsi fghcpahddf ylvvcnhcsq vvkpqafqkh cerrhgplsk lygrappppp
       61 apassqkchv vngqgpacra pgstktssre kgqgsrsrgh qppektqkdn lclfvpvvnl
      121 ekmsslpkpd ghgirvapps aflsqpgglt kdspgkppma ppskeppgre nieiipsegs
      181 shwaegsppe kepsgtrlpp kthrkmarke cdlnrqcgvi npetkkictr lltckihsvh
      241 qrrevqgrak dfdvlvaelk ansrkgespk ekspgrkeqv lerpsqelps svqvvaavaa
      301 psstfsvrak qtypycalpr srasseseld degpcggdgd pglfpfpmpr ggtqassees
      361 eeegtsddlh pppdchyatr pprpqafctf gsrlvspgcy vfsrrldrfc salssmlerh
      421 lsthmwkkip paaeppahlv nsplsaplsp sstgtcprlp gptlrpacpa smpptkdnlv
      481 psypagspsv aaacsqaecm ggsqaitspl pantpspsfs klppskasks skgkdgveve
      541 apsrkrklsp gpttlkrtci leptgkgkps gcrglsaktk talsmglngt mgprvkragp
      601 ldcrgsphql ptpvkasqle nrgaaghpak alptnclsee evakkrknla tycrpvkakh
      661 cqagapadva csvrrkkpgp alafeekcst lkvlelplfp egkgv
//
LOCUS       XP_054194957            1341 aa            linear   PRI 20-MAR-2023
DEFINITION  espin isoform X1 [Homo sapiens].
ACCESSION   XP_054194957
VERSION     XP_054194957.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338982.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1341
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1341
                     /product="espin isoform X1"
                     /calculated_mol_wt=145430
     CDS             1..1341
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /coded_by="XM_054338982.1:181..4206"
                     /db_xref="GeneID:83715"
                     /db_xref="HGNC:HGNC:13281"
                     /db_xref="MIM:606351"
ORIGIN      
        1 maleqalqaa rqgeldvlrs lhaagllgps lrdpldalpv hhaaragklh clrflveeaa
       61 lpaaararng atpahdasat ghlaclqwll sqggcrvqdk dnsgatvlhl aarfghpevv
      121 nwllhhgggd ptaatdmgal pihyaaakgd fpslrllveh ypegvnaqtk ngatplylac
      181 qeghlevtqy lvqecgadph arahdgmtpl haaaqmghsp vivwlvsctd vslseqdkdg
      241 atamhfaasr ghtkvlswll lhggeisadl wggtplhdaa engeleccqi lvvngaeldv
      301 rdrdgytaad lsdfnghshc trylrtvenl svehrvlsrd psaeleakqp dsgmsspntt
      361 vsvqplnfdl ssptstlsny dscssshssi kgqhppcgls saraadiqsy mdmlnpelgl
      421 prgtigkptp pppppsfppp ppppgtqlpp pppgypapkp pvgpqaadiy mqtknklrhv
      481 etealkkels scdghdglrr qdssrkpraf skqpstgdyy rqlgrcpget laarpgmahs
      541 eeaallpgnh vpngcaadpk asrelppppp ppppplpeaa sspppapplp lesagpgcgq
      601 rrsssstgkv rvlrhrkstk sfnmmsptgd nsellaeika gkslkptpqs kglttvfsgi
      661 gqpafqpdsp lpsvspalsp vrsptppaag fqpllngslv pvppttpapg vqldvealip
      721 thdeqgrpip ewkrqvmvrk mqlkmqeeee qrrkltaass ccypregwry srehnailgp
      781 fgelmteadi lrieqqienl qvlhkaqkle arleqlelel eqllpisaal saprftvdpr
      841 rmhgraaslp awcskistll knmatllaal ggrpahlael ltadtgqpla plpdapwlpg
      901 plclgrshsl swcreavare ilecgvsvqh lratyelrar gaaparcprr kppqsagapg
      961 repileedyv aarsgqpsaa aahgplvdwe plgtlgppev qdrqaalpep eqlarrpplc
     1021 tklrgvqdyl dlrkerivyl flehwrrwac rgpgrraqar lrgllprvaa agagpgleat
     1081 daprlpasns eahspderlr qllrqrqavg kllghwrsll rrvpaspgla hglywpqhfl
     1141 ppldggapph ydsltldlfm lgyfqllemg lsreerkfrh llcyemfdrl gshpwerirl
     1201 fhrvvleeve agrrgwsdgf edlrhrffgn gleaepapee qakekeeegk eqerteeaap
     1261 fqtgdppegq pealapapqp ppppppaapp ptsdspgsea paedplelvs emgefsnedi
     1321 cryidrsfsf wkekeaelfd i
//
LOCUS       XP_054221852             711 aa            linear   PRI 20-MAR-2023
DEFINITION  WASH complex subunit 2A isoform X26 [Homo sapiens].
ACCESSION   XP_054221852
VERSION     XP_054221852.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365877.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..711
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..711
                     /product="WASH complex subunit 2A isoform X26"
                     /calculated_mol_wt=77800
     CDS             1..711
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /coded_by="XM_054365877.1:175..2310"
                     /db_xref="GeneID:387680"
                     /db_xref="HGNC:HGNC:23416"
ORIGIN      
        1 mmkmkriifl gvqllrsrhc vyklrekrkq kppsspkrkh lpccsavmrs qkktqrvsll
       61 feddvdsggs lfgspptsvp patkkketvs eappllfsde eekeaqlgvk svdkkvesak
      121 eslkfgrtdv aesekegllt rsaqetvkhs dlfsssspwd kgtkprtktv lslfdeeedk
      181 medqniiqap qkevgkgrdp dahpkstgvf qdeellfshk lqkdndpdvd lfagtkktkl
      241 lepsvgslfg ddedddlfss aksqplvqek krvvkkdhsv dsfknqkhpe siqgskekgi
      301 wkpetpqdss glapfktkep strigkiqan lainpaallp taasqisevk pvlpelafps
      361 sehrrshgle svpvlpgsge agvsfdlpaq adtlhsanks rvkmrgkrrp qtraarrlaa
      421 qessetedms vprgpiaqwa dgaispnghr pqlraasged steealaaaa apweggpvpg
      481 vdrspfaksl ghsrgeadlf dsgdifstgt gsqsvertkp kakiaenpan ppvggkaksp
      541 mfpalgeass dddlfqsakp kpakktnpfp llededdlft dqkvkknetk snsqqdvilt
      601 tqdifeddif ateaikpsqk trekektles nlfddnidif adltvkpkek skkkveaksi
      661 fdddmddifs sgiqakttkp ksrsaqaape prfehkvsni fddplnafgg q
//
LOCUS       XP_054226693            1549 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-binding cassette sub-family C member 9 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054226693
VERSION     XP_054226693.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370718.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1549
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1549
                     /product="ATP-binding cassette sub-family C member 9
                     isoform X1"
                     /calculated_mol_wt=174294
     CDS             1..1549
                     /gene="ABCC9"
                     /gene_synonym="ABC37; ATFB12; CANTU; CMD1O; IDMYS; SUR2"
                     /coded_by="XM_054370718.1:248..4897"
                     /db_xref="GeneID:10060"
                     /db_xref="HGNC:HGNC:60"
                     /db_xref="MIM:601439"
ORIGIN      
        1 mslsfcgnni ssynindgvl qnscfvdaln lvphvfllfi tfpilfigwg sqsskvqihh
       61 ntwlhfpghn lrwiltfall fvhvceiaeg ivsdsrresr hlhlfmpavm gfvatttsiv
      121 yyhnietsnf pklllalfly wvmafitkti klvkycqsgl disnlrfcit gmmvilngll
      181 maveinvirv rryvffmnpq kvkppedlqd lgvrflqpfv nllskatyww mntliisahk
      241 kpidlkaigk lpiamravtn yvclkdayee qkkkvadhpn rtpsiwlamy rafgrpills
      301 stfryladll gfagplcisg ivqrvnetqn gtnnttgise tlsskeflen ayvlavllfl
      361 alilqrtflq asyyvtietg inlrgallam iynkilrlst snlsmgemtl gqinnlvaie
      421 tnqlmwflfl cpnlwampvq iimgvillyn llgssalvga avivllapiq yfiatklaea
      481 qkstldyste rlkktneilk gikllklyaw ehifcksvee trmkelsslk tfalytslsi
      541 fmnaaipiaa vlatfvthay asgnnlkpae afaslslfhi lvtplfllst vvrfavkaii
      601 svqklnefll sdeigddswr tgesslpfes ckkhtgvqpk tinrkqpgry hldsyeqstr
      661 rlrpaetedi aikvtngyfs wgsglatlsn idiriptgql tmivgqvgcg ksslllailg
      721 emqtlegkvh wsnvneseps featrsrnry svayaaqkpw llnatveeni tfgspfnkqr
      781 ykavtdacsl qpdidllpfg dqteigergi nlsggqrqri cvaralyqnt nivflddpfs
      841 aldihlsdhl mqegilkflq ddkrtlvlvt hklqylthad wiiamkdgsv lregtlkdiq
      901 tkdvelyehw ktlmnrqdqe lekdmeadqt tlerktlrra mysreakaqm ededeeeeee
      961 ededdnmstv mrlrtkmpwk tcwryltsgg ffllilmifs kllkhsviva idywlatwts
     1021 eysinntgka dqtyyvagfs ilcgagiflc lvtsltvewm gltaaknlhh nllnkiilgp
     1081 irffdttplg lilnrfsadt niidqhippt lesltrstll clsaigmisy atpvflvall
     1141 plgvafyfiq kyfrvaskdl qelddstqlp llchfsetae glttirafrh etrfkqrmle
     1201 ltdtnniayl flsaanrwle vrtdylgaci vltasiasis gssnsglvgl gllyaltitn
     1261 ylnwvvrnla dlevqmgavk kvnsfltmes enyegtmdps qvpehwpqeg eikihdlcvr
     1321 yennlkpvlk hvkayikpgq kvgicgrtgs gksslslaff rmvdifdgki vidgidiskl
     1381 plhtlrsrls iilqdpilfs gsirfnldpe ckctddrlwe aleiaqlknm vkslpgglda
     1441 vvteggenfs vgqrqlfcla rafvrkssil imdeatasid matenilqkv vmtafadrtv
     1501 vtiahrvhti ltadlvivmk rgnileydtp esllaqengv fasfvradm
//
LOCUS       XP_054227470            1138 aa            linear   PRI 20-MAR-2023
DEFINITION  ELKS/Rab6-interacting/CAST family member 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054227470
VERSION     XP_054227470.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371495.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1138
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1138
                     /product="ELKS/Rab6-interacting/CAST family member 1
                     isoform X2"
                     /calculated_mol_wt=130664
     CDS             1..1138
                     /gene="ERC1"
                     /gene_synonym="Cast2; ELKS; ERC-1; RAB6IP2"
                     /coded_by="XM_054371495.1:242..3658"
                     /db_xref="GeneID:23085"
                     /db_xref="HGNC:HGNC:17072"
                     /db_xref="MIM:607127"
ORIGIN      
        1 mygsarsvgk vepssqspgr sprlprsprl ghrrtnstgg ssgssvgggs gktlsmeniq
       61 slnaayatsg pmylsdhenv gsetpkstmt lgrsggrlpy gvrmtamgss pniassgvas
      121 dtiafgehhl ppvsmastvp hslrqardnt imdlqtqlke vlrendllrk dvevkeskls
      181 ssmnsiktfw spelkkeral rkdeaskiti wkeqyrvvqe enqhmqmtiq alqdelriqr
      241 dlnqlfqqds ssrtgepcva elteenfqrl haeherqake lfllrktlee melrietqkq
      301 tlnardesik kllemlqskg lsakateedh ertrrlaeae mhvhhlesll eqkekensml
      361 reemhrrfen apdsaktkal qtviemkdsk issmerglrd leeeiqmlks ngalsteere
      421 eemkqmevyr shskfmknkv eqlkeelssk eaqweelkkk aaglqaeigq vkqelsrkdt
      481 ellalqtkle tltnqfsdsk qhievlkesl takeqraail qtevdalrlr leeketmlnk
      541 ktkqiqdmae ekgtqageih dlkdmldvke rkvnvlqkki enlqeqlrdk ekqmsslker
      601 vkslqadttn tdtalttlee alaekertie rlkeqrdrde rekqeeidny kkdlkdlkek
      661 vsllqgdlse keaslldlke hasslassgl kkdsrlktle ialeqkkeec lkmesqlkka
      721 heaalearas pemsdriqhl ereitrykde sskaqaevdr lleilkeven ekndkdkkia
      781 elesltsrqv kdqnkkvanl khkeqvekkk saqmleearr rednlndssq qlqdslrkkd
      841 drieeleeal resvqitaer emvlaqeesa rtnaekqllr eilhetsyln fkwfkveell
      901 mamekvkqel esmkaklsst qqslaeketh ltnlraerrk hleevlemkq eallaaisek
      961 daniallels sskkktqeev aalkrekdrl vqqlkqqtqn rmklmadnye ddhfksshsn
     1021 qtnhkpspdq iiqplleldq nrsklklyig hlttlchdrd plilrgltpp asynldddqa
     1081 awenelqkmt rgqlqdelek gerdnaelqe fanailqqia dhcpdileqv vnaleess
//
LOCUS       XP_054229972             404 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-dependent kinase 8 isoform X1 [Homo sapiens].
ACCESSION   XP_054229972
VERSION     XP_054229972.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373997.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 46% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..404
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..404
                     /product="cyclin-dependent kinase 8 isoform X1"
                     /calculated_mol_wt=46217
     CDS             1..404
                     /gene="CDK8"
                     /gene_synonym="IDDHBA; K35"
                     /coded_by="XM_054373997.1:744..1958"
                     /db_xref="GeneID:1024"
                     /db_xref="HGNC:HGNC:1779"
                     /db_xref="MIM:603184"
ORIGIN      
        1 msacreiall relkhpnvis lqkvflshad rkvwllfdya ehdlwhiikf hraskankkp
       61 vqlprgmvks llyqildgih ylhanwvlhr dlkpanilvm gegpergrvk iadmgfarlf
      121 nsplkpladl dpvvvtfwyr apelllgarh ytkaidiwai gcifaellts epifhcrqed
      181 iktsnpyhhd qldrifnvmg fpadkdwedi kkmpehstlm kdfrrntytn cslikymekh
      241 kvkpdskafh llqklltmdp ikritseqam qdpyfledpl ptsdvfagcq ipypkreflt
      301 eeepddkgdk knqqqqqgnn htngtghpgn qdsshtqgpp lkkvrvvppt ttsgglimts
      361 dyqrsnphaa ypnpgpstsq pqssmgysat sqqppqyshq thry
//
LOCUS       XP_054234323             181 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and SCAN domain-containing protein 2 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054234323
VERSION     XP_054234323.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378348.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..181
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..181
                     /product="zinc finger and SCAN domain-containing protein 2
                     isoform X3"
                     /calculated_mol_wt=20089
     CDS             1..181
                     /gene="ZSCAN2"
                     /gene_synonym="ZFP29; ZNF854"
                     /coded_by="XM_054378348.1:236..781"
                     /db_xref="GeneID:54993"
                     /db_xref="HGNC:HGNC:20994"
ORIGIN      
        1 mmaadiprvt tplsslvqvp qeedrqeeev ttmileddsw vqeavlqedg pesepfpqsa
       61 gkggpqeevt rgpqgalgrl relcrrwlrp evhtkeqmlt mlpkeiqawl qehrpessee
      121 aaalvedltq tlqdsgsqrv hqpfsvltvc kvssrsarra lelhlnsvav faslpvevts
      181 l
//
LOCUS       XP_054235471            1080 aa            linear   PRI 20-MAR-2023
DEFINITION  adenylate cyclase type 7 isoform X2 [Homo sapiens].
ACCESSION   XP_054235471
VERSION     XP_054235471.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379496.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1080
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1080
                     /product="adenylate cyclase type 7 isoform X2"
                     /calculated_mol_wt=120178
     CDS             1..1080
                     /gene="ADCY7"
                     /gene_synonym="AC7"
                     /coded_by="XM_054379496.1:389..3631"
                     /db_xref="GeneID:113"
                     /db_xref="HGNC:HGNC:238"
                     /db_xref="MIM:600385"
ORIGIN      
        1 mpakgryfln egeegpdqda lyekyqltsq hgpllltlll vaatacvali iiafsqgdps
       61 rhqailgmaf lvlavfaals vlmyvecllr rwlralallt waclvalgyv lvfdawtkaa
      121 caweqvpffl fivfvvytll pfsmrgavav gavstashll vlgslmggft tpsvrvglql
      181 lanaviflcg nltgafhkhq mqdasrdlft ytvkciqirr klriekrqqe nlllsvlpah
      241 ismgmklaii erlkehgdrr cmpdnnfhsl yvkrhqnvsi lyadivgftq lasdcspkel
      301 vvvlnelfgk fdqiakanec mrikilgdcy ycvsglpvsl ptharncvkm gldmcqaikq
      361 vreatgvdin mrvgihsgnv lcgviglrkw qydvwshdvs lanrmeaagv pgrvhiteat
      421 lkhldkayev edghgqqrdp ylkemnirty lvidprsqqp pppsqhlprp kgdaalkmra
      481 svrmtryles wgaarpfahl nhresvssge thvpngrrpk svpqrhrrtp drsmspkgrs
      541 eddsyddeml saieglsstr pccsksddfy tfgsiflekg fereyrlapi prarhdfaca
      601 slifvcillv hvllmprtaa lgvsfglvac vlglvlglcf atkfsrccpa rgtlctiser
      661 vetqpllrlt lavltigsll tvaiinlplm pfqvpelpvg netgllaass ktralceplp
      721 yytcscvlgf iacsvflrms lepkvvlltv alvaylvlfn lspcwqwdcc gqglgnltkp
      781 ngttsgtpsc swkdlktmtn fylvlfyitl ltlsrqidyy crldclwkkk fkkeheefet
      841 menvnrllle nvlpahvaah figdklnedw yhqsydcvcv mfasvpdfkv fytecdvnke
      901 gleclrllne iiadfdelll kpkfsgveki ktigstymaa aglsvasghe nqelerqhah
      961 igvmvefsia lmskldginr hsfnsfrlrv ginhgpviag vigarkpqyd iwgntvnvas
     1021 rmestgelgk iqvteetcti lqglgyscec rglinvkgkg elrtyfvctd takfqglgln
//
LOCUS       XP_054236011             325 aa            linear   PRI 20-MAR-2023
DEFINITION  copine-7 isoform X13 [Homo sapiens].
ACCESSION   XP_054236011
VERSION     XP_054236011.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380036.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..325
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..325
                     /product="copine-7 isoform X13"
                     /calculated_mol_wt=36636
     CDS             1..325
                     /gene="CPNE7"
                     /coded_by="XM_054380036.1:141..1118"
                     /db_xref="GeneID:27132"
                     /db_xref="HGNC:HGNC:2320"
                     /db_xref="MIM:605689"
ORIGIN      
        1 msagsergaa atpgglpapc askvelrlsc rhlldrdplt ksdpsvallq qaqgqwvqvh
       61 lqvgrtevvr sslhpvfskv ftvdyyfeev qrlrfevydt hgpsgfscqe ddflggmect
      121 lgqivaqkkv trplllkfgr nagkstitvi aedisgnngy velsfrarkl ddkdlfsksd
      181 pflelyrvnd dqglqlvyrt evvknnlnpv weafkvslss lcsceetrpl kclvwdydsr
      241 gkhdfigefs ttfeemqkaf eegqaqwdcv npkykqkrrs yknsgvvvla dlkfhrvysf
      301 ldyimggcqi hfttkrerge tgvsv
//
LOCUS       XP_054236477             570 aa            linear   PRI 20-MAR-2023
DEFINITION  protein arginine N-methyltransferase 7 isoform X26 [Homo sapiens].
ACCESSION   XP_054236477
VERSION     XP_054236477.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380502.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..570
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..570
                     /product="protein arginine N-methyltransferase 7 isoform
                     X26"
                     /calculated_mol_wt=64107
     CDS             1..570
                     /gene="PRMT7"
                     /gene_synonym="SBIDDS"
                     /coded_by="XM_054380502.1:300..2012"
                     /db_xref="GeneID:54496"
                     /db_xref="HGNC:HGNC:25557"
                     /db_xref="MIM:610087"
ORIGIN      
        1 mkifcsranp ttgsvewlee dehydyhqei arssyadmlh dkdrnvkyyq giraavsrvk
       61 drgqkalvld igtgtgllsm mavtagadfc yaievfkpma daavkivekn gfsdkikvin
      121 khstevtvgp egdmpcrani lvtelfdtel igegalpsye hahrhlveen ceavphratv
      181 yaqlvesgrm wswnklfpih vqtslgeqvi vppvdvescp gapsvcdiql nqvspadftv
      241 lsdvlpmfsi dfskqvsssa achsrrfepl tsgraqvvls wwdiemdpeg kikctmapfw
      301 ahsdpeemqw rdhwmqcvyf lpqeepvvqg salylvahhd dycvwyslqr tspeknervr
      361 qmrpvcdcqa hllwnrprfg eindqdrtdr yvqalrtvlk pdsvclcvsd gsllsvlahh
      421 lgveqvftve ssaashkllr kifkanhled kiniiekrpe lltnedlqgr kvslllgepf
      481 fttsllpwhn lyfwcagnsk mcllfllprf pvswragvdg aapssqdlwr irspcgdceg
      541 fdvhimddmi kppgpllfaa cpglqgeqgs
//
LOCUS       XP_054170064            1049 aa            linear   PRI 20-MAR-2023
DEFINITION  polyamine-modulated factor 1-binding protein 1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054170064
VERSION     XP_054170064.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314089.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1049
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1049
                     /product="polyamine-modulated factor 1-binding protein 1
                     isoform X3"
                     /calculated_mol_wt=122137
     CDS             1..1049
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /coded_by="XM_054314089.1:1260..4409"
                     /db_xref="GeneID:83449"
                     /db_xref="HGNC:HGNC:17728"
                     /db_xref="MIM:618085"
ORIGIN      
        1 mkdeagerdr evsslnskll slqldiknlh dvckrqrktl qdnqlcmeea mnsshdkkqa
       61 qalafeesev efgsskqchl rqlqqlkkkl lvlqqelefh teelqtsyys lrqyqsilek
      121 qtsdlvllhh hcklkedevi lyeeemgnhn entgeklhla qeqlalagdk iaslerslnl
      181 yrdkyqssls niellecqvk mlqgelggim gqepenkgdh skvriytspc miqehqetqk
      241 rlsevwqkvs qqddliqelr nklacsnalv lerekalikl qadfasctat hryppsssee
      301 cedikkilkh lqeqkdsqcl hveeyqnlvk dlrveleavs eqkrnimkdm mkleldlhgl
      361 reetsahier kdkditilqc rlqelqleft etqkltlkkd kflqekdeml qelekkltqv
      421 qnsllkkeke lekqqcmate lemtvkeakq dkskeaecka lqaevqklkn sleeakqqer
      481 lageapaaqq aaqckeeaal agchledtqr klqkgllldk qkadtiqelq relqmlqkes
      541 smaekeqtsn rkrveelsle lsealrklen sdkekrqlqk tvaeqdmkmn dmldrikhqh
      601 reqgsikckl eedlqeatkl ledkreqlkk skeheklmeg elealrqefk kkdktlkens
      661 rkleeenenl raelqccstq lesslnkynt sqqviqdlnk eialqkeslm slqaqldkal
      721 qkekhylqtt itkeaydals rksaacqddl tqaleklnhv tsetkslqqs ltqtqekkaq
      781 leeeiiayee rmkklntelr klrgfhqese levhafdkkl eemscqvlqw qkqhqndlkm
      841 laakeeqlre fqeemaalke nlleddkepc clpqwsvpkd tcrlyrgndq imtnleqwak
      901 qqkvaneklg nqlreqvnyi aklsgekdhl hsvmvhlqqe nkklkkeiee kkmkaentrl
      961 ctkalgpsrt estqrekvcg tlgwkglpqd mgqrmdltky igmphcpeig klnlkltwnl
     1021 kgsqqpkqsq krrtklknll tsklttnlq
//
LOCUS       XP_054175604             489 aa            linear   PRI 20-MAR-2023
DEFINITION  leukocyte immunoglobulin-like receptor subfamily B member 4 isoform
            X54 [Homo sapiens].
ACCESSION   XP_054175604
VERSION     XP_054175604.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054319629.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..489
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..489
                     /product="leukocyte immunoglobulin-like receptor subfamily
                     B member 4 isoform X54"
                     /calculated_mol_wt=53476
     CDS             1..489
                     /gene="LILRB4"
                     /gene_synonym="B4; CD85K; ILT-3; ILT3; LIR-5; LIR5"
                     /coded_by="XM_054319629.1:216..1685"
                     /db_xref="GeneID:11006"
                     /db_xref="HGNC:HGNC:6608"
                     /db_xref="MIM:604821"
ORIGIN      
        1 meqphdekdp askrphpvcl fvlpalrthp saqlgplggd amiptftall clglslgprt
       61 hmqagplpkp tlwaepgsvi swgnsvtiwc qgtleareyr ldkeespapw drqnplepkn
      121 karfsipsmt edyagryrcy yrspvgwsqp sdplelvmtg ayskptlsal psplvtsgks
      181 vtllcqsrsp mdtflliker aahpllhlrs ehgaqqhqae fpmspvtsvh ggtyrcfssh
      241 gfshyllshp sdplelivsg slegprpspt rsvstaagpe dqplmptgsv phsglrrhwe
      301 vligvlvvsi lllslllfll lqhwrqgkhr tlaqrqadfq rppgaaepep kdgglqrrss
      361 paadvqgenf sgaavkntqp edgvemdtrs phdedpqavt yakvkhsrpr remasppspl
      421 sgefldtkdr qaeedrqmdt eaaaseapqd vtyaqlhsft lrqkateppp sqegaspaep
      481 svyatlaih
//
LOCUS       XP_054200696             335 aa            linear   PRI 20-MAR-2023
DEFINITION  eIF5-mimic protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054200696
VERSION     XP_054200696.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344721.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..335
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..335
                     /product="eIF5-mimic protein 2 isoform X1"
                     /calculated_mol_wt=38803
     CDS             1..335
                     /gene="BZW1"
                     /gene_synonym="5MP2; BZAP45; Nbla10236"
                     /coded_by="XM_054344721.1:1..1008"
                     /db_xref="GeneID:9689"
                     /db_xref="HGNC:HGNC:18380"
                     /db_xref="MIM:619252"
ORIGIN      
        1 mlleqnlitv dmqkhsltfw wlvecwvsvf nklirrykyl ekgfedevkk lllflkgfse
       61 sernklamlt gvllangtln asilnslyne nlvkegvsaa favklfkswi nekdinavaa
      121 slrkvsmdnr lmelfpankq svehftkyft eaglkelsey vrnqqtigar kelqkelqeq
      181 msrgdpfkdi ilyvkeemkk nnipepvvig ivwssvmstv ewnkkeelva eqaikhlkqy
      241 spllaafttq gqseltlllk iqeycydnih fmkafqkivv lfykaevlse epilkwykda
      301 hvakgksvfl eqmkkfvewl knaeeesese aeegd
//
LOCUS       XP_047303018             362 aa            linear   PRI 20-MAR-2023
DEFINITION  basic proline-rich protein-like [Homo sapiens].
ACCESSION   XP_047303018
VERSION     XP_047303018.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047447062.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 13% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..362
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..362
                     /product="basic proline-rich protein-like"
                     /calculated_mol_wt=36563
     Region          <5..265
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..362
                     /gene="LOC124905156"
                     /coded_by="XM_047447062.1:1..1089"
                     /db_xref="GeneID:124905156"
ORIGIN      
        1 mertggrspd aadptpagqa argpgrggar avrpgasnld ptpeaprprs rrlqegaria
       61 patgglcapp pptlsrpapv gdpagpvpvs tcspgrgale gsgalgspsl gvghptvrtn
      121 lggpgpcspr taprsrrnpp kpwaqtlpgd lggtgragaa gegtrtvpgr trntphrapp
      181 qespthphcs ppgftlppsp qaspplhrph agiaptrasr lcpalgwpqp agrkrgeapt
      241 pgkclrdsar lhsgcvaags warglqppap vgwtspgpaw scsvkagpgg arrragrggv
      301 lgqrpapdpa pppdppclcf pipekserrr hpllragaca lriarlcpgg grgweraagq
      361 lp
//
LOCUS       XP_054218564            1320 aa            linear   PRI 20-MAR-2023
DEFINITION  cell surface hyaluronidase isoform X2 [Homo sapiens].
ACCESSION   XP_054218564
VERSION     XP_054218564.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362589.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1320
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1320
                     /product="cell surface hyaluronidase isoform X2"
                     /calculated_mol_wt=147308
     CDS             1..1320
                     /gene="CEMIP2"
                     /gene_synonym="TMEM2"
                     /coded_by="XM_054362589.1:113..4075"
                     /db_xref="GeneID:23670"
                     /db_xref="HGNC:HGNC:11869"
                     /db_xref="MIM:605835"
ORIGIN      
        1 myatdsrghs paflqpqngn srhpsgyvpg kvvplrpppp pksqasakft sirredratf
       61 afspeeqqaq resqkqkrhk ntficfaits fsffialaii lgisskyapd encpdqnprl
      121 rnwdpgqdsa kqvvikegdm lrltsdatvh siviqdggll vfgdnkdgsr nitlrthyil
      181 iqdggalhig aekcrykska titlygksde gesmptfgkk figveaggtl elhgarkasw
      241 tllartlnss glpfgsytfe kdfsrglnvr vidqdtakil eserfdthey rnesrrlqef
      301 lrfqdpgriv aiavgdsaak sllqgtiqmi qerlgseliq glgyrqawal vgvidggsts
      361 cnesvrnyen hssggkalaq refytvdgqk fsvtaysewi eetpqflhmg eiidgvdmra
      421 evgiltrniv iqgevedscy aenqcqffdy dtfgghimim knftsvhlsy velkhmgqqq
      481 mgrypvhfhl cgdvdykggy rhatfvdgls ihhsfsrcit vhgtngllik dtigfdtlgh
      541 cffledgieq rntlfhnlgl ltkpgtllpt drnnsmcttm rdkvfgnyip vpatdcmavs
      601 tfwiahpnnn linnaaagsq dagiwylfhk eptgessglq llakpeltpl gifynnrvhs
      661 nfkaglfidk gvkttnssaa dpreylcldn sarfrphqda npekprvaal idrliafknn
      721 dngawvrggd iivqnsafad ngigltfasd gsfpsdegss qevseslfvg esrnygfqgg
      781 qnkyvgtggi dqkprtlprn rtfpirgfqi ydgpihltrs tfkkyvptpd ryssaigflm
      841 knswqitprn nislvkfgph vslnvffgkp gpwfedcemd gdknsifhdi dgsvtgykda
      901 yvgrmdnyli rhpscvnvsk wnavicsgty aqvyvqtwst qnlsmtitrd eypsnpmvlr
      961 ginqkaafpq yqpvvmlekg ytihwngpap rttflylvnf nkndwirvgl cypsntsfqv
     1021 tfgylqrqng slskieeyep vhsleelqrk qserkfyfds stgllflylk akshrhghsy
     1081 cssqgcervk iqaatdskdi sncmakaypq yyrkpsvvkr mpamltglcq gcgtrqvvft
     1141 sdphksylpv qfqspdkaet qrgdpsvisv ngtdftfrsa gvlllvvdpc svpfrltekt
     1201 vfpladvsri eeylktgipp rsivllstrg eikqlnishl lvplglakpa hlydkgstif
     1261 lgfsgnfkps wtklftspag qglgvleqfi plqldeygcp rattvrrrdl ellkqaskah
//
LOCUS       XP_054219286             399 aa            linear   PRI 20-MAR-2023
DEFINITION  endophilin-B2 isoform X6 [Homo sapiens].
ACCESSION   XP_054219286
VERSION     XP_054219286.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363311.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 5% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..399
                     /product="endophilin-B2 isoform X6"
                     /calculated_mol_wt=44247
     CDS             1..399
                     /gene="SH3GLB2"
                     /gene_synonym="PP6569; PP9455; RRIG1"
                     /coded_by="XM_054363311.1:178..1377"
                     /db_xref="GeneID:56904"
                     /db_xref="HGNC:HGNC:10834"
                     /db_xref="MIM:609288"
ORIGIN      
        1 mdfnmkklas dagifftrav qfteekfgqa ekteldahfe nllaradstk nwtekilrqt
       61 evllqpnpsa rveeflyekl drkvpsrvtn gellaqymad aaselgpttp ygktlikvae
      121 aekqlgaaer dfihtasisf ltplrnfleg dwktiskerr llqnrrldld ackarlkkak
      181 aaeakatceg dtvpdfqetr prnyilsasa salwndevdk aeqelrvaqt efdrqaevtr
      241 lllegissth vnhlrclhef vksqttyyaq cyrhmldlqk qlgrfpgtfv gttepasppl
      301 sstspttaaa tmpvvpsvas lappgeaslc leevappasg trkarvlydy eaadsselal
      361 ladelitvys lpgmdpdwli gergnkkgkv pvtylells
//
LOCUS       NP_001374464            1455 aa            linear   PRI 21-MAR-2023
DEFINITION  adhesion G protein-coupled receptor L3 isoform 14 precursor [Homo
            sapiens].
ACCESSION   NP_001374464
VERSION     NP_001374464.1
DBSOURCE    REFSEQ: accession NM_001387535.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1455)
  AUTHORS   Vidal OM, Velez JI and Arcos-Burgos M.
  TITLE     ADGRL3 genomic variation implicated in neurogenesis and ADHD links
            functional effects to the incretin polypeptide GIP
  JOURNAL   Sci Rep 12 (1), 15922 (2022)
   PUBMED   36151371
  REMARK    GeneRIF: ADGRL3 genomic variation implicated in neurogenesis and
            ADHD links functional effects to the incretin polypeptide GIP.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1455)
  AUTHORS   Wang J, Xi SY, Zhao Q, Xia YF, Yang QY, Cai HP, Wang F, Zhao YY, Hu
            HJ, Yu ZH, Chen FR, Xu PF, Xu RZ, Wang J, Zhang J, Ke C, Zhang XH,
            Lin FH, Guo CC, Lv YC, Li C, Xie HT, Cui Q, Wu HM, Liu YH, Li Z, Su
            HK, Zeng J, Han F, Li ZJ, Sai K and Chen ZP.
  TITLE     Driver mutations in ADGRL3 are involved in the evolution of
            ependymoma
  JOURNAL   Lab Invest 102 (7), 702-710 (2022)
   PUBMED   35013530
  REMARK    GeneRIF: Driver mutations in ADGRL3 are involved in the evolution
            of ependymoma.
REFERENCE   3  (residues 1 to 1455)
  AUTHORS   Avila-Zozaya M, Rodriguez-Hernandez B, Monterrubio-Ledezma F,
            Cisneros B and Boucard AA.
  TITLE     Thwarting of Lphn3 Functions in Cell Motility and Signaling by
            Cancer-Related GAIN Domain Somatic Mutations
  JOURNAL   Cells 11 (12), 1913 (2022)
   PUBMED   35741042
  REMARK    GeneRIF: Thwarting of Lphn3 Functions in Cell Motility and
            Signaling by Cancer-Related GAIN Domain Somatic Mutations.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1455)
  AUTHORS   Moreno-Salinas AL, Holleran BJ, Ojeda-Muniz EY, Correoso-Brana KG,
            Ribalta-Mena S, Ovando-Zambrano JC, Leduc R and Boucard AA.
  TITLE     Convergent selective signaling impairment exposes the pathogenicity
            of latrophilin-3 missense variants linked to inheritable ADHD
            susceptibility
  JOURNAL   Mol Psychiatry 27 (5), 2425-2438 (2022)
   PUBMED   35393556
  REMARK    GeneRIF: Convergent selective signaling impairment exposes the
            pathogenicity of latrophilin-3 missense variants linked to
            inheritable ADHD susceptibility.
REFERENCE   5  (residues 1 to 1455)
  AUTHORS   Cervantes-Henriquez ML, Acosta-Lopez JE, Martinez AF, Arcos-Burgos
            M, Puentes-Rozo PJ and Velez JI.
  TITLE     Machine Learning Prediction of ADHD Severity: Association and
            Linkage to ADGRL3, DRD4, and SNAP25
  JOURNAL   J Atten Disord 26 (4), 587-605 (2022)
   PUBMED   34009035
  REMARK    GeneRIF: Machine Learning Prediction of ADHD Severity: Association
            and Linkage to ADGRL3, DRD4, and SNAP25.
REFERENCE   6  (residues 1 to 1455)
  AUTHORS   Ushkaryov YA, Volynski KE and Ashton AC.
  TITLE     The multiple actions of black widow spider toxins and their
            selective use in neurosecretion studies
  JOURNAL   Toxicon 43 (5), 527-542 (2004)
   PUBMED   15066411
  REMARK    Review article
REFERENCE   7  (residues 1 to 1455)
  AUTHORS   Sudhof TC.
  TITLE     alpha-Latrotoxin and its receptors: neurexins and CIRL/latrophilins
  JOURNAL   Annu Rev Neurosci 24, 933-962 (2001)
   PUBMED   11520923
  REMARK    Review article
REFERENCE   8  (residues 1 to 1455)
  AUTHORS   Kreienkamp HJ, Zitzer H, Gundelfinger ED, Richter D and Bockers TM.
  TITLE     The calcium-independent receptor for alpha-latrotoxin from human
            and rodent brains interacts with members of the ProSAP/SSTRIP/Shank
            family of multidomain proteins
  JOURNAL   J Biol Chem 275 (42), 32387-32390 (2000)
   PUBMED   10964907
REFERENCE   9  (residues 1 to 1455)
  AUTHORS   Hayflick JS.
  TITLE     A family of heptahelical receptors with adhesion-like domains: a
            marriage between two super families
  JOURNAL   J Recept Signal Transduct Res 20 (2-3), 119-131 (2000)
   PUBMED   10994649
  REMARK    Review article
REFERENCE   10 (residues 1 to 1455)
  AUTHORS   Soares MB, Bonaldo MF, Jelene P, Su L, Lawton L and Efstratiadis A.
  TITLE     Construction and characterization of a normalized cDNA library
  JOURNAL   Proc Natl Acad Sci U S A 91 (20), 9228-9232 (1994)
   PUBMED   7937745
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092643.2, AC020741.4,
            AC092668.2, AC108161.4, AC096723.3, AC092663.2 and AC007511.8.
            
            Summary: This gene encodes a member of the latrophilin subfamily of
            G-protein coupled receptors (GPCR). Latrophilins may function in
            both cell adhesion and signal transduction. In experiments with
            non-human species, endogenous proteolytic cleavage within a
            cysteine-rich GPS (G-protein-coupled-receptor proteolysis site)
            domain resulted in two subunits (a large extracellular N-terminal
            cell adhesion subunit and a subunit with substantial similarity to
            the secretin/calcitonin family of GPCRs) being non-covalently bound
            at the cell membrane. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1455
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.1"
     Protein         1..1455
                     /product="adhesion G protein-coupled receptor L3 isoform
                     14 precursor"
                     /note="latrophilin homolog 3 (cow); calcium-independent
                     alpha-latrotoxin receptor 3; latrophilin-3; lectomedin 3"
                     /calculated_mol_wt=160707
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2226
     Region          29..127
                     /region_name="Gal_Rha_Lectin_LPHN3"
                     /note="galactose/rhamnose binding lectin domain found in
                     latrophilin-3 and similar proteins; cd22846"
                     /db_xref="CDD:438703"
     Site            order(31,34,36,39,44..49,64..67,125)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:438703"
     Site            order(37..38,68..69,71..72,74,111,114)
                     /site_type="other"
                     /note="octamer interface [polypeptide binding]"
                     /db_xref="CDD:438703"
     Site            order(92..93,127)
                     /site_type="other"
                     /note="NAG binding site [chemical binding]"
                     /db_xref="CDD:438703"
     Site            93
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Region          137..393
                     /region_name="OLF"
                     /note="Olfactomedin-like domains; smart00284"
                     /db_xref="CDD:128580"
     Region          249..279
                     /region_name="Interaction with FLRT3.
                     /evidence=ECO:0000269|PubMed:26235030"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Site            459
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Region          490..554
                     /region_name="HormR"
                     /note="Domain present in hormone receptors; smart00008"
                     /db_xref="CDD:214468"
     Site            544
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Region          563..783
                     /region_name="GAIN"
                     /note="GPCR-Autoproteolysis INducing (GAIN) domain;
                     pfam16489"
                     /db_xref="CDD:435371"
     Site            754
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Site            767
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Region          809..861
                     /region_name="GPS"
                     /note="G-protein-coupled receptor proteolytic site domain;
                     smart00303"
                     /db_xref="CDD:197639"
     Site            812
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Site            838
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Site            849..850
                     /site_type="cleavage"
                     /note="Cleavage. /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Region          869..1126
                     /region_name="7tmB2_Latrophilin-3"
                     /note="Latrophilin-3, member of the class B2 family of
                     seven-transmembrane G protein-coupled receptors; cd16005"
                     /db_xref="CDD:320671"
     Region          871..896
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320671"
     Site            875..897
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Site            order(876,880,922,925..926,929,936,943,1015..1016,1018,
                     1020,1076,1079,1091,1095)
                     /site_type="other"
                     /note="putative polypeptide ligand binding pocket
                     [polypeptide binding]"
                     /db_xref="CDD:320671"
     Region          905..927
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320671"
     Site            910..927
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Region          936..963
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320671"
     Site            942..964
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Region          975..995
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320671"
     Site            977..996
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Region          1012..1041
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320671"
     Site            1016..1038
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Region          1057..1084
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320671"
     Site            1058..1080
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Site            1084
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Region          1088..1113
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320671"
     Site            1090..1112
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Region          1126..1455
                     /region_name="Latrophilin"
                     /note="Latrophilin Cytoplasmic C-terminal region;
                     pfam02354"
                     /db_xref="CDD:426735"
     Region          1131..1155
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Site            1172
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q80TS3; propagated from
                     UniProtKB/Swiss-Prot (Q9HAR2.2)"
     Region          1431..1455
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HAR2.2)"
     CDS             1..1455
                     /gene="ADGRL3"
                     /gene_synonym="CIRL3; CL3; LEC3; LPHN3"
                     /coded_by="NM_001387535.1:1614..5981"
                     /note="isoform 14 precursor is encoded by transcript
                     variant 22"
                     /db_xref="GeneID:23284"
                     /db_xref="HGNC:HGNC:20974"
                     /db_xref="MIM:616417"
ORIGIN      
        1 mwpsqllifm mllapiihaf srapipmavv rrelscesyp ielrcpgtdv imiesanygr
       61 tddkicdsdp aqmenircyl pdaykimsqr cnnrtqcavv agpdvfpdpc pgtykylevq
      121 yecvpykveq kvflcpgllk gvyqsehlfe sdhqsgawck dplqasdkiy ympwtpyrtd
      181 tlteysskdd fiagrpttty klphrvdgtg fvvydgalff nkertrnivk fdlrtriksg
      241 eaiiananyh dtspyrwggk sdidlavden glwviyateq nngkivisql npytlriegt
      301 wdtaydkrsa snafmicgil yvvksvyedd dneatgnkid yiyntdqskd slvdvpfpns
      361 yqyiaavdyn prdnllyvwn nyhvvkysld fgpldsrsgq ahhgqvsyis ppihldsele
      421 rpsvkgplgm gstttsttlr tttlspgrst tpsvsgrrnr ststpspave vlddmtthlp
      481 sassqipale esceaveare imwfktrqgq iakqpcpagt igvstylcla pdgiwdpqgp
      541 dlsncsspwv nhitqklksg etaaniarel aeqtrnhlna gditysvram dqlvglldvq
      601 lrnltpggkd saarslnklq krerscrayv qamvetvnnl lqpqalnawr dlttsdqlra
      661 atmllhtvee safvladnll ktdivrentd niklevarls tegnledlkf penmghgsti
      721 qlsantlkqn grngeirvaf vlynnlgpyl stenasmklg tealstnhsv ivnspvitaa
      781 inkefsnkvy ladpvvftvk hikqseenfn pncsfwsysk rtmtgywstq gcrllttnkt
      841 httcscnhlt nfavlmahve vkhsdavhdl lldvitwvgi llslvcllic iftfcffrgl
      901 qsdrntihkn lcislfvael lfliginrtd qpiacavfaa llhffflaaf twmflegvql
      961 yimlvevfes ehsrrkyfyl vgygmpaliv avsaavdyrs ygtdkvcwlr ldtyfiwsfi
     1021 gpatliimln viflgialyk mfhhtailkp esgcldniks wvigaiallc llgltwafgl
     1081 myinestvim aylftifnsl qgmfififhc vlqkkvrkey gkclrthccs gkstessigs
     1141 gktsgsrtpg rystgsqsri rrmwndtvrk qsessfitgd inssaslnre gllnnardts
     1201 vmdtlplngn hgnsysiasg eylsncvqii drgynhneta lekkilkelt snyipsylnn
     1261 hersseqnrn lmnklvnnlg sgreddaivl ddatsfnhee slglelihee sdapllpprv
     1321 ystenhqphh ytrrripqdh sesffplltn ehtedlqsph rdslytsmpt lagvaatesv
     1381 ttstqteppp akcgdaedvy yksmpnlgsr nhvhqlhtyy qlgrgssdgf ivppnkdgtp
     1441 pegsskgpah lvtsl
//
LOCUS       NP_003635                336 aa            linear   PRI 26-MAR-2023
DEFINITION  growth arrest-specific protein 7 isoform a [Homo sapiens].
ACCESSION   NP_003635
VERSION     NP_003635.2
DBSOURCE    REFSEQ: accession NM_003644.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 336)
  AUTHORS   Dai C, Dai SY, Gao Y, Yan T, Zhou QY, Liu SJ, Liu X, Deng DN, Wang
            DH, Qin QF and Zi D.
  TITLE     Circ_0078607 increases platinum drug sensitivity via
            miR-196b-5p/GAS7 axis in ovarian cancer
  JOURNAL   Epigenetics 18 (1), 2175565 (2023)
   PUBMED   36908025
  REMARK    GeneRIF: Circ_0078607 increases platinum drug sensitivity via
            miR-196b-5p/GAS7 axis in ovarian cancer.
REFERENCE   2  (residues 1 to 336)
  AUTHORS   Araki MVR, Silva YCO, Rodrigues TAR, Bajano FF, de Souza BB, Costa
            FF, Costa VP, de Melo MB and de Vasconcellos JPC.
  TITLE     Association of ABCA1 (rs2472493) and GAS7 (rs9913911) gene variants
            with primary open-angle glaucoma in a Brazilian population
  JOURNAL   Mol Vis 28, 1-10 (2022)
   PUBMED   35400990
  REMARK    GeneRIF: Association of ABCA1 (rs2472493) and GAS7 (rs9913911) gene
            variants with primary open-angle glaucoma in a Brazilian
            population.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 336)
  AUTHORS   Dong Z, Yeo KS, Lopez G, Zhang C, Dankert Eggum EN, Rokita JL, Ung
            CY, Levee TM, Her ZP, Howe CJ, Hou X, van Ree JH, Li S, He S, Tao
            T, Fritchie K, Torres-Mora J, Lehman JS, Meves A, Razidlo GL, Rathi
            KS, Weroha SJ, Look AT, van Deursen JM, Li H, Westendorf JJ, Maris
            JM and Zhu S.
  TITLE     GAS7 Deficiency Promotes Metastasis in MYCN-Driven Neuroblastoma
  JOURNAL   Cancer Res 81 (11), 2995-3007 (2021)
   PUBMED   33602789
  REMARK    GeneRIF: GAS7 Deficiency Promotes Metastasis in MYCN-Driven
            Neuroblastoma.
REFERENCE   4  (residues 1 to 336)
  AUTHORS   Shimizu T, Hirose K, Uchida C and Uchida T.
  TITLE     Growth arrest specific protein 7 inhibits tau fibrillogenesis
  JOURNAL   Biochem Biophys Res Commun 526 (2), 281-286 (2020)
   PUBMED   32216967
  REMARK    GeneRIF: Growth arrest specific protein 7 inhibits tau
            fibrillogenesis.
REFERENCE   5  (residues 1 to 336)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 336)
  AUTHORS   Chao CC, Chang PY and Lu HH.
  TITLE     Human Gas7 isoforms homologous to mouse transcripts differentially
            induce neurite outgrowth
  JOURNAL   J Neurosci Res 81 (2), 153-162 (2005)
   PUBMED   15948147
  REMARK    GeneRIF: This work reports the identification of two human Gas7
            cDNA: hGas7-a with 2,427 nucleotides, which encodes 330 amino
            acids, and hGas7-b with 2,610 nucleotides, which encodes 412 amino
            acids according to predicted open-reading-frames.
REFERENCE   7  (residues 1 to 336)
  AUTHORS   She BR, Liou GG and Lin-Chao S.
  TITLE     Association of the growth-arrest-specific protein Gas7 with F-actin
            induces reorganization of microfilaments and promotes membrane
            outgrowth
  JOURNAL   Exp Cell Res 273 (1), 34-44 (2002)
   PUBMED   11795944
REFERENCE   8  (residues 1 to 336)
  AUTHORS   Megonigal MD, Cheung NK, Rappaport EF, Nowell PC, Wilson RB, Jones
            DH, Addya K, Leonard DG, Kushner BH, Williams TM, Lange BJ and
            Felix CA.
  TITLE     Detection of leukemia-associated MLL-GAS7 translocation early
            during chemotherapy with DNA topoisomerase II inhibitors
  JOURNAL   Proc Natl Acad Sci U S A 97 (6), 2814-2819 (2000)
   PUBMED   10706619
REFERENCE   9  (residues 1 to 336)
  AUTHORS   Ju YT, Chang AC, She BR, Tsaur ML, Hwang HM, Chao CC, Cohen SN and
            Lin-Chao S.
  TITLE     gas7: A gene expressed preferentially in growth-arrested
            fibroblasts and terminally differentiated Purkinje neurons affects
            neurite formation
  JOURNAL   Proc Natl Acad Sci U S A 95 (19), 11423-11428 (1998)
   PUBMED   9736752
REFERENCE   10 (residues 1 to 336)
  AUTHORS   Kurtz A and Zimmer A.
  TITLE     Interspecies fluorescence in situ hybridization further defines
            synteny homology between mouse chromosome 11 and human chromosome
            17
  JOURNAL   Mamm Genome 6 (5), 379-380 (1995)
   PUBMED   7626897
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026591.15, AJ224876.1 and
            AB007854.1.
            On Jan 30, 2004 this sequence version replaced NP_003635.1.
            
            Summary: Growth arrest-specific 7 is expressed primarily in
            terminally differentiated brain cells and predominantly in mature
            cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal
            development. Several transcript variants encoding proteins which
            vary in the N-terminus have been described. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (a) uses an alternate first exon
            resulting in a shorter 5' UTR and alternative translation
            initiation site, compared to variant c. The encoded protein
            (isoform a) is shorter than that encoded by variant c.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.85756.1,
                                           SRR1803614.102661.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..336
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     Protein         1..336
                     /product="growth arrest-specific protein 7 isoform a"
                     /calculated_mol_wt=39075
     Region          <16..61
                     /region_name="WW_FCH_linker"
                     /note="Unstructured linker region between on GAS7 protein;
                     pfam16623"
                     /db_xref="CDD:435473"
     Region          74..306
                     /region_name="F-BAR_GAS7"
                     /note="The F-BAR (FES-CIP4 Homology and
                     Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific
                     protein 7; cd07649"
                     /db_xref="CDD:153333"
     Site            order(79,82,89,92..93,96,99..100,103..104,107,111,114,118,
                     141,144,240,244,269,273,276,279..280,283,287,290,294,298,
                     301..302,305)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153333"
     CDS             1..336
                     /gene="GAS7"
                     /coded_by="NM_003644.3:190..1200"
                     /note="isoform a is encoded by transcript variant a"
                     /db_xref="CCDS:CCDS45611.1"
                     /db_xref="GeneID:8522"
                     /db_xref="HGNC:HGNC:4169"
                     /db_xref="MIM:603127"
ORIGIN      
        1 msnmensfdd vsclspqnlg ssspskkqsk entitincvt fphpdtmpeq qllkptewsy
       61 cdyfwadkkd pqgngtvagf elllqkqlkg kqmqkemsef irerikieed yaknlaklsq
      121 nslasqeegs lgeawaqvkk sladeaevhl kfsaklhsev ekplmnfren fkkdmkkcdh
      181 hiadlrkqla sryasvekar kalterqrdl emktqqleik lsnkteedik karrkstqag
      241 ddlmrcvdly nqaqskwfee mvtttleler levervemir qhlcqytqlr hetdmfnqst
      301 vepvdqllrk vdpakdrelw vrehktgnir pvdmei
//
LOCUS       NP_003887                418 aa            linear   PRI 03-APR-2023
DEFINITION  lactosylceramide alpha-2,3-sialyltransferase isoform 1 [Homo
            sapiens].
ACCESSION   NP_003887
VERSION     NP_003887.3
DBSOURCE    REFSEQ: accession NM_003896.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 418)
  AUTHORS   Watanabe S, Lei M, Nakagawa E, Takeshita E, Inamori KI, Shishido F,
            Sasaki M, Mitsuhashi S, Matsumoto N, Kimura Y, Iwasaki M, Takahashi
            Y, Mizusawa H, Migita O, Ohno I and Inokuchi JI.
  TITLE     Neurological insights on two siblings with GM3 synthase deficiency
            due to novel compound heterozygous ST3GAL5 variants
  JOURNAL   Brain Dev 45 (5), 270-277 (2023)
   PUBMED   36690566
  REMARK    GeneRIF: Neurological insights on two siblings with GM3 synthase
            deficiency due to novel compound heterozygous ST3GAL5 variants.
REFERENCE   2  (residues 1 to 418)
  AUTHORS   Liu J, Li M, Wu J, Qi Q, Li Y, Wang S, Liang S, Zhang Y, Zhu Z,
            Huang R, Yan J and Zhu R.
  TITLE     Identification of ST3GAL5 as a prognostic biomarker correlating
            with CD8+ T cell exhaustion in clear cell renal cell carcinoma
  JOURNAL   Front Immunol 13, 979605 (2022)
   PUBMED   36172374
  REMARK    GeneRIF: Identification of ST3GAL5 as a prognostic biomarker
            correlating with CD8(+) T cell exhaustion in clear cell renal cell
            carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 418)
  AUTHORS   Indellicato R, Parini R, Domenighini R, Malagolini N, Iascone M,
            Gasperini S, Masera N, dall'Olio F and Trinchera M.
  TITLE     Total loss of GM3 synthase activity by a normally processed enzyme
            in a novel variant and in all ST3GAL5 variants reported to cause a
            distinct congenital disorder of glycosylation
  JOURNAL   Glycobiology 29 (3), 229-241 (2019)
   PUBMED   30576498
  REMARK    GeneRIF: HEK-293T clones permanently expressing HaloTag-ST3GAL5
            carrying each of the five variants were assessed by quantitative
            PCR, flow cytometry, western blotting and confocal microscopy.
            Compared with the very mild phenotype of st3gal5 KO mouse models,
            the results suggest that unknown mechanisms, in addition to the
            lack of a-b-c-series gangliosides, contribute to the syndrome.
REFERENCE   4  (residues 1 to 418)
  AUTHORS   Gordon-Lipkin E, Cohen JS, Srivastava S, Soares BP, Levey E and
            Fatemi A.
  TITLE     ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism
            and a Genetic Cause of Intellectual Disability and Choreoathetosis
  JOURNAL   J Child Neurol 33 (13), 825-831 (2018)
   PUBMED   30185102
  REMARK    GeneRIF: GM3 synthase deficiency is a neurodevelopmental disorder
            with consistent features of profound intellectual disability,
            choreoathetosis, and deafness.
REFERENCE   5  (residues 1 to 418)
  AUTHORS   Trinchera M, Parini R, Indellicato R, Domenighini R and dall'Olio
            F.
  TITLE     Diseases of ganglioside biosynthesis: An expanding group of
            congenital disorders of glycosylation
  JOURNAL   Mol Genet Metab 124 (4), 230-237 (2018)
   PUBMED   29983310
  REMARK    GeneRIF: Since the nineties, mice lacking genes for single
            glycosyltransferases involved in ganglioside biosynthesis,
            including ST3GAL5 and B4GALNT1, were created and studied. The
            resulting phenotypes were frequently mild or very mild, so double
            knock-out animals were created to effectively study the function of
            gangliosides
            Review article
REFERENCE   6  (residues 1 to 418)
  AUTHORS   Kim KW, Kim SW, Min KS, Kim CH and Lee YC.
  TITLE     Genomic structure of human GM3 synthase gene (hST3Gal V) and
            identification of mRNA isoforms in the 5'-untranslated region
  JOURNAL   Gene 273 (2), 163-171 (2001)
   PUBMED   11595162
REFERENCE   7  (residues 1 to 418)
  AUTHORS   Allende ML, Li J, Darling DS, Worth CA and Young WW Jr.
  TITLE     Evidence supporting a late Golgi location for lactosylceramide to
            ganglioside GM3 conversion
  JOURNAL   Glycobiology 10 (10), 1025-1032 (2000)
   PUBMED   11030748
REFERENCE   8  (residues 1 to 418)
  AUTHORS   Kapitonov D, Bieberich E and Yu RK.
  TITLE     Combinatorial PCR approach to homology-based cloning: cloning and
            expression of mouse and human GM3-synthase
  JOURNAL   Glycoconj J 16 (7), 337-350 (1999)
   PUBMED   10619706
REFERENCE   9  (residues 1 to 418)
  AUTHORS   Fukumoto S, Miyazaki H, Goto G, Urano T, Furukawa K and Furukawa K.
  TITLE     Expression cloning of mouse cDNA of CMP-NeuAc:Lactosylceramide
            alpha2,3-sialyltransferase, an enzyme that initiates the synthesis
            of gangliosides
  JOURNAL   J Biol Chem 274 (14), 9271-9276 (1999)
   PUBMED   10092602
REFERENCE   10 (residues 1 to 418)
  AUTHORS   Ishii A, Ohta M, Watanabe Y, Matsuda K, Ishiyama K, Sakoe K,
            Nakamura M, Inokuchi J, Sanai Y and Saito M.
  TITLE     Expression cloning and functional characterization of human cDNA
            for ganglioside GM3 synthase
  JOURNAL   J Biol Chem 273 (48), 31652-31655 (1998)
   PUBMED   9822625
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK001340.1, AB018356.1,
            CA503200.1 and AC105053.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 23, 2006 this sequence version replaced NP_003887.2.
            
            Summary: Ganglioside GM3 is known to participate in the induction
            of cell differentiation, modulation of cell proliferation,
            maintenance of fibroblast morphology, signal transduction, and
            integrin-mediated cell adhesion. The protein encoded by this gene
            is a type II membrane protein which catalyzes the formation of GM3
            using lactosylceramide as the substrate. The encoded protein is a
            member of glycosyltransferase family 29 and may be localized to the
            Golgi apparatus. Mutation in this gene has been associated with
            Amish infantile epilepsy syndrome. Transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB018356.1, SRR3476690.425314.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000638572.2/ ENSP00000491316.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     Protein         1..418
                     /product="lactosylceramide alpha-2,3-sialyltransferase
                     isoform 1"
                     /EC_number="2.4.3.9"
                     /note="sialyltransferase 9 (CMP-NeuAc:lactosylceramide
                     alpha-2,3-sialyltransferase; GM3 synthase); alpha
                     2,3-sialyltransferase V; ganglioside GM3 synthase; ST3
                     beta-galactoside alpha-23-sialyltransferase 5"
                     /calculated_mol_wt=47859
     Region          1..25
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UNP4.4)"
     Site            62..82
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UNP4.4)"
     Site            86
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UNP4.4)"
     Region          156..406
                     /region_name="Glyco_transf_29"
                     /note="Glycosyltransferase family 29 (sialyltransferase);
                     pfam00777"
                     /db_xref="CDD:425864"
     Site            236
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UNP4.4)"
     Site            390
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UNP4.4)"
     CDS             1..418
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /coded_by="NM_003896.4:86..1342"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1986.2"
                     /db_xref="GeneID:8869"
                     /db_xref="HGNC:HGNC:10872"
                     /db_xref="MIM:604402"
ORIGIN      
        1 mrtkaagcae rrplqprtea aaapagramp seytyvklrs dcsrpslqwy traqskmrrp
       61 slllkdilkc tllvfgvwil yilklnytte ecdmkkmhyv dpdhvkraqk yaqqvlqkec
      121 rpkfaktsma llfehrysvd llpfvqkapk dseaeskydp pfgfrkfssk vqtllellpe
      181 hdlpehlkak tcrrcvvigs ggilhglelg htlnqfdvvi rlnsapvegy sehvgnktti
      241 rmtypegapl sdleyysndl fvavlfksvd fnwlqamvkk etlpfwvrlf fwkqvaekip
      301 lqpkhfriln pviiketafd ilqysepqsr fwgrdknvpt igviavvlat hlcdevslag
      361 fgydlnqprt plhyfdsqcm aamnfqtmhn vttetkfllk lvkegvvkdl sggidref
//
LOCUS       NP_001289620             317 aa            linear   PRI 10-APR-2023
DEFINITION  apolipoprotein E isoform b precursor [Homo sapiens].
ACCESSION   NP_001289620
VERSION     NP_001289620.1
DBSOURCE    REFSEQ: accession NM_001302691.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 317)
  AUTHORS   Snellman A, Ekblad LL, Tuisku J, Koivumaki M, Ashton NJ,
            Lantero-Rodriguez J, Karikari TK, Helin S, Bucci M, Loyttyniemi E,
            Parkkola R, Karrasch M, Scholl M, Zetterberg H, Blennow K and Rinne
            JO.
  TITLE     APOE epsilon4 gene dose effect on imaging and blood biomarkers of
            neuroinflammation and beta-amyloid in cognitively unimpaired
            elderly
  JOURNAL   Alzheimers Res Ther 15 (1), 71 (2023)
   PUBMED   37016464
  REMARK    GeneRIF: APOE epsilon4 gene dose effect on imaging and blood
            biomarkers of neuroinflammation and beta-amyloid in cognitively
            unimpaired elderly.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 317)
  AUTHORS   Granot-Hershkovitz E, Xia R, Yang Y, Spitzer B, Tarraf W, Vasquez
            PM, Lipton RB, Daviglus M, Argos M, Cai J, Kaplan R, Fornage M,
            DeCarli C, Gonzalez HM and Sofer T.
  TITLE     Interaction analysis of ancestry-enriched variants with
            APOE-varepsilon4 on MCI in the Study of Latinos-Investigation of
            Neurocognitive Aging
  JOURNAL   Sci Rep 13 (1), 5114 (2023)
   PUBMED   36991100
  REMARK    GeneRIF: Interaction analysis of ancestry-enriched variants with
            APOE-varepsilon4 on MCI in the Study of Latinos-Investigation of
            Neurocognitive Aging.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 317)
  AUTHORS   Rahman N, Zakiullah, Jan A, Saeed M, Khan MA, Parveen Z, Iqbal J,
            Ali S, Shah WA, Akbar R and Khuda F.
  TITLE     Association of APOE (rs429358 and rs7412) and PON1 (Q192R and L55M)
            Variants with Myocardial Infarction in the Pashtun Ethnic
            Population of Khyber Pakhtunkhwa, Pakistan
  JOURNAL   Genes (Basel) 14 (3), 687 (2023)
   PUBMED   36980959
  REMARK    GeneRIF: Association of APOE (rs429358 and rs7412) and PON1 (Q192R
            and L55M) Variants with Myocardial Infarction in the Pashtun Ethnic
            Population of Khyber Pakhtunkhwa, Pakistan.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 317)
  AUTHORS   Wu C and Cheng W.
  TITLE     [Apolipoprotein E enhances migration of endometrial cancer cells
            byactivating the ERK/MMP9 signaling pathway]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 43 (2), 232-241 (2023)
   PUBMED   36946043
  REMARK    GeneRIF: [Apolipoprotein E enhances migration of endometrial cancer
            cells byactivating the ERK/MMP9 signaling pathway].
REFERENCE   5  (residues 1 to 317)
  AUTHORS   Greyshock,N., Guyton,J.R., Sebastian,S. and Okorodudu,D.
  TITLE     APOE p.Leu167del-Related Lipid Disorders - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24921113
REFERENCE   6  (residues 1 to 317)
  AUTHORS   Bird,T.D.
  TITLE     Alzheimer Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301340
REFERENCE   7  (residues 1 to 317)
  AUTHORS   McLean,J.W., Elshourbagy,N.A., Chang,D.J., Mahley,R.W. and
            Taylor,J.M.
  TITLE     Human apolipoprotein E mRNA. cDNA cloning and nucleotide sequencing
            of a new variant
  JOURNAL   J Biol Chem 259 (10), 6498-6504 (1984)
   PUBMED   6327682
REFERENCE   8  (residues 1 to 317)
  AUTHORS   Utermann,G., Pruin,N. and Steinmetz,A.
  TITLE     Polymorphism of apolipoprotein E. III. Effect of a single
            polymorphic gene locus on plasma lipid levels in man
  JOURNAL   Clin Genet 15 (1), 63-72 (1979)
   PUBMED   759055
REFERENCE   9  (residues 1 to 317)
  AUTHORS   Innerarity,T.L., Mahley,R.W., Weisgraber,K.H. and Bersot,T.P.
  TITLE     Apoprotein (E--A-II) complex of human plasma lipoproteins. II.
            Receptor binding activity of a high density lipoprotein subfraction
            modulated by the apo(E--A-II) complex
  JOURNAL   J Biol Chem 253 (17), 6289-6295 (1978)
   PUBMED   210175
REFERENCE   10 (residues 1 to 317)
  AUTHORS   Weisgraber,K.H. and Mahley,R.W.
  TITLE     Apoprotein (E--A-II) complex of human plasma lipoproteins. I.
            Characterization of this mixed disulfide and its identification in
            a high density lipoprotein subfraction
  JOURNAL   J Biol Chem 253 (17), 6281-6288 (1978)
   PUBMED   210174
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI550631.1 and BC003557.1.
            
            Summary: The protein encoded by this gene is a major apoprotein of
            the chylomicron. It binds to a specific liver and peripheral cell
            receptor, and is essential for the normal catabolism of
            triglyceride-rich lipoprotein constituents. This gene maps to
            chromosome 19 in a cluster with the related apolipoprotein C1 and
            C2 genes. Mutations in this gene result in familial
            dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III),
            in which increased plasma cholesterol and triglycerides are the
            consequence of impaired clearance of chylomicron and VLDL remnants.
            [provided by RefSeq, Jun 2016].
            
            Transcript Variant: This variant (5) contains an alternate 5'
            terminal exon and uses an alternate splice site in another 5' exon,
            and it thus differs in the 5' UTR and initiates translation at a
            downstream in-frame start codon, compared to variant 1. The encoded
            isoform (b) is shorter at the N-terminus, compared to isoform a.
            Variants 2, 3, 4 and 5 all encode isoform b.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.687972.1,
                                           SRR18074969.1932765.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..317
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     Protein         1..317
                     /product="apolipoprotein E isoform b precursor"
                     /note="apolipoprotein E3"
                     /calculated_mol_wt=34237
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1935
     mat_peptide     19..317
                     /product="Apolipoprotein E. /id=PRO_0000001987"
                     /note="propagated from UniProtKB/Swiss-Prot (P02649.1)"
                     /calculated_mol_wt=34237
     Site            26
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (P02649.1)"
     Site            36
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (P02649.1)"
     Region          80..255
                     /region_name="8 X 22 AA approximate tandem repeats"
                     /note="propagated from UniProtKB/Swiss-Prot (P02649.1)"
     Region          86..266
                     /region_name="Apolipoprotein"
                     /note="Apolipoprotein A1/A4/E domain; pfam01442"
                     /db_xref="CDD:426264"
     Site            93
                     /site_type="glycosylation"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:10452964; propagated from
                     UniProtKB/Swiss-Prot (P02649.1)"
     Site            147
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P02649.1)"
     Region          158..168
                     /region_name="LDL and other lipoprotein receptors binding.
                     /evidence=ECO:0000269|PubMed:20030366,
                     ECO:0000269|PubMed:2063194"
                     /note="propagated from UniProtKB/Swiss-Prot (P02649.1)"
     Region          210..290
                     /region_name="Lipid-binding and lipoprotein association.
                     /evidence=ECO:0000269|PubMed:2280190,
                     ECO:0000269|PubMed:8071364"
                     /note="propagated from UniProtKB/Swiss-Prot (P02649.1)"
     Site            212
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:19838169,
                     ECO:0000269|PubMed:2498325; propagated from
                     UniProtKB/Swiss-Prot (P02649.1)"
     Region          266..317
                     /region_name="Homooligomerization.
                     /evidence=ECO:0000269|PubMed:8340399"
                     /note="propagated from UniProtKB/Swiss-Prot (P02649.1)"
     Region          278..290
                     /region_name="Specificity for association with VLDL.
                     /evidence=ECO:0000269|PubMed:8071364"
                     /note="propagated from UniProtKB/Swiss-Prot (P02649.1)"
     Site            307
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:19838169; propagated from
                     UniProtKB/Swiss-Prot (P02649.1)"
     Site            308
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:19838169,
                     ECO:0000269|PubMed:20511397; propagated from
                     UniProtKB/Swiss-Prot (P02649.1)"
     Site            314
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (P02649.1)"
     CDS             1..317
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /coded_by="NM_001302691.2:85..1038"
                     /note="isoform b precursor is encoded by transcript
                     variant 5"
                     /db_xref="CCDS:CCDS12647.1"
                     /db_xref="GeneID:348"
                     /db_xref="HGNC:HGNC:613"
                     /db_xref="MIM:107741"
ORIGIN      
        1 mkvlwaallv tflagcqakv eqavetepep elrqqtewqs gqrwelalgr fwdylrwvqt
       61 lseqvqeell ssqvtqelra lmdetmkelk aykseleeql tpvaeetrar lskelqaaqa
      121 rlgadmedvc grlvqyrgev qamlgqstee lrvrlashlr klrkrllrda ddlqkrlavy
      181 qagaregaer glsairerlg plveqgrvra atvgslagqp lqeraqawge rlrarmeemg
      241 srtrdrldev keqvaevrak leeqaqqirl qaeafqarlk swfeplvedm qrqwaglvek
      301 vqaavgtsaa pvpsdnh
//
LOCUS       NP_001137461             638 aa            linear   PRI 17-APR-2022
DEFINITION  neuroblastoma breakpoint family member 4 [Homo sapiens].
ACCESSION   NP_001137461
VERSION     NP_001137461.1
DBSOURCE    REFSEQ: accession NM_001143989.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 638)
  AUTHORS   Chen W, Di Z, Chen Z, Nan K, Gu J, Ge F, Liu J, Zhang H and Miao C.
  TITLE     NBPF4 mitigates progression in colorectal cancer through the
            regulation of EZH2-associated ETFA
  JOURNAL   J Cell Mol Med 25 (18), 9038-9050 (2021)
   PUBMED   34405537
  REMARK    GeneRIF: NBPF4 mitigates progression in colorectal cancer through
            the regulation of EZH2-associated ETFA.
REFERENCE   2  (residues 1 to 638)
  AUTHORS   Vandepoele K, Van Roy N, Staes K, Speleman F and van Roy F.
  TITLE     A novel gene family NBPF: intricate structure generated by gene
            duplications during primate evolution
  JOURNAL   Mol Biol Evol 22 (11), 2265-2274 (2005)
   PUBMED   16079250
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC402863.1, AK316438.1,
            AK057395.1 and AL359258.23.
            
            Summary: This gene is a member of the neuroblastoma breakpoint
            family (NBPF) which consists of dozens of recently duplicated genes
            primarily located in segmental duplications on human chromosome 1.
            This gene family has experienced its greatest expansion within the
            human lineage and has expanded, to a lesser extent, among primates
            in general. Members of this gene family are characterized by
            tandemly repeated copies of DUF1220 protein domains. Gene copy
            number variations in the human chromosomal region 1q21.1, where
            most DUF1220 domains are located, have been implicated in a number
            of developmental and neurogenetic diseases such as microcephaly,
            macrocephaly, autism, schizophrenia, cognitive disability,
            congenital heart disease, neuroblastoma, and congenital kidney and
            urinary tract anomalies. Altered expression of some gene family
            members is associated with several types of cancer. This gene
            family contains numerous pseudogenes. [provided by RefSeq, Mar
            2013].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302318.1, AK316438.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000415641.8/ ENSP00000389237.2
            RefSeq Select criteria :: based on computational evidence
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..638
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     Protein         1..638
                     /product="neuroblastoma breakpoint family member 4"
                     /calculated_mol_wt=71922
     Region          5..>150
                     /region_name="COG1340"
                     /note="Uncharacterized coiled-coil protein, contains
                     DUF342 domain [Function unknown]"
                     /db_xref="CDD:224259"
     Region          185..242
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          330..397
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          404..471
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     CDS             1..638
                     /gene="NBPF4"
                     /coded_by="NM_001143989.3:214..2130"
                     /db_xref="CCDS:CCDS44182.1"
                     /db_xref="GeneID:148545"
                     /db_xref="HGNC:HGNC:26550"
                     /db_xref="MIM:613994"
ORIGIN      
        1 mvvsadplss eraemnilei nqelrsqlae snqqfrdlke kflitqatay slanqlkkyk
       61 ceeykdiids vlrdelqsme klaeklrqae elrqykalvh sqakeltqlr eklregrdas
      121 rwlnkhlktl ltpddpdksq gqdlreqlae ghrlaehlvh klspendede dededdkdee
      181 vekvqespap revqkteeke vpqdsleeca vtcsnshnps nsnqphrstk itfkehevds
      241 alvvesehph deeeealnip penqndheee egkapvpprh hdksnsyrhr evsflaldeq
      301 kvcsaqdvar dysnpkwdet slgflekqsd leevkgqetv aprlsrgplr vdkheipqes
      361 ldgccltpsi lpdltpsyhp ywstlysfed kqvslalvdk ikkdqeeied qsppcprlsq
      421 elpevkeqev pedsvnevyl tpsvhhdvsd chqpysstls sledqlacsa ldvaspteaa
      481 cpqgtwsgdl shhqsevqvs qaqlepstlv psclrlqldq gfhcgnglaq rglssttcsf
      541 sanadsgnqw pfqelvleps lgmknppqle ddalegsasn tqgrqvtgri raslvlilkt
      601 irrrlpfskw rlafrfagph aesaeipnta grtqrmag
//
LOCUS       NP_001305727             686 aa            linear   PRI 25-DEC-2022
DEFINITION  semaphorin-3F isoform 3 [Homo sapiens].
ACCESSION   NP_001305727
VERSION     NP_001305727.1
DBSOURCE    REFSEQ: accession NM_001318798.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 686)
  AUTHORS   Duncan BW, Mohan V, Wade SD, Truong Y, Kampov-Polevoi A, Temple BR
            and Maness PF.
  TITLE     Semaphorin3F Drives Dendritic Spine Pruning Through Rho-GTPase
            Signaling
  JOURNAL   Mol Neurobiol 58 (8), 3817-3834 (2021)
   PUBMED   33856648
  REMARK    GeneRIF: Semaphorin3F Drives Dendritic Spine Pruning Through
            Rho-GTPase Signaling.
REFERENCE   2  (residues 1 to 686)
  AUTHORS   Halabi R, Watterston C, Hehr CL, Mori-Kreiner R, Childs SJ and
            McFarlane S.
  TITLE     Semaphorin 3fa Controls Ocular Vascularization From the Embryo
            Through to the Adult
  JOURNAL   Invest Ophthalmol Vis Sci 62 (2), 21 (2021)
   PUBMED   33595613
  REMARK    GeneRIF: Semaphorin 3fa Controls Ocular Vascularization From the
            Embryo Through to the Adult.
REFERENCE   3  (residues 1 to 686)
  AUTHORS   Plant T, Eamsamarng S, Sanchez-Garcia MA, Reyes L, Renshaw SA,
            Coelho P, Mirchandani AS, Morgan JM, Ellett FE, Morrison T,
            Humphries D, Watts ER, Murphy F, Raffo-Iraolagoitia XL, Zhang A,
            Cash JL, Loynes C, Elks PM, Van Eeden F, Carlin LM, Furley AJ,
            Whyte MK and Walmsley SR.
  TITLE     Semaphorin 3F signaling actively retains neutrophils at sites of
            inflammation
  JOURNAL   J Clin Invest 130 (6), 3221-3237 (2020)
   PUBMED   32191647
  REMARK    GeneRIF: Semaphorin 3F signaling actively retains neutrophils at
            sites of inflammation.
REFERENCE   4  (residues 1 to 686)
  AUTHORS   Zhang H, Vreeken D, Junaid A, Wang G, Sol WMPJ, de Bruin RG, van
            Zonneveld AJ and van Gils JM.
  TITLE     Endothelial Semaphorin 3F Maintains Endothelial Barrier Function
            and Inhibits Monocyte Migration
  JOURNAL   Int J Mol Sci 21 (4), 1471 (2020)
   PUBMED   32098168
  REMARK    GeneRIF: Endothelial Semaphorin 3F Maintains Endothelial Barrier
            Function and Inhibits Monocyte Migration.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 686)
  AUTHORS   Xie Z, Li T, Huang B, Liu S, Zhang L and Zhang Q.
  TITLE     Semaphorin 3F Serves as a Tumor Suppressor in Esophageal Squamous
            Cell Carcinoma and is Associated With Lymph Node Metastasis in
            Disease Progression
  JOURNAL   Technol Cancer Res Treat 19, 1533033820928117 (2020)
   PUBMED   32441221
  REMARK    GeneRIF: Semaphorin 3F Serves as a Tumor Suppressor in Esophageal
            Squamous Cell Carcinoma and is Associated With Lymph Node
            Metastasis in Disease Progression.
REFERENCE   6  (residues 1 to 686)
  AUTHORS   Sekido Y, Bader S, Latif F, Chen JY, Duh FM, Wei MH, Albanesi JP,
            Lee CC, Lerman MI and Minna JD.
  TITLE     Human semaphorins A(V) and IV reside in the 3p21.3 small cell lung
            cancer deletion region and demonstrate distinct expression patterns
  JOURNAL   Proc Natl Acad Sci U S A 93 (9), 4120-4125 (1996)
   PUBMED   8633026
REFERENCE   7  (residues 1 to 686)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   8  (residues 1 to 686)
  AUTHORS   Goshima Y, Nakamura F, Strittmatter P and Strittmatter SM.
  TITLE     Collapsin-induced growth cone collapse mediated by an intracellular
            protein related to UNC-33
  JOURNAL   Nature 376 (6540), 509-514 (1995)
   PUBMED   7637782
REFERENCE   9  (residues 1 to 686)
  AUTHORS   Kolodkin AL, Matthes DJ and Goodman CS.
  TITLE     The semaphorin genes encode a family of transmembrane and secreted
            growth cone guidance molecules
  JOURNAL   Cell 75 (7), 1389-1399 (1993)
   PUBMED   8269517
REFERENCE   10 (residues 1 to 686)
  AUTHORS   Luo Y, Raible D and Raper JA.
  TITLE     Collapsin: a protein in brain that induces the collapse and
            paralysis of neuronal growth cones
  JOURNAL   Cell 75 (2), 217-227 (1993)
   PUBMED   8402908
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ949723.1, AB209259.1,
            AC000063.1 and CB240860.1.
            
            Summary: This gene encodes a member of the semaphorin III family of
            secreted signaling proteins that are involved in axon guidance
            during neuronal development. The encoded protein contains an
            N-terminal Sema domain, an immunoglobulin loop and a C-terminal
            basic domain. This gene is expressed by the endothelial cells where
            it was found to act in an autocrine fashion to induce apoptosis,
            inhibit cell proliferation and survival, and function as an
            anti-tumorigenic agent. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Jan 2016].
            
            Transcript Variant: This variant (3) has multiple differences in
            the 5' coding region and initiates translation at a downstream
            start site, compared to variant 1. It encodes isoform 3 which is
            shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB209259.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..686
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..686
                     /product="semaphorin-3F isoform 3"
                     /note="sema domain, immunoglobulin domain (Ig), short
                     basic domain, secreted, 3F; semaphorin III/F; semaphorin
                     IV; sema domain, immunoglobulin domain (Ig), short basic
                     domain, secreted, (semaphorin) 3F"
                     /calculated_mol_wt=77182
     Region          1..449
                     /region_name="Sema_3F"
                     /note="The Sema domain, a protein interacting module, of
                     semaphorin 3F (Sema3F); cd11254"
                     /db_xref="CDD:200515"
     Site            order(37..40,99..100,104,125,127..128,135,145,148..149,
                     151,156,185,208..212,214,330,334,337)
                     /site_type="other"
                     /note="putative plexin binding site [polypeptide binding]"
                     /db_xref="CDD:200515"
     Site            order(186..188,191..193,227,230..231,233,235,239,262..269,
                     295..298,343,358)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:200515"
     Region          448..485
                     /region_name="PSI"
                     /note="domain found in Plexins, Semaphorins and Integrins;
                     smart00423"
                     /db_xref="CDD:214655"
     Region          509..598
                     /region_name="Ig_Sema3"
                     /note="Immunoglobulin (Ig)-like domain of class III
                     semaphorin Sema3; cd05871"
                     /db_xref="CDD:409455"
     Region          509..515
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409455"
     Region          520..528
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409455"
     Site            order(522,567)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:409455"
     Region          534..540
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409455"
     Region          542..545
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409455"
     Region          555..559
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409455"
     Region          562..569
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409455"
     Region          575..584
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409455"
     Region          587..598
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409455"
     CDS             1..686
                     /gene="SEMA3F"
                     /gene_synonym="SEMA-IV; SEMA4; SEMAK"
                     /coded_by="NM_001318798.2:226..2286"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS82780.1"
                     /db_xref="GeneID:6405"
                     /db_xref="HGNC:HGNC:10728"
                     /db_xref="MIM:601124"
ORIGIN      
        1 myvgskdyvl sldlhdinre pliihwaasp qrieecvlsg kdvngecgnf vrliqpwnrt
       61 hlyvcgtgay npmctyvnrg rraqdyifyl eperlesgkg kcpydpkldt asalineely
      121 agvyidfmgt daaifrtlgk qtamrtdqyn srwlndpsfi haelipdsae rnddklyfff
      181 rersaeapqs pavyarigri clnddgghcc lvnkwstflk arlvcsvpge dgiethfdel
      241 qdvfvqqtqd vrnpviyavf tssgsvfrgs avcvysmadi rmvfngpfah kegpnyqwmp
      301 fsgkmpyprp gtcpggtftp smkstkdypd evinfmrshp lmyqavyplq rrplvvrtga
      361 pyrlttiavd qvdaadgrye vlflgtdrgt vqkvivlpkd dqeleelmle evevfkdpap
      421 vktmtisskr qqlyvasavg vthlslhrcq aygaacadcc lardpycawd gqacsrytas
      481 skrrsrrqdv rhgnpirqcr gfnsnankna vesvqygvag saaflecqpr spqatvkwlf
      541 qrdpgdrrre iraedrflrt eqglllralq lsdrglysct atennfkhvv trvqlhvlgr
      601 davhaalfpp lsmsappppg agpptppyqe laqllaqpev glihqycqgy wrhvppspre
      661 apgaprspep qdqkkprnrr hhppdt
//
LOCUS       NP_001354502             127 aa            linear   PRI 25-DEC-2022
DEFINITION  zinc finger protein 138 isoform 9 [Homo sapiens].
ACCESSION   NP_001354502
VERSION     NP_001354502.1
DBSOURCE    REFSEQ: accession NM_001367573.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 127)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 127)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 127)
  AUTHORS   Tommerup N and Vissing H.
  TITLE     Isolation and fine mapping of 16 novel human zinc finger-encoding
            cDNAs identify putative candidate genes for developmental and
            malignant disorders
  JOURNAL   Genomics 27 (2), 259-264 (1995)
   PUBMED   7557990
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073349.11.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.95132.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..127
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.21"
     Protein         1..127
                     /product="zinc finger protein 138 isoform 9"
                     /note="zinc finger protein 138 (clone pHZ-32)"
                     /calculated_mol_wt=13938
     CDS             1..127
                     /gene="ZNF138"
                     /gene_synonym="pHZ-32"
                     /coded_by="NM_001367573.1:142..525"
                     /note="isoform 9 is encoded by transcript variant 11"
                     /db_xref="GeneID:7697"
                     /db_xref="HGNC:HGNC:12922"
                     /db_xref="MIM:604080"
ORIGIN      
        1 msfalvaqag vqwhdlgspq plpldssdfs crsllsswdy rhapprpadf iflvktgflh
       61 vqaglefpts avaftfdlsg lnilsfqsil pfvsalyvmg nrnqclqkhl earnkdlcvl
      121 vlpktfg
//
LOCUS       NP_570966                241 aa            linear   PRI 26-DEC-2022
DEFINITION  WAP four-disulfide core domain protein 8 precursor [Homo sapiens].
ACCESSION   NP_570966
VERSION     NP_570966.2
DBSOURCE    REFSEQ: accession NM_130896.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 241)
  AUTHORS   Ferreira Z, Seixas S, Andres AM, Kretzschmar WW, Mullikin JC,
            Cherukuri PF, Cruz P, Swanson WJ, Clark AG, Green ED and Hurle B.
  CONSRTM   NISC Comparative Sequencing Program
  TITLE     Reproduction and immunity-driven natural selection in the human
            WFDC locus
  JOURNAL   Mol Biol Evol 30 (4), 938-950 (2013)
   PUBMED   23292442
REFERENCE   2  (residues 1 to 241)
  AUTHORS   Ferreira Z, Hurle B, Rocha J and Seixas S.
  TITLE     Differing evolutionary histories of WFDC8 (short-term balancing) in
            Europeans and SPINT4 (incomplete selective sweep) in Africans
  JOURNAL   Mol Biol Evol 28 (10), 2811-2822 (2011)
   PUBMED   21536719
  REMARK    GeneRIF: We propose that the evolution of WFDC8 and SPINT4 has been
            shaped by complex selective scenarios due to the interdependence of
            variant fitness and ecological variables.
REFERENCE   3  (residues 1 to 241)
  AUTHORS   Clauss A, Lilja H and Lundwall A.
  TITLE     The evolution of a genetic locus encoding small serine proteinase
            inhibitors
  JOURNAL   Biochem Biophys Res Commun 333 (2), 383-389 (2005)
   PUBMED   15950183
REFERENCE   4  (residues 1 to 241)
  AUTHORS   Clauss A, Lilja H and Lundwall A.
  TITLE     A locus on human chromosome 20 contains several genes expressing
            protease inhibitor domains with homology to whey acidic protein
  JOURNAL   Biochem J 368 (Pt 1), 233-242 (2002)
   PUBMED   12206714
REFERENCE   5  (residues 1 to 241)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121778.12 and AL031663.2.
            On Jul 26, 2007 this sequence version replaced NP_570966.1.
            
            Summary: This gene encodes a member of the WAP-type four-disulfide
            core (WFDC) domain family. The WFDC domain, or WAP signature motif,
            contains eight cysteines forming four disulfide bonds at the core
            of the protein, and functions as a protease inhibitor. The encoded
            protein contains a Kunitz-inhibitor domain, in addition to three
            WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13
            in two clusters: centromeric and telomeric. This gene belongs to
            the telomeric cluster. Two alternatively spliced transcript
            variants have been found for this gene, and they encode the same
            protein. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (a) represents the shorter
            transcript.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HM005608.1, SRR5189667.371189.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2159931 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000289953.3/ ENSP00000289953.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..241
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     Protein         1..241
                     /product="WAP four-disulfide core domain protein 8
                     precursor"
                     /note="protease inhibitor WAP8; WAP four-disulfide core
                     domain protein 8; WAP motif protein 1; putative protease
                     inhibitor WAP8; epididymis secretory protein Li 292;
                     testicular secretory protein Li 68; epididymis secretory
                     sperm binding protein"
                     /calculated_mol_wt=23470
     sig_peptide     1..38
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=4373
     mat_peptide     39..241
                     /product="WAP four-disulfide core domain protein 8"
                     /calculated_mol_wt=23470
     Region          47..90
                     /region_name="WFDC domain"
     Region          47..90
                     /region_name="WAP"
                     /note="WAP-type (Whey Acidic Protein) 'four-disulfide
                     core'; pfam00095"
                     /db_xref="CDD:425463"
     Region          93..145
                     /region_name="KU"
                     /note="BPTI/Kunitz family of serine protease inhibitors;
                     smart00131"
                     /db_xref="CDD:197529"
     Site            order(101..105,107..109,124,128)
                     /site_type="other"
                     /note="putative serine protease binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438633"
     Region          150..193
                     /region_name="WFDC domain"
     Region          150..190
                     /region_name="WAP"
                     /note="WAP-type (Whey Acidic Protein) 'four-disulfide
                     core'; pfam00095"
                     /db_xref="CDD:425463"
     Site            151..157
                     /site_type="inhibition"
                     /note="inhibitory loop"
                     /db_xref="CDD:238120"
     Region          197..239
                     /region_name="WFDC domain"
     Region          197..239
                     /region_name="WAP"
                     /note="WAP-type (Whey Acidic Protein) 'four-disulfide
                     core'; pfam00095"
                     /db_xref="CDD:425463"
     CDS             1..241
                     /gene="WFDC8"
                     /gene_synonym="C20orf170; dJ461P17.1; HEL-S-292; WAP8"
                     /coded_by="NM_130896.3:38..763"
                     /db_xref="CCDS:CCDS13361.1"
                     /db_xref="GeneID:90199"
                     /db_xref="HGNC:HGNC:16163"
ORIGIN      
        1 mwtvrteggh fplhsptfsw rnvaflllls lalewtsaml tkkikhkpgl cpkerltctt
       61 elpdscntdf dckeyqkccf facqkkcmdp fqepcmlpvr hgncnheaqr whfdfknyrc
      121 tpfkyrgceg nannflneda crtacmlivk dgqcplfpft erkecppsch sdidcpqtdk
      181 ccesrcgfvc arawtvkkgf cprkpllctk idkpkclqde ecplvekccs hcglkcmdpr
      241 r
//
LOCUS       NP_001316773            1186 aa            linear   PRI 26-DEC-2022
DEFINITION  myelin transcription factor 1-like protein isoform 1 [Homo
            sapiens].
ACCESSION   NP_001316773 XP_016859099
VERSION     NP_001316773.1
DBSOURCE    REFSEQ: accession NM_001329844.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1186)
  AUTHORS   Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM,
            Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL,
            Denomme-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E,
            El Chehadeh S, Gerard B, Schaefer E, Cogne B, Isidor B, Nizon M,
            Doummar D, Valence S, Heron D, Keren B, Mignot C, Coutton C,
            Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K,
            Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C,
            Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart
            S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S,
            Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A,
            Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C,
            Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G and Lecoquierre
            F.
  TITLE     MYT1L-associated neurodevelopmental disorder: description of 40 new
            cases and literature review of clinical and molecular aspects
  JOURNAL   Hum Genet 141 (1), 65-80 (2022)
   PUBMED   34748075
  REMARK    GeneRIF: MYT1L-associated neurodevelopmental disorder: description
            of 40 new cases and literature review of clinical and molecular
            aspects.
REFERENCE   2  (residues 1 to 1186)
  AUTHORS   Tabolacci E, Pomponi MG, Remondini L, Pietrobono R, Orteschi D,
            Nobile V, Pucci C, Musto E, Pane M, Mercuri EM, Neri G, Genuardi M,
            Chiurazzi P and Zollino M.
  TITLE     Co-Occurrence of Fragile X Syndrome with a Second Genetic
            Condition: Three Independent Cases of Double Diagnosis
  JOURNAL   Genes (Basel) 12 (12), 1909 (2021)
   PUBMED   34946857
  REMARK    GeneRIF: Co-Occurrence of Fragile X Syndrome with a Second Genetic
            Condition: Three Independent Cases of Double Diagnosis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1186)
  AUTHORS   Yoshimura K, Morita Y, Konomi K, Ishida S, Fujiwara D, Kobayashi K
            and Tanaka M.
  TITLE     A web-based survey on various symptoms of computer vision syndrome
            and the genetic understanding based on a multi-trait genome-wide
            association study
  JOURNAL   Sci Rep 11 (1), 9446 (2021)
   PUBMED   33941792
  REMARK    GeneRIF: A web-based survey on various symptoms of computer vision
            syndrome and the genetic understanding based on a multi-trait
            genome-wide association study.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1186)
  AUTHORS   Marcum RD and Radhakrishnan I.
  TITLE     The neuronal transcription factor Myt1L interacts via a conserved
            motif with the PAH1 domain of Sin3 to recruit the Sin3L/Rpd3L
            histone deacetylase complex
  JOURNAL   FEBS Lett 594 (14), 2322-2330 (2020)
   PUBMED   32391601
  REMARK    GeneRIF: The neuronal transcription factor Myt1L interacts via a
            conserved motif with the PAH1 domain of Sin3 to recruit the
            Sin3L/Rpd3L histone deacetylase complex.
REFERENCE   5  (residues 1 to 1186)
  AUTHORS   Hu J, Ho AL, Yuan L, Hu B, Hua S, Hwang SS, Zhang J, Hu T, Zheng H,
            Gan B, Wu G, Wang YA, Chin L and DePinho RA.
  TITLE     From the Cover: Neutralization of terminal differentiation in
            gliomagenesis
  JOURNAL   Proc Natl Acad Sci U S A 110 (36), 14520-14527 (2013)
   PUBMED   23918370
  REMARK    GeneRIF: Data indicate that reintroduction of A2BP1 or Myt1L in
            glioblastoma multiforme (GBM) cell lines and glioma stem cells
            profoundly inhibited tumorigenesis.
REFERENCE   6  (residues 1 to 1186)
  AUTHORS   Pang ZP, Yang N, Vierbuchen T, Ostermeier A, Fuentes DR, Yang TQ,
            Citri A, Sebastiano V, Marro S, Sudhof TC and Wernig M.
  TITLE     Induction of human neuronal cells by defined transcription factors
  JOURNAL   Nature 476 (7359), 220-223 (2011)
   PUBMED   21617644
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 1186)
  AUTHORS   Wang T, Zeng Z, Li T, Liu J, Li J, Li Y, Zhao Q, Wei Z, Wang Y, Li
            B, Feng G, He L and Shi Y.
  TITLE     Common SNPs in myelin transcription factor 1-like (MYT1L):
            association with major depressive disorder in the Chinese Han
            population
  JOURNAL   PLoS One 5 (10), e13662 (2010)
   PUBMED   21048971
  REMARK    GeneRIF: results indicate that MYT1L may be a potential risk gene
            for major depressive disorder in the Chinese Han population
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 1186)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   9  (residues 1 to 1186)
  AUTHORS   Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I, Strengman E,
            Sabatti C, Geurts van Kessel A, Brunner HG, Ophoff RA and Veltman
            JA.
  CONSRTM   Genetic Risk and Outcome in Psychosis (GROUP) Consortium
  TITLE     Recurrent CNVs disrupt three candidate genes in schizophrenia
            patients
  JOURNAL   Am J Hum Genet 83 (4), 504-510 (2008)
   PUBMED   18940311
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (residues 1 to 1186)
  AUTHORS   Kim JG, Armstrong RC, v Agoston D, Robinsky A, Wiese C, Nagle J and
            Hudson LD.
  TITLE     Myelin transcription factor 1 (Myt1) of the oligodendrocyte
            lineage, along with a closely related CCHC zinc finger, is
            expressed in developing neurons in the mammalian central nervous
            system
  JOURNAL   J Neurosci Res 50 (2), 272-290 (1997)
   PUBMED   9373037
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009232.3, AC008276.4,
            AC011301.9, AC093390.4, AC009471.5 and BC042833.1.
            On Aug 2, 2016 this sequence version replaced XP_016859099.1.
            
            Summary: This gene encodes a member of the zinc finger superfamily
            of transcription factors whose expression, thus far, has been found
            only in neuronal tissues. The encoded protein belongs to a novel
            class of cystein-cystein-histidine-cystein zinc finger proteins
            that function in the developing mammalian central nervous system.
            Forced expression of this gene in combination with the basic
            helix-loop-helix transcription factor NeuroD1 and the transcription
            factors POU class 3 homeobox 2 and achaete-scute family basic
            helix-loop-helix transcription factor 1 can convert fetal and
            postnatal human fibroblasts into induced neuronal cells, which are
            able to generate action potentials. Mutations in this gene have
            been associated with an autosomal dominant form of cognitive
            disability and with autism spectrum disorder. Alternative splicing
            results in multiple variants. [provided by RefSeq, Jul 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.158367.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1186
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.3"
     Protein         1..1186
                     /product="myelin transcription factor 1-like protein
                     isoform 1"
                     /note="neural zinc finger transcription factor 1; myelin
                     transcription factor 1-like protein"
                     /calculated_mol_wt=132913
     Region          1..21
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UL68.3)"
     Region          30..58
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          56..175
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UL68.3)"
     Region          220..247
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UL68.3)"
     Site            250
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97500; propagated from
                     UniProtKB/Swiss-Prot (Q9UL68.3)"
     Region          342..372
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UL68.3)"
     Region          449..513
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UL68.3)"
     Region          505..531
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          549..577
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          624..872
                     /region_name="MYT1"
                     /note="Myelin transcription factor 1; pfam08474"
                     /db_xref="CDD:430017"
     Region          659..709
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UL68.3)"
     Region          753..780
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UL68.3)"
     Region          904..932
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          953..981
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          1006..1034
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          <1033..1185
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1186
                     /gene="MYT1L"
                     /gene_synonym="MRD39; myT1-L; NZF1; ZC2H2C2; ZC2HC4B"
                     /coded_by="NM_001329844.2:906..4466"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS77378.1"
                     /db_xref="GeneID:23040"
                     /db_xref="HGNC:HGNC:7623"
                     /db_xref="MIM:613084"
ORIGIN      
        1 mevdteekrh rtrskgvrvp vepaiqelfs cptpgcdgsg hvsgkyarhr svygcplakk
       61 rktqdkqpqe papkrkpfav kadsssvdec ddsdgtedmd ekeedegeey sedndepgde
      121 deedeegdre eeeeieeede dddedgedve deeeeeeeee eeeeeeened hqmnchntri
      181 mqdtekddnn ndeydnydel vaksllnlgk iaedaayrar tesemnsnts nsleddsdkn
      241 enlgrksels ldldsdvvre tvdslkllaq ghgvvlsenm ndrnyadsms qqdsrnmnyv
      301 mlgkpmnngl mekmveesde evclsslecl rnqcfdlark lsetnpqern pqqnmnirqh
      361 vrpeedfpgr tpdrnysdml nlmrleeqls prsrvfasca kedgcherdd dttsvnsdrs
      421 eevfdmtkgn ltllekaial eterakamre kmameagrrd nmrsyedqsp rqlpgedrkp
      481 kssdshvkkp yygkdpsrte kkeskcptpg cdgtghvtgl yphhrslsgc phkdrvppei
      541 lamhesvlkc ptpgctgrgh vnsnrnshrs lsgcpiaaae klakaqekhq scdvskssqa
      601 sdrvlrpmcf vkqleipqyg yrnnvptttp rsnlakelek ysktsfeyns ydnhtygkra
      661 iapkvqtrdi spkgyddakr yckdpspsss stssyapsss snlscgggss asstcskssf
      721 dythdmeaah maatailnls trcrempqnl stkpqdlcat rnpdmevden gtldlsmnkq
      781 rprdsccpil tplepmspqq qavmnnrcfq lgegdcwdlp vdytkmkprr idedeskdit
      841 pedldpfqea leerrypgev tipspkpkyp qckeskkdli tlsgcpladk sirsmlatss
      901 qelkcptpgc dgsghitgny ashrslsgcp rakksgiria qskedkedqe pircpvpgcd
      961 gqghitgkya shrsasgcpl aakrqkdgyl ngsqfswksv ktegmscptp gcdgsghvsg
     1021 sflthrslsg cpratsamkk aklsgeqmlt ikqrasngie ndeeikqlde eikelnesns
     1081 qmeadmiklr tqittmesnl ktieeenkvi eqqnesllhe lanlsqslih slaniqlphm
     1141 dpineqnfda yvttltemyt nqdryqspen kallenikqa vrgiqv
//
LOCUS       NP_001308165            1240 aa            linear   PRI 26-DEC-2022
DEFINITION  misshapen-like kinase 1 isoform 5 [Homo sapiens].
ACCESSION   NP_001308165 XP_011522210
VERSION     NP_001308165.1
DBSOURCE    REFSEQ: accession NM_001321236.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1240)
  AUTHORS   Daulat AM, Wagner MS, Audebert S, Kowalczewska M, Ariey-Bonnet J,
            Finetti P, Bertucci F, Camoin L and Borg JP.
  TITLE     The serine/threonine kinase MINK1 directly regulates the function
            of promigratory proteins
  JOURNAL   J Cell Sci 135 (17) (2022)
   PUBMED   35971817
  REMARK    GeneRIF: The serine/threonine kinase MINK1 directly regulates the
            function of promigratory proteins.
REFERENCE   2  (residues 1 to 1240)
  AUTHORS   Eisfeldt J, Schuy J, Stattin EL, Kvarnung M, Falk A, Feuk L and
            Lindstrand A.
  TITLE     Multi-Omic Investigations of a 17-19 Translocation Links MINK1
            Disruption to Autism, Epilepsy and Osteoporosis
  JOURNAL   Int J Mol Sci 23 (16), 9392 (2022)
   PUBMED   36012658
  REMARK    GeneRIF: Multi-Omic Investigations of a 17-19 Translocation Links
            MINK1 Disruption to Autism, Epilepsy and Osteoporosis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1240)
  AUTHORS   Zhang J, Lei H and Li X.
  TITLE     LncRNA SNHG14 contributes to proinflammatory cytokine production in
            rheumatoid arthritis via the regulation of the miR-17-5p/MINK1-JNK
            pathway
  JOURNAL   Environ Toxicol 36 (12), 2484-2492 (2021)
   PUBMED   34529319
  REMARK    GeneRIF: LncRNA SNHG14 contributes to proinflammatory cytokine
            production in rheumatoid arthritis via the regulation of the
            miR-17-5p/MINK1-JNK pathway.
REFERENCE   4  (residues 1 to 1240)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   5  (residues 1 to 1240)
  AUTHORS   Popow O, Paulo JA, Tatham MH, Volk MS, Rojas-Fernandez A, Loyer N,
            Newton IP, Januschke J, Haigis KM and Nathke I.
  TITLE     Identification of Endogenous Adenomatous Polyposis Coli Interaction
            Partners and beta-Catenin-Independent Targets by Proteomics
  JOURNAL   Mol Cancer Res 17 (9), 1828-1841 (2019)
   PUBMED   31160382
  REMARK    GeneRIF: Results find MINK1 interacting with full-length and
            truncated APC. Its is negatively regulated by APC independently of
            b-catenin. MINK1 localizes to cell-cell junctions and enhances cell
            adhesion and proliferation.
REFERENCE   6  (residues 1 to 1240)
  AUTHORS   Fatini C, Sticchi E, Genuardi M, Sofi F, Gensini F, Gori AM, Lenti
            M, Michelucci A, Abbate R and Gensini GF.
  TITLE     Analysis of minK and eNOS genes as candidate loci for
            predisposition to non-valvular atrial fibrillation
  JOURNAL   Eur Heart J 27 (14), 1712-1718 (2006)
   PUBMED   16760206
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 1240)
  AUTHORS   Hu Y, Leo C, Yu S, Huang BC, Wang H, Shen M, Luo Y, Daniel-Issakani
            S, Payan DG and Xu X.
  TITLE     Identification and functional characterization of a novel human
            misshapen/Nck interacting kinase-related kinase, hMINK beta
  JOURNAL   J Biol Chem 279 (52), 54387-54397 (2004)
   PUBMED   15469942
  REMARK    GeneRIF: results suggest that human Misshapen/NIKs-related kinase
            beta (hMINK beta) plays an important role in cytoskeleton
            reorganization, cell adhesion, and cell motility(hMINKbeta)
            Erratum:[J Biol Chem. 2005 Feb 11;280(6):5128]
REFERENCE   8  (residues 1 to 1240)
  AUTHORS   Campdelacreu J, Ezquerra M, Munoz E, Oliva R and Tolosa E.
  TITLE     Mutational study of the nuclear factor kappa B inducing kinase gene
            in patients with progressive supranuclear palsy
  JOURNAL   Neurosci Lett 340 (2), 158-160 (2003)
   PUBMED   12668260
  REMARK    GeneRIF: Analysis of the coding region of the NIK gene in
            progressive supranuclear palsy (PSP) patients through single strand
            conformation polymorphism and direct sequencing does not support a
            pathogenic role of the NIK gene in PSP.
REFERENCE   9  (residues 1 to 1240)
  AUTHORS   Dan I, Watanabe NM, Kajikawa E, Ishida T, Pandey A and Kusumi A.
  TITLE     Overlapping of MINK and CHRNE gene loci in the course of mammalian
            evolution
  JOURNAL   Nucleic Acids Res 30 (13), 2906-2910 (2002)
   PUBMED   12087176
REFERENCE   10 (residues 1 to 1240)
  AUTHORS   Dan I, Watanabe NM, Kobayashi T, Yamashita-Suzuki K, Fukagaya Y,
            Kajikawa E, Kimura WK, Nakashima TM, Matsumoto K, Ninomiya-Tsuji J
            and Kusumi A.
  TITLE     Molecular cloning of MINK, a novel member of mammalian GCK family
            kinases, which is up-regulated during postnatal mouse cerebral
            development
  JOURNAL   FEBS Lett 469 (1), 19-23 (2000)
   PUBMED   10708748
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA653105.1, BC094686.1,
            AB041926.1 and AL157418.1.
            On Mar 18, 2016 this sequence version replaced XP_011522210.1.
            
            Summary: This gene encodes a serine/threonine kinase belonging to
            the germinal center kinase (GCK) family. The protein is
            structurally similar to the kinases that are related to NIK and may
            belong to a distinct subfamily of NIK-related kinases within the
            GCK family. Studies of the mouse homolog indicate an up-regulation
            of expression in the course of postnatal mouse cerebral development
            and activation of the cJun N-terminal kinase (JNK) and the p38
            pathways. [provided by RefSeq, Mar 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC094686.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     Protein         1..1240
                     /product="misshapen-like kinase 1 isoform 5"
                     /EC_number="2.7.11.1"
                     /note="misshapen/NIK-related kinase; GCK family kinase
                     MINK; MEK kinase kinase 6; MAPK/ERK kinase kinase kinase
                     6; mitogen-activated protein kinase kinase kinase kinase
                     6"
                     /calculated_mol_wt=139883
     Region          1..234
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          453..>709
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          922..1220
                     /region_name="CNH"
                     /note="Domain found in NIK1-like kinases, mouse citron and
                     yeast ROM1, ROM2; smart00036"
                     /db_xref="CDD:214481"
     CDS             1..1240
                     /gene="MINK1"
                     /gene_synonym="B55; MAP4K6; MEKKK 6; MINK; YSK2; ZC3"
                     /coded_by="NM_001321236.2:526..4248"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:50488"
                     /db_xref="HGNC:HGNC:17565"
                     /db_xref="MIM:609426"
ORIGIN      
        1 mdvtedeeee ikqeinmlkk yshhrniaty ygafikkspp gnddqlwlvm efcgagsvtd
       61 lvkntkgnal kedciayicr eilrglahlh ahkvihrdik gqnvlltena evklvdfgvs
      121 aqldrtvgrr ntfigtpywm apeviacden pdatydyrsd iwslgitaie maegapplcd
      181 mhpmralfli prnppprlks kkwskkfidf idtcliktyl srppteqllk fpfirdqpte
      241 rqvriqlkdh idrsrkkrge keeteyeysg seeeddshge egepssimnv pgestlrref
      301 lrlqqenksn sealkqqqql qqqqqrdpea hikhllhqrq rrieeqkeer rrveeqqrre
      361 reqrklqeke qqrrledmqa lrreeerrqa ereqeykrkq leeqrqserl qrqlqqehay
      421 lkslqqqqqq qqlqkqqqqq llpgdrkply hygrgmnpad kpawarevee rtrmnkqqns
      481 plakskpgst gpeppipqas pgppgplsqt ppmqrpvepq egphkslvah rvplkpyaap
      541 vprsqslqdq ptrnlaafpa shdpdpaipa ptatpsarga virqnsdpts egpgpspnpp
      601 awvrpdneap pkvpqrtssi atalntsgag gsrpaqavra snpdlrrsdp gwersdsvlp
      661 ashghlpqag slernrvgvs skpdsspvls pgnkakpddh rsrpgrpadf vllkertlde
      721 aprppkkamd ysssseeves seddeeegeg gpaegsrdtp ggrsdgdtds vstmvvhdve
      781 eitgtqppyg ggtmvvqrtp eeernllhad sngytnlpdv vqpshspten skgqsppskd
      841 gsgdyqsrgl vkapgkssft mfvdlgiyqp ggsgdsipit alvggegtrl dqlqydvrkg
      901 svvnvnptnt rahsetpeir kykkrfnsei lcaalwgvnl lvgtenglml ldrsgqgkvy
      961 gligrrrfqq mdvleglnll itisgkrnkl rvyylswlrn kilhndpeve kkqgwttvgd
     1021 megcghyrvv kyerikflvi alkssvevya wapkpyhkfm afksfadlph rpllvdltve
     1081 egqrlkviyg ssagfhavdv dsgnsydiyi pvhiqsqitp haiiflpntd gmemllcyed
     1141 egvyvntygr iikdvvlqwg emptsvayic snqimgwgek aieirsvetg hldgvfmhkr
     1201 aqrlkflcer ndkvffasvr sggssqvyfm tlnrncimnw
//
LOCUS       NP_001276914             850 aa            linear   PRI 28-DEC-2022
DEFINITION  E3 ubiquitin-protein ligase Jade-2 isoform 2 [Homo sapiens].
ACCESSION   NP_001276914 XP_005271999
VERSION     NP_001276914.1
DBSOURCE    REFSEQ: accession NM_001289985.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 850)
  AUTHORS   Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C,
            Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T,
            Cousminer DL, Feenstra B, Franceschini N, Ganna A, Johnson AD,
            Kjellqvist S, Lunetta KL, McMahon G, Nolte IM, Paternoster L, Porcu
            E, Smith AV, Stolk L, Teumer A, Tsernikova N, Tikkanen E, Ulivi S,
            Wagner EK, Amin N, Bierut LJ, Byrne EM, Hottenga JJ, Koller DL,
            Mangino M, Pers TH, Yerges-Armstrong LM, Zhao JH, Andrulis IL,
            Anton-Culver H, Atsma F, Bandinelli S, Beckmann MW, Benitez J,
            Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H,
            Buring JE, Chang-Claude J, Chanock S, Chen J, Chenevix-Trench G,
            Collee JM, Couch FJ, Couper D, Coveillo AD, Cox A, Czene K, D'adamo
            AP, Smith GD, De Vivo I, Demerath EW, Dennis J, Devilee P,
            Dieffenbach AK, Dunning AM, Eiriksdottir G, Eriksson JG, Fasching
            PA, Ferrucci L, Flesch-Janys D, Flyger H, Foroud T, Franke L,
            Garcia ME, Garcia-Closas M, Geller F, de Geus EE, Giles GG,
            Gudbjartsson DF, Gudnason V, Guenel P, Guo S, Hall P, Hamann U,
            Haring R, Hartman CA, Heath AC, Hofman A, Hooning MJ, Hopper JL, Hu
            FB, Hunter DJ, Karasik D, Kiel DP, Knight JA, Kosma VM, Kutalik Z,
            Lai S, Lambrechts D, Lindblom A, Magi R, Magnusson PK, Mannermaa A,
            Martin NG, Masson G, McArdle PF, McArdle WL, Melbye M, Michailidou
            K, Mihailov E, Milani L, Milne RL, Nevanlinna H, Neven P, Nohr EA,
            Oldehinkel AJ, Oostra BA, Palotie A, Peacock M, Pedersen NL,
            Peterlongo P, Peto J, Pharoah PD, Postma DS, Pouta A, Pylkas K,
            Radice P, Ring S, Rivadeneira F, Robino A, Rose LM, Rudolph A,
            Salomaa V, Sanna S, Schlessinger D, Schmidt MK, Southey MC, Sovio
            U, Stampfer MJ, Stockl D, Storniolo AM, Timpson NJ, Tyrer J, Visser
            JA, Vollenweider P, Volzke H, Waeber G, Waldenberger M,
            Wallaschofski H, Wang Q, Willemsen G, Winqvist R, Wolffenbuttel BH,
            Wright MJ, Boomsma DI, Econs MJ, Khaw KT, Loos RJ, McCarthy MI,
            Montgomery GW, Rice JP, Streeten EA, Thorsteinsdottir U, van Duijn
            CM, Alizadeh BZ, Bergmann S, Boerwinkle E, Boyd HA, Crisponi L,
            Gasparini P, Gieger C, Harris TB, Ingelsson E, Jarvelin MR, Kraft
            P, Lawlor D, Metspalu A, Pennell CE, Ridker PM, Snieder H, Sorensen
            TI, Spector TD, Strachan DP, Uitterlinden AG, Wareham NJ, Widen E,
            Zygmunt M, Murray A, Easton DF, Stefansson K, Murabito JM and Ong
            KK.
  CONSRTM   Australian Ovarian Cancer Study; GENICA Network; kConFab; LifeLines
            Cohort Study; InterAct Consortium; Early Growth Genetics (EGG)
            Consortium
  TITLE     Parent-of-origin-specific allelic associations among 106 genomic
            loci for age at menarche
  JOURNAL   Nature 514 (7520), 92-97 (2014)
   PUBMED   25231870
REFERENCE   2  (residues 1 to 850)
  AUTHORS   Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB,
            Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G,
            Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J,
            Graslund S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ
            and Greenblatt J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
REFERENCE   3  (residues 1 to 850)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   4  (residues 1 to 850)
  AUTHORS   Kim SC, Sprung R, Chen Y, Xu Y, Ball H, Pei J, Cheng T, Kho Y, Xiao
            H, Xiao L, Grishin NV, White M, Yang XJ and Zhao Y.
  TITLE     Substrate and functional diversity of lysine acetylation revealed
            by a proteomics survey
  JOURNAL   Mol Cell 23 (4), 607-618 (2006)
   PUBMED   16916647
REFERENCE   5  (residues 1 to 850)
  AUTHORS   Doyon Y, Cayrou C, Ullah M, Landry AJ, Cote V, Selleck W, Lane WS,
            Tan S, Yang XJ and Cote J.
  TITLE     ING tumor suppressor proteins are critical regulators of chromatin
            acetylation required for genome expression and perpetuation
  JOURNAL   Mol Cell 21 (1), 51-64 (2006)
   PUBMED   16387653
REFERENCE   6  (residues 1 to 850)
  AUTHORS   Tzouanacou E, Tweedie S and Wilson V.
  TITLE     Identification of Jade1, a gene encoding a PHD zinc finger protein,
            in a gene trap mutagenesis screen for genes involved in
            anteroposterior axis development
  JOURNAL   Mol Cell Biol 23 (23), 8553-8562 (2003)
   PUBMED   14612400
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK056471.1 and BN000288.1.
            On Feb 20, 2014 this sequence version replaced XP_005271999.1.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in 5' terminal exon that results in translation initiation at an
            alternate start codon, and it also contains an additional in-frame
            exon in the 3' coding region, compared to variant 1. The encoded
            isoform (2) is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056471.1, SRR14038191.2384694.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..850
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     Protein         1..850
                     /product="E3 ubiquitin-protein ligase Jade-2 isoform 2"
                     /EC_number="2.3.2.27"
                     /note="PHD finger protein 15; jade family PHD finger
                     protein 2; E3 ubiquitin-protein ligase Jade-2"
                     /calculated_mol_wt=93483
     Region          26..191
                     /region_name="EPL1"
                     /note="Enhancer of polycomb-like; pfam10513"
                     /db_xref="CDD:431331"
     Region          153..>522
                     /region_name="COG5141"
                     /note="PHD zinc finger-containing protein [General
                     function prediction only]"
                     /db_xref="CDD:227470"
     Region          270..380
                     /region_name="ePHD_JADE2"
                     /note="Extended PHD finger found in protein Jade-2 and
                     similar proteins; cd15705"
                     /db_xref="CDD:277175"
     Site            order(326,336..340,346,375)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277175"
     Region          <641..845
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     CDS             1..850
                     /gene="JADE2"
                     /gene_synonym="JADE-2; PHF15"
                     /coded_by="NM_001289985.2:26..2578"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:23338"
                     /db_xref="HGNC:HGNC:22984"
                     /db_xref="MIM:610515"
ORIGIN      
        1 mvptaaiavg gyflggmeek rrkysissdn sdttdshats tsasrcsklp sstksgwprq
       61 nekkpsevfr tdlitamkip dsyqlspddy yiladpwrqe wekgvqvpag aeaipepvvr
      121 ilpplegppa qaspsstmlg egsqpdwpgg srydldeida ywlelinsel kemerpelde
      181 ltlervleel etlchqnmar aietqeglgi eydedvvcdv crspegedgn emvfcdkcnv
      241 cvhqacygil kvptgswlcr tcalgvqpkc llcpkrggal kptrsgtkwv hvscalwipe
      301 vsigcpekme pitkishipa srwalscslc kectgtciqc smpscvtafh vtcafdhgle
      361 mrtiladnde vkfksfcqeh sdggprnept septepsqag edlekvtlrk qrlqqleedf
      421 yelvepaeva erldlaealv dfiyqywklk rkananqpll tpktdevdnl aqqeqdvlyr
      481 rlklfthlrq dlervrnlcy mvtrrertkh aicklqeqif hlqmklieqd lcrersgrra
      541 kgkksdskrk gcegskgste kkekvkagpd svlgqlagls tsfpidgtff nswlaqsvqi
      601 taenmamsew plnnghredp apgllseell qdeetllsfm rdpslrpgdp arkargrtrl
      661 pakkkppppp pqdgpgsrtt pdkapkktwg qdagsgkggq gpptrkpprr tsshlpsspa
      721 agdcpilatp esppplapet pdeaasvaad sdvqvpgpaa spkplgrlrp preskvtrrl
      781 pgarpdagmg ppsavaerpk vslhfdtetd gyfsdgemsd sdveaedggv qrgpreagae
      841 evvrmgvlas
//
LOCUS       NP_001335074             153 aa            linear   PRI 29-DEC-2022
DEFINITION  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform
            5 [Homo sapiens].
ACCESSION   NP_001335074
VERSION     NP_001335074.1
DBSOURCE    REFSEQ: accession NM_001348145.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 153)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   2  (residues 1 to 153)
  AUTHORS   St-Denis N, Gupta GD, Lin ZY, Gonzalez-Badillo B, Veri AO, Knight
            JDR, Rajendran D, Couzens AL, Currie KW, Tkach JM, Cheung SWT,
            Pelletier L and Gingras AC.
  TITLE     Phenotypic and Interaction Profiling of the Human Phosphatases
            Identifies Diverse Mitotic Regulators
  JOURNAL   Cell Rep 17 (9), 2488-2501 (2016)
   PUBMED   27880917
REFERENCE   3  (residues 1 to 153)
  AUTHORS   Chen GI, Tisayakorn S, Jorgensen C, D'Ambrosio LM, Goudreault M and
            Gingras AC.
  TITLE     PP4R4/KIAA1622 forms a novel stable cytosolic complex with
            phosphoprotein phosphatase 4
  JOURNAL   J Biol Chem 283 (43), 29273-29284 (2008)
   PUBMED   18715871
  REMARK    GeneRIF: PP4R4 forms a novel cytosolic complex with PP4c,
            independent from the complexes containing PP4R1, PP4R2.PP4R3, and
            alpha4, and the regulatory subunits of PP4c have evolved different
            modes of interaction with the catalytic subunit
REFERENCE   4  (residues 1 to 153)
  AUTHORS   Namciu SJ, Friedman RD, Marsden MD, Sarausad LM, Jasoni CL and
            Fournier RE.
  TITLE     Sequence organization and matrix attachment regions of the human
            serine protease inhibitor gene cluster at 14q32.1
  JOURNAL   Mamm Genome 15 (3), 162-178 (2004)
   PUBMED   15014966
REFERENCE   5  (residues 1 to 153)
  AUTHORS   Andrade MA, Petosa C, O'Donoghue SI, Muller CW and Bork P.
  TITLE     Comparison of ARM and HEAT protein repeats
  JOURNAL   J Mol Biol 309 (1), 1-18 (2001)
   PUBMED   11491282
  REMARK    Review article
REFERENCE   6  (residues 1 to 153)
  AUTHORS   Groves MR, Hanlon N, Turowski P, Hemmings BA and Barford D.
  TITLE     The structure of the protein phosphatase 2A PR65/A subunit reveals
            the conformation of its 15 tandemly repeated HEAT motifs
  JOURNAL   Cell 96 (1), 99-110 (1999)
   PUBMED   9989501
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121838.4 and AL117259.6.
            
            Summary: The protein encoded by this gene is a HEAT-like
            repeat-containing protein. The HEAT repeat is a tandemly repeated,
            37-47 amino acid long module occurring in a number of cytoplasmic
            proteins. Arrays of HEAT repeats form a rod-like helical structure
            and appear to function as protein-protein interaction surfaces. The
            repeat-containing region of this protein has some similarity to the
            constant regulatory domain of the protein phosphatase 2A PR65/A
            subunit. The encoded protein binds protein serine/threonine
            phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.3228940.1,
                                           SRR18074967.849376.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..153
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12-q32.13"
     Protein         1..153
                     /product="serine/threonine-protein phosphatase 4
                     regulatory subunit 4 isoform 5"
                     /note="HEAT-like repeat-containing protein;
                     serine/threonine-protein phosphatase 4 regulatory subunit
                     4; cilia and flagella associated protein 14"
                     /calculated_mol_wt=17325
     CDS             1..153
                     /gene="PPP4R4"
                     /gene_synonym="CFAP14; KIAA1622; PP4R4"
                     /coded_by="NM_001348145.2:145..606"
                     /note="isoform 5 is encoded by transcript variant 6"
                     /db_xref="GeneID:57718"
                     /db_xref="HGNC:HGNC:23788"
                     /db_xref="MIM:616790"
ORIGIN      
        1 mhppppaaam dfsqnslfgy medlqeltii erpvrrslkt peeierltvd edlsdierav
       61 yllsagqdvq gtsvianlpf lmrqnptetl rrvlpkvrcl prsmrmhtyl sreygshicl
      121 srgcdsveen tycgqsqmlk saqqeknpnp dkt
//
LOCUS       NP_001154875             341 aa            linear   PRI 29-DEC-2022
DEFINITION  LIM and senescent cell antigen-like-containing domain protein 2
            isoform 3 [Homo sapiens].
ACCESSION   NP_001154875
VERSION     NP_001154875.1
DBSOURCE    REFSEQ: accession NM_001161403.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 341)
  AUTHORS   Wang J and Zhang S.
  TITLE     Fluid shear stress modulates endothelial inflammation by targeting
            LIMS2
  JOURNAL   Exp Biol Med (Maywood) 245 (18), 1656-1663 (2020)
   PUBMED   32752897
  REMARK    GeneRIF: Fluid shear stress modulates endothelial inflammation by
            targeting LIMS2.
REFERENCE   2  (residues 1 to 341)
  AUTHORS   Xu H, Cao H and Xiao G.
  TITLE     Signaling via PINCH: Functions, binding partners and implications
            in human diseases
  JOURNAL   Gene 594 (1), 10-15 (2016)
   PUBMED   27590440
  REMARK    GeneRIF: Mammalian cells have two functional PINCH proteins, PINCH1
            and PINCH2. PINCH not only binds to Nck2 and engages in the
            signaling of growth factor receptors, but also forms a ternary
            complex with ILK and parvin (IPP complex).
            Review article
REFERENCE   3  (residues 1 to 341)
  AUTHORS   Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C,
            Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB,
            Dojeiji S, Zhang M, Majewski J, Bulman DE, Boycott KM and Dyment
            DA.
  CONSRTM   FORGE Canada Consortium
  TITLE     LIMS2 mutations are associated with a novel muscular dystrophy,
            severe cardiomyopathy and triangular tongues
  JOURNAL   Clin Genet 88 (6), 558-564 (2015)
   PUBMED   25589244
  REMARK    GeneRIF: Data indicate compound heterozygous missense mutations
            that are predicted to be pathogenic in LIM and senescent cell
            antigen-like domains 2 protein (LIMS2).
REFERENCE   4  (residues 1 to 341)
  AUTHORS   Park CH, Rha SY, Ahn JB, Shin SJ, Kwon WS, Kim TS, An S, Kim NK,
            Yang WI and Chung HC.
  TITLE     PINCH-2 presents functional copy number variation and suppresses
            migration of colon cancer cells by paracrine activity
  JOURNAL   Int J Cancer 136 (10), 2273-2283 (2015)
   PUBMED   25346044
  REMARK    GeneRIF: Results defined the functional role of copy number
            variations involving PINCH-2 in cancer progression based on the
            field cancerization effect; cell migration and invasion through
            autocrine and paracrine function as part of the field cancerization
            effect.
REFERENCE   5  (residues 1 to 341)
  AUTHORS   Kuo JC, Han X, Hsiao CT, Yates JR 3rd and Waterman CM.
  TITLE     Analysis of the myosin-II-responsive focal adhesion proteome
            reveals a role for beta-Pix in negative regulation of focal
            adhesion maturation
  JOURNAL   Nat Cell Biol 13 (4), 383-393 (2011)
   PUBMED   21423176
REFERENCE   6  (residues 1 to 341)
  AUTHORS   Shi X, Qu H, Kretzler M and Wu C.
  TITLE     Roles of PINCH-2 in regulation of glomerular cell shape change and
            fibronectin matrix deposition
  JOURNAL   Am J Physiol Renal Physiol 295 (1), F253-F263 (2008)
   PUBMED   18480182
REFERENCE   7  (residues 1 to 341)
  AUTHORS   Liu Y, Liu J, Chen J, Cheng L, Cao Q, Zhu L, Sun Y, Liu Q and Li J.
  TITLE     Molecular cloning and characterization of a novel splice variant of
            the LIM domain family gene, PINCH 2, in human testis
  JOURNAL   Mol Biotechnol 35 (2), 109-118 (2007)
   PUBMED   17435276
REFERENCE   8  (residues 1 to 341)
  AUTHORS   Kim SK, Jang HR, Kim JH, Noh SM, Song KS, Kim MR, Kim SY, Yeom YI,
            Kim NS, Yoo HS and Kim YS.
  TITLE     The epigenetic silencing of LIMS2 in gastric cancer and its
            inhibitory effect on cell migration
  JOURNAL   Biochem Biophys Res Commun 349 (3), 1032-1040 (2006)
   PUBMED   16959213
  REMARK    GeneRIF: LIMS2 may be useful as a molecular biomarker and a
            therapeutic target by increasing its expression and activity in
            gastric cancer
REFERENCE   9  (residues 1 to 341)
  AUTHORS   Zhang Y, Chen K, Guo L and Wu C.
  TITLE     Characterization of PINCH-2, a new focal adhesion protein that
            regulates the PINCH-1-ILK interaction, cell spreading, and
            migration
  JOURNAL   J Biol Chem 277 (41), 38328-38338 (2002)
   PUBMED   12167643
  REMARK    GeneRIF: These results identify a novel nuclear and focal adhesion
            protein that associates with ILK and reveals an important role of
            PINCH-2 in the regulation of the PINCH-1-ILK interaction, cell
            shape change, and migration.
REFERENCE   10 (residues 1 to 341)
  AUTHORS   Tu Y, Huang Y, Zhang Y, Hua Y and Wu C.
  TITLE     A new focal adhesion protein that interacts with integrin-linked
            kinase and regulates cell adhesion and spreading
  JOURNAL   J Cell Biol 153 (3), 585-598 (2001)
   PUBMED   11331308
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC074114.6, DR006887.1,
            BC065816.1 and AC010976.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of a small family of focal
            adhesion proteins which interacts with ILK (integrin-linked
            kinase), a protein which effects protein-protein interactions with
            the extraceullar matrix. The encoded protein has five LIM domains,
            each domain forming two zinc fingers, which permit interactions
            which regulate cell shape and migration. A pseudogene of this gene
            is located on chromosome 4. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Nov 2011].
            
            Transcript Variant: This variant (3) lacks an in-frame exon in the
            5' coding region compared to variant 1. The encoded isoform (3) is
            shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF527765.1, BC065816.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355119.9/ ENSP00000347240.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..341
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.3"
     Protein         1..341
                     /product="LIM and senescent cell antigen-like-containing
                     domain protein 2 isoform 3"
                     /note="LIM and senescent cell antigen-like-containing
                     domain protein 2; LIM and senescent cell antigen-like
                     domains 2; LIM-type zinc finger domains 2; ILK-binding
                     protein; particularly interesting new Cys-His protein 2"
                     /calculated_mol_wt=38785
     Region          15..73
                     /region_name="LIM1_PINCH"
                     /note="The first LIM domain of protein PINCH; cd09331"
                     /db_xref="CDD:188717"
     Site            order(15,18,37,40,43,46,64,67)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188717"
     Site            order(17..18,20,42,44..48,58..59,61,66..67,69..73)
                     /site_type="other"
                     /note="ILK binding interface"
                     /db_xref="CDD:188717"
     Site            22
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4I7.1)"
     Region          76..127
                     /region_name="LIM2_PINCH"
                     /note="The second LIM domain of protein PINCH; cd09332"
                     /db_xref="CDD:188718"
     Site            order(76,79,96,99,102,105,123,126)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188718"
     Region          140..190
                     /region_name="LIM3_PINCH"
                     /note="The third LIM domain of protein PINCH; cd09333"
                     /db_xref="CDD:188719"
     Site            order(140,143,160,163,166,169,186,189)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188719"
     Region          196..249
                     /region_name="LIM4_PINCH"
                     /note="The fourth LIM domain of protein PINCH; cd09334"
                     /db_xref="CDD:188720"
     Site            order(197,201..204)
                     /site_type="other"
                     /note="N(i)ck binding interface"
                     /db_xref="CDD:188720"
     Site            order(198,201,218,221,224,227,245,248)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188720"
     Region          257..310
                     /region_name="LIM5_PINCH"
                     /note="The fifth LIM domain of protein PINCH; cd09335"
                     /db_xref="CDD:188721"
     Site            order(257,260,277,280,283,286,305,308)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188721"
     Site            327
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4I7.1)"
     Site            328
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4I7.1)"
     CDS             1..341
                     /gene="LIMS2"
                     /gene_synonym="LGMD2W; MDRCMTT; PINCH-2; PINCH2"
                     /coded_by="NM_001161403.3:507..1532"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS54395.1"
                     /db_xref="GeneID:55679"
                     /db_xref="HGNC:HGNC:16084"
                     /db_xref="MIM:607908"
ORIGIN      
        1 mtgsnmsdal anavcqrcqa rfspaerivn sngelyhehc fvcaqcfrpf peglfyefeg
       61 rkycehdfqm lfapccgscg efiigrvika mnnnwhpgcf rcelcdvela dlgfvknagr
      121 hlcrpchnre kakglgkyic qrchlvideq plmfrsdayh pdhfncthcg keltaearel
      181 kgelyclpch dkmgvpicga crrpiegrvv nalgkqwhve hfvcakcekp flghrhyekk
      241 glaycethyn qlfgdvcync shviegdvvs alnkawcvsc fscstcnskl tlknkfvefd
      301 mkpvckrcye kfplelkkrl kklseltsrk aqpkatdlns a
//
LOCUS       NP_001192258             259 aa            linear   PRI 30-DEC-2022
DEFINITION  junctional adhesion molecule C isoform 2 precursor [Homo sapiens].
ACCESSION   NP_001192258
VERSION     NP_001192258.1
DBSOURCE    REFSEQ: accession NM_001205329.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 259)
  AUTHORS   Yang W, Guo C, Herman JG, Zhu C, Lv H, Su X, Zhang L, Zhang M and
            Guo M.
  TITLE     Epigenetic silencing of JAM3 promotes esophageal cancer development
            by activating Wnt signaling
  JOURNAL   Clin Epigenetics 14 (1), 164 (2022)
   PUBMED   36461092
  REMARK    GeneRIF: Epigenetic silencing of JAM3 promotes esophageal cancer
            development by activating Wnt signaling.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 259)
  AUTHORS   Chen CP, Wang LK, Chen CY, Chen CY, Kuo YH and Wu YH.
  TITLE     Decreased junctional adhesion molecule 3 expression induces
            reactive oxygen species production and apoptosis in
            trophoblastsdagger
  JOURNAL   Biol Reprod 107 (5), 1264-1278 (2022)
   PUBMED   35871541
  REMARK    GeneRIF: Decreased junctional adhesion molecule 3 expression
            induces reactive oxygen species production and apoptosis in
            trophoblastsdagger.
REFERENCE   3  (residues 1 to 259)
  AUTHORS   Zhang J, Liu Z and Dong Y.
  TITLE     miR-127-5p Targets JAM3 to Regulate Ferroptosis, Proliferation, and
            Metastasis in Malignant Meningioma Cells
  JOURNAL   Dis Markers 2022, 6423237 (2022)
   PUBMED   35818586
  REMARK    GeneRIF: miR-127-5p Targets JAM3 to Regulate Ferroptosis,
            Proliferation, and Metastasis in Malignant Meningioma Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 259)
  AUTHORS   Brandl A, Solimando AG, Mokhtari Z, Tabares P, Medler J, Manz H, Da
            Via MC, Croci GA, Kurzwart M, Thusek S, Schneider T, Ebert R, Jakob
            F, Einsele H and Beilhack A.
  TITLE     Junctional adhesion molecule C expression specifies a CD138low/neg
            multiple myeloma cell population in mice and humans
  JOURNAL   Blood Adv 6 (7), 2195-2206 (2022)
   PUBMED   34861679
  REMARK    GeneRIF: Junctional adhesion molecule C expression specifies a
            CD138low/neg multiple myeloma cell population in mice and humans.
REFERENCE   5  (residues 1 to 259)
  AUTHORS   Cao C, Dai Y, Wang Z, Zhao G, Duan H, Zhu X, Wang J, Zheng M, Weng
            Q, Wang L, Gou W, Zhang H, Li C, Liu D and Hu Y.
  TITLE     The role of junctional adhesion molecule-C in trophoblast
            differentiation and function during normal pregnancy and
            preeclampsia
  JOURNAL   Placenta 118, 55-65 (2022)
   PUBMED   35032792
  REMARK    GeneRIF: The role of junctional adhesion molecule-C in trophoblast
            differentiation and function during normal pregnancy and
            preeclampsia.
REFERENCE   6  (residues 1 to 259)
  AUTHORS   Cunningham SA, Rodriguez JM, Arrate MP, Tran TM and Brock TA.
  TITLE     JAM2 interacts with alpha4beta1. Facilitation by JAM3
  JOURNAL   J Biol Chem 277 (31), 27589-27592 (2002)
   PUBMED   12070135
  REMARK    GeneRIF: Facilitates JAM2 interaction with alpha4beta1
            GeneRIF: Functions as a facilitator for JAM2/alpha4beta1
            interactions
REFERENCE   7  (residues 1 to 259)
  AUTHORS   Phillips HM, Renforth GL, Spalluto C, Hearn T, Curtis AR, Craven L,
            Havarani B, Clement-Jones M, English C, Stumper O, Salmon T,
            Hutchinson S, Jackson MS and Wilson DI.
  TITLE     Narrowing the critical region within 11q24-qter for hypoplastic
            left heart and identification of a candidate gene, JAM3, expressed
            during cardiogenesis
  JOURNAL   Genomics 79 (4), 475-478 (2002)
   PUBMED   11944976
  REMARK    GeneRIF: JAM3 is a strong candidate gene for hypoplastic left heart
            syndrome
REFERENCE   8  (residues 1 to 259)
  AUTHORS   Liang TW, Chiu HH, Gurney A, Sidle A, Tumas DB, Schow P, Foster J,
            Klassen T, Dennis K, DeMarco RA, Pham T, Frantz G and Fong S.
  TITLE     Vascular endothelial-junctional adhesion molecule (VE-JAM)/JAM 2
            interacts with T, NK, and dendritic cells through JAM 3
  JOURNAL   J Immunol 168 (4), 1618-1626 (2002)
   PUBMED   11823489
  REMARK    GeneRIF: molecular cloning & role as VE-JAM/JAM 2 receptor
REFERENCE   9  (residues 1 to 259)
  AUTHORS   Aurrand-Lions M, Johnson-Leger C, Wong C, Du Pasquier L and Imhof
            BA.
  TITLE     Heterogeneity of endothelial junctions is reflected by differential
            expression and specific subcellular localization of the three JAM
            family members
  JOURNAL   Blood 98 (13), 3699-3707 (2001)
   PUBMED   11739175
REFERENCE   10 (residues 1 to 259)
  AUTHORS   Arrate MP, Rodriguez JM, Tran TM, Brock TA and Cunningham SA.
  TITLE     Cloning of human junctional adhesion molecule 3 (JAM3) and its
            identification as the JAM2 counter-receptor
  JOURNAL   J Biol Chem 276 (49), 45826-45832 (2001)
   PUBMED   11590146
  REMARK    GeneRIF: Cloning of human junctional adhesion molecule 3 (JAM3) and
            its identification as the JAM2 counter-receptor.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK125071.1 and AP001775.4.
            
            Summary: Tight junctions represent one mode of cell-to-cell
            adhesion in epithelial or endothelial cell sheets, forming
            continuous seals around cells and serving as a physical barrier to
            prevent solutes and water from passing freely through the
            paracellular space. The protein encoded by this immunoglobulin
            superfamily gene member is localized in the tight junctions between
            high endothelial cells. Unlike other proteins in this family, the
            this protein is unable to adhere to leukocyte cell lines and only
            forms weak homotypic interactions. The encoded protein is a member
            of the junctional adhesion molecule protein family and acts as a
            receptor for another member of this family. A mutation in an intron
            of this gene is associated with hemorrhagic destruction of the
            brain, subependymal calcification, and congenital cataracts.
            Alternative splicing results in multiple transcript
            variants.[provided by RefSeq, Apr 2011].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting protein (isoform 2) is
            shorter compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK125071.1, SRR14038193.1262585.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2146982
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..259
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q25"
     Protein         1..259
                     /product="junctional adhesion molecule C isoform 2
                     precursor"
                     /note="junctional adhesion molecule C"
                     /calculated_mol_wt=25642
     sig_peptide     1..31
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3600
     mat_peptide     32..259
                     /product="junctional adhesion molecule C isoform 2"
                     /calculated_mol_wt=25642
     Region          33..>85
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          49..53
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          64..68
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          91..186
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          105..109
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          119..123
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          151..155
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          165..170
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          179..182
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..259
                     /gene="JAM3"
                     /gene_synonym="JAM-2; JAM-3; JAM-C; JAMC"
                     /coded_by="NM_001205329.2:13..792"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS55799.1"
                     /db_xref="GeneID:83700"
                     /db_xref="HGNC:HGNC:15532"
                     /db_xref="MIM:606871"
ORIGIN      
        1 malrrpprlr lcarlpdffl lllfrgclig avnlkssnrt pvvqefesve lsciitdsqt
       61 sdpriewkki qdeqttyvff dnkiqvkpvt pvcrvpkavp vgkmatlhcq eseghprphy
      121 swyrndvplp tdsranprfr nssfhlnset gtlvftavhk ddsgqyycia sndagsarce
      181 eqemevydln iggiiggvlv vlavlalitl giccayrrgy finnkqdges yknpgkpdgv
      241 nyirtdeegd frhkssfvi
//
LOCUS       NP_006306                242 aa            linear   PRI 31-DEC-2022
DEFINITION  polycomb group RING finger protein 3 isoform a [Homo sapiens].
ACCESSION   NP_006306 NP_694982
VERSION     NP_006306.2
DBSOURCE    REFSEQ: accession NM_006315.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 242)
  AUTHORS   Hu Y, Cheng Y, Jiang X, Zhang Y, Wang H, Ren H, Xu Y, Jiang J, Wang
            Q, Su H, Zhang B and Qiu X.
  TITLE     PCGF3 promotes the proliferation and migration of non-small cell
            lung cancer cells via the PI3K/AKT signaling pathway
  JOURNAL   Exp Cell Res 400 (2), 112496 (2021)
   PUBMED   33485844
  REMARK    GeneRIF: PCGF3 promotes the proliferation and migration of
            non-small cell lung cancer cells via the PI3K/AKT signaling
            pathway.
REFERENCE   2  (residues 1 to 242)
  AUTHORS   Mu G, Xiang Q, Zhang Z, Liu C, Zhang H, Liu Z, Pang X, Jiang J, Xie
            Q, Zhou S, Wang Z, Hu K, Wang Z, Jiang S, Qin X and Cui Y.
  TITLE     PNPT1 and PCGF3 variants associated with angiotensin-converting
            enzyme inhibitor-induced cough: a nested case-control genome-wide
            study
  JOURNAL   Pharmacogenomics 21 (9), 601-614 (2020)
   PUBMED   32397904
  REMARK    GeneRIF: PNPT1 and PCGF3 variants associated with
            angiotensin-converting enzyme inhibitor-induced cough: a nested
            case-control genome-wide study.
REFERENCE   3  (residues 1 to 242)
  AUTHORS   Purohit,G., Mukherjee,A.K., Sharma,S. and Chowdhury,S.
  TITLE     Extratelomeric Binding of the Telomere Binding Protein TRF2 at the
            PCGF3 Promoter Is G-Quadruplex Motif-Dependent
  JOURNAL   Biochemistry 57 (16), 2317-2324 (2018)
   PUBMED   29589913
  REMARK    GeneRIF: We demonstrate that promoter binding by TRF2 mediates
            PCGF3 promoter activity, and both the N-terminal and C-terminal
            domains of TRF2 are necessary for promoter activity.
REFERENCE   4  (residues 1 to 242)
  AUTHORS   Hauri S, Comoglio F, Seimiya M, Gerstung M, Glatter T, Hansen K,
            Aebersold R, Paro R, Gstaiger M and Beisel C.
  TITLE     A High-Density Map for Navigating the Human Polycomb Complexome
  JOURNAL   Cell Rep 17 (2), 583-595 (2016)
   PUBMED   27705803
REFERENCE   5  (residues 1 to 242)
  AUTHORS   Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB,
            Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G,
            Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J,
            Graslund S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ
            and Greenblatt J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
REFERENCE   6  (residues 1 to 242)
  AUTHORS   Woodsmith J, Jenn RC and Sanderson CM.
  TITLE     Systematic analysis of dimeric E3-RING interactions reveals
            increased combinatorial complexity in human ubiquitination networks
  JOURNAL   Mol Cell Proteomics 11 (7), M111.016162 (2012)
   PUBMED   22493164
REFERENCE   7  (residues 1 to 242)
  AUTHORS   Oudot-Mellakh T, Cohen W, Germain M, Saut N, Kallel C, Zelenika D,
            Lathrop M, Tregouet DA and Morange PE.
  TITLE     Genome wide association study for plasma levels of natural
            anticoagulant inhibitors and protein C anticoagulant pathway: the
            MARTHA project
  JOURNAL   Br J Haematol 157 (2), 230-239 (2012)
   PUBMED   22443383
REFERENCE   8  (residues 1 to 242)
  AUTHORS   Vandamme J, Volkel P, Rosnoblet C, Le Faou P and Angrand PO.
  TITLE     Interaction proteomics analysis of polycomb proteins defines
            distinct PRC1 complexes in mammalian cells
  JOURNAL   Mol Cell Proteomics 10 (4), M110.002642 (2011)
   PUBMED   21282530
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC107464.5 and AC139887.3.
            On or before Aug 27, 2003 this sequence version replaced
            NP_694982.2, NP_006306.1.
            
            Summary: The protein encoded by this gene contains a C3HC4 type
            RING finger, which is a motif known to be involved in
            protein-protein interactions. The specific function of this protein
            has not yet been determined. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' UTR compared to variant 1. Variants 1-7 all encode the same
            isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.533208.1,
                                           SRR14038196.3559349.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000362003.10/ ENSP00000354724.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     Protein         1..242
                     /product="polycomb group RING finger protein 3 isoform a"
                     /note="ring finger protein 3; polycomb group RING finger
                     protein 3; RING finger protein 3A"
                     /calculated_mol_wt=27984
     Region          4..69
                     /region_name="RING-HC_PCGF3"
                     /note="RING finger found in polycomb group RING finger
                     protein 3 (PCGF3) and similar proteins; cd16735"
                     /db_xref="CDD:438393"
     Site            order(16,20,22..23,26,28..29,31..35,38..41,43..44)
                     /site_type="other"
                     /note="putative heterodimer interface [polypeptide
                     binding]"
                     /db_xref="CDD:438393"
     Region          115..149
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3KNV8.1)"
     Region          132..242
                     /region_name="Interaction with BCORL1.
                     /evidence=ECO:0000269|PubMed:27568929"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3KNV8.1)"
     Region          154..236
                     /region_name="RAWUL_PCGF3"
                     /note="RING finger- and WD40-associated ubiquitin-like
                     (RAWUL) domain found in polycomb group RING finger protein
                     3 (PCGF3) and similar proteins; cd17083"
                     /db_xref="CDD:340603"
     CDS             1..242
                     /gene="PCGF3"
                     /gene_synonym="DONG1; RNF3; RNF3A"
                     /coded_by="NM_006315.7:329..1057"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS3339.2"
                     /db_xref="GeneID:10336"
                     /db_xref="HGNC:HGNC:10066"
                     /db_xref="MIM:617543"
ORIGIN      
        1 mltrkiklwd inahitcrlc sgylidattv teclhtfcrs clvkyleenn tcptcrivih
       61 qshplqyigh drtmqdivyk lvpglqeaem rkqrefyhkl gmevpgdikg etcsakqhld
      121 shrngetkad dssnkeaaee kpeedndyhr sdeqvsicle cnssklrglk rkwircsaqa
      181 tvlhlkkfia kklnlssfne ldilcneeil gkdhtlkfvv vtrwrfkkap lllhyrpkmd
      241 ll
//
LOCUS       NP_001381520             353 aa            linear   PRI 31-DEC-2022
DEFINITION  C2 calcium-dependent domain-containing protein 4D [Homo sapiens].
ACCESSION   NP_001381520 XP_016855478
VERSION     NP_001381520.1
DBSOURCE    REFSEQ: accession NM_001394591.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 353)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL,
            Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P,
            Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy
            SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH,
            Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW,
            Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J,
            Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M,
            Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW,
            Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J,
            Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U,
            Smailus DE, Schnerch A, Schein JE, Jones SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL589765.19.
            On Apr 28, 2021 this sequence version replaced XP_016855478.1.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000694868.1/ ENSP00000511551.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..353
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..353
                     /product="C2 calcium-dependent domain-containing protein
                     4D"
                     /note="family with sequence similarity 148, member D"
                     /calculated_mol_wt=37452
     Region          <14..193
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     Region          135..191
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (B7Z1M9.2)"
     Region          <273..329
                     /region_name="C2"
                     /note="C2 domain; pfam00168"
                     /db_xref="CDD:425499"
     CDS             1..353
                     /gene="C2CD4D"
                     /gene_synonym="FAM148D"
                     /coded_by="NM_001394591.1:389..1450"
                     /db_xref="CCDS:CCDS44224.1"
                     /db_xref="GeneID:100191040"
                     /db_xref="HGNC:HGNC:37210"
ORIGIN      
        1 mwllekagyk vgaaepaarw apsglfskrr apgpptsacp nvltpdripq ffipprlpdp
       61 ggavpaarrh vagrglpatc slphlagreg waflpespht rrreslfhgp ppapagglpa
      121 aqsrlhvsap dlrlcrapds dtasspdssp fgsprpglgr rrvsrphsls pekassadts
      181 phsprragpp tpplfhldfl ccqlrptres vlrlgprggq lrlsteyqag pgrlrlrlvs
      241 aeglprprsr pgsggggccv vlrlrprvrp reqqsrvvkc sanpifnedf ffdglgppdl
      301 aarslrakvl drgaglrrdv llgecetpli allpplgggl gpgsslapth lsl
//
LOCUS       NP_001397931             566 aa            linear   PRI 01-JAN-2023
DEFINITION  nucleoporin p58/p45 isoform d [Homo sapiens].
ACCESSION   NP_001397931 XP_005266657
VERSION     NP_001397931.1
DBSOURCE    REFSEQ: accession NM_001411002.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 566)
  AUTHORS   Targa A, Larrimore KE, Wong CK, Chong YL, Fung R, Lee J, Choi H and
            Rancati G.
  TITLE     Non-genetic and genetic rewiring underlie adaptation to hypomorphic
            alleles of an essential gene
  JOURNAL   EMBO J 40 (21), e107839 (2021)
   PUBMED   34528284
  REMARK    GeneRIF: Non-genetic and genetic rewiring underlie adaptation to
            hypomorphic alleles of an essential gene.
REFERENCE   2  (residues 1 to 566)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 566)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 566)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 566)
  AUTHORS   Fasci D, van Ingen H, Scheltema RA and Heck AJR.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   6  (residues 1 to 566)
  AUTHORS   Kaltenbach LS, Romero E, Becklin RR, Chettier R, Bell R, Phansalkar
            A, Strand A, Torcassi C, Savage J, Hurlburt A, Cha GH, Ukani L,
            Chepanoske CL, Zhen Y, Sahasrabudhe S, Olson J, Kurschner C,
            Ellerby LM, Peltier JM, Botas J and Hughes RE.
  TITLE     Huntingtin interacting proteins are genetic modifiers of
            neurodegeneration
  JOURNAL   PLoS Genet 3 (5), e82 (2007)
   PUBMED   17500595
REFERENCE   7  (residues 1 to 566)
  AUTHORS   Le Rouzic E, Mousnier A, Rustum C, Stutz F, Hallberg E, Dargemont C
            and Benichou S.
  TITLE     Docking of HIV-1 Vpr to the nuclear envelope is mediated by the
            interaction with the nucleoporin hCG1
  JOURNAL   J Biol Chem 277 (47), 45091-45098 (2002)
   PUBMED   12228227
REFERENCE   8  (residues 1 to 566)
  AUTHORS   Ben-Efraim I and Gerace L.
  TITLE     Gradient of increasing affinity of importin beta for nucleoporins
            along the pathway of nuclear import
  JOURNAL   J Cell Biol 152 (2), 411-417 (2001)
   PUBMED   11266456
REFERENCE   9  (residues 1 to 566)
  AUTHORS   Shiota C, Coffey J, Grimsby J, Grippo JF and Magnuson MA.
  TITLE     Nuclear import of hepatic glucokinase depends upon glucokinase
            regulatory protein, whereas export is due to a nuclear export
            signal sequence in glucokinase
  JOURNAL   J Biol Chem 274 (52), 37125-37130 (1999)
   PUBMED   10601273
REFERENCE   10 (residues 1 to 566)
  AUTHORS   Buss F and Stewart M.
  TITLE     Macromolecular interactions in the nucleoporin p62 complex of rat
            nuclear pores: binding of nucleoporin p54 to the rod domain of p62
  JOURNAL   J Cell Biol 128 (3), 251-261 (1995)
   PUBMED   7531196
  REMARK    GeneRIF: The human gene NUPL1 shares 87% sequence identity with rat
            nucleoporin p58.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590787.24, AL646102.4 and
            AL138958.18.
            On Aug 20, 2022 this sequence version replaced XP_005266657.1.
            
            Summary: This gene encodes a member of the nucleoporin family that
            shares 87% sequence identity with rat nucleoporin p58. The protein
            is localized to the nuclear rim and is a component of the nuclear
            pore complex (NPC). All molecules entering or leaving the nucleus
            either diffuse through or are actively transported by the NPC.
            Alternate transcriptional splice variants, encoding different
            isoforms, have been characterized. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853560.8121.1,
                                           SRR11853567.8331.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..566
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.13"
     Protein         1..566
                     /product="nucleoporin p58/p45 isoform d"
                     /note="nucleoporin p58/p45; nucleoporin-like protein 1;
                     nucleoporin like 1; 58 kDa nucleoporin; nucleoporin 58kDa"
                     /calculated_mol_wt=57763
     Region          3..566
                     /region_name="Nucleoporin_FG2"
                     /note="Nucleoporin FG repeated region; pfam15967"
                     /db_xref="CDD:435043"
     CDS             1..566
                     /gene="NUP58"
                     /gene_synonym="NUP45; NUPL1; PRO2463"
                     /coded_by="NM_001411002.1:150..1850"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS91791.1"
                     /db_xref="GeneID:9818"
                     /db_xref="HGNC:HGNC:20261"
                     /db_xref="MIM:607615"
ORIGIN      
        1 mstgfsfgsg tlgsttvaag gtstggvfsf gtgassnpsv glnfgnlgst stpattsaps
       61 sgfgtglfgs kpatgftlgg tntgiattit tgltlgtpat tsaattgfsl gfnkpaasat
      121 pfalpitsts asgltlssal tstpaastgf tlnnlggtta ttttastgls lggalaglgg
      181 slfqstntgt sglgqnalgl tlgttaatst agneglggid fssssdkksd ktgtrpedsk
      241 alkdenlppv icqdvenlqk fvkeqkqvqe eisrmsskam lkvqedikal kqllslaang
      301 iqrntlnidk lkietaqelk naeialrtqk tppglqheya apadyfrilv qqfevqlqqy
      361 rqqieelenh latqannshi tpqdlsmamq kiyqtfvala aqlqsihenv kvlkeqylgy
      421 rkmflgdavd vfetrraeak kwqntprvtt gptpfstmpn aaavamaatl tqqqqpatgf
      481 gtssgfgcst tgastfgfgt tnkpsgslsa gfgssstsgf nfsnpgitas agltfgvsnp
      541 asagfgtggq llqlkkppag nkrgkr
//
LOCUS       NP_612472                247 aa            linear   PRI 22-JAN-2023
DEFINITION  TLC domain-containing protein 1 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_612472
VERSION     NP_612472.1
DBSOURCE    REFSEQ: accession NM_138463.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 247)
  AUTHORS   Petkevicius K, Palmgren H, Glover MS, Ahnmark A, Andreasson AC,
            Madeyski-Bengtson K, Kawana H, Allman EL, Kaper D, Uhrbom M,
            Andersson L, Aasehaug L, Forsstrom J, Wallin S, Ahlstedt I, Leke R,
            Karlsson D, Gonzalez-King H, Lofgren L, Nilsson R, Pellegrini G,
            Kono N, Aoki J, Hess S, Sienski G, Pilon M, Bohlooly-Y M, Maresca M
            and Peng XR.
  TITLE     TLCD1 and TLCD2 regulate cellular phosphatidylethanolamine
            composition and promote the progression of non-alcoholic
            steatohepatitis
  JOURNAL   Nat Commun 13 (1), 6020 (2022)
   PUBMED   36241646
  REMARK    GeneRIF: TLCD1 and TLCD2 regulate cellular phosphatidylethanolamine
            composition and promote the progression of non-alcoholic
            steatohepatitis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 247)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 247)
  AUTHORS   Ruiz M, Bodhicharla R, Svensk E, Devkota R, Busayavalasa K,
            Palmgren H, Stahlman M, Boren J and Pilon M.
  TITLE     Membrane fluidity is regulated by the C. elegans transmembrane
            protein FLD-1 and its human homologs TLCD1/2
  JOURNAL   Elife 7, e40686 (2018)
   PUBMED   30509349
  REMARK    GeneRIF: inhibition of FLD-1 or TLCD1/2 prevents lipotoxicity by
            allowing increased levels of membrane phospholipids that contain
            fluidizing long-chain polyunsaturated fatty acids.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 247)
  AUTHORS   Papanayotou C, De Almeida I, Liao P, Oliveira NM, Lu SQ,
            Kougioumtzidou E, Zhu L, Shaw A, Sheng G, Streit A, Yu D, Wah Soong
            T and Stern CD.
  TITLE     Calfacilitin is a calcium channel modulator essential for
            initiation of neural plate development
  JOURNAL   Nat Commun 4, 1837 (2013)
   PUBMED   23673622
REFERENCE   5  (residues 1 to 247)
  AUTHORS   Winter E and Ponting CP.
  TITLE     TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing
            domains?
  JOURNAL   Trends Biochem Sci 27 (8), 381-383 (2002)
   PUBMED   12151215
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010761.10, CA453962.1, BC014072.2 and BF478215.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC014072.2, SRR1163655.510489.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000292090.8/ ENSP00000292090.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..247
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     Protein         1..247
                     /product="TLC domain-containing protein 1 isoform 1
                     precursor"
                     /note="TLC domain-containing protein 1; calfacilitin"
                     /calculated_mol_wt=24639
     sig_peptide     1..35
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96CP7.1)"
                     /calculated_mol_wt=3927
     Region          41..234
                     /region_name="TLC"
                     /note="TRAM, LAG1 and CLN8 homology domains; smart00724"
                     /db_xref="CDD:214789"
     Site            47..67
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CP7.1)"
     Site            84..104
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CP7.1)"
     Site            174..194
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CP7.1)"
     Site            202..222
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CP7.1)"
     CDS             1..247
                     /gene="TLCD1"
                     /coded_by="NM_138463.4:137..880"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS11242.1"
                     /db_xref="GeneID:116238"
                     /db_xref="HGNC:HGNC:25177"
ORIGIN      
        1 mprllhpalp lllgatltfr alrralcrlp lpvhvradpl rtwrwhnllv sfahsivsgi
       61 wallcvwqtp dmlveietaw slsgyllvcf sagyfihdtv divasgqtra sweylvhhvm
      121 amgaffsgif wssfvgggvl tllvevsnif ltirmmmkis naqdhllyrv nkyvnlvmyf
      181 lfrlapqayl thfflryvnq rtlgtfllgi llmldvmiii yfsrllrsdf cpehvpkkqh
      241 kdkflte
//
LOCUS       NP_877495                271 aa            linear   PRI 22-JAN-2023
DEFINITION  induced myeloid leukemia cell differentiation protein Mcl-1 isoform
            2 [Homo sapiens].
ACCESSION   NP_877495
VERSION     NP_877495.1
DBSOURCE    REFSEQ: accession NM_182763.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 271)
  AUTHORS   Li M, Gao F, Li X, Gan Y, Han S, Yu X, Liu H and Li W.
  TITLE     Stabilization of MCL-1 by E3 ligase TRAF4 confers radioresistance
  JOURNAL   Cell Death Dis 13 (12), 1053 (2022)
   PUBMED   36535926
  REMARK    GeneRIF: Stabilization of MCL-1 by E3 ligase TRAF4 confers
            radioresistance.
            Erratum:[Cell Death Dis. 2023 Jan 18;14(1):36. PMID: 36653350]
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 271)
  AUTHORS   Dunham D, Viswanathan P, Gill J and Manzano M.
  TITLE     Expression Ratios of the Antiapoptotic BCL2 Family Members Dictate
            the Selective Addiction of Kaposi's Sarcoma-Associated
            Herpesvirus-Transformed Primary Effusion Lymphoma Cell Lines to
            MCL1
  JOURNAL   J Virol 96 (23), e0136022 (2022)
   PUBMED   36416587
  REMARK    GeneRIF: Expression Ratios of the Antiapoptotic BCL2 Family Members
            Dictate the Selective Addiction of Kaposi's Sarcoma-Associated
            Herpesvirus-Transformed Primary Effusion Lymphoma Cell Lines to
            MCL1.
REFERENCE   3  (residues 1 to 271)
  AUTHORS   Kim JH, Sim SH, Ha HJ, Ko JJ, Lee K and Bae J.
  TITLE     MCL-1ES, a novel variant of MCL-1, associates with MCL-1L and
            induces mitochondrial cell death
  JOURNAL   FEBS Lett 583 (17), 2758-2764 (2009)
   PUBMED   19683529
  REMARK    GeneRIF: Data show that MCL-1ES interacts with MCL-1L and induces
            mitochondrial cell death, suggesting that alternative splicing of
            MCL-1 may control the fate of cells.
REFERENCE   4  (residues 1 to 271)
  AUTHORS   Fujise K, Zhang D, Liu J and Yeh ET.
  TITLE     Regulation of apoptosis and cell cycle progression by MCL1.
            Differential role of proliferating cell nuclear antigen
  JOURNAL   J Biol Chem 275 (50), 39458-39465 (2000)
   PUBMED   10978339
REFERENCE   5  (residues 1 to 271)
  AUTHORS   Bae J, Leo CP, Hsu SY and Hsueh AJ.
  TITLE     MCL-1S, a splicing variant of the antiapoptotic BCL-2 family member
            MCL-1, encodes a proapoptotic protein possessing only the BH3
            domain
  JOURNAL   J Biol Chem 275 (33), 25255-25261 (2000)
   PUBMED   10837489
REFERENCE   6  (residues 1 to 271)
  AUTHORS   Akgul C, Turner PC, White MR and Edwards SW.
  TITLE     Functional analysis of the human MCL-1 gene
  JOURNAL   Cell Mol Life Sci 57 (4), 684-691 (2000)
   PUBMED   11130466
REFERENCE   7  (residues 1 to 271)
  AUTHORS   Umezawa A, Maruyama T, Inazawa J, Imai S, Takano T and Hata J.
  TITLE     Induction of mcl1/EAT, Bcl-2 related gene, by retinoic acid or heat
            shock in the human embryonal carcinoma cells, NCR-G3
  JOURNAL   Cell Struct Funct 21 (2), 143-150 (1996)
   PUBMED   8790944
REFERENCE   8  (residues 1 to 271)
  AUTHORS   Yang T, Kozopas KM and Craig RW.
  TITLE     The intracellular distribution and pattern of expression of Mcl-1
            overlap with, but are not identical to, those of Bcl-2
  JOURNAL   J Cell Biol 128 (6), 1173-1184 (1995)
   PUBMED   7896880
REFERENCE   9  (residues 1 to 271)
  AUTHORS   Craig RW, Jabs EW, Zhou P, Kozopas KM, Hawkins AL, Rochelle JM,
            Seldin MF and Griffin CA.
  TITLE     Human and mouse chromosomal mapping of the myeloid cell leukemia-1
            gene: MCL1 maps to human chromosome 1q21, a region that is
            frequently altered in preneoplastic and neoplastic disease
  JOURNAL   Genomics 23 (2), 457-463 (1994)
   PUBMED   7835896
REFERENCE   10 (residues 1 to 271)
  AUTHORS   Kozopas KM, Yang T, Buchan HL, Zhou P and Craig RW.
  TITLE     MCL1, a gene expressed in programmed myeloid cell differentiation,
            has sequence similarity to BCL2
  JOURNAL   Proc Natl Acad Sci U S A 90 (8), 3516-3520 (1993)
   PUBMED   7682708
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356356.17.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes an anti-apoptotic protein, which is a
            member of the Bcl-2 family. Alternative splicing results in
            multiple transcript variants. The longest gene product (isoform 1)
            enhances cell survival by inhibiting apoptosis while the
            alternatively spliced shorter gene products (isoform 2 and isoform
            3) promote apoptosis and are death-inducing. [provided by RefSeq,
            Oct 2010].
            
            Transcript Variant: This variant (2), also known as MCL-1S (short),
            lacks an alternate exon that causes a frameshift, compared to
            variant 1. The resulting protein (isoform 2) has a distinct
            C-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1426988.1,
                                           SRR1163655.663703.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..271
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     Protein         1..271
                     /product="induced myeloid leukemia cell differentiation
                     protein Mcl-1 isoform 2"
                     /note="induced myeloid leukemia cell differentiation
                     protein Mcl-1; myeloid cell leukemia ES; bcl-2-like
                     protein 3; myeloid cell leukemia 1; bcl-2-related protein
                     EAT/mcl1; myeloid cell leukemia sequence 1 (BCL2-related);
                     BCL2 family apoptosis regulator; MCL1, BCL2 family
                     apoptosis regulator"
                     /calculated_mol_wt=28531
     Region          47..87
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07820.3)"
     Region          104..175
                     /region_name="PEST-like"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07820.3)"
     Site            121
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12223490; propagated from
                     UniProtKB/Swiss-Prot (Q07820.3)"
     Site            127..128
                     /site_type="cleavage"
                     /note="Cleavage, by caspase-3; propagated from
                     UniProtKB/Swiss-Prot (Q07820.3)"
     Region          148..171
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07820.3)"
     Site            157..158
                     /site_type="cleavage"
                     /note="Cleavage, by caspase-3; propagated from
                     UniProtKB/Swiss-Prot (Q07820.3)"
     Site            159
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by GSK3-alpha and GSK3-beta.
                     /evidence=ECO:0000269|PubMed:16543145; propagated from
                     UniProtKB/Swiss-Prot (Q07820.3)"
     Site            162
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23024798; propagated from
                     UniProtKB/Swiss-Prot (Q07820.3)"
     Site            163
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by MAPK.
                     /evidence=ECO:0000269|PubMed:12223490,
                     ECO:0000269|PubMed:15241487, ECO:0000269|PubMed:23024798;
                     propagated from UniProtKB/Swiss-Prot (Q07820.3)"
     Region          175..>230
                     /region_name="Bcl-2_like"
                     /note="Apoptosis regulator proteins of the Bcl-2 family,
                     named after B-cell lymphoma 2. This alignment model spans
                     what have been described as Bcl-2 homology regions BH1,
                     BH2, BH3, and BH4. Many members of this family have an
                     additional C-terminal transmembrane...; cl02575"
                     /db_xref="CDD:445841"
     Site            175..189
                     /site_type="active"
                     /note="BH4 [active]"
                     /db_xref="CDD:132900"
     Region          209..223
                     /region_name="BH3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07820.3)"
     Site            213..221
                     /site_type="active"
                     /note="BH3 [active]"
                     /db_xref="CDD:132900"
     CDS             1..271
                     /gene="MCL1"
                     /gene_synonym="bcl2-L-3; BCL2L3; EAT; Mcl-1; MCL1-ES;
                     mcl1/EAT; MCL1L; MCL1S; TM"
                     /coded_by="NM_182763.3:81..896"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS956.1"
                     /db_xref="GeneID:4170"
                     /db_xref="HGNC:HGNC:6943"
                     /db_xref="MIM:159552"
ORIGIN      
        1 mfglkrnavi glnlycggag lgagsggatr pggrllatek easarreigg geagaviggs
       61 agasppstlt pdsrrvarpp pigaevpdvt atparllffa ptrraaplee meapaadaim
      121 speeeldgye peplgkrpav lpllelvges gnntstdgsl pstpppaeee edelyrqsle
      181 iisrylreqa tgakdtkpmg rsgatsrkal etlrrvgdgv qrnhetafqg wvcgvlpcrg
      241 prrwhqecaa gfcrccwsrs wfgisnkial l
//
LOCUS       NP_001373948             737 aa            linear   PRI 19-FEB-2023
DEFINITION  NEDD4-binding protein 2-like 2 isoform 3 [Homo sapiens].
ACCESSION   NP_001373948 XP_016875824
VERSION     NP_001373948.1
DBSOURCE    REFSEQ: accession NM_001387019.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 737)
  AUTHORS   Yang KD, Wang Y, Zhang F, Luo BH, Feng DY and Zeng ZJ.
  TITLE     CircN4BP2L2 promotes colorectal cancer growth and metastasis
            through regulation of the miR-340-5p/CXCR4 axis
  JOURNAL   Lab Invest 102 (1), 38-47 (2022)
   PUBMED   36775571
  REMARK    GeneRIF: CircN4BP2L2 promotes colorectal cancer growth and
            metastasis through regulation of the miR-340-5p/CXCR4 axis.
REFERENCE   2  (residues 1 to 737)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 737)
  AUTHORS   Salipante SJ, Rojas ME, Korkmaz B, Duan Z, Wechsler J, Benson KF,
            Person RE, Grimes HL and Horwitz MS.
  TITLE     Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein
            mediating transcriptional repressor cooperation between Gfi1 and
            neutrophil elastase
  JOURNAL   Mol Cell Biol 29 (16), 4394-4405 (2009)
   PUBMED   19506020
  REMARK    GeneRIF: Data suggest that expression of PFAAP5 allows neutrophil
            elastase to potentiate the repression of Gfi1 target genes.
REFERENCE   4  (residues 1 to 737)
  AUTHORS   Couch FJ, Rommens JM, Neuhausen SL, Belanger C, Dumont M, Abel K,
            Bell R, Berry S, Bogden R, Cannon-Albright L, Farid L, Frye C,
            Hattier T, Janecki T, Jiang P, Kehrer R, Leblanc JF,
            McArthur-Morrison J, Meney D, Miki Y, Peng Y, Samson C, Schroeder
            M, Snyder SC, Simard J et al.
  TITLE     Generation of an integrated transcription map of the BRCA2 region
            on chromosome 13q12-q13
  JOURNAL   Genomics 36 (1), 86-99 (1996)
   PUBMED   8812419
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL353665.13 and AL137247.14.
            On Sep 21, 2020 this sequence version replaced XP_016875824.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.46072.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..737
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.1"
     Protein         1..737
                     /product="NEDD4-binding protein 2-like 2 isoform 3"
                     /note="phosphonoformate immuno-associated protein 5;
                     protein from BRCA2 region"
                     /calculated_mol_wt=85269
     Region          <17..92
                     /region_name="AAA_33"
                     /note="AAA domain; pfam13671"
                     /db_xref="CDD:433395"
     CDS             1..737
                     /gene="N4BP2L2"
                     /gene_synonym="92M18.3; CG005; CG016; PFAAP5"
                     /coded_by="NM_001387019.1:137..2350"
                     /note="isoform 3 is encoded by transcript variant 15"
                     /db_xref="CCDS:CCDS61307.1"
                     /db_xref="GeneID:10443"
                     /db_xref="HGNC:HGNC:26916"
                     /db_xref="MIM:615788"
ORIGIN      
        1 malcsalmti ftikmgtakq aidqgrspvi idntniqawe mkpyvevaig kgyrvefhep
       61 etwwkfdpee lekrnkhgvs rkkiaqmldr yeyqmsisiv mnsvepshks tqrppppqgr
      121 qrervlkktg hrlsktkqkr nrkrnkkqns qnrimeensl eflsdltpgd qdpsqseeed
      181 iektrresey pfidglqnev gdfvtgykek rwknkdpkds fqnvmsivel dntpknylsk
      241 egdnlfvsll lrpneisvtc piltqnlscv ttddcsgmkv ekhirnrhti aldtqdlsae
      301 tsclfmkkre ivdknlshep ilchqhgirm sdkvlreeqv yttkinhwaf fttnlsdedl
      361 qlgsdrqpyf gswpagphkf iceqrpkkdr acklagpdsr gqwiqmifts vaasepgnnp
      421 eiltdkllig nedfspppet mdsfietnlf rsclpqpdip knalestknk krrkkrifnl
      481 vpnfdllgqs rigvkerekc dlltknhglk itlgeekdri sernseeenk qklmtfdhhp
      541 lwfyldiika tplnidgqry shclsfnrlr csaslyknyi psfvlhnlss iwkpsftnkk
      601 lfltfesqtr vgnklndagf ispeilhshp dtscslgvts dfhflnerfd rklkrweepk
      661 elpaedsqdl tstdyrslel plsqgfafql vklfgspgvp mesllpddyv vpldwktlkm
      721 iylqwkmsve krqkkig
//
LOCUS       NP_060516                714 aa            linear   PRI 12-MAR-2023
DEFINITION  angiogenic factor with G patch and FHA domains 1 [Homo sapiens].
ACCESSION   NP_060516
VERSION     NP_060516.2
DBSOURCE    REFSEQ: accession NM_018046.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 714)
  AUTHORS   Wang R, Zhao J, Liu C, Li S, Liu W and Cao Q.
  TITLE     Decreased AGGF1 facilitates the progression of placenta accreta
            spectrum via mediating the P53 signaling pathway under the
            regulation of miR-1296-5p
  JOURNAL   Reprod Biol 23 (1), 100735 (2023)
   PUBMED   36753931
  REMARK    GeneRIF: Decreased AGGF1 facilitates the progression of placenta
            accreta spectrum via mediating the P53 signaling pathway under the
            regulation of miR-1296-5p.
REFERENCE   2  (residues 1 to 714)
  AUTHORS   Wang J, Peng H, Timur AA, Pasupuleti V, Yao Y, Zhang T, You SA, Fan
            C, Yu Y, Jia X, Chen J, Xu C, Chen Q and Wang Q.
  TITLE     Receptor and Molecular Mechanism of AGGF1 Signaling in Endothelial
            Cell Functions and Angiogenesis
  JOURNAL   Arterioscler Thromb Vasc Biol 41 (11), 2756-2769 (2021)
   PUBMED   34551592
  REMARK    GeneRIF: Receptor and Molecular Mechanism of AGGF1 Signaling in
            Endothelial Cell Functions and Angiogenesis.
REFERENCE   3  (residues 1 to 714)
  AUTHORS   Shen S, Shang L, Liu H, Liang Q, Liang W and Ge S.
  TITLE     AGGF1 inhibits the expression of inflammatory mediators and
            promotes angiogenesis in dental pulp cells
  JOURNAL   Clin Oral Investig 25 (2), 581-592 (2021)
   PUBMED   32789654
  REMARK    GeneRIF: AGGF1 inhibits the expression of inflammatory mediators
            and promotes angiogenesis in dental pulp cells.
REFERENCE   4  (residues 1 to 714)
  AUTHORS   Si W, Zhou B, Xie W, Li H, Li K, Li S, Deng W, Shi P, Yuan C, Ke T,
            Ren X, Tu X, Zeng X, Weigelt B, Rubin BP, Chen Q, Xu C and Wang QK.
  TITLE     Angiogenic factor AGGF1 acts as a tumor suppressor by modulating
            p53 post-transcriptional modifications and stability via MDM2
  JOURNAL   Cancer Lett 497, 28-40 (2021)
   PUBMED   33069768
  REMARK    GeneRIF: Angiogenic factor AGGF1 acts as a tumor suppressor by
            modulating p53 post-transcriptional modifications and stability via
            MDM2.
REFERENCE   5  (residues 1 to 714)
  AUTHORS   Yao G, Li R, Du J and Yao Y.
  TITLE     Angiogenic factor with G patch and FHA domains 1 protects retinal
            vascular endothelial cells under hyperoxia by inhibiting autophagy
  JOURNAL   J Biochem Mol Toxicol 34 (11), e22572 (2020)
   PUBMED   32633013
  REMARK    GeneRIF: Angiogenic factor with G patch and FHA domains 1 protects
            retinal vascular endothelial cells under hyperoxia by inhibiting
            autophagy.
REFERENCE   6  (residues 1 to 714)
  AUTHORS   Gutierrez S, Magano L, Delicado A, Mori MA, de Torres ML, Fernandez
            L, Palomares M, Fernandez E, Tarduchy GR, Molano J, Gracia R,
            Pajares IL and Lapunzina P.
  TITLE     The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single
            nucleotide polymorphism in the Spanish population
  JOURNAL   Am J Med Genet A 140 (24), 2832-2833 (2006)
   PUBMED   17103452
  REMARK    GeneRIF: Observational study of genotype prevalence and
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (residues 1 to 714)
  AUTHORS   Kihiczak GG, Meine JG, Schwartz RA and Janniger CK.
  TITLE     Klippel-Trenaunay syndrome: a multisystem disorder possibly
            resulting from a pathogenic gene for vascular and tissue overgrowth
  JOURNAL   Int J Dermatol 45 (8), 883-890 (2006)
   PUBMED   16911369
  REMARK    GeneRIF: This review describes the somatic mutation for angiogenic
            factor VG5Q, which may be the cause of the multisystem disorder
            Klippel-Trenaunay syndrome.
            Review article
REFERENCE   8  (residues 1 to 714)
  AUTHORS   Barker,K.T., Foulkes,W.D., Schwartz,C.E., Labadie,C., Monsell,F.,
            Houlston,R.S. and Harper,J.
  TITLE     Is the E133K allele of VG5Q associated with Klippel-Trenaunay and
            other overgrowth syndromes?
  JOURNAL   J Med Genet 43 (7), 613-614 (2006)
   PUBMED   16443853
  REMARK    GeneRIF: VG5Q, E133K is a mutation that causes Klippel-Trenaunay
            and other overgrowth syndromes.
REFERENCE   9  (residues 1 to 714)
  AUTHORS   Timur AA, Driscoll DJ and Wang Q.
  TITLE     Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular
            anomalies and vascular morphogenesis
  JOURNAL   Cell Mol Life Sci 62 (13), 1434-1447 (2005)
   PUBMED   15905966
  REMARK    Review article
REFERENCE   10 (residues 1 to 714)
  AUTHORS   Tian XL, Kadaba R, You SA, Liu M, Timur AA, Yang L, Chen Q,
            Szafranski P, Rao S, Wu L, Housman DE, DiCorleto PE, Driscoll DJ,
            Borrow J and Wang Q.
  TITLE     Identification of an angiogenic factor that when mutated causes
            susceptibility to Klippel-Trenaunay syndrome
  JOURNAL   Nature 427 (6975), 640-645 (2004)
   PUBMED   14961121
  REMARK    GeneRIF: results define VG5Q as an angiogenic factor, establish
            VG5Q as a susceptibility gene for Klippel-Trenaunay syndrome, and
            show that increased angiogenesis is a molecular pathogenic
            mechanism of KTS
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI561566.1, AY500994.1,
            AC008581.11, DR157679.1, BX648120.1 and AI453097.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 11, 2003 this sequence version replaced NP_060516.1.
            
            Summary: This gene encodes an angiogenic factor that promotes
            proliferation of endothelial cells. Mutations in this gene are
            associated with a susceptibility to Klippel-Trenaunay syndrome.
            Pseudogenes of this gene are found on chromosomes 3, 4, 10 and
            16.[provided by RefSeq, Sep 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.112465.1,
                                           SRR1660803.183314.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000312916.12/ ENSP00000316109.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..714
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.3"
     Protein         1..714
                     /product="angiogenic factor with G patch and FHA domains
                     1"
                     /note="angiogenic factor VG5Q; vasculogenesis gene on 5q
                     protein; G patch domain-containing protein 7"
                     /calculated_mol_wt=80847
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N302.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q8N302.2)"
     Site            7
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N302.2)"
     Site            11
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N302.2)"
     Region          <29..>79
                     /region_name="DUF745"
                     /note="Protein of unknown function (DUF745); pfam05335"
                     /db_xref="CDD:398808"
     Region          200..253
                     /region_name="OCRE_VG5Q"
                     /note="OCRE domain found in angiogenic factor VG5Q and
                     similar proteins; cd16164"
                     /db_xref="CDD:293883"
     Region          205..212
                     /region_name="OCRE repeat 1"
                     /note="OCRE repeat 1 [structural motif]"
                     /db_xref="CDD:293883"
     Region          213..220
                     /region_name="OCRE repeat 2"
                     /note="OCRE repeat 2 [structural motif]"
                     /db_xref="CDD:293883"
     Region          221..228
                     /region_name="OCRE repeat 3"
                     /note="OCRE repeat 3 [structural motif]"
                     /db_xref="CDD:293883"
     Region          229..235
                     /region_name="OCRE repeat 4"
                     /note="OCRE repeat 4 [structural motif]"
                     /db_xref="CDD:293883"
     Region          238..245
                     /region_name="OCRE repeat 5"
                     /note="OCRE repeat 5 [structural motif]"
                     /db_xref="CDD:293883"
     Region          259..307
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N302.2)"
     Region          322..384
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N302.2)"
     Site            344
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N302.2)"
     Region          406..529
                     /region_name="FHA_AGGF1"
                     /note="forkhead associated (FHA) domain found in
                     angiogenic factor with G patch and FHA domains 1 (AGGF1)
                     and similar proteins; cd22686"
                     /db_xref="CDD:438738"
     Site            order(437..438,454..455,457,476,478..479)
                     /site_type="other"
                     /note="putative phosphopeptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438738"
     Region          586..617
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N302.2)"
     Region          620..661
                     /region_name="G-patch"
                     /note="G-patch domain; pfam01585"
                     /db_xref="CDD:396249"
     Region          655..714
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N302.2)"
     Site            664
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q8N302.2)"
     CDS             1..714
                     /gene="AGGF1"
                     /gene_synonym="GPATC7; GPATCH7; HSU84971; HUS84971; VG5Q"
                     /coded_by="NM_018046.5:364..2508"
                     /db_xref="CCDS:CCDS4035.1"
                     /db_xref="GeneID:55109"
                     /db_xref="HGNC:HGNC:24684"
                     /db_xref="MIM:608464"
ORIGIN      
        1 maseapsppr spppptspep elaqlrrkve klerelrsck rqvreiekll hhterlyqna
       61 esnnqelrtq veelskilqr grnednkksd vevqtenhap wsisdyfyqt yyndvslpnk
      121 vtelsdqqdq aietsilnsk dhlqvenday pgtdrtenvk yrqvdhfasn sqepasalat
      181 edtslegssl aeslraaaea avsqtgfsyd entglyfdhs tgfyydsenq lyydpstgiy
      241 yycdvesgry qfhsrvdlqp yptsstkqsk dkklkkkrkd pdssatneek dlnsedqkaf
      301 svehtscnee enfanmkkka kigihhknsp pkvtvptsgn tiesplheni snstsfkdek
      361 imetdsepee geitdsqted sydeaitseg nvtaedsede dedkiwppci rvivirspvl
      421 qigslfiita vnpatigrek dmehtlripe vgvskfhaei yfdhdlqsyv lvdqgsqngt
      481 ivngkqilqp ktkcdpyvle hgdevkiget vlsfhihpgs dtcdgcepgq vrahlrldkk
      541 desfvgptls keekelerrk elkkirvkyg lqnteyedek tlknpkykdr agkrreqvgs
      601 egtfqrddap asvhseitds nkgrkmlekm gwkkgeglgk dgggmktpiq lqlrrthagl
      661 gtgkpssfed vhllqnknkk nwdkarerft enfpetkpqk ddpgtmpwvk gtle
//
LOCUS       NP_005778                438 aa            linear   PRI 14-MAR-2023
DEFINITION  dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
            isoform a [Homo sapiens].
ACCESSION   NP_005778
VERSION     NP_005778.1
DBSOURCE    REFSEQ: accession NM_005787.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 438)
  AUTHORS   Shang Z, Ming X, Wu J, Liu W and Xiao Y.
  TITLE     CircPTK2 promotes cell viability, cell cycle process, and
            glycolysis and inhibits cell apoptosis in acute myeloid leukemia by
            regulating miR-582-3p/ALG3 axis
  JOURNAL   Expert Rev Hematol 15 (12), 1073-1083 (2022)
   PUBMED   35980117
  REMARK    GeneRIF: CircPTK2 promotes cell viability, cell cycle process, and
            glycolysis and inhibits cell apoptosis in acute myeloid leukemia by
            regulating miR-582-3p/ALG3 axis.
REFERENCE   2  (residues 1 to 438)
  AUTHORS   Cui X, Pei X, Wang H, Feng P, Qin H, Liu S, Yan Q and Liu J.
  TITLE     ALG3 Promotes Peritoneal Metastasis of Ovarian Cancer through
            Increasing Interaction of alpha1,3-mannosylated uPAR and ADAM8
  JOURNAL   Cells 11 (19), 3141 (2022)
   PUBMED   36231102
  REMARK    GeneRIF: ALG3 Promotes Peritoneal Metastasis of Ovarian Cancer
            through Increasing Interaction of alpha1,3-mannosylated uPAR and
            ADAM8.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 438)
  AUTHORS   Liu P, Lin C, Liu Z, Zhu C, Lin Z, Xu D, Chen J, Huang Q, Li CY,
            Hou L, Pan JA and Liu X.
  TITLE     Inhibition of ALG3 stimulates cancer cell immunogenic ferroptosis
            to potentiate immunotherapy
  JOURNAL   Cell Mol Life Sci 79 (7), 352 (2022)
   PUBMED   35676564
  REMARK    GeneRIF: Inhibition of ALG3 stimulates cancer cell immunogenic
            ferroptosis to potentiate immunotherapy.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 438)
  AUTHORS   Li M, Zhang N, Shan W and Guan B.
  TITLE     ALG3 Is a Potential Biomarker for the Prognosis of Bladder Cancer
  JOURNAL   Ann Clin Lab Sci 52 (1), 117-125 (2022)
   PUBMED   35181625
  REMARK    GeneRIF: ALG3 Is a Potential Biomarker for the Prognosis of Bladder
            Cancer.
REFERENCE   5  (residues 1 to 438)
  AUTHORS   Sun X, He Z, Guo L, Wang C, Lin C, Ye L, Wang X, Li Y, Yang M, Liu
            S, Hua X, Wen W, Lin C, Long Z, Zhang W, Li H, Jian Y, Zhu Z, Wu X
            and Lin H.
  TITLE     ALG3 contributes to stemness and radioresistance through regulating
            glycosylation of TGF-beta receptor II in breast cancer
  JOURNAL   J Exp Clin Cancer Res 40 (1), 149 (2021)
   PUBMED   33931075
  REMARK    GeneRIF: ALG3 contributes to stemness and radioresistance through
            regulating glycosylation of TGF-beta receptor II in breast cancer.
            Erratum:[J Exp Clin Cancer Res. 2022 Mar 31;41(1):117. PMID:
            35361247]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 438)
  AUTHORS   Denecke J, Kranz C, Kemming D, Koch HG and Marquardt T.
  TITLE     An activated 5' cryptic splice site in the human ALG3 gene
            generates a premature termination codon insensitive to
            nonsense-mediated mRNA decay in a new case of congenital disorder
            of glycosylation type Id (CDG-Id)
  JOURNAL   Hum Mutat 23 (5), 477-486 (2004)
   PUBMED   15108280
REFERENCE   7  (residues 1 to 438)
  AUTHORS   Jaeken J.
  TITLE     Congenital disorders of glycosylation (CDG): update and new
            developments
  JOURNAL   J Inherit Metab Dis 27 (3), 423-426 (2004)
   PUBMED   15272470
  REMARK    Review article
REFERENCE   8  (residues 1 to 438)
  AUTHORS   Korner C, Knauer R, Stephani U, Marquardt T, Lehle L and von Figura
            K.
  TITLE     Carbohydrate deficient glycoprotein syndrome type IV: deficiency of
            dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase
  JOURNAL   EMBO J 18 (23), 6816-6822 (1999)
   PUBMED   10581255
REFERENCE   9  (residues 1 to 438)
  AUTHORS   Stibler H, Stephani U and Kutsch U.
  TITLE     Carbohydrate-deficient glycoprotein syndrome--a fourth subtype
  JOURNAL   Neuropediatrics 26 (5), 235-237 (1995)
   PUBMED   8552211
REFERENCE   10 (residues 1 to 438)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Y09022.1, BC021062.1,
            BC002839.2, BC004313.1, AW297350.1 and AC061705.16.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the ALG3 family. The encoded
            protein catalyses the addition of the first dol-P-Man derived
            mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in
            this gene have been associated with congenital disorder of
            glycosylation type Id (CDG-Id) characterized by abnormal
            N-glycosylation. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Nov
            2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: KP189284.1, BC004313.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397676.8/ ENSP00000380793.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..438
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.1"
     Protein         1..438
                     /product="dol-P-Man:Man(5)GlcNAc(2)-PP-Dol
                     alpha-1,3-mannosyltransferase isoform a"
                     /EC_number="2.4.1.258"
                     /note="asparagine-linked glycosylation 3 homolog (yeast,
                     alpha-1,3-mannosyltransferase); carbohydrate deficient
                     glycoprotein syndrome type IV; asparagine-linked
                     glycosylation 3 homolog (S. cerevisiae,
                     alpha-1,3-mannosyltransferase);
                     dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl
                     mannosyltransferase; Not56-like protein; asparagine-linked
                     glycosylation protein 3 homolog;
                     dolichyl-phosphate-mannose--glycolipid
                     alpha-mannosyltransferase;
                     dol-P-Man:Man(5)GlcNAc(2)-PP-Dol
                     alpha-1,3-mannosyltransferase; asparagine-linked
                     glycosylation 3, alpha-1,3- mannosyltransferase homolog;
                     dol-P-Man-dependent alpha(1-3)-mannosyltransferase"
                     /calculated_mol_wt=49996
     Site            13
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92685.1)"
     Site            41..61
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Region          49..406
                     /region_name="ALG3"
                     /note="ALG3 protein; pfam05208"
                     /db_xref="CDD:428369"
     Site            95..115
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            123..143
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            149..169
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            172..192
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            203..223
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            231..251
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            289..309
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            332..352
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            356..376
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            407..427
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     CDS             1..438
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /coded_by="NM_005787.6:23..1339"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS46968.1"
                     /db_xref="GeneID:10195"
                     /db_xref="HGNC:HGNC:23056"
                     /db_xref="MIM:608750"
ORIGIN      
        1 maaglrkrgr sgsaaqaegl ckqwlqrawq errlllrepr ytllvaaclc laevgitfwv
       61 ihrvayteid wkaymaeveg vingtydytq lqgdtgplvy pagfvyifmg lyyatsrgtd
      121 irmaqnifav lylatlllvf liyhqtckvp pfvfffmcca syrvhsifvl rlfndpvamv
      181 llflsinlll aqrwgwgccf fslavsvkmn vllfapgllf llltqfgfrg alpklgicag
      241 lqvvlglpfl lenpsgylsr sfdlgrqflf hwtvnwrflp ealflhrafh lalltahltl
      301 lllfalcrwh rtgesilsll rdpskrkvpp qpltpnqivs tlftsnfigi cfsrslhyqf
      361 yvwyfhtlpy llwamparwl thllrllvlg lielswntyp stscssaalh ichavillql
      421 wlgpqpfpks tqhskkah
//
LOCUS       NP_757364                490 aa            linear   PRI 14-MAR-2023
DEFINITION  calcium/calmodulin-dependent protein kinase kinase 2 isoform 6
            [Homo sapiens].
ACCESSION   NP_757364
VERSION     NP_757364.1
DBSOURCE    REFSEQ: accession NM_172215.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 490)
  AUTHORS   Kennedy G, Gibson O, T O'Hare D, Mills IG and Evergren E.
  TITLE     The role of CaMKK2 in Golgi-associated vesicle trafficking
  JOURNAL   Biochem Soc Trans 51 (1), 331-342 (2023)
   PUBMED   36815702
  REMARK    GeneRIF: The role of CaMKK2 in Golgi-associated vesicle
            trafficking.
            Review article
REFERENCE   2  (residues 1 to 490)
  AUTHORS   Tomaszewski WH, Waibl-Polania J, Chakraborty M, Perera J, Ratiu J,
            Miggelbrink A, McDonnell DP, Khasraw M, Ashley DM, Fecci PE,
            Racioppi L, Sanchez-Perez L, Gunn MD and Sampson JH.
  TITLE     Neuronal CaMKK2 promotes immunosuppression and checkpoint blockade
            resistance in glioblastoma
  JOURNAL   Nat Commun 13 (1), 6483 (2022)
   PUBMED   36309495
  REMARK    GeneRIF: Neuronal CaMKK2 promotes immunosuppression and checkpoint
            blockade resistance in glioblastoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 490)
  AUTHORS   Wu F, Hill K, Fang Q, He Z, Zheng H, Wang X, Xiong H and Sha SH.
  TITLE     Traumatic-noise-induced hair cell death and hearing loss is
            mediated by activation of CaMKKbeta
  JOURNAL   Cell Mol Life Sci 79 (5), 249 (2022)
   PUBMED   35438341
  REMARK    GeneRIF: Traumatic-noise-induced hair cell death and hearing loss
            is mediated by activation of CaMKKbeta.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 490)
  AUTHORS   Chen Z, Sun X, Xia Z, Wang J, Guo N and Zhang Y.
  TITLE     CaMKK2 Promotes the Progression of Ovarian Carcinoma through the
            PI3K/PDK1/Akt Axis
  JOURNAL   Comput Math Methods Med 2022, 7187940 (2022)
   PUBMED   35309839
  REMARK    GeneRIF: CaMKK2 Promotes the Progression of Ovarian Carcinoma
            through the PI3K/PDK1/Akt Axis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 490)
  AUTHORS   Merhi F, Alvarez-Valadez K, Trepiana J, Lescoat C, Groppi A, Dupuy
            JW, Soubeyran P, Kroemer G, Vacher P and Djavaheri-Mergny M.
  TITLE     Targeting CAMKK2 and SOC Channels as a Novel Therapeutic Approach
            for Sensitizing Acute Promyelocytic Leukemia Cells to All-Trans
            Retinoic Acid
  JOURNAL   Cells 10 (12), 3364 (2021)
   PUBMED   34943872
  REMARK    GeneRIF: Targeting CAMKK2 and SOC Channels as a Novel Therapeutic
            Approach for Sensitizing Acute Promyelocytic Leukemia Cells to
            All-Trans Retinoic Acid.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 490)
  AUTHORS   Hawley SA, Pan DA, Mustard KJ, Ross L, Bain J, Edelman AM,
            Frenguelli BG and Hardie DG.
  TITLE     Calmodulin-dependent protein kinase kinase-beta is an alternative
            upstream kinase for AMP-activated protein kinase
  JOURNAL   Cell Metab 2 (1), 9-19 (2005)
   PUBMED   16054095
  REMARK    GeneRIF: There is a significant basal activity and phosphorylation
            of AMPK in LKB1-deficient cells that can be stimulated by Ca2+
            ionophores, and studies using the CaMKK inhibitor STO-609 and
            isoform-specific siRNAs show that CaMKKbeta is required for this
            effect
REFERENCE   7  (residues 1 to 490)
  AUTHORS   Ishikawa Y, Tokumitsu H, Inuzuka H, Murata-Hori M, Hosoya H and
            Kobayashi R.
  TITLE     Identification and characterization of novel components of a
            Ca2+/calmodulin-dependent protein kinase cascade in HeLa cells
  JOURNAL   FEBS Lett 550 (1-3), 57-63 (2003)
   PUBMED   12935886
REFERENCE   8  (residues 1 to 490)
  AUTHORS   Hsu LS, Chen GD, Lee LS, Chi CW, Cheng JF and Chen JY.
  TITLE     Human Ca2+/calmodulin-dependent protein kinase kinase beta gene
            encodes multiple isoforms that display distinct kinase activity
  JOURNAL   J Biol Chem 276 (33), 31113-31123 (2001)
   PUBMED   11395482
REFERENCE   9  (residues 1 to 490)
  AUTHORS   Anderson KA, Means RL, Huang QH, Kemp BE, Goldstein EG, Selbert MA,
            Edelman AM, Fremeau RT and Means AR.
  TITLE     Components of a calmodulin-dependent protein kinase cascade.
            Molecular cloning, functional characterization and cellular
            localization of Ca2+/calmodulin-dependent protein kinase kinase
            beta
  JOURNAL   J Biol Chem 273 (48), 31880-31889 (1998)
   PUBMED   9822657
REFERENCE   10 (residues 1 to 490)
  AUTHORS   Hsu LS, Tsou AP, Chi CW, Lee CH and Chen JY.
  TITLE     Cloning, expression and chromosomal localization of human
            Ca2+/calmodulin-dependent protein kinase kinase
  JOURNAL   J Biomed Sci 5 (2), 141-149 (1998)
   PUBMED   9662074
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC069209.38 and AF287631.1.
            
            Summary: The product of this gene belongs to the Serine/Threonine
            protein kinase family, and to the Ca(2+)/calmodulin-dependent
            protein kinase subfamily. The major isoform of this gene plays a
            role in the calcium/calmodulin-dependent (CaM) kinase cascade by
            phosphorylating the downstream kinases CaMK1 and CaMK4. Protein
            products of this gene also phosphorylate AMP-activated protein
            kinase (AMPK). This gene has its strongest expression in the brain
            and influences signalling cascades involved with learning and
            memory, neuronal differentiation and migration, neurite outgrowth,
            and synapse formation. Alternative splicing results in multiple
            transcript variants encoding distinct isoforms. The identified
            isoforms differ in their ability to undergo autophosphorylation and
            to phosphorylate downstream kinases. [provided by RefSeq, Jul
            2012].
            
            Transcript Variant: This variant (6), also known as beta 2del14,
            differs in the 3' UTR and has multiple coding region differences,
            compared to variant 1. This results in a shorter isoform (6) with a
            distinct C-terminus, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF321385.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..490
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     Protein         1..490
                     /product="calcium/calmodulin-dependent protein kinase
                     kinase 2 isoform 6"
                     /EC_number="2.7.11.17"
                     /note="CAMKK beta protein; calcium/calmodulin-dependent
                     protein kinase beta; caM-KK 2; caM-KK beta;
                     calcium/calmodulin-dependent protein kinase kinase 2,
                     beta; caM-kinase kinase 2; caM-kinase kinase beta"
                     /calculated_mol_wt=53993
     Region          162..442
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(171..174,177,179,192,194,249,267..270,312,316..317,
                     319,329..330)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     CDS             1..490
                     /gene="CAMKK2"
                     /gene_synonym="CAMKK; CAMKKB"
                     /coded_by="NM_172215.3:341..1813"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS53837.1"
                     /db_xref="GeneID:10645"
                     /db_xref="HGNC:HGNC:1470"
                     /db_xref="MIM:615002"
ORIGIN      
        1 msscvssqps snraapqdel ggrgsssses qkpcealrgl sslsihlgme sfivvtecep
       61 gcavdlglar drpleadgqe vpldtsgsqa rphlsgrkls lqersqggla aggsldmngr
      121 cicpslpysp vsspqssprl prrptveshh vsitgmqdcv qlnqytlkde igkgsygvvk
      181 laynendnty yamkvlskkk lirqagfprr ppprgtrpap ggciqprgpi eqvyqeiail
      241 kkldhpnvvk lvevlddpne dhlymvfelv nqgpvmevpt lkplsedqar fyfqdlikgi
      301 eylhyqkiih rdikpsnllv gedghikiad fgvsnefkgs dallsntvgt pafmapesls
      361 etrkifsgka ldvwamgvtl ycfvfgqcpf mderimclhs kiksqalefp dqpdiaedlk
      421 dlitrmldkn pesrivvpei kilvktmirk rsfgnpfegs rreerslsap gnlltkkptr
      481 eceslselkt
//
LOCUS       NP_001453                351 aa            linear   PRI 15-MAR-2023
DEFINITION  N-formyl peptide receptor 2 [Homo sapiens].
ACCESSION   NP_001453
VERSION     NP_001453.1
DBSOURCE    REFSEQ: accession NM_001462.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 351)
  AUTHORS   Lee C, Han J and Jung Y.
  TITLE     Formyl peptide receptor 2 is an emerging modulator of inflammation
            in the liver
  JOURNAL   Exp Mol Med 55 (2), 325-332 (2023)
   PUBMED   36750693
  REMARK    GeneRIF: Formyl peptide receptor 2 is an emerging modulator of
            inflammation in the liver.
            Review article
REFERENCE   2  (residues 1 to 351)
  AUTHORS   Huang K, Wang Z, He Z, Li Y, Li S, Shen K, Zhu G, Liu Z, Lv S,
            Zhang C, Yang H, Yang X and Liu S.
  TITLE     Downregulated formyl peptide receptor 2 expression in the
            epileptogenic foci of patients with focal cortical dysplasia type
            IIb and tuberous sclerosis complex
  JOURNAL   Immun Inflamm Dis 10 (11), e706 (2022)
   PUBMED   36301030
  REMARK    GeneRIF: Downregulated formyl peptide receptor 2 expression in the
            epileptogenic foci of patients with focal cortical dysplasia type
            IIb and tuberous sclerosis complex.
REFERENCE   3  (residues 1 to 351)
  AUTHORS   Filiberto AC, Ladd Z, Leroy V, Su G, Elder CT, Pruitt EY, Hensley
            SE, Lu G, Hartman JB, Zarrinpar A, Sharma AK and Upchurch GR Jr.
  TITLE     Resolution of inflammation via RvD1/FPR2 signaling mitigates Nox2
            activation and ferroptosis of macrophages in experimental abdominal
            aortic aneurysms
  JOURNAL   FASEB J 36 (11), e22579 (2022)
   PUBMED   36183323
  REMARK    GeneRIF: Resolution of inflammation via RvD1/FPR2 signaling
            mitigates Nox2 activation and ferroptosis of macrophages in
            experimental abdominal aortic aneurysms.
REFERENCE   4  (residues 1 to 351)
  AUTHORS   Wang T, Liu G, Guo X and Ji W.
  TITLE     Single-Cell Analysis Reveals the Role of the Neuropeptide Receptor
            FPR2 in Monocytes in Kawasaki Disease: A Bioinformatic Study
  JOURNAL   Dis Markers 2022, 1666240 (2022)
   PUBMED   35692878
  REMARK    GeneRIF: Single-Cell Analysis Reveals the Role of the Neuropeptide
            Receptor FPR2 in Monocytes in Kawasaki Disease: A Bioinformatic
            Study.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 351)
  AUTHORS   Foo SL, Sachaphibulkij K, Lee CLY, Yap GLR, Cui J, Arumugam T and
            Lim LHK.
  TITLE     Breast cancer metastasis to brain results in recruitment and
            activation of microglia through annexin-A1/formyl peptide receptor
            signaling
  JOURNAL   Breast Cancer Res 24 (1), 25 (2022)
   PUBMED   35382852
  REMARK    GeneRIF: Breast cancer metastasis to brain results in recruitment
            and activation of microglia through annexin-A1/formyl peptide
            receptor signaling.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 351)
  AUTHORS   Nomura H, Nielsen BW and Matsushima K.
  TITLE     Molecular cloning of cDNAs encoding a LD78 receptor and putative
            leukocyte chemotactic peptide receptors
  JOURNAL   Int Immunol 5 (10), 1239-1249 (1993)
   PUBMED   7505609
REFERENCE   7  (residues 1 to 351)
  AUTHORS   Perez HD, Holmes R, Kelly E, McClary J and Andrews WH.
  TITLE     Cloning of a cDNA encoding a receptor related to the formyl peptide
            receptor of human neutrophils
  JOURNAL   Gene 118 (2), 303-304 (1992)
   PUBMED   1511907
REFERENCE   8  (residues 1 to 351)
  AUTHORS   Bao L, Gerard NP, Eddy RL Jr, Shows TB and Gerard C.
  TITLE     Mapping of genes for the human C5a receptor (C5AR), human FMLP
            receptor (FPR), and two FMLP receptor homologue orphan receptors
            (FPRH1, FPRH2) to chromosome 19
  JOURNAL   Genomics 13 (2), 437-440 (1992)
   PUBMED   1612600
REFERENCE   9  (residues 1 to 351)
  AUTHORS   Ye RD, Cavanagh SL, Quehenberger O, Prossnitz ER and Cochrane CG.
  TITLE     Isolation of a cDNA that encodes a novel granulocyte N-formyl
            peptide receptor
  JOURNAL   Biochem Biophys Res Commun 184 (2), 582-589 (1992)
   PUBMED   1374236
REFERENCE   10 (residues 1 to 351)
  AUTHORS   Murphy PM, Ozcelik T, Kenney RT, Tiffany HL, McDermott D and
            Francke U.
  TITLE     A structural homologue of the N-formyl peptide receptor.
            Characterization and chromosome mapping of a peptide
            chemoattractant receptor family
  JOURNAL   J Biol Chem 267 (11), 7637-7643 (1992)
   PUBMED   1373134
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            X63819.1 and D10922.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 both encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M84562.1, X63819.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..351
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     Protein         1..351
                     /product="N-formyl peptide receptor 2"
                     /note="formyl peptide receptor-like 1; lipoxin A4 receptor
                     (formyl peptide receptor related); RFP; FMLP-R-I; LXA4
                     receptor; FMLP-related receptor I"
                     /calculated_mol_wt=38833
     Site            4
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P25090.2)"
     Region          27..313
                     /region_name="7tmA_FPR-like"
                     /note="N-formyl peptide receptors, member of the class A
                     family of seven-transmembrane G protein-coupled receptors;
                     cd15117"
                     /db_xref="CDD:320245"
     Region          28..54
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320245"
     Site            28..50
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2)"
     Region          60..85
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320245"
     Site            62..83
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2)"
     Site            order(81,84..85,98..103,105..106,109,154,156..160,198,
                     201..203,205..207,209..210,254,257..258,260..261,264,
                     280..281,283..285,288,291..292)
                     /site_type="other"
                     /note="putative peptide ligand binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:320245"
     Region          98..128
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320245"
     Site            101..121
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2)"
     Region          140..160
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320245"
     Site            141..162
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2)"
     Region          198..223
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320245"
     Site            206..226
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2)"
     Region          234..264
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320245"
     Site            243..266
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2)"
     Region          281..306
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320245"
     Site            287..306
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2)"
     Region          325..351
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2)"
     CDS             1..351
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
                     /coded_by="NM_001462.3:144..1199"
                     /db_xref="CCDS:CCDS12840.1"
                     /db_xref="GeneID:2358"
                     /db_xref="HGNC:HGNC:3827"
                     /db_xref="MIM:136538"
ORIGIN      
        1 metnfstpln eyeevsyesa gytvlrilpl vvlgvtfvlg vlgnglviwv agfrmtrtvt
       61 ticylnlala dfsftatlpf livsmamgek wpfgwflckl ihivvdinlf gsvfligfia
      121 ldrcicvlhp vwaqnhrtvs lamkvivgpw ilalvltlpv flflttvtip ngdtyctfnf
      181 aswggtpeer lkvaitmlta rgiirfvigf slpmsivaic ygliaakihk kgmikssrpl
      241 rvltavvasf ficwfpfqlv allgtvwlke mlfygkykii dilvnptssl affnsclnpm
      301 lyvfvgqdfr erlihslpts leralsedsa ptndtaansa sppaetelqa m
//
LOCUS       NP_001307909             569 aa            linear   PRI 15-MAR-2023
DEFINITION  interleukin-1 receptor type 1 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001307909 XP_005263986
VERSION     NP_001307909.1
DBSOURCE    REFSEQ: accession NM_001320980.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 569)
  AUTHORS   Jia X, Toda K, He L, Miao D, Yamada S, Yu L and Kodama K.
  TITLE     Expression-based Genome-wide Association Study Links OPN and IL1-RA
            With Newly Diagnosed Type 1 Diabetes in Children
  JOURNAL   J Clin Endocrinol Metab 107 (7), 1825-1832 (2022)
   PUBMED   35460250
  REMARK    GeneRIF: Expression-based Genome-wide Association Study Links OPN
            and IL1-RA With Newly Diagnosed Type 1 Diabetes in Children.
REFERENCE   2  (residues 1 to 569)
  AUTHORS   Umemura T, Fujinaga Y, Ashihara N, Ozawa M, Kuraishi Y, Watanabe T,
            Hamano H, Meguro A, Kawa S and Ota M.
  TITLE     IL1R1 gene variants associate with disease susceptibility to
            IgG4-related periaortitis/periarteritis in IgG4-related disease
  JOURNAL   Gene 820, 146212 (2022)
   PUBMED   35143941
  REMARK    GeneRIF: IL1R1 gene variants associate with disease susceptibility
            to IgG4-related periaortitis/periarteritis in IgG4-related disease.
REFERENCE   3  (residues 1 to 569)
  AUTHORS   Molina-Ayala MA, Rodriguez-Amador V, Suarez-Sanchez R, Leon-Solis
            L, Gomez-Zamudio J, Mendoza-Zubieta V, Cruz M and Suarez-Sanchez F.
  TITLE     Expression of obesity- and type-2 diabetes-associated genes in
            omental adipose tissue of individuals with obesity
  JOURNAL   Gene 815, 146181 (2022)
   PUBMED   34995730
  REMARK    GeneRIF: Expression of obesity- and type-2 diabetes-associated
            genes in omental adipose tissue of individuals with obesity.
REFERENCE   4  (residues 1 to 569)
  AUTHORS   Sivaraj N, K V R, Suvvari TK, Prasad S, Boppana SH and Vegi PK.
  TITLE     Association of IL1R1 gene (SNP rs2071374) with the risk of
            preeclampsia
  JOURNAL   J Reprod Immunol 149, 103463 (2022)
   PUBMED   34923425
  REMARK    GeneRIF: Association of IL1R1 gene (SNP rs2071374) with the risk of
            preeclampsia.
REFERENCE   5  (residues 1 to 569)
  AUTHORS   Chien CY, Tai SY, Li KH, Yang HL, Chan LP, Hsi E, Wang LF, Ho KY
            and Chang NC.
  TITLE     The association of genetic polymorphisms in interleukin-1 receptors
            type 1 and type 2 with sudden sensorineural hearing loss in a
            Taiwanese population: a case control study
  JOURNAL   J Otolaryngol Head Neck Surg 50 (1), 69 (2021)
   PUBMED   34865658
  REMARK    GeneRIF: The association of genetic polymorphisms in interleukin-1
            receptors type 1 and type 2 with sudden sensorineural hearing loss
            in a Taiwanese population: a case control study.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 569)
  AUTHORS   McMahan CJ, Slack JL, Mosley B, Cosman D, Lupton SD, Brunton LL,
            Grubin CE, Wignall JM, Jenkins NA, Brannan CI et al.
  TITLE     A novel IL-1 receptor, cloned from B cells by mammalian expression,
            is expressed in many cell types
  JOURNAL   EMBO J 10 (10), 2821-2832 (1991)
   PUBMED   1833184
REFERENCE   7  (residues 1 to 569)
  AUTHORS   Copeland NG, Silan CM, Kingsley DM, Jenkins NA, Cannizzaro LA,
            Croce CM, Huebner K and Sims JE.
  TITLE     Chromosomal location of murine and human IL-1 receptor genes
  JOURNAL   Genomics 9 (1), 44-50 (1991)
   PUBMED   1672292
REFERENCE   8  (residues 1 to 569)
  AUTHORS   Chua AO and Gubler U.
  TITLE     Sequence of the cDNA for the human fibroblast type interleukin-1
            receptor
  JOURNAL   Nucleic Acids Res 17 (23), 10114 (1989)
   PUBMED   2532321
REFERENCE   9  (residues 1 to 569)
  AUTHORS   Sims JE, Acres RB, Grubin CE, McMahan CJ, Wignall JM, March CJ and
            Dower SK.
  TITLE     Cloning the interleukin 1 receptor from human T cells
  JOURNAL   Proc Natl Acad Sci U S A 86 (22), 8946-8950 (1989)
   PUBMED   2530587
REFERENCE   10 (residues 1 to 569)
  AUTHORS   Uhl J, Newton RC, Giri JG, Sandlin G and Horuk R.
  TITLE     Identification of IL-1 receptors on human monocytes
  JOURNAL   J Immunol 142 (5), 1576-1581 (1989)
   PUBMED   2521881
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB226934.1, AU136426.1,
            M27492.1, AC007271.4 and CB240976.1.
            On Mar 12, 2016 this sequence version replaced XP_005263986.1.
            
            Summary: This gene encodes a cytokine receptor that belongs to the
            interleukin-1 receptor family. The encoded protein is a receptor
            for interleukin-1 alpha, interleukin-1 beta, and interleukin-1
            receptor antagonist. It is an important mediator involved in many
            cytokine-induced immune and inflammatory responses. This gene is
            located in a cluster of related cytokine receptor genes on
            chromosome 2q12. [provided by RefSeq, Dec 2013].
            
            Transcript Variant: This variant (4) is transcribed from a
            downstream promoter compared to variant 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.232012.1,
                                           SRR1660803.35625.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..569
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2-q12.1"
     Protein         1..569
                     /product="interleukin-1 receptor type 1 isoform 1
                     precursor"
                     /EC_number="3.2.2.6"
                     /note="interleukin 1 receptor alpha, type I; interleukin-1
                     receptor alpha; interleukin-1 receptor type I; CD121
                     antigen-like family member A"
                     /calculated_mol_wt=63174
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2247
     mat_peptide     21..569
                     /product="interleukin-1 receptor type 1 isoform 1"
                     /calculated_mol_wt=63174
     Region          24..114
                     /region_name="Ig1_IL1R_like"
                     /note="First immunoglobulin (Ig)-like domain of
                     interleukin-1 receptor (IL1R), and similar domains;
                     cd20991"
                     /db_xref="CDD:409583"
     Region          25..28
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409583"
     Site            order(26,28..33)
                     /site_type="other"
                     /note="antagonist binding site [polypeptide binding]"
                     /db_xref="CDD:409583"
     Region          31..35
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409583"
     Region          39..44
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409583"
     Region          54..58
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409583"
     Region          63..65
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409583"
     Region          73..77
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409583"
     Region          79..83
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409583"
     Region          92..100
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409583"
     Region          103..114
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409583"
     Region          126..219
                     /region_name="Ig2_IL1R_like"
                     /note="Second immunoglobulin (Ig)-like domain of
                     interleukin-1 receptor (IL1R), and similar domains;
                     cd20994"
                     /db_xref="CDD:409586"
     Site            order(126..128,130..133,139,144,146,180,218)
                     /site_type="other"
                     /note="antagonist binding site [polypeptide binding]"
                     /db_xref="CDD:409586"
     Region          128..133
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409586"
     Region          138..142
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409586"
     Region          157..162
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409586"
     Region          165..167
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409586"
     Region          173..177
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409586"
     Region          179..184
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409586"
     Region          193..202
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409586"
     Region          205..218
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409586"
     Region          226..329
                     /region_name="Ig3_IL1R_like"
                     /note="Third immunoglobulin (Ig)-like domain of
                     interleukin-1 receptor (IL1R), and similar domains;
                     cd20932"
                     /db_xref="CDD:409526"
     Region          226..229
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409526"
     Region          234..237
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409526"
     Region          242..251
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409526"
     Region          256..262
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409526"
     Region          264..267
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409526"
     Region          273..282
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409526"
     Region          290..298
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409526"
     Region          309..316
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409526"
     Region          319..329
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409526"
     Region          384..540
                     /region_name="TIR"
                     /note="Toll - interleukin 1 - resistance; smart00255"
                     /db_xref="CDD:214587"
     CDS             1..569
                     /gene="IL1R1"
                     /gene_synonym="CD121A; D2S1473; IL-1R-alpha; IL-1RT1;
                     IL1R; IL1RA; P80"
                     /coded_by="NM_001320980.2:353..2062"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 4"
                     /db_xref="CCDS:CCDS2055.1"
                     /db_xref="GeneID:3554"
                     /db_xref="HGNC:HGNC:5993"
                     /db_xref="MIM:147810"
ORIGIN      
        1 mkvllrlicf iallisslea dkckereeki ilvssaneid vrpcplnpne hkgtitwykd
       61 dsktpvsteq asrihqhkek lwfvpakved sghyycvvrn ssyclrikis akfvenepnl
      121 cynaqaifkq klpvagdggl vcpymeffkn ennelpklqw ykdckpllld nihfsgvkdr
      181 livmnvaekh rgnytchasy tylgkqypit rviefitlee nkptrpvivs panetmevdl
      241 gsqiqlicnv tgqlsdiayw kwngsvided dpvlgedyys venpankrrs tlitvlnise
      301 iesrfykhpf tcfaknthgi daayiqliyp vtnfqkhmig icvtltviiv csvfiykifk
      361 idivlwyrds cydflpikas dgktydayil ypktvgegst sdcdifvfkv lpevlekqcg
      421 yklfiygrdd yvgedivevi nenvkksrrl iiilvretsg fswlggssee qiamynalvq
      481 dgikvvllel ekiqdyekmp esikfikqkh gairwsgdft qgpqsaktrf wknvryhmpv
      541 qrrspsskhq llspatkekl qreahvplg
//
LOCUS       NP_065830               1170 aa            linear   PRI 15-MAR-2023
DEFINITION  WD repeat-containing protein 35 isoform 2 [Homo sapiens].
ACCESSION   NP_065830
VERSION     NP_065830.2
DBSOURCE    REFSEQ: accession NM_020779.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1170)
  AUTHORS   Sekiguchi T, Ishii T, Kobayashi H and Furuno N.
  TITLE     WDR35 is involved in subcellular localization of acetylated tubulin
            in 293T cells
  JOURNAL   Biochem Biophys Res Commun 547, 169-175 (2021)
   PUBMED   33610917
  REMARK    GeneRIF: WDR35 is involved in subcellular localization of
            acetylated tubulin in 293T cells.
REFERENCE   2  (residues 1 to 1170)
  AUTHORS   Walczak-Sztulpa J, Wawrocka A, Stanczyk M, Pesz K, Dudarewicz L,
            Chrul S, Bukowska-Olech E, Wieczorek-Cichecka N, Arts HH, Oud MM,
            Smigiel R, Grenda R, Obersztyn E, Chrzanowska KH and
            Latos-Bielenska A.
  TITLE     Interfamilial clinical variability in four Polish families with
            cranioectodermal dysplasia and identical compound heterozygous
            variants in WDR35
  JOURNAL   Am J Med Genet A 185 (4), 1195-1203 (2021)
   PUBMED   33421337
  REMARK    GeneRIF: Interfamilial clinical variability in four Polish families
            with cranioectodermal dysplasia and identical compound heterozygous
            variants in WDR35.
REFERENCE   3  (residues 1 to 1170)
  AUTHORS   Xu Y, Zhuo Y, Ye M, Li M, Tang X and Zhou L.
  TITLE     Association study of genetic variants at TTC32-WDR35 gene cluster
            with coronary artery disease in Chinese Han population
  JOURNAL   J Clin Lab Anal 35 (2), e23594 (2021)
   PUBMED   33009702
  REMARK    GeneRIF: Association study of genetic variants at TTC32-WDR35 gene
            cluster with coronary artery disease in Chinese Han population.
REFERENCE   4  (residues 1 to 1170)
  AUTHORS   Walczak-Sztulpa J, Wawrocka A, Leszczynska B, Mikulska B, Arts HH,
            Bukowska-Olech E, Daniel M, Krawczynski MR, Latos-Bielenska A and
            Obersztyn E.
  TITLE     Prenatal genetic diagnosis of cranioectodermal dysplasia in a
            Polish family with compound heterozygous variants in WDR35
  JOURNAL   Am J Med Genet A 182 (10), 2417-2425 (2020)
   PUBMED   32804427
  REMARK    GeneRIF: Prenatal genetic diagnosis of cranioectodermal dysplasia
            in a Polish family with compound heterozygous variants in WDR35.
REFERENCE   5  (residues 1 to 1170)
  AUTHORS   Hu Z, Hong S, Zhang Y, Dai H, Lin S, Yi T and Zhuang H.
  TITLE     Down-regulated WDR35 contributes to fetal anomaly via regulation of
            osteogenic differentiation
  JOURNAL   Gene 697, 48-56 (2019)
   PUBMED   30790652
  REMARK    GeneRIF: Results demonstrated that copy number variation (CNV) of
            WDR35 may lead to skeletal dysplasia and fetal anomaly, and that
            down-regulated WDR35 may damage the cilia formation and
            sequentially indirectly regulate Gli signal, which would eventually
            result in negative regulation of osteogenic differentiation.
REFERENCE   6  (residues 1 to 1170)
  AUTHORS   Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns
            MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos S, Delatycki
            MB, Savarirayan R, Jackson IJ and Amor DJ.
  TITLE     Human and mouse mutations in WDR35 cause short-rib polydactyly
            syndromes due to abnormal ciliogenesis
  JOURNAL   Am J Hum Genet 88 (4), 508-515 (2011)
   PUBMED   21473986
  REMARK    GeneRIF: Through structural modeling, we show that WDR35 has strong
            homology to the COPI coatamers involved in vesicular trafficking
            and that short-rib polydactyly mutations affect key structural
            elements in WDR35.
REFERENCE   7  (residues 1 to 1170)
  AUTHORS   Mukhopadhyay S, Wen X, Chih B, Nelson CD, Lane WS, Scales SJ and
            Jackson PK.
  TITLE     TULP3 bridges the IFT-A complex and membrane phosphoinositides to
            promote trafficking of G protein-coupled receptors into primary
            cilia
  JOURNAL   Genes Dev 24 (19), 2180-2193 (2010)
   PUBMED   20889716
REFERENCE   8  (residues 1 to 1170)
  AUTHORS   Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van
            Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers
            NV, Veltman JA and Brunner HG.
  TITLE     Exome sequencing identifies WDR35 variants involved in
            Sensenbrenner syndrome
  JOURNAL   Am J Hum Genet 87 (3), 418-423 (2010)
   PUBMED   20817137
  REMARK    GeneRIF: WDR35 is homologous to TULP4 (from the Tubby superfamily)
            and has previously been characterized as an intraflagellar
            transport component, confirming that Sensenbrenner syndrome is a
            ciliary disorder.
REFERENCE   9  (residues 1 to 1170)
  AUTHORS   Feng GG, Li C, Huang L, Tsunekawa K, Sato Y, Fujiwara Y, Komatsu T,
            Honda T, Fan JH, Goto H, Koide T, Hasegawa T and Ishikawa N.
  TITLE     Naofen, a novel WD40-repeat protein, mediates spontaneous and tumor
            necrosis factor-induced apoptosis
  JOURNAL   Biochem Biophys Res Commun 394 (1), 153-157 (2010)
   PUBMED   20193664
  REMARK    GeneRIF: These results indicated that naofen may function as a
            novel modulator activating caspase-3, and promoting
            TNF-alpha-stimulated apoptosis.
REFERENCE   10 (residues 1 to 1170)
  AUTHORS   Tan,W., Lin,A. and Keppler-Noreuil,K.
  TITLE     Cranioectodermal Dysplasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24027799
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC036659.2, AB037757.2,
            BX476609.1 and BC033951.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 3, 2004 this sequence version replaced NP_065830.1.
            
            Summary: This gene encodes a member of the WD repeat protein
            family. WD repeats are minimally conserved regions of approximately
            40 amino acids typically bracketed by gly-his and trp-asp (GH-WD),
            which may facilitate formation of heterotrimeric or multiprotein
            complexes. Members of this family are involved in a variety of
            cellular processes, including cell cycle progression, signal
            transduction, apoptosis, and gene regulation. Multiple
            alternatively spliced transcript variants encoding distinct
            isoforms have been found for this gene. Two patients with
            Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were
            identified with mutations in this gene, consistent with a possible
            ciliary function.[provided by RefSeq, Sep 2010].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            coding region, as compared to variant 1. The encoded isoform 2 thus
            lacks an internal segment, as compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.1972141.1,
                                           SRR14038193.1859896.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000281405.9/ ENSP00000281405.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1170
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24.1"
     Protein         1..1170
                     /product="WD repeat-containing protein 35 isoform 2"
                     /note="naofen; WD repeat-containing protein 35;
                     intraflagellar transport protein 121 homolog"
                     /calculated_mol_wt=132177
     Region          4..43
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2L0.3)"
     Region          <5..192
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          17..69
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          61..100
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2L0.3)"
     Region          75..113
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          105..143
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2L0.3)"
     Region          118..190
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          147..185
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2L0.3)"
     Region          193..241
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2L0.3)"
     Region          206..251
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          246..288
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2L0.3)"
     Region          256..300
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          306..345
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <818..909
                     /region_name="Clathrin"
                     /note="Region in Clathrin and VPS; cl26078"
                     /db_xref="CDD:452579"
     CDS             1..1170
                     /gene="WDR35"
                     /gene_synonym="CED2; CFAP118; FAP118; IFT121; IFTA1;
                     SRTD7"
                     /coded_by="NM_020779.4:91..3603"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS1695.1"
                     /db_xref="GeneID:57539"
                     /db_xref="HGNC:HGNC:29250"
                     /db_xref="MIM:613602"
ORIGIN      
        1 mffylskkis ipnnvklqcv swnkeqgfia cggedgllkv lkletqtdda klrglaapsn
       61 lsmnqtlegh sgsvqvvtwn eqyqklttsd engliivwml ykgswieemi nnrnksvvrs
      121 mswnadgqki civyedgavi vgsvdgnriw gkdlkgiqls hvtwsadskv llfgmangei
      181 hiydnqgnfm ikmklsclvn vtgaisiagi hwyhgtegyv epdcpclavc fdngrcqimr
      241 hendqnpvli dtgmyvvgiq wnhmgsvlav agfqkaamqd kdvnivqfyt pfgehlgtlk
      301 vpgkeisals weggglkial avdsfiyfan irpnykwgyc sntvvyaytr pdrpeycvvf
      361 wdtknnekyv kyvkglisit tcgdfcilat kadenhpqfv lvlcnsigtp ldpkyidivp
      421 lfvamtkthv iaaskeafyt wqyrvakklt aleinqitrs rkegreriyh vddtpsgsmd
      481 gvldysktiq gtrdpicait asdkilivgr esgtiqrysl pnvgliqkys lncrayqlsl
      541 ncnssrlaii disgvltffd ldarvtdstg qqvvgellkl errdvwdmkw akdnpdlfam
      601 mektrmyvfr nldpeepiqt sgyicnfedl eiksvlldei lkdpehpnkd ylinfeirsl
      661 rdsraliekv gikdasqfie dnphprlwrl laeaalqkld lytaeqafvr ckdyqgikfv
      721 krlgkllses mkqaevvgyf grfeeaerty lemdrrdlai glrlklgdwf rvlqllktgs
      781 gdaddslleq annaigdyfa drqkwlnavq yyvqgrnqer laecyymled yeglenlais
      841 lpenhkllpe iaqmfvrvgm ceqavtaflk csqpkaavdt cvhlnqwnka velaknhsmk
      901 eigsllarya shlleknktl daielyrkan yffdaaklmf kiadeeakkg skplrvkkly
      961 vlsallieqy heqmknaqrg kvkgksseat salaglleee vlsttdrftd nawrgaeayh
     1021 ffilaqrqly egcvdtalkt alhlkdyedi ippveiysll alcacasraf gtcskafikl
     1081 ksletlsseq kqqyedlale iftkhtskdn rkpeldslme ggegklptcv atgspiteyq
     1141 fwmcsvckhg vlaqeishys fcplchspvg
//
LOCUS       NP_001254485             189 aa            linear   PRI 16-MAR-2023
DEFINITION  programmed cell death protein 6 isoform 2 [Homo sapiens].
ACCESSION   NP_001254485
VERSION     NP_001254485.1
DBSOURCE    REFSEQ: accession NM_001267556.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 189)
  AUTHORS   Shih LC, He JL, Chang WS, Hsu CL, Hsia TC, Wang YC, Yang JS, Mong
            MC, Tsai CW and Bau DT.
  TITLE     The Contribution of PDCD6 Polymorphisms to Oral Cancer Risk
  JOURNAL   Cancer Genomics Proteomics 19 (4), 456-463 (2022)
   PUBMED   35732318
  REMARK    GeneRIF: The Contribution of PDCD6 Polymorphisms to Oral Cancer
            Risk.
REFERENCE   2  (residues 1 to 189)
  AUTHORS   Ji W, Zhang L, Xu X and Liu X.
  TITLE     ALG2 regulates type I interferon responses by inhibiting STING
            trafficking
  JOURNAL   J Cell Sci 134 (24) (2021)
   PUBMED   34787301
  REMARK    GeneRIF: ALG2 regulates type I interferon responses by inhibiting
            STING trafficking.
REFERENCE   3  (residues 1 to 189)
  AUTHORS   Zhao L, Zhou N and Zhao P.
  TITLE     Expression level of NEAT1 differentiates benign and malignant
            thyroid nodules by regulating NEAT1/miR-9/PTEN and
            NEAT1/miR-124/PDCD6 signalling
  JOURNAL   Int J Mol Med 46 (5), 1661-1670 (2020)
   PUBMED   32901835
  REMARK    GeneRIF: Expression level of NEAT1 differentiates benign and
            malignant thyroid nodules by regulating NEAT1/miR9/PTEN and
            NEAT1/miR124/PDCD6 signalling.
REFERENCE   4  (residues 1 to 189)
  AUTHORS   Wang X, Wu F, Wang H, Duan X, Huang R, Tuersuntuoheti A, Su L, Yan
            S, Zhao Y, Lu Y, Li K, Yao J, Luo Z, Guo L, Liu J, Chen X, Lu Y, Hu
            H, Li X, Bao M, Bi X, Du B, Miao S, Cai J, Wang L, Zhou H, Ying J,
            Song W and Zhao H.
  TITLE     PDCD6 cooperates with C-Raf to facilitate colorectal cancer
            progression via Raf/MEK/ERK activation
  JOURNAL   J Exp Clin Cancer Res 39 (1), 147 (2020)
   PUBMED   32746883
  REMARK    GeneRIF: PDCD6 cooperates with C-Raf to facilitate colorectal
            cancer progression via Raf/MEK/ERK activation.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 189)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 189)
  AUTHORS   Krebs J and Klemenz R.
  TITLE     The ALG-2/AIP-complex, a modulator at the interface between cell
            proliferation and cell death? A hypothesis
  JOURNAL   Biochim Biophys Acta 1498 (2-3), 153-161 (2000)
   PUBMED   11108958
  REMARK    Review article
REFERENCE   7  (residues 1 to 189)
  AUTHORS   Chen B, Borinstein SC, Gillis J, Sykes VW and Bogler O.
  TITLE     The glioma-associated protein SETA interacts with AIP1/Alix and
            ALG-2 and modulates apoptosis in astrocytes
  JOURNAL   J Biol Chem 275 (25), 19275-19281 (2000)
   PUBMED   10858458
REFERENCE   8  (residues 1 to 189)
  AUTHORS   Tarabykina S, Moller AL, Durussel I, Cox J and Berchtold MW.
  TITLE     Two forms of the apoptosis-linked protein ALG-2 with different
            Ca(2+) affinities and target recognition
  JOURNAL   J Biol Chem 275 (14), 10514-10518 (2000)
   PUBMED   10744743
REFERENCE   9  (residues 1 to 189)
  AUTHORS   Vito P, Pellegrini L, Guiet C and D'Adamio L.
  TITLE     Cloning of AIP1, a novel protein that associates with the
            apoptosis-linked gene ALG-2 in a Ca2+-dependent reaction
  JOURNAL   J Biol Chem 274 (3), 1533-1540 (1999)
   PUBMED   9880530
REFERENCE   10 (residues 1 to 189)
  AUTHORS   Vito P, Lacana E and D'Adamio L.
  TITLE     Interfering with apoptosis: Ca(2+)-binding protein ALG-2 and
            Alzheimer's disease gene ALG-3
  JOURNAL   Science 271 (5248), 521-525 (1996)
   PUBMED   8560270
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK223366.1, BC110291.1 and
            BC012384.1.
            
            Summary: This gene encodes a calcium-binding protein belonging to
            the penta-EF-hand protein family. Calcium binding is important for
            homodimerization and for conformational changes required for
            binding to other protein partners. This gene product participates
            in T cell receptor-, Fas-, and glucocorticoid-induced programmed
            cell death. In mice deficient for this gene product, however,
            apoptosis was not blocked suggesting this gene product is
            functionally redundant. Alternatively spliced transcript variants
            encoding multiple isoforms have been observed for this gene, and a
            pseudogene of this gene is also located on the short arm of
            chromosome 5. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the coding region, but maintains the reading frame, compared to
            variant 1. The encoded isoform (2) is shorter than isoform 1.
            
            Sequence Note: A downstream translational start codon is selected
            for this RefSeq based on its better conservation in mammalian
            species. An upstream in-frame start codon is also present but is
            poorly conserved; use of the upstream start codon would result in a
            protein that is 32 aa longer. Leaky scanning by ribosomes may allow
            translation initiation at the downstream start codon.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.153920.1,
                                           SRR7410570.240716.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..189
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     Protein         1..189
                     /product="programmed cell death protein 6 isoform 2"
                     /note="programmed cell death protein 6; probable
                     calcium-binding protein ALG-2; apoptosis-linked gene 2
                     protein homolog"
                     /calculated_mol_wt=21533
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (O75340.1)"
     Region          27..189
                     /region_name="EFh_PEF_ALG-2"
                     /note="EF-hand, calcium binding motif, found in
                     apoptosis-linked gene 2 protein (ALG-2) and similar
                     proteins; cd16183"
                     /db_xref="CDD:320058"
     Region          27..56
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320058"
     Site            order(36,38,40,47,103,105,107,114,167,169,171)
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:320058"
     Region          64..93
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320058"
     Site            order(71..72,74,91,94..95,121,157,160,163..164,167,170,
                     172)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:320058"
     Region          94..122
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320058"
     Site            order(122,128,131..132,135,156,159..160,162..163,172..179,
                     181..182,185..186,189)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:320058"
     Region          128..157
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320058"
     Region          158..189
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320058"
     CDS             1..189
                     /gene="PDCD6"
                     /gene_synonym="ALG-2; ALG2; PEF1B"
                     /coded_by="NM_001267556.2:76..645"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS58940.1"
                     /db_xref="GeneID:10016"
                     /db_xref="HGNC:HGNC:8765"
                     /db_xref="MIM:601057"
ORIGIN      
        1 maaysyrpgp gagpgpaaga alpdqsflwn vfqrvdkdrs gvisdtelqq alsngtwtpf
       61 npvtvrsiis mfdrenkagv nfseftgvwk yitdwqnvfr tydrdnsgmi dknelkqals
      121 gyrlsdqfhd ilirkfdrqg rgqiafddfi qgcivlqrlt difrrydtdq dgwiqvsyeq
      181 ylsmvfsiv
//
LOCUS       NP_001339831             525 aa            linear   PRI 16-MAR-2023
DEFINITION  arylsulfatase G isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001339831
VERSION     NP_001339831.1
DBSOURCE    REFSEQ: accession NM_001352902.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 525)
  AUTHORS   Igelman AD, Ku C, da Palma MM, Georgiou M, Schiff ER, Lam BL,
            Sankila EM, Ahn J, Pyers L, Vincent A, Ferraz Sallum JM, Zein WM,
            Oh JK, Maldonado RS, Ryu J, Tsang SH, Gorin MB, Webster AR,
            Michaelides M, Yang P and Pennesi ME.
  TITLE     Expanding the clinical phenotype in patients with disease causing
            variants associated with atypical Usher syndrome
  JOURNAL   Ophthalmic Genet 42 (6), 664-673 (2021)
   PUBMED   34223797
  REMARK    GeneRIF: Expanding the clinical phenotype in patients with disease
            causing variants associated with atypical Usher syndrome.
REFERENCE   2  (residues 1 to 525)
  AUTHORS   Fowler NH, El-Rashedy MI, Chishti EA, Vander Kooi CW and Maldonado
            RS.
  TITLE     Multimodal imaging and genetic findings in a case of ARSG-related
            atypical Usher syndrome
  JOURNAL   Ophthalmic Genet 42 (3), 338-343 (2021)
   PUBMED   33629623
  REMARK    GeneRIF: Multimodal imaging and genetic findings in a case of
            ARSG-related atypical Usher syndrome.
REFERENCE   3  (residues 1 to 525)
  AUTHORS   Peter VG, Quinodoz M, Sadio S, Held S, Rodrigues M, Soares M, Sousa
            AB, Coutinho Santos L, Damme M and Rivolta C.
  TITLE     New clinical and molecular evidence linking mutations in ARSG to
            Usher syndrome type IV
  JOURNAL   Hum Mutat 42 (3), 261-271 (2021)
   PUBMED   33300174
  REMARK    GeneRIF: New clinical and molecular evidence linking mutations in
            ARSG to Usher syndrome type IV.
            Erratum:[Hum Mutat. 2022 Dec;43(12):2326-2327. PMID: 36317447]
REFERENCE   4  (residues 1 to 525)
  AUTHORS   Siokas V, Kardaras D, Aloizou AM, Asproudis I, Boboridis KG,
            Papageorgiou E, Spandidos DA, Tsatsakis A, Tsironi EE and Dardiotis
            E.
  TITLE     Lack of Association of the rs11655081 ARSG Gene with Blepharospasm
  JOURNAL   J Mol Neurosci 67 (3), 472-476 (2019)
   PUBMED   30656493
  REMARK    GeneRIF: No association of rs11655081 ARSG with blepharospasm was
            found in a Greek cohort.
REFERENCE   5  (residues 1 to 525)
  AUTHORS   Kowalewski B, Lamanna WC, Lawrence R, Damme M, Stroobants S, Padva
            M, Kalus I, Frese MA, Lubke T, Lullmann-Rauch R, D'Hooge R, Esko JD
            and Dierks T.
  TITLE     Arylsulfatase G inactivation causes loss of heparan sulfate
            3-O-sulfatase activity and mucopolysaccharidosis in mice
  JOURNAL   Proc Natl Acad Sci U S A 109 (26), 10310-10315 (2012)
   PUBMED   22689975
REFERENCE   6  (residues 1 to 525)
  AUTHORS   Hong KW, Go MJ, Jin HS, Lim JE, Lee JY, Han BG, Hwang SY, Lee SH,
            Park HK, Cho YS and Oh B.
  TITLE     Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related
            to blood pressure and/or hypertension in two Korean cohorts
  JOURNAL   J Hum Hypertens 24 (6), 367-372 (2010)
   PUBMED   19960030
  REMARK    GeneRIF: Consistent genetic factors for ATP2B1, CSK, ARSG and CSMD1
            were present, which have been shown to be associated with high
            blood pressure and hypertension in two Korean cohorts.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 525)
  AUTHORS   Frese MA, Schulz S and Dierks T.
  TITLE     Arylsulfatase G, a novel lysosomal sulfatase
  JOURNAL   J Biol Chem 283 (17), 11388-11395 (2008)
   PUBMED   18283100
  REMARK    GeneRIF: Arylsulfatase G is a novel lysosomal sulfatase and its
            expression is tissue-specific with highest expression in liver,
            kidney, and pancreas
REFERENCE   8  (residues 1 to 525)
  AUTHORS   Sardiello M, Annunziata I, Roma G and Ballabio A.
  TITLE     Sulfatases and sulfatase modifying factors: an exclusive and
            promiscuous relationship
  JOURNAL   Hum Mol Genet 14 (21), 3203-3217 (2005)
   PUBMED   16174644
REFERENCE   9  (residues 1 to 525)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   10 (residues 1 to 525)
  AUTHORS   Ferrante P, Messali S, Meroni G and Ballabio A.
  TITLE     Molecular and biochemical characterisation of a novel sulphatase
            gene: Arylsulfatase G (ARSG)
  JOURNAL   Eur J Hum Genet 10 (12), 813-818 (2002)
   PUBMED   12461688
  REMARK    GeneRIF: molecular cloning and biochemical characterization of
            Arylsulfatase G [ARSG]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005332.1, AC007780.10 and
            CA308403.1.
            
            Summary: The protein encoded by this gene belongs to the sulfatase
            enzyme family. Sulfatases hydrolyze sulfate esters from sulfated
            steroids, carbohydrates, proteoglycans, and glycolipids. They are
            involved in hormone biosynthesis, modulation of cell signaling, and
            degradation of macromolecules. This protein displays arylsulfatase
            activity at acidic pH, as is typical of lysosomal sulfatases, and
            has been shown to localize in the lysosomes. Alternatively spliced
            transcript variants have been found for this gene. [provided by
            RefSeq, Jun 2012].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.203853.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..525
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.2"
     Protein         1..525
                     /product="arylsulfatase G isoform 1 precursor"
                     /EC_number="3.1.6.1"
                     /EC_number="3.1.6.15"
                     /note="ASG; N-sulfoglucosamine-3-sulfatase"
                     /calculated_mol_wt=55311
     sig_peptide     1..16
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96EG1.1)"
                     /calculated_mol_wt=1768
     mat_peptide     17..525
                     /product="Arylsulfatase G. /id=PRO_0000042215"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96EG1.1)"
                     /calculated_mol_wt=55311
     Region          35..469
                     /region_name="ARSG"
                     /note="arylsulfatase G; cd16161"
                     /db_xref="CDD:293780"
     Site            order(44..45,84,137,139,162,251,302..303,333..334)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:293780"
     Site            order(84,137,139,162,251,333..334)
                     /site_type="other"
                     /note="putative substrate binding site [chemical binding]"
                     /db_xref="CDD:293780"
     Site            117
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96EG1.1)"
     Site            215
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96EG1.1)"
     Site            356
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96EG1.1)"
     Site            497
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96EG1.1)"
     CDS             1..525
                     /gene="ARSG"
                     /gene_synonym="USH4"
                     /coded_by="NM_001352902.2:685..2262"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 6"
                     /db_xref="CCDS:CCDS11676.1"
                     /db_xref="GeneID:22901"
                     /db_xref="HGNC:HGNC:24102"
                     /db_xref="MIM:610008"
ORIGIN      
        1 mgwlflkvll agvsfsgfly plvdfcisgk trgqkpnfvi iladdmgwgd lganwaetkd
       61 tanldkmase gmrfvdfhaa astcspsras lltgrlglrn gvtrnfavts vgglplnett
      121 laevlqqagy vtgiigkwhl ghhgsyhpnf rgfdyyfgip yshdmgctdt pgynhppcpa
      181 cpqgdgpsrn lqrdcytdva lplyenlniv eqpvnlssla qkyaekatqf iqrastsgrp
      241 fllyvalahm hvplpvtqlp aaprgrslyg aglwemdslv gqikdkvdht vkentflwft
      301 gdngpwaqkc elagsvgpft gfwqtrqggs pakqttwegg hrvpalaywp grvpvnvtst
      361 allsvldifp tvvalaqasl pqgrrfdgvd vsevlfgrsq pghrvlfhpn sgaagefgal
      421 qtvrleryka fyitggarac dgstgpelqh kfplifnled dtaeavpler ggaeyqavlp
      481 evrkvladvl qdiandniss adytqdpsvt pccnpyqiac rcqaa
//
LOCUS       NP_001159867             386 aa            linear   PRI 17-MAR-2023
DEFINITION  carbohydrate sulfotransferase 4 [Homo sapiens].
ACCESSION   NP_001159867
VERSION     NP_001159867.1
DBSOURCE    REFSEQ: accession NM_001166395.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 386)
  AUTHORS   Yu SY, Hsiao CT, Izawa M, Yusa A, Ishida H, Nakamura S, Yagi H,
            Kannagi R and Khoo KH.
  TITLE     Distinct substrate specificities of human
            GlcNAc-6-sulfotransferases revealed by mass spectrometry-based
            sulfoglycomic analysis
  JOURNAL   J Biol Chem 293 (39), 15163-15177 (2018)
   PUBMED   30093410
  REMARK    GeneRIF: mRNA transcript analyses on the genes involved in
            synthesizing GlcNAc-6-O-sulfated glycans in human colon cancer
            tissues indicated that GlcNAc6ST-2 (CHST4) is preferentially
            expressed in cancer cells ...  GlcNAc6ST-3 (CHST5) was only
            expressed in nonmalignant epithelial cells, whereas GlcNAc6ST-1
            (CHST2) was expressed equally in both cancerous and nonmalignant
            epithelial cells.
REFERENCE   2  (residues 1 to 386)
  AUTHORS   Hoshino H, Ohta M, Ito M, Uchimura K, Sakai Y, Uehara T, Low S,
            Fukushima M and Kobayashi M.
  TITLE     Apical membrane expression of distinct sulfated glycans represents
            a novel marker of cholangiolocellular carcinoma
  JOURNAL   Lab Invest 96 (12), 1246-1255 (2016)
   PUBMED   27748735
  REMARK    GeneRIF: Data suggest that GlcNAc6ST-2 (CHST4) is critical for
            biosynthesis of MECA-79 sulfated glycans in apical membranes of
            small-sized intrahepatic bile ducts and of cholangiolocellular
            carcinoma (CoCC) cells; MUC1 protein decorated with
            GlcNAc6ST-2-dependent MECA-79 sulfated glycans may serve as a
            useful CoCC marker.
REFERENCE   3  (residues 1 to 386)
  AUTHORS   Wu ZL, Robey MT, Tatge T, Lin C, Leymarie N, Zou Y and Zaia J.
  TITLE     Detecting O-GlcNAc using in vitro sulfation
  JOURNAL   Glycobiology 24 (8), 740-747 (2014)
   PUBMED   24799377
  REMARK    GeneRIF: A method for O-GlcNAc detection using in vitro sulfation
            with two N-acetylglucosamine (GlcNAc)-specific sulfotransferases,
            carbohydrate sulfotransferase 2 and carbohydrate sulfotransferase
            4.
REFERENCE   4  (residues 1 to 386)
  AUTHORS   Seko A, Kataoka F, Aoki D, Sakamoto M, Nakamura T, Hatae M,
            Yonezawa S and Yamashita K.
  TITLE     N-Acetylglucosamine 6-O-sulfotransferase-2 as a tumor marker for
            uterine cervical and corpus cancer
  JOURNAL   Glycoconj J 26 (8), 1065-1073 (2009)
   PUBMED   19156517
  REMARK    GeneRIF: GlcNAc6ST2 could therefore be a good serological marker
            for detecting early-stage uterine cervical and corpus cancers.
REFERENCE   5  (residues 1 to 386)
  AUTHORS   Uchimura K and Rosen SD.
  TITLE     Sulfated L-selectin ligands as a therapeutic target in chronic
            inflammation
  JOURNAL   Trends Immunol 27 (12), 559-565 (2006)
   PUBMED   17049924
  REMARK    Review article
REFERENCE   6  (residues 1 to 386)
  AUTHORS   Uchimura K, El-Fasakhany FM, Hori M, Hemmerich S, Blink SE, Kansas
            GS, Kanamori A, Kumamoto K, Kannagi R and Muramatsu T.
  TITLE     Specificities of N-acetylglucosamine-6-O-sulfotransferases in
            relation to L-selectin ligand synthesis and tumor-associated enzyme
            expression
  JOURNAL   J Biol Chem 277 (6), 3979-3984 (2002)
   PUBMED   11726653
REFERENCE   7  (residues 1 to 386)
  AUTHORS   Yeh JC, Hiraoka N, Petryniak B, Nakayama J, Ellies LG, Rabuka D,
            Hindsgaul O, Marth JD, Lowe JB and Fukuda M.
  TITLE     Novel sulfated lymphocyte homing receptors and their control by a
            Core1 extension beta 1,3-N-acetylglucosaminyltransferase
  JOURNAL   Cell 105 (7), 957-969 (2001)
   PUBMED   11439191
REFERENCE   8  (residues 1 to 386)
  AUTHORS   Li X, Tu L, Murphy PG, Kadono T, Steeber DA and Tedder TF.
  TITLE     CHST1 and CHST2 sulfotransferase expression by vascular endothelial
            cells regulates shear-resistant leukocyte rolling via L-selectin
  JOURNAL   J Leukoc Biol 69 (4), 565-574 (2001)
   PUBMED   11310842
REFERENCE   9  (residues 1 to 386)
  AUTHORS   Hemmerich S, Lee JK, Bhakta S, Bistrup A, Ruddle NR and Rosen SD.
  TITLE     Chromosomal localization and genomic organization for the
            galactose/ N-acetylgalactosamine/N-acetylglucosamine
            6-O-sulfotransferase gene family
  JOURNAL   Glycobiology 11 (1), 75-87 (2001)
   PUBMED   11181564
REFERENCE   10 (residues 1 to 386)
  AUTHORS   Bistrup A, Bhakta S, Lee JK, Belov YY, Gunn MD, Zuo FR, Huang CC,
            Kannagi R, Rosen SD and Hemmerich S.
  TITLE     Sulfotransferases of two specificities function in the
            reconstitution of high endothelial cell ligands for L-selectin
  JOURNAL   J Cell Biol 145 (4), 899-910 (1999)
   PUBMED   10330415
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA045171.1, BC035282.1 and
            AC010547.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes an N-acetylglucosamine 6-O
            sulfotransferase. The encoded enzyme transfers sulfate from
            3'phosphoadenosine 5'phospho-sulfate to the 6-hydroxyl group of
            N-acetylglucosamine on glycoproteins. This protein is localized to
            the Golgi and is involved in the modification of glycan structures
            on ligands of the lymphocyte homing receptor L-selectin. Alternate
            splicing in the 5' UTR results in multiple transcript variants that
            encode the same protein. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (2) has an alternate 5' UTR exon,
            as compared to variant 1. Variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC035282.1, AF280088.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000539698.4/ ENSP00000441204.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..386
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.2"
     Protein         1..386
                     /product="carbohydrate sulfotransferase 4"
                     /EC_number="2.8.2.-"
                     /note="N-acetylglucosamine 6-O-sulfotransferase 2;
                     carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4;
                     high endothelial cells N-acetylglucosamine
                     6-O-sulfotransferase; L-selectin ligand sulfotransferase;
                     galactose/N-acetylglucosamine/N-acetylgalactosamine
                     6-O-sulfotransferase 3; GST-3; gn6st-2; glcNAc6ST-2;
                     HEC-GlcNAc6ST;
                     galactose/N-acetylglucosamine/N-acetylglucosamine
                     6-O-sulfotransferase 3"
                     /calculated_mol_wt=45003
     Site            8..28
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCG5.2)"
     Site            30
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NCG5.2)"
     Region          <171..358
                     /region_name="Sulfotransfer_3"
                     /note="Sulfotransferase family; cl21551"
                     /db_xref="CDD:451306"
     Site            308
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NCG5.2)"
     Site            329
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NCG5.2)"
     CDS             1..386
                     /gene="CHST4"
                     /gene_synonym="GlcNAc6ST2; GST3; HECGLCNAC6ST; LSST"
                     /coded_by="NM_001166395.2:89..1249"
                     /db_xref="CCDS:CCDS10902.1"
                     /db_xref="GeneID:10164"
                     /db_xref="HGNC:HGNC:1972"
ORIGIN      
        1 mllpkkmkll lflvsqmail alffhmyshn isslsmkaqp ermhvlvlss wrsgssfvgq
       61 lfgqhpdvfy lmepawhvwm tfkqstawml hmavrdlira vflcdmsvfd aymepgprrq
      121 sslfqwensr alcsapacdi ipqdeiipra hcrllcsqqp fevvekacrs yshvvlkevr
      181 ffnlqslypl lkdpslnlhi vhlvrdprav frsrertkgd lmidsrivmg qheqklkked
      241 qpyyvmqvic qsqleiykti qslpkalqer yllvryedla rapvaqtsrm yefvgleflp
      301 hlqtwvhnit rgkgmgdhaf htnardalnv sqawrwslpy ekvsrlqkac gdamnllgyr
      361 hvrseqeqrn llldllstwt vpeqih
//
LOCUS       NP_001361206             638 aa            linear   PRI 17-MAR-2023
DEFINITION  prolyl endopeptidase-like isoform 4 [Homo sapiens].
ACCESSION   NP_001361206 XP_011531504
VERSION     NP_001361206.1
DBSOURCE    REFSEQ: accession NM_001374277.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 638)
  AUTHORS   Shchagina O, Bessonova L, Bychkov I, Beskorovainaya T and Poliakov
            A.
  TITLE     A Family Case of Congenital Myasthenic Syndrome-22 Induced by
            Different Combinations of Molecular Causes in Siblings
  JOURNAL   Genes (Basel) 11 (7), 821 (2020)
   PUBMED   32707643
  REMARK    GeneRIF: A Family Case of Congenital Myasthenic Syndrome-22 Induced
            by Different Combinations of Molecular Causes in Siblings.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 638)
  AUTHORS   Silva S, Miyake N, Tapia C and Matsumoto N.
  TITLE     The second point mutation in PREPL: a case report and literature
            review
  JOURNAL   J Hum Genet 63 (5), 677-681 (2018)
   PUBMED   29483676
  REMARK    GeneRIF: we report the first homozygous PREPL point mutation in a
            girl with typical PREPL deficiency. This syndrome should be
            considered in the differential diagnosis of hypotonic neonates
            exhibiting myasthenic symptoms, hyperphagia, and various degrees of
            ID.
            Review article
REFERENCE   3  (residues 1 to 638)
  AUTHORS   Regal L, Martensson E, Maystadt I, Voermans N, Lederer D, Burlina
            A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T,
            Schouten M, Meulemans S, Jonson T, Francois I, Gil Ortega D,
            Kamsteeg EJ and Creemers JWM.
  TITLE     PREPL deficiency: delineation of the phenotype and development of a
            functional blood assay
  JOURNAL   Genet Med 20 (1), 109-118 (2018)
   PUBMED   28726805
REFERENCE   4  (residues 1 to 638)
  AUTHORS   Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET,
            Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK,
            Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS,
            Rensvold JW, Taylor RW, Prokisch H, Kim JP, Coon JJ and Pagliarini
            DJ.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   5  (residues 1 to 638)
  AUTHORS   Regal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW
            and Engel AG.
  TITLE     PREPL deficiency with or without cystinuria causes a novel
            myasthenic syndrome
  JOURNAL   Neurology 82 (14), 1254-1260 (2014)
   PUBMED   24610330
REFERENCE   6  (residues 1 to 638)
  AUTHORS   Parvari R, Gonen Y, Alshafee I, Buriakovsky S, Regev K and
            Hershkovitz E.
  TITLE     The 2p21 deletion syndrome: characterization of the transcription
            content
  JOURNAL   Genomics 86 (2), 195-211 (2005)
   PUBMED   15913950
REFERENCE   7  (residues 1 to 638)
  AUTHORS   Kim DK, Kanai Y, Choi HW, Tangtrongsup S, Chairoungdua A, Babu E,
            Tachampa K, Anzai N, Iribe Y and Endou H.
  TITLE     Characterization of the system L amino acid transporter in T24
            human bladder carcinoma cells
  JOURNAL   Biochim Biophys Acta 1565 (1), 112-121 (2002)
   PUBMED   12225859
  REMARK    GeneRIF: description of L-leucine transport into bladder carcinoma
            cells
REFERENCE   8  (residues 1 to 638)
  AUTHORS   Parvari R, Brodyansky I, Elpeleg O, Moses S, Landau D and
            Hershkovitz E.
  TITLE     A recessive contiguous gene deletion of chromosome 2p16 associated
            with cystinuria and a mitochondrial disease
  JOURNAL   Am J Hum Genet 69 (4), 869-875 (2001)
   PUBMED   11524703
REFERENCE   9  (residues 1 to 638)
  AUTHORS   Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and
            Morton CC.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
REFERENCE   10 (residues 1 to 638)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016703.7 and AC013717.8.
            On Sep 18, 2019 this sequence version replaced XP_011531504.1.
            
            Summary: The protein encoded by this gene belongs to the prolyl
            oligopeptidase subfamily of serine peptidases. Mutations in this
            gene have been associated with hypotonia-cystinuria syndrome, also
            known as the 2p21 deletion syndrome. Several alternatively spliced
            transcript variants encoding either the same or different isoforms
            have been described for this gene.[provided by RefSeq, Jan 2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1383300.1,
                                           SRR14038196.2347512.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..638
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     Protein         1..638
                     /product="prolyl endopeptidase-like isoform 4"
                     /EC_number="3.4.21.-"
                     /note="putative prolyl oligopeptidase"
                     /calculated_mol_wt=73221
     Region          24..574
                     /region_name="PtrB"
                     /note="Protease II [Amino acid transport and metabolism];
                     COG1770"
                     /db_xref="CDD:224684"
     CDS             1..638
                     /gene="PREPL"
                     /gene_synonym="CMS22"
                     /coded_by="NM_001374277.1:127..2043"
                     /note="isoform 4 is encoded by transcript variant 10"
                     /db_xref="CCDS:CCDS54353.1"
                     /db_xref="GeneID:9581"
                     /db_xref="HGNC:HGNC:30228"
                     /db_xref="MIM:609557"
ORIGIN      
        1 mdafekvrtk letqpqeeye iinvevkhgg fvyyqegccl vrskdeeadn dnyevlfnle
       61 elkldqpfid cirvapdeky vaakirteds eastcviikl sdqpvmeasf pnvssfewvk
      121 deededvlfy tfqrnlrchd vyratfgdnk rnerfytekd psyfvflylt kdsrfltini
      181 mnkttsevwl idglspwdpp vliqkrihgv lyyvehrdde lyiltnvgep tefklmrtaa
      241 dtpaimnwdl fftmkrntkv idldmfkdhc vlflkhsnll yvnvigladd svrslklppw
      301 acgfimdtns dpkncpfqlc spirppkyyt ykfaegklfe etghedpitk tsrvlrleak
      361 skdgklvpmt vfhktdsedl qkkpllvhvy gaygmdlkmn frperrvlvd dgwilaychv
      421 rgggelglqw hadgrltkkl ngladleaci ktlhgqgfsq pslttltafs aggvlagalc
      481 nsnpelvrav tleapfldvl ntmmdttlpl tleeleewgn pssdekhkny ikrycpyqni
      541 kpqhypsihi tayendervp lkgivsytek lkeaiaehak dtgegyqtpn iildiqpggn
      601 hviedshkki taqikflyee lgldstsvfe dlkkylkf
//
LOCUS       NP_001005242             837 aa            linear   PRI 19-MAR-2023
DEFINITION  plakophilin-2 isoform 2a [Homo sapiens].
ACCESSION   NP_001005242
VERSION     NP_001005242.2
DBSOURCE    REFSEQ: accession NM_001005242.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 837)
  AUTHORS   Perez-Hernandez M, van Opbergen CJM, Bagwan N, Vissing CR,
            Marron-Linares GM, Zhang M, Torres Vega E, Sorrentino A, Drici L,
            Sulek K, Zhai R, Hansen FB, Christensen AH, Boesgaard S, Gustafsson
            F, Rossing K, Small EM, Davies MJ, Rothenberg E, Sato PY, Cerrone
            M, Jensen THL, Qvortrup K, Bundgaard H, Delmar M and Lundby A.
  TITLE     Loss of Nuclear Envelope Integrity and Increased Oxidant Production
            Cause DNA Damage in Adult Hearts Deficient in PKP2: A Molecular
            Substrate of ARVC
  JOURNAL   Circulation 146 (11), 851-867 (2022)
   PUBMED   35959657
  REMARK    GeneRIF: Loss of Nuclear Envelope Integrity and Increased Oxidant
            Production Cause DNA Damage in Adult Hearts Deficient in PKP2: A
            Molecular Substrate of ARVC.
REFERENCE   2  (residues 1 to 837)
  AUTHORS   Hylind RJ, Pereira AC, Quiat D, Chandler SF, Roston TM, Pu WT,
            Bezzerides VJ, Seidman JG, Seidman CE and Abrams DJ.
  TITLE     Population Prevalence of Premature Truncating Variants in
            Plakophilin-2 and Association With Arrhythmogenic Right Ventricular
            Cardiomyopathy: A UK Biobank Analysis
  JOURNAL   Circ Genom Precis Med 15 (3), e003507 (2022)
   PUBMED   35536239
  REMARK    GeneRIF: Population Prevalence of Premature Truncating Variants in
            Plakophilin-2 and Association With Arrhythmogenic Right Ventricular
            Cardiomyopathy: A UK Biobank Analysis.
REFERENCE   3  (residues 1 to 837)
  AUTHORS   Hung PF, Chung FP, Hung CL, Lin YJ, Kuo TT, Liao JN, Chen YY, Pan
            CH, Shaw KP and Chen SA.
  TITLE     Decreased Expression of Plakophilin-2 and alphaT-Catenin in
            Arrhythmogenic Right Ventricular Cardiomyopathy: Potential Markers
            for Diagnosis
  JOURNAL   Int J Mol Sci 23 (10), 5529 (2022)
   PUBMED   35628349
  REMARK    GeneRIF: Decreased Expression of Plakophilin-2 and alphaT-Catenin
            in Arrhythmogenic Right Ventricular Cardiomyopathy: Potential
            Markers for Diagnosis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 837)
  AUTHORS   Inoue H, Nakamura S, Higo S, Shiba M, Kohama Y, Kondo T, Kameda S,
            Tabata T, Okuno S, Ikeda Y, Li J, Liu L, Yamazaki S, Takeda M, Ito
            E, Takashima S, Miyagawa S, Sawa Y, Hikoso S and Sakata Y.
  TITLE     Modeling reduced contractility and impaired desmosome assembly due
            to plakophilin-2 deficiency using isogenic iPS cell-derived
            cardiomyocytes
  JOURNAL   Stem Cell Reports 17 (2), 337-351 (2022)
   PUBMED   35063130
  REMARK    GeneRIF: Modeling reduced contractility and impaired desmosome
            assembly due to plakophilin-2 deficiency using isogenic iPS
            cell-derived cardiomyocytes.
REFERENCE   5  (residues 1 to 837)
  AUTHORS   Schmidt A, Langbein L, Pratzel S, Rode M, Rackwitz HR and Franke
            WW.
  TITLE     Plakophilin 3--a novel cell-type-specific desmosomal plaque protein
  JOURNAL   Differentiation 64 (5), 291-306 (1999)
   PUBMED   10374265
REFERENCE   6  (residues 1 to 837)
  AUTHORS   Mertens C, Kuhn C, Moll R, Schwetlick I and Franke WW.
  TITLE     Desmosomal plakophilin 2 as a differentiation marker in normal and
            malignant tissues
  JOURNAL   Differentiation 64 (5), 277-290 (1999)
   PUBMED   10374264
REFERENCE   7  (residues 1 to 837)
  AUTHORS   Bonne S, van Hengel J and van Roy F.
  TITLE     Chromosomal mapping of human armadillo genes belonging to the
            p120(ctn)/plakophilin subfamily
  JOURNAL   Genomics 51 (3), 452-454 (1998)
   PUBMED   9721216
  REMARK    GeneRIF: This paper incorrectly maps the locus to 12p13.  A later
            paper by the primary authors corrects the map location to 12p11
            (PMID:10828611).
REFERENCE   8  (residues 1 to 837)
  AUTHORS   Mertens C, Kuhn C and Franke WW.
  TITLE     Plakophilins 2a and 2b: constitutive proteins of dual location in
            the karyoplasm and the desmosomal plaque
  JOURNAL   J Cell Biol 135 (4), 1009-1025 (1996)
   PUBMED   8922383
REFERENCE   9  (residues 1 to 837)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301690
REFERENCE   10 (residues 1 to 837)
  AUTHORS   McNally,E., MacLeod,H. and Dellefave-Castillo,L.
  TITLE     Arrhythmogenic Right Ventricular Cardiomyopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301310
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB454360.1, BC126199.1,
            AC087588.10 and AW439621.1.
            On Jun 7, 2007 this sequence version replaced NP_001005242.1.
            
            Summary: This gene encodes a member of the arm-repeat (armadillo)
            and plakophilin gene families. Plakophilin proteins contain
            numerous armadillo repeats, localize to cell desmosomes and nuclei,
            and participate in linking cadherins to intermediate filaments in
            the cytoskeleton. This gene may regulate the signaling activity of
            beta-catenin and is required to maintain transcription of genes
            that control intracellular calcium cycling including ryanodine
            receptor 2, ankyrin-B, triadin, and calcium channel,
            voltage-dependent, L type, alpha 1C. Mutations in this gene are
            associated with different inherited cardiac conditions including
            Arrythmogenic Cardiomyopathy, Brugada Syndrome, and Idiopathic
            Ventricular Fibrillation. A processed pseudogene with high
            similarity to this gene has been mapped to chromosome 12p13.
            [provided by RefSeq, May 2022].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC094762.1, SRR14038193.175415.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267764 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000340811.9/ ENSP00000342800.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..837
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     Protein         1..837
                     /product="plakophilin-2 isoform 2a"
                     /calculated_mol_wt=92625
     Site            order(413,417,421,456,460,464,512,516,520)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          430..467
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          477..521
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          680..712
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          720..760
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     CDS             1..837
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /coded_by="NM_001005242.3:47..2560"
                     /note="isoform 2a is encoded by transcript variant 2a"
                     /db_xref="CCDS:CCDS31771.1"
                     /db_xref="GeneID:5318"
                     /db_xref="HGNC:HGNC:9024"
                     /db_xref="MIM:602861"
ORIGIN      
        1 maapgapaey gyirtvlgqq ilgqldsssl alpseaklkl agssgrggqt vkslriqeqv
       61 qqtlarkgrs svgngnlhrt ssvpeyvynl hlvendfvgg rspvpktydm lkagttatye
      121 grwgrgtaqy ssqksveers lrhplrrlei spdssperah ythsdyqysq rsqaghtlhh
      181 qesrraallv ppryarseiv gvsragttsr qrhfdtyhrq yqhgsvsdtv fdsipanpal
      241 ltyprpgtsr smgnlleken yltagltvgq vrplvplqpv tqnrasrssw hqssfhstrt
      301 lreagpsvav dssgrrahlt vgqaaaggsg nllterstft dsqlgnadme mtleravsml
      361 eadhmlpsri saaatfiqhe cfqksearkr vnqlrgilkl lqllkvqned vqravcgalr
      421 nlvfedndnk levaelngvp rllqvlkqtr dletkkqitg llwnlssndk lknlmiteal
      481 ltlteniiip fsgwpegdyp kanglldfdi fynvtgclrn mssagadgrk amrrcdglid
      541 slvhyvrgti adyqpddkat encvcilhnl syqleaelpe kysqniyiqn rniqtdnnks
      601 igcfgsrsrk vkeqyqdvpm peeksnpkgv ewlwhsivir mylsliaksv rnytqeaslg
      661 alqnltagsg pmptsvaqtv vqkesglqht rkmlhvgdps vkktaisllr nlsrnlslqn
      721 eiaketlpdl vsiipdtvps tdlliettas acytlnniiq nsyqnardll ntggiqkima
      781 isagdayasn kaskaasvll yslwahtelh haykkaqfkk tdfvnsrtak ayhslkd
//
LOCUS       XP_047298747             120 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC389831 isoform X1 [Homo sapiens].
ACCESSION   XP_047298747
VERSION     XP_047298747.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442791.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_113901.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..120
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Unknown"
     Protein         1..120
                     /product="uncharacterized protein LOC389831 isoform X1"
                     /calculated_mol_wt=13360
     CDS             1..120
                     /gene="LOC389831"
                     /coded_by="XM_047442791.1:10523..10885"
                     /db_xref="GeneID:389831"
ORIGIN      
        1 mysfpttvve eilslslqli afptvsceil leitsqtnkk qtwetcyahs aeeigiiagk
       61 rihktqavpy icfllrhqfi sqsshvrvea lysllflgtl lqvgkgqevl lkdalrarap
//
LOCUS       XP_047272472            5180 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase UBR4 isoform X41 [Homo sapiens].
ACCESSION   XP_047272472
VERSION     XP_047272472.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416516.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5180
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..5180
                     /product="E3 ubiquitin-protein ligase UBR4 isoform X41"
                     /calculated_mol_wt=573416
     Region          69..1650
                     /region_name="E3_UBR4_N"
                     /note="E3 ubiquitin-protein ligases UBR4 N-terminal;
                     pfam19423"
                     /db_xref="CDD:437255"
     Region          1660..1730
                     /region_name="UBR-box_UBR4"
                     /note="UBR-box found in RING-type E3 ubiquitin-protein
                     ligase UBR4 and similar proteins; cd19680"
                     /db_xref="CDD:439078"
     Site            order(1679,1682,1691,1694,1698..1699,1702,1714,1716,1724)
                     /site_type="other"
                     /note="putative Zn binding site [ion binding]"
                     /db_xref="CDD:439078"
     Region          3657..3701
                     /region_name="DZR"
                     /note="Double zinc ribbon; pfam12773"
                     /db_xref="CDD:432773"
     Region          4364..5160
                     /region_name="E3_UbLigase_R4"
                     /note="E3 ubiquitin-protein ligase UBR4; pfam13764"
                     /db_xref="CDD:433459"
     CDS             1..5180
                     /gene="UBR4"
                     /gene_synonym="p600; RBAF600; ZUBR1"
                     /coded_by="XM_047416516.1:19..15561"
                     /db_xref="GeneID:23352"
                     /db_xref="HGNC:HGNC:30313"
                     /db_xref="MIM:609890"
ORIGIN      
        1 matsggeeaa aaapapgtpa tgadttpgwe vavrpllsas ysafemkelp qlvasviese
       61 seilhhekqy epfyssfval sthyittvcs liprnqlqsv aaackvlief sllrlenpde
      121 acavsqkhli llikglctgc srldrteiit ftammksakl pqtvktlsdv edqkelaspv
      181 spelrqkevq mnflnqltsv fnprtvasqp istqtlvege ndeqsstdqa saiktknvfi
      241 aqnvaslqel ggsekllrvc lnlpyflryi nrfqdavlan sffimpatva datavrngfh
      301 slvidvtmal dtlslpvlep lnpsrlqdvt vlslsclyag vsvatcmail hvgsaqqvrt
      361 gstsskeddy esdaativqk cleiydmigq aisssrragg ehyqnfqllg awcllnslfl
      421 ilnlsptala dkgkekdpla alrvrdilsr tkegvgspkl gpgkghqgfg vlsvilanha
      481 iklltslfqd lqvealhkgw etdgppaals imaqstsiqr iqrlidsvpl mnllltllst
      541 syrkacvlqr qrkgsmssda sastdsntyy eddfssteed ssqdddsepi lgqwfeetis
      601 pskekaappp ppppppless prvkspskqa pgekgnilas rkdpelflgl asnilnfits
      661 smlnsrnnfi rnylsvslse hhmatlasii kevdkdglkg ssdeefaaal yhfnhslvts
      721 dlqspnlqnt llqqlgvapf segpwplyih pqslsvlsrl lliwqhkasa qgdpdvpecl
      781 kvwdrflstm kqnalqgvvp setedlnveh lqmlllifhn ftetgrrail slfvqiiqel
      841 svnmdaqmrf vplilarlll ifdyllhqys kapvylfeqv qhnllsppfg wasgsqdsns
      901 rrattplyhg fkeveenwsk hfssdavphp rfycvlspea seddlnrlds vacdvlfskl
      961 vkydelyaal tallaagsql dtvrrkenkn vtaleacalq yyflilwril gilppsktyi
     1021 nqlsmnspem secdilhtlr wssrlrissy vnwikdhlik qgmkaehass llelasttkc
     1081 ssvkydveiv eeyfarqiss fcsidcttil qlheipslqs iytldaaisk vqvsldehfs
     1141 kmaaetdphk sseitknllp atlqlidtya sftrayllqn fneegttekp skeklqgfaa
     1201 vlaigssrck antlgptlvq nlpssvqtvc eswnnintne fpnigswrna fandtipses
     1261 yisavqaahl gtlcsqslpl aaslkhtlls lvrltgdliv wsdemnppqv irtllpllle
     1321 sstesvaeis snslerilgp aesdeflarv yeklitgcyn ilanhadpns gldesileec
     1381 lqylekqles sqarkameef fsdsgelvqi mmatanenls akfcnrvlkf ftklfqltek
     1441 spnpsllhlc gslaqlacve pvrlqawltr mttsppkdsd qldviqenrq llqllttyiv
     1501 rensqvgegv cavllgtltp matemlangd gtgfpelmvv matlasagqg aghlqlhnaa
     1561 vdwlsrckky lsqknvvekl nanvmhgkhv milectchim syladvtnal sqsngqgpsh
     1621 lsvdgeerai evdsdwveel aveeedsqae dsdedslcnk lctftitqke fmnqhwyhch
     1681 tckmvdgvgv ctvcakvchk dheisyakyg sffcdcgake dgsclalvkr tpssgmsstm
     1741 kesafqsepr iseslvrhas tsspadkakv tisdgkvade ekpkksslcr tvegcreelq
     1801 nqanfsfapl vldmlnflmd aiqtnfqqas avgsssraqq alselhtvek avemtdqlmv
     1861 ptlgsqegaf envrmnysgd qgqtirqlis ahvlrrvamc vlssphgrrq hlavshekgk
     1921 itvlqlsall kqadsskrkl tltrlasapv pftvlsltgn pckedylavc glkdchvltf
     1981 sssgsvsdhl vlhpqlatgn fiikavwlpg sqtelaivta dfvkiydlcv dalsptfyfl
     2041 lpsskirdvt flfneegkni ivimssagyi ytqlmeeass aqqgpfyvtn vleinhedlk
     2101 dsnsqvaggg vsvyyshvlq mlffsycqgk sfaatisrtt levlqlfpin ikssnggskt
     2161 spalcqwsev mnhpglvccv qqttgvplvv mvkpdtfliq eiktlpakak iqdmvairht
     2221 acneqqrttm illcedgslr iymanvents ywlqpslqps svisimkpvr krktatittr
     2281 tssqvtfpid ffehnqqltd vefggndllq vynaqqikhr lnstgmyvan tkpggftiei
     2341 snnnstmvmt gmriqigtqa ierapsyiei fgrtmqlnls rsrwfdfpft reealqadkk
     2401 lnlfigasvd pagvtmidav kiygktkeqf gwpdeppeef psasvsnicp snlnqsngtg
     2461 dsdsaapttt sgtvlerlvv sslealescf avgpiieker nknaaqelat lllslpapas
     2521 vqqqskslla slhtsrsayh shkdqallsk avqclntssk egkdldpevf qrlvitarsi
     2581 aimrpnnlvh ftesklpqme tgmdegkepq kqlegdccsf itqlvnhfwk lhaskpknaf
     2641 lapaclpglt hieatvnalv diihgyctce ldcintaski ymqmllcpdp avsfsckqal
     2701 irvlrprnkr rhvtlpsspr sntpmgdkdd dddddadekm qssgipnggh irqesqeqse
     2761 vdhgdfemvs esmvletaen vnngnpsple allagaegfp pmldippdad detmvelaia
     2821 lslqqdqqgs sssalglqsl glsgqapsss sldagtlsdt tasasddegs taatdgstlr
     2881 tspadhggsv gsesggsavd svagehsvsg rssaygdata eghpagpgsv ssstgaistt
     2941 tghqegdgse gegegetegd vhtsnrlhmv rlmllerllq tlpqlrnvgg vraipymqvi
     3001 lmlttdldge dekdkgaldn llsqliaelg mdkkdvskkn ersalnevhl vvmrllsvfm
     3061 srtksgskss icesssliss ataaallssg avdyclhvlk slleywksqq ndeepvatsq
     3121 llkphttssp pdmspfflrq yvkghaadvf eaytqlltem vlrlpyqikk itdtnsripp
     3181 pvfdhswfyf lseylmiqqt pfvrrqvrkl llficgskek yrqlrdlhtl dshvrgikkl
     3241 leeqgiflra svvtassgsa lqydtlislm ehlkacaeia aqrtinwqkf cikddsvlyf
     3301 llqvsflvde gvspvllqll scalcgskvl aalaassgss sassssapva assgqattqs
     3361 ksstkkskke ekekekdget sgsqedqlct alvnqlnkfa dketliqflr cfllesnsss
     3421 vrwqahcltl hiyrnssksq qellldlmws iwpelpaygr kaaqfvdllg yfslktpqte
     3481 kklkeysqka veilrtqnhi ltnhpnsniy ntlsglvefd gyylesdpcl vcnnpevpfc
     3541 yiklssikvd trytttqqvv kligshtisk vtvkigdlkr tkmvrtinly ynnrtvqaiv
     3601 elknkparwh kakkvqltpg qtevkidlpl pivasnlmie fadfyenyqa stetlqcprc
     3661 sasvpanpgv cgncgenvyq chkcrsinyd ekdpflcnac gfckyarfdf mlyakpccav
     3721 dpieneedrk kavsnintll dkadrvyhql mghrpqlenl lckvneaape kpqddsgtag
     3781 gisstsasvn ryilqlaqey cgdcknsfde lskiiqkvfa srkelleydl qqreaatkss
     3841 rtsvqptfta sqyralsvlg cghtsstkcy gcasavtehc itllralatn palrhilvsq
     3901 glirelfdyn lrrgaaamre evrqlmcllt rdnpeatqqm ndliigkvst alkghwanpd
     3961 lasslqyeml lltdsisked scwelrlrca lslflmavni ktpvvvenit lmclrilqkl
     4021 ikppaptskk nkdvpvealt tvkpycneih aqaqlwlkrd pkasydawkk clpirgidgn
     4081 gkapskselr hlyltekyvw rwkqflsrrg krtspldlkl ghnnwlrqvl ftpatqaarq
     4141 aactiveala tipsrkqqvl dlltsyldel siagecaaey lalyqklits ahwkvylaar
     4201 gvlpyvgnli tkeiarllal eeatlstdlq qgyalksltg llssfveves ikrhfksrlv
     4261 gtvlngylcl rklvvqrtkl idetqdmlle mledmttgte setkafmavc ietakrynld
     4321 dyrtpvfife rlcsiiypee nevteffvtl ekdpqqedfl qgrmpgnpys snepgigplm
     4381 rdiknkicqd cdlvalledd sgmellvnnk iisldlpvae vykkvwcttn egepmrivyr
     4441 mrgllgdate efiesldstt deeedeeevy kmagvmaqcg glecmlnrla girdfkqgrh
     4501 lltvllklfs ycvkvkvnrq qlvklemntl nvmlgtlnla lvaeqeskds ggaavaeqvl
     4561 simeiildes naeplsedkg nllltgdkdq lvmlldqins tfvrsnpsvl qgllriipyl
     4621 sfgevekmqi lverfkpycn fdkydedhsg ddkvfldcfc kiaagiknns nghqlkdlil
     4681 qkgitqnald ymkkhipsak nldadiwkkf lsrpalpfil rllrglaiqh pgtqvligtd
     4741 sipnlhkleq vssdegigtl aenllealre hpdvnkkida arretraekk rmamamrqka
     4801 lgtlgmttne kgqvvtktal lkqmeeliee pgltccicre gykfqptkvl giytftkrva
     4861 leemenkprk qqgystvshf nivhydchla avrlargree wesaalqnan tkcngllpvw
     4921 gphvpesafa tclarhntyl qectgqrept yqlnihdikl lflrfameqs fsadtggggr
     4981 esnihlipyi ihtvlyvlnt tratsreekn lqgfleqpke kwvesafevd gpyyftvlal
     5041 hilppeqwra trveilrrll vtsqaravap ggatrltdka vkdysayrss llfwalvdli
     5101 ynmfkkvpts nteggwscsl aeyirhndmp iyeaadkalk tfqeefmpve tfsefldvag
     5161 llseitdpes flkdllnsvp
//
LOCUS       XP_006711324             281 aa            linear   PRI 20-MAR-2023
DEFINITION  carbonic anhydrase 14 isoform X5 [Homo sapiens].
ACCESSION   XP_006711324
VERSION     XP_006711324.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006711261.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..281
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..281
                     /product="carbonic anhydrase 14 isoform X5"
                     /calculated_mol_wt=31379
     Region          8..222
                     /region_name="alpha_CA"
                     /note="Carbonic anhydrase alpha (vertebrate-like) group.
                     Carbonic anhydrases (CAs) are zinc-containing enzymes that
                     catalyze the reversible hydration of carbon dioxide in a
                     two-step mechanism: a nucleophilic attack of a zinc-bound
                     hydroxide ion on carbon...; cl00012"
                     /db_xref="CDD:444649"
     Site            order(28,51,53,55,66,79,161)
                     /site_type="active"
                     /db_xref="CDD:238200"
     Site            order(53,55,79)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:238200"
     CDS             1..281
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /coded_by="XM_006711261.4:405..1250"
                     /db_xref="GeneID:23632"
                     /db_xref="HGNC:HGNC:1372"
                     /db_xref="MIM:604832"
ORIGIN      
        1 mgvntgrmrp hgydqpgtep ldlhnnghtv qlslpstlyl gglprkyvaa qlhlhwgqkg
       61 spggsehqin seatfaelhi vhydsdsyds lseaaerpqg lavlgiliev getkniayeh
      121 ilshlhevrh kdqktsvppf nlrellpkql gqyfryngsl ttppcyqsvl wtvfyrrsqi
      181 smeqleklqg tlfsteeeps kllvqnyral qplnqrmvfa sfiqagssyt tgemlslgvg
      241 ilvgclclll avyfiarkir kkrlenrksv vftsaqatte a
//
LOCUS       XP_005270806             422 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein Gfi-1 isoform X1 [Homo sapiens].
ACCESSION   XP_005270806
VERSION     XP_005270806.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005270749.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..422
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..422
                     /product="zinc finger protein Gfi-1 isoform X1"
                     /calculated_mol_wt=45166
     Region          <254..416
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          257..278
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          286..306
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          314..334
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(319,321,323,325..326,329..330,333,347,349,353..354,
                     357..358,361,375,377,379,381..382,385..386,389)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          342..362
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          370..390
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          398..417
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..422
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /coded_by="XM_005270749.4:1754..3022"
                     /db_xref="GeneID:2672"
                     /db_xref="HGNC:HGNC:4237"
                     /db_xref="MIM:600871"
ORIGIN      
        1 mprsflvksk kahsyhqprs pgpdyslrle nvpapsrads tsnaggakae prdrlspesq
       61 lteapdrasa spdscegsvc erssefedfw rppspsaspa seksmcpsld eaqpfplpfk
      121 pyswsglags dlrhlvqsyr pcgalergag lglfcepape pghpaalygp kraaggagag
      181 apgscsagag atagpglgly gdfgsaaagl yerptaaagl lyperghglh adkgagvkve
      241 sellctrlll gggsykcikc skvfstphgl evhvrrshsg trpfacemcg ktfghavsle
      301 qhkavhsqer sfdckicgks fkrsstlsth llihsdtrpy pcqycgkrfh qksdmkkhtf
      361 ihtgekphkc qvcgkafsqs snlithsrkh tgfkpfgcdl cgkgfqrkvd lrrhretqhg
      421 lk
//
LOCUS       XP_047275308             431 aa            linear   PRI 20-MAR-2023
DEFINITION  armadillo-like helical domain containing protein 1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047275308
VERSION     XP_047275308.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419352.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..431
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..431
                     /product="armadillo-like helical domain containing protein
                     1 isoform X3"
                     /calculated_mol_wt=47250
     Region          1..268
                     /region_name="DUF5578"
                     /note="Family of unknown function (DUF5578); pfam17741"
                     /db_xref="CDD:436006"
     CDS             1..431
                     /gene="ARMH1"
                     /gene_synonym="C1orf228; NCRNA00082; p40"
                     /coded_by="XM_047419352.1:299..1594"
                     /db_xref="GeneID:339541"
                     /db_xref="HGNC:HGNC:34345"
ORIGIN      
        1 mtsikeqaai srllsflqew dnagkvarsh ildkfietnq gktapeleqe fsqgaslflv
       61 rlttslrity mtdsclekll rsigiflsav ssnryliefl evggvltlle ilglekikee
      121 akkesvkllq viansgrtyk elicesygvr siaeflaksk seetqeevqv lldslvhgnp
      181 kyqnqvykgl iallpcespk aqqlslqtlr taqpiigtth psivdcvlkv lgtmhlevqy
      241 eaielikdlv gydvrqallk glvallipsv keisklqaki lsdpsvlqlt pslpmflqqa
      301 aaakaigasc rcspwwrstc asawgrnsts sswlptrppp atslcqaqlq vqtalapqpg
      361 ppcscpqsna edlymkidsi qadilaantv nvtkalclhg ssysmntlyg srdsaqmayl
      421 thfeedvesk e
//
LOCUS       XP_016857508             421 aa            linear   PRI 20-MAR-2023
DEFINITION  vasculin-like protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_016857508
VERSION     XP_016857508.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002019.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..421
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..421
                     /product="vasculin-like protein 1 isoform X2"
                     /calculated_mol_wt=46100
     Region          325..418
                     /region_name="Vasculin"
                     /note="Vascular protein family Vasculin-like 1; pfam15337"
                     /db_xref="CDD:434646"
     CDS             1..421
                     /gene="GPBP1L1"
                     /gene_synonym="SP192"
                     /coded_by="XM_017002019.3:1265..2530"
                     /db_xref="GeneID:60313"
                     /db_xref="HGNC:HGNC:28843"
ORIGIN      
        1 maqhdfvpaw lnfstpqsak sptatfekhg ehlprgegrf gvsrrrhnss dgffnngplr
       61 tagdswhqps lfrhdsvdsg vskgayagit gnpsgwhsss rghdgmsqrs gggtgnhrhw
      121 ngsfhsrkgc afqekppmei reekkedkve klqfeeedfp slnpeagkqh qpcrpigtps
      181 gvwenppsak qpskmlvikk vskedpaaaf saaftspgsh hangnklssv vpsvyknlvp
      241 kpvpppskpn awkanrmehk sgslsssres aftspisvtk pvvlasgaal sspkeledns
      301 tpepkengee gchqnglalp vveegevlsh sleaehrllk amgwqeypen denclplted
      361 elkefhmkte qlrrngfgkn gflqsrsssl fspwrstcka efedsdtets ssetsdddaw
      421 k
//
LOCUS       XP_016857783             337 aa            linear   PRI 20-MAR-2023
DEFINITION  28S ribosomal protein S29, mitochondrial isoform X5 [Homo sapiens].
ACCESSION   XP_016857783
VERSION     XP_016857783.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002294.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..337
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..337
                     /product="28S ribosomal protein S29, mitochondrial isoform
                     X5"
                     /calculated_mol_wt=38399
     Region          65..332
                     /region_name="DAP3"
                     /note="Mitochondrial ribosomal death-associated protein 3;
                     pfam10236"
                     /db_xref="CDD:431160"
     CDS             1..337
                     /gene="DAP3"
                     /gene_synonym="bMRP-10; DAP-3; MRP-S29; MRPS29; S29mt"
                     /coded_by="XM_017002294.2:333..1346"
                     /db_xref="GeneID:7818"
                     /db_xref="HGNC:HGNC:2673"
                     /db_xref="MIM:602074"
ORIGIN      
        1 mmlkgitrli srihkldpgr flhmgtqarq siaahldnqv pvespraisr tnendpvktf
       61 seaclmvrkp alellhylkn tsfaypairy llygekgtgk tlslchvihf cakqdwlilh
      121 ipdahlwvkn crdllqssyn kqrfdqplea stwlknfktt nerflnqgit rvrnatdavg
      181 ivlkelkrqs slgmfhllva vdginalwgr ttlkredksp iapeelalvh nlrkmmkndw
      241 hggaivsals qtgslfkprk aylpqellgk egfdaldpfi pilvsnynpk efesciqyyl
      301 ennwlqheka pteegkkell flsnanpsll erhcayl
//
LOCUS       XP_011538326             416 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_011538326
VERSION     XP_011538326.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011540024.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..416
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..416
                     /product="pleckstrin homology domain-containing family A
                     member 1 isoform X1"
                     /calculated_mol_wt=47544
     Region          1..117
                     /region_name="PH1_TAPP1_2"
                     /note="Tandem PH-domain-containing proteins 1 and 2
                     Pleckstrin homology (PH) domain, N-terminal repeat;
                     cd13270"
                     /db_xref="CDD:270089"
     Region          185..298
                     /region_name="PH2_TAPP1_2"
                     /note="Tandem PH-domain-containing proteins 1 and 2
                     Pleckstrin homology (PH) domain, C-terminal repeat;
                     cd13271"
                     /db_xref="CDD:270090"
     Site            order(200,202..203,211,222,232..233,265)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:270090"
     CDS             1..416
                     /gene="PLEKHA1"
                     /gene_synonym="TAPP1"
                     /coded_by="XM_011540024.2:611..1861"
                     /db_xref="GeneID:59338"
                     /db_xref="HGNC:HGNC:14335"
                     /db_xref="MIM:607772"
ORIGIN      
        1 mpyvdrqnri cgfldieene nsgkflrryf ildtredsfv wymdnpqnlp sgssrvgaik
       61 ltyiskvsda tklrpkaefc fvmnagmrky flqandqqdl vewvnvlnka ikitvpkqsd
      121 sqpnsdnlsr hgecgkkqvs yrtdivggvp iitptqkeev necgesidrn nlkrsqshlp
      181 yftpkppqds avikagycvk qgavmknwkr ryfqldenti gyfkseleke plrviplkev
      241 hkvqeckqsd immrdnlfei vttsrtfyvq adspeemhsw ikavsgaiva qrgpgrsass
      301 qssmrlsakt vsvgkrkswr ricgrpegcr tlvyrgihqe lvnaaraspr sfriqtrfps
      361 yqrshrhltf hslsqqlfgl nlyhgearil rvscqgqare lqgpdclskr tsfqsd
//
LOCUS       XP_011533202             323 aa            linear   PRI 20-MAR-2023
DEFINITION  leukocyte cell-derived chemotaxin 1 isoform X4 [Homo sapiens].
ACCESSION   XP_011533202
VERSION     XP_011533202.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534900.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..323
                     /product="leukocyte cell-derived chemotaxin 1 isoform X4"
                     /calculated_mol_wt=35727
     Region          131..190
                     /region_name="BRICHOS"
                     /note="BRICHOS domain; cl04394"
                     /db_xref="CDD:446372"
     CDS             1..323
                     /gene="CNMD"
                     /gene_synonym="BRICD3; CHM-I; CHM1; LECT1; MYETS1"
                     /coded_by="XM_011534900.3:39..1010"
                     /db_xref="GeneID:11061"
                     /db_xref="HGNC:HGNC:17005"
                     /db_xref="MIM:605147"
ORIGIN      
        1 mpctsgqrdr sqgaqgvskc ltppaanmte nsdkvpialv gpddvefcsp payatltvkp
       61 ssparllkvg avvlisgavl llfgaigafy fwkgsdshiy nvhytmsing klqdgsmeid
      121 agnnletfkm gsgaeeaiav ndfqnegkim pvkyeensli wvavdqpvkd nsflsskvle
      181 lcgdlpifwl kptypkeiqr errevvrkiv ptttkrphsg prsnpgagrl nnetrpsvqe
      241 dsqafnpdnp yhqqegesmt fdprldhegi cciecrrsyt hcqkiceplg gyypwpynyq
      301 gcrsacrvim pcswwvaril gmv
//
LOCUS       XP_047286549            1312 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger MYM-type protein 2 isoform X4 [Homo sapiens].
ACCESSION   XP_047286549
VERSION     XP_047286549.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430593.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1312
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..1312
                     /product="zinc finger MYM-type protein 2 isoform X4"
                     /calculated_mol_wt=148102
     Region          262..298
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          303..344
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          355..391
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          397..437
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          466..505
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          569..606
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          657..693
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          699..734
                     /region_name="zf-FCS"
                     /note="MYM-type Zinc finger with FCS sequence motif;
                     pfam06467"
                     /db_xref="CDD:428958"
     Region          1127..1295
                     /region_name="DUF3504"
                     /note="Domain of unknown function (DUF3504); pfam12012"
                     /db_xref="CDD:432262"
     CDS             1..1312
                     /gene="ZMYM2"
                     /gene_synonym="FIM; MYM; NECRC; RAMP; SCLL; ZNF198"
                     /coded_by="XM_047430593.1:191..4129"
                     /db_xref="GeneID:7750"
                     /db_xref="HGNC:HGNC:12989"
                     /db_xref="MIM:602221"
ORIGIN      
        1 mcillsavvt wipsldllvf fgmdtssvgg leltdqtpvl lgstamatsl tnvgnsfsgp
       61 anplvsrsnk fqnssveddd dvvfiepvqp pppsvpvvad qrtitftssk neelqgndsk
      121 itpsskelas qkgsvsetiv iddeedmetn qgqeknssnf ierrppetkn rtndvdfsts
      181 sfsrsktktg vgpfnpgrmn vagdvfqnge sathhnpdsw isqsasfprn qkqpgvdsls
      241 pvaslpkqif qpsvqqqptk pvkvtcanck kplqkgqtay qrkgsahlfc sttclssfsh
      301 kpapkklcvm ckkdittmkg tivaqvdsse sfqefcstsc lslyedkqnp tkgalnksrc
      361 ticgklteir hevsfknmth klcsdhcfnr yrmanglimn cceqcgeylp skgagnnvlv
      421 idgqqkrfcc qscvseykqv gshpsflkev rdhmqdsflm qpekygkltt ctgcrtqcrf
      481 fdmtqcigpn gymepycsta cmnshktkya ksqslgiich fckrnslpqy qatmpdgkly
      541 nfcnsscvak fqalsmqssp ngqfvapsdi qlkcnyckns fcskpeilew enkvhqfcsk
      601 tcsddykklh civtyceycq eektlhetvn fsgvkrpfcs egckllykqd farrlglrcv
      661 tcnycsqlck kgatkeldgv vrdfcsedcc kkfqdwyyka arcdccksqg tlkervqwrg
      721 emkhfcdqhc llrfycqqne pnmttqkgpe nlhydqgcqt srtkmtgsap ppsptpnkem
      781 knkavlckpl tmtkatyckp hmqtkscqtd dtwrteyvpv pipvpvyipv pmhmysqnip
      841 vpttvpvpvp vpvflpapld ssekipaaie elkskvssda ldtelltmtd mmsedegkte
      901 ttninsviie tdiigsdllk nsdpetqssm pdvpyepdld ieidfpraae eldmenefll
      961 ppvfgeeyee qprprskkkg akrkavsgyq shddssdnse csfpfkytyg vnawkhwvkt
     1021 rqldedllvl delkssksvk lkedllshtt aelnyglahf vneirrpnge nyapdsiyyl
     1081 clgiqeylcg snrkdnifid pgyqtfeqel nkilrswqps ilpdgsifsr veedylwrik
     1141 qlgshspval lntlfyfntk yfglktveqh lrlsfgtvfr hwkknpltme nkaclryqvs
     1201 slcgtdnedk ittgkrkhed depvfeqien tanpsrcpvk mfecylsksp qnlnqrmdvf
     1261 ylqpecssst dspvwytsts ldrntlenml vrvllvkdiy dkdnyelded td
//
LOCUS       XP_005267626             760 aa            linear   PRI 20-MAR-2023
DEFINITION  striatin-3 isoform X2 [Homo sapiens].
ACCESSION   XP_005267626
VERSION     XP_005267626.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005267569.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..760
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..760
                     /product="striatin-3 isoform X2"
                     /calculated_mol_wt=82737
     Region          65..190
                     /region_name="Striatin"
                     /note="Striatin family; pfam08232"
                     /db_xref="CDD:429877"
     Region          438..759
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(442,460,464,470..471,494..495,513,517,523..524,
                     547..548,565,570,576..577,594,612,616,622..623,635..636,
                     661,665,671..672,684..685,702,707,713..714,726..727,749,
                     753,759)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          448..494
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          500..547
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          552..589
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          598..634
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          647..683
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          689..728
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          735..759
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..760
                     /gene="STRN3"
                     /gene_synonym="PPP2R6B; S/G2NA; SG2NA"
                     /coded_by="XM_005267569.5:195..2477"
                     /db_xref="GeneID:29966"
                     /db_xref="HGNC:HGNC:15720"
                     /db_xref="MIM:614766"
ORIGIN      
        1 mdelaggggg gpgmaapprq qqgpggnlgl spggngaagg ggppasegag paagpelsrp
       61 qqytipgilh yiqhewarfe merahwever aelqariafl qgerkgqenl kkdlvrrikm
      121 leyalkqera kyhklkygte lnqgdlkmpt feseetkdte aptapqnsql twkqgrqllr
      181 qylqevgytd tildvrsqrv rsllglsnse pngsvetknl eqilnggesp kqkgqeikrs
      241 sgdvletfnf lenaddsded eendmiegip egkdkhrmnk hkigneglaa dltddpdtee
      301 alkefdflvt aedgegagea rssgdgtewg anrtklydmi adlgddelph ipsgiinqsr
      361 sastrmtdhe garaeeaepi tfpsgggksf imgsddvlls vlglgdladl tvtndadysy
      421 dlpankdafr ktwnpkytlr shfdgvrala fhpvepvlvt asedhtlklw nlqktvpakk
      481 sasldvepiy tfrahigpvl slaissngeq cfsggidati qwwnmpspsv dpydtyepnv
      541 lagtlvghtd avwglaysgi knqllscsad gtvrlwnpqe klpcictyng dkkhgiptsv
      601 dfigcdpahm vtsfntgsav iydletsqsl vilssqvdsg lqsnnhinrv vshptlpvti
      661 tahedrhikf fdnktgkmih smvahldavt slavdpngiy lmsgshdcsi rlwnldsktc
      721 vqeitahrkk ldesiydvaf hsskayiasa gadalakvfv
//
LOCUS       XP_005254595             721 aa            linear   PRI 20-MAR-2023
DEFINITION  mitogen-activated protein kinase 6 isoform X1 [Homo sapiens].
ACCESSION   XP_005254595
VERSION     XP_005254595.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005254538.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..721
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..721
                     /product="mitogen-activated protein kinase 6 isoform X1"
                     /calculated_mol_wt=82550
     Region          14..355
                     /region_name="STKc_MAPK4_6"
                     /note="Catalytic domain of the Serine/Threonine Kinases,
                     Mitogen-Activated Protein Kinases 4 (also called ERK4) and
                     6 (also called ERK3); cd07854"
                     /db_xref="CDD:143359"
     Site            order(26..29,31..32,34,47,49,64,78,108..111,114,116..117,
                     152,154,156..157,159,170..171,174,189,191..194,196,234)
                     /site_type="active"
                     /db_xref="CDD:143359"
     Site            order(26..29,31..32,34,47,49,78,108..111,114,117,154,
                     156..157,159,170..171)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:143359"
     Site            order(64,116,152,154,174,189,191..194,196,234)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:143359"
     Site            order(75,112..113,118,128,131,138,160..163,165,319,321,
                     324)
                     /site_type="other"
                     /note="KIM docking site [polypeptide binding]"
                     /db_xref="CDD:143359"
     Site            170..196
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:143359"
     CDS             1..721
                     /gene="MAPK6"
                     /gene_synonym="ERK3; HsT17250; p97MAPK; PRKM6"
                     /coded_by="XM_005254538.3:804..2969"
                     /db_xref="GeneID:5597"
                     /db_xref="HGNC:HGNC:6879"
                     /db_xref="MIM:602904"
ORIGIN      
        1 maekfeslmn ihgfdlgsry mdlkplgcgg nglvfsavdn dcdkrvaikk ivltdpqsvk
       61 halreikiir rldhdnivkv feilgpsgsq ltddvgslte lnsvyivqey metdlanvle
      121 qgplleehar lfmyqllrgl kyihsanvlh rdlkpanlfi ntedlvlkig dfglarimdp
      181 hyshkghlse glvtkwyrsp rlllspnnyt kaidmwaagc ifaemltgkt lfagaheleq
      241 mqlilesipv vheedrqell svipvyirnd mtephkpltq llpgisreal dfleqiltfs
      301 pmdrltaeea lshpymsiys fpmdepissh pfhiedevdd illmdethsh iynweryhdc
      361 qfsehdwpvh nnfdidevql dpralsdvtd eeevqvdprk yldgdrekyl edpafdtnys
      421 tepcwqysdh henkycdlec shtcnyktrs ssyldnlvwr esevnhyyep kliidlsnwk
      481 eqskeksdkk gkskcerngl vkaqialeea sqqlagkere knqgfdfdsf iagtiqlssq
      541 heptdvvdkl ndlnssvsql elkslisksv sqekqekgma nlaqlealyq sswdsqfvsg
      601 gedcffinqf cevrkdeqve kentytsyld kffsrkedte mletepvedg klgergheeg
      661 flnnsgeflf nkqlesigip qfhspvgspl ksiqatltps amksspqiph qtyssilkhl
      721 n
//
LOCUS       XP_047290468             541 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-dependent noradrenaline transporter isoform X4 [Homo
            sapiens].
ACCESSION   XP_047290468
VERSION     XP_047290468.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434512.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..541
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..541
                     /product="sodium-dependent noradrenaline transporter
                     isoform X4"
                     /calculated_mol_wt=59808
     Region          56..>496
                     /region_name="SLC5-6-like_sbd"
                     /note="Solute carrier families 5 and 6-like; solute
                     binding domain; cl00456"
                     /db_xref="CDD:444915"
     Site            order(71,74,415,418..419)
                     /site_type="other"
                     /note="Na binding site [ion binding]"
                     /db_xref="CDD:271356"
     CDS             1..541
                     /gene="SLC6A2"
                     /gene_synonym="NAT1; NET; NET1; SLC6A5"
                     /coded_by="XM_047434512.1:151..1776"
                     /db_xref="GeneID:6530"
                     /db_xref="HGNC:HGNC:11048"
                     /db_xref="MIM:163970"
ORIGIN      
        1 mllarmnpqv qpenngadtg peqplrarkt aellvvkern gvqcllaprd gdaqpretwg
       61 kkidfllsvv gfavdlanvw rfpylcykng ggaflipytl fliiagmplf ymelalgqyn
      121 regaatvwki cpffkgvgya vilialyvgf yynviiawsl yylfssftln lpwtdcghtw
      181 nspnctdpkl lngsvlgnht kyskykftpa aefyergvlh lhessgihdi glpqwqlllc
      241 lmvvvivlyf slwkgvktsg kvvwitatlp yfvlfvllvh gvtlpgasng inaylhidfy
      301 rlkeatvwid aatqiffslg agfgvliafa synkfdnncy rdalltssin citsfvsgfa
      361 ifsilgymah ehkvniedva tegaglvfil ypeaistlsg stfwavvffv mllalgldss
      421 mggmeavitg laddfqvlkr hrklftfgvt fstfllalfc itkggiyvlt lldtfaagts
      481 ilfavlmeai gvswfyvrgc gqhhqlqath lrrlhlpalg qlggvghrpv lhgpgahlrh
      541 l
//
LOCUS       XP_047295318             658 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 135 isoform X3 [Homo sapiens].
ACCESSION   XP_047295318
VERSION     XP_047295318.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439362.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..658
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..658
                     /product="zinc finger protein 135 isoform X3"
                     /calculated_mol_wt=75130
     Region          14..73
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          214..236
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          216..236
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(221,223,225,227..228,231..232,235,249,251,255..256,
                     259..260,263,277,279,281,283..284,287..288,291)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          240..641
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          244..264
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          272..292
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          300..320
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          328..348
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(333,335,337,339..340,343..344,347,361,363,367..368,
                     371..372,375,389,391,393,395..396,399..400,403)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          356..376
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          384..404
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          412..432
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          440..460
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(445,447,449,451..452,455..456,459,473,475,479..480,
                     483..484,487,501,503,505,507..508,511..512,515)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          468..488
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          496..516
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          524..544
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          552..572
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          580..600
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(585,587,589,591..592,595..596,599,613,615,619..620,
                     623..624,627,641,643,645,647..648,651..652,655)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          608..628
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          634..656
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          636..656
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..658
                     /gene="ZNF135"
                     /gene_synonym="pHZ-17; pT3; ZNF61; ZNF78L1"
                     /coded_by="XM_047439362.1:102..2078"
                     /db_xref="GeneID:7694"
                     /db_xref="HGNC:HGNC:12919"
                     /db_xref="MIM:604077"
ORIGIN      
        1 mtpgvrvstd peqvtfedvv vgfsqeewgq lkpaqrtlyr dvmldtfrll vsvghwlpkp
       61 nvislleqea elwavesrlp qgvypdletr pkvklsvlkq giseeisnsv ilverflwdg
      121 lwycrgedte ghwewscesl eslavpvaft pvktpvleqw qrngfgenis lnpdlphqpm
      181 tperqsphtw gtrgkrekpd lnvlqktcvk ekpykcqecg kafshssali ehhrthtger
      241 pyecheclkg frnssaltkh qrihtgekpy kctqcgrtfn qiapliqhqr thtgekpyec
      301 secgksfsfr ssfsqherth tgekpyecse cgkafrqsih ltqhlrihtg ekpyqcgecg
      361 kafshssslt khqrihtgek pyechecgka ftqitpliqh qrthtgekpy ecgecgkafs
      421 qstlltehrr ihtgekpygc necgktfshs sslsqherth tgekpyecsq cgkafrqsth
      481 ltqhqrihtg ekpyecndcg kafshssslt khqrihtgek pyecnqcgra fsqlapliqh
      541 qrihtgekpy ecnqcgrafs qsslliehqr ihtkekpygc necgksfshs sslsqherth
      601 tgekpyechd cgksfrqsth ltqhrrihtg ekpyacrdcg kafthssslt khqrthtg
//
LOCUS       XP_011528297             670 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein EWS isoform X1 [Homo sapiens].
ACCESSION   XP_011528297
VERSION     XP_011528297.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011529995.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..670
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..670
                     /product="RNA-binding protein EWS isoform X1"
                     /calculated_mol_wt=69887
     Region          <72..207
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          362..445
                     /region_name="RRM_EWS"
                     /note="RNA recognition motif (RRM) found in vertebrate
                     Ewing Sarcoma Protein (EWS); cd12533"
                     /db_xref="CDD:409950"
     Region          519..561
                     /region_name="zf-RanBP"
                     /note="Zn-finger in Ran binding protein and others;
                     pfam00641"
                     /db_xref="CDD:395516"
     Region          523..557
                     /region_name="RanBP2-type Zn finger"
                     /note="RanBP2-type Zn finger [structural motif]"
                     /db_xref="CDD:275375"
     CDS             1..670
                     /gene="EWSR1"
                     /gene_synonym="bK984G1.4; EWS; EWS-FLI1"
                     /coded_by="XM_011529995.4:70..2082"
                     /db_xref="GeneID:2130"
                     /db_xref="HGNC:HGNC:3508"
                     /db_xref="MIM:133450"
ORIGIN      
        1 mastdystys qaaaqqgysa ytaqptqgya qttqqaygqq sygtygqptd vsytqaqtta
       61 tygqtayats ygqpptgytt ptapqaysqp vqgygtgayd tttatvtttq asyaaqsayg
      121 tqpaypaygq qpaataptrp qdgnkptets qpqsstggyn qpslgygqsn ysypqvpgsy
      181 pmqpvtapps ypptsysstq ptsydqssys qqntygqpss ygqqssygqq ssygqqppts
      241 yppqtgsysq apsqysqqss sygqqssfrq dhpssmgvyg qesggfsgpg enrsmsgpdn
      301 rgrgrggfdr ggmsrggrgg grggmgsage rggfnkpggp mdegpdldlg ppvdpdedsd
      361 nsaiyvqgln dsvtlddlad ffkqcgvvkm nkrtgqpmih iyldketgkp kgdatvsyed
      421 pptakaavew fdgkdfqgsk lkvslarkkp pmnsmrgglp pregrgmppp lrggpggpgg
      481 pggpmgrmgg rggdrggfpp rgprgsrgnp sgggnvqhra gdwqcpnpsi gdfccdvivc
      541 rgcgnqnfaw rtecnqckap kpegflpppf pppggdrgrg gpggmrggrg glmdrggpgg
      601 mfrggrggdr ggfrggrgmd rggfgggrrg gpggppgplm eqmggrrggr ggpgkmdkge
      661 hrqerrdrpy
//
LOCUS       XP_047303257             685 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin-like modifier-activating enzyme ATG7 isoform X8 [Homo
            sapiens].
ACCESSION   XP_047303257
VERSION     XP_047303257.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447301.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..685
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..685
                     /product="ubiquitin-like modifier-activating enzyme ATG7
                     isoform X8"
                     /calculated_mol_wt=75791
     Region          15..640
                     /region_name="E1_like_apg7"
                     /note="E1-like protein-activating enzyme Gsa7p/Apg7p;
                     TIGR01381"
                     /db_xref="CDD:273590"
     CDS             1..685
                     /gene="ATG7"
                     /gene_synonym="APG7-LIKE; APG7L; GSA7; SCAR31"
                     /coded_by="XM_047447301.1:45..2102"
                     /db_xref="GeneID:10533"
                     /db_xref="HGNC:HGNC:16935"
                     /db_xref="MIM:608760"
ORIGIN      
        1 maaatgdpgl sklqfapfss aldvgfwhel tqkklneyrl deapkdikgy yyngdsaglp
       61 arltlefsaf dmsaptparc cpaigtlynt ntlesfktad kkllleqaan eiwesiksgt
      121 alenpvllnk fllltfadlk kyhfyywfcy palclpeslp liqgpvgldq rfslkqieal
      181 ecaydnlcqt egvtalpyfl ikydenmvlv sllkhysdff qgqrtkitig vydpcnlaqy
      241 pgwplrnflv laahrwsssf qsvevvcfrd rtmqgardva hsiifevklp emafspdcpk
      301 avgweknqkg gmgprmvnls ecmdpkrlae ssvdlnlklm cwrlvptldl dkvvsvkcll
      361 lgagtlgcnv artlmnargf nmsipmpghp vnfssvtleq arrdveqleq lieshdvvfl
      421 lmdtresrwl paviaaskrk lvinaalgfd tfvvmrhglk kpkqqgagdl cpnhpvasad
      481 llgsslfani pgyklgcyfc ndvvapgdst rdrtldqqct vsrpglavia galavelmvs
      541 vlqhpeggya iasssddrmn epptslglvp hqirgflsrf dnvlpvslaf dkctacsskv
      601 ldqyeregfn flakvfnssh sfledltglt llhqetqaae dhlsfirpkn gtfpahqatc
      661 tqesaacpei dlyqlssrti pciht
//
LOCUS       XP_047271782            1073 aa            linear   PRI 20-MAR-2023
DEFINITION  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047271782
VERSION     XP_047271782.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047415826.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1073
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1073
                     /product="inactive ubiquitin carboxyl-terminal hydrolase
                     53 isoform X1"
                     /calculated_mol_wt=120676
     Region          31..348
                     /region_name="UCH"
                     /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443"
                     /db_xref="CDD:425685"
     CDS             1..1073
                     /gene="USP53"
                     /gene_synonym="PFIC7"
                     /coded_by="XM_047415826.1:1248..4469"
                     /db_xref="GeneID:54532"
                     /db_xref="HGNC:HGNC:29255"
                     /db_xref="MIM:617431"
ORIGIN      
        1 mawvkflrkp ggnlgkvyqp gsmlslaptk gllnepgqns cflnsavqvl wqldifrrsl
       61 rvltghvcqg dacifcalkt ifaqfqhsre kalpsdnirh alaesfkdeq rfqlglmdda
      121 aecfenmler ihfhivpsrd admctsksci thqkfamtly eqcvcrscga ssdplpftef
      181 vryisttalc nevermlerh erfkpemfae llqaanttdd yrkcpsncgq kikirrvlmn
      241 cpeivtiglv wdsehsdlte avvrnlathl ylpglfyrvt denaknseln lvgmicytsq
      301 hycafafhtk sskwvffdda nvkeigtrwk dvvskcirch fqplllfyan pdgtavsted
      361 alrqviswsh yksvaenmgc ekpvihksdn lkengfgdqa kqrenqkfpt dnisssnrsh
      421 shtgvgkgpa klshidqrek ikdisrecal kaieqknlls sqrkdlekgq rkdlgrhrdl
      481 vdedlshfqs gsppapngfk qhgnphlyhs qgkgsykhdr vvpqsrasaq iisssksqil
      541 apgekitgkv ksdngtgydt dssqdsrdrg nscdsssksr nrgwkpmret lnvdsifses
      601 ekrqhsprhk pnisnkpkss kdpsfsnwpk enpkqkglmt iyedemkqei gsrsslesng
      661 kgaeknkglv egkvhgdnwq mqrtesgyes sdhisngstn ldspvidgng tvmdisgvke
      721 tvcfsdqitt snlnkergdc tslqsqhhle gfrkelrnle agykshefhp eshlqiknhl
      781 ikrshvhedn gklfpssslq ipkdhnareh ihqsdeqkle kpneckfsew lniensertg
      841 lpfhvdnsas gkrvnsneps slwsshlrtv glkpetapli qqqnimdqcy fenslsteci
      901 irsasrsdgc qmpklfcqnl ppplppkkya itsvpqseks estpdvklte vfkatshlpk
      961 hslstaseps levsthmnde rhketfqvre cfgntpncps ssstndfqan sgaidafcqp
     1021 eldsistcpn etvslttyfs vdscmtdtyr lkyhqrpkls fpessgfcnn sls
//
LOCUS       XP_047271956             693 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 14 isoform X2 [Homo sapiens].
ACCESSION   XP_047271956
VERSION     XP_047271956.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416000.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..693
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..693
                     /product="TBC1 domain family member 14 isoform X2"
                     /calculated_mol_wt=78006
     Region          404..630
                     /region_name="RabGAP-TBC"
                     /note="Rab-GTPase-TBC domain; pfam00566"
                     /db_xref="CDD:425753"
     CDS             1..693
                     /gene="TBC1D14"
                     /coded_by="XM_047416000.1:1048..3129"
                     /db_xref="GeneID:57533"
                     /db_xref="HGNC:HGNC:29246"
                     /db_xref="MIM:614855"
ORIGIN      
        1 mtdgklstst ngvafmgild grpgnplqnl qhvnlkaprl lsapeygpkl klraledrhs
       61 lqsvdsgipt leignpepvp csavhvrrkq sdsdlipera fqsacalpsc appapsster
      121 eqsvrksstf prtgydsvkl ysptskaltr sddvsvcsvs slgtelsttl svsnedildl
      181 vvtssssaiv tlendddpqf tnvtlssike trglhqqdcv heaeegsklk ilgpfsnffa
      241 rnllarkqsa rldkhndlgw klfgkaplre naqkdskriq keyedkagrp skppspkqnv
      301 rknldfepls ttaliledrp anlpakpaee aqkhrqqyee mvvqakkrel keaqrrkkql
      361 eercrveesi gnavltwnne ilpnwetmwc srkvrdlwwq gippsvrgkv wslaigneln
      421 ithelfdicl arakerwrsl stggsevene dagfsaadre aslelikldi srtfpnlcif
      481 qqggpyhdml hsilgaytcy rpdvgyvqgm sfiaavliln ldtadafiaf snllnkpcqm
      541 affrvdhglm ltyfaafevf feenlpklfa hfkknnltpd iylidwiftl yskslpldla
      601 criwdvfcrd geeflfrtal gilklfedil tkmdfihmaq fltrlpedlp aeelfasiat
      661 iqmqsrnkkw aqvltalqkd sremekgsps lrh
//
LOCUS       XP_011530602             653 aa            linear   PRI 20-MAR-2023
DEFINITION  rho GTPase-activating protein 24 isoform X1 [Homo sapiens].
ACCESSION   XP_011530602
VERSION     XP_011530602.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011532300.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..653
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..653
                     /product="rho GTPase-activating protein 24 isoform X1"
                     /calculated_mol_wt=73159
     Region          <1..36
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     Region          36..234
                     /region_name="RhoGAP_ARHGAP22_24_25"
                     /note="GTPase-activator protein (GAP) domain for Rho-like
                     GTPases found in ARHGAP22, 24 and 25-like proteins; longer
                     isoforms of these proteins contain an additional
                     N-terminal pleckstrin homology (PH) domain. ARHGAP25
                     (KIA0053) has been identified as a GAP for...; cd04390"
                     /db_xref="CDD:239855"
     Site            order(80,117,121,192,195..196,220)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239855"
     Site            80
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239855"
     CDS             1..653
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /coded_by="XM_011532300.3:49133..51094"
                     /db_xref="GeneID:83478"
                     /db_xref="HGNC:HGNC:25361"
                     /db_xref="MIM:610586"
ORIGIN      
        1 mtanhesyll mastqndmed wvksirrviw gpfgggifgq kledtvryek rygnrlapml
       61 veqcvdfirq rglkeeglfr lpgqanlvke lqdafdcgek psfdsntdvh tvasllklyl
      121 relpepvipy akyedflsca kllskeeeag vkelakqvks lpvvnynllk yicrfldevq
      181 sysgvnkmsv qnlatvfgpn ilrpkvedpl timegtvvvq qlmsvmiskh dclfpkdael
      241 qskpqdgvsn nneiqkkatm gqlqnkennn tkdspsrqcs wdksespqrs smnngsptal
      301 sgsktnspkn svhkldvsrs pplmvkknpa fnkgsgivtn gsfsssnaeg lektqttpng
      361 slqarrsssl kvsgtkmgth svqngtvrmg ilnsdtlgnp tnvrnmswlp ngyvtlrdnk
      421 qkeqagelgq hnrlstydnv hqqfsmmnld dkqsidsatw stssceislp ensnscrsst
      481 ttcpeqdffg gnfedpvldg ppqddlshpr dyesksdhrs vggrssrats ssdnsetfvg
      541 nsssnhsalh slvsslkqem tkqkieyesr iksleqrnlt letemmslhd eldqerkkft
      601 mieikmrnae rakedaekrn dmlqkemeqf fstfgeltve prrtergnti wiq
//
LOCUS       XP_047272759             915 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 120 kDa isoform X2 [Homo sapiens].
ACCESSION   XP_047272759
VERSION     XP_047272759.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416803.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..915
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..915
                     /product="centrosomal protein of 120 kDa isoform X2"
                     /calculated_mol_wt=104516
     Region          92..314
                     /region_name="DUF3668"
                     /note="Cep120 protein; pfam12416"
                     /db_xref="CDD:432538"
     Region          <569..846
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..915
                     /gene="CEP120"
                     /gene_synonym="CCDC100; JBTS31; SRTD13"
                     /coded_by="XM_047416803.1:430..3177"
                     /db_xref="GeneID:153241"
                     /db_xref="HGNC:HGNC:26690"
                     /db_xref="MIM:613446"
ORIGIN      
        1 mlvveakfdg eqlatdpvdh tdqpefatel aweidrkalh qhrlqrtpik lqcfaldpvt
       61 saketigyiv ldlrtaqetk qapkwyqlls nkytkfksei qisialetdt kppvdsfkak
      121 gapprdgkvp ailagldprd ivavlneegg yhqigpaeyc tdsfimsvti afatqleqli
      181 pctmklperq pefffyysll gndvtnepfn dlinpnfepe rasvrirssv eilrvylalq
      241 sklqihlccg dqslgsteip ltgllkkgst einqhpvtve gaftldppnr akqklapipv
      301 elaptvgvsv alqregidsq spptkddate seveslqydk dtkpnpkass svpaslaqlv
      361 ttsnasevas gqkiavpats hhfcfsidlr sihaleigfp incilrysyp ffgsaapimt
      421 nppvevrknm evflpqsyca fdfatmphql qdtflripll velwhkdkms kdlllgiari
      481 qlsnilssek trflgsngeq cwrqtysesv pviaaqgsnn riadlsytvt ledyglvkmr
      541 eifisdssqg vsavqqkpss lppapcpsei qtepretley kaalelemwk emqedifenq
      601 lkqkelahmq alaeewkkrd rereslvkkk vaeytilegk lqktlidlek reqqlasves
      661 elqrekkelq serqrnlqel qdsirraked cihqvelerl kikqleedkh rlqqqlndae
      721 nkykilekef qqfkdqqnnk peirlqsein lltlekvele rklesatksk lhykqqwgra
      781 lkelarlkqr eqesqmarlk kqqeeleqmr lrylaaeekd tvkterqell dirnelnrlr
      841 qqeqkqyqds teiasgkkdg phgsvleegl ddyltrliee rdtlmrtgvy nhedriisel
      901 drqireilak snasn
//
LOCUS       XP_047275551             611 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and SCAN domain-containing protein 12 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047275551
VERSION     XP_047275551.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419595.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..611
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..611
                     /product="zinc finger and SCAN domain-containing protein
                     12 isoform X1"
                     /calculated_mol_wt=70829
     Region          42..152
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Region          248..268
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          276..296
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          276..296
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Site            order(281,283,285,287..288,291..292,295,309,311,315..316,
                     319..320,323,337,339,341,343..344,347..348,351)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          299..579
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          304..324
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          332..352
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          360..380
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          388..408
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          416..436
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          444..463
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          471..491
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          499..519
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(504,506,508,510..511,514..515,518,532,534,538..539,
                     542..543,546,560,562,564,566..567,570..571,574)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          527..547
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          555..575
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          581..603
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          583..603
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..611
                     /gene="ZSCAN12"
                     /gene_synonym="dJ29K1.2; ZFP96; ZNF29K1; ZNF305; ZNF96"
                     /coded_by="XM_047419595.1:160..1995"
                     /db_xref="GeneID:9753"
                     /db_xref="HGNC:HGNC:13172"
                     /db_xref="MIM:603978"
ORIGIN      
        1 mastwaiqah mdqdeplevk ieeekyttrq dwdlrknnth srevfrqyfr qfcyqetsgp
       61 realsrlrel chqwlrpeth tkeqilellv leqfltilpe elqawvqeqh pesgeevvtv
      121 ledlerelde pgeqvsvhtg eqemflqetv rlrkegepsm slqsmkaqpk yespelesqq
      181 eqvldvetgn eygnlkqevs eemephgkts skfendmsks arcgetrepe eiteepsacs
      241 redkqptcde ngvsltensd htehqricpg eesygcddcg kafsqhshli ehqrihtgdr
      301 pykceecgka frgrtvlirh kiihtgekpy kcnecgkafg rwsalnqhqr lhtgekhyhc
      361 ndcgkafsqk aglfhhikih trdkpyqctq cnksfsrrsi ltqhqgvhtg akpyecnecg
      421 kafvynsslv shqeihhkek cyqckecgks fsqsgliqhq rihtgekpyk cdvcekafiq
      481 rtsltehqri htgerpykcd kcgkaftqrs vltehqriht gerpykcdec gnafrgitsl
      541 iqhqrihtge kpyqcdecgk afrqrsdlsk hqrihnrrgt yvckecgksf rqnsaltqhq
      601 tihkgeksvs v
//
LOCUS       XP_047275717             925 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleotide-binding oligomerization domain-containing protein 1
            isoform X3 [Homo sapiens].
ACCESSION   XP_047275717
VERSION     XP_047275717.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419761.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..925
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..925
                     /product="nucleotide-binding oligomerization
                     domain-containing protein 1 isoform X3"
                     /calculated_mol_wt=104577
     Region          21..105
                     /region_name="CARD_NOD1_CARD4"
                     /note="Caspase activation and recruitment domain similar
                     to that found in NOD1; cd08324"
                     /db_xref="CDD:260035"
     Site            order(26,29..30,33..36,38..40,42,46,87,90..91,93..101,
                     103..104)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:260035"
     Region          197..367
                     /region_name="NACHT"
                     /note="NACHT domain; pfam05729"
                     /db_xref="CDD:428606"
     Region          458..515
                     /region_name="NOD2_WH"
                     /note="NOD2 winged helix domain; pfam17779"
                     /db_xref="CDD:436037"
     Region          517..665
                     /region_name="NLRC4_HD2"
                     /note="NLRC4 helical domain HD2; pfam17776"
                     /db_xref="CDD:436035"
     Region          676..914
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Site            order(683..684,737,793,821,877,902,904)
                     /site_type="other"
                     /note="Substrate binding site [chemical binding]"
                     /db_xref="CDD:238064"
     Region          730..757
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          758..785
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          786..813
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          814..841
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          842..869
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          870..897
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..925
                     /gene="NOD1"
                     /gene_synonym="CARD4; CLR7.1; NLRC1"
                     /coded_by="XM_047419761.1:605..3382"
                     /db_xref="GeneID:10392"
                     /db_xref="HGNC:HGNC:16390"
                     /db_xref="MIM:605980"
ORIGIN      
        1 meeqghseme iipseshphi qllksnrell vthirntqcl vdnllkndyf saedaeivca
       61 cptqpdkvrk ildlvqskge evsefflyll qqladayvdl rpwlleigfs pslltqskvv
      121 vntdpvsryt qqlrhhlgrd skfvlcyaqk eellleeiym dtimelvgfs neslgslnsl
      181 aclldhttgi lneqgetifi lgdagvgksm llqrlqslwa tgrldagvkf ffhfrcrmfs
      241 cfkesdrlcl qdllfkhycy perdpeevfa fllrfphval ftfdgldelh sdldlsrvpd
      301 sscpwepahp lvllanllsg kllkgaskll tartgievpr qflrkkvllr gfspshlray
      361 arrmfperal qdrllsqlea npnlcslcsv plfcwiifrc fqhfraafeg spqlpdctmt
      421 ltdvfllvte vhlnrmqpss lvqrntrspv etlhagrdtl cslgqvahrg mekslfvftq
      481 eevqasglqe rdmqlgflra lpelgpggdq qsyeffhltl qafftafflv lddrvgtqel
      541 lrffqewmpp agaattscyp pflpfqclqg sgparedlfk nkdhfqftnl flcgllskak
      601 qkllrhlvpa aalrrkrkal wahlfsslrg ylkslprvqv esfnqvqamp tfiwmlrciy
      661 etqsqkvgql aargicanyl kltycnacsa dcsalsfvlh hfpkrlaldl dnnnlndygv
      721 relqpcfsrl tvlrlsvnqi tdggvkvlse eltkykivty lglynnqitd vgaryvtkil
      781 deckglthlk lgknkitseg gkylalavkn sksisevgla sngisteggk slaralqqnt
      841 sleilwltqn elndevaesl aemlkvnqtl khlwliqnqi takgtaqlad alqsntgite
      901 iclngnlikp eeakvyedek riicf
//
LOCUS       XP_024302472            1170 aa            linear   PRI 20-MAR-2023
DEFINITION  ubinuclein-2 isoform X6 [Homo sapiens].
ACCESSION   XP_024302472
VERSION     XP_024302472.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024446704.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1170
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1170
                     /product="ubinuclein-2 isoform X6"
                     /calculated_mol_wt=125488
     Region          17..68
                     /region_name="HUN"
                     /note="HPC2 and ubinuclein domain; pfam08729"
                     /db_xref="CDD:400875"
     Region          271..485
                     /region_name="UBN_AB"
                     /note="Ubinuclein conserved middle domain; pfam14075"
                     /db_xref="CDD:433696"
     CDS             1..1170
                     /gene="UBN2"
                     /coded_by="XM_024446704.2:101..3613"
                     /db_xref="GeneID:254048"
                     /db_xref="HGNC:HGNC:21931"
                     /db_xref="MIM:613841"
ORIGIN      
        1 mlakkfemky ggkprkhrkd rlqdlidigf gydetdpfid nseaydelvp aslttkyggf
       61 yintgtlqfr qasdteeddi tdnqkhkppk vpkikeddie mkkrkrkeeg ekekkprkkv
      121 pkqlgvvaln shksekkkkr ykdslslaam irkfqkekda lkkesnpkvp vtlstpslnk
      181 ppcaaaalgn dvpdlnlssg dpdlpifvst nehelfqeae nalemlddfd fdrlldaasd
      241 gsplsesgge ngtttqptyt sqvmpkvvpt lpeglpvlle kriedlrvaa klfdeegrkk
      301 fftqdmnnil ldielqlqel gpvirsgvys hleafvpcnk etlvkrlkkl hlnvqddrlr
      361 eplqklklav snvmpeqlfk yqedcqarsq akcaklqtde erekngseed ddekpgkrvi
      421 gprkkfhwdd tirtllcnlv eiklgcyele pnksqsaedy lksfmetevk plwpkgwmqa
      481 rmlfkesrsv hnhltsapak kkvipapkpk vkevmvktlp lhsfptmlke cspkkdqktp
      541 tslvasvsgp ptssstaaia aassssapaq eticlddsld edlsfhspsl dlvsealavi
      601 nngnkgppvg srismpttkp rpglreekla simsklplat pkkldstqtt hsssliaght
      661 gpvpkkpqdl ahtgissgli agssiqnpkv sleplparll qqglqrssqi htssssqthv
      721 ssssqaqiaa sshalgtsea qdassltqvt kvhqhsavqq nyvsplqati sksqtnpvvk
      781 lsnnpqlscs ssliktsdkp lmyrlplstp spgngsqgsh plvsrtvpst ttssnylaka
      841 mvsqistqgf kspfsmaasp klaaspkpat spkplpspkp saspkpslsa kpsvstklis
      901 ksnptpkptv spsssspnal vaqgshsstn spvhkqpsgm nisrqsptln llpssrtsgl
      961 pptknlqaps kltnssstgt vgknslsgia mnvpasrgsn lnssganrts lsggtgsgtq
     1021 gatkplstph rpstasgssv vtasvqstag asllanaspl tlmtsplsvt nqnvtpfgml
     1081 gglvpvtmpf qfpleifgfg tdtagvttts gstsaafhhs ltqnllkglq pggaqhaatl
     1141 shsplpahlq qafhdggqsk gdtklprksq
//
LOCUS       XP_016867933             363 aa            linear   PRI 20-MAR-2023
DEFINITION  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
            isoform X1 [Homo sapiens].
ACCESSION   XP_016867933
VERSION     XP_016867933.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017012444.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..363
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..363
                     /product="glycoprotein-N-acetylgalactosamine
                     3-beta-galactosyltransferase 1 isoform X1"
                     /calculated_mol_wt=42072
     Region          107..>221
                     /region_name="Galactosyl_T"
                     /note="Galactosyltransferase; cl21608"
                     /db_xref="CDD:451331"
     CDS             1..363
                     /gene="C1GALT1"
                     /gene_synonym="C1GALT; T-synthase"
                     /coded_by="XM_017012444.2:620..1711"
                     /db_xref="GeneID:56913"
                     /db_xref="HGNC:HGNC:24337"
                     /db_xref="MIM:610555"
ORIGIN      
        1 maskswlnfl tflcgsaigf llcsqlfsil lgekvdtqpn vlhndpharh sddngqnhle
       61 gqmnfnadss qhkdentdia enlyqkvril cwvmtgpqnl ekkakhvkat waqrcnkvlf
      121 msseenkdfp avglktkegr dqlywktika fqyvhehyle dadwflkadd dtyvildnlr
      181 wllskydpee piyfgrrfkp yvkqgymsgg agyvlskeal krfvdafktd kcthsssied
      241 lalgrcmeim nveagdsrdt igketfhpfv pehhlikgyl prtfwywnyn yyppvegpgc
      301 csdlavsfhy vdsttmyele ylvyhlrpyg ylyryqptlp erilkeisqa nknedtkvkl
      361 gnp
//
LOCUS       XP_047277344             384 aa            linear   PRI 20-MAR-2023
DEFINITION  heparan-alpha-glucosaminide N-acetyltransferase isoform X4 [Homo
            sapiens].
ACCESSION   XP_047277344
VERSION     XP_047277344.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421388.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..384
                     /product="heparan-alpha-glucosaminide N-acetyltransferase
                     isoform X4"
                     /calculated_mol_wt=42941
     Region          2..384
                     /region_name="COG4299"
                     /note="Predicted acyltransferase [General function
                     prediction only]"
                     /db_xref="CDD:226749"
     CDS             1..384
                     /gene="HGSNAT"
                     /gene_synonym="HGNAT; MPS3C; RP73; TMEM76"
                     /coded_by="XM_047421388.1:85..1239"
                     /db_xref="GeneID:138050"
                     /db_xref="HGNC:HGNC:26527"
                     /db_xref="MIM:610453"
ORIGIN      
        1 mgssiflsmt silqrgcskf rllgkiawrs fllicigiii vnpnyclgpl swdkvripgv
       61 lqrlgvtyfv vavlellfak pvpehcaser sclslrdits swpqwllilv leglwlgltf
      121 llpvpgcptg ylgpggigdf gkypnctgga agyidrlllg ddhlyqhpss avlyhtevay
      181 dpegilgtin sivmaflgvq ccpdwvtkqa clteplsplw rilfgpclev ratepaqagk
      241 illyykartk dilirftawc cilglisval tkvsenegfi pvnknlwsls yvttlssfaf
      301 fillvlypvv dvkglwtgtp ffypgmnsil vyvghevfen yfpfqwklkd nqshkehltq
      361 nivatalwvl iayilyrkki fwki
//
LOCUS       XP_047279359             141 aa            linear   PRI 20-MAR-2023
DEFINITION  probable gluconokinase isoform X3 [Homo sapiens].
ACCESSION   XP_047279359
VERSION     XP_047279359.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423403.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..141
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..141
                     /product="probable gluconokinase isoform X3"
                     /calculated_mol_wt=15568
     Region          <1..139
                     /region_name="GntK"
                     /note="Gluconate kinase [Carbohydrate transport and
                     metabolism]; COG3265"
                     /db_xref="CDD:225804"
     CDS             1..141
                     /gene="IDNK"
                     /gene_synonym="bA522I20.2; C9orf103; hGntK"
                     /coded_by="XM_047423403.1:3113..3538"
                     /db_xref="GeneID:414328"
                     /db_xref="HGNC:HGNC:31367"
                     /db_xref="MIM:611343"
ORIGIN      
        1 mgkgiplndq dripwlcnlh dillrdvasg qrvvlacsal kktyrdiltq gkdgvalkce
       61 esgkeakqae mqllvvhlsg sfevisgrll kreghfmppe llqsqfetle ppaapenfiq
      121 isvdknvsei iatimetlkm k
//
LOCUS       XP_054184471             275 aa            linear   PRI 20-MAR-2023
DEFINITION  HLA class II histocompatibility antigen, DQ beta 2 chain isoform X1
            [Homo sapiens].
ACCESSION   XP_054184471
VERSION     XP_054184471.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328496.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167244.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..275
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..275
                     /product="HLA class II histocompatibility antigen, DQ beta
                     2 chain isoform X1"
                     /calculated_mol_wt=30817
     CDS             1..275
                     /gene="HLA-DQB2"
                     /gene_synonym="DQB2; HLA-DQB1; HLA-DXB"
                     /coded_by="XM_054328496.1:63..890"
                     /db_xref="GeneID:3120"
                     /db_xref="HGNC:HGNC:4945"
                     /db_xref="MIM:615161"
ORIGIN      
        1 malqipggfw aaavtvmlvm lstpvaeard fpkdflvqfk gmcyftngte rvrgvaryiy
       61 nreeygrfds dvgefqavte lgrsiedwnn ykdfleqera avdkvcrhny eaelrttlqr
      121 qveptvtisp srtealnhhn llvcsvtdfy paqikvrwfr ndqeetagvv stslirngdw
      181 tfqilvmlei tpqrgdiytc qvehpslqsp itvewraqse saqskmlsgi ggfvlglifl
      241 glgliirhrg qkgprgpppa gnisamiqsg eraqa
//
LOCUS       XP_054185667             756 aa            linear   PRI 20-MAR-2023
DEFINITION  CCR4-NOT transcription complex subunit 3 isoform X4 [Homo sapiens].
ACCESSION   XP_054185667
VERSION     XP_054185667.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329692.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571054.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..756
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..756
                     /product="CCR4-NOT transcription complex subunit 3 isoform
                     X4"
                     /calculated_mol_wt=81268
     CDS             1..756
                     /gene="CNOT3"
                     /gene_synonym="IDDSADF; LENG2; NOT3; NOT3H"
                     /coded_by="XM_054329692.1:286..2556"
                     /db_xref="GeneID:4849"
                     /db_xref="HGNC:HGNC:7879"
                     /db_xref="MIM:604910"
ORIGIN      
        1 madkrklqge idrclkkvse gveqfediwq klhnaananq kekyeadlkk eikklqrlrd
       61 qiktwvasne ikdkrqlidn rklietqmer fkvveretkt kayskeglgl aqkvdpaqke
      121 keevgqwltn tidtlnmqvd qfesevesls vqtrkkkgdk dkqdrieglk rhiekhryhv
      181 rmletilrml dndsilvdai rkikddveyy vdssqdpdfe eneflyddld ledipqalva
      241 tsppshshme deifnqssst ptsttssspi ppspanctte nseddkkrgr stdsevsqsp
      301 akngskpvhs nqhpqspavp ptypsgpppa asalsttpgn ngvpapaapp salgpkaspa
      361 pshnsgtpap yaqavappap sgpsttqprp psvqpsgggg ggsggggsss ssnssaggga
      421 gkqngatsys svvadspaev alsssggnna ssqalgppsg phnpppstsk epsaaaptga
      481 ggvapgsgnn sggpsllvpl pvnppssptp sfsdakaaga llngppqfst apeikapepl
      541 sslksmaera aissgiedpv ptlhlterdi ilsstsappa saqpplqlse vniplslgvc
      601 plgpvpltke qlyqqameea awhhmphpsd serirqylpr npcptppyhh qmppphsdtv
      661 efyqrlstet lffifyyleg tkaqylaaka lkkqswrfht kymmwfqrhe epktitdefe
      721 qlaqslsltk ysslwlsaqp gtppshpplg qllgll
//
LOCUS       XP_054190864             541 aa            linear   PRI 20-MAR-2023
DEFINITION  FYN-binding protein 2 isoform X9 [Homo sapiens].
ACCESSION   XP_054190864
VERSION     XP_054190864.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334889.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..541
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..541
                     /product="FYN-binding protein 2 isoform X9"
                     /calculated_mol_wt=59465
     CDS             1..541
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
                     /coded_by="XM_054334889.1:115..1740"
                     /db_xref="GeneID:199920"
                     /db_xref="HGNC:HGNC:27295"
                     /db_xref="MIM:618478"
ORIGIN      
        1 megegvrnfk elrakfqnld applpgpikf pagvspkgdi ggtqstqila ngkplssnhk
       61 qrtpycssse sqplqpqkik laqkseipkc snspgplgks tvcsatssqk aslllevtqs
      121 nveiitkekv mvansfrnkl wnwekvssqk semssallla nygskaihle gqkgmgltpe
      181 eprkkletkg aqtlpsqkhv vapkilhnvs edpsfvisqh irkswenppp erspasspcq
      241 piyecelasq apekqpdvrh hhlpktkplp sidslgpppp kpsrppivnl qafqrqpaav
      301 pktqgevtve egslsperlf naefeephny eatisylrhs gnsinlctak eiadrhsekt
      361 avyepgicch fdlgtsslqn styevgieel qkpgknfpyp epsakhedkk mkekqpcelk
      421 pkntekepys nhvfkvdace gtpekiqmtn vhtgrrnmla gkqeamidii qtnpcpegpk
      481 larhsqghcg hlevlestke tpdlgvskts siseeiyddv eysrkevpkl nyssslasss
      541 v
//
LOCUS       XP_054221303             738 aa            linear   PRI 20-MAR-2023
DEFINITION  la-related protein 4B isoform X5 [Homo sapiens].
ACCESSION   XP_054221303
VERSION     XP_054221303.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365328.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..738
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..738
                     /product="la-related protein 4B isoform X5"
                     /calculated_mol_wt=80393
     CDS             1..738
                     /gene="LARP4B"
                     /gene_synonym="KIAA0217; LARP5"
                     /coded_by="XM_054365328.1:121..2337"
                     /db_xref="GeneID:23185"
                     /db_xref="HGNC:HGNC:28987"
                     /db_xref="MIM:616513"
ORIGIN      
        1 mtsdqdakvv aepqtqrvqe gkdsahlmng pisqttsqts sipplsqvpa tkvselnpna
       61 evwgapvlhl eassaadgvs aaweevaghh adrgpqgsda ngdgdqghen aalpdpqesd
      121 padmnalalg pseydslpen setggnesqp dsqedprevl kktlefclsr enlasdmyli
      181 sqmdsdqyvp ittvanldhi kklstdvdli vevlrslplv qvdekgekvr pnqnrcivil
      241 reisestpve evealfkgdn lpkfincefa yndnwfitfe teadaqqayk ylreevktfq
      301 gkpikarika kaiaintflp kngfrpldvs lyaqqryats fyfppmyspq qqfplyslit
      361 pqtwsathsy ldpplvtpfp ntgfingfts pafkpaaspl tslrqypprs rnpskshlrh
      421 aipsaergpg llespsifnf tadrlingvr spqtrqagqt rtriqnpsay akreagpgrv
      481 epgslesspg lgrgrknsfg yrkkreekft ssqtqsptpp kppspsfelg lssfpplpga
      541 agnlktedlf enrlssliig pskertlsad asvntlpvav srepsvpasc avsatyersp
      601 spahlpddpk vaekqreths vdrlpsalta tacksvqvng aatelrkpsy aeicqrtske
      661 ppssplqpqk eqkpntvgcg keekklaepa eryreppalk stpgaprdqr rpaggrpsps
      721 amgkrlsreq stppkspq
//
LOCUS       XP_054227704             188 aa            linear   PRI 20-MAR-2023
DEFINITION  C-type lectin domain family 4 member E isoform X1 [Homo sapiens].
ACCESSION   XP_054227704
VERSION     XP_054227704.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371729.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..188
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..188
                     /product="C-type lectin domain family 4 member E isoform
                     X1"
                     /calculated_mol_wt=21462
     CDS             1..188
                     /gene="CLEC4E"
                     /gene_synonym="CLECSF9; MINCLE"
                     /coded_by="XM_054371729.1:113..679"
                     /db_xref="GeneID:26253"
                     /db_xref="HGNC:HGNC:14555"
                     /db_xref="MIM:609962"
ORIGIN      
        1 mnsskssetq ctvtfrifqt cdekkfqlpe nftelscyny gsgsvknccp lnweyfqssc
       61 yffstdtisw alslkncsam gahlvvinsq eeqeflsykk pkmreffigl sdqvvegqwq
      121 wvdgtpltks lsfwdvgepn niatledcat mrdssnprqn wndvtcflny fricemvgin
      181 plnkgksl
//
LOCUS       XP_054230995             795 aa            linear   PRI 20-MAR-2023
DEFINITION  intraflagellar transport protein 88 homolog isoform X8 [Homo
            sapiens].
ACCESSION   XP_054230995
VERSION     XP_054230995.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375020.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 12% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..795
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..795
                     /product="intraflagellar transport protein 88 homolog
                     isoform X8"
                     /calculated_mol_wt=90567
     CDS             1..795
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /coded_by="XM_054375020.1:409..2796"
                     /db_xref="GeneID:8100"
                     /db_xref="HGNC:HGNC:20606"
                     /db_xref="MIM:600595"
ORIGIN      
        1 mkftntkvqm mqnvhlapet deddlysgyn dynpiydiee lendaafqqa vrtshgrrpp
       61 itakisstav trpiatgygs ktslassigr pmtgaiqdgv trpmtavraa gftkaalrgs
      121 afdplsqsrg paspleakkk dspeekikql ekevnelvee scianscgdl klalekakda
      181 grkervlvrq reqvttpeni nldltysvlf nlasqysvne myaealntyq vivknkmfsn
      241 agilkmnmgn iylkqrnysk aikfyrmald qvpsvnkqmr ikimqnigvt fiqagqysda
      301 insyehimsm apnlkagynl ticyfaigdr ekmkkafqkl itvpleided kyispsddph
      361 tnlvteaikn dhlrqmerer kamaekyimt sakliapvie tsfaagydwc vevvkasqyv
      421 elandleink avtylrqkdy nqaveilkvl ekkdnrvksa aatnlsalyy mgkdfaqass
      481 yadiavnsdr ynpaaltnkg ntvfangdye kaaefykeal rndsscteal ynigltyekl
      541 nrldealdcf lklhailrns aevlyqiani yelmenpsqa iewlmqvvsv iptdpqvlsk
      601 lgelydregd ksqafqyyye syryfpcnie viewlgayyi dtqfwekaiq yferasliqp
      661 tqvkwqlmva scfrrsgnyq kaldtykdth rkfpenvecs gsvrtghmer dplnllprks
      721 vlpgpeiakc nyfsgekyyl saflssslhr swikrcsric qkteevgkne rnkgtahkvr
      781 qrwqwglpwq krrkc
//
LOCUS       XP_054232762             556 aa            linear   PRI 20-MAR-2023
DEFINITION  ribosomal protein S6 kinase-like 1 isoform X6 [Homo sapiens].
ACCESSION   XP_054232762
VERSION     XP_054232762.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376787.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..556
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..556
                     /product="ribosomal protein S6 kinase-like 1 isoform X6"
                     /calculated_mol_wt=60668
     CDS             1..556
                     /gene="RPS6KL1"
                     /gene_synonym="RSKL2"
                     /coded_by="XM_054376787.1:102..1772"
                     /db_xref="GeneID:83694"
                     /db_xref="HGNC:HGNC:20222"
ORIGIN      
        1 mslvaceclp spglepepcs qarsqahvyl eqirnrvalg vpdmtkrdyl vdaatqirla
       61 lerdvsedye aafnhyqngv dvllrgihvd pnkerreavk lkitkylrra eeifnchlqr
      121 llssgaspsa vqlvqdpatg gtfvvkslpr chmvsrerlt iiphgvpymt kllryfvsed
      181 siflhlehvq ggtlwshlls qahsrhsgls sgstqermka qlnphlnllt parlpsghap
      241 gqdrialepp rtspnlllag eapstrpqre aegeptarts tsgssdlpka pgghlhlqar
      301 ragqnsdagp prgltwvpeg agpvlggcgr gmdqsclsad gagrgcgrat wsvreeqvkq
      361 waaemlvale alheqgvlcr dlhpgnllld qaghirltyf gqwsevepqc cgeavdnlys
      421 apevggisel teacdwwsfg sllyelltgm alsqshpsgi qahtqlqlpe wlsrpaasll
      481 tellqfeptr rlgmgeggvs klkshpffst iqwsklvgal vllsgthfpp vtdlhrgmas
      541 lqelsrqglw krqgcv
//
LOCUS       XP_054232878             529 aa            linear   PRI 20-MAR-2023
DEFINITION  AP-1 complex subunit gamma-like 2 isoform X14 [Homo sapiens].
ACCESSION   XP_054232878
VERSION     XP_054232878.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376903.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 13% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..529
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..529
                     /product="AP-1 complex subunit gamma-like 2 isoform X14"
                     /calculated_mol_wt=58615
     CDS             1..529
                     /gene="AP1G2"
                     /gene_synonym="G2AD"
                     /coded_by="XM_054376903.1:259..1848"
                     /db_xref="GeneID:8906"
                     /db_xref="HGNC:HGNC:556"
                     /db_xref="MIM:603534"
ORIGIN      
        1 mlnrkgrrwg adacvvgfsg ggvgaefgdp lrermvvpsl klqdlieeir gaktqaqere
       61 viqkecahir asfrdgdpvh rhrqlaklly vhmlgypahf gqmeclklia ssrftdkrvg
      121 ylgamlllde rhdahllitn sikndlsqgi qpvqglalct lstmgsaemc rdlapevekl
      181 llqpspyvrk kailtavhmi rkvpelssvf lppcaqllhe rhhgillgti tlitelcers
      241 paalrhfrkv vpqlvhilrt lvtmgysteh sisgvsdpfl qvqilrllri lgrnheesse
      301 tmndllaqva tntdtsrnag navlfetvlt imdirsaagl rvlavnilgr fllnsdrnir
      361 yvaltsllrl vqsdhsavqr hrptvveclr etdaslsrra lelslalvns snvrammqel
      421 qaflescppd lradcasgil laaerfaptk rwhidtilhv lttagthvrd davanltqli
      481 ggaqelhays vrrlynalae disqvtaayt vqktsehral flrtsglls
//
LOCUS       XP_054233963            2619 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-IXa isoform X5 [Homo sapiens].
ACCESSION   XP_054233963
VERSION     XP_054233963.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377988.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2619
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2619
                     /product="unconventional myosin-IXa isoform X5"
                     /calculated_mol_wt=300205
     CDS             1..2619
                     /gene="MYO9A"
                     /gene_synonym="CMS24"
                     /coded_by="XM_054377988.1:362..8221"
                     /db_xref="GeneID:4649"
                     /db_xref="HGNC:HGNC:7608"
                     /db_xref="MIM:604875"
ORIGIN      
        1 mnindggrrr fednehtlri ypgaisegti ycpiparkns taaeviesli nklhldktkc
       61 yvlaevkefg geewilnptd cpvqrmmlwp rmalenrlsg edyrfllrek nldgsihygs
      121 lqswlrvtee rrrmmergfl pqpqqkdfdd lcslpdlnek tllenlrnrf khekiytyvg
      181 silivinpfk flpiynpkyv kmydnhqlgk lephiyavad vayhamlqrk knqcivisge
      241 sgsgktqstn flihhltals qkgfasgveq iilgagpvle afgnaktahn nnssrfgkfi
      301 qvnyqetgtv lgayvekyll eksrlvyqeh nernyhvfyy llagaseder safhlkqpee
      361 yhylnqdcft vegedlrhdf erlqlamemv gflpktrrqi fsllsailhl gnicykkkty
      421 rddsidicnp evlpivsell evkeemlfea lvtrktvtvg eklilpykla eavtvrnsma
      481 kslysalfdw ivfrinhall nskdlehntk tlsigvldif gfedyennsf eqfcinfane
      541 rlqhyfnqhi fkleqeeyrt egiswhnidy idntccinli skkptgllhl ldeesnfpqa
      601 tnqtlldkfk hqhednsyie fpavmepafi ikhyagkvky gvkdfreknt dhmrpdival
      661 lrssknafis gmigidpvav frwailraff ramvafreag krnihrktgh ddtapcailk
      721 smdsfsflqh pvhqrsleil qrckeekysi trknprtpls dlqgmnalne knqhdtfdia
      781 wngrtgirqs rlssgtslld kdgifansts skllerahgi ltrnknfksk palpkhllev
      841 nslkhltrlt lqdritksll hlhkkkkpps isaqfqasls klmetlgqae pyfvkcirsn
      901 aeklplrfsd vlvlrqlryt gmletvrirq sgysskysfq dfvshfhvll prniipskfn
      961 iqdffrkinl npdnyqvgkt mvflkeqerq hlqdllhqev lrriillqrw frvllcrqhf
     1021 lhlrqasvii qrfwrnylnq kqvrdaavqk dafvmasaaa llqaswrahl erqrylelra
     1081 aaiviqqkwr dyyrrrhmaa iciqarwkay reskryqeqr kkiillqstc rgfrarqrfk
     1141 alkeqrlret kpevglvnik gygsleiqgs dpsewedcsf dnrikaieec ksviesnris
     1201 ressvdclke spnkqqeraq sqsgvdlqed vlvrerprsl edlhqkkvgr akresrrmre
     1261 leqaifslel lkvrslggis psedrrwste lvpeglqspr gtpdsessqg slellsyees
     1321 qksklesvis degdlqfpsp kissspkfds rdnalsasne tssaehlkdg tmkemvvcss
     1381 esitckpqlk dsfisnslpt ffyipqqdpl ktnsqldtsi qrnkllened tagealtldi
     1441 nretrryhcs gkdqivpsln tessnpvlkk leklntekee rqkqlqqqne kemmeqirqq
     1501 tdilekerka fktiekprig eclvapssyq skqrverpss llslntsnkg elnvlgslsl
     1561 kdaalaqkds ssahlppkdr pvtvfferkg spcqsstvke lsktdrmgtq lnvacklsnn
     1621 riskrehfrp tqsyshnsdd lsregnarpi fftpkdnmsi plvskealns knpqlhkede
     1681 pawkpvklag pgqreqvarp ahkkkarmar trsdfltrgt fadgegdtee ddyddiiepl
     1741 lsldqashce lgpapslgqa shsdsemtsq rfssvdeqak lhktmsqgei tklavrqkas
     1801 dsdirpqrak mrfwakgkqg ekkttrvkpt tqsevsplfa gtdvipahqf pdelaayhpt
     1861 pplspelpgs crkefkenke pspkakrkrs vkisnvalds mhwqndsvqi iasvsdlksm
     1921 defllkkvnd ldnedskkdt lvdvvfkkal kefrqnifsf yssalamddg ksirykdlya
     1981 lfeqilektm rleqrdslge spvrvwvntf kvfldeymne fktsdctatk vpkterkkrr
     2041 kketdlveeh nghifkatqy siptyceycs sliwimdras vcklckyach kkcclkttak
     2101 cskkydpels srqfgvelsr ltsedrtvpl vveklinyie mhglytegiy rksgstnkik
     2161 elrqgldtda esvnlddyni hviasvfkqw lrdlpnplmt felyeeflra mglqerketi
     2221 rgvysvidql srthlntler lifhlvrial qedtnrmsan alaivfapci lrcpdttdpl
     2281 qsvqdisktt tcvelivveq mnkykarlkd isslefaenk aktrlslirr smkpvliavr
     2341 fmnitrnsvs gkgrirrgny pgpsspvvvr lpsvsdvsee tltseaamet diteqqqaam
     2401 qqeervlteq ienlqkekee ltfemlvlep rasddetles easigtadss enlnmeseya
     2461 iseksersla lsslktagks epssklrkql kkqqdsldvv dssvsslcls ntasshgtrk
     2521 lfqiyskspf yraasgneal gmegplgqtk fledkpqfis rgtfnpekgk qklknvknsp
     2581 qktketpegt vmsgrrktvd pdctsnqqla lfgnnefmv
//
LOCUS       XP_054234987            1303 aa            linear   PRI 20-MAR-2023
DEFINITION  cingulin-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054234987
VERSION     XP_054234987.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379012.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1303
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1303
                     /product="cingulin-like protein 1 isoform X1"
                     /calculated_mol_wt=149018
     CDS             1..1303
                     /gene="CGNL1"
                     /gene_synonym="JACOP; PCING"
                     /coded_by="XM_054379012.1:79..3990"
                     /db_xref="GeneID:84952"
                     /db_xref="HGNC:HGNC:25931"
                     /db_xref="MIM:607856"
ORIGIN      
        1 melyfgeyqh vqqeygvhlr lasddtqksr ssqnskagsy gvsirvqgid ghpyivlnnt
       61 erclagtsfs engppfpppv innlplhssn gsvpkensee lqlpenpyaq pspirnlkqp
      121 llhegkngvl drkdgsvkps hllnfqrhpe llqpydpekn elnlqnhqps esnwlktlte
      181 eginnkkpwt cfpkpsnsqp tspsledpak sgvtairlcs svviedpkkq tsvcvnvqsc
      241 tkervgeeal ftsgrpltah sphahpetkk trpdvlpfrr qdsagpvldg arsrrsssss
      301 ttptsansly rfllddqeca ihadnvnrhe nrryipflpg tgrdidtgsi pgvdqliekf
      361 dqkpglqrrg rsgkrnrinp ddrkrsrsvd safpfglqgn seyliefsrn lgkssehllr
      421 psqvcpqrpl sqerrgkqsv grtfaklqga ahgascahsr ppqpnidgkv letegsqest
      481 virapslgaq skkeeevkta tatlmlqnra tatspdsgak kisvktfpsa sntqatpdll
      541 kgqqeltqqt neetakqily nylkegstdn ddatkrkvnl vfekiqtlks raagsaqgnn
      601 qacnstsevk dlleqksklt ievaelqrql qlevknqqni keerermran leelrsqhne
      661 kveenstlqq rleesegelr knleelfqvk mereqhqtei rdlqdqlsem hdeldsakrs
      721 edrekgalie ellqakqdlq dlliakeeqe dllrkrerel talkgalkee vsshdqemdk
      781 lkeqydaelq alresveeat knvevlasrs ntseqdqagt emrvkllqee neklqgrsee
      841 lerrvaqlqr qiedlkgdea kaketlkkye geirqleeal vharkeekea vsarralene
      901 leaaqgnlsq ttqeqkqlse klkeeseqke qlrrlkneme nerwhlgkti eklqkemadi
      961 veasrtstle lqnqldeyke knrrelaemq rqlkektlea eksrltamkm qdemrlmeee
     1021 lrdyqraqde altkrqlleq tlkdleyele akshlkddrs rlvkqmedkv sqlemeleee
     1081 rnnsdllser isrsreqmeq vrnellqera arqdlecdki slerqnkdlk sriihlegsy
     1141 rsskeglvvq meariaeled rleseerdra nlqlsnrrle rkvkelvmqv ddehlsltdq
     1201 kdqlslrlka mkrqveeaee eidrlesskk klqreleeqm dmnehlqgql nsmkkdlsrl
     1261 kklpskvldd mdddddlstd ggslyeapvs ytfskdstva sqi
//
LOCUS       XP_054172035            1024 aa            linear   PRI 20-MAR-2023
DEFINITION  LLGL scribble cell polarity complex component 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054172035
VERSION     XP_054172035.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316060.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1024
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1024
                     /product="LLGL scribble cell polarity complex component 2
                     isoform X1"
                     /calculated_mol_wt=113755
     CDS             1..1024
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /coded_by="XM_054316060.1:836..3910"
                     /db_xref="GeneID:3993"
                     /db_xref="HGNC:HGNC:6629"
                     /db_xref="MIM:618483"
ORIGIN      
        1 mrrflrpghd pvrerlkrdl fqfnktvehg fphqpsalgy spslrilaig trsgaiklyg
       61 apgvefmglh qennavtqih llpgqcqlvt llddnslhlw slkvkggase lqedesftlr
      121 gppgaapsat qitvvlphss cellylgtes gnvfvvqlpa fraledrtis sdavlqrlpe
      181 earhrrvfem vealqehprd pnqiligysr glvviwdlqg srvlyhflss qqleniwwqr
      241 dgrllvschs dgsycqwpvs seaqqpeplr slvpygpfpc kaitrilwlt trqglpftif
      301 qggmprasyg drhcisvihd gqqtafdfts rvigftvlte adpaatfddp yalvvlaeee
      361 lvvidlqtag wppvqlpyla slhcsaitcs hhvsniplkl weriiaagsr qnahfstmew
      421 pidggtsltp appqrdlllt ghedgtvrfw dasgvclrll yklstvrvfl tdtdpnenls
      481 aqgedewppl rkvgsfdpys ddprlgiqki flckysgyla vagtagqvlv lelndeaaeq
      541 aveqveadll qdqegyrwkg herlaarsgp vrfepgfqpf vlvqcqppav vtslalhsew
      601 rlvafgtshg fglfdhqqrr qvfvkctlhp sdqlalegpl srvkslkksl rqsfrrmrrs
      661 rvssrkrhpa gppgevrpea qegsakaerp glqnmelapv qrkiearsae dsftgfvrtl
      721 yfadtylkds srhcpslwag tnggtiyafs lrvppaerrm desvraeqak eiqlmhrapv
      781 vgilvldghs vplpepleva hdlskspdmq gshqllvvse eqfkvftlpk vsaklklklt
      841 alegsrvrrv svahfgsrra edygehhlav ltnlgdiqvv slpllkpqvr yscirredvs
      901 giascvftky gqgfylisps eferfslstk wlveprclvd saetknhrpg ngagpkkaps
      961 rarnsgtqsd geekqpglvm erallsderv lkeiqstleg drgsgnwrsh raavgcslsn
     1021 ggae
//
LOCUS       XP_054178101             495 aa            linear   PRI 20-MAR-2023
DEFINITION  ribitol 5-phosphate transferase FKRP isoform X1 [Homo sapiens].
ACCESSION   XP_054178101
VERSION     XP_054178101.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322126.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..495
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..495
                     /product="ribitol 5-phosphate transferase FKRP isoform X1"
                     /calculated_mol_wt=54437
     CDS             1..495
                     /gene="FKRP"
                     /gene_synonym="FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5;
                     MDDGB5; MDDGC5"
                     /coded_by="XM_054322126.1:715..2202"
                     /db_xref="GeneID:79147"
                     /db_xref="HGNC:HGNC:17997"
                     /db_xref="MIM:606596"
ORIGIN      
        1 mrltrcqaal aaaitlnllv lfyvswlqhq prnsrargpr rasaagprvt vlvrefeafd
       61 navpelvdsf lqqdpaqpvv vaadtlpypp lalpripnvr lallqpaldr paaasrpety
      121 vatefvalvp dgaraeapgl lermvealra gsarlvaapv atanparcla lnvslrewta
      181 rygaapaapr cdaldgdavv llrardlfnl saplarpvgt slflqtalrg wavqlldltf
      241 aaarqpplat aharwkaere grarraallr algirlvswe ggrlewfgcn kettrcfgtv
      301 vgdtpaylye erwtppcclr alretaryvv gvleaagvry wleggsllga arhgdiipwd
      361 ydvdlgiyle dvgnceqlrg aeagsvvder gfvwekaveg dffrvqyses nhlhvdlwpf
      421 yprngvmtkd twldhrqdve fpehflqplv plpfagfvaq apnnyrrfle lkfgpgvien
      481 pqypnpalls ltgsg
//
LOCUS       XP_054198721            2441 aa            linear   PRI 20-MAR-2023
DEFINITION  telomere-associated protein RIF1 isoform X3 [Homo sapiens].
ACCESSION   XP_054198721
VERSION     XP_054198721.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342746.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2441
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2441
                     /product="telomere-associated protein RIF1 isoform X3"
                     /calculated_mol_wt=270714
     CDS             1..2441
                     /gene="RIF1"
                     /coded_by="XM_054342746.1:49..7374"
                     /db_xref="GeneID:55183"
                     /db_xref="HGNC:HGNC:23207"
                     /db_xref="MIM:608952"
ORIGIN      
        1 mtargqspla plletledps ashggqtday ltltsrmtge egkeviteie kklprlykvl
       61 kthissqnse lssaalqalg fclynpkits elseanalel lsklndtikn sdknvrtral
      121 wviskqtfps evvgkmvssi idsleilfnk gethsavvdf ealnvivrli eqapiqmgee
      181 avrwaklvip lvvhsaqkvh lrgatalemg mplllqkqqe iasiteqlmt ttlhrsgsfi
      241 nsllqleelg frsgapmikk iafiawksli dnfalnpdil csakrlkllm qplssihvrt
      301 etlaltklev wwyllmrlgp hlpanfeqvc vpliqstisi dsnaspqgns chvatspgln
      361 pmtpvhkgas spygapgtpr mnlssnlggm atipsiqllg lemllhfllg pealsfakqn
      421 klvlsleple hplisspsff skhantlita vhdsfvavgk dapdvvvsai wkelislvks
      481 vtesgnkkek pgsevltlll kslesivkse vfpvsktlvl meitikglpq kvlgspayqv
      541 anmdilngtp alfliqlifn nflecgvsde rfflsleslv gcvlsgptsp lafsdsvlnv
      601 inqnakqlen kehlwkmwsv ivtpltelin qtnevnqgda lehnfsaiyg altlpvnhif
      661 seqrfpvatm ktllrtwsel yrafarcaal vataeenlcc eelsskimss ledegfsnll
      721 fvdriiyiit vmvdcidfsp ynikyqpkvk spqrpsdwsk kkneplgklt slfklivkvi
      781 ysfhtlsfke ahsdtlftig nsitsiissv lghislpsmi rkifatltrp lalfyenskl
      841 devpkvyscl nnklekllge iiaclqfsyt gtydselleq lspllciifl hknkqirkqs
      901 aqfwnatfak vmmlvypeel kpvltqakqk fllllpglet vemmeessgp ysdgtensql
      961 nvkisgmerk sngkrdsfla qtknkkenmk paaklkless slkvkgeill eeekstdfvf
     1021 ippegkdake riltdhqkev lktkrcdipa mynnldvsqd tlftqysqee pmeiptltrk
     1081 pkedskmmit eeqmdsdivi pqdvtedcgm aehlekssls nnecgsldkt spemsnsnnd
     1141 erkkalissr ktstecasst ensfvvssss vsnttvagtp pyptsrrqtf itlekfdgse
     1201 nrpfspspln nisstvtvkn nqetmiktdf lpkakqregt fsksdsekiv ngtkrssrra
     1261 gkaeqtgnkr skplmrsepe knteesvegi vvlennppgl lnqtecvsdn qvhlsestme
     1321 hdntklkaat menavlletn tveeknvein leskentppv visadqmvne dsqvqitpnq
     1381 ktlrrssrrr sevvesttes qdkenshqkk errkeeekpl qksplhikdd vlpkqkliae
     1441 qtlqenliek gsnlhektlg etsanaeteq nkkkadpeni ksegdgtqdi vdksseklvr
     1501 grtryqtrra sqgllssien sesdsseake egsrkkrsgk wknksnesvd iqdqeekvvk
     1561 qecikaenqs hdykatseed vsikspicek qdesntvicq dstvtsdllq vpddlpnvce
     1621 eknetskyae ysftslpvpe snlrtrnaik rlhkrdsfdn cslgesskig isdisslsek
     1681 tfqtlecqhk rsrrvrrskg cdccgeksqp qeksliglkn tenndveise tkkadvqapv
     1741 spsetsqanp ysegqfldeh hsvnfhlglk edndtindsl ivsetksken tmqeslpsgi
     1801 vnfreeicdm dsseamsles qespnenfkt vgpclgdskn vsqesletke ekpeetpkme
     1861 lslenvtveg nackvtesnl ekaktmelnv gneasfhgqe rtktgiseea aieenkrndd
     1921 seadtaklna kevateefns dislsdnttp vklnaqteis eqtaageldg gndvsdlhss
     1981 eetntkmkny eemmigeama etghdgeten egittktskp deaetnmlta emdnfvcdtv
     2041 emsteegiid anktetntey skseekldnn qmvmesdilq edhhtsqkve epsqclasgt
     2101 aiseliiedn naspqklrel dpslvsands psgmqtrcvw splaspstsi lkrglkrsqe
     2161 deisspvnkv rrvsfadpiy qagladdidr rcsivrshss nsspigksvk tspttqskhn
     2221 ttsakgflsp gsrspkfkss kkclisemak esipcptesv ypplvncvap vdiilpqits
     2281 nmwarglgql irakniktig dlstltasei ktlpirspkv snvkkalriy heqqvktrgl
     2341 eeipvfdise ktvngienks lspdeerlvs diidpvalei plsknlvaqi salalqldse
     2401 dlhnysgsql femheklscm ansviknlqs rwrspshens i
//
LOCUS       XP_054178955             469 aa            linear   PRI 20-MAR-2023
DEFINITION  BPI fold-containing family B member 6 isoform X1 [Homo sapiens].
ACCESSION   XP_054178955
VERSION     XP_054178955.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322980.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..469
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..469
                     /product="BPI fold-containing family B member 6 isoform
                     X1"
                     /calculated_mol_wt=51134
     CDS             1..469
                     /gene="BPIFB6"
                     /gene_synonym="BPIL3; LPLUNC6"
                     /coded_by="XM_054322980.1:1..1410"
                     /db_xref="GeneID:128859"
                     /db_xref="HGNC:HGNC:16504"
                     /db_xref="MIM:614110"
ORIGIN      
        1 mlrilclalc slltgtradp gallrlgmdi mnrgelvgpg vrlgggawev qsamdeshil
       61 ekmaaeagkk qpgmkpikgi tnlkvkdvql pvitlnfvpg vgifqcvstg mtitgksfmg
      121 gnmeiivaln itatnrllrd eetglpvfks egcevilvnv ktnlpsnmlp kmvnkfldst
      181 lhkvlpglmc paidavlvyv nrkwtnlsdp mpvgqmgtvk yvlmsapatt asyiqldfsp
      241 vvqqqkgkti kladagealt fpegyakgss qlllpatfls aelallqksf hvniqdtmig
      301 elppqttktl arfipevava ypkskplttq ikikkppkvt mktgksllhl hstlemfaar
      361 wrgkapmslf llevhfnlkv qysvhenqlq matsldrlls lsrksssign fnereltgfi
      421 tsyleeayip vvndvlqvgl plpdflamny nlaeldiven almldlklg
//
LOCUS       XP_054181018             545 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase Chk2 isoform X7 [Homo sapiens].
ACCESSION   XP_054181018
VERSION     XP_054181018.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325043.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..545
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..545
                     /product="serine/threonine-protein kinase Chk2 isoform X7"
                     /calculated_mol_wt=60560
     CDS             1..545
                     /gene="CHEK2"
                     /gene_synonym="CDS1; CHK2; hCds1; HuCds1; LFS2; PP1425;
                     RAD53"
                     /coded_by="XM_054325043.1:73..1710"
                     /db_xref="GeneID:11200"
                     /db_xref="HGNC:HGNC:16627"
                     /db_xref="MIM:604373"
ORIGIN      
        1 msresdveaq qshgssacsq phgsvtqsqg sssqsqgiss sststmpnss qsshsssgtl
       61 ssletvstqe lysipedqep edqepeeptp apwarlwalq dgfanletes ghvtqsdlel
      121 llssdppasa sqsagirecv ndnywfgrdk sceycfdepl lkrtdkyrty skkhfrifre
      181 vgpknsyiay iedhsgngtf vntelvgkgk rrplnnnsei alslsrnkvf vffdltvddq
      241 svypkalrde yimsktlgsg acgevklafe rktckkvaik iiskrkfaig sareadpaln
      301 veteieilkk lnhpciikik nffdaedyyi vlelmeggel fdkvvgnkrl keatcklyfy
      361 qmllavqitd fghskilget slmrtlcgtp tylapevlvs vgtagynrav dcwslgvilf
      421 iclsgyppfs ehrtqvslkd qitsgkynfi pevwaevsek aldlvkkllv vdpkarftte
      481 ealrhpwlqd edmkrkfqdl lseenestal pqvlaqpsts rkrpregeae gaettkrpav
      541 caavl
//
LOCUS       XP_054181234             597 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein EWS isoform X32 [Homo sapiens].
ACCESSION   XP_054181234
VERSION     XP_054181234.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325259.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..597
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..597
                     /product="RNA-binding protein EWS isoform X32"
                     /calculated_mol_wt=62093
     CDS             1..597
                     /gene="EWSR1"
                     /gene_synonym="bK984G1.4; EWS; EWS-FLI1"
                     /coded_by="XM_054325259.1:70..1863"
                     /db_xref="GeneID:2130"
                     /db_xref="HGNC:HGNC:3508"
                     /db_xref="MIM:133450"
ORIGIN      
        1 mastdystys qaaaqqgysa ytaqptqgya qttqaygqqs ygtygqptdv sytqaqttat
       61 ygqtayatsy gqpptgyttp tapqaysqpv qgygtgaydt ttatvtttqa syaaqsaygt
      121 qpaypaygqq paataptrpq dgnkptetsq pqsstggynq pslgygqsny sypqvpgsyp
      181 mqpvtappsy pptsysstqp tsydqssysq qntygqpssy gqqssygqqs sygqqpptsy
      241 ppqtgsysqa psqysqqsss ygqqssfrqd hpssmgvygq esggfsgpge nrsmsgpdnr
      301 grgrggfdrg gmsrggrggg rggmgagerg gfnkpggpmd egpdldlgpp vdpdedsdns
      361 aiyvqglnds vtlddladff kqcgvvkmnk rtgqpmihiy ldketgkpkg datvsyedpp
      421 takaavewfd gpggpggpgg pmgrmggrgg drggfpprgp rgsrgnpsgg gnvqhragdw
      481 qcpnpgcgnq nfawrtecnq cgdrgrggpg gmrggrgglm drggpggmfr ggrggdrggf
      541 rggrgmdrgg fgggrrggpg gppgplmeqm ggrrggrggp gkmdkgehrq errdrpy
//
LOCUS       XP_054208828             455 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM193B isoform X10 [Homo sapiens].
ACCESSION   XP_054208828
VERSION     XP_054208828.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352853.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..455
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..455
                     /product="protein FAM193B isoform X10"
                     /calculated_mol_wt=47683
     CDS             1..455
                     /gene="FAM193B"
                     /gene_synonym="IRIZIO"
                     /coded_by="XM_054352853.1:108..1475"
                     /db_xref="GeneID:54540"
                     /db_xref="HGNC:HGNC:25524"
                     /db_xref="MIM:615813"
ORIGIN      
        1 mtrrrsrpsg gagrrerara agpqkpqape pppppsleag agagppeapa epdhdgpred
       61 depnlvpgpq vppassqpvq tccllchrer kgweegpsqn glvlqgeklp pdfmpklvkn
      121 llgemplwvc qscrksmeed erqtgrehav aislshtsck sqscgddshs ssssssssss
      181 ssssscpgns gdwdpssfls ahklsglwns phssgampgs slgspptipg eafpvsehhq
      241 hsdltappns ptghhpqpas lipshpssfg spphphllpt tpaapfpaqa secpvaaata
      301 phtpgpcqss hlpstsmpll kmpppfsgcs hpcsghcggh csgpllppps sqplpsthrd
      361 pgckghkfah sglacqlpqp ceadeglgee edssserssc tsssthqrdg kfcdccycef
      421 fghnarserl gvmkaewkqk gsqspkcdsq prdrp
//
LOCUS       XP_054212907             309 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-1(III) chain [Homo sapiens].
ACCESSION   XP_054212907
VERSION     XP_054212907.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356932.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..309
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..309
                     /product="collagen alpha-1(III) chain"
                     /calculated_mol_wt=30968
     CDS             1..309
                     /gene="LOC124900217"
                     /coded_by="XM_054356932.1:38..967"
                     /db_xref="GeneID:124900217"
ORIGIN      
        1 magagrrrgi pqsasrrrga paciqhkgsp gqrrgaegsl aaparrgeag ragrtdgrtg
       61 arasghpgga gqewgpsrgc lapggvpppa glrgprgerk fqgqlwaaaa aaargaaspa
      121 evcrragkrr lllpslrige gggsegsaad tgreggeake rkgggekgrp gnhlrlprlp
      181 rpapaasggp gasahpvgag agaqsrdahv aaptplgspr avgqsprppp gpgcsavrap
      241 ggrrrqdgrg qlrslcspap lptalrsqer paprgtprap rgppalsyfp sgrwptllgr
      301 pggpqierl
//
LOCUS       XP_054216100             729 aa            linear   PRI 20-MAR-2023
DEFINITION  fibroblast growth factor receptor 1 isoform X23 [Homo sapiens].
ACCESSION   XP_054216100
VERSION     XP_054216100.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360125.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..729
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..729
                     /product="fibroblast growth factor receptor 1 isoform X23"
                     /calculated_mol_wt=81544
     CDS             1..729
                     /gene="FGFR1"
                     /gene_synonym="bFGF-R-1; BFGFR; CD331; CEK; ECCL; FGFBR;
                     FGFR-1; FLG; FLT-2; FLT2; HBGFR; HH2; HRTFDS; KAL2; N-SAM;
                     OGD"
                     /coded_by="XM_054360125.1:142..2331"
                     /db_xref="GeneID:2260"
                     /db_xref="HGNC:HGNC:3688"
                     /db_xref="MIM:136350"
ORIGIN      
        1 mwswkcllfw avlvtatlct arpsptlpeq dalpsseddd ddddssseek etdntkpnpv
       61 apywtspekm ekklhavpaa ktvkfkcpss gtpnptlrwl kngkefkpdh riggykvrya
      121 twsiimdsvv psdkgnytci veneygsinh tyqldvvers phrpilqagl panktvalgs
      181 nvefmckvys dpqphiqwlk hievngskig pdnlpyvqil ktagvnttdk emevlhlrnv
      241 sfedageytc lagnsiglsh hsawltvlea leerpavmts plyleiiiyc tgafliscmv
      301 gsvivykmks gtkksdfhsq mavhklaksi plrrqvsads sasmnsgvll vrpsrlsssg
      361 tpmlagvsey elpedprwel prdrlvlgkp lgegcfgqvv laeaigldkd kpnrvtkvav
      421 kmlksdatek dlsdliseme mmkmigkhkn iinllgactq dgplyvivey askgnlreyl
      481 qarrppgley cynpshnpee qlsskdlvsc ayqvargmey laskkcihrd laarnvlvte
      541 dnvmkiadfg lardihhidy ykkttngrlp vkwmapealf driythqsdv wsfgvllwei
      601 ftlggspypg vpveelfkll keghrmdkps nctnelymmm rdcwhavpsq rptfkqlved
      661 ldrivaltsn qeyldlsmpl dqyspsfpdt rsstcssged svfsheplpe epclprhpaq
      721 langglkrr
//
LOCUS       XP_047301254              78 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-defensin 105 [Homo sapiens].
ACCESSION   XP_047301254
VERSION     XP_047301254.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047445298.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..78
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..78
                     /product="beta-defensin 105"
                     /calculated_mol_wt=8791
     Region          45..74
                     /region_name="Defensin_beta_2"
                     /note="Beta defensin; pfam13841"
                     /db_xref="CDD:433520"
     CDS             1..78
                     /gene="LOC124906747"
                     /coded_by="XM_047445298.1:1..237"
                     /db_xref="GeneID:124906747"
ORIGIN      
        1 malirktfyf lfamffilvq lpsgcqagld fsqpfpsgef avcescklgr gkcrkeclen
       61 ekpdgncrln flccrqri
//
LOCUS       XP_054220300             562 aa            linear   PRI 20-MAR-2023
DEFINITION  maternal embryonic leucine zipper kinase isoform X12 [Homo
            sapiens].
ACCESSION   XP_054220300
VERSION     XP_054220300.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364325.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..562
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..562
                     /product="maternal embryonic leucine zipper kinase isoform
                     X12"
                     /calculated_mol_wt=64493
     CDS             1..562
                     /gene="MELK"
                     /gene_synonym="HPK38"
                     /coded_by="XM_054364325.1:235..1923"
                     /db_xref="GeneID:9833"
                     /db_xref="HGNC:HGNC:16870"
                     /db_xref="MIM:607025"
ORIGIN      
        1 mkdydellky yelhetigtg gfakvklach iltgemvaik imdkntlgsd lprikteiea
       61 lknlrhqhic qlyhvletan kifmvleenl lfdeyhklkl idfglcakpk gnkdyhlqtc
      121 cgslayaape liqgksylgs eadvwsmgil lyvlmcgflp fdddnvmaly kkimrgkydv
      181 pkwlspssil llqqmlqvdp kkrismknll nhpwimqdyn ypvewqsknp fihldddcvt
      241 elsvhhrnnr qtmedlislw qydhltatyl lllakkargk pvrlrlssfs cgqasatpft
      301 dikftkywte sngveskslt palcrtpank lknkenvytp ksavkneeyf mfpepktpvn
      361 knqhkreilt tpnryttpsk arnqclketp ikipvnstgt dklmtgvisp errcrsveld
      421 lnqahmeetp krkgakvfgs lergldkvit vltrskrkgs ardgprrlkl hynvtttrlv
      481 npdqllneim silpkkhvdf vqkgytlkcq tqsdfgkvtm qfelevcqlq kpdvvgirrq
      541 rlkgdawvyk rlvedilssc kv
//
LOCUS       XP_054182671             266 aa            linear   PRI 20-MAR-2023
DEFINITION  fibroblast growth factor 13 isoform X1 [Homo sapiens].
ACCESSION   XP_054182671
VERSION     XP_054182671.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326696.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..266
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..266
                     /product="fibroblast growth factor 13 isoform X1"
                     /calculated_mol_wt=29761
     CDS             1..266
                     /gene="FGF13"
                     /gene_synonym="DEE90; FGF-13; FGF2; FHF-2; FHF2;
                     LINC00889; XLID110"
                     /coded_by="XM_054326696.1:340..1140"
                     /db_xref="GeneID:2258"
                     /db_xref="HGNC:HGNC:3670"
                     /db_xref="MIM:300070"
ORIGIN      
        1 msgkvtkpke ekdaskgvct lrhaackvld dappgtqeyi mlrqdsiqsa elkkkespfr
       61 akcheifccp lkqvhhkent epeepqlkgi vtklysrqgy hlqlqadgti dgtkdedsty
      121 tlfnlipvgl rvvaiqgvqt klylamnseg ylytselftp eckfkesvfe nyyvtyssmi
      181 yrqqqsgrgw ylglnkegei mkgnhvkknk paahflpkpl kvamykepsl hdltefsrsg
      241 sgtptksrsv sgvlnggksm shnest
//
LOCUS       NP_001381800            1637 aa            linear   PRI 21-MAR-2023
DEFINITION  protein polybromo-1 isoform 18 [Homo sapiens].
ACCESSION   NP_001381800
VERSION     NP_001381800.1
DBSOURCE    REFSEQ: accession NM_001394871.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1637)
  AUTHORS   Yamashita N, Morimoto Y, Fushimi A, Ahmad R, Bhattacharya A, Daimon
            T, Haratake N, Inoue Y, Ishikawa S, Yamamoto M, Hata T, Akiyoshi S,
            Hu Q, Liu T, Withers H, Liu S, Shapiro GI, Yoshizumi T, Long MD and
            Kufe D.
  TITLE     MUC1-C Dictates PBRM1-Mediated Chronic Induction of Interferon
            Signaling, DNA Damage Resistance, and Immunosuppression in
            Triple-Negative Breast Cancer
  JOURNAL   Mol Cancer Res 21 (3), 274-289 (2023)
   PUBMED   36445328
  REMARK    GeneRIF: MUC1-C Dictates PBRM1-Mediated Chronic Induction of
            Interferon Signaling, DNA Damage Resistance, and Immunosuppression
            in Triple-Negative Breast Cancer.
REFERENCE   2  (residues 1 to 1637)
  AUTHORS   Walton J, Lawson K, Prinos P, Finelli A, Arrowsmith C and Ailles L.
  TITLE     PBRM1, SETD2 and BAP1 - the trinity of 3p in clear cell renal cell
            carcinoma
  JOURNAL   Nat Rev Urol 20 (2), 96-115 (2023)
   PUBMED   36253570
  REMARK    GeneRIF: PBRM1, SETD2 and BAP1 - the trinity of 3p in clear cell
            renal cell carcinoma.
            Review article
REFERENCE   3  (residues 1 to 1637)
  AUTHORS   Miao XY, Wu H, Ye BC, Yi QW, Lin FN, Wang YL, Ren CL, Jiang YF and
            Li A.
  TITLE     Non-small cell lung cancer carrying PBRM1 mutation suggests an
            immunologically cold phenotype leading to immunotherapy failure
            even with high TMB
  JOURNAL   Sci Rep 12 (1), 20734 (2022)
   PUBMED   36456601
  REMARK    GeneRIF: Nonsmall cell lung cancer carrying PBRM1 mutation suggests
            an immunologically cold phenotype leading to immunotherapy failure
            even with high TMB.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1637)
  AUTHORS   He X, Xu J, Niu N, Xu G, Zhu H, Liu Z, Mou Y, Qian Z, Wang H, Hu J,
            Ma T, Ma J and Tao H.
  TITLE     PBRM1 presents a potential prognostic marker and therapeutic target
            in duodenal papillary carcinoma
  JOURNAL   Clin Transl Med 12 (10), e1062 (2022)
   PUBMED   36178086
  REMARK    GeneRIF: PBRM1 presents a potential prognostic marker and
            therapeutic target in duodenal papillary carcinoma.
REFERENCE   5  (residues 1 to 1637)
  AUTHORS   Zhou Z, Huang D, Yang S, Liang J, Wang X and Rao Q.
  TITLE     Clinicopathological Significance, Related Molecular Changes and
            Tumor Immune Response Analysis of the Abnormal SWI/SNF Complex
            Subunit PBRM1 in Gastric Adenocarcinoma
  JOURNAL   Pathol Oncol Res 28, 1610479 (2022)
   PUBMED   35928964
  REMARK    GeneRIF: Clinicopathological Significance, Related Molecular
            Changes and Tumor Immune Response Analysis of the Abnormal SWI/SNF
            Complex Subunit PBRM1 in Gastric Adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1637)
  AUTHORS   Horikawa I and Barrett JC.
  TITLE     cDNA cloning of the human polybromo-1 gene on chromosome 3p21
  JOURNAL   DNA Seq 13 (4), 211-215 (2002)
   PUBMED   12487023
  REMARK    GeneRIF: cDNA cloning; the hPB1 gene is located on chromosome 3p21,
            where the tumor suppressor genes for breast, lung and kidney
            cancers have been mapped
REFERENCE   7  (residues 1 to 1637)
  AUTHORS   Phelan ML, Sif S, Narlikar GJ and Kingston RE.
  TITLE     Reconstitution of a core chromatin remodeling complex from SWI/SNF
            subunits
  JOURNAL   Mol Cell 3 (2), 247-253 (1999)
   PUBMED   10078207
REFERENCE   8  (residues 1 to 1637)
  AUTHORS   Reyes JC, Muchardt C and Yaniv M.
  TITLE     Components of the human SWI/SNF complex are enriched in active
            chromatin and are associated with the nuclear matrix
  JOURNAL   J Cell Biol 137 (2), 263-274 (1997)
   PUBMED   9128241
REFERENCE   9  (residues 1 to 1637)
  AUTHORS   Wang W, Cote J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C,
            Kalpana GV, Goff SP, Yaniv M, Workman JL and Crabtree GR.
  TITLE     Purification and biochemical heterogeneity of the mammalian SWI-SNF
            complex
  JOURNAL   EMBO J 15 (19), 5370-5382 (1996)
   PUBMED   8895581
REFERENCE   10 (residues 1 to 1637)
  AUTHORS   Wang W, Xue Y, Zhou S, Kuo A, Cairns BR and Crabtree GR.
  TITLE     Diversity and specialization of mammalian SWI/SNF complexes
  JOURNAL   Genes Dev 10 (17), 2117-2130 (1996)
   PUBMED   8804307
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104446.2 and AC112215.3.
            
            Summary: This locus encodes a subunit of ATP-dependent
            chromatin-remodeling complexes. The encoded protein has been
            identified as in integral component of complexes necessary for
            ligand-dependent transcriptional activation by nuclear hormone
            receptors. Mutations at this locus have been associated with
            primary clear cell renal cell carcinoma. [provided by RefSeq, Feb
            2012].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3555644.1,
                                           SRR14038196.1869260.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1637
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.1"
     Protein         1..1637
                     /product="protein polybromo-1 isoform 18"
                     /note="polybromo-1D; BRG1-associated factor 180"
                     /calculated_mol_wt=187748
     Region          44..156
                     /region_name="Bromo_polybromo_I"
                     /note="Bromodomain, polybromo repeat I. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05524"
                     /db_xref="CDD:99954"
     Site            order(76,81,84,123,127,133)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99954"
     Region          182..284
                     /region_name="Bromo_polybromo_II"
                     /note="Bromodomain, polybromo repeat II. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05517"
                     /db_xref="CDD:99948"
     Site            order(212,217,220,259,263,269)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99948"
     Region          383..484
                     /region_name="Bromo_polybromo_III"
                     /note="Bromodomain, polybromo repeat III. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05520"
                     /db_xref="CDD:99951"
     Site            order(412,417,420,459,463,469)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99951"
     Region          519..622
                     /region_name="Bromo_polybromo_IV"
                     /note="Bromodomain, polybromo repeat IV. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05518"
                     /db_xref="CDD:99949"
     Site            order(550,555,558,597,601,607)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99949"
     Region          658..762
                     /region_name="Bromo_polybromo_V"
                     /note="Bromodomain, polybromo repeat V. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05515"
                     /db_xref="CDD:99946"
     Site            order(688,693,696,735,739,745)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99946"
     Region          775..882
                     /region_name="Bromo_polybromo_VI"
                     /note="Bromodomain, polybromo repeat VI. Polybromo is a
                     nuclear protein of unknown function, which contains 6
                     bromodomains. The human ortholog BAF180 is part of a
                     SWI/SNF chromatin-remodeling complex, and it may carry out
                     the functions of Yeast Rsc-1 and Rsc-2; cd05526"
                     /db_xref="CDD:99956"
     Site            order(808,809,812,851,855,861)
                     /site_type="other"
                     /note="putative acetyllysine binding site [chemical
                     binding]"
                     /db_xref="CDD:99956"
     Region          957..1074
                     /region_name="BAH_polybromo"
                     /note="BAH, or Bromo Adjacent Homology domain, as present
                     in polybromo and yeast RSC1/2. The human polybromo protein
                     (BAF180) is a component of the SWI/SNF
                     chromatin-remodeling complex PBAF. It is thought that
                     polybromo participates in transcriptional...; cd04717"
                     /db_xref="CDD:240068"
     Region          1155..1273
                     /region_name="BAH_polybromo"
                     /note="BAH, or Bromo Adjacent Homology domain, as present
                     in polybromo and yeast RSC1/2. The human polybromo protein
                     (BAF180) is a component of the SWI/SNF
                     chromatin-remodeling complex PBAF. It is thought that
                     polybromo participates in transcriptional...; cd04717"
                     /db_xref="CDD:240068"
     Region          1380..1439
                     /region_name="HMG-box_PB1"
                     /note="high mobility group (HMG)-box found in protein
                     polybromo-1 (PB1) and similar proteins; cd21984"
                     /db_xref="CDD:438800"
     Site            order(1380..1381,1383..1387,1390..1391,1398,1410..1411,
                     1414,1417..1418,1425,1429,1432,1436,1439)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438800"
     CDS             1..1637
                     /gene="PBRM1"
                     /gene_synonym="BAF180; PB1; RCC; SMARCH1"
                     /coded_by="NM_001394871.1:181..5094"
                     /note="isoform 18 is encoded by transcript variant 22"
                     /db_xref="GeneID:55193"
                     /db_xref="HGNC:HGNC:30064"
                     /db_xref="MIM:606083"
ORIGIN      
        1 mgskrrrats psssvsgdfd dghhsvstpg psrkrrrlsn lptvdpiavc helyntirdy
       61 kdeqgrllce lfirapkrrn qpdyyevvsq pidlmkiqqk lkmeeyddvn lltadfqllf
      121 nnaksyykpd speykaackl wdlylrtrne fvqkgeadde dddedgqdnq gtvtegsspa
      181 ylkeileqll eaivvatnps grliselfqk lpskvqypdy yaiikepidl ktiaqriqng
      241 syksihamak didllaknak tynepgsqvf kdansikkif ymkkaeiehh emaksslrmr
      301 tpsnlaaarl tgpshskgsl geernptsky yrnkravqgg rlsaitmalq ygseseedaa
      361 laaaryeege seaesitsfm dvsnpfyqly dtvrscrnnq gqliaepfyh lpskkkypdy
      421 yqqikmpisl qqirtklknq eyetldhlec dlnlmfenak rynvpnsaiy krvlklqqvm
      481 qakkkelarr ddiedgdsmi ssatsdtgsa krkskknirk qrmkilfnvv learepgsgr
      541 rlcdlfmvkp skkdypdyyk iilepmdlki iehnirndky ageegmiedm klmfrnarhy
      601 neegsqvynd ahilekllke krkelgplpd dddmaspklk lsrksgispk kskymtpmqq
      661 klnevyeavk nytdkrgrrl saiflrlpsr selpdyylti kkpmdmekir shmmankyqd
      721 idsmvedfvm mfnnactyne pesliykdal vlhkvlletr rdlegdedsh vpnvtlliqe
      781 lihnlfvsvm shqddegrcy sdslaeipav dpnfpnkppl tfdiirknve nnryrrldlf
      841 qehmfevler arrmnrtdse iyedavelqq ffikirdelc kngeillspa lsyttkhlhn
      901 dvekerkekl pkeieedklk reeekreaek sedssgaagl sglhrtysqd csfknsmyhv
      961 gdyvyvepae anlqphivci erlwedsage kwlygcwfyr pnetfhlatr kflekevfks
     1021 dyynkvpvsk ilgkcvvmfv keyfklcpen frdedvfvce srysaktksf kkiklwtmpi
     1081 ssvrfvprdv plpvvrvasv fanadkgdde kntdnsedsr aednfnleke kedvpvemsn
     1141 gepgchyfeq lhyndmwlkv gdcvfikshg lvrprvgrie kvwvrdgaay fygpifihpe
     1201 eteheptkmf ykkevflsnl eetcpmtcil gkcavlsfkd flscrpteip endillcesr
     1261 ynesdkqmkk fkglkrfsls akvvddeiyy frkpivpqke pspllekkiq lleakfaele
     1321 ggdddieemg eedseviepp slpqlqtpla seldlmpytp pqstpksakg sakkegskrk
     1381 inmsgyilfs semravikaq hpdysfgels rlvgtewrnl etakkaeyee raakvaeqqe
     1441 reraaqqqqp saspragtpv galmgvvppp tpmgmlnqql tpvagvmnqg vapmvgtpap
     1501 ggspygqqvg vlgppgqqap ppypgphpag ppviqqpttp mfvapppktq rllhseaylk
     1561 yieglsaesn siskwdqtla arrrdvhlsk eqesrlpshw lkskgahttm adalwrlrdl
     1621 mlrdtlnirq aynlenv
//
LOCUS       NP_001180209             451 aa            linear   PRI 23-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase Midline-1 isoform 5 [Homo sapiens].
ACCESSION   NP_001180209
VERSION     NP_001180209.1
DBSOURCE    REFSEQ: accession NM_001193280.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 451)
  AUTHORS   Kaur A, Gladu EM, Wright KM, Webb JA and Massiah MA.
  TITLE     B-box1 Domain of MID1 Interacts with the Ube2D1 E2 Enzyme
            Differently Than RING E3 Ligases
  JOURNAL   Biochemistry 62 (5), 1012-1025 (2023)
   PUBMED   36820504
  REMARK    GeneRIF: B-box1 Domain of MID1 Interacts with the Ube2D1 E2 Enzyme
            Differently Than RING E3 Ligases.
REFERENCE   2  (residues 1 to 451)
  AUTHORS   Chen X, Wang L, Yu H, Shen Q, Hou Y, Xia YX, Li L, Chang L and Li
            WH.
  TITLE     Irradiated lung cancer cell-derived exosomes modulate macrophage
            polarization by inhibiting MID1 via miR-4655-5p
  JOURNAL   Mol Immunol 155, 58-68 (2023)
   PUBMED   36709645
  REMARK    GeneRIF: Irradiated lung cancer cell-derived exosomes modulate
            macrophage polarization by inhibiting MID1 via miR-4655-5p.
REFERENCE   3  (residues 1 to 451)
  AUTHORS   Rezig IM, Yaduma WG, Gould GW and McInerny CJ.
  TITLE     The role of anillin/Mid1p during medial division and cytokinesis:
            from fission yeast to cancer cells
  JOURNAL   Cell Cycle 22 (6), 633-644 (2023)
   PUBMED   36426865
  REMARK    GeneRIF: The role of anillin/Mid1p during medial division and
            cytokinesis: from fission yeast to cancer cells.
            Review article
REFERENCE   4  (residues 1 to 451)
  AUTHORS   Fang M, Zhang A, Du Y, Lu W, Wang J, Minze LJ, Cox TC, Li XC, Xing
            J and Zhang Z.
  TITLE     TRIM18 is a critical regulator of viral myocarditis and organ
            inflammation
  JOURNAL   J Biomed Sci 29 (1), 55 (2022)
   PUBMED   35909127
  REMARK    GeneRIF: TRIM18 is a critical regulator of viral myocarditis and
            organ inflammation.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 451)
  AUTHORS   Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL,
            Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A and Muenke M.
  TITLE     Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in
            the carboxy-terminal domain
  JOURNAL   Am J Hum Genet 63 (3), 703-710 (1998)
   PUBMED   9718340
  REMARK    Erratum:[Am J Hum Genet 1998 Nov;63(5):1571]
REFERENCE   6  (residues 1 to 451)
  AUTHORS   Perry J, Feather S, Smith A, Palmer S and Ashworth A.
  TITLE     The human FXY gene is located within Xp22.3: implications for
            evolution of the mammalian X chromosome
  JOURNAL   Hum Mol Genet 7 (2), 299-305 (1998)
   PUBMED   9425238
REFERENCE   7  (residues 1 to 451)
  AUTHORS   Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W,
            Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam
            RC, Opitz JM, Muenke M, Ropers HH and Ballabio A.
  TITLE     Opitz G/BBB syndrome, a defect of midline development, is due to
            mutations in a new RING finger gene on Xp22
  JOURNAL   Nat Genet 17 (3), 285-291 (1997)
   PUBMED   9354791
REFERENCE   8  (residues 1 to 451)
  AUTHORS   Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard
            CO, Burton BK, Josephson KD, Laxova R, Aleck KA, Allanson JE,
            Guion-Almeida ML, Martin RA, Leichtman LG, Price RA, Opitz JM and
            Muenke M.
  TITLE     Opitz syndrome is genetically heterogeneous, with one locus on
            Xp22, and a second locus on 22q11.2
  JOURNAL   Nat Genet 11 (4), 459-461 (1995)
   PUBMED   7493033
REFERENCE   9  (residues 1 to 451)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301753
REFERENCE   10 (residues 1 to 451)
  AUTHORS   Meroni,G.
  TITLE     X-Linked Opitz G/BBB Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301502
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF035360.1, AY540023.1 and
            AI371111.1.
            
            Summary: The protein encoded by this gene is a member of the
            tripartite motif (TRIM) family, also known as the 'RING-B
            box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM
            motif includes three zinc-binding domains, a RING, a B-box type 1
            and a B-box type 2, and a coiled-coil region. This protein forms
            homodimers which associate with microtubules in the cytoplasm. The
            protein is likely involved in the formation of multiprotein
            structures acting as anchor points to microtubules. Mutations in
            this gene have been associated with the X-linked form of Opitz
            syndrome, which is characterized by midline abnormalities such as
            cleft lip, laryngeal cleft, heart defects, hypospadias, and
            agenesis of the corpus callosum. This gene was also the first
            example of a gene subject to X inactivation in human while escaping
            it in mouse. Alternative promoter use, alternative splicing and
            alternative polyadenylation result in multiple transcript variants
            that have different tissue specificities. [provided by RefSeq, Dec
            2016].
            
            Transcript Variant: This variant (8) has an alternate splice site
            in the CDS and also lacks several 3' exons but has an alternate 3'
            segment, as compared to variant 1. The resulting isoform (5) lacks
            an internal segment in the N-terminal region and has a shorter and
            different C-terminus, as compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY540023.1, BF204562.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..451
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     Protein         1..451
                     /product="E3 ubiquitin-protein ligase Midline-1 isoform 5"
                     /EC_number="2.3.2.27"
                     /note="putative transcription factor XPRF; tripartite
                     motif protein TRIM18; zinc finger on X and Y, mouse,
                     homolog of; tripartite motif-containing protein 18; RING
                     finger protein 59; midline 1 RING finger protein; RING
                     finger protein Midline-1; E3 ubiquitin-protein ligase
                     Midline-1; Opitz/BBB syndrome; RING-type E3 ubiquitin
                     transferase Midline-1"
                     /calculated_mol_wt=50932
     Region          3..74
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Site            order(10,13,25,27,30,33,56,59)
                     /site_type="other"
                     /note="cross-brace motif"
                     /db_xref="CDD:438111"
     Region          115..164
                     /region_name="Bbox1_MID1_C-I"
                     /note="B-box-type 1 zinc finger found in midline-1 (MID1)
                     and similar proteins; cd19836"
                     /db_xref="CDD:380894"
     Region          182..306
                     /region_name="BBC"
                     /note="B-Box C-terminal domain; smart00502"
                     /db_xref="CDD:128778"
     Region          285..336
                     /region_name="COS"
                     /note="TRIM C-terminal subgroup One Signature domain;
                     pfam18568"
                     /db_xref="CDD:436584"
     CDS             1..451
                     /gene="MID1"
                     /gene_synonym="BBBG1; FXY; GBBB; GBBB1; MIDIN; OGS1; OS;
                     OSX; RNF59; TRIM18; XPRF; ZNFXY"
                     /coded_by="NM_001193280.1:57..1412"
                     /note="isoform 5 is encoded by transcript variant 8"
                     /db_xref="GeneID:4281"
                     /db_xref="HGNC:HGNC:7095"
                     /db_xref="MIM:300552"
ORIGIN      
        1 metleseltc piclelfedp lllpcahslc fncahrilvs hcatnesves itafqcptcr
       61 hvitlsqrgl dglkrnvtlq niidrfqkas vsgpnspset rrerafdant mtsaekvlcq
      121 fcdqdpaqda vktcvtcevs ycdeclkath pnkkpftghr liepipdshi rglmclehed
      181 ekqnlesnlt nlikrntele tllakliqtc qhvevnasrq eaklteecdl lieiiqqrrq
      241 iigtkikegk vmrlrklaqq ianckqcier saslisqaeh slkendharf lqtakniter
      301 vsmatassqv lipeinlndt fdtfaldfsr ekkllecldy ltapnpptir eelctasydt
      361 itvhwtsdde fsvvsyelqy tiftgqanvv seylmaylfl slvaffrlia flnlnfkgrq
      421 grkehtifid lsflnkkvia ltcttlvkta g
//
LOCUS       NP_001395403             693 aa            linear   PRI 25-MAR-2023
DEFINITION  breast cancer type 1 susceptibility protein isoform 124 [Homo
            sapiens].
ACCESSION   NP_001395403
VERSION     NP_001395403.1
DBSOURCE    REFSEQ: accession NM_001408474.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 693)
  AUTHORS   Orban TI and Olah E.
  TITLE     Emerging roles of BRCA1 alternative splicing
  JOURNAL   Mol Pathol 56 (4), 191-197 (2003)
   PUBMED   12890739
  REMARK    Review article
REFERENCE   2  (residues 1 to 693)
  AUTHORS   Orban TI and Olah E.
  TITLE     Expression profiles of BRCA1 splice variants in asynchronous and in
            G1/S synchronized tumor cell lines
  JOURNAL   Biochem Biophys Res Commun 280 (1), 32-38 (2001)
   PUBMED   11162473
REFERENCE   3  (residues 1 to 693)
  AUTHORS   Paterson JW.
  TITLE     BRCA1: a review of structure and putative functions
  JOURNAL   Dis Markers 13 (4), 261-274 (1998)
   PUBMED   9553742
  REMARK    Review article
REFERENCE   4  (residues 1 to 693)
  AUTHORS   Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S,
            Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E.
  TITLE     Mutations and alternative splicing of the BRCA1 gene in UK
            breast/ovarian cancer families
  JOURNAL   Genes Chromosomes Cancer 18 (2), 102-110 (1997)
   PUBMED   9115959
REFERENCE   5  (residues 1 to 693)
  AUTHORS   Wilson CA, Payton MN, Elliott GS, Buaas FW, Cajulis EE, Grosshans
            D, Ramos L, Reese DM, Slamon DJ and Calzone FJ.
  TITLE     Differential subcellular localization, expression and biological
            toxicity of BRCA1 and the splice variant BRCA1-delta11b
  JOURNAL   Oncogene 14 (1), 1-16 (1997)
   PUBMED   9010228
REFERENCE   6  (residues 1 to 693)
  AUTHORS   Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, Yao J, Farid
            LM, Couch FJ, Wilson RB and Weber BL.
  TITLE     Localization of BRCA1 and a splice variant identifies the nuclear
            localization signal
  JOURNAL   Mol Cell Biol 17 (1), 444-452 (1997)
   PUBMED   8972225
REFERENCE   7  (residues 1 to 693)
  AUTHORS   Lu M, Conzen SD, Cole CN and Arrick BA.
  TITLE     Characterization of functional messenger RNA splice variants of
            BRCA1 expressed in nonmalignant and tumor-derived breast cells
  JOURNAL   Cancer Res 56 (20), 4578-4581 (1996)
   PUBMED   8840964
REFERENCE   8  (residues 1 to 693)
  AUTHORS   Holt JT, Thompson ME, Szabo C, Robinson-Benion C, Arteaga CL, King
            MC and Jensen RA.
  TITLE     Growth retardation and tumour inhibition by BRCA1
  JOURNAL   Nat Genet 12 (3), 298-302 (1996)
   PUBMED   8589721
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
REFERENCE   9  (residues 1 to 693)
  AUTHORS   Xu CF, Brown MA, Chambers JA, Griffiths B, Nicolai H and Solomon E.
  TITLE     Distinct transcription start sites generate two forms of BRCA1 mRNA
  JOURNAL   Hum Mol Genet 4 (12), 2259-2264 (1995)
   PUBMED   8634696
REFERENCE   10 (residues 1 to 693)
  AUTHORS   Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K,
            Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al.
  TITLE     A strong candidate for the breast and ovarian cancer susceptibility
            gene BRCA1
  JOURNAL   Science 266 (5182), 66-71 (1994)
   PUBMED   7545954
REFERENCE   11 (residues 1 to 693)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
REFERENCE   12 (residues 1 to 693)
  AUTHORS   Petrucelli,N., Daly,M.B. and Pal,T.
  TITLE     BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135721.4.
            
            Summary: This gene encodes a 190 kD nuclear phosphoprotein that
            plays a role in maintaining genomic stability, and it also acts as
            a tumor suppressor. The BRCA1 gene contains 22 exons spanning about
            110 kb of DNA. The encoded protein combines with other tumor
            suppressors, DNA damage sensors, and signal transducers to form a
            large multi-subunit protein complex known as the BRCA1-associated
            genome surveillance complex (BASC). This gene product associates
            with RNA polymerase II, and through the C-terminal domain, also
            interacts with histone deacetylase complexes. This protein thus
            plays a role in transcription, DNA repair of double-stranded
            breaks, and recombination. Mutations in this gene are responsible
            for approximately 40% of inherited breast cancers and more than 80%
            of inherited breast and ovarian cancers. Alternative splicing plays
            a role in modulating the subcellular localization and physiological
            function of this gene. Many alternatively spliced transcript
            variants, some of which are disease-associated mutations, have been
            described for this gene, but the full-length natures of only some
            of these variants has been described. A related pseudogene, which
            is also located on chromosome 17, has been identified. [provided by
            RefSeq, May 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.118357.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..693
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..693
                     /product="breast cancer type 1 susceptibility protein
                     isoform 124"
                     /EC_number="2.3.2.27"
                     /note="BRCA1/BRCA2-containing complex, subunit 1; RING
                     finger protein 53; breast cancer type 1 susceptibility
                     protein; breast and ovarian cancer susceptibility protein
                     1; protein phosphatase 1, regulatory subunit 53; Fanconi
                     anemia, complementation group S; early onset breast cancer
                     1; breast cancer 1, early onset"
                     /calculated_mol_wt=77582
     Region          7..73
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Region          480..576
                     /region_name="BRCT_BRCA1_rpt1"
                     /note="first BRCT domain of breast cancer type 1
                     susceptibility protein (BRCA1) and similar proteins;
                     cd17735"
                     /db_xref="CDD:349367"
     Site            order(484..486,488,528..532,534,570)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349367"
     Region          588..685
                     /region_name="BRCT_BRCA1_rpt2"
                     /note="second (C-terminal) BRCT domain of breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd17721"
                     /db_xref="CDD:349353"
     Site            order(604..605,665..666,670,682..683)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349353"
     CDS             1..693
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /coded_by="NM_001408474.1:114..2195"
                     /note="isoform 124 is encoded by transcript variant 332"
                     /db_xref="GeneID:672"
                     /db_xref="HGNC:HGNC:1100"
                     /db_xref="MIM:113705"
ORIGIN      
        1 mdlsalrvee vqnvinamqk ilecpiclel ikepvstkcd hifckslqes trfsqlveel
       61 lkiicafqld tgleyansyn fakkennspe hlkdevsiiq smgyrnrakr llqsepenps
      121 lqetslsvql snlgtvrtlr tkqriqpqkt svyielaace fsetdvtnte hhqpsnndln
      181 ttekraaerh pekyqgeaas gcesetsvse dcsglssqsd ilttqqrdtm qhnliklqqe
      241 maeleavleq hgsqpsnsyp siisdssale dlrnpeqsts ekavltsqks seypisqnpe
      301 glsadkfevs adsstsknke pgversspsk cpslddrwym hscsgslqnr nypsqeelik
      361 vvdveeqqle esgphdltet sylprqdleg tpylesgisl fsddpesdps edrapesarv
      421 gnipsstsal kvpqlkvaes aqspaaahtt dtagynamee svsrekpelt astervnkrm
      481 smvvsgltpe efmlvykfar khhitltnli teetthvvmk tdaefvcert lkyflgiagg
      541 kwvvsyfwvt qsikerkmln ehdfevrgdv vngrnhqgpk raresqdrki frgleiccyg
      601 pftnmptdql ewmvqlcgas vvkelssftl gtgvhpivvv qpdawtedng fhaigqmcea
      661 pvvtrewvld svalyqcqel dtylipqiph shy
//
LOCUS       NP_001394500            1792 aa            linear   PRI 25-MAR-2023
DEFINITION  breast cancer type 1 susceptibility protein isoform 6 [Homo
            sapiens].
ACCESSION   NP_001394500
VERSION     NP_001394500.1
DBSOURCE    REFSEQ: accession NM_001407571.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1792)
  AUTHORS   Orban TI and Olah E.
  TITLE     Emerging roles of BRCA1 alternative splicing
  JOURNAL   Mol Pathol 56 (4), 191-197 (2003)
   PUBMED   12890739
  REMARK    Review article
REFERENCE   2  (residues 1 to 1792)
  AUTHORS   Orban TI and Olah E.
  TITLE     Expression profiles of BRCA1 splice variants in asynchronous and in
            G1/S synchronized tumor cell lines
  JOURNAL   Biochem Biophys Res Commun 280 (1), 32-38 (2001)
   PUBMED   11162473
REFERENCE   3  (residues 1 to 1792)
  AUTHORS   Paterson JW.
  TITLE     BRCA1: a review of structure and putative functions
  JOURNAL   Dis Markers 13 (4), 261-274 (1998)
   PUBMED   9553742
  REMARK    Review article
REFERENCE   4  (residues 1 to 1792)
  AUTHORS   Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S,
            Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E.
  TITLE     Mutations and alternative splicing of the BRCA1 gene in UK
            breast/ovarian cancer families
  JOURNAL   Genes Chromosomes Cancer 18 (2), 102-110 (1997)
   PUBMED   9115959
REFERENCE   5  (residues 1 to 1792)
  AUTHORS   Wilson CA, Payton MN, Elliott GS, Buaas FW, Cajulis EE, Grosshans
            D, Ramos L, Reese DM, Slamon DJ and Calzone FJ.
  TITLE     Differential subcellular localization, expression and biological
            toxicity of BRCA1 and the splice variant BRCA1-delta11b
  JOURNAL   Oncogene 14 (1), 1-16 (1997)
   PUBMED   9010228
REFERENCE   6  (residues 1 to 1792)
  AUTHORS   Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, Yao J, Farid
            LM, Couch FJ, Wilson RB and Weber BL.
  TITLE     Localization of BRCA1 and a splice variant identifies the nuclear
            localization signal
  JOURNAL   Mol Cell Biol 17 (1), 444-452 (1997)
   PUBMED   8972225
REFERENCE   7  (residues 1 to 1792)
  AUTHORS   Lu M, Conzen SD, Cole CN and Arrick BA.
  TITLE     Characterization of functional messenger RNA splice variants of
            BRCA1 expressed in nonmalignant and tumor-derived breast cells
  JOURNAL   Cancer Res 56 (20), 4578-4581 (1996)
   PUBMED   8840964
REFERENCE   8  (residues 1 to 1792)
  AUTHORS   Holt JT, Thompson ME, Szabo C, Robinson-Benion C, Arteaga CL, King
            MC and Jensen RA.
  TITLE     Growth retardation and tumour inhibition by BRCA1
  JOURNAL   Nat Genet 12 (3), 298-302 (1996)
   PUBMED   8589721
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
REFERENCE   9  (residues 1 to 1792)
  AUTHORS   Xu CF, Brown MA, Chambers JA, Griffiths B, Nicolai H and Solomon E.
  TITLE     Distinct transcription start sites generate two forms of BRCA1 mRNA
  JOURNAL   Hum Mol Genet 4 (12), 2259-2264 (1995)
   PUBMED   8634696
REFERENCE   10 (residues 1 to 1792)
  AUTHORS   Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K,
            Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al.
  TITLE     A strong candidate for the breast and ovarian cancer susceptibility
            gene BRCA1
  JOURNAL   Science 266 (5182), 66-71 (1994)
   PUBMED   7545954
REFERENCE   11 (residues 1 to 1792)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
REFERENCE   12 (residues 1 to 1792)
  AUTHORS   Petrucelli,N., Daly,M.B. and Pal,T.
  TITLE     BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135721.4.
            
            Summary: This gene encodes a 190 kD nuclear phosphoprotein that
            plays a role in maintaining genomic stability, and it also acts as
            a tumor suppressor. The BRCA1 gene contains 22 exons spanning about
            110 kb of DNA. The encoded protein combines with other tumor
            suppressors, DNA damage sensors, and signal transducers to form a
            large multi-subunit protein complex known as the BRCA1-associated
            genome surveillance complex (BASC). This gene product associates
            with RNA polymerase II, and through the C-terminal domain, also
            interacts with histone deacetylase complexes. This protein thus
            plays a role in transcription, DNA repair of double-stranded
            breaks, and recombination. Mutations in this gene are responsible
            for approximately 40% of inherited breast cancers and more than 80%
            of inherited breast and ovarian cancers. Alternative splicing plays
            a role in modulating the subcellular localization and physiological
            function of this gene. Many alternatively spliced transcript
            variants, some of which are disease-associated mutations, have been
            described for this gene, but the full-length natures of only some
            of these variants has been described. A related pseudogene, which
            is also located on chromosome 17, has been identified. [provided by
            RefSeq, May 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF005068.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1792
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..1792
                     /product="breast cancer type 1 susceptibility protein
                     isoform 6"
                     /EC_number="2.3.2.27"
                     /note="BRCA1/BRCA2-containing complex, subunit 1; RING
                     finger protein 53; breast cancer type 1 susceptibility
                     protein; breast and ovarian cancer susceptibility protein
                     1; protein phosphatase 1, regulatory subunit 53; Fanconi
                     anemia, complementation group S; early onset breast cancer
                     1; breast cancer 1, early onset"
                     /calculated_mol_wt=199476
     Region          <2..29
                     /region_name="RING_Ubox"
                     /note="RING finger (Really Interesting New Gene) domain
                     and U-box domain superfamily; cl17238"
                     /db_xref="CDD:450175"
     Region          274..436
                     /region_name="BRCT_assoc"
                     /note="Serine-rich domain associated with BRCT; pfam12820"
                     /db_xref="CDD:432806"
     Region          1579..1675
                     /region_name="BRCT_BRCA1_rpt1"
                     /note="first BRCT domain of breast cancer type 1
                     susceptibility protein (BRCA1) and similar proteins;
                     cd17735"
                     /db_xref="CDD:349367"
     Site            order(1583..1585,1587,1627..1631,1633,1669)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349367"
     Region          1687..1784
                     /region_name="BRCT_BRCA1_rpt2"
                     /note="second (C-terminal) BRCT domain of breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd17721"
                     /db_xref="CDD:349353"
     Site            order(1703..1704,1764..1765,1769,1781..1782)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349353"
     CDS             1..1792
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /coded_by="NM_001407571.1:391..5769"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="GeneID:672"
                     /db_xref="HGNC:HGNC:1100"
                     /db_xref="MIM:113705"
ORIGIN      
        1 mslqestrfs qlveellkii cafqldtgle yansynfakk ennspehlkd evsiiqsmgy
       61 rnrakrllqs epenpslets lsvqlsnlgt vrtlrtkqri qpqktsvyie lgsdssedtv
      121 nkatycsvgd qellqitpqg trdeisldsa kkaacefset dvtntehhqp snndlnttek
      181 raaerhpeky qgssvsnlhv epcgtnthas slqhenssll ltkdrmnvek aefcnkskqp
      241 glarsqhnrw agsketcndr rtpstekkvd lnadplcerk ewnkqklpcs enprdtedvp
      301 witlnssiqk vnewfsrsde llgsddshdg esesnakvad vldvlnevde ysgssekidl
      361 lasdpheali ckservhsks vesniedkif gktyrkkasl pnlshvtenl iigafvtepq
      421 iiqerpltnk lkrkrrptsg lhpedfikka dlavqktpem inqgtnqteq ngqvmnitns
      481 ghenktkgds iqneknpnpi eslekesafk tkaepisssi snmelelnih nskapkknrl
      541 rrksstrhih alelvvsrnl sppnctelqi dscssseeik kkkynqmpvr hsrnlqlmeg
      601 kepatgakks nkpneqtskr hdsdtfpelk ltnapgsftk csntselkef vnpslpreek
      661 eekletvkvs nnaedpkdlm lsgervlqte rsvesssisl vpgtdygtqe sisllevstl
      721 gkaktepnkc vsqcaafenp kglihgcskd nrndtegfky plghevnhsr etsiemeese
      781 ldaqylqntf kvskrqsfap fsnpgnaeee catfsahsgs lkkqspkvtf eceqkeenqg
      841 knesnikpvq tvnitagfpv vgqkdkpvdn akcsikggsr fclssqfrgn etglitpnkh
      901 gllqnpyrip plfpiksfvk tkckknllee nfeehsmspe remgnenips tvstisrnni
      961 renvfkeass sninevgsst nevgssinei gssdeniqae lgrnrgpkln amlrlgvlqp
     1021 evykqslpgs nckhpeikkq eyeevvqtvn tdfspylisd nleqpmgssh asqvcsetpd
     1081 dllddgeike dtsfaendik essavfsksv qkgelsrsps pfththlaqg yrrgakkles
     1141 seenlssede elpcfqhllf gkvnnipsqs trhstvatec lsknteenll slknslndcs
     1201 nqvilakasq ehhlseetkc saslfssqcs eledltantn tqdpfligss kqmrhqsesq
     1261 gvglsdkelv sddeergtgl eennqeeqsm dsnlgeaasg cesetsvsed csglssqsdi
     1321 lttqqrdtmq hnliklqqem aeleavleqh gsqpsnsyps iisdssaled lrnpeqstse
     1381 kavltsqkss eypisqnpeg lsadkfevsa dsstsknkep gversspskc pslddrwymh
     1441 scsgslqnrn ypsqeelikv vdveeqqlee sgphdltets ylprqdlegt pylesgislf
     1501 sddpesdpse drapesarvg nipsstsalk vpqlkvaesa qspaaahttd tagynamees
     1561 vsrekpelta stervnkrms mvvsgltpee fmlvykfark hhitltnlit eetthvvmkt
     1621 daefvcertl kyflgiaggk wvvsyfwvtq sikerkmlne hdfevrgdvv ngrnhqgpkr
     1681 aresqdrkif rgleiccygp ftnmptdqle wmvqlcgasv vkelssftlg tgvhpivvvq
     1741 pdawtedngf haigqmceap vvtrewvlds valyqcqeld tylipqiphs hy
//
LOCUS       NP_001353457            1140 aa            linear   PRI 26-MAR-2023
DEFINITION  plasma membrane calcium-transporting ATPase 1 isoform 4 [Homo
            sapiens].
ACCESSION   NP_001353457
VERSION     NP_001353457.1
DBSOURCE    REFSEQ: accession NM_001366528.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1140)
  AUTHORS   Yang X, Lu L, Wu C and Zhang F.
  TITLE     ATP2B1-AS1 exacerbates sepsis-induced cell apoptosis and
            inflammation by regulating miR-23a-3p/TLR4 axis
  JOURNAL   Allergol Immunopathol (Madr) 51 (2), 17-26 (2023)
   PUBMED   36916084
  REMARK    GeneRIF: ATP2B1-AS1 exacerbates sepsis-induced cell apoptosis and
            inflammation by regulating miR-23a-3p/TLR4 axis.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1140)
  AUTHORS   Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz
            F, Morleo M, Nigro V, Maitz S, Mancini GMS, Ruivenkamp C, Suk EK,
            Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D,
            Stegmann APA, Sinnema M, Duynisveld I, Salvarinova R, Race S, de
            Vries BBA, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N,
            Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Abou
            Jamra R and Oppermann H.
  TITLE     De novo variants in ATP2B1 lead to neurodevelopmental delay
  JOURNAL   Am J Hum Genet 109 (5), 944-952 (2022)
   PUBMED   35358416
  REMARK    GeneRIF: De novo variants in ATP2B1 lead to neurodevelopmental
            delay.
REFERENCE   3  (residues 1 to 1140)
  AUTHORS   Zhou ZY, Wang XJ and Chen GZ.
  TITLE     ATP2B1 gene rs71454161, rs73196661 and rs73196675 polymorphisms in
            eclampsia
  JOURNAL   Eur Rev Med Pharmacol Sci 26 (4), 1255-1262 (2022)
   PUBMED   35253182
  REMARK    GeneRIF: ATP2B1 gene rs71454161, rs73196661 and rs73196675
            polymorphisms in eclampsia.
REFERENCE   4  (residues 1 to 1140)
  AUTHORS   Khoshbakht S, Mokhtari M, Moravveji SS, Azimzadeh Jamalkandi S and
            Masoudi-Nejad A.
  TITLE     Re-wiring and gene expression changes of AC025034.1 and ATP2B1 play
            complex roles in early-to-late breast cancer progression
  JOURNAL   BMC Genom Data 23 (1), 6 (2022)
   PUBMED   35031021
  REMARK    GeneRIF: Re-wiring and gene expression changes of AC025034.1 and
            ATP2B1 play complex roles in early-to-late breast cancer
            progression.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1140)
  AUTHORS   Althwab SA, Ahmed AA, Rasheed Z, Alkhowailed M, Hershan A, Alsagaby
            S, Alblihed MA, Alaqeel A, Alrehaili J, Alhumaydhi FA, Alkhamiss A
            and Abdulmonem WA.
  TITLE     ATP2B1 genotypes rs2070759 and rs2681472 polymorphisms and risk of
            hypertension in Saudi population
  JOURNAL   Nucleosides Nucleotides Nucleic Acids 40 (11), 1075-1089 (2021)
   PUBMED   34486947
  REMARK    GeneRIF: ATP2B1 genotypes rs2070759 and rs2681472 polymorphisms and
            risk of hypertension in Saudi population.
REFERENCE   6  (residues 1 to 1140)
  AUTHORS   Kessler F, Falchetto R, Heim R, Meili R, Vorherr T, Strehler EE and
            Carafoli E.
  TITLE     Study of calmodulin binding to the alternatively spliced C-terminal
            domain of the plasma membrane Ca2+ pump
  JOURNAL   Biochemistry 31 (47), 11785-11792 (1992)
   PUBMED   1332771
REFERENCE   7  (residues 1 to 1140)
  AUTHORS   Wang KK, Wright LC, Machan CL, Allen BG, Conigrave AD and
            Roufogalis BD.
  TITLE     Protein kinase C phosphorylates the carboxyl terminus of the plasma
            membrane Ca(2+)-ATPase from human erythrocytes
  JOURNAL   J Biol Chem 266 (14), 9078-9085 (1991)
   PUBMED   1827443
REFERENCE   8  (residues 1 to 1140)
  AUTHORS   Olson S, Wang MG, Carafoli E, Strehler EE and McBride OW.
  TITLE     Localization of two genes encoding plasma membrane
            Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and
            12q21-23
  JOURNAL   Genomics 9 (4), 629-641 (1991)
   PUBMED   1674727
REFERENCE   9  (residues 1 to 1140)
  AUTHORS   Strehler EE, Strehler-Page MA, Vogel G and Carafoli E.
  TITLE     mRNAs for plasma membrane calcium pump isoforms differing in their
            regulatory domain are generated by alternative splicing that
            involves two internal donor sites in a single exon
  JOURNAL   Proc Natl Acad Sci U S A 86 (18), 6908-6912 (1989)
   PUBMED   2528729
REFERENCE   10 (residues 1 to 1140)
  AUTHORS   James PH, Pruschy M, Vorherr TE, Penniston JT and Carafoli E.
  TITLE     Primary structure of the cAMP-dependent phosphorylation site of the
            plasma membrane calcium pump
  JOURNAL   Biochemistry 28 (10), 4253-4258 (1989)
   PUBMED   2548572
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009522.11, AC068641.18 and
            AC025034.22.
            
            Summary: The protein encoded by this gene belongs to the family of
            P-type primary ion transport ATPases characterized by the formation
            of an aspartyl phosphate intermediate during the reaction cycle.
            These enzymes remove bivalent calcium ions from eukaryotic cells
            against very large concentration gradients and play a critical role
            in intracellular calcium homeostasis. The mammalian plasma membrane
            calcium ATPase isoforms are encoded by at least four separate genes
            and the diversity of these enzymes is further increased by
            alternative splicing of transcripts. The expression of different
            isoforms and splice variants is regulated in a developmental,
            tissue- and cell type-specific manner, suggesting that these pumps
            are functionally adapted to the physiological needs of particular
            cells and tissues. This gene encodes the plasma membrane calcium
            ATPase isoform 1. Alternatively spliced transcript variants
            encoding different isoforms have been identified. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.252185.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1140
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.33"
     Protein         1..1140
                     /product="plasma membrane calcium-transporting ATPase 1
                     isoform 4"
                     /EC_number="7.2.2.10"
                     /note="plasma membrane calcium pump; ATPase, Ca++
                     transporting, plasma membrane 1; plasma membrane
                     calcium-transporting ATPase 1"
                     /calculated_mol_wt=125318
     Region          15..1023
                     /region_name="ATPase-IIB_Ca"
                     /note="plasma-membrane calcium-translocating P-type
                     ATPase; TIGR01517"
                     /db_xref="CDD:273668"
     Region          1067..1106
                     /region_name="ATP_Ca_trans_C"
                     /note="Plasma membrane calcium transporter ATPase C
                     terminal; pfam12424"
                     /db_xref="CDD:432545"
     CDS             1..1140
                     /gene="ATP2B1"
                     /gene_synonym="MRD66; PMCA1; PMCA1kb"
                     /coded_by="NM_001366528.1:370..3792"
                     /note="isoform 4 is encoded by transcript variant 11"
                     /db_xref="GeneID:490"
                     /db_xref="HGNC:HGNC:814"
                     /db_xref="MIM:108731"
ORIGIN      
        1 mgdmannsva ysgvknslke anhdgdfgit laelralmel rstdalrkiq esygdvygic
       61 tklktspneg lsgnpadler reavfgknfi ppkkpktflq lvwealqdvt liileiaaiv
      121 slglsfyqpp egdnalcgev svgeeegege tgwiegaail lsvvcvvlvt afndwskekq
      181 frglqsrieq eqkftvirgg qviqipvadi tvgdiaqvky gdllpadgil iqgndlkide
      241 ssltgesdhv kksldkdpll lsgthvmegs grmvvtavgv nsqtgiiftl lgaggeeeek
      301 kdekkkekkn kkqdgaienr nkakaqdgaa memqplksee ggdgdekdkk kanlpkkeks
      361 vlqgkltkla vqigkagllm saitviilvl yfvidtfwvq krpwlaectp iyiqyfvkff
      421 iigvtvlvva vpeglplavt islaysvkkm mkdnnlvrhl dacetmgnat aicsdktgtl
      481 tmnrmtvvqa yinekhykkv pepeaippni lsylvtgisv ncaytskilp pekegglprh
      541 vgnktecall gllldlkrdy qdvrneipee alykvytfns vrksmstvlk nsdgsyrifs
      601 kgaseiilkk cfkilsange akvfrprdrd divktviepm aseglrticl afrdfpagep
      661 epewdnendi vtgltciavv giedpvrpev pdaikkcqra gitvrmvtgd nintaraiat
      721 kcgilhpged flclegkdfn rrirnekgei eqeridkiwp klrvlarssp tdkhtlvkgi
      781 idstvsdqrq vvavtgdgtn dgpalkkadv gfamgiagtd vakeasdiil tddnftsivk
      841 avmwgrnvyd siskflqfql tvnvvaviva ftgacitqds plkavqmlwv nlimdtlasl
      901 alatepptes lllrkpygrn kplisrtmmk nilghafyql vvvftllfag ekffdidsgr
      961 naplhappse hytivfntfv lmqlfneina rkihgernvf egifnnaifc tivlgtfvvq
     1021 listiptsrl kflkeaghgt qkeeipeeel aedveeidha erelrrgqil wfrglnriqt
     1081 qmdvvnafqs gssiqgalrr qpsiasqhhd vtnistpthv vfssstastt vgyssgecis
//
LOCUS       NP_001341918            1306 aa            linear   PRI 26-MAR-2023
DEFINITION  vascular endothelial growth factor receptor 3 isoform 3 precursor
            [Homo sapiens].
ACCESSION   NP_001341918
VERSION     NP_001341918.1
DBSOURCE    REFSEQ: accession NM_001354989.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1306)
  AUTHORS   Lajmi Y, Loeuillet L, Petrilli G, Egloff C, Nectoux J, Molac C,
            Roux N, Pannier E, Achaiaa A, Arkoub ZA, Chuon S, Coussement A,
            Dupont JM, Malan V, Spaggiari E, Razavi F, Amiel J, Bessieres B,
            Grotto S and Attie-Bitach T.
  TITLE     Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4
            causing prenatal hereditary lymphedema type 1
  JOURNAL   Birth Defects Res 115 (5), 563-571 (2023)
   PUBMED   36538874
  REMARK    GeneRIF: Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in
            FLT4 causing prenatal hereditary lymphedema type 1.
REFERENCE   2  (residues 1 to 1306)
  AUTHORS   Torres-Ruiz S, Tormo E, Garrido-Cano I, Lameirinhas A, Rojo F,
            Madoz-Gurpide J, Burgues O, Hernando C, Bermejo B, Martinez MT,
            Lluch A, Cejalvo JM and Eroles P.
  TITLE     High VEGFR3 Expression Reduces Doxorubicin Efficacy in
            Triple-Negative Breast Cancer
  JOURNAL   Int J Mol Sci 24 (4), 3601 (2023)
   PUBMED   36835014
  REMARK    GeneRIF: High VEGFR3 Expression Reduces Doxorubicin Efficacy in
            Triple-Negative Breast Cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1306)
  AUTHORS   Fournier E, Dubreuil P, Birnbaum D and Borg JP.
  TITLE     Mutation at tyrosine residue 1337 abrogates ligand-dependent
            transforming capacity of the FLT4 receptor
  JOURNAL   Oncogene 11 (5), 921-931 (1995)
   PUBMED   7675451
REFERENCE   4  (residues 1 to 1306)
  AUTHORS   Borg JP, deLapeyriere O, Noguchi T, Rottapel R, Dubreuil P and
            Birnbaum D.
  TITLE     Biochemical characterization of two isoforms of FLT4, a VEGF
            receptor-related tyrosine kinase
  JOURNAL   Oncogene 10 (5), 973-984 (1995)
   PUBMED   7898938
REFERENCE   5  (residues 1 to 1306)
  AUTHORS   Pajusola K, Aprelikova O, Armstrong E, Morris S and Alitalo K.
  TITLE     Two human FLT4 receptor tyrosine kinase isoforms with distinct
            carboxy terminal tails are produced by alternative processing of
            primary transcripts
  JOURNAL   Oncogene 8 (11), 2931-2937 (1993)
   PUBMED   7692369
REFERENCE   6  (residues 1 to 1306)
  AUTHORS   Galland F, Karamysheva A, Pebusque MJ, Borg JP, Rottapel R,
            Dubreuil P, Rosnet O and Birnbaum D.
  TITLE     The FLT4 gene encodes a transmembrane tyrosine kinase related to
            the vascular endothelial growth factor receptor
  JOURNAL   Oncogene 8 (5), 1233-1240 (1993)
   PUBMED   8386825
REFERENCE   7  (residues 1 to 1306)
  AUTHORS   Van Zanten,M., Mansour,S., Ostergaard,P., Mortimer,P. and Gordon,K.
  TITLE     Milroy Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301417
REFERENCE   8  (residues 1 to 1306)
  AUTHORS   Pajusola K, Aprelikova O, Korhonen J, Kaipainen A, Pertovaara L,
            Alitalo R and Alitalo K.
  TITLE     FLT4 receptor tyrosine kinase contains seven immunoglobulin-like
            loops and is expressed in multiple human tissues and cell lines
  JOURNAL   Cancer Res 52 (20), 5738-5743 (1992)
   PUBMED   1327515
  REMARK    Erratum:[Cancer Res 1993 Aug 15;53(16):3845]
REFERENCE   9  (residues 1 to 1306)
  AUTHORS   Galland F, Karamysheva A, Mattei MG, Rosnet O, Marchetto S and
            Birnbaum D.
  TITLE     Chromosomal localization of FLT4, a novel receptor-type tyrosine
            kinase gene
  JOURNAL   Genomics 13 (2), 475-478 (1992)
   PUBMED   1319394
REFERENCE   10 (residues 1 to 1306)
  AUTHORS   Aprelikova O, Pajusola K, Partanen J, Armstrong E, Alitalo R,
            Bailey SK, McMahon J, Wasmuth J, Huebner K and Alitalo K.
  TITLE     FLT4, a novel class III receptor tyrosine kinase in chromosome
            5q33-qter
  JOURNAL   Cancer Res 52 (3), 746-748 (1992)
   PUBMED   1310071
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC122714.2.
            
            Summary: This gene encodes a tyrosine kinase receptor for vascular
            endothelial growth factors C and D. The protein is thought to be
            involved in lymphangiogenesis and maintenance of the lymphatic
            endothelium. Mutations in this gene cause hereditary lymphedema
            type IA. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) contains an alternate 3'
            terminal exon compared to variant 1. This results in an isoform (3)
            with a shorter C-terminus compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK309910.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1306
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     Protein         1..1306
                     /product="vascular endothelial growth factor receptor 3
                     isoform 3 precursor"
                     /EC_number="2.7.10.1"
                     /note="vascular endothelial growth factor receptor 3; VEGF
                     receptor-3; Feline McDonough Sarcoma (FMS)-like tyrosine
                     kinase 4; fms related tyrosine kinase 4; primary
                     congenital lymphedema; fms-like tyrosine kinase 4;
                     tyrosine-protein kinase receptor FLT4"
                     /calculated_mol_wt=143914
     sig_peptide     1..24
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2559
     Site            33
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:23878260,
                     ECO:0007744|PDB:4BSK; propagated from UniProtKB/Swiss-Prot
                     (P35916.3)"
     Site            104
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:23878260,
                     ECO:0007744|PDB:4BSK; propagated from UniProtKB/Swiss-Prot
                     (P35916.3)"
     Region          137..220
                     /region_name="Ig_2"
                     /note="Immunoglobulin domain; pfam13895"
                     /db_xref="CDD:433563"
     Site            166
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     Region          230..329
                     /region_name="IgI_VEGFR"
                     /note="Immunoglobulin (Ig)-like domain of vascular
                     endothelial growth factor (VEGF) receptor(R); member of
                     the I-set of IgSF domains; cd05862"
                     /db_xref="CDD:409448"
     Region          230..234
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409448"
     Region          240..244
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409448"
     Region          246..255
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409448"
     Site            251
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     Region          262..267
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409448"
     Region          270..272
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409448"
     Region          276..284
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409448"
     Region          289..297
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409448"
     Site            299
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     Region          307..313
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409448"
     Region          318..324
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409448"
     Region          331..418
                     /region_name="IgI_VEGFR-3"
                     /note="Immunoglobulin (Ig)-like domain of vascular
                     endothelial growth factor receptor 3 (VEGFR-3); member of
                     the I-set of Ig superfamily (IgSF) domains; cd05863"
                     /db_xref="CDD:409449"
     Region          332..337
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409449"
     Region          342..347
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409449"
     Region          349..360
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409449"
     Region          364..370
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409449"
     Region          372..375
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409449"
     Region          378..380
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409449"
     Region          382..387
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409449"
     Region          395..403
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409449"
     Region          409..418
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409449"
     Site            411
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:23878260,
                     ECO:0007744|PDB:4BSK; propagated from UniProtKB/Swiss-Prot
                     (P35916.3)"
     Site            515
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:23878260,
                     ECO:0007744|PDB:4BSK; propagated from UniProtKB/Swiss-Prot
                     (P35916.3)"
     Site            527
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     Region          559..655
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Site            594
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     Region          678..765
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            683
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     Site            690
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     Region          695..699
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          708..712
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          731..735
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          745..750
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            758
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     Region          770..804
                     /region_name="VEGFR-2_TMD"
                     /note="VEGFR-2 Transmembrane domain; pfam17988"
                     /db_xref="CDD:375470"
     Site            776..796
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35916.3)"
     Site            830
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by SRC.
                     /evidence=ECO:0000269|PubMed:20431062; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     Site            833
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by SRC.
                     /evidence=ECO:0000269|PubMed:20431062; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     Region          837..1176
                     /region_name="PTKc_VEGFR3"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Vascular Endothelial Growth Factor Receptor 3; cd05102"
                     /db_xref="CDD:270680"
     Site            order(851..855,859,877..879,896,925,927..931,933..934,
                     1028,1035,1037,1041..1042,1044,1054..1056,1073..1077,1086,
                     1121)
                     /site_type="active"
                     /db_xref="CDD:270680"
     Site            order(851..853,859,877..879,896,925,927..931,933..934,
                     1028,1035,1044,1054..1056)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270680"
     Site            853
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by SRC.
                     /evidence=ECO:0000269|PubMed:20431062; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     Site            order(1037,1041,1073..1077,1086,1121)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270680"
     Site            1054..1079
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270680"
     Site            1063
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis and SRC.
                     /evidence=ECO:0000269|PubMed:16076871,
                     ECO:0000269|PubMed:20431062; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     Site            1068
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:16076871,
                     ECO:0000269|PubMed:20431062; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     Site            1230
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:12881528,
                     ECO:0000269|PubMed:16076871; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     Site            1231
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:12881528,
                     ECO:0000269|PubMed:16076871; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     Site            1265
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:12881528; propagated from
                     UniProtKB/Swiss-Prot (P35916.3)"
     CDS             1..1306
                     /gene="FLT4"
                     /gene_synonym="CHTD7; FLT-4; FLT41; LMPH1A; LMPHM1; PCL;
                     VEGFR-3; VEGFR3"
                     /coded_by="NM_001354989.2:56..3976"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS87360.1"
                     /db_xref="GeneID:2324"
                     /db_xref="HGNC:HGNC:3767"
                     /db_xref="MIM:136352"
ORIGIN      
        1 mqrgaalclr lwlclglldg lvsgysmtpp tlniteeshv idtgdslsis crgqhplewa
       61 wpgaqeapat gdkdsedtgv vrdcegtdar pyckvlllhe vhandtgsyv cyykyikari
      121 egttaassyv fvrdfeqpfi nkpdtllvnr kdamwvpclv sipglnvtlr sqssvlwpdg
      181 qevvwddrrg mlvstpllhd alylqcettw gdqdflsnpf lvhitgnely diqllprksl
      241 ellvgeklvl nctvwaefns gvtfdwdypg kqaergkwvp errsqqthte lssiltihnv
      301 sqhdlgsyvc kanngiqrfr estevivhen pfisvewlkg pileatagde lvklpvklaa
      361 ypppefqwyk dgkalsgrhs phalvlkevt eastgtytla lwnsaaglrr nislelvvnv
      421 ppqihekeas spsiysrhsr qaltctaygv plplsiqwhw rpwtpckmfa qrslrrrqqq
      481 dlmpqcrdwr avttqdavnp iesldtwtef vegknktvsk lviqnanvsa mykcvvsnkv
      541 gqderliyfy vttipdgfti eskpseelle gqpvllscqa dsykyehlrw yrlnlstlhd
      601 ahgnpllldc knvhlfatpl aasleevapg arhatlslsi prvapehegh yvcevqdrrs
      661 hdkhchkkyl svqaleaprl tqnltdllvn vsdslemqcl vagahapsiv wykderllee
      721 ksgvdladsn qklsiqrvre edagrylcsv cnakgcvnss asvavegsed kgsmeivilv
      781 gtgviavffw vllllifcnm rrpahadikt gylsiimdpg evpleeqcey lsydasqwef
      841 prerlhlgrv lgygafgkvv easafgihkg sscdtvavkm lkegataseh ralmselkil
      901 ihignhlnvv nllgactkpq gplmvivefc kygnlsnflr akrdafspca ekspeqrgrf
      961 ramvelarld rrrpgssdrv lfarfskteg garraspdqe aedlwlsplt medlvcysfq
     1021 vargmeflas rkcihrdlaa rnillsesdv vkicdfglar diykdpdyvr kgsarlplkw
     1081 mapesifdkv yttqsdvwsf gvllweifsl gaspypgvqi neefcqrlrd gtrmrapela
     1141 tpairrimln cwsgdpkarp afselveilg dllqgrglqe eeevcmaprs sqsseegsfs
     1201 qvstmalhia qadaedspps lqrhslaary ynwvsfpgcl argaetrgss rmktfeefpm
     1261 tpttykgsvd nqtdsgmvla seefeqiesr hrqesgfrgt rrtrga
//
LOCUS       NP_001349996             303 aa            linear   PRI 03-APR-2023
DEFINITION  claudin-5 isoform 1 [Homo sapiens].
ACCESSION   NP_001349996 XP_016884418
VERSION     NP_001349996.1
DBSOURCE    REFSEQ: accession NM_001363067.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 303)
  AUTHORS   Hashimoto Y, Greene C, Munnich A and Campbell M.
  TITLE     The CLDN5 gene at the blood-brain barrier in health and disease
  JOURNAL   Fluids Barriers CNS 20 (1), 22 (2023)
   PUBMED   36978081
  REMARK    GeneRIF: The CLDN5 gene at the blood-brain barrier in health and
            disease.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 303)
  AUTHORS   Gal Z, Torok D, Gonda X, Eszlari N, Anderson IM, Deakin B, Juhasz
            G, Bagdy G and Petschner P.
  TITLE     Inflammation and Blood-Brain Barrier in Depression: Interaction of
            CLDN5 and IL6 Gene Variants in Stress-Induced Depression
  JOURNAL   Int J Neuropsychopharmacol 26 (3), 189-197 (2023)
   PUBMED   36472886
  REMARK    GeneRIF: Inflammation and Blood-Brain Barrier in Depression:
            Interaction of CLDN5 and IL6 Gene Variants in Stress-Induced
            Depression.
REFERENCE   3  (residues 1 to 303)
  AUTHORS   Hochman E, Taler M, Flug R, Gur S, Dar S, Bormant G, Blattberg D,
            Nitzan U, Krivoy A and Weizman A.
  TITLE     Serum claudin-5 levels among patients with unipolar and bipolar
            depression in relation to the pro-inflammatory cytokine tumor
            necrosis factor-alpha levels
  JOURNAL   Brain Behav Immun 109, 162-167 (2023)
   PUBMED   36706845
  REMARK    GeneRIF: Serum claudin-5 levels among patients with unipolar and
            bipolar depression in relation to the pro-inflammatory cytokine
            tumor necrosis factor-alpha levels.
REFERENCE   4  (residues 1 to 303)
  AUTHORS   Rajagopal N and Nangia S.
  TITLE     Unique structural features of claudin-5 and claudin-15 lead to
            functionally distinct tight junction strand architecture
  JOURNAL   Ann N Y Acad Sci 1517 (1), 225-233 (2022)
   PUBMED   36114674
  REMARK    GeneRIF: Unique structural features of claudin-5 and claudin-15
            lead to functionally distinct tight junction strand architecture.
REFERENCE   5  (residues 1 to 303)
  AUTHORS   Hashimoto R, Takahashi J, Shirakura K, Funatsu R, Kosugi K, Deguchi
            S, Yamamoto M, Tsunoda Y, Morita M, Muraoka K, Tanaka M, Kanbara T,
            Tanaka S, Tamiya S, Tokunoh N, Kawai A, Ikawa M, Ono C, Tachibana
            K, Kondoh M, Obana M, Matsuura Y, Ohsumi A, Noda T, Yamamoto T,
            Yoshioka Y, Torisawa YS, Date H, Fujio Y, Nagao M, Takayama K and
            Okada Y.
  TITLE     SARS-CoV-2 disrupts respiratory vascular barriers by suppressing
            Claudin-5 expression
  JOURNAL   Sci Adv 8 (38), eabo6783 (2022)
   PUBMED   36129989
  REMARK    GeneRIF: SARS-CoV-2 disrupts respiratory vascular barriers by
            suppressing Claudin-5 expression.
REFERENCE   6  (residues 1 to 303)
  AUTHORS   Kniesel U and Wolburg H.
  TITLE     Tight junctions of the blood-brain barrier
  JOURNAL   Cell Mol Neurobiol 20 (1), 57-76 (2000)
   PUBMED   10690502
  REMARK    Review article
REFERENCE   7  (residues 1 to 303)
  AUTHORS   Itoh M, Furuse M, Morita K, Kubota K, Saitou M and Tsukita S.
  TITLE     Direct binding of three tight junction-associated MAGUKs, ZO-1,
            ZO-2, and ZO-3, with the COOH termini of claudins
  JOURNAL   J Cell Biol 147 (6), 1351-1363 (1999)
   PUBMED   10601346
REFERENCE   8  (residues 1 to 303)
  AUTHORS   Morita K, Furuse M, Fujimoto K and Tsukita S.
  TITLE     Claudin multigene family encoding four-transmembrane domain protein
            components of tight junction strands
  JOURNAL   Proc Natl Acad Sci U S A 96 (2), 511-516 (1999)
   PUBMED   9892664
REFERENCE   9  (residues 1 to 303)
  AUTHORS   Peacock RE, Keen TJ and Inglehearn CF.
  TITLE     Analysis of a human gene homologous to rat ventral prostate.1
            protein
  JOURNAL   Genomics 46 (3), 443-449 (1997)
   PUBMED   9441748
REFERENCE   10 (residues 1 to 303)
  AUTHORS   Sirotkin H, Morrow B, Saint-Jore B, Puech A, Das Gupta R, Patanjali
            SR, Skoultchi A, Weissman SM and Kucherlapati R.
  TITLE     Identification, characterization, and precise mapping of a human
            gene encoding a novel membrane-spanning protein from the 22q11
            region deleted in velo-cardio-facial syndrome
  JOURNAL   Genomics 42 (2), 245-251 (1997)
   PUBMED   9192844
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC000082.4.
            On May 5, 2018 this sequence version replaced XP_016884418.1.
            
            Summary: This gene encodes a member of the claudin family. Claudins
            are integral membrane proteins and components of tight junction
            strands. Tight junction strands serve as a physical barrier to
            prevent solutes and water from passing freely through the
            paracellular space between epithelial or endothelial cell sheets.
            Mutations in this gene have been found in patients with
            velocardiofacial syndrome. Alternative splicing results in multiple
            transcript variants encoding distinct isoforms. [provided by
            RefSeq, May 2018].
            
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1, and encodes a protein (isoform 1) of 303 aa.
            A common SNP (rs885985) encodes a stop codon in the 5' coding
            region and thus, for some haplotypes, translation is predicted to
            initiate from a downstream AUG to produce a protein of 218 aa
            (isoform 2).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.184127.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..303
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     Protein         1..303
                     /product="claudin-5 isoform 1"
                     /note="transmembrane protein deleted in velocardiofacial
                     syndrome; transmembrane protein deleted in VCFS"
                     /calculated_mol_wt=31495
     Region          90..266
                     /region_name="PMP22_Claudin"
                     /note="PMP-22/EMP/MP20/Claudin family; cl21598"
                     /db_xref="CDD:451326"
     CDS             1..303
                     /gene="CLDN5"
                     /gene_synonym="AWAL; BEC1; CPETRL1; TMDVCF; TMVCF"
                     /coded_by="NM_001363067.2:317..1228"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS13763.2"
                     /db_xref="GeneID:7122"
                     /db_xref="HGNC:HGNC:2047"
                     /db_xref="MIM:602101"
ORIGIN      
        1 mtrarigcfg pggrargtes apepskrvpp grswqtqevr qtrganglgp ragsagakap
       61 gpaqgaaqhg lggsaglrvr vsplamgsaa leilglvlcl vgwgglilac glpmwqvtaf
      121 ldhnivtaqt twkglwmscv vqstghmqck vydsvlalst evqaaraltv savllafval
      181 fvtlagaqct tcvapgpaka rvaltggvly lfcgllalvp lcwfanivvr efydpsvpvs
      241 qkyelgaaly igwaatallm vggcllccga wvctgrpdls fpvkysaprr ptatgdydkk
      301 nyv
//
LOCUS       NP_783316                 61 aa            linear   PRI 15-MAR-2023
DEFINITION  metallothionein-1E isoform 2 [Homo sapiens].
ACCESSION   NP_783316
VERSION     NP_783316.2
DBSOURCE    REFSEQ: accession NM_175617.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 61)
  AUTHORS   Liu Q, Lu F and Chen Z.
  TITLE     Identification of MT1E as a novel tumor suppressor in
            hepatocellular carcinoma
  JOURNAL   Pathol Res Pract 216 (11), 153213 (2020)
   PUBMED   32956919
  REMARK    GeneRIF: Identification of MT1E as a novel tumor suppressor in
            hepatocellular carcinoma.
REFERENCE   2  (residues 1 to 61)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 61)
  AUTHORS   Maleckaite R, Zalimas A, Bakavicius A, Jankevicius F, Jarmalaite S
            and Daniunaite K.
  TITLE     DNA methylation of metallothionein genes is associated with the
            clinical features of renal cell carcinoma
  JOURNAL   Oncol Rep 41 (6), 3535-3544 (2019)
   PUBMED   31002354
  REMARK    GeneRIF: In clear cell renal cell carcinoma (RCC) MT1E, MT1G and
            MT1M expression was higher than that noted in other histological
            tumor subtypes (all P<0.0500). In addition, some associations were
            observed between metabolic syndromerelated clinical parameters and
            promoter methylation or gene expression
REFERENCE   4  (residues 1 to 61)
  AUTHORS   Masiulionyte B, Valiulyte I, Tamasauskas A and Skiriute D.
  TITLE     Metallothionein Genes are Highly Expressed in Malignant
            Astrocytomas and Associated with Patient Survival
  JOURNAL   Sci Rep 9 (1), 5406 (2019)
   PUBMED   30932010
  REMARK    GeneRIF: Metallothionein Genes are Highly Expressed in Malignant
            Astrocytomas and Associated with Patient Survival.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 61)
  AUTHORS   Guo M, Zhang T, Dong X, Xiang JZ, Lei M, Evans T, Graumann J and
            Chen S.
  TITLE     Using hESCs to Probe the Interaction of the Diabetes-Associated
            Genes CDKAL1 and MT1E
  JOURNAL   Cell Rep 19 (8), 1512-1521 (2017)
   PUBMED   28538172
  REMARK    GeneRIF: Forced MT1E expression rescues both hypersensitivity of
            CDKAL1 mutant cells to glycolipotoxicity and pancreatic beta-cell
            dysfunction in vitro and in vivo.
REFERENCE   6  (residues 1 to 61)
  AUTHORS   West AK, Stallings R, Hildebrand CE, Chiu R, Karin M and Richards
            RI.
  TITLE     Human metallothionein genes: structure of the functional locus at
            16q13
  JOURNAL   Genomics 8 (3), 513-518 (1990)
   PUBMED   2286373
REFERENCE   7  (residues 1 to 61)
  AUTHORS   Schmidt,C.J., Jubier,M.F. and Hamer,D.H.
  TITLE     Structure and expression of two human metallothionein-I isoform
            genes and a related pseudogene
  JOURNAL   J Biol Chem 260 (12), 7731-7737 (1985)
   PUBMED   2581970
REFERENCE   8  (residues 1 to 61)
  AUTHORS   Le Beau,M.M., Diaz,M.O., Karin,M. and Rowley,J.D.
  TITLE     Metallothionein gene cluster is split by chromosome 16
            rearrangements in myelomonocytic leukaemia
  JOURNAL   Nature 313 (6004), 709-711 (1985)
   PUBMED   3856101
REFERENCE   9  (residues 1 to 61)
  AUTHORS   Carter,A.D., Felber,B.K., Walling,M.J., Jubier,M.F., Schmidt,C.J.
            and Hamer,D.H.
  TITLE     Duplicated heavy metal control sequences of the mouse
            metallothionein-I gene
  JOURNAL   Proc Natl Acad Sci U S A 81 (23), 7392-7396 (1984)
   PUBMED   6095291
REFERENCE   10 (residues 1 to 61)
  AUTHORS   Karin,M., Eddy,R.L., Henry,W.M., Haley,L.L., Byers,M.G. and
            Shows,T.B.
  TITLE     Human metallothionein genes are clustered on chromosome 16
  JOURNAL   Proc Natl Acad Sci U S A 81 (17), 5494-5498 (1984)
   PUBMED   6089206
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC009699.2.
            On Dec 8, 2005 this sequence version replaced NP_783316.1.
            
            Transcript Variant: This variant (2) uses alternate splice sites in
            the 3' coding region compared to variant 1, resulting in a
            frameshift. It encodes isoform 2, which is shorter and has a
            distinct C-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CB152797.1, CB124847.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..61
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q13"
     Protein         1..61
                     /product="metallothionein-1E isoform 2"
                     /note="metallothionein 1E (functional); metallothionein D;
                     metallothionein-IE"
                     /calculated_mol_wt=5883
     Region          1..29
                     /region_name="Beta"
                     /note="propagated from UniProtKB/Swiss-Prot (P04732.1)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000269|PubMed:1779803; propagated from
                     UniProtKB/Swiss-Prot (P04732.1)"
     Region          4..61
                     /region_name="Metallothio"
                     /note="Metallothionein; pfam00131"
                     /db_xref="CDD:395080"
     Region          30..61
                     /region_name="Alpha"
                     /note="propagated from UniProtKB/Swiss-Prot (P04732.1)"
     CDS             1..61
                     /gene="MT1E"
                     /gene_synonym="MT-1E; MT-IE; MT1; MTD"
                     /coded_by="NM_175617.4:72..257"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS10764.2"
                     /db_xref="GeneID:4493"
                     /db_xref="HGNC:HGNC:7397"
                     /db_xref="MIM:156351"
ORIGIN      
        1 mdpncscatg gsctcagsck ckeckctsck ksccsccpvg cakcaqgcvc kgasekcscc
       61 a
//
LOCUS       NP_001247406             266 aa            linear   PRI 19-MAR-2023
DEFINITION  tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4
            isoform 3 [Homo sapiens].
ACCESSION   NP_001247406
VERSION     NP_001247406.1
DBSOURCE    REFSEQ: accession NM_001260477.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 266)
  AUTHORS   Zhu J, Liu X, Chen W, Liao Y, Liu J, Yuan L, Ruan J and He J.
  TITLE     Association of RNA m7G Modification Gene Polymorphisms with
            Pediatric Glioma Risk
  JOURNAL   Biomed Res Int 2023, 3678327 (2023)
   PUBMED   36733406
  REMARK    GeneRIF: Association of RNA m[7]G Modification Gene Polymorphisms
            with Pediatric Glioma Risk.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 266)
  AUTHORS   Wu PR, Chiang SY, Midence R, Kao WC, Lai CL, Cheng IC, Chou SJ,
            Chen CC, Huang CY and Chen RH.
  TITLE     Wdr4 promotes cerebellar development and locomotion through
            Arhgap17-mediated Rac1 activation
  JOURNAL   Cell Death Dis 14 (1), 52 (2023)
   PUBMED   36681682
  REMARK    GeneRIF: Wdr4 promotes cerebellar development and locomotion
            through Arhgap17-mediated Rac1 activation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 266)
  AUTHORS   Li J, Wang L, Hahn Q, Nowak RP, Viennet T, Orellana EA, Roy Burman
            SS, Yue H, Hunkeler M, Fontana P, Wu H, Arthanari H, Fischer ES and
            Gregory RI.
  TITLE     Structural basis of regulated m7G tRNA modification by METTL1-WDR4
  JOURNAL   Nature 613 (7943), 391-397 (2023)
   PUBMED   36599985
  REMARK    GeneRIF: Structural basis of regulated m[7]G tRNA modification by
            METTL1-WDR4.
REFERENCE   4  (residues 1 to 266)
  AUTHORS   Ruiz-Arroyo VM, Raj R, Babu K, Onolbaatar O, Roberts PH and Nam Y.
  TITLE     Structures and mechanisms of tRNA methylation by METTL1-WDR4
  JOURNAL   Nature 613 (7943), 383-390 (2023)
   PUBMED   36599982
  REMARK    GeneRIF: Structures and mechanisms of tRNA methylation by
            METTL1-WDR4.
REFERENCE   5  (residues 1 to 266)
  AUTHORS   Ma J, Han H, Huang Y, Yang C, Zheng S, Cai T, Bi J, Huang X, Liu R,
            Huang L, Luo Y, Li W and Lin S.
  TITLE     METTL1/WDR4-mediated m7G tRNA modifications and m7G codon usage
            promote mRNA translation and lung cancer progression
  JOURNAL   Mol Ther 29 (12), 3422-3435 (2021)
   PUBMED   34371184
  REMARK    GeneRIF: METTL1/WDR4-mediated m(7)G tRNA modifications and m(7)G
            codon usage promote mRNA translation and lung cancer progression.
REFERENCE   6  (residues 1 to 266)
  AUTHORS   Cornelis MC, Fornage M, Foy M, Xun P, Gladyshev VN, Morris S,
            Chasman DI, Hu FB, Rimm EB, Kraft P, Jordan JM, Mozaffarian D and
            He K.
  TITLE     Genome-wide association study of selenium concentrations
  JOURNAL   Hum Mol Genet 24 (5), 1469-1477 (2015)
   PUBMED   25343990
REFERENCE   7  (residues 1 to 266)
  AUTHORS   Hu YH, Warnatz HJ, Vanhecke D, Wagner F, Fiebitz A, Thamm S, Kahlem
            P, Lehrach H, Yaspo ML and Janitz M.
  TITLE     Cell array-based intracellular localization screening reveals novel
            functional features of human chromosome 21 proteins
  JOURNAL   BMC Genomics 7, 155 (2006)
   PUBMED   16780588
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 266)
  AUTHORS   Cartlidge RA, Knebel A, Peggie M, Alexandrov A, Phizicky EM and
            Cohen P.
  TITLE     The tRNA methylase METTL1 is phosphorylated and inactivated by PKB
            and RSK in vitro and in cells
  JOURNAL   EMBO J 24 (9), 1696-1705 (2005)
   PUBMED   15861136
REFERENCE   9  (residues 1 to 266)
  AUTHORS   Alexandrov A, Martzen MR and Phizicky EM.
  TITLE     Two proteins that form a complex are required for 7-methylguanosine
            modification of yeast tRNA
  JOURNAL   RNA 8 (10), 1253-1266 (2002)
   PUBMED   12403464
REFERENCE   10 (residues 1 to 266)
  AUTHORS   Michaud J, Kudoh J, Berry A, Bonne-Tamir B, Lalioti MD, Rossier C,
            Shibuya K, Kawasaki K, Asakawa S, Minoshima S, Shimizu N,
            Antonarakis SE and Scott HS.
  TITLE     Isolation and characterization of a human chromosome 21q22.3 gene
            (WDR4) and its mouse homologue that code for a WD-repeat protein
  JOURNAL   Genomics 68 (1), 71-79 (2000)
   PUBMED   10950928
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001629.1 and AP001628.1.
            
            Summary: This gene encodes a member of the WD repeat protein
            family. WD repeats are minimally conserved regions of approximately
            40 amino acids typically bracketed by gly-his and trp-asp (GH-WD),
            which may facilitate formation of heterotrimeric or multiprotein
            complexes. Members of this family are involved in a variety of
            cellular processes, including cell cycle progression, signal
            transduction, apoptosis, and gene regulation. This gene is excluded
            as a candidate for a form of nonsyndromic deafness (DFNB10), but is
            still a candidate for other disorders mapped to 21q22.3 as well as
            for the development of Down syndrome phenotypes. Alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (6) contains an alternate 5'
            terminal exon and uses an alternate donor splice site at an exon in
            the 5' region compared to variant 1, resulting in translation
            initiation from an in-frame downstream AUG and an isoform (3) with
            a shorter N-terminus compared to isoform 1. Variants 4-6 encode the
            same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056343.1, SRR14038194.2961258.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..266
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..266
                     /product="tRNA (guanine-N(7)-)-methyltransferase
                     non-catalytic subunit WDR4 isoform 3"
                     /note="WD repeat-containing protein 4; tRNA
                     (guanine-N(7)-)-methyltransferase subunit WDR4; TRM82 tRNA
                     methyltransferase 82 homolog; tRNA
                     (guanine-N(7)-)-methyltransferase non-catalytic subunit
                     WDR4; protein Wuho homolog"
                     /calculated_mol_wt=29815
     Region          3..38
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <4..154
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          45..90
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          100..141
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..266
                     /gene="WDR4"
                     /gene_synonym="GAMOS6; hWH; MIGSB; TRM82; TRMT82; Wuho"
                     /coded_by="NM_001260477.2:846..1646"
                     /note="isoform 3 is encoded by transcript variant 6"
                     /db_xref="GeneID:10785"
                     /db_xref="HGNC:HGNC:12756"
                     /db_xref="MIM:605924"
ORIGIN      
        1 mlldvavspd drfiltadrd ekirvswaaa phsiesfclg htefvsrisv vptqpgllls
       61 ssgdgtlrlw eyrsgrqlhc chlaslqelv dpqapqkfaa sriafwcqen cvallcdgtp
      121 vvyifqldar rqqlvyrqql afqhqvwdva feetqglwvl qdcqeaplvl yrpvgdqwqs
      181 vpestvlkkv sgvlrgnwam legsagadas fsslykatfd nvtsylkkke erlqqqlekk
      241 qrrrspppgp dghakkmrpg eatlsc
//
LOCUS       XP_006720611             528 aa            linear   PRI 20-MAR-2023
DEFINITION  NT-3 growth factor receptor isoform X10 [Homo sapiens].
ACCESSION   XP_006720611
VERSION     XP_006720611.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006720548.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..528
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..528
                     /product="NT-3 growth factor receptor isoform X10"
                     /calculated_mol_wt=58637
     Region          31..>51
                     /region_name="LRRNT"
                     /note="Leucine rich repeat N-terminal domain; pfam01462"
                     /db_xref="CDD:396168"
     Region          103..160
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          105..128
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          129..151
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          152..164
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          163..208
                     /region_name="TPKR_C2"
                     /note="Tyrosine-protein kinase receptor C2 Ig-like domain;
                     pfam16920"
                     /db_xref="CDD:435654"
     Region          214..299
                     /region_name="ig"
                     /note="Immunoglobulin domain; pfam00047"
                     /db_xref="CDD:395002"
     Region          227..231
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          240..244
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          266..270
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          281..286
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          294..297
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          304..396
                     /region_name="IgI_TrKABC_d5"
                     /note="Fifth domain (immunoglobulin-like) of Trk receptors
                     TrkA, TrkB, and TrkC; member of the I-set of Ig
                     superfamily (IgSF) domains; cd04971"
                     /db_xref="CDD:409360"
     Region          305..311
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409360"
     Region          313..316
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409360"
     Region          319..327
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409360"
     Site            328
                     /site_type="other"
                     /note="interdomain interface [polypeptide binding]"
                     /db_xref="CDD:409360"
     Region          330..337
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409360"
     Region          340..343
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409360"
     Region          348..354
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409360"
     Site            order(353,366..367,370)
                     /site_type="other"
                     /note="receptor binding site [polypeptide binding]"
                     /db_xref="CDD:409360"
     Region          358..366
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409360"
     Region          374..382
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409360"
     Region          385..393
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409360"
     CDS             1..528
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /coded_by="XM_006720548.5:430..2016"
                     /db_xref="GeneID:4916"
                     /db_xref="HGNC:HGNC:8033"
                     /db_xref="MIM:191316"
ORIGIN      
        1 mdvslcpakc sfwrifllgs vwldyvgsvl acpancvcsk teincrrpdd gnlfpllegq
       61 dsgnsngnas initdisrni tsihienwrs lhtlnavdme lytglqklti knsglrsiqp
      121 rafaknphlr yinlssnrlt tlswqlfqtl slrelqleqn ffncscdirw mqlwqeqgea
      181 klnsqnlyci nadgsqlplf rmnisqcdlp eisvshvnlt vregdnavit cngsgsplpd
      241 vdwivtglqs inthqtnlnw tnvhainltl vnvtsedngf tltciaenvv gmsnasvalt
      301 vyypprvvsl eepelrlehc iefvvrgnpp ptlhwlhngq plreskiihv eyyqegeise
      361 gcllfnkpth ynngnytlia knplgtanqt inghflkepf pestdnfilf devsptppit
      421 vthkpeedtf gvsiavglaa facvllvvlf vminkygrrs kfgmkgpvav isgeedsasp
      481 lhhinhgitt pssldagpdt vvigmtripv ienpqyfrqg hnchkpdt
//
LOCUS       XP_047294324             430 aa            linear   PRI 20-MAR-2023
DEFINITION  single-stranded DNA-binding protein 4 isoform X6 [Homo sapiens].
ACCESSION   XP_047294324
VERSION     XP_047294324.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438368.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..430
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..430
                     /product="single-stranded DNA-binding protein 4 isoform
                     X6"
                     /calculated_mol_wt=44174
     Region          12..39
                     /region_name="LisH"
                     /note="Lissencephaly type-1-like homology motif;
                     smart00667"
                     /db_xref="CDD:128913"
     Region          77..355
                     /region_name="SSDP"
                     /note="Single-stranded DNA binding protein, SSDP;
                     pfam04503"
                     /db_xref="CDD:427984"
     CDS             1..430
                     /gene="SSBP4"
                     /coded_by="XM_047438368.1:16..1308"
                     /db_xref="GeneID:170463"
                     /db_xref="HGNC:HGNC:15676"
                     /db_xref="MIM:607391"
ORIGIN      
        1 mhcrkpqgpl lwkvrlalyv yeyllhigaq ksaqtflsei rweknitlge ppgflhswwc
       61 vfwdlycaap drreacehsg eakafqdysa aaapspvmgs mapgdtmaag smaagffqgp
      121 pgsqpsphnp napmmgphgq pfmsprfpgg prptlrmpsq ppaglpgsqp llpgamepsp
      181 raqghpsmgg pmqrvtpprg masvgpqsyg ggmrpppnsl agpglpamnm gpgvrgpwas
      241 psgnsipyss sspgsytgpp ggggppgtpi mpspgdstns senmytimnp igqgagranf
      301 plgpgpegpm aamsamephh vngslgsgdm dglpksspga vaglsnapgt prddgemaaa
      361 gtflhpfpse svsdcvdspp aaasgrrgwr agpggaaggp eqdrdrggpv larddhervm
      421 grqpraslra
//
LOCUS       XP_005247748             474 aa            linear   PRI 20-MAR-2023
DEFINITION  sentrin-specific protease 2 isoform X2 [Homo sapiens].
ACCESSION   XP_005247748
VERSION     XP_005247748.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005247691.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..474
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..474
                     /product="sentrin-specific protease 2 isoform X2"
                     /calculated_mol_wt=54860
     Region          <269..474
                     /region_name="ULP1"
                     /note="Protease, Ulp1 family [Posttranslational
                     modification, protein turnover, chaperones]; COG5160"
                     /db_xref="CDD:227489"
     CDS             1..474
                     /gene="SENP2"
                     /gene_synonym="AXAM2; SMT3IP2"
                     /coded_by="XM_005247691.4:94..1518"
                     /db_xref="GeneID:59343"
                     /db_xref="HGNC:HGNC:23116"
                     /db_xref="MIM:608261"
ORIGIN      
        1 mlklgnkspn gisdypkirv tvtrdqprrv lpsfgftlns egcnrrpggr rhskgnpess
       61 lmwkpqeqav temiseesgk glrrphctve egvqkeerek yrkllerlke sghgnsvcpv
      121 tsnyhssqrs qmdtlktkgw geeqnhgvkt tqfvpkqyrl vetrgplcsl rsekrcskgk
      181 itdtetmvgi rfenesrrgy qlepdlseev sarlrlgsgs ngllrrkvsi ietkekncsg
      241 kerdrrtddl leltedmeke isnalghgpq deilssafkl ritrgdiqtl knyhwlndev
      301 infymnllve rnkkqgypal hvfstffypk lksggyqavk rwtkgvnlfe qeiilvpihr
      361 kvhwslvvid lrkkclkyld smgqkghric eillqylqde sktkrnsdln llewthhsmk
      421 pheipqqlng sdcgmftcky adyisrdkpi tftqhqmplf rkkmvweilh qqll
//
LOCUS       XP_047304903             514 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box-like/WD repeat-containing protein TBL1XR1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047304903
VERSION     XP_047304903.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448947.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..514
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..514
                     /product="F-box-like/WD repeat-containing protein TBL1XR1
                     isoform X4"
                     /calculated_mol_wt=55464
     Region          7..31
                     /region_name="LisH"
                     /note="pfam08513"
                     /db_xref="CDD:369916"
     Region          164..470
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cd00200"
                     /db_xref="CDD:238121"
     Site            order(168,186,190,196..197,215..216,242,246,252,264..265,
                     282,287,293..294,307,323,328,334..335,347..348,366,370,
                     376..377,389..390,416,421,427..428,440..441,459,463,
                     469..470)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          172..215
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          228..264
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          270..306
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          311..346
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          353..388
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          394..439
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          445..483
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          486..509
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..514
                     /gene="TBL1XR1"
                     /gene_synonym="C21; DC42; IRA1; MRD41; TBLR1"
                     /coded_by="XM_047448947.1:128..1672"
                     /db_xref="GeneID:79718"
                     /db_xref="HGNC:HGNC:29529"
                     /db_xref="MIM:608628"
ORIGIN      
        1 msissdevnf lvyrylqesg fshsaftfgi eshisqsnin galvppaali siiqkglqyv
       61 eaevsinedg tlfdgrpies lslidavmpd vvqtrqqayr dklaqqqaaa aaaaaaaasq
      121 qgsakngent angeengaht iannhtdmme vdgdveippn kavvlrghes evficawnpv
      181 sdllasgsgd stariwnlse nstsgstqlv lrhcireggq dvpsnkdvts ldwnsegtll
      241 atgsydgfar iwtkdgnlas tlgqhkgpif alkwnkkgnf ilsagvdktt iiwdahtgea
      301 kqqfpfhsap aldvdwqsnn tfascstdmc ihvcklgqdr piktfqghtn evnaikwdpt
      361 gnllascsdd mtlkiwsmkq dncvhdlqah nkeiytikws ptgpgtnnpn anlmlasasf
      421 dstvrlwdvd rgicihtltk hqepvysvaf spdgrylasg sfdkcvhiwn tqtgalvhsy
      481 rgtggifevc wnaagdkvga sasdgsvcvl dlrk
//
LOCUS       XP_047273093             157 aa            linear   PRI 20-MAR-2023
DEFINITION  Rieske domain-containing protein isoform X2 [Homo sapiens].
ACCESSION   XP_047273093
VERSION     XP_047273093.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417137.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 40% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..157
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..157
                     /product="Rieske domain-containing protein isoform X2"
                     /calculated_mol_wt=17631
     Region          18..>96
                     /region_name="Rieske"
                     /note="Rieske domain; a [2Fe-2S] cluster binding domain
                     commonly found in Rieske non-heme iron oxygenase (RO)
                     systems such as naphthalene and biphenyl dioxygenases, as
                     well as in plant/cyanobacterial chloroplast b6f and
                     mitochondrial cytochrome bc(1) complexes; cd03467"
                     /db_xref="CDD:239550"
     Site            order(57,59..60,80,82..83,85,87)
                     /site_type="other"
                     /note="iron-sulfur cluster [ion binding]"
                     /db_xref="CDD:239550"
     Site            order(57,59..60,80,83,85)
                     /site_type="other"
                     /note="[2Fe-2S] cluster binding site [ion binding]"
                     /db_xref="CDD:239550"
     CDS             1..157
                     /gene="RFESD"
                     /coded_by="XM_047417137.1:1516..1989"
                     /db_xref="GeneID:317671"
                     /db_xref="HGNC:HGNC:29587"
ORIGIN      
        1 mnldgsaqdp ekreyssvcv greddikkse rmtavvhdre vvifyhkgey hamdircyhs
       61 ggplhlgdie dfdgrpcivc pwhkykitla tgeglyqsin pkdpsakpkw cskgikqrih
      121 tvtvdngniy vtlsnepfkc dsdfyatgdf kviksss
//
LOCUS       XP_016869082             785 aa            linear   PRI 20-MAR-2023
DEFINITION  oxidation resistance protein 1 isoform X6 [Homo sapiens].
ACCESSION   XP_016869082
VERSION     XP_016869082.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017013593.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..785
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..785
                     /product="oxidation resistance protein 1 isoform X6"
                     /calculated_mol_wt=88044
     Region          12..54
                     /region_name="LysM"
                     /note="LysM domain; pfam01476"
                     /db_xref="CDD:396179"
     Region          623..785
                     /region_name="TLDc"
                     /note="domain in TBC and LysM domain containing proteins;
                     smart00584"
                     /db_xref="CDD:214733"
     CDS             1..785
                     /gene="OXR1"
                     /gene_synonym="CHEGDD; Nbla00307; TLDC3"
                     /coded_by="XM_017013593.3:277..2634"
                     /db_xref="GeneID:55074"
                     /db_xref="HGNC:HGNC:15822"
                     /db_xref="MIM:605609"
ORIGIN      
        1 msfqkpkgti eytvesrdsl nsialkfdtt pnelvqlnkl fsravvtgqv lyvpdpeyvs
       61 svesspslsp vsplsptsse aefdkttnpd vhpteatpss tftgirparv vsstseeeea
      121 ftekflkinc kyitsgkgtv sgvllvtpnn imfdphkndp lvqengceey gimcpmeevm
      181 saamykeild skikeslpid idqlsgrdfc hskkmtgsnt eeidsrirda gndsastapr
      241 steeslsedv fteselspir eelvssdelr qdkssgasse svqtvnqaev esltvksest
      301 gtpghlrsdt ehstnevgtl chktdlnnle maikedqiad nfqgisgpke dstsikgnsd
      361 qdsflhensl hqeesqkenm pcgetaefkq kqsvnkgkqg keqnqdsqte aeelrklwkt
      421 htmqqtkqqr eniqqvsqke akhkitsadg hiessallke kqrhrlhkfl clrvgkpmrk
      481 tfvsqasatm qqyaqrdkkh eywfavpqer tdhlyaffiq wspeiyaedt geytrepgfi
      541 vvkkieeset iedssnqaaa rewevvsvae yhrridalnt eelrtlcrrl qittredins
      601 kqvatvkadl esesfrpnls dpselllpdq iekltkhlpp rtigypwtlv ygtgkhgtsl
      661 ktlyrtmtgl dtpvlmvikd sdgqvfgala seplkvsdgf ygtgetfvft fcpefevfkw
      721 tgdnmffikg dmdslafggg ggefalwldg dlyhgrshsc ktfgnrtlsk kedffiqdie
      781 iwafe
//
LOCUS       XP_006724629             885 aa            linear   PRI 20-MAR-2023
DEFINITION  peripheral plasma membrane protein CASK isoform X6 [Homo sapiens].
ACCESSION   XP_006724629
VERSION     XP_006724629.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006724566.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..885
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..885
                     /product="peripheral plasma membrane protein CASK isoform
                     X6"
                     /calculated_mol_wt=100673
     Region          8..307
                     /region_name="STKc_CASK"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Calcium/calmodulin-dependent serine protein kinase;
                     cd14094"
                     /db_xref="CDD:270996"
     Site            order(18..20,22,24,26,39,41,75,91..94,98,100,140..141,143,
                     145..146,148,162,165,180..184,186)
                     /site_type="active"
                     /db_xref="CDD:270996"
     Site            order(18..20,24,26,39,41,75,91..94,145..146,148,162)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270996"
     Site            order(22,98,100,140..141,143,145,165,180..184,186)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270996"
     Site            161..184
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270996"
     Region          342..395
                     /region_name="L27"
                     /note="domain in receptor targeting proteins Lin-2 and
                     Lin-7; smart00569"
                     /db_xref="CDD:197794"
     Region          400..450
                     /region_name="L27"
                     /note="L27 domain; pfam02828"
                     /db_xref="CDD:427009"
     Region          482..562
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Site            order(494..497,499,546..547,550..551)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          575..636
                     /region_name="SH3_CASK"
                     /note="Src Homology 3 domain of
                     Calcium/calmodulin-dependent Serine protein Kinase;
                     cd12081"
                     /db_xref="CDD:213014"
     Site            order(577,601..602)
                     /site_type="other"
                     /note="GuK domain interface [polypeptide binding]"
                     /db_xref="CDD:213014"
     Site            order(580,582,585,596,614..615,632,634..635)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:213014"
     Region          697..870
                     /region_name="Guanylate_kin"
                     /note="Guanylate kinase; pfam00625"
                     /db_xref="CDD:395500"
     CDS             1..885
                     /gene="CASK"
                     /gene_synonym="CAGH39; CAMGUK; CMG; FGS4; hCASK; LIN2;
                     MICPCH; MRXSNA; TNRC8"
                     /coded_by="XM_006724566.4:47..2704"
                     /db_xref="GeneID:8573"
                     /db_xref="HGNC:HGNC:1497"
                     /db_xref="MIM:300172"
ORIGIN      
        1 madddvlfed vyelcevigk gpfsvvrrci nretgqqfav kivdvakfts spglstedlk
       61 reasichmlk hphivellet yssdgmlymv fefmdgadlc feivkradag fvyseavash
      121 ymrqilealr ychdnniihr dvkphcvlla skensapvkl ggfgvaiqlg esglvaggrv
      181 gtphfmapev vkrepygkpv dvwgcgvilf illsgclpfy gtkerlfegi ikgkykmnpr
      241 qwshisesak dlvrrmlmld paeritvyea lnhpwlkerd ryaykihlpe tveqlrkfna
      301 rrklkgavla avsshkfnsf ygdppeelpd fsedptssga vsqvldslee ihaltdcsek
      361 dldflhsvfq dqhlhtlldl ydkintkssp qirnppsdav qrakevleei scypenndak
      421 elkriltqph fmallqthdv vahevysdea lrvtppptsp ylngdspesa ngdmdmenvt
      481 rvrlvqfqkn tdepmgitlk mnelnhciva rimhggmihr qgtlhvgdei reingisvan
      541 qtveqlqkml remrgsitfk ivpsyrtqss sceiyvraqf eydpakddli pckeagirfr
      601 vgdiiqiisk ddhnwwqgkl enskngtagl ipspelqewr vaciamektk qeqqasctwf
      661 gkkkkqykdk ylakhnavfd qldlvtyeev vklpafkrkt lvllgahgvg rrhikntlit
      721 khpdrfaypi phttrppkkd eengknyyfv shdqmmqdis nneyleygsh edamygtkle
      781 tirkiheqgl iaildvepqa lkvlrtaefa pfvvfiaapt itpglnedes lqrlqkesdi
      841 lqrtyahyfd ltiinneide tirhleeave lvctapqwvp vswvy
//
LOCUS       XP_054224478             471 aa            linear   PRI 20-MAR-2023
DEFINITION  EF-hand calcium-binding domain-containing protein 4A isoform X8
            [Homo sapiens].
ACCESSION   XP_054224478
VERSION     XP_054224478.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368503.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..471
                     /product="EF-hand calcium-binding domain-containing
                     protein 4A isoform X8"
                     /calculated_mol_wt=51992
     CDS             1..471
                     /gene="CRACR2B"
                     /gene_synonym="EFCAB4A"
                     /coded_by="XM_054368503.1:594..2009"
                     /db_xref="GeneID:283229"
                     /db_xref="HGNC:HGNC:28703"
                     /db_xref="MIM:614177"
ORIGIN      
        1 mrprrrrgns rgalqgrglq ywsrlrscfc cvtrrlrass psttcrvsra tcpsrqsswr
       61 lclkvwtglt lassppgssa wawvslwpay pplpraggli rrpgtcgalr aagasrppps
      121 raralsartr awgllaavec veltflapss spvlssgmfv gvasaqganp crtpeetfes
      181 ggldvqgtag sldeeeeeee rfhtvleqlg vapvlgkqra vrtlwarlqr erpellgsfe
      241 dvlirasacl eeaarerdgl eqalrrrese herevralye eteqlreqsr rppsqnfarg
      301 errsrlelel qsreqdlera glrqreleqq lhaqaaehle aqaqnsqlwr ahealrtqle
      361 gaqeqirrle seargrqeqt qrcrgtglgg prcvsrgrgr ralrsgplss psqvpgpprg
      421 kedllggpga pqgaflqpgh hlpstetwsp spgtcrkrks acygnwscsg s
//
LOCUS       XP_054173180             187 aa            linear   PRI 20-MAR-2023
DEFINITION  cytochrome b-245 chaperone 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054173180
VERSION     XP_054173180.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317205.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..187
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..187
                     /product="cytochrome b-245 chaperone 1 isoform X1"
                     /calculated_mol_wt=20643
     CDS             1..187
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /coded_by="XM_054317205.1:39..602"
                     /db_xref="GeneID:79415"
                     /db_xref="HGNC:HGNC:28672"
                     /db_xref="MIM:618334"
ORIGIN      
        1 mylqvetrts srlhlkrapg irswsllvgi lsiglaaayy sgdslgwklf yvtgclfvav
       61 qnledweeai fdkstgkvvl ktfslykkll tlfraghdqv vvllhdvrdv sveeekvryf
      121 gkgymvvlrl atgfshpltq savmghrsdv eaiaklitsf lelhclespt elsqssdsea
      181 gdpasqs
//
LOCUS       XP_054178746            1379 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 536 isoform X2 [Homo sapiens].
ACCESSION   XP_054178746
VERSION     XP_054178746.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322771.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1379
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1379
                     /product="zinc finger protein 536 isoform X2"
                     /calculated_mol_wt=150176
     CDS             1..1379
                     /gene="ZNF536"
                     /coded_by="XM_054322771.1:377..4516"
                     /db_xref="GeneID:9745"
                     /db_xref="HGNC:HGNC:29025"
                     /db_xref="MIM:618037"
ORIGIN      
        1 meeaslclgv ssaepeaeph lsgpvlngqy amsqklhqit sqlshafpel hprpnpeekp
       61 pasleekahv pmsgqpmgsq mallanqlgr evdtslngrv dlqqflngqn lgimsqmsdi
      121 eddarknrky pcplcgkrfr fnsilslhmr thtgekpfkc pycdhraaqk gnlkihlrth
      181 klgnlgkgrg rvreenrllh eleerailrd kqlkgsllqp rpdlkpppha qqaplaactl
      241 alqanhsvpd vahpvpspkp asvqedavap aagfrctfck gkfkkreeld rhirilhkpy
      301 kctlcdfaas qeeelishve kahitaesaq gqgpngggeq sanefrcevc gqvfsqawfl
      361 kghmrkhkds fehccqicgr rfkepwflkn hmkvhlnkls vknkspsdpe vpvpmggmsq
      421 eahanlysry lsclqsgfmt pdkaglseps qlygkgelpm kekealgkll spissmahgv
      481 pegdkhsllg clnlvpplks scierlqaaa kaaemdpvns yqawqlmarg mamehgflsk
      541 ehplqrnhed tlanagvlfd kekreyvlvg adgskqkmpa dlvhstkvgs qrdlpskldp
      601 lessrdflsh glnqtleynl qgpgnmkekp tecpdcgrvf rtyhqvvvhs rvhkrdrkge
      661 edglhvglde rrgsgsdqes qsvsrsttpg ssnvteesgv ggglsqtgsa qedsphpssp
      721 sssdigeeag rsagvqqpal lrdrslgsam kdcpycgktf rtshhlkvhl rihtgekpyk
      781 cphcdyagtq saslkyhler hhrerqngag plsgqppnqd hkdemsskas lfirpdilrg
      841 afkglpgidf rggpasqqwt sgvlssgdhs gqatgmssev psdalkgtdl psksthfsei
      901 grayqsivsn gvnfqgslqa fmdsfvlssl kkekdmkdka ladppsmkvh gvdggeekps
      961 gkssqrksek sqyepldlsv rpdaaslpgs svtvqdsiaw hgclfcaftt ssmelmalhl
     1021 qanhlgkakr kdntigvtvn ckdqareask mallpslqsn kdlglsnmis sldsasekma
     1081 qgqlketlge qksgawtghv dpafcnfpsd fykqfgvypg mvgsgasssc pnkepdgkah
     1141 seedvpilip ettsknttdd lsdiassedm dsskgennde edvetepemm tkplsalskd
     1201 sssdggdslq ptgtsqpvqg lvsplsqape kqwhsqgllq aqdplaglpk pergpqsldk
     1261 pmnmlsvlra yssdglaafn glasstansg cikrpdlcgh rpfqcrycpy sasqkgnlkt
     1321 hvlcvhrmpf dnsqypdrrf krsrvdseas gnfeeptavk agssadltee ggkgqeetn
//
LOCUS       XP_054181182             309 aa            linear   PRI 20-MAR-2023
DEFINITION  postacrosomal sheath WW domain-binding protein isoform X2 [Homo
            sapiens].
ACCESSION   XP_054181182
VERSION     XP_054181182.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325207.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..309
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..309
                     /product="postacrosomal sheath WW domain-binding protein
                     isoform X2"
                     /calculated_mol_wt=31778
     CDS             1..309
                     /gene="WBP2NL"
                     /gene_synonym="GRAMD7; PAWP"
                     /coded_by="XM_054325207.1:32..961"
                     /db_xref="GeneID:164684"
                     /db_xref="HGNC:HGNC:28389"
                     /db_xref="MIM:610981"
ORIGIN      
        1 mavnqshten rrgalipnge sllkrspnve lsfpqrsegs nvfsgrktgt lfltsyrvif
       61 itscsisdpm lsfmmpfdlm tnltveqpvf aanfikgtiq aapyggwegq atfklvfrng
      121 daiefaqlmv kaasaaargf plrtlndwfs smgiyvitge gnmctpqmpc svivygappa
      181 gygapppgyg appagygaqp vgnegppvgy raspvrygap plgygappag ygapplgyga
      241 pplgygtppl gygapplgyg appagnegpp agyraspags garpqestaa qapeneaslp
      301 sasssqvhs
//
LOCUS       XP_054219246            1894 aa            linear   PRI 20-MAR-2023
DEFINITION  DENN domain-containing protein 4C isoform X2 [Homo sapiens].
ACCESSION   XP_054219246
VERSION     XP_054219246.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363271.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1894
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1894
                     /product="DENN domain-containing protein 4C isoform X2"
                     /calculated_mol_wt=210412
     CDS             1..1894
                     /gene="DENND4C"
                     /gene_synonym="bA513M16.3; C9orf55; C9orf55B; RAB10GEF"
                     /coded_by="XM_054363271.1:249..5933"
                     /db_xref="GeneID:55667"
                     /db_xref="HGNC:HGNC:26079"
ORIGIN      
        1 miedkgprvt dyfvvagltd tstlldqein rldtkstgpk apitdiaiii ksagetvpeg
       61 ytcveatpsa lqanlnygsl kspelflcyk rgrdkppltd igvlyegker lipgcevila
      121 tpygrcanvn nssttsqrif ityrrappvr pqnslavtdi cvivtskget pphtfckvdk
      181 nlncgmwgss vflcykksvp asnaiaykag lifrypeedy esfplsesdv plfclpmgat
      241 iecwdpetky plpvfstfvl tgssakkvyg aaiqfyepys rellsekqlm hlglltpver
      301 kmvsksintn kcicllshwp ffeafrkflm fiyklsvsgp hplpiekhis hfmqnipfps
      361 pqrprilvql svhdalilsq pvstplplsg anfstllmnl gpencatlll fvlleskill
      421 hslrpavltg vaeavvamif pfqwqcpyip lcplslaavl saplpfivgv dsryfdlhdp
      481 pqdvvcidld tnmlyvsdek knmnwkqlpk kpcknllstl kklypqlssv hqktqegsai
      541 dmtpieadfs wqkkmtqlem eiqeaflrfm asilkgyrty lrpiteapsn kataadslfd
      601 rqgflksrdr ayakfytlls ktqifirfie ecsfvsdkdt glaffddcie klfpdkgtek
      661 tdkvdfdsae dtrlieldds qksehtvfim ppepppddgk dlspkysyky fprldlklfd
      721 rpqelklcfs rhptgnsitk spplmakrtk qeiktahkla krcytnppqw akclfshcys
      781 lwficlpayv rvshpkvral qqaydvlikm rktdvdplde vcyrvvmqlc glwghpvlav
      841 rvlfemktar ikpnaitygy ynkvvlespw psstrsgifl wtkvrnvvrg laqfrqplkk
      901 tvqrsqvssi salqnvtggs dgdtvshgsv dssndannge htvfvrdlir lesidnhsst
      961 ggqsdqgygs kdelikddae ihvpeeqaar elitktkmqt eevcdasaiv akhsqpspep
     1021 hspteppawg ssivkvpsgi fdvnsrksst gsisnvlfst qdpvedavfg eatnlkkngd
     1081 rgekrqkhfp erscsfsses ragmllkkss ldsnssemai mmgadakilt aaltcpktsl
     1141 lhiarthsfe nvschlpdsr tcmsestwnp ehrsspvpem leesqellep vvddvpktta
     1201 tvdtyeslls dsnsnqsrdl ktvskdlrnk rsslygiakv vqredvetgl dplsllatec
     1261 tggktpdsed klfspviarn ladeiesymn lksplgskss smelhreenr esgmttafih
     1321 alerrsslpl dhgspaqenp eseksspavs rsktftgrfk qqtpsrthke rstslsalvr
     1381 ssphgslgsv vnslsglkld nilsgpkidv lksgmkqaat vaskmwvava saysysddee
     1441 etnrdysfpa gledhilgen ispntsisgl vpseltqsnt slgsssssgd vgklhyptge
     1501 vpfprgmkgq dfeksdhgss qntsmssiyq ncamevlmss csqcracgal vydeeimagw
     1561 taddsnlnta cpfcksnflp llniefkdlr gsasfflkps tsgdslqsgs iplanesleh
     1621 kpvsslaepd linfmdfpkh nqiiteetgs avepsdeikr asgdvqtmki ssvpnslskr
     1681 nvsltrshsv ggplqnidft qrpfhgistv slpnslqevv dplgkrpnpp pvsvpylspl
     1741 vlrkelesll enegdqviht ssfinqhpii fwnlvwyfrr ldlpsnlpgl iltsehcneg
     1801 vqlplsslsq dsklvyiqll wdninlhqep replyvswrn fnsekkssll seeqqetstl
     1861 vetirqsiqh nnvlkpinll sqqmkpgmkr qrgi
//
LOCUS       XP_047303161             288 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-specific Y-encoded protein 3 isoform X3 [Homo sapiens].
ACCESSION   XP_047303161
VERSION     XP_047303161.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047447205.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060948) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..288
                     /organism="Homo sapiens"
                     /isolate="NA24385"
                     /bio_material="CORIELL:NA24385"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /sex="male"
                     /tissue_type="B-Lymphocyte"
     Protein         1..288
                     /product="testis-specific Y-encoded protein 3 isoform X3"
                     /calculated_mol_wt=31734
     Region          126..>191
                     /region_name="NAP"
                     /note="Nucleosome assembly protein (NAP); cl08298"
                     /db_xref="CDD:447601"
     CDS             1..288
                     /gene="LOC124908979"
                     /coded_by="XM_047447205.1:15..881"
                     /db_xref="GeneID:124908979"
ORIGIN      
        1 mrpegsltyr vperlrqgfc gvgraaqalv casakegtaf rmeavqegaa gveseqaalg
       61 eeavlllddi maevevvaee eglverreea qraqqavpgp gpmtpesale ellavqvele
      121 pvnaqarkaf srqrekmerr rkphldrrga viqsvpgfwa nvianhpqms alitdededm
      181 lsymvsleve eekhpvhlck imlffrsnpy fqnkvitkey lvnitgllip lqlsgirimk
      241 wrpiaadttt aaltsstgsl tttsqdltrl lrsyvrtcga ipcnttrg
//
LOCUS       NP_001393984             553 aa            linear   PRI 26-MAR-2023
DEFINITION  merlin isoform 11 [Homo sapiens].
ACCESSION   NP_001393984
VERSION     NP_001393984.1
DBSOURCE    REFSEQ: accession NM_001407055.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 553)
  AUTHORS   Paintal A and Antic T.
  TITLE     The emerging role of NF2 alterations in new and established
            subtypes of renal cell carcinoma
  JOURNAL   Hum Pathol 133, 87-91 (2023)
   PUBMED   35705112
  REMARK    GeneRIF: The emerging role of NF2 alterations in new and
            established subtypes of renal cell carcinoma.
            Review article
REFERENCE   2  (residues 1 to 553)
  AUTHORS   Hennigan RF, Thomson CS, Stachowski K, Nassar N and Ratner N.
  TITLE     Merlin tumor suppressor function is regulated by PIP2-mediated
            dimerization
  JOURNAL   PLoS One 18 (2), e0281876 (2023)
   PUBMED   36809290
  REMARK    GeneRIF: Merlin tumor suppressor function is regulated by
            PIP2-mediated dimerization.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 553)
  AUTHORS   Vasan V, Dullea JT, Devarajan A, Ali M, Rutland JW, Gill CM,
            Kinoshita Y, McBride RB, Gliedman P, Bederson J, Donovan M, Sebra
            R, Umphlett M and Shrivastava RK.
  TITLE     NF2 mutations are associated with resistance to radiation therapy
            for grade 2 and grade 3 recurrent meningiomas
  JOURNAL   J Neurooncol 161 (2), 309-316 (2023)
   PUBMED   36436149
  REMARK    GeneRIF: NF2 mutations are associated with resistance to radiation
            therapy for grade 2 and grade 3 recurrent meningiomas.
REFERENCE   4  (residues 1 to 553)
  AUTHORS   Collins K, Hwang M, Antic T, Paintal A, Argani P, Matoso A,
            Gopinath A, Baskovich B, Mehra R, Williamson SR, Idrees MT,
            Barletta JA, Anderson WJ, Hirsch MS, Hornick JL and Acosta AM.
  TITLE     Merlin immunohistochemistry is useful in diagnosis of tumours
            within the spectrum of biphasic hyalinizing psammomatous renal cell
            carcinoma
  JOURNAL   Histopathology 81 (5), 577-586 (2022)
   PUBMED   35971742
  REMARK    GeneRIF: Merlin immunohistochemistry is useful in diagnosis of
            tumours within the spectrum of biphasic hyalinizing psammomatous
            renal cell carcinoma.
REFERENCE   5  (residues 1 to 553)
  AUTHORS   Paintal A, Tjota MY, Wang P, Fitzpatrick C, Wanjari P, Stadler WM,
            Gallan AJ, Segal J and Antic T.
  TITLE     NF2-mutated Renal Carcinomas Have Common Morphologic Features Which
            Overlap With Biphasic Hyalinizing Psammomatous Renal Cell
            Carcinoma: A Comprehensive Study of 14 Cases
  JOURNAL   Am J Surg Pathol 46 (5), 617-627 (2022)
   PUBMED   35034039
  REMARK    GeneRIF: NF2-mutated Renal Carcinomas Have Common Morphologic
            Features Which Overlap With Biphasic Hyalinizing Psammomatous Renal
            Cell Carcinoma: A Comprehensive Study of 14 Cases.
REFERENCE   6  (residues 1 to 553)
  AUTHORS   den Bakker MA, Tascilar M, Riegman PH, Hekman AC, Boersma W,
            Janssen PJ, de Jong TA, Hendriks W, van der Kwast TH and Zwarthoff
            EC.
  TITLE     Neurofibromatosis type 2 protein co-localizes with elements of the
            cytoskeleton
  JOURNAL   Am J Pathol 147 (5), 1339-1349 (1995)
   PUBMED   7485397
REFERENCE   7  (residues 1 to 553)
  AUTHORS   Evans DG, Bourn D, Wallace A, Ramsden RT, Mitchell JD and Strachan
            T.
  TITLE     Diagnostic issues in a family with late onset type 2
            neurofibromatosis
  JOURNAL   J Med Genet 32 (6), 470-474 (1995)
   PUBMED   7666400
REFERENCE   8  (residues 1 to 553)
  AUTHORS   Honda M, Arai E, Sawada S, Ohta A and Niimura M.
  TITLE     Neurofibromatosis 2 and neurilemmomatosis gene are identical
  JOURNAL   J Invest Dermatol 104 (1), 74-77 (1995)
   PUBMED   7798645
REFERENCE   9  (residues 1 to 553)
  AUTHORS   Evans,D.G.
  TITLE     Neurofibromatosis 2
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301380
REFERENCE   10 (residues 1 to 553)
  AUTHORS   Arai E, Ikeuchi T, Karasawa S, Tamura A, Yamamoto K, Kida M,
            Ichimura K, Yuasa Y and Tonomura A.
  TITLE     Constitutional translocation t(4;22) (q12;q12.2) associated with
            neurofibromatosis type 2
  JOURNAL   Am J Med Genet 44 (2), 163-167 (1992)
   PUBMED   1456285
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005529.7 and AC004882.3.
            
            Summary: This gene encodes a protein that is similar to some
            members of the ERM (ezrin, radixin, moesin) family of proteins that
            link cytoskeletal components with proteins in the cell membrane.
            The encoded protein is involved in regulation of contact-dependent
            inhibition of cell proliferation and functions in cell-cell
            adhesion and transmembrane signaling. The encoded protein has been
            shown to interact with cell-surface proteins, proteins involved in
            cytoskeletal dynamics, and proteins involved in regulating ion
            transport. Disruption of this protein's function has been
            implicated in tumorigenesis and metastasis. Mutations in this gene
            are associated with neurofibromatosis type II which is
            characterized by nervous system and skin tumors and ocular
            abnormalities. [provided by RefSeq, May 2022].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3428532.1,
                                           SRR18074967.646021.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..553
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..553
                     /product="merlin isoform 11"
                     /note="moesin-ezrin-radixin like; neurofibromin 2
                     (bilateral acoustic neuroma); schwannomin;
                     moesin-ezrin-radizin-like protein; schwannomerlin; merlin;
                     moesin-ezrin-radixin-like protein; neurofibromin-2;
                     bilateral acoustic neurofibromatosis"
                     /calculated_mol_wt=64466
     Region          <38..180
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          174..270
                     /region_name="FERM_C_ERM"
                     /note="FERM domain C-lobe/F3 of the ERM family; cd13194"
                     /db_xref="CDD:270015"
     Site            order(216..217,219..225,234,255,258..259,262)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:270015"
     Site            order(216,219..226,234,255,258..259,262)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:270015"
     Site            order(252,256)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:270015"
     Site            255..270
                     /site_type="other"
                     /note="actin binding site 2 [polypeptide binding]"
                     /db_xref="CDD:270015"
     Region          265..>325
                     /region_name="PLN03086"
                     /note="PRLI-interacting factor K; Provisional"
                     /db_xref="CDD:178635"
     Region          304..553
                     /region_name="ERM"
                     /note="Ezrin/radixin/moesin family; pfam00769"
                     /db_xref="CDD:425860"
     CDS             1..553
                     /gene="NF2"
                     /gene_synonym="ACN; BANF; merlin-1; SCH"
                     /coded_by="NM_001407055.1:367..2028"
                     /note="isoform 11 is encoded by transcript variant 17"
                     /db_xref="GeneID:4771"
                     /db_xref="HGNC:HGNC:7773"
                     /db_xref="MIM:607379"
ORIGIN      
        1 magaiasrms fsslkrkqpk tftvrivtmd aemefncevl dhdvskeepv tfhflakfyp
       61 enaeeelvqe itqhlfflqv kkqildekiy cppeasvlla syavqakygd ydpsvhkrgf
      121 laqeellpkr vinlyqmtpe mweeritawy aehrgrarde aemeylkiaq dlemygvnyf
      181 airnkkgtel llgvdalglh iydpenrltp kisfpwneir nisysdkeft ikpldkkidv
      241 fkfnssklrv nklilqlcig nhdlfmrrrk adslevqqmk aqareekark qmerqrlare
      301 kqmreeaert rdelerrllq mkeeatmane almrseetad llaekaqite eeakllaqka
      361 aeaeqemqri katairteee krlmeqkvle aevlalkmae eserrakead qlkqdlqear
      421 eaerrakqkl leiatkptyp pmnpipaplp pdipsfnlig dslsfdfkdt dmkrlsmeie
      481 kekveymeks khlqeqlnel kteiealklk eretaldilh nensdrggss khntikkltl
      541 qsaksrvaff eel
//
LOCUS       NP_001307899             918 aa            linear   PRI 10-APR-2023
DEFINITION  DNA ligase 1 isoform 4 [Homo sapiens].
ACCESSION   NP_001307899 XP_006723278
VERSION     NP_001307899.1
DBSOURCE    REFSEQ: accession NM_001320970.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 918)
  AUTHORS   Bhandari SK, Wiest N, Sallmyr A, Du R, Ferry L, Defossez PA and
            Tomkinson AE.
  TITLE     Unchanged PCNA and DNMT1 dynamics during replication in DNA ligase
            I-deficient cells but abnormal chromatin levels of non-replicative
            histone H1
  JOURNAL   Sci Rep 13 (1), 4363 (2023)
   PUBMED   36928068
  REMARK    GeneRIF: Unchanged PCNA and DNMT1 dynamics during replication in
            DNA ligase I-deficient cells but abnormal chromatin levels of
            non-replicative histone H1.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 918)
  AUTHORS   McNally JR, Ames AM, Admiraal SJ and O'Brien PJ.
  TITLE     Human DNA ligases I and III have stand-alone end-joining
            capability, but differ in ligation efficiency and specificity
  JOURNAL   Nucleic Acids Res 51 (2), 796-805 (2023)
   PUBMED   36625284
  REMARK    GeneRIF: Human DNA ligases I and III have stand-alone end-joining
            capability, but differ in ligation efficiency and specificity.
REFERENCE   3  (residues 1 to 918)
  AUTHORS   Ali R, Alabdullah M, Algethami M, Alblihy A, Miligy I, Shoqafi A,
            Mesquita KA, Abdel-Fatah T, Chan SY, Chiang PW, Mongan NP, Rakha
            EA, Tomkinson AE and Madhusudan S.
  TITLE     Ligase 1 is a predictor of platinum resistance and its blockade is
            synthetically lethal in XRCC1 deficient epithelial ovarian cancers
  JOURNAL   Theranostics 11 (17), 8350-8361 (2021)
   PUBMED   34373746
  REMARK    GeneRIF: Ligase 1 is a predictor of platinum resistance and its
            blockade is synthetically lethal in XRCC1 deficient epithelial
            ovarian cancers.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 918)
  AUTHORS   Jurkiw TJ, Tumbale PP, Schellenberg MJ, Cunningham-Rundles C,
            Williams RS and O'Brien PJ.
  TITLE     LIG1 syndrome mutations remodel a cooperative network of ligand
            binding interactions to compromise ligation efficiency
  JOURNAL   Nucleic Acids Res 49 (3), 1619-1630 (2021)
   PUBMED   33444456
  REMARK    GeneRIF: LIG1 syndrome mutations remodel a cooperative network of
            ligand binding interactions to compromise ligation efficiency.
REFERENCE   5  (residues 1 to 918)
  AUTHORS   Kamble P, Hall K, Chandak M, Tang Q and Caglayan M.
  TITLE     DNA ligase I fidelity mediates the mutagenic ligation of pol beta
            oxidized and mismatch nucleotide insertion products in base
            excision repair
  JOURNAL   J Biol Chem 296, 100427 (2021)
   PUBMED   33600799
  REMARK    GeneRIF: DNA ligase I fidelity mediates the mutagenic ligation of
            pol beta oxidized and mismatch nucleotide insertion products in
            base excision repair.
REFERENCE   6  (residues 1 to 918)
  AUTHORS   Webster AD, Barnes DE, Arlett CF, Lehmann AR and Lindahl T.
  TITLE     Growth retardation and immunodeficiency in a patient with mutations
            in the DNA ligase I gene
  JOURNAL   Lancet 339 (8808), 1508-1509 (1992)
   PUBMED   1351188
REFERENCE   7  (residues 1 to 918)
  AUTHORS   Barnes DE, Tomkinson AE, Lehmann AR, Webster AD and Lindahl T.
  TITLE     Mutations in the DNA ligase I gene of an individual with
            immunodeficiencies and cellular hypersensitivity to DNA-damaging
            agents
  JOURNAL   Cell 69 (3), 495-503 (1992)
   PUBMED   1581963
REFERENCE   8  (residues 1 to 918)
  AUTHORS   Barnes DE, Kodama K, Tynan K, Trask BJ, Christensen M, De Jong PJ,
            Spurr NK, Lindahl T and Mohrenweiser HW.
  TITLE     Assignment of the gene encoding DNA ligase I to human chromosome
            19q13.2-13.3
  JOURNAL   Genomics 12 (1), 164-166 (1992)
   PUBMED   1733856
REFERENCE   9  (residues 1 to 918)
  AUTHORS   Petrini JH, Huwiler KG and Weaver DT.
  TITLE     A wild-type DNA ligase I gene is expressed in Bloom's syndrome
            cells
  JOURNAL   Proc Natl Acad Sci U S A 88 (17), 7615-7619 (1991)
   PUBMED   1881902
REFERENCE   10 (residues 1 to 918)
  AUTHORS   Lasko DD, Tomkinson AE and Lindahl T.
  TITLE     Mammalian DNA ligases. Biosynthesis and intracellular localization
            of DNA ligase I
  JOURNAL   J Biol Chem 265 (21), 12618-12622 (1990)
   PUBMED   2197279
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011466.6, KC877741.1 and
            BC108318.1.
            On Mar 12, 2016 this sequence version replaced XP_006723278.1.
            
            Summary: This gene encodes a member of the ATP-dependent DNA ligase
            protein family. The encoded protein functions in DNA replication,
            recombination, and the base excision repair process. Mutations in
            this gene that lead to DNA ligase I deficiency result in
            immunodeficiency and increased sensitivity to DNA-damaging agents.
            Disruption of this gene may also be associated with a variety of
            cancers. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jan 2014].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.27718.1,
                                           SRR1803615.179219.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..918
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..918
                     /product="DNA ligase 1 isoform 4"
                     /EC_number="6.5.1.1"
                     /note="polydeoxyribonucleotide synthase [ATP] 1; ligase I,
                     DNA, ATP-dependent"
                     /calculated_mol_wt=101476
     Region          <10..274
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     Site            47
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            49
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            51
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            66
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:17693683,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P18858.1)"
     Site            76
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:17693683,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            141
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Region          163..913
                     /region_name="PLN03113"
                     /note="DNA ligase 1; Provisional"
                     /db_xref="CDD:215584"
     Site            194
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            198
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            200
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            206
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            225
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P37913; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            228
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            229
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            232
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            304
                     /site_type="other"
                     /note="Interaction with target DNA; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Region          448..457
                     /region_name="Interaction with target DNA"
                     /note="propagated from UniProtKB/Swiss-Prot (P18858.1)"
     Site            589
                     /site_type="other"
                     /note="Interaction with target DNA; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Region          641..643
                     /region_name="Interaction with target DNA"
                     /note="propagated from UniProtKB/Swiss-Prot (P18858.1)"
     Site            769
                     /site_type="other"
                     /note="Interaction with target DNA; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            794
                     /site_type="other"
                     /note="Interaction with target DNA; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            797
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            800
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            818
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     Site            910
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (P18858.1)"
     Site            912
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P18858.1)"
     CDS             1..918
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /coded_by="NM_001320970.2:162..2918"
                     /note="isoform 4 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS92658.1"
                     /db_xref="GeneID:3978"
                     /db_xref="HGNC:HGNC:6598"
                     /db_xref="MIM:126391"
ORIGIN      
        1 mqrsimsffh pkkegkakkp ekeasnssre tepppkaalk ewngvvsesd spvkrpgrka
       61 arvlgsegee edealspakg qkpaldcsqv spprpatspe nnaslsdtsp mdsspsgipk
      121 rrtarkqlpk rtiqevleeq sededreakr kkeeeeetpk eslteaevat ekegedgdqp
      181 ttppkplkts kaetptesvs epevatkqel qeeeeqtkpp rrapktlssf ftprkpavkk
      241 evkeeepgap gkegaaegpl dpsgynpakn nyhpvedacw kpgqkvpyla vartfekiee
      301 vsarlrmvet lsnllrsvva lsppdllpvl ylslnhlgpp qqglelgvgd gvllkavaqa
      361 tgrqlesvra eaaekgdvgl vaensrstqr lmlpppplta sgvfskfrdi arltgsasta
      421 kkidiikglf vacrhsearf iarslsgrlr lglaeqsvla alsqavsltp pgqefppamv
      481 dagkgktaea rktwleeqgm ilkqtfcevp dldriipvll ehglerlpeh cklspgiplk
      541 pmlahptrgi sevlkrfeea aftceykydg qraqihaleg gevkifsrnq edntgkypdi
      601 isripkiklp svtsfildte avawdrekkq iqpfqvlttr krkevdasei qvqvclyafd
      661 liylngeslv replsrrrql lrenfveteg efvfatsldt kdieqiaefl eqsvkdsceg
      721 lmvktldvda tyeiakrshn wlklkkdyld gvgdtldlvv igaylgrgkr agryggflla
      781 sydedseelq aicklgtgfs deeleehhqs lkalvlpspr pyvridgavi pdhwldpsav
      841 wevkcadlsl spiypaargl vdsdkgislr fprfirvred kqpeqattsa qvaclyrkqs
      901 qiqnqqgeds gsdpedty
//
LOCUS       NP_001337695             203 aa            linear   PRI 17-APR-2023
DEFINITION  ribosome biogenesis protein C1orf109 isoform 3 [Homo sapiens].
ACCESSION   NP_001337695 XP_016857044
VERSION     NP_001337695.1
DBSOURCE    REFSEQ: accession NM_001350766.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 203)
  AUTHORS   Sun J, Zhang X and Sun Y.
  TITLE     C1orf109 promotes malignant phenotype of liver cancer via wnt
            signaling pathway in a CK2-dependent manner
  JOURNAL   J Mol Histol 54 (2), 135-145 (2023)
   PUBMED   36988773
  REMARK    GeneRIF: C1orf109 promotes malignant phenotype of liver cancer via
            wnt signaling pathway in a CK2-dependent manner.
REFERENCE   2  (residues 1 to 203)
  AUTHORS   Ni C, Schmitz DA, Lee J, Pawlowski K, Wu J and Buszczak M.
  TITLE     Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5
            control a late step in human ribosome assembly
  JOURNAL   Cell Rep 38 (13), 110597 (2022)
   PUBMED   35354024
  REMARK    GeneRIF: Labeling of heterochronic ribosomes reveals C1ORF109 and
            SPATA5 control a late step in human ribosome assembly.
REFERENCE   3  (residues 1 to 203)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 203)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 203)
  AUTHORS   Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V,
            MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG,
            Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ,
            Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E,
            Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell
            CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R,
            Tay WT, Zheng Y, Chew M, Burdon KP, Craig JE, Iyengar SK, Igo RP
            Jr, Lass JH Jr, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja
            J, Simpson CL, Wojciechowski R, Hohn R, Mirshahi A, Zeller T,
            Pfeiffer N, Lackner KJ, Bettecken T, Meitinger T, Oexle K, Pirastu
            M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE,
            Hosseini SM, Paterson AD, Makela KM, Lehtimaki T, Kahonen M,
            Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap
            MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai
            ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A,
            Uitterlinden AG, Bencic G, Khor CC, Forward H, Parssinen O,
            Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo
            YY, Hammond CJ, Stambolian D, Mackey DA, Klaver CC, Wong TY, Saw SM
            and Baird PN.
  CONSRTM   Consortium for Refractive Error and Myopia; Fuchs' Genetics
            Multi-Center Study Group; Wellcome Trust Case Control Consortium 2;
            Diabetes Control and Complications Trial/Epidemiology of Diabetes
            Interventions, and Complications Research Group
  TITLE     Nine loci for ocular axial length identified through genome-wide
            association studies, including shared loci with refractive error
  JOURNAL   Am J Hum Genet 93 (2), 264-277 (2013)
   PUBMED   24144296
REFERENCE   6  (residues 1 to 203)
  AUTHORS   Liu SS, Zheng HX, Jiang HD, He J, Yu Y, Qu YP, Yue L, Zhang Y and
            Li Y.
  TITLE     Identification and characterization of a novel gene, c1orf109,
            encoding a CK2 substrate that is involved in cancer cell
            proliferation
  JOURNAL   J Biomed Sci 19 (1), 49 (2012)
   PUBMED   22548824
  REMARK    GeneRIF: our findings suggest that C1ORF109 may be the downstream
            target of protein kinase CK2 and involved in the regulation of
            cancer cell proliferation.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 203)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   8  (residues 1 to 203)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB003989.1, AK000515.1, DA608785.1, AA307727.1 and BC018109.1.
            On Apr 22, 2017 this sequence version replaced XP_016857044.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1620482.1,
                                           SRR1803612.39223.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..203
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     Protein         1..203
                     /product="ribosome biogenesis protein C1orf109 isoform 3"
                     /note="uncharacterized protein C1orf109; ribosome
                     biogenesis protein C1orf109"
                     /calculated_mol_wt=23242
     Region          13..171
                     /region_name="CK2S"
                     /note="Casein Kinase 2 substrate; pfam15011"
                     /db_xref="CDD:434389"
     CDS             1..203
                     /gene="AIRIM"
                     /gene_synonym="C1orf109"
                     /coded_by="NM_001350766.2:325..936"
                     /note="isoform 3 is encoded by transcript variant 15"
                     /db_xref="CCDS:CCDS423.1"
                     /db_xref="GeneID:54955"
                     /db_xref="HGNC:HGNC:26039"
                     /db_xref="MIM:614799"
ORIGIN      
        1 mtqdrpllav qealkkcfpv veeqqglwqs alrdcqplls slsnlaeqlq aaqnlrfedv
       61 palrafpdlk erlrrkqlva gdivldklge rlaillkvrd mvsshvervf qiyeqhadtv
      121 gidavlqpsa vspsvadmle wlqdierhyr ksylkrkyll ssiqwgdlan iqalpkawdr
      181 iskdehqdlv qdillnvsff lee
//
LOCUS       NP_000951                386 aa            linear   PRI 09-JAN-2022
DEFINITION  prostacyclin receptor [Homo sapiens].
ACCESSION   NP_000951
VERSION     NP_000951.1
DBSOURCE    REFSEQ: accession NM_000960.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 386)
  AUTHORS   Georges A, Albuisson J, Berrandou T, Dupre D, Lorthioir A,
            D'Escamard V, Di Narzo AF, Kadian-Dodov D, Olin JW,
            Warchol-Celinska E, Prejbisz A, Januszewicz A, Bruneval P,
            Baranowska AA, Webb TR, Hamby SE, Samani NJ, Adlam D,
            Fendrikova-Mahlay N, Hazen S, Wang Y, Yang ML, Hunker K, Combaret
            N, Motreff P, Chedid A, Fiquet B, Plouin PF, Mousseaux E, Azarine
            A, Amar L, Azizi M, Gornik HL, Ganesh SK, Kovacic JC, Jeunemaitre X
            and Bouatia-Naji N.
  TITLE     Rare loss-of-function mutations of PTGIR are enriched in
            fibromuscular dysplasia
  JOURNAL   Cardiovasc Res 117 (4), 1154-1165 (2021)
   PUBMED   32531060
  REMARK    GeneRIF: Rare loss-of-function mutations of PTGIR are enriched in
            fibromuscular dysplasia.
REFERENCE   2  (residues 1 to 386)
  AUTHORS   Mulvaney EP, O'Meara F, Khan AR, O'Connell DJ and Kinsella BT.
  TITLE     Identification of alpha-helix 4 (alpha4) of Rab11a as a novel
            Rab11-binding domain (RBD): Interaction of Rab11a with the
            Prostacyclin Receptor
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1864 (10), 1819-1832 (2017)
   PUBMED   28739266
  REMARK    GeneRIF: these studies are not only the first to identify alpha4
            helix of Rab11a as a protein binding domain on the GTPase but also
            reveal novel mechanistic insights into the intracellular
            trafficking of the human prostacyclin receptor (hIP), and
            potentially of other members of the GPCR superfamily, involving
            Rab11-dependent mechanisms.
REFERENCE   3  (residues 1 to 386)
  AUTHORS   Eivers SB and Kinsella BT.
  TITLE     Regulated expression of the prostacyclin receptor (IP) gene by
            androgens within the vasculature: Combined role for androgens and
            serum cholesterol
  JOURNAL   Biochim Biophys Acta 1859 (10), 1333-1351 (2016)
   PUBMED   27365208
  REMARK    GeneRIF: The human prostacyclin receptor gene is under the
            transcriptional regulation of dihydrotestosterone, where this
            regulation is further influenced by serum-cholesterol levels.
REFERENCE   4  (residues 1 to 386)
  AUTHORS   Batchu SN, Majumder S, Bowskill BB, White KE, Advani SL, Brijmohan
            AS, Liu Y, Thai K, Azizi PM, Lee WL and Advani A.
  TITLE     Prostaglandin I2 Receptor Agonism Preserves beta-Cell Function and
            Attenuates Albuminuria Through Nephrin-Dependent Mechanisms
  JOURNAL   Diabetes 65 (5), 1398-1409 (2016)
   PUBMED   26868296
  REMARK    GeneRIF: Data (including data from studies using transgenic mice,
            an murine experimental model of diabetes, and mouse/human cell
            lines) suggest prostaglandin I2 receptor (PTGIR) is involved in
            insulin secretion in pancreatic beta-cells and in permselectivity
            in glomerular podocytes; the mechanism appears to involve
            regulation of post-translational phosphorylation of nephrin.
REFERENCE   5  (residues 1 to 386)
  AUTHORS   Ghandour RA, Giroud M, Vegiopoulos A, Herzig S, Ailhaud G, Amri EZ
            and Pisani DF.
  TITLE     IP-receptor and PPARs trigger the conversion of human white to
            brite adipocyte induced by carbaprostacyclin
  JOURNAL   Biochim Biophys Acta 1861 (4), 285-293 (2016)
   PUBMED   26775637
  REMARK    GeneRIF: cPGI2 generates via its cognate cell-surface receptor
            IP-R, converting white adipocytes to brite adipocytes.
REFERENCE   6  (residues 1 to 386)
  AUTHORS   Ogawa Y, Tanaka I, Inoue M, Yoshitake Y, Isse N, Nakagawa O, Usui
            T, Itoh H, Yoshimasa T, Narumiya S et al.
  TITLE     Structural organization and chromosomal assignment of the human
            prostacyclin receptor gene
  JOURNAL   Genomics 27 (1), 142-148 (1995)
   PUBMED   7665161
REFERENCE   7  (residues 1 to 386)
  AUTHORS   Duncan AM, Anderson LL, Funk CD, Abramovitz M and Adam M.
  TITLE     Chromosomal localization of the human prostanoid receptor gene
            family
  JOURNAL   Genomics 25 (3), 740-742 (1995)
   PUBMED   7759114
REFERENCE   8  (residues 1 to 386)
  AUTHORS   Nakagawa O, Tanaka I, Usui T, Harada M, Sasaki Y, Itoh H, Yoshimasa
            T, Namba T, Narumiya S and Nakao K.
  TITLE     Molecular cloning of human prostacyclin receptor cDNA and its gene
            expression in the cardiovascular system
  JOURNAL   Circulation 90 (4), 1643-1647 (1994)
   PUBMED   7923647
REFERENCE   9  (residues 1 to 386)
  AUTHORS   Katsuyama M, Sugimoto Y, Namba T, Irie A, Negishi M, Narumiya S and
            Ichikawa A.
  TITLE     Cloning and expression of a cDNA for the human prostacyclin
            receptor
  JOURNAL   FEBS Lett 344 (1), 74-78 (1994)
   PUBMED   7514139
REFERENCE   10 (residues 1 to 386)
  AUTHORS   Boie Y, Rushmore TH, Darmon-Goodwin A, Grygorczyk R, Slipetz DM,
            Metters KM and Abramovitz M.
  TITLE     Cloning and expression of a cDNA for the human prostanoid IP
            receptor
  JOURNAL   J Biol Chem 269 (16), 12173-12178 (1994)
   PUBMED   7512962
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA652875.1, D25418.1 and
            BQ185457.1.
            
            Summary: The protein encoded by this gene is a member of the
            G-protein coupled receptor family 1 and has been shown to be a
            receptor for prostacyclin. Prostacyclin, the major product of
            cyclooxygenase in macrovascular endothelium, elicits a potent
            vasodilation and inhibition of platelet aggregation through binding
            to this receptor. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC110342.1, BC075814.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153307, SAMEA2155751
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291294.7/ ENSP00000291294.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..386
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     Protein         1..386
                     /product="prostacyclin receptor"
                     /note="prostanoid IP receptor; PGI receptor; PGI2
                     receptor; prostaglandin I2 (prostacyclin) receptor (IP)"
                     /calculated_mol_wt=40825
     Region          14..304
                     /region_name="7tm_GPCRs"
                     /note="seven-transmembrane G protein-coupled receptor
                     superfamily; cl28897"
                     /db_xref="CDD:452889"
     Region          16..40
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:410628"
     Region          50..72
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:410628"
     Region          93..115
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:410628"
     Region          138..154
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:410628"
     Region          181..204
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:410628"
     Region          238..260
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:410628"
     Region          271..296
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:410628"
     CDS             1..386
                     /gene="PTGIR"
                     /gene_synonym="IP; PRIPR"
                     /coded_by="NM_000960.4:106..1266"
                     /db_xref="CCDS:CCDS12686.1"
                     /db_xref="GeneID:5739"
                     /db_xref="HGNC:HGNC:9602"
                     /db_xref="MIM:600022"
ORIGIN      
        1 madscrnlty vrgsvgpats tlmfvagvvg nglalgilsa rrparpsafa vlvtglaatd
       61 llgtsflspa vfvayarnss llglarggpa lcdafafamt ffglasmlil famavercla
      121 lshpylyaql dgprcarlal paiyafcvlf calpllglgq hqqycpgswc flrmrwaqpg
      181 gaafslayag lvallvaaif lcngsvtlsl crmyrqqkrh qgslgprprt gedevdhlil
      241 lalmtvvmav cslpltircf tqavapdsss emgdllafrf yafnpildpw vfilfrkavf
      301 qrlklwvccl clgpahgdsq tplsqlasgr rdprapsapv gkegscvpls awgegqvepl
      361 pptqqssgsa vgtsskaeas vacslc
//
LOCUS       NP_055763                541 aa            linear   PRI 25-DEC-2022
DEFINITION  RING finger protein 37 isoform a [Homo sapiens].
ACCESSION   NP_055763
VERSION     NP_055763.1
DBSOURCE    REFSEQ: accession NM_014948.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 541)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 541)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 541)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 541)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (residues 1 to 541)
  AUTHORS   Daakour S, Hajingabo LJ, Kerselidou D, Devresse A, Kettmann R,
            Simonis N, Dequiedt F and Twizere JC.
  TITLE     Systematic interactome mapping of acute lymphoblastic leukemia
            cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and
            FBWX7 common interactor
  JOURNAL   BMC Cancer 16, 335 (2016)
   PUBMED   27229929
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 541)
  AUTHORS   Marin I.
  TITLE     Ancient origin of animal U-box ubiquitin ligases
  JOURNAL   BMC Evol Biol 10, 331 (2010)
   PUBMED   20979629
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 541)
  AUTHORS   Pringa E, Martinez-Noel G, Muller U and Harbers K.
  TITLE     Interaction of the ring finger-related U-box motif of a nuclear dot
            protein with ubiquitin-conjugating enzymes
  JOURNAL   J Biol Chem 276 (22), 19617-19623 (2001)
   PUBMED   11274149
REFERENCE   8  (residues 1 to 541)
  AUTHORS   Martinez-Noel G, Niedenthal R, Tamura T and Harbers K.
  TITLE     A family of structurally related RING finger proteins interacts
            specifically with the ubiquitin-conjugating enzyme UbcM4
  JOURNAL   FEBS Lett 454 (3), 257-261 (1999)
   PUBMED   10431818
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB020667.1, AL121891.22 and
            BM992259.1.
            
            Summary: This gene encodes a U-box domain containing protein. The
            encoded protein interacts with E2 enzymes and may play a role in
            the ubiquitination pathway. Alternate splicing results in multiple
            transcript variants. [provided by RefSeq, Jun 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB020667.1, SRR1660809.99974.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000217173.7/ ENSP00000217173.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..541
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     Protein         1..541
                     /product="RING finger protein 37 isoform a"
                     /EC_number="2.3.2.27"
                     /note="ring finger protein 37; RING-type E3 ubiquitin
                     transferase RNF37; ubiquitin conjugating enzyme 7
                     interacting protein 5; U-box domain-containing protein 5;
                     ubcM4-interacting protein 5"
                     /calculated_mol_wt=58835
     Region          4..217
                     /region_name="DUF5918"
                     /note="Family of unknown function (DUF5918); pfam19318"
                     /db_xref="CDD:437150"
     Region          260..312
                     /region_name="RING-Ubox_RNF37"
                     /note="U-box domain, a modified RING finger, found in RING
                     finger protein 37 (RNF37); cd16660"
                     /db_xref="CDD:438322"
     Site            451
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (O94941.1)"
     Region          481..532
                     /region_name="RING-HC_RNF37"
                     /note="RING finger, HC subclass, found in RING finger
                     protein 37 (RNF37); cd16537"
                     /db_xref="CDD:438199"
     CDS             1..541
                     /gene="UBOX5"
                     /gene_synonym="hUIP5; RNF37; UBCE7IP5; UIP5"
                     /coded_by="NM_014948.4:142..1767"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13046.1"
                     /db_xref="GeneID:22888"
                     /db_xref="HGNC:HGNC:17777"
                     /db_xref="MIM:619675"
ORIGIN      
        1 mvinlclpqf rprihcnkis adgyevenli sedltkrshg frteyfikpp vyvtvsfpfn
       61 veicrinidl tagggqnvtg lemytsasss rvswntpqcr tlgpaepsvp dkeaftlvgk
      121 vllknqsqvv fshrgfkarp pfgameatlp spavvaqelw nkgalslshv ahlricithv
      181 tgggipcikr levwgqpakt csqevidsil lvtsenlpqd valqapalpm esdcdpgdqp
      241 esqqapsslq klaeiiqdvp eefldpitle impcpmllps gkvidqstle kcnrseatwg
      301 rvpsdpftgv aftphsqplp hpslkaridh fllqhsipgc hllgraqtal avipssivlp
      361 sqkrkieqae hvpdsnfgvn ascfsatspl vlpttsehta kkmkatneps lthmdcstgp
      421 lsheqklsqs leialastlg smpsftarlt rgqlqhlgtr gsntswrpgt gseqpgsilg
      481 pecasckrvf spyfkkepvy qlpcghllcr pclgekqrsl pmtctacqrp vasqdvlrvh
      541 f
//
LOCUS       NP_001341117             821 aa            linear   PRI 25-DEC-2022
DEFINITION  protein bicaudal D homolog 1 isoform 5 [Homo sapiens].
ACCESSION   NP_001341117 XP_006719197
VERSION     NP_001341117.1
DBSOURCE    REFSEQ: accession NM_001354188.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 821)
  AUTHORS   Jiang Y, Yao B, Chen T, Mo H, Chen S, Liu Q and Sun Y.
  TITLE     BICD1 functions as a prognostic biomarker and promotes
            hepatocellular carcinoma progression
  JOURNAL   Pathol Res Pract 216 (4), 152858 (2020)
   PUBMED   32088084
  REMARK    GeneRIF: BICD1 functions as a prognostic biomarker and promotes
            hepatocellular carcinoma progression.
REFERENCE   2  (residues 1 to 821)
  AUTHORS   Kim HJ, Seo YS, Sung J, Chae J, Yun JM, Kwon H, Cho B, Kim JI and
            Park JH.
  TITLE     A genome-wide by PM10 interaction study identifies novel loci for
            lung function near BICD1 and IL1RN-IL1F10 genes in Korean adults
  JOURNAL   Chemosphere 245, 125581 (2020)
   PUBMED   31846791
  REMARK    GeneRIF: BICD1 genes may contribute to the decrease in forced vital
            capacity levels by interacting with PM10 exposure
REFERENCE   3  (residues 1 to 821)
  AUTHORS   Atkins M, Gasmi L, Bercier V, Revenu C, Del Bene F, Hazan J and
            Fassier C.
  TITLE     FIGNL1 associates with KIF1Bbeta and BICD1 to restrict dynein
            transport velocity during axon navigation
  JOURNAL   J Cell Biol 218 (10), 3290-3306 (2019)
   PUBMED   31541015
  REMARK    GeneRIF: The disrupting Bicd1/Fignl1 interaction induced motor axon
            pathfinding defects characteristic of Fignl1 gain or loss of
            function, respectively.
REFERENCE   4  (residues 1 to 821)
  AUTHORS   Lee HJ, Jung YH, Oh JY, Choi GE, Chae CW, Kim JS, Lim JR, Kim SY,
            Lee SJ, Seong JK and Han HJ.
  TITLE     BICD1 mediates HIF1alpha nuclear translocation in mesenchymal stem
            cells during hypoxia adaptation
  JOURNAL   Cell Death Differ 26 (9), 1716-1734 (2019)
   PUBMED   30464225
  REMARK    GeneRIF: BICD1 mediates HIF1alpha nuclear translocation in
            mesenchymal stem cells during hypoxia adaptation.
REFERENCE   5  (residues 1 to 821)
  AUTHORS   Hoogenraad CC and Akhmanova A.
  TITLE     Bicaudal D Family of Motor Adaptors: Linking Dynein Motility to
            Cargo Binding
  JOURNAL   Trends Cell Biol 26 (5), 327-340 (2016)
   PUBMED   26822037
  REMARK    Review article
REFERENCE   6  (residues 1 to 821)
  AUTHORS   Tomsig JL, Snyder SL and Creutz CE.
  TITLE     Identification of targets for calcium signaling through the copine
            family of proteins. Characterization of a coiled-coil
            copine-binding motif
  JOURNAL   J Biol Chem 278 (12), 10048-10054 (2003)
   PUBMED   12522145
REFERENCE   7  (residues 1 to 821)
  AUTHORS   Matanis T, Akhmanova A, Wulf P, Del Nery E, Weide T, Stepanova T,
            Galjart N, Grosveld F, Goud B, De Zeeuw CI, Barnekow A and
            Hoogenraad CC.
  TITLE     Bicaudal-D regulates COPI-independent Golgi-ER transport by
            recruiting the dynein-dynactin motor complex
  JOURNAL   Nat Cell Biol 4 (12), 986-992 (2002)
   PUBMED   12447383
  REMARK    Erratum:[Nat Cell Biol. 2003 Jan;5(1):84.]
REFERENCE   8  (residues 1 to 821)
  AUTHORS   Short B, Preisinger C, Schaletzky J, Kopajtich R and Barr FA.
  TITLE     The Rab6 GTPase regulates recruitment of the dynactin complex to
            Golgi membranes
  JOURNAL   Curr Biol 12 (20), 1792-1795 (2002)
   PUBMED   12401177
REFERENCE   9  (residues 1 to 821)
  AUTHORS   Baens M and Marynen P.
  TITLE     A human homologue (BICD1) of the Drosophila bicaudal-D gene
  JOURNAL   Genomics 45 (3), 601-606 (1997)
   PUBMED   9367685
REFERENCE   10 (residues 1 to 821)
  AUTHORS   Baens M, Aerssens J, van Zand K, Van den Berghe H and Marynen P.
  TITLE     Isolation and regional assignment of human chromosome 12p cDNAs
  JOURNAL   Genomics 29 (1), 44-52 (1995)
   PUBMED   8530100
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC048344.44, AC016954.43,
            AC026356.29 and AC087245.29.
            On Aug 29, 2017 this sequence version replaced XP_006719197.1.
            
            Summary: This gene encodes an adaptor protein that belongs to the
            bicaudal D family of dynein cargo adaptors. The encoded protein
            acts as an intracellular cargo transport cofactor that regulates
            the microtubule-based loading of cargo onto the dynein motor
            complex. It also controls dynein motor activity and coordination.
            It has a domain architecture consisting of coiled-coil domains at
            the N- and C-termini that are highly conserved in other family
            members. Naturally occurring mutations in this gene are associated
            with short telomere length and emphysema. [provided by RefSeq, Aug
            2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.231922.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..821
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     Protein         1..821
                     /product="protein bicaudal D homolog 1 isoform 5"
                     /note="cytoskeleton-like bicaudal D protein homolog 1;
                     bicaudal D homolog 1"
                     /calculated_mol_wt=94023
     Region          74..799
                     /region_name="BicD"
                     /note="Microtubule-associated protein Bicaudal-D;
                     pfam09730"
                     /db_xref="CDD:430782"
     Region          383..403
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96G01.3)"
     Region          545..616
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96G01.3)"
     Region          663..803
                     /region_name="Interaction with RAB6A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96G01.3)"
     CDS             1..821
                     /gene="BICD1"
                     /gene_synonym="bic-D 1; BICD"
                     /coded_by="NM_001354188.2:486..2951"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:636"
                     /db_xref="HGNC:HGNC:1049"
                     /db_xref="MIM:602204"
ORIGIN      
        1 maaeevlqtv dhykteierl tkeltetthe kiqaaeyglv vleekltlkq qydeleaeyd
       61 slkqeleqlk eafgqsfsih rkvaedgetr eetllqesas keayylgkil emqnelkqsr
      121 avvtnvqaen erltavvqdl kennemvelq rirmkdeire ykfrearllq dyteleeeni
      181 tlqklvstlk qnqveyeglk heikrfeeet vllnsqleda irlkeiaehq leealetlkn
      241 ereqknnlrk elsqyislnd nhisisvdgl kfaedgsepn nddkmnghih gplvklngdy
      301 rtptlrkges lnpvsdlfse lniseiqklk qqlmqverek aillanlqes qtqlehtkga
      361 lteqhervhr ltehvnamrg lqsskelkae ldgekgrdsg eeahdyevdi ngleilecky
      421 rvavtevidl kaeikalkek ynksvenytd ekakyeskiq mydeqvtsle kttkesgekm
      481 ahmekelqkm tsianenhst lntaqdelvt fseelaqlyh hvclcnnetp nrvmldyyrq
      541 srvtrsgslk gpddprglls prlarrgvss pvetrtssep vakesteask epsptktpti
      601 spvitappss pvldtsdirk epmniynlna iirdqikhlq kavdrslqls rqraaarela
      661 pmidkdkeal meeilklksl lstkreqiat lravlkankq taevalanlk nkyenekamv
      721 tetmtklrne lkalkedaat fsslramfat rcdeyvtqld emqrqlaaae dekktlntll
      781 rmaiqqklal tqrledlefd heqsrrskgk lgkskigspk s
//
LOCUS       NP_114430                193 aa            linear   PRI 25-DEC-2022
DEFINITION  neurocalcin-delta [Homo sapiens].
ACCESSION   NP_114430
VERSION     NP_114430.2
DBSOURCE    REFSEQ: accession NM_032041.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 193)
  AUTHORS   Dong C, Yin F, Zhu D, Cai X, Chen C and Liu X.
  TITLE     NCALD affects drug resistance and prognosis by acting as a ceRNA of
            CX3CL1 in ovarian cancer
  JOURNAL   J Cell Biochem 121 (11), 4470-4483 (2020)
   PUBMED   32030795
  REMARK    GeneRIF: NCALD affects drug resistance and prognosis by acting as a
            ceRNA of CX3CL1 in ovarian cancer.
REFERENCE   2  (residues 1 to 193)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 193)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 193)
  AUTHORS   Feng LY and Li L.
  TITLE     Low expression of NCALD is associated with chemotherapy resistance
            and poor prognosis in epithelial ovarian cancer
  JOURNAL   J Ovarian Res 13 (1), 35 (2020)
   PUBMED   32228639
  REMARK    GeneRIF: Low expression of NCALD is associated with chemotherapy
            resistance and poor prognosis in epithelial ovarian cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 193)
  AUTHORS   Song Y, Zhang W, He X, Liu X, Yang P, Wang J, Hu K, Liu W, Zhang X,
            Jing H and Yuan X.
  TITLE     High NCALD expression predicts poor prognosis of cytogenetic normal
            acute myeloid leukemia
  JOURNAL   J Transl Med 17 (1), 166 (2019)
   PUBMED   31109331
  REMARK    GeneRIF: high expression of NCALD gene is a poor prognostic factor
            for cytogenetic normal acute myeloid leukemia.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 193)
  AUTHORS   O'Callaghan DW, Ivings L, Weiss JL, Ashby MC, Tepikin AV and
            Burgoyne RD.
  TITLE     Differential use of myristoyl groups on neuronal calcium sensor
            proteins as a determinant of spatio-temporal aspects of Ca2+ signal
            transduction
  JOURNAL   J Biol Chem 277 (16), 14227-14237 (2002)
   PUBMED   11836243
REFERENCE   7  (residues 1 to 193)
  AUTHORS   Wang W, Zhou Z, Zhao W, Huang Y, Tang R, Ying K, Xie Y and Mao Y.
  TITLE     Molecular cloning, mapping and characterization of the human
            neurocalcin delta gene (NCALD)
  JOURNAL   Biochim Biophys Acta 1518 (1-2), 162-167 (2001)
   PUBMED   11267673
REFERENCE   8  (residues 1 to 193)
  AUTHORS   Burgoyne RD and Weiss JL.
  TITLE     The neuronal calcium sensor family of Ca2+-binding proteins
  JOURNAL   Biochem J 353 (Pt 1), 1-12 (2001)
   PUBMED   11115393
  REMARK    Review article
            Erratum:[Biochem J 2001 Mar 15;354(Pt 3):727]
REFERENCE   9  (residues 1 to 193)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (residues 1 to 193)
  AUTHORS   Ladant D.
  TITLE     Calcium and membrane binding properties of bovine neurocalcin delta
            expressed in Escherichia coli
  JOURNAL   J Biol Chem 270 (7), 3179-3185 (1995)
   PUBMED   7852401
  REMARK    GeneRIF: The author characterizes the biochemical properties of
            recombinant bovine neurocalcin delta, whose protein sequence is
            identical to the human ortholog
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA211806.1, AL136612.1,
            AP000426.3, BC063428.1 and BM681731.1.
            On May 18, 2006 this sequence version replaced NP_114430.1.
            
            Summary: This gene encodes a member of the neuronal calcium sensor
            (NCS) family of calcium-binding proteins. The protein contains an
            N-terminal myristoylation signal and four EF-hand calcium binding
            loops. The protein is cytosolic at resting calcium levels; however,
            elevated intracellular calcium levels induce a conformational
            change that exposes the myristoyl group, resulting in protein
            association with membranes and partial co-localization with the
            perinuclear trans-golgi network. The protein is thought to be a
            regulator of G protein-coupled receptor signal transduction.
            Several alternatively spliced variants of this gene have been
            determined, all of which encode the same protein; additional
            variants may exist but their biological validity has not been
            determined. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (8) differs in the 5' UTR compared
            to variant 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.118176.1,
                                           SRR1803615.97054.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000220931.11/ ENSP00000220931.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..193
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.3"
     Protein         1..193
                     /product="neurocalcin-delta"
                     /calculated_mol_wt=22114
     Region          14..179
                     /region_name="FRQ1"
                     /note="Ca2+-binding protein, EF-hand superfamily [Signal
                     transduction mechanisms]; COG5126"
                     /db_xref="CDD:227455"
     CDS             1..193
                     /gene="NCALD"
                     /coded_by="NM_032041.3:128..709"
                     /db_xref="CCDS:CCDS6292.1"
                     /db_xref="GeneID:83988"
                     /db_xref="HGNC:HGNC:7655"
                     /db_xref="MIM:606722"
ORIGIN      
        1 mgkqnsklrp evmqdllest dfteheiqew ykgflrdcps ghlsmeefkk iygnffpygd
       61 askfaehvfr tfdangdgti dfrefiials vtsrgkleqk lkwafsmydl dgngyiskae
      121 mleivqaiyk mvssvmkmpe destpekrte kifrqmdtnr dgklsleefi rgaksdpsiv
      181 rllqcdpssa gqf
//
LOCUS       NP_001354431             537 aa            linear   PRI 25-DEC-2022
DEFINITION  cytochrome P450 27C1 isoform 2 [Homo sapiens].
ACCESSION   NP_001354431 XP_016859449
VERSION     NP_001354431.1
DBSOURCE    REFSEQ: accession NM_001367502.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 537)
  AUTHORS   Mo HY, Wei QY, Zhong QH, Zhao XY, Guo D, Han J, Noracharttiyapot W,
            Visser L, van den Berg A, Xu YM and Lau ATY.
  TITLE     Cytochrome P450 27C1 Level Dictates Lung Cancer Tumorigenicity and
            Sensitivity towards Multiple Anticancer Agents and Its Potential
            Interplay with the IGF-1R/Akt/p53 Signaling Pathway
  JOURNAL   Int J Mol Sci 23 (14), 7853 (2022)
   PUBMED   35887201
  REMARK    GeneRIF: Cytochrome P450 27C1 Level Dictates Lung Cancer
            Tumorigenicity and Sensitivity towards Multiple Anticancer Agents
            and Its Potential Interplay with the IGF-1R/Akt/p53 Signaling
            Pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 537)
  AUTHORS   Johnson KM, Phan TTN, Albertolle ME and Guengerich FP.
  TITLE     Human mitochondrial cytochrome P450 27C1 is localized in skin and
            preferentially desaturates trans-retinol to 3,4-dehydroretinol
  JOURNAL   J Biol Chem 292 (33), 13672-13687 (2017)
   PUBMED   28701464
  REMARK    GeneRIF: Data suggest that the most likely catalytic mechanism for
            conversion of all-trans-retinol to 3,4-dehydroretinol by CYP27C1
            begins with abstraction of a hydrogen atom from C-4 (or possibly
            C-3) initiating desaturation pathway, followed by sequential
            abstraction of a hydrogen atom or proton-coupled electron transfer.
            CYP27C1 appears to be localized to skin.
REFERENCE   3  (residues 1 to 537)
  AUTHORS   Kramlinger VM, Nagy LD, Fujiwara R, Johnson KM, Phan TT, Xiao Y,
            Enright JM, Toomey MB, Corbo JC and Guengerich FP.
  TITLE     Human cytochrome P450 27C1 catalyzes 3,4-desaturation of retinoids
  JOURNAL   FEBS Lett 590 (9), 1304-1312 (2016)
   PUBMED   27059013
REFERENCE   4  (residues 1 to 537)
  AUTHORS   Munir MS, Weng LC, Tang W, Basu S, Pankow JS, Matijevic N, Cushman
            M, Boerwinkle E and Folsom AR.
  TITLE     Genetic markers associated with plasma protein C level in African
            Americans: the atherosclerosis risk in communities (ARIC) study
  JOURNAL   Genet Epidemiol 38 (8), 709-713 (2014)
   PUBMED   25376901
REFERENCE   5  (residues 1 to 537)
  AUTHORS   Mosing MA, Verweij KJ, Medland SE, Painter J, Gordon SD, Heath AC,
            Madden PA, Montgomery GW and Martin NG.
  TITLE     A genome-wide association study of self-rated health
  JOURNAL   Twin Res Hum Genet 13 (4), 398-403 (2010)
   PUBMED   20707712
REFERENCE   6  (residues 1 to 537)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert
            DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC110926.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 5, 2018 this sequence version replaced XP_016859449.1.
            
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2147596,
                              SAMEA2156099 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            inferred exon combination        :: based on alignments, homology
            MANE Ensembl match               :: ENST00000664447.2/
                                                ENSP00000499243.1
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression,
                                                longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..537
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.3"
     Protein         1..537
                     /product="cytochrome P450 27C1 isoform 2"
                     /EC_number="1.14.19.53"
                     /note="cytochrome P450, family 27, subfamily C,
                     polypeptide 13; cytochrome P450 27C1; all-trans retinol
                     3,4-desaturase"
                     /calculated_mol_wt=60271
     Region          98..530
                     /region_name="CYP27C1"
                     /note="cytochrome P450 family 27, subfamily C, polypeptide
                     1, also called all-trans retinol 3,4-desaturase; cd20647"
                     /db_xref="CDD:410740"
     Site            order(136,142,156,215..216,219,254,256..257,288,341,
                     344..345,348..349,409..414,521..522)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:410740"
     Site            order(136,155..156,163,167,342,345..346,349..350,353,404,
                     409..410,413,415,475..478,481..485,489)
                     /site_type="other"
                     /note="heme binding site [chemical binding]"
                     /db_xref="CDD:410740"
     CDS             1..537
                     /gene="CYP27C1"
                     /coded_by="NM_001367502.1:30..1643"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS92857.1"
                     /db_xref="GeneID:339761"
                     /db_xref="HGNC:HGNC:33480"
ORIGIN      
        1 mallarilra glrpapergg llgggaprrp qpagarlpag araedkgagr pgsppgggra
       61 egprslaamp gprtlanlae ffcrdgfsri heiqqkhtre ygkifkshfg pqfvvsiadr
      121 dmvaqvlrae gaapqranme swreyrdlrg ratglisaeg eqwlkmrsvl rqrilkpkdv
      181 aiysgevnqv iadlikriyl lrsqaedget vtnvndlffk ysmegvatil yesrlgclen
      241 sipqltveyi ealelmfsmf ktsmyagaip rwlrpfipkp wrefcrswdg lfkfsqihvd
      301 nklrdiqyqm drgrrvsggl ltylflsqal tlqeiyanvt emllagvdtt sftlswtvyl
      361 larhpevqqt vyreivknlg erhvptaadv pkvplvrall ketlrlfpvl pgngrvtqed
      421 lviggylipk gtqlalchya tsyqdenfpr akefrperwl rkgdldrvdn fgsipfghgv
      481 rscigrriae leihlvviql lqhfeiktss qtnavhakth glltpggpih vrfvnrk
//
LOCUS       NP_997239                243 aa            linear   PRI 25-DEC-2022
DEFINITION  UPF0688 protein C1orf174 [Homo sapiens].
ACCESSION   NP_997239
VERSION     NP_997239.2
DBSOURCE    REFSEQ: accession NM_207356.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 243)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   2  (residues 1 to 243)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 243)
  AUTHORS   Ingham NJ, Rook V, Di Domenico F, James E, Lewis MA, Girotto G,
            Buniello A and Steel KP.
  TITLE     Functional analysis of candidate genes from genome-wide association
            studies of hearing
  JOURNAL   Hear Res 387, 107879 (2020)
   PUBMED   31927188
REFERENCE   4  (residues 1 to 243)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 243)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (residues 1 to 243)
  AUTHORS   Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
            Safari A, Liu D and Songyang Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   7  (residues 1 to 243)
  AUTHORS   Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H,
            Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff
            S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksoz E, Droege A,
            Krobitsch S, Korn B, Birchmeier W, Lehrach H and Wanker EE.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC067302.1 and AL691523.6.
            On Mar 6, 2009 this sequence version replaced NP_997239.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC067302.1, SRR5189658.90011.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361605.4/ ENSP00000355306.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..243
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.32"
     Protein         1..243
                     /product="UPF0688 protein C1orf174"
                     /note="RP13-531C17.2"
                     /calculated_mol_wt=25846
     Region          6..231
                     /region_name="UPF0688"
                     /note="UPF0688 family; pfam15772"
                     /db_xref="CDD:434925"
     Region          78..100
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYL3.2)"
     Region          132..243
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYL3.2)"
     Site            148
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8IYL3.2)"
     Site            189
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IYL3.2)"
     CDS             1..243
                     /gene="C1orf174"
                     /coded_by="NM_207356.3:87..818"
                     /db_xref="CCDS:CCDS53.1"
                     /db_xref="GeneID:339448"
                     /db_xref="HGNC:HGNC:27915"
ORIGIN      
        1 mrsrkltgav rssarlkars csaarlasaq evagstsakt acltssshka tdtrtskkfk
       61 cdkghlvkse lqklvpknds aslpkvtpet pcenefaegs allpgseagv svqqgaaslp
      121 lggcrvvsds rlaktrdgls vpkhsagsga eesnssstvq kqnepglqte dvqkpplqmd
      181 nsvfldddsn qpmpvsrffg nvelmqdlpp assscpsmsr refrkmhfra kddddddddd
      241 aem
//
LOCUS       NP_001309229             405 aa            linear   PRI 26-DEC-2022
DEFINITION  SID1 transmembrane family member 1 isoform 9 [Homo sapiens].
ACCESSION   NP_001309229
VERSION     NP_001309229.1
DBSOURCE    REFSEQ: accession NM_001322300.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 405)
  AUTHORS   Mendez-Acevedo KM, Valdes VJ, Asanov A and Vaca L.
  TITLE     A novel family of mammalian transmembrane proteins involved in
            cholesterol transport
  JOURNAL   Sci Rep 7 (1), 7450 (2017)
   PUBMED   28785058
  REMARK    GeneRIF: In silico analysis identified SIDT1 and SIDT2 sharing
            identity and conserved cholesterol binding (CRAC) domains with C.
            elegans ChUP-1. Further evidence indicate that SIDT1 and SIDT2 not
            only do not transport RNA, but they are involved in cholesterol
            transport. Single point mutations in the CRAC domains of both
            proteins prevent FRET between SIDT1, SIDT2 and dehydroergosterol
            and alter cholesterol transport.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 405)
  AUTHORS   Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA,
            Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J,
            Jugurnauth-Little S, Dadaev T, Neal DE, Hamdy FC, Donovan JL, Muir
            K, Giles GG, Severi G, Wiklund F, Gronberg H, Haiman CA, Schumacher
            F, Henderson BE, Le Marchand L, Lindstrom S, Kraft P, Hunter DJ,
            Gapstur S, Chanock SJ, Berndt SI, Albanes D, Andriole G, Schleutker
            J, Weischer M, Canzian F, Riboli E, Key TJ, Travis RC, Campa D,
            Ingles SA, John EM, Hayes RB, Pharoah PD, Pashayan N, Khaw KT,
            Stanford JL, Ostrander EA, Signorello LB, Thibodeau SN, Schaid D,
            Maier C, Vogel W, Kibel AS, Cybulski C, Lubinski J, Cannon-Albright
            L, Brenner H, Park JY, Kaneva R, Batra J, Spurdle AB, Clements JA,
            Teixeira MR, Dicks E, Lee A, Dunning AM, Baynes C, Conroy D,
            Maranian MJ, Ahmed S, Govindasami K, Guy M, Wilkinson RA, Sawyer
            EJ, Morgan A, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker
            CC, Van As NJ, Woodhouse CJ, Thompson A, Dudderidge T, Ogden C,
            Cooper CS, Lophatananon A, Cox A, Southey MC, Hopper JL, English
            DR, Aly M, Adolfsson J, Xu J, Zheng SL, Yeager M, Kaaks R, Diver
            WR, Gaudet MM, Stern MC, Corral R, Joshi AD, Shahabi A, Wahlfors T,
            Tammela TL, Auvinen A, Virtamo J, Klarskov P, Nordestgaard BG,
            Roder MA, Nielsen SF, Bojesen SE, Siddiq A, Fitzgerald LM, Kolb S,
            Kwon EM, Karyadi DM, Blot WJ, Zheng W, Cai Q, McDonnell SK,
            Rinckleb AE, Drake B, Colditz G, Wokolorczyk D, Stephenson RA,
            Teerlink C, Muller H, Rothenbacher D, Sellers TA, Lin HY, Slavov C,
            Mitev V, Lose F, Srinivasan S, Maia S, Paulo P, Lange E, Cooney KA,
            Antoniou AC, Vincent D, Bacot F, Tessier DC, Kote-Jarai Z and
            Easton DF.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391e3912 (2013)
   PUBMED   23535732
REFERENCE   3  (residues 1 to 405)
  AUTHORS   Wang X, Shaffer JR, Zeng Z, Begum F, Vieira AR, Noel J, Anjomshoaa
            I, Cuenco KT, Lee MK, Beck J, Boerwinkle E, Cornelis MC, Hu FB,
            Crosslin DR, Laurie CC, Nelson SC, Doheny KF, Pugh EW, Polk DE,
            Weyant RJ, Crout R, McNeil DW, Weeks DE, Feingold E and Marazita
            ML.
  TITLE     Genome-wide association scan of dental caries in the permanent
            dentition
  JOURNAL   BMC Oral Health 12, 57 (2012)
   PUBMED   23259602
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 405)
  AUTHORS   Elhassan MO, Christie J and Duxbury MS.
  TITLE     Homo sapiens systemic RNA interference-defective-1 transmembrane
            family member 1 (SIDT1) protein mediates contact-dependent small
            RNA transfer and microRNA-21-driven chemoresistance
  JOURNAL   J Biol Chem 287 (8), 5267-5277 (2012)
   PUBMED   22174421
  REMARK    GeneRIF: SIDT1, facilitates rapid, contact-dependent, bidirectional
            small RNA transfer between human cells, resulting in
            target-specific non-cell-autonomous RNAi
REFERENCE   5  (residues 1 to 405)
  AUTHORS   Pratt AJ, Rambo RP, Lau PW and MacRae IJ.
  TITLE     Preparation and characterization of the extracellular domain of
            human Sid-1
  JOURNAL   PLoS One 7 (4), e33607 (2012)
   PUBMED   22509261
  REMARK    GeneRIF: characterization of Sid-1 extracellular domain
REFERENCE   6  (residues 1 to 405)
  AUTHORS   Duxbury MS, Ashley SW and Whang EE.
  TITLE     RNA interference: a mammalian SID-1 homologue enhances siRNA uptake
            and gene silencing efficacy in human cells
  JOURNAL   Biochem Biophys Res Commun 331 (2), 459-463 (2005)
   PUBMED   15850781
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC112128.4, AC055740.17 and
            AI004220.1.
            
            Summary: The protein encoded by this gene belongs to SID1 family of
            transmembrane dsRNA-gated channels. Family members transport dsRNA
            into cells and are required for systemic RNA interference.
            [provided by RefSeq, May 2017].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..405
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.2"
     Protein         1..405
                     /product="SID1 transmembrane family member 1 isoform 9"
                     /calculated_mol_wt=46497
     Region          <12..384
                     /region_name="SID-1_RNA_chan"
                     /note="dsRNA-gated channel SID-1; pfam13965"
                     /db_xref="CDD:433611"
     CDS             1..405
                     /gene="SIDT1"
                     /gene_synonym="SID-1; SID1"
                     /coded_by="NM_001322300.2:1646..2863"
                     /note="isoform 9 is encoded by transcript variant 9"
                     /db_xref="GeneID:54847"
                     /db_xref="HGNC:HGNC:25967"
                     /db_xref="MIM:606816"
ORIGIN      
        1 mqergednwr nknhiisfwn iitiavfyal pviqlvityq tvvnvtgnqd icyynflcah
       61 plgvlsafnn ilsnlghvll gflfllivlr rdilhrrale akdifaveyg ipkhfglfya
      121 mgialmmegv lsacyhvcpn ysnfqfdtsf mymiaglcml klyqtrhpdi nasaysayas
      181 favvimvtvl gvvfgkndvw fwvifsaihv laslalstqi yymgrfkidv sdtdlgifrr
      241 aamvfytdci qqcsrplymd rmvllvvgnl vnwsfalfgl iyrprdfasy mlgificnll
      301 lylafyiimk lrssekvlpv plfcivatav mwaaalyfff qnlsswegtp aesreknrec
      361 illdffddhd iwhflsatal ffsflvlltl dddldvvrrd qipvf
//
LOCUS       NP_001276977             523 aa            linear   PRI 26-DEC-2022
DEFINITION  atlastin-3 isoform 2 [Homo sapiens].
ACCESSION   NP_001276977 XP_005273948
VERSION     NP_001276977.1
DBSOURCE    REFSEQ: accession NM_001290048.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 523)
  AUTHORS   Cintra VP, Dohrn MF, Tomaselli PJ, Figueiredo FB, Marques SE,
            Camargos ST, Barbosa LSM, P Rebelo A, Abreu L, Danzi M, Marques W
            Jr and Zuchner S.
  TITLE     Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary
            sensory neuropathy and congenital insensitivity to pain in a
            Brazilian cohort
  JOURNAL   J Neurol Sci 427, 117498 (2021)
   PUBMED   34090020
  REMARK    GeneRIF: Rare mutations in ATL3, SPTLC2 and SCN9A explaining
            hereditary sensory neuropathy and congenital insensitivity to pain
            in a Brazilian cohort.
REFERENCE   2  (residues 1 to 523)
  AUTHORS   Liu N, Zhao H, Zhao YG, Hu J and Zhang H.
  TITLE     Atlastin 2/3 regulate ER targeting of the ULK1 complex to initiate
            autophagy
  JOURNAL   J Cell Biol 220 (7) (2021)
   PUBMED   33988678
  REMARK    GeneRIF: Atlastin 2/3 regulate ER targeting of the ULK1 complex to
            initiate autophagy.
REFERENCE   3  (residues 1 to 523)
  AUTHORS   Lee SH, Hadipour-Lakmehsari S, Murthy HR, Gibb N, Miyake T, Teng
            ACT, Cosme J, Yu JC, Moon M, Lim S, Wong V, Liu P, Billia F,
            Fernandez-Gonzalez R, Stagljar I, Sharma P, Kislinger T, Scott IC
            and Gramolini AO.
  TITLE     REEP5 depletion causes sarco-endoplasmic reticulum vacuolization
            and cardiac functional defects
  JOURNAL   Nat Commun 11 (1), 965 (2020)
   PUBMED   32075961
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 523)
  AUTHORS   Behrendt L, Kurth I and Kaether C.
  TITLE     A disease causing ATLASTIN 3 mutation affects multiple endoplasmic
            reticulum-related pathways
  JOURNAL   Cell Mol Life Sci 76 (7), 1433-1445 (2019)
   PUBMED   30666337
  REMARK    GeneRIF: ATL3 Y192C delays endoplasmic reticulum-export by reducing
            the number of endoplasmic reticulum exit sites, reduces autophagy,
            fragments the Golgi and causes malformation of the nucleus. In
            cultured primary neurons, ATL3 Y192C does not localize to the
            growing axon, resulting in axon growth deficits.
REFERENCE   5  (residues 1 to 523)
  AUTHORS   Chen Q, Xiao Y, Chai P, Zheng P, Teng J and Chen J.
  TITLE     ATL3 Is a Tubular ER-Phagy Receptor for GABARAP-Mediated Selective
            Autophagy
  JOURNAL   Curr Biol 29 (5), 846-855 (2019)
   PUBMED   30773365
  REMARK    GeneRIF: ATL3 functions as a receptor for endoplasmic reticulum
            (ER)-phagy, promoting tubular ER degradation upon starvation. ATL3
            specifically binds to GABARAP, but not LC3, subfamily proteins via
            2 GABARAP interaction motifs (GIMs). ATL3-GABARAP interaction is
            essential for ATL3 to function in ER-phagy.
REFERENCE   6  (residues 1 to 523)
  AUTHORS   Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J,
            Barvencik F, Schinke T, Giesselmann S, Beil FT, Pou-Serradell A,
            Vilchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe
            P, Hubner CA, Gal A, Amling M, Mundlos S, Baets J and Kurth I.
  TITLE     Sensory neuropathy with bone destruction due to a mutation in the
            membrane-shaping atlastin GTPase 3
  JOURNAL   Brain 137 (Pt 3), 683-692 (2014)
   PUBMED   24459106
  REMARK    GeneRIF: ATL3 is implicated in the structural organization of
            intracellular organelles, which may be critical to axonal survival.
REFERENCE   7  (residues 1 to 523)
  AUTHORS   Chang J, Lee S and Blackstone C.
  TITLE     Protrudin binds atlastins and endoplasmic reticulum-shaping
            proteins and regulates network formation
  JOURNAL   Proc Natl Acad Sci U S A 110 (37), 14954-14959 (2013)
   PUBMED   23969831
REFERENCE   8  (residues 1 to 523)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   9  (residues 1 to 523)
  AUTHORS   Hu J, Shibata Y, Zhu PP, Voss C, Rismanchi N, Prinz WA, Rapoport TA
            and Blackstone C.
  TITLE     A class of dynamin-like GTPases involved in the generation of the
            tubular ER network
  JOURNAL   Cell 138 (3), 549-561 (2009)
   PUBMED   19665976
REFERENCE   10 (residues 1 to 523)
  AUTHORS   Rismanchi N, Soderblom C, Stadler J, Zhu PP and Blackstone C.
  TITLE     Atlastin GTPases are required for Golgi apparatus and ER
            morphogenesis
  JOURNAL   Hum Mol Genet 17 (11), 1591-1604 (2008)
   PUBMED   18270207
  REMARK    GeneRIF: A family of human GTPases, atlastin-2 and -3 that are
            closely related to atlastin-1 are described.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC394729.1, AK301910.1,
            BC077727.1 and AP000753.4.
            On Feb 21, 2014 this sequence version replaced XP_005273948.1.
            
            Summary: This gene encodes a member of a family of dynamin-like,
            integral membrane GTPases. The encoded protein is required for the
            proper formation of the network of interconnected tubules of the
            endoplasmic reticulum. Mutations in this gene may be associated
            with hereditary sensory neuropathy type IF. Alternatively spliced
            transcript variants that encode distinct isoforms have been
            described. [provided by RefSeq, Feb 2014].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region and initiates translation at an
            alternate start codon compared to variant 1. The encoded protein
            (isoform 2) has a distinct N-terminus and is shorter than isoform
            1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.65339.1,
                                           SRR1803613.164704.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..523
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     Protein         1..523
                     /product="atlastin-3 isoform 2"
                     /note="atlastin-3"
                     /calculated_mol_wt=58642
     Region          19..287
                     /region_name="P-loop_NTPase"
                     /note="P-loop containing Nucleoside Triphosphate
                     Hydrolases; cl38936"
                     /db_xref="CDD:453896"
     Site            49..56
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206650"
     Site            order(51..57,90..92,97..98,127,195..196,250)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206650"
     Site            order(87..92,97..104)
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206650"
     Site            98
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206650"
     Site            124..127
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206650"
     Site            order(126..130,140..146,149..151)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206650"
     Site            195..198
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206650"
     Site            248..250
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206650"
     CDS             1..523
                     /gene="ATL3"
                     /gene_synonym="HSN1F"
                     /coded_by="NM_001290048.2:348..1919"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS73309.1"
                     /db_xref="GeneID:25923"
                     /db_xref="HGNC:HGNC:24526"
                     /db_xref="MIM:609369"
ORIGIN      
        1 messkpgpvq vvlvqkdqhs feldekalas illqdhirdl dvvvvsvaga frkgksfild
       61 fmlrylysqk esghsnwlgd peepltgfsw rggsdpettg iqiwsevftv ekpggkkvav
      121 vlmdtqgafd sqstvkdcat ifalstmtss vqiynlsqni qeddlqqlql fteygrlamd
      181 eifqkpfqtl mflvrdwsfp yeysyglqgg mafldkrlqv kehqheeiqn vrnhihscfs
      241 dvtcfllphp glqvatspdf dgklkdiage fkeqlqalip yvlnpsklme keingskvtc
      301 rglleyfkay ikiyqgedlp hpksmlqata eannlaaaas akdiyynnme evcggekpyl
      361 spdileekhc efkqlaldhf kktkkmggkd fsfryqqele eeikelyenf ckhngsknvf
      421 stfrtpavlf tgivalyias gltgfiglev vaqlfncmvg lllialltwg yirysgqyre
      481 lggaidfgaa yvleqasshi gnstqatvrd avvgrpsmdk kaq
//
LOCUS       NP_073749                558 aa            linear   PRI 26-DEC-2022
DEFINITION  armadillo repeat-containing X-linked protein 5 [Homo sapiens].
ACCESSION   NP_073749
VERSION     NP_073749.2
DBSOURCE    REFSEQ: accession NM_022838.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 558)
  AUTHORS   Lao L, Bourdeau I, Gagliardi L, He X, Shi W, Hao B, Tan M, Hu Y,
            Peng J, Coulombe B, Torpy DJ, Scott HS, Lacroix A, Luo H and Wu J.
  TITLE     ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in
            adrenal hyperplasia
  JOURNAL   Nucleic Acids Res 50 (11), 6343-6367 (2022)
   PUBMED   35687106
REFERENCE   2  (residues 1 to 558)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 558)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 558)
  AUTHORS   Lopez-Domenech G, Serrat R, Mirra S, D'Aniello S, Somorjai I, Abad
            A, Vitureira N, Garcia-Arumi E, Alonso MT, Rodriguez-Prados M,
            Burgaya F, Andreu AL, Garcia-Sancho J, Trullas R, Garcia-Fernandez
            J and Soriano E.
  TITLE     The Eutherian Armcx genes regulate mitochondrial trafficking in
            neurons and interact with Miro and Trak2
  JOURNAL   Nat Commun 3, 814 (2012)
   PUBMED   22569362
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 558)
  AUTHORS   Winter EE and Ponting CP.
  TITLE     Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism
            sustained by gene conversion events
  JOURNAL   BMC Evol Biol 5, 54 (2005)
   PUBMED   16221301
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 558)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D,
            Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL,
            Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles
            ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman
            R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P,
            Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E,
            Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA,
            Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A,
            Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM,
            Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N,
            Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford
            EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J,
            Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E,
            Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke
            G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V,
            Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis
            C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H,
            Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ,
            Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL,
            Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert
            J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock
            R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD,
            Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M,
            Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob
            L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S,
            Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A,
            Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L,
            Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD,
            Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall
            J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G,
            Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N,
            Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R,
            Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM,
            Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S,
            Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C,
            Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC,
            Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor
            PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K,
            Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana
            D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A,
            Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G,
            Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL,
            Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D,
            Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ,
            Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M,
            Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T,
            Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC064983.1.
            On Jan 21, 2004 this sequence version replaced NP_073749.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1-6 all encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC064983.1, SRR1803612.93672.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..558
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     Protein         1..558
                     /product="armadillo repeat-containing X-linked protein 5"
                     /calculated_mol_wt=62215
     Region          1..35
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M9.1)"
     Region          139..165
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M9.1)"
     Region          300..339
                     /region_name="ARM 1. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M9.1)"
     Region          307..530
                     /region_name="Arm_2"
                     /note="Armadillo-like; pfam04826"
                     /db_xref="CDD:428145"
     Region          369..388
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M9.1)"
     Region          422..461
                     /region_name="ARM 2. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M9.1)"
     Region          463..503
                     /region_name="ARM 3. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M9.1)"
     Region          520..558
                     /region_name="ARM 4. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M9.1)"
     CDS             1..558
                     /gene="ARMCX5"
                     /gene_synonym="GASP5"
                     /coded_by="NM_022838.4:642..2318"
                     /db_xref="CCDS:CCDS14500.1"
                     /db_xref="GeneID:64860"
                     /db_xref="HGNC:HGNC:25772"
                     /db_xref="MIM:301047"
ORIGIN      
        1 mvdsgteara rgkaeaglqd gisgpatarv ngktqaeava eaelktesvt qakagdgamt
       61 rthtvtyrea mavtrevikv edttktrvmv etktkplaer sivpqtkska mpmsrvstvt
      121 ksevkvvavi eanirsyaks hdkantgsrp drreetsigm kssdedeeni cswfwtgeep
      181 svgswfwpee etslqvykpl pkiqekpkpt hkptltikqk viawsraryi vlvpveggeq
      241 slppegnwtl vetlietplg irpltkippy hgpyyqtlae ikkqirqrek ygpnpkachc
      301 ksrgfslepk efdklvallk ltkdpfihei atmimgispa ypftqdiihd vgitvmienl
      361 vnnpnvkehp galsmvddss esseepksge syihqvckgi iscplnspvq laglkllghl
      421 sikfedhyvi tsyipdfltl lnkgsvktkf yvlkvfscls knhantreli sakvlsslva
      481 pfnkneskan ilniieifen infqfktkak lftkekftks elisifqeak qfgqklqdla
      541 ehsdpevrdk virlilkl
//
LOCUS       NP_001289013             511 aa            linear   PRI 26-DEC-2022
DEFINITION  type 2 DNA topoisomerase 6 subunit B-like isoform b [Homo sapiens].
ACCESSION   NP_001289013
VERSION     NP_001289013.1
DBSOURCE    REFSEQ: accession NM_001302084.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 511)
  AUTHORS   Prieto ML, Ryu E, Jenkins GD, Batzler A, Nassan MM, Cuellar-Barboza
            AB, Pathak J, McElroy SL, Frye MA and Biernacka JM.
  TITLE     Leveraging electronic health records to study pleiotropic effects
            on bipolar disorder and medical comorbidities
  JOURNAL   Transl Psychiatry 6 (8), e870 (2016)
   PUBMED   27529678
  REMARK    GeneRIF: Top association findings suggested that the bipolar
            disorder risk allele at SNP rs10896235 in C11orf80 may be
            associated with increased risk of headache, including migraine.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 511)
  AUTHORS   Robert T, Nore A, Brun C, Maffre C, Crimi B, Bourbon HM and de
            Massy B.
  TITLE     The TopoVIB-Like protein family is required for meiotic DNA
            double-strand break formation
  JOURNAL   Science 351 (6276), 943-949 (2016)
   PUBMED   26917764
  REMARK    Erratum:[Science. 2016 May 6;352(6286). pii: aaf9649. doi:
            10.1126/science.aaf9649. PMID: 27151875]
REFERENCE   3  (residues 1 to 511)
  CONSRTM   Psychiatric GWAS Consortium Bipolar Disorder Working Group
  TITLE     Large-scale genome-wide association analysis of bipolar disorder
            identifies a new susceptibility locus near ODZ4
  JOURNAL   Nat Genet 43 (10), 977-983 (2011)
   PUBMED   21926972
  REMARK    Erratum:[Nat Genet. 2012 Sep;44(9):1072. Fullerton, Janice M
            [added]; Hyoun, Phil L [corrected to Lee, Phil H]; Meng, Fan Guo
            [corrected to Meng, Fan]]
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 511)
  AUTHORS   Debacker K, Winnepenninckx B, Longman C, Colgan J, Tolmie J, Murray
            R, van Luijk R, Scheers S, Fitzpatrick D and Kooy F.
  TITLE     The molecular basis of the folate-sensitive fragile site FRA11A at
            11q13
  JOURNAL   Cytogenet Genome Res 119 (1-2), 9-14 (2007)
   PUBMED   18160775
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC028240.1, AK302025.1 and BE676873.1.
            
            Transcript Variant: This variant (2) lacks two alternate exons,
            resulting in an alternate 5' UTR and translation initiation at a
            downstream in-frame start codon, and it also uses two alternate
            in-frame splice sites in the coding region, compared to variant 1.
            The encoded isoform (b) is shorter at the N-terminus, compared to
            isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302025.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000540737.7/ ENSP00000444319.1
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..511
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     Protein         1..511
                     /product="type 2 DNA topoisomerase 6 subunit B-like
                     isoform b"
                     /note="type 2 DNA topoisomerase VI subunit B-like; type 2
                     DNA topoisomerase 6 subunit B-like"
                     /calculated_mol_wt=56912
     Region          54..505
                     /region_name="DUF4554"
                     /note="Domain of unknown function (DUF4554); pfam15091"
                     /db_xref="CDD:405732"
     CDS             1..511
                     /gene="C11orf80"
                     /gene_synonym="HYDM4; TOP6BL; TOPOVIBL"
                     /coded_by="NM_001302084.2:181..1716"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS76440.1"
                     /db_xref="GeneID:79703"
                     /db_xref="HGNC:HGNC:26197"
                     /db_xref="MIM:616109"
ORIGIN      
        1 mvlkkflkei qsilpgisak ltwtseegsy sqdmtgvtpf qmifevdekp rtlmtdclvi
       61 khflrkiimv hpkvrfhfsv kvngilstei fgveneptln lgngiallvd sqhyvsrpnf
      121 gtieshcsri hpvlghpvml fipedvagmd llgeliltpa aalcpspkvs snqlnrissv
      181 siflygplgl plilstweqp mttffkdtss lvdwkkyhlc mipnldlnld rdlvlpdvsy
      241 qvesseedqs qtmdpqgqtl llflfvdfhs afpvqqmeiw gvytlltthl nailveshsv
      301 vqgsiqftvd kvleqhhqaa kaqqklqasl svavnsimsi ltgstrssfr kmclqtlqaa
      361 dtqefrtklh kvfreitqhq flhhcscevk qltlekkdsa qgtedapdns slelladtsg
      421 qaenkrlkrg sprieemral rsarapspse aaprrpeata apltprgreh reahgralap
      481 graslgsrle dvlwlqevsn lsewlspspg p
//
LOCUS       NP_001191435            1084 aa            linear   PRI 26-DEC-2022
DEFINITION  diacylglycerol kinase eta isoform 4 [Homo sapiens].
ACCESSION   NP_001191435
VERSION     NP_001191435.1
DBSOURCE    REFSEQ: accession NM_001204506.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1084)
  AUTHORS   Sharma P, Yadav SK, Shah SD, Javed E, Lim JM, Pan S, Nayak AP,
            Panettieri RA Jr, Penn RB, Kambayashi T and Deshpande DA.
  TITLE     Diacylglycerol Kinase Inhibition Reduces Airway Contraction by
            Negative Feedback Regulation of Gq-Signaling
  JOURNAL   Am J Respir Cell Mol Biol 65 (6), 658-671 (2021)
   PUBMED   34293268
  REMARK    GeneRIF: Diacylglycerol Kinase Inhibition Reduces Airway
            Contraction by Negative Feedback Regulation of Gq-Signaling.
REFERENCE   2  (residues 1 to 1084)
  AUTHORS   Matsumoto Y, Suzuki A, Shirata T, Takahashi N, Noto K, Goto K and
            Otani K.
  TITLE     Implication of the DGKH genotype in openness to experience, a
            premorbid personality trait of bipolar disorder
  JOURNAL   J Affect Disord 238, 539-541 (2018)
   PUBMED   29936393
  REMARK    GeneRIF: The present study shows that a bipolar-risk allele of DGKH
            is associated with higher openness to experience, providing further
            evidence for the implication of this gene in the etiology of
            bipolar disorder.
REFERENCE   3  (residues 1 to 1084)
  AUTHORS   Weissflog L, Becker N, Bossert N, Freudenberg F, Kittel-Schneider S
            and Reif A.
  TITLE     Expressional profile of the diacylglycerol kinase eta gene DGKH
  JOURNAL   Eur Arch Psychiatry Clin Neurosci 267 (5), 445-454 (2017)
   PUBMED   27085324
  REMARK    GeneRIF: This sstudy shown that the highest expression levels of
            DGKH in the human brain were found in the striatum.
REFERENCE   4  (residues 1 to 1084)
  AUTHORS   Gregersen NO, Lescai F, Liang J, Li Q, Als T, Buttenschon HN,
            Hedemand A, Biskopsto M, Wang J, Wang AG, Borglum AD, Mors O and
            Demontis D.
  TITLE     Whole-exome sequencing implicates DGKH as a risk gene for panic
            disorder in the Faroese population
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 171 (8), 1013-1022 (2016)
   PUBMED   27255576
  REMARK    GeneRIF: several single variants and genes showed strong
            association with Panic Disorders, where DGKH was found to be the
            strongest Panic Disorder associated gene. Interestingly DGKH has
            previously demonstrated genome-wide significant association with
            bipolar disorder as well as evidence of association to other mental
            disorders.
REFERENCE   5  (residues 1 to 1084)
  AUTHORS   Yasuda S, Kai M, Imai S, Takeishi K, Taketomi A, Toyota M, Kanoh H
            and Sakane F.
  TITLE     Diacylglycerol kinase eta augments C-Raf activity and B-Raf/C-Raf
            heterodimerization
  JOURNAL   J Biol Chem 284 (43), 29559-29570 (2009)
   PUBMED   19710016
  REMARK    GeneRIF: DGKeta acts as a novel critical regulatory component of
            the Ras/B-Raf/C-Raf/MEK/ERK signaling cascade via a previously
            unidentified mechanism.
REFERENCE   6  (residues 1 to 1084)
  AUTHORS   Tesli M, Kahler AK, Andreassen BK, Werge T, Mors O, Mellerup E,
            Koefoed P, Melle I, Morken G, Wirgenes KV, Andreassen OA and
            Djurovic S.
  TITLE     No association between DGKH and bipolar disorder in a Scandinavian
            case-control sample
  JOURNAL   Psychiatr Genet 19 (5), 269-272 (2009)
   PUBMED   19478689
  REMARK    GeneRIF: No significant association after multiple-testing
            correction between any of the single nucleotide polymorphisms in
            DGKH and bipolar disorder, was found.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 1084)
  AUTHORS   Baum AE, Akula N, Cabanero M, Cardona I, Corona W, Klemens B,
            Schulze TG, Cichon S, Rietschel M, Nothen MM, Georgi A, Schumacher
            J, Schwarz M, Abou Jamra R, Hofels S, Propping P, Satagopan J,
            Detera-Wadleigh SD, Hardy J and McMahon FJ.
  TITLE     A genome-wide association study implicates diacylglycerol kinase
            eta (DGKH) and several other genes in the etiology of bipolar
            disorder
  JOURNAL   Mol Psychiatry 13 (2), 197-207 (2008)
   PUBMED   17486107
  REMARK    GeneRIF: diacylglycerol kinase eta (DGKH) is association in the
            etiology of bipolar disorder.
            GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (residues 1 to 1084)
  AUTHORS   Murakami T, Sakane F, Imai S, Houkin K and Kanoh H.
  TITLE     Identification and characterization of two splice variants of human
            diacylglycerol kinase eta
  JOURNAL   J Biol Chem 278 (36), 34364-34372 (2003)
   PUBMED   12810723
  REMARK    GeneRIF: alternative splicing of the human DGK eta gene generates
            at least two isoforms with distinct biochemical and cell biological
            properties responding to different cellular metabolic requirements
REFERENCE   9  (residues 1 to 1084)
  AUTHORS   Sakane F and Kanoh H.
  TITLE     Molecules in focus: diacylglycerol kinase
  JOURNAL   Int J Biochem Cell Biol 29 (10), 1139-1143 (1997)
   PUBMED   9438377
  REMARK    Review article
REFERENCE   10 (residues 1 to 1084)
  AUTHORS   Klauck TM, Xu X, Mousseau B and Jaken S.
  TITLE     Cloning and characterization of a glucocorticoid-induced
            diacylglycerol kinase
  JOURNAL   J Biol Chem 271 (33), 19781-19788 (1996)
   PUBMED   8702685
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK302727.1, AB078967.1,
            BC043292.2, AL136527.9 and BM978856.1.
            
            Summary: This gene encodes a member of the diacylglycerol kinase
            (DGK) enzyme family. Members of this family are involved in
            regulating intracellular concentrations of diacylglycerol and
            phosphatidic acid. Variation in this gene has been associated with
            bipolar disorder. Alternatively spliced transcript variants have
            been identified. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (5) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and contains an alternate exon in
            the 3' coding region, which results in a frameshift, compared to
            variant 1. It initiates translation at a downstream in-frame start
            codon. The encoded isoform (4) has a shorter N-terminus and a
            distinct C-terminus, and is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302727.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1084
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     Protein         1..1084
                     /product="diacylglycerol kinase eta isoform 4"
                     /EC_number="2.7.1.107"
                     /note="DAG kinase eta; diglyceride kinase eta"
                     /calculated_mol_wt=120435
     Region          11..96
                     /region_name="C1_DGKeta_rpt1"
                     /note="first protein kinase C conserved region 1 (C1
                     domain) found in diacylglycerol kinase eta (DAG kinase
                     eta) and similar proteins; cd20848"
                     /db_xref="CDD:410398"
     Region          107..168
                     /region_name="C1_DGKeta_rpt2"
                     /note="second protein kinase C conserved region 1 (C1
                     domain) found in diacylglycerol kinase eta (DAG kinase
                     eta) and similar proteins; cd20894"
                     /db_xref="CDD:410444"
     Region          198..320
                     /region_name="DAGKc"
                     /note="Diacylglycerol kinase catalytic domain (presumed);
                     smart00046"
                     /db_xref="CDD:214487"
     Region          634..791
                     /region_name="DAGKa"
                     /note="Diacylglycerol kinase accessory domain (presumed);
                     smart00045"
                     /db_xref="CDD:214486"
     Region          1011..1075
                     /region_name="SAM_DGK-eta"
                     /note="SAM domain of diacylglycerol kinase eta; cd09576"
                     /db_xref="CDD:188975"
     Site            order(1038..1042,1048..1050,1052..1053,1056)
                     /site_type="other"
                     /note="putative homooligomer interface ML [polypeptide
                     binding]"
                     /db_xref="CDD:188975"
     Site            order(1051,1055,1060..1064,1066..1067,1070)
                     /site_type="other"
                     /note="putative homooligomer interface EH [polypeptide
                     binding]"
                     /db_xref="CDD:188975"
     CDS             1..1084
                     /gene="DGKH"
                     /gene_synonym="DGKeta"
                     /coded_by="NM_001204506.3:117..3371"
                     /note="isoform 4 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS55899.1"
                     /db_xref="GeneID:160851"
                     /db_xref="HGNC:HGNC:2854"
                     /db_xref="MIM:604071"
ORIGIN      
        1 mlcaenrkem edwisslksv qtrepyevaq fnvehfsgmh nwyacsharp tfcnvcresl
       61 sgvtshglsc evckfkahkr cavratnnck wttlasigkd iiededgvam phqwlegnlp
      121 vsakcavcdk tcgsvlrlqd wkclwcktmv htackdlyhp icplgqckvs iippialnst
      181 dsdgfcratf sfcvspllvf vnsksgdnqg vkflrrfkql lnpaqvfdlm nggphlglrl
      241 fqkfdnfril vcggdgsvgw vlseidklnl nkqcqlgvlp lgtgndlarv lgwggsyddd
      301 tqlpqilekl erastkmldr wsimtyelkl ppkasllpgp peaseefymt iyedsvathl
      361 tkilnsdeha vvissaktlc etvkdfvakv ektydktlen avvadavask csvlnekleq
      421 llqalhtdsq aapvlpglsp liveedaves sseeslgesk eqlgddvtkp ssqkavkpre
      481 imlranslkk avrqvieeag kvmddptvhp cepanqssdy dstetdeske eakddgakes
      541 itvktaprsp darasyghsq tdsvpgpava askenlpvln triicpglra glaasiagss
      601 iinkmllani dpfgatpfid pdldsvdgys ekcvmnnyfg igldakisle fnnkreehpe
      661 kcrsrtknlm wygvlgtrel lqrsyknleq rvqlecdgqy iplpslqgia vlnipsyagg
      721 tnfwggtked difaapsfdd kilevvaifd smqmavsrvi klqhhriaqc rtvkitifgd
      781 egvpvqvdge awvqppgiik ivhknraqml trdrafestl kswedkqkcd sgkpvlrthl
      841 yihhaidlat eevsqmqlcs qaaeelitri cdaatihcll eqelahavna cshalnkanp
      901 rcpesltrdt ateiainvka lynetesllv grvplqlesp heervsnalh svevelqklt
      961 eipwlyyilh pnedeeppmd ctkrnnrstv frivpkfkke kvqkqktssq pvqkwgteev
     1021 aawldllnlg eykdifirhd irgaellhle rrdlkdlgip kvghvkrilq gikelgrstp
     1081 qsev
//
LOCUS       NP_001351073             380 aa            linear   PRI 26-DEC-2022
DEFINITION  casein kinase I isoform gamma-3 isoform 11 [Homo sapiens].
ACCESSION   NP_001351073
VERSION     NP_001351073.1
DBSOURCE    REFSEQ: accession NM_001364144.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 380)
  AUTHORS   Piras R, Ko EY, Barrett C, De Simone M, Lin X, Broz MT, Tessaro
            FHG, Castillo-Martin M, Cordon-Cardo C, Goodridge HS, Di Vizio D,
            Batish M, Lawrenson K, Chen YG, Chan KS and Guarnerio J.
  TITLE     circCsnk1g3- and circAnkib1-regulated interferon responses in
            sarcoma promote tumorigenesis by shaping the immune
            microenvironment
  JOURNAL   Nat Commun 13 (1), 7243 (2022)
   PUBMED   36433954
  REMARK    GeneRIF: circCsnk1g3- and circAnkib1-regulated interferon responses
            in sarcoma promote tumorigenesis by shaping the immune
            microenvironment.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 380)
  AUTHORS   Agajanian MJ, Potjewyd FM, Bowman BM, Solomon S, LaPak KM, Bhatt
            DP, Smith JL, Goldfarb D, Axtman AD and Major MB.
  TITLE     Protein proximity networks and functional evaluation of the casein
            kinase 1 gamma family reveal unique roles for CK1gamma3 in WNT
            signaling
  JOURNAL   J Biol Chem 298 (6), 101986 (2022)
   PUBMED   35487243
  REMARK    GeneRIF: Protein proximity networks and functional evaluation of
            the casein kinase 1 gamma family reveal unique roles for CK1gamma3
            in WNT signaling.
REFERENCE   3  (residues 1 to 380)
  AUTHORS   Son HJ, Choi EJ, Yoo NJ and Lee SH.
  TITLE     Intratumoral heterogeneity of CSNK1G3 mutations, a casein kinase 1,
            in colon cancers
  JOURNAL   Pathol Res Pract 216 (5), 152936 (2020)
   PUBMED   32241596
  REMARK    GeneRIF: Intratumoral heterogeneity of CSNK1G3 mutations, a casein
            kinase 1, in colon cancers.
REFERENCE   4  (residues 1 to 380)
  AUTHORS   Chia R, Haddock S, Beilina A, Rudenko IN, Mamais A, Kaganovich A,
            Li Y, Kumaran R, Nalls MA and Cookson MR.
  TITLE     Phosphorylation of LRRK2 by casein kinase 1alpha regulates
            trans-Golgi clustering via differential interaction with ARHGEF7
  JOURNAL   Nat Commun 5, 5827 (2014)
   PUBMED   25500533
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 380)
  AUTHORS   Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni
            S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS,
            Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R,
            Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K,
            Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K,
            Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen
            M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson
            PKE, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte
            IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena
            R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ,
            Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik
            EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher
            D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL,
            Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney ASF, Doring
            A, Elliott P, Epstein SE, Ingi Eyjolfsson G, Gigante B, Goodarzi
            MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL,
            Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones
            MR, Kaleebu P, Kastelein JJP, Khaw KT, Kim E, Klopp N, Komulainen
            P, Kumari M, Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos
            RJF, Mach F, McArdle WL, Meisinger C, Mitchell BD, Muller G,
            Nagaraja R, Narisu N, Nieminen TVM, Nsubuga RN, Olafsson I, Ong KK,
            Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP,
            Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl
            H, Seeley J, Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret
            L, Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga
            C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH,
            Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud
            M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier
            M, Campbell H, Chakravarti A, Chambers JC, Chen YI, Collins FS,
            Cooper RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrieres
            J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V,
            Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN,
            Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K,
            Iribarren C, Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A,
            Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J,
            Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz
            W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L,
            Morris AD, Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller
            PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D,
            Salomaa V, Sanghera DK, Saramies J, Schwarz PEH, Sheu WH, Shuldiner
            AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO,
            Tremoli E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P,
            Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BHR, Ordovas
            JM, Boerwinkle E, Palmer CNA, Thorsteinsdottir U, Chasman DI,
            Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS,
            Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E and
            Abecasis GR.
  CONSRTM   Global Lipids Genetics Consortium
  TITLE     Discovery and refinement of loci associated with lipid levels
  JOURNAL   Nat Genet 45 (11), 1274-1283 (2013)
   PUBMED   24097068
REFERENCE   6  (residues 1 to 380)
  AUTHORS   Kawakami F, Suzuki K and Ohtsuki K.
  TITLE     A novel consensus phosphorylation motif in sulfatide- and
            cholesterol-3-sulfate-binding protein substrates for CK1 in vitro
  JOURNAL   Biol Pharm Bull 31 (2), 193-200 (2008)
   PUBMED   18239272
REFERENCE   7  (residues 1 to 380)
  AUTHORS   Morgan-Lappe S, Woods KW, Li Q, Anderson MG, Schurdak ME, Luo Y,
            Giranda VL, Fesik SW and Leverson JD.
  TITLE     RNAi-based screening of the human kinome identifies Akt-cooperating
            kinases: a new approach to designing efficacious multitargeted
            kinase inhibitors
  JOURNAL   Oncogene 25 (9), 1340-1348 (2006)
   PUBMED   16247451
REFERENCE   8  (residues 1 to 380)
  AUTHORS   Knippschild U, Wolff S, Giamas G, Brockschmidt C, Wittau M, Wurl
            PU, Eismann T and Stoter M.
  TITLE     The role of the casein kinase 1 (CK1) family in different signaling
            pathways linked to cancer development
  JOURNAL   Onkologie 28 (10), 508-514 (2005)
   PUBMED   16186692
  REMARK    Review article
REFERENCE   9  (residues 1 to 380)
  AUTHORS   McKay RM, Peters JM and Graff JM.
  TITLE     The casein kinase I family in Wnt signaling
  JOURNAL   Dev Biol 235 (2), 388-396 (2001)
   PUBMED   11437445
REFERENCE   10 (residues 1 to 380)
  AUTHORS   Kusuda J, Hirai M, Toyoda A, Tanuma R and Hashimoto K.
  TITLE     Cloning and chromosome mapping of the human casein kinase I gamma3
            gene (CSNK1G3)
  JOURNAL   Cytogenet Cell Genet 83 (1-2), 101-103 (1998)
   PUBMED   9925945
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026422.5 and AC008541.6.
            
            Summary: This gene encodes a member of a family of serine/threonine
            protein kinases that phosphorylate caseins and other acidic
            proteins. A related protein in the African clawed frog participates
            in the transmission of Wnt/beta-catenin signaling. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, Jul 2012].
            
            Transcript Variant: This variant (11) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (11)
            is shorter at the N-terminus compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.2634692.1,
                                           SRR1660809.151510.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151741, SAMN04284274
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..380
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.2"
     Protein         1..380
                     /product="casein kinase I isoform gamma-3 isoform 11"
                     /EC_number="2.7.11.1"
                     /calculated_mol_wt=44077
     Region          1..253
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Region          253..342
                     /region_name="CK1gamma_C"
                     /note="Casein kinase 1 gamma C terminal; pfam12605"
                     /db_xref="CDD:432663"
     CDS             1..380
                     /gene="CSNK1G3"
                     /gene_synonym="CKI-gamma 3; CSNK1G3L"
                     /coded_by="NM_001364144.2:401..1543"
                     /note="isoform 11 is encoded by transcript variant 11"
                     /db_xref="GeneID:1456"
                     /db_xref="HGNC:HGNC:2456"
                     /db_xref="MIM:604253"
ORIGIN      
        1 mksrapqlhl eyrfykqlgs gdgipqvyyf gpcgkynamv lellgpsled lfdlcdrtfs
       61 lktvlmiaiq lisrmeyvhs knliyrdvkp enfligrpgn ktqqvihiid fglakeyidp
      121 etkkhipyre hksltgtary msinthlgke qsrrddleal ghmfmyflrg slpwqglkad
      181 tlkeryqkig dtkratpiev lcenfpemat ylryvrrldf fekpdydylr klftdlfdrk
      241 gymfdyeydw igkqlptpvg avqqdpalss nreahqhrdk mqqsknqsad hraawdsqqa
      301 nphhlrahla adrhggsvqv vsstngelnt ddptagrsna pitaptevev mdetncqkvl
      361 nmwcccffkr rkrktiqrhk
//
LOCUS       NP_001337563             365 aa            linear   PRI 27-DEC-2022
DEFINITION  protein NOXP20 isoform 7 [Homo sapiens].
ACCESSION   NP_001337563
VERSION     NP_001337563.1
DBSOURCE    REFSEQ: accession NM_001350634.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 365)
  AUTHORS   Subbaiah KCV, Wu J, Tang WHW and Yao P.
  TITLE     FAM114A1 influences cardiac pathological remodeling by regulating
            angiotensin II signaling
  JOURNAL   JCI Insight 7 (13), e152783 (2022)
   PUBMED   35671117
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 365)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 365)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 365)
  AUTHORS   Sung H, Camargo MC, Yu K, Weinstein SJ, Morgan DR, Albanes D and
            Rabkin CS.
  TITLE     Association of 4p14 TLR locus with antibodies to Helicobacter
            pylori
  JOURNAL   Genes Immun 16 (8), 567-570 (2015)
   PUBMED   26312625
  REMARK    GeneRIF: Study annotated variants at 4p14 as expression
            quantitative trait loci (eQTL) associated with TLR6/10 and
            FAM114A1; findings suggest that 4p14 polymorphisms are linked to
            host immune response to H. pylori infection but not to its
            acquisition.
REFERENCE   5  (residues 1 to 365)
  AUTHORS   Bonnelykke K, Matheson MC, Pers TH, Granell R, Strachan DP, Alves
            AC, Linneberg A, Curtin JA, Warrington NM, Standl M, Kerkhof M,
            Jonsdottir I, Bukvic BK, Kaakinen M, Sleimann P, Thorleifsson G,
            Thorsteinsdottir U, Schramm K, Baltic S, Kreiner-Moller E, Simpson
            A, St Pourcain B, Coin L, Hui J, Walters EH, Tiesler CMT, Duffy DL,
            Jones G, Ring SM, McArdle WL, Price L, Robertson CF, Pekkanen J,
            Tang CS, Thiering E, Montgomery GW, Hartikainen AL, Dharmage SC,
            Husemoen LL, Herder C, Kemp JP, Elliot P, James A, Waldenberger M,
            Abramson MJ, Fairfax BP, Knight JC, Gupta R, Thompson PJ, Holt P,
            Sly P, Hirschhorn JN, Blekic M, Weidinger S, Hakonarsson H,
            Stefansson K, Heinrich J, Postma DS, Custovic A, Pennell CE,
            Jarvelin MR, Koppelman GH, Timpson N, Ferreira MA, Bisgaard H and
            Henderson AJ.
  CONSRTM   AAGC
  TITLE     Meta-analysis of genome-wide association studies identifies ten
            loci influencing allergic sensitization
  JOURNAL   Nat Genet 45 (8), 902-906 (2013)
   PUBMED   23817571
REFERENCE   6  (residues 1 to 365)
  AUTHORS   Mayerle J, den Hoed CM, Schurmann C, Stolk L, Homuth G, Peters MJ,
            Capelle LG, Zimmermann K, Rivadeneira F, Gruska S, Volzke H, de
            Vries AC, Volker U, Teumer A, van Meurs JB, Steinmetz I, Nauck M,
            Ernst F, Weiss FU, Hofman A, Zenker M, Kroemer HK, Prokisch H,
            Uitterlinden AG, Lerch MM and Kuipers EJ.
  TITLE     Identification of genetic loci associated with Helicobacter pylori
            serologic status
  JOURNAL   JAMA 309 (18), 1912-1920 (2013)
   PUBMED   23652523
  REMARK    Erratum:[JAMA. 2013 Jul 3;310(1):99. Kuipers, Ernst [corrected to
            Kuipers, Ernst J]]
REFERENCE   7  (residues 1 to 365)
  AUTHORS   Boucquey M, De Plaen E, Locker M, Poliard A, Mouillet-Richard S,
            Boon T and Kellermann O.
  TITLE     Noxp20 and Noxp70, two new markers of early neuronal
            differentiation, detected in teratocarcinoma-derived
            neuroectodermic precursor cells
  JOURNAL   J Neurochem 99 (2), 657-669 (2006)
   PUBMED   17029606
  REMARK    GeneRIF: This paper discusses the structure of the human Noxp20
            gene.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC108044.5.
            
            Summary: The protein encoded by this gene belongs to the FAM114
            family and may play a role in neuronal cell development.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Apr 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.56210.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..365
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p14"
     Protein         1..365
                     /product="protein NOXP20 isoform 7"
                     /note="protein NOXP20; nervous system over-expressed
                     protein 20"
                     /calculated_mol_wt=40945
     Region          <22..101
                     /region_name="DUF719"
                     /note="Protein of unknown function (DUF719); pfam05334"
                     /db_xref="CDD:428427"
     CDS             1..365
                     /gene="FAM114A1"
                     /gene_synonym="Noxp20"
                     /coded_by="NM_001350634.2:238..1335"
                     /note="isoform 7 is encoded by transcript variant 7"
                     /db_xref="GeneID:92689"
                     /db_xref="HGNC:HGNC:25087"
ORIGIN      
        1 mqpqiralqk ahplplhqpl ggksvltggl dalefigkkt mnvlaesdpg fkrtktlmer
       61 tvslsqmlre akekekqrla qqltmertah ygmlfdeyqg lshlealeil sneseskvqs
      121 flasldgekl ellkndlisi kdifaakele neenqeeqgl eekgeefarm ltellfelhv
      181 aatpdklnka mkrahdwvee dqtvvsvdva kvseeetkke ekeeksqdpq edkkeekktk
      241 tieevymssi eslaevtarc ieqlhkvael ilhgqeeekp aqdqakvlik lttamcneva
      301 slskkftnsl ttvgsnkkae vlnpmissvl legcnsttyi qdafqlllpv lqvshiqtsc
      361 lkaqp
//
LOCUS       NP_001291754             100 aa            linear   PRI 27-DEC-2022
DEFINITION  TSSK6-activating co-chaperone protein isoform b [Homo sapiens].
ACCESSION   NP_001291754
VERSION     NP_001291754.1
DBSOURCE    REFSEQ: accession NM_001304825.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 100)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 100)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 100)
  AUTHORS   Jha KN, Wong L, Zerfas PM, De Silva RS, Fan YX, Spiridonov NA and
            Johnson GR.
  TITLE     Identification of a novel HSP70-binding cochaperone critical to
            HSP90-mediated activation of small serine/threonine kinase
  JOURNAL   J Biol Chem 285 (45), 35180-35187 (2010)
   PUBMED   20829357
REFERENCE   4  (residues 1 to 100)
  AUTHORS   Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura
            Y and Kamatani N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   5  (residues 1 to 100)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL589685.17, HY044099.1, BI831108.1 and BC014605.1.
            
            Transcript Variant: This variant (9) uses an alternate splice
            junction at the 5' end of the last exon compared to variant 1, that
            causes a frameshift. The resulting isoform (b) has a shorter and
            distinct C-terminus compared to isoform a. Variants 7, 8, 9, and 10
            all encode the same isoform (b).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BI831108.1, SRR5189667.255610.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..100
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     Protein         1..100
                     /product="TSSK6-activating co-chaperone protein isoform b"
                     /note="SSTK-interacting protein (SSTK-IP);
                     TSSK6-activating co-chaperone protein; TSSK6 activating
                     co-chaperone"
                     /calculated_mol_wt=10599
     Region          1..>57
                     /region_name="SSTK-IP"
                     /note="SSTK-interacting protein, TSSK6-activating
                     co-chaperone protein; pfam15836"
                     /db_xref="CDD:406308"
     CDS             1..100
                     /gene="TSACC"
                     /gene_synonym="C1orf182; SIP; SSTK-IP"
                     /coded_by="NM_001304825.2:464..766"
                     /note="isoform b is encoded by transcript variant 9"
                     /db_xref="CCDS:CCDS76223.1"
                     /db_xref="GeneID:128229"
                     /db_xref="HGNC:HGNC:30636"
                     /db_xref="MIM:619679"
ORIGIN      
        1 merhtshpnr kvpakeeana vplcrakpsp syinlqassp patflniqtt klpsaqgmpr
       61 tpgmyvckpp asdparpttd gcfgtftgic dttgswegkq
//
LOCUS       NP_001366490             851 aa            linear   PRI 28-DEC-2022
DEFINITION  KN motif and ankyrin repeat domain-containing protein 2 isoform 2
            [Homo sapiens].
ACCESSION   NP_001366490
VERSION     NP_001366490.1
DBSOURCE    REFSEQ: accession NM_001379561.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 851)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 851)
  AUTHORS   Rafiq NBM, Nishimura Y, Plotnikov SV, Thiagarajan V, Zhang Z, Shi
            S, Natarajan M, Viasnoff V, Kanchanawong P, Jones GE and Bershadsky
            AD.
  TITLE     A mechano-signalling network linking microtubules, myosin IIA
            filaments and integrin-based adhesions
  JOURNAL   Nat Mater 18 (6), 638-649 (2019)
   PUBMED   31114072
  REMARK    GeneRIF: KANK2 protein is required for targeting microtubules to
            focal adhesions.
            Erratum:[Nat Mater. 2019 Jul;18(7):770. PMID: 31147615]
REFERENCE   3  (residues 1 to 851)
  AUTHORS   Guo Q, Liao S, Zhu Z, Li Y, Li F and Xu C.
  TITLE     Structural basis for the recognition of kinesin family member 21A
            (KIF21A) by the ankyrin domains of KANK1 and KANK2 proteins
  JOURNAL   J Biol Chem 293 (2), 557-566 (2018)
   PUBMED   29183992
REFERENCE   4  (residues 1 to 851)
  AUTHORS   Hudson CA, McArdle CA and Lopez Bernal A.
  TITLE     Steroid receptor co-activator interacting protein (SIP) mediates
            EGF-stimulated expression of the prostaglandin synthase COX2 and
            prostaglandin release in human myometrium
  JOURNAL   Mol Hum Reprod 22 (7), 512-525 (2016)
   PUBMED   27161844
REFERENCE   5  (residues 1 to 851)
  AUTHORS   Luo M, Mengos AE, Mandarino LJ and Sekulic A.
  TITLE     Association of liprin beta-1 with kank proteins in melanoma
  JOURNAL   Exp Dermatol 25 (4), 321-323 (2016)
   PUBMED   26739330
  REMARK    GeneRIF: liprin beta-1 is associated with expression of kank 1 and
            2 proteins in melanoma
REFERENCE   6  (residues 1 to 851)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   7  (residues 1 to 851)
  AUTHORS   Kakinuma N, Zhu Y, Wang Y, Roy BC and Kiyama R.
  TITLE     Kank proteins: structure, functions and diseases
  JOURNAL   Cell Mol Life Sci 66 (16), 2651-2659 (2009)
   PUBMED   19554261
  REMARK    Review article
REFERENCE   8  (residues 1 to 851)
  AUTHORS   Zhu Y, Kakinuma N, Wang Y and Kiyama R.
  TITLE     Kank proteins: a new family of ankyrin-repeat domain-containing
            proteins
  JOURNAL   Biochim Biophys Acta 1780 (2), 128-133 (2008)
   PUBMED   17996375
REFERENCE   9  (residues 1 to 851)
  AUTHORS   Zhang Y, Zhang H, Liang J, Yu W and Shang Y.
  TITLE     SIP, a novel ankyrin repeat containing protein, sequesters steroid
            receptor coactivators in the cytoplasm
  JOURNAL   EMBO J 26 (11), 2645-2657 (2007)
   PUBMED   17476305
  REMARK    GeneRIF: SIP, a novel ankyrin repeat containing protein, sequesters
            steroid receptor coactivators in the cytoplasm.
REFERENCE   10 (residues 1 to 851)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human RPE/choroid for the
            NEIBank Project: over 6000 non-redundant transcripts, novel genes
            and splice variants
  JOURNAL   Mol Vis 8, 205-220 (2002)
   PUBMED   12107410
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009000.6 and AC011485.6.
            
            Summary: This gene encodes a member of the KN motif and ankyrin
            repeat domains (KANK) family of proteins, which play a role in
            cytoskeletal formation by regulating actin polymerization. The
            encoded protein functions in the sequestration of steroid receptor
            coactivators and possibly other proteins. Mutations in this gene
            are associated with impaired kidney podocyte function and nephrotic
            syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul
            2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR18074967.343330.1, SRR14038196.524311.1
                                    [ECO:0000331]
            RNAseq introns       :: partial sample support SAMEA1968189
                                    [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..851
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     Protein         1..851
                     /product="KN motif and ankyrin repeat domain-containing
                     protein 2 isoform 2"
                     /note="KN motif and ankyrin repeat domain-containing
                     protein 2; kidney ankyrin repeat-containing protein 2;
                     SRC1-interacting protein; matrix-remodeling-associated
                     protein 3; ankyrin repeat domain-containing protein 25;
                     SRC-interacting protein"
                     /calculated_mol_wt=91044
     Region          1..72
                     /region_name="Interaction with AIFM1.
                     /evidence=ECO:0000269|PubMed:22371500"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Region          1..30
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Site            19
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Region          31..69
                     /region_name="KN_motif"
                     /note="KN motif; pfam12075"
                     /db_xref="CDD:432311"
     Site            83
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BX02; propagated from
                     UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Site            86
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BX02; propagated from
                     UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Site            89
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BX02; propagated from
                     UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Site            92
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Site            105
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Region          139..182
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Site            168
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8BX02; propagated from
                     UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Region          304..325
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Site            323
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Site            329
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Site            356
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Site            375
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Region          416..584
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Site            472
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Site            540
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Site            552
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Region          614..651
                     /region_name="ANK 0, degenerate.
                     /evidence=ECO:0000269|PubMed:29183992"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Region          628..664
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          <651..806
                     /region_name="ANKYR"
                     /note="Ankyrin repeat [Signal transduction mechanisms];
                     COG0666"
                     /db_xref="CDD:223738"
     Region          666..698
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          666..696
                     /region_name="ANK 1. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Region          669..835
                     /region_name="Interaction with NCOA1.
                     /evidence=ECO:0000269|PubMed:17476305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZY3.1)"
     Region          700..735
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          739..769
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(740,744..745,748..750,752..753,757,760,769,771,773,
                     777..778,781..783,785..786,790,793,803,805,807,811..812,
                     815..817,819..820,824,827)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          743..828
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          771..803
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..851
                     /gene="KANK2"
                     /gene_synonym="ANKRD25; MXRA3; NPHS16; PPKWH; SIP"
                     /coded_by="NM_001379561.1:522..3077"
                     /note="isoform 2 is encoded by transcript variant 17"
                     /db_xref="CCDS:CCDS12255.1"
                     /db_xref="GeneID:25959"
                     /db_xref="HGNC:HGNC:29300"
                     /db_xref="MIM:614610"
ORIGIN      
        1 maqvlhvpap fpgtpgpasp pafpakdpdp pysvetpygy rldldflkyv ddiekghtlr
       61 rvavqrrprl sslprgpgsw wtsteslcsn asgdsrhsay sycgrgfypq ygaletrggf
      121 nprvertlld arrrledqaa tptglgsltp saagstaslv gvglppptpr ssglstpvpp
      181 saghlahvre qmagalrklr qleeqvklip vlqvklsvlq eekrqltvql ksqkflghpt
      241 agrgrselcl dlpdppedpv aletrsvgtw vrerdlgmpd geaalaakva vletqlkkal
      301 qelqaaqarq adpqpqawpp pdspvrvdtv rvvegpreve vvastaagap aqraqslepy
      361 gtglralamp grpesppvfr sqevvetmcp vpaaatsnvh mvkkisiter scdgaaglpe
      421 vpaesssspp gsevasltqp ekstgrvptq epthreptrq aasqeseeag gtggppagvr
      481 simkrkeeva dptahrrslq fvgvnggyes ssedsstaen isdndstene apeprervps
      541 vaeapqlrpa gtaaaktsrq ecqlsresqh iptaegasgs nteeeirmel spdlisacla
      601 lekyldnpna lterelkvay ttvlqewlrl acrsdahpel vrrhlvtfra msarlldyvv
      661 niadsngnta lhysvshanf pvvqqlldsg vckvdkqnra gyspimltal atlktqddie
      721 tvlqlfrlgn inakasqagq talmlavshg rvdvvkalla ceadvnvqdd dgstalmcac
      781 ehghkeiagl llavpscdis ltdrdgstal mvaldagqse iasmlysrmn ikcsfapmsd
      841 desptsssae e
//
LOCUS       NP_958848                319 aa            linear   PRI 29-DEC-2022
DEFINITION  periphilin-1 isoform 4 [Homo sapiens].
ACCESSION   NP_958848
VERSION     NP_958848.1
DBSOURCE    REFSEQ: accession NM_201440.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 319)
  AUTHORS   Prigozhin DM, Douse CH, Farleigh LE, Albecka A, Tchasovnikarova IA,
            Timms RT, Oda SI, Adolf F, Freund SMV, Maslen S, Lehner PJ and
            Modis Y.
  TITLE     Periphilin self-association underpins epigenetic silencing by the
            HUSH complex
  JOURNAL   Nucleic Acids Res 48 (18), 10313-10328 (2020)
   PUBMED   32976585
  REMARK    GeneRIF: Periphilin self-association underpins epigenetic silencing
            by the HUSH complex.
REFERENCE   2  (residues 1 to 319)
  AUTHORS   Tchasovnikarova IA, Timms RT, Douse CH, Roberts RC, Dougan G,
            Kingston RE, Modis Y and Lehner PJ.
  TITLE     Hyperactivation of HUSH complex function by Charcot-Marie-Tooth
            disease mutation in MORC2
  JOURNAL   Nat Genet 49 (7), 1035-1044 (2017)
   PUBMED   28581500
REFERENCE   3  (residues 1 to 319)
  AUTHORS   Timms RT, Tchasovnikarova IA and Lehner PJ.
  TITLE     Position-effect variegation revisited: HUSHing up heterochromatin
            in human cells
  JOURNAL   Bioessays 38 (4), 333-343 (2016)
   PUBMED   26853531
  REMARK    GeneRIF: The haploid screen identified HUSH, an epigenetic
            heterochromatin repressor complex composed of three subunits,
            TASOR, MPP8 and Periphilin. (Review)
            Review article
REFERENCE   4  (residues 1 to 319)
  AUTHORS   Tchasovnikarova IA, Timms RT, Matheson NJ, Wals K, Antrobus R,
            Gottgens B, Dougan G, Dawson MA and Lehner PJ.
  TITLE     GENE SILENCING. Epigenetic silencing by the HUSH complex mediates
            position-effect variegation in human cells
  JOURNAL   Science 348 (6242), 1481-1485 (2015)
   PUBMED   26022416
  REMARK    GeneRIF: this study identified the HUSH (human silencing hub)
            complex, comprising three poorly characterized proteins, TASOR,
            MPP8, and periphilin; this complex is absent from Drosophila but is
            conserved from fish to humans.
REFERENCE   5  (residues 1 to 319)
  AUTHORS   Sia D, Losic B, Moeini A, Cabellos L, Hao K, Revill K, Bonal D,
            Miltiadous O, Zhang Z, Hoshida Y, Cornella H, Castillo-Martin M,
            Pinyol R, Kasai Y, Roayaie S, Thung SN, Fuster J, Schwartz ME,
            Waxman S, Cordon-Cardo C, Schadt E, Mazzaferro V and Llovet JM.
  TITLE     Massive parallel sequencing uncovers actionable FGFR2-PPHLN1 fusion
            and ARAF mutations in intrahepatic cholangiocarcinoma
  JOURNAL   Nat Commun 6, 6087 (2015)
   PUBMED   25608663
  REMARK    GeneRIF: analysis of FGFR2-PPHLN1 fusion and ARAF mutations in
            intrahepatic cholangiocarcinoma
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 319)
  AUTHORS   Kurita M, Suzuki H, Masai H, Mizumoto K, Ogata E, Nishimoto I, Aiso
            S and Matsuoka M.
  TITLE     Overexpression of CR/periphilin downregulates Cdc7 expression and
            induces S-phase arrest
  JOURNAL   Biochem Biophys Res Commun 324 (2), 554-561 (2004)
   PUBMED   15474462
  REMARK    GeneRIF: CR (periphilin) retards S-phase progression by modifying
            expression of Cdc7 and other genes involved in progression of DNA
            replication
REFERENCE   7  (residues 1 to 319)
  AUTHORS   Goehler H, Lalowski M, Stelzl U, Waelter S, Stroedicke M, Worm U,
            Droege A, Lindenberg KS, Knoblich M, Haenig C, Herbst M, Suopanki
            J, Scherzinger E, Abraham C, Bauer B, Hasenbank R, Fritzsche A,
            Ludewig AH, Bussow K, Coleman SH, Gutekunst CA, Landwehrmeyer BG,
            Lehrach H and Wanker EE.
  TITLE     A protein interaction network links GIT1, an enhancer of huntingtin
            aggregation, to Huntington's disease
  JOURNAL   Mol Cell 15 (6), 853-865 (2004)
   PUBMED   15383276
  REMARK    Erratum:[Mol Cell. 2005 Jul 22;19(2):287. Buessow, Konrad
            [corrected to Bussow, Konrad]]
REFERENCE   8  (residues 1 to 319)
  AUTHORS   Kazerounian S and Aho S.
  TITLE     Characterization of periphilin, a widespread, highly insoluble
            nuclear protein and potential constituent of the keratinocyte
            cornified envelope
  JOURNAL   J Biol Chem 278 (38), 36707-36717 (2003)
   PUBMED   12853457
  REMARK    GeneRIF: periphilin is potentially involved in epithelial
            differentiation and contributes to epidermal integrity and barrier
            formation
REFERENCE   9  (residues 1 to 319)
  AUTHORS   Kazerounian S, Uitto J and Aho S.
  TITLE     Unique role for the periplakin tail in intermediate filament
            association: specific binding to keratin 8 and vimentin
  JOURNAL   Exp Dermatol 11 (5), 428-438 (2002)
   PUBMED   12366696
REFERENCE   10 (residues 1 to 319)
  AUTHORS   Line A, Stengrevics A, Slucka Z, Li G, Jankevics E and Rees RC.
  TITLE     Serological identification and expression analysis of gastric
            cancer-associated genes
  JOURNAL   Br J Cancer 86 (11), 1824-1830 (2002)
   PUBMED   12087473
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK129910.1, AY157850.1,
            CA444170.1 and AC079601.25.
            
            Summary: The protein encoded by this gene is one of the several
            proteins that become sequentially incorporated into the cornified
            cell envelope during the terminal differentiation of keratinocyte
            at the outer layers of epidermis. This protein interacts with
            periplakin, which is known as a precursor of the cornified cell
            envelope. The cellular localization pattern and insolubility of
            this protein suggest that it may play a role in epithelial
            differentiation and contribute to epidermal integrity and barrier
            formation. Multiple alternatively spliced transcript variants
            encoding distinct isoforms have been observed. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (4) has multiple differences
            compared to variant 1. The resulting isoform (4) has distinct N-
            and C-termini, as compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1462931.1,
                                           SRR14038197.2305741.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
     Protein         1..319
                     /product="periphilin-1 isoform 4"
                     /note="gastric cancer antigen Ga50; CDC7 expression
                     repressor"
                     /calculated_mol_wt=36821
     Region          237..309
                     /region_name="periphilin-like"
                     /note="Vertebrate periphilin-1 and similar proteins;
                     cd22896"
                     /db_xref="CDD:439377"
     Site            order(242,246..247,250,253..254,257..258,261..262,265,283,
                     286..287,290..291,294..295,297..298,301..302,305)
                     /site_type="other"
                     /note="heterotrimer interface [polypeptide binding]"
                     /db_xref="CDD:439377"
     CDS             1..319
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /coded_by="NM_201440.2:106..1065"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS55817.1"
                     /db_xref="GeneID:51535"
                     /db_xref="HGNC:HGNC:19369"
                     /db_xref="MIM:608150"
ORIGIN      
        1 mayrrdemws egryeyerip rerapprshp sdesgyrwtr ddhsasrqpe yrdmrdgfrr
       61 ksfysshyar erspykrdnt ffrespvgrk dsphsrsgss vssrsysper sksysfhqsq
      121 hrksvrpgas ykrqnegnpe rdkerpvqsl ktsrdtspss gsavssskvl dkpsrlteke
      181 laeaaskwaa ekleksdesn lpeiseyeag staplftdqp eepesntthg ielfedsqlt
      241 trskaiaskt keieqvyrqd cetfgmvvkm liekdpslek siqfalrqnl heigercvee
      301 lkhfiaeydt stqdfgepf
//
LOCUS       NP_001002841             197 aa            linear   PRI 30-DEC-2022
DEFINITION  myosin light chain 4 [Homo sapiens].
ACCESSION   NP_001002841
VERSION     NP_001002841.1
DBSOURCE    REFSEQ: accession NM_001002841.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 197)
  AUTHORS   Liu Y, Zhou H, Tao Y, Xu Z and Lai H.
  TITLE     Relationship between Serum miR-106 and MYL4 Levels and the
            Prevalence, Risk Stratification, and Prognosis of Atrial
            Fibrillation
  JOURNAL   J Immunol Res 2022, 1069866 (2022)
   PUBMED   35874900
  REMARK    GeneRIF: Relationship between Serum miR-106 and MYL4 Levels and the
            Prevalence, Risk Stratification, and Prognosis of Atrial
            Fibrillation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 197)
  AUTHORS   Ghazizadeh Z, Kiviniemi T, Olafsson S, Plotnick D, Beerens ME,
            Zhang K, Gillon L, Steinbaugh MJ, Barrera V, Sui SH, Werdich AA,
            Kapur S, Eranti A, Gunn J, Jalkanen J, Airaksinen J, Kleber AG,
            Hollmen M and MacRae CA.
  TITLE     Metastable Atrial State Underlies the Primary Genetic Substrate for
            MYL4 Mutation-Associated Atrial Fibrillation
  JOURNAL   Circulation 141 (4), 301-312 (2020)
   PUBMED   31735076
  REMARK    GeneRIF: Metastable Atrial State Underlies the Primary Genetic
            Substrate for MYL4 Mutation-Associated Atrial Fibrillation.
REFERENCE   3  (residues 1 to 197)
  AUTHORS   Gudbjartsson DF, Holm H, Sulem P, Masson G, Oddsson A, Magnusson
            OT, Saemundsdottir J, Helgadottir HT, Helgason H, Johannsdottir H,
            Gretarsdottir S, Gudjonsson SA, Njolstad I, Lochen ML, Baum L, Ma
            RC, Sigfusson G, Kong A, Thorgeirsson G, Sverrisson JT,
            Thorsteinsdottir U, Stefansson K and Arnar DO.
  TITLE     A frameshift deletion in the sarcomere gene MYL4 causes early-onset
            familial atrial fibrillation
  JOURNAL   Eur Heart J 38 (1), 27-34 (2017)
   PUBMED   27742809
  REMARK    GeneRIF: The authors describe in a population approach a loss of
            function mutation in the myosin gene MYL4 that, in the homozygous
            state, is completely penetrant for early-onset AF. The finding may
            provide novel mechanistic insight into the pathophysiology of this
            complex arrhythmia.
REFERENCE   4  (residues 1 to 197)
  AUTHORS   Orr N, Arnaout R, Gula LJ, Spears DA, Leong-Sit P, Li Q, Tarhuni W,
            Reischauer S, Chauhan VS, Borkovich M, Uppal S, Adler A, Coughlin
            SR, Stainier DYR and Gollob MH.
  TITLE     A mutation in the atrial-specific myosin light chain gene (MYL4)
            causes familial atrial fibrillation
  JOURNAL   Nat Commun 7, 11303 (2016)
   PUBMED   27066836
  REMARK    GeneRIF: a novel, heterozygous p.Glu11Lys mutation in the
            atrial-specific myosin light chain gene MYL4, caused atrial
            fibrillation.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 197)
  AUTHORS   Gudbjartsson DF, Helgason H, Gudjonsson SA, Zink F, Oddson A,
            Gylfason A, Besenbacher S, Magnusson G, Halldorsson BV, Hjartarson
            E, Sigurdsson GT, Stacey SN, Frigge ML, Holm H, Saemundsdottir J,
            Helgadottir HT, Johannsdottir H, Sigfusson G, Thorgeirsson G,
            Sverrisson JT, Gretarsdottir S, Walters GB, Rafnar T, Thjodleifsson
            B, Bjornsson ES, Olafsson S, Thorarinsdottir H, Steingrimsdottir T,
            Gudmundsdottir TS, Theodors A, Jonasson JG, Sigurdsson A,
            Bjornsdottir G, Jonsson JJ, Thorarensen O, Ludvigsson P,
            Gudbjartsson H, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Arnar
            DO, Magnusson OT, Kong A, Masson G, Thorsteinsdottir U, Helgason A,
            Sulem P and Stefansson K.
  TITLE     Large-scale whole-genome sequencing of the Icelandic population
  JOURNAL   Nat Genet 47 (5), 435-444 (2015)
   PUBMED   25807286
  REMARK    GeneRIF: A recessive frameshift mutation in MYL4 causes early-onset
            atrial fibrillation.
REFERENCE   6  (residues 1 to 197)
  AUTHORS   Rotter M, Zimmerman K, Poustka A, Soussi-Yanicostas N and
            Starzinski-Powitz A.
  TITLE     The human embryonic myosin alkali light chain gene: use of
            alternative promoters and 3' non-coding regions
  JOURNAL   Nucleic Acids Res 19 (7), 1497-1504 (1991)
   PUBMED   2027757
  REMARK    Erratum:[Nucleic Acids Res 1991 Jun 25;19(12):3485]
REFERENCE   7  (residues 1 to 197)
  AUTHORS   Seharaseyon J, Bober E, Hsieh CL, Fodor WL, Francke U, Arnold HH
            and Vanin EF.
  TITLE     Human embryonic/atrial myosin alkali light chain gene:
            characterization, sequence, and chromosomal location
  JOURNAL   Genomics 7 (2), 289-293 (1990)
   PUBMED   2129532
REFERENCE   8  (residues 1 to 197)
  AUTHORS   Zimmermann K, Kautz S, Hajdu G, Winter C, Whalen RG and
            Starzinski-Powitz A.
  TITLE     Heterogenic mRNAs with an identical protein-coding region of the
            human embryonic myosin alkali light chain in skeletal muscle cells
  JOURNAL   J Mol Biol 211 (3), 505-513 (1990)
   PUBMED   2308163
REFERENCE   9  (residues 1 to 197)
  AUTHORS   Arnold HH, Lohse P, Seidel U and Bober E.
  TITLE     A novel human myosin alkali light chain is developmentally
            regulated. Expression in fetal cardiac and skeletal muscle and in
            adult atria
  JOURNAL   Eur J Biochem 178 (1), 53-60 (1988)
   PUBMED   2849544
REFERENCE   10 (residues 1 to 197)
  AUTHORS   Seidel U, Bober E, Winter B, Lenz S, Lohse P, Goedde HW, Grzeschik
            KH and Arnold HH.
  TITLE     Alkali myosin light chains in man are encoded by a multigene family
            that includes the adult skeletal muscle, the embryonic or atrial,
            and nonsarcomeric isoforms
  JOURNAL   Gene 66 (1), 135-146 (1988)
   PUBMED   2458299
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087649.6, H83803.1,
            BU658678.1 and BC030228.1.
            
            Summary: Myosin is a hexameric ATPase cellular motor protein. It is
            composed of two myosin heavy chains, two nonphosphorylatable myosin
            alkali light chains, and two phosphorylatable myosin regulatory
            light chains. This gene encodes a myosin alkali light chain that is
            found in embryonic muscle and adult atria. Two alternatively
            spliced transcript variants encoding the same protein have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.62075.1,
                                           SRR18074969.3555310.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..197
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     Protein         1..197
                     /product="myosin light chain 4"
                     /note="myosin, light polypeptide 4, alkali; atrial,
                     embryonic; myosin, atrial/fetal muscle, light chain;
                     myosin, light chain 4, alkali; atrial, embryonic; atrial
                     myosin light chain 1"
                     /calculated_mol_wt=21434
     Region          1..42
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P12829.3)"
     Site            2
                     /site_type="methylation"
                     /note="N,N,N-trimethylalanine.
                     /evidence=ECO:0000250|UniProtKB:P85100; propagated from
                     UniProtKB/Swiss-Prot (P12829.3)"
     Region          49..196
                     /region_name="PTZ00184"
                     /note="calmodulin; Provisional"
                     /db_xref="CDD:185504"
     CDS             1..197
                     /gene="MYL4"
                     /gene_synonym="ALC1; AMLC; GT1; PRO1957"
                     /coded_by="NM_001002841.2:163..756"
                     /db_xref="CCDS:CCDS11510.1"
                     /db_xref="GeneID:4635"
                     /db_xref="HGNC:HGNC:7585"
                     /db_xref="MIM:160770"
ORIGIN      
        1 mapkkpepkk eaakpapapa papapapapa peapkepafd pksvkidfta dqieefkeaf
       61 slfdrtptge mkitygqcgd vlralgqnpt naevlrvlgk pkpeemnvkm ldfetflpil
      121 qhisrnkeqg tyedfveglr vfdkesngtv mgaelrhvla tlgekmteae veqllagqed
      181 angcinyeaf vkhimsg
//
LOCUS       NP_001336442             498 aa            linear   PRI 31-DEC-2022
DEFINITION  PX domain-containing protein kinase-like protein isoform mm [Homo
            sapiens].
ACCESSION   NP_001336442
VERSION     NP_001336442.1
DBSOURCE    REFSEQ: accession NM_001349513.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 498)
  AUTHORS   Gentiluomo M, Luddi A, Cingolani A, Fornili M, Governini L,
            Lucenteforte E, Baglietto L, Piomboni P and Campa D.
  TITLE     Telomere Length and Male Fertility
  JOURNAL   Int J Mol Sci 22 (8), 3959 (2021)
   PUBMED   33921254
  REMARK    GeneRIF: Telomere Length and Male Fertility.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 498)
  AUTHORS   So J, Pasculescu A, Dai AY, Williton K, James A, Nguyen V, Creixell
            P, Schoof EM, Sinclair J, Barrios-Rodiles M, Gu J, Krizus A,
            Williams R, Olhovsky M, Dennis JW, Wrana JL, Linding R, Jorgensen
            C, Pawson T and Colwill K.
  TITLE     Integrative analysis of kinase networks in TRAIL-induced apoptosis
            provides a source of potential targets for combination therapy
  JOURNAL   Sci Signal 8 (371), rs3 (2015)
   PUBMED   25852190
  REMARK    GeneRIF: Two of these kinases that were classified as resistors
            were PX domain-containing serine/threonine kinase (PXK) and
            AP2-associated kinase 1 (AAK1), which promote receptor endocytosis
            and may enable cells to resist TRAIL-induced apoptosis
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 498)
  AUTHORS   Song G, Yan J, Li G and Chen ZJ.
  TITLE     Association between KIAA0319L, PXK and JAZF1 gene polymorphisms and
            unexplained recurrent pregnancy loss in Chinese Han couples
  JOURNAL   Reprod Biomed Online 30 (3), 275-280 (2015)
   PUBMED   25596907
  REMARK    GeneRIF: genetic association study in Han population in China: Data
            suggest an SNP in PXK [rs2176082(C/T); but not rs6445975(G/T)] is
            associated with recurrent pregnancy loss; SNPs in KIAA0319L
            [rs2275247(A/G)] or JAZF1 [rs1635852(C/T)] are not associated.
REFERENCE   4  (residues 1 to 498)
  AUTHORS   Oparina NY, Delgado-Vega AM, Martinez-Bueno M, Magro-Checa C,
            Fernandez C, Castro RO, Pons-Estel BA, D'Alfonso S, Sebastiani GD,
            Witte T, Lauwerys BR, Endreffy E, Kovacs L, Escudero A,
            Lopez-Pedrera C, Vasconcelos C, da Silva BM, Frostegard J,
            Truedsson L, Martin J, Raya E, Ortego-Centeno N, de Los Angeles
            Aguirre M, de Ramon Garrido E, Palma MJ, Alarcon-Riquelme ME and
            Kozyrev SV.
  TITLE     PXK locus in systemic lupus erythematosus: fine mapping and
            functional analysis reveals novel susceptibility gene ABHD6
  JOURNAL   Ann Rheum Dis 74 (3), e14 (2015)
   PUBMED   24534757
  REMARK    GeneRIF: Results confirm the genetic association of the locus
            3p14.3 with systemic lupus erythematosus in Europeans and point to
            the ABHD6 and not PXK, as the major susceptibility gene in the
            region.
REFERENCE   5  (residues 1 to 498)
  AUTHORS   Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, Kochi Y, Ohmura
            K, Suzuki A, Yoshida S, Graham RR, Manoharan A, Ortmann W, Bhangale
            T, Denny JC, Carroll RJ, Eyler AE, Greenberg JD, Kremer JM, Pappas
            DA, Jiang L, Yin J, Ye L, Su DF, Yang J, Xie G, Keystone E, Westra
            HJ, Esko T, Metspalu A, Zhou X, Gupta N, Mirel D, Stahl EA, Diogo
            D, Cui J, Liao K, Guo MH, Myouzen K, Kawaguchi T, Coenen MJ, van
            Riel PL, van de Laar MA, Guchelaar HJ, Huizinga TW, Dieude P,
            Mariette X, Bridges SL Jr, Zhernakova A, Toes RE, Tak PP,
            Miceli-Richard C, Bang SY, Lee HS, Martin J, Gonzalez-Gay MA,
            Rodriguez-Rodriguez L, Rantapaa-Dahlqvist S, Arlestig L, Choi HK,
            Kamatani Y, Galan P, Lathrop M, Eyre S, Bowes J, Barton A, de Vries
            N, Moreland LW, Criswell LA, Karlson EW, Taniguchi A, Yamada R,
            Kubo M, Liu JS, Bae SC, Worthington J, Padyukov L, Klareskog L,
            Gregersen PK, Raychaudhuri S, Stranger BE, De Jager PL, Franke L,
            Visscher PM, Brown MA, Yamanaka H, Mimori T, Takahashi A, Xu H,
            Behrens TW, Siminovitch KA, Momohara S, Matsuda F, Yamamoto K and
            Plenge RM.
  CONSRTM   RACI consortium; GARNET consortium
  TITLE     Genetics of rheumatoid arthritis contributes to biology and drug
            discovery
  JOURNAL   Nature 506 (7488), 376-381 (2014)
   PUBMED   24390342
REFERENCE   6  (residues 1 to 498)
  AUTHORS   Yang W, Ng P, Zhao M, Hirankarn N, Lau CS, Mok CC, Chan TM, Wong
            RW, Lee KW, Mok MY, Wong SN, Avihingsanon Y, Lee TL, Ho MH, Lee PP,
            Wong WH and Lau YL.
  TITLE     Population differences in SLE susceptibility genes: STAT4 and BLK,
            but not PXK, are associated with systemic lupus erythematosus in
            Hong Kong Chinese
  JOURNAL   Genes Immun 10 (3), 219-226 (2009)
   PUBMED   19225526
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 498)
  AUTHORS   Harley JB, Alarcon-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP,
            Moser KL, Tsao BP, Vyse TJ, Langefeld CD, Nath SK, Guthridge JM,
            Cobb BL, Mirel DB, Marion MC, Williams AH, Divers J, Wang W, Frank
            SG, Namjou B, Gabriel SB, Lee AT, Gregersen PK, Behrens TW, Taylor
            KE, Fernando M, Zidovetzki R, Gaffney PM, Edberg JC, Rioux JD,
            Ojwang JO, James JA, Merrill JT, Gilkeson GS, Seldin MF, Yin H,
            Baechler EC, Li QZ, Wakeland EK, Bruner GR, Kaufman KM and Kelly
            JA.
  CONSRTM   International Consortium for Systemic Lupus Erythematosus Genetics
            (SLEGEN)
  TITLE     Genome-wide association scan in women with systemic lupus
            erythematosus identifies susceptibility variants in ITGAM, PXK,
            KIAA1542 and other loci
  JOURNAL   Nat Genet 40 (2), 204-210 (2008)
   PUBMED   18204446
  REMARK    GeneRIF: study presents four new regions having genetic
            associations with systemic lupus erythematosus in women of European
            descent: ITGAM, KIAA1542, PXK and rs10798269
            GeneRIF: Genome-wide association study of gene-disease association.
            (HuGE Navigator)
REFERENCE   8  (residues 1 to 498)
  AUTHORS   Zou X, Qiu G, Chen C, Wu M, Hu Y, Zheng H, Li X, Gu S, Ji C and Mao
            Y.
  TITLE     Expression pattern and subcellular localization of five splice
            isoforms of human PXK
  JOURNAL   Int J Mol Med 16 (4), 701-707 (2005)
   PUBMED   16142408
REFERENCE   9  (residues 1 to 498)
  AUTHORS   Mao H, Ferguson TS, Cibulsky SM, Holmqvist M, Ding C, Fei H and
            Levitan IB.
  TITLE     MONaKA, a novel modulator of the plasma membrane Na,K-ATPase
  JOURNAL   J Neurosci 25 (35), 7934-7943 (2005)
   PUBMED   16135750
  REMARK    GeneRIF: MONaKA modulates brain Na,K-ATPase by binding tightly to
            its beta1 and beta3 subunits, and may thereby participate in the
            regulation of electrical excitability and synaptic transmission
            [MONaKA]
REFERENCE   10 (residues 1 to 498)
  AUTHORS   Caenepeel S, Charydczak G, Sudarsanam S, Hunter T and Manning G.
  TITLE     The mouse kinome: discovery and comparative genomics of all mouse
            protein kinases
  JOURNAL   Proc Natl Acad Sci U S A 101 (32), 11707-11712 (2004)
   PUBMED   15289607
  REMARK    GeneRIF: First described as part of human kinome analysis, named
            Slob after Drosophila ortholog.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC098479.2 and AC135507.2.
            
            Summary: This gene encodes a phox (PX) domain-containing protein
            which may be involved in synaptic transmission and the
            ligand-induced internalization and degradation of epidermal growth
            factors. Variations in this gene may be associated with
            susceptibility to systemic lupus erythematosus (SLE). Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jan 2014].
            
            Transcript Variant: This variant (32) encodes isoform mm.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.30202.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..498
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.3"
     Protein         1..498
                     /product="PX domain-containing protein kinase-like protein
                     isoform mm"
                     /note="PX domain-containing protein kinase-like protein;
                     PX serine/threonine kinase; PX ser/thr kinase v2;
                     modulator of Na,K-ATPase long form"
                     /calculated_mol_wt=56564
     Region          <1..49
                     /region_name="PX_domain"
                     /note="The Phox Homology domain, a phosphoinositide
                     binding module; cl02563"
                     /db_xref="CDD:445832"
     Region          103..409
                     /region_name="SPS1"
                     /note="Serine/threonine protein kinase [Signal
                     transduction mechanisms]; COG0515"
                     /db_xref="CDD:223589"
     Region          115..262
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     CDS             1..498
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /coded_by="NM_001349513.2:503..1999"
                     /note="isoform mm is encoded by transcript variant 32"
                     /db_xref="GeneID:54899"
                     /db_xref="HGNC:HGNC:23326"
                     /db_xref="MIM:611450"
ORIGIN      
        1 mdrefiaerq kglqnylnvi ttnhilsnce lvkkfldpnn ysanyteial qqvsmffrse
       61 pkwevveplk digwrirkky flmkiknqpk erlvlswadl gpdkylsdkd fqclikllps
      121 clhpyiyrvt fatanessal lirmfnekgt lkdliykakp kdpflkkycn pkkiqglelq
      181 qiktygrqil evlkflhdkg fpyghlhasn vmldgdtcrl ldlensllgl psfyrsyfsq
      241 frkintlesv dvhcfghlly emtygrppds vpvdsfppap smavvavles tlsceackng
      301 mptisrllqm plfsdvlltt sekpqfkipt klkealriak eciekrliee qkqihqhrrl
      361 traqshhgse eerkkrkila rkkskrsale nseehsakys nsnnsagsga sspltspssp
      421 tppstsaalg lskrckerdi citstsstst ttssslasce hrgtcpalvs gcewheprgl
      481 aqlhpefpkr nfeesqnl
//
LOCUS       NP_001375017             450 aa            linear   PRI 31-DEC-2022
DEFINITION  general transcription factor II-I repeat domain-containing protein
            2A isoform 13 [Homo sapiens].
ACCESSION   NP_001375017
VERSION     NP_001375017.1
DBSOURCE    REFSEQ: accession NM_001388088.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 450)
  AUTHORS   Serrano-Juarez CA, Venegas-Vega CA, Yanez-Tellez MG,
            Rodriguez-Camacho M, Silva-Pereyra J, Salgado-Ceballos H and
            Prieto-Corona B.
  TITLE     Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome
            With and Without Loss of GTF2IRD2
  JOURNAL   J Int Neuropsychol Soc 24 (9), 896-904 (2018)
   PUBMED   30375319
  REMARK    GeneRIF: atypical Williams Syndrome patients with GTF2IRD2 deletion
            had more impaired visuospatial abilities and more significant
            behavioral problems, mainly related to the construct of social
            cognition
REFERENCE   2  (residues 1 to 450)
  AUTHORS   Dougherty ML, Underwood JG, Nelson BJ, Tseng E, Munson KM, Penn O,
            Nowakowski TJ, Pollen AA and Eichler EE.
  TITLE     Transcriptional fates of human-specific segmental duplications in
            brain
  JOURNAL   Genome Res 28 (10), 1566-1576 (2018)
   PUBMED   30228200
REFERENCE   3  (residues 1 to 450)
  AUTHORS   Gunbin KV and Ruvinsky A.
  TITLE     Evolution of general transcription factors
  JOURNAL   J Mol Evol 76 (1-2), 28-47 (2013)
   PUBMED   23229069
REFERENCE   4  (residues 1 to 450)
  AUTHORS   Palmer SJ, Taylor KM, Santucci N, Widagdo J, Chan YK, Yeo JL, Adams
            M, Gunning PW and Hardeman EC.
  TITLE     GTF2IRD2 from the Williams-Beuren critical region encodes a
            mobile-element-derived fusion protein that antagonizes the action
            of its related family members
  JOURNAL   J Cell Sci 125 (Pt 21), 5040-5050 (2012)
   PUBMED   22899722
REFERENCE   5  (residues 1 to 450)
  AUTHORS   Porter MA, Dobson-Stone C, Kwok JB, Schofield PR, Beckett W and
            Tassabehji M.
  TITLE     A role for transcription factor GTF2IRD2 in executive function in
            Williams-Beuren syndrome
  JOURNAL   PLoS One 7 (10), e47457 (2012)
   PUBMED   23118870
  REMARK    GeneRIF: We provide the first evidence for a role for GTF2IRD2 in
            higher-level (executive functioning) abilities and highlight the
            importance of integrating detailed molecular characterisation of
            patients with comprehensive neuropsychological profiling
REFERENCE   6  (residues 1 to 450)
  AUTHORS   Edelmann,L., Prosnitz,A., Pardo,S., Bhatt,J., Cohen,N., Lauriat,T.,
            Ouchanov,L., Gonzalez,P.J., Manghi,E.R., Bondy,P., Esquivel,M.,
            Monge,S., Delgado,M.F., Splendore,A., Francke,U., Burton,B.K. and
            McInnes,L.A.
  TITLE     An atypical deletion of the Williams-Beuren syndrome interval
            implicates genes associated with defective visuospatial processing
            and autism
  JOURNAL   J Med Genet 44 (2), 136-143 (2007)
   PUBMED   16971481
REFERENCE   7  (residues 1 to 450)
  AUTHORS   Del Campo M, Antonell A, Magano LF, Munoz FJ, Flores R, Bayes M and
            Perez Jurado LA.
  TITLE     Hemizygosity at the NCF1 gene in patients with Williams-Beuren
            syndrome decreases their risk of hypertension
  JOURNAL   Am J Hum Genet 78 (4), 533-542 (2006)
   PUBMED   16532385
REFERENCE   8  (residues 1 to 450)
  AUTHORS   Hinsley TA, Cunliffe P, Tipney HJ, Brass A and Tassabehji M.
  TITLE     Comparison of TFII-I gene family members deleted in Williams-Beuren
            syndrome
  JOURNAL   Protein Sci 13 (10), 2588-2599 (2004)
   PUBMED   15388857
  REMARK    GeneRIF: There is high indentity between CTF2IRD2 and CTF2I, which
            suggests that heterodimers as well as homodimers are possible, and
            indicates overlapping functions between their respective short
            isoforms.
REFERENCE   9  (residues 1 to 450)
  AUTHORS   Makeyev AV, Erdenechimeg L, Mungunsukh O, Roth JJ, Enkhmandakh B,
            Ruddle FH and Bayarsaihan D.
  TITLE     GTF2IRD2 is located in the Williams-Beuren syndrome critical region
            7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix
            repeats
  JOURNAL   Proc Natl Acad Sci U S A 101 (30), 11052-11057 (2004)
   PUBMED   15243160
  REMARK    GeneRIF: GTF2IRD2 genes in mice and humans allows refinement of the
            centromeric breakpoint position of the primate-specific inversion
            within the Williams-Beuren syndrome critical region.
REFERENCE   10 (residues 1 to 450)
  AUTHORS   Tipney HJ, Hinsley TA, Brass A, Metcalfe K, Donnai D and Tassabehji
            M.
  TITLE     Isolation and characterisation of GTF2IRD2, a novel fusion gene and
            member of the TFII-I family of transcription factors, deleted in
            Williams-Beuren syndrome
  JOURNAL   Eur J Hum Genet 12 (7), 551-560 (2004)
   PUBMED   15100712
  REMARK    GeneRIF: Williams-Beuren syndrome patients are hemizygous for the
            GTF2IRD2 gene.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC211424.4 and AC211433.4.
            
            Summary: This gene is one of several closely related genes on
            chromosome 7 encoding proteins containing helix-loop-helix motifs.
            These proteins may function as regulators of transcription. The
            encoded protein is unique in that its C-terminus is derived from
            CHARLIE8 transposable element sequence. This gene is located in a
            region of chromosome 7 that is deleted in Williams-Beuren syndrome,
            and loss of this locus may contribute to the cognitive phenotypes
            observed in this disease. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jul 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.3436522.1,
                                           SRR11853564.24683.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..450
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     Protein         1..450
                     /product="general transcription factor II-I repeat
                     domain-containing protein 2A isoform 13"
                     /note="general transcription factor II-I repeat
                     domain-containing protein 2A; general transcription factor
                     II i repeat domain 2 alpha; transcription factor
                     GTF2IRD2-alpha; GTF2I repeat domain-containing protein 2A;
                     GTF2I repeat domain-containing protein 2, alpha"
                     /calculated_mol_wt=49201
     Region          98..192
                     /region_name="GTF2I-like 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86UP8.3)"
     Region          107..181
                     /region_name="GTF2I"
                     /note="GTF2I-like repeat; pfam02946"
                     /db_xref="CDD:427072"
     Region          332..404
                     /region_name="GTF2I"
                     /note="GTF2I-like repeat; pfam02946"
                     /db_xref="CDD:427072"
     CDS             1..450
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /coded_by="NM_001388088.1:245..1597"
                     /note="isoform 13 is encoded by transcript variant 13"
                     /db_xref="GeneID:84163"
                     /db_xref="HGNC:HGNC:30775"
                     /db_xref="MIM:608899"
ORIGIN      
        1 maqvavstlp veeesssetr mvvtflvsal esmckelaks kaevaciavy etdvfvvgte
       61 rgcafvnart dfqkdfakyc vaeglcevkp pcpvngmqvh sgeteilrka vedyfcfcyg
      121 kalgttvmvp vpyekmlrdq savvvqglpe gvafqhpeny dlatlkwile nkagisfiin
      181 rpflgpesql ggpgmvtdae rsivspsesc gpinvktepm edsgislkae avsvkkesed
      241 pnyyqynmqg shpsstsnev iemelpmeds tplvpseepn edpeaevkie gntnsssvtn
      301 saagvedlni vqvtvpdnek erlssiekik qlreqvndlf srkfgeaigv dfpvkvpyrk
      361 itfnpgcvvi dgmppgvvfk apgyleissm rrileaaefi kftvisgktq drpggpcvsr
      421 kvgesvflrg steysnmshm qtkhvcvqri
//
LOCUS       NP_001307102             670 aa            linear   PRI 22-JAN-2023
DEFINITION  armadillo-like helical domain-containing protein 4 isoform 2
            precursor [Homo sapiens].
ACCESSION   NP_001307102 XP_006720114
VERSION     NP_001307102.1
DBSOURCE    REFSEQ: accession NM_001320173.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 670)
  AUTHORS   De Luca F, Kha M, Sward K and Johansson ME.
  TITLE     Identification of ARMH4 and WIPF3 as human podocyte proteins with
            potential roles in immunomodulation and cytoskeletal dynamics
  JOURNAL   PLoS One 18 (1), e0280270 (2023)
   PUBMED   36649229
  REMARK    GeneRIF: Identification of ARMH4 and WIPF3 as human podocyte
            proteins with potential roles in immunomodulation and cytoskeletal
            dynamics.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 670)
  AUTHORS   Lee,D., Wang,Y.H., Kalaitzidis,D., Ramachandran,J., Eda,H.,
            Sykes,D.B., Raje,N. and Scadden,D.T.
  TITLE     Endogenous transmembrane protein UT2 inhibits pSTAT3 and suppresses
            hematological malignancy
  JOURNAL   J Clin Invest 126 (4), 1300-1310 (2016)
   PUBMED   26927669
REFERENCE   3  (residues 1 to 670)
  AUTHORS   Chung SA, Brown EE, Williams AH, Ramos PS, Berthier CC, Bhangale T,
            Alarcon-Riquelme ME, Behrens TW, Criswell LA, Graham DC, Demirci
            FY, Edberg JC, Gaffney PM, Harley JB, Jacob CO, Kamboh MI, Kelly
            JA, Manzi S, Moser-Sivils KL, Russell LP, Petri M, Tsao BP, Vyse
            TJ, Zidovetzki R, Kretzler M, Kimberly RP, Freedman BI, Graham RR
            and Langefeld CD.
  CONSRTM   International Consortium for Systemic Lupus Erythematosus Genetics
  TITLE     Lupus nephritis susceptibility loci in women with systemic lupus
            erythematosus
  JOURNAL   J Am Soc Nephrol 25 (12), 2859-2870 (2014)
   PUBMED   24925725
REFERENCE   4  (residues 1 to 670)
  AUTHORS   Lee D, Sykes SM, Kalaitzidis D, Lane AA, Kfoury Y, Raaijmakers MH,
            Wang YH, Armstrong SA and Scadden DT.
  TITLE     Transmembrane Inhibitor of RICTOR/mTORC2 in Hematopoietic
            Progenitors
  JOURNAL   Stem Cell Reports 3 (5), 832-840 (2014)
   PUBMED   25418727
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA126898.1, BX161448.1 and AL121579.4.
            On Feb 13, 2016 this sequence version replaced XP_006720114.1.
            
            Transcript Variant: This variant (2) includes an alternate
            penultimate exon, compared to variant 1, resulting in a novel 3'
            coding region. It encodes isoform 2 which has a distinct
            C-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX161448.1, SRR14038195.1326654.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..670
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.1"
     Protein         1..670
                     /product="armadillo-like helical domain-containing protein
                     4 isoform 2 precursor"
                     /note="uncharacterized protein C14orf37; upstream of
                     mTORC2; armadillo-like helical domain-containing protein
                     4"
                     /calculated_mol_wt=69165
     sig_peptide     1..27
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2921
     Region          28..610
                     /region_name="DUF4696"
                     /note="Domain of unknown function (DUF4696); pfam15767"
                     /db_xref="CDD:434920"
     Region          41..63
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TY3.1)"
     Site            57
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q86TY3.1)"
     Region          97..135
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TY3.1)"
     Site            189
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q86TY3.1)"
     Region          221..275
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TY3.1)"
     CDS             1..670
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /coded_by="NM_001320173.3:196..2208"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="GeneID:145407"
                     /db_xref="HGNC:HGNC:19846"
ORIGIN      
        1 mrgpivlhic lafcslllfs vatqclafpk ierrreiahv haekgqsdkm ntddlenssv
       61 tskqtpqlvv sedpmmmsav psatslnkaf sinketqpgq aglmqterpg vstptesgvp
      121 saeevfgssq perispesgl akamltiait atpsltvdek eelltstnfq piveeitett
      181 kgflkymdnq sfatesqegv glghspssyv ntkemlttnp ktekfeadtd hrttsfpgae
      241 stagsepgsl tpdkekpsqm tadntqaaat kqpletseyt lsvepetdsl lgapevtvsv
      301 stavpaasal sdewddtkle svsrirtpkl gdneetqvrt emsqtaqvsh egmeggqpwt
      361 eaaqvalglp egethtgtal liahgnersp aftdqssftp tslmedmkvs ivnllqstgd
      421 ftestkenda lfflettvsv svyeseadql lgntmkdiit qemttavqep datlsmvtqe
      481 qvatlelird sgkteeeked pspvsdvpgv tqlsrrwepl attisttvvp lsfevtptve
      541 eqmdtvtgpn eeftpvlgsp vtppgimvge psispalpal easserrtvv psitrvntaa
      601 sygldqlese etgfhhvaqa rlkllglrsl pasasqsvgi tsvnsctqpr kylnsclkwk
      661 lnpkhfatgv
//
LOCUS       NP_001397796            1966 aa            linear   PRI 29-JAN-2023
DEFINITION  GREB1-like protein isoform 1 [Homo sapiens].
ACCESSION   NP_001397796 XP_047293768
VERSION     NP_001397796.1
DBSOURCE    REFSEQ: accession NM_001410867.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1966)
  AUTHORS   Wu S, Wang X, Dai S, Zhang G, Zhou J and Shen Y.
  TITLE     A novel missense mutation in GREB1L identified in a
            three-generation family with renal hypodysplasia/aplasia-3
  JOURNAL   Orphanet J Rare Dis 17 (1), 413 (2022)
   PUBMED   36371238
  REMARK    GeneRIF: A novel missense mutation in GREB1L identified in a
            three-generation family with renal hypodysplasia/aplasia-3.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1966)
  AUTHORS   Adadey SM, Aboagye ET, Esoh K, Acharya A, Bharadwaj T, Lin NS,
            Amenga-Etego L, Awandare GA, Schrauwen I, Leal SM and Wonkam A.
  TITLE     A novel autosomal dominant GREB1L variant associated with
            non-syndromic hearing impairment in Ghana
  JOURNAL   BMC Med Genomics 15 (1), 237 (2022)
   PUBMED   36357908
  REMARK    GeneRIF: A novel autosomal dominant GREB1L variant associated with
            non-syndromic hearing impairment in Ghana.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1966)
  AUTHORS   De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F,
            Fouquet S, Desgrange A, Niel O, Bole-Feysot C, Nitschke P, Roume J,
            Cordier MP, Pietrement C, Isidor B, Khau Van Kien P, Gonzales M,
            Saint-Frison MH, Martinovic J, Novo R, Piard J, Cabrol C, Verma IC,
            Puri R, Journel H, Aziza J, Gavard L, Said-Menthon MH, Heidet L,
            Saunier S and Jeanpierre C.
  TITLE     Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and
            Mice
  JOURNAL   Am J Hum Genet 101 (5), 803-814 (2017)
   PUBMED   29100091
REFERENCE   4  (residues 1 to 1966)
  AUTHORS   Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L,
            Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K,
            Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE,
            Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A,
            Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante
            M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S,
            Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi
            C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A,
            Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N,
            Davis EE and Gharavi AG.
  TITLE     Exome-wide Association Study Identifies GREB1L Mutations in
            Congenital Kidney Malformations
  JOURNAL   Am J Hum Genet 101 (5), 789-802 (2017)
   PUBMED   29100090
  REMARK    Erratum:[Am J Hum Genet. 2017 Dec 7;101(6):1034. PMID: 29220675]
REFERENCE   5  (residues 1 to 1966)
  AUTHORS   Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X,
            Clarke JC, Peterson KA, Denegre J, Schneider M, Sussman CR, Sunde
            L, Lildballe DL, Hertz JM, Cornell RA, Murray SA and Manak JR.
  TITLE     A Gene Implicated in Activation of Retinoic Acid Receptor Targets
            Is a Novel Renal Agenesis Gene in Humans
  JOURNAL   Genetics 207 (1), 215-228 (2017)
   PUBMED   28739660
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022809.6, AC015878.7 and AC011774.9.
            On Aug 17, 2022 this sequence version replaced XP_047293768.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853561.13765.1,
                                           SRR14038197.1208488.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144120, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1966
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q11.1-q11.2"
     Protein         1..1966
                     /product="GREB1-like protein isoform 1"
                     /note="GREB1-like protein; growth regulation by estrogen
                     in breast cancer-like; growth regulation by estrogen in
                     breast cancer 1-like protein; growth regulation by
                     estrogen in breast cancer 1 like"
                     /calculated_mol_wt=218612
     Region          1..1966
                     /region_name="GREB1"
                     /note="Gene regulated by oestrogen in breast cancer;
                     pfam15782"
                     /db_xref="CDD:434933"
     CDS             1..1966
                     /gene="GREB1L"
                     /gene_synonym="C18orf6; DFNA80; KIAA1772; RHDA3"
                     /coded_by="NM_001410867.1:282..6182"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS92442.1"
                     /db_xref="GeneID:80000"
                     /db_xref="HGNC:HGNC:31042"
                     /db_xref="MIM:617782"
ORIGIN      
        1 mgnsyagqlk sarfeealhn sieaslrcss vvprpifsql yldpdqhpfs sadvkpkved
       61 ldkdlvnryt qngsldfsnn ltvnemedde ddeemsdsns ppipysqkpa pegscttdgf
      121 cqagkdlrlv slcmeqidip agfllvgaks pnlpehilvc avdkrflpdd hgknallgfs
      181 gncigcgerg fryftefsnh inlklttqpk kqkhlkyylv rssqgvlskg plicwkecrs
      241 rqssaschsi kpsssvsstv tpengttngy ksgftqtdsp ilspansain lsgaqdltrn
      301 nnvvkplals lqvvgktfaa daangnsshg gkgsassstp ahtgnyslsp rpsyasgdqa
      361 tmfisgppkk rhrgwypgsp lpqpglvvpv ptvrplsrte pllsapvpqt pltgilqprp
      421 ipagetvivp enllsnsgvr pviligygtl pyfygnvgdi vvspllvncy kipqlenkdl
      481 eklgltgsqf lsvenmillt iqylvrlgpd qvplreefeq imlkamqeft lreralqiga
      541 qcvpvspgql pwlarliasv sqdlvhvvvt qnslaegise tlrtlsemrh yqrlpdyvvv
      601 icaskirgne fcvvvlgqhq sralaesmlt tseflkeisy elitgkvsfl ashfkttslg
      661 ddldkllekm qqrrgdsvvt pfdgdlnecv spqeaaamip tqnldldnet fhiyqpqltv
      721 arkllsqvca iadsgsqsld lghfskvdfi iivprsevlv qqtlqrirqs gvlvdlglee
      781 ngtahqraek yvvrldneiq tkfevfmrrv kqnpytlfvl vhdnshvelt svisgslshs
      841 epshgladrv increvleaf nllvlqvssf pytlqtqqsr isssnevhwi qldtgedvgc
      901 eeklyfglse yskslqwgit spllrcdetf ekmvntller yprlhsmvvr cylliqqyse
      961 almalttmas lrdhstpetl simddlissp gknksgrghm liirvpsvql amlakerlqe
     1021 vrdklglqyr feiilgnpat elsvathfva rlkswrgnep eewiprtyqd ldglpcivil
     1081 tgkdplgetf prslkycdlr lidssyltrt aleqevglac cyvskevirg ptvaldlsgk
     1141 eqeraavsen dsdellidle rpqsnssavt gtsgsimeng vsssstadks qkqsltpsfq
     1201 spatslglde gvsassagag agetlkqecd slgpqmasst tskpsssssg prtlpwpgqp
     1261 irgcrgpqaa lppvvilska aysllgsqks gklpssssll phadvawvss lrpllnkdms
     1321 seeqslyyrq wtlarqhhad ysnqldpasg trnfhprrll ltgppqvgkt gsylqflril
     1381 frmlirllev dvydeeeint dhnessevsq segepwpdie sfskmpfdvs vhdpkyslms
     1441 lvyteklagv kqevikeskv eeprkretvs imltkyaayn tfhhceqcrq ymdftsasqm
     1501 sdstlhaftf sssmlgeevq lyfiipkske shfvfskqgk hlesmrlplv sdknlnavks
     1561 piftpssgrh ehgllnlfha megishlhll vvkeyemply rkywpnhiml vlpgmfnnag
     1621 vgaarflike lsyhnleler nrleelgikr qcvwpfivmm ddscvlwnih svqepssqpm
     1681 evgvssknvs lktvlqhiea tpkivhyail giqkwssklt sqslkapfsr chvhdfilln
     1741 tdltqnvqyd fnryfcedad fnlrtnssgl licrfnnfsl mkkhvqvggq rdfiikpkim
     1801 vseslapilp lqyicapdse htllaapaqf llekflqhas yklfpkaihn frspvlaidc
     1861 ylnigpevai cyissrphss nvncegvffs glllylcdsf vgadlkkfkf lkgatlcvic
     1921 qdrsslrqti vrleledewq frlrdefqta nssddkplyf ltgrhv
//
LOCUS       NP_001401588             520 aa            linear   PRI 21-FEB-2023
DEFINITION  CCR4-NOT transcription complex subunit 2 isoform e [Homo sapiens].
ACCESSION   NP_001401588
VERSION     NP_001401588.1
DBSOURCE    REFSEQ: accession NM_001414659.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 520)
  AUTHORS   Jung JH, Lee D, Ko HM and Jang HJ.
  TITLE     Inhibition of CNOT2 Induces Apoptosis via MID1IP1 in Colorectal
            Cancer Cells by Activating p53
  JOURNAL   Biomolecules 11 (10), 1492 (2021)
   PUBMED   34680125
  REMARK    GeneRIF: Inhibition of CNOT2 Induces Apoptosis via MID1IP1 in
            Colorectal Cancer Cells by Activating p53.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 520)
  AUTHORS   Royer-Bertrand B, Cisarova K, Niel Butschi F, Foletti G, Guinchat
            V, Tran C, Superti-Furga A and Good JM.
  TITLE     CNOT2 haploinsufficiency in a 40-year-old man with intellectual
            disability, autism, and seizures
  JOURNAL   Am J Med Genet A 185 (8), 2602-2606 (2021)
   PUBMED   34018673
  REMARK    GeneRIF: CNOT2 haploinsufficiency in a 40-year-old man with
            intellectual disability, autism, and seizures.
            Review article
REFERENCE   3  (residues 1 to 520)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 520)
  AUTHORS   Kim EO, Kang SE, Choi M, Rhee KJ and Yun M.
  TITLE     CCR4-NOT transcription complex subunit 2 regulates TRAIL
            sensitivity in non-small-cell lung cancer cells via the STAT3
            pathway
  JOURNAL   Int J Mol Med 45 (2), 324-332 (2020)
   PUBMED   31894259
  REMARK    GeneRIF: CCR4NOT transcription complex subunit 2 regulates TRAIL
            sensitivity in nonsmallcell lung cancer cells via the STAT3
            pathway.
REFERENCE   5  (residues 1 to 520)
  AUTHORS   Jayne S, Zwartjes CG, van Schaik FM and Timmers HT.
  TITLE     Involvement of the SMRT/NCoR-HDAC3 complex in transcriptional
            repression by the CNOT2 subunit of the human Ccr4-Not complex
  JOURNAL   Biochem J 398 (3), 461-467 (2006)
   PUBMED   16712523
  REMARK    GeneRIF: This study shows that SMRT/NCoR-HDAC3 complex is a
            cofactor of CNOT2-mediated repression and suggests that
            transcriptional regulation by the Ccr4-Not complex involves
            regulation of chromatin modification.
REFERENCE   6  (residues 1 to 520)
  AUTHORS   Winkler GS, Mulder KW, Bardwell VJ, Kalkhoven E and Timmers HT.
  TITLE     Human Ccr4-Not complex is a ligand-dependent repressor of nuclear
            receptor-mediated transcription
  JOURNAL   EMBO J 25 (13), 3089-3099 (2006)
   PUBMED   16778766
REFERENCE   7  (residues 1 to 520)
  AUTHORS   Shi J and Nelson MA.
  TITLE     The cyclin-dependent kinase 11 interacts with NOT2
  JOURNAL   Biochem Biophys Res Commun 334 (4), 1310-1316 (2005)
   PUBMED   16039607
  REMARK    GeneRIF: These findings suggest that CDK11 may contribute to
            apoptosis by regulating the activity of NOT2 independent of its
            kinase activity.
REFERENCE   8  (residues 1 to 520)
  AUTHORS   Zwartjes CG, Jayne S, van den Berg DL and Timmers HT.
  TITLE     Repression of promoter activity by CNOT2, a subunit of the
            transcription regulatory Ccr4-not complex
  JOURNAL   J Biol Chem 279 (12), 10848-10854 (2004)
   PUBMED   14707134
  REMARK    GeneRIF: major repression function of CNOT2 is localized in a
            specialized protein motif, the Not-Box
REFERENCE   9  (residues 1 to 520)
  AUTHORS   Denis CL and Chen J.
  TITLE     The CCR4-NOT complex plays diverse roles in mRNA metabolism
  JOURNAL   Prog Nucleic Acid Res Mol Biol 73, 221-250 (2003)
   PUBMED   12882519
  REMARK    Review article
REFERENCE   10 (residues 1 to 520)
  AUTHORS   Albert TK, Lemaire M, van Berkum NL, Gentz R, Collart MA and
            Timmers HT.
  TITLE     Isolation and characterization of human orthologs of yeast CCR4-NOT
            complex subunits
  JOURNAL   Nucleic Acids Res 28 (3), 809-817 (2000)
   PUBMED   10637334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092881.8 and AC025569.37.
            
            Summary: This gene encodes a subunit of the multi-component
            CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and
            degradation and is also thought to be involved in mRNA splicing,
            transport and localization. The encoded protein interacts with
            histone deacetylases and functions as a repressor of polymerase II
            transcription. Alternatively spliced transcript variants have been
            observed for this gene. [provided by RefSeq, Dec 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.2232196.1,
                                           SRR14038191.1471138.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2156670 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..520
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q15"
     Protein         1..520
                     /product="CCR4-NOT transcription complex subunit 2 isoform
                     e"
                     /note="negative regulator of transcription 2;
                     CCR4-associated factor 2; CC chemokine receptor 4-negative
                     regulator of transcription 2"
                     /calculated_mol_wt=57288
     Region          376..499
                     /region_name="NOT2_3_5"
                     /note="NOT2 / NOT3 / NOT5 family; pfam04153"
                     /db_xref="CDD:427750"
     CDS             1..520
                     /gene="CNOT2"
                     /gene_synonym="CDC36; HSPC131; IDNADFS; NOT2; NOT2H"
                     /coded_by="NM_001414659.1:365..1927"
                     /note="isoform e is encoded by transcript variant 13"
                     /db_xref="GeneID:4848"
                     /db_xref="HGNC:HGNC:7878"
                     /db_xref="MIM:604909"
ORIGIN      
        1 mfgasrkkfv egvdsdyhde nmyysqssmf phrsekdmla spstsgqlsq fgaslygqqs
       61 alglpmrgms nntpqlnrsl sqgtqlpshv tpttgvptms lhtppspsrg ilpmnprnmm
      121 nhsqvgqgig ipsrtnsmss sglgspnrss psiicmpkqq psrqpftvns msgfgmnrnq
      181 afgmnnslss nifngtdgse nvtgldlsdf paladrnrre gsgnptplin plagrapyvg
      241 mvtkpaneqs qdfsihnedf palpgssykd ptssnddsks nlntsgktts stdgpkfpgd
      301 kssttqnnnq qkkgiqvlpd grvtnipqgm vtdqfgmigl ltfiraaetd pgmvhlalgs
      361 dlttlglnln spenlypkfa spwasspcrp qdidfhvpse yltnihirdk laaiklgryg
      421 edllfylyym nggdvlqlla avelfnrdwr yhkeervwit rapgmeptmk tntyergtyy
      481 ffdclnwrkv akefhleydk leerphlpst fnynpaqqaf
//
LOCUS       NP_001354872             619 aa            linear   PRI 26-FEB-2023
DEFINITION  transcription factor 7-like 2 isoform 17 [Homo sapiens].
ACCESSION   NP_001354872 XP_005270141
VERSION     NP_001354872.1
DBSOURCE    REFSEQ: accession NM_001367943.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 619)
  AUTHORS   Mitroi AF, Leopa N, Dumitru E, Dumitru A, Tocia C, Popescu I,
            Mitroi A and Popescu RC.
  TITLE     TCF7L2, CASC8, and GREM1 polymorphism and colorectal cancer in
            south-eastern Romanian population
  JOURNAL   Medicine (Baltimore) 102 (7), e33056 (2023)
   PUBMED   36800588
  REMARK    GeneRIF: TCF7L2, CASC8, and GREM1 polymorphism and colorectal
            cancer in south-eastern Romanian population.
REFERENCE   2  (residues 1 to 619)
  AUTHORS   Frohlich J, Rose K and Hecht A.
  TITLE     Transcriptional activity mediated by beta-CATENIN and TCF/LEF
            family members is completely dispensable for survival and
            propagation of multiple human colorectal cancer cell lines
  JOURNAL   Sci Rep 13 (1), 287 (2023)
   PUBMED   36609428
  REMARK    GeneRIF: Transcriptional activity mediated by beta-CATENIN and
            TCF/LEF family members is completely dispensable for survival and
            propagation of multiple human colorectal cancer cell lines.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 619)
  AUTHORS   Del Bosque-Plata L, Amin M, Wu R, Postolache TT and Gragnoli C.
  TITLE     Novel TCF7L2 familial linkage and association with Type 2 diabetes,
            depression, and their comorbidity
  JOURNAL   Eur Rev Med Pharmacol Sci 27 (2), 694-703 (2023)
   PUBMED   36734726
  REMARK    GeneRIF: Novel TCF7L2 familial linkage and association with Type 2
            diabetes, depression, and their comorbidity.
REFERENCE   4  (residues 1 to 619)
  AUTHORS   Salauddin A, Chakma K, Hasan MM, Akter F, Chowdhury NA, Chowdhury
            SR and Mannan A.
  TITLE     Association between TCF7L2 polymorphism and type 2 diabetes
            mellitus susceptibility: a case-control study among the Bangladeshi
            population
  JOURNAL   Mol Biol Rep 50 (1), 609-619 (2023)
   PUBMED   36369331
  REMARK    GeneRIF: Association between TCF7L2 polymorphism and type 2
            diabetes mellitus susceptibility: a case-control study among the
            Bangladeshi population.
REFERENCE   5  (residues 1 to 619)
  AUTHORS   Vacik,T. and Lemke,G.
  TITLE     Dominant-negative isoforms of Tcf/Lef proteins in development and
            disease
  JOURNAL   Cell Cycle 10 (24), 4199-4200 (2011)
   PUBMED   22157225
REFERENCE   6  (residues 1 to 619)
  AUTHORS   Vacik T, Stubbs JL and Lemke G.
  TITLE     A novel mechanism for the transcriptional regulation of Wnt
            signaling in development
  JOURNAL   Genes Dev 25 (17), 1783-1795 (2011)
   PUBMED   21856776
REFERENCE   7  (residues 1 to 619)
  AUTHORS   He TC, Sparks AB, Rago C, Hermeking H, Zawel L, da Costa LT, Morin
            PJ, Vogelstein B and Kinzler KW.
  TITLE     Identification of c-MYC as a target of the APC pathway
  JOURNAL   Science 281 (5382), 1509-1512 (1998)
   PUBMED   9727977
REFERENCE   8  (residues 1 to 619)
  AUTHORS   Morin PJ, Sparks AB, Korinek V, Barker N, Clevers H, Vogelstein B
            and Kinzler KW.
  TITLE     Activation of beta-catenin-Tcf signaling in colon cancer by
            mutations in beta-catenin or APC
  JOURNAL   Science 275 (5307), 1787-1790 (1997)
   PUBMED   9065402
REFERENCE   9  (residues 1 to 619)
  AUTHORS   Korinek V, Barker N, Morin PJ, van Wichen D, de Weger R, Kinzler
            KW, Vogelstein B and Clevers H.
  TITLE     Constitutive transcriptional activation by a beta-catenin-Tcf
            complex in APC-/- colon carcinoma
  JOURNAL   Science 275 (5307), 1784-1787 (1997)
   PUBMED   9065401
REFERENCE   10 (residues 1 to 619)
  AUTHORS   Castrop J, van Norren K and Clevers H.
  TITLE     A gene family of HMG-box transcription factors with homology to
            TCF-1
  JOURNAL   Nucleic Acids Res 20 (3), 611 (1992)
   PUBMED   1741298
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA590466.1, BQ900611.1,
            HM352850.1, BM701919.1, BC032656.1, BU619467.1, DA394991.1 and
            Z99386.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 1, 2019 this sequence version replaced XP_005270141.1.
            
            Summary: This gene encodes a high mobility group (HMG)
            box-containing transcription factor that plays a key role in the
            Wnt signaling pathway. The protein has been implicated in blood
            glucose homeostasis. Genetic variants of this gene are associated
            with increased risk of type 2 diabetes. Several transcript variants
            encoding multiple different isoforms have been found for this
            gene.[provided by RefSeq, Oct 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HM352850.1, SRR14038191.2289920.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355995.9/ ENSP00000348274.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..619
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.2-q25.3"
     Protein         1..619
                     /product="transcription factor 7-like 2 isoform 17"
                     /note="transcription factor 7-like 2 (T-cell specific,
                     HMG-box); hTCF-4; T-cell factor 4; HMG box transcription
                     factor 4; T-cell-specific transcription factor 4"
                     /calculated_mol_wt=67788
     Region          1..96
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQB0.2)"
     Region          1..53
                     /region_name="CTNNB1-binding. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQB0.2)"
     Region          17..259
                     /region_name="CTNNB1_binding"
                     /note="N-terminal CTNNB1 binding; pfam08347"
                     /db_xref="CDD:429937"
     Region          201..395
                     /region_name="Mediates interaction with MAD2L2.
                     /evidence=ECO:0000269|PubMed:19443654"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQB0.2)"
     Site            201
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by NLK.
                     /evidence=ECO:0000305|PubMed:12556497; propagated from
                     UniProtKB/Swiss-Prot (Q9NQB0.2)"
     Site            212
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by NLK.
                     /evidence=ECO:0000305|PubMed:12556497; propagated from
                     UniProtKB/Swiss-Prot (Q9NQB0.2)"
     Region          318..350
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQB0.2)"
     Region          349..433
                     /region_name="HMG-box_TCF7-like"
                     /note="high mobility group (HMG)-box found in the
                     transcription factor 7 (TCF-7)-like family; cd21996"
                     /db_xref="CDD:438812"
     Site            order(349,351..358,361..362,365,375..378,381..382,385,400,
                     404,407,418..433)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438812"
     Region          420..441
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQB0.2)"
     Region          425..430
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQB0.2)"
     Region          459..505
                     /region_name="Promoter-specific activation domain"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQB0.2)"
     Region          496..547
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQB0.2)"
     Region          574..619
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQB0.2)"
     CDS             1..619
                     /gene="TCF7L2"
                     /gene_synonym="TCF-4; TCF4"
                     /coded_by="NM_001367943.1:511..2370"
                     /note="isoform 17 is encoded by transcript variant 17"
                     /db_xref="CCDS:CCDS91348.1"
                     /db_xref="GeneID:6934"
                     /db_xref="HGNC:HGNC:11641"
                     /db_xref="MIM:602228"
ORIGIN      
        1 mpqlnggggd dlgandelis fkdegeqeek ssenssaerd ladvksslvn esetnqnsss
       61 dseaerrppp rsesfrdksr esleeaakrq dgglfkgppy pgypfimipd ltspylpngs
      121 lsptartlhf qsgsthysay ktiehqiavq ylqmkwplld vqagslqsrq alkdarspsp
      181 ahivsnkvpv vqhphhvhpl tplitysneh ftpgnppphl padvdpktgi prpphppdis
      241 pyyplspgtv gqiphplgwl vpqqgqpvyp ittggfrhpy ptaltvnasm srfpphmvpp
      301 hhtlhttgip hpaivtptvk qessqsdvgs lhsskhqdsk keeekkkphi kkplnafmly
      361 mkemrakvva ectlkesaai nqilgrrwha lsreeqakyy elarkerqlh mqlypgwsar
      421 dnygkkkkrk rdkqpgetne hsecflnpcl slppitdlsa pkkcrarfgl dqqnnwcgpc
      481 rrkkkcvryi qgegsclspp ssdgslldsp ppspnllgsp prdaksqteq tqplslslkp
      541 dplahlsmmp pppalllaea thkasalcpn galdlppaal qpaapsssia qpstsslhsh
      601 sslagtqpqp lslvtksle
//
LOCUS       NP_001387255             493 aa            linear   PRI 11-MAR-2023
DEFINITION  spermatogenesis-defective protein 39 homolog isoform 1 [Homo
            sapiens].
ACCESSION   NP_001387255
VERSION     NP_001387255.1
DBSOURCE    REFSEQ: accession NM_001400326.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 493)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 493)
  AUTHORS   Solinger JA, Rashid HO, Prescianotto-Baschong C and Spang A.
  TITLE     FERARI is required for Rab11-dependent endocytic recycling
  JOURNAL   Nat Cell Biol 22 (2), 213-224 (2020)
   PUBMED   31988382
  REMARK    GeneRIF: The Rab-binding module of FERARI (factors for endosome
            recycling and Rab interactions) consists of Rab11FIP5 and
            rabenosyn-5, while the SNARE-interacting module comprises VPS45 and
            VIPAS39.
REFERENCE   3  (residues 1 to 493)
  AUTHORS   Ambrosio AL and Di Pietro SM.
  TITLE     Mechanism of platelet alpha-granule biogenesis: study of cargo
            transport and the VPS33B-VPS16B complex in a model system
  JOURNAL   Blood Adv 3 (17), 2617-2626 (2019)
   PUBMED   31501156
  REMARK    GeneRIF: Mechanism of platelet alpha-granule biogenesis: study of
            cargo transport and the VPS33B-VPS16B complex in a model system.
REFERENCE   4  (residues 1 to 493)
  AUTHORS   Hunter MR, Hesketh GG, Benedyk TH, Gingras AC and Graham SC.
  TITLE     Proteomic and Biochemical Comparison of the Cellular Interaction
            Partners of Human VPS33A and VPS33B
  JOURNAL   J Mol Biol 430 (14), 2153-2163 (2018)
   PUBMED   29778605
REFERENCE   5  (residues 1 to 493)
  AUTHORS   Shagrani M, Burkholder J, Broering D, Abouelhoda M, Faquih T,
            El-Kalioby M, Subhani SN, Goljan E, Albar R, Monies D, Mazhar N,
            AlAbdulaziz BS, Abdelrahman KA, Altassan N and Alkuraya FS.
  TITLE     Genetic profiling of children with advanced cholestatic liver
            disease
  JOURNAL   Clin Genet 92 (1), 52-61 (2017)
   PUBMED   28039895
  REMARK    GeneRIF: A likely causal mutation was identified in the majority
            (61%), spanning many genes including ones that have only rarely
            been reported to cause cholestatic liver disease, e.g. TJP2 and
            VIPAS39
REFERENCE   6  (residues 1 to 493)
  AUTHORS   Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y,
            Bruce CK, Luo G, Rahman F, Gurakan F, Utine E, Ozkan TB, Denecke J,
            Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG,
            Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Muller F,
            Maher ER and Gissen P.
  TITLE     Mutations in VIPAR cause an arthrogryposis, renal dysfunction and
            cholestasis syndrome phenotype with defects in epithelial
            polarization
  JOURNAL   Nat Genet 42 (4), 303-312 (2010)
   PUBMED   20190753
  REMARK    Erratum:[Nat Genet. 2011 Mar;43(3):277]
REFERENCE   7  (residues 1 to 493)
  AUTHORS   Zhu GD, Salazar G, Zlatic SA, Fiza B, Doucette MM, Heilman CJ,
            Levey AI, Faundez V and L'hernault SW.
  TITLE     SPE-39 family proteins interact with the HOPS complex and function
            in lysosomal delivery
  JOURNAL   Mol Biol Cell 20 (4), 1223-1240 (2009)
   PUBMED   19109425
  REMARK    GeneRIF: SPE-39 homologues are present in RAB5-, RAB7-, and
            RAB11-positive endosomes where they play a conserved role in
            lysosomal delivery and probably function via their interaction with
            the core HOPS complex.
REFERENCE   8  (residues 1 to 493)
  AUTHORS   Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM,
            Polakiewicz RD and Comb MJ.
  TITLE     Immunoaffinity profiling of tyrosine phosphorylation in cancer
            cells
  JOURNAL   Nat Biotechnol 23 (1), 94-101 (2005)
   PUBMED   15592455
REFERENCE   9  (residues 1 to 493)
  AUTHORS   Ballif BA, Villen J, Beausoleil SA, Schwartz D and Gygi SP.
  TITLE     Phosphoproteomic analysis of the developing mouse brain
  JOURNAL   Mol Cell Proteomics 3 (11), 1093-1101 (2004)
   PUBMED   15345747
REFERENCE   10 (residues 1 to 493)
  AUTHORS   Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C,
            Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A,
            Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H,
            Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon
            O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere
            F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R,
            Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A,
            Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S,
            Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C,
            Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S,
            Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C,
            Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P,
            Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois
            M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V,
            Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J,
            Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F,
            Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F,
            Waterston R, Hood L and Weissenbach J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF111168.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.1688056.1,
                                           SRR18074969.1582711.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..493
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     Protein         1..493
                     /product="spermatogenesis-defective protein 39 homolog
                     isoform 1"
                     /note="VPS33B-interacting protein involved in polarity and
                     apical protein restriction; spermatogenesis-defective
                     protein 39 homolog"
                     /calculated_mol_wt=56874
     Site            21
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H9C1.1)"
     Region          68..99
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9C1.1)"
     Site            117
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8BGQ1; propagated from
                     UniProtKB/Swiss-Prot (Q9H9C1.1)"
     Site            121
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9H9C1.1)"
     Region          123..152
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9C1.1)"
     Site            124
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H9C1.1)"
     Site            130
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H9C1.1)"
     Site            132
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9H9C1.1)"
     CDS             1..493
                     /gene="VIPAS39"
                     /gene_synonym="C14orf133; hSPE-39; SPE-39; SPE39; VIPAR;
                     VPS16B"
                     /coded_by="NM_001400326.1:427..1908"
                     /note="isoform 1 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS9862.1"
                     /db_xref="GeneID:63894"
                     /db_xref="HGNC:HGNC:20347"
                     /db_xref="MIM:613401"
ORIGIN      
        1 mnrtkgdeee ywnsskfkaf tfddeddels qlkeskravn slrdfvdddd dddlervsws
       61 gepvgsisws iretagnsgs thegreqlks rnsfssyaql pkptstysls sffrgrtrpg
      121 sfqslsdals dtpaksyape lgrpkgeyrd ysndwspsdt vrrlrkgkvc slerfrslqd
      181 klqlleeavs mhdgnvitav liflkrtlsk eilfrelevr qvalrhlihf lkeigdqkll
      241 ldlfrfldrt eelalshyre hlniqdpdkr keflktcvgl pfsaedsahi qdhytllerq
      301 iiieandrhl esagqteifr khprkasiln mplvttlfys cfyhyteaeg tfsspvnlkk
      361 tfkipdkqyv ltalaarakl rawndvdalf ttknwlgytk krapigfhrv veilhknnap
      421 vqilqeyvnl vedvdtklnl atkfkchdvv idtyrdlkdr qqllayrskv dkgsaeeeki
      481 dallsssqir wkn
//
LOCUS       NP_001702                368 aa            linear   PRI 12-MAR-2023
DEFINITION  biglycan preproprotein [Homo sapiens].
ACCESSION   NP_001702
VERSION     NP_001702.1
DBSOURCE    REFSEQ: accession NM_001711.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 368)
  AUTHORS   Yu M, He X, Song X, Gao J, Pan J, Zhou T, Wang Q, Zhu W, Ma H, Zeng
            H, Xu C and Yu C.
  TITLE     Biglycan promotes hepatic fibrosis through activating heat shock
            protein 47
  JOURNAL   Liver Int 43 (2), 500-512 (2023)
   PUBMED   36371672
  REMARK    GeneRIF: Biglycan promotes hepatic fibrosis through activating heat
            shock protein 47.
REFERENCE   2  (residues 1 to 368)
  AUTHORS   Furumido J, Maishi N, Yanagawa-Matsuda A, Kikuchi H, Matsumoto R,
            Osawa T, Abe T, Matsuno Y, Shinohara N, Hida Y and Hida K.
  TITLE     Stroma biglycan expression can be a prognostic factor in prostate
            cancers
  JOURNAL   Int J Urol 30 (2), 147-154 (2023)
   PUBMED   36305810
  REMARK    GeneRIF: Stroma biglycan expression can be a prognostic factor in
            prostate cancers.
REFERENCE   3  (residues 1 to 368)
  AUTHORS   He Z, Lin J, Chen C, Chen Y, Yang S, Cai X, He Y and Liu S.
  TITLE     Identification of BGN and THBS2 as metastasis-specific biomarkers
            and poor survival key regulators in human colon cancer by
            integrated analysis
  JOURNAL   Clin Transl Med 12 (11), e973 (2022)
   PUBMED   36377223
  REMARK    GeneRIF: Identification of BGN and THBS2 as metastasis-specific
            biomarkers and poor survival key regulators in human colon cancer
            by integrated analysis.
REFERENCE   4  (residues 1 to 368)
  AUTHORS   Zhao L, Liang J, Zhong W, Han C, Liu D and Chen X.
  TITLE     Expression and prognostic analysis of BGN in head and neck squamous
            cell carcinoma
  JOURNAL   Gene 827, 146461 (2022)
   PUBMED   35358652
  REMARK    GeneRIF: Expression and prognostic analysis of BGN in head and neck
            squamous cell carcinoma.
REFERENCE   5  (residues 1 to 368)
  AUTHORS   Milewicz,D.M. and Regalado,E.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
REFERENCE   6  (residues 1 to 368)
  AUTHORS   Traupe H, van den Ouweland AM, van Oost BA, Vogel W, Vetter U,
            Warren ST, Rocchi M, Darlison MG and Ropers HH.
  TITLE     Fine mapping of the human biglycan (BGN) gene within the Xq28
            region employing a hybrid cell panel
  JOURNAL   Genomics 13 (2), 481-483 (1992)
   PUBMED   1612609
REFERENCE   7  (residues 1 to 368)
  AUTHORS   Fisher LW, Heegaard AM, Vetter U, Vogel W, Just W, Termine JD and
            Young MF.
  TITLE     Human biglycan gene. Putative promoter, intron-exon junctions, and
            chromosomal localization
  JOURNAL   J Biol Chem 266 (22), 14371-14377 (1991)
   PUBMED   1860845
REFERENCE   8  (residues 1 to 368)
  AUTHORS   Fleischmajer R, Fisher LW, MacDonald ED, Jacobs L Jr, Perlish JS
            and Termine JD.
  TITLE     Decorin interacts with fibrillar collagen of embryonic and adult
            human skin
  JOURNAL   J Struct Biol 106 (1), 82-90 (1991)
   PUBMED   2059554
REFERENCE   9  (residues 1 to 368)
  AUTHORS   McBride OW, Fisher LW and Young MF.
  TITLE     Localization of PGI (biglycan, BGN) and PGII (decorin, DCN, PG-40)
            genes on human chromosomes Xq13-qter and 12q, respectively
  JOURNAL   Genomics 6 (2), 219-225 (1990)
   PUBMED   1968422
REFERENCE   10 (residues 1 to 368)
  AUTHORS   Fisher LW, Termine JD and Young MF.
  TITLE     Deduced protein sequence of bone small proteoglycan I (biglycan)
            shows homology with proteoglycan II (decorin) and several
            nonconnective tissue proteins in a variety of species
  JOURNAL   J Biol Chem 264 (8), 4571-4576 (1989)
   PUBMED   2647739
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC299956.1, BC002416.2,
            AK297966.1, BQ180984.1 and AI538325.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the small leucine-rich
            proteoglycan (SLRP) family of proteins. The encoded preproprotein
            is proteolytically processed to generate the mature protein, which
            plays a role in bone growth, muscle development and regeneration,
            and collagen fibril assembly in multiple tissues. This protein may
            also regulate inflammation and innate immunity. Additionally, the
            encoded protein may contribute to atherosclerosis and aortic valve
            stenosis in human patients. This gene and the related gene decorin
            are thought to be the result of a gene duplication. [provided by
            RefSeq, Nov 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.73748.1,
                                           SRR3476690.369034.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331595.9/ ENSP00000327336.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..368
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..368
                     /product="biglycan preproprotein"
                     /note="small leucine-rich protein 1A; dermatan sulphate
                     proteoglycan I; bone/cartilage proteoglycan-I"
                     /calculated_mol_wt=39788
     sig_peptide     1..16
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1884
     mat_peptide     38..368
                     /product="Biglycan. /id=PRO_0000032692"
                     /note="propagated from UniProtKB/Swiss-Prot (P21810.2)"
                     /calculated_mol_wt=37242
     Site            42
                     /site_type="glycosylation"
                     /note="O-linked (Xyl...) (glycosaminoglycan) serine.
                     /evidence=ECO:0000269|PubMed:2590169; propagated from
                     UniProtKB/Swiss-Prot (P21810.2)"
     Site            47
                     /site_type="glycosylation"
                     /note="O-linked (Xyl...) (glycosaminoglycan) serine.
                     /evidence=ECO:0000269|PubMed:2590169; propagated from
                     UniProtKB/Swiss-Prot (P21810.2)"
     Region          <64..>297
                     /region_name="PRK15370"
                     /note="type III secretion system effector E3 ubiquitin
                     transferase SlrP"
                     /db_xref="CDD:185268"
     Region          71..91
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          82..102
                     /region_name="LRR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P21810.2)"
     Region          92..115
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          103..126
                     /region_name="LRR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P21810.2)"
     Region          116..139
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          127..150
                     /region_name="LRR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (P21810.2)"
     Region          140..160
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          151..171
                     /region_name="LRR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (P21810.2)"
     Region          161..184
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          172..195
                     /region_name="LRR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (P21810.2)"
     Site            180
                     /site_type="glycosylation"
                     /note="O-linked (Xyl...) (glycosaminoglycan) serine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P21810.2)"
     Region          185..208
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          196..220
                     /region_name="LRR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (P21810.2)"
     Site            198
                     /site_type="glycosylation"
                     /note="O-linked (Xyl...) (glycosaminoglycan) serine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P21810.2)"
     Region          210..231
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          221..241
                     /region_name="LRR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (P21810.2)"
     Region          233..254
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          242..265
                     /region_name="LRR 8"
                     /note="propagated from UniProtKB/Swiss-Prot (P21810.2)"
     Region          255..278
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          266..289
                     /region_name="LRR 9"
                     /note="propagated from UniProtKB/Swiss-Prot (P21810.2)"
     Site            270
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P21810.2)"
     Region          277..>323
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          290..312
                     /region_name="LRR 10"
                     /note="propagated from UniProtKB/Swiss-Prot (P21810.2)"
     Region          302..315
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Site            311
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P21810.2)"
     Region          313..342
                     /region_name="LRR 11"
                     /note="propagated from UniProtKB/Swiss-Prot (P21810.2)"
     Region          343..368
                     /region_name="LRR 12"
                     /note="propagated from UniProtKB/Swiss-Prot (P21810.2)"
     CDS             1..368
                     /gene="BGN"
                     /gene_synonym="DSPG1; MRLS; PG-S1; PGI; SEMDX; SLRR1A"
                     /coded_by="NM_001711.6:146..1252"
                     /db_xref="CCDS:CCDS14721.1"
                     /db_xref="GeneID:633"
                     /db_xref="HGNC:HGNC:1044"
                     /db_xref="MIM:301870"
ORIGIN      
        1 mwplwrlvsl lalsqalpfe qrgfwdftld dgpfmmndee asgadtsgvl dpdsvtptys
       61 amcpfgchch lrvvqcsdlg lksvpkeisp dttlldlqnn diselrkddf kglqhlyalv
      121 lvnnkiskih ekafsplrkl qklyisknhl veippnlpss lvelrihdnr irkvpkgvfs
      181 glrnmnciem ggnplensgf epgafdglkl nylriseakl tgipkdlpet lnelhldhnk
      241 iqaieledll rysklyrlgl ghnqirmien gslsflptlr elhldnnkla rvpsglpdlk
      301 llqvvylhsn nitkvgvndf cpmgfgvkra yyngislfnn pvpywevqpa tfrcvtdrla
      361 iqfgnykk
//
LOCUS       NP_056022                398 aa            linear   PRI 12-MAR-2023
DEFINITION  OTU domain-containing protein 3 [Homo sapiens].
ACCESSION   NP_056022 XP_375697 XP_944141
VERSION     NP_056022.1
DBSOURCE    REFSEQ: accession NM_015207.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 398)
  AUTHORS   Liu JP, Yang AP, Lei G, Yu M, Peng Y and Le AP.
  TITLE     Prevalence and clinical characteristics of T2DM patients with OTUD3
            gene rs78466831 SNP at a single academic center in China
  JOURNAL   Front Endocrinol (Lausanne) 13, 1059641 (2022)
   PUBMED   36531510
  REMARK    GeneRIF: Prevalence and clinical characteristics of T2DM patients
            with OTUD3 gene rs78466831 SNP at a single academic center in
            China.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 398)
  AUTHORS   Zhao L, Liu X, Ren C, Zhang H and Gao L.
  TITLE     Silencing of LncRNA SNHG6 protects trophoblast cells through
            regulating miR-101-3p/OTUD3 axis in unexplained recurrent
            spontaneous abortion
  JOURNAL   J Mol Histol 53 (6), 871-882 (2022)
   PUBMED   36173586
  REMARK    GeneRIF: Silencing of LncRNA SNHG6 protects trophoblast cells
            through regulating miR-101-3p/OTUD3 axis in unexplained recurrent
            spontaneous abortion.
REFERENCE   3  (residues 1 to 398)
  AUTHORS   Zhou N, Qi H, Liu J, Zhang G, Liu J, Liu N, Zhu M, Zhao X, Song C,
            Zhou Z, Gong J, Li R, Bai X, Jin Y, Song Y and Yin Y.
  TITLE     Deubiquitinase OTUD3 regulates metabolism homeostasis in response
            to nutritional stresses
  JOURNAL   Cell Metab 34 (7), 1023-1041 (2022)
   PUBMED   35675826
REFERENCE   4  (residues 1 to 398)
  AUTHORS   Wang M, Li Y, Xiao Y, Yang M, Chen J, Jian Y, Chen X, Shi D, Chen
            X, Ouyang Y, Kong L, Huang X, Bai J, Lin C and Song L.
  TITLE     Nicotine-mediated OTUD3 downregulation inhibits VEGF-C mRNA decay
            to promote lymphatic metastasis of human esophageal cancer
  JOURNAL   Nat Commun 12 (1), 7006 (2021)
   PUBMED   34853315
  REMARK    GeneRIF: Nicotine-mediated OTUD3 downregulation inhibits VEGF-C
            mRNA decay to promote lymphatic metastasis of human esophageal
            cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 398)
  AUTHORS   Xie P, Chen Y, Zhang H, Zhou G, Chao Q, Wang J, Liu Y, Fang J, Xie
            J, Zhen J, Wang Z, Hao L and Huang D.
  TITLE     The deubiquitinase OTUD3 stabilizes ACTN4 to drive growth and
            metastasis of hepatocellular carcinoma
  JOURNAL   Aging (Albany NY) 13 (15), 19317-19338 (2021)
   PUBMED   34380780
  REMARK    GeneRIF: The deubiquitinase OTUD3 stabilizes ACTN4 to drive growth
            and metastasis of hepatocellular carcinoma.
REFERENCE   6  (residues 1 to 398)
  AUTHORS   Yang SK, Hong M, Zhao W, Jung Y, Tayebi N, Ye BD, Kim KJ, Park SH,
            Lee I, Shin HD, Cheong HS, Kim LH, Kim HJ, Jung SA, Kang D, Youn
            HS, Liu J and Song K.
  TITLE     Genome-wide association study of ulcerative colitis in Koreans
            suggests extensive overlapping of genetic susceptibility with
            Caucasians
  JOURNAL   Inflamm Bowel Dis 19 (5), 954-966 (2013)
   PUBMED   23511034
  REMARK    GeneRIF: Single-nucleotide polymorphism in OTUD3 gene is associated
            with ulcerative colitis.
REFERENCE   7  (residues 1 to 398)
  AUTHORS   McGovern DP, Gardet A, Torkvist L, Goyette P, Essers J, Taylor KD,
            Neale BM, Ong RT, Lagace C, Li C, Green T, Stevens CR, Beauchamp C,
            Fleshner PR, Carlson M, D'Amato M, Halfvarson J, Hibberd ML, Lordal
            M, Padyukov L, Andriulli A, Colombo E, Latiano A, Palmieri O,
            Bernard EJ, Deslandres C, Hommes DW, de Jong DJ, Stokkers PC,
            Weersma RK, Sharma Y, Silverberg MS, Cho JH, Wu J, Roeder K, Brant
            SR, Schumm LP, Duerr RH, Dubinsky MC, Glazer NL, Haritunians T,
            Ippoliti A, Melmed GY, Siscovick DS, Vasiliauskas EA, Targan SR,
            Annese V, Wijmenga C, Pettersson S, Rotter JI, Xavier RJ, Daly MJ,
            Rioux JD and Seielstad M.
  CONSRTM   NIDDK IBD Genetics Consortium
  TITLE     Genome-wide association identifies multiple ulcerative colitis
            susceptibility loci
  JOURNAL   Nat Genet 42 (4), 332-337 (2010)
   PUBMED   20228799
  REMARK    Erratum:[Nat Genet. 2011 Apr;43(4):388]
REFERENCE   8  (residues 1 to 398)
  AUTHORS   Franke A, Balschun T, Sina C, Ellinghaus D, Hasler R, Mayr G,
            Albrecht M, Wittig M, Buchert E, Nikolaus S, Gieger C, Wichmann HE,
            Sventoraityte J, Kupcinskas L, Onnie CM, Gazouli M, Anagnou NP,
            Strachan D, McArdle WL, Mathew CG, Rutgeerts P, Vermeire S, Vatn
            MH, Krawczak M, Rosenstiel P, Karlsen TH and Schreiber S.
  CONSRTM   IBSEN study group
  TITLE     Genome-wide association study for ulcerative colitis identifies
            risk loci at 7q22 and 22q13 (IL17REL)
  JOURNAL   Nat Genet 42 (4), 292-294 (2010)
   PUBMED   20228798
REFERENCE   9  (residues 1 to 398)
  AUTHORS   Barrett JC, Lee JC, Lees CW, Prescott NJ, Anderson CA, Phillips A,
            Wesley E, Parnell K, Zhang H, Drummond H, Nimmo ER, Massey D,
            Blaszczyk K, Elliott T, Cotterill L, Dallal H, Lobo AJ, Mowat C,
            Sanderson JD, Jewell DP, Newman WG, Edwards C, Ahmad T, Mansfield
            JC, Satsangi J, Parkes M, Mathew CG, Donnelly P, Peltonen L,
            Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Craddock N,
            Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew CG,
            McCarthy MI, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Samani N,
            Trembath RC, Viswanathan AC, Wood N, Spencer CC, Barrett JC,
            Bellenguez C, Davison D, Freeman C, Strange A, Donnelly P, Langford
            C, Hunt SE, Edkins S, Gwilliam R, Blackburn H, Bumpstead SJ, Dronov
            S, Gillman M, Gray E, Hammond N, Jayakumar A, McCann OT, Liddle J,
            Perez ML, Potter SC, Ravindrarajah R, Ricketts M, Waller M, Weston
            P, Widaa S, Whittaker P, Deloukas P, Peltonen L, Mathew CG,
            Blackwell JM, Brown MA, Corvin A, McCarthy MI, Spencer CC, Attwood
            AP, Stephens J, Sambrook J, Ouwehand WH, McArdle WL, Ring SM and
            Strachan DP.
  CONSRTM   UK IBD Genetics Consortium; Wellcome Trust Case Control Consortium
            2
  TITLE     Genome-wide association study of ulcerative colitis identifies
            three new susceptibility loci, including the HNF4A region
  JOURNAL   Nat Genet 41 (12), 1330-1334 (2009)
   PUBMED   19915572
REFERENCE   10 (residues 1 to 398)
  AUTHORS   Silverberg MS, Cho JH, Rioux JD, McGovern DP, Wu J, Annese V,
            Achkar JP, Goyette P, Scott R, Xu W, Barmada MM, Klei L, Daly MJ,
            Abraham C, Bayless TM, Bossa F, Griffiths AM, Ippoliti AF, Lahaie
            RG, Latiano A, Pare P, Proctor DD, Regueiro MD, Steinhart AH,
            Targan SR, Schumm LP, Kistner EO, Lee AT, Gregersen PK, Rotter JI,
            Brant SR, Taylor KD, Roeder K and Duerr RH.
  TITLE     Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by
            genome-wide association study
  JOURNAL   Nat Genet 41 (2), 216-220 (2009)
   PUBMED   19122664
  REMARK    Erratum:[Nat Genet. 2009 Jun;41(6):762]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CV573628.1, AB007928.3 and AA829387.1.
            On or before Jun 21, 2007 this sequence version replaced
            XP_375697.3, XP_944141.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB007928.3, SRR1803615.58407.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375120.4/ ENSP00000364261.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..398
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     Protein         1..398
                     /product="OTU domain-containing protein 3"
                     /EC_number="3.4.19.12"
                     /note="OTU domain containing 3"
                     /calculated_mol_wt=44993
     Region          1..50
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T2D3.1)"
     Region          53..196
                     /region_name="OTU_OTUD3"
                     /note="OTU (ovarian tumor) domain of OTU domain-containing
                     protein 3 and similar proteins; cd22770"
                     /db_xref="CDD:438607"
     Site            66
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:35675826; propagated from
                     UniProtKB/Swiss-Prot (Q5T2D3.1)"
     Region          70..76
                     /region_name="Cys-loop"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T2D3.1)"
     Site            order(76,123,126,133..136,160,162,177,181..183)
                     /site_type="other"
                     /note="putative polypeptide substrate binding site
                     [polypeptide binding]"
                     /db_xref="CDD:438607"
     Site            105
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:35675826; propagated from
                     UniProtKB/Swiss-Prot (Q5T2D3.1)"
     Site            122
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:35675826; propagated from
                     UniProtKB/Swiss-Prot (Q5T2D3.1)"
     Region          127..137
                     /region_name="Variable-loop"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T2D3.1)"
     Site            129
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:35675826; propagated from
                     UniProtKB/Swiss-Prot (Q5T2D3.1)"
     Region          177..182
                     /region_name="His-loop"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T2D3.1)"
     Site            220
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:35675826; propagated from
                     UniProtKB/Swiss-Prot (Q5T2D3.1)"
     Site            224
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T2D3.1)"
     Site            292
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:35675826; propagated from
                     UniProtKB/Swiss-Prot (Q5T2D3.1)"
     Region          305..383
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T2D3.1)"
     Site            322
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:35675826; propagated from
                     UniProtKB/Swiss-Prot (Q5T2D3.1)"
     CDS             1..398
                     /gene="OTUD3"
                     /gene_synonym="DUBA4"
                     /coded_by="NM_015207.2:120..1316"
                     /db_xref="CCDS:CCDS41279.1"
                     /db_xref="GeneID:23252"
                     /db_xref="HGNC:HGNC:29038"
                     /db_xref="MIM:611758"
ORIGIN      
        1 msrkqaaksr pgsgsrkaea erkrderaar ralakerrnr pesgggggce eefvsfanql
       61 qalglklrev pgdgnclfra lgdqleghsr nhlkhrqetv dymikqredf epfveddipf
      121 ekhvaslakp gtfagndaiv afarnhqlnv vihqlnaplw qirgtekssv relhiayryg
      181 ehydsvrrin dnseapahlq tdfqmlhqde snkrekiktk gmdseddlrd evedavqkvc
      241 natgcsdfnl ivqnleaeny niesaiiavl rmnqgkrnna eenlepsgrv lkqcgplwee
      301 ggsgarifgn qglnegrten nkaqaspsee nkanknqlak vtnkqrreqq wmekkkrqee
      361 rhrhkalesr gshrdnnrse aeantqvtlv ktfaalni
//
LOCUS       NP_000996                243 aa            linear   PRI 14-MAR-2023
DEFINITION  40S ribosomal protein S3 isoform 1 [Homo sapiens].
ACCESSION   NP_000996
VERSION     NP_000996.2
DBSOURCE    REFSEQ: accession NM_001005.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 243)
  AUTHORS   Ochkasova A, Arbuzov G, Kabilov M, Tupikin A, Karpova G and Graifer
            D.
  TITLE     AP lyase activity of the human ribosomal protein uS3: The DNA
            cleavage sequence specificity and the location of the enzyme active
            center
  JOURNAL   Biochim Biophys Acta Proteins Proteom 1871 (2), 140880 (2023)
   PUBMED   36396097
  REMARK    GeneRIF: AP lyase activity of the human ribosomal protein uS3: The
            DNA cleavage sequence specificity and the location of the enzyme
            active center.
REFERENCE   2  (residues 1 to 243)
  AUTHORS   Wang T, Jin C, Yang P, Chen Z, Ji J, Sun Q, Yang S, Feng Y, Tang J
            and Sun Y.
  TITLE     UBE2J1 inhibits colorectal cancer progression by promoting
            ubiquitination and degradation of RPS3
  JOURNAL   Oncogene 42 (9), 651-664 (2023)
   PUBMED   36567344
  REMARK    GeneRIF: UBE2J1 inhibits colorectal cancer progression by promoting
            ubiquitination and degradation of RPS3.
REFERENCE   3  (residues 1 to 243)
  AUTHORS   Shi J, Zhang T, Yang ZG, Chen FL and Zhang WS.
  TITLE     RPS3 predicts poor overall survival in HBV-related hepatocellular
            carcinoma patients: a data-mining with LASSO-regression algorithm
  JOURNAL   Eur Rev Med Pharmacol Sci 26 (18), 6742-6753 (2022)
   PUBMED   36196722
  REMARK    GeneRIF: RPS3 predicts poor overall survival in HBV-related
            hepatocellular carcinoma patients: a data-mining with
            LASSO-regression algorithm.
REFERENCE   4  (residues 1 to 243)
  AUTHORS   Jirapongwattana N, Thongchot S, Chiraphapphaiboon W, Chieochansin
            T, Sa-Nguanraksa D, Warnnissorn M, Thuwajit P, Yenchitsomanus PT
            and Thuwajit C.
  TITLE     Mesothelin-specific T cell cytotoxicity against triple negative
            breast cancer is enhanced by 40s ribosomal protein subunit
            3-treated self-differentiated dendritic cells
  JOURNAL   Oncol Rep 48 (1) (2022)
   PUBMED   35616135
  REMARK    GeneRIF: Mesothelinspecific T cell cytotoxicity against triple
            negative breast cancer is enhanced by 40s ribosomal protein subunit
            3treated selfdifferentiated dendritic cells.
REFERENCE   5  (residues 1 to 243)
  AUTHORS   Liang ZX, Liu HS, Xiong L, Yang X, Wang FW, Zeng ZW, He XW, Wu XR
            and Lan P.
  TITLE     A novel NF-kappaB regulator encoded by circPLCE1 inhibits
            colorectal carcinoma progression by promoting RPS3
            ubiquitin-dependent degradation
  JOURNAL   Mol Cancer 20 (1), 103 (2021)
   PUBMED   34412652
  REMARK    GeneRIF: A novel NF-kappaB regulator encoded by circPLCE1 inhibits
            colorectal carcinoma progression by promoting RPS3
            ubiquitin-dependent degradation.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 243)
  AUTHORS   Kim J, Chubatsu LS, Admon A, Stahl J, Fellous R and Linn S.
  TITLE     Implication of mammalian ribosomal protein S3 in the processing of
            DNA damage
  JOURNAL   J Biol Chem 270 (23), 13620-13629 (1995)
   PUBMED   7775413
REFERENCE   7  (residues 1 to 243)
  AUTHORS   Polakiewicz RD, Munroe DJ, Sait SN, Tycowski KT, Nowak NJ, Shows
            TB, Housman DE and Page DC.
  TITLE     Mapping of ribosomal protein S3 and internally nested snoRNA U15A
            gene to human chromosome 11q13.3-q13.5
  JOURNAL   Genomics 25 (2), 577-580 (1995)
   PUBMED   7789996
REFERENCE   8  (residues 1 to 243)
  AUTHORS   Pogue-Geile K, Geiser JR, Shu M, Miller C, Wool IG, Meisler AI and
            Pipas JM.
  TITLE     Ribosomal protein genes are overexpressed in colorectal cancer:
            isolation of a cDNA clone encoding the human S3 ribosomal protein
  JOURNAL   Mol Cell Biol 11 (8), 3842-3849 (1991)
   PUBMED   1712897
REFERENCE   9  (residues 1 to 243)
  AUTHORS   Bommer UA, Lutsch G, Stahl J and Bielka H.
  TITLE     Eukaryotic initiation factors eIF-2 and eIF-3: interactions,
            structure and localization in ribosomal initiation complexes
  JOURNAL   Biochimie 73 (7-8), 1007-1019 (1991)
   PUBMED   1742346
  REMARK    Review article
REFERENCE   10 (residues 1 to 243)
  AUTHORS   Zhang XT, Tan YM and Tan YH.
  TITLE     Isolation of a cDNA encoding human 40S ribosomal protein s3
  JOURNAL   Nucleic Acids Res 18 (22), 6689 (1990)
   PUBMED   2129557
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC034149.1, AP000744.4 and CB241053.1.
            On Sep 21, 2001 this sequence version replaced NP_000996.1.
            
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit, where it forms part
            of the domain where translation is initiated. The protein belongs
            to the S3P family of ribosomal proteins. Studies of the mouse and
            rat proteins have demonstrated that the protein has an
            extraribosomal role as an endonuclease involved in the repair of
            UV-induced DNA damage. The protein appears to be located in both
            the cytoplasm and nucleus but not in the nucleolus. Higher levels
            of expression of this gene in colon adenocarcinomas and adenomatous
            polyps compared to adjacent normal colonic mucosa have been
            observed. This gene is co-transcribed with the small nucleolar RNA
            genes U15A and U15B, which are located in its first and fifth
            introns, respectively. As is typical for genes encoding ribosomal
            proteins, there are multiple processed pseudogenes of this gene
            dispersed through the genome. Multiple alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (1) and variant 2 both encode the
            same protein (isoform 1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC034149.1, SRR1660803.48040.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000531188.6/ ENSP00000434643.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..243
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..243
                     /product="40S ribosomal protein S3 isoform 1"
                     /EC_number="4.2.99.18"
                     /note="IMR-90 ribosomal protein S3; 40S ribosomal protein
                     S3; small ribosomal subunit protein uS3"
                     /calculated_mol_wt=26557
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.10,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22814378,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Region          4..216
                     /region_name="PTZ00084"
                     /note="40S ribosomal protein S3; Provisional"
                     /db_xref="CDD:240260"
     Site            6
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKC/PRKCD.
                     /evidence=ECO:0000269|PubMed:19059439; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            35
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            42
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by MAPK.
                     /evidence=ECO:0000269|PubMed:15950189; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            62
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            64
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:19460357; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            65
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:19460357; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            67
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:19460357; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            70
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PKB.
                     /evidence=ECO:0000269|PubMed:20605787; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            104
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            209
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by IKKB.
                     /evidence=ECO:0000269|PubMed:21399639; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Region          214..243
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P23396.2)"
     Site            220
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            221
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CDK1 and PKC/PRKCD.
                     /evidence=ECO:0000269|PubMed:19059439,
                     ECO:0000269|PubMed:21871177, ECO:0000269|Ref.12,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            224
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16807684; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     Site            242
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P23396.2)"
     CDS             1..243
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /coded_by="NM_001005.5:31..762"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS8236.1"
                     /db_xref="GeneID:6188"
                     /db_xref="HGNC:HGNC:10420"
                     /db_xref="MIM:600454"
ORIGIN      
        1 mavqiskkrk fvadgifkae lnefltrela edgysgvevr vtptrteiii latrtqnvlg
       61 ekgrrirelt avvqkrfgfp egsvelyaek vatrglcaia qaeslrykll gglavrracy
      121 gvlrfimesg akgcevvvsg klrgqraksm kfvdglmihs gdpvnyyvdt avrhvllrqg
      181 vlgikvkiml pwdptgkigp kkplpdhvsi vepkdeilpt tpiseqkggk peppampqpv
      241 pta
//
LOCUS       NP_001293019             991 aa            linear   PRI 15-MAR-2023
DEFINITION  evC complex member EVC isoform 2 [Homo sapiens].
ACCESSION   NP_001293019
VERSION     NP_001293019.1
DBSOURCE    REFSEQ: accession NM_001306090.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 991)
  AUTHORS   Zaka A, Shahzad S, Rao HZ, Kanwal S, Gul A and Basit S.
  TITLE     An intrafamilial phenotypic variability in Ellis-Van Creveld
            syndrome due to a novel 27 bps deletion mutation
  JOURNAL   Am J Med Genet A 185 (10), 2888-2894 (2021)
   PUBMED   34037314
  REMARK    GeneRIF: An intrafamilial phenotypic variability in Ellis-Van
            Creveld syndrome due to a novel 27 bps deletion mutation.
REFERENCE   2  (residues 1 to 991)
  AUTHORS   Liu F, Liu X, Xu Z, Yuan P, Zhou Q, Jin J, Yan X, Xu Z, Cao Q, Yu
            J, Cheng Y, Wan R and Hong K.
  TITLE     Molecular mechanisms of Ellis-van Creveld gene variations in
            ventricular septal defect
  JOURNAL   Mol Med Rep 17 (1), 1527-1536 (2018)
   PUBMED   29257216
  REMARK    GeneRIF: The molecular mechanism underlying the development of
            ventricular septal defect induced by the EVC c.343C>G mutation may
            be due to a reduction in the anti-apoptotic and proliferative
            abilities of cardiomyocytes via downregulation of Hh pathway
            activity.
REFERENCE   3  (residues 1 to 991)
  AUTHORS   Ibarra-Ramirez M, Campos-Acevedo LD, Lugo-Trampe J, Martinez-Garza
            LE, Martinez-Glez V, Valencia-Benitez M, Lapunzina P and Ruiz-Perez
            V.
  TITLE     Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation
            in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld
            Syndrome
  JOURNAL   Am J Case Rep 18, 1325-1329 (2017)
   PUBMED   29229899
  REMARK    GeneRIF: Here, we report on two Mexican families with patients
            diagnosed with Ellis-van Creveld syndrome. In all cases, molecular
            analysis by Sanger sequencing identified the same homozygous
            mutation in exon 12 of EVC, c.1678G>T, which leads to a premature
            stop codon.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 991)
  AUTHORS   Umair M, Seidel H, Ahmed I, Ullah A, Haack TB, Alhaddad B, Jan A,
            Rafique A, Strom TM, Ahmad F, Meitinger T and Ahmad W.
  TITLE     Ellis-van Creveld syndrome and profound deafness resulted by
            sequence variants in the EVC/EVC2 and TMC1 genes
  JOURNAL   J Genet 96 (6), 1005-1014 (2017)
   PUBMED   29321360
  REMARK    GeneRIF: the whole exome sequencing (WES) in this family revealed
            two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and
            TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound
            heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene.
REFERENCE   5  (residues 1 to 991)
  AUTHORS   Nguyen TQ, Saitoh M, Trinh HT, Doan NM, Mizuno Y, Seki M, Sato Y,
            Ogawa S and Mizuguchi M.
  TITLE     Truncation and microdeletion of EVC/EVC2 with missense mutation of
            EFCAB7 in Ellis-van Creveld syndrome
  JOURNAL   Congenit Anom (Kyoto) 56 (5), 209-216 (2016)
   PUBMED   26748586
  REMARK    GeneRIF: we detected two novel nonsense mutations and a partial
            deletion of EVC/EVC2 in two Vietnamese families with EvC. Moreover,
            we found in one family a missense mutation of EFCAB7, a possible
            modifier gene in EvC and its related disorders.
REFERENCE   6  (residues 1 to 991)
  AUTHORS   Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina
            P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ and Goodship
            JA.
  TITLE     Mutations in two nonhomologous genes in a head-to-head
            configuration cause Ellis-van Creveld syndrome
  JOURNAL   Am J Hum Genet 72 (3), 728-732 (2003)
   PUBMED   12571802
REFERENCE   7  (residues 1 to 991)
  AUTHORS   .
  TITLE     Correction to 'NPHS2, encoding the glomerular protein podocin, is
            mutated in autosomal recessive steroid-resistant nephrotic
            syndrome'
  JOURNAL   Nat Genet 25 (1), 125 (2000)
   PUBMED   10802674
REFERENCE   8  (residues 1 to 991)
  AUTHORS   Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King
            L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola
            B, Wright M, Meitinger T, Polymeropoulos MH and Goodship J.
  TITLE     Mutations in a new gene in Ellis-van Creveld syndrome and Weyers
            acrodental dysostosis
  JOURNAL   Nat Genet 24 (3), 283-286 (2000)
   PUBMED   10700184
  REMARK    Erratum:[Nat Genet 2000 May;25(1):125]
REFERENCE   9  (residues 1 to 991)
  AUTHORS   Polymeropoulos MH, Ide SE, Wright M, Goodship J, Weissenbach J,
            Pyeritz RE, Da Silva EO, Ortiz De Luna RI and Francomano CA.
  TITLE     The gene for the Ellis-van Creveld syndrome is located on
            chromosome 4p16
  JOURNAL   Genomics 35 (1), 1-5 (1996)
   PUBMED   8661097
REFERENCE   10 (residues 1 to 991)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF216185.1, AF239742.1 and
            AC105915.5.
            
            Summary: This gene encodes a protein containing a leucine zipper
            and a transmembrane domain. This gene has been implicated in both
            Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region compared to variant 1. It
            encodes isoform 2, which is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF239742.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..991
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.2"
     Protein         1..991
                     /product="evC complex member EVC isoform 2"
                     /note="ellis-van Creveld syndrome protein; Ellis van
                     Creveld syndrome; Ellis van Creveld protein; evC complex
                     member EVC"
                     /calculated_mol_wt=111773
     Site            26..48
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P57679.1)"
     Region          66..105
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P57679.1)"
     Region          151..181
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P57679.1)"
     Region          825..854
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P57679.1)"
     CDS             1..991
                     /gene="EVC"
                     /gene_synonym="DWF-1; EVC1; EVCL"
                     /coded_by="NM_001306090.2:181..3156"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:2121"
                     /db_xref="HGNC:HGNC:3497"
                     /db_xref="MIM:604831"
ORIGIN      
        1 marggaacks darlllgrda lrpapallap avllgaalgl glglwlgcra grqrtrhqkd
       61 dtqnllknle snaqtpsetg spsrrrkrev qmskdkeavd eceppsnsni tafalkakvi
      121 ypinqkfrpl adgssnpslh enlkqavlph qpveaspsss lgslsqgekd dcsssssvhs
      181 atsddrflsr tflrvnafpe vlacesvdvd lciyslhlkd llhldtalrq ekhmmfiqif
      241 kmclldllpk kksddelyqk ilskqekdle elekglqvkl sntemsgagd seyitladve
      301 kkereyseql idnmeafwkq maniqhflvd qfkcssskar qlmmtlterm iaaegllcds
      361 qelqaldale rtmgrahmak vieflklqvq eetrcrlaai shglellage gklsgrqkee
      421 lltqqhkafw qeaerfsref vqrgkdlvta slahqvegta kltlaqeeeq rsflaeaqpt
      481 adpekfleaf hevlerqrlm qcdleeeenv rateavvalc qelyfstvdt fqkfvdalfl
      541 qtlpgmtglp peecdylrqe vqenaawqlg ksnrfrrqqw klfqelleqd qqvwmeecal
      601 ssvlqthlre dhegtirgvl grlggltees trcvlqghdl llrsalrrla lrgnalatlt
      661 qmrlsgkkhl lqelreqral eqgssqclde hqwqllrale arvleeasrl eeeaqqtrlq
      721 lqqrllaeaq evgqllqqhm ecaigqallv harnaatksr akdrddfkrt lmeaavesvy
      781 vtsagvsrlv qayyqqigri medheerklq hlktlqgerm enyklrkkqe lsnpssgsrt
      841 aggahetsqa vhqrmlsqqk rflaqfpvhq qmrlhaqqqq agvmdlleaq letqlqeaeq
      901 nfiselaala rvplaeskll pakrgllekp lrtkrkkplp qergdlgvpn nedlasgdqt
      961 sgslskrlsq qeseagdsgn skkmlkrrsn l
//
LOCUS       NP_001290452             598 aa            linear   PRI 15-MAR-2023
DEFINITION  TOX high mobility group box family member 4 isoform 2 [Homo
            sapiens].
ACCESSION   NP_001290452
VERSION     NP_001290452.1
DBSOURCE    REFSEQ: accession NM_001303523.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 598)
  AUTHORS   Liu Z, Wu A, Wu Z, Wang T, Pan Y, Li B, Zhang X and Yu M.
  TITLE     TOX4 facilitates promoter-proximal pausing and C-terminal domain
            dephosphorylation of RNA polymerase II in human cells
  JOURNAL   Commun Biol 5 (1), 300 (2022)
   PUBMED   35365735
  REMARK    GeneRIF: TOX4 facilitates promoter-proximal pausing and C-terminal
            domain dephosphorylation of RNA polymerase II in human cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 598)
  AUTHORS   Wang L, Yu J, Zhou Q, Wang X, Mukhanova M, Du W, Sun L, Pajvani UB
            and Accili D.
  TITLE     TOX4, an insulin receptor-independent regulator of hepatic glucose
            production, is activated in diabetic liver
  JOURNAL   Cell Metab 34 (1), 158-170 (2022)
   PUBMED   34914893
  REMARK    GeneRIF: TOX4, an insulin receptor-independent regulator of hepatic
            glucose production, is activated in diabetic liver.
REFERENCE   3  (residues 1 to 598)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 598)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 598)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker
            SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan
            G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (residues 1 to 598)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (residues 1 to 598)
  AUTHORS   Lee SJ, Lee JK, Maeng YS, Kim YM and Kwon YG.
  TITLE     Langerhans cell protein 1 (LCP1) binds to PNUTS in the nucleus:
            implications for this complex in transcriptional regulation
  JOURNAL   Exp Mol Med 41 (3), 189-200 (2009)
   PUBMED   19293638
  REMARK    GeneRIF: the coordinated spatial and temporal regulation of LCP1
            and PNUTS may be a novel mechanism to control the expression of
            genes that are critical for certain physiological and pathological
            processes.
REFERENCE   8  (residues 1 to 598)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   9  (residues 1 to 598)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   10 (residues 1 to 598)
  AUTHORS   Lehner B and Sanderson CM.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA334895.1, AK298555.1, BC020292.1, AL161747.5 and N63399.1.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' end compared to variant 1. The resulting isoform (2)
            has the same N- and C-termini but is shorter compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK298555.1, SRR1803611.265881.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..598
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     Protein         1..598
                     /product="TOX high mobility group box family member 4
                     isoform 2"
                     /note="migration-inducing protein 7; epidermal Langerhans
                     cell protein LCP1"
                     /calculated_mol_wt=63690
     Region          117..>283
                     /region_name="NHP6B"
                     /note="Chromatin-associated proteins containing the HMG
                     domain [Chromatin structure and dynamics]; COG5648"
                     /db_xref="CDD:227935"
     Region          201..270
                     /region_name="HMG-box_TOX-like"
                     /note="high mobility group (HMG)-box found in the TOX high
                     mobility group box family; cd21995"
                     /db_xref="CDD:438811"
     Site            order(201..202,204..208,211..212,219,231..232,235,
                     238..239,246,250,253,257,260)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438811"
     CDS             1..598
                     /gene="TOX4"
                     /gene_synonym="C14orf92; KIAA0737; LCP1; MIG7"
                     /coded_by="NM_001303523.2:85..1881"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:9878"
                     /db_xref="HGNC:HGNC:20161"
                     /db_xref="MIM:614032"
ORIGIN      
        1 metfhtpslg deefeippis ldsdpslavs dvvghfddla dpsssqdgsf saqygvqtld
       61 mpvgmthglm eqgggllsgg ltmdldhsig tqysanppvt idvpmtdmts glmghsqltt
      121 idqselssql glslgggtil ppaqspedrl sttpsptssl hedgvedfrr qlpsqktvvv
      181 eagkkqkapk krkkkdpnep qkpvsayalf frdtqaaikg qnpnatfgev skivasmwds
      241 lgeeqkqvyk rkteaakkey lkalaaykdn qecqatvetv eldpappsqt pspppmatvd
      301 paspapasie ppalspsivv nstlssyvan qassgaggqp nitkliitkq mlpssitmsq
      361 ggmvtvipat vvtsrglqlg qtstatiqps qqaqivtrsv lqaaaaaaaa asmqlppprl
      421 qppplqqmpq pptqqqvtil qqppplqamq qpppqkvrin lqqqppplqi ksvplptlkm
      481 qttlvpptve ssperpmnns peahtveaps peticemitd vvpevespsq mdvelvsgsp
      541 valspqprcv rsgcenppiv skdwdneycs necvvkhcrd vflawvasrn sntvvfvk
//
LOCUS       XP_016855503             864 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/arginine repetitive matrix protein 1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_016855503
VERSION     XP_016855503.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017000014.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..864
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..864
                     /product="serine/arginine repetitive matrix protein 1
                     isoform X4"
                     /calculated_mol_wt=97543
     Region          7..76
                     /region_name="PWI"
                     /note="PWI domain; pfam01480"
                     /db_xref="CDD:426282"
     Region          <566..>700
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     CDS             1..864
                     /gene="SRRM1"
                     /gene_synonym="160-KD; POP101; SRM160"
                     /coded_by="XM_017000014.2:271..2865"
                     /db_xref="GeneID:10250"
                     /db_xref="HGNC:HGNC:16638"
                     /db_xref="MIM:605975"
ORIGIN      
        1 mskvnlevik pwitkrvtei lgfeddvvie fifnqlevkn pdskmmqinl tgflngknar
       61 efmgelwpll lsaqeniagi psaflelkke eikqrqieqe klasmkkqde dkdkrdkeek
      121 essrekrers rsprrrksrs psprrrsspv rrerkrshsr sprhrtksrs pspapekkek
      181 tpelpepsvk vkepsvqeat stsdilkvpk pepipepkep speknskkek ekektrprsr
      241 srsksrsrtr srspshtrpr rrhrsrsrsy sprrrpsprr rpsprrrtpp rrmpppprhr
      301 rsrspvrrrr rssaslsgss ssssssrsrs ppkkppkrts spprktrrls psaspprrrh
      361 rpsppatppp ktrhsptpqq snrtrksrvs vspgrtsgkv tkhkgtekre spspapkprk
      421 velsesedkg gkmaaadsvq qrrqyrrqnq qsssdsgsss ssederpkrs hvkngevgrr
      481 rrhspsrsas psprkrqket sprgrrrrsp sppptrrrrs pspappprrr rtptppprrr
      541 tpsppprrrs psprrysppi qrryspsppp krrtaspppp pkrraspspp pkrrvshspp
      601 pkqrsspvtk rrspslsskh rkgsspsrst rearspqpnk rhspsprpra pqtssspppv
      661 rrgassspqr rqspspstrp irrvsrtpep kkikkaasps pqsvrrvsss rsvsgspepa
      721 akkppappsp vqsqspstnw spavpvkkak sptpspsppr nsdqegggkk kkkkkdkkhk
      781 kdkkhkkhkk hkkekavaaa aaaavtpaai aaatttlaqe epvaapepkk eteseaednl
      841 ddlekhlrek alrsmrkaqv spqs
//
LOCUS       XP_011542414             589 aa            linear   PRI 20-MAR-2023
DEFINITION  consortin isoform X4 [Homo sapiens].
ACCESSION   XP_011542414
VERSION     XP_011542414.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544112.2
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 7% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..589
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..589
                     /product="consortin isoform X4"
                     /calculated_mol_wt=64903
     Region          476..587
                     /region_name="Consortin_C"
                     /note="Consortin C-terminus; pfam15281"
                     /db_xref="CDD:434594"
     CDS             1..589
                     /gene="CNST"
                     /gene_synonym="C1orf71; PPP1R64"
                     /coded_by="XM_011544112.2:238..2007"
                     /db_xref="GeneID:163882"
                     /db_xref="HGNC:HGNC:26486"
                     /db_xref="MIM:613439"
ORIGIN      
        1 mqekvlsavt yavddeeaae vnaneqpeap klvlqslfsl irgeveqlds ralplclhqi
       61 aesyfqeedy ekamkfiqle rlyheqllan lsaiqeqwet kwktvqphtv talrnsekgf
      121 ngedferltk icathqdpll skhkiaavek sqerkcstql lvsedpkegg attkeseskt
      181 clgtesskes qhtveplgss pcchqmdvqt dspslsvtag kdhmeellcs aeatlalhtq
      241 ssetagspsg pdssedaced dsrlqlaqte acqdvarieg iaedpkvfls skskteplis
      301 pgcdrippal isegkysqaq rkelrlplrd asealptdql ennelnelqq pdltdsdgks
      361 pqaqadsdgs envlcgnnqi sdlgillpev cmapeekgdk ddqlnketed ylnsllegcl
      421 kdtedslsye dnqdddsdll qdlspeeasy slqenlpsde sclslddlak rieiaevvpt
      481 eglvsilkkr ndtvgdhpaq mqhkpskrrv rfqeiddsld qdevgggsci llvllciatv
      541 flsvggtaly ctfgdmespv ctdfadnmdf yytkllqgva elkhwiyls
//
LOCUS       XP_047285036            1165 aa            linear   PRI 20-MAR-2023
DEFINITION  probable methyltransferase TARBP1 isoform X11 [Homo sapiens].
ACCESSION   XP_047285036
VERSION     XP_047285036.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429080.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1165
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1165
                     /product="probable methyltransferase TARBP1 isoform X11"
                     /calculated_mol_wt=132382
     Region          1008..1152
                     /region_name="SpoU-like_TRM3-like"
                     /note="SAM-dependent tRNA methylase related to TRM3;
                     cd18091"
                     /db_xref="CDD:349964"
     Site            order(1026..1027,1029..1032,1059,1096..1097,1130..1134,
                     1138..1140,1142..1143,1146..1147,1150..1151)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:349964"
     Site            order(1087..1089,1109..1113,1115,1128..1130,1132,
                     1137..1139,1141,1144)
                     /site_type="other"
                     /note="SAM binding site [chemical binding]"
                     /db_xref="CDD:349964"
     CDS             1..1165
                     /gene="TARBP1"
                     /gene_synonym="TRM3; TRMT3; TRP-185; TRP185"
                     /coded_by="XM_047429080.1:69..3566"
                     /db_xref="GeneID:6894"
                     /db_xref="HGNC:HGNC:11568"
                     /db_xref="MIM:605052"
ORIGIN      
        1 mrfqralcia gsfllkfirk mtsrhwcavp ilflskalan vprhkalgid gllalrdvih
       61 ctmithqill rgaaqcyllq tamnlldvek vslsdvstfl mslrqeeslg rgtslwtelc
      121 dwlrvnesyf kpsptcssig lhktslnayv ksivqeyvks sawetgencf mpdwfeaklv
      181 slmvllavdv egmktqysgk qrtenvlrif ldplldvlmk fstnaympll ktdrclqlll
      241 kllntcrlkg ssaqddevst vlqnffmstt esisefilrr ltmnelnsvs dldrchlylm
      301 vltelinlhl kvgwkrgnpi wrvisllkna siqhlqemds gqeptvgsqi qrvvsmaala
      361 mvceaidqkp elqldslhag plesflsslq lnqtlqkpha eeqssyahpl ecssvleess
      421 ssqgwgkiva qyihdqwvcl sfllkkyhtl ipttgseile pflpavqmpi rtlqsaleal
      481 tvlssdqvlp vfhclkvlvp klltsseslc iesfdmawki isslsntqli fwanlkafvq
      541 fvfdnkvlti aakikgqayf kikeimykii emsaiktgvf ntlisyccqs wivsasnvsq
      601 gslssaknys elileacifg tvfrrdqrlv qdvqtfienl ghdcaanivm entkredhyv
      661 ricavkflcl ldgsnmshkl fiedlaikll dkdelvsksk kryyvnslqh rvknrvwqtl
      721 lvlfprldqn flngiidrif qagftnnqas ikyfiewiii lilhkfpqfl pkfwdcfsyg
      781 eenlktsict flavlshldi itqnipekkl ilkqalivvl qwcfnhnfsv rlyalvalkk
      841 lwtvckvlsv eefdaltpvi esslhqvesm hgagnakknw qriqehfffa tfhplkdycl
      901 etifyilprl sgliedewit idkftrftdv plaagfqwyl sqtqlsklkp gdwsqqdigt
      961 nlveadnqae wtdvqkkiip wnsrvsdldl ellfqdraar lgksisrliv vaslidkptn
     1021 lgglcrtcev fgasvlvvgs lqcisdkqfq hlsvsaeqwl plvevkppql idylqqkkte
     1081 gytiigveqt aksldltqyc fpeksllllg neregipanl iqqldvcvei pqqgiirsln
     1141 vhvsgalliw eytrqqllsh gdtkp
//
LOCUS       XP_011542632             807 aa            linear   PRI 20-MAR-2023
DEFINITION  CSC1-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_011542632
VERSION     XP_011542632.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544330.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..807
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..807
                     /product="CSC1-like protein 1 isoform X1"
                     /calculated_mol_wt=91996
     Region          52..210
                     /region_name="RSN1_TM"
                     /note="Late exocytosis, associated with Golgi transport;
                     pfam13967"
                     /db_xref="CDD:433613"
     Region          228..410
                     /region_name="PHM7_cyt"
                     /note="Cytosolic domain of 10TM putative phosphate
                     transporter; pfam14703"
                     /db_xref="CDD:434143"
     Region          439..692
                     /region_name="RSN1_7TM"
                     /note="Calcium-dependent channel, 7TM region, putative
                     phosphate; pfam02714"
                     /db_xref="CDD:397021"
     CDS             1..807
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /coded_by="XM_011544330.4:92..2515"
                     /db_xref="GeneID:9725"
                     /db_xref="HGNC:HGNC:29118"
                     /db_xref="MIM:618685"
ORIGIN      
        1 mmdspflelw qskavsireq lglgdrpnds ycynsaknst vlqgvtfggi ptvllidvsc
       61 flflilvfsi irrrfwdygr ialvseadse srfqrlssts ssgqqdfene lgccpwltai
      121 frlhddqile wcgedaihyl sfqrhiifll vvvsflslcv ilpvnlsgdl ldkdpysfgr
      181 ttianlqtdn dllwlhtifa viylfltvgf mrhhtqsiky keenlvrrtl fitglprdar
      241 ketveshfrd ayptcevvdv qlcynvakli ylckekkkte ksltyytnlq vktgqrtlin
      301 pkpcgqfccc evlgceweda isyytrmkdr lleriteeer hvqdqplgma fvtfqeksma
      361 tyilkdfnac kcqslqckge pqpsshsrel ytskwtvtfa adpedicwkn lsiqglrwwl
      421 qwlginftlf lglfflttps iilstmdkfn vtkpihalnn piisqffptl llwsfsallp
      481 sivyystlle shwtksgenq immtkvyifl ifmvlilpsl gltsldfffr wlfdktssea
      541 sirlecvflp dqgaffvnyv iasafigngm ellrlpglil ytfrmimakt aadrrnvkqn
      601 qafqyefgam yawmlcvftv ivaysitcpi iapfgliyil lkhmvdrhnl yfvylpakle
      661 kgihfaavnq alaapilclf wlyffsflrl gmkapatlft flvllltilv clahtcfgcf
      721 khlsplnykt eepasdkgse aeahmpppft pyvprilngl asertalspq qqqqqtygai
      781 hnisgtipgq claqsatgsv aaapqea
//
LOCUS       XP_047281698            1385 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C10orf68 isoform X1 [Homo sapiens].
ACCESSION   XP_047281698
VERSION     XP_047281698.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425742.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1385
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..1385
                     /product="uncharacterized protein C10orf68 isoform X1"
                     /calculated_mol_wt=157318
     Region          1..170
                     /region_name="BioT2"
                     /note="Spermatogenesis family BioT2; pfam15368"
                     /db_xref="CDD:434670"
     Region          <164..637
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     CDS             1..1385
                     /gene="CCDC7"
                     /gene_synonym="BIOT2; BioT2-A; BioT2-B; BioT2-C; C10orf68"
                     /coded_by="XM_047425742.1:1080..5237"
                     /db_xref="GeneID:79741"
                     /db_xref="HGNC:HGNC:26533"
                     /db_xref="MIM:619444"
ORIGIN      
        1 mkpvkhlltt snksanvpal ttkkglhnlp lspelkekhn aklihdkiep mvlrspptge
       61 silryalpip ssktknllpe demigkiikh lkmvvstlee tyghcdqnge epfvkhehee
      121 lslsvgddmn sfltycsqfa aqleealkee qnileslfkw fqwqvnqmee iskdqtllqa
      181 eppkpdktvi lniaeivrlv qrfeelknrl kqrskssvkv mlsktmdken rpeavkscea
      241 laqkieefle ahstdefkdv satepqtahs mtnrfnamlk vfenqanmle ravndqvlld
      301 aeykqmqcdf qllseeklvl enelqklkdk ektkptnnrt kkavktvkkk dkgksedsek
      361 kmspekefki kedldqvqkv arleienkvl qeqlkqalqe aekakhqlny flnqekllks
      421 egktettmqv gnsqtkvkge dsknipleke trkslvsdsg gqrtsdkiqe ypqitaqsgr
      481 liekssekkr sspaisdlsq ilksqdesaf lessnevsva enqsykspse thdkslttvs
      541 sskevqdsls vgtlaqknet vispfilppv lteskkadvs eeqlqkmtee qtyqaaeksq
      601 adsevpdenl mvenkdsvtk vqieqmkqrt ssmerheetl ttpqlpedmv lvsriqsetk
      661 nlkatrnesf hshndvpeen lmleqdtksk tevevkkqks fqdnqlsthn evpnerlvve
      721 hqeslsktkl qikkqetste qplttpdkep nenlilrhqd smsksemqvk eqrtlkgqri
      781 ithdeepgkn lvlehqdsvs klemqiektk klprekrhst hdeesgenpm lkhqdsvski
      841 qvqleiqets egegrsipdk nsmfvhqdsv sklqmqekkk itpgrerrnt rivvpnenvi
      901 svhqdskskl qmqekkqins gverhktfpl eikkkdisle hllpeekvll srsesqtkkl
      961 qakvtsrkik neaaselpdt aenlpamyps isdliiqfdl nkvvetdies lrgalgrrll
     1021 ndefktqsks fpgpdieqlt dafgrdilkd efktrskslp etderlhstt ergtindaik
     1081 tqlkrksype tvlkhlkgvn gkdiikhlin iqskshgetd kehladdtgr giikgsinaq
     1141 lkghqktdkn ffayatgrgl mkestttqlk shpetdkefl adaigrgiii gpittqlksh
     1201 retdkellkd aigrdiikgp isaqlkshqe tdvepltnai gssktigeik tqlrthydvn
     1261 lfknkdmsvq rqegiftrsi tpskfptkvi nlspfenkee tyeysspyvt apskaiyrty
     1321 ragpsfskdi hlpllnqlps ghskvvtlsq ktieftlptv tntvgkptyk vlhaaarksv
     1381 phpyf
//
LOCUS       XP_047282345             595 aa            linear   PRI 20-MAR-2023
DEFINITION  X-ray radiation resistance-associated protein 1 isoform X19 [Homo
            sapiens].
ACCESSION   XP_047282345
VERSION     XP_047282345.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426389.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..595
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..595
                     /product="X-ray radiation resistance-associated protein 1
                     isoform X19"
                     /calculated_mol_wt=67647
     Region          73..>113
                     /region_name="LRR_8"
                     /note="Leucine rich repeat; pfam13855"
                     /db_xref="CDD:404697"
     Region          75..99
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..595
                     /gene="XRRA1"
                     /coded_by="XM_047426389.1:182..1969"
                     /db_xref="GeneID:143570"
                     /db_xref="HGNC:HGNC:18868"
                     /db_xref="MIM:609788"
ORIGIN      
        1 malppcrpiw psqnnrgsrp rdaqhqpevt qqakqqqhrs qssgilatlp mhlliweasv
       61 tsltskryil rfpaletlml ddnrlsnpsc faslaglrrl kklsldenri iripylqqvq
      121 lydesvdwng grgsphkepq fmlqskprml edsdeqldyt vlpmkkdvdr tevvfssypg
      181 fstseiaked avlpvalfps lcefvfhnnp lvahtrgvpp llksflqerl gihlirrkiv
      241 kpkhhvlmsr keswkvksei pkvpkqplvl hhprmtttks pskdmlepea elaedlpttk
      301 stsvesempt enleghspsc rtfvplppic snstvhseet lshlsdttvr lsperpsded
      361 skstesiflt qvselpssvi hkddlelkek dqkkpptapr evkgtrrklp taflpskyhg
      421 yeelltakpd pafiepkgiq knaqalqqml khpllchssk pkldtlqkpy vhkekraqri
      481 pipppkktra qllddifirl rdprniteap lgavlhqwte rrlvnhkqyl eakrllkefq
      541 aryrqlvsgs lrtvfgttpl pmacpalses qpkfghflef mdefcqepta sdsqg
//
LOCUS       XP_047282917             532 aa            linear   PRI 20-MAR-2023
DEFINITION  caprin-1 isoform X1 [Homo sapiens].
ACCESSION   XP_047282917
VERSION     XP_047282917.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047426961.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..532
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..532
                     /product="caprin-1 isoform X1"
                     /calculated_mol_wt=58678
     Region          132..247
                     /region_name="Caprin-1_dimer"
                     /note="Caprin-1 dimerization domain; pfam18293"
                     /db_xref="CDD:436391"
     Region          359..>518
                     /region_name="Caprin-1_C"
                     /note="Cytoplasmic activation/proliferation-associated
                     protein-1 C term; pfam12287"
                     /db_xref="CDD:432456"
     CDS             1..532
                     /gene="CAPRIN1"
                     /gene_synonym="GPIAP1; GPIP137; GRIP137; M11S1; p137GPI;
                     RNG105"
                     /coded_by="XM_047426961.1:122..1720"
                     /db_xref="GeneID:4076"
                     /db_xref="HGNC:HGNC:6743"
                     /db_xref="MIM:601178"
ORIGIN      
        1 mpsatshsgs gskssgpppp sgssgseaaa gagaaapasq hpatgtgavq teamkqilgv
       61 idkklrnlek kkgklddyqe rmnkgerlnq dqldavskyq evtnnlefak elqrsfmals
      121 qdiqktikkt arreqlmree aeqkrlktvl elqyvldklg ddevrtdlkq glngvpilse
      181 eelslldefy klvdperdms lrlneqyeha sihlwdlleg kekpvcgtty kvlkeiverv
      241 fqsnyfdsth nhqnglceee eaasapaved qvpeaepepa eeyteqseve steyvnrqfm
      301 aetqftsgek eqvdewtvet vevvnslqqq pqaaspsvpe phsltpvaqa dplvrrqrvq
      361 dlmaqmqgpy nfiqdsmldf enqtldpaiv saqpmnptqn mdmpqlvcpp vhsesrlaqp
      421 nqvpvqpeat qvplvsstse gytasqplyq pshateqrpq kepidqiqat islntdqtta
      481 ssslpaasqp qvfqagtskp lhssginvna apfqsmqtwl altmvpqtsp ik
//
LOCUS       XP_011536840            2242 aa            linear   PRI 20-MAR-2023
DEFINITION  stabilin-2 isoform X3 [Homo sapiens].
ACCESSION   XP_011536840
VERSION     XP_011536840.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011538538.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..2242
                     /product="stabilin-2 isoform X3"
                     /calculated_mol_wt=243120
     Region          246..275
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          326..361
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          382..505
                     /region_name="Fasciclin"
                     /note="Fasciclin domain; pfam02469"
                     /db_xref="CDD:396845"
     Region          526..654
                     /region_name="Fasciclin"
                     /note="Fasciclin domain; pfam02469"
                     /db_xref="CDD:396845"
     Region          837..865
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          876..908
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          920..951
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          957..993
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          1009..1129
                     /region_name="Fasciclin"
                     /note="Fasciclin domain; pfam02469"
                     /db_xref="CDD:396845"
     Region          1148..1265
                     /region_name="Fasciclin"
                     /note="Fasciclin domain; pfam02469"
                     /db_xref="CDD:396845"
     Region          1437..1469
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          1475..1511
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          1517..1553
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          1559..1595
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          1617..1726
                     /region_name="Fasciclin"
                     /note="Fasciclin domain; pfam02469"
                     /db_xref="CDD:396845"
     Region          1752..1882
                     /region_name="Fasciclin"
                     /note="Fasciclin domain; pfam02469"
                     /db_xref="CDD:396845"
     Region          2086..2121
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          2127..2164
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:432893"
     Region          2198..>2238
                     /region_name="Link_Domain"
                     /note="The link domain is a hyaluronan (HA)-binding
                     domain. It functions to mediate adhesive interactions
                     during inflammatory leukocyte homing and tumor metastasis.
                     It is found in the CD44 receptor and in human TSG-6. TSG-6
                     is the protein product of the tumor...; cl02612"
                     /db_xref="CDD:445853"
     Site            2208..2209
                     /site_type="other"
                     /note="putative hyaluronan binding site [chemical
                     binding]"
                     /db_xref="CDD:238534"
     CDS             1..2242
                     /gene="STAB2"
                     /gene_synonym="FEEL2; FELE-2; FELL2; FEX2; HARE; SCARH1"
                     /coded_by="XM_011538538.4:205..6933"
                     /db_xref="GeneID:55576"
                     /db_xref="HGNC:HGNC:18629"
                     /db_xref="MIM:608561"
ORIGIN      
        1 mmlqhlvifc lglvvqnfcs paettgqarr cdrkslltir tecrscalnl gvkcpdgytm
       61 itsgsvgvrd crytfevrty slslpgcrhi crkdylqprc cpgrwgpdci ecpggagspc
      121 ngrgscaegm egngtcscqe gfggtacetc addnlfgpsc ssvcncvhgv cnsgldgdgt
      181 cecysaytgp kcdkpipeca allcpensrc spstedenkl eckclpnyrg dgkycdpinp
      241 clrkichpha hctylgpnrh sctcqegyrg dgqvclpvdp cqinfgncpt kstvckydgp
      301 gqshceckeh yqnfvpgvgc smtdicksdn pchrnanctt vapgrtecic qkgyvgdglt
      361 cygnimerlr elnteprgkw qgrltsfisl ldkayawpls klgpftvllp tdkglkgfnv
      421 nellvdnkaa qyfvklhiia gqmnieymnn tdmfytltgk sgeifnsdkd nqiklklhgg
      481 kkkvkiiqgd iiasngllhi ldramdklep tfesnneqti mtmlqprysk frslleetnl
      541 ghaldedgvg gpytifvpnn ealnnmkdgt ldyllspegs rkllelvryh ivpftqleva
      601 tlistphirs manqliqfnt tdngqiland vameeieita kngriytltg vlippsivpi
      661 lphrcdetkr emklgtcvsc slvywsrcpa nseptalfth rcvysgrfgs lksgcarycn
      721 atvkipkcck gfygpdcnqc pggfsnpcsg ngqcadslgg ngtciceegf qgsqcqfcsd
      781 pnkygprcnk kclcvhgtcn nridsdgacl tgtcrdgsag rlcdkqtsac gpyvqfchih
      841 atceysngta scickagyeg dgtlcsemdp ctgltpggcs rnaeciktgt gthtcvcqqg
      901 wtgngrdcse inncllpsag gchdnascly vgpgqnecec kkgfrgngid cepitscleq
      961 tgkchplasc qstssgvwsc vcqegyegdg flcygnaave lsflseaaif nrwinnaslq
     1021 ptlsatsnlt vlvpsqqate dmdqdeksfw lsqsnipali kyhmllgtyr vadlqtlsss
     1081 dmlatslqgn flhlakvdgn itiegasivd gdnaatngvi hiinkvlvpq rrltgslpnl
     1141 lmrleqmpdy sifrgyiiqy nlanaieaad aytvfapnnn aienyirekk vlsleedvlr
     1201 yhvvleekll kndlhngmhr etmlgfsyfl sfflhndqly vneapinytn vatdkgvihg
     1261 lgkvleiqkn rcdnndttii rgrcrtcsse ltcpfgtksl gnekrrciyt syfmgrrtlf
     1321 igcqpkcvrt vitreccagf fgpqcqpcpg naqnvcfgng icldgvngtg vcecgegfsg
     1381 tacetctegk ygihcdqacs cvhgrcnqgp lgdgscdcdv gwrgvhcdna ttedncngtc
     1441 htsancltns dgtasckcaa gfqgngtict ainaceisng gcsakadckr ttpgrrvctc
     1501 kagytgdgiv cleinpclen hggcdknaec tqtgpnqaac nclpaytgdg kvctlinvcl
     1561 tknggcsefa icnhtgqver tctckpnyig dgftcrgsiy qelpknpkts qyffqlqehf
     1621 vkdlvgpgpf tvfaplsaaf deearvkdwd kyglmpqvlr yhvvachqll lenlklisna
     1681 tslqgepivi svsqstvyin nkakiissdi istngivhii dkllspknll itpkdnsgri
     1741 lqnlttlatn ngyikfsnli qdsgllsvit dpihtpvtlf wptdqalhal paeqqdflfn
     1801 qdnkdklkey lkfhvirdak vlavdlptst awktlqgsel svkcgagrdi gdlflngqtc
     1861 rivqrellfd lgvaygidcl lidptlggrc dtfttfdasg ecgscvntps cprwskpkgv
     1921 kqkclynlpf krnlegcrer cslviqiprc ckgyfgrdcq acpggpdapc nnrgvcldqy
     1981 satgeckcnt gfngtacemc wpgrfgpdcl pcgcsdhgqc ddgitgsgqc lcetgwtgps
     2041 cdtqavlpav ctppcsahat ckenntcecn ldyegdgitc tvvdfckqdn ggcakvarcs
     2101 qkgtkvscsc qkgykgdghs cteidpcadg lnggchehat ckmtgpgkhk ceckshyvgd
     2161 glncepeqlp idrclqdngq chadakcvdl hfqdttvgvf hlrsplgqyk ltfdkareac
     2221 aneaatmaty nqlsyaqkre ek
//
LOCUS       XP_005253521             649 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP-dependent DNA helicase Q1 isoform X1 [Homo sapiens].
ACCESSION   XP_005253521
VERSION     XP_005253521.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005253464.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..649
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..649
                     /product="ATP-dependent DNA helicase Q1 isoform X1"
                     /calculated_mol_wt=73327
     Region          81..543
                     /region_name="recQ_fam"
                     /note="ATP-dependent DNA helicase, RecQ family; TIGR00614"
                     /db_xref="CDD:129701"
     CDS             1..649
                     /gene="RECQL"
                     /gene_synonym="RecQ1; RECQL1"
                     /coded_by="XM_005253464.5:219..2168"
                     /db_xref="GeneID:5965"
                     /db_xref="HGNC:HGNC:9948"
                     /db_xref="MIM:600537"
ORIGIN      
        1 masvsaltee ldsitselha veiqiqelte rqqeliqkkk vltkkikqcl edsdagasne
       61 ydsspaawnk edfpwsgkvk dilqnvfkle kfrplqleti nvtmagkevf lvmptgggks
      121 lcyqlpalcs dgftlvicpl islmedqlmv lkqlgisatm lnassskehv kwvhaemvnk
      181 nselkliyvt pekiakskmf msrlekayea rrftriavde vhccsqwghd frpdykalgi
      241 lkrqfpnasl igltatatnh vltdaqkilc iekcftftas fnrpnlyyev rqkpsntedf
      301 iedivkling rykgqsgiiy cfsqkdseqv tvslqnlgih agayhanlep edkttvhrkw
      361 saneiqvvva tvafgmgidk pdvrfvihhs msksmenyyq esgragrddm kadcilyygf
      421 gdifrissmv vmenvgqqkl yemvsycqni skcrrvlmaq hfdevwnsea cnkmcdncck
      481 dsaferknit eycrdlikil kqaeelnekl tplklidswm gkgaaklrva gvvaptlpre
      541 dlekiiahfl iqqylkedys ftayatisyl kigpkanlln neahaitmqv tkstqnsfra
      601 essqtchseq gdkkmeekns gnfqkkaanm lqqsgskntg akkrkidda
//
LOCUS       XP_047285483             308 aa            linear   PRI 20-MAR-2023
DEFINITION  voltage-dependent L-type calcium channel subunit beta-3 isoform X2
            [Homo sapiens].
ACCESSION   XP_047285483
VERSION     XP_047285483.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429527.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..308
                     /product="voltage-dependent L-type calcium channel subunit
                     beta-3 isoform X2"
                     /calculated_mol_wt=34679
     Region          1..180
                     /region_name="Guanylate_kin"
                     /note="Guanylate kinase; pfam00625"
                     /db_xref="CDD:395500"
     CDS             1..308
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /coded_by="XM_047429527.1:606..1532"
                     /db_xref="GeneID:784"
                     /db_xref="HGNC:HGNC:1403"
                     /db_xref="MIM:601958"
ORIGIN      
        1 mrpvvlvgps lkgyevtdmm qkalfdflkh rfdgrisitr vtadlslakr svlnnpgkrt
       61 iierssarss iaevqseier ifelakslql vvldadtinh paqlaktsla piivfvkvss
      121 pkvlqrlirs rgksqmkhlt vqmmaydklv qcppesfdvi ldenqledac ehlaeylevy
      181 wrathhpapg pgllgppsai pglqnqqllg ergeehsple rdslmpsdea sessrqawtg
      241 ssqrssrhle edyadayqdl yqphrqhtsg lpsanghdpq drllaqdseh nhsdrnwqrn
      301 rpwpkdsy
//
LOCUS       XP_047286464            1007 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein 26 isoform X13 [Homo sapiens].
ACCESSION   XP_047286464
VERSION     XP_047286464.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430508.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1007
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..1007
                     /product="RNA-binding protein 26 isoform X13"
                     /calculated_mol_wt=113331
     Region          11..76
                     /region_name="PWI"
                     /note="PWI domain; cl02562"
                     /db_xref="CDD:445831"
     Region          <294..314
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     Region          531..606
                     /region_name="RRM1_RBM26"
                     /note="RNA recognition motif 1 (RRM1) found in vertebrate
                     RNA-binding protein 26 (RBM26); cd12516"
                     /db_xref="CDD:409938"
     Region          <719..>841
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          883..954
                     /region_name="RRM2_RBM26_like"
                     /note="RNA recognition motif 2 (RRM2) found in vertebrate
                     RNA-binding protein 26 (RBM26) and similar proteins;
                     cd12258"
                     /db_xref="CDD:409703"
     CDS             1..1007
                     /gene="RBM26"
                     /gene_synonym="ARRS2; C13orf10; PPP1R132; PRO1777; SE70-2;
                     ZC3H17"
                     /coded_by="XM_047430508.1:482..3505"
                     /db_xref="GeneID:64062"
                     /db_xref="HGNC:HGNC:20327"
                     /db_xref="MIM:620081"
ORIGIN      
        1 mvskmiienf ealkswlskt lepicdadps alakyvlalv kkdksekelk alcidqldvf
       61 lqketqifve klfdavntks ylpppeqpss gslkveffph qekdikkeei tkeeerekkf
      121 srrlnhsppq sssryrenrs rderkkddrs rkrdydrnpp rrdsyrdryn rrrgrsrsys
      181 rsrsrswske rlrerdrdrs rtrsrsrtrs rerdlvkpky dldrtdplen nytpvssvps
      241 issghypvpt lsstitviap thhgnnttes wsefhedqvd hnsyvrppmp kkrcrdydek
      301 gfcmrgdmcp fdhgsdpvvv edvnlpgmlp fpaqppvveg ppppglpppp piltpppvnl
      361 rppvpppgpl ppslppvtgp ppplpplqps gmdappnsat ssvptvvttg ihhqpppapp
      421 slftadtydt dgynpeapsi tntsrpmyrh rvhaqrpnli gltsgdmdlp prekppnkss
      481 mrivvdsesr krtigsgepg vptkktwfdk pnfnrtnspg fqkkvqfgne ntklelrkvp
      541 pelnniskln ehfsrfgtlv nlqvayngdp egaliqfaty eeakkaisst eavlnnrfik
      601 vywhregstq qlqttspkpl vqqpilpvvk qsvkerlgpv psstiepaea qsassdlpqn
      661 vtklsvkdrl gfvskpsvsa tekvlststg ltktvynpaa lkaaqktllv stsavdnnea
      721 qkkkqealkl qqdvrkrkqe ilekhietqk mliskleknk tmksedkaei mktlevltkn
      781 itklkdevka aspgrclpks iktktqmqke lldteldlyk kmqageevte lrrkytelql
      841 eaakrgilss grgrgihsrg rgavhgrgrg rgrgrgvpgh avvdhrpral eisaftesdr
      901 edllphfaqy geiedcqidd sslhavitfk traeaeaaav hgarfkgqdl klawnkpvtn
      961 isaveteeve pdeeeiipls fhefelngek srrapgiryf ekfeiav
//
LOCUS       XP_047287229             121 aa            linear   PRI 20-MAR-2023
DEFINITION  ATP synthase subunit s, mitochondrial isoform X4 [Homo sapiens].
ACCESSION   XP_047287229
VERSION     XP_047287229.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431273.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..121
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..121
                     /product="ATP synthase subunit s, mitochondrial isoform
                     X4"
                     /calculated_mol_wt=13914
     CDS             1..121
                     /gene="DMAC2L"
                     /gene_synonym="ATP5S; ATPW; FB; HSU79253"
                     /coded_by="XM_047431273.1:72..437"
                     /db_xref="GeneID:27109"
                     /db_xref="HGNC:HGNC:18799"
                     /db_xref="MIM:618579"
ORIGIN      
        1 mmpfgkisqq lcgvkklpws cdsryfwgwl navfnkvdyd rirdvgpdra asewllrcga
       61 mvryhgqerw qkdynhlptg pldkykiqai datdscimsi gfdhmgnypi vllienaddl
      121 q
//
LOCUS       XP_047287556             467 aa            linear   PRI 20-MAR-2023
DEFINITION  presenilin-1 isoform X1 [Homo sapiens].
ACCESSION   XP_047287556
VERSION     XP_047287556.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431600.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..467
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..467
                     /product="presenilin-1 isoform X1"
                     /calculated_mol_wt=52537
     Region          76..457
                     /region_name="Presenilin"
                     /note="pfam01080"
                     /db_xref="CDD:426034"
     CDS             1..467
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /coded_by="XM_047431600.1:1782..3185"
                     /db_xref="GeneID:5663"
                     /db_xref="HGNC:HGNC:9508"
                     /db_xref="MIM:104311"
ORIGIN      
        1 mtelpaplsy fqnaqmsedn hlsntvrsqn dnrerqehnd rrslghpepl sngrpqgnsr
       61 qvveqdeeed eeltlkygak hvimlfvpvt lcmvvvvati ksvsfytrkd gqliytpfte
      121 dtetvgqral hsilnaaimi svivvmtill vvlykyrcyk vihawliiss llllfffsfi
      181 ylgevfktyn vavdyitval liwnfgvvgm isihwkgplr lqqaylimis almalvfiky
      241 lpewtawlil avisvydlva vlcpkgplrm lvetaqerne tlfpaliyss tmvwlvnmae
      301 gdpeaqrrvs knskynaest eresqdtvae nddggfseew eaqrdshlgp hrstpesraa
      361 vqelsssila gedpeergvk lglgdfifys vlvgkasata sgdwnttiac fvailiglcl
      421 tllllaifkk alpalpisit fglvfyfatd ylvqpfmdql afhqfyi
//
LOCUS       XP_011519984            1197 aa            linear   PRI 20-MAR-2023
DEFINITION  dual oxidase 1 isoform X3 [Homo sapiens].
ACCESSION   XP_011519984
VERSION     XP_011519984.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521682.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1197
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1197
                     /product="dual oxidase 1 isoform X3"
                     /calculated_mol_wt=137474
     Region          <52..237
                     /region_name="An_peroxidase_like"
                     /note="Animal heme peroxidases and related proteins;
                     cl14561"
                     /db_xref="CDD:353811"
     Region          396..566
                     /region_name="FRQ1"
                     /note="Ca2+-binding protein, EF-hand superfamily [Signal
                     transduction mechanisms]; COG5126"
                     /db_xref="CDD:227455"
     Region          466..527
                     /region_name="EFh"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     cd00051"
                     /db_xref="CDD:238008"
     Site            order(474,476,478,485,510,512,514,521)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238008"
     Region          735..>1058
                     /region_name="PLN02292"
                     /note="ferric-chelate reductase"
                     /db_xref="CDD:215165"
     Region          923..1197
                     /region_name="NOX_Duox_like_FAD_NADP"
                     /note="NADPH oxidase (NOX) catalyzes the generation of
                     reactive oxygen species (ROS) such as superoxide and
                     hydrogen peroxide. ROS were originally identified as
                     bactericidal agents in phagocytes, but are now also
                     implicated in cell signaling and metabolism. NOX...;
                     cd06186"
                     /db_xref="CDD:99783"
     Site            order(951,965..968,981..983,986..989,1036)
                     /site_type="other"
                     /note="FAD binding pocket [chemical binding]"
                     /db_xref="CDD:99783"
     Site            order(965,967..968)
                     /site_type="other"
                     /note="FAD binding motif [chemical binding]"
                     /db_xref="CDD:99783"
     Site            1031..1041
                     /site_type="other"
                     /note="NAD pyrophosphate binding region [chemical
                     binding]"
                     /db_xref="CDD:99783"
     Site            order(1031,1035..1038,1040)
                     /site_type="other"
                     /note="beta-alpha-beta stucture motif"
                     /db_xref="CDD:99783"
     Site            order(1036..1037,1068..1070,1167..1168)
                     /site_type="other"
                     /note="NAD binding pocket [chemical binding]"
                     /db_xref="CDD:99783"
     Site            order(1066..1067,1070)
                     /site_type="other"
                     /note="NADP ribose binding motif [chemical binding]"
                     /db_xref="CDD:99783"
     CDS             1..1197
                     /gene="DUOX1"
                     /gene_synonym="LNOX1; NOXEF1; THOX1"
                     /coded_by="XM_011521682.2:20..3613"
                     /db_xref="GeneID:53905"
                     /db_xref="HGNC:HGNC:3062"
                     /db_xref="MIM:606758"
ORIGIN      
        1 mwmhccwawp prsqsertmc wlkmcgvslr lslqvvnswp lgrgsaglpe pdfwpgplkf
       61 srtdhlascl qrgrdlglps ytkaraalgl spitrwqdin palsrsndtv leataalynq
      121 dlswlellpg glleshrdpg plfstivleq fvrlrdgdry wfentrnglf skkeieeirn
      181 ttlqdvlvav inidpsalqp nvfvwhkgdp cpqprqlste glpacapsvv rdyfegsgfg
      241 fgvtigtlcc fplvsllsaw ivarlrmrnf krlqgqdrqs ivseklvggm ealewqghke
      301 pcrpvlvylq pgqirvvdgr ltvlrtiqlq ppqkvnfvls snrgrrtlll kipkeydlvl
      361 lfnleeerqa lvenlrgalk esglsiqewe lreqelmraa vtreqrrhll etffrhlfsq
      421 vldinqadag tlpldssqkv realtcelsr aefaeslglk pqdmfvesmf sladkdgngy
      481 lsfrefldil vvfmkgspee ksrlmfrmyd fdgngliskd efirmlrsfi eisnnclska
      541 qlaevvesmf resgfqdkee ltwedfhfml rdhnselrft qlcvkgvevp evikdlcrra
      601 syisqdmicp sprvsarcsr sdieteltpq rlqcpmdtdp pqeirrrfgk kvtsfqpllf
      661 teahrekfqr sclhqtvqqf krfienyrrh igcvavfyai agglfleray yyafaahhtg
      721 itdttrvgii lsrgtaasis fmfsyilltm crnlitflre tflnryvpfd aavdfhrlia
      781 staivltvlh svghvvnvyl fsisplsvls clfpglfhdd gselpqkyyw wffqtvpglt
      841 gvvlllilai myvfashhfr rrsfrgfwlt hhlyillyvl liihgsfali qlprfhiffl
      901 vpaiiyggdk lvslsrkkve isvvkaellp sgvthlrfqr pqgfeyksgq wvriaclalg
      961 tteyhpftlt saphedtlsl hiraagpwtt rlreiysapt gdrcarypkl yldgpfgegh
     1021 qewhkfevsv lvgggigvtp fasilkdlvf kssvscqvfc kkiyfiwvtr tqrqfewlad
     1081 iireveendh qdlvsvhiyi tqlaekfdlr ttmlyicerh fqkvlnrslf tglrsithfg
     1141 rppfepffns lqevhpqvrk igvfscgppg mtknvekacq linrqdrthf shhyenf
//
LOCUS       XP_047289272             376 aa            linear   PRI 20-MAR-2023
DEFINITION  RCC1 domain-containing protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047289272
VERSION     XP_047289272.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433316.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..376
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..376
                     /product="RCC1 domain-containing protein 1 isoform X1"
                     /calculated_mol_wt=39948
     Region          <156..340
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:227511"
     Region          319..366
                     /region_name="RCC1"
                     /note="Regulator of chromosome condensation (RCC1) repeat;
                     pfam00415"
                     /db_xref="CDD:395335"
     CDS             1..376
                     /gene="RCCD1"
                     /coded_by="XM_047433316.1:693..1823"
                     /db_xref="GeneID:91433"
                     /db_xref="HGNC:HGNC:30457"
                     /db_xref="MIM:617997"
ORIGIN      
        1 maeerpgawf gfgfcgfgqe lgsgrgrqvh spsplragvd icrvsaswsy tafvtrggrl
       61 elsgsasgaa grckdawase gllavlragp gpeallqvwa aesalrgepl waqnvvpeae
      121 geddpageaq agrlpllpca rayvsprapf yrplapelra rqlelgaeha llldaagqvf
      181 swgggrhgql ghgtleaele prllealqgl vmaevaaggw hsvcvsetgd iyiwgwnesg
      241 qlalptrnla edgetvarea telnedgsqv krtggaedga papfiavqpf palldlpmgs
      301 davkascgsr htavvtrtge lytwgwgkyg qlghedttsl drprrveyfv dkqlqvkavt
      361 cgpwntyvya vekgks
//
LOCUS       XP_011521380             694 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIFC3 isoform X16 [Homo sapiens].
ACCESSION   XP_011521380
VERSION     XP_011521380.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523078.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..694
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..694
                     /product="kinesin-like protein KIFC3 isoform X16"
                     /calculated_mol_wt=77722
     Region          <3..301
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          304..631
                     /region_name="KISc_C_terminal"
                     /note="Kinesin motor domain, KIFC2/KIFC3/ncd-like
                     carboxy-terminal kinesins; cd01366"
                     /db_xref="CDD:276817"
     Site            order(314,389,392,394..397,535)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276817"
     Site            order(582,585,588)
                     /site_type="other"
                     /note="microtubule interaction site [polypeptide binding]"
                     /db_xref="CDD:276817"
     CDS             1..694
                     /gene="KIFC3"
                     /coded_by="XM_011523078.2:426..2510"
                     /db_xref="GeneID:3801"
                     /db_xref="HGNC:HGNC:6326"
                     /db_xref="MIM:604535"
ORIGIN      
        1 mvenerlrqe mrrceaelqe lrtkpagpcp gcehsqesaq lrdklsqlql emaeskgmls
       61 elnlevqqkt drlaevelrl kdclaekaqe eerlsrrlrd shetiaslra qsppvkyvik
      121 tvevessktk qalsesqarn qhlqeqvamq rqvlkemeqq lqsshqltar lraqiamyes
      181 elerahgqml eemqsleedk nraieeafar aqvemkavhe nlagvrtnll tlqpalrtlt
      241 ndynglkrqv rgfplllqea lrsvkaeigq aieevnsnnq ellrkyrrel qlrkkchnel
      301 vrlkgnirvi arvrpvtked gegpeatnav tfdadddsii hllhkgkpvs feldkvfspq
      361 asqqdvfqev qalvtscidg fnvcifaygq tgagktytme gtaenpginq ralqllfsev
      421 qekasdweyt itvsaaeiyn evlrdllgke pqekleirlc pdgsgqlyvp gltefqvqsv
      481 ddinkvfefg htnrtteftn lnehssrsha llivtvrgvd cstglrttgk lnlvdlagse
      541 rvgksgaegs rlreaqhink slsalgdvia alrsrqghvp frnskltyll qdslsgdskt
      601 lmvvqvspve kntsetlysl kfaervrsve lgpglrrael gswssqehle wepacqtpqp
      661 sarahsapss gtssrpgsir rklqpsgksr plpv
//
LOCUS       XP_016879026             818 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleotide-binding oligomerization domain-containing protein 2
            isoform X3 [Homo sapiens].
ACCESSION   XP_016879026
VERSION     XP_016879026.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017023537.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..818
                     /product="nucleotide-binding oligomerization
                     domain-containing protein 2 isoform X3"
                     /calculated_mol_wt=90263
     Region          71..241
                     /region_name="NACHT"
                     /note="NACHT domain; pfam05729"
                     /db_xref="CDD:428606"
     Region          324..379
                     /region_name="NOD2_WH"
                     /note="NOD2 winged helix domain; pfam17779"
                     /db_xref="CDD:436037"
     Region          381..535
                     /region_name="NLRC4_HD2"
                     /note="NLRC4 helical domain HD2; pfam17776"
                     /db_xref="CDD:436035"
     Region          542..569
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275381"
     Region          545..810
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Site            order(545,547,550,552,570,573,575,578,580,598,600,603,605,
                     623,626,628,631,633,651,654,656,659,661,679,682,684,687,
                     689,707,710,712,715,717,735,738,740,743,745,763,766,768,
                     771,773,791,794,796,799,801)
                     /site_type="active"
                     /note="Leucine-rich repeats [active]"
                     /db_xref="CDD:238064"
     Site            order(548..549,602,658,686,742,767,769,795)
                     /site_type="other"
                     /note="Substrate binding site [chemical binding]"
                     /db_xref="CDD:238064"
     Region          573..594
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          598..622
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          623..646
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          647..678
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          679..706
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          707..730
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          735..762
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          763..784
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..818
                     /gene="NOD2"
                     /gene_synonym="ACUG; BLAU; BLAUS; CARD15; CD; CLR16.3;
                     IBD1; NLRC2; NOD2B; PSORAS1; YAOS"
                     /coded_by="XM_017023537.2:78..2534"
                     /db_xref="GeneID:64127"
                     /db_xref="HGNC:HGNC:5331"
                     /db_xref="MIM:605956"
ORIGIN      
        1 maklrttvsa qsrflstydg aetlclediy tenvlevwad vgmagppqks patlgleelf
       61 stpghlndda dtvlvvgeag sgkstllqrl hllwaagqdf qeflfvfpfs crqlqcmakp
      121 lsvrtllfeh ccwpdvgqed ifqllldhpd rvlltfdgfd efkfrftdre rhcsptdpts
      181 vqtllfnllq gnllknarkv vtsrpaavsa flrkyirtef nlkgfseqgi elylrkrhhe
      241 pgvadrlirl lqetsalhgl chlpvfswmv skchqelllq eggspktttd myllilqhfl
      301 lhatppdsas qglgpsllrg rlptllhlgr lalwglgmcc yvfsaqqlqa aqvspddisl
      361 gflvrakgvv pgstaplefl hitfqcffaa fylalsadvp pallrhlfnc grpgnspmar
      421 llptmciqas egkdssvaal lqkaephnlq itaaflagll srehwgllae cqtsekallr
      481 rqacarwcla rslrkhfhsi ppaapgeaks vhampgfiwl irslyemqee rlarkaargl
      541 nvghlkltfc svgptecaal afvlqhlrrp valqldynsv gdigveqllp clgvckalyl
      601 rdnnisdrgi ckliecalhc eqlqklalfn nkltdgcahs makllacrqn flalrlgnny
      661 itaagaqvla eglrgntslq flgfwgnrvg degaqalaea lgdhqslrwl slvgnnigsv
      721 gaqalalmla knvmleelcl eenhlqdegv cslaeglkkn sslkilklsn ncitylgaea
      781 llqalerndt ilevwlrgnt fsleevdklg crdtrlll
//
LOCUS       XP_047292267             238 aa            linear   PRI 20-MAR-2023
DEFINITION  protein PIMREG isoform X2 [Homo sapiens].
ACCESSION   XP_047292267
VERSION     XP_047292267.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436311.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..238
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..238
                     /product="protein PIMREG isoform X2"
                     /calculated_mol_wt=26111
     Region          1..231
                     /region_name="DUF1466"
                     /note="Protein of unknown function (DUF1466); pfam07326"
                     /db_xref="CDD:429410"
     CDS             1..238
                     /gene="PIMREG"
                     /gene_synonym="CATS; FAM64A; RCS1"
                     /coded_by="XM_047436311.1:70..786"
                     /db_xref="GeneID:54478"
                     /db_xref="HGNC:HGNC:25483"
                     /db_xref="MIM:617611"
ORIGIN      
        1 masrwqnmgt svrrrslqhq eqledskelq pvvshqetsv galgslcrqf qrrlplravn
       61 lnlragpswk rletpepgqq glqaaarsak salgavsqri qescqsgtkw lvetqvkarr
      121 rkrgaqkgsg spthslsqks trlsgaapah saadpwekeh hrlsvrmgsh ahplrrsrre
      181 aafrspysst eplcspsesd sdlepvgagi qhlqklsqel deaimaeesg divslihd
//
LOCUS       XP_011524376             587 aa            linear   PRI 20-MAR-2023
DEFINITION  mitogen-activated protein kinase 4 isoform X1 [Homo sapiens].
ACCESSION   XP_011524376
VERSION     XP_011524376.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011526074.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..587
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..587
                     /product="mitogen-activated protein kinase 4 isoform X1"
                     /calculated_mol_wt=65791
     Region          14..351
                     /region_name="STKc_MAPK4_6"
                     /note="Catalytic domain of the Serine/Threonine Kinases,
                     Mitogen-Activated Protein Kinases 4 (also called ERK4) and
                     6 (also called ERK3); cd07854"
                     /db_xref="CDD:143359"
     Site            order(26..29,31..32,34,47,49,64,78,105..108,111,113..114,
                     149,151,153..154,156,167..168,171,186,188..191,193,231)
                     /site_type="active"
                     /db_xref="CDD:143359"
     Site            order(26..29,31..32,34,47,49,78,105..108,111,114,151,
                     153..154,156,167..168)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:143359"
     Site            order(64,113,149,151,171,186,188..191,193,231)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:143359"
     Site            order(75,109..110,115,125,128,135,157..160,162,315,317,
                     320)
                     /site_type="other"
                     /note="KIM docking site [polypeptide binding]"
                     /db_xref="CDD:143359"
     Site            167..193
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:143359"
     CDS             1..587
                     /gene="MAPK4"
                     /gene_synonym="ERK-4; ERK4; p63-MAPK; p63MAPK; PRKM4"
                     /coded_by="XM_011526074.3:1298..3061"
                     /db_xref="GeneID:5596"
                     /db_xref="HGNC:HGNC:6878"
                     /db_xref="MIM:176949"
ORIGIN      
        1 maekgdcias vygydlggrf vdfqplgfgv nglvlsavds racrkvavkk ialsdarsmk
       61 halreikiir rldhdnivkv yevlgpkgtd lqgelfkfsv ayivqeymet dlarlleqgt
      121 laeehaklfm yqllrglkyi hsanvlhrdl kpanifiste dlvlkigdfg larivdqhys
      181 hkgylseglv tkwyrsprll lspnnytkai dmwaagcila emltgrmlfa gaheleqmql
      241 iletipvire edkdellrvm psfvsstwev krplrkllpe vnseaidfle kiltfnpmdr
      301 ltaemglqhp ymspyscped eptsqhpfri edeiddivlm aanqsqlsnw dtcssrypvs
      361 lssdlewrpd rcqdasevqr dpragsapla edvqvdprkd shssserfle qshssmeraf
      421 eadygrscdy kvgspsyldk llwrdnkphh ysepklildl shwkqaagap ptatgladtg
      481 aredepaslf leiaqwvkst qggpehaspp addperrlsa sppgrpapvd ggaspqfdld
      541 vfisralklc tkpedlpdnk lgdlngacip ehpgdlvqte afskerw
//
LOCUS       XP_011509099             491 aa            linear   PRI 20-MAR-2023
DEFINITION  prolyl endopeptidase FAP isoform X2 [Homo sapiens].
ACCESSION   XP_011509099
VERSION     XP_011509099.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011510797.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..491
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..491
                     /product="prolyl endopeptidase FAP isoform X2"
                     /calculated_mol_wt=56878
     Region          106..473
                     /region_name="DPPIV_N"
                     /note="Dipeptidyl peptidase IV (DPP IV) N-terminal region;
                     pfam00930"
                     /db_xref="CDD:395744"
     CDS             1..491
                     /gene="FAP"
                     /gene_synonym="DPPIV; FAPA; FAPalpha; SIMP"
                     /coded_by="XM_011510797.4:119..1594"
                     /db_xref="GeneID:2191"
                     /db_xref="HGNC:HGNC:3590"
                     /db_xref="MIM:600403"
ORIGIN      
        1 mktwvkivfg vatsavlall vmcivlrpsr vhnseentmr altlkdilng tfsyktffpn
       61 wisgqeylhq sadnnivlyn ietgqsytil snrtmksvna snyglspdrq fvylesdysk
      121 lwrysytaty yiydlsngef vrgnelprpi qylcwspvgs klayvyqnni ylkqrpgdpp
      181 fqitfngren kifngipdwv yeeemlatky alwwspngkf layaefndtd ipviaysyyg
      241 deqyprtini pypkagaknp vvrifiidtt ypayvgpqev pvpamiassd yyfswltwvt
      301 dervclqwlk rvqnvsvlsi cdfredwqtw dcpktqehie esrtgwaggf fvstpvfsyd
      361 aisyykifsd kdgykhihyi kdtvenaiqi tsgkweaini frvtqdslfy ssnefeeypg
      421 rrniyrisig syppskkcvt chlrkercqy ytasfsdyak yyalvcygpg ipistlhdgr
      481 tdqatshcch v
//
LOCUS       XP_016859096            1207 aa            linear   PRI 20-MAR-2023
DEFINITION  myelin transcription factor 1-like protein isoform X3 [Homo
            sapiens].
ACCESSION   XP_016859096
VERSION     XP_016859096.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017003607.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1207
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1207
                     /product="myelin transcription factor 1-like protein
                     isoform X3"
                     /calculated_mol_wt=135013
     Region          30..58
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          503..529
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          547..575
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          622..870
                     /region_name="MYT1"
                     /note="Myelin transcription factor 1; pfam08474"
                     /db_xref="CDD:430017"
     Region          879..907
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          923..951
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          972..1000
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          1025..1053
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          <1052..1206
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1207
                     /gene="MYT1L"
                     /gene_synonym="MRD39; myT1-L; NZF1; ZC2H2C2; ZC2HC4B"
                     /coded_by="XM_017003607.3:879..4502"
                     /db_xref="GeneID:23040"
                     /db_xref="HGNC:HGNC:7623"
                     /db_xref="MIM:613084"
ORIGIN      
        1 mevdteekrh rtrskgvrvp vepaiqelfs cptpgcdgsg hvsgkyarhr svygcplakk
       61 rktqdkqpqe papkrkpfav kadsssvdec ddsdgtedmd ekeedegeey sedndepgde
      121 deedeegdre eeeeieeede dddedgedve deeeeeeeee eeeeeeened hqmnchntri
      181 mqdtekddnn ndeydnydel vaksllnlgk iaedaayrar tesemnsnts nsleddsdkn
      241 enlgrksels ldldsdvvre tvdslkllaq ghgvvlsenm ndrnyadsms qqdsrnmnyv
      301 mlgkpmnngl mekmveesde evclsslecl rnqcfdlark lsetnpqern pqqnmnirqh
      361 vrpeedfpgr tpdrnysdml nlmrleeqls prsrvfasca kedgcherdd dttsvnsdrs
      421 eevfdmtkgn ltllekaial eterakamre kmameagrrd nmrsyedqsp rqlpgedrkp
      481 kssdshvkkp yydpsrtekk eskcptpgcd gtghvtglyp hhrslsgcph kdrvppeila
      541 mhesvlkcpt pgctgrghvn snrnshrsls gcpiaaaekl akaqekhqsc dvskssqasd
      601 rvlrpmcfvk qleipqygyr nnvptttprs nlakelekys ktsfeynsyd nhtygkraia
      661 pkvqtrdisp kgyddakryc kdpspsssst ssyapssssn lscgggssas stcskssfdy
      721 thdmeaahma atailnlstr crempqnlst kpqdlcatrn pdmevdengt ldlsmnkqrp
      781 rdsccpiltp lepmspqqqa vmnnrcfqlg egdcwdlpvd ytkmkprrid edeskditpe
      841 dldpfqeale errypgevti pspkpkypqc keskkdlitc ptpgcdgsgh vtgnyashrs
      901 lsgcpladks irsmlatssq elkcptpgcd gsghitgnya shrslsgcpr akksgiriaq
      961 skedkedqep ircpvpgcdg qghitgkyas hrsasgcpla akrqkdgyln gsqfswksvk
     1021 tegmscptpg cdgsghvsgs flthrslsgc pratsamkka klsgeqmlti kqrasngien
     1081 deeikqldee ikelnesnsq meadmiklrt qvtittmesn lktieeenkv ieqqnesllh
     1141 elanlsqsli hslaniqlph mdpineqnfd ayvttltemy tnqdryqspe nkallenikq
     1201 avrgiqv
//
LOCUS       XP_047300854             384 aa            linear   PRI 20-MAR-2023
DEFINITION  threonine synthase-like 2 isoform X8 [Homo sapiens].
ACCESSION   XP_047300854
VERSION     XP_047300854.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444898.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..384
                     /product="threonine synthase-like 2 isoform X8"
                     /calculated_mol_wt=42587
     Region          2..>359
                     /region_name="Thr-synth_2"
                     /note="Threonine synthase catalyzes the final step of
                     threonine biosynthesis. The conversion of
                     O-phosphohomoserine into threonine and inorganic phosphate
                     is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD
                     includes members from higher plants, cyanobacteria;
                     cd01560"
                     /db_xref="CDD:107203"
     Site            113
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:107203"
     CDS             1..384
                     /gene="THNSL2"
                     /gene_synonym="SOFAT; THS2; TSH2"
                     /coded_by="XM_047444898.1:124..1278"
                     /db_xref="GeneID:55258"
                     /db_xref="HGNC:HGNC:25602"
                     /db_xref="MIM:611261"
ORIGIN      
        1 mwyvstrgva prvnfegalf sgyapdgglf mpeelpqldr gtlcqwstls ypglvkelca
       61 lfigsellpk delndlidra fsrfrhrevv hlsrlrngln vlelwhgvty afkdlslsct
      121 tqflqyflek rekhvtvvvg tsgdtgsaai esvqgaknmd iivllpkghc tkiqelqmtt
      181 vlkqnvhvfg vegnsdelde piktvfadva fvkkhnlmsl nsinwsrvlv qmahhffayf
      241 qctpsldthp lplvevvvpt gaagnlaagy iaqkiglpir lvvavnrndi ihrtvqqgdf
      301 slseavkstl asamdiqvpy nmervfwlls gsdsqvtral meqfertqsv nlpkelhskh
      361 spvlprpclc sqvpgscpgc wpdp
//
LOCUS       XP_006712172             589 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor 7-like 1 isoform X1 [Homo sapiens].
ACCESSION   XP_006712172
VERSION     XP_006712172.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006712109.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..589
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..589
                     /product="transcription factor 7-like 1 isoform X1"
                     /calculated_mol_wt=62571
     Region          30..251
                     /region_name="CTNNB1_binding"
                     /note="N-terminal CTNNB1 binding; pfam08347"
                     /db_xref="CDD:429937"
     Region          346..421
                     /region_name="HMG-box_TCF7-like"
                     /note="high mobility group (HMG)-box found in the
                     transcription factor 7 (TCF-7)-like family; cd21996"
                     /db_xref="CDD:438812"
     CDS             1..589
                     /gene="TCF7L1"
                     /gene_synonym="TCF-3; TCF3"
                     /coded_by="XM_006712109.3:294..2063"
                     /db_xref="GeneID:83439"
                     /db_xref="HGNC:HGNC:11640"
                     /db_xref="MIM:604652"
ORIGIN      
        1 mpqlgggggg ggggsggggg ssagaagggd dlgandelip fqdeggeeqe pssdsasaqr
       61 dldevksslv nesenqssss dseaerrpqp vrdtfqkprd yfaevrrpqd saffkgppyp
      121 gypflmipdl sspylsngpl spggartylq mkwplldvps satvkdtrsp spahlsnkvp
      181 vvqhphhmhp ltplitysnd hfspgsppth lspeidpkta giprpphpse lspyyplspg
      241 avgqiphplg wlvpqqgqpm yslppggfrh pypalamnas msslvssrfs phmvapahpg
      301 lptsgiphpa ivspivkqep appslspavs vkspvtvkke eekkphvkkp lnafmlymke
      361 mrakvvaect lkesaainqi lgrkwhnlsr eeqakyyela rkerqlhsql yptwsardny
      421 gkkkkrkrek qlsqtqsqqq vqeaegalas kskkpcvqyl ppekpcdspa sshgsmldsp
      481 atpsaalasp aapaathseq aqplslttkp etraqlalhs aaflsakaaa sssgqmgsqp
      541 pllsrplplg smptallasp psfpatlhah qalpvlqaqp lslvtksah
//
LOCUS       XP_006712896             426 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 74B isoform X2 [Homo
            sapiens].
ACCESSION   XP_006712896
VERSION     XP_006712896.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006712833.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..426
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..426
                     /product="coiled-coil domain-containing protein 74B
                     isoform X2"
                     /calculated_mol_wt=46419
     Region          47..>84
                     /region_name="CCDC92"
                     /note="Coiled-coil domain of unknown function; pfam14916"
                     /db_xref="CDD:434311"
     Region          308..423
                     /region_name="CCDC74_C"
                     /note="Coiled coil protein 74, C terminal; pfam14917"
                     /db_xref="CDD:434312"
     CDS             1..426
                     /gene="CCDC74B"
                     /coded_by="XM_006712833.3:117..1397"
                     /db_xref="GeneID:91409"
                     /db_xref="HGNC:HGNC:25267"
ORIGIN      
        1 msgagvaagt rppssptpgs rrrrqrpsvg vqslrpqspq lrqsdpqkrn ldlekslqfl
       61 qqqhsemlak lheeiehlkr enkgepargp rpalppqahs tlplpqhrnt ainsstrlgs
      121 ggtqddlryk limnqtsqkk dgpsgnhlsr asaplgarwv cingvwvepg gpsparlkeg
      181 ssrthrpggk hgrlaggsad tvrspadsls tssfqsvksi snsansqgka rpqpgsfnkq
      241 dskadvpqka dleeepllhn skldkvpgvq gqarkekaea snagaacmgn sqhqgrqmga
      301 aahppmilpl plrkpttlrq cevlirelwn tnllqtqelq hlksllegsq rpqavpeeas
      361 fprdqeathf pkvstkslsk kclllsppva erailpalkq tpknnfaerq krlqamqkrr
      421 lhrsvl
//
LOCUS       XP_047296157            1206 aa            linear   PRI 20-MAR-2023
DEFINITION  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4
            isoform X1 [Homo sapiens].
ACCESSION   XP_047296157
VERSION     XP_047296157.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440201.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1206
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..1206
                     /product="1-phosphatidylinositol 4,5-bisphosphate
                     phosphodiesterase beta-4 isoform X1"
                     /calculated_mol_wt=137357
     Region          17..143
                     /region_name="PH_PLC_beta"
                     /note="Phospholipase C-beta (PLC-beta) pleckstrin homology
                     (PH) domain; cd13361"
                     /db_xref="CDD:270167"
     Site            order(22,24,36,53,117)
                     /site_type="other"
                     /note="Rac1 binding site [polypeptide binding]"
                     /db_xref="CDD:270167"
     Site            order(25,27,33,35,37,52..53)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270167"
     Region          148..300
                     /region_name="EFh_PI-PLCbeta4"
                     /note="EF-hand motif found in phosphoinositide
                     phospholipase C beta 4 (PI-PLC-beta4); cd16211"
                     /db_xref="CDD:320041"
     Region          148..177
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320041"
     Region          183..212
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320041"
     Region          221..250
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320041"
     Region          267..300
                     /region_name="EF-hand motif"
                     /note="EF-hand motif [structural motif]"
                     /db_xref="CDD:320041"
     Region          312..680
                     /region_name="PI-PLCc_beta"
                     /note="Catalytic domain of metazoan
                     phosphoinositide-specific phospholipase C-beta; cd08591"
                     /db_xref="CDD:176533"
     Site            order(328..329,358,360,375,409,461,463,606,633,635)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:176533"
     Site            order(328,375)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:176533"
     Site            order(329,358,360,409)
                     /site_type="other"
                     /note="Ca binding site [ion binding]"
                     /db_xref="CDD:176533"
     Region          714..830
                     /region_name="C2_PLC_like"
                     /note="C2 domain present in Phosphoinositide-specific
                     phospholipases C (PLC); cd00275"
                     /db_xref="CDD:175974"
     Site            order(731,757,788,790,792,794)
                     /site_type="other"
                     /note="Ca2+ binding pocket [ion binding]"
                     /db_xref="CDD:175974"
     Region          <859..1206
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          926..967
                     /region_name="DUF1154"
                     /note="Protein of unknown function (DUF1154); pfam06631"
                     /db_xref="CDD:429045"
     CDS             1..1206
                     /gene="PLCB4"
                     /gene_synonym="ARCND2; PI-PLC"
                     /coded_by="XM_047440201.1:35..3655"
                     /db_xref="GeneID:5332"
                     /db_xref="HGNC:HGNC:9059"
                     /db_xref="MIM:600810"
ORIGIN      
        1 makpyefnwq kevpsflqeg avfdryeees fvfepnclfk vdefgffltw rsegkegqvl
       61 ecslinsirs gaipkdpkil aaleavgkse ndlegrivcv csgtdlvnis ftymvaenpe
      121 vtkqwveglr siihnfrann vspmtclkkh wmklafmtnt ngkipvrsit rtfasgktek
      181 vifqalkelg lpsgkndeie ptafsyekfy eltqkicprt diedlfkkin gdktdyltvd
      241 qlvsflnehq rdprlneilf pfydakramq iiemyepded lkkkglissd gfcrylmsde
      301 napvfldrle lyqemdhpla hyfissshnt yltgrqfggk ssvemyrqvl lagcrcveld
      361 cwdgkgedqe piithgkamc tdilfkdviq aiketafvts eypvilsfen hcskyqqykm
      421 skycedlfgd lllkqalesh plepgralps pndlkrkili knkrlkpeve kkqlealrsm
      481 meagesaspa nileddneee iesadqeeea hpefkfgnel saddlghkea vansvkkasd
      541 dlehennkkg lvtvedeqaw masykyvgat tnihpylstm inyaqpvkfq gfhvaeerni
      601 hynmssfnes vglgylktha iefvnynkrq msriypkggr vdssnympqi fwnagcqmvs
      661 lnyqtpdlam qlnqgkfeyn gscgyllkpd fmrrpdrtfd pfsetpvdgv iaatcsvqvi
      721 sgqflsdkki gtyvevdmyg lptdtirkef rtrmvmnngl npvyneesfv frkvilpdla
      781 vlriavyddn nkligqrilp ldglqagyrh islrnegnkp lslptifcni vlktyvpdgf
      841 gdivdalsdp kkflsitekr adqmramgie tsdiadvpsd tskndkkgka ntakanvtpq
      901 ssselrpttt aalasgveak kgielipqvr iedlkqmkay lkhlkkqqke lnslkkkhak
      961 ehstmqklhc tqvdkivaqy dkekstheki lekamkkkgg snclemkket eikiqtltsd
     1021 hkskvkeiva qhtkewsemi nthsaeeqei rdlhlsqqce llkkllinah eqqtqqlkls
     1081 hdreskemra hqakismens kaisqdksik nkaererrvr elnssntkkf leerkrlamk
     1141 qskemdqlkk vqlehlefle kqneqllksc havsqtqgeg daadgeigsr dgpqtsnssm
     1201 klqnan
//
LOCUS       XP_006713758             877 aa            linear   PRI 20-MAR-2023
DEFINITION  intraflagellar transport protein 122 homolog isoform X9 [Homo
            sapiens].
ACCESSION   XP_006713758
VERSION     XP_006713758.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006713695.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..877
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..877
                     /product="intraflagellar transport protein 122 homolog
                     isoform X9"
                     /calculated_mol_wt=99327
     Region          <15..190
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          15..51
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          57..91
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          96..128
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          136..172
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          223..273
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          283..316
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          285..>351
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Region          324..350
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..877
                     /gene="IFT122"
                     /gene_synonym="CED; CED1; CFAP80; FAP80; SPG; WDR10;
                     WDR10p; WDR140"
                     /coded_by="XM_006713695.4:108..2741"
                     /db_xref="GeneID:55764"
                     /db_xref="HGNC:HGNC:13556"
                     /db_xref="MIM:606045"
ORIGIN      
        1 mravltwrdk aehcindiaf kpdgtqlila agsrllvydt sdgtllqplk ghkdtvycva
       61 yakdgkrfas gsadksviiw tsklegilky thndaiqcvs ynpithqlas csssdfglws
      121 peqksvskhk ssskiiccsw tndgqylalg mfngiisirn kngeekvkie rpggslspiw
      181 sicwnpssrw esfwmnrene daedvivnry iqeipstlks avyssqgsea eeeepeeedd
      241 sprddnleer ndilavadwg qkvsfyqlsg kqigkdraln fdpccisyft kgeyillggs
      301 dkqvslftkd gvrlgtvgeq nswvwtcqak pdsnyvvvgc qdgtisfyql ifstvhglyk
      361 dryayrdsmt dvivqhlite qkvrikckel vkkiaiyrnr laiqlpekil iyelysedls
      421 dmhyrvkeki ikkfecnllv vcanhiilcq ekrlqclsfs gvkerewqme sliryikvig
      481 gppgregllv glkngqilki fvdnlfaivl lkqatavrcl dmsasrkkla vvdendtclv
      541 ydidtkellf qepnansvaw ntqcedmlcf sgggylnika stfpvhrqkl qgfvvgyngs
      601 kifclhvfsi savevpqsap myqyldrklf keayqiaclg vtdtdwrela mealegldfe
      661 takkafirvq dlryleliss ieerkkrget nndlfladvf syqgkfheaa klykrsghen
      721 lalemytdlc mfeyakdflg sgdpketkml itkqadwarn ikepkaavem yisagehvka
      781 ieicgdhgwv dmlidiarkl dkaereplll catylkklds pgyaaetylk mgdlkslvql
      841 hvetqrwder npsprglgav prsspdspth pswsile
//
LOCUS       XP_011530074            1344 aa            linear   PRI 20-MAR-2023
DEFINITION  palladin isoform X6 [Homo sapiens].
ACCESSION   XP_011530074
VERSION     XP_011530074.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011531772.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1344
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1344
                     /product="palladin isoform X6"
                     /calculated_mol_wt=145537
     Region          338..429
                     /region_name="IgI_2_Titin_Z1z2-like"
                     /note="Second Ig-like domain of the giant muscle protein
                     titin Z1z2 in the sarcomeric Z-disk, and similar domains;
                     a member of the I-set of IgSF domains; cd20972"
                     /db_xref="CDD:409564"
     Region          338..341
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409564"
     Region          344..348
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409564"
     Region          356..364
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409564"
     Region          369..374
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409564"
     Region          377..379
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409564"
     Region          385..390
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409564"
     Region          394..399
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409564"
     Region          408..416
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409564"
     Region          419..429
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409564"
     Region          508..606
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          526..530
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          539..543
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          572..576
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          586..591
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          599..602
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          <989..1053
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          993..996
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1019..1023
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1033..1038
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1046..1049
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1096..1186
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          1113..1117
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1126..1130
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1152..1156
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1166..1171
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1179..1182
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1195..1286
                     /region_name="IgI_Myotilin_C"
                     /note="C-terminal immunoglobulin (Ig)-like domain of
                     myotilin; member of the I-set of Ig superfamily (IgSF)
                     domains; cd05892"
                     /db_xref="CDD:409473"
     Region          1195..1198
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409473"
     Region          1201..1206
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409473"
     Region          1211..1218
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409473"
     Region          1225..1231
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409473"
     Region          1232..1235
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409473"
     Region          1242..1248
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409473"
     Region          1251..1261
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409473"
     Region          1265..1273
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409473"
     Region          1275..1286
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409473"
     CDS             1..1344
                     /gene="PALLD"
                     /gene_synonym="CGI-151; CGI151; MYN; PNCA1; SIH002"
                     /coded_by="XM_011531772.3:361..4395"
                     /db_xref="GeneID:23022"
                     /db_xref="HGNC:HGNC:17068"
                     /db_xref="MIM:608092"
ORIGIN      
        1 mcappgllhk pshgppycqs clplslplsr iqtaisylsk itqfqktvss asglptesrh
       61 rvhedrsnms gtsshesfyd slsdmqeesk ntdffpglsa flsqeeinks ldlarraiad
      121 setedfdsek eisqifstsp aslcehpshk etklgehasr rpqdnrstpv qplaekqtks
      181 isspvskrkp amsplltrps yirslrkaek rgaktpstnv kpktphqrkg gpqsqlcdka
      241 anlieeltsi fkaakprnrs pngessspds gylspknqps allsasasqs pmedqgemer
      301 evkspgarhc yqdnqdlavp hnrkshpqph salhfpaapr fiqklrsqev aegsrvylec
      361 rvtgnptprv rwfcegkelh ntpdiqihce ggdlhtliia eafeddtgry tclatnpsgs
      421 dttsaevfie gasstdsdse slafksraga mpqaqkktts vsltigsssp ktgvttaviq
      481 plsvpvqqvh sptsylcrpd gtttayfppv ftkelqntav aegqvvvlec rvrgapplqv
      541 qwfrqgseiq dspdfrilqk kprstaepee ictlviaetf pedagiftcs arndygsats
      601 taqlvvtsan tencsyesmg esnndhfqhf pppppilets slelaskkps eiqqvnnpel
      661 glsraalqmq fnaaeretng vhpsrgvngl ingkansnks lptpavllsp tkepppllak
      721 pkldplklqq lqnqirleqe agarqpppap rsappsppfp pppafpelaa ctppaspepm
      781 salasrsapa mqssgsfnya rpkqfiaaqn lgpasghgtp asspsssslp spmsptprqf
      841 grapvppfaq pfgaepeapw gssspspppp pppvfsptaa fpvpdvfplp ppppplpspg
      901 qashcsspat rfghsqtpaa flsallpsqp ppaavnalgl pkgvtpagfp kkasrtaria
      961 sdeeiqgtkd aviqdlerkl rfkedllnng qpiywfkdgk qispksdhyt iqrdldgtcs
     1021 lhttastldd dgnytimaan pqgrisctgr lmvqavnqrg rsprspsghp hvrrprsrsr
     1081 dsgdenepiq erffrphflq apgdltvqeg klcrmdckvs glptpdlswq ldgkpvrpds
     1141 ahkmlvreng vhsliiepvt srdagiytci atnragqnsf slelvvaake ahkppvfiek
     1201 lqntgvadgy pvrlecrvlg vpppqifwkk eneslthstd rvsmhqdnhg yiclliqgat
     1261 kedagwytvs akneagivsc tarldvytqw hqqsqstkpk kvrpsasrya alsdqgldik
     1321 aafqpeanps hltlntalve sedl
//
LOCUS       XP_047305859            1637 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 131-like isoform X7 [Homo sapiens].
ACCESSION   XP_047305859
VERSION     XP_047305859.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449903.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1637
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1637
                     /product="transmembrane protein 131-like isoform X7"
                     /calculated_mol_wt=182341
     Region          120..203
                     /region_name="ASH"
                     /note="Abnormal spindle-like microcephaly-assoc'd,
                     ASPM-SPD-2-Hydin; cl13764"
                     /db_xref="CDD:449188"
     Region          214..1637
                     /region_name="TMEM131_like"
                     /note="Transmembrane protein 131-like; pfam19532"
                     /db_xref="CDD:437364"
     CDS             1..1637
                     /gene="TMEM131L"
                     /gene_synonym="KIAA0922"
                     /coded_by="XM_047449903.1:547..5460"
                     /db_xref="GeneID:23240"
                     /db_xref="HGNC:HGNC:29146"
                     /db_xref="MIM:616243"
ORIGIN      
        1 mlglrspecl vgclhshfvp ppparaprac lhavafaseg ppahtppivf lslarpwdgl
       61 csqeeketcf aieplpnvve lwqaeegell lptqgdseeg leepsqeqsf sdklfsgkgl
      121 hfqpsvldfg iqflghpvak ilhaynpsrd sevvvnsvfa aaghfhvppv pcrvipamgk
      181 tsfriiflpt eegsiesslf intssygvls yhvsgigtrr istegsakql pnayfllpkv
      241 qsiqlsqmqa ettntsllqv qlecslhnkv cqqlkgcyle sddvlrlqms imvtmenfsk
      301 efeentqhll dhlsivyvat desetsddsa vnmyilhsgn sliwiqdirh fsqrdalslq
      361 fepvllptst tnftkiasft ckatscdsgi iedvkkttht ptlkaclfss vaqgyfrmds
      421 satqfhieth entsglwsiw yrnhfdrsvv lndvflsket khmlkilnft gplflppgcw
      481 nifslklavk diainlftnv flttnigaif aiplqiysap tkegslgfev iahcgmhyfm
      541 gkskagnpnw ngslsldqst wnvdselank lyerwkkykn gdvckrnvlg ttrfahlkks
      601 kesesfvffl prliaepglm lnfsatalrs rmikyfvvqn psswpvslql lplslypkpe
      661 alvhllhrwf gtdmqminft tgefqlteac pylgthsees rfgilhlhlq plemkrvgvv
      721 ftpadygkvt slilirnnlt vidmigvegf garellkvgg rlpgaggslr fkvpestlmd
      781 crrqlkdskq ilsitknfkv enigplpitv sslkingync qgygfevldc hqfsldpnts
      841 rdisivftpd ftsswvirdl slvtaadlef rftlnvtlph hllplcadvv pgpsweesfw
      901 rltvffvsls llgviliafq qaqyilmefm ktrqrqnass ssqqnngpmd visphsyksn
      961 cknfldtygp sdkgrgkncl pvntpqsriq naakrspaty ghsqkkhkcs vyyskhktst
     1021 aaasststtt eekqtsplgs slpaakedic tdamrenwis lryasginvn lqknltlpkn
     1081 llnkeentlk ntivfsnpss ecsmkegiqt cmfpketdik tsentaefke relcplktsk
     1141 klpenhlprn spqyhqpdlp eisrknngnn qqvpvknevd hcenlkkvdt kpssekkihk
     1201 tsredmfsek qdipfveqed pyrkkklqek regnlqnlnw sksrtcrknk krgvapvsrp
     1261 peqsdlklvc sdferselss dinvrswciq estrevckad aeiasslpaa qreagyyqkp
     1321 ekkcvdkfcs dsssdcgsss gsvrasrgsw gswsstsssd gdkkpmvdaq hflpagdsvs
     1381 qndfpseapi slnlshnicn pmtvnslpqy aepscpslpa gptgveedkg lyspgdlwpt
     1441 ppvcvtssln ctlengvpcv iqesapvhns fidwsatceg qfssaycple lndynafpee
     1501 nmnyangfpc padvqtdfid hnsqstwntp pnmpaawgha sfissppylt strslspmsg
     1561 lfgsiwapqs dvyenccpin pttehsthme nqavvckeyy pgfnpfraym nldiwtttan
     1621 rnanfplsrd ssycgnv
//
LOCUS       XP_047271718             441 aa            linear   PRI 20-MAR-2023
DEFINITION  O-phosphoseryl-tRNA(Sec) selenium transferase isoform X3 [Homo
            sapiens].
ACCESSION   XP_047271718
VERSION     XP_047271718.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047415762.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..441
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..441
                     /product="O-phosphoseryl-tRNA(Sec) selenium transferase
                     isoform X3"
                     /calculated_mol_wt=48705
     Region          1..398
                     /region_name="selenium_SpcS"
                     /note="O-phosphoseryl-tRNA(Sec) selenium transferase;
                     TIGR03531"
                     /db_xref="CDD:211833"
     Site            224
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:99742"
     CDS             1..441
                     /gene="SEPSECS"
                     /gene_synonym="LP; PCH2D; SecS; SLA; SLA-p35; SLA/LP"
                     /coded_by="XM_047415762.1:105..1430"
                     /db_xref="GeneID:51091"
                     /db_xref="HGNC:HGNC:30605"
                     /db_xref="MIM:613009"
ORIGIN      
        1 mdsnnflgnc gvgeregrva salvarrhyr fihgigrsgd isavqpkaag ssllnkitns
       61 lvldiiklag vhtvancfvv pmatgmsltl cfltlrhkrp kakyiiwpri dqkscfksmi
      121 tagfepvvie nvlegdelrt dlkaveakvq elgpdcilci hsttscfapr vpdrleelav
      181 icanydiphi vnnaygvqss kcmhliqqga rvgridafvq sldknfmvpv ggaiiagfnd
      241 sfiqeiskmy pgrasaspsl dvlitllslg sngykkllke rkemfsylsn qikklseayn
      301 erllhtphnp islamtlktl dehrdkavtq lgsmlftrqv sgarvvplgs mqtvsgytfr
      361 gfmshtnnyp caylnaasai gmkmqdvdlf ikrldrclka vrkerskesd dnydktedvd
      421 ieemalkldn vlldtyqdas s
//
LOCUS       XP_047272854             467 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 125 isoform X9 [Homo
            sapiens].
ACCESSION   XP_047272854
VERSION     XP_047272854.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416898.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..467
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..467
                     /product="coiled-coil domain-containing protein 125
                     isoform X9"
                     /calculated_mol_wt=53819
     Region          <110..>227
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..467
                     /gene="CCDC125"
                     /gene_synonym="KENAE"
                     /coded_by="XM_047416898.1:194..1597"
                     /db_xref="GeneID:202243"
                     /db_xref="HGNC:HGNC:28924"
                     /db_xref="MIM:613781"
ORIGIN      
        1 mskvarssse sdvqlwetee ddmtegdlgy glgrkpggiy eiefshrsrk rsdgknfspp
       61 pfprkgeern easfqyskhk sqqdtfpqvs risnyrrqss tdsnselsne elrqclnetl
      121 eevemlktel easqrqlrgk eealkilqsm ailgkatsht qavlqktmeq nrslekeina
      181 lqweiefdhn rfknieeswi qkydrlncen avlkenlkvk teeikmlksd navlnqryle
      241 alamldikqq kmaqenmccd ksgfaeasgl elavlgaclc hgpggnpcsc armaastrkl
      301 llqlkqelei lqkskeeayv madafriafe qqlmrkndqa lqltqmdkmh kkatkwmnwk
      361 hlkedgfpsp rskktfgqrl lgmlpsenss krmedqdspq evlkmlidll ndkeealahq
      421 rkvsymlara ledkdtasne nkeknpiken fpfnnpwrwr tdilngy
//
LOCUS       XP_047276588             769 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 12 member 9 isoform X4 [Homo sapiens].
ACCESSION   XP_047276588
VERSION     XP_047276588.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420632.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..769
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..769
                     /product="solute carrier family 12 member 9 isoform X4"
                     /calculated_mol_wt=81460
     Region          <84..760
                     /region_name="AA_permease_2"
                     /note="Amino acid permease; cl45918"
                     /db_xref="CDD:459263"
     CDS             1..769
                     /gene="SLC12A9"
                     /gene_synonym="CCC6; CIP1; hCCC6; WO3.3"
                     /coded_by="XM_047420632.1:610..2919"
                     /db_xref="GeneID:56996"
                     /db_xref="HGNC:HGNC:17435"
                     /db_xref="MIM:616861"
ORIGIN      
        1 mqvsdatgps glrvlpqgyg wnllygslll glvggvctlg aglyarasfl tfllvsgsla
       61 svlisfvavg prdirltprp gpngsslppr fghftgfnss tlkdnlgagy aedyttgavm
      121 nfasvfavlf ngctgimaga nmsgelkdps raiplgtiva vaytffvyvl lfflssftcd
      181 rtllqedygf fraislwppl vligiyatal sasmssliga srilhalard dlfgvilapa
      241 kvvsrggnpw aavlyswglv qlvllagkln tlaavvtvfy lvayaavdls clslewasap
      301 nfrptfslfs whtcllgvas cllmmflisp gaaggslllm gllaalltar ggpsswgyvs
      361 qallfhqvrk yllrldvrkd hvkfwrpqll llvgnprgal pllrlanqlk kgglyvlghv
      421 tlgdldslps dpvqpqygaw lslvdraqvk afvdltlsps vrqgaqhllr isglggmkpn
      481 tlvlgfydda ppqdhfltdp afsepadstr egsspalstl fppprapgsp ralnpqdyva
      541 tvadalkmnk nvvlarasga lpperlsrgs ggtsqlhhvd vwplnllrpr ggpgyvdvcg
      601 lfllqmatil gmvpawhsar lriflclgpr eapgaaegrl rallsqlrir aevqevvwge
      661 gagagepeae eegdfvnsgr gdaeaealar sanalvraqq grgtgggpgg peggdaegpi
      721 taltflylpr ppadparypr ylalletltr dlgptllvhg vtpvtctdl
//
LOCUS       XP_016868487             148 aa            linear   PRI 20-MAR-2023
DEFINITION  protein tyrosine phosphatase type IVA 3 isoform X3 [Homo sapiens].
ACCESSION   XP_016868487
VERSION     XP_016868487.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017012998.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..148
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..148
                     /product="protein tyrosine phosphatase type IVA 3 isoform
                     X3"
                     /calculated_mol_wt=16645
     Region          5..133
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     CDS             1..148
                     /gene="PTP4A3"
                     /gene_synonym="PRL-3; PRL-R; PRL3"
                     /coded_by="XM_017012998.3:918..1364"
                     /db_xref="GeneID:11156"
                     /db_xref="HGNC:HGNC:9636"
                     /db_xref="MIM:606449"
ORIGIN      
        1 marmnrpapv evsykhmrfl ithnptnatl stfiedlkky gattvvrvce vtydktplek
       61 dgitvvdwpf ddgapppgkv vedwlslvka kfceapgscv avhcvaglgr krrgainskq
      121 ltylekyrpk qrlrfkdpht hktrccvm
//
LOCUS       XP_024303076             451 aa            linear   PRI 20-MAR-2023
DEFINITION  tripartite motif-containing protein 55 isoform X3 [Homo sapiens].
ACCESSION   XP_024303076
VERSION     XP_024303076.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024447308.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..451
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..451
                     /product="tripartite motif-containing protein 55 isoform
                     X3"
                     /calculated_mol_wt=50563
     Region          21..84
                     /region_name="RING-HC_MuRF2"
                     /note="RING finger, HC subclass, found in muscle-specific
                     RING finger protein 2 (MuRF-2) and similar proteins;
                     cd16760"
                     /db_xref="CDD:438417"
     Region          122..166
                     /region_name="Bbox2_MuRF2_C-II"
                     /note="B-box-type 2 zinc finger found in muscle-specific
                     RING finger protein 2 (MuRF-2) and similar proteins;
                     cd19832"
                     /db_xref="CDD:380890"
     Site            order(124,127,136,139,144,147,153,156)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:380890"
     Region          168..294
                     /region_name="BBC"
                     /note="B-Box C-terminal domain; smart00502"
                     /db_xref="CDD:128778"
     CDS             1..451
                     /gene="TRIM55"
                     /gene_synonym="MURF-2; muRF2; RNF29"
                     /coded_by="XM_024447308.1:141..1496"
                     /db_xref="GeneID:84675"
                     /db_xref="HGNC:HGNC:14215"
                     /db_xref="MIM:606469"
ORIGIN      
        1 msaslnyksf skeqqtmdnl ekqlicpicl emftkpvvil pcqhnlcrkc asdifqasnp
       61 ylptrggttm asggrfrcps crhevvldrh gvyglqrnll veniidiykq estrpekksd
      121 qpmceeheee riniyclnce vptcslckvf gahkdcqvap lthvfqrqks elsdgiailv
      181 gsndrvqgvi sqledtckti eeccrkqkqe lcekfdylyg ileerknemt qvitrtqeek
      241 lehvralikk ysdhlenvsk lvesgiqfmd epemavflqn aktllkkise askafqmeki
      301 ehgyenmnhf tvnlnreeki ireidfyrde deeeeeggeg ekegegevgg eaveveeven
      361 vqtefpgede npekaselsq velqaapgal pvsspepppa lppaadapvt qigfeapplq
      421 gqaaapasgs gadseparhi fsfswlnsln e
//
LOCUS       XP_011542995             423 aa            linear   PRI 20-MAR-2023
DEFINITION  myotubularin-related protein 7 isoform X3 [Homo sapiens].
ACCESSION   XP_011542995
VERSION     XP_011542995.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011544693.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..423
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..423
                     /product="myotubularin-related protein 7 isoform X3"
                     /calculated_mol_wt=48252
     Region          <8..196
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:452893"
     CDS             1..423
                     /gene="MTMR7"
                     /coded_by="XM_011544693.3:856..2127"
                     /db_xref="GeneID:9108"
                     /db_xref="HGNC:HGNC:7454"
                     /db_xref="MIM:603562"
ORIGIN      
        1 meifylnlna manraagkgy enednysnik fqfigienih vmrnslqkml evcelkspsm
       61 sdflwglens gwlrhikaim dagifiakav seegasvlvh csdgwdrtaq vcsvasllld
      121 phyrtlkgfm vliekdwisf ghkfnhrygn ldgdpkeisp vidqfiecvw qlmeqfpcaf
      181 efnerflihi qhhiyscqfg nflcnsqker relkiqerty slwahlwknr adylnplfra
      241 dhsqtqgtlh lpttpcnfmy kfwsgmynrf ekgmqprqsv tdylmavkee tqqleeelea
      301 leerlekiqk vqlnctkvks kqsepskhsg fstsdnsian tpqdysgnmk sfpsrspsqg
      361 dedsaliltq dnlkssdpdl sansdqesgv edlscrspsg gehapsedsg kdrdsdeavf
      421 lta
//
LOCUS       XP_047278494             333 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124902053 [Homo sapiens].
ACCESSION   XP_047278494
VERSION     XP_047278494.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422538.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..333
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..333
                     /product="uncharacterized protein LOC124902053"
                     /calculated_mol_wt=36092
     CDS             1..333
                     /gene="LOC124902053"
                     /coded_by="XM_047422538.1:1..1002"
                     /db_xref="GeneID:124902053"
ORIGIN      
        1 mrtqrkgdgq tgsslpveas mvtpspgysv htgdldghpl prmvsahrrs rwspppqdgq
       61 ctleismvtp spgwsvhtgd ldghplprmv sahrrsrwss ppqdaqctpe ismvtpspgc
      121 svhtgdldgh plprmlsahr rsrwspppqd gqctpeismv tpspgwsvht gdldghplpr
      181 mlsahrrsrw spppqdaqct peismvtpsp gwsvhtgdld ghplprmvsa hrrsrwsppp
      241 qdgqctpeis mvtpspgcsv htgdldghpl prmlsapwrs rwspppqdgq ctpeisivtp
      301 spgcsvhtgd ldghplprml sahrrcgdpt kmr
//
LOCUS       XP_047297887             988 aa            linear   PRI 20-MAR-2023
DEFINITION  IQ motif and SEC7 domain-containing protein 2 isoform X14 [Homo
            sapiens].
ACCESSION   XP_047297887
VERSION     XP_047297887.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047441931.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..988
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..988
                     /product="IQ motif and SEC7 domain-containing protein 2
                     isoform X14"
                     /calculated_mol_wt=108981
     Region          587..775
                     /region_name="Sec7"
                     /note="Sec7 domain; pfam01369"
                     /db_xref="CDD:426226"
     Site            order(678..685,717..730)
                     /site_type="active"
                     /note="active site/putative ARF binding site [active]"
                     /db_xref="CDD:238100"
     Region          797..926
                     /region_name="IQ_SEC7_PH"
                     /note="PH domain; pfam16453"
                     /db_xref="CDD:435346"
     CDS             1..988
                     /gene="IQSEC2"
                     /gene_synonym="BRAG1; IQ-ArfGEF; MRX1; MRX18; MRX78;
                     XLID1"
                     /coded_by="XM_047441931.1:64..3030"
                     /db_xref="GeneID:23096"
                     /db_xref="HGNC:HGNC:29059"
                     /db_xref="MIM:300522"
ORIGIN      
        1 meppgrsssl pfsppaltlt flppsptlpl pslpvslsvs lclllslrst ashtlhqycc
       61 ptqvldsmkl tpsgrlaess vegdapgsdl stavdspgsq ppyrlsqlpp ssshmggppa
      121 gvglpwaqra rlqpasvalr kqeeeeikrs kalsdsyels tdlqdkkvem lerkyggsfl
      181 srraartiqt afrqyrmnkn ferlrssase srmsrriils nmrmqfsfee yekaqnpayf
      241 egkpasldeg amagarshrl erglpyggsc gggidgggss vttsgefsnd iteledsfsk
      301 qvkslaesid ealnchpsgp mseepgsaql ekreskeqqe dssatsfsdl plylddtvpq
      361 qsperlpste pppqgrpefw apaplppvpp pvpsgtredg sreegtrrgp gclecrdfrl
      421 raahlpllti eppsdssvdl sdrsdrgsvh rqlvyeadgc sphgtlkhkg ppgrapiphr
      481 hypapegpap appgplppap nsgtgpsgva ggrrlgkcea agensdggdn eslesssnsn
      541 etincssgss srdslreppa tglckqtyqr etrhswdspa fnndvvqrrh yriglnlfnk
      601 kpekgiqyli ergflsdtpv gvahfilerk glsrqmigef lgnrqkqfnr dvldcvvdem
      661 dfssmdldda lrkfqshirv qgeaqkverl ieafsqrycv cnpalvrqfr npdtifilaf
      721 aiillntdmy spsvkaerkm klddfiknlr gvdngedipr dllvgiyqri qgrelrtndd
      781 hvsqvqaver mivgkkpvls lphrrlvccc qlyevpdpnr pqrlglhqre vflfndllvv
      841 tkifqkkkil vtysfrqsfp lvemhmqlfq nsyyqfgikl lsavpggerk vliifnapsl
      901 qdrlrftsdl resiaevqem ekyrvesele kqkgmmrpna sqpggakdsv ngtmarssle
      961 dtygagdglk rgalssslrd lsdagvcy
//
LOCUS       XP_005262314             278 aa            linear   PRI 20-MAR-2023
DEFINITION  C-X-C chemokine receptor type 3 isoform X4 [Homo sapiens].
ACCESSION   XP_005262314
VERSION     XP_005262314.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005262257.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..278
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..278
                     /product="C-X-C chemokine receptor type 3 isoform X4"
                     /calculated_mol_wt=29602
     Region          83..>219
                     /region_name="7tm_GPCRs"
                     /note="seven-transmembrane G protein-coupled receptor
                     superfamily; cl28897"
                     /db_xref="CDD:452889"
     Region          99..120
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:410628"
     Region          135..157
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:410628"
     Region          180..196
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:410628"
     CDS             1..278
                     /gene="CXCR3"
                     /gene_synonym="CD182; CD183; CKR-L2; CMKAR3; GPR9; IP10-R;
                     Mig-R; MigR"
                     /coded_by="XM_005262257.4:140..976"
                     /db_xref="GeneID:2833"
                     /db_xref="HGNC:HGNC:4540"
                     /db_xref="MIM:300574"
ORIGIN      
        1 mpglahspgs pqgwvsdhqv lndaevaall enfsssydyg enesdsccts ppcpqdfsln
       61 fdraflpaly sllfllgllg ngavaavlls rrtalsstdt fllhlavadt llvltlplwa
      121 vdaavqwvfg sglckvagal fninfyagal llacisfdry lnivhatqly rrgpparvtl
      181 tclavwglcl lfalpdfifl sahhderlna thcqynfpqg sssgsgcgcc scawaaptre
      241 gsrgshrlpa gihpglrpqr pptraceagi raplsptv
//
LOCUS       XP_047298117            1210 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphorylase b kinase regulatory subunit alpha, skeletal muscle
            isoform isoform X2 [Homo sapiens].
ACCESSION   XP_047298117
VERSION     XP_047298117.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047442161.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1210
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1210
                     /product="phosphorylase b kinase regulatory subunit alpha,
                     skeletal muscle isoform isoform X2"
                     /calculated_mol_wt=135678
     Region          8..>439
                     /region_name="Glyco_hydro_15"
                     /note="Glycosyl hydrolases family 15; pfam00723"
                     /db_xref="CDD:395586"
     Region          <804..922
                     /region_name="Glyco_hydro_15"
                     /note="Glycosyl hydrolases family 15; cl42434"
                     /db_xref="CDD:455779"
     Region          933..>1121
                     /region_name="KPBB_C"
                     /note="Phosphorylase b kinase C-terminal domain;
                     pfam19292"
                     /db_xref="CDD:437124"
     CDS             1..1210
                     /gene="PHKA1"
                     /gene_synonym="PHKA"
                     /coded_by="XM_047442161.1:318..3950"
                     /db_xref="GeneID:5255"
                     /db_xref="HGNC:HGNC:8925"
                     /db_xref="MIM:311870"
ORIGIN      
        1 mrsrsnsgvr ldgyarlvqq tilchqnpvt gllpasydqk dawvrdnvys ilavwglgla
       61 yrknadrded kakayeleqs vvklmrgllh cmirqvdkve sfkysqstkd slhakyntkt
      121 catvvgddqw ghlqldatsv yllflaqmta sglhiihsld evnfiqnlvf yieaayktad
      181 fgiwergdkt nqgiselnas svgmakaale aldeldlfgv kggpqsvihv ladevqhcqs
      241 ilnsllpras tskevdasll svvsfpafav edsqlveltk qeiitklqgr ygccrflrdg
      301 yktpkedpnr lyyepaelkl feniecewpl fwtyfildgv fsgnaeqvqe ykealeavli
      361 kgkngvpllp elysvppdrv deeyqnphtv drvpmgklph mwgqslyilg slmaegflap
      421 geidplnrrf stvpkpdvvv qvsilaetee iktilkdkgi yvetiaevyp irvqparils
      481 hiysslgcnn rmklsgrpyr hmgvlgtskl ydirktiftf tpqfidqqqf ylaldnkmiv
      541 emlrtdlsyl csrwrmtgqp titfpishsm ldedgtslns silaalrkmq dgyfggarvq
      601 tgklsefltt sccthlsfmd pgpegklyse dyddnydyle sgnwmndyds tsharcgdev
      661 aryldhllah taphpklapt sqkggldrfq aavqttcdlm slvtkakelh vqnvhmylpt
      721 klfqasrpsf nlldsphprq enqvpsvrve ihlprdqsge vdfkalvlql ketsslqeqa
      781 dilymlytmk gpdwntelyn ersatvrell telygkvgei rhwgliryis gilrkkveal
      841 deactdllsh qkhltvglpp eprektisap lpyealtqli deasegdmsi siltqeimvy
      901 lamymrtqpg lfaemfrlri gliiqvmate lahslrcsae eateglmnls psamknllhh
      961 ilsgkefgve rsvrptdsnv spaisiheig avgatktert gimqlkseik qspgtsmtps
     1021 sgsfpsaydq qsskdsrqgq wqrrrrldga lnrvpvgfyq kvwkvlqkch glsvegfvlp
     1081 ssttremtpg eikfsvhves vlnrvpqpey rqllveailv ltmladieih sigsiiavek
     1141 ivhiandlfl qeqktlgadd tmlakdpasg ictllydsap sgrfgtmtyl skaaatyvqe
     1201 flphsicamq
//
LOCUS       XP_054184469             219 aa            linear   PRI 20-MAR-2023
DEFINITION  HLA class II histocompatibility antigen, DP alpha 1 chain isoform
            X1 [Homo sapiens].
ACCESSION   XP_054184469
VERSION     XP_054184469.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054328494.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167244.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..219
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..219
                     /product="HLA class II histocompatibility antigen, DP
                     alpha 1 chain isoform X1"
                     /calculated_mol_wt=25071
     CDS             1..219
                     /gene="HLA-DPA1"
                     /gene_synonym="DP(W3); DP(W4); DPA1; HLA-DP1A; HLA-DPA;
                     HLA-DPB1; HLADP; HLASB; PLT1"
                     /coded_by="XM_054328494.1:108..767"
                     /db_xref="GeneID:3113"
                     /db_xref="HGNC:HGNC:4938"
                     /db_xref="MIM:142880"
ORIGIN      
        1 mrpedrmfhi ravilralsl afllslrgag aikadhvsty aafvqthrpt gefmfefded
       61 emfyvdldkk etvwhleefg qafsfeaqgg laniailnnn lntliqrsnh tqatndppev
      121 tvfpkepvel gqpntlichi dkffppvlnv twlcngelvt egvaeslflp rtdysfhkfh
      181 yltfvpsaed fydcrvehwg ldqpllkhwg dkiseqkrt
//
LOCUS       XP_054186411            1846 aa            linear   PRI 20-MAR-2023
DEFINITION  mediator of DNA damage checkpoint protein 1 isoform X8 [Homo
            sapiens].
ACCESSION   XP_054186411
VERSION     XP_054186411.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330436.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167245.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1846
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1846
                     /product="mediator of DNA damage checkpoint protein 1
                     isoform X8"
                     /calculated_mol_wt=199906
     CDS             1..1846
                     /gene="MDC1"
                     /gene_synonym="NFBD1"
                     /coded_by="XM_054330436.1:292..5832"
                     /db_xref="GeneID:9656"
                     /db_xref="HGNC:HGNC:21163"
                     /db_xref="MIM:607593"
ORIGIN      
        1 mghptfptcq qfpsrvayfq imedtqaidw dveeeeeteq sseslrcnve pvgrlhifsg
       61 ahgpekdfpl hlgknvvgrm pdcsvalpfp siskqhaeie ilawdkapil rdcgslngtq
      121 ilrppkvlsp gvshrlrdqe lilfadllcq yhrldvslpf vsrgpltvee tprvqgetqp
      181 qrlllaedse eevdflserr mvkksrttss svivpesdee ghspvlgglg ppfafnlnsd
      241 tdveegqqpa teeassaarr gatveakqse aevvteiqle kdqplvkerd ndtkvkrgag
      301 ngvvpagvil ersqppgeds dtdvdddsrp pgrpaevhle raqpfgfids dtdaeeerip
      361 atpvvipmkk rkifhgvgtr gpgapglahl qesqagsdtd veegkapqav pleksqasmv
      421 insdtddeee vsaaltlahl kesqpaiwnr daeedmpqrv vllqrsqttt erdsdtdvee
      481 eelpvenrea vlkdhtkira lvrahsekdq ppfgdsddsv eadksspgih lersqasttv
      541 dintqvekev ppgsaiihik khqvsvegtn qtdvkavggp akllvvslee awplhgdcet
      601 daeegtslta svvadvrksq lpaegdagae waaavlkqer ahevgaqggp pvaqveqdlp
      661 isrenltdlv vdtdtlgest qpqregaqvp tgrereqhvg gtkdsednyg dsedldlqat
      721 qcflenqgle avqsmedept qafmltppqe lgpshcsfqt tgllnckmpp aekasriraa
      781 ekvsrgdqes pdaclpptvp eapappqkpl nsqsqkhlap ppllspllps ikptvrktrq
      841 dgsqeapeap lsselepfhp kpkirtrkss rmtpfpatsa apephpstst aqpvtpkpts
      901 qatrsrtnrs svktpepvvp tapelqpsts tdqpvtsept sqvtrgrksr ssvktpetvv
      961 ptalelqpst stdrpvtsep tsqatrgrkn rssvktpepv vptapelqps tstdqpvtse
     1021 ptyqatrgrk nrssvktpep vvptapelrp ststdrpvtp kptsrttrsr tnmssvktpe
     1081 tvvptapelq iststdqpvt pkptsrttrs rtnmssvknp estvpiapel ppststeqpv
     1141 tpeptsratr grknrssgkt petlvptapk lepststdqp vtpeptsqat rgrtnrssvk
     1201 tpetvvptap elqpststdq pvtpeptsqa trgrtdrssv ktpetvvpta pelqasastd
     1261 qpvtseptsr ttrgrknrss vktpetvvpa apelqpstst dqpvtpepts ratrgrtnrs
     1321 svktpesivp iapelqpsts rnqlvtpept sratrcrtnr ssvktpepvv ptapephptt
     1381 stdqpvtpkl tsratrrktn rssvktpkpv epaasdlepf tptdqsvtpe aiaqggqskt
     1441 lrsstvramp vpttpefqsp vttdqpispe pitqpscikr qraagnpgsl aapidhkpcs
     1501 aplepksqas rnqrwgavra aesltaipep aspqlletpi hasqiqkvep agrsrftpel
     1561 qpkasqsrkr slatmdspph qkqpqrgevs qktviikeee edtaekpgke edvvtpkpgk
     1621 rkrdqaeeep nripsrslrr tklnqestap kvlftgvvda rgeravlalg gslagsaaea
     1681 shlvtdrirr tvkflcalgr gipilsldwl hqsrkagffl ppdeyvvtdp eqeknfgfsl
     1741 qdalsrarer rllegyeiyv tpgvqppppq mgeiisccgg tylpsmprsy kpqrvvitcp
     1801 qdfphcsipl rvglpllspe flltgvlkqe akpeafvlsp lemsst
//
LOCUS       XP_054186496            1498 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-2(XI) chain isoform X3 [Homo sapiens].
ACCESSION   XP_054186496
VERSION     XP_054186496.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330521.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167246.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1498
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1498
                     /product="collagen alpha-2(XI) chain isoform X3"
                     /calculated_mol_wt=145138
     CDS             1..1498
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /coded_by="XM_054330521.1:237..4733"
                     /db_xref="GeneID:1302"
                     /db_xref="HGNC:HGNC:2187"
                     /db_xref="MIM:120290"
ORIGIN      
        1 mtwqaspspg rrpsptagfd paweqpplsr cparraaspt awprprtrgs syrqdptpge
       61 eeeilessll ppleeeqtdl qvpptadrfq aeeygeggtd ppegpydyty gygddyreet
      121 elgpalsaet ahsgaaahgp rglkgekgep avlepgmlve gppgpegpag ligppgiqgn
      181 pgpvgdpger gppgraglpg sdgapgppgt slmlpfrfgs gggdkgpvva aqeaqaqail
      241 qqarlalrgp pgpmgytgrp gplgqpgspg lkgesgdlgp qgprgpqglt gppgkagrrg
      301 ragadgargm pgdpgvkgdr gfdglpglpg ekghrgdtga qglpgppged gergddgeig
      361 prglpgesgp rgllgpkgpp gipgppgvrg mdgpqgpkgs lgpqgepgpp gqqgtpgtqg
      421 lpgpqgaigp hgekgpqgkp glpgmpgsdg ppghpgkegp pgtkgnqgps gpqgplgypg
      481 prgvkgvdgi rglkghkgek gedgfpgfkg digvkgdrge vgvpgsrged gpegpkgrtg
      541 ptgdpgppgl mgekgklgvp glpgypgrqg pkgslgfpgf pgasgekgar glsgksgprg
      601 ergptgprgq rgprgatgks gakgtsggdg phgppgergl pgpqgpngfp gpkgppgppg
      661 kdglpghpgq rgevgfqgkt gppgppgvvg pqgaagetgp mgerghpgpp gppgeqglpg
      721 tagkegtkgd pgppgapgkd gpaglrgfpg erglpgtagg pglkgnegps gppgpagspg
      781 ergaagsggp igppgrpgpq gppgaagekg vpgekgpigp tgrdgvqgpv glpgpagppg
      841 vagedgdkge vgdpgqkgtk gnkgehgppg ppgpigpvgq pgaagadgep gargpqghfg
      901 akgdegtrgf ngppgpiglq glpgpsgekg etgdvgpmgp pgppgprgpa gpngadgpqg
      961 ppggvgnlgp pgekgepges gspgiqgepg vkgprgerge kgesgqpgep gppgpkgptg
     1021 ddgpkgnpgp vgfpgdpgpp geggprgqdg akgdrgedge pgqpgspgpt gengppgplg
     1081 krgpagspgs egrqggkgak gdpgaigapg ktgpvgpagp agkpgpdglr glpgsvgqqg
     1141 rpgatgqagp pgpvgppglp glrgdagakg ekghpgligl igppgeqgek gdrglpgpqg
     1201 spgqkgemgi pgasgpigpg gppglpgpag pkgakgatgp ggpkgekgvq gppghpgppg
     1261 eviqplpiqm pkktrrsvdg srlmqedeai ptggapgspg gleeifgsld slreeieqmr
     1321 rptgtqdspa rtcqdlklch pelpdgeywv dpnqgcarda frvfcnftag getcvtprdd
     1381 vtqfsyvdse gspvgvvqlt flrllsvsah qdvsypcsga ardgplrlrg anedelspet
     1441 spyvkefrdg cqtqqgrtvl evrtpvleql pvldasfsdl gapprrggvl lgpvcfmg
//
LOCUS       XP_054186856            1058 aa            linear   PRI 20-MAR-2023
DEFINITION  large proline-rich protein BAG6 isoform X9 [Homo sapiens].
ACCESSION   XP_054186856
VERSION     XP_054186856.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330881.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167247.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1058
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1058
                     /product="large proline-rich protein BAG6 isoform X9"
                     /calculated_mol_wt=111314
     CDS             1..1058
                     /gene="BAG6"
                     /gene_synonym="BAG-6; BAT3; D6S52E; G3"
                     /coded_by="XM_054330881.1:164..3340"
                     /db_xref="GeneID:7917"
                     /db_xref="HGNC:HGNC:13919"
                     /db_xref="MIM:142590"
ORIGIN      
        1 mepndststa veepdslevl vktldsqtrt fivgaqmnvk efkehiaasv sipsekqrli
       61 yqgrvlqddk klqeynvggk vihlverapp qthlpsgass gtgsasathg ggsppgtrgp
      121 gasvhdrnan syvmvgtfnl pseprvrlvm aqhmirdiqt llsrmecrgg pqpqhsqppp
      181 qppavtpepv alssqtsepv eseapprepm eaeeveerap aqnpeltpgp apagptpape
      241 tnapnhpspa eyvevlqelq rlesrlqpfl qryyevlgaa attdynnnhe greedqrlin
      301 lvgeslrllg ntfvalsdlr cnlactpprh lhvvrpmshy ttpmvlqqaa ipiqinvgtt
      361 vtmtgngtrp pptpnaeapp pgpgqassva psstnvessa egapppgpap ppatshprvi
      421 rishqsvepv vmmhmniqds gtqpggvpsa ptgplgppgh gqtlgqqvpg fptaptrvvi
      481 arptppqarp shpggppvsg tlgaglgtna slaqmvsglv gqllmqpvlv aqgtpgmapp
      541 papatasasa gttntattag papggpaqpp ptpqpsmadl qfsqllgnll gpagpgaggp
      601 gvasptitva mpgvpaflqg mtdflqatqt appppppppp pppapeqqtm pppgspsgga
      661 gspgglgles lspefftsvv qgvlssllgs lgaragsses iaafiqrlsg ssnifepgad
      721 galgffgall sllcqnfsmv dvvmllhghf qplqrlqpql rsffhqhylg gqeptpsnir
      781 mathtlitgl eeyvresfsl vqvqpgvdii rtnleflqeq fnsiaahvlh ctdsgfgarl
      841 lelcnqglfe clalnlhclg gqqmelaavi ngrirrmsrg vnpslvswlt tmmglrlqvv
      901 lehmpvgpda ilryvrrvgd ppqplpeepm evqgaerasp epqrenaspa pgttaeeams
      961 rgpppapegg srdeqdgasa etepwaaavp pewvpiiqqd iqsqrkvkpq pplsdaylsg
     1021 mpakrrklrs diqkrlqedp nyspqrfpna qrafaddp
//
LOCUS       XP_054192386             429 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-12 receptor subunit beta-2 isoform X6 [Homo sapiens].
ACCESSION   XP_054192386
VERSION     XP_054192386.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336411.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..429
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..429
                     /product="interleukin-12 receptor subunit beta-2 isoform
                     X6"
                     /calculated_mol_wt=48045
     CDS             1..429
                     /gene="IL12RB2"
                     /coded_by="XM_054336411.1:228..1517"
                     /db_xref="GeneID:3595"
                     /db_xref="HGNC:HGNC:5972"
                     /db_xref="MIM:601642"
ORIGIN      
        1 mdnilvtwqp prkdpsavqe yvvewrelhp ggdtqvplnw lrsrpynvsa liseniksyi
       61 cyeirvyals gdqggcssil gnskhkapls gphinaitee kgsiliswns ipvqeqmgcl
      121 lhyriywker dsnsqpqlce ipyrvsqnsh pinslqprvt yvlwmtalta agesshgner
      181 efclqgkanw mafvapsici aiimvgifst hyfqqkvfvl laalrpqwcs reipdpanst
      241 cakkypiaee ktqlpldrll idwptpedpe plvisevlhq vtpvfrhppc snwpqrekgi
      301 qghqasekdm mhsasspppp ralqaesrql vdlykvlesr gsdpkpenpa cpwtvlpagd
      361 lpthdgylps niddlpshea pladsleele pqhislsvfp ssslhpltfs cgdkltldql
      421 kmrcdslml
//
LOCUS       XP_054193869             609 aa            linear   PRI 20-MAR-2023
DEFINITION  pogo transposable element with KRAB domain isoform X1 [Homo
            sapiens].
ACCESSION   XP_054193869
VERSION     XP_054193869.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337894.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..609
                     /product="pogo transposable element with KRAB domain
                     isoform X1"
                     /calculated_mol_wt=69313
     CDS             1..609
                     /gene="POGK"
                     /gene_synonym="BASS2; KRBOX2; LST003"
                     /coded_by="XM_054337894.1:656..2485"
                     /db_xref="GeneID:57645"
                     /db_xref="HGNC:HGNC:18800"
                     /db_xref="MIM:620039"
ORIGIN      
        1 mestayplnl slkeeeeeee iqsreledgp admqkvrics eggwvpalfd evaiyfsdee
       61 wevlteqqka lyrevmrmny etvlslefpf pkpdmitrle geeesqnsde wqlqggtsae
      121 neesdvkppd wpnpmnatsq fpqpqhfdsf glrlprdite lpewsegypf ymamgfpgyd
      181 lsaddiagkf qfsrgmrrsy dagfklmvve yaestnncqa akqfgvlekn vrdwrkvkpq
      241 lqnahamrra frgpkngrfa lvdqrvaeyv rymqakgdpi treamqlkal eiaqemnipe
      301 kgfkaslgwc rrmmrrydls lrhkvpvpqh lpedlteklv tyqrsvlalr rahdyevaqm
      361 gnadetpicl evpsrvtvdn qgekpvlvkt pgreklkita mlgvladgrk lppyiilrgt
      421 yippgkfpsg meirchrygw mtedlmqdwl evvwrrrtga vpkqrgmlil ngfrghatds
      481 vknsmesmnt dmviipgglt sqlqvldvvv ykplndsvra qysnwllagn lalsptgnak
      541 kpplglflew vmvawnsiss esivqgfkkc hissnleeed dvlweiesel pgggeppkdc
      601 dtesmaesn
//
LOCUS       XP_054193948            1796 aa            linear   PRI 20-MAR-2023
DEFINITION  receptor-type tyrosine-protein phosphatase F isoform X17 [Homo
            sapiens].
ACCESSION   XP_054193948
VERSION     XP_054193948.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337973.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1796
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1796
                     /product="receptor-type tyrosine-protein phosphatase F
                     isoform X17"
                     /calculated_mol_wt=200373
     CDS             1..1796
                     /gene="PTPRF"
                     /gene_synonym="BNAH2; LAR"
                     /coded_by="XM_054337973.1:334..5724"
                     /db_xref="GeneID:5792"
                     /db_xref="HGNC:HGNC:9670"
                     /db_xref="MIM:179590"
ORIGIN      
        1 mapepapgrt mvplvpalvm lglvagahgd skpvfikvpe dqtglsggva sfvcqatgep
       61 kpritwmkkg kkvssqrfev iefddgagsv lriqplrvqr deaiyectat nslgeintsa
      121 klsvleeeql ppgfpsidmg pqlkvvekar tatmlcaagg npdpeiswfk dflpvdpats
      181 ngrikqlrsg alqiessees dqgkyecvat nsagtrysap anlyvrvrrv aprfsippss
      241 qevmpggsvn ltcvavgapm pyvkwmmgae eltkedempv grnvlelsnv vrsanytcva
      301 isslgmieat aqvtvkalpk ppidlvvtet tatsvtltwd sgnsepvtyy giqyraagte
      361 gpfqevdgva ttrysiggls pfseyafrvl avnsigrgpp seavrartge qapsspprrv
      421 qarmlsastm lvqweppeep nglvrgyrvy ytpdsrrppn awhkhntdag llttvgsllp
      481 gityslrvla ftavgdgpps ptiqvktqqg vpaqpadfqa evesdtriql swllppqeri
      541 imyelvywaa ededqqhkvt fdptssytle dlkpdtlyrf qlaarsdmgv gvftptiear
      601 taqsmpsgpp rkveveplns tavhvywklp vpskqhgqir gyqvtyvrle ngeprglpii
      661 qdvmlaeaqe ttisgltpet tysvtvaayt tkgdgarskp kivtttgavp grptmmistt
      721 amntallqwh ppkelpgell gyrlqycrad earpntidfg kddqhftvtg lhkgttyifr
      781 laaknraglg eefekeirtp edlpsgfpqn lhvtglttst telawdppvl aerngriisy
      841 tvvfrdinsq qelqnittdt rftltglkpd ttydikvraw tskgsgplsp siqsrtmpve
      901 qvfaknfrva aamktsvlls wevpdsyksa vpfkilyngq svevdghsmr kliadlqpnt
      961 eysfvlmnrg ssagglqhlv sirtapdllp hkplpasayi edgrfdlsmp hvqdpslvrw
     1021 fyivvvpidr vggsmltprw stpeelelde lleaieqgge eqrrrrrqae rlkpyvaaql
     1081 dvlpetftlg dkknyrgfyn rplspdlsyq cfvlaslkep mdqkryassp ysdeivvqvt
     1141 paqqqeepem lwvtgpvlav iliiliviai llfkrkrths psskdeqsig lkdsllahss
     1201 dpvemrrlny qtpgmrdhpp ipitdladni erlkandglk fsqeyesidp gqqftwensn
     1261 levnkpknry anviaydhsr viltsidgvp gsdyinanyi dgyrkqnayi atqgplpetm
     1321 gdfwrmvweq rtatvvmmtr leeksrvkcd qywpargtet cgliqvtlld tvelatytvr
     1381 tfalhksgss ekrelrqfqf mawpdhgvpe yptpilaflr rvkacnplda gpmvvhcsag
     1441 vgrtgcfivi damlermkhe ktvdiyghvt cmrsqrnymv qtedqyvfih ealleaatcg
     1501 htevparnly ahiqklgqvp pgesvtamel efkllasska htsrfisanl pcnkfknrlv
     1561 nimpyeltrv clqpirgveg sdyinasfld gyrqqkayia tqgplaeste dfwrmlwehn
     1621 stiivmltkl remgrekchq ywpaersary qyfvvdpmae ynmpqyilre fkvtdardgq
     1681 srtirqfqft dwpeqgvpkt gegfidfigq vhktkeqfgq dgpitvhcsa gvgrtgvfit
     1741 lsivlermry egvvdmfqtv ktlrtqrpam vqtedqyqlc yraaleylgs fdhyat
//
LOCUS       XP_054224104            1913 aa            linear   PRI 20-MAR-2023
DEFINITION  exophilin-5 isoform X4 [Homo sapiens].
ACCESSION   XP_054224104
VERSION     XP_054224104.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368129.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1913
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1913
                     /product="exophilin-5 isoform X4"
                     /calculated_mol_wt=213236
     CDS             1..1913
                     /gene="EXPH5"
                     /gene_synonym="EBS4; SLAC2-B; SLAC2B"
                     /coded_by="XM_054368129.1:4789..10530"
                     /db_xref="GeneID:23086"
                     /db_xref="HGNC:HGNC:30578"
                     /db_xref="MIM:612878"
ORIGIN      
        1 mlkqpltyrl skemakndpi elptsrsknv tnqkkptpfs srmsfrssfa slfsfrksgk
       61 etsklpslgq kgcdghagpp mpvrgaavqa kiynsplenh lvdstfvpkp avmreesgmp
      121 ppwdasllen effqvlddld sklaqeqsas svntrtplny gsrtqfghfy ssgnrhgnit
      181 erhkkhynet snmsiydilr pgtpregfkt fsprtstiyd myrtreprvf kedyvqkntf
      241 gstslcfdsr qrsalpatgh ftarslhfpa ttqsksgfip prhqqspkrt plssiiwnrs
      301 dssrdrenqe eflrapspme idpadkyvyp rgfqenkrye syhsqnvyqr vslnapmena
      361 mspdtfense nmpfyhqsnt ftrsffsntf grsgeqrrfg qgpfwgqekg hsfwsdfhrs
      421 rksfsssdrd femismeans vsaihghnvs sehwesfssg ygtdvsrgqe ephpwqfdfq
      481 rstldsmvvs hgnetqltph fgtpnvcsmt gssyhvksse lvsqqdsspv evhinkeass
      541 fgiaqtlass fktsfsqisd drrnpqspnl qnptvtlqki fpnkpashpm rshtevtvts
      601 snsvdslpla ksqpnilvte vnnekdlnes iseedkqlsk mdqtnkagei pqpvsqtgis
      661 nslpdfqnpl sqdsaksngf gfnastiiss kksprvfsrk dtskmyipht dksndikqdk
      721 rftenrklgs taslpfiqeh rtppsfprtd qgchqeltvn nedisriitn nhwssaltdt
      781 qnaqyskckl tpghktscds ldlssaalpd sspsknssld apvvpsttvf srrspsdkdp
      841 slgereekdn agknqknqfi vshsenqern dspvpthdev vdvkchshsp frnergkgki
      901 rhhisciekl sktesisvpt sdhrsliean qsnskvseld tiyctlprks ssflihgrqs
      961 gskimaaslr ngpppfqikn nvedamgnym lnkfspsspe sanecskvls dsaleapeat
     1021 ermtnvkssg stsvrkgplp flinramscp sgephastgr egrkkpltsg mdaseltpra
     1081 weriispves dssvrdcslt krqhqkenfq eytekegkma asrrsvfals nedplpfcsd
     1141 lsgkergktl hkvkttstfs vsgdednvkc levvsiyytl prkpskkfcn llqqytqntn
     1201 lliespqvet etfpnalekd kqnystreqs gtpscenlkm svnsdqtltt enmtafrlsn
     1261 rgplaptlqe masveaavsl peeeskarei fsdnlaktpl gdsenkkerg kklqsetlht
     1321 slmlqrknvs eeksencqqs inssnsgpss lpalsevnig nsqtrrsswe ctgsgraipf
     1381 tgsgkcpqkd htstavgdgs sgsqpregrg digtncqkmt nktlshsesq vfaltpalhk
     1441 lqlgeetqsd epnleslqse prelpqrsqe anmtesrkae demqksawdq pslpegnknk
     1501 tnlddlvkge nrssvkhrla amskasrkfp akdvsprrhv atifpqsgsr sgfdhlslgt
     1561 vecnplfpep tpksaesige srlsengkhv kksenllpit vlpnrepsth vsnqksnsis
     1621 qrhqnefknv sespskhens kdvtaaqnlv resgapspit ftslreaefs dnqrrlsppf
     1681 plepaqksrv ssplasflqq qrsasslewe pephlyrsks lksinvhgdl lrkshppkvr
     1741 erhfsestsi dnalsrltlg nefsvnngys rrfrsfselp scdgnesway rsgtktgprs
     1801 aisiyrpidy gifgkeqqla flenvkrslt qgrlwkpsfl knpgflkddl rnppnpsesl
     1861 ssnspssqvp edglspsepl niyeddpvds dcdtdtttdd eyyldendke sel
//
LOCUS       XP_054226349            2463 aa            linear   PRI 20-MAR-2023
DEFINITION  neuron navigator 2 isoform X4 [Homo sapiens].
ACCESSION   XP_054226349
VERSION     XP_054226349.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370374.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2463
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2463
                     /product="neuron navigator 2 isoform X4"
                     /calculated_mol_wt=265299
     CDS             1..2463
                     /gene="NAV2"
                     /gene_synonym="HELAD1; POMFIL2; RAINB1; STEERIN2; UNC53H2"
                     /coded_by="XM_054370374.1:860..8251"
                     /db_xref="GeneID:89797"
                     /db_xref="HGNC:HGNC:15997"
                     /db_xref="MIM:607026"
ORIGIN      
        1 mpailvaskm ksglpkpvhs aapilhvppa ragpqpcylk lgskvevskt typsqiplks
       61 qvlqglqepa geglplrksg svengfdtqi ytdwanhyla ksghkrlikd lqqdvtdgvl
      121 laqiiqvvan ekiedingcp knrsqmieni daclnflaak giniqglsae eirngnlkai
      181 lglffslsry kqqqqqpqkq hlssplppav sqvagapsqc qagtpqqqvp vtpqapcqph
      241 qpaphqqska qaemqssass kdssqskiir ftlgqkkisr lpgptarvsa agseaktrgg
      301 sttannrrsq sfnnydkskp vtspppppss hekeplassa sshpgmsdna paslesgsss
      361 tptncstssa ipqpgaatkp wrskslsvkh satvsmlsvk ppgpeaprpt peamkpapnn
      421 qksmleklkl fnskggskag egpgsrdtsc erletlpsfe eseeleaasr mlttvgpass
      481 spkialkgia qrtfsraltn kksslkgnek ekekqqrekd kekskdlakr asvterldlk
      541 eepkedpsga avpempkkss kiasfipkgg klnsakkepm apshsgipkp gmksmpgksp
      601 sapapskege rsrsgklssg lpqqkpqldg rhssssssla ssegkgpggt tlnhsissqt
      661 vsgsvgttqt tgsntvsvql pqpqqqynhp ntatvapfly rsqtdtegnv taessstgvs
      721 vepshftktg qpaleeltge dpearrlrtv kniadlrqnl eetmsslrgt qvthstlett
      781 fdtnvttems grsilsltgr ptplswrlgq ssprlqagda psmgngyppr anasrfinte
      841 sgryvysapl rrqlasrgss vchvdvsdka gdemdlegis mdapgymsdg dvlsknirtd
      901 ditsgymtdg glglytrrln rlpdgmavvr etlqrntslg lgdadswdds ssvssgisdt
      961 idnlstddin tsssissyan tpassrknld vqtdaekhsq vernslwsgd dvkksdggsd
     1021 sgikmepgsk wrrnpsdvsd esdkstsgkk npvisqtgsw rrgmtaqvgi tmprtkasap
     1081 agalktpgtg ktddakvsek grlspkasqv krspsdagrs sgdeskkplp sssrtptana
     1141 nsfgfkkqsg saaglamita sgvtvtsrsa tlgkipkssa lvsrsagrks smdgaqnqdd
     1201 gylalssrtn lqyrslprps ksnsrngagn rsstssidsn issksaglpv pklrepskta
     1261 lgsslpglvn qtdkekgiss dnesvascns vkvnpaaqpv sspaqtslqp gakypdvasp
     1321 tlrrlfggkp tkqvpiatae nmknsvvisn phatmtqqgn ldspsgsgvl ssgsssplys
     1381 knvdlnqspl asspssahsa psnsltwgtn assssavskd glgfqsvssl htscesidis
     1441 lssggvpshn sstgliassk ddsltpfvrt nsvkttlses dphldrntlp kkglrytpts
     1501 qlrtqedake wlrshsaggl qdtaanspfs sgssvtspsg trfnfsqlas pttvtqmsls
     1561 nptmlrthsl snadgqydpy tdsrfrnssm sldeksrtms rsgsfrdgfe eeswekssvd
     1621 nfvsrlhssl hfslplfhha ryelvhgssl slvsstssvy stpeekcqse irklrrelda
     1681 sqekvsaltt qltanahlva afeqslgnmt irlqsltmta eqkdselnel rktiellkkq
     1741 naaaqaaing vintpelnck gngtaqsadl rirrqhssds vssinsatsh ssvgsniesd
     1801 skkkkrknwl rssfkqafgk kkspksassh sdieemtdss lpsspklphn gstgstpllr
     1861 nshsnslise cmdseaetvm qlrnelrdke mkltdirlea lssahqldql reamnrmqse
     1921 ieklkaendr lksesqgsgc srapsqvsis asprqsmgls qhslnltest sldmllddtg
     1981 ecsarkeggr hvkivvsfqe emkwkedsrp hlfligcigv sgktkwdvld gvvrrlfkey
     2041 iihvdpvsql glnsdsvlgy sigeikrsnt setpellpcg ylvgenttis vtvkglaens
     2101 ldslvfesli pkpilqryvs lliehrriil sgpsgtgkty lanrlseyiv lregreltdg
     2161 viatfnvdhk sskelrqyls nladqcnsen navdmplvii ldnlhhvssl geifngllnc
     2221 kyhkcpyiig tmnqatsstp nlqlhhnfrw vlcanhtepv kgflgrflrr klmeteisgr
     2281 vrnmelvkii dwipkvwhhl nrfleahsss dvtigprlfl scpidvdgsr vwftdlwnys
     2341 iipylleair eglqlygrra pwedpakwvm dtypwaaspq qhewppllql rpedvgfdgy
     2401 smpregstsk qmppsdaegd plmnmlmrlq eaanysspqs ydsdsnsnsh hddildssle
     2461 stl
//
LOCUS       XP_054228642            1248 aa            linear   PRI 20-MAR-2023
DEFINITION  membrane-associated phosphatidylinositol transfer protein 2 isoform
            X17 [Homo sapiens].
ACCESSION   XP_054228642
VERSION     XP_054228642.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372667.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1248
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1248
                     /product="membrane-associated phosphatidylinositol
                     transfer protein 2 isoform X17"
                     /calculated_mol_wt=136025
     CDS             1..1248
                     /gene="PITPNM2"
                     /gene_synonym="NIR-3; NIR3; RDGB2; RDGBA2"
                     /coded_by="XM_054372667.1:353..4099"
                     /db_xref="GeneID:57605"
                     /db_xref="HGNC:HGNC:21044"
                     /db_xref="MIM:608920"
ORIGIN      
        1 mcayklckve frywgmqski erfihdtglr rvmvrahrqa wcwqdewygl smenirelek
       61 eaqlmlsrkm aqfnedgeea telvkheavs dqtsgeppep sssngeplvg rglkkqwsts
      121 skssrsskrg aspsrhsise wrmqsiards dessddeffd ahedlsdtee mfpkditkws
      181 sndlmdkies pepedtqdgl yrqgapefrv assveqlnii edevsqplaa ppskihvlll
      241 vlhggtildt gagdpsskkg dantianvfd tvmrvhypsa lgrlairlvp cppvcsdafa
      301 lvsnlspysh degclsssqd hiplaalpll atsspqyqea vatviqranl aygdfiksqe
      361 gmtfngqvcl igdcvggila fdalcysnqp vsesqsssrr gsvvsmqdnd llspgilmna
      421 ahccgggggg gggggssggg gssggssles srhlsrsnvd iprsngtedp krqlprkrsd
      481 sstyeldtiq qhqaflsslh asvlrtepcs rhsssstmld gtgalgrfdf eitdlflfgc
      541 plglvlalrk tvipaldvfq lrpacqqvyn lfhpadpsas rlepllerrf halppfsvpr
      601 yqryplgdgc stllvetvqr npelvleggp laplphgdgf letsmpvpap twqdgprpgc
      661 aecvyppllv vtsaslvdlv lrdtpqsmps lathsswdlg advlqthnaa fqehgapssp
      721 gtapasrgfr raseisiasq vsgmaesyta ssiaqkapda lshtpsvrrl sllalpapsp
      781 ttpgphppar kaspglerap glpeldigev aakwwgqkri dyalycpdal tafptvalph
      841 lfhasywest dvvsfllrqv mrhdnssile ldgkevsvft pskprekwqr krthvklrnv
      901 tanhrindal anedgpqvlt grfmygpldm vtltgekvdv himtqppsge wlyldtlvtn
      961 nsgrvsytip eshrlgvgvy pikmvvrgdh tfadsyitvl pkgtefvvfs idgsfaasvs
     1021 imgsdpkvra gavdvvrhwq dlgyliiyvt grpdmqkqrv vawlaqhnfp hgvvsfcdgl
     1081 vhdplrhkan flklliselh lrvhaaygst kdvavysais lspmqiyivg rptkklqqqc
     1141 qfitdgyaah laqlkyshra rparntatrm alrkgsfglp gqgdflrsrn hllrtisaqp
     1201 sgpshrhert qsqadgeqrg qrsmsvaagc wgramtgrle pgaaagpk
//
LOCUS       XP_054230082             226 aa            linear   PRI 20-MAR-2023
DEFINITION  sperm acrosome-associated protein 7 isoform X2 [Homo sapiens].
ACCESSION   XP_054230082
VERSION     XP_054230082.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374107.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..226
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..226
                     /product="sperm acrosome-associated protein 7 isoform X2"
                     /calculated_mol_wt=24357
     CDS             1..226
                     /gene="SPACA7"
                     /gene_synonym="C13orf28"
                     /coded_by="XM_054374107.1:32..712"
                     /db_xref="GeneID:122258"
                     /db_xref="HGNC:HGNC:29575"
ORIGIN      
        1 mavsqgdgtl cfvlllccwq etelrprtvi pdeilvqeil dlnkttpsem pstastlstp
       61 lhagidenyq aggsenyhel lenlqfspgi evkisndean ananlhgdps enyrgpqvsp
      121 gseksvsska dgislhtelp gvgrgvipal swppqlapml gltqsptaaq tstvpeliqe
      181 knskntqyen lsildqilqn igrssgnifh keqqrtsaqr rsqgsq
//
LOCUS       XP_054230525            1068 aa            linear   PRI 20-MAR-2023
DEFINITION  LIM domain only protein 7 isoform X27 [Homo sapiens].
ACCESSION   XP_054230525
VERSION     XP_054230525.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374550.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1068
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1068
                     /product="LIM domain only protein 7 isoform X27"
                     /calculated_mol_wt=121302
     CDS             1..1068
                     /gene="LMO7"
                     /gene_synonym="FBX20; FBXO20; LMO7b; LOMP"
                     /coded_by="XM_054374550.1:631..3837"
                     /db_xref="GeneID:4008"
                     /db_xref="HGNC:HGNC:6646"
                     /db_xref="MIM:604362"
ORIGIN      
        1 mqdynkddms yrrisavepk talpfnrflp nksrqpsyvp aplrkkkpdk hednrrswas
       61 pvyteadgtf srsksmsdvs aedvqnlrql ryeemqkiks qlkeqdqkwq ddlakwkdrr
      121 ksytsdlqkk keereeiekq alekskrssk tfkemlqdre sqnqkstvps rrrmysfddv
      181 leegkrpptm tvseasyqse rveekgatyp seipkedstt fakredrvtt eiqlpsqspv
      241 eeqspaslss lrsrstqmes trvsaslprs yrktdtvrlt svvtprpfgs qtrgisslpr
      301 sytmddawky ngdvedikrt pnnvvstpap spdasqlass lssqkevaat eedvtrlpsp
      361 tspfsslsqd qaatskatls stsgldlmse sgegeispqr evsrsqdqfs dmrisinqtp
      421 gksldfgfti kwdipgifva sveagspaef sqlqvddeii ainntkfsyn dskeweeama
      481 kaqetghlvm dvrrygkags petkwidats giynsekssn lsvttdfses lqssnieske
      541 ingihdesna feskasesis lknlkrrsqf feqgssgfsy sswvylcgss dsvvpdlpvp
      601 tisapsrwvw dqeeerkrqe rwqkeqdrll qekyqreqek lreewqrakq eaerenskyl
      661 deelmvlssn smslttreps latweatwse gskssdregt rageeerrqp qeevvhedqg
      721 kkpqdqlvie rerkweqqlq eeqeqkrlqa eaeeqkrpae eqkrqaeier etsvriyqyr
      781 rpvdsydipk teeassgflp gdrnksrstt elddystnkn gnnkyldqig nmtssqrrsk
      841 keqvpsgael erqqilqemr krtplhndns wirqrsasvn kepvslpgim rrgesldnld
      901 sprsnswrqp pwlnqptgfy asssvqdfsr pppqlvstsn raymrnpsss vpppsagsvk
      961 tsttgvattq sptprshsps asqsgsqlrn rsvsgkrics ycnnilgkga amiieslglc
     1021 yhlhcfkcva cecdlggsss gaevrirnhq lycndcylrf ksgrptam
//
LOCUS       XP_054230915            1223 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger MYM-type protein 2 isoform X6 [Homo sapiens].
ACCESSION   XP_054230915
VERSION     XP_054230915.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374940.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1223
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1223
                     /product="zinc finger MYM-type protein 2 isoform X6"
                     /calculated_mol_wt=136534
     CDS             1..1223
                     /gene="ZMYM2"
                     /gene_synonym="FIM; MYM; NECRC; RAMP; SCLL; ZNF198"
                     /coded_by="XM_054374940.1:121..3792"
                     /db_xref="GeneID:7750"
                     /db_xref="HGNC:HGNC:12989"
                     /db_xref="MIM:602221"
ORIGIN      
        1 mcillsavvt wipsldllvf fgmdtssvgg leltdqtpvl lgstamatsl tnvgnsfsgp
       61 anplvsrsnk fqnssveddd dvvfiepvqp pppsvpvvad qrtitftssk neelqgndsk
      121 itpsskelas qkgsvsetiv iddeedmetn qgqeknssnf ierrppetkn rtndvdfsts
      181 sfsrskvnag mgnsgittep dseiqianvt tletgvssvn dgqlentdgr dmnlmithvt
      241 slqntnlgdv snglqssnfg vniqtytpsl tsqtktgvgp fnpgrmnvag dvfqngesat
      301 hhnpdswisq sasfprnqkq pgvdslspva slpkqifqps vqqqptkpvk vtcanckkpl
      361 qkgqtayqrk gsahlfcstt clssfshkpa pkklcvmckk dittmkgtiv aqvdssesfq
      421 efcstsclsl yedkqnptkg alnksrctic gklteirhev sfknmthklc sdhcfnryrm
      481 anglimncce qcgeylpskg agnnvlvidg qqkrfccqsc vseykqvgsh psflkevrdh
      541 mqdsflmqpe kygklttctg crtqcrffdm tqcigpngym epycstacmn shktkyaksq
      601 slgiichfck rnslpqyqat mpdgklynfc nsscvakfqa lsmqsspngq fvapsdiqlk
      661 cnycknsfcs kpeilewenk vhqfcsktcs ddykklhciv tyceycqeek tlhetvnfsg
      721 vkrpfcsegc kllykqdfar rlglrcvtcn ycsqlckkga tkeldgvvrd fcsedcckkf
      781 qdwyykaarc dccksqgtlk ervqwrgemk hfcdqhcllr fycqqnepnm ttqkgpenlh
      841 ydqgcqtsrt kmtgsappps ptpnkemknk avlckpltmt katyckphmq tkscqtddtw
      901 rteyvpvpip vpvyipvpmh mysqnipvpt tvpvpvpvpv flpapldsse kipaaieelk
      961 skvssdaldt elltmtdmms edegktettn insviietdi igsdllknsd petqssmpdv
     1021 pyepdldiei dfpraaeeld menefllppv fgeeyeeqpr prskkkgakr kavsgyqshd
     1081 dssdnsecsf pfkytygvna wkhwvktrql dedllvldel kssksvklke dllshttael
     1141 nyglahfvne irrpngenya pdsiyylclg iqedrnllki lphlsasvqt vmlpwiqcrv
     1201 altlmfvqgf lhqwpalsif vwk
//
LOCUS       XP_054234755             834 aa            linear   PRI 20-MAR-2023
DEFINITION  little elongation complex subunit 2 isoform X4 [Homo sapiens].
ACCESSION   XP_054234755
VERSION     XP_054234755.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378780.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..834
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..834
                     /product="little elongation complex subunit 2 isoform X4"
                     /calculated_mol_wt=93465
     CDS             1..834
                     /gene="ICE2"
                     /gene_synonym="BRCC1; NARG2"
                     /coded_by="XM_054378780.1:233..2737"
                     /db_xref="GeneID:79664"
                     /db_xref="HGNC:HGNC:29885"
                     /db_xref="MIM:610835"
ORIGIN      
        1 msskmvisep glnwdispkn glktffsren ykdhsmapsl kelrvlsnrr igenlnasas
       61 svenepavss atqakekvkt tigmvllpkp rvpyprfsrf sqreqrsyvd llvkyakipa
      121 nskavginkn dylqyldmkk hvneevtefl kflqnsakkc aqdynmlsdd arlftekilr
      181 acieqvkkys efytlhevts lmgffpfrve mglklektll algsvkyvkt vfpsmpiklq
      241 lskddiatie tseqtaeamh ydiskdpnae klvsryhpqi altsqslftl lnnhgptyke
      301 qweipvciqv ipvagskpvk viyinsplpq kkmtmrernq ifhevplkfm mskntsvpvs
      361 avfmdkpeef isemdmscev necrkiesle nlyldfdddv teletfgvtt tkvskspspa
      421 ststvpnmtd aptapkagtt tvapsapdis ansrslsqil meqlqkekql vtgmdggpee
      481 cknkddqgfe scekvsnsdk pliqdsdlkt sdalqlensq eietsnkndm tidilhadge
      541 rpnvlenldn skektvgsea aktedtvlcs sdtdeeclii dtecknnsdg ktavvgsnls
      601 srpaspnsss gqasvgnqtn tacspeescv lkkpikrvyk kfdpvgeilk mqdellkpis
      661 rkvpelplmn lenskqpsvs eqlsgpsdss swpksgwpsa fqkpkgrlpy elqdyvedts
      721 eylapqegnf vyklfslqdl lllvrcsvqr ietrprskkr kkirrqfpvy vlpkveyqac
      781 ygvealtese lcrlwtesll hsnssfyvgr csrkslevll kveiagptle clih
//
LOCUS       XP_054171342             404 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein SPEM2 isoform X1 [Homo sapiens].
ACCESSION   XP_054171342
VERSION     XP_054171342.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315367.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 14% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..404
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..404
                     /product="uncharacterized protein SPEM2 isoform X1"
                     /calculated_mol_wt=46066
     CDS             1..404
                     /gene="SPEM2"
                     /gene_synonym="C17orf74"
                     /coded_by="XM_054315367.1:276..1490"
                     /db_xref="GeneID:201243"
                     /db_xref="HGNC:HGNC:27315"
ORIGIN      
        1 msrptqyssf achhfsnhhs ssllrcvrrr rrrhrrcrrr ccnhqqrpqn yrqiphshsv
       61 frnphrsqkm sqlhrvpffd qedpdsylee ednlpfpypk yprrgwggfy qraglpsnvg
      121 lwghqggila slpppslyls pelrcmpkrv earselrlqs ygrhgsqsrl wgnveaeqwa
      181 sspppphrlp pnpswvpvgh spypsvgwml ydswdqrrrg tegferppas vsrnarpeaq
      241 gcrehhspqs hqqsllghay gqshrsphps teplgyssqd prevrrraad waealpawrp
      301 lttsasltvl deashqrtpa pssvlvphss qpwpkvqaad pappptmfvp lsrnpggnan
      361 yqvydslelk rqvqksrars sslppastst lrpslhrsqt ekln
//
LOCUS       XP_054172895             824 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM83G isoform X1 [Homo sapiens].
ACCESSION   XP_054172895
VERSION     XP_054172895.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316920.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..824
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..824
                     /product="protein FAM83G isoform X1"
                     /calculated_mol_wt=90841
     CDS             1..824
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /coded_by="XM_054316920.1:224..2698"
                     /db_xref="GeneID:644815"
                     /db_xref="HGNC:HGNC:32554"
                     /db_xref="MIM:615886"
ORIGIN      
        1 mafsqvqcld dnhvnwrsse skpeffysee qrlalealva rgrdafyevl krenirdfls
       61 elelkrilet ievydpgsed prgtgpsqgp edngvgdgee asgadgvpie aeplpsleyw
      121 pqksdrsipq ldlgwpdtia yrgvtrasvy mqppidgqah ikevvrkmis qaqkviavvm
      181 dmftdvdifk dlldagfkrk vavyiivdes nvkyflhmce racmhlghlk nlrvrssggt
      241 efftrsatkf kgalaqkfmf vdgdravcgs ysftwsaart drnvisvlsg qvvemfdrqf
      301 qelylmshsv slkgipmeke pepepivlps vvplvpagtv akklvnpkya lvkaksvdei
      361 akissekqea kkplglkgpa laehpgelpe llppihpgll hleranmfey lptwvepdpe
      421 pgsdilgyin iidpniwnpq psqmnrikir dtsqasaqhq lwkqsqdsrp rpepcpppep
      481 sapqdgvpae nglpqgdpep lppvpkprtv pvadvlards sdigwvlelp keeapqngtd
      541 hrlprmagpg haplqrqlsv tqddpeslgv glpngldgve eeddddyvtl sdqdshsgss
      601 grgpgprrps vassvseeyf evrehsvplr rrhseqvang ptppprrqls aphitrgtfv
      661 gpqggspwaq srgreeadal krmqaqrstd keaqgqqfhh hrvpasgtrd kdgfpgppry
      721 rsaadsvqss trnagpamag phhwqakggq vprllpdpgs prlaqnarpm tdgrateehp
      781 spfgipyskl sqskhlkart ggsqwassds krraqaprdh rkdp
//
LOCUS       XP_054176483             549 aa            linear   PRI 20-MAR-2023
DEFINITION  DAZ-associated protein 1 isoform X6 [Homo sapiens].
ACCESSION   XP_054176483
VERSION     XP_054176483.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320508.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..549
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..549
                     /product="DAZ-associated protein 1 isoform X6"
                     /calculated_mol_wt=58753
     CDS             1..549
                     /gene="DAZAP1"
                     /coded_by="XM_054320508.1:1738..3387"
                     /db_xref="GeneID:26528"
                     /db_xref="HGNC:HGNC:2683"
                     /db_xref="MIM:607430"
ORIGIN      
        1 mgdrlpfyae stvcsdlavw sccvremlvt lrsallaspl qvrwvpcrrv lsldgsrpsl
       61 rqmaalrtpw vcgvpyplgg lgslrsslfl mqsphcslpw rrqeippdpa wragpgacmg
      121 agstpqetws lgapcsgtlv avqllpwest pgrklfvggl dwsttqetlr syfsqygevv
      181 dcvimkdktt nqsrgfgfvk fkdpncvgtv lasrphtldg rnidpkpctp rgmqpertrp
      241 kegwkgprsd nsksnkifvg giphncgete lreyfkkfgv vtevvmiyda ekqrprgfgf
      301 itfedeqsvd qavnmhfhdi mgkkvevkra eprdsksqap gqpgasqwgs rvvpnaangw
      361 agqppptwqq gygpqgmwvp agqaiggygp ppagrgappp pppftsyivs tppggfpppq
      421 gfpqgygapp qfsfgygppp pppdqfappg vppppatpga aplafpppps qaapdmskpp
      481 taqpdfpygq yagygqdlsg fgqgfsdpsq qppsyggpsv pgsggppagg sgfgrgqnhn
      541 vqgfhpyrr
//
LOCUS       XP_054177415             444 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 302 isoform X1 [Homo sapiens].
ACCESSION   XP_054177415
VERSION     XP_054177415.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321440.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..444
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..444
                     /product="zinc finger protein 302 isoform X1"
                     /calculated_mol_wt=50516
     CDS             1..444
                     /gene="ZNF302"
                     /gene_synonym="HSD16; MST154; MSTP154; ZNF135L; ZNF140L;
                     ZNF327"
                     /coded_by="XM_054321440.1:248..1582"
                     /db_xref="GeneID:55900"
                     /db_xref="HGNC:HGNC:13848"
ORIGIN      
        1 msqrqypecy lapngclvsn cgvnkmsnee lvgqnhgmeg eactggdvtf sdvaidfshe
       61 ewacldsaqr dlykdvmvqn yenlvsvagl svtkpyviml ledgkepwmm ekklskdwes
      121 rwenkelstk kdiydedspq pvtmekvvkq syefsnsnkn leytecdtfr stfhskstls
      181 epqnnsaegn shkydilkkn lskksvikse ringgkklln snksgaafnq sksltlpqtc
      241 nrekiytcse cgkafgkqsi lsrhwrihtg ekpyecrecg ktfshgsslt rhqishsgek
      301 pykciecgka fshgssltnh qsthtgekpy ecmncgksfs rvslliqhlr ihtqekhyec
      361 ricgkafihs sslihhqksh tgekpyecre cgkafccssh ltqhqrihsm kkkyecnkcl
      421 kvfssfsflv qhqsihteek pfev
//
LOCUS       XP_054178347             451 aa            linear   PRI 20-MAR-2023
DEFINITION  transcriptional enhancer factor TEF-4 isoform X2 [Homo sapiens].
ACCESSION   XP_054178347
VERSION     XP_054178347.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322372.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..451
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..451
                     /product="transcriptional enhancer factor TEF-4 isoform
                     X2"
                     /calculated_mol_wt=49509
     CDS             1..451
                     /gene="TEAD2"
                     /gene_synonym="ETF; TEAD-2; TEF-4; TEF4"
                     /coded_by="XM_054322372.1:51..1406"
                     /db_xref="GeneID:8463"
                     /db_xref="HGNC:HGNC:11715"
                     /db_xref="MIM:601729"
ORIGIN      
        1 mgepragaal ddgsgwtgse egseegtggs egaggdggpd aegvwspdie qsfqealaiy
       61 ppcgrrkiil sdegkmygrn eliaryiklr tgktrtrkqv sshiqvlarr ksreiqsklk
      121 alnvdqvskd kafqtmatms saqlisapsl qaklgptgpq aselfqfwsg gsgppwnvpd
      181 vkpfsqtpft lsltppstdl pgyeppqals plppptpspp awqarglgta rlqlvefsaf
      241 veppdavdsy qrhlfvhisq hcpspgappl esvdvrqiyd kfpekkgglr elydrgppha
      301 fflvkfwadl nwgpsgeeag aggsissggf ygvssqyesl ehmtltcssk vcsfgkqvve
      361 kveteraqle dgrfvyrllr spmceylvnf lhklrqlper ymmnsvlenf tilqvvtnrd
      421 tqelllctay vfevstserg aqhhiyrlvr d
//
LOCUS       XP_054196444             218 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 150A isoform X4 [Homo sapiens].
ACCESSION   XP_054196444
VERSION     XP_054196444.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340469.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..218
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..218
                     /product="transmembrane protein 150A isoform X4"
                     /calculated_mol_wt=22904
     CDS             1..218
                     /gene="TMEM150A"
                     /gene_synonym="TM6P1; TMEM150; TTN1"
                     /coded_by="XM_054340469.1:334..990"
                     /db_xref="GeneID:129303"
                     /db_xref="HGNC:HGNC:24677"
                     /db_xref="MIM:616757"
ORIGIN      
        1 myalwrtgpt tspalltlls kgvprpaapw tmspssvali cllrygqlle qsrhswvntt
       61 alitgctnaa gllvvgnfqv dharslhyvg agvafpagll fvclhcalsy qgatapldla
      121 vaylrsvlav iafitlvlsg vffvhessql qhgaalcewv cvidilifyg tfsyefgavs
      181 sdtlvaalqp tpgrackssg ssststhlnc apesiami
//
LOCUS       XP_054197592            1268 aa            linear   PRI 20-MAR-2023
DEFINITION  vigilin isoform X1 [Homo sapiens].
ACCESSION   XP_054197592
VERSION     XP_054197592.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341617.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1268
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1268
                     /product="vigilin isoform X1"
                     /calculated_mol_wt=141309
     CDS             1..1268
                     /gene="HDLBP"
                     /gene_synonym="HBP; PRO2900; VGL"
                     /coded_by="XM_054341617.1:18914..22720"
                     /db_xref="GeneID:3069"
                     /db_xref="HGNC:HGNC:4857"
                     /db_xref="MIM:142695"
ORIGIN      
        1 mssvavltqe sfaehrsglv pqqikvatln seeesdppty kdafpplpek aaclesaqep
       61 agawgnkirp ikasvitqvf hvpleerkyk dmnqfgegeq akicleimqr tgahlelsla
      121 kdqglsimvs gkldavmkar kdivarlqtq asatvaipke hhrfvigkng eklqdlelkt
      181 atkiqiprpd dpsnqikitg tkegiekarh evllisaeqd kraverleve kafhpfiagp
      241 ynrlvgeimq etgtrinipp psvnrteivf tgekeqlaqa varikkiyee kkkktttiav
      301 evkksqhkyv igpkgnslqe ilertgvsve ippsdsiset vilrgepekl gqaltevyak
      361 ansftvssva apswlhrfii gkkgqnlaki tqqmpkvhie ftegedkitl egptedvnva
      421 qeqiegmvkd linrmdyvei nidhkfhrhl igksganinr ikdqykvsvr ippdseksnl
      481 iriegdpqgv qqakrellel asrmenertk dliieqrfhr tiigqkgeri reirdkfpev
      541 iinfpdpaqk sdivqlrgpk nevekctkym qkmvadlven sysisvpifk qfhkniigkg
      601 ganikkiree sntkidlpae nsnsetiiit gkranceaar srilsiqkdl aniaevevsi
      661 paklhnslig tkgrlirsim eecggvhihf pvegsgsdtv virgpssdve kakkqllhla
      721 eekqtksftv dirakpeyhk fligkgggki rkvrdstgar vifpaaedkd qdlitiigke
      781 davreaqkel ealiqnldnv vedsmlvdpk hhrhfvirrg qvlreiaeey ggvmvsfprs
      841 gtqsdkvtlk gakdcveaak kriqeiiedl eaqvtlecai pqkfhrsvmg pkgsriqqit
      901 rdfsvqikfp dreenavhst epvvqengde agegreakdc dpgsprrcdi iiisgrkekc
      961 eaakealeal vpvtievevp fdlhryvigq kgsgirkmmd efevnihvpa pelqsdiiai
     1021 tglaanldra kagllervke lqaeqedral rsfklsvtvd pkyhpkiigr kgavitqirl
     1081 ehdvniqfpd kddgnqpqdq ititgyeknt eaardailri vgeleqmvse dvpldhrvha
     1141 riigargkai rkimdefkvd irfpqsgapd pncvtvtglp enveeaidhi lnleeeylad
     1201 vvdsealqvy mkppaheeak apsrgfvvrd apwtasssek apdmssseef psfgaqvapk
     1261 tlpwgpkr
//
LOCUS       XP_054199042             362 aa            linear   PRI 20-MAR-2023
DEFINITION  atypical chemokine receptor 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054199042
VERSION     XP_054199042.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343067.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..362
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..362
                     /product="atypical chemokine receptor 3 isoform X1"
                     /calculated_mol_wt=41362
     CDS             1..362
                     /gene="ACKR3"
                     /gene_synonym="CMKOR1; CXC-R7; CXCR-7; CXCR7; GPR159;
                     RDC-1; RDC1"
                     /coded_by="XM_054343067.1:668..1756"
                     /db_xref="GeneID:57007"
                     /db_xref="HGNC:HGNC:23692"
                     /db_xref="MIM:610376"
ORIGIN      
        1 mdlhlfdyse pgnfsdiswp cnssdcivvd tvmcpnmpnk svllytlsfi yififvigmi
       61 ansvvvwvni qakttgydth cyilnlaiad lwvvltipvw vvslvqhnqw pmgeltckvt
      121 hlifsinlfg siffltcmsv drylsityft ntpssrkkmv rrvvcilvwl lafcvslpdt
      181 yylktvtsas nnetycrsfy pehsikewli gmelvsvvlg favpfsiiav fyfllarais
      241 assdqekhss rkiifsyvvv flvcwlpyhv avlldifsil hyipftcrle halftalhvt
      301 qclslvhccv npvlysfinr nyryelmkaf ifkysaktgl tklidasrvs eteysaleqs
      361 tk
//
LOCUS       XP_054200068             323 aa            linear   PRI 20-MAR-2023
DEFINITION  CYFIP-related Rac1 interactor A isoform X1 [Homo sapiens].
ACCESSION   XP_054200068
VERSION     XP_054200068.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344093.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..323
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..323
                     /product="CYFIP-related Rac1 interactor A isoform X1"
                     /calculated_mol_wt=37182
     CDS             1..323
                     /gene="CYRIA"
                     /gene_synonym="CYRI-A; FAM49A"
                     /coded_by="XM_054344093.1:261..1232"
                     /db_xref="GeneID:81553"
                     /db_xref="HGNC:HGNC:25373"
ORIGIN      
        1 mgnllkvltr eienyphffl dfenaqpteg ereiwnqisa vlqdsesila dlqaykgagp
       61 eirdaiqnpn diqlqekawn avcplvvrlk rfyefsirle kalqsllesl tcppytptqh
      121 lereqalake faeilhftlr fdelkmrnpa iqndfsyyrr tisrnrinnm hldienevnn
      181 emanrmslfy aeatpmlktl snatmhfvse nktlpientt dclstmtsvc kvmletpeyr
      241 srftseetlm fcmrvmvgvi ilydhvhpvg afcktskidm kgcikvlkeq apdsveglln
      301 alrfttkhln destskqira mlq
//
LOCUS       XP_047299926             234 aa            linear   PRI 20-MAR-2023
DEFINITION  peptidyl-prolyl cis-trans isomerase A-like isoform X2 [Homo
            sapiens].
ACCESSION   XP_047299926
VERSION     XP_047299926.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047443970.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 30% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..234
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..234
                     /product="peptidyl-prolyl cis-trans isomerase A-like
                     isoform X2"
                     /calculated_mol_wt=25463
     Region          4..162
                     /region_name="cyclophilin_ABH_like"
                     /note="Cyclophilin A, B and H-like cyclophilin-type
                     peptidylprolyl cis- trans isomerase (PPIase) domain. This
                     family represents the archetypal cystolic cyclophilin
                     similar to human cyclophilins A, B and H. PPIase is an
                     enzyme which accelerates protein folding...; cd01926"
                     /db_xref="CDD:238907"
     Site            order(54..55,60,111,113,121)
                     /site_type="active"
                     /db_xref="CDD:238907"
     CDS             1..234
                     /gene="PPIAP60"
                     /coded_by="XM_047443970.1:1..705"
                     /db_xref="GeneID:107985791"
                     /db_xref="HGNC:HGNC:53684"
ORIGIN      
        1 mvnptvffdi svsgkplghv sfrifadkls ktaqnfrals tgekgldykg scfhriipgf
       61 mcqggdftyn ngtggkslyg ekfddenfil krirpgilsm akagpntngs qffictakte
      121 wligkhvvfg kvkegmnive amepfgsrng ktskkitiad cgqlwiladp siddllllav
      181 srvaslkppe qrpgifseqq ptrqleetpg lscsqsvplm srlqaepgpm tqpt
//
LOCUS       XP_054179707            1506 aa            linear   PRI 20-MAR-2023
DEFINITION  ral GTPase-activating protein subunit beta isoform X2 [Homo
            sapiens].
ACCESSION   XP_054179707
VERSION     XP_054179707.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323732.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1506
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1506
                     /product="ral GTPase-activating protein subunit beta
                     isoform X2"
                     /calculated_mol_wt=168036
     CDS             1..1506
                     /gene="RALGAPB"
                     /gene_synonym="KIAA1219; RalGAPbeta"
                     /coded_by="XM_054323732.1:31..4551"
                     /db_xref="GeneID:57148"
                     /db_xref="HGNC:HGNC:29221"
                     /db_xref="MIM:618833"
ORIGIN      
        1 mysewrslhl viqndqghts vlhsypesvg revanavvrp lgqvlgtpsv agsenllktd
       61 kevkwtmevi cygltlpldg etvkycvdvy tdwimalvlp kdsiplpvik epnqyvqtil
      121 khlqnlfvpr qeqgssqirl clqvlraiqk laresslmar etwevlllfl lqindillap
      181 ptvqggiaen laekligvlf evwllactrc fptppywkta kemvanwrhh pavveqwskv
      241 icaltsrllr ftygpsfpaf kvpdedasli ppemdnecva qtwfrflhml snpvdlsnpa
      301 iisstpkfqe qflnvsgmpq elnqypclkh lpqifframr gisclvdafl gisrprsdsa
      361 pptpvnrlsm pqsaavsttp phnrrhravt vnkatmktst vstahaskvq hqtsstspls
      421 spnqtssepr plpaprrpkv nsilnlfgsw lfdaafvhck lhnginrdss mtasfiqill
      481 sykssittqa smefrrkgsq mstdtmvsnp mfdasefpdn yeagraeacg tlcrifcskk
      541 tgeeilpayl srfymlliqg lqindyvchp vlasvilnsp plfccdlkgi dvvvpyfisa
      601 letilpdrel skfksyvnpt elrrssinil lsllplphhf gtvksevvle gkfsnddsss
      661 ydkpitflsl klrlvnilig alqtetdpnn tqmilgamln ivqdsallea igcqmemggg
      721 ennlkshsrt nsgissasgg stepttpdse rpaqallrdy alntdsaagl lirsihlvtq
      781 rlnsqwrqdm sislaalell sglakvkvmv dsgdrkrais svctyivyqc srpaplhsrd
      841 lhsmivaafq clcvwltehp dmldekdclk evleivelgi sgsksknneq evkykgdkep
      901 npasmrvkda aeatltcimq llgafpspsg paspcslvne ttlikysrlp tinkhsfryf
      961 vldnsvilam leqplgneqn dffpsvtvlv rgmsgrlawa qqlcllprga kanqklfvpe
     1021 prpvpkndvg fkysvkhrpf peevdkipfv kadlsipdlh eivteeleer heklrsgmaq
     1081 qiayeihleq qseeelqkrs fpdpvtdckp pppaqefqta rlflshfgfl slealkepan
     1141 srlpphlial dstipgffdd igyldllpcr pfdtvfifym kpgqktnqei lknvessrtv
     1201 qphfleflls lgwsvdvgrh pgwtghvsts wsinccddge gsqqevisse digasifngq
     1261 kkvlyyadal teiafvvpsp vesltdsles nisdqdsdsn mdlmpgilkq psltlelfpn
     1321 htdnlnssqr lspssrmrkl pqgrpvpplg petrvsvvwv eryddienfp lselmteist
     1381 gvettansst slrsttleke vpvifihpln tglfrikiqg atgkfnmvip lvdgmivsrr
     1441 algflvrqtv inicrrkrle sdsyspphvr rkqkitdivn kyrnkqlepe fytslfqevg
     1501 lkncss
//
LOCUS       XP_054207957             510 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 125 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054207957
VERSION     XP_054207957.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351982.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..510
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..510
                     /product="coiled-coil domain-containing protein 125
                     isoform X2"
                     /calculated_mol_wt=58399
     CDS             1..510
                     /gene="CCDC125"
                     /gene_synonym="KENAE"
                     /coded_by="XM_054351982.1:78..1610"
                     /db_xref="GeneID:202243"
                     /db_xref="HGNC:HGNC:28924"
                     /db_xref="MIM:613781"
ORIGIN      
        1 mskvarssse sdvqlwetee ddmtegdlgy glgrkpggiy eiefshrsrk rsdgknfspp
       61 pfprkgeern easfqyskhk sqqdtfpqvs risnyrrqss tdsnselsne elrqclnetl
      121 eevemlktel easqrqlrgk eealkilqsm ailgkatsht qavlqktmeq nrslekeina
      181 lqweiefdhn rfknieeswi qkydrlncen avlkenlkvk teeikmlksd navlnqryle
      241 alamldikqq kmaqenmccd ksgfaeasgl elavlgaclc hgpggnpcsc armaastrkl
      301 llqlkqelei lqkskeeayv madafriafe qqlmrkndqa lqltqmdkmh kkatkwmnwk
      361 hlkedgfpsp rskktfgqrl lgmlpsenss krmedqdspq evlkmlidll ndkeealahq
      421 rkvsymlara ledkdtasne nkeknpiken fpfnnpwrkt sefsvlgdpi hssvcilnsv
      481 gcicsiqhsq idpnyrtlkr shslpssiif
//
LOCUS       XP_054208786             537 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA1-A complex subunit RAP80 isoform X3 [Homo sapiens].
ACCESSION   XP_054208786
VERSION     XP_054208786.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352811.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..537
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..537
                     /product="BRCA1-A complex subunit RAP80 isoform X3"
                     /calculated_mol_wt=59281
     CDS             1..537
                     /gene="UIMC1"
                     /gene_synonym="RAP80; X2HRIP110"
                     /coded_by="XM_054352811.1:154..1767"
                     /db_xref="GeneID:51720"
                     /db_xref="HGNC:HGNC:30298"
                     /db_xref="MIM:609433"
ORIGIN      
        1 mprrkkkvke vsesrnlekk dvettssvsv krkrrledaf ivisdsdgee pkeenglqkt
       61 ktkqsnrakc lakrkiaqmt eeeqfalalk mseqearevn sqeeeeeell rkaiaeslns
      121 crpsdasatr srplatgpss qshqekttds gltegiwqlv ppslfkgshi sqgneaeere
      181 epwdhtekte eepvsgssgs wdqssqpvfe nvnvksfdrc tghsaehtqc gkpqestgrg
      241 saflkavqgs gdtsrhclpt ladakglqdt ggtvnyfwgi pfcpdgvdpn qytkvilcql
      301 evyqkslkma qrqllnkkgf gepvlprpps liqnecgqge qaseknecis edmgdedkee
      361 rqesrasdwh sktkdfqess ikslkeklll eeepttshgq ssqgiveets eegnsvpasq
      421 svaaltskrs lvlmpessae eitvcpetql sssetfdler evspgsrdil dgvriimadk
      481 evgnkedaek evaistfsss nqvscplcdq cfpptkierh amycnglmee dtestgs
//
LOCUS       XP_054211402             959 aa            linear   PRI 20-MAR-2023
DEFINITION  ras-related protein Rab-44 isoform X3 [Homo sapiens].
ACCESSION   XP_054211402
VERSION     XP_054211402.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355427.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..959
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..959
                     /product="ras-related protein Rab-44 isoform X3"
                     /calculated_mol_wt=103888
     CDS             1..959
                     /gene="RAB44"
                     /gene_synonym="dJ431A14.3; RASD3; RASL13"
                     /coded_by="XM_054355427.1:103..2982"
                     /db_xref="GeneID:401258"
                     /db_xref="HGNC:HGNC:21068"
ORIGIN      
        1 metgqrtsrk vrklgsnrrr qtrepadgeg aavapepesw ssqaaaelqa ffqdcgaker
       61 gfvtredlav akfsflgske esemifdwvd verkghlsle efssglknif gssqsphrlr
      121 rrkplpskrv sattsfpale eadaeekeaf lafmeqlgtg hllpkqmeiw qlwgqlrqee
      181 pqlagnlagf lakmtsrlqe aqadkealel tlrkrdsdhh revqqlyeem eqqirqekqq
      241 lqaesdsrgl altsqmqdvl eakerevqrl aegqreleaq lshlrsthqe aasenqqlqe
      301 akrdlagrle evrgqlqvtr grldaargrv swqveeklsf pgagektpdp qaaspeeaas
      361 peeaplpglf gdnddwdqll snfgspphga lqlcwspppt pratsgpqtp rvvrqisise
      421 pqaflfgqep ssdpdgaprt ppgvtfsakd nkgvdpheqd iraeqpveph dpdpnqepgs
      481 tpegrllwgl sgslvapafk vlipledgpp ppanspppqa pagsskqiqa sdpddkgpgs
      541 wappsgaqpg agagpqeptq tpptmteret qpgpspttal tgvgpakppr qrdalqqdlh
      601 atgseprlgt qraraltlgp aepfqglefv gpvpterleq gqagpavqeg lpeglreahg
      661 qvlglgelsa fphqeleeep rseegkqegr ggqdlsseqs eqsveahgle tahselpqqd
      721 sllvslpsat pqaqveaegp tpgksapprg spprgaqpga gagpqeptqt pptmaeqeaq
      781 prpslttaha eeqgpphsre praesrledp gmdsreaglt pspgdpmagg gpqanpdylf
      841 hviflgdsnv gktsflhllh qnsfatglta tvaykvphqq ctlqfrclre lmvktskypl
      901 mwpmgrpeqv lcwldllmts srlgshglar shlgqvgyft qnvfvecgkl gsqvpefks
//
LOCUS       XP_054212112             392 aa            linear   PRI 20-MAR-2023
DEFINITION  ral guanine nucleotide dissociation stimulator-like 2 isoform X19
            [Homo sapiens].
ACCESSION   XP_054212112
VERSION     XP_054212112.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356137.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..392
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..392
                     /product="ral guanine nucleotide dissociation
                     stimulator-like 2 isoform X19"
                     /calculated_mol_wt=42605
     CDS             1..392
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /coded_by="XM_054356137.1:221..1399"
                     /db_xref="GeneID:5863"
                     /db_xref="HGNC:HGNC:9769"
                     /db_xref="MIM:602306"
ORIGIN      
        1 mppprssrrl ragtlealvr hlldtrtsgt dvsfmsafla thraftstpa llglmadrle
       61 aleshptdel erttevaisv lstwlashpe dfgseakgql drlesfllqt gyaagkgvgg
      121 gsadlirnlr srvdpqapdl pkplalpgdp padptdvlvf ladhlaeqlt lldaelflnl
      181 ipsqclgglw ghrdrpghsh lcpsvratvt qfnkvagavv ssvlgatstg egpgevtirp
      241 lrppqrarll ekwirvaeec rllrnfssvy avvsalqssp ihrlraawge atrdslrvfs
      301 slcqifseed nysqsrellv qevklqsple phskkaprsg srgggvvpyl gtflkdlvml
      361 daaskdelen gyinfdkrrk fegsfpgvcs pf
//
LOCUS       XP_054212950             257 aa            linear   PRI 20-MAR-2023
DEFINITION  dnaJ homolog subfamily B member 6 isoform X3 [Homo sapiens].
ACCESSION   XP_054212950
VERSION     XP_054212950.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356975.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..257
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..257
                     /product="dnaJ homolog subfamily B member 6 isoform X3"
                     /calculated_mol_wt=28579
     CDS             1..257
                     /gene="DNAJB6"
                     /gene_synonym="DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D;
                     LGMD1E; LGMDD1; MRJ; MSJ-1"
                     /coded_by="XM_054356975.1:168..941"
                     /db_xref="GeneID:10049"
                     /db_xref="HGNC:HGNC:14888"
                     /db_xref="MIM:611332"
ORIGIN      
        1 mvdyyevlgv qrhaspedik kayrklalkw hpdknpenke eaerkfkqva eayevlsdak
       61 krdiydkygk eglngggggg shfdspfefg ftfrnpddvf reffggrdpf sfdffedpfe
      121 dffgnrrgpr gsrsrgtgsf fsafsgfpsf gsgfssfdtg ftsfgslghg gltsfsstsf
      181 ggsgmgnfks iststkmvng rkittkrive ngqervevee dgqlksltin glkeggkrkk
      241 qkqreeskkk kstkgnh
//
LOCUS       XP_054213541             226 aa            linear   PRI 20-MAR-2023
DEFINITION  V-set and transmembrane domain-containing protein 2A isoform X3
            [Homo sapiens].
ACCESSION   XP_054213541
VERSION     XP_054213541.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357566.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..226
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..226
                     /product="V-set and transmembrane domain-containing
                     protein 2A isoform X3"
                     /calculated_mol_wt=24854
     CDS             1..226
                     /gene="VSTM2A"
                     /gene_synonym="VSTM2"
                     /coded_by="XM_054357566.1:357..1037"
                     /db_xref="GeneID:222008"
                     /db_xref="HGNC:HGNC:28499"
ORIGIN      
        1 mmgiflvyvg fvffsvlyvq qglssqakft efprnvtate gqnvemscaf qsgsasvyle
       61 iqwwflrgpe dldpgaegag aqvellpdrd pdsdgtkist vkvqgndish klqiskvrkk
      121 deglyecrvt danygelqeh kaqaylkvna nsharrmqaf easpmwlqdm kprknvsaai
      181 pssihgsanq rthstsspqv vakipkqspq svhaktfmst raklas
//
LOCUS       XP_054214868             159 aa            linear   PRI 20-MAR-2023
DEFINITION  single-stranded DNA-binding protein, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_054214868
VERSION     XP_054214868.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358893.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..159
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..159
                     /product="single-stranded DNA-binding protein,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=18427
     CDS             1..159
                     /gene="SSBP1"
                     /gene_synonym="Mt-SSB; mtSSB; OPA13; SOSS-B1; SSBP"
                     /coded_by="XM_054358893.1:227..706"
                     /db_xref="GeneID:6742"
                     /db_xref="HGNC:HGNC:11317"
                     /db_xref="MIM:600439"
ORIGIN      
        1 mfrrpvlqvl rqfvrheset ttslvlersl nrvhllgrvg qdpvlrqveg knpvtifsla
       61 tnemwrsgds evyqlgdvsq kttwhrisvf rpglrdvayq yvkkgsriyl egkidygeym
      121 dknnvrrqat tiiagkklvk iavffffsfs flkawlhcn
//
LOCUS       XP_054215188             412 aa            linear   PRI 20-MAR-2023
DEFINITION  sugar phosphate exchanger 3 isoform X1 [Homo sapiens].
ACCESSION   XP_054215188
VERSION     XP_054215188.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359213.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..412
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..412
                     /product="sugar phosphate exchanger 3 isoform X1"
                     /calculated_mol_wt=45081
     CDS             1..412
                     /gene="SLC37A3"
                     /gene_synonym="SPX3"
                     /coded_by="XM_054359213.1:186..1424"
                     /db_xref="GeneID:84255"
                     /db_xref="HGNC:HGNC:20651"
                     /db_xref="MIM:619137"
ORIGIN      
        1 mawpnvfqrg sllsqfshhh vvvflltffs ysllhasrkt fsnvkvsise qwtpsafnts
       61 velpveiwss nhlfpsaeka tlflgtldti flfsyavglf isgivgdrln lrwvlsfgmc
      121 ssalvyaflv tasvqfaggi viffgllvsp eeiglsgiea eenfeedshr plinggened
      181 eyepnysiqd dssvaqvkai sfyqacclpg vipyslayac lklvnysfff wlpfylsnnf
      241 gwkeaeadkl siwydvggii ggtlqgfisd vlqkrapvla lslllavgsl igysrspndk
      301 sinallmtvt vfsvsdpgqa rmdvgfllfh shdklyncvy lainsegnil sraketgshi
      361 egvtgarete rtmsatsgpl glrvcpnlgl srssslildc qaslntashl rc
//
LOCUS       XP_054216074             865 aa            linear   PRI 20-MAR-2023
DEFINITION  fibroblast growth factor receptor 1 isoform X28 [Homo sapiens].
ACCESSION   XP_054216074
VERSION     XP_054216074.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360099.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..865
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..865
                     /product="fibroblast growth factor receptor 1 isoform X28"
                     /calculated_mol_wt=96758
     CDS             1..865
                     /gene="FGFR1"
                     /gene_synonym="bFGF-R-1; BFGFR; CD331; CEK; ECCL; FGFBR;
                     FGFR-1; FLG; FLT-2; FLT2; HBGFR; HH2; HRTFDS; KAL2; N-SAM;
                     OGD"
                     /coded_by="XM_054360099.1:150..2747"
                     /db_xref="GeneID:2260"
                     /db_xref="HGNC:HGNC:3688"
                     /db_xref="MIM:136350"
ORIGIN      
        1 mearvslkrr ieltveypwr cgalsptsnc rtgmwswkcl lfwavlvtat lctarpsptl
       61 peqaqpwgap vevesflvhp gdllqlrcrl rddvqsinwl rdgvqlaesn rtritgeeve
      121 vqdsvpadsg lyacvtssps gsdttyfsvn vsdalpssed ddddddssse eketdntkpn
      181 rmpvapywts pekmekklha vpaaktvkfk cpssgtpnpt lrwlkngkef kpdhriggyk
      241 vryatwsiim dsvvpsdkgn ytciveneyg sinhtyqldv versphrpil qaglpanktv
      301 algsnvefmc kvysdpqphi qwlkhievng skigpdnlpy vqilktagvn ttdkemevlh
      361 lrnvsfedag eytclagnsi glshhsawlt vlealeerpa vmtsplylei iiyctgafli
      421 scmvgsvivy kmksgtkksd fhsqmavhkl aksiplrrqv tvsadssasm nsgvllvrps
      481 rlsssgtpml agvseyelpe dprwelprdr lvlgkplgeg cfgqvvlaea igldkdkpnr
      541 vtkvavkmlk sdatekdlsd lisememmkm igkhkniinl lgactqdgpl yviveyaskg
      601 nlreylqarr ppgleycynp shnpeeqlss kdlvscayqv argmeylask kcihrdlaar
      661 nvlvtednvm kiadfglard ihhidyykkt tngrlpvkwm apealfdriy thqsdvwsfg
      721 vllweiftlg gspypgvpve elfkllkegh rmdkpsnctn elymmmrdcw havpsqrptf
      781 kqlvedldri valtsnqvlh pdltthllpl rcfwkvrkrr cllrgqephp csrgagqrvk
      841 aqqpstmdgf lqgnrwgwag egapt
//
LOCUS       XP_054217346             562 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-(1,3)-fucosyltransferase 10 isoform X2 [Homo sapiens].
ACCESSION   XP_054217346
VERSION     XP_054217346.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361371.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..562
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..562
                     /product="alpha-(1,3)-fucosyltransferase 10 isoform X2"
                     /calculated_mol_wt=65346
     CDS             1..562
                     /gene="FUT10"
                     /gene_synonym="FUCTX"
                     /coded_by="XM_054361371.1:357..2045"
                     /db_xref="GeneID:84750"
                     /db_xref="HGNC:HGNC:19234"
                     /db_xref="MIM:616931"
ORIGIN      
        1 mvriqrrkll asclcvtatv fllvtlqvmv elgkferkef kssslqdght kmeeapthln
       61 sflkkegltf nrkrkwelds ypimlwwspl tgetgrlgqc gadacfftin rtylhhhmtk
      121 aflfygtdfn idslplprka hhdwavfhee spknnyklfh kpvitlfnyt atfsrhshlp
      181 lttqylesie vlkslrylvp lqsknklrkr laplvyvqsd cdppsdrdsy vrelmtyiev
      241 dsygeclrnk dlpqqlknpa smdadgfyri iaqykfilaf enavcddyit ekfwrplklg
      301 vvpvyygsps itdwlpsnks ailvsefshp relasyirrl dsddrlyeay vewklkgeis
      361 nqrlltalre rkwgvqdvnq dnyidafecm vctkvwanir lqekglppkr weaedthlsc
      421 peptvfafsp lrtpplsslr emwissfeqs kkeaqalrlw rihhqtrkqq pglqsqtlhs
      481 pdyggfatrl gsnslgsrvr rythqtmeds ppdweatawa pesdttltrl wtihhqtgkq
      541 qpglqnaqmr rglmklrwsl gp
//
LOCUS       XP_054220243             506 aa            linear   PRI 20-MAR-2023
DEFINITION  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform
            X26 [Homo sapiens].
ACCESSION   XP_054220243
VERSION     XP_054220243.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364268.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..506
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..506
                     /product="ras-specific guanine nucleotide-releasing factor
                     RalGPS1 isoform X26"
                     /calculated_mol_wt=56113
     CDS             1..506
                     /gene="RALGPS1"
                     /gene_synonym="RALGEF2; RALGPS1A"
                     /coded_by="XM_054364268.1:297..1817"
                     /db_xref="GeneID:9649"
                     /db_xref="HGNC:HGNC:16851"
                     /db_xref="MIM:614444"
ORIGIN      
        1 mykrnglmas vlvtsatpqg ssssdslegq scdyasksyd avvfdvlkvt peefasqitl
       61 mdipvfkaiq peelascgws kkekhslapn vvaftrrfnq kllelnnlhs lmsvvsalqs
      121 apifrltktw allnrkdktt fekldylmsk ednykrtrey irslkmvpsi pylgiylldl
      181 iyidsaypas gsimeneqrs nqmnnilrii adlqvscsyd hlttlphvqk ylksvryiee
      241 lqkfveddny klslriepgs ssprlvsske dlagpsagsg sarfsrrptc pdtsvagslp
      301 tppvprhrks hslgnkgrly atlgpnwrvp vrnsprtrsc vysptgpcic slgnsaavpt
      361 megplrrktl lkegrkpals swtrywvils gstllyygak slrgtdrkhy kstpgkkvsi
      421 vgwmvqlpdd pehpdifqln npdkgnvykf qtgsrfhail whkhlddack snrpqeagaa
      481 pgptgtdshe vdhleggagk eagpca
//
LOCUS       XP_054220406             311 aa            linear   PRI 20-MAR-2023
DEFINITION  translation initiation factor IF-2-like [Homo sapiens].
ACCESSION   XP_054220406
VERSION     XP_054220406.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364431.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..311
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..311
                     /product="translation initiation factor IF-2-like"
                     /calculated_mol_wt=31979
     CDS             1..311
                     /gene="LOC124900276"
                     /coded_by="XM_054364431.1:4231..5166"
                     /db_xref="GeneID:124900276"
ORIGIN      
        1 mkaasvpaar krrlfvktek enegklhtcp tlhlagrpfa tgvhsrpqts qlpaprapdh
       61 tapapgtpdq ppapgapdqp lrlepqttqp peprapdqpl hpepqptqpp apgapdhtap
      121 ctrsprshsp carsprpapv prapgpqeaa lllahsgage gacgphcclp gwgwgwgsrv
      181 pqgwgdgaas mvlgtyqhla ecgeasseae agvclassgp wphigpltaq pvprlqqgsv
      241 gthglvlgla ralveagtgp alllprcvrw aslcaslrrp mpprgragnl lweggdvsma
      301 pgvasgelgl a
//
LOCUS       XP_054183244             258 aa            linear   PRI 20-MAR-2023
DEFINITION  spindlin-2A isoform X1 [Homo sapiens].
ACCESSION   XP_054183244
VERSION     XP_054183244.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327269.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..258
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..258
                     /product="spindlin-2A isoform X1"
                     /calculated_mol_wt=29004
     CDS             1..258
                     /gene="SPIN2A"
                     /gene_synonym="dJ323P24.1; DXF34; SPIN2; TDRD25"
                     /coded_by="XM_054327269.1:18..794"
                     /db_xref="GeneID:54466"
                     /db_xref="HGNC:HGNC:20694"
                     /db_xref="MIM:300621"
ORIGIN      
        1 mktpnaqeae gqqtraaagr atgsanmtkk kvsqkkqrgr pssqpcrniv gcrishgwke
       61 gdepitqwkg tvldqvpinp slylvkydgi dcvyglelhr dervlslkil sdrvasshis
      121 danlantiig kavehmfege hgskdewrgm vlaqapimka wfyityekdp vlymyqlldd
      181 ykegdlrimp essesppter epggvvdgli gkhveytked gskrigmvih qvetkpsvyf
      241 ikfdddfhiy vydlvkks
//
LOCUS       XP_054183410            1536 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Shroom4 isoform X1 [Homo sapiens].
ACCESSION   XP_054183410
VERSION     XP_054183410.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327435.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1536
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1536
                     /product="protein Shroom4 isoform X1"
                     /calculated_mol_wt=169477
     CDS             1..1536
                     /gene="SHROOM4"
                     /gene_synonym="MRXSSDS; SHAP; shrm4"
                     /coded_by="XM_054327435.1:177..4787"
                     /db_xref="GeneID:57477"
                     /db_xref="HGNC:HGNC:29215"
                     /db_xref="MIM:300579"
ORIGIN      
        1 menrpgsfqy vpvqlqggap wgftlkggle hcepltvski edggkaalsq kmrtgdelvn
       61 ingtplygsr qealilikgs frilklivrr rnapvsrphs whvakllegc peaattmhfp
      121 seafslswhs gcntsdvcvq wcplsrhcst eksssigsme sleqpgqaty eshllpidqn
      181 mypnqrdsay ssfsassnas dcalslrpee pastdcimqg pgptkapsgr pnvaetsggs
      241 rrtngghltp ssqmssrpqe gyqsgpakav rgppqppvrr dslqasraql lngeqrrase
      301 pvvplpqkek lslepvlpar npnrfcclsg hdqvtseghq ncefsqppes sqqgsehllm
      361 qastkavgsp kacdrassvd snplneasae lakasfgrpp hligptghrh sapeqllash
      421 lqhvhldtrg skgmelppvq dghqwtlspl hsshkgkksp cpptggthdq sskerktrqv
      481 ddrslvlghq sqsspphgea dghpsekgfl dpnrtsraas elanqqpsas gslvqqatdc
      541 ssttkaasgt eageegdsep kecsrmggrr sggtrgrsiq nrrkserfat nlrneiqrrk
      601 aqlqkskgpl sqlcdtkepv eetqeppesp pltasntsll ssckkppspr dklfnksmml
      661 rarsseclsq apeshesrtg legrispgqr pgqsslglnt wwkapdpsss dpekahahcg
      721 vrgghwrwsp ehnsqplvaa amegpsnpgd nkelkastaq agedaillpf adrrkffees
      781 skslstshlp gltthsnktf tqrpkpidqn fqpmssscre lrrhpmdqsy hsadqpyhat
      841 dqsyhsmspl qsetptysec faskglensm cckplhcgdf dyhrtcsysc svqgalvhdp
      901 ciycsgeicp allkrnmmpn cyncrchhhq circsvcyhn pqhsaledss lapgntwkpr
      961 kltvqefpgd kwnpitgnrk tsqsgsealk pswtpedecs tstfcctpgv paslrlslrd
     1021 rqgremahsk tsfswatpfh pclenpaldl ssyraissld llgdfkhalk kseetsvyee
     1081 gsslasmphp lrsrafsesh islapqstra wgqhrrelfs kgdetqsdll garkkafppp
     1141 rppppnweky rlfraaqqqk qqqqqqqqqq kqqeeeeeee eeeeeeeeee eeeeaeeeee
     1201 elppqyfsse tsgscalnpe evleqpqpls fghlegsrqg sqsvpaeqes falhssdflp
     1261 pirghlgsqp eqaqppcyyg igglwrtsgq eatesakqef qhfsppsgap giptsysayy
     1321 nisvakaell nklkdqpema eiglgeeevd helaqkkiql iesisrklsv lreaqrglle
     1381 dinansalge eveanlkavc ksnefekyhl fvgdldkvvn lllslsgrla rvenalnsid
     1441 seanqeklvl iekkqqltgq ladakelkeh vdrreklvfg mvsrylpqdq lqdyqhfvkm
     1501 ksaliieqre leekiklgee qlkclresll lgpsnf
//
LOCUS       XP_054183578            1790 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase WNK3 isoform X2 [Homo sapiens].
ACCESSION   XP_054183578
VERSION     XP_054183578.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327603.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1790
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1790
                     /product="serine/threonine-protein kinase WNK3 isoform X2"
                     /calculated_mol_wt=197199
     CDS             1..1790
                     /gene="WNK3"
                     /gene_synonym="PRKWNK3"
                     /coded_by="XM_054327603.1:368..5740"
                     /db_xref="GeneID:65267"
                     /db_xref="HGNC:HGNC:14543"
                     /db_xref="MIM:300358"
ORIGIN      
        1 matdsgdpas tedsekpdgi sfenrvpqva atltvearlk eknstfsasg etverkrffr
       61 ksvemteddk vaesspkder ikaamniprv dklpsnvlrg gqevkyeqcs kstseiskdc
      121 fkeknekeme eeaemkavat spsgrflkfd ielgrgafkt vykgldtetw vevawcelqd
      181 rkltkaeqqr fkeeaemlkg lqhpnivrfy dswesilkgk kcivlvtelm tsgtlktylk
      241 rfkvmkpkvl rswcrqilkg lqflhtrtpp iihrdlkcdn ifitgptgsv kigdlglatl
      301 mrtsfaksvi gtpefmapem yeehydesvd vyafgmcmle matseypyse cqnaaqiyrk
      361 vtsgikpasf nkvtdpevke iiegcirqnk serlsirdll nhaffaedtg lrvelaeedd
      421 csnsslalrl wvedpkklkg khkdneaief sfnletdtpe evayemvksg ffhesdskav
      481 aksirdrvtp ikktrekkpa gcleerrdsq cksmgnvfpq pqnttlplap aqqtgaecee
      541 tevdqhvrqq llqrkpqqhc ssvtgdnlse agaasvihsd tssqpsvays snqtmgsqmv
      601 snipqaevnv pgqiyssqql vghyqqvsgl qkhskltqpq ilplvqgqst vlpvhvlgpt
      661 vvsqpqvspl tvqkvpqikp vsqpvgaeqq aallkpdlvr slnqdvattk envsspdnps
      721 gngkqdrikq rrascprpek gtkfqltvlq vstsgdnmve cqlethnnkm vtfkfdvdgd
      781 apediadymv ednfvlesek ekfveelrai vgqaqeilhv hfateratgv dsitvdsnss
      841 qtgsseqvqi nststqtsne sapqsspvgr wrfcinqtir nretqsppsl qhsmsavpgr
      901 hplpspknts nkeisrdtll tiennpchra lftsksehkd vvdgkiseca svetkqpail
      961 yqvednrqim apvtnsssys ttsvravpae cegltkqasi fipvypchqt asqadalmsh
     1021 pgestqtsgn slttlafdqk pqtlsvqqpa mdaefisqeg ettvnteass pktviptqtp
     1081 glepttlqpt tvlesdgerp pklefadnri ktldeklrnl lyqehsissi ypesqkdtqs
     1141 idspfsssae dtlscpvtev iaishcgikd spvqspnfqq tgskllsnva asqpanisvf
     1201 krdlnvitsv pselclhems sdaslpgdpe aypaavssgg aihlqtgggy fglsftcpsl
     1261 knpiskkswt rklkswayrl rqstsffkrs kvrqveteem rsaiapdpip ltrestadtr
     1321 alnrckamsg sfqrgrfqvi tipqqqsakm tsfgiehisv fsetnhssee afiktaksql
     1381 veiepatqnp ktsfsyeklq alqetckenk gvpkqgdnfl sfsaacetdv ssvtpekefe
     1441 etsatgssmq sgselllker eiltagkqps sdsefsasla gsgksvaktg pesnqclphh
     1501 eeqayaqtqs slfyspsspm ssddeseied edlkvelqrl rekhiqevvn lqtqqnkelq
     1561 elyerlrsik dsktqsteip lppasprrpr sfksklrsrp qslthvdngi vatdplcves
     1621 naascqqspa skkgmftddl hklvddwtke avgnslikps lnqlkqsqhk letenwnkvs
     1681 entpstmgyt stwisslsqi rgavptslpq glslpsfpgp lssygmphvc qynavagagy
     1741 pvqwvgisgt tqqsvvipaq sggpfqpgmn mqafptssvq npatippgpk
//
LOCUS       XP_054183941             168 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 164 isoform X6 [Homo sapiens].
ACCESSION   XP_054183941
VERSION     XP_054183941.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327966.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..168
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..168
                     /product="transmembrane protein 164 isoform X6"
                     /calculated_mol_wt=19116
     CDS             1..168
                     /gene="TMEM164"
                     /gene_synonym="bB360B22.3"
                     /coded_by="XM_054327966.1:6962..7468"
                     /db_xref="GeneID:84187"
                     /db_xref="HGNC:HGNC:26217"
ORIGIN      
        1 mifllacppc rgaivvfklq mhmlngalla llfpvvntrl lpfeleiyyi qhvmlyvvpi
       61 yllwkggayt peplssfrwa llstglmffy hfsvlqilgl vtevnlnnml cpaisdpfyg
      121 pwyriwasgh qtlmtmthgk lvilfsymag plckylldll rlpakkid
//
LOCUS       NP_001333437            1171 aa            linear   PRI 22-MAR-2023
DEFINITION  SAM and SH3 domain-containing protein 1 isoform 5 [Homo sapiens].
ACCESSION   NP_001333437 XP_016866095
VERSION     NP_001333437.1
DBSOURCE    REFSEQ: accession NM_001346508.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1171)
  AUTHORS   Liu JW, Habulieti X, Wang RR, Ma DL and Zhang X.
  TITLE     Two novel SASH1 mutations in Chinese families with dyschromatosis
            universalis hereditaria
  JOURNAL   J Clin Lab Anal 35 (6), e23803 (2021)
   PUBMED   34028087
  REMARK    GeneRIF: Two novel SASH1 mutations in Chinese families with
            dyschromatosis universalis hereditaria.
REFERENCE   2  (residues 1 to 1171)
  AUTHORS   Araki Y, Okamura K, Saito T, Matsumoto K, Natsuga K, Nishimoto J,
            Funasaka Y, Togawa Y and Suzuki T.
  TITLE     Five novel mutations in SASH1 contribute to lentiginous phenotypes
            in Japanese families
  JOURNAL   Pigment Cell Melanoma Res 34 (2), 174-178 (2021)
   PUBMED   32981204
  REMARK    GeneRIF: Five novel mutations in SASH1 contribute to lentiginous
            phenotypes in Japanese families.
REFERENCE   3  (residues 1 to 1171)
  AUTHORS   Burgess JT, Bolderson E, Adams MN, Duijf PHG, Zhang SD, Gray SG,
            Wright G, Richard DJ and O'Byrne KJ.
  TITLE     SASH1 is a prognostic indicator and potential therapeutic target in
            non-small cell lung cancer
  JOURNAL   Sci Rep 10 (1), 18605 (2020)
   PUBMED   33122723
  REMARK    GeneRIF: SASH1 is a prognostic indicator and potential therapeutic
            target in non-small cell lung cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1171)
  AUTHORS   Liu S, Jiang S, Huang L and Yu Y.
  TITLE     Expression of SASH1 in Preeclampsia and Its Effects on Human
            Trophoblast
  JOURNAL   Biomed Res Int 2020, 5058260 (2020)
   PUBMED   33134379
  REMARK    GeneRIF: Expression of SASH1 in Preeclampsia and Its Effects on
            Human Trophoblast.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1171)
  AUTHORS   Jin Y and Qin X.
  TITLE     Paired like homeodomain 1 and SAM and SH3 domain-containing 1 in
            the progression and prognosis of head and neck squamous cell
            carcinoma
  JOURNAL   Int J Biochem Cell Biol 127, 105846 (2020)
   PUBMED   32905855
  REMARK    GeneRIF: Paired like homeodomain 1 and SAM and SH3
            domain-containing 1 in the progression and prognosis of head and
            neck squamous cell carcinoma.
REFERENCE   6  (residues 1 to 1171)
  AUTHORS   Wu C, Ma MH, Brown KR, Geisler M, Li L, Tzeng E, Jia CY, Jurisica I
            and Li SS.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
REFERENCE   7  (residues 1 to 1171)
  AUTHORS   Rimkus C, Martini M, Friederichs J, Rosenberg R, Doll D, Siewert
            JR, Holzmann B and Janssen KP.
  TITLE     Prognostic significance of downregulated expression of the
            candidate tumour suppressor gene SASH1 in colon cancer
  JOURNAL   Br J Cancer 95 (10), 1419-1423 (2006)
   PUBMED   17088907
  REMARK    GeneRIF: Downregulated expression of the candidate tumour
            suppressor gene SASH1 is associated with colon cancer
REFERENCE   8  (residues 1 to 1171)
  AUTHORS   Cheng J, Kapranov P, Drenkow J, Dike S, Brubaker S, Patel S, Long
            J, Stern D, Tammana H, Helt G, Sementchenko V, Piccolboni A,
            Bekiranov S, Bailey DK, Ganesh M, Ghosh S, Bell I, Gerhard DS and
            Gingeras TR.
  TITLE     Transcriptional maps of 10 human chromosomes at 5-nucleotide
            resolution
  JOURNAL   Science 308 (5725), 1149-1154 (2005)
   PUBMED   15790807
REFERENCE   9  (residues 1 to 1171)
  AUTHORS   Xing QH, Wang MT, Chen XD, Feng GY, Ji HY, Yang JD, Gao JJ, Qin W,
            Qian XQ, Wu SN and He L.
  TITLE     A gene locus responsible for dyschromatosis symmetrica hereditaria
            (DSH) maps to chromosome 6q24.2-q25.2
  JOURNAL   Am J Hum Genet 73 (2), 377-382 (2003)
   PUBMED   12815562
REFERENCE   10 (residues 1 to 1171)
  AUTHORS   Zeller C, Hinzmann B, Seitz S, Prokoph H, Burkhard-Goettges E,
            Fischer J, Jandrig B, Schwarz LE, Rosenthal A and Scherneck S.
  TITLE     SASH1: a candidate tumor suppressor gene on chromosome 6q24.3 is
            downregulated in breast cancer
  JOURNAL   Oncogene 22 (19), 2972-2983 (2003)
   PUBMED   12771949
  REMARK    GeneRIF: tumor suppressor gene possibly involved in tumorigenesis
            of breast and other solid cancers
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL033378.12 and AI632133.1.
            On Oct 18, 2016 this sequence version replaced XP_016866095.1.
            
            Summary: This gene encodes a scaffold protein involved in the TLR4
            signaling pathway that may stimulate cytokine production and
            endothelial cell migration in response to invading pathogens. The
            encoded protein has also been described as a potential tumor
            suppressor that may negatively regulate proliferation, apoptosis,
            and invasion of cancer cells, and reduced expression of this gene
            has been observed in multiple human cancers. Mutations in this gene
            may be associated with abnormal skin pigmentation in human
            patients. [provided by RefSeq, Oct 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.107550.1,
                                           SRR1803612.270196.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144120, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1171
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.3-q25.1"
     Protein         1..1171
                     /product="SAM and SH3 domain-containing protein 1 isoform
                     5"
                     /note="SAM and SH3 domain-containing protein 1;
                     proline-glutamate repeat-containing protein"
                     /calculated_mol_wt=128643
     Region          327..479
                     /region_name="SLY"
                     /note="Lymphocyte signaling adaptor protein; pfam12485"
                     /db_xref="CDD:432587"
     Region          481..537
                     /region_name="SH3_SASH1"
                     /note="Src homology 3 domain of SAM And SH3 Domain
                     Containing Protein 1; cd11967"
                     /db_xref="CDD:212900"
     Site            order(487,489,492,498,516..517,530,532..533)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212900"
     Region          557..622
                     /region_name="SAM_SASH1_repeat1"
                     /note="SAM domain of SASH1 proteins, repeat 1; cd09559"
                     /db_xref="CDD:188958"
     Region          768..>1010
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:427171"
     Region          1097..1166
                     /region_name="SAM_SASH1_repeat2"
                     /note="SAM domain of SASH1 proteins, repeat 2; cd09492"
                     /db_xref="CDD:188891"
     CDS             1..1171
                     /gene="SASH1"
                     /gene_synonym="CAPOK; dJ323M4.1; DUH; DUH1; SH3D6A"
                     /coded_by="NM_001346508.2:368..3883"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:23328"
                     /db_xref="HGNC:HGNC:19182"
                     /db_xref="MIM:607955"
ORIGIN      
        1 mpkpsreqsd deteesvkfk rlhklvnstr rvrkklirve emkkpstegg eehvfenspv
       61 ldersalysg vhkkplffdg spekppedds dslttspsss sldtwgagrk lvktfskges
      121 rglikppkkm gtffsypeee kaqkvsrslt egemkkglgs lshgvstdgv cfydnhrrrh
      181 hllvsleefq svrkqirlkk tdtnyscsra flcqrpsrkg vtsttcdlql lrqkgkgggs
      241 cgfpgrrvrg rtsvsefnit yvverslysh lnltqlvrpa sdrtlskaer qdlrrcllee
      301 deeakrkwaa tvdrctkrvl lrihqksrtc sfggfdltnr slhvgsnnsd pmgkegdfvy
      361 keviksptas rislgkkvks vketmrkrms kkysssvseq dsgldgmpgs pppsqpdpeh
      421 ldkpklkagg sveslrssls gqssmsgqtv sttdsstsnr esvksedgdd eeppyrgpfc
      481 grarvhtdft pspydtdslk lkkgdiidii skppmgtwmg llnnkvgtfk fiyvdvlsed
      541 eekpkrptrr rrkgrppqpk svedlldrin lkehmptflf ngyedldtfk lleeedldel
      601 nirdpehrav lltavellqe ydsnsdqsgs qekllvdsqg lsgcsprdsg cyessenlen
      661 gktrkaslls aksstepslk sfsrnqlgny ptlplmksgd alkqgqeegr lggglapdts
      721 kscdppgvtg lnknrrslpv sicrscetle gpqtvdtwpr shslddlqve pgaeqdvpte
      781 vtepppqivp evpqkttass tkaqpleqds avdnallltq skrfsepqkl ttkklegsia
      841 asgrglsppq clprnydaqp pgakhglart pleghrkghe fegthhplgt kegvdaeqrm
      901 qpkipsqppp vpakksrerl anglhpvpmg psgalpspda pclpvkrgsp asptspsdcp
      961 palaprplsg qapgsppstr pppwlselpe ntslqehgvk lgpaltrkvs cargvdletl
     1021 tenklhaegi dlteepysdk hgrcgipeal vqryaedldq perdvaanmd qirvkqlrkq
     1081 hrmaipsggl teicrkpvsp gcissvsdwl isiglpmyag tlstagfstl sqvpslshtc
     1141 lqeagiteer hirkllsaar lfklppgpea m
//
LOCUS       NP_001063                532 aa            linear   PRI 22-MAR-2023
DEFINITION  UDP-glucuronosyltransferase 1-6 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_001063
VERSION     NP_001063.2
DBSOURCE    REFSEQ: accession NM_001072.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 532)
  AUTHORS   Zheng XX, You YX, Zhao LL, Du Y, Xu SQ and Tang DQ.
  TITLE     Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma
            concentration of valproic acid in Chinese epilepsy patients
  JOURNAL   Pharmacogenomics 24 (3), 153-162 (2023)
   PUBMED   36718958
  REMARK    GeneRIF: Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on
            plasma concentration of valproic acid in Chinese epilepsy patients.
REFERENCE   2  (residues 1 to 532)
  AUTHORS   Song,C., Li,X., Zhang,H., Bao,J., Lu,W., Peng,Q. and Zhang,Y.
  TITLE     Impact of MDR1 and UGT Gene Polymorphisms on Sodium Valproate
            Plasma Concentration in Patients with Epilepsy
  JOURNAL   Clin Lab 68 (10) (2022)
   PUBMED   36250837
  REMARK    GeneRIF: Impact of MDR1 and UGT Gene Polymorphisms on Sodium
            Valproate Plasma Concentration in Patients with Epilepsy.
REFERENCE   3  (residues 1 to 532)
  AUTHORS   Nandith PB, Adiga U, Shenoy V and Adiga M N S.
  TITLE     UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in Pediatric
            Epileptic Patients on Sodium Valproate Monotherapy
  JOURNAL   Indian J Pediatr 88 (8), 764-770 (2021)
   PUBMED   33400134
  REMARK    GeneRIF: UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in
            Pediatric Epileptic Patients on Sodium Valproate Monotherapy.
REFERENCE   4  (residues 1 to 532)
  AUTHORS   Du Z, Xu H, Zhao P, Wang J, Xu Q and Liu M.
  TITLE     Influence of UGT2B7 and UGT1A6 polymorphisms on plasma
            concentration to dose ratio of valproic acid in Chinese epileptic
            children
  JOURNAL   Xenobiotica 51 (7), 859-864 (2021)
   PUBMED   34000957
  REMARK    GeneRIF: Influence of UGT2B7 and UGT1A6 polymorphisms on plasma
            concentration to dose ratio of valproic acid in Chinese epileptic
            children.
REFERENCE   5  (residues 1 to 532)
  AUTHORS   Kim,S.C. and Kim,M.G.
  TITLE     A meta-analysis of the influence of UGT1A6 genetic polymorphisms on
            valproic acid pharmacokinetics
  JOURNAL   Int J Clin Pharmacol Ther 57 (3), 144-151 (2019)
   PUBMED   30686291
  REMARK    GeneRIF: concentration-to-dose ratio for valproic acid monotherapy
            were significantly lower for UGT1A6 homozygous variants 541A>G and
            552A>C than for the wild type
REFERENCE   6  (residues 1 to 532)
  AUTHORS   Bosma PJ, Chowdhury JR, Huang TJ, Lahiri P, Elferink RP, Van Es HH,
            Lederstein M, Whitington PF, Jansen PL and Chowdhury NR.
  TITLE     Mechanisms of inherited deficiencies of multiple
            UDP-glucuronosyltransferase isoforms in two patients with
            Crigler-Najjar syndrome, type I
  JOURNAL   FASEB J 6 (10), 2859-2863 (1992)
   PUBMED   1634050
REFERENCE   7  (residues 1 to 532)
  AUTHORS   Ritter JK, Chen F, Sheen YY, Tran HM, Kimura S, Yeatman MT and
            Owens IS.
  TITLE     A novel complex locus UGT1 encodes human bilirubin, phenol, and
            other UDP-glucuronosyltransferase isozymes with identical carboxyl
            termini
  JOURNAL   J Biol Chem 267 (5), 3257-3261 (1992)
   PUBMED   1339448
REFERENCE   8  (residues 1 to 532)
  AUTHORS   Ritter JK, Crawford JM and Owens IS.
  TITLE     Cloning of two human liver bilirubin UDP-glucuronosyltransferase
            cDNAs with expression in COS-1 cells
  JOURNAL   J Biol Chem 266 (2), 1043-1047 (1991)
   PUBMED   1898728
REFERENCE   9  (residues 1 to 532)
  AUTHORS   Harding D, Jeremiah SJ, Povey S and Burchell B.
  TITLE     Chromosomal mapping of a human phenol UDP-glucuronosyltransferase,
            GNT1
  JOURNAL   Ann Hum Genet 54 (1), 17-21 (1990)
   PUBMED   2108603
REFERENCE   10 (residues 1 to 532)
  AUTHORS   Harding D, Fournel-Gigleux S, Jackson MR and Burchell B.
  TITLE     Cloning and substrate specificity of a human phenol
            UDP-glucuronosyltransferase expressed in COS-7 cells
  JOURNAL   Proc Natl Acad Sci U S A 85 (22), 8381-8385 (1988)
   PUBMED   3141926
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB014621.1, AY435141.1 and
            BE463503.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 30, 2004 this sequence version replaced NP_001063.1.
            
            Summary: This gene encodes a UDP-glucuronosyltransferase, an enzyme
            of the glucuronidation pathway that transforms small lipophilic
            molecules, such as steroids, bilirubin, hormones, and drugs, into
            water-soluble, excretable metabolites. This gene is part of a
            complex locus that encodes several UDP-glucuronosyltransferases.
            The locus includes thirteen unique alternate first exons followed
            by four common exons. Four of the alternate first exons are
            considered pseudogenes. Each of the remaining nine 5' exons may be
            spliced to the four common exons, resulting in nine proteins with
            different N-termini and identical C-termini. Each first exon
            encodes the substrate binding site, and is regulated by its own
            promoter. The enzyme encoded by this gene is active on phenolic and
            planar compounds. Alternative splicing in the unique 5' end of this
            gene results in two transcript variants. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant:  This variant (1) represents the longer
            transcript. Its first exon contains both the 5' UTR and the 5'
            coding sequence, as is typical of the UGT1A genes.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC011409.1, AY435141.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305139.11/ ENSP00000303174.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..532
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     Protein         1..532
                     /product="UDP-glucuronosyltransferase 1-6 isoform 1
                     precursor"
                     /EC_number="2.4.1.17"
                     /note="UDP glycosyltransferase 1 family, polypeptide A6;
                     UDP-glucuronosyltransferase 1A6; phenol-metabolizing
                     UDP-glucuronosyltransferase; UDP-glucuronosyltransferase
                     1-6; UDP-glucuronosyltransferase 1 family polypeptide A6s;
                     UDP-glucuronosyltransferase 1-F; UDP
                     glucuronosyltransferase 1 family, polypeptide A6;
                     UDP-glucuronosyltransferase 1-1; Bilirubin-specific UDPGT
                     isozyme 1; UDP-glucuronosyltransferase 1-A;
                     UDP-glucuronosyltransferase 1A1;
                     UDP-glucuronosyltransferase 1-3;
                     UDP-glucuronosyltransferase 1-C;
                     UDP-glucuronosyltransferase 1A3;
                     UDP-glucuronosyltransferase 1-5;
                     UDP-glucuronosyltransferase 1-E;
                     UDP-glucuronosyltransferase 1A5"
                     /calculated_mol_wt=57896
     sig_peptide     1..26
                     /calculated_mol_wt=2874
     mat_peptide     27..532
                     /product="UDP-glucuronosyltransferase 1-6 isoform 1"
                     /calculated_mol_wt=57896
     Region          27..523
                     /region_name="UDPGT"
                     /note="UDP-glucoronosyl and UDP-glucosyl transferase;
                     pfam00201"
                     /db_xref="CDD:278624"
     Site            order(37..38,40,201,204..205,209,240,308,371,373,375..376,
                     379)
                     /site_type="active"
                     /db_xref="CDD:340817"
     Site            order(37,308,371,373,375..376)
                     /site_type="active"
                     /note="TDP-binding site [active]"
                     /db_xref="CDD:340817"
     Site            38
                     /site_type="active"
                     /note="acceptor substrate-binding pocket [active]"
                     /db_xref="CDD:340817"
     Site            294
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P19224.2)"
     Site            346
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P19224.2)"
     Site            490..506
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P19224.2)"
     CDS             1..532
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /coded_by="NM_001072.4:116..1714"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS2507.1"
                     /db_xref="GeneID:54578"
                     /db_xref="HGNC:HGNC:12538"
                     /db_xref="MIM:606431"
ORIGIN      
        1 macllrsfqr isagvfflal wgmvvgdkll vvpqdgshwl smkdivevls drgheivvvv
       61 pevnlllkes kyytrkiypv pydqeelknr yqsfgnnhfa ersfltapqt eyrnnmivig
      121 lyfincqsll qdrdtlnffk eskfdalftd palpcgvila eylglpsvyl frgfpcsleh
      181 tfsrspdpvs yiprcytkfs dhmtfsqrva nflvnllepy lfyclfskye elasavlkrd
      241 vdiitlyqkv svwllrydfv leyprpvmpn mvfigginck krkdlsqefe ayinasgehg
      301 ivvfslgsmv seipekkama iadalgkipq tvlwrytgtr psnlanntil vkwlpqndll
      361 ghpmtrafit hagshgvyes icngvpmvmm plfgdqmdna krmetkgagv tlnvlemtse
      421 dlenalkavi ndksykenim rlsslhkdrp vepldlavfw vefvmrhkga phlrpaahdl
      481 twyqyhsldv igfllavvlt vafitfkcca ygyrkclgkk grvkkahksk th
//
LOCUS       NP_955772                242 aa            linear   PRI 23-MAR-2023
DEFINITION  myelin proteolipid protein isoform 2 [Homo sapiens].
ACCESSION   NP_955772
VERSION     NP_955772.1
DBSOURCE    REFSEQ: accession NM_199478.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 242)
  AUTHORS   Yao L, Zhu Z, Zhang C, Tian W and Cao L.
  TITLE     PLP1 gene mutations cause spastic paraplegia type 2 in three
            families
  JOURNAL   Ann Clin Transl Neurol 10 (3), 328-338 (2023)
   PUBMED   36622199
  REMARK    GeneRIF: PLP1 gene mutations cause spastic paraplegia type 2 in
            three families.
REFERENCE   2  (residues 1 to 242)
  AUTHORS   Sarret C, Combes P, Micheau P, Gelot A, Boespflug-Tanguy O and
            Vaurs-Barriere C.
  TITLE     Novel neuronal proteolipid protein isoforms encoded by the human
            myelin proteolipid protein 1 gene
  JOURNAL   Neuroscience 166 (2), 522-538 (2010)
   PUBMED   20036320
  REMARK    GeneRIF: These results suggest for the first time that PLP may have
            functions in humans not only in oligodendrocytes but also in
            neurons and could be implicated in axono-glial communication
REFERENCE   3  (residues 1 to 242)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   4  (residues 1 to 242)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   5  (residues 1 to 242)
  AUTHORS   Wolf,N.I., van Spaendonk,R.M.L., Hobson,G.M. and Kamholz,J.
  TITLE     PLP1 Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301361
REFERENCE   6  (residues 1 to 242)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   7  (residues 1 to 242)
  AUTHORS   Pratt VM, Trofatter JA, Larsen MB, Hodes ME and Dlouhy SR.
  TITLE     New variant in exon 3 of the proteolipid protein (PLP) gene in a
            family with Pelizaeus-Merzbacher disease
  JOURNAL   Am J Med Genet 43 (3), 642-646 (1992)
   PUBMED   1376553
REFERENCE   8  (residues 1 to 242)
  AUTHORS   Simons,R., Alon,N. and Riordan,J.R.
  TITLE     Human myelin DM-20 proteolipid protein deletion defined by cDNA
            sequence
  JOURNAL   Biochem Biophys Res Commun 146 (2), 666-671 (1987)
   PUBMED   2441695
REFERENCE   9  (residues 1 to 242)
  AUTHORS   Kronquist KE, Crandall BF, Macklin WB and Campagnoni AT.
  TITLE     Expression of myelin proteins in the developing human spinal cord:
            cloning and sequencing of human proteolipid protein cDNA
  JOURNAL   J Neurosci Res 18 (3), 395-401 (1987)
   PUBMED   2449536
REFERENCE   10 (residues 1 to 242)
  AUTHORS   Diehl,H.J., Schaich,M., Budzinski,R.M. and Stoffel,W.
  TITLE     Individual exons encode the integral membrane domains of human
            myelin proteolipid protein
  JOURNAL   Proc Natl Acad Sci U S A 83 (24), 9807-9811 (1986)
   PUBMED   3467339
  REMARK    Erratum:[Hum Genet. 1991 Apr;86(6):617-8. PMID: 1709135]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA299940.1, AK292728.1 and
            BC095452.1.
            
            Summary: This gene encodes a transmembrane proteolipid protein that
            is the predominant component of myelin. The encoded protein may
            play a role in the compaction, stabilization, and maintenance of
            myelin sheaths, as well as in oligodendrocyte development and
            axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher
            disease and spastic paraplegia type 2. Alternatively splicing
            results in multiple transcript variants, including the DM20 splice
            variant. [provided by RefSeq, Feb 2015].
            
            Transcript Variant: This variant (2, also known as DM20) uses an
            alternate in-frame donor splice site compared to variant 1. It
            encodes a shorter isoform (2) than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.691996.1,
                                           SRR3476690.761496.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.2"
     Protein         1..242
                     /product="myelin proteolipid protein isoform 2"
                     /note="lipophilin; myelin proteolipid protein; major
                     myelin proteolipid protein"
                     /calculated_mol_wt=26143
     Region          5..238
                     /region_name="Myelin_PLP"
                     /note="Myelin proteolipid protein (PLP or lipophilin);
                     pfam01275"
                     /db_xref="CDD:426173"
     CDS             1..242
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD;
                     SPG2"
                     /coded_by="NM_199478.3:157..885"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS14514.1"
                     /db_xref="GeneID:5354"
                     /db_xref="HGNC:HGNC:9086"
                     /db_xref="MIM:300401"
ORIGIN      
        1 mglleccarc lvgapfaslv atglcffgva lfcgcgheal tgtekliety fsknyqdyey
       61 linvihafqy viygtasfff lygalllaeg fyttgavrqi fgdyktticg kglsatfvgi
      121 tyaltvvwll vfacsavpvy iyfntwttcq siafpsktsa sigslcadar mygvlpwnaf
      181 pgkvcgsnll sicktaefqm tfhlfiaafv gaaatlvsll tfmiaatynf avlklmgrgt
      241 kf
//
LOCUS       NP_001019907             534 aa            linear   PRI 26-MAR-2023
DEFINITION  CD276 antigen isoform a precursor [Homo sapiens].
ACCESSION   NP_001019907 XP_947368 XP_950958 XP_950960 XP_950962 XP_950963
            XP_950965 XP_950967
VERSION     NP_001019907.1
DBSOURCE    REFSEQ: accession NM_001024736.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 534)
  AUTHORS   Zhang D, Yu Y, Ding C, Zhang R, Duan T and Zhou Q.
  TITLE     Decreased B7-H3 promotes unexplained recurrent miscarriage via
            RhoA/ROCK2 signaling pathway and regulates the secretion of
            decidual NK cellsdagger
  JOURNAL   Biol Reprod 108 (3), 504-518 (2023)
   PUBMED   36504380
  REMARK    GeneRIF: Decreased B7-H3 promotes unexplained recurrent miscarriage
            via RhoA/ROCK2 signaling pathway and regulates the secretion of
            decidual NK cellsdagger.
REFERENCE   2  (residues 1 to 534)
  AUTHORS   Huang Y, Huang Z, Cai H, Zhuge L, Wang S, Yan D, Zhang X, An C, Niu
            L and Li Z.
  TITLE     Evaluation of serum B7-H3 expression, ultrasound and clinical
            characteristics to predict the risk of cervical lymph node
            metastases in papillary thyroid carcinoma by nomogram
  JOURNAL   J Clin Lab Anal 37 (1), e24811 (2023)
   PUBMED   36525343
  REMARK    GeneRIF: Evaluation of serum B7-H3 expression, ultrasound and
            clinical characteristics to predict the risk of cervical lymph node
            metastases in papillary thyroid carcinoma by nomogram.
REFERENCE   3  (residues 1 to 534)
  AUTHORS   Xiong M, Li W, Wang L, Chen L, Chen Z, Wei C, Zhang F, Chen J,
            Kazobinka G, Zhao J and Hou T.
  TITLE     Comprehensive analysis of alternative polyadenylation regulators
            concerning CD276 and immune infiltration in bladder cancer
  JOURNAL   BMC Cancer 22 (1), 1026 (2022)
   PUBMED   36175880
  REMARK    GeneRIF: Comprehensive analysis of alternative polyadenylation
            regulators concerning CD276 and immune infiltration in bladder
            cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 534)
  AUTHORS   Shao X, Zhan S, Quan Q, Shen Y, Chen S, Zhang X, Li R, Liu M and
            Cao L.
  TITLE     Clinical significance of B7-H3 and HER2 co-expression and
            therapeutic value of combination treatment in gastric cancer
  JOURNAL   Int Immunopharmacol 110, 108988 (2022)
   PUBMED   35777267
  REMARK    GeneRIF: Clinical significance of B7-H3 and HER2 co-expression and
            therapeutic value of combination treatment in gastric cancer.
REFERENCE   5  (residues 1 to 534)
  AUTHORS   Harland N, Maurer FB, Abruzzese T, Bock C, Montes-Mojarro IA, Fend
            F, Aicher WK, Stenzl A and Amend B.
  TITLE     Elevated Expression of the Immune Checkpoint Ligand CD276 (B7-H3)
            in Urothelial Carcinoma Cell Lines Correlates Negatively with the
            Cell Proliferation
  JOURNAL   Int J Mol Sci 23 (9), 4969 (2022)
   PUBMED   35563359
  REMARK    GeneRIF: Elevated Expression of the Immune Checkpoint Ligand CD276
            (B7-H3) in Urothelial Carcinoma Cell Lines Correlates Negatively
            with the Cell Proliferation.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 534)
  AUTHORS   Steinberger P, Majdic O, Derdak SV, Pfistershammer K, Kirchberger
            S, Klauser C, Zlabinger G, Pickl WF, Stockl J and Knapp W.
  TITLE     Molecular characterization of human 4Ig-B7-H3, a member of the B7
            family with four Ig-like domains
  JOURNAL   J Immunol 172 (4), 2352-2359 (2004)
   PUBMED   14764704
REFERENCE   7  (residues 1 to 534)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   8  (residues 1 to 534)
  AUTHORS   Ling V, Wu PW, Spaulding V, Kieleczawa J, Luxenberg D, Carreno BM
            and Collins M.
  TITLE     Duplication of primate and rodent B7-H3 immunoglobulin V- and
            C-like domains: divergent history of functional redundancy and exon
            loss
  JOURNAL   Genomics 82 (3), 365-377 (2003)
   PUBMED   12906861
REFERENCE   9  (residues 1 to 534)
  AUTHORS   Sun M, Richards S, Prasad DV, Mai XM, Rudensky A and Dong C.
  TITLE     Characterization of mouse and human B7-H3 genes
  JOURNAL   J Immunol 168 (12), 6294-6297 (2002)
   PUBMED   12055244
  REMARK    GeneRIF: A novel structural variant of B7-H3 (named B7-H3b) with
            four Ig-like domains, is the major isoform expressed in several
            tissues and results from gene duplication and differential
            splicing.
REFERENCE   10 (residues 1 to 534)
  AUTHORS   Chapoval AI, Ni J, Lau JS, Wilcox RA, Flies DB, Liu D, Dong H, Sica
            GL, Zhu G, Tamada K and Chen L.
  TITLE     B7-H3: a costimulatory molecule for T cell activation and IFN-gamma
            production
  JOURNAL   Nat Immunol 2 (3), 269-274 (2001)
   PUBMED   11224528
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC062581.1, AK075549.1 and
            CA420873.1.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Mar 4, 2006 this sequence version replaced
            XP_950958.1, XP_950960.1, XP_947368.1, XP_950962.1, XP_950963.1,
            XP_950965.1, XP_950967.1.
            
            Summary: The protein encoded by this gene belongs to the
            immunoglobulin superfamily, and thought to participate in the
            regulation of T-cell-mediated immune response. Studies show that
            while the transcript of this gene is ubiquitously expressed in
            normal tissues and solid tumors, the protein is preferentially
            expressed only in tumor tissues. Additionally, it was observed that
            the 3' UTR of this transcript contains a target site for miR29
            microRNA, and there is an inverse correlation between the
            expression of this protein and miR29 levels, suggesting regulation
            of expression of this gene product by miR29. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK075549.1, SRR3476690.986521.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318443.10/ ENSP00000320084.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..534
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     Protein         1..534
                     /product="CD276 antigen isoform a precursor"
                     /note="CD276 antigen; B7 homolog 3; costimulatory
                     molecule"
                     /calculated_mol_wt=54368
     sig_peptide     1..28
                     /note="/evidence=ECO:0000269|PubMed:15340161; propagated
                     from UniProtKB/Swiss-Prot (Q5ZPR3.1)"
                     /calculated_mol_wt=2885
     mat_peptide     29..534
                     /product="CD276 antigen. /id=PRO_0000045801"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5ZPR3.1)"
                     /calculated_mol_wt=54368
     Region          32..142
                     /region_name="IgV_B7-H3"
                     /note="Immunoglobulin Variable (IgV) domain of B7-H3, a
                     member of the B7 family of immune checkpoint molecules;
                     cd20934"
                     /db_xref="CDD:409528"
     Region          32..51
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409528"
     Region          32..35
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409528"
     Region          37..41
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409528"
     Region          44..51
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409528"
     Region          52..60
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409528"
     Region          62..72
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409528"
     Region          62..69
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409528"
     Region          74..86
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409528"
     Region          75..80
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409528"
     Region          89..127
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409528"
     Region          92..98
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409528"
     Region          104..110
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409528"
     Site            104
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5ZPR3.1)"
     Region          119..127
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409528"
     Region          128..130
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409528"
     Region          130..139
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409528"
     Region          131..142
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409528"
     Region          144..224
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          161..165
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          175..179
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            189
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5ZPR3.1)"
     Region          199..207
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Site            215
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5ZPR3.1)"
     Region          217..222
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          250..360
                     /region_name="IgV_B7-H3"
                     /note="Immunoglobulin Variable (IgV) domain of B7-H3, a
                     member of the B7 family of immune checkpoint molecules;
                     cd20934"
                     /db_xref="CDD:409528"
     Region          250..269
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409528"
     Region          250..253
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409528"
     Region          255..259
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409528"
     Region          262..269
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409528"
     Region          270..278
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409528"
     Region          280..290
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409528"
     Region          280..287
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409528"
     Region          292..304
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409528"
     Region          293..298
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409528"
     Region          301..304
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409528"
     Region          307..345
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409528"
     Region          310..316
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409528"
     Region          322..328
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409528"
     Site            322
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q5ZPR3.1)"
     Region          337..345
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409528"
     Region          346..348
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409528"
     Region          348..357
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409528"
     Region          349..360
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409528"
     Region          366..449
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          379..383
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          393..397
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            407
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q5ZPR3.1)"
     Region          424..428
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Site            433
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5ZPR3.1)"
     Region          435..440
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Site            467..487
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5ZPR3.1)"
     Region          498..534
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5ZPR3.1)"
     Site            525
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q5ZPR3.1)"
     CDS             1..534
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /coded_by="NM_001024736.2:133..1737"
                     /note="isoform a precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS32288.1"
                     /db_xref="GeneID:80381"
                     /db_xref="HGNC:HGNC:19137"
                     /db_xref="MIM:605715"
ORIGIN      
        1 mlrrrgspgm gvhvgaalga lwfcltgale vqvpedpvva lvgtdatlcc sfspepgfsl
       61 aqlnliwqlt dtkqlvhsfa egqdqgsaya nrtalfpdll aqgnaslrlq rvrvadegsf
      121 tcfvsirdfg saavslqvaa pyskpsmtle pnkdlrpgdt vtitcssyqg ypeaevfwqd
      181 gqgvpltgnv ttsqmaneqg lfdvhsilrv vlgangtysc lvrnpvlqqd ahssvtitpq
      241 rsptgavevq vpedpvvalv gtdatlrcsf spepgfslaq lnliwqltdt kqlvhsfteg
      301 rdqgsayanr talfpdllaq gnaslrlqrv rvadegsftc fvsirdfgsa avslqvaapy
      361 skpsmtlepn kdlrpgdtvt itcssyrgyp eaevfwqdgq gvpltgnvtt sqmaneqglf
      421 dvhsvlrvvl gangtysclv rnpvlqqdah gsvtitgqpm tfppealwvt vglsvclial
      481 lvalafvcwr kikqsceeen agaedqdgeg egsktalqpl khsdskeddg qeia
//
LOCUS       NP_006552                521 aa            linear   PRI 10-APR-2023
DEFINITION  CUGBP Elav-like family member 2 isoform 2 [Homo sapiens].
ACCESSION   NP_006552
VERSION     NP_006552.3
DBSOURCE    REFSEQ: accession NM_006561.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 521)
  AUTHORS   Wang J, Lai X and Peng X.
  TITLE     CircLIFR Inhibits Non-small Cell Lung Cancer Progression by Acting
            as a miR-429 Sponge to Enhance CELF2 Expression
  JOURNAL   Biochem Genet 61 (2), 725-741 (2023)
   PUBMED   36104590
  REMARK    GeneRIF: CircLIFR Inhibits Non-small Cell Lung Cancer Progression
            by Acting as a miR-429 Sponge to Enhance CELF2 Expression.
REFERENCE   2  (residues 1 to 521)
  AUTHORS   Tuo H, Liu R, Wang Y, Yang W and Liu Q.
  TITLE     Hypoxia-induced lncRNA MRVI1-AS1 accelerates hepatocellular
            carcinoma progression by recruiting RNA-binding protein CELF2 to
            stabilize SKA1 mRNA
  JOURNAL   World J Surg Oncol 21 (1), 111 (2023)
   PUBMED   36973749
  REMARK    GeneRIF: Hypoxia-induced lncRNA MRVI1-AS1 accelerates
            hepatocellular carcinoma progression by recruiting RNA-binding
            protein CELF2 to stabilize SKA1 mRNA.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 521)
  AUTHORS   Zhang Q and Wang Y.
  TITLE     MiR-210-3p targets CELF2 to facilitate progression of lung squamous
            carcinoma through PI3K/AKT pathway
  JOURNAL   Med Oncol 39 (11), 161 (2022)
   PUBMED   35972577
  REMARK    GeneRIF: MiR-210-3p targets CELF2 to facilitate progression of lung
            squamous carcinoma through PI3K/AKT pathway.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 521)
  AUTHORS   Yang Y, Cheng Y, Mou Y, Tang X and Mu X.
  TITLE     Natural Antisense Long Noncoding RNA HHIP-AS1 Suppresses
            Non-Small-Cell Lung Cancer Progression by Increasing HHIP Stability
            via Interaction with CELF2
  JOURNAL   Crit Rev Eukaryot Gene Expr 33 (1), 67-77 (2022)
   PUBMED   36374812
  REMARK    GeneRIF: Natural Antisense Long Noncoding RNA HHIP-AS1 Suppresses
            Non-Small-Cell Lung Cancer Progression by Increasing HHIP Stability
            via Interaction with CELF2.
REFERENCE   5  (residues 1 to 521)
  AUTHORS   Ramalingam S, Natarajan G, Schafer C, Subramaniam D, May R,
            Ramachandran I, Queimado L, Houchen CW and Anant S.
  TITLE     Novel intestinal splice variants of RNA-binding protein CUGBP2:
            isoform-specific effects on mitotic catastrophe
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 294 (4), G971-G981 (2008)
   PUBMED   18258790
  REMARK    GeneRIF: Data demonstrate that cells expressing CUGBP2 variant 1
            undergo apoptosis during mitosis, suggesting mitotic catastrophe.
REFERENCE   6  (residues 1 to 521)
  AUTHORS   Li D, Bachinski LL and Roberts R.
  TITLE     Genomic organization and isoform-specific tissue expression of
            human NAPOR (CUGBP2) as a candidate gene for familial
            arrhythmogenic right ventricular dysplasia
  JOURNAL   Genomics 74 (3), 396-401 (2001)
   PUBMED   11414768
REFERENCE   7  (residues 1 to 521)
  AUTHORS   Good PJ, Chen Q, Warner SJ and Herring DC.
  TITLE     A family of human RNA-binding proteins related to the Drosophila
            Bruno translational regulator
  JOURNAL   J Biol Chem 275 (37), 28583-28592 (2000)
   PUBMED   10893231
REFERENCE   8  (residues 1 to 521)
  AUTHORS   Choi DK, Ito T, Tsukahara F, Hirai M and Sakaki Y.
  TITLE     Developmentally-regulated expression of mNapor encoding an
            apoptosis-induced ELAV-type RNA binding protein
  JOURNAL   Gene 237 (1), 135-142 (1999)
   PUBMED   10524244
REFERENCE   9  (residues 1 to 521)
  AUTHORS   Lu X, Timchenko NA and Timchenko LT.
  TITLE     Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG
            repeats expanded in myotonic dystrophy
  JOURNAL   Hum Mol Genet 8 (1), 53-60 (1999)
   PUBMED   9887331
REFERENCE   10 (residues 1 to 521)
  AUTHORS   Hwang DM, Hwang WS and Liew CC.
  TITLE     Single pass sequencing of a unidirectional human fetal heart cDNA
            library to discover novel genes of the cardiovascular system
  JOURNAL   J Mol Cell Cardiol 26 (10), 1329-1333 (1994)
   PUBMED   7869393
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162408.8, AL136320.7,
            AL157704.10, AC026887.9 and KF573678.1.
            On Mar 28, 2007 this sequence version replaced NP_006552.2.
            
            Summary: Members of the CELF/BRUNOL protein family contain two
            N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM
            domain, and a divergent segment of 160-230 aa between the second
            and third RRM domains. Members of this protein family regulate
            pre-mRNA alternative splicing and may also be involved in mRNA
            editing, and translation. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2, also called NAPOR-2) contains
            a distinct 5' UTR, lacks an alternate segment in the 3' UTR, and
            uses an alternate splice site in the 3' coding region, compared to
            variant 3. The resulting isoform (2) is longer, has a distinct
            N-terminus, and includes an alternate segment near the C-terminus,
            compared to isoform 3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF090694.1, SRR14038192.2252268.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..521
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p14"
     Protein         1..521
                     /product="CUGBP Elav-like family member 2 isoform 2"
                     /note="ELAV-type RNA-binding protein 3; CUG-BP- and
                     ETR-3-like factor 2; neuroblastoma apoptosis-related
                     RNA-binding protein; bruno-like protein 3; RNA-binding
                     protein BRUNOL-3; CUG triplet repeat RNA-binding protein
                     2; KDM2B/CELF2 fusion"
                     /calculated_mol_wt=55601
     Region          <31..373
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     Region          46..129
                     /region_name="RRM1_CELF1_2_Bruno"
                     /note="RNA recognition motif 1 (RRM1) found in CUGBP
                     Elav-like family member CELF-1, CELF-2, Drosophila
                     melanogaster Bruno protein and similar proteins; cd12631"
                     /db_xref="CDD:410040"
     Site            order(50,52..53,56,77..80,82..83,90..92,94,124,126,
                     128..129)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410040"
     Region          138..218
                     /region_name="RRM2_CELF1_2"
                     /note="RNA recognition motif 2 (RRM2) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12634"
                     /db_xref="CDD:410042"
     Site            order(140,142,144..145,148,167,169,171,179..181,183,
                     209..210,213,215,217..218)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410042"
     Region          429..520
                     /region_name="RRM3_CELF1_2"
                     /note="RNA recognition motif 3 (RRM3) found in CUGBP
                     Elav-like family member CELF-1, CELF-2 and similar
                     proteins; cd12638"
                     /db_xref="CDD:241082"
     CDS             1..521
                     /gene="CELF2"
                     /gene_synonym="BRUNOL3; CELF-2; CUG-BP2; CUGBP2; DEE97;
                     ETR-3; ETR3; NAPOR"
                     /coded_by="NM_006561.4:219..1784"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS44355.1"
                     /db_xref="GeneID:10659"
                     /db_xref="HGNC:HGNC:2550"
                     /db_xref="MIM:602538"
ORIGIN      
        1 mtsafkldfl pdmmvegrll vpdringtan kmngaldhsd qpdpdaikmf vgqiprswse
       61 kelkelfepy gavyqinvlr drsqnppqsk gccfvtfytr kaaleaqnal hniktlpgmh
      121 hpiqmkpads eksnavedrk lfigmvskkc nendirvmfs pfgqieecri lrgpdglsrg
      181 cafvtfstra maqnaikamh qsqtmegcss pivvkfadtq kdkeqrrlqq qlaqqmqqln
      241 tatwgnltgl ggltpqylal lqqatsssnl gafsgiqqma gmnalqlqnl atlaaaaaaa
      301 qtsatstnan plsttssalg altspvaast pnstagaamn sltslgtlqg lagatvglnn
      361 inalavaqml sgmaalnggl gatgltngta gtmdaltqay sgiqqyaaaa lptlysqsll
      421 qqqsaagsqk egpeganlfi yhlpqefgdq dilqmfmpfg nvisakvfid kqtnlskcfg
      481 fvsydnpvsa qaaiqamngf qigmkrlkvq lkrskndskp y
//
LOCUS       NP_001374560            1060 aa            linear   PRI 17-APR-2023
DEFINITION  focal adhesion kinase 1 isoform 15 [Homo sapiens].
ACCESSION   NP_001374560
VERSION     NP_001374560.1
DBSOURCE    REFSEQ: accession NM_001387631.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1060)
  AUTHORS   Zhang J, Li W, Wang W, Chen Q, Xu Z, Deng M, Zhou L and He G.
  TITLE     Dual roles of FAK in tumor angiogenesis: A review focused on
            pericyte FAK
  JOURNAL   Eur J Pharmacol 947, 175694 (2023)
   PUBMED   36967077
  REMARK    GeneRIF: Dual roles of FAK in tumor angiogenesis: A review focused
            on pericyte FAK.
            Review article
REFERENCE   2  (residues 1 to 1060)
  AUTHORS   Akhade VS, Liu T, Docking TR, Jiang J, Gopal A and Karsan A.
  TITLE     Control of focal adhesion kinase activation by RUNX1-regulated
            miRNAs in high-risk AML
  JOURNAL   Leukemia 37 (4), 776-787 (2023)
   PUBMED   36788336
  REMARK    GeneRIF: Control of focal adhesion kinase activation by
            RUNX1-regulated miRNAs in high-risk AML.
REFERENCE   3  (residues 1 to 1060)
  AUTHORS   Zhang Y, He B, Zhang D, Zhang Y, Chen C, Zhang W, Yang S, Yao M,
            Cui G, Gu J, Wang T, Lin Z, Fan Y, Xiong Z and Hao Y.
  TITLE     FAK-mediated phosphorylation at Y464 regulates p85beta nuclear
            translocation to promote tumorigenesis of ccRCC by repressing RB1
            expression
  JOURNAL   Cell Rep 42 (3), 112188 (2023)
   PUBMED   36857183
  REMARK    GeneRIF: FAK-mediated phosphorylation at Y464 regulates p85beta
            nuclear translocation to promote tumorigenesis of ccRCC by
            repressing RB1 expression.
REFERENCE   4  (residues 1 to 1060)
  AUTHORS   Zhang J, Gelman IH, Qu J and Hochwald SN.
  TITLE     Phosphohistidine signaling promotes FAK-RB1 interaction and growth
            factor-independent proliferation of esophageal squamous cell
            carcinoma
  JOURNAL   Oncogene 42 (6), 449-460 (2023)
   PUBMED   36513743
  REMARK    GeneRIF: Phosphohistidine signaling promotes FAK-RB1 interaction
            and growth factor-independent proliferation of esophageal squamous
            cell carcinoma.
REFERENCE   5  (residues 1 to 1060)
  AUTHORS   Rizza S, Di Leo L, Pecorari C, Giglio P, Faienza F, Montagna C,
            Maiani E, Puglia M, Bosisio FM, Petersen TS, Lin L, Rissler V,
            Viloria JS, Luo Y, Papaleo E, De Zio D, Blagoev B and Filomeni G.
  TITLE     GSNOR deficiency promotes tumor growth via FAK1 S-nitrosylation
  JOURNAL   Cell Rep 42 (1), 111997 (2023)
   PUBMED   36656716
  REMARK    GeneRIF: GSNOR deficiency promotes tumor growth via FAK1
            S-nitrosylation.
REFERENCE   6  (residues 1 to 1060)
  AUTHORS   Polte TR and Hanks SK.
  TITLE     Interaction between focal adhesion kinase and Crk-associated
            tyrosine kinase substrate p130Cas
  JOURNAL   Proc Natl Acad Sci U S A 92 (23), 10678-10682 (1995)
   PUBMED   7479864
REFERENCE   7  (residues 1 to 1060)
  AUTHORS   Guinebault C, Payrastre B, Racaud-Sultan C, Mazarguil H, Breton M,
            Mauco G, Plantavid M and Chap H.
  TITLE     Integrin-dependent translocation of phosphoinositide 3-kinase to
            the cytoskeleton of thrombin-activated platelets involves specific
            interactions of p85 alpha with actin filaments and focal adhesion
            kinase
  JOURNAL   J Cell Biol 129 (3), 831-842 (1995)
   PUBMED   7537275
REFERENCE   8  (residues 1 to 1060)
  AUTHORS   Calalb MB, Polte TR and Hanks SK.
  TITLE     Tyrosine phosphorylation of focal adhesion kinase at sites in the
            catalytic domain regulates kinase activity: a role for Src family
            kinases
  JOURNAL   Mol Cell Biol 15 (2), 954-963 (1995)
   PUBMED   7529876
REFERENCE   9  (residues 1 to 1060)
  AUTHORS   Bergman M, Joukov V, Virtanen I and Alitalo K.
  TITLE     Overexpressed Csk tyrosine kinase is localized in focal adhesions,
            causes reorganization of alpha v beta 5 integrin, and interferes
            with HeLa cell spreading
  JOURNAL   Mol Cell Biol 15 (2), 711-722 (1995)
   PUBMED   7529872
REFERENCE   10 (residues 1 to 1060)
  AUTHORS   Schaller MD, Hildebrand JD, Shannon JD, Fox JW, Vines RR and
            Parsons JT.
  TITLE     Autophosphorylation of the focal adhesion kinase, pp125FAK, directs
            SH2-dependent binding of pp60src
  JOURNAL   Mol Cell Biol 14 (3), 1680-1688 (1994)
   PUBMED   7509446
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC100860.2, AC105009.13,
            AC105235.7 and AC067931.16.
            
            Summary: This gene encodes a cytoplasmic protein tyrosine kinase
            which is found concentrated in the focal adhesions that form
            between cells growing in the presence of extracellular matrix
            constituents. The encoded protein is a member of the FAK subfamily
            of protein tyrosine kinases but lacks significant sequence
            similarity to kinases from other subfamilies. Activation of this
            gene may be an important early step in cell growth and
            intracellular signal transduction pathways triggered in response to
            certain neural peptides or to cell interactions with the
            extracellular matrix. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jun 2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1060
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..1060
                     /product="focal adhesion kinase 1 isoform 15"
                     /EC_number="2.7.10.2"
                     /note="focal adhesion kinase 1; FAK-related non-kinase
                     polypeptide; focal adhesion kinase-related nonkinase;
                     protein phosphatase 1 regulatory subunit 71; PTK2 protein
                     tyrosine kinase 2"
                     /calculated_mol_wt=120066
     Region          35..130
                     /region_name="FERM_N_2"
                     /note="FERM N-terminal domain; pfam18038"
                     /db_xref="CDD:436229"
     Region          36..258
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          254..328
                     /region_name="FERM_C_FAK1"
                     /note="FERM domain C-lobe of Focal Adhesion Kinase 1 and
                     2; cd13190"
                     /db_xref="CDD:270011"
     Site            305..316
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270011"
     Region          420..689
                     /region_name="PTKc_FAK"
                     /note="Catalytic domain of the Protein Tyrosine Kinase,
                     Focal Adhesion Kinase; cd05056"
                     /db_xref="CDD:133187"
     Site            order(433..437,441,457,459,476,489,504..507,510..511,551,
                     555..556,558,569,586..590,599,633)
                     /site_type="active"
                     /db_xref="CDD:133187"
     Site            order(433..437,441,457,459,476,489,504..507,510..511,
                     555..556,558,569)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:133187"
     Site            order(551,555,586..590,599,633)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:133187"
     Site            568..592
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:133187"
     Site            order(599..603,637,641,666)
                     /site_type="other"
                     /note="FERM domain interface [polypeptide binding]"
                     /db_xref="CDD:133187"
     Region          924..1053
                     /region_name="Focal_AT"
                     /note="Focal adhesion targeting region; pfam03623"
                     /db_xref="CDD:427406"
     CDS             1..1060
                     /gene="PTK2"
                     /gene_synonym="FADK; FADK 1; FAK; FAK1; FRNK; p125FAK;
                     pp125FAK; PPP1R71"
                     /coded_by="NM_001387631.1:249..3431"
                     /note="isoform 15 is encoded by transcript variant 105"
                     /db_xref="GeneID:5747"
                     /db_xref="HGNC:HGNC:9611"
                     /db_xref="MIM:600758"
ORIGIN      
        1 maaayldpnl nhtpnsstkt hlgtgmersp gamervlkvf hyfesnsept twasiirhgd
       61 atdvrgiiqk ivdshkvkhv acygfrlshl rseevhwlhv dmgvssvrek yelahppeew
      121 kyelrirylp kgflnqfted kptlnffyqq vksdymleia dqvdqeialk lgcleirrsy
      181 wemrgnalek ksnyevlekd vglkrffpks lldsvkaktl rkliqqtfrq fanlnreesi
      241 lkffeilspv yrfdkecfkc algsswiisv elaigpeegi syltdkgcnp ltvtapslti
      301 aenmadlidg ycrlvngtsq sfiirpqkeg eralpsipkl ansekqgmrt havsvsgvsh
      361 cqhkvkkarr flplvfcshd ppstdeisgd etddyaeiid eedtytmpsk sygideardy
      421 eiqrerielg rcigegqfgd vhqgiymspe npalavaikt cknctsdsvr ekflqealtm
      481 rqfdhphivk ligvitenpv wiimelctlg elrsflqvrk ysldlaslil yayqlstala
      541 yleskrfvhr diaarnvlvs sndcvklgdf glsrymedst yykaskgklp ikwmapesin
      601 frrftsasdv wmfgvcmwei lmhgvkpfqg vknndvigri engerlpmpp ncpptlyslm
      661 tkcwaydpsr rprftelkaq lstileeeka qqeermrmes rrqatvswds ggsdeappkp
      721 srpgypsprs segfypspqh mvqtnhyqvs gypgshgita magsiypgqa slldqtdswn
      781 hrpqeiamwq pnvedstvld lrgigqvlpt hlmeerlirq qqemeedqrw lekeerflkp
      841 dvrlsrgsid redgslqgpi gnqhiyqpvg kpdpaappkk pprpgapghl gslaslsspa
      901 dsynegvkpw rlqpqeispp ptanldrsnd kvyenvtglv kaviemsski qpappeeyvp
      961 mvkevglalr tllatvdeti pllpasthre iemaqkllns dlgelinkmk laqqyvmtsl
     1021 qqeykkqmlt aahalavdak nlldvidqar lkmlgqtrph
//
LOCUS       NP_001011546             148 aa            linear   PRI 27-DEC-2022
DEFINITION  destrin isoform b [Homo sapiens].
ACCESSION   NP_001011546
VERSION     NP_001011546.1
DBSOURCE    REFSEQ: accession NM_001011546.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 148)
  AUTHORS   Liao KA, Rangarajan KV, Bai X, Taylor JM and Mack CP.
  TITLE     The actin depolymerizing factor destrin serves as a negative
            feedback inhibitor of smooth muscle cell differentiation
  JOURNAL   Am J Physiol Heart Circ Physiol 321 (5), H893-H904 (2021)
   PUBMED   34559579
  REMARK    GeneRIF: The actin depolymerizing factor destrin serves as a
            negative feedback inhibitor of smooth muscle cell differentiation.
REFERENCE   2  (residues 1 to 148)
  AUTHORS   Ullo MF and Logue JS.
  TITLE     ADF and cofilin-1 collaborate to promote cortical actin flow and
            the leader bleb-based migration of confined cells
  JOURNAL   Elife 10, e67856 (2021)
   PUBMED   34169836
  REMARK    GeneRIF: ADF and cofilin-1 collaborate to promote cortical actin
            flow and the leader bleb-based migration of confined cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 148)
  AUTHORS   Tan L, Cheng W, Liu F, Wang DO, Wu L, Cao N and Wang J.
  TITLE     Positive natural selection of N6-methyladenosine on the RNAs of
            processed pseudogenes
  JOURNAL   Genome Biol 22 (1), 180 (2021)
   PUBMED   34120636
  REMARK    GeneRIF: Positive natural selection of N6-methyladenosine on the
            RNAs of processed pseudogenes.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 148)
  AUTHORS   Zhang HJ, Chang WJ, Jia CY, Qiao L, Zhou J, Chen Q, Zheng XW, Zhang
            JH, Li HC, Yang ZY, Liu ZH, Liu GC, Ji SP and Lu F.
  TITLE     Destrin Contributes to Lung Adenocarcinoma Progression by
            Activating Wnt/beta-Catenin Signaling Pathway
  JOURNAL   Mol Cancer Res 18 (12), 1789-1802 (2020)
   PUBMED   32878967
  REMARK    GeneRIF: Destrin Contributes to Lung Adenocarcinoma Progression by
            Activating Wnt/beta-Catenin Signaling Pathway.
REFERENCE   5  (residues 1 to 148)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 148)
  AUTHORS   Toshima J, Toshima JY, Takeuchi K, Mori R and Mizuno K.
  TITLE     Cofilin phosphorylation and actin reorganization activities of
            testicular protein kinase 2 and its predominant expression in
            testicular Sertoli cells
  JOURNAL   J Biol Chem 276 (33), 31449-31458 (2001)
   PUBMED   11418599
REFERENCE   7  (residues 1 to 148)
  AUTHORS   Hatanaka H, Ogura K, Moriyama K, Ichikawa S, Yahara I and Inagaki
            F.
  TITLE     Tertiary structure of destrin and structural similarity between two
            actin-regulating protein families
  JOURNAL   Cell 85 (7), 1047-1055 (1996)
   PUBMED   8674111
REFERENCE   8  (residues 1 to 148)
  AUTHORS   Agnew BJ, Minamide LS and Bamburg JR.
  TITLE     Reactivation of phosphorylated actin depolymerizing factor and
            identification of the regulatory site
  JOURNAL   J Biol Chem 270 (29), 17582-17587 (1995)
   PUBMED   7615564
REFERENCE   9  (residues 1 to 148)
  AUTHORS   Hawkins M, Pope B, Maciver SK and Weeds AG.
  TITLE     Human actin depolymerizing factor mediates a pH-sensitive
            destruction of actin filaments
  JOURNAL   Biochemistry 32 (38), 9985-9993 (1993)
   PUBMED   8399167
REFERENCE   10 (residues 1 to 148)
  AUTHORS   Moriyama K, Nishida E, Yonezawa N, Sakai H, Matsumoto S, Iida K and
            Yahara I.
  TITLE     Destrin, a mammalian actin-depolymerizing protein, is closely
            related to cofilin. Cloning and expression of porcine brain destrin
            cDNA
  JOURNAL   J Biol Chem 265 (10), 5768-5773 (1990)
   PUBMED   2156828
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC009477.2, BX647319.1,
            S65738.1, AI597935.1 and AL132765.38.
            
            Summary: The product of this gene belongs to the actin-binding
            proteins ADF family. This family of proteins is responsible for
            enhancing the turnover rate of actin in vivo. This gene encodes the
            actin depolymerizing protein that severs actin filaments (F-actin)
            and binds to actin monomers (G-actin). Two transcript variants
            encoding distinct isoforms have been identified for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) contains an additional segment
            in the   coding region compared to variant 1. This difference
            causes translation initiation at a downstream ATG and an isoform
            (b) with a shorter N-terminus compared to an isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.67555.1,
                                           SRR1803614.106966.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..148
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.1"
     Protein         1..148
                     /product="destrin isoform b"
                     /note="bA462D18.2 (destrin (actin depolymerizing factor
                     ADF) (ACTDP)); actin-depolymerizing factor; epididymis
                     luminal protein 32; epididymis secretory sperm binding
                     protein"
                     /calculated_mol_wt=16489
     Region          2..136
                     /region_name="ADF"
                     /note="Actin depolymerisation factor/cofilin -like
                     domains; smart00102"
                     /db_xref="CDD:214516"
     Site            order(79,81,95,122,125)
                     /site_type="other"
                     /note="putative F-actin interface [polypeptide binding]"
                     /db_xref="CDD:200442"
     CDS             1..148
                     /gene="DSTN"
                     /gene_synonym="ACTDP; ADF; bA462D18.2; HEL32"
                     /coded_by="NM_001011546.2:318..764"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS46580.1"
                     /db_xref="GeneID:11034"
                     /db_xref="HGNC:HGNC:15750"
                     /db_xref="MIM:609114"
ORIGIN      
        1 mkvrkcstpe eikkrkkavi fclsadkkci iveegkeilv gdvgvtitdp fkhfvgmlpe
       61 kdcryalyda sfetkesrke elmfflwape laplkskmiy asskdaikkk fqgikhecqa
      121 ngpedlnrac iaeklggsli vafegcpv
//
LOCUS       NP_001229821             798 aa            linear   PRI 27-DEC-2022
DEFINITION  cold shock domain-containing protein E1 isoform 1 [Homo sapiens].
ACCESSION   NP_001229821
VERSION     NP_001229821.1
DBSOURCE    REFSEQ: accession NM_001242892.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 798)
  AUTHORS   Smith GA, Padmanabhan A, Lau BH, Pampana A, Li L, Lee CY, Pelonero
            A, Nishino T, Sadagopan N, Xia VQ, Jain R, Natarajan P, Wu RS,
            Black BL, Srivastava D, Shokat KM and Chorba JS.
  TITLE     Cold shock domain-containing protein E1 is a posttranscriptional
            regulator of the LDL receptor
  JOURNAL   Sci Transl Med 14 (662), eabj8670 (2022)
   PUBMED   36103516
  REMARK    GeneRIF: Cold shock domain-containing protein E1 is a
            posttranscriptional regulator of the LDL receptor.
REFERENCE   2  (residues 1 to 798)
  AUTHORS   Kim Y, Ko JY, Lee SB, Oh S, Park JW, Kang HG, Kim DH, Chung D, Lim
            S, Kong H, Kim J, Yoo KH, Han W, Chun KH and Park JH.
  TITLE     Reduced miR-371b-5p expression drives tumor progression via
            CSDE1/RAC1 regulation in triple-negative breast cancer
  JOURNAL   Oncogene 41 (22), 3151-3161 (2022)
   PUBMED   35490208
  REMARK    GeneRIF: Reduced miR-371b-5p expression drives tumor progression
            via CSDE1/RAC1 regulation in triple-negative breast cancer.
REFERENCE   3  (residues 1 to 798)
  AUTHORS   Avolio R, Ingles-Ferrandiz M, Ciocia A, Coll O, Bonnin S, Guitart
            T, Ribo A and Gebauer F.
  TITLE     Coordinated post-transcriptional control of oncogene-induced
            senescence by UNR/CSDE1
  JOURNAL   Cell Rep 38 (2), 110211 (2022)
   PUBMED   35021076
  REMARK    GeneRIF: Coordinated post-transcriptional control of
            oncogene-induced senescence by UNR/CSDE1.
REFERENCE   4  (residues 1 to 798)
  AUTHORS   Kottke T, Tonne J, Evgin L, Driscoll CB, van Vloten J, Jennings VA,
            Huff AL, Zell B, Thompson JM, Wongthida P, Pulido J, Schuelke MR,
            Samson A, Selby P, Ilett E, McNiven M, Roberts LR, Borad MJ, Pandha
            H, Harrington K, Melcher A and Vile RG.
  TITLE     Oncolytic virotherapy induced CSDE1 neo-antigenesis restricts VSV
            replication but can be targeted by immunotherapy
  JOURNAL   Nat Commun 12 (1), 1930 (2021)
   PUBMED   33772027
  REMARK    GeneRIF: Oncolytic virotherapy induced CSDE1 neo-antigenesis
            restricts VSV replication but can be targeted by immunotherapy.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 798)
  AUTHORS   He W, Azzi-Martin L, Velasco V, Lehours P, Dubus P,
            Djavaheri-Mergny M and Menard A.
  TITLE     The CDT of Helicobacter hepaticus induces pro-survival autophagy
            and nucleoplasmic reticulum formation concentrating the RNA binding
            proteins UNR/CSDE1 and P62/SQSTM1
  JOURNAL   PLoS Pathog 17 (3), e1009320 (2021)
   PUBMED   33662035
  REMARK    GeneRIF: The CDT of Helicobacter hepaticus induces pro-survival
            autophagy and nucleoplasmic reticulum formation concentrating the
            RNA binding proteins UNR/CSDE1 and P62/SQSTM1.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 798)
  AUTHORS   Grosset C, Chen CY, Xu N, Sonenberg N, Jacquemin-Sablon H and Shyu
            AB.
  TITLE     A mechanism for translationally coupled mRNA turnover: interaction
            between the poly(A) tail and a c-fos RNA coding determinant via a
            protein complex
  JOURNAL   Cell 103 (1), 29-40 (2000)
   PUBMED   11051545
REFERENCE   7  (residues 1 to 798)
  AUTHORS   Hunt SL, Hsuan JJ, Totty N and Jackson RJ.
  TITLE     unr, a cellular cytoplasmic RNA-binding protein with five
            cold-shock domains, is required for internal initiation of
            translation of human rhinovirus RNA
  JOURNAL   Genes Dev 13 (4), 437-448 (1999)
   PUBMED   10049359
REFERENCE   8  (residues 1 to 798)
  AUTHORS   Boussadia O, Jacquemin-Sablon H and Dautry F.
  TITLE     Exon skipping in the expression of the gene immediately upstream of
            N-ras (unr/NRU)
  JOURNAL   Biochim Biophys Acta 1172 (1-2), 64-72 (1993)
   PUBMED   8439573
REFERENCE   9  (residues 1 to 798)
  AUTHORS   Nicolaiew N, Triqueneaux G and Dautry F.
  TITLE     Organization of the human N-ras locus: characterization of a gene
            located immediately upstream of N-ras
  JOURNAL   Oncogene 6 (5), 721-730 (1991)
   PUBMED   2052355
REFERENCE   10 (residues 1 to 798)
  AUTHORS   Jeffers M, Paciucci R and Pellicer A.
  TITLE     Characterization of unr; a gene closely linked to N-ras
  JOURNAL   Nucleic Acids Res 18 (16), 4891-4899 (1990)
   PUBMED   2204029
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP202324.1, AK290146.1, AL096773.6, AB020692.1 and BU681634.1.
            
            Transcript Variant: This variant (5) differs in the 5' UTR and
            coding sequence compared to variant 4. The resulting isoform (1) is
            shorter at the N-terminus compared to isoform 4. Variants 1 and 5
            both encode isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.214531.1,
                                           SRR1660803.222741.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..798
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     Protein         1..798
                     /product="cold shock domain-containing protein E1 isoform
                     1"
                     /note="upstream of NRAS; NRAS-related; cold shock
                     domain-containing protein E1; cold shock domain containing
                     E1, RNA binding; N-ras upstream gene protein"
                     /calculated_mol_wt=88754
     Region          26..90
                     /region_name="CSD"
                     /note="'Cold-shock' DNA-binding domain; pfam00313"
                     /db_xref="CDD:278729"
     Site            81
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O75534.2)"
     Site            123
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75534.2)"
     Region          186..248
                     /region_name="CSD"
                     /note="'Cold-shock' DNA-binding domain; pfam00313"
                     /db_xref="CDD:278729"
     Site            order(192,199,210,238)
                     /site_type="DNA binding"
                     /note="DNA-binding site [nucleotide binding]"
                     /db_xref="CDD:239905"
     Site            order(197..202,209..212)
                     /site_type="active"
                     /note="RNA-binding motif [active]"
                     /db_xref="CDD:239905"
     Site            276
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75534.2)"
     Region          350..413
                     /region_name="CSP"
                     /note="Cold shock protein domain; smart00357"
                     /db_xref="CDD:214633"
     Site            514
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O75534.2)"
     Region          521..582
                     /region_name="CSD"
                     /note="'Cold-shock' DNA-binding domain; pfam00313"
                     /db_xref="CDD:278729"
     Site            order(530..535,542..545)
                     /site_type="active"
                     /note="RNA-binding motif [active]"
                     /db_xref="CDD:239905"
     Site            584
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75534.2)"
     Region          674..738
                     /region_name="CSD"
                     /note="'Cold-shock' DNA-binding domain; pfam00313"
                     /db_xref="CDD:278729"
     Region          756..788
                     /region_name="SUZ-C"
                     /note="SUZ-C motif; pfam12901"
                     /db_xref="CDD:432865"
     Site            761
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75534.2)"
     CDS             1..798
                     /gene="CSDE1"
                     /gene_synonym="D1S155E; UNR"
                     /coded_by="NM_001242892.2:61..2457"
                     /note="isoform 1 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS30812.1"
                     /db_xref="GeneID:7812"
                     /db_xref="HGNC:HGNC:29905"
                     /db_xref="MIM:191510"
ORIGIN      
        1 msfdpnllhn nghngypngt saalretgvi eklltsygfi qcserqarlf fhcsqyngnl
       61 qdlkvgddve fevssdrrtg kpiavklvki kqeilpeerm ngqvvcavph nleskspaap
      121 gqsptgsvcy erngevfylt ytpedvegnv qletgdkinf vidnnkhtga vsarnimllk
      181 kkqarcqgvv camkeafgfi ergdvvkeif fhysefkgdl etlqpgddve ftikdrngke
      241 vatdvrllpq gtvifedisi ehfegtvtkv ipkvpsknqn dplpgrikvd fvipkelpfg
      301 dkdtkskvtl legdhvrfni stdrrdkler atnievlsnt fqftnearem gviaamrdgf
      361 gfikcvdrdv rmffhfseil dgnqlhiade veftvvpdml saqrnhairi kklpkgtvsf
      421 hshsdhrflg tvekeatfsn pkttspnkgk ekeaedgiia yddcgvklti afqakdvegs
      481 tspqigdkve fsisdkqrpg qqvatcvrll grnsnskrll gyvatlkdnf gfietanhdk
      541 eiffhysefs gdvdslelgd mveyslskgk gnkvsaekvn kthsvngite eadptiysgk
      601 virplrsvdp tqteyqgmie iveegdmkge vypfgivgma nkgdclqkge svkfqlcvlg
      661 qnaqtmayni tplrratvec vkdqfgfiny evgdskklff hvkevqdgie lqagdevefs
      721 vilnqrtgkc sacnvwrvce gpkavaaprp drlvnrlkni tlddasaprl mvlrqprgpd
      781 nsmgfgaerk irqagvid
//
LOCUS       NP_001308062             257 aa            linear   PRI 27-DEC-2022
DEFINITION  Golgi SNAP receptor complex member 2 isoform D [Homo sapiens].
ACCESSION   NP_001308062 XP_005257900
VERSION     NP_001308062.1
DBSOURCE    REFSEQ: accession NM_001321133.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 257)
  AUTHORS   Yu M, Tcheandjieu C, Georges A, Xiao K, Tejeda H, Dina C, Le
            Tourneau T, Fiterau M, Judy R, Tsao NL, Amgalan D, Munger CJ,
            Engreitz JM, Damrauer SM, Bouatia-Naji N and Priest JR.
  TITLE     Computational estimates of annular diameter reveal genetic
            determinants of mitral valve function and disease
  JOURNAL   JCI Insight 7 (3), e146580 (2022)
   PUBMED   35132965
  REMARK    GeneRIF: Computational estimates of annular diameter reveal genetic
            determinants of mitral valve function and disease.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 257)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 257)
  AUTHORS   Larson AA, Baker PR 2nd, Milev MP, Press CA, Sokol RJ, Cox MO,
            Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K,
            Tadjo TF, Williams CA, Sacher M and Moore SA.
  TITLE     TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of
            alpha-dystroglycan and muscular dystrophy
  JOURNAL   Skelet Muscle 8 (1), 17 (2018)
   PUBMED   29855340
  REMARK    GeneRIF: Recessive mutations in TRAPPC11 and GOSR2 are associated
            with congenital muscular dystrophy and hypoglycosylation of
            alpha-dystroglycan.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 257)
  AUTHORS   Liu X, Salokas K, Tamene F, Jiu Y, Weldatsadik RG, Ohman T and
            Varjosalo M.
  TITLE     An AP-MS- and BioID-compatible MAC-tag enables comprehensive
            mapping of protein interactions and subcellular localizations
  JOURNAL   Nat Commun 9 (1), 1188 (2018)
   PUBMED   29568061
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 257)
  AUTHORS   Volker JM, Dergai M, Abriata LA, Mingard Y, Ysselstein D, Krainc D,
            Dal Peraro M, Fischer von Mollard G, Fasshauer D, Koliwer J and
            Schwake M.
  TITLE     Functional assays for the assessment of the pathogenicity of
            variants of GOSR2, an ER-to-Golgi SNARE involved in progressive
            myoclonus epilepsies
  JOURNAL   Dis Model Mech 10 (12), 1391-1398 (2017)
   PUBMED   28982678
  REMARK    GeneRIF: Molecular dynamics (MD) simulations showed that the
            hydrophobic core, which triggers SNARE complex formation, is
            compromised due to the glycine-to-tryptophan substitution in both
            GOSR2 and Bos1.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 257)
  AUTHORS   Xu D, Joglekar AP, Williams AL and Hay JC.
  TITLE     Subunit structure of a mammalian ER/Golgi SNARE complex
  JOURNAL   J Biol Chem 275 (50), 39631-39639 (2000)
   PUBMED   11035026
REFERENCE   7  (residues 1 to 257)
  AUTHORS   Bui TD, Levy ER, Subramaniam VN, Lowe SL and Hong W.
  TITLE     cDNA characterization and chromosomal mapping of human golgi SNARE
            GS27 and GS28 to chromosome 17
  JOURNAL   Genomics 57 (2), 285-288 (1999)
   PUBMED   10198168
REFERENCE   8  (residues 1 to 257)
  AUTHORS   Hay JC, Klumperman J, Oorschot V, Steegmaier M, Kuo CS and Scheller
            RH.
  TITLE     Localization, dynamics, and protein interactions reveal distinct
            roles for ER and Golgi SNAREs
  JOURNAL   J Cell Biol 141 (7), 1489-1502 (1998)
   PUBMED   9647643
  REMARK    Erratum:[J Cell Biol 1998 Aug 10;142(3):following 881]
REFERENCE   9  (residues 1 to 257)
  AUTHORS   Lowe SL, Peter F, Subramaniam VN, Wong SH and Hong W.
  TITLE     A SNARE involved in protein transport through the Golgi apparatus
  JOURNAL   Nature 389 (6653), 881-884 (1997)
   PUBMED   9349823
REFERENCE   10 (residues 1 to 257)
  AUTHORS   Hay JC, Chao DS, Kuo CS and Scheller RH.
  TITLE     Protein interactions regulating vesicle transport between the
            endoplasmic reticulum and Golgi apparatus in mammalian cells
  JOURNAL   Cell 89 (1), 149-158 (1997)
   PUBMED   9094723
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005670.1, BG718145.1 and
            AW205003.1.
            On Mar 18, 2016 this sequence version replaced XP_005257900.1.
            
            Summary: This gene encodes a trafficking membrane protein which
            transports proteins among the medial- and trans-Golgi compartments.
            Due to its chromosomal location and trafficking function, this gene
            may be involved in familial essential hypertension. [provided by
            RefSeq, Mar 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.386401.1,
                                           SRR5189655.42398.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..257
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     Protein         1..257
                     /product="Golgi SNAP receptor complex member 2 isoform D"
                     /note="membrin; 27 kDa Golgi SNARE protein"
                     /calculated_mol_wt=29682
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.8;
                     propagated from UniProtKB/Swiss-Prot (O14653.2)"
     Region          118..120
                     /region_name="IxM motif, signal for cargo packaging into
                     COPII-coated vesicles.
                     /evidence=ECO:0000269|PubMed:18843296"
                     /note="propagated from UniProtKB/Swiss-Prot (O14653.2)"
     Region          120..185
                     /region_name="SNARE_GS27"
                     /note="SNARE motif of GS27; cd15863"
                     /db_xref="CDD:277216"
     Site            order(125..127,129..134,136..137,140..141,143..148,
                     150..151,153..155,157..162,164..165,167..169,171..172,
                     174..176,178..179,181)
                     /site_type="other"
                     /note="heterotetramer interface [polypeptide binding]"
                     /db_xref="CDD:277216"
     Site            154
                     /site_type="other"
                     /note="zero layer"
                     /db_xref="CDD:277216"
     CDS             1..257
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /coded_by="NM_001321133.2:34..807"
                     /note="isoform D is encoded by transcript variant D"
                     /db_xref="CCDS:CCDS86609.1"
                     /db_xref="GeneID:9570"
                     /db_xref="HGNC:HGNC:4431"
                     /db_xref="MIM:604027"
ORIGIN      
        1 mdplfqqthk qvheiqscmg rletadkqsv hiveneiqas idqifsrler leilsskepp
       61 nkrqnarlrv dqlkydvqhl qtalrnfqhr rhareqqerq reellsrtft tndsdttipm
      121 deslqfnssl qkvhngmddl ildghnildg lrtqrltlkg tqkkildian mlglsntvmr
      181 liekrafqdk yfmietrshh vaqngpells srdppasasr sagiigmshh pdlqipfelr
      241 lgfelwfyql lavisdq
//
LOCUS       NP_003742                814 aa            linear   PRI 27-DEC-2022
DEFINITION  eukaryotic translation initiation factor 3 subunit B isoform 1
            [Homo sapiens].
ACCESSION   NP_003742
VERSION     NP_003742.2
DBSOURCE    REFSEQ: accession NM_003751.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 814)
  AUTHORS   Fang P, Han Y, Qu Y, Wang X, Zhang Y, Zhang W, Zhang N, Li G and Ma
            W.
  TITLE     EIF3B stabilizes PTGS2 expression by counteracting MDM2-mediated
            ubiquitination to promote the development and progression of
            malignant melanoma
  JOURNAL   Cancer Sci 113 (12), 4181-4192 (2022)
   PUBMED   36050601
  REMARK    GeneRIF: EIF3B stabilizes PTGS2 expression by counteracting
            MDM2-mediated ubiquitination to promote the development and
            progression of malignant melanoma.
REFERENCE   2  (residues 1 to 814)
  AUTHORS   Song S, Liu J, Zhang M, Gao X, Sun W, Liu P, Wang Y and Li J.
  TITLE     Eukaryotic translation initiation factor 3 subunit B could serve as
            a potential prognostic predictor for breast cancer
  JOURNAL   Bioengineered 13 (2), 2762-2776 (2022)
   PUBMED   35040374
  REMARK    GeneRIF: Eukaryotic translation initiation factor 3 subunit B could
            serve as a potential prognostic predictor for breast cancer.
REFERENCE   3  (residues 1 to 814)
  AUTHORS   Zhu F, Fu Y and He X.
  TITLE     EIF3B Associates with Exacerbated Clinical Features, Poor Treatment
            Response and Survival in Adult Philadelphia Chromosome Negative
            Acute Lymphoblastic Leukemia Patients
  JOURNAL   Technol Cancer Res Treat 20, 15330338211041464 (2021)
   PUBMED   34617851
  REMARK    GeneRIF: EIF3B Associates with Exacerbated Clinical Features, Poor
            Treatment Response and Survival in Adult Philadelphia Chromosome
            Negative Acute Lymphoblastic Leukemia Patients.
REFERENCE   4  (residues 1 to 814)
  AUTHORS   Xiang P, Sun Y, Fang Z, Yan K and Fan Y.
  TITLE     Eukaryotic translation initiation factor 3 subunit b is a novel
            oncogenic factor in prostate cancer
  JOURNAL   Mamm Genome 31 (7-8), 197-204 (2020)
   PUBMED   32556998
  REMARK    GeneRIF: Eukaryotic translation initiation factor 3 subunit b is a
            novel oncogenic factor in prostate cancer.
REFERENCE   5  (residues 1 to 814)
  AUTHORS   Ma F, Li X, Ren J, Guo R, Li Y, Liu J, Sun Y, Liu Z, Jia J and Li
            W.
  TITLE     Downregulation of eukaryotic translation initiation factor 3b
            inhibited proliferation and metastasis of gastric cancer
  JOURNAL   Cell Death Dis 10 (9), 623 (2019)
   PUBMED   31423012
  REMARK    GeneRIF: Downregulation of eukaryotic translation initiation factor
            3b inhibited proliferation and metastasis of gastric cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 814)
  AUTHORS   Sizova DV, Kolupaeva VG, Pestova TV, Shatsky IN and Hellen CU.
  TITLE     Specific interaction of eukaryotic translation initiation factor 3
            with the 5' nontranslated regions of hepatitis C virus and
            classical swine fever virus RNAs
  JOURNAL   J Virol 72 (6), 4775-4782 (1998)
   PUBMED   9573242
REFERENCE   7  (residues 1 to 814)
  AUTHORS   Chaudhuri J, Chakrabarti A and Maitra U.
  TITLE     Biochemical characterization of mammalian translation initiation
            factor 3 (eIF3). Molecular cloning reveals that p110 subunit is the
            mammalian homologue of Saccharomyces cerevisiae protein Prt1
  JOURNAL   J Biol Chem 272 (49), 30975-30983 (1997)
   PUBMED   9388245
REFERENCE   8  (residues 1 to 814)
  AUTHORS   Methot N, Rom E, Olsen H and Sonenberg N.
  TITLE     The human homologue of the yeast Prt1 protein is an integral part
            of the eukaryotic initiation factor 3 complex and interacts with
            p170
  JOURNAL   J Biol Chem 272 (2), 1110-1116 (1997)
   PUBMED   8995410
REFERENCE   9  (residues 1 to 814)
  AUTHORS   Asano K, Kinzy TG, Merrick WC and Hershey JW.
  TITLE     Conservation and diversity of eukaryotic translation initiation
            factor eIF3
  JOURNAL   J Biol Chem 272 (2), 1101-1109 (1997)
   PUBMED   8995409
REFERENCE   10 (residues 1 to 814)
  AUTHORS   Kirken RA, Rui H, Evans GA and Farrar WL.
  TITLE     Characterization of an interleukin-2 (IL-2)-induced tyrosine
            phosphorylated 116-kDa protein associated with the IL-2 receptor
            beta-subunit
  JOURNAL   J Biol Chem 268 (30), 22765-22770 (1993)
   PUBMED   7693677
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AC004971.3, U78525.1 and BQ015102.1.
            On Jul 25, 2003 this sequence version replaced NP_003742.1.
            
            Transcript Variant: This variant (1) differs in the 3' UTR compared
            to variant 2. Variants 1, 2 and 3 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC110865.1, U62583.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..814
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     Protein         1..814
                     /product="eukaryotic translation initiation factor 3
                     subunit B isoform 1"
                     /note="eukaryotic translation initiation factor 3, subunit
                     9 (eta, 116kD); eukaryotic translation initiation factor
                     3, subunit 9 eta, 116kDa; prt1 homolog; eukaryotic
                     translation initiation factor 3 subunit 9; protein
                     synthesis 1"
                     /calculated_mol_wt=92351
     Region          1..158
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Region          <4..161
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     Site            78
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Site            81
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Site            83
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:18669648;
                     propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Site            85
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:18669648;
                     propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Site            119
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Region          124..413
                     /region_name="Sufficient for interaction with EIF3E"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Site            125
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Site            152
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Site            154
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Site            164
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          170..274
                     /region_name="Sufficient for interaction with EIF3J"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          184..264
                     /region_name="RRM_eIF3B"
                     /note="RNA recognition motif (RRM) found in eukaryotic
                     translation initiation factor 3 subunit B (eIF-3B) and
                     similar proteins; cd12278"
                     /db_xref="CDD:409720"
     Site            order(186,188,190..191,221,230,232,234,262,264)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:409720"
     Site            order(189,192,199,202..203,205..207,209..210,213,249..252,
                     254..255,260..261)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:409720"
     Site            209
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Site            239
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Site            288
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Region          305..805
                     /region_name="COG5354"
                     /note="Uncharacterized protein, contains Trp-Asp (WD)
                     repeat [General function prediction only]"
                     /db_xref="CDD:227657"
     Region          338..371
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Site            364
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P55884.3)"
     Region          366..425
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          376..423
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          426..489
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          429..463
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          467..506
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          490..553
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          514..545
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          554..598
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          556..604
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          599..642
                     /region_name="WD 7"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          612..647
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          643..685
                     /region_name="WD 8"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3)"
     Region          654..684
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..814
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /coded_by="NM_003751.4:96..2540"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5332.1"
                     /db_xref="GeneID:8662"
                     /db_xref="HGNC:HGNC:3280"
                     /db_xref="MIM:603917"
ORIGIN      
        1 mqdaenvavp eaaeeraepg qqqpaaeppp aegllrpagp gapeaagtea sseevgiaea
       61 gpesevrtep aaeaeaasgp sespsppaae elpgshaepp vpaqgeapge qardersdsr
      121 aqavsedagg negraaeaep ralengdade psfsdpedfv ddvseeellg dvlkdrpqea
      181 dgidsvivvd nvpqvgpdrl eklknvihki fskfgkitnd fypeedgktk gyifleyasp
      241 ahavdavkna dgykldkqht frvnlftdfd kymtisdewd ipekqpfkdl gnlrywleea
      301 ecrdqysvif esgdrtsifw ndvkdpvsie erarwtetyv rwspkgtyla tfhqrgialw
      361 ggekfkqiqr fshqgvqlid fspcerylvt fsplmdtqdd pqaiiiwdil tghkkrgfhc
      421 essahwpifk wshdgkffar mtldtlsiye tpsmglldkk slkisgikdf swspggniia
      481 fwvpedkdip arvtlmqlpt rqeirvrnlf nvvdcklhwq kngdylcvkv drtpkgtqgv
      541 vtnfeifrmr ekqvpvdvve mketiiafaw epngskfavl hgeaprisvs fyhvknngki
      601 elikmfdkqq antifwspqg qfvvlaglrs mngalafvdt sdctvmniae hymasdvewd
      661 ptgryvvtsv swwshkvdna ywlwtfqgrl lqknnkdrfc qllwrprppt llsqeqikqi
      721 kkdlkkyski feqkdrlsqs kaskelverr rtmmedfrky rkmaqelyme qknerlelrg
      781 gvdtdeldsn vddweeetie ffvteeiipl gnqe
//
LOCUS       NP_001352853             843 aa            linear   PRI 27-DEC-2022
DEFINITION  neuroligin-1 isoform 2 [Homo sapiens].
ACCESSION   NP_001352853 XP_016861381
VERSION     NP_001352853.1
DBSOURCE    REFSEQ: accession NM_001365924.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 843)
  AUTHORS   Pergolizzi M, Bizzozero L, Maione F, Maldi E, Isella C, Macagno M,
            Mariella E, Bardelli A, Medico E, Marchio C, Serini G, Di
            Nicolantonio F, Bussolino F and Arese M.
  TITLE     The neuronal protein Neuroligin 1 promotes colorectal cancer
            progression by modulating the APC/beta-catenin pathway
  JOURNAL   J Exp Clin Cancer Res 41 (1), 266 (2022)
   PUBMED   36056393
  REMARK    GeneRIF: The neuronal protein Neuroligin 1 promotes colorectal
            cancer progression by modulating the APC/beta-catenin pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 843)
  AUTHORS   Choi GE, Chae CW, Park MR, Yoon JH, Jung YH, Lee HJ and Han HJ.
  TITLE     Prenatal glucocorticoid exposure selectively impairs neuroligin
            1-dependent neurogenesis by suppressing astrocytic FGF2-neuronal
            FGFR1 axis
  JOURNAL   Cell Mol Life Sci 79 (6), 294 (2022)
   PUBMED   35562616
  REMARK    GeneRIF: Prenatal glucocorticoid exposure selectively impairs
            neuroligin 1-dependent neurogenesis by suppressing astrocytic
            FGF2-neuronal FGFR1 axis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 843)
  AUTHORS   Yu Q, Wang X, Yang Y, Chi P, Huang J, Qiu S, Zheng X and Chen X.
  TITLE     Upregulated NLGN1 predicts poor survival in colorectal cancer
  JOURNAL   BMC Cancer 21 (1), 884 (2021)
   PUBMED   34340665
  REMARK    GeneRIF: Upregulated NLGN1 predicts poor survival in colorectal
            cancer.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 843)
  AUTHORS   Camporesi E, Lashley T, Gobom J, Lantero-Rodriguez J, Hansson O,
            Zetterberg H, Blennow K and Becker B.
  TITLE     Neuroligin-1 in brain and CSF of neurodegenerative disorders:
            investigation for synaptic biomarkers
  JOURNAL   Acta Neuropathol Commun 9 (1), 19 (2021)
   PUBMED   33522967
  REMARK    GeneRIF: Neuroligin-1 in brain and CSF of neurodegenerative
            disorders: investigation for synaptic biomarkers.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 843)
  AUTHORS   Paskus JD, Tian C, Fingleton E, Shen C, Chen X, Li Y, Myers SA,
            Badger JD 2nd, Bemben MA, Herring BE and Roche KW.
  TITLE     Synaptic Kalirin-7 and Trio Interactomes Reveal a GEF
            Protein-Dependent Neuroligin-1 Mechanism of Action
  JOURNAL   Cell Rep 29 (10), 2944-2952 (2019)
   PUBMED   31801062
  REMARK    GeneRIF: Synaptic Kalirin-7 and Trio Interactomes Reveal a GEF
            Protein-Dependent Neuroligin-1 Mechanism of Action.
REFERENCE   6  (residues 1 to 843)
  AUTHORS   Cantallops I and Cline HT.
  TITLE     Synapse formation: if it looks like a duck and quacks like a duck
            ...
  JOURNAL   Curr Biol 10 (17), R620-R623 (2000)
   PUBMED   10996085
  REMARK    Review article
REFERENCE   7  (residues 1 to 843)
  AUTHORS   Scheiffele P, Fan J, Choih J, Fetter R and Serafini T.
  TITLE     Neuroligin expressed in nonneuronal cells triggers presynaptic
            development in contacting axons
  JOURNAL   Cell 101 (6), 657-669 (2000)
   PUBMED   10892652
REFERENCE   8  (residues 1 to 843)
  AUTHORS   Irie M, Hata Y, Takeuchi M, Ichtchenko K, Toyoda A, Hirao K, Takai
            Y, Rosahl TW and Sudhof TC.
  TITLE     Binding of neuroligins to PSD-95
  JOURNAL   Science 277 (5331), 1511-1515 (1997)
   PUBMED   9278515
REFERENCE   9  (residues 1 to 843)
  AUTHORS   Ichtchenko K, Nguyen T and Sudhof TC.
  TITLE     Structures, alternative splicing, and neurexin binding of multiple
            neuroligins
  JOURNAL   J Biol Chem 271 (5), 2676-2682 (1996)
   PUBMED   8576240
REFERENCE   10 (residues 1 to 843)
  AUTHORS   Ichtchenko K, Hata Y, Nguyen T, Ullrich B, Missler M, Moomaw C and
            Sudhof TC.
  TITLE     Neuroligin 1: a splice site-specific ligand for beta-neurexins
  JOURNAL   Cell 81 (3), 435-443 (1995)
   PUBMED   7736595
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018456.18, AC092967.5,
            AC092923.8 and AC008120.17.
            On Sep 20, 2018 this sequence version replaced XP_016861381.1.
            
            Summary: This gene encodes a member of a family of neuronal cell
            surface proteins. Members of this family may act as splice
            site-specific ligands for beta-neurexins and may be involved in the
            formation and remodeling of central nervous system synapses.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.226090.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..843
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.31"
     Protein         1..843
                     /product="neuroligin-1 isoform 2"
                     /calculated_mol_wt=94137
     Region          52..626
                     /region_name="COesterase"
                     /note="Carboxylesterase family; pfam00135"
                     /db_xref="CDD:395084"
     Site            order(201..203,280..282,285,433,437..438,480,526,529)
                     /site_type="other"
                     /note="substrate binding pocket [chemical binding]"
                     /db_xref="CDD:238191"
     Site            order(281,411,525)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:238191"
     CDS             1..843
                     /gene="NLGN1"
                     /gene_synonym="NL1"
                     /coded_by="NM_001365924.2:1065..3596"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS93427.1"
                     /db_xref="GeneID:22871"
                     /db_xref="HGNC:HGNC:14291"
                     /db_xref="MIM:600568"
ORIGIN      
        1 malprctwpn yvwravmacl vhrglgaplt lcmlgcllqa ghvlsqkldd vdplvatnfg
       61 kirgikkeln neilgpviqf lgvpyaappt gerrfqppep pspwsdirna tqfapvcpqn
      121 iidgrlpevm lpvwftnnld vvssyvqdqs edclylniyv ptedvkrisk ecarkpgkki
      181 crkgdirdsg gpkpvmvyih ggsymegtgn lydgsvlasy gnvivitvny rlgvlgflst
      241 gdqaakgnyg lldliqalrw tsenigffgg dplritvfgs gaggscvnll tlshysegnr
      301 wsnstkglfq raiaqsgtal sswavsfqpa kyarmlatkv gcnvsdtvel veclqkkpyk
      361 elvdqdiqpa ryhiafgpvi dgdvipddpq ilmeqgefln ydimlgvnqg eglkfveniv
      421 dsddgisasd fdfavsnfvd nlygypegkd vlretikfmy tdwadrhnpe trrktllalf
      481 tdhqwvapav atadlhsnfg sptyfyafyh hcqtdqvpaw adaahgdevp yvlgipmigp
      541 telfpcnfsk ndvmlsavvm tywtnfaktg dpnqpvpqdt kfihtkpnrf eevawtrysq
      601 kdqlylhigl kprvkehyra nkvnlwlelv phlhnlndis qytstttkvp stditfrptr
      661 knsvpvtsaf ptakqddpkq qpspfsvdqr dystelsvti avgasllfln ilafaalyyk
      721 kdkrrhdvhr rcspqrtttn dlthaqeeei mslqmkhtdl dhecesihph evvlrtacpp
      781 dytlamrrsp ddvplmtpnt itmipntipg iqplhtfntf tggqnntlph phphphshst
      841 trv
//
LOCUS       NP_001338135            1042 aa            linear   PRI 28-DEC-2022
DEFINITION  R3H domain-containing protein 2 isoform 4 [Homo sapiens].
ACCESSION   NP_001338135 XP_016874495
VERSION     NP_001338135.1
DBSOURCE    REFSEQ: accession NM_001351206.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1042)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 1042)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   3  (residues 1 to 1042)
  AUTHORS   Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni
            S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS,
            Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R,
            Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K,
            Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K,
            Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen
            M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson
            PKE, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte
            IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena
            R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ,
            Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik
            EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher
            D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL,
            Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney ASF, Doring
            A, Elliott P, Epstein SE, Ingi Eyjolfsson G, Gigante B, Goodarzi
            MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL,
            Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones
            MR, Kaleebu P, Kastelein JJP, Khaw KT, Kim E, Klopp N, Komulainen
            P, Kumari M, Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos
            RJF, Mach F, McArdle WL, Meisinger C, Mitchell BD, Muller G,
            Nagaraja R, Narisu N, Nieminen TVM, Nsubuga RN, Olafsson I, Ong KK,
            Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP,
            Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl
            H, Seeley J, Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret
            L, Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga
            C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH,
            Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud
            M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier
            M, Campbell H, Chakravarti A, Chambers JC, Chen YI, Collins FS,
            Cooper RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrieres
            J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V,
            Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN,
            Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K,
            Iribarren C, Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A,
            Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J,
            Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz
            W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L,
            Morris AD, Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller
            PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D,
            Salomaa V, Sanghera DK, Saramies J, Schwarz PEH, Sheu WH, Shuldiner
            AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO,
            Tremoli E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P,
            Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BHR, Ordovas
            JM, Boerwinkle E, Palmer CNA, Thorsteinsdottir U, Chasman DI,
            Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS,
            Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E and
            Abecasis GR.
  CONSRTM   Global Lipids Genetics Consortium
  TITLE     Discovery and refinement of loci associated with lipid levels
  JOURNAL   Nat Genet 45 (11), 1274-1283 (2013)
   PUBMED   24097068
REFERENCE   4  (residues 1 to 1042)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   5  (residues 1 to 1042)
  AUTHORS   Yang Q, Kottgen A, Dehghan A, Smith AV, Glazer NL, Chen MH, Chasman
            DI, Aspelund T, Eiriksdottir G, Harris TB, Launer L, Nalls M,
            Hernandez D, Arking DE, Boerwinkle E, Grove ML, Li M, Linda Kao WH,
            Chonchol M, Haritunians T, Li G, Lumley T, Psaty BM, Shlipak M,
            Hwang SJ, Larson MG, O'Donnell CJ, Upadhyay A, van Duijn CM, Hofman
            A, Rivadeneira F, Stricker B, Uitterlinden AG, Pare G, Parker AN,
            Ridker PM, Siscovick DS, Gudnason V, Witteman JC, Fox CS and Coresh
            J.
  TITLE     Multiple genetic loci influence serum urate levels and their
            relationship with gout and cardiovascular disease risk factors
  JOURNAL   Circ Cardiovasc Genet 3 (6), 523-530 (2010)
   PUBMED   20884846
  REMARK    GeneRIF: Meta-analysis and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   6  (residues 1 to 1042)
  AUTHORS   Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM,
            Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ,
            Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts
            SL, Bis JC, Aulchenko YS, Thorleifsson G, Feitosa MF, Chambers J,
            Orho-Melander M, Melander O, Johnson T, Li X, Guo X, Li M, Shin Cho
            Y, Jin Go M, Jin Kim Y, Lee JY, Park T, Kim K, Sim X, Twee-Hee Ong
            R, Croteau-Chonka DC, Lange LA, Smith JD, Song K, Hua Zhao J, Yuan
            X, Luan J, Lamina C, Ziegler A, Zhang W, Zee RY, Wright AF,
            Witteman JC, Wilson JF, Willemsen G, Wichmann HE, Whitfield JB,
            Waterworth DM, Wareham NJ, Waeber G, Vollenweider P, Voight BF,
            Vitart V, Uitterlinden AG, Uda M, Tuomilehto J, Thompson JR, Tanaka
            T, Surakka I, Stringham HM, Spector TD, Soranzo N, Smit JH,
            Sinisalo J, Silander K, Sijbrands EJ, Scuteri A, Scott J,
            Schlessinger D, Sanna S, Salomaa V, Saharinen J, Sabatti C,
            Ruokonen A, Rudan I, Rose LM, Roberts R, Rieder M, Psaty BM,
            Pramstaller PP, Pichler I, Perola M, Penninx BW, Pedersen NL,
            Pattaro C, Parker AN, Pare G, Oostra BA, O'Donnell CJ, Nieminen MS,
            Nickerson DA, Montgomery GW, Meitinger T, McPherson R, McCarthy MI,
            McArdle W, Masson D, Martin NG, Marroni F, Mangino M, Magnusson PK,
            Lucas G, Luben R, Loos RJ, Lokki ML, Lettre G, Langenberg C, Launer
            LJ, Lakatta EG, Laaksonen R, Kyvik KO, Kronenberg F, Konig IR, Khaw
            KT, Kaprio J, Kaplan LM, Johansson A, Jarvelin MR, Janssens AC,
            Ingelsson E, Igl W, Kees Hovingh G, Hottenga JJ, Hofman A, Hicks
            AA, Hengstenberg C, Heid IM, Hayward C, Havulinna AS, Hastie ND,
            Harris TB, Haritunians T, Hall AS, Gyllensten U, Guiducci C, Groop
            LC, Gonzalez E, Gieger C, Freimer NB, Ferrucci L, Erdmann J,
            Elliott P, Ejebe KG, Doring A, Dominiczak AF, Demissie S, Deloukas
            P, de Geus EJ, de Faire U, Crawford G, Collins FS, Chen YD,
            Caulfield MJ, Campbell H, Burtt NP, Bonnycastle LL, Boomsma DI,
            Boekholdt SM, Bergman RN, Barroso I, Bandinelli S, Ballantyne CM,
            Assimes TL, Quertermous T, Altshuler D, Seielstad M, Wong TY, Tai
            ES, Feranil AB, Kuzawa CW, Adair LS, Taylor HA Jr, Borecki IB,
            Gabriel SB, Wilson JG, Holm H, Thorsteinsdottir U, Gudnason V,
            Krauss RM, Mohlke KL, Ordovas JM, Munroe PB, Kooner JS, Tall AR,
            Hegele RA, Kastelein JJ, Schadt EE, Rotter JI, Boerwinkle E,
            Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ,
            Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn
            CM, Peltonen L, Abecasis GR, Boehnke M and Kathiresan S.
  TITLE     Biological, clinical and population relevance of 95 loci for blood
            lipids
  JOURNAL   Nature 466 (7307), 707-713 (2010)
   PUBMED   20686565
REFERENCE   7  (residues 1 to 1042)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   8  (residues 1 to 1042)
  AUTHORS   Jiang JX, Deprez RH, Zwarthoff EC and Riegman PH.
  TITLE     Characterization of four novel CAG repeat-containing cDNAs
  JOURNAL   Genomics 30 (1), 91-93 (1995)
   PUBMED   8595911
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC126614.8 and AC137834.9.
            On May 4, 2017 this sequence version replaced XP_016874495.1.
            
            Transcript Variant: This variant (7), as well as variants 5 and 6,
            encodes the longest isoform (4).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.219394.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1042
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     Protein         1..1042
                     /product="R3H domain-containing protein 2 isoform 4"
                     /note="R3H domain-containing protein 2"
                     /calculated_mol_wt=114523
     Region          168..229
                     /region_name="R3H_encore_like"
                     /note="R3H domain of encore-like and DIP1-like proteins.
                     Drosophila encore is involved in the germline exit after
                     four mitotic divisions, by facilitating
                     SCF-ubiquitin-proteasome-dependent proteolysis. Maize
                     DBF1-interactor protein 1 (DIP1) containing an R3H...;
                     cd02642"
                     /db_xref="CDD:100071"
     Site            order(201,205)
                     /site_type="other"
                     /note="RxxxH motif"
                     /db_xref="CDD:100071"
     Region          250..303
                     /region_name="SUZ"
                     /note="SUZ domain; pfam12752"
                     /db_xref="CDD:432761"
     Region          466..>774
                     /region_name="Med15"
                     /note="ARC105 or Med15 subunit of Mediator complex
                     non-fungal; pfam09606"
                     /db_xref="CDD:312941"
     CDS             1..1042
                     /gene="R3HDM2"
                     /gene_synonym="CAG6; PR01365"
                     /coded_by="NM_001351206.2:425..3553"
                     /note="isoform 4 is encoded by transcript variant 7"
                     /db_xref="GeneID:22864"
                     /db_xref="HGNC:HGNC:29167"
                     /db_xref="MIM:619886"
ORIGIN      
        1 msnsnttqet leimkesekk lveesvnknk fisktpskee iekecedtsl rqetqrrtsn
       61 hgharkraks nsklklvrsl avceesstpf adgpletqdi iqlhiscpsd keeekstkdv
      121 sekedkdknk ekiprkmlsr dssqeytdst gidlheflvn tlkknprdrm mllkleqeil
      181 efindnnnqf kkfpqmtsyh rmllhrvaay fgmdhnvdqt gkaviinkts ntripeqrfs
      241 ehikdeknte fqqrfilkrd dasmdrddnq irvplqdgrr sksieereee yqrvrerifa
      301 retgqngyln dirlskeafs ssshkrrqif rgnreglsrt sssrqsstds elksleprpw
      361 sstdsdgsvr smrppvtkas sfsgisiltr gdsigsskgg sagrisrpgm algapevcnq
      421 vtssqsvrgl lpctaqqqqq qqqqqlpalp ptpqqqppln nhmisqpvpa lqpspqpvqf
      481 spsscpqvll pvsppqqynm addlsnpfgq mslsrqgste aadpsaalfq tplisqhpqq
      541 tsfimastgq plptsnysts shapptqqvl ppqgymqppq qiqvsyyppg qypnsnqqyr
      601 plshpvaysp qrgqqlpqps qqpglqpmmp nqqqaayqgm igvqqpqnqg llssqrssmg
      661 gqmqglvvqy tplpsyqvpv gsdsqnvvqp pfqqpmlvpv sqsvqgglpa agvpvyysmi
      721 ppaqqngtsp svgflqppgs eqyqmpqsps pcsppqmpqq ysgvspsgpg vvvmqlnvpn
      781 gpqppqnpsm vqwshckyys mdqrgqkpgd lyspdsspqa ntqmssspvt sptqspapsp
      841 vtslssvctg lsplpvltqf prpggpaqgd grysllgqpl qynlsicppl lhgqstytvh
      901 qgqsglkhgn rgkrqalksa stdlgtadvv lgrvlevtdl pegitrtead klftqlamsg
      961 akiqwlkdaq glpgggggdn sgtaengrhs dlaalytiva vfpsplaaqn aslrlnnsvs
     1021 rfklrmakkn ydlrileras sq
//
LOCUS       NP_001363487             341 aa            linear   PRI 28-DEC-2022
DEFINITION  arfaptin-2 isoform 2 [Homo sapiens].
ACCESSION   NP_001363487 XP_005252897
VERSION     NP_001363487.1
DBSOURCE    REFSEQ: accession NM_001376558.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 341)
  AUTHORS   Qin K, Tian G, Zhou D and Chen G.
  TITLE     Circular RNA circ-ARFIP2 regulates proliferation, migration and
            invasion in human vascular smooth muscle cells via
            miR-338-3p-dependent modulation of KDR
  JOURNAL   Metab Brain Dis 36 (6), 1277-1288 (2021)
   PUBMED   33837886
  REMARK    GeneRIF: Circular RNA circ-ARFIP2 regulates proliferation,
            migration and invasion in human vascular smooth muscle cells via
            miR-338-3p-dependent modulation of KDR.
REFERENCE   2  (residues 1 to 341)
  AUTHORS   Nguyen TN, Padman BS, Zellner S, Khuu G, Uoselis L, Lam WK,
            Skulsuppaisarn M, Lindblom RSJ, Watts EM, Behrends C and Lazarou M.
  TITLE     ATG4 family proteins drive phagophore growth independently of the
            LC3/GABARAP lipidation system
  JOURNAL   Mol Cell 81 (9), 2013-2030 (2021)
   PUBMED   33773106
REFERENCE   3  (residues 1 to 341)
  AUTHORS   Poh J, Ponsford AH, Boyd J, Woodsmith J, Stelzl U, Wanker E, Harper
            N, MacEwan D and Sanderson CM.
  TITLE     A functionally defined high-density NRF2 interactome reveals new
            conditional regulators of ARE transactivation
  JOURNAL   Redox Biol 37, 101686 (2020)
   PUBMED   32911434
REFERENCE   4  (residues 1 to 341)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 341)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 341)
  AUTHORS   Shin OH and Exton JH.
  TITLE     Differential binding of arfaptin 2/POR1 to ADP-ribosylation factors
            and Rac1
  JOURNAL   Biochem Biophys Res Commun 285 (5), 1267-1273 (2001)
   PUBMED   11478794
REFERENCE   7  (residues 1 to 341)
  AUTHORS   Tarricone C, Xiao B, Justin N, Walker PA, Rittinger K, Gamblin SJ
            and Smerdon SJ.
  TITLE     The structural basis of Arfaptin-mediated cross-talk between Rac
            and Arf signalling pathways
  JOURNAL   Nature 411 (6834), 215-219 (2001)
   PUBMED   11346801
REFERENCE   8  (residues 1 to 341)
  AUTHORS   D'Souza-Schorey C, Boshans RL, McDonough M, Stahl PD and Van Aelst
            L.
  TITLE     A role for POR1, a Rac1-interacting protein, in ARF6-mediated
            cytoskeletal rearrangements
  JOURNAL   EMBO J 16 (17), 5445-5454 (1997)
   PUBMED   9312003
REFERENCE   9  (residues 1 to 341)
  AUTHORS   Kanoh H, Williger BT and Exton JH.
  TITLE     Arfaptin 1, a putative cytosolic target protein of ADP-ribosylation
            factor, is recruited to Golgi membranes
  JOURNAL   J Biol Chem 272 (9), 5421-5429 (1997)
   PUBMED   9038142
REFERENCE   10 (residues 1 to 341)
  AUTHORS   Van Aelst L, Joneson T and Bar-Sagi D.
  TITLE     Identification of a novel Rac1-interacting protein involved in
            membrane ruffling
  JOURNAL   EMBO J 15 (15), 3778-3786 (1996)
   PUBMED   8670882
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC084337.7.
            On Nov 16, 2019 this sequence version replaced XP_005252897.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3440786.1,
                                           SRR11853563.4797.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2159931
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396777.8/ ENSP00000379998.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..341
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..341
                     /product="arfaptin-2 isoform 2"
                     /note="partner of RAC1 (arfaptin 2)"
                     /calculated_mol_wt=37725
     Region          46..85
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P53365.1)"
     Site            72
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P53365.1)"
     Site            76
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P53365.1)"
     Region          136..323
                     /region_name="BAR_Arfaptin"
                     /note="The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin;
                     cd07660"
                     /db_xref="CDD:153344"
     Site            order(139..140,146,150,153,156..157,160,163..164,168,
                     170..171,174,177..178,181..182,184..185,188,192,290,
                     294..295,298..299,301..302,309..310,312..313)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153344"
     Site            order(145,148,151..152,155..156,158..160,162..163,197,200,
                     204,207..208)
                     /site_type="other"
                     /note="Rac binding site [polypeptide binding]"
                     /db_xref="CDD:153344"
     CDS             1..341
                     /gene="ARFIP2"
                     /gene_synonym="POR1"
                     /coded_by="NM_001376558.2:144..1169"
                     /note="isoform 2 is encoded by transcript variant 13"
                     /db_xref="CCDS:CCDS7765.1"
                     /db_xref="GeneID:23647"
                     /db_xref="HGNC:HGNC:17160"
                     /db_xref="MIM:601638"
ORIGIN      
        1 mtdgilgkaa tmeipihgng earqlpeddg leqdlqqvmv sgpnlnetsi vsggyggsgd
       61 gliptgsgrh pshsttpsgp gdevargiag ekfdivkkwg intykctkql lserfgrgsr
      121 tvdlelelqi ellretkrky esvlqlgral tahlysllqt qhalgdafad lsqkspelqe
      181 efgynaetqk llckngetll gavnffvssi ntlvtktmed tlmtvkqyea arleydayrt
      241 dleelslgpr dagtrgrles aqatfqahrd kyeklrgdva iklkfleenk ikvmhkqlll
      301 fhnavsayfa gnqkqleqtl qqfniklrpp gaekpswlee q
//
LOCUS       NP_001371617             900 aa            linear   PRI 29-DEC-2022
DEFINITION  band 4.1-like protein 3 isoform 8 [Homo sapiens].
ACCESSION   NP_001371617 XP_016881119
VERSION     NP_001371617.1
DBSOURCE    REFSEQ: accession NM_001384688.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 900)
  AUTHORS   Dickey BL, Nedjai B, Preece MD, Schell MJ, Boulware D, Whiting J,
            Sirak B, Abrahamsen M, Isaacs-Soriano KA, Kennedy K, Chung CH and
            Giuliano AR.
  TITLE     Methylation of HPV16 and EPB41L3 in oral gargles and the detection
            of early and late oropharyngeal cancer
  JOURNAL   Cancer Med 11 (20), 3735-3742 (2022)
   PUBMED   35619332
  REMARK    GeneRIF: Methylation of HPV16 and EPB41L3 in oral gargles and the
            detection of early and late oropharyngeal cancer.
REFERENCE   2  (residues 1 to 900)
  AUTHORS   Tuerxun G, Abulimiti T, Abudurexiti G, Abuduxikuer G, Zhang Y and
            Abulizi G.
  TITLE     Over-expression of EPB41L3 promotes apoptosis of human cervical
            carcinoma cells through PI3K/AKT signaling
  JOURNAL   Acta Biochim Pol 69 (2), 283-289 (2022)
   PUBMED   35569139
  REMARK    GeneRIF: Over-expression of EPB41L3 promotes apoptosis of human
            cervical carcinoma cells through PI3K/AKT signaling.
REFERENCE   3  (residues 1 to 900)
  AUTHORS   Zhang S, Guo M, Guo T, Yang M, Cheng J, Cui C, Kang J, Wang J, Nian
            Y, Ma W, Weng H and Weng H.
  TITLE     DAL-1/4.1B promotes the uptake of exosomes in lung cancer cells via
            Heparan Sulfate Proteoglycan 2 (HSPG2)
  JOURNAL   Mol Cell Biochem 477 (1), 241-254 (2022)
   PUBMED   34657240
  REMARK    GeneRIF: DAL-1/4.1B promotes the uptake of exosomes in lung cancer
            cells via Heparan Sulfate Proteoglycan 2 (HSPG2).
REFERENCE   4  (residues 1 to 900)
  AUTHORS   Wang H, Jiang Y, Yu L, Xu L, Guan R, Cai M, Dong K, Liang X, Bai J
            and Yu J.
  TITLE     The rs9953490 polymorphism of DAL-1 gene is associated with gastric
            cancer risk in the Han population in Northeast China
  JOURNAL   BMC Gastroenterol 21 (1), 354 (2021)
   PUBMED   34579655
  REMARK    GeneRIF: The rs9953490 polymorphism of DAL-1 gene is associated
            with gastric cancer risk in the Han population in Northeast China.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 900)
  AUTHORS   Yuan X, Piao L, Wang L, Han X, Tong L, Shao S, Xu X, Zhuang M and
            Liu Z.
  TITLE     Erythrocyte membrane protein band 4.1-like 3 inhibits osteosarcoma
            cell invasion through regulation of Snai1-induced
            epithelial-to-mesenchymal transition
  JOURNAL   Aging (Albany NY) 13 (2), 1947-1961 (2020)
   PUBMED   33323539
  REMARK    GeneRIF: Erythrocyte membrane protein band 4.1-like 3 inhibits
            osteosarcoma cell invasion through regulation of Snai1-induced
            epithelial-to-mesenchymal transition.
REFERENCE   6  (residues 1 to 900)
  AUTHORS   Tan JS, Mohandas N and Conboy JG.
  TITLE     Evolutionarily conserved coupling of transcription and alternative
            splicing in the EPB41 (protein 4.1R) and EPB41L3 (protein 4.1B)
            genes
  JOURNAL   Genomics 86 (6), 701-707 (2005)
   PUBMED   16242908
REFERENCE   7  (residues 1 to 900)
  AUTHORS   Tran YK, Bogler O, Gorse KM, Wieland I, Green MR and Newsham IF.
  TITLE     A novel member of the NF2/ERM/4.1 superfamily with growth
            suppressing properties in lung cancer
  JOURNAL   Cancer Res 59 (1), 35-43 (1999)
   PUBMED   9892180
REFERENCE   8  (residues 1 to 900)
  AUTHORS   Peters LL, Weier HU, Walensky LD, Snyder SH, Parra M, Mohandas N
            and Conboy JG.
  TITLE     Four paralogous protein 4.1 genes map to distinct chromosomes in
            mouse and human
  JOURNAL   Genomics 54 (2), 348-350 (1998)
   PUBMED   9828140
REFERENCE   9  (residues 1 to 900)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
            NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   10 (residues 1 to 900)
  AUTHORS   Adams MD, Soares MB, Kerlavage AR, Fields C and Venter JC.
  TITLE     Rapid cDNA sequencing (expressed sequence tags) from a
            directionally cloned human infant brain cDNA library
  JOURNAL   Nat Genet 4 (4), 373-380 (1993)
   PUBMED   8401585
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP005059.2 and AP005671.2.
            On Jun 26, 2020 this sequence version replaced XP_016881119.1.
            
            Transcript Variant: This variant (12), as well as variant 11,
            encodes isoform 8.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.225417.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..900
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.31"
     Protein         1..900
                     /product="band 4.1-like protein 3 isoform 8"
                     /note="band 4.1-like protein 3; differentially expressed
                     in adenocarcinoma of the lung protein 1"
                     /calculated_mol_wt=100178
     Region          1..43
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2J2.2)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2J2.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylthreonine, in Band 4.1-like protein 3,
                     N-terminally processed.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2J2.2)"
     Site            88
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9WV92; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2J2.2)"
     Region          112..301
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          296..389
                     /region_name="FERM_C_4_1_family"
                     /note="FERM domain C-lobe of Protein 4.1 family; cd13184"
                     /db_xref="CDD:270005"
     Site            order(305,322,324,330)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270005"
     Site            order(334,339..342,377,381,384..385)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Site            377..388
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Region          398..441
                     /region_name="FA"
                     /note="FERM adjacent (FA); pfam08736"
                     /db_xref="CDD:430180"
     Site            420
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2J2.2)"
     Site            443
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9WV92; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2J2.2)"
     Site            460
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2J2.2)"
     Site            469
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2J2.2)"
     Site            492
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9WV92; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2J2.2)"
     Region          530..578
                     /region_name="SAB"
                     /note="SAB domain; pfam04382"
                     /db_xref="CDD:427911"
     Region          786..892
                     /region_name="4_1_CTD"
                     /note="4.1 protein C-terminal domain (CTD); pfam05902"
                     /db_xref="CDD:428665"
     CDS             1..900
                     /gene="EPB41L3"
                     /gene_synonym="4.1B; DAL-1; DAL1"
                     /coded_by="NM_001384688.1:134..2836"
                     /note="isoform 8 is encoded by transcript variant 12"
                     /db_xref="GeneID:23136"
                     /db_xref="HGNC:HGNC:3380"
                     /db_xref="MIM:605331"
ORIGIN      
        1 mttesgsdse skpdqeaepq eaagaqgrag apvpeppkee qqqaleqfaa aaahstpvrr
       61 evtdkeqefa araakqleyq qleddklsqk ssssklsrsp lkivkkpksm qckvilldgs
      121 eytcdvekrs rgqvlfdkvc ehlnllekdy fgltyrdaen qknwldpake ikkqvrsgaw
      181 hfsfnvkfyp pdpaqlsedi tryylclqlr ddivsgrlpc sfvtlallgs ytvqselgdy
      241 dpdecgsdyi sefrfapnht keledkviel hkshrgmtpa eaemhflena kklsmygvdl
      301 hhakdsegve imlgvcasgl liyrdrlrin rfawpkvlki sykrnnfyik irpgefeqfe
      361 stigfklpnh raakrlwkvc vehhtffrll lpeappkkfl tlgskfrysg rtqaqtrras
      421 alidrpapyf erssskrytm srsldgevgt gqyattkgis qtnlittvtp ekkaeeerde
      481 eedkrrkgee vtpisairhe gktdsertdt aadgettate sdqeedaelk aqelektqdd
      541 lmkhqtnise lkrtfletst dtavtnewek rlstspvrla arqedapmie plvpeetkqs
      601 sgeklmdgse ifsllesark ptefiggvts tsqswvqkme tktessgiet eptvhhlpls
      661 tekvvqetvl veerrvvhas gdasysagds gdaaaqpaft gikgkegsal tegakeegge
      721 evakavleqe etaaasrerq eeqsaaihis etleqkphfe sstvktetis fgsvspggvk
      781 leistkevpv vhtetktity essqvdpgtd lepgvlmsaq titsettstt ttthitktvk
      841 ggisetriek rivitgdadi dhdqalaqai keakeqhpdm svtkvvvhke teitpedged
//
LOCUS       NP_001373965             267 aa            linear   PRI 30-DEC-2022
DEFINITION  ataxin-3-like protein isoform 2 [Homo sapiens].
ACCESSION   NP_001373965
VERSION     NP_001373965.1
DBSOURCE    REFSEQ: accession NM_001387036.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 267)
  AUTHORS   Ge F, Chen W, Qin J, Zhou Z, Liu R, Liu L, Tan J, Zou T, Li H, Ren
            G and Chen C.
  TITLE     Ataxin-3 like (ATXN3L), a member of the Josephin family of
            deubiquitinating enzymes, promotes breast cancer proliferation by
            deubiquitinating Kruppel-like factor 5 (KLF5)
  JOURNAL   Oncotarget 6 (25), 21369-21378 (2015)
   PUBMED   26079537
  REMARK    GeneRIF: ATXN3L has a role in the regulation of KLF5 stability in
            breast cancer
REFERENCE   2  (residues 1 to 267)
  AUTHORS   Weeks SD, Grasty KC, Hernandez-Cuebas L and Loll PJ.
  TITLE     Crystal structure of a Josephin-ubiquitin complex: evolutionary
            restraints on ataxin-3 deubiquitinating activity
  JOURNAL   J Biol Chem 286 (6), 4555-4565 (2011)
   PUBMED   21118805
REFERENCE   3  (residues 1 to 267)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D,
            Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL,
            Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles
            ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman
            R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P,
            Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E,
            Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA,
            Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A,
            Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM,
            Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N,
            Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford
            EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J,
            Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E,
            Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke
            G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V,
            Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis
            C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H,
            Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ,
            Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL,
            Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert
            J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock
            R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD,
            Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M,
            Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob
            L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S,
            Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A,
            Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L,
            Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD,
            Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall
            J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G,
            Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N,
            Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R,
            Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM,
            Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S,
            Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C,
            Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC,
            Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor
            PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K,
            Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana
            D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A,
            Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G,
            Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL,
            Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D,
            Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ,
            Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M,
            Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T,
            Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   4  (residues 1 to 267)
  AUTHORS   Ichikawa Y, Goto J, Hattori M, Toyoda A, Ishii K, Jeong SY, Hashida
            H, Masuda N, Ogata K, Kasai F, Hirai M, Maciel P, Rouleau GA,
            Sakaki Y and Kanazawa I.
  TITLE     The genomic structure and expression of MJD, the Machado-Joseph
            disease gene
  JOURNAL   J Hum Genet 46 (7), 413-422 (2001)
   PUBMED   11450850
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004674.1.
            
            Summary: This intronless gene may be a pseudogene (PMID:11450850).
            This gene is similar to the multi-exon gene which encodes ataxin 3
            and contains a coding region which could encode a protein similar
            to ataxin 3. Mutations in the gene encoding ataxin 3 are associated
            with Machado-Joseph disease. [provided by RefSeq, Sep 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.389864.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..267
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     Protein         1..267
                     /product="ataxin-3-like protein isoform 2"
                     /EC_number="3.4.19.12"
                     /note="putative ataxin-3-like protein; machado-Joseph
                     disease protein 1-like"
                     /calculated_mol_wt=30289
     Region          9..>78
                     /region_name="Josephin"
                     /note="pfam02099"
                     /db_xref="CDD:426599"
     Region          173..236
                     /region_name="SUIM_assoc"
                     /note="Unstructured region C-term to UIM in Ataxin3;
                     pfam16619"
                     /db_xref="CDD:435469"
     CDS             1..267
                     /gene="ATXN3L"
                     /gene_synonym="MJDL"
                     /coded_by="NM_001387036.1:120..923"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:92552"
                     /db_xref="HGNC:HGNC:24173"
                     /db_xref="MIM:300920"
ORIGIN      
        1 mdfifhekqe gflcaqhcln nllqgeyfsp velasiahql deeermrmae ggvtseeyla
       61 flqqpsenmd dtgffsiqgd lpdceadqll qiisveemdt pklngkklvk qkehrvyktv
      121 lekvseesde sgtsdqdeed fqralelsrq etnredehlr stielsmqgs sgntsqdlpk
      181 tscvtpaseq pkkikedyfe khqqeqkqqq qqsdlpghss ylherpttss raiesdlsdd
      241 isegtvqaav dtileimrkn lkikgek
//
LOCUS       NP_036414                142 aa            linear   PRI 14-MAR-2023
DEFINITION  potassium voltage-gated channel subfamily E regulatory beta subunit
            5 [Homo sapiens].
ACCESSION   NP_036414
VERSION     NP_036414.1
DBSOURCE    REFSEQ: accession NM_012282.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 142)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 142)
  AUTHORS   Lin Y, Huang J, He S, Feng R, Zhong Z, Liu Y, Ye W, Li X, Liao H,
            Fei H, Rao F, Shan Z, Deng C, Zhan X, Xue Y, Liu H, Zhang B, Wang
            K, Zhang Q, Wu S and Lin X.
  TITLE     Case report of familial sudden cardiac death caused by a DSG2
            p.F531C mutation as genetic background when carrying with
            heterozygous KCNE5 p.D92E/E93X mutation
  JOURNAL   BMC Med Genet 19 (1), 148 (2018)
   PUBMED   30129429
  REMARK    GeneRIF: Carriers of DSG2p.F531C showed various phenotypes.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 142)
  AUTHORS   Abbott GW.
  TITLE     KCNE4 and KCNE5: K(+) channel regulation and cardiac
            arrhythmogenesis
  JOURNAL   Gene 593 (2), 249-260 (2016)
   PUBMED   27484720
  REMARK    Review article
REFERENCE   4  (residues 1 to 142)
  AUTHORS   David JP, Stas JI, Schmitt N and Bocksteins E.
  TITLE     Auxiliary KCNE subunits modulate both homotetrameric Kv2.1 and
            heterotetrameric Kv2.1/Kv6.4 channels
  JOURNAL   Sci Rep 5, 12813 (2015)
   PUBMED   26242757
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 142)
  AUTHORS   Palmer BR, Frampton CM, Skelton L, Yandle TG, Doughty RN, Whalley
            GA, Ellis CJ, Troughton RW, Richards AM and Cameron VA.
  TITLE     KCNE5 polymorphism rs697829 is associated with QT interval and
            survival in acute coronary syndromes patients
  JOURNAL   J Cardiovasc Electrophysiol 23 (3), 319-324 (2012)
   PUBMED   21985337
  REMARK    GeneRIF: common single nucleotide polymorphism (SNP) from KCNE5,
            and ECG measurements and survival in postacute acute coronary
            syndrome patients
REFERENCE   6  (residues 1 to 142)
  AUTHORS   Yang Y, Xia M, Jin Q, Bendahhou S, Shi J, Chen Y, Liang B, Lin J,
            Liu Y, Liu B, Zhou Q, Zhang D, Wang R, Ma N, Su X, Niu K, Pei Y, Xu
            W, Chen Z, Wan H, Cui J, Barhanin J and Chen Y.
  TITLE     Identification of a KCNE2 gain-of-function mutation in patients
            with familial atrial fibrillation
  JOURNAL   Am J Hum Genet 75 (5), 899-905 (2004)
   PUBMED   15368194
REFERENCE   7  (residues 1 to 142)
  AUTHORS   Hofman-Bang J, Jespersen T, Grunnet M, Larsen LA, Andersen PS,
            Kanters JK, Kjeldsen K and Christiansen M.
  TITLE     Does KCNE5 play a role in long QT syndrome?
  JOURNAL   Clin Chim Acta 345 (1-2), 49-53 (2004)
   PUBMED   15193977
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 142)
  AUTHORS   Angelo K, Jespersen T, Grunnet M, Nielsen MS, Klaerke DA and Olesen
            SP.
  TITLE     KCNE5 induces time- and voltage-dependent modulation of the KCNQ1
            current
  JOURNAL   Biophys J 83 (4), 1997-2006 (2002)
   PUBMED   12324418
REFERENCE   9  (residues 1 to 142)
  AUTHORS   Piccini M, Vitelli F, Seri M, Galietta LJ, Moran O, Bulfone A,
            Banfi S, Pober B and Renieri A.
  TITLE     KCNE1-like gene is deleted in AMME contiguous gene syndrome:
            identification and characterization of the human and mouse homologs
  JOURNAL   Genomics 60 (3), 251-257 (1999)
   PUBMED   10493825
REFERENCE   10 (residues 1 to 142)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301690
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL118496.22, AK314923.1 and
            BC035330.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of a family of single pass
            transmembrane domain proteins that function as ancillary subunits
            to voltage-gated potassium channels. Members of this family affect
            diverse processes in potassium channel regulation, including ion
            selectivity, voltage dependence, and anterograde recycling from the
            plasma membrane. Variants of this gene are associated with
            idiopathic ventricular fibrillation and Brugada syndrome. [provided
            by RefSeq, Nov 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: SRR3476690.1123102.1, AK223306.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372101.3/ ENSP00000361173.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..142
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     Protein         1..142
                     /product="potassium voltage-gated channel subfamily E
                     regulatory beta subunit 5"
                     /note="potassium voltage-gated channel, Isk-related
                     family, member 1-like; AMMECR2 protein; KCNE1-like;
                     potassium channel subunit beta MiRP4; potassium
                     voltage-gated channel subfamily E member 1-like protein;
                     cardiac voltage-gated potassium channel accessory subunit
                     5; AMME syndrome candidate gene 2 protein"
                     /calculated_mol_wt=14862
     Site            2
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UJ90.1)"
     Site            25
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UJ90.1)"
     Site            61..81
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJ90.1)"
     Region          119..142
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJ90.1)"
     CDS             1..142
                     /gene="KCNE5"
                     /gene_synonym="KCNE1L"
                     /coded_by="NM_012282.4:153..581"
                     /db_xref="CCDS:CCDS14547.1"
                     /db_xref="GeneID:23630"
                     /db_xref="HGNC:HGNC:6241"
                     /db_xref="MIM:300328"
ORIGIN      
        1 mncsesqrlr tllsrlllel hhrgnasglg agprpsmgmg vvpdpfvgre vtsakgdday
       61 lyillimify aclagglila ytrsrklvea kdepsqacae hewapggalt adaeaaagsq
      121 aegrrqlase glpalaqgae rv
//
LOCUS       NP_001158505             247 aa            linear   PRI 19-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF182 [Homo sapiens].
ACCESSION   NP_001158505
VERSION     NP_001158505.1
DBSOURCE    REFSEQ: accession NM_001165033.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 247)
  AUTHORS   Okamoto T, Imaizumi K and Kaneko M.
  TITLE     The Role of Tissue-Specific Ubiquitin Ligases, RNF183, RNF186,
            RNF182 and RNF152, in Disease and Biological Function
  JOURNAL   Int J Mol Sci 21 (11), 3921 (2020)
   PUBMED   32486221
  REMARK    GeneRIF: The Role of Tissue-Specific Ubiquitin Ligases, RNF183,
            RNF186, RNF182 and RNF152, in Disease and Biological Function.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 247)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 247)
  AUTHORS   Cao Y, Sun Y, Chang H, Sun X and Yang S.
  TITLE     The E3 ubiquitin ligase RNF182 inhibits TLR-triggered cytokine
            production through promoting p65 ubiquitination and degradation
  JOURNAL   FEBS Lett 593 (22), 3210-3219 (2019)
   PUBMED   31432514
  REMARK    GeneRIF: E3 ubiquitin ligase RNF182 is highly expressed in
            macrophages and is specifically upregulated by Toll-like receptors
            (TLR) stimuli (TLR4, TLR3 and TLR9 agonists). Knockdown of RNF182
            selectively amplifies TLR signaling by promoting the production of
            proinflammatory cytokines but not type I interferons in
            macrophages.
REFERENCE   4  (residues 1 to 247)
  AUTHORS   Wang JH, Wei ZF, Gao YL, Liu CC and Sun JH.
  TITLE     Activation of the mammalian target of rapamycin signaling pathway
            underlies a novel inhibitory role of ring finger protein 182 in
            ventricular remodeling after myocardial ischemia-reperfusion injury
  JOURNAL   J Cell Biochem 120 (5), 7635-7648 (2019)
   PUBMED   30450663
REFERENCE   5  (residues 1 to 247)
  AUTHORS   Charlaftis N, Suddason T, Wu X, Anwar S, Karin M and Gallagher E.
  TITLE     The MEKK1 PHD ubiquitinates TAB1 to activate MAPKs in response to
            cytokines
  JOURNAL   EMBO J 33 (21), 2581-2596 (2014)
   PUBMED   25260751
REFERENCE   6  (residues 1 to 247)
  AUTHORS   Vijai J, Kirchhoff T, Schrader KA, Brown J, Dutra-Clarke AV,
            Manschreck C, Hansen N, Rau-Murthy R, Sarrel K, Przybylo J, Shah S,
            Cheguri S, Stadler Z, Zhang L, Paltiel O, Ben-Yehuda D, Viale A,
            Portlock C, Straus D, Lipkin SM, Lacher M, Robson M, Klein RJ,
            Zelenetz A and Offit K.
  TITLE     Susceptibility loci associated with specific and shared subtypes of
            lymphoid malignancies
  JOURNAL   PLoS Genet 9 (1), e1003220 (2013)
   PUBMED   23349640
REFERENCE   7  (residues 1 to 247)
  AUTHORS   van Wijk SJ, de Vries SJ, Kemmeren P, Huang A, Boelens R, Bonvin AM
            and Timmers HT.
  TITLE     A comprehensive framework of E2-RING E3 interactions of the human
            ubiquitin-proteasome system
  JOURNAL   Mol Syst Biol 5, 295 (2009)
   PUBMED   19690564
  REMARK    Erratum:[Mol Syst Biol. 2009;5:317]
REFERENCE   8  (residues 1 to 247)
  AUTHORS   Liu QY, Lei JX, Sikorska M and Liu R.
  TITLE     A novel brain-enriched E3 ubiquitin ligase RNF182 is up regulated
            in the brains of Alzheimer's patients and targets ATP6V0C for
            degradation
  JOURNAL   Mol Neurodegener 3, 4 (2008)
   PUBMED   18298843
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL138718.17, DB176198.1, AK090576.1, BC030666.1, BC050030.1 and
            AW731636.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1-4 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK090576.1, SRR1803616.114756.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149004, SAMEA2157437
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..247
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p23"
     Protein         1..247
                     /product="E3 ubiquitin-protein ligase RNF182"
                     /EC_number="2.3.2.27"
                     /note="RING-type E3 ubiquitin transferase RNF182"
                     /calculated_mol_wt=27271
     Region          17..71
                     /region_name="RING-HC_RNF182"
                     /note="RING finger, HC subclass, found in RING finger
                     protein 182 (RNF182) and similar proteins; cd16555"
                     /db_xref="CDD:438217"
     Site            184..204
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6D2.1)"
     Site            211..231
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6D2.1)"
     CDS             1..247
                     /gene="RNF182"
                     /coded_by="NM_001165033.2:474..1217"
                     /db_xref="CCDS:CCDS4531.1"
                     /db_xref="GeneID:221687"
                     /db_xref="HGNC:HGNC:28522"
ORIGIN      
        1 masqppedta esqasdelec kicynrynlk qrkpkvlecc hrvcakclyk iidfgdspqg
       61 vivcpfcrfe tclpddevss lpddnnilvn ltcggkgkkc lpenptelll tpkrlaslvs
      121 pshtssnclv itimevqres spslsstpvv efyrpasfds vttvshnwtv wnctsllfqt
      181 sirvlvwllg llyfsslplg iyllvskkvt lgvvfvslvp sslvilmvyg fcqcvchefl
      241 dcmapps
//
LOCUS       XP_047280053            1236 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 10-like protein isoform X6
            [Homo sapiens].
ACCESSION   XP_047280053
VERSION     XP_047280053.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424097.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1236
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1236
                     /product="rho guanine nucleotide exchange factor 10-like
                     protein isoform X6"
                     /calculated_mol_wt=135088
     Region          279..463
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(285,289,387,414..415,418..419,421..422,425..426,
                     429..430,433,459,463)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          488..638
                     /region_name="PH_19"
                     /note="PH domain; pfam19057"
                     /db_xref="CDD:436928"
     Region          746..1236
                     /region_name="WD40_2"
                     /note="WD40 repeated domain; pfam19056"
                     /db_xref="CDD:436927"
     Region          884..927
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          935..964
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          973..1003
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..1236
                     /gene="ARHGEF10L"
                     /gene_synonym="GrinchGEF"
                     /coded_by="XM_047424097.1:154..3864"
                     /db_xref="GeneID:55160"
                     /db_xref="HGNC:HGNC:25540"
                     /db_xref="MIM:612494"
ORIGIN      
        1 massnpppqp aigdqlvpgv pgpsseaedd pgeafefdds ddeedtsaal gvpslaperd
       61 tdpplihlds ipvtdpdpaa appgtgvpaw vsngdaadaa fsgarhsswk rkssrridrf
      121 tfpaleedvi yddvpcespd ahqpagaern llyedahrag aprqaedlgw sssefesyse
      181 dsgeeakpev evepakhrvs fqpkmtqlmk aaksgtkdgl ektrmavmrk vsflhrkdvl
      241 gdseeedmgl levsvsdikp papelgpmpe glspqqvvrr hilgsivqse gsyveslkri
      301 lqdyrnplme mepkalsark cqvvffrvke ilhchsmfqi alssrvaewd stekigdlfv
      361 asfsksmvld vysdyvnnft samsiikkac ltkpaflefl krrqvcspdr vtlyglmvkp
      421 iqrfpqfill lqdmlkntpr ghpdrlslql alteletlae klneqkrlad qvaeiqqltk
      481 svsdrsslnk lltsgqrqll lcetltetvy gdrgqliksk errvfllndm lvcaninfkg
      541 qleisslvpl gpkyvvkwnt alpqvqvvev gqdggtydkd nvliqhsgak kasasgqaqn
      601 kvylgpprlf qelqdlqkdl avveqitlli stlhgtyqnl nmtvaqdwcl alqrlmrvke
      661 eeihsankcr lrlllpgkpd ksgrpisfmv vfitpnplsk iswvnrlhla kiglreenqp
      721 gwlcpdedkk skapfwcpil accipafssr alslqlgalv hspvncpllg fsavstslpq
      781 gylwvgggqe gaggqveifs lnrpsprtvk sfplaapvlc meyipeleee aesrdesptv
      841 adpsatvhpt iclglqdgsi llyssvdtgt qclvscrspg lqpvlclrhs pfhllaglqd
      901 gtlaayprts ggvlwdlesp pvcltvgpgp vrtllsleda vwascgprvt vleattlqpq
      961 qsfeahqdea vsvthmvkag sgvwmafssg tsirlfhtet lehlqeinia trttfllpgq
     1021 khlcvtslli cqgllwvgtd qgvivllpvp rlegipkitg kgmvslnghc gpvaflavat
     1081 silapdilrs dqeeaegpra eedkpdgqah epmpdshvgr eltrkkgill qyrlrstahl
     1141 pgpllsmrep apadgaaleh seedgsiyem addpdiwvrs rpcardahrk eicsvaiisg
     1201 gqgyrnfgsa lgssgrqapc getdstlliw qvplml
//
LOCUS       XP_047281032             778 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein R3HCC1L isoform X2 [Homo
            sapiens].
ACCESSION   XP_047281032
VERSION     XP_047281032.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425076.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..778
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..778
                     /product="coiled-coil domain-containing protein R3HCC1L
                     isoform X2"
                     /calculated_mol_wt=86163
     Region          630..694
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:450164"
     CDS             1..778
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /coded_by="XM_047425076.1:479..2815"
                     /db_xref="GeneID:27291"
                     /db_xref="HGNC:HGNC:23512"
ORIGIN      
        1 mqqesercrv rarrpdmaly vpkarrgavl lktgdeeesc gspnsvvkek qkesslsqke
       61 vfkdkpearr lninpdrkeh ncreekksst klrmdtclqk tnrvcskrgt teskevlsqg
      121 qqqgapnagv itnaplqrhf kpkkveclev ettdvtgher illsqaclei seaqvpskpf
      181 qnvefcdfsr hepdgeafed kdlegrietd tkvleilyef prvfssvmkp enmivpikls
      241 sdseivqqsm qtsdgilnps sggitttsvp gspdgvfdqt cvdfevesvg gianstgfil
      301 dqkdtdsipa tmghislses tndtvspvmi recekndsta delhvkhepp dtavlaheth
      361 rdsgfknvgd itnkacmmdt tgmscsdhvt vdspyvvavr iadetsintr sfskfvgmsa
      421 datplhvars gndtedfsnp sacsdiyges isshftestg klieslsdca sslpikkiag
      481 snyntfldse lsmlngtkvl sdsavgidlg stgdttealh elrtaeefkt eeqddsgsie
      541 fgvsfpdres ssmetsiepk atetshtegi taieeswesm fnddgdcldp rllqelsgnt
      601 ksresiqepr sdyynhevpd idlsdcefph vieiydfpqe fhtedllrvf csyqkkgfdi
      661 kwvddthalg vfsspitard algikhtmvk irplsqatra akakarayae flqpakerpe
      721 tsaalarrlv isalgvrskq sktereaelk klqearerkr leakqrediw egrdqstv
//
LOCUS       XP_011518487             273 aa            linear   PRI 20-MAR-2023
DEFINITION  NADH-cytochrome b5 reductase 2 isoform X2 [Homo sapiens].
ACCESSION   XP_011518487
VERSION     XP_011518487.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011520185.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_011518487.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..273
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..273
                     /product="NADH-cytochrome b5 reductase 2 isoform X2"
                     /calculated_mol_wt=30977
     Region          <8..217
                     /region_name="PLN02252"
                     /note="nitrate reductase [NADPH]"
                     /db_xref="CDD:215141"
     CDS             1..273
                     /gene="CYB5R2"
                     /gene_synonym="B5R.2"
                     /coded_by="XM_011520185.4:109..930"
                     /db_xref="GeneID:51700"
                     /db_xref="HGNC:HGNC:24376"
                     /db_xref="MIM:608342"
ORIGIN      
        1 mnsrrrepit lqdpeakypl pliekekish ntrrfrfglp spdhvlglpv gnyvqllaki
       61 dnelvvrayt pvssdddrgf vdliikiyfk nvhpqypegg kmtqylenmk igetiffrgp
      121 rgrlfyhgpg nlgirpdqts epkktladhl gmiaggtgit pmlqlirhit kdpsdrtrms
      181 lifanqteed ilvrkeleei arthpdqfnl wytldrppig ttsialthhg saptldhfed
      241 wslvgrgryp teqfcavplt pghtlpdnss wly
//
LOCUS       XP_047286062             318 aa            linear   PRI 20-MAR-2023
DEFINITION  purine nucleoside phosphorylase LACC1 isoform X3 [Homo sapiens].
ACCESSION   XP_047286062
VERSION     XP_047286062.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430106.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..318
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..318
                     /product="purine nucleoside phosphorylase LACC1 isoform
                     X3"
                     /calculated_mol_wt=35486
     Region          195..>303
                     /region_name="Cu-oxidase_4"
                     /note="Multi-copper polyphenol oxidoreductase laccase;
                     cl00650"
                     /db_xref="CDD:445029"
     CDS             1..318
                     /gene="LACC1"
                     /gene_synonym="C13orf31; FAMIN; JUVAR"
                     /coded_by="XM_047430106.1:796..1752"
                     /db_xref="GeneID:144811"
                     /db_xref="HGNC:HGNC:26789"
                     /db_xref="MIM:613409"
ORIGIN      
        1 maeavlidlf glklnsqknc hqtllktlna vqyhhaakak flcimccsni syerdgeqdn
       61 ceietsngls alleefeivs cpsmaatlyt ikqkideknl ssikvivprh rktlmkafid
      121 qlftdvynfe fedlqvtfrg glfkqsiein vitaqelrgi qneietflrs lpalrgklti
      181 itsslipdif ihgfttrtgg isyiptlssf nlfssskrrd pkvvvqenlr rlanaagfnv
      241 ekfyrikthh sndiwimgrk epdsydgitt nqrgvtiaal gadcipivfa dpvkkacgva
      301 hagsktfsln iskikqsk
//
LOCUS       XP_047289325             853 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF23 isoform X6 [Homo sapiens].
ACCESSION   XP_047289325
VERSION     XP_047289325.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433369.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..853
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..853
                     /product="kinesin-like protein KIF23 isoform X6"
                     /calculated_mol_wt=98045
     Region          <1..327
                     /region_name="Motor_domain"
                     /note="Myosin and Kinesin motor domain; cl22853"
                     /db_xref="CDD:451428"
     Region          <377..>570
                     /region_name="PRK03918"
                     /note="DNA double-strand break repair ATPase Rad50"
                     /db_xref="CDD:235175"
     Region          696..799
                     /region_name="MKLP1_Arf_bdg"
                     /note="Arf6-interacting domain of mitotic kinesin-like
                     protein 1; pfam16540"
                     /db_xref="CDD:435410"
     CDS             1..853
                     /gene="KIF23"
                     /gene_synonym="CDAN3A; CHO1; KNSL5; MKLP-1; MKLP1"
                     /coded_by="XM_047433369.1:435..2996"
                     /db_xref="GeneID:9493"
                     /db_xref="HGNC:HGNC:6392"
                     /db_xref="MIM:605064"
ORIGIN      
        1 mtgspgeggl lprcldmifn sigsfqakry vfksndrnsm diqcevdall erqkreampn
       61 pktssskrqv dpefadmitv qefckaeevd edsvygvfvs yieiynnyiy dlleevpfdp
      121 ikpkwnscst pmrntdfvpp qskllredkn hnmyvagcte vevksteeaf evfwrgqkkr
      181 rianthlnre ssrshsvfni klvqapldad gdnvlqekeq itisqlslvd lagsertnrt
      241 raegnrlrea gninqslmtl rtcmdvlren qmygtnkmvp yrdsklthlf knyfdgegkv
      301 rmivcvnpka edyeenlqvm rfaevtqeve varpvdkaic gltpgrryrn qprgpvgnep
      361 lvtdvvlqsf pplpsceild indeqtlprl iealekrhnl rqmmidefnk qsnafkallq
      421 efdnavlske nhmqgklnek ekmisgqkle ierlekknkt leykieilek tttiyeedkr
      481 nlqqeletqn qklqrqfsdk rrlearlqgm vtettmkwek ecerrvaakq lemqnklwvk
      541 deklkqlkai vtepktekpe rpsrerdrek vtqrsvspsp vplssnyiaq isngqqlmsq
      601 pqlhrrsnsc ssisvascis eweqkiptyn tplkvtsiar rrqqepgqsk tcivsdrrrg
      661 mywtegrevv ptfrneieie edhcgrllfq pdqnappirl rhrrsrsagd rwvdhkpasn
      721 mqtetvmqph vphaitvsva nekalakcek ymlthqelas dgeietklik gdiyktrggg
      781 qsvqftdiet lkqespngsr krrsstvapa qpdgaesewt dvetrcsvav emragsqlgp
      841 gyqhhaqpkr kkp
//
LOCUS       XP_016880291             335 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 19, mitochondrial isoform X2 [Homo
            sapiens].
ACCESSION   XP_016880291
VERSION     XP_016880291.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017024802.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Mar 26, 2018 this sequence version replaced XP_016880291.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..335
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..335
                     /product="tetratricopeptide repeat protein 19,
                     mitochondrial isoform X2"
                     /calculated_mol_wt=36890
     Region          102..>335
                     /region_name="TPR_MalT"
                     /note="MalT-like TPR region; pfam17874"
                     /db_xref="CDD:436107"
     Region          230..311
                     /region_name="TPR_12"
                     /note="Tetratricopeptide repeat; pfam13424"
                     /db_xref="CDD:315987"
     Region          230..265
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(231,234..235,238..239,248,280,283..284,287..288,
                     290..291,319,322..323,326..327,330)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          278..308
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..335
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /coded_by="XM_017024802.3:26..1033"
                     /db_xref="GeneID:54902"
                     /db_xref="HGNC:HGNC:26006"
                     /db_xref="MIM:613814"
ORIGIN      
        1 mfrllswslg rgflraagrr crgcsarllp glaggpgpev qvppsrvaph grgpgllpll
       61 aalawfsrpa aaeeeeqqga dgaaaedgad eaeaeiiqll kraklsimkd epeeaelilh
      121 dalrlayqtd nkkaitytyd lmanlafirg qlenaeqlfk atmsyllggg mkqednaiie
      181 islklasiya aqnrqefava gyefcistle ekierekela edimsveeka nthlllgmcl
      241 dacaryllfs kqpsqaqrmy ekalqiseei qgerhpqtiv lmsdlattld aqgrfdeayi
      301 ymqrasdlar qinhpelhmv lsnlaavlmh rgsgd
//
LOCUS       XP_047302500             473 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC105373397 [Homo sapiens].
ACCESSION   XP_047302500
VERSION     XP_047302500.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446544.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 38% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..473
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..473
                     /product="uncharacterized protein LOC105373397"
                     /calculated_mol_wt=50057
     CDS             1..473
                     /gene="LOC105373397"
                     /coded_by="XM_047446544.1:1..1422"
                     /db_xref="GeneID:105373397"
ORIGIN      
        1 mehsggkgdw pwgvqaaagp wgaapvtmre kwsvcakpat lrrpvleivv iilskdsaaa
       61 dshahqpays atvrvtdgpl rrkglfinlp gnlwkmlfgl etmlsphvvh glhlstqrvt
      121 ghpywlggsq dtptdpdsed iptsrppkfc flisghgvrm tdpkmidagp afeegagpkd
      181 vlwalgtree eccpfqvacs pcsflcgnti ekagkpllhq gsvwvqseat lfqlsrlhrg
      241 pssgsqgcig dplpalkaas gtlfrlsrlh rgpssgsqgs igdplpalka psgtlfrlsr
      301 lhrgpssrsq gsigdplpal kapsgtlfrl srlhrgsssr sqgcigdplp alkapsgtlf
      361 llsrlhrgps sgsqgsigdp lpalkaasgt lfqlsrlhrg pssgsqgsig dplpalkaas
      421 graehtsqas acsrhdpclp lspvkchhyl fenhqdhfsc plscvishlr kll
//
LOCUS       XP_047303508             895 aa            linear   PRI 20-MAR-2023
DEFINITION  dystroglycan 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047303508
VERSION     XP_047303508.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447552.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..895
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..895
                     /product="dystroglycan 1 isoform X1"
                     /calculated_mol_wt=97311
     Region          62..163
                     /region_name="Dystroglycan_repeat"
                     /note="Cadherin-like repeat domain of alpha dystroglycan;
                     cd11303"
                     /db_xref="CDD:206636"
     Region          182..304
                     /region_name="a_DG1_N2"
                     /note="Alpha-Dystroglycan N-terminal domain 2; pfam18424"
                     /db_xref="CDD:436491"
     Site            order(199..200,204..205,207..208,211,222..228)
                     /site_type="other"
                     /note="CA-like domain interface [polypeptide binding]"
                     /db_xref="CDD:206765"
     Region          <303..>404
                     /region_name="PRK14971"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237874"
     Region          498..602
                     /region_name="Dystroglycan_repeat"
                     /note="Cadherin-like repeat domain of alpha dystroglycan;
                     cd11303"
                     /db_xref="CDD:206636"
     Region          606..895
                     /region_name="DAG1"
                     /note="Dystroglycan (Dystrophin-associated glycoprotein
                     1); pfam05454"
                     /db_xref="CDD:428478"
     CDS             1..895
                     /gene="DAG1"
                     /gene_synonym="156DAG; A3a; AGRNR; DAG; LGMDR16; MDDGA9;
                     MDDGC7; MDDGC9"
                     /coded_by="XM_047447552.1:369..3056"
                     /db_xref="GeneID:1605"
                     /db_xref="HGNC:HGNC:2666"
                     /db_xref="MIM:128239"
ORIGIN      
        1 mrmsvglsll lplsgrtfll llsvvmaqsh wpsepseavr dwenqleasm hsvlsdlhea
       61 vptvvgipdg tavvgrsfrv tiptdliass gdiikvsaag kealpswlhw dsqshtlegl
      121 pldtdkgvhy isvsatrlga ngshipqtss vfsievyped hselqsvrta spdpgevvss
      181 acaadepvtv ltvildadlt kmtpkqridl lhrmrsfsev elhnmklvpv vnnrlfdmsa
      241 fmagpgnakk vvengallsw klgcslnqns vpdihgveap aregamsaql gypvvgwhia
      301 nkkpplpkrv rrqihatptp vtaigpptta iqeppsrivp tptspaiapp tetmappvrd
      361 pvpgkptvti rtrgaiiqtp tlgpiqptrv seagttvpgq irptmtipgy veptavatpp
      421 ttttkkprvs tpkpatpstd stttttrrpt kkprtprpvp rvttkvsitr letaspptri
      481 rtttsgvprg gepnqrpelk nhidrvdawv gtyfevkips dtfydhedtt tdklkltlkl
      541 reqqlvgeks wvqfnsnsql myglpdsshv gkheyfmhat dkgglsavda feihvhrrpq
      601 gdraparfka kfvgdpalvl ndihkkialv kklafafgdr ncstitlqni trgsivvewt
      661 nntlplepcp keqiaglsrr iaeddgkprp afsnalepdf katsitvtgs gscrhlqfip
      721 vvpprrvpse apptevpdrd peksseddvy lhtvipavvv aailliagii amicyrkkrk
      781 gkltledqat fikkgvpiif adelddskpp psssmplilq eekaplpppe ypnqsvpett
      841 plnqdtmgey tplrdedpna ppyqppppft apmegkgsrp knmtpyrspp pyvpp
//
LOCUS       XP_047305833             232 aa            linear   PRI 20-MAR-2023
DEFINITION  DCN1-like protein 4 isoform X2 [Homo sapiens].
ACCESSION   XP_047305833
VERSION     XP_047305833.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449877.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..232
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..232
                     /product="DCN1-like protein 4 isoform X2"
                     /calculated_mol_wt=27312
     Region          115..225
                     /region_name="Cullin_binding"
                     /note="Cullin binding; pfam03556"
                     /db_xref="CDD:427366"
     CDS             1..232
                     /gene="DCUN1D4"
                     /gene_synonym="DCNL4"
                     /coded_by="XM_047449877.1:180..878"
                     /db_xref="GeneID:23142"
                     /db_xref="HGNC:HGNC:28998"
                     /db_xref="MIM:612977"
ORIGIN      
        1 mpprkkrrpa sgddlsakks rhdsmyrkyd strikteeea fsskrclewf yeyagtddvv
       61 gpegmekfce digvepenvv mlvlawklda qnmgyftlqe wlkgmtslqc dtteklrntl
      121 dylrsflnds tnfkliyrya fdfarekdqr sldintakcm lglllgkiwp lfpvfhqfle
      181 qskykvinkd qwcnvlefsr tinldlsnyd edgawpvlld efvewykdkq ms
//
LOCUS       XP_047271879            1062 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ZGRF1 isoform X17 [Homo sapiens].
ACCESSION   XP_047271879
VERSION     XP_047271879.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047415923.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1062
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1062
                     /product="protein ZGRF1 isoform X17"
                     /calculated_mol_wt=119216
     Region          4..74
                     /region_name="DUF2439"
                     /note="Protein of unknown function (DUF2439); pfam10382"
                     /db_xref="CDD:431245"
     CDS             1..1062
                     /gene="ZGRF1"
                     /gene_synonym="C4orf21"
                     /coded_by="XM_047415923.1:126..3314"
                     /db_xref="GeneID:55345"
                     /db_xref="HGNC:HGNC:25654"
ORIGIN      
        1 mesqefivly thqkmkkskv wqdgilkith lgnkailydd kgacleslfl kclevkpgdd
       61 lesdrylitv eevkvagaig ivkqnvnkea pelnsrtfis sgrslgcqps glkrkftgfq
      121 gprqvpkkmv imesgesaas heakktgpti fspfcsmppl fptvgkkdvn niladpeniv
      181 tyknrernam dfssvfspsf qinpevlcee nyfcspvnsg nklsdslltn epvkrdslas
      241 hysgvsqnir skaqilallk sessssceel nsemtehfpq kqpqgslkia tkpkyliqqe
      301 ecaemksten lyyqhqsent mrnksrwamy lssqsspihs stvdgndter kpkaqeddvn
      361 snlkdlslqk iiqfvetyae erkkynvdqs vgnndpswnq evkleipsfn essslqvtcs
      421 saendgilse sdiqednkip fnqndkgcik gsvlikenaq evntcgtlek eyeqsesslp
      481 elkhlqiess nnsrisddit dmiseskmdn eslnsihesl snvtqpflev tfnlnnfets
      541 dteeesqesn kisqdseswv kdilvndgns cfqkrsentn ceeiegehlp fltsvsdkpt
      601 vtfpvketlp sqfcdktyvg fdmgickten tgkeieeysd tlsnfesfkw tdavygdnke
      661 dankpiqevr inydfalppn kskginmnlh iphiqnqiae nsnlfsedaq pqpfilgsdl
      721 dkndehvlps tsssdnsvql lntnqnhyec ialdksnthi snslfyplgk khliskdtea
      781 hisepedlgk irspppdhve vetaregkqy wnprnssels glvntisilk slcehstald
      841 sleilkkknt vfqqgtqqty epdsppevrk pfitvvspks phlhkdsqqi lkedevelse
      901 plqsvqfsss gskeetafqa vipkqierkt cdpkpvefqg hqvkgsatsg vmvrghssql
      961 gcsqfpdste yenfmtetpe lpstcmqidf lqvtspeeni stlspvstfs lnsrdedfmv
     1021 efsetslkar tlpddlhfln legsryhial isvysfkmkf fi
//
LOCUS       XP_047271973            1047 aa            linear   PRI 20-MAR-2023
DEFINITION  folliculin-interacting protein 2 isoform X4 [Homo sapiens].
ACCESSION   XP_047271973
VERSION     XP_047271973.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416017.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1047
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1047
                     /product="folliculin-interacting protein 2 isoform X4"
                     /calculated_mol_wt=114483
     Region          69..191
                     /region_name="FNIP_N"
                     /note="Folliculin-interacting protein N-terminus;
                     pfam14636"
                     /db_xref="CDD:434086"
     Region          350..583
                     /region_name="FNIP_M"
                     /note="Folliculin-interacting protein middle domain;
                     pfam14637"
                     /db_xref="CDD:434087"
     Region          980..>1036
                     /region_name="FNIP_C"
                     /note="Folliculin-interacting protein C-terminus;
                     pfam14638"
                     /db_xref="CDD:434088"
     CDS             1..1047
                     /gene="FNIP2"
                     /gene_synonym="FNIPL; MAPO1"
                     /coded_by="XM_047416017.1:410..3553"
                     /db_xref="GeneID:57600"
                     /db_xref="HGNC:HGNC:29280"
                     /db_xref="MIM:612768"
ORIGIN      
        1 mcggtanttn qpeswqdsar cvsdavpgag riyrallctk ikkhtgvdrs tdhteldnsw
       61 scsefdlnei rlivyqdcdr rgrqvlfdsk avqkieevta qktedvpiki sakccqgsss
      121 vsssssssis shsssggssh hakeqlpkyq ytrpasdvnm lgemmfgsva msykgstlki
      181 hyirsppqlm iskvfsarmg sfcgstnnlq dsfeyinqdp nlgklntnqn slgpcrtgsn
      241 lgllqacssk llqgvaeggp lrltrsasff aahstpvdmp srgqnedrds giarsaslss
      301 llitpfpsps sstsssssyq rrwlrsqtts lengiiprrs tdetfslaee tcssnpamvr
      361 rkkiaisiif slcekeeaqr nfqdfffshf plfeshmnrl ksaiekamis crkiaesslr
      421 vqfyvsrlme algefrgtiw nlysvpriae pvwltmmsgt leknqlcqrf lkeftllieq
      481 inknqffaal ltavltyhla wvptvmpvdh ppikafsekr tsqsvnmlak thpynplwaq
      541 lgdlygaigs pvrltrtvvv gkqkdlvqri lyvltyflrc selqenqltw sgnhgegdqv
      601 lngskiital ekgeveesey vvitvrnepa lvppilppta aerhnpwptg fpecpegtds
      661 rdlglkpdke anrrpeqgse acsagclgpa sdaswkpqna fcgdeknkea pqdgssrlps
      721 cevlgagmkm dqqavcellk vemptrlpdr svawpcpdrh lrekpslekv tfqigsfasp
      781 esdfesrmkk meervkacgp sleaseaadv aqdpqvsrsp fkpgfqenvc cpqnrlsegd
      841 egesdkgfae drgsrndmaa diagqlshaa dlgtashgag gtggrrleat rglyvkaaeg
      901 pvlepvaprc vqrgpglvag anipcgddnk kanfrtegdi prnessdsal gdsddeacas
      961 amldlghggd rtggslevel plprsqsist qnvrnfgrsl lagycptymp dlvlhgtgsd
     1021 eklkqclvad lvhtvhafnt prkwthp
//
LOCUS       XP_016864854             332 aa            linear   PRI 20-MAR-2023
DEFINITION  protein FAM153A isoform X6 [Homo sapiens].
ACCESSION   XP_016864854
VERSION     XP_016864854.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017009365.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..332
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..332
                     /product="protein FAM153A isoform X6"
                     /calculated_mol_wt=37047
     Region          162..302
                     /region_name="FAM153"
                     /note="FAM153 family; pfam15722"
                     /db_xref="CDD:434884"
     CDS             1..332
                     /gene="FAM153A"
                     /gene_synonym="NY-REN-7"
                     /coded_by="XM_017009365.2:250..1248"
                     /db_xref="GeneID:285596"
                     /db_xref="HGNC:HGNC:29940"
ORIGIN      
        1 mnmqsdyded lvqeassedv lgvhmvdkdt erdiemkrql rrlrelhlys twkkyqeamk
       61 tslgvpqcer degslgkplc ppeilsetlp gsvkkrvcfp sedhleefia ehlpeasnqs
      121 lltvahadag tqtngdledl eehgpgqtvs eeatevhtme gdpdtlaefl irdvlqelss
      181 yngeeedpee tslgvpqrgd ledleehvpg qtvseeatgv hmmqvdpatl aksdledlee
      241 hvpeqtvsee atgvhmmqvd patlakqled stitgshqqm saspssapae eatektkvee
      301 evktrkpkkk trkpskksrw nvlkcwdifn if
//
LOCUS       XP_054193257             470 aa            linear   PRI 20-MAR-2023
DEFINITION  protoporphyrinogen oxidase isoform X12 [Homo sapiens].
ACCESSION   XP_054193257
VERSION     XP_054193257.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054337282.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..470
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..470
                     /product="protoporphyrinogen oxidase isoform X12"
                     /calculated_mol_wt=50619
     CDS             1..470
                     /gene="PPOX"
                     /gene_synonym="PPO; V290M; VP"
                     /coded_by="XM_054337282.1:221..1633"
                     /db_xref="GeneID:5498"
                     /db_xref="HGNC:HGNC:9280"
                     /db_xref="MIM:600923"
ORIGIN      
        1 meppprglal svpiyspydq sscglpsrvv tlagpgfrmg rtvvvlgggi sglaasyhls
       61 rapcppkvvl vesserlggw irsvrgpnga ifelgprgir pagalgartl llacgeqvse
      121 lgldsevlpv rgdhpaaqnr flyvggalha lptglrgllr psppfskplf waglreltkp
      181 rgkepdetvh sfaqrrlgpe vaslamdslc rgvfagnsre lsirscfpsl fqaeqthrsi
      241 llglllgagr tpqpdsalir qalaerwsqw slrgglemlp qalethltsr gvsvlrgqpv
      301 cglslqaegr wkvmlggswl qtleasgcvl sqelfqqraq eaaatqlglk empshclvhl
      361 hktknqlkwr qshdrtvewp keypgrsrkq apsilhvpgc qllrcrdrdh lgaasvsths
      421 qrtylvfccl sspppqqpgr hrcrhlgsgr cgggvsrhga gprggatrad
//
LOCUS       XP_054194689             716 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 13 isoform X13 [Homo sapiens].
ACCESSION   XP_054194689
VERSION     XP_054194689.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338714.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..716
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..716
                     /product="tetratricopeptide repeat protein 13 isoform X13"
                     /calculated_mol_wt=80353
     CDS             1..716
                     /gene="TTC13"
                     /coded_by="XM_054338714.1:32..2182"
                     /db_xref="GeneID:79573"
                     /db_xref="HGNC:HGNC:26204"
ORIGIN      
        1 mapagccccc cfwggavaaa gaarrvllll llgvlsaglr pgalatehys plsllkqelq
       61 hrqqqeapag gggcspqsgd wgdqysaecg essflnfhds dcepkgsspc dsllslntek
      121 ilsqaksiae qkrfpfatdn dstneelaia yvligsglyd eairhfstml qeaiesfkea
      181 lkqkvdfida ykslgqayre lgnfeaates fqkalllnqn hvqtlqlrgm mlyhhgslqe
      241 alknfkrclq lepynevcqy mkglshvamg qfyegikaqt kvmlndplpg qkaspeylkv
      301 kylreysryl hahldtplte ynidvdlpgs fkdhwaknlp fliedyeeqp glqphikdvl
      361 hqnfesykpe vqelicvadr lgslmqyetp gflpnkrihr amglaalevm qavqrtwtns
      421 kvrmngktrl mqwrdmfdia vkwrriadpd qpvlwldqmp arslsrgfnn hinlirgqvi
      481 nmryleyfek ilhfikdril vyhgannpkg llevrealek vhkvedllpi mkqfntktkd
      541 gftvntkvps lkdqgkeydg ftititgdkv gnilfsvetq tteertqlyh aeidalykdl
      601 takgkvlils sefgeadavc nlilslvyyf ynlmplsrgs sviaysvivg almasgkeva
      661 gkipkgklvd feamtapgse afskvakswm nlksqefyss qelsltdtvc eessrp
//
LOCUS       XP_054221560             600 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein R3HCC1L isoform X4 [Homo
            sapiens].
ACCESSION   XP_054221560
VERSION     XP_054221560.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365585.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..600
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..600
                     /product="coiled-coil domain-containing protein R3HCC1L
                     isoform X4"
                     /calculated_mol_wt=65549
     CDS             1..600
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /coded_by="XM_054365585.1:415..2217"
                     /db_xref="GeneID:27291"
                     /db_xref="HGNC:HGNC:23512"
ORIGIN      
        1 mqqesercrv rarrpdmaly vpkarrgavl lktgdeeesc gspnsvvkek qkesslsqke
       61 vfkdkpearr lninpdrkeh ncreekksst klrmdtclqk tnrvcskrgt teskevlsqg
      121 qqqgapnagv itnaplqrhf kpkkveclev ettdvtgher illsqaclei seaqvpskpf
      181 qnvefcdfsr hepdgeafed kdlegrietd tkvleilyef prvfssvmkp enmivpikls
      241 sdseivqqsm qtsdgilnps sggitttsvp gspdgvfdqt cvdfevesvg gianstgfil
      301 dqkdtdsipa tmghislses tndtvspvmi recekndsta delhvkhepp dtavlaheth
      361 rdsgfknvgd itnkacmmdt tgmscsdhvt vdspyvvavr iadetsintr sfskfvgmsa
      421 datplhvars gndtedfsnp sacsdiyges isshftestg klieslsdca sslpikkiag
      481 snyntfldse lsmlngtkvl sdsavgidlg stgdttealh elrtaeefkt eeqddsgsie
      541 fgvsfpdres ssmetsiepk atetshtegi taieeswesm fnddgdcldp rllqealvsg
//
LOCUS       XP_054222352            1067 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger MIZ domain-containing protein 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054222352
VERSION     XP_054222352.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054366377.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1067
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1067
                     /product="zinc finger MIZ domain-containing protein 1
                     isoform X2"
                     /calculated_mol_wt=115352
     CDS             1..1067
                     /gene="ZMIZ1"
                     /gene_synonym="MIZ; NEDDFSA; RAI17; TRAFIP10; ZIMP10"
                     /coded_by="XM_054366377.1:965..4168"
                     /db_xref="GeneID:57178"
                     /db_xref="HGNC:HGNC:16493"
                     /db_xref="MIM:607159"
ORIGIN      
        1 mnsmdrhiqq tndrlqcikq hlqnpanfhn aatelldwcg dprafqrpfe qslmgcltvv
       61 srvaaqqgfd ldlgyrllav caanrdkftp ksaallsswc eelgrllllr hqksrqsdpp
      121 gklpmqppls smssmkptls hsdgsfpyds vpwqqntnqp pgslsvvttv wgvtntsqsq
      181 vlgnpmanan npmnpggnpm asgmttsnpg lnspqfagqq qqfsakagpa qpyiqqsmyg
      241 rpnypgsggf gasypggpna pagmgippht rppadftqpa aaaaaaavaa aaatatatat
      301 atvaalqetq nkdinqygpm gptqaynsqf mnqpgprgpa smggsmnpas maagmtpsgm
      361 sgppmgmnqp rppgispfgt hgqrmpqqty pgprpqslpi qnikrpypge pnygnqqygp
      421 nsqfptqpgq ypapnpprpl tspnypgqrm psqpssgqyp pptvnmgqyy kpeqfngqnn
      481 tfsgssysny sqgnvnrppr pvpvanyphs pvpgnptppm tpgssippyl spsqdvkppf
      541 ppdikpnmsa lppppanhnd elrltfpvrd gvvlepfrle hnlavsnhvf hlrptvhqtl
      601 mwrsdlelqf kcyhhedrqm ntnwpasvqv svnatpltie rgdnktshkp lhlkhvcqpg
      661 rntiqitvta cccshlfvlq lvhrpsvrsv lqgllkkrll paehcitkik rnfssvaass
      721 gnttlngedg veqtaikvsl kcpitfrriq lparghdckh vqcfdlesyl qlncergtwr
      781 cpvcnktall eglevdqymw gilnaiqhse feevtidptc swrpvpiksd lhikddpdgi
      841 pskrfktmsp sqmimpnvme miaalgpgps pyplppppgg tnsndyssqg nnyqghgnfd
      901 fphgnpggts mndfmhgppq lshppdmpnn maalekplsh pmqetmphag ssdqphpsiq
      961 qglhvphpss qsgpplhhsg apppppsqpp rqppqaapss hphsdltfnp ssalegqaga
     1021 qgasdmpeps ldllpeltnp dellsyldpp dlpsnsnddl lslfenn
//
LOCUS       XP_054230508            1345 aa            linear   PRI 20-MAR-2023
DEFINITION  LIM domain only protein 7 isoform X13 [Homo sapiens].
ACCESSION   XP_054230508
VERSION     XP_054230508.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374533.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1345
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1345
                     /product="LIM domain only protein 7 isoform X13"
                     /calculated_mol_wt=153329
     CDS             1..1345
                     /gene="LMO7"
                     /gene_synonym="FBX20; FBXO20; LMO7b; LOMP"
                     /coded_by="XM_054374533.1:631..4668"
                     /db_xref="GeneID:4008"
                     /db_xref="HGNC:HGNC:6646"
                     /db_xref="MIM:604362"
ORIGIN      
        1 mqdynkddms yrrisavepk talpfnrflp nksrqpsyvp aplrkkkpdk hednrrswas
       61 pvyteadgtf ssqflllqal qtysddilss ethtkidpts gprlitrrkn lsyapgyrrd
      121 dlemaaldpd lenddffvrk tgafhanpyv lrafedfrkf seqddsverd iilqcregel
      181 vlpdlekddm ivrripaqkk evplsgapdr yhpvpfpepw tlppeiqakf lcvlertcps
      241 keksnscril vpsyrqkkdd mltrkiqswk lgttvppisf tpgpcseadl krweaireas
      301 rlrhkkrlmv erlfqkiyge ngsksmsdvs aedvqnlrql ryeemqkiks qlkeqdqkwq
      361 ddlakwkdrr ksytsdlqkk keereeiekq alekskrssk tfkemlqdre sqnqkstvps
      421 rrrmysfddv leegkrpptm tvseasyqse rveekgatyp seipkedstt fakredrvtt
      481 eiqlpsqspv eeqspaslss lrsrstqmes trvsaslprs yrktdtvrlt svvtprpfgs
      541 qtrgisslpr sytmddawky ngdvedikrt pnnvvstpap spdasqlass lssqkevaat
      601 eedvtrlpsp tspfsslsqd qaatskatls stsgldlmse sgegeispqr evsrsqdqfs
      661 dmrisinqtp gksldfgfti kwdipgifva sveagspaef sqlqvddeii ainntkfsyn
      721 dskeweeama kaqetghlvm dvrrygkadw gkdqpslpfi rhktlnltsm atkiigspet
      781 kwidatsgiy nsekssnlsv ttdfseslqs snieskeing ihdesnafes kasesislkn
      841 lkrrsqffeq gssgfsyssw vylcgssdsv vpdlpvptis apsrwvwdqe eerkrqerwq
      901 keqdrllqek yqreqeklre ewqrakqeae renskyldee lmvlssnsms lttrepslat
      961 weatwsegsk ssdregtrag eeerrqpqee vvhedqgkkp qdqlvierer kweqqlqeeq
     1021 eqkrlqaeae eqkrpaeeqk rqaeierets vriyqyrrpv dsydipktee assgflpgdr
     1081 nksrstteld dystnkngnn kyldqignmt ssqrrskkeq vpsgaelerq qilqemrkrt
     1141 plhndnswir qrsasvnkep vslpgimrrg esldnldspr snswrqppwl nqptgfyass
     1201 svqdfsrppp qlvstsnray mrnpsssvpp psagsvktst tgvattqspt prshspsasq
     1261 sgsqlrnrsv sgkricsycn nilgkgaami ieslglcyhl hcfkcvacec dlggsssgae
     1321 vrirnhqlyc ndcylrfksg rptam
//
LOCUS       XP_054196319            1085 aa            linear   PRI 20-MAR-2023
DEFINITION  formin-like protein 2 isoform X5 [Homo sapiens].
ACCESSION   XP_054196319
VERSION     XP_054196319.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340344.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1085
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1085
                     /product="formin-like protein 2 isoform X5"
                     /calculated_mol_wt=123045
     CDS             1..1085
                     /gene="FMNL2"
                     /gene_synonym="FHOD2"
                     /coded_by="XM_054340344.1:431..3688"
                     /db_xref="GeneID:114793"
                     /db_xref="HGNC:HGNC:18267"
                     /db_xref="MIM:616285"
ORIGIN      
        1 mgnagsmdsq qtdfrahnvp lklpmpepge leerfaivln amnlppdkar llrqydnekk
       61 welicdqerf qvknpphtyi qklkgyldpa vtrkkfrrrv qestqvlrel eislrtnhig
      121 wvreflneen kgldvlveyl sfaqyavtfd fesvestves svdkskpwsr siedlhrgsn
      181 lpspvgnsvs rsgrhsalry ntlpsrrtlk nsrlvskkdd vhvcimclra imnyqygfnm
      241 vmshphavne ialslnnknp rtkalvlell aavclvrggh eiilsafdnf kevcgekqrf
      301 eklmehfrne dnnidfmvas mqfinivvhs vedmnfrvhl qyeftklgld eyldklkhte
      361 sdklqvqiqa yldnvfdvga lledaetkna alerveelee nishlseklq dteneamski
      421 velekqlmqr nkeldvvrei ykdantqvht lrkmvkekee aiqrqstlek kihelekqgt
      481 ikiqkkgdgd iailpvvasg tlsmgsevva gnsvgptmga assgplpppp pplppssdtp
      541 etvqngpvtp pmpppppppp pppppppppp pppplpgpaa etvpapplap plpsapplpg
      601 tssptvvfns glaavkikkp iktkfrmpvf nwvalkpnqi ngtvfneidd eriledlnvd
      661 efeeifktka qgpaidlsss kqkipqkgsn kvtlleanra knlaitlrka gktadeicka
      721 ihvfdlktlp vdfveclmrf lptenevkvl rlyererkpl enlsdedrfm mqfskierlm
      781 qkmtimafig nfaesiqmlt pqlhaiiaas vsikssqklk kileiilalg nymnsskrga
      841 vygfklqsld llldtkstdr kqtllhyisn vvkekyhqvs lfynelhyve kaaavslenv
      901 lldvkelqrg mdltkreytm hdhntllkef ilnnegklkk lqddakiaqd afddvvkyfg
      961 enpkttppsv ffpvfvrfvk aykqaeeene lrkkqeqalm eklleqealm eqqdpkspsh
     1021 kskrqqqeli aelrrrqvkd nrhvyegkdg aiediitalk knnitkfpnv hsriletnht
     1081 depmr
//
LOCUS       XP_054199287            1083 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium channel protein type 3 subunit alpha isoform X10 [Homo
            sapiens].
ACCESSION   XP_054199287
VERSION     XP_054199287.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343312.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1083
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1083
                     /product="sodium channel protein type 3 subunit alpha
                     isoform X10"
                     /calculated_mol_wt=122543
     CDS             1..1083
                     /gene="SCN3A"
                     /gene_synonym="DEE62; EIEE62; FFEVF4; NAC3; Nav1.3"
                     /coded_by="XM_054343312.1:476..3727"
                     /db_xref="GeneID:6328"
                     /db_xref="HGNC:HGNC:10590"
                     /db_xref="MIM:182391"
ORIGIN      
        1 maqallvppg pesfrlftre slaaiekraa eekakkpkke qdnddenkpk pnsdleagkn
       61 lpfiygdipp emvsepledl dpyyinkktf ivmnkgkaif rfsatsalyi ltplnpvrki
      121 aikilvhslf smlimctilt ncvfmtlsnp pdwtknveyt ftgiytfesl ikilargfcl
      181 edftflrdpw nwldfsvivm ayvtefvdlg nvsalrtfrv lralktisvi pglktivgal
      241 iqsvkklsdv miltvfclsv faliglqlfm gnlrnkclqw ppsdsafetn ttsyfngtmd
      301 sngtfvnvtm stfnwkdyig ddshfyvldg qkdpllcgng sdagqcpegy icvkagrnpn
      361 ygytsfdtfs waflslfrlm tqdywenlyq ltlraagkty miffvlvifl gsfylvnlil
      421 avvamayeeq nqatleeaeq keaefqqmle qlkkqqeeaq avaaasaasr dfsgigglge
      481 llessseask lssksakewr nrrkkrrqre hlegnnkger dsfpksesed svkrssflfs
      541 mdgnrltsdk kfcsphqsll sirgslfspr rnsktsifsf rgrakdvgse ndfaddehst
      601 fedsesrrds lfvphrhger rnsngtttet evrkrrlssy qismemleds sgrqravsia
      661 siltntmeel eesrqkcppc wyrfanvfli wdccdawlkv khlvnlivmd pfvdlaitic
      721 ivlntlfmam ehypmteqfs svltvgnlvf tgiftaemvl kiiamdpyyy fqegwnifdg
      781 iivslslmel glsnveglsv lrsfrllrvf klakswptln mlikiignsv galgnltlvl
      841 aiivfifavv gmqlfgksyk ecvckinddc tlprwhmndf fhsflivfrv lcgewietmw
      901 dcmevagqtm clivfmlvmv ignlvvlnlf lalllssfss dnlaatdddn emnnlqiavg
      961 rmqkgidyvk nkmrecfqka ffrkpkviei hegnkidscm snntgieisk elnylrdgng
     1021 ttsgvgtgss vekyvidend ymsfinnpsl tvtvpiavge sdfenlntee fsseselees
     1081 kee
//
LOCUS       XP_054178806            1537 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptonemal complex protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054178806
VERSION     XP_054178806.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322831.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1537
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1537
                     /product="synaptonemal complex protein 2 isoform X1"
                     /calculated_mol_wt=176276
     CDS             1..1537
                     /gene="SYCP2"
                     /gene_synonym="SCP-2; SCP2; SPGF1"
                     /coded_by="XM_054322831.1:1325..5938"
                     /db_xref="GeneID:10388"
                     /db_xref="HGNC:HGNC:11490"
                     /db_xref="MIM:604105"
ORIGIN      
        1 mpirpdlqvc sprpkqlekc iddalrkndf kplktllqid icedvkikcs kqffhkvdnl
       61 icrelnkedi hnvsailvsv grcgknisvl gqaglltmik qgliqkmvaw fekskdiiqs
      121 qgnskdeavl nmiedlvdll lvihdvsdeg kkqvvesfvp ricslvidsr vniciqqeii
      181 kkmnamldkm pqdarkilsn qemlilmssm gerildagdy dlqvgiveal crmttekqrq
      241 elahqwfsmd fiakafkrik dsefetdcri flnlvngmlg dkrrvftfpc lsafldkyel
      301 qipsdeklee fwidfnlgsq tlsfyiagdn ddhqweavtv peekvqiysi evreskkllt
      361 iilkntvkis kregkellly fdasleitnv tqkifgatkh resirkqgis vaktslhilf
      421 dasgsqilvp esqispvgee lvslkeksks pkefakpsky iknsdkgnrn nsqlekttps
      481 krkmseasmi vsgadrytmr spvlfsntsi pprrrrikpp lqmtssaekp svsqtsenrv
      541 dnaaslksrs segrhrrdni dkhiktakcv entenknvef pnqnfselqd vipdsqaaek
      601 rdhtilpgvl dnicgnkihs kwacwtpvtn ielcnnqras tssgdtlnqd ivinkkltkq
      661 kssssisdhn segtgkvkyk keqtdhikid kaevevckkh nqqqnhpkys gqkntenakq
      721 sdwpvesett fksvllnkti eesliyrkky ilskdvntat cdknpsaskn vqshrkaeke
      781 ltselnswds kqkkmreksk gkeftnvaes lisqinkryk tkddikstrk lkeslinsgf
      841 snkpvvqlsk ekvqkksyrk lkttfvnvts ecpvndvynf nlngaddpii klgiqefqat
      901 akeacadrsi rlvgprnhde lkssvktkdk kiitnhqkkn lfsdteteyr cddsktdisw
      961 lrepkskpql idysrnknvk nhksgksrss lekgqpsskm tpsknitkkm dktipegrir
     1021 lprkatktkk nykdlsnses eceqefshsf kenipvkeen ihsrmktvkl pkkqqkvfca
     1081 etekelskqw knssllkdai rdncldlspr slsgspssie vtrciekite kdftqdydci
     1141 tksispypkt ssleslnsns gvggtikspk nneknflcas escspiprpl flprhtptks
     1201 ntivnrkkis slvltqetqn snsysdvssy sseerfmeie sphinenyiq skreeshlas
     1261 slskssegre ktwfdmpcda thvsgptqhl srkriyiedn lsnsneveme ekgerranll
     1321 pkklckieda dhhihkmses vsslstndfs ipwetwqnef agiemtyety erlnsefkrr
     1381 nnirhkmlsy fttqswktaq qhlrtmnhqs qdsrikkldk fqfiiieele nfekdsqslk
     1441 dlekefvdfw ekifqkfsay qkseqqrlhl lktslaksvf cntdseetvf tsemclmked
     1501 mkvlqdrllk dmleeellnv rrelmsvfms hernanv
//
LOCUS       XP_054204819             407 aa            linear   PRI 20-MAR-2023
DEFINITION  kelch-like protein 2 isoform X7 [Homo sapiens].
ACCESSION   XP_054204819
VERSION     XP_054204819.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348844.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..407
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..407
                     /product="kelch-like protein 2 isoform X7"
                     /calculated_mol_wt=45978
     CDS             1..407
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /coded_by="XM_054348844.1:262..1485"
                     /db_xref="GeneID:11275"
                     /db_xref="HGNC:HGNC:6353"
                     /db_xref="MIM:605774"
ORIGIN      
        1 mvlavlvgac vlkpershng daaaasrisl avsskcpeps qfsspplrls slshchflvn
       61 ycnillnscp lfifdpcrvf stssqsglwk tctkqghqkp ldskddntek hcpvtvnpwh
      121 mkkafkvmne lrsqnllcdv tivaedmeis ahrvvlaacs pyfhamftge msesrakrvr
      181 ikevdgwtlr mlidyvytae iqvteenvqv llpaagllql qdvkktccef lesqlhpvnc
      241 lgirafadmh actdllnkan tyaeqhfadv vlseeflnlg ieqvcsliss dkltisseek
      301 vfeaviawvn hdkdvrqefm arlmehvrlp llpreylvqr veeealvkns sackdyliea
      361 mkyhllpteq rilmksvrtr lrtpmnlpka wstwldlfll lvalmah
//
LOCUS       XP_054207760             158 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 25 member 48 isoform X13 [Homo sapiens].
ACCESSION   XP_054207760
VERSION     XP_054207760.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351785.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..158
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..158
                     /product="solute carrier family 25 member 48 isoform X13"
                     /calculated_mol_wt=16939
     CDS             1..158
                     /gene="SLC25A48"
                     /coded_by="XM_054351785.1:186..662"
                     /db_xref="GeneID:153328"
                     /db_xref="HGNC:HGNC:30451"
                     /db_xref="MIM:616150"
ORIGIN      
        1 mgsfqledfa agwiggaasv ivghpldtvk trlqagvgyg ntlscirvvy rresmfgffk
       61 gmsfplasia vynsvvfgvf sntqrflsqh rcgepeaspp rtlsdlllas mvagvvsvgl
      121 ggpvdlikir lqmqtqpfrd gshpinrsml kvsaepmm
//
LOCUS       XP_054213278            1502 aa            linear   PRI 20-MAR-2023
DEFINITION  Homeobox protein cut-like 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054213278
VERSION     XP_054213278.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357303.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1502
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1502
                     /product="Homeobox protein cut-like 1 isoform X3"
                     /calculated_mol_wt=163729
     CDS             1..1502
                     /gene="CUX1"
                     /gene_synonym="CASP; CDP; CDP/Cut; CDP1; Clox; COY1;
                     CUTL1; CUX; Cux/CDP; GDDI; GOLIM6; Nbla10317; p100; p110;
                     p200; p75"
                     /coded_by="XM_054357303.1:15..4523"
                     /db_xref="GeneID:1523"
                     /db_xref="HGNC:HGNC:2557"
                     /db_xref="MIM:116896"
ORIGIN      
        1 mlcvagarlk reldatatvl anrqdeseqs rkrlieqsre fkkntpedlr kqvapllksf
       61 qgeidalskr skeaeaafln vykrlidvpd pvpaldlgqq lqlkvqrlhd ietenqklre
      121 tleeynkefa evknqevtik alkekireye qtlknqaeti alekeqklqn dfaekerklq
      181 etqmsttskl eeaehkvqsl qtalektrte lfdlktkyde ettakadeie mimtdleran
      241 qraevaqrea etlreqlssa nhslqlasqi qkapdvaiev ltrsslevel aakereiaql
      301 vedvqrlqas ltklrensas qisqleqqls aknstlkqle eklkgqadye evkkelnilk
      361 smefapsega gtqdaakple vllleknrsl qsenaalris nsdlsgsarr kgkdqpesrr
      421 pgslpappps qlprnpgeqa sntngthqfs paglsqdffs sslaspslpl astgkfalns
      481 llqrqlmqsf yskamqeags tsmifstgpy stnsissqsp lqqspdvngm apspsqsesa
      541 gsvsegeemd taeiarqvke qlikhnigqr ifghyvlgls qgsvseilar pkpwnkltvr
      601 gkepfhkmkq flsdeqnila lrsiqgrqre npgqslnrlf qevpkrrngs egnittrira
      661 setgsdeaik sileqakrel qvqktepaqp ssasgsgnsd dairsilqqa rremeaqqaa
      721 ldpalkqapl sqsditiltp kllstspmpt vssypplais lkkpsaapea gasalpnppa
      781 lkkeaqdapg ldpqgaadca qgvlrqvkne vgrsgawkdh wwsavqperr naasseeaka
      841 eetgggkekg sggsgggsqp raersqlqgp ssseywkewp saespysqss elsltgasrs
      901 etpqnsplps spivpmskpt kpsvppltpe qyevymyqev dtieltrqvk eklakngicq
      961 rifgekvlgl sqgsvsdmls rpkpwskltq kgrepfirmq lwlngelgqg vlpvqgqqqg
     1021 pvlhsvtslq dplqqgcvss estpktsasc spapespmss sesvksltel vqqpcppiea
     1081 skdskppeps dppasdsqpt tplplsghsa lsiqelvams peldtygitk rvkevltdnn
     1141 lgqrlfgeti lgltqgsvsd llarpkpwhk lslkgrepfv rmqlwlndpn nveklmdmkr
     1201 mekkaymkrr hssvsdsqpc eppsvgteys qgaspqpqhq lkkprvvlap eekealkray
     1261 qqkpypspkt iedlatqlnl ktstvinwfh nyrsrirrel fieeiqagsq gqagasdsps
     1321 arsgraapss egdscdgvea tegpgsadte epksqgeaer eevprpaeqt epppsgtpgp
     1381 ddardddheg gpvegpgplp spasatataa paapedaats aaaapgegpa apssapppsn
     1441 sssssaprrp sslqslfglp eaagardsrd nplrkkkaan lnsiihrlek aasreepiew
     1501 ef
//
LOCUS       XP_054184106            1410 aa            linear   PRI 20-MAR-2023
DEFINITION  mediator of RNA polymerase II transcription subunit 14 isoform X6
            [Homo sapiens].
ACCESSION   XP_054184106
VERSION     XP_054184106.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328131.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1410
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1410
                     /product="mediator of RNA polymerase II transcription
                     subunit 14 isoform X6"
                     /calculated_mol_wt=156320
     CDS             1..1410
                     /gene="MED14"
                     /gene_synonym="CRSP150; CRSP2; CSRP; CXorf4; DRIP150;
                     EXLM1; RGR1; TRAP170"
                     /coded_by="XM_054328131.1:131..4363"
                     /db_xref="GeneID:9282"
                     /db_xref="HGNC:HGNC:2370"
                     /db_xref="MIM:300182"
ORIGIN      
        1 mapvqlenhq lvppgggggg sggppsapap pppgaavaaa aaaaaspgyr lstliefllh
       61 rayselmvlt dllprksdve rkieivqfas rtrqlfvrll alvkwannag kvekcamiss
      121 fldqqailfv dtadrlasla rdalvharlp sfaipyaidv lttgsyprlp tcirdkiipp
      181 dpitkiekqa tlhqlnqilr hrlvttdlpp qlanltvang rvkfrvegef eatltvmgdd
      241 pdvpwrllkl eilvedketg dgralvhsmq isfihqlvqs rlfadekplq dmynclhsfc
      301 lslqlevlhs qtlmlirerw gdlvqveryh agkclslsvw nqqvlgrktg tasvhkvtik
      361 idendvskpl qifhdpplpa sdsklveram kidhlsiekl lidsvharah qklqelkail
      421 rgfnanenss ietalpalvv pilepcgnse clhifvdlhs gmfqlmlygl dqatlddmek
      481 svnddmkrii pwiqqlkfwl gqqrckqsik hlptissetl qlsnysthpi gnlsknklfi
      541 kltrlpqyyi vvemlevpnk ptqlsykyyf msvnaadred spamalllqq fkeniqdlvf
      601 rtktgkqtrt nakrklsddp cpveskktkr agemcafnkv lahfvamcdt nmpfvglrle
      661 lsnleiphqg vqvegdgfsh airllkippc kgiteetqka ldrslldctf rlqgrnnrtw
      721 vaelvfancp lngtstreqg psrhvyltye nllsepvggr kvvemflndw nsiarlyecv
      781 lefarslpdi pahlnifsev rvynyrklil cygttkgssi siqwnsihqk fhislgtvgp
      841 nsgcsnchnt ilhqlqemfn ktpnvvqllq vlfdtqapln ainklptvpm lgltqrtnta
      901 yqcfsilpqs sthirlafrn mycidiycrs rgvvairdga yslfdnsklv egfypapglk
      961 tflnmfvdsn qdarrrsvne ddnppspigg dmmdslisql qpppqqqpfp kqpgtsgayp
     1021 ltspptsyhs tvnqspsmmh tqspgtldps spytmvspsg ragnwpgspq vsgpspaarm
     1081 pgmspanpsl hspvpdashs pragtssqtm ptnmppprkl pqrswaasip tilthsalni
     1141 lllpsptpgl vpglagsylc splerflgsv imrrhlqrii qqetlqlins nepgvimfkt
     1201 dalkcrvals pktnqtlqlk vtpenagqwk pdelqvlekf fetrvagppf kantliaftk
     1261 llgapthilr dcvhimklel fpdqatqlkw nvqfcltipp sappiappgt pavvlkskml
     1321 fflqltqkts vppqepvsii vpiiydmasg ttqqadiprq qnssvaapmm vsnilkrfae
     1381 mnpprqgect ifaavrdlma nltlppggrp
//
LOCUS       NP_037393                798 aa            linear   PRI 17-APR-2023
DEFINITION  peroxisome proliferator-activated receptor gamma coactivator
            1-alpha isoform 2 [Homo sapiens].
ACCESSION   NP_037393
VERSION     NP_037393.1
DBSOURCE    REFSEQ: accession NM_013261.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 798)
  AUTHORS   Zhao M, Li Y, Lu C, Ding F, Xu M, Ge X, Li M, Wang Z, Yin J, Zhang
            J, Wang X, Ge Z, Xiao H, Xiao Y, Liu H, Liu W, Cao Y, Wang Q, You
            Y, Wang X, Yang K, Shi Z and Qian X.
  TITLE     PGC1alpha Degradation Suppresses Mitochondrial Biogenesis to Confer
            Radiation Resistance in Glioma
  JOURNAL   Cancer Res 83 (7), 1094-1110 (2023)
   PUBMED   36696363
  REMARK    GeneRIF: PGC1alpha Degradation Suppresses Mitochondrial Biogenesis
            to Confer Radiation Resistance in Glioma.
REFERENCE   2  (residues 1 to 798)
  AUTHORS   Pang X, Cheng J, Wu T and Sun L.
  TITLE     SIRT3 ameliorates polycystic ovary syndrome through
            FOXO1/PGC-1alpha signaling pathway
  JOURNAL   Endocrine 80 (1), 201-211 (2023)
   PUBMED   36598711
  REMARK    GeneRIF: SIRT3 ameliorates polycystic ovary syndrome through
            FOXO1/PGC-1alpha signaling pathway.
REFERENCE   3  (residues 1 to 798)
  AUTHORS   Chen B, Wang Y, Tang W, Chen Y, Liu C, Kang M and Xie J.
  TITLE     Association between PPARgamma, PPARGC1A, and PPARGC1B genetic
            variants and susceptibility of gastric cancer in an Eastern Chinese
            population
  JOURNAL   BMC Med Genomics 15 (1), 274 (2022)
   PUBMED   36587194
  REMARK    GeneRIF: Association between PPARgamma, PPARGC1A, and PPARGC1B
            genetic variants and susceptibility of gastric cancer in an Eastern
            Chinese population.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 798)
  AUTHORS   Nowinska K, Jablonska K, Ciesielska U, Piotrowska A,
            Haczkiewicz-Lesniak K, Pawelczyk K, Podhorska-Okolow M and Dziegiel
            P.
  TITLE     Association of Irisin/FNDC5 with ERRalpha and PGC-1alpha Expression
            in NSCLC
  JOURNAL   Int J Mol Sci 23 (22), 14204 (2022)
   PUBMED   36430689
  REMARK    GeneRIF: Association of Irisin/FNDC5 with ERRalpha and PGC-1alpha
            Expression in NSCLC.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 798)
  AUTHORS   Muntean C, Sasaran MO, Crisan A and Banescu C.
  TITLE     Effects of PPARG and PPARGC1A gene polymorphisms on obesity markers
  JOURNAL   Front Public Health 10, 962852 (2022)
   PUBMED   36466447
  REMARK    GeneRIF: Effects of PPARG and PPARGC1A gene polymorphisms on
            obesity markers.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 798)
  AUTHORS   Esterbauer H, Oberkofler H, Krempler F and Patsch W.
  TITLE     Human peroxisome proliferator activated receptor gamma coactivator
            1 (PPARGC1) gene: cDNA sequence, genomic organization, chromosomal
            localization, and tissue expression
  JOURNAL   Genomics 62 (1), 98-102 (1999)
   PUBMED   10585775
REFERENCE   7  (residues 1 to 798)
  AUTHORS   Puigserver P, Adelmant G, Wu Z, Fan M, Xu J, O'Malley B and
            Spiegelman BM.
  TITLE     Activation of PPARgamma coactivator-1 through transcription factor
            docking
  JOURNAL   Science 286 (5443), 1368-1371 (1999)
   PUBMED   10558993
REFERENCE   8  (residues 1 to 798)
  AUTHORS   Wu Z, Puigserver P, Andersson U, Zhang C, Adelmant G, Mootha V,
            Troy A, Cinti S, Lowell B, Scarpulla RC and Spiegelman BM.
  TITLE     Mechanisms controlling mitochondrial biogenesis and respiration
            through the thermogenic coactivator PGC-1
  JOURNAL   Cell 98 (1), 115-124 (1999)
   PUBMED   10412986
REFERENCE   9  (residues 1 to 798)
  AUTHORS   Puigserver P, Wu Z, Park CW, Graves R, Wright M and Spiegelman BM.
  TITLE     A cold-inducible coactivator of nuclear receptors linked to
            adaptive thermogenesis
  JOURNAL   Cell 92 (6), 829-839 (1998)
   PUBMED   9529258
REFERENCE   10 (residues 1 to 798)
  AUTHORS   Spanos,N.P., Spillane,J. and McPeake,J.D.
  TITLE     Cognitive strategies and response to suggestion in hypnotic and
            task-motivated subjects
  JOURNAL   Am J Clin Hypn 18 (4), 254-262 (1976)
   PUBMED   1258810
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF106698.1, AC092834.3,
            AF186379.1 and BM976883.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a transcriptional
            coactivator that regulates the genes involved in energy metabolism.
            This protein interacts with PPARgamma, which permits the
            interaction of this protein with multiple transcription factors.
            This protein can interact with, and regulate the activities of,
            cAMP response element binding protein (CREB) and nuclear
            respiratory factors (NRFs). It provides a direct link between
            external physiological stimuli and the regulation of mitochondrial
            biogenesis, and is a major factor that regulates muscle fiber type
            determination. This protein may be also involved in controlling
            blood pressure, regulating cellular cholesterol homoeostasis, and
            the development of obesity. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at an
            alternate start codon, compared to variant 1. The encoded isoform
            (2) has a distinct N-terminus and is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF106698.1, SRR11853560.21849.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264867.7/ ENSP00000264867.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..798
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p15.2"
     Protein         1..798
                     /product="peroxisome proliferator-activated receptor gamma
                     coactivator 1-alpha isoform 2"
                     /note="ligand effect modulator-6; L-PGC-1alpha; PPAR gamma
                     coactivator variant form; PGC-1-alpha; PPARGC-1-alpha;
                     PPARAGCIalpha; PPARgamma coactivator 1alpha"
                     /calculated_mol_wt=90896
     Site            79
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O70343; propagated from
                     UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Region          100..140
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Region          144..148
                     /region_name="LXXLL motif.
                     /evidence=ECO:0000250|UniProtKB:O70343"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Site            146
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O70343; propagated from
                     UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Site            178
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by AMPK.
                     /evidence=ECO:0000250|UniProtKB:O70343; propagated from
                     UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Site            184
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O70343; propagated from
                     UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Region          213..277
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Site            254
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O70343; propagated from
                     UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Site            271
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O70343; propagated from
                     UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Site            278
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O70343; propagated from
                     UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Region          290..351
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Region          293..339
                     /region_name="Interaction with PPARG.
                     /evidence=ECO:0000269|PubMed:10713165"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Site            321
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O70343; propagated from
                     UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Site            347
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O70343; propagated from
                     UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Region          350..798
                     /region_name="Mediates interaction with RNF34.
                     /evidence=ECO:0000269|PubMed:22064484"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Site            413
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O70343; propagated from
                     UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Site            442
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O70343; propagated from
                     UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Site            451
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O70343; propagated from
                     UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Site            539
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by AMPK.
                     /evidence=ECO:0000250|UniProtKB:O70343; propagated from
                     UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Region          542..599
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Region          613..639
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Region          636..671
                     /region_name="Complexin_NTD"
                     /note="N-terminal SNARE complex binding domain of the
                     complexin family of SNARE regulators; cl45908"
                     /db_xref="CDD:459253"
     Region          650..669
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Region          675..765
                     /region_name="RRM_PPARGC1A"
                     /note="RNA recognition motif (RRM) found in peroxisome
                     proliferator-activated receptor gamma coactivator 1-alpha
                     (PGC-1alpha, or PPARGC-1-alpha) and similar proteins;
                     cd12623"
                     /db_xref="CDD:410034"
     Site            758
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O70343; propagated from
                     UniProtKB/Swiss-Prot (Q9UBK2.1)"
     Site            779
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O70343; propagated from
                     UniProtKB/Swiss-Prot (Q9UBK2.1)"
     CDS             1..798
                     /gene="PPARGC1A"
                     /gene_synonym="LEM6; PGC-1(alpha); PGC-1alpha; PGC-1v;
                     PGC1; PGC1A; PPARGC1"
                     /coded_by="NM_013261.5:91..2487"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS3429.1"
                     /db_xref="GeneID:10891"
                     /db_xref="HGNC:HGNC:9237"
                     /db_xref="MIM:604517"
ORIGIN      
        1 mawdmcnqds esvwsdieca alvgedqplc pdlpeldlse ldvndldtds flgglkwcsd
       61 qseiisnqyn nepsnifeki deeneanlla vltetldslp vdedglpsfd altdgdvttd
      121 neaspssmpd gtpppqeaee psllkkllla pantqlsyne csglstqnha nhnhrirtnp
      181 aivktensws nkaksicqqq kpqrrpcsel lkylttnddp phtkptenrn ssrdkctskk
      241 kshtqsqsqh lqakpttlsl pltpespndp kgspfenkti ertlsvelsg tagltppttp
      301 phkanqdnpf raspklkssc ktvvpppskk prysessgtq gnnstkkgpe qselyaqlsk
      361 ssvltgghee rktkrpslrl fgdhdycqsi nskteilini sqelqdsrql enkdvssdwq
      421 gqicsstdsd qcylretlea skqvspcstr kqlqdqeira elnkhfghps qavfddeadk
      481 tgelrdsdfs neqfsklpmf insglamdgl fddsedesdk lsypwdgtqs yslfnvspsc
      541 ssfnspcrds vsppkslfsq rpqrmrsrsr sfsrhrscsr spysrsrsrs pgsrsssrsc
      601 yyyesshyrh rthrnsplyv rsrsrspysr rprydsyeey qherlkreey rreyekrese
      661 rakqrerqrq kaieerrviy vgkirpdttr telrdrfevf geieectvnl rddgdsygfi
      721 tyrytcdafa alengytlrr snetdfelyf cgrkqffksn yadldsnsdd fdpastksky
      781 dsldfdsllk eaqrslrr
//
LOCUS       NP_054769                142 aa            linear   PRI 18-DEC-2022
DEFINITION  39S ribosomal protein L42, mitochondrial precursor [Homo sapiens].
ACCESSION   NP_054769
VERSION     NP_054769.1
DBSOURCE    REFSEQ: accession NM_014050.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 142)
  AUTHORS   Hao C, Duan H, Li H, Wang H, Liu Y, Fan Y and Zhang C.
  TITLE     Knockdown of MRPL42 suppresses glioma cell proliferation by
            inducing cell cycle arrest and apoptosis
  JOURNAL   Biosci Rep 38 (2) (2018)
   PUBMED   29531015
  REMARK    GeneRIF: MRPL42 is a novel oncogene in glioma and might help us
            develop promising targetted therapies for glioma patients.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 142)
  AUTHORS   Brown A, Rathore S, Kimanius D, Aibara S, Bai XC, Rorbach J, Amunts
            A and Ramakrishnan V.
  TITLE     Structures of the human mitochondrial ribosome in native states of
            assembly
  JOURNAL   Nat Struct Mol Biol 24 (10), 866-869 (2017)
   PUBMED   28892042
REFERENCE   3  (residues 1 to 142)
  AUTHORS   Greber BJ and Ban N.
  TITLE     Structure and Function of the Mitochondrial Ribosome
  JOURNAL   Annu Rev Biochem 85, 103-132 (2016)
   PUBMED   27023846
  REMARK    Review article
REFERENCE   4  (residues 1 to 142)
  AUTHORS   Wang X, Wang J, Xing CY, Zang R, Pu YY and Yin ZX.
  TITLE     [Comparative analysis of the role of CD4(+) and CD8(+) T cells in
            severe asthma development]
  JOURNAL   Mol Biol (Mosk) 49 (3), 482-490 (2015)
   PUBMED   26107902
  REMARK    GeneRIF: MPO and BPI in CD4(+)T-lymphocytes, and PDHA1 and MRPL42
            in CD8(+) T-lymphocytes might be used as specific biomarkers of
            severe asthma progression.
REFERENCE   5  (residues 1 to 142)
  AUTHORS   Brown A, Amunts A, Bai XC, Sugimoto Y, Edwards PC, Murshudov G,
            Scheres SHW and Ramakrishnan V.
  TITLE     Structure of the large ribosomal subunit from human mitochondria
  JOURNAL   Science 346 (6210), 718-722 (2014)
   PUBMED   25278503
REFERENCE   6  (residues 1 to 142)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 142)
  AUTHORS   Zhang Z and Gerstein M.
  TITLE     Identification and characterization of over 100 mitochondrial
            ribosomal protein pseudogenes in the human genome
  JOURNAL   Genomics 81 (5), 468-480 (2003)
   PUBMED   12706105
REFERENCE   8  (residues 1 to 142)
  AUTHORS   Koc EC, Burkhart W, Blackburn K, Moyer MB, Schlatzer DM, Moseley A
            and Spremulli LL.
  TITLE     The large subunit of the mammalian mitochondrial ribosome. Analysis
            of the complement of ribosomal proteins present
  JOURNAL   J Biol Chem 276 (47), 43958-43969 (2001)
   PUBMED   11551941
REFERENCE   9  (residues 1 to 142)
  AUTHORS   Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S,
            Watanabe K and Tanaka T.
  TITLE     The human mitochondrial ribosomal protein genes: mapping of 54
            genes to the chromosomes and implications for human disorders
  JOURNAL   Genomics 77 (1-2), 65-70 (2001)
   PUBMED   11543634
REFERENCE   10 (residues 1 to 142)
  AUTHORS   Cavdar Koc E, Burkhart W, Blackburn K, Moseley A and Spremulli LL.
  TITLE     The small subunit of the mammalian mitochondrial ribosome.
            Identification of the full complement of ribosomal proteins present
  JOURNAL   J Biol Chem 276 (22), 19363-19374 (2001)
   PUBMED   11279123
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025260.29.
            
            Summary: Mammalian mitochondrial ribosomal proteins are encoded by
            nuclear genes and help in protein synthesis within the
            mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a
            small 28S subunit and a large 39S subunit. They have an estimated
            75% protein to rRNA composition compared to prokaryotic ribosomes,
            where this ratio is reversed. Another difference between mammalian
            mitoribosomes and prokaryotic ribosomes is that the latter contain
            a 5S rRNA. Among different species, the proteins comprising the
            mitoribosome differ greatly in sequence, and sometimes in
            biochemical properties, which prevents easy recognition by sequence
            homology. This gene encodes a protein identified as belonging to
            both the 28S and the 39S subunits. Alternative splicing results in
            multiple transcript variants. Pseudogenes corresponding to this
            gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by
            RefSeq, May 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.48438.1,
                                           SRR1803615.266571.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000549982.6/
                                                  ENSP00000449884.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..142
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q22"
     Protein         1..142
                     /product="39S ribosomal protein L42, mitochondrial
                     precursor"
                     /note="39S ribosomal protein L42, mitochondrial; 28S
                     ribosomal protein S32, mitochondrial; 39S ribosomal
                     protein L31, mitochondrial; mitochondrial large ribosomal
                     subunit protein mL42"
                     /calculated_mol_wt=13064
     transit_peptide 1..32
                     /note="Mitochondrion.
                     /evidence=ECO:0000250|UniProtKB:P0C2B9; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6G3.1)"
                     /calculated_mol_wt=3615
     mat_peptide     33..142
                     /product="39S ribosomal protein L42, mitochondrial.
                     /id=PRO_0000087724"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6G3.1)"
                     /calculated_mol_wt=13064
     Region          47..142
                     /region_name="MRP-S32"
                     /note="Mitochondrial 28S ribosomal protein S32; pfam10210"
                     /db_xref="CDD:431137"
     CDS             1..142
                     /gene="MRPL42"
                     /gene_synonym="HSPC204; L31MT; L42MT; MRP-L31; MRP-L42;
                     MRP-S32; MRPL31; MRPS32; PTD007; RPML31; S32MT"
                     /coded_by="NM_014050.4:136..564"
                     /db_xref="CCDS:CCDS9045.1"
                     /db_xref="GeneID:28977"
                     /db_xref="HGNC:HGNC:14493"
                     /db_xref="MIM:611847"
ORIGIN      
        1 mavaavkwvm skrtilkhlf pvqngalycv chkstysplp ddyncnvela ltsdgrtivc
       61 yhpsvdipye htkpiprpdp vhnneethdq vlktrleekv ehleegpmie qlskmffttk
      121 hrwyphgryh rcrknlnppk dr
//
LOCUS       NP_001230132              68 aa            linear   PRI 18-DEC-2022
DEFINITION  ran-binding protein 6 isoform 3 [Homo sapiens].
ACCESSION   NP_001230132
VERSION     NP_001230132.1
DBSOURCE    REFSEQ: accession NM_001243203.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 68)
  AUTHORS   Oldrini B, Hsieh WY, Erdjument-Bromage H, Codega P, Carro MS,
            Curiel-Garcia A, Campos C, Pourmaleki M, Grommes C, Vivanco I,
            Rohle D, Bielski CM, Taylor BS, Hollmann TJ, Rosenblum M, Tempst P,
            Blenis J, Squatrito M and Mellinghoff IK.
  TITLE     EGFR feedback-inhibition by Ran-binding protein 6 is disrupted in
            cancer
  JOURNAL   Nat Commun 8 (1), 2035 (2017)
   PUBMED   29229958
  REMARK    GeneRIF: Data indicate a mechanism of epidermal growth factor
            receptor (EGFR) regulation through the importin beta family member
            RAN-binding protein 6 (RanBP6).
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 68)
  AUTHORS   Ferreira MA, Matheson MC, Tang CS, Granell R, Ang W, Hui J, Kiefer
            AK, Duffy DL, Baltic S, Danoy P, Bui M, Price L, Sly PD, Eriksson
            N, Madden PA, Abramson MJ, Holt PG, Heath AC, Hunter M, Musk B,
            Robertson CF, Le Souef P, Montgomery GW, Henderson AJ, Tung JY,
            Dharmage SC, Brown MA, James A, Thompson PJ, Pennell C, Martin NG,
            Evans DM, Hinds DA and Hopper JL.
  CONSRTM   Australian Asthma Genetics Consortium Collaborators
  TITLE     Genome-wide association analysis identifies 11 risk variants
            associated with the asthma with hay fever phenotype
  JOURNAL   J Allergy Clin Immunol 133 (6), 1564-1571 (2014)
   PUBMED   24388013
REFERENCE   3  (residues 1 to 68)
  AUTHORS   Hinds DA, McMahon G, Kiefer AK, Do CB, Eriksson N, Evans DM, St
            Pourcain B, Ring SM, Mountain JL, Francke U, Davey-Smith G, Timpson
            NJ and Tung JY.
  TITLE     A genome-wide association meta-analysis of self-reported allergy
            identifies shared and allergy-specific susceptibility loci
  JOURNAL   Nat Genet 45 (8), 907-911 (2013)
   PUBMED   23817569
REFERENCE   4  (residues 1 to 68)
  AUTHORS   Jager S, Cimermancic P, Gulbahce N, Johnson JR, McGovern KE, Clarke
            SC, Shales M, Mercenne G, Pache L, Li K, Hernandez H, Jang GM, Roth
            SL, Akiva E, Marlett J, Stephens M, D'Orso I, Fernandes J, Fahey M,
            Mahon C, O'Donoghue AJ, Todorovic A, Morris JH, Maltby DA, Alber T,
            Cagney G, Bushman FD, Young JA, Chanda SK, Sundquist WI, Kortemme
            T, Hernandez RD, Craik CS, Burlingame A, Sali A, Frankel AD and
            Krogan NJ.
  TITLE     Global landscape of HIV-human protein complexes
  JOURNAL   Nature 481 (7381), 365-370 (2011)
   PUBMED   22190034
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 68)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC334669.1, AK300408.1, BC012805.2 and AI568841.1.
            
            Transcript Variant: This variant (3) uses an alternate splice site
            in the coding region, which results in a frameshift, compared to
            variant 1. The encoded isoform (3) is shorter and has a distinct
            C-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.206290.1,
                                           SRR1803613.109682.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..68
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.1"
     Protein         1..68
                     /product="ran-binding protein 6 isoform 3"
                     /note="Ran-GTP binding protein; ran-binding protein 6"
                     /calculated_mol_wt=7432
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (O60518.2)"
     CDS             1..68
                     /gene="RANBP6"
                     /coded_by="NM_001243203.2:18..224"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS78378.1"
                     /db_xref="GeneID:26953"
                     /db_xref="HGNC:HGNC:9851"
ORIGIN      
        1 maatasagvp atvsekqefy qllknlinps cmvrrqaeei yenipgsssk gegcslyytw
       61 tdgyrfct
//
LOCUS       NP_056284                247 aa            linear   PRI 24-DEC-2022
DEFINITION  protein NipSnap homolog 3A isoform 1 [Homo sapiens].
ACCESSION   NP_056284
VERSION     NP_056284.1
DBSOURCE    REFSEQ: accession NM_015469.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 247)
  AUTHORS   Buechler C, Bodzioch M, Bared SM, Sigruener A, Boettcher A,
            Lapicka-Bodzioch K, Aslanidis C, Duong CQ, Grandl M, Langmann T,
            Dembinska-Kiec A and Schmitz G.
  TITLE     Expression pattern and raft association of NIPSNAP3 and NIPSNAP4,
            highly homologous proteins encoded by genes in close proximity to
            the ATP-binding cassette transporter A1
  JOURNAL   Genomics 83 (6), 1116-1124 (2004)
   PUBMED   15177564
REFERENCE   2  (residues 1 to 247)
  AUTHORS   Lee AH, Zareei MP and Daefler S.
  TITLE     Identification of a NIPSNAP homologue as host cell target for
            Salmonella virulence protein SpiC
  JOURNAL   Cell Microbiol 4 (11), 739-750 (2002)
   PUBMED   12427096
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY046409.1 and BC005935.1.
            
            Summary: NIPSNAP3A belongs to a family of proteins with putative
            roles in vesicular transport (Buechler et al., 2004 [PubMed
            15177564]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.934110.1,
                                           SRR3476690.542599.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374767.5/ ENSP00000363899.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..247
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     Protein         1..247
                     /product="protein NipSnap homolog 3A isoform 1"
                     /note="protein NipSnap homolog 3A; protein NipSnap homolog
                     4; target for Salmonella secreted protein C"
                     /calculated_mol_wt=28336
     Region          37..136
                     /region_name="NIPSNAP"
                     /note="pfam07978"
                     /db_xref="CDD:429767"
     Site            48
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9UFN0.2)"
     Region          146..245
                     /region_name="NIPSNAP"
                     /note="pfam07978"
                     /db_xref="CDD:429767"
     Site            166
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9UFN0.2)"
     CDS             1..247
                     /gene="NIPSNAP3A"
                     /gene_synonym="HSPC299; NIPSNAP4; TASSC"
                     /coded_by="NM_015469.3:111..854"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS6760.1"
                     /db_xref="GeneID:25934"
                     /db_xref="HGNC:HGNC:23619"
                     /db_xref="MIM:608871"
ORIGIN      
        1 mlvlrsaltr alasrtlapq mcssfatgpr qydgifyefr syylkpskmn eflenfekna
       61 hlrtahselv gywsvefggr mntvfhiwky dnfahrtevr kalakdkewq eqflipnlal
      121 idkqeseity lvpwcklekp pkegvyelat fqmkpggpal wgdafkravh ahvnlgytkl
      181 vgvfhteyga lnrvhvlwwn esadsraagr hkshedprvv aavresvnyl vsqqnmllip
      241 tsfsplk
//
LOCUS       NP_001258085             198 aa            linear   PRI 24-DEC-2022
DEFINITION  zinc finger protein 41 homolog [Homo sapiens].
ACCESSION   NP_001258085 XP_005250949
VERSION     NP_001258085.3
DBSOURCE    REFSEQ: accession NM_001271156.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 198)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 198)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   3  (residues 1 to 198)
  AUTHORS   Noce T, Fujiwara Y, Sezaki M, Fujimoto H and Higashinakagawa T.
  TITLE     Expression of a mouse zinc finger protein gene in both
            spermatocytes and oocytes during meiosis
  JOURNAL   Dev Biol 153 (2), 356-367 (1992)
   PUBMED   1397691
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC138696.4, BC034608.1 and DA216172.1.
            On Jul 14, 2018 this sequence version replaced NP_001258085.2.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC034608.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            NMD candidate                    :: translation inferred from
                                                conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..198
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     Protein         1..198
                     /product="zinc finger protein 41 homolog"
                     /calculated_mol_wt=22675
     Region          1..55
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8Y5.1)"
     Region          <8..>72
                     /region_name="PTZ00449"
                     /note="104 kDa microneme/rhoptry antigen; Provisional"
                     /db_xref="CDD:185628"
     Region          <85..198
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          89..109
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          117..137
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(122,124,126,128..129,132..133,136,150,152,156..157,
                     160..161,164,178,180,182,184..185,188..189,192)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          145..165
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          157..182
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          173..193
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..198
                     /gene="ZFP41"
                     /gene_synonym="zfp-41; ZNF753"
                     /coded_by="NM_001271156.3:966..1562"
                     /db_xref="CCDS:CCDS6397.3"
                     /db_xref="GeneID:286128"
                     /db_xref="HGNC:HGNC:26786"
ORIGIN      
        1 mekpagrkkk tptpreeadv qksalreekv sgdrkpperp tvprkprtep clspedeehv
       61 fdafdasfkd dfegvpvfip fqrkkpyecs ecgrifkhkt dhirhqrvht gekpfkcaqc
      121 gkafrhssdv tkhqrthtge kpfkcgecgk afncgsnllk hqkthtgekp yecthcgkaf
      181 ayssclirhq krhprkkp
//
LOCUS       NP_671512                413 aa            linear   PRI 24-DEC-2022
DEFINITION  phosphatidylcholine:ceramide cholinephosphotransferase 1 [Homo
            sapiens].
ACCESSION   NP_671512
VERSION     NP_671512.1
DBSOURCE    REFSEQ: accession NM_147156.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 413)
  AUTHORS   Lu H, Zhou L, Zuo H, Le W, Hu J, Zhang T, Li M and Yuan Y.
  TITLE     Overriding sorafenib resistance via blocking lipid metabolism and
            Ras by sphingomyelin synthase 1 inhibition in hepatocellular
            carcinoma
  JOURNAL   Cancer Chemother Pharmacol 87 (2), 217-228 (2021)
   PUBMED   33226447
  REMARK    GeneRIF: Overriding sorafenib resistance via blocking lipid
            metabolism and Ras by sphingomyelin synthase 1 inhibition in
            hepatocellular carcinoma.
REFERENCE   2  (residues 1 to 413)
  AUTHORS   Niekamp P, Guzman G, Leier HC, Rashidfarrokhi A, Richina V, Pott F,
            Barisch C, Holthuis JCM and Tafesse FG.
  TITLE     Sphingomyelin Biosynthesis Is Essential for Phagocytic Signaling
            during Mycobacterium tuberculosis Host Cell Entry
  JOURNAL   mBio 12 (1), e03141-20 (2021)
   PUBMED   33500344
  REMARK    GeneRIF: Sphingomyelin Biosynthesis Is Essential for Phagocytic
            Signaling during Mycobacterium tuberculosis Host Cell Entry.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 413)
  AUTHORS   Daian F, Esper BS, Ashrafi N, Yu GQ, Luciano G, Moorthi S and
            Luberto C.
  TITLE     Regulation of human sphingomyelin synthase 1 translation through
            its 5'-untranslated region
  JOURNAL   FEBS Lett 594 (22), 3751-3764 (2020)
   PUBMED   33037626
  REMARK    GeneRIF: Regulation of human sphingomyelin synthase 1 translation
            through its 5'-untranslated region.
REFERENCE   4  (residues 1 to 413)
  AUTHORS   Murakami C, Hoshino F, Sakai H, Hayashi Y, Yamashita A and Sakane
            F.
  TITLE     Diacylglycerol kinase delta and sphingomyelin synthase-related
            protein functionally interact via their sterile alpha motif domains
  JOURNAL   J Biol Chem 295 (10), 2932-2947 (2020)
   PUBMED   31980461
  REMARK    GeneRIF: Diacylglycerol kinase delta and sphingomyelin
            synthase-related protein functionally interact via their sterile
            alpha motif domains.
REFERENCE   5  (residues 1 to 413)
  AUTHORS   Tachida Y, Kumagai K, Sakai S, Ando S, Yamaji T and Hanada K.
  TITLE     Chlamydia trachomatis-infected human cells convert ceramide to
            sphingomyelin without sphingomyelin synthases 1 and 2
  JOURNAL   FEBS Lett 594 (3), 519-529 (2020)
   PUBMED   31596951
  REMARK    GeneRIF: Chlamydia trachomatis-infected human cells convert
            ceramide to sphingomyelin without sphingomyelin synthases 1 and 2.
REFERENCE   6  (residues 1 to 413)
  AUTHORS   Vladychenskaya IP, Dergunova LV, Dmitrieva VG and Limborska SA.
  TITLE     Human gene MOB: structure specification and aspects of
            transcriptional activity
  JOURNAL   Gene 338 (2), 257-265 (2004)
   PUBMED   15315829
  REMARK    GeneRIF: MOB gene activity is believed to be controlled at least at
            the transcriptional and the posttranscriptional levels, strictly
            regulating the amount of the encoded protein product.
REFERENCE   7  (residues 1 to 413)
  AUTHORS   Yamaoka S, Miyaji M, Kitano T, Umehara H and Okazaki T.
  TITLE     Expression cloning of a human cDNA restoring sphingomyelin
            synthesis and cell growth in sphingomyelin synthase-defective
            lymphoid cells
  JOURNAL   J Biol Chem 279 (18), 18688-18693 (2004)
   PUBMED   14976195
  REMARK    GeneRIF: SMS1 is responsible for SM synthase activity in mammalian
            cells and plays a critical role in cell growth of lymphoid cells.
REFERENCE   8  (residues 1 to 413)
  AUTHORS   Huitema K, van den Dikkenberg J, Brouwers JF and Holthuis JC.
  TITLE     Identification of a family of animal sphingomyelin synthases
  JOURNAL   EMBO J 23 (1), 33-44 (2004)
   PUBMED   14685263
REFERENCE   9  (residues 1 to 413)
  AUTHORS   Vladychenskaya IP, Dergunova LV and Limborska SA.
  TITLE     In vitro and in silico analysis of the predicted human MOB gene
            encoding a phylogenetically conserved transmembrane protein
  JOURNAL   Biomol Eng 18 (6), 263-268 (2002)
   PUBMED   11841947
  REMARK    GeneRIF: The 1.6 kb Hmob33 clone obtained from the medulla
            oblongata cDNA library and mapped to the human chromosome 10 was
            examined to find the coding region(MOB)
REFERENCE   10 (residues 1 to 413)
  AUTHORS   Albi E and Magni MV.
  TITLE     Sphingomyelin synthase in rat liver nuclear membrane and chromatin
  JOURNAL   FEBS Lett 460 (2), 369-372 (1999)
   PUBMED   10544266
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM764008.1, AY332650.1,
            BC042899.1 and BM141853.1.
            
            Summary: The protein encoded by this gene is predicted to be a
            five-pass transmembrane protein. This gene may be predominately
            expressed in brain. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.122998.1, BN000143.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361781.7/ ENSP00000354829.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..413
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.23"
     Protein         1..413
                     /product="phosphatidylcholine:ceramide
                     cholinephosphotransferase 1"
                     /EC_number="2.7.8.27"
                     /note="transmembrane protein 23; medulla oblongata-derived
                     protein; protein Mob"
                     /calculated_mol_wt=48486
     Region          1..72
                     /region_name="SAM_SGMS1"
                     /note="SAM domain of sphingomyelin synthase; cd09514"
                     /db_xref="CDD:188913"
     Site            8
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86VZ5.3)"
     Site            136..156
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VZ5.3)"
     Site            184..204
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VZ5.3)"
     Site            215..235
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VZ5.3)"
     Region          276..349
                     /region_name="PAP2_C"
                     /note="PAP2 superfamily C-terminal; pfam14360"
                     /db_xref="CDD:433902"
     Site            276..296
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VZ5.3)"
     Site            304..324
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VZ5.3)"
     CDS             1..413
                     /gene="SGMS1"
                     /gene_synonym="hmob33; MOB; MOB1; SMS1; TMEM23"
                     /coded_by="NM_147156.4:934..2175"
                     /db_xref="CCDS:CCDS7240.1"
                     /db_xref="GeneID:259230"
                     /db_xref="HGNC:HGNC:29799"
                     /db_xref="MIM:611573"
ORIGIN      
        1 mkevvywspk kvadwllena mpeycepleh ftgqdlinlt qedfkkpplc rvssdngqrl
       61 ldmietlkme hhleahkngh anghlnigvd iptpdgsfsi kikpngmpng yrkemikipm
      121 pelersqypm ewgktflafl yalscfvltt vmisvvherv ppkevqpplp dtffdhfnrv
      181 qwafsicein gmilvglwli qwlllkyksi isrrffcivg tlylyrcitm yvttlpvpgm
      241 hfncspklfg dweaqlrrim kliaggglsi tgshnmcgdy lysghtvmlt ltylfikeys
      301 prrlwwyhwi cwllsvvgif cillahdhyt vdvvvayyit trlfwwyhtm anqqvlkeas
      361 qmnllarvww yrpfqyfekn vqgivprsyh wpfpwpvvhl srqvkysrlv ndt
//
LOCUS       NP_079507                348 aa            linear   PRI 25-DEC-2022
DEFINITION  zinc finger and SCAN domain-containing protein 16 isoform a [Homo
            sapiens].
ACCESSION   NP_079507
VERSION     NP_079507.1
DBSOURCE    REFSEQ: accession NM_025231.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 348)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 348)
  AUTHORS   Li X, Shang D, Shen H, Song J, Hao G and Tian Y.
  TITLE     ZSCAN16 promotes proliferation, migration and invasion of bladder
            cancer via regulating NF-kB, AKT, mTOR, P38 and other genes
  JOURNAL   Biomed Pharmacother 126, 110066 (2020)
   PUBMED   32172065
  REMARK    GeneRIF: ZSCAN16 promotes proliferation, migration and invasion of
            bladder cancer via regulating NF-kB, AKT, mTOR, P38 and other
            genes.
            Erratum:[Biomed Pharmacother. 2020 Oct;130:110858. PMID: 33054976]
REFERENCE   3  (residues 1 to 348)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 348)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   5  (residues 1 to 348)
  AUTHORS   Gu X, Zheng M, Fei X, Yang Z, Li F, Ji C, Xie Y and Mao Y.
  TITLE     ZNF435, a novel human SCAN-containing zinc finger protein, inhibits
            AP-1-mediated transcriptional activation
  JOURNAL   Mol Cells 23 (3), 316-322 (2007)
   PUBMED   17646705
  REMARK    GeneRIF: ZNF435 proved to be a transcription repressor as its
            overexpression in AD293 cells inhibited the transcriptional
            activities of AP-1.
REFERENCE   6  (residues 1 to 348)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK025844.1 and CA306342.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Variants 1 and 2 both encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK025844.1, SRR1163655.384671.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000340487.5/ ENSP00000366527.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..348
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     Protein         1..348
                     /product="zinc finger and SCAN domain-containing protein
                     16 isoform a"
                     /note="zinc finger protein 392; zinc finger protein 435;
                     zinc finger and SCAN domain-containing protein 16"
                     /calculated_mol_wt=40661
     Region          37..148
                     /region_name="SCAN"
                     /note="leucine rich region; smart00431"
                     /db_xref="CDD:128708"
     Region          160..184
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H4T2.2)"
     Region          <183..323
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          205..226
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H4T2.2)"
     Region          238..258
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(243,245,247,249..250,253..254,257,271,273,277..278,
                     281..282,285,299,301,303,305..306,309..310,313)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          266..286
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          294..314
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          320..342
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          322..342
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..348
                     /gene="ZSCAN16"
                     /gene_synonym="dJ265C24.3; ZNF392; ZNF435"
                     /coded_by="NM_025231.3:101..1147"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS4644.1"
                     /db_xref="GeneID:80345"
                     /db_xref="HGNC:HGNC:20813"
                     /db_xref="MIM:618544"
ORIGIN      
        1 mttalepedq kglliikaed hywgqdsssq kcsphrrely rqhfrklcyq dapgprealt
       61 qlwelcrqwl rpechtkeqi ldllvleqfl silpkdlqaw vrahhpetge eavtvledle
      121 reldepgkqv pgnserrdil mdklaplgrp yesltvqlhp kktqleqeag kpqrngdktr
      181 tkneelfqke dmpkdkeflg eindrlnkdt pqhpkskdii enegrsewqq rerrrykcde
      241 cgksfshssd lskhrrthtg ekpykcdecg kafiqrshli ghhrvhtgvk pykckecgkd
      301 fsgrtgliqh qrihtgekpy ecdecgrpfr vssalirhqr ihtankly
//
LOCUS       NP_061861                390 aa            linear   PRI 25-DEC-2022
DEFINITION  glucose-fructose oxidoreductase domain-containing protein 1 isoform
            1 precursor [Homo sapiens].
ACCESSION   NP_061861
VERSION     NP_061861.1
DBSOURCE    REFSEQ: accession NM_018988.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 390)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 390)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 390)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 390)
  AUTHORS   Liu Z, Ma C, Gu J and Yu M.
  TITLE     Potential biomarkers of acute myocardial infarction based on
            weighted gene co-expression network analysis
  JOURNAL   Biomed Eng Online 18 (1), 9 (2019)
   PUBMED   30683112
  REMARK    GeneRIF: three overlapping genes (FGFBP2, GFOD1 and MLC1) between
            two modules could potentially have a role in acute myocardial
            infarction and have diagnostic potential
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 390)
  AUTHORS   Wu XR, Chen YH, Chen W, Kong W, Huang JW, Zhang J, Xue W, Liu DM
            and Huang YR.
  TITLE     GFOD1 and peejar are promising markers for clear-cell renal cell
            carcinoma disease progression
  JOURNAL   Oncotarget 7 (25), 38004-38009 (2016)
   PUBMED   27191742
  REMARK    GeneRIF: Authors found the expression of peejar was positively
            correlated with the expression of GFOD1 in ccRCC tissue, with
            Pearson correlation coefficiency reaching 0.939 (p < 0.001). GFOD1
            and peejar were novel genes correlated with ccRCC disease
            progression and patients' poor prognosis.
REFERENCE   6  (residues 1 to 390)
  AUTHORS   Lasky-Su J, Neale BM, Franke B, Anney RJ, Zhou K, Maller JB,
            Vasquez AA, Chen W, Asherson P, Buitelaar J, Banaschewski T,
            Ebstein R, Gill M, Miranda A, Mulas F, Oades RD, Roeyers H,
            Rothenberger A, Sergeant J, Sonuga-Barke E, Steinhausen HC, Taylor
            E, Daly M, Laird N, Lange C and Faraone SV.
  TITLE     Genome-wide association scan of quantitative traits for attention
            deficit hyperactivity disorder identifies novel associations and
            confirms candidate gene associations
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 147B (8), 1345-1354 (2008)
   PUBMED   18821565
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL583828.4 and AL589984.7.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.865191.1,
                                           SRR3476690.852885.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379287.4/ ENSP00000368589.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..390
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.1-p23"
     Protein         1..390
                     /product="glucose-fructose oxidoreductase
                     domain-containing protein 1 isoform 1 precursor"
                     /note="glucose-fructose oxidoreductase domain-containing
                     protein 1"
                     /calculated_mol_wt=41022
     sig_peptide     1..21
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NXC2.1)"
                     /calculated_mol_wt=2155
     Region          5..363
                     /region_name="MviM"
                     /note="Predicted dehydrogenase [General function
                     prediction only]; COG0673"
                     /db_xref="CDD:223745"
     mat_peptide     22..390
                     /product="Glucose-fructose oxidoreductase
                     domain-containing protein 1. /id=PRO_0000282968"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXC2.1)"
                     /calculated_mol_wt=41022
     CDS             1..390
                     /gene="GFOD1"
                     /gene_synonym="ADG-90; C6orf114"
                     /coded_by="NM_018988.4:711..1883"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS4524.1"
                     /db_xref="GeneID:54438"
                     /db_xref="HGNC:HGNC:21096"
                     /db_xref="MIM:619932"
ORIGIN      
        1 mlpgvgvfgt sltarviipl lkdegfavka lwgrtqeeae elakemsvpf ytsridevll
       61 hqdvdlvcin lpppltrqia vktlgigknv icdrtatpld afrmtsaahy ypklmsimgn
      121 vlrflpafvr mkqlieegyv geplvcevqv hggsllgkky nwscddlmgg gglhsvgtyi
      181 idlltfltgq kavkvhgllk tfvkqtdhik girqitsddf ctfqmvlegg vcctvtlnfn
      241 vpgefkqdvt vvgsagrlla vgtdlygqrn sapeqellvq datpvsnsll pekafsdips
      301 pylrgtikmm qavrqafqdq ddrrtwdgrp ltmaatfddc lyalcvvdti krssqtgewq
      361 niaimteepe lspaylisea mrrsrmslyc
//
LOCUS       NP_001336054            1210 aa            linear   PRI 26-DEC-2022
DEFINITION  NK-tumor recognition protein isoform d [Homo sapiens].
ACCESSION   NP_001336054 XP_011532052
VERSION     NP_001336054.1
DBSOURCE    REFSEQ: accession NM_001349125.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1210)
  AUTHORS   Davis TL, Walker JR, Campagna-Slater V, Finerty PJ, Paramanathan R,
            Bernstein G, MacKenzie F, Tempel W, Ouyang H, Lee WH, Eisenmesser
            EZ and Dhe-Paganon S.
  TITLE     Structural and biochemical characterization of the human
            cyclophilin family of peptidyl-prolyl isomerases
  JOURNAL   PLoS Biol 8 (7), e1000439 (2010)
   PUBMED   20676357
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1210)
  AUTHORS   Sakashita E, Tatsumi S, Werner D, Endo H and Mayeda A.
  TITLE     Human RNPS1 and its associated factors: a versatile alternative
            pre-mRNA splicing regulator in vivo
  JOURNAL   Mol Cell Biol 24 (3), 1174-1187 (2004)
   PUBMED   14729963
  REMARK    Erratum:[Mol Cell Biol. 2004 Apr;24(7):3068]
REFERENCE   3  (residues 1 to 1210)
  AUTHORS   Chambers CA, Gallinger S, Anderson SK, Giardina S, Ortaldo JR,
            Hozumi N and Roder J.
  TITLE     Expression of the NK-TR gene is required for NK-like activity in
            human T cells
  JOURNAL   J Immunol 152 (6), 2669-2674 (1994)
   PUBMED   8144875
REFERENCE   4  (residues 1 to 1210)
  AUTHORS   Rinfret A and Anderson SK.
  TITLE     IL-2 regulates the expression of the NK-TR gene via an alternate
            RNA splicing mechanism
  JOURNAL   Mol Immunol 30 (14), 1307-1313 (1993)
   PUBMED   8413330
REFERENCE   5  (residues 1 to 1210)
  AUTHORS   Young HA, Jenkins NA, Copeland NG, Simek S, Lerman MI, Zbar B,
            Glenn G, Ortaldo JR and Anderson SK.
  TITLE     Localization of a novel natural killer triggering receptor locus to
            human chromosome 3p23-p21 and mouse chromosome 9
  JOURNAL   Genomics 16 (2), 548-549 (1993)
   PUBMED   8314596
REFERENCE   6  (residues 1 to 1210)
  AUTHORS   Anderson SK, Gallinger S, Roder J, Frey J, Young HA and Ortaldo JR.
  TITLE     A cyclophilin-related protein involved in the function of natural
            killer cells
  JOURNAL   Proc Natl Acad Sci U S A 90 (2), 542-546 (1993)
   PUBMED   8421688
REFERENCE   7  (residues 1 to 1210)
  AUTHORS   Frey JL, Bino T, Kantor RR, Segal DM, Giardina SL, Roder J,
            Anderson S and Ortaldo JR.
  TITLE     Mechanism of target cell recognition by natural killer cells:
            characterization of a novel triggering molecule restricted to CD3-
            large granular lymphocytes
  JOURNAL   J Exp Med 174 (6), 1527-1536 (1991)
   PUBMED   1720812
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092047.3 and AC006059.3.
            On Mar 4, 2017 this sequence version replaced XP_011532052.1.
            
            Summary: This gene encodes a membrane-anchored protein with a
            hydrophobic amino terminal domain and a cyclophilin-like PPIase
            domain. It is present on the surface of natural killer cells and
            facilitates their binding to targets. Its expression is regulated
            by IL2 activation of the cells. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (4) contains two alternate exons
            compared to variant 3. The resulting isoform (d) is shorter at the
            N-terminus compared to isoform c.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR749571.1, BX957218.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1210
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.1"
     Protein         1..1210
                     /product="NK-tumor recognition protein isoform d"
                     /EC_number="5.2.1.8"
                     /note="natural killer triggering receptor; NK-tumor
                     recognition protein; natural-killer cells
                     cyclophilin-related protein; NK-TR protein; natural
                     killer-tumor recognition sequence; PPIase; rotamase;
                     peptidyl-prolyl cis-trans isomerase NKTR"
                     /calculated_mol_wt=137247
     CDS             1..1210
                     /gene="NKTR"
                     /gene_synonym="p104"
                     /coded_by="NM_001349125.2:932..4564"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="GeneID:4820"
                     /db_xref="HGNC:HGNC:7833"
                     /db_xref="MIM:161565"
ORIGIN      
        1 mnpkghsers dtnekrsvds sakrekpvvr peeippvpen rfllrrdmpv vtaepepkip
       61 dvapivsdqk psvsksgrki kgrgtiryht pprsrscses ddddssetpp hwkeemqrlr
      121 ayrppsgekw skgdklsdpc ssrwdersls qrsrswsyng yysdlstarh sghhkkrrke
      181 kkvkhkkkgk kqkhcrrhkq tkkrrilips diessksstr rmksscdrer ssrssslssh
      241 hsskrdwsks dkdvqsslth ssrdsyrsks hsqsysrgss rsrtasksss hsrsrsksrs
      301 ssksghrkra sksprktasq lsenkpvkte plratmaqne nvvvqpvvae nipviplsds
      361 pppsrwkpgq kpwkpsyeri qemkaktthl lpiqstysla niketgssss yhkreknses
      421 dqstyskysd rssessprsr srssrsrsys rsytrsrsla sshsrsrsps srshsrnkys
      481 dhsqcsrsss ytsissddgr rakrrlrssg kknsvshkkh ssssektlhs kyvkgrdrss
      541 cvrkysesrs sldyssdseq ssvqatqsaq ekekqgqmer thnkqeknrg eekskserec
      601 phskkrtlke nlsdhlrngs kpkrknyags kwdsesnser dvtknsknds hpssdkeege
      661 atsdsesevs eihikvkptt ksstntslpd dngawksskq rtstsdsegs csnsennrgk
      721 pqkhkhgske nlkrehtkkv keklkgkkdk khkapkrkqa fhwqpplefg eeeeeeiddk
      781 qvtqeskekk vsennetikd nilkteksse edlsgkhdtv tvssdldqft kddsklsisp
      841 talnteenva clqniqhvee svpngvedvl qtddnmeict pdrsspakve etsplgnarl
      901 dtpdinivlk qdmatehpqa evvkqessms eskvlgevgk qdsssaslas agestgkkev
      961 aeksqinlid kkwkplqgvg nlaapnaats savevkvltt vpemkpqglr ieiksknkvr
     1021 pgslfdevrk tarlnrrprn qesssdeqtp srdddsqsrs psrsrskset ksrhrtrsvs
     1081 yshsrsrsrs stssyrsrsy srsrsrgwys rgrtrsrsss yrsykshrts srsrsrsssy
     1141 dphsrssrsy tydsyysrsr srsrsqrsds yhrgrsynrr srscrsygsd sesdrsyshh
     1201 rspsessrys
//
LOCUS       NP_001316870             207 aa            linear   PRI 26-DEC-2022
DEFINITION  putative lipoyltransferase 2, mitochondrial isoform 2 precursor
            [Homo sapiens].
ACCESSION   NP_001316870 XP_011543323
VERSION     NP_001316870.1
DBSOURCE    REFSEQ: accession NM_001329941.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 207)
  AUTHORS   Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt
            I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C,
            Eisermann M, Boutron A, Chretien D, Chadefaux-Vekemans B, Barouki
            R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I,
            Delahodde A, Kolker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom
            TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA and de Lonlay P.
  TITLE     Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation
            Defect Associated with Severe Neonatal Encephalopathy
  JOURNAL   Am J Hum Genet 101 (2), 283-290 (2017)
   PUBMED   28757203
  REMARK    GeneRIF: The authors report on the identification of biallelic
            LIPT2 mutations in three affected individuals from two families
            with severe neonatal encephalopathy where a normalization of
            lipoylation was observed after expression of wild-type LIPT2,
            arguing for LIPT2 requirement in intramitochondrial lipoate
            synthesis.
REFERENCE   2  (residues 1 to 207)
  AUTHORS   Bernardinelli E, Costa R, Scantamburlo G, To J, Morabito R,
            Nofziger C, Doerrier C, Krumschnabel G, Paulmichl M and Dossena S.
  TITLE     Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic
            cell death
  JOURNAL   PLoS One 12 (6), e0179591 (2017)
   PUBMED   28628643
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 207)
  AUTHORS   Mayr JA, Feichtinger RG, Tort F, Ribes A and Sperl W.
  TITLE     Lipoic acid biosynthesis defects
  JOURNAL   J Inherit Metab Dis 37 (4), 553-563 (2014)
   PUBMED   24777537
  REMARK    Review article
REFERENCE   4  (residues 1 to 207)
  AUTHORS   Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd
            C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E,
            Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K,
            Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC,
            Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES
            and Sakaki Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001372.4.
            On Aug 7, 2016 this sequence version replaced XP_011543323.2.
            
            Summary: This gene encodes a mitochondrial protein that catalyzes
            the transfer of octanoic acid to lipoate-dependent enzymes such as
            octanoyl-ACP. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2016].
            
            Transcript Variant: This variant (2) uses an alternate splice site,
            which results in a frameshift, compared to variant 1. The encoded
            isoform (2) has a shorter, distinct C-terminus compared to isoform
            1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL598883.1, HY052529.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..207
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..207
                     /product="putative lipoyltransferase 2, mitochondrial
                     isoform 2 precursor"
                     /EC_number="2.3.1.181"
                     /note="putative octanoyltransferase, mitochondrial;
                     putative lipoyltransferase 2, mitochondrial;
                     lipoate-protein ligase B;
                     octanoyl-[acyl-carrier-protein]-protein
                     N-octanoyltransferase; lipoyl(octanoyl) transferase 2
                     (putative)"
                     /calculated_mol_wt=22179
     Region          7..>156
                     /region_name="BPL_LplA_LipB"
                     /note="biotin-lipoate ligase family; cl14057"
                     /db_xref="CDD:449326"
     Site            order(19..20,50,57..60,88..92,98..100,143..144,151,
                     154..156)
                     /site_type="active"
                     /db_xref="CDD:319740"
     CDS             1..207
                     /gene="LIPT2"
                     /coded_by="NM_001329941.2:22..645"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="GeneID:387787"
                     /db_xref="HGNC:HGNC:37216"
                     /db_xref="MIM:617659"
ORIGIN      
        1 mrqpavrlvr lgrvpyaell glqdrwlrrl qaepgieaps gteagalllc epagpvytag
       61 lrggltpeet arlralgaev rvtgrgglat fhgpgqllch pvldlrrlgl rlrmhvasle
      121 acavrlcelq glqdararpp pytgvwlddr kicaigerrg agrylraees avegtshpta
      181 wlstalptsr glstscpvdw lgqaslp
//
LOCUS       NP_001337912             380 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger and SCAN domain-containing protein 25 isoform b [Homo
            sapiens].
ACCESSION   NP_001337912 XP_016867314
VERSION     NP_001337912.1
DBSOURCE    REFSEQ: accession NM_001350983.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 380)
  AUTHORS   Zhang X, Zheng Q, Yue X, Yuan Z, Ling J, Yuan Y, Liang Y, Sun A,
            Liu Y, Li H, Xu K, He F, Wang J, Wu J, Zhao C and Tian C.
  TITLE     ZNF498 promotes hepatocellular carcinogenesis by suppressing
            p53-mediated apoptosis and ferroptosis via the attenuation of p53
            Ser46 phosphorylation
  JOURNAL   J Exp Clin Cancer Res 41 (1), 79 (2022)
   PUBMED   35227287
  REMARK    GeneRIF: ZNF498 promotes hepatocellular carcinogenesis by
            suppressing p53-mediated apoptosis and ferroptosis via the
            attenuation of p53 Ser46 phosphorylation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 380)
  AUTHORS   Shin SY, Fauman EB, Petersen AK, Krumsiek J, Santos R, Huang J,
            Arnold M, Erte I, Forgetta V, Yang TP, Walter K, Menni C, Chen L,
            Vasquez L, Valdes AM, Hyde CL, Wang V, Ziemek D, Roberts P, Xi L,
            Grundberg E, Waldenberger M, Richards JB, Mohney RP, Milburn MV,
            John SL, Trimmer J, Theis FJ, Overington JP, Suhre K, Brosnan MJ,
            Gieger C, Kastenmuller G, Spector TD and Soranzo N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   3  (residues 1 to 380)
  AUTHORS   Thompson EE, Kuttab-Boulos H, Yang L, Roe BA and Di Rienzo A.
  TITLE     Sequence diversity and haplotype structure at the human CYP3A
            cluster
  JOURNAL   Pharmacogenomics J 6 (2), 105-114 (2006)
   PUBMED   16314882
REFERENCE   4  (residues 1 to 380)
  AUTHORS   Laity JH, Lee BM and Wright PE.
  TITLE     Zinc finger proteins: new insights into structural and functional
            diversity
  JOURNAL   Curr Opin Struct Biol 11 (1), 39-46 (2001)
   PUBMED   11179890
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005020.5.
            On Apr 28, 2017 this sequence version replaced XP_016867314.1.
            
            Summary: This gene encodes a protein that bears some similarity to
            zinc finger proteins, which are involved in DNA binding and
            protein-protein interactions. Multiple alternatively spliced
            transcript variants have been identified, but the full-length
            nature for most of them has not been determined. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (6), as well as variants 4 and 5,
            encodes isoform b.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.139707.1,
                                           SRR1803615.174796.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..380
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     Protein         1..380
                     /product="zinc finger and SCAN domain-containing protein
                     25 isoform b"
                     /note="zinc finger and SCAN domain-containing protein 25;
                     zinc finger protein 498"
                     /calculated_mol_wt=42307
     Region          67..>95
                     /region_name="KRAB_A-box"
                     /note="KRAB (Kruppel-associated box) domain -A box;
                     cd07765"
                     /db_xref="CDD:143639"
     Region          <160..340
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          186..206
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          213..233
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          241..261
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(246,248,250,252..253,256..257,260,274,276,280..281,
                     284..285,288,301,303,305,307..308,311..312,315)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          269..289
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          297..316
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          324..344
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          337..361
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          352..371
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..380
                     /gene="ZSCAN25"
                     /gene_synonym="ZNF498"
                     /coded_by="NM_001350983.2:826..1968"
                     /note="isoform b is encoded by transcript variant 6"
                     /db_xref="GeneID:221785"
                     /db_xref="HGNC:HGNC:21961"
ORIGIN      
        1 mppgegvqgp dpgteeqlsq dpgdetrafq eqalpvlqag pglpavnprd qemaagffta
       61 gsqglgpfkd malafpeeew rhvtpaqidc fgeyvepqdc rvspgggske keakppqedl
      121 kgalvaltse rfgeaslqgp glgrvceqep ggpagsapgl pppqhgaipl pdevkthssf
      181 wkpfqcpecg kgfsrssnlv rhqrtheeks ygcvecgkgf tlreylmkhq rthlgkrpyv
      241 csecwktfsq rhhlevhqrs htgekpykcg dcwksfsrrq hlqvhrrtht gekpytcecg
      301 ksfsrnanla vhrrahtgek pygcqvcgkr fskgerlvrh qrihtgekpy hcpacgrsfn
      361 qrsilnrhqk tqhrqeplvq
//
LOCUS       NP_001361412             366 aa            linear   PRI 27-DEC-2022
DEFINITION  GPI mannosyltransferase 2 isoform b [Homo sapiens].
ACCESSION   NP_001361412
VERSION     NP_001361412.1
DBSOURCE    REFSEQ: accession NM_001374483.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 366)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 366)
  AUTHORS   Horn D, Wieczorek D, Metcalfe K, Baric I, Palezac L, Cuk M,
            Petkovic Ramadza D, Kruger U, Demuth S, Heinritz W, Linden T,
            Koenig J, Robinson PN and Krawitz P.
  TITLE     Delineation of PIGV mutation spectrum and associated phenotypes in
            hyperphosphatasia with mental retardation syndrome
  JOURNAL   Eur J Hum Genet 22 (6), 762-767 (2014)
   PUBMED   24129430
  REMARK    GeneRIF: Data indicate that mannosyltransferases PIGV mutations are
            the major cause of hyperphosphatasia-mental retardation syndrome
            (HPMRS) which displays a broad clinical variability regarding
            associated malformations and growth patterns.
REFERENCE   3  (residues 1 to 366)
  AUTHORS   Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni
            S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS,
            Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R,
            Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K,
            Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K,
            Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen
            M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson
            PKE, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte
            IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena
            R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ,
            Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik
            EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher
            D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL,
            Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney ASF, Doring
            A, Elliott P, Epstein SE, Ingi Eyjolfsson G, Gigante B, Goodarzi
            MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL,
            Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones
            MR, Kaleebu P, Kastelein JJP, Khaw KT, Kim E, Klopp N, Komulainen
            P, Kumari M, Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos
            RJF, Mach F, McArdle WL, Meisinger C, Mitchell BD, Muller G,
            Nagaraja R, Narisu N, Nieminen TVM, Nsubuga RN, Olafsson I, Ong KK,
            Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP,
            Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl
            H, Seeley J, Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret
            L, Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga
            C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH,
            Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud
            M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier
            M, Campbell H, Chakravarti A, Chambers JC, Chen YI, Collins FS,
            Cooper RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrieres
            J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V,
            Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN,
            Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K,
            Iribarren C, Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A,
            Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J,
            Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz
            W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L,
            Morris AD, Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller
            PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D,
            Salomaa V, Sanghera DK, Saramies J, Schwarz PEH, Sheu WH, Shuldiner
            AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO,
            Tremoli E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P,
            Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BHR, Ordovas
            JM, Boerwinkle E, Palmer CNA, Thorsteinsdottir U, Chasman DI,
            Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS,
            Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E and
            Abecasis GR.
  CONSRTM   Global Lipids Genetics Consortium
  TITLE     Discovery and refinement of loci associated with lipid levels
  JOURNAL   Nat Genet 45 (11), 1274-1283 (2013)
   PUBMED   24097068
REFERENCE   4  (residues 1 to 366)
  AUTHORS   Hirata T, Fujita M, Kanzawa N, Murakami Y, Maeda Y and Kinoshita T.
  TITLE     Glycosylphosphatidylinositol mannosyltransferase II is the
            rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis
            under limited dolichol-phosphate mannose availability
  JOURNAL   J Biochem 154 (3), 257-264 (2013)
   PUBMED   23694781
  REMARK    GeneRIF: PIGV is the rate-limiting enzyme in GPI biosynthesis under
            limited dolicholphosphate mannose availability.
REFERENCE   5  (residues 1 to 366)
  AUTHORS   Murakami Y, Kanzawa N, Saito K, Krawitz PM, Mundlos S, Robinson PN,
            Karadimitris A, Maeda Y and Kinoshita T.
  TITLE     Mechanism for release of alkaline phosphatase caused by
            glycosylphosphatidylinositol deficiency in patients with
            hyperphosphatasia mental retardation syndrome
  JOURNAL   J Biol Chem 287 (9), 6318-6325 (2012)
   PUBMED   22228761
  REMARK    GeneRIF: Hyperphosphatasia resulted from secretion of ALP, a
            GPI-anchored protein normally expressed on the cell surface, into
            serum due to PIGV deficiency.
REFERENCE   6  (residues 1 to 366)
  AUTHORS   Horn D, Krawitz P, Mannhardt A, Korenke GC and Meinecke P.
  TITLE     Hyperphosphatasia-mental retardation syndrome due to PIGV
            mutations: expanded clinical spectrum
  JOURNAL   Am J Med Genet A 155A (8), 1917-1922 (2011)
   PUBMED   21739589
  REMARK    GeneRIF: novel compound heterozygous mutations in the PIGV gene
            c.467G>A and c.1022C>A and a homozygous mutation c.1022C>A in
            hyperphosphatasia-mental retardation syndrome
REFERENCE   7  (residues 1 to 366)
  AUTHORS   Krawitz PM, Schweiger MR, Rodelsperger C, Marcelis C, Kolsch U,
            Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M,
            Fischer A, Dahl A, Kerick M, Hecht J, Kohler S, Jager M, Grunhagen
            J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E,
            Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S and Robinson
            PN.
  TITLE     Identity-by-descent filtering of exome sequence data identifies
            PIGV mutations in hyperphosphatasia mental retardation syndrome
  JOURNAL   Nat Genet 42 (10), 827-829 (2010)
   PUBMED   20802478
  REMARK    GeneRIF: PIGV mutations are associated with hyperphosphatasia
            mental retardation syndrome.
REFERENCE   8  (residues 1 to 366)
  AUTHORS   Kang JY, Hong Y, Ashida H, Shishioh N, Murakami Y, Morita YS, Maeda
            Y and Kinoshita T.
  TITLE     PIG-V involved in transferring the second mannose in
            glycosylphosphatidylinositol
  JOURNAL   J Biol Chem 280 (10), 9489-9497 (2005)
   PUBMED   15623507
  REMARK    GeneRIF: PIG-V is the second mannosyltransferase in GPI anchor
            biosynthesis.
REFERENCE   9  (residues 1 to 366)
  AUTHORS   Fabre AL, Orlean P and Taron CH.
  TITLE     Saccharomyces cerevisiae Ybr004c and its human homologue are
            required for addition of the second mannose during
            glycosylphosphatidylinositol precursor assembly
  JOURNAL   FEBS J 272 (5), 1160-1168 (2005)
   PUBMED   15720390
REFERENCE   10 (residues 1 to 366)
  AUTHORS   Kinoshita T and Inoue N.
  TITLE     Dissecting and manipulating the pathway for
            glycosylphos-phatidylinositol-anchor biosynthesis
  JOURNAL   Curr Opin Chem Biol 4 (6), 632-638 (2000)
   PUBMED   11102867
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL034380.26.
            
            Summary: This gene encodes a mannosyltransferase enzyme involved in
            the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a
            complex glycolipid that functions as a membrane anchor for many
            proteins and plays a role in multiple cellular processes including
            protein sorting and signal transduction. The encoded protein is
            localized to the endoplasmic reticulum and transfers the second
            mannose to the GPI backbone. Mutations in this gene are associated
            with hyperphosphatasia cognitive disability syndrome. Alternatively
            spliced transcript variants have been observed for this gene.
            [provided by RefSeq, Feb 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.245997.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465403 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..366
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     Protein         1..366
                     /product="GPI mannosyltransferase 2 isoform b"
                     /EC_number="2.3.1.225"
                     /note="Ybr004c homolog; GPI mannosyltransferase 2; GPI
                     mannosyltransferase II; dol-P-Man dependent GPI
                     mannosyltransferase; dol-P-Man dependent GPI
                     mannosyltransferase II"
                     /calculated_mol_wt=41278
     Region          <1..366
                     /region_name="PMT_2"
                     /note="Dolichyl-phosphate-mannose-protein
                     mannosyltransferase; cl21590"
                     /db_xref="CDD:451323"
     CDS             1..366
                     /gene="PIGV"
                     /gene_synonym="GPI-MT-II; HPMRS1; PIG-V"
                     /coded_by="NM_001374483.1:562..1662"
                     /note="isoform b is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS90894.1"
                     /db_xref="GeneID:55650"
                     /db_xref="HGNC:HGNC:26031"
                     /db_xref="MIM:610274"
ORIGIN      
        1 mlaavalhdl gclvlhcphq sfyaallfcl spanvflaag ysealfallt fsamgqlerg
       61 rvwtsvllfa fatgvrsngl vsvgflmhsq cqgffssltm lnplrqlfkl maslflsvft
      121 lglpfalfqy yaytqfclpg sarpipeplv qlavdkgyri aegneppwcf wdvpliysyi
      181 qdvywnvgfl kyyelkqvpn fllaapvail vawatwtyvt thpwlcltlg lqrsknnktl
      241 ekpdlgflsp qvfvyvvhaa vlllfgglcm hvqvltrflg sstpimywfp ahllqdqepl
      301 lrslktvpwk plaedsppgq kvprnpimgl lyhwktcspv tryilgyflt ywllglllhc
      361 nflpwt
//
LOCUS       NP_001372341             670 aa            linear   PRI 29-DEC-2022
DEFINITION  neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens].
ACCESSION   NP_001372341
VERSION     NP_001372341.1
DBSOURCE    REFSEQ: accession NM_001385412.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 670)
  AUTHORS   Wu H, Zhai LT, Guo XX, Rety S and Xi XG.
  TITLE     The N-terminal of NBPF15 causes multiple types of aggregates and
            mediates phase transition
  JOURNAL   Biochem J 477 (2), 445-458 (2020)
   PUBMED   31808794
  REMARK    GeneRIF: We suggest that the entanglements between the mosaic
            disorder-ordered segments in NBPF15 N terminus have triggered the
            multiple types of aggregates and phase transition of NBPF15
            proteins, which could be associated with Olduvai-related cognitive
            dysfunction diseases
REFERENCE   2  (residues 1 to 670)
  AUTHORS   O'Bleness MS, Dickens CM, Dumas LJ, Kehrer-Sawatzki H, Wyckoff GJ
            and Sikela JM.
  TITLE     Evolutionary history and genome organization of DUF1220 protein
            domains
  JOURNAL   G3 (Bethesda) 2 (9), 977-986 (2012)
   PUBMED   22973535
REFERENCE   3  (residues 1 to 670)
  AUTHORS   Vandepoele K, Van Roy N, Staes K, Speleman F and van Roy F.
  TITLE     A novel gene family NBPF: intricate structure generated by gene
            duplications during primate evolution
  JOURNAL   Mol Biol Evol 22 (11), 2265-2274 (2005)
   PUBMED   16079250
REFERENCE   4  (residues 1 to 670)
  AUTHORS   Rual JF, Hirozane-Kishikawa T, Hao T, Bertin N, Li S, Dricot A, Li
            N, Rosenberg J, Lamesch P, Vidalain PO, Clingingsmith TR, Hartley
            JL, Esposito D, Cheo D, Moore T, Simmons B, Sequerra R, Bosak S,
            Doucette-Stamm L, Le Peuch C, Vandenhaute J, Cusick ME, Albala JS,
            Hill DE and Vidal M.
  TITLE     Human ORFeome version 1.1: a platform for reverse proteomics
  JOURNAL   Genome Res 14 (10B), 2128-2135 (2004)
   PUBMED   15489335
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC246785.2.
            
            Summary: This gene is a member of the neuroblastoma breakpoint
            family (NBPF) which consists of dozens of recently duplicated genes
            primarily located in segmental duplications on human chromosome 1.
            This gene family has experienced its greatest expansion within the
            human lineage and has expanded, to a lesser extent, among primates
            in general. Members of this gene family are characterized by
            tandemly repeated copies of DUF1220 protein domains. Gene copy
            number variations in the human chromosomal region 1q21.1, where
            most DUF1220 domains are located, have been implicated in a number
            of developmental and neurogenetic diseases such as microcephaly,
            macrocephaly, autism, schizophrenia, cognitive disability,
            congenital heart disease, neuroblastoma, and congenital kidney and
            urinary tract anomalies. Altered expression of some gene family
            members is associated with several types of cancer. This gene
            family contains numerous pseudogenes. [provided by RefSeq, May
            2013].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.585741.1,
                                           SRR1660805.68949.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..670
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.1"
     Protein         1..670
                     /product="neuroblastoma breakpoint family member 15
                     isoform 1"
                     /note="neuroblastoma breakpoint family, member 16;
                     neuroblastoma breakpoint family member 15"
                     /calculated_mol_wt=77432
     Region          177..240
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          180..201
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N660.2)"
     Region          242..295
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N660.2)"
     Region          271..325
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          334..401
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          409..476
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          484..551
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     Region          558..588
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N660.2)"
     Region          582..644
                     /region_name="DUF1220"
                     /note="Repeat of unknown function (DUF1220); pfam06758"
                     /db_xref="CDD:429104"
     CDS             1..670
                     /gene="NBPF15"
                     /gene_synonym="AB14; AG3; NBPF16"
                     /coded_by="NM_001385412.1:1359..3371"
                     /note="isoform 1 is encoded by transcript variant 18"
                     /db_xref="CCDS:CCDS72852.1"
                     /db_xref="GeneID:284565"
                     /db_xref="HGNC:HGNC:28791"
                     /db_xref="MIM:610414"
ORIGIN      
        1 mvvsagplss ekaemnilei neklrpqlae kkqqfrnlke kcfltqlagf lanrqkkyky
       61 eeckdlikfm lrnerqfkee klaeqlkqae elrqykvlvh aqereltqlr eklregrdas
      121 rslnehlqal ltpdepdksq gqdlqeqlae gcrltqhlvq klspendndd dedvqvevae
      181 kvqkssapre mqkaeekevp edsleecait csnshgpyds nqphkktkit feedkvdstl
      241 igssshvewe davhiipene sddeeeeekg pvsprnlqes eeeevpqesw degystlsip
      301 pemlasyqsy sstfhsleeq qvcmavdigr hrwdqvkked qeatgprlsr elldekepev
      361 lqdsldrcys tpsgcleltd scqpyrsafy vleqqrvgla idmdeiekyq eveedqdpsc
      421 prlsrellde kepevlqdsl drcystpsdy lelpdlgqpy ssavysleeq ylglaldvdr
      481 ikkdqeeeed qgppcprlsr ellevvepev lqdsldrcys tpsscleqpd scqpygssfy
      541 aleekhvgfs ldvgeiekkg kgkkrrgrrs kkkrrrgrke geddnppcpr lygvlmevee
      601 pevlqdsldr cystpsmyfe qpdsfqhyrs vfysfeeehi sfalyvdnrf ftltvtslhl
      661 vfqmgvifpq
//
LOCUS       NP_056057               1205 aa            linear   PRI 29-DEC-2022
DEFINITION  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing
            protein 1 isoform a [Homo sapiens].
ACCESSION   NP_056057 NP_631920
VERSION     NP_056057.2
DBSOURCE    REFSEQ: accession NM_015242.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1205)
  AUTHORS   Shao A, Lopez AJ, Chen J, Tham A, Javier S, Quiroz A, Frick S,
            Levine EM, Lloyd KCK, Leonard BC, Murphy CJ, Glaser TM and Moshiri
            A.
  TITLE     Arap1 loss causes retinal pigment epithelium phagocytic dysfunction
            and subsequent photoreceptor death
  JOURNAL   Dis Model Mech 15 (7) (2022)
   PUBMED   35758026
  REMARK    GeneRIF: Arap1 loss causes retinal pigment epithelium phagocytic
            dysfunction and subsequent photoreceptor death.
REFERENCE   2  (residues 1 to 1205)
  AUTHORS   Bailetti D, Sentinelli F, Prudente S, Cimini FA, Barchetta I,
            Totaro M, Di Costanzo A, Barbonetti A, Leonetti F, Cavallo MG and
            Baroni MG.
  TITLE     Deep Resequencing of 9 Candidate Genes Identifies a Role for ARAP1
            and IGF2BP2 in Modulating Insulin Secretion Adjusted for Insulin
            Resistance in Obese Southern Europeans
  JOURNAL   Int J Mol Sci 23 (3), 1221 (2022)
   PUBMED   35163144
  REMARK    GeneRIF: Deep Resequencing of 9 Candidate Genes Identifies a Role
            for ARAP1 and IGF2BP2 in Modulating Insulin Secretion Adjusted for
            Insulin Resistance in Obese Southern Europeans.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1205)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   4  (residues 1 to 1205)
  AUTHORS   Li X, Ma TK, Wen S, Li LL, Xu L, Zhu XW, Zhang CX, Liu N, Wang X
            and Fan QL.
  TITLE     LncRNA ARAP1-AS2 promotes high glucose-induced human proximal
            tubular cell injury via persistent transactivation of the EGFR by
            interacting with ARAP1
  JOURNAL   J Cell Mol Med 24 (22), 12994-13009 (2020)
   PUBMED   32969198
  REMARK    GeneRIF: LncRNA ARAP1-AS2 promotes high glucose-induced human
            proximal tubular cell injury via persistent transactivation of the
            EGFR by interacting with ARAP1.
REFERENCE   5  (residues 1 to 1205)
  AUTHORS   Li Y, Shen K, Li C, Yang Y, Yang M, Tao W, He S, Shi L and Yao Y.
  TITLE     Identifying the association between single nucleotide polymorphisms
            in KCNQ1, ARAP1, and KCNJ11 and type 2 diabetes mellitus in a
            Chinese population
  JOURNAL   Int J Med Sci 17 (15), 2379-2386 (2020)
   PUBMED   32922204
  REMARK    GeneRIF: Identifying the association between single nucleotide
            polymorphisms in KCNQ1, ARAP1, and KCNJ11 and type 2 diabetes
            mellitus in a Chinese population.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1205)
  AUTHORS   Cuthbert EJ, Davis KK and Casanova JE.
  TITLE     Substrate specificities and activities of AZAP family Arf GAPs in
            vivo
  JOURNAL   Am J Physiol Cell Physiol 294 (1), C263-C270 (2008)
   PUBMED   18003747
  REMARK    GeneRIF: ARAP1 acts primarily on Arf6 in vivo.
REFERENCE   7  (residues 1 to 1205)
  AUTHORS   Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H,
            Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff
            S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksoz E, Droege A,
            Krobitsch S, Korn B, Birchmeier W, Lehrach H and Wanker EE.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
REFERENCE   8  (residues 1 to 1205)
  AUTHORS   Ahn J, Chung KS, Kim DU, Won M, Kim L, Kim KS, Nam M, Choi SJ, Kim
            HC, Yoon M, Chae SK and Hoe KL.
  TITLE     Systematic identification of hepatocellular proteins interacting
            with NS5A of the hepatitis C virus
  JOURNAL   J Biochem Mol Biol 37 (6), 741-748 (2004)
   PUBMED   15607035
REFERENCE   9  (residues 1 to 1205)
  AUTHORS   Miura K, Jacques KM, Stauffer S, Kubosaki A, Zhu K, Hirsch DS,
            Resau J, Zheng Y and Randazzo PA.
  TITLE     ARAP1: a point of convergence for Arf and Rho signaling
  JOURNAL   Mol Cell 9 (1), 109-119 (2002)
   PUBMED   11804590
REFERENCE   10 (residues 1 to 1205)
  AUTHORS   Krugmann S, Anderson KE, Ridley SH, Risso N, McGregor A, Coadwell
            J, Davidson K, Eguinoa A, Ellson CD, Lipp P, Manifava M, Ktistakis
            N, Painter G, Thuring JW, Cooper MA, Lim ZY, Holmes AB, Dove SK,
            Michell RH, Grewal A, Nazarian A, Erdjument-Bromage H, Tempst P,
            Stephens LR and Hawkins PT.
  TITLE     Identification of ARAP3, a novel PI3K effector regulating both Arf
            and Rho GTPases, by selective capture on phosphoinositide affinity
            matrices
  JOURNAL   Mol Cell 9 (1), 95-108 (2002)
   PUBMED   11804589
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA186424.1, AB018325.2 and
            BC008315.1.
            On or before Sep 25, 2008 this sequence version replaced
            NP_631920.1, NP_056057.1.
            
            Summary: The protein encoded by this gene contains SAM, ARF-GAP,
            RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology
            (PH) domains. In vitro, this protein displays RHO-GAP and
            phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP
            activity. The encoded protein associates with the Golgi, and the
            ARF-GAP activity mediates changes in the Golgi and the formation of
            filopodia. It is thought to regulate the cell-specific trafficking
            of a receptor protein involved in apoptosis. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Sep 2008].
            
            Transcript Variant: This variant (1) differs in the 5' UTR,
            compared to variant 3. This difference causes translation
            initiation at a downstream AUG and an isoform (a) with a shorter
            N-terminus compared to isoform c.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.104813.1, AB018325.2
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..1205
                     /product="arf-GAP with Rho-GAP domain, ANK repeat and PH
                     domain-containing protein 1 isoform a"
                     /note="ARF-GAP, RHO-GAP, ankyrin repeat, and pleckstrin
                     homology domains-containing protein 1; arf-GAP with
                     Rho-GAP domain, ANK repeat and PH domain-containing
                     protein 1; centaurin-delta-2"
                     /calculated_mol_wt=135704
     Region          84..176
                     /region_name="PH1_ARAP"
                     /note="ArfGAP with RhoGAP domain, ankyrin repeat and PH
                     domain Pleckstrin homology (PH) domain, repeat 1; cd13253"
                     /db_xref="CDD:270073"
     Region          191..280
                     /region_name="PH2_ARAP"
                     /note="ArfGAP with RhoGAP domain, ankyrin repeat and PH
                     domain Pleckstrin homology (PH) domain, repeat 2; cd13254"
                     /db_xref="CDD:270074"
     Region          290..405
                     /region_name="ArfGap_ARAP"
                     /note="ArfGap with Rho-Gap domain, ANK repeat and PH
                     domain-containing proteins; cd08837"
                     /db_xref="CDD:350066"
     Site            order(305,308,325,328,333)
                     /site_type="other"
                     /note="arginine finger"
                     /db_xref="CDD:350066"
     Site            order(305,308,325,328)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:350066"
     Region          498..604
                     /region_name="PH3_ARAP"
                     /note="ArfGAP with RhoGAP domain, ankyrin repeat and PH
                     domain Pleckstrin homology (PH) domain, repeat 3; cd13256"
                     /db_xref="CDD:270076"
     Region          617..707
                     /region_name="PH4_ARAP"
                     /note="ArfGAP with RhoGAP domain, ankyrin repeat and PH
                     domain Pleckstrin homology (PH) domain, repeat 4; cd13257"
                     /db_xref="CDD:270077"
     Region          711..890
                     /region_name="RhoGAP_ARAP"
                     /note="RhoGAP (GTPase-activator protein [GAP] for Rho-like
                     small GTPases) domain present in ARAPs. ARAPs (also known
                     as centaurin deltas) contain, besides the RhoGAP domain,
                     an Arf GAP, ankyrin repeat ras-associating, and PH
                     domains. Since their ArfGAP activity...; cd04385"
                     /db_xref="CDD:239850"
     Site            order(748,787,791,860,863..864,880)
                     /site_type="other"
                     /note="putative GTPase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:239850"
     Site            748
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:239850"
     Region          926..1018
                     /region_name="RA_ARAP1"
                     /note="Ras-associating (RA) domain found in Arf-GAP with
                     Rho-GAP domain, ANK repeat and PH domain-containing
                     protein 1 (ARAP1); cd17226"
                     /db_xref="CDD:340746"
     Region          1018..1157
                     /region_name="PH5_ARAP"
                     /note="ArfGAP with RhoGAP domain, ankyrin repeat and PH
                     domain Pleckstrin homology (PH) domain, repeat 5; cd13259"
                     /db_xref="CDD:270079"
     CDS             1..1205
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /coded_by="NM_015242.5:718..4335"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS8217.2"
                     /db_xref="GeneID:116985"
                     /db_xref="HGNC:HGNC:16925"
                     /db_xref="MIM:606646"
ORIGIN      
        1 mtkkeeppps rvpravrvas llsegeelsg ddqgdeeedd hayegvpngg whtsslslsl
       61 pstiaaphpm dgppggstpv tpvikagwld knppqgsyiy qkrwvrldtd hlryfdsnkd
      121 ayskrfisva cishvaaigd qkfevitnnr tfafraesdv erkewmqalq qamaeqrara
      181 rlssayllgv pgseqpdrag slelrgfknk lyvavvgdkv qlyknleeyh lgigitfidm
      241 svgnvkevdr rsfdlttpyr ifsfsadsel ekeqwleamq gaiaealsts evaeriwaaa
      301 pnrfcadcga pqpdwasinl cvvickrcag ehrglgagvs kvrslkmdrk vwtetlielf
      361 lqlgngagnr fwaanvppse alqpssspst rrchleakyr egkyrryhpl fgnqeeldka
      421 lcaavtttdl aetqallgcg agincfsgdp eaptplalae qagqtlqmef lrnnrttevp
      481 rldsmkplek hysvvlptvs hsgflyktas agkllqdrra reefsrrwcv lgdgvlsyfe
      541 neravtpnge iraseivcla vpppdthgfe htfevytege rlylfglesa eqahewvkci
      601 akafvpplae dllardferl grlpykagls lqraqegwfs lsgselravf pegpceeplq
      661 lrklqelsiq gdsenqvlvl verrrtlyiq gerrldfmgw lgaiqkaaas mgdtlseqql
      721 gdsdipvivy rcvdyitqcg ltsegiyrkc gqtsktqrll eslrqdarsv hlkegeqhvd
      781 dvssalkrfl rdlpdglftr aqrltwleas eiedeeekvs ryrellvrlp pvnratvkal
      841 ishlycvqcf sdtnqmnvhn laivfgptlf qtdgqdykag rvvedlinhy vvvfsvdeee
      901 lrkqreeita ivkmrvagta sgtqhagdfi ctvyleekka eteqhikvpa smtaeeltle
      961 ildrrnvgir ekdywtcfev nereeaerpl hfaekvlpil hglgtdshlv vkkhqameam
     1021 llylasrvgd tkhgmmkfre drsllglglp sggfhdryfi lnssclrlyk evrsqrpwsg
     1081 apetshrpek ewpikslkvy lgvkkklrpp tcwgftvvhe tekhekqqwy lccdtqmelr
     1141 ewfatflfvq hdglvwpsep srvsravpev rlgsvslipl rgsenemrrs vaaftadpls
     1201 llrnv
//
LOCUS       NP_001381412            1029 aa            linear   PRI 31-DEC-2022
DEFINITION  protein KRBA1 isoform 7 [Homo sapiens].
ACCESSION   NP_001381412
VERSION     NP_001381412.1
DBSOURCE    REFSEQ: accession NM_001394483.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1029)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL,
            Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P,
            Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy
            SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH,
            Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW,
            Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J,
            Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M,
            Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW,
            Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J,
            Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U,
            Smailus DE, Schnerch A, Schein JE, Jones SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
REFERENCE   2  (residues 1 to 1029)
  AUTHORS   Nagase T, Nakayama M, Nakajima D, Kikuno R and Ohara O.
  TITLE     Prediction of the coding sequences of unidentified human genes. XX.
            The complete sequences of 100 new cDNA clones from brain which code
            for large proteins in vitro
  JOURNAL   DNA Res 8 (2), 85-95 (2001)
   PUBMED   11347906
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004897.1 and KF459639.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR14038192.2471515.1, SRR7346977.1995225.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2159912 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1029
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     Protein         1..1029
                     /product="protein KRBA1 isoform 7"
                     /note="protein KRBA1"
                     /calculated_mol_wt=107296
     Region          27..56
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A5PL33.3)"
     Region          <93..522
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            101
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (A5PL33.3)"
     Site            176
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (A5PL33.3)"
     Site            181
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (A5PL33.3)"
     Site            183
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (A5PL33.3)"
     Region          194..236
                     /region_name="KRBA1"
                     /note="KRBA1 family repeat; pfam15287"
                     /db_xref="CDD:434598"
     Region          224..254
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A5PL33.3)"
     Site            228
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (A5PL33.3)"
     Site            252
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (A5PL33.3)"
     Region          280..504
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A5PL33.3)"
     Site            354
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (A5PL33.3)"
     Region          633..787
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A5PL33.3)"
     Region          869..1029
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A5PL33.3)"
     CDS             1..1029
                     /gene="KRBA1"
                     /coded_by="NM_001394483.1:334..3423"
                     /note="isoform 7 is encoded by transcript variant 8"
                     /db_xref="GeneID:84626"
                     /db_xref="HGNC:HGNC:22228"
ORIGIN      
        1 mrenyetlvs vgtaellpls aflspsepgr avgggshade gqepagcgdp qggqprhslh
       61 ltalvqlvke ipeflfgevk gamdspeses rgasldgera speaaarepc plrgllsclp
      121 dgptsqphla ttptdsscss gptgdgvqgs plpiktadkp wptrkegpga lggepsppth
      181 spsrrkshrg qergtseagi spgnsplqgl inclkeilvp gprhpetsps flpplpslgt
      241 srltradlgp gsppwavkte avsgdcplqg llhclkelpe aqdrhpspsg vgnrrlqenp
      301 gawkrgsggp gylltppphp dlgaggllsv kmenswvqsp pgpascqpgr qplspsatgd
      361 trgvpqpswg peaqaasass splealeacl kgippngssp sqlpptscsq npqpgdsrsq
      421 kpelqphrsh seeatrepvl plglqscvrd gpsrplaprg tptsfsssss tdwdldfgsp
      481 vgnqgqhpgk gsppgssplq glenclkeip vpvlrpawpc ssaadrgprr aeprnwtadk
      541 eglraeaces arlgqgrgea ptrslhlvsp qvftsscvpa chqrgfkdpg atrpgvwrwl
      601 pegsapkpsp lhclesalrg ilpvrplrfa cvggpspsps pgssssfsgs egedprpepd
      661 lwkplpqerd rlpsckppvp lspcpggtpa gssggspged prrteprycs glgagtaqdp
      721 cpvsqlekrp rvseasrgle lghgrprvaa ktherllpqg ppelpsespp pelpppeaap
      781 pvlpasslqp pchcgkplqq elhslgaala ekldrlatal aglaqevatm rtqvnrlgrr
      841 pqgpgpmgqa swmwtlprgp rwahgpghrh lpywrqkgpt rpkpkilrgq gescragdlq
      901 glsrgtarra rplppdappa eppglhcsss qqllsstpsc haappahpll ahtgghqspl
      961 pplvpaalpl qgasppaasa dadvptsgva pdgiperpke pssllggvqr alqeelwgge
     1021 hrdprwgah
//
LOCUS       NP_976313                683 aa            linear   PRI 22-JAN-2023
DEFINITION  long-chain-fatty-acid--CoA ligase 5 isoform b [Homo sapiens].
ACCESSION   NP_976313
VERSION     NP_976313.1
DBSOURCE    REFSEQ: accession NM_203379.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 683)
  AUTHORS   Zhang L, Liu X, Liu Y, Yan F, Zeng Y, Song Y, Fang H, Song D and
            Wang X.
  TITLE     Lysophosphatidylcholine inhibits lung cancer cell proliferation by
            regulating fatty acid metabolism enzyme long-chain acyl-coenzyme A
            synthase 5
  JOURNAL   Clin Transl Med 13 (1), e1180 (2023)
   PUBMED   36639836
  REMARK    GeneRIF: Lysophosphatidylcholine inhibits lung cancer cell
            proliferation by regulating fatty acid metabolism enzyme long-chain
            acyl-coenzyme A synthase 5.
REFERENCE   2  (residues 1 to 683)
  AUTHORS   de Luis D, Izaola O, Primo D and Pacheco D.
  TITLE     The gene variant rs2419621 of ACYL-CoA synthetase long-chain 5 gene
            is associated with weight loss and metabolic changes in response to
            a robotic sleeve gastrectomy in morbid obese subjects
  JOURNAL   Eur Rev Med Pharmacol Sci 25 (22), 7037-7043 (2021)
   PUBMED   34859867
  REMARK    GeneRIF: The gene variant rs2419621 of ACYL-CoA synthetase
            long-chain 5 gene is associated with weight loss and metabolic
            changes in response to a robotic sleeve gastrectomy in morbid obese
            subjects.
REFERENCE   3  (residues 1 to 683)
  AUTHORS   Al-Thihli K, Afting C, Al-Hashmi N, Mohammed M, Sliwinski S, Al
            Shibli N, Al-Said K, Al-Kasbi G, Al-Kharusi K, Merle U, Fullekrug J
            and Al-Maawali A.
  TITLE     Deficiency of acyl-CoA synthetase 5 is associated with a severe and
            treatable failure to thrive of neonatal onset
  JOURNAL   Clin Genet 99 (3), 376-383 (2021)
   PUBMED   33191500
  REMARK    GeneRIF: Deficiency of acyl-CoA synthetase 5 is associated with a
            severe and treatable failure to thrive of neonatal onset.
REFERENCE   4  (residues 1 to 683)
  AUTHORS   Nakamura R, Misawa K, Tohnai G, Nakatochi M, Furuhashi S, Atsuta N,
            Hayashi N, Yokoi D, Watanabe H, Watanabe H, Katsuno M, Izumi Y,
            Kanai K, Hattori N, Morita M, Taniguchi A, Kano O, Oda M, Shibuya
            K, Kuwabara S, Suzuki N, Aoki M, Ohta Y, Yamashita T, Abe K,
            Hashimoto R, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Okada Y,
            Ishihara T, Onodera O, Nakashima K, Kaji R, Kamatani Y, Ikegawa S,
            Momozawa Y, Kubo M, Ishida N, Minegishi N, Nagasaki M and Sobue G.
  TITLE     A multi-ethnic meta-analysis identifies novel genes, including
            ACSL5, associated with amyotrophic lateral sclerosis
  JOURNAL   Commun Biol 3 (1), 526 (2020)
   PUBMED   32968195
  REMARK    GeneRIF: A multi-ethnic meta-analysis identifies novel genes,
            including ACSL5, associated with amyotrophic lateral sclerosis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 683)
  AUTHORS   Izaola Jauregui O, Lopez Gomez JJ, Primo Martin D, Torres Torres B,
            Gomez Hoyos E, Ortola Buigues A, Delgado E and de Luis Roman DA.
  TITLE     ACYL-CoA synthetase long-chain 5 polymorphism is associated with
            weight loss and metabolic changes in response to a partial
            meal-replacement hypocaloric diet
  JOURNAL   Nutr Hosp 37 (4), 757-762 (2020)
   PUBMED   32686444
  REMARK    GeneRIF: ACYL-CoA synthetase long-chain 5 polymorphism is
            associated with weight loss and metabolic changes in response to a
            partial meal-replacement hypocaloric diet.', trans 'El polimorfismo
            de la ACYL-CoA-sintetasa de cadena larga 5 se asocia a perdida de
            peso y cambios metabolicos en respuesta a una dieta hipocalorica
            parcial de reemplazo.
REFERENCE   6  (residues 1 to 683)
  AUTHORS   Lewin TM, Van Horn CG, Krisans SK and Coleman RA.
  TITLE     Rat liver acyl-CoA synthetase 4 is a peripheral-membrane protein
            located in two distinct subcellular organelles, peroxisomes, and
            mitochondrial-associated membrane
  JOURNAL   Arch Biochem Biophys 404 (2), 263-270 (2002)
   PUBMED   12147264
REFERENCE   7  (residues 1 to 683)
  AUTHORS   Minekura H, Kang MJ, Inagaki Y, Suzuki H, Sato H, Fujino T and
            Yamamoto TT.
  TITLE     Genomic organization and transcription units of the human acyl-CoA
            synthetase 3 gene
  JOURNAL   Gene 278 (1-2), 185-192 (2001)
   PUBMED   11707336
REFERENCE   8  (residues 1 to 683)
  AUTHORS   Lewin TM, Kim JH, Granger DA, Vance JE and Coleman RA.
  TITLE     Acyl-CoA synthetase isoforms 1, 4, and 5 are present in different
            subcellular membranes in rat liver and can be inhibited
            independently
  JOURNAL   J Biol Chem 276 (27), 24674-24679 (2001)
   PUBMED   11319232
REFERENCE   9  (residues 1 to 683)
  AUTHORS   Yamashita Y, Kumabe T, Cho YY, Watanabe M, Kawagishi J, Yoshimoto
            T, Fujino T, Kang MJ and Yamamoto TT.
  TITLE     Fatty acid induced glioma cell growth is mediated by the acyl-CoA
            synthetase 5 gene located on chromosome 10q25.1-q25.2, a region
            frequently deleted in malignant gliomas
  JOURNAL   Oncogene 19 (51), 5919-5925 (2000)
   PUBMED   11127823
REFERENCE   10 (residues 1 to 683)
  AUTHORS   Lehner R and Kuksis A.
  TITLE     Biosynthesis of triacylglycerols
  JOURNAL   Prog Lipid Res 35 (2), 169-201 (1996)
   PUBMED   8944226
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157786.13, AK000339.1,
            CF595490.1, AY358520.1 and AK024932.1.
            
            Summary: The protein encoded by this gene is an isozyme of the
            long-chain fatty-acid-coenzyme A ligase family. Although differing
            in substrate specificity, subcellular localization, and tissue
            distribution, all isozymes of this family convert free long-chain
            fatty acids into fatty acyl-CoA esters, and thereby play a key role
            in lipid biosynthesis and fatty acid degradation. This isozyme is
            highly expressed in uterus and spleen, and in trace amounts in
            normal brain, but has markedly increased levels in malignant
            gliomas. This gene functions in mediating fatty acid-induced glioma
            cell growth. Three transcript variants encoding two different
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding region compared to variant 1. This results in translation
            initiation from a downstream ATG and an isoform (b) that has a
            shorter N-terminus compared to isoform a. Both variants 2 and 3
            encode isoform b.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK000339.1, SRR1660803.91901.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354655.9/ ENSP00000346680.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..683
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.2"
     Protein         1..683
                     /product="long-chain-fatty-acid--CoA ligase 5 isoform b"
                     /EC_number="6.2.1.3"
                     /EC_number="6.2.1.15"
                     /note="long-chain acyl-CoA synthetase 5;
                     fatty-acid-Coenzyme A ligase, long-chain 5; FACL5 for
                     fatty acid coenzyme A ligase 5; long-chain fatty acid
                     coenzyme A ligase 5; long-chain-fatty-acid--CoA ligase 5;
                     LACS 5; arachidonate--CoA ligase"
                     /calculated_mol_wt=75860
     Site            12..32
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULC5.1)"
     Site            32
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q9ULC5.1)"
     Region          101..678
                     /region_name="LC-FACS_euk"
                     /note="Eukaryotic long-chain fatty acid CoA synthetase
                     (LC-FACS); cd05927"
                     /db_xref="CDD:341250"
     Site            order(258,261..266,268..269)
                     /site_type="other"
                     /note="acyl-activating enzyme (AAE) consensus motif"
                     /db_xref="CDD:341250"
     Site            order(261,378..379,441..446,525,537,540,552,658)
                     /site_type="other"
                     /note="putative AMP binding site [chemical binding]"
                     /db_xref="CDD:341250"
     Site            order(261,305..306,351,353..354,357,378..379,441..446,525,
                     537,540,549..552,635)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:341250"
     Site            order(305,353..354,357,378,549..551,633,635)
                     /site_type="other"
                     /note="putative CoA binding site [chemical binding]"
                     /db_xref="CDD:341250"
     Site            361
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8JZR0; propagated from
                     UniProtKB/Swiss-Prot (Q9ULC5.1)"
     CDS             1..683
                     /gene="ACSL5"
                     /gene_synonym="ACS2; ACS5; FACL5"
                     /coded_by="NM_203379.2:184..2235"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS7573.1"
                     /db_xref="GeneID:51703"
                     /db_xref="HGNC:HGNC:16526"
                     /db_xref="MIM:605677"
ORIGIN      
        1 mlfifnflfs plptpalici ltfgaaiflw litrpqpvlp lldlnnqsvg ieggarkgvs
       61 qknndltscc fsdaktmyev fqrglavsdn gpclgyrkpn qpyrwlsykq vsdraeylgs
      121 cllhkgykss pdqfvgifaq nrpewiisel acytysmvav plydtlgpea ivhivnkadi
      181 amvicdtpqk alvlignvek gftpslkvii lmdpfdddlk qrgeksgiei lslydaenlg
      241 kehfrkpvpp spedlsvicf tsgttgdpkg amithqnivs naaaflkcve hayeptpddv
      301 aisylplahm ferivqavvy scgarvgffq gdirlladdm ktlkptlfpa vprllnriyd
      361 kvqneaktpl kkfllklavs skfkelqkgi irhdsfwdkl ifakiqdslg grvrvivtga
      421 apmstsvmtf fraamgcqvy eaygqtectg gctftlpgdw tsghvgvpla cnyvkledva
      481 dmnyftvnne gevcikgtnv fkgylkdpek tqealdsdgw lhtgdigrwl pngtlkiidr
      541 kknifklaqg eyiapekien iynrsqpvlq ifvhgeslrs slvgvvvpdt dvlpsfaakl
      601 gvkgsfeelc qnqvvreail edlqkigkes glktfeqvka iflhpepfsi englltptlk
      661 akrgelskyf rtqidslyeh iqd
//
LOCUS       NP_115871               1537 aa            linear   PRI 12-FEB-2023
DEFINITION  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1
            [Homo sapiens].
ACCESSION   NP_115871
VERSION     NP_115871.1
DBSOURCE    REFSEQ: accession NM_032482.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1537)
  AUTHORS   Zhang Y, Wang Y, Valdivia A, Huang H and Matei D.
  TITLE     DOT1 L Regulates Ovarian Cancer Stem Cells by Activating
            beta-catenin Signaling
  JOURNAL   Mol Cancer Res 21 (2), 140-154 (2023)
   PUBMED   36318113
  REMARK    GeneRIF: DOT1 L Regulates Ovarian Cancer Stem Cells by Activating
            beta-catenin Signaling.
REFERENCE   2  (residues 1 to 1537)
  AUTHORS   Van Heesbeen HJ, Von Oerthel L, De Vries PM, Wagemans CMRJ and
            Smidt MP.
  TITLE     Neuronal Dot1l Activity Acts as a Mitochondrial Gene-Repressor
            Associated with Human Brain Aging via H3K79 Hypermethylation
  JOURNAL   Int J Mol Sci 24 (2), 1387 (2023)
   PUBMED   36674903
  REMARK    GeneRIF: Neuronal Dot1l Activity Acts as a Mitochondrial
            Gene-Repressor Associated with Human Brain Aging via H3K79
            Hypermethylation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1537)
  AUTHORS   Yang YB, Wu CY, Wang XY, Deng J, Cao WJ, Tang YZ, Wan CC, Chen ZT,
            Zhan WY, Shan H, Kuang DM and Wei Y.
  TITLE     Targeting inflammatory macrophages rebuilds therapeutic efficacy of
            DOT1L inhibition in hepatocellular carcinoma
  JOURNAL   Mol Ther 31 (1), 105-118 (2023)
   PUBMED   36183166
  REMARK    GeneRIF: Targeting inflammatory macrophages rebuilds therapeutic
            efficacy of DOT1L inhibition in hepatocellular carcinoma.
REFERENCE   4  (residues 1 to 1537)
  AUTHORS   Neeli PK, Sahoo S, Karnewar S, Singuru G, Pulipaka S, Annamaneni S
            and Kotamraju S.
  TITLE     DOT1L regulates MTDH-mediated angiogenesis in triple-negative
            breast cancer: intermediacy of NF-kappaB-HIF1alpha axis
  JOURNAL   FEBS J 290 (2), 502-520 (2023)
   PUBMED   36017623
  REMARK    GeneRIF: DOT1L regulates MTDH-mediated angiogenesis in
            triple-negative breast cancer: intermediacy of NF-kappaB-HIF1alpha
            axis.
REFERENCE   5  (residues 1 to 1537)
  AUTHORS   Willemsen L, Prange KHM, Neele AE, van Roomen CPAA, Gijbels M,
            Griffith GR, Toom MD, Beckers L, Siebeler R, Spann NJ, Chen HJ,
            Bosmans LA, Gorbatenko A, van Wouw S, Zelcer N, Jacobs H, van
            Leeuwen F and de Winther MPJ.
  TITLE     DOT1L regulates lipid biosynthesis and inflammatory responses in
            macrophages and promotes atherosclerotic plaque stability
  JOURNAL   Cell Rep 41 (8), 111703 (2022)
   PUBMED   36417856
  REMARK    GeneRIF: DOT1L regulates lipid biosynthesis and inflammatory
            responses in macrophages and promotes atherosclerotic plaque
            stability.
REFERENCE   6  (residues 1 to 1537)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   7  (residues 1 to 1537)
  AUTHORS   Okada Y, Feng Q, Lin Y, Jiang Q, Li Y, Coffield VM, Su L, Xu G and
            Zhang Y.
  TITLE     hDOT1L links histone methylation to leukemogenesis
  JOURNAL   Cell 121 (2), 167-178 (2005)
   PUBMED   15851025
  REMARK    GeneRIF: mistargeting of hDOT1L to Hoxa9 plays an important role in
            MLL-AF10-mediated leukemogenesis
            Erratum:[Cell. 2005 Jun 3;121(5):809]
REFERENCE   8  (residues 1 to 1537)
  AUTHORS   Min J, Feng Q, Li Z, Zhang Y and Xu RM.
  TITLE     Structure of the catalytic domain of human DOT1L, a non-SET domain
            nucleosomal histone methyltransferase
  JOURNAL   Cell 112 (5), 711-723 (2003)
   PUBMED   12628190
REFERENCE   9  (residues 1 to 1537)
  AUTHORS   Jikuya H, Takano J, Kikuno R, Hirosawa M, Nagase T, Nomura N and
            Ohara O.
  TITLE     Characterization of long cDNA clones from human adult spleen. II.
            The complete sequences of 81 cDNA clones
  JOURNAL   DNA Res 10 (1), 49-57 (2003)
   PUBMED   12693554
REFERENCE   10 (residues 1 to 1537)
  AUTHORS   Feng Q, Wang H, Ng HH, Erdjument-Bromage H, Tempst P, Struhl K and
            Zhang Y.
  TITLE     Methylation of H3-lysine 79 is mediated by a new family of HMTases
            without a SET domain
  JOURNAL   Curr Biol 12 (12), 1052-1058 (2002)
   PUBMED   12123582
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005257.1, AF509504.1,
            AC005263.1 and AL080221.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a histone
            methyltransferase that methylates lysine-79 of histone H3. It is
            inactive against free core histones, but shows significant histone
            methyltransferase activity against nucleosomes. [provided by
            RefSeq, Aug 2011].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF509504.1, KX792913.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000398665.8/ ENSP00000381657.3
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1537
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..1537
                     /product="histone-lysine N-methyltransferase, H3 lysine-79
                     specific isoform 1"
                     /EC_number="2.1.1.360"
                     /note="histone methyltransferase DOT1L; histone-lysine
                     N-methyltransferase, H3 lysine-79 specific; H3-K79-HMTase;
                     DOT1-like protein; lysine N-methyltransferase 4; histone
                     H3-K79 methyltransferase; DOT1-like, histone H3
                     methyltransferase; DOT1 like histone H3K79
                     methyltransferase; DOT1-like histone methyltransferase"
                     /calculated_mol_wt=164726
     Region          115..317
                     /region_name="DOT1"
                     /note="Histone methylation protein DOT1; pfam08123"
                     /db_xref="CDD:149273"
     Site            order(162..168,186..187,221..223,241)
                     /site_type="other"
                     /note="S-adenosylmethionine binding site [chemical
                     binding]"
                     /db_xref="CDD:100107"
     Region          483..547
                     /region_name="CC_DOT1L"
                     /note="coiled coil domain of disruptor of
                     telomeric-silencing 1-like (DOT1L) and similar proteins;
                     cd20902"
                     /db_xref="CDD:411016"
     Site            order(495,499,507..508,511..512,514..515,518..519,
                     521..522,525..526,529,532..533,536,539..540,543,546..547)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:411016"
     Region          <506..>661
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     Region          775..>1124
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     CDS             1..1537
                     /gene="DOT1L"
                     /gene_synonym="DOT1; KMT4"
                     /coded_by="NM_032482.3:253..4866"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS42460.1"
                     /db_xref="GeneID:84444"
                     /db_xref="HGNC:HGNC:24948"
                     /db_xref="MIM:607375"
ORIGIN      
        1 mgeklelrlk spvgaepavy pwplpvydkh hdaaheiiet irwvceeipd lklamenyvl
       61 idydtksfes mqrlcdkynr aidsihqlwk gttqpmklnt rpstgllrhi lqqvynhsvt
      121 dpeklnnyep fspevygets fdlvaqmide ikmtdddlfv dlgsgvgqvv lqvaaatnck
      181 hhygvekadi pakyaetmdr efrkwmkwyg kkhaeytler gdflseewre riantsvifv
      241 nnfafgpevd hqlkerfanm keggrivssk pfaplnfrin srnlsdigti mrvvelsplk
      301 gsvswtgkpv syylhtidrt ilenyfsslk npklreeqea arrrqqresk snaatptkgp
      361 egkvagpada pmdsgaeeek agaatvkkps pskarkkkln kkgrkmagrk rgrpkkmnta
      421 nperkpkknq taldalhaqt vsqtaasspq dayrsphspf yqlppsvqrh spnpllvapt
      481 ppalqklles fkiqylqfla ytktpqykas lqellgqeke knaqllgaaq qllshcqaqk
      541 eeirrlfqqk ldelgvkalt yndliqaqke isahnqqlre qseqleqdnr alrgqslqll
      601 karceelqld watlslekll kekqalksqi sekqrhclel qisiveleks qrqqellqlk
      661 scvppddals lhlrgkgalg relepdasrl hleldctkfs lphlssmspe lsmngqaagy
      721 elcgvlsrps skqntpqyla spldqevvpc tpshvgrprl eklsglaapd ytrlspakiv
      781 lrrhlsqdht vpgrpaasel hsraehtken glpyqspsvp gsmklspqdp rplspgalql
      841 agekssekgl reraygssge litslpisip lstvqpnklp vsiplasvvl psraerarst
      901 pspvlqprdp sstlekqiga nahgagsrsl alapagfsya gsvaisgala gspasltpga
      961 epatldesss sgslfatvgs rsstpqhpll laqprnslpa spahqlsssp rlggaaqgpl
     1021 peaskgdlps dsgfsdpese akrrivftit tgagsakqsp sskhspltas argdcvpshg
     1081 qdsrrrgrrk rasagtpsls agvspkrral psvaglftqp sgsplnlnsm vsninqplei
     1141 taisspetsl ksspvpyqdh dqppvlkker plsqtngahy spltsdeepg sedepssari
     1201 erkiatisle sksppktlen ggglagrkpa pagepvnssk wkstfspisd iglaksadsp
     1261 lqassalsqn slftfrpale epsadaklaa hprkgfpgsl sgadglspgt npangctfgg
     1321 glaadlslhs fsdgaslphk gpeaaglssp lsfpsqrgke gsdanpflsk rqldglaglk
     1381 gegsrgkeag egglplcgpt dktpllsgka akardrevdl knghnlfisa aavppgslls
     1441 gpglapaass aggaassaqt hrsflgpfpp gpqfalgpms lqanlgsvag ssvlqslfss
     1501 vpaaaglvhv ssaatrltns hamgsfsgva ggtvggn
//
LOCUS       NP_077734                749 aa            linear   PRI 26-FEB-2023
DEFINITION  cytosolic phospholipase A2 isoform 1 [Homo sapiens].
ACCESSION   NP_077734
VERSION     NP_077734.2
DBSOURCE    REFSEQ: accession NM_024420.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 749)
  AUTHORS   Ren M, Li L, Jia J and Wei B.
  TITLE     Association between PLA2G4A and P2RX7 genes and eosinophilic
            phenotype and environment with pediatric asthma
  JOURNAL   Gene 857, 147182 (2023)
   PUBMED   36623677
  REMARK    GeneRIF: Association between PLA2G4A and P2RX7 genes and
            eosinophilic phenotype and environment with pediatric asthma.
REFERENCE   2  (residues 1 to 749)
  AUTHORS   Wang S, Li B, Solomon V, Fonteh A, Rapoport SI, Bennett DA,
            Arvanitakis Z, Chui HC, Sullivan PM and Yassine HN.
  TITLE     Calcium-dependent cytosolic phospholipase A2 activation is
            implicated in neuroinflammation and oxidative stress associated
            with ApoE4
  JOURNAL   Mol Neurodegener 17 (1), 42 (2022)
   PUBMED   35705959
  REMARK    GeneRIF: Calcium-dependent cytosolic phospholipase A2 activation is
            implicated in neuroinflammation and oxidative stress associated
            with ApoE4.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 749)
  AUTHORS   Dessen A, Tang J, Schmidt H, Stahl M, Clark JD, Seehra J and Somers
            WS.
  TITLE     Crystal structure of human cytosolic phospholipase A2 reveals a
            novel topology and catalytic mechanism
  JOURNAL   Cell 97 (3), 349-360 (1999)
   PUBMED   10319815
REFERENCE   4  (residues 1 to 749)
  AUTHORS   Tay A, Simon JS, Squire J, Hamel K, Jacob HJ and Skorecki K.
  TITLE     Cytosolic phospholipase A2 gene in human and rat: chromosomal
            localization and polymorphic markers
  JOURNAL   Genomics 26 (1), 138-141 (1995)
   PUBMED   7782073
REFERENCE   5  (residues 1 to 749)
  AUTHORS   Miyashita A, Crystal RG and Hay JG.
  TITLE     Identification of a 27 bp 5'-flanking region element responsible
            for the low level constitutive expression of the human cytosolic
            phospholipase A2 gene
  JOURNAL   Nucleic Acids Res 23 (2), 293-301 (1995)
   PUBMED   7862535
REFERENCE   6  (residues 1 to 749)
  AUTHORS   Wu T, Ikezono T, Angus CW and Shelhamer JH.
  TITLE     Characterization of the promoter for the human 85 kDa cytosolic
            phospholipase A2 gene
  JOURNAL   Nucleic Acids Res 22 (23), 5093-5098 (1994)
   PUBMED   7800505
REFERENCE   7  (residues 1 to 749)
  AUTHORS   Sharp JD, Pickard RT, Chiou XG, Manetta JV, Kovacevic S, Miller JR,
            Varshavsky AD, Roberts EF, Strifler BA, Brems DN et al.
  TITLE     Serine 228 is essential for catalytic activities of 85-kDa
            cytosolic phospholipase A2
  JOURNAL   J Biol Chem 269 (37), 23250-23254 (1994)
   PUBMED   8083230
REFERENCE   8  (residues 1 to 749)
  AUTHORS   Lin LL, Wartmann M, Lin AY, Knopf JL, Seth A and Davis RJ.
  TITLE     cPLA2 is phosphorylated and activated by MAP kinase
  JOURNAL   Cell 72 (2), 269-278 (1993)
   PUBMED   8381049
REFERENCE   9  (residues 1 to 749)
  AUTHORS   Sharp JD, White DL, Chiou XG, Goodson T, Gamboa GC, McClure D,
            Burgett S, Hoskins J, Skatrud PL, Sportsman JR et al.
  TITLE     Molecular cloning and expression of human Ca(2+)-sensitive
            cytosolic phospholipase A2
  JOURNAL   J Biol Chem 266 (23), 14850-14853 (1991)
   PUBMED   1869522
REFERENCE   10 (residues 1 to 749)
  AUTHORS   Clark JD, Lin LL, Kriz RW, Ramesha CS, Sultzman LA, Lin AY, Milona
            N and Knopf JL.
  TITLE     A novel arachidonic acid-selective cytosolic PLA2 contains a
            Ca(2+)-dependent translocation domain with homology to PKC and GAP
  JOURNAL   Cell 65 (6), 1043-1051 (1991)
   PUBMED   1904318
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA451491.1, BC114340.2,
            AL049797.8, M72393.1 and BX118890.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 25, 2020 this sequence version replaced NP_077734.1.
            
            Summary: This gene encodes a member of the cytosolic phospholipase
            A2 group IV family. The enzyme catalyzes the hydrolysis of membrane
            phospholipids to release arachidonic acid which is subsequently
            metabolized into eicosanoids. Eicosanoids, including prostaglandins
            and leukotrienes, are lipid-based cellular hormones that regulate
            hemodynamics, inflammatory responses, and other intracellular
            pathways. The hydrolysis reaction also produces lysophospholipids
            that are converted into platelet-activating factor. The enzyme is
            activated by increased intracellular Ca(2+) levels and
            phosphorylation, resulting in its translocation from the cytosol
            and nucleus to perinuclear membrane vesicles. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jul
            2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK290336.1, M68874.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367466.4/ ENSP00000356436.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..749
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.1"
     Protein         1..749
                     /product="cytosolic phospholipase A2 isoform 1"
                     /EC_number="3.1.1.5"
                     /EC_number="3.1.1.4"
                     /note="calcium-dependent phospholipid-binding protein;
                     phosphatidylcholine 2-acylhydrolase; lysophospholipase;
                     cytosolic phospholipase A2; phospholipase A2, group IVA
                     (cytosolic, calcium-dependent)"
                     /calculated_mol_wt=85108
     Region          1..178
                     /region_name="Phospholipid binding. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (P47712.2)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P47712.2)"
     Region          20..138
                     /region_name="C2_cPLA2"
                     /note="C2 domain present in cytosolic PhosphoLipase A2
                     (cPLA2); cd04036"
                     /db_xref="CDD:176001"
     Site            order(40,43,65,93,95)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176001"
     Region          144..730
                     /region_name="cPLA2_Grp-IVA"
                     /note="Group IVA cytosolic phospholipase A2; catalytic
                     domain; Ca-dependent; cd07200"
                     /db_xref="CDD:132839"
     Site            order(197..198,200,228,549)
                     /site_type="active"
                     /db_xref="CDD:132839"
     Site            226..230
                     /site_type="other"
                     /note="nucleophile elbow"
                     /db_xref="CDD:132839"
     Site            268
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P47712.2)"
     Site            order(403,486)
                     /site_type="other"
                     /note="flexible lid region"
                     /db_xref="CDD:132839"
     Region          409..457
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P47712.2)"
     Site            434
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P50393; propagated from
                     UniProtKB/Swiss-Prot (P47712.2)"
     Site            435
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P47712.2)"
     Site            437
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P47712.2)"
     Site            505
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK.
                     /evidence=ECO:0000269|PubMed:8381049,
                     ECO:0000269|PubMed:9468497; propagated from
                     UniProtKB/Swiss-Prot (P47712.2)"
     Site            515
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P50393; propagated from
                     UniProtKB/Swiss-Prot (P47712.2)"
     Site            727
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:9468497,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P47712.2)"
     Site            729
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P47712.2)"
     CDS             1..749
                     /gene="PLA2G4A"
                     /gene_synonym="cPLA2; cPLA2-alpha; GURDP; PLA2G4"
                     /coded_by="NM_024420.3:157..2406"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1372.1"
                     /db_xref="GeneID:5321"
                     /db_xref="HGNC:HGNC:9035"
                     /db_xref="MIM:600522"
ORIGIN      
        1 msfidpyqhi ivehqyshkf tvvvlratkv tkgafgdmld tpdpyvelfi sttpdsrkrt
       61 rhfnndinpv wnetfefild pnqenvleit lmdanyvmde tlgtatftvs smkvgekkev
      121 pfifnqvtem vlemslevcs cpdlrfsmal cdqektfrqq rkehiresmk kllgpknseg
      181 lhsardvpvv ailgsgggfr amvgfsgvmk alyesgildc atyvaglsgs twymstlysh
      241 pdfpekgpee ineelmknvs hnplllltpq kvkryveslw kkkssgqpvt ftdifgmlig
      301 etlihnrmnt tlsslkekvn taqcplplft clhvkpdvse lmfadwvefs pyeigmakyg
      361 tfmapdlfgs kffmgtvvkk yeenplhflm gvwgsafsil fnrvlgvsgs qsrgstmeee
      421 lenittkhiv sndssdsdde shepkgtene dagsdyqsdn qaswihrmim alvsdsalfn
      481 tregragkvh nfmlglnlnt syplsplsdf atqdsfddde ldaavadpde feriyepldv
      541 kskkihvvds gltfnlpypl ilrpqrgvdl iisfdfsarp sdssppfkel llaekwakmn
      601 klpfpkidpy vfdreglkec yvfkpknpdm ekdcptiihf vlaninfrky rapgvprete
      661 eekeiadfdi fddpespfst fnfqypnqaf krlhdlmhfn tlnnidvike amvesieyrr
      721 qnpsrcsvsl snvearrffn keflskpka
//
LOCUS       NP_001159392             491 aa            linear   PRI 05-MAR-2023
DEFINITION  alpha-2-antiplasmin isoform a precursor [Homo sapiens].
ACCESSION   NP_001159392
VERSION     NP_001159392.1
DBSOURCE    REFSEQ: accession NM_001165920.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 491)
  AUTHORS   Pechlivani N, Kearney KJ and Ajjan RA.
  TITLE     Fibrinogen and Antifibrinolytic Proteins: Interactions and Future
            Therapeutics
  JOURNAL   Int J Mol Sci 22 (22), 12537 (2021)
   PUBMED   34830419
  REMARK    GeneRIF: Fibrinogen and Antifibrinolytic Proteins: Interactions and
            Future Therapeutics.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 491)
  AUTHORS   Niwa H, Kanno Y, Shu E and Seishima M.
  TITLE     Decrease in matrix metalloproteinase-3 activity in systemic
            sclerosis fibroblasts causes alpha2-antiplasmin and extracellular
            matrix deposition, and contributes to fibrosis development
  JOURNAL   Mol Med Rep 22 (4), 3001-3007 (2020)
   PUBMED   32945390
  REMARK    GeneRIF: Decrease in matrix metalloproteinase3 activity in systemic
            sclerosis fibroblasts causes alpha2antiplasmin and extracellular
            matrix deposition, and contributes to fibrosis development.
REFERENCE   3  (residues 1 to 491)
  AUTHORS   Bryk AH, Satala D, Natorska J, Rapala-Kozik M and Undas A.
  TITLE     Interaction of glycated and acetylated human alpha2-antiplasmin
            with fibrin clots
  JOURNAL   Blood Coagul Fibrinolysis 31 (6), 393-396 (2020)
   PUBMED   32815915
  REMARK    GeneRIF: Interaction of glycated and acetylated human
            alpha2-antiplasmin with fibrin clots.
REFERENCE   4  (residues 1 to 491)
  AUTHORS   Bryk AH, Cysewski D, Dadlez M and Undas A.
  TITLE     Identification of glycated and acetylated lysine residues in human
            alpha2-antiplasmin
  JOURNAL   Biochem Biophys Res Commun 521 (1), 19-23 (2020)
   PUBMED   31653347
  REMARK    GeneRIF: human alpha2-antiplasmin is glycated and acetylated at
            several sites, with the possible competition between acetylation
            and glycation at K-182 and K-448; finding suggests possibly
            relevant alterations to alpha2-antiplasmin function at high
            glycemia and during aspirin use
REFERENCE   5  (residues 1 to 491)
  AUTHORS   Bangert K, Johnsen AH, Christensen U and Thorsen S.
  TITLE     Different N-terminal forms of alpha 2-plasmin inhibitor in human
            plasma
  JOURNAL   Biochem J 291 (Pt 2) (Pt 2), 623-625 (1993)
   PUBMED   8484741
REFERENCE   6  (residues 1 to 491)
  AUTHORS   Hirosawa S, Nakamura Y, Miura O, Sumi Y and Aoki N.
  TITLE     Organization of the human alpha 2-plasmin inhibitor gene
  JOURNAL   Proc Natl Acad Sci U S A 85 (18), 6836-6840 (1988)
   PUBMED   3166140
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1989 Mar;86(5):1612-13]
REFERENCE   7  (residues 1 to 491)
  AUTHORS   Lijnen,H.R., Holmes,W.E., van Hoef,B., Wiman,B., Rodriguez,H. and
            Collen,D.
  TITLE     Amino-acid sequence of human alpha 2-antiplasmin
  JOURNAL   Eur J Biochem 166 (3), 565-574 (1987)
   PUBMED   2440681
REFERENCE   8  (residues 1 to 491)
  AUTHORS   Wiman,B. and Collen,D.
  TITLE     On the mechanism of the reaction between human alpha 2-antiplasmin
            and plasmin
  JOURNAL   J Biol Chem 254 (18), 9291-9297 (1979)
   PUBMED   158022
REFERENCE   9  (residues 1 to 491)
  AUTHORS   Wiman,B. and Collen,D.
  TITLE     Purification and characterization of human antiplasmin, the
            fast-acting plasmin inhibitor in plasma
  JOURNAL   Eur J Biochem 78 (1), 19-26 (1977)
   PUBMED   21075
REFERENCE   10 (residues 1 to 491)
  AUTHORS   Moroi,M. and Aoki,N.
  TITLE     Isolation and characterization of alpha2-plasmin inhibitor from
            human plasma. A novel proteinase inhibitor which inhibits
            activator-induced clot lysis
  JOURNAL   J Biol Chem 251 (19), 5956-5965 (1976)
   PUBMED   134998
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC031592.1, D00174.1 and
            AL564784.3.
            
            Summary: This gene encodes a member of the serpin family of serine
            protease inhibitors. The protein is a major inhibitor of plasmin,
            which degrades fibrin and various other proteins. Consequently, the
            proper function of this gene has a major role in regulating the
            blood clotting pathway. Mutations in this gene result in
            alpha-2-plasmin inhibitor deficiency, which is characterized by
            severe hemorrhagic diathesis. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Sep 2009].
            
            Transcript Variant: This variant (2) represents use of an alternate
            promoter and 5' UTR, compared to variant 1. Both variants 1 and 2
            encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC031592.1, SRR9304715.233101.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145122
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
                                                with N-terminal localization
                                                signal (PMID:8484741)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..491
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     Protein         1..491
                     /product="alpha-2-antiplasmin isoform a precursor"
                     /note="alpha-2-plasmin inhibitor; serine (or cysteine)
                     proteinase inhibitor, clade F (alpha-2 antiplasmin,
                     pigment epithelium derived factor), member 2; serpin F2;
                     alpha-2-AP; serpin peptidase inhibitor, clade F (alpha-2
                     antiplasmin, pigment epithelium derived factor), member 2"
                     /calculated_mol_wt=51719
     sig_peptide     1..27
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2865
     mat_peptide     28..491
                     /product="alpha-2-antiplasmin isoform a"
                     /calculated_mol_wt=51719
     Site            39..40
                     /site_type="cleavage"
                     /note="Cleavage, by prolyl endopeptidase FAP,
                     antiplasmin-cleaving enzyme FAP soluble form.
                     /evidence=ECO:0000269|PubMed:14751930,
                     ECO:0000269|PubMed:16223769; propagated from
                     UniProtKB/Swiss-Prot (P08697.3)"
     Region          55..76
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P08697.3)"
     Region          75..438
                     /region_name="serpinF2_A2AP"
                     /note="serpin family F member 2, alpha2-antiplasmin
                     inhibitor; cd02053"
                     /db_xref="CDD:381009"
     Site            126
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P08697.3)"
     Site            295
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P08697.3)"
     Site            309
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P08697.3)"
     Site            316
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P08697.3)"
     Site            order(390..403,405..414)
                     /site_type="other"
                     /note="reactive center loop (RCL)"
                     /db_xref="CDD:381009"
     Site            403..404
                     /site_type="other"
                     /note="Reactive bond for plasmin; propagated from
                     UniProtKB/Swiss-Prot (P08697.3)"
     Site            404..405
                     /site_type="other"
                     /note="Reactive bond for chymotrypsin; propagated from
                     UniProtKB/Swiss-Prot (P08697.3)"
     Region          437..491
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P08697.3)"
     Site            484
                     /site_type="sulfatation"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:2434496; propagated from
                     UniProtKB/Swiss-Prot (P08697.3)"
     CDS             1..491
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /coded_by="NM_001165920.1:56..1531"
                     /note="isoform a precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS11011.1"
                     /db_xref="GeneID:5345"
                     /db_xref="HGNC:HGNC:9075"
                     /db_xref="MIM:613168"
ORIGIN      
        1 mallwgllvl swsclqgpcs vfspvsamep lgrqltsgpn qeqvspltll klgnqepggq
       61 talksppgvc srdptpeqth rlarammaft adlfslvaqt stcpnlilsp lsvalalshl
      121 algaqnhtlq rlqqvlhags gpclphllsr lcqdlgpgaf rlaarmylqk gfpikedfle
      181 qseqlfgakp vsltgkqedd laninqwvke ategkiqefl sglpedtvll llnaihfqgf
      241 wrnkfdpslt qrdsfhldeq ftvpvemmqa rtyplrwfll eqpeiqvahf pfknnmsfvv
      301 lvpthfewnv sqvlanlswd tlhpplvwer ptkvrlpkly lkhqmdlvat lsqlglqelf
      361 qapdlrgise qslvvsgvqh qstlelsevg veaaaatsia msrmslssfs vnrpflffif
      421 edttglplfv gsvrnpnpsa prelkeqqds pgnkdflqsl kgfprgdklf gpdlklvppm
      481 eedypqfgsp k
//
LOCUS       NP_068602                684 aa            linear   PRI 12-MAR-2023
DEFINITION  twinkle mtDNA helicase isoform A [Homo sapiens].
ACCESSION   NP_068602
VERSION     NP_068602.2
DBSOURCE    REFSEQ: accession NM_021830.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 684)
  AUTHORS   Johnson LC, Singh A and Patel SS.
  TITLE     The N-terminal domain of human mitochondrial helicase Twinkle has
            DNA-binding activity crucial for supporting processive DNA
            synthesis by polymerase gamma
  JOURNAL   J Biol Chem 299 (1), 102797 (2023)
   PUBMED   36528058
  REMARK    GeneRIF: The N-terminal domain of human mitochondrial helicase
            Twinkle has DNA-binding activity crucial for supporting processive
            DNA synthesis by polymerase gamma.
REFERENCE   2  (residues 1 to 684)
  AUTHORS   Riccio AA, Bouvette J, Perera L, Longley MJ, Krahn JM, Williams JG,
            Dutcher R, Borgnia MJ and Copeland WC.
  TITLE     Structural insight and characterization of human Twinkle helicase
            in mitochondrial disease
  JOURNAL   Proc Natl Acad Sci U S A 119 (32), e2207459119 (2022)
   PUBMED   35914129
  REMARK    GeneRIF: Structural insight and characterization of human Twinkle
            helicase in mitochondrial disease.
REFERENCE   3  (residues 1 to 684)
  AUTHORS   Rodrigues APC and Oliveira MT.
  TITLE     Stimulation of Variant Forms of the Mitochondrial DNA Helicase
            Twinkle by the Mitochondrial Single-Stranded DNA-Binding Protein
  JOURNAL   Methods Mol Biol 2281, 313-322 (2021)
   PUBMED   33847968
  REMARK    GeneRIF: Stimulation of Variant Forms of the Mitochondrial DNA
            Helicase Twinkle by the Mitochondrial Single-Stranded DNA-Binding
            Protein.
REFERENCE   4  (residues 1 to 684)
  AUTHORS   Kierdaszuk B, Kaliszewska M, Rusecka J, Kosinska J, Bartnik E,
            Tonska K, Kaminska AM and Kostera-Pruszczyk A.
  TITLE     Progressive External Ophthalmoplegia in Polish Patients-From
            Clinical Evaluation to Genetic Confirmation
  JOURNAL   Genes (Basel) 12 (1), 54 (2020)
   PUBMED   33396418
  REMARK    GeneRIF: Progressive External Ophthalmoplegia in Polish
            Patients-From Clinical Evaluation to Genetic Confirmation.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 684)
  AUTHORS   Nikali K, Isosomppi J, Lonnqvist T, Mao JI, Suomalainen A and
            Peltonen L.
  TITLE     Toward cloning of a novel ataxia gene: refined assignment and
            physical map of the IOSCA locus (SCA8) on 10q24
  JOURNAL   Genomics 39 (2), 185-191 (1997)
   PUBMED   9027505
REFERENCE   6  (residues 1 to 684)
  AUTHORS   Nikali K, Suomalainen A, Terwilliger J, Koskinen T, Weissenbach J
            and Peltonen L.
  TITLE     Random search for shared chromosomal regions in four affected
            individuals: the assignment of a new hereditary ataxia locus
  JOURNAL   Am J Hum Genet 56 (5), 1088-1095 (1995)
   PUBMED   7726163
REFERENCE   7  (residues 1 to 684)
  AUTHORS   Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M,
            Weissenbach J, Zeviani M, Somer H and Peltonen L.
  TITLE     An autosomal locus predisposing to deletions of mitochondrial DNA
  JOURNAL   Nat Genet 9 (2), 146-151 (1995)
   PUBMED   7719341
REFERENCE   8  (residues 1 to 684)
  AUTHORS   Newman,W.G., Friedman,T.B., Conway,G.S. and Demain,L.A.M.
  TITLE     Perrault Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   25254289
REFERENCE   9  (residues 1 to 684)
  AUTHORS   Lonnqvist,T.
  TITLE     Infantile-Onset Spinocerebellar Ataxia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301746
REFERENCE   10 (residues 1 to 684)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB090322.1, AF292004.1,
            AK025485.1 and AL133215.17.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 11, 2003 this sequence version replaced NP_068602.1.
            
            Summary: This gene encodes a hexameric DNA helicase which unwinds
            short stretches of double-stranded DNA in the 5' to 3' direction
            and, along with mitochondrial single-stranded DNA binding protein
            and mtDNA polymerase gamma, is thought to play a key role in mtDNA
            replication. The protein localizes to the mitochondrial matrix and
            mitochondrial nucleoids. Mutations in this gene cause infantile
            onset spinocerebellar ataxia (IOSCA) and progressive external
            ophthalmoplegia (PEO) and are also associated with several
            mitochondrial depletion syndromes. Alternative splicing results in
            multiple transcript variants encoding distinct isoforms.[provided
            by RefSeq, Aug 2009].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (A; also known as Twinkle).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.153796.1,
                                           SRR1660807.228176.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000311916.8/
                                                  ENSP00000309595.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..684
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     Protein         1..684
                     /product="twinkle mtDNA helicase isoform A"
                     /EC_number="3.6.4.12"
                     /note="progressive external ophthalmoplegia 1 protein;
                     twinkle protein, mitochondrial; T7-like mitochondrial DNA
                     helicase; T7 gp4-like protein with intramitochondrial
                     nucleoid localization; ataxin 8; T7 helicase-related
                     protein with intramitochondrial nucleoid localization"
                     /calculated_mol_wt=77023
     Region          1..121
                     /region_name="Contributes to single strand DNA binding
                     activity. /evidence=ECO:0000269|PubMed:18039713"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RR1.1)"
     Region          121..372
                     /region_name="Required for hexamers formation and DNA
                     helicase activity. /evidence=ECO:0000269|PubMed:18039713"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RR1.1)"
     Region          259..335
                     /region_name="TOPRIM_primases"
                     /note="The topoisomerase-primase (TOPRIM) nucleotidyl
                     transferase/hydrolase domain found in the active site
                     regions of bacterial DnaG-type primases and their
                     homologs. Primases synthesize RNA primers for the
                     initiation of DNA replication. DnaG type primases are...;
                     cd01029"
                     /db_xref="CDD:173779"
     Site            order(264..265,268,309,311,313)
                     /site_type="active"
                     /db_xref="CDD:173779"
     Site            order(264,309)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:173779"
     Site            order(266..267,273..274,285)
                     /site_type="other"
                     /note="interdomain interaction site"
                     /db_xref="CDD:173779"
     Region          366..629
                     /region_name="Twinkle_C"
                     /note="C-terminal domain of Twinkle; cd01122"
                     /db_xref="CDD:410867"
     Region          405..590
                     /region_name="Maybe required for stable oligomeric
                     structure. /evidence=ECO:0000269|PubMed:17324440"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RR1.1)"
     Site            order(417..423,426,445,516,558,591,599,621)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:410867"
     Region          637..684
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RR1.1)"
     Region          640..684
                     /region_name="Might negatively regulate ATPase activity.
                     /evidence=ECO:0000269|PubMed:17324440"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RR1.1)"
     CDS             1..684
                     /gene="TWNK"
                     /gene_synonym="ATXN8; C10orf2; IOSCA; MTDPS7; PEO; PEO1;
                     PEOA3; PRLTS5; SANDO; SCA8; TWINL"
                     /coded_by="NM_021830.5:669..2723"
                     /note="isoform A is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7506.1"
                     /db_xref="GeneID:56652"
                     /db_xref="HGNC:HGNC:1160"
                     /db_xref="MIM:606075"
ORIGIN      
        1 mwvllrsgyp lrillplrge wmgrrglprn lapgpprrry rketlqaldm pvlpvtatei
       61 rqylrghgip fqdghsclra lspfaessql kgqtgvttsf slfidkttgh flcmtslaeg
      121 swedfqasve grgdgaregf llskapefed seevrriwnr aiplwelpdq eevqladtmf
      181 gltkvtddtl krfsvrylrp arslvfpwfs pggsglrglk lleakcqgdg vsyeettipr
      241 psayhnlfgl plisrrdaev vltsreldsl alnqstglpt ltlprgttcl ppallpyleq
      301 frrivfwlgd dlrsweaakl farklnpkrc flvrpgdqqp rplealnggf nlsrilrtal
      361 pawhksivsf rqlreevlge lsnveqaagl rwsrfpdlnr ilkghrkgel tvftgptgsg
      421 kttfiseyal dlcsqgvntl wgsfeisnvr larvmltqfa egrledqldk ydhwadrfed
      481 lplyfmtfhg qqsirtvidt mqhavyvydi chviidnlqf mmgheqlstd riaaqdyiig
      541 vfrkfatdnn chvtlvihpr kedddkelqt asifgsakas qeadnvlilq drklvtgpgk
      601 rylqvsknrf dgdvgvfple fnknsltfsi ppknkarlkk ikddtgpvak kpssgkkgat
      661 tqnseicsgq aptpdqpdts krsk
//
LOCUS       NP_001132915             604 aa            linear   PRI 15-MAR-2023
DEFINITION  bestrophin-1 isoform 2 [Homo sapiens].
ACCESSION   NP_001132915
VERSION     NP_001132915.1
DBSOURCE    REFSEQ: accession NM_001139443.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 604)
  AUTHORS   Cideciyan AV, Jacobson SG, Sumaroka A, Swider M, Krishnan AK,
            Sheplock R, Garafalo AV, Guziewicz KE, Aguirre GD, Beltran WA,
            Matsui Y, Kondo M and Heon E.
  TITLE     Photoreceptor function and structure in retinal degenerations
            caused by biallelic BEST1 mutations
  JOURNAL   Vision Res 203, 108157 (2023)
   PUBMED   36450205
  REMARK    GeneRIF: Photoreceptor function and structure in retinal
            degenerations caused by biallelic BEST1 mutations.
REFERENCE   2  (residues 1 to 604)
  AUTHORS   Yang S, Li Z, Cheng W, Ma M, Qi R, Rui X, Ren Y, Sheng X and Rong
            W.
  TITLE     BEST1 novel mutation causes Bestrophinopathies in six families with
            distinct phenotypic diversity
  JOURNAL   Mol Genet Genomic Med 11 (1), e2095 (2023)
   PUBMED   36378562
  REMARK    GeneRIF: BEST1 novel mutation causes Bestrophinopathies in six
            families with distinct phenotypic diversity.
REFERENCE   3  (residues 1 to 604)
  AUTHORS   Haque OI, Chandrasekaran A, Nabi F, Ahmad O, Marques JP and Ahmad
            T.
  TITLE     A novel compound heterozygous BEST1 gene mutation in two siblings
            causing autosomal recessive bestrophinopathy
  JOURNAL   BMC Ophthalmol 22 (1), 493 (2022)
   PUBMED   36527004
  REMARK    GeneRIF: A novel compound heterozygous BEST1 gene mutation in two
            siblings causing autosomal recessive bestrophinopathy.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 604)
  AUTHORS   Marquardt A, Stohr H, Passmore LA, Kramer F, Rivera A and Weber BH.
  TITLE     Mutations in a novel gene, VMD2, encoding a protein of unknown
            properties cause juvenile-onset vitelliform macular dystrophy
            (Best's disease)
  JOURNAL   Hum Mol Genet 7 (9), 1517-1525 (1998)
   PUBMED   9700209
REFERENCE   5  (residues 1 to 604)
  AUTHORS   Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren
            O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA,
            McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT and
            Wadelius C.
  TITLE     Identification of the gene responsible for Best macular dystrophy
  JOURNAL   Nat Genet 19 (3), 241-247 (1998)
   PUBMED   9662395
REFERENCE   6  (residues 1 to 604)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   7  (residues 1 to 604)
  AUTHORS   MacDonald,I.M., Lee,T. and Lawrence,J.
  TITLE     Bestrophinopathies
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301346
REFERENCE   8  (residues 1 to 604)
  AUTHORS   Forsman K, Graff C, Nordstrom S, Johansson K, Westermark E,
            Lundgren E, Gustavson KH, Wadelius C and Holmgren G.
  TITLE     The gene for Best's macular dystrophy is located at 11q13 in a
            Swedish family
  JOURNAL   Clin Genet 42 (3), 156-159 (1992)
   PUBMED   1395087
REFERENCE   9  (residues 1 to 604)
  AUTHORS   Stone EM, Nichols BE, Streb LM, Kimura AE and Sheffield VC.
  TITLE     Genetic linkage of vitelliform macular degeneration (Best's
            disease) to chromosome 11q13
  JOURNAL   Nat Genet 1 (4), 246-250 (1992)
   PUBMED   1302019
REFERENCE   10 (residues 1 to 604)
  AUTHORS   Nordstrom,S. and Barkman,Y.
  TITLE     Hereditary maculardegeneration (HMD) in 246 cases traced to one
            gene-source in central Sweden
  JOURNAL   Hereditas 84 (2), 163-176 (1977)
   PUBMED   838599
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC015220.2, BC041664.1,
            AF057169.1 and AP003733.5.
            
            Summary: This gene encodes a member of the bestrophin gene family.
            This small gene family is characterized by proteins with a highly
            conserved N-terminus with four to six transmembrane domains.
            Bestrophins may form chloride ion channels or may regulate
            voltage-gated L-type calcium-ion channels. Bestrophins are
            generally believed to form calcium-activated chloride-ion channels
            in epithelial cells but they have also been shown to be highly
            permeable to bicarbonate ion transport in retinal tissue. Mutations
            in this gene are responsible for juvenile-onset vitelliform macular
            dystrophy (VMD2), also known as Best macular dystrophy, in addition
            to adult-onset vitelliform macular dystrophy (AVMD) and other
            retinopathies. Alternative splicing results in multiple variants
            encoding distinct isoforms.[provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (2) encodes the longest isoform
            (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.9336.1,
                                           SRR1660809.76219.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..604
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     Protein         1..604
                     /product="bestrophin-1 isoform 2"
                     /note="Best disease; vitelliform macular dystrophy protein
                     2"
                     /calculated_mol_wt=68965
     Region          <16..256
                     /region_name="Bestrophin"
                     /note="RFP-TM, chloride channel; pfam01062"
                     /db_xref="CDD:426024"
     CDS             1..604
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /coded_by="NM_001139443.2:106..1920"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS44623.1"
                     /db_xref="GeneID:7439"
                     /db_xref="HGNC:HGNC:12703"
                     /db_xref="MIM:607854"
ORIGIN      
        1 mfekltlycd syiqlipisf vlgfyvtlvv trwwnqyenl pwpdrlmslv sgfvegkdeq
       61 grllrrtlir yanlgnvlil rsvstavykr fpsaqhlvqa gfmtpaehkq leklslphnm
      121 fwvpwvwfan lsmkawlggr irdpillqsl lnemntlrtq cghlyaydwi siplvytqvv
      181 tvavysfflt clvgrqflnp akaypgheld lvvpvftflq fffyvgwlkv aeqlinpfge
      241 ddddfetnwi vdrnlqvsll avdemhqdlp rmepdmywnk pepqppytaa saqfrrasfm
      301 gstfnislnk eemefqpnqe deedahagii grflglqshd hhppransrt kllwpkresl
      361 lheglpknhk aakqnvrgqe dnkawklkav dafksaplyq rpgyysapqt plsptpmffp
      421 lepsapsklh svtgidtkdk slktvssgak ksfellsesd galmehpevs qvrrktvefn
      481 ltdmpeipen hlkepleqsp tnihttlkdh mdpywalenr svlhlnqghc ialcptpasl
      541 alslpflhnf lgfhhcqstl dlrpalawgi ylatftgilg kcsgpfltsp wyhpedflgp
      601 gegr
//
LOCUS       NP_001019389             736 aa            linear   PRI 19-MAR-2023
DEFINITION  gephyrin isoform 2 [Homo sapiens].
ACCESSION   NP_001019389
VERSION     NP_001019389.1
DBSOURCE    REFSEQ: accession NM_001024218.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 736)
  AUTHORS   Dos Reis R, Kornobis E, Pereira A, Tores F, Carrasco J, Gautier C,
            Jahannault-Talignani C, Nitschke P, Muchardt C, Schlosser A, Maric
            HM, Ango F and Allemand E.
  TITLE     Complex regulation of Gephyrin splicing is a determinant of
            inhibitory postsynaptic diversity
  JOURNAL   Nat Commun 13 (1), 3507 (2022)
   PUBMED   35717442
  REMARK    GeneRIF: Complex regulation of Gephyrin splicing is a determinant
            of inhibitory postsynaptic diversity.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 736)
  AUTHORS   Patrizio A, Renner M, Pizzarelli R, Triller A and Specht CG.
  TITLE     Alpha subunit-dependent glycine receptor clustering and regulation
            of synaptic receptor numbers
  JOURNAL   Sci Rep 7 (1), 10899 (2017)
   PUBMED   28883437
  REMARK    GeneRIF: Using quantitative photoactivated localisation microscopy
            the authors found that alpha-1 and alpha-3 containing glycine
            receptors display the same alpha3:beta2 stoichiometry and gephyrin
            binding.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 736)
  AUTHORS   Balan S, Yamada K, Iwayama Y, Hashimoto T, Toyota T, Shimamoto C,
            Maekawa M, Takagai S, Wakuda T, Kameno Y, Kurita D, Yamada K,
            Kikuchi M, Hashimoto T, Kanahara N and Yoshikawa T.
  TITLE     Comprehensive association analysis of 27 genes from the GABAergic
            system in Japanese individuals affected with schizophrenia
  JOURNAL   Schizophr Res 185, 33-40 (2017)
   PUBMED   28073605
  REMARK    GeneRIF: This study shown that the SNPs located in the rs723432
            (Pallele=0.007; uncorrected) in the GPHN gene showed associated
            with Japanese individuals affected with schizophrenia.
REFERENCE   4  (residues 1 to 736)
  AUTHORS   Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y,
            van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ,
            Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ,
            Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B,
            Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM,
            Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E,
            Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ,
            Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U,
            Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB and
            Roepman R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 736)
  AUTHORS   Mammoto A, Sasaki T, Asakura T, Hotta I, Imamura H, Takahashi K,
            Matsuura Y, Shirao T and Takai Y.
  TITLE     Interactions of drebrin and gephyrin with profilin
  JOURNAL   Biochem Biophys Res Commun 243 (1), 86-89 (1998)
   PUBMED   9473484
REFERENCE   6  (residues 1 to 736)
  AUTHORS   Meyer G, Kirsch J, Betz H and Langosch D.
  TITLE     Identification of a gephyrin binding motif on the glycine receptor
            beta subunit
  JOURNAL   Neuron 15 (3), 563-572 (1995)
   PUBMED   7546736
REFERENCE   7  (residues 1 to 736)
  AUTHORS   Misko,A., Mahtani,K., Abbott,J., Schwarz,G. and Atwal,P.
  TITLE     Molybdenum Cofactor Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   34870926
REFERENCE   8  (residues 1 to 736)
  AUTHORS   Balint,B. and Thomas,R.
  TITLE     Hereditary Hyperekplexia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301437
REFERENCE   9  (residues 1 to 736)
  AUTHORS   Prior P, Schmitt B, Grenningloh G, Pribilla I, Multhaup G,
            Beyreuther K, Maulet Y, Werner P, Langosch D, Kirsch J et al.
  TITLE     Primary structure and alternative splice variants of gephyrin, a
            putative glycine receptor-tubulin linker protein
  JOURNAL   Neuron 8 (6), 1161-1170 (1992)
   PUBMED   1319186
REFERENCE   10 (residues 1 to 736)
  AUTHORS   Kirsch J, Langosch D, Prior P, Littauer UZ, Schmitt B and Betz H.
  TITLE     The 93-kDa glycine receptor-associated protein binds to tubulin
  JOURNAL   J Biol Chem 266 (33), 22242-22245 (1991)
   PUBMED   1657993
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355093.3, AL133241.3,
            AL117667.4, AL049835.3, AL159179.3 and AL135978.4.
            
            Summary: This gene encodes a neuronal assembly protein that anchors
            inhibitory neurotransmitter receptors to the postsynaptic
            cytoskeleton via high affinity binding to a receptor subunit domain
            and tubulin dimers. In nonneuronal tissues, the encoded protein is
            also required for molybdenum cofactor biosynthesis. Mutations in
            this gene may be associated with the neurological condition
            hyperplexia and also lead to molybdenum cofactor deficiency.
            Numerous alternatively spliced transcript variants encoding
            different isoforms have been described; however, the full-length
            nature of all transcript variants is not currently known. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2), also known as Geph2, lacks an
            alternate, in-frame exon, compared to variant 1. It encodes isoform
            2, which is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF272663.1, AB037806.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142670, SAMEA2145313
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..736
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.3-q24.1"
     Protein         1..736
                     /product="gephyrin isoform 2"
                     /EC_number="2.10.1.1"
                     /EC_number="2.7.7.75"
                     /calculated_mol_wt=79618
     Region          14..166
                     /region_name="MPT Mo-transferase"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQX3.1)"
     Region          15..169
                     /region_name="MogA_MoaB"
                     /note="MogA_MoaB family. Members of this family are
                     involved in biosynthesis of the molybdenum cofactor (MoCF)
                     an essential cofactor of a diverse group of redox enzymes.
                     MoCF biosynthesis is an evolutionarily conserved pathway
                     present in eubacteria, archaea; cd00886"
                     /db_xref="CDD:238451"
     Site            order(87..89,119,145..146,150,153)
                     /site_type="active"
                     /note="MPT binding site [active]"
                     /db_xref="CDD:238451"
     Site            order(89,91..92,94,98,106..108,113,116..117,127,130,169)
                     /site_type="other"
                     /note="trimer interface [polypeptide binding]"
                     /db_xref="CDD:238451"
     Region          140..316
                     /region_name="Interaction with GABARAP.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQX3.1)"
     Region          181..232
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQX3.1)"
     Site            188
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9NQX3.1)"
     Site            194
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9NQX3.1)"
     Site            198
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9NQX3.1)"
     Site            200
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BUV3; propagated from
                     UniProtKB/Swiss-Prot (Q9NQX3.1)"
     Region          260..290
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQX3.1)"
     Site            262
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BUV3; propagated from
                     UniProtKB/Swiss-Prot (Q9NQX3.1)"
     Site            265
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8BUV3; propagated from
                     UniProtKB/Swiss-Prot (Q9NQX3.1)"
     Site            266
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243; propagated from
                     UniProtKB/Swiss-Prot (Q9NQX3.1)"
     Site            268
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BUV3; propagated from
                     UniProtKB/Swiss-Prot (Q9NQX3.1)"
     Site            270
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BUV3; propagated from
                     UniProtKB/Swiss-Prot (Q9NQX3.1)"
     Site            305
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9NQX3.1)"
     Region          326..736
                     /region_name="MPT adenylyltransferase"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQX3.1)"
     Region          327..733
                     /region_name="MoeA"
                     /note="MoeA family. Members of this family are involved in
                     biosynthesis of the molybdenum cofactor (MoCF), an
                     essential cofactor of a diverse group of redox enzymes.
                     MoCF biosynthesis is an evolutionarily conserved pathway
                     present in eubacteria, archaea and...; cd00887"
                     /db_xref="CDD:238452"
     Site            order(348,463,478..481,483,486..487,489,523,525,528,657,
                     698,729)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:238452"
     Site            order(506..507,509,549,573)
                     /site_type="active"
                     /note="putative functional site [active]"
                     /db_xref="CDD:238452"
     Site            order(573..575,625..626,630,633)
                     /site_type="active"
                     /note="putative MPT binding site [active]"
                     /db_xref="CDD:238452"
     CDS             1..736
                     /gene="GPHN"
                     /gene_synonym="GEPH; GPH; GPHRYN; HKPX1; MOCODC"
                     /coded_by="NM_001024218.2:382..2592"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS32103.1"
                     /db_xref="GeneID:10243"
                     /db_xref="HGNC:HGNC:15465"
                     /db_xref="MIM:603930"
ORIGIN      
        1 mategmiltn hdhqirvgvl tvsdscfrnl aedrsginlk dlvqdpsllg gtisaykivp
       61 deieeiketl idwcdekeln lilttggtgf aprdvtpeat keviereapg malamlmgsl
      121 nvtplgmlsr pvcgirgktl iinlpgskkg sqecfqfilp alphaidllr daivkvkevh
      181 deledlpspp pplsppptts phkqtedkgv qceeeeeekk dsgvasteds ssshitaaai
      241 aakipdsiis rgvqvlprdt aslsttpses praqatsrls tascptpkvq srcsskenil
      301 rashsavdit kvarrhrmsp fpltsmdkaf itvlemtpvl gteiinyrdg mgrvlaqdvy
      361 akdnlppfpa svkdgyavra adgpgdrfii gesqageqpt qtvmpgqvmr vttgapipcg
      421 adavvqvedt eliresddgt eelevrilvq arpgqdirpi ghdikrgecv lakgthmgps
      481 eigllatvgv tevevnkfpv vavmstgnel lnpeddllpg kirdsnrstl latiqehgyp
      541 tinlgivgdn pddllnalne gisradviit sggvsmgekd ylkqvldidl haqihfgrvf
      601 mkpglpttfa tldidgvrki ifalpgnpvs avvtcnlfvv palrkmqgil dprptiikar
      661 lscdvkldpr peyhrciltw hhqeplpwaq stgnqmssrl msmrsangll mlppkteqyv
      721 elhkgevvdv mvigrl
//
LOCUS       NP_891991               2090 aa            linear   PRI 19-MAR-2023
DEFINITION  ninein isoform 5 [Homo sapiens].
ACCESSION   NP_891991
VERSION     NP_891991.2
DBSOURCE    REFSEQ: accession NM_182946.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2090)
  AUTHORS   Cao Z, Ge S, Xu Z and Ma YQ.
  TITLE     beta3-Endonexin interacts with ninein in vascular endothelial cells
            to promote angiogenesis
  JOURNAL   Biochem Biophys Res Commun 566, 75-79 (2021)
   PUBMED   34118594
  REMARK    GeneRIF: beta3-Endonexin interacts with ninein in vascular
            endothelial cells to promote angiogenesis.
REFERENCE   2  (residues 1 to 2090)
  AUTHORS   Tong H, Wei Z, Yin J, Zhang B, Zhang T, Deng C, Huang Y and Zhang
            N.
  TITLE     Genetic susceptibility of common polymorphisms in NIN and SIGLEC5
            to chronic periodontitis
  JOURNAL   Sci Rep 9 (1), 2088 (2019)
   PUBMED   30765789
  REMARK    GeneRIF: Genetic susceptibility of common polymorphisms in NIN and
            SIGLEC5 to chronic periodontitis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 2090)
  AUTHORS   Huang N, Xia Y, Zhang D, Wang S, Bao Y, He R, Teng J and Chen J.
  TITLE     Hierarchical assembly of centriole subdistal appendages via
            centrosome binding proteins CCDC120 and CCDC68
  JOURNAL   Nat Commun 8, 15057 (2017)
   PUBMED   28422092
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 2090)
  AUTHORS   Srivatsa S, Parthasarathy S, Molnar Z and Tarabykin V.
  TITLE     Sip1 downstream Effector ninein controls neocortical axonal growth,
            ipsilateral branching, and microtubule growth and stability
  JOURNAL   Neuron 85 (5), 998-1012 (2015)
   PUBMED   25741725
  REMARK    GeneRIF: Ninein influences the rate of axonal growth and branching
            by affecting microtubule stability and dynamics.
REFERENCE   5  (residues 1 to 2090)
  AUTHORS   Jay J, Hammer A, Nestor-Kalinoski A and Diakonova M.
  TITLE     JAK2 tyrosine kinase phosphorylates and is negatively regulated by
            centrosomal protein Ninein
  JOURNAL   Mol Cell Biol 35 (1), 111-131 (2015)
   PUBMED   25332239
  REMARK    GeneRIF: JAK2 Tyrosine Kinase phosphorylates centrosomal protein
            ninein, which negatively regulates it
REFERENCE   6  (residues 1 to 2090)
  AUTHORS   Hong YR, Chen CH, Chuo MH, Liou SY and Howng SL.
  TITLE     Genomic organization and molecular characterization of the human
            ninein gene
  JOURNAL   Biochem Biophys Res Commun 279 (3), 989-995 (2000)
   PUBMED   11162463
REFERENCE   7  (residues 1 to 2090)
  AUTHORS   Hong YR, Chen CH, Chang JH, Wang S, Sy WD, Chou CK and Howng SL.
  TITLE     Cloning and characterization of a novel human ninein protein that
            interacts with the glycogen synthase kinase 3beta
  JOURNAL   Biochim Biophys Acta 1492 (2-3), 513-516 (2000)
   PUBMED   11004522
REFERENCE   8  (residues 1 to 2090)
  AUTHORS   Mack GJ, Rees J, Sandblom O, Balczon R, Fritzler MJ and Rattner JB.
  TITLE     Autoantibodies to a group of centrosomal proteins in human
            autoimmune sera reactive with the centrosome
  JOURNAL   Arthritis Rheum 41 (3), 551-558 (1998)
   PUBMED   9506584
REFERENCE   9  (residues 1 to 2090)
  AUTHORS   Bouckson-Castaing V, Moudjou M, Ferguson DJ, Mucklow S, Belkaid Y,
            Milon G and Crocker PR.
  TITLE     Molecular characterisation of ninein, a new coiled-coil protein of
            the centrosome
  JOURNAL   J Cell Sci 109 (Pt 1), 179-190 (1996)
   PUBMED   8834802
REFERENCE   10 (residues 1 to 2090)
  AUTHORS   Verloes,A., Drunat,S., Gressens,P. and Passemard,S.
  TITLE     Primary Autosomal Recessive Microcephalies and Seckel Syndrome
            Spectrum Disorders - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301772
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133485.3 and AL606834.1.
            On Aug 13, 2020 this sequence version replaced NP_891991.1.
            
            Summary: This gene encodes one of the proteins important for
            centrosomal function. This protein is important for positioning and
            anchoring the microtubules minus-ends in epithelial cells.
            Localization of this protein to the centrosome requires three
            leucine zippers in the central coiled-coil domain. Multiple
            alternatively spliced transcript variants that encode different
            isoforms have been reported. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (5) has multiple differences in
            the coding region and 3' UTR when compared to variant 2. The
            resulting isoform (5) has a distinct and shorter C-terminus as
            compared to isoform 2. Isoform 5 has also been referred to as
            hNinein-Lm.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.4328771.1, AF302773.2
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2090
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.1"
     Protein         1..2090
                     /product="ninein isoform 5"
                     /note="ninein centrosomal protein; glycogen synthase
                     kinase 3 beta-interacting protein; hNinein; ninein (GSK3B
                     interacting protein)"
                     /calculated_mol_wt=243119
     Site            152
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N4C6.4)"
     Site            269
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61043; propagated from
                     UniProtKB/Swiss-Prot (Q8N4C6.4)"
     Region          <407..825
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          574..595
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4C6.4)"
     Region          767..>897
                     /region_name="PRK12704"
                     /note="phosphodiesterase; Provisional"
                     /db_xref="CDD:237177"
     Region          802..1505
                     /region_name="Important for interaction with CEP170.
                     /evidence=ECO:0000250|UniProtKB:Q61043"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4C6.4)"
     Region          920..1648
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          1152..1190
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4C6.4)"
     Region          <1432..>2063
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Site            1550
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8N4C6.4)"
     Site            1837
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61043; propagated from
                     UniProtKB/Swiss-Prot (Q8N4C6.4)"
     CDS             1..2090
                     /gene="NIN"
                     /gene_synonym="SCKL7"
                     /coded_by="NM_182946.2:233..6505"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS32079.1"
                     /db_xref="GeneID:51199"
                     /db_xref="HGNC:HGNC:14906"
                     /db_xref="MIM:608684"
ORIGIN      
        1 mdeveqdqhe arlkelfdsf dttgtgslgq eeltdlchml sleevapvlq qtllqdnllg
       61 rvhfdqfkea lililsrtls neehfqepdc sleaqpkyvr ggkrygrrsl pefqesveef
      121 pevtviepld eearpshipa gdcsehwktq rseeyeaegq lrfwnpddln asqsgssppq
      181 dwieeklqev cedlgitrdg hlnrkklvsi ceqyglqnvd gemleevfhn ldpdgtmsve
      241 dffyglfkng ksltpsastp yrqlkrhlsm qsfdesgrrt ttssamtsti gfrvfscldd
      301 gmghasveri ldtwqeegie nsqeilkald fsldgninlt eltlalenel lvtknsihqa
      361 alasfkaeir hllervdqvv rekeklrsdl dkaeklkslm asevddhhaa ierrneynlr
      421 kldeeykeri aalknelrke reqilqqagk qrleleqeie kakteenyir drlalslken
      481 srlenellen aeklaeyenl tnklqrnlen vlaekfgdld pssaefflqe erltqmrney
      541 erqcrvlqdq vdelqselee yraqgrvlrl plknspseev eansggiepe hglgseecnp
      601 lnmsieaelv ieqmkeqhhr dicclrlele dkvrhyekql detvvsckka qenmkqrhen
      661 ethtlekqis dlkneiaelq gqaavlkeah heatcrheee kkqlqvklee ekthlqeklr
      721 lqhemelkar ltqaqasfer ereglqssaw teekvrgltq eleqfhqeql tslvekhtle
      781 keelrkelle khqrelqegr ekmetecnrr tsqieaqfqs dcqkvterce salqslegry
      841 rqelkdlqeq qreeksqwef ekdeltqeca eaqellketl krekttslvl tqeremlekt
      901 ykehlnsmvv erqqllqdle dlrnvsetqq sllsdqilel ksshkrelre reevlcqaga
      961 seqlasqrle rlemehdqer qemmskllam enihkatcet adreraemst eisrlqskik
     1021 emqqatspls mlqsgcqvig eeevegdgal sllqqgeqll eengdvllsl qraheqavke
     1081 nvkmateisr lqqrlqklep glvmssclde pateffgnta eqteqflqqn rtkqvegvtr
     1141 rhvlsdledd evrdlgstgt ssvqrqevki eeseasvegf selenseetr teswelknqi
     1201 sqlqeqlmml cadcdrasek kqdllfdvsv lkkklkmler ipeaspkykl lyedvsrend
     1261 clqeelrmme trydealenn keltaevfrl qdelkkmeev tetflsleks ydevkieneg
     1321 lnvlvlrlqg kieklqesvv qrcdcclwea slenleiepd gnilqlnqtl eecvprvrsv
     1381 hhvieeckqe nqylegntql lekvkaheia wlhgtiqthq erprvqnqvi leenttllgf
     1441 qdkhfqhqat iaelelektk lqeltrklke rvtilvkqkd vlshgekeee lkammhdlqi
     1501 tcsemqqkve llryeseklq qensilrnei ttlneedsis nlklgtlngs qeemwqktet
     1561 vkqenaavqk mvenlkkqis elkiknqqld lentelsqkn sqnqeklqel nqrltemlcq
     1621 kekepgnsal eereqekfnl keelerckvq sstlvsslea elsevkiqth ivqqenhllk
     1681 delekmkqlh rcpdlsdfqq kissvlsyne kllkekeals eelnscvdkl akssllehri
     1741 atmkqeqksw ehqsaslksq lvasqekvqn ledtvqnvnl qmsrmksdlr vtqqekealk
     1801 qevmslhkql qnaggkswap eiathpsglh nqqkrlswdk ldhlmneeqq llwqenerlq
     1861 tmvqntkael thsrekvrql esnllpkhqk hlnpsgtmnp teqeklslkr ecdqfqkeqs
     1921 panrkvsqmn sleqeletih leneglkkkq vkldeqlmem qhlrstatps psphawdlql
     1981 lqqqacpmvp reqflqlqrq llqaerinqh lqeelenrts etntpqgnqe qlvtvmeerm
     2041 ieveqklklv krllqekvnq lkeqvslpgh lcsptshssf nssftslych
//
LOCUS       XP_016855500             878 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/arginine repetitive matrix protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_016855500
VERSION     XP_016855500.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017000011.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..878
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..878
                     /product="serine/arginine repetitive matrix protein 1
                     isoform X1"
                     /calculated_mol_wt=99189
     Region          7..76
                     /region_name="PWI"
                     /note="PWI domain; pfam01480"
                     /db_xref="CDD:426282"
     Region          <375..704
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <580..>714
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     CDS             1..878
                     /gene="SRRM1"
                     /gene_synonym="160-KD; POP101; SRM160"
                     /coded_by="XM_017000011.2:271..2907"
                     /db_xref="GeneID:10250"
                     /db_xref="HGNC:HGNC:16638"
                     /db_xref="MIM:605975"
ORIGIN      
        1 mskvnlevik pwitkrvtei lgfeddvvie fifnqlevkn pdskmmqinl tgflngknar
       61 efmgelwpll lsaqeniagi psaflelkke eikqrqieqe klasmkkqde dkdkrdkeek
      121 essrekrers rsprrrksrs psprrrsspv rrerkrshsr sprhrtksrs pspapekkek
      181 tpelpepsvk vkepsvqeat stsdilkvpk pepipepkep speknskkek ekektrprsr
      241 srsksrsrtr srspshtrpr rrhrsrsrsy sprrrpsprr rpsprrrtpp rrmpppprhr
      301 rsrspvrrrr rssaslsgss ssssssrsrs ppkkppkrts spprktrrls psaspprrrh
      361 rpsppatppp ktrhsptpqq snrtrksrvs vspgrtsgkv tkhkgtekre spspapkprk
      421 velsesedkg gkmaaadsvq qrrqyrrqnq qsssdsgsss ssederpkrs hvkngevgrr
      481 rrhspsrsas psprkrqket sprmqmgkrw qspvtksgrr rrspsppptr rrrspspapp
      541 prrrrtptpp prrrtpsppp rrrspsprry sppiqrrysp spppkrrtas pppppkrras
      601 pspppkrrvs hspppkqrss pvtkrrspsl sskhrkgssp srstrearsp qpnkrhspsp
      661 rprapqtsss pppvrrgass spqrrqspsp strpirrvsr tpepkkikka aspspqsvrr
      721 vsssrsvsgs pepaakkppa ppspvqsqsp stnwspavpv kkaksptpsp spprnsdqeg
      781 ggkkkkkkkd kkhkkdkkhk khkkhkkeka vaaaaaaavt paaiaaattt laqeepvaap
      841 epkketesea ednlddlekh lrekalrsmr kaqvspqs
//
LOCUS       XP_011507778             664 aa            linear   PRI 20-MAR-2023
DEFINITION  BMP/retinoic acid-inducible neural-specific protein 3 isoform X4
            [Homo sapiens].
ACCESSION   XP_011507778
VERSION     XP_011507778.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011509476.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..664
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..664
                     /product="BMP/retinoic acid-inducible neural-specific
                     protein 3 isoform X4"
                     /calculated_mol_wt=76168
     Region          <39..161
                     /region_name="MACPF"
                     /note="MAC/Perforin domain; cl02616"
                     /db_xref="CDD:445855"
     Region          217..664
                     /region_name="BRINP"
                     /note="BMP/retinoic acid-inducible neural-specific
                     protein; pfam19052"
                     /db_xref="CDD:436923"
     CDS             1..664
                     /gene="BRINP3"
                     /gene_synonym="DBCCR1L; DBCCR1L1; FAM5C"
                     /coded_by="XM_011509476.3:581..2575"
                     /db_xref="GeneID:339479"
                     /db_xref="HGNC:HGNC:22393"
                     /db_xref="MIM:618390"
ORIGIN      
        1 mpqapstgss lirdpsiahr ntqilwteag rdlaqdtryt geesltifvd krklskraeg
       61 sdsttnsssv tletlhqlaa syfidrdstl rrlhhiqias taikvtetrt gplgcsnydn
      121 ldsvssvlvq spenkiqlqg lqvllpdylq erfvqaalsy iacnsegefi ckendcwchc
      181 gpkfpecncp smdiqameen llritetwka ynsdfeesde fklfmkrlpm nyflntstim
      241 hlwtmdsnfq rryeqlensm kqlflkaqki vhklfslskr chkqplislp rqrtstywlt
      301 riqsflycne ngllgsfsee thsctcpndq vvctaflpct vgdasacltc apdnrtrcgt
      361 cntgymlsqg lckpevaest dhyigfetdl qdlemkyllq ktdrrievha ifisndmrln
      421 swfdpswrkr mlltlksnky ksslvhmilg lslqicltkn stlepvlavy vnpfggshse
      481 swfmpvnens fpdwertkld lplqcynwtl tlgnkwktff etvhiylrsr iksngpngne
      541 siyyeplefi dpsrnlgymk inniqvfgys mhfdpeaird lilqldypyt qgsqdsallq
      601 lleirdrvnk lsppgqrrld lfscllrhrl klstsevvri qsalqafnak lpntmdydtt
      661 klcs
//
LOCUS       XP_016857135             551 aa            linear   PRI 20-MAR-2023
DEFINITION  FGGY carbohydrate kinase domain-containing protein isoform X2 [Homo
            sapiens].
ACCESSION   XP_016857135
VERSION     XP_016857135.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017001646.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..551
                     /product="FGGY carbohydrate kinase domain-containing
                     protein isoform X2"
                     /calculated_mol_wt=59862
     Region          10..544
                     /region_name="FGGY_YpCarbK_like"
                     /note="Yersinia Pseudotuberculosis carbohydrate
                     kinase-like subgroup; belongs to the FGGY family of
                     carbohydrate kinases; cd07782"
                     /db_xref="CDD:212663"
     Site            order(12,14,16,23,25,27,31..32,36,79..84,135..138,145,
                     187..188,191,193,198,230,233,253,255,263,266..267,308,
                     312..320,396,400,485..487,489..490,492..497,509..510)
                     /site_type="other"
                     /note="N- and C-terminal domain interface [polypeptide
                     binding]"
                     /db_xref="CDD:212663"
     Site            order(16,18..21,23,86..87,114,260..261,293..295,298,335,
                     339,362,456..458,461,485)
                     /site_type="active"
                     /db_xref="CDD:212663"
     Site            order(16,18..21,23,260,293..295,335..336,338..339,
                     362..363,365,456..458,461)
                     /site_type="other"
                     /note="MgATP binding site [chemical binding]"
                     /db_xref="CDD:212663"
     Site            order(16,19,260)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:212663"
     Site            order(18..19,86..87,114,144,193,260..261,295,298,328)
                     /site_type="other"
                     /note="carbohydrate binding site [chemical binding]"
                     /db_xref="CDD:212663"
     Site            order(336,340,343,385,387,392..393,405..410,418..420)
                     /site_type="other"
                     /note="putative homodimer interface [polypeptide binding]"
                     /db_xref="CDD:212663"
     CDS             1..551
                     /gene="FGGY"
                     /coded_by="XM_017001646.2:160..1815"
                     /db_xref="GeneID:55277"
                     /db_xref="HGNC:HGNC:25610"
                     /db_xref="MIM:611370"
ORIGIN      
        1 msggeqkper yyvgvdvgtg svraalvdqs gvllafadqp iknwepqfnh heqssediwa
       61 accvvtkkvv qgidlnqirg lgfdatcslv vldkqfhplp vnqegdshrn vimwldhrav
      121 sqvnrinetk hsvlqyvggv msvemqapkl lwlkenlrei cwdkaghffd lpdflswkat
      181 gvtarslcsl vckwtysaek gwddsfwkmi gledfvadny skignqvlpp gaslgngltp
      241 eaardlgllp giavaaslid ahagglgvig advrghglic egqpvtsrla vicgtsschm
      301 giskdpifvp gvwgpyfsam vpgfwlnegg qsvtgklidh mvqghaafpe lqvkatarcq
      361 siyaylnshl dlikkaqpvg fltvdlhvwp dfhgnrspla dltlkgmvtg lklsqdlddl
      421 ailylatvqa ialgtrfiie ameaaghsis tlflcgglsk nplfvqmhad itgmpvvlsq
      481 evesvlvgaa vlgacasgdf asvqeamakm skvgkvvfpr lqdkkyydkk yqvflklveh
      541 qkeylaimnd d
//
LOCUS       XP_005245667             132 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C1orf105 isoform X4 [Homo sapiens].
ACCESSION   XP_005245667
VERSION     XP_005245667.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005245610.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..132
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..132
                     /product="uncharacterized protein C1orf105 isoform X4"
                     /calculated_mol_wt=15255
     Region          <1..131
                     /region_name="DUF4548"
                     /note="Domain of unknown function (DUF4548); pfam15081"
                     /db_xref="CDD:373540"
     CDS             1..132
                     /gene="C1orf105"
                     /coded_by="XM_005245610.5:229..627"
                     /db_xref="GeneID:92346"
                     /db_xref="HGNC:HGNC:29591"
ORIGIN      
        1 mnlpilfqvp dvlskarrnq cdsmllrnqq lcstcqemkm vqprtmkipd dpkasfencm
       61 syrmslhqpk fqttpepfhd diptesihyr lpilgprtav fhgllteayk tlkerqrssl
      121 prkepigktt rq
//
LOCUS       XP_047281130             633 aa            linear   PRI 20-MAR-2023
DEFINITION  insulin-degrading enzyme isoform X6 [Homo sapiens].
ACCESSION   XP_047281130
VERSION     XP_047281130.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425174.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..633
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..633
                     /product="insulin-degrading enzyme isoform X6"
                     /calculated_mol_wt=72796
     Region          52..>620
                     /region_name="Ptr"
                     /note="Secreted/periplasmic Zn-dependent peptidases,
                     insulinase-like [Posttranslational modification, protein
                     turnover, chaperones]; COG1025"
                     /db_xref="CDD:223956"
     CDS             1..633
                     /gene="IDE"
                     /gene_synonym="INSULYSIN"
                     /coded_by="XM_047425174.1:75..1976"
                     /db_xref="GeneID:3416"
                     /db_xref="HGNC:HGNC:5381"
                     /db_xref="MIM:146680"
ORIGIN      
        1 mryrlawllh palpstfrsv lgarlppper lcgfqkktys kmnnpaikri gnhitksped
       61 kreyrglela ngikvllisd pttdkssaal dvhigslsdp pniaglshfc ehmlflgtkk
      121 ypkeneysqf lsehagssna ftsgehtnyy fdvshehleg aldrfaqffl cplfdesckd
      181 revnavdseh eknvmndawr lfqlekatgn pkhpfskfgt gnkytletrp nqegidvrqe
      241 llkfhsayys snlmavcvlg reslddltnl vvklfseven knvplpefpe hpfqeehlkq
      301 lykivpikdi rnlyvtfpip dlqkyyksnp ghylghligh egpgsllsel kskgwvntlv
      361 ggqkegargf mffiinvdlt eegllhvedi ilhmfqyiqk lraegpqewv fqeckdlnav
      421 afrfkdkerp rgytskiagi lhyypleevl taeylleefr pdliemvldk lrpenvrvai
      481 vsksfegktd rteewygtqy kqeaipdevi kkwqnadlng kfklptknef iptnfeilpl
      541 ekeatpypal ikdtamsklw fkqddkfflp kaclnfeffs pfayvdplhc nmaylylell
      601 kdslneyaya aelaglsydl qntiygmysl hlc
//
LOCUS       XP_047283060             629 aa            linear   PRI 20-MAR-2023
DEFINITION  PHD finger protein 21A isoform X17 [Homo sapiens].
ACCESSION   XP_047283060
VERSION     XP_047283060.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427104.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..629
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..629
                     /product="PHD finger protein 21A isoform X17"
                     /calculated_mol_wt=68912
     CDS             1..629
                     /gene="PHF21A"
                     /gene_synonym="BHC80; BM-006; IDDBCS; NEDMS"
                     /coded_by="XM_047427104.1:757..2646"
                     /db_xref="GeneID:51317"
                     /db_xref="HGNC:HGNC:24156"
                     /db_xref="MIM:608325"
ORIGIN      
        1 melqtlqeal kveiqvhqkl vaqmkqdpqn adlkkqlhel qakitalsek qkrvveqlrk
       61 nlivkqeqpd kfqiqplpqs enklqtaqqq plqqlqqqqq yhhhhaqqsa aaspnltasq
      121 ktvttasmit tktlplvlka atatmpasvv gqrptiamvt ainsqkavls tdvqntpvnl
      181 qtsskvtgpg aeavqivakn tvtlqvqatp pqpikvpqfi ppprltprpn flpqvrpkpv
      241 aqnnipiapa pppmlaapql iqrpvmltkf tpttlptsqn sihpvrvvng qtatiaktfp
      301 maqltsivia tpgtrlagpq tvqlskpsle kqtvkshtet dekqtesrti tppaapkpkr
      361 eenpqklafm vslglvthdh leeiqskrqe rkrrttanpv ysgavfeper kksavtylns
      421 tmhpgtrkrg rppkynavlg fgaltptspq sshpdspene ktettftfpa pvqpvslpsp
      481 tstdmlkkee aipwpgtlai vhsyiaykaa keeekqkllk wssdlkqere qleqkvkqls
      541 nsiskcmemk ntilarqkem hsslekvkql irlihgidls kpvdseatvg aisngpdctp
      601 panaatstpa pspssqscta ncnqgeetk
//
LOCUS       XP_047283240            1267 aa            linear   PRI 20-MAR-2023
DEFINITION  BRCA2-interacting transcriptional repressor EMSY isoform X19 [Homo
            sapiens].
ACCESSION   XP_047283240
VERSION     XP_047283240.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427284.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1267
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1267
                     /product="BRCA2-interacting transcriptional repressor EMSY
                     isoform X19"
                     /calculated_mol_wt=135279
     Region          17..81
                     /region_name="ENT"
                     /note="ENT domain; pfam03735"
                     /db_xref="CDD:427473"
     Region          <895..1066
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     CDS             1..1267
                     /gene="EMSY"
                     /gene_synonym="C11orf30; GL002"
                     /coded_by="XM_047427284.1:151..3954"
                     /db_xref="GeneID:56946"
                     /db_xref="HGNC:HGNC:18071"
                     /db_xref="MIM:608574"
ORIGIN      
        1 mpvvwptlld lsrdeckril rkleleayag visalraqgd ltkekkdllg elskvlsist
       61 erhraevrra vnderlttia hkmnlslylg erpsysmsgp nsssewsieg rrlvplmprl
      121 vpqtaftvta navanaaiqh naslpvpaet gskevvcysy tsttstptst pvpsgsiatv
      181 ksprpaspas nvvvlpsgst vyvksvscsd edekprkrrr tnssssspvv lkevpkavvp
      241 vsktitvpvs gspkmsnimq sianslpphm spvkitftkp stqttntttq kviivttsps
      301 stfvpnilsk shnyaavtkl vptsviastt qkppvvitas qsslvsnsss gsssstpspi
      361 pntvavtavv sstpsvvmst vaqgvstsai kmastrlpsp kslvsaptqi laqfpkqhqq
      421 spkqqlyqvq qqtqqqvaqp spvshqqqpq qsplppgikp tiqikqesgv kiitqqvqps
      481 kilpkpvtat lptssnspim vvssngaimt tklvttptgt qatytrptvs psigrmaatp
      541 gaatyvktts gsiitvvpks latlggkiis snivsgtttk ittipmtskp nvivvqkttg
      601 kgttiqglpg knvvttllna ggektiqtvp tgakpailta trpitkmivt qpkgigstvq
      661 paakiiptki vygqqgktqv likpkpvtfq atvvseqtrq lvtetlqqas rvaeagnssi
      721 qegkeepqny tdssssstes sqssqvkekl eskprqptid lsqmavpiqm tqekrhspes
      781 psiavvesel vaeyittvsh rsqpqqpsqp qrtllqhvaq sqtatqtsvv vksipasspg
      841 aithimqqal sshtaftkhs eelgteegev eemdtldpqt glfyrsaltq sqsakqqkls
      901 qppleqtqlq vktlqcfqtk qkqtihlqad qlqhklpqmp qlsirhqklt plqqeqaqpk
      961 pdvqhtqhpm vakdrqlptl maqppqtvvq vlavkttqql pklqqapnqp kiyvqpqtpq
     1021 sqmslpasse kqtasqveqp iitqgssvtk itfegrqppt vtkitggssv pkltspvtsi
     1081 spiqasekta vsdilkmslm eaqidtnveh mivdppkkal atsmltgeag slpsthmvva
     1141 gmanstpqqq kcrescssps tvgsslttrk idppavpatg qfmriqnvgq kkaeespaei
     1201 iiqaipqyai pchsssnvvv epsgllelnn ftsqqlddee tameqdidss tedgtepsps
     1261 qssaers
//
LOCUS       XP_016874253             459 aa            linear   PRI 20-MAR-2023
DEFINITION  proton myo-inositol cotransporter isoform X3 [Homo sapiens].
ACCESSION   XP_016874253
VERSION     XP_016874253.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017018764.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..459
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..459
                     /product="proton myo-inositol cotransporter isoform X3"
                     /calculated_mol_wt=51079
     Region          <1..407
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     CDS             1..459
                     /gene="SLC2A13"
                     /gene_synonym="HMIT"
                     /coded_by="XM_017018764.2:92..1471"
                     /db_xref="GeneID:114134"
                     /db_xref="HGNC:HGNC:15956"
                     /db_xref="MIM:611036"
ORIGIN      
        1 mtvpvyiaev sppnlrgrlv tintlfitgg qffasvvdga fsylqkdgwr ymlglaavpa
       61 viqffgflfl pesprwliqk gqtqkarril sqmrgnqtid eeydsiknni eeeekevgsa
      121 gpvicrmlsy pptrralivg cglqmfqqls gintimyysa tilqmsgved drlaiwlasv
      181 taftnfiftl vgvwlvekvg rrkltfgsla gttvaliila lgfvlsaqvs pritfkpiap
      241 sgqnatctry sycnecmldp dcgfcykmnk stvidsscvp vnkastneaa wgrcenetkf
      301 ktedifwayn fcptpyswta llglilylvf fapgmgpmpw tvnseiyplw arstgnacss
      361 ginwifnvlv sltflhtaey ltyygaffly agfaavgllf iygclpetkg kkleeieslf
      421 dnrlctcgts dsdegryiey irvkgsnyhl sdndasdve
//
LOCUS       XP_047285433             454 aa            linear   PRI 20-MAR-2023
DEFINITION  signal transducer and activator of transcription 6 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047285433
VERSION     XP_047285433.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429477.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..454
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..454
                     /product="signal transducer and activator of transcription
                     6 isoform X3"
                     /calculated_mol_wt=50523
     Region          <11..39
                     /region_name="STAT_DBD"
                     /note="DNA-binding domain of Signal Transducer and
                     Activator of Transcription (STAT); cl28920"
                     /db_xref="CDD:355796"
     Region          124..253
                     /region_name="SH2_STAT6"
                     /note="Src homology 2 (SH2) domain found in signal
                     transducer and activator of transcription (STAT) 6
                     proteins; cd10377"
                     /db_xref="CDD:198240"
     Site            order(151,169,195,197)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198240"
     Site            order(196,212)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198240"
     Site            order(206..207,253)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:198240"
     Region          262..454
                     /region_name="STAT6_C"
                     /note="STAT6 C-terminal; pfam14596"
                     /db_xref="CDD:291272"
     CDS             1..454
                     /gene="STAT6"
                     /gene_synonym="D12S1644; IL-4-STAT; STAT6B; STAT6C"
                     /coded_by="XM_047429477.1:233..1597"
                     /db_xref="GeneID:6778"
                     /db_xref="HGNC:HGNC:11368"
                     /db_xref="MIM:601512"
ORIGIN      
        1 mclgfmhtga ralslplvvi vhgnqdnnak atilwdnafs emdrvpfvva ervpwekmce
       61 tlnlkfmaev gtnrgllpeh flflaqkifn dnslsmeafq hrsvswsqfn keillgrgft
      121 fwqwfdgvld ltkrclrsyw sdrliigfis kqyvtsllln epdgtfllrf sdseiggiti
      181 ahvirgqdgs pqieniqpfs akdlsirslg drirdlaqlk nlypkkpkde afrshykpeq
      241 mgkdgrgyvp atikmtverd qplptpelqm ptmvpsydlg mapdssmsmq lgpdmvpqvy
      301 pphshsippy qglspeesvn vlsafqephl qmppslgqms lpfdqphpqg llpcqpqeha
      361 vsspdpllcs dvtmvedscl sqpvtafpqg twigedifpp llppteqdlt klllegqges
      421 gggslgaqpl lqpshygqsg ismshmdlra npsw
//
LOCUS       XP_016875491             126 aa            linear   PRI 20-MAR-2023
DEFINITION  retinol-binding protein 5 isoform X1 [Homo sapiens].
ACCESSION   XP_016875491
VERSION     XP_016875491.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017020002.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..126
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..126
                     /product="retinol-binding protein 5 isoform X1"
                     /calculated_mol_wt=14642
     Region          16..125
                     /region_name="lipocalin_FABP"
                     /note="lipocalin/cytosolic fatty acid-binding protein
                     family; cl10502"
                     /db_xref="CDD:447910"
     Site            order(32,34,41,43,45,52,54,56,87,89,96,98,100,107,109,111,
                     118,120,122)
                     /site_type="other"
                     /note="ligand binding cavity [chemical binding]"
                     /db_xref="CDD:381182"
     CDS             1..126
                     /gene="RBP5"
                     /gene_synonym="CRBP-III; CRBP3; CRBPIII; HRBPiso"
                     /coded_by="XM_017020002.2:248..628"
                     /db_xref="GeneID:83758"
                     /db_xref="HGNC:HGNC:15847"
                     /db_xref="MIM:611866"
ORIGIN      
        1 mmnqaqwilk pgtmadisla vrkialllkp dkeiehqgnh mtvrtlstfr nytvqfdvgv
       61 efeedlrsvd grkcqtivtw eeehlvcvqk gevpnrgwrh wlegemlyle ltardavceq
      121 vfrkvr
//
LOCUS       XP_005266399            1088 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase LATS2 isoform X1 [Homo sapiens].
ACCESSION   XP_005266399
VERSION     XP_005266399.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005266342.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1088
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..1088
                     /product="serine/threonine-protein kinase LATS2 isoform
                     X1"
                     /calculated_mol_wt=120005
     Region          101..141
                     /region_name="UBA_LATS2"
                     /note="UBA domain found in vertebrate
                     serine/threonine-protein kinase LATS2; cd14398"
                     /db_xref="CDD:270581"
     Region          <158..460
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          585..667
                     /region_name="MobB_LATS2"
                     /note="Mob-binding domain found in large tumor suppressor
                     homolog 2 (LATS2); cd21777"
                     /db_xref="CDD:439272"
     Site            order(602..603,605..607,609,614,617,620,624,649,653..654,
                     656..658,660)
                     /site_type="other"
                     /note="putative Mob binding site [polypeptide binding]"
                     /db_xref="CDD:439272"
     Region          666..1046
                     /region_name="STKc_LATS2"
                     /note="Catalytic domain of the Protein Serine/Threonine
                     Kinase, Large Tumor Suppressor 2; cd05626"
                     /db_xref="CDD:173715"
     Site            order(674..678,682,695,697,729,745..746,748,752,754,791,
                     793,795..796,798,808..809,812,873..878,905,911,914)
                     /site_type="active"
                     /db_xref="CDD:173715"
     Site            order(674..678,682,695,697,729,746..748,752,791,793,
                     795..796,798,808..809)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:173715"
     Site            order(678,752,754,791,793,795,812,873..878,905,911,914)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:173715"
     Site            order(808..820,868..878)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:173715"
     Site            1037..1042
                     /site_type="other"
                     /note="hydrophobic motif (HM)"
                     /db_xref="CDD:173715"
     CDS             1..1088
                     /gene="LATS2"
                     /gene_synonym="KPM"
                     /coded_by="XM_005266342.1:481..3747"
                     /db_xref="GeneID:26524"
                     /db_xref="HGNC:HGNC:6515"
                     /db_xref="MIM:604861"
ORIGIN      
        1 mrpktfpatt ysgnsrqrlq eireglkqps kssvqglpag pnsdtsldak vlgskdatrq
       61 qqqmratpkf gpyqkalrei rysllpfane sgtsaaaevn rqmlqelvna gcdqemagra
      121 lkqtgsrsie aaleyiskmg yldprneqiv rvikqtspgk glmptpvtrr psfegtgdsf
      181 asyhqlsgtp yegpsfgadg ptaleemprp yvdylfpgvg phgpghqhqh ppkgygasve
      241 aagahfplqg ahygrphllv pgeplgygvq rspsfqsktp petggyaslp tkgqggppga
      301 glafpppaag lyvphphhkq agpaahqlhv lgsrsqvfas dsppqslltp srnslnvdly
      361 elgstsvqqw paatlarrds lqkpgleapp rahvafrpdc pvpsrtnsfn shqprpgppg
      421 kaepslpapn tvtavtaahi lhpvksvrvl rpepqtavgp shpawvpapa papapapapa
      481 aegldakeeh alalggagaf pldveyggpd rrcppppypk hlllrskseq ydldslcagm
      541 eqslragpne peggdksrks akgdkggkdk kqiqtspvpv rknsrdeekr esriksyspy
      601 afkffmeqhv enviktyqqk vnrrlqleqe makaglceae qeqmrkilyq kesnynrlkr
      661 akmdksmfvk iktlgigafg evclackvdt halyamktlr kkdvlnrnqv ahvkaerdil
      721 aeadnewvvk lyysfqdkds lyfvmdyipg gdmmsllirm evfpehlarf yiaeltlaie
      781 svhkmgfihr dikpdnilid ldghikltdf glctgfrwth nskyyqkgsh vrqdsmepsd
      841 lwddvsncrc gdrlktleqr arkqhqrcla hslvgtpnyi apevllrkgy tqlcdwwsvg
      901 vilfemlvgq ppflaptpte tqlkvinwen tlhipaqvkl speardlitk lccsadhrlg
      961 rngaddlkah pffsaidfss dirkqpapyv ptishpmdts nfdpvdeesp wndasegstk
     1021 awdtltspnn khpehafyef tfrrffddng ypfrcpkpsg aeasqaessd lessdlvdqt
     1081 egcqpvyv
//
LOCUS       XP_005267607            1589 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 170 kDa protein B isoform X3 [Homo sapiens].
ACCESSION   XP_005267607
VERSION     XP_005267607.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005267550.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1589
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1589
                     /product="centrosomal protein of 170 kDa protein B isoform
                     X3"
                     /calculated_mol_wt=171558
     Region          1..106
                     /region_name="FHA_Cep170B"
                     /note="forkhead associated (FHA) domain found in
                     centrosomal protein of 170 kDa protein B (Cep170B) and
                     similar proteins; cd22725"
                     /db_xref="CDD:438777"
     Site            order(26..27,40..41,43,62,64..65)
                     /site_type="other"
                     /note="putative phosphopeptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438777"
     Region          <343..862
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          842..1525
                     /region_name="CEP170_C"
                     /note="CEP170 C-terminus; pfam15308"
                     /db_xref="CDD:434618"
     CDS             1..1589
                     /gene="CEP170B"
                     /gene_synonym="CEP170R; FAM68C; KIAA0284"
                     /coded_by="XM_005267550.5:274..5043"
                     /db_xref="GeneID:283638"
                     /db_xref="HGNC:HGNC:20362"
                     /db_xref="MIM:620251"
ORIGIN      
        1 msatswflvs ssgarhrlpr elifvgreec elmlqsrsvd kqhavinydq drdehwvkdl
       61 gslngtfvnd mripdqkyvt lklndvirfg ydsnmyvler vqhrvpeeal khekytsqlq
      121 vsvkglapkr sealpehtpy ceasnprpek gdrrpgteaa syrtplygqp swwgeddgst
      181 lpdaqrqgep yperpkgpvq qdgelhgfra paepqgcsfr repsyfeipt ketpqpsqpp
      241 evpahemptk daeaggggaa pvvqshasft iefddcspgk mkikdhitkf slrqrrppgk
      301 eatpgemvsa etkvadwlvq ndpsllhrvg pgddrhstks dlpvhtrtlk ghkhedgtqs
      361 dsedplakaa saagvpleas geqvrlqrqi krdpqellhn qqafvieffd edtprkkrsq
      421 sfthspsgdp kadkrrgptp adrdrpsvpa pvqaggrssg pqragslkre kteerlgsps
      481 pasrtparpf gsvgrrsrla qdfmaqclre sspaarpspe kvppvlpapl tphgtspvgp
      541 ptpppaptdp qltkarkqee ddslsdagty tieteaqdte veearkmidq vfgvlespel
      601 srassatfrp virgdrdesd dggvaqrmal lqefasrplg aapqaehqgl pvpgspggqk
      661 wvsrwaslad sysdpglted glgrrggepe gslpvrmrrr lpqlpserad spagpessrr
      721 sgpgppelds eqpsrlfgqe eldpdslsda sgsdggrgpe pgvepqdsrr rspqegptws
      781 rgrrsprapg eptpasffig dqngdavlsr kplaapgdge glgqtaqpsp pardgvyvsa
      841 ngrmviqlrp grspepdgpa paflrqesft kepasgppap gkpphisshp llqdlaatra
      901 armdfhsqdt hlilketeta laalearlls nsvdaecegg stprppedal sgdsdvdtas
      961 tvslrsgksg pspttpqplr aqkemspspp aaqdpggtal vsareqsser qhhplgptdm
     1021 grgepvrrsa irrghrprgs ldwpseergp vlahlpssdv masnhetpea tgagrlgsrr
     1081 kpaapppspa areeqsrssa ssqkgpqalt rsnslstprp trasrlrrar lgdasdteaa
     1141 dgergslgnp epvgrpaaeq akklsrldil amprkragsf tgtsdpeaap artsfsgrsv
     1201 elccasrkpt maearavsrk aantatttgp rqpfsrarsg sarytsntrr rqqgsdytst
     1261 seeeygsrhg spkhtrshts tatqtprags ssrarsrapg prdtdddeee pdpygfivqt
     1321 aeiaeiarls qtlvkdvail aqeihdvagd gdtlgssepa hsaslsnmps tpastisare
     1381 elvqripeas lnfqkvppgs lnsrdfdqnm ndscedalan ktrprnreev ifdnlmlnpv
     1441 sqlsqairen tehlaekmki lfqntgrawe dlearinaen evpilktsnk eissilkelr
     1501 rvqkqlevin aivdpsgsld lltgnrslas saqpglgkgr vaaqsppspa saeallpalp
     1561 lrnfpqrasc gppslpdptf lpdaerfli
//
LOCUS       XP_047288663            1047 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase Arkadia isoform X4 [Homo sapiens].
ACCESSION   XP_047288663
VERSION     XP_047288663.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432707.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1047
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1047
                     /product="E3 ubiquitin-protein ligase Arkadia isoform X4"
                     /calculated_mol_wt=114674
     Region          71..345
                     /region_name="RNF111_N"
                     /note="E3 ubiquitin-protein ligase Arkadia N-terminus;
                     pfam15303"
                     /db_xref="CDD:434613"
     Region          405..>544
                     /region_name="DUF5585"
                     /note="Family of unknown function (DUF5585); pfam17823"
                     /db_xref="CDD:436069"
     Region          983..1043
                     /region_name="RING-H2_RNF111"
                     /note="RING finger, H2 subclass, found in RING finger
                     protein 111 (RNF111) and similar proteins; cd16681"
                     /db_xref="CDD:438343"
     CDS             1..1047
                     /gene="RNF111"
                     /gene_synonym="ARK; hRNF111"
                     /coded_by="XM_047432707.1:530..3673"
                     /db_xref="GeneID:54778"
                     /db_xref="HGNC:HGNC:17384"
                     /db_xref="MIM:605840"
ORIGIN      
        1 mhvfslidgs sglavlsmss niqtnmewrm slnlltwlsl vqssfnklsl kfpmsqwtpe
       61 ynelytlkvd mkseipsdap ktqeslkgil lhpepigaak sfpagvemin skvgnefshl
      121 cddsqkqeke mngnqqeqek slvvrkkrks qqagpsyvqn cvkenqgilg lrqhlgtpsd
      181 edndssfsdc lsspssslhf gdsdtvtsde dkevsvrhsq tilnaksrsh sarshkwprt
      241 etesvsgllm krpclhgssl rrlpcrkrfv knnssqrtqk qkerilmqrk krevlarrky
      301 allpssssss endlssesss ssstegeedl fvsasenhqn npavpsgsid edvvvieass
      361 tpqvtaneei nvtstdseve ivtvgesyrs rstlghsrsh wsqgssshas rpqeprnrsr
      421 istviqplrq naaevvdltv dedeptvvpt tsarmesqat sasinnsnps tseqasdtas
      481 avtssqpstv setsatltsn sttgtsigdd srrttssavt etgppamprl psccpqhspc
      541 ggssqnhhal ghphtscfqq hghhfqhhhh hhhtphpavp vspsfsdpac pverppqvqa
      601 pcgansssgt syheqqalpv dlsnsgirsh gsgsfhgasa fdpccpvsss raaifghqaa
      661 aaapsqplss idgygssmva qpqpqpppqp slsscrhymp ppyasltrpl hhqasacphs
      721 hgnpppqtqp ppqvdyviph pvhafhsqis shatshpvap pppthlasta apipqhlppt
      781 hqpishhipa tappaqrlhp hevmqrmevq rrrmmqhptr aherppphph rmhpnyghgh
      841 hihvpqtmss hprqapersa welgieagvt aatytpgalh phlahyhapp rlhhlqlgal
      901 plmvpdmagy phiryissgl dgtsfrgpfr gnfeelihle erlgnvnrga sqgtiercty
      961 phkykkvttd wfsqrklhck qdgeegteed teekcticls ileegedvrr lpcmhlfhqv
     1021 cvdqwlitnk kcpicrvdie aqlpses
//
LOCUS       XP_011520741             887 aa            linear   PRI 20-MAR-2023
DEFINITION  protein CLEC16A isoform X21 [Homo sapiens].
ACCESSION   XP_011520741
VERSION     XP_011520741.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011522439.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..887
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..887
                     /product="protein CLEC16A isoform X21"
                     /calculated_mol_wt=101134
     Region          51..198
                     /region_name="FPL"
                     /note="Uncharacterized conserved protein; pfam09758"
                     /db_xref="CDD:401635"
     Region          245..880
                     /region_name="CLEC16A_C"
                     /note="CLEC16A C-terminal; pfam19439"
                     /db_xref="CDD:437271"
     CDS             1..887
                     /gene="CLEC16A"
                     /gene_synonym="Gop-1; KIAA0350"
                     /coded_by="XM_011522439.4:155..2818"
                     /db_xref="GeneID:23274"
                     /db_xref="HGNC:HGNC:29013"
                     /db_xref="MIM:611303"
ORIGIN      
        1 mfgrsrswvg gghgktsrni hsldhlkyly hvltknttvt eqnrnllvet irsiteiliw
       61 gdqndssvfd ffleknmfvf flnilrqksg ryvcvqllqt lnilfenish etslyyllsn
      121 nyvnsiivhk fdfsdeeima yyisflktls lklnnhtvhf fynehtndfa lyteaikffn
      181 hpesmvriav rtitlnvykv sldnqamlhy irdktavpyf snlvwfigsh vielddcvqt
      241 deehrnrgkl sdlvaehldh lhylndilii nceflndvlt dhllnrlflp lyvyslenqd
      301 kggerpkisl pvslyllsqv fliihhaplv nslaevilng dlsemyakte qdiqrssakp
      361 sircfikpte tlerslemnk hkgkrrvqkr pnyknvgeee deekgpteda qedaekakgt
      421 eggskgikts geseeiemvi mersklsela astsvqeqnt tdeeksaaat csestqwsrp
      481 fldmvyhald spdddyhalf vlcllyamsh nkgmdpekle riqlpvpnaa ekttynhpla
      541 erlirimnna aqpdgkirla tlelsclllk qqvlmsagci mkdvhlacle gareesvhlv
      601 rhfykgedif ldmfedeyrs mtmkpmnvey lmmdasillp ptgtpltgid fvkrlpcgdv
      661 ektrrairvf fmlrslslql rgepetqlpl treedliktd dvldlnnsdl iactvitkdg
      721 gmvqrflavd iyqmslvepd vsrlgwgvvk fagllqdmqv tgveddsral nitihkpass
      781 phskpfpilq atfifsdhir ciiakqrlak griqarrmkm qriaalldlp iqpttevlgf
      841 glgsststqh lpfrfydqgr rgssdptvqr svfasvdkvp aaeylpr
//
LOCUS       XP_047289846             502 aa            linear   PRI 20-MAR-2023
DEFINITION  N-acetylgalactosamine-6-sulfatase isoform X5 [Homo sapiens].
ACCESSION   XP_047289846
VERSION     XP_047289846.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433890.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..502
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..502
                     /product="N-acetylgalactosamine-6-sulfatase isoform X5"
                     /calculated_mol_wt=55724
     Region          30..494
                     /region_name="GALNS"
                     /note="galactosamine-6-sulfatase; also known as
                     N-acetylgalactosamine-6-sulfatase (GALNS); cd16157"
                     /db_xref="CDD:293776"
     Site            order(39..40,79,108,140,142,165,236,288..289,310..311)
                     /site_type="active"
                     /db_xref="CDD:293776"
     Site            order(43,48..50,52..54,68,70,250..252,337,420..424,443,
                     445..446,451..452)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:293776"
     Site            order(79,108,140,142,165,236,310..311)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:293776"
     CDS             1..502
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /coded_by="XM_047433890.1:71..1579"
                     /db_xref="GeneID:2588"
                     /db_xref="HGNC:HGNC:4122"
                     /db_xref="MIM:612222"
ORIGIN      
        1 maavvaatrw wqlllvlsaa gmgasgapqp pnillllmdd mgwgdlgvyg epsretpnld
       61 rmaaegllfp nfysanplcs psraalltgr lpirngfytt naharnaytp qeivggipds
      121 eqllpellkk agyvskivgk whlghrpqfh plkhgfdewf gspnchfgpy dnkarpnipv
      181 yrdwemvgry yeefpinlkt geanltqiyl qealdfikrq arhhpfflyw avdathapvy
      241 askpflgtsq rgrygdavre iddsigkile llqdlhvadn tfvfftsdng aalisapeqg
      301 gsngpflcgk qttfeggmre palawwpghv tagqvshqlg simdlfttsl alagltppsd
      361 raidglnllp tllqgrlmdr pifyyrgdtl maatlgqhka hfwtwtnswe nfrqgidfcp
      421 gqnvsgvtth nledhtklpl ifhlgrdpge rfplsfasae yqealsrits vvqqhqealv
      481 paqpqlnvcn wavmpqrpsh qt
//
LOCUS       XP_005257217            2961 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleosome-remodeling factor subunit BPTF isoform X26 [Homo
            sapiens].
ACCESSION   XP_005257217
VERSION     XP_005257217.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005257160.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2961
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..2961
                     /product="nucleosome-remodeling factor subunit BPTF
                     isoform X26"
                     /calculated_mol_wt=328810
     Region          240..299
                     /region_name="DDT"
                     /note="domain in different transcription and chromosome
                     remodeling factors; smart00571"
                     /db_xref="CDD:214726"
     Region          392..434
                     /region_name="PHD1_BPTF"
                     /note="PHD finger 1 found in bromodomain and PHD
                     finger-containing transcription factor (BPTF); cd15559"
                     /db_xref="CDD:277034"
     Site            order(392,401..405,409,429)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277034"
     Region          456..522
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          <2120..2500
                     /region_name="Glutenin_hmw"
                     /note="High molecular weight glutenin subunit; pfam03157"
                     /db_xref="CDD:367362"
     Region          2545..2775
                     /region_name="TNG2"
                     /note="Chromatin remodeling protein, contains PhD zinc
                     finger [Chromatin structure and dynamics]; COG5034"
                     /db_xref="CDD:227367"
     Region          2726..2772
                     /region_name="PHD2_3_BPTF"
                     /note="PHD finger 2 and 3 found in bromodomain and PHD
                     finger-containing transcription factor (BPTF); cd15560"
                     /db_xref="CDD:277035"
     Site            order(2726,2733,2735,2738..2743,2746,2748,2758,2761,
                     2764..2765)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:277035"
     Region          2784..2830
                     /region_name="PHD2_3_BPTF"
                     /note="PHD finger 2 and 3 found in bromodomain and PHD
                     finger-containing transcription factor (BPTF); cd15560"
                     /db_xref="CDD:277035"
     Site            order(2784,2791,2793,2796..2801,2804,2806,2816,2819,
                     2822..2823)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:277035"
     Region          2846..2946
                     /region_name="Bromo_gcn5_like"
                     /note="Bromodomain; Gcn5_like subfamily. Gcn5p is a
                     histone acetyltransferase (HAT) which mediates acetylation
                     of histones at lysine residues; such acetylation is
                     generally correlated with the activation of transcription.
                     Bromodomains are 110 amino acid long...; cd05509"
                     /db_xref="CDD:99941"
     Site            order(2871,2876,2879,2918,2922,2928)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99941"
     CDS             1..2961
                     /gene="BPTF"
                     /gene_synonym="FAC1; FALZ; NEDDFL; NURF301"
                     /coded_by="XM_005257160.3:223..9108"
                     /db_xref="GeneID:2186"
                     /db_xref="HGNC:HGNC:3581"
                     /db_xref="MIM:601819"
ORIGIN      
        1 mrgrrgrppk qpaapaaerc apappppppp ptsgpigglr srhrgssrgr waaaqaevap
       61 ktrlssprgg sssrrkpppp ppappstsap grggrggggg rtgggggggh larttaarra
      121 vnkvvyddhe seeeeeeedm vseeeeeedg daeetqdsed deedemeedd ddsdypeeme
      181 dddddasyct essfrshsty sstpgrrkpr vhrprspile ekdipplefp kssedlmvpn
      241 ehimnviaiy evlrnfgtvl rlspfrfedf caalvsqeqc tlmaemhvvl lkavlreedt
      301 snttfgpadl kdsvnstlyf idgmtwpevl rvycesdkey hhvlpyqeae dypygpvenk
      361 ikvlqflvdq flttniaree lmsegviqyd dhcrvchklg dllccetcsa vyhlecvkpp
      421 leevpedewq cevcvahkvp gvtdcvaeiq knkpyirhep igydrsrrky wflnrrliie
      481 edtenenekk iwyystkvql aelidcldkd yweaelckil eemreeihrh mditedltnk
      541 argsnksfla aaneeilesi rakkgdidnv kspeetekdk netendskda eknreefedq
      601 slekdsddkt pdddpeqgks eeptevgdkg nsvsanlgdn ttnatseets psegrspvgc
      661 lsetpdssnm aekkvaselp qdvpeepnkt cessntsatt tsiqpnlens nssselnssq
      721 sesakaaddp engereshtp vsiqeeivgd fkseksngel sespgagkga sgstriitrl
      781 rnpdsklsql ksqqvaaaah eanklfkegk evlvvnsqge isrlstkkev imkgninnyf
      841 klgqegkyrv yhnqystnsf alnkhqhred hdkrrhlahk fcltpagefk wngsvhgskv
      901 ltistlrlti tqlennipss flhpnwashr anwikavqmc skprefalal ailecavkpv
      961 vmlpiwresl ghtrlhrmts iereekekvk kkekkqeeee tmqqatwvky tfpvkhqvwk
     1021 qkgeeyrvtg yggwswiskt hvyrfvpklp gntnvnyrks legtknnmde nmdesdkrkc
     1081 srspkkikie pdsekdevkg sdaakgadqn emdiskitek kdqdvkelld sdsdkpckee
     1141 pmevdddmkt eshvncqess qvdvvnvseg fhlrtsykkk tksskldgll errikqftle
     1201 ekqrlekikl eggikgigkt stnssknlse spvitkakeg cqsdsmrqeq spnanndqpe
     1261 dliqgcsesd ssvlrmsdps httnklypkd rvlddvsirs petkcpkqns iendieekvs
     1321 dlasrgqeps ksktkgndff iddsklasad digtlicknk kpliqeesdt ivsssksalh
     1381 ssvpkstndr datplsramd fegklgcdse snstlenssd tvsiqdssee dmivqnsnes
     1441 iseqfrtreq dvevleplkc elvsgestgn cedrlpvkgt eangkkpsqq kkleerpvnk
     1501 csdqiklknt tdkknnenre sekkgqrtst fqingkdnkp kiylkgeclk eisesrvvsg
     1561 nvepkvnnin kiipendiks ltvkesairp fingdvimed fnernssetk shllsssdae
     1621 gnyrdsletl pstkesdstq tttpsascpe snsvnqvedm eietsevkkv tsspitseee
     1681 snlsndfide nglpinknen vngeskrktv itevttmtst vatesktvik vekgdkqtvv
     1741 sstencakst vttttttvtk lstpstggsv diisvkeqsk tvvtttvtds ltttggtlvt
     1801 smtvskeyst rdkvklmkfs rpkktrsgta lpsyrkfvtk sskksifvlp nddlkklark
     1861 ggirevpyfn ynakpaldiw pypsprptfg itwryrlqtv kslagvslml rllwaslrwd
     1921 dmaakappgg gttrtetset eittteiikr rdvgpygirs eycirkiicp igvpetpket
     1981 ptpqrkglrs salrpkrpet pkqtgpviie twvaeeelel weirafaerv ekekaqaveq
     2041 qakkrleqqk ptviatstts ptssttstis paqkvmvapi sgsvttgtkm vlttkvgspa
     2101 tvtfqqnknf hqtfatwvkq gqsnsgvvqv qqkvlgiips stgtsqqtft sfqprtatvt
     2161 irpntsgsgg ttsnsqvitg pqirpgmtvi rtplqqstlg kaiirtpvmv qpgapqqvmt
     2221 qiirgqpvst avsapntvss tpgqksltsa tstsniqssa sqpprpqqgq vkltmaqltq
     2281 ltqghggnqg ltvviqgqgq ttgqlqlipq gvtvlpgpgq qlmqaampng tvqrflftpl
     2341 attattastt tttvsttaag tgeqrqskls pqmqvhqdkt lppaqsssvg paeaqpqtaq
     2401 psaqpqpqtq pqspaqpevq tqpevqtqtt vsshvpseaq pthaqsskpq vaaqsqpqsn
     2461 vqgqspvrvq spsqtrirps tpsqlspgqq sqvqtttsqp ipiqphtslq ipsqgqpqsq
     2521 pqvvmkhnav iehlkqkksm tpaereenqr mivcnqvmky ildkidkeek qaakkrkree
     2581 sveqkrskqn atklsallfk hkeqlraeil kkralldkdl qievqeelkr dlkikkekdl
     2641 mqlaqatava apcppvtpap pappapppsp ppppavqhtg llstptlpaa sqkrkreeek
     2701 dssskskkkk misttsketk kdtklycick tpydeskfyi gcdlctnwyh gecvgiteke
     2761 akkmdvyicn dckraqegss eelycicrtp ydesqfyigc drcqnwyhgr cvgilqseae
     2821 lideyvcpqc qstedamtvl tpltekdyeg lkrvlrslqa hkmawpflep vdpndapdyy
     2881 gvikepmdla tmeervqrry yekltefvad mtkifdncry ynpsdspfyq caevlesffv
     2941 qklkgfkasr shnnklqsta s
//
LOCUS       XP_011523518            1004 aa            linear   PRI 20-MAR-2023
DEFINITION  caspase recruitment domain-containing protein 14 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011523518
VERSION     XP_011523518.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011525216.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1004
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1004
                     /product="caspase recruitment domain-containing protein 14
                     isoform X1"
                     /calculated_mol_wt=113139
     Region          19..104
                     /region_name="CARD_CARD14_CARMA2"
                     /note="Caspase activation and recruitment domain of
                     CARD14-like proteins; cd08806"
                     /db_xref="CDD:260068"
     Region          <151..448
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          583..655
                     /region_name="PDZ_signaling"
                     /note="PDZ domain found in a variety of Eumetazoan
                     signaling molecules, often in tandem arrangements. May be
                     responsible for specific protein-protein interactions, as
                     most PDZ domains bind C-terminal polypeptides, and binding
                     to internal (non-C-terminal)...; cd00992"
                     /db_xref="CDD:238492"
     Region          680..742
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:450141"
     Site            order(685,687,690,694,714..715,736,738..739)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212690"
     Region          <858..961
                     /region_name="NK"
                     /note="Nucleoside/nucleotide kinase (NK) is a protein
                     superfamily consisting of multiple families of enzymes
                     that share structural similarity and are functionally
                     related to the catalysis of the reversible phosphate group
                     transfer from nucleoside triphosphates...; cl17190"
                     /db_xref="CDD:450170"
     CDS             1..1004
                     /gene="CARD14"
                     /gene_synonym="BIMP2; CARMA2; PRP; PSORS2; PSS1"
                     /coded_by="XM_011525216.2:196..3210"
                     /db_xref="GeneID:79092"
                     /db_xref="HGNC:HGNC:16446"
                     /db_xref="MIM:607211"
ORIGIN      
        1 mgelcrrdsa ltaldeetlw emmeshrhri vrcicpsrlt pylrqakvlc qldeeevlhs
       61 prltnsamra ghlldllktr gkngaiafle slkfhnpdvy tlvtglqpdv dfsnfsglme
      121 tsklteclag aigslqeeln qekgqkevll rrcqqlqehl glaetraegl hqleadhsrm
      181 krevsahfhe vlrlkdemls lslhysnalq ekelaasrcr slqeelyllk qelqranmvs
      241 scelelqeqs lrtasdqesg deelnrlkee neklrsltfs laekdileqs ldeargsrqe
      301 lverihslre ravaaerqre qyweekeqtl lqfqkskmac qlyrekvnal qaqvcelqke
      361 rdqaysards aqreisqslv ekdslrrqvf eltdqvcelr tqlrqlqaep pgvlkqeart
      421 repcprekqr lvrmhaicpr ddsdcslvss tesqllsdls atssrelvds frssspapps
      481 qqslykrvae dfgeepwsfs scleipegdp galpgakagd phldyelldt adlpqlessl
      541 qpvspgrldv sesgvlmrrr parrilsqvt mlafqgdall eqisviggnl tgifihrvtp
      601 gsaadqmalr pgtqivmvdy easeplfkav ledttleeav gllrrvdgfc clsvkvntdg
      661 ykrllqdlea kvatsgdsfy irvnlamegr akgelqvhcn evlhvtdtmf qgcgcwhahr
      721 vnsytmkdta ahgtipnysr aqqqlialiq dmtqqctvtr kpssggpqkl vrivsmdkak
      781 asplrlsfdr gqldpsrmeg sstcfwaesc ltlvpytlvr phrparprpv llvpravgki
      841 lseklcllqg fkkclaeyls qeeyeawsqr gdiiqegevs ggrcwvtrha veslmeknth
      901 alldvqldsv ctlhrmdifp ivihvsvnek makklkkglq rlgtseeqll eaarqeegdl
      961 drapclyssl apdgwsdldg llscvrqaia deqkkvvwte qspr
//
LOCUS       XP_047294075             205 aa            linear   PRI 20-MAR-2023
DEFINITION  coatomer subunit epsilon isoform X2 [Homo sapiens].
ACCESSION   XP_047294075
VERSION     XP_047294075.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438119.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..205
                     /product="coatomer subunit epsilon isoform X2"
                     /calculated_mol_wt=22956
     Region          17..202
                     /region_name="Coatomer_E"
                     /note="Coatomer epsilon subunit; pfam04733"
                     /db_xref="CDD:398419"
     CDS             1..205
                     /gene="COPE"
                     /gene_synonym="epsilon-COP"
                     /coded_by="XM_047438119.1:40..657"
                     /db_xref="GeneID:11316"
                     /db_xref="HGNC:HGNC:2234"
                     /db_xref="MIM:606942"
ORIGIN      
        1 mappapgpas ggsgevdelf dvknafyigs yqqcineaqr vklssperdv erdvflyray
       61 laqrkfgvvl deikpssape lqavrmfady lahesrstam tvqillkldr ldlarkelkr
      121 mqdldedatl tqlatawvsl atdsgypetl vnlivlsqhl gkppevtnry lsqlkdahrs
      181 hpfikeyqak endfdrlvlq yapsa
//
LOCUS       XP_047294236             381 aa            linear   PRI 20-MAR-2023
DEFINITION  cytochrome P450 2F1 isoform X1 [Homo sapiens].
ACCESSION   XP_047294236
VERSION     XP_047294236.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047438280.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..381
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..381
                     /product="cytochrome P450 2F1 isoform X1"
                     /calculated_mol_wt=42881
     Region          62..376
                     /region_name="cytochrome_P450"
                     /note="cytochrome P450 (CYP) superfamily; cl41757"
                     /db_xref="CDD:425388"
     CDS             1..381
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /coded_by="XM_047438280.1:73..1218"
                     /db_xref="GeneID:1572"
                     /db_xref="HGNC:HGNC:2632"
                     /db_xref="MIM:124070"
ORIGIN      
        1 mdsistaill lllalvclll tlssrdkgkl ppgprplsil gnllllcsqd mltsltklsk
       61 eygsmytvhl gprrvvvlsg yqavkealvd qgeefsgrgd ypaffnftkg ngiafssgdr
      121 wkvlrqfsiq ilrnfgmgkr sieerileeg sfllaelrkt egepfdptfv lsrsvsniic
      181 svlfgsrfdy dderlltiir lindnfqims spwgelydif pslldwvpgp hqrifqnfkc
      241 lrdliahsvh dhqasldprs prdfiqcflt kmaeekedpl shfhmdtllm tthnllfggt
      301 ktvsttlhha flalmkypkv qgrrlclges larmelflyl tailqsfslq plgapedidl
      361 tplssglgnl prpfqlclrp r
//
LOCUS       XP_011508874            1132 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-4(IV) chain isoform X14 [Homo sapiens].
ACCESSION   XP_011508874
VERSION     XP_011508874.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011510572.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1132
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1132
                     /product="collagen alpha-4(IV) chain isoform X14"
                     /calculated_mol_wt=110346
     Region          <8..>317
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <202..>453
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <535..>661
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <760..>876
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          908..1012
                     /region_name="C4"
                     /note="C-terminal tandem repeated domain in type 4
                     procollagen; pfam01413"
                     /db_xref="CDD:426251"
     Region          1016..1128
                     /region_name="C4"
                     /note="C-terminal tandem repeated domain in type 4
                     procollagen; pfam01413"
                     /db_xref="CDD:426251"
     CDS             1..1132
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; CA44"
                     /coded_by="XM_011510572.4:228..3626"
                     /db_xref="GeneID:1286"
                     /db_xref="HGNC:HGNC:2206"
                     /db_xref="MIM:120131"
ORIGIN      
        1 mvvsrvkghk gergpdgppg fpgqpgshgr dghagekgdp gppgdhedat pggkgfpgpl
       61 gppgkagpvg ppglgfpgpp gerghpgvpg hpgvrgpdgl kgqkgdtisc nvtypgrhgp
      121 pgfdgppgpk gfpgpqgapg lsgsdghkgr pgtpgtaeip gppgfrgdmg dpgfggekgs
      181 spvgppgppg spgvngqkgi pgdpafghlg ppgkrglsgv pgikgprgdp gcpgaegpag
      241 ipgflglkgp kgreghagfp gvpgppghsc ergapgipgq pglpgypgsp gapggkgqpg
      301 dvgppgpagm kglpglpgrp gahgppglpg ipgpfgddgl pgppgpkgpr glpgfpgfpg
      361 ergkpgaegc pgakgepgek gmsglpgdrg lrgakgaigp pgdegemaii sqkgtpgepg
      421 ppgddgfpge rgdkgtpgmq grrgepgryg ppgfhrgepg ekgqpgppgp pgppgstglr
      481 gfigfpglpg dqgepgspgp pgfsgidgar gpkgnkgdpa shfgppgpkg epgspgcpgh
      541 fgasgeqglp giqgprgspg rpgppgssgp pgcpgdhgmp glrgqpgemg dpgprglqgd
      601 pgipgppgik gpsgspglng lhglkgqkgt kgasglhdvg ppgpvgipgl kgergdpgsp
      661 gisppgprgk kgppgppgss gppgpagatg rapkdipdpg ppgdqgppgp dgprgapgpp
      721 glpgsvdllr gepgdcglpg ppgppgppgp pgykgfpgcd gkdgqkgpvg fpgpqgphgf
      781 pgppgekglp gppgrkgptg lpgprgepgp padvddcpri pglpgapgmr gpegamglpg
      841 mrgpsgpgck gepgldgrrg vdgvpgspgp pgrkgdtged gypggpgppg pigdpgpkgf
      901 gpgylggfll vlhsqtdqep tcplgmprlw tgysllyleg qekahnqdlg lagsclpvfs
      961 tlpfaycnih qvchyaqrnd rsywlasaap lpmmplseea irpyvsrcav ceapaqavav
     1021 hsqdqsippc pqtwrslwig ysflmhtgag dqgggqalms pgscledfra apflecqgrq
     1081 gtchffanky sfwlttvkad lqfssapapd tlkesqaqrq kisrcqvcvk ys
//
LOCUS       XP_011531032             252 aa            linear   PRI 20-MAR-2023
DEFINITION  3-hydroxyanthranilate 3,4-dioxygenase isoform X2 [Homo sapiens].
ACCESSION   XP_011531032
VERSION     XP_011531032.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011532730.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..252
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..252
                     /product="3-hydroxyanthranilate 3,4-dioxygenase isoform
                     X2"
                     /calculated_mol_wt=28377
     Region          1..125
                     /region_name="cupin_HAO"
                     /note="3-Hydroxyanthranilate-3,4-dioxygenase, cupin
                     domain; cd06123"
                     /db_xref="CDD:380378"
     Site            order(13,19,57,71)
                     /site_type="active"
                     /db_xref="CDD:380378"
     Site            order(18,20,42,45..49,70,72)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:380378"
     Region          175..>226
                     /region_name="cupin_RmlC-like"
                     /note="RmlC-like cupin superfamily; cl40423"
                     /db_xref="CDD:454753"
     CDS             1..252
                     /gene="HAAO"
                     /gene_synonym="3-HAO; h3HAO; HAO; VCRL1"
                     /coded_by="XM_011532730.4:309..1067"
                     /db_xref="GeneID:23498"
                     /db_xref="HGNC:HGNC:4796"
                     /db_xref="MIM:604521"
ORIGIN      
        1 mfiggpntrk dyhieegeev fyqlegdmvl rvleqgkhrd vvirqgeifl lparvphspq
       61 rfantvglvv errrleteld glryyvgdtm dvlfekwfyc kdlgtqlapi iqeffsseqy
      121 rtgkpipdql lkeppfplst rsimepmsld awldshhrel qagtplslfg dtyetqviay
      181 gqgsseglrq nvdvwlwqle gssvvtmggr rlslapddsl lvlagtsyaw ertqgsvals
      241 vtqdpackkp lg
//
LOCUS       XP_047301648             454 aa            linear   PRI 20-MAR-2023
DEFINITION  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X2 [Homo
            sapiens].
ACCESSION   XP_047301648
VERSION     XP_047301648.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445692.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..454
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..454
                     /product="D-2-hydroxyglutarate dehydrogenase,
                     mitochondrial isoform X2"
                     /calculated_mol_wt=48136
     CDS             1..454
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /coded_by="XM_047445692.1:159..1523"
                     /db_xref="GeneID:728294"
                     /db_xref="HGNC:HGNC:28358"
                     /db_xref="MIM:609186"
ORIGIN      
        1 mlprrplawp awllrgapga agswgrpvgp larrgccsap gtpevpltre rypvrrlpfs
       61 tvskqdlaaf erivpggvvt dpealqapnv dwlrtlrgcs kvllrprtse evshilrhch
      121 ernlavnpqg gntgmvggsv pvfdeiilst armnrvlsfh svsgilvcqa gcvleelsry
      181 veerdfimpl dlgakgschi ggnvatnagg lrflrygslh gtvlglevvl adgtvldclt
      241 slrkdntgyd lkqlfigseg tlgiittvsi lcppkpravn vaflgflcsa liplqlqspv
      301 crppvvlgar gqpgcrillf alqvsdrshs plratptskp ggtgpvrmvl vslvlvgsvq
      361 lsrapvspgs cspaagatsd eallshflgi pahseqdaqs pppdpptppp pptpqpstrl
      421 qphpdmvlgs qalrcscvtq crccvvlrrl plli
//
LOCUS       XP_047302202             562 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-dependent multivitamin transporter isoform X3 [Homo
            sapiens].
ACCESSION   XP_047302202
VERSION     XP_047302202.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446246.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..562
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..562
                     /product="sodium-dependent multivitamin transporter
                     isoform X3"
                     /calculated_mol_wt=60322
     Region          24..515
                     /region_name="SLC5-6-like_sbd"
                     /note="Solute carrier families 5 and 6-like; solute
                     binding domain; cl00456"
                     /db_xref="CDD:444915"
     Site            order(77,80,362,365..366)
                     /site_type="other"
                     /note="Na binding site [ion binding]"
                     /db_xref="CDD:271356"
     CDS             1..562
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; NERIB; SMVT; SMVTD"
                     /coded_by="XM_047446246.1:444..2132"
                     /db_xref="GeneID:8884"
                     /db_xref="HGNC:HGNC:11041"
                     /db_xref="MIM:604024"
ORIGIN      
        1 msvgvstsap lsptsgtsvg mstfsimdyv vfvlllvlsl aiglyhacrg wgrhtvgell
       61 madrkmgclp valsllatfq savailgvps eiyrfgtqyw flgccyflgl lipahifipv
      121 fyrlhltsay eylelrfnkt vrvcgtvtfi fqmviymgvv lyapslalna vtgfdlwlsv
      181 lalgivctvy talgglkavi wtdvfqtlvm flgqlaviiv gsakvgglgr vwavasqhgr
      241 isgfeldpdp fvrhtfwtla fggvfmmlsl ygvnqaqvqr ylssrtekaa vlscyavfpf
      301 qqvslcvgcl iglvmfayyq eypmsiqqaq aapdqfvlyf vmdllkglpg lpglfiaclf
      361 sgslstissa fnslatvtme dlirpwfpef searaimlsr glafgygllc lgmayissqm
      421 gpvlqaaisi fgmvggpllg lfclgmffpc anppgavvgl laglvmafwi gigsivtsmg
      481 ssmppspsng ssfslptnlt vatvttlmpl ttfskenarp vpepcnhlps vakapvppsv
      541 vlseaaplqe lrpgpprhwp vs
//
LOCUS       XP_047302220             304 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 74A isoform X11 [Homo
            sapiens].
ACCESSION   XP_047302220
VERSION     XP_047302220.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047446264.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..304
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..304
                     /product="coiled-coil domain-containing protein 74A
                     isoform X11"
                     /calculated_mol_wt=32461
     Region          47..142
                     /region_name="CCDC92"
                     /note="Coiled-coil domain of unknown function; pfam14916"
                     /db_xref="CDD:434311"
     CDS             1..304
                     /gene="CCDC74A"
                     /coded_by="XM_047446264.1:84..998"
                     /db_xref="GeneID:90557"
                     /db_xref="HGNC:HGNC:25197"
ORIGIN      
        1 msgagvaagt rppssptpgs rrrrqrpsvg vqslrpqspq lrqsdpqkrn ldlekslqfl
       61 qqqhsemlak lheeiehlkr enkgepargp rpalppqahs tlplpqhrnt ainsstrlgs
      121 ggtqddlhyk limnqtsqkk dgpsgnhlsr asaplgarwv cingvwvepg gpsparlkeg
      181 ssrthrpggk rgrlaggsad tvrspadsls mssfqsvksi snsvtglvgs dlqptlkarp
      241 gpspapstsk iqkltsprrr twkrspyftt aswtkflgyk grpaaapqvp pgrepeapgs
      301 pggs
//
LOCUS       XP_047296194             361 aa            linear   PRI 20-MAR-2023
DEFINITION  uridine-cytidine kinase-like 1 isoform X17 [Homo sapiens].
ACCESSION   XP_047296194
VERSION     XP_047296194.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440238.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..361
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..361
                     /product="uridine-cytidine kinase-like 1 isoform X17"
                     /calculated_mol_wt=39948
     Region          101..307
                     /region_name="UMPK"
                     /note="Uridine monophosphate kinase (UMPK, EC 2.7.1.48),
                     also known as uridine kinase or uridine-cytidine kinase
                     (UCK), catalyzes the reversible phosphoryl transfer from
                     ATP to uridine or cytidine to yield UMP or CMP. In the
                     primidine nucleotide-salvage pathway; cd02023"
                     /db_xref="CDD:238981"
     Site            order(112,244,292)
                     /site_type="other"
                     /note="ATP-binding site [chemical binding]"
                     /db_xref="CDD:238981"
     Site            order(133,165,245)
                     /site_type="active"
                     /note="Sugar specificity [active]"
                     /db_xref="CDD:238981"
     Site            order(136,162,191,193,196,253)
                     /site_type="active"
                     /note="Pyrimidine base specificity [active]"
                     /db_xref="CDD:238981"
     CDS             1..361
                     /gene="UCKL1"
                     /gene_synonym="UCK1L; URKL1"
                     /coded_by="XM_047440238.1:45..1130"
                     /db_xref="GeneID:54963"
                     /db_xref="HGNC:HGNC:15938"
                     /db_xref="MIM:610866"
ORIGIN      
        1 maapparada dpsptsppta rdtpgrqaek setacedrsn aesldrllpp vgtgrsprkr
       61 ttsqcksepp llrtskrtiy tagrppwyne hgtqskeafa iglgggsasg kttvarmiie
      121 aldvpwvvll smdsfykllh slphqvlteq qqeqaahnnf nfdhpdafdf dliistlkkl
      181 kqgksvkvpi ydftthsrkk dwktlyganv iifegimafa dktllelldm kifvdtdsdi
      241 rlvrrlrrdi sergrdiegv ikqynkfvkp sfdqyiqptm rladivvprg sgntvaidli
      301 vqhvhsqlee gvtpgatppp evpcslrhsm agpwslsgse htpyqdvegl rpaeqspgsw
      361 l
//
LOCUS       XP_047296484             535 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 2, facilitated glucose transporter member 10
            isoform X3 [Homo sapiens].
ACCESSION   XP_047296484
VERSION     XP_047296484.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440528.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..535
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..535
                     /product="solute carrier family 2, facilitated glucose
                     transporter member 10 isoform X3"
                     /calculated_mol_wt=56001
     Region          31..>337
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     CDS             1..535
                     /gene="SLC2A10"
                     /gene_synonym="ATORS; ATS; GLUT10"
                     /coded_by="XM_047440528.1:168..1775"
                     /db_xref="GeneID:81031"
                     /db_xref="HGNC:HGNC:13444"
                     /db_xref="MIM:606145"
ORIGIN      
        1 mshsqdrtld llsqpqaapl pvchsppvlp lcasvsllgg ltfgyelavi sgallplqld
       61 fglscleqef lvgslllgal laslvggfli dcygrkqail gsnlvllags ltlglagsla
      121 wlvlgravvg faislssmac ciyvselvgp rqrgvlvsly eagitvgill syalnyalag
      181 tpwgwrhmfg watapavlqs lsllflpagt detathkdli plqggeapkl gpgrprysfl
      241 dlfrardnmr grttvglglv lfqqltgqpn vlcyastifs svgfhggssa vlasvglgav
      301 kvaatltamg lvdragrral llagcalmal svsgiglvsf avpmdsgpsc lavpnatgqt
      361 glpgdsgllq dsslppiprt nedqrepils takktkphpr sgdpsapprl alssalpgpp
      421 lparghallr wtallclmvf vsafsfgfgp gprshhspga lllshpsdla cpqrdlpcgd
      481 trkslrllqq lqlggqplhq pllprshwhh rlvldlpalr tdrcprpglh lfics
//
LOCUS       XP_047296607             565 aa            linear   PRI 20-MAR-2023
DEFINITION  cystathionine beta-synthase isoform X2 [Homo sapiens].
ACCESSION   XP_047296607
VERSION     XP_047296607.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440651.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000021.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..565
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
     Protein         1..565
                     /product="cystathionine beta-synthase isoform X2"
                     /calculated_mol_wt=61732
     Region          76..558
                     /region_name="cysta_beta"
                     /note="cystathionine beta-synthase; TIGR01137"
                     /db_xref="CDD:273464"
     CDS             1..565
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /coded_by="XM_047440651.1:329..2026"
                     /db_xref="GeneID:102724560"
ORIGIN      
        1 mpsetpqaev gptgcphrsg phsakgslek gspedkeake plwirpdaps rctwqlgrpa
       61 sesphhhtap akspkilpdi lkkigdtpmv rinkigkkfg lkcellakce ffnaggsvkd
      121 rislrmieda erdgtlkpgd tiieptsgnt giglalaaav rgyrciivmp ekmssekvdv
      181 lralgaeivr tptnarfdsp eshvgvawrl kneipnshil dqyrnasnpl ahydttadei
      241 lqqcdgkldm lvasvgtggt itgiarklke kcpgcriigv dpegsilaep eelnqteqtt
      301 yevegigydf iptvldrtvv dkwfksndee aftfarmlia qegllcggsa gstvavavka
      361 aqelqegqrc vvilpdsvrn ymtkflsdrw mlqkgflkee dltekkpwww hlrvqelgls
      421 apltvlptit cghtieilre kgfdqapvvd eagvilgmvt lgnmlsslla gkvqpsdqvg
      481 kviykqfkqi rltdtlgrls hilemdhfal vvheqiqsqd qawagvvggp adhstgkssq
      541 rqmvfgvvta idllnfvaaq erdqk
//
LOCUS       XP_006724489             652 aa            linear   PRI 20-MAR-2023
DEFINITION  lipase maturation factor 2 isoform X1 [Homo sapiens].
ACCESSION   XP_006724489
VERSION     XP_006724489.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006724426.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000022.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..652
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
     Protein         1..652
                     /product="lipase maturation factor 2 isoform X1"
                     /calculated_mol_wt=71031
     Region          <26..>159
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     Region          142..531
                     /region_name="LMF1"
                     /note="Lipase maturation factor; pfam06762"
                     /db_xref="CDD:429107"
     CDS             1..652
                     /gene="LMF2"
                     /gene_synonym="TMEM112B; TMEM153"
                     /coded_by="XM_006724426.4:654..2612"
                     /db_xref="GeneID:91289"
                     /db_xref="HGNC:HGNC:25096"
ORIGIN      
        1 mpshrpvwpr ghptckedaa asgqgalaaa vgdpdaavgs aetgaghgpg pgaaepagct
       61 sgpgspaaep tappchllaa lgrlpvslpg gpgvplfpvg lpaardwlpg raggpaeasl
      121 ppqggppgqa grgpaprrpp llaaltyhye tqclptpaaw fahhlpvwlh klsvvatfli
      181 eiavpplffa pirrlrlaaf ysqvllqvli iitgnynffn lmtlvlttal lddqhlaaep
      241 ghgsrkktat swpkallatl slllelavyg llaygtvhyf glevdwqqrt ihsrttftfh
      301 qfsqwlktlt lptvwlgvas lvwellsalw rwtqvrgwlr klsavvqlsl vgtatvalfl
      361 islvpysyve pgthgrlwtg ahrlfgaveh lqlansyglf rrmtglggrp evvlegsydg
      421 hhwteiefmy kpgnlsrppp vvvphqprld wqmwfaalgp hthspwftsl vlrllqgkep
      481 virlvqsqva rypfhkqppt yvraqrykyw fsqpgeqgqw wrrqwveeff psvslgdptl
      541 etllrqfglq ekspprtrsa nstlaqalhw trsqlsplea pallwgllma vgavrfvqal
      601 lapcslrssp lapvsgekrr pasqkdsgaa seqataapnp cssssrttrr kk
//
LOCUS       XP_047303517             895 aa            linear   PRI 20-MAR-2023
DEFINITION  dystroglycan 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047303517
VERSION     XP_047303517.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447561.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..895
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..895
                     /product="dystroglycan 1 isoform X1"
                     /calculated_mol_wt=97311
     Region          62..163
                     /region_name="Dystroglycan_repeat"
                     /note="Cadherin-like repeat domain of alpha dystroglycan;
                     cd11303"
                     /db_xref="CDD:206636"
     Region          182..304
                     /region_name="a_DG1_N2"
                     /note="Alpha-Dystroglycan N-terminal domain 2; pfam18424"
                     /db_xref="CDD:436491"
     Site            order(199..200,204..205,207..208,211,222..228)
                     /site_type="other"
                     /note="CA-like domain interface [polypeptide binding]"
                     /db_xref="CDD:206765"
     Region          <303..>404
                     /region_name="PRK14971"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237874"
     Region          498..602
                     /region_name="Dystroglycan_repeat"
                     /note="Cadherin-like repeat domain of alpha dystroglycan;
                     cd11303"
                     /db_xref="CDD:206636"
     Region          606..895
                     /region_name="DAG1"
                     /note="Dystroglycan (Dystrophin-associated glycoprotein
                     1); pfam05454"
                     /db_xref="CDD:428478"
     CDS             1..895
                     /gene="DAG1"
                     /gene_synonym="156DAG; A3a; AGRNR; DAG; LGMDR16; MDDGA9;
                     MDDGC7; MDDGC9"
                     /coded_by="XM_047447561.1:623..3310"
                     /db_xref="GeneID:1605"
                     /db_xref="HGNC:HGNC:2666"
                     /db_xref="MIM:128239"
ORIGIN      
        1 mrmsvglsll lplsgrtfll llsvvmaqsh wpsepseavr dwenqleasm hsvlsdlhea
       61 vptvvgipdg tavvgrsfrv tiptdliass gdiikvsaag kealpswlhw dsqshtlegl
      121 pldtdkgvhy isvsatrlga ngshipqtss vfsievyped hselqsvrta spdpgevvss
      181 acaadepvtv ltvildadlt kmtpkqridl lhrmrsfsev elhnmklvpv vnnrlfdmsa
      241 fmagpgnakk vvengallsw klgcslnqns vpdihgveap aregamsaql gypvvgwhia
      301 nkkpplpkrv rrqihatptp vtaigpptta iqeppsrivp tptspaiapp tetmappvrd
      361 pvpgkptvti rtrgaiiqtp tlgpiqptrv seagttvpgq irptmtipgy veptavatpp
      421 ttttkkprvs tpkpatpstd stttttrrpt kkprtprpvp rvttkvsitr letaspptri
      481 rtttsgvprg gepnqrpelk nhidrvdawv gtyfevkips dtfydhedtt tdklkltlkl
      541 reqqlvgeks wvqfnsnsql myglpdsshv gkheyfmhat dkgglsavda feihvhrrpq
      601 gdraparfka kfvgdpalvl ndihkkialv kklafafgdr ncstitlqni trgsivvewt
      661 nntlplepcp keqiaglsrr iaeddgkprp afsnalepdf katsitvtgs gscrhlqfip
      721 vvpprrvpse apptevpdrd peksseddvy lhtvipavvv aailliagii amicyrkkrk
      781 gkltledqat fikkgvpiif adelddskpp psssmplilq eekaplpppe ypnqsvpett
      841 plnqdtmgey tplrdedpna ppyqppppft apmegkgsrp knmtpyrspp pyvpp
//
LOCUS       XP_011532128             269 aa            linear   PRI 20-MAR-2023
DEFINITION  PHD finger protein 7 isoform X3 [Homo sapiens].
ACCESSION   XP_011532128
VERSION     XP_011532128.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011533826.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..269
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..269
                     /product="PHD finger protein 7 isoform X3"
                     /calculated_mol_wt=30964
     Region          33..144
                     /region_name="ePHD_PHF7_G2E3_like"
                     /note="Extended PHD finger found in PHD finger protein 7
                     (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase
                     (G2E3); cd15669"
                     /db_xref="CDD:277139"
     Site            order(97,106..110,116,139)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277139"
     CDS             1..269
                     /gene="PHF7"
                     /gene_synonym="HSPC045; HSPC226; NYD-SP6"
                     /coded_by="XM_011533826.4:658..1467"
                     /db_xref="GeneID:51533"
                     /db_xref="HGNC:HGNC:18458"
                     /db_xref="MIM:620057"
ORIGIN      
        1 mktvkekkec qrlrksaktr rvtqrkpssg pvcwlclrep gdpeklgefl qkdnisvhyf
       61 clilssklpq rgqsnrgfhg flpedikkea arasrkicfv ckkkgaainc qkdqclrnfh
      121 lpcgqergcl sqffgeyksf cdkhrptqni qhghvgeesc ilccedlsqq sveniqspcc
      181 sqaiyhrkci qkyahtsakh ffkcpqcnnr kefpqemlrm gihipdrdaa welepgafsd
      241 lyqryqhcda piclyeqgrd sfedeglht
//
LOCUS       XP_011530205              96 aa            linear   PRI 20-MAR-2023
DEFINITION  glycophorin-B isoform X1 [Homo sapiens].
ACCESSION   XP_011530205
VERSION     XP_011530205.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011531903.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..96
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..96
                     /product="glycophorin-B isoform X1"
                     /calculated_mol_wt=10177
     Region          <43..>90
                     /region_name="Glycophorin_A"
                     /note="Glycophorin A; pfam01102"
                     /db_xref="CDD:426050"
     CDS             1..96
                     /gene="GYPB"
                     /gene_synonym="CD235b; GPB; GYP; GYPA; MNS; PAS-3; SS"
                     /coded_by="XM_011531903.3:94..384"
                     /db_xref="GeneID:2994"
                     /db_xref="HGNC:HGNC:4703"
                     /db_xref="MIM:617923"
ORIGIN      
        1 mygkiifvll lseivsisal sttevamhts tsssvtksyi ssqtngetgq lvhrftvpap
       61 vviiliilcv magiigtill isysirrlik vtalnv
//
LOCUS       XP_047273628            1026 aa            linear   PRI 20-MAR-2023
DEFINITION  treacle protein isoform X37 [Homo sapiens].
ACCESSION   XP_047273628
VERSION     XP_047273628.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417672.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1026
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..1026
                     /product="treacle protein isoform X37"
                     /calculated_mol_wt=104025
     Region          6..37
                     /region_name="LisH"
                     /note="Lissencephaly type-1-like homology motif;
                     smart00667"
                     /db_xref="CDD:128913"
     Region          <212..444
                     /region_name="Treacle"
                     /note="Treacher Collins syndrome protein Treacle;
                     pfam03546"
                     /db_xref="CDD:427362"
     Region          388..904
                     /region_name="Treacle"
                     /note="Treacher Collins syndrome protein Treacle;
                     pfam03546"
                     /db_xref="CDD:427362"
     CDS             1..1026
                     /gene="TCOF1"
                     /gene_synonym="MFD1; TCS; TCS1; treacle"
                     /coded_by="XM_047417672.1:51..3131"
                     /db_xref="GeneID:6949"
                     /db_xref="HGNC:HGNC:11654"
                     /db_xref="MIM:606847"
ORIGIN      
        1 maearkrrel lpliyhhllr agyvraarev keqsgqkcfl aqpvtlldiy thwqqtselg
       61 rkrkaeedaa lqakktrvsd pistsessee eeeaeaetak atprlastns svlgadlpss
      121 mkekakaete kagktgnsmp hpatgktvan llsgksprks aepsanttlv seteeegsvp
      181 afgaaakpgm vsagqadsss edtssssdet dvegkpsvkp aqvkassvst kesparkaap
      241 apgkvgdvtp qvkggalppa krakkpeees esseegsese eeapagtrsq vkasekilqv
      301 raasapakgt pgkgatpapp gkagavasqt kagkpeedse ssseessdse eetpaakall
      361 qakasgktsq vgaasapake sprkgaapap pgktgpavak aqagkreeds qssseesdse
      421 eeapaqakps gkapqvraas apakesprkg aapapprktg paaaqvqvgk qeedsrssse
      481 esdsdreala amnaaqvkpl gkspqvkpas tmgmgplgkg agpvppgkvg patpsaqvgk
      541 weedsessse essdssdgev ptavapaqek slgnilqakp tsspakgppq kagpvavqvk
      601 aekpmdnses seessdsads eeapaamtaa qakpalkipq tkacpkktnt tasakvapvr
      661 vgtqaprkag tatspagssp avaggtqrpa edsssseesd seeektglav tvgqaksvgk
      721 glqvkaasvp vkgslgqgta pvlpgktgpt vtqvkaekqe dsesseeesd seeaaaspaq
      781 vktsvkktqa kanpaaarap sakgtisapg kvvtaaaqak qrspskvkpp vrnpqnstvl
      841 argpasvpsv gkavataaqa qtgpeedsgs seeesdseee aetlaqvkps gkthqiraal
      901 apakesprkg aaptppgktg psaaqagkqd dsgssseesd sdgeapaavt saqkdsnskp
      961 arsktlapap perntegsse sseeelpltq sswpscytrt spgckhpeeg pslgehsqel
     1021 llrerg
//
LOCUS       XP_011533872            1319 aa            linear   PRI 20-MAR-2023
DEFINITION  protein broad-minded isoform X1 [Homo sapiens].
ACCESSION   XP_011533872
VERSION     XP_011533872.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011535570.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1319
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..1319
                     /product="protein broad-minded isoform X1"
                     /calculated_mol_wt=151577
     Region          12..1316
                     /region_name="BROMI"
                     /note="Broad-minded protein; pfam14961"
                     /db_xref="CDD:434350"
     CDS             1..1319
                     /gene="TBC1D32"
                     /gene_synonym="BROMI; C6orf170; C6orf171"
                     /coded_by="XM_011535570.2:114..4073"
                     /db_xref="GeneID:221322"
                     /db_xref="HGNC:HGNC:21485"
                     /db_xref="MIM:615867"
ORIGIN      
        1 mahfssedqa mlqamlrrlf qsvkekitga pslecaeeil lhleetdenf hnyefvkylr
       61 qhigntlgsm ieeemekcts drnqgeecgy dtvvqqvtkr tqeskeykem mhylknimia
      121 vvesminkfe edetrnqerq kkiqkekshs yrtdncsdsd sslnqsykfc qgklqlildq
      181 ldpgqpkevr yealqtlcsa ppsdvlncen wttlcekltv slsdpdpvfs drilkfcaqt
      241 fllsplhmtk eiytslakyl esyflsrenh iptlsagvdi tnpnmtrllk kvrllneyqk
      301 eapsfwirhp ekymeeives tlslltvkhn qshvvsqkil dpiyffalvd tkavwfkkwm
      361 hahysrttvl rlletkyksl vttaiqqcvq yfemcktrka detlghskhc rnkqktfyyl
      421 gqelqyiyfi hslcllgrll iykqgrklfp iklknkkglv slidllvlft qliyyspscp
      481 kmtsaahsen yspasmvtev lwilsdqkec aveclynniv ietllqpihn lmkgneaspn
      541 csetalihia gilariasve eglilllyga nmnsseespt gahiiaqfsk klldedisif
      601 sgsemlpvvk gafisvcrhi ystceglqvl itynlhesia kawkktslls eriptpvegs
      661 dsvssvsqes qnimawednl lddllhfaat pkgllllqrt gainecvtfi fnryakklqv
      721 srhkkfgygv lvtrvastaa ggialkksgf inelitelws nleygrddvr vthprttpvd
      781 pidrscqksf lalvnllsyp aiyelvrnqd lpnkteyslr evptcvidii drliilnsea
      841 kirslfnyeq shifglrlls viccdldtll lleaqyqvse mllnaqeeni leiseshrdf
      901 iidglsvern hvlvrinlvg gplerilppr lleksdnpyp wpmfssyplp ncylsditrn
      961 agikqemgpk nkntifcvsg amqrsvnndl dklllclkis dkqtewienc qrqfckmmka
     1021 kpdiisgeal iellekfvlh ltespsecyf psveytatda nvkneslssv qqlgikmtvr
     1081 ygkflsllkd gaendltwvl khcerflkqq qtsikssllc lqgnyaghdw fvsslfmiml
     1141 gdkektfqfl hqfsrlltsa flwlprlhis sylpndtves gihpvyfcst hyiemllkae
     1201 lplvfsafhm sgfapsqicl qwitqcfwny ldwieichyi atcvflgpdy qvyiciavfk
     1261 hlqqdilqht qtqdlqvflk eealhgfrvs dyfeymeile qnyrtvllrd mrnirlqst
//
LOCUS       XP_011512687             691 aa            linear   PRI 20-MAR-2023
DEFINITION  lysine-specific histone demethylase 2 isoform X10 [Homo sapiens].
ACCESSION   XP_011512687
VERSION     XP_011512687.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514385.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..691
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..691
                     /product="lysine-specific histone demethylase 2 isoform
                     X10"
                     /calculated_mol_wt=77222
     Region          138..191
                     /region_name="zf-CW"
                     /note="CW-type Zinc Finger; pfam07496"
                     /db_xref="CDD:429491"
     Region          223..>689
                     /region_name="PLN03000"
                     /note="amine oxidase"
                     /db_xref="CDD:178578"
     CDS             1..691
                     /gene="KDM1B"
                     /gene_synonym="AOF1; C6orf193; LSD2"
                     /coded_by="XM_011514385.3:208..2283"
                     /db_xref="GeneID:221656"
                     /db_xref="HGNC:HGNC:21577"
                     /db_xref="MIM:613081"
ORIGIN      
        1 matprgrtkk kasfdhspds lplrssgrqa kkkatettde dedggsekky rkcekagcta
       61 tcpvcfasas ercakngyts rwyhlscgeh fcnecfdhyy rshkdgydky ttwkkiwtsn
      121 gktepspkaf madqqlpywv qctkpecrkw rqltkeiqlt pqiaktyrcg mkpntaikpe
      181 tsdhcslped lealtpqkci phiivrglvr ircvqeveri lyfmtrkgli ntgvlsvgad
      241 qyllpkdyhn ksviiigagp aglaaarqlh nfgikvtvle akdriggrvw ddksfkgvtv
      301 grgaqivngc innpvalmce qlgismhkfg ercdliqegg ritdptidkr mdfhfnalld
      361 vvsewrkdkt qlqdvplgek ieeiykafik esgiqfsele gqvlqfhlsn leyacgsnlh
      421 qvsarswdhn effaqfagdh tlltpgysvi ieklaegldi qlkspqvqci dysgdevqvt
      481 ttdgtgysaq kvlvtvplal lqkgaiqfnp plsekkmkai nslgagiiek ialqfpyrfw
      541 dskvqgadff ghvppsaskr glfavfydmd pqkkhsvlms viageavasv rtlddkqvlq
      601 qcmatlrelf keqevpdptk yfvtrwstdp wiqmaysfvk tggsgeaydi iaediqgtvf
      661 fageatnrhf pqtvtgayls gvreaskiaa f
//
LOCUS       XP_047275719             909 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleotide-binding oligomerization domain-containing protein 1
            isoform X4 [Homo sapiens].
ACCESSION   XP_047275719
VERSION     XP_047275719.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419763.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..909
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..909
                     /product="nucleotide-binding oligomerization
                     domain-containing protein 1 isoform X4"
                     /calculated_mol_wt=102734
     Region          21..105
                     /region_name="CARD_NOD1_CARD4"
                     /note="Caspase activation and recruitment domain similar
                     to that found in NOD1; cd08324"
                     /db_xref="CDD:260035"
     Site            order(26,29..30,33..36,38..40,42,46,87,90..91,93..101,
                     103..104)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:260035"
     Region          197..367
                     /region_name="NACHT"
                     /note="NACHT domain; pfam05729"
                     /db_xref="CDD:428606"
     Region          458..515
                     /region_name="NOD2_WH"
                     /note="NOD2 winged helix domain; pfam17779"
                     /db_xref="CDD:436037"
     Region          517..665
                     /region_name="NLRC4_HD2"
                     /note="NLRC4 helical domain HD2; pfam17776"
                     /db_xref="CDD:436035"
     Region          676..>892
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          730..757
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          798..825
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          826..853
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          854..881
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     CDS             1..909
                     /gene="NOD1"
                     /gene_synonym="CARD4; CLR7.1; NLRC1"
                     /coded_by="XM_047419763.1:531..3260"
                     /db_xref="GeneID:10392"
                     /db_xref="HGNC:HGNC:16390"
                     /db_xref="MIM:605980"
ORIGIN      
        1 meeqghseme iipseshphi qllksnrell vthirntqcl vdnllkndyf saedaeivca
       61 cptqpdkvrk ildlvqskge evsefflyll qqladayvdl rpwlleigfs pslltqskvv
      121 vntdpvsryt qqlrhhlgrd skfvlcyaqk eellleeiym dtimelvgfs neslgslnsl
      181 aclldhttgi lneqgetifi lgdagvgksm llqrlqslwa tgrldagvkf ffhfrcrmfs
      241 cfkesdrlcl qdllfkhycy perdpeevfa fllrfphval ftfdgldelh sdldlsrvpd
      301 sscpwepahp lvllanllsg kllkgaskll tartgievpr qflrkkvllr gfspshlray
      361 arrmfperal qdrllsqlea npnlcslcsv plfcwiifrc fqhfraafeg spqlpdctmt
      421 ltdvfllvte vhlnrmqpss lvqrntrspv etlhagrdtl cslgqvahrg mekslfvftq
      481 eevqasglqe rdmqlgflra lpelgpggdq qsyeffhltl qafftafflv lddrvgtqel
      541 lrffqewmpp agaattscyp pflpfqclqg sgparedlfk nkdhfqftnl flcgllskak
      601 qkllrhlvpa aalrrkrkal wahlfsslrg ylkslprvqv esfnqvqamp tfiwmlrciy
      661 etqsqkvgql aargicanyl kltycnacsa dcsalsfvlh hfpkrlaldl dnnnlndygv
      721 relqpcfsrl tvlrlsvnqi tdggvkvlse eltkykivty lglynnqitd vgarlgknki
      781 tseggkylal avknsksise vglasngist eggkslaral qqntsleilw ltqnelndev
      841 aeslaemlkv nqtlkhlwli qnqitakgta qladalqsnt giteiclngn likpeeakvy
      901 edekriicf
//
LOCUS       XP_011514091             486 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM50 isoform X1 [Homo sapiens].
ACCESSION   XP_011514091
VERSION     XP_011514091.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011515789.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Jun 6, 2016 this sequence version replaced XP_011514091.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..486
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..486
                     /product="E3 ubiquitin-protein ligase TRIM50 isoform X1"
                     /calculated_mol_wt=54469
     Region          14..58
                     /region_name="RING-HC_TRIM50_like_C-IV"
                     /note="RING finger, HC subclass, found in tripartite
                     motif-containing protein TRIM50, TRIM73, TRIM74 and
                     similar proteins; cd16605"
                     /db_xref="CDD:438267"
     Region          87..125
                     /region_name="Bbox2_TRIM50-like"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein TRIM50, TRIM73, TRIM74 and
                     similar proteins; cd19787"
                     /db_xref="CDD:380845"
     Region          282..468
                     /region_name="SPRY_PRY_TRIM50"
                     /note="PRY/SPRY domain in tripartite motif-binding protein
                     50 (TRIM50); cd13743"
                     /db_xref="CDD:293977"
     CDS             1..486
                     /gene="TRIM50"
                     /gene_synonym="TRIM50A"
                     /coded_by="XM_011515789.2:130..1590"
                     /db_xref="GeneID:135892"
                     /db_xref="HGNC:HGNC:19017"
                     /db_xref="MIM:612548"
ORIGIN      
        1 mawqvslpel edrlqcpicl evfkeplmlq cghsyckgcl vslschldae lrcpvcrqav
       61 dgssslpnvs larviealrl pgdpepkvcv hhrnplslfc ekdqelicgl cgllgshqhh
      121 pvtpvstvys rmkeelaali selkqeqkkv deliaklvnn rtrivnesdv fswvirrefq
      181 elhhlvdeek arclegiggh trglvasldm qleqaqgtre rlaqaecvle qfgnedhhkf
      241 irfhsmasra empqarpleg afspisfkpg lhqadikltv wkrlfrkvlp apeplkldpa
      301 tahpllelsk gntvvqcgll aqrrasqper fdystcvlas rgfscgrhyw evvvgsksdw
      361 rlgvikgtas rkgklnrspe hgvwliglke grvyeafacp rvplpvaghp hriglylhye
      421 qgeltffdad rpddlrplyt fqadfqgkly pildtcwher gsnslpmvlp ppsgpgplsp
      481 eqptkl
//
LOCUS       XP_011516561             625 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-dependent phosphate transport protein 2C isoform X4 [Homo
            sapiens].
ACCESSION   XP_011516561
VERSION     XP_011516561.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011518259.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..625
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..625
                     /product="sodium-dependent phosphate transport protein 2C
                     isoform X4"
                     /calculated_mol_wt=65047
     Region          80..>445
                     /region_name="2a58"
                     /note="Phosphate:Na+ Symporter (PNaS) Family; TIGR01013"
                     /db_xref="CDD:162157"
     CDS             1..625
                     /gene="SLC34A3"
                     /gene_synonym="HHRH; NPT2C; NPTIIc"
                     /coded_by="XM_011518259.2:187..2064"
                     /db_xref="GeneID:142680"
                     /db_xref="HGNC:HGNC:20305"
                     /db_xref="MIM:609826"
ORIGIN      
        1 mpsslpgsqv phptldavdl vektlrnegt sssapvleeg dtdpwtlpql kdtsqpwkel
       61 rvagrlrrva gsvlkacgll gslyfficsl dvlssafqll gskvagdifk dnvvlsnpva
      121 glvigvlvta lvqssstsss ivvsmvaakl ltvrvsvpii mgvnvgtsit stlvsmaqsg
      181 drdefqrafs gsavhgifnw ltvlvllple satallerls elalgaaslt praqapdilk
      241 vltkplthli vqldsdmims satgnatnss likhwcgttg qptqensscg afgpctekns
      301 tapadrlpcr hlfagteltd lavgcillag sllvlcgclv livkllnsvl rgrvaqvvrt
      361 vinadfpfpl gwlggylavl agagltfalq sssvftaavv plmgvgvisl drayplllgs
      421 nigttttall aalaspadrm lsalqpvcgl lpggptgsap etpghaappl tgrdkcgtpw
      481 nprsfflplp clyplrpsqc rvllhplqea lqtapvcgll qvrqplegpv tlfsppvalc
      541 llpagpglcr lstlgteetg slgrrhrqsq vgrcfprrsp lraavmqsvl ggagldcssq
      601 eraggvlgnm stsghspppr rpshp
//
LOCUS       XP_016884972             836 aa            linear   PRI 20-MAR-2023
DEFINITION  probable ribonuclease ZC3H12B isoform X1 [Homo sapiens].
ACCESSION   XP_016884972
VERSION     XP_016884972.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029483.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..836
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..836
                     /product="probable ribonuclease ZC3H12B isoform X1"
                     /calculated_mol_wt=94075
     Region          108..149
                     /region_name="UBA_6"
                     /note="UBA-like domain; pfam18039"
                     /db_xref="CDD:407876"
     Region          193..323
                     /region_name="PIN_Zc3h12-like"
                     /note="PRORP-like PIN domain of ribonuclease Zc3h12a and
                     related proteins; cd18729"
                     /db_xref="CDD:350296"
     Region          360..378
                     /region_name="zf-CCCH_2"
                     /note="RNA-binding, Nab2-type zinc finger; pfam14608"
                     /db_xref="CDD:434069"
     Region          796..830
                     /region_name="Regnase_1_C"
                     /note="Endoribonuclease Regnase 1/ ZC3H12 C-terminal
                     domain; pfam18561"
                     /db_xref="CDD:436579"
     CDS             1..836
                     /gene="ZC3H12B"
                     /gene_synonym="CXorf32; MCPIP2"
                     /coded_by="XM_017029483.2:4029..6539"
                     /db_xref="GeneID:340554"
                     /db_xref="HGNC:HGNC:17407"
                     /db_xref="MIM:300889"
ORIGIN      
        1 mtataevetp kmeksaskee kqqpkqdste qgnadseewm ssesdpeqis lkssdnsksc
       61 qprdgqlkkk emhskphrql crspcldrps fsqssilqdg kldlekeyqa kmefalklgy
      121 aeeqiqsvln klgpeslind vlaelvrlgn kgdsegqinl sllvprgpss reiaspelsl
      181 edeidnsdnl rpvvidgsnv amshgnkeef scrgiqlavd wfldkghkdi tvfvpawrke
      241 qsrpdapitd qdilrkleke kilvftpsrr vqgrrvvcyd drfivklafd sdgiivsndn
      301 yrdlqvekpe wkkfieerll mysfvndkfm ppddplgrhg pslenflrkr pivpehkkqp
      361 cpygkkctyg hkckyyhper anqpqrsvad elrisaklst vktmsegtla kcgtgmssak
      421 geitsevkrv apkrqsdpsi rsvamepeew lsiarkpeas svpslvtals vptipppksh
      481 avgalntrsa sspvpgsshf phqkaslehm asmqyppilv tnshgtpisy aeqypkfesm
      541 gdhgyysmlg dfsklninsm hnreyymaev drgvyarnpn lcsdsrvsht rndnyssynn
      601 vylavadthp egnlklhrsa sqnrlqpfph gyhealtrvq sygpedskqg phkqsvphla
      661 lhaqhpstgt rsscpadypm ppnihpgatp qpgralvmtr mdsisdsrly esnpvrqrrp
      721 plcreqhasw dplpcttdsy gyhsyplsns lmqpcyepvm vrsvpekmeq lwrnpwvgmc
      781 ndsrehmipe hqyqtyknlc nifpsnivla vmeknphtad aqqlaaliva klraar
//
LOCUS       XP_054186811             156 aa            linear   PRI 20-MAR-2023
DEFINITION  apolipoprotein M isoform X1 [Homo sapiens].
ACCESSION   XP_054186811
VERSION     XP_054186811.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330836.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167247.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..156
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..156
                     /product="apolipoprotein M isoform X1"
                     /calculated_mol_wt=17502
     CDS             1..156
                     /gene="APOM"
                     /gene_synonym="apo-M; G3a; HSPC336; NG20"
                     /coded_by="XM_054330836.1:177..647"
                     /db_xref="GeneID:55937"
                     /db_xref="HGNC:HGNC:13916"
                     /db_xref="MIM:606907"
ORIGIN      
        1 mgrssqrstw asgtlsqgql pprrswqllt lwttlssiwl lalprcsstf vlpsacewkd
       61 glcvprkwiy hltegstdlr tegrpdmkte lfssscpggi mlnetgqgyq rfllynrsph
      121 ppekcveefk sltscldska flltprnqea celsnn
//
LOCUS       XP_054188227             531 aa            linear   PRI 20-MAR-2023
DEFINITION  tyrosine-protein kinase Blk isoform X1 [Homo sapiens].
ACCESSION   XP_054188227
VERSION     XP_054188227.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332252.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_018654717.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..531
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1-22"
     Protein         1..531
                     /product="tyrosine-protein kinase Blk isoform X1"
                     /calculated_mol_wt=60354
     CDS             1..531
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /coded_by="XM_054332252.1:207..1802"
                     /db_xref="GeneID:640"
                     /db_xref="HGNC:HGNC:1057"
                     /db_xref="MIM:191305"
ORIGIN      
        1 mglvsskkpd kekpikekdk gqwsplkvsa qdkdapplpp lvvfnhltpp ppdehldedk
       61 hfvvalydyt amndrdlqml kgeklqvlkg tgdwwlarsl vtgregyvps nfvarvesle
      121 merwffrsqg rkeaerqlla pinkagsfli resetnkgaf slsvkdvttq gelikhykir
      181 cldeggyyis pritfpslqa lvqhyskkgd glcqrltlpc vrpapqnpwa qdeweiprqs
      241 lrlvrklgsg qfgevwmgyy knnmkvaikt lkegtmspea flgeanvmka lqherlvrly
      301 avvtkepiyi vteymargga prraasserg graglsrrrr vrcgclldfl ktdegsrlsl
      361 prlidmsaqi aegmayierm nsihrdlraa nilvsealcc kiadfglari idseytaqeg
      421 akfpikwtap eaihfgvfti kadvwsfgvl lmevvtygrv pypgmsnpev irnlergyrm
      481 prpdtcppel yrgviaecwr srpeerptfe flqsvledfy taterqyelq p
//
LOCUS       XP_054188386             643 aa            linear   PRI 20-MAR-2023
DEFINITION  formin-binding protein 4 isoform X7 [Homo sapiens].
ACCESSION   XP_054188386
VERSION     XP_054188386.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332411.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_019805496.1) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..643
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     Protein         1..643
                     /product="formin-binding protein 4 isoform X7"
                     /calculated_mol_wt=70271
     CDS             1..643
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /coded_by="XM_054332411.1:411..2342"
                     /db_xref="GeneID:23360"
                     /db_xref="HGNC:HGNC:19752"
                     /db_xref="MIM:615265"
ORIGIN      
        1 mldniedpsq edlcsvvqsg eseeeeeqdt lelelvlerk kaelraleeg dgsvsgsspr
       61 sdisqpasqd gmrrlmskrg kwkmfvrats pestsrsssk tgrdtpenge taigaensek
      121 idensdkeme veespekikv qttpkveeeq dlkfqigela ntltskfefl ginrqsisnf
      181 hvlllqtetr iadwregaln gnylkrklqd aaeqlkqyei natpkgwsch wdrdhrryfy
      241 vneqsgesqw efpdgeeeee esqaqenrde tlakqtlkdk tgtdsnstes setstgslck
      301 esfsgqvsss slmpltpfwt llqsnvpvlq pplplemppp pppppesppp pppppppaed
      361 geiqevemed egseeppapg teedtplkps aqttvvtsqs svdstissss stkgikrkat
      421 eistavvqrs atigsspvly sqsaiatghq aagignqatg ighqtipvsl paagmghqar
      481 gmslqsnylg laaapaimsy aecsvpigvt apslqpvqar gavptatiie pppppppppp
      541 ppppapkmpp pektkkgrkd kakksktkmp slvkkwqsiq reldeednss sseedresta
      601 qkrieewkqq qlvsgmaern anfealpedw rarlkrrkma pnt
//
LOCUS       XP_054188114             379 aa            linear   PRI 20-MAR-2023
DEFINITION  cerebellar degeneration-related protein 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054188114
VERSION     XP_054188114.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332139.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_017852933.1) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 26% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..379
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3-12.2"
     Protein         1..379
                     /product="cerebellar degeneration-related protein 2
                     isoform X1"
                     /calculated_mol_wt=42711
     CDS             1..379
                     /gene="CDR2"
                     /gene_synonym="CDR62; Yo"
                     /coded_by="XM_054332139.1:423..1562"
                     /db_xref="GeneID:1039"
                     /db_xref="HGNC:HGNC:1799"
                     /db_xref="MIM:117340"
ORIGIN      
        1 mneqhakvye qldvtarele etnqklvads kasqqkilsl tetieclqtn idhlqsqvee
       61 lkssgqgrrs pgkcdqekpa psfaclkely dlrqhfvydh vfaekitslq gqpspdeeen
      121 ehlkktvtml qaqlslerqk rvtmeeeygl vlkenseleq qlgatgayra raleleaeva
      181 emrqmlqseh pfvngveklv pdslyvpfke psqslleemf ltvpeshrkp lkrsssetil
      241 sslagsdivk gheetcirra kavkqrgisl lhevdtqysa lkvkyeellk kcqeeqdsls
      301 hkavqtsraa akdltgvnaq sepvasgwel asvnpepvss pttppeykal fkeifscikk
      361 tkqeideqrt kyrslsshs
//
LOCUS       XP_054190009             590 aa            linear   PRI 20-MAR-2023
DEFINITION  muscarinic acetylcholine receptor M3 isoform X1 [Homo sapiens].
ACCESSION   XP_054190009
VERSION     XP_054190009.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334034.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..590
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..590
                     /product="muscarinic acetylcholine receptor M3 isoform X1"
                     /calculated_mol_wt=65997
     CDS             1..590
                     /gene="CHRM3"
                     /gene_synonym="EGBRS; HM3; PBS"
                     /coded_by="XM_054334034.1:991..2763"
                     /db_xref="GeneID:1131"
                     /db_xref="HGNC:HGNC:1952"
                     /db_xref="MIM:118494"
ORIGIN      
        1 mtlhnnstts plfpnisssw ihspsdaglp pgtvthfgsy nvsraagnfs spdgttddpl
       61 gghtvwqvvf iafltgilal vtiignilvi vsfkvnkqlk tvnnyfllsl acadliigvi
      121 smnlfttyii mnrwalgnla cdlwlaidyv asnasvmnll visfdryfsi trpltyrakr
      181 ttkragvmig lawvisfvlw apailfwqyf vgkrtvppge cfiqflsept itfgtaiaaf
      241 ympvtimtil ywriyketek rtkelaglqa sgteaetenf vhptgssrsc ssyelqqqsm
      301 krsnrrkygr chfwfttksw kpsseqmdqd hsssdswnnn daaaslensa ssdeedigse
      361 traiysivlk lpghstilns tklpssdnlq vpeeelgmvd lerkadklqa qksvddggsf
      421 pksfsklpiq lesavdtakt sdvnssvgks tatlplsfke atlakrfalk trsqitkrkr
      481 mslvkekkaa qtlsaillaf iitwtpynim vlvntfcdsc ipktfwnlgy wlcyinstvn
      541 pvcyalcnkt frttfkmlll cqcdkkkrrk qqyqqrqsvi fhkrapeqal
//
LOCUS       XP_054191492            1620 aa            linear   PRI 20-MAR-2023
DEFINITION  terminal uridylyltransferase 4 isoform X9 [Homo sapiens].
ACCESSION   XP_054191492
VERSION     XP_054191492.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335517.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1620
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1620
                     /product="terminal uridylyltransferase 4 isoform X9"
                     /calculated_mol_wt=182194
     CDS             1..1620
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /coded_by="XM_054335517.1:256..5118"
                     /db_xref="GeneID:23318"
                     /db_xref="HGNC:HGNC:28981"
                     /db_xref="MIM:613692"
ORIGIN      
        1 meesktlkse nhepkknvic eeskavqvig nqtlkarndk svkeienssp nrnsskknkq
       61 ndiciektev ksckvnaanl pgpkdlglvl rdqshckakk fpnspvkaek atisqaksek
      121 atslqakaek spkspnsvka ekassyqmks ekvpsspaea ekgpslllkd mrqktelqqi
      181 gkkipssfts vdkvnieavg gekcalqnsp rsqkqqtctd ntgdsddsas giedvsddls
      241 kmkndesnke nssemdylen atvidesalt peqrlglkqa eerlerdhif rlekrspeyt
      301 ncrylcklcl ihieniqgah khikekrhkk nilekqeese lrslpppspa hlaalsvavi
      361 elakehgitd ddlrvrqeiv eemskvittf lpecslrlyg ssltrfalks sdvnidikfp
      421 pkmnhpdlli kvlgilkknv lyvdvesdfh akvpvvvcrd rksgllcrvs agndmacltt
      481 dlltalgkie pvfiplvlaf rywakrkppl lpcllgswie gfdpkrmddf qlkgiveekf
      541 vkwecnsssa teknsiaeen kakadqpkdd tkktetdnqs namkekhgks plaletpnrv
      601 slgqlwlell kfytldfale eyvicvriqd iltrenknwp krriaiedpf svkrnvarsl
      661 nsqlvyeyvv erfraayryf acpqtkggnk stvdfkkrek gkisnkkpvk snnmatngci
      721 llgettekin aereqpvqcd emdctsqrci idnnnllvne ldfadhgqds sslstsksse
      781 iepkldkkqd dlapsetclk kelsqcncid lskspdpdks tgtdcrsnle tesshqsvct
      841 dtsatscnck atedasdlnd ddnlptqely yvfdkfilts gkpptivcsi ckkdghsknd
      901 cpedfrkidl kplppmtnrf reildlvckr cfdelsppcs eqhnreqili glekfiqkey
      961 dekarlclfg sskngfgfrd sdldicmtle ghenaeklnc keiienlaki lkrhpglrni
     1021 lpittakvpi vkfehrrsgl egdislyntl aqhntrmlat yaaidprvqy lgytmkvfak
     1081 rcdigdasrg slssyayilm vlyflqqrkp pvipvlqeif dgkqipqrmv dgwnafffdk
     1141 teelkkrlps lgknteslge lwlgllrfyt eefdfkeyvi sirqkklltt fekqwtskci
     1201 aiedpfdlnh nlgagvsrkm tnfimkafin grklfgtpfy pligreaeyf fdsrvltdge
     1261 lapndrccrv cgkighymkd cpkrkrlkkk dseeekegne eekdsrdvld prdlhdtrdf
     1321 rdprdlrcfi cgdaghvrre cpevklarqr nssvaaaqlv rnlvnaqqva gsaqqqgdqs
     1381 irtrqssecs espsyspqpq pfpqnssqsa aitqpssqpg sqpklgppqq gaqpphqvqm
     1441 plynfpqspp aqyspmhnmg llpmhplqip apswpihgpv ihsapgsaps niglndpsii
     1501 faqpaarpva ipntshdghw prtvapnslv nsgavgnsep gfrgltppip wehaprphfp
     1561 lvpaswpygl hqnfmhqgna rfqpnkpfyt qaglpmhsnq pillsqgypy lnvsyiqqkk
//
LOCUS       XP_054192099             333 aa            linear   PRI 20-MAR-2023
DEFINITION  cytochrome P450 4A22 isoform X2 [Homo sapiens].
ACCESSION   XP_054192099
VERSION     XP_054192099.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336124.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..333
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..333
                     /product="cytochrome P450 4A22 isoform X2"
                     /calculated_mol_wt=38039
     CDS             1..333
                     /gene="CYP4A22"
                     /coded_by="XM_054336124.1:46..1047"
                     /db_xref="GeneID:284541"
                     /db_xref="HGNC:HGNC:20575"
                     /db_xref="MIM:615341"
ORIGIN      
        1 msvsvlspsr rlggvsgilq vtsllillll likaaqlylh rqwllkalqq fpcppshwlf
       61 ghiqefqhdq elqriqervk tfpsacpywi wggkvrvqly dpdymkvilg rsdpkshgsy
      121 kflaprigyg llllngqtwf qhrrmltpaf hydilkpyvg lmadsvrvml dkweellgqd
      181 splevfqhvs lmtldtimks afshqgsiqv drnsqsyiqa isdlnslvfc rmrnafhend
      241 tiysltsagr wthracqlah qhtdqviqlr kaqlqkegel ekikrkrhld fldilllakg
      301 plvcpglagv qdgivsgttw trcptppcal rrh
//
LOCUS       XP_054192450            1471 aa            linear   PRI 20-MAR-2023
DEFINITION  agrin isoform X4 [Homo sapiens].
ACCESSION   XP_054192450
VERSION     XP_054192450.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336475.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1471
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1471
                     /product="agrin isoform X4"
                     /calculated_mol_wt=153376
     CDS             1..1471
                     /gene="AGRN"
                     /gene_synonym="AGRIN; CMS8; CMSPPD"
                     /coded_by="XM_054336475.1:922..5337"
                     /db_xref="GeneID:375790"
                     /db_xref="HGNC:HGNC:329"
                     /db_xref="MIM:103320"
ORIGIN      
        1 mlhvhacthq islhvasagp cetcgdavca fgavcsagqc vcprcehppp gpvcgsdgvt
       61 ygsacelrea aclqqtqiee aragpceqae cgsggsgsge dgdceqelcr qrggiwdeds
      121 edgpcvcdfs cqsvpgspvc gsdgvtyste celkkarces qrglyvaaqg acrgptfapl
      181 ppvaplhcaq tpygccqdni taargvglag cpsacqcnph gsyggtcdpa tgqcscrpgv
      241 gglrcdrcep gfwnfrgivt dgrsgctpcs cdpqgavrdd ceqmtglcsc kpgvagpkcg
      301 qcpdgralgp agceadasap atcaemrcef garcveesgs ahcvcpmltc peanatkvcg
      361 sdgvtygnec qlktiacrqg lqisiqslgp cqeavapsth ptsasvtvtt pglllsqalp
      421 appgalplap sstahsqttp ppssrprtta svprttvwpv ltvpptapsp apslvasafg
      481 esgstdgssd eelsgdqeas gggsgglepl egssvatpgp pverascyns algccsdgkt
      541 psldaegsnc patkvfqgvl elegvegqel fytpemadpk selfgetars iestlddlfr
      601 nsdvkkdfrs vrlrdlgpgk svraivdvhf dpttafrapd varallrqiq vsrrrslgvr
      661 rplqehvrfm dfdwfpafit gatsgaiaag atarattasr lpssavtpra phpshtsqpv
      721 akttaapttr rppttapsrv pgrrppapqq ppkpcdsqpc fhggtcqdwa lgggftcscp
      781 agrggavcek vlgapvpafe grsflafptl rayhtlrlal efralepqgl llyngnargk
      841 dflalalldg rvqlrfdtgs gpavltsavp vepgqwhrle lsrhwrrgtl svdgetpvlg
      901 espsgtdgln ldtdlfvggv pedqaavale rtfvgaglrg cirlldvnnq rlelgigpga
      961 atrgsgvgec gdhpclpnpc hggapcqnle agrfhcqcpp grvgptcade kspcqpnpch
     1021 gaapcrvlpe ggaqcecplg regtfcqtas gqdgsgpfla dfngfshlel rglhtfardl
     1081 gekmalevvf largpsglll yngqktdgkg dfvslalrdr rlefrydlgk gaavirsrep
     1141 vtlgawtrvs lerngrkgal rvgdgprvlg espksrkvph tvlnlkeply vggapdfskl
     1201 araaavssgf dgaiqlvslg grqlltpehv lrqvdvtsfa ghpctrasgh pclngascvp
     1261 reaayvclcp ggfsgphcek glveksagdv dtlafdgrtf veylnavtes ekalqsnhfe
     1321 lslrteatqg lvlwsgkate radyvalaiv dghlqlsynl gsqpvvlrst vpvntnrwlr
     1381 vvahreqreg slqvgneapv tgssplgatq ldtdgalwlg glpelpvgpa lpkaygtgfv
     1441 gclrdvvvgr hplhlledav tkpelrpcpt p
//
LOCUS       XP_054194152             473 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/arginine-rich splicing factor 4 isoform X1 [Homo sapiens].
ACCESSION   XP_054194152
VERSION     XP_054194152.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338177.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..473
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..473
                     /product="serine/arginine-rich splicing factor 4 isoform
                     X1"
                     /calculated_mol_wt=54072
     CDS             1..473
                     /gene="SRSF4"
                     /gene_synonym="SFRS4; SRP75"
                     /coded_by="XM_054338177.1:9399..10820"
                     /db_xref="GeneID:6429"
                     /db_xref="HGNC:HGNC:10786"
                     /db_xref="MIM:601940"
ORIGIN      
        1 mskwyqpvfs llssrygfve fddlrdadda vyelngkdlc gervivehar gprrdgsygs
       61 grsgygyrrs grdkygpptr teyrlivenl ssrcswqdlk dymrqagevt yadahkgrkn
      121 egviefvsys dmkralekld gtevngrkir lvedkpgsrr rrsysrsrsh srsrsrsrhs
      181 rksrsrsgss ksshsksrsr srsgsrsrsk srsrsqsrsr skkeksrsps keksrsrshs
      241 agksrskskd qaeekiqnnd nvgkpksrsp srhksksksr srsqerrvee ekrgsvsrgr
      301 sqekslrqsr srsrskggsr srsrsrsksk dkrkgrkrsr eesrsrsrsr sksersrkrg
      361 skrdskagss kkkkkedtdr sqsrspsrsv skerehakse ssqregrges enagtnqetr
      421 srsrsnsksk pnlpsesrsr sksasktrsr sksrsrsasr spsrsrsrsh srs
//
LOCUS       XP_054223017             806 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase greatwall isoform X9 [Homo
            sapiens].
ACCESSION   XP_054223017
VERSION     XP_054223017.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367042.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..806
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..806
                     /product="serine/threonine-protein kinase greatwall
                     isoform X9"
                     /calculated_mol_wt=88977
     CDS             1..806
                     /gene="MASTL"
                     /gene_synonym="GREATWALL; GW; GWL; MAST-L; THC2"
                     /coded_by="XM_054367042.1:76..2496"
                     /db_xref="GeneID:84930"
                     /db_xref="HGNC:HGNC:19042"
                     /db_xref="MIM:608221"
ORIGIN      
        1 mdptagskke pgggaateeg vnriavpkpp sieefsivkp isrgafgkvy lgqkggklya
       61 vkvvkkadmi nknmthqvqa erdalalsks pfivhlyysl qsannvylvm eyliggdvks
      121 llhiygyfde emavkyisev alaldylhrh giihrdlkpd nmlisneghi kltdfglskv
      181 tlnrdinmmd ilttpsmakp rqdysrtpgq vlslisslgf ntpiaeknqd panilsacls
      241 etsqlsqglv cpmsvdqkdt tpysskllks cletvasnpg mpvkcltsnl lqsrkrlats
      301 sassqshtfi ssvesechss pkwekdcqes dealgptmms wnaveklcak sanaietkgf
      361 nkkdlelals pihnssalpt tgrscvnlak kcfsgevswe aveldvnnin mdtdtsqlgf
      421 hqsnqwavds ggiseehlgk rslkrnfelv dsspckkiiq nkktcveykh nemtncytnq
      481 ntgltvevqd lklsvhksqq ndcankeniv nsftdkqqtp eklpipmiak nlmceldedc
      541 eknskrdyls ssflcsdddr asknismnsd ssfpgisime splesqplds drsikessfe
      601 esniedpliv tpdcqektsp kgvenpavqe snqkmlgppl evlktlaskr navafrsfns
      661 hinasnnsep srmnmtslda mdiscaysgs ypmaitptqk rrscmphqtp nqiksgtpyr
      721 tpksvrrgva pvddgrilgt pdylapelll grahelkrhp lfsdvdwenl qhqtmpfipq
      781 pddetdtsyf earntaqhlt vsgfsl
//
LOCUS       XP_054223753            1339 aa            linear   PRI 20-MAR-2023
DEFINITION  pleckstrin homology domain-containing family A member 7 isoform X3
            [Homo sapiens].
ACCESSION   XP_054223753
VERSION     XP_054223753.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367778.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1339
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1339
                     /product="pleckstrin homology domain-containing family A
                     member 7 isoform X3"
                     /calculated_mol_wt=152214
     CDS             1..1339
                     /gene="PLEKHA7"
                     /coded_by="XM_054367778.1:14..4033"
                     /db_xref="GeneID:144100"
                     /db_xref="HGNC:HGNC:27049"
                     /db_xref="MIM:612686"
ORIGIN      
        1 maaatvgrdt lpehwsygvc rdgrvffind qlrcttwlhp rtgepvnsgh mirsdlprgw
       61 eegfteegas yfidhnqqtt afrhpvtgqf spensefilq eepnphmskq drnqrpssmv
      121 setstagtas tleakpgpki ikssskvhsf gkrdqairrn pnvpvvvrgw lhkqdssgmr
      181 lwkrrwfvla dyclfyykds reeavlgsip lpsyvispva pedrisrkys fkavhtgmra
      241 liynsstags qaeqsgmrty yfsadtqedm nawvramnqa aqvlsrsslk rdmekverqa
      301 vpqanhtesc hecgrvgpgh trdcphrghd divnferqeq egeqyrsqrd plegkrdrsk
      361 arspyspaee dalfmdlptg prgqqaqpqr aekngmlpas ygpgeqngtg gyqrafpprt
      421 npekhsqrks nlaqvehwar aqkgdsrslp ldqtlprqgp gqslsfpeny qtlpkstrhp
      481 sggssppprn lpsdykyaqd rashlkmsse errahrdgtv wqlyewqqrq qfrhgsptap
      541 iclgspeftd qgrsrsmlev prsisvppsp sdipppgppr vfpprrphtp aervtvkppd
      601 qrrsvdislg dsprrargha vknsshvdrr smpsmgymth tvsapslhgk sleelslllt
      661 rlrrhqakla svrnfaisql lqhqltfptc qaddtylqlk kdleyldlki knneplinvl
      721 ykvlkksarg crprrsmtgr dllkdrslkp vkiaesdtdv klsifceqdr vlqdledkir
      781 alkenkdqle svlevlhrqm eqyrdqpqhl ekiayqqkll qedlvhirae lsrestemen
      841 awneylklen dveqlkqtlq eqhrrafffq eksqiqkdlw riedvtagls ankenfrilv
      901 esvknperkt vplfphppvp slstseskpp pqpspptspv rtplevrlfp qlqtyvpyrp
      961 hppqlrkvts plqsptkakp kvqedeappr pplpelyspe dqppavpplp reatiirhts
     1021 vrglkrqsde rkrdrelgqc vngdsrvelr syvsepelat lsgdmaqpsl glvgpesryq
     1081 tlpgrglsgs tsrlqqssti apyvtlrrgl naesskatfp rpksalerly sgdhqrgkms
     1141 aeeqlermkr hqkalvrerk rtlgqgertg lpssrylsrp lpgdlgswkr eqdfdlqlle
     1201 rvvqgekkdk eengwlkvqa mpvteldlep qdydldisre lskpekvsip eryveldpee
     1261 ppsleelqar yrkaekirni larssmcnlq ptsgqdqnsv adldlqlqeq eriinisyal
     1321 aseasqrskq vaaqavtdp
//
LOCUS       XP_054224593             267 aa            linear   PRI 20-MAR-2023
DEFINITION  apolipoprotein A-I isoform X1 [Homo sapiens].
ACCESSION   XP_054224593
VERSION     XP_054224593.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368618.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..267
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..267
                     /product="apolipoprotein A-I isoform X1"
                     /calculated_mol_wt=30647
     CDS             1..267
                     /gene="APOA1"
                     /gene_synonym="apo(a); HPALP2"
                     /coded_by="XM_054368618.1:125..928"
                     /db_xref="GeneID:335"
                     /db_xref="HGNC:HGNC:600"
                     /db_xref="MIM:107680"
ORIGIN      
        1 mkaavltlav lfltgsqarh fwqqdeppqs pwdrvkdlat vyvdvlkdsg rdyvsqfegs
       61 algkqlnlkl ldnwdsvtst fsklreqlgp vtqefwdnle keteglrqem skdleevkak
      121 vqpylddfqk kwqeemelyr qkveplrael qegarqklhe lqeklsplge emrdrarahv
      181 dalrthlapy sdelrqrlaa rlealkengg arlaeyhaka tehlstlsek akpaledlrq
      241 gllpvlesfk vsflsaleey tkklntq
//
LOCUS       XP_054227988             193 aa            linear   PRI 20-MAR-2023
DEFINITION  natural killer cells antigen CD94 isoform X5 [Homo sapiens].
ACCESSION   XP_054227988
VERSION     XP_054227988.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372013.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..193
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..193
                     /product="natural killer cells antigen CD94 isoform X5"
                     /calculated_mol_wt=22412
     CDS             1..193
                     /gene="KLRD1"
                     /gene_synonym="CD94"
                     /coded_by="XM_054372013.1:209..790"
                     /db_xref="GeneID:3824"
                     /db_xref="HGNC:HGNC:6378"
                     /db_xref="MIM:602894"
ORIGIN      
        1 maaftklsie paftpgpnie lqkdsdccsc qekwvgyrcn cyfisseqkt wnesrhlcas
       61 qkssllqlqn tdeldfmsss qqfywiglsy seehtawlwe ngsalsqylf psfetfntkn
      121 ciaynpngna ldescedknr yiwlekpqet ysndrreskh iplrmaaerr raeqkekypl
      181 ikssdlvrth sls
//
LOCUS       XP_054230067            1603 aa            linear   PRI 20-MAR-2023
DEFINITION  inactive ADP-ribosyltransferase ARH2 isoform X2 [Homo sapiens].
ACCESSION   XP_054230067
VERSION     XP_054230067.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374092.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1603
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1603
                     /product="inactive ADP-ribosyltransferase ARH2 isoform X2"
                     /calculated_mol_wt=170522
     CDS             1..1603
                     /gene="ADPRHL1"
                     /gene_synonym="ARH2"
                     /coded_by="XM_054374092.1:272..5083"
                     /db_xref="GeneID:113622"
                     /db_xref="HGNC:HGNC:21303"
                     /db_xref="MIM:610620"
ORIGIN      
        1 msvdaqtlkk kmgklacdpa ahsilsslll yvtgradrpp gteaggsrps hqpqtqeatq
       61 rptrfqllqa kflgtgrery lkrtrevgrl iskdkqgpgg glvgatinkl lektkepapk
      121 pclsekprwg hpagkstvkn ilkiflaaee keakekeare kppverpkaa rgllpkimgk
      181 ssvlsklrek feqnsclcse asalrlhtqe rkkrnlqrkr mhrpevrvlh tatmastcvk
      241 mpparflact aeplpalsia tvvcgprswl shctkishse arrpprgeas vppsaretgp
      301 sgnkavgkgp leeepqrqpr pskpvtpqvm aqrdghavps lafscapctg gvlpglvpas
      361 splgpaspwg tgsaggdgta dptaestagg vqevrgarlt wppgppgeca gegpeitmtv
      421 cssederega gfpdpgrdpl fatqkyfpeq kvpehippln apsvqaarrt qpatepprit
      481 vqipvvhemp apptrlqnms sgenkpcicg genvvenaht efptvtenrr ghrapvelsk
      541 lsgmqaglsa sspqgpraap rlaaargavg adhsvpetll tqrlqtdpag gkenkgsfen
      601 shgprnpddi sgertselrd vkhplpesne ismqkkgsat ndpaasqnll rgntshasss
      661 qqvpsptgrn ptgaptslaa sskgrtgpeg vtpmgmtvpg aleecrrpll iessqplkaa
      721 eeitshdvre nplsslnepp kpgmkacgam aaagsvasra tpapapgstq spgdrtagep
      781 etlgqwgsra lseshprgea lprdphshgl lapggslepk sgaagrsllr gvalvqhped
      841 iatlarhped aaalarhpea arlyisntsa asrhtaavgg rkdvavegnl lgfstesgip
      901 asdhprpqar svaespsygp glppsppenp qakgregvrf prgaepdhll pavppaevdm
      961 gwvggthqrg pphlqahlpp tagdtqaklr asvpeprtqa gesqerpltq adlgrqqshq
     1021 aqeetpqpgd agkrvapsgs kvvlnpakep qtwwaqdlag dkgmaigvgg acqrsdqgqq
     1081 hlqgpweerg rstawgegtr aarnpavppg epegpgspaa qgqaqkqvqe wdrgqvqgha
     1141 qeqaqwqtqi eaqgqaqeqa qggtqghsqg qaqkqfqnwa qgqaqghaqe qaqwqtqiea
     1201 qgqaqepaqg gaqgqvqgqa qkwaqgqiqg qaqkqvqgev qkwaqeeaqg qaqwqtqika
     1261 qkwaqeqtqk gaqervqgqa qkgaqeraqe qaqeqtqiea qgqaqkgaqe rareqaqkga
     1321 qerareqaqk gaqerareqa qkgaqerare qaqkgaqera reqaqkgaqe rareqaqkga
     1381 qeraqeqgre qthieaqgqa qkgaqeward rardqgweqt qietqrqtqk gaqeraweqg
     1441 reqaltsgma praweqpisg iaegvdaagr sggsrspapr dggqsggsgl gepsagyppp
     1501 gsrplrgksi atsplglgks ptepkpeagg cgtpqapaqe gspdhpgaer alqdrmease
     1561 perrgrsrhl akykaqsfrd qrafdlsfrp msvrasdtse lpk
//
LOCUS       XP_054232596             184 aa            linear   PRI 20-MAR-2023
DEFINITION  glucosamine 6-phosphate N-acetyltransferase isoform X1 [Homo
            sapiens].
ACCESSION   XP_054232596
VERSION     XP_054232596.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376621.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..184
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..184
                     /product="glucosamine 6-phosphate N-acetyltransferase
                     isoform X1"
                     /calculated_mol_wt=20618
     CDS             1..184
                     /gene="GNPNAT1"
                     /gene_synonym="GNA1; GNPNAT; Gpnat1; RHZDAN"
                     /coded_by="XM_054376621.1:234..788"
                     /db_xref="GeneID:64841"
                     /db_xref="HGNC:HGNC:19980"
                     /db_xref="MIM:616510"
ORIGIN      
        1 mkpdetpmfd psllkevdws qntatfspai spthpgeglv lrplctadln rgffkvlgql
       61 tetgvvspeq fmksfehmkk sgdyyvtvve dvtlgqivat atliiehkfi hscakrgrve
      121 dvvvsdecrg kqlgklllst ltllskklnc ykitleclpq nvgfykkfgy tvseenymcr
      181 rflk
//
LOCUS       XP_054236375            2820 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger homeobox protein 3 isoform X5 [Homo sapiens].
ACCESSION   XP_054236375
VERSION     XP_054236375.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380400.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2820
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2820
                     /product="zinc finger homeobox protein 3 isoform X5"
                     /calculated_mol_wt=309887
     CDS             1..2820
                     /gene="ZFHX3"
                     /gene_synonym="ATBF1; ATBT; C16orf47; ZFH-3; ZNF927"
                     /coded_by="XM_054380400.1:157..8619"
                     /db_xref="GeneID:463"
                     /db_xref="HGNC:HGNC:777"
                     /db_xref="MIM:104155"
ORIGIN      
        1 meefmhskei clysgyvgpg lklggeipld mrlgggqlvs eelmnlgesf iqtndpslkl
       61 fqcavcnkft tdnldmlglh mnverslsed ewkavmgdsy qcklcryntq lkanfqlhck
      121 tdkhvqkyql vahikeggka newrlkcvai gnpvhlkcna cdyytnslek lrlhtvnsrh
      181 easlklykhl qqhesgvege scyyhcvlcn ystkaklnli qhvrsmkhqr seslrklqrl
      241 qkglpeeded lgqiftirrc pstdpeeaie dvegpsetaa dpeelakdqe ggasssqaek
      301 eltdspatsk risfpgsses plsskrpkta eeikpeqmyq cpyckysnad vnrlrvhamt
      361 qhsvqpmlrc plcqdmlnnk ihlqlhlthl hsvapdcvek limtvttpem vmpssmflpa
      421 avpdrdgnsn leeagkqpet sedlgknilp sasteqsgdl kpspadpgsv redsgficwk
      481 kgcnqvfkts aalqthfnev hakrpqlpvs drhvykyrcn qcslafktie klqlhsqyhv
      541 iraatmcclc qrsfrtfqal kkhletshle lseadiqqly ggllangdll amgdptlaed
      601 htiiveedke eesdledkqs ptgsdsgsvq edsgsepkra lpfrkgpnft mekfldpsrp
      661 ykctvckesf tqknillvhy nsvshlhklk ralqesatgq peptsspdnk pfkcntcnva
      721 ysqsstleih mrsvlhqtka raakleaasg ssngtgnsss islssstpsp vstsgsntft
      781 tsnpssagia pssnllsqvp tesvgmpplg npiganiasp sepkeanrkk ladmiasrqq
      841 qqqqqqqqqq qqqqqqqaqt laqaqaqvqa hlqqelqqqa aliqsqlfnp tllphfpmtt
      901 etllqlqqqq hllfpfyips aefqlnpevs lpvtsgaltl tgtgpglled lkaqvqvpqq
      961 shqqilpqqq qnqlsiaqsh sallqpsqhp ekknklvike kekesqrerd saeggegntg
     1021 pketlpdalk akekkelapg ggsepsmlpp riasdargna tkallenfgf elviqynenk
     1081 qkvqkkngkt dqgenlekle cdscgklfsn ililkshqeh vhqnyfpfkq lerfakqyrd
     1141 hydklyplrp qtpepppppp pppppplpaa ppqpastpai pasappitsp tiapaqpsvp
     1201 ltqlsmpmel pifsplmmqt mplqtlpaql ppqlgpvepl padlaqlyqh qlnptllqqq
     1261 nkrprtritd dqlrvlrqyf dinnspseeq ikemadksgl pqkvikhwfr ntlfkerqrn
     1321 kdspynfsnp pitsleelki dsrppspepp kqeywgskrs srtrftdyql rvlqdffdan
     1381 aypkddefeq lsnllnlptr vivvwfqnar qkarknyenq gegkdgerre ltndryirts
     1441 nlnyqckkcs lvfqrifdli khqkklcykd edeegqddsq nedsmdamei ltptssscst
     1501 pmpsqaysap apsanntass aflqltaeae elatfnskte agdekpklae apsaqpnqtq
     1561 ekqgqpkpel qqqeqpeqkt ntpqqklpql vslpslpqpp pqapppqcpl pqsspspsql
     1621 shlplkplht stpqqlanlp pqlipyqcdq cklafpsfeh wqehqqlhfl saqnqfihpq
     1681 fldrsldmpf mlfdpsnpll asqllsgaip qipassatsp stptstmntl krkleekasa
     1741 spgendsgtg geepqrdkrl rttitpeqle ilyqkyllds nptrkmldhi ahevglkkrv
     1801 vqvwfqntra rerkgqfrav gpaqahrrcp fcralfkakt aleahirsrh wheakragyn
     1861 ltlsamlldc dgglqmkgdi fdgtsfshlp psssdgqgvp lspvsktmel sprtllspss
     1921 ikvegiedfe spsmssvnln fdqtkldndd cssvntaitd tttgdegnad ndsatgiate
     1981 tksssapneg ltkaammams eyedrlssgl vspapsfysk eydnegtvdy setssladpc
     2041 spspgasgsa gksgdsgdrp gqkrfrtqmt nlqlkvlksc fndyrtptml ecevlgndig
     2101 lpkrvvqvwf qnarakekks klsmakhfgi nqtsyegpkt ectlcgikys arlsvrdhif
     2161 sqqhiskvkd tigsqldkek eyfdpatvrq lmaqqeldri kkanevlgla aqqqgmfdnt
     2221 plqalnlpta ypalqgippv llpglnspsl pgftpsntal tspkpnlmgl psttvpspgl
     2281 ptsglpnkps saslssptpa qatmamgpqq ppqqqqqqqq pqvqqppppp aaqppptpql
     2341 plqqqqqrkd kdsekvkeke kahkgkgepl pvpkkekgea ptataatisa plptmeyavd
     2401 paqlqalqaa ltsdptallt sqflpyfvpg fspyyapqip galqsgylqp mygmeglfpy
     2461 spalsqalmg lspgsllqqy qqyqqslqea iqqqqqrqlq qqqqqkvqqq qpkasqtpvp
     2521 pgapspdkdp akespkpeeq kntprevspl lpklpeepea esksadslyd pfivpkvqyk
     2581 lvcrkcqagf sdeeaarshl kslcffgqsv vnlqemvlhv ptggggggsg gggggggggg
     2641 ggggsyhcla cesalcgeea lsqhlesalh khrtitraar nakehpsllp hsacfpdpst
     2701 astsqsaahs ndsppppsaa apssasphas rkswpqvvsr asaakppsfp plsssstvts
     2761 sscstsgvqp smptddysee sdtdlsqksd gpaspvegpk dpscpkdsgl tsvgtdtfrl
//
LOCUS       XP_054169802             184 aa            linear   PRI 20-MAR-2023
DEFINITION  SUMO-conjugating enzyme UBC9 isoform X1 [Homo sapiens].
ACCESSION   XP_054169802
VERSION     XP_054169802.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054313827.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..184
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..184
                     /product="SUMO-conjugating enzyme UBC9 isoform X1"
                     /calculated_mol_wt=20312
     CDS             1..184
                     /gene="UBE2I"
                     /gene_synonym="C358B7.1; P18; UBC9"
                     /coded_by="XM_054313827.1:132..686"
                     /db_xref="GeneID:7329"
                     /db_xref="HGNC:HGNC:12485"
                     /db_xref="MIM:601661"
ORIGIN      
        1 msgialsrla qerkawrkdh pfgfvavptk npdgtmnlmn wecaipgkkg tpwegglfkl
       61 rmlfkddyps sppkckfepp lfhpnvypsg tvclsileed kdwrpaitik qillgiqell
      121 nepniqdpaq aeaytiywlv aalaplvaap prpsqgrlag rewstqahpr dsqgprlcge
      181 grga
//
LOCUS       XP_054170781             668 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase tousled-like 2 isoform X20 [Homo
            sapiens].
ACCESSION   XP_054170781
VERSION     XP_054170781.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314806.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..668
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..668
                     /product="serine/threonine-protein kinase tousled-like 2
                     isoform X20"
                     /calculated_mol_wt=76327
     CDS             1..668
                     /gene="TLK2"
                     /gene_synonym="HsHPK; MRD57; PKU-ALPHA"
                     /coded_by="XM_054314806.1:393..2399"
                     /db_xref="GeneID:11011"
                     /db_xref="HGNC:HGNC:11842"
                     /db_xref="MIM:608439"
ORIGIN      
        1 mtseigkekl nhmklakrrv eqplygldgs aakeateeqs alptlmsvml akprldteql
       61 aqrgaglcft fvsaqqnsps stgsgntehs cssqkqisiq hrqtqsdlti ekisalensk
      121 nsdlekkegr iddllrancd lrrqideqqk mlekykerln rcvtmskkll iekskqekma
      181 crdksmqdrl rlghfttvrh gasfteqwtd gyafqnlikq qerinsqree ierqrkmlak
      241 rkppamgqap patneqkqrk sktngaenet pssgntelkd tapalgahsl lrltlaeyhe
      301 qeeifklrlg hlkkeeaeiq aelerlervr nlhirelkri hnednsqfkd hptlndryll
      361 lhllgrggfs evykafdlte qryvavkihq lnknwrdekk enyhkhacre yrihkeldhp
      421 rivklydyfs ldtdsfctvl eycegndldf ylkqhklmse kearsiimqi vnalkylnei
      481 kppiihydlk pgnillvngt acgeikitdf glskimddds ynsvdgmelt sqgagtywyl
      541 ppecfvvgke ppkisnkvdv wsvgvifyqc lygrkpfghn qsqqdilqen tilkatevqf
      601 ppkpvvtpea kafirrclay rkedridvqq lacdpyllph irksvstssp agaaiastsg
      661 asnnsssn
//
LOCUS       XP_054171082             486 aa            linear   PRI 20-MAR-2023
DEFINITION  TOM1-like protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_054171082
VERSION     XP_054171082.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315107.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..486
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..486
                     /product="TOM1-like protein 2 isoform X2"
                     /calculated_mol_wt=52995
     CDS             1..486
                     /gene="TOM1L2"
                     /coded_by="XM_054315107.1:88..1548"
                     /db_xref="GeneID:146691"
                     /db_xref="HGNC:HGNC:11984"
                     /db_xref="MIM:615519"
ORIGIN      
        1 mefllgnpfs tpvgqcleka tdgslqsedw tlnmeicdii neteegpkda iralkkrlng
       61 nrnyrevmla ltawadafrs spdltgvvhi yeelkrkgve fpmadldals pihtpqrsvp
      121 evdpaatmpr sqsqqrtsag sysspppapy sapqapalsv tgpitanseq iarlrseldv
      181 vrgntkvmse mltemvpgqe dssdlellqe lnrtcramqq rivelisrvs neevteellh
      241 vnddlnnvfl ryerferyrs grsvqnasng vlnevtednl idlgpgspav vspmvgntap
      301 psslssqlag ldlgtesvsg tlsslqqcnp rdgfdmfaqt rgnslaeqrk tvtyedpqav
      361 gglasaldnr kqssegtfls saqkrgrgge sdlepidswl itqgmipvaq psvmddievw
      421 lrtdlkgddl eegvtseefd kfleerakaa emvpdlpspp meapapasnp sgrkkperse
      481 dalfal
//
LOCUS       XP_054173460             251 aa            linear   PRI 20-MAR-2023
DEFINITION  ras-related protein Rab-34 isoform X9 [Homo sapiens].
ACCESSION   XP_054173460
VERSION     XP_054173460.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317485.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..251
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..251
                     /product="ras-related protein Rab-34 isoform X9"
                     /calculated_mol_wt=28098
     CDS             1..251
                     /gene="RAB34"
                     /gene_synonym="NARR; RAB39; RAH"
                     /coded_by="XM_054317485.1:108..863"
                     /db_xref="GeneID:83871"
                     /db_xref="HGNC:HGNC:16519"
                     /db_xref="MIM:610917"
ORIGIN      
        1 mnilapvrrd rvlaelpqcl rkeaalhghk dfhprvtcac qehrtgtvgf kiskvivvgd
       61 lsvgktclin rfckdtfdkn ykatigvdfe merfevlgip fslqlwdtag qerfkciast
      121 yyrgaqaiii vfnlndvasl ehtkqwlada lkendpssvl lfltpaqyal mekdalqvaq
      181 emkaeywavs sltgenvref ffrvaaltfe anvlaeleks garrigdvvr insddsnlyl
      241 taskkkptcc p
//
LOCUS       XP_054198921            1740 aa            linear   PRI 20-MAR-2023
DEFINITION  methyl-CpG-binding domain protein 5 isoform X1 [Homo sapiens].
ACCESSION   XP_054198921
VERSION     XP_054198921.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342946.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1740
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1740
                     /product="methyl-CpG-binding domain protein 5 isoform X1"
                     /calculated_mol_wt=185187
     CDS             1..1740
                     /gene="MBD5"
                     /gene_synonym="MRD1"
                     /coded_by="XM_054342946.1:1368..6590"
                     /db_xref="GeneID:55777"
                     /db_xref="HGNC:HGNC:20444"
                     /db_xref="MIM:611472"
ORIGIN      
        1 mnggkecdgg dkegglpaiq vpvgwqrrvd qngvlyvsps gsllscleqv ktylltdgtc
       61 kcglecplil pkvfnfdpga avkqrtaedv kadedvtklc ihkrkiiava tlhksmeaph
      121 pslvltspgg gtnatpvvps raatprsvrn kshegitnsv mpecknpfkl migssnamgr
      181 lyvqelpgsq qqelhpvypr qrlgssehgq kspfrgshgg lpspassgsq iygdgsispr
      241 tdplgspdvf trsnpgfhga pnsspihlnr tplsppsvml hgspvqssca magrtnipls
      301 ptlttkspvm kkpmcnfstn meipramfhh kppqgppppp ppscalqkkp ltsekdplgi
      361 ldpipskpvn qnpviinpts fhsnvhsqvp mmnvsmppav vplpsnlplp tvkpghmnhg
      421 shvqrvqhsa stslspspvt spvhmmgtgi grieaspqrs rssstssdhg nfmmppvgpq
      481 atssgikvpp rsprstigsp rpsmpsspst ksdghhqykd ipnpliagis nvlntpssaa
      541 fptasagsss vksqpgllgm plnqilnqhn aasfpassll saaakaqlan qnklagnnss
      601 sssnsgavag sgnteghstl ntmfpptanm llptgegqsg raalrdklms qqkdalrkrk
      661 qppttvlsll rqsqmdssav pkpgpdllrk qgqgsfpiss msqllqsmsc qsshlssnst
      721 pgcgasntal pcsanqlhft dpsmnssvlq niplrgeavh chnantnfvh snspvpnhhl
      781 aglinqiqas gncgmlsqsg malgnslhpn ppqsristss tpvipnsivs synqtsseag
      841 gsgpsssiai agtnhpaitk ttsvlqdgvi vttaagnplq sqlpigsdfp fvgqehalhf
      901 psnstsnnhl phplnpslls slpislpvnq qhllnqnlln ilqpsagegk seinlhplgf
      961 lnpnvnaala flssdmdgqv lqpvhfqlla allqnqaqaa amlplpsfnl tisdllqqqn
     1021 tplpsltqmt appdhlpsnq sdnsraetll tsplgnplps fagsdttfnp lflpavngas
     1081 glmtlnpqll ggvlnsasan tanhpevsia tssqattttt ttssavaalt vstlggtavv
     1141 smaetllnis nnagntpgpa klnsnsvvpq llnpllgtgl lgdmssinnt lsnhqlthlq
     1201 sllnnnqmfp pnqqqqqllq gyqnlqafqg qstipcpann npmaclfqnf qvrmqedaal
     1261 lnkristqpg ltalpenpnt tlppfqdtpc elqpridpsl gqqvkdglvv ggpgdasvda
     1321 iykavvdaas kgmqvvitta vnsttqispi palsamsaft asigdplnls savsavihgr
     1381 nmggvdhdgr lrnsrgarlp knldhgknvn egdgfeyfks aschtskkqw dgeqsprger
     1441 nrwkyeefld hpghihsspc herpnnvstl pflpgeqhpi llpprncpgd kileenfryn
     1501 nykrtmmsfk erlentverc ahingnrprq srgfgellst akqdlvleeq spsssnslen
     1561 slvkdyihyn gdfnaksvng cvpspsdaks isseddlrnp dspssnelih yrprtfnvgd
     1621 lvwgqikglt swpgklvred dvhnscqqsp eegkvwvmwf glhtftqvep eklktltegl
     1681 eaysrvrkrn rksgklnnhl eaaiheamse ldkmsgtvhq ipqgdrqmrp pkpkrrkisr
//
LOCUS       XP_054179190            1406 aa            linear   PRI 20-MAR-2023
DEFINITION  ninein-like protein isoform X8 [Homo sapiens].
ACCESSION   XP_054179190
VERSION     XP_054179190.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323215.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1406
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1406
                     /product="ninein-like protein isoform X8"
                     /calculated_mol_wt=158869
     CDS             1..1406
                     /gene="NINL"
                     /gene_synonym="NLP"
                     /coded_by="XM_054323215.1:629..4849"
                     /db_xref="GeneID:22981"
                     /db_xref="HGNC:HGNC:29163"
                     /db_xref="MIM:609580"
ORIGIN      
        1 mwtlpvkwgm heeevawilp flacygmdee enhyvsqlre vysscdttgt gfldrqeltq
       61 lclklhleqq lpvllqtllg ndhfarvnfe efkegfvavl ssnagvrpsd edssslesaa
      121 ssaippkyvn gskwygrrsr pelcdaatea rrvpeqqtqa slkshlwrsa slesvespks
      181 deeaestkea qnelfeaqgq lqtwdsedfg spqkscspsf dtpesqirgv weelgvgssg
      241 hlseqelavv cqsvglqgle keeledlfnk ldqdgdgkvs leefqlglfs hepallless
      301 trvkpskaws hyqvpeesgc httttsslvs lcsslrlfss iddgsgfafp dqvlamwtqe
      361 giqngreilq sldfsvdekv nlleltwald nelmtvdsav qqaalacyhq elsyqqgqve
      421 qlarerdkar qdleraekrn lefvkemddc hstleqltek kikhleqgyr erlsllrsev
      481 eaerelfweq ahrqraalew dvgrlqaeea glrekltlal kensrlqkei vevveklsds
      541 erlalklqkd lefvlkdkle pqsaellaqe erfaavlkey elkcrdlqdr ndelqaeleg
      601 lwarlpknrh spswspdgrr rqlpglgpag isflgnsapv sietelmmeq vkehyqdlrt
      661 qletkvnyye reiaalkrnf ekerkdmeqa rrrevsvleg qkadleelhe ksqeviwglq
      721 eqlqdtargp epeqmglapc ctqalcglal rhhshlqqir reaeaelsge lsglgalpar
      781 rdltleleep pqgplprgsq rseqlelera lklqpcasek raqmcvslal eeeelelarg
      841 krvdgpslea emqalpkdgl vagsgqegtr gllplrpgcg erplawlapg dgreseeaag
      901 agprrrqaqd teatqspapa papashgpse rwsrmqpcgv dgdivpkepe pfgasaagle
      961 qpgarelpll gterdasqtq prmpplrpaa scggqaerlq aiqeerarsw srgtqeqase
     1021 qqaraegale pgchkhsvev arrgslpshl qladpqgswq eqlaapeege tkialerekd
     1081 dmetkllhle dvvralekhv dlrendrlef hrlseentll kndlgrvrqe leaaesthda
     1141 qrkeievlkk dkekacseme vlnrqnqnyk dqlsqlnvrv lqlgqeasth qaqneehrvt
     1201 iqmltqslee vvrsgqqqsd qiqklrvele clnqehqslq lpwseltqtl eesqdqvqga
     1261 hlrlrqaqaq hlqevrlvpq drvaelhrll slqgeqarrr ldaqreehek qlkateerve
     1321 eaemilknme mllqekvdkl keqfekntks dlllkelyve nahlvralqa teekqrgaek
     1381 qsrlleekvh alnklvsria paalsv
//
LOCUS       XP_054179903             536 aa            linear   PRI 20-MAR-2023
DEFINITION  double-stranded RNA-binding protein Staufen homolog 1 isoform X4
            [Homo sapiens].
ACCESSION   XP_054179903
VERSION     XP_054179903.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054323928.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..536
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..536
                     /product="double-stranded RNA-binding protein Staufen
                     homolog 1 isoform X4"
                     /calculated_mol_wt=59324
     CDS             1..536
                     /gene="STAU1"
                     /gene_synonym="PPP1R150; STAU"
                     /coded_by="XM_054323928.1:481..2091"
                     /db_xref="GeneID:6780"
                     /db_xref="HGNC:HGNC:11370"
                     /db_xref="MIM:601716"
ORIGIN      
        1 mcevsrgwkp ctegilkvrp trkisyeesi tptvelnalc mklgkkpmyk pvdpysrmqs
       61 tynynmrgga yppryfypfp vppllyqvel svggqqfngk gktrqaakhd aaakalrilq
      121 neplperlev ngreseeenl nkseisqvfe ialkrnlpvn fevaresgpp hmknfvtkvs
      181 vgefvgegeg kskkiskkna aiavleelkk lpplpaverv kprikkktkp ivkpqtspey
      241 gqginpisrl aqiqqakkek epeytllter glprrrefvm qvkvgnhtae gtgtnkkvak
      301 rnaaenmlei lgfkvpqaqp tkpalkseek tpikkpgdgr kvtffepgsg dengtsnked
      361 efrmpylshq qlpagilpmv pevaqavgvs qghhtkdftr aapnpakatv tamiarelly
      421 ggtsptaeti lknnissghv phgpltrpse qldylsrvqg fqveykdfpk nnknefvsli
      481 ncssqpplis hgigkdvesc hdmaalnilk llseldqqst emprtgngpm svcgrc
//
LOCUS       XP_054180921            1318 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptojanin-1 isoform X16 [Homo sapiens].
ACCESSION   XP_054180921
VERSION     XP_054180921.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324946.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060945) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1318
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1318
                     /product="synaptojanin-1 isoform X16"
                     /calculated_mol_wt=145926
     CDS             1..1318
                     /gene="SYNJ1"
                     /gene_synonym="DEE53; EIEE53; INPP5G; PARK20"
                     /coded_by="XM_054324946.1:1..3957"
                     /db_xref="GeneID:8867"
                     /db_xref="HGNC:HGNC:11503"
                     /db_xref="MIM:604297"
ORIGIN      
        1 mrkrwacwsg sdapggcggg cgrrrrrsrr kraaseerrm afskgfriyh kldpppfsli
       61 vetrhkeecl mfesgavavl ssaekeaikg tyskvldayg llgvlrlnlg dtmlhylvlv
      121 tgcmsvgkiq esevfrvtst efislridss dedrisevrk vlnsgnfyfa wsasgisldl
      181 slnahrsmqe qttdnrffwn qslhlhlkhy gvncddwllr lmcggveirt iyaahkqaka
      241 clisrlscer agtrfnvrgt nddghvanfv eteqvvyldd svssfiqirg svplfweqpg
      301 lqvgshrvrm srgfeanapa fdrhfrtlkn lygkqiivnl lgskegehml skafqshlka
      361 sehaadiqmv nfdyhqmvkg gkaeklhsvl kpqvqkfldy gffyfngsev qrcqsgtvrt
      421 ncldcldrtn svqaflglem lakqlealgl aekpqlvtrf qevfrsmwsv ngdsiskiya
      481 gtgalegkak agklkdgars vtrtiqnnff dsskqeaidv lllgntlnsd ladkarallt
      541 tgslrvseqt lqsasskvlk smcenfykys kpkkirvcvg twnvnggkqf rsiafknqtl
      601 tdwlldapkl agiqefqdkr skptdifaig feemvelnag nivsasttnq klwavelqkt
      661 isrdnkyvll aseqlvgvcl fvfirpqhap firdvavdtv ktgmggatgn kgavairmlf
      721 httslcfvcs hfaagqsqvk ernedfieia rklsfpmgrm lfshdyvfwc gdfnyridlp
      781 neevkelirq qnwdsliagd qlinqknagq vfrgflegkv tfaptykydl fsddydtsek
      841 crtpawtdrv lwrrrkwpfd rsaedldlln asfqdeskil ytwtpgtllh ygraelktsd
      901 hrpvvalidi difeveaeer qniykeviav qgppdgtvlv siksslpenn ffddalidel
      961 lqqfasfgev ilirfvedkm wvtflegssa lnvlslngke llnrtitial kspdwiknle
     1021 eemslekisi alpsstsstl lgedaevaad fdmegdvddy saeveellpq hlqpssssgl
     1081 gtspsssprt spcqsptise gpvpslpirp srapsrtpgp psaqsspida qpatplpqkd
     1141 paqplepkrp ppprpvappt rpappqrppp psgrsqpspq aglagpgpag ystarptipp
     1201 ragvisapqs harasagrlt pesqsktset skgstflpep lkpqaafppq sslpppaqrl
     1261 qeplvpvaap mpqsgpqpnl etppqppprs rsshslpsea ssqpqcslsf agknkwnl
//
LOCUS       XP_054201232             206 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA N(3)-methylcytidine methyltransferase METTL6 isoform X7 [Homo
            sapiens].
ACCESSION   XP_054201232
VERSION     XP_054201232.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345257.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..206
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..206
                     /product="tRNA N(3)-methylcytidine methyltransferase
                     METTL6 isoform X7"
                     /calculated_mol_wt=24192
     CDS             1..206
                     /gene="METTL6"
                     /gene_synonym="hMETTL6"
                     /coded_by="XM_054345257.1:268..888"
                     /db_xref="GeneID:131965"
                     /db_xref="HGNC:HGNC:28343"
                     /db_xref="MIM:618903"
ORIGIN      
        1 maslqrkglq ariltseeee klkrdqtlvs dfkqqkleqe aqknwdlfyk rnstnffkdr
       61 hwttrefeel rscreqnply dterckvfqc dltkddlldh vppesvdvvm lifvlsavhp
      121 dkmhlvlqni ykchgcssel rqpwdkddfa vtwdpwspai rllgeglrhv hetlkqalyc
      181 tiftqhlegt dlapaleelt sllwcq
//
LOCUS       XP_054208130            1449 aa            linear   PRI 20-MAR-2023
DEFINITION  phospholipid-transporting ATPase VB isoform X2 [Homo sapiens].
ACCESSION   XP_054208130
VERSION     XP_054208130.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352155.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1449
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1449
                     /product="phospholipid-transporting ATPase VB isoform X2"
                     /calculated_mol_wt=163986
     CDS             1..1449
                     /gene="ATP10B"
                     /gene_synonym="ATPVB"
                     /coded_by="XM_054352155.1:404..4753"
                     /db_xref="GeneID:23120"
                     /db_xref="HGNC:HGNC:13543"
                     /db_xref="MIM:619791"
ORIGIN      
        1 malsvdsswh rwqwrvrdgf phcpsettpl lspekgrqsy nltqqrvvfp nnsifhqdwe
       61 evsrrypgnr tcttkytlft flprnlfeqf hrwanlyflf lvilnwmpsm evfhreitml
      121 plaivlfvim ikdgmedfkr hrfdkaincs niriyerkeq tyvqkcwkdv rvgdfiqmkc
      181 neivpadill lfssdpngic hletasldge tnlkqrrvvk gfsqqevqfe pelfhntivc
      241 ekpnnhlnkf kgymehpdqt rtgfgcesll lrgctirnte mavgiviyag hetkamlnns
      301 gprykrskie rrmnidiffc igililmcli gavghsiwng tfeehppfdv pdangsflps
      361 alggfymflt miillqlvkl gqvfflsndl dlydeetdls iqcralniae dlgqiqyifs
      421 dktgtltenk mvfrrctimg seyshqenak rletpkelds dgeewtqyqc lsfsarwaqd
      481 patmrsqkga qplrrsqsar vpiqghyrqr smghressqp pvafsssiek dvtpdknllt
      541 kvrdaalwle tlsdsrpaka slsttssiad fflalticns vmvstttepr qrvtikpssk
      601 algtslekiq qlfqklklls lsqsfsstap sdtdlgeslg anvattdsde rddasvcsgg
      661 dstddggyrs smwdqgdile sgsgtsleea leapatdlar pefcyeaesp deaalvhaah
      721 aysftlvsrt peqvtvrlpq gtcltfsllc tlgfdsvrkr msvvvrhplt geivvytkga
      781 dsvimdlled pacvpdinme kklrkirart qkhldlyard glrtlciakk vvseedfrrw
      841 asfrreaeas ldnrdellme taqhlenqlt llgatgiedr lqegvpdtia tlreagiqlw
      901 vltgdkqeta vniahscrll nqtdtvytin tenqetcesi lncaleelkq frelqkpdrk
      961 lfgfrlpskt psitseavvp eaglvidgkt lnaifqgkle kkfleltqyc rsvlccrstp
     1021 lqksmivklv rdklrvmtls igdgandvsm iqaadigigi sgqegmqavm ssdfaitrfk
     1081 hlkklllvhg hwcysrlarm vvyylyknvc yvnllfwyqf fcgfssstmi dywqmiffnl
     1141 fftslpplvf gvldkdisae tllalpelyk sgqnsecynl stfwismvda fyqslicffi
     1201 pylaykgsdi dvftfgtpin tislttillh qamemktwti fhgvvllgsf lmyflvslly
     1261 natcvicnsp tnpywvmegq lsnptfylvc fltpvvallp ryfflslqgt cgksliskaq
     1321 kidklppdkr nleiqswrsr qrpapvpeva rpthhpvssi tgqdfsastp kssnppkrkh
     1381 veesvlheqr cgtecmrdds csgdssaqls sgehllgpnr imaysrgqtd mcrcskrssh
     1441 rrsqsslti
//
LOCUS       XP_054209556            1631 aa            linear   PRI 20-MAR-2023
DEFINITION  A disintegrin and metalloproteinase with thrombospondin motifs 12
            isoform X1 [Homo sapiens].
ACCESSION   XP_054209556
VERSION     XP_054209556.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353581.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1631
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1631
                     /product="A disintegrin and metalloproteinase with
                     thrombospondin motifs 12 isoform X1"
                     /calculated_mol_wt=181690
     CDS             1..1631
                     /gene="ADAMTS12"
                     /gene_synonym="PRO4389"
                     /coded_by="XM_054353581.1:135..5030"
                     /db_xref="GeneID:81792"
                     /db_xref="HGNC:HGNC:14605"
                     /db_xref="MIM:606184"
ORIGIN      
        1 mpcaqrswla nlsvvaqlln fgalcygrqp qpgpvrfpdr rqehfikglp eyhvvgpvrv
       61 dasghflsyg lhypitssrr krdldgsedw vyyrisheek dlffnltvnq gflsnsyime
      121 krygnlshvk mmassaplch lsgtvlqqgt rvgtaalsac hgltgffqlp hgdffiepvk
      181 khplveggyh phivyrrqkv petkeptcgl kdsvnisqkq elwrekwerh nlpsrslsrr
      241 siskerwvet lvvadtkmie yhgsenvesy iltimnmvtg lfhnpsigna ihivvvrlil
      301 leeeeqglki vhhaektlss fckwqksinp ksdlnpvhhd vavlltrkdi cagfnrpcet
      361 lglshlsgmc qphrscnine dsglplafti ahelghsfgi qhdgkendce pvgrhpyims
      421 rqlqydptpl twskcseeyi trfldrgwgf clddipkkkg lkskviapgv iydvhhqcql
      481 qygpnatfcq evenvcqtlw csvkgfcrsk ldaaadgtqc gekkwcmagk citvgkkpes
      541 ipggwgrwsp wshcsrtcga gvqsaerlcn npepkfggky ctgerkryrl cnvhpcrsea
      601 ptfrqmqcse fdtvpyknel yhwfpifnpa hpcelycrpi dgqfsekmld avidgtpcfe
      661 ggnsrnvcin gickmvgcdy eidsnatedr cgvclgdgss cqtvrkmfkq kegsgyvdig
      721 lipkgardir vmeiegagnf lairsedpek yylnggfiiq wngnyklagt vfqydrkgdl
      781 eklmatgptn esvwiqllfq vtnpgikyey tiqkdgldnd veqqmyfwqy ghwtecsvtc
      841 gtgirrqtah cikkgrgmvk atfcdpetqp ngrqkkchek acpprwwage weacsatcgp
      901 hgekkrtvlc iqtmvsdeqa lpptdcqhll kpktllscnr dilcpsdwtv gnwselhwlg
      961 pntvrhsfsc tfscahsicf skelisqscf tscsvscggg vrirsvtcak nhdepcdvtr
     1021 kpnsralcgl qqcpssrrvl kpnkgtisng knpptlkpvp pptsrprmlt tptgpesmst
     1081 stpaisspsp ttaskegdlg gkqwqdsstq pelssrylis tgstsqpilt sqslsiqpse
     1141 envsssdtgp tsegglvatt tsgsglsssr npitwpvtpf yntltkgpem eihsgsgeer
     1201 eqpedkdesn pviwtkirvp gndapveste mplappltpd lsreswwppf stvmegllps
     1261 qrpttsetgt prvegmvtek pantllplgg dhqpepsgkt anrnhlklpn nmnqtkssep
     1321 vlteedatsl itegfllnas nykqltnghg sahwivgnws ecsttcglga ywrrvecstq
     1381 mdsdcaaiqr pdpakrchlr pcagwkvgnw skcsrncsgg fkireiqcvd srdhrnlrpf
     1441 hcqflagipp plsmscnpep ceawqvepws qcsrscgggv qergvfcpgg lcdwtkrpts
     1501 tmscnehlcc hwatgnwdlc stscgggfqk rtvqcvpseg nktedqdqcl cdhkprppef
     1561 kkcnqqackk sadllctkdk lsasfcqtlk amkkcsvptv raeccfscpq thithtqrqr
     1621 rqrllqkske l
//
LOCUS       XP_054213959             270 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 176B isoform X2 [Homo sapiens].
ACCESSION   XP_054213959
VERSION     XP_054213959.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357984.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..270
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..270
                     /product="transmembrane protein 176B isoform X2"
                     /calculated_mol_wt=29024
     CDS             1..270
                     /gene="TMEM176B"
                     /gene_synonym="LR8; MS4B2"
                     /coded_by="XM_054357984.1:30..842"
                     /db_xref="GeneID:28959"
                     /db_xref="HGNC:HGNC:29596"
                     /db_xref="MIM:610385"
ORIGIN      
        1 mtqntvivng vamasrpsqp thvnvhihqe saltqllkag gslkkflfhp gdtvpstari
       61 gyeqlalgvt qillgvvscv lgvclslgpw tvlrasgcaf wagsvviaag agaivhekhp
      121 gklagyissl ltltgfatam aavvlcvnsf iwqtepflyi dtvcdrsdpv fpttgyrwmr
      181 rsqenqwqke ecraymqmlr klftairalf lavcvlkviv slvslgvglr nlcgqssqpl
      241 neegsekrll gensvppsps reqtstaivl
//
LOCUS       XP_054215469             708 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-D-binding Myb-like transcription factor 1 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054215469
VERSION     XP_054215469.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359494.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..708
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..708
                     /product="cyclin-D-binding Myb-like transcription factor 1
                     isoform X3"
                     /calculated_mol_wt=79174
     CDS             1..708
                     /gene="DMTF1"
                     /gene_synonym="DMP1; DMTF; hDMP1; MRUL"
                     /coded_by="XM_054359494.1:557..2683"
                     /db_xref="GeneID:9988"
                     /db_xref="HGNC:HGNC:14603"
                     /db_xref="MIM:608491"
ORIGIN      
        1 mstveedsdt vtvetvnsvt ltqdtegnli lhcpqneade idsedsiepp hkrlclssed
       61 dqsiddstpc isvvalplse ndqsfevtmt attevaddev tegtvtqiqi lqneqldeis
      121 plgneevsav sqawfttked kdsltnkghk wkqgmwskee idilmnnier ylkargikda
      181 teiifemskd erkdfyrtia wglnrplfav yrrvlrmydd rnhvgkytpe eieklkelri
      241 khgndwatig aalgrsassv kdrcrlmkdt cntgkwteee ekrlaevvhe ltstepgdiv
      301 tqgvswaava ervgtrsekq crskwlnyln wkqsggtewt kedeinlilr iaeldvaden
      361 dinwdllaeg wssvrspqwl rskwwtikrq ianhkdvsfp vlikglkqlh enqknnptll
      421 enksgsgvpn sntnssvqhv qirvarledn taissspmaa lqipvqithv ssadspatvd
      481 setitlnsgt lqtfeilpsf hlqptgtpgt yllqtsssqg lpltltaspt vtltaaapas
      541 peqiivhals pehllntsdn vtvqchtprv iiqtvatedi tssisqaelt vdsdiqssdf
      601 peppdalead tfpdeihhpk mtvepsfnda hvskfsdqns telmnsvmvr teeeisdtdl
      661 kqeespsdla sayvteipys niirknqisl dhpwavlfqk iqrmskiw
//
LOCUS       XP_054216114             579 aa            linear   PRI 20-MAR-2023
DEFINITION  poly(U)-binding-splicing factor PUF60 isoform X3 [Homo sapiens].
ACCESSION   XP_054216114
VERSION     XP_054216114.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360139.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..579
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..579
                     /product="poly(U)-binding-splicing factor PUF60 isoform
                     X3"
                     /calculated_mol_wt=62226
     CDS             1..579
                     /gene="PUF60"
                     /gene_synonym="FIR; RoBPI; SIAHBP1; VRJS"
                     /coded_by="XM_054360139.1:173..1912"
                     /db_xref="GeneID:22827"
                     /db_xref="HGNC:HGNC:17042"
                     /db_xref="MIM:604819"
ORIGIN      
        1 meqlnladsg lvgkearrcr rasppmgmps awwlqneagc lfaarqvngq qgggsepaaa
       61 aavvaagdkw kppqgtdsik mengqstaak lglppltpeq qealqkakky ameqsiksvl
      121 vkqtiahqqq qltnlqmaaq rqralaimcr vyvgsiyyel gedtirqafa pfgpiksidm
      181 swdsvtmkhk gfafveyevp eaaqlaleqm nsvmlggrni kvgrpsnigq aqpiidqlae
      241 earafnriyv asvhqdlsdd diksvfeafg kiksctlard pttgkhkgyg fieyekaqss
      301 qdavssmnlf dlggqylrvg kavtppmpll tpatpgglpp aaavaaaaat akitaqeava
      361 gaavlgtlgt pglvspaltl aqplgtlpqa vmaaqapgvi tgvtparppi pvtipsvgvv
      421 npilaspptl gllepkkeke eeelfpeser pemlseqehm sisgssarhm vmqkllrkqe
      481 stvmvlrnmv dpkdidddle gevteecgkf gavnrviiyq ekqgeeedae iivkifvefs
      541 iasethkaiq alngrwfagr kvvaevydqe rfdnsdlsa
//
LOCUS       XP_054217037             345 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-1-syntrophin isoform X2 [Homo sapiens].
ACCESSION   XP_054217037
VERSION     XP_054217037.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361062.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..345
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..345
                     /product="beta-1-syntrophin isoform X2"
                     /calculated_mol_wt=38299
     CDS             1..345
                     /gene="SNTB1"
                     /gene_synonym="59-DAP; A1B; BSYN2; DAPA1B; SNT2; SNT2B1;
                     TIP-43"
                     /coded_by="XM_054361062.1:8290..9327"
                     /db_xref="GeneID:6641"
                     /db_xref="HGNC:HGNC:11168"
                     /db_xref="MIM:600026"
ORIGIN      
        1 mreatpyvkk gspvseigwe tpppesprlg gstsdppssq sfsfhrdrks iplkmcyvtr
       61 smaladpenr qleihspdak htvilrskds ataqawfsai hsnvndlltr viaevreqlg
      121 ktgiagsrei rhlgwlaekv pgeskkqwkp alvvltekdl liydsmprrk eawfspvhty
      181 pllatrlvhs gpgkgspqag vdlsfatrtg trqgiethlf raetsrdlsh wtrsivqgch
      241 nsaeliaeis tactyknqec rltihyengf sittepqega fpktiiqspy eklkmssddg
      301 irmlyldfgg kdgeiqldlh scpkpivfii hsflsakitr lglva
//
LOCUS       NP_004317               1426 aa            linear   PRI 03-APR-2023
DEFINITION  B-cell CLL/lymphoma 9 protein [Homo sapiens].
ACCESSION   NP_004317
VERSION     NP_004317.2
DBSOURCE    REFSEQ: accession NM_004326.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1426)
  AUTHORS   Youssef SS, El-Araby RE, Abbas EAE, Hassany M and Elbaz T.
  TITLE     Prognostic and survival impact of BCL9 and RPS6KB1 copy number
            variation detected from circulating free DNA in hepatocellular
            carcinoma
  JOURNAL   Expert Rev Mol Diagn 23 (3), 267-278 (2023)
   PUBMED   36803362
  REMARK    GeneRIF: Prognostic and survival impact of BCL9 and RPS6KB1 copy
            number variation detected from circulating free DNA in
            hepatocellular carcinoma.
REFERENCE   2  (residues 1 to 1426)
  AUTHORS   Orikasa S, Kawashima N, Tazawa K, Hashimoto K, Sunada-Nara K, Noda
            S, Fujii M, Akiyama T and Okiji T.
  TITLE     Hypoxia-inducible factor 1alpha induces osteo/odontoblast
            differentiation of human dental pulp stem cells via
            Wnt/beta-catenin transcriptional cofactor BCL9
  JOURNAL   Sci Rep 12 (1), 682 (2022)
   PUBMED   35027586
  REMARK    GeneRIF: Hypoxia-inducible factor 1alpha induces osteo/odontoblast
            differentiation of human dental pulp stem cells via
            Wnt/beta-catenin transcriptional cofactor BCL9.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1426)
  AUTHORS   Vafaizadeh V, Buechel D, Rubinstein N, Kalathur RKR, Bazzani L,
            Saxena M, Valenta T, Hausmann G, Cantu C, Basler K and Christofori
            G.
  TITLE     The interactions of Bcl9/Bcl9L with beta-catenin and Pygopus
            promote breast cancer growth, invasion, and metastasis
  JOURNAL   Oncogene 40 (43), 6195-6209 (2021)
   PUBMED   34545187
  REMARK    GeneRIF: The interactions of Bcl9/Bcl9L with beta-catenin and
            Pygopus promote breast cancer growth, invasion, and metastasis.
REFERENCE   4  (residues 1 to 1426)
  AUTHORS   Guan B, Ma J, Yang Z, Yu F and Yao J.
  TITLE     LncRNA NCK1-AS1 exerts oncogenic property in gastric cancer by
            targeting the miR-22-3p/BCL9 axis to activate the Wnt/beta-catenin
            signaling
  JOURNAL   Environ Toxicol 36 (8), 1640-1653 (2021)
   PUBMED   33974352
  REMARK    GeneRIF: LncRNA NCK1-AS1 exerts oncogenic property in gastric
            cancer by targeting the miR-22-3p/BCL9 axis to activate the
            Wnt/beta-catenin signaling.
REFERENCE   5  (residues 1 to 1426)
  AUTHORS   Chatziandreou I, Psaraki A, Paschidis K, Lazaris AC and Saetta AA.
  TITLE     Evidence for frequent concurrent DCUN1D1, FGFR1, BCL9 gene copy
            number amplification in squamous cell lung cancer
  JOURNAL   Pathol Res Pract 221, 153412 (2021)
   PUBMED   33862557
  REMARK    GeneRIF: Evidence for frequent concurrent DCUN1D1, FGFR1, BCL9 gene
            copy number amplification in squamous cell lung cancer.
REFERENCE   6  (residues 1 to 1426)
  AUTHORS   Townsley FM, Thompson B and Bienz M.
  TITLE     Pygopus residues required for its binding to Legless are critical
            for transcription and development
  JOURNAL   J Biol Chem 279 (7), 5177-5183 (2004)
   PUBMED   14612447
REFERENCE   7  (residues 1 to 1426)
  AUTHORS   Kramps T, Peter O, Brunner E, Nellen D, Froesch B, Chatterjee S,
            Murone M, Zullig S and Basler K.
  TITLE     Wnt/wingless signaling requires BCL9/legless-mediated recruitment
            of pygopus to the nuclear beta-catenin-TCF complex
  JOURNAL   Cell 109 (1), 47-60 (2002)
   PUBMED   11955446
REFERENCE   8  (residues 1 to 1426)
  AUTHORS   Knoll A, Dvorak J, Rohrer GA and Cepica S.
  TITLE     Linkage and cytogenetic mapping of the BCL9 gene to porcine
            chromosome 4
  JOURNAL   Anim Genet 33 (2), 162-163 (2002)
   PUBMED   12047235
REFERENCE   9  (residues 1 to 1426)
  AUTHORS   Busson-Le Coniat M, Salomon-Nguyen F, Dastugue N, Maarek O,
            Lafage-Pochitaloff M, Mozziconacci MJ, Baranger L, Brizard F,
            Radford I, Jeanpierre M, Bernard OA and Berger R.
  TITLE     Fluorescence in situ hybridization analysis of chromosome 1
            abnormalities in hematopoietic disorders: rearrangements of DNA
            satellite II and new recurrent translocations
  JOURNAL   Leukemia 13 (12), 1975-1981 (1999)
   PUBMED   10602418
REFERENCE   10 (residues 1 to 1426)
  AUTHORS   Willis TG, Zalcberg IR, Coignet LJ, Wlodarska I, Stul M, Jadayel
            DM, Bastard C, Treleaven JG, Catovsky D, Silva ML and Dyer MJ.
  TITLE     Molecular cloning of translocation t(1;14)(q21;q32) defines a novel
            gene (BCL9) at chromosome 1q21
  JOURNAL   Blood 91 (6), 1873-1881 (1998)
   PUBMED   9490669
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA593760.1, AC242628.1,
            CN281038.1, BC116451.1, CN281037.1 and AW104430.1.
            On Aug 11, 2005 this sequence version replaced NP_004317.1.
            
            Summary: BCL9 is associated with B-cell acute lymphoblastic
            leukemia. It may be a target of translocation in B-cell
            malignancies with abnormalities of 1q21. Its function is unknown.
            The overexpression of BCL9 may be of pathogenic significance in
            B-cell malignancies. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Y13620.1, SRR1803617.62371.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000234739.8/ ENSP00000234739.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1426
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     Protein         1..1426
                     /product="B-cell CLL/lymphoma 9 protein"
                     /note="bcl-9; protein legless homolog; B-cell lymphoma 9
                     protein; B cell CLL/lymphoma 9"
                     /calculated_mol_wt=149160
     Region          1..173
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00512.4)"
     Site            104
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00512.4)"
     Site            157
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00512.4)"
     Site            172
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O00512.4)"
     Region          177..205
                     /region_name="Interaction with PYGO1"
                     /note="propagated from UniProtKB/Swiss-Prot (O00512.4)"
     Region          207..439
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00512.4)"
     Site            315
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O00512.4)"
     Site            318
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (O00512.4)"
     Region          350..386
                     /region_name="BCL9"
                     /note="B-cell lymphoma 9 protein; pfam11502"
                     /db_xref="CDD:431912"
     Site            352
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D219; propagated from
                     UniProtKB/Swiss-Prot (O00512.4)"
     Region          358..374
                     /region_name="Interaction with CTNNB1.
                     /evidence=ECO:0000269|PubMed:17052462"
                     /note="propagated from UniProtKB/Swiss-Prot (O00512.4)"
     Region          <571..1186
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          597..625
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00512.4)"
     Site            687
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00512.4)"
     Site            689
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00512.4)"
     Region          787..895
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00512.4)"
     Site            801
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9D219; propagated from
                     UniProtKB/Swiss-Prot (O00512.4)"
     Site            844
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9D219; propagated from
                     UniProtKB/Swiss-Prot (O00512.4)"
     Site            907
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O00512.4)"
     Region          910..1002
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00512.4)"
     Site            917
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O00512.4)"
     Region          1032..1052
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00512.4)"
     Region          1152..1203
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00512.4)"
     Region          1253..1275
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O00512.4)"
     CDS             1..1426
                     /gene="BCL9"
                     /gene_synonym="LGS"
                     /coded_by="NM_004326.4:652..4932"
                     /db_xref="CCDS:CCDS30833.1"
                     /db_xref="GeneID:607"
                     /db_xref="HGNC:HGNC:1008"
                     /db_xref="MIM:602597"
ORIGIN      
        1 mhssnpkvrs spsgntqssp kskqevmvrp ptvmspsgnp qldskfsnqg kqggsasqsq
       61 pspcdsksgg htpkalpgpg gsmglkngag ngakgkgkre rsisadsfdq rdpgtpndds
      121 dikecnsadh iksqdsqhtp hsmtpsnata prsstpshgq ttateptpaq ktpakvvyvf
      181 stemankaae avlkgqveti vsfhiqnisn nkterstapl ntqisalrnd pkplpqqppa
      241 panqdqnssq ntrlqptppi papapkpaap prpldrespg venklipsvg spasstplpp
      301 dgtgpnstpn nravtpvsqg snsssadpka pppppvssge pptlgenpdg lsqeqlehre
      361 rslqtlrdiq rmlfpdekef tgaqsggpqq npgvldgpqk kpegpiqamm aqsqslgkgp
      421 gprtdvgapf gpqghrdvpf spdemvppsm nsqsgtigpd hldhmtpeqi awlklqqefy
      481 eekrrkqeqv vvqqcslqdm mvhqhgprgv vrgppppyqm tpsegwapgg tepfsdginm
      541 phslpprgma phpnmpgsqm rlpgfagmin semegpnvpn pasrpglsgv swpddvpkip
      601 dgrnfppgqg ifsgpgrger fpnpqglsee mfqqqlaekq lglppgmame girpsmemnr
      661 mipgsqrhme pgnnpifpri pvegplspsr gdfpkgippq mgpgrelefg mvpsgmkgdv
      721 nlnvnmgsns qmipqkmrea gagpeemlkl rpggsdmlpa qqkmvplpfg ehpqqeygmg
      781 prpflpmsqg pgsnsglrnl repigpdqrt nsrlshmppl plnpssnpts lntappvqrg
      841 lgrkpldisv agsqvhspgi nplksptmhq vqspmlgsps gnlkspqtps qlagmlagpa
      901 aaasiksppv lgsaaaspvh lkspslpaps pgwtsspkpp lqspgippnh kapltmaspa
      961 mlgnvesggp ppptasqpas vnipgslpss tpytmppept lsqnplsimm srmskfamps
     1021 stplyhdaik tvassdddsp parspnlpsm nnmpgmgint qnprisgpnp vvpmptlspm
     1081 gmtqplshsn qmpspnavgp nipphgvpmg pglmshnpim ghgsqeppmv pqgrmgfpqg
     1141 fppvqsppqq vpfphngpsg gqgsfpggmg fpgegplgrp snlpqssada alckpggpgg
     1201 pdsftvlgns mpsvftdpdl qevirpgatg ipefdlsrii psekpsqtlq yfprgevpgr
     1261 kqpqgpgpgf shmqgmmgeq aprmglalpg mggpgpvgtp diplgtapsm pghnpmrppa
     1321 flqqgmmgph hrmmspaqst mpgqptlmsn paaavgmipg kdrgpaglyt hpgpvgspgm
     1381 mmsmqgmmgp qqnimippqm rprgmaadvg mggfsqgpgn pgnmmf
//
LOCUS       NP_071898                459 aa            linear   PRI 05-APR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF25 [Homo sapiens].
ACCESSION   NP_071898
VERSION     NP_071898.2
DBSOURCE    REFSEQ: accession NM_022453.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 459)
  AUTHORS   Oltion K, Carelli JD, Yang T, See SK, Wang HY, Kampmann M and
            Taunton J.
  TITLE     An E3 ligase network engages GCN1 to promote the degradation of
            translation factors on stalled ribosomes
  JOURNAL   Cell 186 (2), 346-362 (2023)
   PUBMED   36638793
REFERENCE   2  (residues 1 to 459)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 459)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 459)
  AUTHORS   Cho JH, You YM, Yeom YI, Lee DC, Kim BK, Won M, Cho BC, Kang M,
            Park S, Yang SJ, Kim JS, Kim JA and Park KC.
  TITLE     RNF25 promotes gefitinib resistance in EGFR-mutant NSCLC cells by
            inducing NF-kappaB-mediated ERK reactivation
  JOURNAL   Cell Death Dis 9 (6), 587 (2018)
   PUBMED   29789542
  REMARK    GeneRIF: RNF25 plays an essential role in gefitinib resistance of
            Non-small cell lung cancer by mediating cross-talk between
            NF-kappaB and ERK pathways.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 459)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (residues 1 to 459)
  AUTHORS   Markson G, Kiel C, Hyde R, Brown S, Charalabous P, Bremm A, Semple
            J, Woodsmith J, Duley S, Salehi-Ashtiani K, Vidal M, Komander D,
            Serrano L, Lehner P and Sanderson CM.
  TITLE     Analysis of the human E2 ubiquitin conjugating enzyme protein
            interaction network
  JOURNAL   Genome Res 19 (10), 1905-1911 (2009)
   PUBMED   19549727
REFERENCE   7  (residues 1 to 459)
  AUTHORS   van Wijk SJ, de Vries SJ, Kemmeren P, Huang A, Boelens R, Bonvin AM
            and Timmers HT.
  TITLE     A comprehensive framework of E2-RING E3 interactions of the human
            ubiquitin-proteasome system
  JOURNAL   Mol Syst Biol 5, 295 (2009)
   PUBMED   19690564
  REMARK    Erratum:[Mol Syst Biol. 2009;5:317]
REFERENCE   8  (residues 1 to 459)
  AUTHORS   Ding W, Li C, Hu T, Graves-Deal R, Fotia AB, Weissman AM and Coffey
            RJ.
  TITLE     EGF receptor-independent action of TGF-alpha protects Naked2 from
            AO7-mediated ubiquitylation and proteasomal degradation
  JOURNAL   Proc Natl Acad Sci U S A 105 (36), 13433-13438 (2008)
   PUBMED   18757723
REFERENCE   9  (residues 1 to 459)
  AUTHORS   Asamitsu K, Tetsuka T, Kanazawa S and Okamoto T.
  TITLE     RING finger protein AO7 supports NF-kappaB-mediated transcription
            by interacting with the transactivation domain of the p65 subunit
  JOURNAL   J Biol Chem 278 (29), 26879-26887 (2003)
   PUBMED   12748188
  REMARK    GeneRIF: RING finger protein AO7 supports NF-kappaB-mediated
            transcription by interacting with the transactivation domain of the
            p65 subunit.
REFERENCE   10 (residues 1 to 459)
  AUTHORS   Lorick KL, Jensen JP, Fang S, Ong AM, Hatakeyama S and Weissman AM.
  TITLE     RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent
            ubiquitination
  JOURNAL   Proc Natl Acad Sci U S A 96 (20), 11364-11369 (1999)
   PUBMED   10500182
  REMARK    GeneRIF: Functional studies of the mouse counterpart
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI831198.1, AK023968.1 and
            AW613024.1.
            On Sep 22, 2003 this sequence version replaced NP_071898.1.
            
            Summary: The protein encoded by this gene contains a RING finger
            motif. The mouse counterpart of this protein has been shown to
            interact with Rela, the p65 subunit of NF-kappaB (NFKB), and
            modulate NFKB-mediated transcription activity. The mouse protein
            also binds ubiquitin-conjugating enzymes (E2s) and is a substrate
            for E2-dependent ubiquitination. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK289501.1, SRR1660807.146979.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295704.7/ ENSP00000295704.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..459
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     Protein         1..459
                     /product="E3 ubiquitin-protein ligase RNF25"
                     /EC_number="2.3.2.27"
                     /note="ring finger protein AO7; RING-type E3 ubiquitin
                     transferase RNF25"
                     /calculated_mol_wt=51088
     Region          268..309
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BH1.1)"
     Region          322..459
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BH1.1)"
     Site            450
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96BH1.1)"
     CDS             1..459
                     /gene="RNF25"
                     /gene_synonym="AO7"
                     /coded_by="NM_022453.3:33..1412"
                     /db_xref="CCDS:CCDS2420.1"
                     /db_xref="GeneID:64320"
                     /db_xref="HGNC:HGNC:14662"
                     /db_xref="MIM:616014"
ORIGIN      
        1 maasasaaag eedwvlpsev evlesiylde lqvikgngrt spweiyitlh pataedqdsq
       61 yvcftlvlqv paeyphevpq isirnprgls deqihtilqv lghvakaglg tamlyeliek
      121 gkeiltdnni phgqcvicly gfqekeaftk tpcyhyfhch claryiqhme qelkaqgqeq
      181 eqerqhattk qkavgvqcpv creplvydla slkaapepqq pmelyqpsae slrqqeerkr
      241 lyqrqqergg iidleaernr yfislqqppa paepesavdv skgsqppstl aaelstspav
      301 qstlppplpv atqhicekip gtrsnqqrlg etqkamldpp kpsrgpwrqp errhpkggec
      361 hapkgtrdtq elpppegplk epmdlkpeph sqgvegppqe kgpgswqgpp prrtrdcvrw
      421 erskgrtpgs syprlprgqg ayrpgtrres lgleskdgs
//
LOCUS       NP_001371700             306 aa            linear   PRI 10-MAY-2022
DEFINITION  putative solute carrier family 22 member 31 isoform g [Homo
            sapiens].
ACCESSION   NP_001371700
VERSION     NP_001371700.1
DBSOURCE    REFSEQ: accession NM_001384771.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 306)
  AUTHORS   Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA,
            Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X,
            Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang
            B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P,
            Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe
            F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch
            C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras
            A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M,
            Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers
            C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM,
            Elliott P, Walsh T, Tenesa A, Fawkes A, Murphy L, Rowan K, Ponting
            CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry
            SC, Moutsianas L, Law A, Caulfield MJ and Baillie JK.
  CONSRTM   GenOMICC Investigators; 23andMe; Covid-19 Human Genetics Initiative
  TITLE     Whole genome sequencing reveals host factors underlying critical
            Covid-19
  JOURNAL   Nature (2022) In press
   PUBMED   35255492
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   2  (residues 1 to 306)
  AUTHORS   Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G,
            Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E,
            Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM,
            Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C,
            Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M,
            Clark LM, Cohn JD, Denys M, Detter JC, Dickson M,
            Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos
            D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady
            DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand
            CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H,
            Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y,
            Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ,
            Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S,
            Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer
            J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH,
            Scott D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R,
            Tesmer JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M,
            Tsai M, Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL,
            Wills PL, Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA,
            Deaven L, Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler
            EE, Gilna P, Lucas SM, Myers RM, Rubin EM and Pennacchio LA.
  TITLE     The sequence and analysis of duplication-rich human chromosome 16
  JOURNAL   Nature 432 (7020), 988-994 (2004)
   PUBMED   15616553
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009113.8.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR9304716.433824.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
                                   variant(s)
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..306
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     Protein         1..306
                     /product="putative solute carrier family 22 member 31
                     isoform g"
                     /note="putative solute carrier family 22 member
                     ENSG00000182157; putative solute carrier family 22 member
                     31"
                     /calculated_mol_wt=32091
     Region          <1..237
                     /region_name="MFS"
                     /note="Major Facilitator Superfamily; cl28910"
                     /db_xref="CDD:452895"
     CDS             1..306
                     /gene="SLC22A31"
                     /coded_by="NM_001384771.1:718..1638"
                     /note="isoform g is encoded by transcript variant 10"
                     /db_xref="GeneID:146429"
                     /db_xref="HGNC:HGNC:27091"
ORIGIN      
        1 mgaglfsvvg tlllpglaal vqdwrllqgl galmsgllll fwgfpalfpe spcwllatgq
       61 vararkilwr faeasgvgpg dssleensla teltmlsars pqpryhsplg llrtrvtwrn
      121 glilgfsslv gggirasfrr slapqvptfy lpyfleagle aaalvflllt adccgrrpvl
      181 llgtmvtgla sllllagaqy lpgwtvlfls vlgllasrav salsslfaae vfptviraea
      241 ggcpshcrtp tacaaphscg aaparttclc crpptptgpa tppsstspaw wpwepgwdqs
      301 qglghg
//
LOCUS       NP_001147                466 aa            linear   PRI 17-DEC-2022
DEFINITION  annexin A7 isoform 1 [Homo sapiens].
ACCESSION   NP_001147
VERSION     NP_001147.1
DBSOURCE    REFSEQ: accession NM_001156.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 466)
  AUTHORS   Ling F, Zhang H, Sun Y, Meng J, Sanches JGP, Huang H, Zhang Q, Yu
            X, Wang B, Hou L and Zhang J.
  TITLE     AnnexinA7 promotes epithelial-mesenchymal transition by interacting
            with Sorcin and contributes to aggressiveness in hepatocellular
            carcinoma
  JOURNAL   Cell Death Dis 12 (11), 1018 (2021)
   PUBMED   34716295
  REMARK    GeneRIF: AnnexinA7 promotes epithelial-mesenchymal transition by
            interacting with Sorcin and contributes to aggressiveness in
            hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 466)
  AUTHORS   Liu H, Guo D, Sha Y, Zhang C, Jiang Y, Hong L, Zhang J, Jiang Y, Lu
            L and Huang H.
  TITLE     ANXA7 promotes the cell cycle, proliferation and cell
            adhesion-mediated drug resistance of multiple myeloma cells by
            up-regulating CDC5L
  JOURNAL   Aging (Albany NY) 12 (11), 11100-11115 (2020)
   PUBMED   32526706
  REMARK    GeneRIF: ANXA7 promotes the cell cycle, proliferation and cell
            adhesion-mediated drug resistance of multiple myeloma cells by
            up-regulating CDC5L.
REFERENCE   3  (residues 1 to 466)
  AUTHORS   Gui SJ, Ding RL, Wan YP, Zhou L, Chen XJ, Zeng GQ and He CZ.
  TITLE     Knockdown of annexin VII enhances nasopharyngeal carcinoma cell
            radiosensitivity in vivo and in vitro
  JOURNAL   Cancer Biomark 28 (2), 129-139 (2020)
   PUBMED   31958076
  REMARK    GeneRIF: Knockdown of annexin VII enhances nasopharyngeal carcinoma
            cell radiosensitivity in vivo and in vitro.
REFERENCE   4  (residues 1 to 466)
  AUTHORS   Mo HQ, Tian FJ, Li X, Zhang J, Ma XL, Zeng WH, Lin Y and Zhang Y.
  TITLE     ANXA7 regulates trophoblast proliferation and apoptosis in
            preeclampsia
  JOURNAL   Am J Reprod Immunol 82 (6), e13183 (2019)
   PUBMED   31446642
  REMARK    GeneRIF: ANXA7 regulates trophoblast proliferation and apoptosis in
            preeclampsia.
REFERENCE   5  (residues 1 to 466)
  AUTHORS   Sonder SL, Boye TL, Tolle R, Dengjel J, Maeda K, Jaattela M,
            Simonsen AC, Jaiswal JK and Nylandsted J.
  TITLE     Annexin A7 is required for ESCRT III-mediated plasma membrane
            repair
  JOURNAL   Sci Rep 9 (1), 6726 (2019)
   PUBMED   31040365
  REMARK    GeneRIF: Annexin A7 is required for ESCRT III-mediated plasma
            membrane repair.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 466)
  AUTHORS   Selbert S, Fischer P, Pongratz D, Stewart M and Noegel AA.
  TITLE     Expression and localization of annexin VII (synexin) in muscle
            cells
  JOURNAL   J Cell Sci 108 (Pt 1), 85-95 (1995)
   PUBMED   7738119
REFERENCE   7  (residues 1 to 466)
  AUTHORS   Shirvan A, Srivastava M, Wang MG, Cultraro C, Magendzo K, McBride
            OW, Pollard HB and Burns AL.
  TITLE     Divergent structure of the human synexin (annexin VII) gene and
            assignment to chromosome 10
  JOURNAL   Biochemistry 33 (22), 6888-6901 (1994)
   PUBMED   7515686
REFERENCE   8  (residues 1 to 466)
  AUTHORS   Creutz CE, Moss S, Edwardson JM, Hide I and Gomperts B.
  TITLE     Differential recognition of secretory vesicles by annexins.
            European Molecular Biology Organization Course 'Advanced Techniques
            for Studying Secretion'
  JOURNAL   Biochem Biophys Res Commun 184 (1), 347-352 (1992)
   PUBMED   1533123
REFERENCE   9  (residues 1 to 466)
  AUTHORS   Magendzo K, Shirvan A, Cultraro C, Srivastava M, Pollard HB and
            Burns AL.
  TITLE     Alternative splicing of human synexin mRNA in brain, cardiac, and
            skeletal muscle alters the unique N-terminal domain
  JOURNAL   J Biol Chem 266 (5), 3228-3232 (1991)
   PUBMED   1825209
REFERENCE   10 (residues 1 to 466)
  AUTHORS   Burns AL, Magendzo K, Shirvan A, Srivastava M, Rojas E, Alijani MR
            and Pollard HB.
  TITLE     Calcium channel activity of purified human synexin and structure of
            the human synexin gene
  JOURNAL   Proc Natl Acad Sci U S A 86 (10), 3798-3802 (1989)
   PUBMED   2542947
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY002854.1, J04543.1,
            AL512656.16 and BQ017137.1.
            
            Summary: Annexin VII is a member of the annexin family of
            calcium-dependent phospholipid binding proteins.The Annexin VII
            gene contains 14 exons and spans approximately 34 kb of DNA. An
            alternatively spliced cassette exon results in two mRNA transcripts
            of 2.0 and 2.4 kb which are predicted to generate two protein
            isoforms differing in their N-terminal domain. The alternative
            splicing event is tissue specific and the mRNA containing the
            cassette exon is prevalent in brain, heart and skeletal muscle. The
            transcripts also differ in their 3'-non coding regions by the use
            of two alternative poly(A) signals. Annexin VII encodes a protein
            with a molecular weight of approximately 51 kDa with a unique,
            highly hydrophobic N-terminal domain of 167 amino acids and a
            conserved C-terminal region of 299 amino acids. The latter domain
            is composed of alternating hydrophobic and hydrophilic segments.
            Structural analysis of the protein suggests that Annexin VII is a
            membrane binding protein with diverse properties, including
            voltage-sensitive calcium channel activity, ion selectivity and
            membrane fusion. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) lacks an alternate in-frame
            exon, compared to variant 2, resulting in a shorter protein
            (isoform 1) that lacks an internal segment, compared to isoform 2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments and orthologous data.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.13214.1,
                                           SRR1660803.111243.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372921.10/ ENSP00000362012.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..466
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.2"
     Protein         1..466
                     /product="annexin A7 isoform 1"
                     /note="annexin VII; annexin-7"
                     /calculated_mol_wt=50185
     Region          <25..178
                     /region_name="PHA03378"
                     /note="EBNA-3B; Provisional"
                     /db_xref="CDD:223065"
     Region          167..232
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     Region          239..304
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     Region          323..388
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     Region          398..463
                     /region_name="Annexin"
                     /note="pfam00191"
                     /db_xref="CDD:395139"
     CDS             1..466
                     /gene="ANXA7"
                     /gene_synonym="ANX7; SNX; SYNEXIN"
                     /coded_by="NM_001156.5:49..1449"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7325.1"
                     /db_xref="GeneID:310"
                     /db_xref="HGNC:HGNC:545"
                     /db_xref="MIM:186360"
ORIGIN      
        1 msypgypptg yppfpgyppa gqessfppsg qypypsgfpp mgggaypqvp ssgypgaggy
       61 papggypapg gypgapqpgg apsypgvppg qgfgvppgga gfsgypqpps qsygggpaqv
      121 plpggfpggq mpsqypggqp typsqpatvt qvtqgtirpa anfdairdae ilrkamkgfg
      181 tdeqaivdvv anrsndqrqk ikaafktsyg kdlikdlkse lsgnmeelil alfmpptyyd
      241 awslrkamqg agtqervlie ilctrtnqei reivrcyqse fgrdlekdir sdtsghferl
      301 lvsmcqgnrd enqsinhqma qedaqrlyqa gegrlgtdes cfnmilatrs fpqlratmea
      361 ysrmanrdll ssvsrefsgy vesglktilq calnrpaffa erlyyamkga gtddstlvri
      421 vvtrseidlv qikqmfaqmy qktlgtmiag dtsgdyrrll laivgq
//
LOCUS       NP_001171658             511 aa            linear   PRI 18-DEC-2022
DEFINITION  GPI transamidase component PIG-T isoform 3 precursor [Homo
            sapiens].
ACCESSION   NP_001171658
VERSION     NP_001171658.1
DBSOURCE    REFSEQ: accession NM_001184729.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 511)
  AUTHORS   Wu F, Goldenberg PC and Mukai S.
  TITLE     Bilateral anterior segment dysgenesis and peripheral avascular
            retina with tractional retinal detachment in an infant with
            multiple congenital anomalies-hypotony-seizures syndrome 3
  JOURNAL   Ophthalmic Genet 42 (3), 334-337 (2021)
   PUBMED   33620284
  REMARK    GeneRIF: Bilateral anterior segment dysgenesis and peripheral
            avascular retina with tractional retinal detachment in an infant
            with multiple congenital anomalies-hypotony-seizures syndrome 3.
REFERENCE   2  (residues 1 to 511)
  AUTHORS   Jezela-Stanek A, Szczepanik E, Mierzewska H, Rydzanicz M, Rutkowska
            K, Knaus A, Smigiel R, Stepniak I, Markiewicz MG, Boniel S, Krawitz
            P and Ploski R.
  TITLE     Evidence of the milder phenotypic spectrum of c.1582G>A PIGT
            variant: Delineation based on seven novel Polish patients
  JOURNAL   Clin Genet 98 (5), 468-476 (2020)
   PUBMED   32725661
  REMARK    GeneRIF: Evidence of the milder phenotypic spectrum of c.1582G>A
            PIGT variant: Delineation based on seven novel Polish patients.
REFERENCE   3  (residues 1 to 511)
  AUTHORS   Kohashi K, Ishiyama A, Yuasa S, Tanaka T, Miya K, Adachi Y, Sato N,
            Saitsu H, Ohba C, Matsumoto N, Murakami Y, Kinoshita T, Sugai K and
            Sasaki M.
  TITLE     Epileptic apnea in a patient with inherited
            glycosylphosphatidylinositol anchor deficiency and PIGT mutations
  JOURNAL   Brain Dev 40 (1), 53-57 (2018)
   PUBMED   28728837
  REMARK    GeneRIF: Whole-exome sequencing revealed compound heterozygous
            mutations (c.250G > T, p.Glu84X and c.1096G > T, p.Gly366Trp) in
            PIGT (NM_015937.5), which were confirmed using Sanger sequencing.
            Thus inherited GPI anchor deficiency associated with these PIGT
            mutations was diagnosed
REFERENCE   4  (residues 1 to 511)
  AUTHORS   Pagnamenta AT, Murakami Y, Taylor JM, Anzilotti C, Howard MF,
            Miller V, Johnson DS, Tadros S, Mansour S, Temple IK, Firth R,
            Rosser E, Harrison RE, Kerr B, Popitsch N, Kinoshita T, Taylor JC
            and Kini U.
  CONSRTM   DDD Study
  TITLE     Analysis of exome data for 4293 trios suggests GPI-anchor
            biogenesis defects are a rare cause of developmental disorders
  JOURNAL   Eur J Hum Genet 25 (6), 669-679 (2017)
   PUBMED   28327575
  REMARK    GeneRIF: PIGT-knockout HEK293 cells showed that p.(E237Q) results
            in a small reduction in the amount of CD59 anchored to the cell
            membrane.
REFERENCE   5  (residues 1 to 511)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (residues 1 to 511)
  AUTHORS   Ohishi K, Nagamune K, Maeda Y and Kinoshita T.
  TITLE     Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and
            PIG-T, form a functionally important intermolecular disulfide
            bridge
  JOURNAL   J Biol Chem 278 (16), 13959-13967 (2003)
   PUBMED   12582175
  REMARK    GeneRIF: GPI8 and PIG-T form a functionally important
            intermolecular disulfide bridge
REFERENCE   7  (residues 1 to 511)
  AUTHORS   Vainauskas S, Maeda Y, Kurniawan H, Kinoshita T and Menon AK.
  TITLE     Structural requirements for the recruitment of Gaa1 into a
            functional glycosylphosphatidylinositol transamidase complex
  JOURNAL   J Biol Chem 277 (34), 30535-30542 (2002)
   PUBMED   12052837
REFERENCE   8  (residues 1 to 511)
  AUTHORS   Ohishi K, Inoue N and Kinoshita T.
  TITLE     PIG-S and PIG-T, essential for GPI anchor attachment to proteins,
            form a complex with GAA1 and GPI8
  JOURNAL   EMBO J 20 (15), 4088-4098 (2001)
   PUBMED   11483512
REFERENCE   9  (residues 1 to 511)
  AUTHORS   Fossey SC, Mychaleckyj JC, Pendleton JK, Snyder JR, Bensen JT,
            Hirakawa S, Rich SS, Freedman BI and Bowden DW.
  TITLE     A high-resolution 6.0-megabase transcript map of the type 2
            diabetes susceptibility region on human chromosome 20
  JOURNAL   Genomics 76 (1-3), 45-57 (2001)
   PUBMED   11549316
REFERENCE   10 (residues 1 to 511)
  AUTHORS   Ploug M, Ronne E, Behrendt N, Jensen AL, Blasi F and Dano K.
  TITLE     Cellular receptor for urokinase plasminogen activator.
            Carboxyl-terminal processing and membrane anchoring by
            glycosyl-phosphatidylinositol
  JOURNAL   J Biol Chem 266 (3), 1926-1933 (1991)
   PUBMED   1846368
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK225517.1 and AL121742.1.
            
            Summary: This gene encodes a protein that is involved in
            glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The
            GPI-anchor is a glycolipid found on many blood cells and serves to
            anchor proteins to the cell surface. This protein is an essential
            component of the multisubunit enzyme, GPI transamidase. GPI
            transamidase mediates GPI anchoring in the endoplasmic reticulum,
            by catalyzing the transfer of fully assembled GPI units to
            proteins. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, May 2012].
            
            Transcript Variant: This variant (3) lacks an exon in the coding
            region, but maintains the reading frame, compared to variant 1. The
            encoded isoform (3) is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK225517.1, SRR3476690.1108432.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..511
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     Protein         1..511
                     /product="GPI transamidase component PIG-T isoform 3
                     precursor"
                     /note="neurotrophin-regulated neuronal
                     development-associated protein; GPI transamidase subunit;
                     GPI transamidase component PIG-T;
                     phosphatidylinositol-glycan biosynthesis class T protein"
                     /calculated_mol_wt=55895
     sig_peptide     1..21
                     /calculated_mol_wt=2111
     mat_peptide     22..511
                     /product="GPI transamidase component PIG-T isoform 3"
                     /calculated_mol_wt=55895
     Region          32..498
                     /region_name="Gpi16"
                     /note="Gpi16 subunit, GPI transamidase component;
                     pfam04113"
                     /db_xref="CDD:427719"
     Site            164
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q969N2.1)"
     Site            291
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q969N2.1)"
     Site            327
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q969N2.1)"
     CDS             1..511
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /coded_by="NM_001184729.3:17..1552"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS54465.1"
                     /db_xref="GeneID:51604"
                     /db_xref="HGNC:HGNC:14938"
                     /db_xref="MIM:610272"
ORIGIN      
        1 maaamplall vllllgpggw claepprdsl reelvitplp sgdvaatfqf rtrwdselqr
       61 egvshyrlfp kalgqlisky slrelhlsft qgfwrtrywg ppflqapsga elwvwfqdtv
      121 tdvdkswkel snvlsgifca slnfidstnt vtptasfkpl glandtdhyf lryavlprev
      181 vctenltpwk kllpcsskag lsvllkadrl fhtsyhsqav hirpvcrnar ctsiswelrq
      241 tlsvvfdafi tgqgkkdwsl frmfsrtlte pcplasesrv yvdittynqd netlevhppp
      301 tttyqdvilg trktyaiydl ldtaminnsr nlniqlkwkr ppengyihyq paqdrlqphl
      361 lemliqlpan svtkvsiqfe rallkwteyt pdpnhgfyvs psvlsalvps mvaakpvdwe
      421 esplfnslfp vsdgsnyfvr lytepllvnl ptpdfsmpyn vicltctvva vcygsfynll
      481 trtfhieepr tgglakrlan lirrargvpp l
//
LOCUS       NP_904324               1068 aa            linear   PRI 18-DEC-2022
DEFINITION  ubiquitin-protein ligase E3B isoform 1 [Homo sapiens].
ACCESSION   NP_904324
VERSION     NP_904324.1
DBSOURCE    REFSEQ: accession NM_183415.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1068)
  AUTHORS   Li K, Wang F, Yang ZN, Zhang TT, Yuan YF, Zhao CX, Yeerjiang Z, Cui
            B, Hua F, Lv XX, Zhang XW, Yu JJ, Liu SS, Yu JM, Shang S, Xiao Y
            and Hu ZW.
  TITLE     TRIB3 promotes MYC-associated lymphoma development through
            suppression of UBE3B-mediated MYC degradation
  JOURNAL   Nat Commun 11 (1), 6316 (2020)
   PUBMED   33298911
  REMARK    GeneRIF: TRIB3 promotes MYC-associated lymphoma development through
            suppression of UBE3B-mediated MYC degradation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1068)
  AUTHORS   Zaki MS, Otaify GA, Ismail S, Issa MY, El-Ruby MO, Sadek AA, Ashaat
            EA, El Saeidi SA, Aglan MS, Temtamy S and Abdel-Hamid MS.
  TITLE     Blepharophimosis-ptosis-intellectual disability syndrome: A report
            of nine Egyptian patients with further expansion of phenotypic and
            mutational spectrum
  JOURNAL   Am J Med Genet A 182 (12), 2857-2866 (2020)
   PUBMED   32949109
  REMARK    GeneRIF: Blepharophimosis-ptosis-intellectual disability syndrome:
            A report of nine Egyptian patients with further expansion of
            phenotypic and mutational spectrum.
REFERENCE   3  (residues 1 to 1068)
  AUTHORS   Yilmaz R, Szakszon K, Altmann A, Altunoglu U, Senturk L, McGuire M,
            Calabrese O, Madan-Khetarpal S, Basel-Vanagaite L and Borck G.
  TITLE     Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and
            clinical features in four unrelated patients
  JOURNAL   Am J Med Genet A 176 (1), 187-193 (2018)
   PUBMED   29160006
  REMARK    GeneRIF: we present four patients with five novel UBE3B mutations
            and propose the inclusion of clinical features to the
            characteristics of Kaufman oculocerebrofacial syndrome, including
            prominence of the cheeks and limb anomalies.
REFERENCE   4  (residues 1 to 1068)
  AUTHORS   Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A,
            Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC and Campeau
            PM.
  TITLE     Kaufman oculo-cerebro-facial syndrome in a child with small and
            absent terminal phalanges and absent nails
  JOURNAL   J Hum Genet 62 (4), 465-471 (2017)
   PUBMED   28003643
  REMARK    GeneRIF: Sanger sequencing was negative for the DOORS syndrome gene
            TBC1D24 but exome sequencing identified a homozygous deletion in
            UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the
            terminal portion of the HECT domain
REFERENCE   5  (residues 1 to 1068)
  AUTHORS   Braganza A, Li J, Zeng X, Yates NA, Dey NB, Andrews J, Clark J,
            Zamani L, Wang XH, St Croix C, O'Sullivan R, Garcia-Exposito L,
            Brodsky JL and Sobol RW.
  TITLE     UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3
            Ubiquitin Ligase
  JOURNAL   J Biol Chem 292 (6), 2470-2484 (2017)
   PUBMED   28003368
  REMARK    GeneRIF: studies demonstrate that UBE3B is an E3 ubiquitin ligase
            and reveal that the enzyme is regulated by calmodulin. Furthermore,
            the modulation of UBE3B via calmodulin and calcium implicates a
            role for calcium signaling in mitochondrial protein ubiquitylation,
            protein turnover, and disease
            GeneRIF: The E3 ligase activity of UBE3B is regulated by its
            interaction with calmodulin via the N-terminal IQ domain.
REFERENCE   6  (residues 1 to 1068)
  AUTHORS   Szafranski K, Schindler S, Taudien S, Hiller M, Huse K, Jahn N,
            Schreiber S, Backofen R and Platzer M.
  TITLE     Violating the splicing rules: TG dinucleotides function as
            alternative 3' splice sites in U2-dependent introns
  JOURNAL   Genome Biol 8 (8), R154 (2007)
   PUBMED   17672918
  REMARK    GeneRIF: the apparent occurrence of an unusual TG 3' splice site in
            intron 25 is discussed
REFERENCE   7  (residues 1 to 1068)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   8  (residues 1 to 1068)
  AUTHORS   Gong TW, Huang L, Warner SJ and Lomax MI.
  TITLE     Characterization of the human UBE3B gene: structure, expression,
            evolution, and alternative splicing
  JOURNAL   Genomics 82 (2), 143-152 (2003)
   PUBMED   12837265
  REMARK    GeneRIF: UBE3B is a novel E3 ligase, with a HECT-domain which
            constitutes the active site for ubiquitin transfer
REFERENCE   9  (residues 1 to 1068)
  AUTHORS   Lomax MI, Gong TW, Cho Y, Huang L, Oh SH, Adler HJ, Raphael Y and
            Altschuler RA.
  TITLE     Differential Gene Expression Following Noise Trauma in Birds and
            Mammals
  JOURNAL   Noise Health 3 (11), 19-35 (2001)
   PUBMED   12689446
REFERENCE   10 (residues 1 to 1068)
  AUTHORS   Lomax MI, Huang L, Cho Y, Gong TL and Altschuler RA.
  TITLE     Differential display and gene arrays to examine auditory plasticity
  JOURNAL   Hear Res 147 (1-2), 293-302 (2000)
   PUBMED   10962193
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA771082.1, BC032301.1,
            AF251046.2, BQ889238.1 and DR760197.1.
            
            Summary: The modification of proteins with ubiquitin is an
            important cellular mechanism for targeting abnormal or short-lived
            proteins for degradation. Ubiquitination involves at least three
            classes of enzymes: E1 ubiquitin-activating enzymes, E2
            ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases.
            This gene encodes a member of the E3 ubiquitin-conjugating enzyme
            family which accepts ubiquitin from an E2 ubiquitin-conjugating
            enzyme and transfers the ubiquitin to the targeted substrates. A
            HECT (homology to E6-AP C-terminus) domain in the C-terminus of the
            longer isoform of this protein is the catalytic site of ubiquitin
            transfer and forms a complex with E2 conjugases. Shorter isoforms
            of this protein which lack the C-terminal HECT domain are therefore
            unlikely to bind E2 enzymes. Alternatively spliced transcript
            variants encoding distinct isoforms have been identified for this
            gene. [provided by RefSeq, Jul 2012].
            
            Transcript Variant: This variant (3) uses an alternate splice site
            in the 5' UTR, as compared to variant 1. Variants 1 and 3 encode
            the same protein (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX537403.1, SRR1803612.148695.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1068
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     Protein         1..1068
                     /product="ubiquitin-protein ligase E3B isoform 1"
                     /EC_number="2.3.2.26"
                     /note="HECT-type ubiquitin transferase E3B"
                     /calculated_mol_wt=122968
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q7Z3V4.3)"
     Site            419
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q7Z3V4.3)"
     Region          682..1066
                     /region_name="HECTc"
                     /note="HECT domain; C-terminal catalytic domain of a
                     subclass of Ubiquitin-protein ligase (E3). It binds
                     specific ubiquitin-conjugating enzymes (E2), accepts
                     ubiquitin from E2, transfers ubiquitin to substrate lysine
                     side chains, and transfers additional...; cd00078"
                     /db_xref="CDD:238033"
     Site            order(687,722,733,793,975,1030..1031,1034..1038,1058,1065)
                     /site_type="active"
                     /note="catalytic cleft [active]"
                     /db_xref="CDD:238033"
     Site            order(826,829..830,832..833,836,843,845,849..850,852,857,
                     862,879,883)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..1068
                     /gene="UBE3B"
                     /gene_synonym="BPIDS; KOS"
                     /coded_by="NM_183415.3:259..3465"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS9129.1"
                     /db_xref="GeneID:89910"
                     /db_xref="HGNC:HGNC:13478"
                     /db_xref="MIM:608047"
ORIGIN      
        1 mftlsqtsra wfidrarqar eerlvqkere raavviqahv rsflcrsrlq rdirreiddf
       61 fkaddpestk rsalcifkia rkllflfrik ednerfeklc rsilssmdae nepkvwyvsl
      121 acskdltllw iqqiknilwy ccdflkqlkp eilqdsrlit lyltmlvtft dtstwkilrg
      181 kgeslrpamn hicanimghl nqhgfysvlq illtrglarp rpclskgtlt aafslalrpv
      241 iaaqfsdnli rpflihimsv palvthlstv tperltvles hdmlrkfiif lrdqdrcrdv
      301 ceslegchtl clmgnllhlg slsprvleee tdgfvslltq tlcycrkyvs qkksnlthwh
      361 pvlgwfsqsv dyglnesmhl itkqlqflwg vpliriffcd ilskkllesq epahaqpasp
      421 qnvlpvksll krafqksasv rnilrpvggk rvdsaevqkv cnicvlyqts lttltqirlq
      481 iltgltyldd llpklwafic elgphgglkl fleclnndte eskqllamlm lfcdcsrhli
      541 tilddievye eqisfkleel vtissflnsf vfkmiwdgiv enakgetlel fqsvhgwlmv
      601 lyerdcrrrf tpedhwlrkd lkpsvlfqel drdrkraqli lqyiphviph knrvllfrtm
      661 vtkekeklgl vetssasphv thitirrsrm ledgyeqlrq lsqhamkgvi rvkfvndlgv
      721 deagidqdgv fkefleeiik rvfdpalnlf kttsgderly psptsyihen ylqlfefvgk
      781 mlgkavyegi vvdvpfasff lsqllghhhs vfyssvdelp sldsefyknl tsikrydgdi
      841 tdlgltlsyd edvmgqlvch elipggktip vtnenkisyi hlmahfrmht qiknqtaali
      901 sgfrsiikpe wirmfstpel qrlisgdnae idledlkkht vyyggfhgsh rviiwlwdil
      961 asdftpdera mflkfvtscs rppllgfayl kppfsircve vsddqdtgdt lgsvlrgfft
     1021 irkrepggrl ptsstcfnll klpnyskksv lreklryais mntgfels
//
LOCUS       NP_005352                314 aa            linear   PRI 23-DEC-2022
DEFINITION  melanoma-associated antigen 2 [Homo sapiens].
ACCESSION   NP_005352
VERSION     NP_005352.1
DBSOURCE    REFSEQ: accession NM_005361.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 314)
  AUTHORS   Saeednejad Zanjani L, Razmi M, Fattahi F, Kalantari E, Abolhasani
            M, Saki S, Madjd Z and Mohsenzadegan M.
  TITLE     Overexpression of melanoma-associated antigen A2 has a clinical
            significance in embryonal carcinoma and is associated with tumor
            progression
  JOURNAL   J Cancer Res Clin Oncol 148 (3), 609-631 (2022)
   PUBMED   34837545
  REMARK    GeneRIF: Overexpression of melanoma-associated antigen A2 has a
            clinical significance in embryonal carcinoma and is associated with
            tumor progression.
REFERENCE   2  (residues 1 to 314)
  AUTHORS   Khalvandi A, Abolhasani M, Madjd Z, Sharifi L, Bakhshi P and
            Mohsenzadegan M.
  TITLE     Reduced cytoplasmic expression of MAGE-A2 predicts tumor
            aggressiveness and survival: an immunohistochemical analysis
  JOURNAL   World J Urol 39 (6), 1831-1843 (2021)
   PUBMED   32772147
  REMARK    GeneRIF: Reduced cytoplasmic expression of MAGE-A2 predicts tumor
            aggressiveness and survival: an immunohistochemical analysis.
REFERENCE   3  (residues 1 to 314)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 314)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 314)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 314)
  AUTHORS   Brasseur F, Rimoldi D, Lienard D, Lethe B, Carrel S, Arienti F,
            Suter L, Vanwijck R, Bourlond A, Humblet Y et al.
  TITLE     Expression of MAGE genes in primary and metastatic cutaneous
            melanoma
  JOURNAL   Int J Cancer 63 (3), 375-380 (1995)
   PUBMED   7591235
REFERENCE   7  (residues 1 to 314)
  AUTHORS   Gaugler B, Van den Eynde B, van der Bruggen P, Romero P, Gaforio
            JJ, De Plaen E, Lethe B, Brasseur F and Boon T.
  TITLE     Human gene MAGE-3 codes for an antigen recognized on a melanoma by
            autologous cytolytic T lymphocytes
  JOURNAL   J Exp Med 179 (3), 921-930 (1994)
   PUBMED   8113684
REFERENCE   8  (residues 1 to 314)
  AUTHORS   De Smet C, Lurquin C, van der Bruggen P, De Plaen E, Brasseur F and
            Boon T.
  TITLE     Sequence and expression pattern of the human MAGE2 gene
  JOURNAL   Immunogenetics 39 (2), 121-129 (1994)
   PUBMED   8276455
REFERENCE   9  (residues 1 to 314)
  AUTHORS   De Plaen E, Arden K, Traversari C, Gaforio JJ, Szikora JP, De Smet
            C, Brasseur F, van der Bruggen P, Lethe B, Lurquin C et al.
  TITLE     Structure, chromosomal localization, and expression of 12 genes of
            the MAGE family
  JOURNAL   Immunogenetics 40 (5), 360-369 (1994)
   PUBMED   7927540
REFERENCE   10 (residues 1 to 314)
  AUTHORS   van der Bruggen P, Traversari C, Chomez P, Lurquin C, De Plaen E,
            Van den Eynde B, Knuth A and Boon T.
  TITLE     A gene encoding an antigen recognized by cytolytic T lymphocytes on
            a human melanoma
  JOURNAL   Science 254 (5038), 1643-1647 (1991)
   PUBMED   1840703
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC244102.3.
            
            Summary: This gene is a member of the MAGEA gene family. The
            members of this family encode proteins with 50 to 80% sequence
            identity to each other. The promoters and first exons of the MAGEA
            genes show considerable variability, suggesting that the existence
            of this gene family enables the same function to be expressed under
            different transcriptional controls. The MAGEA genes are clustered
            at chromosomal location Xq28. They have been implicated in some
            hereditary disorders, such as dyskeratosis congenita. This gene has
            two identical copies at different loci. Alternatively spliced
            transcript variants encoding the same protein have been identified
            for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) differs in the 5' UTR,
            compared to variant 3. Variants 1 through 7 encode the same
            protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..314
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..314
                     /product="melanoma-associated antigen 2"
                     /note="melanoma antigen 2; cancer/testis antigen family 1,
                     member 2; melanoma antigen family A, 2; MAGE-2 antigen;
                     cancer/testis antigen 1.2; melanoma antigen family A2"
                     /calculated_mol_wt=34924
     Region          1..69
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P43356.1)"
     Region          5..95
                     /region_name="MAGE_N"
                     /note="Melanoma associated antigen family N terminal;
                     pfam12440"
                     /db_xref="CDD:432554"
     Site            64
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P43355; propagated from
                     UniProtKB/Swiss-Prot (P43356.1)"
     Region          116..280
                     /region_name="MAGE"
                     /note="MAGE family; pfam01454"
                     /db_xref="CDD:426270"
     CDS             1..314
                     /gene="MAGEA2"
                     /gene_synonym="CT1.2; MAGE2; MAGEA2A"
                     /coded_by="NM_005361.3:524..1468"
                     /db_xref="CCDS:CCDS76049.1"
                     /db_xref="GeneID:4101"
                     /db_xref="HGNC:HGNC:6800"
                     /db_xref="MIM:300173"
ORIGIN      
        1 mpleqrsqhc kpeeglearg ealglvgaqa pateeqqtas ssstlvevtl gevpaadsps
       61 pphspqgass fsttinytlw rqsdegssnq eeegprmfpd lesefqaais rkmvelvhfl
      121 llkyrarepv tkaemlesvl rncqdffpvi fskaseylql vfgievvevv pishlyilvt
      181 clglsydgll gdnqvmpktg lliivlaiia iegdcapeek iweelsmlev fegredsvfa
      241 hprkllmqdl vqenyleyrq vpgsdpacye flwgpralie tsyvkvlhht lkiggephis
      301 ypplheralr egee
//
LOCUS       NP_002478                321 aa            linear   PRI 25-DEC-2022
DEFINITION  necdin [Homo sapiens].
ACCESSION   NP_002478
VERSION     NP_002478.1
DBSOURCE    REFSEQ: accession NM_002487.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 321)
  AUTHORS   Sanderson MR, Badior KE, Fahlman RP and Wevrick R.
  TITLE     The necdin interactome: evaluating the effects of amino acid
            substitutions and cell stress using proximity-dependent
            biotinylation (BioID) and mass spectrometry
  JOURNAL   Hum Genet 139 (12), 1513-1529 (2020)
   PUBMED   32529326
  REMARK    GeneRIF: The necdin interactome: evaluating the effects of amino
            acid substitutions and cell stress using proximity-dependent
            biotinylation (BioID) and mass spectrometry.
REFERENCE   2  (residues 1 to 321)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 321)
  AUTHORS   Polvora-Brandao D, Joaquim M, Godinho I, Aprile D, Alvaro AR,
            Onofre I, Raposo AC, Pereira de Almeida L, Duarte ST and da Rocha
            ST.
  TITLE     Loss of hierarchical imprinting regulation at the
            Prader-Willi/Angelman syndrome locus in human iPSCs
  JOURNAL   Hum Mol Genet 27 (23), 3999-4011 (2018)
   PUBMED   30102380
  REMARK    GeneRIF: We focused on three important regulatory DNA elements
            which are all differentially methylated regions (DMRs), methylated
            on the maternal allele: the PWS imprinting center (PWS-IC), which
            is a germline DMR and the somatic NDN and MKRN3 DMRs,
            hierarchically controlled by PWS-IC.
REFERENCE   4  (residues 1 to 321)
  AUTHORS   Crespi B, Read S, Salminen I and Hurd P.
  TITLE     A genetic locus for paranoia
  JOURNAL   Biol Lett 14 (1) (2018)
   PUBMED   29343559
  REMARK    GeneRIF: the single-nucleotide polymorphism rs850807, which is
            putatively functional and linked with MAGEL2 and NDN Genetic
            variation in rs850807 was strongly and exclusively associated with
            the ideas of reference subscale of the schizophrenia spectrum,
            which is best typified as paranoia
REFERENCE   5  (residues 1 to 321)
  AUTHORS   Lau JC, Hanel ML and Wevrick R.
  TITLE     Tissue-specific and imprinted epigenetic modifications of the human
            NDN gene
  JOURNAL   Nucleic Acids Res 32 (11), 3376-3382 (2004)
   PUBMED   15247330
  REMARK    GeneRIF: Tissue-specific gene expression regulation and imprinted
            epigenetic modifications of the human NDN gene.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 321)
  AUTHORS   Nakada Y, Taniura H, Uetsuki T, Inazawa J and Yoshikawa K.
  TITLE     The human chromosomal gene for necdin, a neuronal growth
            suppressor, in the Prader-Willi syndrome deletion region
  JOURNAL   Gene 213 (1-2), 65-72 (1998)
   PUBMED   9630521
REFERENCE   7  (residues 1 to 321)
  AUTHORS   Taniura H, Taniguchi N, Hara M and Yoshikawa K.
  TITLE     Necdin, a postmitotic neuron-specific growth suppressor, interacts
            with viral transforming proteins and cellular transcription factor
            E2F1
  JOURNAL   J Biol Chem 273 (2), 720-728 (1998)
   PUBMED   9422723
REFERENCE   8  (residues 1 to 321)
  AUTHORS   Jay P, Rougeulle C, Massacrier A, Moncla A, Mattei MG, Malzac P,
            Roeckel N, Taviaux S, Lefranc JL, Cau P, Berta P, Lalande M and
            Muscatelli F.
  TITLE     The human necdin gene, NDN, is maternally imprinted and located in
            the Prader-Willi syndrome chromosomal region
  JOURNAL   Nat Genet 17 (3), 357-361 (1997)
   PUBMED   9354807
REFERENCE   9  (residues 1 to 321)
  AUTHORS   MacDonald HR and Wevrick R.
  TITLE     The necdin gene is deleted in Prader-Willi syndrome and is
            imprinted in human and mouse
  JOURNAL   Hum Mol Genet 6 (11), 1873-1878 (1997)
   PUBMED   9302265
  REMARK    GeneRIF: The necdin gene is imprinted, with preferential expression
            from the paternal allele in human and mouse.
REFERENCE   10 (residues 1 to 321)
  AUTHORS   Aizawa T, Maruyama K, Kondo H and Yoshikawa K.
  TITLE     Expression of necdin, an embryonal carcinoma-derived nuclear
            protein, in developing mouse brain
  JOURNAL   Brain Res Dev Brain Res 68 (2), 265-274 (1992)
   PUBMED   1394972
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124309.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This intronless gene is located in the Prader-Willi
            syndrome deletion region. It is an imprinted gene and is expressed
            exclusively from the paternal allele. Studies in mouse suggest that
            the protein encoded by this gene may suppress growth in postmitotic
            neurons. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: SRR3476690.434425.1, DRR138527.509882.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 9302265
            MANE Ensembl match     :: ENST00000649030.2/ ENSP00000497916.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..321
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.2"
     Protein         1..321
                     /product="necdin"
                     /note="necdin homolog; Prader-Willi syndrome chromosome
                     region; necdin, melanoma antigen (MAGE) family member;
                     necdin-like protein"
                     /calculated_mol_wt=35955
     Region          1..96
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99608.1)"
     Region          105..273
                     /region_name="MAGE"
                     /note="MAGE family; pfam01454"
                     /db_xref="CDD:426270"
     CDS             1..321
                     /gene="NDN"
                     /gene_synonym="HsT16328; PWCR"
                     /coded_by="NM_002487.3:89..1054"
                     /db_xref="CCDS:CCDS10014.1"
                     /db_xref="GeneID:4692"
                     /db_xref="HGNC:HGNC:7675"
                     /db_xref="MIM:602117"
ORIGIN      
        1 mseqskdlsd pnfaaeapns evhsspgvse gvppsatlae pqspplgpta apqaapppqa
       61 pndegdpkal qqaaeegrah qapsaaqpgp appapaqlvq kahelmwyvl vkdqkkmiiw
      121 fpdmvkdvig sykkwcrsil rrtslilarv fglhlrltsl htmefalvka lepeeldrva
      181 lsnrmpmtgl llmilsliyv kgrgaresav wnvlrilglr pwkkhstfgd vrkliteefv
      241 qmnylkyqrv pyveppeyef fwgsrasrei tkmqimefla rvfkkdpqaw psryrealee
      301 aralreanpt ahyprssvse d
//
LOCUS       NP_001263366             375 aa            linear   PRI 25-DEC-2022
DEFINITION  ATP-sensitive inward rectifier potassium channel 15 [Homo sapiens].
ACCESSION   NP_001263366
VERSION     NP_001263366.1
DBSOURCE    REFSEQ: accession NM_001276437.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 375)
  AUTHORS   Bentley SR, Guella I, Sherman HE, Neuendorf HM, Sykes AM, Fowdar
            JY, Silburn PA, Wood SA, Farrer MJ and Mellick GD.
  TITLE     Hunting for Familial Parkinson's Disease Mutations in the Post
            Genome Era
  JOURNAL   Genes (Basel) 12 (3), 430 (2021)
   PUBMED   33802862
  REMARK    GeneRIF: Hunting for Familial Parkinson's Disease Mutations in the
            Post Genome Era.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 375)
  AUTHORS   Nakamura S, Kanda M, Koike M, Shimizu D, Umeda S, Hattori N,
            Hayashi M, Tanaka C, Kobayashi D, Yamada S, Omae K and Kodera Y.
  TITLE     KCNJ15 Expression and Malignant Behavior of Esophageal Squamous
            Cell Carcinoma
  JOURNAL   Ann Surg Oncol 27 (7), 2559-2568 (2020)
   PUBMED   32052303
  REMARK    GeneRIF: KCNJ15 Expression and Malignant Behavior of Esophageal
            Squamous Cell Carcinoma.
REFERENCE   3  (residues 1 to 375)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 375)
  AUTHORS   Alves da Silva AF, Machado FB, Pavarino EC, Biselli-Perico JM,
            Zampieri BL, da Silva Francisco Junior R, Mozer Rodrigues PT, Terra
            Machado D, Santos-Reboucas CB, Gomes Fernandes M, Chuva de Sousa
            Lopes SM, Lopes Rios AF and Medina-Acosta E.
  TITLE     Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and
            -Independent Manners
  JOURNAL   PLoS One 11 (4), e0154108 (2016)
   PUBMED   27100087
  REMARK    GeneRIF: RNA-seq evidence of biallelic expression of KCNJ15 and 10
            neighboring genes in at least one primary human tissue tested
            indicates that the expression of KCNJ15 is uncoupled from the
            control of the maternally inherited 5mCpG imprints at the WRB
            differentially methylated region (DMR) in disomic controls or
            trisomy (Down syndrome) individuals.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 375)
  AUTHORS   Nakajima KI, Zhu K, Sun YH, Hegyi B, Zeng Q, Murphy CJ, Small JV,
            Chen-Izu Y, Izumiya Y, Penninger JM and Zhao M.
  TITLE     KCNJ15/Kir4.2 couples with polyamines to sense weak extracellular
            electric fields in galvanotaxis
  JOURNAL   Nat Commun 6, 8532 (2015)
   PUBMED   26449415
  REMARK    GeneRIF: KCNJ15 couples with polyamines in sensing weak electric
            fields.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 375)
  AUTHORS   Pearson WL, Dourado M, Schreiber M, Salkoff L and Nichols CG.
  TITLE     Expression of a functional Kir4 family inward rectifier K+ channel
            from a gene cloned from mouse liver
  JOURNAL   J Physiol 514 (Pt 3) (Pt 3), 639-653 (1999)
   PUBMED   9882736
REFERENCE   7  (residues 1 to 375)
  AUTHORS   Kurschner C, Mermelstein PG, Holden WT and Surmeier DJ.
  TITLE     CIPP, a novel multivalent PDZ domain protein, selectively interacts
            with Kir4.0 family members, NMDA receptor subunits, neurexins, and
            neuroligins
  JOURNAL   Mol Cell Neurosci 11 (3), 161-172 (1998)
   PUBMED   9647694
REFERENCE   8  (residues 1 to 375)
  AUTHORS   Gosset P, Ghezala GA, Korn B, Yaspo ML, Poutska A, Lehrach H, Sinet
            PM and Creau N.
  TITLE     A new inward rectifier potassium channel gene (KCNJ15) localized on
            chromosome 21 in the Down syndrome chromosome region 1 (DCR1)
  JOURNAL   Genomics 44 (2), 237-241 (1997)
   PUBMED   9299242
REFERENCE   9  (residues 1 to 375)
  AUTHORS   Shuck ME, Piser TM, Bock JH, Slightom JL, Lee KS and Bienkowski MJ.
  TITLE     Cloning and characterization of two K+ inward rectifier (Kir) 1.1
            potassium channel homologs from human kidney (Kir1.2 and Kir1.3)
  JOURNAL   J Biol Chem 272 (1), 586-593 (1997)
   PUBMED   8995301
REFERENCE   10 (residues 1 to 375)
  AUTHORS   Ohira M, Seki N, Nagase T, Suzuki E, Nomura N, Ohara O, Hattori M,
            Sakaki Y, Eki T, Murakami Y, Saito T, Ichikawa H and Ohki M.
  TITLE     Gene identification in 1.6-Mb region of the Down syndrome region on
            chromosome 21
  JOURNAL   Genome Res 7 (1), 47-58 (1997)
   PUBMED   9037601
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA670230.1, DA675388.1,
            BC013327.1, AI344546.1, AI453386.1 and AP001422.1.
            
            Summary: Potassium channels are present in most mammalian cells,
            where they participate in a wide range of physiologic responses.
            The protein encoded by this gene is an integral membrane protein
            and inward-rectifier type potassium channel. The encoded protein
            has a greater tendency to allow potassium to flow into a cell
            rather than out of a cell. Eight transcript variants encoding the
            same protein have been found for this gene. [provided by RefSeq,
            Feb 2013].
            
            Transcript Variant: This variant (6) uses an alternate splice
            junction and contains an additional exon in the 5' UTR compared to
            variant 1. All eight variants encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA670230.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154529, SAMEA2162823
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.13-q22.2"
     Protein         1..375
                     /product="ATP-sensitive inward rectifier potassium channel
                     15"
                     /note="inward rectifier K+ channel KIR4.2; inward
                     rectifier K(+) channel Kir1.3; inward rectifier K(+)
                     channel Kir4.2; potassium channel, inwardly rectifying
                     subfamily J member 15; potassium voltage-gated channel
                     subfamily J member 15"
                     /calculated_mol_wt=42446
     Region          30..171
                     /region_name="IRK"
                     /note="Inward rectifier potassium channel; pfam01007"
                     /db_xref="CDD:425984"
     Site            64..88
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99712.2)"
     Region          127..132
                     /region_name="Selectivity filter. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99712.2)"
     Site            142..163
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99712.2)"
     Site            157
                     /site_type="other"
                     /note="Role in the control of polyamine-mediated channel
                     gating and in the blocking by intracellular magnesium.
                     /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (Q99712.2)"
     Region          178..349
                     /region_name="IRK_C"
                     /note="Inward rectifier potassium channel C-terminal
                     domain; pfam17655"
                     /db_xref="CDD:435949"
     CDS             1..375
                     /gene="KCNJ15"
                     /gene_synonym="IRKK; KIR1.3; KIR4.2"
                     /coded_by="NM_001276437.2:297..1424"
                     /db_xref="CCDS:CCDS13656.1"
                     /db_xref="GeneID:3772"
                     /db_xref="HGNC:HGNC:6261"
                     /db_xref="MIM:602106"
ORIGIN      
        1 mdaihigmss tplvkhtaga glkanrprvm sksghsnvri dkvdgiylly lqdlwttvid
       61 mkwrykltlf aatfvmtwfl fgviyyaiaf ihgdlepgep isnhtpcimk vdsltgaflf
      121 slesqttigy gvrsiteecp haifllvaql vittlieifi tgtflakiar pkkraetikf
      181 shcavitkqn gklclviqva nmrkslliqc qlsgkllqth vtkegerill nqatvkfhvd
      241 sssespflil pmtfyhvlde tsplrdltpq nlkekefelv vllnatvest savcqsrtsy
      301 ipeeiywgfe fvpvvslskn gkyvadfsqf eqirkspdct fycadsekqq leekyrqedq
      361 rerelrtlll qqsnv
//
LOCUS       NP_787083                129 aa            linear   PRI 25-DEC-2022
DEFINITION  proline-rich protein 15 [Homo sapiens].
ACCESSION   NP_787083
VERSION     NP_787083.1
DBSOURCE    REFSEQ: accession NM_175887.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 129)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 129)
  AUTHORS   Gates KC, Goetzmann LN, Cantlon JD, Jeckel KM and Anthony RV.
  TITLE     Effect of proline rich 15-deficiency on trophoblast viability and
            survival
  JOURNAL   PLoS One 12 (4), e0174976 (2017)
   PUBMED   28380025
  REMARK    GeneRIF: enhances trophoblast viability and survival during early
            implantation and placentation
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 129)
  AUTHORS   Meunier D, Patra K, Smits R, Hagebarth A, Luttges A, Jaussi R,
            Wieduwilt MJ, Quintanilla-Fend L, Himmelbauer H, Fodde R and
            Fundele RH.
  TITLE     Expression analysis of proline rich 15 (Prr15) in mouse and human
            gastrointestinal tumors
  JOURNAL   Mol Carcinog 50 (1), 8-15 (2011)
   PUBMED   21061267
REFERENCE   4  (residues 1 to 129)
  AUTHORS   Purcell SH, Cantlon JD, Wright CD, Henkes LE, Seidel GE Jr and
            Anthony RV.
  TITLE     The involvement of proline-rich 15 in early conceptus development
            in sheep
  JOURNAL   Biol Reprod 81 (6), 1112-1121 (2009)
   PUBMED   19605793
  REMARK    GeneRIF: Proline-rich 15 is required for conceptus elongation and
            survival during early ovine pregnancy.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC029131.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript. All three variants encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC018144.1, BC029131.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000319694.3/ ENSP00000317836.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..129
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     Protein         1..129
                     /product="proline-rich protein 15"
                     /calculated_mol_wt=13584
     Region          1..129
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IV56.1)"
     Region          13..109
                     /region_name="ATAD4"
                     /note="ATPase family AAA domain containing 4; pfam15321"
                     /db_xref="CDD:434631"
     CDS             1..129
                     /gene="PRR15"
                     /coded_by="NM_175887.3:689..1078"
                     /db_xref="CCDS:CCDS5421.1"
                     /db_xref="GeneID:222171"
                     /db_xref="HGNC:HGNC:22310"
                     /db_xref="MIM:618344"
ORIGIN      
        1 madsgdagss gpwwksltns rkkskeaavg vpppaqpapg eptppappsp dwtsssrenq
       61 hpnllggage ppkpdklygd ksgssrrnlk isrsgrfkek rkvratllpe agrspeeagf
      121 pgdphedkq
//
LOCUS       NP_001164628             602 aa            linear   PRI 25-DEC-2022
DEFINITION  sialic acid-binding Ig-like lectin 10 isoform 3 precursor [Homo
            sapiens].
ACCESSION   NP_001164628
VERSION     NP_001164628.1
DBSOURCE    REFSEQ: accession NM_001171157.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 602)
  AUTHORS   Gao S, Liu XZ, Wu LY, Peng Z, Chen XX, Wang H, Lu Y, Zhuang Z, Tan
            Q, Hang CH and Li W.
  TITLE     Long-Term Elevated Siglec-10 in Cerebral Spinal Fluid Heralds
            Better Prognosis for Patients with Aneurysmal Subarachnoid
            Hemorrhage
  JOURNAL   Dis Markers 2022, 5382100 (2022)
   PUBMED   36188429
  REMARK    GeneRIF: Long-Term Elevated Siglec-10 in Cerebral Spinal Fluid
            Heralds Better Prognosis for Patients with Aneurysmal Subarachnoid
            Hemorrhage.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 602)
  AUTHORS   Zhang C, Zhang J, Liang F, Guo H, Gao S, Yang F, Guo H, Wang G,
            Wang W and Zhou G.
  TITLE     Innate immune checkpoint Siglec10 in cancers: mining of
            comprehensive omics data and validation in patient samples
  JOURNAL   Front Med 16 (4), 596-609 (2022)
   PUBMED   35075579
  REMARK    GeneRIF: Innate immune checkpoint Siglec10 in cancers: mining of
            comprehensive omics data and validation in patient samples.
REFERENCE   3  (residues 1 to 602)
  AUTHORS   Altevogt P, Sammar M, Huser L and Kristiansen G.
  TITLE     Novel insights into the function of CD24: A driving force in cancer
  JOURNAL   Int J Cancer 148 (3), 546-559 (2021)
   PUBMED   32790899
  REMARK    GeneRIF: Novel insights into the function of CD24: A driving force
            in cancer.
            Review article
REFERENCE   4  (residues 1 to 602)
  AUTHORS   Alborzian Deh Sheikh A, Gomaa S, Li X, Routledge M, Saigoh K,
            Numoto N, Angata T, Hitomi Y, Takematsu H, Tsuiji M, Ito N,
            Kusunoki S and Tsubata T.
  TITLE     A Guillain-Barre syndrome-associated SIGLEC10 rare variant impairs
            its recognition of gangliosides
  JOURNAL   J Autoimmun 116, 102571 (2021)
   PUBMED   33223341
  REMARK    GeneRIF: A Guillain-Barre syndrome-associated SIGLEC10 rare variant
            impairs its recognition of gangliosides.
REFERENCE   5  (residues 1 to 602)
  AUTHORS   Lenza MP, Oyenarte I, Diercks T, Quintana JI, Gimeno A, Coelho H,
            Diniz A, Peccati F, Delgado S, Bosch A, Valle M, Millet O, Abrescia
            NGA, Palazon A, Marcelo F, Jimenez-Oses G, Jimenez-Barbero J, Arda
            A and Ereno-Orbea J.
  TITLE     Structural Characterization of N-Linked Glycans in the Receptor
            Binding Domain of the SARS-CoV-2 Spike Protein and their
            Interactions with Human Lectins
  JOURNAL   Angew Chem Int Ed Engl 59 (52), 23763-23771 (2020)
   PUBMED   32915505
REFERENCE   6  (residues 1 to 602)
  AUTHORS   Szafranski K, Schindler S, Taudien S, Hiller M, Huse K, Jahn N,
            Schreiber S, Backofen R and Platzer M.
  TITLE     Violating the splicing rules: TG dinucleotides function as
            alternative 3' splice sites in U2-dependent introns
  JOURNAL   Genome Biol 8 (8), R154 (2007)
   PUBMED   17672918
  REMARK    GeneRIF: the apparent occurrence of an unusual TG 3' splice site in
            intron 11 is discussed
REFERENCE   7  (residues 1 to 602)
  AUTHORS   Kitzig F, Martinez-Barriocanal A, Lopez-Botet M and Sayos J.
  TITLE     Cloning of two new splice variants of Siglec-10 and mapping of the
            interaction between Siglec-10 and SHP-1
  JOURNAL   Biochem Biophys Res Commun 296 (2), 355-362 (2002)
   PUBMED   12163025
REFERENCE   8  (residues 1 to 602)
  AUTHORS   Li N, Zhang W, Wan T, Zhang J, Chen T, Yu Y, Wang J and Cao X.
  TITLE     Cloning and characterization of Siglec-10, a novel sialic acid
            binding member of the Ig superfamily, from human dendritic cells
  JOURNAL   J Biol Chem 276 (30), 28106-28112 (2001)
   PUBMED   11358961
REFERENCE   9  (residues 1 to 602)
  AUTHORS   Yousef GM, Ordon MH, Foussias G and Diamandis EP.
  TITLE     Molecular characterization, tissue expression, and mapping of a
            novel Siglec-like gene (SLG2) with three splice variants
  JOURNAL   Biochem Biophys Res Commun 284 (4), 900-910 (2001)
   PUBMED   11409878
REFERENCE   10 (residues 1 to 602)
  AUTHORS   Munday J, Kerr S, Ni J, Cornish AL, Zhang JQ, Nicoll G, Floyd H,
            Mattei MG, Moore P, Liu D and Crocker PR.
  TITLE     Identification, characterization and leucocyte expression of
            Siglec-10, a novel human sialic acid-binding receptor
  JOURNAL   Biochem J 355 (Pt 2), 489-497 (2001)
   PUBMED   11284738
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008750.9.
            
            Summary: SIGLECs are members of the immunoglobulin superfamily that
            are expressed on the cell surface. Most SIGLECs have 1 or more
            cytoplasmic immune receptor tyrosine-based inhibitory motifs, or
            ITIMs. SIGLECs are typically expressed on cells of the innate
            immune system, with the exception of the B-cell expressed SIGLEC6
            (MIM 604405).[supplied by OMIM, Jul 2002].
            
            Transcript Variant: This variant (3) lacks an in-frame exon in the
            CDS, as compared to variant 1. The resulting isoform (3) lacks an
            internal segment, as compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.50873.1,
                                           SRR7410570.658799.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..602
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     Protein         1..602
                     /product="sialic acid-binding Ig-like lectin 10 isoform 3
                     precursor"
                     /note="siglec-like gene 2; sialic acid binding Ig-like
                     lectin 10 Ig-like lectin 7; siglec-like protein 2"
                     /calculated_mol_wt=65023
     sig_peptide     1..16
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1613
     Region          21..140
                     /region_name="IgV_CD33"
                     /note="Immunoglobulin Variable (IgV) domain at the
                     N-terminus of CD33 and related Siglecs (sialic
                     acid-binding Ig-like lectins); cd05712"
                     /db_xref="CDD:409377"
     Region          21..45
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409377"
     Region          21..25
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409377"
     Region          28..32
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409377"
     Region          34..45
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409377"
     Region          46..55
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409377"
     Region          56..63
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409377"
     Region          56..63
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409377"
     Region          64..87
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409377"
     Region          74..77
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409377"
     Region          88..121
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409377"
     Region          89..93
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409377"
     Region          99..107
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409377"
     Site            100
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96LC7.3)"
     Region          114..122
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409377"
     Site            order(119,128..129)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:409377"
     Region          122..126
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409377"
     Region          127..140
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409377"
     Region          127..140
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409377"
     Region          146..233
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          160..164
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          177..181
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          198..202
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          212..217
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          227..230
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          261..342
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          272..276
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          285..289
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          309..313
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          320..325
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          335..338
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Site            355
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96LC7.3)"
     Site            364
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96LC7.3)"
     Region          365..444
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          376..380
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          389..393
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          411..415
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          422..427
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          437..440
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..602
                     /gene="SIGLEC10"
                     /gene_synonym="PRO940; SIGLEC-10; SLG2"
                     /coded_by="NM_001171157.2:62..1870"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS54305.1"
                     /db_xref="GeneID:89790"
                     /db_xref="HGNC:HGNC:15620"
                     /db_xref="MIM:606091"
ORIGIN      
        1 mllplllssl lggsqamdgr fwirvqesvm vpeglcisvp csfsyprqdw tgstpaygyw
       61 fkavtettkg apvatnhqsr evemstrgrf qltgdpakgn cslvirdaqm qdesqyffrv
      121 ergsyvrynf mndgfflkvt altqkpdvyi petlepgqpv tvicvfnwaf eecpppsfsw
      181 tgaalssqgt kpttshfsvl sftprpqdhn tdltchvdfs rkgvsaqrtv rlrvayaprd
      241 lvisisrdnt palepqpqgn vpyleaqkgq flrllcaads qppatlswvl qnrvlssshp
      301 wgprplglel pgvkagdsgr ytcraenrlg sqqraldlsv qyppenlrvm vsqanrtvle
      361 nlgngtslpv legqslclvc vthsspparl swtqrgqvls psqpsdpgvl elprvqvehe
      421 geftcharhp lgsqhvslsl svhykkglis tafsngaflg igitallflc laliimkilp
      481 krrtqtetpr prfsrhstil dyinvvptag plaqkrnqka tpnsprtplp pgapspeskk
      541 nqkkqyqlps fpepksstqa pesqesqeel hyatlnfpgv rprpearmpk gtqadyaevk
      601 fq
//
LOCUS       NP_001316329             272 aa            linear   PRI 26-DEC-2022
DEFINITION  vacuole membrane protein 1 isoform 7 [Homo sapiens].
ACCESSION   NP_001316329
VERSION     NP_001316329.1
DBSOURCE    REFSEQ: accession NM_001329400.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 272)
  AUTHORS   Jiang X, Fulte S, Deng F, Chen S, Xie Y, Chao X, He XC, Zhang Y, Li
            T, Li F, McCoin C, Morris EM, Thyfault J, Liu W, Li L, Davidson NO,
            Ding WX and Ni HM.
  TITLE     Lack of VMP1 impairs hepatic lipoprotein secretion and promotes
            non-alcoholic steatohepatitis
  JOURNAL   J Hepatol 77 (3), 619-631 (2022)
   PUBMED   35452693
  REMARK    GeneRIF: Lack of VMP1 impairs hepatic lipoprotein secretion and
            promotes non-alcoholic steatohepatitis.
REFERENCE   2  (residues 1 to 272)
  AUTHORS   Wei X, Yang Z, Chen G and Huang J.
  TITLE     VMP1 promotes exosome secretion and enhances 5-FU resistance in
            colon cancer cells
  JOURNAL   Tissue Cell 77, 101851 (2022)
   PUBMED   35696974
  REMARK    GeneRIF: VMP1 promotes exosome secretion and enhances 5-FU
            resistance in colon cancer cells.
REFERENCE   3  (residues 1 to 272)
  AUTHORS   Ji M, Li M, Sun L, Zhao H, Li Y, Zhou L, Yang Z, Zhao X, Qu W, Xue
            H, Zheng Z, Li Y, Deng H and Zhao YG.
  TITLE     VMP1 and TMEM41B are essential for DMV formation during
            beta-coronavirus infection
  JOURNAL   J Cell Biol 221 (6) (2022)
   PUBMED   35536318
  REMARK    GeneRIF: VMP1 and TMEM41B are essential for DMV formation during
            beta-coronavirus infection.
REFERENCE   4  (residues 1 to 272)
  AUTHORS   Vaccaro MI, Mitchell F, Rivera F and Gonzalez CD.
  TITLE     Protein expression in exocrine pancreatic diseases. Focus on VMP1
            mediated autophagy
  JOURNAL   Adv Protein Chem Struct Biol 132, 175-197 (2022)
   PUBMED   36088075
  REMARK    GeneRIF: Protein expression in exocrine pancreatic diseases. Focus
            on VMP1 mediated autophagy.
REFERENCE   5  (residues 1 to 272)
  AUTHORS   Reinisch KM, Chen XW and Melia TJ.
  TITLE     'VTT'-domain proteins VMP1 and TMEM41B function in lipid
            homeostasis globally and locally as ER scramblases
  JOURNAL   Contact (Thousand Oaks) 4 (2021)
   PUBMED   34447902
REFERENCE   6  (residues 1 to 272)
  AUTHORS   Sauermann M, Sahin O, Sultmann H, Hahne F, Blaszkiewicz S, Majety
            M, Zatloukal K, Fuzesi L, Poustka A, Wiemann S and Arlt D.
  TITLE     Reduced expression of vacuole membrane protein 1 affects the
            invasion capacity of tumor cells
  JOURNAL   Oncogene 27 (9), 1320-1326 (2008)
   PUBMED   17724469
  REMARK    GeneRIF: Endogenously expressed Vmp1 is essentially a cell membrane
            protein that is involved in cell-cell adhesion, invasion and
            metastasis.
REFERENCE   7  (residues 1 to 272)
  AUTHORS   Ropolo A, Grasso D, Pardo R, Sacchetti ML, Archange C, Lo Re A,
            Seux M, Nowak J, Gonzalez CD, Iovanna JL and Vaccaro MI.
  TITLE     The pancreatitis-induced vacuole membrane protein 1 triggers
            autophagy in mammalian cells
  JOURNAL   J Biol Chem 282 (51), 37124-37133 (2007)
   PUBMED   17940279
  REMARK    GeneRIF: VMP1 as a novel autophagy-related membrane protein
            involved in the initial steps of the mammalian cell autophagic
            process.
REFERENCE   8  (residues 1 to 272)
  AUTHORS   Starkuviene V, Liebel U, Simpson JC, Erfle H, Poustka A, Wiemann S
            and Pepperkok R.
  TITLE     High-content screening microscopy identifies novel proteins with a
            putative role in secretory membrane traffic
  JOURNAL   Genome Res 14 (10A), 1948-1956 (2004)
   PUBMED   15466293
REFERENCE   9  (residues 1 to 272)
  AUTHORS   Dusetti NJ, Jiang Y, Vaccaro MI, Tomasini R, Azizi Samir A, Calvo
            EL, Ropolo A, Fiedler F, Mallo GV, Dagorn JC and Iovanna JL.
  TITLE     Cloning and expression of the rat vacuole membrane protein 1
            (VMP1), a new gene activated in pancreas with acute pancreatitis,
            which promotes vacuole formation
  JOURNAL   Biochem Biophys Res Commun 290 (2), 641-649 (2002)
   PUBMED   11785947
REFERENCE   10 (residues 1 to 272)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK293578.1, AK024969.1,
            CA412810.1, CB216599.1, BM803108.1 and BQ002999.1.
            
            Summary: This gene encodes a transmembrane protein that plays a key
            regulatory role in the process of autophagy. The ectopic
            overexpression of the encoded protein in cultured cells triggers
            autophagy even under nutrient-rich conditions. This gene is
            overexpressed in pancreatitis affected acinar cells where the
            encoded protein mediates sequestration and degradation of
            potentially deleterious activated zymogen granules in a process
            termed, zymophagy. [provided by RefSeq, Jul 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.144640.1,
                                           SRR3476690.100194.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..272
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.1"
     Protein         1..272
                     /product="vacuole membrane protein 1 isoform 7"
                     /note="transmembrane protein 49; ectopic P-granules
                     autophagy protein 3 homolog; transport and golgi
                     organization 5 homolog"
                     /calculated_mol_wt=30349
     Region          <113..164
                     /region_name="SNARE_assoc"
                     /note="SNARE associated Golgi protein; cl00429"
                     /db_xref="CDD:444902"
     CDS             1..272
                     /gene="VMP1"
                     /gene_synonym="EPG3; TANGO5; TMEM49"
                     /coded_by="NM_001329400.2:322..1140"
                     /note="isoform 7 is encoded by transcript variant 8"
                     /db_xref="GeneID:81671"
                     /db_xref="HGNC:HGNC:29559"
                     /db_xref="MIM:611753"
ORIGIN      
        1 mdlkgphias vtlaayecns vnfpeppypd qiicpdeegt egtislwsii skvrieacmw
       61 gigtaigelp pyfmaraarl sgaepddeey qefeemleha esaqdfasra klavqklvqk
      121 vgffgilaca sipnplfdla gitcghflvp fwtffgatli gkaiikmhiq kifviitfsk
      181 hiveqmvafi gavpgigpsl qkpfqeylea qrqklhhkse mgtpqgenwl swmfeklvvv
      241 mvcyfilsii nsmaqsyakr iqqrlnseek tk
//
LOCUS       NP_001258745            1040 aa            linear   PRI 26-DEC-2022
DEFINITION  DNA cross-link repair 1A protein [Homo sapiens].
ACCESSION   NP_001258745
VERSION     NP_001258745.1
DBSOURCE    REFSEQ: accession NM_001271816.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1040)
  AUTHORS   Yosaatmadja Y, Baddock HT, Newman JA, Bielinski M, Gavard AE,
            Mukhopadhyay SMM, Dannerfjord AA, Schofield CJ, McHugh PJ and
            Gileadi O.
  TITLE     Structural and mechanistic insights into the Artemis endonuclease
            and strategies for its inhibition
  JOURNAL   Nucleic Acids Res 49 (16), 9310-9326 (2021)
   PUBMED   34387696
  REMARK    GeneRIF: Structural and mechanistic insights into the Artemis
            endonuclease and strategies for its inhibition.
REFERENCE   2  (residues 1 to 1040)
  AUTHORS   Baddock HT, Yosaatmadja Y, Newman JA, Schofield CJ, Gileadi O and
            McHugh PJ.
  TITLE     The SNM1A DNA repair nuclease
  JOURNAL   DNA Repair (Amst) 95, 102941 (2020)
   PUBMED   32866775
  REMARK    GeneRIF: The SNM1A DNA repair nuclease.
            Review article
REFERENCE   3  (residues 1 to 1040)
  AUTHORS   Diene SM, Pinault L, Keshri V, Armstrong N, Khelaifia S, Chabriere
            E, Caetano-Anolles G, Colson P, La Scola B, Rolain JM, Pontarotti P
            and Raoult D.
  TITLE     Human metallo-beta-lactamase enzymes degrade penicillin
  JOURNAL   Sci Rep 9 (1), 12173 (2019)
   PUBMED   31434986
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1040)
  AUTHORS   Buzon B, Grainger R, Huang S, Rzadki C and Junop MS.
  TITLE     Structure-specific endonuclease activity of SNM1A enables
            processing of a DNA interstrand crosslink
  JOURNAL   Nucleic Acids Res 46 (17), 9057-9066 (2018)
   PUBMED   30165656
  REMARK    GeneRIF: Structure-specific endonuclease activity of SNM1A enables
            processing of a DNA interstrand crosslink.
REFERENCE   5  (residues 1 to 1040)
  AUTHORS   Ishiai M, Kimura M, Namikoshi K, Yamazoe M, Yamamoto K, Arakawa H,
            Agematsu K, Matsushita N, Takeda S, Buerstedde JM and Takata M.
  TITLE     DNA cross-link repair protein SNM1A interacts with PIAS1 in nuclear
            focus formation
  JOURNAL   Mol Cell Biol 24 (24), 10733-10741 (2004)
   PUBMED   15572677
REFERENCE   6  (residues 1 to 1040)
  AUTHORS   Akhter S, Richie CT, Deng JM, Brey E, Zhang X, Patrick C Jr,
            Behringer RR and Legerski RJ.
  TITLE     Deficiency in SNM1 abolishes an early mitotic checkpoint induced by
            spindle stress
  JOURNAL   Mol Cell Biol 24 (23), 10448-10455 (2004)
   PUBMED   15542852
  REMARK    GeneRIF: Snm1 and 53BP1 are components of a mitotic stress
            checkpoint that negatively targets the APC prior to chromosome
            condensation
REFERENCE   7  (residues 1 to 1040)
  AUTHORS   Richie CT, Peterson C, Lu T, Hittelman WN, Carpenter PB and
            Legerski RJ.
  TITLE     hSnm1 colocalizes and physically associates with 53BP1 before and
            after DNA damage
  JOURNAL   Mol Cell Biol 22 (24), 8635-8647 (2002)
   PUBMED   12446782
  REMARK    GeneRIF: Results suggest that 53BP1 and Snm1 may cooperate in the
            cellular response to genotoxic damage.
REFERENCE   8  (residues 1 to 1040)
  AUTHORS   Zhang X, Richie C and Legerski RJ.
  TITLE     Translation of hSNM1 is mediated by an internal ribosome entry site
            that upregulates expression during mitosis
  JOURNAL   DNA Repair (Amst) 1 (5), 379-390 (2002)
   PUBMED   12509242
REFERENCE   9  (residues 1 to 1040)
  AUTHORS   Dronkert ML, de Wit J, Boeve M, Vasconcelos ML, van Steeg H, Tan
            TL, Hoeijmakers JH and Kanaar R.
  TITLE     Disruption of mouse SNM1 causes increased sensitivity to the DNA
            interstrand cross-linking agent mitomycin C
  JOURNAL   Mol Cell Biol 20 (13), 4553-4561 (2000)
   PUBMED   10848582
REFERENCE   10 (residues 1 to 1040)
  AUTHORS   Demuth I and Digweed M.
  TITLE     Genomic organization of a potential human DNA-crosslink repair
            gene, KIAA0086
  JOURNAL   Mutat Res 409 (1), 11-16 (1998)
   PUBMED   9806498
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB224073.1 and D42045.1.
            
            Summary: This gene encodes a conserved protein that is involved in
            the repair of DNA interstrand cross-links. DNA cross-links suppress
            transcription, replication, and DNA segregation. The encoded
            protein is a regulator of the mitotic cell cycle checkpoint.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Nov 2012].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript. Both variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.26689.1,
                                           SRR1660803.247075.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1040
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.3"
     Protein         1..1040
                     /product="DNA cross-link repair 1A protein"
                     /EC_number="3.5.2.6"
                     /note="DNA-crosslink repair gene SNM1; SNM1 homolog A;
                     beta-lactamase DCLRE1A"
                     /calculated_mol_wt=116269
     Region          1..190
                     /region_name="Nuclear localization region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJP8.3)"
     Region          15..76
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJP8.3)"
     Region          396..614
                     /region_name="Nuclear focus formation"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJP8.3)"
     Region          582..602
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJP8.3)"
     Site            590
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JIC3; propagated from
                     UniProtKB/Swiss-Prot (Q6PJP8.3)"
     Region          623..651
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PJP8.3)"
     Region          689..844
                     /region_name="SNM1A-like_MBL-fold"
                     /note="5'-exonucleases human SNM1A and related proteins;
                     MBL-fold metallo-hydrolase domain; cd16298"
                     /db_xref="CDD:293856"
     Site            order(732,734,736..737,793..794,815,839)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:293856"
     Region          914..1019
                     /region_name="DRMBL"
                     /note="DNA repair metallo-beta-lactamase; pfam07522"
                     /db_xref="CDD:429512"
     CDS             1..1040
                     /gene="DCLRE1A"
                     /gene_synonym="PSO2; SNM1; SNM1A"
                     /coded_by="NM_001271816.2:707..3829"
                     /db_xref="CCDS:CCDS7584.1"
                     /db_xref="GeneID:9937"
                     /db_xref="HGNC:HGNC:17660"
                     /db_xref="MIM:609682"
ORIGIN      
        1 mlediseedi weykskrkpk rvdpnngskn ilksvekatd gkyqskrsrn rkraaeakev
       61 kdhevplgna gcqtsvassq nsscgdgiqq tqdkettpgk lcrtqksqhv spkirpvydg
      121 ycpncqmpfs sligqtprwh vfecldsppr setecpdgll ctstipfhyk rythfllaqs
      181 ragdhpfssp spasggsfse tksgvlcsle erwssyqnqt dnsvsndpll mtqyfkksps
      241 lteasekist hiqtsqqalq ftdfvendkl vgvalrlann sehinlplpe ndfsdceisy
      301 splqsdedth didekpddsq eqlfftessk dgsleeddds cgffkkrhgp llkdqdescp
      361 kvnsfltrdk ydeglyrfns lndlsqpisq nnestlpydl actggdfvlf ppalagklaa
      421 svhqatkakp depefhsaqs nkqkqviees svynqvslpl vkslmlkpfe sqvegylssq
      481 ptqntirkls senlnaknnt nsacfcrkal egvpvgkati lntenlsstp apkylkilps
      541 glkynarhps tkvmkqmdig vyfglppkrk eekllgesal eginlnpvps pnqkrssqck
      601 rkaekslsdl efdastlhes qlsvelsser sqrqkkrcrk snslqegacq krsdhlinte
      661 seavnlskvk vftksahggl qrgnkkipes snvggsrkkt cpfykkipgt gftvdafqyg
      721 vvegctayfl thfhsdhyag lskhftfpvy cseitgnllk nklhvqeqyi hplpldteci
      781 vngvkvvlld anhcpgavmi lfylpngtvi lhtgdfradp smerslladq kvhmlyldtt
      841 ycspeytfps qqevirfain tafeavtlnp halvvcgtys igkekvflai advlgskvgm
      901 sqekyktlqc lnipeinsli ttdmcsslvh llpmmqinfk glqshlkkcg gkynqilafr
      961 ptgwthsnkf triadvipqt kgnisiygip ysehssylem krfvqwlkpq kiiptvnvgt
     1021 wksrstmeky frewkleagy
//
LOCUS       NP_001287823             155 aa            linear   PRI 26-DEC-2022
DEFINITION  UPF0461 protein C5orf24 isoform 2 [Homo sapiens].
ACCESSION   NP_001287823 XP_005271947
VERSION     NP_001287823.1
DBSOURCE    REFSEQ: accession NM_001300894.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 155)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA433671.1, AJ437658.2, BC053677.1, AV707506.1 and AF085880.1.
            On Jul 16, 2014 this sequence version replaced XP_005271947.1.
            
            Transcript Variant: This variant (3) lacks an internal segment,
            which results in an alternate translation stop codon, compared to
            variant 1. The resulting isoform (2) is shorter and has a distinct
            C-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.184735.1,
                                           SRR3476690.588713.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..155
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     Protein         1..155
                     /product="UPF0461 protein C5orf24 isoform 2"
                     /note="UPF0461 protein C5orf24"
                     /calculated_mol_wt=16594
     Region          1..>143
                     /region_name="DUF5568"
                     /note="Family of unknown function (DUF5568); pfam17724"
                     /db_xref="CDD:435992"
     Region          1..20
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6I8.1)"
     Site            37
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (Q7Z6I8.1)"
     Region          79..142
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6I8.1)"
     Site            121
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7Z6I8.1)"
     CDS             1..155
                     /gene="C5orf24"
                     /coded_by="NM_001300894.2:249..716"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS75307.1"
                     /db_xref="GeneID:134553"
                     /db_xref="HGNC:HGNC:26746"
ORIGIN      
        1 mmhpvassnp afcgpgkpsc lnedamraad qfdiyssqqs kyshtvnhkp mvcqrqdpln
       61 ethlqttsgr sieikdelkk kknlnrsgkr grpsgttksa gyrtstgrpl gttkaagfkt
      121 spgrplgttk aagykvspgr ppgkkqqafr cssda
//
LOCUS       NP_001171810             272 aa            linear   PRI 26-DEC-2022
DEFINITION  SLAM family member 5 isoform 3 precursor [Homo sapiens].
ACCESSION   NP_001171810
VERSION     NP_001171810.1
DBSOURCE    REFSEQ: accession NM_001184881.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 272)
  AUTHORS   Lewinsky H, Gunes EG, David K, Radomir L, Kramer MP, Pellegrino B,
            Perpinial M, Chen J, He TF, Mansour AG, Teng KY, Bhattacharya S,
            Caserta E, Troadec E, Lee P, Feng M, Keats J, Krishnan A,
            Rosenzweig M, Yu J, Caligiuri MA, Cohen Y, Shevetz O, Becker-Herman
            S, Pichiorri F, Rosen S and Shachar I.
  TITLE     CD84 is a regulator of the immunosuppressive microenvironment in
            multiple myeloma
  JOURNAL   JCI Insight 6 (4), 141683 (2021)
   PUBMED   33465053
  REMARK    GeneRIF: CD84 is a regulator of the immunosuppressive
            microenvironment in multiple myeloma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 272)
  AUTHORS   Barak AF, Lewinsky H, Perpinial M, Huber V, Radomir L, Kramer MP,
            Sever L, Wolf Y, Shapiro M, Herishanu Y, Jung S, Becker-Herman S
            and Shachar I.
  TITLE     Bone marrow dendritic cells support the survival of chronic
            lymphocytic leukemia cells in a CD84 dependent manner
  JOURNAL   Oncogene 39 (9), 1997-2008 (2020)
   PUBMED   31772329
  REMARK    GeneRIF: Bone marrow dendritic cells support the survival of
            chronic lymphocytic leukemia cells in a CD84 dependent manner.
REFERENCE   3  (residues 1 to 272)
  AUTHORS   Vroegindewey MM, Oemrawsingh RM, Kardys I, Asselbergs FW, van der
            Harst P, Oude Ophuis AJ, Etienne Cramer G, Maas A, Hong Kie The S,
            Wardeh AJ, Mouthaan H, Boersma E and Akkerhuis KM.
  TITLE     The temporal pattern of immune and inflammatory proteins prior to a
            recurrent coronary event in post-acute coronary syndrome patients
  JOURNAL   Biomarkers 24 (2), 199-205 (2019)
   PUBMED   30514120
  REMARK    GeneRIF: Among 29 immune and inflammatory proteins, CXCL1, CD84 and
            TNFRSF10A were associated with early post-acute coronary syndrome
            (ACS) after initial ACS-admission
REFERENCE   4  (residues 1 to 272)
  AUTHORS   Agod Z, Pazmandi K, Bencze D, Vereb G, Biro T, Szabo A, Rajnavolgyi
            E, Bacsi A, Engel P and Lanyi A.
  TITLE     Signaling Lymphocyte Activation Molecule Family 5 Enhances
            Autophagy and Fine-Tunes Cytokine Response in Monocyte-Derived
            Dendritic Cells via Stabilization of Interferon Regulatory Factor 8
  JOURNAL   Front Immunol 9, 62 (2018)
   PUBMED   29434592
  REMARK    GeneRIF: our experiments identified SLAMF5 as a novel cell surface
            receptor modulator of autophagy and revealed an unexpected link
            between the SLAMF and IRF8 signaling pathways, both implicated in
            multiple human pathologies.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 272)
  AUTHORS   Marom A, Barak AF, Kramer MP, Lewinsky H, Binsky-Ehrenreich I,
            Cohen S, Tsitsou-Kampeli A, Kalchenko V, Kuznetsov Y, Mirkin V,
            Dezorella N, Shapiro M, Schwartzberg PL, Cohen Y, Shvidel L, Haran
            M, Becker-Herman S, Herishanu Y and Shachar I.
  TITLE     CD84 mediates CLL-microenvironment interactions
  JOURNAL   Oncogene 36 (5), 628-638 (2017)
   PUBMED   27452524
  REMARK    GeneRIF: Results show that CD84 expressed on CLL cells interact
            with CD84 expressed on cells in their microenvironment, inducing
            cell survival in both sides.
REFERENCE   6  (residues 1 to 272)
  AUTHORS   Krause SW, Rehli M, Heinz S, Ebner R and Andreesen R.
  TITLE     Characterization of MAX.3 antigen, a glycoprotein expressed on
            mature macrophages, dendritic cells and blood platelets: identity
            with CD84
  JOURNAL   Biochem J 346 Pt 3 (Pt 3), 729-736 (2000)
   PUBMED   10698700
REFERENCE   7  (residues 1 to 272)
  AUTHORS   Palou E, Pirotto F, Sole J, Freed JH, Peral B, Vilardell C, Vilella
            R, Vives J and Gaya A.
  TITLE     Genomic characterization of CD84 reveals the existence of five
            isoforms differing in their cytoplasmic domains
  JOURNAL   Tissue Antigens 55 (2), 118-127 (2000)
   PUBMED   10746783
REFERENCE   8  (residues 1 to 272)
  AUTHORS   de la Fuente MA, Pizcueta P, Nadal M, Bosch J and Engel P.
  TITLE     CD84 leukocyte antigen is a new member of the Ig superfamily
  JOURNAL   Blood 90 (6), 2398-2405 (1997)
   PUBMED   9310491
REFERENCE   9  (residues 1 to 272)
  AUTHORS   Kingsmore SF, Souryal CA, Watson ML, Patel DD and Seldin MF.
  TITLE     Physical and genetic linkage of the genes encoding Ly-9 and CD48 on
            mouse and human chromosomes 1
  JOURNAL   Immunogenetics 42 (1), 59-62 (1995)
   PUBMED   7797269
REFERENCE   10 (residues 1 to 272)
  AUTHORS   Andreesen,R., Bross,K.J., Osterholz,J. and Emmrich,F.
  TITLE     Human macrophage maturation and heterogeneity: analysis with a
            newly generated set of monoclonal antibodies to differentiation
            antigens
  JOURNAL   Blood 67 (5), 1257-1264 (1986)
   PUBMED   3008886
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL138930.15, AF054817.1 and CA448708.1.
            
            Summary: This gene encodes a membrane glycoprotein that is a member
            of the signaling lymphocyte activation molecule (SLAM) family. This
            family forms a subset of the larger CD2 cell-surface receptor Ig
            superfamily. The encoded protein is a homophilic adhesion molecule
            that is expressed in numerous immune cells types and is involved in
            regulating receptor-mediated signaling in those cells. Alternate
            splicing results in multiple transcript variants. [provided by
            RefSeq, Oct 2011].
            
            Transcript Variant: This variant (3) lacks two alternate segments,
            one of which shifts the reading frame, compared to variant 1. The
            resulting protein (isoform 3) has a shorter and distinct C-terminus
            when it is compared to isoform 1. This variant has also been called
            CD84d.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.75149.1,
                                           SRR14038194.1102796.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..272
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     Protein         1..272
                     /product="SLAM family member 5 isoform 3 precursor"
                     /note="CD84 antigen (leukocyte antigen); leukocyte antigen
                     CD84; SLAM family member 5; leukocyte differentiation
                     antigen CD84; leucocyte differentiation antigen CD84;
                     hly9-beta; cell surface antigen MAX.3; signaling
                     lymphocytic activation molecule 5"
                     /calculated_mol_wt=28100
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2432
     Region          27..129
                     /region_name="Ig_SLAM-like_N"
                     /note="N-terminal immunoglobulin (Ig)-like domain of the
                     signaling lymphocyte activation molecule (SLAM) family;
                     cd16842"
                     /db_xref="CDD:409517"
     Region          27..32
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409517"
     Region          35..41
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409517"
     Site            order(51,53,108,110,112)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:409517"
     Region          59..64
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409517"
     Region          72..77
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409517"
     Region          84..89
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409517"
     Region          92..97
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409517"
     Region          105..112
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409517"
     Region          119..129
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409517"
     Region          150..207
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            150
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UIB8.1)"
     Site            226..246
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UIB8.1)"
     CDS             1..272
                     /gene="CD84"
                     /gene_synonym="hCD84; LY9B; mCD84; SLAMF5"
                     /coded_by="NM_001184881.2:60..878"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS53397.1"
                     /db_xref="GeneID:8832"
                     /db_xref="HGNC:HGNC:1704"
                     /db_xref="MIM:604513"
ORIGIN      
        1 maqhhlwill lclqtwpeaa gkdseiftvn gilgesvtfp vniqeprqvk iiawtsktsv
       61 ayvtpgdset apvvtvthrn yyerihalgp nynlvisdlr medagdykad intqadpytt
      121 tkrynlqiyr rlgkpkitqs lmasvnstcn vtltcsveke eknvtynwsp lgeegnvlqi
      181 fqtpedqelt ytctaqnpvs nnsdsisarq lcadiamgfr thhtgllsvl amffllvlil
      241 ssvflfrlfk rrqgaslqgr asehslfrsa vc
//
LOCUS       NP_001311212             490 aa            linear   PRI 27-DEC-2022
DEFINITION  signal transducing adapter molecule 1 isoform c [Homo sapiens].
ACCESSION   NP_001311212
VERSION     NP_001311212.1
DBSOURCE    REFSEQ: accession NM_001324283.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 490)
  AUTHORS   Zhuo Y, Gurevich VV, Vishnivetskiy SA, Klug CS and Marchese A.
  TITLE     A non-GPCR-binding partner interacts with a novel surface on
            beta-arrestin1 to mediate GPCR signaling
  JOURNAL   J Biol Chem 295 (41), 14111-14124 (2020)
   PUBMED   32753481
  REMARK    GeneRIF: A non-GPCR-binding partner interacts with a novel surface
            on beta-arrestin1 to mediate GPCR signaling.
REFERENCE   2  (residues 1 to 490)
  AUTHORS   Wang Y, Zhao W, Xiao Z, Guan G, Liu X and Zhuang M.
  TITLE     A risk signature with four autophagy-related genes for predicting
            survival of glioblastoma multiforme
  JOURNAL   J Cell Mol Med 24 (7), 3807-3821 (2020)
   PUBMED   32065482
  REMARK    GeneRIF: A risk signature with four autophagy-related genes for
            predicting survival of glioblastoma multiforme.
REFERENCE   3  (residues 1 to 490)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 490)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (residues 1 to 490)
  AUTHORS   Alekhina O and Marchese A.
  TITLE     beta-Arrestin1 and Signal-transducing Adaptor Molecule 1 (STAM1)
            Cooperate to Promote Focal Adhesion Kinase Autophosphorylation and
            Chemotaxis via the Chemokine Receptor CXCR4
  JOURNAL   J Biol Chem 291 (50), 26083-26097 (2016)
   PUBMED   27789711
  REMARK    GeneRIF: The beta-arrestin1.STAM1 complex is necessary for
            promoting autophosphorylation of focal adhesion kinase (FAK). FAK
            is necessary for CXCL12-induced chemotaxis and associates with and
            localizes with beta-arrestin1 and STAM1 in a CXCL12-dependent
            manner.
REFERENCE   6  (residues 1 to 490)
  AUTHORS   Endo K, Takeshita T, Kasai H, Sasaki Y, Tanaka N, Asao H, Kikuchi
            K, Yamada M, Chenb M, O'Shea JJ and Sugamura K.
  TITLE     STAM2, a new member of the STAM family, binding to the Janus
            kinases
  JOURNAL   FEBS Lett 477 (1-2), 55-61 (2000)
   PUBMED   10899310
REFERENCE   7  (residues 1 to 490)
  AUTHORS   Tanaka N, Kaneko K, Asao H, Kasai H, Endo Y, Fujita T, Takeshita T
            and Sugamura K.
  TITLE     Possible involvement of a novel STAM-associated molecule 'AMSH' in
            intracellular signal transduction mediated by cytokines
  JOURNAL   J Biol Chem 274 (27), 19129-19135 (1999)
   PUBMED   10383417
REFERENCE   8  (residues 1 to 490)
  AUTHORS   Asao H, Sasaki Y, Arita T, Tanaka N, Endo K, Kasai H, Takeshita T,
            Endo Y, Fujita T and Sugamura K.
  TITLE     Hrs is associated with STAM, a signal-transducing adaptor molecule.
            Its suppressive effect on cytokine-induced cell growth
  JOURNAL   J Biol Chem 272 (52), 32785-32791 (1997)
   PUBMED   9407053
REFERENCE   9  (residues 1 to 490)
  AUTHORS   Takeshita T, Arita T, Higuchi M, Asao H, Endo K, Kuroda H, Tanaka
            N, Murata K, Ishii N and Sugamura K.
  TITLE     STAM, signal transducing adaptor molecule, is associated with Janus
            kinases and involved in signaling for cell growth and c-myc
            induction
  JOURNAL   Immunity 6 (4), 449-457 (1997)
   PUBMED   9133424
REFERENCE   10 (residues 1 to 490)
  AUTHORS   Takeshita T, Arita T, Asao H, Tanaka N, Higuchi M, Kuroda H, Kaneko
            K, Munakata H, Endo Y, Fujita T and Sugamura K.
  TITLE     Cloning of a novel signal-transducing adaptor molecule containing
            an SH3 domain and ITAM
  JOURNAL   Biochem Biophys Res Commun 225 (3), 1035-1039 (1996)
   PUBMED   8780729
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC069542.7.
            
            Summary: This gene encodes a member of the signal-transducing
            adaptor molecule family. These proteins mediate downstream
            signaling of cytokine receptors and also play a role in ER to Golgi
            trafficking by interacting with the coat protein II complex. The
            encoded protein also associates with hepatocyte growth
            factor-regulated substrate to form the endosomal sorting complex
            required for transport-0 (ESCRT-0), which sorts ubiquitinated
            membrane proteins to the ESCRT-1 complex for lysosomal degradation.
            Alternatively spliced transcript variants have been observed for
            this gene. [provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (3), as well as variants 4 and 5,
            encodes isoform c.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.23877.1,
                                           SRR1803611.12732.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..490
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.33"
     Protein         1..490
                     /product="signal transducing adapter molecule 1 isoform c"
                     /note="HSE1 homolog; signal transducing adapter molecule
                     1; signal transducing adaptor molecule (SH3 domain and
                     ITAM motif) 1"
                     /calculated_mol_wt=53508
     Region          <1..96
                     /region_name="VHS_ENTH_ANTH"
                     /note="VHS, ENTH and ANTH domain superfamily; cl02544"
                     /db_xref="CDD:445822"
     Region          163..217
                     /region_name="SH3_STAM1"
                     /note="Src homology 3 domain of Signal Transducing Adaptor
                     Molecule 1; cd11964"
                     /db_xref="CDD:212897"
     Site            order(169,171,174..175,177..178,196..197,210,212..213)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212897"
     Region          251..327
                     /region_name="GAT_STAM1"
                     /note="non-canonical GAT domain found in signal
                     transducing adapter molecule 1 (STAM-1) and similar
                     proteins; cd21389"
                     /db_xref="CDD:410594"
     Site            order(252,254,257..258,260..261,264,267,269..270,272..273,
                     275,279,283,286..287,290..291,293..298,300..302,304..305,
                     307..314,316..318,320..321,324..325,327)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:410594"
     CDS             1..490
                     /gene="STAM"
                     /gene_synonym="STAM-1; STAM1"
                     /coded_by="NM_001324283.2:255..1727"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="GeneID:8027"
                     /db_xref="HGNC:HGNC:11357"
                     /db_xref="MIM:601899"
ORIGIN      
        1 mrrvnhkdph vamqaltllg acvsncgkif hlevcsrdfa sevsnvlnkg hpkvceklka
       61 lmvewtdefk ndpqlslisa miknlkeqgv tfpaigsqaa eqakaspalv akdpgtvank
      121 keeedlakai elslkeqrqq sttlstlyps tsslltnhqh egrkvraiyd feaaednelt
      181 fkageiitvl ddsdpnwwkg ethqgiglfp snfvtadlta epemiktekk tvqfsddvqv
      241 etiepepepa fidedkmdql lqmlqstdps ddqpdlpell hleamchqmg plidekledi
      301 drkhselsel nvkvmealsl ytklmnedpm ysmyaklqnq pyymqssgvs gsqvyagppp
      361 sgaylvagna qmshlqsysl ppeqlsslsq avvppsanpa lpsqqtqaay pntmvssvqg
      421 ntypsqapvy spppaataaa atadvtlyqn agpnmpqvpn ynltsstlpq pggsqqppqp
      481 qqpysqkall
//
LOCUS       NP_001381455             602 aa            linear   PRI 27-DEC-2022
DEFINITION  basic helix-loop-helix ARNT-like protein 2 isoform 8 [Homo
            sapiens].
ACCESSION   NP_001381455
VERSION     NP_001381455.1
DBSOURCE    REFSEQ: accession NM_001394526.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 602)
  AUTHORS   Wang Z, Liu T, Xue W, Fang Y, Chen X, Xu L, Zhang L, Guan K, Pan J,
            Zheng L, Qin G and Wang T.
  TITLE     ARNTL2 promotes pancreatic ductal adenocarcinoma progression
            through TGF/BETA pathway and is regulated by miR-26a-5p
  JOURNAL   Cell Death Dis 11 (8), 692 (2020)
   PUBMED   32826856
  REMARK    GeneRIF: ARNTL2 promotes pancreatic ductal adenocarcinoma
            progression through TGF/BETA pathway and is regulated by
            miR-26a-5p.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 602)
  AUTHORS   Brady JJ, Chuang CH, Greenside PG, Rogers ZN, Murray CW, Caswell
            DR, Hartmann U, Connolly AJ, Sweet-Cordero EA, Kundaje A and
            Winslow MM.
  TITLE     An Arntl2-Driven Secretome Enables Lung Adenocarcinoma Metastatic
            Self-Sufficiency
  JOURNAL   Cancer Cell 29 (5), 697-710 (2016)
   PUBMED   27150038
  REMARK    GeneRIF: Data indicate that high transcription factor ARNTL2 is a
            top predictor of lung adenocarcinoma patient outcome.
REFERENCE   3  (residues 1 to 602)
  AUTHORS   Yamaguchi M, Uemura H, Arisawa K, Katsuura-Kamano S, Hamajima N,
            Hishida A, Suma S, Oze I, Nakamura K, Takashima N, Suzuki S,
            Ibusuki R, Mikami H, Ohnaka K, Kuriyama N, Kubo M and Tanaka H.
  CONSRTM   Japan Multi-institutional Collaborative Cohort (J-MICC) Study Group
  TITLE     Association between brain-muscle-ARNT-like protein-2 (BMAL2) gene
            polymorphism and type 2 diabetes mellitus in obese Japanese
            individuals: A cross-sectional analysis of the Japan
            Multi-institutional Collaborative Cohort Study
  JOURNAL   Diabetes Res Clin Pract 110 (3), 301-308 (2015)
   PUBMED   26497775
  REMARK    GeneRIF: BMAL2 rs7958822 genotype is associated with type 2
            diabetes in obese men and women; an interaction between BMAL2
            rs7958822 genotype and obesity was observed in men
REFERENCE   4  (residues 1 to 602)
  AUTHORS   Qing-Xiu L, Chang-Quan H, Qian C, Xue-Mei Z, Xiu-Ying H and
            Song-Bing L.
  TITLE     The polymorphism of ARNTL2 (BMAL2) gene rs2306074 C>T is associated
            with susceptibility of Alzheimer disease in Chinese population
  JOURNAL   Neurol Sci 35 (11), 1743-1747 (2014)
   PUBMED   24847962
  REMARK    GeneRIF: The prevalence of C carriers in BMAL2 gene rs2306074 T/C
            in Alzheimer disease patients was significantly higher than that of
            control subjects
REFERENCE   5  (residues 1 to 602)
  AUTHORS   Parsons MJ, Lester KJ, Barclay NL, Archer SN, Nolan PM, Eley TC and
            Gregory AM.
  TITLE     Polymorphisms in the circadian expressed genes PER3 and ARNTL2 are
            associated with diurnal preference and GNbeta3 with sleep measures
  JOURNAL   J Sleep Res 23 (5), 595-604 (2014)
   PUBMED   24635757
  REMARK    GeneRIF: there is significant association between diurnal
            preference and a polymorphism in PER3 and a novel nominally
            significant association between diurnal preference and a
            polymorphism in ARNTL2
REFERENCE   6  (residues 1 to 602)
  AUTHORS   Schoenhard JA, Eren M, Johnson CH and Vaughan DE.
  TITLE     Alternative splicing yields novel BMAL2 variants: tissue
            distribution and functional characterization
  JOURNAL   Am J Physiol Cell Physiol 283 (1), C103-C114 (2002)
   PUBMED   12055078
  REMARK    GeneRIF: Alternative splicing yields novel BMAL2 variants: tissue
            distribution and functional characterization.
REFERENCE   7  (residues 1 to 602)
  AUTHORS   Okano T, Yamamoto K, Okano K, Hirota T, Kasahara T, Sasaki M,
            Takanaka Y and Fukada Y.
  TITLE     Chicken pineal clock genes: implication of BMAL2 as a bidirectional
            regulator in circadian clock oscillation
  JOURNAL   Genes Cells 6 (9), 825-836 (2001)
   PUBMED   11554928
REFERENCE   8  (residues 1 to 602)
  AUTHORS   Maemura K, de la Monte SM, Chin MT, Layne MD, Hsieh CM, Yet SF,
            Perrella MA and Lee ME.
  TITLE     CLIF, a novel cycle-like factor, regulates the circadian
            oscillation of plasminogen activator inhibitor-1 gene expression
  JOURNAL   J Biol Chem 275 (47), 36847-36851 (2000)
   PUBMED   11018023
REFERENCE   9  (residues 1 to 602)
  AUTHORS   Ikeda M, Yu W, Hirai M, Ebisawa T, Honma S, Yoshimura K, Honma KI
            and Nomura M.
  TITLE     cDNA cloning of a novel bHLH-PAS transcription factor superfamily
            gene, BMAL2: its mRNA expression, subcellular distribution, and
            chromosomal localization
  JOURNAL   Biochem Biophys Res Commun 275 (2), 493-502 (2000)
   PUBMED   10964693
REFERENCE   10 (residues 1 to 602)
  AUTHORS   Hogenesch JB, Gu YZ, Moran SM, Shimomura K, Radcliffe LA, Takahashi
            JS and Bradfield CA.
  TITLE     The basic helix-loop-helix-PAS protein MOP9 is a brain-specific
            heterodimeric partner of circadian and hypoxia factors
  JOURNAL   J Neurosci 20 (13), RC83 (2000)
   PUBMED   10864977
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092829.4 and AC068794.25.
            
            Summary: This gene encodes a basic helix-loop-helix transcription
            factor belonging to the PAS (PER, ARNT, SIM) superfamily. The PAS
            proteins play important roles in adaptation to low atmospheric and
            cellular oxygen levels, exposure to certain environmental
            pollutants, and diurnal oscillations in light and temperature. This
            protein forms a transcriptionally active heterodimer with the
            circadian CLOCK protein, the structurally related MOP4, and
            hypoxia-inducible factors, such as HIF1alpha. Consistent with its
            role as a biologically relevant partner of circadian and hypoxia
            factors, this protein is coexpressed in regions of the brain such
            as the thalamus, hypothalamus, and amygdala. Alternatively spliced
            transcript variants encoding different isoforms have been described
            for this gene. [provided by RefSeq, Oct 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.3927329.1,
                                           SRR14038194.1471208.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2147975
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..602
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.23"
     Protein         1..602
                     /product="basic helix-loop-helix ARNT-like protein 2
                     isoform 8"
                     /note="transcription factor BMAL2; CYCLE-like factor;
                     member of PAS protein 9; brain and muscle ARNT-like 2; PAS
                     domain-containing protein 9; basic-helix-loop-helix-PAS
                     protein MOP9; class E basic helix-loop-helix protein 6;
                     member of PAS superfamily 9; aryl hydrocarbon receptor
                     nuclear translocator like 2; basic helix-loop-helix
                     ARNT-like protein 2"
                     /calculated_mol_wt=67078
     Region          74..133
                     /region_name="bHLH-PAS_ARNTL2_PASD9"
                     /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS)
                     domain found in aryl hydrocarbon receptor nuclear
                     translocator-like protein 2 (ARNTL2) and similar proteins;
                     cd11469"
                     /db_xref="CDD:381475"
     Site            order(74..75,78..79,82,85..86,90,111..112)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381475"
     Site            order(89,92,95..96,113,116..117,120,122..124,126)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381475"
     Region          158..253
                     /region_name="PAS"
                     /note="PAS domain; PAS motifs appear in archaea,
                     eubacteria and eukarya. Probably the most surprising
                     identification of a PAS domain was that in EAG-like
                     K+-channels. PAS domains have been found to bind ligands,
                     and to act as sensors for light and oxygen in...; cd00130"
                     /db_xref="CDD:238075"
     Site            order(173,177,183,196..199,221,226)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238075"
     Site            order(193,197,205,208..209,233,235)
                     /site_type="other"
                     /note="heme pocket [chemical binding]"
                     /db_xref="CDD:238075"
     Region          336..438
                     /region_name="PAS_11"
                     /note="PAS domain; pfam14598"
                     /db_xref="CDD:434060"
     CDS             1..602
                     /gene="BMAL2"
                     /gene_synonym="ARNTL2; bHLHe6; CLIF; MOP9; PASD9"
                     /coded_by="NM_001394526.1:238..2046"
                     /note="isoform 8 is encoded by transcript variant 8"
                     /db_xref="CCDS:CCDS91666.1"
                     /db_xref="GeneID:56938"
                     /db_xref="HGNC:HGNC:18984"
                     /db_xref="MIM:614517"
ORIGIN      
        1 maaeeeaaag gkvlreenqc iapvvssrvs pgtrptamgs fsshmtefpr krkgsdsdps
       61 qvedgehqvk mkafreahsq tekrrrdkmn nlieelsami pqcnpmarkl dkltvlrmav
      121 qhlrslkglt nsyvgsnyrp sflqdnelrh lilktaegfl fvvgcergki lfvsksvski
      181 lnydqasltg qslfdflhpk dvakvkeqls sfdisprekl idaktglqvh snlhagrtrv
      241 ysgsrrsffc riksckisvk eehgclpnsk kkehrkfyti hctgylrswp pnivgmeeer
      301 nskkdnsnft clvaigrlqp yivpqnsgei nvkptefitr favngkfvyv dqratailgy
      361 lpqellgtsc yeyfhqddhn nltdkhkavl qskekiltds ykfrakdgsf vtlksqwfsf
      421 tnpwtkeley ivsvntlvlg hsepgeasfl pcssqssees srqscmsvpg mstgtvlgag
      481 sigtdianei ldlqrlqsss ylddssptgl mkdthtvncr smsnkelfpp spsemgelea
      541 trqnqstvav hshepllsdg aqldfdalcd nddtamaafm nyleaegglg dpgdfsdiqw
      601 tl
//
LOCUS       NP_001186726             434 aa            linear   PRI 27-DEC-2022
DEFINITION  tyrosine-protein phosphatase non-receptor type 7 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001186726
VERSION     NP_001186726.1
DBSOURCE    REFSEQ: accession NM_001199797.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 434)
  AUTHORS   Zouboulis CC, Nogueira da Costa A, Fimmel S and Zouboulis KC.
  TITLE     Apocrine glands are bystanders in hidradenitis suppurativa and
            their involvement is gender specific
  JOURNAL   J Eur Acad Dermatol Venereol 34 (7), 1555-1563 (2020)
   PUBMED   32031713
REFERENCE   2  (residues 1 to 434)
  AUTHORS   Inamdar VV, Reddy H, Dangelmaier C, Kostyak JC and Kunapuli SP.
  TITLE     The protein tyrosine phosphatase PTPN7 is a negative regulator of
            ERK activation and thromboxane generation in platelets
  JOURNAL   J Biol Chem 294 (33), 12547-12554 (2019)
   PUBMED   31266805
  REMARK    GeneRIF: PTPN7 regulates platelet functional responses downstream
            of GPCR agonists, but not GPVI agonists, through inhibition of ERK
            activation and thromboxane generation.
REFERENCE   3  (residues 1 to 434)
  AUTHORS   Chen TC, Lin KT, Chen CH, Lee SA, Lee PY, Liu YW, Kuo YL, Wang FS,
            Lai JM and Huang CY.
  TITLE     Using an in situ proximity ligation assay to systematically profile
            endogenous protein-protein interactions in a pathway network
  JOURNAL   J Proteome Res 13 (12), 5339-5346 (2014)
   PUBMED   25241761
REFERENCE   4  (residues 1 to 434)
  AUTHORS   Garcia-Closas M, Couch FJ, Lindstrom S, Michailidou K, Schmidt MK,
            Brook MN, Orr N, Rhie SK, Riboli E, Feigelson HS, Le Marchand L,
            Buring JE, Eccles D, Miron P, Fasching PA, Brauch H, Chang-Claude
            J, Carpenter J, Godwin AK, Nevanlinna H, Giles GG, Cox A, Hopper
            JL, Bolla MK, Wang Q, Dennis J, Dicks E, Howat WJ, Schoof N,
            Bojesen SE, Lambrechts D, Broeks A, Andrulis IL, Guenel P,
            Burwinkel B, Sawyer EJ, Hollestelle A, Fletcher O, Winqvist R,
            Brenner H, Mannermaa A, Hamann U, Meindl A, Lindblom A, Zheng W,
            Devillee P, Goldberg MS, Lubinski J, Kristensen V, Swerdlow A,
            Anton-Culver H, Dork T, Muir K, Matsuo K, Wu AH, Radice P, Teo SH,
            Shu XO, Blot W, Kang D, Hartman M, Sangrajrang S, Shen CY, Southey
            MC, Park DJ, Hammet F, Stone J, Veer LJ, Rutgers EJ, Lophatananon
            A, Stewart-Brown S, Siriwanarangsan P, Peto J, Schrauder MG, Ekici
            AB, Beckmann MW, Dos Santos Silva I, Johnson N, Warren H, Tomlinson
            I, Kerin MJ, Miller N, Marme F, Schneeweiss A, Sohn C, Truong T,
            Laurent-Puig P, Kerbrat P, Nordestgaard BG, Nielsen SF, Flyger H,
            Milne RL, Perez JI, Menendez P, Muller H, Arndt V, Stegmaier C,
            Lichtner P, Lochmann M, Justenhoven C, Ko YD, Muranen TA, Aittomaki
            K, Blomqvist C, Greco D, Heikkinen T, Ito H, Iwata H, Yatabe Y,
            Antonenkova NN, Margolin S, Kataja V, Kosma VM, Hartikainen JM,
            Balleine R, Tseng CC, Berg DV, Stram DO, Neven P, Dieudonne AS,
            Leunen K, Rudolph A, Nickels S, Flesch-Janys D, Peterlongo P,
            Peissel B, Bernard L, Olson JE, Wang X, Stevens K, Severi G,
            Baglietto L, McLean C, Coetzee GA, Feng Y, Henderson BE, Schumacher
            F, Bogdanova NV, Labreche F, Dumont M, Yip CH, Taib NA, Cheng CY,
            Shrubsole M, Long J, Pylkas K, Jukkola-Vuorinen A, Kauppila S,
            Knight JA, Glendon G, Mulligan AM, Tollenaar RA, Seynaeve CM,
            Kriege M, Hooning MJ, van den Ouweland AM, van Deurzen CH, Lu W,
            Gao YT, Cai H, Balasubramanian SP, Cross SS, Reed MW, Signorello L,
            Cai Q, Shah M, Miao H, Chan CW, Chia KS, Jakubowska A, Jaworska K,
            Durda K, Hsiung CN, Wu PE, Yu JC, Ashworth A, Jones M, Tessier DC,
            Gonzalez-Neira A, Pita G, Alonso MR, Vincent D, Bacot F, Ambrosone
            CB, Bandera EV, John EM, Chen GK, Hu JJ, Rodriguez-Gil JL,
            Bernstein L, Press MF, Ziegler RG, Millikan RM, Deming-Halverson
            SL, Nyante S, Ingles SA, Waisfisz Q, Tsimiklis H, Makalic E,
            Schmidt D, Bui M, Gibson L, Muller-Myhsok B, Schmutzler RK, Hein R,
            Dahmen N, Beckmann L, Aaltonen K, Czene K, Irwanto A, Liu J,
            Turnbull C, Rahman N, Meijers-Heijboer H, Uitterlinden AG,
            Rivadeneira F, Olswold C, Slager S, Pilarski R, Ademuyiwa F,
            Konstantopoulou I, Martin NG, Montgomery GW, Slamon DJ, Rauh C, Lux
            MP, Jud SM, Bruning T, Weaver J, Sharma P, Pathak H, Tapper W,
            Gerty S, Durcan L, Trichopoulos D, Tumino R, Peeters PH, Kaaks R,
            Campa D, Canzian F, Weiderpass E, Johansson M, Khaw KT, Travis R,
            Clavel-Chapelon F, Kolonel LN, Chen C, Beck A, Hankinson SE, Berg
            CD, Hoover RN, Lissowska J, Figueroa JD, Chasman DI, Gaudet MM,
            Diver WR, Willett WC, Hunter DJ, Simard J, Benitez J, Dunning AM,
            Sherman ME, Chenevix-Trench G, Chanock SJ, Hall P, Pharoah PD,
            Vachon C, Easton DF, Haiman CA and Kraft P.
  CONSRTM   Gene ENvironmental Interaction and breast CAncer (GENICA) Network;
            kConFab Investigators; Familial Breast Cancer Study (FBCS);
            Australian Breast Cancer Tissue Bank (ABCTB) Investigators
  TITLE     Genome-wide association studies identify four ER negative-specific
            breast cancer risk loci
  JOURNAL   Nat Genet 45 (4), 392-398e3982 (2013)
   PUBMED   23535733
REFERENCE   5  (residues 1 to 434)
  AUTHORS   Kim HN, Lee EJ, Jung SC, Lee JY, Chung HW and Kim HL.
  TITLE     Genetic variants that affect length/height in infancy/early
            childhood in Vietnamese-Korean families
  JOURNAL   J Hum Genet 55 (10), 681-690 (2010)
   PUBMED   20668459
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   6  (residues 1 to 434)
  AUTHORS   Swieter M, Berenstein EH, Swaim WD and Siraganian RP.
  TITLE     Aggregation of IgE receptors in rat basophilic leukemia 2H3 cells
            induces tyrosine phosphorylation of the cytosolic protein-tyrosine
            phosphatase HePTP
  JOURNAL   J Biol Chem 270 (37), 21902-21906 (1995)
   PUBMED   7545170
REFERENCE   7  (residues 1 to 434)
  AUTHORS   Zanke B, Squire J, Griesser H, Henry M, Suzuki H, Patterson B,
            Minden M and Mak TW.
  TITLE     A hematopoietic protein tyrosine phosphatase (HePTP) gene that is
            amplified and overexpressed in myeloid malignancies maps to
            chromosome 1q32.1
  JOURNAL   Leukemia 8 (2), 236-244 (1994)
   PUBMED   8309248
REFERENCE   8  (residues 1 to 434)
  AUTHORS   Adachi M, Sekiya M, Isobe M, Kumura Y, Ogita Z, Hinoda Y, Imai K
            and Yachi A.
  TITLE     Molecular cloning and chromosomal mapping of a human
            protein-tyrosine phosphatase LC-PTP
  JOURNAL   Biochem Biophys Res Commun 186 (3), 1607-1615 (1992)
   PUBMED   1510684
REFERENCE   9  (residues 1 to 434)
  AUTHORS   Adachi M, Sekiya M, Arimura Y, Takekawa M, Itoh F, Hinoda Y, Imai K
            and Yachi A.
  TITLE     Protein-tyrosine phosphatase expression in pre-B cell NALM-6
  JOURNAL   Cancer Res 52 (3), 737-740 (1992)
   PUBMED   1370651
REFERENCE   10 (residues 1 to 434)
  AUTHORS   Zanke B, Suzuki H, Kishihara K, Mizzen L, Minden M, Pawson A and
            Mak TW.
  TITLE     Cloning and expression of an inducible lymphoid-specific, protein
            tyrosine phosphatase (HePTPase)
  JOURNAL   Eur J Immunol 22 (1), 235-239 (1992)
   PUBMED   1530918
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC399028.1, AK302869.1 and
            AL592300.16.
            
            Summary: The protein encoded by this gene is a member of the
            protein tyrosine phosphatase (PTP) family. PTPs are known to be
            signaling molecules that regulate a variety of cellular processes
            including cell growth, differentiation, mitotic cycle, and
            oncogenic transformation. This gene is preferentially expressed in
            a variety of hematopoietic cells, and is an early response gene in
            lymphokine stimulated cells. The non-catalytic N-terminus of this
            PTP can interact with MAP kinases and suppress the MAP kinase
            activities. This PTP was shown to be involved in the regulation of
            T cell antigen receptor (TCR) signaling, which was thought to
            function through dephosphorylating the molecules related to MAP
            kinase pathway. Multiple alternatively spliced transcript variants
            have been found for this gene. [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (3) lacks a segment in the 5'
            region, resulting in an upstream AUG start codon, as compared to
            variant 1. The resulting isoform (3) has a shorter and distinct
            N-terminus, as compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302869.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     Protein         1..434
                     /product="tyrosine-protein phosphatase non-receptor type 7
                     isoform 3"
                     /EC_number="3.1.3.48"
                     /note="hematopoietic protein-tyrosine phosphatase;
                     tyrosine-protein phosphatase non-receptor type 7;
                     protein-tyrosine phosphatase, nonreceptor-type, stress
                     induced; dual specificity phosphatase 1; protein-tyrosine
                     phosphatase LC-PTP"
                     /calculated_mol_wt=48182
     Region          179..424
                     /region_name="PTPc-N7"
                     /note="catalytic domain of tyrosine-protein phosphatase
                     non-receptor type 7; cd14612"
                     /db_xref="CDD:350460"
     CDS             1..434
                     /gene="PTPN7"
                     /gene_synonym="BPTP-4; HEPTP; LC-PTP; LPTP; PTPNI"
                     /coded_by="NM_001199797.2:29..1333"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:5778"
                     /db_xref="HGNC:HGNC:9659"
                     /db_xref="MIM:176889"
ORIGIN      
        1 mnrlgcwpar slprsgrgsg qrslglgghp sgprhpgtpa akrtwespgv rardcplsts
       61 wlsepplgpa phlsmvqahg grsraqpltl slgaamtqpp pektpakkhv rlqerrgsnv
      121 almldvrslg avepicsvnt prevtlhflr taghpltrwa lqrqppspkq leeeflkips
      181 nfvspedldi pghaskdryk tilpnpqsrv clgraqsqed gdyinanyir gydgkekvyi
      241 atqgpmpntv sdfwemvwqe evslivmltq lregkekcvh ywpteeetyg pfqiriqdmk
      301 ecpeytvrql tiqyqeerrs vkhilfsawp dhqtpesagp llrlvaevee spetaahpgp
      361 ivvhcsagig rtgcfiatri gcqqlkarge vdilgivcql rldrggmiqt aeqyqflhht
      421 lalyagqlpe epsp
//
LOCUS       NP_997002                184 aa            linear   PRI 27-DEC-2022
DEFINITION  leucine-rich repeat-containing protein 20 isoform 1 [Homo sapiens].
ACCESSION   NP_997002
VERSION     NP_997002.1
DBSOURCE    REFSEQ: accession NM_207119.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 184)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 184)
  AUTHORS   Jahanshad N, Rajagopalan P, Hua X, Hibar DP, Nir TM, Toga AW, Jack
            CR Jr, Saykin AJ, Green RC, Weiner MW, Medland SE, Montgomery GW,
            Hansell NK, McMahon KL, de Zubicaray GI, Martin NG, Wright MJ and
            Thompson PM.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Genome-wide scan of healthy human connectome discovers SPON1 gene
            variant influencing dementia severity
  JOURNAL   Proc Natl Acad Sci U S A 110 (12), 4768-4773 (2013)
   PUBMED   23471985
REFERENCE   3  (residues 1 to 184)
  AUTHORS   Kariuki SN, Franek BS, Kumar AA, Arrington J, Mikolaitis RA, Utset
            TO, Jolly M, Crow MK, Skol AD and Niewold TB.
  TITLE     Trait-stratified genome-wide association study identifies novel and
            diverse genetic associations with serologic and cytokine phenotypes
            in systemic lupus erythematosus
  JOURNAL   Arthritis Res Ther 12 (4), R151 (2010)
   PUBMED   20659327
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   4  (residues 1 to 184)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe
            JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C,
            Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J,
            White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L,
            Morris JC, Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 184)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   6  (residues 1 to 184)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD,
            Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird
            G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson
            T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan
            S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou
            T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore
            N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J,
            Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead
            SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T,
            Doucette-Stamm L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   7  (residues 1 to 184)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022532.13 and AL355138.19.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1). Variants 1, 4, and
            5 all encode the same isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY358318.1, BC024001.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..184
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     Protein         1..184
                     /product="leucine-rich repeat-containing protein 20
                     isoform 1"
                     /note="leucine-rich repeat-containing protein 20"
                     /calculated_mol_wt=20378
     Region          <7..>184
                     /region_name="PRK15370"
                     /note="type III secretion system effector E3 ubiquitin
                     transferase SlrP"
                     /db_xref="CDD:185268"
     Region          26..47
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          51..72
                     /region_name="LRR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCA0.1)"
     Region          <74..161
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Region          75..96
                     /region_name="LRR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCA0.1)"
     Region          76..98
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          98..120
                     /region_name="LRR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCA0.1)"
     Region          99..121
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          121..141
                     /region_name="LRR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCA0.1)"
     Region          122..145
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          145..167
                     /region_name="LRR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCA0.1)"
     Site            175
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TCA0.1)"
     CDS             1..184
                     /gene="LRRC20"
                     /coded_by="NM_207119.3:131..685"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7302.1"
                     /db_xref="GeneID:55222"
                     /db_xref="HGNC:HGNC:23421"
ORIGIN      
        1 mlkkmgeava rvarkvnetv esgsdtldla ecklvsfpig iykvlrnvsg qihlitlann
       61 elksltskfm ttfsqlrelh legnflhrlp sevsalqhlk aidlsrnqfq dfpeqltalp
      121 aletinleen eivdvpvekl aampalrsin lrfnplnaev rviapplikf dmlmspegar
      181 aplp
//
LOCUS       NP_003926                862 aa            linear   PRI 27-DEC-2022
DEFINITION  DNA topoisomerase 3-beta-1 isoform 1 [Homo sapiens].
ACCESSION   NP_003926
VERSION     NP_003926.1
DBSOURCE    REFSEQ: accession NM_003935.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 862)
  AUTHORS   Yang X, Saha S, Yang W, Neuman KC and Pommier Y.
  TITLE     Structural and biochemical basis for DNA and RNA catalysis by human
            Topoisomerase 3beta
  JOURNAL   Nat Commun 13 (1), 4656 (2022)
   PUBMED   35945419
  REMARK    GeneRIF: Structural and biochemical basis for DNA and RNA catalysis
            by human Topoisomerase 3beta.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 862)
  AUTHORS   Su S, Xue Y, Sharov A, Zhang Y, Lee SK, Martindale JL, Li W, Ku WL,
            Zhao K, De S, Shen W, Sen P, Gorospe M, Xu D and Wang W.
  TITLE     A dual-activity topoisomerase complex regulates mRNA translation
            and turnover
  JOURNAL   Nucleic Acids Res 50 (12), 7013-7033 (2022)
   PUBMED   35748872
  REMARK    GeneRIF: A dual-activity topoisomerase complex regulates mRNA
            translation and turnover.
REFERENCE   3  (residues 1 to 862)
  AUTHORS   Saha S, Sun Y, Huang SN, Baechler SA, Pongor LS, Agama K, Jo U,
            Zhang H, Tse-Dinh YC and Pommier Y.
  TITLE     DNA and RNA Cleavage Complexes and Repair Pathway for TOP3B RNA-
            and DNA-Protein Crosslinks
  JOURNAL   Cell Rep 33 (13), 108569 (2020)
   PUBMED   33378676
  REMARK    GeneRIF: DNA and RNA Cleavage Complexes and Repair Pathway for
            TOP3B RNA- and DNA-Protein Crosslinks.
REFERENCE   4  (residues 1 to 862)
  AUTHORS   Prasanth KR, Hirano M, Fagg WS, McAnarney ET, Shan C, Xie X, Hage
            A, Pietzsch CA, Bukreyev A, Rajsbaum R, Shi PY, Bedford MT,
            Bradrick SS, Menachery V and Garcia-Blanco MA.
  TITLE     Topoisomerase III-beta is required for efficient replication of
            positive-sense RNA viruses
  JOURNAL   Antiviral Res 182, 104874 (2020)
   PUBMED   32735900
  REMARK    GeneRIF: Topoisomerase III-beta is required for efficient
            replication of positive-sense RNA viruses.
REFERENCE   5  (residues 1 to 862)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   6  (residues 1 to 862)
  AUTHORS   Oliveira-Costa JP, Zanetti J, Oliveira LR, Soares FA, Ramalho LZ,
            Silva Ramalho F, Garcia SB and Ribeiro-Silva A.
  TITLE     Significance of topoisomerase IIIbeta expression in breast ductal
            carcinomas: strong associations with disease-specific survival and
            metastasis
  JOURNAL   Hum Pathol 41 (11), 1624-1630 (2010)
   PUBMED   20950730
  REMARK    GeneRIF: Topoisomerase IIIbeta expression can be a useful marker in
            assessing the prognosis of patients with breast cancer and is an
            independent predictor of survival.
            Erratum:[Hum Pathol. 2012 Apr;43(4):618]
REFERENCE   7  (residues 1 to 862)
  AUTHORS   Cho YH, Park JY, Han SY and Chung IK.
  TITLE     Identification of the functional elements in the promoter region of
            human DNA topoisomerase IIIbeta gene
  JOURNAL   Biochim Biophys Acta 1679 (3), 272-278 (2004)
   PUBMED   15358519
  REMARK    GeneRIF: the positive regulatory region including the 5'GGAACC3'
            core element is essential for efficient expression of the DNA
            topoisomerase III beta gene
REFERENCE   8  (residues 1 to 862)
  AUTHORS   Kobayashi M and Hanai R.
  TITLE     M phase-specific association of human topoisomerase IIIbeta with
            chromosomes
  JOURNAL   Biochem Biophys Res Commun 287 (1), 282-287 (2001)
   PUBMED   11549288
  REMARK    GeneRIF: Two isoforms of human DNA topoisomerase IIIbeta were
            expressed in HeLa cells. Isoform 1 was localized to the nucleus and
            associated with chromosomes during metaphase and anaphase. Isoform
            2 was found in the cytoplasm.
REFERENCE   9  (residues 1 to 862)
  AUTHORS   Shimamoto A, Nishikawa K, Kitao S and Furuichi Y.
  TITLE     Human RecQ5beta, a large isomer of RecQ5 DNA helicase, localizes in
            the nucleoplasm and interacts with topoisomerases 3alpha and 3beta
  JOURNAL   Nucleic Acids Res 28 (7), 1647-1655 (2000)
   PUBMED   10710432
REFERENCE   10 (residues 1 to 862)
  AUTHORS   Ng SW, Liu Y, Hasselblatt KT, Mok SC and Berkowitz RS.
  TITLE     A new human topoisomerase III that interacts with SGS1 protein
  JOURNAL   Nucleic Acids Res 27 (4), 993-1000 (1999)
   PUBMED   9927731
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA025312.1, BC002432.2,
            CR456596.1 and BQ270362.1.
            
            Summary: This gene encodes a DNA topoisomerase, an enzyme that
            controls and alters the topologic states of DNA during
            transcription. This enzyme catalyzes the transient breaking and
            rejoining of a single strand of DNA which allows the strands to
            pass through one another, thus relaxing the supercoils and altering
            the topology of DNA. The enzyme interacts with DNA helicase SGS1
            and plays a role in DNA recombination, cellular aging and
            maintenance of genome stability. Low expression of this gene may be
            related to higher survival rates in breast cancer patients. This
            gene has a pseudogene on chromosome 22. Alternate splicing results
            in multiple transcript variants. Additional alternatively spliced
            transcript variants of this gene have been described, but their
            full-length nature is not known. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1-5 encode the same protein (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.174756.1, BC002432.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158188, SAMEA2162946
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..862
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.22"
     Protein         1..862
                     /product="DNA topoisomerase 3-beta-1 isoform 1"
                     /EC_number="5.6.2.1"
                     /note="topoisomerase III beta; DNA topoisomerase 3-beta-1;
                     topoisomerase (DNA) III beta; DNA topoisomerase III
                     beta-1"
                     /calculated_mol_wt=96531
     Region          3..167
                     /region_name="TOPRIM_TopoIA_TopoIII"
                     /note="The topoisomerase-primase (TORPIM) domain found in
                     members of the type IA family of DNA topoisomerases (Topo
                     IA) similar to topoisomerase III. Type IA DNA
                     topoisomerases remove (relax) negative supercoils in the
                     DNA by: cleaving one strand of the DNA...; cd03362"
                     /db_xref="CDD:173782"
     Site            order(9..10,13,117,119,121)
                     /site_type="active"
                     /db_xref="CDD:173782"
     Site            order(16,118,120,127..128,130..131)
                     /site_type="other"
                     /note="putative interdomain interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:173782"
     Site            order(117,119)
                     /site_type="other"
                     /note="putative metal-binding site [ion binding]"
                     /db_xref="CDD:173782"
     Site            120
                     /site_type="other"
                     /note="putative nucleotide binding site [chemical
                     binding]"
                     /db_xref="CDD:173782"
     Region          172..593
                     /region_name="TOP1Ac"
                     /note="DNA Topoisomerase, subtype IA; DNA-binding,
                     ATP-binding and catalytic domain of bacterial DNA
                     topoisomerases I and III, and eukaryotic DNA topoisomerase
                     III and eubacterial and archael reverse gyrases.
                     Topoisomerases clevage single or double stranded DNA...;
                     cd00186"
                     /db_xref="CDD:238110"
     Site            order(172..199,212..232)
                     /site_type="active"
                     /note="domain I [active]"
                     /db_xref="CDD:238110"
     Site            order(181..182,185,189,193,326,330,338,512..513,516..517,
                     519,523..524)
                     /site_type="DNA binding"
                     /note="DNA binding groove [nucleotide binding]"
                     /db_xref="CDD:238110"
     Site            order(223,227,549)
                     /site_type="other"
                     /note="phosphate binding site [ion binding]"
                     /db_xref="CDD:238110"
     Site            order(237..244,282..296,422..436,438..456,479..489)
                     /site_type="active"
                     /note="domain II [active]"
                     /db_xref="CDD:238110"
     Site            order(297..303,305..360,386..394,401..421)
                     /site_type="active"
                     /note="domain III [active]"
                     /db_xref="CDD:238110"
     Site            order(308,312..314,387,407,410,414,510,512,535)
                     /site_type="other"
                     /note="nucleotide binding site [chemical binding]"
                     /db_xref="CDD:238110"
     Site            order(336,338,387)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:238110"
     Site            order(490..530,535..549,555..593)
                     /site_type="active"
                     /note="domain IV [active]"
                     /db_xref="CDD:238110"
     Region          821..854
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95985.1)"
     CDS             1..862
                     /gene="TOP3B"
                     /gene_synonym="TOP3B1"
                     /coded_by="NM_003935.5:473..3061"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13797.1"
                     /db_xref="GeneID:8940"
                     /db_xref="HGNC:HGNC:11993"
                     /db_xref="MIM:603582"
ORIGIN      
        1 mktvlmvaek pslaqsiaki lsrgslsshk glngacsvhe ytgtfagqpv rfkmtsvcgh
       61 vmtldflgky nkwdkvdpae lfsqaptekk eanpklnmvk flqvegrgcd yivlwldcdk
      121 egenicfevl davlpvmnka hggektvfra rfssitdtdi cnamaclgep dhnealsvda
      181 rqeldlrigc aftrfqtkyf qgkygdldss lisfgpcqtp tlgfcverhd kiqsfkpety
      241 wvlqakvntd kdrsllldwd rvrvfdreia qmflnmtkle keaqveatsr kekakqrpla
      301 lntvemlrva ssslgmgpqh amqtaerlyt qgyisyprte tthypenfdl kgslrqqanh
      361 pywadtvkrl laeginrprk ghdagdhppi tpmksateae lggdawrlye yitrhfiatv
      421 shdckylqst isfrigpelf tcsgktvlsp gftevmpwqs vpleeslptc qrgdafpvge
      481 vkmlekqtnp pdylteaeli tlmekhgigt dasipvhinn icqrnyvtve sgrrlkptnl
      541 givlvhgyyk idaelvlpti rsavekqlnl iaqgkadyrq vlghtldvfk rkfhyfvdsi
      601 agmdelmevs fsplaatgkp lsrcgkchrf mkyiqakpsr lhcshcdety tlpqngtikl
      661 ykelrcpldd felvlwssgs rgksyplcpy cynhppfrdm kkgmgcnect hpscqhslsm
      721 lgigqcvece sgvlvldpts gpkwkvacnk cnvvahcfen ahrvrvsadt csvceaalld
      781 vdfnkakspl pgdetqhmgc vfcdpvfqel velkhaasch pmhrggpgrr qgrgrgrarr
      841 ppgkpnprrp kdkmsalaay fv
//
LOCUS       NP_001127914             544 aa            linear   PRI 28-DEC-2022
DEFINITION  zinc finger protein 502 [Homo sapiens].
ACCESSION   NP_001127914
VERSION     NP_001127914.1
DBSOURCE    REFSEQ: accession NM_001134442.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 544)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 544)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 544)
  AUTHORS   Kipper S, Hamad S, Caly L, Avrahami D, Bacharach E, Jans DA, Gerber
            D and Bajorek M.
  TITLE     New host factors important for respiratory syncytial virus (RSV)
            replication revealed by a novel microfluidics screen for
            interactors of matrix (M) protein
  JOURNAL   Mol Cell Proteomics 14 (3), 532-543 (2015)
   PUBMED   25556234
  REMARK    GeneRIF: Results present initial characterization of key proteins
            Cav2 and CFL1 as cellular factors that colocalize with M in viral
            inclusions and filaments and ZNF502 protein which appears to
            interact with RSV M in the nucleus.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC124045.2 and AC098649.2.
            
            Transcript Variant: This variant (4) differs in the 5' UTR,
            compared to variant 5. Variants 1-5 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK027761.1, SRR14038196.2286084.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000436624.7/ ENSP00000406469.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..544
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     Protein         1..544
                     /product="zinc finger protein 502"
                     /calculated_mol_wt=62789
     Region          151..538
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          157..177
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          185..205
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          213..233
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(218,220,222,224..225,228..229,232,246,248,252..253,
                     256..257,260,274,276,278,280..281,284..285,288)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          241..261
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          269..289
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          297..317
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          325..345
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(330,332,334,336..337,340..341,344,358,360,364..365,
                     368..369,372,386,388,390,392..393,396..397,400)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          353..373
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          381..401
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          409..429
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(414,416,418,420..421,424..425,428,442,444,448..449,
                     452..453,456,470,472,474,476..477,480..481,484)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          437..457
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          465..485
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          493..513
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          521..541
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..544
                     /gene="ZNF502"
                     /coded_by="NM_001134442.3:141..1775"
                     /db_xref="CCDS:CCDS2719.1"
                     /db_xref="GeneID:91392"
                     /db_xref="HGNC:HGNC:23718"
ORIGIN      
        1 mlnmqgaeer dirretcpgw vnknkpaleq dvckidssgi vvkrfqedey qdstfeekya
       61 cegmkenspr eiaesclfqe ggfgritfih keappeiisq gynfekslll tsslvtrlrv
      121 steeslhqwe tsniqtndis dqskcptlct qkkswkcnec gktftqsssl tqhqrthtge
      181 rpytceecgk afsrssflvq hqrihtgvkp ygceqcgktf rcrsfltqhq rihtgekpyk
      241 cnecgnsfrn hshltehqri htgekpykcn rcgkafnqnt hlihhqriht gekpyicsec
      301 gssfrkhsnl tqhqrihtge kphkcdecgk tfqtkanlsq hqrihsgekp ykckecgkaf
      361 cqspslikhq rihtgekpyk ckecgkaftq stpltkhqri htgerpykcs ecgkafiqsi
      421 clirhqrsht gekpykcnec gkgfnqntcl tqhmrihtge kpykckecgk afahssslte
      481 hhrthtgekl ykcsecektf rkyahlsehy rihtgekpye ciecgkffrh ssvlfrhqkl
      541 hsgd
//
LOCUS       NP_612196                623 aa            linear   PRI 29-DEC-2022
DEFINITION  proprotein convertase subtilisin/kexin type 6 isoform PACE4CS
            preproprotein [Homo sapiens].
ACCESSION   NP_612196
VERSION     NP_612196.1
DBSOURCE    REFSEQ: accession NM_138323.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 623)
  AUTHORS   Couture F, Wang L, Dufour F, Chabot-Maheux K, Ekindi Ndongo N,
            Sabbagh R and Day R.
  TITLE     PACE4-altCT isoform of proprotein convertase PACE4 as tissue and
            plasmatic biomarker for prostate cancer
  JOURNAL   Sci Rep 12 (1), 6066 (2022)
   PUBMED   35410344
  REMARK    GeneRIF: PACE4-altCT isoform of proprotein convertase PACE4 as
            tissue and plasmatic biomarker for prostate cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 623)
  AUTHORS   Zhao X, Zhang X, Wu Z, Mei J, Li L and Wang Y.
  TITLE     Up-regulation of microRNA-135 or silencing of PCSK6 attenuates
            inflammatory response in preeclampsia by restricting NLRP3
            inflammasome
  JOURNAL   Mol Med 27 (1), 82 (2021)
   PUBMED   34301174
  REMARK    GeneRIF: Up-regulation of microRNA-135 or silencing of PCSK6
            attenuates inflammatory response in preeclampsia by restricting
            NLRP3 inflammasome.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 623)
  AUTHORS   Testa G, Staurenghi E, Giannelli S, Sottero B, Gargiulo S, Poli G,
            Gamba P and Leonarduzzi G.
  TITLE     Up-regulation of PCSK6 by lipid oxidation products: A possible role
            in atherosclerosis
  JOURNAL   Biochimie 181, 191-203 (2021)
   PUBMED   33359561
  REMARK    GeneRIF: Up-regulation of PCSK6 by lipid oxidation products: A
            possible role in atherosclerosis.
REFERENCE   4  (residues 1 to 623)
  AUTHORS   Weishaupt C, Mastrofrancesco A, Metze D, Kemper B, Stegemann A,
            Picardo M, Klein-Szanto AJP and Bohm M.
  TITLE     Paired Basic Amino Acid-cleaving Enzyme 4 (PCSK6): An Emerging New
            Target Molecule in Human Melanoma
  JOURNAL   Acta Derm Venereol 100 (10), adv00157 (2020)
   PUBMED   32449780
  REMARK    GeneRIF: Paired Basic Amino Acid-cleaving Enzyme 4 (PCSK6): An
            Emerging New Target Molecule in Human Melanoma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 623)
  AUTHORS   Tsuji A, Hine C, Tamai Y, Yonemoto K, Mori K, Yoshida S, Bando M,
            Sakai E, Mori K, Akamatsu T and Matsuda Y.
  TITLE     Genomic organization and alternative splicing of human PACE4
            (SPC4), kexin-like processing endoprotease
  JOURNAL   J Biochem 122 (2), 438-452 (1997)
   PUBMED   9378725
REFERENCE   6  (residues 1 to 623)
  AUTHORS   Zhong M, Benjannet S, Lazure C, Munzer S and Seidah NG.
  TITLE     Functional analysis of human PACE4-A and PACE4-C isoforms:
            identification of a new PACE4-CS isoform
  JOURNAL   FEBS Lett 396 (1), 31-36 (1996)
   PUBMED   8906861
REFERENCE   7  (residues 1 to 623)
  AUTHORS   Tsuji,A., Higashine,K., Hine,C., Mori,K., Tamai,Y., Nagamune,H. and
            Matsuda,Y.
  TITLE     'Identification of novel cDNAs encoding human kexin-like protease,
            PACE4 isoforms.'
  JOURNAL   Biochem Biophys Res Commun 204 (3), 1381-1382 (1994)
   PUBMED   7980617
  REMARK    Correction to:[Biochem Biophys Res Commun. 1994 Apr
            29;200(2):943-50. PMID: 8179631]
REFERENCE   8  (residues 1 to 623)
  AUTHORS   Tsuji A, Higashine K, Hine C, Mori K, Tamai Y, Nagamune H and
            Matsuda Y.
  TITLE     Identification of novel cDNAs encoding human kexin-like protease,
            PACE4 isoforms
  JOURNAL   Biochem Biophys Res Commun 200 (2), 943-950 (1994)
   PUBMED   8179631
  REMARK    Erratum:[Biochem Biophys Res Commun. 1994 Nov 15;204(3):1381-2.
            PMID: 7980617]
REFERENCE   9  (residues 1 to 623)
  AUTHORS   Rehemtulla A, Barr PJ, Rhodes CJ and Kaufman RJ.
  TITLE     PACE4 is a member of the mammalian propeptidase family that has
            overlapping but not identical substrate specificity to PACE
  JOURNAL   Biochemistry 32 (43), 11586-11590 (1993)
   PUBMED   8218226
REFERENCE   10 (residues 1 to 623)
  AUTHORS   Kiefer MC, Tucker JE, Joh R, Landsberg KE, Saltman D and Barr PJ.
  TITLE     Identification of a second human subtilisin-like protease gene in
            the fes/fps region of chromosome 15
  JOURNAL   DNA Cell Biol 10 (10), 757-769 (1991)
   PUBMED   1741956
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M80482.1, AM491522.1,
            AL545278.3, BX428035.2, D28513.1 and AC023024.6.
            
            Summary: This gene encodes a member of the subtilisin-like
            proprotein convertase family, which includes proteases that process
            protein and peptide precursors trafficking through regulated or
            constitutive branches of the secretory pathway. The encoded protein
            undergoes an initial autocatalytic processing event in the ER to
            generate a heterodimer which exits the ER and sorts to the
            trans-Golgi network where a second autocatalytic event takes place
            and the catalytic activity is acquired. The encoded protease is
            constitutively secreted into the extracellular matrix and expressed
            in many tissues, including neuroendocrine, liver, gut, and brain.
            This gene encodes one of the seven basic amino acid-specific
            members which cleave their substrates at single or paired basic
            residues. Some of its substrates include transforming growth factor
            beta related proteins, proalbumin, and von Willebrand factor. This
            gene is thought to play a role in tumor progression and left-right
            patterning. Alternatively spliced transcript variants encoding
            different isoforms have been identified. [provided by RefSeq, Feb
            2014].
            
            Transcript Variant: This variant (5) uses an alternate exon in the
            3' coding region and lacks several downstream exons when compared
            to variant 1. These differences cause a frameshift and thus isoform
            PACE4CS has a distinct C-terminus compared to isoform PACE4-AI.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372080.3140032.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..623
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     Protein         1..623
                     /product="proprotein convertase subtilisin/kexin type 6
                     isoform PACE4CS preproprotein"
                     /EC_number="3.4.21.-"
                     /note="paired basic amino acid cleaving system 4;
                     subtilisin-like proprotein convertase 4;
                     subtilisin/kexin-like protease PACE4; paired basic amino
                     acid cleaving enzyme 4"
                     /calculated_mol_wt=62268
     sig_peptide     1..63
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P29122.1)"
                     /calculated_mol_wt=5988
     Region          1..39
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P29122.1)"
     Region          73..149
                     /region_name="S8_pro-domain"
                     /note="Peptidase S8 pro-domain; pfam16470"
                     /db_xref="CDD:435357"
     Site            149..150
                     /site_type="cleavage"
                     /note="Cleavage, by autolysis.
                     /evidence=ECO:0000269|PubMed:9738469; propagated from
                     UniProtKB/Swiss-Prot (P29122.1)"
     Region          160..454
                     /region_name="Peptidases_S8_Protein_convertases_Kexins_Fur
                     in-lik"
                     /note="Peptidase S8 family domain in Protein convertases;
                     cd04059"
                     /db_xref="CDD:173789"
     Site            order(162,214,260)
                     /site_type="other"
                     /note="calcium binding site 1 [ion binding]"
                     /db_xref="CDD:173789"
     Site            order(205..206,243,246,288,306,316,347,358,420)
                     /site_type="active"
                     /db_xref="CDD:173789"
     Site            order(205,246,420)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:173789"
     Site            259
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P29122.1)"
     Site            order(353,383)
                     /site_type="other"
                     /note="calcium binding site 2 [ion binding]"
                     /db_xref="CDD:173789"
     Site            order(361,363,366,368)
                     /site_type="other"
                     /note="calcium binding site 3 [ion binding]"
                     /db_xref="CDD:173789"
     Region          539..623
                     /region_name="P_proprotein"
                     /note="Proprotein convertase P-domain; pfam01483"
                     /db_xref="CDD:426283"
     Region          553..555
                     /region_name="Cell attachment site. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P29122.1)"
     CDS             1..623
                     /gene="PCSK6"
                     /gene_synonym="PACE4; SPC4"
                     /coded_by="NM_138323.3:38..1909"
                     /note="isoform PACE4CS preproprotein is encoded by
                     transcript variant 5"
                     /db_xref="CCDS:CCDS73791.1"
                     /db_xref="GeneID:5046"
                     /db_xref="HGNC:HGNC:8569"
                     /db_xref="MIM:167405"
ORIGIN      
        1 mpprappapg prpppraaaa tdtaagagga ggaggaggpg frplaprpwr wllllalpaa
       61 csappprpvy tnhwavqvlg gpaeadrvaa ahgylnlgqi gnledyyhfy hsktfkrstl
      121 ssrgphtflr mdpqvkwlqq qevkrrvkrq vrsdpqalyf ndpiwsnmwy lhcgdknsrc
      181 rsemnvqaaw krgytgknvv vtilddgier nhpdlapnyd syasydvngn dydpspryda
      241 snenkhgtrc agevaasann sycivgiayn akiggirmld gdvtdvveak slgirpnyid
      301 iysaswgpdd dgktvdgpgr lakqafeygi kkgrqglgsi fvwasgnggr egdycscdgy
      361 tnsiytisvs satengykpw yleecastla ttyssgafye rkivttdlrq rctdghtgts
      421 vsapmvagii alaleansql twrdvqhllv ktsrpahlka sdwkvngagh kvshfygfgl
      481 vdaealvvea kkwtavpsqh mcvaasdkrp rsiplvqvlr ttaltsacae hsdqrvvyle
      541 hvvvrtsish prrgdlqiyl vspsgtksql lakrlldlsn egftnwefmt vhcwgekaeg
      601 qwtleiqdlp sqvrnpekqg nld
//
LOCUS       NP_001369659             294 aa            linear   PRI 29-DEC-2022
DEFINITION  junctional adhesion molecule A isoform 8 precursor [Homo sapiens].
ACCESSION   NP_001369659
VERSION     NP_001369659.1
DBSOURCE    REFSEQ: accession NM_001382730.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 294)
  AUTHORS   Cruz RGB, Madden SF, Brennan K and Hopkins AM.
  TITLE     A Transcriptional Link between HER2, JAM-A and FOXA1 in Breast
            Cancer
  JOURNAL   Cells 11 (4), 735 (2022)
   PUBMED   35203384
  REMARK    GeneRIF: A Transcriptional Link between HER2, JAM-A and FOXA1 in
            Breast Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 294)
  AUTHORS   Lampis A, Hahne JC, Gasparini P, Cascione L, Hedayat S,
            Vlachogiannis G, Murgia C, Fontana E, Edwards J, Horgan PG,
            Terracciano L, Sansom OJ, Martins CD, Kramer-Marek G, Croce CM,
            Braconi C, Fassan M and Valeri N.
  TITLE     MIR21-induced loss of junctional adhesion molecule A promotes
            activation of oncogenic pathways, progression and metastasis in
            colorectal cancer
  JOURNAL   Cell Death Differ 28 (10), 2970-2982 (2021)
   PUBMED   34226680
  REMARK    GeneRIF: MIR21-induced loss of junctional adhesion molecule A
            promotes activation of oncogenic pathways, progression and
            metastasis in colorectal cancer.
REFERENCE   3  (residues 1 to 294)
  AUTHORS   Bonilha CS, Benson RA, Scales HE, Brewer JM and Garside P.
  TITLE     Junctional adhesion molecule-A on dendritic cells regulates Th1
            differentiation
  JOURNAL   Immunol Lett 235, 32-40 (2021)
   PUBMED   34000305
  REMARK    GeneRIF: Junctional adhesion molecule-A on dendritic cells
            regulates Th1 differentiation.
REFERENCE   4  (residues 1 to 294)
  AUTHORS   Garrido-Urbani S, Bradfield PF and Imhof BA.
  TITLE     Tight junction dynamics: the role of junctional adhesion molecules
            (JAMs)
  JOURNAL   Cell Tissue Res 355 (3), 701-715 (2014)
   PUBMED   24595739
  REMARK    Review article
REFERENCE   5  (residues 1 to 294)
  AUTHORS   Martin TA, Mason MD and Jiang WG.
  TITLE     Tight junctions in cancer metastasis
  JOURNAL   Front Biosci (Landmark Ed) 16 (3), 898-936 (2011)
   PUBMED   21196209
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 294)
  AUTHORS   Severson EA and Parkos CA.
  TITLE     Mechanisms of outside-in signaling at the tight junction by
            junctional adhesion molecule A
  JOURNAL   Ann N Y Acad Sci 1165, 10-18 (2009)
   PUBMED   19538282
  REMARK    Review article
REFERENCE   7  (residues 1 to 294)
  AUTHORS   Naik TU, Naik MU and Naik UP.
  TITLE     Junctional adhesion molecules in angiogenesis
  JOURNAL   Front Biosci 13, 258-262 (2008)
   PUBMED   17981544
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 294)
  AUTHORS   Sobocka MB, Sobocki T, Banerjee P, Weiss C, Rushbrook JI, Norin AJ,
            Hartwig J, Salifu MO, Markell MS, Babinska A, Ehrlich YH and
            Kornecki E.
  TITLE     Cloning of the human platelet F11 receptor: a cell adhesion
            molecule member of the immunoglobulin superfamily involved in
            platelet aggregation
  JOURNAL   Blood 95 (8), 2600-2609 (2000)
   PUBMED   10753840
  REMARK    GeneRIF: The F11 receptor (F11R) was discovered in 1990 (Kornecki
            et al.), partially sequenced (1995) and cloned (Sobocka, et al) by
            this group. A 100% homology exists between platelet F11R and JAM.
REFERENCE   9  (residues 1 to 294)
  AUTHORS   Naik UP, Ehrlich YH and Kornecki E.
  TITLE     Mechanisms of platelet activation by a stimulatory antibody:
            cross-linking of a novel platelet receptor for monoclonal antibody
            F11 with the Fc gamma RII receptor
  JOURNAL   Biochem J 310 (Pt 1) (Pt 1), 155-162 (1995)
   PUBMED   7646439
REFERENCE   10 (residues 1 to 294)
  AUTHORS   Kornecki E, Walkowiak B, Naik UP and Ehrlich YH.
  TITLE     Activation of human platelets by a stimulatory monoclonal antibody
  JOURNAL   J Biol Chem 265 (17), 10042-10048 (1990)
   PUBMED   2351647
  REMARK    GeneRIF: F11 receptor (F11R) was discovered by Kornecki, 1990 (JBC,
            265:10042) on platelets.  A 100% homology exists between the
            platelet F11R and human JAM at the protein level.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL591806.16.
            
            Summary: Tight junctions represent one mode of cell-to-cell
            adhesion in epithelial or endothelial cell sheets, forming
            continuous seals around cells and serving as a physical barrier to
            prevent solutes and water from passing freely through the
            paracellular space. The protein encoded by this immunoglobulin
            superfamily gene member is an important regulator of tight junction
            assembly in epithelia. In addition, the encoded protein can act as
            (1) a receptor for reovirus, (2) a ligand for the integrin LFA1,
            involved in leukocyte transmigration, and (3) a platelet receptor.
            Multiple 5' alternatively spliced variants, encoding the same
            protein, have been identified but their biological validity has not
            been established. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..294
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     Protein         1..294
                     /product="junctional adhesion molecule A isoform 8
                     precursor"
                     /note="junctional adhesion molecule 1; platelet F11
                     receptor; junctional adhesion molecule A; platelet
                     adhesion molecule 1"
                     /calculated_mol_wt=29093
     sig_peptide     1..27
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2919
     Region          30..129
                     /region_name="IgV_1_JAM1-like"
                     /note="First Ig-like domain of Junctional adhesion
                     molecule-1 (JAM1)and similar domains; a member of the
                     V-set of IgSF domains; cd20946"
                     /db_xref="CDD:409538"
     Region          30..52
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409538"
     Region          30..33
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409538"
     Region          37..41
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409538"
     Region          44..53
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409538"
     Region          53..58
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409538"
     Region          58..66
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409538"
     Region          59..66
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409538"
     Region          69..83
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409538"
     Region          69..74
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409538"
     Region          77..79
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409538"
     Region          84..112
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409538"
     Region          86..90
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409538"
     Region          92..96
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409538"
     Region          105..113
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409538"
     Region          113..119
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409538"
     Region          119..128
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409538"
     Region          120..129
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409538"
     Region          135..231
                     /region_name="IgI_2_JAM1"
                     /note="Second Ig-like domain of Junctional adhesion
                     molecule-1 (JAM1); a member of the I-set of IgSF domains;
                     cd20950"
                     /db_xref="CDD:409542"
     Region          135..139
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409542"
     Region          141..144
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409542"
     Region          147..155
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409542"
     Region          163..168
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409542"
     Region          170..172
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409542"
     Site            185
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q9Y624.1)"
     Region          187..191
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409542"
     Region          195..199
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409542"
     Region          208..214
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409542"
     Region          221..231
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409542"
     Site            239..259
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y624.1)"
     Site            281
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9Y624.1)"
     Site            284
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9Y624.1)"
     Site            285..286
                     /site_type="other"
                     /note="(Microbial infection) Cleavage, by H.pylori PqqE.
                     /evidence=ECO:0000269|PubMed:33970782; propagated from
                     UniProtKB/Swiss-Prot (Q9Y624.1)"
     Site            287
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y624.1)"
     CDS             1..294
                     /gene="F11R"
                     /gene_synonym="CD321; JAM; JAM1; JAMA; JCAM; KAT; PAM-1"
                     /coded_by="NM_001382730.1:80..964"
                     /note="isoform 8 precursor is encoded by transcript
                     variant 8"
                     /db_xref="GeneID:50848"
                     /db_xref="HGNC:HGNC:14685"
                     /db_xref="MIM:605721"
ORIGIN      
        1 mgtkaqverk llclfilail lcslalgsvt vhssepevri pennpvklsc aysgfssprv
       61 ewkfdqgdtt rlvcynnkit asyedrvtfl ptgitfksvt redtgtytcm vseeggnsyg
      121 evkvklivlv ppskptvnip ssatignrav ltcseqdgsp pseytwfkdg ivmptnpkst
      181 rafsnssyvl npttgelvfd plsasdtgey scearngygt pmtsnavrme avernvgviv
      241 aavlvtlill gilvfgiwfa ysrghfdrtk kgtsskkviy sqpsarsets sflv
//
LOCUS       NP_001339802             965 aa            linear   PRI 29-DEC-2022
DEFINITION  suppression of tumorigenicity 18 protein isoform d [Homo sapiens].
ACCESSION   NP_001339802
VERSION     NP_001339802.1
DBSOURCE    REFSEQ: accession NM_001352873.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 965)
  AUTHORS   Assaf S, Vodo D, Malovitski K, Mohamad J, Bergson S, Feller Y,
            Malki L, Sarig O and Sprecher E.
  TITLE     Up-regulation of ST18 in pemphigus vulgaris drives a
            self-amplifying p53-dependent pathomechanism resulting in decreased
            desmoglein 3 expression
  JOURNAL   Sci Rep 12 (1), 5958 (2022)
   PUBMED   35396567
  REMARK    GeneRIF: Up-regulation of ST18 in pemphigus vulgaris drives a
            self-amplifying p53-dependent pathomechanism resulting in decreased
            desmoglein 3 expression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 965)
  AUTHORS   Skou AS, Juul-Dam KL, Hansen M, Lausen B, Stratmann S, Holmfeldt L,
            Aggerholm A, Nyvold CG, Ommen HB and Hasle H.
  TITLE     Measurable Residual Disease Monitoring of SPAG6, ST18, PRAME, and
            XAGE1A Expression in Peripheral Blood May Detect Imminent Relapse
            in Childhood Acute Myeloid Leukemia
  JOURNAL   J Mol Diagn 23 (12), 1787-1799 (2021)
   PUBMED   34600138
  REMARK    GeneRIF: Measurable Residual Disease Monitoring of SPAG6, ST18,
            PRAME, and XAGE1A Expression in Peripheral Blood May Detect
            Imminent Relapse in Childhood Acute Myeloid Leukemia.
REFERENCE   3  (residues 1 to 965)
  AUTHORS   Kim BH, Nho K and Lee JM.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Genome-wide association study identifies susceptibility loci of
            brain atrophy to NFIA and ST18 in Alzheimer's disease
  JOURNAL   Neurobiol Aging 102, 200 (2021)
   PUBMED   33640202
  REMARK    GeneRIF: Genome-wide association study identifies susceptibility
            loci of brain atrophy to NFIA and ST18 in Alzheimer's disease.
REFERENCE   4  (residues 1 to 965)
  AUTHORS   Assaf S, Malki L, Mayer T, Mohamad J, Peled A, Pavlovsky M,
            Malovitski K, Sarig O, Vodo D and Sprecher E.
  TITLE     ST18 affects cell-cell adhesion in pemphigus vulgaris in a tumour
            necrosis factor-alpha-dependent fashion
  JOURNAL   Br J Dermatol 184 (6), 1153-1160 (2021)
   PUBMED   33205400
  REMARK    GeneRIF: ST18 affects cell-cell adhesion in pemphigus vulgaris in a
            tumour necrosis factor-alpha-dependent fashion.
REFERENCE   5  (residues 1 to 965)
  AUTHORS   Radeva MY, Walter E, Stach RA, Yazdi AS, Schlegel N, Sarig O,
            Sprecher E and Waschke J.
  TITLE     ST18 Enhances PV-IgG-Induced Loss of Keratinocyte Cohesion in
            Parallel to Increased ERK Activation
  JOURNAL   Front Immunol 10, 770 (2019)
   PUBMED   31057535
  REMARK    GeneRIF: ST18 Enhances PV-IgG-Induced Loss of Keratinocyte Cohesion
            in Parallel to Increased ERK Activation.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 965)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (residues 1 to 965)
  AUTHORS   Yang J, Siqueira MF, Behl Y, Alikhani M and Graves DT.
  TITLE     The transcription factor ST18 regulates proapoptotic and
            proinflammatory gene expression in fibroblasts
  JOURNAL   FASEB J 22 (11), 3956-3967 (2008)
   PUBMED   18676404
  REMARK    GeneRIF: Fibroblasts that overexpress ST18 by transient
            transfection exhibit significantly increased apoptosis and
            increased expression of TNF-alpha, interleukin (IL) -1alpha, and
            IL-6.
REFERENCE   8  (residues 1 to 965)
  AUTHORS   Jandrig B, Seitz S, Hinzmann B, Arnold W, Micheel B, Koelble K,
            Siebert R, Schwartz A, Ruecker K, Schlag PM, Scherneck S and
            Rosenthal A.
  TITLE     ST18 is a breast cancer tumor suppressor gene at human chromosome
            8q11.2
  JOURNAL   Oncogene 23 (57), 9295-9302 (2004)
   PUBMED   15489893
  REMARK    GeneRIF: ectopic ST18 expression in MCF-7 breast cancer cells
            strongly inhibits colony formation in soft agar and the formation
            of tumors in a xenograft mouse model
REFERENCE   9  (residues 1 to 965)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 965)
  AUTHORS   Yee KS and Yu VC.
  TITLE     Isolation and characterization of a novel member of the neural zinc
            finger factor/myelin transcription factor family with
            transcriptional repression activity
  JOURNAL   J Biol Chem 273 (9), 5366-5374 (1998)
   PUBMED   9478997
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC021915.11.
            
            Transcript Variant: This variant (49) encodes isoform d. Variants
            46-51 all encode isoform d.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.103353.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..965
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q11.23"
     Protein         1..965
                     /product="suppression of tumorigenicity 18 protein isoform
                     d"
                     /note="zinc finger protein 387; suppression of
                     tumorigenicity 18 (breast carcinoma) (zinc finger
                     protein); suppression of tumorigenicity 18, zinc finger;
                     neural zinc finger transcription factor 3; ST18,
                     C2H2C-type zinc finger; suppression of tumorigenicity 18
                     protein"
                     /calculated_mol_wt=106079
     Region          367..393
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          411..439
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          480..633
                     /region_name="MYT1"
                     /note="Myelin transcription factor 1; pfam08474"
                     /db_xref="CDD:430017"
     Region          641..669
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          685..713
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          733..761
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          787..813
                     /region_name="zf-C2HC"
                     /note="Zinc finger, C2HC type; pfam01530"
                     /db_xref="CDD:426309"
     Region          839..924
                     /region_name="Com_YlbF"
                     /note="Control of competence regulator ComK, YlbF/YmcA;
                     cl42071"
                     /db_xref="CDD:455416"
     CDS             1..965
                     /gene="ST18"
                     /gene_synonym="NZF-3; NZF3; ZC2H2C3; ZC2HC10; ZNF387"
                     /coded_by="NM_001352873.2:146..3043"
                     /note="isoform d is encoded by transcript variant 49"
                     /db_xref="GeneID:9705"
                     /db_xref="HGNC:HGNC:18695"
                     /db_xref="MIM:617155"
ORIGIN      
        1 mdaeaedktl rtrskgtevp mdsliqelsv aydcsmakkr taedqalgvp vnkrksllmk
       61 prhyspkadc qedrsdrted dgplethghs taeeimikpm desllstaqe nssrkedrys
      121 cyqelmvksl mhlgkfeknv svqtvsenln dsgiqslkae sdeadecfli hsddgrdkid
      181 dsqppfcssd dnesnsesae ngwdsgsnfs eetkpprvpk yvltdhkkdl levpeikteg
      241 dkfipcenrc dseterkdpq nalaepldgn aqpsfpdvee edseslavmt eegsdlekak
      301 gnlslleqai alqaergcvf hntykeldrf llehlagerr qtkvidmggr qifnnkhspr
      361 pekretkcpi pgcdgtghvt glyphhrsls gcphkvrvpl eilamhenvl kcptpgctgr
      421 ghvnsnrnth rslsgcpiaa aeklamsqdk nqldspqtgq cpdqahrtsl vkqiefnfps
      481 qaitspratv skeqekfgkv pfdyasfdaq vfgkrpliqt vqgrktppfp eskhfpnpvk
      541 fpnrlpsaga htqspgrass ysygqcsedt hiaaaaailn lstrcreatd ilsnkpqslh
      601 akkdpvssle nleekkfpge asipspkpkl hardlkkeli tcptpgcdgs ghvtgnyash
      661 rsvsgcplad ktlkslmaan sqelkcptpg cdgsghvtgn yashrslsgc prarkggvkm
      721 tptkeekedp elkcpvigcd gqghisgkyt shrtasgcpl aakrqkenpl ngaslswkln
      781 kqelphcplp gcnglghvnn vfvthrslsg cplnaqvikk gkvseelmti klkatggies
      841 deeirhldee ikelnesnlk ieadmmklqt qitsmesnlk tieeenklie qnnesllkel
      901 aglsqaliss ladiqlpqmg piseqnfeay vntltdmysn lerdyspeck allesikqav
      961 kgihv
//
LOCUS       NP_001186182             275 aa            linear   PRI 30-DEC-2022
DEFINITION  shugoshin 1 isoform 1CD [Homo sapiens].
ACCESSION   NP_001186182
VERSION     NP_001186182.1
DBSOURCE    REFSEQ: accession NM_001199253.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 275)
  AUTHORS   Ueki Y, Hadders MA, Weisser MB, Nasa I, Sotelo-Parrilla P, Cressey
            LE, Gupta T, Hertz EPT, Kruse T, Montoya G, Jeyaprakash AA,
            Kettenbach A, Lens SMA and Nilsson J.
  TITLE     A highly conserved pocket on PP2A-B56 is required for hSgo1 binding
            and cohesion protection during mitosis
  JOURNAL   EMBO Rep 22 (7), e52295 (2021)
   PUBMED   33973335
  REMARK    GeneRIF: A highly conserved pocket on PP2A-B56 is required for
            hSgo1 binding and cohesion protection during mitosis.
REFERENCE   2  (residues 1 to 275)
  AUTHORS   Liu D, Song AT, Qi X, van Vliet PP, Xiao J, Xiong F, Andelfinger G
            and Nattel S.
  TITLE     Cohesin-protein Shugoshin-1 controls cardiac automaticity via HCN4
            pacemaker channel
  JOURNAL   Nat Commun 12 (1), 2551 (2021)
   PUBMED   33953173
  REMARK    GeneRIF: Cohesin-protein Shugoshin-1 controls cardiac automaticity
            via HCN4 pacemaker channel.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 275)
  AUTHORS   Qu Q, Zhang Q, Yang L, Chen Y and Liu H.
  TITLE     SET binding to Sgo1 inhibits Sgo1-cohesin interactions and promotes
            chromosome segregation
  JOURNAL   J Cell Biol 218 (8), 2514-2528 (2019)
   PUBMED   31227592
  REMARK    GeneRIF: a major function of SET during mitosis is to disrupt the
            Sgo1-cohesin interaction.
REFERENCE   4  (residues 1 to 275)
  AUTHORS   Chetaille P, Preuss C, Burkhard S, Cote JM, Houde C, Castilloux J,
            Piche J, Gosset N, Leclerc S, Wunnemann F, Thibeault M, Gagnon C,
            Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, de
            Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC,
            Gallo-McFarlane E, Benson DW, Moreau C, Labuda D, Zhan SH, Shen Y,
            Jomphe M, Jones SJ, Bakkers J and Andelfinger G.
  CONSRTM   FORGE Canada Consortium
  TITLE     Mutations in SGOL1 cause a novel cohesinopathy affecting heart and
            gut rhythm
  JOURNAL   Nat Genet 46 (11), 1245-1249 (2014)
   PUBMED   25282101
  REMARK    GeneRIF: Mutations in SGOL1 cause a novel cohesinopathy affecting
            heart and gut rhythm.
REFERENCE   5  (residues 1 to 275)
  AUTHORS   Wang X, Yang Y, Duan Q, Jiang N, Huang Y, Darzynkiewicz Z and Dai
            W.
  TITLE     sSgo1, a major splice variant of Sgo1, functions in centriole
            cohesion where it is regulated by Plk1
  JOURNAL   Dev Cell 14 (3), 331-341 (2008)
   PUBMED   18331714
  REMARK    GeneRIF: Centriole splitting induced by Sgo1 depletion or
            expression of a dominant negative mutant is suppressed by ectopic
            expression of sSgo1 or by Plk1 knockdown.
REFERENCE   6  (residues 1 to 275)
  AUTHORS   Kitajima TS, Sakuno T, Ishiguro K, Iemura S, Natsume T, Kawashima
            SA and Watanabe Y.
  TITLE     Shugoshin collaborates with protein phosphatase 2A to protect
            cohesin
  JOURNAL   Nature 441 (7089), 46-52 (2006)
   PUBMED   16541025
  REMARK    GeneRIF: a specific subtype of serine/threonine protein phosphatase
            2A (PP2A) associates with human shugoshin
REFERENCE   7  (residues 1 to 275)
  AUTHORS   Wang X, Yang Y and Dai W.
  TITLE     Differential subcellular localizations of two human Sgo1 isoforms:
            implications in regulation of sister chromatid cohesion and
            microtubule dynamics
  JOURNAL   Cell Cycle 5 (6), 635-640 (2006)
   PUBMED   16582621
REFERENCE   8  (residues 1 to 275)
  AUTHORS   McGuinness BE, Hirota T, Kudo NR, Peters JM and Nasmyth K.
  TITLE     Shugoshin prevents dissociation of cohesin from centromeres during
            mitosis in vertebrate cells
  JOURNAL   PLoS Biol 3 (3), e86 (2005)
   PUBMED   15737064
  REMARK    GeneRIF: A shugoshin-like protein associates with centromeres
            during prophase and disappears at the onset of anaphase
REFERENCE   9  (residues 1 to 275)
  AUTHORS   Tang Z, Sun Y, Harley SE, Zou H and Yu H.
  TITLE     Human Bub1 protects centromeric sister-chromatid cohesion through
            Shugoshin during mitosis
  JOURNAL   Proc Natl Acad Sci U S A 101 (52), 18012-18017 (2004)
   PUBMED   15604152
  REMARK    GeneRIF: Bub1 protects centromeric cohesion through Shugoshin in
            mitosis
REFERENCE   10 (residues 1 to 275)
  AUTHORS   Scanlan MJ, Gout I, Gordon CM, Williamson B, Stockert E, Gure AO,
            Jager D, Chen YT, Mackay A, O'Hare MJ and Old LJ.
  TITLE     Humoral immunity to human breast cancer: antigen definition and
            quantitative analysis of mRNA expression
  JOURNAL   Cancer Immun 1, 4 (2001)
   PUBMED   12747765
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX494477.1, AB193059.1,
            AF308299.1, BC032696.1, BX648516.1 and AC099057.3.
            
            Summary: The protein encoded by this gene is a member of the
            shugoshin family of proteins. This protein is thought to protect
            centromeric cohesin from cleavage during mitotic prophase by
            preventing phosphorylation of a cohesin subunit. Reduced expression
            of this gene leads to the premature loss of centromeric cohesion,
            mis-segregation of sister chromatids, and mitotic arrest. Evidence
            suggests that this protein also protects a small subset of cohesin
            found along the length of the chromosome arms during mitotic
            prophase. An isoform lacking exon 6 has been shown to play a role
            in the cohesion of centrioles (PMID: 16582621 and PMID:18331714).
            Mutations in this gene have been associated with Chronic Atrial and
            Intestinal Dysrhythmia (CAID) syndrome, characterized by the
            co-occurrence of Sick Sinus Syndrome (SSS) and Chronic Intestinal
            Pseudo-obstruction (CIPO) within the first four decades of life
            (PMID:25282101). Fibroblast cells from CAID patients exhibited both
            increased cell proliferation and higher rates of senescence.
            Pseudogenes of this gene have been found on chromosomes 1 and 7.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2015].
            
            Transcript Variant: This variant (Sgo1D, PMID:15737064) uses an
            alternate in-frame splice site in its central coding region
            compared to variant 1. It encodes isoform 1CD which is shorter and
            has a distinct internal amino acid, compared to isoform 1. Both
            variants Sgo1C and Sgo1D encode the same isoform (1CD).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.1560325.1,
                                           SRR14038193.3870051.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267758, SAMN03267770
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..275
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.3"
     Protein         1..275
                     /product="shugoshin 1 isoform 1CD"
                     /note="shugoshin 1AB protein; shugoshin 1CD protein;
                     shugoshin 1EF protein; shugoshin 1GH protein; shugoshin
                     1KL protein; serologically defined breast cancer antigen
                     NY-BR-85"
                     /calculated_mol_wt=31145
     Region          1..176
                     /region_name="Necessary for interaction with PPP2CA and
                     PPP2R1A. /evidence=ECO:0000269|PubMed:16580887"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5FBB7.1)"
     Site            14
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by NEK2.
                     /evidence=ECO:0000269|PubMed:17621308; propagated from
                     UniProtKB/Swiss-Prot (Q5FBB7.1)"
     Region          22..66
                     /region_name="Shugoshin_N"
                     /note="Shugoshin N-terminal coiled-coil region; pfam07558"
                     /db_xref="CDD:429536"
     Region          222..243
                     /region_name="Shugoshin_C"
                     /note="Shugoshin C-terminus; pfam07557"
                     /db_xref="CDD:429535"
     CDS             1..275
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /coded_by="NM_001199253.3:267..1094"
                     /note="isoform 1CD is encoded by transcript variant Sgo1D"
                     /db_xref="CCDS:CCDS46774.1"
                     /db_xref="GeneID:151648"
                     /db_xref="HGNC:HGNC:25088"
                     /db_xref="MIM:609168"
ORIGIN      
        1 makerclkks fqdsledikk rmkekrnknl aeigkrrsfi aapcqiitnt stllknyqdn
       61 nkmlvlalen ekskvkeaqd iilqlrkecy yltcqlyalk gkltsqqtve paqnqeicss
      121 gmdpnsddss rnlfvkdlpq ipleetelpg qgesfqiedq iptipqdtlg vdfdsatppe
      181 tqqsphlslk ditnvslypv vkirrlslsp kknkaspava lpkrrctasv nykeptlask
      241 lrrgdpftdl cflnspifkq kkdlrrskks mkqiq
//
LOCUS       NP_031363               1778 aa            linear   PRI 30-DEC-2022
DEFINITION  deleted in lung and esophageal cancer protein 1 isoform DLEC1-S3
            [Homo sapiens].
ACCESSION   NP_031363
VERSION     NP_031363.2
DBSOURCE    REFSEQ: accession NM_007337.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1778)
  AUTHORS   Chou YH, Tantoh DM, Wu MC, Tyan YS, Chen PH, Nfor ON, Hsu SY, Shen
            CY, Huang CN and Liaw YP.
  TITLE     PM2.5 exposure and DLEC1 promoter methylation in Taiwan Biobank
            participants
  JOURNAL   Environ Health Prev Med 25 (1), 68 (2020)
   PUBMED   33153431
  REMARK    GeneRIF: PM2.5 exposure and DLEC1 promoter methylation in Taiwan
            Biobank participants.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1778)
  AUTHORS   Okitsu Y, Nagano M, Yamagata T, Ito C, Toshimori K, Dohra H, Fujii
            W and Yogo K.
  TITLE     Dlec1 is required for spermatogenesis and male fertility in mice
  JOURNAL   Sci Rep 10 (1), 18883 (2020)
   PUBMED   33144677
  REMARK    GeneRIF: Dlec1 is required for spermatogenesis and male fertility
            in mice.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1778)
  AUTHORS   Xie W, Zhou H, Han Q, Sun T, Nie C, Hong J, Wei R, Leonteva A, Han
            X, Wang J, Du X, Zhu L, Zhao Y, Tian W and Xue Y.
  TITLE     Relationship between DLEC1 and PBX3 promoter methylation and the
            risk and prognosis of gastric cancer in peripheral blood leukocytes
  JOURNAL   J Cancer Res Clin Oncol 146 (5), 1115-1124 (2020)
   PUBMED   32144534
  REMARK    GeneRIF: Compared with negative methylation (Nm), DLEC1-positive
            methylation (Pm) was associated with increased GC risk in PS (OR
            2.083, 95% CI 1.220-3.558, P = 0.007), but PBX3 Pm was not
            associated with GC risk.
REFERENCE   4  (residues 1 to 1778)
  AUTHORS   Brany D, Dvorska D, Grendar M, Nachajova M, Szepe P, Lasabova Z,
            Zubor P, Visnovsky J and Halasova E.
  TITLE     Different methylation levels in the KLF4, ATF3 and DLEC1 genes in
            the myometrium and in corpus uteri mesenchymal tumours as assessed
            by MS-HRM
  JOURNAL   Pathol Res Pract 215 (8), 152465 (2019)
   PUBMED   31176573
  REMARK    GeneRIF: that the KLF4 and DLEC1 genes can be considered potential
            methylation biomarkers for uterine leiomyomas
REFERENCE   5  (residues 1 to 1778)
  AUTHORS   Kim Y, Lee K, Jeong S, Wen X, Cho NY and Kang GH.
  TITLE     DLEC1 methylation is associated with a better clinical outcome in
            patients with intrahepatic cholangiocarcinoma of the small duct
            subtype
  JOURNAL   Virchows Arch 475 (1), 49-58 (2019)
   PUBMED   30610381
  REMARK    GeneRIF: DLEC1 methylation can be utilized to identify a subset
            with a better prognosis in intrahepatic cholangiocarcinomas of the
            small duct type.
REFERENCE   6  (residues 1 to 1778)
  AUTHORS   Seng TJ, Currey N, Cooper WA, Lee CS, Chan C, Horvath L, Sutherland
            RL, Kennedy C, McCaughan B and Kohonen-Corish MR.
  TITLE     DLEC1 and MLH1 promoter methylation are associated with poor
            prognosis in non-small cell lung carcinoma
  JOURNAL   Br J Cancer 99 (2), 375-382 (2008)
   PUBMED   18594535
  REMARK    GeneRIF: DLEC1 methylation was an independent marker of poor
            survival in patients with non-small cell lung carcinoma.
REFERENCE   7  (residues 1 to 1778)
  AUTHORS   Qiu GH, Salto-Tellez M, Ross JA, Yeo W, Cui Y, Wheelhouse N, Chen
            GG, Harrison D, Lai P, Tao Q and Hooi SC.
  TITLE     The tumor suppressor gene DLEC1 is frequently silenced by DNA
            methylation in hepatocellular carcinoma and induces G1 arrest in
            cell cycle
  JOURNAL   J Hepatol 48 (3), 433-441 (2008)
   PUBMED   18191269
  REMARK    GeneRIF: DLEC1 is a candidate tumor suppressor gene that plays an
            important role in the development and progression of hepatocellular
            carcinoma.
REFERENCE   8  (residues 1 to 1778)
  AUTHORS   Kwong J, Chow LS, Wong AY, Hung WK, Chung GT, To KF, Chan FL, Daigo
            Y, Nakamura Y, Huang DP and Lo KW.
  TITLE     Epigenetic inactivation of the deleted in lung and esophageal
            cancer 1 gene in nasopharyngeal carcinoma
  JOURNAL   Genes Chromosomes Cancer 46 (2), 171-180 (2007)
   PUBMED   17099870
  REMARK    GeneRIF: Silencing of DLEC1 expression by promoter hypermethylation
            and histone deacetylation may be important in nasopharyngeal
            carcinoma tumorigenesis.
REFERENCE   9  (residues 1 to 1778)
  AUTHORS   Kwong J, Lee JY, Wong KK, Zhou X, Wong DT, Lo KW, Welch WR,
            Berkowitz RS and Mok SC.
  TITLE     Candidate tumor-suppressor gene DLEC1 is frequently downregulated
            by promoter hypermethylation and histone hypoacetylation in human
            epithelial ovarian cancer
  JOURNAL   Neoplasia 8 (4), 268-278 (2006)
   PUBMED   16756719
  REMARK    GeneRIF: DLEC1 suppresses the growth of ovarian cancer cells and
            its downregulation is closely associated with promoter
            hypermethylation and histone hypoacetylation
REFERENCE   10 (residues 1 to 1778)
  AUTHORS   Daigo Y, Nishiwaki T, Kawasoe T, Tamari M, Tsuchiya E and Nakamura
            Y.
  TITLE     Molecular cloning of a candidate tumor suppressor gene, DLC1, from
            chromosome 3p21.3
  JOURNAL   Cancer Res 59 (8), 1966-1972 (1999)
   PUBMED   10213508
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB020522.1, AL137706.1,
            CB243860.1 and AP006309.1.
            On Mar 28, 2006 this sequence version replaced NP_031363.1.
            
            Summary: The cytogenetic location of this gene is 3p21.3, and it is
            located in a region that is commonly deleted in a variety of
            malignancies. Down-regulation of this gene has been observed in
            several human cancers including lung, esophageal, renal tumors, and
            head and neck squamous cell carcinoma. In some cases, reduced
            expression of this gene in tumor cells is a result of aberrant
            promoter methylation. Several alternatively spliced transcripts
            have been observed that contain disrupted coding regions and likely
            encode nonfunctional proteins.[provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (DLEC1-S3) lacks an exon in the 3'
            coding region that results in a frameshift and use of a downstream
            stop codon, compared to variant DLEC1-N1. The encoded isoform
            (DLEC1-S3) has a longer, distinct C-terminus compared to the
            DLEC1-N1 isoform. There are currently no publicly available
            full-length transcripts supporting this variant, but it is
            supported by data in PMID:10213508.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1778
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     Protein         1..1778
                     /product="deleted in lung and esophageal cancer protein 1
                     isoform DLEC1-S3"
                     /note="cilia and flagella associated protein 81; DLEC,
                     cilia and flagella associated protein; deleted in lung and
                     esophageal cancer 1"
                     /calculated_mol_wt=197768
     Region          1..39
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y238.2)"
     Region          610..715
                     /region_name="ASH"
                     /note="Abnormal spindle-like microcephaly-assoc'd,
                     ASPM-SPD-2-Hydin; cl13764"
                     /db_xref="CDD:449188"
     Region          1339..1360
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y238.2)"
     Region          1529..1553
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y238.2)"
     CDS             1..1778
                     /gene="DLEC1"
                     /gene_synonym="CFAP81; DLC-1; DLC1; F56; FAP81"
                     /coded_by="NM_007337.4:19..5355"
                     /note="isoform DLEC1-S3 is encoded by transcript variant
                     DLEC1-S3"
                     /db_xref="GeneID:9940"
                     /db_xref="HGNC:HGNC:2899"
                     /db_xref="MIM:604050"
ORIGIN      
        1 metrssktrr slasrtnecq gtmwaptspp agssspsqpt wksslyssla yseafhysfa
       61 arprrltqla laqrpepqll rlrpsslrtq dishlltgvf rnlysaevig devsaslika
      121 rgsenerhee fvdqlqqire lykqrldefe mlerhitqaq araiaenerv msqagvqdle
      181 slvrlppvks vsrwcidsel lrkhhlispe dyytdtvpfh sapkgislpg cskltfscek
      241 rsvqkkelnk kledscrkkl aefedeldht vdsltwnltp kakertrepl kkasqprnkn
      301 wmnhlrvpqr eldrlllarm esrnhflknp rffppntryg gkslvfppkk papigefqst
      361 epeqscadtp vflakppigf ftdyeigpvy emvialqntt ttsrylrvlp pstpyfalgl
      421 gmfpgkggmv apgmtcqyiv qffpdclgdf ddfilvetqs ahtlliplqa rrpppvltls
      481 pvldcgycli ggvkmtrfic knvgfsvgrf cimpktswpp lsfkaiatvg fveqppfgil
      541 psvfelapgh ailvevlfsp kslgkaeqtf iimcdncqik elvtigigql ialdliyisg
      601 eksqpdpgel tdltaqhfir fepenlrsta rkqliirnat hvelafywqi mkpnlqplmp
      661 getfsmdsik cypdketafs imprkgvlsp htdhefilsf sphelrdfhs vlqmvleevp
      721 epvsseaesl ghssysvddv ivleievkgs vepfqvllep yaliipgeny iginvkkafk
      781 mwnnskspir ylwgkisdch iievepgtgv iepsevgdfe lnftggvpgp tsqdllceie
      841 dspspvvlhi eavfkgpali invsalqfgl lrlgqkatns iqirnvsqlp atwrmkespv
      901 slqerpedvs pfdiepssgq lhslgecrvd itlealhcqh letvleleve ngawsylpvy
      961 aevqkphvyl qssqvevrnl ylgvptktti tlingtllpt qfhwgkllgh qaefcmvtvs
     1021 pkhgllgpse ecqlklelta htqeelthla lpchvsgmkk plvlgisgkp qglqvaitis
     1081 kessdcsteq wpghpkelrl dfgsavplrt rvtrqliltn rspirtrfsl kfeyfgspqn
     1141 slskktslpn mppallktvr mqehlakreq ldfmesmlsh gkgaaffphf sqgmlgpyqq
     1201 lciditgcan mwgeywdnli ctvgdllpev ipvhmaavgc pisslrttsy tidqaqkepa
     1261 mrfgtqvsgg dtvtrtlrln nsspcdirld wetyvpedke drlvellvfy gppfplrdqa
     1321 gnelvcpdtp eggcllwspg pssssefshe tdssvegsss asnrvaqkli svilqahegv
     1381 psghlycisp kqvvvpaggs stiyisftpm vlspeilhkv ectgyalgfm sldskverei
     1441 pgkrhrlqdf avgplkldlh syvrpaqlsv eldyggsmef qcqasdlipe qpcsgvlsel
     1501 vtthhlkltn tteiphyfrl mvsrpfsvsq dgasqdhrap gpgqkqecee etasadkqlv
     1561 lqaqenmlvn vsfslslell syqklpadqt lpgvdiqqsa sgeremvftq nllleytnqt
     1621 tqvvplravv avpelqlsts wvdfgtcfvs qqrvrevylm nlsgcrsywt mlmgvvscts
     1681 prwwwkvcsv rspapcgsga kapmmrdtcc ltspeappqp sapgpswrkn iaqglgaalq
     1741 hkdtdlgtwg plgsswngrt pfhnglslgp hdmsselt
//
LOCUS       NP_149021                123 aa            linear   PRI 31-DEC-2022
DEFINITION  putative keratin-associated protein ENSP00000381495 [Homo sapiens].
ACCESSION   NP_149021 XP_001127069 XP_001714771 XP_935174
VERSION     NP_149021.2
DBSOURCE    REFSEQ: accession NM_033032.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 123)
  AUTHORS   Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR,
            Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen
            NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL,
            Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar
            K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S,
            Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH,
            Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K,
            Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A,
            Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev
            AH, Mudge J, Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz
            DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D,
            Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard
            T, Birren BW, Rogers J, Lander ES and Nusbaum C.
  TITLE     DNA sequence of human chromosome 17 and analysis of rearrangement
            in the human lineage
  JOURNAL   Nature 440 (7087), 1045-1049 (2006)
   PUBMED   16625196
REFERENCE   2  (residues 1 to 123)
  AUTHORS   Rogers MA, Langbein L, Winter H, Ehmann C, Praetzel S, Korn B and
            Schweizer J.
  TITLE     Characterization of a cluster of human high/ultrahigh sulfur
            keratin-associated protein genes embedded in the type I keratin
            gene domain on chromosome 17q12-21
  JOURNAL   J Biol Chem 276 (22), 19440-19451 (2001)
   PUBMED   11279113
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC100808.10.
            On Mar 26, 2009 this sequence version replaced NP_149021.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000398477.1/ ENSP00000381494.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..123
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     Protein         1..123
                     /product="putative keratin-associated protein
                     ENSP00000381495"
                     /note="Keratin-associated protein 2-1; High sulfur
                     keratin-associated protein 2.1; Keratin-associated protein
                     2.1"
                     /calculated_mol_wt=12826
     Region          2..123
                     /region_name="Keratin_B2"
                     /note="Keratin, high sulfur B2 protein; pfam01500"
                     /db_xref="CDD:366678"
     CDS             1..123
                     /gene="KRTAP2-2"
                     /gene_synonym="KAP2.1; KAP2.2; KRTAP2-1; KRTAP2.1A;
                     KRTAP2.1B"
                     /coded_by="NM_033032.3:20..391"
                     /db_xref="CCDS:CCDS54122.1"
                     /db_xref="GeneID:728279"
                     /db_xref="HGNC:HGNC:18905"
ORIGIN      
        1 mtgsccgstf sslsygggcc qpcccrdpcc crpvtcqttv crpvtcvprc trpicepcrr
       61 pvccdpcslq egccrpitcc pssctavvcr pccwattccq pvsvqspcgq ptpcsttcrt
      121 ssc
//
LOCUS       NP_001382405             916 aa            linear   PRI 31-DEC-2022
DEFINITION  pre-mRNA-processing factor 40 homolog A isoform 9 [Homo sapiens].
ACCESSION   NP_001382405
VERSION     NP_001382405.1
DBSOURCE    REFSEQ: accession NM_001395476.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 916)
  AUTHORS   Oleksiewicz U, Liloglou T, Tasopoulou KM, Daskoulidou N, Gosney JR,
            Field JK and Xinarianos G.
  TITLE     COL1A1, PRPF40A, and UCP2 correlate with hypoxia markers in
            non-small cell lung cancer
  JOURNAL   J Cancer Res Clin Oncol 143 (7), 1133-1141 (2017)
   PUBMED   28258342
  REMARK    GeneRIF: our data revealed that COL1A1, UCP2, and PRPF40A are novel
            players implicated in the complex network of hypoxia response in
            non-small cell lung cancer
REFERENCE   2  (residues 1 to 916)
  AUTHORS   Diaz Casas A, Chazin WJ and Pastrana-Rios B.
  TITLE     Prp40 Homolog A Is a Novel Centrin Target
  JOURNAL   Biophys J 112 (12), 2529-2539 (2017)
   PUBMED   28636910
  REMARK    GeneRIF: Multidisciplinary approach showed that HsPrp40Ap interacts
            with centrin in vitro, supporting a coupled functional role for
            these proteins in pre-mRNA splicing.
REFERENCE   3  (residues 1 to 916)
  AUTHORS   Crisci A, Raleff F, Bagdiul I, Raabe M, Urlaub H, Rain JC and
            Kramer A.
  TITLE     Mammalian splicing factor SF1 interacts with SURP domains of U2
            snRNP-associated proteins
  JOURNAL   Nucleic Acids Res 43 (21), 10456-10473 (2015)
   PUBMED   26420826
REFERENCE   4  (residues 1 to 916)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   5  (residues 1 to 916)
  AUTHORS   Zhao L, Cao Z and Wang J.
  TITLE     The effect of C-terminal helix on the stability of FF domain
            studied by molecular dynamics simulation
  JOURNAL   Int J Mol Sci 13 (2), 1720-1732 (2012)
   PUBMED   22408419
  REMARK    GeneRIF: Study of native domain FF3-71 from human HYPA/FBP11 and
            the truncated version FF3-60 with C-terminal helix being deleted by
            molecular dynamics simulations.
REFERENCE   6  (residues 1 to 916)
  AUTHORS   Allen M, Friedler A, Schon O and Bycroft M.
  TITLE     The structure of an FF domain from human HYPA/FBP11
  JOURNAL   J Mol Biol 323 (3), 411-416 (2002)
   PUBMED   12381297
  REMARK    GeneRIF: Data describe the structure of an FF domain from
            HYPA/FBP11, which differs from those of other
            phosphopeptide-binding domains and represents a novel
            phosphopeptide-binding fold.
REFERENCE   7  (residues 1 to 916)
  AUTHORS   Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH,
            Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT and Old
            LJ.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
REFERENCE   8  (residues 1 to 916)
  AUTHORS   Bedford MT, Reed R and Leder P.
  TITLE     WW domain-mediated interactions reveal a spliceosome-associated
            protein that binds a third class of proline-rich motif: the proline
            glycine and methionine-rich motif
  JOURNAL   Proc Natl Acad Sci U S A 95 (18), 10602-10607 (1998)
   PUBMED   9724750
REFERENCE   9  (residues 1 to 916)
  AUTHORS   Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF and MacDonald
            ME.
  TITLE     Huntingtin interacts with a family of WW domain proteins
  JOURNAL   Hum Mol Genet 7 (9), 1463-1474 (1998)
   PUBMED   9700202
REFERENCE   10 (residues 1 to 916)
  AUTHORS   Chan DC, Bedford MT and Leder P.
  TITLE     Formin binding proteins bear WWP/WW domains that bind proline-rich
            peptides and functionally resemble SH3 domains
  JOURNAL   EMBO J 15 (5), 1045-1054 (1996)
   PUBMED   8605874
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC079344.5 and AC012443.8.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..916
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q23.3"
     Protein         1..916
                     /product="pre-mRNA-processing factor 40 homolog A isoform
                     9"
                     /note="formin binding protein 3; Huntingtin-interacting
                     protein A; NY-REN-6 antigen; Fas-ligand associated factor
                     1; formin-binding protein 11; huntingtin yeast partner A;
                     fas ligand-associated factor 1; renal carcinoma antigen
                     NY-REN-6; huntingtin-interacting protein 10; PRP40
                     pre-mRNA processing factor 40 homolog A"
                     /calculated_mol_wt=104345
     Region          110..755
                     /region_name="PRP40"
                     /note="Splicing factor [RNA processing and modification];
                     COG5104"
                     /db_xref="CDD:227435"
     CDS             1..916
                     /gene="PRPF40A"
                     /gene_synonym="FBP-11; FBP11; FLAF1; FNBP3; HIP-10; HIP10;
                     HYPA; NY-REN-6; Prp40"
                     /coded_by="NM_001395476.1:376..3126"
                     /note="isoform 9 is encoded by transcript variant 17"
                     /db_xref="GeneID:55660"
                     /db_xref="HGNC:HGNC:16463"
                     /db_xref="MIM:612941"
ORIGIN      
        1 mcsgsgrrrs slsptmrpgt gaergglmmg hpgmhyapmg mhpmgqranm ppvphgmmpq
       61 mmppmggppm gqmpgmmssv mpgmmmshms qasmqpalpp gvnsmdvaag tasgaksmwt
      121 ehkspdgrty yyntetkqst wekpddlktp aeqllskcpw keyksdsgkp yyynsqtkes
      181 rwakpkeled leamikaees skqeecttts tapvptteip ttmstmaaae aaaavvaaaa
      241 aaaaaaaaan anastsasnt vsgtvpvvpe pevtsivatv vdnentvtis teeqaqltst
      301 paiqdqsvev ssntgeetsk qetvadftpk keeeesqpak ktytwntkee akqafkellk
      361 ekrvpsnasw eqamkmiind prysalakls ekkqafnayk vqtekeekee arskykeake
      421 sfqrflenhe kmtsttrykk aeqmfgemev wnaiserdrl eiyedvlffl skkekeqakq
      481 lrkrnwealk nildnmanvt ysttwseaqq ylmdnptfae deelqnmdke dalicfeehi
      541 ralekeeeee kqksllrerr rqrknresfq ifldelhehg qlhsmsswme lyptissdir
      601 ftnmlgqpvf slgstaldlf kfyvedlkar yhdekkiikd ilkdkgfvve vnttfedfva
      661 iisstkrstt ldagniklaf nsllekaear ererekeear kmkrkesafk smlkqaappi
      721 eldavwedir erfvkepafe ditleserkr ifkdfmhvle hecqhhhskn kkhskkskkh
      781 hrkrsrsrsg sdsddddshs kkkrqrsesr sasehsssae sersykkskk hkkkskkrrh
      841 ksdspesdae rekdkkekdr esekdrtrqr seskhkspkk ktgkdsgnwd tsgselsege
      901 lekrrrtlle qldddq
//
LOCUS       NP_001375190             625 aa            linear   PRI 31-DEC-2022
DEFINITION  rap1 GTPase-activating protein 1 isoform 8 [Homo sapiens].
ACCESSION   NP_001375190
VERSION     NP_001375190.1
DBSOURCE    REFSEQ: accession NM_001388261.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 625)
  AUTHORS   Faam B, Ghadiri AA, Ghaffari MA, Totonchi M, Amouzegar A, Azizi F,
            Shahbazian H, Hashemitabar M, Fanaei SA and Khorsandi L.
  TITLE     CpG Island Methylation of the Rap1Gap Gene in Medullary Thyroid
            Cancer
  JOURNAL   Arch Iran Med 25 (3), 171-177 (2022)
   PUBMED   35429959
  REMARK    GeneRIF: CpG Island Methylation of the Rap1Gap Gene in Medullary
            Thyroid Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 625)
  AUTHORS   Shi S, Li J, Li E, Guo W, He Y, Wang J, Zhang Y, Yue L and Wei L.
  TITLE     Simulated Microgravity Increases the Permeability of HUVEC
            Monolayer through Up-Regulation of Rap1GAP and Decreased Rap2
            Activation
  JOURNAL   Int J Mol Sci 23 (2), 630 (2022)
   PUBMED   35054818
  REMARK    GeneRIF: Simulated Microgravity Increases the Permeability of HUVEC
            Monolayer through Up-Regulation of Rap1GAP and Decreased Rap2
            Activation.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 625)
  AUTHORS   Yan Z, Yangyanqiu W, Shuwen H, Jing M, Haihong L, Gong C, Yin J,
            Qing Z and Weili G.
  TITLE     Downregulation of Rap1GAP Expression Activates the TGF-beta/Smad3
            Pathway to Inhibit the Expression of Sodium/Iodine Transporter in
            Papillary Thyroid Carcinoma Cells
  JOURNAL   Biomed Res Int 2021, 6840642 (2021)
   PUBMED   34840979
  REMARK    GeneRIF: Downregulation of Rap1GAP Expression Activates the
            TGF-beta/Smad3 Pathway to Inhibit the Expression of Sodium/Iodine
            Transporter in Papillary Thyroid Carcinoma Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 625)
  AUTHORS   Faam B, Ghaffari MA, Khorsandi L, Ghadiri AA, Totonchi M, Amouzegar
            A, Fanaei SA, Azizi F, Shahbazian HB and Hashemi Tabar M.
  TITLE     RAP1GAP Functions as a Tumor Suppressor Gene and Is Regulated by
            DNA Methylation in Differentiated Thyroid Cancer
  JOURNAL   Cytogenet Genome Res 161 (5), 227-235 (2021)
   PUBMED   34311462
  REMARK    GeneRIF: RAP1GAP Functions as a Tumor Suppressor Gene and Is
            Regulated by DNA Methylation in Differentiated Thyroid Cancer.
REFERENCE   5  (residues 1 to 625)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (residues 1 to 625)
  AUTHORS   Kurachi H, Wada Y, Tsukamoto N, Maeda M, Kubota H, Hattori M, Iwai
            K and Minato N.
  TITLE     Human SPA-1 gene product selectively expressed in lymphoid tissues
            is a specific GTPase-activating protein for Rap1 and Rap2.
            Segregate expression profiles from a rap1GAP gene product
  JOURNAL   J Biol Chem 272 (44), 28081-28088 (1997)
   PUBMED   9346962
REFERENCE   7  (residues 1 to 625)
  AUTHORS   Peterson SN, Trabalzini L, Brtva TR, Fischer T, Altschuler DL,
            Martelli P, Lapetina EG, Der CJ and White GC 2nd.
  TITLE     Identification of a novel RalGDS-related protein as a candidate
            effector for Ras and Rap1
  JOURNAL   J Biol Chem 271 (47), 29903-29908 (1996)
   PUBMED   8939933
REFERENCE   8  (residues 1 to 625)
  AUTHORS   Weiss J, Rubinfeld B, Polakis PG, McCormick F, Cavenee WK and Arden
            KC.
  TITLE     The RAP1GA1 locus for human Rap1-GTPase activating protein 1 maps
            to chromosome 1p36.1-->p35
  JOURNAL   Cytogenet Cell Genet 66 (1), 18-21 (1994)
   PUBMED   8275700
REFERENCE   9  (residues 1 to 625)
  AUTHORS   Rubinfeld B, Crosier WJ, Albert I, Conroy L, Clark R, McCormick F
            and Polakis P.
  TITLE     Localization of the rap1GAP catalytic domain and sites of
            phosphorylation by mutational analysis
  JOURNAL   Mol Cell Biol 12 (10), 4634-4642 (1992)
   PUBMED   1406653
REFERENCE   10 (residues 1 to 625)
  AUTHORS   Rubinfeld B, Munemitsu S, Clark R, Conroy L, Watt K, Crosier WJ,
            McCormick F and Polakis P.
  TITLE     Molecular cloning of a GTPase activating protein specific for the
            Krev-1 protein p21rap1
  JOURNAL   Cell 65 (6), 1033-1042 (1991)
   PUBMED   1904317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359815.26.
            
            Summary: This gene encodes a type of GTPase-activating-protein
            (GAP) that down-regulates the activity of the ras-related RAP1
            protein. RAP1 acts as a molecular switch by cycling between an
            inactive GDP-bound form and an active GTP-bound form. The product
            of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and
            hence returns RAP1 to the inactive state whereas other proteins,
            guanine nucleotide exchange factors (GEFs), act as RAP1 activators
            by facilitating the conversion of RAP1 from the GDP- to the
            GTP-bound form. In general, ras subfamily proteins, such as RAP1,
            play key roles in receptor-linked signaling pathways that control
            cell growth and differentiation. RAP1 plays a role in diverse
            processes such as cell proliferation, adhesion, differentiation,
            and embryogenesis. Alternative splicing results in multiple
            transcript variants encoding distinct proteins. [provided by
            RefSeq, Aug 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.3376693.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146411 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..625
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     Protein         1..625
                     /product="rap1 GTPase-activating protein 1 isoform 8"
                     /note="rap1 GTPase-activating protein 1"
                     /calculated_mol_wt=69209
     Region          <1..17
                     /region_name="GoLoco"
                     /note="GoLoco motif; pfam02188"
                     /db_xref="CDD:426645"
     Region          211..390
                     /region_name="Rap_GAP"
                     /note="Rap/ran-GAP; pfam02145"
                     /db_xref="CDD:426620"
     CDS             1..625
                     /gene="RAP1GAP"
                     /gene_synonym="RAP1GA1; RAP1GAP1; RAP1GAPII; RAPGAP"
                     /coded_by="NM_001388261.1:217..2094"
                     /note="isoform 8 is encoded by transcript variant 70"
                     /db_xref="GeneID:5909"
                     /db_xref="HGNC:HGNC:9858"
                     /db_xref="MIM:600278"
ORIGIN      
        1 miekmqgsrm deqrcsfppp lkteedyipy psvhevlgre gpfplillpq fggywiegtn
       61 heitsipete plqspttkvk lecnptariy rkhflgkehf nyysldaalg hlvfslkydv
      121 igdqehlrll lrtkcrtyhd vipiscltef pnvvqmaklv cedvnvdrfy pvlypkasrl
      181 ivtfdehvis nnfkfgviyq klgqtseeel fstneespaf vefleflgqk vklqdfkgfr
      241 ggldvthgqt gtesvycnfr nkeimfhvst klpytegdaq qlqrkrhign divavvfqde
      301 ntpfvpdmia snflhayvvv qaegggpdgp lykvsvtard dvpffgpplp dpavfrkgpe
      361 fqeflltkli naeyacykae kfakleertr aalletlyee lhihsqsmmg lggdedkmen
      421 gsggggffes fkrvirsrsq smdamglsnk kpntvstshs gsfapnnpdl akaagisliv
      481 pgksptrkks gpfgsrrssa igieniqevq ekraetaaqr aealkdfsrs sssassfasv
      541 veetegvdge dtglesvsss gtphkrdsfi ystwledsvs ttsggsspgp srsphpdagk
      601 lgdpacpeik iqleaseqhm pqlgc
//
LOCUS       NP_001381163              92 aa            linear   PRI 31-DEC-2022
DEFINITION  protein S100-A5 [Homo sapiens].
ACCESSION   NP_001381163
VERSION     NP_001381163.1
DBSOURCE    REFSEQ: accession NM_001394234.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 92)
  AUTHORS   Wheeler LC and Harms MJ.
  TITLE     Were Ancestral Proteins Less Specific?
  JOURNAL   Mol Biol Evol 38 (6), 2227-2239 (2021)
   PUBMED   33528559
  REMARK    GeneRIF: Were Ancestral Proteins Less Specific?
REFERENCE   2  (residues 1 to 92)
  AUTHORS   Simon MA, Ecsedi P, Kovacs GM, Poti AL, Remenyi A, Kardos J, Gogl G
            and Nyitray L.
  TITLE     High-throughput competitive fluorescence polarization assay reveals
            functional redundancy in the S100 protein family
  JOURNAL   FEBS J 287 (13), 2834-2846 (2020)
   PUBMED   31837246
REFERENCE   3  (residues 1 to 92)
  AUTHORS   Wheeler LC, Anderson JA, Morrison AJ, Wong CE and Harms MJ.
  TITLE     Conservation of Specificity in Two Low-Specificity Proteins
  JOURNAL   Biochemistry 57 (5), 684-695 (2018)
   PUBMED   29240404
  REMARK    GeneRIF: Isothermal titration calorimetry measured the binding of
            peptides with diverse sequence and biochemistry to human S100A5 and
            S110A6. These proteins bound distinct, but overlapping, sets of
            peptide targets.  A single historical mutation, when reverted in
            human S100A5, gave it the ability to bind an S100A6-specific
            peptide. The specificity of S100 peptide interfaces is likely
            important for the biology of these proteins.
REFERENCE   4  (residues 1 to 92)
  AUTHORS   Kim I, Lee KO, Yun YJ, Jeong JY, Kim EH, Cheong H, Ryu KS, Kim NK
            and Suh JY.
  TITLE     Biophysical characterization of Ca2+-binding of S100A5 and
            Ca2+-induced interaction with RAGE
  JOURNAL   Biochem Biophys Res Commun 483 (1), 332-338 (2017)
   PUBMED   28017722
  REMARK    GeneRIF: S100A5 employs the periphery of the dimer interface to
            interact with RAGE-v
REFERENCE   5  (residues 1 to 92)
  AUTHORS   Bertini I, Das Gupta S, Hu X, Karavelas T, Luchinat C, Parigi G and
            Yuan J.
  TITLE     Solution structure and dynamics of S100A5 in the apo and Ca2+-bound
            states
  JOURNAL   J Biol Inorg Chem 14 (7), 1097-1107 (2009)
   PUBMED   19536568
  REMARK    GeneRIF: Homodimeric solution structures of S100A5 in both apo &
            Ca(II)-loaded forms were obtained & show conformational
            rearrangement on Ca binding. Also, large mobility was observed in
            hinge loop of apo-S100A5; this mobility was not quenched in Ca
            form.
REFERENCE   6  (residues 1 to 92)
  AUTHORS   Schafer BW, Fritschy JM, Murmann P, Troxler H, Durussel I, Heizmann
            CW and Cox JA.
  TITLE     Brain S100A5 is a novel calcium-, zinc-, and copper ion-binding
            protein of the EF-hand superfamily
  JOURNAL   J Biol Chem 275 (39), 30623-30630 (2000)
   PUBMED   10882717
REFERENCE   7  (residues 1 to 92)
  AUTHORS   Ridinger K, Ilg EC, Niggli FK, Heizmann CW and Schafer BW.
  TITLE     Clustered organization of S100 genes in human and mouse
  JOURNAL   Biochim Biophys Acta 1448 (2), 254-263 (1998)
   PUBMED   9920416
REFERENCE   8  (residues 1 to 92)
  AUTHORS   Schafer BW and Heizmann CW.
  TITLE     The S100 family of EF-hand calcium-binding proteins: functions and
            pathology
  JOURNAL   Trends Biochem Sci 21 (4), 134-140 (1996)
   PUBMED   8701470
  REMARK    Review article
REFERENCE   9  (residues 1 to 92)
  AUTHORS   Schafer BW, Wicki R, Engelkamp D, Mattei MG and Heizmann CW.
  TITLE     Isolation of a YAC clone covering a cluster of nine S100 genes on
            human chromosome 1q21: rationale for a new nomenclature of the S100
            calcium-binding protein family
  JOURNAL   Genomics 25 (3), 638-643 (1995)
   PUBMED   7759097
REFERENCE   10 (residues 1 to 92)
  AUTHORS   Engelkamp D, Schafer BW, Mattei MG, Erne P and Heizmann CW.
  TITLE     Six S100 genes are clustered on human chromosome 1q21:
            identification of two genes coding for the two previously
            unreported calcium-binding proteins S100D and S100E
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6547-6551 (1993)
   PUBMED   8341667
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX470102.12.
            
            Summary: The protein encoded by this gene is a member of the S100
            family of proteins containing 2 EF-hand calcium-binding motifs.
            S100 proteins are localized in the cytoplasm and/or nucleus of a
            wide range of cells, and involved in the regulation of a number of
            cellular processes such as cell cycle progression and
            differentiation. S100 genes include at least 13 members which are
            located as a cluster on chromosome 1q21. This protein has a Ca2+
            affinity 20- to 100-fold higher than the other S100 proteins
            studied under identical conditions. This protein also binds Zn2+
            and Cu2+, and Cu2+ strongly which impairs the binding of Ca2+. This
            protein is expressed in very restricted regions of the adult brain.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..92
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     Protein         1..92
                     /product="protein S100-A5"
                     /calculated_mol_wt=10613
     Region          3..87
                     /region_name="S-100"
                     /note="S-100 domain, which represents the largest family
                     within the superfamily of proteins carrying the Ca-binding
                     EF-hand motif. Note that this S-100 hierarchy contains
                     only S-100 EF-hand domains, other EF-hands have been
                     modeled separately. S100 proteins are...; cd00213"
                     /db_xref="CDD:238131"
     Site            order(3..20,26..28,37..38,40..42,67..70,72..73,75..78,
                     80..87)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238131"
     Site            order(20,25,28,33..34,60,62,64,66,68,71)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238131"
     CDS             1..92
                     /gene="S100A5"
                     /gene_synonym="S100D"
                     /coded_by="NM_001394234.1:440..718"
                     /db_xref="CCDS:CCDS1041.2"
                     /db_xref="GeneID:6276"
                     /db_xref="HGNC:HGNC:10495"
                     /db_xref="MIM:176991"
ORIGIN      
        1 metplekalt tmvttfhkys gregskltls rkelkelikk elclgemkes siddlmksld
       61 knsdqeidfk eysvfltmlc mayndffled nk
//
LOCUS       NP_001387210             189 aa            linear   PRI 31-DEC-2022
DEFINITION  ADP-ribosylation factor-like protein 6-interacting protein 4
            isoform 4 [Homo sapiens].
ACCESSION   NP_001387210
VERSION     NP_001387210.1
DBSOURCE    REFSEQ: accession NM_001400281.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 189)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   2  (residues 1 to 189)
  AUTHORS   Grossmann A, Benlasfer N, Birth P, Hegele A, Wachsmuth F, Apelt L
            and Stelzl U.
  TITLE     Phospho-tyrosine dependent protein-protein interaction network
  JOURNAL   Mol Syst Biol 11 (3), 794 (2015)
   PUBMED   25814554
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 189)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   4  (residues 1 to 189)
  AUTHORS   Ripke S, O'Dushlaine C, Chambert K, Moran JL, Kahler AK, Akterin S,
            Bergen SE, Collins AL, Crowley JJ, Fromer M, Kim Y, Lee SH,
            Magnusson PK, Sanchez N, Stahl EA, Williams S, Wray NR, Xia K,
            Bettella F, Borglum AD, Bulik-Sullivan BK, Cormican P, Craddock N,
            de Leeuw C, Durmishi N, Gill M, Golimbet V, Hamshere ML, Holmans P,
            Hougaard DM, Kendler KS, Lin K, Morris DW, Mors O, Mortensen PB,
            Neale BM, O'Neill FA, Owen MJ, Milovancevic MP, Posthuma D, Powell
            J, Richards AL, Riley BP, Ruderfer D, Rujescu D, Sigurdsson E,
            Silagadze T, Smit AB, Stefansson H, Steinberg S, Suvisaari J,
            Tosato S, Verhage M, Walters JT, Levinson DF, Gejman PV, Kendler
            KS, Laurent C, Mowry BJ, O'Donovan MC, Owen MJ, Pulver AE, Riley
            BP, Schwab SG, Wildenauer DB, Dudbridge F, Holmans P, Shi J, Albus
            M, Alexander M, Campion D, Cohen D, Dikeos D, Duan J, Eichhammer P,
            Godard S, Hansen M, Lerer FB, Liang KY, Maier W, Mallet J, Nertney
            DA, Nestadt G, Norton N, O'Neill FA, Papadimitriou GN, Ribble R,
            Sanders AR, Silverman JM, Walsh D, Williams NM, Wormley B, Arranz
            MJ, Bakker S, Bender S, Bramon E, Collier D, Crespo-Facorro B, Hall
            J, Iyegbe C, Jablensky A, Kahn RS, Kalaydjieva L, Lawrie S, Lewis
            CM, Lin K, Linszen DH, Mata I, McIntosh A, Murray RM, Ophoff RA,
            Powell J, Rujescu D, Van Os J, Walshe M, Weisbrod M, Wiersma D,
            Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP,
            Corvin AP, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew
            CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC,
            Viswanathan AC, Wood NW, Spencer CC, Band G, Bellenguez C, Freeman
            C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson RD, Strange A,
            Su Z, Vukcevic D, Donnelly P, Langford C, Hunt SE, Edkins S,
            Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E,
            Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC,
            Ravindrarajah R, Ricketts M, Tashakkori-Ghanbaria A, Waller MJ,
            Weston P, Widaa S, Whittaker P, Barroso I, Deloukas P, Mathew CG,
            Blackwell JM, Brown MA, Corvin AP, McCarthy MI, Spencer CC, Bramon
            E, Corvin AP, O'Donovan MC, Stefansson K, Scolnick E, Purcell S,
            McCarroll SA, Sklar P, Hultman CM and Sullivan PF.
  CONSRTM   Multicenter Genetic Studies of Schizophrenia Consortium; Psychosis
            Endophenotypes International Consortium; Wellcome Trust Case
            Control Consortium 2
  TITLE     Genome-wide association analysis identifies 13 new risk loci for
            schizophrenia
  JOURNAL   Nat Genet 45 (10), 1150-1159 (2013)
   PUBMED   23974872
REFERENCE   5  (residues 1 to 189)
  AUTHORS   Varjosalo M, Keskitalo S, Van Drogen A, Nurkkala H, Vichalkovski A,
            Aebersold R and Gstaiger M.
  TITLE     The protein interaction landscape of the human CMGC kinase group
  JOURNAL   Cell Rep 3 (4), 1306-1320 (2013)
   PUBMED   23602568
REFERENCE   6  (residues 1 to 189)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   7  (residues 1 to 189)
  AUTHORS   Fenner BJ, Scannell M and Prehn JH.
  TITLE     Expanding the substantial interactome of NEMO using protein
            microarrays
  JOURNAL   PLoS One 5 (1), e8799 (2010)
   PUBMED   20098747
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 189)
  AUTHORS   Wistow G, Bernstein SL, Ray S, Wyatt MK, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human iris for the NEIBank
            Project: steroid-response factors and similarities with retinal
            pigment epithelium
  JOURNAL   Mol Vis 8, 185-195 (2002)
   PUBMED   12107412
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 189)
  AUTHORS   Li Q, Zhao H, Jiang L, Che Y, Dong C, Wang L, Wang J and Liu L.
  TITLE     An SR-protein induced by HSVI binding to cells functioning as a
            splicing inhibitor of viral pre-mRNA
  JOURNAL   J Mol Biol 316 (4), 887-894 (2002)
   PUBMED   11884129
REFERENCE   10 (residues 1 to 189)
  AUTHORS   Sasahara K, Yamaoka T, Moritani M, Tanaka M, Iwahana H, Yoshimoto
            K, Miyagawa J, Kuroda Y and Itakura M.
  TITLE     Molecular cloning and expression analysis of a putative nuclear
            protein, SR-25
  JOURNAL   Biochem Biophys Res Commun 269 (2), 444-450 (2000)
   PUBMED   10708573
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC026362.38.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.4163782.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152719, SAMEA2154529
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..189
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     Protein         1..189
                     /product="ADP-ribosylation factor-like protein
                     6-interacting protein 4 isoform 4"
                     /note="SRp25 nuclear protein; splicing factor,
                     arginine/serine-rich 20; HSVI binding protein;
                     ADP-ribosylation factor-like protein 6-interacting protein
                     4; splicing regulator SRrp38; SR-15; aip-4; HSP-975;
                     ARL-6-interacting protein 4; ADP-ribosylation-like factor
                     6 interacting protein 4; splicing factor SRrp37;
                     ADP-ribosylation factor-like 6 interacting protein 4;
                     ADP-ribosylation factor GTPase 6 interacting protein 4"
                     /calculated_mol_wt=20784
     Region          <130..187
                     /region_name="SR-25"
                     /note="Nuclear RNA-splicing-associated protein; pfam10500"
                     /db_xref="CDD:431320"
     CDS             1..189
                     /gene="ARL6IP4"
                     /gene_synonym="SFRS20; SR-25; SRp25; SRrp37"
                     /coded_by="NM_001400281.1:165..734"
                     /note="isoform 4 is encoded by transcript variant 9"
                     /db_xref="GeneID:51329"
                     /db_xref="HGNC:HGNC:18076"
                     /db_xref="MIM:607668"
ORIGIN      
        1 mahvgsrkrs rsrsrsrgrg sekrkkksrk dtsrncsast sqgrkastap gaeaspspci
       61 terskqkarr rtrsssssss ssssssssss ssssssssdg rkkrgkykdk rrkkkkkrkk
      121 lkkkgkekae aqqsiirkvv dpetgrtrli kgdgevleei vtkerhrein kqatrgdcla
      181 fqmragllp
//
LOCUS       NP_001289052             106 aa            linear   PRI 01-JAN-2023
DEFINITION  C-X-C motif chemokine 11 isoform 2 precursor [Homo sapiens].
ACCESSION   NP_001289052
VERSION     NP_001289052.1
DBSOURCE    REFSEQ: accession NM_001302123.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 106)
  AUTHORS   Koch C, Fischer NC, Puchert M and Engele J.
  TITLE     Interactions of the chemokines CXCL11 and CXCL12 in human tumor
            cells
  JOURNAL   BMC Cancer 22 (1), 1335 (2022)
   PUBMED   36539774
  REMARK    GeneRIF: Interactions of the chemokines CXCL11 and CXCL12 in human
            tumor cells.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 106)
  AUTHORS   Luttrell LM.
  TITLE     Reviews in molecular biology and biotechnology: transmembrane
            signaling by G protein-coupled receptors
  JOURNAL   Mol Biotechnol 39 (3), 239-264 (2008)
   PUBMED   18240029
  REMARK    Review article
REFERENCE   3  (residues 1 to 106)
  AUTHORS   Kouroumalis A, Nibbs RJ, Aptel H, Wright KL, Kolios G and Ward SG.
  TITLE     The chemokines CXCL9, CXCL10, and CXCL11 differentially stimulate G
            alpha i-independent signaling and actin responses in human
            intestinal myofibroblasts
  JOURNAL   J Immunol 175 (8), 5403-5411 (2005)
   PUBMED   16210647
  REMARK    GeneRIF: This CSCR3 ligand has the ability to activate biochemical
            (e.g., PtdIns and MAP kinase activation) and functional events
            (actin reorganization) in intestinal myofibroblasts.
REFERENCE   4  (residues 1 to 106)
  AUTHORS   Booth V, Clark-Lewis I and Sykes BD.
  TITLE     NMR structure of CXCR3 binding chemokine CXCL11 (ITAC)
  JOURNAL   Protein Sci 13 (8), 2022-2028 (2004)
   PUBMED   15273303
REFERENCE   5  (residues 1 to 106)
  AUTHORS   Colvin RA, Campanella GS, Sun J and Luster AD.
  TITLE     Intracellular domains of CXCR3 that mediate CXCL9, CXCL10, and
            CXCL11 function
  JOURNAL   J Biol Chem 279 (29), 30219-30227 (2004)
   PUBMED   15150261
  REMARK    GeneRIF: CXCL9, CXCL10, and CXCL11 functions are mediated by
            intracellular domains of CXCR3
REFERENCE   6  (residues 1 to 106)
  AUTHORS   Yang D, Chen Q, Hoover DM, Staley P, Tucker KD, Lubkowski J and
            Oppenheim JJ.
  TITLE     Many chemokines including CCL20/MIP-3alpha display antimicrobial
            activity
  JOURNAL   J Leukoc Biol 74 (3), 448-455 (2003)
   PUBMED   12949249
  REMARK    GeneRIF: CXCL11 displays antimicrobial activity against E. coli and
            S. aureus.
REFERENCE   7  (residues 1 to 106)
  AUTHORS   Xanthou G, Duchesnes CE, Williams TJ and Pease JE.
  TITLE     CCR3 functional responses are regulated by both CXCR3 and its
            ligands CXCL9, CXCL10 and CXCL11
  JOURNAL   Eur J Immunol 33 (8), 2241-2250 (2003)
   PUBMED   12884299
  REMARK    GeneRIF: CXCR3 ligands inhibit CCR3-mediated functional responses
            of both human eosinophils and CCR3 transfectants induced by all
            three eotaxins, with CXCL11 being the most efficacious antagonist.
REFERENCE   8  (residues 1 to 106)
  AUTHORS   Basu S, Schaefer TM, Ghosh M, Fuller CL and Reinhart TA.
  TITLE     Molecular cloning and sequencing of 25 different rhesus macaque
            chemokine cDNAs reveals evolutionary conservation among C, CC, CXC,
            AND CX3C families of chemokines
  JOURNAL   Cytokine 18 (3), 140-148 (2002)
   PUBMED   12126650
REFERENCE   9  (residues 1 to 106)
  AUTHORS   Tensen CP, Flier J, Rampersad SS, Sampat-Sardjoepersad S, Scheper
            RJ, Boorsma DM and Willemze R.
  TITLE     Genomic organization, sequence and transcriptional regulation of
            the human CXCL 11(1) gene
  JOURNAL   Biochim Biophys Acta 1446 (1-2), 167-172 (1999)
   PUBMED   10395932
REFERENCE   10 (residues 1 to 106)
  AUTHORS   Erdel M, Laich A, Utermann G, Werner ER and Werner-Felmayer G.
  TITLE     The human gene encoding SCYB9B, a putative novel CXC chemokine,
            maps to human chromosome 4q21 like the closely related genes for
            MIG (SCYB9) and INP10 (SCYB10)
  JOURNAL   Cytogenet Cell Genet 81 (3-4), 271-272 (1998)
   PUBMED   9730616
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP289021.1, AL703031.1 and
            U66096.1.
            
            Summary: Chemokines are a group of small (approximately 8 to 14
            kD), mostly basic, structurally related molecules that regulate
            cell trafficking of various types of leukocytes through
            interactions with a subset of 7-transmembrane, G protein-coupled
            receptors. Chemokines also play fundamental roles in the
            development, homeostasis, and function of the immune system, and
            they have effects on cells of the central nervous system as well as
            on endothelial cells involved in angiogenesis or angiostasis.
            Chemokines are divided into 2 major subfamilies, CXC and CC. This
            antimicrobial gene is a CXC member of the chemokine superfamily.
            Its encoded protein induces a chemotactic response in activated
            T-cells and is the dominant ligand for CXC receptor-3. The gene
            encoding this protein contains 4 exons and at least three
            polyadenylation signals which might reflect cell-specific
            regulation of expression. IFN-gamma is a potent inducer of
            transcription of this gene. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2014].
            
            Transcript Variant: This variant (2) uses an alternate splice
            junction in the 3' coding region compared to variant 1, that causes
            a frameshift. The resulting isoform (2) has a longer and distinct
            C-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL703031.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..106
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.1"
     Protein         1..106
                     /product="C-X-C motif chemokine 11 isoform 2 precursor"
                     /note="small inducible cytokine subfamily B (Cys-X-Cys),
                     member 11; chemokine (C-X-C motif) ligand 11; small
                     inducible cytokine subfamily B (Cys-X-Cys), member 9B;
                     C-X-C motif chemokine 11; small inducible cytokine B11;
                     beta-R1; interferon gamma-inducible protein 9;
                     interferon-inducible T-cell alpha chemoattractant"
                     /calculated_mol_wt=9739
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2076
     mat_peptide     22..106
                     /product="C-X-C motif chemokine 11 isoform 2"
                     /calculated_mol_wt=9739
     Region          28..87
                     /region_name="Chemokine_CXC"
                     /note="1 of 4 subgroup designations based on the
                     arrangement of the two N-terminal cysteine residues;
                     includes a number of secreted growth factors and
                     interferons involved in mitogenic, chemotactic, and
                     inflammatory activity; many members contain an RCxC
                     motif...; cd00273"
                     /db_xref="CDD:238171"
     Site            order(28,31,45..46,49..51,61..64,66,71..72,75,82,86)
                     /site_type="other"
                     /note="tetramer interface [polypeptide binding]"
                     /db_xref="CDD:238171"
     Site            order(28..29,35,40..45,54..56,66..67,71..73,79,84)
                     /site_type="active"
                     /note="receptor binding site [active]"
                     /db_xref="CDD:238171"
     Site            order(28,31,49,51,61,63,66,71..72)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:238171"
     Site            order(29..30,32)
                     /site_type="active"
                     /note="RCXC motif [active]"
                     /db_xref="CDD:238171"
     Site            order(31..37,40..45)
                     /site_type="active"
                     /note="N-loop [active]"
                     /db_xref="CDD:238171"
     Site            order(33..34,36,40,44,63,66,71,73)
                     /site_type="active"
                     /note="receptor binding cleft [active]"
                     /db_xref="CDD:238171"
     Site            order(41,43,78,81,83..86)
                     /site_type="other"
                     /note="glycosaminoglycan (GAG) binding site [chemical
                     binding]"
                     /db_xref="CDD:238171"
     Site            order(43,46,65,67,71..72)
                     /site_type="other"
                     /note="putative glycosaminoglycan (GAG) binding site
                     [chemical binding]"
                     /db_xref="CDD:238171"
     Site            order(45..46,50,62,64,75,82,86)
                     /site_type="other"
                     /note="dimer interface (I form) [polypeptide binding]"
                     /db_xref="CDD:238171"
     Site            54..56
                     /site_type="other"
                     /note="30s-loop"
                     /db_xref="CDD:238171"
     Site            54..56
                     /site_type="other"
                     /note="GPH motif"
                     /db_xref="CDD:238171"
     Site            order(67,69..70)
                     /site_type="other"
                     /note="40s-loop"
                     /db_xref="CDD:238171"
     CDS             1..106
                     /gene="CXCL11"
                     /gene_synonym="b-R1; H174; I-TAC; IP-9; IP9; SCYB11;
                     SCYB9B"
                     /coded_by="NM_001302123.2:84..404"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="GeneID:6373"
                     /db_xref="HGNC:HGNC:10638"
                     /db_xref="MIM:604852"
ORIGIN      
        1 msvkgmaial avilcatvvq gfpmfkrgrc lcigpgvkav kvadiekasi mypsnncdki
       61 eviitlkenk gqrclnpksk qarliiklke rifkniktye vleksi
//
LOCUS       NP_001243538             325 aa            linear   PRI 03-FEB-2023
DEFINITION  glycosylated lysosomal membrane protein isoform 5 [Homo sapiens].
ACCESSION   NP_001243538
VERSION     NP_001243538.1
DBSOURCE    REFSEQ: accession NM_001256609.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 325)
  AUTHORS   Massa Lopez D, Thelen M, Stahl F, Thiel C, Linhorst A, Sylvester M,
            Hermanns-Borgmeyer I, Lullmann-Rauch R, Eskild W, Saftig P and
            Damme M.
  TITLE     The lysosomal transporter MFSD1 is essential for liver homeostasis
            and critically depends on its accessory subunit GLMP
  JOURNAL   Elife 8, e50025 (2019)
   PUBMED   31661432
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 325)
  AUTHORS   Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura
            Y and Kamatani N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   3  (residues 1 to 325)
  AUTHORS   Schieweck O, Damme M, Schroder B, Hasilik A, Schmidt B and Lubke T.
  TITLE     NCU-G1 is a highly glycosylated integral membrane protein of the
            lysosome
  JOURNAL   Biochem J 422 (1), 83-90 (2009)
   PUBMED   19489740
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 325)
  AUTHORS   Sardiello M, Palmieri M, di Ronza A, Medina DL, Valenza M,
            Gennarino VA, Di Malta C, Donaudy F, Embrione V, Polishchuk RS,
            Banfi S, Parenti G, Cattaneo E and Ballabio A.
  TITLE     A gene network regulating lysosomal biogenesis and function
  JOURNAL   Science 325 (5939), 473-477 (2009)
   PUBMED   19556463
REFERENCE   5  (residues 1 to 325)
  AUTHORS   Steffensen KR, Bouzga M, Skjeldal F, Kasi C, Karahasan A, Matre V,
            Bakke O, Guerin S and Eskild W.
  TITLE     Human NCU-G1 can function as a transcription factor and as a
            nuclear receptor co-activator
  JOURNAL   BMC Mol Biol 8, 106 (2007)
   PUBMED   18021396
  REMARK    GeneRIF: NCU-G1 is a dual-function protein capable of functioning
            as a transcription factor as well as a nuclear receptor
            co-activator.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 325)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   7  (residues 1 to 325)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA537642.1, AK296157.1 and CA428514.1.
            
            Transcript Variant: This variant (5) uses an alternate splice site
            in the 5' region and initiates translation at a downstream,
            in-frame start codon, compared to variant 1. The encoded isoform
            (5) has a shorter N-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296157.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..325
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     Protein         1..325
                     /product="glycosylated lysosomal membrane protein isoform
                     5"
                     /note="kidney predominant protein NCU-G1; lysosomal
                     protein NCU-G1; kidney lysosomal membrane protein; lncRNA
                     up-regulating CDK6 by interacting with DHX9"
                     /calculated_mol_wt=34860
     Region          1..296
                     /region_name="NCU-G1"
                     /note="Lysosomal transcription factor, NCU-G1; pfam15065"
                     /db_xref="CDD:434431"
     CDS             1..325
                     /gene="GLMP"
                     /gene_synonym="C1orf85; lnc-UCID; NCU-G1"
                     /coded_by="NM_001256609.2:507..1484"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS72947.1"
                     /db_xref="GeneID:112770"
                     /db_xref="HGNC:HGNC:29436"
                     /db_xref="MIM:619958"
ORIGIN      
        1 mvatntphst lsvnwsllls pepdgglmvl pkdsiqfssa lvftrllefd stnvsdtaak
       61 plgrpyppys ladfswnnit dsldpatlsa tfqghpmndp trtfangsla frvqafsrss
      121 rpaqpprllh tadtcqleva ligasprgnr slfglevatl gqgpdcpsmq eqhsiddeya
      181 pavfqldqll wgslpsgfaq wrpvaysqkp ggresalpcq asplhpalay slpqspivra
      241 ffgsqnnfca fnltfgastg pgywdqhyls wsmllgvgfp pvdglsplvl gimavalgap
      301 glmllggglv lllhhkkyse yqsin
//
LOCUS       NP_001374034             486 aa            linear   PRI 19-FEB-2023
DEFINITION  NEDD4-binding protein 2-like 2 isoform 12 [Homo sapiens].
ACCESSION   NP_001374034
VERSION     NP_001374034.1
DBSOURCE    REFSEQ: accession NM_001387105.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 486)
  AUTHORS   Yang KD, Wang Y, Zhang F, Luo BH, Feng DY and Zeng ZJ.
  TITLE     CircN4BP2L2 promotes colorectal cancer growth and metastasis
            through regulation of the miR-340-5p/CXCR4 axis
  JOURNAL   Lab Invest 102 (1), 38-47 (2022)
   PUBMED   36775571
  REMARK    GeneRIF: CircN4BP2L2 promotes colorectal cancer growth and
            metastasis through regulation of the miR-340-5p/CXCR4 axis.
REFERENCE   2  (residues 1 to 486)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 486)
  AUTHORS   Salipante SJ, Rojas ME, Korkmaz B, Duan Z, Wechsler J, Benson KF,
            Person RE, Grimes HL and Horwitz MS.
  TITLE     Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein
            mediating transcriptional repressor cooperation between Gfi1 and
            neutrophil elastase
  JOURNAL   Mol Cell Biol 29 (16), 4394-4405 (2009)
   PUBMED   19506020
  REMARK    GeneRIF: Data suggest that expression of PFAAP5 allows neutrophil
            elastase to potentiate the repression of Gfi1 target genes.
REFERENCE   4  (residues 1 to 486)
  AUTHORS   Couch FJ, Rommens JM, Neuhausen SL, Belanger C, Dumont M, Abel K,
            Bell R, Berry S, Bogden R, Cannon-Albright L, Farid L, Frye C,
            Hattier T, Janecki T, Jiang P, Kehrer R, Leblanc JF,
            McArthur-Morrison J, Meney D, Miki Y, Peng Y, Samson C, Schroeder
            M, Snyder SC, Simard J et al.
  TITLE     Generation of an integrated transcription map of the BRCA2 region
            on chromosome 13q12-q13
  JOURNAL   Genomics 36 (1), 86-99 (1996)
   PUBMED   8812419
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL353665.13.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.4136447.1,
                                           SRR18074967.3378438.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155371, SAMEA2467142
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..486
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.1"
     Protein         1..486
                     /product="NEDD4-binding protein 2-like 2 isoform 12"
                     /note="phosphonoformate immuno-associated protein 5;
                     protein from BRCA2 region"
                     /calculated_mol_wt=55852
     Region          404..>421
                     /region_name="AAA_33"
                     /note="AAA domain; pfam13671"
                     /db_xref="CDD:433395"
     CDS             1..486
                     /gene="N4BP2L2"
                     /gene_synonym="92M18.3; CG005; CG016; PFAAP5"
                     /coded_by="NM_001387105.1:114..1574"
                     /note="isoform 12 is encoded by transcript variant 24"
                     /db_xref="CCDS:CCDS91796.1"
                     /db_xref="GeneID:10443"
                     /db_xref="HGNC:HGNC:26916"
                     /db_xref="MIM:615788"
ORIGIN      
        1 msygeiegkf lgpreevtse prckklkstt esyvfhnhsn adfhriqekt gndwvpvtii
       61 dvrghsylqe nkikttdlhr plhdempgnr pdviesidsq vlqearpplv saddeiysts
      121 kafigpiykp pekkkrnegr neahvlngin drggqkekqk fnsekseidn elfqfykeie
      181 elekekdgfe nsckesepsq eqfvpfyegh nngllkpdee kkdlsnkamp shcdyqqnlg
      241 nepdkypcng qviptfcdts ftsfrpewqs vypfivpygp plpslnyhln iqrfsgppnp
      301 psnifqaqdd sqiqngyyvn nchvnwncmt fdqnneytdc senrssvhps gngcsmqdry
      361 vsngfcevre rcwkdhcmdk hngtdrfvnq qfqeeklnkl qkllillrgl pgsgkttlsr
      421 rnkhgvsrkk iaqmldryey qmsisivmns vepshkstqr ppppqgrqrw ggslgshnrv
      481 cvtnnh
//
LOCUS       NP_061129                136 aa            linear   PRI 12-MAR-2023
DEFINITION  cytokine-like protein 1 precursor [Homo sapiens].
ACCESSION   NP_061129
VERSION     NP_061129.1
DBSOURCE    REFSEQ: accession NM_018659.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 136)
  AUTHORS   Zhou F, Lin Q and Zheng Z.
  TITLE     Cytokine-Like Protein 1 (CYTL1) as a Key Target of M-Stage Immune
            Infiltration in Stomach Adenocarcinoma
  JOURNAL   Biomed Res Int 2023, 2926218 (2023)
   PUBMED   36825034
  REMARK    GeneRIF: Cytokine-Like Protein 1 (CYTL1) as a Key Target of M-Stage
            Immune Infiltration in Stomach Adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 136)
  AUTHORS   Xue W, Li X, Li W, Wang Y, Jiang C, Zhou L, Gao J, Yu Y, Shen Y and
            Xu Q.
  TITLE     Intracellular CYTL1, a novel tumor suppressor, stabilizes NDUFV1 to
            inhibit metabolic reprogramming in breast cancer
  JOURNAL   Signal Transduct Target Ther 7 (1), 35 (2022)
   PUBMED   35115484
  REMARK    GeneRIF: Intracellular CYTL1, a novel tumor suppressor, stabilizes
            NDUFV1 to inhibit metabolic reprogramming in breast cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 136)
  AUTHORS   Sevin M, Debeurme F, Laplane L, Badel S, Morabito M, Newman HL,
            Torres-Martin M, Yang Q, Badaoui B, Wagner-Ballon O, Saada V,
            Selimoglu-Buet D, Kraus-Berthier L, Banquet S, Derreal A, Fenaux P,
            Itzykson R, Braun T, Etienne G, Berthon C, Thepot S, Kepp O,
            Kroemer G, Padron E, Figueroa ME, Droin N and Solary E.
  TITLE     Cytokine-like protein 1-induced survival of monocytes suggests a
            combined strategy targeting MCL1 and MAPK in CMML
  JOURNAL   Blood 137 (24), 3390-3402 (2021)
   PUBMED   33690800
  REMARK    GeneRIF: Cytokine-like protein 1-induced survival of monocytes
            suggests a combined strategy targeting MCL1 and MAPK in CMML.
REFERENCE   4  (residues 1 to 136)
  AUTHORS   Zhu W, Yang X, Liu S, Wang M, Ye S, Luo H and Cui S.
  TITLE     The involvement of cytokine-like 1 (Cytl1) in chondrogenesis and
            cartilage metabolism
  JOURNAL   Biochem Biophys Res Commun 529 (3), 608-614 (2020)
   PUBMED   32736681
  REMARK    GeneRIF: The involvement of cytokine-like 1 (Cytl1) in
            chondrogenesis and cartilage metabolism.
REFERENCE   5  (residues 1 to 136)
  AUTHORS   Zhu S, Kuek V, Bennett S, Xu H, Rosen V and Xu J.
  TITLE     Protein Cytl1: its role in chondrogenesis, cartilage homeostasis,
            and disease
  JOURNAL   Cell Mol Life Sci 76 (18), 3515-3523 (2019)
   PUBMED   31089746
  REMARK    Review article
REFERENCE   6  (residues 1 to 136)
  AUTHORS   Deng X, Zhao HS, Peng Z, Deng WW, Li N, Guo S and Shi TP.
  TITLE     [Study on the mechanism of C17orf62 induced cell death]
  JOURNAL   Beijing Da Xue Xue Bao Yi Xue Ban 43 (2), 168-172 (2011)
   PUBMED   21503106
  REMARK    GeneRIF: C17orf62-L could induce cell death accompanied with rising
            of cleaved PARP.
REFERENCE   7  (residues 1 to 136)
  AUTHORS   Tomczak A and Pisabarro MT.
  TITLE     Identification of CCR2-binding features in Cytl1 by a CCL2-like
            chemokine model
  JOURNAL   Proteins 79 (4), 1277-1292 (2011)
   PUBMED   21322034
  REMARK    GeneRIF: We report a structural-functional characterization of
            cytokine-like protein 1 (Cytl1) by a combination of different
            computational structure-based techniques.
REFERENCE   8  (residues 1 to 136)
  AUTHORS   Zhang Z and Henzel WJ.
  TITLE     Signal peptide prediction based on analysis of experimentally
            verified cleavage sites
  JOURNAL   Protein Sci 13 (10), 2819-2824 (2004)
   PUBMED   15340161
REFERENCE   9  (residues 1 to 136)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   10 (residues 1 to 136)
  AUTHORS   Liu X, Rapp N, Deans R and Cheng L.
  TITLE     Molecular cloning and chromosomal mapping of a candidate cytokine
            gene selectively expressed in human CD34+ cells
  JOURNAL   Genomics 65 (3), 283-292 (2000)
   PUBMED   10857752
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC108139.5.
            
            Summary: C17 is a cytokine-like protein specifically expressed in
            bone marrow and cord blood mononuclear cells that bear the CD34
            (MIM 142230) surface marker (Liu et al., 2000 [PubMed
            10857752]).[supplied by OMIM, Mar 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC031391.1, AF193766.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149398 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307746.9/ ENSP00000303550.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..136
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.2"
     Protein         1..136
                     /product="cytokine-like protein 1 precursor"
                     /note="cytokine-like protein C17; cytokine-like protein 1"
                     /calculated_mol_wt=13371
     sig_peptide     1..22
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2225
     Region          21..133
                     /region_name="CYTL1"
                     /note="Cytokine-like protein 1; pfam15153"
                     /db_xref="CDD:434505"
     CDS             1..136
                     /gene="CYTL1"
                     /gene_synonym="C17; C4orf4"
                     /coded_by="NM_018659.3:14..424"
                     /db_xref="CCDS:CCDS3379.1"
                     /db_xref="GeneID:54360"
                     /db_xref="HGNC:HGNC:24435"
                     /db_xref="MIM:607930"
ORIGIN      
        1 mrtpgplpvl llllagapaa rptpptcysr mralsqeitr dfnllqvsep sepcvrylpr
       61 lyldihnycv ldklrdfvas ppcwkvaqvd slkdkarkly timnsfcrrd lvfllddcna
      121 leypipvttv lpdrqr
//
LOCUS       NP_075044                835 aa            linear   PRI 14-MAR-2023
DEFINITION  B-cell lymphoma/leukemia 11A isoform 1 [Homo sapiens].
ACCESSION   NP_075044
VERSION     NP_075044.2
DBSOURCE    REFSEQ: accession NM_022893.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 835)
  AUTHORS   Liu A, Hu Y, Chong B, Zheng S and Li L.
  TITLE     [Genetic analysis of a family with BCL11A-related intellectual
            disability]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (1), 42-46 (2023)
   PUBMED   36584999
  REMARK    GeneRIF: [Genetic analysis of a family with BCL11A-related
            intellectual disability].
REFERENCE   2  (residues 1 to 835)
  AUTHORS   Li H, Lin R, Li H, Ou R, Wang K, Lin J and Li C.
  TITLE     MicroRNA-92a-3p-mediated inhibition of BCL11A upregulates
            gamma-globin expression and inhibits oxidative stress and apoptosis
            in erythroid precursor cells
  JOURNAL   Hematology 27 (1), 1152-1162 (2022)
   PUBMED   36178486
  REMARK    GeneRIF: MicroRNA-92a-3p-mediated inhibition of BCL11A upregulates
            gamma-globin expression and inhibits oxidative stress and apoptosis
            in erythroid precursor cells.
REFERENCE   3  (residues 1 to 835)
  AUTHORS   Sales RR, Nogueira BL, Belisario AR, Faria G, Mendes F, Viana MB
            and Luizon MR.
  TITLE     Fetal hemoglobin-boosting haplotypes of BCL11A gene and HBS1L-MYB
            intergenic region in the prediction of clinical and hematological
            outcomes in a cohort of children with sickle cell anemia
  JOURNAL   J Hum Genet 67 (12), 701-709 (2022)
   PUBMED   36167770
  REMARK    GeneRIF: Fetal hemoglobin-boosting haplotypes of BCL11A gene and
            HBS1L-MYB intergenic region in the prediction of clinical and
            hematological outcomes in a cohort of children with sickle cell
            anemia.
REFERENCE   4  (residues 1 to 835)
  AUTHORS   Huang P, Peslak SA, Ren R, Khandros E, Qin K, Keller CA, Giardine
            B, Bell HW, Lan X, Sharma M, Horton JR, Abdulmalik O, Chou ST, Shi
            J, Crossley M, Hardison RC, Cheng X and Blobel GA.
  TITLE     HIC2 controls developmental hemoglobin switching by repressing
            BCL11A transcription
  JOURNAL   Nat Genet 54 (9), 1417-1426 (2022)
   PUBMED   35941187
  REMARK    GeneRIF: HIC2 controls developmental hemoglobin switching by
            repressing BCL11A transcription.
REFERENCE   5  (residues 1 to 835)
  AUTHORS   Jin Q, Chen Y, Du S, Xu D, Yue J, Cai L and Yuan X.
  TITLE     BCL11A Facilitates Cell Proliferation and Metastasis in
            Neuroblastoma via Regulating the PI3K/Akt Signaling Pathway
  JOURNAL   Curr Cancer Drug Targets 22 (11), 919-930 (2022)
   PUBMED   35909289
  REMARK    GeneRIF: BCL11A Facilitates Cell Proliferation and Metastasis in
            Neuroblastoma via Regulating the PI3K/Akt Signaling Pathway.
REFERENCE   6  (residues 1 to 835)
  AUTHORS   Satterwhite E, Sonoki T, Willis TG, Harder L, Nowak R, Arriola EL,
            Liu H, Price HP, Gesk S, Steinemann D, Schlegelberger B, Oscier DG,
            Siebert R, Tucker PW and Dyer MJ.
  TITLE     The BCL11 gene family: involvement of BCL11A in lymphoid
            malignancies
  JOURNAL   Blood 98 (12), 3413-3420 (2001)
   PUBMED   11719382
REFERENCE   7  (residues 1 to 835)
  AUTHORS   Saiki Y, Yamazaki Y, Yoshida M, Katoh O and Nakamura T.
  TITLE     Human EVI9, a homologue of the mouse myeloid leukemia gene, is
            expressed in the hematopoietic progenitors and down-regulated
            during myeloid differentiation of HL60 cells
  JOURNAL   Genomics 70 (3), 387-391 (2000)
   PUBMED   11161790
REFERENCE   8  (residues 1 to 835)
  AUTHORS   Nakamura T, Yamazaki Y, Saiki Y, Moriyama M, Largaespada DA,
            Jenkins NA and Copeland NG.
  TITLE     Evi9 encodes a novel zinc finger protein that physically interacts
            with BCL6, a known human B-cell proto-oncogene product
  JOURNAL   Mol Cell Biol 20 (9), 3178-3186 (2000)
   PUBMED   10757802
REFERENCE   9  (residues 1 to 835)
  AUTHORS   Avram D, Fields A, Pretty On Top K, Nevrivy DJ, Ishmael JE and Leid
            M.
  TITLE     Isolation of a novel family of C(2)H(2) zinc finger proteins
            implicated in transcriptional repression mediated by chicken
            ovalbumin upstream promoter transcription factor (COUP-TF) orphan
            nuclear receptors
  JOURNAL   J Biol Chem 275 (14), 10315-10322 (2000)
   PUBMED   10744719
REFERENCE   10 (residues 1 to 835)
  AUTHORS   Peron,A., Bradbury,K., Viskochil,D.H. and Dias,C.
  TITLE     BCL11A-Related Intellectual Disability
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31556984
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009970.10, AJ404611.1,
            AB058712.1, AF080216.1, AK001035.1 and BG393787.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 28, 2002 this sequence version replaced NP_075044.1.
            
            Summary: This gene encodes a C2H2 type zinc-finger protein by its
            similarity to the mouse Bcl11a/Evi9 protein. The corresponding
            mouse gene is a common site of retroviral integration in myeloid
            leukemia, and may function as a leukemia disease gene, in part,
            through its interaction with BCL6. During hematopoietic cell
            differentiation, this gene is down-regulated. It is possibly
            involved in lymphoma pathogenesis since translocations associated
            with B-cell malignancies also deregulates its expression. Multiple
            transcript variants encoding several different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) is also known as B-cell
            lymphoma/leukaemia 11A extra long form (BCL11A-XL). It encodes the
            longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ404611.1, SRR6380202.108948.17
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: locus in the vicinity of
                                      disease-associated variant(s)
            MANE Ensembl match     :: ENST00000642384.2/ ENSP00000496168.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..835
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.1"
     Protein         1..835
                     /product="B-cell lymphoma/leukemia 11A isoform 1"
                     /note="ecotropic viral integration site 9 homolog;
                     C2H2-type zinc finger protein; B-cell lymphoma/leukemia
                     11A; B-cell CLL/lymphoma 11A (zinc finger protein); BCL11A
                     B-cell CLL/lymphoma 11A (zinc finger protein);
                     COUP-TF-interacting protein 1; ecotropic viral integration
                     site 9 protein homolog; zinc finger protein 856; B cell
                     CLL/lymphoma 11A; BCL11A, BAF complex component; BAF
                     chromatin remodeling complex subunit BCL11A"
                     /calculated_mol_wt=91066
     Region          1..210
                     /region_name="Required for nuclear body formation and for
                     SUMO1 recruitment. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H165.2)"
     Region          1..41
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H165.2)"
     Site            86
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QYE3; propagated from
                     UniProtKB/Swiss-Prot (Q9H165.2)"
     Site            205
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q9H165.2)"
     Site            271
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9QYE3; propagated from
                     UniProtKB/Swiss-Prot (Q9H165.2)"
     Region          323..376
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H165.2)"
     Site            332
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9H165.2)"
     Site            337
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QYE3; propagated from
                     UniProtKB/Swiss-Prot (Q9H165.2)"
     Region          378..399
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          379..399
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          391..416
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          407..427
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          421..458
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H165.2)"
     Site            446
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QYE3; propagated from
                     UniProtKB/Swiss-Prot (Q9H165.2)"
     Site            447
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QYE3; propagated from
                     UniProtKB/Swiss-Prot (Q9H165.2)"
     Region          471..512
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H165.2)"
     Region          572..619
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H165.2)"
     Site            608
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q9H165.2)"
     Site            625
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9H165.2)"
     Site            630
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9H165.2)"
     Region          678..740
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H165.2)"
     Site            701
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9H165.2)"
     Region          743..764
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          744..764
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(749,751,753,755..756,759..760,763,777,779,783..784,
                     787..788,791,807,809,811,813..814,817..818)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          756..781
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          772..792
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          802..820
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..835
                     /gene="BCL11A"
                     /gene_synonym="CTIP1; DILOS; EVI9; HBFQTL5; SMARCM1;
                     ZNF856"
                     /coded_by="NM_022893.4:385..2892"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1862.1"
                     /db_xref="GeneID:53335"
                     /db_xref="HGNC:HGNC:13221"
                     /db_xref="MIM:606557"
ORIGIN      
        1 msrrkqgkpq hlskrefspe pleailtdde pdhgplgape gdhdlltcgq cqmnfplgdi
       61 lifiehkrkq cngslcleka vdkppspspi emkkasnpve vgiqvtpedd dclstssrgi
      121 cpkqehiadk llhwrglssp rsahgalipt pgmsaeyapq gickdepssy tcttckqpft
      181 sawfllqhaq nthglriyle sehgspltpr vgipsglgae cpsqpplhgi hiadnnpfnl
      241 lripgsvsre asglaegrfp ptpplfsppp rhhldphrie rlgaeemala thhpsafdrv
      301 lrlnpmamep pamdfsrrlr elagntsspp lspgrpspmq rllqpfqpgs kppflatppl
      361 pplqsappps qppvksksce fcgktfkfqs nlvvhrrsht gekpykcnlc dhactqaskl
      421 krhmkthmhk sspmtvksdd glstasspep gtsdlvgsas salksvvakf ksendpnlip
      481 engdeeeeed deeeeeeeee eeeelteser vdygfglsle aarhhenssr gavvgvgdes
      541 ralpdvmqgm vlssmqhfse afhqvlgekh krghlaeaeg hrdtcdedsv agesdriddg
      601 tvngrgcspg esasgglskk lllgspssls pfskriklek efdlppaamp ntenvysqwl
      661 agyaasrqlk dpflsfgdsr qspfassseh ssengslrfs tppgeldggi sgrsgtgsgg
      721 stphisgpgp grpsskegrr sdtceycgkv fkncsnltvh rrshtgerpy kcelcnyaca
      781 qsskltrhmk thgqvgkdvy kceickmpfs vystlekhmk kwhsdrvlnn dikte
//
LOCUS       NP_919431               1717 aa            linear   PRI 14-MAR-2023
DEFINITION  PH domain leucine-rich repeat-containing protein phosphatase 1
            [Homo sapiens].
ACCESSION   NP_919431 XP_166290
VERSION     NP_919431.2
DBSOURCE    REFSEQ: accession NM_194449.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1717)
  AUTHORS   Sharma M and Dey CS.
  TITLE     PHLPP isoforms differentially regulate Akt isoforms and AS160
            affecting neuronal insulin signaling and insulin resistance via
            Scribble
  JOURNAL   Cell Commun Signal 20 (1), 179 (2022)
   PUBMED   36376971
  REMARK    GeneRIF: PHLPP isoforms differentially regulate Akt isoforms and
            AS160 affecting neuronal insulin signaling and insulin resistance
            via Scribble.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1717)
  AUTHORS   Guo B, Xiong X, Hasani S, Wen YA, Li AT, Martinez R, Skaggs AT and
            Gao T.
  TITLE     Downregulation of PHLPP induced by endoplasmic reticulum stress
            promotes eIF2alpha phosphorylation and chemoresistance in colon
            cancer
  JOURNAL   Cell Death Dis 12 (11), 960 (2021)
   PUBMED   34663797
  REMARK    GeneRIF: Downregulation of PHLPP induced by endoplasmic reticulum
            stress promotes eIF2alpha phosphorylation and chemoresistance in
            colon cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1717)
  AUTHORS   Andreozzi F, Procopio C, Greco A, Mannino GC, Miele C, Raciti GA,
            Iadicicco C, Beguinot F, Pontiroli AE, Hribal ML, Folli F and Sesti
            G.
  TITLE     Increased levels of the Akt-specific phosphatase PH domain
            leucine-rich repeat protein phosphatase (PHLPP)-1 in obese
            participants are associated with insulin resistance
  JOURNAL   Diabetologia 54 (7), 1879-1887 (2011)
   PUBMED   21461637
  REMARK    GeneRIF: Increased abundance of PHLPP-1, production of which is
            regulated by insulin, may represent a new molecular defect in
            insulin-resistant states such as obesity.
REFERENCE   4  (residues 1 to 1717)
  AUTHORS   Suljagic M, Laurenti L, Tarnani M, Alam M, Malek SN and Efremov DG.
  TITLE     Reduced expression of the tumor suppressor PHLPP1 enhances the
            antiapoptotic B-cell receptor signal in chronic lymphocytic
            leukemia B-cells
  JOURNAL   Leukemia 24 (12), 2063-2071 (2010)
   PUBMED   20861921
  REMARK    GeneRIF: Reduced expression of the tumor suppressor PHLPP1 enhances
            the antiapoptotic B-cell receptor signal in chronic lymphocytic
            leukemia B-cells.
REFERENCE   5  (residues 1 to 1717)
  AUTHORS   Jackson TC, Verrier JD, Semple-Rowland S, Kumar A and Foster TC.
  TITLE     PHLPP1 splice variants differentially regulate AKT and PKCalpha
            signaling in hippocampal neurons: characterization of PHLPP
            proteins in the adult hippocampus
  JOURNAL   J Neurochem 115 (4), 941-955 (2010)
   PUBMED   20819118
REFERENCE   6  (residues 1 to 1717)
  AUTHORS   Kanan Y, Matsumoto H, Song H, Sokolov M, Anderson RE and Rajala RV.
  TITLE     Serine/threonine kinase akt activation regulates the activity of
            retinal serine/threonine phosphatases, PHLPP and PHLPPL
  JOURNAL   J Neurochem 113 (2), 477-488 (2010)
   PUBMED   20089132
REFERENCE   7  (residues 1 to 1717)
  AUTHORS   Liu J, Weiss HL, Rychahou P, Jackson LN, Evers BM and Gao T.
  TITLE     Loss of PHLPP expression in colon cancer: role in proliferation and
            tumorigenesis
  JOURNAL   Oncogene 28 (7), 994-1004 (2009)
   PUBMED   19079341
  REMARK    GeneRIF: Loss of PHLPP expression is associated with colon cancer.
REFERENCE   8  (residues 1 to 1717)
  AUTHORS   Brognard J, Sierecki E, Gao T and Newton AC.
  TITLE     PHLPP and a second isoform, PHLPP2, differentially attenuate the
            amplitude of Akt signaling by regulating distinct Akt isoforms
  JOURNAL   Mol Cell 25 (6), 917-931 (2007)
   PUBMED   17386267
  REMARK    GeneRIF: Mechanism to selectively terminate Akt-signaling pathways
            through the differential inactivation of specific Akt isoforms by
            specific PHLPP isoforms.
REFERENCE   9  (residues 1 to 1717)
  AUTHORS   Gao T, Furnari F and Newton AC.
  TITLE     PHLPP: a phosphatase that directly dephosphorylates Akt, promotes
            apoptosis, and suppresses tumor growth
  JOURNAL   Mol Cell 18 (1), 13-24 (2005)
   PUBMED   15808505
REFERENCE   10 (residues 1 to 1717)
  AUTHORS   Shimizu K, Okada M, Takano A and Nagai K.
  TITLE     SCOP, a novel gene product expressed in a circadian manner in rat
            suprachiasmatic nucleus
  JOURNAL   FEBS Lett 458 (3), 363-369 (1999)
   PUBMED   10570941
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022046.11, BC126277.1,
            AC015989.11 and AC027553.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 19, 2010 this sequence version replaced NP_919431.1.
            
            Summary: This gene encodes a member of the serine/threonine
            phosphatase family. The encoded protein promotes apoptosis by
            dephosphorylating and inactivating the serine/threonine kinase Akt,
            and functions as a tumor suppressor in multiple types of cancer.
            Increased expression of this gene may also play a role in obesity
            and type 2 diabetes by interfering with Akt-mediated insulin
            signaling. [provided by RefSeq, Dec 2011].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments and orthologous data.
            
            CCDS Note: The coding region has been updated to extend the
            N-terminus to one that is more supported by available conservation
            data and publications. There are no publicly available human
            transcripts that include the extended region. However, the update
            is supported by homologous transcript data and is consistent with
            the full-length 190 kDa human isoform described in the literature.
            This 190 kDa product, known as PHLPP1beta, has been detected in
            several studies, including PMIDs 17386267, 19079341, 20089132,
            20819118 and 20861921.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC014927.2, AB011178.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262719.10/ ENSP00000262719.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1717
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.33"
     Protein         1..1717
                     /product="PH domain leucine-rich repeat-containing protein
                     phosphatase 1"
                     /EC_number="3.1.3.16"
                     /note="pleckstrin homology domain containing, family E
                     (with leucine rich repeats) member 1; suprachiasmatic
                     nucleus circadian oscillatory protein; SCN circadian
                     oscillatory protein; PH domain-containing family E member
                     1; protein phosphatase, Mg2+/Mn2+ dependent 3A"
                     /calculated_mol_wt=184542
     Region          1..25
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O60346.3)"
     Region          <2..444
                     /region_name="PRK07764"
                     /note="DNA polymerase III subunits gamma and tau;
                     Validated"
                     /db_xref="CDD:236090"
     Region          41..118
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          136..156
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          202..>244
                     /region_name="Ubl1_cv_Nsp3_N-like"
                     /note="first ubiquitin-like (Ubl) domain located at the
                     N-terminus of coronavirus SARS-CoV non-structural protein
                     3 (Nsp3) and related proteins; cl28922"
                     /db_xref="CDD:452900"
     Region          252..470
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          <273..444
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            317
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60346.3)"
     Site            412
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O60346.3)"
     Region          <471..528
                     /region_name="RA_PHLPP1"
                     /note="Ras-associating (RA) domain found in PH domain
                     leucine-rich repeat-containing protein phosphatase 1
                     (PHLPP1); cd17240"
                     /db_xref="CDD:340760"
     Region          535..631
                     /region_name="PH_PHLPP-like"
                     /note="PH domain leucine-rich repeat protein phosphatase
                     family Pleckstrin homology-like domain; cd13322"
                     /db_xref="CDD:270131"
     Region          638..659
                     /region_name="LRR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          639..>1126
                     /region_name="PLN00113"
                     /note="leucine-rich repeat receptor-like protein kinase;
                     Provisional"
                     /db_xref="CDD:215061"
     Region          641..661
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          661..682
                     /region_name="LRR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          662..692
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          692..712
                     /region_name="LRR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          693..738
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          715..736
                     /region_name="LRR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          738..760
                     /region_name="LRR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          739..761
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          761..783
                     /region_name="LRR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          762..784
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          784..804
                     /region_name="LRR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          785..808
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          808..831
                     /region_name="LRR 8"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          810..832
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          832..853
                     /region_name="LRR 9"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          833..853
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          854..895
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          873..894
                     /region_name="LRR 10"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          895..916
                     /region_name="LRR 11"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          896..918
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          918..939
                     /region_name="LRR 12"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          919..941
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          941..962
                     /region_name="LRR 13"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          942..963
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          963..984
                     /region_name="LRR 14"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          964..987
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          987..1008
                     /region_name="LRR 15"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          988..1011
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1013..1033
                     /region_name="LRR 16"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          1014..1037
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1037..1058
                     /region_name="LRR 17"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          1038..1061
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1061..1082
                     /region_name="LRR 18"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          1076..1205
                     /region_name="Interaction with NHERF1.
                     /evidence=ECO:0000269|PubMed:21804599"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          1107..1129
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          1168..1420
                     /region_name="PP2Cc"
                     /note="Serine/threonine phosphatases, family 2C, catalytic
                     domain; smart00332"
                     /db_xref="CDD:214625"
     Site            order(1185,1189..1190,1210..1212,1374,1413)
                     /site_type="active"
                     /db_xref="CDD:238083"
     Region          1458..1510
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          1673..1717
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     Region          1715..1717
                     /region_name="PDZ-binding, required for interaction with
                     NHERF1. /evidence=ECO:0000269|PubMed:21804599"
                     /note="propagated from UniProtKB/Swiss-Prot (O60346.3)"
     CDS             1..1717
                     /gene="PHLPP1"
                     /gene_synonym="PHLPP; PLEKHE1; PPM3A; SCOP"
                     /coded_by="NM_194449.4:144..5297"
                     /db_xref="CCDS:CCDS45881.2"
                     /db_xref="GeneID:23239"
                     /db_xref="HGNC:HGNC:20610"
                     /db_xref="MIM:609396"
ORIGIN      
        1 mepaaaatvq rlpelgredr asapaaaaaa aaaaaaaaaa laaaagggrs pepaltpaap
       61 sggngsgsga reeapgeapp gplpgragga grrrrrgapq piaggaapvp gagggansll
      121 lrrgrlkrnl saaaaaasss ssssaaaash spgaaglpas csasaslctr sldrktlllk
      181 hrqtlqlqps drdwvrhqlq rgcvhvfdrh mastylrpvl ctldttagev aarllqlghk
      241 gggvvkvlgq gpgaaaarep aepppeagpr lappeprdse vpparsapga fggpprappa
      301 dlplpvggpg gwsrraspap sdsspgepfv ggpvssprap rpvvsdtesf slspsaesvs
      361 drldpyssgg gssssseele adaasaptgv pgqprrpghp aqplplpqta sspqpqqkap
      421 raidspggav regsceekaa aavapgglqs tpgrsgvtae kapppppppt lyvqlhgett
      481 rrleaeekpl qiqndylfql gfgelwrvqe egmdseigcl irfyagkphs tgsseriqls
      541 gmynvrkgkm qlpvnrwtrr qvilcgtcli vssvkdsltg kmhvlpligg kveevkkhqh
      601 clafsssgpq sqtyyicfdt fteylrwlrq vskvasqris svdlsccsle hlpanlfysq
      661 dlthlnlkqn flrqnpslpa arglnelqrf tklkslnlsn nhlgdfplav csiptlaeln
      721 vscnalrsvp aavgvmhnlq tflldgnflq slpaelenmk qlsylglsfn eftdipevle
      781 kltavdklcm sgncvetlrl qalrkmphik hvdlrlnvir kliadevdfl qhvtqldlrd
      841 nklgdldami fnnievlhce rnqlvtldic gyflkalyas snelvqldvy pvpnylsymd
      901 vsrnrlenvp ewvcesrkle vldighnqic elparlfcns slrkllaghn qlarlperle
      961 rtsvevldvq hnqllelppn llmkadslrf lnasankles lppatlseet nsilqelylt
     1021 nnsltdkcvp lltghphlki lhmaynrlqs fpaskmakle eleeidlsgn klkaipttim
     1081 ncrrmhtvia hsncievfpe vmqlpeikcv dlscnelsev tlpenlppkl qeldltgnpr
     1141 lvldhktlel lnnircfkid qpstgdasga pavwshgyte asgvknklcv aalsvnnfcd
     1201 nrealygvfd gdrnvevpyl lqctmsdila eelqktknee eymvntfivm qrklgtagqk
     1261 lggaavlchi khdpvdpggs ftltsanvgk cqtvlcrngk plplsrsyim sceeelkrik
     1321 qhkaiitedg kvngvtestr ilgytflhps vvprphvqsv lltpqdeffi lgskglwdsl
     1381 sveeaveavr nvpdalaaak klctlaqsyg chdsisavvv qlsvtedsfc ccelsaggav
     1441 pppspgifpp svnmvikdrp sdglgvpsss sgmaseisse lstsemssev gstasdeppp
     1501 galsenspay pseqrcmlhp iclsnsfqrq lssatfssaf sdngldsdde epiegvftng
     1561 srvevevdih csrakekekq qhllqvpaea sdegivisan edepglprka dfsavgtigr
     1621 rrangsvapq ershnvieva tdaplrkpgg yfaapaqpdp ddqfiippel eeevkeimkh
     1681 hqeqqqqqqp ppppqlqpql prhyqldqlp dyydtpl
//
LOCUS       NP_001306084             487 aa            linear   PRI 14-MAR-2023
DEFINITION  cytochrome P450 4A11 isoform 2 [Homo sapiens].
ACCESSION   NP_001306084
VERSION     NP_001306084.1
DBSOURCE    REFSEQ: accession NM_001319155.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 487)
  AUTHORS   Huang Z, Jiang Y and Zhou Y.
  TITLE     The role of cytochrome P450 gene rs1126742 polymorphism and risk of
            hypertension: a systematic review and meta-analysis
  JOURNAL   Biosci Rep 40 (5) (2020)
   PUBMED   32373936
  REMARK    GeneRIF: The role of cytochrome P450 gene rs1126742 polymorphism
            and risk of hypertension: a systematic review and meta-analysis.
REFERENCE   2  (residues 1 to 487)
  AUTHORS   Jing C, Wang T, Ma R, Cao H, Wang Z, Liu S, Chen D, Zhang J, Wu Y,
            Zhang Y, Wu J and Feng J.
  TITLE     New genetic variations discovered in KRAS wild-type cetuximab
            resistant chinese colorectal cancer patients
  JOURNAL   Mol Carcinog 59 (5), 478-491 (2020)
   PUBMED   32141150
  REMARK    GeneRIF: Mutation in CYP4A11 gene is associated with cetuximab
            resistance in colorectal cancer.
REFERENCE   3  (residues 1 to 487)
  AUTHORS   Gao H, Cao Y, Xia H, Zhu X and Jin Y.
  TITLE     CYP4A11 is involved in the development of nonalcoholic fatty liver
            disease via ROS-induced lipid peroxidation and inflammation
  JOURNAL   Int J Mol Med 45 (4), 1121-1129 (2020)
   PUBMED   32124935
  REMARK    GeneRIF: CYP4A11 is involved in the development of nonalcoholic
            fatty liver disease via ROSinduced lipid peroxidation and
            inflammation.
REFERENCE   4  (residues 1 to 487)
  AUTHORS   Yu K, Zhang T and Li X.
  TITLE     Genetic role of CYP4A11 polymorphisms in the risk of developing
            cardiovascular and cerebrovascular diseases
  JOURNAL   Ann Hum Genet 82 (6), 370-381 (2018)
   PUBMED   30132788
  REMARK    GeneRIF: The rs1126742 T/C polymorphism of CYP4A11 is more likely
            to be a genetic risk factor for the hypertension cases in the
            Caucasian population. Moreover, whereas the AG genotype of CYP4A11
            rs9332978 may be associated with an increased risk of hypertension,
            the AA genotype of rs9333025 may be linked to a decreased risk of
            cardiovascular and cerebrovascular diseases. [meta-analysis]
REFERENCE   5  (residues 1 to 487)
  AUTHORS   Sirotina S, Ponomarenko I, Kharchenko A, Bykanova M, Bocharova A,
            Vagaytseva K, Stepanov V, Churnosov M, Solodilova M and Polonikov
            A.
  TITLE     A Novel Polymorphism in the Promoter of the CYP4A11 Gene Is
            Associated with Susceptibility to Coronary Artery Disease
  JOURNAL   Dis Markers 2018, 5812802 (2018)
   PUBMED   29484037
  REMARK    GeneRIF: Haplotype G-C-A of CYP4A11 was associated with increased
            risk of coronary artery disease.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 487)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert
            DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (residues 1 to 487)
  AUTHORS   Kawashima H, Kusunose E, Kikuta Y, Kinoshita H, Tanaka S, Yamamoto
            S, Kishimoto T and Kusunose M.
  TITLE     Purification and cDNA cloning of human liver CYP4A fatty acid
            omega-hydroxylase
  JOURNAL   J Biochem 116 (1), 74-80 (1994)
   PUBMED   7798189
REFERENCE   8  (residues 1 to 487)
  AUTHORS   Imaoka S, Ogawa H, Kimura S and Gonzalez FJ.
  TITLE     Complete cDNA sequence and cDNA-directed expression of CYP4A11, a
            fatty acid omega-hydroxylase expressed in human kidney
  JOURNAL   DNA Cell Biol 12 (10), 893-899 (1993)
   PUBMED   8274222
REFERENCE   9  (residues 1 to 487)
  AUTHORS   Palmer CN, Richardson TH, Griffin KJ, Hsu MH, Muerhoff AS, Clark JE
            and Johnson EF.
  TITLE     Characterization of a cDNA encoding a human kidney, cytochrome
            P-450 4A fatty acid omega-hydroxylase and the cognate enzyme
            expressed in Escherichia coli
  JOURNAL   Biochim Biophys Acta 1172 (1-2), 161-166 (1993)
   PUBMED   7679927
REFERENCE   10 (residues 1 to 487)
  AUTHORS   Kawashima H, Kusunose E, Kubota I, Maekawa M and Kusunose M.
  TITLE     Purification and NH2-terminal amino acid sequences of human and rat
            kidney fatty acid omega-hydroxylases
  JOURNAL   Biochim Biophys Acta 1123 (2), 156-162 (1992)
   PUBMED   1739747
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD013974.1, AL731892.6 and
            L04751.1.
            
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum and
            hydroxylates medium-chain fatty acids such as laurate and
            myristate. Multiple transcript variants have been found for this
            gene. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction compared to variant 1. The resulting isoform (2)
            has the same N- and C-termini but is shorter compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CD013974.1, DRR138522.473196.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..487
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p33"
     Protein         1..487
                     /product="cytochrome P450 4A11 isoform 2"
                     /EC_number="1.14.14.1"
                     /EC_number="1.14.14.80"
                     /note="fatty acid omega-hydroxylase; P450HL-omega;
                     alkane-1 monooxygenase; lauric acid omega-hydroxylase;
                     cytochrome P450, subfamily IVA, polypeptide 11; cytochrome
                     P450 4A11; 20-HETE synthase; cytochrome P450HL-omega;
                     cytochrome P-450HK-omega; 20-hydroxyeicosatetraenoic acid
                     synthase; long-chain fatty acid omega-monooxygenase;
                     cytochrome P450, family 4, subfamily A, polypeptide 11"
                     /calculated_mol_wt=55450
     Region          74..473
                     /region_name="CYP4B-like"
                     /note="cytochrome P450 family 4, subfamily B and similar
                     cytochrome P450s, including subfamilies A, T, X, and Z;
                     cd20678"
                     /db_xref="CDD:410771"
     Site            order(115,120,131..132,139,143,150,286,289..290,293,
                     353..354,357,417..419,423..427,430..431,435)
                     /site_type="other"
                     /note="heme binding site [chemical binding]"
                     /db_xref="CDD:410771"
     Site            order(132,288..289,293,354,356,358,463)
                     /site_type="other"
                     /note="chemical substrate binding pocket [chemical
                     binding]"
                     /db_xref="CDD:410771"
     CDS             1..487
                     /gene="CYP4A11"
                     /gene_synonym="CP4Y; CYP4A2; CYP4AII; CYPIVA11"
                     /coded_by="NM_001319155.2:44..1507"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:1579"
                     /db_xref="HGNC:HGNC:2642"
                     /db_xref="MIM:601310"
ORIGIN      
        1 msvsvlspsr llgdvsgilq aasllillll likavqlylh rqwllkalqq fpcppshwlf
       61 ghiqelqqdq elqriqkwve tfpsacphwl wggkvrvqly dpdymkvilg rsdpkshgsy
      121 rflapwigyg llllngqtwf qhrrmltpaf hydilkpyvg lmadsvrvml dkweellgqd
      181 splevfqhvs lmtldtimkc afshqgsiqv dsltsagrwt hracqlahqh tdqviqlrka
      241 qlqkegelek ikrkrhldfl dilllakmen gsilsdkdlr aevdtfmfeg hdttasgisw
      301 ilyalathpk hqercreeih sllgdgasit wnhldqmpyt tmcikealrl yppvpgigre
      361 lstpvtfpdg rslpkgimvl lsiyglhhnp kvwpnpevfd pfrfapgsaq hshaflpfsg
      421 gsrncigkqf amnelkvata ltllrfellp dptripipia rlvlkskngi hlrlrrlpnp
      481 cedkdql
//
LOCUS       NP_001361349            1241 aa            linear   PRI 17-MAR-2023
DEFINITION  serine/threonine-protein kinase Nek1 isoform 6 [Homo sapiens].
ACCESSION   NP_001361349
VERSION     NP_001361349.1
DBSOURCE    REFSEQ: accession NM_001374420.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1241)
  AUTHORS   Jiang Q, Lin J, Wei Q, Li C, Hou Y, Zhang L, Ou R, Liu K, Yang T,
            Xiao Y, Hadano S and Shang H.
  TITLE     Genetic and clinical characteristics of ALS patients with NEK1 gene
            variants
  JOURNAL   Neurobiol Aging 123, 191-199 (2023)
   PUBMED   36443167
  REMARK    GeneRIF: Genetic and clinical characteristics of ALS patients with
            NEK1 gene variants.
REFERENCE   2  (residues 1 to 1241)
  AUTHORS   Grima N, Henden L, Fearnley LG, Rowe DB, D'Silva S, Pamphlett R,
            Adams L, Kiernan MC, Mazumder S, Timmins HC, Zoing M, Bahlo M,
            Blair IP and Williams KL.
  TITLE     NEK1 and STMN2 short tandem repeat lengths are not associated with
            Australian amyotrophic lateral sclerosis risk
  JOURNAL   Neurobiol Aging 116, 92-95 (2022)
   PUBMED   35613520
  REMARK    GeneRIF: NEK1 and STMN2 short tandem repeat lengths are not
            associated with Australian amyotrophic lateral sclerosis risk.
REFERENCE   3  (residues 1 to 1241)
  AUTHORS   Martins MB, Perez AM, Bohr VA, Wilson DM 3rd and Kobarg J.
  TITLE     NEK1 deficiency affects mitochondrial functions and the
            transcriptome of key DNA repair pathways
  JOURNAL   Mutagenesis 36 (3), 223-236 (2021)
   PUBMED   33740813
  REMARK    GeneRIF: NEK1 deficiency affects mitochondrial functions and the
            transcriptome of key DNA repair pathways.
REFERENCE   4  (residues 1 to 1241)
  AUTHORS   Yao L, He X, Cui B, Zhao F and Zhou C.
  TITLE     NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS):
            a meta-analysis
  JOURNAL   Neurol Sci 42 (4), 1277-1285 (2021)
   PUBMED   33462636
  REMARK    GeneRIF: NEK1 mutations and the risk of amyotrophic lateral
            sclerosis (ALS): a meta-analysis.
            Review article
REFERENCE   5  (residues 1 to 1241)
  AUTHORS   Lattante S, Doronzio PN, Conte A, Marangi G, Martello F, Bisogni G,
            Meleo E, Colavito D, Del Giudice E, Patanella AK, Bernardo D,
            Romano A, Zollino M and Sabatelli M.
  TITLE     Novel variants and cellular studies on patients' primary
            fibroblasts support a role for NEK1 missense variants in ALS
            pathogenesis
  JOURNAL   Hum Mol Genet 30 (1), 65-71 (2021)
   PUBMED   33445179
  REMARK    GeneRIF: Novel variants and cellular studies on patients' primary
            fibroblasts support a role for NEK1 missense variants in ALS
            pathogenesis.
REFERENCE   6  (residues 1 to 1241)
  AUTHORS   Surpili MJ, Delben TM and Kobarg J.
  TITLE     Identification of proteins that interact with the central
            coiled-coil region of the human protein kinase NEK1
  JOURNAL   Biochemistry 42 (51), 15369-15376 (2003)
   PUBMED   14690447
  REMARK    GeneRIF: Mapping studies of NEK1 regulatory domain indicate
            interaction with most of the proteins known to take part in
            etiology of polycystic kidney disease, in double-strand DNA break
            repair at the G2/M cell-cycle transition phase, or in neural cell
            development.
REFERENCE   7  (residues 1 to 1241)
  AUTHORS   Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH,
            Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT and Old
            LJ.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
REFERENCE   8  (residues 1 to 1241)
  AUTHORS   Schultz SJ and Nigg EA.
  TITLE     Identification of 21 novel human protein kinases, including 3
            members of a family related to the cell cycle regulator nimA of
            Aspergillus nidulans
  JOURNAL   Cell Growth Differ 4 (10), 821-830 (1993)
   PUBMED   8274451
REFERENCE   9  (residues 1 to 1241)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301623
REFERENCE   10 (residues 1 to 1241)
  AUTHORS   Letwin K, Mizzen L, Motro B, Ben-David Y, Bernstein A and Pawson T.
  TITLE     A mammalian dual specificity protein kinase, Nek1, is related to
            the NIMA cell cycle regulator and highly expressed in meiotic germ
            cells
  JOURNAL   EMBO J 11 (10), 3521-3531 (1992)
   PUBMED   1382974
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC084724.6, AC116621.8 and
            AC116615.5.
            
            Summary: The protein encoded by this gene is a serine/threonine
            kinase involved in cell cycle regulation. The encoded protein is
            found in a centrosomal complex with FEZ1, a neuronal protein that
            plays a role in axonal development. Defects in this gene are a
            cause of polycystic kidney disease (PKD). Several transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.61794.1,
                                           SRR1660805.147357.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1241
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q33"
     Protein         1..1241
                     /product="serine/threonine-protein kinase Nek1 isoform 6"
                     /EC_number="2.7.11.1"
                     /note="serine/threonine-protein kinase Nek1;
                     protein-serine/threonine kinase; nimA-related protein
                     kinase 1; renal carcinoma antigen NY-REN-55; never in
                     mitosis A-related kinase 1; NIMA (never in mitosis gene
                     a)-related kinase 1"
                     /calculated_mol_wt=140597
     Region          3..258
                     /region_name="STKc_Nek1"
                     /note="Catalytic domain of the Protein Serine/Threonine
                     Kinase, Never In Mitosis gene A (NIMA)-related kinase 1;
                     cd08218"
                     /db_xref="CDD:270858"
     Site            order(10..14,18,31,33,64,80..83,87,89,128,130,132..133,
                     135,146,149,151,165..168)
                     /site_type="active"
                     /db_xref="CDD:270858"
     Site            order(10..11,13..14,18,31,33,64,81..83,87,133,135,151)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270858"
     Site            order(14,87,89,128,130,132,149,165..168)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270858"
     Site            145..168
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270858"
     Site            156
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96PY6.2)"
     Site            162
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (Q96PY6.2)"
     Region          330..360
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PY6.2)"
     Site            397
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q96PY6.2)"
     Site            401
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q96PY6.2)"
     Site            411
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96PY6.2)"
     Site            421
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P51954; propagated from
                     UniProtKB/Swiss-Prot (Q96PY6.2)"
     Region          561..583
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PY6.2)"
     Region          631..652
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PY6.2)"
     Site            636
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q96PY6.2)"
     Site            644
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96PY6.2)"
     Site            647
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96PY6.2)"
     Region          668..687
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PY6.2)"
     Site            781
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q96PY6.2)"
     Site            817
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q96PY6.2)"
     Site            851
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96PY6.2)"
     Site            864
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96PY6.2)"
     Site            1035
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96PY6.2)"
     Region          1101..1154
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PY6.2)"
     Site            1109
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P51954; propagated from
                     UniProtKB/Swiss-Prot (Q96PY6.2)"
     CDS             1..1241
                     /gene="NEK1"
                     /gene_synonym="ALS24; NY-REN-55; SRPS2; SRPS2A; SRTD6"
                     /coded_by="NM_001374420.1:535..4260"
                     /note="isoform 6 is encoded by transcript variant 8"
                     /db_xref="GeneID:4750"
                     /db_xref="HGNC:HGNC:7744"
                     /db_xref="MIM:604588"
ORIGIN      
        1 mekyvrlqki gegsfgkail vkstedgrqy vikeinisrm sskereesrr evavlanmkh
       61 pnivqyresf eengslyivm dyceggdlfk rinaqkgvlf qedqildwfv qiclalkhvh
      121 drkilhrdik sqnifltkdg tvqlgdfgia rvlnstvela rtcigtpyyl speicenkpy
      181 nnksdiwalg cvlyelctlk hafeagsmkn lvlkiisgsf ppvslhysyd lrslvsqlfk
      241 rnprdrpsvn silekgfiak riekflspql iaeefclktf skfgsqpipa krpasgqnsi
      301 svmpaqkitk paakygipla ykkygdkklh ekkplqkhkq ahqtpekrvn tgeerrkise
      361 eaarkrrlef iekekkqkdq lerinrareq gwrnvlsagg sgevkapflg sggtiapssf
      421 ssrgqyehyh aifdqmqqqr aedneakwkr eiygrglper gilpgvrpgf pygaaghhhf
      481 pdaddirktl krlkavskqa nanrqkgqla verakqveef lqrkreamqn karaeghmvy
      541 larlrqirlq nfnerqqika klrgekkean hsegqegsee admrrkkies lkahanaraa
      601 vlkeqlerkr keayerekkv weehlvakgv kssdvspplg qhetggspsk qqmrsvisvt
      661 salkevgvds sltdtretse emqktnnais skreilrrln enlkaqedek gkqnlsdtfe
      721 invhedakeh ekeksvssdr kkweaggqlv ipldeltldt sfstterhtv geviklgpng
      781 sprrawgksp tdsvlkilge aelqlqtell enttirseis pegekykpli tgekkvqcis
      841 heinpsaivd spvetkspef seaspqmslk legnleepdd leteilqeps gtnkdeslpc
      901 titdvwisee ketketqsad ritiqenevs edgvsstvdq lsdihiepgt ndsqhskcdv
      961 dksvqpepff hkvvhsehln lvpqvqsvqc speesfafrs hshlppknkn knslliglst
     1021 glfdannpkm lrtcslpdls klfrtlmdvp tvgdvrqdnl eideiedeni kegpsdsedi
     1081 vfeetdtdlq elqasmeqll reqpgeeyse eeesvlknsd veptangtdv adeddnpsse
     1141 salneewhsd nsdgeiasec ecdsvfnhle elrlhleqem gfekffevye kikaiheded
     1201 enieicskiv qnilgnehqh lyakilhlvm adgayqednd e
//
LOCUS       NP_001028196             443 aa            linear   PRI 18-MAR-2023
DEFINITION  F-box only protein 7 isoform 2 [Homo sapiens].
ACCESSION   NP_001028196
VERSION     NP_001028196.1
DBSOURCE    REFSEQ: accession NM_001033024.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 443)
  AUTHORS   Zhong Y, Li J, Ye M and Jin X.
  TITLE     The characteristics of FBXO7 and its role in human diseases
  JOURNAL   Gene 851, 146972 (2023)
   PUBMED   36261086
  REMARK    GeneRIF: The characteristics of FBXO7 and its role in human
            diseases.
            Review article
REFERENCE   2  (residues 1 to 443)
  AUTHORS   Lee SH, Lee YJ, Jung S and Chung KC.
  TITLE     E3 ligase adaptor FBXO7 contributes to ubiquitination and
            proteasomal degradation of SIRT7 and promotes cell death in
            response to hydrogen peroxide
  JOURNAL   J Biol Chem 299 (3), 102909 (2023)
   PUBMED   36646384
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   3  (residues 1 to 443)
  AUTHORS   Keller Sarmiento IJ, Afshari M, Kinsley L, Silani V, Akhtar RS,
            Simuni T, Lubbe SJ, Krainc D and Mencacci NE.
  TITLE     Novel bi-allelic FBXO7 variants in a family with early-onset
            typical Parkinson's disease
  JOURNAL   Parkinsonism Relat Disord 104, 88-90 (2022)
   PUBMED   36274328
  REMARK    GeneRIF: Novel bi-allelic FBXO7 variants in a family with
            early-onset typical Parkinson's disease.
REFERENCE   4  (residues 1 to 443)
  AUTHORS   Harris R, Yang M, Schmidt C, Royet C, Singh S, Natarajan A, Morris
            M, Frezza C and Laman H.
  TITLE     Fbxo7 promotes Cdk6 activity to inhibit PFKP and glycolysis in T
            cells
  JOURNAL   J Cell Biol 221 (7) (2022)
   PUBMED   35670764
  REMARK    GeneRIF: Fbxo7 promotes Cdk6 activity to inhibit PFKP and
            glycolysis in T cells.
REFERENCE   5  (residues 1 to 443)
  AUTHORS   Shen JZ, Qiu Z, Wu Q, Zhang G, Harris R, Sun D, Rantala J, Barshop
            WD, Zhao L, Lv D, Won KA, Wohlschlegel J, Sangfelt O, Laman H, Rich
            JN and Spruck C.
  TITLE     A FBXO7/EYA2-SCFFBXW7 axis promotes AXL-mediated maintenance of
            mesenchymal and immune evasion phenotypes of cancer cells
  JOURNAL   Mol Cell 82 (6), 1123-1139 (2022)
   PUBMED   35182481
  REMARK    GeneRIF: A FBXO7/EYA2-SCF(FBXW7) axis promotes AXL-mediated
            maintenance of mesenchymal and immune evasion phenotypes of cancer
            cells.
REFERENCE   6  (residues 1 to 443)
  AUTHORS   Ilyin GP, Rialland M, Pigeon C and Guguen-Guillouzo C.
  TITLE     cDNA cloning and expression analysis of new members of the
            mammalian F-box protein family
  JOURNAL   Genomics 67 (1), 40-47 (2000)
   PUBMED   10945468
REFERENCE   7  (residues 1 to 443)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   8  (residues 1 to 443)
  AUTHORS   Winston JT, Koepp DM, Zhu C, Elledge SJ and Harper JW.
  TITLE     A family of mammalian F-box proteins
  JOURNAL   Curr Biol 9 (20), 1180-1182 (1999)
   PUBMED   10531037
REFERENCE   9  (residues 1 to 443)
  AUTHORS   Cenciarelli C, Chiaur DS, Guardavaccaro D, Parks W, Vidal M and
            Pagano M.
  TITLE     Identification of a family of human F-box proteins
  JOURNAL   Curr Biol 9 (20), 1177-1179 (1999)
   PUBMED   10531035
REFERENCE   10 (residues 1 to 443)
  AUTHORS   Cook Shukla,L., Schulze,J., Farlow,J., Pankratz,N.D., Wojcieszek,J.
            and Foroud,T.
  TITLE     Parkinson Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301402
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI821903.1, BQ326686.1,
            BX409547.2 and AL050254.1.
            
            Summary: This gene encodes a member of the F-box protein family
            which is characterized by an approximately 40 amino acid motif, the
            F-box. The F-box proteins constitute one of the four subunits of
            the ubiquitin protein ligase complex called SCFs
            (SKP1-cullin-F-box), which function in phosphorylation-dependent
            ubiquitination. The F-box proteins are divided into 3 classes: Fbws
            containing WD-40 domains, Fbls containing leucine-rich repeats, and
            Fbxs containing either different protein-protein interaction
            modules or no recognizable motifs. The protein encoded by this gene
            belongs to the Fbxs class and it may play a role in regulation of
            hematopoiesis. Alternatively spliced transcript variants of this
            gene have been identified with the full-length natures of only some
            variants being determined. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) contains a different 5' UTR
            and 5' coding region, compared to variant 1. This results in a
            shorter protein (isoform 2) with a distinct N- terminus, compared
            to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK297841.1, SRR11853566.18641.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..443
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     Protein         1..443
                     /product="F-box only protein 7 isoform 2"
                     /note="F-box only protein 7"
                     /calculated_mol_wt=49227
     Region          110..238
                     /region_name="PI31_Prot_N"
                     /note="PI31 proteasome regulator N-terminal; pfam11566"
                     /db_xref="CDD:431936"
     Region          253..297
                     /region_name="F-box_FBXO7"
                     /note="F-box domain found in F-box only protein 7 (FBXO7)
                     and similar proteins; cd22087"
                     /db_xref="CDD:438859"
     Site            order(256,260,263..264,267..268,272,274..275,279..281,283)
                     /site_type="other"
                     /note="putative Skp1 binding site [polypeptide binding]"
                     /db_xref="CDD:438859"
     Region          <352..441
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..443
                     /gene="FBXO7"
                     /gene_synonym="FBX; FBX07; FBX7; PARK15; PKPS"
                     /coded_by="NM_001033024.2:95..1426"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS46695.1"
                     /db_xref="GeneID:25793"
                     /db_xref="HGNC:HGNC:13586"
                     /db_xref="MIM:605648"
ORIGIN      
        1 marppggsgp lldsehsslq nneqpslats snqtsmqdeq psdsfqgqaa qsgvwnddsm
       61 lgpsqnfeae siqdnahmae gtgfypsepm lcsesvegqv phsletlyqs adcsdandal
      121 ivlihllmle sgyipqgtea kalsmpekwk lsgvyklqym hplcegssat ltcvplgnli
      181 vvnatlkinn eirsvkrlql lpesfickek lgenvaniyk dlqklsrlfk dqlvypllaf
      241 trqalnlpdv fglvvlplel klrifrlldv rsvlslsavc rdlftasndp llwrflylrd
      301 frdntvrvqd tdwkelyrkr hiqrkespkg rfvmllpsst htipfypnpl hprpfpssrl
      361 ppgiiggeyd qrptlpyvgd pisslipgpg etpsqfpplr prfdpvgplp gpnpilpgrg
      421 gpndrfpfrp srgrptdgrl sfm
//
LOCUS       NP_001364229             457 aa            linear   PRI 18-MAR-2023
DEFINITION  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2,
            mitochondrial isoform 2 precursor [Homo sapiens].
ACCESSION   NP_001364229
VERSION     NP_001364229.1
DBSOURCE    REFSEQ: accession NM_001377300.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 457)
  AUTHORS   Bandara AB, Drake JC, James CC, Smyth JW and Brown DA.
  TITLE     Complex I protein NDUFS2 is vital for growth, ROS generation,
            membrane integrity, apoptosis, and mitochondrial energetics
  JOURNAL   Mitochondrion 58, 160-168 (2021)
   PUBMED   33744462
  REMARK    GeneRIF: Complex I protein NDUFS2 is vital for growth, ROS
            generation, membrane integrity, apoptosis, and mitochondrial
            energetics.
REFERENCE   2  (residues 1 to 457)
  AUTHORS   Sharanek A, Burban A, Laaper M, Heckel E, Joyal JS, Soleimani VD
            and Jahani-Asl A.
  TITLE     OSMR controls glioma stem cell respiration and confers resistance
            of glioblastoma to ionizing radiation
  JOURNAL   Nat Commun 11 (1), 4116 (2020)
   PUBMED   32807793
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 457)
  AUTHORS   Dunham-Snary KJ, Wu D, Potus F, Sykes EA, Mewburn JD, Charles RL,
            Eaton P, Sultanian RA and Archer SL.
  TITLE     Ndufs2, a Core Subunit of Mitochondrial Complex I, Is Essential for
            Acute Oxygen-Sensing and Hypoxic Pulmonary Vasoconstriction
  JOURNAL   Circ Res 124 (12), 1727-1746 (2019)
   PUBMED   30922174
REFERENCE   4  (residues 1 to 457)
  AUTHORS   Liu L, Qi L, Knifley T, Piecoro DW, Rychahou P, Liu J, Mitov MI,
            Martin J, Wang C, Wu J, Weiss HL, Butterfield DA, Evers BM,
            O'Connor KL and Chen M.
  TITLE     S100A4 alters metabolism and promotes invasion of lung cancer cells
            by up-regulating mitochondrial complex I protein NDUFS2
  JOURNAL   J Biol Chem 294 (18), 7516-7527 (2019)
   PUBMED   30885944
  REMARK    GeneRIF: findings uncover a novel S100A4 function and highlight its
            importance in controlling NDUFS2 expression to regulate the
            plasticity of mitochondrial metabolism and thereby promote the
            invasive and metastatic capacity in lung cancer
REFERENCE   5  (residues 1 to 457)
  AUTHORS   Signes A and Fernandez-Vizarra E.
  TITLE     Assembly of mammalian oxidative phosphorylation complexes I-V and
            supercomplexes
  JOURNAL   Essays Biochem 62 (3), 255-270 (2018)
   PUBMED   30030361
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 457)
  AUTHORS   Loeffen J, van den Heuvel L, Smeets R, Triepels R, Sengers R,
            Trijbels F and Smeitink J.
  TITLE     cDNA sequence and chromosomal localization of the remaining three
            human nuclear encoded iron sulphur protein (IP) subunits of complex
            I: the human IP fraction is completed
  JOURNAL   Biochem Biophys Res Commun 247 (3), 751-758 (1998)
   PUBMED   9647766
REFERENCE   7  (residues 1 to 457)
  AUTHORS   Procaccio V, de Sury R, Martinez P, Depetris D, Rabilloud T,
            Soularue P, Lunardi J and Issartel J.
  TITLE     Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa
            subunit of the mitochondrial respiratory Complex I and
            immunodetection of the mature protein in mitochondria
  JOURNAL   Mamm Genome 9 (6), 482-484 (1998)
   PUBMED   9585441
REFERENCE   8  (residues 1 to 457)
  AUTHORS   Gress TM, Muller-Pillasch F, Geng M, Zimmerhackl F, Zehetner G,
            Friess H, Buchler M, Adler G and Lehrach H.
  TITLE     A pancreatic cancer-specific expression profile
  JOURNAL   Oncogene 13 (8), 1819-1830 (1996)
   PUBMED   8895530
REFERENCE   9  (residues 1 to 457)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26425749
REFERENCE   10 (residues 1 to 457)
  AUTHORS   Fearnley IM, Finel M, Skehel JM and Walker JE.
  TITLE     NADH:ubiquinone oxidoreductase from bovine heart mitochondria. cDNA
            sequences of the import precursors of the nuclear-encoded 39 kDa
            and 42 kDa subunits
  JOURNAL   Biochem J 278 (Pt 3) (Pt 3), 821-829 (1991)
   PUBMED   1832859
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590714.27.
            
            Summary: The protein encoded by this gene is a core subunit of the
            mitochondrial membrane respiratory chain NADH dehydrogenase
            (complex I). Mammalian mitochondrial complex I is composed of at
            least 43 different subunits, 7 of which are encoded by the
            mitochondrial genome, and the rest are the products of nuclear
            genes. The iron-sulfur protein fraction of complex I is made up of
            7 subunits, including this gene product. Complex I catalyzes the
            NADH oxidation with concomitant ubiquinone reduction and proton
            ejection out of the mitochondria. Mutations in this gene are
            associated with mitochondrial complex I deficiency. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene.[provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (5), as well as variants 2, 6, and
            7, encodes isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.595580.1,
                                           SRR1803611.6646.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..457
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     Protein         1..457
                     /product="NADH dehydrogenase [ubiquinone] iron-sulfur
                     protein 2, mitochondrial isoform 2 precursor"
                     /EC_number="7.1.1.2"
                     /note="complex I 49kDa subunit; NADH dehydrogenase
                     [ubiquinone] iron-sulfur protein 2, mitochondrial; complex
                     1, mitochondrial respiratory chain, 49-KD subunit;
                     NADH-ubiquinone oxidoreductase NDUFS2 subunit; CI-49kD;
                     NADH-ubiquinone oxidoreductase 49 kDa subunit; NADH
                     dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa
                     (NADH-coenzyme Q reductase)"
                     /calculated_mol_wt=48480
     transit_peptide 1..33
                     /calculated_mol_wt=3390
     mat_peptide     34..457
                     /product="NADH dehydrogenase [ubiquinone] iron-sulfur
                     protein 2, mitochondrial isoform 2"
                     /calculated_mol_wt=48480
     Site            62
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q91WD5; propagated from
                     UniProtKB/Swiss-Prot (O75306.2)"
     Region          77..457
                     /region_name="PRK06075"
                     /note="NADH-quinone oxidoreductase subunit D"
                     /db_xref="CDD:180385"
     Site            118
                     /site_type="methylation"
                     /note="Symmetric dimethylarginine.
                     /evidence=ECO:0000269|PubMed:24089531,
                     ECO:0000269|PubMed:24838397; propagated from
                     UniProtKB/Swiss-Prot (O75306.2)"
     CDS             1..457
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; MC1DN6"
                     /coded_by="NM_001377300.1:311..1684"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 5"
                     /db_xref="CCDS:CCDS53404.1"
                     /db_xref="GeneID:4720"
                     /db_xref="HGNC:HGNC:7708"
                     /db_xref="MIM:602985"
ORIGIN      
        1 maalralcgf rgvaaqvlrp gagvrlpiqp srgvrqwqpd vewaqqfgga vmypsketah
       61 wkpppwndvd ppkdtivkni tlnfgpqhpa ahgvlrlvme lsgemvrkcd phigllhrgt
      121 eklieyktyl qalpyfdrld yvsmmcneqa yslaveklln irpppraqwi rvlfgeitrl
      181 lnhimavtth aldlgamtpf fwlfeerekm fefyervsga rmhaayirpg gvhqdlplgl
      241 mddiyqfskn fslrldelee lltnnriwrn rtidigvvta eealnygfsg vmlrgsgiqw
      301 dlrktqpydv ydqvefdvpv gsrgdcydry lcrveemrqs lriiaqclnk mppgeikvdd
      361 akvsppkrae mktsmeslih hfklytegyq vppgatytai eapkgefgvy lvsdgssrpy
      421 rckikapgfa hlagldkmsk ghmladvvai igtrpiv
//
LOCUS       NP_001116847             136 aa            linear   PRI 19-MAR-2023
DEFINITION  histone H3.2 [Homo sapiens].
ACCESSION   NP_001116847 XP_497711
VERSION     NP_001116847.1
DBSOURCE    REFSEQ: accession NM_001123375.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 136)
  AUTHORS   Hammond CM, Bao H, Hendriks IA, Carraro M, Garcia-Nieto A, Liu Y,
            Reveron-Gomez N, Spanos C, Chen L, Rappsilber J, Nielsen ML, Patel
            DJ, Huang H and Groth A.
  TITLE     DNAJC9 integrates heat shock molecular chaperones into the histone
            chaperone network
  JOURNAL   Mol Cell 81 (12), 2533-2548 (2021)
   PUBMED   33857403
REFERENCE   2  (residues 1 to 136)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 136)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 136)
  AUTHORS   Kujirai T and Kurumizaka H.
  TITLE     Transcription through the nucleosome
  JOURNAL   Curr Opin Struct Biol 61, 42-49 (2020)
   PUBMED   31790919
  REMARK    Review article
REFERENCE   5  (residues 1 to 136)
  AUTHORS   Fasci D, van Ingen H, Scheltema RA and Heck AJR.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   6  (residues 1 to 136)
  AUTHORS   Ruthenburg AJ, Li H, Milne TA, Dewell S, McGinty RK, Yuen M,
            Ueberheide B, Dou Y, Muir TW, Patel DJ and Allis CD.
  TITLE     Recognition of a mononucleosomal histone modification pattern by
            BPTF via multivalent interactions
  JOURNAL   Cell 145 (5), 692-706 (2011)
   PUBMED   21596426
REFERENCE   7  (residues 1 to 136)
  AUTHORS   Buschow SI, van Balkom BW, Aalberts M, Heck AJ, Wauben M and
            Stoorvogel W.
  TITLE     MHC class II-associated proteins in B-cell exosomes and potential
            functional implications for exosome biogenesis
  JOURNAL   Immunol Cell Biol 88 (8), 851-856 (2010)
   PUBMED   20458337
REFERENCE   8  (residues 1 to 136)
  AUTHORS   Bruston F, Delbarre E, Ostlund C, Worman HJ, Buendia B and
            Duband-Goulet I.
  TITLE     Loss of a DNA binding site within the tail of prelamin A
            contributes to altered heterochromatin anchorage by progerin
  JOURNAL   FEBS Lett 584 (14), 2999-3004 (2010)
   PUBMED   20580717
REFERENCE   9  (residues 1 to 136)
  AUTHORS   Gonzalez-Begne M, Lu B, Han X, Hagen FK, Hand AR, Melvin JE and
            Yates JR.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   10 (residues 1 to 136)
  AUTHORS   Marzluff WF, Gongidi P, Woods KR, Jin J and Maltais LJ.
  TITLE     The human and mouse replication-dependent histone genes
  JOURNAL   Genomics 80 (5), 487-498 (2002)
   PUBMED   12408966
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC239868.2.
            On Apr 16, 2008 this sequence version replaced XP_497711.3.
            
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. Two molecules of each of the four core histones (H2A,
            H2B, H3, and H4) form an octamer, around which approximately 146 bp
            of DNA is wrapped in repeating units, called nucleosomes. The
            linker histone, H1, interacts with linker DNA between nucleosomes
            and functions in the compaction of chromatin into higher order
            structures. This gene is intronless and encodes a
            replication-dependent histone that is a member of the histone H3
            family. [provided by RefSeq, Aug 2015].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match            :: ENST00000331491.2/
                                             ENSP00000333277.2
            RefSeq Select criteria        :: based on single protein-coding
                                             transcript
            replication-dependent histone :: PMID: 12408966
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..136
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     Protein         1..136
                     /product="histone H3.2"
                     /note="histone 2, H3d; histone cluster 2, H3d; histone
                     cluster 2 H3 family member d; H3-clustered histone 14;
                     H3-clustered histone 15"
                     /calculated_mol_wt=15257
     Region          1..136
                     /region_name="PTZ00018"
                     /note="histone H3; Provisional"
                     /db_xref="CDD:185400"
     Region          1..43
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            3
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, by PRMT6, alternate.
                     /evidence=ECO:0000269|PubMed:17898714,
                     ECO:0000269|PubMed:18077460, ECO:0000269|PubMed:18079182;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            4
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by HASPIN.
                     /evidence=ECO:0000269|PubMed:15681610,
                     ECO:0000269|PubMed:16185088; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            5
                     /site_type="methylation"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; N6,N6-dimethyllysine,
                     alternate. /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            5
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            7
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PKC.
                     /evidence=ECO:0000269|PubMed:20228790; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            9
                     /site_type="methylation"
                     /note="Symmetric dimethylarginine, by PRMT5, alternate.
                     /evidence=ECO:0000250|UniProtKB:P84228; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            10
                     /site_type="methylation"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:11242053,
                     ECO:0000269|PubMed:16185088, ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; N6,N6-dimethyllysine,
                     alternate. /evidence=ECO:0000269|PubMed:11242053,
                     ECO:0000269|PubMed:16185088, ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:11242053,
                     ECO:0000269|PubMed:16185088, ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            10
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16497732,
                     ECO:0000269|PubMed:16627869, ECO:0000269|PubMed:17194708;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            11
                     /site_type="phosphorylation"
                     /note="Phosphoserine, alternate, by AURKB, AURKC, RPS6KA3,
                     RPS6KA4 and RPS6KA5.
                     /evidence=ECO:0000269|PubMed:10464286,
                     ECO:0000269|PubMed:11856369, ECO:0000269|PubMed:12560483,
                     ECO:0000269|PubMed:15681610, ECO:0000269|PubMed:16185088;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            12
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PKC.
                     /evidence=ECO:0000269|PubMed:12560483,
                     ECO:0000269|PubMed:18066052, ECO:0000269|PubMed:22901803;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            15
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16497732,
                     ECO:0000269|PubMed:16627869, ECO:0000269|PubMed:17194708;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            18
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, by CARM1, alternate.
                     /evidence=ECO:0000269|PubMed:15345777,
                     ECO:0000269|PubMed:15471871, ECO:0000269|PubMed:16497732;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            19
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:16627869, ECO:0000269|PubMed:17194708,
                     ECO:0000269|PubMed:35939806; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            19
                     /site_type="methylation"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            24
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:16627869, ECO:0000269|PubMed:17194708;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            24
                     /site_type="methylation"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            28
                     /site_type="methylation"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; N6,N6-dimethyllysine,
                     alternate. /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            28
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:16627869, ECO:0000269|PubMed:17194708;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            29
                     /site_type="phosphorylation"
                     /note="Phosphoserine, alternate, by AURKB, AURKC and
                     RPS6KA5. /evidence=ECO:0000269|PubMed:10464286,
                     ECO:0000269|PubMed:11856369, ECO:0000269|PubMed:15681610,
                     ECO:0000269|PubMed:15684425, ECO:0000269|PubMed:16185088;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            37
                     /site_type="methylation"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; N6,N6-dimethyllysine,
                     alternate. /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            37
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17189264,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            38
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            42
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:19783980; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            57
                     /site_type="methylation"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17194708,
                     ECO:0000269|PubMed:22387026; N6-methyllysine, by EHMT2,
                     alternate. /evidence=ECO:0000269|PubMed:17194708,
                     ECO:0000269|PubMed:22387026; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            57
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            58
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:20850016; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            65
                     /site_type="methylation"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            80
                     /site_type="methylation"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P84228;
                     N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:15525939,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:15525939,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            80
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            81
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:20850016; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            87
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P84243; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            108
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            116
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:19520870; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            123
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:19520870,
                     ECO:0000269|PubMed:23415232; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     Site            123
                     /site_type="methylation"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3)"
     CDS             1..136
                     /gene="H3C13"
                     /gene_synonym="H3C14; H3C15; HIST2H3D"
                     /coded_by="NM_001123375.3:13..423"
                     /db_xref="CCDS:CCDS41388.1"
                     /db_xref="GeneID:653604"
                     /db_xref="HGNC:HGNC:25311"
ORIGIN      
        1 martkqtark stggkaprkq latkaarksa patggvkkph ryrpgtvalr eirryqkste
       61 llirklpfqr lvreiaqdfk tdlrfqssav malqeaseay lvglfedtnl caihakrvti
      121 mpkdiqlarr irgera
//
LOCUS       XP_047276902             258 aa            linear   PRI 20-MAR-2023
DEFINITION  tetraspanin-1 isoform X1 [Homo sapiens].
ACCESSION   XP_047276902
VERSION     XP_047276902.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420946.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..258
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..258
                     /product="tetraspanin-1 isoform X1"
                     /calculated_mol_wt=28147
     Region          7..214
                     /region_name="Tetraspannin"
                     /note="Tetraspanin family; pfam00335"
                     /db_xref="CDD:425616"
     CDS             1..258
                     /gene="TSPAN1"
                     /gene_synonym="NET1; TM4C; TM4SF"
                     /coded_by="XM_047420946.1:676..1452"
                     /db_xref="GeneID:10103"
                     /db_xref="HGNC:HGNC:20657"
                     /db_xref="MIM:613170"
ORIGIN      
        1 mqcfsfiktm milfnllifl cgaallavgi wvsidgasfl kifgplsssa mqfvnvgyfl
       61 iaagvvvfal gflgcygakt eskcalvtff filllifiae vaaavvalvy ttmaehfltl
      121 lvvpaikkdy gsqedftqvw nttmkglkcc gftnytdfed spyfkensaf ppfccndnvt
      181 ntanetctkq kahdqkvegc fnqllydirt navtvggvaa giggleffsn sarrpplpes
      241 lystpirrdh vflqpspp
//
LOCUS       XP_011538875             761 aa            linear   PRI 20-MAR-2023
DEFINITION  deubiquitinase MYSM1 isoform X2 [Homo sapiens].
ACCESSION   XP_011538875
VERSION     XP_011538875.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011540573.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..761
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..761
                     /product="deubiquitinase MYSM1 isoform X2"
                     /calculated_mol_wt=87733
     Region          52..96
                     /region_name="Myb_DNA-binding"
                     /note="Myb-like DNA-binding domain; pfam00249"
                     /db_xref="CDD:425555"
     Site            order(54,83..84,86..87,89..91,93..95)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238096"
     Region          315..394
                     /region_name="SWIRM"
                     /note="SWIRM domain; pfam04433"
                     /db_xref="CDD:427945"
     Region          504..686
                     /region_name="MPN_2A_DUB"
                     /note="Mov34/MPN/PAD-1 family: Histone H2A deubiquitinase;
                     cd08067"
                     /db_xref="CDD:163698"
     Site            order(530,589,591,599,602)
                     /site_type="active"
                     /note="MPN+ (JAMM) motif [active]"
                     /db_xref="CDD:163698"
     Site            order(589,591,602)
                     /site_type="other"
                     /note="Zinc-binding site [ion binding]"
                     /db_xref="CDD:163698"
     CDS             1..761
                     /gene="MYSM1"
                     /gene_synonym="2A-DUB; 2ADUB; BMFS4"
                     /coded_by="XM_011540573.4:262..2547"
                     /db_xref="GeneID:114803"
                     /db_xref="HGNC:HGNC:29401"
                     /db_xref="MIM:612176"
ORIGIN      
        1 mlleeeyyls kksqpekvwl dqkeddkkym kslqktakim vhsptkpasy svkwtieeke
       61 lfeqglakfg rrwtkiskli gsrtvlqvks yarqyfknkv kcgldketpn qktghnlqvk
      121 nedkgtkawt psclrgradp nlnavkiekl sddeevditd evdelssqtp qknsssdlll
      181 dfpnskmhet nqgefitsds qealfskssr gclqnekqde tlssseitlw tekqsngdkk
      241 sielndqkfn elikncnkhd grgiivdarq lpspepceiq knlndnemlf hscqmveesh
      301 eeeelkppeq eieidrniiq eeekqaipef fegrqaktpe rylkirnyil dqweickpky
      361 lnktsvrpgl kncgdvncig rihtylelig ainfgceqav ynrpqtvdkv rirdrkdave
      421 ayqlaqrlqs mrtrrrrvrd pwgnwcdakd legqtfehls aeelakrree ekgrpvkslk
      481 vprptkssfd pfqlipcnff seekqepfqv kvaseallim dlhahvsmae vigllggrys
      541 evdkvvevca aepcnslstg lqcemdpvsq tqasetlavr gfsvigwyhs hpafdpnpsl
      601 rdidtqakyq syfsrggakf igmivspynr nnplpysqit clviseeisp dgsyrlpykf
      661 evqqmleepq wglvfektrw iiekyrlshs svpmdkifrr dsdltclqkl lecmrktlsk
      721 vtncfmaeef lteienlfls nyksnqengv teenctkell m
//
LOCUS       XP_047304184            1453 aa            linear   PRI 20-MAR-2023
DEFINITION  multiple epidermal growth factor-like domains protein 6 isoform X9
            [Homo sapiens].
ACCESSION   XP_047304184
VERSION     XP_047304184.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448228.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1453
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1453
                     /product="multiple epidermal growth factor-like domains
                     protein 6 isoform X9"
                     /calculated_mol_wt=151961
     Region          45..116
                     /region_name="EMI"
                     /note="EMI domain; pfam07546"
                     /db_xref="CDD:429530"
     Region          <153..199
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Region          206..242
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          267..288
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:432704"
     Region          <280..322
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     Region          335..370
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:434114"
     Region          <410..449
                     /region_name="vWFA"
                     /note="Von Willebrand factor type A (vWA) domain was
                     originally found in the blood coagulation protein von
                     Willebrand factor (vWF). Typically, the vWA domain is made
                     up of approximately 200 amino acid residues folded into a
                     classic a/b para-rossmann type of...; cl00057"
                     /db_xref="CDD:444673"
     CDS             1..1453
                     /gene="MEGF6"
                     /gene_synonym="EGFL3"
                     /coded_by="XM_047448228.1:241..4602"
                     /db_xref="GeneID:1953"
                     /db_xref="HGNC:HGNC:3232"
                     /db_xref="MIM:604266"
ORIGIN      
        1 msfleearaa gravvlalvl lllpavpvga svpprpllpl qpgmphvcae qeltlvgrrq
       61 pcvqalshtv pvwkagcgwq awcvgherrt vyymgyrqvy tteartvlrc crgwmqqpde
      121 egclsaecsa slcfhggrcv pgsaqpchcp pgfqgprcqy dvdecrthng gcqhrcvntp
      181 gsylceckpg frlhtdsrtc lainscalgn ggcqhhcvql titrhrcqcr pgfqlqedgr
      241 hcvrrspcan rngscmhrcq vvrglarcec hvgyqlaadg kacedvdeca aglaqcahgc
      301 lntqgsfkcv chagyelgad grqcyrieme ivnsceanng gcshgcshts agplctcprg
      361 yeldtdqrtc idvddcadsp ccqqvctnnp ggyecgcyag yrlsadgcgc edvdecassr
      421 ggcehhctnl agsfqcscea gyrlhedrrg cspleepmvd ldgelpfvrp lphiavlqde
      481 lpqlfqdddv gadeeeaelr gehtltekfa cppdtfgknc sfscscqngg tcdsvtgacr
      541 cppgvsgtnc edgcpkgyyg khcrkkcnca nrgrchrlyg aclcdpglyg rfchltcppw
      601 afgpgcseec qcvqphtqsc dkrdgscsck agfrgercqa ecelgyfgpg cwqactcpvg
      661 vacdsvsgec gkrcpagfqg edcgqecpvg tfgvncsssc scggapchgv tgqcrcppgr
      721 tgedceadcp egrwglgcqe icpacqhaar cdpetgaclc lpgfvgsrcq dvcpagwygp
      781 scqtrcscan dghchpatgh cscapgwtgf scqracdtgh wgpdcshpcn csaghgscda
      841 isglclceag yvgprceqqc pqghfgpgce qrcqcqhgaa cdhvsgactc pagwrgtfce
      901 hacpagffgl dcrsacncta gaacdavngs clcpagrrgp rcaetcpaht yghncsqaca
      961 cfngascdpv hgqchcapgw mgpsclqacp aglygdncrh sclcqnggtc dpvsghcacp
     1021 egwaglacek eclprdvrag crhsggclng glcdphtgrc lcpagwtgdk cqspclrgwf
     1081 geacaqrcsc ppgaachhvt gacrcppgft gsgceqgcpp grygpgceql cgclnggscd
     1141 aatgacrcpt gflgtdcnlt cpqgrfgpnc thvcgcgqga acdpvtgtcl cppgragvrc
     1201 ergcpqnrfg vgcehtcscr ngglchasng scscglgwtg rhcelacppg rygaachlec
     1261 schnnstcep atgtcrcgpg fygqacehpc ppgfhgagcq glcwcqhgap cdpisgrclc
     1321 pagfhghfce rgcepgsfge gchqrcdcdg gapcdpvtgl clcppgrsga tcnldcrrgq
     1381 fgpsctlhcd cgggadcdpv sgqchcvdgy mgptcreggp lrlpenpsla qgsagtlpas
     1441 srptsrsggp arh
//
LOCUS       XP_011539253             407 aa            linear   PRI 20-MAR-2023
DEFINITION  schlafen-like protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_011539253
VERSION     XP_011539253.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011540951.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..407
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..407
                     /product="schlafen-like protein 1 isoform X1"
                     /calculated_mol_wt=45472
     Region          221..353
                     /region_name="AlbA_2"
                     /note="Putative DNA-binding domain; pfam04326"
                     /db_xref="CDD:427869"
     CDS             1..407
                     /gene="SLFNL1"
                     /coded_by="XM_011540951.2:322..1545"
                     /db_xref="GeneID:200172"
                     /db_xref="HGNC:HGNC:26313"
ORIGIN      
        1 mtpmkrsvqt qvsepfmesw geeslpelpa eqslteysdl eeapsahtly vghlnpqfsv
       61 pvlacllrdt lerlempvar ehievvrrpr kayalvqvtv hrdtlaslpw rlqtaleehl
      121 ilkelaargk dlllseaqgp fshreekeee eedsglspgp spgsgvplpt wpthtlpdrp
      181 qaqqlqscqg rpsgvcsdsa ivhqqivgkd qlfqgaflgs etrnmefkrg sgeylslafk
      241 hhvrryvcaf lnseggsllv gvedsglvqg ircshrdedr arllvdsilq gfkpqifpda
      301 ytltfipvis tsetsvplkv irltvhtpka qsqpqlyqtd qgevflrrdg siqgplsasa
      361 iqewcrqrwl velgkleekm kalmmekeql qqqlqqhgpv sctccvl
//
LOCUS       XP_016857644             382 aa            linear   PRI 20-MAR-2023
DEFINITION  bone morphogenetic protein 8B isoform X2 [Homo sapiens].
ACCESSION   XP_016857644
VERSION     XP_016857644.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017002155.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..382
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..382
                     /product="bone morphogenetic protein 8B isoform X2"
                     /calculated_mol_wt=42790
     Region          33..226
                     /region_name="TGFb_propeptide"
                     /note="TGF-beta propeptide; pfam00688"
                     /db_xref="CDD:425823"
     Region          323..>378
                     /region_name="TGF_beta_SF"
                     /note="transforming growth factor beta (TGF-beta) like
                     domain found in TGF-beta superfamily; cl40434"
                     /db_xref="CDD:394804"
     CDS             1..382
                     /gene="BMP8B"
                     /gene_synonym="BMP8; OP2"
                     /coded_by="XM_017002155.2:381..1529"
                     /db_xref="GeneID:656"
                     /db_xref="HGNC:HGNC:1075"
                     /db_xref="MIM:602284"
ORIGIN      
        1 mtalpgplwl lglalcalgg ggpglrpppg cpqrrlgare rrdvqreila vlglpgrprp
       61 rappaasrlp asaplfmldl yhamagddde dgapaerrlg radlvmsfvn mverdralgh
      121 qephwkefrf dltqipagea vtaaefriyk vpsihllnrt lhvsmfqvvq eqsnresdlf
      181 fldlqtlrag degwlvldvt aasdcwllkr hkdlglrlyv etedgetwtg wgwtkdsrlq
      241 mwklrlsrtp wvlslhapgp aqapaerpll cllqghcpas pspirtprav rplrrrqpkk
      301 snelpqanrl pgifddvhgs hgrqvcrrhe lyvsfqdlgw ldwviapqgy sayycegecs
      361 fpldscmnat nhailqslev qr
//
LOCUS       XP_047289390            1210 aa            linear   PRI 20-MAR-2023
DEFINITION  period circadian protein homolog 3 isoform X1 [Homo sapiens].
ACCESSION   XP_047289390
VERSION     XP_047289390.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433434.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1210
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1210
                     /product="period circadian protein homolog 3 isoform X1"
                     /calculated_mol_wt=132529
     Region          285..377
                     /region_name="PAS"
                     /note="PAS domain; PAS motifs appear in archaea,
                     eubacteria and eukarya. Probably the most surprising
                     identification of a PAS domain was that in EAG-like
                     K+-channels. PAS domains have been found to bind ligands,
                     and to act as sensors for light and oxygen in...; cd00130"
                     /db_xref="CDD:238075"
     Site            order(288,292,298,311..314,343,348)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238075"
     Site            order(308,312,320,323..324,355,357)
                     /site_type="other"
                     /note="heme pocket [chemical binding]"
                     /db_xref="CDD:238075"
     Region          <756..1066
                     /region_name="Herpes_BLLF1"
                     /note="Herpes virus major outer envelope glycoprotein
                     (BLLF1); pfam05109"
                     /db_xref="CDD:282904"
     Region          <1083..1185
                     /region_name="Period_C"
                     /note="Period protein 2/3C-terminal region; pfam12114"
                     /db_xref="CDD:432341"
     CDS             1..1210
                     /gene="PER3"
                     /gene_synonym="FASPS3; GIG13"
                     /coded_by="XM_047433434.1:490..4122"
                     /db_xref="GeneID:8863"
                     /db_xref="HGNC:HGNC:8847"
                     /db_xref="MIM:603427"
ORIGIN      
        1 mprgeapgpg rrgakdealg eesgerwspe fhlqrklads shseqqdrnr vseelimvvq
       61 emkkyfpser rnkpstldal nyalrcvhsv qanseffqil sqngapqadv smysleelat
      121 iasehtsknt dtfvavfsfl sgrlvhiseq aalilnrkkd vlasshfvdl lapqdmrvfy
      181 ahtaraqlpf wnnwtqraaa ryecapvkpf fcrirggedr kqekchspfr iipylihvhh
      241 paqpelesep ccltvvekih sgyeapripv nkriftttht pgcvflevde kavpllgylp
      301 qdligtsils ylhpedrslm vaihqkvlky aghppfehsp irfctqngdy iildsswssf
      361 vnpwsrkisf iigrhkvrts plnedvfatk ikkmndndkd itelqeqiyk lllqpvhvsv
      421 ssgygslgss gsqeqlvsia ssseasghrv eetkaeqmtl qqvyasvnki knlgqqlyie
      481 smtkssfkpv tgtrtepngg gesangggec ktftsfhqtl knnsvytepc edlrndehsp
      541 syqqincids virylksyni palkrkcisc tnttssssee dkqnhkaddv qalqaglqip
      601 aipksemptn grsidtggga pqilstamls lgsgisqcgy sstivhvppp etardatlfc
      661 epwtlnmqpa pltseefkhv gltaavlsah tqkeeqnyvd kfrekilssp yssylqqesr
      721 skakysyfqg dstskqtrsa gcrkgkhkrk klpeppdsss sntgsgprrg ahqnaqpccp
      781 saassphtss ptfppaamvp sqapylvpaf plpaatspgr eyaapgtape glhglplseg
      841 lqpypafpfp yldtfmtvfl pdppvcplls psflpcpflg atassaisps mssamsptld
      901 pppsvtsqrr eeekweaqse ghpfitsrss splqlnllqe emprpsespd qmrrntcpqt
      961 eyqcvtgnng sesspattga lstgsppren pshptasals tgsppmknps hptasalstg
     1021 sppmknpshp tastlsmglp psrtpshpta tvlstgspps espsrtgsaa sgssdssiyl
     1081 tssvysskis qngqqsqdvq kketfpnvae epiwrmirqt perilmtyqv pervkevvlk
     1141 edleklesmr qqqpqfshgq keelakvynw iqsqtvtqei diqacvtcen edsadgaats
     1201 cgqvlvedsc
//
LOCUS       XP_047289805             545 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 697 isoform X1 [Homo sapiens].
ACCESSION   XP_047289805
VERSION     XP_047289805.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433849.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..545
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..545
                     /product="zinc finger protein 697 isoform X1"
                     /calculated_mol_wt=60331
     Region          191..211
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <259..429
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          263..283
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(268,270,272,274..275,278..279,282,296,298,302..303,
                     306..307,310,324,326,328,330..331,334..335)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          291..311
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          319..337
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          355..375
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(360,362,364,366..367,370..371,374,388,390,394..395,
                     398..399,402,416,418,420,422..423,426..427,430)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          <364..545
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          383..403
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          411..431
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          439..459
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(444,446,448,450..451,454..455,458,472,474,478..479,
                     482..483,486,500,502,504,506..507,510..511,514)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          467..487
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          495..515
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          523..543
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..545
                     /gene="ZNF697"
                     /coded_by="XM_047433849.1:10418..12055"
                     /db_xref="GeneID:90874"
                     /db_xref="HGNC:HGNC:32034"
ORIGIN      
        1 mkqednqgvc ahqdsedkgm gsdfedsedr egdpeeremg snphdtnkre ghpepemgsn
       61 pqdsrhreav pdictegqls eeegvsvrge eddqsgvadm amfpglsesd sisrslredd
      121 desagenrle eeeeqpappv lpwrrhlslg srhrgdkpah rrfhrlhhpm avdlgeldsl
      181 vasimdapti cpdcgesfsp gaaflqhqri hrlaeaaaaa slepfglage cdamvgmmgv
      241 gvaggfgagp plarpprekp frcgecgkgf srntyltnhl rlhtgerpnl cadcgksfsw
      301 radllkhrrl htgekpypcp ecgeafslss hllshrraha aasgagaaal rpfacgecgk
      361 gfvrrshlan hqrihtgekp hgcgecgkrf swrsdlvkhq rvhtgekpym csecgetfsv
      421 sshlfthkrt hsgerpyvcr ecgkgfgrns hlvnhlrvht gekpfrcgqc ekrfsdfstl
      481 tqhqrthtge kpytciecgk sfiqsshlir hrrihtgnkp hkcagcgkgf rykthlaqhq
      541 klhlc
//
LOCUS       XP_047283667             670 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase synoviolin isoform X1 [Homo sapiens].
ACCESSION   XP_047283667
VERSION     XP_047283667.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427711.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..670
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..670
                     /product="E3 ubiquitin-protein ligase synoviolin isoform
                     X1"
                     /calculated_mol_wt=74070
     Region          10..>333
                     /region_name="HRD1"
                     /note="HRD ubiquitin ligase complex, ER membrane component
                     [Posttranslational modification, protein turnover,
                     chaperones]; COG5243"
                     /db_xref="CDD:227568"
     CDS             1..670
                     /gene="SYVN1"
                     /gene_synonym="DER3; HRD1"
                     /coded_by="XM_047427711.1:284..2296"
                     /db_xref="GeneID:84447"
                     /db_xref="HGNC:HGNC:20738"
                     /db_xref="MIM:608046"
ORIGIN      
        1 mfrtavmmaa slaltgavva hayylkhqfy ptvvyltkss psmavlyiqa fvlvfllgkv
       61 mgkvffgqlr aaemehller swyavtetcl aftvfrddfs prfvalftll lflkcfhwla
      121 edrvdfmers pniswlfhcr ivslmfllgi ldflfvshay hsiltrgasv qlvfgfeyai
      181 lmtmvltifi kyvlhsvdlq senpwdnkav ymlytelftg fikvllymaf mtimikvhtf
      241 plfairpmyl amrqfkkavt daimsrrair nmntlypdat peelqamdnv ciicreemvt
      301 gakrlpcnhi fhtsclrswf qrqqtcptcr mdvlraslpa qsppppepad qgpppaphpp
      361 pllpqppnfp qgllppfppg mfplwppmgp fppvppppss geavappsts aaalsrpsga
      421 atttaagtsa taasatasgp gsgsapeagp apgfpfpppw mgmplpppfa fppmpvppag
      481 fagltpeelr alegherqhl earlqslrni htlldaamlq inqyltvlas lghwghkgts
      541 fytlfckahq gqenlpnlgc qgqarlssll fpgppglplq stplrrlplq llllppppas
      601 laqrprpqpq epphqplkwk glqllsqwaq rrclrmespm qqssagaacr swslllptdt
      661 apaqpqpllf
//
LOCUS       XP_047283820             557 aa            linear   PRI 20-MAR-2023
DEFINITION  proprotein convertase subtilisin/kexin type 7 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047283820
VERSION     XP_047283820.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427864.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..557
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..557
                     /product="proprotein convertase subtilisin/kexin type 7
                     isoform X4"
                     /calculated_mol_wt=59608
     Region          53..141
                     /region_name="S8_pro-domain"
                     /note="Peptidase S8 pro-domain; pfam16470"
                     /db_xref="CDD:435357"
     Region          145..440
                     /region_name="Peptidases_S8_Protein_convertases_Kexins_Fur
                     in-lik"
                     /note="Peptidase S8 family domain in Protein convertases;
                     cd04059"
                     /db_xref="CDD:173789"
     Site            order(147,196,242)
                     /site_type="other"
                     /note="calcium binding site 1 [ion binding]"
                     /db_xref="CDD:173789"
     Site            order(187..188,225,228,270,288,298,329,340,406)
                     /site_type="active"
                     /db_xref="CDD:173789"
     Site            order(187,228,406)
                     /site_type="active"
                     /note="catalytic triad [active]"
                     /db_xref="CDD:173789"
     Site            order(335,365)
                     /site_type="other"
                     /note="calcium binding site 2 [ion binding]"
                     /db_xref="CDD:173789"
     Site            order(343,345,348,350)
                     /site_type="other"
                     /note="calcium binding site 3 [ion binding]"
                     /db_xref="CDD:173789"
     CDS             1..557
                     /gene="PCSK7"
                     /gene_synonym="LPC; PC7; PC8; SPC7"
                     /coded_by="XM_047427864.1:180..1853"
                     /db_xref="GeneID:9159"
                     /db_xref="HGNC:HGNC:8748"
                     /db_xref="MIM:604872"
ORIGIN      
        1 mpkgrqkvph ldaplglptc lwlelaglfl lvpwvmglag tggpdgqgtg gpswavhles
       61 legdgeeetl eqqadalaqa aglvnagrig elqghylfvq paghrpalev eairqqveav
      121 lagheavrwh seqrllrrak rsvhfndpky pqqwhlnnrr spgrdinvtg vwernvtgrg
      181 vtvvvvddgv ehtiqdiapn yspegsydln sndpdpmphp dvengnhhgt rcageiaavp
      241 nnsfcavgva ygsriagirv ldgpltdsme avafnkhyqi ndiyscswgp dddgktvdgp
      301 hqlgkaalqh gviagrqgfg sifvvasgng gqhndncnyd gyansiytvt igavdeegrm
      361 pfyaeecasm lavtfsggdk mlrsivttdw dlqkgtgcte ghtgtsaaap laagmialml
      421 qvrpcltwrd vqhiivftat ryedrraewv tneagfshsh qhgfgllnaw rlvnaakiwt
      481 svpylasyvs pvlkenkaip qsprslevlw ngiptasmtg psplcdaggr epegptglss
      541 gmsgmshsrs assgngs
//
LOCUS       XP_016874734             392 aa            linear   PRI 20-MAR-2023
DEFINITION  glycogen [starch] synthase, liver isoform X3 [Homo sapiens].
ACCESSION   XP_016874734
VERSION     XP_016874734.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017019245.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..392
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..392
                     /product="glycogen [starch] synthase, liver isoform X3"
                     /calculated_mol_wt=45009
     Region          33..>390
                     /region_name="Glycogen_syn"
                     /note="Glycogen synthase; pfam05693"
                     /db_xref="CDD:399009"
     CDS             1..392
                     /gene="GYS2"
                     /coded_by="XM_017019245.3:256..1434"
                     /db_xref="GeneID:2998"
                     /db_xref="HGNC:HGNC:4707"
                     /db_xref="MIM:138571"
ORIGIN      
        1 mlrgrslsvt slgglpqwev eelpveelll fevawevtnk vggiytviqt kakttadewg
       61 enyfligpyf ehnmktqveq cepvndavrr avdamnkhgc qvhfgrwlie gspyvvlfdi
      121 gysawnldrw kgdlweacsv gipyhdrean dmlifgslta wflkevtdha dgkyvvaqfh
      181 ewqagiglil srarklpiat iftthatllg rylcaanidf ynhldkfnid keagerqiyh
      241 rycmerasvh cahvfttvse itaieaehml krkpdvvtpn glnvkkfsav hefqnlhamy
      301 kariqdfvrg hfyghldfdl ektlflfiag ryefsnkgad ifleslsrln fllrmhksdi
      361 tvmvffimpa ktnnfnvetl kgqavrkqlw ls
//
LOCUS       XP_047285869             465 aa            linear   PRI 20-MAR-2023
DEFINITION  WSC domain-containing protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_047285869
VERSION     XP_047285869.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429913.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..465
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..465
                     /product="WSC domain-containing protein 2 isoform X2"
                     /calculated_mol_wt=52423
     Region          130..224
                     /region_name="WSC"
                     /note="present in yeast cell wall integrity and stress
                     response component proteins; smart00321"
                     /db_xref="CDD:214616"
     Region          <315..>407
                     /region_name="Sulfotransfer_3"
                     /note="Sulfotransferase family; cl21551"
                     /db_xref="CDD:451306"
     CDS             1..465
                     /gene="WSCD2"
                     /coded_by="XM_047429913.1:627..2024"
                     /db_xref="GeneID:9671"
                     /db_xref="HGNC:HGNC:29117"
                     /db_xref="MIM:619253"
ORIGIN      
        1 maklwfkfqr yfrrkpvrff tflalyltag slvflhsgfv gqpavsgnqa npaaaggpae
       61 gaelsflgdm hlgrgfrdtg eassiarryg pwfkgkdgne raklgdygga wsralkgrvv
      121 rekeeerdgs avfrgcfrrp dnlslalpvt aamlnmsvdk cvdfctekey plaalagtac
      181 hcgfpttrfp lhdredeqlc aqkcsaeefe scgtpsyfiv yqtqvqdnrc mdrrflpgks
      241 kqlialasfp gagntwarhl ielatgfytg syyfdgslyn kgfkgerdhw rsgrticikt
      301 hesgqkeiea fdaaillirn pykalmaefn rkygghigfa ahahwkgkew pefvrnyapw
      361 wathtldwlk fgkkvlvvhf edlkqdlfvq lgrmvsllgv avredrllcv esqkdgnfkr
      421 sglrkleydp ytadmqktis ayikmvdaal kgrnltgvpd dyypr
//
LOCUS       XP_047286398             328 aa            linear   PRI 20-MAR-2023
DEFINITION  tumor necrosis factor receptor superfamily member 19 isoform X2
            [Homo sapiens].
ACCESSION   XP_047286398
VERSION     XP_047286398.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430442.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..328
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..328
                     /product="tumor necrosis factor receptor superfamily
                     member 19 isoform X2"
                     /calculated_mol_wt=35838
     Region          33..149
                     /region_name="TNFRSF19"
                     /note="Tumor necrosis factor receptor superfamily member
                     19 (TNFRSF19), also known as TROY; cd13418"
                     /db_xref="CDD:276923"
     Region          34..72
                     /region_name="CRD1"
                     /note="CRD1 [structural motif]"
                     /db_xref="CDD:276923"
     Region          75..114
                     /region_name="CRD2"
                     /note="CRD2 [structural motif]"
                     /db_xref="CDD:276923"
     Region          117..149
                     /region_name="CRD3"
                     /note="CRD3 [structural motif]"
                     /db_xref="CDD:276923"
     CDS             1..328
                     /gene="TNFRSF19"
                     /gene_synonym="TAJ; TAJ-alpha; TRADE; TROY"
                     /coded_by="XM_047430442.1:562..1548"
                     /db_xref="GeneID:55504"
                     /db_xref="HGNC:HGNC:11915"
                     /db_xref="MIM:606122"
ORIGIN      
        1 malkvlleqe ktfftllvll gylsckvtce sgdcrqqefr drsgncvpcn qcgpgmelsk
       61 ecgfgygeda qcvtcrlhrf kedwgfqkck pcldcavvnr fqkancsats daicgdclpg
      121 fyrktklvgf qdmecvpcgd ppppyephca skvnlvkias tassprdtal aavicsalat
      181 vllallilcv iyckrqfmek kpswslrsqd iqyngselsc fdrpqlheya hraccqcrrd
      241 svqtcgpvrl lpsmcceeac spnpatlgcg vhsaaslqar klkepasfcs rsvcwnpkst
      301 pllglwteqs gpcmasgaki nlnqtdgi
//
LOCUS       XP_047288237            3004 aa            linear   PRI 20-MAR-2023
DEFINITION  MAX gene-associated protein isoform X6 [Homo sapiens].
ACCESSION   XP_047288237
VERSION     XP_047288237.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432281.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3004
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..3004
                     /product="MAX gene-associated protein isoform X6"
                     /calculated_mol_wt=329515
     Region          75..260
                     /region_name="T-box_MGA-like"
                     /note="DNA-binding domain of MAX gene-associated protein
                     and related T-box proteins; cd20195"
                     /db_xref="CDD:410321"
     Site            order(102..103,136,180,183,196..197,237..240,245,248..249,
                     252..258)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410321"
     Region          1041..1082
                     /region_name="DUF4801"
                     /note="Domain of unknown function (DUF4801); pfam16059"
                     /db_xref="CDD:435106"
     Region          1426..>1744
                     /region_name="DUF5585"
                     /note="Family of unknown function (DUF5585); pfam17823"
                     /db_xref="CDD:436069"
     Region          2364..2428
                     /region_name="bHLHzip_MGA"
                     /note="basic Helix-Loop-Helix-zipper (bHLHzip) domain
                     found in MAX gene-associated protein (MGA) and similar
                     proteins; cd18911"
                     /db_xref="CDD:381481"
     Site            order(2364,2366..2368,2370..2372,2374..2375,2379,
                     2398..2399)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381481"
     Site            order(2378,2381..2382,2384..2385,2388..2390,2400,
                     2403..2404,2407,2409..2411,2413..2414,2416..2417,2420,
                     2423..2424,2427..2428)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:381481"
     CDS             1..3004
                     /gene="MGA"
                     /gene_synonym="MAD5; MXD5"
                     /coded_by="XM_047432281.1:143..9157"
                     /db_xref="GeneID:23269"
                     /db_xref="HGNC:HGNC:14010"
                     /db_xref="MIM:616061"
ORIGIN      
        1 meekqqiila nqdggtvaga aptffvilkq pgngktdqgi lvtnqdacal assvsspvks
       61 kgkiclpadc tvggitvtld nnsmwnefyh rstemiltkq grrmfpycry witgldsnlk
      121 yilvmdispv dnhrykwngr wwepsgkaep hvlgrvfihp espstghywm hqpvsfyklk
      181 ltnntldqeg hiilhsmhry lprlhlvpae kaveviqlng pgvhtftfpq teffavtayq
      241 niqitqlkid ynpfakgfrd dglnnkpqrd gkqknssdqe gnnissssgh rvrltegqgs
      301 eiqpgdldpl srghetsgkg lektslnikr dflgfmdtds alsevpqlkq eisecliass
      361 feddsrvasp ldqngsfnvv ikeeplddyd yelgecpegv tvkqeetdee tdvysnsddd
      421 pilekqlkrh nkvdnpeadh lsskwlpssp sgvakakmfk ldtgkmpvvy lepcavtrst
      481 vkiselpdnm lstsrkdkss mlaeleylpt yiensnetaf clgkesengl rkhspdlrvv
      541 qkypllkepq wkypdisdsi sterilddsk dsvgdslsgk edlgrkrttm lkiataakvv
      601 nanqnaspnv pgkrgrprkl klckagrppk ntgkslistk ntpvspgstf pdvkpdledv
      661 dgvlfvsfes kealdihavd gtteessslq asttndsgyr arisqlekel iedlktlrhk
      721 qvihpglqev glklnsvdpt msidlkylgv qlplapatsf pfwnltgtnp aspdagfpfv
      781 srtgktndft kikgwrgkfh sasasrnegg nsesslknrs afcsdkldey lenegklmet
      841 smgfssnapt spvvyqlptk stsyvrtlds vlkkqstisp stsyslkphs vppvsrkaks
      901 qnrqatfsgr tkssyksilp ypvspkqkys hvilgdkvtk nssgiisenq annfvvptld
      961 enifpkqisl rqaqqqqqqq qgsrppglsk sqvklmdled calwegkprt yiteeradvs
     1021 lttlltaqas lktkpihtii rkrappcnnd fcrlgcvcss lalekrqpah crrpdcmfgc
     1081 tclkrkvvlv kggsktkhfq rkaahrdpvf ydtlgeeare eeegireeee qlkekkkrkk
     1141 leyticetep eqpvrhyplw vkvegevdpe pvyiptpsvi epmkplllpq pevlsptvkg
     1201 klltgikspr sytpkpnpvi reedkdpvyl yfesmmtcar vrvyerkked qrqpsssssp
     1261 spsfqqqtsc hsspenhnna kepdseqqpl kqltcdledd sdklqekswk sscnegesss
     1321 tsymhqrspg gptklieiis dcnweedrnk ilsilsqhin snmpqslkvn gksypqakll
     1381 lgqmgalhpa nrlaayitgr lrpsvldlst lstviskvas nakvaasrkp rtllpstsns
     1441 kmasssgtat nrpgknlkaf vpakrpiaar pspggvftqf vmskvgalqq kipgvstpqt
     1501 lagtqkfsir pspvmvvtpv vssepvqvcs pvtaavtttt pqvflentta vtpmtaisdv
     1561 etkettyssg atttgvvevs etntstsvts tqstatvnlt kttgittpva svafpkslva
     1621 spstitlpva stastslvvv taaasssmvt tptsslgsvp iilsgingsp pvsqrpenaa
     1681 qipvatpqvs pntvkragpr lllipvqqgs ptlrpvsntq lqghrmvlqp vrspsgmnlf
     1741 rhpngqivql lplhqlrgsn tqpnlqpvmf rnpgsvmgir lpapskpset ppsstsssaf
     1801 svmnpviqav gsssavnvit qapsllssga sfvsqagtlt lrisppepqs fasktgsetk
     1861 ityssggqpv gtasliplqs gsfallqlpg qkpvpssilq hvaslqmkre sqnpdqkdet
     1921 nsikreqetk kvlqsegeav dpeanvikqn sgaatseetl ndsledrgdh ldeeclpeeg
     1981 catvkpsehs citgshtdqd ykdvneeyga rnrksskekv avlevrtise kasnktvqnl
     2041 skvqhqklgd vkveqqkgfd npeenssefp vtfkeeskfe lsgskvmeqq snlqpeakek
     2101 ecgdslekdr erwrkhlkgp ltrkcvgasq eckkeadeql iketktcqen sdvfqqeqgi
     2161 sdllgksgit edarvlktec dswsrisnps afsivprraa kssrgnghfq ghlllpgeqi
     2221 qpkqekkggr ssadftvldl eeddeddnek tddsideivd vvsdyqseev ddveknncve
     2281 yieddeehvd ietveelsee invahlktta ahtqsfkqps cthisadeka aersrkappi
     2341 plklkpdyws dklqkeaeaf ayyrrthtan errrrgemrd lfeklkitlg llhsskvsks
     2401 liltrafsei qgltdqadkl igqknlltrk rnilirkvss lsgkteevvl kkleyiyakq
     2461 qaleaqkrkk kmgsdefdis priskqqegs sassvdlgqm finnrrgkpl ilsrkkdqat
     2521 entsplntph tsanlvmtpq gqlltlkgpl fsgpvvavsp dllesdlkpq vagsavalpe
     2581 nddlfmmpri vnvtslateg glvdmggsky phevpdskps dhlkdtvrne dnsledkgri
     2641 ssrgnrdgrv tlgptqvfla nkdsgypqiv dvsnmqkaqe flpkkisgdm rgiqykwkes
     2701 esrgervksk dssfhklkmk dlkdssieme lrkvtsaiee aaldssellt nmededdtde
     2761 tltsllneia flnqqlndds vglaelpssm dtefpgdarr afiskvppgs ratfqvehlg
     2821 tglkelpdvq gesdsispll lhledddfse nekqlaepas epdvlkivid seikdsllsn
     2881 kkaidggknt sglpaepesv sspptlhmkt glensnstdt lwrpmpklap lglkvanpss
     2941 dadgqslkvm pclapiaakv gsvghkmnlt gndqegresk vmptlapvva klgnsgasps
     3001 sagk
//
LOCUS       XP_024305732             586 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase MINDY-2 isoform X6 [Homo
            sapiens].
ACCESSION   XP_024305732
VERSION     XP_024305732.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024449964.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..586
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..586
                     /product="ubiquitin carboxyl-terminal hydrolase MINDY-2
                     isoform X6"
                     /calculated_mol_wt=62827
     Region          <19..>209
                     /region_name="PRK07003"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:235906"
     Region          279..356
                     /region_name="MINDY_DUB"
                     /note="MINDY deubiquitinase; pfam04424"
                     /db_xref="CDD:427941"
     CDS             1..586
                     /gene="MINDY2"
                     /gene_synonym="FAM63B"
                     /coded_by="XM_024449964.2:95..1855"
                     /db_xref="GeneID:54629"
                     /db_xref="HGNC:HGNC:26954"
                     /db_xref="MIM:618408"
ORIGIN      
        1 messpeslqp lehgvaagpa sgtgssqegl qetrlaagdg pgvwaaetsg gnglgaaaar
       61 rslpdsaspa gspevpgpcs ssagldlkds glespaaaea plrgqykvta spetavagvg
      121 helgtagdag arpdlagtcq aeltaagsee pssagglsss csdpsppges psldslesfs
      181 nlhsfpssce fnseegaenr vpeeeegaav lpgavplcke eegeetaqvl aaskerfpgq
      241 svyhikwiqw keentpiitq nengpcplla ilnvlllawk vklppmmeii taeqlmeylg
      301 dymldakpke iseiqrlnye qnmsdamail hklqtgldvn iddivkavgn csynqlveki
      361 isckqsdnse lvsegfvaeq flnntatqlt yhglceltst vqegelcvff rnnhfstmtk
      421 ykgqlyllvt dqgflteekv vweslhnvdg dgnfcdsefh lrppsdpetv ykgqqdqidq
      481 dylmalslqq eqqsqeinwe qipegisdle lakklqeeed rrasqyyqeq eqaaaaaaaa
      541 stqaqgqpaq aspssgrqsg nserkrkepr ekdkekekek nscvil
//
LOCUS       XP_011520467             367 aa            linear   PRI 20-MAR-2023
DEFINITION  proline-serine-threonine phosphatase-interacting protein 1 isoform
            X4 [Homo sapiens].
ACCESSION   XP_011520467
VERSION     XP_011520467.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011522165.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..367
                     /product="proline-serine-threonine phosphatase-interacting
                     protein 1 isoform X4"
                     /calculated_mol_wt=41522
     Region          <4..208
                     /region_name="BAR"
                     /note="The Bin/Amphiphysin/Rvs (BAR) domain, a
                     dimerization module that binds membranes and detects
                     membrane curvature; cl12013"
                     /db_xref="CDD:448379"
     Region          314..366
                     /region_name="SH3_PSTPIP1"
                     /note="Src homology 3 domain of Proline-Serine-Threonine
                     Phosphatase-Interacting Protein 1; cd11824"
                     /db_xref="CDD:212758"
     Site            order(319,321,324,328,346..347,360,362..363)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212758"
     CDS             1..367
                     /gene="PSTPIP1"
                     /gene_synonym="CD2BP1; CD2BP1L; CD2BP1S; H-PIP; PAPAS;
                     PSTPIP"
                     /coded_by="XM_011522165.3:211..1314"
                     /db_xref="GeneID:9051"
                     /db_xref="HGNC:HGNC:9580"
                     /db_xref="MIM:606347"
ORIGIN      
        1 mpsslrasfd slkqqmenvg sshiqlaltl reelrsleef rerqkeqrkk gmavprqsdc
       61 mevkspswey eavmdrvqks klslykkame skktyeqkcr daddaeqafe risanghqkq
      121 veksqnkarq ckdsateaer vyrqsiaqle kvraeweqeh rttceafqlq efdrltilrn
      181 alwvhsnqls mqcvkddely eevrltlegc sidadidsfi qakstgtepp apvpyqnyyd
      241 revtpltssp giqpscgmik rfsgllhgsp kttslaasaa stetltptpe rnegvytaia
      301 vqeiqgnpas paqeyralyd ytaqnpdeld lsagdilevi legedgwwtv erngqrgfvp
      361 gsylekl
//
LOCUS       XP_047289298             438 aa            linear   PRI 20-MAR-2023
DEFINITION  beta-1,3-galactosyl-O-glycosyl-glycoprotein
            beta-1,6-N-acetylglucosaminyltransferase 3 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047289298
VERSION     XP_047289298.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433342.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 9% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..438
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..438
                     /product="beta-1,3-galactosyl-O-glycosyl-glycoprotein
                     beta-1,6-N-acetylglucosaminyltransferase 3 isoform X1"
                     /calculated_mol_wt=50733
     Region          133..401
                     /region_name="Branch"
                     /note="Core-2/I-Branching enzyme; pfam02485"
                     /db_xref="CDD:426795"
     CDS             1..438
                     /gene="GCNT3"
                     /gene_synonym="C2/4GnT; C24GNT; C2GNT2; C2GNTM; GNTM"
                     /coded_by="XM_047433342.1:572..1888"
                     /db_xref="GeneID:9245"
                     /db_xref="HGNC:HGNC:4205"
                     /db_xref="MIM:606836"
ORIGIN      
        1 mvqwkrlcql hylwalgcym llatvalkls frlkcdsdhl glesresqsq ycrnilynfl
       61 klpakrsinc sgvtrgdqea vlqailnnle vkkkrepftd thylsltrdc ehfkaerkfi
      121 qfplskeeve fpiaysmvih ekienferll ravyapqniy cvhvdekspe tfkeavkaii
      181 scfpnvfias klvrvvyasw srvqadlncm edllqssvpw kyflntcgtd fpiksnaemv
      241 qalkmlngrn smesevppkh ketrwkyhfe vvrdtlhltn kkkdpppynl tmftgnayiv
      301 asrdfvqhvl knpksqqlie wvkdtyspde hlwatlqrar wmpgsvpnhp kydisdmtsi
      361 arlvkwqghe gdidkgapya pcsgihqrai cvygagdlnw mlqnhhllan kfdpkvddna
      421 lqcleeylry kaiygtel
//
LOCUS       XP_047291188            1381 aa            linear   PRI 20-MAR-2023
DEFINITION  synergin gamma isoform X13 [Homo sapiens].
ACCESSION   XP_047291188
VERSION     XP_047291188.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047435232.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1381
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1381
                     /product="synergin gamma isoform X13"
                     /calculated_mol_wt=147382
     Region          <27..149
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     Region          <115..148
                     /region_name="ARGLU"
                     /note="Arginine and glutamate-rich 1; pfam15346"
                     /db_xref="CDD:405931"
     Region          <416..467
                     /region_name="EH"
                     /note="Eps15 homology domain; found in proteins implicated
                     in endocytosis, vesicle transport, and signal
                     transduction. The alignment contains a pair of EF-hand
                     motifs, typically one of them is canonical and binds to
                     Ca2+, while the other may not bind to Ca2+. A...; cd00052"
                     /db_xref="CDD:238009"
     Site            order(425,435,439)
                     /site_type="active"
                     /note="peptide binding pocket [active]"
                     /db_xref="CDD:238009"
     Site            order(443,445,447,454)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238009"
     Region          <470..>553
                     /region_name="SAP130_C"
                     /note="Histone deacetylase complex subunit SAP130
                     C-terminus; pfam16014"
                     /db_xref="CDD:435070"
     CDS             1..1381
                     /gene="SYNRG"
                     /gene_synonym="AP1GBP1; SYNG"
                     /coded_by="XM_047435232.1:64..4209"
                     /db_xref="GeneID:11276"
                     /db_xref="HGNC:HGNC:557"
                     /db_xref="MIM:607291"
ORIGIN      
        1 malrpgagsg gggaagagag saggggfmfp vaggirppqg lmpmqqqgfp mvsvmqpnmq
       61 gimgmnyssq msqgpiamqa gipmgpmpaa gmpylgqapf lgmrppgpqy tpdmqkqfae
      121 eqqkrfeqqq klleeerkrr qfeeqkqklr llssvkpktg eksrddalea ikgnldgfsr
      181 dakmhptpas hpkkpdcpts shstktvsps pafldeeefs dfmqgpvevp pcgpsstsqp
      241 fqsfhpstpl gqlhtqkagt qplppsqspv pfalhgvpgq ipyfstasas hsvpeagpsl
      301 eekflvscdi stsgqeqikl ntsevghkal gpgsskkyps lmasngvavd gcvsgtttae
      361 aentsdqnls ieesgvgvfp sqdpaqprmp pwiyneslvp daykkilett mtptgidtak
      421 lypilmssgl pretlgqiwa lanrttpgkl tkeelytvla miavtqrgvp amspdalnqf
      481 paapiptlsg fsmtlptpvs qptvipsgpa gsmplslgqp vmginlvgpv ggaaaqassg
      541 fiptypanqv vkpeeddfqd fqdasksgsl ddsfsdfqel passktsnsq hgnsapsllm
      601 plpgtkalps mdkyavfkgi aadkssentv ppgdpgdkys afreleqtae nkplgesfae
      661 frsagtddgf tdfktadsvs plepptkdkt fppsfpsgti qqkqqtqvkn plnladldmf
      721 ssvncssekp lsfsavfsts ksvstpqstg saatmtalaa tktssladdf gefslfgeys
      781 glapvgeqdd fadfmafsns sisseqkpdd kydalkeeas pvpltsnvgs tvkggqnsta
      841 astkydvfrq lslegsglgv edlkdntpsg ksdddfadfh sskfssinsd kslgekavaf
      901 rhtkedsasv ksldlpsigg ssvgkedsed alsvqfdmkl advggdlkhv msdssldlpt
      961 vsgqhppaad iedlkyaafg syssnfavst ltsydwsdrd datqgrklsp fvlsagsgsp
     1021 satsilqkke tsfgssenit mtslskvttf vsedalpett fpalasfkdt ipqtseqkey
     1081 enrdykdftk qdlptaersq eatcpspass gasqetpnec sddfgefqse kpkiskfdfl
     1141 vatsqskmks seemiksela tfdlsvqale qpfrdrsntl nekpalpvir dkykdltgev
     1201 eeneryayew qrclgsalnv ikkandtlng issssvctev iqsaqgmeyl lgvvevyrvt
     1261 krvelgikat avcseklqql lkdidkvwnn ligfmslatl tpdensldfs scmlrpgikn
     1321 aqelacgvcl lnvdsrsraf nsetdsfkla ygghqyhasc anfwincvep kppglvlpdl
     1381 l
//
LOCUS       XP_047292326             381 aa            linear   PRI 20-MAR-2023
DEFINITION  cAMP-dependent protein kinase type I-alpha regulatory subunit
            isoform X1 [Homo sapiens].
ACCESSION   XP_047292326
VERSION     XP_047292326.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436370.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..381
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..381
                     /product="cAMP-dependent protein kinase type I-alpha
                     regulatory subunit isoform X1"
                     /calculated_mol_wt=42851
     Region          14..63
                     /region_name="DD_RIalpha_PKA"
                     /note="dimerization/docking (D/D) domain of the Type I
                     alpha Regulatory subunit of cAMP-dependent protein kinase;
                     cd12101"
                     /db_xref="CDD:438522"
     Site            order(15,18..19,28..29,31..32,35..36)
                     /site_type="other"
                     /note="AKAP interaction site [polypeptide binding]"
                     /db_xref="CDD:438522"
     Site            order(18,21..22,27,30..31,34..35,38..39,43,45..48,50..51,
                     54..55,58)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:438522"
     Region          137..246
                     /region_name="CAP_ED"
                     /note="effector domain of the CAP family of transcription
                     factors; members include CAP (or cAMP receptor protein
                     (CRP)), which binds cAMP, FNR (fumarate and nitrate
                     reduction), which uses an iron-sulfur cluster to sense
                     oxygen) and CooA, a heme containing CO...; cd00038"
                     /db_xref="CDD:237999"
     Site            order(201..202,211..213)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:237999"
     Site            order(233..235,239..241)
                     /site_type="other"
                     /note="flexible hinge region"
                     /db_xref="CDD:237999"
     Region          255..370
                     /region_name="CAP_ED"
                     /note="effector domain of the CAP family of transcription
                     factors; members include CAP (or cAMP receptor protein
                     (CRP)), which binds cAMP, FNR (fumarate and nitrate
                     reduction), which uses an iron-sulfur cluster to sense
                     oxygen) and CooA, a heme containing CO...; cd00038"
                     /db_xref="CDD:237999"
     Site            order(325..326,335..337)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:237999"
     Site            order(357..359,363..365)
                     /site_type="other"
                     /note="flexible hinge region"
                     /db_xref="CDD:237999"
     CDS             1..381
                     /gene="PRKAR1A"
                     /gene_synonym="ACRDYS1; ADOHR; CAR; CNC; CNC1; PKR1;
                     PPNAD1; PRKAR1; TSE1"
                     /coded_by="XM_047436370.1:391..1536"
                     /db_xref="GeneID:5573"
                     /db_xref="HGNC:HGNC:9388"
                     /db_xref="MIM:188830"
ORIGIN      
        1 mesgstaase earslrecel yvqkhniqal lkdsivqlct arperpmafl reyferleke
       61 eakqiqnlqk agtrtdsred eisppppnpv vkgrrrrgai saevyteeda asyvrkvipk
      121 dyktmaalak aieknvlfsh lddnersdif damfsvsfia getviqqgde gdnfyvidqg
      181 etdvyvnnew atsvgeggsf gelaliygtp raatvkaktn vklwgidrds yrrilmgstl
      241 rkrkmyeefl skvsilesld kwerltvada lepvqfedgq kivvqgepgd effiilegsa
      301 avlqrrsene efvevgrlgp sdyfgeiall mnrpraatvv argplkcvkl drprfervlg
      361 pcsdilkrni qqynsfvsls v
//
LOCUS       XP_047292764             835 aa            linear   PRI 20-MAR-2023
DEFINITION  CST complex subunit CTC1 isoform X12 [Homo sapiens].
ACCESSION   XP_047292764
VERSION     XP_047292764.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436808.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..835
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..835
                     /product="CST complex subunit CTC1 isoform X12"
                     /calculated_mol_wt=92594
     Region          61..>826
                     /region_name="CTC1"
                     /note="CST, telomere maintenance, complex subunit CTC1;
                     cl24054"
                     /db_xref="CDD:451681"
     CDS             1..835
                     /gene="CTC1"
                     /gene_synonym="AAF-132; AAF132; C17orf68; CRMCC;
                     tmp494178"
                     /coded_by="XM_047436808.1:21..2528"
                     /db_xref="GeneID:80169"
                     /db_xref="HGNC:HGNC:26169"
                     /db_xref="MIM:613129"
ORIGIN      
        1 maagraqvps seqawledaq vfiqktlcpa vkepnvqltp lvidcvktvw lsqgrnqgst
       61 lplsysfvsv qdlkthqrlp ccshlswsss ayqawaqeag pngnplpreq llllgtltdl
      121 sadleqecrn gslyvrdntg vlscelidld lswlghlflf prwsylppar wnssgeghle
      181 lwdapvpvfp ltispgpvtp ipvlypesas cllrlrnklr gvqrnlagsl vrlsalvksk
      241 qkayfilslg rshpavthvs iivqvpaqlv whralrpgta yvltelrvsk irgqrqhvwm
      301 tsqssrllll kpecvqelel elegpllead pkplpmpsns edkkdpeslv rysrllsysg
      361 avtgvlnepa glyeldgqlg lclayqqfrg lrrvmrpgvc lqlqdvhllq svgggtrrpv
      421 lapclrgavl lqsfsrqkpg ahssrqayga slyeqlvwer qlglplylwa tkaleelack
      481 lcphvlrhhq flqhsspgsp slglqllapt ldllappgsp vrnahneile ephhcplqky
      541 trlqtpssfp tlatlkeegq rkawasfdpk allplpeasy lpscqlnrrl awswlcllps
      601 afcpaqvllg vlvasshkgc lqlrdqsgsl pclllakhsq plsdprligc lvraerfqli
      661 verdvrssfp swkelsmpgf iqkqqarvyv qffladalil pvprpclhsa tpstpqtdpt
      721 gpegphlgqs rlfllchkea lmkrnfcvpp gaspevpkpa lsfyvlgswl ggtqrkegtg
      781 wglpepqgnd dndqkvhlif fgssvrwfef lhpgqvyrli apgpafhrfl gvflr
//
LOCUS       XP_011523706            1405 aa            linear   PRI 20-MAR-2023
DEFINITION  protein phosphatase Slingshot homolog 2 isoform X4 [Homo sapiens].
ACCESSION   XP_011523706
VERSION     XP_011523706.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011525404.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1405
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..1405
                     /product="protein phosphatase Slingshot homolog 2 isoform
                     X4"
                     /calculated_mol_wt=156338
     Region          18..218
                     /region_name="SSH-N"
                     /note="N-terminal domain conserved in slingshot (SSH)
                     phosphatases; cd11652"
                     /db_xref="CDD:212166"
     Region          232..284
                     /region_name="DEK_C"
                     /note="DEK C terminal domain; pfam08766"
                     /db_xref="CDD:430201"
     Region          287..430
                     /region_name="DSP_slingshot_2"
                     /note="dual specificity phosphatase domain of slingshot
                     homolog 2; cd14569"
                     /db_xref="CDD:350417"
     CDS             1..1405
                     /gene="SSH2"
                     /gene_synonym="SSH-2; SSH-2L"
                     /coded_by="XM_011525404.3:875..5092"
                     /db_xref="GeneID:85464"
                     /db_xref="HGNC:HGNC:30580"
                     /db_xref="MIM:606779"
ORIGIN      
        1 mhkikslpsw slystigsis esfltvkgaa lflprgngss tprishrrnk hagdlqqhlq
       61 amfillrped nirlavrles tyqnrtrymv vvstngrqdt eesivlgmdf ssndsstctm
      121 glvlplwsdt lihldgdggf svstdnrvhi fkpvsvqamw salqslhkac evarahnyyp
      181 gslfltwvsy yeshinsdqs svnewnamqd vqshrpdspa lftdiptere rterliktkl
      241 reimmqkdle nitskeirte lemqmvcnlr efkefidnem ivilgqmdsp tqifehvflg
      301 sewnasnled lqnrgvryil nvtreidnff pgvfeyhnir vydeeatdll aywndtykfi
      361 skakkhgskc lvhckmgvsr sastviayam keygwnldra ydyvkerrtv tkpnpsfmrq
      421 leeyqgilla skqrhnklwr shsdsdlsdh hepickpgle lnkkdittsa dqiaevktme
      481 shppippvfv ehmvpqdanq kglctkermi cleftsrefh agqiedelnl ndingcssgc
      541 clneskfpld nchaskaliq pghvpemank fpdltvedle tdalkadmnv hllpmeelts
      601 plkdppmspd pespspqpsc qteisdfstd ridffsalek fvelsqetrs rsfshsrmee
      661 lgggrnescr lsvvevapsk vtaddqrsss lsntphasee ssmdeeqska iselvspdif
      721 mqshsenais vkeivteies isqgvgqiql kgdilpnpch tpkknsihel lleraqtpen
      781 kpghmeqded sctaqpelak dsgmcnpegc ltthssiadl eegepaegeq elqgsgmhpg
      841 akwypgsvrr atlefeerlr qeqehhgaap tctslstrkn skndssvadl apkgksdeap
      901 pehsfvlkep emskgkgkys gseagslshs eqnatvpapr vlefdhlpdp qegpgsdtgt
      961 qqegvlkdlr tvipyqeset qavplplpkr veiieythiv tspnhtgpgs eiatseksge
     1021 qglrkvnmek svtvlctlde nlnrtldpnq vslhpqvlpl phssspehnr ptdhptsils
     1081 spedrgssls taletaapfv shtthllsas ldylhpqtmv hlegfteqss ttdepsaeqv
     1141 sweesqespl ssgsevpykd sqlssadlsl isklgdntge lqekmdplpv acrlphssss
     1201 enikslshsp gvvkerakei esrvvfqagl tkpsqmrrsa slaklgyldl ckdclperep
     1261 ascesphlkl lqpflrtdsg mhamedqesl enpgaphnpe ptksfveqlt ttecivqskp
     1321 verplvqyak efgssqqyll pragleltss egglpvlqtq glqcacpapg lavaprqqhg
     1381 rthplrrlkk andkkrttnp fyntm
//
LOCUS       XP_047295052             399 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 302 isoform X4 [Homo sapiens].
ACCESSION   XP_047295052
VERSION     XP_047295052.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439096.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..399
                     /product="zinc finger protein 302 isoform X4"
                     /calculated_mol_wt=45806
     Region          4..64
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          <132..348
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          203..223
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          231..251
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          259..279
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          287..307
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(292,294,296,298..299,302..303,306,320,322,326..327,
                     330..331,334,348,350,352,354..355,358..359,362)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          315..335
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          343..363
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          371..391
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..399
                     /gene="ZNF302"
                     /gene_synonym="HSD16; MST154; MSTP154; ZNF135L; ZNF140L;
                     ZNF327"
                     /coded_by="XM_047439096.1:1641..2840"
                     /db_xref="GeneID:55900"
                     /db_xref="HGNC:HGNC:13848"
ORIGIN      
        1 msqvtfsdva idfsheewac ldsaqrdlyk dvmvqnyenl vsvglsvtkp yvimlledgk
       61 epwmmekkls kdwesrwenk elstkkdiyd edspqpvtme kvvkqsyefs nsnknleyte
      121 cdtfrstfhs kstlsepqnn saegnshkyd ilkknlskks vikseringg kkllnsnksg
      181 aafnqskslt lpqtcnreki ytcsecgkaf gkqsilsrhw rihtgekpye crecgktfsh
      241 gssltrhqis hsgekpykci ecgkafshgs sltnhqstht gekpyecmnc gksfsrvsll
      301 iqhlrihtqe kryecricgk afihssslih hqkshtgekp yecrecgkaf ccsshltqhq
      361 rihsmkkkye cnkclkvfss fsflvqhqsi hteekpfev
//
LOCUS       XP_047299943            1529 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 141 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047299943
VERSION     XP_047299943.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443987.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1529
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1529
                     /product="coiled-coil domain-containing protein 141
                     isoform X4"
                     /calculated_mol_wt=174808
     Region          132..356
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Region          221..>846
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Site            248..253
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          <904..>1150
                     /region_name="235kDa-fam"
                     /note="reticulocyte binding/rhoptry protein; TIGR01612"
                     /db_xref="CDD:130673"
     Region          1408..1497
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          1425..1429
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1438..1442
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1463..1467
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1477..1482
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1490..1493
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..1529
                     /gene="CCDC141"
                     /gene_synonym="CAMDI"
                     /coded_by="XM_047443987.1:197..4786"
                     /db_xref="GeneID:285025"
                     /db_xref="HGNC:HGNC:26821"
                     /db_xref="MIM:616031"
ORIGIN      
        1 mssqgspsva lstttvssva vqagdskivi avikcgkwvq lqlaesqpnl leigssqdet
       61 kkllhdhell laklkaledr vwellqeadk taeenkdqsq vydamaetlg eawaalvsml
      121 errtellrlt seffenalef aikidqaedf lqnthefesa eslksllqlh ehhtkeller
      181 slallnksqq ltdfiekfkc egpnvnpelt qgahssclkv drllellqdr rrqldkylkq
      241 qwqelsqvlq icqwdqqenq vtcwfqktir nlqeqslgss lsdnedrihk qeeliikake
      301 wnsaveklks ealrillskd yvekehlqls hqklsqlqee fgqlmvernt wlkkaneffn
      361 sankafdvlg rveaylkllk seglslavla vrheelhrki kdcttdalqk gqtlisqvds
      421 cssqvsgihe mmgcikrrvd hlteqcsahk eyalkkqqlt asvegylrkv emsiqkispv
      481 lsnamdvgst rsesekilnk yleldiqake tsheleaaak tmmeknefvs demvslsska
      541 rwlaeelnlf gqsidyrsqv lqtyvaflks seevemqfqs lkefyeteip qkeqddakak
      601 hcsdsaekqw qlflkksfit qdlgleflnl inmakeneil dvknevylmk ntmenqkaer
      661 eelsllrlaw qlkateskpg kqqwaafkeq lkktshnlkl lqealmpvsa ldlggslqfi
      721 ldlrqkwndm kpqfqqlnde vqyimkesee ltgrgapvke ksqqlkdlih fhqkqkeriq
      781 dyedilykvv qfhqvkeelg rliksrelef veqpkelgda hdvqihlrcs qekqarvdhl
      841 hrlalslgvd iissvqrphc snvsaknlqq qlelleedsm kwrakaeeyg rtlsrsveyc
      901 amrdeinelk dsfkdikkkf nnlkfnytkk neksrnlkal kyqiqqvdmy aekmqalkrk
      961 mekvsnktsd sflnypsdkv nvllevmkdl qkhvddfdkv vtdykknldl tehfqeviee
     1021 chfwyedasa tvvrvgkyst ecktkeavki lhqqfnkfia psvpqqeeri qeatdlaqhl
     1081 ygleegqkyi ekivtkhkev lesvtelces lteleeklkg dvlkmnpnle dfhydyidll
     1141 kepaknkqti fneernkgqv qvadllging tgeerlpqdl kvstdkeggv qdlllpedml
     1201 sgeeyecvsp ddislpplpg spesplapsd meveepvsss lslhissygv qagtsspgda
     1261 qesvlpppva fadacndkre tfsshferpy lqfkaepplt srgfveksta lhrisaehpe
     1321 smmsevhera lqqhpqaqgg lletrekmha dnnftktqdr lhassdafsg lrfqsgtsrg
     1381 yqrqmvpree ikstsakssv vsladqapnf srllsnvtvm egspvtleve vtgfpeptlt
     1441 wykkgqklsa dghlqvlhke trhsvfipkv ckadaglyva raqnssgals snvilhvtgn
     1501 crlpitrvnw itlcvvyvsv slmywlltq
//
LOCUS       XP_016859958             238 aa            linear   PRI 20-MAR-2023
DEFINITION  LIM and senescent cell antigen-like-containing domain protein 2
            isoform X8 [Homo sapiens].
ACCESSION   XP_016859958
VERSION     XP_016859958.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004469.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..238
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..238
                     /product="LIM and senescent cell antigen-like-containing
                     domain protein 2 isoform X8"
                     /calculated_mol_wt=26036
     Region          154..207
                     /region_name="LIM5_PINCH"
                     /note="The fifth LIM domain of protein PINCH; cd09335"
                     /db_xref="CDD:188721"
     Site            order(154,157,174,177,180,183,202,205)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188721"
     CDS             1..238
                     /gene="LIMS2"
                     /gene_synonym="LGMD2W; MDRCMTT; PINCH-2; PINCH2"
                     /coded_by="XM_017004469.2:34..750"
                     /db_xref="GeneID:55679"
                     /db_xref="HGNC:HGNC:16084"
                     /db_xref="MIM:607908"
ORIGIN      
        1 mvralkllht pspgrvagsq rgpssgvlpl pvlsqgpqpa hgsqetrvht hgwvavptsp
       61 lppagilrds kvrrkpwgqs vqsawglwmt epaawtalcr hgaeeflstl svpsvrshsw
      121 gtgtmrrraw ptarltttsy sdsllgpqlf gdvcyncshv iegdvvsaln kawcvscfsc
      181 stcnskltlk nkfvefdmkp vckrcyekfp lelkkrlkkl seltsrkaqp katdlnsa
//
LOCUS       XP_047301325             580 aa            linear   PRI 20-MAR-2023
DEFINITION  high affinity choline transporter 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047301325
VERSION     XP_047301325.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445369.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..580
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..580
                     /product="high affinity choline transporter 1 isoform X1"
                     /calculated_mol_wt=63073
     Region          8..495
                     /region_name="SLC5sbd_CHT"
                     /note="Na(+)- and Cl(-)-dependent choline cotransporter
                     CHT and related proteins; solute-binding domain; cd11474"
                     /db_xref="CDD:271368"
     Site            order(60,63,343,346..347)
                     /site_type="other"
                     /note="Na binding site [ion binding]"
                     /db_xref="CDD:271368"
     CDS             1..580
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; HMN7A"
                     /coded_by="XM_047445369.1:410..2152"
                     /db_xref="GeneID:60482"
                     /db_xref="HGNC:HGNC:14025"
                     /db_xref="MIM:608761"
ORIGIN      
        1 mafhveglia iivfyllill vgiwaawrtk nsgsaeerse aiivggrdig llvggftmta
       61 twvgggying taeavyvpgy glawaqapig yslslilggl ffakpmrskg yvtmldpfqq
      121 iygkrmggll fipalmgemf waaaifsalg atisviidvd mhisviisal iatlytlvgg
      181 lysvaytdvv qlfcifvglw isvpfalshp avadigftav hakyqkpwlg tvdssevysw
      241 ldsflllmlg gipwqayfqr vlssssatya qvlsflaafg clvmaipail igaigastdw
      301 nqtayglpdp ktteeadmil pivlqylcpv yisffglgav saavmssads silsassmfa
      361 rniyqlsfrq nasdkeivwv mritvfvfga satamalltk tvyglwylss dlvyivifpq
      421 llcvlfvkgt ntygavagyv sglflritgg epylylqpli fypgyypddn giynqkfpfk
      481 tlamvtsflt nicisylaky lfesgtlppk ldvfdavvar hseenmdkti lvknenikld
      541 elalvkprqs mtlsstftnk eafldvdssp egsgtednlq
//
LOCUS       XP_016860226             379 aa            linear   PRI 20-MAR-2023
DEFINITION  aquaporin-12B isoform X8 [Homo sapiens].
ACCESSION   XP_016860226
VERSION     XP_016860226.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004737.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..379
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..379
                     /product="aquaporin-12B isoform X8"
                     /calculated_mol_wt=40468
     Region          <89..248
                     /region_name="MIP"
                     /note="Major intrinsic protein (MIP) superfamily. Members
                     of the MIP superfamily function as membrane channels that
                     selectively transport water, small neutral molecules, and
                     ions out of and between cells. The channel proteins share
                     a common fold: the N-terminal...; cl00200"
                     /db_xref="CDD:444743"
     Site            order(91..93,208..209,212,215)
                     /site_type="active"
                     /note="amphipathic channel [active]"
                     /db_xref="CDD:238204"
     Site            order(93..95,212..214)
                     /site_type="other"
                     /note="Asn-Pro-Ala signature motifs"
                     /db_xref="CDD:238204"
     CDS             1..379
                     /gene="AQP12B"
                     /gene_synonym="INSSA3"
                     /coded_by="XM_017004737.2:49..1188"
                     /db_xref="GeneID:653437"
                     /db_xref="HGNC:HGNC:6096"
ORIGIN      
        1 maglnvslsf ffatftlcea arraskallp vgayevfare avgavqlgac flemrtlvel
       61 gpwagdfgpd llltllfllf lahgvtldga sanptvslqe flmaeeslpg tllklaaqgl
      121 gmqaactltr lcwawelsdl hllqslmaqs cssalrtsvp hgalveaaca fcfhltllhl
      181 rhsppaysgp avallvtvta ytagpftsaf fnpalaasvt facsghtlle yvqvywlgpl
      241 tgavtacltv dtvpvpsklq peeqhgevme pplgprsgds gpwlqrprws phlllhllsd
      301 trlhltegws wlccctraaf ptfsrgtcst arrtstehpe gsrprpqgtp rplqrgpvsg
      361 slgavvlrgh ipaewpcsv
//
LOCUS       XP_016860328            1765 aa            linear   PRI 20-MAR-2023
DEFINITION  RANBP2-like and GRIP domain-containing protein 5/6 isoform X1 [Homo
            sapiens].
ACCESSION   XP_016860328
VERSION     XP_016860328.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017004839.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_016860328.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1765
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1765
                     /product="RANBP2-like and GRIP domain-containing protein
                     5/6 isoform X1"
                     /calculated_mol_wt=198873
     Region          <13..109
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Site            order(17..18,20,44,47..48,51..52,54..55,78,81..82,85..86,
                     89)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          42..72
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          43..75
                     /region_name="TPR_1"
                     /note="Tetratricopeptide repeat; pfam00515"
                     /db_xref="CDD:425728"
     Region          1034..1150
                     /region_name="RanBD2_RanBP2-like"
                     /note="Ran-binding protein 2, Ran binding domain repeat 2;
                     cd13177"
                     /db_xref="CDD:269998"
     Site            order(1048,1050..1052,1057..1062,1079,1081,1083..1084,
                     1086,1088..1090,1093,1095,1099,1103,1113,1115,1128,1132)
                     /site_type="other"
                     /note="putative RAN binding site [polypeptide binding]"
                     /db_xref="CDD:269998"
     Region          1331..1447
                     /region_name="RanBD3_RanBP2-like"
                     /note="Ran-binding protein 2, Ran binding domain repeat 3;
                     cd14685"
                     /db_xref="CDD:270204"
     Site            order(1345,1347..1349,1354..1359,1376,1378,1380..1381,
                     1383,1385..1387,1390,1392,1396,1400,1410,1412,1425,1429)
                     /site_type="other"
                     /note="putative RAN binding site [polypeptide binding]"
                     /db_xref="CDD:270204"
     CDS             1..1765
                     /gene="RGPD6"
                     /gene_synonym="RanBP2L1; RanBP2L2; RGP6; RGPD7"
                     /coded_by="XM_017004839.2:109..5406"
                     /db_xref="GeneID:729540"
                     /db_xref="HGNC:HGNC:32419"
                     /db_xref="MIM:612709"
ORIGIN      
        1 mgprvtvksm kgfyfaklyy eakeydlakk yictyinvqe rdpkahrflg llyeleente
       61 kavecyrrsv elnptqkdlv lkiaellckn dvtdgrakyw veraaklfpg spaiyklkeq
      121 lldcegedgw nklfdliqse lyvrpddvhv nirlvelyrs tkrlkdavah cheaernial
      181 rsslewnscv vqtlkeyles lqclesdksd wqatntdlll ayanlmlltl strdvqenre
      241 llesfdsalq saksslggnd elsatflemk ghfymyagsl llkmgqhgnn vqwralsela
      301 alcyliafqv prpkiklreg kagqnllemm acdrlsqsgh mllslsrgkq dflkevvetf
      361 ankigqsaly dalfssqspk dtsflgsddi gkidvqepel edlarydvga irahngslqh
      421 ltwlglqwns lpalpgirkw lkqlfhrlph etsrletnap esicildlev fllgvvytsh
      481 lqlkekcnsh hssyqplclp fpvckqlcte rqkswwdavc tlihrkavpg nlaklrllvq
      541 heintlraqe khglqpallv hwakylqktg sglnsfygql eyigrsvhyw kkvlpllkii
      601 kknsipepid plfkhfhsvd iqaseiveye edahitfaml davngnieda vtafesiksv
      661 vsywnlalif hrkaediend alspeeqeec rnyltktrdy likiiddgds nlsvvkklpv
      721 plesvkqmln svmqeledys eggplykngs lrnadseikh stpsptkysl spsksykysp
      781 etpprwtedr nsllnmicqq veaikkemqe lklnssksas rhrwptenyg pdsvpdgyqg
      841 sqtfhgaplt vattgpsvyy sqspaynsqy llrpaanvtp tkgssntefk stkegfsipv
      901 sadgfkfgis epgnqekkre kplendtgfq aqdisgrkkg rgvifgqtss tftfadvaks
      961 tsgegfqfgk kdlnfkgfsg ageklfssry gkmankants gdfekddday ktedsddihf
     1021 epvvqmpekv elvtgeegek vlysqgvklf rfdaevrqwk erglgnlkil knevngklrm
     1081 lmrreqvlkv canhwitttm nlkplsgsdr awmwsasdfs dgdaklerla akfktpelae
     1141 efkqkfeecq rllldiplqt phklvdtgra akliqraeem ksglkdfktf ltndqtkvte
     1201 eenkgsgtga agasdttikp naentgptle wdnydlreda lddsvssssv hasplasspv
     1261 rknlfrfdes ttgsnfsfks alslskspak lnqsgtsvgt deesvvtqee erdgqyfepv
     1321 vplpdlvevs sgeeneqvvf shraeiyryd kdvgqwkerg igdikilqny dnkqvrivmr
     1381 rdqvlklcan hritpdmslq nmkgtervwv wtacdfadge rkvehlavrf klqdvadsfk
     1441 kifdeaktaq ekdslitphv srsstpresp cgkiavaile ettrertdvi qgddvadaas
     1501 evevsstset ttkavvsppk fvfvsesvkr ifssekskpf vfgnssatgs lfgfsfnapl
     1561 ksnnsetssv aqsgseskve pkkcelskns dieqssdskv knlsasfpte essinytfkt
     1621 pekgpvssqq slknlrerrn tdlplldmht vtqeegegme ttdtesvssa stytqsleql
     1681 lnspetklgl llclnmffff nftvlfnyyy skvhmlfwaa pikflsifhy lfvlgfsrgt
     1741 eligwldgwm gwmdgcllsi tlhdh
//
LOCUS       XP_047301951             315 aa            linear   PRI 20-MAR-2023
DEFINITION  rhomboid-related protein 4 isoform X2 [Homo sapiens].
ACCESSION   XP_047301951
VERSION     XP_047301951.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445995.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..315
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..315
                     /product="rhomboid-related protein 4 isoform X2"
                     /calculated_mol_wt=35692
     Region          65..206
                     /region_name="Rhomboid"
                     /note="Rhomboid family; cl21536"
                     /db_xref="CDD:419717"
     CDS             1..315
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /coded_by="XM_047445995.1:2411..3358"
                     /db_xref="GeneID:84236"
                     /db_xref="HGNC:HGNC:23081"
                     /db_xref="MIM:617515"
ORIGIN      
        1 mqrrsrgint glilllsqif hvginnippv tlatlalniw fflnpqkply ssclsvekcy
       61 qqkdwqrlll splhhaddwh lyfnmasmlw kginlerrlg srwfayvita fsvltgvvyl
      121 llqfavaefm depdfkrsca vgfsgvlfal kvlnnhycpg gfvnilgfpv pnrfacwvel
      181 vaihlfspgt sfaghlagil vglmytqgpl kkimeacagg fsssvgypgr qyyfnssgss
      241 gyqdyyphgr pdhyeeaprn ydtytaglse eeqleralqa slwdrgntrn spppygfhls
      301 peemrrqrlh rfdsq
//
LOCUS       XP_047296388             297 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription elongation factor A protein 2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047296388
VERSION     XP_047296388.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440432.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..297
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..297
                     /product="transcription elongation factor A protein 2
                     isoform X2"
                     /calculated_mol_wt=32909
     Region          1..270
                     /region_name="TFSII"
                     /note="transcription elongation factor S-II; TIGR01385"
                     /db_xref="CDD:273592"
     CDS             1..297
                     /gene="TCEA2"
                     /gene_synonym="TFIIS"
                     /coded_by="XM_047440432.1:3125..4018"
                     /db_xref="GeneID:6919"
                     /db_xref="HGNC:HGNC:11614"
                     /db_xref="MIM:604784"
ORIGIN      
        1 mdllrelkam pitlhllqst rvgmsvnalr kqssdeevia lakslikswk klldasdaka
       61 rergrgmplp tssrdaseap dpsrkrpelp rapstpritt fppvpvtcda vrnkcremlt
      121 aalqtdhdhv aigadcerls aqieecifrd vgntdmkykn rvrsrisnlk daknpdlrrn
      181 vlcgaitpqq iavmtseema sdelkeirka mtkeairehq martggtqtd lftcgkcrkk
      241 nctytqvqtr ssdepmttfv vcnecgnrwk vgeqaqaapp ssilwrwgvs asvgsvv
//
LOCUS       XP_047296566             867 aa            linear   PRI 20-MAR-2023
DEFINITION  TELO2-interacting protein 1 homolog isoform X4 [Homo sapiens].
ACCESSION   XP_047296566
VERSION     XP_047296566.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440610.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..867
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..867
                     /product="TELO2-interacting protein 1 homolog isoform X4"
                     /calculated_mol_wt=97600
     CDS             1..867
                     /gene="TTI1"
                     /gene_synonym="KIAA0406; smg-10"
                     /coded_by="XM_047440610.1:182..2785"
                     /db_xref="GeneID:9675"
                     /db_xref="HGNC:HGNC:29029"
                     /db_xref="MIM:614425"
ORIGIN      
        1 mavfdtpeea fgvlrpvcvq ltktqtvenv ehlqtrlqav sdsalqelqq yilfplrftl
       61 ktpgpkrerl iqsvvecltf vlsstcvkeq ellqelfsel saclyspssq kpaavseelk
      121 laviqglstl mhsaygdiil tfyepsilpr lgfavslllg laeqekskqi kiaalkclqv
      181 lllqcdcqdh prsldeleqk qlgdlfasfl pgistaltrl itgdfkqghs ivvsslkify
      241 ktvsfimade qlkriskvqa kpavehrvae lmvyreadwv kktgdkltil ikkiiecvsv
      301 hphwkvrlel velvedlllk csqslvecag pllkalvglv ndespeiqaq cnkvlrhfad
      361 qkvvvgnkal adilseslhs latslprlmn sqddqgkfst lslllgylkl lgpkinfvln
      421 svahlqrlsk aliqvleldv adikiveerr wnsddlnasp ktsatqpwnr iqrryfrfft
      481 derifmllrq vcqllgyygn lyllvdhfme lyhqsvvyrk qaamilnelv tgaagleved
      541 lhekhiktnp eelreivtsi leeytsqenw ylvtcletee mgeelmmehp glqaitsgeh
      601 tcqvtsflaf skpspticsm nsniwqiciq legigqfaya lgkdfclllm salypvleka
      661 gdqtllisqv atstmmdvcr acgydslqhl inqnsdylvn gislnlrhla lhphtpkvle
      721 vmlrnsdanl lplvadvvqd vlatldqfyd kraasfvsvl halmaalaqw fpdtgnlghl
      781 qeqslgeegs hlnqrpaale kstttaedie qfllnylkek dvadgnvsdf dneevvlffq
      841 rnsqslpkwm rmtpvqmwsh hchcrsk
//
LOCUS       XP_016862818             778 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-17 receptor C isoform X4 [Homo sapiens].
ACCESSION   XP_016862818
VERSION     XP_016862818.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017007329.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..778
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..778
                     /product="interleukin-17 receptor C isoform X4"
                     /calculated_mol_wt=84599
     Region          142..530
                     /region_name="IL17_R_N"
                     /note="Interleukin-17 receptor extracellular region;
                     pfam15037"
                     /db_xref="CDD:434410"
     Region          577..724
                     /region_name="SEFIR"
                     /note="SEFIR domain; pfam08357"
                     /db_xref="CDD:254756"
     CDS             1..778
                     /gene="IL17RC"
                     /gene_synonym="CANDF9; IL17-RL; IL17RL"
                     /coded_by="XM_017007329.2:219..2555"
                     /db_xref="GeneID:84818"
                     /db_xref="HGNC:HGNC:18358"
                     /db_xref="MIM:610925"
ORIGIN      
        1 mpvpwfllsl algrspvvls lerlvgpqda thcspvslep wgdeerlrvq flaqqslsla
       61 pvtaatarta lsglsgadgr reergrgksw vclslggsgn tepqkkglsc rlwdsdilcl
      121 pgdivpapgp vlapthlqte lvlrcqketd cdlclrvavh lavhghweep edeekfggaa
      181 dsgveeprna slqaqvvlsf qayptarcvl levqvpaalv qfgqsvgsvv ydcfeaalgs
      241 evriwsytqp ryekelnhtq qlpdcrglev wnsipscwal pwlnvsadgd nvhlvlnvse
      301 eqhfglslyw nqvqgppkpr whknltgpqi itlnhtdlvp clciqvwple pdsvrtnicp
      361 fredprahqn lwqaarlqll tlqswlldap cslpaeaalc wrapggdpcq plvpplswen
      421 vtvdkvlefp llkghpnlcv qvnsseklql qeclwadslg plkddvllle trgpqdnrsl
      481 calepsgcts lpskastraa rlgeyllqdl qsgqclqlwd ddlgalwacp mdkyihkrwa
      541 lvwlacllfa aalslilllk kdhakaaarg raalllysad dsgferlvga lasalcqlpl
      601 rvavdlwsrr elsaqgpvaw fhaqrrqtlq eggvvvllfs pgavalcsew lqdgvsgpga
      661 hgphdafras lscvlpdflq grapgsyvga cfdrllhpda vpalfrtvpv ftlpsqlpdf
      721 lgalqqprap rsgrlqerae qvsralqpal dsyfhppgtp apgrgvgpga gpgagdgt
//
LOCUS       XP_024309588             704 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat flightless-interacting protein 2 isoform X5
            [Homo sapiens].
ACCESSION   XP_024309588
VERSION     XP_024309588.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453820.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..704
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..704
                     /product="leucine-rich repeat flightless-interacting
                     protein 2 isoform X5"
                     /calculated_mol_wt=79866
     Region          275..629
                     /region_name="LRRFIP"
                     /note="LRRFIP family; pfam09738"
                     /db_xref="CDD:430789"
     Region          611..>704
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..704
                     /gene="LRRFIP2"
                     /gene_synonym="HUFI-2"
                     /coded_by="XM_024453820.2:666..2780"
                     /db_xref="GeneID:9209"
                     /db_xref="HGNC:HGNC:6703"
                     /db_xref="MIM:614043"
ORIGIN      
        1 mgtpasgrkr tpvkdrfsae dealsniare aearlaakra araeardirm relerqqkee
       61 dseraryshr sshhrpylgv edalsirsvg shrydmfkdr ssrlsslnhs yshshgmkkr
      121 ssdshkdlls glyfdqrnys slrhskptsa yytrqsssly sdplatyksd rasptansgl
      181 lrsaslasly ngglynpygp rtpsecsyys srissarssp gftnddtasi vssdrasrgr
      241 resvvsaady fsrsnrrgsv vsevddisip dlssldeksd kqyaenytrp ssrnsasatt
      301 plsgnssrrg sgdtsslidp dtslselrdi ydlkdqiqdv egrymqglke lkeslsevee
      361 kykkamvsna qldneknnli yqvdtlkdvi eeqeeqmaef yreneekske lerqkhmcsv
      421 lqhkmeelke glrqrdelie ekqrmqqkid tmtkevfdlq etllwkdkki galekqkeyi
      481 aclrnerdml reeladlqet vktgekhglv iipdgtpngd vshepvagai tvvsqeaaqv
      541 lesagegpld vrlrklagek eellsqirkl klqleeerqk csrndgtvgd laglqngsdl
      601 qfiemqrdan rqiseykfkl skaeqdittl eqsisrlegq vlryktaaen aekvedelka
      661 ekrklqrelr taldkieeme mtnshlakrl ekmkanrtal laqq
//
LOCUS       XP_011530298             451 aa            linear   PRI 20-MAR-2023
DEFINITION  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X2
            [Homo sapiens].
ACCESSION   XP_011530298
VERSION     XP_011530298.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011531996.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..451
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..451
                     /product="polypeptide
                     N-acetylgalactosaminyltransferase-like 6 isoform X2"
                     /calculated_mol_wt=52067
     Region          34..288
                     /region_name="pp-GalNAc-T"
                     /note="pp-GalNAc-T initiates the formation of mucin-type
                     O-linked glycans; cd02510"
                     /db_xref="CDD:133004"
     Site            order(82,84,215)
                     /site_type="active"
                     /note="Mn binding site [active]"
                     /db_xref="CDD:133004"
     Region          304..432
                     /region_name="Ricin_B_lectin"
                     /note="Ricin-type beta-trefoil lectin domain; pfam00652"
                     /db_xref="CDD:395527"
     CDS             1..451
                     /gene="GALNTL6"
                     /gene_synonym="GalNAc-T6L; GALNACT20; GALNT17"
                     /coded_by="XM_011531996.2:170..1525"
                     /db_xref="GeneID:442117"
                     /db_xref="HGNC:HGNC:33844"
                     /db_xref="MIM:615138"
ORIGIN      
        1 mftggrasse ckglllrlst krrnkaengi rclqehlkdk leeymarfsk vrivrtkkre
       61 glirtrllga smargevltf ldshcevnvn wlppllnqia lnhktivcpm idvidhnhfg
      121 yeaqagdamr gafdwemyyk ripippelqr adpsdpfesp vmagglfavd rkwfwelggy
      181 dpgleiwgge qyeisfkvwm cggemfdvpc srvghiyrky vpykvpsgts larnlkrvae
      241 twmdefaeyi yqrrpeyrhl stgdisaqke lrkqlkckdf kwfmaavawd vpkyyppvep
      301 ppaawgeirn vaanlcvdsk hgatgtelrl dicvkdgser twsheqlftf gwredirpge
      361 plhtrkfcfd aishnspvtl ydchgmkgnq lwgyrkdrtl fhpvsnscmd cnpaekkifm
      421 arcdplsetq qwifehinmt vlekfnhhan s
//
LOCUS       XP_047271958             589 aa            linear   PRI 20-MAR-2023
DEFINITION  TBC1 domain family member 14 isoform X5 [Homo sapiens].
ACCESSION   XP_047271958
VERSION     XP_047271958.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416002.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..589
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..589
                     /product="TBC1 domain family member 14 isoform X5"
                     /calculated_mol_wt=65727
     Region          <326..370
                     /region_name="ARGLU"
                     /note="Arginine and glutamate-rich 1; pfam15346"
                     /db_xref="CDD:405931"
     Region          404..>585
                     /region_name="RabGAP-TBC"
                     /note="Rab-GTPase-TBC domain; pfam00566"
                     /db_xref="CDD:425753"
     CDS             1..589
                     /gene="TBC1D14"
                     /coded_by="XM_047416002.1:144..1913"
                     /db_xref="GeneID:57533"
                     /db_xref="HGNC:HGNC:29246"
                     /db_xref="MIM:614855"
ORIGIN      
        1 mtdgklstst ngvafmgild grpgnplqnl qhvnlkaprl lsapeygpkl klraledrhs
       61 lqsvdsgipt leignpepvp csavhvrrkq sdsdlipera fqsacalpsc appapsster
      121 eqsvrksstf prtgydsvkl ysptskaltr sddvsvcsvs slgtelsttl svsnedildl
      181 vvtssssaiv tlendddpqf tnvtlssike trglhqqdcv heaeegsklk ilgpfsnffa
      241 rnllarkqsa rldkhndlgw klfgkaplre naqkdskriq keyedkagrp skppspkqnv
      301 rknldfepls ttaliledrp anlpakpaee aqkhrqqyee mvvqakkrel keaqrrkkql
      361 eercrveesi gnavltwnne ilpnwetmwc srkvrdlwwq gippsvrgkv wslaigneln
      421 ithelfdicl arakerwrsl stggsevene dagfsaadre aslelikldi srtfpnlcif
      481 qqggpyhdml hsilgaytcy rpdvgyvqgm sfiaavliln ldtadafiaf snllnkpcqm
      541 affrvdhglm ltyfaafevf feenlpklfa hfkknnltpd iylidcpgp
//
LOCUS       XP_047272019             579 aa            linear   PRI 20-MAR-2023
DEFINITION  translation factor GUF1, mitochondrial isoform X2 [Homo sapiens].
ACCESSION   XP_047272019
VERSION     XP_047272019.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416063.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..579
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..579
                     /product="translation factor GUF1, mitochondrial isoform
                     X2"
                     /calculated_mol_wt=64739
     Region          10..575
                     /region_name="LepA"
                     /note="Translation elongation factor EF-4, membrane-bound
                     GTPase [Translation, ribosomal structure and biogenesis];
                     COG0481"
                     /db_xref="CDD:223557"
     CDS             1..579
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /coded_by="XM_047416063.1:152..1891"
                     /db_xref="GeneID:60558"
                     /db_xref="HGNC:HGNC:25799"
                     /db_xref="MIM:617064"
ORIGIN      
        1 mlllrekldm srfpvenirn fsivahvdhg kstladrlle ltgtidktkn nkqvldklqv
       61 erergitvka qtaslfynce gkqyllnlid tpghvdfsye vsrslsacqg vllvvdaneg
      121 iqaqtvanff lafeaqlsvi pvinkidlkn adpervenqi ekvfdipsde cikisaklgt
      181 nvesvlqaii eripppkvhr knplralvfd stfdqyrgvi anvalfdgvv skgdkivsah
      241 tqktyevnev gvlnpneqpt hklyagqvgy liagmkdvte aqigdtlclh kqpveplpgf
      301 ksakpmvfag mypldqseyn nlksaieklt lndssvtvhr dsslalgagw rlgflgllhm
      361 evfnqrleqe ynasvilttp tvpykavlss sklikehrek eitiinpaqf pdkskvteyl
      421 epvvlgtiit pdeytgkimm lcearravqk nmifidqnrv mlkylfplne ivvdfydslk
      481 slssgyasfd yedagyqtae lvkmdillng ntveelvtvv hnvkayrknv lakcyggdit
      541 rkmkllkrqa egkkklrkig nvevpkdafi kvlktqssk
//
LOCUS       XP_005248079             616 aa            linear   PRI 20-MAR-2023
DEFINITION  actin-binding LIM protein 2 isoform X28 [Homo sapiens].
ACCESSION   XP_005248079
VERSION     XP_005248079.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005248022.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..616
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..616
                     /product="actin-binding LIM protein 2 isoform X28"
                     /calculated_mol_wt=68107
     Region          29..80
                     /region_name="LIM1_abLIM"
                     /note="The first LIM domain of actin binding LIM (abLIM)
                     proteins; cd09327"
                     /db_xref="CDD:188713"
     Site            order(29,32,49,52,55,58,76,79)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188713"
     Region          85..140
                     /region_name="LIM2_abLIM"
                     /note="The second LIM domain on actin binding LIM (abLIM)
                     proteins; cd09328"
                     /db_xref="CDD:188714"
     Site            order(88,91,108,111,114,117,136,139)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188714"
     Region          158..209
                     /region_name="LIM3_abLIM"
                     /note="The third LIM domain of actin binding LIM (abLIM)
                     proteins; cd09329"
                     /db_xref="CDD:188715"
     Site            order(158,161,179,182,185,188,205,208)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188715"
     Region          217..272
                     /region_name="LIM4_abLIM"
                     /note="The fourth LIM domain of actin binding LIM (abLIM)
                     proteins; cd09330"
                     /db_xref="CDD:188716"
     Site            order(217,220,237,240,243,246,265,268)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188716"
     Region          281..566
                     /region_name="AbLIM_anchor"
                     /note="Putative adherens-junction anchoring region of
                     AbLIM; pfam16182"
                     /db_xref="CDD:435194"
     Region          581..616
                     /region_name="VHP"
                     /note="Villin headpiece domain; pfam02209"
                     /db_xref="CDD:426660"
     CDS             1..616
                     /gene="ABLIM2"
                     /coded_by="XM_005248022.5:90..1940"
                     /db_xref="GeneID:84448"
                     /db_xref="HGNC:HGNC:19195"
                     /db_xref="MIM:612544"
ORIGIN      
        1 mgvpggdtvs qpqaapsple kspstailcn tcgnvckgev lrvqdkyfhi kcfvckacgc
       61 dlaeggffvr qgeyictldy qrlygtrcfs cdqfiegevv salgktyhpd cfvcavcrlp
      121 fppgdrvtfn gkecmcqkcs lpvsvgssah lsqglrscgg cgteikngqa lvaldkhwhl
      181 gcfkckscgk llnaeyiskd glpyceadyh akfgircdsc ekyitgrvle agekhyhpsc
      241 alcvrcgqmf aegeemylqg ssiwhpacrq aartedrnke trtssesiis vpasstsgsp
      301 srviyaklgg eildyrdlaa lpkskaiydi drpdmisysp yishsagdrq sygegdqddr
      361 sykqcrtssp sstgsvslgr ytptsrspqh ysrpgsesgr stpslsvlsd skpppstyqq
      421 aprhfhvpdt gvkdniyrkp piyrqhaarr sdgedgsldq dnrkksswlm lkgdadtrtn
      481 spdldtqsls hssgtdrdpl qrmagdsfhs rfpysksdpl pghgkngldq rnanlapcga
      541 dpdaswgmre ykiypydsli vtnrirvklp kdvdrtrler hlspeefqev fgmsieefdr
      601 lalwkrndlk kkallf
//
LOCUS       XP_047272997             988 aa            linear   PRI 20-MAR-2023
DEFINITION  la-related protein 1 isoform X3 [Homo sapiens].
ACCESSION   XP_047272997
VERSION     XP_047272997.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417041.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..988
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..988
                     /product="la-related protein 1 isoform X3"
                     /calculated_mol_wt=113089
     Region          296..368
                     /region_name="LARP_1"
                     /note="La RNA-binding domain of La-related protein 1;
                     cd08037"
                     /db_xref="CDD:153406"
     Region          <299..447
                     /region_name="LHP1"
                     /note="La protein, small RNA-binding pol III transcript
                     stabilizing protein and related La-motif-containing
                     proteins involved in translation [Posttranslational
                     modification, protein turnover, chaperones / Translation,
                     ribosomal structure and biogenesis]; COG5193"
                     /db_xref="CDD:227520"
     Site            order(302,305..306,311,314..315,317,336..338)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:153406"
     Region          777..817
                     /region_name="DM15"
                     /note="Tandem repeat in fly CG14066 (La related protein),
                     human KIAA0731 and worm R144.7. Unknown function;
                     smart00684"
                     /db_xref="CDD:128927"
     Region          818..856
                     /region_name="DM15"
                     /note="Tandem repeat in fly CG14066 (La related protein),
                     human KIAA0731 and worm R144.7. Unknown function;
                     smart00684"
                     /db_xref="CDD:128927"
     CDS             1..988
                     /gene="LARP1"
                     /gene_synonym="Lar1; LARP; Lhp1"
                     /coded_by="XM_047417041.1:903..3869"
                     /db_xref="GeneID:23367"
                     /db_xref="HGNC:HGNC:29531"
                     /db_xref="MIM:612059"
ORIGIN      
        1 mlhfthrpte aqrgeaacqr prsilsthte cllrdtkehs apakvvraav pkqrkgskvg
       61 dfgdainwpt pgeiahksvq pqshkpqptr klppkkdmke qekgegsdsk espktksdes
      121 geekngdedc qrggqkkkgn khkwvplqid mkpevprekl asrptrppep rhipanrgei
      181 kgsesatyvp vapptpawqp eikpepawhd qdetssvksd gaggarasfr grgrgrgrgr
      241 grgrggtrth fdyqfgyrkf dgvegprtpk ymnnityyfd nvsstelysv dqellkdyik
      301 rqieyyfsvd nlerdfflrr kmdadgflpi tliasfhrvq alttdislif aalkdskvve
      361 ivdekvrrre epekwplppi vdysqtdfsq llncpefvpr qhyqketesa pgspravtpv
      421 ptkteevsnl ktlpkglsas lpdldsenwi evkkrprpsp arpkkseesr fshltslpqq
      481 lpsqqlmskd qdeqeeldfl fdeemeqmdg rkntftawsd eesdyeiddr dvnkilivtq
      541 tphymrrhpg gdrtgnhtsr akmsaelakv indglfyyeq dlwaekfepe ysqikqeven
      601 fkkvnmisre qfdtltpepp vdpnqevppg pprfqqvptd alanklfgap epstiarslp
      661 ttvpespnyr ntrtprtprt pqlkdssqts rfypvvkegr tldakmprkr ktrhssnppl
      721 eshvgwvmds rehrprtasi ssspsegtpt vgsygctpqs lpkfqhpshe llkengftqh
      781 vyhkyrrrcl nerkrlgigq sqemntlfrf wsfflrdhfn kkmyeefkql aledakegyr
      841 ygleclfryy syglekkfrl difkdfqeet vkdyeagqly glekfwaflk yskaknldid
      901 pklqeylgkf rrledfrvdp pmgeegnhkr hsvvaggggg egrkrcpsqs ssrpaamisq
      961 pptpptgqpv redakwtsqh sntqtlgk
//
LOCUS       XP_047273007             319 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 346 isoform X1 [Homo sapiens].
ACCESSION   XP_047273007
VERSION     XP_047273007.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417051.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..319
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..319
                     /product="zinc finger protein 346 isoform X1"
                     /calculated_mol_wt=35640
     Region          96..129
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     Region          160..189
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     Region          161..183
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Site            order(168..170,172..173,177,182,217,220..224,226..227)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275371"
     Region          207..241
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     Region          212..234
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Region          266..288
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     CDS             1..319
                     /gene="ZNF346"
                     /gene_synonym="JAZ; Zfp346"
                     /coded_by="XM_047417051.1:44..1003"
                     /db_xref="GeneID:23567"
                     /db_xref="HGNC:HGNC:16403"
                     /db_xref="MIM:605308"
ORIGIN      
        1 meypapatvq aadggaagpy sssellegqe pdgvrfdrer arrlweavsg aqpvgreeaq
       61 ffphsrtvip ilvlsetysl chpvehmiqk nqclftntqc kvccallise sqklahyqsk
      121 khankvkryl aihgmetlkg etkkldsdqk ssrskdknqc cpicnmtfss pvvaqshylg
      181 kthaknlklk qqstkvealh qnremidpdk fcslchatfn dpvmaqqhyv gkkhrkqetk
      241 lklmarygrl adpavtdfpa gkgypcktck ivlnsieqyq ahvsgfkhkn qspktvassl
      301 gqipmqrqpi qkdsttled
//
LOCUS       XP_047275241             689 aa            linear   PRI 20-MAR-2023
DEFINITION  tumor necrosis factor alpha-induced protein 3 isoform X3 [Homo
            sapiens].
ACCESSION   XP_047275241
VERSION     XP_047275241.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419285.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..689
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..689
                     /product="tumor necrosis factor alpha-induced protein 3
                     isoform X3"
                     /calculated_mol_wt=77808
     Region          41..261
                     /region_name="OTU_TNFAIP3"
                     /note="OTU (ovarian tumor) domain of tumor necrosis factor
                     alpha induced protein 3; cd22766"
                     /db_xref="CDD:438603"
     Site            order(98..99,101..103,149..151,155..156,158..159,167,171,
                     174,190..192,214..215,217..219,223..225,227,252,255..257)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438603"
     Region          384..409
                     /region_name="ZnF_A20"
                     /note="A20-like zinc fingers; smart00259"
                     /db_xref="CDD:128555"
     Region          475..500
                     /region_name="ZnF_A20"
                     /note="A20-like zinc fingers; smart00259"
                     /db_xref="CDD:128555"
     Region          604..629
                     /region_name="ZnF_A20"
                     /note="A20-like zinc fingers; smart00259"
                     /db_xref="CDD:128555"
     CDS             1..689
                     /gene="TNFAIP3"
                     /gene_synonym="A20; AIFBL1; AISBL; OTUD7C; TNFA1P2"
                     /coded_by="XM_047419285.1:276..2345"
                     /db_xref="GeneID:7128"
                     /db_xref="HGNC:HGNC:11896"
                     /db_xref="MIM:191163"
ORIGIN      
        1 maeqvlpqal ylsnmrkavk irertpedif kptngiihhf ktmhrytlem frtcqfcpqf
       61 reiihkalid rniqatlesq kklnwcrevr klvalktngd gnclmhatsq ymwgvqdtdl
      121 vlrkalfstl ketdtrnfkf rwqleslksq efvetglcyd trnwndewdn likmastdtp
      181 marsglqyns leeihifvlc nilrrpiivi sdkmlrsles gsnfaplkvg giylplhwpa
      241 qecyrypivl gydshhfvpl vtlkdsgpei ravplvnrdr grfedlkvhf ltdpenemke
      301 kllkeylmvi eipvqgwdhg tthlinaakl deanlpkein lvddyfelvq heykkwqens
      361 eqgrreghaq npmepsvpql slmdvkcetp ncpffmsvnt qplchecser rqknqnklpk
      421 lnskpgpegl pgmalgasrg eayeplawnp eestggphsa pptapspflf settamkcrs
      481 pgcpftlnvq hngfcerchn arqlhashap dhtrhldpgk cqaclqdvtr tfngicstcf
      541 krttaeasss lstslppsch qrsksdpsrl vrspsphsch ragndapagc lsqaartpgd
      601 rtgtskcrka gcvyfgtpen kgfctlcfie yrenkqiepa qrcasnhtkh lkaqvrpgll
      661 qehpglpqrg alhgvsasqp edgpwgppg
//
LOCUS       XP_047275614             345 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC105377864 [Homo sapiens].
ACCESSION   XP_047275614
VERSION     XP_047275614.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419658.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..345
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..345
                     /product="uncharacterized protein LOC105377864"
                     /calculated_mol_wt=43911
     CDS             1..345
                     /gene="LOC105377864"
                     /coded_by="XM_047419658.1:10867..11904"
                     /db_xref="GeneID:105377864"
ORIGIN      
        1 myisyisyip ciyhiyhvyi myiiyhvyim yiiyhvyimy iiyimyisyi syisciyhiy
       61 hiyhvciiyi iymmyvsyis yiscmyhiyh iyhvciiyii yiiyimyvsy isyisyiscm
      121 yhiyhiyhvc iiyiiyimyv syisyisciy hiyhiyhiyh vyiiyiiyii yimyisyiyh
      181 iyhvyhvyii yimyimyisy iscisciyhi yhiyhvyiiy iiyimsisyi syisclyhiy
      241 hiyhvyiiyi iyimyisyis yisciyhiyh vyhvyhvyii yimyimyisy isyisciyhi
      301 yhvyiiyiiy isyissiyhi yhiyhtayhv clfyfqdnlk ksykn
//
LOCUS       XP_047277072             719 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-D-binding Myb-like transcription factor 1 isoform X2 [Homo
            sapiens].
ACCESSION   XP_047277072
VERSION     XP_047277072.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421116.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..719
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..719
                     /product="cyclin-D-binding Myb-like transcription factor 1
                     isoform X2"
                     /calculated_mol_wt=79887
     Region          <48..397
                     /region_name="REB1"
                     /note="Myb superfamily proteins, including transcription
                     factors and mRNA splicing factors [Transcription / RNA
                     processing and modification / Cell division and chromosome
                     partitioning]; COG5147"
                     /db_xref="CDD:227476"
     Site            order(186,214..215,217..218,220..222,224..226)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238096"
     Region          187..243
                     /region_name="Myb_DNA-bind_6"
                     /note="Myb-like DNA-binding domain; pfam13921"
                     /db_xref="CDD:372817"
     Region          233..288
                     /region_name="Myb_DNA-binding"
                     /note="Myb-like DNA-binding domain; pfam00249"
                     /db_xref="CDD:425555"
     Site            order(235,275..276,278..279,281..283,285..287)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238096"
     CDS             1..719
                     /gene="DMTF1"
                     /gene_synonym="DMP1; DMTF; hDMP1; MRUL"
                     /coded_by="XM_047421116.1:651..2810"
                     /db_xref="GeneID:9988"
                     /db_xref="HGNC:HGNC:14603"
                     /db_xref="MIM:608491"
ORIGIN      
        1 mstveedsdt vtvetvnsvt ltqdtegnli lhcpqnvsen dqsfevtmta ttevaddevt
       61 egtvtqiqil qneqldeisp lgneevsavs qawfttkedk dsltnkghkw kqgmwskeei
      121 dilmnniery lkargikdat eiifemskde rkdfyrtiaw glnrplfavy rrvlrmyddr
      181 nhvgkytpee ieklkelrik hgndwatiga algrsassvk drcrlmkdtc ntgkwteeee
      241 krlaevvhel tstepgdivt qgvswaavae rvgtrsekqc rskwlnylnw kqsggtewtk
      301 edeinlilri aeldvadend inwdllaegw ssvrspqwlr skwwtikrqi anhkdvsfpv
      361 likglkqlhe nqknnptlle nksgsgvpns ntnssvqhvq irvarlednt aissspmaal
      421 qipvqithvs sadspatvds etitlnsgtl qtfeilpsfh lqptgtpgty llqtsssqgl
      481 pltltasptv tltaaapasp eqiivhalsp ehllntsdnv tvqchtprvi iqtvatedit
      541 ssisqaeltv dsdiqssdfp eppdaleadt fpdeihhpkm tvepsfndah vskfsdqnst
      601 elmnsvmvrt eeeisdtdlk qeespsdlas ayvteglesp tieeqvdqti ddetilivps
      661 phgfiqasdv idtesvlplt tltdpilqhh qeesniigss lgspvsedsk dvedlvnch
//
LOCUS       XP_047277173             708 aa            linear   PRI 20-MAR-2023
DEFINITION  vinexin isoform X3 [Homo sapiens].
ACCESSION   XP_047277173
VERSION     XP_047277173.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047421217.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..708
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..708
                     /product="vinexin isoform X3"
                     /calculated_mol_wt=79077
     Region          17..>636
                     /region_name="PRK10263"
                     /note="DNA translocase FtsK; Provisional"
                     /db_xref="CDD:236669"
     Region          153..202
                     /region_name="Sorb"
                     /note="Sorbin homologous domain; smart00459"
                     /db_xref="CDD:128735"
     Region          420..474
                     /region_name="SH3_Vinexin_1"
                     /note="First Src Homology 3 domain of Vinexin, also called
                     Sorbin and SH3 domain containing 3 (Sorbs3); cd11921"
                     /db_xref="CDD:212854"
     Site            order(426,428,431,435,453..454,467,469..470)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212854"
     Region          494..549
                     /region_name="SH3_Vinexin_2"
                     /note="Second Src Homology 3 domain of Vinexin, also
                     called Sorbin and SH3 domain containing 3 (Sorbs3);
                     cd11924"
                     /db_xref="CDD:212857"
     Site            order(500,502,505,509,527..528,543,545..546)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212857"
     Region          651..708
                     /region_name="SH3_Vinexin_3"
                     /note="Third (or C-terminal) Src Homology 3 domain of
                     Vinexin, also called Sorbin and SH3 domain containing 3
                     (Sorbs3); cd11918"
                     /db_xref="CDD:212851"
     Site            order(658,660,663,667,685..686,701,703..704)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212851"
     CDS             1..708
                     /gene="SORBS3"
                     /gene_synonym="SCAM-1; SCAM1; SH3D4"
                     /coded_by="XM_047421217.1:102..2228"
                     /db_xref="GeneID:10174"
                     /db_xref="HGNC:HGNC:30907"
                     /db_xref="MIM:610795"
ORIGIN      
        1 mastlsgtgs tsflrparrg haeeqlacpe sshldpsmqg pprslragls lddfipghlq
       61 shigsssrgt rvpvirnggs ntlnfqfhdp aprtvcnggy tprrdasqhp dpawyqtwpg
      121 pgskpsastk ipasqhtqnw satwtkdskr rdkrwvkyeg igpvdesgmp iaprssvdrp
      181 rdwyrrmfqq ihrkmpdlql dwtfeepprd prhlgaqqrp ahrpgpatss sgrswdhsee
      241 lprstfnyrp gafstvlqps nqvlrrrekv dnvwteeswn qflqeletgq rpkkplvddp
      301 gekpsqpiev llerelaels aeldkdlrai etrlpspkss paprrapeqr ppagpasaws
      361 ssyphapylg sarslsphkm adggspflgr rdfvypsstr dpsasngggs parreekkrk
      421 aarlkfdfqa qspkeltlqk gdivyihkev dknwlegehh grlgifpany vevlpadeip
      481 kpikpptyqv leygeavaqy tfkgdlevel sfrkgehicl irkvnenwye gritgtgrqg
      541 ifpasyvqvs reprlrlcdd gpqlptsprl taaarsarhp sspsalrspa dpidlggqts
      601 prrtgfsfpt qeprpqtqnl gtpgpalshs rgpshpldlg tsspntsqih wtpyramyqy
      661 rpqnedelel regdrvdvmq qcddgwfvgv srrtqkfgtf pgnyvapv
//
LOCUS       XP_016869755            1715 aa            linear   PRI 20-MAR-2023
DEFINITION  collagen alpha-1(V) chain isoform X1 [Homo sapiens].
ACCESSION   XP_016869755
VERSION     XP_016869755.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014266.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1715
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1715
                     /product="collagen alpha-1(V) chain isoform X1"
                     /calculated_mol_wt=169907
     Region          39..230
                     /region_name="TSPN"
                     /note="Thrombospondin N-terminal -like domains;
                     smart00210"
                     /db_xref="CDD:214560"
     Region          <487..>765
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <669..>933
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <826..>1073
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <1035..>1243
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          <1360..>1575
                     /region_name="gly_rich_SclB"
                     /note="LPXTG-anchored collagen-like adhesin Scl2/SclB;
                     NF038329"
                     /db_xref="CDD:439624"
     Region          1607..>1710
                     /region_name="COLFI"
                     /note="Fibrillar collagen C-terminal domain; cl02436"
                     /db_xref="CDD:445783"
     CDS             1..1715
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /coded_by="XM_017014266.3:386..5533"
                     /db_xref="GeneID:1289"
                     /db_xref="HGNC:HGNC:2209"
                     /db_xref="MIM:120215"
ORIGIN      
        1 mdvhtrwkar salrpgapll ppllllllwa pppsraaqpa dllkvldfhn lpdgitkttg
       61 fcatrrsskg pdvayrvtkd aqlsaptkql ypasafpedf silttvkakk gsqaflvsiy
      121 neqgiqqigl elgrspvfly edhtgkpgpe dyplfrginl sdgkwhrial svhkknvtli
      181 ldckkkttkf ldrsdhpmid ingiivfgtr ildeevfegd iqqllfvsdh raaydycehy
      241 spdcdtavpd tpqsqdpnpd eyytegdgeg etyyyeypyy edpedlgkep tpskkpveaa
      301 kettevpeel tptpteaapm petsegagke edvgigdydy vpsedyytps pyddltygeg
      361 eenpdqptdp gagaeiptst adtsnssnpa pppgegaddl egefteetir nldenyydpy
      421 ydptsspsei gpgmpanqdt iyegiggprg ekgqkgepai iepgmliegp pgpegpaglp
      481 gppgtmgptg qvgdpgergp pgrpglpgad glpgppgtml mlpfrfgggg dagskgpmvs
      541 aqesqaqail qqarlalrgp agpmgltgrp gpvgppgsgg lkgepgdvgp qgprgvqgpp
      601 gpagkpgrrg ragsdgargm pgqtgpkgdr gfdglaglpg ekghrgdpgp sgppgppgdd
      661 gergddgevg prglpgepgp rgllgpkgpp gppgppgvtg mdgqpgpkgn vgpqgepgpp
      721 gqqgnpgaqg lpgpqgaigp pgekgplgkp glpgmpgadg ppghpgkegp pgekggqgpp
      781 gpqgpigypg prgvkgadgi rglkgtkgek gedgfpgfkg dmgikgdrge igppgprged
      841 gpegpkgrgg pngdpgplgp pgekgklgvp glpgypgrqg pkgsigfpgf pgangekggr
      901 gtpgkpgprg qrgptgprge rgprgitgkp gpkgnsggdg pagppgergp ngpqgptgfp
      961 gpkgppgppg kdglpghpgq rgetgfqgkt gppgppgvvg pqgptgetgp mgerghpgpp
     1021 gppgeqglpg lagkegtkgd pgpaglpgkd gppglrgfpg drglpgpvga lglkgnegpp
     1081 gppgpagspg ergpagaagp igipgrpgpq gppgpagekg apgekgpqgp agrdglqgpv
     1141 glpgpagpvg ppgedgdkge igepgqkgsk gdkgeqgppg ptgpqgpigq pgpsgadgep
     1201 gprgqqglfg qkgdegprgf pgppgpvglq glpgppgekg etgdvgqmgp pgppgprgps
     1261 gapgadgpqg ppggignpga vgekgepgea gepglpgegg ppgpkgerge kgesgpsgaa
     1321 gppgpkgppg ddgpkgspgp vgfpgdpgpp gepgpagqdg ppgdkgddge pgqtgspgpt
     1381 gepgpsgppg krgppgpagp egrqgekgak geaglegppg ktgpigpqga pgkpgpdglr
     1441 gipgpvgeqg lpgspgpdgp pgpmgppglp glkgdsgpkg ekghpgligl igppgeqgek
     1501 gdrglpgpqg ssgpkgeqgi tgpsgpigpp gppglpgppg pkgakgssgp tgpkgeaghp
     1561 gppgppgppg eviqplpiqa srtrrnidas qllddgngen yvdyadgmee ifgslnslkl
     1621 eieqmkrplg tqqnpartck dlqlchpdfp dgeywvdpnq gcsrdsfkvy cnftaggstc
     1681 vfpdkksegs kmarwpkeqp stwysqykrg slvcp
//
LOCUS       XP_016870357             203 aa            linear   PRI 20-MAR-2023
DEFINITION  nicotinamide riboside kinase 1 isoform X1 [Homo sapiens].
ACCESSION   XP_016870357
VERSION     XP_016870357.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014868.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..203
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..203
                     /product="nicotinamide riboside kinase 1 isoform X1"
                     /calculated_mol_wt=23666
     Region          12..164
                     /region_name="NRK1"
                     /note="Nicotinamide riboside kinase (NRK) is an enzyme
                     involved in the metabolism of nicotinamide adenine
                     dinucleotide (NAD+). This enzyme catalyzes the
                     phosphorylation of nicotinamide riboside (NR) to form
                     nicotinamide mononucleotide (NMN). It defines the NR...;
                     cd02024"
                     /db_xref="CDD:238982"
     Site            order(14,19..22)
                     /site_type="active"
                     /db_xref="CDD:238982"
     CDS             1..203
                     /gene="NMRK1"
                     /gene_synonym="bA235O14.2; C9orf95; NRK1"
                     /coded_by="XM_017014868.2:676..1287"
                     /db_xref="GeneID:54981"
                     /db_xref="HGNC:HGNC:26057"
                     /db_xref="MIM:608704"
ORIGIN      
        1 mgkrrhrrgn viscvtnsgk ttlaknlqkh lpncsvisqd dffkpeseie tdkngflqyd
       61 vlealnmekm msaiscwmes arhsvvstdq esaeeipili iegfllfnyk pldtiwnrsy
      121 fltipyeeck rrrstrvyqp pdspgyfdgh vwpmylkyrq emqditwevv yldgtkseed
      181 lflqvyedli qelakqkclq vta
//
LOCUS       XP_047279513             269 aa            linear   PRI 20-MAR-2023
DEFINITION  spermatogenesis associated 6-like protein isoform X1 [Homo
            sapiens].
ACCESSION   XP_047279513
VERSION     XP_047279513.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423557.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..269
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..269
                     /product="spermatogenesis associated 6-like protein
                     isoform X1"
                     /calculated_mol_wt=30663
     CDS             1..269
                     /gene="SPATA6L"
                     /gene_synonym="bA6J24.2; C9orf68"
                     /coded_by="XM_047423557.1:575..1384"
                     /db_xref="GeneID:55064"
                     /db_xref="HGNC:HGNC:25472"
ORIGIN      
        1 mgprplekgc fpgcffrnsk eerhesrrpl stshepifpl ntikmklken nlnrlpkgmq
       61 arapsqystr hffqdqpaql nlgnnfkisg gskppfvvrh vdsakpfgen isehhlrrsr
      121 rkskfsdfpf ptrrasslds laanvkvike pderivlrsd ssscldssqf gksssskqgd
      181 adfhgkasfa tyqhstspgp ldqpllrerf hpgsqstwkn ihervcsllt shraqlhqnk
      241 edstsevnyi ierpsyplkk yslheqryf
//
LOCUS       XP_005262470            1044 aa            linear   PRI 20-MAR-2023
DEFINITION  proto-oncogene DBL isoform X1 [Homo sapiens].
ACCESSION   XP_005262470
VERSION     XP_005262470.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005262413.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1044
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1044
                     /product="proto-oncogene DBL isoform X1"
                     /calculated_mol_wt=120986
     Region          48..188
                     /region_name="SEC14"
                     /note="Domain in homologues of a S. cerevisiae
                     phosphatidylinositol transfer protein (Sec14p);
                     smart00516"
                     /db_xref="CDD:214706"
     Site            order(125,159)
                     /site_type="other"
                     /note="salt bridge"
                     /db_xref="CDD:238099"
     Region          328..519
                     /region_name="SPEC"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; cd00176"
                     /db_xref="CDD:238103"
     Site            427..432
                     /site_type="active"
                     /note="linker region [active]"
                     /db_xref="CDD:238103"
     Region          615..792
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(621,625,722,744..745,748..749,751..752,755..756,
                     759..760,763,788,792)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          799..930
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     CDS             1..1044
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /coded_by="XM_005262413.5:69..3203"
                     /db_xref="GeneID:4168"
                     /db_xref="HGNC:HGNC:6940"
                     /db_xref="MIM:311030"
ORIGIN      
        1 mamalqrvri aekygknylc llqavfvaet dlllrikdis hflmqdiafl sggrgkdnaw
       61 iitfpencnf rcipeeviak vltyltsiar qngsdsrfti ildrrldtws slkislqkis
      121 asfpgnlhlv lvlrptsflq rtftdigfwf sqedfmlklp vvmlssvsdl ltyiddkqlt
      181 pelggtlqyc hsewiifrna ienfaltvke maqmlqsfgt elaetelpdd ipsieeilai
      241 raeryhllkn ditavtkegk illtnlevpd tegavssrle chrqisgdwq tinklltqvh
      301 dmetafdgfw ekhqlkmeqy lqlwkfeqdf qqlvtevefl lnqqaeladv tgtiaqvkqk
      361 ikklenlden sqellskaqf vilhghklaa nhhyaldlic qrcnelryls dilvneikak
      421 riqlsrtfkm hkllqqarqc cdegecllan qeidkfqske daqkalqdie nflemalpfi
      481 nyepetlqye fdvilspelk vqmktiqlkl enirsifenq qagfrnladk hvrpiqfvvp
      541 tpenlvtsgt pffsskqvgv gysffqackl fskgkktwrq nqsnlkievv pdcqekrssg
      601 psssldngns ldvlknhvln eliqtervyv relytvllgy raemdnpemf dlmppllrnk
      661 kdilfgnmae iyefhndifl sslencahap ervgpcfler kddfqmyaky cqnkprseti
      721 wrkysecaff qecqrklkhr lrldsyllkp vqritkyqll lkellkyskd cegsallkka
      781 ldamldllks vndsmhqiai ngyignlnel gkmimqggfs vwighkkgat kmkdlarfkp
      841 mqrhlflyek aivfckrrve sgegsdryps ysfkhcwkmd evgiteyvkg dnrkfeiwyg
      901 ekeevyivqa snvdvkmtwl keirnillkq qelltvkkrk qqdqlterdk fqislqqnde
      961 kqqgafiste etelehtstv vevceaiasv qaeantvwte asqsaeisee paewssnyfy
     1021 ptydeneeen rplmrpvsem ally
//
LOCUS       XP_011529278             363 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ARMCX6 isoform X1 [Homo sapiens].
ACCESSION   XP_011529278
VERSION     XP_011529278.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011530976.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..363
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..363
                     /product="protein ARMCX6 isoform X1"
                     /calculated_mol_wt=39744
     Region          186..358
                     /region_name="Arm_2"
                     /note="Armadillo-like; pfam04826"
                     /db_xref="CDD:428145"
     CDS             1..363
                     /gene="ARMCX6"
                     /gene_synonym="GASP10"
                     /coded_by="XM_011530976.3:235..1326"
                     /db_xref="GeneID:54470"
                     /db_xref="HGNC:HGNC:26094"
                     /db_xref="MIM:301048"
ORIGIN      
        1 maddkwgggg lrpenssqes yksleeaedc yppslltldl rdlfnqveqg pllscpkagt
       61 dlsmgrarev gwmaaglmig agacycvykl tigrddsekl eeegeeewdd dqeldeeepd
      121 iwfdfetmar pwtedgdwte pgapggtedr psgggkanra hpikqrpfpy ehkntwsaqn
      181 ckngscvldl skclfiqgkl lfaepkdagf pfsqdinshl aslsmarnts ptpdptvrea
      241 lcapdnlnas iesqgqikmy inevcretvs rccnsflqqa glnllismtv innmlaksas
      301 dlkfpliseg sgcakvqvlk plmglsekpv lagelvgaqm lfsfmslfir ngnreillet
      361 pap
//
LOCUS       XP_054185874            1058 aa            linear   PRI 20-MAR-2023
DEFINITION  large proline-rich protein BAG6 isoform X9 [Homo sapiens].
ACCESSION   XP_054185874
VERSION     XP_054185874.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329899.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_113891.3) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1058
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..1058
                     /product="large proline-rich protein BAG6 isoform X9"
                     /calculated_mol_wt=111304
     CDS             1..1058
                     /gene="BAG6"
                     /gene_synonym="BAG-6; BAT3; D6S52E; G3"
                     /coded_by="XM_054329899.1:158..3334"
                     /db_xref="GeneID:7917"
                     /db_xref="HGNC:HGNC:13919"
                     /db_xref="MIM:142590"
ORIGIN      
        1 mepndststa veepdslevl vktldsqtrt fivgaqmnvk efkehiaasv sipsekqrli
       61 yqgrvlqddk klqeynvggk vihlverapp qthlpsgass gtgsasathg ggsppgtrgp
      121 gasvhdrnan syvmvgtfnl pseprvrlvm aqhmirdiqt llsrmecrgg pqpqhsqppp
      181 qppavtpepv alssqtsepv eseapprepm eaeeveerap aqnpeltpgp apagptpape
      241 tnapnhpspa eyvevlqelq rlesrlqpfl qryyevlgaa attdynnnhe greedqrlin
      301 lvgeslrllg ntfvalsdlr cnlactpprh lhvvrpmshy ttpmvlqqaa ipiqinvgtt
      361 vtmtgngtrp pptpnaeapp pgpgqassva psstnvessa egapppgpap ppatshprvi
      421 rishqsvepv vmmhmniqds gtqpggvpsa ptgplgppgh gqtlgqqvpg fptaptrvvi
      481 arptppqarp shpggppvsg tlgaglgtna slaqmvsglv gqllmqpvlv aqgtpgmapp
      541 papatasasa gttntattag papggpaqpp ptpqpsmadl qfsqllgnll gpagpgaggs
      601 gvasptitva mpgvpaflqg mtdflqatqt appppppppp pppapeqqtm pppgspsgga
      661 gspgglgles lspefftsvv qgvlssllgs lgaragsses iaafiqrlsg ssnifepgad
      721 galgffgall sllcqnfsmv dvvmllhghf qplqrlqpql rsffhqhylg gqeptpsnir
      781 mathtlitgl eeyvresfsl vqvqpgvdii rtnleflqeq fnsiaahvlh ctdsgfgarl
      841 lelcnqglfe clalnlhclg gqqmelaavi ngrirrmsrg vnpslvswlt tmmglrlqvv
      901 lehmpvgpda ilryvrrvgd ppqplpeepm evqgaerasp epqrenaspa pgttaeeams
      961 rgpppapegg srdeqdgasa etepwaaavp pewvpiiqqd iqsqrkvkpq pplsdaylsg
     1021 mpakrrklrs diqkrlqedp nyspqrfpna qrafaddp
//
LOCUS       XP_054186466             753 aa            linear   PRI 20-MAR-2023
DEFINITION  CCR4-NOT transcription complex subunit 3 isoform X6 [Homo sapiens].
ACCESSION   XP_054186466
VERSION     XP_054186466.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330491.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571056.2) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..753
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..753
                     /product="CCR4-NOT transcription complex subunit 3 isoform
                     X6"
                     /calculated_mol_wt=81741
     CDS             1..753
                     /gene="CNOT3"
                     /gene_synonym="IDDSADF; LENG2; NOT3; NOT3H"
                     /coded_by="XM_054330491.1:1001..3262"
                     /db_xref="GeneID:4849"
                     /db_xref="HGNC:HGNC:7879"
                     /db_xref="MIM:604910"
ORIGIN      
        1 madkrklqge idrclkkvse gveqfediwq klhnaananq kekyeadlkk eikklqrlrd
       61 qiktwvasne ikdkrqlidn rklietqmer fkvveretkt kayskeglgl aqkvdpaqke
      121 keevgqwltn tidtlnmqvd qfesevesls vqtrkkkgdk dkqdrieglk rhiekhryhv
      181 rmletilrml dndsilvdai rkikddveyy vdssqdpdfe eneflyddld ledipqalva
      241 tsppshshme deifnqssst ptsttssspi ppspanctte nseddkkrgr stdsevsqsp
      301 akngskpvhs nqhpqspavp ptypsgpppa asalsttpgn ngvpapaapp salgpkaspa
      361 pshnsgtpap yaqavappap sgpsttqprp psvqpsgggg ggsggggsss ssnssaggga
      421 gkqngatsys svvadspaev alsssggnna ssqalgppsg phnpppstsk epsaaaptga
      481 ggvapgsgnn sggpsllvpl pvnppssptp sfsdakaaga llngppqfst apeikapepl
      541 sslksmaera aissgiedpv ptlhlterdi ilsstsappa saqpplqlse vniplslgvc
      601 plgpvpltke qlyqqameea awhhmphpsd serirqylpr npcptppyhh qmppphsdtv
      661 efyqrlstet lffifyyleg tkaqylaaka lkkqswrfht kymmwfqrhe epktitdefe
      721 qgtyiyfdye kwgqrkkegf tfeyryledr dlq
//
LOCUS       XP_054191028             719 aa            linear   PRI 20-MAR-2023
DEFINITION  choline transporter-like protein 5 isoform X3 [Homo sapiens].
ACCESSION   XP_054191028
VERSION     XP_054191028.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335053.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..719
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..719
                     /product="choline transporter-like protein 5 isoform X3"
                     /calculated_mol_wt=81564
     CDS             1..719
                     /gene="SLC44A5"
                     /gene_synonym="CTL5"
                     /coded_by="XM_054335053.1:647..2806"
                     /db_xref="GeneID:204962"
                     /db_xref="HGNC:HGNC:28524"
ORIGIN      
        1 mndtekpadt pseeedfgdp rtydpdfkgp vanrsctdvl ccmifllcii gyivlglvaw
       61 vhgdprraay ptdsqghfcg qkgtpnenkt ilfyfnllrc tspsvllnlq cpttqicvsk
      121 cpekfltyve mqllytkdks ywedyrqfck ttakpvkslt qllldddcpt aifpskpflq
      181 rcfpdfstkn gtltigskmm fqdgnggtrs vvelgiaang inklldaksl glkvfedyar
      241 twywiliglt iamvlswifl illrfiagcl fwvfmigvig iigygiwhcy qqytnlqerp
      301 ssvltiydig iqtnismyfe lqqtwftfmi ilciievivi lmliflrnri rvaiillkeg
      361 skaigyvpst lvypaltfil lsicicywvv tavflatsgv pvykviapgg hcihenqtcd
      421 peifntteia kacpgalcnf afyggkslyh qyiptfhvyn lfvflwlinf vialgqcala
      481 gafatyywam kkpddipryp lftafgrair yhtgslafgs liialiqmfk ivleyldhrl
      541 krtqntlskf lqcclrccfw clenaikfln rnayimiaiy grnfcrsakd afnllmrnvl
      601 kvavtdevty fvlflgkllv agsigvlafl fftqrlpvia qgpaslnyyw vplltvifgs
      661 yliahgffsv yamcvetifi cfcedlernd gstekpyfvt pnlhgilikk qlvpqkqke
//
LOCUS       XP_054191095             538 aa            linear   PRI 20-MAR-2023
DEFINITION  eyes absent homolog 3 isoform X5 [Homo sapiens].
ACCESSION   XP_054191095
VERSION     XP_054191095.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335120.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..538
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..538
                     /product="eyes absent homolog 3 isoform X5"
                     /calculated_mol_wt=58851
     CDS             1..538
                     /gene="EYA3"
                     /coded_by="XM_054335120.1:156..1772"
                     /db_xref="GeneID:2140"
                     /db_xref="HGNC:HGNC:3521"
                     /db_xref="MIM:601655"
ORIGIN      
        1 meeeqdlpeq prkvkkakmq esgeqtisqv snpdvsdqkp etsslasnlp mseeimtctd
       61 yiprssndyt sqmysakpya hilsvpvset aypgqtqyqt lqqtqpyavy pqatqtyglp
      121 pfasstnasl istsstiani paaavasisn qdyptytilg qnqyqacyps ssfgvtgqtn
      181 sdaesttlaa ttyqsekpsv mapapaaqrl ssgdpstsps lsqttpskdt ddqsrknmts
      241 knrgkrkada tssqdseler vflwdldeti iifhslltgs yaqkygkdpt vvigsgltme
      301 emifevadth lffndleecd qvhvedvasd dngqdlsnys fstdgfsgsg gsgshgssvg
      361 vqggvdwmrk lafryrkvre iydkhksnvg gllspqrkea lqrlraeiev ltdswlgtal
      421 ksllliqsrk ncvnvlittt qlvpalakvl lyglgeifpi eniysatkig kescferivs
      481 rfgkkvtyvv igdgrdeeia akqqlyfldm ealgcqlept alilfiqlsg nlsnynkl
//
LOCUS       XP_054194000             900 aa            linear   PRI 20-MAR-2023
DEFINITION  leucine-rich repeat-containing G-protein coupled receptor 6 isoform
            X3 [Homo sapiens].
ACCESSION   XP_054194000
VERSION     XP_054194000.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338025.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..900
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..900
                     /product="leucine-rich repeat-containing G-protein coupled
                     receptor 6 isoform X3"
                     /calculated_mol_wt=97300
     CDS             1..900
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /coded_by="XM_054338025.1:77..2779"
                     /db_xref="GeneID:59352"
                     /db_xref="HGNC:HGNC:19719"
                     /db_xref="MIM:606653"
ORIGIN      
        1 mrlegegrla ragqnlsrag sarrgaprdl smnnltelqp glfhhlrfle elrlsgnhls
       61 hipgqafsgl yslkilmlqn nqlggipaea lwelpslqsl rldanlislv persfeglss
      121 lrhlwlddna lteipvraln nlpalqamtl alnrishipd yafqnltslv vlhlhnnriq
      181 hlgthsfegl hnletldlny nklqefpvai rtlgrlqelg fhnnnikaip ekafmgnpll
      241 qtihfydnpi qfvgrsafqy lpklhtlsln gamdiqefpd lkgttsleil tltragirll
      301 psgmcqqlpr lrvlelshnq ieelpslhrc qkleeiglqh nriweigadt fsqlsslqal
      361 dltdnqlttl plaglgglmh lklkgnlals qafskdsfpk lrilevpyay qccpygmcas
      421 ffkasgqwea edlhlddees skrplgllar qaenhydqdl delqlemeds kphpsvqcsp
      481 tpgpfkpcey lfeswgirla vwaivllsvl cnglvlltvf aggpaplppv kfvvgaiaga
      541 ntltgiscgl lasvdaltfg qfseygarwe tglgcratgf lavlgseasv llltlaavqc
      601 svsvscvray gkspslgsvr agvlgclala glaaalplas vgeygasplc lpyappegqp
      661 aalgftvalv mmnsfcflvv agayiklycd lprgdfeavw dcamvrhvaw lifadgllyc
      721 pvaflsfasm lglfpvtpea vksvllvvlp lpaclnplly llfnphfrdd lrrlrpragd
      781 sgplayaaag eleksscdst qalvafsdvd lileaseagr ppgletygfp svtliscqqp
      841 gaprlegshc vepegnhfgn pqpsmdgell lraegstpag gglsggggfq psglafashv
//
LOCUS       XP_054220744             706 aa            linear   PRI 20-MAR-2023
DEFINITION  gamma-adducin isoform X1 [Homo sapiens].
ACCESSION   XP_054220744
VERSION     XP_054220744.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364769.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..706
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..706
                     /product="gamma-adducin isoform X1"
                     /calculated_mol_wt=79024
     CDS             1..706
                     /gene="ADD3"
                     /gene_synonym="ADDL; CPSQ3"
                     /coded_by="XM_054364769.1:143..2263"
                     /db_xref="GeneID:120"
                     /db_xref="HGNC:HGNC:245"
                     /db_xref="MIM:601568"
ORIGIN      
        1 mssdasqgvi ttppppsmph keryfdrine ndpeyirern mspdlrqdfn mmeqrkrvtq
       61 ilqspafred lecliqeqmk kghnptglla lqqiadyima nsfsgfsspp lslgmvtpin
      121 dlpgadtssy vkgekltrck laslyrlvdl fgwahlanty isvriskeqd hiiiiprgls
      181 fseatasnlv kvniigevvd qgstnlkidh tgfsphaaiy strpdvkcvi hihtlataav
      241 ssmkcgilpi sqeslllgdv ayydyqgsle eqeeriqlqk vlgpsckvlv lrnhgvvalg
      301 etleeafhyi fnvqlaceiq vqalagaggv dnlhvldfqk ykaftytvaa sggggvnmgs
      361 hqkwkvgeie feglmrtldn lgyrtgyayr hplirekprh ksdveipatv tafsfeddtv
      421 plsplkymaq rqqrektrwl nspntymkvn vpeesrnget sprtkitwmk aedsskvsgg
      481 tpikiedpnq fvplntnpne vlekrnkire qnrydlktag pqsqllagiv vdkppstmqf
      541 edddhgppap pnpfshlteg eleeykrtie rkqqgledae qellsddass vsqiqsqtqs
      601 pqnvpeklee nhelfsksfi smevpvmvvn gkddmhdved elakrvsrls tsttieniei
      661 tikspekiee vlspegspsk spskkkkkfr tpsflkknkk kekvea
//
LOCUS       XP_054220954             480 aa            linear   PRI 20-MAR-2023
DEFINITION  anthrax toxin receptor-like isoform X7 [Homo sapiens].
ACCESSION   XP_054220954
VERSION     XP_054220954.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054364979.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..480
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..480
                     /product="anthrax toxin receptor-like isoform X7"
                     /calculated_mol_wt=53014
     CDS             1..480
                     /gene="ANTXRL"
                     /coded_by="XM_054364979.1:1042..2484"
                     /db_xref="GeneID:195977"
                     /db_xref="HGNC:HGNC:27277"
ORIGIN      
        1 mqagfrkaiq qiesfnsgnk vpsmiiamtd gelvahafqd tlreaqkark lganvytlgv
       61 adynldqita iadspghvfa vengfkalrs tidaltskvc ldvtsveass ecvgepyhvv
      121 ihgngfqnlk krdevicrfi fnestiidek ptsidnnsmn cpgpklekpg eeysievsln
      181 kgktffksnv sitsttcgif rnwlyfvpll llvplllccv wrlcrkqtvk epppmqkpek
      241 epeqekppsp pppppppppp lpppppapvn tcptviiccc gcqgvggmrr iegnldtfcd
      301 lshaschqvp wmccqsrdqg rylslalaqs qyaqapccpr icfphsqecl slpqapcspr
      361 mclrhsrecl alkqarcspn iclrhsqhsr eclarkqapc spriclrhsp eyfsqaqtlc
      421 npksclqpsr eclpltcssr crlpparclr ppsrmlplls pllrhtaepp lslppsepnf
//
LOCUS       XP_054223115             464 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-CoA-binding domain-containing protein 5 isoform X14 [Homo
            sapiens].
ACCESSION   XP_054223115
VERSION     XP_054223115.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367140.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..464
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..464
                     /product="acyl-CoA-binding domain-containing protein 5
                     isoform X14"
                     /calculated_mol_wt=51929
     CDS             1..464
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /coded_by="XM_054367140.1:161..1555"
                     /db_xref="GeneID:91452"
                     /db_xref="HGNC:HGNC:23338"
                     /db_xref="MIM:616618"
ORIGIN      
        1 mpgpplssar halplgswes wcccclipad rpwdrgqhwq lemadtrsvh etrfeaavkv
       61 iqslpkngsf qptnemmlkf ysfykqateg pcklsrpgfw dpigrykwda wsslgdmtke
      121 eamiayveem kkiietmpmt ekveellrvi gpfyeivedk ksgrssdits dlgnvltstp
      181 naktvngkae ssdsgaesee eeaqeevkga eqsdndindd hvedvtgiqh ltsdsdsevy
      241 cdsmeqfgqe esldsftsnn gpfqyylggh ssqpmensgf rediqvppgn gnignmqvva
      301 vegkgevkhg gedgrnnsga phrekrgget defsnvrrgr ghrmqhlseg tkgrqvgsgg
      361 dgerwgsdrg srgslneqia lvlmrlqedm qnvlqrlqkl etltalqaks ststlqtapq
      421 ptsqrpswwp femspgvltf aiiwpfiaqw lvylyyqrrr rkln
//
LOCUS       XP_054226953             342 aa            linear   PRI 20-MAR-2023
DEFINITION  serine dehydratase-like isoform X1 [Homo sapiens].
ACCESSION   XP_054226953
VERSION     XP_054226953.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370978.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..342
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..342
                     /product="serine dehydratase-like isoform X1"
                     /calculated_mol_wt=36109
     CDS             1..342
                     /gene="SDSL"
                     /gene_synonym="cSDH; SDH 2; SDS-RS1; TDH"
                     /coded_by="XM_054370978.1:1074..2102"
                     /db_xref="GeneID:113675"
                     /db_xref="HGNC:HGNC:30404"
ORIGIN      
        1 mlkylqavyl vsrmdgpvae hakqepfhvv tplleswals qvagmpvflk cenvqpsgsf
       61 kirgighfcq emakkgcrhl vcssggnagi aaayaarklg ipativlpes tslqvvqrlq
      121 gegaevqltg kvwdeanlra qelakrdgwe nvppfdhpli wkghaslvqe lkavlrtppg
      181 alvlavgggg llagvvagll evgwqhvpii amethgahcf naaitagklv tlpditsvak
      241 slgaktvaar alecmqvcki hsevvedtea vsavqqlldd ermlvepacg aalaaiysgl
      301 lrrlqaegcl ppsltsvvvi vcggnninsr elqalkthlg qv
//
LOCUS       XP_054227382             822 aa            linear   PRI 20-MAR-2023
DEFINITION  epidermal growth factor receptor kinase substrate 8 isoform X3
            [Homo sapiens].
ACCESSION   XP_054227382
VERSION     XP_054227382.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371407.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..822
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..822
                     /product="epidermal growth factor receptor kinase
                     substrate 8 isoform X3"
                     /calculated_mol_wt=91751
     CDS             1..822
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /coded_by="XM_054371407.1:41..2509"
                     /db_xref="GeneID:2059"
                     /db_xref="HGNC:HGNC:3420"
                     /db_xref="MIM:600206"
ORIGIN      
        1 mnghisnhps sfgmypsqmn gygssptfsq tdrehgskts akalyeqrkn yardsvssvs
       61 disqyrvehl ttfvldrkda mitvddgirk lklldakgkv wtqdmilqvd dravslidle
      121 sknelenfpl ntiqhcqavm hscsydsvla lvckeptqnk pdlhlfqcde vkanlisedi
      181 esaisdskgg kqkrrpdalr misnadpsip ppprapapap pgtvtqvdvr srvaawsawa
      241 adqgdfekpr qyheqeetpe mmaaridrdv qilnhilddi effitklqka aeafselskr
      301 kknkkgkrkg pgegvltlra kppppdefld cfqkfkhgfn llaklkshiq npsaadlvhf
      361 lftplnmvvq atggpelass vlspllnkdt idflnytvng derqlwmslg gtwmkaraew
      421 pkeqfippyv prfrngwepp mlnfmgatme qdlyqlaesv anvaehqrkq eikrlstehs
      481 svseyhpadg yafssniytr gshldqgeaa vafkptsnrh idrnyeplkt qpkkyaksky
      541 dfvarnnsel svlkddilei lddrkqwwkv rnasgdsgfv pnnildivrp pesglgradp
      601 pythtiqkqr meygprpadt ppapsppptp apvpvplpps tpapvpvskv panitrqnss
      661 ssdsggsivr dsqrhkqlpv drrksqmeev qdelihrlti grsaaqkkfh vprqnvpvin
      721 itydstpedv ktwlqskgfn pvtvnslgvl ngaqlfslnk delrtvcpeg arvysqitvq
      781 kaaledssgs selqeimrrr qekisaaasd sgvesfdegs sh
//
LOCUS       XP_054229402             396 aa            linear   PRI 20-MAR-2023
DEFINITION  solute carrier family 41 member 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054229402
VERSION     XP_054229402.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373427.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..396
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..396
                     /product="solute carrier family 41 member 2 isoform X3"
                     /calculated_mol_wt=42970
     CDS             1..396
                     /gene="SLC41A2"
                     /gene_synonym="SLC41A1-L1"
                     /coded_by="XM_054373427.1:371..1561"
                     /db_xref="GeneID:84102"
                     /db_xref="HGNC:HGNC:31045"
                     /db_xref="MIM:610802"
ORIGIN      
        1 mtnskgrsit dktsggpssg ggfvdwtlrl ntiqsdkfln lllsmvpviy qknqedrhkk
       61 angiwqdgls tavqtfsnrs eqhmeyhsfs eqsfhanngh assscsqkyd dyanynycdg
      121 retsettaml qdedissdgd edaivevtpk lpkessgima lqilvpflla gfgtvsagmv
      181 ldivqhwevf rkvtevfilv pallglkgnl emtlasrlst avnigkmdsp iekwnliign
      241 lalkqvqatv vgflaavaai ilgwipegky yldhsillcs ssvatafias llqgiimvgv
      301 ivgskktgin pdnvatpiaa sfgdlitlai lawisqglys cletyyyisp lvgvfflalt
      361 piwiiiaakh patrtvlhsg wepvitamvi srtvke
//
LOCUS       XP_054232810            2576 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger homeobox protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054232810
VERSION     XP_054232810.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376835.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2576
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2576
                     /product="zinc finger homeobox protein 2 isoform X1"
                     /calculated_mol_wt=274517
     CDS             1..2576
                     /gene="ZFHX2"
                     /gene_synonym="MARSIS; ZFH-5; ZFH5; ZNF409"
                     /coded_by="XM_054376835.1:272..8002"
                     /db_xref="GeneID:85446"
                     /db_xref="HGNC:HGNC:20152"
                     /db_xref="MIM:617828"
ORIGIN      
        1 matlnsastt gttpspghna pslpsdtfss stpsdpvtkd ppaasstsen mrssepggql
       61 lesgcglvpp keigepqegp dcghfppndp gvekdkeqee eeeglppmdl snhlfftagg
      121 eaylvaklsl pggselllpk gfpwgeagik eepslpflay pppshltalh iqhgfdpiqg
      181 fsssdqilsh dtsapspaac eerhgafwsy qlapnppgdp kdgpmgnsgg nhvavfwlcl
      241 lcrlgfskpq afmdhtqshg vkltpaqyqg lsgspavlqe gdegckalis flepklparp
      301 ssdipldnss tvnmeanvaq tedgppeaev qalilldeev malsppsppt atwdpsptqa
      361 kespvaagea gpdwfpegqe edgglcppln qssptskegg tlpapvgspe dpsdppqpyr
      421 laddytpapa afqglslssh msllhsrnsc ktlkcpkcnw hykyqqtldv hmrekhpesn
      481 shcsycsagg ahprlarges yncgykpyrc dvcnystttk gnlsihmqsd khlanlqgfq
      541 agpggqgspt easlppsagd kepktksswq ckvcsyetni srnlrihmts ekhmqnvlml
      601 hqglplglpp glmgpgpppp pgatptsppe lfqyfgpqal gqpqtplagp glrpdkplea
      661 qlllngfhhv gaparkfpts apgslspdah lppsqllgss sdslptsppp ddslslkvfr
      721 clvcqafstd slelllyhcs igrslpeaew kevagdthrc klccygtqlk anfqlhlktd
      781 khaqkyqlaa hlregggamg tpspaslgdg apygsvsplh lrcnicdfes nskekmqlha
      841 rgaaheensq iykflldmeg aeagaelgly hcllcawetp srlavlqhlr tpahrdaqaq
      901 rrlqllqngp tteeglaalq silsfshgql rtpgkapvtp laepptpekd aqnkteqlas
      961 eetenktgps rdsanqttvr igvyccpycs flspessqvr ahtlsqhavq pkyrcplcqe
     1021 qlvgrpalhf hlshlhnvvp ecveklllva ttvemtfttk vlsaptlspl dngqeppthg
     1081 peptpsrdqa aegpnltpea spdplpeppl asvevpdkps gspgqppspa pspvpepdaq
     1141 aedvappptm aeeeegttge lrsaepapad srhpltyrkt tnfaldkfld parpykctvc
     1201 kesftqknil lvhynsvshl hkmkkaaidp sapargeaga pptttaatdk pfkctvcrvs
     1261 ynqsstleih mrsvlhqtrs rgtktdskie gpersqeepk egetegevgt ekkgpdtsgf
     1321 isglpflspp pppldlhrfp aplftppvlp pfplvpesll klqqqqlllp fylhdlkvgp
     1381 kltlagpapv lslpaatppp ppqppkaela erewerppma kegneagpss ppdplpneaa
     1441 rtaakallen fgfelviqyn egkqavpppp tppppealgg gdklacgacg klfsnmlilk
     1501 theehvhrrf lpfealsrya aqfrksydsl ypplaeppkp pdgsldspap hlgppflvpe
     1561 peaggtrape ersragghwp ieeeessrgn lpplvpagrr fsrtkftefq tqalqsffet
     1621 saypkdgeve rlasllglas rvvvvwfqna rqkarknace ggsmptgggt ggasgcrrch
     1681 atfscvfelv rhlkkcyddq tleeeeeeae rgeeeeevee eeveeeqgle ppagpegplp
     1741 eppdgeelsq aeatkaggke peekatpsps pahtcdqcai sfssqdllts hrrlhflpsl
     1801 qpsappqlld lpllvfgern plvaatspmp gpplkrkhed gslsptgsea ggggegeppr
     1861 dkrlrttilp eqleilyrwy mqdsnptrkm ldciseevgl kkrvvqvwfq ntrarerkgq
     1921 frstpggvps pavkppatat paslpkfnll lgkvddgtgr eapkreapaf pyptatlasg
     1981 pqpflppgke attptpeppl pllpppppse eegpeeppka speseacsls agdlsdssas
     2041 slaepespga ggtsggpggg tgvpdgmgqr ryrtqmsslq lkimkacyea yrtptmqece
     2101 vlgeeiglpk rviqvwfqna rakekkaklq gtaagstggs regllaaqrt dcpycdvkyd
     2161 fyvscrghlf srqhlaklke avraqlkses kcydlapape appalkappa ttpasmplga
     2221 aptlprlapv llsgpalaqp plgnlapfns gpaassgllg latsvlpttt vvqtagpgrp
     2281 lpqrpmpdqt ntstagttdp vpgppteplg dkvsserkpv agptsssnda lknlkalktt
     2341 vpallggqfl pfplppaggt appavfgpql qgayfqqlyg mkkglfpmnp mipqtligll
     2401 pnallqpppq ppeptatapp kppelpapge geagevdell tgstgistvd vthrylcrqc
     2461 kmafdgeapa tahqrsfcff grgsggsmpp plrvpictyh clacevllsg realashlrs
     2521 sahrrkaapp qggppisitn aataasaava fakeearlph tdsnpktttt stllal
//
LOCUS       XP_054233673             556 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 87A isoform X1 [Homo sapiens].
ACCESSION   XP_054233673
VERSION     XP_054233673.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377698.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..556
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..556
                     /product="transmembrane protein 87A isoform X1"
                     /calculated_mol_wt=63417
     CDS             1..556
                     /gene="TMEM87A"
                     /gene_synonym="ELKIN1"
                     /coded_by="XM_054377698.1:187..1857"
                     /db_xref="GeneID:25963"
                     /db_xref="HGNC:HGNC:24522"
ORIGIN      
        1 maaaawlqvl pvillllgah psplsffsag patvaaadrs kwhipipsgk nyfsfgkilf
       61 rnttiflkfd gepcdlslni twylksadcy neiynfkaee velyleklke krglsgkyqt
      121 ssklfqncse lfktqtfsgd fmhrlpllge kqeakengtn ltfigdktam heplqtwqda
      181 pyifivhigi ssskessken slsnlftmtv evkgpyeylt ledyplmiff mvmcivyvlf
      241 gvlwlawsac ywrdllriqf wigaviflgm lekavfyaef qnirykgesv qgalilaell
      301 savkrslart lviivslgyg ivkprlgvtl hkvvvagaly llfsgmegvl rvtgyfsypl
      361 tlivnlalsa vdacvilwif isltqtmkll klrrnivkls lyrhftntli lavaasivfi
      421 iwttmkfriv tcqsdwrelw vddaiwrllf smilfvimvl wrpsannqrf afsplseeee
      481 edeqkepmlk esfegmkmrs tkqepngnsk vnkaqeddlk wveenvpssv tdvalpalld
      541 sdeermithf erskme
//
LOCUS       XP_054234614             527 aa            linear   PRI 20-MAR-2023
DEFINITION  tetratricopeptide repeat protein 23 isoform X3 [Homo sapiens].
ACCESSION   XP_054234614
VERSION     XP_054234614.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378639.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..527
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..527
                     /product="tetratricopeptide repeat protein 23 isoform X3"
                     /calculated_mol_wt=58894
     CDS             1..527
                     /gene="TTC23"
                     /gene_synonym="HCC-8"
                     /coded_by="XM_054378639.1:392..1975"
                     /db_xref="GeneID:64927"
                     /db_xref="HGNC:HGNC:25730"
ORIGIN      
        1 mqesqethis nhldevvaav sithrkkfqn kllqtalfqp preklhlcee kaksysnshe
       61 ykqavhelvr cvaltricyg dshwklaeah vnlaqgylql kglslqakqh aekarqilan
      121 sivppysent dvfkfsielf htmgrallsl qkfkeaaenl tkaerlskel lqcgriikee
      181 wieiearirl sfaqvyqgqk kskealshyq aaleyveisk getsrecvpi lrelagveqa
      241 lglhdvsinh flqahliils rspsqveaad sahivahaav asgrhehhdv aeqyfqesma
      301 hlkdsegmgr tkflsiqdef chflqmtgqk eratsilres leakveafgd fspevaetyr
      361 llggadlaqg nhsgarkklk kaitratfkn rnwspssdps ehpnqrsvtr rhprsmlips
      421 qqglrmrssf shsretlvsf sqrhfhslmi aawcstvspd pdpliwtagq kdsghpaghg
      481 havhgpqgcf eakagiksqs gllhqhpsgh pagegparhn srlrppp
//
LOCUS       XP_054235822             440 aa            linear   PRI 20-MAR-2023
DEFINITION  clusterin-associated protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054235822
VERSION     XP_054235822.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379847.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..440
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..440
                     /product="clusterin-associated protein 1 isoform X2"
                     /calculated_mol_wt=50747
     CDS             1..440
                     /gene="CLUAP1"
                     /gene_synonym="CFAP22; FAP22; IFT38"
                     /coded_by="XM_054379847.1:58..1380"
                     /db_xref="GeneID:23059"
                     /db_xref="HGNC:HGNC:19009"
                     /db_xref="MIM:616787"
ORIGIN      
        1 mgrgqnpggs pwslwlgsgh ikqtalanwr vllsdftemm ralgyprhis menfrtpnfg
       61 lvsevllwlv kryepqtdip pdvdteqdrv ffikaiaqfm atkahiklnt kklyqadgya
      121 vkellkitsv lynamktkgm egseiveedv nkfkfdlgsk iadlkaarql aseitskgas
      181 lydllgmeve lremrteaia rpleinetek vmriaikeil tqvqktkdll nnvasdeanl
      241 eakiekrkle lernrkrlet lqsvrpcfmd eyekteeelq kqydtylekf qnltyleqql
      301 edhhrmeqer feeakntlcl iqnklkeeek rllksgsndd sdidiqedde sdseleerrl
      361 pkpqtameml mqgrpgkriv gtmqggdsdd nedseeseid meddddeddd ledesislsp
      421 tkpnrrvrks epldesdndf
//
LOCUS       XP_054172049            1019 aa            linear   PRI 20-MAR-2023
DEFINITION  LLGL scribble cell polarity complex component 2 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054172049
VERSION     XP_054172049.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054316074.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1019
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1019
                     /product="LLGL scribble cell polarity complex component 2
                     isoform X4"
                     /calculated_mol_wt=113202
     CDS             1..1019
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /coded_by="XM_054316074.1:373..3432"
                     /db_xref="GeneID:3993"
                     /db_xref="HGNC:HGNC:6629"
                     /db_xref="MIM:618483"
ORIGIN      
        1 mrrflrpghd pvrerlkrdl fqfnktvehg fphqpsalgy spslrilaig trsgaiklyg
       61 apgvefmglh qennavtqih llpgqcqlvt llddnslhlw slkvkggase lqedesftlr
      121 gppgaapsat qitvvlphss cellylgtes gnvfvvqlpa fraledrtis sdavlqrlpe
      181 earhrrvfem vealqehprd pnqiligysr glvviwdlqg srvlyhflss qqleniwwqr
      241 dgrllvschs dgsycqwpvs seaqqpeplr slvpygpfpc kaitrilwlt trqglpftif
      301 qggmprasyg drhcisvihd gqqtafdfts rvigftvlte adpaatfddp yalvvlaeee
      361 lvvidlqtag wppvqlpyla slhcsaitcs hhvsniplkl weriiaagsr qnahfstmew
      421 pidggtsltp appqrdlllt ghedgtvrfw dasgvclrll yklstvrvfl tdtdpnenls
      481 aqgedewppl rkvgsfdpys ddprlgiqki flckysgyla vagtagqvlv lelndeaaeq
      541 aveqveadll qdqegyrwkg herlaarsgp vrfepgfqpf vlvqcqppav vtslalhsew
      601 rlvafgtshg fglfdhqqrr qvfvkctlhp sdqlalegpl srvkslkksl rqsfrrmrrs
      661 rvssrkrhpa gppgeaqegs akaerpglqn melapvqrki earsaedsft gfvrtlyfad
      721 tylkdssrhc pslwagtngg tiyafslrvp paerrmdesv raeqakeiql mhrapvvgil
      781 vldghsvplp eplevahdls kspdmqgshq llvvseeqfk vftlpkvsak lklkltaleg
      841 srvrrvsvah fgsrraedyg ehhlavltnl gdiqvvslpl lkpqvrysci rredvsgias
      901 cvftkygqgf ylispsefer fslstkwlve prclvdsaet knhrpgngag pkkapsrarn
      961 sgtqsdgeek qpglvmeral lsdervlkei qstlegdrgs gnwrshraav gcslsngge
//
LOCUS       XP_054174793             506 aa            linear   PRI 20-MAR-2023
DEFINITION  CUGBP Elav-like family member 4 isoform X5 [Homo sapiens].
ACCESSION   XP_054174793
VERSION     XP_054174793.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318818.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..506
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..506
                     /product="CUGBP Elav-like family member 4 isoform X5"
                     /calculated_mol_wt=54018
     CDS             1..506
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /coded_by="XM_054318818.1:162..1682"
                     /db_xref="GeneID:56853"
                     /db_xref="HGNC:HGNC:14015"
                     /db_xref="MIM:612679"
ORIGIN      
        1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq
       61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt
      121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee
      181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr
      241 mqqmagqmgm fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma
      301 alnmnglaaa pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan
      361 gihpypaqsp taadplqqay agvqqyagpa aypaaygqis qafpqpppmi pqqqregpeg
      421 cnlfiyhlpq efgdaelmqm flpfgnviss kvfvdratnq skcfgfvsfd npasaqtaiq
      481 amngfqigmk rlkvqlkrpk danrpy
//
LOCUS       XP_054176754             892 aa            linear   PRI 20-MAR-2023
DEFINITION  adhesion G protein-coupled receptor E2 isoform X26 [Homo sapiens].
ACCESSION   XP_054176754
VERSION     XP_054176754.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054320779.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..892
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..892
                     /product="adhesion G protein-coupled receptor E2 isoform
                     X26"
                     /calculated_mol_wt=97569
     CDS             1..892
                     /gene="ADGRE2"
                     /gene_synonym="CD312; CD97; EMR2; VBU"
                     /coded_by="XM_054320779.1:23..2701"
                     /db_xref="GeneID:30817"
                     /db_xref="HGNC:HGNC:3337"
                     /db_xref="MIM:606100"
ORIGIN      
        1 mvetpaegfl kqlhrqfrgg pwasgcpppl lykvlasgqp aqlpslrrrd spvpltlspa
       61 apagssagtm ggrvflvfla fcvwltlpga etqdsrgcar wcpqdsscvn atacrcnpgf
      121 ssfseiittp metcddinec atlskvscgk fsdcwntegs ydcvcspgye pvsgaktfkn
      181 esentcqdvd ecqqnprlck sygtcvntlg sytcqclpgf kfipedpkvc tdvnectsgq
      241 npchssthcl nnvgsyqcrc rpgwqpipgs pngpnntvce dvdecssgqh qcdsstvcfn
      301 tvgsyscrcr pgwkprhgip nnqkdtvced mtfstwtppp gvhsqtlsrf fdkvqdlgrd
      361 ykpglannti qsilqaldel levpgdletl prlqqhcvas hlldgledvl rglsknlsng
      421 llnfsypagt elslevqkqv drsvtlrqnq avmqldwnqa qksgdpgpsv vglvsipgmg
      481 kllaeaplvl epekqmllhe thqgllqdgs pillsdvisa flsnndtqnl sspvtftfsh
      541 rsviprqkvl cvfwehgqng cghwattgcs tigtrdtsti crcthlssfa vlmahydvqe
      601 edpvltvity mglsvsllcl llaaltfllc kaiqntstsl hlqlslclfl ahllflvaid
      661 qtghkvlcsi iagtlhylyl atltwmllea lylfltarnl tvvnyssinr fmkklmfpvg
      721 ygvpavtvai saasrphlyg tpsrcwlqpe kgfiwgflgp vcaifsvnlv lflvtlwilk
      781 nrlsslnsev stlrntrmla fkataqlfil gctwclgilq vgpaarvmay lftiinslqg
      841 vfiflvycll sqqvreqygk wskgirklkt esemhtlsss akadtskpst tc
//
LOCUS       XP_054177419             443 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 302 isoform X2 [Homo sapiens].
ACCESSION   XP_054177419
VERSION     XP_054177419.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321444.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..443
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..443
                     /product="zinc finger protein 302 isoform X2"
                     /calculated_mol_wt=50445
     CDS             1..443
                     /gene="ZNF302"
                     /gene_synonym="HSD16; MST154; MSTP154; ZNF135L; ZNF140L;
                     ZNF327"
                     /coded_by="XM_054321444.1:188..1519"
                     /db_xref="GeneID:55900"
                     /db_xref="HGNC:HGNC:13848"
ORIGIN      
        1 msqrqypecy lapngclvsn cgvnkmsnee lvgqnhgmeg eactggdvtf sdvaidfshe
       61 ewacldsaqr dlykdvmvqn yenlvsvgls vtkpyvimll edgkepwmme kklskdwesr
      121 wenkelstkk diydedspqp vtmekvvkqs yefsnsnknl eytecdtfrs tfhskstlse
      181 pqnnsaegns hkydilkknl skksvikser inggkkllns nksgaafnqs ksltlpqtcn
      241 rekiytcsec gkafgkqsil srhwrihtge kpyecrecgk tfshgssltr hqishsgekp
      301 ykciecgkaf shgssltnhq sthtgekpye cmncgksfsr vslliqhlri htqekhyecr
      361 icgkafihss slihhqksht gekpyecrec gkafccsshl tqhqrihsmk kkyecnkclk
      421 vfssfsflvq hqsihteekp fev
//
LOCUS       XP_054178213             246 aa            linear   PRI 20-MAR-2023
DEFINITION  pre-B-cell leukemia transcription factor 4 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054178213
VERSION     XP_054178213.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322238.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..246
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..246
                     /product="pre-B-cell leukemia transcription factor 4
                     isoform X3"
                     /calculated_mol_wt=27033
     CDS             1..246
                     /gene="PBX4"
                     /coded_by="XM_054322238.1:59..799"
                     /db_xref="GeneID:80714"
                     /db_xref="HGNC:HGNC:13403"
                     /db_xref="MIM:608127"
ORIGIN      
        1 maapprpaps ppaprrldts dvlqqimait dqsldeaqar khalnchrmk palfsvlcei
       61 kektassflt rpceettkqa flvsirgiqd edppdaqllr ldnmllaegv crpekrgrgg
      121 avaragtatp ggcpndnsie hsdyraklsq irqiyhsele kyeqacreft thvtnllqeq
      181 srmrpvspke iermvgaihg kfsaiqmqlk qstceavmtl rsrlldarsg paqaaefqqa
      241 gdgsae
//
LOCUS       XP_054178488             165 aa            linear   PRI 20-MAR-2023
DEFINITION  carcinoembryonic antigen-related cell adhesion molecule 21 isoform
            X6 [Homo sapiens].
ACCESSION   XP_054178488
VERSION     XP_054178488.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322513.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..165
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..165
                     /product="carcinoembryonic antigen-related cell adhesion
                     molecule 21 isoform X6"
                     /calculated_mol_wt=17852
     CDS             1..165
                     /gene="CEACAM21"
                     /gene_synonym="CEACAM3; R29124_1"
                     /coded_by="XM_054322513.1:243..740"
                     /db_xref="GeneID:90273"
                     /db_xref="HGNC:HGNC:28834"
                     /db_xref="MIM:618191"
ORIGIN      
        1 maprhfllvt lstesvaqps iqassttvte kgsvvltcht nntgtsfqwi fnnqrlqvtk
       61 rmklswfnhv ltidpirqed ageyqcevsn pvssnrsdpl kltvksddnt lgiligvlvg
      121 sllvaalvcf lllrktgras dqsdfreqqp pastpghgps dssis
//
LOCUS       XP_054197209             963 aa            linear   PRI 20-MAR-2023
DEFINITION  SH3 domain-binding protein 4 isoform X1 [Homo sapiens].
ACCESSION   XP_054197209
VERSION     XP_054197209.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341234.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..963
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..963
                     /product="SH3 domain-binding protein 4 isoform X1"
                     /calculated_mol_wt=107365
     CDS             1..963
                     /gene="SH3BP4"
                     /gene_synonym="BOG25; TTP"
                     /coded_by="XM_054341234.1:496..3387"
                     /db_xref="GeneID:23677"
                     /db_xref="HGNC:HGNC:10826"
                     /db_xref="MIM:605611"
ORIGIN      
        1 maaqriraan snglprckse gtlidlsegf setsfndikv pspsallvdn ptpfgnakev
       61 iaikdycptn fttlkfskgd hlyvldtsgg ewwyahntte mgyipssyvq plnyrnstls
      121 dsgmidnlpd spdevakele llggwtddkk vpgrmysnnp fwngvqtnpf lngnvpvmps
      181 ldelnpkstv dlllfdagts sftesssatt nstgnifdel pvtnglhaep pvrrdnpffr
      241 skrsyslsel svlqaksdap tsssfftglk spapeqfqsr edfrtawlnh rklarschdl
      301 dllgqspgwg qtqavetniv ckldssggav qlpdtsisih vpeghvapge tqqismkall
      361 dpplelnsdr scsispvlev klsnlevkts iilemkvsae ikndlfskst vglqclrsds
      421 kegpyvsvpl ncscgdtvqa qlhnlepcmy vavvahgpsi lypstvwdfi nkkvtvglyg
      481 pkhihpsfkt vvtifghdca pktllvsevt rqapnpapva lqlwgkhqfv lsrpqdlkvc
      541 mfsnmtnyev kaseqakvvr gfqlklgkvs rlifpitsqn pnelsdftlr vqvkddqeai
      601 ltqfcvqtpq pppksaikps gqrrflkkne vgkiilspfa tttkyptfqd rpvsslkfgk
      661 llktvvrqnk nhylleykkg dgiallseer vrlrgqlwtk ewyigyyqgr vglvhtknvl
      721 vvgrarpslc sgpelstsvl leqilrpckf ltyiyasvrt llmenisswr sfadalgyvn
      781 lpltffcrae ldsepervas vleklkedcn ntenkerksf qkelvmallk mdcqglvvrl
      841 iqdfvlltta vevaqrwrel aeklakvskq qmdayesphr drngvvdsea mwkpaydfll
      901 twshqigdsy rdviqelhlg ldkmknpitk rwkhltgtli lvnsldvlra aafspadqdd
      961 fvi
//
LOCUS       XP_054198096             741 aa            linear   PRI 20-MAR-2023
DEFINITION  alpha-1,6-mannosylglycoprotein
            6-beta-N-acetylglucosaminyltransferase A isoform X1 [Homo sapiens].
ACCESSION   XP_054198096
VERSION     XP_054198096.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342121.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..741
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..741
                     /product="alpha-1,6-mannosylglycoprotein
                     6-beta-N-acetylglucosaminyltransferase A isoform X1"
                     /calculated_mol_wt=84412
     CDS             1..741
                     /gene="MGAT5"
                     /gene_synonym="glcNAc-T V; GNT-V; GNT-VA; MGAT5A"
                     /coded_by="XM_054342121.1:496..2721"
                     /db_xref="GeneID:4249"
                     /db_xref="HGNC:HGNC:7049"
                     /db_xref="MIM:601774"
ORIGIN      
        1 malftpwkls sqklgfflvt fgfiwgmmll hftiqqrtqp esssmlreqi ldlskryika
       61 laeenrnvvd gpyagvmtay dlkktlavll dnilqrigkl eskvdnlvvn gtgtnstnst
      121 tavpslvale kinvadiing aqekcvlppm dgyphcegki kwmkdmwrsd pcyadygvdg
      181 stcsffiyls evenwcphlp wraknpyeea dhnslaeirt dfnilysmmk kheefrwmrl
      241 rirrmadawi qaikslaekq nlekrkrkkv lvhlglltke sgfkiaetaf sggplgelvq
      301 wsdlitslyl lghdirisas laelkeimkk vvgnrsgcpt vgdriveliy idivglaqfk
      361 ktlgpswvhy qcmlrvldsf gtepefnhan yaqskghktp wgkwnlnpqq fytmfphtpd
      421 nsflgfvveq hlnssdihhi neikrqnqsl vygkvdsfwk nkkiyldiih tymevhatvy
      481 gsstknipsy vknhgilsgr dlqfllretk lfvglgfpye gpapleaian gcaflnpkfn
      541 ppksskntdf figkptlrel tsqhpyaevf igrphvwtvd lnnqeeveda vkailnqkie
      601 pympyeftce gmlqrinafi ekqdfchgqv mwpplsalqv klaepgqsck qvcqesqlic
      661 epsffqhlnk dkdmlkykvt cqsselakdi lvpsfdpknk hcvfqgdlll fscagahprh
      721 qrvcpcrdfi kgqvalckdc l
//
LOCUS       XP_054199118            4858 aa            linear   PRI 20-MAR-2023
DEFINITION  baculoviral IAP repeat-containing protein 6 isoform X15 [Homo
            sapiens].
ACCESSION   XP_054199118
VERSION     XP_054199118.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343143.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4858
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..4858
                     /product="baculoviral IAP repeat-containing protein 6
                     isoform X15"
                     /calculated_mol_wt=530554
     CDS             1..4858
                     /gene="BIRC6"
                     /gene_synonym="APOLLON; BRUCE"
                     /coded_by="XM_054343143.1:140..14716"
                     /db_xref="GeneID:57448"
                     /db_xref="HGNC:HGNC:13516"
                     /db_xref="MIM:605638"
ORIGIN      
        1 mvtgggaapp gtvteplpsv ivlsagrkma aaaaaasgpg cssaagagaa gvsewlvlrd
       61 gcmhcdadgl hslsyhpaln ailavtsrgt ikvidgtsga tlqasalsak pggqvkcqyi
      121 savdkvifvd dyavgcrkdl ngillldtal qtpvskqddv vqlelpvtea qqllsaclek
      181 vdisstegyd lfitqlkdgl kntshetaan hkvakwatvt fhlphhvlks iasaivnelk
      241 kinqnvaalp vassvmdrls yllpsarpel gvgpgrsvdr slmyseanrr etftswphvg
      301 yrwaqpdpma qagfyhqpas sgddramcft csvclvcwep tdepwseher hspncpfvkg
      361 ehtqnvplsv tlatspaqfp ctdgtdrisc fgsgscphfl aaatkrgkic iwdvsklmkv
      421 hlkfeinayd paivqqlils gdpssgvdsr rptlawleds sscsdipkle gdsddlleds
      481 dseehsrsds vtghtsqkea mevsldital silqqpeklq weivanvled tvkdleelga
      541 npcltnskse ktkekhqeqh nipfpcllag glltykspat spissnshrs ldglsrtqge
      601 siseqgstdn esctnselns plvrrtlpvl llysikesde kagkifsqmn nimskslhdd
      661 gftvpqiiem eldsqeqlll qdppvtyiqq fadaaanlts pdsekwnsvf pkpgtlvqcl
      721 rlpkfaeeen lcidsitpca dgihllvglr tcpveslsai nqvealnnln klnsalcnrr
      781 kgelesnlav vnganisviq hespadvqtp liiqpeqrnv sggylvlykm nyatrivtle
      841 eepikiqhik dpqdtitsli llppdildnr eddceepied mqltskngfe rektsdistl
      901 ghlvittqgg yvkildlsnf eilakveppk kegteeqdtf vsviycsgtd rlcactkgge
      961 lhflqiggtc ddideadilv dgslskgiep ssegskplsn psspgisgvd llvdqpftle
     1021 iltslveltr fetltprfsa tvppcwvevq qeqqqrrhpq hlhqqhhgda aqhtrtwklq
     1081 tdsnswdehv felvlpkacm vghvdfkfvl nsnitnipqi qvtllknkap glgkvnetav
     1141 drqitfplsp alnieveqng kpslvdlnee mqhmdveesq clrlcpfled hkedilcgpv
     1201 wlasgldlsg hagmltltsp klvkgmaggk yrsflihvka vnergteeic nggmrpvvrl
     1261 pslkhqsnkg yslasllakv aagkekssnv knentsgtrk senlrgcdll qevsvtirrf
     1321 kktsiskerv qrcamlqfse fhekllntlc rktddgqite haqslvldtl cwlagvhsng
     1381 pgsskegnen llsktrkfls divrvcffea grsiahkcar flalcisngk cdpcqpafgp
     1441 vllkalldnm sflpaattgg svywyfvlln yvkdedlagc stacasllta vsrqlqdrlt
     1501 pmeallqtry glysspfdpv lfdlemsgss cknvynssig vqsdeidlsd vlsgngkvss
     1561 ctaaegsfts ltgllevepl hftcvstsdg trierddast ftvssfgvtp avgglssgtv
     1621 geastalssa aqvalqslsh amasaeqqlq vlqekqqqll klqqqkakle aklhqttaaa
     1681 aaaasavgpv hnsvpsnpva apgffihpsd vipptpkttp lfmtppltpp neavsvvina
     1741 elaqlfpgsv idppavnlaa hnknsnksrm nplgsglala ishashflqp pphqsiiier
     1801 mhsgarrfvt ldfgrpillt dvliptcgdl aslsidiwtl geevdgrrlv vatdisthsl
     1861 ilhdlipppv crfmkitvig rygstnarak iplgfyyght yilpweselk lmhdplkgeg
     1921 esanqpeidq hlammvalqe diqcrynlac hrletllqsi dlpplnsann aqyflrkpdk
     1981 aveedsrvfs ayqdciqlql qlnlahnavq rlkvalgasr kmlsetsnpe dliqtssteq
     2041 lrtiirylld tllsllhasn vlqstfhaqa ceelfkhlci sgtpkirlht glllvqlcgg
     2101 erwwgqflsn vlqelynseq llifpqdrvf mllscigqrs lsnsgvlesl lnlldnllsp
     2161 lqpqlpmhrr tegvldipmi swvvmlvsrl ldyvatvede aaaakkplng kdrerfltgn
     2221 qwsfinnnlh tqslnrsskg sssldrlysr kirkqlvhhk qqlnllkakq kalveqmeke
     2281 kiqsnkgssy kllveqaklk qatskhfkdl irlrrtaews rsnldtevtt akespeiepl
     2341 pftlaherci svvqklvlfl lsmdftchad lllfvckvla rianatrpti hlceivnepq
     2401 lerlllllvg tdfnrgdisw ggawaqyslt cmlqdilage llapvaaeam eegtvgddvg
     2461 atagdsddsl qqssvqllet ideplthdit gapplsslek dkeidlellq dlmevdidpl
     2521 didlekdpla akvfkpisst wydywgadyg tynynpyigg lgipvakppa ntekngsqtv
     2581 svsvsqalda rlevgleqqa elmlkmmstl eadsilqalt ntsptlsqsp tgtddsllgg
     2641 lqaanqtsql iiqlssvpml nvcfnklfsm lqvhhvqles llqlwltlsl nssstgnken
     2701 gadiflynan ripvislnqa sitsfltvla wypntllrtw clvlhsltlm tnmqlnsgss
     2761 saigtqesta hllvsdpnli hvlvkflsgt sphgtnqhsp qvgptatqam qefltrlqvh
     2821 lsstcpqifs efllklihil stergafqtg qgpldaqvkl leftleqnfe vvsvstisav
     2881 iesvtflvhh yitcsdkvms rsgsdssvga racfgglfan lirpgdakav cgemtrdqlm
     2941 fdllklvnil vqlplsgnre ysarvsvttn ttdsvsdeek vsggkdgngs stsvqgspay
     3001 vadlvlanqq imsqilsalg lcnssamami igasglhltk henfhgglda isvgdglfti
     3061 lttlskkast vhmmlqpilt ymacgymgrq gslatcqlse pllwfilrvl dtsdalkafh
     3121 dmggvqlicn nmvtstraiv ntarsmvsti mkfldsgpnk avdstlktri lasepdnaeg
     3181 ihnfaplgti tsssptaqpa evllqatpph rrarsaawsy iflpeeawcd ltihlpaavl
     3241 lkeihiqphl aslatcpssv svevsadgvn mlplstpvvt sgltyikiql vkaevasavc
     3301 lrlhrprdas tlglsqikll gltafgttss atvnnpflps edqvsktsig wlrllhhclt
     3361 hisdlegmma saaaptanll qtcaallmsp ycgmhspnie vvlvkiglqs triglklidi
     3421 llrncaasgs dptdilyqlg ttqdpgtkdr iqallkwvsd sarvaamkrs grmnymcpns
     3481 stveygllmp spshlhcvaa ilwhsyellv eydlpalldq elfellfnws mslpcnmvlk
     3541 kavdsllcsm chvhpnyfsl lmgwmgitpp pvqchhrlsm tddskkqdls ssltddskna
     3601 qaplaltesh latlasssqs peaikqllds glpsllvrsl asfcfshiss sesiaqsidi
     3661 sqdklrrhhv pqqcnkmpit adlvapilrf ltevgnshim kdwlggsevn plwtallfll
     3721 chsgstsgsh nlgaqqtsar saslssaatt glttqqrtai enatvafflq cischpnnqk
     3781 lmaqvlcelf qtspqrgnlp tsgnisgfir rlflqlmled ekvtmflqsp cplykgrina
     3841 tshviqhpmy gaghkfrtlh lpvsttlsdv ldrvsdtpsi takliseqkd dkekknheek
     3901 ekvkaengfq dnysvvvasg lksqskravs atpprppsrr grtipdkigs tsgaeaanki
     3961 itvpvfhlfh kllagqplpa emtlaqlltl lydrklpqgy rsidltvklg srvitdpsls
     4021 ktdsykrlhp ekdhgdllas cpedealtpg decmdgilde slletcpiqs plqvfagmgg
     4081 laliaerlpm lypeviqqvs apvvtsttqe kpkdsdqfew vtieqsgelv yeapetvaae
     4141 pppiksavqt mspipahsla afglflrlpg yaevllkerk haqcllrlvl gvtddgegsh
     4201 ilqspsanvl ptlpfhvlrs lfsttplttd dgvllrrmal eigalhlilv clsalshhsp
     4261 rvpnssvnqt epqvssshnp tsteeqqlyw akgtgfgtgs tasgwdveqa ltkqrleeeh
     4321 vtcllqvlas yinpvssavn geaqsshetr gqnsnalpsv llellsqscl ipamssylrn
     4381 dsvldmarhv plyrallell raiascaamv plllplsten geeeeeqsec qtsvgtllak
     4441 mktcvdtytn rlrskrenvk tgvkpdasdq epegltllvp diqktaeivy aattslrqan
     4501 qekklgeysk kaamkpkpls vlksleekyv avmkklqfdt femvsededg klgfkvnyhy
     4561 msqvknanda nsaararrla qeavtlstsl plsssssvfv rcdeerldim kvlitgpadt
     4621 pyangcfefd vyfpqdypss pplvnlettg ghsvrfnpnl yndgkvclsi lntwhgrpee
     4681 kwnpqtssfl qvlvsvqsli lvaepyfnep gyersrgtps gtqssreydg nirqatvkwa
     4741 mleqirnpsp cfkevihkhf ylkrveimaq ceewiadiqq yssdkrvgrt mshhaaalkr
     4801 htaqlreell klpcpegldp dtddapevcr attgaeetlm hdqvkpsssk elpsdfql
//
LOCUS       XP_054199913             467 aa            linear   PRI 20-MAR-2023
DEFINITION  glycosyltransferase-like domain-containing protein 1 isoform X6
            [Homo sapiens].
ACCESSION   XP_054199913
VERSION     XP_054199913.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343938.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..467
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..467
                     /product="glycosyltransferase-like domain-containing
                     protein 1 isoform X6"
                     /calculated_mol_wt=53309
     CDS             1..467
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa"
                     /coded_by="XM_054343938.1:192..1595"
                     /db_xref="GeneID:79712"
                     /db_xref="HGNC:HGNC:20887"
                     /db_xref="MIM:610165"
ORIGIN      
        1 mgseglngpm siliieafyg gshkqlvdll qeelgdcvvy tlpakkwhwr artsalyfsq
       61 tipisehyrt lfassvlnlt elaalrpdlg klkkilyfhe nqliypvkkc qerdfqygyn
      121 qilsclvadv vvfnsvfnme sfltsmgkfm klipdhrpkd lesiirpkcq viyfpirfpd
      181 vsrfmpkhkt thlkkmlglk gnggavlsma lpfqpeqrds edllknfnse cdthcgldta
      241 rqeylgnslr qesdlkksts sdnssshhge nkqnltvdpc dilggvdnqq rllhivwphr
      301 wehdkdpesf fkvlmhlkdl glnfhvsvlg etftdvpdif seakkalgss vlhwgylpsk
      361 ddyfqvlcma dvvistakhe ffgvamleav ycgcyplcpk dlvypeifpa eylystpeql
      421 skrlqnfckr pdiirkhlyk geiapfswaa lhgkfrsllt tepredl
//
LOCUS       XP_054181080             180 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 54 isoform X7 [Homo
            sapiens].
ACCESSION   XP_054181080
VERSION     XP_054181080.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325105.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..180
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..180
                     /product="ankyrin repeat domain-containing protein 54
                     isoform X7"
                     /calculated_mol_wt=20332
     CDS             1..180
                     /gene="ANKRD54"
                     /gene_synonym="LIAR"
                     /coded_by="XM_054325105.1:260..802"
                     /db_xref="GeneID:129138"
                     /db_xref="HGNC:HGNC:25185"
                     /db_xref="MIM:613383"
ORIGIN      
        1 mpmmwkqcss cwkmaripvq lmtraaqlyt lphamamtrl llldhgadpn qrdglgntpl
       61 hlaactnhvp vittllrgga rvdaldragr tplhlakskl nilqeghaqc leavrlevkq
      121 iihmlreyle rlgqheqrer lddlctrlqm tstkeqvdev tdllasftsl slqmqsmekr
//
LOCUS       XP_054181515             643 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA (uracil-5-)-methyltransferase homolog A isoform X1 [Homo
            sapiens].
ACCESSION   XP_054181515
VERSION     XP_054181515.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325540.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..643
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..643
                     /product="tRNA (uracil-5-)-methyltransferase homolog A
                     isoform X1"
                     /calculated_mol_wt=70704
     CDS             1..643
                     /gene="TRMT2A"
                     /gene_synonym="HTF9C"
                     /coded_by="XM_054325540.1:197..2128"
                     /db_xref="GeneID:27037"
                     /db_xref="HGNC:HGNC:24974"
                     /db_xref="MIM:611151"
ORIGIN      
        1 msenldnegp kpmescgqes ssalscptvs vppaapaale evekegagaa tgpgpqpgly
       61 syirddlfts eifklelqnv prhasfsdvr rflgrfglqp hktklfgqpp cafvtfrsaa
      121 erdkalrvlh galwkgrpls vrlarpkadp marrrrqege seppvtrvad vvtplwtvpy
      181 aeqlerkqle ceqvlqklak eigstnrall pwlleqrhkh nkaccplegv rpspqqteyr
      241 nkceflvgvg vdgedntvgc rlgkykggtc avaapfdtvh ipeatkqvvk afqefirstp
      301 ysaydpetyt ghwkqltvrt srrhqamaia yfhpqklspe elaelktsla qhftagpgra
      361 sgvtclyfve egqrktpsqe glplehvagd rcihedllgl tfrisphaff qvntpaaevl
      421 ytviqdwaql dagsmvldvc cgtgtiglal argpmysppw vgrhhaflfq kvkrvigvel
      481 cpeavedarv naqdnelsnv efhcgraedl vptlvsrlas qhlvaildpp raglhskvil
      541 airraknlrr llyvscnpra amgnfvdlcr apsnrvkgip frpvkavavd lfpqtphcem
      601 lilfervehp ngtgvlgphs ppaqptpgpp dntlqetgtf pss
//
LOCUS       XP_054181539             262 aa            linear   PRI 20-MAR-2023
DEFINITION  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X3
            [Homo sapiens].
ACCESSION   XP_054181539
VERSION     XP_054181539.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325564.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..262
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..262
                     /product="haloacid dehalogenase-like hydrolase
                     domain-containing 5 isoform X3"
                     /calculated_mol_wt=28921
     CDS             1..262
                     /gene="HDHD5"
                     /gene_synonym="CECR5"
                     /coded_by="XM_054325564.1:183..971"
                     /db_xref="GeneID:27440"
                     /db_xref="HGNC:HGNC:1843"
ORIGIN      
        1 mafplldmvd lerrlkttpl prndfprieg vlllgepvrw etslqlimdv llsngspgag
       61 latppyphlp vlasnmdllw maeakmprfg hgtfllclet iyqkvtgkel ryeglmgkps
      121 iltyqyaedl irrqaerrgw aapirklyav gdnpmsdvyg anlfhqylqk athdgapelg
      181 aggtrqqqps asqscisilv ctgvynprnp qstepvlggg eppfhghrdl cfspglmeas
      241 hvvndvneav qlvfrkegwa le
//
LOCUS       XP_054201520             898 aa            linear   PRI 20-MAR-2023
DEFINITION  protein ECT2 isoform X5 [Homo sapiens].
ACCESSION   XP_054201520
VERSION     XP_054201520.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345545.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..898
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..898
                     /product="protein ECT2 isoform X5"
                     /calculated_mol_wt=101855
     CDS             1..898
                     /gene="ECT2"
                     /gene_synonym="ARHGEF31"
                     /coded_by="XM_054345545.1:478..3174"
                     /db_xref="GeneID:1894"
                     /db_xref="HGNC:HGNC:3155"
                     /db_xref="MIM:600586"
ORIGIN      
        1 maensvltst tgrtsladss ifdskvteis kenlligsts yveeempqie trvilvqeag
       61 kqeelikalk dikvgfvkme sveefeglds pefenvfvvt dfqdsvfndl ykadcrvigp
      121 pvvlncsqkg eplpfscrpl yctsmmnlvl cftgfrkkee lvrlvtlvhh mggvirkdfn
      181 skvthlvanc tqgekfrvav slgtpimkpe wiykawerrn eqdfyaavdd frnefkvppf
      241 qdcilsflgf sdeektnmee mtemqggkyl plgdercthl vveenivkdl pfepskklyv
      301 vkqewfwgsi qmdaragetm ylyekantpe lkksvsmlsl ntpnsnrkrr rlketlaqls
      361 retdvspfpp htpksctkss ksstpvpskq sarwqvakel yqtesnyvni latiiqlfqv
      421 pleeegqrgg pilapeeikt ifgsipdifd vhtkikddle dlivnwdesk sigdiflkys
      481 kdlvktyppf vnffemsket iikcekqkpr fhaflkinqa kpecgrqslv ellirpvqrl
      541 psvalllndl kkhtadenpd kstlekaigs lkevmthine dkrkteaqkq ifdvvyevdg
      601 cpanllsshr slvqrvetis lgehpcdrge qvtlflfndc leiarkrhkv igtfrsphgq
      661 trppaslkhi hlmplsqikk vldiretedc hnafallvrp pteqanvlls fqmtsdelpk
      721 enwlkmlcrh vantickada enliytadpe sfevntkdmd stlsrasrai kktskkvtra
      781 fsfsktpkra lrralmtshg svegrspssn dkhvmsrlss tsslaithsv stsnvigftk
      841 hvyvqrlnst ggrsqyswfq svrhsafras fseilegntd fsnfkkvlsk ssltfvkn
//
LOCUS       XP_054202184            2251 aa            linear   PRI 20-MAR-2023
DEFINITION  golgin subfamily A member 4 isoform X7 [Homo sapiens].
ACCESSION   XP_054202184
VERSION     XP_054202184.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346209.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2251
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2251
                     /product="golgin subfamily A member 4 isoform X7"
                     /calculated_mol_wt=262967
     CDS             1..2251
                     /gene="GOLGA4"
                     /gene_synonym="CRPF46; GCP2; GOLG; MU-RMS-40.18; p230"
                     /coded_by="XM_054346209.1:547..7302"
                     /db_xref="GeneID:2803"
                     /db_xref="HGNC:HGNC:4427"
                     /db_xref="MIM:602509"
ORIGIN      
        1 mrsrtssfte qldegtpnre llagmiaepa flseytifal dsskhpktqs dsvnasthas
       61 kspdsvngse psipqsgdtq sfaqklqlrv psveslfrsp ikeslfrsss keslvrtssr
      121 eslnrldlds stasfdppsd mdseaedlvg nsdslnkeql iqrlrrmers lssyrgkyse
      181 lvtayqmlqr ekkklqgils qsqdkslrri aelreelqmd qqakkhlqee fdasleekdq
      241 yisvlqtqvs llkqrlrngp mnvdvlkplp qlepqaevft keenpesdge pvvedgtsvk
      301 tletlqqrvk rqenllkrck etiqshkeqc tlltsekeal qeqlderlqe lekikdlhma
      361 ektklitqlr daknlieqle qdkgmviaet krqmhetlem keeeiaqlrs rikqmttqge
      421 elreqkekse raafeeleka lstaqkteea rrklkaemde qiktiektse eerislqqel
      481 srvkqevvdv mkksseeqia klqklhekel arkeqeltkk lqtrerefqe qmkvaleksq
      541 seylkisqek eqqeslalee lelqkkailt esenklrdlq qeaetyrtri lelessleks
      601 lqenknqskd lavhleaekn khnkeitvmv ekhktelesl khqqdalwte klqvlkqqyq
      661 temeklrekc eqeketllkd keiifqahie emnektlekl dvkqtelesl sselsevlka
      721 rhkleeelsv lkdqtdkmkq eleakmdeqk nhhqqqvdsi ikehevsiqr tekalkdqin
      781 qlelllkerd khlkehqahv enleadikrs egelqqasak ldvfqsyqsa theqtkayee
      841 qlaqlqqkll dleterillt kqvaeveaqk kdvcteldah kiqvqdlmqq lekqnsemeq
      901 kvksltqvye skledgnkeq eqtkqilvek enmilqmreg qkkeieiltq klsakedsih
      961 ilneeyetkf knqekkmekv kqkakemqet lkkklldqea klkkelenta lelsqkekqf
     1021 nakmlemaqa nsagisdavs rletnqkeqi esltevhrre lndvisiwek klnqqaeelq
     1081 eiheiqlqek eqevaelkqk illfgcekee mnkeitwlke egvkqdttln elqeqlkqks
     1141 ahvnslaqde tklkahlekl evdlnkslke ntflqeqlve lkmlaeedkr kvseltsklk
     1201 ttdeefqslk ssheksnksl edkslefkkl seelaiqldi cckktealle aktnelinis
     1261 ssktnailsr ishcqhrttk vkealliktc tvseleaqlr qlteeqntln isfqqathql
     1321 eekenqiksm kadieslvte kealqkeggn qqqaasekes citqlkkels eninavtlmk
     1381 eelkekkvei sslskqltdl nvqlqnsisl sekeaaissl rkqydeekce lldqvqdlsf
     1441 kvdtlskeki saleqvddws nkfsewkkka qsrftqhqnt vkelqiqlel kskeayekde
     1501 qinllkeeld qqnkrfdclk gemeddkskm ekkesnlete lksqtarime ledhitqkti
     1561 eieslnevlk nynqqkdieh kelvqklqhf qelgeekdnr vkeaeekilt lenqvysmka
     1621 eletkkkele hvnlsvkske eelkaledrl esesaaklae lkrkaeqkia aikkqllsqm
     1681 eekeeqykkg teshlselnt klqererevh ileeklksve ssqsetlivp rsaknvaayt
     1741 eqeeadsqgc vqktyeekis vlqrnlteke kllqrvgqek eetvsshfem rcqyqerlik
     1801 lehaeakqhe dqsmighlqe eleeknkkys livaqhveke ggknniqakq nlenvfddvq
     1861 ktlqekeltc qileqkikel dsclvrqkev hrvemeelts kyeklqalqq mdgrnkptel
     1921 leenteeksk shlvqpklls nmeaqhndle fklagaerek qklgkeivrl qkdlrmlrke
     1981 hqqeleilkk eydqereeki kqeqedlelk hnstlkqlmr efntqlaqke qelemtiket
     2041 inkaqeveae lleshqeetn qllkkiaekd ddlkrtakry eeildareee mtakvrdlqt
     2101 qleelqkkyq qkleqeenpg ndnvtimelq tqlaqkttli sdsklkeqef reqihnledr
     2161 lkkyeknvya ttvgtpykgg nlyhtdvslf geptefeylr kvlfeymmgr etktmakvit
     2221 tvlkfpddqt qkileredar lmftsprsgi f
//
LOCUS       XP_054204637             224 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclease EXOG, mitochondrial isoform X3 [Homo sapiens].
ACCESSION   XP_054204637
VERSION     XP_054204637.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348662.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..224
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..224
                     /product="nuclease EXOG, mitochondrial isoform X3"
                     /calculated_mol_wt=24689
     CDS             1..224
                     /gene="EXOG"
                     /gene_synonym="ENDOGL1; ENDOGL2; ENGL; ENGL-a; ENGL-b;
                     ENGLA; ENGLB"
                     /coded_by="XM_054348662.1:29..703"
                     /db_xref="GeneID:9941"
                     /db_xref="HGNC:HGNC:3347"
                     /db_xref="MIM:604051"
ORIGIN      
        1 maiksiasrl rgsrrflsgf vagavvgaag aglaalqffr sqgaegaltg kqpdgsaeka
       61 vleqfgfplt gtearcytnh alsydqakrv prwvlehisk skimgdadrk hckfkpdpni
      121 pptfsafned yvgsgwsrgh mapagnnkfs skamaetfyl snivpqdfdn nsgywnriem
      181 ycrelterfe dvwvvsgplt lpqtrgdgkk ivsyqsweyp slqf
//
LOCUS       XP_054205951             471 aa            linear   PRI 20-MAR-2023
DEFINITION  putative tripartite motif-containing protein 61 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054205951
VERSION     XP_054205951.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349976.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..471
                     /product="putative tripartite motif-containing protein 61
                     isoform X1"
                     /calculated_mol_wt=55320
     CDS             1..471
                     /gene="TRIM61"
                     /gene_synonym="RNF35"
                     /coded_by="XM_054349976.1:620..2035"
                     /db_xref="GeneID:391712"
                     /db_xref="HGNC:HGNC:24339"
                     /db_xref="MIM:619417"
ORIGIN      
        1 mefvtaladl raeascpicl dylkdpvtis cghnfclsci imswkdlhds fpcpfchfcc
       61 perkfisnpq lgslteiakq lqirskkrkr qeekhvckkh nqvltffcqk dlellcprcs
      121 lstdhqhhcv wpikkaasyh rkkleeynap wkerveliek vitmqtrksl elkkkvkhra
      181 eevksefeql rlflqneqet vlrqlqdeem dilaqlnesl tkfsdytssl kyllkeiesi
      241 yvkselella nvkdiyhrye nlkfpelflf klkkygyhlp pqysgldkii krfqvdvild
      301 petahrkliv sedrktvryg nttqnvphnp rrfyllpavl gskgyscgrq ywevevkdkp
      361 ewilgvcndc lprrrksqpi lvqdglwgiw rssqnnyivl ghreiillpq vipskigifl
      421 dyemnevsfy nlndrsllyt fndnftgalw pyfytgtdsk plkistvtds e
//
LOCUS       XP_054207990             225 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase 32A isoform X5 [Homo sapiens].
ACCESSION   XP_054207990
VERSION     XP_054207990.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352015.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..225
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..225
                     /product="serine/threonine-protein kinase 32A isoform X5"
                     /calculated_mol_wt=26116
     CDS             1..225
                     /gene="STK32A"
                     /gene_synonym="YANK1"
                     /coded_by="XM_054352015.1:271..948"
                     /db_xref="GeneID:202374"
                     /db_xref="HGNC:HGNC:28317"
ORIGIN      
        1 mgantsrkpp vfdenedvnf dhfeilraig kgsfgkvciv qkndtkkmya mkymnkqkcv
       61 ernevrnvfk elqimqgleh pflvnlwysf qdeedmfmvv dlllggdlry hlqqnvhfke
      121 etvklficel vmaldylqnq riihrdmkpd nilldehghv hitdfniaam lpretqittm
      181 agtkpymape mfssrkgagy sfavdwwslg vtayellrgr vaqkq
//
LOCUS       XP_054208800             216 aa            linear   PRI 20-MAR-2023
DEFINITION  geranylgeranyl transferase type-1 subunit beta isoform X3 [Homo
            sapiens].
ACCESSION   XP_054208800
VERSION     XP_054208800.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352825.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..216
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..216
                     /product="geranylgeranyl transferase type-1 subunit beta
                     isoform X3"
                     /calculated_mol_wt=24163
     CDS             1..216
                     /gene="PGGT1B"
                     /gene_synonym="BGGI; GGTI"
                     /coded_by="XM_054352825.1:27..677"
                     /db_xref="GeneID:5229"
                     /db_xref="HGNC:HGNC:8895"
                     /db_xref="MIM:602031"
ORIGIN      
        1 maatederla gsgegerldf lrdrhvrffq rclqvlpery ssletsrlti affalsgldm
       61 ldsldvvnkd diiewiyslq vlptedrsnl nrcgfrgssy lgipfnpska pgtahpydsg
      121 hiamtytgls clvilgddls rvnkeaclag lralqledgs fcavpegsen dmrfvycasc
      181 icymlnnwsg mdmkkaityi rrsmedqlfv alphyv
//
LOCUS       XP_054209241             422 aa            linear   PRI 20-MAR-2023
DEFINITION  bromodomain-containing protein 9 isoform X10 [Homo sapiens].
ACCESSION   XP_054209241
VERSION     XP_054209241.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353266.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..422
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..422
                     /product="bromodomain-containing protein 9 isoform X10"
                     /calculated_mol_wt=46286
     CDS             1..422
                     /gene="BRD9"
                     /gene_synonym="LAVS3040; PRO9856; SMARCI2"
                     /coded_by="XM_054353266.1:544..1812"
                     /db_xref="GeneID:65980"
                     /db_xref="HGNC:HGNC:25818"
                     /db_xref="MIM:618465"
ORIGIN      
        1 miikhpmdfg tmkdkivane yksvtefkad fklmcdnamt ynrpdtvyyk lakkilhagf
       61 kmmskaallg nedtaveepv pevvpvqvet akkskkpsre viscmfepeg nacsltdsta
      121 eehvlalveh aadeardrin rflpggkmgy lkrngdgsll ysvvntaepd adeeethpvd
      181 lsslsskllp gfttlgfkde rrnkvtflss attalsmqnn svfgdlksde mellysaygd
      241 etgvqcalsl qefvkdagsy skkvvddlld qitggdhsrt lfqlkqrrnv pmkppdeakv
      301 gdtlgdssss vlefmsmksy pdvsvdisml sslgkvkkel dpddshlnld ettkllqdlh
      361 eaqaerggsr pssnlsslsn aserdqhhlg spsrlsvgeq pdvthdpyef lqspepaasa
      421 kt
//
LOCUS       XP_054211041             467 aa            linear   PRI 20-MAR-2023
DEFINITION  sex comb on midleg-like protein 4 isoform X1 [Homo sapiens].
ACCESSION   XP_054211041
VERSION     XP_054211041.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355066.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..467
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..467
                     /product="sex comb on midleg-like protein 4 isoform X1"
                     /calculated_mol_wt=50834
     CDS             1..467
                     /gene="SCML4"
                     /gene_synonym="dJ47M23.1"
                     /coded_by="XM_054355066.1:502..1905"
                     /db_xref="GeneID:256380"
                     /db_xref="HGNC:HGNC:21397"
ORIGIN      
        1 mqsqripgrk rgrpslhstp mkmavhnlys asagslpavk ipkkrgrkpg ykkpkattkt
       61 nalpensldr lrqaenppip lerdqvsgsh dslspltsae yprarpqlhp sgrshgpqlg
      121 gptgshrfpk dpirpqsdpl psnpvrvavc lyinkqanag pylerkkvqq lpehfgpeqp
      181 savlqqavqa cidcahqqkl vfslvkqgyg gemvsvsasf dgkqhlrslp vvnsigyvlr
      241 flaklcrsll cddlfshqpf prgcsasekv qekeegrmes vktvtteeyl vnpvgmnrys
      301 vdtsastfnh rgslhpsssl yckrqnsgds hlgggpaata ggprtspmss ggpsapglrp
      361 passpkrntt slegnrcass psqdaqdarr prsrnpsawt vedvvwfvkd adpqalgphv
      421 elfrkheidg nallllksdm vmkylglklg palklcyhid klkqakf
//
LOCUS       XP_054211824             924 aa            linear   PRI 20-MAR-2023
DEFINITION  exocyst complex component 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054211824
VERSION     XP_054211824.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355849.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..924
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..924
                     /product="exocyst complex component 2 isoform X1"
                     /calculated_mol_wt=103936
     CDS             1..924
                     /gene="EXOC2"
                     /gene_synonym="NEDFACH; SEC5; SEC5L1; Sec5p"
                     /coded_by="XM_054355849.1:239..3013"
                     /db_xref="GeneID:55770"
                     /db_xref="HGNC:HGNC:24968"
                     /db_xref="MIM:615329"
ORIGIN      
        1 msrsrqpplv tgispnegip wtkvtirgen lgtgptdlig lticghncll taewmsaski
       61 vcrvgqaknd kgdiivttks ggrgtstvsf kllkpekigi ldqsavwvde mnyydmrtdr
      121 nkgipplslr panplgieie kskfsqkdle mlfhgmsadf tsenfsaawy lienhsntsf
      181 eqlkmavtnl krqankkseg slayvkggls tffeaqdals aihqkleadg tekvegsmtq
      241 klenvlnras ntadtlfqev lgrkdkadst rnalnvlqrf kflfnlplni erniqkgdyd
      301 vvindyekak slfgktevqv fkkyyaevet riealrelll dklletpstl hdqkryiryl
      361 sdlhasgdpa wqcigaqhkw ilqlmhscke gyvkdlkgnp glhspmldld ndtrpsvlgh
      421 lsqtaslkrg ssfqsgrddt wryktphrva fvekltklvl sqlpnfwklw isyvngslfs
      481 etaeksgqie rsknvrqrqn dfkkmiqevm hslvkltrga llplsirdge akqyggwevk
      541 celsgqwlah aiqtvrlthe sltaleipnd llqtiqdlil dlrvrcvmat lqhtaeeikr
      601 laekedwivd negltslpcq feqcivcslq slkgvleckp geasvfqqpk tqeevcqlsi
      661 nimqvfiycl eqlstkpdad idtthlsvdv sspdlfgsih edfsltseqr llivlsnccy
      721 lerhtflnia ehfekhnfqg iekitqvsma slkeldqrlf enyielkadp ivgslepgiy
      781 agyfdwkdcl pptgvrnylk ealvniiavh aevftiskel vprvlskvie avseelsrlm
      841 qcvssfskng alqarleica lrdtvavylt peskssfkqa lealpqlssg adkklleell
      901 nkfkssmhlq ltcfqaasst mmkt
//
LOCUS       XP_054213726             285 aa            linear   PRI 20-MAR-2023
DEFINITION  STEAP family member 1B isoform X3 [Homo sapiens].
ACCESSION   XP_054213726
VERSION     XP_054213726.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357751.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..285
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..285
                     /product="STEAP family member 1B isoform X3"
                     /calculated_mol_wt=33338
     CDS             1..285
                     /gene="STEAP1B"
                     /coded_by="XM_054357751.1:107..964"
                     /db_xref="GeneID:256227"
                     /db_xref="HGNC:HGNC:41907"
ORIGIN      
        1 mesrkditnq eeiwkmkprr nledndylhk dtgetsmlkr pvllhlqqta hadefdcpse
       61 lqhaqelfpq whlpikiaav masltflytl lrevihplat shqqyfykip ilvinkvlpm
      121 vsitllalvy lpgviaaivq vhngtkykkf phwldkwmlt rkqfgllslf favlhaiytl
      181 syamrrsyry kllnwayqqv qqnkedawie hdvwrmeiyv slgivglail allavtsips
      241 vsdsltwref hyiqgwcelq flllakhlkk isvflvhgri nfltl
//
LOCUS       XP_054213835             523 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box only protein 24 isoform X3 [Homo sapiens].
ACCESSION   XP_054213835
VERSION     XP_054213835.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357860.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..523
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..523
                     /product="F-box only protein 24 isoform X3"
                     /calculated_mol_wt=58668
     CDS             1..523
                     /gene="FBXO24"
                     /gene_synonym="FBX24"
                     /coded_by="XM_054357860.1:299..1870"
                     /db_xref="GeneID:26261"
                     /db_xref="HGNC:HGNC:13595"
                     /db_xref="MIM:609097"
ORIGIN      
        1 mgekavpllr rrrvkrscps cgselgveek rgkgnpisiq lfppelvehi isflpvrdlv
       61 algqtcryfh evcdgegvwr ricrrlsprl qdqgsgvrpw kraailnytk glyfqafggr
      121 rrclsksvap llahgyrrfl ptkdhvfild yvgtlfflkn alvstlgqmq wkracryvvl
      181 crgakdfasd prcdtvyrky lyvlatrepq evvgttssra cdcvevylqs sgqrvfkmtf
      241 hhsmtfkqiv lvgqetqral lllteegkiy slvvnetqld qprsytvqla lrkvshylph
      301 lrvacmtsnq sstlyvtdqg gvyfevhtpg vyrdlfgtlq afdpldqqmp lalslpakil
      361 fcalgynhlg lvdefgrifm qgnnrygqlg tgdkmdrgep tqvplcacal catreclyil
      421 sshdieqhap yrhlpasrvv gtpepslgar apqdpggmaq aceeylsqih scqtlqdrte
      481 kmkeivgwmp lmaaqkdffw ealdmlqrae gggggvgppa pet
//
LOCUS       XP_054217139            1578 aa            linear   PRI 20-MAR-2023
DEFINITION  maestro heat-like repeat-containing protein family member 1 isoform
            X7 [Homo sapiens].
ACCESSION   XP_054217139
VERSION     XP_054217139.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361164.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1578
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1578
                     /product="maestro heat-like repeat-containing protein
                     family member 1 isoform X7"
                     /calculated_mol_wt=174282
     CDS             1..1578
                     /gene="MROH1"
                     /gene_synonym="HEATR7A"
                     /coded_by="XM_054361164.1:118..4854"
                     /db_xref="GeneID:727957"
                     /db_xref="HGNC:HGNC:26958"
ORIGIN      
        1 mtessmkkla stlldaitdk dplvqeqvcs alcslgevrp vetlraceey lrqhdklahp
       61 yraavlrame rvlssrasel dkdtastiil lassemtktk dlvwdwqqaa sgvlvavgrq
      121 fiskvmeell rrlhpgtlph cavlhtlasl svanafgvvp flpsvlssll pvlgvakqdt
      181 vrvafcsalq rfsegaleyl anldrapdpt vrkdafatdi fsaydvlfhq wlqsreaklr
      241 lavvealgpm shllpserle eqlpkllpgi lalykkhaet fylskslgqi leaavsvgsr
      301 tletqldall aalhsqicvp vesssplvms nqkevlrcft vlacsspdrl lafllprldt
      361 snertrvgtl qvvrhvinsa aaqmedkkpf ilssmrlpll dtnskvkrav vqvisamahh
      421 gyleqpggea mieyivqqca lppeqepekp gpgskdpkad svraisvrtl ylvsttvdrm
      481 shvlwpyllq fltpvrftga ltplcrslvh laqkrqeaga dafliqydah aslpspyavt
      541 grllvvsssp ylgdgrgaaa lrllsvlhpn ihpllgqhwe ttvplllgyl dehteetlpq
      601 eeweekllmf lrdtlaiisd nawicqlsle lcrqlpcyde apqeknflyk cigttlgaas
      661 skevvrkhlq elletaryqe eaereglacc fgicaishle dtlaqledfv rsevfrksig
      721 ilnifkdrse nevekvksal ilcyghvaar aprelvlakv esdilrnicq hfstkvlgik
      781 vetkdpalkl clvqsvcmvs raicsstqag sfhftrkael vaqmmefira eppdslrtpi
      841 rkkamltcty lvsvepalde qaradvihgc lhsimallpe pkeedggcqk slyletlhal
      901 edlltsllqr nmtpqglqim iehlspwiks prgheraral glsalllryf lehlrvsalv
      961 pfhnlgllig lfsprcadlw patrqeavdc vysllylqlg yegfsrdyrd dvaerllslk
     1021 dglvhpdpai lfhtchsvgq iiakrlppdq lisllltmfe algdpekncs raatvmincl
     1081 lqerggvlqe kvpeivsvlr sklqeaqgeh vlpaaqhsvy llatqhcaav vssllgsplp
     1141 ldshtcmlwr alaveprlaa qvlglllekm srdvpfkesr afllgrtpdr vatllplsat
     1201 calfevmstp aagpavlely pqlfvvlllr vsctvgvqlp rnlqaqerrg aspalatrnl
     1261 epcssavdtl rsmllrsgse dvvqrmdleg gwellrtsag heegatrlar amaehagprl
     1321 plvlktlact hssayenqrv tttaflaell nsnvandlml ldslleslaa rqkdtcasvr
     1381 rlvlrglanl asgcpdkekm efrtasirlf ghlnkvchgd cedvfldqvv gglaplllhl
     1441 qdpqatvasa crfalrmcgp nlaceelsaa fqkhlqegra lhfgeflntt ckhlmhhfpd
     1501 llgrllttcl fyfksswenv raaaplftgf lvlhseprqq pqvdldqlia alqillkdpa
     1561 pevrtraaea lgrlvkla
//
LOCUS       XP_054219722             896 aa            linear   PRI 20-MAR-2023
DEFINITION  guanine nucleotide exchange factor VAV2 isoform X2 [Homo sapiens].
ACCESSION   XP_054219722
VERSION     XP_054219722.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363747.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..896
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..896
                     /product="guanine nucleotide exchange factor VAV2 isoform
                     X2"
                     /calculated_mol_wt=102944
     CDS             1..896
                     /gene="VAV2"
                     /gene_synonym="VAV-2"
                     /coded_by="XM_054363747.1:47..2737"
                     /db_xref="GeneID:7410"
                     /db_xref="HGNC:HGNC:12658"
                     /db_xref="MIM:600428"
ORIGIN      
        1 meqwrqcgrw lidckvlppn hrvvwpsavv fdlaqalrdg vllcqllhnl spgsidlkdi
       61 nfrpqmsqfl clknirtflk vchdkfglrn selfdpfdlf dvrdfgkvis avsrlslhsi
      121 aqnkgirpfp seettenddd vyrsleelad ehdlgediyd cvpcedggdd iyediikvev
      181 qqpmirymqk mgmteddkrn cclleiqete akyyrtledi eknymsplrl vlspadmaav
      241 finledlikv hhsflraidv svmvggstla kvfldfkerl liygeycshm ehaqntlnql
      301 lasredfrqk veectlkvqd gkfklqdllv vpmqrvlkyh lllkellshs aerperqqlk
      361 ealeamqdla myinevkrdk etlrkisefq ssienlqvkl eefgrpkidg elkvrsivnh
      421 tkqdrylflf dkvvivckrk gysyelkeii ellfhkmtdd pmnnkdvkkq agfplpshpa
      481 vlggglwshg kmwsygfyli hlqgkqgfqf fcktedmkrk wmeqfemams nikpdkanan
      541 hhsfqmytfd kttnckackm flrgtfyqgy mctkcgvgah keclevippc kftspadlda
      601 sgagpgpkmv amqnyhgnpa ppgkpvltfq tgdvlellrg dpespwwegr lvqtrksgyf
      661 psssvkpcpv dgrppisrpp sreidytayp wfagnmerqq tdnllkshas gtylirerpa
      721 eaerfaisik fndevkhikv vekdnwihit eakkfdslle lveyyqchsl kesfkqldtt
      781 lkypyksrer sasrassrsp ascasynfsf lspqglsfas qgpsapfwsv ftprvigtav
      841 arynfaardm relslregdv vriysriggd qgwwkgetng rigwfpstyv eeegiq
//
LOCUS       XP_054183824             598 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 185 isoform X39 [Homo sapiens].
ACCESSION   XP_054183824
VERSION     XP_054183824.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327849.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..598
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..598
                     /product="zinc finger protein 185 isoform X39"
                     /calculated_mol_wt=64096
     CDS             1..598
                     /gene="ZNF185"
                     /gene_synonym="SCELL"
                     /coded_by="XM_054327849.1:232..2028"
                     /db_xref="GeneID:7739"
                     /db_xref="HGNC:HGNC:12976"
                     /db_xref="MIM:300381"
ORIGIN      
        1 msisalggrt kgkplppgee ernnvlkqmk vrttlkgdks witkqdeseg rtielpsgrs
       61 ratsfssage vpkprppstr aptgyiirgv ftkpidsssq pqqqfpkang tpksaaslvr
      121 tanagpprps ssgykmtted ykklapynir rsstsgdtee eeeeevvpfs sdeqkrrsea
      181 asgvlrrtap rehsyvlsaa kkstgsptqe tqapfiakrv evveedgpse ksqdppalar
      241 stpgsnrssp gnkdkeapcs relqrdlage eafrapntda asssatsvsa vpadrksnst
      301 aaqedakadp kgaladyegk dvatrvgeaw qerpgaprgg qgdpavpaqq padpstperq
      361 sspsgseqlv rrescgssvl tdfegkdvat kvgeawqdrp gaprggqgdp avptqqpadp
      421 stpeqqnsps gseqfvrres ctsrvrspss cmvtvtvtat seqphiyipa paseldssst
      481 tkgilfvkey vnasevssgk pvsarysnvs siedsfamek kppcgstpys erttggicty
      541 cnreirdcpk itlehlgicc heycfkcgic skpmgdlldq ifihrdtihc gkcyeklf
//
LOCUS       XP_047303233             294 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-specific Y-encoded protein 3-like isoform X2 [Homo sapiens].
ACCESSION   XP_047303233
VERSION     XP_047303233.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047447277.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060948) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..294
                     /organism="Homo sapiens"
                     /isolate="NA24385"
                     /bio_material="CORIELL:NA24385"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /sex="male"
                     /tissue_type="B-Lymphocyte"
     Protein         1..294
                     /product="testis-specific Y-encoded protein 3-like isoform
                     X2"
                     /calculated_mol_wt=33117
     Region          103..>273
                     /region_name="NAP"
                     /note="Nucleosome assembly protein (NAP); cl08298"
                     /db_xref="CDD:447601"
     CDS             1..294
                     /gene="LOC124909318"
                     /coded_by="XM_047447277.1:15..899"
                     /db_xref="GeneID:124909318"
ORIGIN      
        1 mrpegsltyr vperlrqgfc gvgraaqalv casakegtaf rmeavqegaa gveseqaalg
       61 eeavlllddi maevevvaee eglverreea qraqqavpgp gpmtpesale ellavqvele
      121 pvnaqarkaf srqrekmerr rkpqldrrga viqsvpgfwa nvianhpqms alitdededm
      181 lsymvsleve eekhpvhlck imlffrsnpy fqnkvitkey lvniteyras hstpiewypd
      241 yeveayrrrh hnsslnffnw fsdhnfagsn kiaespdrsy vrtcgaipcn ttrg
//
LOCUS       NP_001357270             215 aa            linear   PRI 22-MAR-2023
DEFINITION  high mobility group protein B1 isoform 1 [Homo sapiens].
ACCESSION   NP_001357270 XP_024305110
VERSION     NP_001357270.1
DBSOURCE    REFSEQ: accession NM_001370341.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 215)
  AUTHORS   Deng X, Niu Z, Hao C, Lin J and Yao W.
  TITLE     HMGB1 coordinates with Brahma-related gene 1 to promote
            epithelial-mesenchymal transition via the PI3K/Akt/mTOR pathway in
            BEAS-2B cells
  JOURNAL   Exp Cell Res 424 (2), 113522 (2023)
   PUBMED   36796747
  REMARK    GeneRIF: HMGB1 coordinates with Brahma-related gene 1 to promote
            epithelial-mesenchymal transition via the PI3K/Akt/mTOR pathway in
            BEAS-2B cells.
REFERENCE   2  (residues 1 to 215)
  AUTHORS   Zhao Z, Li G, Wang Y, Li Y, Xu H, Liu W, Hao W, Yao Y and Zeng R.
  TITLE     Cytoplasmic HMGB1 induces renal tubular ferroptosis after
            ischemia/reperfusion
  JOURNAL   Int Immunopharmacol 116, 109757 (2023)
   PUBMED   36731154
  REMARK    GeneRIF: Cytoplasmic HMGB1 induces renal tubular ferroptosis after
            ischemia/reperfusion.
REFERENCE   3  (residues 1 to 215)
  AUTHORS   Mensah MA, Niskanen H, Magalhaes AP, Basu S, Kircher M, Sczakiel
            HL, Reiter AMV, Elsner J, Meinecke P, Biskup S, Chung BHY,
            Dombrowsky G, Eckmann-Scholz C, Hitz MP, Hoischen A, Holterhus PM,
            Hulsemann W, Kahrizi K, Kalscheuer VM, Kan A, Krumbiegel M, Kurth
            I, Leubner J, Longardt AC, Moritz JD, Najmabadi H, Skipalova K,
            Snijders Blok L, Tzschach A, Wiedersberg E, Zenker M, Garcia-Cabau
            C, Buschow R, Salvatella X, Kraushar ML, Mundlos S, Caliebe A,
            Spielmann M, Horn D and Hnisz D.
  TITLE     Aberrant phase separation and nucleolar dysfunction in rare genetic
            diseases
  JOURNAL   Nature 614 (7948), 564-571 (2023)
   PUBMED   36755093
  REMARK    GeneRIF: Aberrant phase separation and nucleolar dysfunction in
            rare genetic diseases.
REFERENCE   4  (residues 1 to 215)
  AUTHORS   Zhou Y, Liu X, Zhang W, Xu Y, Zhang Q, Xiong S, Tang H and Luo B.
  TITLE     HMGB1 released from dead tumor cells after insufficient
            radiofrequency ablation promotes progression of HCC residual tumor
            via ERK1/2 pathway
  JOURNAL   Int J Hyperthermia 40 (1), 2174709 (2023)
   PUBMED   36755436
  REMARK    GeneRIF: HMGB1 released from dead tumor cells after insufficient
            radiofrequency ablation promotes progression of HCC residual tumor
            via ERK1/2 pathway.
REFERENCE   5  (residues 1 to 215)
  AUTHORS   Ferrari S, Finelli P, Rocchi M and Bianchi ME.
  TITLE     The active gene that encodes human high mobility group 1 protein
            (HMG1) contains introns and maps to chromosome 13
  JOURNAL   Genomics 35 (2), 367-371 (1996)
   PUBMED   8661151
REFERENCE   6  (residues 1 to 215)
  AUTHORS   Ge H and Roeder RG.
  TITLE     The high mobility group protein HMG1 can reversibly inhibit class
            II gene transcription by interaction with the TATA-binding protein
  JOURNAL   J Biol Chem 269 (25), 17136-17140 (1994)
   PUBMED   8006019
REFERENCE   7  (residues 1 to 215)
  AUTHORS   Paull TT, Haykinson MJ and Johnson RC.
  TITLE     The nonspecific DNA-binding and -bending proteins HMG1 and HMG2
            promote the assembly of complex nucleoprotein structures
  JOURNAL   Genes Dev 7 (8), 1521-1534 (1993)
   PUBMED   8339930
REFERENCE   8  (residues 1 to 215)
  AUTHORS   Parkkinen J and Rauvala H.
  TITLE     Interactions of plasminogen and tissue plasminogen activator (t-PA)
            with amphoterin. Enhancement of t-PA-catalyzed plasminogen
            activation by amphoterin
  JOURNAL   J Biol Chem 266 (25), 16730-16735 (1991)
   PUBMED   1909331
REFERENCE   9  (residues 1 to 215)
  AUTHORS   Wen L, Huang JK, Johnson BH and Reeck GR.
  TITLE     A human placental cDNA clone that encodes nonhistone chromosomal
            protein HMG-1
  JOURNAL   Nucleic Acids Res 17 (3), 1197-1214 (1989)
   PUBMED   2922262
REFERENCE   10 (residues 1 to 215)
  AUTHORS   Bernues,J., Espel,E. and Querol,E.
  TITLE     Identification of the core-histone-binding domains of HMG1 and HMG2
  JOURNAL   Biochim Biophys Acta 866 (4), 242-251 (1986)
   PUBMED   3697355
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL353648.27.
            On May 7, 2019 this sequence version replaced XP_024305110.1.
            
            Summary: This gene encodes a protein that belongs to the High
            Mobility Group-box superfamily. The encoded non-histone, nuclear
            DNA-binding protein regulates transcription, and is involved in
            organization of DNA. This protein plays a role in several cellular
            processes, including inflammation, cell differentiation and tumor
            cell migration. Multiple pseudogenes of this gene have been
            identified. Alternative splicing results in multiple transcript
            variants that encode the same protein. [provided by RefSeq, Sep
            2015].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.173879.1,
                                           SRR1803612.431532.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146411, SAMEA2155974
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..215
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.3"
     Protein         1..215
                     /product="high mobility group protein B1 isoform 1"
                     /note="Sulfoglucuronyl carbohydrate binding protein;
                     Amphoterin; high-mobility group (nonhistone chromosomal)
                     protein 1; high mobility group protein B1"
                     /calculated_mol_wt=24763
     Region          1..97
                     /region_name="Sufficient for interaction with HAVCR2.
                     /evidence=ECO:0000250|UniProtKB:P63158"
                     /note="propagated from UniProtKB/Swiss-Prot (P09429.3)"
     Region          3..15
                     /region_name="LPS binding (delipidated).
                     /evidence=ECO:0000269|PubMed:21660935"
                     /note="propagated from UniProtKB/Swiss-Prot (P09429.3)"
     Site            3
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            7
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Region          8..76
                     /region_name="HMG-box_HMGB_rpt1"
                     /note="first high mobility group (HMG)-box found in the
                     high mobility group protein B (HMGB) family; cd21978"
                     /db_xref="CDD:438794"
     Site            order(8..10,13,16..17,19..21,25,28,35..36,38..39,41..43,
                     45..46,50)
                     /site_type="other"
                     /note="p53 binding site [polypeptide binding]"
                     /db_xref="CDD:438794"
     Site            order(8,10..11,13..17,20..21,36,38..39,41..43,46,49)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438794"
     Site            8
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            10..11
                     /site_type="cleavage"
                     /note="Cleavage, by thrombin:thrombomodulin.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            12
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Region          27..43
                     /region_name="Nuclear localization signal (NLS) 1.
                     /evidence=ECO:0000250|UniProtKB:P63159"
                     /note="propagated from UniProtKB/Swiss-Prot (P09429.3)"
     Site            28
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            29
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            30
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            35
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            43
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P63158; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            67..68
                     /site_type="cleavage"
                     /note="Cleavage, by CASP1.
                     /evidence=ECO:0000269|PubMed:24474694; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Region          76..95
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P09429.3)"
     Region          80..96
                     /region_name="LPS binding (Lipid A).
                     /evidence=ECO:0000269|PubMed:21660935"
                     /note="propagated from UniProtKB/Swiss-Prot (P09429.3)"
     Region          89..108
                     /region_name="Cytokine-stimulating activity.
                     /evidence=ECO:0000269|PubMed:12765338"
                     /note="propagated from UniProtKB/Swiss-Prot (P09429.3)"
     Site            90
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P63158; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Region          93..163
                     /region_name="HMG-box_HMGB_rpt2"
                     /note="second high mobility group (HMG)-box found in the
                     high mobility group protein B (HMGB) family; cd21979"
                     /db_xref="CDD:438795"
     Site            order(94..100,102..104,106..107,110,122..123,125..127,130,
                     133,152,155..156,159,162..163)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438795"
     Site            100
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            127
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            128
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            141
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P63158; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Region          150..183
                     /region_name="Binding to AGER/RAGE.
                     /evidence=ECO:0000250|UniProtKB:P63159"
                     /note="propagated from UniProtKB/Swiss-Prot (P09429.3)"
     Region          161..215
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P09429.3)"
     Site            172
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            173
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            177
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Region          178..184
                     /region_name="Nuclear localization signal (NLS) 2.
                     /evidence=ECO:0000250|UniProtKB:P63159"
                     /note="propagated from UniProtKB/Swiss-Prot (P09429.3)"
     Site            180
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            182
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            183
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            184
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     Site            185
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10103; propagated from
                     UniProtKB/Swiss-Prot (P09429.3)"
     CDS             1..215
                     /gene="HMGB1"
                     /gene_synonym="HMG-1; HMG1; HMG3; SBP-1"
                     /coded_by="NM_001370341.1:183..830"
                     /note="isoform 1 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS9335.1"
                     /db_xref="GeneID:3146"
                     /db_xref="HGNC:HGNC:4983"
                     /db_xref="MIM:163905"
ORIGIN      
        1 mgkgdpkkpr gkmssyaffv qtcreehkkk hpdasvnfse fskkcserwk tmsakekgkf
       61 edmakadkar yeremktyip pkgetkkkfk dpnapkrpps afflfcseyr pkikgehpgl
      121 sigdvakklg emwnntaadd kqpyekkaak lkekyekdia ayrakgkpda akkgvvkaek
      181 skkkkeeeed eedeedeeee edeededeee dddde
//
LOCUS       NP_001743                527 aa            linear   PRI 23-MAR-2023
DEFINITION  catalase [Homo sapiens].
ACCESSION   NP_001743
VERSION     NP_001743.1
DBSOURCE    REFSEQ: accession NM_001752.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 527)
  AUTHORS   Maciel LA, Leite PLA, Santos PA, Barbosa LP, Gutierrez SD, Deus LA,
            Araujo MC, Aguiar SDS, Rosa TS, Lewis JE and Simoes HG.
  TITLE     Intensity of Depression Symptoms Is Negatively Associated with
            Catalase Activity in Master Athletes
  JOURNAL   Int J Environ Res Public Health 20 (5), 4397 (2023)
   PUBMED   36901407
  REMARK    GeneRIF: Intensity of Depression Symptoms Is Negatively Associated
            with Catalase Activity in Master Athletes.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 527)
  AUTHORS   Yang H, Zhang J, Yang M, Xu L, Chen W, Sun Y and Zhang X.
  TITLE     Catalase and interleukin-6 serum elevation in a prediction of
            treatment-resistance in male schizophrenia patients
  JOURNAL   Asian J Psychiatr 79, 103400 (2023)
   PUBMED   36521406
  REMARK    GeneRIF: Catalase and interleukin-6 serum elevation in a prediction
            of treatment-resistance in male schizophrenia patients.
REFERENCE   3  (residues 1 to 527)
  AUTHORS   Iborra M, Moret I, Buso E, Garcia-Gimenez JL, Ricart E, Gisbert JP,
            Cabre E, Esteve M, Marquez-Mosquera L, Garcia-Planella E, Guardiola
            J, Pallardo FV, Serena C, Algaba-Chueca F, Domenech E, Nos P and
            Beltran B.
  TITLE     The Genetic Diversity and Dysfunctionality of Catalase Associated
            with a Worse Outcome in Crohn's Disease
  JOURNAL   Int J Mol Sci 23 (24), 15881 (2022)
   PUBMED   36555526
  REMARK    GeneRIF: The Genetic Diversity and Dysfunctionality of Catalase
            Associated with a Worse Outcome in Crohn's Disease.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 527)
  AUTHORS   Kolpakov IY, Vdovenko VY, Zyhalo VM, Kondrashova VH and Leonovych
            OS.
  TITLE     CATALASE CRS-262T GENE POLYMORPHISM AND CHANGES IN VENTILATION LUNG
            CAPACITY IN CHILDREN-RESIDENTS OF RADIOACTIVELY CONTAMINATED
            TERRITORIES
  JOURNAL   Probl Radiac Med Radiobiol 27, 341-352 (2022)
   PUBMED   36582099
  REMARK    GeneRIF: CATALASE CRS-262T GENE POLYMORPHISM AND CHANGES IN
            VENTILATION LUNG CAPACITY IN CHILDREN-RESIDENTS OF RADIOACTIVELY
            CONTAMINATED TERRITORIES.
REFERENCE   5  (residues 1 to 527)
  AUTHORS   Galasso M, Dalla Pozza E, Chignola R, Gambino S, Cavallini C,
            Quaglia FM, Lovato O, Dando I, Malpeli G, Krampera M, Donadelli M,
            Romanelli MG and Scupoli MT.
  TITLE     The rs1001179 SNP and CpG methylation regulate catalase expression
            in chronic lymphocytic leukemia
  JOURNAL   Cell Mol Life Sci 79 (10), 521 (2022)
   PUBMED   36112236
  REMARK    GeneRIF: The rs1001179 SNP and CpG methylation regulate catalase
            expression in chronic lymphocytic leukemia.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 527)
  AUTHORS   Kishimoto Y, Murakami Y, Hayashi K, Takahara S, Sugimura T and
            Sekiya T.
  TITLE     Detection of a common mutation of the catalase gene in Japanese
            acatalasemic patients
  JOURNAL   Hum Genet 88 (5), 487-490 (1992)
   PUBMED   1551654
REFERENCE   7  (residues 1 to 527)
  AUTHORS   Shaffer JB and Preston KE.
  TITLE     Molecular analysis of an acatalasemic mouse mutant
  JOURNAL   Biochem Biophys Res Commun 173 (3), 1043-1050 (1990)
   PUBMED   2268310
REFERENCE   8  (residues 1 to 527)
  AUTHORS   Wen JK, Osumi T, Hashimoto T and Ogata M.
  TITLE     Molecular analysis of human acatalasemia. Identification of a
            splicing mutation
  JOURNAL   J Mol Biol 211 (2), 383-393 (1990)
   PUBMED   2308162
REFERENCE   9  (residues 1 to 527)
  AUTHORS   Litwin JA, Volkl A, Muller-Hocker J and Fahimi HD.
  TITLE     Immunocytochemical demonstration of peroxisomal enzymes in human
            kidney biopsies
  JOURNAL   Virchows Arch B Cell Pathol Incl Mol Pathol 54 (4), 207-213 (1988)
   PUBMED   2895531
REFERENCE   10 (residues 1 to 527)
  AUTHORS   Kittur,S.D., Hoppener,J.W., Antonarakis,S.E., Daniels,J.D.,
            Meyers,D.A., Maestri,N.E., Jansen,M., Korneluk,R.G., Nelkin,B.D.
            and Kazazian,H.H. Jr.
  TITLE     Linkage map of the short arm of human chromosome 11: location of
            the genes for catalase, calcitonin, and insulin-like growth factor
            II
  JOURNAL   Proc Natl Acad Sci U S A 82 (15), 5064-5067 (1985)
   PUBMED   2991908
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291585.1, AL035079.14 and
            AW023382.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes catalase, a key antioxidant enzyme in
            the bodies defense against oxidative stress. Catalase is a heme
            enzyme that is present in the peroxisome of nearly all aerobic
            cells. Catalase converts the reactive oxygen species hydrogen
            peroxide to water and oxygen and thereby mitigates the toxic
            effects of hydrogen peroxide. Oxidative stress is hypothesized to
            play a role in the development of many chronic or late-onset
            diseases such as diabetes, asthma, Alzheimer's disease, systemic
            lupus erythematosus, rheumatoid arthritis, and cancers.
            Polymorphisms in this gene have been associated with decreases in
            catalase activity but, to date, acatalasemia is the only disease
            known to be caused by this gene. [provided by RefSeq, Oct 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1080032.1,
                                           SRR3476690.186343.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000241052.5/ ENSP00000241052.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..527
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     Protein         1..527
                     /product="catalase"
                     /EC_number="1.11.1.6"
                     /note="epididymis secretory sperm binding protein"
                     /calculated_mol_wt=59625
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P04040.3)"
     Site            9
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04040.3)"
     Region          68..497
                     /region_name="catalase_clade_3"
                     /note="Clade 3 of the heme-binding enzyme catalase;
                     cd08156"
                     /db_xref="CDD:163712"
     Site            order(68,73,121..122,141..142,157..161,163,166,172..177,
                     181,184,248,251,254..255,259,262..263,266,289..290,295,
                     297,323,325..326,328,331,338..339,347,349,352,355..357,
                     360..361,364..366,368..369,371..374,378,383..384,386,389,
                     391..393,403..408,468..469,471,473,477)
                     /site_type="other"
                     /note="tetramer interface [polypeptide binding]"
                     /db_xref="CDD:163712"
     Site            order(75,114,148,153,161,354,358)
                     /site_type="other"
                     /note="heme binding pocket [chemical binding]"
                     /db_xref="CDD:163712"
     Site            order(151,194,198,201,203,213,235,237,302..305,442,
                     445..446)
                     /site_type="other"
                     /note="NADPH binding site [chemical binding]"
                     /db_xref="CDD:163712"
     Site            233
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P24270; propagated from
                     UniProtKB/Swiss-Prot (P04040.3)"
     Site            306
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P24270; propagated from
                     UniProtKB/Swiss-Prot (P04040.3)"
     Site            417
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P24270; propagated from
                     UniProtKB/Swiss-Prot (P04040.3)"
     Site            422
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04040.3)"
     Site            480
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P24270; propagated from
                     UniProtKB/Swiss-Prot (P04040.3)"
     Site            499
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P24270; propagated from
                     UniProtKB/Swiss-Prot (P04040.3)"
     Site            511
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04040.3)"
     Site            515
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04040.3)"
     Site            517
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04040.3)"
     Region          524..527
                     /region_name="Microbody targeting signal, atypical.
                     /evidence=ECO:0000269|PubMed:8769411"
                     /note="propagated from UniProtKB/Swiss-Prot (P04040.3)"
     CDS             1..527
                     /gene="CAT"
                     /coded_by="NM_001752.4:81..1664"
                     /db_xref="CCDS:CCDS7891.1"
                     /db_xref="GeneID:847"
                     /db_xref="HGNC:HGNC:1516"
                     /db_xref="MIM:115500"
ORIGIN      
        1 madsrdpasd qmqhwkeqra aqkadvlttg agnpvgdkln vitvgprgpl lvqdvvftde
       61 mahfdrerip ervvhakgag afgyfevthd itkyskakvf ehigkktpia vrfstvages
      121 gsadtvrdpr gfavkfyted gnwdlvgnnt piffirdpil fpsfihsqkr npqthlkdpd
      181 mvwdfwslrp eslhqvsflf sdrgipdghr hmngygshtf klvnangeav yckfhyktdq
      241 giknlsveda arlsqedpdy girdlfnaia tgkypswtfy iqvmtfnqae tfpfnpfdlt
      301 kvwphkdypl ipvgklvlnr npvnyfaeve qiafdpsnmp pgieaspdkm lqgrlfaypd
      361 thrhrlgpny lhipvncpyr arvanyqrdg pmcmqdnqgg apnyypnsfg apeqqpsale
      421 hsiqysgevr rfntanddnv tqvrafyvnv lneeqrkrlc eniaghlkda qifiqkkavk
      481 nftevhpdyg shiqalldky naekpknaih tfvqsgshla arekanl
//
LOCUS       NP_002887                364 aa            linear   PRI 26-MAR-2023
DEFINITION  RNA-binding protein 4 isoform 1 [Homo sapiens].
ACCESSION   NP_002887 XP_498518 XP_950581 XP_950583
VERSION     NP_002887.2
DBSOURCE    REFSEQ: accession NM_002896.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 364)
  AUTHORS   Jian W, Xue W, Wang T, Yu Y, Cai L, Meng Y, Xia Z and Zhang C.
  TITLE     RBM4 inhibits the growth of clear cell renal cell carcinoma by
            enhancing the stability of p53 mRNA
  JOURNAL   Mol Carcinog 62 (4), 464-478 (2023)
   PUBMED   36585906
  REMARK    GeneRIF: RBM4 inhibits the growth of clear cell renal cell
            carcinoma by enhancing the stability of p53 mRNA.
REFERENCE   2  (residues 1 to 364)
  AUTHORS   Wang L, Zhang X, Sheng J, Chen L, Zhi L, Zheng Q, Qi Y, Wang L,
            Zhang J, Zhao J, Wang Y, Liu SX, Sun MZ and Zhang W.
  TITLE     RBM4 regulates cellular senescence via miR1244/SERPINE1 axis
  JOURNAL   Cell Death Dis 14 (1), 27 (2023)
   PUBMED   36639375
  REMARK    GeneRIF: RBM4 regulates cellular senescence via miR1244/SERPINE1
            axis.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 364)
  AUTHORS   Han H, Lin T, Wang Z, Song J, Fang Z, Zhang J, You X, Du Y, Ye J
            and Zhou G.
  TITLE     RNA-binding motif 4 promotes angiogenesis in HCC by selectively
            activating VEGF-A expression
  JOURNAL   Pharmacol Res 187, 106593 (2023)
   PUBMED   36496136
  REMARK    GeneRIF: RNA-binding motif 4 promotes angiogenesis in HCC by
            selectively activating VEGF-A expression.
REFERENCE   4  (residues 1 to 364)
  AUTHORS   Niu K, Zhang X, Song Q and Feng Q.
  TITLE     G-Quadruplex Regulation of VEGFA mRNA Translation by RBM4
  JOURNAL   Int J Mol Sci 23 (2), 743 (2022)
   PUBMED   35054929
  REMARK    GeneRIF: G-Quadruplex Regulation of VEGFA mRNA Translation by RBM4.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 364)
  AUTHORS   Foroushani AK, Chim B, Wong M, Rastegar A, Smith PT, Wang S,
            Barbian K, Martens C, Hafner M and Muljo SA.
  TITLE     Posttranscriptional regulation of human endogenous retroviruses by
            RNA-binding motif protein 4, RBM4
  JOURNAL   Proc Natl Acad Sci U S A 117 (42), 26520-26530 (2020)
   PUBMED   33020268
  REMARK    GeneRIF: Posttranscriptional regulation of human endogenous
            retroviruses by RNA-binding motif protein 4, RBM4.
REFERENCE   6  (residues 1 to 364)
  AUTHORS   Kar A, Havlioglu N, Tarn WY and Wu JY.
  TITLE     RBM4 interacts with an intronic element and stimulates tau exon 10
            inclusion
  JOURNAL   J Biol Chem 281 (34), 24479-24488 (2006)
   PUBMED   16777844
  REMARK    GeneRIF: RBM4 is expressed in the human brain regions affected in
            tauopathy, including the hippocampus and frontal cortex.  RBM4 is
            involved in tau exon 10 alternative splicing
REFERENCE   7  (residues 1 to 364)
  AUTHORS   Lin JC and Tarn WY.
  TITLE     Exon selection in alpha-tropomyosin mRNA is regulated by the
            antagonistic action of RBM4 and PTB
  JOURNAL   Mol Cell Biol 25 (22), 10111-10121 (2005)
   PUBMED   16260624
  REMARK    GeneRIF: the regulated alternative splicing of alpha-TM by the
            antagonistic splicing regulators RBM4 and PTB
REFERENCE   8  (residues 1 to 364)
  AUTHORS   Diederichs S, Baumer N, Ji P, Metzelder SK, Idos GE, Cauvet T, Wang
            W, Moller M, Pierschalski S, Gromoll J, Schrader MG, Koeffler HP,
            Berdel WE, Serve H and Muller-Tidow C.
  TITLE     Identification of interaction partners and substrates of the cyclin
            A1-CDK2 complex
  JOURNAL   J Biol Chem 279 (32), 33727-33741 (2004)
   PUBMED   15159402
REFERENCE   9  (residues 1 to 364)
  AUTHORS   Bernert G, Fountoulakis M and Lubec G.
  TITLE     Manifold decreased protein levels of matrin 3, reduced motor
            protein HMP and hlark in fetal Down's syndrome brain
  JOURNAL   Proteomics 2 (12), 1752-1757 (2002)
   PUBMED   12469345
  REMARK    GeneRIF: Data show that the nuclear matrix protein matrin 3,
            cytoskeletal motor protein HMP, and the circadian clock protein
            lark were significantly decreased in fetal Down syndrome brain.
REFERENCE   10 (residues 1 to 364)
  AUTHORS   Jackson FR, Banfi S, Guffanti A and Rossi E.
  TITLE     A novel zinc finger-containing RNA-binding protein conserved from
            fruitflies to humans
  JOURNAL   Genomics 41 (3), 444-452 (1997)
   PUBMED   9169144
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC366746.1 and BC032735.1.
            On Apr 25, 2006 this sequence version replaced NP_002887.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK225071.1, BC032735.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310092.12/ ENSP00000309166.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..364
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     Protein         1..364
                     /product="RNA-binding protein 4 isoform 1"
                     /note="zinc finger CCHC-type and RNA binding motif 3A;
                     transcriptional coactivator CoAZ; lark homolog;
                     RNA-binding motif protein 4a"
                     /calculated_mol_wt=40183
     Region          2..68
                     /region_name="RRM1_RBM4"
                     /note="RNA recognition motif 1 (RRM1) found in vertebrate
                     RNA-binding protein 4 (RBM4); cd12606"
                     /db_xref="CDD:410018"
     Region          78..144
                     /region_name="RRM2_RBM4"
                     /note="RNA recognition motif 2 (RRM2) found in vertebrate
                     RNA-binding protein 4 (RBM4); cd12607"
                     /db_xref="CDD:410019"
     Site            86
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BWF3.1)"
     Region          <145..>181
                     /region_name="PTZ00368"
                     /note="universal minicircle sequence binding protein
                     (UMSBP); Provisional"
                     /db_xref="CDD:173561"
     Region          161..176
                     /region_name="ZnF_C2HC"
                     /note="zinc finger; smart00343"
                     /db_xref="CDD:197667"
     Region          196..364
                     /region_name="Interaction with TNPO3.
                     /evidence=ECO:0000269|PubMed:12628928"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BWF3.1)"
     Site            309
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:17284590; propagated from
                     UniProtKB/Swiss-Prot (Q9BWF3.1)"
     CDS             1..364
                     /gene="RBM4"
                     /gene_synonym="LARK; RBM4A; ZCCHC21; ZCRB3A"
                     /coded_by="NM_002896.4:63..1157"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS41676.1"
                     /db_xref="GeneID:5936"
                     /db_xref="HGNC:HGNC:9901"
                     /db_xref="MIM:602571"
ORIGIN      
        1 mvklfignlp reateqeirs lfeqygkvle cdiiknygfv hiedktaaed airnlhhykl
       61 hgvninveas knksktstkl hvgnisptct nkelrakfee ygpviecdiv kdyafvhmer
      121 aedaveairg ldntefqgkr mhvqlstsrl rtapgmgdqs gcyrcgkegh wskecpidrs
      181 grvadlteqy neqygavrtp ytmsygdsly ynnaygalda yykrcraars yeavaaaaas
      241 vynyaeqtls qlpqvqntam ashltstsld pydrhllpts gaaataaaaa aaaaavtaas
      301 tsyygrdrsp lrratapvpt vgegygyghe selsqasaaa rnslydmary ereqyadrar
      361 ysaf
//
LOCUS       NP_001138550             494 aa            linear   PRI 12-DEC-2020
DEFINITION  zinc finger protein 805 isoform 2 [Homo sapiens].
ACCESSION   NP_001138550 XP_001718556 XP_001718600 XP_001719202
VERSION     NP_001138550.1
DBSOURCE    REFSEQ: accession NM_001145078.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 494)
  AUTHORS   Lasky-Su J, Neale BM, Franke B, Anney RJ, Zhou K, Maller JB,
            Vasquez AA, Chen W, Asherson P, Buitelaar J, Banaschewski T,
            Ebstein R, Gill M, Miranda A, Mulas F, Oades RD, Roeyers H,
            Rothenberger A, Sergeant J, Sonuga-Barke E, Steinhausen HC, Taylor
            E, Daly M, Laird N, Lange C and Faraone SV.
  TITLE     Genome-wide association scan of quantitative traits for attention
            deficit hyperactivity disorder identifies novel associations and
            confirms candidate gene associations
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 147B (8), 1345-1354 (2008)
   PUBMED   18821565
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005261.2 and AK297977.1.
            On or before Feb 10, 2009 this sequence version replaced
            XP_001718556.1, XP_001718600.1, XP_001719202.1.
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' coding region, compared to variant 1. This difference causes
            translation initiation at a downstream AUG and results in an
            isoform (2) with a shorter N-terminus compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968540,
                              SAMEA2145245 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..494
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     Protein         1..494
                     /product="zinc finger protein 805 isoform 2"
                     /note="CTC-444N24.8"
                     /calculated_mol_wt=56485
     Region          72..92
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(77,79,81,83..84,87..88,91,105,107,111..112,115..116,
                     119,133,135,137,139..140,143..144,147)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          85..109
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          100..120
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          124..>447
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          128..148
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          156..176
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          184..204
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          212..232
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          240..260
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          268..288
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(273,275,277,279..280,283..284,287,301,303,307..308,
                     311..312,315,329,331,333,335..336,339..340,343)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          296..316
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          324..344
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          352..372
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(357,359,361,363..364,367..368,371,385,387,391..392,
                     395..396,399,413,415,417,419..420,423..424,427)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          380..400
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          408..428
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..494
                     /gene="ZNF805"
                     /coded_by="NM_001145078.2:533..2017"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS46208.1"
                     /db_xref="GeneID:390980"
                     /db_xref="HGNC:HGNC:23272"
ORIGIN      
        1 mqgerlrpgl dsqkeklpgk mspkhdglgt adsvcsriiq drvslgddvh dcdshgsgkn
       61 pviqeeenif kcnecekvfn kkrllarher ihsgvkpyec tecgktfsks tyllqhhmvh
      121 tgekpykcme cgkafnrksh ltqhqrihsg ekpykcsecg kafthrstfv lhnrshtgek
      181 pfvckecgka frdrpgfirh yiihsgenpy ecfecgkvfk hrsylmwhqq thtgekpyec
      241 secgkafces aalihhyvih tgekpfecle cgkafnhrsy lkrhqrihtg ekpyvcsecg
      301 kafthcstfi lhkrahtgek pfeckecgka fsnradlirh fsihtgekpy ecmecgkafn
      361 rrsgltrhqr ihsgekpyec iecgktfcws tnlirhsiih tgekpyecse cgkafsrsss
      421 ltqhqrmhtg rnpisvtdvg rpftsgqtsv niqelllgkn flnvtteenl lqeeasymas
      481 drtyqretpq vssl
//
LOCUS       NP_705611                 78 aa            linear   PRI 16-SEP-2022
DEFINITION  putative chondrosarcoma-associated gene 1 protein [Homo sapiens].
ACCESSION   NP_705611
VERSION     NP_705611.2
DBSOURCE    REFSEQ: accession NM_153478.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 78)
  AUTHORS   Sapkota H, Wren JD and Gorbsky GJ.
  TITLE     CSAG1 maintains the integrity of the mitotic centrosome in cells
            with defective p53
  JOURNAL   J Cell Sci 133 (10) (2020)
   PUBMED   32295846
  REMARK    GeneRIF: CSAG1 maintains the integrity of the mitotic centrosome in
            cells with defective p53.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 78)
  AUTHORS   Qi Y, Lu H and Ai D.
  TITLE     Analysis of compensatory substitution and gene evolution on the
            MAGEA/CSAG-palindrome of the primate X chromosomes
  JOURNAL   Comput Biol Chem 42, 18-22 (2013)
   PUBMED   23257410
REFERENCE   3  (residues 1 to 78)
  AUTHORS   Szperl AM, Ricano-Ponce I, Li JK, Deelen P, Kanterakis A, Plagnol
            V, van Dijk F, Westra HJ, Trynka G, Mulder CJ, Swertz M, Wijmenga C
            and Zheng HC.
  TITLE     Exome sequencing in a family segregating for celiac disease
  JOURNAL   Clin Genet 80 (2), 138-147 (2011)
   PUBMED   21627641
REFERENCE   4  (residues 1 to 78)
  AUTHORS   Hansen MA, Nielsen JE, Retelska D, Larsen N and Leffers H.
  TITLE     A shared promoter region suggests a common ancestor for the human
            VCX/Y, SPANX, and CSAG gene families and the murine CYPT family
  JOURNAL   Mol Reprod Dev 75 (2), 219-229 (2008)
   PUBMED   17342728
REFERENCE   5  (residues 1 to 78)
  AUTHORS   Lin C, Mak S, Meitner PA, Wolf JM, Bluman EM, Block JA and Terek
            RM.
  TITLE     Cancer/testis antigen CSAGE is concurrently expressed with MAGE in
            chondrosarcoma
  JOURNAL   Gene 285 (1-2), 269-278 (2002)
   PUBMED   12039054
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF195880.1, AF268419.1 and
            BC059947.1.
            On Jun 27, 2014 this sequence version replaced NP_705611.1.
            
            Summary: This gene encodes a member of a family of tumor antigens.
            The protein is expressed in chondrosarcomas, but may also be
            expressed in normal tissues such as testis. Alternative splicing of
            this gene results in two transcript variants encoding the same
            protein. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (a) represents the longer
            transcript. Variants a and c both encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF195880.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1968968 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..78
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..78
                     /product="putative chondrosarcoma-associated gene 1
                     protein"
                     /note="cancer/testis antigen family 24, member 1;
                     cancer/testis antigen 24.1; cancer/testis antigen CSAGE"
                     /calculated_mol_wt=8566
     CDS             1..78
                     /gene="CSAG1"
                     /gene_synonym="CSAGE; CT24.1"
                     /coded_by="NM_153478.3:315..551"
                     /db_xref="CCDS:CCDS76047.1"
                     /db_xref="GeneID:158511"
                     /db_xref="HGNC:HGNC:24294"
                     /db_xref="MIM:300944"
ORIGIN      
        1 msattacwpa ftvlgeargd qvdwsrlyrd tglvkmsrkp rasspfsnnh pstpkrfprq
       61 prrekgpvke vpgtkgsp
//
LOCUS       NP_001356824            1533 aa            linear   PRI 17-DEC-2022
DEFINITION  centriolin isoform 6 [Homo sapiens].
ACCESSION   NP_001356824 XP_016869717
VERSION     NP_001356824.1
DBSOURCE    REFSEQ: accession NM_001369895.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1533)
  AUTHORS   Brown LM, Bartolo RC, Davidson NM, Schmidt B, Brooks I, Challis J,
            Petrovic V, Khuong-Quang DA, Mechinaud F, Khaw SL, Majewski IJ,
            Oshlack A and Ekert PG.
  TITLE     Targeted therapy and disease monitoring in CNTRL-FGFR1-driven
            leukaemia
  JOURNAL   Pediatr Blood Cancer 66 (10), e27897 (2019)
   PUBMED   31250523
  REMARK    GeneRIF: In this study, we present two new cases of CNTRL-FGFR1
            fusion
REFERENCE   2  (residues 1 to 1533)
  AUTHORS   Ren M, Qin H, Kitamura E and Cowell JK.
  TITLE     Dysregulated signaling pathways in the development of
            CNTRL-FGFR1-induced myeloid and lymphoid malignancies associated
            with FGFR1 in human and mouse models
  JOURNAL   Blood 122 (6), 1007-1016 (2013)
   PUBMED   23777766
  REMARK    GeneRIF: CNTRL and FGFR1 have roles in myeloid and lymphoid
            malignancies in both human and mouse models
REFERENCE   3  (residues 1 to 1533)
  AUTHORS   Sonnen KF, Schermelleh L, Leonhardt H and Nigg EA.
  TITLE     3D-structured illumination microscopy provides novel insight into
            architecture of human centrosomes
  JOURNAL   Biol Open 1 (10), 965-976 (2012)
   PUBMED   23213374
REFERENCE   4  (residues 1 to 1533)
  AUTHORS   Kennedy RB, Ovsyannikova IG, Pankratz VS, Haralambieva IH, Vierkant
            RA and Poland GA.
  TITLE     Genome-wide analysis of polymorphisms associated with cytokine
            responses in smallpox vaccine recipients
  JOURNAL   Hum Genet 131 (9), 1403-1421 (2012)
   PUBMED   22610502
REFERENCE   5  (residues 1 to 1533)
  AUTHORS   Jakobsen L, Vanselow K, Skogs M, Toyoda Y, Lundberg E, Poser I,
            Falkenby LG, Bennetzen M, Westendorf J, Nigg EA, Uhlen M, Hyman AA
            and Andersen JS.
  TITLE     Novel asymmetrically localizing components of human centrosomes
            identified by complementary proteomics methods
  JOURNAL   EMBO J 30 (8), 1520-1535 (2011)
   PUBMED   21399614
REFERENCE   6  (residues 1 to 1533)
  AUTHORS   Mayor T, Stierhof YD, Tanaka K, Fry AM and Nigg EA.
  TITLE     The centrosomal protein C-Nap1 is required for cell cycle-regulated
            centrosome cohesion
  JOURNAL   J Cell Biol 151 (4), 837-846 (2000)
   PUBMED   11076968
REFERENCE   7  (residues 1 to 1533)
  AUTHORS   Guasch G, Mack GJ, Popovici C, Dastugue N, Birnbaum D, Rattner JB
            and Pebusque MJ.
  TITLE     FGFR1 is fused to the centrosome-associated protein CEP110 in the
            8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33)
  JOURNAL   Blood 95 (5), 1788-1796 (2000)
   PUBMED   10688839
REFERENCE   8  (residues 1 to 1533)
  AUTHORS   Osaki E, Nishina Y, Inazawa J, Copeland NG, Gilbert DJ, Jenkins NA,
            Ohsugi M, Tezuka T, Yoshida M and Semba K.
  TITLE     Identification of a novel Sry-related gene and its germ
            cell-specific expression
  JOURNAL   Nucleic Acids Res 27 (12), 2503-2510 (1999)
   PUBMED   10359848
REFERENCE   9  (residues 1 to 1533)
  AUTHORS   Schutze S, Machleidt T, Adam D, Schwandner R, Wiegmann K, Kruse ML,
            Heinrich M, Wickel M and Kronke M.
  TITLE     Inhibition of receptor internalization by monodansylcadaverine
            selectively blocks p55 tumor necrosis factor receptor death domain
            signaling
  JOURNAL   J Biol Chem 274 (15), 10203-10212 (1999)
   PUBMED   10187805
REFERENCE   10 (residues 1 to 1533)
  AUTHORS   Golsteyn RM, Mundt KE, Fry AM and Nigg EA.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006430.22 and AL137068.10.
            On Apr 23, 2019 this sequence version replaced XP_016869717.1.
            
            Summary: This gene encodes a centrosomal protein required for the
            centrosome to function as a microtubule organizing center. The gene
            product is also associated with centrosome maturation. One version
            of stem cell myeloproliferative disorder is the result of a
            reciprocal translocation between chromosomes 8 and 9, with the
            breakpoint associated with fibroblast growth factor receptor 1 and
            centrosomal protein 1. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.85007.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2145313
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1533
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     Protein         1..1533
                     /product="centriolin isoform 6"
                     /note="centriole associated protein; centrosomal protein
                     110kDa; bA165P4.1 (ortholog of mouse Ma2a8); bA165P4.2
                     (centrosomal protein 1); 110 kDa centrosomal protein;
                     centrosomal protein of 110 kDa"
                     /calculated_mol_wt=176557
     Region          <4..112
                     /region_name="LRR_9"
                     /note="Leucine-rich repeat; pfam14580"
                     /db_xref="CDD:405295"
     Region          4..27
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          28..52
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          53..79
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          268..>965
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          <1018..>1132
                     /region_name="Pro-rich"
                     /note="Proline-rich; pfam15240"
                     /db_xref="CDD:434562"
     Region          1183..>1503
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1533
                     /gene="CNTRL"
                     /gene_synonym="bA165P4.1; CEP1; CEP110; FAN"
                     /coded_by="NM_001369895.1:688..5289"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="GeneID:11064"
                     /db_xref="HGNC:HGNC:1858"
                     /db_xref="MIM:605496"
ORIGIN      
        1 mcnlqklnla gneiehipvw lgkklkslrv lnlkgnkiss lqdisklkpl qdlislilve
       61 npvvtlphyl qftifhlrsl eslegqpvtt qdrqeaferf sleeverler dlekkmiete
      121 elkskqtrfl eeiknqdkln kslkeeamlq kqsceelksd lntknellkq ktieltracq
      181 kqyeleqela fykidakfep lnyypseyae idkapdespy igksrykrnm fatesyiids
      241 aqavqikkme pdeqlrndhm nlrghtpldt qledkekkis aaqtrlselh deiekaeqqi
      301 lrateefkql eeaiqlkkis eagkdllykq lsgrlqlvnk lrqealdlel qmekqkqeia
      361 gkqkeikdlq iaidsldskd pkhshmkaqk sgkeqqldim nkqyqqlesr ldeilsriak
      421 eteeikdlee qltegqiaan ealkkdlegv isglqeylgt ikgqatqaqn ecrklrdeke
      481 tllqrlteve qerdqleiva mdaenmrkel aelesalqeq hevnaslqqt qgdlsayeae
      541 learlnlrda eanqlkeele kvtrltqleq salqaeleke rqalknalgk aqfseekeqe
      601 nselhaklkh lqddnnllkq qlkdfqnhln hvvdglvrpe evaarvdelr rklklgtgem
      661 nihspsdvlg ksladlqkqf seilarskwe rdeaqvrerk lqeemalqqe klatgqeefr
      721 qaceralear mnfdkrqhea riqqmeneih ylqenlksme eiqgltdlql qeadeekeri
      781 laqlrelekk kkledaksqe qvfgldkelk klkkavatsd klataeltia kdqlkslhgt
      841 vmkinqerae elqeaerfsr kaaqaardlt raeaeiellq nllrqkgeqf rlemektgvg
      901 tgansqvlei eklnetmerq rteiarlqnv ldltgsdnkg gfenvleeia elrrevsyqn
      961 dyissmadpf krrgywyfmp pppsskvssh ssqatkdsgv glkysastpv rkprpgqqdg
     1021 kegsqpppas gywvyspirs glhklfpsrd adsggdsqee selddqeepp fvpppgymmy
     1081 tvlpdgspvp qgmalyappp plpnnsrplt pgtvvygppp agapmvygpp ppnfsipfip
     1141 mgvlhcnvpe hhnlenevsr ledimqhlks kkreerwmra skrqsekeme elhhniddll
     1201 qekkslecev eelhrtvqkr qqqkdfidgn veslmtelei ekslkhhedi vdeieciekt
     1261 llkrrselre adrllaeaes elsctkektk navekftdak rsllqtesda eelerraqet
     1321 avnlvkadqq lrslqadakd leqhkikqee ilkeinkiva akdsdfqcls kkkeklteel
     1381 qklqkdiema ernedhhlqv lkesevllqa kraeleklks qvtsqqqema vldrqlghkk
     1441 eelhllqgsm vqakadlqea lrlgetevte kcnhirevks lleelsfqkg elnvqiserk
     1501 tqltlikqei ekeeenlqvv lrqmskhkta flq
//
LOCUS       NP_115663                239 aa            linear   PRI 18-DEC-2022
DEFINITION  retrotransposon Gag-like protein 6 [Homo sapiens].
ACCESSION   NP_115663
VERSION     NP_115663.2
DBSOURCE    REFSEQ: accession NM_032287.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 239)
  AUTHORS   Brandt J, Schrauth S, Veith AM, Froschauer A, Haneke T, Schultheis
            C, Gessler M, Leimeister C and Volff JN.
  TITLE     Transposable elements as a source of genetic innovation: expression
            and evolution of a family of retrotransposon-derived neogenes in
            mammals
  JOURNAL   Gene 345 (1), 101-111 (2005)
   PUBMED   15716091
REFERENCE   2  (residues 1 to 239)
  AUTHORS   Brandt J, Veith AM and Volff JN.
  TITLE     A family of neofunctionalized Ty3/gypsy retrotransposon genes in
            mammalian genomes
  JOURNAL   Cytogenet Genome Res 110 (1-4), 307-317 (2005)
   PUBMED   16093683
REFERENCE   3  (residues 1 to 239)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Z75407.2, BC030232.1, AL136553.1 and BC018713.1.
            On Jun 28, 2004 this sequence version replaced NP_115663.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.123001.1,
                                           SRR1803614.260014.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000341255.4/ ENSP00000340434.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..239
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.31"
     Protein         1..239
                     /product="retrotransposon Gag-like protein 6"
                     /note="protein LDOC1L; mammalian retrotransposon-derived
                     protein 6; leucine zipper protein down-regulated in cancer
                     cells-like; leucine zipper down-regulated in cancer 1
                     like; Sushi-Ichi retrotransposon homolog 3; mammalian
                     retrotransposon-derived 6; LDOC1 like"
                     /calculated_mol_wt=26023
     Region          82..106
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ICC9.1)"
     Region          <98..177
                     /region_name="DUF4939"
                     /note="Domain of unknown function (DUF4939); pfam16297"
                     /db_xref="CDD:406657"
     Region          214..239
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ICC9.1)"
     CDS             1..239
                     /gene="RTL6"
                     /gene_synonym="dJ1033E15.2; LDOC1L; Mar6; Mart6; SIRH3"
                     /coded_by="NM_032287.3:446..1165"
                     /db_xref="CCDS:CCDS33662.1"
                     /db_xref="GeneID:84247"
                     /db_xref="HGNC:HGNC:13343"
ORIGIN      
        1 mvqpqtskae spalaaspna qmddvidtlt slrltnsalr reastlraek anltnmlesv
       61 maeltllrtr aripgalqit ppissitsng trpmttppts lpepfsgdpg rlagflmqmd
      121 rfmifqasrf pgeaervafl vsrltgeaek waiphmqpds plrnnyqgfl aelrrtyksp
      181 lrharraqir ktsasnravr erqmlcrqla sagtgpcpvh pasngtspap alpararnl
//
LOCUS       NP_001309116             836 aa            linear   PRI 18-DEC-2022
DEFINITION  contactin-associated protein-like 4 isoform 7 [Homo sapiens].
ACCESSION   NP_001309116
VERSION     NP_001309116.1
DBSOURCE    REFSEQ: accession NM_001322187.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 836)
  AUTHORS   Zhang W, Zhou M, Lu W, Gong J, Gao F, Li Y, Xu X, Lin Y, Zhang X,
            Ding L, Zhang Z, Li G, Chen X, Sun X, Zhu X, Xu P and Zhang Y.
  TITLE     CNTNAP4 deficiency in dopaminergic neurons initiates parkinsonian
            phenotypes
  JOURNAL   Theranostics 10 (7), 3000-3021 (2020)
   PUBMED   32194851
  REMARK    GeneRIF: CNTNAP4 deficiency in dopaminergic neurons initiates
            parkinsonian phenotypes.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 836)
  AUTHORS   Shangguan Y, Xu X, Ganbat B, Li Y, Wang W, Yang Y, Lu X, Du C, Tian
            X and Wang X.
  TITLE     CNTNAP4 Impacts Epilepsy Through GABAA Receptors Regulation:
            Evidence From Temporal Lobe Epilepsy Patients and Mouse Models
  JOURNAL   Cereb Cortex 28 (10), 3491-3504 (2018)
   PUBMED   28968899
  REMARK    GeneRIF: we demonstrated that the expression of
            contactin-associated protein-like 4 (CNTNAP4) was decreased in the
            temporal neocortex of epileptic patients
REFERENCE   3  (residues 1 to 836)
  AUTHORS   Kennedy RB, Ovsyannikova IG, Haralambieva IH, Lambert ND, Pankratz
            VS and Poland GA.
  TITLE     Genome-wide SNP associations with rubella-specific cytokine
            responses in measles-mumps-rubella vaccine recipients
  JOURNAL   Immunogenetics 66 (7-8), 493-499 (2014)
   PUBMED   24811271
REFERENCE   4  (residues 1 to 836)
  AUTHORS   Iakoubov L, Mossakowska M, Szwed M, Duan Z, Sesti F and
            Puzianowska-Kuznicka M.
  TITLE     A common copy number variation (CNV) polymorphism in the CNTNAP4
            gene: association with aging in females
  JOURNAL   PLoS One 8 (11), e79790 (2013)
   PUBMED   24223195
  REMARK    GeneRIF: This study is the first demonstration for association of
            the CNTNAP4 gene and one of its intronic CNV polymorphisms with
            aging.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 836)
  AUTHORS   Hart AB, Engelhardt BE, Wardle MC, Sokoloff G, Stephens M, de Wit H
            and Palmer AA.
  TITLE     Genome-wide association study of d-amphetamine response in healthy
            volunteers identifies putative associations, including cadherin 13
            (CDH13)
  JOURNAL   PLoS One 7 (8), e42646 (2012)
   PUBMED   22952603
REFERENCE   6  (residues 1 to 836)
  AUTHORS   Dastani Z, Pajukanta P, Marcil M, Rudzicz N, Ruel I, Bailey SD, Lee
            JC, Lemire M, Faith J, Platko J, Rioux J, Hudson TJ, Gaudet D,
            Engert JC and Genest J.
  TITLE     Fine mapping and association studies of a high-density lipoprotein
            cholesterol linkage region on chromosome 16 in French-Canadian
            subjects
  JOURNAL   Eur J Hum Genet 18 (3), 342-347 (2010)
   PUBMED   19844255
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 836)
  AUTHORS   Nordgard SH, Johansen FE, Alnaes GI, Bucher E, Syvanen AC, Naume B,
            Borresen-Dale AL and Kristensen VN.
  TITLE     Genome-wide analysis identifies 16q deletion associated with
            survival, molecular subtypes, mRNA expression, and germline
            haplotypes in breast cancer patients
  JOURNAL   Genes Chromosomes Cancer 47 (8), 680-696 (2008)
   PUBMED   18398821
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 836)
  AUTHORS   Kim JM, Lee KH, Jeon YJ, Oh JH, Jeong SY, Song IS, Kim JM, Lee DS
            and Kim NS.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
REFERENCE   9  (residues 1 to 836)
  AUTHORS   Nakayama M, Kikuno R and Ohara O.
  TITLE     Protein-protein interactions between large proteins: two-hybrid
            screening using a functionally classified library composed of long
            cDNAs
  JOURNAL   Genome Res 12 (11), 1773-1784 (2002)
   PUBMED   12421765
REFERENCE   10 (residues 1 to 836)
  AUTHORS   Spiegel I, Salomon D, Erne B, Schaeren-Wiemers N and Peles E.
  TITLE     Caspr3 and caspr4, two novel members of the caspr family are
            expressed in the nervous system and interact with PDZ domains
  JOURNAL   Mol Cell Neurosci 20 (2), 283-297 (2002)
   PUBMED   12093160
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from FO681478.1, AC010528.8,
            AC106741.3 and AC108125.4.
            
            Summary: This gene encodes a member of the neurexin protein family.
            Members of this family function in the vertebrate nervous system as
            cell adhesion molecules and receptors. This protein contains
            epidermal growth factor repeats and laminin G domains. In addition,
            it includes an F5/8 type C domain, discoidin/neuropilin- and
            fibrinogen-like domains, and thrombospondin N-terminal-like
            domains. This protein may also play a role in proper
            neurotransmission in the dopaminergic and GABAergic systems and
            mutations in this gene may be associated with certain psychiatric
            illnesses. A polymorphism in an intron of this gene may be
            associated with longevity. [provided by RefSeq, Apr 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.245806.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1968968 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..836
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q23.1"
     Protein         1..836
                     /product="contactin-associated protein-like 4 isoform 7"
                     /note="cell recognition molecule Caspr4; contactin
                     associated protein like 4"
                     /calculated_mol_wt=92625
     Region          <2..52
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cl22861"
                     /db_xref="CDD:451433"
     Region          81..112
                     /region_name="EGF"
                     /note="EGF-like domain; pfam00008"
                     /db_xref="CDD:394967"
     Region          120..>167
                     /region_name="FReD"
                     /note="Fibrinogen-related domains (FReDs); C terminal
                     globular domain of fibrinogen. Fibrinogen is involved in
                     blood clotting, being activated by thrombin to assemble
                     into fibrin clots. The N-termini of 2 times 3 chains come
                     together to form a globular...; cl00085"
                     /db_xref="CDD:412152"
     Region          132..>215
                     /region_name="COLFI"
                     /note="Fibrillar collagen C-terminal domain; cl02436"
                     /db_xref="CDD:445783"
     Region          322..466
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cd00110"
                     /db_xref="CDD:238058"
     Region          490..524
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Region          574..704
                     /region_name="Laminin_G_2"
                     /note="Laminin G domain; pfam02210"
                     /db_xref="CDD:426661"
     CDS             1..836
                     /gene="CNTNAP4"
                     /gene_synonym="CASPR4"
                     /coded_by="NM_001322187.2:1744..4254"
                     /note="isoform 7 is encoded by transcript variant 9"
                     /db_xref="GeneID:85445"
                     /db_xref="HGNC:HGNC:18747"
                     /db_xref="MIM:610518"
ORIGIN      
        1 masaapllgp eqiysggtyy fggcpdksfg skcksplggf qgcmrlisis gkvvdlisvq
       61 qgslgnfsdl qidscgisdr clpnycehgg ecsqswstfh cnctntgyrg atchnsiyeq
      121 sceaykhrgn tsgfyyidsd gsgplepfll ycnmtetawt iiqhngsdlt rvrntnpenp
      181 yagffeyvas meqlqatinr aehceqefty yckksrlvnk qdgtplswwv grtnetqtyw
      241 ggsspdlqkc tcglegncid sqyycncdad rnewtndtgl laykehlpvt kivitdtgrl
      301 hseaayklgp llcqgdrsfw nsasfdteas ylhfptfhge lsadvsfffk ttassgvfle
      361 nlgiadfiri elrsptvvtf sfdvgngpfe isvqspthfn dnqwhhvrve rnmkeaslqv
      421 dqltpktqpa padghvllql nsqlfvggta trqrgflgci rslqlngmtl dleeraqvtp
      481 evqpgcrghc ssygklcrng gkcrerpigf fcdctfsayt gpfcsneisa yfgsgssviy
      541 nfqenyllsk nssshaasfh gdmklsremi kfsfrttrtp slllfvssfy keylsviiak
      601 ngslqirykl nkyqepdvvn fdfknmadgq lhhiminree gvvfieiddn rrrqvhlssg
      661 tefsavkslv lgrilehsdv dqdtalagaq gftgclsavq lshvaplkaa lhpshpdpvt
      721 vtghvtessc maqpgtdats rerthsfadh sgtiddrepl anaiksdsav iggliavvif
      781 illcitaiav riyqqkrlyk rseakrsenv dsaeavlkse lniqnavnen qkeyff
//
LOCUS       NP_001119806             416 aa            linear   PRI 21-DEC-2022
DEFINITION  forkhead box protein D4-like 5 [Homo sapiens].
ACCESSION   NP_001119806
VERSION     NP_001119806.1
DBSOURCE    REFSEQ: accession NM_001126334.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 416)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y,
            Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier
            M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW,
            Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA,
            French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG,
            Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S,
            Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart
            EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ,
            Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw
            JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J,
            Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE,
            McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV,
            Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S,
            Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce
            CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe
            A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP,
            Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L,
            Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T,
            Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   2  (residues 1 to 416)
  AUTHORS   Freyaldenhoven BS, Fried C and Wielckens K.
  TITLE     FOXD4a and FOXD4b, two new winged helix transcription factors, are
            expressed in human leukemia cell lines
  JOURNAL   Gene 294 (1-2), 131-140 (2002)
   PUBMED   12234674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL512605.13.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377420.1/ ENSP00000366637.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..416
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.11"
     Protein         1..416
                     /product="forkhead box protein D4-like 5"
                     /note="FOXD4-like 5"
                     /calculated_mol_wt=45649
     Region          1..55
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VV16.1)"
     Region          70..105
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VV16.1)"
     Region          108..203
                     /region_name="FH_FOXD4-like"
                     /note="Forkhead (FH) domain found in Forkhead box protein
                     D4 (FOXD4) and similar proteins; cd20048"
                     /db_xref="CDD:410822"
     Site            order(109..114,131..132,150..151,153..155,157..159,162,
                     168..173,175,177..182,199..203)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410822"
     CDS             1..416
                     /gene="FOXD4L5"
                     /gene_synonym="bA15J10.2"
                     /coded_by="NM_001126334.1:833..2083"
                     /db_xref="CCDS:CCDS47977.1"
                     /db_xref="GeneID:653427"
                     /db_xref="HGNC:HGNC:18522"
ORIGIN      
        1 mnlpraerpr stpqrslrds dgedgkidvl geeededeve deeeearqqf leqslqpglq
       61 varwggvalp rehieggggp sdpsefgtkf rapprsaaas edarqpakpp ysyialitma
      121 ilqnphkrlt lsgicafisg rfpyyrrkfp awqnsirhnl slndcfvkip repghpgkgn
      181 ywsldpasqd mfdngsflrr rkrfkrhqlt pgahlphpfp lpaahaalhn phpgpllgap
      241 appqpvpgay pntapgrcpy allhphplry lllsapvyag apkkaegadl atpapfpccs
      301 phlvlslgrr arvwrrhrea daslsalrvl ckgsgervqg lrrvcprprg atatcssdhq
      361 accipkplpl cckcppplll gqfcsnsssi rrtaptaalp prarcwagtc rprrrc
//
LOCUS       NP_660335                443 aa            linear   PRI 24-DEC-2022
DEFINITION  inactive polypeptide N-acetylgalactosaminyltransferase-like protein
            5 [Homo sapiens].
ACCESSION   NP_660335
VERSION     NP_660335.2
DBSOURCE    REFSEQ: accession NM_145292.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 443)
  AUTHORS   Hagiuda J, Takasaki N, Oya M, Ishikawa H and Narimatsu H.
  TITLE     Mutation of GALNTL5 gene identified in patients diagnosed with
            asthenozoospermia
  JOURNAL   Hum Fertil (Camb) 23 (4), 226-233 (2020)
   PUBMED   30628500
  REMARK    GeneRIF: Mutation of GALNTL5 gene identified in patients diagnosed
            with asthenozoospermia.
REFERENCE   2  (residues 1 to 443)
  AUTHORS   Takasaki N, Tachibana K, Ogasawara S, Matsuzaki H, Hagiuda J,
            Ishikawa H, Mochida K, Inoue K, Ogonuki N, Ogura A, Noce T, Ito C,
            Toshimori K and Narimatsu H.
  TITLE     A heterozygous mutation of GALNTL5 affects male infertility with
            impairment of sperm motility
  JOURNAL   Proc Natl Acad Sci U S A 111 (3), 1120-1125 (2014)
   PUBMED   24398516
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC022021.2, AC074257.5 and AW103179.1.
            On Dec 23, 2009 this sequence version replaced NP_660335.1.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the functional protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC022021.2, HM005684.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392800.7/ ENSP00000376548.2
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..443
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     Protein         1..443
                     /product="inactive polypeptide
                     N-acetylgalactosaminyltransferase-like protein 5"
                     /note="putative polypeptide
                     N-acetylgalactosaminyltransferase-like protein 5;
                     galNAc-T15; pp-GaNTase 15; polypeptide GalNAc transferase
                     15; UDP-N-acetyl-alpha-D-galactosamine:polypeptide
                     N-acetylgalactosaminyltransferase-like 5; polypeptide
                     GalNAc transferase-like 5; protein-UDP
                     acetylgalactosaminyltransferase 15; UDP-GalNAc:polypeptide
                     N-acetylgalactosaminyltransferase 15; testis tissue
                     sperm-binding protein Li 61n"
                     /calculated_mol_wt=51297
     Site            5..27
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z4T8.3)"
     Site            87
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4T8.3)"
     Region          133..243
                     /region_name="Catalytic subdomain A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z4T8.3)"
     Region          137..433
                     /region_name="pp-GalNAc-T"
                     /note="pp-GalNAc-T initiates the formation of mucin-type
                     O-linked glycans; cd02510"
                     /db_xref="CDD:133004"
     Site            order(141..143,145,174,204,207,211,227..229,309..310,
                     332..333,335,360,363,370)
                     /site_type="active"
                     /note="ligand binding site [active]"
                     /db_xref="CDD:133004"
     Site            order(227,229,360)
                     /site_type="active"
                     /note="Mn binding site [active]"
                     /db_xref="CDD:133004"
     Region          301..363
                     /region_name="Catalytic subdomain B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z4T8.3)"
     CDS             1..443
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /coded_by="NM_145292.4:204..1535"
                     /db_xref="CCDS:CCDS5929.1"
                     /db_xref="GeneID:168391"
                     /db_xref="HGNC:HGNC:21725"
                     /db_xref="MIM:615133"
ORIGIN      
        1 mrnaiiqglf ygsltfgiwt allfiylhhn hvsswqkksq eplsawspgk kvhqqiiygs
       61 eqipkphviv krtdedkaks mlgtdfnhtn pelhkellky gfnviisrsl gierevpdtr
      121 skmclqkhyp arlptasivi cfyneecnal fqtmssvtnl tphyfleeii lvddmskvdd
      181 lkekldyhle tfrgkvkiir nkkreglira rligashasg dvlvfldshc evnrvwlepl
      241 lhaiakdpkm vvcplidvid drtleykpsp lvrgtfdwnl qfkwdnvfsy emdgpegstk
      301 pirspamsgg ifairrhyfn eigqydkdmd fwgrenlels lriwmcggql fiipcsrvgh
      361 iskkqtgkps tiisamthny lrlvhvwlde ykeqfflrkp glkyvtygni rervelrkrl
      421 gcksfqwyld nvfpeleasv nsl
//
LOCUS       NP_955452               2590 aa            linear   PRI 24-DEC-2022
DEFINITION  DNA polymerase theta [Homo sapiens].
ACCESSION   NP_955452 NP_054844
VERSION     NP_955452.3
DBSOURCE    REFSEQ: accession NM_199420.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2590)
  AUTHORS   Liu Y, Zhu X, Wang Z, Dai X and You C.
  TITLE     Next-Generation Sequencing-Based Analysis of the Roles of DNA
            Polymerases nu and theta; in the Replicative Bypass of
            8-Oxo-7,8-dihydroguanine in Human Cells
  JOURNAL   ACS Chem Biol 17 (8), 2315-2319 (2022)
   PUBMED   35815634
  REMARK    GeneRIF: Next-Generation Sequencing-Based Analysis of the Roles of
            DNA Polymerases nu and theta in the Replicative Bypass of
            8-Oxo-7,8-dihydroguanine in Human Cells.
REFERENCE   2  (residues 1 to 2590)
  AUTHORS   Chan KY, Li X, Ortega J, Gu L and Li GM.
  TITLE     DNA polymerase theta; promotes CAG*CTG repeat expansions in
            Huntington's disease via insertion sequences of its catalytic
            domain
  JOURNAL   J Biol Chem 297 (4), 101144 (2021)
   PUBMED   34473992
  REMARK    GeneRIF: DNA polymerase theta promotes CAG*CTG repeat expansions in
            Huntington's disease via insertion sequences of its catalytic
            domain.
REFERENCE   3  (residues 1 to 2590)
  AUTHORS   Feldman T, Bercovich A, Moskovitz Y, Chapal-Ilani N, Mitchell A,
            Medeiros JJF, Biezuner T, Kaushansky N, Minden MD, Gupta V,
            Milyavsky M, Livneh Z, Tanay A and Shlush LI.
  TITLE     Recurrent deletions in clonal hematopoiesis are driven by
            microhomology-mediated end joining
  JOURNAL   Nat Commun 12 (1), 2455 (2021)
   PUBMED   33911081
  REMARK    GeneRIF: Recurrent deletions in clonal hematopoiesis are driven by
            microhomology-mediated end joining.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 2590)
  AUTHORS   Maiorano D, El Etri J, Franchet C and Hoffmann JS.
  TITLE     Translesion Synthesis or Repair by Specialized DNA Polymerases
            Limits Excessive Genomic Instability upon Replication Stress
  JOURNAL   Int J Mol Sci 22 (8), 3924 (2021)
   PUBMED   33920223
  REMARK    GeneRIF: Translesion Synthesis or Repair by Specialized DNA
            Polymerases Limits Excessive Genomic Instability upon Replication
            Stress.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 2590)
  AUTHORS   Zahn KE, Jensen RB, Wood RD and Doublie S.
  TITLE     Human DNA polymerase theta; harbors DNA end-trimming activity
            critical for DNA repair
  JOURNAL   Mol Cell 81 (7), 1534-1547 (2021)
   PUBMED   33577776
  REMARK    GeneRIF: Human DNA polymerase theta harbors DNA end-trimming
            activity critical for DNA repair.
REFERENCE   6  (residues 1 to 2590)
  AUTHORS   Kawamura K, Bahar R, Seimiya M, Chiyo M, Wada A, Okada S, Hatano M,
            Tokuhisa T, Kimura H, Watanabe S, Honda I, Sakiyama S, Tagawa M and
            O-Wang J.
  TITLE     DNA polymerase theta is preferentially expressed in lymphoid
            tissues and upregulated in human cancers
  JOURNAL   Int J Cancer 109 (1), 9-16 (2004)
   PUBMED   14735462
  REMARK    GeneRIF: DNA Pol theta has a specialized function in lymphocytes
            and in tumor progression
REFERENCE   7  (residues 1 to 2590)
  AUTHORS   Seki M, Marini F and Wood RD.
  TITLE     POLQ (Pol theta), a DNA polymerase and DNA-dependent ATPase in
            human cells
  JOURNAL   Nucleic Acids Res 31 (21), 6117-6126 (2003)
   PUBMED   14576298
  REMARK    GeneRIF: the isolation of the full-length human DNA POLQ gene, and
            an initial characterization of its gene product, DNA polymerase
            theta
REFERENCE   8  (residues 1 to 2590)
  AUTHORS   Maga G, Shevelev I, Ramadan K, Spadari S and Hubscher U.
  TITLE     DNA polymerase theta purified from human cells is a high-fidelity
            enzyme
  JOURNAL   J Mol Biol 319 (2), 359-369 (2002)
   PUBMED   12051913
  REMARK    GeneRIF: DNA polymerase theta purified from human cells is a
            high-fidelity enzyme.
REFERENCE   9  (residues 1 to 2590)
  AUTHORS   Sharief FS, Vojta PJ, Ropp PA and Copeland WC.
  TITLE     Cloning and chromosomal mapping of the human DNA polymerase theta
            (POLQ), the eighth human DNA polymerase
  JOURNAL   Genomics 59 (1), 90-96 (1999)
   PUBMED   10395804
REFERENCE   10 (residues 1 to 2590)
  AUTHORS   Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and
            Morton CC.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY338826.2, AC069239.16, AB209867.1 and AC079841.10.
            On Apr 3, 2007 this sequence version replaced NP_955452.2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript matching the
            genomic sequence was available for the full length of the gene. The
            extent of this transcript is supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY338826.2, AB209867.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264233.6/ ENSP00000264233.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2590
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33"
     Protein         1..2590
                     /product="DNA polymerase theta"
                     /EC_number="2.7.7.7"
                     /note="polymerase (DNA directed), theta; polymerase (DNA)
                     theta; epididymis secretory sperm binding protein"
                     /calculated_mol_wt=289489
     Region          1..33
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75417.2)"
     Region          76..829
                     /region_name="BRR2"
                     /note="Replicative superfamily II helicase [Replication,
                     recombination and repair]; COG1204"
                     /db_xref="CDD:224125"
     Region          76..289
                     /region_name="DEXHc_POLQ-like"
                     /note="DEXH-box helicase domain of DNA polymerase theta;
                     cd18026"
                     /db_xref="CDD:350784"
     Site            order(89,91,96,117..123,216)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350784"
     Site            order(146..147,174,190,192..193,196,226)
                     /site_type="other"
                     /note="nucleic acid binding site [nucleotide binding]"
                     /db_xref="CDD:350784"
     Region          216..219
                     /region_name="DEAH box"
                     /note="propagated from UniProtKB/Swiss-Prot (O75417.2)"
     Region          847..894
                     /region_name="Interaction with RAD51.
                     /evidence=ECO:0000269|PubMed:25642963"
                     /note="propagated from UniProtKB/Swiss-Prot (O75417.2)"
     Site            990
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O75417.2)"
     Region          1034..1060
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75417.2)"
     Region          1594..1622
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75417.2)"
     Region          1777..1797
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75417.2)"
     Region          1900..2085
                     /region_name="DnaQ_like_exo"
                     /note="DnaQ-like (or DEDD) 3'-5' exonuclease domain
                     superfamily; cl10012"
                     /db_xref="CDD:447876"
     Region          2091..2585
                     /region_name="DNA_pol_A_theta"
                     /note="DNA polymerase theta is a low-fidelity family A
                     enzyme implicated in translesion synthesis and in somatic
                     hypermutation; cd08638"
                     /db_xref="CDD:176475"
     Region          2142..2177
                     /region_name="Loop 1.
                     /evidence=ECO:0000269|PubMed:21050863"
                     /note="propagated from UniProtKB/Swiss-Prot (O75417.2)"
     Site            order(2201,2205,2208..2209,2237..2239,2241,2243..2246,
                     2330..2331,2359,2379,2383,2467,2474,2538..2540)
                     /site_type="active"
                     /db_xref="CDD:176475"
     Site            order(2201,2205,2208..2209,2237..2239,2241,2243..2246,
                     2391,2466..2467,2470,2474,2538..2540)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:176475"
     Region          2257..2322
                     /region_name="Loop 2.
                     /evidence=ECO:0000269|PubMed:21050863,
                     ECO:0000269|PubMed:25643323"
                     /note="propagated from UniProtKB/Swiss-Prot (O75417.2)"
     Site            order(2330..2331,2333,2359,2379,2383,2540)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:176475"
     Region          2491..2535
                     /region_name="Loop 3.
                     /evidence=ECO:0000269|PubMed:21050863"
                     /note="propagated from UniProtKB/Swiss-Prot (O75417.2)"
     CDS             1..2590
                     /gene="POLQ"
                     /gene_synonym="PRO0327"
                     /coded_by="NM_199420.4:112..7884"
                     /db_xref="CCDS:CCDS33833.1"
                     /db_xref="GeneID:10721"
                     /db_xref="HGNC:HGNC:9186"
                     /db_xref="MIM:604419"
ORIGIN      
        1 mnllrrsgkr rrsesgsdsf sgsggdssas pqflsgsvls pppglgrclk aaaageckpt
       61 vpdyerdkll lanwglpkav lekyhsfgvk kmfewqaecl llgqvlegkn lvysaptsag
      121 ktlvaellil krvlemrkka lfilpfvsva kekkyylqsl fqevgikvdg ymgstspsrh
      181 fssldiavct ieranglinr lieenkmdll gmvvvdelhm lgdshrgyll ellltkicyi
      241 trksascqad lasslsnavq ivgmsatlpn lelvaswlna elyhtdfrpv pllesvkvgn
      301 siydssmklv refepmlqvk gdedhvvslc yeticdnhsv llfcpskkwc ekladiiare
      361 fynlhhqaeg lvkpsecppv ileqkellev mdqlrrlpsg ldsvlqktvp wgvafhhagl
      421 tfeerdiieg afrqglirvl aatstlssgv nlparrviir tpifggrpld iltykqmvgr
      481 agrkgvdtvg esilicknse kskgiallqg slkpvrsclq rregeevtgs miraileiiv
      541 ggvastsqdm htyaactfla asmkegkqgi qrnqesvqlg aieacvmwll enefiqstea
      601 sdgtegkvyh pthlgsatls sslspadtld ifadlqramk gfvlendlhi lylvtpmfed
      661 wttidwyrff clweklptsm krvaelvgve egflarcvkg kvvarterqh rqmaihkrff
      721 tslvlldlis evplreinqk ygcnrgqiqs lqqsaavyag mitvfsnrlg whnmelllsq
      781 fqkrltfgiq relcdlvrvs llnaqrarvl yasgfhtvad laraniveve vilknavpfk
      841 sarkavdeee eaveerrnmr tiwvtgrkgl tereaaaliv eearmilqqd lvemgvqwnp
      901 callhsstcs lthsesevke htfisqtkss ykkltsknks ntifsdsyik hspnivqdln
      961 ksrehtssfn cnfqngnqeh qtcsifrark rasldinkek pgasqnegkt sdkkvvqtfs
     1021 qktkkaplnf nsekmsrsfr swkrrkhlkr srdssplkds gacrihlqgq tlsnpslced
     1081 pftldekkte frnsgpfakn vslsgkekdn ktsfplqikq ncswnitltn dnfvehivtg
     1141 sqsknvtcqa tsvvsekgrg vaveaekine vliqngsknq nvymkhhdih pinqylrkqs
     1201 heqtstitkq kniierqmpc eavssyinrd snvtinceri klnteenkps hfqalgddis
     1261 rtvipsevlp sagafskseg qhenflnisr lqektgtytt nktknnhvsd lglvlcdfed
     1321 sfyldtqsek iiqqmatena klgakdtnla agimqkslvq qnsmnsfqke chipfpaeqh
     1381 plgatkidhl dlktvgtmkq ssdshgvdil tpespifhsp illeenglfl kknevsvtds
     1441 qlnsflqgyq tqetvkpvil lipqkrtptg vegeclpvpe tslnmsdsll fdsfsddylv
     1501 keqlpdmqmk eplpsevtsn hfsdslclqe dlikksnvne nqdthqqltc sndesiifse
     1561 mdsvqmveal dnvdifpvqe knhtvvspra lelsdpvlde hhqgdqdggd qderaekskl
     1621 tgtrqnhsfi wsgasfdlsp glqrildkvs spleneklks mtinfsslnr kntelneeqe
     1681 visnletkqv qgisfssnne vkskiemlen nanhdetssl lprkesnivd dnglipptpi
     1741 ptsaskltfp giletpvnpw ktnnvlqpge sylfgspsdi knhdlspgsr ngfkdnspis
     1801 dtsfslqlsq dglqltpass sseslsiidv asdqnlfqtf ikewrckkrf sislacekir
     1861 sltssktati gsrfkqassp qeipirddgf pikgcddtlv vglavcwggr dayyfslqke
     1921 qkhseisasl vppsldpslt lkdrmwylqs clrkesdkec svviydfiqs ykilllscgi
     1981 sleqsyedpk vacwlldpds qeptlhsivt sflphelpll egmetsqgiq slglnagseh
     2041 sgryrasves ilifnsmnql nsllqkenlq dvfrkvemps qyclalleln gigfstaece
     2101 sqkhimqakl daietqayql aghsfsftss ddiaevlfle lklppnremk nqgskktlgs
     2161 trrgidngrk lrlgrqfsts kdvlnklkal hplpglilew rritnaitkv vfplqrekcl
     2221 npflgmeriy pvsqshtatg ritftepniq nvprdfeikm ptlvgespps qavgkgllpm
     2281 grgkykkgfs vnprcqaqme eraadrgmpf sismrhafvp fpggsilaad ysqlelrila
     2341 hlshdrrliq vlntgadvfr siaaewkmie pesvgddlrq qakqicygii ygmgakslge
     2401 qmgikendaa cyidsfksry tginqfmtet vknckrdgfv qtilgrrryl pgikdnnpyr
     2461 kahaerqain tivqgsaadi vkiatvniqk qletfhstfk shghregmlq sdqtglsrkr
     2521 klqgmfcpir ggffilqlhd ellyevaeed vvqvaqivkn emesavklsv klkvkvkiga
     2581 swgelkdfdv
//
LOCUS       NP_001352977             332 aa            linear   PRI 24-DEC-2022
DEFINITION  protein ABHD18 isoform 15 [Homo sapiens].
ACCESSION   NP_001352977
VERSION     NP_001352977.1
DBSOURCE    REFSEQ: accession NM_001366048.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 332)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL,
            Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P,
            Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy
            SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH,
            Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW,
            Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J,
            Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M,
            Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW,
            Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J,
            Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U,
            Smailus DE, Schnerch A, Schein JE, Jones SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC099340.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC128143.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..332
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q28.2"
     Protein         1..332
                     /product="protein ABHD18 isoform 15"
                     /note="abhydrolase domain-containing protein 18;
                     alpha/beta hydrolase domain-containing protein 18; protein
                     ABHD18"
                     /calculated_mol_wt=37133
     Region          <11..332
                     /region_name="Abhydrolase"
                     /note="alpha/beta hydrolases; cl21494"
                     /db_xref="CDD:451272"
     CDS             1..332
                     /gene="ABHD18"
                     /gene_synonym="C4orf29"
                     /coded_by="NM_001366048.1:409..1407"
                     /note="isoform 15 is encoded by transcript variant 19"
                     /db_xref="GeneID:80167"
                     /db_xref="HGNC:HGNC:26111"
ORIGIN      
        1 mldtnlillp lfqfivpkew nskyrpvcih lagtgdhhyw rrrtlmarpm ikearmasll
       61 lenpyygcrk pkdqvrsslk nvsdlfvmgg alvlesaall hwleregygp lgmtgismgg
      121 hmaslavsnw pkpmplipcl swstasgvft ttdsfkmgqe fvkhftssad kltnlnlvsr
      181 tlnldisnqv vsqkpadchn ssktsvsats eglllqdtsk mkrfnqtlst nksgytsrnp
      241 qsyhllskeq srnslrkesl ifmkgvmdec thvanfsvpv dpsliivvqa kedayiprtg
      301 vrslqeiwpg ceiryleggh isaylfkqgl fr
//
LOCUS       NP_150601                240 aa            linear   PRI 24-DEC-2022
DEFINITION  tumor protein p53-inducible nuclear protein 1 isoform a [Homo
            sapiens].
ACCESSION   NP_150601
VERSION     NP_150601.1
DBSOURCE    REFSEQ: accession NM_033285.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 240)
  AUTHORS   Luo X, Xu Y, Zhong Z, Xiang P, Wu X and Chong A.
  TITLE     miR-8485 alleviates the injury of cardiomyocytes through TP53INP1
  JOURNAL   J Biochem Mol Toxicol 36 (10), e23159 (2022)
   PUBMED   35876212
  REMARK    GeneRIF: miR-8485 alleviates the injury of cardiomyocytes through
            TP53INP1.
REFERENCE   2  (residues 1 to 240)
  AUTHORS   Liu T, Liao S, Mo J, Bai X, Li Y, Zhang Y, Zhang D, Cheng R, Zhao
            N, Che N, Guo Y, Dong X and Zhao X.
  TITLE     LncRNA n339260 functions in hepatocellular carcinoma progression
            via regulation of miRNA30e-5p/TP53INP1 expression
  JOURNAL   J Gastroenterol 57 (10), 784-797 (2022)
   PUBMED   35802258
  REMARK    GeneRIF: LncRNA n339260 functions in hepatocellular carcinoma
            progression via regulation of miRNA30e-5p/TP53INP1 expression.
REFERENCE   3  (residues 1 to 240)
  AUTHORS   Liu Y, Zhao X, Li J, Zhou L, Chang W, Li J, Hou R, Li J, Yin G, Li
            X and Zhang K.
  TITLE     MiR-155 inhibits TP53INP1 expression leading to enhanced glycolysis
            of psoriatic mesenchymal stem cells
  JOURNAL   J Dermatol Sci 105 (3), 142-151 (2022)
   PUBMED   35164998
  REMARK    GeneRIF: MiR-155 inhibits TP53INP1 expression leading to enhanced
            glycolysis of psoriatic mesenchymal stem cells.
REFERENCE   4  (residues 1 to 240)
  AUTHORS   Han L, Huang Z, Liu Y, Ye L, Li D, Yao Z, Wang C, Zhang Y, Yang H,
            Tan Z, Tang J and Yang Z.
  TITLE     MicroRNA-106a regulates autophagy-related cell death and EMT by
            targeting TP53INP1 in lung cancer with bone metastasis
  JOURNAL   Cell Death Dis 12 (11), 1037 (2021)
   PUBMED   34718338
  REMARK    GeneRIF: MicroRNA-106a regulates autophagy-related cell death and
            EMT by targeting TP53INP1 in lung cancer with bone metastasis.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 240)
  AUTHORS   Li C, Liu Z, Wu G, Zang Z, Zhang JQ, Li X, Tao J, Shen M and Liu H.
  TITLE     FOXO1 mediates hypoxia-induced G0/G1 arrest in ovarian somatic
            granulosa cells by activating the TP53INP1-p53-CDKN1A pathway
  JOURNAL   Development 148 (14) (2021)
   PUBMED   34152408
  REMARK    GeneRIF: FOXO1 mediates hypoxia-induced G0/G1 arrest in ovarian
            somatic granulosa cells by activating the TP53INP1-p53-CDKN1A
            pathway.
REFERENCE   6  (residues 1 to 240)
  AUTHORS   Tomasini R, Seux M, Nowak J, Bontemps C, Carrier A, Dagorn JC,
            Pebusque MJ, Iovanna JL and Dusetti NJ.
  TITLE     TP53INP1 is a novel p73 target gene that induces cell cycle arrest
            and cell death by modulating p73 transcriptional activity
  JOURNAL   Oncogene 24 (55), 8093-8104 (2005)
   PUBMED   16044147
  REMARK    GeneRIF: TP53INP1s are functionally associated with p73 to regulate
            cell cycle progression and apoptosis.
REFERENCE   7  (residues 1 to 240)
  AUTHORS   Tomasini R, Samir AA, Carrier A, Isnardon D, Cecchinelli B, Soddu
            S, Malissen B, Dagorn JC, Iovanna JL and Dusetti NJ.
  TITLE     TP53INP1s and homeodomain-interacting protein kinase-2 (HIPK2) are
            partners in regulating p53 activity
  JOURNAL   J Biol Chem 278 (39), 37722-37729 (2003)
   PUBMED   12851404
  REMARK    GeneRIF: TP53INP1s and HIPK2 could be partners in regulating p53
            activity.
REFERENCE   8  (residues 1 to 240)
  AUTHORS   Tomasini R, Samir AA, Pebusque MJ, Calvo EL, Totaro S, Dagorn JC,
            Dusetti NJ and Iovanna JL.
  TITLE     P53-dependent expression of the stress-induced protein (SIP)
  JOURNAL   Eur J Cell Biol 81 (5), 294-301 (2002)
   PUBMED   12067065
  REMARK    GeneRIF: Data show that induction of the stress-induced proteins
            (SIPs) SIP18 and SIP27, in human- and mouse-derived cell lines, is
            absent from cells with deleted, mutated or inactive p53, suggesting
            that regulation of SIP gene expression is dependent on p53.
REFERENCE   9  (residues 1 to 240)
  AUTHORS   Nowak J, Tomasini R, Mattei MG, Azizi Samir LA, Dagorn JC, Dusetti
            N, Iovanna JL and Pebusque MJ.
  TITLE     Assignment of tumor protein p53 induced nuclear protein 1
            (TP53INP1) gene to human chromosome band 8q22 by in situ
            hybridization
  JOURNAL   Cytogenet Genome Res 97 (1-2), 140E (2002)
   PUBMED   12438758
  REMARK    GeneRIF: Assignment of tumor protein p53 induced nuclear protein 1
            (TP53INP1) gene to human chromosome band 8q22 by in situ
            hybridization.
REFERENCE   10 (residues 1 to 240)
  AUTHORS   Okamura S, Arakawa H, Tanaka T, Nakanishi H, Ng CC, Taya Y, Monden
            M and Nakamura Y.
  TITLE     p53DINP1, a p53-inducible gene, regulates p53-dependent apoptosis
  JOURNAL   Mol Cell 8 (1), 85-94 (2001)
   PUBMED   11511362
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB086880.1, AF409115.1 and AB017926.1.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853566.26768.1, AF409115.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000342697.5/ ENSP00000344215.4
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.1"
     Protein         1..240
                     /product="tumor protein p53-inducible nuclear protein 1
                     isoform a"
                     /note="p53-inducible p53DINP1; stress-induced protein;
                     p53-dependent damage-inducible nuclear protein 1"
                     /calculated_mol_wt=27235
     Region          25..236
                     /region_name="DOR"
                     /note="DOR family; pfam14839"
                     /db_xref="CDD:434256"
     Region          25..37
                     /region_name="LIR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A56.1)"
     CDS             1..240
                     /gene="TP53INP1"
                     /gene_synonym="p53DINP1; SIP; Teap; TP53DINP1; TP53INP1A;
                     TP53INP1B"
                     /coded_by="NM_033285.4:376..1098"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS6265.1"
                     /db_xref="GeneID:94241"
                     /db_xref="HGNC:HGNC:18022"
                     /db_xref="MIM:606185"
ORIGIN      
        1 mfqrlnkmfv gevssssnqe pefnekedde wilvdfidtc tgfsaeeeee eediseespt
       61 ehpsvfsclp aslecladts dscflqfesc pmeeswfitp ppcftagglt tikvetspme
      121 nlliehpsms vyavhnscpg lseatrgtde lhspssprve aqnemgqhih cyvaalaaht
      181 tfleqpksfr psqwikehse rqplnrnslr rqnltrdchp rqvkhngwvv hqpcprqyny
//
LOCUS       NP_055608                686 aa            linear   PRI 25-DEC-2022
DEFINITION  tRNA wybutosine-synthesizing protein 4 [Homo sapiens].
ACCESSION   NP_055608
VERSION     NP_055608.2
DBSOURCE    REFSEQ: accession NM_014793.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 686)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   2  (residues 1 to 686)
  AUTHORS   Jeon BN, Kim MK, Choi WI, Koh DI, Hong SY, Kim KS, Kim M, Yun CO,
            Yoon J, Choi KY, Lee KR, Nephew KP and Hur MW.
  TITLE     KR-POK interacts with p53 and represses its ability to activate
            transcription of p21WAF1/CDKN1A
  JOURNAL   Cancer Res 72 (5), 1137-1148 (2012)
   PUBMED   22253232
  REMARK    GeneRIF: Kr-pok interacted directly with the DNA binding and
            oligomerization domains of p53. This interaction was essential for
            Kr-pok to bind the distal promoter region of the CDKN1A gene,
            p21WAF1, and to inhibit p53-mediated transcriptional activation of
            CDKN1A.
REFERENCE   3  (residues 1 to 686)
  AUTHORS   Suzuki Y, Noma A, Suzuki T, Ishitani R and Nureki O.
  TITLE     Structural basis of tRNA modification with CO2 fixation and
            methylation by wybutosine synthesizing enzyme TYW4
  JOURNAL   Nucleic Acids Res 37 (9), 2910-2925 (2009)
   PUBMED   19287006
  REMARK    GeneRIF: This paper reports crystal structures of a yeast homolog,
            TYW4.
REFERENCE   4  (residues 1 to 686)
  AUTHORS   Dennis JH, Fan HY, Reynolds SM, Yuan G, Meldrim JC, Richter DJ,
            Peterson DG, Rando OJ, Noble WS and Kingston RE.
  TITLE     Independent and complementary methods for large-scale structural
            analysis of mammalian chromatin
  JOURNAL   Genome Res 17 (6), 928-939 (2007)
   PUBMED   17568008
REFERENCE   5  (residues 1 to 686)
  AUTHORS   Noma A, Kirino Y, Ikeuchi Y and Suzuki T.
  TITLE     Biosynthesis of wybutosine, a hyper-modified nucleoside in
            eukaryotic phenylalanine tRNA
  JOURNAL   EMBO J 25 (10), 2142-2154 (2006)
   PUBMED   16642040
REFERENCE   6  (residues 1 to 686)
  AUTHORS   De Baere I, Derua R, Janssens V, Van Hoof C, Waelkens E, Merlevede
            W and Goris J.
  TITLE     Purification of porcine brain protein phosphatase 2A leucine
            carboxyl methyltransferase and cloning of the human homologue
  JOURNAL   Biochemistry 38 (50), 16539-16547 (1999)
   PUBMED   10600115
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC015949.2 and AC009852.9.
            On Nov 23, 2002 this sequence version replaced NP_055608.1.
            
            Summary: The protein encoded by this intronless gene belongs to the
            highly variable methyltransferase superfamily. This gene is the
            inferred homolog of the Saccharomyces cerevisiae
            carboxymethyltransferase gene PPM2 that is essential for the
            synthesis of the hypermodified guanosine Wybutosine (yW). [provided
            by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript is intronless :: SRR1803613.31183.1, SRR1803616.44518.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305641.7/ ENSP00000307214.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..686
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.3"
     Protein         1..686
                     /product="tRNA wybutosine-synthesizing protein 4"
                     /EC_number="2.1.1.290"
                     /EC_number="2.3.1.231"
                     /note="tRNA-Wybutosine-synthesizing protein 4;
                     p21WAF1/CIP1 promoter-interacting protein; tRNA(Phe)
                     (7-(3-amino-3-carboxypropyl)wyosine(37)-O)-
                     methyltransferase; tRNA(Phe)
                     (7-(3-amino-3-(methoxycarbonyl)propyl)wyosine(37)-N)-
                     methoxycarbonyltransferase; tRNA-yW synthesizing protein
                     4"
                     /calculated_mol_wt=75471
     Region          1..21
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60294.3)"
     Region          28..197
                     /region_name="AdoMet_MTases"
                     /note="S-adenosylmethionine-dependent methyltransferases
                     (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes
                     that use S-adenosyl-L-methionine (SAM or AdoMet) as a
                     substrate for methyltransfer, creating the product
                     S-adenosyl-L-homocysteine (AdoHcy); cl17173"
                     /db_xref="CDD:450167"
     CDS             1..686
                     /gene="LCMT2"
                     /gene_synonym="PPM2; TYW4"
                     /coded_by="NM_014793.5:85..2145"
                     /db_xref="CCDS:CCDS10094.1"
                     /db_xref="GeneID:9836"
                     /db_xref="HGNC:HGNC:17558"
                     /db_xref="MIM:611246"
ORIGIN      
        1 mgprsrerra gavqntndss alskrslaar gyvqdpfaal lvpgaarrap lihrgyyvra
       61 ravrhcvraf leqigapqaa lraqilslga gfdslyfrlk tagrlaraav wevdfpdvar
      121 rkaerigetp elcaltgpfe rgepasalcf esadycilgl dlrqlqrvee algaagldaa
      181 sptlllaeav ltylepesaa aliawaaqrf pnalfvvyeq mrpqdafgqf mlqhfrqlns
      241 plhglerfpd veaqrrrflq agwtacgavd mnefyhcflp aeerrrveni epfdefeewh
      301 lkcahyfila asrgdtlsht lvfpsseafp rvnpaspsgv fpasvvsseg qvpnlkrygh
      361 asvflspdvi lsaggfgeqe grhcrvsqfh llsrdcdsew kgsqigscgt gvqwdgrlyh
      421 tmtrlsesrv lvlggrlspv spalgvlqlh ffksednnte dlkvtitkag rkddstlccw
      481 rhsttevscq nqeylfvygg rsvvepvlsd whflhvgtma wvripvegev pearhshsac
      541 twqggaliag glgaseepln svlflrpisc gflwesvdiq ppitprysht ahvlngklll
      601 vggiwihsss fpgvtvinlt tglsseyqid ttyvpwplml hnhtsillpe eqqllllggg
      661 gncfsfgtyf nphtvtldls slsagq
//
LOCUS       NP_004857                338 aa            linear   PRI 25-DEC-2022
DEFINITION  secretory carrier-associated membrane protein 1 isoform 1 [Homo
            sapiens].
ACCESSION   NP_004857
VERSION     NP_004857.4
DBSOURCE    REFSEQ: accession NM_004866.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 338)
  AUTHORS   Yousaf T, Sun Y, Naz W, Liu Y, Xu J, Yuan S, Wu K, Wang M, Wang J,
            Guo M and Sun G.
  TITLE     Multiomics Analysis of Endocytosis upon HBV Infection and
            Identification of SCAMP1 as a Novel Host Restriction Factor against
            HBV Replication
  JOURNAL   Int J Mol Sci 23 (4), 2211 (2022)
   PUBMED   35216324
  REMARK    GeneRIF: Multiomics Analysis of Endocytosis upon HBV Infection and
            Identification of SCAMP1 as a Novel Host Restriction Factor against
            HBV Replication.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 338)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 338)
  AUTHORS   Qian T, Cheng Z, Quan L, Zeng T, Cui L, Liu Y, Si C, Huang W, Dai
            Y, Chen J, Liu L, Jiao Y, Deng C, Pang Y, Ye X, Shi J and Fu L.
  TITLE     Prognostic role of SCAMP family in acute myeloid leukemia
  JOURNAL   Pharmacogenomics J 20 (4), 595-600 (2020)
   PUBMED   31988488
  REMARK    GeneRIF: Prognostic role of SCAMP family in acute myeloid leukemia.
REFERENCE   4  (residues 1 to 338)
  AUTHORS   Song R, Liu Z, Lu L, Liu F and Zhang B.
  TITLE     Long Noncoding RNA SCAMP1 Targets miR-137/CXCL12 Axis to Boost Cell
            Invasion and Angiogenesis in Ovarian Cancer
  JOURNAL   DNA Cell Biol 39 (6), 1041-1050 (2020)
   PUBMED   32401536
  REMARK    GeneRIF: Long Noncoding RNA SCAMP1 Targets miR-137/CXCL12 Axis to
            Boost Cell Invasion and Angiogenesis in Ovarian Cancer
REFERENCE   5  (residues 1 to 338)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (residues 1 to 338)
  AUTHORS   Fernandez-Chacon R, Achiriloaie M, Janz R, Albanesi JP and Sudhof
            TC.
  TITLE     SCAMP1 function in endocytosis
  JOURNAL   J Biol Chem 275 (17), 12752-12756 (2000)
   PUBMED   10777571
REFERENCE   7  (residues 1 to 338)
  AUTHORS   Wu TT and Castle JD.
  TITLE     Tyrosine phosphorylation of selected secretory carrier membrane
            proteins, SCAMP1 and SCAMP3, and association with the EGF receptor
  JOURNAL   Mol Biol Cell 9 (7), 1661-1674 (1998)
   PUBMED   9658162
REFERENCE   8  (residues 1 to 338)
  AUTHORS   Singleton DR, Wu TT and Castle JD.
  TITLE     Three mammalian SCAMPs (secretory carrier membrane proteins) are
            highly related products of distinct genes having similar
            subcellular distributions
  JOURNAL   J Cell Sci 110 (Pt 17), 2099-2107 (1997)
   PUBMED   9378760
REFERENCE   9  (residues 1 to 338)
  AUTHORS   Wu TT and Castle JD.
  TITLE     Evidence for colocalization and interaction between 37 and 39 kDa
            isoforms of secretory carrier membrane proteins (SCAMPs)
  JOURNAL   J Cell Sci 110 (Pt 13), 1533-1541 (1997)
   PUBMED   9224770
REFERENCE   10 (residues 1 to 338)
  AUTHORS   Brand SH and Castle JD.
  TITLE     SCAMP 37, a new marker within the general cell surface recycling
            system
  JOURNAL   EMBO J 12 (10), 3753-3761 (1993)
   PUBMED   8404846
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB213762.1, CR542286.1,
            BC034048.1, AK001417.1, AL049223.1 and AW590077.1.
            On Oct 17, 2006 this sequence version replaced NP_004857.3.
            
            Summary: This gene product belongs to the SCAMP family of proteins,
            which are secretory carrier membrane proteins. They function as
            carriers to the cell surface in post-golgi recycling pathways.
            Different family members are highly related products of distinct
            genes, and are usually expressed together. These findings suggest
            that these protein family members may function at the same site
            during vesicular transport rather than in separate pathways. A
            pseudogene of this gene has been defined on chromosome 1.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.253417.1,
                                           SRR1660807.129470.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000621999.5/ ENSP00000481022.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..338
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     Protein         1..338
                     /product="secretory carrier-associated membrane protein 1
                     isoform 1"
                     /note="secretory carrier-associated membrane protein 1"
                     /calculated_mol_wt=37789
     Region          1..64
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15126.2)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (O15126.2)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P56603; propagated from
                     UniProtKB/Swiss-Prot (O15126.2)"
     Site            45
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O15126.2)"
     Region          117..292
                     /region_name="SCAMP"
                     /note="SCAMP family; pfam04144"
                     /db_xref="CDD:427742"
     Site            156..176
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O15126.2)"
     Site            182..202
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O15126.2)"
     Site            219..239
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O15126.2)"
     Site            262..282
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O15126.2)"
     CDS             1..338
                     /gene="SCAMP1"
                     /gene_synonym="SCAMP; SCAMP37"
                     /coded_by="NM_004866.6:56..1072"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS75264.1"
                     /db_xref="GeneID:9522"
                     /db_xref="HGNC:HGNC:10563"
                     /db_xref="MIM:606911"
ORIGIN      
        1 msdfdsnpfa dpdlnnpfkd psvtqvtrnv ppgldeynpf sdsrtpppgg vkmpnvpntq
       61 paimkpteeh paytqiakeh alaqaellkr qeelerkaae ldrreremqn lsqhgrknnw
      121 pplpsnfpvg pcfyqdfsvd ipvefqktvk lmyylwmfha vtlflnifgc lawfcvdsar
      181 avdfglsilw fllftpcsfv cwyrplygaf rsdssfrffv fffvyicqfa vhvlqaagfh
      241 nwgncgwiss ltglnqnipv gimmiiiaal ftasavislv mfkkvhglyr ttgasfekaq
      301 qefatgvmsn ktvqtaaana astaassaaq nafkgnqi
//
LOCUS       NP_620124                618 aa            linear   PRI 25-DEC-2022
DEFINITION  mitochondrial Rho GTPase 2 isoform 2 [Homo sapiens].
ACCESSION   NP_620124
VERSION     NP_620124.1
DBSOURCE    REFSEQ: accession NM_138769.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 618)
  AUTHORS   Furnish M, Boulton DP, Genther V, Grofova D, Ellinwood ML, Romero
            L, Lucia MS, Cramer SD and Caino MC.
  TITLE     MIRO2 Regulates Prostate Cancer Cell Growth via GCN1-Dependent
            Stress Signaling
  JOURNAL   Mol Cancer Res 20 (4), 607-621 (2022)
   PUBMED   34992146
  REMARK    GeneRIF: MIRO2 Regulates Prostate Cancer Cell Growth via
            GCN1-Dependent Stress Signaling.
REFERENCE   2  (residues 1 to 618)
  AUTHORS   Perinan MT, Gomez-Garre P, Blauwendraat C, Mir P and Bandres-Ciga
            S.
  CONSRTM   International Parkinson's Disease Genomics Consortium (IPDGC)
  TITLE     The role of RHOT1 and RHOT2 genetic variation on Parkinson disease
            risk and onset
  JOURNAL   Neurobiol Aging 97, 144 (2021)
   PUBMED   32948353
  REMARK    GeneRIF: The role of RHOT1 and RHOT2 genetic variation on Parkinson
            disease risk and onset.
REFERENCE   3  (residues 1 to 618)
  AUTHORS   Smith KP, Focia PJ, Chakravarthy S, Landahl EC, Klosowiak JL, Rice
            SE and Freymann DM.
  TITLE     Insight into human Miro1/2 domain organization based on the
            structure of its N-terminal GTPase
  JOURNAL   J Struct Biol 212 (3), 107656 (2020)
   PUBMED   33132189
  REMARK    GeneRIF: Insight into human Miro1/2 domain organization based on
            the structure of its N-terminal GTPase.
REFERENCE   4  (residues 1 to 618)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 618)
  AUTHORS   D'Aquila P, Montesanto A, De Rango F, Guarasci F, Passarino G and
            Bellizzi D.
  TITLE     Epigenetic signature: implications for mitochondrial quality
            control in human aging
  JOURNAL   Aging (Albany NY) 11 (4), 1240-1251 (2019)
   PUBMED   30787202
  REMARK    GeneRIF: This study showed that RAB32 and RHOT2 were associated
            with aging, and that individuals exhibiting methylation levels of
            the RAB32 CpG site higher than 10% were observed more prone to
            disability than people with lower levels.
REFERENCE   6  (residues 1 to 618)
  AUTHORS   Fransson S, Ruusala A and Aspenstrom P.
  TITLE     The atypical Rho GTPases Miro-1 and Miro-2 have essential roles in
            mitochondrial trafficking
  JOURNAL   Biochem Biophys Res Commun 344 (2), 500-510 (2006)
   PUBMED   16630562
  REMARK    GeneRIF: Moreover, we show that Miro interacts with the
            Kinesin-binding proteins, GRIF-1 and OIP106, suggesting that the
            Miro GTPases form a link between the mitochondria and the
            trafficking apparatus of the microtubules.
REFERENCE   7  (residues 1 to 618)
  AUTHORS   Aspenstrom P, Fransson A and Saras J.
  TITLE     Rho GTPases have diverse effects on the organization of the actin
            filament system
  JOURNAL   Biochem J 377 (Pt 2), 327-337 (2004)
   PUBMED   14521508
REFERENCE   8  (residues 1 to 618)
  AUTHORS   Shan Y, Hexige S, Guo Z, Wan B, Chen K, Chen X, Ma L, Huang C, Zhao
            S and Yu L.
  TITLE     Cloning and characterization of the mouse Arht2 gene which encodes
            a putative atypical GTPase
  JOURNAL   Cytogenet Genome Res 106 (1), 91-97 (2004)
   PUBMED   15218247
REFERENCE   9  (residues 1 to 618)
  AUTHORS   Fransson A, Ruusala A and Aspenstrom P.
  TITLE     Atypical Rho GTPases have roles in mitochondrial homeostasis and
            apoptosis
  JOURNAL   J Biol Chem 278 (8), 6495-6502 (2003)
   PUBMED   12482879
REFERENCE   10 (residues 1 to 618)
  AUTHORS   Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C,
            Kearney L, Buckle VJ, Doggett NA, Flint J and Higgs DR.
  TITLE     Sequence, structure and pathology of the fully annotated terminal 2
            Mb of the short arm of human chromosome 16
  JOURNAL   Hum Mol Genet 10 (4), 339-352 (2001)
   PUBMED   11157797
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB465261.1, AJ517413.1,
            AY207375.1 and AL834163.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the Rho family of GTPases.
            The encoded protein is localized to the outer mitochondrial
            membrane and plays a role in mitochondrial trafficking and
            fusion-fission dynamics. [provided by RefSeq, Nov 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC014942.1, SRR3476690.82902.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000315082.9/
                                                  ENSP00000321971.4
            RefSeq Select criteria             :: based on conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..618
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..618
                     /product="mitochondrial Rho GTPase 2 isoform 2"
                     /EC_number="3.6.5.-"
                     /note="mitochondrial Rho GTPase 2; ras homolog gene
                     family, member T2; mitochondrial Rho (MIRO) GTPase 2"
                     /calculated_mol_wt=67987
     Region          3..169
                     /region_name="Miro1"
                     /note="Mitochondrial Rho family 1 (Miro1), N-terminal;
                     cd01893"
                     /db_xref="CDD:206680"
     Site            order(6,35..36,38..39,41,43,52,56..57,59..61,68,71)
                     /site_type="other"
                     /note="putative GEF (guanine nucleotide exchange factor)
                     interaction site [polypeptide binding]"
                     /db_xref="CDD:206680"
     Site            11..18
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206680"
     Site            order(14..19,57..58,60,119,121,149..150)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206680"
     Site            34..40
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206680"
     Site            35
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206680"
     Site            order(36,59,68,70)
                     /site_type="active"
                     /note="putative GDI (guanine nucleotide dissociation
                     inhibitor) interaction [active]"
                     /db_xref="CDD:206680"
     Site            order(36..37,61,68)
                     /site_type="other"
                     /note="putative GAP (GTPase-activating protein)
                     interaction site [polypeptide binding]"
                     /db_xref="CDD:206680"
     Site            order(37..38,68,71)
                     /site_type="active"
                     /note="putative effector interaction site [active]"
                     /db_xref="CDD:206680"
     Site            57..60
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206680"
     Site            order(60..61,68..71,75..77)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206680"
     Site            118..121
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206680"
     Site            148..150
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206680"
     Region          220..303
                     /region_name="EF_assoc_2"
                     /note="EF hand associated; pfam08356"
                     /db_xref="CDD:429944"
     Region          341..408
                     /region_name="EF_assoc_1"
                     /note="EF hand associated; pfam08355"
                     /db_xref="CDD:429943"
     Region          413..589
                     /region_name="Miro2"
                     /note="Mitochondrial Rho family 2 (Miro2), C-terminal;
                     cd01892"
                     /db_xref="CDD:206679"
     Site            423..430
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206679"
     Site            order(426..431,470..471,473,525,527,556..557)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206679"
     Site            445..453
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206679"
     Site            446
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206679"
     Site            470..473
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206679"
     Site            order(472..483,486..488)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206679"
     Site            524..527
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206679"
     Site            555..557
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206679"
     Site            593..615
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXI1.2)"
     CDS             1..618
                     /gene="RHOT2"
                     /gene_synonym="ARHT2; C16orf39; MIRO-2; MIRO2; RASL"
                     /coded_by="NM_138769.3:69..1925"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS10417.1"
                     /db_xref="GeneID:89941"
                     /db_xref="HGNC:HGNC:21169"
                     /db_xref="MIM:613889"
ORIGIN      
        1 mrrdvrilll geaqvgktsl ilslvgeefp eevppraeei tipadvtpek vpthivdyse
       61 aeqtdeelre eihkanvvcv vydvseeati ekirtkwipl vnggttqgpr vpiilvgnks
      121 dlrsgssmea vlpimsqfpe ietcvecsak nlrniselfy yaqkavlhpt aplydpeakq
      181 lrpacaqalt rifrlsdqdl dqalsdeeln afqkscfghp lapqaledvk tvvcrnvagg
      241 vredrltldg flflntlfiq rgrhettwti lrrfgysdal eltadylspl ihvppgcste
      301 lnhlgyqfvq rvfekhdqdr dgalspvelq slfsvfpaap wgpelprtvr teagrlplhg
      361 ylcqwtlvty ldvrsclghl gylgyptlce qdqahaitvt rekrldqekg qtqrsvllck
      421 vvgargvgks aflqaflgrg lghqdtreqp pgyaidtvqv ngqekylilc evgtdgllat
      481 sldatcdvac lmfdgsdpks fahcasvykh hymdgqtpcl fvsskadlpe gvavsgpspa
      541 efcrkhrlpa pvpfscagpa epsttiftql atmaafphlv haelhpssfw lrgllgvvga
      601 avaavlsfsl yrvlvksq
//
LOCUS       NP_001310444             611 aa            linear   PRI 25-DEC-2022
DEFINITION  protein mono-ADP-ribosyltransferase PARP6 isoform 2 [Homo sapiens].
ACCESSION   NP_001310444
VERSION     NP_001310444.1
DBSOURCE    REFSEQ: accession NM_001323515.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 611)
  AUTHORS   Vermehren-Schmaedick A, Huang JY, Levinson M, Pomaville MB, Reed S,
            Bellus GA, Gilbert F, Keren B, Heron D, Haye D, Janello C, Makowski
            C, Danhauser K, Fedorov LM, Haack TB, Wright KM and Cohen MS.
  TITLE     Characterization of PARP6 Function in Knockout Mice and Patients
            with Developmental Delay
  JOURNAL   Cells 10 (6), 1289 (2021)
   PUBMED   34067418
  REMARK    GeneRIF: Characterization of PARP6 Function in Knockout Mice and
            Patients with Developmental Delay.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 611)
  AUTHORS   Wang H, Li S, Luo X, Song Z, Long X and Zhu X.
  TITLE     Knockdown of PARP6 or survivin promotes cell apoptosis and inhibits
            cell invasion of colorectal adenocarcinoma cells
  JOURNAL   Oncol Rep 37 (4), 2245-2251 (2017)
   PUBMED   28260087
  REMARK    GeneRIF: Results showed that both PARP6 and survivin exhibited
            higher expression in colorectal adenocarcinoma tissues and cell
            lines.  knockdown of either PARP6 or survivin promotes cell
            apoptosis and inhibits the cell invasion of colorectal
            adenocarcinoma cells suggesting a significant correlation between
            theses 2 proteins.
REFERENCE   3  (residues 1 to 611)
  AUTHORS   Qi G, Kudo Y, Tang B, Liu T, Jin S, Liu J, Zuo X, Mi S, Shao W, Ma
            X, Tsunematsu T, Ishimaru N, Zeng S, Tatsuka M and Shimamoto F.
  TITLE     PARP6 acts as a tumor suppressor via downregulating Survivin
            expression in colorectal cancer
  JOURNAL   Oncotarget 7 (14), 18812-18824 (2016)
   PUBMED   26934315
  REMARK    GeneRIF: PARP6 acts as a tumor suppressor via downregulating
            Survivin expression in CRC. PARP6 can be a novel diagnostic and
            therapeutic target together with Survivin for CRC.
REFERENCE   4  (residues 1 to 611)
  AUTHORS   Vyas S, Matic I, Uchima L, Rood J, Zaja R, Hay RT, Ahel I and Chang
            P.
  TITLE     Family-wide analysis of poly(ADP-ribose) polymerase activity
  JOURNAL   Nat Commun 5, 4426 (2014)
   PUBMED   25043379
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 611)
  AUTHORS   Tuncel H, Tanaka S, Oka S, Nakai S, Fukutomi R, Okamoto M, Ota T,
            Kaneko H, Tatsuka M and Shimamoto F.
  TITLE     PARP6, a mono(ADP-ribosyl) transferase and a negative regulator of
            cell proliferation, is involved in colorectal cancer development
  JOURNAL   Int J Oncol 41 (6), 2079-2086 (2012)
   PUBMED   23042038
  REMARK    GeneRIF: PARP6, a mono(ADP-ribosyl) transferase and a negative
            regulator of cell proliferation, is involved in colorectal cancer
            development, PARP6-positive colorectal cancer had a good prognosis.
REFERENCE   6  (residues 1 to 611)
  AUTHORS   Ame JC, Spenlehauer C and de Murcia G.
  TITLE     The PARP superfamily
  JOURNAL   Bioessays 26 (8), 882-893 (2004)
   PUBMED   15273990
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009690.17.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.212541.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..611
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q23"
     Protein         1..611
                     /product="protein mono-ADP-ribosyltransferase PARP6
                     isoform 2"
                     /EC_number="2.4.2.30"
                     /note="poly [ADP-ribose] polymerase 6; PARP-6;
                     ADP-ribosyltransferase diphtheria toxin-like 17; protein
                     mono-ADP-ribosyltransferase PARP6; MIEREN, class II"
                     /calculated_mol_wt=69106
     Region          225..338
                     /region_name="ADP_ribosyl"
                     /note="ADP_ribosylating enzymes catalyze the transfer of
                     ADP_ribose from NAD+ to substrates. Bacterial toxins are
                     cytoplasmic and catalyze the transfer of a single
                     ADP_ribose unit to eukaryotic elongation factor 2, halting
                     protein synthesis and killing the cell; cd01341"
                     /db_xref="CDD:238651"
     Region          451..575
                     /region_name="ADP_ribosyl"
                     /note="ADP_ribosylating enzymes catalyze the transfer of
                     ADP_ribose from NAD+ to substrates. Bacterial toxins are
                     cytoplasmic and catalyze the transfer of a single
                     ADP_ribose unit to eukaryotic elongation factor 2, halting
                     protein synthesis and killing the cell; cd01341"
                     /db_xref="CDD:238651"
     Site            order(453..457,460,464,468..470,472,488..490,500,561)
                     /site_type="other"
                     /note="nad+ binding pocket [chemical binding]"
                     /db_xref="CDD:238651"
     CDS             1..611
                     /gene="PARP6"
                     /gene_synonym="ARTD17; PARP-6-B1; PARP-6-C; pART17"
                     /coded_by="NM_001323515.2:439..2274"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:56965"
                     /db_xref="HGNC:HGNC:26921"
                     /db_xref="MIM:619439"
ORIGIN      
        1 mdikgqfwnd ddsegdnese eflygvqgsc aadlyrhpql dadieavkei ysensvsire
       61 ygtiddvdid lhinisflde evstawkvlr tepivlrlrf slsqyldgpe psievfqpsn
      121 kegfglglql kkilgmftsq qwkhlsndfl ktqqekrhsw fkasgtikkf raglsifspi
      181 pkspsfpiiq dsmlkgklgv pelrvgrlmn rsisctmknp kvevfgypps pqvsghckni
      241 ptleygflvq imkyaeqrip tlneycvvcd eqhvfqngsm lkpavctrel cvfsfytlgv
      301 msgaaeevat gaevvdllva mcraalespr ksiifepyps vvdptdpktl afnpkkknye
      361 rlqkaldsvm siremtqgsy leikkqmdkl dplahpllqw iissnrshiv klplsrqlkf
      421 mhtshqflll ssppakearf rtakklygst fafhgshien whsilrnglv nasytklqlh
      481 gaaygkgiyl spissisfgy sgmgkgqhrm pskdelvqry nrmntipqtr siqsrflqsr
      541 nlncialcev itskdlqkhg niwvcpvsdh vctrfffvye dgqvgdanin tqdpkiqkei
      601 mrvigtqvyt n
//
LOCUS       NP_003206                631 aa            linear   PRI 25-DEC-2022
DEFINITION  tyrosine-protein kinase Tec [Homo sapiens].
ACCESSION   NP_003206
VERSION     NP_003206.2
DBSOURCE    REFSEQ: accession NM_003215.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 631)
  AUTHORS   Yeung SF, Zhou Y, Zou W, Chan WL and Ching YP.
  TITLE     TEC kinase stabilizes PLK4 to promote liver cancer metastasis
  JOURNAL   Cancer Lett 524, 70-81 (2022)
   PUBMED   34637843
  REMARK    GeneRIF: TEC kinase stabilizes PLK4 to promote liver cancer
            metastasis.
REFERENCE   2  (residues 1 to 631)
  AUTHORS   Afifiyan N, Tillman B, French BA, Sweeny O, Masouminia M,
            Samadzadeh S and French SW.
  TITLE     The role of Tec kinase signaling pathways in the development of
            Mallory Denk Bodies in balloon cells in alcoholic hepatitis
  JOURNAL   Exp Mol Pathol 103 (2), 191-199 (2017)
   PUBMED   28935395
  REMARK    GeneRIF: High TEC expression is associated with the development of
            Mallory Denk Bodies in balloon cells in alcoholic hepatitis.
REFERENCE   3  (residues 1 to 631)
  AUTHORS   Vanova T, Konecna Z, Zbonakova Z, La Venuta G, Zoufalova K,
            Jelinkova S, Varecha M, Rotrekl V, Krejci P, Nickel W, Dvorak P and
            Kunova Bosakova M.
  TITLE     Tyrosine Kinase Expressed in Hepatocellular Carcinoma, TEC,
            Controls Pluripotency and Early Cell Fate Decisions of Human
            Pluripotent Stem Cells via Regulation of Fibroblast Growth Factor-2
            Secretion
  JOURNAL   Stem Cells 35 (9), 2050-2059 (2017)
   PUBMED   28631381
  REMARK    GeneRIF: TEC is yet another regulator of FGF2-mediated Human
            pluripotent stem cells pluripotency and differentiation.
REFERENCE   4  (residues 1 to 631)
  AUTHORS   La Venuta G, Wegehingel S, Sehr P, Muller HM, Dimou E, Steringer
            JP, Grotwinkel M, Hentze N, Mayer MP, Will DW, Uhrig U, Lewis JD
            and Nickel W.
  TITLE     Small Molecule Inhibitors Targeting Tec Kinase Block Unconventional
            Secretion of Fibroblast Growth Factor 2
  JOURNAL   J Biol Chem 291 (34), 17787-17803 (2016)
   PUBMED   27382052
  REMARK    GeneRIF: using RNA interference, the identified compounds
            corroborate the role of Tec kinase in unconventional secretion of
            FGF2.
REFERENCE   5  (residues 1 to 631)
  AUTHORS   Kleino I, Jarviluoma A, Hepojoki J, Huovila AP and Saksela K.
  TITLE     Preferred SH3 domain partners of ADAM metalloproteases include
            shared and ADAM-specific SH3 interactions
  JOURNAL   PLoS One 10 (3), e0121301 (2015)
   PUBMED   25825872
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 631)
  AUTHORS   Mano H, Yamashita Y, Miyazato A, Miura Y and Ozawa K.
  TITLE     Tec protein-tyrosine kinase is an effector molecule of Lyn
            protein-tyrosine kinase
  JOURNAL   FASEB J 10 (5), 637-642 (1996)
   PUBMED   8621063
REFERENCE   7  (residues 1 to 631)
  AUTHORS   Machide M, Mano H and Todokoro K.
  TITLE     Interleukin 3 and erythropoietin induce association of Vav with Tec
            kinase through Tec homology domain
  JOURNAL   Oncogene 11 (4), 619-625 (1995)
   PUBMED   7651724
REFERENCE   8  (residues 1 to 631)
  AUTHORS   Tang B, Mano H, Yi T and Ihle JN.
  TITLE     Tec kinase associates with c-kit and is tyrosine phosphorylated and
            activated following stem cell factor binding
  JOURNAL   Mol Cell Biol 14 (12), 8432-8437 (1994)
   PUBMED   7526158
REFERENCE   9  (residues 1 to 631)
  AUTHORS   Sato K, Mano H, Ariyama T, Inazawa J, Yazaki Y and Hirai H.
  TITLE     Molecular cloning and analysis of the human Tec protein-tyrosine
            kinase
  JOURNAL   Leukemia 8 (10), 1663-1672 (1994)
   PUBMED   7934162
REFERENCE   10 (residues 1 to 631)
  AUTHORS   Mano H, Ishikawa F, Nishida J, Hirai H and Takaku F.
  TITLE     A novel protein-tyrosine kinase, tec, is preferentially expressed
            in liver
  JOURNAL   Oncogene 5 (12), 1781-1786 (1990)
   PUBMED   2284097
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC098873.3, BC101713.1 and
            AC079118.5.
            On Mar 14, 2007 this sequence version replaced NP_003206.1.
            
            Summary: The protein encoded by this gene belongs to the Tec family
            of non-receptor protein-tyrosine kinases containing a pleckstrin
            homology domain. Tec family kinases are involved in the
            intracellular signaling mechanisms of cytokine receptors,
            lymphocyte surface antigens, heterotrimeric G-protein coupled
            receptors, and integrin molecules. They are also key players in the
            regulation of the immune functions. Tec kinase is an integral
            component of T cell signaling and has a distinct role in T cell
            activation. This gene may be associated with myelodysplastic
            syndrome. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC143487.1, SRR14038197.1982769.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381501.8/ ENSP00000370912.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..631
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p12-p11"
     Protein         1..631
                     /product="tyrosine-protein kinase Tec"
                     /EC_number="2.7.10.2"
                     /calculated_mol_wt=73450
     Region          7..148
                     /region_name="PH_Btk"
                     /note="Bruton's tyrosine kinase pleckstrin homology (PH)
                     domain; cd01238"
                     /db_xref="CDD:269944"
     Site            order(9..10,28..30,43,94)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:269944"
     Site            order(13,15..16,18..19,25,29,51)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:269944"
     Site            order(121,132..133,143)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:269944"
     Region          157..178
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P42680.2)"
     Region          182..237
                     /region_name="SH3_Tec"
                     /note="Src Homology 3 domain of Tec (Tyrosine kinase
                     expressed in hepatocellular carcinoma); cd11905"
                     /db_xref="CDD:212838"
     Site            order(188,190,193,197,215..216,230,232..233)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212838"
     Site            206
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:12573241,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P42680.2)"
     Site            228
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P42680.2)"
     Region          240..346
                     /region_name="SH2_Tec_Itk"
                     /note="Src homology 2 (SH2) domain found in Tec protein,
                     IL2-inducible T-cell kinase (Itk); cd10396"
                     /db_xref="CDD:198259"
     Site            order(254,273)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198259"
     Site            order(329,337..338)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198259"
     Region          365..624
                     /region_name="PTKc_Tec_Rlk"
                     /note="Catalytic domain of the Protein Tyrosine Kinases,
                     Tyrosine kinase expressed in hepatocellular carcinoma and
                     Resting lymphocyte kinase; cd05114"
                     /db_xref="CDD:270685"
     Site            order(376..377,384,396,398,417,440,442..446,448,489,493,
                     496,506..507,510,524..528,537,571)
                     /site_type="active"
                     /db_xref="CDD:270685"
     Site            order(376..377,384,396,398,417,440,442..446,448,493,496,
                     506..507,510)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270685"
     Site            order(489,493,524..528,537,571)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270685"
     Site            506..530
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270685"
     Site            519
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by autocatalysis, LYN and JAK2.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P42680.2)"
     CDS             1..631
                     /gene="TEC"
                     /gene_synonym="PSCTK4"
                     /coded_by="NM_003215.3:133..2028"
                     /db_xref="CCDS:CCDS3481.1"
                     /db_xref="GeneID:7006"
                     /db_xref="HGNC:HGNC:11719"
                     /db_xref="MIM:600583"
ORIGIN      
        1 mnfntileei likrsqqkkk tsplnykerl fvltksmlty yegraekkyr kgfidvskik
       61 cveivknddg vipcqnkypf qvvhdantly ifapspqsrd lwvkklkeei knnnnimiky
      121 hpkfwtdgsy qccrqtekla pgcekynlfe ssirkalppa petkkrrppp pipleeedns
      181 eeivvamydf qaaeghdlrl ergqeylile kndvhwwrar dkygnegyip snyvtgkksn
      241 nldqyewycr nmnrskaeql lrsedkeggf mvrdssqpgl ytvslytkfg gegssgfrhy
      301 hiketttspk kyylaekhaf gsipeiieyh khnaaglvtr lrypvsvkgk napttagfsy
      361 ekweinpsel tfmrelgsgl fgvvrlgkwr aqykvaikai regamceedf ieeakvmmkl
      421 thpklvqlyg vctqqkpiyi vtefmergcl lnflrqrqgh fsrdvllsmc qdvcegmeyl
      481 ernsfihrdl aarnclvsea gvvkvsdfgm aryvlddqyt sssgakfpvk wcppevfnys
      541 rfssksdvws fgvlmwevft egrmpfekyt nyevvtmvtr ghrlyqpkla snyvyevmlr
      601 cwqekpegrp sfedllrtid elveceetfg r
//
LOCUS       NP_005595                443 aa            linear   PRI 25-DEC-2022
DEFINITION  POU domain, class 3, transcription factor 2 [Homo sapiens].
ACCESSION   NP_005595
VERSION     NP_005595.2
DBSOURCE    REFSEQ: accession NM_005604.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 443)
  AUTHORS   Chen Z, Mai Q, Wang Q, Gou Q, Shi F, Mo Z, Cui W, Zhuang W, Li W,
            Xu R, Zhou Z, Chen X and Zhang J.
  TITLE     CircPOLR2A Promotes Proliferation and Impedes Apoptosis of
            Glioblastoma Multiforme Cells by Up-regulating POU3F2 to Facilitate
            SOX9 Transcription
  JOURNAL   Neuroscience 503, 118-130 (2022)
   PUBMED   35398178
  REMARK    GeneRIF: CircPOLR2A Promotes Proliferation and Impedes Apoptosis of
            Glioblastoma Multiforme Cells by Up-regulating POU3F2 to Facilitate
            SOX9 Transcription.
REFERENCE   2  (residues 1 to 443)
  AUTHORS   Fane ME, Chhabra Y, Spoerri L, Simmons JL, Ludwig R, Bonvin E,
            Goding CR, Sturm RA, Boyle GM, Haass NK, Piper M and Smith AG.
  TITLE     Reciprocal Regulation of BRN2 and NOTCH1/2 Signaling
            Synergistically Drives Melanoma Cell Migration and Invasion
  JOURNAL   J Invest Dermatol 142 (7), 1845-1857 (2022)
   PUBMED   34958806
  REMARK    GeneRIF: Reciprocal Regulation of BRN2 and NOTCH1/2 Signaling
            Synergistically Drives Melanoma Cell Migration and Invasion.
REFERENCE   3  (residues 1 to 443)
  AUTHORS   Hamm M, Sohier P, Petit V, Raymond JH, Delmas V, Le Coz M, Gesbert
            F, Kenny C, Aktary Z, Pouteaux M, Rambow F, Sarasin A, Charoenchon
            N, Bellacosa A, Sanchez-Del-Campo L, Mosteo L, Lauss M, Meijer D,
            Steingrimsson E, Jonsson GB, Cornell RA, Davidson I, Goding CR and
            Larue L.
  TITLE     BRN2 is a non-canonical melanoma tumor-suppressor
  JOURNAL   Nat Commun 12 (1), 3707 (2021)
   PUBMED   34140478
  REMARK    GeneRIF: BRN2 is a non-canonical melanoma tumor-suppressor.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 443)
  AUTHORS   Huang K, Wu Y, Shin J, Zheng Y, Siahpirani AF, Lin Y, Ni Z, Chen J,
            You J, Keles S, Wang D, Roy S and Lu Q.
  TITLE     Transcriptome-wide transmission disequilibrium analysis identifies
            novel risk genes for autism spectrum disorder
  JOURNAL   PLoS Genet 17 (2), e1009309 (2021)
   PUBMED   33539344
  REMARK    GeneRIF: Transcriptome-wide transmission disequilibrium analysis
            identifies novel risk genes for autism spectrum disorder.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 443)
  AUTHORS   Eisen T, Easty DJ, Bennett DC and Goding CR.
  TITLE     The POU domain transcription factor Brn-2: elevated expression in
            malignant melanoma and regulation of melanocyte-specific gene
            expression
  JOURNAL   Oncogene 11 (10), 2157-2164 (1995)
   PUBMED   7478537
REFERENCE   6  (residues 1 to 443)
  AUTHORS   Atanasoski S, Toldo SS, Malipiero U, Schreiber E, Fries R and
            Fontana A.
  TITLE     Isolation of the human genomic brain-2/N-Oct 3 gene (POUF3) and
            assignment to chromosome 6q16
  JOURNAL   Genomics 26 (2), 272-280 (1995)
   PUBMED   7601453
REFERENCE   7  (residues 1 to 443)
  AUTHORS   Schreiber E, Tobler A, Malipiero U, Schaffner W and Fontana A.
  TITLE     cDNA cloning of human N-Oct3, a nervous-system specific POU domain
            transcription factor binding to the octamer DNA motif
  JOURNAL   Nucleic Acids Res 21 (2), 253-258 (1993)
   PUBMED   8441633
REFERENCE   8  (residues 1 to 443)
  AUTHORS   Hara Y, Rovescalli AC, Kim Y and Nirenberg M.
  TITLE     Structure and evolution of four POU domain genes expressed in mouse
            brain
  JOURNAL   Proc Natl Acad Sci U S A 89 (8), 3280-3284 (1992)
   PUBMED   1565620
REFERENCE   9  (residues 1 to 443)
  AUTHORS   Schreiber E, Harshman K, Kemler I, Malipiero U, Schaffner W and
            Fontana A.
  TITLE     Astrocytes and glioblastoma cells express novel octamer-DNA binding
            proteins distinct from the ubiquitous Oct-1 and B cell type Oct-2
            proteins
  JOURNAL   Nucleic Acids Res 18 (18), 5495-5503 (1990)
   PUBMED   2216722
REFERENCE   10 (residues 1 to 443)
  AUTHORS   He X, Treacy MN, Simmons DM, Ingraham HA, Swanson LW and Rosenfeld
            MG.
  TITLE     Expression of a large family of POU-domain regulatory genes in
            mammalian brain development
  JOURNAL   Nature 340 (6228), 35-41 (1989)
   PUBMED   2739723
  REMARK    Erratum:[Nature 1989 Aug 24;340(6235):662]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL022395.2, DA491157.1 and
            BC051699.1.
            On Aug 31, 2004 this sequence version replaced NP_005595.1.
            
            Summary: This gene encodes a member of the POU-III class of neural
            transcription factors. The encoded protein is involved in neuronal
            differentiation and enhances the activation of
            corticotropin-releasing hormone regulated genes. Overexpression of
            this protein is associated with an increase in the proliferation of
            melanoma cells. [provided by RefSeq, Mar 2012].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC051699.1, Z11933.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328345.8/ ENSP00000329170.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..443
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q16.1"
     Protein         1..443
                     /product="POU domain, class 3, transcription factor 2"
                     /note="brain-2; octamer-binding protein 7; octamer-binding
                     transcription factor 7; brain-specific homeobox/POU domain
                     protein 2; nervous system-specific octamer-binding
                     transcription factor N-Oct-3"
                     /calculated_mol_wt=46762
     Region          64..171
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P20265.4)"
     Region          201..267
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P20265.4)"
     Region          262..336
                     /region_name="POU"
                     /note="Found in Pit-Oct-Unc transcription factors;
                     smart00352"
                     /db_xref="CDD:197673"
     Site            341
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P20265.4)"
     Site            order(355..359,361,378,384,397,399..400,403..404,406..408,
                     410..411)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          357..410
                     /region_name="Homeobox"
                     /note="Homeobox domain; pfam00046"
                     /db_xref="CDD:425441"
     Site            order(357,360,400,403..404,407)
                     /site_type="other"
                     /note="specific DNA base contacts [nucleotide binding]"
                     /db_xref="CDD:238039"
     Region          409..443
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P20265.4)"
     CDS             1..443
                     /gene="POU3F2"
                     /gene_synonym="brn-2; BRN2; N-Oct3; oct-7; OCT7; OTF-7;
                     OTF7; POUF3"
                     /coded_by="NM_005604.4:301..1632"
                     /db_xref="CCDS:CCDS5040.1"
                     /db_xref="GeneID:5454"
                     /db_xref="HGNC:HGNC:9215"
                     /db_xref="MIM:600494"
ORIGIN      
        1 mataasnhys lltssasivh aeppggmqqg aggyreaqsl vqgdygalqs nghplshahq
       61 witalshggg gggggggggg ggggggggdg spwstsplgq pdikpsvvvq qggrgdelhg
      121 pgalqqqhqq qqqqqqqqqq qqqqqqqqqr pphlvhhaan hhpgpgawrs aaaaahlpps
      181 mgasngglly sqpsftvngm lgaggqpagl hhhglrdahd ephhadhhph phshphqqpp
      241 pppppqgppg hpgahhdphs dedtptsddl eqfakqfkqr riklgftqad vglalgtlyg
      301 nvfsqtticr fealqlsfkn mcklkpllnk wleeadsssg sptsidkiaa qgrkrkkrts
      361 ievsvkgale shflkcpkps aqeitslads lqlekevvrv wfcnrrqkek rmtppggtlp
      421 gaedvyggsr dtpphhgvqt pvq
//
LOCUS       NP_543021                183 aa            linear   PRI 25-DEC-2022
DEFINITION  beta-defensin 129 precursor [Homo sapiens].
ACCESSION   NP_543021
VERSION     NP_543021.1
DBSOURCE    REFSEQ: accession NM_080831.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 183)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 183)
  AUTHORS   Kim JH, Cheong HS, Sul JH, Seo JM, Kim DY, Oh JT, Park KW, Kim HY,
            Jung SM, Jung K, Cho MJ, Bae JS and Shin HD.
  TITLE     A genome-wide association study identifies potential susceptibility
            loci for Hirschsprung disease
  JOURNAL   PLoS One 9 (10), e110292 (2014)
   PUBMED   25310821
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 183)
  AUTHORS   Kao CY, Chen Y, Zhao YH and Wu R.
  TITLE     ORFeome-based search of airway epithelial cell-specific novel human
            [beta]-defensin genes
  JOURNAL   Am J Respir Cell Mol Biol 29 (1), 71-80 (2003)
   PUBMED   12600824
REFERENCE   4  (residues 1 to 183)
  AUTHORS   Rodriguez-Jimenez FJ, Krause A, Schulz S, Forssmann WG,
            Conejo-Garcia JR, Schreeb R and Motzkus D.
  TITLE     Distribution of new human beta-defensin genes clustered on
            chromosome 20 in functionally different segments of epididymis
  JOURNAL   Genomics 81 (2), 175-183 (2003)
   PUBMED   12620395
  REMARK    GeneRIF: The protein encoded by this gene is thought to display
            antimicrobial activity.
REFERENCE   5  (residues 1 to 183)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
REFERENCE   6  (residues 1 to 183)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC070359.1, AF525931.1 and
            AI217663.1.
            
            Summary: Defensins are cysteine-rich cationic polypeptides that are
            important in the immunologic response to invading microorganisms.
            The antimicrobial protein encoded by this gene is secreted and is a
            member of the beta defensin protein family. Beta defensin genes are
            found in several clusters throughout the genome, with this gene
            mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.366842.1, GQ891507.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000246105.4/
                                                  ENSP00000246105.4
            Protein has antimicrobial activity :: PMID: 12620395
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..183
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     Protein         1..183
                     /product="beta-defensin 129 precursor"
                     /note="beta-defensin 129; beta-defensin 29; epididymis
                     secretory sperm binding protein"
                     /calculated_mol_wt=18059
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2258
     mat_peptide     20..183
                     /product="beta-defensin 129"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     12620395]"
                     /calculated_mol_wt=18059
     Region          26..54
                     /region_name="Defensin_beta_2"
                     /note="Beta defensin; pfam13841"
                     /db_xref="CDD:433520"
     Region          141..183
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1M3.1)"
     CDS             1..183
                     /gene="DEFB129"
                     /gene_synonym="bA530N10.3; C20orf87; DEFB-29; DEFB29;
                     hBD-29"
                     /coded_by="NM_080831.4:32..583"
                     /db_xref="CCDS:CCDS12992.1"
                     /db_xref="GeneID:140881"
                     /db_xref="HGNC:HGNC:16218"
ORIGIN      
        1 mkllfpifas lmlqyqvnte figlrrclmg lgrcrdhcnv dekeiqkckm kkccvgpkvv
       61 kliknylqyg tpnvlnedvq emlkpaknss aviqrkhils vlpqikstsf fantnfviip
      121 natpmnsati stmtpgqity tatstksntk esrdsatasp ppappppnil ptpsleleea
      181 eeq
//
LOCUS       NP_001307955             137 aa            linear   PRI 25-DEC-2022
DEFINITION  bolA-like protein 1 precursor [Homo sapiens].
ACCESSION   NP_001307955
VERSION     NP_001307955.1
DBSOURCE    REFSEQ: accession NM_001321026.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 137)
  AUTHORS   Sen S, Hendricks AL and Cowan JA.
  TITLE     Cluster exchange reactivity of [2Fe-2S]-bridged heterodimeric
            BOLA1-GLRX5
  JOURNAL   FEBS J 288 (3), 920-929 (2021)
   PUBMED   32542995
  REMARK    GeneRIF: Cluster exchange reactivity of [2Fe-2S]-bridged
            heterodimeric BOLA1-GLRX5.
REFERENCE   2  (residues 1 to 137)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 137)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 137)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (residues 1 to 137)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (residues 1 to 137)
  AUTHORS   Willems P, Wanschers BF, Esseling J, Szklarczyk R, Kudla U, Duarte
            I, Forkink M, Nooteboom M, Swarts H, Gloerich J, Nijtmans L,
            Koopman W and Huynen MA.
  TITLE     BOLA1 is an aerobic protein that prevents mitochondrial morphology
            changes induced by glutathione depletion
  JOURNAL   Antioxid Redox Signal 18 (2), 129-138 (2013)
   PUBMED   22746225
  REMARK    GeneRIF: is an aerobic, mitochondrial protein that prevents
            mitochondrial morphology aberrations induced by GSH depletion and
            reduces the associated oxidative shift of the mitochondrial thiol
            redox potential
REFERENCE   7  (residues 1 to 137)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 137)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   9  (residues 1 to 137)
  AUTHORS   Zhou YB, Cao JB, Wan BB, Wang XR, Ding GH, Zhu H, Yang HM, Wang KS,
            Zhang X and Han ZG.
  TITLE     hBolA, novel non-classical secreted proteins, belonging to
            different BolA family with functional divergence
  JOURNAL   Mol Cell Biochem 317 (1-2), 61-68 (2008)
   PUBMED   18548201
  REMARK    GeneRIF: This study reported that all three human BolA proteins
            (hBolA1, hBolA2, and hBolA3) are novel non-classical secreted
            proteins identified with bioinformatics and molecular biology
            experiments.
REFERENCE   10 (residues 1 to 137)
  AUTHORS   Kasai T, Inoue M, Koshiba S, Yabuki T, Aoki M, Nunokawa E, Seki E,
            Matsuda T, Matsuda N, Tomo Y, Shirouzu M, Terada T, Obayashi N,
            Hamana H, Shinya N, Tatsuguchi A, Yasuda S, Yoshida M, Hirota H,
            Matsuo Y, Tani K, Suzuki H, Arakawa T, Carninci P, Kawai J,
            Hayashizaki Y, Kigawa T and Yokoyama S.
  TITLE     Solution structure of a BolA-like protein from Mus musculus
  JOURNAL   Protein Sci 13 (2), 545-548 (2004)
   PUBMED   14718656
  REMARK    GeneRIF: BOLA-like proteins are widely conserved from prokaryotes
            to eukaryotes and may be involved in cell proliferation or
            cell-cycle regulation.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC239868.2, BF970430.1, AK313014.1 and BQ277416.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.65256.1, ERR279824.7484.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..137
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     Protein         1..137
                     /product="bolA-like protein 1 precursor"
                     /note="bolA-like protein 1; bolA-like 1; bolA homolog 1"
                     /calculated_mol_wt=12229
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2079
     Region          40..113
                     /region_name="BolA"
                     /note="BolA-like protein; pfam01722"
                     /db_xref="CDD:396332"
     Site            81
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D8S9; propagated from
                     UniProtKB/Swiss-Prot (Q9Y3E2.1)"
     Region          114..137
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y3E2.1)"
     CDS             1..137
                     /gene="BOLA1"
                     /gene_synonym="CGI-143"
                     /coded_by="NM_001321026.2:381..794"
                     /db_xref="CCDS:CCDS939.1"
                     /db_xref="GeneID:51027"
                     /db_xref="HGNC:HGNC:24263"
                     /db_xref="MIM:613181"
ORIGIN      
        1 mlsgrlvlgl vsmagrvclc qgsagsgaig pveaairtkl eealspevle lrnesgghav
       61 ppgsethfrv avvssrfegl splqrhrlvh aalaeelggp vhalaiqart paqwrensql
      121 dtsppclggn kktlgtp
//
LOCUS       NP_001357144             549 aa            linear   PRI 25-DEC-2022
DEFINITION  endothelial zinc finger protein induced by tumor necrosis factor
            alpha isoform 2 [Homo sapiens].
ACCESSION   NP_001357144 XP_011525495
VERSION     NP_001357144.1
DBSOURCE    REFSEQ: accession NM_001370215.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 549)
  AUTHORS   Ye Q, Mohamed R, Dakhlallah D, Gencheva M, Hu G, Pearce MC, Kolluri
            SK, Marsh CB, Eubank TD, Ivanov AV and Guo NL.
  TITLE     Molecular Analysis of ZNF71 KRAB in Non-Small-Cell Lung Cancer
  JOURNAL   Int J Mol Sci 22 (7), 3752 (2021)
   PUBMED   33916522
  REMARK    GeneRIF: Molecular Analysis of ZNF71 KRAB in Non-Small-Cell Lung
            Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 549)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 549)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (residues 1 to 549)
  AUTHORS   Kim JH, Cheong HS, Park JS, Jang AS, Uh ST, Kim YH, Kim MK, Choi
            IS, Cho SH, Choi BW, Bae JS, Park CS and Shin HD.
  TITLE     A genome-wide association study of total serum and mite-specific
            IgEs in asthma patients
  JOURNAL   PLoS One 8 (8), e71958 (2013)
   PUBMED   23967269
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 549)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A,
            Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel
            S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA,
            Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J,
            Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M,
            Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W,
            Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V,
            Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready
            P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S,
            Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer
            J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D,
            Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo
            N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS,
            DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA,
            Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM and Lucas
            SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
REFERENCE   6  (residues 1 to 549)
  AUTHORS   Mataki C, Murakami T, Umetani M, Wada Y, Ishii M, Tsutsumi S,
            Aburatani H, Hamakubo T and Kodama T.
  TITLE     A novel zinc finger protein mRNA in human umbilical vein
            endothelial cells is profoundly induced by tumor necrosis factor
            alpha
  JOURNAL   J Atheroscler Thromb 7 (2), 97-103 (2000)
   PUBMED   11426589
REFERENCE   7  (residues 1 to 549)
  AUTHORS   Lichter P, Bray P, Ried T, Dawid IB and Ward DC.
  TITLE     Clustering of C2-H2 zinc finger motif sequences within telomeric
            and fragile site regions of human chromosomes
  JOURNAL   Genomics 13 (4), 999-1007 (1992)
   PUBMED   1505991
REFERENCE   8  (residues 1 to 549)
  AUTHORS   Aubry M, Marineau C, Zhang FR, Zahed L, Figlewicz D, Delattre O,
            Thomas G, de Jong PJ, Julien JP and Rouleau GA.
  TITLE     Cloning of six new genes with zinc finger motifs mapping to short
            and long arms of human acrocentric chromosome 22 (p and q11.2)
  JOURNAL   Genomics 13 (3), 641-648 (1992)
   PUBMED   1639391
REFERENCE   9  (residues 1 to 549)
  AUTHORS   Bray P, Lichter P, Thiesen HJ, Ward DC and Dawid IB.
  TITLE     Characterization and mapping of human genes encoding zinc finger
            proteins
  JOURNAL   Proc Natl Acad Sci U S A 88 (21), 9563-9567 (1991)
   PUBMED   1946370
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY138791.1, CR989498.1, AF269249.1, BC014280.2, BQ932244.1,
            CA416578.1, AC007228.1 and AA580897.1.
            On May 2, 2019 this sequence version replaced XP_011525495.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.39701.1,
                                           SRR1803616.94994.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000599599.7/ ENSP00000471138.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..549
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     Protein         1..549
                     /product="endothelial zinc finger protein induced by tumor
                     necrosis factor alpha isoform 2"
                     /note="endothelial zinc finger protein induced by tumor
                     necrosis factor alpha; Kruppel-related zinc finger
                     protein"
                     /calculated_mol_wt=61527
     Region          13..54
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          168..184
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          170..544
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          192..212
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(197,199,201,203..204,207..208,211,225,227,231..232,
                     235..236,239,253,255,257,259..260,263..264,267)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          220..240
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          248..268
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          276..296
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          304..324
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          332..352
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(337,339,341,343..344,347..348,351,365,367,371..372,
                     375..376,379,393,395,397,399..400,403..404,407)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          360..380
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          388..408
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          416..436
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          444..464
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          472..492
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(477,479,481,483..484,487..488,491,505,507,511..512,
                     515..516,519,533,535,537,539..540,543..544,547)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          500..520
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          528..548
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..549
                     /gene="ZNF71"
                     /gene_synonym="EZFIT"
                     /coded_by="NM_001370215.1:180..1829"
                     /note="isoform 2 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS92695.1"
                     /db_xref="GeneID:58491"
                     /db_xref="HGNC:HGNC:13141"
                     /db_xref="MIM:194545"
ORIGIN      
        1 maaqlltdea lesvtfrdvt vdftqeewqq lepaqkdlyr dvmlenyrnl vsldwetrpe
       61 mkeldpkndi sedklsvvge atggptrnga rgpgsegvwe pgswperprg dagaeweplg
      121 ipqgnkllgg svpachelka fanqgcvlvp prlddptekg acppvrrgkn fsstsdlskp
      181 pmpceekkty dcsecgkafs rssslikhqr ihtgekpfec dtcgkhfier ssltihqrvh
      241 tgekpyacgd cgkafsqrmn ltvhqrthtg ekpyvcdvcg kafrktsslt qherihtgek
      301 pyacgdcgka fsqnmhlivh qrthtgekpy vcpecgrafs qnmhltehqr thtgekpyac
      361 kecgkafnks ssltlhqrnh tgekpyvcge cgkafsqssy liqhqrfhig vkpfecsecg
      421 kafsknsslt qhqrihtgek pyecyickkh ftgrsslivh qivhtgekpy vcgecgkafs
      481 qsayliehqr ihtgekpyrc gqcgksfikn ssltvhqrih tgekpyrcge cgktfsrntn
      541 ltrhlriht
//
LOCUS       NP_001257907             218 aa            linear   PRI 25-DEC-2022
DEFINITION  IST1 homolog isoform e [Homo sapiens].
ACCESSION   NP_001257907
VERSION     NP_001257907.1
DBSOURCE    REFSEQ: accession NM_001270978.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 218)
  AUTHORS   Cada AK, Pavlin MR, Castillo JP, Tong AB, Larsen KP, Ren X, Yokom
            AL, Tsai FC, Shiah JV, Bassereau PM, Bustamante CJ and Hurley JH.
  TITLE     Friction-driven membrane scission by the human ESCRT-III proteins
            CHMP1B and IST1
  JOURNAL   Proc Natl Acad Sci U S A 119 (29), e2204536119 (2022)
   PUBMED   35858336
  REMARK    GeneRIF: Friction-driven membrane scission by the human ESCRT-III
            proteins CHMP1B and IST1.
REFERENCE   2  (residues 1 to 218)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 218)
  AUTHORS   Nguyen HC, Talledge N, McCullough J, Sharma A, Moss FR 3rd, Iwasa
            JH, Vershinin MD, Sundquist WI and Frost A.
  TITLE     Membrane constriction and thinning by sequential ESCRT-III
            polymerization
  JOURNAL   Nat Struct Mol Biol 27 (4), 392-399 (2020)
   PUBMED   32251413
  REMARK    GeneRIF: To learn how certain ESCRT-IIIs shape positively curved
            membranes, we determined structures of human membrane-bound
            CHMP1B-only, membrane-bound CHMP1B + IST1, and IST1-only filaments
            by cryo-EM
REFERENCE   4  (residues 1 to 218)
  AUTHORS   Chang CL, Weigel AV, Ioannou MS, Pasolli HA, Xu CS, Peale DR,
            Shtengel G, Freeman M, Hess HF, Blackstone C and
            Lippincott-Schwartz J.
  TITLE     Spastin tethers lipid droplets to peroxisomes and directs fatty
            acid trafficking through ESCRT-III
  JOURNAL   J Cell Biol 218 (8), 2583-2599 (2019)
   PUBMED   31227594
REFERENCE   5  (residues 1 to 218)
  AUTHORS   Gonzalez-Begne M, Lu B, Han X, Hagen FK, Hand AR, Melvin JE and
            Yates JR.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   6  (residues 1 to 218)
  AUTHORS   Agromayor M, Carlton JG, Phelan JP, Matthews DR, Carlin LM,
            Ameer-Beg S, Bowers K and Martin-Serrano J.
  TITLE     Essential role of hIST1 in cytokinesis
  JOURNAL   Mol Biol Cell 20 (5), 1374-1387 (2009)
   PUBMED   19129480
  REMARK    GeneRIF: hIST1 is essential for cytokinesis in mammalian cells.
REFERENCE   7  (residues 1 to 218)
  AUTHORS   Bajorek M, Morita E, Skalicky JJ, Morham SG, Babst M and Sundquist
            WI.
  TITLE     Biochemical analyses of human IST1 and its function in cytokinesis
  JOURNAL   Mol Biol Cell 20 (5), 1360-1373 (2009)
   PUBMED   19129479
  REMARK    GeneRIF: IST1 and CHMP1 act together to recruit and modulate
            specific VPS4 activities required during the final stages of cell
            division.
REFERENCE   8  (residues 1 to 218)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   9  (residues 1 to 218)
  AUTHORS   Yuan J, Ma J, Zheng H, Shi T, Sun W, Zhang Q, Lin D, Zhang K, He J,
            Mao Y, Gao X, Gao P, Han N, Fu G, Xiao T, Gao Y, Ma D and Cheng S.
  TITLE     Overexpression of OLC1, cigarette smoke, and human lung
            tumorigenesis
  JOURNAL   J Natl Cancer Inst 100 (22), 1592-1605 (2008)
   PUBMED   19001599
  REMARK    GeneRIF: OLC1 (KIAA0174) is a candidate oncogene in lung cancer
            whose expression may be regulated by exposure to cigarette smoke.
REFERENCE   10 (residues 1 to 218)
  AUTHORS   Kaye,F.J.
  TITLE     Defining a candidate lung cancer gene
  JOURNAL   J Natl Cancer Inst 100 (22), 1564-1565 (2008)
   PUBMED   19001597
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA698420.1, BX364250.2,
            AK057902.1 and AC009127.10.
            
            Summary: This gene encodes a protein with MIT-interacting motifs
            that interacts with components of endosomal sorting complexes
            required for transport (ESCRT). ESCRT functions in vesicle budding,
            such as that which occurs during membrane abscission in
            cytokinesis. There is a pseudogene for this gene on chromosome 19.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Aug
            2012].
            
            Transcript Variant: This variant (5) lacks three exons in the
            coding region, and initiates translation at a downstream in-frame
            start codon, compared to variant 1. The encoded isoform (e) is
            shorter than isoform a. Both variants 5 and 6 encode the same
            isoform (e).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX364250.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..218
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.2"
     Protein         1..218
                     /product="IST1 homolog isoform e"
                     /note="IST1 homolog; charged multivesicular body protein
                     8; putative MAPK-activating protein PM28; overexpressed in
                     lung cancer 1; increased sodium tolerance 1 homolog; IST1,
                     ESCRT-III associated factor; IST1, endosomal sorting
                     complex required for transport-III component"
                     /calculated_mol_wt=22958
     Region          <1..28
                     /region_name="Ist1"
                     /note="Regulator of Vps4 activity in the MVB pathway;
                     pfam03398"
                     /db_xref="CDD:427278"
     CDS             1..218
                     /gene="IST1"
                     /gene_synonym="CHMP8; OLC1"
                     /coded_by="NM_001270978.2:147..803"
                     /note="isoform e is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS59274.1"
                     /db_xref="GeneID:9798"
                     /db_xref="HGNC:HGNC:28977"
                     /db_xref="MIM:616434"
ORIGIN      
        1 mhklsveapp kilverylie iaknynvpye pdsvvmaeap pgvetdlidv gftddvkkgg
       61 pgrggsggft apvggpdgtv pmpmpmpmpm psantpfsyp lpkgpsdfng lpmgtyqafp
      121 nihppqipat ppsyesvddi nadknissaq ivgpgpkpea saklpsrpad nydnfvlpel
      181 psvpdtlpta sagastsase didfddlsrr feelkkkt
//
LOCUS       NP_001277026             142 aa            linear   PRI 26-DEC-2022
DEFINITION  transmembrane protein 114 isoform c [Homo sapiens].
ACCESSION   NP_001277026
VERSION     NP_001277026.1
DBSOURCE    REFSEQ: accession NM_001290097.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 142)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 142)
  AUTHORS   Gai D, Nicholl J, Waters W, Barnett CP and Yu S.
  TITLE     Interstitial deletion at chromosome 16p13.2 involving TMEM114
            (transmembrane protein 114) in a boy and his father without
            cataract
  JOURNAL   Am J Med Genet A 164A (3), 834-836 (2014)
   PUBMED   24357539
REFERENCE   3  (residues 1 to 142)
  AUTHORS   't Hart LM, Fritsche A, Nijpels G, van Leeuwen N, Donnelly LA,
            Dekker JM, Alssema M, Fadista J, Carlotti F, Gjesing AP, Palmer CN,
            van Haeften TW, Herzberg-Schafer SA, Simonis-Bik AM,
            Houwing-Duistermaat JJ, Helmer Q, Deelen J, Guigas B, Hansen T,
            Machicao F, Willemsen G, Heine RJ, Kramer MH, Holst JJ, de Koning
            EJ, Haring HU, Pedersen O, Groop L, de Geus EJ, Slagboom PE,
            Boomsma DI, Eekhoff EM, Pearson ER and Diamant M.
  TITLE     The CTRB1/2 locus affects diabetes susceptibility and treatment via
            the incretin pathway
  JOURNAL   Diabetes 62 (9), 3275-3281 (2013)
   PUBMED   23674605
REFERENCE   4  (residues 1 to 142)
  AUTHORS   Vanita V and Singh D.
  TITLE     A missense mutation in CRYGD linked with autosomal dominant
            congenital cataract of aculeiform type
  JOURNAL   Mol Cell Biochem 368 (1-2), 167-172 (2012)
   PUBMED   22669729
REFERENCE   5  (residues 1 to 142)
  AUTHORS   Maher GJ, Hilton EN, Urquhart JE, Davidson AE, Spencer HL, Black GC
            and Manson FD.
  TITLE     The cataract-associated protein TMEM114, and TMEM235, are
            glycosylated transmembrane proteins that are distinct from claudin
            family members
  JOURNAL   FEBS Lett 585 (14), 2187-2192 (2011)
   PUBMED   21689651
  REMARK    GeneRIF: Data demonstrate that TMEM114, and the closely related
            TMEM235, are closely related to members of the voltage dependent
            calcium channel gamma subunit family.
REFERENCE   6  (residues 1 to 142)
  AUTHORS   Mihelec M, St Heaps L, Flaherty M, Billson F, Rudduck C, Tam PP,
            Grigg JR, Peters GB and Jamieson RV.
  TITLE     Chromosomal rearrangements and novel genes in disorders of eye
            development, cataract and glaucoma
  JOURNAL   Twin Res Hum Genet 11 (4), 412-421 (2008)
   PUBMED   18637741
  REMARK    Review article
REFERENCE   7  (residues 1 to 142)
  AUTHORS   Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, Carette M,
            Grigg JR, McAvoy JW, Lovicu FJ, Tam PP, Scambler P, Lloyd IC,
            Donnai D and Black GC.
  TITLE     Characterization of a familial t(16;22) balanced translocation
            associated with congenital cataract leads to identification of a
            novel gene, TMEM114, expressed in the lens and disrupted by the
            translocation
  JOURNAL   Hum Mutat 28 (10), 968-977 (2007)
   PUBMED   17492639
  REMARK    GeneRIF: TMEM114 has a role in mammalian cataract formation
REFERENCE   8  (residues 1 to 142)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N,
            Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar
            M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from FO181539.6, BM712244.1 and
            BM670302.1.
            
            Summary: This gene encodes a glycosylated transmembrane protein
            that plays a role in lens and eye development. Mutations in this
            gene, including a t(16;22)(p13.3;q11.2) translocation, are
            associated with congenital and juvenile cataract disorders.
            Alternative splicing of this gene results in multiple transcript
            variants. [provided by RefSeq, Feb 2014].
            
            Transcript Variant: This variant (3) contains an alternate 5'
            terminal exon, and it thus differs in the 5' UTR and initiates
            translation at a downstream in-frame start codon, compared to
            variant 1. The encoded isoform (c) is shorter at the N-terminus,
            compared to isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BM712244.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..142
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.2"
     Protein         1..142
                     /product="transmembrane protein 114 isoform c"
                     /calculated_mol_wt=15462
     Region          <11..126
                     /region_name="PMP22_Claudin"
                     /note="PMP-22/EMP/MP20/Claudin family; cl21598"
                     /db_xref="CDD:451326"
     CDS             1..142
                     /gene="TMEM114"
                     /coded_by="NM_001290097.2:516..944"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS76819.1"
                     /db_xref="GeneID:283953"
                     /db_xref="HGNC:HGNC:33227"
                     /db_xref="MIM:611579"
ORIGIN      
        1 mnpfrlenvt vsessrqllt mhgtfvillp lslilmvfgg mtgflsfllq ayllllltgi
       61 lflfgamvtl agisvyiays aaafrealcl leekalldqv disfgwslal gwisfiaell
      121 tgaaflaaar elslrrrqdq ai
//
LOCUS       NP_689549               1112 aa            linear   PRI 26-DEC-2022
DEFINITION  cytosolic carboxypeptidase 4 isoform 2 [Homo sapiens].
ACCESSION   NP_689549
VERSION     NP_689549.3
DBSOURCE    REFSEQ: accession NM_152336.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1112)
  AUTHORS   Zhang L, Li X, Quan X, Tian W, Yang X and Zhou B.
  TITLE     A Case/Control Study: AGBL1 Polymorphism Related to Lung Cancer
            Risk in Chinese Nonsmoking Females
  JOURNAL   DNA Cell Biol 38 (12), 1452-1459 (2019)
   PUBMED   31603707
  REMARK    GeneRIF: rs4513061 in AGBL1 Gene is associated with decrease in the
            risk of lung cancer.
REFERENCE   2  (residues 1 to 1112)
  AUTHORS   Del-Aguila JL, Beitelshees AL, Cooper-Dehoff RM, Chapman AB, Gums
            JG, Bailey K, Gong Y, Turner ST, Johnson JA and Boerwinkle E.
  TITLE     Genome-wide association analyses suggest NELL1 influences adverse
            metabolic response to HCTZ in African Americans
  JOURNAL   Pharmacogenomics J 14 (1), 35-40 (2014)
   PUBMED   23400010
REFERENCE   3  (residues 1 to 1112)
  AUTHORS   Riazuddin SA, Vasanth S, Katsanis N and Gottsch JD.
  TITLE     Mutations in AGBL1 cause dominant late-onset Fuchs corneal
            dystrophy and alter protein-protein interaction with TCF4
  JOURNAL   Am J Hum Genet 93 (4), 758-764 (2013)
   PUBMED   24094747
  REMARK    GeneRIF: That AGBL1 interacts biochemically with the FCD-associated
            protein TCF4.
REFERENCE   4  (residues 1 to 1112)
  AUTHORS   Ikeda M, Okahisa Y, Aleksic B, Won M, Kondo N, Naruse N,
            Aoyama-Uehara K, Sora I, Iyo M, Hashimoto R, Kawamura Y, Nishida N,
            Miyagawa T, Takeda M, Sasaki T, Tokunaga K, Ozaki N, Ujike H and
            Iwata N.
  TITLE     Evidence for shared genetic risk between methamphetamine-induced
            psychosis and schizophrenia
  JOURNAL   Neuropsychopharmacology 38 (10), 1864-1870 (2013)
   PUBMED   23594818
REFERENCE   5  (residues 1 to 1112)
  AUTHORS   Tang W, Schwienbacher C, Lopez LM, Ben-Shlomo Y, Oudot-Mellakh T,
            Johnson AD, Samani NJ, Basu S, Gogele M, Davies G, Lowe GD,
            Tregouet DA, Tan A, Pankow JS, Tenesa A, Levy D, Volpato CB, Rumley
            A, Gow AJ, Minelli C, Yarnell JW, Porteous DJ, Starr JM, Gallacher
            J, Boerwinkle E, Visscher PM, Pramstaller PP, Cushman M, Emilsson
            V, Plump AS, Matijevic N, Morange PE, Deary IJ, Hicks AA and Folsom
            AR.
  TITLE     Genetic associations for activated partial thromboplastin time and
            prothrombin time, their gene expression profiles, and risk of
            coronary artery disease
  JOURNAL   Am J Hum Genet 91 (1), 152-162 (2012)
   PUBMED   22703881
REFERENCE   6  (residues 1 to 1112)
  AUTHORS   Clark SL, Adkins DE, Aberg K, Hettema JM, McClay JL, Souza RP and
            van den Oord EJ.
  TITLE     Pharmacogenomic study of side-effects for antidepressant treatment
            options in STAR*D
  JOURNAL   Psychol Med 42 (6), 1151-1162 (2012)
   PUBMED   22041458
REFERENCE   7  (residues 1 to 1112)
  AUTHORS   Kuparinen T, Seppala I, Jylhava J, Marttila S, Aittoniemi J,
            Kettunen J, Viikari J, Kahonen M, Raitakari O, Lehtimaki T and
            Hurme M.
  TITLE     Genome-wide association study does not reveal major genetic
            determinants for anti-cytomegalovirus antibody response
  JOURNAL   Genes Immun 13 (2), 184-190 (2012)
   PUBMED   21993531
REFERENCE   8  (residues 1 to 1112)
  AUTHORS   Rogowski K, van Dijk J, Magiera MM, Bosc C, Deloulme JC, Bosson A,
            Peris L, Gold ND, Lacroix B, Bosch Grau M, Bec N, Larroque C,
            Desagher S, Holzer M, Andrieux A, Moutin MJ and Janke C.
  TITLE     A family of protein-deglutamylating enzymes associated with
            neurodegeneration
  JOURNAL   Cell 143 (4), 564-578 (2010)
   PUBMED   21074048
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC016180.14, AC107978.2, AC025842.11, AC069197.6, AC022817.8,
            AC012229.8, AC016987.4 and AC078905.5.
            On Jun 17, 2016 this sequence version replaced NP_689549.2.
            
            Summary: Polyglutamylation is a reversible posttranslational
            modification catalyzed by polyglutamylases that results in the
            addition of glutamate side chains on the modified protein. This
            gene encodes a glutamate decarboxylase that catalyzes the
            deglutamylation of polyglutamylated proteins. Mutations in this
            gene result in dominant late-onset Fuchs corneal dystrophy.
            [provided by RefSeq, Nov 2013].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA2158800, SAMN03465409
                              [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1112
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.3"
     Protein         1..1112
                     /product="cytosolic carboxypeptidase 4 isoform 2"
                     /EC_number="3.4.17.24"
                     /note="cytosolic carboxypeptidase 4; ATP/GTP binding
                     protein like 1; protein deglutamylase CCP4"
                     /calculated_mol_wt=125200
     Region          291..345
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MI9.3)"
     Region          596..730
                     /region_name="Pepdidase_M14_N"
                     /note="Cytosolic carboxypeptidase N-terminal domain;
                     pfam18027"
                     /db_xref="CDD:407865"
     Region          754..1040
                     /region_name="M14_Nna1"
                     /note="Peptidase M14-like domain of ATP/GTP binding
                     proteins and cytosolic carboxypeptidases; cd06906"
                     /db_xref="CDD:349477"
     Site            order(804,807,854,863..864,901..902,911,986)
                     /site_type="active"
                     /db_xref="CDD:349477"
     CDS             1..1112
                     /gene="AGBL1"
                     /gene_synonym="CCP4; FECD8"
                     /coded_by="NM_152336.4:354..3692"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS58398.2"
                     /db_xref="GeneID:123624"
                     /db_xref="HGNC:HGNC:26504"
                     /db_xref="MIM:615496"
ORIGIN      
        1 maeqeasglq vllhtlqsss dkesiltilk vlgdllsvgt drrihymisk ggseallqtl
       61 vdtartappd ydillplfrl lakvglrdkk igrkalelea ldvtlilark nlshgqnllh
      121 clwalrvfas svsmgamlgi ngamellfkv itpytrkrtq airaatevla allksksngr
      181 ravnrgyvts llglhqdwhs hdtanayvqi rrglllclrh iaalrsgrea flaaqgmeil
      241 fsttqncldd ksmepvisvv lqilrqcypt splplvtass ayafpvpgci ttepphdlpe
      301 edfeddgdde vdkdsdtedg kvedddletd vnklsskpgl drpeeelmqy evmclelsys
      361 feelqsklgd dlnsektqya nhhhipaaas skqhcyskdq sscgqereya vqtsllcrvk
      421 tgrstvhlgs kknpgvnlyq nvqsnslrrd sseseipdiq aspkadawdv daifcprmsa
      481 sfsnstrtre vvkvidkllq thlkrvpfhd pylymakarr tssvvdfkmm afpdvwghcp
      541 ppttqpmler kcgvqririf edirrliqps dvinkvvfsl depwplqdna snclrffskf
      601 esgnlrkaiq vrefeydllv nadvnstqhq qwfyfkvsgm qaaipyhfni incekpnsqf
      661 nygmqptlys vkeallgkpt wirtgheicy yknhyrqsta vaggasgkcy ytltfavtfp
      721 hsedvcylay hypytytalm thldileksv nlkevyfrqd vlcqtlggnp cplvtitamp
      781 esnsdehleq frhrpyqvit arvhpgesna swvmkgtlef lvssdpvarl lrenfifkii
      841 pmlnpdgvin gnhrcslsge dlnrqwlsps ahlqptiyha kgllyhlssi grspvvfcdf
      901 hghsqkknvf lygcsiketl wqaactvgts tileevnyrt lpkildklap aftmsscsfl
      961 veksrastar vvvwremgvs rsytmessyc gcnqgpyqct qrllertkne rahpvdglqg
     1021 lqfgtrelee mgamfclgll ilelksascs hqllaqaatl lsaeedaldq hlqrlkssnf
     1081 lpkhiwfayh ffaitnffkm nlllhvspvc dt
//
LOCUS       NP_001339170             519 aa            linear   PRI 27-DEC-2022
DEFINITION  zinc finger protein 333 isoform 4 [Homo sapiens].
ACCESSION   NP_001339170 XP_016882860
VERSION     NP_001339170.1
DBSOURCE    REFSEQ: accession NM_001352241.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 519)
  AUTHORS   Jing Z, Liu Y, Dong M, Hu S and Huang S.
  TITLE     Identification of the DNA binding element of the human ZNF333
            protein
  JOURNAL   J Biochem Mol Biol 37 (6), 663-670 (2004)
   PUBMED   15607024
  REMARK    GeneRIF: ZNF333 recognized the specific DNA core binding sequence
            ATAAT
REFERENCE   2  (residues 1 to 519)
  AUTHORS   Tian Y, Breedveld GJ, Huang S, Oostra BA, Heutink P and Lo WH.
  TITLE     Characterization of ZNF333, a novel double KRAB domain containing
            zinc finger gene on human chromosome 19p13.1
  JOURNAL   Biochim Biophys Acta 1577 (1), 121-125 (2002)
   PUBMED   12151103
  REMARK    GeneRIF: dna sequence analysis of ZNF333 gene located on chromosome
            19p13.1
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA103403.1, DA248936.1, AC090427.2 and AF372702.1.
            On Jun 9, 2017 this sequence version replaced XP_016882860.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.136954.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142363
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..519
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.12"
     Protein         1..519
                     /product="zinc finger protein 333 isoform 4"
                     /calculated_mol_wt=59067
     Region          57..117
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          194..214
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(194,197,210,214)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          <211..379
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          222..242
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(222,225,238,242)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          250..270
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(250,253,266,270)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Region          278..298
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(278,281,294,298)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(283,285,287,289..290,293..294,297,311,313,317..318,
                     321..322,325,339,341,343,345..346,349..350,353)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          306..326
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          334..354
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          362..382
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          390..410
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(390,393,406,410)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:275368"
     Site            order(395,397,399,401..402,405..406,409,423,425,429..430,
                     433..434,437,451,453,455,457..458,461..462,465)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          403..426
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          418..438
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          430..455
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          446..466
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          472..494
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          474..494
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..519
                     /gene="ZNF333"
                     /coded_by="NM_001352241.2:837..2396"
                     /note="isoform 4 is encoded by transcript variant 5"
                     /db_xref="GeneID:84449"
                     /db_xref="HGNC:HGNC:15624"
                     /db_xref="MIM:611811"
ORIGIN      
        1 mqiqrvvipv ptlghrnpwv ardsavpard pawlqedkve eeamapglpt acsqepvtfa
       61 dvavvftpee wvfldstqrs lyrdvmleny rnlasvadql ckpnalsyle ergeqwttdr
      121 gvlsdtcaep qcqpqeaips qdtfteilsi dvkgeqpqpg eklykynele kpfnsieplf
      181 qyqrihagea scecqeirns ffqsahlivp ekirsgdksy acnkceksfr yssdlirhek
      241 thtaekcfdc qecgqafkys snlrrhmrth tgekpfecsq cgktftrnfn lilhqrnhtg
      301 ekpyeckdcg kafnqpsslr shvrthtgek pfecsqcgka frehsslkth lrthtrekpy
      361 ecnqcgkpfr tsthlnvhkr ihtgeklyec atcgqvlsrl stlkshmrth tgekpyvcqe
      421 cgrafsepss lrkharthsg kkpyacqecg rafgqsshli vhvrthsagr pyqcnqceka
      481 frhsssltvh krthvgreti rngslplsms hpycgplan
//
LOCUS       NP_001339289             860 aa            linear   PRI 27-DEC-2022
DEFINITION  serine/threonine-protein phosphatase 6 regulatory subunit 3 isoform
            17 [Homo sapiens].
ACCESSION   NP_001339289 XP_011543444
VERSION     NP_001339289.1
DBSOURCE    REFSEQ: accession NM_001352360.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 860)
  AUTHORS   Heo J, Larner JM and Brautigan DL.
  TITLE     Protein kinase CK2 phosphorylation of SAPS3 subunit increases PP6
            phosphatase activity with Aurora A kinase
  JOURNAL   Biochem J 477 (2), 431-444 (2020)
   PUBMED   31904830
  REMARK    GeneRIF: The substitution of Ala in nine putative phosphorylation
            sites in SAPS3 was required to prevent CK2 activation of the
            phosphatase. Different CK2 chemical inhibitors equally increased
            phosphorylation of endogenous AURKA in living cells, consistent
            with reduction in PP6 activity.
REFERENCE   2  (residues 1 to 860)
  AUTHORS   Smebye ML, Agostini A, Johannessen B, Thorsen J, Davidson B, Trope
            CG, Heim S, Skotheim RI and Micci F.
  TITLE     Involvement of DPP9 in gene fusions in serous ovarian carcinoma
  JOURNAL   BMC Cancer 17 (1), 642 (2017)
   PUBMED   28893231
  REMARK    GeneRIF: we found a DPP9-PPP6R3 fusion transcript in one tumor
            showing a matching genomic 11;19-translocation. Another tumor had a
            rearrangement of DPP9 with PLIN3. Both rearrangements were
            associated with diminished expression of the 3' end of DPP9
            corresponding to the breakpoints identified by RNA-seq.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 860)
  AUTHORS   Yadav L, Tamene F, Goos H, van Drogen A, Katainen R, Aebersold R,
            Gstaiger M and Varjosalo M.
  TITLE     Systematic Analysis of Human Protein Phosphatase Interactions and
            Dynamics
  JOURNAL   Cell Syst 4 (4), 430-444 (2017)
   PUBMED   28330616
REFERENCE   4  (residues 1 to 860)
  AUTHORS   Guo R, Wang X, Chou MM, Asmann Y, Wenger DE, Al-Ibraheemi A, Molavi
            DW, Aboulafia A, Jin L, Fritchie K, Oliveira JL, Jenkins RB,
            Westendorf JJ, Dong J and Oliveira AM.
  TITLE     PPP6R3-USP6 amplification: Novel oncogenic mechanism in malignant
            nodular fasciitis
  JOURNAL   Genes Chromosomes Cancer 55 (8), 640-649 (2016)
   PUBMED   27113271
  REMARK    GeneRIF: Molecular analyses revealed the presence and amplification
            of the novel PPPR6-USP6 gene fusion, which resulted in USP6 mRNA
            transcriptional upregulation. These findings further support the
            oncogenic role of the USP6 protease in mesenchymal neoplasia and
            expand the biologic potential of Nodular fasciitis
REFERENCE   5  (residues 1 to 860)
  AUTHORS   Hasegawa Y, Taylor D, Ovchinnikov DA, Wolvetang EJ, de Torrente L
            and Mar JC.
  TITLE     Variability of Gene Expression Identifies Transcriptional
            Regulators of Early Human Embryonic Development
  JOURNAL   PLoS Genet 11 (8), e1005428 (2015)
   PUBMED   26288249
  REMARK    GeneRIF: Results from a study on gene expression variability
            markers in early-stage human embryos shows that PPP6R3 is a
            putative expression variability marker for the 3-day, 8-cell embryo
            stage.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 860)
  AUTHORS   Nasu-Nishimura Y, Hayashi T, Ohishi T, Okabe T, Ohwada S, Hasegawa
            Y, Senda T, Toyoshima C, Nakamura T and Akiyama T.
  TITLE     Role of the Rho GTPase-activating protein RICS in neurite outgrowth
  JOURNAL   Genes Cells 11 (6), 607-614 (2006)
   PUBMED   16716191
REFERENCE   7  (residues 1 to 860)
  AUTHORS   Ballif BA, Villen J, Beausoleil SA, Schwartz D and Gygi SP.
  TITLE     Phosphoproteomic analysis of the developing mouse brain
  JOURNAL   Mol Cell Proteomics 3 (11), 1093-1101 (2004)
   PUBMED   15345747
REFERENCE   8  (residues 1 to 860)
  AUTHORS   Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S,
            Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett
            JR, Langeberg LK, Scott JD and Pawson T.
  TITLE     Proteomic, functional, and domain-based analysis of in vivo 14-3-3
            binding proteins involved in cytoskeletal regulation and cellular
            organization
  JOURNAL   Curr Biol 14 (16), 1436-1450 (2004)
   PUBMED   15324660
REFERENCE   9  (residues 1 to 860)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   10 (residues 1 to 860)
  AUTHORS   Twells RC, Metzker ML, Brown SD, Cox R, Garey C, Hammond H, Hey PJ,
            Levy E, Nakagawa Y, Philips MS, Todd JA and Hess JF.
  TITLE     The sequence and gene characterization of a 400-kb candidate region
            for IDDM4 on chromosome 11q13
  JOURNAL   Genomics 72 (3), 231-242 (2001)
   PUBMED   11401438
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000807.4, AP001788.5 and AP003096.3.
            On Jun 10, 2017 this sequence version replaced XP_011543444.1.
            
            Summary: Protein phosphatase regulatory subunits, such as SAPS3,
            modulate the activity of protein phosphatase catalytic subunits by
            restricting substrate specificity, recruiting substrates, and
            determining the intracellular localization of the holoenzyme. SAPS3
            is a regulatory subunit for the protein phosphatase-6 catalytic
            subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed
            16769727]).[supplied by OMIM, Nov 2010].
            
            Transcript Variant: This variant (20), as well as variant 33,
            encodes isoform 17.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2142348,
                              SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..860
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     Protein         1..860
                     /product="serine/threonine-protein phosphatase 6
                     regulatory subunit 3 isoform 17"
                     /note="SAPS domain family, member 3;
                     serine/threonine-protein phosphatase 6 regulatory subunit
                     3; sporulation-induced transcript 4-associated protein
                     SAPL"
                     /calculated_mol_wt=96117
     Region          128..513
                     /region_name="SAPS"
                     /note="SIT4 phosphatase-associated protein; pfam04499"
                     /db_xref="CDD:398279"
     CDS             1..860
                     /gene="PPP6R3"
                     /gene_synonym="C11orf23; PP6R3; SAP190; SAPL; SAPLa;
                     SAPS3"
                     /coded_by="NM_001352360.2:361..2943"
                     /note="isoform 17 is encoded by transcript variant 20"
                     /db_xref="GeneID:55291"
                     /db_xref="HGNC:HGNC:1173"
                     /db_xref="MIM:610879"
ORIGIN      
        1 mfwkfdlhss shidtllere dvtlkelmde edvlqeckaq nrkliefllk aecledlvsf
       61 iieeppqdmd ekirykypni scelltsdvs qmndrlgede sllmklysfl lndsplnpll
      121 asffskvlsi lisrkpeqiv dflkkkhdfv dliikhigts aimdlllrll tcieppqprq
      181 dvlnwlneek iiqrlveivh psqeedrhsn asqslceivr lsrdqmlqiq nstepdplla
      241 tlekqeiieq llsnifhkek nesaivsaiq illtlletrr ptfeghieic ppgmshsacs
      301 vnksvleair grlgsfhell leppkksvmk ttwgvldppv gntrlnvirl issllqtnts
      361 singdlmeln sigvilnmff kytwnnflht qveicialil aspfentena titdqdstgd
      421 nlllkhlfqk cqlierilea wemnekkqae ggrrhgymgh ltriancivh stdkgpnsal
      481 vqqlikdlpd evrerwetfc tsslgetnkr ntvdlafsdy qmqqmtsnfi dqfgfndekf
      541 adqddignvs fdrvsdinft lntnesgnia lfeacckeri qqfddggsde ediweekhia
      601 ftpesqrrss sgstdseest dseeedgakq dlfepssant edkmevdlse ppnwsanfdv
      661 pmetthgapl dsvgsdvwst eepmptketg wasfseftss lstkdslrsn spvemetste
      721 pmdpltpsaa alavqpeaag svameassdg eedaestdkv tetvmnggmk etlsltvdak
      781 tetavfkrvl ksyreegkls tsqdaackda eecpetaeak caaprppsss peqsasdacl
      841 lllrtgqpsa pgdtsvngpv
//
LOCUS       NP_001243727             680 aa            linear   PRI 27-DEC-2022
DEFINITION  nucleolar protein 4-like isoform 1 [Homo sapiens].
ACCESSION   NP_001243727
VERSION     NP_001243727.1
DBSOURCE    REFSEQ: accession NM_001256798.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 680)
  AUTHORS   Lin F, Zhou J, Li X and Wang X.
  TITLE     NOL4L, a novel nuclear protein, promotes cell proliferation and
            metastasis by enhancing the PI3K/AKT pathway in ovarian cancer
  JOURNAL   Biochem Biophys Res Commun 559, 121-128 (2021)
   PUBMED   33940382
  REMARK    GeneRIF: NOL4L, a novel nuclear protein, promotes cell
            proliferation and metastasis by enhancing the PI3K/AKT pathway in
            ovarian cancer.
REFERENCE   2  (residues 1 to 680)
  AUTHORS   Nie L, Li C, Zhao T, Wang Y and Liu J.
  TITLE     LncRNA double homeobox A pseudogene 8 (DUXAP8) facilitates the
            progression of neuroblastoma and activates Wnt/beta-catenin pathway
            via microRNA-29/nucleolar protein 4 like (NOL4L) axis
  JOURNAL   Brain Res 1746, 146947 (2020)
   PUBMED   32522628
  REMARK    GeneRIF: LncRNA double homeobox A pseudogene 8 (DUXAP8) facilitates
            the progression of neuroblastoma and activates Wnt/beta-catenin
            pathway via microRNA-29/nucleolar protein 4 like (NOL4L) axis.
REFERENCE   3  (residues 1 to 680)
  AUTHORS   Kawamata N, Pennella MA, Woo JL, Berk AJ and Koeffler HP.
  TITLE     Dominant-negative mechanism of leukemogenic PAX5 fusions
  JOURNAL   Oncogene 31 (8), 966-977 (2012)
   PUBMED   21765475
  REMARK    GeneRIF: the leukemogenic PAX5-C20S fusion protein is a tetramer,
            which interacts extraordinarily stably with chromatin as determined
            by Fluorescence Recovery After Photobleaching in living cells
REFERENCE   4  (residues 1 to 680)
  AUTHORS   Guastadisegni,M.C., Lonoce,A., Impera,L., Di Terlizzi,F.,
            Fugazza,G., Aliano,S., Grasso,R., Cluzeau,T., Raynaud,S., Rocchi,M.
            and Storlazzi,C.T.
  TITLE     CBFA2T2 and C20orf112: two novel fusion partners of RUNX1 in acute
            myeloid leukemia
  JOURNAL   Leukemia 24 (8), 1516-1519 (2010)
   PUBMED   20520637
  REMARK    GeneRIF: report characterization of two chimeric transcripts
            identified in AML translocation cases involving CBFA2T2 and
            C20orf112
REFERENCE   5  (residues 1 to 680)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li
            J, Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   6  (residues 1 to 680)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL133343.23, BC023657.2, BQ067609.1, AK056286.1, BC065370.1,
            AL122043.2, BX281715.1 and AL834520.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript, and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.803307.1,
                                           SRR1660803.238090.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000621426.7/ ENSP00000483523.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..680
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     Protein         1..680
                     /product="nucleolar protein 4-like isoform 1"
                     /calculated_mol_wt=74094
     Region          131..185
                     /region_name="Integrase_H2C2"
                     /note="Integrase zinc binding domain; pfam17921"
                     /db_xref="CDD:436143"
     CDS             1..680
                     /gene="NOL4L"
                     /gene_synonym="C20orf112; C20orf113"
                     /coded_by="NM_001256798.2:444..2486"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS74718.1"
                     /db_xref="GeneID:140688"
                     /db_xref="HGNC:HGNC:16106"
                     /db_xref="MIM:618893"
ORIGIN      
        1 mpkptlllrg gwererspgd selgrqfrdw clrtygdsak tktvtrskyq riaevlqggg
       61 gtgagsgpaa gekgkfqfwv rskgfrlgsg repkmgqvvy vpvktgsgad glsepegisl
      121 krvavvedff diiysmhves saepgkapkh agqkktyrai aetyaflpre avtrflmsct
      181 ecqkrmhfns nglepkenep psplvsgiid ynmpltstyl kqmklrvmns qeqdetsvss
      241 edfdmsdstw msadphlass lspsqdermr spqnlhsqed ddsssesgsg ngsstlnpst
      301 ssstqgdpaf pemngngava pmdfttaaed qpinlcdklp patalgtasy psdgcgadgl
      361 rsrvkygvkt tpesppyssg sydsiktevs gcpedltvgr aptadddddd hddhedndkm
      421 ndsegmdper lkafnmfvrl fvdenldrmv piskqpkeki qaiiescsrq fpefqerark
      481 rirtylkscr rmkkngmemt rptpphltsa maenilaaac esetrkaakr mrleiyqssq
      541 depialdkqh srdsaaiths tyslpassys qdpvyanggl nysyrgygal ssnlqppasl
      601 qtgnhsngpt dlsmkggast tsttptptps ststsrpvpt aqlspteisa vrqliagyre
      661 saafllrsad elenlilqqn
//
LOCUS       NP_001358268             448 aa            linear   PRI 27-DEC-2022
DEFINITION  ETS-related transcription factor Elf-2 isoform 10 [Homo sapiens].
ACCESSION   NP_001358268 XP_024309695
VERSION     NP_001358268.1
DBSOURCE    REFSEQ: accession NM_001371339.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 448)
  AUTHORS   Ma X and Li Y.
  TITLE     Circ_0028007 Aggravates the Malignancy of Nasopharyngeal Carcinoma
            by Regulating miR-656-3p/ELF2 Axis
  JOURNAL   Biochem Genet 60 (6), 2069-2086 (2022)
   PUBMED   35239093
  REMARK    GeneRIF: Circ_0028007 Aggravates the Malignancy of Nasopharyngeal
            Carcinoma by Regulating miR-656-3p/ELF2 Axis.
REFERENCE   2  (residues 1 to 448)
  AUTHORS   Moon SL and Parker R.
  TITLE     EIF2B2 mutations in vanishing white matter disease hypersuppress
            translation and delay recovery during the integrated stress
            response
  JOURNAL   RNA 24 (6), 841-852 (2018)
   PUBMED   29632131
  REMARK    GeneRIF: Mutations in eIF2B genes cause vanishing white matter
            disease due to translation defects.
REFERENCE   3  (residues 1 to 448)
  AUTHORS   Liu Y, Tao Z, Qu J, Zhou X and Zhang C.
  TITLE     Long non-coding RNA PCAT7 regulates ELF2 signaling through
            inhibition of miR-134-5p in nasopharyngeal carcinoma
  JOURNAL   Biochem Biophys Res Commun 491 (2), 374-381 (2017)
   PUBMED   28728844
  REMARK    GeneRIF: PCAT7 contributed to the progression of nasopharyngeal
            carcinoma through regulating miR-134-5p/ELF2 signaling pathway.
REFERENCE   4  (residues 1 to 448)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S,
            Das PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A,
            Ginno PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   5  (residues 1 to 448)
  AUTHORS   Chung IH, Liu H, Lin YH, Chi HC, Huang YH, Yang CC, Yeh CT, Tan BC
            and Lin KH.
  TITLE     ChIP-on-chip analysis of thyroid hormone-regulated genes and their
            physiological significance
  JOURNAL   Oncotarget 7 (16), 22448-22459 (2016)
   PUBMED   26968954
  REMARK    GeneRIF: Our findings collectively support a potential role of
            triiodothyronine and its receptor in tumor growth inhibition
            through regulation of ELF2
REFERENCE   6  (residues 1 to 448)
  AUTHORS   King JK, Yeh SH, Lin MW, Liu CJ, Lai MY, Kao JH, Chen DS and Chen
            PJ.
  TITLE     Genetic polymorphisms in interferon pathway and response to
            interferon treatment in hepatitis B patients: A pilot study
  JOURNAL   Hepatology 36 (6), 1416-1424 (2002)
   PUBMED   12447867
  REMARK    GeneRIF: Observational study of gene-environment interaction. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 448)
  AUTHORS   Christensen RA, Fujikawa K, Madore R, Oettgen P and Varticovski L.
  TITLE     NERF2, a member of the Ets family of transcription factors, is
            increased in response to hypoxia and angiopoietin-1: a potential
            mechanism for Tie2 regulation during hypoxia
  JOURNAL   J Cell Biochem 85 (3), 505-515 (2002)
   PUBMED   11967990
  REMARK    GeneRIF: angiopoietin-1 regulates expression of NERF2 and its own
            receptor in hypoxic cells.
REFERENCE   8  (residues 1 to 448)
  AUTHORS   Mao S, Frank RC, Zhang J, Miyazaki Y and Nimer SD.
  TITLE     Functional and physical interactions between AML1 proteins and an
            ETS protein, MEF: implications for the pathogenesis of
            t(8;21)-positive leukemias
  JOURNAL   Mol Cell Biol 19 (5), 3635-3644 (1999)
   PUBMED   10207087
REFERENCE   9  (residues 1 to 448)
  AUTHORS   Wilkinson DA, Neale GA, Mao S, Naeve CW and Goorha RM.
  TITLE     Elf-2, a rhombotin-2 binding ets transcription factor: discovery
            and potential role in T cell leukemia
  JOURNAL   Leukemia 11 (1), 86-96 (1997)
   PUBMED   9001422
REFERENCE   10 (residues 1 to 448)
  AUTHORS   Oettgen P, Akbarali Y, Boltax J, Best J, Kunsch C and Libermann TA.
  TITLE     Characterization of NERF, a novel transcription factor related to
            the Ets factor ELF-1
  JOURNAL   Mol Cell Biol 16 (9), 5091-5106 (1996)
   PUBMED   8756667
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC024032.5 and AC093602.5.
            On Jul 10, 2019 this sequence version replaced XP_024309695.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.140096.1,
                                           ERR4352441.375493.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..448
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.1"
     Protein         1..448
                     /product="ETS-related transcription factor Elf-2 isoform
                     10"
                     /note="new Ets-related factor; ETS-related transcription
                     factor Elf-2; ets family transcription factor ELF2C;
                     E74-like factor 2 (ets domain transcription factor)"
                     /calculated_mol_wt=48197
     Region          64..144
                     /region_name="Ets"
                     /note="Ets-domain; pfam00178"
                     /db_xref="CDD:425506"
     CDS             1..448
                     /gene="ELF2"
                     /gene_synonym="b; EU32; NERF; NERF-1a; NERF-1A; NERF-1B;
                     NERF-2"
                     /coded_by="NM_001371339.1:919..2265"
                     /note="isoform 10 is encoded by transcript variant 11"
                     /db_xref="GeneID:1998"
                     /db_xref="HGNC:HGNC:3317"
                     /db_xref="MIM:619798"
ORIGIN      
        1 mesptclrds rspefihaam rpdvitetvv evsteesepm dtspiptspd shepmkkkkg
       61 nttylwefll dllqdkntcp ryikwtqrek gifklvdska vsklwgkhkn kpdmnyetmg
      121 ralryyyqrg ilakvegqrl vyqfkdmpkn ivvidddkse tcnedlagtt dekslervsl
      181 saesllkaas svrsgknssp incsraekgv arvvnitspg hdassrsptt tasvsataap
      241 rtvrvamqvp vvmtslgqki stvavqsvna gaplitstsp ttatspkvvi qtiptvmpas
      301 tengdkitmq pakiitipat qlaqcqlqtk snltgsgsin ivgtplavra ltpvsiahgt
      361 pvmrlsmptq qasgqtpprv isavikgpev kseavakkqe hdvktlqlve ekpadgnktv
      421 thvvvvsaps aialpvtmkt eglvtcek
//
LOCUS       NP_001362563              84 aa            linear   PRI 27-DEC-2022
DEFINITION  CDC42 small effector protein 2 [Homo sapiens].
ACCESSION   NP_001362563 XP_016865138
VERSION     NP_001362563.1
DBSOURCE    REFSEQ: accession NM_001375634.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 84)
  AUTHORS   Pothula S, Bazan HE and Chandrasekher G.
  TITLE     Regulation of Cdc42 expression and signaling is critical for
            promoting corneal epithelial wound healing
  JOURNAL   Invest Ophthalmol Vis Sci 54 (8), 5343-5352 (2013)
   PUBMED   23833064
  REMARK    GeneRIF: Cdc42 is an important regulator of corneal epithelial
            wound repair. To promote healing, Cdc42 may interact with receptor
            tyrosine kinase-activated signaling cascades that participate in
            cell migration and cell-cycle progression.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 84)
  AUTHORS   Edwards TL, Wang X, Chen Q, Wormly B, Riley B, O'Neill FA, Walsh D,
            Ritchie MD, Kendler KS and Chen X.
  TITLE     Interaction between interleukin 3 and dystrobrevin-binding protein
            1 in schizophrenia
  JOURNAL   Schizophr Res 106 (2-3), 208-217 (2008)
   PUBMED   18804346
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   3  (residues 1 to 84)
  AUTHORS   Chen X, Wang X, Hossain S, O'Neill FA, Walsh D, Pless L, Chowdari
            KV, Nimgaonkar VL, Schwab SG, Wildenauer DB, Sullivan PF, van den
            Oord E and Kendler KS.
  TITLE     Haplotypes spanning SPEC2, PDZ-GEF2 and ACSL6 genes are associated
            with schizophrenia
  JOURNAL   Hum Mol Genet 15 (22), 3329-3342 (2006)
   PUBMED   17030554
  REMARK    GeneRIF: haplotypes underlying the SPEC2/PDZ-GEF2/acyl-CoA
            synthetase long-chain family member 6 region are associated with
            schizophrenia
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 84)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   5  (residues 1 to 84)
  AUTHORS   Ching KH, Kisailus AE and Burbelo PD.
  TITLE     The role of SPECs, small Cdc42-binding proteins, in F-actin
            accumulation at the immunological synapse
  JOURNAL   J Biol Chem 280 (25), 23660-23667 (2005)
   PUBMED   15840583
  REMARK    GeneRIF: Recruitment of SPEC2 within Jurkat T cells to the
            antigen-presenting cell interface occurred following incubation
            with staphylococcal enterotoxin E superantigen-loaded B cells and
            colocalized there with F-actin and Cdc42. T cell receptor
REFERENCE   6  (residues 1 to 84)
  AUTHORS   Pirone DM, Fukuhara S, Gutkind JS and Burbelo PD.
  TITLE     SPECs, small binding proteins for Cdc42
  JOURNAL   J Biol Chem 275 (30), 22650-22656 (2000)
   PUBMED   10816584
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004777.1 and AC008497.7.
            On Oct 30, 2019 this sequence version replaced XP_016865138.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.26898.1,
                                           SRR11853567.24513.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..84
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     Protein         1..84
                     /product="CDC42 small effector protein 2"
                     /note="non-kinase Cdc42 effector protein SPEC2; small
                     effector of CDC42 protein 2"
                     /calculated_mol_wt=9092
     Region          27..67
                     /region_name="CRIB"
                     /note="PAK (p21 activated kinase) Binding Domain (PBD),
                     binds Cdc42p- and/or Rho-like small GTPases; also known as
                     the Cdc42/Rac interactive binding (CRIB) motif; has been
                     shown to inhibit transcriptional activation and cell
                     transformation mediated by the...; cd00132"
                     /db_xref="CDD:238077"
     Site            order(29,32,35,37,40,56,60)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238077"
     Site            43
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BGH7; propagated from
                     UniProtKB/Swiss-Prot (Q9NRR3.1)"
     Site            52
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BGH7; propagated from
                     UniProtKB/Swiss-Prot (Q9NRR3.1)"
     CDS             1..84
                     /gene="CDC42SE2"
                     /gene_synonym="SPEC2"
                     /coded_by="NM_001375634.1:400..654"
                     /db_xref="CCDS:CCDS34224.1"
                     /db_xref="GeneID:56990"
                     /db_xref="HGNC:HGNC:18547"
                     /db_xref="MIM:619457"
ORIGIN      
        1 msefwlcfnc ciaeqpqpkr rrridrsmig eptnfvhtah vgsgdlfsgm nsvssiqnqm
       61 qskggygggm panvqmqlvd tkag
//
LOCUS       NP_005409               1137 aa            linear   PRI 27-DEC-2022
DEFINITION  DENN domain-containing protein 2B isoform 1 [Homo sapiens].
ACCESSION   NP_005409
VERSION     NP_005409.3
DBSOURCE    REFSEQ: accession NM_005418.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1137)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 1137)
  AUTHORS   Kim MK, Kim B, Kwon JO, Song MK, Jung S, Lee ZH and Kim HH.
  TITLE     ST5 Positively Regulates Osteoclastogenesis via Src/Syk/calcium
            Signaling Pathways
  JOURNAL   Mol Cells 42 (11), 810-819 (2019)
   PUBMED   31707778
  REMARK    GeneRIF: Findings provide evidence of suppression of tumorigenicity
            5 (ST5) involvement in positive regulation of osteoclastogenesis
            via src Kinases (Src)/Syk Kinase (Syk)/calcium signaling.
REFERENCE   3  (residues 1 to 1137)
  AUTHORS   Ioannou MS, Kulasekaran G, Fotouhi M, Morein JJ, Han C, Tse S,
            Nossova N, Han T, Mannard E and McPherson PS.
  TITLE     Intersectin-s interaction with DENND2B facilitates recycling of
            epidermal growth factor receptor
  JOURNAL   EMBO Rep 18 (12), 2119-2130 (2017)
   PUBMED   29030480
  REMARK    GeneRIF: Here, we discover that intersectin-s binds DENND2B, a
            guanine nucleotide exchange factor for the exocytic GTPase Rab13,
            and this interaction promotes recycling of ligand-free EGFR to the
            cell surface.  Our study thus reveals a novel mechanism controlling
            the fate of internalized EGFR with important implications for
            cancer.
REFERENCE   4  (residues 1 to 1137)
  AUTHORS   Ioannou MS, Bell ES, Girard M, Chaineau M, Hamlin JN, Daubaras M,
            Monast A, Park M, Hodgson L and McPherson PS.
  TITLE     DENND2B activates Rab13 at the leading edge of migrating cells and
            promotes metastatic behavior
  JOURNAL   J Cell Biol 208 (5), 629-648 (2015)
   PUBMED   25713415
  REMARK    GeneRIF: DENND2B interacts with the Rab13 effector MICAL-L2 at the
            cell periphery, and this interaction is required for the dynamic
            remodeling of the cell's leading edge.
REFERENCE   5  (residues 1 to 1137)
  AUTHORS   Geller F, Feenstra B, Carstensen L, Pers TH, van Rooij IA, Korberg
            IB, Choudhry S, Karjalainen JM, Schnack TH, Hollegaard MV, Feitz
            WF, Roeleveld N, Hougaard DM, Hirschhorn JN, Franke L, Baskin LS,
            Nordenskjold A, van der Zanden LF and Melbye M.
  TITLE     Genome-wide association analyses identify variants in developmental
            genes associated with hypospadias
  JOURNAL   Nat Genet 46 (9), 957-963 (2014)
   PUBMED   25108383
REFERENCE   6  (residues 1 to 1137)
  AUTHORS   Majidi M, Gutkind JS and Lichy JH.
  TITLE     Deletion of the COOH terminus converts the ST5 p70 protein from an
            inhibitor of RAS signaling to an activator with transforming
            activity in NIH-3T3 cells
  JOURNAL   J Biol Chem 275 (9), 6560-6565 (2000)
   PUBMED   10692462
REFERENCE   7  (residues 1 to 1137)
  AUTHORS   Hubbs AE, Majidi M and Lichy JH.
  TITLE     Expression of an isoform of the novel signal transduction protein
            ST5 is linked to cell morphology
  JOURNAL   Oncogene 18 (15), 2519-2525 (1999)
   PUBMED   10229203
REFERENCE   8  (residues 1 to 1137)
  AUTHORS   Majidi M, Hubbs AE and Lichy JH.
  TITLE     Activation of extracellular signal-regulated kinase 2 by a novel
            Abl-binding protein, ST5
  JOURNAL   J Biol Chem 273 (26), 16608-16614 (1998)
   PUBMED   9632734
REFERENCE   9  (residues 1 to 1137)
  AUTHORS   Lichy JH, Majidi M, Elbaum J and Tsai MM.
  TITLE     Differential expression of the human ST5 gene in HeLa-fibroblast
            hybrid cell lines mediated by YY1: evidence that YY1 plays a part
            in tumor suppression
  JOURNAL   Nucleic Acids Res 24 (23), 4700-4708 (1996)
   PUBMED   8972856
REFERENCE   10 (residues 1 to 1137)
  AUTHORS   Lichy JH, Modi WS, Seuanez HN and Howley PM.
  TITLE     Identification of a human chromosome 11 gene which is
            differentially regulated in tumorigenic and nontumorigenic somatic
            cell hybrids of HeLa cells
  JOURNAL   Cell Growth Differ 3 (8), 541-548 (1992)
   PUBMED   1390339
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026894.7 and AC091053.11.
            On May 12, 2004 this sequence version replaced NP_005409.2.
            
            Summary: This gene was identified by its ability to suppress the
            tumorigenicity of Hela cells in nude mice. The protein encoded by
            this gene contains a C-terminal region that shares similarity with
            the Rab 3 family of small GTP binding proteins. This protein
            preferentially binds to the SH3 domain of c-Abl kinase, and acts as
            a regulator of MAPK1/ERK2 kinase, which may contribute to its
            ability to reduce the tumorigenic phenotype in cells. Three
            alternatively spliced transcript variants of this gene encoding
            distinct isoforms are identified. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC036655.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1137
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..1137
                     /product="DENN domain-containing protein 2B isoform 1"
                     /note="DENN/MADD domain containing 2B; suppression of
                     tumorigenicity 5 protein; heLa tumor suppression 1"
                     /calculated_mol_wt=126354
     Region          1..99
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P78524.3)"
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:29030480; propagated from
                     UniProtKB/Swiss-Prot (P78524.3)"
     Site            32
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q924W7; propagated from
                     UniProtKB/Swiss-Prot (P78524.3)"
     Region          <46..411
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            231
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q924W7; propagated from
                     UniProtKB/Swiss-Prot (P78524.3)"
     Site            233
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q924W7; propagated from
                     UniProtKB/Swiss-Prot (P78524.3)"
     Region          293..573
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P78524.3)"
     Site            364
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P78524.3)"
     Site            368
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P78524.3)"
     Region          401..447
                     /region_name="Interaction with ABL1.
                     /evidence=ECO:0000269|PubMed:9632734"
                     /note="propagated from UniProtKB/Swiss-Prot (P78524.3)"
     Site            482
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q924W7; propagated from
                     UniProtKB/Swiss-Prot (P78524.3)"
     Site            545
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q924W7; propagated from
                     UniProtKB/Swiss-Prot (P78524.3)"
     Site            574
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q924W7; propagated from
                     UniProtKB/Swiss-Prot (P78524.3)"
     Site            622
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P78524.3)"
     Region          641..661
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P78524.3)"
     Region          697..784
                     /region_name="uDENN"
                     /note="Domain always found upstream of DENN domain, found
                     in a variety of signalling proteins; smart00800"
                     /db_xref="CDD:214824"
     Region          792..975
                     /region_name="DENN"
                     /note="Domain found in a variety of signalling proteins,
                     always encircled by uDENN and dDENN; smart00799"
                     /db_xref="CDD:214823"
     Region          1023..1089
                     /region_name="dDENN"
                     /note="Domain always found downstream of DENN domain,
                     found in a variety of signalling proteins; smart00801"
                     /db_xref="CDD:129037"
     CDS             1..1137
                     /gene="DENND2B"
                     /gene_synonym="HTS1; p126; ST5"
                     /coded_by="NM_005418.4:387..3800"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7791.1"
                     /db_xref="GeneID:6764"
                     /db_xref="HGNC:HGNC:11350"
                     /db_xref="MIM:140750"
ORIGIN      
        1 mtmtanknss ithgaggtka prgtlsrsqs vspppvlspp rspiyplsds etsacrypsh
       61 sssrvllkdr hppapspqnp qdpspdtspp tcpfktasfg yldrspsack rdaqkesvqg
      121 aaqdvagvaa clplaqstpf pgpaagprgv lltrtgtrah slgirekisa wegrreaspr
      181 msmcgekreg sgsewaaseg cpslgcpsvv pspcssektf dfkglrrmsr tfsecsypet
      241 eeegealpvr dsfyrlekrl grsepsaflr ghgsrkessa vlsriqkieq vlkeqpgrgl
      301 pqlpsscysv drgkrktgtl gsleepagga svsagsravg vagvageagp pperegsgst
      361 kpgtpgnsps sqrlpskssl dpavnpvpkp krtfeyeadk npkskpsngl ppsptpaapp
      421 plpstpappv trrpkkdmrg hrksqsrksf efedasslqs lypsspteng tenqpkfgsk
      481 stleenayed ivgdlpkenp yedvdlksrr agrksqqlse nsldslhrmw spqdrkynsp
      541 ptqlslkpns qslrsgnwse rkshrlprlp krhshddmll laqlslpssp sslnedslst
      601 tsellssrra rripklvqri nsiynakrgk krlkklsmss ietaslrden sesesdsddr
      661 fkahtqrlvh iqsmlkraps yrtlelelle wqerelfeyf vvvslkkkps rntylpevsy
      721 qfpkldrptk qmreaeerlk aipqfcfpda kdwlpvseys setfsfmltg edgsrrfgyc
      781 rrllpsgkgp rlpevycvis rlgcfglfsk vldeverrrg isaalvypfm rslmespfpa
      841 pgktikvktf lpgagnevle lrrpmdsrle hvdfeclftc lsvrqlirif aslllerrvi
      901 fvadklstls scshavvall ypfswqhtfi pvlpasmidi vccptpflvg llssslpklk
      961 elpveealmv nlgsdrfirq mddedtllpr klqaaleqal erknelisqd sdsdsddecn
     1021 tlnglvsevf irffvetvgh yslfltqsek gerafqreaf rksvasksir rflevfmesq
     1081 mfagfiqdre lrkcrakglf eqrveqylee lpdteqsgmn kflrglgnkm kflhkkn
//
LOCUS       NP_001362827             446 aa            linear   PRI 28-DEC-2022
DEFINITION  coiled-coil domain-containing protein 112 isoform 2 [Homo sapiens].
ACCESSION   NP_001362827
VERSION     NP_001362827.1
DBSOURCE    REFSEQ: accession NM_001375898.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 446)
  AUTHORS   Wang M, Liu X, Chang G, Chen Y, An G, Yan L, Gao S, Xu Y, Cui Y,
            Dong J, Chen Y, Fan X, Hu Y, Song K, Zhu X, Gao Y, Yao Z, Bian S,
            Hou Y, Lu J, Wang R, Fan Y, Lian Y, Tang W, Wang Y, Liu J, Zhao L,
            Wang L, Liu Z, Yuan R, Shi Y, Hu B, Ren X, Tang F, Zhao XY and Qiao
            J.
  TITLE     Single-Cell RNA Sequencing Analysis Reveals Sequential Cell Fate
            Transition during Human Spermatogenesis
  JOURNAL   Cell Stem Cell 23 (4), 599-614 (2018)
   PUBMED   30174296
REFERENCE   2  (residues 1 to 446)
  AUTHORS   Gupta GD, Coyaud E, Goncalves J, Mojarad BA, Liu Y, Wu Q,
            Gheiratmand L, Comartin D, Tkach JM, Cheung SW, Bashkurov M,
            Hasegan M, Knight JD, Lin ZY, Schueler M, Hildebrandt F, Moffat J,
            Gingras AC, Raught B and Pelletier L.
  TITLE     A Dynamic Protein Interaction Landscape of the Human
            Centrosome-Cilium Interface
  JOURNAL   Cell 163 (6), 1484-1499 (2015)
   PUBMED   26638075
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008494.8.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.130263.1,
                                           SRR14038195.283664.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..446
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.3"
     Protein         1..446
                     /product="coiled-coil domain-containing protein 112
                     isoform 2"
                     /note="coiled-coil domain-containing protein 112; mutated
                     in bladder cancer 1; mutated in bladder cancer protein 1"
                     /calculated_mol_wt=53434
     Region          <177..>396
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          253..272
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEF3.2)"
     Region          390..430
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEF3.2)"
     CDS             1..446
                     /gene="CCDC112"
                     /gene_synonym="MBC1"
                     /coded_by="NM_001375898.1:239..1579"
                     /note="isoform 2 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS4117.1"
                     /db_xref="GeneID:153733"
                     /db_xref="HGNC:HGNC:28599"
ORIGIN      
        1 mekdkhshfy nqksdfrieh smleelenkl ihsrkterak iqqqlakihn nvkklqhqlk
       61 dvkptpdfve klremmeeie naintfkeeq rliyeelike ekttnnelsa isrkidtwal
      121 gnsetekafr aisskvpvdk vtpstlpeev ldfekflqqt ggrqgawddy dhqnfvkvrn
      181 khkgkptfme evlehlpgkt qdevqqhekw yqkflaleer kkesiqiwkt kkqqkreeif
      241 klkekadntp vlfhnkqedn qkqkeeqrkk qklaveawkk qksiemsmkc asqlkeeeek
      301 ekkhqkerqr qfklkllles ytqqkkeqee flrlekeire kaekaekrkn aadeisrfqe
      361 rdlhklelki ldrqakedek sqkqrrlakl kekvennvsr dpsrlykptk gweertkkig
      421 ptgsgpllhi phraiptwrq giqrrv
//
LOCUS       NP_001371277             327 aa            linear   PRI 28-DEC-2022
DEFINITION  mitochondrial ribosome-associated GTPase 2 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001371277
VERSION     NP_001371277.1
DBSOURCE    REFSEQ: accession NM_001384348.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 327)
  AUTHORS   Cipullo M, Pearce SF, Lopez Sanchez IG, Gopalakrishna S, Kruger A,
            Schober F, Busch JD, Li X, Wredenberg A, Atanassov I and Rorbach J.
  TITLE     Human GTPBP5 is involved in the late stage of mitoribosome large
            subunit assembly
  JOURNAL   Nucleic Acids Res 49 (1), 354-370 (2021)
   PUBMED   33283228
  REMARK    GeneRIF: Human GTPBP5 is involved in the late stage of mitoribosome
            large subunit assembly.
REFERENCE   2  (residues 1 to 327)
  AUTHORS   Maiti P, Antonicka H, Gingras AC, Shoubridge EA and Barrientos A.
  TITLE     Human GTPBP5 (MTG2) fuels mitoribosome large subunit maturation by
            facilitating 16S rRNA methylation
  JOURNAL   Nucleic Acids Res 48 (14), 7924-7943 (2020)
   PUBMED   32652011
  REMARK    GeneRIF: Human GTPBP5 (MTG2) fuels mitoribosome large subunit
            maturation by facilitating 16S rRNA methylation.
REFERENCE   3  (residues 1 to 327)
  AUTHORS   Kotani T, Akabane S, Takeyasu K, Ueda T and Takeuchi N.
  TITLE     Human G-proteins, ObgH1 and Mtg1, associate with the large
            mitochondrial ribosome subunit and are involved in translation and
            assembly of respiratory complexes
  JOURNAL   Nucleic Acids Res 41 (6), 3713-3722 (2013)
   PUBMED   23396448
  REMARK    GeneRIF: The results suggested that ObgH1 functions with the large
            subunit of the mitochondrial ribosome, and are involved in both the
            translation and assembly of respiratory complexes.
REFERENCE   4  (residues 1 to 327)
  AUTHORS   Solomon BD, Pineda-Alvarez DE, Hadley DW, Keaton AA, Agochukwu NB,
            Raam MS, Carlson-Donohoe HE, Kamat A and Chandrasekharappa SC.
  TITLE     De novo deletion of chromosome 20q13.33 in a patient with
            tracheo-esophageal fistula, cardiac defects and genitourinary
            anomalies implicates GTPBP5 as a candidate gene
  JOURNAL   Birth Defects Res A Clin Mol Teratol 91 (9), 862-865 (2011)
   PUBMED   21608104
  REMARK    GeneRIF: GTPBP5 bears further study as a cause of TEF/EA
            accompanied by other malformations.
REFERENCE   5  (residues 1 to 327)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP,
            Troyer JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 327)
  AUTHORS   Hirano Y, Ohniwa RL, Wada C, Yoshimura SH and Takeyasu K.
  TITLE     Human small G proteins, ObgH1, and ObgH2, participate in the
            maintenance of mitochondria and nucleolar architectures
  JOURNAL   Genes Cells 11 (11), 1295-1304 (2006)
   PUBMED   17054726
  REMARK    GeneRIF: Knock-down of ObgH1 by RNAi induced mitochondria
            elongation, whereas knock-down of ObgH2 resulted in the
            disorganization of the nucleolar architecture.
REFERENCE   7  (residues 1 to 327)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   8  (residues 1 to 327)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL078633.32.
            
            Summary: Small G proteins, such as GTPBP5, act as molecular
            switches that play crucial roles in the regulation of fundamental
            cellular processes such as protein synthesis, nuclear transport,
            membrane trafficking, and signal transduction (Hirano et al., 2006
            [PubMed 17054726]).[supplied by OMIM, Mar 2008].
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2142348,
                              SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     Protein         1..327
                     /product="mitochondrial ribosome-associated GTPase 2
                     isoform 3"
                     /note="protein obg homolog 1; GTP binding protein 5
                     (putative); GTP-binding protein 5"
                     /calculated_mol_wt=34406
     Region          72..>271
                     /region_name="Obg_CgtA"
                     /note="Obg family GTPase CgtA; TIGR02729"
                     /db_xref="CDD:274271"
     CDS             1..327
                     /gene="MTG2"
                     /gene_synonym="dJ1005F21.2; GTPBP5; ObgH1"
                     /coded_by="NM_001384348.1:36..1019"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:26164"
                     /db_xref="HGNC:HGNC:16239"
                     /db_xref="MIM:610919"
ORIGIN      
        1 maparcfsar lrtvfqgvgh walstwaglk psrllpqras prllsvgrad lakhqelpgk
       61 kllsekklkr yfvdyrrvlv cggnggagas cfhseprkef ggpdggdggn gghvilrvdq
      121 qvkslssvls ryqgfsgedg gskncfgrsg avlyirvpvg tlvkeggrvv adlscvgdey
      181 iaalggaggk gnrfflannn rapvtctpgq pgqqrvlhle lktvahagmv gfpnagkssl
      241 lraisnarpa vasypfttlk phvgivhyeg hlqiagrhkg fcgvapglta liipgfhlda
      301 lageaqdalw ldpcteppaq pprglkp
//
LOCUS       NP_001365128            1403 aa            linear   PRI 29-DEC-2022
DEFINITION  roundabout homolog 2 isoform 15 [Homo sapiens].
ACCESSION   NP_001365128 XP_016862490
VERSION     NP_001365128.1
DBSOURCE    REFSEQ: accession NM_001378199.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1403)
  AUTHORS   Miyaguchi M, Nakanishi Y, Maturana AD, Mizutani K and Niimi T.
  TITLE     Conformational Change of the Hairpin-like-structured Robo2
            Ectodomain Allows NELL1/2 Binding
  JOURNAL   J Mol Biol 434 (19), 167777 (2022)
   PUBMED   35940226
  REMARK    GeneRIF: Conformational Change of the Hairpin-like-structured Robo2
            Ectodomain Allows NELL1/2 Binding.
REFERENCE   2  (residues 1 to 1403)
  AUTHORS   Quiat D, Kim SW, Zhang Q, Morton SU, Pereira AC, DePalma SR,
            Willcox JAL, McDonough B, DeLaughter DM, Gorham JM, Curran JJ,
            Tumblin M, Nicolau Y, Artunduaga MA, Quintanilla-Dieck L, Osorno G,
            Serrano L, Hamdan U, Eavey RD, Seidman CE and Seidman JG.
  TITLE     An ancient founder mutation located between ROBO1 and ROBO2 is
            responsible for increased microtia risk in Amerindigenous
            populations
  JOURNAL   Proc Natl Acad Sci U S A 119 (21), e2203928119 (2022)
   PUBMED   35584116
  REMARK    GeneRIF: An ancient founder mutation located between ROBO1 and
            ROBO2 is responsible for increased microtia risk in Amerindigenous
            populations.
REFERENCE   3  (residues 1 to 1403)
  AUTHORS   Ding C, Li Y, Wang S, Xing C, Chen L, Zhang H, Wang Y and Dai M.
  TITLE     ROBO2 hampers malignant biological behavior and predicts a better
            prognosis in pancreatic adenocarcinoma
  JOURNAL   Scand J Gastroenterol 56 (8), 955-964 (2021)
   PUBMED   34148491
  REMARK    GeneRIF: ROBO2 hampers malignant biological behavior and predicts a
            better prognosis in pancreatic adenocarcinoma.
REFERENCE   4  (residues 1 to 1403)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 1403)
  AUTHORS   Prescott J, Thompson DJ, Kraft P, Chanock SJ, Audley T, Brown J,
            Leyland J, Folkerd E, Doody D, Hankinson SE, Hunter DJ, Jacobs KB,
            Dowsett M, Cox DG, Easton DF and De Vivo I.
  TITLE     Genome-wide association study of circulating estradiol,
            testosterone, and sex hormone-binding globulin in postmenopausal
            women
  JOURNAL   PLoS One 7 (6), e37815 (2012)
   PUBMED   22675492
REFERENCE   6  (residues 1 to 1403)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (residues 1 to 1403)
  AUTHORS   Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson
            H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan
            V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA,
            Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton
            CC and Maas RL.
  TITLE     Disruption of ROBO2 is associated with urinary tract anomalies and
            confers risk of vesicoureteral reflux
  JOURNAL   Am J Hum Genet 80 (4), 616-632 (2007)
   PUBMED   17357069
  REMARK    GeneRIF: Disruption of ROBO2 is associated with urinary tract
            anomalies and confers risk of vesicoureteral reflux.
REFERENCE   8  (residues 1 to 1403)
  AUTHORS   Yue Y, Grossmann B, Galetzka D, Zechner U and Haaf T.
  TITLE     Isolation and differential expression of two isoforms of the
            ROBO2/Robo2 axon guidance receptor gene in humans and mice
  JOURNAL   Genomics 88 (6), 772-778 (2006)
   PUBMED   16829019
  REMARK    GeneRIF: two differentially expressed isoforms were isolated and
            identified. Exons 1 and 2 of human ROBO2a lie in an inherently
            unstable DNA segment at human chromosome 3p12.3.
REFERENCE   9  (residues 1 to 1403)
  AUTHORS   Hivert B, Liu Z, Chuang CY, Doherty P and Sundaresan V.
  TITLE     Robo1 and Robo2 are homophilic binding molecules that promote
            axonal growth
  JOURNAL   Mol Cell Neurosci 21 (4), 534-545 (2002)
   PUBMED   12504588
REFERENCE   10 (residues 1 to 1403)
  AUTHORS   Kidd T, Brose K, Mitchell KJ, Fetter RD, Tessier-Lavigne M, Goodman
            CS and Tear G.
  TITLE     Roundabout controls axon crossing of the CNS midline and defines a
            novel subfamily of evolutionarily conserved guidance receptors
  JOURNAL   Cell 92 (2), 205-215 (1998)
   PUBMED   9458045
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067717.19, AC117515.8,
            AC117516.5 and AC133040.3.
            On Jan 31, 2020 this sequence version replaced XP_016862490.1.
            
            Summary: The protein encoded by this gene belongs to the ROBO
            family, part of the immunoglobulin superfamily of proteins that are
            highly conserved from fly to human. The encoded protein is a
            transmembrane receptor for the slit homolog 2 protein and functions
            in axon guidance and cell migration. Mutations in this gene are
            associated with vesicoureteral reflux, characterized by the
            backward flow of urine from the bladder into the ureters or the
            kidney. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Feb 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2142853,
                              SAMEA2146982 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1403
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p12.3"
     Protein         1..1403
                     /product="roundabout homolog 2 isoform 15"
                     /note="roundabout, axon guidance receptor, homolog 2"
                     /calculated_mol_wt=153921
     Region          54..152
                     /region_name="IgC_1_Robo"
                     /note="First immunoglobulin (Ig)-like constant domain in
                     Robo (roundabout) receptors, and similar domains; cd07693"
                     /db_xref="CDD:409490"
     Region          54..58
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409490"
     Site            order(58,61,70,72,74,76,116..117)
                     /site_type="other"
                     /note="Slit binding interface [polypeptide binding]"
                     /db_xref="CDD:409490"
     Region          61..66
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409490"
     Region          70..78
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409490"
     Region          84..89
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409490"
     Region          92..94
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409490"
     Region          105..108
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409490"
     Region          111..117
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409490"
     Region          129..137
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409490"
     Region          140..152
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409490"
     Region          159..244
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          173..177
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          187..191
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          209..213
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          223..228
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          237..240
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          251..333
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          265..269
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          278..282
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          299..303
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          313..318
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          326..329
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          342..439
                     /region_name="IgI_4_Robo"
                     /note="Fourth immunoglobulin (Ig)-like domain in Robo
                     (roundabout) receptors; member of the I-set of Ig
                     superfamily (IgSF) domains; cd05726"
                     /db_xref="CDD:409391"
     Region          342..346
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409391"
     Region          348..352
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409391"
     Region          358..366
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409391"
     Region          369..376
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409391"
     Region          378..381
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409391"
     Region          394..399
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409391"
     Region          401..408
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409391"
     Region          414..423
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409391"
     Region          425..436
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409391"
     Region          446..532
                     /region_name="IgI_5_Robo"
                     /note="Fifth Ig-like domain of Roundabout (Robo) homolog
                     1/2, and similar domains; a member of the I-set of IgSF
                     domains; cd20952"
                     /db_xref="CDD:409544"
     Region          446..449
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409544"
     Region          453..456
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409544"
     Region          462..469
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409544"
     Region          475..480
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409544"
     Region          482..484
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409544"
     Region          491..495
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409544"
     Region          498..503
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409544"
     Region          511..519
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409544"
     Region          522..532
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409544"
     Region          549..642
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(549,614,629)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(630..631,633..634)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          673..758
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(747..748,750..751)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          767..859
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(767,833,848)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(849..850,852..853)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..1403
                     /gene="ROBO2"
                     /gene_synonym="SAX3"
                     /coded_by="NM_001378199.1:409..4620"
                     /note="isoform 15 is encoded by transcript variant 15"
                     /db_xref="CCDS:CCDS93317.1"
                     /db_xref="GeneID:6092"
                     /db_xref="HGNC:HGNC:10250"
                     /db_xref="MIM:602431"
ORIGIN      
        1 mlssekveki trlellfvlm lflsgptlsk ltrtpwkgkp wkggsrlrqe dfpprivehp
       61 sdvivskgep ttlnckaegr ptptiewykd gervetdkdd prshrmllps gslfflrivh
      121 grrskpdegs yvcvarnylg eavsrnasle vallrddfrq nptdvvvaag epailecqpp
      181 rghpeptiyw kkdkvriddk eerisirggk lmisntrksd agmytcvgtn mvgerdsdpa
      241 eltvferptf lrrpinqvvl eeeavefrcq vqgdpqptvr wkkddadlpr grydikddyt
      301 lrikktmstd egtymciaen rvgkmeasat ltvrarpvap pqfvvrprdq ivaqgrtvtf
      361 pcetkgnpqp avfwqkegsq nllfpnqpqq pnsrcsvspt gdltitniqr sdagyyicqa
      421 ltvagsilak aqlevtdvlt drpppiilqg panqtlavdg tallkckatg dplpviswlk
      481 egftfpgrdp ratiqeqgtl qiknlrisdt gtytcvatss sgetswsavl dvtesgatis
      541 knydlsdlpg ppskpqvtdv tknsvtlswq pgtpgtlpas ayiieafsqs vsnswqtvan
      601 hvkttlytvr glrpntiylf mvrainpqgl sdpspmsdpv rtqdisppaq gvdhrqvqke
      661 lgdvlvrlhn pvvltpttvq vtwtvdrqpq fiqgyrvmyr qtsglqatss wqnldakvpt
      721 ersavlvnlk kgvtyeikvr pyfnefqgmd sesktvrtte eapsappqsv tvltvgsyns
      781 tsisvswdpp ppdhqngiiq eykiwclgne trfhinktvd aairsviigg lfpgiqyrve
      841 vaastsagvg vksepqpiii grrnevvite nnnsiteqit dvvkqpafia giggacwvil
      901 mgfsiwlywr rkkrkglsny avtfqrgdgg lmsngsrpgl lnagdpsypw ladswpatsl
      961 pvnnsnsgpn eignfgrgdv lppvpgqgdk tatmlsdgai yssidfttkt synsssqitq
     1021 atpyattqil hsnsihelav dlpdpqwkss iqqktdlmgf gyslpdqnkg nnggkggkkk
     1081 knknsskpqk nngstwanvp lppppvqplp gtelehyave qqengydsds wcpplpvqty
     1141 lhqgledele edddrvptpp vrgvasspai sfgqqstatl tpspreemqp mlqahldelt
     1201 rayqfdiakq twhiqsnnqp pqppvpplgy vsgalisdle tdvadddadd eeealeiprp
     1261 lraldqtpgs smdnldssvt gkaftssqrp rptspfstds ntsaalsqsq rprptkkhkg
     1321 grmdqqpalp hrregmtdee alvpyskpsf pspgghsssg tasskgstgp rktevlragh
     1381 qrnasdlldi gymgsnsqgq fte
//
LOCUS       NP_001004473             313 aa            linear   PRI 29-DEC-2022
DEFINITION  olfactory receptor 10K1 [Homo sapiens].
ACCESSION   NP_001004473
VERSION     NP_001004473.1
DBSOURCE    REFSEQ: accession NM_001004473.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 313)
  AUTHORS   Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M and
            Tokunaga K.
  TITLE     An approach based on a genome-wide association study reveals
            candidate loci for narcolepsy
  JOURNAL   Hum Genet 128 (4), 433-441 (2010)
   PUBMED   20677014
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (residues 1 to 313)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL365440.13.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641535.1/ ENSP00000493025.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..313
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     Protein         1..313
                     /product="olfactory receptor 10K1"
                     /note="olfactory receptor OR1-6"
                     /calculated_mol_wt=34948
     Site            5
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NGX5.1)"
     Region          26..301
                     /region_name="7tmA_OR10A-like"
                     /note="olfactory receptor subfamily 10A and related
                     proteins, member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15225"
                     /db_xref="CDD:320353"
     Region          26..52
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320353"
     Site            26..46
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX5.1)"
     Site            55..75
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX5.1)"
     Region          59..85
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320353"
     Site            order(81,84..85,97..102,104..105,108,153,155..159,195,
                     198..200,202..204,206..207,252,255..256,258..259,262,
                     268..269,271..273,276,279..280)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320353"
     Region          97..127
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320353"
     Site            100..120
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX5.1)"
     Region          140..161
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320353"
     Site            140..160
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX5.1)"
     Region          195..225
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320353"
     Site            198..217
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX5.1)"
     Region          232..262
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320353"
     Site            238..258
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX5.1)"
     Site            265
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8NGX5.1)"
     Region          269..294
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320353"
     Site            272..292
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX5.1)"
     CDS             1..313
                     /gene="OR10K1"
                     /gene_synonym="OR1-6"
                     /coded_by="NM_001004473.2:228..1169"
                     /db_xref="CCDS:CCDS30897.1"
                     /db_xref="GeneID:391109"
                     /db_xref="HGNC:HGNC:14693"
ORIGIN      
        1 meqvnktvvr efvvlgfssl arlqqllfvi flllylftlg tnaiiistiv ldralhtpmy
       61 fflailscse icytfvivpk mlvdllsqkk tisflgcaiq mfsflffgss hsfllaamgy
      121 drymaicnpl rysvlmghgv cmglmaaaca cgftvslvtt slvfhlpfhs snqlhhffcd
      181 ispvlklasq hsgfsqlvif mlgvfalvip lllilvsyir iisailkips svgryktfst
      241 cashlivvtv hyscasfiyl rpktnytssq dtlisvsyti ltplfnpmiy slrnkefksa
      301 lrrtigqtfy pls
//
LOCUS       NP_001276020             782 aa            linear   PRI 30-DEC-2022
DEFINITION  zinc finger MYM-type protein 1 isoform b [Homo sapiens].
ACCESSION   NP_001276020
VERSION     NP_001276020.1
DBSOURCE    REFSEQ: accession NM_001289091.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 782)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL607089.16.
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream start codon, compared to variant 1. The encoded isoform
            (b) has a shorter N-terminus than isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK096206.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..782
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     Protein         1..782
                     /product="zinc finger MYM-type protein 1 isoform b"
                     /note="zinc finger, MYM domain containing 1; zinc finger
                     MYM-type protein 1; zinc finger, MYM-type 1"
                     /calculated_mol_wt=89389
     Region          92..171
                     /region_name="ZnF_TTF"
                     /note="zinc finger in transposases and transcription
                     factors; smart00597"
                     /db_xref="CDD:214739"
     Region          134..367
                     /region_name="DUF4371"
                     /note="Domain of unknown function (DUF4371); pfam14291"
                     /db_xref="CDD:405048"
     Region          669..758
                     /region_name="Dimer_Tnp_hAT"
                     /note="hAT family C-terminal dimerization region;
                     pfam05699"
                     /db_xref="CDD:399013"
     CDS             1..782
                     /gene="ZMYM1"
                     /gene_synonym="MYM"
                     /coded_by="NM_001289091.2:1331..3679"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="GeneID:79830"
                     /db_xref="HGNC:HGNC:26253"
ORIGIN      
        1 mntdvlqdtv ssvtatadvi vdlsksspse psnavassst eqpsvspsss vfsqhaigss
       61 tevqkdnmks mkisdelchp kctskvqkvk gksrsikksc cadfeclens kkdvafcysc
      121 qlfcqkyfsc gresfathgt snwkktlekf rkheksemhl kslefwreyq fcdgavsddl
      181 sihskqiegn kkylkliien ilflgkqclp lrgndqsvss vnkgnflell emrakdkgee
      241 tfrlmnsqvd fynstqiqsd iieiikteml qdivneinds safsiicdet insamkeqls
      301 icvrypqkss kailikerfl gfvdteemtg thlhrtikty lqqigvdmdk ihgqaydstt
      361 nlkikfnkia aefkkeepra lyihcyahfl dlsiirfcke vkelrsalkt lsslfnticm
      421 sgemlanfrn iyrlsqnktc kkhisqscwt vhdrtllsvi dslpeiietl eviashssnt
      481 sfadelshll tlvskfefvf clkflyrvls vtgilskelq nktidifsls skieailecl
      541 sserndvyfk tiwdgteeic qkitckgfkv ekpslqkrrk iqksvdlgns dnmffptste
      601 eqykiniyyq gldtilqnlk lcfsefdyck ikqisellfk wneplnetta khvqefykld
      661 ediipelrfy rhyaklnfvi ddscinfvsl gclfiqhglh snipclskll yialswpits
      721 astensfstl prlktylcnt mgqekltgpa lmaveqelvn klmeperlne ivekfisqmk
      781 ei
//
LOCUS       NP_001338312             573 aa            linear   PRI 30-DEC-2022
DEFINITION  dystrobrevin beta isoform 17 [Homo sapiens].
ACCESSION   NP_001338312
VERSION     NP_001338312.1
DBSOURCE    REFSEQ: accession NM_001351383.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 573)
  AUTHORS   Prokopenko D, Lee S, Hecker J, Mullin K, Morgan S, Katsumata Y,
            Weiner MW, Fardo DW, Laird N, Bertram L, Hide W, Lange C and Tanzi
            RE.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative (ADNI)
  TITLE     Region-based analysis of rare genomic variants in whole-genome
            sequencing datasets reveal two novel Alzheimer's disease-associated
            genes: DTNB and DLG2
  JOURNAL   Mol Psychiatry 27 (4), 1963-1969 (2022)
   PUBMED   35246634
  REMARK    GeneRIF: Region-based analysis of rare genomic variants in
            whole-genome sequencing datasets reveal two novel Alzheimer's
            disease-associated genes: DTNB and DLG2.
REFERENCE   2  (residues 1 to 573)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 573)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (residues 1 to 573)
  AUTHORS   Quaranta MT, Spinello I, Paolillo R, Macchia G, Boe A, Ceccarini M,
            Labbaye C and Macioce P.
  TITLE     Identification of beta-Dystrobrevin as a Direct Target of miR-143:
            Involvement in Early Stages of Neural Differentiation
  JOURNAL   PLoS One 11 (5), e0156325 (2016)
   PUBMED   27223470
  REMARK    GeneRIF: Data provide new insights into the role of
            beta-dystrobrevin in the molecular mechanisms underlying neuronal
            differentiation that could be relevant in the establishment of the
            cognitive impairment in Duchene muscular dystrophy.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 573)
  AUTHORS   Cai DC, Fonteijn H, Guadalupe T, Zwiers M, Wittfeld K, Teumer A,
            Hoogman M, Arias-Vasquez A, Yang Y, Buitelaar J, Fernandez G,
            Brunner HG, van Bokhoven H, Franke B, Hegenscheid K, Homuth G,
            Fisher SE, Grabe HJ, Francks C and Hagoort P.
  TITLE     A genome-wide search for quantitative trait loci affecting the
            cortical surface area and thickness of Heschl's gyrus
  JOURNAL   Genes Brain Behav 13 (7), 675-685 (2014)
   PUBMED   25130324
REFERENCE   6  (residues 1 to 573)
  AUTHORS   Piluso G, Mirabella M, Ricci E, Belsito A, Abbondanza C, Servidei
            S, Puca AA, Tonali P, Puca GA and Nigro V.
  TITLE     Gamma1- and gamma2-syntrophins, two novel dystrophin-binding
            proteins localized in neuronal cells
  JOURNAL   J Biol Chem 275 (21), 15851-15860 (2000)
   PUBMED   10747910
REFERENCE   7  (residues 1 to 573)
  AUTHORS   Blake DJ, Hawkes R, Benson MA and Beesley PW.
  TITLE     Different dystrophin-like complexes are expressed in neurons and
            glia
  JOURNAL   J Cell Biol 147 (3), 645-658 (1999)
   PUBMED   10545507
REFERENCE   8  (residues 1 to 573)
  AUTHORS   Puca AA, Nigro V, Piluso G, Belsito A, Sampaolo S, Quaderi N, Rossi
            E, Di Iorio G, Ballabio A and Franco B.
  TITLE     Identification and characterization of a novel member of the
            dystrobrevin gene family
  JOURNAL   FEBS Lett 425 (1), 7-13 (1998)
   PUBMED   9540997
REFERENCE   9  (residues 1 to 573)
  AUTHORS   Peters MF, O'Brien KF, Sadoulet-Puccio HM, Kunkel LM, Adams ME and
            Froehner SC.
  TITLE     beta-dystrobrevin, a new member of the dystrophin family.
            Identification, cloning, and protein associations
  JOURNAL   J Biol Chem 272 (50), 31561-31569 (1997)
   PUBMED   9395493
REFERENCE   10 (residues 1 to 573)
  AUTHORS   Straub V and Campbell KP.
  TITLE     Muscular dystrophies and the dystrophin-glycoprotein complex
  JOURNAL   Curr Opin Neurol 10 (2), 168-175 (1997)
   PUBMED   9146999
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010150.3, AC019144.9,
            AC104699.2 and AC012074.9.
            
            Summary: This gene encodes dystrobrevin beta, a component of the
            dystrophin-associated protein complex (DPC). The DPC consists of
            dystrophin and several integral and peripheral membrane proteins,
            including dystroglycans, sarcoglycans, syntrophins and dystrobrevin
            alpha and beta. The DPC localizes to the sarcolemma and its
            disruption is associated with various forms of muscular dystrophy.
            Dystrobrevin beta is thought to interact with syntrophin and the
            DP71 short form of dystrophin. [provided by RefSeq, Mar 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..573
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     Protein         1..573
                     /product="dystrobrevin beta isoform 17"
                     /note="DTN-B; beta-dystrobrevin"
                     /calculated_mol_wt=65182
     Region          54..214
                     /region_name="EFh_DTN"
                     /note="EF-hand-like motif found in dystrobrevins and
                     similar proteins; cd16244"
                     /db_xref="CDD:320002"
     Region          54..95
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320002"
     Region          104..138
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320002"
     Region          144..180
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320002"
     Region          191..214
                     /region_name="EF-hand-like motif"
                     /note="EF-hand-like motif [structural motif]"
                     /db_xref="CDD:320002"
     Region          241..289
                     /region_name="ZZ_dystrophin"
                     /note="Zinc finger, ZZ type. Zinc finger present in
                     dystrophin and dystrobrevin. The ZZ motif coordinates two
                     zinc ions and most likely participates in ligand binding
                     or molecular scaffolding. Dystrophin attaches actin
                     filaments to an integral membrane...; cd02334"
                     /db_xref="CDD:239074"
     Site            order(243,246,258,261,267,270,280,284)
                     /site_type="other"
                     /note="Zinc-binding sites [ion binding]"
                     /db_xref="CDD:239074"
     Site            order(243,246,267,270)
                     /site_type="other"
                     /note="zinc cluster 1 [ion binding]"
                     /db_xref="CDD:239074"
     Site            order(244,255,257,263,265)
                     /site_type="active"
                     /note="putative charged binding surface [active]"
                     /db_xref="CDD:239074"
     Site            order(256,271,286,289)
                     /site_type="active"
                     /note="putative hydrophobic binding surface [active]"
                     /db_xref="CDD:239074"
     Site            order(258,261,280,284)
                     /site_type="other"
                     /note="zinc cluster 2 [ion binding]"
                     /db_xref="CDD:239074"
     Region          <401..>503
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..573
                     /gene="DTNB"
                     /coded_by="NM_001351383.2:194..1915"
                     /note="isoform 17 is encoded by transcript variant 17"
                     /db_xref="GeneID:1838"
                     /db_xref="HGNC:HGNC:3058"
                     /db_xref="MIM:602415"
ORIGIN      
        1 mieesgnkrk tmaekrqlfi emraqnfdvi rlstyrtack lrfvqkrcnl hlvdiwnmie
       61 afrdnglntl dhtteisvsr letvissiyy qlnkrlpsth qisveqsisl llnfmiaayd
      121 segrgkltvf svkamlatmc ggkmldklry vfsqmsdsng lmifskfdqf lkevlklpta
      181 vfegpsfgyt ehsvrtcfpq qrkimlnmfl dtmmadpppq clvwlplmhr lahvenvfhp
      241 vecsycrces mmgfryrcqq chnyqlcqnc fwrghaggph snqhqmkehs swkspakkls
      301 haiskslgcv ptrepphpvf peqpekpldl ahivpprplt nmndtmvshm ssgvptptks
      361 vldspsrlde ehrliaryaa rlaaeagnvt rpptdlsfnf dankqqrqli aelenknrei
      421 lqeiqrlrle heqasqptpe kaqqnptlla elrllrllvl drqrkdeleq rmsalqesrr
      481 elmvqleelm kllkeeeqkq aaqatgspht spthgggrpm pmpvrstsag stpthcpqds
      541 lsgvggdvqe afaqaeegae eeeekmqngk drg
//
LOCUS       NP_057511                753 aa            linear   PRI 30-DEC-2022
DEFINITION  elongin-A2 [Homo sapiens].
ACCESSION   NP_057511
VERSION     NP_057511.2
DBSOURCE    REFSEQ: accession NM_016427.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 753)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 753)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 753)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   4  (residues 1 to 753)
  AUTHORS   Aso T, Yamazaki K, Amimoto K, Kuroiwa A, Higashi H, Matsuda Y,
            Kitajima S and Hatakeyama M.
  TITLE     Identification and characterization of Elongin A2, a new member of
            the Elongin family of transcription elongation factors,
            specifically expressed in the testis
  JOURNAL   J Biol Chem 275 (9), 6546-6552 (2000)
   PUBMED   10692460
REFERENCE   5  (residues 1 to 753)
  AUTHORS   Aso T, Lane WS, Conaway JW and Conaway RC.
  TITLE     Elongin (SIII): a multisubunit regulator of elongation by RNA
            polymerase II
  JOURNAL   Science 269 (5229), 1439-1443 (1995)
   PUBMED   7660129
REFERENCE   6  (residues 1 to 753)
  AUTHORS   Bradsher JN, Jackson KW, Conaway RC and Conaway JW.
  TITLE     RNA polymerase II transcription factor SIII. I. Identification,
            purification, and properties
  JOURNAL   J Biol Chem 268 (34), 25587-25593 (1993)
   PUBMED   8244996
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012254.12, BC036022.1 and
            AB030834.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 15, 2004 this sequence version replaced NP_057511.1.
            
            Summary: This gene encodes the transcriptionally active subunit of
            the SIII (or elongin) transcription elongation factor complex,
            which also includes two regulatory subunits, elongins B and C. This
            complex acts to increase the rate of RNA chain elongation by RNA
            polymerase II by suppressing transient pausing of the polymerase at
            many sites along the DNA template. Whereas a related protein with
            similar function, elongin A, is ubiquitously expressed, the encoded
            protein is specifically expressed in the testis, suggesting it may
            have a role in spermatogenesis. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC036022.1, AB030834.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332567.6/ ENSP00000331302.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..753
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     Protein         1..753
                     /product="elongin-A2"
                     /note="transcription elongation factor (SIII) elongin A2
                     elongin A2; RNA polymerase II transcription factor SIII
                     subunit A2; transcription elongation factor B subunit 3B;
                     transcription elongation factor B polypeptide 3B"
                     /calculated_mol_wt=83790
     Region          8..77
                     /region_name="TFS2N"
                     /note="Domain in the N-terminus of transcription
                     elongation factor S-II (and elsewhere); smart00509"
                     /db_xref="CDD:197766"
     Site            order(12..13,16,57..58)
                     /site_type="other"
                     /note="putative RNA polymerase binding site [polypeptide
                     binding]"
                     /db_xref="CDD:238107"
     Region          80..245
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYF1.2)"
     Region          <81..>205
                     /region_name="dnaA"
                     /note="chromosomal replication initiator protein DnaA;
                     cl42516"
                     /db_xref="CDD:455861"
     Region          261..453
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYF1.2)"
     Region          477..497
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYF1.2)"
     Region          500..659
                     /region_name="Activation domain. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYF1.2)"
     Region          528..537
                     /region_name="BC-box.
                     /evidence=ECO:0000250|UniProtKB:Q63187"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYF1.2)"
     Region          528..537
                     /region_name="Interacting with Elongin BC complex.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYF1.2)"
     Region          544..642
                     /region_name="Elongin_A"
                     /note="RNA polymerase II transcription factor SIII
                     (Elongin) subunit A; pfam06881"
                     /db_xref="CDD:429170"
     Region          650..735
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYF1.2)"
     CDS             1..753
                     /gene="ELOA2"
                     /gene_synonym="HsT832; TCEB3B; TCEB3L"
                     /coded_by="NM_016427.3:358..2619"
                     /db_xref="CCDS:CCDS11932.1"
                     /db_xref="GeneID:51224"
                     /db_xref="HGNC:HGNC:30771"
                     /db_xref="MIM:609522"
ORIGIN      
        1 maagsttlha veklqvrlat ktepkkleky lqklsalpmt adilaetgir ktvkrlrkhq
       61 hvgdfardla arwkklvlvd rntrpgpqdp eesasrqrfg ealqdqekaw gfpenatapr
      121 spshspehrr tarrtppgqq rphprshsre praerkcpri apadsgryra sptrtaplrm
      181 pegpepaapg kqpgrghtha aqggpllcpg cqgqpqgkav vshskghkss rqekrplcaq
      241 gdwhsptlir ekscgaclre etprmpswas ardrqpsdfk tdkeggqags gqrvpaleea
      301 pdshqkrpqh shsnkkrpsl dgrdpgngth glspeekeql sndretqegk pptahldrts
      361 vsslseveev dmaeefeqpt lscekyltyd qlrkqkkktg ksattalgdk qrkaneskgt
      421 reswdsakkl ppvqesqser lqaagadsag pktvpshvfs elwdlseawm qanydplsds
      481 dsmtsqakpe alsspkfree aafpgrrvna kmpvysgsrp acqlqvptlr qqcaqvlrnn
      541 pdalsdvgev pywvlepvle gwrpdqlyrr kkdnhalvre tdelrrnhcf qdfkeekpqe
      601 nktwreqylr lpdapeqrlr vmttnirsar gnnpngreak micfksvakt pydtsrrqek
      661 sagdadpeng eikpaskpag sshtpssqss sgggrdssss ilrwlpekra npclsssneh
      721 aapaaktrkq aakkvaplma kairdykrrf srr
//
LOCUS       NP_001374684             383 aa            linear   PRI 30-DEC-2022
DEFINITION  dematin isoform 2 [Homo sapiens].
ACCESSION   NP_001374684
VERSION     NP_001374684.1
DBSOURCE    REFSEQ: accession NM_001387755.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 383)
  AUTHORS   Wang M, Chen B, Zhang W, Zhang F, Qiu Y, Lin Y and Yang S.
  TITLE     Dematin inhibits glioblastoma malignancy through RhoA-mediated CDKs
            downregulation and cytoskeleton remodeling
  JOURNAL   Exp Cell Res 417 (1), 113196 (2022)
   PUBMED   35561787
  REMARK    GeneRIF: Dematin inhibits glioblastoma malignancy through
            RhoA-mediated CDKs downregulation and cytoskeleton remodeling.
REFERENCE   2  (residues 1 to 383)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 383)
  AUTHORS   Brandt GS and Bailey S.
  TITLE     Dematin, a human erythrocyte cytoskeletal protein, is a substrate
            for a recombinant FIKK kinase from Plasmodium falciparum
  JOURNAL   Mol Biochem Parasitol 191 (1), 20-23 (2013)
   PUBMED   23973789
REFERENCE   4  (residues 1 to 383)
  AUTHORS   Chen L, Brown JW, Mok YF, Hatters DM and McKnight CJ.
  TITLE     The allosteric mechanism induced by protein kinase A (PKA)
            phosphorylation of dematin (band 4.9)
  JOURNAL   J Biol Chem 288 (12), 8313-8320 (2013)
   PUBMED   23355471
  REMARK    GeneRIF: When unphosphorylated, dematin's two F-actin binding
            domains move independent of one another permitting them to bind
            different F-actin filaments.
            Erratum:[J Biol Chem. 2015 Jul 17;290(29):17808. PMID: 26188045]
REFERENCE   5  (residues 1 to 383)
  AUTHORS   Mohseni,M. and Chishti,A.H.
  TITLE     Erythrocyte dematin is a candidate gene for Marie Unna hereditary
            hypotrichosis and related hairloss disorders
  JOURNAL   Am J Hematol 83 (5), 430-432 (2008)
   PUBMED   18273904
REFERENCE   6  (residues 1 to 383)
  AUTHORS   Lutchman M, Kim AC, Cheng L, Whitehead IP, Oh SS, Hanspal M,
            Boukharov AA, Hanada T and Chishti AH.
  TITLE     Dematin interacts with the Ras-guanine nucleotide exchange factor
            Ras-GRF2 and modulates mitogen-activated protein kinase pathways
  JOURNAL   Eur J Biochem 269 (2), 638-649 (2002)
   PUBMED   11856323
REFERENCE   7  (residues 1 to 383)
  AUTHORS   Lutchman M, Pack S, Kim AC, Azim A, Emmert-Buck M, van Huffel C,
            Zhuang Z and Chishti AH.
  TITLE     Loss of heterozygosity on 8p in prostate cancer implicates a role
            for dematin in tumor progression
  JOURNAL   Cancer Genet Cytogenet 115 (1), 65-69 (1999)
   PUBMED   10565303
REFERENCE   8  (residues 1 to 383)
  AUTHORS   Azim AC, Marfatia SM, Korsgren C, Dotimas E, Cohen CM and Chishti
            AH.
  TITLE     Human erythrocyte dematin and protein 4.2 (pallidin) are ATP
            binding proteins
  JOURNAL   Biochemistry 35 (9), 3001-3006 (1996)
   PUBMED   8608138
REFERENCE   9  (residues 1 to 383)
  AUTHORS   Azim AC, Knoll JH, Beggs AH and Chishti AH.
  TITLE     Isoform cloning, actin binding, and chromosomal localization of
            human erythroid dematin, a member of the villin superfamily
  JOURNAL   J Biol Chem 270 (29), 17407-17413 (1995)
   PUBMED   7615546
REFERENCE   10 (residues 1 to 383)
  AUTHORS   Rana AP, Ruff P, Maalouf GJ, Speicher DW and Chishti AH.
  TITLE     Cloning of human erythroid dematin reveals another member of the
            villin family
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6651-6655 (1993)
   PUBMED   8341682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091171.15.
            
            Summary: The protein encoded by this gene is an actin binding and
            bundling protein that plays a structural role in erythrocytes, by
            stabilizing and attaching the spectrin/actin cytoskeleton to the
            erythrocyte membrane in a phosphorylation-dependent manner. This
            protein contains a core domain in the N-terminus, and a headpiece
            domain in the C-terminus that binds F-actin. When purified from
            erythrocytes, this protein exists as a trimer composed of two 48
            kDa polypeptides and a 52 kDa polypeptide. The different subunits
            arise from alternative splicing in the 3' coding region, where the
            headpiece domain is located. Disruption of this gene has been
            correlated with the autosomal dominant Marie Unna hereditary
            hypotrichosis disease, while loss of heterozygosity of this gene is
            thought to play a role in prostate cancer progression. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Nov 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2142680,
                              SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..383
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     Protein         1..383
                     /product="dematin isoform 2"
                     /note="erythrocyte membrane protein band 4.9 (dematin)"
                     /calculated_mol_wt=42957
     Region          8..333
                     /region_name="AbLIM_anchor"
                     /note="Putative adherens-junction anchoring region of
                     AbLIM; pfam16182"
                     /db_xref="CDD:435194"
     Region          348..383
                     /region_name="VHP"
                     /note="Villin headpiece domain; smart00153"
                     /db_xref="CDD:128458"
     CDS             1..383
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /coded_by="NM_001387755.1:274..1425"
                     /note="isoform 2 is encoded by transcript variant 65"
                     /db_xref="CCDS:CCDS47820.1"
                     /db_xref="GeneID:2039"
                     /db_xref="HGNC:HGNC:3382"
                     /db_xref="MIM:125305"
ORIGIN      
        1 merlqkqplt spgsvspsrd ssvpgspssi vakmdnqvlg ykdlaaipkd kaildierpd
       61 lmiyephfty sllehvelpr srerslspks tspppspevw adsrspgiis qasaprttgt
      121 prtslphfhh petsrpdsni ykkppiykqr esvggspqtk hliedliies skfpaaqppd
      181 pnqpakietd ywpcppslav vetewrkrka srrgaeeeee eedddsgeem kalrerqree
      241 lskvtsnlgk milkeemeks lpirrktrsl pdrtpfhtsl hqgtsksssl paygrttlsr
      301 lqstefspsg setgspglqi ypyemlvvtn kgrtklppgv drmrlerhls aedfsrvfam
      361 speefgklal wkrnelkkka slf
//
LOCUS       NP_001316402             118 aa            linear   PRI 30-DEC-2022
DEFINITION  transmembrane protein 243 isoform b [Homo sapiens].
ACCESSION   NP_001316402
VERSION     NP_001316402.1
DBSOURCE    REFSEQ: accession NM_001329473.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 118)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 118)
  AUTHORS   Rajkumar T and Yamuna M.
  TITLE     Multiple pathways are involved in drug resistance to doxorubicin in
            an osteosarcoma cell line
  JOURNAL   Anticancer Drugs 19 (3), 257-265 (2008)
   PUBMED   18510171
REFERENCE   3  (residues 1 to 118)
  AUTHORS   Duan Z, Brakora KA and Seiden MV.
  TITLE     MM-TRAG (MGC4175), a novel intracellular mitochondrial protein, is
            associated with the taxol- and doxorubicin-resistant phenotype in
            human cancer cell lines
  JOURNAL   Gene 340 (1), 53-59 (2004)
   PUBMED   15556294
  REMARK    GeneRIF: Data showed MGC4175 fused to the carboxy terminus of
            enhanced green fluorescent protein (EGFP) was localized to the
            mitochondria, and its overexpression was not caused by genomic
            amplification or gene arrangement.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB993361.1, BP236768.1, BC002837.2 and AC005076.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BP236768.1, SRR18074968.3681372.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2159912
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..118
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.12"
     Protein         1..118
                     /product="transmembrane protein 243 isoform b"
                     /note="MDR1 and mitochondrial taxol resistance associated;
                     transmembrane protein C7orf23; transmembrane protein 243,
                     mitochondrial; MDR1- and mitochondrial taxol
                     resistance-associated protein"
                     /calculated_mol_wt=13260
     Region          1..118
                     /region_name="DUF2678"
                     /note="Protein of unknown function (DUF2678); pfam10856"
                     /db_xref="CDD:431523"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9BU79.1)"
     Site            32..52
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BU79.1)"
     Site            62..82
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BU79.1)"
     Site            94..114
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BU79.1)"
     CDS             1..118
                     /gene="TMEM243"
                     /gene_synonym="C7orf23; MM-TRAG; MMTRAG"
                     /coded_by="NM_001329473.2:322..678"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS5602.1"
                     /db_xref="GeneID:79161"
                     /db_xref="HGNC:HGNC:21707"
                     /db_xref="MIM:616993"
ORIGIN      
        1 medfatrtyg tsgldnrplf getsakdrii nlvvgsltsl lilvtlisaf vfpqlppkpl
       61 niffavcisl ssitaciliy wyrqgdlepk frkliyyiif siimlcican lyfhdvgr
//
LOCUS       NP_001375036             484 aa            linear   PRI 31-DEC-2022
DEFINITION  poly(A) RNA polymerase GLD2 isoform 1 [Homo sapiens].
ACCESSION   NP_001375036
VERSION     NP_001375036.1
DBSOURCE    REFSEQ: accession NM_001388107.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 484)
  AUTHORS   Yang A, Bofill-De Ros X, Stanton R, Shao TJ, Villanueva P and Gu S.
  TITLE     TENT2, TUT4, and TUT7 selectively regulate miRNA sequence and
            abundance
  JOURNAL   Nat Commun 13 (1), 5260 (2022)
   PUBMED   36071058
  REMARK    GeneRIF: TENT2, TUT4, and TUT7 selectively regulate miRNA sequence
            and abundance.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 484)
  AUTHORS   Inagaki H, Hosoda N and Hoshino SI.
  TITLE     DDX6 is a positive regulator of Ataxin-2/PAPD4 cytoplasmic
            polyadenylation machinery
  JOURNAL   Biochem Biophys Res Commun 553, 9-16 (2021)
   PUBMED   33756349
  REMARK    GeneRIF: DDX6 is a positive regulator of Ataxin-2/PAPD4 cytoplasmic
            polyadenylation machinery.
REFERENCE   3  (residues 1 to 484)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 484)
  AUTHORS   Hojo H, Yashiro Y, Noda Y, Ogami K, Yamagishi R, Okada S, Hoshino
            SI and Suzuki T.
  TITLE     The RNA-binding protein QKI-7 recruits the poly(A) polymerase GLD-2
            for 3' adenylation and selective stabilization of microRNA-122
  JOURNAL   J Biol Chem 295 (2), 390-402 (2020)
   PUBMED   31792053
  REMARK    GeneRIF: The RNA-binding protein QKI-7 recruits the poly(A)
            polymerase GLD-2 for 3' adenylation and selective stabilization of
            microRNA-122.
REFERENCE   5  (residues 1 to 484)
  AUTHORS   Chung CZ, Balasuriya N, Manni E, Liu X, Li SS, O'Donoghue P and
            Heinemann IU.
  TITLE     Gld2 activity is regulated by phosphorylation in the N-terminal
            domain
  JOURNAL   RNA Biol 16 (8), 1022-1033 (2019)
   PUBMED   31057087
  REMARK    GeneRIF: The data demonstrate a novel phosphorylation-dependent
            mechanism to regulate Gld2 activity, revealing tumour suppressor
            miRNAs(miR-122) as a previously unknown target of Akt1-dependent
            signalling
REFERENCE   6  (residues 1 to 484)
  AUTHORS   Wyman SK, Knouf EC, Parkin RK, Fritz BR, Lin DW, Dennis LM, Krouse
            MA, Webster PJ and Tewari M.
  TITLE     Post-transcriptional generation of miRNA variants by multiple
            nucleotidyl transferases contributes to miRNA transcriptome
            complexity
  JOURNAL   Genome Res 21 (9), 1450-1461 (2011)
   PUBMED   21813625
REFERENCE   7  (residues 1 to 484)
  AUTHORS   Qi L, Menzaghi C, Salvemini L, De Bonis C, Trischitta V and Hu FB.
  TITLE     Novel locus FER is associated with serum HMW adiponectin levels
  JOURNAL   Diabetes 60 (8), 2197-2201 (2011)
   PUBMED   21700879
REFERENCE   8  (residues 1 to 484)
  AUTHORS   Glahder JA, Kristiansen K, Durand M, Vinther J and Norrild B.
  TITLE     The early noncoding region of human papillomavirus type 16 is
            regulated by cytoplasmic polyadenylation factors
  JOURNAL   Virus Res 149 (2), 217-223 (2010)
   PUBMED   20144904
  REMARK    GeneRIF: The authors show that the human CPEB1 can repress the
            activity of the reporter construct containing the HPV-16 early
            sequences. This repression can be counteracted by a human
            cytoplasmic poly(A) polymerase, hGLD-2 fused to CPEB1.
REFERENCE   9  (residues 1 to 484)
  AUTHORS   Mullen TE and Marzluff WF.
  TITLE     Degradation of histone mRNA requires oligouridylation followed by
            decapping and simultaneous degradation of the mRNA both 5' to 3'
            and 3' to 5'
  JOURNAL   Genes Dev 22 (1), 50-65 (2008)
   PUBMED   18172165
REFERENCE   10 (residues 1 to 484)
  AUTHORS   Kwak JE, Wang L, Ballantyne S, Kimble J and Wickens M.
  TITLE     Mammalian GLD-2 homologs are poly(A) polymerases
  JOURNAL   Proc Natl Acad Sci U S A 101 (13), 4407-4412 (2004)
   PUBMED   15070731
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008482.5.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.741781.1,
                                           SRR14038194.3719685.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..484
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     Protein         1..484
                     /product="poly(A) RNA polymerase GLD2 isoform 1"
                     /EC_number="2.7.7.19"
                     /note="poly(A) RNA polymerase GLD2; TUTase 2; terminal
                     uridylyltransferase 2; PAP-associated domain-containing
                     protein 4; PAP associated domain containing 4; poly(A) RNA
                     polymerase D4, non-canonical"
                     /calculated_mol_wt=55897
     Site            62
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q6PIY7.1)"
     Site            69
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q6PIY7.1)"
     Region          72..97
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PIY7.1)"
     Region          76..92
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PIY7.1)"
     Site            95
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6PIY7.1)"
     Region          154..>468
                     /region_name="TRF4"
                     /note="DNA polymerase sigma [Replication, recombination
                     and repair]; COG5260"
                     /db_xref="CDD:227585"
     CDS             1..484
                     /gene="TENT2"
                     /gene_synonym="APD4; GLD2; PAPD4; TUT2"
                     /coded_by="NM_001388107.1:502..1956"
                     /note="isoform 1 is encoded by transcript variant 26"
                     /db_xref="CCDS:CCDS4048.1"
                     /db_xref="GeneID:167153"
                     /db_xref="HGNC:HGNC:26776"
                     /db_xref="MIM:614121"
ORIGIN      
        1 mfpnsilgrp pftpnhqqhn nfftlsptvy shqqlidaqf nfqnadlsra vslqqltygn
       61 vspiqtsasp lfrgrkrlsd eknlpldgkr qrfhsphqep tvvnqivpls gerrysmppl
      121 fhthyvpdiv rcvppfreia flepreitlp eakdklsqqi lelfetcqqq isdlkkkelc
      181 rtqlqreiql lfpqsrlflv gsslngfgtr ssdgdlclvv keepcffqvn qktearhilt
      241 lvhkhfctrl sgyierpqli rakvpivkfr dkvscvefdl nvnnivgirn tfllrtyayl
      301 enrvrplvlv ikkwashhqi ndasrgtlss yslvlmvlhy lqtlpepilp slqkiypesf
      361 spaiqlhlvh qapcnvppyl sknesnlgdl llgflkyyat efdwnsqmis vreakaiprp
      421 dgiewrnkyi cveepfdgtn taravhekqk fdmikdqflk swhrlknkrd lnsilpvraa
      481 vlkr
//
LOCUS       NP_001020764             341 aa            linear   PRI 31-DEC-2022
DEFINITION  arfaptin-1 isoform 2 [Homo sapiens].
ACCESSION   NP_001020764
VERSION     NP_001020764.1
DBSOURCE    REFSEQ: accession NM_001025593.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 341)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 341)
  AUTHORS   Huang LH, Lee WC, You ST, Cheng CC and Yu CJ.
  TITLE     Arfaptin-1 negatively regulates Arl1-mediated retrograde transport
  JOURNAL   PLoS One 10 (3), e0118743 (2015)
   PUBMED   25789876
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 341)
  AUTHORS   Guo Z, Neilson LJ, Zhong H, Murray PS, Zanivan S and Zaidel-Bar R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 341)
  AUTHORS   Cruz-Garcia D, Ortega-Bellido M, Scarpa M, Villeneuve J, Jovic M,
            Porzner M, Balla T, Seufferlein T and Malhotra V.
  TITLE     Recruitment of arfaptins to the trans-Golgi network by PI(4)P and
            their involvement in cargo export
  JOURNAL   EMBO J 32 (12), 1717-1729 (2013)
   PUBMED   23695357
  REMARK    GeneRIF: The binding of arfaptin1, but not arfaptin2, to PI(4)P is
            regulated by protein kinase D (PKD) mediated phosphorylation at
            Ser100 within the AH.
REFERENCE   5  (residues 1 to 341)
  AUTHORS   Gehart H, Goginashvili A, Beck R, Morvan J, Erbs E, Formentini I,
            De Matteis MA, Schwab Y, Wieland FT and Ricci R.
  TITLE     The BAR domain protein Arfaptin-1 controls secretory granule
            biogenesis at the trans-Golgi network
  JOURNAL   Dev Cell 23 (4), 756-768 (2012)
   PUBMED   22981988
REFERENCE   6  (residues 1 to 341)
  AUTHORS   Ho WT, Exton JH and Williger BT.
  TITLE     Arfaptin 1 inhibits ADP-ribosylation factor-dependent matrix
            metalloproteinase-9 secretion induced by phorbol ester in HT 1080
            fibrosarcoma cells
  JOURNAL   FEBS Lett 537 (1-3), 91-95 (2003)
   PUBMED   12606037
  REMARK    GeneRIF: inhibits ADP-ribosylation factor-dependent matrix
            metalloproteinase-9 secretion induced by phorbol ester in
            fibrosarcoma cells
REFERENCE   7  (residues 1 to 341)
  AUTHORS   Suzuki Y, Tsunoda T, Sese J, Taira H, Mizushima-Sugano J, Hata H,
            Ota T, Isogai T, Tanaka T, Nakamura Y, Suyama A, Sakaki Y,
            Morishita S, Okubo K and Sugano S.
  TITLE     Identification and characterization of the potential promoter
            regions of 1031 kinds of human genes
  JOURNAL   Genome Res 11 (5), 677-684 (2001)
   PUBMED   11337467
REFERENCE   8  (residues 1 to 341)
  AUTHORS   Williger BT, Provost JJ, Ho WT, Milstine J and Exton JH.
  TITLE     Arfaptin 1 forms a complex with ADP-ribosylation factor and
            inhibits phospholipase D
  JOURNAL   FEBS Lett 454 (1-2), 85-89 (1999)
   PUBMED   10413101
REFERENCE   9  (residues 1 to 341)
  AUTHORS   Tsai SC, Adamik R, Hong JX, Moss J, Vaughan M, Kanoh H and Exton
            JH.
  TITLE     Effects of arfaptin 1 on guanine nucleotide-dependent activation of
            phospholipase D and cholera toxin by ADP-ribosylation factor
  JOURNAL   J Biol Chem 273 (33), 20697-20701 (1998)
   PUBMED   9694811
REFERENCE   10 (residues 1 to 341)
  AUTHORS   Kanoh H, Williger BT and Exton JH.
  TITLE     Arfaptin 1, a putative cytosolic target protein of ADP-ribosylation
            factor, is recruited to Golgi membranes
  JOURNAL   J Biol Chem 272 (9), 5421-5429 (1997)
   PUBMED   9038142
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK304141.1, BC105114.1, BC103759.1, AK299600.1, AK096509.1,
            AI634366.1 and AC099339.6.
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            central coding region, compared to variant 1. The encoded isoform
            (2) is shorter, compared to isoform 1. Variants 2, 3, and 6 encode
            the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.25923.1,
                                           SRR11853567.23516.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..341
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.3"
     Protein         1..341
                     /product="arfaptin-1 isoform 2"
                     /note="arfaptin-1"
                     /calculated_mol_wt=38468
     Region          123..323
                     /region_name="BAR_Arfaptin"
                     /note="The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin;
                     cd07660"
                     /db_xref="CDD:153344"
     Site            order(139..140,146,150,153,156..157,160,163..164,168,
                     170..171,174,177..178,181..182,184..185,188,192,290,
                     294..295,298..299,301..302,309..310,312..313)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153344"
     Site            order(145,148,151..152,155..156,158..160,162..163,197,200,
                     204,207..208)
                     /site_type="other"
                     /note="Rac binding site [polypeptide binding]"
                     /db_xref="CDD:153344"
     CDS             1..341
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /coded_by="NM_001025593.3:283..1308"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS3780.1"
                     /db_xref="GeneID:27236"
                     /db_xref="HGNC:HGNC:21496"
                     /db_xref="MIM:605928"
ORIGIN      
        1 maqespknsa aeipvtsnge vddsrehsfn rdlkhslpsg lglsetqits hgfdntkegv
       61 ieagafqggq rtqtksgpvi ladeiknpam eklelvrkws lntykctrqi iseklgrgsr
      121 tvdleleaqi dilrdnkkky enilklaqtl stqlfqmvht qrqlgdafad lslkslelhe
      181 efgynadtqk llakngetll gainffiasv ntlvnktied tlmtvkqyes arieydayrt
      241 dleelnlgpr dantlpkieq sqhlfqahke kydkmrndvs vklkfleenk vkvlhnqlvl
      301 fhnaiaayfa gnqkqleqtl kqfhiklktp gvdapswlee q
//
LOCUS       NP_001378988             770 aa            linear   PRI 31-DEC-2022
DEFINITION  janus kinase and microtubule-interacting protein 3 isoform p [Homo
            sapiens].
ACCESSION   NP_001378988 XP_016871586
VERSION     NP_001378988.1
DBSOURCE    REFSEQ: accession NM_001392059.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 770)
  AUTHORS   Kim DK, Cho MH, Hersh CP, Lomas DA, Miller BE, Kong X, Bakke P,
            Gulsvik A, Agusti A, Wouters E, Celli B, Coxson H, Vestbo J, MacNee
            W, Yates JC, Rennard S, Litonjua A, Qiu W, Beaty TH, Crapo JD,
            Riley JH, Tal-Singer R and Silverman EK.
  CONSRTM   ECLIPSE, ICGN, and COPDGene Investigators
  TITLE     Genome-wide association analysis of blood biomarkers in chronic
            obstructive pulmonary disease
  JOURNAL   Am J Respir Crit Care Med 186 (12), 1238-1247 (2012)
   PUBMED   23144326
REFERENCE   2  (residues 1 to 770)
  AUTHORS   Cruz-Garcia D, Vazquez-Martinez R, Peinado JR, Anouar Y, Tonon MC,
            Vaudry H, Castano JP and Malagon MM.
  TITLE     Identification and characterization of two novel (neuro)endocrine
            long coiled-coil proteins
  JOURNAL   FEBS Lett 581 (17), 3149-3156 (2007)
   PUBMED   17572408
REFERENCE   3  (residues 1 to 770)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe
            JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C,
            Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J,
            White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L,
            Morris JC, Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 770)
  AUTHORS   Steindler C, Li Z, Algarte M, Alcover A, Libri V, Ragimbeau J and
            Pellegrini S.
  TITLE     Jamip1 (marlin-1) defines a family of proteins interacting with
            janus kinases and microtubules
  JOURNAL   J Biol Chem 279 (41), 43168-43177 (2004)
   PUBMED   15277531
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL162274.17 and AL512622.9.
            On Feb 3, 2021 this sequence version replaced XP_016871586.1.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2157437,
                              SAMN03465403 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            NMD candidate :: translation inferred from conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..770
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.3"
     Protein         1..770
                     /product="janus kinase and microtubule-interacting protein
                     3 isoform p"
                     /note="neuroendocrine long coiled-coil 2; janus kinase and
                     microtubule-interacting protein 3; neuroendocrine long
                     coiled-coil protein 2"
                     /calculated_mol_wt=90204
     Region          27..>744
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          355..551
                     /region_name="JAKMIP_CC3"
                     /note="JAKMIP CC3 domain; pfam16034"
                     /db_xref="CDD:435088"
     CDS             1..770
                     /gene="JAKMIP3"
                     /gene_synonym="bA140A10.5; C10orf14; C10orf39; Jamip3;
                     NECC2"
                     /coded_by="NM_001392059.1:254..2566"
                     /note="isoform p is encoded by transcript variant 27"
                     /db_xref="CCDS:CCDS91383.1"
                     /db_xref="GeneID:282973"
                     /db_xref="HGNC:HGNC:23523"
                     /db_xref="MIM:611198"
ORIGIN      
        1 mskrgmssra kgdkaealaa lqaanedlra kltdiqielq qekskvskve reknqelrqv
       61 reheqhktav lltelktklh eekmkelqav retllrqhea ellrvikikd nenqrlqall
      121 salrdggpek vktvllseak eeakkgfeve kvkmqqeise lkgakrqvee altlviqadk
      181 ikaaeirsvy hlhqeeitri kkecereirr lqldekdarr fqlkiaelsa iirkledrna
      241 llseernell krvreaesqy kplldknkrl srknedlsha lrrmenklkf vtqeniemrq
      301 ragiirrpss lndldqsqde revdflklqi veqqnlidel sktletagyv ksvlerdkll
      361 rfrkqrkkma klpkpvvvet ffgydeeasl esdgssvsyq tdrtdqtpct pdddleegma
      421 keetelrfrq ltmeyqalqr ayallqeqvg gtldaerevk treqlqaevq raqariedle
      481 kalaeqgqdm kwieekqaly rrnqelveki kqmeteearl rhevqdardq nellefrile
      541 leererkspa isfhhtpfvd gksplqvyce aegvtdivva elmkkldilg dnanltneeq
      601 vvviqartvl tlaekwlqqi eeteaalqrk mvdlesekel fskqkgylde eldyrkqald
      661 qankhilele amlydalqqe agakvaells eeereklkva veqwkrqvms elrerdaqil
      721 rermellqla qqrikeleer ieaqkrqike leekflflfl ffslafilws
//
LOCUS       NP_001375257             779 aa            linear   PRI 22-JAN-2023
DEFINITION  ensconsin isoform 2 [Homo sapiens].
ACCESSION   NP_001375257 XP_006715661
VERSION     NP_001375257.1
DBSOURCE    REFSEQ: accession NM_001388328.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 779)
  AUTHORS   Wang R, Xie S, He Y, Zheng R, Zhang M, Jin J and Wang M.
  TITLE     MAP7 Promotes Breast Cancer Cell Migration and Invasion by
            Regulating the NF-B Pathway
  JOURNAL   Ann Clin Lab Sci 52 (5), 721-730 (2022)
   PUBMED   36261182
  REMARK    GeneRIF: MAP7 Promotes Breast Cancer Cell Migration and Invasion by
            Regulating the NF-B Pathway.
REFERENCE   2  (residues 1 to 779)
  AUTHORS   Nabawy SM, Refaat LA, Naser-Aldin HM and Rashed RA.
  TITLE     Clinical Significance of MAP-7 and FOXC1 in Egyptian Acute Myeloid
            Leukemia Patients
  JOURNAL   Asian Pac J Cancer Prev 23 (5), 1619-1626 (2022)
   PUBMED   35633546
  REMARK    GeneRIF: Clinical Significance of MAP-7 and FOXC1 in Egyptian Acute
            Myeloid Leukemia Patients.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 779)
  AUTHORS   Ferro LS, Fang Q, Eshun-Wilson L, Fernandes J, Jack A, Farrell DP,
            Golcuk M, Huijben T, Costa K, Gur M, DiMaio F, Nogales E and Yildiz
            A.
  TITLE     Structural and functional insight into regulation of kinesin-1 by
            microtubule-associated protein MAP7
  JOURNAL   Science 375 (6578), 326-331 (2022)
   PUBMED   35050657
  REMARK    GeneRIF: Structural and functional insight into regulation of
            kinesin-1 by microtubule-associated protein MAP7.
REFERENCE   4  (residues 1 to 779)
  AUTHORS   Yu L, Xie J, Liu X, Yu Y and Wang S.
  TITLE     Plasma Exosomal CircNEK9 Accelerates the Progression of Gastric
            Cancer via miR-409-3p/MAP7 Axis
  JOURNAL   Dig Dis Sci 66 (12), 4274-4289 (2021)
   PUBMED   33449227
  REMARK    GeneRIF: Plasma Exosomal CircNEK9 Accelerates the Progression of
            Gastric Cancer via miR-409-3p/MAP7 Axis.
REFERENCE   5  (residues 1 to 779)
  AUTHORS   Zhang R, Li L, Chen L, Suo Y, Fan J, Zhang S, Wang Y, Gao S and
            Wang Y.
  TITLE     MAP7 interacts with RC3H1 and cooperatively regulate cell-cycle
            progression of cervical cancer cells via activating the NF-kappaB
            signaling
  JOURNAL   Biochem Biophys Res Commun 527 (1), 56-63 (2020)
   PUBMED   32446391
  REMARK    GeneRIF: MAP7 interacts with RC3H1 and cooperatively regulate
            cell-cycle progression of cervical cancer cells via activating the
            NF-kappaB signaling.
REFERENCE   6  (residues 1 to 779)
  AUTHORS   Penttila TL, Parvinen M and Paranko J.
  TITLE     Microtubule-associated epithelial protein E-MAP-115 is localized in
            the spermatid manchette
  JOURNAL   Int J Androl 26 (3), 166-174 (2003)
   PUBMED   12755995
REFERENCE   7  (residues 1 to 779)
  AUTHORS   Bulinski JC, Odde DJ, Howell BJ, Salmon TD and Waterman-Storer CM.
  TITLE     Rapid dynamics of the microtubule binding of ensconsin in vivo
  JOURNAL   J Cell Sci 114 (Pt 21), 3885-3897 (2001)
   PUBMED   11719555
REFERENCE   8  (residues 1 to 779)
  AUTHORS   Fabre-Jonca N, Viard I, French LE and Masson D.
  TITLE     Upregulation and redistribution of E-MAP-115 (epithelial
            microtubule-associated protein of 115 kDa) in terminally
            differentiating keratinocytes is coincident with the formation of
            intercellular contacts
  JOURNAL   J Invest Dermatol 112 (2), 216-225 (1999)
   PUBMED   9989799
REFERENCE   9  (residues 1 to 779)
  AUTHORS   Masson D and Kreis TE.
  TITLE     Binding of E-MAP-115 to microtubules is regulated by cell
            cycle-dependent phosphorylation
  JOURNAL   J Cell Biol 131 (4), 1015-1024 (1995)
   PUBMED   7490279
REFERENCE   10 (residues 1 to 779)
  AUTHORS   Masson D and Kreis TE.
  TITLE     Identification and molecular characterization of E-MAP-115, a novel
            microtubule-associated protein predominantly expressed in
            epithelial cells
  JOURNAL   J Cell Biol 123 (2), 357-371 (1993)
   PUBMED   8408219
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133511.9 and AL023284.1.
            On Oct 26, 2020 this sequence version replaced XP_006715661.1.
            
            Summary: The product of this gene is a microtubule-associated
            protein that is predominantly expressed in cells of epithelial
            origin. Microtubule-associated proteins are thought to be involved
            in microtubule dynamics, which is essential for cell polarization
            and differentiation. This protein has been shown to be able to
            stabilize microtubules, and may serve to modulate microtubule
            functions. Studies of the related mouse protein also suggested an
            essential role in microtubule function required for
            spermatogenesis. Multiple alternatively spliced transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.195163.1,
                                           SRR1660807.253673.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..779
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.3"
     Protein         1..779
                     /product="ensconsin isoform 2"
                     /note="ensconsin; dJ325F22.2 (microtubule-associated
                     protein 7 (EMAP115, E-MAP-115)); epithelial
                     microtubule-associated protein of 115 kDa"
                     /calculated_mol_wt=87687
     Region          <101..317
                     /region_name="PTZ00108"
                     /note="DNA topoisomerase 2-like protein; Provisional"
                     /db_xref="CDD:240271"
     Region          106..>181
                     /region_name="MAP7"
                     /note="MAP7 (E-MAP-115) family; pfam05672"
                     /db_xref="CDD:428577"
     Region          498..647
                     /region_name="MAP7"
                     /note="MAP7 (E-MAP-115) family; pfam05672"
                     /db_xref="CDD:428577"
     CDS             1..779
                     /gene="MAP7"
                     /gene_synonym="E-MAP-115; EMAP115"
                     /coded_by="NM_001388328.1:229..2568"
                     /note="isoform 2 is encoded by transcript variant 11"
                     /db_xref="CCDS:CCDS75527.1"
                     /db_xref="GeneID:9053"
                     /db_xref="HGNC:HGNC:6869"
                     /db_xref="MIM:604108"
ORIGIN      
        1 mpgsatalrh erlkktnarp iplglftine edeqqkngns rrpkapdsyk vqdkknassr
       61 pasaisgqnn nhsgnkpdpp pvlrvddrqr larerreere kqlaareivw lereerarqh
      121 yekhleerkk rleeqrqkee rrraaveekr rqrleedker heavvrrtme rsqkpkqkhn
      181 rwswggslhg spsihsadpd rrsvstmnls kyvdpviskr lssssatlln spdrarrlql
      241 spwessvvnr lltpthsfla rskstaalsg eavipicprs ascspiimpy kaahsrnsmd
      301 rpklfvtppe gssrrriihg tasykkerer envlfltsgt rravspsnpk arqparsrlw
      361 lpskslphlp gtprptsslp pgsvkaapaq vrppspgnir pvkrevkvep ekkdpekepq
      421 kvanepslkg raplvkveea tveertpaep evgpaapama papasapapa sapapapvpt
      481 pamvsapsst vnasasvkts agttdpeeat rllaekrrla reqrekeere rreqeelerq
      541 kreelaqrva eerttrreee srrleaeqar ekeeqlqrqa eeralreree aeraqrqkee
      601 earvreeaer vrqerekhfq reeqerlerk krleeimkrt rrteatdkkt sdqrngdiak
      661 galtggtevs alpcttnapg ngkpvgsphv vtshqskvtv estpdlekqp nengvsvqne
      721 nfeeiinlpi gskpsrldvt nsespeipln pilafddegt lgplpqvdgv qtqqtaevi
//
LOCUS       NP_116100                162 aa            linear   PRI 29-JAN-2023
DEFINITION  transcription factor MafG [Homo sapiens].
ACCESSION   NP_116100
VERSION     NP_116100.2
DBSOURCE    REFSEQ: accession NM_032711.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 162)
  AUTHORS   Xiang L, Zeng Q, Liu J, Xiao M, He D, Zhang Q, Xie D, Deng M, Zhu
            Y, Liu Y, Bo H, Liu X, Zhou M, Xiong W, Zhou Y, Zhou J, Li X and
            Cao K.
  TITLE     MAFG-AS1/MAFG positive feedback loop contributes to cisplatin
            resistance in bladder urothelial carcinoma through antagonistic
            ferroptosis
  JOURNAL   Sci Bull (Beijing) 66 (17), 1773-1788 (2021)
   PUBMED   36654385
  REMARK    GeneRIF: MAFG-AS1/MAFG positive feedback loop contributes to
            cisplatin resistance in bladder urothelial carcinoma through
            antagonistic ferroptosis.
REFERENCE   2  (residues 1 to 162)
  AUTHORS   Wang H, Dong J, Li G, Tan Y, Zhao H, Zhang L, Wang Y, Hu Z, Cao X,
            Shi F and Zhang S.
  TITLE     The small protein MafG plays a critical role in MC3T3-E1 cell
            apoptosis induced by simulated microgravity and radiation
  JOURNAL   Biochem Biophys Res Commun 555, 175-181 (2021)
   PUBMED   33819748
  REMARK    GeneRIF: The small protein MafG plays a critical role in MC3T3-E1
            cell apoptosis induced by simulated microgravity and radiation.
REFERENCE   3  (residues 1 to 162)
  AUTHORS   Hushpulian DM, Ammal Kaidery N, Ahuja M, Poloznikov AA, Sharma SM,
            Gazaryan IG and Thomas B.
  TITLE     Challenges and Limitations of Targeting the Keap1-Nrf2 Pathway for
            Neurotherapeutics: Bach1 De-Repression to the Rescue
  JOURNAL   Front Aging Neurosci 13, 673205 (2021)
   PUBMED   33897412
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 162)
  AUTHORS   Fu Y, Wen J, Li X, Gong M, Guo Z and Wang G.
  TITLE     LncRNA MAFG-AS1 Upregulates Polo-Like Kinase-1 by Sponging miR-505
            to Promote Gastric Adenocarcinoma Cell Proliferation
  JOURNAL   Crit Rev Eukaryot Gene Expr 31 (5), 27-32 (2021)
   PUBMED   34591387
  REMARK    GeneRIF: LncRNA MAFG-AS1 Upregulates Polo-Like Kinase-1 by Sponging
            miR-505 to Promote Gastric Adenocarcinoma Cell Proliferation.
REFERENCE   5  (residues 1 to 162)
  AUTHORS   Cui W, Wang Y, Shen X, Wu X, Liu H and Xu X.
  TITLE     High-expression of LncRNA MAFG-AS1 is associated with the
            prognostic of patients with colorectal cancer
  JOURNAL   Rev Assoc Med Bras (1992) 66 (11), 1530-1535 (2020)
   PUBMED   33295405
  REMARK    GeneRIF: High-expression of LncRNA MAFG-AS1 is associated with the
            prognostic of patients with colorectal cancer.
REFERENCE   6  (residues 1 to 162)
  AUTHORS   Marini MG, Chan K, Casula L, Kan YW, Cao A and Moi P.
  TITLE     hMAF, a small human transcription factor that heterodimerizes
            specifically with Nrf1 and Nrf2
  JOURNAL   J Biol Chem 272 (26), 16490-16497 (1997)
   PUBMED   9195958
REFERENCE   7  (residues 1 to 162)
  AUTHORS   Blank V, Kim MJ and Andrews NC.
  TITLE     Human MafG is a functional partner for p45 NF-E2 in activating
            globin gene expression
  JOURNAL   Blood 89 (11), 3925-3935 (1997)
   PUBMED   9166829
REFERENCE   8  (residues 1 to 162)
  AUTHORS   Toki T, Itoh J, Kitazawa J, Arai K, Hatakeyama K, Akasaka J,
            Igarashi K, Nomura N, Yokoyama M, Yamamoto M and Ito E.
  TITLE     Human small Maf proteins form heterodimers with CNC family
            transcription factors and recognize the NF-E2 motif
  JOURNAL   Oncogene 14 (16), 1901-1910 (1997)
   PUBMED   9150357
REFERENCE   9  (residues 1 to 162)
  AUTHORS   Johnsen O, Skammelsrud N, Luna L, Nishizawa M, Prydz H and Kolsto
            AB.
  TITLE     Small Maf proteins interact with the human transcription factor
            TCF11/Nrf1/LCR-F1
  JOURNAL   Nucleic Acids Res 24 (21), 4289-4297 (1996)
   PUBMED   8932385
REFERENCE   10 (residues 1 to 162)
  AUTHORS   Armstrong JA and Emerson BM.
  TITLE     NF-E2 disrupts chromatin structure at human beta-globin locus
            control region hypersensitive site 2 in vitro
  JOURNAL   Mol Cell Biol 16 (10), 5634-5644 (1996)
   PUBMED   8816476
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC012327.1, AC145207.2, BC103722.1 and AA775797.1.
            On Jul 2, 2004 this sequence version replaced NP_116100.1.
            
            Summary: Globin gene expression is regulated through nuclear factor
            erythroid-2 (NFE2) elements located in enhancer-like locus control
            regions positioned many kb upstream of alpha- and beta-gene
            clusters (summarized by Blank et al., 1997 [PubMed 9166829]). NFE2
            DNA-binding activity consists of a heterodimer containing a
            ubiquitous small Maf protein (MafF, MIM 604877; MafG; or MafK, MIM
            600197) and the tissue-restricted protein p45 NFE2 (MIM 601490).
            Both subunits are members of the activator protein-1-like
            superfamily of basic leucine zipper (bZIP) proteins (see MIM
            165160).[supplied by OMIM, Mar 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC012327.1, U84249.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..162
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..162
                     /product="transcription factor MafG"
                     /note="basic leucine zipper transcription factor MafG;
                     v-maf avian musculoaponeurotic fibrosarcoma oncogene
                     homolog G"
                     /calculated_mol_wt=17718
     Region          1..24
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O15525.1)"
     Region          46..115
                     /region_name="bZIP_Maf_small"
                     /note="Basic leucine zipper (bZIP) domain of small
                     musculoaponeurotic fibrosarcoma (Maf) proteins: a
                     DNA-binding and dimerization domain; cd14717"
                     /db_xref="CDD:269865"
     Region          46..115
                     /region_name="coiled coil"
                     /note="coiled coil [structural motif]"
                     /db_xref="CDD:269865"
     Region          53..76
                     /region_name="Basic motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00978"
                     /note="propagated from UniProtKB/Swiss-Prot (O15525.1)"
     Site            53
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000305|PubMed:11154691; propagated from
                     UniProtKB/Swiss-Prot (O15525.1)"
     Site            order(56..58,60..62,64..65,68..69,71..72)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:269865"
     Site            60
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000305|PubMed:11154691; propagated from
                     UniProtKB/Swiss-Prot (O15525.1)"
     Site            71
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000305|PubMed:11154691; propagated from
                     UniProtKB/Swiss-Prot (O15525.1)"
     Site            order(72,75..76,79..80,82..83,86..87,89..90,93,96..97,100,
                     103..104,107..108)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:269865"
     Site            76
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000305|PubMed:11154691; propagated from
                     UniProtKB/Swiss-Prot (O15525.1)"
     Region          79..93
                     /region_name="Leucine-zipper.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00978"
                     /note="propagated from UniProtKB/Swiss-Prot (O15525.1)"
     Site            124
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O15525.1)"
     CDS             1..162
                     /gene="MAFG"
                     /gene_synonym="hMAF"
                     /coded_by="NM_032711.4:144..632"
                     /db_xref="CCDS:CCDS11793.1"
                     /db_xref="GeneID:4097"
                     /db_xref="HGNC:HGNC:6781"
                     /db_xref="MIM:602020"
ORIGIN      
        1 mttpnkgnka lkvkrepgen gtsltdeelv tmsvrelnqh lrglskeeiv qlkqrrrtlk
       61 nrgyaascrv krvtqkeele kqkaelqqev eklasenasm kleldalrsk yealqtfart
      121 varspvapar gplaaglgpl vpgkvaatsv itivksktda rs
//
LOCUS       NP_001374447             346 aa            linear   PRI 29-JAN-2023
DEFINITION  lysophosphatidic acid receptor 1 isoform b [Homo sapiens].
ACCESSION   NP_001374447
VERSION     NP_001374447.1
DBSOURCE    REFSEQ: accession NM_001387518.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 346)
  AUTHORS   Doutt SW, Longo JF and Carroll SL.
  TITLE     LPAR1 and aberrantly expressed LPAR3 differentially promote the
            migration and proliferation of malignant peripheral nerve sheath
            tumor cells
  JOURNAL   Glia 71 (3), 742-757 (2023)
   PUBMED   36416236
  REMARK    GeneRIF: LPAR1 and aberrantly expressed LPAR3 differentially
            promote the migration and proliferation of malignant peripheral
            nerve sheath tumor cells.
REFERENCE   2  (residues 1 to 346)
  AUTHORS   Ahmadzai MM, McClain JL, Dharshika C, Seguella L, Giancola F, De
            Giorgio R and Gulbransen BD.
  TITLE     LPAR1 regulates enteric nervous system function through glial
            signaling and contributes to chronic intestinal pseudo-obstruction
  JOURNAL   J Clin Invest 132 (4) (2022)
   PUBMED   35166239
  REMARK    GeneRIF: LPAR1 regulates enteric nervous system function through
            glial signaling and contributes to chronic intestinal
            pseudo-obstruction.
REFERENCE   3  (residues 1 to 346)
  AUTHORS   Liu S, Paknejad N, Zhu L, Kihara Y, Ray M, Chun J, Liu W, Hite RK
            and Huang XY.
  TITLE     Differential activation mechanisms of lipid GPCRs by
            lysophosphatidic acid and sphingosine 1-phosphate
  JOURNAL   Nat Commun 13 (1), 731 (2022)
   PUBMED   35136060
  REMARK    GeneRIF: Differential activation mechanisms of lipid GPCRs by
            lysophosphatidic acid and sphingosine 1-phosphate.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 346)
  AUTHORS   Wang H, Feng Z, Han X, Xing Y and Zhang X.
  TITLE     Downregulation of acylglycerol kinase suppresses
            high-glucose-induced endothelial-mesenchymal transition in human
            retinal microvascular endothelial cells through regulating the
            LPAR1/TGF-beta/Notch signaling pathway
  JOURNAL   Can J Physiol Pharmacol 100 (2), 142-150 (2022)
   PUBMED   34559978
  REMARK    GeneRIF: Downregulation of acylglycerol kinase suppresses
            high-glucose-induced endothelial-mesenchymal transition in human
            retinal microvascular endothelial cells through regulating the
            LPAR1/TGF-beta/Notch signaling pathway.
REFERENCE   5  (residues 1 to 346)
  AUTHORS   Liu J, Rebecca VW, Kossenkov AV, Connelly T, Liu Q, Gutierrez A,
            Xiao M, Li L, Zhang G, Samarkina A, Zayasbazan D, Zhang J, Cheng C,
            Wei Z, Alicea GM, Fukunaga-Kalabis M, Krepler C, Aza-Blanc P, Yang
            CC, Delvadia B, Tong C, Huang Y, Delvadia M, Morias AS, Sproesser
            K, Brafford P, Wang JX, Beqiri M, Somasundaram R, Vultur A,
            Hristova DM, Wu LW, Lu Y, Mills GB, Xu W, Karakousis GC, Xu X,
            Schuchter LM, Mitchell TC, Amaravadi RK, Kwong LN, Frederick DT,
            Boland GM, Salvino JM, Speicher DW, Flaherty KT, Ronai ZA and
            Herlyn M.
  TITLE     Neural Crest-Like Stem Cell Transcriptome Analysis Identifies LPAR1
            in Melanoma Progression and Therapy Resistance
  JOURNAL   Cancer Res 81 (20), 5230-5241 (2021)
   PUBMED   34462276
  REMARK    GeneRIF: Neural Crest-Like Stem Cell Transcriptome Analysis
            Identifies LPAR1 in Melanoma Progression and Therapy Resistance.
REFERENCE   6  (residues 1 to 346)
  AUTHORS   An S, Bleu T, Zheng Y and Goetzl EJ.
  TITLE     Recombinant human G protein-coupled lysophosphatidic acid receptors
            mediate intracellular calcium mobilization
  JOURNAL   Mol Pharmacol 54 (5), 881-888 (1998)
   PUBMED   9804623
REFERENCE   7  (residues 1 to 346)
  AUTHORS   Fukushima N, Kimura Y and Chun J.
  TITLE     A single receptor encoded by vzg-1/lpA1/edg-2 couples to G proteins
            and mediates multiple cellular responses to lysophosphatidic acid
  JOURNAL   Proc Natl Acad Sci U S A 95 (11), 6151-6156 (1998)
   PUBMED   9600933
REFERENCE   8  (residues 1 to 346)
  AUTHORS   Moolenaar WH, Kranenburg O, Postma FR and Zondag GC.
  TITLE     Lysophosphatidic acid: G-protein signalling and cellular responses
  JOURNAL   Curr Opin Cell Biol 9 (2), 168-173 (1997)
   PUBMED   9069262
REFERENCE   9  (residues 1 to 346)
  AUTHORS   An S, Dickens MA, Bleu T, Hallmark OG and Goetzl EJ.
  TITLE     Molecular cloning of the human Edg2 protein and its identification
            as a functional cellular receptor for lysophosphatidic acid
  JOURNAL   Biochem Biophys Res Commun 231 (3), 619-622 (1997)
   PUBMED   9070858
REFERENCE   10 (residues 1 to 346)
  AUTHORS   Hecht JH, Weiner JA, Post SR and Chun J.
  TITLE     Ventricular zone gene-1 (vzg-1) encodes a lysophosphatidic acid
            receptor expressed in neurogenic regions of the developing cerebral
            cortex
  JOURNAL   J Cell Biol 135 (4), 1071-1083 (1996)
   PUBMED   8922387
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL442064.10 and AL157881.14.
            
            Summary: The integral membrane protein encoded by this gene is a
            lysophosphatidic acid (LPA) receptor from a group known as EDG
            receptors. These receptors are members of the G protein-coupled
            receptor superfamily. Utilized by LPA for cell signaling, EDG
            receptors mediate diverse biologic functions, including
            proliferation, platelet aggregation, smooth muscle contraction,
            inhibition of neuroblastoma cell differentiation, chemotaxis, and
            tumor cell invasion. Many transcript variants encoding a few
            different isoforms have been identified for this gene. [provided by
            RefSeq, Oct 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.204069.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..346
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.3"
     Protein         1..346
                     /product="lysophosphatidic acid receptor 1 isoform b"
                     /note="endothelial differentiation, lysophosphatidic acid
                     G-protein-coupled receptor, 2; ventricular zone gene 1;
                     LPA-1; LPA receptor 1; lysophosphatidic acid receptor
                     Edg-2"
                     /calculated_mol_wt=39134
     Region          32..304
                     /region_name="7tmA_LPAR1_Edg2"
                     /note="lysophosphatidic acid receptor subtype 1 (LPAR1 or
                     LPA1), also called endothelial differentiation gene 2
                     (Edg2), member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15344"
                     /db_xref="CDD:341348"
     Region          33..59
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:341348"
     Site            order(34,84,91,95,106..107,110..111,114,180,189,192,253,
                     256,259..260,275..276,278..279)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:341348"
     Region          66..91
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:341348"
     Region          103..133
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:341348"
     Region          144..164
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:341348"
     Region          184..213
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:341348"
     Region          233..263
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:341348"
     Region          272..297
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:341348"
     CDS             1..346
                     /gene="LPAR1"
                     /gene_synonym="edg-2; EDG2; Gpcr26; LPA1; Mrec1.3;
                     rec.1.3; vzg-1; VZG1"
                     /coded_by="NM_001387518.1:308..1348"
                     /note="isoform b is encoded by transcript variant 73"
                     /db_xref="GeneID:1902"
                     /db_xref="HGNC:HGNC:3166"
                     /db_xref="MIM:602282"
ORIGIN      
        1 mnepqcfyne siaffynrsg khlatewntv sklvmglgit vcifimlanl lvmvaiyvnr
       61 rfhfpiyylm anlaaadffa glayfylmfn tgpntrrltv stwllrqgli dtsltasvan
      121 llaiaierhi tvfrmqlhtr msnrrvvvvi vviwtmaivm gaipsvgwnc icdiencsnm
      181 aplysdsylv fwaifnlvtf vvmvvlyahi fgyvrqrtmr msrhssgprr nrdtmmsllk
      241 tvvivlgafi icwtpglvll lldvccpqcd vlayekffll laefnsamnp iiysyrdkem
      301 satfrqilcc qrsenptgpt egsdrsassl nhtilagvhs ndhsvv
//
LOCUS       NP_112174                551 aa            linear   PRI 07-FEB-2023
DEFINITION  E3 ubiquitin-protein ligase TRIM8 isoform 1 [Homo sapiens].
ACCESSION   NP_112174
VERSION     NP_112174.2
DBSOURCE    REFSEQ: accession NM_030912.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 551)
  AUTHORS   Hosseinalizadeh H, Mohamadzadeh O, Kahrizi MS, Razaghi Bahabadi Z,
            Klionsky DJ and Mirzei H.
  TITLE     TRIM8: a double-edged sword in glioblastoma with the power to heal
            or hurt
  JOURNAL   Cell Mol Biol Lett 28 (1), 6 (2023)
   PUBMED   36690946
  REMARK    GeneRIF: TRIM8: a double-edged sword in glioblastoma with the power
            to heal or hurt.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 551)
  AUTHORS   Lu B, Li J, Gui M, Yao L, Fan M, Zhou X and Fu D.
  TITLE     Salvianolic acid B inhibits myocardial I/R-induced ROS generation
            and cell apoptosis by regulating the TRIM8/GPX1 pathway
  JOURNAL   Pharm Biol 60 (1), 1458-1468 (2022)
   PUBMED   35968584
  REMARK    GeneRIF: Salvianolic acid B inhibits myocardial I/R-induced ROS
            generation and cell apoptosis by regulating the TRIM8/GPX1 pathway.
REFERENCE   3  (residues 1 to 551)
  AUTHORS   Quan L, Ren G, Liu L, Huang W and Li M.
  TITLE     Circular RNA circ_0002594 regulates PDGF-BB-induced proliferation
            and migration of human airway smooth muscle cells via sponging
            miR-139-5p/TRIM8 in asthma
  JOURNAL   Autoimmunity 55 (5), 339-350 (2022)
   PUBMED   35470728
  REMARK    GeneRIF: Circular RNA circ_0002594 regulates PDGF-BB-induced
            proliferation and migration of human airway smooth muscle cells via
            sponging miR-139-5p/TRIM8 in asthma.
REFERENCE   4  (residues 1 to 551)
  AUTHORS   Seong BKA, Dharia NV, Lin S, Donovan KA, Chong S, Robichaud A,
            Conway A, Hamze A, Ross L, Alexe G, Adane B, Nabet B, Ferguson FM,
            Stolte B, Wang EJ, Sun J, Darzacq X, Piccioni F, Gray NS, Fischer
            ES and Stegmaier K.
  TITLE     TRIM8 modulates the EWS/FLI oncoprotein to promote survival in
            Ewing sarcoma
  JOURNAL   Cancer Cell 39 (9), 1262-1278 (2021)
   PUBMED   34329586
  REMARK    GeneRIF: TRIM8 modulates the EWS/FLI oncoprotein to promote
            survival in Ewing sarcoma.
REFERENCE   5  (residues 1 to 551)
  AUTHORS   Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J,
            Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL,
            Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K,
            Kitzler TM, Klambt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti
            A, Martino J, Beck BB, Altmuller J, Benz MR, Yano S, Mikati MA,
            Gunduz T, Cope H, Shashi V, Trachtman H, Bodria M, Caridi G, Pisani
            I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O,
            Zuckerman J, Kim A, John-Kroegel U, Tyndall AV, Parboosingh JS,
            Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J,
            Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby
            EG, O'Donnell-Luria A, Rehm HL, Mane S, D'Agati VD, Pollak MR,
            Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F and
            Sanna-Cherchi S.
  CONSRTM   Undiagnosed Diseases Network; UCLA Clinical Genomics Center
  TITLE     De novo TRIM8 variants impair its protein localization to nuclear
            bodies and cause developmental delay, epilepsy, and focal segmental
            glomerulosclerosis
  JOURNAL   Am J Hum Genet 108 (2), 357-367 (2021)
   PUBMED   33508234
  REMARK    GeneRIF: De novo TRIM8 variants impair its protein localization to
            nuclear bodies and cause developmental delay, epilepsy, and focal
            segmental glomerulosclerosis.
REFERENCE   6  (residues 1 to 551)
  AUTHORS   Sakai Y, Fukai R, Matsushita Y, Miyake N, Saitsu H, Akamine S,
            Torio M, Sasazuki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA,
            Matsumoto N and Hara T.
  TITLE     De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic
            Encephalopathy
  JOURNAL   Ann Hum Genet 80 (4), 235-240 (2016)
   PUBMED   27346735
  REMARK    GeneRIF: A pathogenic effect of a heterozygous truncating mutation
            in the tripartite motif containing 8 (TRIM8) gene on the postnatal
            development of the human brain.
REFERENCE   7  (residues 1 to 551)
  AUTHORS   Toniato E, Flati V, Laglia E, Mincione G and Martinotti S.
  TITLE     Genomic organization and cytokine-mediated inducibility of the
            human TRIM-8/Gerp gene
  JOURNAL   Int J Immunopathol Pharmacol 17 (2 Suppl), 71-76 (2004)
   PUBMED   15345195
  REMARK    GeneRIF: Gerp transcribes interferon-gamma in epithelial and
            lymphoid cells and is expressed almost ubiquitously in tissues.
REFERENCE   8  (residues 1 to 551)
  AUTHORS   Toniato E, Chen XP, Losman J, Flati V, Donahue L and Rothman P.
  TITLE     TRIM8/GERP RING finger protein interacts with SOCS-1
  JOURNAL   J Biol Chem 277 (40), 37315-37322 (2002)
   PUBMED   12163497
  REMARK    GeneRIF: interacts with SOCS-1
REFERENCE   9  (residues 1 to 551)
  AUTHORS   Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L,
            Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci
            S, Pelicci PG and Ballabio A.
  TITLE     The tripartite motif family identifies cell compartments
  JOURNAL   EMBO J 20 (9), 2140-2151 (2001)
   PUBMED   11331580
REFERENCE   10 (residues 1 to 551)
  AUTHORS   Vincent SR, Kwasnicka DA and Fretier P.
  TITLE     A novel RING finger-B box-coiled-coil protein, GERP
  JOURNAL   Biochem Biophys Res Commun 279 (2), 482-486 (2000)
   PUBMED   11118312
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL391121.29, BG746631.1,
            AF220034.1 and AA907931.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 5, 2007 this sequence version replaced NP_112174.1.
            
            Summary: This gene encodes a member of the tripartite motif (TRIM)
            protein family. Based on similarities to other proteins, the
            encoded protein is suspected to be an E3 ubiquitin-protein ligase.
            Regulation of this gene may be altered in some cancers. Mutations
            resulting in a truncated protein product have been observed in
            early-onset epileptic encephalopathy (EOEE). [provided by RefSeq,
            Sep 2016].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF281046.1, BC021925.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000643721.2/ ENSP00000496301.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.32"
     Protein         1..551
                     /product="E3 ubiquitin-protein ligase TRIM8 isoform 1"
                     /EC_number="2.3.2.27"
                     /note="ring finger protein 27; tripartite motif protein
                     TRIM8; probable E3 ubiquitin-protein ligase TRIM8;
                     glioblastoma-expressed RING finger protein; RING-type E3
                     ubiquitin transferase TRIM8"
                     /calculated_mol_wt=61358
     Region          2..68
                     /region_name="RING-HC_TRIM8_C-V"
                     /note="RING finger, HC subclass, found in tripartite
                     motif-containing protein 8 (TRIM8) and similar proteins;
                     cd16580"
                     /db_xref="CDD:438242"
     Region          90..137
                     /region_name="Bbox1_TRIM8_C-V"
                     /note="B-box-type 1 zinc finger found in tripartite
                     motif-containing protein 8 (TRIM8) and similar proteins;
                     cd19838"
                     /db_xref="CDD:380896"
     Region          142..183
                     /region_name="Bbox2_TRIM8_C-V"
                     /note="B-box-type 2 zinc finger found in tripartite
                     motif-containing protein 8 (TRIM8) and similar proteins;
                     cd19763"
                     /db_xref="CDD:380821"
     Region          <181..>347
                     /region_name="SCP-1"
                     /note="Synaptonemal complex protein 1 (SCP-1); pfam05483"
                     /db_xref="CDD:114219"
     CDS             1..551
                     /gene="TRIM8"
                     /gene_synonym="FSGSNEDS; GERP; RNF27"
                     /coded_by="NM_030912.3:140..1795"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS31274.1"
                     /db_xref="GeneID:81603"
                     /db_xref="HGNC:HGNC:15579"
                     /db_xref="MIM:606125"
ORIGIN      
        1 maenwkncfe eelicpiclh vfvepvqlpc khnfcrgcig eawakdsglv rcpecnqayn
       61 qkpgleknlk ltnivekfna lhvekppaal hcvfcrrgpp lpaqkvclrc eapccqshvq
      121 thlqqpstar ghllveaddv rawscpqhna yrlyhceaeq vavcqyccyy sgahqghsvc
      181 dveirrneir kmlmkqqdrl eereqdiedq lyklesdkrl veekvnqlke evrlqyeklh
      241 qlldedlrqt vevldkaqak fcsenaaqal hlgermqeak kllgslqllf dktedvsfmk
      301 ntksvkilmd rtqtctsssl sptkighlns klflnevakk ekqlrkmleg pfstpvpflq
      361 svplypcgvs ssgaekrkhs tafpeasfle tssgpvggqy gaagtasgeg qsgqplgpcs
      421 stqhlvalpg gaqpvhsspv fppsqypngs aaqqpmlpqy ggrkilvcsv dncycssvan
      481 hgghqpyprs ghfpwtvpsq eyshplpptp svpqslpsla vrdwldasqq pghqdfyrvy
      541 gqpstkhyvt s
//
LOCUS       NP_001357599             254 aa            linear   PRI 14-MAR-2023
DEFINITION  aprataxin isoform j [Homo sapiens].
ACCESSION   NP_001357599
VERSION     NP_001357599.1
DBSOURCE    REFSEQ: accession NM_001370670.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 254)
  AUTHORS   Ababneh NA, Al-Kurdi B, Ali D, Abuarqoub D, Barham R, Alzibdeh AM,
            Khanfar AN, Altantawi AM, Ryalat AT, Sharrack B and Awidi A.
  TITLE     Generation and characterization of induced pluripotent stem cell
            (iPSC) line (JUCTCi002-A) from a patient with ataxia with
            oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in
            the APTX gene
  JOURNAL   Stem Cell Res 48, 101925 (2020)
   PUBMED   32769066
  REMARK    GeneRIF: Generation and characterization of induced pluripotent
            stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with
            oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in
            the APTX gene.
REFERENCE   2  (residues 1 to 254)
  AUTHORS   Ababneh NA, Ali D, Al-Kurdi B, Sallam M, Alzibdeh AM, Salah B,
            Ryalat AT, Azab B, Sharrack B and Awidi A.
  TITLE     Identification of APTX disease-causing mutation in two unrelated
            Jordanian families with cerebellar ataxia and sensitivity to DNA
            damaging agents
  JOURNAL   PLoS One 15 (8), e0236808 (2020)
   PUBMED   32750061
  REMARK    GeneRIF: Identification of APTX disease-causing mutation in two
            unrelated Jordanian families with cerebellar ataxia and sensitivity
            to DNA damaging agents.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 254)
  AUTHORS   Hirano M, Nishiwaki T, Kariya S, Furiya Y, Kawahara M and Ueno S.
  TITLE     Novel splice variants increase molecular diversity of aprataxin,
            the gene responsible for early-onset ataxia with ocular motor
            apraxia and hypoalbuminemia
  JOURNAL   Neurosci Lett 366 (2), 120-125 (2004)
   PUBMED   15276230
REFERENCE   4  (residues 1 to 254)
  AUTHORS   Shimazaki H, Takiyama Y, Sakoe K, Ikeguchi K, Niijima K, Kaneko J,
            Namekawa M, Ogawa T, Date H, Tsuji S, Nakano I and Nishizawa M.
  TITLE     Early-onset ataxia with ocular motor apraxia and hypoalbuminemia:
            the aprataxin gene mutations
  JOURNAL   Neurology 59 (4), 590-595 (2002)
   PUBMED   12196655
REFERENCE   5  (residues 1 to 254)
  AUTHORS   Brenner C.
  TITLE     Hint, Fhit, and GalT: function, structure, evolution, and mechanism
            of three branches of the histidine triad superfamily of nucleotide
            hydrolases and transferases
  JOURNAL   Biochemistry 41 (29), 9003-9014 (2002)
   PUBMED   12119013
REFERENCE   6  (residues 1 to 254)
  AUTHORS   Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T,
            Mendonca P, Costa M, Barros J, Yanagisawa T, Watanabe M, Ikeda Y,
            Aoki M, Nagata T, Coutinho P, Sequeiros J and Koenig M.
  TITLE     The gene mutated in ataxia-ocular apraxia 1 encodes the new
            HIT/Zn-finger protein aprataxin
  JOURNAL   Nat Genet 29 (2), 189-193 (2001)
   PUBMED   11586300
REFERENCE   7  (residues 1 to 254)
  AUTHORS   Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, Igarashi S,
            Koike R, Hiroi T, Yuasa T, Awaya Y, Sakai T, Takahashi T, Nagatomo
            H, Sekijima Y, Kawachi I, Takiyama Y, Nishizawa M, Fukuhara N,
            Saito K, Sugano S and Tsuji S.
  TITLE     Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is
            caused by mutations in a new HIT superfamily gene
  JOURNAL   Nat Genet 29 (2), 184-188 (2001)
   PUBMED   11586299
REFERENCE   8  (residues 1 to 254)
  AUTHORS   Moreira MC, Barbot C, Tachi N, Kozuka N, Mendonca P, Barros J,
            Coutinho P, Sequeiros J and Koenig M.
  TITLE     Homozygosity mapping of Portuguese and Japanese forms of
            ataxia-oculomotor apraxia to 9p13, and evidence for genetic
            heterogeneity
  JOURNAL   Am J Hum Genet 68 (2), 501-508 (2001)
   PUBMED   11170899
REFERENCE   9  (residues 1 to 254)
  AUTHORS   Coutinho,P., Barbot,C. and Coutinho,P.
  TITLE     Ataxia with Oculomotor Apraxia Type 1
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301629
REFERENCE   10 (residues 1 to 254)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162590.15 and AL353717.13.
            
            Summary: This gene encodes a member of the histidine triad (HIT)
            superfamily. The encoded protein may play a role in single-stranded
            DNA repair through its nucleotide-binding activity and its
            diadenosine polyphosphate hydrolase activity. Mutations in this
            gene have been associated with ataxia-ocular apraxia. Alternatively
            spliced transcript variants have been identified for this
            gene.[provided by RefSeq, Aug 2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.84413.1,
                                           SRR1803616.261546.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..254
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.1"
     Protein         1..254
                     /product="aprataxin isoform j"
                     /EC_number="3.6.1.72"
                     /EC_number="3.6.1.71"
                     /note="forkhead-associated domain histidine triad-like
                     protein"
                     /calculated_mol_wt=28977
     Region          76..177
                     /region_name="aprataxin_related"
                     /note="aprataxin related: Aprataxin, a HINT family
                     hydrolase is mutated in ataxia oculomotor apraxia
                     syndrome. All the members of this subgroup have the
                     conserved HxHxHxx (where x is a hydrophobic residue)
                     signature motif. Members of this subgroup are...; cd01278"
                     /db_xref="CDD:238609"
     Site            order(170,172,174..176)
                     /site_type="active"
                     /note="HIT family signature motif [active]"
                     /db_xref="CDD:238609"
     Site            172
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:238609"
     Region          195..254
                     /region_name="zf-C2HE"
                     /note="C2HE / C2H2 / C2HC zinc-binding finger; pfam16278"
                     /db_xref="CDD:435254"
     CDS             1..254
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /coded_by="NM_001370670.1:377..1141"
                     /note="isoform j is encoded by transcript variant 14"
                     /db_xref="CCDS:CCDS47957.1"
                     /db_xref="GeneID:54840"
                     /db_xref="HGNC:HGNC:15984"
                     /db_xref="MIM:606350"
ORIGIN      
        1 mvnelypyiv efeeeaknpg lethrkrkrs gnsdsierda aqeaeagtgl epgsnsgqcs
       61 vplkkgkdap ikkeslghws qglkismqdp kmqvykdeqv vvikdkypka ryhwlvlpwt
      121 sisslkavar ehlellkhmh tvgekvivdf agssklrfrl gyhaipsmsh vhlhvisqdf
      181 dspclknkkh wnsfnteyfl esqaviemvq eagrvtvrdg mpellklplr checqqllps
      241 ipqlkehlrk hwtq
//
LOCUS       NP_055299                460 aa            linear   PRI 14-MAR-2023
DEFINITION  adenylyltransferase and sulfurtransferase MOCS3 [Homo sapiens].
ACCESSION   NP_055299
VERSION     NP_055299.1
DBSOURCE    REFSEQ: accession NM_014484.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 460)
  AUTHORS   Pabis M, Termathe M, Ravichandran KE, Kienast SD, Krutyholowa R,
            Sokolowski M, Jankowska U, Grudnik P, Leidel SA and Glatt S.
  TITLE     Molecular basis for the bifunctional Uba4-Urm1 sulfur-relay system
            in tRNA thiolation and ubiquitin-like conjugation
  JOURNAL   EMBO J 39 (19), e105087 (2020)
   PUBMED   32901956
  REMARK    GeneRIF: Molecular basis for the bifunctional Uba4-Urm1
            sulfur-relay system in tRNA thiolation and ubiquitin-like
            conjugation.
REFERENCE   2  (residues 1 to 460)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 460)
  AUTHORS   Neukranz Y, Kotter A, Beilschmidt L, Marelja Z, Helm M, Graf R and
            Leimkuhler S.
  TITLE     Analysis of the Cellular Roles of MOCS3 Identifies a
            MOCS3-Independent Localization of NFS1 at the Tips of the
            Centrosome
  JOURNAL   Biochemistry 58 (13), 1786-1798 (2019)
   PUBMED   30817134
  REMARK    GeneRIF: By different methods, this study identified a
            MOCS3-independent novel localization of NFS1 at the centrosome.
REFERENCE   4  (residues 1 to 460)
  AUTHORS   Huijmans JGM, Schot R, de Klerk JBC, Williams M, de Coo RFM, Duran
            M, Verheijen FW, van Slegtenhorst M and Mancini GMS.
  TITLE     Molybdenum cofactor deficiency: Identification of a patient with
            homozygote mutation in the MOCS3 gene
  JOURNAL   Am J Med Genet A 173 (6), 1601-1606 (2017)
   PUBMED   28544736
  REMARK    GeneRIF: This observation should encourage testing of additional
            intellectual disability patients with mild abnormalities of sulfite
            metabolism for MOCS3 mutations.
REFERENCE   5  (residues 1 to 460)
  AUTHORS   Jackson VE, Ntalla I, Sayers I, Morris R, Whincup P, Casas JP,
            Amuzu A, Choi M, Dale C, Kumari M, Engmann J, Kalsheker N, Chappell
            S, Guetta-Baranes T, McKeever TM, Palmer CN, Tavendale R, Holloway
            JW, Sayer AA, Dennison EM, Cooper C, Bafadhel M, Barker B,
            Brightling C, Bolton CE, John ME, Parker SG, Moffat MF, Wardlaw AJ,
            Connolly MJ, Porteous DJ, Smith BH, Padmanabhan S, Hocking L,
            Stirrups KE, Deloukas P, Strachan DP, Hall IP, Tobin MD and Wain
            LV.
  TITLE     Exome-wide analysis of rare coding variation identifies novel
            associations with COPD and airflow limitation in MOCS3, IFIT3 and
            SERPINA12
  JOURNAL   Thorax 71 (6), 501-509 (2016)
   PUBMED   26917578
  REMARK    GeneRIF: Among the associated variants were two in regions
            previously unreported for COPD; a low frequency non-synonymous SNP
            in MOCS3 (rs7269297, pdiscovery=3.08x10(-6), preplication=0.019)
            and a rare SNP in IFIT3, which emerged in the meta-analysis
            (rs140549288, pmeta=8.56x10(-6)).
REFERENCE   6  (residues 1 to 460)
  AUTHORS   Krepinsky K and Leimkuhler S.
  TITLE     Site-directed mutagenesis of the active site loop of the
            rhodanese-like domain of the human molybdopterin synthase sulfurase
            MOCS3. Major differences in substrate specificity between
            eukaryotic and bacterial homologs
  JOURNAL   FEBS J 274 (11), 2778-2787 (2007)
   PUBMED   17459099
  REMARK    GeneRIF: in humans & most eukaryotes thiosulfate is not physiologic
            sulfur donor for MOCS3, whereas in bacterial homologs, which have
            arginine at last position of active site loop, thiosulfate can be
            used as a sulfur source for molybdenum cofactor biosynthesis.
REFERENCE   7  (residues 1 to 460)
  AUTHORS   Matthies A, Nimtz M and Leimkuhler S.
  TITLE     Molybdenum cofactor biosynthesis in humans: identification of a
            persulfide group in the rhodanese-like domain of MOCS3 by mass
            spectrometry
  JOURNAL   Biochemistry 44 (21), 7912-7920 (2005)
   PUBMED   15910006
  REMARK    GeneRIF: Electrospray ionization mass spectrometry performed on a
            rhodanese-like carboxyl-terminal domain of human MOCS3 provides
            direct evidence for the formation of persulfide on cysteine residue
            412.
REFERENCE   8  (residues 1 to 460)
  AUTHORS   Matthies A, Rajagopalan KV, Mendel RR and Leimkuhler S.
  TITLE     Evidence for the physiological role of a rhodanese-like protein for
            the biosynthesis of the molybdenum cofactor in humans
  JOURNAL   Proc Natl Acad Sci U S A 101 (16), 5946-5951 (2004)
   PUBMED   15073332
  REMARK    GeneRIF: MOCS3 protein is believed to catalyze both the adenylation
            and the subsequent generation of a thiocarboxylate group at the C
            terminus of the smaller subunit of molybdopterin synthase
REFERENCE   9  (residues 1 to 460)
  AUTHORS   Johnson JL, Coyne KE, Rajagopalan KV, Van Hove JL, Mackay M, Pitt J
            and Boneh A.
  TITLE     Molybdopterin synthase mutations in a mild case of molybdenum
            cofactor deficiency
  JOURNAL   Am J Med Genet 104 (2), 169-173 (2001)
   PUBMED   11746050
REFERENCE   10 (residues 1 to 460)
  AUTHORS   Misko,A., Mahtani,K., Abbott,J., Schwarz,G. and Atwal,P.
  TITLE     Molybdenum Cofactor Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   34870926
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB452633.1, AF102544.1,
            BC015939.2, HY215239.1, BY995583.1, BQ188547.1, AI942426.1 and
            AL034553.12.
            
            Summary: Molybdenum cofactor (MoCo) is necessary for the function
            of all molybdoenzymes. The protein encoded by this gene adenylates
            and activates molybdopterin synthase, an enzyme required for
            biosynthesis of MoCo. This gene contains no introns. A pseudogene
            of this gene is present on chromosome 14. [provided by RefSeq, Nov
            2012].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: SRR1803617.267477.1, SRR1803613.28578.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000244051.3/ ENSP00000244051.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..460
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.13"
     Protein         1..460
                     /product="adenylyltransferase and sulfurtransferase MOCS3"
                     /EC_number="2.7.7.80"
                     /EC_number="2.8.1.11"
                     /note="UBA4, ubiquitin-activating enzyme E1 homolog; MPT
                     synthase sulfurylase; ubiquitin-like modifier activating
                     enzyme 4; molybdopterin synthase sulfurylase; molybdenum
                     cofactor synthesis protein 3"
                     /calculated_mol_wt=49538
     Region          62..285
                     /region_name="ThiF_MoeB_HesA_family"
                     /note="ThiF_MoeB_HesA. Family of E1-like enzymes involved
                     in molybdopterin and thiamine biosynthesis family. The
                     common reaction mechanism catalyzed by MoeB and ThiF, like
                     other E1 enzymes, begins with a nucleophilic attack of the
                     C-terminal carboxylate of MoaD...; cd00757"
                     /db_xref="CDD:238386"
     Site            order(89,91,93,113,115,124,137,179,185)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:238386"
     Region          327..460
                     /region_name="RHOD_ThiF"
                     /note="Member of the Rhodanese Homology Domain
                     superfamily. This CD includes several putative
                     molybdopterin synthase sulfurylases including the
                     molybdenum cofactor biosynthetic protein (CnxF) of
                     Aspergillus nidulans and the molybdenum cofactor synthesis
                     protein...; cd01526"
                     /db_xref="CDD:238784"
     Site            412
                     /site_type="active"
                     /note="active site residue [active]"
                     /db_xref="CDD:238784"
     CDS             1..460
                     /gene="MOCS3"
                     /gene_synonym="UBA4"
                     /coded_by="NM_014484.5:26..1408"
                     /db_xref="CCDS:CCDS13435.1"
                     /db_xref="GeneID:27304"
                     /db_xref="HGNC:HGNC:15765"
                     /db_xref="MIM:609277"
ORIGIN      
        1 masreevlal qaevaqreee lnslkqklas allaeqepqp erlvpvsplp pkaalsrdei
       61 lrysrqlvlp elgvhgqlrl gtacvlivgc gglgcplaqy laaagvgrlg lvdydvvems
      121 nlarqvlhge alagqakafs aaaslrrlns avecvpytqa ltpataldlv rrydvvadcs
      181 dnvptrylvn dacvlagrpl vsasalrfeg qitvyhydgg pcyrcifpqp ppaetvtnca
      241 dggvlgvvtg vlgclqalev lkiaaglgps ysgslllfda lrghfrsirl rsrrldcaac
      301 gerptvtdll dyeafcgssa tdkcrslqll speervsvtd ykrlldsgaf hllldvrpqv
      361 evdicrlpha lhiplkhler rdaeslkllk eaiweekqgt qegaavpiyv icklgndsqk
      421 avkilqslsa aqeldpltvr dvvgglmawa akidgtfpqy
//
LOCUS       NP_005123                547 aa            linear   PRI 15-MAR-2023
DEFINITION  meiotic recombination protein REC8 homolog [Homo sapiens].
ACCESSION   NP_005123
VERSION     NP_005123.2
DBSOURCE    REFSEQ: accession NM_005132.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 547)
  AUTHORS   He S, Liu D and Chen Z.
  TITLE     REC8 inhibits proliferation, migration and invasion of breast
            cancer cells by targeting CDC20
  JOURNAL   Mol Med Rep 26 (1) (2022)
   PUBMED   35616161
  REMARK    GeneRIF: REC8 inhibits proliferation, migration and invasion of
            breast cancer cells by targeting CDC20.
REFERENCE   2  (residues 1 to 547)
  AUTHORS   Tucker EJ, Bell KM, Robevska G, van den Bergen J, Ayers KL,
            Listyasari N, Faradz SM, Dulon J, Bakhshalizadeh S, Sreenivasan R,
            Nouyou B, Carre W, Akloul L, Duros S, Domin-Bernhard M,
            Belaud-Rotureau MA, Touraine P, Jaillard S and Sinclair AH.
  TITLE     Meiotic genes in premature ovarian insufficiency: variants in HROB
            and REC8 as likely genetic causes
  JOURNAL   Eur J Hum Genet 30 (2), 219-228 (2022)
   PUBMED   34707299
  REMARK    GeneRIF: Meiotic genes in premature ovarian insufficiency: variants
            in HROB and REC8 as likely genetic causes.
REFERENCE   3  (residues 1 to 547)
  AUTHORS   Han J, Bai Y, Wang J, Xie XL, Li AD, Ding Q, Cui ZJ, Yin J, Jiang
            XY and Jiang HQ.
  TITLE     REC8 promotes tumor migration, invasion and angiogenesis by
            targeting the PKA pathway in hepatocellular carcinoma
  JOURNAL   Clin Exp Med 21 (3), 479-492 (2021)
   PUBMED   33677646
  REMARK    GeneRIF: REC8 promotes tumor migration, invasion and angiogenesis
            by targeting the PKA pathway in hepatocellular carcinoma.
REFERENCE   4  (residues 1 to 547)
  AUTHORS   Hou H, Kyriacou E, Thadani R, Klutstein M, Chapman JH and Cooper
            JP.
  TITLE     Centromeres are dismantled by foundational meiotic proteins Spo11
            and Rec8
  JOURNAL   Nature 591 (7851), 671-676 (2021)
   PUBMED   33658710
  REMARK    GeneRIF: Centromeres are dismantled by foundational meiotic
            proteins Spo11 and Rec8.
REFERENCE   5  (residues 1 to 547)
  AUTHORS   Liu M, Xu W, Su M and Fan P.
  TITLE     REC8 suppresses tumor angiogenesis by inhibition of
            NF-kappaB-mediated vascular endothelial growth factor expression in
            gastric cancer cells
  JOURNAL   Biol Res 53 (1), 41 (2020)
   PUBMED   32958054
  REMARK    GeneRIF: REC8 suppresses tumor angiogenesis by inhibition of
            NF-kappaB-mediated vascular endothelial growth factor expression in
            gastric cancer cells.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 547)
  AUTHORS   Xu H, Beasley MD, Warren WD, van der Horst GT and McKay MJ.
  TITLE     Absence of mouse REC8 cohesin promotes synapsis of sister
            chromatids in meiosis
  JOURNAL   Dev Cell 8 (6), 949-961 (2005)
   PUBMED   15935783
  REMARK    GeneRIF: The mouse ortholog of REC8L1 is required for proper
            synapsis of homologous chromosomes during meiosis
REFERENCE   7  (residues 1 to 547)
  AUTHORS   Prieto I, Tease C, Pezzi N, Buesa JM, Ortega S, Kremer L, Martinez
            A, Martinez-A C, Hulten MA and Barbero JL.
  TITLE     Cohesin component dynamics during meiotic prophase I in mammalian
            oocytes
  JOURNAL   Chromosome Res 12 (3), 197-213 (2004)
   PUBMED   15125634
REFERENCE   8  (residues 1 to 547)
  AUTHORS   Lee J, Iwai T, Yokota T and Yamashita M.
  TITLE     Temporally and spatially selective loss of Rec8 protein from
            meiotic chromosomes during mammalian meiosis
  JOURNAL   J Cell Sci 116 (Pt 13), 2781-2790 (2003)
   PUBMED   12759374
REFERENCE   9  (residues 1 to 547)
  AUTHORS   Schleiffer A, Kaitna S, Maurer-Stroh S, Glotzer M, Nasmyth K and
            Eisenhaber F.
  TITLE     Kleisins: a superfamily of bacterial and eukaryotic SMC protein
            partners
  JOURNAL   Mol Cell 11 (3), 571-575 (2003)
   PUBMED   12667442
REFERENCE   10 (residues 1 to 547)
  AUTHORS   Parisi S, McKay MJ, Molnar M, Thompson MA, van der Spek PJ, van
            Drunen-Schoenmaker E, Kanaar R, Lehmann E, Hoeijmakers JH and Kohli
            J.
  TITLE     Rec8p, a meiotic recombination and sister chromatid cohesion
            phosphoprotein of the Rad21p family conserved from fission yeast to
            humans
  JOURNAL   Mol Cell Biol 19 (5), 3515-3528 (1999)
   PUBMED   10207075
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK001435.1, AL136295.3 and
            AA496891.1.
            On Sep 30, 2006 this sequence version replaced NP_005123.1.
            
            Summary: This gene encodes a member of the kleisin family of SMC
            (structural maintenance of chromosome) protein partners. The
            protein localizes to the axial elements of chromosomes during
            meiosis in both oocytes and spermatocytes. In the mouse, the
            homologous protein is a key component of the meiotic cohesion
            complex, which regulates sister chromatid cohesion and
            recombination between homologous chromosomes. Multiple
            alternatively spliced variants, encoding the same protein, have
            been found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.40105.1,
                                           SRR3476690.215661.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..547
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     Protein         1..547
                     /product="meiotic recombination protein REC8 homolog"
                     /note="recombination and sister chromatid cohesion protein
                     homolog; human homolog of rad21, S. pombe; meiotic
                     recombination protein REC8-like 1; cohesion rec8p; meiotic
                     recombination and sister chromatid cohesion phosphoprotein
                     of the rad21p family; cohesin Rec8p; REC8 homolog;
                     kleisin-alpha"
                     /calculated_mol_wt=62483
     Region          1..113
                     /region_name="Rad21_Rec8_N"
                     /note="N-terminus of Rad21 / Rec8 like protein; pfam04825"
                     /db_xref="CDD:428144"
     Site            148
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8C5S7; propagated from
                     UniProtKB/Swiss-Prot (O95072.1)"
     Region          278..301
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95072.1)"
     Region          306..373
                     /region_name="Rad21_Rec8_M_Rec8"
                     /note="Middle HEAT-repeat binding domain found in Homo
                     sapiens meiotic recombination protein REC8 homolog and
                     similar proteins; cd21794"
                     /db_xref="CDD:439296"
     Site            order(306,309..316,319,322..323,328..335,345,348..353,
                     365..366,368..373)
                     /site_type="other"
                     /note="putative HEAT-repeat binding site [polypeptide
                     binding]"
                     /db_xref="CDD:439296"
     Region          492..546
                     /region_name="Rad21_Rec8"
                     /note="Conserved region of Rad21 / Rec8 like protein;
                     pfam04824"
                     /db_xref="CDD:335912"
     CDS             1..547
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /coded_by="NM_005132.3:373..2016"
                     /db_xref="CCDS:CCDS41932.1"
                     /db_xref="GeneID:9985"
                     /db_xref="HGNC:HGNC:16879"
                     /db_xref="MIM:608193"
ORIGIN      
        1 mfyypnvlqr htgcfatiwl aatrgsrlvk reylrvnvvk tceeilnyvl vrvqppqpgl
       61 prprfslyls aqlqigvirv ysqqcqylve diqhilerlh raqlqiridm etelpslllp
      121 nhlammetle dapdpffgmm svdprlpspf dipqirhlle aaiperveei ppevptepre
      181 peripvtvlp peaitileae pirmleiege relpevsrre ldlliaeeee ailleiprlp
      241 ppapaevegi gealgpeelr ltgwepgall mevtppeelr lpappsperr ppvpppprrr
      301 rrrrllfwdk etqispekfq eqlqtrahcw ecpmvqpper tirgpaelfr tptlsgwlpp
      361 ellglwthca qpppkalrre lpeeaaaeee rrkievpsei evprealeps vplmvsleis
      421 leaaeeeksr islippeerw awpeveapea palpvvpelp evpmemplvl ppelellsle
      481 avhravalel qanrepdfss lvsplsprrm aarvfylllv lsaqqilhvk qekpygrlli
      541 qpgprfh
//
LOCUS       NP_277022                526 aa            linear   PRI 16-MAR-2023
DEFINITION  cyclin-dependent kinase 11B isoform 3 [Homo sapiens].
ACCESSION   NP_277022 XP_001713787 XP_001713800 XP_001716037 XP_001716070
            XP_001716089 XP_001716107
VERSION     NP_277022.1
DBSOURCE    REFSEQ: accession NM_033487.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 526)
  AUTHORS   Blazek D.
  TITLE     Therapeutic potential of CDK11 in cancer
  JOURNAL   Clin Transl Med 13 (3), e1201 (2023)
   PUBMED   36855776
  REMARK    GeneRIF: Therapeutic potential of CDK11 in cancer.
REFERENCE   2  (residues 1 to 526)
  AUTHORS   An S, Kwon OS, Yu J and Jang SK.
  TITLE     A cyclin-dependent kinase, CDK11/p58, represses cap-dependent
            translation during mitosis
  JOURNAL   Cell Mol Life Sci 77 (22), 4693-4708 (2020)
   PUBMED   32030451
  REMARK    GeneRIF: A cyclin-dependent kinase, CDK11/p58, represses
            cap-dependent translation during mitosis.
REFERENCE   3  (residues 1 to 526)
  AUTHORS   Ou D, Chen L, He J, Rong Z, Gao J, Li Z, Liu L, Tang F, Li J, Deng
            Y and Sun L.
  TITLE     CDK11 negatively regulates Wnt/beta-catenin signaling in the
            endosomal compartment by affecting microtubule stability
  JOURNAL   Cancer Biol Med 17 (2), 328-342 (2020)
   PUBMED   32587772
  REMARK    GeneRIF: CDK11 negatively regulates Wnt/beta-catenin signaling in
            the endosomal compartment by affecting microtubule stability.
REFERENCE   4  (residues 1 to 526)
  AUTHORS   Gajduskova P, Ruiz de Los Mozos I, Rajecky M, Hluchy M, Ule J and
            Blazek D.
  TITLE     CDK11 is required for transcription of replication-dependent
            histone genes
  JOURNAL   Nat Struct Mol Biol 27 (5), 500-510 (2020)
   PUBMED   32367068
  REMARK    GeneRIF: CDK11 is required for transcription of
            replication-dependent histone genes.
REFERENCE   5  (residues 1 to 526)
  AUTHORS   Feng Y, Liao Y, Zhang J, Shen J, Shao Z, Hornicek F and Duan Z.
  TITLE     Transcriptional activation of CBFbeta by CDK11p110 is necessary to
            promote osteosarcoma cell proliferation
  JOURNAL   Cell Commun Signal 17 (1), 125 (2019)
   PUBMED   31610798
  REMARK    GeneRIF: Transcriptional activation of CBFbeta by CDK11(p110) is
            necessary to promote osteosarcoma cell proliferation
            Erratum:[Cell Commun Signal. 2019 Oct 29;17(1):138. PMID: 31665012]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 526)
  AUTHORS   White PS, Maris JM, Beltinger C, Sulman E, Marshall HN, Fujimori M,
            Kaufman BA, Biegel JA, Allen C, Hilliard C, Valentine MB, Look AT,
            Enomoto H, Sakiyama S and Brodeur GM.
  TITLE     A region of consistent deletion in neuroblastoma maps within human
            chromosome 1p36.2-36.3
  JOURNAL   Proc Natl Acad Sci U S A 92 (12), 5520-5524 (1995)
   PUBMED   7777541
REFERENCE   7  (residues 1 to 526)
  AUTHORS   Lahti JM, Valentine M, Xiang J, Jones B, Amann J, Grenet J,
            Richmond G, Look AT and Kidd VJ.
  TITLE     Alterations in the PITSLRE protein kinase gene complex on
            chromosome 1p36 in childhood neuroblastoma
  JOURNAL   Nat Genet 7 (3), 370-375 (1994)
   PUBMED   7920654
REFERENCE   8  (residues 1 to 526)
  AUTHORS   Eipers PG, Lahti JM and Kidd VJ.
  TITLE     Structure and expression of the human p58clk-1 protein kinase
            chromosomal gene
  JOURNAL   Genomics 13 (3), 613-621 (1992)
   PUBMED   1639388
REFERENCE   9  (residues 1 to 526)
  AUTHORS   Eipers PG, Barnoski BL, Han J, Carroll AJ and Kidd VJ.
  TITLE     Localization of the expressed human p58 protein kinase chromosomal
            gene to chromosome 1p36 and a highly related sequence to chromosome
            15
  JOURNAL   Genomics 11 (3), 621-629 (1991)
   PUBMED   1774066
REFERENCE   10 (residues 1 to 526)
  AUTHORS   Bunnell BA, Heath LS, Adams DE, Lahti JM and Kidd VJ.
  TITLE     Increased expression of a 58-kDa protein kinase leads to changes in
            the CHO cell cycle
  JOURNAL   Proc Natl Acad Sci U S A 87 (19), 7467-7471 (1990)
   PUBMED   2217177
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1991 Mar 15;88(6):2612]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC362247.1, BC140714.1,
            AK000081.1, DB516340.1, AA778148.1 and FO704657.2.
            On or before Mar 29, 2008 this sequence version replaced
            XP_001716089.1, XP_001716037.1, XP_001716107.1, XP_001716070.1,
            XP_001713787.1, XP_001713800.1.
            
            Summary: This gene encodes a member of the serine/threonine protein
            kinase family. Members of this kinase family are known to be
            essential for eukaryotic cell cycle control. Due to a segmental
            duplication, this gene shares very high sequence identity with a
            neighboring gene. These two genes are frequently deleted or altered
            in neuroblastoma. The protein kinase encoded by this gene can be
            cleaved by caspases and may play a role in cell apoptosis.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Apr 2014].
            
            Transcript Variant: This variant (3) differs in its 5' UTR and uses
            a downstream start codon, compared to variant 1. The encoded
            isoform (3) has a shorter N-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF067513.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..526
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     Protein         1..526
                     /product="cyclin-dependent kinase 11B isoform 3"
                     /EC_number="2.7.11.22"
                     /note="cell division cycle 2-like 1 (PITSLRE proteins);
                     CDC-related protein kinase p58; PITSLRE
                     serine/threonine-protein kinase CDC2L1; cell division
                     protein kinase 11B; galactosyltransferase-associated
                     protein kinase p58/GTA; p58 CLK-1"
                     /calculated_mol_wt=59142
     Region          163..454
                     /region_name="STKc_CDC2L1"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Cell Division Cycle 2-like 1; cd07843"
                     /db_xref="CDD:173741"
     Site            order(175..178,183,196,198,215,229,247..250,253,255..256,
                     293,295,297..298,300,311,314,326,328..331,333,371..372)
                     /site_type="active"
                     /db_xref="CDD:173741"
     Site            order(175..178,183,196,198,229,247..250,253,256,297..298,
                     300,311)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:173741"
     Site            order(207..209,211,214..215,217..218,221..222,234,236,243,
                     282,285..288,316,318..321,325..326,440,444..446)
                     /site_type="other"
                     /note="CDK/cyclin interface [polypeptide binding]"
                     /db_xref="CDD:173741"
     Site            order(215,255,293,295,314,326,328..331,333,371..372)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:173741"
     Site            order(310..321,323..333)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:173741"
     CDS             1..526
                     /gene="CDK11B"
                     /gene_synonym="CDC2L1; CDK11; CDK11-p110; CDK11-p46;
                     CDK11-p58; CLK-1; p58; p58CDC2L1; p58CLK-1; PITSLREA;
                     PK58"
                     /coded_by="NM_033487.3:613..2193"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:984"
                     /db_xref="HGNC:HGNC:1729"
                     /db_xref="MIM:176873"
ORIGIN      
        1 meerdllsdl qdisdserkt ssaesssaes gsgseeeeee eeeeeeegst seeseeeeee
       61 eeeeeeetgs nseeaseqsa eevseeemse deerenenhl lvvpesrfdr dsgeseeaee
      121 evgegtpqss altegdyvpd spalspielk qelpkylpal qgcrsveefq clnrieegty
      181 gvvyrakdkk tdeivalkrl kmekekegfp itslreinti lkaqhpnivt vreivvgsnm
      241 dkiyivmnyv ehdlkslmet mkqpflpgev ktlmiqllrg vkhlhdnwil hrdlktsnll
      301 lshagilkvg dfglareygs plkaytpvvv tlwyrapell lgakeystav dmwsvgcifg
      361 elltqkplfp gkseidqink vfkdlgtpse kiwpgyselp avkkmtfseh pynnlrkrfg
      421 allsdqgfdl mnkfltyfpg rrisaedglk heyfretplp idpsmfptwp akseqqrvkr
      481 gtsprppegg lgysqlgddd lketgfhltt tnqgasaagp gfslkf
//
LOCUS       NP_001136236            1957 aa            linear   PRI 18-MAR-2023
DEFINITION  protocadherin-15 isoform CD1-2 precursor [Homo sapiens].
ACCESSION   NP_001136236
VERSION     NP_001136236.1
DBSOURCE    REFSEQ: accession NM_001142764.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1957)
  AUTHORS   Zhen Y, Cullen CL, Ricci R, Summers BS, Rehman S, Ahmed ZM, Foster
            AY, Emery B, Gasperini R and Young KM.
  TITLE     Protocadherin 15 suppresses oligodendrocyte progenitor cell
            proliferation and promotes motility through distinct signalling
            pathways
  JOURNAL   Commun Biol 5 (1), 511 (2022)
   PUBMED   35637313
  REMARK    GeneRIF: Protocadherin 15 suppresses oligodendrocyte progenitor
            cell proliferation and promotes motility through distinct
            signalling pathways.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1957)
  AUTHORS   Choudhary D, Narui Y, Neel BL, Wimalasena LN, Klanseck CF,
            De-la-Torre P, Chen C, Araya-Secchi R, Tamilselvan E and Sotomayor
            M.
  TITLE     Structural determinants of protocadherin-15 mechanics and function
            in hearing and balance perception
  JOURNAL   Proc Natl Acad Sci U S A 117 (40), 24837-24848 (2020)
   PUBMED   32963095
  REMARK    GeneRIF: Structural determinants of protocadherin-15 mechanics and
            function in hearing and balance perception.
REFERENCE   3  (residues 1 to 1957)
  AUTHORS   Ahmed ZM, Riazuddin S, Aye S, Ali RA, Venselaar H, Anwar S,
            Belyantseva PP, Qasim M, Riazuddin S and Friedman TB.
  TITLE     Gene structure and mutant alleles of PCDH15: nonsyndromic deafness
            DFNB23 and type 1 Usher syndrome
  JOURNAL   Hum Genet 124 (3), 215-223 (2008)
   PUBMED   18719945
  REMARK    GeneRIF: study of PCDH15 mutations in nonsyndromic deafness DFNB23
            and type 1 Usher syndrome
REFERENCE   4  (residues 1 to 1957)
  AUTHORS   Baux D, Faugere V, Larrieu L, Le Guedard-Mereuze S, Hamroun D,
            Beroud C, Malcolm S, Claustres M and Roux AF.
  TITLE     UMD-USHbases: a comprehensive set of databases to record and
            analyse pathogenic mutations and unclassified variants in seven
            Usher syndrome causing genes
  JOURNAL   Hum Mutat 29 (8), E76-E87 (2008)
   PUBMED   18484607
REFERENCE   5  (residues 1 to 1957)
  AUTHORS   Alagramam KN, Miller ND, Adappa ND, Pitts DR, Heaphy JC, Yuan H and
            Smith RJ.
  TITLE     Promoter, alternative splice forms, and genomic structure of
            protocadherin 15
  JOURNAL   Genomics 90 (4), 482-492 (2007)
   PUBMED   17706913
  REMARK    GeneRIF: Both mouse and human protocadherin 15 genes have complex
            genomic structures and transcription control mechanisms.
REFERENCE   6  (residues 1 to 1957)
  AUTHORS   Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy
            CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C,
            Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP
            and Smith RJ.
  TITLE     Mutations in the novel protocadherin PCDH15 cause Usher syndrome
            type 1F
  JOURNAL   Hum Mol Genet 10 (16), 1709-1718 (2001)
   PUBMED   11487575
  REMARK    GeneRIF: Mutations cause Usher syndrome type 1F. Protocadherins are
            essential for maintenance of normal retinal and cochlear function.
            Erratum:[Hum Mol Genet 2001 Oct 15;10(22):2603. Hagemen GS
            [corrected to Hageman GS]]
REFERENCE   7  (residues 1 to 1957)
  AUTHORS   Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ,
            Morell RJ, Friedman TB, Riazuddin S and Wilcox ER.
  TITLE     Mutations of the protocadherin gene PCDH15 cause Usher syndrome
            type 1F
  JOURNAL   Am J Hum Genet 69 (1), 25-34 (2001)
   PUBMED   11398101
REFERENCE   8  (residues 1 to 1957)
  AUTHORS   Alagramam KN, Murcia CL, Kwon HY, Pawlowski KS, Wright CG and
            Woychik RP.
  TITLE     The mouse Ames waltzer hearing-loss mutant is caused by mutation of
            Pcdh15, a novel protocadherin gene
  JOURNAL   Nat Genet 27 (1), 99-102 (2001)
   PUBMED   11138007
REFERENCE   9  (residues 1 to 1957)
  AUTHORS   Shearer,A.E., Hildebrand,M.S. and Smith,R.J.H.
  TITLE     Hereditary Hearing Loss and Deafness Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
REFERENCE   10 (residues 1 to 1957)
  AUTHORS   Koenekoop,R.K., Arriaga,M.A., Trzupek,K.M. and Lentz,J.J.
  TITLE     Usher Syndrome Type I
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301442
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC051618.7, AL356114.12,
            AL353784.15, AL360214.19, AC013737.5, AC024073.7, AC027671.9,
            AC016817.6 and AL365496.15.
            
            Summary: This gene is a member of the cadherin superfamily. Family
            members encode integral membrane proteins that mediate
            calcium-dependent cell-cell adhesion. It plays an essential role in
            maintenance of normal retinal and cochlear function. Mutations in
            this gene result in hearing loss and Usher Syndrome Type IF
            (USH1F). Extensive alternative splicing resulting in multiple
            isoforms has been observed in the mouse ortholog. Similar
            alternatively spliced transcripts are inferred to occur in human,
            and additional variants are likely to occur. [provided by RefSeq,
            Dec 2008].
            
            Transcript Variant: This variant (B) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant A. The resulting
            isoform (CD1-2) lacks a 5-aa segment near the N-terminus, compared
            to isoform CD1-1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on orthologous data.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1957
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.1"
     Protein         1..1957
                     /product="protocadherin-15 isoform CD1-2 precursor"
                     /note="cadherin-related family member 15"
                     /calculated_mol_wt=213375
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2983
     mat_peptide     27..1957
                     /product="protocadherin-15 isoform CD1-2"
                     /calculated_mol_wt=213375
     Region          31..140
                     /region_name="ECD"
                     /note="Extracellular Cadherin domain; pfam18432"
                     /db_xref="CDD:408229"
     Site            52
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Site            97
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          151..240
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            201
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          305..393
                     /region_name="CA"
                     /note="Cadherin repeats; smart00112"
                     /db_xref="CDD:214520"
     Region          399..505
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(406..407,470,472,501,503..504)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            419
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          513..609
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(520..521,572,574,607,609)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            559
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          621..713
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(627..628,677,679,709,711..712)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            662
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          722..815
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            724
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Site            order(729..730,778,780,811,813..814)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            768
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Site            821
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          823..921
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(830..831,881,883,918,920..921)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            851
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          930..1027
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Region          1045..1140
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(1047..1048,1096,1098,1136,1138..1139)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Site            1064
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Site            1084
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          1149..1243
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            1175
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96QU1.2)"
     Site            1377..1397
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          1426..1446
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          1603..1625
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          1747..1768
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QU1.2)"
     Region          1930..1957
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QU1.2)"
     CDS             1..1957
                     /gene="PCDH15"
                     /gene_synonym="CDHR15; DFNB23; USH1F"
                     /coded_by="NM_001142764.2:336..6209"
                     /note="isoform CD1-2 precursor is encoded by transcript
                     variant B"
                     /db_xref="CCDS:CCDS44404.1"
                     /db_xref="GeneID:65217"
                     /db_xref="HGNC:HGNC:14674"
                     /db_xref="MIM:605514"
ORIGIN      
        1 mfrqfylwtc lasgiilgsl feiclgqydd dcklarggpp ativaidees rngtilvdnm
       61 likgtaggpd ptielslkdn vdywvlmdpv kqmlflnstg rvldrdppmn ihsivvqvqc
      121 inkkvgtiiy hevrivvrdr ndnsptfkhe syyatvnelt pvgttiftgf sgdngatdid
      181 dgpngqieyv iqynpddpts ndtfeiplml tgnivlrkrl nyedktryfv iiqandraqn
      241 lnerrttttt ltvdvldgdd lgpmflpcvl vpntrdcrpl tyqaaipelr tpeelnpiiv
      301 tppiqaidqd rniqppsdrp gilysilvgt pedyprffhm hprtaelsll epvnrdfhqk
      361 fdlvikaeqd nghplpafag lhieildenn qspyftmpsy qgyilesapv gatisdslnl
      421 tsplrivald kdiedtkdpe lhlflndyts vftvtqtgit ryltllqpvd reeqqtytfs
      481 itafdgvqes epvivniqvm dandntptfp eisydvyvyt dmrpgdsviq ltavdadegs
      541 ngeityeilv gaqgdfiink ttglitiapg vemivgrtya ltvqaadnap paerrnsict
      601 vyievlppnn qspprfpqlm ysleiseamr vgavllnlqa tdregdsity aiengdpqrv
      661 fnlsettgil tlgkaldres tdryiliita sdgrpdgtst atvnivvtdv ndnapvfdpy
      721 lprnlsvvee eanafvgqvk atdpdaging qvhyslgnfn nlfritsngs iytavklnre
      781 vrdyyelvvv atdgavhprh stltlaikvl diddnspvft nstytvlvee nlpagttilq
      841 ieakdvdlga nvsyrirspe vkhffalhpf tgelsllrsl dyeafpdqea sitflveafd
      901 iygtmppgia tvtvivkdmn dyppvfskri ykgmvapdav kgtpittvya edadppglpa
      961 srvryrvddv qfpypasife veedsgrvit rvnlneeptt ifklvvvafd dgepvmsssa
     1021 tvkilvlhpg eiprftqeey rpppvselat kgtmvgvisa aainqsivys ivsgneedtf
     1081 ginnitgviy vngpldyetr tsyvlrvqad slevvlanlr vpsksntakv yieiqdennh
     1141 ppvfqkkfyi ggvsedarmf tsvlrvkatd kdtgnysvma yrliippike gkegfvvety
     1201 tgliktamlf hnmrrsyfkf qviatddygk glsgkadvlv svvnqldmqv ivsnvpptlv
     1261 ekkiedltei ldryvqeqip gakvvvesig arrhgdafsl edytkcdltv yaidpqtnra
     1321 idrnelfkfl dgklldinkd fqpyygeggr ileirtpeav tsikkrgesl gytegallal
     1381 afiiilccip ailvvlvsyr qfkvrqaect ktariqaalp aakpavpapa pvaapppppp
     1441 pppgahlyee lgdssmhnlf llyhfqqsrg nnsvsedrkh qqvvmpfssn tieahksahv
     1501 dgslksnklk sarkftflsd eddlsahnpl ykenisqvst nsdisqrtdf vdpfspkiqa
     1561 kskslrgpre kiqrlwsqsv slprrlmrkv pnrpeiidlq qwqgtrqkae nentgictnk
     1621 rgssnplltt eeanltekee irqgetlmie gteqlkslss dssfcfprph fsfstlptvs
     1681 rtvelksepn visspaecsl elspsrpcvl hsslsrretp icmlpieter nifenfahpp
     1741 nispsacplp ppppisppsp ppapaplapp pdispfslfc pppsppsipl plppptffpl
     1801 svstsgpptp pllppfptpl pppppsipcp pppsasflst ecvcitgvkc ttnlmpaeki
     1861 kssmtqlstt tvcktdpqre pkgilrhvkn laeleksvan mysqieknyl rtnvselqtm
     1921 cpsevtnmei tseqnkgsln nivegtekqs hsqstsl
//
LOCUS       NP_001166926             397 aa            linear   PRI 18-MAR-2023
DEFINITION  pyruvate dehydrogenase E1 component subunit alpha, somatic form,
            mitochondrial isoform 3 precursor [Homo sapiens].
ACCESSION   NP_001166926
VERSION     NP_001166926.1
DBSOURCE    REFSEQ: accession NM_001173455.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 397)
  AUTHORS   Pinho SA, Costa CF, Deus CM, Pinho SLC, Miranda-Santos I, Afonso G,
            Bagshaw O, Stuart JA, Oliveira PJ and Cunha-Oliveira T.
  TITLE     Mitochondrial and metabolic remodelling in human skin fibroblasts
            in response to glucose availability
  JOURNAL   FEBS J 289 (17), 5198-5217 (2022)
   PUBMED   35213938
REFERENCE   2  (residues 1 to 397)
  AUTHORS   Wang CH, Lu WL, Chiang SL, Tsai TH, Liu SC, Hsieh CH, Su PH, Huang
            CY, Tsai FJ, Lin YJ and Huang YN.
  TITLE     T Cells Mediate Kidney Tubular Injury via Impaired PDHA1 and
            Autophagy in Type 1 Diabetes
  JOURNAL   J Clin Endocrinol Metab 107 (9), 2556-2570 (2022)
   PUBMED   35731579
  REMARK    GeneRIF: T Cells Mediate Kidney Tubular Injury via Impaired PDHA1
            and Autophagy in Type 1 Diabetes.
REFERENCE   3  (residues 1 to 397)
  AUTHORS   Pavuluri H, F A, Menon RN, Nair SS and Sundaram S.
  TITLE     Pyruvate Dehydrogenase Complex Deficiency Due to PDHA1 Mutation-A
            Rare Treatable Cause for Episodic Ataxia in Children
  JOURNAL   Indian J Pediatr 89 (5), 519 (2022)
   PUBMED   35132535
  REMARK    GeneRIF: Pyruvate Dehydrogenase Complex Deficiency Due to PDHA1
            Mutation-A Rare Treatable Cause for Episodic Ataxia in Children.
REFERENCE   4  (residues 1 to 397)
  AUTHORS   Zhang Y, Zhao M, Gao H, Yu G, Zhao Y, Yao F and Yang W.
  TITLE     MAPK signalling-induced phosphorylation and subcellular
            translocation of PDHE1alpha promotes tumour immune evasion
  JOURNAL   Nat Metab 4 (3), 374-388 (2022)
   PUBMED   35315437
  REMARK    GeneRIF: MAPK signalling-induced phosphorylation and subcellular
            translocation of PDHE1alpha promotes tumour immune evasion.
REFERENCE   5  (residues 1 to 397)
  AUTHORS   Zaher DM, Talaat IM, Hussein A, Hachim MY and Omar HA.
  TITLE     Differential expression of pyruvate dehydrogenase E1A and its
            inactive phosphorylated form among breast cancer subtypes
  JOURNAL   Life Sci 284, 119885 (2021)
   PUBMED   34384830
  REMARK    GeneRIF: Differential expression of pyruvate dehydrogenase E1A and
            its inactive phosphorylated form among breast cancer subtypes.
REFERENCE   6  (residues 1 to 397)
  AUTHORS   Ganetzky,R., McCormick,E.M. and Falk,M.J.
  TITLE     Primary Pyruvate Dehydrogenase Complex Deficiency Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   34138529
REFERENCE   7  (residues 1 to 397)
  AUTHORS   De Meirleir L, Lissens W, Vamos E and Liebaers I.
  TITLE     Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair
            insertion mutation in the E1 alpha subunit
  JOURNAL   Hum Genet 88 (6), 649-652 (1992)
   PUBMED   1551669
REFERENCE   8  (residues 1 to 397)
  AUTHORS   Ito M, Huq AH, Naito E, Saijo T, Takeda E and Kuroda Y.
  TITLE     Mutation of E1 alpha gene in a female patient with pyruvate
            dehydrogenase deficiency due to rapid degradation of E1 protein
  JOURNAL   J Inherit Metab Dis 15 (6), 848-856 (1992)
   PUBMED   1338114
REFERENCE   9  (residues 1 to 397)
  AUTHORS   Dahl HH, Brown GK, Brown RM, Hansen LL, Kerr DS, Wexler ID, Patel
            MS, De Meirleir L, Lissens W, Chun K et al.
  TITLE     Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha
            gene
  JOURNAL   Hum Mutat 1 (2), 97-102 (1992)
   PUBMED   1301207
  REMARK    Review article
REFERENCE   10 (residues 1 to 397)
  AUTHORS   Dahl HH, Hansen LL, Brown RM, Danks DM, Rogers JG and Brown GK.
  TITLE     X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in
            heterozygous females: variable manifestation of the same mutation
  JOURNAL   J Inherit Metab Dis 15 (6), 835-847 (1992)
   PUBMED   1293379
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC361191.1, AK296341.1,
            AL732326.4 and R49470.1.
            
            Summary: The pyruvate dehydrogenase (PDH) complex is a
            nuclear-encoded mitochondrial multienzyme complex that catalyzes
            the overall conversion of pyruvate to acetyl-CoA and CO(2), and
            provides the primary link between glycolysis and the tricarboxylic
            acid (TCA) cycle. The PDH complex is composed of multiple copies of
            three enzymatic components: pyruvate dehydrogenase (E1),
            dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase
            (E3). The E1 enzyme is a heterotetramer of two alpha and two beta
            subunits. This gene encodes the E1 alpha 1 subunit containing the
            E1 active site, and plays a key role in the function of the PDH
            complex. Mutations in this gene are associated with pyruvate
            dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene.[provided by RefSeq, Mar
            2010].
            
            Transcript Variant: This variant (3) uses an alternative acceptor
            splice site at one of the coding exons compared to variant 1,
            resulting in a longer isoform (3) compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296341.1, SRR14038196.2302097.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..397
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.12"
     Protein         1..397
                     /product="pyruvate dehydrogenase E1 component subunit
                     alpha, somatic form, mitochondrial isoform 3 precursor"
                     /EC_number="1.2.4.1"
                     /note="pyruvate dehydrogenase E1 component subunit alpha,
                     somatic form, mitochondrial; PDHE1-A type I; pyruvate
                     dehydrogenase alpha 1; pyruvate dehydrogenase (lipoamide)
                     alpha 1; pyruvate dehydrogenase complex, E1-alpha
                     polypeptide 1; pyruvate dehydrogenase E1 alpha 1 subunit"
                     /calculated_mol_wt=41042
     transit_peptide 1..29
                     /calculated_mol_wt=3085
     mat_peptide     30..397
                     /product="pyruvate dehydrogenase E1 component subunit
                     alpha, somatic form, mitochondrial isoform 3"
                     /calculated_mol_wt=41042
     Region          58..377
                     /region_name="PDH_E1_alph_y"
                     /note="pyruvate dehydrogenase E1 component, alpha subunit;
                     TIGR03182"
                     /db_xref="CDD:274473"
     Site            63
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P08559.3)"
     Site            order(88,147,172..173,204,206..209,212,216,220,235..238,
                     252,303,307)
                     /site_type="other"
                     /note="tetramer interface [polypeptide binding]"
                     /db_xref="CDD:238958"
     Site            order(125..126,172,174,202..205,232,234,299)
                     /site_type="other"
                     /note="TPP-binding site [chemical binding]"
                     /db_xref="CDD:238958"
     Site            order(167,169,171,176,179..180,183..184,186..187,190,
                     209..210,216..217,220)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:238958"
     Site            239
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PDK1.
                     /evidence=ECO:0000269|PubMed:11486000,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P08559.3)"
     Site            251
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P08559.3)"
     Site            order(294..300,302..312,321..323)
                     /site_type="phosphorylation"
                     /note="phosphorylation loop region [posttranslational
                     modification]"
                     /db_xref="CDD:238958"
     Site            300
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PDK1, PDK2, PDK3 and PDK4.
                     /evidence=ECO:0000269|PubMed:11486000,
                     ECO:0000269|PubMed:17474719, ECO:0000269|PubMed:19081061;
                     propagated from UniProtKB/Swiss-Prot (P08559.3)"
     Site            302
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P08559.3)"
     Site            307
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PDK1, PDK2, PDK3 and PDK4.
                     /evidence=ECO:0000269|PubMed:11486000,
                     ECO:0000269|PubMed:19081061; propagated from
                     UniProtKB/Swiss-Prot (P08559.3)"
     Site            308
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P08559.3)"
     Site            320
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P08559.3)"
     Site            328
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P08559.3)"
     Site            343
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P08559.3)"
     CDS             1..397
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /coded_by="NM_001173455.2:112..1305"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3"
                     /db_xref="CCDS:CCDS55381.1"
                     /db_xref="GeneID:5160"
                     /db_xref="HGNC:HGNC:8806"
                     /db_xref="MIM:300502"
ORIGIN      
        1 mrkmlaavsr vlsgasqkpa srvlvasrnf andatfeikk cdlhrleegp pvttvltred
       61 glkyyrmmqt vrrmelkadq lykqkiirgf chlcdgqfll pltqeaccvg leaginptdh
      121 litayrahgf tftrglsvre ilaeltgrkg gcakgkggsm hmyaknfygg ngivgaqvpl
      181 gagialacky ngkdevcltl ygdgaanqgq ifeaynmaal wklpcifice nnrygmgtsv
      241 eraaastdyy krgdfipglr vdgmdilcvr eatrfaaayc rsgkgpilme lqtyryhghs
      301 msdpgvsyrt reeiqevrsk sdpimllkdr mvnsnlasve elkeidvevr keiedaaqfa
      361 tadpepplee lgyhiyssdp pfevrganqw ikfksvs
//
LOCUS       XP_016855532             272 aa            linear   PRI 20-MAR-2023
DEFINITION  3'(2'),5'-bisphosphate nucleotidase 1 isoform X4 [Homo sapiens].
ACCESSION   XP_016855532
VERSION     XP_016855532.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017000043.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..272
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..272
                     /product="3'(2'),5'-bisphosphate nucleotidase 1 isoform
                     X4"
                     /calculated_mol_wt=29058
     Region          11..261
                     /region_name="IPPase"
                     /note="Inositol polyphosphate-1-phosphatase, a member of
                     the Mg++ dependent family of inositol monophosphatase-like
                     domains, hydrolyzes the 1' position phosphate from
                     inositol 1,3,4-trisphosphate and inositol
                     1,4-bisphosphate. Members in this group may also...;
                     cd01640"
                     /db_xref="CDD:238818"
     Site            order(51,74..75,81..86,88,159,182..185,188,200,202,
                     206..207,210..211)
                     /site_type="active"
                     /db_xref="CDD:238818"
     CDS             1..272
                     /gene="BPNT1"
                     /gene_synonym="HEL20; PIP"
                     /coded_by="XM_017000043.2:154..972"
                     /db_xref="GeneID:10380"
                     /db_xref="HGNC:HGNC:1096"
                     /db_xref="MIM:604053"
ORIGIN      
        1 massntvlmr lvasaysiaq kagmivrrvi aegdlgivek tcatdlqtka drlaqmsics
       61 slarkfpklt iigeelvvwv dpldgtkeyt eglldnvtvl igiayegkai agvinqpyyn
      121 yeagpdavlg rtiwgvlglg afgfqlkevp agkhiitttr shsnklvtdc vaamnpdavl
      181 rvggagnkii qliegkasay vfaspgckkw dtcapevilh avggkltdih gnvlqyhkdv
      241 khmnsagvla tlrnydyyas rvpesiknal vp
//
LOCUS       XP_047300419             330 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase PLK3 isoform X2 [Homo sapiens].
ACCESSION   XP_047300419
VERSION     XP_047300419.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444463.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..330
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..330
                     /product="serine/threonine-protein kinase PLK3 isoform X2"
                     /calculated_mol_wt=37126
     Region          60..314
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(68..71,74,76,89,91,123,139..142,185,189..190,192,
                     202..203)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     CDS             1..330
                     /gene="PLK3"
                     /gene_synonym="CNK; FNK; PLK-3; PRK"
                     /coded_by="XM_047444463.1:88..1080"
                     /db_xref="GeneID:1263"
                     /db_xref="HGNC:HGNC:2154"
                     /db_xref="MIM:602913"
ORIGIN      
        1 mepaagflsp rpfqraaaap appagpgppp salrgpelem laglptsdpg rlitdprsgr
       61 tylkgrllgk ggfarcyeat dtetgsayav kvipqsrvak phqrekilne ielhrdlqhr
      121 hivrfshhfe dadniyifle lcsrkslahi wkarhtllep evryylrqil sglkylhqrg
      181 ilhrdlklgn ffitenmelk vgdfglaarl eppeqrkkti cgtpnyvape vllrqghgpe
      241 advwslgcvm ytllcgsppf etadlketyr cikqvhytlp aslslparql laailraspr
      301 drpsidqilr hdfftkvrim prrgmrspvw
//
LOCUS       XP_005273181            1172 aa            linear   PRI 20-MAR-2023
DEFINITION  laminin subunit beta-3 isoform X1 [Homo sapiens].
ACCESSION   XP_005273181
VERSION     XP_005273181.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005273124.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1172
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1172
                     /product="laminin subunit beta-3 isoform X1"
                     /calculated_mol_wt=129442
     Region          20..248
                     /region_name="LamNT"
                     /note="Laminin N-terminal domain (domain VI); smart00136"
                     /db_xref="CDD:214532"
     Region          249..304
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domain;
                     laminins are the major noncollagenous components of
                     basement membranes that mediate cell adhesion, growth
                     migration, and differentiation; the laminin-type epidermal
                     growth factor-like module occurs in...; cd00055"
                     /db_xref="CDD:238012"
     Site            order(250,252,259,279,281,290)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          316..366
                     /region_name="Laminin_EGF"
                     /note="Laminin EGF domain; pfam00053"
                     /db_xref="CDD:395007"
     Site            order(316,318,325,343,346,355)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          379..428
                     /region_name="Laminin_EGF"
                     /note="Laminin EGF domain; pfam00053"
                     /db_xref="CDD:395007"
     Site            order(379,381,392,399,401,410)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          431..478
                     /region_name="Laminin_EGF"
                     /note="Laminin EGF domain; pfam00053"
                     /db_xref="CDD:395007"
     Site            order(431,433,444,451,453,462)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          481..534
                     /region_name="Laminin_EGF"
                     /note="Laminin EGF domain; pfam00053"
                     /db_xref="CDD:395007"
     Site            order(481,483,493,500,502,511)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          534..576
                     /region_name="EGF_Lam"
                     /note="Laminin-type epidermal growth factor-like domai;
                     smart00180"
                     /db_xref="CDD:214543"
     Site            order(534,536,546,553,555,564)
                     /site_type="active"
                     /note="EGF-like motif [active]"
                     /db_xref="CDD:238012"
     Region          <600..970
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          <817..1135
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          1102..1172
                     /region_name="cc_LAMB3_C"
                     /note="C-terminal coiled-coil domain found in laminin
                     subunit beta-3 (LAMB3); cd22303"
                     /db_xref="CDD:411974"
     Site            order(1104..1105,1108..1109,1111..1112,1115,1122..1123,
                     1125..1126,1129,1132..1133,1136..1137,1139..1141,
                     1143..1144,1147,1150..1151,1153..1155,1157..1158,
                     1160..1162,1164..1166,1168..1171)
                     /site_type="other"
                     /note="putative trimer interface [polypeptide binding]"
                     /db_xref="CDD:411974"
     CDS             1..1172
                     /gene="LAMB3"
                     /gene_synonym="AI1A; BM600-125KDA; JEB1A; JEB1B; LAM5;
                     LAMNB1"
                     /coded_by="XM_005273124.5:1376..4894"
                     /db_xref="GeneID:3914"
                     /db_xref="HGNC:HGNC:6490"
                     /db_xref="MIM:150310"
ORIGIN      
        1 mrpffllcfa lpgllhaqqa csrgacyppv gdllvgrtrf lrasstcglt kpetyctqyg
       61 ewqmkcckcd srqphnyysh rvenvasssg pmrwwqsqnd vnpvslqldl drrfqlqevm
      121 mefqgpmpag mlierssdfg ktwrvyqyla adctstfprv rqgrpqswqd vrcqslpqrp
      181 narlnggkvq lnlmdlvsgi patqsqkiqe vgeitnlrvn ftrlapvpqr gyhppsayya
      241 vsqlrlqgsc fchghadrca pkpgasagps tavqvhdvcv cqhntagpnc ercapfynnr
      301 pwrpaegqda hecqrcdcng hsetchfdpa vfaasqgayg gvcdncrdht egkncercql
      361 hyfrnrrpga siqetcisce cdpdgavpga pcdpvtgqcv ckehvqgerc dlckpgftgl
      421 tyanpqgchr cdcnilgsrr dmpcdeesgr clclpnvvgp kcdqcapyhw klasgqgcep
      481 cacdphnsls pqcnqftgqc pcregfgglm csaaairqcp drtygdvatg cracdcdfrg
      541 tegpgcdkas grclcrpglt gprcdqcqrg ycnrypvcva chpcfqtyda dlreqalrfg
      601 rlrnataslw sgpgledrgl asrildaksk ieqiravlss pavteqevaq vasailslrr
      661 tlqglqldlp leeetlslpr dlesldrsfn glltmyqrkr eqfekissad psgafrmlst
      721 ayeqsaqaaq qvsdssrlld qlrdsrreae rlvrqagggg gtgspklval rlemsslpdl
      781 tptfnklcgn srqmactpis cpgelcpqdn gtacgsrcrg vlpraggafl magqvaeqlr
      841 gfnaqlqrtr qmiraaeesa sqiqssaqrl etqvsasrsq meedvrrtrl liqqvrdflt
      901 dpdtdaatiq evseavlalw lptdsatvlq kmneiqaiaa rlpnvdlvls qtkqdiarar
      961 rlqaeaeear srahavegqv edvvgnlrqg tvalqeaqdt mqgtsrslrl iqdrvaevqq
     1021 vlrpaeklvt smtkqlgdfw trmeelrhqa rqqgaeavqa qqlaegaseq alsaqegfer
     1081 ikqkyaelkd rlgqssmlge qgariqsvkt eaeelfgetm emmdrmkdme lellrgsqai
     1141 mlrsadltgl ekrveqirdh ingrvlyyat ck
//
LOCUS       XP_047278518            1043 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit
            delta isoform isoform X2 [Homo sapiens].
ACCESSION   XP_047278518
VERSION     XP_047278518.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422562.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1043
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1043
                     /product="phosphatidylinositol 4,5-bisphosphate 3-kinase
                     catalytic subunit delta isoform isoform X2"
                     /calculated_mol_wt=119221
     Region          32..107
                     /region_name="PI3K_p85B"
                     /note="PI3-kinase family, p85-binding domain; pfam02192"
                     /db_xref="CDD:426649"
     Region          175..281
                     /region_name="PI3K_rbd"
                     /note="PI3-kinase family, ras-binding domain; pfam00794"
                     /db_xref="CDD:395642"
     Region          314..481
                     /region_name="C2_PI3K_class_I_beta_delta"
                     /note="C2 domain present in class I beta and delta
                     phosphatidylinositol 3-kinases (PI3Ks); cd08693"
                     /db_xref="CDD:176075"
     Region          505..683
                     /region_name="PI3Ka"
                     /note="Phosphoinositide 3-kinase family, accessory domain
                     (PIK domain); smart00145"
                     /db_xref="CDD:214537"
     Region          675..1041
                     /region_name="PI3Kc_IA_delta"
                     /note="Catalytic domain of Class IA Phosphoinositide
                     3-kinase delta; cd05174"
                     /db_xref="CDD:270718"
     Site            order(751,753..755,757,759,776,778,781,812,824..827,832,
                     835,897,899,909..910)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270718"
     Site            order(819..820,921..922,924,926,992,995)
                     /site_type="other"
                     /note="putative regulatory subunit interface [polypeptide
                     binding]"
                     /db_xref="CDD:270718"
     Site            866
                     /site_type="other"
                     /note="Ras binding site [polypeptide binding]"
                     /db_xref="CDD:270718"
     Site            889..897
                     /site_type="active"
                     /note="catalytic loop [active]"
                     /db_xref="CDD:270718"
     Site            910..934
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270718"
     CDS             1..1043
                     /gene="PIK3CD"
                     /gene_synonym="APDS; IMD14; IMD14A; IMD14B; p110D;
                     P110DELTA; PI3K; ROCHIS"
                     /coded_by="XM_047422562.1:373..3504"
                     /db_xref="GeneID:5293"
                     /db_xref="HGNC:HGNC:8977"
                     /db_xref="MIM:602839"
ORIGIN      
        1 mppgvdcpme fwtkeenqsv vvdfllptgv ylnfpvsrna nlstikqllw hraqyeplfh
       61 mlsgpeayvf tcinqtaeqq eledeqrrlc dvqpflpvlr lvaregdrvk klinsqisll
      121 igkglhefds lcdpevndfr akmcqfceea aarrqqlgwe awlqysfplq lepsaqtwgp
      181 gtlrlpnral lvnvkfegse esftfqvstk dvplalmaca lrkkatvfrq plveqpedyt
      241 lqvngrheyl ygsyplcqfq yicsclhsgl tphltmvhss silamrdeqs npapqvqkpr
      301 akpppipakk pssvslwsle qpfrieliqg skvnadermk lvvqaglfhg nemlcktvss
      361 sevsvcsepv wkqrlefdin icdlprmarl cfalyaviek akkarstkkk skkadcpiaw
      421 anlmlfdykd qlktgercly mwpsvpdekg ellnptgtvr snpntdsaaa lliclpevap
      481 hpvyypalek ilelgrhsec vhvteeelql reilerrgsg elyehekdlv wklrhevqeh
      541 fpealarlll vtkwnkhedv aqmlyllcsw pelpvlsale lldfsfpdch vgsfaikslr
      601 kltddelfqy llqlvqvlky esyldceltk flldralanr kighflfwhl rsemhvpsva
      661 lrfglileay crgsthhmkv lmkqgealsk lkalndfvkl ssqktpkpqt kelmhlcmrq
      721 eaylealshl qspldpstll aevcveqctf mdskmkplwi mysneeagsg gsvgiifkng
      781 ddlrqdmltl qmiqlmdvlw kqegldlrmt pygclptgdr tglievvlrs dtianiqlnk
      841 snmaataafn kdallnwlks knpgealdra ieeftlscag ycvatyvlgi gdrhsdnimi
      901 resgqlfhid fghflgnfkt kfginrervp filtydfvhv iqqgktnnse kferfrgyce
      961 raytilrrhg llflhlfalm raaglpelsc skdiqylkds lalgkteeea lkhfrvkfne
     1021 alreswktkv nwlahnvskd nrq
//
LOCUS       XP_047280045            1236 aa            linear   PRI 20-MAR-2023
DEFINITION  rho guanine nucleotide exchange factor 10-like protein isoform X6
            [Homo sapiens].
ACCESSION   XP_047280045
VERSION     XP_047280045.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424089.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1236
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1236
                     /product="rho guanine nucleotide exchange factor 10-like
                     protein isoform X6"
                     /calculated_mol_wt=135088
     Region          279..463
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(285,289,387,414..415,418..419,421..422,425..426,
                     429..430,433,459,463)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          488..638
                     /region_name="PH_19"
                     /note="PH domain; pfam19057"
                     /db_xref="CDD:436928"
     Region          746..1236
                     /region_name="WD40_2"
                     /note="WD40 repeated domain; pfam19056"
                     /db_xref="CDD:436927"
     Region          884..927
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          935..964
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          973..1003
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     CDS             1..1236
                     /gene="ARHGEF10L"
                     /gene_synonym="GrinchGEF"
                     /coded_by="XM_047424089.1:306..4016"
                     /db_xref="GeneID:55160"
                     /db_xref="HGNC:HGNC:25540"
                     /db_xref="MIM:612494"
ORIGIN      
        1 massnpppqp aigdqlvpgv pgpsseaedd pgeafefdds ddeedtsaal gvpslaperd
       61 tdpplihlds ipvtdpdpaa appgtgvpaw vsngdaadaa fsgarhsswk rkssrridrf
      121 tfpaleedvi yddvpcespd ahqpagaern llyedahrag aprqaedlgw sssefesyse
      181 dsgeeakpev evepakhrvs fqpkmtqlmk aaksgtkdgl ektrmavmrk vsflhrkdvl
      241 gdseeedmgl levsvsdikp papelgpmpe glspqqvvrr hilgsivqse gsyveslkri
      301 lqdyrnplme mepkalsark cqvvffrvke ilhchsmfqi alssrvaewd stekigdlfv
      361 asfsksmvld vysdyvnnft samsiikkac ltkpaflefl krrqvcspdr vtlyglmvkp
      421 iqrfpqfill lqdmlkntpr ghpdrlslql alteletlae klneqkrlad qvaeiqqltk
      481 svsdrsslnk lltsgqrqll lcetltetvy gdrgqliksk errvfllndm lvcaninfkg
      541 qleisslvpl gpkyvvkwnt alpqvqvvev gqdggtydkd nvliqhsgak kasasgqaqn
      601 kvylgpprlf qelqdlqkdl avveqitlli stlhgtyqnl nmtvaqdwcl alqrlmrvke
      661 eeihsankcr lrlllpgkpd ksgrpisfmv vfitpnplsk iswvnrlhla kiglreenqp
      721 gwlcpdedkk skapfwcpil accipafssr alslqlgalv hspvncpllg fsavstslpq
      781 gylwvgggqe gaggqveifs lnrpsprtvk sfplaapvlc meyipeleee aesrdesptv
      841 adpsatvhpt iclglqdgsi llyssvdtgt qclvscrspg lqpvlclrhs pfhllaglqd
      901 gtlaayprts ggvlwdlesp pvcltvgpgp vrtllsleda vwascgprvt vleattlqpq
      961 qsfeahqdea vsvthmvkag sgvwmafssg tsirlfhtet lehlqeinia trttfllpgq
     1021 khlcvtslli cqgllwvgtd qgvivllpvp rlegipkitg kgmvslnghc gpvaflavat
     1081 silapdilrs dqeeaegpra eedkpdgqah epmpdshvgr eltrkkgill qyrlrstahl
     1141 pgpllsmrep apadgaaleh seedgsiyem addpdiwvrs rpcardahrk eicsvaiisg
     1201 gqgyrnfgsa lgssgrqapc getdstlliw qvplml
//
LOCUS       XP_011540078             412 aa            linear   PRI 20-MAR-2023
DEFINITION  protein kinase C zeta type isoform X14 [Homo sapiens].
ACCESSION   XP_011540078
VERSION     XP_011540078.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011541776.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..412
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..412
                     /product="protein kinase C zeta type isoform X14"
                     /calculated_mol_wt=47188
     Region          53..346
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(75..78,81,83,96,98,131,147..150,193,197..198,200,
                     210..211)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     CDS             1..412
                     /gene="PRKCZ"
                     /gene_synonym="PKC-ZETA; PKC2"
                     /coded_by="XM_011541776.2:482..1720"
                     /db_xref="GeneID:5590"
                     /db_xref="HGNC:HGNC:9412"
                     /db_xref="MIM:176982"
ORIGIN      
        1 mdsvmpsqep pvddknedad lpseetdgia yisssrkhds ikddsedlkp vidgmdgiki
       61 sqglglqdfd lirvigrgsy akvllvrlkk ndqiyamkvv kkelvhdded idwvqtekhv
      121 feqassnpfl vglhscfqtt srlflvieyv nggdlmfhmq rqrklpeeha rfyaaeicia
      181 lnflhergii yrdlkldnvl ldadghiklt dygmckeglg pgdttstfcg tpnyiapeil
      241 rgeeygfsvd wwalgvlmfe mmagrspfdi itdnpdmnte dylfqvilek piriprflsv
      301 kashvlkgfl nkdpkerlgc rpqtgfsdik shaffrsidw dlmhrqlrct darttwtprr
      361 cgrtddmdaq tmwmhgrrrh tddsstddsd artprrrgrt ddadaqmtwt hr
//
LOCUS       XP_047289377             193 aa            linear   PRI 20-MAR-2023
DEFINITION  tumor necrosis factor receptor superfamily member 14 isoform X4
            [Homo sapiens].
ACCESSION   XP_047289377
VERSION     XP_047289377.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433421.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..193
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..193
                     /product="tumor necrosis factor receptor superfamily
                     member 14 isoform X4"
                     /calculated_mol_wt=20622
     Region          42..142
                     /region_name="TNFRSF14"
                     /note="Tumor necrosis factor receptor superfamily member
                     14 (TNFRSF14), also known as herpes virus entry mediator
                     (HVEM); cd10582"
                     /db_xref="CDD:276908"
     Region          42..75
                     /region_name="CRD1"
                     /note="CRD1 [structural motif]"
                     /db_xref="CDD:276908"
     Site            order(55..56,58,61,64,68..69,71..75,77,87)
                     /site_type="other"
                     /note="polypeptide ligand binding site [polypeptide
                     binding]"
                     /db_xref="CDD:276908"
     Region          78..119
                     /region_name="CRD2"
                     /note="CRD2 [structural motif]"
                     /db_xref="CDD:276908"
     Region          121..138
                     /region_name="CRD3"
                     /note="CRD3 [structural motif]"
                     /db_xref="CDD:276908"
     CDS             1..193
                     /gene="TNFRSF14"
                     /gene_synonym="ATAR; CD270; HVEA; HVEM; LIGHTR; TR2"
                     /coded_by="XM_047433421.1:295..876"
                     /db_xref="GeneID:8764"
                     /db_xref="HGNC:HGNC:11912"
                     /db_xref="MIM:602746"
ORIGIN      
        1 meppgdwgpp pwrstpktdv lrlvlyltfl gapcyapalp sckedeypvg seccpkcspg
       61 yrvkeacgel tgtvcepcpp gtyiahlngl skclqcqmcd pamglrasrn csrtenavcg
      121 cspghfcivq dgdhcaacra yatsspgqrv qkggtesqdt lcqncppgtf spngtleecq
      181 hqtnrawksq tdl
//
LOCUS       XP_011517740             435 aa            linear   PRI 20-MAR-2023
DEFINITION  proline and serine-rich protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_011517740
VERSION     XP_011517740.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011519438.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..435
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..435
                     /product="proline and serine-rich protein 2 isoform X1"
                     /calculated_mol_wt=45671
     Region          <92..405
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <398..433
                     /region_name="SARG"
                     /note="Specifically androgen-regulated gene protein;
                     pfam15385"
                     /db_xref="CDD:434685"
     CDS             1..435
                     /gene="PROSER2"
                     /gene_synonym="C10orf47"
                     /coded_by="XM_011519438.3:459..1766"
                     /db_xref="GeneID:254427"
                     /db_xref="HGNC:HGNC:23728"
ORIGIN      
        1 mpvthrksda sdmnsdtsps crlrafsrgg slesrssssr srsftlddes lkyltheekd
       61 vllffeetid sldedfeepv lcdggvcclc spsleestss psepedvidl vqpapgagea
      121 eglpegtqaa gpapagkehr kqdaetpppp dppapetlla ppplpstpdp prrelrapsp
      181 pvehprllrs vptplvmaqk isermagnea lsptspfreg rpgewrtpaa rgprsgdpgp
      241 gpshpaqpka prfpsniivt ngaareprrt lsraavsvqe rraqvlatih ghagafpaag
      301 dagegapggg sspervargr glpgpaeslr aggqaprgpa langfpsahe alksapssfa
      361 pagkslcfrp gpalpstrar qsfpgprqpn gaqdwrrads lprpqgitvq fagrgsseea
      421 rrealrklgl lress
//
LOCUS       XP_011538541             274 aa            linear   PRI 20-MAR-2023
DEFINITION  mitoferrin-2 isoform X1 [Homo sapiens].
ACCESSION   XP_011538541
VERSION     XP_011538541.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011540239.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..274
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..274
                     /product="mitoferrin-2 isoform X1"
                     /calculated_mol_wt=30426
     Region          <8..71
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          79..163
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          <189..266
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     CDS             1..274
                     /gene="SLC25A28"
                     /gene_synonym="MFRN2; MRS3/4; MRS4L; NPD016"
                     /coded_by="XM_011540239.2:286..1110"
                     /db_xref="GeneID:81894"
                     /db_xref="HGNC:HGNC:23472"
                     /db_xref="MIM:609767"
ORIGIN      
        1 mgypeaqtrm qslqpdpaar yrnvlealwr iirteglwrp mrglnvtatg agpahalyfa
       61 cyeklkktls dvihpggnsh iangaagcva tllhdaamnp aevvkqrmqm ynspyhrvtd
      121 cvravwqneg agafyrsytt qltmnvpfqa ihfmtyeflq ehfnpqrryn psshvlsgac
      181 agavaaaatt pldvcktlln tqeslalnsh itghitgmas afrtvyqvgg vtayfrgvqa
      241 rviyqipsta iawsvyeffk ylitkrqeew ragk
//
LOCUS       XP_016873605             124 aa            linear   PRI 20-MAR-2023
DEFINITION  p53-regulated apoptosis-inducing protein 1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_016873605
VERSION     XP_016873605.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017018116.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..124
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..124
                     /product="p53-regulated apoptosis-inducing protein 1
                     isoform X4"
                     /calculated_mol_wt=12803
     Region          2..124
                     /region_name="TPIP1"
                     /note="p53-regulated apoptosis-inducing protein 1;
                     pfam15338"
                     /db_xref="CDD:434647"
     CDS             1..124
                     /gene="TP53AIP1"
                     /gene_synonym="P53AIP1"
                     /coded_by="XM_017018116.2:4758..5132"
                     /db_xref="GeneID:63970"
                     /db_xref="HGNC:HGNC:29984"
                     /db_xref="MIM:605426"
ORIGIN      
        1 mgssseasfr saqascsgar rqglgrgdqn lsvmppngra qthtpgwvsd plvlgaqvhg
       61 gcrgiealsv ssgswssatv wiltglglgl srpflpgatv lrdrplgsaf elsydqkkap
      121 lrlq
//
LOCUS       XP_016873680             299 aa            linear   PRI 20-MAR-2023
DEFINITION  syntaxin-3 isoform X1 [Homo sapiens].
ACCESSION   XP_016873680
VERSION     XP_016873680.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017018191.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Apr 5, 2022 this sequence version replaced XP_016873680.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..299
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..299
                     /product="syntaxin-3 isoform X1"
                     /calculated_mol_wt=34161
     Region          44..236
                     /region_name="Syntaxin"
                     /note="pfam00804"
                     /db_xref="CDD:425876"
     Region          204..270
                     /region_name="SNARE"
                     /note="SNARE motif; cl22856"
                     /db_xref="CDD:451431"
     Site            order(232,239,242)
                     /site_type="other"
                     /note="flanking leucine-zipper layers"
                     /db_xref="CDD:277192"
     Site            235
                     /site_type="active"
                     /note="zero layer [active]"
                     /db_xref="CDD:277192"
     CDS             1..299
                     /gene="STX3"
                     /gene_synonym="DIAR12; MVID2; RDMVID; STX3A"
                     /coded_by="XM_017018191.2:13840..14739"
                     /db_xref="GeneID:6809"
                     /db_xref="HGNC:HGNC:11438"
                     /db_xref="MIM:600876"
ORIGIN      
        1 mlqvtvvpsf wklplihpmm kqltqdddtd aveiaidnta fmdeffseie etrlnidkis
       61 ehveeakkly siilsapipe pktkddleql tteikkrann vrnklksmek hieedevrss
      121 adlrirksqh svlsrkfvev mtkyneaqvd frerskgriq rqleitgkkt tdeeleemle
      181 sgnpaiftsg iidsqiskqa lseiegrhkd ivrlessike lhdmfmdiam lvenqgemld
      241 nielnvmhtv dhvekardet kkavkyqsqa rkkliiiivl vvvllgilal iiglsvgln
//
LOCUS       XP_011543526             259 aa            linear   PRI 20-MAR-2023
DEFINITION  syntaxin-5 isoform X2 [Homo sapiens].
ACCESSION   XP_011543526
VERSION     XP_011543526.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011545224.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..259
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..259
                     /product="syntaxin-5 isoform X2"
                     /calculated_mol_wt=29103
     Region          <86..228
                     /region_name="COG5325"
                     /note="t-SNARE complex subunit, syntaxin [Intracellular
                     trafficking and secretion]"
                     /db_xref="CDD:227635"
     Region          170..242
                     /region_name="SNARE_syntaxin5"
                     /note="SNARE motif of syntaxin 5; cd15844"
                     /db_xref="CDD:277197"
     Site            order(171,173..174,176..181,183..185,187..188,190..192,
                     194..195,197..199,201..202,204..209,211..216,218..223,
                     225..227)
                     /site_type="other"
                     /note="heterotetramer interface [polypeptide binding]"
                     /db_xref="CDD:277197"
     Site            201
                     /site_type="other"
                     /note="zero layer"
                     /db_xref="CDD:277197"
     CDS             1..259
                     /gene="STX5"
                     /gene_synonym="SED5; STX5A"
                     /coded_by="XM_011545224.4:162..941"
                     /db_xref="GeneID:6811"
                     /db_xref="HGNC:HGNC:11440"
                     /db_xref="MIM:603189"
ORIGIN      
        1 makrigkdls ntfakleklt ilakrkslfd dkaveieelt yiikqdinsl nkqiaqlqdf
       61 vrakgsqsgr hlqthsntiv vslqsklasm sndfksvlev rtenlkqqrs rreqfsrapv
      121 salplapnhl gggavvlgae shaskdvaid mmdsrtsqql qlideqdsyi qsradtmqni
      181 estivelgsi fqqlahmvke qeetiqride nvlgaqldve aahseilkyf qsvtsnrwlm
      241 vkiflilivf fiifvvfla
//
LOCUS       XP_024304646             833 aa            linear   PRI 20-MAR-2023
DEFINITION  epidermal growth factor receptor kinase substrate 8 isoform X2
            [Homo sapiens].
ACCESSION   XP_024304646
VERSION     XP_024304646.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024448878.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..833
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..833
                     /product="epidermal growth factor receptor kinase
                     substrate 8 isoform X2"
                     /calculated_mol_wt=92983
     Region          75..202
                     /region_name="PTB_EPS8"
                     /note="Epidermal growth factor receptor kinase substrate
                     (EPS8)-like Phosphotyrosine-binding (PTB) domain; cd01210"
                     /db_xref="CDD:269921"
     Site            order(79,158,178)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:269921"
     Site            order(144..149,165,188,192)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269921"
     Region          546..599
                     /region_name="SH3_Eps8"
                     /note="Src Homology 3 domain of Epidermal growth factor
                     receptor kinase substrate 8 and similar proteins; cd11764"
                     /db_xref="CDD:212698"
     Site            order(546..551,553,556,559..561,568..573,575..583,
                     588..591,595..599)
                     /site_type="other"
                     /note="swapped dimer interface [polypeptide binding]"
                     /db_xref="CDD:212698"
     Site            order(553,557..559,576..578,580,589..590,592..595)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212698"
     Region          731..795
                     /region_name="SAM_EPS8-like"
                     /note="SAM domain of EPS8-like subfamily; cd09540"
                     /db_xref="CDD:188939"
     CDS             1..833
                     /gene="EPS8"
                     /gene_synonym="DFNB102"
                     /coded_by="XM_024448878.2:32..2533"
                     /db_xref="GeneID:2059"
                     /db_xref="HGNC:HGNC:3420"
                     /db_xref="MIM:600206"
ORIGIN      
        1 msnlntqvkd tmnghisnhp ssfgmypsqm ngygssptfs qtdrehgskt sakalyeqrk
       61 nyardsvssv sdisqyrveh lttfvldrkd amitvddgir klklldakgk vwtqdmilqv
      121 ddravslidl esknelenfp lntiqhcqav mhscsydsvl alvckeptqn kpdlhlfqcd
      181 evkanlised iesaisdskg gkqkrrpdal rmisnadpsi pppprapapa ppgtvtqvdv
      241 rsrvaawsaw aadqgdfekp rqyheqeetp emmaaridrd vqilnhildd ieffitklqk
      301 aaeafselsk rkknkkgkrk gpgegvltlr akppppdefl dcfqkfkhgf nllaklkshi
      361 qnpsaadlvh flftplnmvv qatggpelas svlspllnkd tidflnytvn gderqlwmsl
      421 ggtwmkarae wpkeqfippy vprfrngwep pmlnfmgatm eqdlyqlaes vanvaehqrk
      481 qeikrlsteh ssvseyhpad gyafssniyt rgshldqgea avafkptsnr hidrnyeplk
      541 tqpkkyaksk ydfvarnnse lsvlkddile ilddrkqwwk vrnasgdsgf vpnnildivr
      601 ppesglgrad ppythtiqkq rmeygprpad tppapspppt papvpvplpp stpapvpvsk
      661 vpanitrqns sssdsggsiv rdsqrhkqlp vdrrksqmee vqdelihrlt igrsaaqkkf
      721 hvprqnvpvi nitydstped vktwlqskgf npvtvnslgv lngaqlfsln kdelrtvcpe
      781 garvysqitv qkaaledssg sselqeimrr rqekisaaas dsgvesfdeg ssh
//
LOCUS       XP_047284661            1498 aa            linear   PRI 20-MAR-2023
DEFINITION  golgin subfamily A member 3 isoform X1 [Homo sapiens].
ACCESSION   XP_047284661
VERSION     XP_047284661.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047428705.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1498
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1498
                     /product="golgin subfamily A member 3 isoform X1"
                     /calculated_mol_wt=167224
     Region          <393..743
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          630..1358
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1498
                     /gene="GOLGA3"
                     /gene_synonym="GCP170; MEA-2"
                     /coded_by="XM_047428705.1:449..4945"
                     /db_xref="GeneID:2802"
                     /db_xref="HGNC:HGNC:4426"
                     /db_xref="MIM:602581"
ORIGIN      
        1 mdgasaeqdg lqedrshsgp sslpeaplkp pgplvppdqq dkvqcaevnr astegespdg
       61 pgqgglcqng ptppfpdpps sldpttspvg pdaspgvagf hdnlrksqgt saegsvrkea
      121 lqslrlslpm qetqlcstds plplekeeqv rlqarkwlee qlkqyrvkrq qerssqpatk
      181 trlfstldpe lmlnpenlpr astlamtkey sflrtsvprg pkvgslglpa hprekktsks
      241 skirsladyr tedsnagnsg gnvpapdstk gslkqnrssa asvvseisls pdtddrlent
      301 slagdsvsev dgndsdsssy ssastrgtyg ilsktvgtqd tpymvngqei padtlgqfps
      361 ikdvlqaaaa ehqdqgqevn gevrsrrdsi cssvslessa aetqeemlqv lkekmrlegq
      421 lealsleasq alkekaelqa qlaalstklq aqvecshssq qrqdslssev dtlkqscwdl
      481 eramtdlqnm leaknaslas snndlqvaee qyqrlmakve dmqrsmlskd ntvhdlrqqm
      541 talqsqlqqv qlerttltsk lkasqaeiss lqsvrqwyqq qlalaqearv rlqgemahiq
      601 vgqmtqagll ehlklenvsl sqqltetqhr smkekgriaa qlqgieadml dqeaafmqiq
      661 eaktmveedl qrrleefege rerlqrmads aasleqqleq vkltllqrdq qlealqqehl
      721 dlmkqltltq ealqsreqsl dalqthydel qarlgelqge aasredticl lqnekiilea
      781 alqaaksgke eldrgarrle egteetsetl eklreelaik sgqvehlqqe taalkkqmqk
      841 ikeqflqqkv mveayrrdat skdqliselk atrkrldsel kelrqelmqv hgekrtaeae
      901 lsrlhrevaq vrqhmadleg hlqsaqkerd emethlqslq fdkeqmvavt eanealkkqi
      961 eelqqearka iteqkqkmrr lgsdltsaqk emktkhkaye navgilsrrl qealaakeaa
     1021 daelgqlraq ggssdsslal heriqaleae lqavshsktl lekelqevia ltsqeleesr
     1081 ekvleledel qesrgfrkki krleesnkkl alelehekgk ltglgqsnaa lrehnsilet
     1141 alakreadlv qlnlqvqavl qrkeeedrqm khlvqalqas lekekekvns lkeqvaaakv
     1201 eaghnrrhfk aaslelsevk kelqakehlv qklqaeaddl qiregkhsqe iaqfqaelae
     1261 araqlqllqk qldeqlskqp vgnqemenlk wevdqkerei qslkqqldlt eqqgrkeleg
     1321 lqqllqnvks elemaqedls mtqkdkfmlq akvselknnm ktllqqnqql kldlrrgaak
     1381 trkepkgeas ssnpatpiki pdcpvpasll eellrpppav skeplknlns clqqlkqemd
     1441 slqrqmeeha ltvheslssw tplepatasp vppgghagpr gdpqrhsqsr askegpge
//
LOCUS       XP_005253777             418 aa            linear   PRI 20-MAR-2023
DEFINITION  DNA repair protein RAD52 homolog isoform X1 [Homo sapiens].
ACCESSION   XP_005253777
VERSION     XP_005253777.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005253720.6
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..418
                     /product="DNA repair protein RAD52 homolog isoform X1"
                     /calculated_mol_wt=46038
     Region          38..199
                     /region_name="rad52"
                     /note="recombination protein rad52; TIGR00607"
                     /db_xref="CDD:129695"
     CDS             1..418
                     /gene="RAD52"
                     /coded_by="XM_005253720.6:1088..2344"
                     /db_xref="GeneID:5893"
                     /db_xref="HGNC:HGNC:9824"
                     /db_xref="MIM:600392"
ORIGIN      
        1 msgteeailg grdshpaagg gsvlcfgqcq ytaeeyqaiq kalrqrlgpe yissrmaggg
       61 qkvcyieghr vinlanemfg yngwahsitq qnvdfvdlnn gkfyvgvcaf vrvqlkdgsy
      121 hedvgygvse glkskalsle karkeavtdg lkralrsfgn algncildkd ylrslnklpr
      181 qlplevdltk akrqdlepsv eearynscrp nmalghpqlq qvtspsrpsh avipadqdcs
      241 srslsssave seathqrklr qkqlqqqfre rmekqqvrvs tpsaekseaa ppappvthst
      301 pvtvseplle kdflagvtqe liktlednse kwavtpdagd gvvkpssrad paqtsdtlal
      361 nnqmvtqnrt phsvchqkpq aksgswdlqt ysadqrttgn weshrksqdm kkrkydps
//
LOCUS       XP_016875541             523 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase 30 isoform X3 [Homo sapiens].
ACCESSION   XP_016875541
VERSION     XP_016875541.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017020052.3
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..523
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..523
                     /product="ubiquitin carboxyl-terminal hydrolase 30 isoform
                     X3"
                     /calculated_mol_wt=58533
     Region          38..506
                     /region_name="Peptidase_C19F"
                     /note="A subfamily of Peptidase C19. Peptidase C19
                     contains ubiquitinyl hydrolases. They are intracellular
                     peptidases that remove ubiquitin molecules from
                     polyubiquinated peptides by cleavage of isopeptide bonds.
                     They hydrolyze bonds involving the carboxyl...; cd02662"
                     /db_xref="CDD:239127"
     Region          <38..>234
                     /region_name="UBP12"
                     /note="Ubiquitin C-terminal hydrolase [Posttranslational
                     modification, protein turnover, chaperones]; COG5560"
                     /db_xref="CDD:227847"
     Site            order(41,46,458,484)
                     /site_type="active"
                     /db_xref="CDD:239127"
     CDS             1..523
                     /gene="USP30"
                     /coded_by="XM_017020052.3:406..1977"
                     /db_xref="GeneID:84749"
                     /db_xref="HGNC:HGNC:20065"
                     /db_xref="MIM:612492"
ORIGIN      
        1 mknwgviggi aaalaagiyv iwgpiterkk rrkglvpglv nlgntcfmns llqglsacpa
       61 firwleefts qysrdqkepp shqylsltll hllkalscqe vtddevldas clldvlrmyr
      121 wqissfeeqd ahelfhvits slederdrqp rvthlfdvhs leqqseitpk qitcrtrgsp
      181 hptsnhwksq hpfhgrltsn mvckhcehqs pvrfdtfdsl slsipaatwg hpltldhclh
      241 hfissesvrd vvcdnctkie akgtlngekv ehqrttfvkq lklgklpqcl cihlqrlsws
      301 shgtplkrhe hvqfneflmm diykyhllgh kpsqhnpkln knpgptlelq dgpgaptpgv
      361 cargadaagi fsteksslas ppsgslmtga qglynvlnqp gapktqifmn gacspsllpt
      421 lsapmpfplp vvpdysssty lfrlmavvvh hgdmhsghfv tyrrsppsar nplstsnqwl
      481 wvsddtvrka slqevlsssa yllfyervls rmqhqsqeck see
//
LOCUS       XP_047286374             643 aa            linear   PRI 20-MAR-2023
DEFINITION  ecto-NOX disulfide-thiol exchanger 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047286374
VERSION     XP_047286374.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430418.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..643
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..643
                     /product="ecto-NOX disulfide-thiol exchanger 1 isoform X1"
                     /calculated_mol_wt=73218
     Region          136..219
                     /region_name="RRM_ENOX"
                     /note="RNA recognition motif (RRM) found in the cell
                     surface Ecto-NOX disulfide-thiol exchanger (ECTO-NOX or
                     ENOX) proteins; cd12228"
                     /db_xref="CDD:409675"
     Region          235..>582
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..643
                     /gene="ENOX1"
                     /gene_synonym="bA64J21.1; cCNOX; CNOX; PIG38"
                     /coded_by="XM_047430418.1:32486..34417"
                     /db_xref="GeneID:55068"
                     /db_xref="HGNC:HGNC:25474"
                     /db_xref="MIM:610914"
ORIGIN      
        1 mvdaggveni tqlpqelpqm maaaadglgs iaidttqlnm svtdptawat amnnlgmvpv
       61 glpgqqlvsd sicvpgfdps lnmmtgitpi npmipglglv ppppptevav vkeiihcksc
      121 tlfpqnpnlp ppstrerppg cktvfvgglp enateeiiqe vfeqcgdita irkskknfch
      181 irfaeefmvd kaiylsgyrm rlgsstdkkd sgrlhvdfaq arddfyewec kqrmrareer
      241 hrrkleedrl rppsppaimh yseheaalla eklkddskfs eaitvllswi ergevnrrsa
      301 nqfysmvqsa nshvrrlmne katheqemee akenfknalt giltqfeqiv avfnastrqk
      361 awdhfskaqr knidiwrkhs eelrnaqseq lmgirreeem emsddencds ptkkmrvdes
      421 alaaqayalk eendslrwql dayrnevell kqekeqlfrt eenltkdqql qflqqtmqgm
      481 qqqlltiqee lnnkkseleq akeeqshtqa llkvlqeqlk gtkelvetng hshedsnein
      541 vltvalvnqd renniekrsq glksekeall igiistflhv hpfganieyl wsymqqldsk
      601 isaneiemll mrlprmfkqe ftgvgatlek rwklcafegi ktt
//
LOCUS       XP_047287679            1290 aa            linear   PRI 20-MAR-2023
DEFINITION  son of sevenless homolog 2 isoform X8 [Homo sapiens].
ACCESSION   XP_047287679
VERSION     XP_047287679.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431723.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1290
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1290
                     /product="son of sevenless homolog 2 isoform X8"
                     /calculated_mol_wt=147803
     Region          10..109
                     /region_name="Histone"
                     /note="Core histone H2A/H2B/H3/H4; pfam00125"
                     /db_xref="CDD:425478"
     Region          157..344
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(163,167,268,296..297,300..301,303..304,307..308,
                     311..312,315,340,344)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          395..501
                     /region_name="PH_SOS"
                     /note="Son of Sevenless (SOS) Pleckstrin homology (PH)
                     domain; cd01261"
                     /db_xref="CDD:269963"
     Region          553..697
                     /region_name="RasGEFN"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     GTPases; N-terminal motif; smart00229"
                     /db_xref="CDD:214571"
     Site            order(572,639,643..644,647,650..651,684..685,688,695)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:100121"
     Region          732..971
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases. Small GTP-binding proteins of the Ras
                     superfamily function as molecular switches in fundamental
                     events such as signal transduction, cytoskeleton dynamics
                     and intracellular trafficking; cd00155"
                     /db_xref="CDD:238087"
     Site            order(765..767,777..778,780..782,784..785,788..789,792,
                     825,828..829,831..833,835..838,840..841,861,867..869,872,
                     885..887,890..892,894..896,898..901,919,923,963,966..967)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     CDS             1..1290
                     /gene="SOS2"
                     /gene_synonym="NS9; SOS-2"
                     /coded_by="XM_047431723.1:204..4076"
                     /db_xref="GeneID:6655"
                     /db_xref="HGNC:HGNC:11188"
                     /db_xref="MIM:601247"
ORIGIN      
        1 maqprtvqdv eervqktfph pidkwaiada qsaiekrkrr nplllpvdki hpslkevlgy
       61 kvdyhvslyi vavleyisad ilklagnyvf nirhyeisqq dikvsmcadk plvttfysas
      121 mslfqiphvl mdmfdqddig lvslcedeps ssgelnyydl vrteiaeerq ylrelnmiik
      181 vfreaflsdr klfkpsdiek ifsnisdihe ltvkllglie dtvemtdess phplagscfe
      241 dlaeeqafdp yetlsqdils pefhehfnkl marpavalhf qsiadgfkea vryvlprlml
      301 vpvyhcwhyf ellkqlkacs eeqedrecln qaitalmnlq gsmdriykqy sprrrpgdpv
      361 cpfyshqlrs khlaikkmne iqknidgweg kdigqccnef imegpltrig akherhiflf
      421 dglmisckpn hgqtrlpgys saeyrlkekf vmrkiqicdk edtcehkhaf elvskdensi
      481 ifaaksaeek nnwmaalisl hyrstldrml dsvllkeene qplrlpspev yrfvvkdsee
      541 nivfednlqs rsgipiikgg tvvklierlt yhmyadpnfv rtflttyrsf ckpqellsll
      601 ierfeipepe ptdadklaie kgeqpisadl krfrkeyvqp vqlrilnvfr hwvehhfydf
      661 erdlellerl esfissvrgk amkkwvesia kiirrkkqaq angvshnitf esppppiewh
      721 iskpgqfetf dlmtlhpiei arqltllesd lyrkvqpsel vgsvwtkedk einspnllkm
      781 irhttnltlw fekciveaen feervavlsr iieilqvfqd lnnfngvlei vsavnsvsvy
      841 rldhtfealq erkrkildea velsqdhfkk ylvklksinp pcvpffgiyl tnilkteegn
      901 ndflkkkgkd linfskrrkv aeitgeiqqy qnqpyclrie pdmrrffenl npmgsaseke
      961 ftdylfnksl eieprnckqp prfprkstfs lkspgirpnt grhgstsgtl rghptplere
     1021 pckisfsria etelestvsa ptspntpstp pvsassdlsv fldvdlnssc gsnsifapvl
     1081 lphsksffss cgslhklsee plippplppr kkfdhdasns kgnmksdddp paipprqppp
     1141 pkvkprvpvp tgafdgplhs pppppprdpl pdtpppvplr ppehfincpf nlqppplghl
     1201 hrdsdwlrdi stcpnspstp pstpsprvpr rcyvlsssqn nlahppappv pprqnssphl
     1261 pklppktykr elshpplyrl pllenaetpq
//
LOCUS       XP_047288435            1342 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIF7 isoform X4 [Homo sapiens].
ACCESSION   XP_047288435
VERSION     XP_047288435.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047432479.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1342
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1342
                     /product="kinesin-like protein KIF7 isoform X4"
                     /calculated_mol_wt=150328
     Region          15..350
                     /region_name="KISc_KIF4"
                     /note="Kinesin motor domain, KIF4-like subfamily; cd01372"
                     /db_xref="CDD:276823"
     Site            order(23,94,97,99..102,252)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276823"
     Site            order(302,305,308)
                     /site_type="other"
                     /note="microtubule interaction site [polypeptide binding]"
                     /db_xref="CDD:276823"
     Region          <728..1057
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          <921..1196
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..1342
                     /gene="KIF7"
                     /gene_synonym="ACLS; AGBK; HLS2; JBTS12; UNQ340"
                     /coded_by="XM_047432479.1:94..4122"
                     /db_xref="GeneID:374654"
                     /db_xref="HGNC:HGNC:30497"
                     /db_xref="MIM:611254"
ORIGIN      
        1 mgleaqrlpg aeeapvrval rvrpllpkel lhghqsclqv epglgrvtlg rdrhfgfhvv
       61 laedagqeav yqacvqplle affegfnatv faygqtgsgk tytmgeasva slledeqgiv
      121 pramaeafkl idendlldcl vhvsylevyk eefrdllevg tasrdiqlre dergnvvlcg
      181 vkevdvegld evlsllemgn aarhtgathl nhlssrshtv ftvtleqrgr apsrlprpap
      241 gqllvskfhf vdlagservl ktgstgerlk esiqinssll algnvisalg dpqrrgship
      301 yrdskitril kdslggnakt vmiacvspss sdfdetlntl nyasraqnir nratvnwrpe
      361 aerppeetas gargpprhrs etriihrgrr apgpatasaa aamrlgaeca ryractdaay
      421 sllrelqaep glpgaaarkv rdwlcavege rsalssasgp dsgiesasve dqaaqgaggr
      481 kedegaqqll tlqnqvarle eenrdflaal edameqyklq sdrlreqqee mvelrlrlel
      541 vrpgwggprl lnglppgsfv prphtaplgg ahahvlgmvp paclpgdevg seqrgevtng
      601 reagaellte vnrlgsgssa aseeeeeeee pprrtlhlrr nrisncsqra garpgslper
      661 kgpelcleel daaipgsrav ggskarvqar qvppatasew rlaqaqqkir elainirmke
      721 eligelvrtg kaaqalnrqh sqrireleqe aeqvraelse gqrqlreleg kelqdagers
      781 rlqefrrrva aaqsqvqvlk ekkqaterlv slsaqsekrl qelernvqlm rqqqgqlqrr
      841 lreeteqkrr leaemskrqh rvkelelkhe qqqkilkikt eeiaafqrkr rsgsngsvvs
      901 leqqqkieeq kkwldqemek vlqqrralee lgeelhkrea ilakkealmq ektgleskrl
      961 rssqalnedi vrvssrlehl ekelseksgq lrqgsaqsqq qirgeidslr qekdsllkqr
     1021 leidgklrqg sllspeeert lfqldeaiea ldaaieykne aitcrqrvlr asasllsqce
     1081 mnlmaklsyl sssetrallc kyfdkvvtlr eeqhqqqiaf selemqleeq qrlvywleva
     1141 lerqrlemdr qltlqqkehe qnmqlllqqs rdhlgeglad srrqyeariq alekelgrym
     1201 winqelkqkl ggvnavghsr ggekrslcse grqapgnede lhlapellwl spltegaprt
     1261 reetrdlvha plpltwkrss lcgeeqgspe elrqreaaep lvgrvlpvge aglpwnfgpl
     1321 skprrelrra spgmidvrkn pl
//
LOCUS       XP_011520055            1425 aa            linear   PRI 20-MAR-2023
DEFINITION  uveal autoantigen with coiled-coil domains and ankyrin repeats
            isoform X2 [Homo sapiens].
ACCESSION   XP_011520055
VERSION     XP_011520055.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011521753.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Jun 6, 2016 this sequence version replaced XP_011520055.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1425
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..1425
                     /product="uveal autoantigen with coiled-coil domains and
                     ankyrin repeats isoform X2"
                     /calculated_mol_wt=163649
     Region          58..85
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          <68..>251
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Region          87..118
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          121..151
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          154..184
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(155,159..160,163..165,167..168,172,175,184,186,188,
                     192..193,196..198,200..201,205,208,217,219,221,225..226,
                     229..231,233..234,238,241,250)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          186..217
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          219..250
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          271..>612
                     /region_name="PLN02939"
                     /note="transferase, transferring glycosyl groups"
                     /db_xref="CDD:215507"
     Region          491..1337
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1425
                     /gene="UACA"
                     /gene_synonym="NUCLING"
                     /coded_by="XM_011521753.3:376..4653"
                     /db_xref="GeneID:55075"
                     /db_xref="HGNC:HGNC:15947"
                     /db_xref="MIM:612516"
ORIGIN      
        1 mlslksiiln vsciscvlgr fynsallmkl aqkgegnlec nwkisdhaad wnkyddrlmk
       61 aaergdvekv tsilakkgvn pgkldvegrs vfhvvtskgn leclnailih gvdittsdta
      121 grnalhlaak yghalclqkl lqyncpteha dlqgrtalhd aamadcpssi qllcdhgasv
      181 nakdvdgrtp lvlatqmsrp ticqllidrg advnsrdkqn rtalmlgcey gcrdavevli
      241 kngadislld alghdssyya rigdnldilt llktasentn kgrelwkkgp slqqrnlthm
      301 qdevnvkshq rehqniqdle ienedlkerl rkiqqeqril ldkvnglqlq lnereklksl
      361 laakekqhee slrtiealkn rfkyfesdhl gsgshfsnrk edmllkqgqm ymadsqctsp
      421 gipahmqsrs mlrplelslp sqtsysenei lkkeleamrt fcesakqdrl klqnelahkv
      481 aeckalalec ervkedsdeq ikqledalkd vqkrmyeseg kvkqmqthfl alkehltsea
      541 asgnhrltee lkdqlkdlkv kyegasaevg klrnqikqne miveefkrde gklieenkrl
      601 qkelsmceme rekkgrkvte megqakelsa klalsipaek fenmksslsn evnekakklv
      661 emereheksl seirqlkrel envkaklaqh vkpeeheqvk srleqksgel gkkiteltlk
      721 nqtlqkeiek vyldnkllke qahnltiemk nhyvplkvse dmkkshdaii ddlnrklldv
      781 tqkytekkle meklllends lskdvsrlet vfvppekhek eiialksniv elkkqlselk
      841 kkcgedqeki haltsentnl kkmmsnqyvp vktheevkmt lndtlaktnr elldvkkkfe
      901 dinqefvkik dkneilkrnl entqnqikae yislaeheak msslsqsmrk vqdsnaeila
      961 nyrkgqeeiv tlhaeikaqk keldtiqeci kvkyapivsf eecerkfkat ekelkdqlse
     1021 qtqkysvsee evkknkqend klkkeiftlq kdlrdktvli ekshemeral srktdelnkq
     1081 lkdlsqkyte vknvkeklve enakqtseil avqnllqkqh vpleqvealk kslngtienl
     1141 keelksmqrc yekeqqtvtk lhqllenqkn ssvplaehlq ikeafekevg iikaslreke
     1201 eesqnkmeev sklqsevqnt kqalkkletr evvdlskyka tksdletqis slneklanln
     1261 rkyeevceev lhakkkeisa kdekellhfs ieqeikdqke rcdkslttit elqrriqesa
     1321 kqieakdnki tellndverl kqalnglsql tytsgnptkr qsqlidtlqh qvksleqqla
     1381 dadrqhqevi aiyrthllsa aqghmdedvq eallqiiqmr qglvc
//
LOCUS       XP_047289812             942 aa            linear   PRI 20-MAR-2023
DEFINITION  protein CLEC16A isoform X15 [Homo sapiens].
ACCESSION   XP_047289812
VERSION     XP_047289812.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433856.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..942
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..942
                     /product="protein CLEC16A isoform X15"
                     /calculated_mol_wt=106568
     Region          51..198
                     /region_name="FPL"
                     /note="Uncharacterized conserved protein; pfam09758"
                     /db_xref="CDD:401635"
     Region          243..873
                     /region_name="CLEC16A_C"
                     /note="CLEC16A C-terminal; pfam19439"
                     /db_xref="CDD:437271"
     CDS             1..942
                     /gene="CLEC16A"
                     /gene_synonym="Gop-1; KIAA0350"
                     /coded_by="XM_047433856.1:155..2983"
                     /db_xref="GeneID:23274"
                     /db_xref="HGNC:HGNC:29013"
                     /db_xref="MIM:611303"
ORIGIN      
        1 mfgrsrswvg gghgktsrni hsldhlkyly hvltknttvt eqnrnllvet irsiteiliw
       61 gdqndssvfd ffleknmfvf flnilrqksg ryvcvqllqt lnilfenish etslyyllsn
      121 nyvnsiivhk fdfsdeeima yyisflktls lklnnhtvhf fynehtndfa lyteaikffn
      181 hpesmvriav rtitlnvykv dnqamlhyir dktavpyfsn lvwfigshvi elddcvqtde
      241 ehrnrgklsd lvaehldhlh ylndiliinc eflndvltdh llnrlflply vyslenqdkg
      301 gerpkislpv slyllsqvfl iihhaplvns laevilngdl semyakteqd iqrssakpsi
      361 rcfikptetl erslemnkhk gkrrvqkrpn yknvgeeede ekgptedaqe daekakeiem
      421 vimersklse laastsvqeq nttdeeksaa atcsestqws rpfldmvyha ldspdddyha
      481 lfvlcllyam shnkgmdpek leriqlpvpn aaekttynhp laerlirimn naaqpdgkir
      541 latlelscll lkqqvlmsag cimkdvhlac legareesvh lvrhfykged ifldmfedey
      601 rsmtmkpmnv eylmmdasil lpptgtpltg idfvkrlpcg dvektrrair vffmlrslsl
      661 qlrgepetql pltreedlik tddvldlnns dliactvitk dggmvqrfla vdiyqmslve
      721 pdvsrlgwgv vkfagllqdm qvtgveddsr alnitihkpa ssphskpfpi lqatfifsdh
      781 irciiakqrl akgriqarrm kmqriaalld lpiqpttevl gfglgsstst qhlpfrfydq
      841 grrgssdptv qrsvfasvdk vpgfavaqci nqhsspslss qsppsasgsp sgsgstshcd
      901 sggtsssstp staqspavrs grkgrrrvfs lseadshggh wv
//
LOCUS       XP_011521707             392 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-dependent kinase 10 isoform X1 [Homo sapiens].
ACCESSION   XP_011521707
VERSION     XP_011521707.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011523405.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..392
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..392
                     /product="cyclin-dependent kinase 10 isoform X1"
                     /calculated_mol_wt=44170
     Region          31..371
                     /region_name="STKc_CDK10"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Cyclin-Dependent protein Kinase 10; cd07845"
                     /db_xref="CDD:173742"
     Site            order(45..48,53,66,68,85,99,117..120,123,125..126,163,165,
                     167..168,170,181,184,196,198..201,203,273..274)
                     /site_type="active"
                     /db_xref="CDD:173742"
     Site            order(45..48,53,66,68,99,117..120,123,126,167..168,170,
                     181)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:173742"
     Site            order(77..79,81,84..85,87..88,91..92,104,106,113,152,
                     155..158,186,188..191,195..196,341,345..347)
                     /site_type="other"
                     /note="CDK/cyclin interface [polypeptide binding]"
                     /db_xref="CDD:173742"
     Site            order(85,125,163,165,184,196,198..201,203,273..274)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:173742"
     Site            order(180..191,193..203)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:173742"
     CDS             1..392
                     /gene="CDK10"
                     /gene_synonym="ALSAS; PISSLRE"
                     /coded_by="XM_011523405.4:23..1201"
                     /db_xref="GeneID:8558"
                     /db_xref="HGNC:HGNC:1770"
                     /db_xref="MIM:603464"
ORIGIN      
        1 maepdleceq irlkcirkeg fftvppehrl grcrsvkefe klnrigegty givyrardtq
       61 tdeivalkkv rmdkekdgip isslreitll lrlrhpnive lkevvvgnhl esiflvmgyc
      121 eqdlasllen mptpfseaqv kcivlqvlrg lqylhrnfii hrdlkvsnll mtdkgcvkta
      181 dfglaraygv pvkpmtpkvv tlwyrapell lgtttqttsi dmwvskglaa vrssvpragg
      241 vsrrlaavrs tvlcravgci laellahrpl lpgtseihqi dlivqllgtp seniwpgfsk
      301 lplvgqyslr kqpynnlkhk fpwlseaglr llhflfmydp kkratagdcl essyfkekpl
      361 pcepelmptf phhrnkraap atsegqskrc kp
//
LOCUS       XP_047292378             225 aa            linear   PRI 20-MAR-2023
DEFINITION  5'(3')-deoxyribonucleotidase, mitochondrial isoform X7 [Homo
            sapiens].
ACCESSION   XP_047292378
VERSION     XP_047292378.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047436422.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..225
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..225
                     /product="5'(3')-deoxyribonucleotidase, mitochondrial
                     isoform X7"
                     /calculated_mol_wt=25236
     Region          38..213
                     /region_name="HAD_5-3dNT"
                     /note="5'(3')-deoxyribonucleotidase; cd02587"
                     /db_xref="CDD:319786"
     Site            order(41..45,49..50,75..78,96,102,130..133,143,196,
                     206..207,210..211)
                     /site_type="active"
                     /db_xref="CDD:319786"
     CDS             1..225
                     /gene="NT5M"
                     /gene_synonym="dNT-2; dNT2; mdN"
                     /coded_by="XM_047436422.1:179..856"
                     /db_xref="GeneID:56953"
                     /db_xref="HGNC:HGNC:15769"
                     /db_xref="MIM:605292"
ORIGIN      
        1 mirlggwcar rlcsaavpag rrgaagglgl aggralrvlv dmdgvladfe ggflrkfrar
       61 fpdqpfiale drrgfwvseq ygrlrpglse kaisiweskn fffeleplpg aveavkemas
      121 lqntdvfict spikmfkycp yekrwglaml pklvlnpwtq aillpwppkv lrlqyawvek
      181 yfgpdfleqi vltrdktvvs adlliddrpd itatkpifsp ksnvd
//
LOCUS       XP_011523421              77 aa            linear   PRI 20-MAR-2023
DEFINITION  small integral membrane protein 5 isoform X3 [Homo sapiens].
ACCESSION   XP_011523421
VERSION     XP_011523421.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011525119.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000017.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..77
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
     Protein         1..77
                     /product="small integral membrane protein 5 isoform X3"
                     /calculated_mol_wt=8409
     Region          5..75
                     /region_name="CASIMO1_SMIM5"
                     /note="small integral membrane protein 5 (SMIM5) of
                     CASIMO1; cd20254"
                     /db_xref="CDD:380776"
     CDS             1..77
                     /gene="SMIM5"
                     /gene_synonym="C17orf109; PP12104"
                     /coded_by="XM_011525119.3:101..334"
                     /db_xref="GeneID:643008"
                     /db_xref="HGNC:HGNC:40030"
ORIGIN      
        1 maatdfvqem ravgerlllk lqrlpqaepv eivafsviil ftatvlllll iacscccthc
       61 ccperrgrkv qvqptpp
//
LOCUS       XP_047293830             230 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 68 isoform X4 [Homo sapiens].
ACCESSION   XP_047293830
VERSION     XP_047293830.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047437874.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000018.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..230
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
     Protein         1..230
                     /product="coiled-coil domain-containing protein 68 isoform
                     X4"
                     /calculated_mol_wt=26618
     Region          <89..>210
                     /region_name="DUF5401"
                     /note="Family of unknown function (DUF5401); pfam17380"
                     /db_xref="CDD:375164"
     CDS             1..230
                     /gene="CCDC68"
                     /gene_synonym="SE57-1"
                     /coded_by="XM_047437874.1:378..1070"
                     /db_xref="GeneID:80323"
                     /db_xref="HGNC:HGNC:24350"
                     /db_xref="MIM:616909"
ORIGIN      
        1 mttvtvttei pprdkmedns alyestsahi ieeteyvkki rttlqkirtq mfkdeirhds
       61 tnhkldakhc gnlqqgsdse mdpsccsldl lmkkikgkdl qllemnkene vlkiklqasr
      121 eagaaalrnv aqrlfenyqt qseevrkkqe dskqllqvnk lekeqklkqh venlnqvaek
      181 leekhsqite lenlvqrmek ekrtllerkl slenkllqlk ssatygkrnl
//
LOCUS       XP_047295166             610 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 667 isoform X1 [Homo sapiens].
ACCESSION   XP_047295166
VERSION     XP_047295166.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439210.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..610
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..610
                     /product="zinc finger protein 667 isoform X1"
                     /calculated_mol_wt=70030
     Region          15..74
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          141..601
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          146..166
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(151,153,155,157..158,161..162,165,179,181,185..186,
                     189..190,193,207,209,211,213..214,217..218,221)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          174..194
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          202..222
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          255..275
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          284..303
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          332..352
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(337,339,341,343..344,347..348,351,365,367,371..372,
                     375..376,379,393,395,397,399..400,403..404,407)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          360..380
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          388..408
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          417..437
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          445..465
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          473..493
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          501..521
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(506,508,510,512..513,516..517,520,534,536,540..541,
                     544..545,548,562,564,566,568..569,572..573,576)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          529..549
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          557..577
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          585..605
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..610
                     /gene="ZNF667"
                     /gene_synonym="MIPU1"
                     /coded_by="XM_047439210.1:2908..4740"
                     /db_xref="GeneID:63934"
                     /db_xref="HGNC:HGNC:28854"
                     /db_xref="MIM:611024"
ORIGIN      
        1 mpsargksks kapitfgdla iyfsqeewew lspiqkdlye dvmlenyrnl vslglsfrrp
       61 nvitllekgk apwmvepvrr rrapdsgskc etkklppnqc nksgqsicqk lvsaqqkapt
      121 rksgcnknsv lvkpkkghsg kkplkcndcg ktfsrsfslk lhqnihtgek pfecsncrka
      181 frqissillh qrihsgkksh ecnkcgesfn qrttlilhmr ihdgkeildc gkalsqcqsf
      241 nihqkihvvg nvcqcrkcgk afnqmsslll hkkihngkkt hkynkcgrgf kkksvfvvhk
      301 rihagekipe nakalsqslq qrshhlenpf kcrkcgklfn risplmlhqr ihtsekpykc
      361 dkcdkffrrl stlilhlrih ngeklyrcnk cekvcnrhss liqhqkvhtk kkklfeckec
      421 gkmfsgtanl kihqnihsee kpfkcnkcsk vfgrqsflie hqrihtgekp yqceecgkaf
      481 shrisltrhk rihtedrpye cdqcgkafsq sahlaqheri htgekpytck tcgkafsqrt
      541 slilhersht gekpyecnec gkafssgsdl irhqrshsse kpyecskcgk aysrssslir
      601 hqnthseeka
//
LOCUS       XP_011525594             819 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 229 isoform X2 [Homo sapiens].
ACCESSION   XP_011525594
VERSION     XP_011525594.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011527292.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..819
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..819
                     /product="zinc finger protein 229 isoform X2"
                     /calculated_mol_wt=92970
     Region          33..74
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          345..365
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          369..781
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          373..393
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(378,380,382,384..385,388..389,392,406,408,412..413,
                     416..417,420,434,436,438,440..441,444..445,448)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          401..421
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          429..449
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          457..477
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          485..505
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          513..533
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          541..560
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          568..588
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          596..616
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(601,603,605,607..608,611..612,615,629,631,635..636,
                     639..640,643,657,659,661,663..664,667..668,671)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          624..644
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          652..672
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          680..700
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          708..728
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          736..756
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(741,743,745,747..748,751..752,755,769,771,775..776,
                     779..780,783,797,799,801,803..804,807..808,811)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          764..784
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          792..812
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..819
                     /gene="ZNF229"
                     /coded_by="XM_011527292.3:430..2889"
                     /db_xref="GeneID:7772"
                     /db_xref="HGNC:HGNC:13022"
ORIGIN      
        1 metltsrhek ralhsqasai sqdreekims qeplsfkdva vvfteeelel ldstqrqlyq
       61 dvmqenfrnl lsvgdkngkd teyiqdeelr ffshkelssc kiweevagel pgsqdcrvnl
      121 qgkdfqfsed aaphqgwega stpcfpienf ldslqgdgli glenqqfpaw rairpipiqg
      181 swakafvnql gdvqercknl dtedtvykcn wdddsfcwis chvdhrfpei dkpcgcnkcr
      241 kdciknsvlh rinpgenglk sneyrngfrd dadlpphprv plkeklcqyd efseglrhsa
      301 hlnrhqrvpt geksvksler grgvrqnthi rnhprapvgd mpyrcdvcgk gfryksvlli
      361 hqgvhtgrrp ykceecgkaf grssnllvhq rvhtgekpyk csecgkgfsy ssvlqvhqrl
      421 htgekpytcs ecgkgfcaks alhkhqhihp gekpyscgec gkgfscsshl sshqkthtge
      481 rpyqcdkcgk gfshnsylqa hqrvhmgqhl ykcnvcgksf syssgllmhq rlhtgekpyk
      541 cecgksfgrs sdlhihqrvh tgekpykcse cgkgfrrnsd lhshqrvhtg erpyvcdvcg
      601 kgfiyssdll ihqrvhtgek pykcaecgkg fsyssgllih qrvhtgekpy rcqecgkgfr
      661 ctsslhkhqr vhtgkkpytc dqcgkgfsyg snlrthqrlh tgekpytcce cgkgfrygsg
      721 llshkrvhtg ekpyrchvcg kgysqsshlq ghqrvhtgek pykceecgkg fgrnsclhvh
      781 qrvhtgekpy tcgvcgkgfs ytsglrnhqr vhlgenpyk
//
LOCUS       XP_047295447             385 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein neuro-d4 isoform X5 [Homo sapiens].
ACCESSION   XP_047295447
VERSION     XP_047295447.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439491.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..385
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..385
                     /product="zinc finger protein neuro-d4 isoform X5"
                     /calculated_mol_wt=43741
     Region          12..78
                     /region_name="Requiem_N"
                     /note="N-terminal domain of DPF2/REQ; pfam14051"
                     /db_xref="CDD:433676"
     Region          <183..217
                     /region_name="SFP1"
                     /note="Putative transcriptional repressor regulating G2/M
                     transition [Transcription / Cell division and chromosome
                     partitioning]; COG5189"
                     /db_xref="CDD:227516"
     Region          267..324
                     /region_name="PHD1_DPF1"
                     /note="PHD finger 1 found in D4, zinc and double PHD
                     fingers family 1 (DPF1); cd15690"
                     /db_xref="CDD:277160"
     Site            order(271,273..274,276,291,296..298,303..305,318,320..322)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:277160"
     Site            order(305..306,308..309,312..313,316,318..319,321,323)
                     /site_type="other"
                     /note="PHD2 interface [polypeptide binding]"
                     /db_xref="CDD:277160"
     Region          325..370
                     /region_name="PHD2_d4"
                     /note="PHD finger 2 found in d4 gene family proteins;
                     cd15530"
                     /db_xref="CDD:277005"
     Site            order(325,340..346)
                     /site_type="other"
                     /note="PHD1 interface [polypeptide binding]"
                     /db_xref="CDD:277005"
     Site            order(332,335..342,350,360..365)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:277005"
     CDS             1..385
                     /gene="DPF1"
                     /gene_synonym="BAF45b; NEUD4; neuro-d4; SMARCG1"
                     /coded_by="XM_047439491.1:81..1238"
                     /db_xref="GeneID:8193"
                     /db_xref="HGNC:HGNC:20225"
                     /db_xref="MIM:601670"
ORIGIN      
        1 matvipgpls lgedfyreai ehcrsynarl caerslrlpf ldsqtgvaqn ncyiwmekth
       61 rgpglapgqi ytyparcwrk krrlniledp rlrpceykid ceaplkkegg lpegpvleal
      121 lcaetgekki elkeeetimd cqqllefphd levedleddi prrknrakgk aygigglrkr
      181 qdtasledrd kpyvcdicgk ryknrpglsy hyththlaee egeenaerha lpfhrknnhk
      241 qfykelawvp eaqrkhtakk apdgtvipng ycdfclggsk ktgcpedlis cadcgrsghp
      301 sclqftvnmt aavrtyrwqc ieckscslcg tsenddqllf cddcdrgyhm yclsppmaep
      361 pegswschlc lrhlkekasa yitlt
//
LOCUS       XP_011525675            1293 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 541 isoform X5 [Homo sapiens].
ACCESSION   XP_011525675
VERSION     XP_011525675.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011527373.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1293
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..1293
                     /product="zinc finger protein 541 isoform X5"
                     /calculated_mol_wt=139851
     Region          142..162
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(147,149,151,153..154,157..158,161,175,177,181..182,
                     190..191,194,210,212,214,216..217,220..221,224)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          150..>324
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          170..195
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          203..225
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1002..1057
                     /region_name="ELM2"
                     /note="ELM2 domain; pfam01448"
                     /db_xref="CDD:426267"
     Region          1112..1155
                     /region_name="SANT"
                     /note="'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains.
                     Tandem copies of the domain bind telomeric DNA tandem
                     repeatsas part of the capping complex. Binding is sequence
                     dependent for repeats which contain the G/C rich motif
                     [C2-3 A (CA)1-6]. The domain is...; cl21498"
                     /db_xref="CDD:451276"
     Site            order(1112,1141..1142,1144..1145,1147..1149,1151..1153)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:212559"
     CDS             1..1293
                     /gene="ZNF541"
                     /coded_by="XM_011527373.4:1229..5110"
                     /db_xref="GeneID:84215"
                     /db_xref="HGNC:HGNC:25294"
                     /db_xref="MIM:619942"
ORIGIN      
        1 mdqyslgdeg alpsemhlps fsesqglncs dtlnrdlgpn trgflyagls gldpdpslpt
       61 pdmssevled nldtlslysg kdsdsvklle eyadsesqas lqdlglgvlk akeadeggra
      121 tsgsarkgkr qhsspqnpll dcslcgkvfs sasslskhyl thsqerkhvc kicskafkrq
      181 dhlyvgvwtg hmlthqktkp fvcieqgcsk sycdyrslrr hyevhhglci lkeappeeea
      241 cgdsphahes agqpppsslr slvppearsp gsllphrdll rrivssivhq ktpspgpapa
      301 gasdsegrnt acpcpassgs ssctpagpha apaaldtelp eepclpqkep atdvftapns
      361 raaengapdp pepepdtall qarstaecwp eggsvpaclp lfrgqtvpas sqpsshsfqw
      421 lrnlpgcpks kgnnvfvvhk psavpsregs esgpgpssgs pseesppgpg ggledalpfp
      481 aallrvpaea psdprsasge ddpcapkkvk vdcdsflcqn pgepglqeaq kagglpadas
      541 plfrqlflks qeplvsheqm qvfqmitksq rifshaqvaa vssqlpapeg kpaalrplqg
      601 pwpqqpppla pavdslhagp gnpeaegspa rrrkttpgvp reaspgstrr dakgglkvaa
      661 vptplaapsl dpsrnpdiss lakqlrsskg tldledifps tgqrqtqlgg eeppgaslpg
      721 kqapaengaa sritkgekgp acsrgggyrl lgnpraprfs gfrkekakmd mccaaspsqv
      781 amasfssagp padpsksklt ifsriqggni yrlphpvkee nvagrgnqqn gsptdwtkpr
      841 stfvckncsq mfytekglss hmcfhsdqwp sprgkqepqg qekdgeerds kessqqrkrk
      901 krpppstage pgpagchqsr lrspmflvdc llkglfqcsp ytpppmlspi regsgvyfnt
      961 lcststqasp dqlissmldq vdgsfgicvv kddtkisiep hinigsrfqa eipelqersl
     1021 agtdehvasl vwkpwgdmmi ssetqdrvte lcnvacssvm pgggtnlela lhclheaqgn
     1081 vqvaletlll rgphkprthl ladyrytgsd vwtpiekrlf kkafyahkkd fylihkmiqt
     1141 ktvaqcveyy yiwkkmikfd cgrapglekr vkrepeever teekvpcspr erpshhptpk
     1201 lktksyrres ilssspnags krtpellgsa esqgifpcre cervfdkiks rnahmkrhrl
     1261 qdhvepiirv kwpvkpfqlk eeelgadigp lqw
//
LOCUS       XP_011526678             694 aa            linear   PRI 20-MAR-2023
DEFINITION  hepatoma-derived growth factor-related protein 2 isoform X2 [Homo
            sapiens].
ACCESSION   XP_011526678
VERSION     XP_011526678.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011528376.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000019.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..694
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
     Protein         1..694
                     /product="hepatoma-derived growth factor-related protein 2
                     isoform X2"
                     /calculated_mol_wt=76514
     Region          <49..112
                     /region_name="PWWP"
                     /note="PWWP (Pro-Trp-Trp-Pro) domain; cl02554"
                     /db_xref="CDD:445826"
     Region          <122..650
                     /region_name="PTZ00121"
                     /note="MAEBL; Provisional"
                     /db_xref="CDD:173412"
     Region          495..581
                     /region_name="LEDGF"
                     /note="Lens epithelium-derived growth factor (LEDGF);
                     pfam11467"
                     /db_xref="CDD:431899"
     CDS             1..694
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /coded_by="XM_011528376.4:392..2476"
                     /db_xref="GeneID:84717"
                     /db_xref="HGNC:HGNC:14680"
                     /db_xref="MIM:617884"
ORIGIN      
        1 mpgwssggln lgcfwrerda gpggpwpspg ardsdkvalr rpkregswid diadgavkpp
       61 pnkypifffg thetaflgpk dlfpydkckd kygkpnkrkg fneglweiqn nphasysapp
      121 pvsssdseap eanpadgsda deddedrgvm avtavtataa sdrmesdsds dkssdnsglk
      181 rktpalkmsv skrarkassd ldqasvspse eensessses ektsdqdftp ekkaavrapr
      241 rgplggrkkk apsasdsdsk adsdgakpep vamarsasss sssssssdsd vsvkkpprgr
      301 kpaekplpkp rgrkpkperp psssssdsds devdrisewk rrdearrrel earrrreqee
      361 elrrlreqek eekerrrera drgeaergsg gssgdelred depvkkrgrk grgrgppsss
      421 dsepeaeler eakksakkpq sssteparkp gqkekrvrpe ekqqakpvkv ertrkrsegf
      481 smdrkvekkk epsveeklqk lhseikfalk vdspdvkrcl naleelgtlq vtsqilqknt
      541 dvvatlkkir rykankdvme kaaevytrlk srvlgpkiea vqkvnkagme kekaeeklag
      601 eelageeapq ekaedkpstd lsapvngeat sqkgesaedk eheegrdsee gprcgssedl
      661 hdsvregpdl drpgsdrqer erargdseal dees
//
LOCUS       XP_005246546            2242 aa            linear   PRI 20-MAR-2023
DEFINITION  bromodomain adjacent to zinc finger domain protein 2B isoform X3
            [Homo sapiens].
ACCESSION   XP_005246546
VERSION     XP_005246546.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005246489.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Mar 12, 2015 this sequence version replaced XP_005246546.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2242
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..2242
                     /product="bromodomain adjacent to zinc finger domain
                     protein 2B isoform X3"
                     /calculated_mol_wt=248236
     Region          744..816
                     /region_name="HAT_MBD"
                     /note="Methyl-CpG binding domains (MBD) present in
                     putative chromatin remodelling factor such as BAZ2A; BAZ2A
                     contains a MBD, DDT, PHD-type zinc finger and Bromo domain
                     suggesting that BAZ2A might be associated with histone
                     acetyltransferase (HAT) activity. The...; cd01397"
                     /db_xref="CDD:238691"
     Site            order(756,758,760,767,769,778,781,785)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238691"
     Region          897..>1072
                     /region_name="TPH"
                     /note="Trichohyalin-plectin-homology domain; pfam13868"
                     /db_xref="CDD:433539"
     Region          1100..1162
                     /region_name="DDT"
                     /note="domain in different transcription and chromosome
                     remodeling factors; smart00571"
                     /db_xref="CDD:214726"
     Region          1383..>1415
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          <1723..1762
                     /region_name="WSD"
                     /note="Williams-Beuren syndrome DDT (WSD), D-TOX E motif;
                     pfam15613"
                     /db_xref="CDD:434813"
     Region          1978..2026
                     /region_name="PHD_BAZ2B"
                     /note="PHD finger found in bromodomain adjacent to zinc
                     finger domain protein 2B (BAZ2B); cd15630"
                     /db_xref="CDD:277100"
     Site            order(1986,1992..1996,2014..2017)
                     /site_type="other"
                     /note="H3 histone binding site [polypeptide binding]"
                     /db_xref="CDD:277100"
     Region          2111..2207
                     /region_name="Bromo_BAZ2A_B_like"
                     /note="Bromodomain, BAZ2A/BAZ2B_like subfamily. Bromo
                     adjacent to zinc finger 2A (BAZ2A) and 2B (BAZ2B) were
                     identified as a novel human bromodomain gene by cDNA
                     library screening. BAZ2A is also known as Tip5
                     (Transcription termination factor I-interacting...;
                     cd05503"
                     /db_xref="CDD:99935"
     Site            order(2135,2140,2143,2182,2186,2192)
                     /site_type="active"
                     /note="acetyllysine binding site [active]"
                     /db_xref="CDD:99935"
     CDS             1..2242
                     /gene="BAZ2B"
                     /gene_synonym="WALp4"
                     /coded_by="XM_005246489.5:129..6857"
                     /db_xref="GeneID:29994"
                     /db_xref="HGNC:HGNC:963"
                     /db_xref="MIM:605683"
ORIGIN      
        1 mesgerlpss aassttptss stpsvasvvs kgglstgvas lsstinpcgh lfrtagdqpf
       61 nlstvssafp mvshpvfglh sassghsefg glgtlgtpta laahpqlasf pgaewwrttd
      121 ahtrtgatff ppllgipplf appaqnhdss sfhsrtsgks nrngpekgvn gsingsntss
      181 vigintsvls ttasssmgqt kstssgggnr kcnqeqsknq pldarvdkik dkkprkkame
      241 sssnsdsdsg tssdtssegi sssdsddlee deeeedqsie esedddsdse seaqhksnnq
      301 vllhgisdpk adgqkateka qekrihqplp lasesqthsf qsqqkqpqvl sqqlpfifqs
      361 sqakeesvnk htsviqstgl vsnvkplslv nqakketymk livpspdvlk agnkntsees
      421 slltselrsk reqykqafps qlkkqessks lkkviaalsn pkatssspah pkqtlennhp
      481 npfltnallg nhqpngviqs viqeaplalt tktkmqskin eniaaasstp fsspvnlsts
      541 grrtpgnqtp vmpsaspilh sqgkekavsn nvnpvktqhh shpakslveq frgtdsdips
      601 skdsedsned eeeddeeede eddeddesdd sqsesdsnse sdtegseeed dddkdqdesd
      661 sdtegektsm klnkttssvk spsmsltghs tprnlhiaka pgsapaalcs esqspaflgt
      721 ssstltssph sgtskrrrvt derelriple ygwqretrir nfggrlqgev ayyapcgkkl
      781 rqypevikyl srngimdisr dnfsfsakir vgdfyeardg pqgmqwcllk eedviprira
      841 megrrgrppn pdrqrarees rmrrrkgrpp nvgnaefldn adakllrklq aqeiarqaaq
      901 ikllrklqkq eqarvakeak kqqaimaaee krkqkeqiki mkqqekikri qqirmekelr
      961 aqqileakkk kkeeaanakl leaekrikek emrrqqavll khqelerhrl dmvwererrr
     1021 qhmmlmkame arkkaeeker lkqekrdekr lnkerkleqr rlelemakel kkpnedmcla
     1081 dqkplpelpr ipglvlsgst fsdclmvvqf lrnfgkvlgf dvnidvpnls vlqegllnig
     1141 dsmgevqdll vrllsaavcd pglitgykak talgehllnv gvnrdnvsei lqifmeahcg
     1201 qtelteslkt kafqahtpaq kasvlaflin elacsksvvs eidknidyms nlrrdkwvve
     1261 gklrklriih akktgkrdts ggidlgeeqh plgtptpgrk rrrkggdsdy dddddddsdd
     1321 qgdeddedee dkedkkgkkt dicededegd qaasveelek qieklskqqs qyrrklfdas
     1381 hslrsvmfgq dryrrrywil pqcggifveg mesgegleei akereklkka esvqikeemf
     1441 etsgdslncs ntdhceqked lkekdntnlf lqkpgsfskl skllevakmp pesevmtpkp
     1501 nagangctls yqnsgkhslg svqstatqsn vekadsnnlf ntgssgpgkf ysplpndqll
     1561 ktlteknrqw fsllprtpcd dtslthadms taslvtpqsq ppskspsptp aplgssaqnp
     1621 vglnpfalsp lqvkggvsmm glqfcgwptg vvtsnipfts svpslgsglg lsegngnsfl
     1681 tsnvasskse spvpqnekat saqpaaveva kpvdfpspkp ipeemqfgww riidpedlka
     1741 llkvlhlrgi rekalqkqiq khldyitqac lknkdvaiie lneneenqvt rdivenwsve
     1801 eqamemdlsv lqqvedlerr vasaslqvkg wmcpepaser edlvyfehks ftklckehdg
     1861 eftgedessa halerksdnp ldiavtrlad lernierryl ksplsttiqi kldnvgtvtv
     1921 papapsvsgd gdgieediap glrvwrrals earsaaqval ciqqlqksia weksimkvyc
     1981 qicrkgdnee llllcdgcdk gchtychrpk ittipdgdwf cpaciakasg qtlkikklhv
     2041 kgkktneskk gkkvtltgdt ededsastss slkrgnkdlk krkmeentsi nlskqesfts
     2101 vkkpkrddsk dlalcsmilt emethedawp fllpvnlklv pgykkvikkp mdfstirekl
     2161 ssgqypnlet faldvrlvfd ncetfnedds digraghnmr kyfekkwtdt fkplcyedal
     2221 aaqpygaans yhqltspvpe as
//
LOCUS       XP_047301333             717 aa            linear   PRI 20-MAR-2023
DEFINITION  cytosolic carboxypeptidase-like protein 5 isoform X4 [Homo
            sapiens].
ACCESSION   XP_047301333
VERSION     XP_047301333.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445377.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..717
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..717
                     /product="cytosolic carboxypeptidase-like protein 5
                     isoform X4"
                     /calculated_mol_wt=79885
     Region          10..155
                     /region_name="Pepdidase_M14_N"
                     /note="Cytosolic carboxypeptidase N-terminal domain;
                     pfam18027"
                     /db_xref="CDD:407865"
     Region          183..574
                     /region_name="M14_AGBL5_like"
                     /note="Peptidase M14-like domain of ATP/GTP binding
                     protein (AGBL)-5 and related proteins; cd06236"
                     /db_xref="CDD:349455"
     Site            order(252,255,303,312..313,434..435,444,516)
                     /site_type="active"
                     /db_xref="CDD:349455"
     CDS             1..717
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /coded_by="XM_047445377.1:269..2422"
                     /db_xref="GeneID:60509"
                     /db_xref="HGNC:HGNC:26147"
                     /db_xref="MIM:615900"
ORIGIN      
        1 melrcggllf ssrfdsgnla hvekveslss dgegvgggas altsgiassp dyefnvwtrp
       61 dcaetefeng nrswfyfsvr ggmpgkliki nimnmnkqsk lysqgmapfv rtlptrprwe
      121 rirdrptfem tetqfvlsfv hrfvegrgat tffafcypfs ysdcqellnq ldqrfpenhp
      181 thsspldtiy yhrellcysl dglrvdllti tschglredr eprleqlfpd tstprpfrfa
      241 gkrifflssr vhpgetpssf vfngfldfil rpddpraqtl rrlfvfklip mlnpdgvvrg
      301 hyrtdsrgvn lnrqylkpda vlhpaiygak avllyhhvhs rlnsqssseh qpssclppda
      361 pvsdlekann lqneaqcghs adrhnaeawk qtepaeqkln svwimpqqsa gleesapdti
      421 ppkesgvayy vdlhghaskr gcfmygnsfs destqvenml ypklislnsa hfdfqgcnfs
      481 eknmyardrr dgqskegsgr vaiykasgii hsytlecnyn tgrsvnsipa achdngrasp
      541 ppppafpsry tvelfeqvgr amaiaaldma ecnpwprivl sehssltnlr awmlkhvrns
      601 rglsstlnvg vnkkrglrtp pkshnglpvs csentlsrar sfstgtsagg ssssqqnspq
      661 mknspsfpfh gsrpaglpgl gsstqkvthr vlgpvrgkpv weplqhvfgc lghcwgk
//
LOCUS       XP_011510054             386 aa            linear   PRI 20-MAR-2023
DEFINITION  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X16 [Homo
            sapiens].
ACCESSION   XP_011510054
VERSION     XP_011510054.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011511752.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..386
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..386
                     /product="D-2-hydroxyglutarate dehydrogenase,
                     mitochondrial isoform X16"
                     /calculated_mol_wt=41139
     Region          69..>286
                     /region_name="GlcD"
                     /note="FAD/FMN-containing dehydrogenase [Energy production
                     and conversion]; COG0277"
                     /db_xref="CDD:223354"
     CDS             1..386
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /coded_by="XM_011511752.3:159..1319"
                     /db_xref="GeneID:728294"
                     /db_xref="HGNC:HGNC:28358"
                     /db_xref="MIM:609186"
ORIGIN      
        1 mlprrplawp awllrgapga agswgrpvgp larrgccsap gtpevpltre rypvrrlpfs
       61 tvskqdlaaf erivpggvvt dpealqapnv dwlrtlrgcs kvllrprtse evshilrhch
      121 ernlavnpqg gntgmvggsv pvfdeiilst armnrvlsfh svsgilvcqa gcvleelsry
      181 veerdfimpl dlgakgschi ggnvatnagg lrflrygslh gtvlglevvl adgtvldclt
      241 slrkdntgyd lkqlfigseg tlgiittvsi lcppkpravn vaflgflcsa liplqlqspv
      301 crppvvlgar gqpgcrillf alqvsdrshs plratptskp ggtgpvsaps lcacetfsle
      361 nsslistclc iaslsrperi pkirpl
//
LOCUS       XP_047301807             495 aa            linear   PRI 20-MAR-2023
DEFINITION  CAP-Gly domain-containing linker protein 4 isoform X5 [Homo
            sapiens].
ACCESSION   XP_047301807
VERSION     XP_047301807.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445851.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..495
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..495
                     /product="CAP-Gly domain-containing linker protein 4
                     isoform X5"
                     /calculated_mol_wt=53628
     Region          34..>225
                     /region_name="ANKYR"
                     /note="Ankyrin repeat [Signal transduction mechanisms];
                     COG0666"
                     /db_xref="CDD:223738"
     Region          109..146
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          153..184
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          186..217
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          285..349
                     /region_name="CAP_GLY"
                     /note="CAP-Gly domain; pfam01302"
                     /db_xref="CDD:426191"
     CDS             1..495
                     /gene="CLIP4"
                     /gene_synonym="RSNL2"
                     /coded_by="XM_047445851.1:267..1754"
                     /db_xref="GeneID:79745"
                     /db_xref="HGNC:HGNC:26108"
ORIGIN      
        1 mtiedlpdfp legnplfgry pfifsasdtp vifsisaapm psdcefsffd pndascqeil
       61 fdpktsvsel failrqwvpq vqqnidiign eilkrgcnvn drdgltdmtl lhytcksgah
      121 gigdvetavk fatqlidlga dislrsrwtn mnalhyaayf dvpelirvil ktskpkdvda
      181 tcsdfnfgta lhiaaynlca gavkclleqg anpafrndkg qipadvvpdp vdmplemada
      241 aatakeikqm lldavplscn iskamlpnyd hvtgkamlts lglklgdrvv iagqkvgtlr
      301 fcgttefasg qwagieldep egknngsvgk vqyfkcapky gifaplskis kakgrrknit
      361 htpstkaavp lirsqkidva hvtskvntgl mtskkdsase stlslppgee lktvtekdva
      421 llgsvsscss tsslehrqsy pkkqnaissn kktmskspsl ssrasagiyg ffnqaflvff
      481 ilvclfefls niysk
//
LOCUS       XP_047301888             885 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-specific gene 10 protein isoform X3 [Homo sapiens].
ACCESSION   XP_047301888
VERSION     XP_047301888.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445932.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..885
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..885
                     /product="testis-specific gene 10 protein isoform X3"
                     /calculated_mol_wt=102780
     Region          64..829
                     /region_name="SMC_prok_A"
                     /note="chromosome segregation protein SMC, primarily
                     archaeal type; TIGR02169"
                     /db_xref="CDD:274009"
     Region          <327..691
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..885
                     /gene="TSGA10"
                     /gene_synonym="CEP4L; CT79; SPGF26"
                     /coded_by="XM_047445932.1:253..2910"
                     /db_xref="GeneID:80705"
                     /db_xref="HGNC:HGNC:14927"
                     /db_xref="MIM:607166"
ORIGIN      
        1 mgnytssqgs kvttkeydfg lgapvseaen yqntlqleqe vrnqdrfist lklqiedlkq
       61 tnhgleeyvr klldskevvs sqvddltshn ehlckeliki dqlaeqleke knfvvdsank
      121 eleeakidli cqqnniivle dtikrlksii ldtekaqnks psrldsfvkt leadkdhyks
      181 eaqhlrkmmr srsksprrps ptargancdv ellktttrdr eelkcmleky erhlaeiqgn
      241 vkvlkserdk ifllyeqaqe eitrlrremm ksckspkstt ahailrrvet erdvaftdlr
      301 rmtterdslr erlkiaqeta fnekahleqr ieelectvhn lddermeqms nmtlmketis
      361 tvekemksla rkamdtesel grqkaennsl rllyentekd lsdtqrhlak kkyelqltqe
      421 kimcldekid nftrqniaqr eeisilggtl ndlakekecl qacldkksen iaslgeslam
      481 kektisgmkn iiaemeqasr qctealivce qdvsrmrrql detndelaqi arerdilahd
      541 ndnlqeqfak akqenqalsk klndthneln dikqkvqdtn levnklknil kseesenrqm
      601 meqlrkaned aenwenkarq seadnntlkl elitaeaegn rlkekvdsln reveqhlnae
      661 rsyksqistl hksvvkmeee lqkvqfekvs aladlsstre lcikldsske llnrqlvakd
      721 qeiemrenel dsahseiell rsqmaneris mqnleallva nrdkeyqsqi alqekeseiq
      781 llkehlclae nkmaiqsrdv aqfrnvvtql eadlditkrq lgterferer avqelrrqny
      841 ssnayhmsst mkpntkchsp erahhrspdr gldrsleenl cyrdf
//
LOCUS       XP_024308973             487 aa            linear   PRI 20-MAR-2023
DEFINITION  interleukin-18 receptor 1 isoform X4 [Homo sapiens].
ACCESSION   XP_024308973
VERSION     XP_024308973.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453205.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..487
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..487
                     /product="interleukin-18 receptor 1 isoform X4"
                     /calculated_mol_wt=56089
     Region          32..149
                     /region_name="Ig_6"
                     /note="Immunoglobulin domain; pfam18452"
                     /db_xref="CDD:436512"
     Region          129..208
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          136..140
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          168..172
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          <171..312
                     /region_name="PHA02785"
                     /note="IL-beta-binding protein; Provisional"
                     /db_xref="CDD:165149"
     Region          182..187
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          199..202
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          324..466
                     /region_name="TIR"
                     /note="TIR domain; pfam01582"
                     /db_xref="CDD:396246"
     CDS             1..487
                     /gene="IL18R1"
                     /gene_synonym="CD218a; CDw218a; IL-18R-alpha; IL-18Ralpha;
                     IL-1Rrp; IL18RA; IL18Ralpha2; IL1RRP"
                     /coded_by="XM_024453205.2:634..2097"
                     /db_xref="GeneID:8809"
                     /db_xref="HGNC:HGNC:5988"
                     /db_xref="MIM:604494"
ORIGIN      
        1 mncrelpltl wvlisvstae sctsrphitv vegepfylkh cscslaheie tttkswykss
       61 gsqehvelnp rsssrialhd cvlefwpvel ndtgsyffqm knytqkwkln virrnkhscf
      121 terqvtskiv evkkffqitc ensyyqtlvn stslyknckk lllennknpt ikknaefedq
      181 gyyscvhflh hngklfnitk tfnitivedr snivpvllgp klnhvavelg knvrlncsal
      241 lneedviywm fgeengsdpn iheekemrim tpegkwhask vlrieniges nlnvlynctv
      301 astggtdtks filvrkdgkt ydafvsylke crpengeeht faveilprvl ekhfgyklci
      361 ferdvvpgga vvdeihslie ksrrliivls ksymsnevry elesglheal verkikiili
      421 eftpvtdftf lpqslkllks hrvlkwkadk slsynsrfwk nllylmpakt vkpgrdepev
      481 lpvlses
//
LOCUS       XP_047296110             370 aa            linear   PRI 20-MAR-2023
DEFINITION  nociceptin receptor isoform X2 [Homo sapiens].
ACCESSION   XP_047296110
VERSION     XP_047296110.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440154.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..370
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..370
                     /product="nociceptin receptor isoform X2"
                     /calculated_mol_wt=40562
     Region          52..330
                     /region_name="7tmA_NOFQ_opioid_R"
                     /note="nociceptin/orphanin FQ peptide receptor, member of
                     the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15092"
                     /db_xref="CDD:320220"
     Region          53..79
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320220"
     Region          86..112
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320220"
     Site            order(107,110..111,123..128,130..131,134,179,181..185,212,
                     215..217,219..221,223..224,276,279..280,282..283,286,
                     297..298,300..302,305,308..309)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320220"
     Region          123..153
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320220"
     Region          165..187
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320220"
     Region          212..241
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320220"
     Region          256..286
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320220"
     Region          298..323
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320220"
     CDS             1..370
                     /gene="OPRL1"
                     /gene_synonym="KOR-3; KOR3; NOCIR; NOP; NOPr; OOR; OPRL;
                     ORL1; PNOCR"
                     /coded_by="XM_047440154.1:414..1526"
                     /db_xref="GeneID:4987"
                     /db_xref="HGNC:HGNC:8155"
                     /db_xref="MIM:602548"
ORIGIN      
        1 meplfpapfw eviygshlqg nlsllspnhs llpphlllna shgaflplgl kvtivglyla
       61 vcvggllgnc lvmyvilrht kmktatniyi fnlaladtlv lltlpfqgtd illgfwpfgn
      121 alcktviaid yynmftstft ltamsvdryv aichpirald vrtsskaqav nvaiwalasv
      181 vgvpvaimgs aqvedeeiec lveiptpqdy wgpvfaicif lfsfivpvlv isvcyslmir
      241 rlrgvrllsg srekdrnlrr itrlvlvvva vfvgcwtpvq vfvlaqglgv qpssetavai
      301 lrfctalgyv nsclnpilya fldenfkacf rkfccasalr rdvqvsdrvr siakdvalac
      361 ktsetvprpa
//
LOCUS       XP_006723666             564 aa            linear   PRI 20-MAR-2023
DEFINITION  double-strand-break repair protein rad21-like protein 1 isoform X1
            [Homo sapiens].
ACCESSION   XP_006723666
VERSION     XP_006723666.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006723603.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..564
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..564
                     /product="double-strand-break repair protein rad21-like
                     protein 1 isoform X1"
                     /calculated_mol_wt=64054
     Region          1..100
                     /region_name="Rad21_Rec8_N"
                     /note="N-terminus of Rad21 / Rec8 like protein; pfam04825"
                     /db_xref="CDD:428144"
     Region          290..378
                     /region_name="Rad21_Rec8_M_NXP1-like"
                     /note="Middle HEAT-repeat binding domain found in Homo
                     sapiens nuclear matrix protein 1 (NXP-1) and similar
                     proteins; cd21792"
                     /db_xref="CDD:439294"
     Site            order(296..298,301..308,311,314..315,317..318,320..327,
                     329..335,337..339,342..343,346..356,358..359,370..371,
                     373..378)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:439294"
     Region          510..561
                     /region_name="Rad21_Rec8"
                     /note="Conserved region of Rad21 / Rec8 like protein;
                     pfam04824"
                     /db_xref="CDD:335912"
     CDS             1..564
                     /gene="RAD21L1"
                     /gene_synonym="dJ545L17.2; RAD21L"
                     /coded_by="XM_006723603.3:388..2082"
                     /db_xref="GeneID:642636"
                     /db_xref="HGNC:HGNC:16271"
                     /db_xref="MIM:619533"
ORIGIN      
        1 mfythvlmsk rgplakiwla ahwekkltka hvfecnleit iekilspkvk ialrtsghll
       61 lgvvriynrk akylladcse aflkmkmtfc pglvdlpken feasynaitl peefhdfdtq
      121 nmnaidvseh ftqnqsrpee itlrenfdnd lifqaesfge eseilrrhsf fddnillnss
      181 gpliehssgs ltgerslfyd sgdgfgdega agemidnllq ddqnilledm hlnreislps
      241 eppnslavep dnsecicvpe nekmnetill steeegftld pidisdiaek rkgkkrrlli
      301 dpikelsskv ihkqltsfad tlmvlelapp tqrlmmwkkr ggvhtllsta aqdlihaelk
      361 mvtvptllhl ftkcflssgf klgrkmiqke svreevgnqn ivetsmmqep nyqqelskpq
      421 twkdviggsq hsshedtnkn inseqdivem vslaaeessl mndlfaqeie yspvelesls
      481 neenieterw ngrilqmlnr lresnkmgmq sfslmklcrn sdrkqaaakf ysflvlkkql
      541 aielsqsapy adiiatmgpm fyni
//
LOCUS       XP_016861189             986 aa            linear   PRI 20-MAR-2023
DEFINITION  potassium voltage-gated channel subfamily H member 8 isoform X3
            [Homo sapiens].
ACCESSION   XP_016861189
VERSION     XP_016861189.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017005700.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..986
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..986
                     /product="potassium voltage-gated channel subfamily H
                     member 8 isoform X3"
                     /calculated_mol_wt=109446
     Region          40..135
                     /region_name="PAS_9"
                     /note="PAS domain; pfam13426"
                     /db_xref="CDD:433196"
     Region          <294..>493
                     /region_name="PLN03192"
                     /note="Voltage-dependent potassium channel; Provisional"
                     /db_xref="CDD:215625"
     Region          429..540
                     /region_name="CAP_ED"
                     /note="effector domain of the CAP family of transcription
                     factors; members include CAP (or cAMP receptor protein
                     (CRP)), which binds cAMP, FNR (fumarate and nitrate
                     reduction), which uses an iron-sulfur cluster to sense
                     oxygen) and CooA, a heme containing CO...; cd00038"
                     /db_xref="CDD:237999"
     Site            order(493..494,505..507)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:237999"
     Site            order(527..529,533..535)
                     /site_type="other"
                     /note="flexible hinge region"
                     /db_xref="CDD:237999"
     CDS             1..986
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; Kv12.1"
                     /coded_by="XM_017005700.3:211..3171"
                     /db_xref="GeneID:131096"
                     /db_xref="HGNC:HGNC:18864"
                     /db_xref="MIM:608260"
ORIGIN      
        1 mpvmkgllap qntfldtiat rfdgthsnfi lanaqvakgf pivycsdgfc elagfartev
       61 mqkscsckfl fgvetneqlm lqieksleek tefkgeimfy kkngspfwcl ldivpiknek
      121 gdvvlflasf kditdtkvki tpedkkedkv kgrsragthf dsarrrsrav lyhisghlqr
      181 reknklkinn nvfvdkpafp eykvsdakks kfillhfstf kagwdwlill atfyvavtvp
      241 ynvcfigndd lsttrsttvs diaveilfii gwlhelgkrl espyygnntl ggpsirsayi
      301 aalyftlssl tsvgfgnvsa ntdaekifsi ctmligalmh alvfgnvtai iqrmysrwsl
      361 yhtrtkdlkd firvhhlpqq lkqrmleyfq ttwsvnngid snellkdfpd elrsditmhl
      421 nkeilqlslf ecasrgclrs lslhiktsfc apgeyllrqg dalqaiyfvc sgsmevlkds
      481 mvlailgkgd liganlsikd qviktnadvk altycdlqci ilkglfevld lypeyahkfv
      541 ediqhdltyn lreghesdvi srlsnksmvs qsepkgngni nkrlpsived eeeeeegeee
      601 eavslspict rgsssrnkkv gsnkaylgls lkqlasgtvp fhspirvsrs nspktkqeid
      661 ppnhnkrkek nlklqlstln nagppdlsps rivdgiedgn sseesqtfdf gserirsepr
      721 ispplgdpei gaavlfikae etkqqinkln sevttltqev sqlgkdmrnv iqllenvlsp
      781 qqpsrfcslh stsvcpsres lqtrtswsah qpclhlqtgg aaytqaqlcs snitsdiwsv
      841 dpssvgsspq rtgaheqnpa dselyhspsl dyspshyqvv qeghlqflrc isphsdstlt
      901 plqsisatls ssvcsssets lhlvlpsrse egsfsqgtvs sfslenlpgs wnqegmasas
      961 tkplenlple vvtstaevkd nkainv
//
LOCUS       XP_047303830             384 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 620 isoform X3 [Homo sapiens].
ACCESSION   XP_047303830
VERSION     XP_047303830.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047447874.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..384
                     /product="zinc finger protein 620 isoform X3"
                     /calculated_mol_wt=44151
     Region          10..51
                     /region_name="KRAB"
                     /note="KRAB box; pfam01352"
                     /db_xref="CDD:426216"
     Region          136..152
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          160..180
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <184..328
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          188..208
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(193,195,197,199..200,203..204,207,221,223,227..228,
                     231..232,235,249,251,253,255..256,259..260,263)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          216..236
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          244..264
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          272..292
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(277,279,281,283..284,287..288,291,305,307,311..312,
                     315..316,319,333,335,337,339..340,343..344,347)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          300..320
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          326..348
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          328..348
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          341..364
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          356..376
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..384
                     /gene="ZNF620"
                     /coded_by="XM_047447874.1:212..1366"
                     /db_xref="GeneID:253639"
                     /db_xref="HGNC:HGNC:28742"
ORIGIN      
        1 mfqtawrqep vtfedvavyf tqnewaslds vqralyrevm lenyanvasl gdeartekeg
       61 ltpkdhvske tesfrlmvgg lpgnvsqhld fgssleqpqg hwiiktkskr rhftdtsarh
      121 heayevknge kfeklgknis vstqlttnqt npsgqisyec gqcgryfiqm adfhrhekch
      181 tgeksfecke cgkyfrynsl lirhqiihtg kkpfkckecg kglssdtali qhqrihtgek
      241 pyeckecgka fssssvflqh qrfhtgekly ecnecwktfs csssftvhqr mhtgekpyec
      301 kecgkrlssn taltqhqrih tgekpfecke cgkafnqkit liqhqrvhtg ekpyeckvcg
      361 ktfswcgrfi lhqklhtqkt pvqa
//
LOCUS       XP_024309257            1633 aa            linear   PRI 20-MAR-2023
DEFINITION  histone-lysine N-methyltransferase SETD2 isoform X4 [Homo sapiens].
ACCESSION   XP_024309257
VERSION     XP_024309257.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453489.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1633
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..1633
                     /product="histone-lysine N-methyltransferase SETD2 isoform
                     X4"
                     /calculated_mol_wt=183170
     Region          1451..1505
                     /region_name="AWS"
                     /note="associated with SET domains; smart00570"
                     /db_xref="CDD:197795"
     Region          1505..>1595
                     /region_name="SET"
                     /note="SET (Su(var)3-9, Enhancer-of-zeste, Trithorax)
                     domain superfamily; cl40432"
                     /db_xref="CDD:394802"
     Site            order(1517..1518,1581..1585)
                     /site_type="other"
                     /note="SAM binding site [polypeptide binding]"
                     /db_xref="CDD:380914"
     CDS             1..1633
                     /gene="SETD2"
                     /gene_synonym="HBP231; HIF-1; HIP-1; HSPC069; HYPB; KMT3A;
                     LLS; MRD70; p231HBP; RAPAS; SET2"
                     /coded_by="XM_024453489.1:62..4963"
                     /db_xref="GeneID:29072"
                     /db_xref="HGNC:HGNC:18420"
                     /db_xref="MIM:612778"
ORIGIN      
        1 mfkgvassrf lpkgtktkvn leeqgrqkvs fsfsltkktl qnrfltalgn ekqsdtpnpp
       61 avplqvdstp kmkmeigdtl staeessppk srvelgkihf kkhllhvtsr pllatttava
      121 sppthaaplp aviaesttvd sppssppppp ppaqattlss papvtepval phtpitvlma
      181 apvplpvdva vrslkeppii ivpesleadt kqdtisnsle ehvtqilneq adisskkeds
      241 higkdeeipd sskislsckk tgskkkssqs egiflgsesd edsvrtsssq rshdlkfsas
      301 iekerdfkks saplksedlg kpsrsktdrd dkyfsyskle rdtryvssrc rsererrrsr
      361 shsrsergsr tnlsysrser shyydsdrry hrsspyrert rysrpytdnr aressdseee
      421 ykktysrrts shsssyrdlr tssysksdrd cktetsylem errgkysskl ereskrtsen
      481 eaikrccspp nelgfrrgss yskhdssasr ykstlskpip ksdkfknsfc ctelneeikq
      541 shsfslqtpc skgselrmin knperekags papsnrlnds ptlkkldelp ifksefithd
      601 shdsikelds lskvkndqlr sfcpielnin gspgaesdla tfctsktdav lmtsddsvtg
      661 selsplvkac mlssngfqni srckekdldd tcmlhkkses pfreteplvs phqdklmsmp
      721 vmtvdysktv vkepvdtrvs ccktkdsdiy ctlndsnpsl cnseaeniep svmkissnsf
      781 mnvhleskpv icdsrnltdh skfaceeykq sigstssasv nhfddlyqpi gssgiasslq
      841 slppgikvds ltllkcgent spvldavlks kksseflkha gketivevgs dlpdsgkgfa
      901 srenrrnngl sgkclqeaqe egnsilperr grpeislder gegghvhtsd dsevvfsscd
      961 lnltmedsdg vtyalkcdss ghapeivstv hedysgsses sndesdsedt dsddssiprn
     1021 rlqsvvvvpk nstlpmeets pcssrssqsy rhysdhwede rlesrrhlye ekfesiaska
     1081 cpqtdkfflh kgteknpeis ftqssrkqid nrlpelshpq sdgvdstsht dvksdplghp
     1141 nseetvkaki psrqqeelpi yssdfedvpn kswqqttfqn rpdsrlgkte lsfsssceip
     1201 hvdglhssee lrnlgwdfsq ekpsttyqqp dssygacggh kyqqnaeqyg gtrdywqgng
     1261 ywdprsgrpp gtgvvydrtq gqvpdsltdd reeeenwdqq dgshfsdqsd kfllslqkdk
     1321 gsvqapeiss nsikdtlavn ekkdfsknle kndikdrgpl kkrrqeiesd sesdgelqdr
     1381 kkvrveveqg etsvppgsal vgpscvmddf rdpqrwkeca kqgkmpcyfd lieenvylte
     1441 rkknkshrdi krmqcectpl skderaqgei acgedclnrl lmiecssrcp ngdycsnrrf
     1501 qrkqhadvev iltekkgwgl raakdlpsnt fvleycgevl dhkefkarvk eyarnknihy
     1561 yfmalkndei idatqkgncs rfmnhscepn cetqkkrspe mflrisqlpg lpgrrkqsqh
     1621 qssrreneeg tis
//
LOCUS       XP_047304250             151 aa            linear   PRI 20-MAR-2023
DEFINITION  inositol hexakisphosphate kinase 2 isoform X9 [Homo sapiens].
ACCESSION   XP_047304250
VERSION     XP_047304250.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448294.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..151
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..151
                     /product="inositol hexakisphosphate kinase 2 isoform X9"
                     /calculated_mol_wt=17093
     CDS             1..151
                     /gene="IP6K2"
                     /gene_synonym="IHPK2; InsP6K2; PIUS"
                     /coded_by="XM_047448294.1:244..699"
                     /db_xref="GeneID:51447"
                     /db_xref="HGNC:HGNC:17313"
                     /db_xref="MIM:606992"
ORIGIN      
        1 mslnlpeasl lraswpeqak eprreghtdk qqtedvlaag lrclphlpai carrmspafr
       61 amdveprakg vllepfvhqv gghscvlrfn ettlckplvp rehqfyetlp aemrkftpqy
      121 kgqsqrplvs wpslphffpw sfplwpqgsv a
//
LOCUS       XP_011532131             471 aa            linear   PRI 20-MAR-2023
DEFINITION  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 isoform X2
            [Homo sapiens].
ACCESSION   XP_011532131
VERSION     XP_011532131.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011533829.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..471
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..471
                     /product="6-phosphofructo-2-kinase/fructose-2,
                     6-bisphosphatase 4 isoform X2"
                     /calculated_mol_wt=54346
     Region          37..251
                     /region_name="6PF2K"
                     /note="6-phosphofructo-2-kinase; pfam01591"
                     /db_xref="CDD:396253"
     Region          254..440
                     /region_name="His_Phos_1"
                     /note="Histidine phosphatase superfamily (branch 1);
                     pfam00300"
                     /db_xref="CDD:425591"
     Site            order(258..259,308,393..394)
                     /site_type="active"
                     /note="catalytic core [active]"
                     /db_xref="CDD:132718"
     CDS             1..471
                     /gene="PFKFB4"
                     /coded_by="XM_011533829.3:1448..2863"
                     /db_xref="GeneID:5210"
                     /db_xref="HGNC:HGNC:8875"
                     /db_xref="MIM:605320"
ORIGIN      
        1 mevlqqevln khkategwdv resqwcaprp rhmvvcmtnc ptlivmvglp argktyiskk
       61 ltrylnwigv ptrefnvgqy rrdvvktyks fefflpdnee glkirkqcal aalrdvrrfl
      121 seegghvavf datnttrerr atifnfgeqn gyktffvesi cvdpeviaan ivqvklgspd
      181 yvnrdsdeat edfmrriecy ensyeslded ldrdlsyiki mdvgqsyvvn rvadhiqsri
      241 vyylmnihvt prsiylcrhg eselnlkgri ggdpglsprg refakslaqf isdqnikdlk
      301 vwtsqmkrti qtaealgvpy eqwkvlneid agvceemtye eiqdnyplef alrdqdkyry
      361 rypkgesyed lvqrlepvim elerqenvlv ichqavmrcl layfldkaae qlpylkcplh
      421 tvlkltpvay gckvesifln vaavnthrdr pqnvdisrpp eealvtvpah q
//
LOCUS       XP_047304528             371 aa            linear   PRI 20-MAR-2023
DEFINITION  glycosyltransferase 8 domain-containing protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_047304528
VERSION     XP_047304528.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047448572.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..371
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..371
                     /product="glycosyltransferase 8 domain-containing protein
                     1 isoform X1"
                     /calculated_mol_wt=41804
     Region          66..351
                     /region_name="GT8_like_1"
                     /note="GT8_like_1 represents a subfamily of GT8 with
                     unknown function; cd06429"
                     /db_xref="CDD:133051"
     Site            order(71..74,76,154,169,171..173,198,242..244,285..286,
                     307..308,328,330..331,334)
                     /site_type="active"
                     /note="putative ligand binding site [active]"
                     /db_xref="CDD:133051"
     Site            order(171,173,328)
                     /site_type="active"
                     /note="metal binding site [active]"
                     /db_xref="CDD:133051"
     CDS             1..371
                     /gene="GLT8D1"
                     /gene_synonym="AD-017; MSTP139"
                     /coded_by="XM_047448572.1:707..1822"
                     /db_xref="GeneID:55830"
                     /db_xref="HGNC:HGNC:24870"
                     /db_xref="MIM:618399"
ORIGIN      
        1 msfrkvniii lvlavalfll vlhhnflsls sllrnevtds givgpqpidf vpnalrhavd
       61 grqeeipvvi aasedrlgga iaainsiqhn trsnvifyiv tlnntadhlr swlnsdslks
      121 irykivnfdp kllegkvked pdqgesmkpl tfarfylpil vpsakkaiym dddvivqgdi
      181 lalyntalkp ghaaafsedc dsastkvvir gagnqynyig yldykkerir klsmkastcs
      241 fnpgvfvanl tewkrqnitn qlekwmklnv eeglysrtla gsittpplli vfyqqhstid
      301 pmwnvrhlgs sagkryspqf vkaakllhwn ghlkpwgrta sytdvwekwy ipdptgkfnl
      361 irryteisni k
//
LOCUS       XP_047305885            1452 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 131-like isoform X38 [Homo sapiens].
ACCESSION   XP_047305885
VERSION     XP_047305885.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047449929.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1452
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1452
                     /product="transmembrane protein 131-like isoform X38"
                     /calculated_mol_wt=161848
     Region          120..203
                     /region_name="ASH"
                     /note="Abnormal spindle-like microcephaly-assoc'd,
                     ASPM-SPD-2-Hydin; cl13764"
                     /db_xref="CDD:449188"
     Region          214..1431
                     /region_name="TMEM131_like"
                     /note="Transmembrane protein 131-like; pfam19532"
                     /db_xref="CDD:437364"
     CDS             1..1452
                     /gene="TMEM131L"
                     /gene_synonym="KIAA0922"
                     /coded_by="XM_047449929.1:547..4905"
                     /db_xref="GeneID:23240"
                     /db_xref="HGNC:HGNC:29146"
                     /db_xref="MIM:616243"
ORIGIN      
        1 mlglrspecl vgclhshfvp ppparaprac lhavafaseg ppahtppivf lslarpwdgl
       61 csqeeketcf aieplpnvve lwqaeegell lptqgdseeg leepsqeqsf sdklfsgkgl
      121 hfqpsvldfg iqflghpvak ilhaynpsrd sevvvnsvfa aaghfhvppv pcrvipamgk
      181 tsfriiflpt eegsiesslf intssygvls yhvsgigtrr istegsakql pnayfllpkv
      241 qsiqlsqmqa ettntsllqv qlecslhnkv cqqlkgcyle sddvlrlqms imvtmenfsk
      301 efeentqhll dhlsivyvat desetsddsa vnmyilhsgn sliwiqdirh fsqrdalslq
      361 fepvllptst tnftkiasft ckaatscdsg iiedvkktth tptlkaclfs svaqgyfrmd
      421 ssatqfhiet hentsglwsi wyrnhfdrsv vlndvflske tkhmlkilnf tgplflppgc
      481 wnifslklav kdiainlftn vflttnigai faiplqiysa ptkegslgfe viahcgmhyf
      541 mgkskagnpn wngslsldqs twnvdselan klyerwkkyk ngdvckrnvl gttrfahlkk
      601 skesesfvff lprliaepgl mlnfsatalr srmikyfvvq npsswpvslq llplslypkp
      661 ealvhllhrw fgtdmqminf ttgefqltea cpylgthsee srfgilhlhl qplemkrvgv
      721 vftpadygkv tslilirnnl tvidmigveg fgarellkvg grlpgaggsl rfkvpestlm
      781 dcrrqlkdsk qilsitknfk venigplpit vsslkingyn cqgygfevld chqfsldpnt
      841 srdisivftp dftsswvird lslvtaadle frftlnvtlp hhllplcadv vpgpsweesf
      901 wrltvffvsl sllgviliaf qqaqyilmef mktrqrqnas sssqqnngpm dvisphsyks
      961 ncknfldtyg psdkgrgknc lpvntpqsri qnaakrspat yghsqkkhkc svyyskhkts
     1021 taaasststt teekqtsplg sslpaakedi ctdamrenwi slryasginv nlqknltlpk
     1081 nllnkeentl kntivfsnps secsmkegiq tcmfpketdi ktsentaefk erelcplkts
     1141 kklpenhlpr nspqyhqpdl peisrknngn nqqvpvknev dhcenlkkvd tkpssekkih
     1201 ktsredmfse kqdipfveqe dpyrkkklqe kregnlqnln wsksrtcrkn kkrgvapvsr
     1261 ppeqsdlklv csdfersels sdinvrswci qestrevcka daeiasslpa aqreaegyyq
     1321 kpekkcvdkf csdsssdcgs ssgsvrasrg swgswsstss sdgdkkpmvd aqhflpagds
     1381 vsqndfpsea pislnlshni cnpmtvnslp qyaepscpsl pagptgveed kvsligvqha
     1441 kasfpahtvh wn
//
LOCUS       XP_011532696             321 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 165 isoform X1 [Homo sapiens].
ACCESSION   XP_011532696
VERSION     XP_011532696.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011534394.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..321
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..321
                     /product="transmembrane protein 165 isoform X1"
                     /calculated_mol_wt=34609
     Region          96..299
                     /region_name="Gdt1"
                     /note="Putative Ca2+/H+ antiporter, TMEM165/GDT1 family
                     [General function prediction only]; COG2119"
                     /db_xref="CDD:225030"
     CDS             1..321
                     /gene="TMEM165"
                     /gene_synonym="CDG2K; FT27; GDT1; SLC64A1; TMPT27; TPARL"
                     /coded_by="XM_011534394.4:234..1199"
                     /db_xref="GeneID:55858"
                     /db_xref="HGNC:HGNC:30760"
                     /db_xref="MIM:614726"
ORIGIN      
        1 maaaapgngr asaprllllf lvpllwapaa vragpdedls hrnkeppapa qqlqpqpvav
       61 qgpeparvek iftpaapvht nkedpatqtn lgfihafvaa isviivselg dktffiaaim
      121 amrynrltvl agamlalglm tclsvlfgya ttviprvyty yvstvlfaif girmlreglk
      181 mspdegqeel eevqaelkkk deefqrtkll ngpgdvetgt sitvpqkkwl hfispifvqa
      241 ltltflaewg drsqlttivl aaredpygva vggtvghclc tglaviggrm iaqkisvrtg
      301 sfspwlilha csdgkghler n
//
LOCUS       XP_005263215            1144 aa            linear   PRI 20-MAR-2023
DEFINITION  folliculin-interacting protein 2 isoform X2 [Homo sapiens].
ACCESSION   XP_005263215
VERSION     XP_005263215.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005263158.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000004.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1144
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
     Protein         1..1144
                     /product="folliculin-interacting protein 2 isoform X2"
                     /calculated_mol_wt=125045
     Region          46..168
                     /region_name="FNIP_N"
                     /note="Folliculin-interacting protein N-terminus;
                     pfam14636"
                     /db_xref="CDD:434086"
     Region          327..560
                     /region_name="FNIP_M"
                     /note="Folliculin-interacting protein middle domain;
                     pfam14637"
                     /db_xref="CDD:434087"
     Region          957..1140
                     /region_name="FNIP_C"
                     /note="Folliculin-interacting protein C-terminus;
                     pfam14638"
                     /db_xref="CDD:434088"
     CDS             1..1144
                     /gene="FNIP2"
                     /gene_synonym="FNIPL; MAPO1"
                     /coded_by="XM_005263158.3:188..3622"
                     /db_xref="GeneID:57600"
                     /db_xref="HGNC:HGNC:29280"
                     /db_xref="MIM:612768"
ORIGIN      
        1 maptllqklf nkrgssgssa aasaqgrapk egpafswscs efdlneirli vyqdcdrrgr
       61 qvlfdskavq kieevtaqkt edvpikisak ccqgsssvss sssssisshs ssggsshhak
      121 eqlpkyqytr pasdvnmlge mmfgsvamsy kgstlkihyi rsppqlmisk vfsarmgsfc
      181 gstnnlqdsf eyinqdpnlg klntnqnslg pcrtgsnlgl lqacsskllq gvaeggplrl
      241 trsasffaah stpvdmpsrg qnedrdsgia rsaslsslli tpfpspssst sssssyqrrw
      301 lrsqttslen giiprrstde tfslaeetcs snpamvrrkk iaisiifslc ekeeaqrnfq
      361 dfffshfplf eshmnrlksa iekamiscrk iaesslrvqf yvsrlmealg efrgtiwnly
      421 svpriaepvw ltmmsgtlek nqlcqrflke ftllieqink nqffaallta vltyhlawvp
      481 tvmpvdhppi kafsekrtsq svnmlakthp ynplwaqlgd lygaigspvr ltrtvvvgkq
      541 kdlvqrilyv ltyflrcsel qenqltwsgn hgegdqvlng skiitalekg eveeseyvvi
      601 tvrnepalvp pilpptaaer hnpwptgfpe cpegtdsrdl glkpdkeanr rpeqgseacs
      661 agclgpasda swkpqnafcg deknkeapqd gssrlpscev lgagmkmdqq avcellkvem
      721 ptrlpdrsva wpcpdrhlre kpslekvtfq igsfaspesd fesrmkkmee rvkacgpsle
      781 aseaadvaqd pqvsrspfkp gfqenvccpq nrlsegdege sdkgfaedrg srndmaadia
      841 gqlshaadlg tashgaggtg grrleatrgl yvkaaegpvl epvaprcvqr gpglvagani
      901 pcgddnkkan frtegdiprn essdsalgds ddeacasaml dlghggdrtg gslevelplp
      961 rsqsistqnv rnfgrsllag ycptympdlv lhgtgsdekl kqclvadlvh tvhhpvldep
     1021 iaeavciiad tdkwsvqvat sqrkvtdnmk lgqdvlvssq vssllqsilq lyklhlpadf
     1081 cimhledrlq emylkskmls eylrghtrvh vkelgvvlgi esndlpllta iasthspyva
     1141 qill
//
LOCUS       XP_047272641            1147 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptopodin isoform X1 [Homo sapiens].
ACCESSION   XP_047272641
VERSION     XP_047272641.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047416685.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1147
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..1147
                     /product="synaptopodin isoform X1"
                     /calculated_mol_wt=122062
     Region          <180..611
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <259..>386
                     /region_name="PRK13914"
                     /note="invasion associated endopeptidase"
                     /db_xref="CDD:237555"
     Region          <743..1144
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..1147
                     /gene="SYNPO"
                     /coded_by="XM_047416685.1:802..4245"
                     /db_xref="GeneID:11346"
                     /db_xref="HGNC:HGNC:30672"
                     /db_xref="MIM:608155"
ORIGIN      
        1 mlgphlpppp lapsegrptp cafqipdgsy rclaleaees sgeeglqgev gptdleedeg
       61 vsrsgddsac rvtqgtpqlp kalgiqppsc sreeqgasqh ddrasqdwdv vkagqmmtas
      121 pspgpgprva qkpalgrsts ltekdlkeak arsqqiaaql ttppssnsrg vqlfnrrrqr
      181 vneftleshg qrgqkpsqes lrvlpsslpg hapglslsst slpepgpprh pspqspdrgv
      241 pghsmegyse easllrhlek vaseeeevpl vvylkenaal ltanglhlsq nreaqqsspa
      301 pppaevhspa advnqnlasp satlttptsn sshnppatdv nqnppatvvp qslplssiqq
      361 nsseaqlpsn gtgpaskpst lcadgqpqap aeevrcstll idkvstpatt tstfsreatl
      421 ipssrppasd fmsssllidi qpntlvvsad qemsgraaat tptkvysevh ftlakppsvv
      481 nrtarpfgiq apggtsqmer spmlerrhfg ekapapqpps lpdrsprpqr himsrspmve
      541 rrmmgqrspa serrplgnft apptytetls taplaswvrs ppsysvlyps sdpksshlkg
      601 qavpasktgi leesmarrgs rksmftfvek pkvtpnpdll dlvqtadekr rqrdqgevgv
      661 eeepfalgae asnfqqepap rdraspaaae evvpewascl kspriqakpk pkpnqnlsea
      721 sgkgaelyar rqsrmekyvi essshtpela rcpsptmslp sswkyptnap gafrvasrsp
      781 artppaslyh gylpengvlr peptkqppyq lrpslfvlsp ikepakvspr aaspakpssl
      841 dlvpnlpkga lppspalprp srsspglyts pgqdslqpta vsppyggdis pvspsrawsp
      901 rakqaprpsf strnagieaq drreslptsp pwtpgasrpp ssldgwvspg pwepgrgssm
      961 ssppplpppp pmspswsers vsplrpetea rppsrqlqal larniinaar rksasprsag
     1021 aenprpfspp rapppppppp pppprmrspq parpgsaavp gaafapiprs plpagpssct
     1081 sprsplpapp rpflyrrspt dsdvsldsed sgakspgilg ynicprgwng slrlkrgslp
     1141 aeasctt
//
LOCUS       XP_047273858             474 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase RNF14 isoform X1 [Homo sapiens].
ACCESSION   XP_047273858
VERSION     XP_047273858.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047417902.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..474
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..474
                     /product="E3 ubiquitin-protein ligase RNF14 isoform X1"
                     /calculated_mol_wt=53707
     Region          7..133
                     /region_name="RWD"
                     /note="RWD domain; pfam05773"
                     /db_xref="CDD:399058"
     Region          213..271
                     /region_name="RING-HC_RBR_RNF14"
                     /note="RING finger, HC subclass, found in RING finger
                     protein 14 (RNF14) and similar proteins; cd16628"
                     /db_xref="CDD:438290"
     Region          300..356
                     /region_name="BRcat_RBR_RNF14"
                     /note="BRcat domain found in RING finger protein 14
                     (RNF14); cd20341"
                     /db_xref="CDD:439002"
     Region          389..456
                     /region_name="Rcat_RBR_RNF14"
                     /note="Rcat domain found in RING finger protein 14
                     (RNF14); cd20354"
                     /db_xref="CDD:439015"
     Site            417
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:439015"
     CDS             1..474
                     /gene="RNF14"
                     /gene_synonym="ARA54; HFB30; HRIHFB2038; TRIAD2"
                     /coded_by="XM_047417902.1:392..1816"
                     /db_xref="GeneID:9604"
                     /db_xref="HGNC:HGNC:10058"
                     /db_xref="MIM:605675"
ORIGIN      
        1 mssedreaqe dellalasiy dgdefrkaes vqggetriyl dlpqnfkifv sgnsneclqn
       61 sgfeyticfl pplvlnfelp pdypssspps ftlsgkwlsp tqlsalckhl dnlweehrgs
      121 vvlfawmqfl keetlaylni vspfelkigs qkkvqrrtaq aspnteldfg gaagsdvdqe
      181 eivderavqd veslsnliqe ildfdqaqqi kcfnsklflc sicfceklgs ecmyflecrh
      241 vyckaclkdy feiqirdgqv qclncpepkc psvatpgqvk elveaelfar ydrlllqssl
      301 dlmadvvycp rpccqlpvmq epgctmgics scnfafctlc rltyhgvspc kvtaeklmdl
      361 rneylqadea nkrlldqryg krviqkalee meskewlekn skscpccgtp iekldgcnkm
      421 tctgcmqyfc wicmgslsra npykhfndpg spcfnrlfya vdvdddiwed eved
//
LOCUS       XP_011513020             558 aa            linear   PRI 20-MAR-2023
DEFINITION  threonylcarbamoyladenosine tRNA methylthiotransferase isoform X2
            [Homo sapiens].
ACCESSION   XP_011513020
VERSION     XP_011513020.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011514718.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..558
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..558
                     /product="threonylcarbamoyladenosine tRNA
                     methylthiotransferase isoform X2"
                     /calculated_mol_wt=62378
     Region          65..481
                     /region_name="MiaB-like-B"
                     /note="MiaB-like tRNA modifying enzyme, archaeal-type;
                     TIGR01578"
                     /db_xref="CDD:273703"
     CDS             1..558
                     /gene="CDKAL1"
                     /coded_by="XM_011514718.1:168..1844"
                     /db_xref="GeneID:54901"
                     /db_xref="HGNC:HGNC:21050"
                     /db_xref="MIM:611259"
ORIGIN      
        1 mpsascdtll ddiedivsqe dskpqdrhfv rkdvvpkvrr rntqkylqee ensppsdsti
       61 pgiqkiwirt wgcshnnsdg eymagqlaay gykitenasd adlwllnsct vknpaedhfr
      121 nsikkaqeen kkivlagcvp qaqprqdylk glsiigvqqi drvvevveet ikghsvrllg
      181 qkkdngrrlg garldlpkir knplieiisi ntgclnacty cktkhargnl asypidelvd
      241 rakqsfqegv ceiwltsedt gaygrdigtn lptllwklve vipegamlrl gmtnppyile
      301 hleemakiln hprvyaflhi pvqsasdsvl memkreycva dfkrvvdflk ekvpgitiat
      361 diicgfpget dqdfqetvkl veeykfpslf inqfyprpgt paakmeqvpa qvigerqqvl
      421 vteesfdskf yvahnqfyeq vlvpknpafm gkmvevdiye sgkhfmkgqp vsdakvytps
      481 iskplakgev sgltkdfrng lgnqlssgsh tsaasqcdsa ssrmvlpmpr lhqdcalrms
      541 vglallgllf affvkvyn
//
LOCUS       XP_047275347             107 aa            linear   PRI 20-MAR-2023
DEFINITION  SH3 domain-binding glutamic acid-rich-like protein 2 isoform X2
            [Homo sapiens].
ACCESSION   XP_047275347
VERSION     XP_047275347.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419391.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..107
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..107
                     /product="SH3 domain-binding glutamic acid-rich-like
                     protein 2 isoform X2"
                     /calculated_mol_wt=12195
     Region          2..97
                     /region_name="GRX_SH3BGR"
                     /note="Glutaredoxin (GRX) family, SH3BGR (SH3 domain
                     binding glutamic acid-rich protein) subfamily; a
                     recently-identified subfamily composed of SH3BGR and
                     similar proteins possessing significant sequence
                     similarity to GRX, but without a redox active CXXC motif;
                     cd03030"
                     /db_xref="CDD:239328"
     CDS             1..107
                     /gene="SH3BGRL2"
                     /coded_by="XM_047419391.1:5410..5733"
                     /db_xref="GeneID:83699"
                     /db_xref="HGNC:HGNC:15567"
                     /db_xref="MIM:615678"
ORIGIN      
        1 mvirvfiass sgfvaikkkq qdvvrflean kiefeevdit mseeqrqwmy knvppekkpt
       61 qgnplppqif ngdrycgdyd sffeskesnt vfsflglkpr laskaep
//
LOCUS       XP_016867890            1318 aa            linear   PRI 20-MAR-2023
DEFINITION  neurabin-1 isoform X14 [Homo sapiens].
ACCESSION   XP_016867890
VERSION     XP_016867890.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017012401.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1318
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1318
                     /product="neurabin-1 isoform X14"
                     /calculated_mol_wt=147474
     Region          434..497
                     /region_name="PDZ_5"
                     /note="PDZ domain; pfam17817"
                     /db_xref="CDD:436065"
     Region          501..592
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(513..516,518,573..574,577..578)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     Region          <680..>919
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          1202..1271
                     /region_name="SAM_Neurabin-like"
                     /note="SAM domain of SAM_Neurabin-like subfamily; cd09512"
                     /db_xref="CDD:188911"
     CDS             1..1318
                     /gene="PPP1R9A"
                     /gene_synonym="Neurabin-I; NRB1; NRBI"
                     /coded_by="XM_017012401.2:326..4282"
                     /db_xref="GeneID:55607"
                     /db_xref="HGNC:HGNC:14946"
                     /db_xref="MIM:602468"
ORIGIN      
        1 mlktessger ttlrsasphr nayrtefqal kstfdkpksd geqktkegeg sqqsrgrkyg
       61 snvnriknlf mqmgmepnen aaviaktrgk gghsspqrrm kpkeflektd gsvvklessv
      121 serisrfdtm ydgpsyskft etrkmfersv hesgqnnrys pkkekaggse pqdewggsks
      181 nrgstdslds lssrteavsp tvsqlsavfe ntdspsaiis ekaenneysv tghyplnlps
      241 vtvtnldtfg hlkdsnswpp snkrgvdted ahksnatpvp evaskstsla sipgeeiqqs
      301 kepedstsnq qtpdsidkdg peepcaeska mpkseipspq sqlledaean lvgreaakqq
      361 rkelaggdft spdasasscg kevpedsnnf dgshvymhsd ynvyrvrsry nsdwgetgte
      421 qdeeedsden syyqpdmeys eivglpeeee ipanrkikfs sapikvfnty snedydrrnd
      481 evdpvaasae yelekrvekl elfpvelekd edglgisiig mgvgadagle klgifvktvt
      541 eggaaqrdgr iqvndqivev dgislvgvtq nfaatvlrnt kgnvrfvigr ekpgqvseva
      601 qlisqtleqe rrqrelleqh yaqydaddde ntvaelqgms gncnnnnnyf lktgeyatde
      661 eedevgpvlp gsdmaievfe lpenedmfsp seldtsklsh kfkelqikha vteaeiqklk
      721 tklqaaenek vrwelektql qqnieenker mlklesywie aqtlchtvne hlketqsqyq
      781 alekkynkak klikdfqqke ldfikrqeae rkkiedleka hlvevqglqv rirdleaevf
      841 rllkqngtqv nnnnniferr tslgevskgd tmenldgkqt scqdglsqdl neavpeterl
      901 dskalktraq lsvknrrqrp srtrlydsvs stdgedsler kglrtsspes dsgvppltpv
      961 dsnvpfssdh iaefqeepld pemgplssmw gdtslfstsk sdhdveespc hhqttnkkil
     1021 rekddakdpk slrassslav qggkikrkfv dlgaplrrns skgkkwkeke keasrfsags
     1081 rifrgrlenw tpkpcstaqt strspcmpfs wfndsrkgsy sfrnlpapts slqpspetli
     1141 sdkkgsknft fnddfspsst ssadlsglga epktpglsqs lalssdeild dgqspkhsqc
     1201 qnravqewsv qqvshwlmsl nleqyvsefs aqnitgeqll qldgnklkal gmtasqdrav
     1261 vkkklkemkm slekarkaqe kmekqreklr rkeqeqmqrk skktekmtst taegageq
//
LOCUS       XP_047276952             275 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleotide sugar transporter SLC35B4 isoform X2 [Homo sapiens].
ACCESSION   XP_047276952
VERSION     XP_047276952.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420996.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..275
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..275
                     /product="nucleotide sugar transporter SLC35B4 isoform X2"
                     /calculated_mol_wt=30553
     Region          2..>251
                     /region_name="UAA"
                     /note="UAA transporter family; pfam08449"
                     /db_xref="CDD:312076"
     CDS             1..275
                     /gene="SLC35B4"
                     /gene_synonym="YEA; YEA4"
                     /coded_by="XM_047420996.1:180..1007"
                     /db_xref="GeneID:84912"
                     /db_xref="HGNC:HGNC:20584"
                     /db_xref="MIM:610923"
ORIGIN      
        1 mrpalavglv fagccsnvif lellarkhpg cgnivtfaqf lfiavegflf eadlgrkppa
       61 ipiryyaimv tmfftvsvvn nyalnlniam plhmifrsgs lianmilgii ilkkrysifk
      121 ytsialvsvg ifictfmsak qvtsqsslse ndgfqafvww llgigaltfa llmsarmgif
      181 qetlykrfgk hskealfynh alplpgfvfl asdiydhavl fnkselyeip vigvtlpimw
      241 fyllmniitq ypldcavtlm sssgsfgtgm vilff
//
LOCUS       XP_016868542             491 aa            linear   PRI 20-MAR-2023
DEFINITION  LETM1 domain-containing protein LETM2, mitochondrial isoform X1
            [Homo sapiens].
ACCESSION   XP_016868542
VERSION     XP_016868542.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017013053.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..491
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..491
                     /product="LETM1 domain-containing protein LETM2,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=55790
     Region          1..111
                     /region_name="LETM2_N"
                     /note="LETM1 domain-containing protein LETM2 N-terminus;
                     pfam19324"
                     /db_xref="CDD:437156"
     Region          124..385
                     /region_name="LETM1"
                     /note="LETM1-like protein; pfam07766"
                     /db_xref="CDD:429648"
     CDS             1..491
                     /gene="LETM2"
                     /gene_synonym="SLC55A2"
                     /coded_by="XM_017013053.2:3806..5281"
                     /db_xref="GeneID:137994"
                     /db_xref="HGNC:HGNC:14648"
ORIGIN      
        1 mafysynsvl aiartrfpsh fvhptcssys pscaflhlpd shlnktcmkn yeskkysdps
       61 qpgntvlhpg trliqklhts tcwlqevpgk pqleqatkhp qvtspqatke tgmeikegkq
      121 syrqkimdel kyyyngfyll widakvaarm vwrllhgqvl trrerrrllr tcvdffrlvp
      181 fmvflivpfm efllpvflkl fpemlpstfe seskkeekqk kkmavklela kflqetmtem
      241 arrnrakmgd astqlssyvk qvqtghkpst keivrfsklf edqlalehld rpqlvalckl
      301 lelqtfgtnn llrfqllmkl ksikaddeii akegvtalsv selqaacrar gmrslgltee
      361 qlrqqltewq dlhlkenvpp sllllsrtfy lidvkpkpie iplsgeapkt dilvelptft
      421 eskenmvdla pqlkgtkded fiqpppvtss pitpstpisl pkgpitssee ptlqaksqmt
      481 aqnskasskg a
//
LOCUS       XP_016868630             354 aa            linear   PRI 20-MAR-2023
DEFINITION  clavesin-1 isoform X1 [Homo sapiens].
ACCESSION   XP_016868630
VERSION     XP_016868630.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017013141.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..354
                     /product="clavesin-1 isoform X1"
                     /calculated_mol_wt=40657
     Region          51..97
                     /region_name="CRAL_TRIO_N"
                     /note="CRAL/TRIO, N-terminal domain; smart01100"
                     /db_xref="CDD:215024"
     Region          128..274
                     /region_name="SEC14"
                     /note="Sec14p-like lipid-binding domain. Found in
                     secretory proteins, such as S. cerevisiae
                     phosphatidylinositol transfer protein (Sec14p), and in
                     lipid regulated proteins such as RhoGAPs, RhoGEFs and
                     neurofibromin (NF1). SEC14 domain of Dbl is known to...;
                     cd00170"
                     /db_xref="CDD:238099"
     Site            order(139,141,143,169,184,186,202,206,210,214,217,220,222,
                     229,236,248)
                     /site_type="other"
                     /note="phospholipid binding pocket [chemical binding]"
                     /db_xref="CDD:238099"
     Site            order(215,247)
                     /site_type="other"
                     /note="salt bridge"
                     /db_xref="CDD:238099"
     CDS             1..354
                     /gene="CLVS1"
                     /gene_synonym="C6orf212L; CRALBPL; RLBP1L1"
                     /coded_by="XM_017013141.2:316..1380"
                     /db_xref="GeneID:157807"
                     /db_xref="HGNC:HGNC:23139"
                     /db_xref="MIM:611292"
ORIGIN      
        1 mgpvsllpky qklntwngdl akmthlqagl spetiekarl elnenpdvlh qdiqqvrdmi
       61 itrpdigflr tddafilrfl rarkfhqada frllaqyfqy rqlnldmfkn fkaddpgikr
      121 alidgfpgvl enrdhygrki lllfaanwdq srnsftdilr aillslevli edpelqingf
      181 iliidwsnfs fkqaskltps ilklaieglq dsfparfggv hfvnqpwyih alytlikpfl
      241 kdktrkrifl hgnnlnslhq lihpeflpse fggtlppydm gtwartllgp dysdendyth
      301 tsynamhvkh tssnlerecs pklmkrsqsv veagtlkhee kgenentqpl lald
//
LOCUS       XP_006716453             605 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium-dependent phosphate transporter 2 isoform X2 [Homo sapiens].
ACCESSION   XP_006716453
VERSION     XP_006716453.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006716390.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..605
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..605
                     /product="sodium-dependent phosphate transporter 2 isoform
                     X2"
                     /calculated_mol_wt=65294
     Region          7..>177
                     /region_name="PHO4"
                     /note="Phosphate transporter family; cl27575"
                     /db_xref="CDD:452761"
     Region          <443..590
                     /region_name="PHO4"
                     /note="Phosphate transporter family; pfam01384"
                     /db_xref="CDD:426233"
     CDS             1..605
                     /gene="SLC20A2"
                     /gene_synonym="GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR;
                     PIT-2; PIT2; Ram-1; RAM1"
                     /coded_by="XM_006716390.5:439..2256"
                     /db_xref="GeneID:6575"
                     /db_xref="HGNC:HGNC:10947"
                     /db_xref="MIM:158378"
ORIGIN      
        1 mamdeylwmv ilgfiiafil afsvgandva nsfgtavgsg vvtlrqacil asifettgsv
       61 llgakvgeti rkgiidvnly netvetlmag evsamvvasw fispllsgfm sgllfvliri
      121 filkkedpvp nglralpvfy aatiainvfs imytgapvlg lvlpmwaial isfgvallfa
      181 ffvwlfvcpw mrrkitgklq kegalsrvsd eslskvqeae spvfkelpga kanddstipl
      241 tgaagetlgt segtsagshp raaygralsm thgsvkspis ngtfgfdght rsdghvyhtv
      301 hkdsglykdl lhkihidrgp eekpaqesny rllrrnnsyt cytaaicglp vhatfraads
      361 sapedseklv gdtvsyskkr lrydsyssyc navaeaeiea eeggvemkla seladpdqpr
      421 edpaeeekee kdapevhllf hflqvltacf gsfahggndv snaigplval wliykqggvt
      481 qeaatpvwll fyggvgictg lwvwgrrviq tmgkdltpit pssgftiela saftvviasn
      541 iglpvstthc kvgsvvavgw irsrkavdwr lfrnifvawf vtvpvaglfs aavmallmyg
      601 ilpyv
//
LOCUS       XP_005251454            1334 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 171 isoform X1 [Homo
            sapiens].
ACCESSION   XP_005251454
VERSION     XP_005251454.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005251397.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1334
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1334
                     /product="coiled-coil domain-containing protein 171
                     isoform X1"
                     /calculated_mol_wt=153582
     Region          60..796
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          455..>1170
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     CDS             1..1334
                     /gene="CCDC171"
                     /gene_synonym="bA536D16.1; bA778P13.1; C9orf93"
                     /coded_by="XM_005251397.3:188..4192"
                     /db_xref="GeneID:203238"
                     /db_xref="HGNC:HGNC:29828"
ORIGIN      
        1 mnlntssntg dtqrlkiasl dvkqilknet elditdnlrk klhwakkekl eittkhnael
       61 asyesqiakl rsevekgeal rqsleydlav arkeaglgrr aaeerlaeah riqeklcaqn
      121 selqaktnet ekafqtsqqk wkeecrrfeh dleerdnmiq ncnreydllm keksrlektl
      181 qealekhqre knemeshire taleefrlqe eqweaerrel qfivqeqdta vqnmhkkvek
      241 letehmdcsd llrrqtsele fstqreerlr kefeattlrv rkleenieae raahleskfn
      301 seiiqlrird legalqveka sqaeavadle iiknefkeve sayerekhna qesfaklnll
      361 ekeyfsknkk lnedieeqkk viidlskrlq ynekscselq eelvmakkhq aflvetcenn
      421 vkelesilds ftvsgqwtsg ihkdkdkpps fsvvlerlrr tltdyqnkle dasnelnsmn
      481 dvkekacnel dstkqkidsh tknikelqdk ladvnkelsh lhtkcadrea listlkvelq
      541 nvlhcwekek aqaaqsesel qklsqafhkd aeekltflht lyqhlvagcv likqpegmld
      601 kfswselcav lqenvdalia dlnranekir hleyicknks dtmrelqqtq edtftkvaeq
      661 ikaqescwhr qkkelelqys elflevqkra qkfqeiaekn meklnhieks heqlvlensh
      721 fkkllsqtqr eqmsllaaca lmagalyply srscalstqr dflqeqvntf elfkleirtl
      781 aqalstveek kqeeakmkkk tfkglirifr kgviavlaan rlkilgqsca slftwmesfk
      841 egigmlvctg epqdkhkfpk hqkeqlrclq alswltssdl laaiissmae lqdvigkadp
      901 nsricghlli gaaknsfakl mdkislvmec iplhssrsit yvekdslvqr lahglhkvnt
      961 lalkyglrgh vpitkstasl qkqilgftqr lhaaeverrs lrlevtefkr svnemkkeld
     1021 kaqglqmqln efkqsklith ekfesaceel nnallreeqa qmllneqaqq lqelnyklel
     1081 hsseeadknq tlgeavksls eakmelrrkd qslrqlnrhl tqleqdkrrl eenihdaesa
     1141 lrmaakdkec vanhmraven tlhkvrdqis lswsaasrnd ftlqlpklhl etfameglkg
     1201 gpevvacqam iksfmdvyql astrimtlek emtshrshia alkselhtac lrenaslqsi
     1261 gsrdhsnlsi psraplpadt tgigdflplk aeldttytfl ketfintvph altsshsspv
     1321 tmsananrpt qigl
//
LOCUS       XP_047278946             384 aa            linear   PRI 20-MAR-2023
DEFINITION  ribitol-5-phosphate transferase FKTN isoform X10 [Homo sapiens].
ACCESSION   XP_047278946
VERSION     XP_047278946.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422990.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..384
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..384
                     /product="ribitol-5-phosphate transferase FKTN isoform
                     X10"
                     /calculated_mol_wt=44619
     Region          1..261
                     /region_name="FKTN_N"
                     /note="Fukutin N-terminal; pfam19737"
                     /db_xref="CDD:437569"
     CDS             1..384
                     /gene="FKTN"
                     /gene_synonym="CMD1X; FCMD; LGMD2M; LGMDR13; MDDGA4;
                     MDDGB4; MDDGC4"
                     /coded_by="XM_047422990.1:125..1279"
                     /db_xref="GeneID:2218"
                     /db_xref="HGNC:HGNC:3622"
                     /db_xref="MIM:607440"
ORIGIN      
        1 msrinknvvl alltltssaf llfqlyyykh ylstkngagl skskgsrigf dstqwravkk
       61 fimltsnqnv pvflidplil elinknfeqv kntshgstsq ckffcvprdf tafalqyhlw
      121 kneegwfria enmgfqclki eskdprldgi dslsgteipl hyicklatha ihlvvfhers
      181 gnylwhghlr lkehidrkfv pfrklqfgry pgafdrpelq qvtvdglevl ipkdpmhfve
      241 evphsrfiec rykearaffq vedslelsfq gkddvkldvf ffyeetdhmw nggtqaktgk
      301 kfkyesnkyl fikhpnlpvi kvmniitmpp ecevlnstsh flkmlprfiw fasflpilnq
      361 lvwvearslk dtcfrslhca glsl
//
LOCUS       XP_006724697            1526 aa            linear   PRI 20-MAR-2023
DEFINITION  nik-related protein kinase isoform X4 [Homo sapiens].
ACCESSION   XP_006724697
VERSION     XP_006724697.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006724634.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1526
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1526
                     /product="nik-related protein kinase isoform X4"
                     /calculated_mol_wt=171926
     Region          18..313
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:451246"
     Site            order(31..34,37,39,52,54,107,129..132,177,181..182,184,
                     194..195)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     Region          <386..>537
                     /region_name="PRK10927"
                     /note="cell division protein FtsN"
                     /db_xref="CDD:236797"
     Region          1218..1492
                     /region_name="CNH"
                     /note="CNH domain; pfam00780"
                     /db_xref="CDD:425867"
     CDS             1..1526
                     /gene="NRK"
                     /gene_synonym="NESK"
                     /coded_by="XM_006724634.5:308..4888"
                     /db_xref="GeneID:203447"
                     /db_xref="HGNC:HGNC:25391"
                     /db_xref="MIM:300791"
ORIGIN      
        1 magpggwrdr evtdlghlpd ptgifsldkt iglgtygriy lglhektgaf tavkvmnark
       61 tplpeigrrv rvnkyqksvg wrysdeeedl rtelnllrky sfhknivsfy gaffklsppg
      121 qrhqlwmvme lcaagsvtdv vrmtsnqslk edwiayicre ilqglahlha hrvihrdikg
      181 qnvllthnae vklvdfgvsa qvsrtngrrn sfigtpywma pevidcdedp rrsydyrsdv
      241 wsvgitaiem aegapplcnl qplealfvil resaptvkss gwsrkfhnfm ekctiknflf
      301 rptsanmlqh pfvrdikner hvvesltrhl tgiikkrqkk gipliferee aikeqytvrr
      361 frgpscthel lrlptssrcr plrvlhgeps qprwlpdree pqvqalqqlq gaarvfmplq
      421 aldsapkplk gqaqapqrlq gaarvfmplq aqvkakaskp lqmqikappr lrraarvlmp
      481 lqaqvraprl lqvqsqvskk qqaqtqtsep qdldqvpeef qgqdqvpeqq rqgqapeqqq
      541 rhnqvpeqel eqnqapeqpe vqeqaaepaq aeteaeepes lrvnaqvflp llsqdhhvll
      601 plhldtqvli pvegqtegsp qaqawtlepp qaigsvqali eglsrdllra pnsnnskplg
      661 plqtlmenls snrfysqpeq arekkskvst lrqalakrls pkrfrakssw rpeklelsdl
      721 earrqrrqrr wedifnqhee elrqvdkdke dessdndevf hsiqaevqie plkpyisnpk
      781 kievqersps vpnnqdhahh vkfsssvpqr slleqaqkpi dirqrssqnr qnwlaasess
      841 seeespvtgr rsqssppyst idqkllvdih vpdgfkvgki sppvyltnew vgynalseif
      901 rndwltpapv iqppeedgdy velydasadt dgddddesnd tfedtydhan gnddldnqvd
      961 qandvckdhd ddnnkfvddv nnnyyeapsc prasygrdgs ckqdgydgsr gkeeayrgyg
     1021 shtanrshgg saasednaai gdqeehaani gserrgsegd ggkgvvrtse esgalglnge
     1081 encsetdgpg lkrpasqdfe ylqeepgggn easnaidsga apsapdhesd nkdisesstq
     1141 sdfsanhssp skgsgmsada nfasailyag fvevpeespk qpsevnvnpl yvspackkpl
     1201 ihmyekefts eiccgslwgv nlllgtrsnl ylmdrsgkad itklirrrpf rqiqvlepln
     1261 llitisghkn rlrvyhltwl rnkilnndpe skrrqeemlk teeackaidk ltgcehfsvl
     1321 qheettyiai alkssihlya wapksfdest aikvfptldh kpvtvdlaig sekrlkiffs
     1381 sadgyhlida esevmsdvtl pknniiilpd clgigmmltf naealsvean eqlfkkilem
     1441 wkdipssiaf ectqrttgwg qkaievrslq srvleselkr rsikklrflc trgdklffts
     1501 tlrnhhsrvy fmtlgkleel qsnydv
//
LOCUS       XP_016884969             836 aa            linear   PRI 20-MAR-2023
DEFINITION  probable ribonuclease ZC3H12B isoform X1 [Homo sapiens].
ACCESSION   XP_016884969
VERSION     XP_016884969.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029480.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..836
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..836
                     /product="probable ribonuclease ZC3H12B isoform X1"
                     /calculated_mol_wt=94075
     Region          108..149
                     /region_name="UBA_6"
                     /note="UBA-like domain; pfam18039"
                     /db_xref="CDD:407876"
     Region          193..323
                     /region_name="PIN_Zc3h12-like"
                     /note="PRORP-like PIN domain of ribonuclease Zc3h12a and
                     related proteins; cd18729"
                     /db_xref="CDD:350296"
     Region          360..378
                     /region_name="zf-CCCH_2"
                     /note="RNA-binding, Nab2-type zinc finger; pfam14608"
                     /db_xref="CDD:434069"
     Region          796..830
                     /region_name="Regnase_1_C"
                     /note="Endoribonuclease Regnase 1/ ZC3H12 C-terminal
                     domain; pfam18561"
                     /db_xref="CDD:436579"
     CDS             1..836
                     /gene="ZC3H12B"
                     /gene_synonym="CXorf32; MCPIP2"
                     /coded_by="XM_017029480.2:4328..6838"
                     /db_xref="GeneID:340554"
                     /db_xref="HGNC:HGNC:17407"
                     /db_xref="MIM:300889"
ORIGIN      
        1 mtataevetp kmeksaskee kqqpkqdste qgnadseewm ssesdpeqis lkssdnsksc
       61 qprdgqlkkk emhskphrql crspcldrps fsqssilqdg kldlekeyqa kmefalklgy
      121 aeeqiqsvln klgpeslind vlaelvrlgn kgdsegqinl sllvprgpss reiaspelsl
      181 edeidnsdnl rpvvidgsnv amshgnkeef scrgiqlavd wfldkghkdi tvfvpawrke
      241 qsrpdapitd qdilrkleke kilvftpsrr vqgrrvvcyd drfivklafd sdgiivsndn
      301 yrdlqvekpe wkkfieerll mysfvndkfm ppddplgrhg pslenflrkr pivpehkkqp
      361 cpygkkctyg hkckyyhper anqpqrsvad elrisaklst vktmsegtla kcgtgmssak
      421 geitsevkrv apkrqsdpsi rsvamepeew lsiarkpeas svpslvtals vptipppksh
      481 avgalntrsa sspvpgsshf phqkaslehm asmqyppilv tnshgtpisy aeqypkfesm
      541 gdhgyysmlg dfsklninsm hnreyymaev drgvyarnpn lcsdsrvsht rndnyssynn
      601 vylavadthp egnlklhrsa sqnrlqpfph gyhealtrvq sygpedskqg phkqsvphla
      661 lhaqhpstgt rsscpadypm ppnihpgatp qpgralvmtr mdsisdsrly esnpvrqrrp
      721 plcreqhasw dplpcttdsy gyhsyplsns lmqpcyepvm vrsvpekmeq lwrnpwvgmc
      781 ndsrehmipe hqyqtyknlc nifpsnivla vmeknphtad aqqlaaliva klraar
//
LOCUS       XP_016885403            1404 aa            linear   PRI 20-MAR-2023
DEFINITION  G2/mitotic-specific cyclin-B3 isoform X1 [Homo sapiens].
ACCESSION   XP_016885403
VERSION     XP_016885403.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017029914.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000023.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1404
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
     Protein         1..1404
                     /product="G2/mitotic-specific cyclin-B3 isoform X1"
                     /calculated_mol_wt=158810
     Region          1116..1264
                     /region_name="CYCLIN_CCNB3_rpt1"
                     /note="first cyclin box found in G2/mitotic-specific
                     cyclin-B3 (CCNB3) and similar proteins; cd20508"
                     /db_xref="CDD:410212"
     Site            order(1221..1222,1225,1233..1234,1251,1254..1255)
                     /site_type="other"
                     /note="putative CDK interface [polypeptide binding]"
                     /db_xref="CDD:410212"
     Region          1268..1382
                     /region_name="CYCLIN_SF"
                     /note="Cyclin box fold superfamily; cl40454"
                     /db_xref="CDD:454757"
     CDS             1..1404
                     /gene="CCNB3"
                     /gene_synonym="CYCB3"
                     /coded_by="XM_017029914.2:232..4446"
                     /db_xref="GeneID:85417"
                     /db_xref="HGNC:HGNC:18709"
                     /db_xref="MIM:300456"
ORIGIN      
        1 mllplppqss kpvpkksqss kivpshhdps ektgencqtk ispsslqesp sslqgalkkr
       61 safedltnas qcqpvqpkke ankefvkvvs kkinrnthal glakknkrnl kwhklevtpv
      121 vasttvvpni mekplildis ttsktpntee aslfrkplvl keeptiedet linkslslkk
      181 csnheevsll eklqplqees dsddafviep mtfkkthkte eaaitkktls lkkkmcasqr
      241 kqscqeesla vqdvnmeeds ffmesmsfkk kpkteesipt hklsslkkkc tiygkichfr
      301 kppvlqttic gamssikkpt teketlfqel svlqekhtte hemsilkksl alqktnfked
      361 slvkeslafk kkpsteeaim mpvilkeqcm tegkrsrlkp lvlqeitsge kslimkplsi
      421 kekpstekes fsqepsalqk khttqeevsi lkepssllks pteespfdea laftkkctie
      481 eapptkkpli lkrkhatqgt mshlkkplil qttsgeksli keplpfkeek vslkkkcttq
      541 emmsicpell dfqdmigedk nsffmepmsf rknptteetv ltktslslqe kkitqgkmsh
      601 lkkplvlqki tseeesfykk llpfkmkstt eekflsqeps alkekhttlq evslskesla
      661 iqekatteee fsqelfslhv khtnksgslf qealvlqekt daeedslknl lalqekstme
      721 eeslinklla lkeelsaeaa tniqtqlslk kkstshgkvf flkkqlalne tineeeflnk
      781 qplalegyps iaegetlfkk llamqeepsi ekeavlkept idteahfkep lalqeepste
      841 keavlkepsv dteahfketl alqekpsieq ealfkrhsal wekpsteket ifkesldlqe
      901 kpsikketll kkplalkmst ineavlfedm ialnekpttg kelsfkepla lqesptyked
      961 tflktllvpq vgtspnvsst apesitskss iatmtsvgks gtineaflfe dmitlnekpt
     1021 tgkelsfkep lalqesptck edtfletfli pqigtspyvf sttpesitek ssiatmtsvg
     1081 ksrtttessa cesasdkpvs pqakgtpkeq itpredided ssdpsfnpmy akeifsymke
     1141 reieetaqsh eqfiltdymn rqieitsdmr ailvdwlvev qvsfemthet lylavklvdl
     1201 ylmkavckkd klqllgataf miaakfeehn sprvddfvyi cddnyqrsev lsmeinilnv
     1261 lkcdinipia yhflrryarc ihtnmktltl sryicemtlq eyhyvqekas klaaasllla
     1321 lymkklgywv pflehysgys iselhplvrq lnklltfssy dslkavyyky shpvffevak
     1381 ipaldmlkle eilncdceaq glvl
//
LOCUS       XP_054185817             496 aa            linear   PRI 20-MAR-2023
DEFINITION  ral guanine nucleotide dissociation stimulator-like 2 isoform X9
            [Homo sapiens].
ACCESSION   XP_054185817
VERSION     XP_054185817.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329842.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_113891.3) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..496
                     /product="ral guanine nucleotide dissociation
                     stimulator-like 2 isoform X9"
                     /calculated_mol_wt=54005
     CDS             1..496
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /coded_by="XM_054329842.1:221..1711"
                     /db_xref="GeneID:5863"
                     /db_xref="HGNC:HGNC:9769"
                     /db_xref="MIM:602306"
ORIGIN      
        1 mppprssrrl ragtlealvr hlldtrtsgt dvsfmsafla thraftstpa llglmadrle
       61 aleshptdel erttevaisv lstwlashpe dfgseakgql drlesfllqt gyaagkgvgg
      121 gsadlirnlr srvdpqapdl pkplalpgdp padptdvlvf ladhlaeqlt lldaelflnl
      181 ipsqclgglw ghrdrpghsh lcpsvratvt qfnkvagavv ssvlgatstg egpgevtirp
      241 lrppqrarll ekwirvaeec rllrnfssvy avvsalqssp ihrlraawge atrdslrvfs
      301 slcqifseed nysqsrellv qevklqsple phskkaprsg srgggvvpyl gtflkdlvml
      361 daaskdelen gyinfdkrrk efavlselrr lqnecrgynl qpdhdiqrwl qglrplteaq
      421 shrvscevep pgssdppapr vlrptlvisq wtevlgsvgv ptplvscdrp stggdeaptt
      481 paplltrlaq shvvcs
//
LOCUS       XP_054185890             262 aa            linear   PRI 20-MAR-2023
DEFINITION  megakaryocyte and platelet inhibitory receptor G6b isoform X2 [Homo
            sapiens].
ACCESSION   XP_054185890
VERSION     XP_054185890.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054329915.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_113891.3) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..262
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..262
                     /product="megakaryocyte and platelet inhibitory receptor
                     G6b isoform X2"
                     /calculated_mol_wt=27886
     CDS             1..262
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /coded_by="XM_054329915.1:376..1164"
                     /db_xref="GeneID:80739"
                     /db_xref="HGNC:HGNC:13937"
                     /db_xref="MIM:606520"
ORIGIN      
        1 mervdteggt psfllqliqg lgrqdlvtqg prveepasld grpgdrvnls cggvshpirw
       61 vwapsfpack glskgrrpil wasssgtptv pplqpfvgrl rsldsgirrl elllsagdsg
      121 tffckgrhed esrtvlhvlg drtyckapgp thgacprnrf dhsldlvrli pphflsptcp
      181 lptpqflsls pcweqtrwsp slhpsalspp hsstcenrap easkggraqd srgpgpgtep
      241 alcgsgpssp qqappavhsg pc
//
LOCUS       XP_054186788             370 aa            linear   PRI 20-MAR-2023
DEFINITION  major histocompatibility complex, class II, DR beta 4 isoform X5
            [Homo sapiens].
ACCESSION   XP_054186788
VERSION     XP_054186788.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054330813.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NT_167247.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..370
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1-21.32"
     Protein         1..370
                     /product="major histocompatibility complex, class II, DR
                     beta 4 isoform X5"
                     /calculated_mol_wt=42221
     CDS             1..370
                     /gene="HLA-DRB4"
                     /gene_synonym="DR4; DRB4; HLA-DR4B; HLA-DRB; HLA-DRB4*"
                     /coded_by="XM_054330813.1:317..1429"
                     /db_xref="GeneID:3126"
                     /db_xref="HGNC:HGNC:4952"
ORIGIN      
        1 msdkrrfllk ilwesrefkg sllddpvlcp pqdlwcwplf licedgssgl piisflffln
       61 snvykactpv ayvgsltkvi lsalsflwgk irgteaeifs twshltdieh lcgihwclkn
      121 frhplenrpr gsadqaqarf leqakcechf lngtervwnl iryiynqeey arynsdlgey
      181 qavtelgrpd aeywnsqkdl lerrraevdt ycrynygvve sftvqrrvqp kvtvypsktq
      241 plqhhnllvc svngfypgsi evrwfrngqe ekagvvstgl iqngdwtfqt lvmletvprs
      301 gevytcqveh psmmspltvq wsarsesaqs kmlsgvggfv lgllflgtgl fiyfrnqkgh
      361 sglqptglls
//
LOCUS       XP_047299225             169 aa            linear   PRI 20-MAR-2023
DEFINITION  FAM231A/C-like protein LOC102723383 [Homo sapiens].
ACCESSION   XP_047299225
VERSION     XP_047299225.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443269.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791756) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..169
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     Protein         1..169
                     /product="FAM231A/C-like protein LOC102723383"
                     /calculated_mol_wt=18040
     Region          1..169
                     /region_name="DUF4741"
                     /note="Domain of unknown function (DUF4741); pfam15897"
                     /db_xref="CDD:406349"
     CDS             1..169
                     /gene="LOC124905566"
                     /coded_by="XM_047443269.1:62..571"
                     /db_xref="GeneID:124905566"
ORIGIN      
        1 mgcskglwke rpsahtsecf sttacpvafi llvwnsqtpa glqslctgrh pslsaraqra
       61 gpgasreegt fwtervgqer wlirsgssqn esqedqgasl isqaglkadn rresstwane
      121 vedrrpqctp alnltpshph pphslttflr svigiqippg lvaaggtva
//
LOCUS       XP_054188908            1881 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 36A isoform X12 [Homo
            sapiens].
ACCESSION   XP_054188908
VERSION     XP_054188908.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054332933.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791765) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1881
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     Protein         1..1881
                     /product="ankyrin repeat domain-containing protein 36A
                     isoform X12"
                     /calculated_mol_wt=210623
     CDS             1..1881
                     /gene="ANKRD36"
                     /gene_synonym="UNQ2430"
                     /coded_by="XM_054332933.1:588..6233"
                     /db_xref="GeneID:375248"
                     /db_xref="HGNC:HGNC:24079"
                     /db_xref="MIM:620262"
ORIGIN      
        1 medgkrerwp tlmerlcsdg fafpqypikp yhlkrihrav lhgnleklky llltyydank
       61 rdrkertalh lacatgqpem vhllvsrrce lnlcdredrt plikavqlrq eacatlllqn
      121 ganpnitdff grtalhyavy nedtsmiekl lshgtnieec skceyqpllf avsrrkvkmv
      181 efllkkkanv naidylgrsa lihavtlgek divilllqhn idvlsrdafr kiagdyaiea
      241 knrvifdliy eyerkryedl pinsnpvssq kqpalkatsg kedsisniat eikdgqksgt
      301 vssqkqpalk dtsdkddsvs ntateikdeq ksgtvlpave qclnrslyrp davaqpvten
      361 efsleseiis klyipkrkii sprsikdvlp pveeavdrcl ylldrfaqpv tkdkfalese
      421 nisepyftnr rtisqqsaen ldaacgidkt engnmfedqn vdkegkalpa tgqkanvspe
      481 qpplfthtvk drdhistrfl ggmdsltsse esserpplst ltlkeadpss kaamrrkdsp
      541 ppgkvssqkq paekatsddk dsvsniatei kegpisgtvs sqkqpaekat sdekdsvsni
      601 ateikkgqqs gtvspqkqsa wkvifkkkvs llniatrimg ggksgtvssq kqpaskatsd
      661 ktdsalniat eikdglqcgt vssqkqpalk attdeedsvs niateikdge ksgtvssqkq
      721 palkattdee dsvsniatei kdgeksgtvs sqkqpalkat tdekdsvsni ateikdgeks
      781 gtvssqkppa ltatsdeegs vlsiarenkd geksrtvssq kpptlkgtsd eedsvlgiar
      841 enkdgeksrt vssekppglk assaekdsvl niargkkdge ktkrvssrkk psleatsdek
      901 dsfsnitrek kdgeisrkvs sqkppalkgt sdeedsvlgi arenkdgeks rtvssekppg
      961 lkatsdekds vlniargkkd gektrtvssq kpptlkatsd eedsvlsiar enkdgeksrt
     1021 vssekpsglk atsaekdsvl niargkkyge ktkrvssrkk palkatsdek dsvlyiarek
     1081 kdgeksrtvs spkqpalkai cdkedsvpnm atekkdeqis gtvscqkqpa lkatsdkkds
     1141 vsnipteikd gqqsgtvssq kqpawkatsv kkdsvsniat eikdgqirgt vspqkqsaqk
     1201 vifkkkvsll niatritggw ksgteypenl ptlkatienk nsvlntatkm kdvqtstpae
     1261 qdlemasege qkrleeyenn qpqvknqihs rddlddiiqs sqtvsedgds lccncknvil
     1321 lidqhemkck dcvhllkikn tfclwkrlik lkdnhceqlr vkirklknka svlqkrisek
     1381 eeiksqlkhe ilelekelcs lrfaiqqekk krrnveevhq kvreklrite eqyrieadvt
     1441 kpikpalksa evelktggnn snqvsetdek edllhenrlm qdeiarlrle kdtiknqnle
     1501 kkylkdfeiv krkhedlqka lkrngetlak tiacysgqla altdenttlr sklekqresr
     1561 qrletemqsy hcrlnaarcd hdqshsskrd qelafqgtvd kcrhlqenln shvlilslql
     1621 skaesksrvl ktelhytgea lkekalvfeh vqselkqkqs qmkdiekmyk sgyntmekci
     1681 ekqerfcqlk kqnmllqqql ddarnkadnq ekailniqar cdarvqnlqa ecrkhrllle
     1741 ednkmlvnel nhskekecqy ekekaereva vrqlqqkrdd vlnkgsatka lldassrhct
     1801 ylengmqdsr kkldqmrsqf qeiqdqltat irctkemegd tqklevehvm mrkiikkqdd
     1861 qierlekilq hsslmlqvfe s
//
LOCUS       XP_054190270             497 aa            linear   PRI 20-MAR-2023
DEFINITION  choline transporter-like protein 3 isoform X13 [Homo sapiens].
ACCESSION   XP_054190270
VERSION     XP_054190270.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334295.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..497
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..497
                     /product="choline transporter-like protein 3 isoform X13"
                     /calculated_mol_wt=56079
     CDS             1..497
                     /gene="SLC44A3"
                     /gene_synonym="CTL3"
                     /coded_by="XM_054334295.1:96..1589"
                     /db_xref="GeneID:126969"
                     /db_xref="HGNC:HGNC:28689"
ORIGIN      
        1 mhclgaeylv saegaprqre wrpqiyrkct dtawlflffl fwtglvfimg ysvvagaagr
       61 llfgydsfgn mcgkknspve gaplsgqdmt lkkhvffmns cnlevkgtql nrmalcvsnc
      121 peeqldslee vqffantsgs flcvyslnsf nythspkads lcprlpvpps ksfplfnrcv
      181 pqtpecyslf asvlindvdt lhrilsgims grdtilglci lalalslamm ftfrfittll
      241 vhifislvil gllfvcgvlw wlyydytndl sieldteren mkcvlgfaiv stgitavllv
      301 lifvlrkrik ltvelfqitn kaissapfll fqplwtfail iffwvlwvav llslgtagaa
      361 qvmeggqvey kplsgirymw syhligliwt sefilacqqm tiagavvtcy fnrskndppd
      421 hpilsslsil ffyhqgtivk gsflisvvri priivmymqn alkeqhgals rylfrccycc
      481 fwcldkyllh lnqdpsp
//
LOCUS       XP_054190561             656 aa            linear   PRI 20-MAR-2023
DEFINITION  neuroblastoma breakpoint family member 4 isoform X5 [Homo sapiens].
ACCESSION   XP_054190561
VERSION     XP_054190561.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334586.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..656
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..656
                     /product="neuroblastoma breakpoint family member 4 isoform
                     X5"
                     /calculated_mol_wt=73768
     CDS             1..656
                     /gene="NBPF4"
                     /coded_by="XM_054334586.1:4705..6675"
                     /db_xref="GeneID:148545"
                     /db_xref="HGNC:HGNC:26550"
                     /db_xref="MIM:613994"
ORIGIN      
        1 mvqqdevpgs tssatnvsmv vsadplsser aemnileinq elrsqlaesn qqfrdlkekf
       61 litqataysl anqlkkykce eykdiidsvl rdelqsmekl aeklrqaeel rqykalvhsq
      121 akeltqlrek lregrdasrw lnkhlktllt pddpdksqgq dlreqlaegh rlaehlvhkl
      181 spendedede deddkdeeve kvqespapre vqkteekevp qdsleecavt csnshnpsns
      241 nqphrstkit fkehevdsal vvesehphde eeealnippe nqndheeeeg kapvpprhhd
      301 ksnsyrhrev sflaldeqkv csaqdvardy snpkwdetsl gflekqndle evkgqetvap
      361 rlsrgplrvd kheipqesld gccltpsilp dltpsyhpyw stlysfedkq vslalvdkik
      421 kdqeeiedqs ppcprlsqel pevkeqevpe dsvnevyltp svhhdvsdch qpysstlssl
      481 edqlacsald vaspteaacp qgtwsgdlsh hqsevqvsqa qlepstlvps clrlqldqgf
      541 hcgnglaqrg lssttcsfsa nadsgnqwpf qelvlepslg mknppqledd alegsasntq
      601 grqvtgrira slvlilktir rrlpfskwrl afrfagphae saeipntagr tqrmag
//
LOCUS       XP_054190906             182 aa            linear   PRI 20-MAR-2023
DEFINITION  nucleoside diphosphate-linked moiety X motif 17 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054190906
VERSION     XP_054190906.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334931.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..182
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..182
                     /product="nucleoside diphosphate-linked moiety X motif 17
                     isoform X3"
                     /calculated_mol_wt=19238
     CDS             1..182
                     /gene="NUDT17"
                     /coded_by="XM_054334931.1:12..560"
                     /db_xref="GeneID:200035"
                     /db_xref="HGNC:HGNC:26618"
ORIGIN      
        1 maevrvqlll srrpesvsfa rsvcgllgag pglgtwpihc slkrgrlvls srpfpgasar
       61 lplqrppfcp faaleerprv pgaelptdrg vdlgvavilq ssdktvlltr rartlsvspn
      121 lwvppaagrr asrtlggewt tpapgpvllg psgfmggets swekllhrsa ptclgykgnn
      181 st
//
LOCUS       XP_054191724             501 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor subfamily 5 group A member 2 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054191724
VERSION     XP_054191724.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335749.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..501
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..501
                     /product="nuclear receptor subfamily 5 group A member 2
                     isoform X3"
                     /calculated_mol_wt=57080
     CDS             1..501
                     /gene="NR5A2"
                     /gene_synonym="B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta;
                     hB1F-2; LRH-1; LRH1"
                     /coded_by="XM_054335749.1:287..1792"
                     /db_xref="GeneID:2494"
                     /db_xref="HGNC:HGNC:7984"
                     /db_xref="MIM:604453"
ORIGIN      
        1 mlpkveteal glarshgeqg qmpenmqvsq fkmvnysyde dleelcpvcg dkvsgyhygl
       61 ltcesckgff krtvqnnkry tcienqncqi dktqrkrcpy crfqkclsvg mkleavradr
      121 mrggrnkfgp mykrdralkq qkkalirang lkleamsqvi qampsdltis saiqnihsas
      181 kglplnhaal pptdydrspf vtspismtmp phgslqgyqt yghfpsraik seypdpytss
      241 pesimgysym dsyqtsspas iphlilellk cepdepqvqa kimaylqqeq anrskhekls
      301 tfglmckmad qtlfsivewa rssiffrelk vddqmkllqn cwsellildh iyrqvvhgke
      361 gsiflvtgqq vdysiiasqa gatlnnlmsh aqelvaklrs lqfdqrefvc lkflvlfsld
      421 vknlenfqlv egvqeqvnaa lldytmcnyp qqtekfgqll lrlpeirais mqaeeylyyk
      481 hlngdvpynn lliemlhakr a
//
LOCUS       XP_054191933             539 aa            linear   PRI 20-MAR-2023
DEFINITION  adenylate kinase isoenzyme 5 isoform X1 [Homo sapiens].
ACCESSION   XP_054191933
VERSION     XP_054191933.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335958.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..539
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..539
                     /product="adenylate kinase isoenzyme 5 isoform X1"
                     /calculated_mol_wt=60356
     CDS             1..539
                     /gene="AK5"
                     /gene_synonym="AK6"
                     /coded_by="XM_054335958.1:296..1915"
                     /db_xref="GeneID:26289"
                     /db_xref="HGNC:HGNC:365"
                     /db_xref="MIM:608009"
ORIGIN      
        1 mntndakeyl arreipqlfe sllnglmcsk pedpveyles clqkvkelgg cdkvkwdtfv
       61 sqekktlppl nggqsrrsfl rnesdtdlse taelieeyev fdptrprpki ilviggpgsg
      121 kgtqslkiae rygfqyisvg ellrkkihst ssnrkwslia kiittgelap qettiteikq
      181 klmqipdeeg ividgfprdv aqalsfedqi ctpdlvvfla canqrlkerl lkraeqqgrp
      241 ddnvkatqrr lmnfkqnaap lvkyfqekgl imtfdadrde devfydisma vdnklfpnke
      301 aaagssdldp smildtgeii dtgsdyedqg ddqlnvfged tmggfmedlr kckiifiigg
      361 pgsgkgtqce klvekygfth lstgellree laseserskl irdimergdl vpsgivlell
      421 keamvaslgd trgflidgyp revkqgeefg rrigdpqlvi cmdcsadtmt nrllqrsrss
      481 lpvddttkti akrleayyra sipviayyet ktqlhkinae gtpedvflql ctaidsiif
//
LOCUS       XP_054194092              98 aa            linear   PRI 20-MAR-2023
DEFINITION  protein S100-A13 isoform X2 [Homo sapiens].
ACCESSION   XP_054194092
VERSION     XP_054194092.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338117.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..98
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..98
                     /product="protein S100-A13 isoform X2"
                     /calculated_mol_wt=11340
     CDS             1..98
                     /gene="S100A13"
                     /coded_by="XM_054338117.1:983..1279"
                     /db_xref="GeneID:6284"
                     /db_xref="HGNC:HGNC:10490"
                     /db_xref="MIM:601989"
ORIGIN      
        1 maaepltele esietvvttf ftfarqegrk dslsvnefke lvtqqlphll kdvgsldekm
       61 ksldvnqdse lkfneywrli gelakeirkk kdlkirkk
//
LOCUS       XP_054194127             768 aa            linear   PRI 20-MAR-2023
DEFINITION  P-selectin isoform X3 [Homo sapiens].
ACCESSION   XP_054194127
VERSION     XP_054194127.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054338152.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..768
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..768
                     /product="P-selectin isoform X3"
                     /calculated_mol_wt=83905
     CDS             1..768
                     /gene="SELP"
                     /gene_synonym="CD62; CD62P; GMP140; GRMP; LECAM3; PADGEM;
                     PSEL"
                     /coded_by="XM_054338152.1:51..2357"
                     /db_xref="GeneID:6403"
                     /db_xref="HGNC:HGNC:10721"
                     /db_xref="MIM:173610"
ORIGIN      
        1 mancqiaily qrfqrvvfgi sqllcfsali seltnqkeva awtyhystka yswnisrkyc
       61 qnrytdlvai qnkneidyln kvlpyyssyy wigirknnkt wtwvgtkkal tneaenwadn
      121 epnnkrnned cveiyiksps apgkwndehc lkkkhalcyt ascqdmscsk qgecletign
      181 ytcscypgfy gpeceyvrec gelelpqhvl mncshplgnf sfnsqcsfhc tdgyqvngps
      241 kleclasgiw tnkppqclaa qcpplkiper gnmtclhsak afqhqsscsf sceegfalvg
      301 pevvqctasg vwtapapvck aisceplesp vhgsmdcsps lrafqydtnc sfrcaegfml
      361 rgadivrcdn lgqwtapapv cqalqcqdlp vpnearvncs hpfgafryqs vcsftcnegl
      421 llvgasvlqc latgnwnsvp pecqaipctp llspqngtmt cvqplgsssy kstcqficde
      481 gyslsgperl dctrsgrwtd sppmceaikc pelfapeqgs ldcsdtrgef nvgstchfsc
      541 nngfklegpn nvecttsgrw satpptckgi aslptpgvqc palttpgqgt mycrhhpgtf
      601 gfnttcyfgc nagftligds tlscrpsgqw tavtpacrav kcselhvnkp iamncsnlwg
      661 nfsygsicsf hclegqllng saqtacqeng hwsttvptcq agpltiqeal tyfggavast
      721 iglimggtll allrkrfrqk ddgkcplnph shlgtygvft naafdpsp
//
LOCUS       XP_054195046             394 aa            linear   PRI 20-MAR-2023
DEFINITION  HORMA domain-containing protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054195046
VERSION     XP_054195046.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339071.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..394
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..394
                     /product="HORMA domain-containing protein 1 isoform X1"
                     /calculated_mol_wt=45082
     CDS             1..394
                     /gene="HORMAD1"
                     /gene_synonym="CT46; NOHMA"
                     /coded_by="XM_054339071.1:187..1371"
                     /db_xref="GeneID:84072"
                     /db_xref="HGNC:HGNC:25245"
                     /db_xref="MIM:609824"
ORIGIN      
        1 mataqlqrtp msalvfpnki stehqslvlv krllavsvsc itylrgifpe caygtryldd
       61 lcvkilredk ncpgstqlvk wmlgcydalq kkylrmvvla vytnpedpqt isecyqfkfk
      121 ytnngplmdf isknqsness mlstdtkkas illirkiyil mqnlgplpnd vcltmklfyy
      181 devtppdyqp pgfkdgdceg vifegepmyl nvgevstpfh ifkvkvtter ermenidsti
      241 lspkqiktpf qkilrdkdve deqehyisdd ldietkmeeq eknpassele epslvceede
      301 imrskespdl sishsqveql vnktseldms esktrsgkvf qnkmangnqp vksskenrkr
      361 sqhesgrivl hhfdsssqes vpkrrkfsep kehi
//
LOCUS       XP_054195222            1781 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase MRCK alpha isoform X8 [Homo
            sapiens].
ACCESSION   XP_054195222
VERSION     XP_054195222.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339247.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1781
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1781
                     /product="serine/threonine-protein kinase MRCK alpha
                     isoform X8"
                     /calculated_mol_wt=202682
     CDS             1..1781
                     /gene="CDC42BPA"
                     /gene_synonym="MRCK; MRCKA; PK428"
                     /coded_by="XM_054339247.1:1313..6658"
                     /db_xref="GeneID:8476"
                     /db_xref="HGNC:HGNC:1737"
                     /db_xref="MIM:603412"
ORIGIN      
        1 msgevrlrql eqfildgpaq tngqcfsvet lldiliclyd ecnnsplrre knileylewa
       61 kpftskvkqm rlhredfeil kvigrgafge vavvklknad kvfamkilnk wemlkraeta
      121 cfreerdvlv ngdnkwittl hyafqddnnl ylvmdyyvgg dlltllskfe drlpedmarf
      181 ylaemviaid svhqlhyvhr dikpdnilmd mnghirladf gsclklmedg tvqssvavgt
      241 pdyispeilq amedgkgryg pecdwwslgv cmyemlyget pfyaeslvet ygkimnhker
      301 fqfpaqvtdv senakdlirr licsrehrlg qngiedfkkh pffsgidwdn irnceapyip
      361 evssptdtsn fdvdddclkn setmppptht afsghhlpfv gftytsscvl sdrsclrvta
      421 gptsldldvn vqrtldnnla teayerrikr leqeklelsr klqestqtvq alqystvdgp
      481 ltaskdleik nlkeeieklr kqvtesshle qqleeanavr qelddafrqi kayekqiktl
      541 qqeredlnke lvqaserlkn qskelkdahc qrklamqefm einerltelh tqkqklarhv
      601 rdkeeevdlv mqkveslrqe lrrterakke levhtealaa easkdrklre qsehyskqle
      661 neleglkqkq isyspgvcsi ehqqeitklk tdlekksify eeelskregi haneiknlkk
      721 elhdsegqql alnkeimilk dklektrres qsereefese fkqqyerekv llteenkklt
      781 seldklttly enlsihnqql eeevkdladk kesvahweaq iteiiqwvsd ekdargylqa
      841 laskmteele alrnsslgtr atdmpwkmrr fakldmsarl elqsaldaei rakqaiqeel
      901 nkvkasniit ecklkdsekk nlellseieq likdteelrs ekgiehqdsq hsflaflntp
      961 tdaldqfetv dstplsvhtp tlrkkgcpgs tgfppkrkth qffvksfttp tkchqctslm
     1021 vglirqgcsc evcgfschit cvnkapttcp vppeqtkgpl gidpqkgigt ayeghvripk
     1081 pagvkkgwqr alaivcdfkl flydiaegka sqpsvvisqv idmrdeefsv ssvlasdvih
     1141 asrkdipcif rvtasqlsas nnkcsilmla dteneknkwv gvlselhkil kknkfrdrsv
     1201 yvpkeaydst lplikttqaa aiidherial gneeglfvvh vtkdeiirvg dnkkihqiel
     1261 ipndqlvavi sgrnrhvrlf pmsaldgret dfyklsetkg cqtvtsgkvr hgaltclcva
     1321 mkrqvlcyel fqsktrhrkf keiqvpynvq wmaifseqlc vgfqsgflry plngegnpys
     1381 mlhsndhtls fiahqpmdai caveisskey llcfnsigiy tdcqgrrsrq qelmwpanps
     1441 sccynapyls vysenavdif dvnsmewiqt lplkkvrpln negslnllgl etirliyfkn
     1501 kmaegdelvv petsdnsrkq mvrninnkrr ysfrvpeeer mqqrremlrd pemrnklisn
     1561 ptnfnhiahm gpgdgiqilk dlpmpgfpyp sphhhsglis spinfehiyh mtvnsaekfl
     1621 spdsinpeys pslrsvpgtp sfmtlrnprp qesrtvfsgs vsipsitksr pepgrsmsas
     1681 sglsarssaq ngsalkrefs ggsysakrqp mpspsegsls sggmdqgsda pardfdgeds
     1741 dsprhstasn ssnlssppsp asprktksls lestdrgswd p
//
LOCUS       XP_054195785             781 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-dependent kinase 11B isoform X6 [Homo sapiens].
ACCESSION   XP_054195785
VERSION     XP_054195785.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339810.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..781
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..781
                     /product="cyclin-dependent kinase 11B isoform X6"
                     /calculated_mol_wt=91060
     CDS             1..781
                     /gene="CDK11B"
                     /gene_synonym="CDC2L1; CDK11; CDK11-p110; CDK11-p46;
                     CDK11-p58; CLK-1; p58; p58CDC2L1; p58CLK-1; PITSLREA;
                     PK58"
                     /coded_by="XM_054339810.1:105..2450"
                     /db_xref="GeneID:984"
                     /db_xref="HGNC:HGNC:1729"
                     /db_xref="MIM:176873"
ORIGIN      
        1 mgdekdswkv ktldeilqek krrkeqeeka eikrlknsdd rdskrdslee gelrdhrmei
       61 tirnspyrre dsmedrgeed dslaikppqq msrkekahhr kdekrkekrk harvkekere
      121 herrkrhree qdkarrewer qkrremareh srrergndgv clfrdrleql erkrererkm
      181 reqqkeqreq kererraeer rkerearrev sahhrtmred ysdkvkashw srspprppre
      241 rfelgdgrkp vkeekmeerd llsdlqdisd serktssaes ssaesgsgse eeeeeeeeee
      301 eegstseese eeeeeeeeee eetgsnseea seqsaeevse eemsedeere nenhllvvpe
      361 srfdrdsges eeaeeevgeg tpqssalteg dyvpdspals pielkqelpk ylpalqgcrs
      421 veefqclnri eegtygvvyr akdkktdeiv alkrlkmeke kegfpitslr eintilkaqh
      481 pnivtvreiv vgsnmdkiyi vmnyvehdlk slmetmkqpf lpgevktlmi qllrgvkhlh
      541 dnwilhrdlk tsnlllshag ilkvgdfgla reygsplkay tpvvvtlwyr apelllgake
      601 ystavdmwsv gcifgelltq kplfpgksei dqinkvfkdl gtpsekiwpg yselpavkkm
      661 tfsehpynnl rkrfgallsd qgfdlmnkfl tyfpgrrisa edglkheyfr etplpidpsm
      721 fptwpakseq qrvkrgtspr ppegglgysq lgdddlketg fhltttnqga saagpgfslk
      781 f
//
LOCUS       XP_054221406             691 aa            linear   PRI 20-MAR-2023
DEFINITION  heat shock 70 kDa protein 12A isoform X1 [Homo sapiens].
ACCESSION   XP_054221406
VERSION     XP_054221406.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054365431.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..691
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..691
                     /product="heat shock 70 kDa protein 12A isoform X1"
                     /calculated_mol_wt=76757
     CDS             1..691
                     /gene="HSPA12A"
                     /coded_by="XM_054365431.1:658..2733"
                     /db_xref="GeneID:259217"
                     /db_xref="HGNC:HGNC:19022"
                     /db_xref="MIM:610701"
ORIGIN      
        1 mesvgvygfc gckaknkmkc dsrweiaase taptsayssp arslgdtgit plspshivnd
       61 tdsnvseqqs flvvvavdfg ttssgyaysf tkepecihvm rrweggdpgv snqktpttil
      121 ltperkfhsf gyaardfyhd ldpneakqwl ylekfkmklh ttgdltmdtd ltaangkkvk
      181 aleifayalq yfkeqalkel sdqagsefen sdvrwvitvp aiwkqpakqf mrqaayqagl
      241 aspenseqli ialepeaasi ycrklrlhqm ielsskaavn gysgsdtvga gftqakehir
      301 rnrqsrtflv envigeiwse leegdkyvvv dsgggtvdlt vhqirlpegh lkelykatgg
      361 pygslgvdye fekllykifg edfieqfkik rpaawvdlmi afesrkraaa pdrtnplnit
      421 lpfsfidyyk kfrghsveha lrksnvdfvk wssqgmlrms pdamnalfkp tidsiiehlr
      481 dlfqkpevst vkflflvggf aeapllqqav qaafgdqcri iipqdvglti lkgavlfgld
      541 pavikvrrsp ltygvgvlnr yvegkhppek llvkdgtrwc tdvfdkfisa dqsvalgelv
      601 krsytpakps qlviviniys sehdnvsfit dpgvkkcgtl rldltgtsgt avparreiqt
      661 lmqfgdteik ataidiatsk svkvgidfln y
//
LOCUS       XP_054223538            1002 aa            linear   PRI 20-MAR-2023
DEFINITION  BLOC-2 complex member HPS5 isoform X8 [Homo sapiens].
ACCESSION   XP_054223538
VERSION     XP_054223538.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367563.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1002
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1002
                     /product="BLOC-2 complex member HPS5 isoform X8"
                     /calculated_mol_wt=112834
     CDS             1..1002
                     /gene="HPS5"
                     /gene_synonym="AIBP63; BLOC2S2"
                     /coded_by="XM_054367563.1:245..3253"
                     /db_xref="GeneID:11234"
                     /db_xref="HGNC:HGNC:17022"
                     /db_xref="MIM:607521"
ORIGIN      
        1 mafvpvipes yshvlaefes ldpllsalrl dssrlkctsi avsrkwlalg ssggglhliq
       61 kegwkhrlfl shregaisqv acclhdddyv avatsqglvv vwelnqerrg kpeqmyvsse
      121 hkgrrvtalc wdtailrvfv gdhagkvsai klntskqaka aaafvmfpvq tittvdscvv
      181 qldyldgrll issltrsflc dterekfwki gnkerdgeyg acffpgrcsg gqqpliycar
      241 pgsrmwevnf dgevisthqf kkllslpplp vitlrsepqy dhtagssqsl sfpkllhlse
      301 hcvltwterg iyifipqnvq vllwsevkdi qdvavcrnel fclhlngkvs hlslisverc
      361 verllrrglw nlaartcclf qnsviasrar ktltadkleh lksqldhgty ndlisqleel
      421 ilkfepldsa cssrrssiss hesfsildsg iyriissrrg sqsdedscsl hsqtlseder
      481 fkeftsqqee dlpdqccgsh gnednvshap vmfetdknet flpfgiplpf rspsplvslq
      541 avkesvssfv rkttekigtl htspdlkvrp elrgdeqsce edvssdtcpk eedteeekev
      601 tspppeedrf qelkvataea mtklqdplvl feseslrmvl qewlshlekt famkdfsgvs
      661 dtdnssmkln qdvllvnesk kgildednek ekrdslgnee svdktacecv rspreslddl
      721 fqicspcaia sglrndlael ttlclelnvl nskikstsgh vdhtlqqysp eilacqflkk
      781 yffllnlkra kesiklsysn spsvwdtfie glkemassnp vymemekgdl ptrlklldde
      841 vpfdspllvv yatrlyekfg esalrslikf fpsilpsdii qlchhhpaef layldslvks
      901 rpedqrssfl esllqpeslr ldwlllavsl dappststmd degyprphsh llswgysqli
      961 lhliklpadf itkekmtdic rscgtapdkf mafysflqlr sl
//
LOCUS       XP_054224083            1832 aa            linear   PRI 20-MAR-2023
DEFINITION  SH3 and multiple ankyrin repeat domains protein 2 isoform X3 [Homo
            sapiens].
ACCESSION   XP_054224083
VERSION     XP_054224083.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368108.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1832
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1832
                     /product="SH3 and multiple ankyrin repeat domains protein
                     2 isoform X3"
                     /calculated_mol_wt=199171
     CDS             1..1832
                     /gene="SHANK2"
                     /gene_synonym="AUTS17; CORTBP1; CTTNBP1; ProSAP1; SHANK;
                     SPANK-3"
                     /coded_by="XM_054368108.1:393..5891"
                     /db_xref="GeneID:22941"
                     /db_xref="HGNC:HGNC:14295"
                     /db_xref="MIM:603290"
ORIGIN      
        1 mprsptssed emaqsfsdys vgsesdsske etiydtirat aekpggarte esqgntlvir
       61 vvihdlqqtk cirfnpdatv wvakqrilct ltqslkdvln yglfqpasng rdgkfldeer
      121 llreypqpvg egvpslefry kkrvykqasl dekqlaklht ktnlkkcmdh iqhrlvekit
      181 kmldrgldpn fhdpetgetp ltlaaqldds vevikalkng gahldfrakd gmtalhkaar
      241 arnqvalktl lelgaspdyk dsygltplyh taivggdpyc celllhehat vcckdengwh
      301 eihqacrygh vqhlehllfy gadmsaqnas gntalhical ynqdscarvl lfrggnkelk
      361 nynsqtpfqv aiiagnfela eyiknhketd ivpfreapay snrrrrppnt laaprvllrs
      421 nsdnnlnasa pdwavcstat shrslspqll qqmpskpega aktigsyvpg prsrspslnr
      481 lggagedgkr pqplwhvgsp falgankdsl safeypgpkr klysavpgrl fvavkpyqpq
      541 vdgeiplhrg drvkvlsige ggfwegsarg higwfpaecv eevqckprds qaetradrsk
      601 klfrhytvgs ydsfdtssdc iieektvvlq kkdnegfgfv lrgakadtpi eeftptpafp
      661 alqylesvde ggvawqaglr tgdflievnn envvkvghrq vvnmirqggn hlvlkvvtvt
      721 rnldpddtar kkappppkra pttaltlrsk smtseleeld kpeeivpask psraaenmav
      781 eprvatikqr pssrcfpags dmnsvyerqg iavmtptvpg spkapflgip rgtmrrqksi
      841 giteeerqfl appmlkftrs lsmpdtsedi ppppqsvpps ppppspttyn cpksptprvy
      901 gtikpafnqn saakvspatr sdtvatmmre kgmyfrreld rysldsedly srnagpqanf
      961 rnkrgqmpen pysevgkias kavyvpakpa rrkgmlvkqs nvedspektc sipiptiivk
     1021 epstsssgks sqgssmeidp qapeppsqlr pdesltvssp faaaiagavr drekrlearr
     1081 nspaflstdl gdedvglgpp aprtrpsmfp eegdfadeds aeqlsspmps atprepenhf
     1141 vggaeasapg eagrplnsts kaqgpesspa vpsassgtag pgnyvhpltg rlldpsspla
     1201 lalsardram kesqqgpkge apkadlnkpl yidtkmrpsl dagfptvtrq ntrgplrrqe
     1261 tenkyetdlg rdrkgddkkn mlidimdtsq qksagllmvh tvdatkldna lqeedekaev
     1321 emkpdsspse vpegvseteg alqisaapep ttvpgrtiva vgsmeeavil pfrippppla
     1381 svdldedfif teplppplef ansfdipddr aasvpalsdl vkqkksdtpq spslnssqpt
     1441 nsadskkpas lsnclpasfl pppesfdava dsgieevdsr sssdhhlett stistvssis
     1501 tlsseggenv dtctvyadgq afmvdkppvp pkpkmkpiih ksnalyqdal veedvdsfvi
     1561 pppapppppg saqpgmakvl qprtsklwgd vteikspils gpkanvisel nsilqqmnre
     1621 klakpgegld spmgaksasl aprspeimst isgtrsttvt ftvrpgtsqp itlqsrppdy
     1681 esrtsgtrra pspvvsptem nketlpapls aataspspal sdvfslpsqp psgdlfglnp
     1741 agrsrspsps ilqqpisnkp fttkpvhlwt kpdvadwles lnlgehkeaf mdneidgshl
     1801 pnlqkedlid lgvtrvghrm nieralkqll dr
//
LOCUS       XP_054225304            1512 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase MRCK gamma isoform X6 [Homo
            sapiens].
ACCESSION   XP_054225304
VERSION     XP_054225304.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054369329.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1512
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1512
                     /product="serine/threonine-protein kinase MRCK gamma
                     isoform X6"
                     /calculated_mol_wt=166947
     CDS             1..1512
                     /gene="CDC42BPG"
                     /gene_synonym="DMPK2; HSMDPKIN; KAPPA-200; MRCKG;
                     MRCKgamma"
                     /coded_by="XM_054369329.1:85..4623"
                     /db_xref="GeneID:55561"
                     /db_xref="HGNC:HGNC:29829"
                     /db_xref="MIM:613991"
ORIGIN      
        1 merrlraleq largeaggcp gldglldlll alhhelssgp lrrersvaqf lswaspfvsk
       61 vkelrlqrdd feilkvigrg afgevtvvrq rdtgqifamk mlhkwemlkr aetacfreer
      121 dvlvkgdsrw vttlhyafqd eeylylvmdy yaggdlltll srfedrlppe laqfylaemv
      181 laihslhqlg yvhrdvkpdn vlldvnghir ladfgsclrl ntngmvdssv avgtpdyisp
      241 eilqameegk ghygpqcdww slgvcayell fgetpfyaes lvetygkimn hedhlqfppd
      301 vpdvpasaqd lirqllcrqe erlgrggldd frnhpffegv dwerlassta pyipelrgpm
      361 dtsnfdvddd tlnhpgtlpp pshgafsghh lpfvgftyts gshspessse awaalerklq
      421 cleqekvels rkhqealhap tdhreleqlr kevqtlrdrl pemlrdkasl sqtdgppags
      481 pgqdsdlrqe ldrlhrelae graglqaqeq elcraqgqqe ellqrlqeaq ereaatasqt
      541 ralssqleea raaqreleaq vsslsrqvtq lqgqweqrle essqaktiht asetngmgpp
      601 eggpqeaqlr kevaalreql eqahshrpsg keealcqlqe enrrlsreqe rleaelaqeq
      661 eskqrleger retesnweaq ladilswvnd ekvsrgylqa latkmaeele slrnvgtqtl
      721 parpldhqwk arrlqkmeas arlelqsale aeirakqglq erltqvqeaq lqaerrlqea
      781 ekqsqalqqe lamlreelra rgpvdtkpsn slipflsfrs sekdsakdpg isgeatrhgg
      841 epdlrpegrr slrmgavfpr aptantaste glpakpgsht lrprsfpspt kclrctslml
      901 glgrqglgcd acgyfchttc apqappcpvp pdllrtalgv hpetgtgtay egflsvprps
      961 gvrrgwqrvf aalsdsrlll fdapdlrlsp psgallqvld lrdpqfsatp vlasdvihaq
     1021 srdlprifrv ttsqlavppt tctvlllaes egererwlqv lgelqrllld arprprpvyt
     1081 lkeaydnglp llphtlcaai ldqdrlalgt eeglfvihlr sndifqvgec rrvqrltlsp
     1141 sagllvvlcg rgpsvrlfal aelenievag akipesrgcq vlaagsilqa rtpvlcvavk
     1201 rqvlcyqlgp gpgpwqrrir elqapatvqs lgllgdrlcv gaaggfalyp llneaaplal
     1261 gaglvpeelp psrgglgeal gavelslsef lllfttagiy vdgagrksrg hellwpaapm
     1321 gwgaapqsrg lpvplrhreg ppdlpqepag regrvrhpgp hrqqpapavp hqeqapllfp
     1381 rvggaaeaaa qgdaegpfca lqahlaayql qppstrgpcq raarrqgqvp gsrregpscp
     1441 rlrptaapql lrgvaapslh gqrrprwrrr pheeetldip vqrvcvlppg iaepcnlpna
     1501 glrtapkppp vp
//
LOCUS       XP_054227254            1038 aa            linear   PRI 20-MAR-2023
DEFINITION  DENN domain-containing protein 5B isoform X19 [Homo sapiens].
ACCESSION   XP_054227254
VERSION     XP_054227254.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371279.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1038
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1038
                     /product="DENN domain-containing protein 5B isoform X19"
                     /calculated_mol_wt=118341
     CDS             1..1038
                     /gene="DENND5B"
                     /coded_by="XM_054371279.1:307..3423"
                     /db_xref="GeneID:160518"
                     /db_xref="HGNC:HGNC:28338"
                     /db_xref="MIM:617279"
ORIGIN      
        1 mklltlqlpe ainfgslpvg afhlserkdy qrlmtvaegi ttllfpfqwq hvyvpilpas
       61 llhfldapvp ylmglqskeg tdrsklelpq eanlcfvdid nhfielpeef pqfpnkvdfi
      121 qelsevlvqf gippegslhc sestsklknm vlkdlvndkk ngnvctnnis myellkgnet
      181 iarlqalakr tgvavekmdl saslgekdkd lklhceeael rdyqlnvqlr evfanrftqm
      241 fadyeafviq taqdmeswlt nreqmqnfdk asflsdqpep ylpflsrfie tqmfatfidn
      301 kimsqweekd pllrvfdtri dkirlynvra ptlrtsiyqk cstlkeaaqs ieqrlmkmdh
      361 taihphlldm kigqgkyeqg ffpklqsdvl atgptsnnrw vsrsataqrr kerlrqhseh
      421 vgldndlrep sgellvcqns mafwewdqgp ppparlpkks fsecclkymq earslgknlr
      481 qpklsdlspa viaqtnckfv egllkecrmk tkrmlvekmg heavelghge anitgleent
      541 liaslcdlle riwshglqvk qgksalwshl iqfqdreekq ehlaespval gperrksdsg
      601 vmlptlrvsl iqdmrhiqnm seiktdvgra rawirlslek kllsqhlkql lsnqpltkkl
      661 ykryaflrce eereqflyhl lslnavdyfc ftsvfttimi pyrsviipik klsnaiitsn
      721 pwicvsgelg dtgvmqipkn llemtfecqn lgklttvqig hdnsgllakw lvdcvmvrne
      781 itghtyrfpc grwlgkgidd gslerilige lmtsasdedl vkqcrtppqq kspttarrls
      841 itsltgknnk pnagqiqegi geavnnivkh fhkpekergs ltvllcgeng lvaaleqvfh
      901 hgfksarifh knvfiwdfie kvvayfettd qildneddvl iqksscktfc hyvnaintap
      961 rnigkdgkfq ilvclgtrdr llpqwiplla ecpaitrmye esallrdrmt vnslirilqt
     1021 iqdftivleg slikgvdv
//
LOCUS       XP_054230696             523 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor SPT20 homolog isoform X34 [Homo sapiens].
ACCESSION   XP_054230696
VERSION     XP_054230696.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374721.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..523
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..523
                     /product="transcription factor SPT20 homolog isoform X34"
                     /calculated_mol_wt=58779
     CDS             1..523
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /coded_by="XM_054374721.1:222..1793"
                     /db_xref="GeneID:55578"
                     /db_xref="HGNC:HGNC:20596"
                     /db_xref="MIM:613417"
ORIGIN      
        1 myviesarqr ppkrkylssg rksvfqklyd lyieecekep evkqklrrnv nlleklvmqe
       61 tlsclvvnly pgnegyslml rgkngsdset irlpyeegel leyldaeelp pilvdlleks
      121 qvnifhcgcv iaeirdyrqs snmkspgyqs rhillrptmq tlicdvhsit sdnhkwtqed
      181 klllesqlil ataeplcldp siavtctanr llynkqkmnt rpmkrcfkry srsslnrqqd
      241 lshcppppql rlldflqkrk erkagqhydl kiskagncvd mwkrspcnla ipsevdveky
      301 akveksiksd dsqptvwpah dvkddyvfec eagtqyqktk ltilqslgdp lyygkiqpck
      361 adeesdsqms pshsstddhs nwfiigsktd aervvnqyqe lvqneakcpv kmshsssgsa
      421 slsqvspgke tdqtetvsvq ssvlgkgvkh rpppiklpss sgnsssgnyf tpqqtssflk
      481 sptpppsskp ssiprkssvd lnqvsmlspa alspasssqr hes
//
LOCUS       XP_054230891             294 aa            linear   PRI 20-MAR-2023
DEFINITION  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054230891
VERSION     XP_054230891.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054374916.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060937) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..294
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..294
                     /product="ubiquitin carboxyl-terminal hydrolase isozyme L3
                     isoform X1"
                     /calculated_mol_wt=33110
     CDS             1..294
                     /gene="UCHL3"
                     /gene_synonym="UCH-L3"
                     /coded_by="XM_054374916.1:31..915"
                     /db_xref="GeneID:7347"
                     /db_xref="HGNC:HGNC:12515"
                     /db_xref="MIM:603090"
ORIGIN      
        1 megqrwlple anpevtnqfl kqlglhpnwq fvdvygmdpe llsmvprpvc avlllfpite
       61 kyevfrteee ekiksqgqdv tssvyfmkqt isnacgtigl ihaiannkdk mhfesgstlk
      121 kfleesvsms peerarylen ydairvthet sahegqtess spsssqphss hcrtkasslc
      181 hhaslpwvkr nhvgpakats pslrlrrwrp flrlpslglh svapsidekv dlhfialvhv
      241 dghlyeldgr kpfpinhget sdetlledai evckkfmerd pdelrfnaia lsaa
//
LOCUS       XP_054232152            2046 aa            linear   PRI 20-MAR-2023
DEFINITION  ninein isoform X7 [Homo sapiens].
ACCESSION   XP_054232152
VERSION     XP_054232152.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376177.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2046
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2046
                     /product="ninein isoform X7"
                     /calculated_mol_wt=237538
     CDS             1..2046
                     /gene="NIN"
                     /gene_synonym="SCKL7"
                     /coded_by="XM_054376177.1:195..6335"
                     /db_xref="GeneID:51199"
                     /db_xref="HGNC:HGNC:14906"
                     /db_xref="MIM:608684"
ORIGIN      
        1 mdeveqdqhe arlkelfdsf dttgtgslgq eeltdlchml sleevapvlq qtllqdnllg
       61 rvhfdqfkea lililsrtls neehfqepas vgvscqqvar vsgpllnghk lthcllikdc
      121 sleaqpkyvr ggkrygrrsl pefqesveef pevtviepld eearpshipa gdcsehwktq
      181 rseeyeaegq lrfwnpddln asqsgssppq dwieeklqev cedlgitrdg hlnrkklvsi
      241 ceqyglqnvd gemleevfhn ldpdgtmsve dffyglfkng ksltpsastp yrqlkrhlsm
      301 qsfdesgrrt ttssamtsti gfrvfscldd gmghasveri ldtwqeegie nsqeilkald
      361 fsldgninlt eltlalenel lvtknsihqa alasfkaeir hllervdqvv rekeklrsdl
      421 dkaeklkslm asevddhhaa ierrneynlr kldeeykeri aalknelrke reqilqqagk
      481 qrleleqeie kakteenyir drlalslken srlenellen aeklaeyenl tnklqrnlen
      541 vlaekvlqdq vdelqselee yraqgrvlrl plknspseev eansggiepe hglgseecnp
      601 lnmsieaelv ieqmkeqhhr dicclrlele dkvrhyekql detvvsckka qenmkqrhen
      661 ethtlekqis dlkneiaelq gqaavlkeah heatcrheee kkqlqvklee ekthlqeklr
      721 lqhemelkar ltqaqasfer ereglqssaw teekvrgltq eleqfhqeql tslvekhtle
      781 keelrkelle khqrelqegr ekmetecnrr tsqieaqfqs dcqkvterce salqslegry
      841 rqelkdlqeq qreeksqwef ekdeltqeca eaqellketl krekttslvl tqeremlekt
      901 ykehlnsmvv erqqllqdle dlrnvsetqq sllsdqilel ksshkrelre reevlcqaga
      961 seqlasqrle rlemehdqer qemmskllam enihkatcet adreraemst eisrlqskik
     1021 emqqatspls mlqsgcqvig eeevegdgal sllqqgeqll eengdvllsl qraheqavke
     1081 nvkmateisr lqqrlqklep glvmssclde pateffgnta eqtepflqqn rtkqvegvtr
     1141 rhvlsdledd evrdlgstgt ssvqrqevki eeseasvegf selenseetr teswelknqi
     1201 sqlqeqlmml cadcdrasek kqdllfdvsv lkkklkmler ipeaspkykl lyedvsrend
     1261 clqeelrmme trydealenn keltaevfrl qdelkkmeev tetflsleks ydevkienee
     1321 lnvlvlrlqg kieklqesvv qrcdcclwea slenleiepd gnilqlnqtl eecvprvrsv
     1381 hhvieeckqe nqylegntql lekvkaheia wlhgtiqthq erprvqnqvi leenttllgf
     1441 qdkhfqhqat iaelelektk lqeltrklke rvtilvkqkd vlshgekeee lkammhdlqi
     1501 tcsemqqkve llryeseklq qensilrnei ttlneedsis nlklgtlngs qeemwqktet
     1561 vkqenaavqk mvenlkkqis elkiknqqld lentelsqkn sqnqeklqel nqrltemlcq
     1621 kekepgnsal eereqekfnl keelerckvq sstlvsslea elsevkiqth ivqqenhllk
     1681 delekmkqlh rcpdlsdfqq kissvlsyne kllkekeals eelnscvdkl akssllehri
     1741 atmkqeqksw ehqsaslksq lvasqekvqn ledtvqnvnl qmsrmksdlr vtqqekealk
     1801 qevmslhkql qnaggkswap eiathpsglh nqqkrlswdk ldhlmneeqq llwqenerlq
     1861 tmvqntkael thsrekvrql esnllpkhqk hlnpsgtmnp teqeklslkr ecdqfqkeqs
     1921 panrkvsqmn sleqeletih leneglkkkq vkldeqlmem qhlrstatps psphawdlql
     1981 lqqqacpmvp reqflqlqrq llqaerinqh lqeelenrts etntpqallp eqravhadsy
     2041 rrighl
//
LOCUS       XP_054232232             408 aa            linear   PRI 20-MAR-2023
DEFINITION  protein phosphatase 1A isoform X1 [Homo sapiens].
ACCESSION   XP_054232232
VERSION     XP_054232232.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376257.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..408
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..408
                     /product="protein phosphatase 1A isoform X1"
                     /calculated_mol_wt=45646
     CDS             1..408
                     /gene="PPM1A"
                     /gene_synonym="PP2C-ALPHA; PP2CA; PP2Calpha"
                     /coded_by="XM_054376257.1:520..1746"
                     /db_xref="GeneID:5494"
                     /db_xref="HGNC:HGNC:9275"
                     /db_xref="MIM:606108"
ORIGIN      
        1 mlihyiknqe tyeehqkwqd ledqdimgaf ldkpkmekhn aqgqgnglry glssmqgwrv
       61 emedahtavi glpsglesws ffavydghag sqvakycceh lldhitnnqd fkgsagapsv
      121 envkngirtg fleidehmrv msekkhgadr sgstavgvli spqhtyfinc gdsrgllcrn
      181 rkvhfftqdh kpsnpleker iqnaggsvmi qrvngslavs ralgdfdykc vhgkgpteql
      241 vspepevhdi erseeddqfi ilacdgiwdv mgneelcdfv rsrlevtddl ekvcnevvdt
      301 clykgsrdnm svilicfpna pkvspeavkk eaeldkylec rveeiikkqg egvpdlvhvm
      361 rtlasenips lppggelask rnvieavynr lnpyknddtd ststddmw
//
LOCUS       XP_054232709             561 aa            linear   PRI 20-MAR-2023
DEFINITION  basal body-orientation factor 1 isoform X5 [Homo sapiens].
ACCESSION   XP_054232709
VERSION     XP_054232709.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376734.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..561
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..561
                     /product="basal body-orientation factor 1 isoform X5"
                     /calculated_mol_wt=65427
     CDS             1..561
                     /gene="BBOF1"
                     /gene_synonym="C14orf45; CCDC176; FBB10"
                     /coded_by="XM_054376734.1:131..1816"
                     /db_xref="GeneID:80127"
                     /db_xref="HGNC:HGNC:19855"
ORIGIN      
        1 mpskgkdkkk gkskgkdtkk liktdesvvd rakanaslwe arlevtelsr ikyrdtsqil
       61 aksnedlkkk qckmekdims vlsylkkqdq ekdnmieklk qqlnetkeka qeekdkleqk
      121 ytrqineleg qfhqkakeig mihtelkavr qfqkrkiqve relddlkenl rnterihqet
      181 lrrlesrffe ekhrleqeae kkiimlaera hheaivqlnd agrnvfkenv ylqkalayhl
      241 ketdalqkns qklqeshtll lhqkeindll vkekimqlvq qrsqiqtlqk kvvnletals
      301 ymtkefesev lklqqhamie nqagqveidk lqhllqmkdr emnrvkklak nilderteve
      361 rffldalhqv kqqilisrkh ykqiaqaafn lkmraactgr teypkirtfd grehstnsvn
      421 qdlleaekwt hiegnvdigd ltweqkekvl rllfakmngc psrkynqssr ppvpdyvvsd
      481 sgetkefgde sklqdkifit qqiaisdssg evvlptipke pqesdtvrrn llrstdydlt
      541 daagspflae slllnifkki s
//
LOCUS       XP_054233574            2657 aa            linear   PRI 20-MAR-2023
DEFINITION  MAX gene-associated protein isoform X17 [Homo sapiens].
ACCESSION   XP_054233574
VERSION     XP_054233574.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054377599.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2657
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2657
                     /product="MAX gene-associated protein isoform X17"
                     /calculated_mol_wt=290088
     CDS             1..2657
                     /gene="MGA"
                     /gene_synonym="MAD5; MXD5"
                     /coded_by="XM_054377599.1:383..8356"
                     /db_xref="GeneID:23269"
                     /db_xref="HGNC:HGNC:14010"
                     /db_xref="MIM:616061"
ORIGIN      
        1 mfkldtgkmp vvylepcavt rstvkiselp dnmlstsrkd kssmlaeley lptyiensne
       61 tafclgkese nglrkhspdl rvvqkypllk epqwkypdis dsisterild dskdsvgdsl
      121 sgkedlgrkr ttmlkiataa kvvnanqnas pnvpgkrgrp rklklckagr ppkntgksli
      181 stkntpvspg stfpdvkpdl edvdgvlfvs feskealdih avdgtteess slqasttnds
      241 gyrarisqle keliedlksl rhkqvihpgl qevglklnsv dptmsidlky lgvqlplapa
      301 tsfpfwnltg tnpaspdagf pfvsrtgktn dftkikgwrg kfhsasasrn eggnsesslk
      361 nrsafcsdkl deylenegkl metsmgfssn aptspvvyql ptkstsyvrt ldsvlkkqst
      421 ispstsyslk phsvppvsrk aksqnrqatf sgrtkssyks ilpypvspkq kyshvilgdk
      481 vtknssgiis enqannfvvp tldenifpkq islrqaqqqq qqqqgsrppg lsksqvklmd
      541 ledcalwegk prtyiteera dvslttllta qaslktkpih tiirkrappc nndfcrlgcv
      601 csslalekrq pahcrrpdcm fgctclkrkv vlvkggsktk hfqrkaahrd pvfydtlgee
      661 areeeegire eeeqlkekkk rkkleytice tepeqpvrhy plwvkvegev dpepvyiptp
      721 sviepmkpll lpqpevlspt vkgklltgik sprsytpkpn pvireedkdp vylyfesmmt
      781 carvrvyerk kedqrqpsss sspspsfqqq tschsspenh nnakepdseq qplkqltcdl
      841 eddsdklqek swksscnege ssstsymhqr spggptklie iisdcnweed rnkilsilsq
      901 hinsnmpqsl kvgsfiiela sqrksrgekn ppvyssrvki smpscqdqdd maeksgsetp
      961 dgplspgkme dispvqtdal dsvrerlhgg kglpfyagls pagklvaykr kpssstsgli
     1021 qvngksypqa klllgqmgal hpanrlaayi tgrlrpsvld lstlstvisk vasnakvaas
     1081 rkprtllpst snskmasssg tatnrpgknl kafvaakrpi aarpspggvf tqfvmskvga
     1141 lqqkipgvst pqtlagtqkf sirpspvmvv tpvvssepvq vcspvtaavt tttpqvflen
     1201 ttavtpmtai sdvetketty ssgatttgvv evsetntsts vtstqstatv nltkttgitt
     1261 pvasvafpks lvaspstitl pvastastsl vvvtaaasss mvttptsslg svpiilsgin
     1321 gsppvsqrpe naaqipvatp qvspntvkra gprlllipvq qgsptlrpvs ntqlqghrmv
     1381 lqpvrspsgm nlfrhpngqi vqllplhqlr gsntqpnlqp vmfrnpgsvm girlpapskp
     1441 setppsstss safsvmnpvi qavgsssavn vitqapslls sgasfvsqag tltlrisppe
     1501 pqsfasktgs etkityssgg qpvgtaslip lqsgsfallq lpgqkpvpss ilqhvaslqm
     1561 kresqnpdqk detnsikreq etkkvlqseg eavdpeanvi kqnsgaatse etlndsledr
     1621 gdhldeeclp eegcatvkps ehscitgsht dqdykdvnee ygarnrkssk ekvavlevrt
     1681 isekasnktv qnlskvqhqk lgdvkveqqk gfdnpeenss efpvtfkees kfelsgskvm
     1741 eqqsnlqpea kekecgdsle kdrerwrkhl kgpltrkcvg asqeckkead eqliketktc
     1801 qensdvfqqe qgisdllgks gitedarvlk tecdswsris npsafsivpr raakssrgng
     1861 hfqghlllpg eqiqpkqekk ggrssadftv ldleeddedd nektddside ivdvvsdyqs
     1921 eevddveknn cveyieddee hvdietveel seeinvahlk ttaahtqsfk qpscthisad
     1981 ekaaersrka ppiplklkpd ywsdklqkea eafayyrrth tanerrrrge mrdlfeklki
     2041 tlgllhsskv sksliltraf seiqgltdqa dkligqknll trkrnilirk vsslsgktee
     2101 vvlkkleyiy akqqaleaqk rkkkmgsdef dispriskqq egssassvdl gqmfinnrrg
     2161 kplilsrkkd qatentspln tphtsanlvm tpqgqlltlk gplfsgpvva vspdllesdl
     2221 kpqvagsava lpenddlfmm privnvtsla tegglvdmgg skyphevpds kpsdhlkdtv
     2281 rnednsledk grissrgnrd grvtlgptqv flankdsgyp qivdvsnmqk aqeflpkkis
     2341 gdmrgiqykw kesesrgerv kskdssfhkl kmkdlkdssi emelrkvtsa ieeaaldsse
     2401 lltnmededd tdetltslln eiaflnqqln ddsvglaelp ssmdtefpgd arrafiskvp
     2461 pgsratfqve hlgtglkelp dvqgesdsis plllhleddd fsenekqlae pasepdvlki
     2521 vidseikdsl lsnkkaidgg kntsglpaep esvsspptlh mktglensns tdtlwrpmpk
     2581 laplglkvan pssdadgqsl kvmpclapia akvgsvghkm nltgndqegr eskvmptlap
     2641 vvaklgnsga spssagk
//
LOCUS       XP_054234357            1328 aa            linear   PRI 20-MAR-2023
DEFINITION  Fanconi anemia group I protein isoform X1 [Homo sapiens].
ACCESSION   XP_054234357
VERSION     XP_054234357.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054378382.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060939) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1328
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1328
                     /product="Fanconi anemia group I protein isoform X1"
                     /calculated_mol_wt=149193
     CDS             1..1328
                     /gene="FANCI"
                     /gene_synonym="KIAA1794"
                     /coded_by="XM_054378382.1:308..4294"
                     /db_xref="GeneID:55215"
                     /db_xref="HGNC:HGNC:25568"
                     /db_xref="MIM:611360"
ORIGIN      
        1 mdqkilslaa ektadklqef lqtlregdlt nllqnqavkg kvagallrai fkgspcseea
       61 gtlrrrkiyt cciqlvesgd lqkeiaseii gllmleahhf pgpllvelan efisavregs
      121 lvngkslell piiltalatk kenlaygkgv lsgeeckkql intlcsgrwd qqyviqltsm
      181 fkdvpltaee vefvvekals mfskmnlqei pplvyqllvl sskgsrksvl egiiaffsal
      241 dkqhneeqsg delldvvtvp sgelrhvegt iilhivfaik ldyelgrelv khlkvgqqgd
      301 snnnlspfsi alllsvtriq rfqdqvldll ktsvvksfkd lqllqgskfl qnlvphrsyv
      361 stmilevvkn svhswdhvtq glvelgfilm dsygpkkvld gktietspsl srmpnqhack
      421 lganilletf kihemirqei leqvlnrvvt rasspishfl dllsnivmya plvlqscssk
      481 vteafdylsf lplqtvqrll kavqpllkvs msmrdclilv lrkamfanql darksavagf
      541 llllknfkvl gslsssqcsq slsvsqvhvd vhshynsvan etfcleimds lrrclsqqad
      601 vrlmlyegfy dvlrrnsqla nsvmqtllsq lkqfyepkpd llpplkleac iltqgdkisl
      661 qepldyllcc iqhclawykn tviplqqgee eeeeeeafye dlddilesit nrmikseled
      721 feldksadfs qstsigiknn icaflvmgvc evlieynfsi ssfsknrfed ilslfmcykk
      781 lsdilnekag kaktkmankt sdsllsmkfv sslltalfrd siqshqesls vlrssnefmr
      841 yavnvalqkv qqlketghvs gpdgqnpeki fqnlcditrv llwrytsipt sveesgkkek
      901 gksisllcle glqkifsavq qfyqpkiqqf lraldvtdke geeredadvs vtqrtafqir
      961 qfqrsllnll ssqeedfnsk ealllvtvlt slskllepss pqfvqmlswt skickensre
     1021 dalfckslmn llfslhvsyk spvillrdls qdihghlgdi dqdvevektn hfaivnlrta
     1081 aptvcllvls qaekvleevd wlitklkgqv sqetlseeas sqatlpnqpv ekaiimqlgt
     1141 lltffhelvq talpsgscvd tllkdlckmy ttltalvryy lqvcqssggi pknmeklvkl
     1201 sgshltplcy sfisyvqnks kslnytgekk ekpaavatam arvlretkpi pnlifaieqy
     1261 ekflihlskk skvnlmqhmk lstsrdfkik gnildmvlre dgedeneegt asehggqnke
     1321 pakkkrkk
//
LOCUS       XP_054235816            3635 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase SMG1 isoform X6 [Homo sapiens].
ACCESSION   XP_054235816
VERSION     XP_054235816.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379841.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3635
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3635
                     /product="serine/threonine-protein kinase SMG1 isoform X6"
                     /calculated_mol_wt=407731
     CDS             1..3635
                     /gene="SMG1"
                     /gene_synonym="61E3.4; ATX; LIP"
                     /coded_by="XM_054379841.1:254..11161"
                     /db_xref="GeneID:23049"
                     /db_xref="HGNC:HGNC:30045"
                     /db_xref="MIM:607032"
ORIGIN      
        1 mrflrtdsas adpdnlkyss srdrggsssy glqpsnsavv srqrhddtrv hadiqndekg
       61 gysvnggsge ntygrkslgq elrvnnvtsp eftsvqhgsr alatkdmrks qersmsysde
      121 srlsnllrri treddrdrrl atvkqlkefi qqpenklvlv kqldnilaav hdvlnesskl
      181 lqelrqegac clgllcasls yeaekifkwi fskfsssakd evkllylcat ykaletvgek
      241 kafssvmqlv mtslqsilen vdtpellckc vkcillvarc yphifstnfr dtvdilvgwh
      301 idhtqkpslt qqvsgwlqsl epfwvadlaf sttllgqfle dmeayaedls hvasgesvde
      361 dvpppsvslp klaallrvfs tvvrsigerf spirgppite ayvtdvlyrv mrcvtaanqv
      421 ffseavltaa necvgvllgs ldpsmtihcd mvitygldql encqtcgtdy iisvlnlltl
      481 iveqintklp ssfveklfip sskllflryh kekevvavah avyqavlslk nipvletayk
      541 lilgemtcal nnllhslqlp eacseikhea fknhvfnvdn akfvvifdls alttignakn
      601 sligmwalsp tvfallsknl mivhsdlavh fpaiqyavly tlyshctrhd hfissslsss
      661 spslfdgavi stvttatkkh fsiilnllgi llkkdnlnqd trkllmtwal eaavlmkkse
      721 tyaplfslps fhkfckglla ntlvedvnic lqacsslhal ssslpddllq rcvdvcrvql
      781 vhsgtrirqa fgkllksipl dvvlsnnnht eiqeislalr shmskapsnt fhpqdfsdvi
      841 sfilygnshr tgkdnwlerl fyscqrldkr dqstiprnll ktdavlwqwa iweaaqftvl
      901 sklrtplgra qdtfqtiegi irslaahtln pdqdvsqwtt adndeghgnn qlrlvlllqy
      961 lenleklmyn ayegcanalt sppkvirtff ytnrqtcqdw ltrirlsimr vgllagqpav
     1021 tvrhgfdllt emkttslsqg nelevtimmv vealcelhcp eaiqgiavws ssivgknllw
     1081 insvaqqaeg rfekasveyq ehlcamtgvd ccissfdksv ltlanagrns aspkhslnge
     1141 srktvlskpt dsspevinyl gnkacecyis iadwaavqew qnaihdlkks tsstslnlka
     1201 dfnyikslss fesgkfvect eqlellpgen inllaggske kidmkkllpn mlspdprelq
     1261 ksievqllrs svclatalnp ieqdqkwqsi tenvvkylkq tsriaigplr lstltvsqsl
     1321 pvlstlqlyc ssalentvsn rlstedclip lfsealrsck qhdvrpwmqa lrytmyqnql
     1381 lekikeqtvp irshlmelgl taakfarkrg nvslatrlla qcsevqlgkt ttaqdlvqhf
     1441 kklstqgqvd ekwgpeldie ktkllytagq sthamemlss caisfcksvk aeyavaksil
     1501 tlakwiqaew keisgqlkqv yraqhqqnft glstlsknil tlielpsvnt meeeypries
     1561 estvhigvge pdfilgqlyh lssvqapeva kswaalaswa yrwgrkvvdn asqgegvrll
     1621 preksevqnl lpdtiteeek eriygilgqa vcrpagiqde ditlqitese dneeddmvdv
     1681 iwrqlisscp wlseldesat egvikvwrkv vdrifslykl scsayftflk lnagqiplde
     1741 ddprlhlshr veqstddmiv matlrllrll vkhagelrqy lehglettpt apwrgiipql
     1801 fsrlnhpevy vrqsicnllc rvaqdsphli lypaivgtis lssesqasgn kfstaiptll
     1861 gniqgeellv seceggsppa sqdsnkdepk sglnedqamm qdcyskivdk lssanptmvl
     1921 qvqmlvaelr rvtvlwdelw lgvllqqhmy vlrriqqled evkrvqnnnt lrkeekiaim
     1981 rekhtalmkp ivfalehvrs itaapaetph ekwfqdnygd aienaleklk tplnpakpgs
     2041 swipfkeiml slqqraqkra syilrleeis pwlaamtnte ialpgevsar dtvtihsvgg
     2101 titilptktk pkkllflgsd gksypylfkg ledlhlderi mqflsivntm fatinrqetp
     2161 rfharhysvt plgtrsgliq wvdgatplfg lykrwqqrea alqaqkaqds yqtpqnpgiv
     2221 prpselyysk igpalktvgl sldvsrrdwp lhvmkavlee lmeatppnll akelwssctt
     2281 pdewwrvtqs yarstavmsm vgyiiglgdr hldnvlidmt tgevvhidyn vcfekgkslr
     2341 vpekvpfrmt qnietalgvt gvegvfrlsc eqvlhimrrg retlltllea fvydplvdwt
     2401 aggeagfaga vyggggqqae skqskremer eitrslfssr vaeikvnwfk nrdemlvvlp
     2461 kldgsldeyl slqeqltdve klqgklleei eflegaegvd hpshtlqhry sehtqlqtqq
     2521 ravqeaiqvk lnefeqwith yqaafnnlea tqlasllqei stqmdlgpps yvpataflqn
     2581 agqahlisqc eqlegevgal lqqrrsvlrg cleqlhhyat valqypkaif qkhrieqwkt
     2641 wmeelicntt vercqelyrk yemqyapqpp ptvcqfitat emtlqryaad insrlirqve
     2701 rlkqeavtvp vcedqlkeie rcikvflhen geegslslas viisalctlt rrnlmmegaa
     2761 ssageqlvdl tsrdgawfle elcsmsgnvt clvqllkqch lvpqdldipn pmeasetvhl
     2821 angvytslqe lnsnfrqiif pealrclmkg eytlesmlhe ldglieqttd gvplqtlves
     2881 lqaylrnaam gleeethahy idvarllhaq ygeliqprng svdetpkmsa gqmllvafdg
     2941 mfaqvetafs llveklnkme ipiawrkidi irearstqvn ffdddnhrqv leeifflkrl
     3001 qtikeffrlc gtfsktlsgs ssledqntvn gpvqivnvkt lfrnscfsed qmakpikaft
     3061 adfvrqllig lpnqalgltl csfisalgvd iiaqveakdf gaeskvsvdd lckkavehni
     3121 qigkfsqlvm nratvlassy dtawkkhdlv rrletsissc ktslqrvqlh iamfqwqhed
     3181 llinrpqams vtppprsail tsmkkklhtl sqietsiatv qeklaaless ieqrlkwagg
     3241 anpalapvlq dfeatiaerr nlvlkesqra sqvtflcsni ihfeslrtrt aealnldaal
     3301 felikrcqqm csfasqfnss vselelrllq rvdtglehpi gssewllsah kqltqdmstq
     3361 raiqtekeqq ietvcetiqn lvdniktvlt ghnrqlgdvk hllkamakde eaaladgedv
     3421 pyensvrqfl geykswqdni qtvlftlvqa mgqvrsqehv emlqeitptl kelktqsqsi
     3481 ynnlvsfasp lvtdatnecs sptssatyqp sfaaavrsnt gqktqpdvms qnarkliqkn
     3541 latsadtpps tvpgtgksva cspkkavrdp ktgkavqern syavsvwkrv kaklegrdvd
     3601 pnrrmsvaeq vdyvikeatn ldnlaqlyeg wtawv
//
LOCUS       XP_054236225            1190 aa            linear   PRI 20-MAR-2023
DEFINITION  integrin alpha-D isoform X1 [Homo sapiens].
ACCESSION   XP_054236225
VERSION     XP_054236225.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380250.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1190
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1190
                     /product="integrin alpha-D isoform X1"
                     /calculated_mol_wt=129619
     CDS             1..1190
                     /gene="ITGAD"
                     /gene_synonym="ADB2; CD11D"
                     /coded_by="XM_054380250.1:27..3599"
                     /db_xref="GeneID:3681"
                     /db_xref="HGNC:HGNC:6146"
                     /db_xref="MIM:602453"
ORIGIN      
        1 mtfgtvllls vlasyhgfnl dveeptifqe daggfgqsvv qfggsrlvvg aplevvaanq
       61 tgrlydcaaa tgmcqpiplh irpeavnmsl gltlaastng srllacgptl hrvcgensys
      121 kgsclllgsr weiiqtvpda tpecphqemd ivflidgsgs idqndfnqmk gfvqavmgqf
      181 egtdtlfalm qysnllkihf tftqfrtsps qqslvdpivq lkgltftatg iltvvtqlfh
      241 hkngarksak kilivitdgq kykdpleysd vipqaekagi iryaigvgha fqgptarqel
      301 ntissappqd hvfkvdnfaa lgsiqkqlqe kiyavegtqs rasssfqhem sqegfstalt
      361 mslpspgils sqdglflgav gsfswsggaf lyppnmsptf inmsqenvdm rdsylgyste
      421 lalwkgvqnl vlgapryqht gkaviftqvs rqwrkkaevt gtqigsyfga slcsvdvdsd
      481 gstdliliga phyyeqtrgg qvsvcplprg qrvqwqcdav lrgeqghpwg rfgaaltvlg
      541 dvnedklidv aigapgeqen rgavylfhga sesgispshs qriassqlsp rlqyfgqals
      601 ggqdltqdgl mdlavgargq vlllrslpvl kvgvamrfsp vevakavyrc weekpsalea
      661 gdatvcltiq kssldqlgdi qssvrfdlal dpgrltsrai fnetknptlt rrktlglgih
      721 cetlklllpd cvedvvspii lhlnfslvre pipspqnlrp vlavgsqdlf taslpfeknc
      781 gqdglcegdl gvtlsfsglq tltvgsslel nvivtvwnag edsygtvvsl yypaglshrr
      841 vsgaqkqphq salrlacetv ptedeglrss rcsvnhpifh egsngtfivt fdvsykatlg
      901 drmlmrasas sennkasssk atfqlelpvk yavytmisrc pvpglplgpl aflyawqees
      961 tkyfnfatsd ekkmkeaehr yrvnnlsqrd laisinfwvp vllngvavwd vvmeapsqsl
     1021 pcvserkppq hsdfltqisr spmldcsiad clqfrcdvps fsvqeeldft lkgnlsfgwv
     1081 retlqkkvlv vsvaeitfdt svysqlpgqe afmraqmemv leedevynai piimgssvga
     1141 llllalitat lyklgffkrh ykemledkpe dtatfsgddf scvapnvpls
//
LOCUS       XP_054236264             882 aa            linear   PRI 20-MAR-2023
DEFINITION  kinesin-like protein KIFC3 isoform X8 [Homo sapiens].
ACCESSION   XP_054236264
VERSION     XP_054236264.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054380289.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..882
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..882
                     /product="kinesin-like protein KIFC3 isoform X8"
                     /calculated_mol_wt=98241
     CDS             1..882
                     /gene="KIFC3"
                     /coded_by="XM_054380289.1:153..2801"
                     /db_xref="GeneID:3801"
                     /db_xref="HGNC:HGNC:6326"
                     /db_xref="MIM:604535"
ORIGIN      
        1 maqmeflfrk ntltaawkpr hqetlrleag vpeqckaawc peeaaepqam vpsrrtwnlg
       61 atpslrglwr vgrapepepg marpapapas paarpfphtg pgrlrtgrgk dtpvcgdeds
      121 sarsaarpal aqcralsvdw agpgsphgly ltlqvehlke klisqaqevs rlrselggtd
      181 lekhrdllmv enerlrqemr rceaelqelr tkpagpcpgc ehsqesaqlr dklsqlqlem
      241 aeskgmlsel nlevqqktdr laevelrlkd claekaqeee rlsrrlrdsh etiaslraqs
      301 ppvkyviktv evessktkqa lsesqarnqh lqeqvamqrq vlkemeqqlq sshqltarlr
      361 aqiamyesel erahgqmlee mqsleedknr aieeafaraq vemkavhenl agvrtnlltl
      421 qpalrtltnd ynglkrqvrg fplllqealr svkaeigqai eevnsnnqel lrkyrrelql
      481 rkkchnelvr lkgnirviar vrpvtkedge gpeatnavtf dadddsiihl lhkgkpvsfe
      541 ldkvfspqas qqdvfqevqa lvtscidgfn vcifaygqtg agktytmegt aenpginqra
      601 lqllfsevqe kasdweytit vsaaeiynev lrdllgkepq ekleirlcpd gsgqlyvpgl
      661 tefqvqsvdd inkvfefght nrtteftnln ehssrshall ivtvrgvdcs tglrttgkln
      721 lvdlagserv gksgaegsrl reaqhinksl salgdviaal rsrqghvpfr nskltyllqd
      781 slsgdsktlm vvqvspvekn tsetlyslkf aervrsvelg pglrraelgs wssqehlewe
      841 pacqtpqpsa rahsapssgt ssrpgsirrk lqpsgksrpl pv
//
LOCUS       XP_054171259             983 aa            linear   PRI 20-MAR-2023
DEFINITION  AP-2 complex subunit beta isoform X1 [Homo sapiens].
ACCESSION   XP_054171259
VERSION     XP_054171259.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054315284.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..983
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..983
                     /product="AP-2 complex subunit beta isoform X1"
                     /calculated_mol_wt=109250
     CDS             1..983
                     /gene="AP2B1"
                     /gene_synonym="ADTB2; AP105B; AP2-BETA; CLAPB1"
                     /coded_by="XM_054315284.1:348..3299"
                     /db_xref="GeneID:163"
                     /db_xref="HGNC:HGNC:563"
                     /db_xref="MIM:601025"
ORIGIN      
        1 mtdskyfttn kkgeifelka elnnekkekr keavkkviaa mtvgkdvssl fpdvvncmqt
       61 dnlelkklvy lylmnyaksq pdmaimavns fvkdcedpnp liralavrtm gcirvdkite
      121 ylceplrkcl kdedpyvrkt aavcvaklhd inaqmvedqg fldslrdlia dsnpmvvana
      181 vaalseises hpnsnlldln pqninkllta lnectewgqi fildclsnyn pkddreaqsi
      241 cervtprlsh ansavvlsav kvlmkflell pkdsdyynml lkklapplvt llsgepevqy
      301 valrninliv qkrpeilkqe ikvffvkynd piyvklekld imirlasqan iaqvlaelke
      361 yatevdvdfv rkavraigrc aikveqsaer cvstlldliq tkvnyvvqea ivvirdifrk
      421 ypnkyesiia tlcenldsld epdaraamiw ivgeyaerid nadellesfl egfhdestqv
      481 qltlltaivk lflkkpsetq elvqqvlsla tqdsdnpdlr drgyiywrll stdpvtakev
      541 vlsekplise etdlieptll delichigsl asvyhkppna fvegshgihr khlpihhgst
      601 dagdspvgtt tatnleqpqv ipsqgdllgd llnldlgppv nvpqvssmqm gavdllgggl
      661 dsllgsdlgg giggspavgq sfipssvpat fapsptpavv ssglndlfel stgigmapgg
      721 yvapkavwlp avkakgleis gtfthrqghi ymemnftnka lqhmtdfaiq fnknsfgvip
      781 stplaihtpl mpnqsidvsl plntlgpvmk meplnnlqvk skennwmdts grenanimek
      841 giqapfkvrk vavknnidvf yfscliplnv lfvedgkmer qvflatwkdi pnenelqfqi
      901 kechlnadtv ssklqnnnvy tiakrnvegq dmlyqslklt ngiwilaelr iqpgnpnytl
      961 slkcrapevs qyiyqvydsi lkn
//
LOCUS       XP_054174175             300 aa            linear   PRI 20-MAR-2023
DEFINITION  divergent protein kinase domain 1C isoform X1 [Homo sapiens].
ACCESSION   XP_054174175
VERSION     XP_054174175.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318200.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..300
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..300
                     /product="divergent protein kinase domain 1C isoform X1"
                     /calculated_mol_wt=32452
     CDS             1..300
                     /gene="DIPK1C"
                     /gene_synonym="C18orf51; FAM69C; FNCAD"
                     /coded_by="XM_054318200.1:50..952"
                     /db_xref="GeneID:125704"
                     /db_xref="HGNC:HGNC:31729"
                     /db_xref="MIM:614544"
ORIGIN      
        1 maraagargp agwcrrrgrc grgtllafaa wtagwvlaaa lllrahpgvl serctdeksr
       61 rilaalcqdy qggtlagdlc edlcvagkll fqrclhynrg kkvlqadwrg rpvvlkskee
      121 afssfpplsl leeeageggq dmpeaelllm vagevksalg lelsnsslgp wwpgrrgprw
      181 rgqlaslwal lqqeeyvyfs llqdlsphvl pvlgscghfy aveflaagsp hhralfpldr
      241 apgapgggqa kaisdialsf ldmvnhfdsd fshrlhlcdi kpenfairsd ftvsgagggy
//
LOCUS       XP_054174416             931 aa            linear   PRI 20-MAR-2023
DEFINITION  GPI ethanolamine phosphate transferase 1 isoform X6 [Homo sapiens].
ACCESSION   XP_054174416
VERSION     XP_054174416.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318441.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 40% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..931
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..931
                     /product="GPI ethanolamine phosphate transferase 1 isoform
                     X6"
                     /calculated_mol_wt=105658
     CDS             1..931
                     /gene="PIGN"
                     /gene_synonym="MCAHS; MCAHS1; MCD4; MDC4; PIG-N"
                     /coded_by="XM_054318441.1:246..3041"
                     /db_xref="GeneID:23556"
                     /db_xref="HGNC:HGNC:8967"
                     /db_xref="MIM:606097"
ORIGIN      
        1 mllfftlgll ihfvffasif diyftsplvh gmtpqftplp pparrlvlfv adglradaly
       61 eldengnsra pfirniimhe gswgishtrv ptesrpghva liagfyedvs avakgwkenp
      121 vefdslfnes kytwswgspd ilpmfakgas gdhvytysyd akredfgaqd atkldtwvfd
      181 nvkdffhhar nnqslfskin eekivfflhl lgidtnghah rpssrdykdn ikkvddgvke
      241 ivsmfnhfyg ndgkttfift sdhgmtdwgs hgaghpsetl tplvtwgagi kypqrvsaqq
      301 fddaflkewr lenwkrldvn qadiaplmts ligvpfplns vgilpvdyln ntdlfkaesm
      361 ftnavqileq fkvkmtqkke vtlpflftpf kllsdskqfn ilrkarsyik hrkfdevvsl
      421 ckelihlalk glsyyhtydr fflgvnvvig fvgwisyasl liikshsnli kgvskevkkp
      481 shllpcsfva igilvaffll iqacpwtyyv ygllplpiwy avlrefqviq dlvvsvltyp
      541 lshfvgylla ftlgievlvl sffyrymlta gltafaawpf ltrlwtrakm tslswtffsl
      601 llavfplmpv vgrkpdislv mgagllvlll slcvvtslmk rkdsfikeel lvhllqvlst
      661 vlsmyvvyst qssllrkqgl plmnqiiswa tlasslvvpl lsspvlfqrl fsillslmst
      721 ylllstgyea lfplvlsclm fvwinieqet lqqsgvcckq kltsiqfsyn tditqfrqly
      781 lddirraffl vfflvtaffg tgniasinsf dlasvycflt vfspfmmgal mmwkilipfv
      841 lvmcafeavq lttqlssksl flivlvisdi malhffflvk dygswldigt sishyvivms
      901 mtiflvflng laqllttkkl rlcgkpkshf m
//
LOCUS       XP_054174855             436 aa            linear   PRI 20-MAR-2023
DEFINITION  protein hinderin isoform X6 [Homo sapiens].
ACCESSION   XP_054174855
VERSION     XP_054174855.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054318880.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060942) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..436
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..436
                     /product="protein hinderin isoform X6"
                     /calculated_mol_wt=49127
     CDS             1..436
                     /gene="KIAA1328"
                     /coded_by="XM_054318880.1:7866..9176"
                     /db_xref="GeneID:57536"
                     /db_xref="HGNC:HGNC:29248"
                     /db_xref="MIM:616480"
ORIGIN      
        1 mslselgaar mqeqqvssrk stlqcssvel dgsylsiarp qtyyqtkqrp ksavqdsase
       61 sliafrnnsl kpvtlhhpkd dldkipsett tcncespgrk pavptekmpq eelhmkecph
      121 lkptpsqccg hrlaadrvhd shptnmtpqh pkthpescsy crlswaslvh gggalqpiet
      181 lkkqisedrk qqlmlqkmel eiekerlqhl laqqetklll kqqqlhqsrl dynwlraqal
      241 fksrelvaek qltkpqelkl dmngsdsgps llksncdgwl lgtsssikkh qdppnsgenr
      301 kerktvgfhs hmkddaqwsc qkkdtcrpqr gtvtgvrkda stspmptgsl kdfvttasps
      361 lqhttsryet slldlvqsls pnsapkpqry psreagawnh gtfrlsplks trkkmgmhrt
      421 peeleenqil ediffi
//
LOCUS       XP_054177290             609 aa            linear   PRI 20-MAR-2023
DEFINITION  transcriptional repressor p66-alpha isoform X9 [Homo sapiens].
ACCESSION   XP_054177290
VERSION     XP_054177290.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321315.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..609
                     /product="transcriptional repressor p66-alpha isoform X9"
                     /calculated_mol_wt=65166
     CDS             1..609
                     /gene="GATAD2A"
                     /gene_synonym="p66alpha"
                     /coded_by="XM_054321315.1:28..1857"
                     /db_xref="GeneID:54815"
                     /db_xref="HGNC:HGNC:29989"
                     /db_xref="MIM:614997"
ORIGIN      
        1 mteeacrtrs qkralerdpt eddveskkik mergllasdl ntdgdmrvtp epgagptqgl
       61 lrateatama mgrgeglvgd gpvdmrtshs dmkserrpps pdvivlsdne qpssprvngl
      121 ttvalketst ealmksspee rermikqlke elrleeaklv llkklrqsqi qkeataqkpt
      181 gsvgstvttp pplvrgtqni pagkpslqts sarmpgsvip pplvrggqqa ssklgpqass
      241 qvvmpplvrg aqqihsirqh sstgppplll aprasvpsvq iqgqriiqqg lirvanvpnt
      301 sllvnipqpt paslkgttat saqanstpts vasvvtsaes pasrqaaakl alrkqlektl
      361 leipppkppa pemnflpsaa nnefiylvgl eevvqnllet qagrmsaatv lsrepymcaq
      421 cktdftcrwr eeksgaimce ncmttnqkka lkvehtsrlk aafvkalqqe qeieqrllqq
      481 gtapaqakae ptaaphpvlk qassqlsrgs attprgvlht fspspklqns asatalvsrt
      541 grhsertvsa gkgsatsnwk ktplstggtl afvspslavh ksssavdrqr eylldmippr
      601 sipqsatwk
//
LOCUS       XP_054177764             591 aa            linear   PRI 20-MAR-2023
DEFINITION  protein KRI1 homolog isoform X2 [Homo sapiens].
ACCESSION   XP_054177764
VERSION     XP_054177764.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054321789.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..591
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..591
                     /product="protein KRI1 homolog isoform X2"
                     /calculated_mol_wt=69302
     CDS             1..591
                     /gene="KRI1"
                     /coded_by="XM_054321789.1:274..2049"
                     /db_xref="GeneID:65095"
                     /db_xref="HGNC:HGNC:25769"
ORIGIN      
        1 mylkdyerkv ilekagkyvd eensdgetsn hrlqetssqs yveeqkqlke sfrafvedse
       61 dedgageggs sllqkraktr qekaqeeady iewlkgqkei rnpdslkelt hlkeywndpe
      121 ldegerflrd yilnkryeee eeeeedeeem eeeegvhgpp vqlavddssd egelflkkqe
      181 dfeqkynfrf eepdsasvkt yprsiassvr rkderrkekr eetrerkkre kakkqeqlkq
      241 lknlkrkeil akleklrkvt gnemlgleeg dleddfdpaq hdqlmqkcfg deyygaveee
      301 kpqfeeeegl eddwnwdtwd gpeqegdwsq qelhcedpnf nmdadydpsq prkkkreapl
      361 tgkkkrkspf aaavgqekpv fepgdktfee yldeyyrldy ediiddlpcr fkyrtvvpcd
      421 fglsteeila addkelnrwc slkktcmyrs eqeelrdkra ysqkaqnswk krqvfkslcr
      481 eeaetpaeat gkpqrdeagp qrqlpaldgs lmgpesppaq eeeapvsphk kpapqkrrra
      541 kkarllgptv mlggcefsrq rlqafglnpk rlhfrqlgrq rrkqqgpkns p
//
LOCUS       XP_054178090             127 aa            linear   PRI 20-MAR-2023
DEFINITION  trafficking protein particle complex subunit 6A isoform X1 [Homo
            sapiens].
ACCESSION   XP_054178090
VERSION     XP_054178090.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322115.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..127
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..127
                     /product="trafficking protein particle complex subunit 6A
                     isoform X1"
                     /calculated_mol_wt=12844
     CDS             1..127
                     /gene="TRAPPC6A"
                     /gene_synonym="TRS33"
                     /coded_by="XM_054322115.1:20..403"
                     /db_xref="GeneID:79090"
                     /db_xref="HGNC:HGNC:23069"
                     /db_xref="MIM:610396"
ORIGIN      
        1 madtvlfefl htemvaelwa hdpdpgpgvs aglrgeeaga tkaapgdagl qggagcpqvl
       61 vqrpvgggvp eadgqpahqs pgdlrparqq lpppppdglw pavsggstqv pglhlrppar
      121 rplypgh
//
LOCUS       XP_054178558             689 aa            linear   PRI 20-MAR-2023
DEFINITION  dual specificity tyrosine-phosphorylation-regulated kinase 1B
            isoform X1 [Homo sapiens].
ACCESSION   XP_054178558
VERSION     XP_054178558.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322583.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..689
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..689
                     /product="dual specificity
                     tyrosine-phosphorylation-regulated kinase 1B isoform X1"
                     /calculated_mol_wt=74996
     CDS             1..689
                     /gene="DYRK1B"
                     /gene_synonym="AOMS3; MIRK"
                     /coded_by="XM_054322583.1:302..2371"
                     /db_xref="GeneID:9149"
                     /db_xref="HGNC:HGNC:3092"
                     /db_xref="MIM:604556"
ORIGIN      
        1 mlaarpphwg phrapaprgp raspdpglsg ggsrgagckk appgrapapg laplrpsept
       61 mavppghgpf sgfpgpqeht qvlpdvrllp rrlplafrda tsaplrklsv dliktykhin
      121 evyyakkkrr aqqappqdss nkkekkvlnh gydddnhdyi vrsgerwler yeidsligkg
      181 sfgqvvkayd hqtqelvaik iiknkkafln qaqielrlle lmnqhdtemk yyivhlkrhf
      241 mfrnhlclvf ellsynlydl lrnthfrgvs lnltrklaqq lctallflat pelsiihcdl
      301 kpenillcnp krsaikivdf gsscqlgqri yqyiqsrfyr spevllgtpy dlaidmwslg
      361 cilvemhtge plfsgsnevd qmnrivevlg ippaamldqa pkarkyferl pgggwtlrrt
      421 kelrkdyqgp gtrrlqevlg vqtggpggrr agepghspad ylrfqdlvlr mleyepaari
      481 splgalqhgf frrtadeatn tgpagssast spapldtcps sstassisss ggssgsssdn
      541 rtyrysnryc ggpgppitdc emnspqvpps qplrpwaggd vphkthqapa sasslpgtga
      601 qlppqprylg rppsptsppp pelmdvslvg gpadcspphp apapqhpaas alrtrmtggr
      661 pplpppddpa tlgphlglrg vpqstaass
//
LOCUS       XP_054196592             308 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclic AMP-responsive element-binding protein 1 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054196592
VERSION     XP_054196592.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340617.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..308
                     /product="cyclic AMP-responsive element-binding protein 1
                     isoform X4"
                     /calculated_mol_wt=32429
     CDS             1..308
                     /gene="CREB1"
                     /gene_synonym="CREB; CREB-1"
                     /coded_by="XM_054340617.1:182..1108"
                     /db_xref="GeneID:1385"
                     /db_xref="HGNC:HGNC:2345"
                     /db_xref="MIM:123810"
ORIGIN      
        1 mtmesgaenq qsgdaavtea enqqmtvqaq pqiatlaqvs mpaahatssa ptvtlvqlpn
       61 gqtvqvhgvi qaaqpsviqs pqvqtvqssc kdlkrlfsgt qistiaesed sqesvdsvtd
      121 sqkrreilsr rpsyrkilnd lssdapgvpr ieeekseeet sapaittvtv ptpiyqtssg
      181 qyiaitqgga iqlanngtdg vqglqtltmt naaatqpgtt ilqyaqttdg qqilvpsnqv
      241 vvqaasgdvq tyqirtapts tiapgvvmas spalptqpae eaarkrevrl mknrfmttat
      301 nklgtght
//
LOCUS       XP_054196667             872 aa            linear   PRI 20-MAR-2023
DEFINITION  GRB2-associated and regulator of MAPK protein 2 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054196667
VERSION     XP_054196667.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054340692.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..872
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..872
                     /product="GRB2-associated and regulator of MAPK protein 2
                     isoform X1"
                     /calculated_mol_wt=92748
     CDS             1..872
                     /gene="GAREM2"
                     /gene_synonym="FAM59B; GAREML"
                     /coded_by="XM_054340692.1:579..3197"
                     /db_xref="GeneID:150946"
                     /db_xref="HGNC:HGNC:27172"
                     /db_xref="MIM:617999"
ORIGIN      
        1 mitavcpcgc edgartqdss qrreqswrra swapggeyae gvserdilli hscrqwttvt
       61 ahtleeghyv igpkidiplq ypgkfklleq ardvrepvry fssveevasv fpdrifvmea
      121 itfsvkvvsg efsedsevyn ftlhagdelt lmgqaeilca kttkersrft tllrklgrag
      181 alagvggggp asagaaggtg gggarpvkgk mpclicmnhr tneslslpfq cqgrfstrsp
      241 lelqmqegeh tvraiiervr lpvnvlvpsr pprnpydlhp vreghcyklv siisktvvlg
      301 lalrregpap lhfllltdtp rfalpqglla gdprverlvr dsasycrerf dpdeystavr
      361 eapaelaedc asprrarlcl paprapglar apgplapapa gegdreyvsp dwaaapepaa
      421 ppaeipyeel wahqgpeglv rpppgldlis fgaagpprre peappppvpp kseavkeecr
      481 llnappvppr ggngsgrlss sppvpprfpk lqpvhspsss lsyyssglqd gagsrsgsgs
      541 pspdtyslyc ypctwgdckv gesssrpapg plpsttqpsq asraltepls graasllgad
      601 tpvktyhscp plfkpshpqk rfapfgalnp fsgpaypsgp saalssgprt tsgpvatsgp
      661 ayspgpaspg qaysaappss capsssssse wqepvlepfd pfelgqgssp epellrsqep
      721 ravgtpgpgp rlsplgpska fepeglvlhq vptplspaal qgpeaggalf ltqgrlegpp
      781 asprdgatgf gvrdasswqp padlsalsle evsrslrfig lsedvvsffa reridgsifv
      841 qlsediladd fhltklqvkk imqfikgwrp ki
//
LOCUS       XP_054197356             431 aa            linear   PRI 20-MAR-2023
DEFINITION  vitamin K-dependent gamma-carboxylase isoform X4 [Homo sapiens].
ACCESSION   XP_054197356
VERSION     XP_054197356.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341381.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..431
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..431
                     /product="vitamin K-dependent gamma-carboxylase isoform
                     X4"
                     /calculated_mol_wt=49468
     CDS             1..431
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /coded_by="XM_054341381.1:66..1361"
                     /db_xref="GeneID:2677"
                     /db_xref="HGNC:HGNC:4247"
                     /db_xref="MIM:137167"
ORIGIN      
        1 mavsagsart spssdkvqkd kaelisgprq dsrigkllgf ewtdlsswrr lvtllnrptd
       61 paslavfrfl fgflmvldip qerglssldr kyldgldvcr fplldalrpl pldwmylvyt
      121 imflgalgmm lglcyriscv lfllpywyvf lldktswnnh sylygllafq ltfmdanhyw
      181 svdgllnahr rnahvplwny avlrgqifiv yfiagvkkld adwvegysme ylsrhwlfsp
      241 fklllseelt sllvvhwggl lldlsagfll ffdvsrsigl ffvsyfhcmn sqlfsigmfs
      301 yvmlassplf cspewprklv sycprrlqql lplkaapqps vscvykrsrg ksgqkpglrh
      361 qlgaaftlly lleqlflpys hfltqgynnw tnglygyswd mmvhsrshqh vkityrdgrt
      421 gelgylnpgd f
//
LOCUS       XP_054197938             769 aa            linear   PRI 20-MAR-2023
DEFINITION  sodium/hydrogen exchanger 4 isoform X1 [Homo sapiens].
ACCESSION   XP_054197938
VERSION     XP_054197938.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054341963.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..769
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..769
                     /product="sodium/hydrogen exchanger 4 isoform X1"
                     /calculated_mol_wt=86245
     CDS             1..769
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /coded_by="XM_054341963.1:535..2844"
                     /db_xref="GeneID:389015"
                     /db_xref="HGNC:HGNC:11077"
                     /db_xref="MIM:600531"
ORIGIN      
        1 malqmfvtys pwncllllva lecseassdl nesanstaqy asnawfaaas sepeegisvf
       61 eldydyvqip yevtlwilla slakigfhly hrlpglmpes cllilvgalv ggiifgtdhk
      121 sppvmdssiy flyllppivl eggyfmptrp ffenigsilw wavlgalina lgiglslyli
      181 cqvkafglgd vnllqnllfg slisavdpva vlavfeearv neqlymmifg eallndgitv
      241 vlynmliaft kmhkfediet vdilagcarf ivvglggvlf givfgfisaf itrftqnisa
      301 ieplivfmfs ylsylaaetl ylsgilaita cavtmkkyve envsqtsytt ikyfmkmlss
      361 vsetlififm gvfalfyisn qfrtfpfsik dqciifysgv rgagsfslaf llplslfprk
      421 kmfvtatlvv iyftvfiqgi tvgplvryld vkktnkkesi neelhirlmd hlkagiedvc
      481 ghwshyqvrd kfkkfdhryl rkilirknlp kssivslykk lemkqaiemv etgilsstaf
      541 siphqaqriq gikrlspedv esirdiltsn myqvrqrtls ynkynlkpqt sekqakeili
      601 rrqntlresm kkghslpwgk pagtkniryl sypygnpqsa grdtraagfs dddssdpgsp
      661 sitfsacsri gslqkqeaqe iipmkslhrg rkafsfgyqr ntsqeeylgg vrrvalrpkp
      721 lfhavdeege sggesegkas lvevrsrwta dhghgrdhhr shspllqkk
//
LOCUS       XP_054198112            1127 aa            linear   PRI 20-MAR-2023
DEFINITION  unconventional myosin-Ib isoform X4 [Homo sapiens].
ACCESSION   XP_054198112
VERSION     XP_054198112.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342137.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1127
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1127
                     /product="unconventional myosin-Ib isoform X4"
                     /calculated_mol_wt=130687
     CDS             1..1127
                     /gene="MYO1B"
                     /gene_synonym="MMI-alpha; MMIa; MYH-1c; myr1"
                     /coded_by="XM_054342137.1:287..3670"
                     /db_xref="GeneID:4430"
                     /db_xref="HGNC:HGNC:7596"
                     /db_xref="MIM:606537"
ORIGIN      
        1 mqskeerlts wgrrgselet makmevktsl ldnmigvgdm vlleplneet finnlkkrfd
       61 hseiytyigs vvisvnpyrs lpiyspekve eyrnrnfyel sphifalsde ayrslrdqdk
      121 dqcilitges gagkteaskl vmsyvaavcg kgaevnqvke qllqsnpvle afgnaktvrn
      181 dnssrfgkym diefdfkgdp lggvisnyll eksrvvkqpr gernfhvfyq llsgaseell
      241 nklklerdfs rynylsldsa kvngvddaan frtvrnamqi vgfmdheaes vlavvaavlk
      301 lgniefkpes rvngldeski kdknelkeic eltgidqsvl erafsfrtve akqekvsttl
      361 nvaqayyard alaknlysrl fswlvnrine sikaqtkvrk kvmgvldiyg feifednsfe
      421 qfiinycnek lqqifieltl keeqeeyire diewthidyf nnaiicdlie nntngilaml
      481 deeclrpgtv tdetflekln qvcathqhfe srmskcsrfl ndtslphscf riqhyagkvl
      541 yqvegfvdkn ndllyrdlsq amwkashali kslfpegnpa kinlkrppta gsqfkasvat
      601 lmknlqtknp nyircikpnd kkaahifnea lvchqirylg llenvrvrra gyafrqayep
      661 clerykmlck qtwphwkgpa rsgvevlfne leipveeysf grskifirnp rtlfkledlr
      721 kqrledlatl iqkiyrgwkc rthfllmkks qiviaawyrr yaqqkryqqt kssalviqsy
      781 irgwkarkil relkhqkrck eavttiaayw hgtqarrelr rlkeearnkh aiaviwaywl
      841 gskvrreyrk ffranagkki yeftlqrivq kyflemknkm pslspidknw psrpylflds
      901 thkelkrifh lwrckkyrdq ftdqqkliye ekleaselfk dkkalypssv gqpfqgayle
      961 inknpkykkl kdaieekiii aevvnkinra ngkstsrifl ltnnnlllad qksgqiksev
     1021 plvdvtkvsm ssqndgffav hlkegseaas kgdflfssdh liematklyr ttlsqtkqkl
     1081 nieisdeflv qfrqdkvcvk fiqgnqkngs vptckrknnr llevavp
//
LOCUS       XP_054200590             588 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear body protein SP140-like protein isoform X1 [Homo sapiens].
ACCESSION   XP_054200590
VERSION     XP_054200590.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344615.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..588
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..588
                     /product="nuclear body protein SP140-like protein isoform
                     X1"
                     /calculated_mol_wt=67731
     CDS             1..588
                     /gene="SP140L"
                     /coded_by="XM_054344615.1:78..1844"
                     /db_xref="GeneID:93349"
                     /db_xref="HGNC:HGNC:25105"
                     /db_xref="MIM:617747"
ORIGIN      
        1 magggsdlst rglnggvsqv anemnhlpah sqslqrlfte dqdvdeglvy dtvfkhfkrh
       61 kleisnaikk tfpfleglrd relitnkmfe dsedscrnlv pvqrvvynvl selektfnls
      121 vlealfsevn mqeypdlihi yksfknaiqd klsfqesdrk ereerpdikl slkqerpace
      181 nekcsyvmcf sgevpespea rkesdqacgk mdtvdianns tlgkpkrkrr kkkghgwsrm
      241 gtrtqknnqq ndnskadgql vssekkanmn lkdlskirgr krgkpgthft qsdrapqkrv
      301 rsrasrkhkd etvdfqapll pvtcggvkgi lhkekleqgt lakciqtedg kwftpmefei
      361 kggyarsknw rlsvrcggwp lrrlmeegsl pnppriyyrn kkrilksqnn ssvdpcmrnl
      421 decevcrdgg elfccdtcsr vfhedchipp vesekmkesp gsqqccqese vlerqmcpee
      481 qlkceflllk vyccsessff akipyyyyir eacqglkepm wldkikkrln ehgypqvegf
      541 vqdmrlifqn hrasykykdf gqmglrleae fekdfkevfa iqetngns
//
LOCUS       XP_054180144             573 aa            linear   PRI 20-MAR-2023
DEFINITION  breast carcinoma-amplified sequence 1 isoform X6 [Homo sapiens].
ACCESSION   XP_054180144
VERSION     XP_054180144.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054324169.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060944) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..573
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..573
                     /product="breast carcinoma-amplified sequence 1 isoform
                     X6"
                     /calculated_mol_wt=60373
     CDS             1..573
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /coded_by="XM_054324169.1:168..1889"
                     /db_xref="GeneID:8537"
                     /db_xref="HGNC:HGNC:974"
                     /db_xref="MIM:602968"
ORIGIN      
        1 mgnqmsvpqr vedqenepea etyqdnasal ngvpvvvsth tvqhleevdl gisvktdnva
       61 tsspetteis avadangknl gkeakpeapa aksrfflmls rpvpgrtgdq aadsslgsvk
      121 ldvssnkapa nkdpseswtl pvaagpgqdt dktpghapaq dkvlsaardp tllppetgga
      181 ggeapskpkd ssffdkffkl dkgqekvpgd sqqeakraeh qdkvdevpgl sgqsddvpag
      241 kdivdgkeke gqelgtadcs vpgdpeglet akddsqaaai aennnsimsf fktlvspnka
      301 etkkdpedta skaesvcdgq agqktseiqa rgtkkkhlds prlglafrkf frhkgaeksp
      361 ttsadlksdk anftsqetqg agknskgcnp sghtqsvttp epakegtkek sgptslplgk
      421 lfwkksvked svptgaeens vkgdggiths eeingkdssc qtsdstekti tppepeptga
      481 pqkgkegssk dkksaaemnk qksnkqeake paqcteqatv dtnslqngdk lqkrpekrqq
      541 slggffkglg pkrmldaqvq tdpvsigpvg kpk
//
LOCUS       XP_054201780             980 aa            linear   PRI 20-MAR-2023
DEFINITION  FERM domain-containing protein 4B isoform X5 [Homo sapiens].
ACCESSION   XP_054201780
VERSION     XP_054201780.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345805.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..980
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..980
                     /product="FERM domain-containing protein 4B isoform X5"
                     /calculated_mol_wt=111500
     CDS             1..980
                     /gene="FRMD4B"
                     /gene_synonym="6030440G05Rik; GRSP1"
                     /coded_by="XM_054345805.1:855..3797"
                     /db_xref="GeneID:23150"
                     /db_xref="HGNC:HGNC:24886"
                     /db_xref="MIM:617467"
ORIGIN      
        1 mtegrhcqvh llddrrlell vqpkllarel ldlvashfnl kekeyfgitf iddtgqqnwl
       61 qldhrvldhd lpkkpgptil hfavrfyies isflkdkttv elfflnakac vhkgqieves
      121 etifklaafi lqeakgdyts denarkdlkt lpafptktlq ehpslayced rviehylkik
      181 gltrgqavvq ymkivealpt ygvhyyavkd kqglpwwlgi sykgigqydi qdkvkprklf
      241 qwkqlenlyf rekkfavevh dprrisvsrr tfgqsglfvq twyansslik siwvmaisqh
      301 qfyldrkqsk akipsarsld eiamdltetg tqrasklvtl eaksqfimas ngslissgsq
      361 dsevseeqkr ekilelkkke kllqekllkk veelkkiclr eaeltgkmpk eyplnigekp
      421 pqvrrrvgta fklddnllps eedpalqele snfliqqklv eaakklanep dlcktvkkkr
      481 kqdytdamkk lqeienaine yrircgkkps qkatvlpedi ipsessslsd tttyddpsda
      541 ftfpgqrsss vphsprilpp kslgierihf rkssineqfv dtrqsremls thsspyktle
      601 rrpqggrsmp ttpvltrnay ssshlepess sqhcrqrsgs lesqshllse mdsdkpffsl
      661 sksqrssste ilddgssyts qssteyycvt pvtgpyyttq tldtrtrgrr rskkqnvsts
      721 nsgsmpnlaq kdslrngvys ksqeppsssy yiagytpyae cdfyysggyv yendtegqys
      781 vnpsyrssah ygyerqrdys rsfhedevdr vphnpyatlr lprkaaakse hitknihkal
      841 vaehlrgwyq rasgqkdqgh spqtsfdsdr gsqrclgfag lqvpcspssr aslyssvsst
      901 nasgnwrtql tiglsdyetp ahssytscyg nvynplpsps rqyteisqld gtdgnqledn
      961 lesseqrlfw hedskpgtlv
//
LOCUS       XP_054203673             461 aa            linear   PRI 20-MAR-2023
DEFINITION  thyroid hormone receptor beta isoform X1 [Homo sapiens].
ACCESSION   XP_054203673
VERSION     XP_054203673.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347698.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..461
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..461
                     /product="thyroid hormone receptor beta isoform X1"
                     /calculated_mol_wt=52657
     CDS             1..461
                     /gene="THRB"
                     /gene_synonym="C-ERBA-2; C-ERBA-BETA; ERBA2; GRTH; NR1A2;
                     PRTH; THR1; THRB1; THRB2; THRbeta; THRbeta1; Thrbeta2;
                     TRb; TRbeta; TRbeta1"
                     /coded_by="XM_054347698.1:804..2189"
                     /db_xref="GeneID:7068"
                     /db_xref="HGNC:HGNC:11799"
                     /db_xref="MIM:190160"
ORIGIN      
        1 mtpnsmteng ltawdkpkhc pdrehdwklv gmseaclhrk shserrstlk neqssphliq
       61 ttwtssifhl dhddvndqsv ssaqtfqtee kkckgyipsy ldkdelcvvc gdkatgyhyr
      121 citcegckgf frrtiqknlh psysckyegk cvidkvtrnq cqecrfkkci yvgmatdlvl
      181 ddskrlakrk lieenrekrr reelqksigh kpeptdeewe liktvteahv atnaqgshwk
      241 qkrkflpedi gqapivnape ggkvdleafs hftkiitpai trvvdfakkl pmfcelpced
      301 qiillkgccm eimslraavr ydpesetltl ngemavtrgq lkngglgvvs daifdlgmsl
      361 ssfnlddtev allqavllms sdrpglacve riekyqdsfl lafehyinyr khhvthfwpk
      421 llmkvtdlrm igachasrfl hmkvecptel fpplflevfe d
//
LOCUS       XP_054204300             344 aa            linear   PRI 20-MAR-2023
DEFINITION  C-C chemokine receptor-like 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054204300
VERSION     XP_054204300.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054348325.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..344
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..344
                     /product="C-C chemokine receptor-like 2 isoform X1"
                     /calculated_mol_wt=39382
     CDS             1..344
                     /gene="CCRL2"
                     /gene_synonym="ACKR5; CKRX; CRAM; CRAM-A; CRAM-B; HCR"
                     /coded_by="XM_054348325.1:224..1258"
                     /db_xref="GeneID:9034"
                     /db_xref="HGNC:HGNC:1612"
                     /db_xref="MIM:608379"
ORIGIN      
        1 manytlaped eydvliegel esdeaeqcdk ydaqalsaql vpslcsavfv igvldnllvv
       61 lilvkykglk rveniyllnl avsnlcfllt lpfwahaggd pmckiligly fvglysetff
      121 nclltvqryl vflhkgnffs arrrvpcgii tsvlawvtai latlpefvvy kpqmedqkyk
      181 cafsrtpflp adetfwkhfl tlkmnisvlv lplfiftfly vqmrktlrfr eqryslfklv
      241 faimvvfllm wapyniaffl stfkehfsls dckssynldk svhitkliat thccinplly
      301 afldgtfsky lcrcfhlrsn tplqprgqsa qgtsreepdh stev
//
LOCUS       XP_054205083             337 aa            linear   PRI 20-MAR-2023
DEFINITION  ras association domain-containing protein 6 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054205083
VERSION     XP_054205083.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349108.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..337
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..337
                     /product="ras association domain-containing protein 6
                     isoform X2"
                     /calculated_mol_wt=39683
     CDS             1..337
                     /gene="RASSF6"
                     /coded_by="XM_054349108.1:298..1311"
                     /db_xref="GeneID:166824"
                     /db_xref="HGNC:HGNC:20796"
                     /db_xref="MIM:612620"
ORIGIN      
        1 mtmmahqyps wifinektfi treqlnsllk tynifyenqk nlhilygete dgklivegml
       61 difwgvkrpi qlkiqdekpf ssftsmkssd vfsskgmtrw gefddlyris eldrtqipms
      121 ekrnsqedyl pyhsntlkph akdepdspvl yrtmseaalv rkrmkplmmd rkerqknras
      181 inghfynhet sifipafese tkvrvnsnmr teevikqllq kfkienspqd falhiifatg
      241 eqrrlkktdi pllqrllqgp seknariflm dkdaeeissd vaqyinfhfs llesilqrln
      301 eeekreiqri vtkfnkekai ilkclqnklv iktettv
//
LOCUS       XP_054205119             494 aa            linear   PRI 20-MAR-2023
DEFINITION  afamin isoform X1 [Homo sapiens].
ACCESSION   XP_054205119
VERSION     XP_054205119.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349144.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..494
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..494
                     /product="afamin isoform X1"
                     /calculated_mol_wt=56973
     CDS             1..494
                     /gene="AFM"
                     /gene_synonym="ALB2; ALBA; ALF"
                     /coded_by="XM_054349144.1:32..1516"
                     /db_xref="GeneID:173"
                     /db_xref="HGNC:HGNC:316"
                     /db_xref="MIM:104145"
ORIGIN      
        1 mkllkltgfi fflffltesl tlptqprdie nfnstqkfie dnieyitiia faqyvqeatf
       61 eemeklvkdm veykdrcmad ktlpecsklp nnvlqekica meglpqkhnf shccskvdaq
      121 rrlcffynkk sdvgflppfp tldpeekcqa yesnreslln hflyevarrn pfvfaptllt
      181 vavhfeevak scceeqnkvn clqtraipvt qylkafssyq khvcgallkf gtkvvhfiyi
      241 ailsqkfpki efkelislve dvssnydgcc egdvvqcird tskvmnhics kqdsisskik
      301 eccekkiper gqciinsnkd drpkdlslre gkftdsenvc qerdadpdtf fakftfeysr
      361 rhpdlsipel lrivqiykdl lrnccntenp pgcyryaedk fnettekslk mvqqeckhfq
      421 nlgkdglkyh ylirltkiap qlsteelvsl gekmvtaftt cctlseefac vdnltcvnlr
      481 mrsfrgrqtg flst
//
LOCUS       XP_054205617            1479 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat domain-containing protein 17 isoform X12 [Homo
            sapiens].
ACCESSION   XP_054205617
VERSION     XP_054205617.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054349642.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1479
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1479
                     /product="ankyrin repeat domain-containing protein 17
                     isoform X12"
                     /calculated_mol_wt=156040
     CDS             1..1479
                     /gene="ANKRD17"
                     /gene_synonym="CAGS; GTAR; MASK2; NY-BR-16"
                     /coded_by="XM_054349642.1:131..4570"
                     /db_xref="GeneID:26057"
                     /db_xref="HGNC:HGNC:23575"
                     /db_xref="MIM:615929"
ORIGIN      
        1 mekatvpvaa ataaegegsp pavaavagpp aaaevgggvg gssrarsass prgmvrvcdl
       61 llkkkppqqq hhkakrnrtc rppsssesss dsdnsggggg gggggggggg tssnnseeee
      121 ddddeeeevs evesfildqd dlenpmleta sklllsgtad gadlrtvdpe tqarlealle
      181 aagigklsta dgkafadpev lrrltssvsc aldeaaaalt rmraestana gqsdnrslae
      241 acsegdvnav rklliegrsv nehteegesl lclacsagyy elaqvllamh anvedrgikg
      301 ditplmaaan gghvkivkll lahkadvnaq sstgntalty acaggyvdvv kvllesgasi
      361 edhnenghtp lmeagsaghv evarllleng aginthsnef kesaltlacy kghlemvrfl
      421 leagadqehk tdemhtalme acmdghveva rllldsgaqv nmpadsfesp ltlaacgghv
      481 elaallierg asleevndeg ytplmeaare gheemvalll gqganinaqt eetqetaltl
      541 accggfleva dflikagadi elgcstplme aaqeghlelv kyllaaganv hattatgdta
      601 ltyacenght dvadvllqag adlehesegg rtplmkaara ghvctvqfli skganvnrtt
      661 anndhtvlsl acagghlavv elllahgadp thrlkdgstm lieaakgght svvcylldyp
      721 nnllsapppd vtqltppshd lnraprvpvq alpmvvppqe pdkppanvat tlpirnkaas
      781 kqkssshlpa nsqdvqgyit nqspesivee aqgklteleq rikeaiekna qlqslelaha
      841 dqltkekiee lnktreeqiq kkqkileelq kverelqlkt qqqlkkqyle vkaqriqlqq
      901 qqqqscqhlg lltpvgvgeq lsegdyarlq qvdpvllkde pqqtaaqmgf apiqplampq
      961 alplaagplp pgsianltel qgvivgqpvl gqaqlaglgq giltetqqgl mvaspaqtln
     1021 dtlddimavs grasamsntp thsiaasisq pqtptpspii spsamlpiyp aididaqtes
     1081 nhdtaltlac aggheelvqt llergasieh rdkkgftpli laataghvgv veilldngad
     1141 ieaqsertkd tplslacsgg rqevvellla rgankehrnv sdytplslaa sggyvniiki
     1201 llnagaeins rtgsklgisp lmlaamnght aavkllldmg sdinaqietn rntaltlacf
     1261 qgrtevvsll ldrkanvehr aktgltplme aasggyaevg rvlldkgadv nappvpssrd
     1321 taltiaadkg hykfcellig rgahidvrnk kgntplwlaa ngghldvvql lvqagadvda
     1381 adnrkitplm aafrkghvkv vrylvkevnq fpsdsecmry iatitdkeml kkchlcmesi
     1441 vqakdrqaae anknasille eldlekadyn iipiyshge
//
LOCUS       XP_054206646             703 aa            linear   PRI 20-MAR-2023
DEFINITION  relaxin receptor 1 isoform X6 [Homo sapiens].
ACCESSION   XP_054206646
VERSION     XP_054206646.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054350671.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..703
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..703
                     /product="relaxin receptor 1 isoform X6"
                     /calculated_mol_wt=80978
     CDS             1..703
                     /gene="RXFP1"
                     /gene_synonym="LGR7; RXFPR1"
                     /coded_by="XM_054350671.1:141..2252"
                     /db_xref="GeneID:59350"
                     /db_xref="HGNC:HGNC:19718"
                     /db_xref="MIM:606654"
ORIGIN      
        1 mtsqypfeae tpecsfhffl fitllflvph chhalplpld svvgsvpvqc lcqgleldcd
       61 etnlravpsv ssnvtamslq wnlirklppd cfknyhdlqk lylqnnkits isiyafrgln
      121 sltklylshn ritflkpgvf edlhrlewli iednhlsris pptfyglnsl illvlmnnvl
      181 trlpdkplcq hmprlhwldl egnhihnlrn ltfiscsnlt vlvmrknkin hlnentfapl
      241 qkldeldlgs nkienlppli fkdlkelsql nlsynpiqki qanqfdylvk lkslslegie
      301 isniqqrmfr plmnlshiyf kkfqycgyap hvrsckpntd gisslenlla siiqrvfvwv
      361 vsavtcfgni fvicmrpyir senklyamsi islccadclm giylfviggf dlkfrgeynk
      421 haqlwmesth cqlvgslail stevsvlllt fltlekyici vypfrcvrpg kcrtitvlil
      481 iwitgfivaf iplsnkeffk nyygtngvcf plhsedtesi gaqiysvaif lginlaafii
      541 ivfsygsmfy svhqsaitat eirnqvkkem ilakrfffiv ftdalcwipi fvvkflsllq
      601 veipgtitsw vvifilpins alnpilytlt trpfkemihr fwynyrqrks mdskgqktya
      661 psfiwvemwp lqemppelmk pdlftypcem slisqstrln sys
//
LOCUS       XP_054207173             411 aa            linear   PRI 20-MAR-2023
DEFINITION  LIM domain-binding protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054207173
VERSION     XP_054207173.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351198.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..411
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..411
                     /product="LIM domain-binding protein 2 isoform X1"
                     /calculated_mol_wt=46977
     CDS             1..411
                     /gene="LDB2"
                     /gene_synonym="CLIM1; LDB-2; LDB1"
                     /coded_by="XM_054351198.1:161..1396"
                     /db_xref="GeneID:9079"
                     /db_xref="HGNC:HGNC:6533"
                     /db_xref="MIM:603450"
ORIGIN      
        1 msstphdpfy sspfgpfyrr htpymvqpey riyemnkrlq srtedlymas enqlchiign
       61 yddddddddd tlildsiskl nndsdnlwwd afateffedd atltlsfcle dgpkrytigr
      121 tlipryfstv feggvtdlyy ilkhskesyh nssitvdcdq ctmvtqhgkp mftkvctegr
      181 lileftfddl mriktwhfti rqyrelvprs ilamhaqdpq vldqlsknit rmgltnftln
      241 ylrlcvilep mqelmsrhkt ynlsprdclk tclfqkwqrm vappaeptrq pttkrrkrkn
      301 stsstsnssa gnnanstgsk kkttaanlsl ssqvpdvmvv geptlmggef gdederlitr
      361 lentqydaan gmddeedfnn spalgnnspw nskppatqet ksenpppqas q
//
LOCUS       XP_054208347             359 aa            linear   PRI 20-MAR-2023
DEFINITION  hepatitis A virus cellular receptor 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054208347
VERSION     XP_054208347.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054352372.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..359
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..359
                     /product="hepatitis A virus cellular receptor 1 isoform
                     X3"
                     /calculated_mol_wt=38543
     CDS             1..359
                     /gene="HAVCR1"
                     /gene_synonym="CD365; HAVCR; HAVCR-1; KIM-1; KIM1; TIM;
                     TIM-1; TIM1; TIMD-1; TIMD1"
                     /coded_by="XM_054352372.1:304..1383"
                     /db_xref="GeneID:26762"
                     /db_xref="HGNC:HGNC:17866"
                     /db_xref="MIM:606518"
ORIGIN      
        1 mhpqvvilsl ilhladsvag svkvggeagp svtlpchysg avtsmcwnrg scslftcqng
       61 ivwtngthvt yrkdtrykll gdlsrrdvsl tientavsds gvyccrvehr gwfndmkitv
      121 sleivppkvt ttpivttvpt vttvrtsttv pttttvpttt vpttmsiptt ttvpttmtvs
      181 tttsvpttts iptttsvpvt tavstfvppm plprqnhepv atspsspqpa ethpttlqga
      241 irreptsspl ysyttdgndt vtessdglwn nnqtqlfleh slltanttkg iyagvcisvl
      301 vllallgvii akkyffkkev qqlsvsfssl qikalqnave kevqaedniy ienslyatd
//
LOCUS       XP_054209259             263 aa            linear   PRI 20-MAR-2023
DEFINITION  survival motor neuron protein isoform X15 [Homo sapiens].
ACCESSION   XP_054209259
VERSION     XP_054209259.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353284.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..263
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..263
                     /product="survival motor neuron protein isoform X15"
                     /calculated_mol_wt=28421
     CDS             1..263
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3;
                     SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /coded_by="XM_054353284.1:164..955"
                     /db_xref="GeneID:6606"
                     /db_xref="HGNC:HGNC:11117"
                     /db_xref="MIM:600354"
ORIGIN      
        1 mamssggsgg gvpeqedsvl frrgtgqsdd sdiwddtali kaydkavasf khalkngdic
       61 etsgkpkttp krkpakknks qkkntaaslq qwkvgdkcsa iwsedgciyp atiasidfkr
      121 etcvvvytgy gnreeqnlsd llspicevan nieqnaqene nesqvstdes ensrspgnks
      181 dnikpksapw nsflpppppm pgprlgpgki ipppppicpd slddadalgs mliswymsgy
      241 htgyymfpea slkaeqmpap cfl
//
LOCUS       XP_054210256             338 aa            linear   PRI 20-MAR-2023
DEFINITION  parkin coregulated gene protein isoform X1 [Homo sapiens].
ACCESSION   XP_054210256
VERSION     XP_054210256.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054354281.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..338
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..338
                     /product="parkin coregulated gene protein isoform X1"
                     /calculated_mol_wt=38051
     CDS             1..338
                     /gene="PACRG"
                     /gene_synonym="GLUP; HAK005771; PACRG2.1; PARK2CRG"
                     /coded_by="XM_054354281.1:263..1279"
                     /db_xref="GeneID:135138"
                     /db_xref="HGNC:HGNC:19152"
                     /db_xref="MIM:608427"
ORIGIN      
        1 mvaeketlsl nkcpdkmpkr tkllaqqplp vhqphslvse gftvkammkn svvrgppaag
       61 afkerptkpt afrkfyergd fpialehdsk gnkiawkvei ekldyhhylp lffdglcemt
      121 fpyeffarqg ihdmlehggn kilpvlpqli ipiknalnlr nrqvicvtlk vlqhlvvsae
      181 mvgkalvpyy rqilpvlnif knmngpfkgg erqklsltgw rslsvplrnp sqgwvvrgrp
      241 rrraaspwgh lqaaregssc qvrsraqppr pprtprhvpl spqrvasspr lfkqfcwrwp
      301 phlpgptahp grgtlvsapc htcgllspnr kllekcss
//
LOCUS       XP_054213501             286 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger and SCAN domain-containing protein 25 isoform X2 [Homo
            sapiens].
ACCESSION   XP_054213501
VERSION     XP_054213501.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357526.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..286
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..286
                     /product="zinc finger and SCAN domain-containing protein
                     25 isoform X2"
                     /calculated_mol_wt=32249
     CDS             1..286
                     /gene="ZSCAN25"
                     /gene_synonym="ZNF498"
                     /coded_by="XM_054357526.1:218..1078"
                     /db_xref="GeneID:221785"
                     /db_xref="HGNC:HGNC:21961"
ORIGIN      
        1 mlkehpemae apqqqlgipv vklekelpwg rgredpspet frlrfrqfry qeaagpqeal
       61 relqelcrrw lrpelhtkeq ilellvleqf ltilprefya wirehgpesg kalaamvedl
      121 teraleakav pchrqgeqee talcrgawep giqlgpvevk pewgmppgeg vqgpdpgtee
      181 qlsqdpgdet rafqeqalpv lqagpglpav nprdqemaag fftagsqglg pfkdmalafp
      241 eeewrhvtpa qidcfgeyve pqdcrvspew lpqclkkktl knknyg
//
LOCUS       XP_054213862             243 aa            linear   PRI 20-MAR-2023
DEFINITION  thiamin pyrophosphokinase 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054213862
VERSION     XP_054213862.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357887.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..243
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..243
                     /product="thiamin pyrophosphokinase 1 isoform X1"
                     /calculated_mol_wt=27134
     CDS             1..243
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /coded_by="XM_054357887.1:263..994"
                     /db_xref="GeneID:27010"
                     /db_xref="HGNC:HGNC:17358"
                     /db_xref="MIM:606370"
ORIGIN      
        1 mehaftplep llstgnlkyc lvilnqpldn yfrhlwnkal lracadggan rlyditeger
       61 esflpefing dfdsirpevr eyyatkgcel istpdqdhtd ftkclkmlqk kieekdlkvd
      121 vivtlgglag rfdqimasvn tlfqathitp fpiiiiqees liyllqpgkh rlhvdtgmeg
      181 dwcglipvgq pcmqvtttgl kwnltndvla fgtlvstsnt ydgsgvvtve tdhpllwtma
      241 iks
//
LOCUS       XP_054213961             419 aa            linear   PRI 20-MAR-2023
DEFINITION  eIF5-mimic protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054213961
VERSION     XP_054213961.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357986.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..419
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..419
                     /product="eIF5-mimic protein 1 isoform X1"
                     /calculated_mol_wt=48031
     CDS             1..419
                     /gene="BZW2"
                     /gene_synonym="5MP1; HSPC028; MST017; MSTP017"
                     /coded_by="XM_054357986.1:50..1309"
                     /db_xref="GeneID:28969"
                     /db_xref="HGNC:HGNC:18808"
                     /db_xref="MIM:619275"
ORIGIN      
        1 mnkhqkpvlt gqrfktrkrd ekekfeptvf rdtlvqglne agddleavak fldstgsrld
       61 yrryadtlfd ilvagsmlap ggtriddgdk tkmtnhcvfs anedhetirn yaqvfnklir
      121 rykylekafe demkklllfl kafseteqtk lamlsgillg ngtlpatilt slftdslvke
      181 giaasfavkl fkawmaekda nsvtsslrka nldkrllelf pvnrqsvdhf akyftdaglk
      241 elsdflrvqq slgtrkelqk elqerlsqec pikevvlyvk eemkrndlpe tavigllwtc
      301 imnavewnkk eelvaeqalk hlkqyaplla vfssqgqsel illqkvqeyc ydnihfmkaf
      361 qkivvlfyka dvlseeailk wykeahvakg ksvfldqmkk fvewlqnaee esesegeen
//
LOCUS       XP_054214802            1488 aa            linear   PRI 20-MAR-2023
DEFINITION  tensin-3 isoform X8 [Homo sapiens].
ACCESSION   XP_054214802
VERSION     XP_054214802.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054358827.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1488
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1488
                     /product="tensin-3 isoform X8"
                     /calculated_mol_wt=159690
     CDS             1..1488
                     /gene="TNS3"
                     /gene_synonym="TEM6; TENS1"
                     /coded_by="XM_054358827.1:2679..7145"
                     /db_xref="GeneID:64759"
                     /db_xref="HGNC:HGNC:21616"
                     /db_xref="MIM:606825"
ORIGIN      
        1 mnaaksddwt saadkknqap gsstlsnslc rdkplrpvil sptmeeghgl dltyiterii
       61 avsfpagcse esylhnlqev trmlkskhgd nylvlnlsek rydltklnpk imdvgwpelh
      121 appldkmcti ckaqeswlns nlqhvvvihc rggkgrigvv issymhftnv sasadqaldr
      181 famkkfyddk vsalmqpsqk ryvqflsgll sgsvkmnasp lflhfvilhg tpnfdtggvc
      241 rpflklyqam qpvytsgiyn vgpenpsric iviepaqllk gdvmvkcyhk kyrsatrdvi
      301 frlqfhtgav qgyglvfgke dldnaskddr fpdygkvelv fsatpekiqg sehlyndhgv
      361 ivdynttdpl irwdsyenls adgevlhtqg pvdgslyakv rkksssdpgi pggpqaipat
      421 nspdhsdhtl svssdsghst asartdktee rlapgtrrgl saqekaeldq llsgfgledp
      481 gsslkemtda rskysgtrhv vpaqvhvngd aalkdretdi lddemphhdl hsvdslgtls
      541 ssegpqsahl gpftchkssq nsllsdgfgs nvgedpqgtl vpdlglgmdg pyerertfgs
      601 repkqpqpll rkpsvsaqmq aygqssystq twvrqqqmvv ahqysfapdg earlvsrcpa
      661 dnpglvqaqp rvpltptrgt ssrvavqrgv gsgphppdtq qpspskafkp rfpgdqvvng
      721 agpelstgps pgsptldidq sieqlnrlil eldptfepip thmnalgsqa ngsvspdsvg
      781 gglrassrlp dtgegpsrat grqgssaeqp lggrlrklsl gqydndaggq lpfskcawgk
      841 agvdyapnlp pfpspadvke tmtpgypqdl diidgrilss kesmcstpaf pvspetpyvk
      901 talrhppfsp pepplsspas qhkggreprs cpetlthavg msespigpks tmlradasst
      961 psfqqafass ctissngpgq rressssaer qwvesspkpm vsllgsgrpt gsplsaefsg
     1021 trkdspvlsc fppselqapf hshelslaep pdslappssq aflgfgtapv gsglppeedl
     1081 gallanshga sptpsiplta tgaadngfls hnfltvapgh sshhspglqg qgvtlpgqpp
     1141 lpekkraseg drslgsvsps ssgfssphsg stisipfpnv lpdfskasea asplpdspgd
     1201 klvivkfvqd tskfwykadi sreqaiamlk dkepgsfivr dshsfrgayg lamkvatppp
     1261 svlqlnkkag dlanelvrhf liectpkgvr lkgcsnepyf gsltalvcqh sitplalpck
     1321 lliperdple eiaesspqta ansaaellkq gaacnvwyln svemesltgh qaiqkalsit
     1381 lvqepppvst vvhfkvsaqg itltdnqrkl ffrrhypvns vifcaldpqd rkwikdgpss
     1441 kvfgfvarkq gsatdnvchl faehdpeqpa saivnfvskv migspkkv
//
LOCUS       XP_054215431             760 aa            linear   PRI 20-MAR-2023
DEFINITION  cyclin-D-binding Myb-like transcription factor 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054215431
VERSION     XP_054215431.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054359456.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..760
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..760
                     /product="cyclin-D-binding Myb-like transcription factor 1
                     isoform X1"
                     /calculated_mol_wt=84340
     CDS             1..760
                     /gene="DMTF1"
                     /gene_synonym="DMP1; DMTF; hDMP1; MRUL"
                     /coded_by="XM_054359456.1:2418..4700"
                     /db_xref="GeneID:9988"
                     /db_xref="HGNC:HGNC:14603"
                     /db_xref="MIM:608491"
ORIGIN      
        1 mstveedsdt vtvetvnsvt ltqdtegnli lhcpqneade idsedsiepp hkrlclssed
       61 dqsiddstpc isvvalplse ndqsfevtmt attevaddev tegtvtqiqi lqneqldeis
      121 plgneevsav sqawfttked kdsltnkghk wkqgmwskee idilmnnier ylkargikda
      181 teiifemskd erkdfyrtia wglnrplfav yrrvlrmydd rnhvgkytpe eieklkelri
      241 khgndwatig aalgrsassv kdrcrlmkdt cntgkwteee ekrlaevvhe ltstepgdiv
      301 tqgvswaava ervgtrsekq crskwlnyln wkqsggtewt kedeinlilr iaeldvaden
      361 dinwdllaeg wssvrspqwl rskwwtikrq ianhkdvsfp vlikglkqlh enqknnptll
      421 enksgsgvpn sntnssvqhv qirvarledn taissspmaa lqipvqithv ssadspatvd
      481 setitlnsgt lqtfeilpsf hlqptgtpgt yllqtsssqg lpltltaspt vtltaaapas
      541 peqiivhals pehllntsdn vtvqchtprv iiqtvatedi tssisqaelt vdsdiqssdf
      601 peppdalead tfpdeihhpk mtvepsfnda hvskfsdqns telmnsvmvr teeeisdtdl
      661 kqeespsdla sayvtegles ptieeqvdqt iddetilivp sphgfiqasd vidtesvlpl
      721 ttltdpilqh hqeesniigs slgspvseds kdvedlvnch
//
LOCUS       XP_054217443             271 aa            linear   PRI 20-MAR-2023
DEFINITION  3'-5' exoribonuclease 1 isoform X3 [Homo sapiens].
ACCESSION   XP_054217443
VERSION     XP_054217443.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361468.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..271
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..271
                     /product="3'-5' exoribonuclease 1 isoform X3"
                     /calculated_mol_wt=31526
     CDS             1..271
                     /gene="ERI1"
                     /gene_synonym="3'HEXO; HEXO; THEX1"
                     /coded_by="XM_054361468.1:784..1599"
                     /db_xref="GeneID:90459"
                     /db_xref="HGNC:HGNC:23994"
                     /db_xref="MIM:608739"
ORIGIN      
        1 mskeelrakl sefkletrgv kdvlkkrlkn yykkqklmlk esnfadsyyd yiciidfeat
       61 ceegnppefv heiiefpvvl lnthtleied tfqqyvrpei ntqlsdfcis ltgitqdqvd
      121 radtfpqvlk kvidwmklke lgtkykysll tdgswdmskf lniqcqlsrl kyppfakkwi
      181 nirksygnfy kvprsqtklt imleklgmdy dgrphcgldd skniariavr mlqdgcelri
      241 nekmhagqlm svssslpieg tpppqmphfr k
//
LOCUS       XP_054217452              99 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 251 isoform X4 [Homo sapiens].
ACCESSION   XP_054217452
VERSION     XP_054217452.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361477.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..99
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..99
                     /product="zinc finger protein 251 isoform X4"
                     /calculated_mol_wt=10881
     CDS             1..99
                     /gene="ZNF251"
                     /coded_by="XM_054361477.1:296..595"
                     /db_xref="GeneID:90987"
                     /db_xref="HGNC:HGNC:13045"
ORIGIN      
        1 maatfqlpgh qempltfqdv avyfsqaegr qlgpqqraly rdvmlenygn vaslgfpvpk
       61 pelisqleqg kelwvlnllg aeepdilksc qkgaptrlp
//
LOCUS       XP_054217486            3249 aa            linear   PRI 20-MAR-2023
DEFINITION  fibrocystin-L isoform X5 [Homo sapiens].
ACCESSION   XP_054217486
VERSION     XP_054217486.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361511.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3249
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..3249
                     /product="fibrocystin-L isoform X5"
                     /calculated_mol_wt=354052
     CDS             1..3249
                     /gene="PKHD1L1"
                     /gene_synonym="PKHDL1"
                     /coded_by="XM_054361511.1:100..9849"
                     /db_xref="GeneID:93035"
                     /db_xref="HGNC:HGNC:20313"
                     /db_xref="MIM:607843"
ORIGIN      
        1 mdiflkinds niigekanmt vtrikegglf rqhvlgdllr tpsqqpqvev yvngipakcs
       61 gdcgftwdsn itplvlaisp sqgsyeegti ltivgsgfsp ssavtvsvgp vgcsllsvde
      121 kelkcqilng saghapvavs madvglaqnv ggeefyfvyq sqishiwpds gsiaggtllt
      181 lsgfgfnens kvlvgnetcn viegdlnrit crtpkktegt vdisvttngf qatardafsy
      241 nclqtpiitd fspkvrtilg evnltikgyn fgneltqnma vyvggktcqi lhwnftdirc
      301 llpklspgkh diyvevrnwg fastrdklns siqyvlevts mfpqrgslfg gteitirgfg
      361 fstipaentv llgsipcnvt sssenvikci lhstgnifri tnngkdsvhg lgyawsppvl
      421 nvsvgdtvaw hwqthpflrg igyrifsvss pgsviydgkg ftsgrqksts gsfsyqftsp
      481 gihyyssgyv deahsiflqg vinvlpaetr hiplhlfvgr seatyayggp enlhlgssva
      541 gclateplcs lnntrvknsk rllfevsscf spsisnitps tgtvneliti ighgfsnlpw
      601 ankvtigsyp cvveesseds itchidpqns mdvgiretvt ltvynlgtai ntlsnefdrr
      661 fvllpnidlv lpnagsttgm tsvtikgsgf avssagvkvl mghfpckvls vnytaiecet
      721 spaaqqlvdv dllihgvpaq cqgnctfsyl esitpyitgv fpnsvigsvk vliegeglgt
      781 vlediavfig nqqfraievn ennitalvtp lpvghhsvsv vvgskglalg nltvssppva
      841 slsptsgsig ggttlvitgn gfypgnttvt igdepcqiis inpnevycrt pagttgmvdv
      901 kifvntiayp pllftyaled tpflrgiips rgppgteiei tgsnfgfeil eisvminniq
      961 cnvtmandsv vqcivgdhag gtfpvmmhhk tkgsamstvv feyplniqni npsqgsfggg
     1021 qtmtvtgtgf npqnsiilvc gsecaidrlr sdyttllcei psnngtgaeq acevsvvngk
     1081 dlsqsmtpft yavsltplit avspkrgsta ggtrltvvgs gfsenmedvh itiaeakcdv
     1141 eysnkthiic mtdahtlsgw apvcvhirgv gmakldnadf lyvdawssnf swggksppee
     1201 gslvvitkgq tilldqstpi lkmlliqggt lifdeadiel qaenilitdg gvlqigtets
     1261 pfqhkavitl hghlrspelp vygaktlavr egildlhgvp vpvtwtrlah takagerili
     1321 lqeavtwkpg dniviastgh rhsqgenekm tiasvsadgi nitlsnplny thlgitvtlp
     1381 dgtlfearae vgiltrnili rgsdnvewnn kipacpdgfd tgefatqtcl qgkfgeeigs
     1441 dqfggcvmfh apvpganmvt grieyvevfh agqafrlgry pihwhllgdl qfksyvrgca
     1501 ihqaynravt ihnthhllve rniiydikgg affiedgieh gnilqynlav fvqqstslln
     1561 ddvtpaafwv tnpnntirhn avaggthfgf wyrmnnhpdg psydrnicqk rvplgeffnn
     1621 tvhsqgwfgm wifeeyfpmq tgsctstvpa paifnslttw ncqkgaewvn ggalqfhnfv
     1681 mvnnyeagie tkrilapyvg gwgetngavi knakivghld elgmgsafct akglvlpfse
     1741 gltvssvhfm nfdrpncval gvtsisgvcn drcggwsakf vdvqyshtpn kagfrwehem
     1801 vmidvdgslt ghkghtviph sslldpshct qeaewsigfp gsvcdasvsf hrlafnqpsp
     1861 vsllekdvvl sdsfgtsiip fqkkrlthms gwmalipnan hinwyfkgvd hitnisytst
     1921 fygfkeedyv iishnftqnp dmfniidmrn gssnplnwnt skngdwhlea ntstlyylvs
     1981 grndlhqsql isgnldpdvk dvvinfqayc cilqdcfpvh ppsrkpipkk rpatynlwsn
     2041 dsfwqssren nytvphpgan viipegtwiv adidmpsmer liiwgvlele dkynvgaaes
     2101 syrevvlnat yislqggrli ggwednpfkg dlkivlrgnh ttqdwalpeg pnqgakvlgv
     2161 fgeldlhgip hsiyktklse tafagskvls lmdavdwqeg eeivitttsy dfhqtetrsi
     2221 vkilhdhkil ilndslsyth faekyhvpgt gesytlaadv gilsrnikiv gedypgwsed
     2281 sfgarvlvgs ftenmmtfkg narisnvefy hsgqegfrds tdpryavtfl nlgqiqehgs
     2341 syirgcafhh gfspaigvfg tdgldiddni ihftvgegir iwgnanrvrg nlialsvwpg
     2401 tyqnrkdlss tlwhaaiein rgtntvlqnn vvagfgragy ridgepcpgq fnpvekwfdn
     2461 eahgglygiy mnqdglpgcs liqgftiwtc wdygiyfqtt esvhiynvtl vdngmaifpm
     2521 iympaaishk issknvqiks slivgsspgf ncsdvltndd pnieltaahr sprspsggrs
     2581 gicwptfasa hnmaprkpha gimsynaisg lldisgstfv gfknvcsget nvifitnpln
     2641 edlqhpihvk niklvdtteq skifihrpdi skvnpsdcvd mvcdakrksf lrdidgsflg
     2701 nagsvipqae yewdgnsqvg igdyripkam ltflngsrip vtekaphkgi irdstckylp
     2761 ewqsyqcfgm eyammviesl dpdtetrrls pvaimgngyv dlingpqdhg wcagytcqrr
     2821 lslfhsival nksyevyftg tspqnlrlml lnvdhnkavl vgiffstlqr ldvyvnnllv
     2881 cpkttiwnaq qkhcelnnhl ykdqflpnld stvlgenyfd gtyqmlyllv kgtipveiht
     2941 atvifvsfql svateddfyt shnlvknlal flkipsdkir iskirgkslr rkrsmgfiie
     3001 ieigdppiqf isngttgqmq lselqeiags lgqavilgni ssilgfniss msitnplpsp
     3061 sdsgwikvta qpversafpv hhvafvssll vitqpvaaqp gqpfpqqpsv katdsdgncv
     3121 svgitaltlr ailkdsnnnq vnglsgntti pfsscwanyt dltplrtgkn ykiefildnv
     3181 vgvesrtfsl laesvsssgs ssssnskast vgtyaqimtv visclvgrmw lleifmaavs
     3241 tlnitlrsy
//
LOCUS       XP_054219079             505 aa            linear   PRI 20-MAR-2023
DEFINITION  transmembrane protein 8B isoform X14 [Homo sapiens].
ACCESSION   XP_054219079
VERSION     XP_054219079.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363104.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..505
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..505
                     /product="transmembrane protein 8B isoform X14"
                     /calculated_mol_wt=55088
     CDS             1..505
                     /gene="TMEM8B"
                     /gene_synonym="C9orf127; FP588; LINC00950; NAG-5; NAG5;
                     NGX6; NGX6a"
                     /coded_by="XM_054363104.1:271..1788"
                     /db_xref="GeneID:51754"
                     /db_xref="HGNC:HGNC:21427"
                     /db_xref="MIM:616888"
ORIGIN      
        1 miwrrqlgsp rrtcwvqglq decqyllqpq livrrlldva vlvpgrpseq tlsphnrsal
       61 ykvfvpsfty rvsaqlvcvg grgvsacpls lrlrpkappl hnsssvacgg asgcqlelal
      121 ppwghwvyvr vetssrgpgr tirfqlcvql qecpqpgllr alvpgaamnm pqslgnqplp
      181 peppslgtpa egpgttsppe hcwpvrptlr neldtfsvhf yiffgpsval pperpavfam
      241 rllpvldsgg vlslelqlna ssvrqenvtv fgclthevpl slgdaavtcs keslagflls
      301 vsattrvarl ripfpqtgtw flalrslcgv gprfvrcrna taevrmrtfl spcvddcgpy
      361 gqckllrthn ylyaacecka gwrgwgctds adaltygfql lstlllclsn lmflppvvla
      421 irsryvleaa vytftmffst vcggvcilsl gacawwwvtv cisttfsegl gmsvpslcll
      481 qtetavlpkl scidnghfck thwsk
//
LOCUS       XP_054182919            2079 aa            linear   PRI 20-MAR-2023
DEFINITION  host cell factor 1 isoform X5 [Homo sapiens].
ACCESSION   XP_054182919
VERSION     XP_054182919.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326944.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2079
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2079
                     /product="host cell factor 1 isoform X5"
                     /calculated_mol_wt=213275
     CDS             1..2079
                     /gene="HCFC1"
                     /gene_synonym="CFF; HCF; HCF-1; HCF1; HFC1; MAHCX; MRX3;
                     PPP1R89; VCAF; XLID3"
                     /coded_by="XM_054326944.1:979..7218"
                     /db_xref="GeneID:3054"
                     /db_xref="HGNC:HGNC:4839"
                     /db_xref="MIM:300019"
ORIGIN      
        1 masavspanl pavllqprwk rvvgwsgpvp rprhghrava ikelivvfgg gnegivdelh
       61 vyntatnqwf ipavrgdipp gcaaygfvcd gtrllvfggm veygkysndl yelqasrwew
      121 krlkaktpkn gpppcprlgh sfslvgnkcy lfgglandse dpknnipryl ndlyilelrp
      181 gsgvvawdip itygvlpppr eshtavvyte kdnkksklvi yggmsgcrlg dlwtldidtl
      241 twnkpslsgv aplprslhsa ttignkmyvf ggwvplvmdd vkvathekew kctntlacln
      301 ldtmawetil mdtlednipr araghcavai ntrlyiwsgr dgyrkawnnq vcckdlwyle
      361 tekpppparv qlvrantnsl evswgavata dsyllqlqky dipataatat sptpnpvpsv
      421 panppkspap aaaapavqpl tqvgitllpq aapapptttt iqvlptvpgs sisvptaart
      481 qgvpavlkvt gpqattgtpl vtmrpasqag kapvtvtslp agvrmvvptq saqgtvigss
      541 pqmsgmaala aaaaatqkip pssaptvlsv pagttivktm avtpgtttlp atvkvasspv
      601 mvsnpatrml ktaaaqvgts vssatntstr piitvhksgt vtvaqqaqvv ttvvggvtkt
      661 itlvkspisv pggsalisnl gkvmsvvqtk pvqtsavtgq astgpvtqii qtkgplpagt
      721 ilklvtsadg kpttiitttq asgagtkpti lgissvspst tkpgtttiik tipmsaiitq
      781 agatgvtssp gikspitiit tkvmtsgtga pakiitavpk iatghgqqgv tqvvlkgapg
      841 qpgtilrtvp mggvrlvtpv tvsavkpavt tlvvkgttgv ttlgtvtgtv stslagaggh
      901 stsaslatpi ttlgtiatls sqvinptait vsaaqttlta agglttptit mqpvsqptqv
      961 tlitapsgve aqpvhdlpvs ilasptteqp tatvtiadsg qgdvqpgtvt lvcsnppcet
     1021 hetgttntat ttvvanlggh pqptqvqfvc drqeaaaslv tstvgqqngs vvrvcsnppc
     1081 ethetgttnt attatsnmag qhgcsnppce thetgttnta ttamssvgan hqrdarraca
     1141 agtpaviris vatgaleaaq gsksqcqtrq tsatsttmtv matgapcsag pllgpsmare
     1201 pggrspafvq laplsskvrl sspsikdlpa grhshavsta amtrssvgag eprmapvces
     1261 lqggspsttv tvtaleallc psatvtqvcs nppcethetg ttntattsna gsaqrvcsnp
     1321 pcethetgtt htattatsng gtgqpeggqq ppagrpceth qttstgttms vsvgallpda
     1381 tsshrtvesg levaaapsvt pqagtallap fptqrvcsnp pcethetgtt htattvtsnm
     1441 ssnqdpppaa sdqgevestq gdsvnitsss aitttvsstl travttvtqs tpvpgpsvpk
     1501 issmtetapr alttevpipa kitvtiante tsdmpfsavd ilqppeelqv spgprqqlpp
     1561 rqllqsasta lmgesaevls asqtpelpaa vdlsstgeps sgqesagsav vatvvvqppp
     1621 ptqsevdqls lpqelmaeaq agtttlmvtg ltpeelavta aaeaaaqaaa teeaqalaiq
     1681 avlqaaqqav mgtgepmdts eaaatvtqae lghlsaegqe gqattipivl tqqelaalvq
     1741 qqqlqeaqaq qqhhhlptea lapadslndp aiesnclnel agtvpstval lpstatesla
     1801 psntfvapqp vvvaspaklq aaatltevan gieslgvkpd lppppskapm kkenqwfdvg
     1861 vikgtnvmvt hyflppddav psdddlgtvp dynqlkkqel qpgtaykfrv aginacgrgp
     1921 fseisafktc lpgfpgapca ikiskspdga hltweppsvt sgkiieysvy laiqssqagg
     1981 elksstpaql afmrvycgps psclvqsssl snahidyttk paiifriaar nekgygpatq
     2041 vrwlqetskd ssgtkpankr pmsspemksa pkkskadgq
//
LOCUS       XP_054184238             816 aa            linear   PRI 20-MAR-2023
DEFINITION  neuroligin-4, Y-linked isoform X2 [Homo sapiens].
ACCESSION   XP_054184238
VERSION     XP_054184238.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328263.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060948) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 7% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..816
                     /organism="Homo sapiens"
                     /isolate="NA24385"
                     /bio_material="CORIELL:NA24385"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /sex="male"
                     /tissue_type="B-Lymphocyte"
     Protein         1..816
                     /product="neuroligin-4, Y-linked isoform X2"
                     /calculated_mol_wt=91890
     CDS             1..816
                     /gene="NLGN4Y"
                     /gene_synonym="HNL4Y"
                     /coded_by="XM_054328263.1:600..3050"
                     /db_xref="GeneID:22829"
                     /db_xref="HGNC:HGNC:15529"
                     /db_xref="MIM:400028"
ORIGIN      
        1 mlrpqgllwl pllftsvcvm lnsnvllwit alaikftlid sqaqypvvnt nygkiqglrt
       61 plpseilgpv eqylgvpyas pptgerrfqp pespsswtgi rnatqfsavc pqhlderfll
      121 hdmlpiwftt sldtlmtyvq dqnedclyln iyvpmeddih eqnskkpvmv yihggsymeg
      181 tgnmidgsil asygnvivit inyrlgilgf lstgdqaakg nyglldqiqa lrwieenvga
      241 fggdpkrvti fgsgagascv slltlshyse glfqkaiiqs gtalsswavn yqpakytril
      301 adkvgcnmld ttdmveclkn knykeliqqt itpatyhiaf gpvidgdvip ddpqilmeqg
      361 eflnydimlg vnqgeglkfv dgivdnedgv tpndfdfsvs nfvdnlygyp egkdtlreti
      421 kfmytdwadk enpetrrktl valftdhqwv apavatadlh aqygsptyfy afyhhcqsem
      481 kpswadsahg devpyvfgip migptelfsc nfskndvmls avvmtywtnf aktgdpnqpv
      541 pqdtkfihtk pnrfeevaws kynpkdqlyl higlkprvrd hyratkvafw lelvphlhnl
      601 neifqyvstt tkvpppdmts fpygtrrspa kiwpttkrpa itpannpkhs kdphktgped
      661 ttvlietkrd ystelsvtia vgasllflni lafaalyykk dkrrhethrh pspqrnttnd
      721 ithiqneeim slqmkqlehd heceslqahd tlrltcppdy tltlrrspdd ipfmtpntit
      781 mipntlmgmq plhtfktfsg gqnstnlphg hsttrv
//
LOCUS       XP_054184312            1553 aa            linear   PRI 20-MAR-2023
DEFINITION  histone demethylase UTY isoform X5 [Homo sapiens].
ACCESSION   XP_054184312
VERSION     XP_054184312.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328337.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060948) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1553
                     /organism="Homo sapiens"
                     /isolate="NA24385"
                     /bio_material="CORIELL:NA24385"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /sex="male"
                     /tissue_type="B-Lymphocyte"
     Protein         1..1553
                     /product="histone demethylase UTY isoform X5"
                     /calculated_mol_wt=172476
     CDS             1..1553
                     /gene="UTY"
                     /gene_synonym="KDM6AL; KDM6C; UTY1"
                     /coded_by="XM_054328337.1:1006..5667"
                     /db_xref="GeneID:7404"
                     /db_xref="HGNC:HGNC:12638"
                     /db_xref="MIM:400009"
ORIGIN      
        1 mkscavsltt aavafgdeak kmaegkasre seeesvsltv eerealggmd srlfgfvrlh
       61 edgartktll gkavrcyesl ilkaegkves dffcqlghfn llledyskal sayqryyslq
      121 adywknaafl yglglvyfyy nafhwaikaf qdvlyvdpsf crakeihlrl glmfkvntdy
      181 ksslkhfqla lidcnpctls naeiqfhiah lyetqrkyhs akeayeqllq tenlpaqvka
      241 tvlqqlgwmh hnmdlvgdka tkesyaiqyl qksleadpns gqswyflgrc yssigkvqda
      301 fisyrqsidk seasadtwcs igvlyqqqnq pmdalqayic avqldhghaa awmdlgtlye
      361 scnqpqdaik cylnaarskr csntstlaar ikflqayrah dpntehvlnh sqtpilqqsl
      421 slhmitssqv eglsspakkk rtssptkngs dnwnggqsls hhpvqqvysl cltpqklqhl
      481 eqlranrdnl npaqkhqleq lesqfvlmqq mrhkevaqvr ttgihngait dsslptnsvs
      541 nrqphgaltr vssvsqpgvr pacvekllss gafsagcipc gtskilgstd tillgsncia
      601 gsesngnvpy lqqnthtlph nhtdlnsste epwrkqlsns aqaylghltg fiqdncnkgl
      661 hksqssclsg pneeqplfst gsaqyhqats tgikkanehl tlpsnsvpqg dadshlscht
      721 atsggqqgim ftkeskpskn rslvpetsrh tgdtsngcad vkglsnhvhq liadavsspn
      781 hgdspnllia dnpqlsalli gkangnvgtg tcdkvnnihp avhtktdhsv asspssaist
      841 atpspksteq rsinsvtsln sphsglhtvn geglgksqss tkvdlplash rstsqilpsm
      901 svsicpsste vlkacrnpgk nglsnscill dkcppprppt spypplpkdk lnpptpsiyl
      961 enkrdaffpp lhqfctnpkn pvtvirglag alkldlglfs tktlveanne hmvevrtqll
     1021 qpadenwdpt gtkkiwrces nrshttiaky aqyqassfqe slreenekrt qhkdhsdnes
     1081 tssensgrrr kgpfktikfg tnidlsdnkk wklqlheltk lpafarvvsa gnllthvght
     1141 ilgmntvqly mkvpgsrtpg hqennnfcsv ninigpgdce wfvvpedywg vlndfceknn
     1201 lnflmsswwp nledlyeanv pvyrfiqrpg dlvwinagtv hwvqavgwcn niawnvgplt
     1261 acqyklaver yewnklksvk spvpmvhlsw nmarnikvsd pklfemikyc llkilkqyqt
     1321 lrealvaagk eviwhgrtnd epahycsice vevfnllfvt nesntqktyi vhchdcarkt
     1381 skslenfvvl eqykmedliq vydqftlasp wppmdqsaft ssllrpikal gsgraeqtsg
     1441 dqlqkgaths rassllraae mtrrpasree lpdpglfchs ikllfvlfsf hlstflilpc
     1501 qrrrtwelld ggaescktnr antpiahylv seeerraval qrvqtwelle pgl
//
LOCUS       NP_001303887             137 aa            linear   PRI 21-MAR-2023
DEFINITION  mth938 domain-containing protein isoform b [Homo sapiens].
ACCESSION   NP_001303887
VERSION     NP_001303887.1
DBSOURCE    REFSEQ: accession NM_001316958.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 137)
  AUTHORS   Golden E, Rashwan R, Woodward EA, Sgro A, Wang E, Sorolla A, Waryah
            C, Tie WJ, Cuyas E, Ratajska M, Kardas I, Kozlowski P, Johnstone
            EKM, See HB, Duffy C, Parry J, Lagerborg KA, Czapiewski P, Menendez
            JA, Gorczynski A, Wasag B, Pfleger KDG, Curtis C, Lee BK, Kim J,
            Cursons J, Pavlos NJ, Biernat W, Jain M, Woo AJ, Redfern A and
            Blancafort P.
  TITLE     The oncogene AAMDC links PI3K-AKT-mTOR signaling with metabolic
            reprograming in estrogen receptor-positive breast cancer
  JOURNAL   Nat Commun 12 (1), 1920 (2021)
   PUBMED   33772001
  REMARK    GeneRIF: The oncogene AAMDC links PI3K-AKT-mTOR signaling with
            metabolic reprograming in estrogen receptor-positive breast cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 137)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (residues 1 to 137)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 137)
  AUTHORS   Xiao R, Li C, Wang C, Cao Y, Zhang L, Guo Y, Xin Y, Zhang H and
            Zhou G.
  TITLE     Adipogenesis associated Mth938 domain containing (AAMDC) protein
            expression is regulated by alternative polyadenylation and
            microRNAs
  JOURNAL   FEBS Lett 593 (14), 1724-1734 (2019)
   PUBMED   31116411
  REMARK    GeneRIF: AAMDC is post-transcriptionally regulated through APA and
            microRNAs
REFERENCE   5  (residues 1 to 137)
  AUTHORS   Ma X, Ding W, Wang J, Wu G, Zhang H, Yin J, Zhou L and Li D.
  TITLE     LOC66273 isoform 2, a novel protein highly expressed in white
            adipose tissue, induces adipogenesis in 3T3-L1 cells
  JOURNAL   J Nutr 142 (3), 448-455 (2012)
   PUBMED   22279136
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000580.6 and AP002812.3.
            
            Transcript Variant: This variant (2) contains an alternate exon
            compared to variant 1, that causes a frameshift. The resulting
            isoform (b) has a shorter and distinct C-terminus compared to
            isoform a. Variants 2 and 12 both encode the same isoform (b).
            
            ##Evidence-Data-START##
            Transcript exon combination :: CN362204.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03568912 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..137
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1"
     Protein         1..137
                     /product="mth938 domain-containing protein isoform b"
                     /note="UPF0366 protein C11orf67; adipogenesis associated
                     Mth938 domain-containing protein; mth938 domain-containing
                     protein"
                     /calculated_mol_wt=15059
     Region          5..>93
                     /region_name="Mth938-like"
                     /note="Mth938-like domain. The members of this family
                     include: Mth938, 2P1, Xcr35, Rpa2829, and several
                     uncharacterized sequences. Mth938 is a hypothetical
                     protein encoded by the Methanobacterium
                     thermoautotrophicum (Mth) genome. This protein
                     crystallizes as a...; cl00182"
                     /db_xref="CDD:444730"
     CDS             1..137
                     /gene="AAMDC"
                     /gene_synonym="C11orf67; CK067; PTD015"
                     /coded_by="NM_001316958.3:159..572"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS81604.1"
                     /db_xref="GeneID:28971"
                     /db_xref="HGNC:HGNC:30205"
ORIGIN      
        1 mtspeiasls wgqmkvkgsn ttykdckvwp ggsrtwdwre tgtehspgvq padvkevvek
       61 gvqtlvigrg msealkaptq qlpsgvhvra vvqfhlatas whilercktd qeleqlgvfs
      121 tllwtgegsw tehqtcl
//
LOCUS       NP_001368879             244 aa            linear   PRI 23-MAR-2023
DEFINITION  dicarboxylate carrier SLC25A8 isoform c [Homo sapiens].
ACCESSION   NP_001368879
VERSION     NP_001368879.1
DBSOURCE    REFSEQ: accession NM_001381950.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 244)
  AUTHORS   Huesca-Gomez C, Torres-Paz YE, Fuentevilla-Alvarez G,
            Gonzalez-Moyotl NJ, Ramirez-Marroquin ES, Vasquez-Jimenez X,
            Sainz-Escarrega V, Soto ME, Samano R and Gamboa R.
  TITLE     Expressions of mRNA and encoded proteins of mitochondrial
            uncoupling protein genes (UCP1, UCP2, and UCP3) in epicardial and
            mediastinal adipose tissue and associations with coronary artery
            disease
  JOURNAL   Arch Endocrinol Metab 67 (2), 214-223 (2023)
   PUBMED   36651711
  REMARK    GeneRIF: Expressions of mRNA and encoded proteins of mitochondrial
            uncoupling protein genes (UCP1, UCP2, and UCP3) in epicardial and
            mediastinal adipose tissue and associations with coronary artery
            disease.
REFERENCE   2  (residues 1 to 244)
  AUTHORS   Pereira EEB, Modesto AAC, Fernandes BM, Burbano RMR, Assumpcao PP,
            Fernandes MR, Guerreiro JF, Santos SEBD and Santos NPCD.
  TITLE     Association between Polymorphism of Genes IL-1A, NFKB1, PAR1, TP53,
            and UCP2 and Susceptibility to Non-Small Cell Lung Cancer in the
            Brazilian Amazon
  JOURNAL   Genes (Basel) 14 (2), 461 (2023)
   PUBMED   36833388
  REMARK    GeneRIF: Association between Polymorphism of Genes IL-1A, NFKB1,
            PAR1, TP53, and UCP2 and Susceptibility to Non-Small Cell Lung
            Cancer in the Brazilian Amazon.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 244)
  AUTHORS   Din I, Majid S, Rashid F, Wani MD, Qadir J, Wani H and Fareed M.
  TITLE     Mitochondrial uncoupling protein 2 (UCP2) gene polymorphism - 866
            G/A in the promoter region is associated with type 2 diabetes
            mellitus among Kashmiri population of Northern India
  JOURNAL   Mol Biol Rep 50 (1), 475-483 (2023)
   PUBMED   36346492
  REMARK    GeneRIF: Mitochondrial uncoupling protein 2 (UCP2) gene
            polymorphism - 866 G/A in the promoter region is associated with
            type 2 diabetes mellitus among Kashmiri population of Northern
            India.
REFERENCE   4  (residues 1 to 244)
  AUTHORS   Luby A and Alves-Guerra MC.
  TITLE     UCP2 as a Cancer Target through Energy Metabolism and Oxidative
            Stress Control
  JOURNAL   Int J Mol Sci 23 (23), 15077 (2022)
   PUBMED   36499405
  REMARK    GeneRIF: UCP2 as a Cancer Target through Energy Metabolism and
            Oxidative Stress Control.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 244)
  AUTHORS   Andreev DE, O'Connor PB, Fahey C, Kenny EM, Terenin IM, Dmitriev
            SE, Cormican P, Morris DW, Shatsky IN and Baranov PV.
  TITLE     Translation of 5' leaders is pervasive in genes resistant to eIF2
            repression
  JOURNAL   Elife 4, e03971 (2015)
   PUBMED   25621764
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 244)
  AUTHORS   Hurtaud C, Gelly C, Bouillaud F and Levi-Meyrueis C.
  TITLE     Translation control of UCP2 synthesis by the upstream open reading
            frame
  JOURNAL   Cell Mol Life Sci 63 (15), 1780-1789 (2006)
   PUBMED   16845607
REFERENCE   7  (residues 1 to 244)
  AUTHORS   Boss O, Samec S, Paoloni-Giacobino A, Rossier C, Dulloo A, Seydoux
            J, Muzzin P and Giacobino JP.
  TITLE     Uncoupling protein-3: a new member of the mitochondrial carrier
            family with tissue-specific expression
  JOURNAL   FEBS Lett 408 (1), 39-42 (1997)
   PUBMED   9180264
REFERENCE   8  (residues 1 to 244)
  AUTHORS   Gimeno RE, Dembski M, Weng X, Deng N, Shyjan AW, Gimeno CJ, Iris F,
            Ellis SJ, Woolf EA and Tartaglia LA.
  TITLE     Cloning and characterization of an uncoupling protein homolog: a
            potential molecular mediator of human thermogenesis
  JOURNAL   Diabetes 46 (5), 900-906 (1997)
   PUBMED   9133562
REFERENCE   9  (residues 1 to 244)
  AUTHORS   Fleury C, Neverova M, Collins S, Raimbault S, Champigny O,
            Levi-Meyrueis C, Bouillaud F, Seldin MF, Surwit RS, Ricquier D and
            Warden CH.
  TITLE     Uncoupling protein-2: a novel gene linked to obesity and
            hyperinsulinemia
  JOURNAL   Nat Genet 15 (3), 269-272 (1997)
   PUBMED   9054939
REFERENCE   10 (residues 1 to 244)
  AUTHORS   Gillis,D.
  TITLE     Familial Hyperinsulinism
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301549
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003717.3.
            
            Summary: Mitochondrial uncoupling proteins (UCP) are members of the
            larger family of mitochondrial anion carrier proteins (MACP). UCPs
            separate oxidative phosphorylation from ATP synthesis with energy
            dissipated as heat, also referred to as the mitochondrial proton
            leak. UCPs facilitate the transfer of anions from the inner to the
            outer mitochondrial membrane and the return transfer of protons
            from the outer to the inner mitochondrial membrane. They also
            reduce the mitochondrial membrane potential in mammalian cells.
            Tissue specificity occurs for the different UCPs and the exact
            methods of how UCPs transfer H+/OH- are not known. UCPs contain the
            three homologous protein domains of MACPs. This gene is expressed
            in many tissues, with the greatest expression in skeletal muscle.
            It is thought to play a role in nonshivering thermogenesis, obesity
            and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. [provided by
            RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853564.5475.1,
                                           SRR11853565.5597.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142670, SAMEA2150385
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..244
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..244
                     /product="dicarboxylate carrier SLC25A8 isoform c"
                     /note="mitochondrial uncoupling protein 2; solute carrier
                     family 25 member 8; uncoupling protein 2 (mitochondrial,
                     proton carrier); dicarboxylate carrier SLC25A8"
                     /calculated_mol_wt=26313
     Region          10..111
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     Region          152..234
                     /region_name="Mito_carr"
                     /note="Mitochondrial carrier protein; pfam00153"
                     /db_xref="CDD:395101"
     CDS             1..244
                     /gene="UCP2"
                     /gene_synonym="BMIQ4; SLC25A8; UCPH"
                     /coded_by="NM_001381950.1:380..1114"
                     /note="isoform c is encoded by transcript variant 8"
                     /db_xref="GeneID:7351"
                     /db_xref="HGNC:HGNC:12518"
                     /db_xref="MIM:601693"
ORIGIN      
        1 mvgfkatdvp ptatvkflga gtaaciadli tfpldtakvr lqiqgesqgp vratasaqyr
       61 gvmgtiltmv rtegprslyn glvaglqrqm sfasvrigly dsvkqfytkg sertspnvar
      121 naivncaelv tydlikdall kanlmtddlp chftsafgag fcttviaspv dvvktrymns
      181 algqyssagh caltmlqkeg prafykgfmp sflrlgswnv vmfvtyeqlk ralmaactsr
      241 eapf
//
LOCUS       NP_001394363             434 aa            linear   PRI 24-MAR-2023
DEFINITION  TGF-beta receptor type-1 isoform 7 [Homo sapiens].
ACCESSION   NP_001394363
VERSION     NP_001394363.1
DBSOURCE    REFSEQ: accession NM_001407434.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 434)
  AUTHORS   Starr LJ, Lindsay ME, Lino Cardenas CL and Yetman AT.
  TITLE     Siblings with profound connective tissue disease: First report of
            biallelic TGFBR1-related Loeys-Dietz syndrome
  JOURNAL   Am J Med Genet A 191 (3), 786-793 (2023)
   PUBMED   36584339
  REMARK    GeneRIF: Siblings with profound connective tissue disease: First
            report of biallelic TGFBR1-related Loeys-Dietz syndrome.
REFERENCE   2  (residues 1 to 434)
  AUTHORS   Pang KT, Ghim M, Sarathchandra P, Warboys CM, Yacoub MH, Chester AH
            and Weinberg PD.
  TITLE     Shear-mediated ALK5 expression regulates endothelial activation
  JOURNAL   Biochem Biophys Res Commun 642, 90-96 (2023)
   PUBMED   36566567
  REMARK    GeneRIF: Shear-mediated ALK5 expression regulates endothelial
            activation.
REFERENCE   3  (residues 1 to 434)
  AUTHORS   Frohlich J, Kovacovicova K, Raffaele M, Virglova T, Cizkova E,
            Kucera J, Bienertova-Vasku J, Wabitsch M, Peyrou M, Bonomini F,
            Rezzani R, Chaldakov GN, Tonchev AB, Di Rosa M, Blavet N, Hejret V
            and Vinciguerra M.
  TITLE     GDF11 inhibits adipogenesis and improves mature adipocytes
            metabolic function via WNT/beta-catenin and ALK5/SMAD2/3 pathways
  JOURNAL   Cell Prolif 55 (10), e13310 (2022)
   PUBMED   35920128
  REMARK    GeneRIF: GDF11 inhibits adipogenesis and improves mature adipocytes
            metabolic function via WNT/beta-catenin and ALK5/SMAD2/3 pathways.
REFERENCE   4  (residues 1 to 434)
  AUTHORS   Du Q, Zhang D, Zhuang Y, Xia Q, Wen T and Jia H.
  TITLE     The Molecular Genetics of Marfan Syndrome
  JOURNAL   Int J Med Sci 18 (13), 2752-2766 (2021)
   PUBMED   34220303
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 434)
  AUTHORS   Tzavlaki K and Moustakas A.
  TITLE     TGF-beta Signaling
  JOURNAL   Biomolecules 10 (3), 487 (2020)
   PUBMED   32210029
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 434)
  AUTHORS   Vander Ark A, Cao J and Li X.
  TITLE     TGF-beta receptors: In and beyond TGF-beta signaling
  JOURNAL   Cell Signal 52, 112-120 (2018)
   PUBMED   30184463
  REMARK    Review article
REFERENCE   7  (residues 1 to 434)
  AUTHORS   Loeys,B.L. and Dietz,H.C.
  TITLE     Loeys-Dietz Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301312
REFERENCE   8  (residues 1 to 434)
  AUTHORS   Milewicz,D.M. and Regalado,E.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
REFERENCE   9  (residues 1 to 434)
  AUTHORS   Cheifetz S, Bellon T, Cales C, Vera S, Bernabeu C, Massague J and
            Letarte M.
  TITLE     Endoglin is a component of the transforming growth factor-beta
            receptor system in human endothelial cells
  JOURNAL   J Biol Chem 267 (27), 19027-19030 (1992)
   PUBMED   1326540
REFERENCE   10 (residues 1 to 434)
  AUTHORS   Massague J.
  TITLE     Receptors for the TGF-beta family
  JOURNAL   Cell 69 (7), 1067-1070 (1992)
   PUBMED   1319842
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162427.24.
            
            Summary: The protein encoded by this gene forms a heteromeric
            complex with type II TGF-beta receptors when bound to TGF-beta,
            transducing the TGF-beta signal from the cell surface to the
            cytoplasm. The encoded protein is a serine/threonine protein
            kinase. Mutations in this gene have been associated with
            Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Aug 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.2620015.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149398 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.33"
     Protein         1..434
                     /product="TGF-beta receptor type-1 isoform 7"
                     /EC_number="2.7.11.30"
                     /note="activin A receptor type II-like kinase, 53kDa;
                     TGF-beta receptor type-1; activin receptor-like kinase 5;
                     serine/threonine-protein kinase receptor R4; transforming
                     growth factor beta receptor I; transforming growth
                     factor-beta receptor type I; activin A receptor type
                     II-like protein kinase of 53kD; mutant transforming growth
                     factor beta receptor I"
                     /calculated_mol_wt=48745
     Region          <1..41
                     /region_name="Activin_recp"
                     /note="Activin types I and II receptor domain; pfam01064"
                     /db_xref="CDD:426025"
     Region          107..134
                     /region_name="TGF_beta_GS"
                     /note="Transforming growth factor beta type I GS-motif;
                     pfam08515"
                     /db_xref="CDD:430045"
     Region          140..427
                     /region_name="STKc_TGFbR1_ACVR1b_ACVR1c"
                     /note="Catalytic domain of the Serine/Threonine Kinases,
                     Transforming Growth Factor beta Type I Receptor and
                     Activin Type IB/IC Receptors; cd14143"
                     /db_xref="CDD:271045"
     Site            order(142..146,150,161,163,191,211..214,218,220,264,266,
                     268..269,271,282,285,305..308)
                     /site_type="active"
                     /db_xref="CDD:271045"
     Site            order(142..148,150,161,163,211..212,214,218,268..269,271,
                     282)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271045"
     Site            order(146,218,220,264,266,268,285,305..308)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271045"
     Site            order(173..174,177..178,181..182,196,198)
                     /site_type="other"
                     /note="FKBP12 binding site [polypeptide binding]"
                     /db_xref="CDD:271045"
     Site            281..308
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271045"
     CDS             1..434
                     /gene="TGFBR1"
                     /gene_synonym="AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1;
                     LDS1A; LDS2A; MSSE; SKR4; tbetaR-I; TBR-i; TBRI; TGFR-1"
                     /coded_by="NM_001407434.1:146..1450"
                     /note="isoform 7 is encoded by transcript variant 20"
                     /db_xref="GeneID:7046"
                     /db_xref="HGNC:HGNC:11772"
                     /db_xref="MIM:190181"
ORIGIN      
        1 mciaeidlip rdrpfvcaps sktgsvttty ccnqdhcnki elpttvkssp glgpvelaav
       61 iagpvcfvci slmlmvyich nrtvihhrvp needpsldrp fisegttlkd liydmttsgs
      121 gsglpllvqr tiartivlqe sigkgrfgev wrgkwrgeev avkifssree rswfreaeiy
      181 qtvmlrheni lgfiaadnkd ngtwtqlwlv sdyhehgslf dylnrytvtv egmiklalst
      241 asglahlhme ivgtqgkpai ahrdlkskni lvkkngtcci adlglavrhd satdtidiap
      301 nhrvgtkrym apevlddsin mkhfesfkra diyamglvfw eiarrcsigg ihedyqlpyy
      361 dlvpsdpsve emrkvvceqk lrpnipnrwq scealrvmak imrecwyang aarltalrik
      421 ktlsqlsqqe gikm
//
LOCUS       NP_002448               5130 aa            linear   PRI 25-MAR-2023
DEFINITION  mucin-2 precursor [Homo sapiens].
ACCESSION   NP_002448 XP_370601
VERSION     NP_002448.5
DBSOURCE    REFSEQ: accession NM_002457.5
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 5130)
  AUTHORS   Buyuk M, Ozluk Y, Bakkaloglu DV, Ozkan B, Firat P and Yilmazbayhan
            D.
  TITLE     Evaluation of MUC1, MUC2, MUC5AC, and MUC6 Expression Differences
            in Lung Adenocarcinoma Subtypes by Using a Final Immunoreactivity
            Score (FIRS)
  JOURNAL   Turk Patoloji Derg 39 (1), 64-74 (2023)
   PUBMED   36367122
  REMARK    GeneRIF: Evaluation of MUC1, MUC2, MUC5AC, and MUC6 Expression
            Differences in Lung Adenocarcinoma Subtypes by Using a Final
            Immunoreactivity Score (FIRS).
REFERENCE   2  (residues 1 to 5130)
  AUTHORS   Reznik N, Gallo AD, Rush KW, Javitt G, Fridmann-Sirkis Y, Ilani T,
            Nairner NA, Fishilevich S, Gokhman D, Chacon KN, Franz KJ and Fass
            D.
  TITLE     Intestinal mucin is a chaperone of multivalent copper
  JOURNAL   Cell 185 (22), 4206-4215 (2022)
   PUBMED   36206754
REFERENCE   3  (residues 1 to 5130)
  AUTHORS   Hu W, Feng P, Zhang M, Tian T, Wang S, Zhao B, Li Y, Wang S and Wu
            C.
  TITLE     Endotoxins Induced ECM-Receptor Interaction Pathway Signal Effect
            on the Function of MUC2 in Caco2/HT29 Co-Culture Cells
  JOURNAL   Front Immunol 13, 916933 (2022)
   PUBMED   35757703
  REMARK    GeneRIF: Endotoxins Induced ECM-Receptor Interaction Pathway Signal
            Effect on the Function of MUC2 in Caco2/HT29 Co-Culture Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 5130)
  AUTHORS   Yao D, Dai W, Dong M, Dai C and Wu S.
  TITLE     MUC2 and related bacterial factors: Therapeutic targets for
            ulcerative colitis
  JOURNAL   EBioMedicine 74, 103751 (2021)
   PUBMED   34902790
  REMARK    GeneRIF: MUC2 and related bacterial factors: Therapeutic targets
            for ulcerative colitis.
            Review article
REFERENCE   5  (residues 1 to 5130)
  AUTHORS   Moehle C, Ackermann N, Langmann T, Aslanidis C, Kel A,
            Kel-Margoulis O, Schmitz-Madry A, Zahn A, Stremmel W and Schmitz G.
  TITLE     Aberrant intestinal expression and allelic variants of mucin genes
            associated with inflammatory bowel disease
  JOURNAL   J Mol Med (Berl) 84 (12), 1055-1066 (2006)
   PUBMED   17058067
  REMARK    GeneRIF: Aberrant intestinal expression and allelic variant MUC2 is
            associated with inflammatory bowel disease.
REFERENCE   6  (residues 1 to 5130)
  AUTHORS   Gum JR Jr, Hicks JW, Toribara NW, Rothe EM, Lagace RE and Kim YS.
  TITLE     The human MUC2 intestinal mucin has cysteine-rich subdomains
            located both upstream and downstream of its central repetitive
            region
  JOURNAL   J Biol Chem 267 (30), 21375-21383 (1992)
   PUBMED   1400449
REFERENCE   7  (residues 1 to 5130)
  AUTHORS   Xu G, Huan L, Khatri I, Sajjan US, McCool D, Wang D, Jones C,
            Forstner G and Forstner J.
  TITLE     Human intestinal mucin-like protein (MLP) is homologous with rat
            MLP in the C-terminal region, and is encoded by a gene on
            chromosome 11 p 15.5
  JOURNAL   Biochem Biophys Res Commun 183 (2), 821-828 (1992)
   PUBMED   1550588
REFERENCE   8  (residues 1 to 5130)
  AUTHORS   Toribara NW, Gum JR Jr, Culhane PJ, Lagace RE, Hicks JW, Petersen
            GM and Kim YS.
  TITLE     MUC-2 human small intestinal mucin gene structure. Repeated arrays
            and polymorphism
  JOURNAL   J Clin Invest 88 (3), 1005-1013 (1991)
   PUBMED   1885763
REFERENCE   9  (residues 1 to 5130)
  AUTHORS   Jany BH, Gallup MW, Yan PS, Gum JR, Kim YS and Basbaum CB.
  TITLE     Human bronchus and intestine express the same mucin gene
  JOURNAL   J Clin Invest 87 (1), 77-82 (1991)
   PUBMED   1985113
REFERENCE   10 (residues 1 to 5130)
  AUTHORS   Griffiths B, Matthews DJ, West L, Attwood J, Povey S, Swallow DM,
            Gum JR and Kim YS.
  TITLE     Assignment of the polymorphic intestinal mucin gene (MUC2) to
            chromosome 11p15
  JOURNAL   Ann Hum Genet 54 (4), 277-285 (1990)
   PUBMED   1980995
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from MH593786.1.
            On Feb 28, 2023 this sequence version replaced NP_002448.4.
            
            Summary: This gene encodes a member of the mucin protein family.
            Mucins are high molecular weight glycoproteins produced by many
            epithelial tissues. The protein encoded by this gene is secreted
            and forms an insoluble mucous barrier that protects the gut lumen.
            The protein polymerizes into a gel of which 80% is composed of
            oligosaccharide side chains by weight. The protein features a
            central domain containing tandem repeats rich in threonine and
            proline that varies between 50 and 115 copies in different
            individuals. Downregulation of this gene has been observed in
            patients with Crohn disease and ulcerative colitis. [provided by
            RefSeq, Oct 2016].
            
            Sequence Note: This gene contains a variable number of tandem
            repeats, estimated to vary between 50-115 repeat units in the human
            genome.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1968540, SAMEA2142348
                              [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..5130
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     Protein         1..5130
                     /product="mucin-2 precursor"
                     /note="mucin 2, intestinal/tracheal"
                     /calculated_mol_wt=532955
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1897
     Site            21
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            163
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:33031746,
                     ECO:0000269|PubMed:35377815, ECO:0007744|PDB:7A5O,
                     ECO:0007744|PDB:7POV; propagated from UniProtKB/Swiss-Prot
                     (Q02817.3)"
     Site            423
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            670
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:33031746,
                     ECO:0000269|PubMed:35377815, ECO:0007744|PDB:7A5O,
                     ECO:0007744|PDB:7POV; propagated from UniProtKB/Swiss-Prot
                     (Q02817.3)"
     Site            770
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            894
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:31310764,
                     ECO:0007744|PDB:6RBF; propagated from UniProtKB/Swiss-Prot
                     (Q02817.3)"
     Site            1139
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1154
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:31310764,
                     ECO:0000269|PubMed:33031746, ECO:0000269|PubMed:35377815,
                     ECO:0007744|PDB:6RBF, ECO:0007744|PDB:7A5O,
                     ECO:0007744|PDB:7POV; propagated from UniProtKB/Swiss-Prot
                     (Q02817.3)"
     Site            1215
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1230
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1246
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1266
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) threonine.
                     /evidence=ECO:0000269|PubMed:33031746; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1267
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) threonine.
                     /evidence=ECO:0000269|PubMed:33031746; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1269
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) threonine.
                     /evidence=ECO:0000269|PubMed:33031746; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1270
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) threonine.
                     /evidence=ECO:0000269|PubMed:33031746; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1272
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) threonine.
                     /evidence=ECO:0000269|PubMed:33031746; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1275
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) threonine.
                     /evidence=ECO:0000269|PubMed:33031746; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1276
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) threonine.
                     /evidence=ECO:0000269|PubMed:33031746; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1281
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) threonine.
                     /evidence=ECO:0000269|PubMed:33031746; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1282
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) threonine.
                     /evidence=ECO:0000269|PubMed:33031746; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1287
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) threonine.
                     /evidence=ECO:0000269|PubMed:33031746; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1291
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) serine.
                     /evidence=ECO:0000269|PubMed:33031746; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1292
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) serine.
                     /evidence=ECO:0000269|PubMed:33031746; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1293
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) threonine.
                     /evidence=ECO:0000269|PubMed:33031746; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1296
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) serine.
                     /evidence=ECO:0000269|PubMed:33031746; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     Site            1297
                     /site_type="glycosylation"
                     /note="O-linked (GalNAc) threonine.
                     /evidence=ECO:0000269|PubMed:33031746; propagated from
                     UniProtKB/Swiss-Prot (Q02817.3)"
     CDS             1..5130
                     /gene="MUC2"
                     /gene_synonym="MLP; MUC-2; SMUC"
                     /coded_by="NM_002457.5:29..15421"
                     /db_xref="GeneID:4583"
                     /db_xref="HGNC:HGNC:7512"
                     /db_xref="MIM:158370"
ORIGIN      
        1 mglplarlaa vclalslagg selqtegrtr nhghnvcstw gnfhyktfdg dvfrfpglcd
       61 ynfasdcrgs ykefavhlkr gpgqaeapag vesilltikd dtiyltrhla vlngavvstp
      121 hyspglliek sdaytkvysr agltlmwnre dalmleldtk frnhtcglcg dynglqsyse
      181 flsdgvlfsp lefgnmqkin qpdvvcedpe eevapascse hraecerllt aeafadcqdl
      241 vplepylrac qqdrcrcpgg dtcvcstvae fsrqcshagg rpgnwrtatl cpktcpgnlv
      301 ylesgspcmd tcshlevssl ceehrmdgcf cpegtvyddi gdsgcvpvsq chcrlhghly
      361 tpgqeitndc eqcvcnagrw vckdlpcpgt caleggshit tfdgktytfh gdcyyvlakg
      421 dhndsyallg elapcgstdk qtclktvvll adkkknvvvf ksdgsvllne lqvnlphvta
      481 sfsvfrpssy himvsmaigv rlqvqlapvm qlfvtldqas qgqvqglcgn fnglegddfk
      541 tasglveatg agfantwkaq sschdkldwl ddpcslnies anyaehwcsl lkktetpfgr
      601 chsavdpaey ykrckydtcn cqnnedclca alssyaract akgvmlwgwr ehvcnkdvgs
      661 cpnsqvflyn lttcqqtcrs lseadshcle gfapvdgcgc pdhtfldekg rcvplakcsc
      721 yhrglyleag dvvvrqeerc vcrdgrlhcr qirligqsct apkihmdcsn ltalatskpr
      781 alscqtlaag yyhtecvsgc vcpdglmddg rggcvvekec pcvhnndlys sgakikvdcn
      841 tctckrgrwv ctqavchgtc siygsghyit fdgkyydfdg hcsyvavqdy cgqnsslgsf
      901 siitenvpcg ttgvtcskai kifmgrtelk ledkhrvviq rdeghhvayt trevgqylvv
      961 esstgiiviw dkrttvfikl apsykgtvcg lcgnfdhrsn ndfttrdhmv vsseldfgns
     1021 wkeaptcpdv stnpepcsln phrrswaekq csilkssvfs ichskvdpkp fyeacvhdsc
     1081 scdtggdcec fcsavasyaq ectkegacvf wrtpdlcpif cdyynpphec ewhyepcgnr
     1141 sfetcrting ihsnisvsyl egcyprcpkd rpiyeedlkk cvtadkcgcy vedthyppga
     1201 svpteetcks cvctnssqvv crpeegkiln qtqdgafcyw eicgpngtve khfnicsitt
     1261 rpstlttftt itlpttpttf ttttttttpt sstvlsttpk lcclwsdwin edhpssgsdd
     1321 gdretfdgvc gapediecrs vkdphlsleq lgqkvqcdvs vgficknedq fgngpfglcy
     1381 dykirvnccw pmdkcittps pptttpsppp tstttlpptt tpsppttttt tppptttpsp
     1441 pitttttppp tttpsppist tttppptttp spptttpspp tttpsppttt tttppptttp
     1501 spptttpitp pastttlppt ttpspptttt ttppptttps pptttpitpp tstttlpptt
     1561 tpsppptttt tppptttpsp pttttpsppt ittttppptt tpsppttttt tppptttpsp
     1621 ptttpitppt stttlppttt pspppttttt ppptttpspp ttttpsppit ttttpppttt
     1681 psspitttps pptttmttps ptttpsspit ttttpssttt pspppttmtt psptttpspp
     1741 ttttttlppt ttsspltttp lppsitpptf spfstttptt pcvplcnwtg wldsgkpnfh
     1801 kpggdtelig dvcgpgwaan iscratmypd vpigqlgqtv vcdvsvglic knedqkpggv
     1861 ipmafclnye invqccecvt qpttmttttt enptptpitt tttvtptptp tstqsttptp
     1921 itttntvtpt ptptgtqtpt ptpitttttm vtptptitst qtptptpitt ttvtptptpt
     1981 stqrttptsi tttttvtptp tptgtqtptt tpitttttvt ptptptgtqt ptttpisttt
     2041 tvtptptptg tqtltptpit ttttvtptpt ptgtqtptst pitttttvtp tptptgtqtp
     2101 tltpittttt vtptptptgt qtptttpitt tttvtptptp tgtksttpts ittttmvtpt
     2161 ppptgtqtpt ttpitttttv tptptptgtq tptptpittt ttvtptptpt gtqtptstpi
     2221 ttnttvtptp tptgtpsttl tpitttttvt ptptptgtqt ptstpisttt mvtptptptg
     2281 tqtptptpis ttttvtptpt ptgtqtptpt pitttttvtp tptptgtqtp tstpittttt
     2341 vtptptptgt qtptttpitt nttvtptptp tgtqtpttvl itttttmtpt ptptstkstt
     2401 vtpitttttv tptptptgtq sttltpittt ttvtptptpt giqtptttpi sttttvtptp
     2461 tptgtqtpts tpitttttvt ptptptgtqt ptstpisttt tvtptatptg tqtptltpit
     2521 ttttvtptpt ptgtksttpt sitttttvtp tptptgtqtp tttpittttt vtptptptgt
     2581 qtptptpitt tttvtptptp tstqtptstp itttttvtpt ptptgtqtpt ttpitttttv
     2641 tptptptgtq aptptaittt ttgtptptpt gtqtptttpi tttttvtptp tptgtqsptp
     2701 taitttttvt ptptptgtqt ptttpitttt tvtptptptg tqsttltpit ttttvtptpt
     2761 ptgtqtptst pitttitvtp tptptgtqtp tptpistttt vtptptptgt qtptstpitt
     2821 tttvtptptp tgtqtptttp isttttvtpt ptptgtqtpt stpitttttv tptptptgtq
     2881 tptttpistt ttvtptptpt gtqtptstpi tttttvtptp tptgtqtptp tpitttttvt
     2941 ptptptgtqt ptstpitttt tvtptptptg tqtptptpit ttttvtptpt ptgtqtptpt
     3001 pitttttvtp tptptgtqtp tstpittttt vtptptptgt qtptttpitt tttvtptptp
     3061 tgtqsttltp itttttvtpt ptptgtqtpt stpittittv tptptptgtq tptptpistt
     3121 ttvtptptpt gtqtptmtpi tttttvtptp tptgtqtptt tpisttttvt ptptptgtqt
     3181 ptstpitttt tvtptptptg tqtptttpit ttttvtptpt ptgtqsttlt pitttttvtp
     3241 tptptgtqtp tptpistttt vtptptptgt qtptmtpitt tttvtptptp tgtqtptttp
     3301 isttttvtpt ptptgtqtpr stpittttkv tptptptgtq tptptpittt ttvtptptpt
     3361 gtqaptpaai tttstvtptp tptgtqtptt tpitttttvt ptptptgtqs ttltpitttt
     3421 tvtptptptg tqtptstpit ttttvtptpt ptgtqtptpt pisttstvtp tptptgtqtp
     3481 tmtpittttt vtptptptgt qtptttpist tttvtptptp tgtqnptstp itttttvtpt
     3541 ptptgtqtpt mtpitttttv tptptptgtq aptptaittt ttvtptptpt gtqtptttpi
     3601 tttttvtptp iptgtqsttl tpitttttvt ptptptgtqt ptpipisttt tvtptptptg
     3661 tqtptmtpit ttttvtptpt ptgtqtpttt pisttttvtp tptptgtqtp tstpittttt
     3721 vtptpiptgt qtptttpitt tttvtptptp tgtqaptpta itttttvtpt ptptgtqtpt
     3781 ttpitttttv tptpiptgtq sttltpittt ttvtptptpt stqtptptpi sttttvtptp
     3841 tptgtqtptm tpitttttvt ptptptgtqt ptttpisttt tvtptptptg tqtptstpit
     3901 ttttvtptpt stgtqtpttt pitttttvtp tptptgtqap tptaitttst vtptptptgt
     3961 qtptttpitt tttvtptptp tgtqsptpta itttttvtpt ptptgtqtpt stpitttttv
     4021 tptptptgtq tptptpistt ttvtptptpt gtqtptttpi tttttvtptp tptgtqtptt
     4081 vlitttttmt ptptptstks ttvtpitttt tvtatptptg tqtptmipis ttttvtptpt
     4141 pttgstgppt htstapiael ttsnpppess tpqtsrstss pltesttlls tlppaiemts
     4201 tappstptap tttsgghtls pppstttspp gtptrgtttg sssaptpstv qttttsawtp
     4261 tptplstpsi irttglrpyp ssvliccvln dtyyapgeev yngtygdtcy fvncslsctl
     4321 efynwscpst psptptpsks tptpskpsst pskptpgtkp pecpdfdppr qenetwwlcd
     4381 cfmatckynn tveivkvece pppmptcsng lqpvrvedpd gccwhwecdc yctgwgdphy
     4441 vtfdglyysy qgnctyvlve eispsvdnfg vyidnyhcdp ndkvscprtl ivrhetqevl
     4501 iktvhmmpmq vqvqvnrqav alpykkygle vyqsginyvv dipelgvlvs ynglsfsvrl
     4561 pyhrfgnntk gqcgtctntt sddcilpsge ivsnceaaad qwlvndpskp hcphsssttk
     4621 rpavtvpggg kttphkdctp splcqlikds lfaqchalvp pqhyydacvf dscfmpgssl
     4681 ecaslqayaa lcaqqnicld wrnhthgacl vecpshreyq acgpaeeptc kssssqqnnt
     4741 vlvegcfcpe gtmnyapgfd vcvktcgcvg pdnvprefge hfefdckncv cleggsgiic
     4801 qpkrcsqkpv thcvedgtyl atevnpadtc cnitvckcnt slckekpsvc plgfevkskm
     4861 vpgrccpfyw ceskgvcvhg naeyqpgspv ysskcqdcvc tdkvdnntll nviacthvpc
     4921 ntscspgfel meapgecckk ceqthciikr pdnqhvilkp gdfksdpknn ctffscvkih
     4981 nqlissvsni tcpnfdasic ipgsitfmpn gccktctprn etrvpcstvp vttevsyagc
     5041 tktvlmnhcs gscgtfvmys akaqaldhsc scckeektsq revvlscpng gslthtythi
     5101 escqcqdtvc glptgtsrra rrsprhlgsg
//
LOCUS       NP_001290547             336 aa            linear   PRI 25-MAR-2023
DEFINITION  CD226 antigen isoform a precursor [Homo sapiens].
ACCESSION   NP_001290547 XP_006722436
VERSION     NP_001290547.1
DBSOURCE    REFSEQ: accession NM_001303618.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 336)
  AUTHORS   Milito ND, Zingoni A, Stabile H, Soriani A, Capuano C, Cippitelli
            M, Gismondi A, Santoni A, Paolini R and Molfetta R.
  TITLE     NKG2D engagement on human NK cells leads to DNAM-1
            hypo-responsiveness through different converging mechanisms
  JOURNAL   Eur J Immunol 53 (2), e2250198 (2023)
   PUBMED   36440686
  REMARK    GeneRIF: NKG2D engagement on human NK cells leads to DNAM-1
            hypo-responsiveness through different converging mechanisms.
REFERENCE   2  (residues 1 to 336)
  AUTHORS   Del Bello A, Gouin A, Chaubet C, Kamar N and Treiner E.
  TITLE     The CD226/TIGIT axis is involved in T cell hypo-responsiveness
            appearance in long-term kidney transplant recipients
  JOURNAL   Sci Rep 12 (1), 11821 (2022)
   PUBMED   35821240
  REMARK    GeneRIF: The CD226/TIGIT axis is involved in T cell
            hypo-responsiveness appearance in long-term kidney transplant
            recipients.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 336)
  AUTHORS   Yasutomi M, Christiaansen AF, Imai N, Martin-Orozco N, Forst CV,
            Chen G and Ueno H.
  TITLE     CD226 and TIGIT Cooperate in the Differentiation and Maturation of
            Human Tfh Cells
  JOURNAL   Front Immunol 13, 840457 (2022)
   PUBMED   35273617
  REMARK    GeneRIF: CD226 and TIGIT Cooperate in the Differentiation and
            Maturation of Human Tfh Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 336)
  AUTHORS   Shang QN, Yu XX, Xu ZL, Cao XH, Liu XF, Zhao XS, Chang YJ, Wang Y,
            Zhang XH, Xu LP, Liu KY, Huang XJ and Zhao XY.
  TITLE     Functional Competence of NK Cells via the KIR/MHC Class I
            Interaction Correlates with DNAM-1 Expression
  JOURNAL   J Immunol 208 (2), 492-500 (2022)
   PUBMED   34937746
  REMARK    GeneRIF: Functional Competence of NK Cells via the KIR/MHC Class I
            Interaction Correlates with DNAM-1 Expression.
REFERENCE   5  (residues 1 to 336)
  AUTHORS   Jian JL, Zhu CS, Xu ZW, Ouyang WM, Ma DC, Zhang Y, Chen LJ, Yang AG
            and Jin BQ.
  TITLE     Identification and characterization of the CD226 gene promoter
  JOURNAL   J Biol Chem 281 (39), 28731-28736 (2006)
   PUBMED   16887814
  REMARK    GeneRIF: CD226 promoters P1 and P2 are regulated by Ets-1 and AP-1
REFERENCE   6  (residues 1 to 336)
  AUTHORS   Shibuya K, Shirakawa J, Kameyama T, Honda S, Tahara-Hanaoka S,
            Miyamoto A, Onodera M, Sumida T, Nakauchi H, Miyoshi H and Shibuya
            A.
  TITLE     CD226 (DNAM-1) is involved in lymphocyte function-associated
            antigen 1 costimulatory signal for naive T cell differentiation and
            proliferation
  JOURNAL   J Exp Med 198 (12), 1829-1839 (2003)
   PUBMED   14676297
  REMARK    GeneRIF: CD226 is involved in LFA-1-mediated costimulatory signals
            for triggering naive T cell differentiation and proliferation.
REFERENCE   7  (residues 1 to 336)
  AUTHORS   Kojima H, Kanada H, Shimizu S, Kasama E, Shibuya K, Nakauchi H,
            Nagasawa T and Shibuya A.
  TITLE     CD226 mediates platelet and megakaryocytic cell adhesion to
            vascular endothelial cells
  JOURNAL   J Biol Chem 278 (38), 36748-36753 (2003)
   PUBMED   12847109
  REMARK    GeneRIF: CD226 mediates platelet and megakaryocytic cell adhesion
            to vascular endothelial cells
REFERENCE   8  (residues 1 to 336)
  AUTHORS   Bottino C, Castriconi R, Pende D, Rivera P, Nanni M, Carnemolla B,
            Cantoni C, Grassi J, Marcenaro S, Reymond N, Vitale M, Moretta L,
            Lopez M and Moretta A.
  TITLE     Identification of PVR (CD155) and Nectin-2 (CD112) as cell surface
            ligands for the human DNAM-1 (CD226) activating molecule
  JOURNAL   J Exp Med 198 (4), 557-567 (2003)
   PUBMED   12913096
  REMARK    GeneRIF: Data show that both PVR and Nectin-2 represent specific
            ligands for the DNAM-1 triggering receptor.
REFERENCE   9  (residues 1 to 336)
  AUTHORS   Shibuya K, Lanier LL, Phillips JH, Ochs HD, Shimizu K, Nakayama E,
            Nakauchi H and Shibuya A.
  TITLE     Physical and functional association of LFA-1 with DNAM-1 adhesion
            molecule
  JOURNAL   Immunity 11 (5), 615-623 (1999)
   PUBMED   10591186
REFERENCE   10 (residues 1 to 336)
  AUTHORS   Shibuya A, Campbell D, Hannum C, Yssel H, Franz-Bacon K, McClanahan
            T, Kitamura T, Nicholl J, Sutherland GR, Lanier LL and Phillips JH.
  TITLE     DNAM-1, a novel adhesion molecule involved in the cytolytic
            function of T lymphocytes
  JOURNAL   Immunity 4 (6), 573-581 (1996)
   PUBMED   8673704
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091137.23, AK313199.1,
            U56102.1 and AC090231.7.
            On Jan 13, 2015 this sequence version replaced XP_006722436.1.
            
            Summary: This gene encodes a glycoprotein expressed on the surface
            of NK cells, platelets, monocytes and a subset of T cells. It is a
            member of the Ig-superfamily containing 2 Ig-like domains of the
            V-set. The protein mediates cellular adhesion of platelets and
            megakaryocytic cells to vascular endothelial cells. The protein
            also plays a role in megakaryocytic cell maturation. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jan 2015].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.200985.1,
                                           SRR1163658.61089.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155751 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000582621.6/ ENSP00000461947.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..336
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q22.2"
     Protein         1..336
                     /product="CD226 antigen isoform a precursor"
                     /note="platelet and T cell activation antigen 1; DNAX
                     accessory molecule-1; T lineage-specific activation
                     antigen 1 antigen; CD226 antigen; adhesion glycoprotein"
                     /calculated_mol_wt=36527
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2106
     Region          17..127
                     /region_name="IgV_1_DNAM-1_like"
                     /note="First immunoglobulin variable (IgV) domain of DNAX
                     accessory molecule 1, and similar domains; cd05889"
                     /db_xref="CDD:409472"
     Region          17..21
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409472"
     mat_peptide     19..336
                     /product="CD226 antigen. /id=PRO_0000014665"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15762.2)"
                     /calculated_mol_wt=36527
     Region          19..40
                     /region_name="FR1"
                     /note="FR1 [structural motif]"
                     /db_xref="CDD:409472"
     Region          23..29
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409472"
     Site            order(31..38,45..53,59..71,91..97,102..116,119..127)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:409472"
     Region          32..40
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409472"
     Site            32
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15762.2)"
     Region          41..45
                     /region_name="CDR1"
                     /note="CDR1 [structural motif]"
                     /db_xref="CDD:409472"
     Region          45..52
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409472"
     Region          46..52
                     /region_name="FR2"
                     /note="FR2 [structural motif]"
                     /db_xref="CDD:409472"
     Region          53..71
                     /region_name="CDR2"
                     /note="CDR2 [structural motif]"
                     /db_xref="CDD:409472"
     Region          59..66
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409472"
     Region          68..72
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409472"
     Region          72..112
                     /region_name="FR3"
                     /note="FR3 [structural motif]"
                     /db_xref="CDD:409472"
     Region          79..83
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409472"
     Site            83
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15762.2)"
     Region          90..97
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409472"
     Site            90
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15762.2)"
     Site            97
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15762.2)"
     Region          104..112
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409472"
     Region          113..116
                     /region_name="CDR3"
                     /note="CDR3 [structural motif]"
                     /db_xref="CDD:409472"
     Region          116..126
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409472"
     Region          117..127
                     /region_name="FR4"
                     /note="FR4 [structural motif]"
                     /db_xref="CDD:409472"
     Region          140..222
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Site            147
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15762.2)"
     Region          148..152
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          162..166
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Site            186
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15762.2)"
     Site            198
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15762.2)"
     Region          204..209
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Site            231
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15762.2)"
     Site            255..275
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15762.2)"
     Region          297..316
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15762.2)"
     Site            322
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q15762.2)"
     CDS             1..336
                     /gene="CD226"
                     /gene_synonym="DNAM-1; DNAM1; PTA1; TLiSA1"
                     /coded_by="NM_001303618.2:468..1478"
                     /note="isoform a precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS11997.1"
                     /db_xref="GeneID:10666"
                     /db_xref="HGNC:HGNC:16961"
                     /db_xref="MIM:605397"
ORIGIN      
        1 mdyptlllal lhvyralcee vlwhtsvpfa enmslecvyp smgiltqvew fkigtqqdsi
       61 aifspthgmv irkpyaervy flnstmasnn mtlffrnase ddvgyyscsl ytypqgtwqk
      121 viqvvqsdsf eaavpsnshi vsepgknvtl tcqpqmtwpv qavrwekiqp rqidlltycn
      181 lvhgrnftsk fprqivsncs hgrwsvivip dvtvsdsgly rcylqasage netfvmrltv
      241 aegktdnqyt lfvaggtvll llfvisitti iviflnrrrr rerrdlftes wdtqkapnny
      301 rspistsqpt nqsmddtred iyvnyptfsr rpktrv
//
LOCUS       NP_001394527            1863 aa            linear   PRI 25-MAR-2023
DEFINITION  breast cancer type 1 susceptibility protein isoform 1 [Homo
            sapiens].
ACCESSION   NP_001394527
VERSION     NP_001394527.1
DBSOURCE    REFSEQ: accession NM_001407598.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1863)
  AUTHORS   Orban TI and Olah E.
  TITLE     Emerging roles of BRCA1 alternative splicing
  JOURNAL   Mol Pathol 56 (4), 191-197 (2003)
   PUBMED   12890739
  REMARK    Review article
REFERENCE   2  (residues 1 to 1863)
  AUTHORS   Orban TI and Olah E.
  TITLE     Expression profiles of BRCA1 splice variants in asynchronous and in
            G1/S synchronized tumor cell lines
  JOURNAL   Biochem Biophys Res Commun 280 (1), 32-38 (2001)
   PUBMED   11162473
REFERENCE   3  (residues 1 to 1863)
  AUTHORS   Paterson JW.
  TITLE     BRCA1: a review of structure and putative functions
  JOURNAL   Dis Markers 13 (4), 261-274 (1998)
   PUBMED   9553742
  REMARK    Review article
REFERENCE   4  (residues 1 to 1863)
  AUTHORS   Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S,
            Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E.
  TITLE     Mutations and alternative splicing of the BRCA1 gene in UK
            breast/ovarian cancer families
  JOURNAL   Genes Chromosomes Cancer 18 (2), 102-110 (1997)
   PUBMED   9115959
REFERENCE   5  (residues 1 to 1863)
  AUTHORS   Wilson CA, Payton MN, Elliott GS, Buaas FW, Cajulis EE, Grosshans
            D, Ramos L, Reese DM, Slamon DJ and Calzone FJ.
  TITLE     Differential subcellular localization, expression and biological
            toxicity of BRCA1 and the splice variant BRCA1-delta11b
  JOURNAL   Oncogene 14 (1), 1-16 (1997)
   PUBMED   9010228
REFERENCE   6  (residues 1 to 1863)
  AUTHORS   Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, Yao J, Farid
            LM, Couch FJ, Wilson RB and Weber BL.
  TITLE     Localization of BRCA1 and a splice variant identifies the nuclear
            localization signal
  JOURNAL   Mol Cell Biol 17 (1), 444-452 (1997)
   PUBMED   8972225
REFERENCE   7  (residues 1 to 1863)
  AUTHORS   Lu M, Conzen SD, Cole CN and Arrick BA.
  TITLE     Characterization of functional messenger RNA splice variants of
            BRCA1 expressed in nonmalignant and tumor-derived breast cells
  JOURNAL   Cancer Res 56 (20), 4578-4581 (1996)
   PUBMED   8840964
REFERENCE   8  (residues 1 to 1863)
  AUTHORS   Holt JT, Thompson ME, Szabo C, Robinson-Benion C, Arteaga CL, King
            MC and Jensen RA.
  TITLE     Growth retardation and tumour inhibition by BRCA1
  JOURNAL   Nat Genet 12 (3), 298-302 (1996)
   PUBMED   8589721
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
REFERENCE   9  (residues 1 to 1863)
  AUTHORS   Xu CF, Brown MA, Chambers JA, Griffiths B, Nicolai H and Solomon E.
  TITLE     Distinct transcription start sites generate two forms of BRCA1 mRNA
  JOURNAL   Hum Mol Genet 4 (12), 2259-2264 (1995)
   PUBMED   8634696
REFERENCE   10 (residues 1 to 1863)
  AUTHORS   Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K,
            Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al.
  TITLE     A strong candidate for the breast and ovarian cancer susceptibility
            gene BRCA1
  JOURNAL   Science 266 (5182), 66-71 (1994)
   PUBMED   7545954
REFERENCE   11 (residues 1 to 1863)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
REFERENCE   12 (residues 1 to 1863)
  AUTHORS   Petrucelli,N., Daly,M.B. and Pal,T.
  TITLE     BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135721.4.
            
            Summary: This gene encodes a 190 kD nuclear phosphoprotein that
            plays a role in maintaining genomic stability, and it also acts as
            a tumor suppressor. The BRCA1 gene contains 22 exons spanning about
            110 kb of DNA. The encoded protein combines with other tumor
            suppressors, DNA damage sensors, and signal transducers to form a
            large multi-subunit protein complex known as the BRCA1-associated
            genome surveillance complex (BASC). This gene product associates
            with RNA polymerase II, and through the C-terminal domain, also
            interacts with histone deacetylase complexes. This protein thus
            plays a role in transcription, DNA repair of double-stranded
            breaks, and recombination. Mutations in this gene are responsible
            for approximately 40% of inherited breast cancers and more than 80%
            of inherited breast and ovarian cancers. Alternative splicing plays
            a role in modulating the subcellular localization and physiological
            function of this gene. Many alternatively spliced transcript
            variants, some of which are disease-associated mutations, have been
            described for this gene, but the full-length natures of only some
            of these variants has been described. A related pseudogene, which
            is also located on chromosome 17, has been identified. [provided by
            RefSeq, May 2020].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2594262.1,
                                           SRR14038197.1239495.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1863
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     Protein         1..1863
                     /product="breast cancer type 1 susceptibility protein
                     isoform 1"
                     /EC_number="2.3.2.27"
                     /note="BRCA1/BRCA2-containing complex, subunit 1; RING
                     finger protein 53; breast cancer type 1 susceptibility
                     protein; breast and ovarian cancer susceptibility protein
                     1; protein phosphatase 1, regulatory subunit 53; Fanconi
                     anemia, complementation group S; early onset breast cancer
                     1; breast cancer 1, early onset"
                     /calculated_mol_wt=207591
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          7..99
                     /region_name="RING-HC_BRCA1"
                     /note="RING finger, HC subclass, found in breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd16498"
                     /db_xref="CDD:438161"
     Site            order(7..8,10..11,13..15,17..18,20,22..23,38,40,42,72,74,
                     76..79,81..82,85..86,88..89,92..93,95..97)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:438161"
     Site            114
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          230..270
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          306..338
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          345..507
                     /region_name="BRCT_assoc"
                     /note="Serine-rich domain associated with BRCT; pfam12820"
                     /db_xref="CDD:432806"
     Site            395
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            398
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            423
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            434
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          534..570
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            551
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          654..709
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            694
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            708
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            725
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48754; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            753
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            840
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48754; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            988
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CHEK2.
                     /evidence=ECO:0000269|PubMed:10724175,
                     ECO:0000269|PubMed:20364141; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1009
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1143
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1181..1216
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1189
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1191
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1211
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1217
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1218
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1280
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1322..1387
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1328
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1336
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1342
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1387
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM and ATR.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1394
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1397..1424
                     /region_name="Interaction with PALB2.
                     /evidence=ECO:0000269|PubMed:19369211"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1423
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM and ATR.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1440..1505
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Site            1457
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATR, in vitro.
                     /evidence=ECO:0000269|PubMed:11114888; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1524
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM.
                     /evidence=ECO:0000269|PubMed:21144835; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Site            1542
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P38398.2)"
     Region          1565..1596
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2)"
     Region          1650..1746
                     /region_name="BRCT_BRCA1_rpt1"
                     /note="first BRCT domain of breast cancer type 1
                     susceptibility protein (BRCA1) and similar proteins;
                     cd17735"
                     /db_xref="CDD:349367"
     Site            order(1654..1656,1658,1698..1702,1704,1740)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349367"
     Region          1758..1855
                     /region_name="BRCT_BRCA1_rpt2"
                     /note="second (C-terminal) BRCT domain of breast cancer
                     type 1 susceptibility protein (BRCA1) and similar
                     proteins; cd17721"
                     /db_xref="CDD:349353"
     Site            order(1774..1775,1835..1836,1840,1852..1853)
                     /site_type="other"
                     /note="ACC1 interaction site [polypeptide binding]"
                     /db_xref="CDD:349353"
     CDS             1..1863
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /coded_by="NM_001407598.1:108..5699"
                     /note="isoform 1 is encoded by transcript variant 18"
                     /db_xref="GeneID:672"
                     /db_xref="HGNC:HGNC:1100"
                     /db_xref="MIM:113705"
ORIGIN      
        1 mdlsalrvee vqnvinamqk ilecpiclel ikepvstkcd hifckfcmlk llnqkkgpsq
       61 cplcknditk rslqestrfs qlveellkii cafqldtgle yansynfakk ennspehlkd
      121 evsiiqsmgy rnrakrllqs epenpslqet slsvqlsnlg tvrtlrtkqr iqpqktsvyi
      181 elgsdssedt vnkatycsvg dqellqitpq gtrdeislds akkaacefse tdvtntehhq
      241 psnndlntte kraaerhpek yqgssvsnlh vepcgtntha sslqhenssl lltkdrmnve
      301 kaefcnkskq pglarsqhnr wagsketcnd rrtpstekkv dlnadplcer kewnkqklpc
      361 senprdtedv pwitlnssiq kvnewfsrsd ellgsddshd gesesnakva dvldvlnevd
      421 eysgssekid llasdpheal ickservhsk svesniedki fgktyrkkas lpnlshvten
      481 liigafvtep qiiqerpltn klkrkrrpts glhpedfikk adlavqktpe minqgtnqte
      541 qngqvmnitn sghenktkgd siqneknpnp ieslekesaf ktkaepisss isnmelelni
      601 hnskapkknr lrrksstrhi halelvvsrn lsppnctelq idscssseei kkkkynqmpv
      661 rhsrnlqlme gkepatgakk snkpneqtsk rhdsdtfpel kltnapgsft kcsntselke
      721 fvnpslpree keekletvkv snnaedpkdl mlsgervlqt ersvesssis lvpgtdygtq
      781 esisllevst lgkaktepnk cvsqcaafen pkglihgcsk dnrndtegfk yplghevnhs
      841 retsiemees eldaqylqnt fkvskrqsfa pfsnpgnaee ecatfsahsg slkkqspkvt
      901 feceqkeenq gknesnikpv qtvnitagfp vvgqkdkpvd nakcsikggs rfclssqfrg
      961 netglitpnk hgllqnpyri pplfpiksfv ktkckknlle enfeehsmsp eremgnenip
     1021 stvstisrnn irenvfkeas ssninevgss tnevgssine igssdeniqa elgrnrgpkl
     1081 namlrlgvlq pevykqslpg snckhpeikk qeyeevvqtv ntdfspylis dnleqpmgss
     1141 hasqvcsetp ddllddgeik edtsfaendi kessavfsks vqkgelsrsp spfththlaq
     1201 gyrrgakkle sseenlssed eelpcfqhll fgkvnnipsq strhstvate clsknteenl
     1261 lslknslndc snqvilakas qehhlseetk csaslfssqc seledltant ntqdpfligs
     1321 skqmrhqses qgvglsdkel vsddeergtg leennqeeqs mdsnlgeaas gcesetsvse
     1381 dcsglssqsd ilttqqrdtm qhnliklqqe maeleavleq hgsqpsnsyp siisdssale
     1441 dlrnpeqsts ekavltsqks seypisqnpe glsadkfevs adsstsknke pgversspsk
     1501 cpslddrwym hscsgslqnr nypsqeelik vvdveeqqle esgphdltet sylprqdleg
     1561 tpylesgisl fsddpesdps edrapesarv gnipsstsal kvpqlkvaes aqspaaahtt
     1621 dtagynamee svsrekpelt astervnkrm smvvsgltpe efmlvykfar khhitltnli
     1681 teetthvvmk tdaefvcert lkyflgiagg kwvvsyfwvt qsikerkmln ehdfevrgdv
     1741 vngrnhqgpk raresqdrki frgleiccyg pftnmptdql ewmvqlcgas vvkelssftl
     1801 gtgvhpivvv qpdawtedng fhaigqmcea pvvtrewvld svalyqcqel dtylipqiph
     1861 shy
//
LOCUS       NP_001035548             941 aa            linear   PRI 26-MAR-2023
DEFINITION  endoplasmic reticulum aminopeptidase 1 isoform b precursor [Homo
            sapiens].
ACCESSION   NP_001035548
VERSION     NP_001035548.1
DBSOURCE    REFSEQ: accession NM_001040458.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 941)
  AUTHORS   Paldino G and Fierabracci A.
  TITLE     Shedding new light on the role of ERAP1 in Type 1 diabetes: A
            perspective on disease management
  JOURNAL   Autoimmun Rev 22 (4), 103291 (2023)
   PUBMED   36740089
  REMARK    GeneRIF: Shedding new light on the role of ERAP1 in Type 1
            diabetes: A perspective on disease management.
            Review article
REFERENCE   2  (residues 1 to 941)
  AUTHORS   Hur B, Wong V and Lee ED.
  TITLE     A Comparative Review of Pregnancy and Cancer and Their Association
            with Endoplasmic Reticulum Aminopeptidase 1 and 2
  JOURNAL   Int J Mol Sci 24 (4), 3454 (2023)
   PUBMED   36834865
  REMARK    GeneRIF: A Comparative Review of Pregnancy and Cancer and Their
            Association with Endoplasmic Reticulum Aminopeptidase 1 and 2.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 941)
  AUTHORS   Abo El Nazar S, Ghazy AA, Amer I, Tawfik S, Nassar M and Osman EM.
  TITLE     Genetic polymorphisms of Endoplasmic reticulum amino peptidase 1
            (ERAP1) and Interferon lambda 4 (IFN-lambda4) in Egyptian patients
            with type 1 diabetes mellitus
  JOURNAL   Egypt J Immunol 30 (1), 116-124 (2023)
   PUBMED   36592387
  REMARK    GeneRIF: Genetic polymorphisms of Endoplasmic reticulum amino
            peptidase 1 (ERAP1) and Interferon lambda 4 (IFN-lambda4) in
            Egyptian patients with type 1 diabetes mellitus.
REFERENCE   4  (residues 1 to 941)
  AUTHORS   Martin-Esteban A, Rodriguez JC, Peske D, Lopez de Castro JA,
            Shastri N and Sadegh-Nasseri S.
  TITLE     The ER Aminopeptidases, ERAP1 and ERAP2, synergize to self-modulate
            their respective activities
  JOURNAL   Front Immunol 13, 1066483 (2022)
   PUBMED   36569828
  REMARK    GeneRIF: The ER Aminopeptidases, ERAP1 and ERAP2, synergize to
            self-modulate their respective activities.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 941)
  AUTHORS   Liu S, Lu J, Wu J, Feng D, Wang Y, Su X and Cao H.
  TITLE     Structural and biochemical insights into the association between
            ERAP1 polymorphism and autoimmune diseases
  JOURNAL   Biochem Biophys Res Commun 632, 189-194 (2022)
   PUBMED   36228519
  REMARK    GeneRIF: Structural and biochemical insights into the association
            between ERAP1 polymorphism and autoimmune diseases.
            Review article
REFERENCE   6  (residues 1 to 941)
  AUTHORS   Cui X, Hawari F, Alsaaty S, Lawrence M, Combs CA, Geng W, Rouhani
            FN, Miskinis D and Levine SJ.
  TITLE     Identification of ARTS-1 as a novel TNFR1-binding protein that
            promotes TNFR1 ectodomain shedding
  JOURNAL   J Clin Invest 110 (4), 515-526 (2002)
   PUBMED   12189246
  REMARK    GeneRIF: ARTS-1 has been identified as a novel TNFR1 binding
            protein that promotes TNFR1 shedding.
REFERENCE   7  (residues 1 to 941)
  AUTHORS   Yamamoto N, Nakayama J, Yamakawa-Kobayashi K, Hamaguchi H, Miyazaki
            R and Arinami T.
  TITLE     Identification of 33 polymorphisms in the adipocyte-derived leucine
            aminopeptidase (ALAP) gene and possible association with
            hypertension
  JOURNAL   Hum Mutat 19 (3), 251-257 (2002)
   PUBMED   11857741
  REMARK    GeneRIF: Association has been confirmed between the Lys528Arg
            polymorphism of the adipocyte-derived leucine aminopeptidase gene
            and essential hypertension.
REFERENCE   8  (residues 1 to 941)
  AUTHORS   Hattori A, Matsumoto K, Mizutani S and Tsujimoto M.
  TITLE     Genomic organization of the human adipocyte-derived leucine
            aminopeptidase gene and its relationship to the placental leucine
            aminopeptidase/oxytocinase gene
  JOURNAL   J Biochem 130 (2), 235-241 (2001)
   PUBMED   11481040
REFERENCE   9  (residues 1 to 941)
  AUTHORS   Hattori A, Kitatani K, Matsumoto H, Miyazawa S, Rogi T, Tsuruoka N,
            Mizutani S, Natori Y and Tsujimoto M.
  TITLE     Characterization of recombinant human adipocyte-derived leucine
            aminopeptidase expressed in Chinese hamster ovary cells
  JOURNAL   J Biochem 128 (5), 755-762 (2000)
   PUBMED   11056387
REFERENCE   10 (residues 1 to 941)
  AUTHORS   Hattori A, Matsumoto H, Mizutani S and Tsujimoto M.
  TITLE     Molecular cloning of adipocyte-derived leucine aminopeptidase
            highly related to placental leucine aminopeptidase/oxytocinase
  JOURNAL   J Biochem 125 (5), 931-938 (1999)
   PUBMED   10220586
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA704693.1, DA327238.1,
            AF222340.1 and AC008906.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is an aminopeptidase
            involved in trimming HLA class I-binding precursors so that they
            can be presented on MHC class I molecules. The encoded protein acts
            as a monomer or as a heterodimer with ERAP2. This protein may also
            be involved in blood pressure regulation by inactivation of
            angiotensin II. Three transcript variants encoding two different
            isoforms have been found for this gene.[provided by RefSeq, Oct
            2010].
            
            Transcript Variant: This variant (2) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (b)
            has a shorter and distinct C-terminus compared to isoform a.
            Variants 2 and 3 both encode the same isoform.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF183569.1, AF222340.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000443439.7/ ENSP00000406304.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..941
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q15"
     Protein         1..941
                     /product="endoplasmic reticulum aminopeptidase 1 isoform b
                     precursor"
                     /note="aminopeptidase regulator of TNFR1 shedding;
                     puromycin-insensitive leucyl-specific aminopeptidase;
                     aminopeptidase PILS; adipocyte-derived leucine
                     aminopeptidase; endoplasmic reticulum aminopeptidase
                     associated with antigen processing; type 1 tumor necrosis
                     factor receptor shedding aminopeptidase regulator"
                     /calculated_mol_wt=103696
     sig_peptide     1..32
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3557
     Site            2..21
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NZ08.3)"
     Region          61..526
                     /region_name="M1_APN-Q_like"
                     /note="Peptidase M1 aminopeptidase N catalytic domain
                     family which includes aminopeptidase N (APN),
                     aminopeptidase Q (APQ), tricorn interacting factor F3, and
                     endoplasmic reticulum aminopeptidase 1 (ERAP1); cd09601"
                     /db_xref="CDD:341064"
     Site            70
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21478864, ECO:0000269|Ref.16;
                     propagated from UniProtKB/Swiss-Prot (Q9NZ08.3)"
     Site            154
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21478864, ECO:0000269|Ref.16;
                     propagated from UniProtKB/Swiss-Prot (Q9NZ08.3)"
     Site            order(181,183,317..320,353..354,357,376,380,433,438)
                     /site_type="active"
                     /db_xref="CDD:341064"
     Site            414
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218, ECO:0000269|Ref.16;
                     propagated from UniProtKB/Swiss-Prot (Q9NZ08.3)"
     Site            438
                     /site_type="other"
                     /note="Transition state stabilizer. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q9NZ08.3)"
     Region          597..916
                     /region_name="ERAP1_C"
                     /note="ERAP1-like C-terminal domain; pfam11838"
                     /db_xref="CDD:403137"
     Site            760
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21478864; propagated from
                     UniProtKB/Swiss-Prot (Q9NZ08.3)"
     Site            901
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NZ08.3)"
     CDS             1..941
                     /gene="ERAP1"
                     /gene_synonym="A-LAP; ALAP; APPILS; ARTS-1; ARTS1; ERAAP;
                     ERAAP1; PILS-AP; PILSAP"
                     /coded_by="NM_001040458.3:104..2929"
                     /note="isoform b precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS47250.1"
                     /db_xref="GeneID:51752"
                     /db_xref="HGNC:HGNC:18173"
                     /db_xref="MIM:606832"
ORIGIN      
        1 mvflplkwsl atmsfllssl lalltvstps wcqsteaspk rsdgtpfpwn kirlpeyvip
       61 vhydllihan lttltfwgtt kveitasqpt stiilhshhl qisratlrkg agerlseepl
      121 qvlehprqeq iallapepll vglpytvvih yagnlsetfh gfykstyrtk egelrilast
      181 qfeptaarma fpcfdepafk asfsikirre prhlaisnmp lvksvtvaeg liedhfdvtv
      241 kmstylvafi isdfesvski tksgvkvsvy avpdkinqad yaldaavtll efyedyfsip
      301 yplpkqdlaa ipdfqsgame nwglttyres allfdaekss assklgitmt vahelahqwf
      361 gnlvtmewwn dlwlnegfak fmefvsvsvt hpelkvgdyf fgkcfdamev dalnsshpvs
      421 tpvenpaqir emfddvsydk gacilnmlre ylsadafksg ivqylqkhsy kntknedlwd
      481 smasicptdg vkgmdgfcsr sqhssssshw hqegvdvktm mntwtlqkgf plititvrgr
      541 nvhmkqehym kgsdgapdtg ylwhvpltfi tsksdmvhrf llktktdvli lpeevewikf
      601 nvgmngyyiv hyeddgwdsl tgllkgthta vssndrasli nnafqlvsig klsiekaldl
      661 slylkhetei mpvfqglnel ipmyklmekr dmnevetqfk aflirllrdl idkqtwtdeg
      721 svsermlrsq llllacvhny qpcvqraegy frkwkesngn lslpvdvtla vfavgaqste
      781 gwdflyskyq fslssteksq iefalcrtqn keklqwllde sfkgdkiktq efpqiltlig
      841 rnpvgyplaw qflrknwnkl vqkfelgsss iahmvmgttn qfstrtrlee vkgffsslke
      901 ngsqlrcvqq tietieenig wmdknfdkir vwlqsekler m
//
LOCUS       NP_001137303            1212 aa            linear   PRI 26-MAR-2023
DEFINITION  metabotropic glutamate receptor 5 isoform a precursor [Homo
            sapiens].
ACCESSION   NP_001137303 XP_006718891
VERSION     NP_001137303.1
DBSOURCE    REFSEQ: accession NM_001143831.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1212)
  AUTHORS   Zeng S, Tao M, Yuan L, Zhang L and Luo X.
  TITLE     Inhibition of mGluR5 ameliorates lipid accumulation and
            inflammation in HepG2 cells
  JOURNAL   Biochem Biophys Res Commun 653, 1-11 (2023)
   PUBMED   36842305
  REMARK    GeneRIF: Inhibition of mGluR5 ameliorates lipid accumulation and
            inflammation in HepG2 cells.
REFERENCE   2  (residues 1 to 1212)
  AUTHORS   Carey C, Singh N, Dunn JT, Sementa T, Mendez MA, Velthuis H,
            Pereira AC, Pretzsch CM, Horder J, Hader S, Lythgoe DJ, Rotaru DG,
            Gee A, Cash D, Veronese M, Murphy D and McAlonan G.
  TITLE     From bench to bedside: The mGluR5 system in people with and without
            Autism Spectrum Disorder and animal model systems
  JOURNAL   Transl Psychiatry 12 (1), 395 (2022)
   PUBMED   36127322
  REMARK    GeneRIF: From bench to bedside: The mGluR5 system in people with
            and without Autism Spectrum Disorder and animal model systems.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1212)
  AUTHORS   Song M, Liu Y, Wang XJ, Zhang LW, Liu Q, Chen TF, Su X, Li WW, Lyu
            LX and Yang YF.
  TITLE     [Association of glutamate receptor metabotropic 5 polymorphisms
            with schizophrenia susceptibility in a Chinese Han population]
  JOURNAL   Zhonghua Yi Xue Za Zhi 102 (27), 2108-2114 (2022)
   PUBMED   35844113
  REMARK    GeneRIF: [Association of glutamate receptor metabotropic 5
            polymorphisms with schizophrenia susceptibility in a Chinese Han
            population].
REFERENCE   4  (residues 1 to 1212)
  AUTHORS   Regio Brambilla C, Veselinovic T, Rajkumar R, Mauler J, Matusch A,
            Ruch A, Orth L, Ramkiran S, Sbaihat H, Kaulen N, Khudeish NY, Wyss
            C, Heekeren K, Kawohl W, Rota Kops E, Tellmann L, Scheins J, Boers
            F, Neumaier B, Ermert J, Lang M, Stusgen S, Herzog H, Langen KJ,
            Shah NJ, Lerche CW and Neuner I.
  TITLE     mGluR5 binding changes during a mismatch negativity task in a
            multimodal protocol with [11C]ABP688 PET/MR-EEG
  JOURNAL   Transl Psychiatry 12 (1), 6 (2022)
   PUBMED   35013095
  REMARK    GeneRIF: mGluR5 binding changes during a mismatch negativity task
            in a multimodal protocol with [(11)C]ABP688 PET/MR-EEG.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1212)
  AUTHORS   Abd-Elrahman KS and Ferguson SSG.
  TITLE     Noncanonical Metabotropic Glutamate Receptor 5 Signaling in
            Alzheimer's Disease
  JOURNAL   Annu Rev Pharmacol Toxicol 62, 235-254 (2022)
   PUBMED   34516293
  REMARK    GeneRIF: Noncanonical Metabotropic Glutamate Receptor 5 Signaling
            in Alzheimer's Disease.
            Review article
REFERENCE   6  (residues 1 to 1212)
  AUTHORS   Nash MS, Schell MJ, Atkinson PJ, Johnston NR, Nahorski SR and
            Challiss RA.
  TITLE     Determinants of metabotropic glutamate receptor-5-mediated Ca2+ and
            inositol 1,4,5-trisphosphate oscillation frequency. Receptor
            density versus agonist concentration
  JOURNAL   J Biol Chem 277 (39), 35947-35960 (2002)
   PUBMED   12119301
  REMARK    GeneRIF: mGLUR5 and 1,4,5-InsP3 signaling control calcium release
REFERENCE   7  (residues 1 to 1212)
  AUTHORS   Devon RS, Anderson S, Teague PW, Muir WJ, Murray V, Pelosi AJ,
            Blackwood DH and Porteous DJ.
  TITLE     The genomic organisation of the metabotropic glutamate receptor
            subtype 5 gene, and its association with schizophrenia
  JOURNAL   Mol Psychiatry 6 (3), 311-314 (2001)
   PUBMED   11326300
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 1212)
  AUTHORS   Daggett LP, Sacaan AI, Akong M, Rao SP, Hess SD, Liaw C, Urrutia A,
            Jachec C, Ellis SB, Dreessen J et al.
  TITLE     Molecular and functional characterization of recombinant human
            metabotropic glutamate receptor subtype 5
  JOURNAL   Neuropharmacology 34 (8), 871-886 (1995)
   PUBMED   8532169
REFERENCE   9  (residues 1 to 1212)
  AUTHORS   Minakami R, Katsuki F, Yamamoto T, Nakamura K and Sugiyama H.
  TITLE     Molecular cloning and the functional expression of two isoforms of
            human metabotropic glutamate receptor subtype 5
  JOURNAL   Biochem Biophys Res Commun 199 (3), 1136-1143 (1994)
   PUBMED   7908515
REFERENCE   10 (residues 1 to 1212)
  AUTHORS   Minakami R, Katsuki F and Sugiyama H.
  TITLE     A variant of metabotropic glutamate receptor subtype 5: an
            evolutionally conserved insertion with no termination codon
  JOURNAL   Biochem Biophys Res Commun 194 (2), 622-627 (1993)
   PUBMED   7688218
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001482.4, AP000626.5,
            AP001828.5, AP006215.1 and AP003120.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 15, 2020 this sequence version replaced XP_006718891.1.
            
            Summary: This gene encodes a member of the G-protein coupled
            receptor 3 protein family. The encoded protein is a metabatropic
            glutamate receptor, whose signaling activates a
            phosphatidylinositol-calcium second messenger system. This protein
            may be involved in the regulation of neural network activity and
            synaptic plasticity. Glutamatergic neurotransmission is involved in
            most aspects of normal brain function and can be perturbed in many
            neuropathologic conditions. A pseudogene of this gene has been
            defined on chromosome 11. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, May 2014].
            
            Sequence Note:.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2145743,
                              SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305447.5/ ENSP00000306138.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1212
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.2-q14.3"
     Protein         1..1212
                     /product="metabotropic glutamate receptor 5 isoform a
                     precursor"
                     /note="glutamate receptor, metabotropic 5; protein
                     phosphatase 1, regulatory subunit 86"
                     /calculated_mol_wt=130463
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2025
     Region          26..497
                     /region_name="PBP1_mGluR_groupI"
                     /note="ligand binding domain of the group I metabotropic
                     glutamate receptor; cd06374"
                     /db_xref="CDD:380597"
     Site            order(64,152,173..175,223,305,396)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:380597"
     Site            order(103,106..107,110,114,160..161,163..165,186,229,232,
                     247)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:380597"
     Region          508..558
                     /region_name="NCD3G"
                     /note="Nine Cysteines Domain of family 3 GPCR; pfam07562"
                     /db_xref="CDD:429539"
     Region          578..827
                     /region_name="7tmC_mGluR5"
                     /note="metabotropic glutamate receptor 5 in group 1,
                     member of the class C family of seven-transmembrane G
                     protein-coupled receptors; cd15450"
                     /db_xref="CDD:320566"
     Region          578..603
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320566"
     Site            order(581,584..585,588..589,591..592,626,630,633..634,642,
                     646)
                     /site_type="other"
                     /note="putative dimer interface [polypeptide binding]"
                     /db_xref="CDD:320566"
     Region          615..636
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320566"
     Site            order(635,647..648,651..652,655,735,740,743..744,747,781,
                     784..785,788,792,798..799,802,805,809)
                     /site_type="other"
                     /note="putative allosteric modulator binding site
                     [chemical binding]"
                     /db_xref="CDD:320566"
     Region          645..669
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320566"
     Region          693..713
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320566"
     Region          736..762
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320566"
     Region          770..793
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320566"
     Region          796..821
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320566"
     Region          1162..1212
                     /region_name="GluR_Homer-bdg"
                     /note="Homer-binding domain of metabotropic glutamate
                     receptor; pfam10606"
                     /db_xref="CDD:431390"
     CDS             1..1212
                     /gene="GRM5"
                     /gene_synonym="GPRC1E; mGlu5; MGLUR5; PPP1R86"
                     /coded_by="NM_001143831.3:408..4046"
                     /note="isoform a precursor is encoded by transcript
                     variant a"
                     /db_xref="CCDS:CCDS44694.1"
                     /db_xref="GeneID:2915"
                     /db_xref="HGNC:HGNC:4597"
                     /db_xref="MIM:604102"
ORIGIN      
        1 mvlllilsvl llkedvrgsa qsserrvvah mpgdiiigal fsvhhqptvd kvherkcgav
       61 reqygiqrve amlhtlerin sdptllpnit lgceirdscw hsavaleqsi efirdsliss
      121 eeeeglvrcv dgssssfrsk kpivgvigpg sssvaiqvqn llqlfnipqi aysatsmdls
      181 dktlfkyfmr vvpsdaqqar amvdivkryn wtyvsavhte gnygesgmea fkdmsakegi
      241 ciahsykiys nageqsfdkl lkkltshlpk arvvacfceg mtvrgllmam rrlglagefl
      301 llgsdgwadr ydvtdgyqre avggitiklq spdvkwfddy ylklrpetnh rnpwfqefwq
      361 hrfqcrlegf pqenskynkt cnssltlkth hvqdskmgfv inaiysmayg lhnmqmslcp
      421 gyaglcdamk pidgrklles lmktnftgvs gdtilfdeng dspgryeimn fkemgkdyfd
      481 yinvgswdng elkmdddevw skksniirsv csepcekgqi kvirkgevsc cwtctpcken
      541 eyvfdeytck acqlgswptd dltgcdlipv qylrwgdpep iaavvfaclg llatlfvtvv
      601 fiiyrdtpvv ksssrelcyi ilagiclgyl ctfcliakpk qiycylqrig iglspamsys
      661 alvtktnria rilagskkki ctkkprfmsa caqlviafil iciqlgiiva lfimeppdim
      721 hdypsirevy licnttnlgv vtplgyngll ilsctfyafk trnvpanfne akyiaftmyt
      781 tciiwlafvp iyfgsnykii tmcfsvslsa tvalgcmfvp kvyiilakpe rnvrsaftts
      841 tvvrmhvgdg ksssaasrss slvnlwkrrg ssgetlrykd rrlaqhksei ecftpkgsmg
      901 nggratmsss ngksvtwaqn ekssrgqhlw qrlsihinkk enpnqtavik pfpkstesrg
      961 lgagagaggs aggvgatgga gcagagpggp espdagpkal ydvaeaeehf paparprsps
     1021 pistlshrag sasrtdddvp slhsepvars sssqgslmeq issvvtrfta niselnsmml
     1081 staapspgvg aplcssylip keiqlpttmt tfaeiqplpa ievtggaqpa agaqaagdaa
     1141 respaagpea aaakpdleel valtppspfr dsvdsgsttp nspvsesalc ipsspkydtl
     1201 iirdytqsss sl
//
LOCUS       NP_001310580             906 aa            linear   PRI 03-APR-2023
DEFINITION  zinc finger E-box-binding homeobox 1 isoform g [Homo sapiens].
ACCESSION   NP_001310580
VERSION     NP_001310580.1
DBSOURCE    REFSEQ: accession NM_001323651.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 906)
  AUTHORS   Li Y, Yun X, Li J and Bai M.
  TITLE     CSTF2T up-regulates IGHG1 by binding to ZEB1 to promote melanoma
            cell proliferation, migration, and invasion
  JOURNAL   Tissue Cell 81, 102029 (2023)
   PUBMED   36736099
  REMARK    GeneRIF: CSTF2T up-regulates IGHG1 by binding to ZEB1 to promote
            melanoma cell proliferation, migration, and invasion.
REFERENCE   2  (residues 1 to 906)
  AUTHORS   Zeng K, Xie W, Wang C, Wang S, Liu W, Su Y, Lin L, Zou R, Sun G,
            Zhou B, Wang M, Luan R, Bai Y, Huo Y, Kato S, Zhong X and Zhao Y.
  TITLE     USP22 upregulates ZEB1-mediated VEGFA transcription in
            hepatocellular carcinoma
  JOURNAL   Cell Death Dis 14 (3), 194 (2023)
   PUBMED   36906615
  REMARK    GeneRIF: USP22 upregulates ZEB1-mediated VEGFA transcription in
            hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 906)
  AUTHORS   Jin J, Fu L, Hong P and Feng W.
  TITLE     MALAT-1 regulates the AML progression by promoting the m6A
            modification of ZEB1
  JOURNAL   Acta Biochim Pol 70 (1), 37-43 (2023)
   PUBMED   36812496
  REMARK    GeneRIF: MALAT-1 regulates the AML progression by promoting the m6A
            modification of ZEB1.
REFERENCE   4  (residues 1 to 906)
  AUTHORS   Mehta JS, Vithana EN, Tan DT, Yong VH, Yam GH, Law RW, Chong WG,
            Pang CP and Aung T.
  TITLE     Analysis of the posterior polymorphous corneal dystrophy 3 gene,
            TCF8, in late-onset Fuchs endothelial corneal dystrophy
  JOURNAL   Invest Ophthalmol Vis Sci 49 (1), 184-188 (2008)
   PUBMED   18172091
  REMARK    GeneRIF: The identification of a novel missense mutation in only
            one of the patients implied that TCF8 does not play a significant
            role in the pathogenesis of FECD in this Chinese population.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 906)
  AUTHORS   Manavella PA, Roqueiro G, Darling DS and Cabanillas AM.
  TITLE     The ZFHX1A gene is differentially autoregulated by its isoforms
  JOURNAL   Biochem Biophys Res Commun 360 (3), 621-626 (2007)
   PUBMED   17610840
  REMARK    GeneRIF: The Zfhx1a-1 gene is autoregulated in part by negative
            feedback on its own promoter which is, in turn, modified by the
            availability of the negative dominant isoform Zfhx1a-2.
REFERENCE   6  (residues 1 to 906)
  AUTHORS   Liskova P, Tuft SJ, Gwilliam R, Ebenezer ND, Jirsova K, Prescott Q,
            Martincova R, Pretorius M, Sinclair N, Boase DL, Jeffrey MJ,
            Deloukas P, Hardcastle AJ, Filipec M and Bhattacharya SS.
  TITLE     Novel mutations in the ZEB1 gene identified in Czech and British
            patients with posterior polymorphous corneal dystrophy
  JOURNAL   Hum Mutat 28 (6), 638 (2007)
   PUBMED   17437275
  REMARK    GeneRIF: Four novel pathogenic mutations were identified in four
            families; two deletions, one nonsense, and one duplication within
            exon 7 in the ZEB1 gene at 10p11.2. Czech patients were genotyped
            for a founder haplotype and lack of 20p11.2 locus segregation.
REFERENCE   7  (residues 1 to 906)
  AUTHORS   Franklin AJ, Jetton TL, Shelton KD and Magnuson MA.
  TITLE     BZP, a novel serum-responsive zinc finger protein that inhibits
            gene transcription
  JOURNAL   Mol Cell Biol 14 (10), 6773-6788 (1994)
   PUBMED   7935395
REFERENCE   8  (residues 1 to 906)
  AUTHORS   Watanabe Y, Kawakami K, Hirayama Y and Nagano K.
  TITLE     Transcription factors positively and negatively regulating the
            Na,K-ATPase alpha 1 subunit gene
  JOURNAL   J Biochem 114 (6), 849-855 (1993)
   PUBMED   8138542
REFERENCE   9  (residues 1 to 906)
  AUTHORS   Williams TM, Montoya G, Wu Y, Eddy RL, Byers MG and Shows TB.
  TITLE     The TCF8 gene encoding a zinc finger protein (Nil-2-a) resides on
            human chromosome 10p11.2
  JOURNAL   Genomics 14 (1), 194-196 (1992)
   PUBMED   1427828
REFERENCE   10 (residues 1 to 906)
  AUTHORS   Williams TM, Moolten D, Burlein J, Romano J, Bhaerman R, Godillot
            A, Mellon M, Rauscher FJ 3rd and Kant JA.
  TITLE     Identification of a zinc finger protein that inhibits IL-2 gene
            expression
  JOURNAL   Science 254 (5039), 1791-1794 (1991)
   PUBMED   1840704
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK307510.1, AL158080.21 and
            AL161935.10.
            
            Summary: This gene encodes a zinc finger transcription factor. The
            encoded protein likely plays a role in transcriptional repression
            of interleukin 2. Mutations in this gene have been associated with
            posterior polymorphous corneal dystrophy-3 and late-onset Fuchs
            endothelial corneal dystrophy. Alternatively spliced transcript
            variants encoding different isoforms have been described.[provided
            by RefSeq, Mar 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803611.10366.1, SRR1803612.253212.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2148874, SAMEA2155974 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..906
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p11.22"
     Protein         1..906
                     /product="zinc finger E-box-binding homeobox 1 isoform g"
                     /note="zinc finger homeodomain enhancer-binding protein;
                     posterior polymorphous corneal dystrophy 3;
                     delta-crystallin enhancer binding factor 1; transcription
                     factor 8 (represses interleukin 2 expression); negative
                     regulator of IL2"
                     /calculated_mol_wt=99193
     Region          22..44
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          24..44
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          36..59
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          363..411
                     /region_name="homeodomain"
                     /note="Homeodomain; DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; cl00084"
                     /db_xref="CDD:444687"
     Region          688..708
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(693,695,697,699..700,703..704,707,721,723,727..728,
                     731..732,735,749,751,753,755..756,759..760)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          700..725
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          714..736
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          716..736
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          728..753
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:433230"
     Region          744..761
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..906
                     /gene="ZEB1"
                     /gene_synonym="AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3;
                     TCF8; ZFHEP; ZFHX1A"
                     /coded_by="NM_001323651.2:720..3440"
                     /note="isoform g is encoded by transcript variant 18"
                     /db_xref="GeneID:6935"
                     /db_xref="HGNC:HGNC:11642"
                     /db_xref="MIM:189909"
ORIGIN      
        1 mtshksgrdq rhvtqsgcnr kfkctecgka fkykhhlkeh lrihsgekpy ecpnckkrfs
       61 hsgsysshis skkcislipv ngrprtglkt sqcsspslsa spgsptrpqi rqkienkplq
      121 eqlsvnqikt epvdyefkpi vvasgincst plqngvftgg gplqatsspq gmvqavvlpt
      181 vglvspisin lsdiqnvlkv avdgnvirqv lennqanlas keqetinasp iqqgghsvis
      241 aislplvdqd gttkiiinys leqpsqlqvv pqnlkkenpv atnscksekl pedltvksek
      301 dksfeggvnd stcllcddcp gdinalpelk hydlkqptqp pplpaaeaek pessvssatg
      361 dgnlspsqpp lknllsllka yyalnaqpsa eelskiadsv nlpldvvkkw fekmqagqis
      421 vqssepsspe pgkvnipakn ndqpqsanan epqdstvnlq splkmtnspv lpvgsttngs
      481 rsstpspspl nlsssrntqg ylytaegaqe epqvepldls lpkqqgelle rstitsvyqn
      541 svysvqeepl nlscakkepq kdscvtdsep vvnvippsan piniaiptvt aqlptivaia
      601 dqnsvpclra laankqtili pqvaytystt vspavqeppl kviqpngnqd erqdtssegv
      661 snvedqndsd stppkkkmrk tengmyacdl cdkifqksss llrhkyehtg krphecgick
      721 kafkhkhhli ehmrlhsgek pyqcdkcgkr fshsgsysqh mnhrysyckr eaeerdsteq
      781 eeagpeilsn ehvgarasps qgdsderesl treededsek eeeeedkeme elqeekecek
      841 pqgdeeeeee eeeveeeeve eaenegeeak teglmkddra esqasslgqk vgesseqvse
      901 ektnea
//
LOCUS       NP_001278344            1453 aa            linear   PRI 17-APR-2023
DEFINITION  lysine-specific demethylase 6A isoform 1 [Homo sapiens].
ACCESSION   NP_001278344 XP_005272712
VERSION     NP_001278344.1
DBSOURCE    REFSEQ: accession NM_001291415.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1453)
  AUTHORS   Chen LJ, Xu XY, Zhong XD, Liu YJ, Zhu MH, Tao F, Li CY, She QS,
            Yang GJ and Chen J.
  TITLE     The role of lysine-specific demethylase 6A (KDM6A) in tumorigenesis
            and its therapeutic potentials in cancer therapy
  JOURNAL   Bioorg Chem 133, 106409 (2023)
   PUBMED   36753963
  REMARK    GeneRIF: The role of lysine-specific demethylase 6A (KDM6A) in
            tumorigenesis and its therapeutic potentials in cancer therapy.
            Review article
REFERENCE   2  (residues 1 to 1453)
  AUTHORS   Boila LD, Ghosh S, Bandyopadhyay SK, Jin L, Murison A, Zeng AGX,
            Shaikh W, Bhowmik S, Muddineni SSNA, Biswas M, Sinha S, Chatterjee
            SS, Mbong N, Gan OI, Bose A, Chakraborty S, Arruda A, Kennedy JA,
            Mitchell A, Lechman ER, Banerjee D, Milyavsky M, Minden MD, Dick JE
            and Sengupta A.
  TITLE     KDM6 demethylases integrate DNA repair gene regulation and loss of
            KDM6A sensitizes human acute myeloid leukemia to PARP and BCL2
            inhibition
  JOURNAL   Leukemia 37 (4), 751-764 (2023)
   PUBMED   36720973
  REMARK    GeneRIF: KDM6 demethylases integrate DNA repair gene regulation and
            loss of KDM6A sensitizes human acute myeloid leukemia to PARP and
            BCL2 inhibition.
REFERENCE   3  (residues 1 to 1453)
  AUTHORS   Ozden-Yilmaz G, Savas B, Bursali A, Eray A, Aribas A, Senturk S,
            Karaca E, Karakulah G and Erkek-Ozhan S.
  TITLE     Differential Occupancy and Regulatory Interactions of KDM6A in
            Bladder Cell Lines
  JOURNAL   Cells 12 (6), 836 (2023)
   PUBMED   36980177
  REMARK    GeneRIF: Differential Occupancy and Regulatory Interactions of
            KDM6A in Bladder Cell Lines.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1453)
  AUTHORS   Lee MG, Villa R, Trojer P, Norman J, Yan KP, Reinberg D, Di Croce L
            and Shiekhattar R.
  TITLE     Demethylation of H3K27 regulates polycomb recruitment and H2A
            ubiquitination
  JOURNAL   Science 318 (5849), 447-450 (2007)
   PUBMED   17761849
  REMARK    GeneRIF: study shows that UTX is a di- and trimethyl H3K27
            demethylase; results suggest a concerted mechanism for
            transcriptional activation in which cycles of H3K4 methylation by
            MLL2/3 are linked with the demethylation of H3K27 through UTX
REFERENCE   5  (residues 1 to 1453)
  AUTHORS   Foresta C, Ferlin A and Moro E.
  TITLE     Deletion and expression analysis of AZFa genes on the human Y
            chromosome revealed a major role for DBY in male infertility
  JOURNAL   Hum Mol Genet 9 (8), 1161-1169 (2000)
   PUBMED   10767340
REFERENCE   6  (residues 1 to 1453)
  AUTHORS   Grbavec D, Lo R, Liu Y, Greenfield A and Stifani S.
  TITLE     Groucho/transducin-like enhancer of split (TLE) family members
            interact with the yeast transcriptional co-repressor SSN6 and
            mammalian SSN6-related proteins: implications for evolutionary
            conservation of transcription repression mechanisms
  JOURNAL   Biochem J 337 (Pt 1) (Pt 1), 13-17 (1999)
   PUBMED   9854018
REFERENCE   7  (residues 1 to 1453)
  AUTHORS   Greenfield A, Carrel L, Pennisi D, Philippe C, Quaderi N, Siggers
            P, Steiner K, Tam PP, Monaco AP, Willard HF and Koopman P.
  TITLE     The UTX gene escapes X inactivation in mice and humans
  JOURNAL   Hum Mol Genet 7 (4), 737-742 (1998)
   PUBMED   9499428
REFERENCE   8  (residues 1 to 1453)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Functional coherence of the human Y chromosome
  JOURNAL   Science 278 (5338), 675-680 (1997)
   PUBMED   9381176
REFERENCE   9  (residues 1 to 1453)
  AUTHORS   Adam,M.P., Hudgins,L. and Hannibal,M.
  TITLE     Kabuki Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21882399
REFERENCE   10 (residues 1 to 1453)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133545.10, AL138744.41 and
            AC136488.3.
            On Apr 12, 2014 this sequence version replaced XP_005272712.1.
            
            Summary: This gene is located on the X chromosome and is the
            corresponding locus to a Y-linked gene which encodes a
            tetratricopeptide repeat (TPR) protein. The encoded protein of this
            gene contains a JmjC-domain and catalyzes the demethylation of
            tri/dimethylated histone H3. Multiple alternatively spliced
            transcript variants have been found for this gene. [provided by
            RefSeq, Apr 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC143277.1, SRR11853567.31827.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000611820.5/ ENSP00000483595.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1453
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.3"
     Protein         1..1453
                     /product="lysine-specific demethylase 6A isoform 1"
                     /EC_number="1.14.11.68"
                     /note="ubiquitously-transcribed TPR gene on the X
                     chromosome; ubiquitously transcribed tetratricopeptide
                     repeat protein X-linked; lysine (K)-specific demethylase
                     6A; bA386N14.2 (ubiquitously transcribed X chromosome
                     tetratricopeptide repeat protein (UTX)); histone
                     demethylase UTX; [histone H3]-trimethyl-L-lysine(27)
                     demethylase 6A"
                     /calculated_mol_wt=159658
     Region          93..121
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(94,97..98,101..102,104,131,134..135,138..139,
                     141..142,165,171..172,175..176,179)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          106..399
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:223533"
     Region          129..159
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          164..194
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          205..233
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          243..278
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(285,288..289,292..293,295,319,322..323,326..327,
                     329..330,353,356..357,360..361,364)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          285..312
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          317..347
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          352..378
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          1151..1215
                     /region_name="JmjC"
                     /note="A domain family that is part of the cupin
                     metalloenzyme superfamily; smart00558"
                     /db_xref="CDD:214721"
     Region          1185..1293
                     /region_name="JmjC"
                     /note="JmjC domain, hydroxylase; pfam02373"
                     /db_xref="CDD:396791"
     CDS             1..1453
                     /gene="KDM6A"
                     /gene_synonym="bA386N14.2; KABUK2; UTX"
                     /coded_by="NM_001291415.2:365..4726"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS94599.1"
                     /db_xref="GeneID:7403"
                     /db_xref="HGNC:HGNC:12637"
                     /db_xref="MIM:300128"
ORIGIN      
        1 mkscgvslat aaaaaaafgd eekkmaagka sgeseeasps ltaeerealg gldsrlfgfv
       61 rfhedgartk allgkavrcy eslilkaegk vesdffcqlg hfnllledyp kalsayqryy
      121 slqsdywkna aflyglglvy fhynafqwai kafqevlyvd psfcrakeih lrlglmfkvn
      181 tdyesslkhf qlalvdcnpc tlsnaeiqfh iahlyetqrk yhsakeayeq llqtenlsaq
      241 vkatvlqqlg wmhhtvdllg dkatkesyai qylqkslead pnsgqswyfl grcyssigkv
      301 qdafisyrqs idkseasadt wcsigvlyqq qnqpmdalqa yicavqldhg haaawmdlgt
      361 lyescnqpqd aikcylnatr skscsntsal aarikylqaq lcnlpqgslq nktkllpsie
      421 eawslpipae ltsrqgamnt aqqackphhp ntepvlglsq tpisqqslpl hmipssqvdd
      481 lsspakrkrt ssptkntsdn wsgghavshp pvqqqahswc ltpqklqhle qlranrnnln
      541 paqklmleql esqfvlmqqh qmrptgvaqv rstgipngpt adsslptnsv sgqqpqlalt
      601 rvpsvsqpgv rpacpgqpla ngpfsaghvp cstsrtlgst dtilignnhi tgsgsngnvp
      661 ylqrnaltlp hnrtnltssa eepwknqlsn stqglhkgqs shsagpnger plsstgpsqh
      721 lqaagsgiqn qnghptlpsn svtqgaalnh lsshtatsgg qqgitltkes kpsgniltvp
      781 etsrhtgetp nstasveglp nhvhqmtada vcspshgdsk spgllssdnp qlsallmgka
      841 nnnvgtgtcd kvnnihpavh tktdnsvass pssaistatp spksteqttt nsvtslnsph
      901 sglhtingeg meesqspmkt dlllvnhkps pqiipsmsvs iypssaevlk acrnlgkngl
      961 snssilldkc ppprppsspy pplpkdklnp ptpsiylenk rdaffpplhq fctnpnnpvt
     1021 virglagalk ldlglfstkt lveannehmv evrtqllqpa denwdptgtk kiwhcesnrs
     1081 httiakyaqy qassfqeslr eenekrshhk dhsdsestss dnsgrrrkgp fktikfgtni
     1141 dlsddkkwkl qlheltklpa fvrvvsagnl lshvghtilg mntvqlymkv pgsrtpghqe
     1201 nnnfcsvnin igpgdcewfv vpegywgvln dfceknnlnf lmgswwpnle dlyeanvpvy
     1261 rfiqrpgdlv winagtvhwv qaigwcnnia wnvgpltacq yklaveryew nklqsvksiv
     1321 pmvhlswnma rnikvsdpkl femikycllr tlkqcqtlre aliaagkeii whgrtkeepa
     1381 hycsicevev fdllfvtnes nsrktyivhc qdcarktsgn lenfvvleqy kmedlmqvyd
     1441 qftlapplps ass
//
LOCUS       NP_644671                712 aa            linear   PRI 17-APR-2023
DEFINITION  signal transducer and activator of transcription 1-alpha/beta
            isoform beta [Homo sapiens].
ACCESSION   NP_644671
VERSION     NP_644671.1
DBSOURCE    REFSEQ: accession NM_139266.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 712)
  AUTHORS   Staels F, Roosens W, Giovannozzi S, Moens L, Bogaert J,
            Iglesias-Herrero C, Gijsbers R, Bossuyt X, Frans G, Liston A,
            Humblet-Baron S, Meyts I, Van Aelst L and Schrijvers R.
  TITLE     Case report: Myocarditis in congenital STAT1 gain-of function
  JOURNAL   Front Immunol 14, 1095595 (2023)
   PUBMED   37020552
  REMARK    GeneRIF: Case report: Myocarditis in congenital STAT1 gain-of
            function.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 712)
  AUTHORS   Wang Y, Song Q, Huang W, Lin Y, Wang X, Wang C, Willard B, Zhao C,
            Nan J, Holvey-Bates E, Wang Z, Taylor D, Yang J and Stark GR.
  TITLE     A virus-induced conformational switch of STAT1-STAT2 dimers boosts
            antiviral defenses
  JOURNAL   Cell Res 31 (2), 206-218 (2021)
   PUBMED   32759968
REFERENCE   3  (residues 1 to 712)
  AUTHORS   Decker T and Kovarik P.
  TITLE     Serine phosphorylation of STATs
  JOURNAL   Oncogene 19 (21), 2628-2637 (2000)
   PUBMED   10851062
  REMARK    Review article
REFERENCE   4  (residues 1 to 712)
  AUTHORS   Bowman T, Garcia R, Turkson J and Jove R.
  TITLE     STATs in oncogenesis
  JOURNAL   Oncogene 19 (21), 2474-2488 (2000)
   PUBMED   10851046
  REMARK    Review article
REFERENCE   5  (residues 1 to 712)
  AUTHORS   Haddad B, Pabon-Pena CR, Young H and Sun WH.
  TITLE     Assignment1 of STAT1 to human chromosome 2q32 by FISH and radiation
            hybrids
  JOURNAL   Cytogenet Cell Genet 83 (1-2), 58-59 (1998)
   PUBMED   9925928
REFERENCE   6  (residues 1 to 712)
  AUTHORS   Yan R, Qureshi S, Zhong Z, Wen Z and Darnell JE Jr.
  TITLE     The genomic structure of the STAT genes: multiple exons in
            coincident sites in Stat1 and Stat2
  JOURNAL   Nucleic Acids Res 23 (3), 459-463 (1995)
   PUBMED   7885841
REFERENCE   7  (residues 1 to 712)
  AUTHORS   Igarashi K, Garotta G, Ozmen L, Ziemiecki A, Wilks AF, Harpur AG,
            Larner AC and Finbloom DS.
  TITLE     Interferon-gamma induces tyrosine phosphorylation of
            interferon-gamma receptor and regulated association of protein
            tyrosine kinases, Jak1 and Jak2, with its receptor
  JOURNAL   J Biol Chem 269 (20), 14333-14336 (1994)
   PUBMED   7514165
REFERENCE   8  (residues 1 to 712)
  AUTHORS   Shuai K, Horvath CM, Huang LH, Qureshi SA, Cowburn D and Darnell JE
            Jr.
  TITLE     Interferon activation of the transcription factor Stat91 involves
            dimerization through SH2-phosphotyrosyl peptide interactions
  JOURNAL   Cell 76 (5), 821-828 (1994)
   PUBMED   7510216
REFERENCE   9  (residues 1 to 712)
  AUTHORS   Schindler C, Fu XY, Improta T, Aebersold R and Darnell JE Jr.
  TITLE     Proteins of transcription factor ISGF-3: one gene encodes the
            91-and 84-kDa ISGF-3 proteins that are activated by interferon
            alpha
  JOURNAL   Proc Natl Acad Sci U S A 89 (16), 7836-7839 (1992)
   PUBMED   1502203
REFERENCE   10 (residues 1 to 712)
  AUTHORS   Schindler C, Shuai K, Prezioso VR and Darnell JE Jr.
  TITLE     Interferon-dependent tyrosine phosphorylation of a latent
            cytoplasmic transcription factor
  JOURNAL   Science 257 (5071), 809-813 (1992)
   PUBMED   1496401
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CR998778.1, CR749636.1 and
            BX400908.2.
            
            Summary: The protein encoded by this gene is a member of the STAT
            protein family. In response to cytokines and growth factors, STAT
            family members are phosphorylated by the receptor associated
            kinases, and then form homo- or heterodimers that translocate to
            the cell nucleus where they act as transcription activators. The
            protein encoded by this gene can be activated by various ligands
            including interferon-alpha, interferon-gamma, EGF, PDGF and IL6.
            This protein mediates the expression of a variety of genes, which
            is thought to be important for cell viability in response to
            different cell stimuli and pathogens. The protein plays an
            important role in immune responses to viral, fungal and
            mycobacterial pathogens. Mutations in this gene are associated with
            Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020].
            
            Transcript Variant: This variant (beta) is different in its 3'
            coding region and UTR compared to variant alpha. It encodes a
            protein (isoform beta) with a shorter C-terminus, when compared to
            isoform alpha.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC002704.2, SRR14038197.1262278.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in immune response or antiviral
                                   activity
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..712
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     Protein         1..712
                     /product="signal transducer and activator of transcription
                     1-alpha/beta isoform beta"
                     /note="transcription factor ISGF-3 components p91/p84;
                     signal transducer and activator of transcription
                     1-alpha/beta; signal transducer and activator of
                     transcription 1, 91kD; signal transducer and activator of
                     transcription 1, 91kDa"
                     /calculated_mol_wt=82912
     Region          2..121
                     /region_name="STAT_int"
                     /note="STAT protein, protein interaction domain;
                     smart00964"
                     /db_xref="CDD:214942"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Site            114
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:28753426; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Region          138..313
                     /region_name="STAT1_CCD"
                     /note="Coiled-coil domain of Signal Transducer and
                     Activator of Transcription 1 (STAT1); cd16851"
                     /db_xref="CDD:341076"
     Site            order(164..165,168..169,172,175..176,179,232,236,239..241,
                     243..244,256..257,259..260,263..264,267,271,274,306,
                     309..311)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:341076"
     Site            175
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:28753426; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Site            order(239..241,243..244,256..257,260,263..264,267,271,274,
                     302,306,309..310)
                     /site_type="other"
                     /note="CCD-DBD interface [polypeptide binding]"
                     /db_xref="CDD:341076"
     Site            296
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:28753426; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Region          317..477
                     /region_name="STAT1_DBD"
                     /note="DNA-binding domain of Signal Transducer and
                     Activator of Transcription 1 (STAT1); cd16845"
                     /db_xref="CDD:341083"
     Site            order(336,340,378,411,413,426..427,459..460,463)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:341083"
     Site            366
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:28753426; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Site            525
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:28753426; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Region          557..707
                     /region_name="SH2_STAT1"
                     /note="Src homology 2 (SH2) domain found in signal
                     transducer and activator of transcription (STAT) 1
                     proteins; cd10372"
                     /db_xref="CDD:198235"
     Site            order(584,602,630,632)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198235"
     Site            order(631,647)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198235"
     Site            637
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:28753426; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Site            order(641..642,706)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:198235"
     Site            665
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:28753426; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Site            701
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by JAK1, JAK2 or TYK2.
                     /evidence=ECO:0000269|PubMed:17561467,
                     ECO:0000269|PubMed:19088846, ECO:0000269|PubMed:21135090,
                     ECO:0000269|PubMed:22065572, ECO:0000269|PubMed:26479788,
                     ECO:0000269|PubMed:27796300, ECO:0000269|PubMed:28753426,
                     ECO:0000269|PubMed:7657660; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     Site            708
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by IKKE.
                     /evidence=ECO:0000269|PubMed:22065572; propagated from
                     UniProtKB/Swiss-Prot (P42224.2)"
     CDS             1..712
                     /gene="STAT1"
                     /gene_synonym="CANDF7; IMD31A; IMD31B; IMD31C; ISGF-3;
                     STAT91"
                     /coded_by="NM_139266.3:310..2448"
                     /note="isoform beta is encoded by transcript variant beta"
                     /db_xref="CCDS:CCDS42793.1"
                     /db_xref="GeneID:6772"
                     /db_xref="HGNC:HGNC:11362"
                     /db_xref="MIM:600555"
ORIGIN      
        1 msqwyelqql dskfleqvhq lyddsfpmei rqylaqwlek qdwehaandv sfatirfhdl
       61 lsqlddqysr fslennfllq hnirkskrnl qdnfqedpiq msmiiysclk eerkilenaq
      121 rfnqaqsgni qstvmldkqk eldskvrnvk dkvmciehei ksledlqdey dfkcktlqnr
      181 ehetngvaks dqkqeqlllk kmylmldnkr kevvhkiiel lnvteltqna lindelvewk
      241 rrqqsacigg ppnacldqlq nwftivaesl qqvrqqlkkl eeleqkytye hdpitknkqv
      301 lwdrtfslfq qliqssfvve rqpcmpthpq rplvlktgvq ftvklrllvk lqelnynlkv
      361 kvlfdkdvne rntvkgfrkf nilgthtkvm nmeestngsl aaefrhlqlk eqknagtrtn
      421 egplivteel hslsfetqlc qpglvidlet tslpvvvisn vsqlpsgwas ilwynmlvae
      481 prnlsffltp pcarwaqlse vlswqfssvt krglnvdqln mlgekllgpn aspdglipwt
      541 rfckenindk nfpfwlwies ilelikkhll plwndgcimg fiskereral lkdqqpgtfl
      601 lrfsessreg aitftwvers qnggepdfha vepytkkels avtfpdiirn ykvmaaenip
      661 enplkylypn idkdhafgky ysrpkeapep meldgpkgtg yiktelisvs ev
//
LOCUS       NP_036245                337 aa            linear   PRI 17-APR-2022
DEFINITION  carbonic anhydrase 14 precursor [Homo sapiens].
ACCESSION   NP_036245
VERSION     NP_036245.1
DBSOURCE    REFSEQ: accession NM_012113.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 337)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   2  (residues 1 to 337)
  AUTHORS   Alterio V, Pan P, Parkkila S, Buonanno M, Supuran CT, Monti SM and
            De Simone G.
  TITLE     The structural comparison between membrane-associated human
            carbonic anhydrases provides insights into drug design of selective
            inhibitors
  JOURNAL   Biopolymers 101 (7), 769-778 (2014)
   PUBMED   24374484
  REMARK    GeneRIF: Data indicate that carbonic anhydrase isoform XIV (hCA
            XIV) shows high sequence identity with the other
            membrane-associated carbonic anhydrases (hCAs).
REFERENCE   3  (residues 1 to 337)
  AUTHORS   Gitto R, Agnello S, Ferro S, De Luca L, Vullo D, Brynda J, Mader P,
            Supuran CT and Chimirri A.
  TITLE     Identification of 3,4-Dihydroisoquinoline-2(1H)-sulfonamides as
            potent carbonic anhydrase inhibitors: synthesis, biological
            evaluation, and enzyme--ligand X-ray studies
  JOURNAL   J. Med. Chem. 53 (6), 2401-2408 (2010)
   PUBMED   20170095
  REMARK    GeneRIF: Results indicate that some derivatives showed potent hCA
            IX and hCA XIV inhibitory effects at nanomolar concentrations as
            well as low affinity for the ubiquitous hCA II.
REFERENCE   4  (residues 1 to 337)
  AUTHORS   Katzir Z, Dinour D, Reznik-Wolf H, Nissenkorn A and Holtzman E.
  TITLE     Familial pure proximal renal tubular acidosis--a clinical and
            genetic study
  JOURNAL   Nephrol. Dial. Transplant. 23 (4), 1211-1215 (2008)
   PUBMED   17881426
  REMARK    GeneRIF: No mutation was found in the coding regions and
            intron-exon boundaries of the genes for CA II, CA IV, CA XIV,
            kNCB1, NHE3, NHE8, NHRF1, NHRF2 and SLC26A6 amplified from genomic
            DNA of family members with pRTA.
REFERENCE   5  (residues 1 to 337)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res. 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   6  (residues 1 to 337)
  AUTHORS   Tarun AS, Bryant B, Zhai W, Solomon C and Shusterman D.
  TITLE     Gene expression for carbonic anhydrase isoenzymes in human nasal
            mucosa
  JOURNAL   Chem. Senses 28 (7), 621-629 (2003)
   PUBMED   14578124
REFERENCE   7  (residues 1 to 337)
  AUTHORS   Juel C, Lundby C, Sander M, Calbet JA and Hall Gv.
  TITLE     Human skeletal muscle and erythrocyte proteins involved in
            acid-base homeostasis: adaptations to chronic hypoxia
  JOURNAL   J. Physiol. (Lond.) 548 (Pt 2), 639-648 (2003)
   PUBMED   12611920
REFERENCE   8  (residues 1 to 337)
  AUTHORS   Kaunisto K, Parkkila S, Rajaniemi H, Waheed A, Grubb J and Sly WS.
  TITLE     Carbonic anhydrase XIV: luminal expression suggests key role in
            renal acidification
  JOURNAL   Kidney Int. 61 (6), 2111-2118 (2002)
   PUBMED   12028451
REFERENCE   9  (residues 1 to 337)
  AUTHORS   Parkkila S, Parkkila AK, Rajaniemi H, Shah GN, Grubb JH, Waheed A
            and Sly WS.
  TITLE     Expression of membrane-associated carbonic anhydrase XIV on neurons
            and axons in mouse and human brain
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 98 (4), 1918-1923 (2001)
   PUBMED   11172051
REFERENCE   10 (residues 1 to 337)
  AUTHORS   Fujikawa-Adachi K, Nishimori I, Taguchi T and Onishi S.
  TITLE     Human carbonic anhydrase XIV (CA14): cDNA cloning, mRNA expression,
            and mapping to chromosome 1
  JOURNAL   Genomics 61 (1), 74-81 (1999)
   PUBMED   10512682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP361793.1, AK315469.1 and
            AB025904.1.
            
            Summary:  Carbonic anhydrases (CAs) are a large family of zinc
            metalloenzymes that catalyze the reversible hydration of carbon
            dioxide.  They participate in a variety of biological processes,
            including respiration, calcification, acid-base balance, bone
            resorption, and the formation of aqueous humor, cerebrospinal
            fluid, saliva, and gastric acid.  They show extensive diversity in
            tissue distribution and in their subcellular localization.  CA XIV
            is predicted to be a type I membrane protein and shares highest
            sequence similarity with the other transmembrane CA isoform, CA
            XII; however, they have different patterns of tissue-specific
            expression and thus may play different physiologic roles. [provided
            by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074765.1, SRR1803614.78771.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369111.9/ ENSP00000358107.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..337
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     Protein         1..337
                     /product="carbonic anhydrase 14 precursor"
                     /EC_number="4.2.1.1"
                     /note="CA-XIV; carbonic anhydrase XIV; carbonic
                     dehydratase; carbonate dehydratase XIV"
                     /calculated_mol_wt=35710
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=1975
     Region          29..278
                     /region_name="alpha_CA_XII_XIV"
                     /note="Carbonic anhydrase alpha, isozymes XII and XIV.
                     Carbonic anhydrases (CAs) are zinc-containing enzymes that
                     catalyze the reversible hydration of carbon dioxide in a
                     two-step mechanism: a nucleophilic attack of a zinc-bound
                     hydroxide ion on carbon dioxide; cd03126"
                     /db_xref="CDD:239400"
     Site            order(84,107,109,111,122,135,217)
                     /site_type="active"
                     /db_xref="CDD:239400"
     Site            order(109,111,135)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:239400"
     CDS             1..337
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /coded_by="NM_012113.3:356..1369"
                     /db_xref="CCDS:CCDS947.1"
                     /db_xref="GeneID:23632"
                     /db_xref="HGNC:HGNC:1372"
                     /db_xref="MIM:604832"
ORIGIN      
        1 mlfsalllev iwilaadggq hwtyegphgq dhwpasypec gnnaqspidi qtdsvtfdpd
       61 lpalqphgyd qpgtepldlh nnghtvqlsl pstlylgglp rkyvaaqlhl hwgqkgspgg
      121 sehqinseat faelhivhyd sdsydslsea aerpqglavl gilievgetk niayehilsh
      181 lhevrhkdqk tsvppfnlre llpkqlgqyf ryngslttpp cyqsvlwtvf yrrsqismeq
      241 leklqgtlfs teeepskllv qnyralqpln qrmvfasfiq agssyttgem lslgvgilvg
      301 clclllavyf iarkirkkrl enrksvvfts aqattea
//
LOCUS       NP_872585                539 aa            linear   PRI 18-DEC-2022
DEFINITION  ephrin type-A receptor 3 isoform b precursor [Homo sapiens].
ACCESSION   NP_872585
VERSION     NP_872585.1
DBSOURCE    REFSEQ: accession NM_182644.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 539)
  AUTHORS   Salokas K, Liu X, Ohman T, Chowdhury I, Gawriyski L, Keskitalo S
            and Varjosalo M.
  TITLE     Physical and functional interactome atlas of human receptor
            tyrosine kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   2  (residues 1 to 539)
  AUTHORS   Kim SH, Kang BC, Seong D, Lee WH, An JH, Je HU, Cha HJ, Chang HW,
            Kim SY, Kim SW and Han MW.
  TITLE     EPHA3 Contributes to Epigenetic Suppression of PTEN in
            Radioresistant Head and Neck Cancer
  JOURNAL   Biomolecules 11 (4), 599 (2021)
   PUBMED   33919657
  REMARK    GeneRIF: EPHA3 Contributes to Epigenetic Suppression of PTEN in
            Radioresistant Head and Neck Cancer.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 539)
  AUTHORS   Wang L, Tang S, Yu Y, Lv Y, Wang A, Yan X, Li N, Sha C, Sun K and
            Li Y.
  TITLE     Intranasal Delivery of Temozolomide-Conjugated Gold Nanoparticles
            Functionalized with Anti-EphA3 for Glioblastoma Targeting
  JOURNAL   Mol Pharm 18 (3), 915-927 (2021)
   PUBMED   33417456
  REMARK    GeneRIF: Intranasal Delivery of Temozolomide-Conjugated Gold
            Nanoparticles Functionalized with Anti-EphA3 for Glioblastoma
            Targeting.
REFERENCE   4  (residues 1 to 539)
  AUTHORS   London M and Gallo E.
  TITLE     Critical role of EphA3 in cancer and current state of EphA3 drug
            therapeutics
  JOURNAL   Mol Biol Rep 47 (7), 5523-5533 (2020)
   PUBMED   32621117
  REMARK    GeneRIF: Critical role of EphA3 in cancer and current state of
            EphA3 drug therapeutics.
            Review article
REFERENCE   5  (residues 1 to 539)
  AUTHORS   Song Z, Gao S, Liu YM, Wang Y, Sun ZX, Bao D and Liu C.
  TITLE     EphA3 promotes the proliferation of NPC cells through negatively
            regulating the ability of FOG2
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (12), 6735-6743 (2020)
   PUBMED   32633364
  REMARK    GeneRIF: EphA3 promotes the proliferation of NPC cells through
            negatively regulating the ability of FOG2.
REFERENCE   6  (residues 1 to 539)
  AUTHORS   Cerretti DP, Vanden Bos T, Nelson N, Kozlosky CJ, Reddy P,
            Maraskovsky E, Park LS, Lyman SD, Copeland NG, Gilbert DJ et al.
  TITLE     Isolation of LERK-5: a ligand of the eph-related receptor tyrosine
            kinases
  JOURNAL   Mol Immunol 32 (16), 1197-1205 (1995)
   PUBMED   8559144
REFERENCE   7  (residues 1 to 539)
  AUTHORS   Beckmann MP, Cerretti DP, Baum P, Vanden Bos T, James L, Farrah T,
            Kozlosky C, Hollingsworth T, Shilling H, Maraskovsky E et al.
  TITLE     Molecular characterization of a family of ligands for eph-related
            tyrosine kinase receptors
  JOURNAL   EMBO J 13 (16), 3757-3762 (1994)
   PUBMED   8070404
REFERENCE   8  (residues 1 to 539)
  AUTHORS   Wicks IP, Lapsys NM, Baker E, Campbell LJ, Boyd AW and Sutherland
            GR.
  TITLE     Localization of a human receptor tyrosine kinase (ETK1) to
            chromosome region 3p11.2
  JOURNAL   Genomics 19 (1), 38-41 (1994)
   PUBMED   8188238
REFERENCE   9  (residues 1 to 539)
  AUTHORS   Wicks IP, Wilkinson D, Salvaris E and Boyd AW.
  TITLE     Molecular cloning of HEK, the gene encoding a receptor tyrosine
            kinase expressed by human lymphoid tumor cell lines
  JOURNAL   Proc Natl Acad Sci U S A 89 (5), 1611-1615 (1992)
   PUBMED   1311845
REFERENCE   10 (residues 1 to 539)
  AUTHORS   Boyd AW, Ward LD, Wicks IP, Simpson RJ, Salvaris E, Wilks A, Welch
            K, Loudovaris M, Rockman S and Busmanis I.
  TITLE     Isolation and characterization of a novel receptor-type protein
            tyrosine kinase (hek) from a human pre-B cell line
  JOURNAL   J Biol Chem 267 (5), 3262-3267 (1992)
   PUBMED   1737782
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF213459.1 and AC109129.3.
            
            Summary: This gene belongs to the ephrin receptor subfamily of the
            protein-tyrosine kinase family. EPH and EPH-related receptors have
            been implicated in mediating developmental events, particularly in
            the nervous system. Receptors in the EPH subfamily typically have a
            single kinase domain and an extracellular region containing a
            Cys-rich domain and 2 fibronectin type III repeats. The ephrin
            receptors are divided into 2 groups based on the similarity of
            their extracellular domain sequences and their affinities for
            binding ephrin-A and ephrin-B ligands. This gene encodes a protein
            that binds ephrin-A ligands. Two alternatively spliced transcript
            variants have been described for this gene. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' coding region, compared to variant 1, that results in
            missing several 3' exons. It encodes isoform b which has a shorter
            and distinct C-terminus compared to isoform a. This isoform lacks a
            transmembrane domain and may be a secreted form of the Epha3
            receptor.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF213460.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..539
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p11.1"
     Protein         1..539
                     /product="ephrin type-A receptor 3 isoform b precursor"
                     /EC_number="2.7.10.1"
                     /note="TYRO4 protein tyrosine kinase; eph-like tyrosine
                     kinase 1; testicular tissue protein Li 64; human embryo
                     kinase 1; ephrin type-A receptor 3; EPH-like kinase 4;
                     tyrosine-protein kinase receptor ETK1"
                     /calculated_mol_wt=58807
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2158
     Region          29..201
                     /region_name="EphR_LBD_A3"
                     /note="Ligand Binding Domain of Ephrin type-A Receptor 3;
                     cd10481"
                     /db_xref="CDD:198449"
     Site            order(53,55..59,66..67,69,71,102,104,109..110,152,
                     156..157,160..162,189..191,193)
                     /site_type="other"
                     /note="ephrin binding site [polypeptide binding]"
                     /db_xref="CDD:198449"
     Site            232
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P29320.2)"
     Region          269..303
                     /region_name="Ephrin_rec_like"
                     /note="Putative ephrin-receptor like; pfam07699"
                     /db_xref="CDD:429604"
     Site            order(326,401,414)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          327..417
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            337
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P29320.2)"
     Site            391
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P29320.2)"
     Site            404
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P29320.2)"
     Site            order(415..416,418..419)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          437..528
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(437,501,516)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            493
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P29320.2)"
     Site            order(517..518,520..521)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     CDS             1..539
                     /gene="EPHA3"
                     /gene_synonym="EK4; ETK; ETK1; HEK; HEK4; TYRO4"
                     /coded_by="NM_182644.3:129..1748"
                     /note="isoform b precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS46875.1"
                     /db_xref="GeneID:2042"
                     /db_xref="HGNC:HGNC:3387"
                     /db_xref="MIM:179611"
ORIGIN      
        1 mdcqlsilll lscsvldsfg elipqpsnev nlldsktiqg elgwisypsh gweeisgvde
       61 hytpirtyqv cnvmdhsqnn wlrtnwvprn saqkiyvelk ftlrdcnsip lvlgtcketf
      121 nlyymesddd hgvkfrehqf tkidtiaade sftqmdlgdr ilklnteire vgpvnkkgfy
      181 lafqdvgacv alvsvrvyfk kcpftvknla mfpdtvpmds qslvevrgsc vnnskeedpp
      241 rmycstegew lvpigkcscn agyeergfmc qacrpgfyka ldgnmkcakc pphsstqedg
      301 smncrcenny fradkdppsm actrppsspr nvisninets vildwswpld tggrkdvtfn
      361 iickkcgwni kqcepcspnv rflprqfglt nttvtvtdll ahtnytfeid avngvselss
      421 pprqfaavsi ttnqaapspv ltikkdrtsr nsislswqep ehpngiildy evkyyekqeq
      481 etsytilrar gtnvtisslk pdtiyvfqir artaagygtn srkfefetsp dcmyyfnav
//
LOCUS       NP_001002918             311 aa            linear   PRI 22-DEC-2022
DEFINITION  olfactory receptor 8D2 [Homo sapiens].
ACCESSION   NP_001002918 XP_208541
VERSION     NP_001002918.1
DBSOURCE    REFSEQ: accession NM_001002918.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 311)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A,
            Nativ N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 311)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 311)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   4  (residues 1 to 311)
  AUTHORS   Gaudin JC, Breuils L and Haertle T.
  TITLE     New GPCRs from a human lingual cDNA library
  JOURNAL   Chem Senses 26 (9), 1157-1166 (2001)
   PUBMED   11705801
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF162668.1.
            On Aug 30, 2004 this sequence version replaced XP_208541.2.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
            
            ##Evidence-Data-START##
            Transcript is intronless :: AF162668.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000624618.2/ ENSP00000485661.1
            polymorphic pseudogene :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..311
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     Protein         1..311
                     /product="olfactory receptor 8D2"
                     /note="olfactory receptor-like protein JCG2; olfactory
                     receptor OR11-303"
                     /calculated_mol_wt=34726
     Site            5
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9GZM6.1)"
     Region          16..305
                     /region_name="7tmA_OR8D-like"
                     /note="olfactory receptor subfamily 8D and related
                     proteins, member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15406"
                     /db_xref="CDD:320528"
     Region          26..52
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320528"
     Site            26..46
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZM6.1)"
     Site            55..75
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZM6.1)"
     Region          59..85
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320528"
     Site            order(81,84..85,97..102,104..105,108,153,155..159,195,
                     198..200,202..204,206..207,252,255..256,258..259,262,
                     268..269,271..273,276,279..280)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320528"
     Region          97..127
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320528"
     Site            100..120
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZM6.1)"
     Region          140..161
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320528"
     Site            140..160
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZM6.1)"
     Region          195..225
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320528"
     Site            198..217
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZM6.1)"
     Region          232..262
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320528"
     Site            238..258
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZM6.1)"
     Region          269..294
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320528"
     Site            272..292
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZM6.1)"
     CDS             1..311
                     /gene="OR8D2"
                     /gene_synonym="JCG2"
                     /coded_by="NM_001002918.1:1..936"
                     /db_xref="GeneID:283160"
                     /db_xref="HGNC:HGNC:8482"
ORIGIN      
        1 matsnhssga efilagltqr pelqlplfll flgiyvvtvv gnlgmiflia lssqlyppvy
       61 yflshlsfid lcyssvitpk mlvnfvpeen iisflecitq lyfflifvia egylltamey
      121 dryvaicrpl lynivmshrv csimmavvys lgflwatvht trmsvlsfcr shtvshyfcd
      181 ilplltlscs sthineillf iiggvntlat tlavlisyaf ifssilgihs tegqskafgt
      241 csshllavgi ffgsitfmyf kppssttmek ekvssvfyit iipmlnpliy slrnkdvkna
      301 lkkmtrgrqs s
//
LOCUS       NP_056179                160 aa            linear   PRI 25-DEC-2022
DEFINITION  lymphocyte antigen 96 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_056179
VERSION     NP_056179.4
DBSOURCE    REFSEQ: accession NM_015364.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 160)
  AUTHORS   Feldtmann R, Kummel A, Chamling B, Strohbach A, Lehnert K, Gross S,
            Loerzer L, Riad A, Lindner D, Westermann D, Fielitz J, Dorr M and
            Felix SB.
  TITLE     Myeloid differentiation factor-2 activates monocytes in patients
            with dilated cardiomyopathy
  JOURNAL   Immunology 167 (1), 40-53 (2022)
   PUBMED   35502635
  REMARK    GeneRIF: Myeloid differentiation factor-2 activates monocytes in
            patients with dilated cardiomyopathy.
REFERENCE   2  (residues 1 to 160)
  AUTHORS   Asami J and Shimizu T.
  TITLE     Structural and functional understanding of the toll-like receptors
  JOURNAL   Protein Sci 30 (4), 761-772 (2021)
   PUBMED   33576548
  REMARK    Review article
REFERENCE   3  (residues 1 to 160)
  AUTHORS   Zhang P, Nguyen J, Abdulla F, Nelson AT, Beckman JD, Vercellotti GM
            and Belcher JD.
  TITLE     Soluble MD-2 and Heme in Sickle Cell Disease Plasma Promote
            Pro-Inflammatory Signaling in Endothelial Cells
  JOURNAL   Front Immunol 12, 632709 (2021)
   PUBMED   33841413
  REMARK    GeneRIF: Soluble MD-2 and Heme in Sickle Cell Disease Plasma
            Promote Pro-Inflammatory Signaling in Endothelial Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 160)
  AUTHORS   Huang S, You S, Qian J, Dai C, Shen S, Wang J, Huang W, Liang G and
            Wu G.
  TITLE     Myeloid differentiation 2 deficiency attenuates AngII-induced
            arterial vascular oxidative stress, inflammation, and remodeling
  JOURNAL   Aging (Albany NY) 13 (3), 4409-4427 (2021)
   PUBMED   33495414
  REMARK    GeneRIF: Myeloid differentiation 2 deficiency attenuates
            AngII-induced arterial vascular oxidative stress, inflammation, and
            remodeling.
REFERENCE   5  (residues 1 to 160)
  AUTHORS   Bahraoui E, Serrero M and Planes R.
  TITLE     HIV-1 Tat - TLR4/MD2 interaction drives the expression of IDO-1 in
            monocytes derived dendritic cells through NF-kappaB dependent
            pathway
  JOURNAL   Sci Rep 10 (1), 8177 (2020)
   PUBMED   32424165
  REMARK    GeneRIF: HIV-1 Tat - TLR4/MD2 interaction drives the expression of
            IDO-1 in monocytes derived dendritic cells through NF-kappaB
            dependent pathway.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 160)
  AUTHORS   Schromm AB, Lien E, Henneke P, Chow JC, Yoshimura A, Heine H, Latz
            E, Monks BG, Schwartz DA, Miyake K and Golenbock DT.
  TITLE     Molecular genetic analysis of an endotoxin nonresponder mutant cell
            line: a point mutation in a conserved region of MD-2 abolishes
            endotoxin-induced signaling
  JOURNAL   J Exp Med 194 (1), 79-88 (2001)
   PUBMED   11435474
REFERENCE   7  (residues 1 to 160)
  AUTHORS   da Silva Correia J, Soldau K, Christen U, Tobias PS and Ulevitch
            RJ.
  TITLE     Lipopolysaccharide is in close proximity to each of the proteins in
            its membrane receptor complex. transfer from CD14 to TLR4 and MD-2
  JOURNAL   J Biol Chem 276 (24), 21129-21135 (2001)
   PUBMED   11274165
REFERENCE   8  (residues 1 to 160)
  AUTHORS   Dziarski R, Wang Q, Miyake K, Kirschning CJ and Gupta D.
  TITLE     MD-2 enables Toll-like receptor 2 (TLR2)-mediated responses to
            lipopolysaccharide and enhances TLR2-mediated responses to
            Gram-positive and Gram-negative bacteria and their cell wall
            components
  JOURNAL   J Immunol 166 (3), 1938-1944 (2001)
   PUBMED   11160242
REFERENCE   9  (residues 1 to 160)
  AUTHORS   Kato K, Morrison AM, Nakano T, Tashiro K and Honjo T.
  TITLE     ESOP-1, a secreted protein expressed in the hematopoietic, nervous,
            and reproductive systems of embryonic and adult mice
  JOURNAL   Blood 96 (1), 362-364 (2000)
   PUBMED   10891475
REFERENCE   10 (residues 1 to 160)
  AUTHORS   Shimazu R, Akashi S, Ogata H, Nagai Y, Fukudome K, Miyake K and
            Kimoto M.
  TITLE     MD-2, a molecule that confers lipopolysaccharide responsiveness on
            Toll-like receptor 4
  JOURNAL   J Exp Med 189 (11), 1777-1782 (1999)
   PUBMED   10359581
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022868.10 and AC087672.7.
            On May 17, 2019 this sequence version replaced NP_056179.3.
            
            Summary: This gene encodes a protein which associates with
            toll-like receptor 4 on the cell surface and confers responsiveness
            to lipopolysaccyaride (LPS), thus providing a link between the
            receptor and LPS signaling. Studies of the mouse ortholog suggest
            that this gene may be involved in endotoxin neutralization.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Sep 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.565086.1,
                                           SRR1163657.60102.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000284818.7/ ENSP00000284818.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..160
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.11"
     Protein         1..160
                     /product="lymphocyte antigen 96 isoform 1 precursor"
                     /note="myeloid differentiation protein-2; protein MD-2"
                     /calculated_mol_wt=16465
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2098
     mat_peptide     19..160
                     /product="lymphocyte antigen 96 isoform 1"
                     /calculated_mol_wt=16465
     Region          22..153
                     /region_name="ML"
                     /note="The ML (MD-2-related lipid-recognition) domain is
                     present in MD-1, MD-2, GM2 activator protein, Niemann-Pick
                     type C2 (Npc2) protein,
                     phosphatidylinositol/phosphatidylglycerol transfer protein
                     (PG/PI-TP), mite allergen Der p 2 and several proteins
                     of...; cl00274"
                     /db_xref="CDD:444802"
     Site            order(22,30,32,34,53,59,61,63,76,78,80,94,107,115,132,134,
                     136,138,146,149,151,153)
                     /site_type="other"
                     /note="putative lipid binding cavity [chemical binding]"
                     /db_xref="CDD:238454"
     Site            26
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17569869,
                     ECO:0007744|PDB:2E56, ECO:0007744|PDB:2E59; propagated
                     from UniProtKB/Swiss-Prot (Q9Y6Y9.2)"
     Site            114
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17569869,
                     ECO:0007744|PDB:2E56, ECO:0007744|PDB:2E59; propagated
                     from UniProtKB/Swiss-Prot (Q9Y6Y9.2)"
     Region          119..123
                     /region_name="Interaction with lipopolysaccharide.
                     /evidence=ECO:0000269|PubMed:17569869,
                     ECO:0000269|PubMed:17803912, ECO:0007744|PDB:2E56,
                     ECO:0007744|PDB:2E59, ECO:0007744|PDB:4G8A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6Y9.2)"
     CDS             1..160
                     /gene="LY96"
                     /gene_synonym="ESOP-1; ly-96; MD-2; MD2"
                     /coded_by="NM_015364.5:52..534"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS6216.1"
                     /db_xref="GeneID:23643"
                     /db_xref="HGNC:HGNC:17156"
                     /db_xref="MIM:605243"
ORIGIN      
        1 mlpflffstl fssifteaqk qywvcnssda sisytycdkm qypisinvnp cielkrskgl
       61 lhifyiprrd lkqlyfnlyi tvntmnlpkr kevicrgsdd dysfcralkg etvnttisfs
      121 fkgikfskgk ykcvveaisg speemlfcle fvilhqpnsn
//
LOCUS       NP_116037                163 aa            linear   PRI 25-DEC-2022
DEFINITION  protein FAM167B [Homo sapiens].
ACCESSION   NP_116037
VERSION     NP_116037.2
DBSOURCE    REFSEQ: accession NM_032648.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 163)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   2  (residues 1 to 163)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG282224.1 and BC004269.1.
            On Jul 7, 2006 this sequence version replaced NP_116037.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC004269.1, BU741530.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373582.4/ ENSP00000362684.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..163
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.2"
     Protein         1..163
                     /product="protein FAM167B"
                     /note="disordered autoimmunity 2"
                     /calculated_mol_wt=18283
     Region          90..163
                     /region_name="FAM167"
                     /note="pfam11652"
                     /db_xref="CDD:431980"
     CDS             1..163
                     /gene="FAM167B"
                     /gene_synonym="C1orf90; DIORA-2"
                     /coded_by="NM_032648.3:201..692"
                     /db_xref="CCDS:CCDS358.2"
                     /db_xref="GeneID:84734"
                     /db_xref="HGNC:HGNC:28133"
ORIGIN      
        1 mslgllkfqa vgeedeedee gesldsvkal taklqlqtrr psylewtaqv qsqawrraqa
       61 kpgpggpgdi cgfdsmdsal ewlrrelrem qaqdrqlagq llrlraqlhr lkmdqachlh
      121 qelldeaele lelepgagla lapllrhlgl trmnisarrf tlc
//
LOCUS       NP_775495                118 aa            linear   PRI 25-DEC-2022
DEFINITION  eukaryotic translation initiation factor 4E type 3 isoform b [Homo
            sapiens].
ACCESSION   NP_775495
VERSION     NP_775495.1
DBSOURCE    REFSEQ: accession NM_173359.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 118)
  AUTHORS   Weiss B, Allen GE, Kloehn J, Abid K, Jaquier-Gubler P and Curran
            JA.
  TITLE     eIF4E3 forms an active eIF4F complex during stresses (eIF4FS)
            targeting mTOR and re-programs the translatome
  JOURNAL   Nucleic Acids Res 49 (9), 5159-5176 (2021)
   PUBMED   33893802
  REMARK    GeneRIF: eIF4E3 forms an active eIF4F complex during stresses
            (eIF4FS) targeting mTOR and re-programs the translatome.
REFERENCE   2  (residues 1 to 118)
  AUTHORS   Mrvova S, Frydryskova K, Pospisek M, Vopalensky V and Masek T.
  TITLE     Major splice variants and multiple polyadenylation site utilization
            in mRNAs encoding human translation initiation factors eIF4E1 and
            eIF4E3 regulate the translational regulators?
  JOURNAL   Mol Genet Genomics 293 (1), 167-186 (2018)
   PUBMED   28942592
  REMARK    GeneRIF: We performed bioinformatics analyses of ESTs and the
            3'UTRs of the main transcript splice variants of the translational
            initiation factor eIF4E1 and its family members, eIF4E2 and eIF4E3.
            We propose to elucidate the minor splice variants of eIF4E2 and
            eIF4E3 in great detail because they might produce proteins with
            modified features that fulfill different cellular roles from their
            major counterparts.
REFERENCE   3  (residues 1 to 118)
  AUTHORS   Frydryskova K, Masek T, Borcin K, Mrvova S, Venturi V and Pospisek
            M.
  TITLE     Distinct recruitment of human eIF4E isoforms to processing bodies
            and stress granules
  JOURNAL   BMC Mol Biol 17 (1), 21 (2016)
   PUBMED   27578149
  REMARK    GeneRIF: Following heat shock, eIF4E2 is found in both processing
            bodies and stress granules, whereas eIF4E3_A relocates only to
            stress granules.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 118)
  AUTHORS   Landon AL, Muniandy PA, Shetty AC, Lehrmann E, Volpon L, Houng S,
            Zhang Y, Dai B, Peroutka R, Mazan-Mamczarz K, Steinhardt J,
            Mahurkar A, Becker KG, Borden KL and Gartenhaus RB.
  TITLE     MNKs act as a regulatory switch for eIF4E1 and eIF4E3 driven mRNA
            translation in DLBCL
  JOURNAL   Nat Commun 5, 5413 (2014)
   PUBMED   25403230
  REMARK    GeneRIF: MNK1 and MNK2 inhibition ablates eIF4E1 phosphorylation
            and concurrently enhances eIF4E3 expression in diffuse large B-cell
            lymphoma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 118)
  AUTHORS   Volpon,L., Osborne,M.J., Culjkovic-Kraljacic,B. and Borden,K.L.
  TITLE     eIF4E3, a new actor in mRNA metabolism and tumor suppression
  JOURNAL   Cell Cycle 12 (8), 1159-1160 (2013)
   PUBMED   23587918
  REMARK    GeneRIF: eIF4E3 impedes oncogenic transformation and its expression
            is lost in some cancers.
REFERENCE   6  (residues 1 to 118)
  AUTHORS   Osborne MJ, Volpon L, Kornblatt JA, Culjkovic-Kraljacic B, Baguet A
            and Borden KL.
  TITLE     eIF4E3 acts as a tumor suppressor by utilizing an atypical mode of
            methyl-7-guanosine cap recognition
  JOURNAL   Proc Natl Acad Sci U S A 110 (10), 3877-3882 (2013)
   PUBMED   23431134
REFERENCE   7  (residues 1 to 118)
  AUTHORS   Joshi B, Cameron A and Jagus R.
  TITLE     Characterization of mammalian eIF4E-family members
  JOURNAL   Eur J Biochem 271 (11), 2189-2203 (2004)
   PUBMED   15153109
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK313656.1, BC068443.1, AC097634.2 and AL161983.1.
            
            Summary: EIF4E3 belongs to the EIF4E family of translational
            initiation factors that interact with the 5-prime cap structure of
            mRNA and recruit mRNA to the ribosome (Joshi et al., 2004 [PubMed
            15153109]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (2) differs in its 5' UTR and
            initiates translation at a downstream start codon, compared to
            variant 1. The encoded isoform (b) has a shorter N-terminus,
            compared to isoform a. Variants 2-5 encode the same isoform.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.71945.1,
                                           SRR1803615.130344.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..118
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p13"
     Protein         1..118
                     /product="eukaryotic translation initiation factor 4E type
                     3 isoform b"
                     /note="eukaryotic translation initiation factor 4E type 3"
                     /calculated_mol_wt=13202
     Region          <6..92
                     /region_name="IF4E"
                     /note="Eukaryotic initiation factor 4E; pfam01652"
                     /db_xref="CDD:426366"
     CDS             1..118
                     /gene="EIF4E3"
                     /gene_synonym="eIF-4E3; eIF4E-3"
                     /coded_by="NM_173359.5:421..777"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS33786.1"
                     /db_xref="GeneID:317649"
                     /db_xref="HGNC:HGNC:31837"
                     /db_xref="MIM:609896"
ORIGIN      
        1 mrgerrplwe eesnakggvw kmkvpkdsts tvwkelllat igeqftdcaa addevigvsv
       61 svrdredvvq vwnvnaslvg eatvlekiye llphitfkav fykpheehha feggrgkh
//
LOCUS       NP_002483                189 aa            linear   PRI 25-DEC-2022
DEFINITION  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5,
            mitochondrial isoform 1 precursor [Homo sapiens].
ACCESSION   NP_002483
VERSION     NP_002483.1
DBSOURCE    REFSEQ: accession NM_002492.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 189)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 189)
  AUTHORS   Kang K, Li J, Li R, Xu X, Liu J, Qin L, Huang T, Wu J, Jiao M, Wei
            M, Wang H, Wang T and Zhang Q.
  TITLE     Potentially Critical Roles of NDUFB5, TIMMDC1, and VDAC3 in the
            Progression of Septic Cardiomyopathy Through Integrated
            Bioinformatics Analysis
  JOURNAL   DNA Cell Biol 39 (1), 105-117 (2020)
   PUBMED   31794266
  REMARK    GeneRIF: Data suggest that the hub genes NADH:ubiquinone
            oxidoreductase subunit B5 (NDUFB5), translocase of inner
            mitochondrial membrane domain containing 1 (TIMMDC1), and
            voltage-dependent anion channel 3 (VDAC3) might serve as potential
            biomarkers for diagnosis and/or therapeutic targets for precise
            treatment of septic cardiomyopathy (SC) .
REFERENCE   3  (residues 1 to 189)
  AUTHORS   Signes A and Fernandez-Vizarra E.
  TITLE     Assembly of mammalian oxidative phosphorylation complexes I-V and
            supercomplexes
  JOURNAL   Essays Biochem 62 (3), 255-270 (2018)
   PUBMED   30030361
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 189)
  AUTHORS   Guo R, Zong S, Wu M, Gu J and Yang M.
  TITLE     Architecture of Human Mitochondrial Respiratory Megacomplex
            I2III2IV2
  JOURNAL   Cell 170 (6), 1247-1257 (2017)
   PUBMED   28844695
REFERENCE   5  (residues 1 to 189)
  AUTHORS   Stroud DA, Surgenor EE, Formosa LE, Reljic B, Frazier AE, Dibley
            MG, Osellame LD, Stait T, Beilharz TH, Thorburn DR, Salim A and
            Ryan MT.
  TITLE     Accessory subunits are integral for assembly and function of human
            mitochondrial complex I
  JOURNAL   Nature 538 (7623), 123-126 (2016)
   PUBMED   27626371
REFERENCE   6  (residues 1 to 189)
  AUTHORS   Starr JM, Shiels PG, Harris SE, Pattie A, Pearce MS, Relton CL and
            Deary IJ.
  TITLE     Oxidative stress, telomere length and biomarkers of physical aging
            in a cohort aged 79 years from the 1932 Scottish Mental Survey
  JOURNAL   Mech Ageing Dev 129 (12), 745-751 (2008)
   PUBMED   18977241
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 189)
  AUTHORS   Harris SE, Fox H, Wright AF, Hayward C, Starr JM, Whalley LJ and
            Deary IJ.
  TITLE     A genetic association analysis of cognitive ability and cognitive
            ageing using 325 markers for 109 genes associated with oxidative
            stress or cognition
  JOURNAL   BMC Genet 8, 43 (2007)
   PUBMED   17601350
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 189)
  AUTHORS   Murray J, Zhang B, Taylor SW, Oglesbee D, Fahy E, Marusich MF,
            Ghosh SS and Capaldi RA.
  TITLE     The subunit composition of the human NADH dehydrogenase obtained by
            rapid one-step immunopurification
  JOURNAL   J Biol Chem 278 (16), 13619-13622 (2003)
   PUBMED   12611891
REFERENCE   9  (residues 1 to 189)
  AUTHORS   Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA,
            Smeets RJ, Trijbels JM and Smeitink JA.
  TITLE     cDNA of eight nuclear encoded subunits of NADH:ubiquinone
            oxidoreductase: human complex I cDNA characterization completed
  JOURNAL   Biochem Biophys Res Commun 253 (2), 415-422 (1998)
   PUBMED   9878551
REFERENCE   10 (residues 1 to 189)
  AUTHORS   Ton C, Hwang DM, Dempsey AA and Liew CC.
  TITLE     Identification and primary structure of five human NADH-ubiquinone
            oxidoreductase subunits
  JOURNAL   Biochem Biophys Res Commun 241 (2), 589-594 (1997)
   PUBMED   9425316
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA112751.1, BC009796.1,
            CD364869.1 and AC090425.15.
            
            Summary: The protein encoded by this gene is a subunit of the
            multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian
            complex I is composed of 45 different subunits. It locates at the
            mitochondrial inner membrane. This protein has NADH dehydrogenase
            activity and oxidoreductase activity. It transfers electrons from
            NADH to the respiratory chain. The immediate electron acceptor for
            the enzyme is believed to be ubiquinone. Three transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jan 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BF575756.1, SRR1803615.98981.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000259037.8/
                                                  ENSP00000259037.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..189
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.33"
     Protein         1..189
                     /product="NADH dehydrogenase [ubiquinone] 1 beta
                     subcomplex subunit 5, mitochondrial isoform 1 precursor"
                     /EC_number="7.1.1.2"
                     /EC_number="1.6.99.3"
                     /note="complex I SGDH subunit; NADH-ubiquinone
                     oxidoreductase SGDH subunit; complex I-SGDH; NADH
                     dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa"
                     /calculated_mol_wt=17002
     Region          1..189
                     /region_name="NDUF_B5"
                     /note="NADH:ubiquinone oxidoreductase, NDUFB5/SGDH
                     subunit; pfam09781"
                     /db_xref="CDD:430820"
     transit_peptide 1..46
                     /note="Mitochondrion. /evidence=ECO:0000250; propagated
                     from UniProtKB/Swiss-Prot (O43674.1)"
                     /calculated_mol_wt=4767
     mat_peptide     47..189
                     /product="NADH dehydrogenase [ubiquinone] 1 beta
                     subcomplex subunit 5, mitochondrial. /id=PRO_0000020052"
                     /note="propagated from UniProtKB/Swiss-Prot (O43674.1)"
                     /calculated_mol_wt=17002
     Site            73..93
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43674.1)"
     CDS             1..189
                     /gene="NDUFB5"
                     /gene_synonym="CISGDH; SGDH"
                     /coded_by="NM_002492.4:23..592"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS3234.1"
                     /db_xref="GeneID:4711"
                     /db_xref="HGNC:HGNC:7700"
                     /db_xref="MIM:603841"
ORIGIN      
        1 maamsllrrv svtavaalsg rplgtrlgfg gfltrgfpka aapvrhsgdh gkrlfvirps
       61 rfydrrflkl lrfyialtgi pvaifitlvn vfigqaelae ipegyvpehw eyykhpisrw
      121 iarnfydspe kiyertmavl qieaekaelr vkelevrklm hvrgdgpwyy yetidkelid
      181 hspkatpdn
//
LOCUS       NP_001311003             253 aa            linear   PRI 26-DEC-2022
DEFINITION  cyclin-dependent kinase 7 isoform 4 [Homo sapiens].
ACCESSION   NP_001311003
VERSION     NP_001311003.1
DBSOURCE    REFSEQ: accession NM_001324074.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 253)
  AUTHORS   Paulsen FO, Kang D, Becker F, Roth D, Joerg V, Dreyer E, Roesch MC,
            Seidel C, Merseburger AS, Kirfel J, Sailer V, Offermann A and
            Perner S.
  TITLE     Targeting cyclin-dependent kinase 7-association between CDK7 and
            pMED1 expression in prostate cancer tissue
  JOURNAL   Carcinogenesis 43 (8), 779-786 (2022)
   PUBMED   35512686
  REMARK    GeneRIF: Targeting cyclin-dependent kinase 7-association between
            CDK7 and pMED1 expression in prostate cancer tissue.
REFERENCE   2  (residues 1 to 253)
  AUTHORS   Zhang T, Li J, Yang M, Ma X, Wang Z, Ma X, Sun M, Sun W, Xu J, Hua
            Y and Cai Z.
  TITLE     CDK7/GRP78 signaling axis contributes to tumor growth and
            metastasis in osteosarcoma
  JOURNAL   Oncogene 41 (40), 4524-4536 (2022)
   PUBMED   36042349
  REMARK    GeneRIF: CDK7/GRP78 signaling axis contributes to tumor growth and
            metastasis in osteosarcoma.
REFERENCE   3  (residues 1 to 253)
  AUTHORS   Li X, Dean DC, Yuan J, Temple TH, Trent JC, Rosenberg AE, Yu S,
            Hornicek FJ and Duan Z.
  TITLE     Inhibition of CDK7-dependent transcriptional addiction is a
            potential therapeutic target in synovial sarcoma
  JOURNAL   Biomed Pharmacother 149, 112888 (2022)
   PUBMED   35367753
  REMARK    GeneRIF: Inhibition of CDK7-dependent transcriptional addiction is
            a potential therapeutic target in synovial sarcoma.
REFERENCE   4  (residues 1 to 253)
  AUTHORS   Lin Y, Xue K, Li Q, Liu Z, Zhu Z, Chen J, Dang E, Wang L, Zhang W,
            Wang G and Li B.
  TITLE     Cyclin-Dependent Kinase 7 Promotes Th17/Th1 Cell Differentiation in
            Psoriasis by Modulating Glycolytic Metabolism
  JOURNAL   J Invest Dermatol 141 (11), 2656-2667 (2021)
   PUBMED   34004188
  REMARK    GeneRIF: Cyclin-Dependent Kinase 7 Promotes Th17/Th1 Cell
            Differentiation in Psoriasis by Modulating Glycolytic Metabolism.
REFERENCE   5  (residues 1 to 253)
  AUTHORS   Berico P, Cigrang M, Davidson G, Braun C, Sandoz J, Legras S,
            Vokshi BH, Slovic N, Peyresaubes F, Gene Robles CM, Egly JM, Compe
            E, Davidson I and Coin F.
  TITLE     CDK7 and MITF repress a transcription program involved in survival
            and drug tolerance in melanoma
  JOURNAL   EMBO Rep 22 (9), e51683 (2021)
   PUBMED   34296805
  REMARK    GeneRIF: CDK7 and MITF repress a transcription program involved in
            survival and drug tolerance in melanoma.
REFERENCE   6  (residues 1 to 253)
  AUTHORS   Aprelikova O, Xiong Y and Liu ET.
  TITLE     Both p16 and p21 families of cyclin-dependent kinase (CDK)
            inhibitors block the phosphorylation of cyclin-dependent kinases by
            the CDK-activating kinase
  JOURNAL   J Biol Chem 270 (31), 18195-18197 (1995)
   PUBMED   7629134
REFERENCE   7  (residues 1 to 253)
  AUTHORS   Shiekhattar R, Mermelstein F, Fisher RP, Drapkin R, Dynlacht B,
            Wessling HC, Morgan DO and Reinberg D.
  TITLE     Cdk-activating kinase complex is a component of human transcription
            factor TFIIH
  JOURNAL   Nature 374 (6519), 283-287 (1995)
   PUBMED   7533895
REFERENCE   8  (residues 1 to 253)
  AUTHORS   Desai D, Wessling HC, Fisher RP and Morgan DO.
  TITLE     Effects of phosphorylation by CAK on cyclin binding by CDC2 and
            CDK2
  JOURNAL   Mol Cell Biol 15 (1), 345-350 (1995)
   PUBMED   7799941
REFERENCE   9  (residues 1 to 253)
  AUTHORS   Jacob GA, Luse SW and Luse DS.
  TITLE     Abortive initiation is increased only for the weakest members of a
            set of down mutants of the adenovirus 2 major late promoter
  JOURNAL   J Biol Chem 266 (33), 22537-22544 (1991)
   PUBMED   1939271
REFERENCE   10 (residues 1 to 253)
  AUTHORS   Conaway RC and Conaway JW.
  TITLE     ATP activates transcription initiation from promoters by RNA
            polymerase II in a reversible step prior to RNA synthesis
  JOURNAL   J Biol Chem 263 (6), 2962-2968 (1988)
   PUBMED   2449431
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC145132.2.
            
            Summary: The protein encoded by this gene is a member of the
            cyclin-dependent protein kinase (CDK) family. CDK family members
            are highly similar to the gene products of Saccharomyces cerevisiae
            cdc28, and Schizosaccharomyces pombe cdc2, and are known to be
            important regulators of cell cycle progression. This protein forms
            a trimeric complex with cyclin H and MAT1, which functions as a
            Cdk-activating kinase (CAK). It is an essential component of the
            transcription factor TFIIH, that is involved in transcription
            initiation and DNA repair. This protein is thought to serve as a
            direct link between the regulation of transcription and the cell
            cycle. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.369655.1,
                                           SRR1803611.334412.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..253
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     Protein         1..253
                     /product="cyclin-dependent kinase 7 isoform 4"
                     /EC_number="2.7.11.23"
                     /EC_number="2.7.11.22"
                     /note="cyclin-dependent kinase 7 (MO15 homolog, Xenopus
                     laevis, cdk-activating kinase); serine/threonine kinase
                     stk1; serine/threonine protein kinase 1; serine/threonine
                     protein kinase MO15; homolog of Xenopus MO15
                     Cdk-activating kinase; kinase subunit of CAK; 39 KDa
                     protein kinase; cell division protein kinase 7; TFIIH
                     basal transcription factor complex kinase subunit;
                     CDK-activating kinase 1"
                     /calculated_mol_wt=28371
     Region          <1..215
                     /region_name="STKc_CDK7"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Cyclin-Dependent protein Kinase 7; cd07841"
                     /db_xref="CDD:270833"
     Site            order(6,44,46,65,77,79..82,84,122..123)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270833"
     Site            order(61..72,74..84)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270833"
     CDS             1..253
                     /gene="CDK7"
                     /gene_synonym="CAK; CAK1; CDKN7; HCAK; MO15; p39MO15;
                     STK1"
                     /coded_by="NM_001324074.2:336..1097"
                     /note="isoform 4 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS83002.1"
                     /db_xref="GeneID:1022"
                     /db_xref="HGNC:HGNC:1778"
                     /db_xref="MIM:601955"
ORIGIN      
        1 metdleviik dnslvltpsh ikaymlmtlq gleylhqhwi lhrdlkpnnl lldengvlkl
       61 adfglaksfg spnraythqv vtrwyrapel lfgarmygvg vdmwavgcil aelllrvpfl
      121 pgdsdldqlt rifetlgtpt eeqwpdmcsl pdyvtfksfp giplhhifsa agddlldliq
      181 glflfnpcar itatqalkmk yfsnrpgptp gcqlprpncp vetlkeqsnp alaikrkrte
      241 aleqgglpkk lif
//
LOCUS       NP_001308662             766 aa            linear   PRI 27-DEC-2022
DEFINITION  exocyst complex component 6B isoform 5 [Homo sapiens].
ACCESSION   NP_001308662
VERSION     NP_001308662.1
DBSOURCE    REFSEQ: accession NM_001321733.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 766)
  AUTHORS   Simsek-Kiper PO, Jacob P, Upadhyai P, Taskiran ZE, Guleria VS,
            Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah
            H, Utine GE, Boduroglu K and Girisha KM.
  TITLE     Biallelic loss-of-function variants in EXOC6B are associated with
            impaired primary ciliogenesis and cause spondylo-epi-metaphyseal
            dysplasia with joint laxity type 3
  JOURNAL   Hum Mutat 43 (12), 2116-2129 (2022)
   PUBMED   36150098
  REMARK    GeneRIF: Biallelic loss-of-function variants in EXOC6B are
            associated with impaired primary ciliogenesis and cause
            spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
            Review article
REFERENCE   2  (residues 1 to 766)
  AUTHORS   Zheng Y, Li Z, Yang S, Wang Y and Luan Z.
  TITLE     CircEXOC6B Suppresses the Proliferation and Motility and Sensitizes
            Ovarian Cancer Cells to Paclitaxel Through miR-376c-3p/FOXO3 Axis
  JOURNAL   Cancer Biother Radiopharm 37 (9), 802-814 (2022)
   PUBMED   33006481
  REMARK    GeneRIF: CircEXOC6B Suppresses the Proliferation and Motility and
            Sensitizes Ovarian Cancer Cells to Paclitaxel Through
            miR-376c-3p/FOXO3 Axis.
REFERENCE   3  (residues 1 to 766)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 766)
  AUTHORS   Girisha KM, Kortum F, Shah H, Alawi M, Dalal A, Bhavani GS and
            Kutsche K.
  TITLE     A novel multiple joint dislocation syndrome associated with a
            homozygous nonsense variant in the EXOC6B gene
  JOURNAL   Eur J Hum Genet 24 (8), 1206-1210 (2016)
   PUBMED   26669664
  REMARK    GeneRIF: Homozygous nonsense variant in EXOC6B identified in two
            brothers with spondyloepimetaphyseal dysplasia and multiple joint
            dislocations syndrome.
REFERENCE   5  (residues 1 to 766)
  AUTHORS   Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y,
            van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ,
            Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ,
            Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B,
            Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM,
            Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E,
            Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ,
            Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U,
            Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB and
            Roepman R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 766)
  AUTHORS   Fruhmesser A, Blake J, Haberlandt E, Baying B, Raeder B, Runz H,
            Spreiz A, Fauth C, Benes V, Utermann G, Zschocke J and Kotzot D.
  TITLE     Disruption of EXOC6B in a patient with developmental delay,
            epilepsy, and a de novo balanced t(2;8) translocation
  JOURNAL   Eur J Hum Genet 21 (10), 1177-1180 (2013)
   PUBMED   23422942
REFERENCE   7  (residues 1 to 766)
  AUTHORS   Heider MR and Munson M.
  TITLE     Exorcising the exocyst complex
  JOURNAL   Traffic 13 (7), 898-907 (2012)
   PUBMED   22420621
  REMARK    Review article
REFERENCE   8  (residues 1 to 766)
  AUTHORS   Feng S, Knodler A, Ren J, Zhang J, Zhang X, Hong Y, Huang S,
            Peranen J and Guo W.
  TITLE     A Rab8 guanine nucleotide exchange factor-effector interaction
            network regulates primary ciliogenesis
  JOURNAL   J Biol Chem 287 (19), 15602-15609 (2012)
   PUBMED   22433857
  REMARK    GeneRIF: Data suggest that the Rabin8-Rab8-Sec15 interaction may
            couple the activation of Rab8 to the recruitment of the Rab8
            effector and is involved in the regulation of vesicular trafficking
            for primary cilium formation.
REFERENCE   9  (residues 1 to 766)
  AUTHORS   Borsani G, Piovani G, Zoppi N, Bertini V, Bini R, Notarangelo L and
            Barlati S.
  TITLE     Cytogenetic and molecular characterization of a de-novo t(2p;7p)
            translocation involving TNS3 and EXOC6B genes in a boy with a
            complex syndromic phenotype
  JOURNAL   Eur J Med Genet 51 (4), 292-302 (2008)
   PUBMED   18424204
  REMARK    GeneRIF: TNS3-EXOC6B and EXOC6B-TNS3 fusion transcripts are
            detected in a premature male newborn with a complex multisystemic
            phenotype associated with a balanced translocation.
REFERENCE   10 (residues 1 to 766)
  AUTHORS   Brymora A, Valova VA, Larsen MR, Roufogalis BD and Robinson PJ.
  TITLE     The brain exocyst complex interacts with RalA in a GTP-dependent
            manner: identification of a novel mammalian Sec3 gene and a second
            Sec15 gene
  JOURNAL   J Biol Chem 276 (32), 29792-29797 (2001)
   PUBMED   11406615
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092630.3, AC016770.10,
            AC104309.3, AC105051.1, AC006461.2 and BM995822.1.
            
            Summary: This gene encodes a protein which is a part of the
            evolutionarily conserved exocyst, a multimeric protein complex
            necessary for exocytosis, which in turn, is crucial for cell
            growth, polarity and migration. Disruption of this gene may be
            associated with phenotypes exhibiting multiple symptoms including
            intellectual disability and developmental delay (DD). [provided by
            RefSeq, Jun 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.2084473.1,
                                           SRR18074969.3113756.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..766
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.2"
     Protein         1..766
                     /product="exocyst complex component 6B isoform 5"
                     /note="SEC15 homolog B; SEC15-like protein 2; exocyst
                     complex component Sec15B"
                     /calculated_mol_wt=88891
     Region          465..726
                     /region_name="Sec15"
                     /note="Exocyst complex subunit Sec15-like; pfam04091"
                     /db_xref="CDD:427706"
     CDS             1..766
                     /gene="EXOC6B"
                     /gene_synonym="SEC15B; SEC15L2; SEMDJL3"
                     /coded_by="NM_001321733.2:124..2424"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="GeneID:23233"
                     /db_xref="HGNC:HGNC:17085"
                     /db_xref="MIM:607880"
ORIGIN      
        1 mergkmaeae sletaaeher ilreiestdt acigptlrsv ydgeehgrfm ekletrirnh
       61 dreiekmcnf hyqgfvdsit ellkvrgeaq klknqvtdtn rklqhegkel viameelkqc
      121 rlqqrnisat vdklmlclpv lemysklrdq mktkrhypal ktlehlehty lpqvshyrfc
      181 kvmvdnipkl reeikdvsms dlkdflesir khsdkigeta mkqaqqqrnl dnivlqqpri
      241 gskrkskkda yiifdteies tspkseqdsg ildvedeedd eevpgaqdlv dfspvyrclh
      301 iysvlgaret fenyyrkqrr kqarlvlqpp snmhetldgy rkyfnqivgf fvvedhilht
      361 tqglvnrayi delwemalsk tiaalrthss ycsdpnlvld lknlivlfad tlqvygfpvn
      421 qlfdmlleir dqysetllkk wagifrnild sdnyspipvt seemykkvvg qfpfqdiele
      481 kqpfpkkfpf sefvpkvynq ikefiyaclk fsedlhlsst evddmirkst nllltrtlsn
      541 slqnvikrkn igltedarha aeeeiytnln qkidqflqla dydwmtgdlg nkasdylvdl
      601 iaflrstfav fthlpgkvaq tacmsackhl atslmqllle aevrqltlga lqqfnldvre
      661 ceqfarsgpv pgfqedtlql afidlrqlld lfiqwdwsty ladygqpnck ylrvnpvtal
      721 tllekmkdts rknnmfaqfr knerdkqkli dtvakqlrgl isshhs
//
LOCUS       NP_001368849             224 aa            linear   PRI 28-DEC-2022
DEFINITION  synaptophysin-like protein 1 isoform k [Homo sapiens].
ACCESSION   NP_001368849
VERSION     NP_001368849.1
DBSOURCE    REFSEQ: accession NM_001381920.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 224)
  AUTHORS   Shu T, Wu K, Guo Y, He Q, Song X, Shan J, Wu L, Liu J, Wang Z, Liu
            L and Sun X.
  TITLE     Evaluation of fecal SYPL1 as a diagnostic biomarker in colorectal
            cancer
  JOURNAL   Clin Biochem 103, 8-15 (2022)
   PUBMED   35218739
  REMARK    GeneRIF: Evaluation of fecal SYPL1 as a diagnostic biomarker in
            colorectal cancer.
REFERENCE   2  (residues 1 to 224)
  AUTHORS   Liu L, He Q, Li Y, Zhang B, Sun X, Shan J, Pan B, Zhang T, Zhao Z,
            Song X and Guo Y.
  TITLE     Serum SYPL1 is a promising diagnostic biomarker for colorectal
            cancer
  JOURNAL   Clin Chim Acta 509, 36-42 (2020)
   PUBMED   32502495
  REMARK    GeneRIF: Serum SYPL1 is a promising diagnostic biomarker for
            colorectal cancer.
REFERENCE   3  (residues 1 to 224)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 224)
  AUTHORS   Hacker B, Schultheiss C, Doring M and Kurzik-Dumke U.
  TITLE     Molecular partners of hNOT/ALG3, the human counterpart of the
            Drosophila NOT and yeast ALG3 gene, suggest its involvement in
            distinct cellular processes relevant to congenital disorders of
            glycosylation, cancer, neurodegeneration and a variety of further
            pathologies
  JOURNAL   Hum Mol Genet 27 (11), 1858-1878 (2018)
   PUBMED   29547901
REFERENCE   5  (residues 1 to 224)
  AUTHORS   Chen DH, Wu QW, Li XD, Wang SJ and Zhang ZM.
  TITLE     SYPL1 overexpression predicts poor prognosis of hepatocellular
            carcinoma and associates with epithelial-mesenchymal transition
  JOURNAL   Oncol Rep 38 (3), 1533-1542 (2017)
   PUBMED   28731154
  REMARK    GeneRIF: SYPL1 overexpression predicts poor prognosis of HCC.
REFERENCE   6  (residues 1 to 224)
  AUTHORS   Brooks CC, Scherer PE, Cleveland K, Whittemore JL, Lodish HF and
            Cheatham B.
  TITLE     Pantophysin is a phosphoprotein component of adipocyte transport
            vesicles and associates with GLUT4-containing vesicles
  JOURNAL   J Biol Chem 275 (3), 2029-2036 (2000)
   PUBMED   10636906
REFERENCE   7  (residues 1 to 224)
  AUTHORS   Windoffer R, Borchert-Stuhltrager M, Haass NK, Thomas S, Hergt M,
            Bulitta CJ and Leube RE.
  TITLE     Tissue expression of the vesicle protein pantophysin
  JOURNAL   Cell Tissue Res 296 (3), 499-510 (1999)
   PUBMED   10370136
REFERENCE   8  (residues 1 to 224)
  AUTHORS   Haass NK, Kartenbeck MA and Leube RE.
  TITLE     Pantophysin is a ubiquitously expressed synaptophysin homologue and
            defines constitutive transport vesicles
  JOURNAL   J Cell Biol 134 (3), 731-746 (1996)
   PUBMED   8707851
REFERENCE   9  (residues 1 to 224)
  AUTHORS   Leube RE.
  TITLE     Expression of the synaptophysin gene family is not restricted to
            neuronal and neuroendocrine differentiation in rat and human
  JOURNAL   Differentiation 56 (3), 163-171 (1994)
   PUBMED   8034131
REFERENCE   10 (residues 1 to 224)
  AUTHORS   Zhong CZ, Hayzer DJ and Runge MS.
  TITLE     Molecular cloning of a cDNA encoding a novel protein related to the
            neuronal vesicle protein synaptophysin
  JOURNAL   Biochim Biophys Acta 1129 (2), 235-238 (1992)
   PUBMED   1730063
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005095.2.
            
            Transcript Variant: This variant (12), as well as variant 13,
            encodes isoform k.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.321630.1,
                                           SRR11853565.26534.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..224
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.3"
     Protein         1..224
                     /product="synaptophysin-like protein 1 isoform k"
                     /note="pantophysin; synaptophysin-like protein 1"
                     /calculated_mol_wt=24653
     Region          <91..185
                     /region_name="MARVEL"
                     /note="Membrane-associating domain; pfam01284"
                     /db_xref="CDD:366555"
     CDS             1..224
                     /gene="SYPL1"
                     /gene_synonym="H-SP1; SYPL"
                     /coded_by="NM_001381920.1:105..779"
                     /note="isoform k is encoded by transcript variant 12"
                     /db_xref="CCDS:CCDS94173.1"
                     /db_xref="GeneID:6856"
                     /db_xref="HGNC:HGNC:11507"
                     /db_xref="MIM:616665"
ORIGIN      
        1 msgfqinlnp lkeplgfikv lewiasifaf atcggfkgqt eiqvncppav tenktvtatf
       61 gypfrlneas fqpppgvnic dvnwkdyvli gdysssaqfy vtfavfvfly ciaalllyvg
      121 ytslyldsrk lpmidfvvtl vatflwlvst sawakaltdi kiatghniid elppckkkav
      181 lcyfgsvtsm gslnvsvmef ryvaqtgvqw hdlgtlqppp pgfk
//
LOCUS       NP_057386                442 aa            linear   PRI 28-DEC-2022
DEFINITION  protein cereblon isoform 1 [Homo sapiens].
ACCESSION   NP_057386
VERSION     NP_057386.2
DBSOURCE    REFSEQ: accession NM_016302.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 442)
  AUTHORS   Ichikawa S, Flaxman HA, Xu W, Vallavoju N, Lloyd HC, Wang B, Shen
            D, Pratt MR and Woo CM.
  TITLE     The E3 ligase adapter cereblon targets the C-terminal cyclic imide
            degron
  JOURNAL   Nature 610 (7933), 775-782 (2022)
   PUBMED   36261529
  REMARK    GeneRIF: The E3 ligase adapter cereblon targets the C-terminal
            cyclic imide degron.
REFERENCE   2  (residues 1 to 442)
  AUTHORS   Kim MJ, Lee JS, Kim JY, Choi B, Son J, Min Y, Jeong SK, Kim DH, Lee
            JS, Chun E and Lee KY.
  TITLE     CRBN is downregulated in lung cancer and negatively regulates TLR2,
            4 and 7 stimulation in lung cancer cells
  JOURNAL   Clin Transl Med 12 (9), e1050 (2022)
   PUBMED   36164994
  REMARK    GeneRIF: CRBN is downregulated in lung cancer and negatively
            regulates TLR2, 4 and 7 stimulation in lung cancer cells.
REFERENCE   3  (residues 1 to 442)
  AUTHORS   Yamanaka S, Horiuchi Y, Matsuoka S, Kido K, Nishino K, Maeno M,
            Shibata N, Kosako H and Sawasaki T.
  TITLE     A proximity biotinylation-based approach to identify protein-E3
            ligase interactions induced by PROTACs and molecular glues
  JOURNAL   Nat Commun 13 (1), 183 (2022)
   PUBMED   35013300
  REMARK    GeneRIF: A proximity biotinylation-based approach to identify
            protein-E3 ligase interactions induced by PROTACs and molecular
            glues.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 442)
  AUTHORS   Shimizu N, Asatsuma-Okumura T, Yamamoto J, Yamaguchi Y, Handa H and
            Ito T.
  TITLE     PLZF and its fusion proteins are pomalidomide-dependent CRBN
            neosubstrates
  JOURNAL   Commun Biol 4 (1), 1277 (2021)
   PUBMED   34764413
  REMARK    GeneRIF: PLZF and its fusion proteins are pomalidomide-dependent
            CRBN neosubstrates.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 442)
  AUTHORS   Shen C, Nayak A, Neitzel LR, Adams AA, Silver-Isenstadt M, Sawyer
            LM, Benchabane H, Wang H, Bunnag N, Li B, Wynn DT, Yang F,
            Garcia-Contreras M, Williams CH, Dakshanamurthy S, Hong CC, Ayad
            NG, Capobianco AJ, Ahmed Y, Lee E and Robbins DJ.
  TITLE     The E3 ubiquitin ligase component, Cereblon, is an evolutionarily
            conserved regulator of Wnt signaling
  JOURNAL   Nat Commun 12 (1), 5263 (2021)
   PUBMED   34489457
  REMARK    GeneRIF: The E3 ubiquitin ligase component, Cereblon, is an
            evolutionarily conserved regulator of Wnt signaling.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 442)
  AUTHORS   Higgins JJ, Hao J, Kosofsky BE and Rajadhyaksha AM.
  TITLE     Dysregulation of large-conductance Ca2+-activated K+ channel
            expression in nonsyndromal mental retardation due to a cereblon
            p.R419X mutation
  JOURNAL   Neurogenetics 9 (3), 219-223 (2008)
   PUBMED   18414909
  REMARK    GeneRIF: Nonsense mutation (R419X) CRBN disturbs the development of
            adult brain BK(Ca) isoforms. These changes are predicted to result
            in BK(Ca) channels with a higher intracellular Ca(2+) sensitivity,
            faster activation, and slower deactivation kinetics.
REFERENCE   7  (residues 1 to 442)
  AUTHORS   Xin W, Xiaohua N, Peilin C, Xin C, Yaqiong S and Qihan W.
  TITLE     Primary function analysis of human mental retardation related gene
            CRBN
  JOURNAL   Mol Biol Rep 35 (2), 251-256 (2008)
   PUBMED   17380424
  REMARK    GeneRIF: This may suggest new functions of CRBN in cell nucleolus
            besides its mitochondria protease activity in cytoplasm.
REFERENCE   8  (residues 1 to 442)
  AUTHORS   Higgins JJ, Pucilowska J, Lombardi RQ and Rooney JP.
  TITLE     A mutation in a novel ATP-dependent Lon protease gene in a kindred
            with mild mental retardation
  JOURNAL   Neurology 63 (10), 1927-1931 (2004)
   PUBMED   15557513
  REMARK    GeneRIF: A nonsense mutation causing a premature stop codon in CRBN
            was found in a large kindred with mild mental retardation.
            ATP-dependent degradation of proteins may play a role in memory and
            learning.
REFERENCE   9  (residues 1 to 442)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM,
            Huang GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   10 (residues 1 to 442)
  AUTHORS   Higgins JJ, Rosen DR, Loveless JM, Clyman JC and Grau MJ.
  TITLE     A gene for nonsyndromic mental retardation maps to chromosome
            3p25-pter
  JOURNAL   Neurology 55 (3), 335-340 (2000)
   PUBMED   10932263
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC017419.1, BX647351.1 and
            AC024060.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 8, 2003 this sequence version replaced NP_057386.1.
            
            Summary: This gene encodes a protein related to the Lon protease
            protein family. In rodents and other mammals this gene product is
            found in the cytoplasm localized with a calcium channel membrane
            protein, and is thought to play a role in brain development.
            Mutations in this gene are associated with autosomal recessive
            nonsyndromic cognitive disability. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1) encodes the longer protein
            (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC059171.1, AK058191.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000231948.9/ ENSP00000231948.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..442
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p26.2"
     Protein         1..442
                     /product="protein cereblon isoform 1"
                     /note="protein x 0001"
                     /calculated_mol_wt=50415
     Region          1..45
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96SW2.1)"
     Site            25
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96SW2.1)"
     Region          80..317
                     /region_name="LON_substr_bdg"
                     /note="ATP-dependent protease La (LON) substrate-binding
                     domain; pfam02190"
                     /db_xref="CDD:426647"
     Region          321..422
                     /region_name="CRBN_C_like"
                     /note="Thalidomide-binding C-terminal domain of cereblon
                     (CRBN) and similar protein domains; cd15777"
                     /db_xref="CDD:276940"
     CDS             1..442
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /coded_by="NM_016302.4:5..1333"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2562.1"
                     /db_xref="GeneID:51185"
                     /db_xref="HGNC:HGNC:30185"
                     /db_xref="MIM:609262"
ORIGIN      
        1 magegdqqda ahnmgnhlpl lpaeseeede mevedqdske akkpniinfd tslptshtyl
       61 gadmeefhgr tlhdddscqv ipvlpqvmmi lipgqtlplq lfhpqevsmv rnliqkdrtf
      121 avlaysnvqe reaqfgttae iyayreeqdf gieivkvkai grqrfkvlel rtqsdgiqqa
      181 kvqilpecvl pstmsavqle slnkcqifps kpvsredqcs ykwwqkyqkr kfhcanltsw
      241 prwlyslyda etlmdrikkq lrewdenlkd dslpsnpidf syrvaaclpi ddvlriqllk
      301 igsaiqrlrc eldimnkcts lcckqcqete ittkneifsl slcgpmaayv nphgyvhetl
      361 tvykacnlnl igrpstehsw fpgyawtvaq ckicashigw kftatkkdms pqkfwgltrs
      421 allptipdte deispdkvil cl
//
LOCUS       NP_067013                531 aa            linear   PRI 29-DEC-2022
DEFINITION  polypyrimidine tract-binding protein 2 isoform 6 [Homo sapiens].
ACCESSION   NP_067013
VERSION     NP_067013.1
DBSOURCE    REFSEQ: accession NM_021190.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 531)
  AUTHORS   Mei H, Yin B, Yang W, Zhang J, Lu H, Qi X, Mei W, Zhang H and Zhang
            J.
  TITLE     Associations between Gene-Gene Interaction and Overweight/Obesity
            of 12-Month-Old Chinese Infants
  JOURNAL   Biomed Res Int 2022, 1499454 (2022)
   PUBMED   35295960
  REMARK    GeneRIF: Associations between Gene-Gene Interaction and
            Overweight/Obesity of 12-Month-Old Chinese Infants.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 531)
  AUTHORS   Kim JH, Jeong K, Li J, Murphy JM, Vukadin L, Stone JK, Richard A,
            Tran J, Gillespie GY, Flemington EK, Sobol RW, Lim SS and Ahn EE.
  TITLE     SON drives oncogenic RNA splicing in glioblastoma by regulating
            PTBP1/PTBP2 switching and RBFOX2 activity
  JOURNAL   Nat Commun 12 (1), 5551 (2021)
   PUBMED   34548489
  REMARK    GeneRIF: SON drives oncogenic RNA splicing in glioblastoma by
            regulating PTBP1/PTBP2 switching and RBFOX2 activity.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 531)
  AUTHORS   Mo C, Huang B, Zhuang J, Jiang S, Guo S and Mao X.
  TITLE     LncRNA nuclear-enriched abundant transcript 1 shuttled by prostate
            cancer cells-secreted exosomes initiates osteoblastic phenotypes in
            the bone metastatic microenvironment via miR-205-5p/runt-related
            transcription factor 2/splicing factor proline- and
            glutamine-rich/polypyrimidine tract-binding protein 2 axis
  JOURNAL   Clin Transl Med 11 (8), e493 (2021)
   PUBMED   34459124
  REMARK    GeneRIF: LncRNA nuclear-enriched abundant transcript 1 shuttled by
            prostate cancer cells-secreted exosomes initiates osteoblastic
            phenotypes in the bone metastatic microenvironment via
            miR-205-5p/runt-related transcription factor 2/splicing factor
            proline- and glutamine-rich/polypyrimidine tract-binding protein 2
            axis.
REFERENCE   4  (residues 1 to 531)
  AUTHORS   Paradis C, Cloutier P, Shkreta L, Toutant J, Klarskov K and Chabot
            B.
  TITLE     hnRNP I/PTB can antagonize the splicing repressor activity of
            SRp30c
  JOURNAL   RNA 13 (8), 1287-1300 (2007)
   PUBMED   17548433
  REMARK    GeneRIF: Study shows that PTB can function as an anti-repressor
            molecule to counteract the splicing inhibitory activity of SRp30c.
REFERENCE   5  (residues 1 to 531)
  AUTHORS   Romanelli MG, Lorenzi P and Morandi C.
  TITLE     Identification and analysis of the human neural polypyrimidine
            tract binding protein (nPTB) gene promoter region
  JOURNAL   Gene 356, 11-18 (2005)
   PUBMED   16002244
  REMARK    GeneRIF: The nPTB proximal promoter, although rich in G+C content
            and presenting putative binding sites for the transcription factors
            Sp1, NF-1, NF-kB and Oct-1, lacks a typical TATA box.
REFERENCE   6  (residues 1 to 531)
  AUTHORS   Rahman L, Bliskovski V, Kaye FJ and Zajac-Kaye M.
  TITLE     Evolutionary conservation of a 2-kb intronic sequence flanking a
            tissue-specific alternative exon in the PTBP2 gene
  JOURNAL   Genomics 83 (1), 76-84 (2004)
   PUBMED   14667811
REFERENCE   7  (residues 1 to 531)
  AUTHORS   Mitchell SA, Spriggs KA, Coldwell MJ, Jackson RJ and Willis AE.
  TITLE     The Apaf-1 internal ribosome entry segment attains the correct
            structural conformation for function via interactions with PTB and
            unr
  JOURNAL   Mol Cell 11 (3), 757-771 (2003)
   PUBMED   12667457
REFERENCE   8  (residues 1 to 531)
  AUTHORS   Rahman L, Bliskovski V, Reinhold W and Zajac-Kaye M.
  TITLE     Alternative splicing of brain-specific PTB defines a
            tissue-specific isoform pattern that predicts distinct functional
            roles
  JOURNAL   Genomics 80 (3), 245-249 (2002)
   PUBMED   12213192
REFERENCE   9  (residues 1 to 531)
  AUTHORS   Tateiwa H, Gotoh N, Ichikawa M, Kikuchi T and Yoshimura N.
  TITLE     Molecular cloning and characterization of human PTB-like protein: a
            possible retinal autoantigen of cancer-associated retinopathy
  JOURNAL   J Neuroimmunol 120 (1-2), 161-169 (2001)
   PUBMED   11694331
REFERENCE   10 (residues 1 to 531)
  AUTHORS   Markovtsov V, Nikolic JM, Goldman JA, Turck CW, Chou MY and Black
            DL.
  TITLE     Cooperative assembly of an hnRNP complex induced by a
            tissue-specific homolog of polypyrimidine tract binding protein
  JOURNAL   Mol Cell Biol 20 (20), 7463-7479 (2000)
   PUBMED   11003644
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB473562.1, AF176085.1,
            BC016582.2, AI968454.1 and AI052528.1.
            
            Summary: The protein encoded by this gene binds to intronic
            polypyrimidine clusters in pre-mRNA molecules and is implicated in
            controlling the assembly of other splicing-regulatory proteins.
            This protein is very similar to the polypyrimidine tract binding
            protein (PTB) but most of its isoforms are expressed primarily in
            the brain. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (6, also known as nPTB1) uses two
            alternate in-frame splice sites in the 3' coding region, compared
            to variant 1. The encoded isoform (6) is shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BK000526.1, AF176085.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000674951.1/ ENSP00000502818.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..531
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.3"
     Protein         1..531
                     /product="polypyrimidine tract-binding protein 2 isoform
                     6"
                     /note="neural polypyrimidine tract binding protein;
                     PTB-like protein; neurally-enriched homolog of PTB"
                     /calculated_mol_wt=57360
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9UKA9.1)"
     Site            26
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q91Z31; propagated from
                     UniProtKB/Swiss-Prot (Q9UKA9.1)"
     Site            27
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q91Z31; propagated from
                     UniProtKB/Swiss-Prot (Q9UKA9.1)"
     Region          57..531
                     /region_name="hnRNP-L_PTB"
                     /note="hnRNP-L/PTB/hephaestus splicing factor family;
                     TIGR01649"
                     /db_xref="CDD:273733"
     Site            308
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9UKA9.1)"
     CDS             1..531
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /coded_by="NM_021190.4:82..1677"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS754.1"
                     /db_xref="GeneID:58155"
                     /db_xref="HGNC:HGNC:17662"
                     /db_xref="MIM:608449"
ORIGIN      
        1 mdgivtevav gvkrgsdell sgsvlsspns nmssmvvtan gndskkfkge dkmdgapsrv
       61 lhirklpgev tetevialgl pfgkvtnilm lkgknqafle lateeaaitm vnyysavtph
      121 lrnqpiyiqy snhkelktdn tlnqraqavl qavtavqtan tplsgttvse savtpaqspv
      181 lriiidnmyy pvtldvlhqi fskfgavlki itftknnqfq allqygdpvn aqqaklaldg
      241 qniynacctl ridfsklvnl nvkynndksr dytrpdlpsg dgqpaldpai aaafaketsl
      301 lavpgalspl aipnaaaaaa aaaagrvgmp gvsaggntvl lvsnlneemv tpqslftlfg
      361 vygdvqrvki lynkkdsali qmadgnqsql amnhlngqkm ygkiirvtls khqtvqlpre
      421 glddqgltkd fgnsplhrfk kpgsknfqni fppsatlhls nippsvaeed lrtlfantgg
      481 tvkafkffqd hkmallqmat veeaiqalid lhnynlgenh hlrvsfskst i
//
LOCUS       NP_001350536             893 aa            linear   PRI 29-DEC-2022
DEFINITION  pre-mRNA-processing factor 40 homolog B isoform 3 [Homo sapiens].
ACCESSION   NP_001350536 XP_011536443
VERSION     NP_001350536.2
DBSOURCE    REFSEQ: accession NM_001363607.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 893)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 893)
  AUTHORS   Lorenzini PA, Chew RSE, Tan CW, Yong JY, Zhang F, Zheng J and Roca
            X.
  TITLE     Human PRPF40B regulates hundreds of alternative splicing targets
            and represses a hypoxia expression signature
  JOURNAL   RNA 25 (8), 905-920 (2019)
   PUBMED   31088860
  REMARK    GeneRIF: Study characterizes the transcriptomic regulation of
            PRPF40B in K562 cells upon knockout (KO) and rescue with MDS
            mutations, to reveal a set of targets with weak splice sites and
            A-rich motifs. Importantly, PRPF40B KO up-regulated a hypoxia
            signature which, together with its low expression in AML, suggests
            a role of PRPF40B in myeloid leukemias.
REFERENCE   3  (residues 1 to 893)
  AUTHORS   Becerra S, Montes M, Hernandez-Munain C and Sune C.
  TITLE     Prp40 pre-mRNA processing factor 40 homolog B (PRPF40B) associates
            with SF1 and U2AF65 and modulates alternative pre-mRNA splicing in
            vivo
  JOURNAL   RNA 21 (3), 438-457 (2015)
   PUBMED   25605964
  REMARK    GeneRIF: Placing our data in a functional context, we also show
            that PRPF40B depletion increased Fas/CD95 receptor number and cell
            apoptosis, which suggests the ability of PRPF40B to alter the
            alternative splicing of key apoptotic genes to regulate cell
            survival
REFERENCE   4  (residues 1 to 893)
  AUTHORS   Buschdorf JP and Stratling WH.
  TITLE     A WW domain binding region in methyl-CpG-binding protein MeCP2:
            impact on Rett syndrome
  JOURNAL   J Mol Med (Berl) 82 (2), 135-143 (2004)
   PUBMED   14618241
REFERENCE   5  (residues 1 to 893)
  AUTHORS   Passani LA, Bedford MT, Faber PW, McGinnis KM, Sharp AH, Gusella
            JF, Vonsattel JP and MacDonald ME.
  TITLE     Huntingtin's WW domain partners in Huntington's disease post-mortem
            brain fulfill genetic criteria for direct involvement in
            Huntington's disease pathogenesis
  JOURNAL   Hum Mol Genet 9 (14), 2175-2182 (2000)
   PUBMED   10958656
REFERENCE   6  (residues 1 to 893)
  AUTHORS   Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF and MacDonald
            ME.
  TITLE     Huntingtin interacts with a family of WW domain proteins
  JOURNAL   Hum Mol Genet 7 (9), 1463-1474 (1998)
   PUBMED   9700202
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020612.40.
            On Mar 18, 2020 this sequence version replaced NP_001350536.1.
            
            Summary: This gene encodes a WW-domain containing protein similar
            to yeast splicing factor PRP40. This protein has been shown to
            interact with Huntingtin and methyl CpG binding protein 2 (MeCP2).
            Alternative splicing results in different transcript variants.
            [provided by RefSeq, Aug 2014].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853565.6815.1,
                                           SRR11853560.6803.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..893
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     Protein         1..893
                     /product="pre-mRNA-processing factor 40 homolog B isoform
                     3"
                     /note="Huntingtin interacting protein C; huntingtin yeast
                     partner C; PRP40 pre-mRNA processing factor 40 homolog B"
                     /calculated_mol_wt=101349
     Region          111..>603
                     /region_name="PRP40"
                     /note="Splicing factor [RNA processing and modification];
                     COG5104"
                     /db_xref="CDD:227435"
     Region          655..703
                     /region_name="FF"
                     /note="Contains two conserved F residues; smart00441"
                     /db_xref="CDD:128718"
     CDS             1..893
                     /gene="PRPF40B"
                     /gene_synonym="HYPC"
                     /coded_by="NM_001363607.2:31..2712"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS86298.2"
                     /db_xref="GeneID:25766"
                     /db_xref="HGNC:HGNC:25031"
ORIGIN      
        1 msvpdsgprp paapapfppg ppmmpppfmp ppgipppfpp mglppmsqrp paippmppgi
       61 lppmlppmga pppltqipgm vppmmpgmlm pavpvtaata pgadtassav agtgppralw
      121 sehvapdgri yyynaddkqs vwekpsvlks kaelllsqcp wkeyksdtgk pyyynnqske
      181 srwtrpkdld dlevlvkqea agkqqqqlpq tlqpqppqpq pdpppvppgp tpvptgllep
      241 epggsedcdv leatqpleqg flqqleegps ssgqhqpqqe eeeskpeper sglswsnrek
      301 akqafkellr dkavpsnasw eqamkmvvtd prysalpkls ekkqafnayk aqrekeekee
      361 arlrakeakq tlqhfleqhe rmtsttryrr aeqtfgelev wavvperdrk evyddvlffl
      421 akkekeqakq lrrrniqalk sildgmssvn fqttwsqaqq ylmdnpsfaq dhqlqnmdke
      481 dalicfeehi ralereeeee rerarlrerr qqrknreafq tfldelhetg qlhsmstwme
      541 lypavstdvr fanmlgqpgs tpldlfkfyv eelkarfhde kkiikdilkd rgfcvevnta
      601 fedfahvisf dkraaaldag nikltfnsll ekaearerer ekeearrmrr reaafrsmlr
      661 qavpalelgt aweevrerfv cdsafeqitl eserirlfre flqvleqtec qhlhtkgrkh
      721 grkgkkhhhk rshspsgses eeeelpppsl rppkrrrrnp sesgsepsss ldsvesggaa
      781 lggrgspssh llgadhglrk akkpkkktkk rrhksnspes etdpeekagk esdekeqeqd
      841 kdrelqqael pnrspgfgik kektgwdtse selsegeler rrrtllqqld dhq
//
LOCUS       NP_001274437             138 aa            linear   PRI 30-DEC-2022
DEFINITION  phosphopantothenate--cysteine ligase isoform b [Homo sapiens].
ACCESSION   NP_001274437 XP_005271259
VERSION     NP_001274437.1
DBSOURCE    REFSEQ: accession NM_001287508.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 138)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 138)
  AUTHORS   Iuso A, Wiersma M, Schuller HJ, Pode-Shakked B, Marek-Yagel D,
            Grigat M, Schwarzmayr T, Berutti R, Alhaddad B, Kanon B, Grzeschik
            NA, Okun JG, Perles Z, Salem Y, Barel O, Vardi A, Rubinshtein M,
            Tirosh T, Dubnov-Raz G, Messias AC, Terrile C, Barshack I, Volkov
            A, Avivi C, Eyal E, Mastantuono E, Kumbar M, Abudi S, Braunisch M,
            Strom TM, Meitinger T, Hoffmann GF, Prokisch H, Haack TB, Brundel
            BJJM, Haas D, Sibon OCM and Anikster Y.
  TITLE     Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase,
            Cause Autosomal-Recessive Dilated Cardiomyopathy
  JOURNAL   Am J Hum Genet 102 (6), 1018-1030 (2018)
   PUBMED   29754768
  REMARK    GeneRIF: Exome sequencing in five individuals from two unrelated
            families presenting with dilated cardiomyopathy revealed biallelic
            mutations in PPCS.
REFERENCE   3  (residues 1 to 138)
  AUTHORS   Yao J and Dotson GD.
  TITLE     Kinetic characterization of human phosphopantothenoylcysteine
            synthetase
  JOURNAL   Biochim Biophys Acta 1794 (12), 1743-1750 (2009)
   PUBMED   19683078
  REMARK    GeneRIF: Oxygen transfer studies found that 18O from [carboxyl-18O]
            phosphopantothenate is incorporated into AMP or CMP produced during
            PPCS catalysis, consistent with the formation of a
            phosphopantothenoyl cytidylate or phosphopantothenoyl adenylate
            intermediate
REFERENCE   4  (residues 1 to 138)
  AUTHORS   Tsuritani K, Irie T, Yamashita R, Sakakibara Y, Wakaguri H, Kanai
            A, Mizushima-Sugano J, Sugano S, Nakai K and Suzuki Y.
  TITLE     Distinct class of putative 'non-conserved' promoters in humans:
            comparative studies of alternative promoters of human and mouse
            genes
  JOURNAL   Genome Res 17 (7), 1005-1014 (2007)
   PUBMED   17567985
REFERENCE   5  (residues 1 to 138)
  AUTHORS   Manoj N, Strauss E, Begley TP and Ealick SE.
  TITLE     Structure of human phosphopantothenoylcysteine synthetase at 2.3 A
            resolution
  JOURNAL   Structure 11 (8), 927-936 (2003)
   PUBMED   12906824
REFERENCE   6  (residues 1 to 138)
  AUTHORS   Daugherty M, Polanuyer B, Farrell M, Scholle M, Lykidis A, de
            Crecy-Lagard V and Osterman A.
  TITLE     Complete reconstitution of the human coenzyme A biosynthetic
            pathway via comparative genomics
  JOURNAL   J Biol Chem 277 (24), 21431-21439 (2002)
   PUBMED   11923312
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB479832.1 and AL445669.9.
            On Dec 17, 2013 this sequence version replaced XP_005271259.1.
            
            Summary: Biosynthesis of coenzyme A (CoA) from pantothenic acid
            (vitamin B5) is an essential universal pathway in prokaryotes and
            eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this
            pathway, converts phosphopantothenate to
            phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed
            11923312]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (5) uses an alternate splice
            junction at the 3' end of the first exon compared to variant 1. The
            resulting isoform (b) is shorter at the N-terminus compared to
            isoform a. Variants 2, 3, 5, 6, and 7 all encode the same isoform
            (b).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.26963.1, HY015176.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..138
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     Protein         1..138
                     /product="phosphopantothenate--cysteine ligase isoform b"
                     /EC_number="6.3.2.51"
                     /note="phosphopantothenate--cysteine ligase; PPC
                     synthetase"
                     /calculated_mol_wt=15514
     Region          <5..129
                     /region_name="PRK05579"
                     /note="bifunctional phosphopantothenoylcysteine
                     decarboxylase/phosphopantothenate synthase; Validated"
                     /db_xref="CDD:235513"
     CDS             1..138
                     /gene="PPCS"
                     /gene_synonym="CMD2C"
                     /coded_by="NM_001287508.2:194..610"
                     /note="isoform b is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS41312.1"
                     /db_xref="GeneID:79717"
                     /db_xref="HGNC:HGNC:25686"
                     /db_xref="MIM:609853"
ORIGIN      
        1 mfylaaavsd fyvpvsempe hkiqssggpl qitmkmvpkl lsplvkdwap kafiisfkle
       61 tdpaivinra rkaleiyqhq vvvanilesr qsfvfivtkd setklllsee eiekgveiee
      121 kivdnlqsrh tafigdrn
//
LOCUS       NP_001373818             354 aa            linear   PRI 30-DEC-2022
DEFINITION  muscleblind-like protein 3 isoform 1 [Homo sapiens].
ACCESSION   NP_001373818 XP_005262491
VERSION     NP_001373818.1
DBSOURCE    REFSEQ: accession NM_001386889.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 354)
  AUTHORS   Oladimeji PO, Bakke J, Wright WC and Chen T.
  TITLE     KANSL2 and MBNL3 are regulators of pancreatic ductal adenocarcinoma
            invasion
  JOURNAL   Sci Rep 10 (1), 1485 (2020)
   PUBMED   32001790
  REMARK    GeneRIF: KANSL2 and MBNL3 are regulators of pancreatic ductal
            adenocarcinoma invasion.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 354)
  AUTHORS   Yuan JH, Liu XN, Wang TT, Pan W, Tao QF, Zhou WP, Wang F and Sun
            SH.
  TITLE     The MBNL3 splicing factor promotes hepatocellular carcinoma by
            increasing PXN expression through the alternative splicing of
            lncRNA-PXN-AS1
  JOURNAL   Nat Cell Biol 19 (7), 820-832 (2017)
   PUBMED   28553938
  REMARK    GeneRIF: The MBNL3 splicing factor promotes hepatocellular
            carcinoma by increasing pacillin expression through the alternative
            splicing of lncRNA-PXN-AS1.
REFERENCE   3  (residues 1 to 354)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   4  (residues 1 to 354)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   5  (residues 1 to 354)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   6  (residues 1 to 354)
  AUTHORS   Self JE, Ennis S, Collins A, Shawkat F, Harris CM, Mackey DA,
            Hodgkins PR, Temple IK, Chen X and Lotery AJ.
  TITLE     Fine mapping of the X-linked recessive congenital idiopathic
            nystagmus locus at Xq24-q26.3
  JOURNAL   Mol Vis 12, 1211-1216 (2006)
   PUBMED   17102799
  REMARK    GeneRIF: We exclude MBNL3 as the causative gene in this family.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 354)
  AUTHORS   Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS and Cooper TA.
  TITLE     Muscleblind proteins regulate alternative splicing
  JOURNAL   EMBO J 23 (15), 3103-3112 (2004)
   PUBMED   15257297
  REMARK    GeneRIF: MBNL proteins promote opposite splicing patterns for
            cardiac troponin T and insulin receptor alternative exons
REFERENCE   8  (residues 1 to 354)
  AUTHORS   Squillace RM, Chenault DM and Wang EH.
  TITLE     Inhibition of muscle differentiation by the novel
            muscleblind-related protein CHCR
  JOURNAL   Dev Biol 250 (1), 218-230 (2002)
   PUBMED   12297108
  REMARK    GeneRIF: results suggest that CHCR is an inhibitor of myogenesis
REFERENCE   9  (residues 1 to 354)
  AUTHORS   Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS
            and Brook JD.
  TITLE     Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with
            nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
  JOURNAL   Hum Mol Genet 11 (7), 805-814 (2002)
   PUBMED   11929853
REFERENCE   10 (residues 1 to 354)
  AUTHORS   Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ,
            Thornton CA and Swanson MS.
  TITLE     Recruitment of human muscleblind proteins to (CUG)(n) expansions
            associated with myotonic dystrophy
  JOURNAL   EMBO J 19 (17), 4439-4448 (2000)
   PUBMED   10970838
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161442.22 and AL050310.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 15, 2020 this sequence version replaced XP_005262491.1.
            
            Summary: This gene encodes a member of the muscleblind-like family
            of proteins. The encoded protein may function in regulation of
            alternative splicing and may play a role in the pathophysiology of
            myotonic dystrophy. Alternatively spliced transcript variants have
            been described. [provided by RefSeq, Dec 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2531330.1,
                                           SRR14038191.4303734.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370853.8/ ENSP00000359890.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.2"
     Protein         1..354
                     /product="muscleblind-like protein 3 isoform 1"
                     /note="muscleblind-like protein 3; Cys3His CCG1-required
                     protein; muscleblind-like X-linked protein;
                     muscleblind-like 3"
                     /calculated_mol_wt=38401
     Region          18..41
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     Region          174..200
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     CDS             1..354
                     /gene="MBNL3"
                     /gene_synonym="CHCR; MBLX; MBLX39; MBXL"
                     /coded_by="NM_001386889.1:892..1956"
                     /note="isoform 1 is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS14633.1"
                     /db_xref="GeneID:55796"
                     /db_xref="HGNC:HGNC:20564"
                     /db_xref="MIM:300413"
ORIGIN      
        1 mtavnvalir dtkwltlevc refqrgtcsr adadckfahp prvchvengr vvacfdslkg
       61 rctrenckyl hppphlktql eingrnnliq qktaaamfaq qmqlmlqnaq msslgsfpmt
      121 psipanppma fnpyiphpgm glvpaelvpn tpvlipgnpp lampgavgpk lmrsdklevc
      181 refqrgnctr gendcryahp tdasmieasd ntvticmdyi kgrcsrekck yfhppahlqa
      241 rlkaahhqmn hsaasamalq pgtlqlipkr salekpngat pvfnptvfhc qqaltnlqlp
      301 qpafipagpi lcmapasniv pmmhgatptt vsaattpats vpfaapttgn qlkf
//
LOCUS       NP_001243056             335 aa            linear   PRI 30-DEC-2022
DEFINITION  5-methylcytosine rRNA methyltransferase NSUN4 isoform b [Homo
            sapiens].
ACCESSION   NP_001243056
VERSION     NP_001243056.1
DBSOURCE    REFSEQ: accession NM_001256127.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 335)
  AUTHORS   Cui,M., Qu,F., Wang,L., Liu,X., Yu,J., Tang,Z. and Cheng,D.
  TITLE     m5C RNA methyltransferase-related gene NSUN4 stimulates malignant
            progression of hepatocellular carcinoma and can be a prognostic
            marker
  JOURNAL   Cancer Biomark 33 (3), 389-400 (2022)
   PUBMED   34744073
  REMARK    GeneRIF: m5C RNA methyltransferase-related gene NSUN4 stimulates
            malignant progression of hepatocellular carcinoma and can be a
            prognostic marker.
REFERENCE   2  (residues 1 to 335)
  AUTHORS   Coppieters N, Dieriks BV, Lill C, Faull RL, Curtis MA and Dragunow
            M.
  TITLE     Global changes in DNA methylation and hydroxymethylation in
            Alzheimer's disease human brain
  JOURNAL   Neurobiol Aging 35 (6), 1334-1344 (2014)
   PUBMED   24387984
  REMARK    GeneRIF: It involves in epigenetic changes during the progression
            of Alzheimer disease pathology.
REFERENCE   3  (residues 1 to 335)
  AUTHORS   Metodiev MD, Spahr H, Loguercio Polosa P, Meharg C, Becker C,
            Altmueller J, Habermann B, Larsson NG and Ruzzenente B.
  TITLE     NSUN4 is a dual function mitochondrial protein required for both
            methylation of 12S rRNA and coordination of mitoribosomal assembly
  JOURNAL   PLoS Genet 10 (2), e1004110 (2014)
   PUBMED   24516400
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 335)
  AUTHORS   Yakubovskaya E, Guja KE, Mejia E, Castano S, Hambardjieva E, Choi
            WS and Garcia-Diaz M.
  TITLE     Structure of the essential MTERF4:NSUN4 protein complex reveals how
            an MTERF protein collaborates to facilitate rRNA modification
  JOURNAL   Structure 20 (11), 1940-1947 (2012)
   PUBMED   23022348
REFERENCE   5  (residues 1 to 335)
  AUTHORS   Spahr H, Habermann B, Gustafsson CM, Larsson NG and Hallberg BM.
  TITLE     Structure of the human MTERF4-NSUN4 protein complex that regulates
            mitochondrial ribosome biogenesis
  JOURNAL   Proc Natl Acad Sci U S A 109 (38), 15253-15258 (2012)
   PUBMED   22949673
  REMARK    GeneRIF: analysis of the 3D crystal structure of the human
            MTERF4-NSUN4 complex
REFERENCE   6  (residues 1 to 335)
  AUTHORS   Camara Y, Asin-Cayuela J, Park CB, Metodiev MD, Shi Y, Ruzzenente
            B, Kukat C, Habermann B, Wibom R, Hultenby K, Franz T,
            Erdjument-Bromage H, Tempst P, Hallberg BM, Gustafsson CM and
            Larsson NG.
  TITLE     MTERF4 regulates translation by targeting the methyltransferase
            NSUN4 to the mammalian mitochondrial ribosome
  JOURNAL   Cell Metab 13 (5), 527-539 (2011)
   PUBMED   21531335
REFERENCE   7  (residues 1 to 335)
  AUTHORS   Gratacos M, Costas J, de Cid R, Bayes M, Gonzalez JR, Baca-Garcia
            E, de Diego Y, Fernandez-Aranda F, Fernandez-Piqueras J, Guitart M,
            Martin-Santos R, Martorell L, Menchon JM, Roca M, Saiz-Ruiz J,
            Sanjuan J, Torrens M, Urretavizcaya M, Valero J, Vilella E,
            Estivill X and Carracedo A.
  CONSRTM   Psychiatric Genetics Network Group
  TITLE     Identification of new putative susceptibility genes for several
            psychiatric disorders by association analysis of regulatory and
            non-synonymous SNPs of 306 genes involved in neurotransmission and
            neurodevelopment
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 150B (6), 808-816 (2009)
   PUBMED   19086053
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL122001.32.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK057420.1, SRR1803617.140714.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..335
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p33"
     Protein         1..335
                     /product="5-methylcytosine rRNA methyltransferase NSUN4
                     isoform b"
                     /note="putative methyltransferase NSUN4; NOL1/NOP2/Sun
                     domain family member 4; sperm head and tail associated
                     protein; 5-methylcytosine rRNA methyltransferase NSUN4;
                     NOP2/Sun RNA methyltransferase family member 4; NOP2/Sun
                     domain family, member 4; 5-methylcytosine tRNA
                     methyltransferase NSUN4"
                     /calculated_mol_wt=37243
     Region          <106..333
                     /region_name="RsmB"
                     /note="16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF
                     family [Translation, ribosomal structure and biogenesis];
                     COG0144"
                     /db_xref="CDD:223222"
     CDS             1..335
                     /gene="NSUN4"
                     /gene_synonym="SHTAP"
                     /coded_by="NM_001256127.3:743..1750"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS57996.1"
                     /db_xref="GeneID:387338"
                     /db_xref="HGNC:HGNC:31802"
                     /db_xref="MIM:615394"
ORIGIN      
        1 mtysvqfgdl wpsirvslls eqkygalvnn faawdhvsak leqlsakdfv neaishwelq
       61 seggqsaaps paswacspnl rcftfdrgdi srfpparpgs lgvmeyylmd aasllpvlal
      121 glqpgdivld lcaapggktl allqtgccrn laandlspsr iarlqkilhs yvpeeirdgn
      181 qvrvtswdgr kwgelegdty drvlvdvpct tdrhslheee nnifkrsrkk erqilpvlqv
      241 qllaagllat kpgghvvyst cslshlqney vvqgaiella nqysiqvqve dlthfrrvfm
      301 dtfcffsscq vgelvipnlm anfgpmyfck mrrlt
//
LOCUS       NP_009121               1000 aa            linear   PRI 31-DEC-2022
DEFINITION  SEC23-interacting protein isoform 1 [Homo sapiens].
ACCESSION   NP_009121
VERSION     NP_009121.1
DBSOURCE    REFSEQ: accession NM_007190.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1000)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 1000)
  AUTHORS   Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C,
            Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T,
            Cousminer DL, Feenstra B, Franceschini N, Ganna A, Johnson AD,
            Kjellqvist S, Lunetta KL, McMahon G, Nolte IM, Paternoster L, Porcu
            E, Smith AV, Stolk L, Teumer A, Tsernikova N, Tikkanen E, Ulivi S,
            Wagner EK, Amin N, Bierut LJ, Byrne EM, Hottenga JJ, Koller DL,
            Mangino M, Pers TH, Yerges-Armstrong LM, Zhao JH, Andrulis IL,
            Anton-Culver H, Atsma F, Bandinelli S, Beckmann MW, Benitez J,
            Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H,
            Buring JE, Chang-Claude J, Chanock S, Chen J, Chenevix-Trench G,
            Collee JM, Couch FJ, Couper D, Coveillo AD, Cox A, Czene K, D'adamo
            AP, Smith GD, De Vivo I, Demerath EW, Dennis J, Devilee P,
            Dieffenbach AK, Dunning AM, Eiriksdottir G, Eriksson JG, Fasching
            PA, Ferrucci L, Flesch-Janys D, Flyger H, Foroud T, Franke L,
            Garcia ME, Garcia-Closas M, Geller F, de Geus EE, Giles GG,
            Gudbjartsson DF, Gudnason V, Guenel P, Guo S, Hall P, Hamann U,
            Haring R, Hartman CA, Heath AC, Hofman A, Hooning MJ, Hopper JL, Hu
            FB, Hunter DJ, Karasik D, Kiel DP, Knight JA, Kosma VM, Kutalik Z,
            Lai S, Lambrechts D, Lindblom A, Magi R, Magnusson PK, Mannermaa A,
            Martin NG, Masson G, McArdle PF, McArdle WL, Melbye M, Michailidou
            K, Mihailov E, Milani L, Milne RL, Nevanlinna H, Neven P, Nohr EA,
            Oldehinkel AJ, Oostra BA, Palotie A, Peacock M, Pedersen NL,
            Peterlongo P, Peto J, Pharoah PD, Postma DS, Pouta A, Pylkas K,
            Radice P, Ring S, Rivadeneira F, Robino A, Rose LM, Rudolph A,
            Salomaa V, Sanna S, Schlessinger D, Schmidt MK, Southey MC, Sovio
            U, Stampfer MJ, Stockl D, Storniolo AM, Timpson NJ, Tyrer J, Visser
            JA, Vollenweider P, Volzke H, Waeber G, Waldenberger M,
            Wallaschofski H, Wang Q, Willemsen G, Winqvist R, Wolffenbuttel BH,
            Wright MJ, Boomsma DI, Econs MJ, Khaw KT, Loos RJ, McCarthy MI,
            Montgomery GW, Rice JP, Streeten EA, Thorsteinsdottir U, van Duijn
            CM, Alizadeh BZ, Bergmann S, Boerwinkle E, Boyd HA, Crisponi L,
            Gasparini P, Gieger C, Harris TB, Ingelsson E, Jarvelin MR, Kraft
            P, Lawlor D, Metspalu A, Pennell CE, Ridker PM, Snieder H, Sorensen
            TI, Spector TD, Strachan DP, Uitterlinden AG, Wareham NJ, Widen E,
            Zygmunt M, Murray A, Easton DF, Stefansson K, Murabito JM and Ong
            KK.
  CONSRTM   Australian Ovarian Cancer Study; GENICA Network; kConFab; LifeLines
            Cohort Study; InterAct Consortium; Early Growth Genetics (EGG)
            Consortium
  TITLE     Parent-of-origin-specific allelic associations among 106 genomic
            loci for age at menarche
  JOURNAL   Nature 514 (7520), 92-97 (2014)
   PUBMED   25231870
REFERENCE   3  (residues 1 to 1000)
  AUTHORS   Klinkenberg D, Long KR, Shome K, Watkins SC and Aridor M.
  TITLE     A cascade of ER exit site assembly that is regulated by p125A and
            lipid signals
  JOURNAL   J Cell Sci 127 (Pt 8), 1765-1778 (2014)
   PUBMED   24522181
  REMARK    GeneRIF: A basic cluster and a hydrophobic interface in the DDHD
            and SAM domains, respectively, are required for p125A-mediated
            functional endoplasmic reticulum exit site assembly.
REFERENCE   4  (residues 1 to 1000)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   5  (residues 1 to 1000)
  AUTHORS   Ong YS, Tang BL, Loo LS and Hong W.
  TITLE     p125A exists as part of the mammalian Sec13/Sec31 COPII subcomplex
            to facilitate ER-Golgi transport
  JOURNAL   J Cell Biol 190 (3), 331-345 (2010)
   PUBMED   20679433
  REMARK    GeneRIF: The results suggest that p125A is part of the Sec13/Sec31A
            subcomplex and facilitates ER export in mammalian cells.
REFERENCE   6  (residues 1 to 1000)
  AUTHORS   McGary KL, Park TJ, Woods JO, Cha HJ, Wallingford JB and Marcotte
            EM.
  TITLE     Systematic discovery of nonobvious human disease models through
            orthologous phenotypes
  JOURNAL   Proc Natl Acad Sci U S A 107 (14), 6544-6549 (2010)
   PUBMED   20308572
  REMARK    GeneRIF: Xenopus sec23ip is required for normal neural crest cell
            development, suggesting a role for the human ortholog in
            Waardenburg syndrome neural crest defects.
REFERENCE   7  (residues 1 to 1000)
  AUTHORS   Iinuma T, Shiga A, Nakamoto K, O'Brien MB, Aridor M, Arimitsu N,
            Tagaya M and Tani K.
  TITLE     Mammalian Sec16/p250 plays a role in membrane traffic from the
            endoplasmic reticulum
  JOURNAL   J Biol Chem 282 (24), 17632-17639 (2007)
   PUBMED   17428803
REFERENCE   8  (residues 1 to 1000)
  AUTHORS   Shimoi W, Ezawa I, Nakamoto K, Uesaki S, Gabreski G, Aridor M,
            Yamamoto A, Nagahama M, Tagaya M and Tani K.
  TITLE     p125 is localized in endoplasmic reticulum exit sites and involved
            in their organization
  JOURNAL   J Biol Chem 280 (11), 10141-10148 (2005)
   PUBMED   15623529
  REMARK    GeneRIF: p125 is a mammalian-specific component of ER exit sites
            and participates in the organization of this compartment
REFERENCE   9  (residues 1 to 1000)
  AUTHORS   Mizoguchi T, Nakajima K, Hatsuzawa K, Nagahama M, Hauri HP, Tagaya
            M and Tani K.
  TITLE     Determination of functional regions of p125, a novel mammalian
            Sec23p-interacting protein
  JOURNAL   Biochem Biophys Res Commun 279 (1), 144-149 (2000)
   PUBMED   11112430
REFERENCE   10 (residues 1 to 1000)
  AUTHORS   Tani K, Mizoguchi T, Iwamatsu A, Hatsuzawa K and Tagaya M.
  TITLE     p125 is a novel mammalian Sec23p-interacting protein with
            structural similarity to phospholipid-modifying proteins
  JOURNAL   J Biol Chem 274 (29), 20505-20512 (1999)
   PUBMED   10400679
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB019435.1, BC063800.1,
            AC027672.12 and AI093198.1.
            
            Summary: This gene encodes a member of the phosphatidic acid
            preferring-phospholipase A1 family. The encoded protein is
            localized to endoplasmic reticulum exit sites and plays a critical
            role in ER-Golgi transport as part of the multimeric coat protein
            II complex. An orthologous gene in frogs is required for normal
            neural crest cell development, suggesting that this gene may play a
            role in Waardenburg syndrome neural crest defects. Alternatively
            spliced transcript variants have been observed for this gene.
            [provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes a functional protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK001135.1, SRR1803617.69614.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369075.8/ ENSP00000358071.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1000
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.11-q26.12"
     Protein         1..1000
                     /product="SEC23-interacting protein isoform 1"
                     /note="intracellular phospholipase A1 beta"
                     /calculated_mol_wt=110946
     Region          1..367
                     /region_name="Interaction with SEC23A.
                     /evidence=ECO:0000269|PubMed:10400679"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6Y8.1)"
     Region          <43..>310
                     /region_name="PRK10263"
                     /note="DNA translocase FtsK; Provisional"
                     /db_xref="CDD:236669"
     Region          133..252
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6Y8.1)"
     Region          638..702
                     /region_name="SAM_sec23ip"
                     /note="SAM domain of sec23ip; cd09584"
                     /db_xref="CDD:188983"
     Region          716..748
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6Y8.1)"
     Site            737
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6NZC7; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6Y8.1)"
     Region          782..988
                     /region_name="DDHD"
                     /note="DDHD domain; pfam02862"
                     /db_xref="CDD:427021"
     Site            926
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6Y8.1)"
     CDS             1..1000
                     /gene="SEC23IP"
                     /gene_synonym="iPLA1A; iPLA1beta; MSTP053; P125; P125A"
                     /coded_by="NM_007190.4:54..3056"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7618.1"
                     /db_xref="GeneID:11196"
                     /db_xref="HGNC:HGNC:17018"
                     /db_xref="MIM:617852"
ORIGIN      
        1 maerkpnggs ggastsssgt nllfsssate fsfnvpfipv tqasaspasl llpgedstdv
       61 geedsflgqt sihtsapqtf syfsqvssss dpfgnigqsp lttaatsvgq sgfpkpltal
      121 pfttgsqdvs nafspsiska qpgappsslm ginsylpsqp sslppsyfgn qpqgipqpgy
      181 npyrhtpgss ranpyiappq lqqcqtpgpp ahpppsgppv qmyqmppgsl ppvpssvqsp
      241 aqqqvparpg apsvqvpspf llqnqyepvq phwfyckeve ykqlwmpfsv fdslnleeiy
      301 nsvqpdpesv vlgtdggryd vylydrirka ayweeepaev rrctwfykgd tdsrfipyte
      361 efsekleaey kkavttnqwh rrlefpsget ivmhnpkviv qfqpssvpde wgttqdgqtr
      421 prvvkrgidd nldeipdgem pqvdhlvfvv hgigpvcdlr frsiiecvdd frvvslkllr
      481 thfkkslddg kvsrveflpv hwhsslggda tgvdrnikki tlpsigrfrh ftnetlldil
      541 fynsptycqt ivekvgmein hlhalfmsrn pdfkggvsva ghslgslilf dilsnqkdln
      601 lskcpgplav angvvkqlhf qekqmpeepk ltldesydlv venkevltlq etlealslse
      661 yfstfekeki dmesllmctv ddlkemgipl gprkkianfv ehkaaklkka asekkavaat
      721 stkgqeqsaq ktkdmaslps esnepkrklp vgacvssvcv nyesfevgag qvsvaynsld
      781 fepeiffalg spiamfltir gvdridenys lptckgffni yhpldpvayr lepmivpdld
      841 lkavliphhk grkrlhlelk eslsrmgsdl kqgfisslks awqtlnefar ahtsstqlqe
      901 elekvanqik eeeekqvvea ekvvespdfs kdedylgkvg mlnggrridy vlqekpiesf
      961 neylfalqsh lcywesedta llllkeiyrt mnispeqpqh
//
LOCUS       NP_036359                516 aa            linear   PRI 31-DEC-2022
DEFINITION  putative GTP-binding protein 6 [Homo sapiens].
ACCESSION   NP_036359 XP_001124673
VERSION     NP_036359.3
DBSOURCE    REFSEQ: accession NM_012227.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 516)
  AUTHORS   Hillen HS, Lavdovskaia E, Nadler F, Hanitsch E, Linden A, Bohnsack
            KE, Urlaub H and Richter-Dennerlein R.
  TITLE     Structural basis of GTPase-mediated mitochondrial ribosome
            biogenesis and recycling
  JOURNAL   Nat Commun 12 (1), 3672 (2021)
   PUBMED   34135319
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 516)
  AUTHORS   Lavdovskaia E, Denks K, Nadler F, Steube E, Linden A, Urlaub H,
            Rodnina MV and Richter-Dennerlein R.
  TITLE     Dual function of GTPBP6 in biogenesis and recycling of human
            mitochondrial ribosomes
  JOURNAL   Nucleic Acids Res 48 (22), 12929-12942 (2020)
   PUBMED   33264405
  REMARK    GeneRIF: Dual function of GTPBP6 in biogenesis and recycling of
            human mitochondrial ribosomes.
REFERENCE   3  (residues 1 to 516)
  AUTHORS   Vawter MP, Harvey PD and DeLisi LE.
  TITLE     Dysregulation of X-linked gene expression in Klinefelter's syndrome
            and association with verbal cognition
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 144B (6), 728-734 (2007)
   PUBMED   17347996
REFERENCE   4  (residues 1 to 516)
  AUTHORS   Gianfrancesco F, Sanges R, Esposito T, Tempesta S, Rao E, Rappold
            G, Archidiacono N, Graves JA, Forabosco A and D'Urso M.
  TITLE     Differential divergence of three human pseudoautosomal genes and
            their mouse homologs: implications for sex chromosome evolution
  JOURNAL   Genome Res 11 (12), 2095-2100 (2001)
   PUBMED   11731500
REFERENCE   5  (residues 1 to 516)
  AUTHORS   Gianfrancesco F, Esposito T, Montanini L, Ciccodicola A, Mumm S,
            Mazzarella R, Rao E, Giglio S, Rappold G and Forabosco A.
  TITLE     A novel pseudoautosomal gene encoding a putative GTP-binding
            protein resides in the vicinity of the Xp/Yp telomere
  JOURNAL   Hum Mol Genet 7 (3), 407-414 (1998)
   PUBMED   9466997
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from FO681518.2 and BX000483.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 3, 2014 this sequence version replaced NP_036359.2.
            
            Summary: This gene encodes a GTP binding protein and is located in
            the pseudoautosomal region (PAR) at the end of the short arms of
            the X and Y chromosomes. [provided by RefSeq, Nov 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK223412.1, SRR11853564.28556.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326153.10/ ENSP00000316598.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..516
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /chromosome="Y"
                     /map="X"
                     /map="Y"
     Protein         1..516
                     /product="putative GTP-binding protein 6"
                     /calculated_mol_wt=56767
     Region          18..82
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43824.4)"
     Region          116..513
                     /region_name="HflX"
                     /note="50S ribosomal subunit-associated GTPase HflX
                     [Translation, ribosomal structure and biogenesis];
                     COG2262"
                     /db_xref="CDD:225171"
     CDS             1..516
                     /gene="GTPBP6"
                     /gene_synonym="PGPL"
                     /coded_by="NM_012227.4:10..1560"
                     /db_xref="CCDS:CCDS75943.1"
                     /db_xref="GeneID:8225"
                     /db_xref="HGNC:HGNC:30189"
                     /db_xref="MIM:300124"
ORIGIN      
        1 mwalraavrp glrlsrvgrg rsapraaaps cparalaavg rrspgnlegp wgggrglrad
       61 ggrsrtgdde eepedadena eeellrgepl lpagtqrvcl vhpdvkwgpg ksqmtraewq
      121 vaeatalvht ldgwsvvqtm vvstktpdrk lifgkgnfeh ltekirgspd itcvflnver
      181 maaptkkele aawgvevfdr ftvvlhifrc nartkearlq valaemplhr snlkrdvahl
      241 yrgvgsryim gsgesfmqlq qrllrekeak irkaldrlrk krhllrrqrt rrefpvisvv
      301 gytncgkttl ikaltgdaai qprdqlfatl dvtahagtlp srmtvlyvdt igflsqlphg
      361 liesfsatle dvahsdlilh vrdvshpeae lqkcsvlstl rglqlpapll dsmvevhnkv
      421 dlvpgyspte pnvvpvsalr ghglqelkae ldaavlkatg rqiltlrvrl agaqlswlyk
      481 eatvqevdvi pedgaadvrv iisnsaygkf rklfpg
//
LOCUS       NP_001004492             317 aa            linear   PRI 31-DEC-2022
DEFINITION  olfactory receptor 2B11 [Homo sapiens].
ACCESSION   NP_001004492 XP_060580
VERSION     NP_001004492.1
DBSOURCE    REFSEQ: accession NM_001004492.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 317)
  AUTHORS   Guan W, Steffen BT, Lemaitre RN, Wu JHY, Tanaka T, Manichaikul A,
            Foy M, Rich SS, Wang L, Nettleton JA, Tang W, Gu X, Bandinelli S,
            King IB, McKnight B, Psaty BM, Siscovick D, Djousse L, Chen YI,
            Ferrucci L, Fornage M, Mozafarrian D, Tsai MY and Steffen LM.
  TITLE     Genome-wide association study of plasma N6 polyunsaturated fatty
            acids within the cohorts for heart and aging research in genomic
            epidemiology consortium
  JOURNAL   Circ Cardiovasc Genet 7 (3), 321-331 (2014)
   PUBMED   24823311
REFERENCE   2  (residues 1 to 317)
  AUTHORS   Villani AC, Lemire M, Fortin G, Louis E, Silverberg MS, Collette C,
            Baba N, Libioulle C, Belaiche J, Bitton A, Gaudet D, Cohen A,
            Langelier D, Fortin PR, Wither JE, Sarfati M, Rutgeerts P, Rioux
            JD, Vermeire S, Hudson TJ and Franchimont D.
  TITLE     Common variants in the NLRP3 region contribute to Crohn's disease
            susceptibility
  JOURNAL   Nat Genet 41 (1), 71-76 (2009)
   PUBMED   19098911
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL606804.11.
            On Sep 19, 2004 this sequence version replaced XP_060580.5.
            
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641149.2/ ENSP00000492892.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..317
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     Protein         1..317
                     /product="olfactory receptor 2B11"
                     /note="novel 7 transmembrane receptor (rhodopsin family)
                     protein"
                     /calculated_mol_wt=35211
     Site            5
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5JQS5.1)"
     Region          29..298
                     /region_name="7tmA_OR2B-like"
                     /note="olfactory receptor subfamily 2B and related
                     proteins, member of the class A family of
                     seven-transmembrane G protein-coupled receptors; cd15947"
                     /db_xref="CDD:320613"
     Region          30..56
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320613"
     Site            30..53
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQS5.1)"
     Site            62..83
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQS5.1)"
     Region          63..89
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320613"
     Site            order(85,88..89,101..106,108..109,112,157,159..163,199,
                     202..204,206..208,210..211,256,259..260,262..263,266,
                     272..273,275..277,280,283..284)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320613"
     Region          101..131
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320613"
     Site            105..124
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQS5.1)"
     Region          144..165
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320613"
     Site            144..162
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQS5.1)"
     Region          199..229
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320613"
     Site            199
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5JQS5.1)"
     Site            200..223
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQS5.1)"
     Region          236..266
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320613"
     Site            241..263
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQS5.1)"
     Region          273..298
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320613"
     Site            277..296
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQS5.1)"
     CDS             1..317
                     /gene="OR2B11"
                     /coded_by="NM_001004492.2:3549..4502"
                     /db_xref="CCDS:CCDS31090.1"
                     /db_xref="GeneID:127623"
                     /db_xref="HGNC:HGNC:31249"
ORIGIN      
        1 mksdnhsflg dspkafillg vsdrpwlelp lfvvlllsyv lamlgnvaii lasrvdpqlh
       61 spmyiflshl sfldlcyttt tvpqmlvnmg ssqktisygg ctvqyavfhw lgctecivla
      121 amaldryvai ckplhyavlm hralcqqlva lawlsgfgns fvqvvltvql pfcgrqvlnn
      181 ffcevpavik lscadtavnd tilavlvaff vlvplalill sygfiaravl riqsskgrhk
      241 afgtcsshlm ivslfylpai ymylqppssy sqeqgkfisl fysiitptln pftytlrnkd
      301 mkgalrrlla riwrlcg
//
LOCUS       NP_001392423             429 aa            linear   PRI 31-DEC-2022
DEFINITION  proline-rich transmembrane protein 4 isoform 2 precursor [Homo
            sapiens].
ACCESSION   NP_001392423 XP_047276326
VERSION     NP_001392423.1
DBSOURCE    REFSEQ: accession NM_001405494.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 429)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   2  (residues 1 to 429)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010655.7.
            On Apr 25, 2022 this sequence version replaced XP_047276326.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3376125.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2163105 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..429
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.1"
     Protein         1..429
                     /product="proline-rich transmembrane protein 4 isoform 2
                     precursor"
                     /calculated_mol_wt=42301
     sig_peptide     1..23
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2337
     Region          110..152
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (C9JH25.1)"
     Region          295..340
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (C9JH25.1)"
     CDS             1..429
                     /gene="PRRT4"
                     /coded_by="NM_001405494.1:320..1609"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 6"
                     /db_xref="CCDS:CCDS47698.2"
                     /db_xref="GeneID:401399"
                     /db_xref="HGNC:HGNC:37280"
ORIGIN      
        1 marhgclglg lfccvlfaat vgpqptpsip gapattltpv pqseasmlsl nlglnfkfhl
       61 rgpaavwgsp vtetqplslg pgqepgeeva sglrtdplwe llvgssgnsl tewgsteggs
      121 kprassllpe stsrrsgpsd gptapyqprr stvtwdtalm vtalpssapr phqselelkf
      181 dmalragaap tlghrtlpll pslraslaei agrlgpfgff gttlsplrnf sglsppgett
      241 stssasgvsg slgflgttls lppyslerkl sspspldpaa slsfasiatt sldptvpisg
      301 pddlsppasl gnpsgqpecg pgscsvgelp eregqppeap rplffltlea dwaeararwg
      361 laweahvygr lhrglppalp nqpatqhrgg plqrgpacaw plpgpclrgr sawartlphr
      421 lagdrgqgq
//
LOCUS       NP_001129471            1516 aa            linear   PRI 01-JAN-2023
DEFINITION  AP-4 complex accessory subunit RUSC2 isoform 1 [Homo sapiens].
ACCESSION   NP_001129471
VERSION     NP_001129471.2
DBSOURCE    REFSEQ: accession NM_001135999.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1516)
  AUTHORS   Guardia CM, Jain A, Mattera R, Friefeld A, Li Y and Bonifacino JS.
  TITLE     RUSC2 and WDR47 oppositely regulate kinesin-1-dependent
            distribution of ATG9A to the cell periphery
  JOURNAL   Mol Biol Cell 32 (21), ar25 (2021)
   PUBMED   34432492
  REMARK    GeneRIF: RUSC2 and WDR47 oppositely regulate kinesin-1-dependent
            distribution of ATG9A to the cell periphery.
REFERENCE   2  (residues 1 to 1516)
  AUTHORS   Sakurai S, Shimizu T and Ohto U.
  TITLE     Crystal structure of the FYCO1 RUN domain suggests possible
            interfaces with small GTPases
  JOURNAL   Acta Crystallogr F Struct Biol Commun 76 (Pt 8), 326-333 (2020)
   PUBMED   32744243
  REMARK    GeneRIF: Crystal structure of the FYCO1 RUN domain suggests
            possible interfaces with small GTPases.
REFERENCE   3  (residues 1 to 1516)
  AUTHORS   Tom EC, Mushtaq I, Mohapatra BC, Luan H, Bhat AM, Zutshi N,
            Chakraborty S, Islam N, Arya P, Bielecki TA, Iseka FM,
            Bhattacharyya S, Cypher LR, Goetz BT, Negi SK, Storck MD, Rana S,
            Barnekow A, Singh PK, Ying G, Guda C, Natarajan A, Band V and Band
            H.
  TITLE     EHD1 and RUSC2 Control Basal Epidermal Growth Factor Receptor Cell
            Surface Expression and Recycling
  JOURNAL   Mol Cell Biol 40 (7), e00434-19 (2020)
   PUBMED   31932478
  REMARK    GeneRIF: RUSC2 and EHD1 function in a common pathway to positively
            regulate the basal traffic of Epidermal growth factor receptor from
            the Golgi compartment to the cell surface to ensure optimal surface
            receptor levels for subsequent ligand-mediated activation and
            cellular responses.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1516)
  AUTHORS   Sun J, Zhang Z and Yang S.
  TITLE     Circ_RUSC2 upregulates the expression of miR-661 target gene SYK
            and regulates the function of vascular smooth muscle cells
  JOURNAL   Biochem Cell Biol 97 (6), 709-714 (2019)
   PUBMED   31199889
  REMARK    GeneRIF: Circ_RUSC2 upregulates the expression of miR-661 target
            gene SYK and regulates the function of vascular smooth muscle cells
REFERENCE   5  (residues 1 to 1516)
  AUTHORS   Lin L, Shi Y, Wang M, Wang C, Zhu J and Zhang R.
  TITLE     Rab35/ACAP2 and Rab35/RUSC2 Complex Structures Reveal Molecular
            Basis for Effector Recognition by Rab35 GTPase
  JOURNAL   Structure 27 (5), 729-740 (2019)
   PUBMED   30905672
  REMARK    GeneRIF: analysis of structural basis for effector recognition in
            Rab35/ACAP2 and Rab35/RUSC2 complexes
REFERENCE   6  (residues 1 to 1516)
  AUTHORS   Duan B, Cui J, Sun S, Zheng J, Zhang Y, Ye B, Chen Y, Deng W, Du J,
            Zhu Y, Chen Y and Gu L.
  TITLE     EGF-stimulated activation of Rab35 regulates RUSC2-GIT2 complex
            formation to stabilize GIT2 during directional lung cancer cell
            migration
  JOURNAL   Cancer Lett 379 (1), 70-83 (2016)
   PUBMED   27238570
  REMARK    GeneRIF: Short-term EGF stimulation if of lung tumor cells can
            increase the interaction between RUSC2 and GIT2, prolonged
            stimulation leads to a decrease of their interaction through
            activating Rab35.
REFERENCE   7  (residues 1 to 1516)
  AUTHORS   Sarhadi VK, Lahti L, Scheinin I, Ellonen P, Kettunen E, Serra M,
            Scotlandi K, Picci P and Knuutila S.
  TITLE     Copy number alterations and neoplasia-specific mutations in MELK,
            PDCD1LG2, TLN1, and PAX5 at 9p in different neoplasias
  JOURNAL   Genes Chromosomes Cancer 53 (7), 579-588 (2014)
   PUBMED   24664538
REFERENCE   8  (residues 1 to 1516)
  AUTHORS   Fukuda M, Kobayashi H, Ishibashi K and Ohbayashi N.
  TITLE     Genome-wide investigation of the Rab binding activity of RUN
            domains: development of a novel tool that specifically traps
            GTP-Rab35
  JOURNAL   Cell Struct Funct 36 (2), 155-170 (2011)
   PUBMED   21737958
REFERENCE   9  (residues 1 to 1516)
  AUTHORS   Bayer M, Fischer J, Kremerskothen J, Ossendorf E, Matanis T,
            Konczal M, Weide T and Barnekow A.
  TITLE     Identification and characterization of Iporin as a novel
            interaction partner for rab1
  JOURNAL   BMC Cell Biol 6 (1), 15 (2005)
   PUBMED   15796781
  REMARK    GeneRIF: conclude that Iporin might function as a link between the
            targeting of ER derived vesicles, triggered by the rab1 GTPase and
            a signaling pathway regulated by molecules containing SH3 and/or
            poly-proline regions
            Publication Status: Online-Only
REFERENCE   10 (residues 1 to 1516)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Characterization of RUSC1 and RUSC2 genes in silico
  JOURNAL   Oncol Rep 12 (4), 933-938 (2004)
   PUBMED   15375525
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133476.17.
            On Feb 24, 2022 this sequence version replaced NP_001129471.1.
            
            Summary: This gene encodes a RUN and SH3 domain containing protein
            that interacts with Rab1b and Rab1-binding protein GM130.
            Alternatively spliced transcript variants have been observed for
            this gene. [provided by RefSeq, Jun 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Both variants 1 and 2 encode the same protein (isoform
            1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC146654.1, SRR14038193.1580182.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1516
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     Protein         1..1516
                     /product="AP-4 complex accessory subunit RUSC2 isoform 1"
                     /note="interacting protein of Rab1; RUN and SH3
                     domain-containing protein 2; AP-4 complex accessory
                     subunit RUSC2"
                     /calculated_mol_wt=161095
     Region          33..105
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Region          202..224
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Region          229..248
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Region          331..351
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Region          404..445
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Region          478..511
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Region          <523..833
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            536
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Site            543
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Region          550..588
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Site            559
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Region          646..688
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Site            656
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Region          727..836
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Site            781
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Region          868..889
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Region          992..1151
                     /region_name="RUN_RUSC2"
                     /note="RUN domain found in RUN and SH3 domain-containing
                     protein 2 (RUSC2) and similar proteins; cd17702"
                     /db_xref="CDD:439064"
     Region          1210..1261
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Region          1286..1408
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Site            1368
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Site            1380
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Region          1422..1449
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N2Y8.3)"
     Region          1451..1501
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:450141"
     Site            order(1456,1458,1461,1465,1483..1484,1497,1499..1500)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212690"
     CDS             1..1516
                     /gene="RUSC2"
                     /gene_synonym="Iporin; MRT61"
                     /coded_by="NM_001135999.2:568..5118"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS35008.1"
                     /db_xref="GeneID:9853"
                     /db_xref="HGNC:HGNC:23625"
                     /db_xref="MIM:611053"
ORIGIN      
        1 mdsppkltge tlivhhiplv hcqvpdrqcc ggagggggst rpnpfcppel gitqpdqdlg
       61 qadsllfssl hstpggtars idstksrsrd grgpgapkrh npfllqegvg epglgdlydd
      121 sigdsatqqs fhlhgtgqpn fhlssfqlpp sgprvgrpwg ttrsragvve gqeqepvmtl
      181 dtqqcgtshc crpeleaetm eldecggpgg sgsgggasdt sgfsfdqewk lssdesprnp
      241 gcsgsgdqhc rcsstssqse aadqsmgyvs dsscnssdgv lvtfstlynk mhgtpranln
      301 sapqscsdss fcshsdpgaf yldlqpspfe skmsyeshhp esggreggyg cphasspeld
      361 ancnsyrphc epcpavadlt acfqsqarlv vatqnyyklv tcdlssqssp spagssitsc
      421 seehtkispp pgpgpdpgps qpseyylfqk pevqpeeqea vssstqaaaa vgptvlegqv
      481 ytntsppnls tgrqrsrsyd rslqrsppvr lgslermlsc pvrlsegpaa magpgspprr
      541 vtsfaelakg rkktggsgsp plrvsvgdss qefspiqeaq qdrgapldeg tccshslppm
      601 plgpgmdllg pdpsppwstq vcqgphssem ppaglratgq gplaqlmdpg palpgspans
      661 htqrdarara dgggtesrpv lryskeqrpt tlpiqpfvfq hhfpkqlaka ralhslsqly
      721 slsgcsrtqq paplaapaaq vsvpapsgep qastpratgr garkagsepe tsrpsplgsy
      781 spirsvgpfg pstdssasts cspppeqpta teslppwshs cpsavrpats qqpqkedqki
      841 ltlteyrlhg tgslpplgsw rsglsraesl argggegsma trpsnanhls pqalkwreyr
      901 rknplgppgl sgsldrrsqe arlarrnpif efpgslsaas hlncrlngqa vkplpltcpd
      961 fqdpfsltek ppaefclspd gsseaisidl lqkkglvkav niavdlivah fgtsrdpgvk
     1021 aklgnssvsp nvghlvlkyl cpavravled glkafvldvi igqrknmpws vveastqlgp
     1081 stkvlhglyn kvsqfpelts htmrfnafil gllnirslef wfnhlynhed iiqthyqpwg
     1141 flsaahtvcp glfeelllll qplallpfsl dllfqhrllq sgqqqrqhke llrvsqdlll
     1201 sahstlqlar argqegpgdv draaqgervk gvgaseggee eeeeeeteev aeaaggsgra
     1261 rwarggqagw wyqlmqssqv yidgsiegsr fprgssnsss ekkkgagggg ppqapppreg
     1321 vvegaeacpa seealgrerg wpfwmgsppd svlaelrrsr eregpaaspa eneegaseps
     1381 pggikwghlf gsrkaqrear ptnrlpsdwl sldksmfqlv aqtvgsrrep epkeslqeph
     1441 spalpssppc evqalchhla tgpgqlsfhk gdilrvlgra ggdwlrcsrg pdsglvplay
     1501 vtltptpspt pgssqn
//
LOCUS       NP_001398071             985 aa            linear   PRI 01-JAN-2023
DEFINITION  sodium/potassium/calcium exchanger 1 isoform 6 [Homo sapiens].
ACCESSION   NP_001398071 XP_006720831
VERSION     NP_001398071.1
DBSOURCE    REFSEQ: accession NM_001411142.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 985)
  AUTHORS   Carrigan M, Duignan E, Malone CP, Stephenson K, Saad T, McDermott
            C, Green A, Keegan D, Humphries P, Kenna PF and Farrar GJ.
  TITLE     Panel-Based Population Next-Generation Sequencing for Inherited
            Retinal Degenerations
  JOURNAL   Sci Rep 6, 33248 (2016)
   PUBMED   27624628
  REMARK    GeneRIF: We report the association of many previously unreported
            variants with retinal disease, as well as new disease phenotypes
            associated with known genes, including the first association of the
            SLC24A1 gene with retinitis pigmentosa
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 985)
  AUTHORS   Neuille M, Malaichamy S, Vadala M, Michiels C, Condroyer C,
            Sachidanandam R, Srilekha S, Arokiasamy T, Letexier M, Demontant V,
            Sahel JA, Sen P, Audo I, Soumittra N and Zeitz C.
  TITLE     Next-generation sequencing confirms the implication of SLC24A1 in
            autosomal-recessive congenital stationary night blindness
  JOURNAL   Clin Genet 89 (6), 690-699 (2016)
   PUBMED   26822852
  REMARK    GeneRIF: The index patient and his affected brother carry a
            homozygous single-nucleotide variants (SNVs) in sodium-calcium,
            potassium exchanger (SLC24A1) (c.2401G > T).
REFERENCE   3  (residues 1 to 985)
  AUTHORS   Jalloul AH, Szerencsei RT and Schnetkamp PP.
  TITLE     Cation dependencies and turnover rates of the human K-dependent
            Na-Ca(2) exchangers NCKX1, NCKX2, NCKX3 and NCKX4
  JOURNAL   Cell Calcium 59 (1), 1-11 (2016)
   PUBMED   26631410
REFERENCE   4  (residues 1 to 985)
  AUTHORS   Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali
            VR, Ponferrada VG, Audo I, Michiels C, Lancelot ME, Nasir IA, Zafar
            AU, Khan SN, Husnain T, Jiao X, MacDonald IM, Riazuddin S, Sieving
            PA, Katsanis N and Hejtmancik JF.
  TITLE     A mutation in SLC24A1 implicated in autosomal-recessive congenital
            stationary night blindness
  JOURNAL   Am J Hum Genet 87 (4), 523-531 (2010)
   PUBMED   20850105
  REMARK    GeneRIF: A mutation in SLC24A1 is implicated in autosomal-recessive
            congenital stationary night blindness.
REFERENCE   5  (residues 1 to 985)
  AUTHORS   Schnetkamp PP.
  TITLE     The SLC24 Na+/Ca2+-K+ exchanger family: vision and beyond
  JOURNAL   Pflugers Arch 447 (5), 683-688 (2004)
   PUBMED   14770312
  REMARK    Review article
REFERENCE   6  (residues 1 to 985)
  AUTHORS   Prinsen CF, Szerencsei RT and Schnetkamp PP.
  TITLE     Molecular cloning and functional expression of the
            potassium-dependent sodium-calcium exchanger from human and chicken
            retinal cone photoreceptors
  JOURNAL   J Neurosci 20 (4), 1424-1434 (2000)
   PUBMED   10662833
REFERENCE   7  (residues 1 to 985)
  AUTHORS   McKiernan CJ and Friedlander M.
  TITLE     The retinal rod Na(+)/Ca(2+),K(+) exchanger contains a noncleaved
            signal sequence required for translocation of the N terminus
  JOURNAL   J Biol Chem 274 (53), 38177-38182 (1999)
   PUBMED   10608890
REFERENCE   8  (residues 1 to 985)
  AUTHORS   Tucker JE, Winkfein RJ, Murthy SK, Friedman JS, Walter MA,
            Demetrick DJ and Schnetkamp PP.
  TITLE     Chromosomal localization and genomic organization of the human
            retinal rod Na-Ca+K exchanger
  JOURNAL   Hum Genet 103 (4), 411-414 (1998)
   PUBMED   9856482
REFERENCE   9  (residues 1 to 985)
  AUTHORS   Tucker JE, Winkfein RJ, Cooper CB and Schnetkamp PP.
  TITLE     cDNA cloning of the human retinal rod Na-Ca + K exchanger:
            comparison with a revised bovine sequence
  JOURNAL   Invest Ophthalmol Vis Sci 39 (2), 435-440 (1998)
   PUBMED   9478004
REFERENCE   10 (residues 1 to 985)
  AUTHORS   Schnetkamp PP.
  TITLE     How does the retinal rod Na-Ca+K exchanger regulate cytosolic free
            Ca2+?
  JOURNAL   J Biol Chem 270 (22), 13231-13239 (1995)
   PUBMED   7539424
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC027220.10 and AC011939.9.
            On Aug 22, 2022 this sequence version replaced XP_006720831.1.
            
            Summary: This gene encodes a member of the potassium-dependent
            sodium/calcium exchanger protein family. The encoded protein plays
            an important role in sodium/calcium exchange in retinal rod and
            cone photoreceptors by mediating the extrusion of one calcium ion
            and one potassium ion in exchange for four sodium ions. Mutations
            in this gene may play a role in congenital stationary night
            blindness. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, Dec 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1032176.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145245, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..985
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.31"
     Protein         1..985
                     /product="sodium/potassium/calcium exchanger 1 isoform 6"
                     /note="retinal rod Na+/Ca+/K+ exchanger;
                     Na(+)/K(+)/Ca(2+)-exchange protein 1; Na/Ca-K exchanger 1;
                     solute carrier family 24 (sodium/potassium/calcium
                     exchanger), member 1"
                     /calculated_mol_wt=108944
     Region          1..985
                     /region_name="2A1904"
                     /note="K+-dependent Na+/Ca+ exchanger; TIGR00927"
                     /db_xref="CDD:273344"
     CDS             1..985
                     /gene="SLC24A1"
                     /gene_synonym="CSNB1D; HsT17412; NCKX; NCKX1; RODX"
                     /coded_by="NM_001411142.1:1492..4449"
                     /note="isoform 6 is encoded by transcript variant 6"
                     /db_xref="CCDS:CCDS92023.1"
                     /db_xref="GeneID:9187"
                     /db_xref="HGNC:HGNC:10975"
                     /db_xref="MIM:603617"
ORIGIN      
        1 mgklirmgpq erwllrtkrl hwsrllfllg mliigstyqh lrrprglssl waavsshqpi
       61 klasrdlsse emmmmsssps kpssemggkm lvpqasvgsd eatlsmtven ipsmpkrtak
      121 miptttknny sptaagterr kedtptssrt ltyytstssr qivkkytptp rgemksyspt
      181 qvrekvkytp sprgrrvgty vpstfmtmet shaitprttv kdsditatyk iletnslkri
      241 meettpttlk gmfdstptfl theveanvlt sprsvmeknn lfpprrvesn ssahpwglvg
      301 ksnpktpqgt vllhtpatse gqvtistmtg sspaetkaft aawslrnpsp rtsvsaikta
      361 paivwrlakk pstapststt ptvrakltmq vhhcvvvkpt pamlttpsps lttallpeel
      421 spspsvlpps lpdlhpkgey ppdlfsveer rqgwvvlhvf gmmyvfvala ivcdeyfvpa
      481 lgvitdklqi sedvagatfm aaggsapelf tsligvfish snvgigtivg savfnilfvi
      541 gtcslfsrei lnltwwplfr dvsfyildli mlilffldsl iawwesllll layafyvftm
      601 kwnkhievwv keqlsrrpva kvmaledlsk edvaeaestg empgeegeta gegeteeksg
      661 getqpegege tetqgkgeec edeneaegkg dnegedegei haedgemkgn egetesqels
      721 aenhgeaknd ekgvedgggs dggdseeeee eeeeqeeeee eeeqeeeeee eeeeeekgne
      781 eplsldwpet rqkqaiylfl lpivfplwlt vpdvrrqesr kffvftflgs imwiamfsyl
      841 mvwwahqvge tigiseeimg ltilaagtsi pdlitsviva rkglgdmavs ssvgsnifdi
      901 tvglpvpwll fslinglqpv pvssnglfca ivllflmllf vissiasckw rmnkilgftm
      961 fllyfvflii svmledriis cpvsv
//
LOCUS       NP_065690                784 aa            linear   PRI 22-JAN-2023
DEFINITION  receptor-interacting serine/threonine-protein kinase 4 [Homo
            sapiens].
ACCESSION   NP_065690
VERSION     NP_065690.2
DBSOURCE    REFSEQ: accession NM_020639.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 784)
  AUTHORS   Fortugno P, Monetta R, Belli M, Botti E, Angelucci F, Palmerini MG,
            Nottola SA, De Luca C, Ceccarini M, Salvatore M, Bianchi L, Macioce
            P, Teson M, Ricci F, Macchiarelli G, Didona B, Costanzo A,
            Castiglia D and Brancati F.
  CONSRTM   Italian Undiagnosed Diseases Network
  TITLE     RIPK4 regulates cell-cell adhesion in epidermal development and
            homeostasis
  JOURNAL   Hum Mol Genet 31 (15), 2535-2547 (2022)
   PUBMED   35220430
  REMARK    GeneRIF: RIPK4 regulates cell-cell adhesion in epidermal
            development and homeostasis.
REFERENCE   2  (residues 1 to 784)
  AUTHORS   Jin A, Zhang L, Fang G and Chen Y.
  TITLE     Receptor interacting protein kinase 4 promotes cell proliferation,
            migration, and invasion in ovarian cancer via targeting protein
            kinase C delta
  JOURNAL   Drug Dev Res 83 (2), 407-415 (2022)
   PUBMED   34414590
  REMARK    GeneRIF: Receptor interacting protein kinase 4 promotes cell
            proliferation, migration, and invasion in ovarian cancer via
            targeting protein kinase C delta.
REFERENCE   3  (residues 1 to 784)
  AUTHORS   Xu J, Wu D, Zhang B, Pan C, Guo Y and Wei Q.
  TITLE     Depletion of RIPK4 parallels higher malignancy potential in
            cutaneous squamous cell carcinoma
  JOURNAL   PeerJ 10, e12932 (2022)
   PUBMED   35186499
  REMARK    GeneRIF: Depletion of RIPK4 parallels higher malignancy potential
            in cutaneous squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 784)
  AUTHORS   Madej E, Ryszawy D, Brozyna AA, Czyz M, Czyz J and Wolnicka-Glubisz
            A.
  TITLE     Deciphering the Functional Role of RIPK4 in Melanoma
  JOURNAL   Int J Mol Sci 22 (21), 11504 (2021)
   PUBMED   34768934
  REMARK    GeneRIF: Deciphering the Functional Role of RIPK4 in Melanoma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 784)
  AUTHORS   Liu S, He L, Sheng C, Su R, Wu X, Sun Y and Xi X.
  TITLE     Overexpression of RIPK4 Predicts Poor Prognosis and Promotes
            Metastasis in Ovarian Cancer
  JOURNAL   Biomed Res Int 2021, 6622439 (2021)
   PUBMED   34124253
  REMARK    GeneRIF: Overexpression of RIPK4 Predicts Poor Prognosis and
            Promotes Metastasis in Ovarian Cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 784)
  AUTHORS   Moran ST, Haider K, Ow Y, Milton P, Chen L and Pillai S.
  TITLE     Protein kinase C-associated kinase can activate NFkappaB in both a
            kinase-dependent and a kinase-independent manner
  JOURNAL   J Biol Chem 278 (24), 21526-21533 (2003)
   PUBMED   12676934
  REMARK    GeneRIF: PKK may function in both a kinase-dependent as well as a
            kinase-independent manner to activate NFkappaB
REFERENCE   7  (residues 1 to 784)
  AUTHORS   Meylan E, Martinon F, Thome M, Gschwendt M and Tschopp J.
  TITLE     RIP4 (DIK/PKK), a novel member of the RIP kinase family, activates
            NF-kappa B and is processed during apoptosis
  JOURNAL   EMBO Rep 3 (12), 1201-1208 (2002)
   PUBMED   12446564
REFERENCE   8  (residues 1 to 784)
  AUTHORS   Chen L, Haider K, Ponda M, Cariappa A, Rowitch D and Pillai S.
  TITLE     Protein kinase C-associated kinase (PKK), a novel
            membrane-associated, ankyrin repeat-containing protein kinase
  JOURNAL   J Biol Chem 276 (24), 21737-21744 (2001)
   PUBMED   11278382
REFERENCE   9  (residues 1 to 784)
  AUTHORS   Scanlan MJ, Gout I, Gordon CM, Williamson B, Stockert E, Gure AO,
            Jager D, Chen YT, Mackay A, O'Hare MJ and Old LJ.
  TITLE     Humoral immunity to human breast cancer: antigen definition and
            quantitative analysis of mRNA expression
  JOURNAL   Cancer Immun 1, 4 (2001)
   PUBMED   12747765
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 784)
  AUTHORS   Bahr C, Rohwer A, Stempka L, Rincke G, Marks F and Gschwendt M.
  TITLE     DIK, a novel protein kinase that interacts with protein kinase
            Cdelta. Cloning, characterization, and gene analysis
  JOURNAL   J Biol Chem 275 (46), 36350-36357 (2000)
   PUBMED   10948194
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ278016.1, BC035755.1,
            AK027424.1 and BM979316.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 26, 2004 this sequence version replaced NP_065690.1.
            
            Summary: The protein encoded by this gene is a serine/threonine
            protein kinase that interacts with protein kinase C-delta. The
            encoded protein can also activate NFkappaB and is required for
            keratinocyte differentiation. This kinase undergoes
            autophosphorylation. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ278016.1, AB047783.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332512.8/ ENSP00000332454.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..784
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     Protein         1..784
                     /product="receptor-interacting serine/threonine-protein
                     kinase 4"
                     /EC_number="2.7.11.1"
                     /note="PKC-delta-interacting protein kinase;
                     serine/threonine-protein kinase ANKRD3; ankyrin repeat
                     domain-containing protein 3; protein kinase C-associated
                     kinase"
                     /calculated_mol_wt=86310
     Region          25..290
                     /region_name="STKc_RIP4_like"
                     /note="Catalytic domain of the Serine/Threonine kinases,
                     Receptor Interacting Protein 4 and similar proteins;
                     cd14025"
                     /db_xref="CDD:270927"
     Site            order(28..32,36,49,51,82,96..99,103,105,143,145,147..148,
                     150,161,164,183..186)
                     /site_type="active"
                     /db_xref="CDD:270927"
     Site            order(28..32,36,49,51,82,96..99,103,143,145,147..148,150,
                     161)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270927"
     Site            order(32,103,105,143,145,147,164,183..186)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270927"
     Site            160..186
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270927"
     Region          410..501
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          437..468
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          470..501
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          471..>715
                     /region_name="PHA03095"
                     /note="ankyrin-like protein; Provisional"
                     /db_xref="CDD:222980"
     Site            order(503,505,509..510,513..515,517..518,522,525,534,536,
                     538,542..543,546..548,550..551,555,558,567,569,571,
                     575..576,579..581,583..584,588,591)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          503..534
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          536..567
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          569..600
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(603,605,609..610,613..615,617..618,622,625,634,636,
                     638,642..643,646..648,650..651,655,658,667,669,671,
                     675..676,679..681,683..684,688,691)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          603..634
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          636..667
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          669..699
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          674..764
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          734..764
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..784
                     /gene="RIPK4"
                     /gene_synonym="ANKK2; ANKRD3; CHANDS; DIK; NKRD3; PKK;
                     PPS2; RIP4"
                     /coded_by="NM_020639.3:12..2366"
                     /db_xref="CCDS:CCDS13675.1"
                     /db_xref="GeneID:54101"
                     /db_xref="HGNC:HGNC:496"
                     /db_xref="MIM:605706"
ORIGIN      
        1 megdggtpwa lallrtfdag eftgwekvgs ggfgqvykvr hvhwktwlai kcspslhvdd
       61 rermelleea kkmemakfry ilpvygicre pvglvmeyme tgslekllas eplpwdlrfr
      121 iihetavgmn flhcmappll hldlkpanil ldahyhvkis dfglakcngl shshdlsmdg
      181 lfgtiaylpp erireksrlf dtkhdvysfa iviwgvltqk kpfadeknil himvkvvkgh
      241 rpelppvcra rpracshlir lmqrcwqgdp rvrptfqeit setedlcekp ddevketahd
      301 ldvksppepr sevvparlkr asaptfdndy slsellsqld sgvsqavegp eelsrssses
      361 klpssgsgkr lsgvssvdsa fssrgslsls ferepstsdl gttdvqkkkl vdaivsgdts
      421 klmkilqpqd vdlaldsgas llhlaveagq eecakwllln nanpnlsnrr gstplhmave
      481 rrvrgvvell larkisvnak dedqwtalhf aaqngdesst rllleknasv nevdfegrtp
      541 mhvacqhgqe nivrillrrg vdvslqgkda wlplhyaawq ghlpivklla kqpgvsvnaq
      601 tldgrtplhl aaqrghyrva rilidlcsdv nvcsllaqtp lhvaaetght starlllhrg
      661 agkeamtsdg ytalhlaarn ghlatvkllv eekadvlarg plnqtalhla aahghsevve
      721 elvsadvidl fdeqglsalh laaqgrhaqt vetllrhgah inlqslkfqg ghgpaatllr
      781 rskt
//
LOCUS       NP_065210               1719 aa            linear   PRI 26-FEB-2023
DEFINITION  ankyrin-1 isoform 2 [Homo sapiens].
ACCESSION   NP_065210
VERSION     NP_065210.2
DBSOURCE    REFSEQ: accession NM_020477.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1719)
  AUTHORS   More TA, Devendra R, Dongerdiye R, Warang P and Kedar P.
  TITLE     Targeted next-generation sequencing identifies novel deleterious
            variants in ANK1 gene causing severe hereditary spherocytosis in
            Indian patients: expanding the molecular and clinical spectrum
  JOURNAL   Mol Genet Genomics 298 (2), 427-439 (2023)
   PUBMED   36598564
  REMARK    GeneRIF: Targeted next-generation sequencing identifies novel
            deleterious variants in ANK1 gene causing severe hereditary
            spherocytosis in Indian patients: expanding the molecular and
            clinical spectrum.
REFERENCE   2  (residues 1 to 1719)
  AUTHORS   Wang Y, Huang L, Zhu Y, An X, Li J, Zhen J and Yu J.
  TITLE     De novo variations of ANK1 gene caused hereditary spherocytosis in
            two Chinese children by affecting pre-mRNA splicing
  JOURNAL   BMC Pediatr 23 (1), 23 (2023)
   PUBMED   36647015
  REMARK    GeneRIF: De novo variations of ANK1 gene caused hereditary
            spherocytosis in two Chinese children by affecting pre-mRNA
            splicing.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1719)
  AUTHORS   Xu L, Wei X, Liang G, Zhu D, Zhang Y, Zhang Y and Shang X.
  TITLE     A novel splicing mutation of ANK1 is associated with phenotypic
            heterogeneity of hereditary spherocytosis in a Chinese family
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1869 (1), 166595 (2023)
   PUBMED   36336297
  REMARK    GeneRIF: A novel splicing mutation of ANK1 is associated with
            phenotypic heterogeneity of hereditary spherocytosis in a Chinese
            family.
REFERENCE   4  (residues 1 to 1719)
  AUTHORS   Mansour-Hendili L, Flamarion E, Michel M, Morbieu C, Gameiro C,
            Sloma I, Badaoui B, Darnige L, Camard M, Lunati-Rozie A, Aissat A,
            Tarfi S, Friedrich C, Picard V, Garcon L, Abermil N, Kaltenbach S,
            Radford-Weiss I, Kosmider O, Fanen P, Bartolucci P, Godeau B,
            Galacteros F and Funalot B.
  TITLE     Acquired spherocytosis due to somatic ANK1 mutations as a
            manifestation of clonal hematopoiesis in elderly patients
  JOURNAL   Am J Hematol 97 (8), E285-E288 (2022)
   PUBMED   35560067
  REMARK    GeneRIF: Acquired spherocytosis due to somatic ANK1 mutations as a
            manifestation of clonal hematopoiesis in elderly patients.
REFERENCE   5  (residues 1 to 1719)
  AUTHORS   Zhu Z, Wang Z, Zang J, Lu Y, Xiao Z, Zheng G and Wu F.
  TITLE     The SNP rs516946 Interacted in the Association of MetS with Dietary
            Iron among Chinese Males but Not Females
  JOURNAL   Nutrients 14 (10), 2024 (2022)
   PUBMED   35631165
  REMARK    GeneRIF: The SNP rs516946 Interacted in the Association of MetS
            with Dietary Iron among Chinese Males but Not Females.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1719)
  AUTHORS   Fujimoto T, Lee K, Miwa S and Ogawa K.
  TITLE     Immunocytochemical localization of fodrin and ankyrin in bovine
            chromaffin cells in vitro
  JOURNAL   J Histochem Cytochem 39 (11), 1485-1493 (1991)
   PUBMED   1833445
REFERENCE   7  (residues 1 to 1719)
  AUTHORS   Lux SE, John KM and Bennett V.
  TITLE     Analysis of cDNA for human erythrocyte ankyrin indicates a repeated
            structure with homology to tissue-differentiation and cell-cycle
            control proteins
  JOURNAL   Nature 344 (6261), 36-42 (1990)
   PUBMED   2137557
REFERENCE   8  (residues 1 to 1719)
  AUTHORS   Lambert S, Yu H, Prchal JT, Lawler J, Ruff P, Speicher D, Cheung
            MC, Kan YW and Palek J.
  TITLE     cDNA sequence for human erythrocyte ankyrin
  JOURNAL   Proc Natl Acad Sci U S A 87 (5), 1730-1734 (1990)
   PUBMED   1689849
REFERENCE   9  (residues 1 to 1719)
  AUTHORS   Bennett,V.
  TITLE     Immunoreactive forms of human erythrocyte ankyrin are present in
            diverse cells and tissues
  JOURNAL   Nature 281 (5732), 597-599 (1979)
   PUBMED   492324
REFERENCE   10 (residues 1 to 1719)
  AUTHORS   Bennett,V. and Stenbuck,P.J.
  TITLE     The membrane attachment protein for spectrin is associated with
            band 3 in human erythrocyte membranes
  JOURNAL   Nature 280 (5722), 468-473 (1979)
   PUBMED   379653
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X16609.1, AB209418.1, M28880.1,
            AK126647.1, AC113133.5 and N63745.1.
            On Jul 13, 2005 this sequence version replaced NP_065210.1.
            
            Summary: Ankyrins are a family of proteins that link the integral
            membrane proteins to the underlying spectrin-actin cytoskeleton and
            play key roles in activities such as cell motility, activation,
            proliferation, contact and the maintenance of specialized membrane
            domains. Multiple isoforms of ankyrin with different affinities for
            various target proteins are expressed in a tissue-specific,
            developmentally regulated manner. Most ankyrins are typically
            composed of three structural domains: an amino-terminal domain
            containing multiple ankyrin repeats; a central region with a highly
            conserved spectrin binding domain; and a carboxy-terminal
            regulatory domain which is the least conserved and subject to
            variation. Ankyrin 1, the prototype of this family, was first
            discovered in the erythrocytes, but since has also been found in
            brain and muscles. Mutations in erythrocytic ankyrin 1 have been
            associated in approximately half of all patients with hereditary
            spherocytosis. Complex patterns of alternative splicing in the
            regulatory domain, giving rise to different isoforms of ankyrin 1
            have been described. Truncated muscle-specific isoforms of ankyrin
            1 resulting from usage of an alternate promoter have also been
            identified. [provided by RefSeq, Dec 2008].
            
            Transcript Variant: This variant (2) lacks an in-frame segment near
            to the 3' coding region, compared to variant 1. The resulting
            isoform (2, also referred to as isoform 2.2) is therefore shorter
            than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853562.30426.1,
                                           SRR11853567.28858.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1719
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.21"
     Protein         1..1719
                     /product="ankyrin-1 isoform 2"
                     /note="ankyrin-R; ANK-1; erythrocyte ankyrin; ankyrin 1,
                     erythrocytic"
                     /calculated_mol_wt=188869
     Region          1..827
                     /region_name="89 kDa domain"
                     /note="propagated from UniProtKB/Swiss-Prot (P16157.3)"
     Region          14..42
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          16..107
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); pfam12796"
                     /db_xref="CDD:432791"
     Region          44..75
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          78..108
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(79,83..84,87..89,91..92,96,99,108,110,112,116..117,
                     120..122,124..125,129,132,141,143,145,149..150,153..155,
                     157..158,162,165)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          <90..>435
                     /region_name="PHA02876"
                     /note="ankyrin repeat protein; Provisional"
                     /db_xref="CDD:165207"
     Site            105
                     /site_type="hydroxylation"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Region          110..141
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          143..167
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          176..203
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          206..236
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            233
                     /site_type="hydroxylation"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Region          238..269
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          271..302
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          304..335
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          340..368
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          341..554
                     /region_name="ANKYR"
                     /note="Ankyrin repeat [Signal transduction mechanisms];
                     COG0666"
                     /db_xref="CDD:223738"
     Region          370..401
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(403,405,409..410,413..415,417..418,422,425,434,436,
                     438,442..443,446..448,450..451,455,458,467,469,471,
                     475..476,479..481,483..484,488,491)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          403..434
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            429
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Site            431
                     /site_type="hydroxylation"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Region          436..467
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            464
                     /site_type="hydroxylation"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Region          469..498
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          503..533
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(504,508..509,512..514,516..517,521,524,533,535,537,
                     541..542,545..547,549..550,554,557,566,568,570,574..575,
                     578..580,582..583,587,590)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          535..566
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          546..>759
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          568..596
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          601..632
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            629
                     /site_type="hydroxylation"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Region          634..665
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            662
                     /site_type="hydroxylation"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Site            order(667,669,673..674,677..679,681..682,686,689,698,700,
                     702,706..707,710..712,714..715,719,722,731,733,735,
                     739..740,743..745,747..748,752,755)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          667..698
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            695
                     /site_type="hydroxylation"
                     /note="(3S)-3-hydroxyaspartate, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Region          700..731
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            728
                     /site_type="hydroxylation"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Region          733..761
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          734..786
                     /region_name="Ank_4"
                     /note="Ankyrin repeats (many copies); pfam13637"
                     /db_xref="CDD:372654"
     Site            759
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Site            761
                     /site_type="hydroxylation"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Site            781
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Site            817
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Site            834
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Site            856
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Region          875..904
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P16157.3)"
     Region          911..1015
                     /region_name="ZU5"
                     /note="Domain present in ZO-1 and Unc5-like netrin
                     receptors; smart00218"
                     /db_xref="CDD:128514"
     Site            961
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q02357; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Site            1073
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q02357; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Site            1082
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q02357; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Region          1234..1362
                     /region_name="UPA domain. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P16157.3)"
     Region          1236..1365
                     /region_name="UPA_2"
                     /note="UPA domain; pfam17809"
                     /db_xref="CDD:375346"
     Site            1378
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Site            1380
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Site            1390
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q02357; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Site            1392
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q02357; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Site            1396
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Site            1400
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q02357; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Region          1401..1484
                     /region_name="Death_ank1"
                     /note="Death domain of Ankyrin-1; cd08805"
                     /db_xref="CDD:260067"
     Site            1428
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     Region          1486..1510
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P16157.3)"
     Site            1486
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3)"
     CDS             1..1719
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /coded_by="NM_020477.3:85..5244"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:286"
                     /db_xref="HGNC:HGNC:492"
                     /db_xref="MIM:612641"
ORIGIN      
        1 mpysvgfrea daatsflraa rsgnldkald hlrngvdint cnqnglnglh laskeghvkm
       61 vvellhkeii letttkkgnt alhiaalagq devvrelvny ganvnaqsqk gftplymaaq
      121 enhlevvkfl lenganqnva tedgftplav alqqghenvv ahlinygtkg kvrlpalhia
      181 arnddtrtaa vllqndpnpd vlsktgftpl hiaahyenln vaqlllnrga svnftpqngi
      241 tplhiasrrg nvimvrllld rgaqietktk deltplhcaa rnghvrisei lldhgapiqa
      301 ktknglspih maaqgdhldc vrlllqydae idditldhlt plhvaahcgh hrvakvlldk
      361 gakpnsraln gftplhiack knhvrvmell lktgasidav tesgltplhv asfmghlpiv
      421 knllqrgasp nvsnvkvetp lhmaaraght evakyllqnk akvnakakdd qtplhcaari
      481 ghtnmvklll ennanpnlat taghtplhia areghvetvl allekeasqa cmtkkgftpl
      541 hvaakygkvr vaelllerda hpnaagkngl tplhvavhhn nldivklllp rggsphspaw
      601 ngytplhiaa kqnqvevars llqyggsana esvqgvtplh laaqeghaem valllskqan
      661 gnlgnksglt plhlvaqegh vpvadvlikh gvmvdattrm gytplhvash ygniklvkfl
      721 lqhqadvnak tklgysplhq aaqqghtdiv tlllkngasp nevssdgttp laiakrlgyi
      781 svtdvlkvvt detsfvlvsd khrmsfpetv deildvsede geelisfkae rrdsrdvdee
      841 kelldfvpkl dqvvespaip ripcampetv virseeqeqa skeydedsli psspatetsd
      901 nispvaspvh tgflvsfmvd arggsmrgsr hnglrvvipp rtcaaptrit crlvkpqkls
      961 tppplaeeeg lasriialgp tgaqflspvi veiphfashg rgdrelvvlr sengsvwkeh
     1021 rsrygesyld qilngmdeel gsleelekkr vcriittdfp lyfvimsrlc qdydtigpeg
     1081 gslksklvpl vqatfpenav tkrvklalqa qpvpdelvtk llgnqatfsp ivtveprrrk
     1141 fhrpiglrip lppswtdnpr dsgegdttsl rllcsviggt dqaqweditg ttklvyanec
     1201 anfttnvsar fwlsdcprta eavnfatlly keltavpyma kfvifakmnd pregrlrcyc
     1261 mtddkvdktl eqhenfveva rsrdievleg mslfaelsgn lvpvkkaaqq rsfhfqsfre
     1321 nrlampvkvr dssrepggsl sflrkamkye dtqhilchln itmppcakgs gaedrrrtpt
     1381 plalrysils estpgslsgt eqaemkmavi sehlglswae larelqfsve dinrirvenp
     1441 nslleqsval lnlwviregq nanmenlyta lqsidrgeiv nmlegsgrqs rnlkpdrrht
     1501 drdyslspsq mnghqrgqar ithsptvsqv tersqdrlqd wdadgsivsy lqdaaqgswq
     1561 eevtqgphsf qgtstmtegl epggsqeyek vlvsvsehtw teqpeaessq adrdrrqqgq
     1621 eeqvqeaknt ftqvvqgnef qnipgeqvte eqftdeqgni vtkkiirkvv rqidlssada
     1681 aqeheevtve gpledpsele vdidyfmkhs kdhtstpnp
//
LOCUS       NP_001193973            1294 aa            linear   PRI 26-FEB-2023
DEFINITION  CLIP-associating protein 2 isoform 2 [Homo sapiens].
ACCESSION   NP_001193973
VERSION     NP_001193973.1
DBSOURCE    REFSEQ: accession NM_001207044.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1294)
  AUTHORS   Rodgers NC, Lawrence EJ, Sawant AV, Efimova N, Gonzalez-Vasquez G,
            Hickman TT, Kaverina I and Zanic M.
  TITLE     CLASP2 facilitates dynamic actin filament organization along the
            microtubule lattice
  JOURNAL   Mol Biol Cell 34 (3), br3 (2023)
   PUBMED   36598814
  REMARK    GeneRIF: CLASP2 facilitates dynamic actin filament organization
            along the microtubule lattice.
REFERENCE   2  (residues 1 to 1294)
  AUTHORS   Luo W, Demidov V, Shen Q, Girao H, Chakraborty M, Maiorov A,
            Ataullakhanov FI, Lin C, Maiato H and Grishchuk EL.
  TITLE     CLASP2 recognizes tubulins exposed at the microtubule plus-end in a
            nucleotide state-sensitive manner
  JOURNAL   Sci Adv 9 (1), eabq5404 (2023)
   PUBMED   36598991
  REMARK    GeneRIF: CLASP2 recognizes tubulins exposed at the microtubule
            plus-end in a nucleotide state-sensitive manner.
REFERENCE   3  (residues 1 to 1294)
  AUTHORS   Chia S, Leung T and Tan I.
  TITLE     Cyclical phosphorylation of LRAP35a and CLASP2 by GSK3beta and
            CK1delta regulates EB1-dependent MT dynamics in cell migration
  JOURNAL   Cell Rep 36 (11), 109687 (2021)
   PUBMED   34525355
  REMARK    GeneRIF: Cyclical phosphorylation of LRAP35a and CLASP2 by GSK3beta
            and CK1delta regulates EB1-dependent MT dynamics in cell migration.
REFERENCE   4  (residues 1 to 1294)
  AUTHORS   Karki P, Ke Y, Zhang CO, Li Y, Tian Y, Son S, Yoshimura A, Kaibuchi
            K, Birukov KG and Birukova AA.
  TITLE     SOCS3-microtubule interaction via CLIP-170 and CLASP2 is critical
            for modulation of endothelial inflammation and lung injury
  JOURNAL   J Biol Chem 296, 100239 (2021)
   PUBMED   33372035
  REMARK    GeneRIF: SOCS3-microtubule interaction via CLIP-170 and CLASP2 is
            critical for modulation of endothelial inflammation and lung
            injury.
REFERENCE   5  (residues 1 to 1294)
  AUTHORS   Mitra S, Shanmugapriya S, Santos da Silva E and Naghavi MH.
  TITLE     HIV-1 Exploits CLASP2 To Induce Microtubule Stabilization and
            Facilitate Virus Trafficking to the Nucleus
  JOURNAL   J Virol 94 (14), e00404-20 (2020)
   PUBMED   32376623
  REMARK    GeneRIF: HIV-1 Exploits CLASP2 To Induce Microtubule Stabilization
            and Facilitate Virus Trafficking to the Nucleus.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1294)
  AUTHORS   Mimori-Kiyosue Y, Grigoriev I, Lansbergen G, Sasaki H, Matsui C,
            Severin F, Galjart N, Grosveld F, Vorobjev I, Tsukita S and
            Akhmanova A.
  TITLE     CLASP1 and CLASP2 bind to EB1 and regulate microtubule plus-end
            dynamics at the cell cortex
  JOURNAL   J Cell Biol 168 (1), 141-153 (2005)
   PUBMED   15631994
  REMARK    GeneRIF: propose that CLASP1 and CLASP2 can mediate interactions
            between microtubule plus ends and the cell cortex and act as local
            rescue factors, possibly through forming a complex with EB1 at
            microtubule tips
REFERENCE   7  (residues 1 to 1294)
  AUTHORS   Lee H, Engel U, Rusch J, Scherrer S, Sheard K and Van Vactor D.
  TITLE     The microtubule plus end tracking protein Orbit/MAST/CLASP acts
            downstream of the tyrosine kinase Abl in mediating axon guidance
  JOURNAL   Neuron 42 (6), 913-926 (2004)
   PUBMED   15207236
REFERENCE   8  (residues 1 to 1294)
  AUTHORS   Maiato H, Fairley EA, Rieder CL, Swedlow JR, Sunkel CE and Earnshaw
            WC.
  TITLE     Human CLASP1 is an outer kinetochore component that regulates
            spindle microtubule dynamics
  JOURNAL   Cell 113 (7), 891-904 (2003)
   PUBMED   12837247
REFERENCE   9  (residues 1 to 1294)
  AUTHORS   Akhmanova A, Hoogenraad CC, Drabek K, Stepanova T, Dortland B,
            Verkerk T, Vermeulen W, Burgering BM, De Zeeuw CI, Grosveld F and
            Galjart N.
  TITLE     Clasps are CLIP-115 and -170 associating proteins involved in the
            regional regulation of microtubule dynamics in motile fibroblasts
  JOURNAL   Cell 104 (6), 923-935 (2001)
   PUBMED   11290329
REFERENCE   10 (residues 1 to 1294)
  AUTHORS   Lemos CL, Sampaio P, Maiato H, Costa M, Omel'yanchuk LV, Liberal V
            and Sunkel CE.
  TITLE     Mast, a conserved microtubule-associated protein required for
            bipolar mitotic spindle organization
  JOURNAL   EMBO J 19 (14), 3668-3682 (2000)
   PUBMED   10899121
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC113170.2, AC132515.6 and AC093114.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB014527.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1294
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.3"
     Protein         1..1294
                     /product="CLIP-associating protein 2 isoform 2"
                     /note="CLIP-associating protein 2; multiple asters
                     (Mast)-like homolog 2; protein Orbit homolog 2;
                     CLIP-associating protein CLASP2"
                     /calculated_mol_wt=140933
     Region          1..61
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75122.3)"
     Site            8
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            14
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q99JD4; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Region          60..311
                     /region_name="TOG 1.
                     /evidence=ECO:0000269|PubMed:26003921"
                     /note="propagated from UniProtKB/Swiss-Prot (O75122.3)"
     Region          93..305
                     /region_name="CLASP_N"
                     /note="CLASP N terminal; pfam12348"
                     /db_xref="CDD:432496"
     Region          314..368
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75122.3)"
     Site            316
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            327
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            330
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            360
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            368
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BRT1; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            370
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            407
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q99JD4; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Region          409..467
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75122.3)"
     Region          <438..>526
                     /region_name="CoV_N-NTD"
                     /note="N-terminal domain of nucleocapsid (N) protein of
                     coronavirus; cl41918"
                     /db_xref="CDD:455263"
     Region          444..580
                     /region_name="Interaction with microtubules, MAPRE1 and
                     MAPRE3. /evidence=ECO:0000269|PubMed:15631994"
                     /note="propagated from UniProtKB/Swiss-Prot (O75122.3)"
     Site            455
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            459
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            463
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            478
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Region          488..557
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75122.3)"
     Site            489
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Region          494..497
                     /region_name="SXIP motif 1, mediates interaction with
                     MAPRE1 and targeting to microtubule plus ends.
                     /evidence=ECO:0000269|PubMed:19632184,
                     ECO:0000269|PubMed:26003921"
                     /note="propagated from UniProtKB/Swiss-Prot (O75122.3)"
     Site            507
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Region          517..520
                     /region_name="SXIP motif 2, mediates interaction with
                     MAPRE1 and targeting to microtubule plus ends.
                     /evidence=ECO:0000269|PubMed:19632184,
                     ECO:0000269|PubMed:26003921"
                     /note="propagated from UniProtKB/Swiss-Prot (O75122.3)"
     Site            525
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            529
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            585
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            587
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            596
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Region          617..645
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75122.3)"
     Site            621
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            627
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BRT1; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Region          649..881
                     /region_name="TOG 2.
                     /evidence=ECO:0000269|PubMed:26003921"
                     /note="propagated from UniProtKB/Swiss-Prot (O75122.3)"
     Region          655..682
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(671..672,675,678..679,682,713..714,717,720..721,724,
                     755..756,759,762..763,794..795,798,801..802)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          694..725
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          734..763
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          774..803
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            787
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Region          872..1294
                     /region_name="Interaction with RSN and localization to the
                     Golgi and kinetochores"
                     /note="propagated from UniProtKB/Swiss-Prot (O75122.3)"
     Region          878..928
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75122.3)"
     Site            892
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Region          952..995
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75122.3)"
     Site            952
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            955
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Site            1013
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Region          1017..1294
                     /region_name="Required for cortical localization"
                     /note="propagated from UniProtKB/Swiss-Prot (O75122.3)"
     Site            1029
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75122.3)"
     Region          1064..1086
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(1078..1079,1082,1085..1086,1120..1121,1124,
                     1127..1128,1161..1162,1165,1168..1169,1172,1197,
                     1200..1201,1238..1239,1242,1245..1246)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          1099..1130
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          1140..1173
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          1218..1247
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     CDS             1..1294
                     /gene="CLASP2"
                     /coded_by="NM_001207044.3:119..4003"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS93234.1"
                     /db_xref="GeneID:23122"
                     /db_xref="HGNC:HGNC:17078"
                     /db_xref="MIM:605853"
ORIGIN      
        1 mamgddksfd deesvdgnrp ssaasafkvp apktsgnpan sarkpgsagg pkvggaskeg
       61 gagavdeddf ikaftdvpsi qiyssrelee tlnkireils ddkhdwdqra nalkkirsll
      121 vagaaqydcf fqhlrlldga lklsakdlrs qvvreacitv ahlstvlgnk fdhgaeaivp
      181 tlfnlvpnsa kvmatsgcaa irfiirhthv prliplitsn ctsksvpvrr rsfefldlll
      241 qewqthsler haavlvetik kgihdadaea rvearktymg lrnhfpgeae tlynslepsy
      301 qkslqtylks sgsvaslpqs drsssssqes lnrpfsskws tanpstvagr vsagsskass
      361 lpgslqrsrs didvnaaaga kahhaagqsv rsgrlgagal nagsyasled tsdkldgtas
      421 edgrvrakls aplagmgnak adsrgrsrtk mvsqsqpgsr sgspgrvltt talstvssgv
      481 qrvlvnsasa qkrskiprsq gcsreaspsr lsvarssrip rpsvsqgcsr easressrdt
      541 spvrsfqpla srhhsrstga lyapevygas gpgygisqss rlsssvsamr vlntgsdvee
      601 avadalkkpa rrryesygmh sdddansdas sacsersyss rngsiptymr qtedvaevln
      661 rcassnwser kegllglqnl lknqrtlsrv elkrlceift rmfadphgkr vfsmfletlv
      721 dfiqvhkddl qdwlfvlltq llkkmgadll gsvqakvqka ldvtresfpn dlqfnilmrf
      781 tvdqtqtpsl kvkvailkyi etlakqmdpg dfinssetrl avsrvitwtt epkssdvrka
      841 aqsvlislfe lntpeftmll galpktfqdg atkllhnhlr ntgngtqssm gspltrptpr
      901 spanwssplt sptntsqntl spsafdydte nmnsediyss lrgvteaiqn fsfrsqedmn
      961 eplkrdskkd dgdsmcggpg msdpraggda tdssqtaldn kasllhsmpt hssprsrdyn
     1021 pynysdsisp fnksalkeam fdddadqfpd dlsldhsdlv aellkelsnh nerveerkia
     1081 lyelmkltqe esfsvwdehf ktilllllet lgdkeptira lalkvlreil rhqparfkny
     1141 aeltvmktle ahkdphkevv rsaeeaasvl atsispeqci kvlcpiiqta dypinlaaik
     1201 mqtkviervs ketlnlllpe impgliqgyd nsessvrkac vfclvavhav igdelkphls
     1261 qltgskmkll nlyikraqtg sggadpttdv sgqs
//
LOCUS       NP_036595                856 aa            linear   PRI 12-MAR-2023
DEFINITION  V-type proton ATPase 116 kDa subunit a 2 [Homo sapiens].
ACCESSION   NP_036595
VERSION     NP_036595.2
DBSOURCE    REFSEQ: accession NM_012463.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 856)
  AUTHORS   Wang L, Wu D, Robinson CV, Wu H and Fu TM.
  TITLE     Structures of a Complete Human V-ATPase Reveal Mechanisms of Its
            Assembly
  JOURNAL   Mol Cell 80 (3), 501-511 (2020)
   PUBMED   33065002
REFERENCE   2  (residues 1 to 856)
  AUTHORS   Vasanthakumar T and Rubinstein JL.
  TITLE     Structure and Roles of V-type ATPases
  JOURNAL   Trends Biochem Sci 45 (4), 295-307 (2020)
   PUBMED   32001091
  REMARK    Review article
REFERENCE   3  (residues 1 to 856)
  AUTHORS   Ibrahim SA, Kulshrestha A, Katara GK, Riehl V, Sahoo M and Beaman
            KD.
  TITLE     Cancer-associated V-ATPase induces delayed apoptosis of
            protumorigenic neutrophils
  JOURNAL   Mol Oncol 14 (3), 590-610 (2020)
   PUBMED   31925882
  REMARK    GeneRIF: Cancer-associated V-ATPase induces delayed apoptosis of
            protumorigenic neutrophils.
REFERENCE   4  (residues 1 to 856)
  AUTHORS   Karacan I, Diz Kucukkaya R, Karakus FN, Solakoglu S, Tolun A,
            Hancer VS and Turanli ET.
  TITLE     A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual
            Manifestations of Bleeding Diathesis and Defective Wound Healing
  JOURNAL   Turk J Haematol 36 (1), 29-36 (2019)
   PUBMED   30474613
  REMARK    GeneRIF: Exome sequence analysis for the proband led to the
            identification of novel homozygous frameshift c.2085_2088del
            (p.(Ser695Argfs*12)) in ATP6V0A2, within the linked region, in the
            two affected siblings.
REFERENCE   5  (residues 1 to 856)
  AUTHORS   Sinha A, Singh V, Singh S and Yadav S.
  TITLE     Proteomic analyses reveal lower expression of TEX40 and ATP6V0A2
            proteins related to calcium ion entry and acrosomal acidification
            in asthenozoospermic males
  JOURNAL   Life Sci 218, 81-88 (2019)
   PUBMED   30550884
  REMARK    GeneRIF: Low ATP6V0A2 expression is associated with
            asthenozoospermia.
REFERENCE   6  (residues 1 to 856)
  AUTHORS   Kawasaki-Nishi S, Nishi T and Forgac M.
  TITLE     Proton translocation driven by ATP hydrolysis in V-ATPases
  JOURNAL   FEBS Lett 545 (1), 76-85 (2003)
   PUBMED   12788495
  REMARK    Review article
REFERENCE   7  (residues 1 to 856)
  AUTHORS   Nishi T and Forgac M.
  TITLE     The vacuolar (H+)-ATPases--nature's most versatile proton pumps
  JOURNAL   Nat Rev Mol Cell Biol 3 (2), 94-103 (2002)
   PUBMED   11836511
  REMARK    Review article
REFERENCE   8  (residues 1 to 856)
  AUTHORS   Van Maldergem,L., Dobyns,W. and Kornak,U.
  TITLE     ATP6V0A2-Related Cutis Laxa
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301755
REFERENCE   9  (residues 1 to 856)
  AUTHORS   Lee C, Ghoshal K and Beaman KD.
  TITLE     Cloning of a cDNA for a T cell produced molecule with a putative
            immune regulatory role
  JOURNAL   Mol Immunol 27 (11), 1137-1144 (1990)
   PUBMED   2247090
REFERENCE   10 (residues 1 to 856)
  AUTHORS   Dautry-Varsat,A.
  TITLE     Receptor-mediated endocytosis: the intracellular journey of
            transferrin and its receptor
  JOURNAL   Biochimie 68 (3), 375-381 (1986)
   PUBMED   2874839
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC068531.1, DA737084.1,
            BI562012.1, AC117503.8 and R51339.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 23, 2004 this sequence version replaced NP_036595.1.
            
            Summary: The protein encoded by this gene is a subunit of the
            vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is
            present in intracellular vesicles and in the plasma membrane of
            specialized cells, and which is essential for the acidification of
            diverse cellular components. V-ATPase is comprised of a membrane
            peripheral V(1) domain for ATP hydrolysis, and an integral membrane
            V(0) domain for proton translocation. The subunit encoded by this
            gene is a component of the V(0) domain. Mutations in this gene are
            a cause of both cutis laxa type II and wrinkly skin syndrome.
            [provided by RefSeq, Jul 2009].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.270118.1,
                                           SRR1660805.19163.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000330342.8/ ENSP00000332247.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..856
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     Protein         1..856
                     /product="V-type proton ATPase 116 kDa subunit a 2"
                     /EC_number="7.1.2.1"
                     /note="v-type proton ATPase 116 kDa subunit a; ATPase, H+
                     transporting, lysosomal V0 subunit a2; vacuolar proton
                     translocating ATPase 116 kDa subunit a; A2V-ATPase;
                     regeneration and tolerance factor; lysosomal
                     H(+)-transporting ATPase V0 subunit a2; V-ATPase 116 kDa
                     subunit a2; V-type proton ATPase 116 kDa subunit a2;
                     V-ATPase 116 kDa subunit a 2; lysosomal H(+)-transporting
                     ATPase V0 subunit a 2; V-ATPase subunit a2"
                     /calculated_mol_wt=97952
     Region          28..842
                     /region_name="V_ATPase_I"
                     /note="V-type ATPase 116kDa subunit family; pfam01496"
                     /db_xref="CDD:426290"
     Site            394..412
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2)"
     Site            415..431
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2)"
     Site            446..475
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2)"
     Site            484
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y487.2)"
     Site            505
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y487.2)"
     Site            550..569
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2)"
     Site            588..608
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2)"
     Site            652..671
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2)"
     Site            695
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y487.2)"
     Site            700
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P15920; propagated from
                     UniProtKB/Swiss-Prot (Q9Y487.2)"
     Site            740..764
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2)"
     Site            786..824
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2)"
     CDS             1..856
                     /gene="ATP6V0A2"
                     /gene_synonym="A2; a2V; ARCL; ARCL2A; ATP6A2; ATP6N1D;
                     J6B7; RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
                     /coded_by="NM_012463.4:214..2784"
                     /db_xref="CCDS:CCDS9254.1"
                     /db_xref="GeneID:23545"
                     /db_xref="HGNC:HGNC:18481"
                     /db_xref="MIM:611716"
ORIGIN      
        1 mgslfrsetm claqlflqsg tayeclsalg ekglvqfrdl nqnvssfqrk fvgevkrcee
       61 lerilvylvq einradiplp egeasppapp lkqvlemqeq lqklevelre vtknkeklrk
      121 nllelieyth mlrvtktfvk rnvefeptye efpslesdsl ldyscmqrlg aklgfvsgli
      181 nqgkveafek mlwrvckgyt ivsyaeldes ledpetgevi kwyvflisfw geqighkvkk
      241 icdcyhchvy pypntaeerr eiqeglntri qdlytvlhkt edylrqvlck aaesvysrvi
      301 qvkkmkaiyh mlnmcsfdvt nkcliaevwc peadlqdlrr aleegsresg atipsfmnii
      361 ptketpptri rtnkftegfq nivdaygvgs yrevnpalft iitfpflfav mfgdfghgfv
      421 mflfalllvl nenhprlnqs qeimrmffng ryilllmglf svytgliynd cfsksvnlfg
      481 sgwnvsamys sshppaehkk mvlwndsvvr hnsilqldps ipgvfrgpyp lgidpiwnla
      541 tnrltflnsf kmkmsvilgi ihmtfgvilg ifnhlhfrkk fniylvsipe llfmlcifgy
      601 lifmifykwl vfsaetsrva psiliefinm flfpasktsg lytgqeyvqr vllvvtalsv
      661 pvlflgkplf llwlhngrsc fgvnrsgytl irkdseeevs llgsqdieeg nhqvedgcre
      721 maceefnfge ilmtqvihsi eyclgcisnt asylrlwals lahaqlsdvl wamlmrvglr
      781 vdttygvlll lpvialfavl tifillimeg lsaflhairl hwvefqnkfy vgagtkfvpf
      841 sfsllsskfn nddsva
//
LOCUS       NP_758424               1642 aa            linear   PRI 12-MAR-2023
DEFINITION  cholesterol transporter ABCA5 [Homo sapiens].
ACCESSION   NP_758424
VERSION     NP_758424.1
DBSOURCE    REFSEQ: accession NM_172232.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1642)
  AUTHORS   Raza R, Ullah A, Haider N, Krishin J, Shah M, Khan FU, Abdullah,
            Hansen T, Raza SI, Ahmad W and Basit S.
  TITLE     Exome sequencing reveals the first intragenic deletion in ABCA5
            underlying autosomal recessive hypertrichosis
  JOURNAL   Clin Exp Dermatol 47 (6), 1137-1143 (2022)
   PUBMED   35150007
  REMARK    GeneRIF: Exome sequencing reveals the first intragenic deletion in
            ABCA5 underlying autosomal recessive hypertrichosis.
REFERENCE   2  (residues 1 to 1642)
  AUTHORS   Palmer MA, Smart E and Haslam IS.
  TITLE     Localisation and regulation of cholesterol transporters in the
            human hair follicle: mapping changes across the hair cycle
  JOURNAL   Histochem Cell Biol 155 (5), 529-545 (2021)
   PUBMED   33404706
  REMARK    GeneRIF: Localisation and regulation of cholesterol transporters in
            the human hair follicle: mapping changes across the hair cycle.
REFERENCE   3  (residues 1 to 1642)
  AUTHORS   Ray AG, Choudhury KR, Chakraborty S, Chakravarty D, Chander V, Jana
            B, Siddiqui KN and Bandyopadhyay A.
  TITLE     Novel Mechanism of Cholesterol Transport by ABCA5 in Macrophages
            and Its Role in Dyslipidemia
  JOURNAL   J Mol Biol 432 (17), 4922-4941 (2020)
   PUBMED   32687853
  REMARK    GeneRIF: Novel Mechanism of Cholesterol Transport by ABCA5 in
            Macrophages and Its Role in Dyslipidemia.
REFERENCE   4  (residues 1 to 1642)
  AUTHORS   Fu Y, Hsiao JH, Paxinos G, Halliday GM and Kim WS.
  TITLE     ABCA5 regulates amyloid-beta peptide production and is associated
            with Alzheimer's disease neuropathology
  JOURNAL   J Alzheimers Dis 43 (3), 857-869 (2015)
   PUBMED   25125465
  REMARK    GeneRIF: This report represents the first extensive expression and
            functional study of ABCA5 in the human brain and our data suggest a
            plausible function of ABCA5 in the brain as a cholesterol
            transporter associated with Abeta generation
REFERENCE   5  (residues 1 to 1642)
  AUTHORS   DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G,
            Feenstra H, Silverberg N, Rohena L, Lopez-Cepeda LD, Jobanputra V,
            Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A,
            Warburton D, Levy B, Salas-Alanis JC and Christiano AM.
  TITLE     Mutations in the cholesterol transporter gene ABCA5 are associated
            with excessive hair overgrowth
  JOURNAL   PLoS Genet 10 (5), e1004333 (2014)
   PUBMED   24831815
  REMARK    GeneRIF: our findings support ABCA5 as a gene underlying the
            congenital generalized hypertrichosis terminalis phenotype and
            suggest a novel, previously unrecognized role for this gene in
            regulating hair growth.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1642)
  AUTHORS   Hu Y, Wang M, Veverka K, Garcia FU and Stearns ME.
  TITLE     The ABCA5 protein: a urine diagnostic marker for prostatic
            intraepithelial neoplasia
  JOURNAL   Clin Cancer Res 13 (3), 929-938 (2007)
   PUBMED   17289887
  REMARK    GeneRIF: ABCA5 may have a role in prostatic intraepithelial
            neoplasia
REFERENCE   7  (residues 1 to 1642)
  AUTHORS   Kubo Y, Sekiya S, Ohigashi M, Takenaka C, Tamura K, Nada S, Nishi
            T, Yamamoto A and Yamaguchi A.
  TITLE     ABCA5 resides in lysosomes, and ABCA5 knockout mice develop
            lysosomal disease-like symptoms
  JOURNAL   Mol Cell Biol 25 (10), 4138-4149 (2005)
   PUBMED   15870284
  REMARK    Erratum:[Mol Cell Biol. 2005 Jul;25(13):5786]
REFERENCE   8  (residues 1 to 1642)
  AUTHORS   Petry F, Kotthaus A and Hirsch-Ernst KI.
  TITLE     Cloning of human and rat ABCA5/Abca5 and detection of a human
            splice variant
  JOURNAL   Biochem Biophys Res Commun 300 (2), 343-350 (2003)
   PUBMED   12504089
  REMARK    GeneRIF: Cloning of ABCA5 and detection of a splice variant.
REFERENCE   9  (residues 1 to 1642)
  AUTHORS   Dean M, Rzhetsky A and Allikmets R.
  TITLE     The human ATP-binding cassette (ABC) transporter superfamily
  JOURNAL   Genome Res 11 (7), 1156-1166 (2001)
   PUBMED   11435397
  REMARK    Review article
REFERENCE   10 (residues 1 to 1642)
  AUTHORS   Allikmets R, Gerrard B, Hutchinson A and Dean M.
  TITLE     Characterization of the human ABC superfamily: isolation and
            mapping of 21 new genes using the expressed sequence tags database
  JOURNAL   Hum Mol Genet 5 (10), 1649-1655 (1996)
   PUBMED   8894702
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB096625.1, AJ275973.3,
            AC115085.4, AK058170.1, AC005495.2 and KF456324.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The membrane-associated protein encoded by this gene is a
            member of the superfamily of ATP-binding cassette (ABC)
            transporters. ABC proteins transport various molecules across
            extra- and intracellular membranes. ABC genes are divided into
            seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20,
            and White). This encoded protein is a member of the ABC1 subfamily.
            Members of the ABC1 subfamily comprise the only major ABC subfamily
            found exclusively in multicellular eukaryotes. This gene is
            clustered among 4 other ABC1 family members on 17q24, but neither
            the substrate nor the function of this gene is known. Alternative
            splicing of this gene results in several transcript variants;
            however, not all variants have been fully described. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) represents the shorter
            transcript variant. It contains a distinct 5' UTR compared to
            transcript variant 1, but encodes the same protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The extent of this RefSeq
            transcript is supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.49939.1,
                                           SRR1803617.206054.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392676.8/ ENSP00000376443.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1642
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.3"
     Protein         1..1642
                     /product="cholesterol transporter ABCA5"
                     /note="ATP-binding cassette A5; ATP-binding cassette,
                     sub-family A (ABC1), member 5"
                     /calculated_mol_wt=186378
     Site            32..52
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Region          <84..1618
                     /region_name="rim_protein"
                     /note="retinal-specific rim ABC transporter; TIGR01257"
                     /db_xref="CDD:130324"
     Site            86
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            220..240
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            264..284
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            297..317
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            328..348
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            355..375
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            396..416
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            458
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            866..886
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            967..987
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            996
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            1021..1041
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            1071..1091
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            1102..1122
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            1139..1159
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            1169..1189
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Site            1207..1227
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     Region          1249..1268
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WWZ7.2)"
     CDS             1..1642
                     /gene="ABCA5"
                     /gene_synonym="ABC13; EST90625; HTC3"
                     /coded_by="NM_172232.4:98..5026"
                     /db_xref="CCDS:CCDS11685.1"
                     /db_xref="GeneID:23461"
                     /db_xref="HGNC:HGNC:35"
                     /db_xref="MIM:612503"
ORIGIN      
        1 mstairevgv wrqtrtlllk nylikcrtkk ssvqeilfpl fflfwlilis mmhpnkkyee
       61 vpnielnpmd kftlsnlilg ytpvtnitss imqkvstdhl pdviiteeyt nekemltssl
      121 skpsnfvgvv fkdsmsyelr ffpdmipvss iymdsragcs ksceaaqyws sgftvlqasi
      181 daaiiqlktn vslwkelest kavimgetav veidtfprgv iliylviafs pfgyflaihi
      241 vaekekkike flkimglhdt afwlswvlly tsliflmsll maviatasll fpqsssivif
      301 llfflyglss vffalmltpl fkkskhvgiv effvtvafgf iglmiilies fpkslvwlfs
      361 pfchctfvig iaqvmhledf negasfsnlt agpypliiti imltlnsify vllavyldqv
      421 ipgefglrrs slyflkpsyw skskrnyeel segnvngnis fseiiepvss efvgkeairi
      481 sgiqktyrkk genvealrnl sfdiyegqit allghsgtgk stlmnilcgl cppsdgfasi
      541 yghrvseide mfearkmigi cpqldihfdv ltveenlsil asikgipann iiqevqkvll
      601 dldmqtikdn qakklsggqk rklslgiavl gnpkilllde ptagmdpcsr hivwnllkyr
      661 kanrvtvfst hfmdeadila drkavisqgm lkcvgssmfl kskwgigyrl smyidkycat
      721 eslsslvkqh ipgatllqqn dqqlvyslpf kdmdkfsglf saldshsnlg visygvsmtt
      781 ledvflklev eaeidqadys vftqqpleee mdsksfdeme qsllilsetk aalvstmslw
      841 kqqmytiakf hfftlkresk svrsvlllll ifftvqifmf lvhhsfknav vpiklvpdly
      901 flkpgdkphk yktslllqns adsdisdlis fftsqnimvt mindsdyvsv aphsaalnvm
      961 hsekdyvfaa vfnstmvysl pilvniisny ylyhlnvtet iqiwstpffq eitdivfkie
     1021 lyfqaallgi ivtamppyfa menaenhkik aytqlklsgl lpsaywigqa vvdiplffii
     1081 lilmlgslla fhyglyfytv kflavvfcli gyvpsvilft yiasftfkki lntkefwsfi
     1141 ysvaalacia iteitffmgy tiatilhyaf ciiipiypll gclisfikis wknvrknvdt
     1201 ynpwdrlsva vispylqcvl wifllqyyek kyggrsirkd pffrnlstks knrklpeppd
     1261 nedededvka erlkvkelmg cqcceekpsi mvsnlhkeyd dkkdfllsrk vkkvatkyis
     1321 fcvkkgeilg llgpngagks tiinilvgdi eptsgqvflg dyssetsedd dslkcmgycp
     1381 qinplwpdtt lqehfeiyga vkgmsasdmk evisrithal dlkehlqktv kklpagikrk
     1441 lcfalsmlgn pqitlldeps tgmdpkakqh mwrairtafk nrkraailtt hymeeaeavc
     1501 drvaimvsgq lrcigtvqhl kskfgkgyfl eiklkdwien levdrlqrei qyifpnasrq
     1561 esfssilayk ipkedvqsls qsffkleeak hafaieeysf sqatleqvfv eltkeqeeed
     1621 nscgtlnstl wwertqedrv vf
//
LOCUS       NP_001093392            1137 aa            linear   PRI 14-MAR-2023
DEFINITION  putative bifunctional UDP-N-acetylglucosamine transferase and
            deubiquitinase ALG13 isoform 1 [Homo sapiens].
ACCESSION   NP_001093392
VERSION     NP_001093392.1
DBSOURCE    REFSEQ: accession NM_001099922.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1137)
  AUTHORS   Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T,
            Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogne B, Deb
            W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI,
            Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ
            and Sobering AK.
  TITLE     ALG13 X-linked intellectual disability: New variants, glycosylation
            analysis, and expanded phenotypes
  JOURNAL   J Inherit Metab Dis 44 (4), 1001-1012 (2021)
   PUBMED   33734437
  REMARK    GeneRIF: ALG13 X-linked intellectual disability: New variants,
            glycosylation analysis, and expanded phenotypes.
REFERENCE   2  (residues 1 to 1137)
  AUTHORS   Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem
            A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA,
            Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He
            M, Edmondson AC and Lam C.
  CONSRTM   University of Washington Center for Mendelian Genomics (UW-CMG)
  TITLE     Expanding the phenotype, genotype and biochemical knowledge of
            ALG3-CDG
  JOURNAL   J Inherit Metab Dis 44 (4), 987-1000 (2021)
   PUBMED   33583022
  REMARK    GeneRIF: Expanding the phenotype, genotype and biochemical
            knowledge of ALG3-CDG.
REFERENCE   3  (residues 1 to 1137)
  AUTHORS   Datta AN, Bahi-Buisson N, Bienvenu T, Buerki SE, Gardiner F, Cross
            JH, Heron B, Kaminska A, Korff CM, Lepine A, Lesca G, McTague A,
            Mefford HC, Mignot C, Milh M, Piton A, Pressler RM, Ruf S, Sadleir
            LG, de Saint Martin A, Van Gassen K, Verbeek NE, Ville D,
            Villeneuve N, Zacher P, Scheffer IE and Lemke JR.
  TITLE     The phenotypic spectrum of X-linked, infantile onset ALG13-related
            developmental and epileptic encephalopathy
  JOURNAL   Epilepsia 62 (2), 325-334 (2021)
   PUBMED   33410528
  REMARK    GeneRIF: The phenotypic spectrum of X-linked, infantile onset
            ALG13-related developmental and epileptic encephalopathy.
REFERENCE   4  (residues 1 to 1137)
  AUTHORS   Madaan P, Negi S, Sharma R, Kaur A and Sahu JK.
  TITLE     X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy
            in Girls
  JOURNAL   Indian J Pediatr 86 (11), 1072-1073 (2019)
   PUBMED   31444733
  REMARK    GeneRIF: X-Linked ALG13 Gene Variant as a Cause of Epileptic
            Encephalopathy in Girls.
REFERENCE   5  (residues 1 to 1137)
  AUTHORS   Hamici S, Bastaki F and Khalifa M.
  TITLE     Exome sequence identified a c.320A > G ALG13 variant in a female
            with infantile epileptic encephalopathy with normal glycosylation
            and random X inactivation: Review of the literature
  JOURNAL   Eur J Med Genet 60 (10), 541-547 (2017)
   PUBMED   28778787
  REMARK    GeneRIF: A female patient heterozygous for ALG13 Asn107Ser variant
            presented with infantile spasms, developmental delay, and
            dysmorphic features.  The patient showed normal pattern of
            glycosylated transferrin and random pattern of X-inactivation.
            Review article
REFERENCE   6  (residues 1 to 1137)
  AUTHORS   Esposito T, Lea RA, Maher BH, Moses D, Cox HC, Magliocca S, Angius
            A, Nyholt DR, Titus T, Kay T, Gray NA, Rastaldi MP, Parnham A,
            Gianfrancesco F and Griffiths LR.
  TITLE     Unique X-linked familial FSGS with co-segregating heart block
            disorder is associated with a mutation in the NXF5 gene
  JOURNAL   Hum Mol Genet 22 (18), 3654-3666 (2013)
   PUBMED   23686279
REFERENCE   7  (residues 1 to 1137)
  AUTHORS   Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K,
            Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Korner C,
            Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C,
            Wevers RA, Morava E, Veltman J and Lefeber DJ.
  TITLE     Gene identification in the congenital disorders of glycosylation
            type I by whole-exome sequencing
  JOURNAL   Hum Mol Genet 21 (19), 4151-4161 (2012)
   PUBMED   22492991
REFERENCE   8  (residues 1 to 1137)
  AUTHORS   Averbeck N, Keppler-Ross S and Dean N.
  TITLE     Membrane topology of the Alg14 endoplasmic reticulum UDP-GlcNAc
            transferase subunit
  JOURNAL   J Biol Chem 282 (40), 29081-29088 (2007)
   PUBMED   17686769
REFERENCE   9  (residues 1 to 1137)
  AUTHORS   Gao XD, Tachikawa H, Sato T, Jigami Y and Dean N.
  TITLE     Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic
            reticulum to form a novel bipartite UDP-N-acetylglucosamine
            transferase required for the second step of N-linked glycosylation
  JOURNAL   J Biol Chem 280 (43), 36254-36262 (2005)
   PUBMED   16100110
  REMARK    GeneRIF: ALG13 and ALG14 form a functional endoplasmic reticulum
            UDP-N-acetylglucosamine transferase
REFERENCE   10 (residues 1 to 1137)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF699152.1, AK302729.1,
            AK304712.1, DB516751.3 and BQ015240.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a subunit of a
            bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes
            with asparagine-linked glycosylation 14 homolog to form a
            functional UDP-GlcNAc glycosyltransferase that catalyzes the second
            sugar addition of the highly conserved oligosaccharide precursor in
            endoplasmic reticulum N-linked glycosylation. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2009].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302729.1, AK304712.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394780.8/ ENSP00000378260.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1137
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     Protein         1..1137
                     /product="putative bifunctional UDP-N-acetylglucosamine
                     transferase and deubiquitinase ALG13 isoform 1"
                     /EC_number="3.4.19.12"
                     /EC_number="2.4.1.141"
                     /note="hematopoietic stem/progenitor cells protein MDS031;
                     UDP-N-acetylglucosamine transferase subunit ALG13 homolog;
                     glycosyltransferase 28 domain-containing protein 1; tudor
                     domain containing 13; asparagine-linked glycosylation 13
                     homolog; N-acetylglucosaminyldiphosphodolichol
                     N-acetylglucosaminyltransferase; putative bifunctional
                     UDP-N-acetylglucosamine transferase and deubiquitinase
                     ALG13"
                     /calculated_mol_wt=125926
     Region          1..125
                     /region_name="Glycosyltransferase activity"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NP73.2)"
     Region          4..>120
                     /region_name="Glycosyltransferase_GTB-type"
                     /note="glycosyltransferase family 1 and related proteins
                     with GTB topology; cl10013"
                     /db_xref="CDD:447877"
     Region          126..400
                     /region_name="Deubiquitinase activity"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NP73.2)"
     Region          222..351
                     /region_name="OTU_ALG13"
                     /note="OTU (ovarian tumor) domain of bifunctional
                     UDP-N-acetylglucosamine transferase and deubiquitinase
                     ALG13; cd22795"
                     /db_xref="CDD:438616"
     Site            order(242,287,290,297..300,326,328,340,344..346)
                     /site_type="other"
                     /note="putative polypeptide substrate binding site
                     [polypeptide binding]"
                     /db_xref="CDD:438616"
     Region          488..567
                     /region_name="Tudor_TDRD13"
                     /note="Tudor domain found in Tudor domain-containing
                     protein 13 (TDRD13); cd20447"
                     /db_xref="CDD:410518"
     Site            order(503,508,510,528,531,533)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:410518"
     Region          641..673
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NP73.2)"
     Region          911..974
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NP73.2)"
     CDS             1..1137
                     /gene="ALG13"
                     /gene_synonym="CDG1S; CXorf45; DEE36; EIEE36; GLT28D1;
                     MDS031; TDRD13; YGL047W"
                     /coded_by="NM_001099922.3:50..3463"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS55477.1"
                     /db_xref="GeneID:79868"
                     /db_xref="HGNC:HGNC:30881"
                     /db_xref="MIM:300776"
ORIGIN      
        1 mkcvfvtvgt tsfddliacv sapdslqkie slgynrlilq igrgtvvpep fstesftldv
       61 yrykdslked iqkadlvish agagscletl ekgkplvvvi neklmnnhql elakqlhkeg
      121 hlfyctcrvl tcpgqaksia sapgkcqdsa altstafsgl dfgllsgylh kqalvtathp
      181 tctllfpsch affplpltpt lykmhkgwkn ycsqkslnea smdeylgslg lfrkltakda
      241 sclfraiseq lfcsqvhhle irkacvsymr enqqtfesyv egsfekyler lgdpkesagq
      301 leiralsliy nrdfilyrfp gkpptyvtdn gyedkillcy sssghydsvy skqfqssaav
      361 cqavlyeily kdvfvvdeee lktaiklfrs gskknrnnav tgsedahtdy kssnqnrmee
      421 wgacynaeni pegynkgtee tkspenpskm pfpykvlkal dpeiyrnvef dvwldsrkel
      481 qksdymeyag rqyylgdkcq vclesegryy nahiqevgne nnsvtvfiee laekhvvpla
      541 nlkpvtqvms vpawnampsr kgrgyqkmpg gyvpeivise mdikqqkkmf kkirgkevym
      601 tmaygkgdpl lpprlqhsmh yghdppmhys qtagnvmsne hfhpqhpspr qgrgygmprn
      661 ssrfinrhnm pgpkvdfypg pgkrccqsyd nfsyrsrsfr rshrqmscvn kesqygftpg
      721 ngqmprglee titfyeveeg detayptlpn hggpstmvpa tsgycvgrrg hssgkqtlnl
      781 eegngqseng ryheeylyra epdyetsgvy sttastanls lqdrkscsms pqdtvtsyny
      841 pqkmmgniaa vaascannvp apvlsngaaa nqaisttsvs sqnaiqplfv sppthgrpvi
      901 aspsypchsa iphagaslpp pppppppppp pppppppppp pppppaldvg etsnlqpppp
      961 lppppyscdp sgsdlpqdtk vlqyyfnlgl qcyyhsywhs mvyvpqmqqq lhvenypvyt
     1021 epplvdqtvp qcysevrred giqaeasand tfpnadsssv phgavyypvm sdpygqpplp
     1081 gfdsclpvvp dyscvppwhp vgtayggssq ihgainpgpi gciapsppas hyvpqgm
//
LOCUS       NP_006054                606 aa            linear   PRI 14-MAR-2023
DEFINITION  kelch-like protein 41 [Homo sapiens].
ACCESSION   NP_006054
VERSION     NP_006054.2
DBSOURCE    REFSEQ: accession NM_006063.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 606)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 606)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 606)
  AUTHORS   Marttila M, Hanif M, Lemola E, Nowak KJ, Laitila J, Gronholm M,
            Wallgren-Pettersson C and Pelin K.
  TITLE     Nebulin interactions with actin and tropomyosin are altered by
            disease-causing mutations
  JOURNAL   Skelet Muscle 4, 15 (2014)
   PUBMED   25110572
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 606)
  AUTHORS   Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M,
            Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton
            ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK,
            Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ,
            Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG
            and Beggs AH.
  TITLE     Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated
            Ubiquitination as an Alternate Pathway to Myofibrillar Disruption
            in Nemaline Myopathy
  JOURNAL   Am J Hum Genet 93 (6), 1108-1117 (2013)
   PUBMED   24268659
  REMARK    GeneRIF: Mutations in KLHL41 showed phenotype-genotype correlation:
            Frameshift mutations resulted in severe phenotypes with neonatal
            death, whereas missense changes resulted in impaired motor function
            with survival into late childhood and/or early adulthood.
REFERENCE   5  (residues 1 to 606)
  AUTHORS   Dhanoa BS, Cogliati T, Satish AG, Bruford EA and Friedman JS.
  TITLE     Update on the Kelch-like (KLHL) gene family
  JOURNAL   Hum Genomics 7 (1), 13 (2013)
   PUBMED   23676014
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 606)
  AUTHORS   Zhang DD, Lo SC, Sun Z, Habib GM, Lieberman MW and Hannink M.
  TITLE     Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for
            Cul3, targets Keap1 for degradation by a proteasome-independent
            pathway
  JOURNAL   J Biol Chem 280 (34), 30091-30099 (2005)
   PUBMED   15983046
REFERENCE   7  (residues 1 to 606)
  AUTHORS   Lim DS, Roberts R and Marian AJ.
  TITLE     Expression profiling of cardiac genes in human hypertrophic
            cardiomyopathy: insight into the pathogenesis of phenotypes
  JOURNAL   J Am Coll Cardiol 38 (4), 1175-1180 (2001)
   PUBMED   11583900
REFERENCE   8  (residues 1 to 606)
  AUTHORS   Spence HJ, Johnston I, Ewart K, Buchanan SJ, Fitzgerald U and
            Ozanne BW.
  TITLE     Krp1, a novel kelch related protein that is involved in pseudopod
            elongation in transformed cells
  JOURNAL   Oncogene 19 (10), 1266-1276 (2000)
   PUBMED   10713668
REFERENCE   9  (residues 1 to 606)
  AUTHORS   Taylor A, Obholz K, Linden G, Sadiev S, Klaus S and Carlson KD.
  TITLE     DNA sequence and muscle-specific expression of human sarcosin
            transcripts
  JOURNAL   Mol Cell Biochem 183 (1-2), 105-112 (1998)
   PUBMED   9655184
REFERENCE   10 (residues 1 to 606)
  AUTHORS   North,K.N. and Ryan,M.M.
  TITLE     Nemaline Myopathy - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301465
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF333387.1, BC006534.2,
            AF056929.1 and AA194290.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 23, 2004 this sequence version replaced NP_006054.1.
            
            Summary: This gene is a member of the kelch-like family. The
            encoded protein contains a BACK domain, a BTB/POZ domain, and 5
            Kelch repeats. This protein is thought to function in skeletal
            muscle development and maintenance. Mutations in this gene have
            been associated with nemaline myopathy (NM), a rare congenital
            muscle disorder. [provided by RefSeq, Mar 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.230697.1,
                                           SRR1660809.122045.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000284669.2/ ENSP00000284669.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..606
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     Protein         1..606
                     /product="kelch-like protein 41"
                     /note="sarcomeric muscle protein; kel-like protein 23;
                     kelch-related protein 1; kelch repeat and BTB (POZ) domain
                     containing 10"
                     /calculated_mol_wt=67906
     Site            3
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ER30; propagated from
                     UniProtKB/Swiss-Prot (O60662.2)"
     Region          6..135
                     /region_name="BTB_POZ_KLHL41_KBTBD10"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in Kelch-like
                     protein 41 (KLHL41); cd18341"
                     /db_xref="CDD:349650"
     Region          39..578
                     /region_name="PHA03098"
                     /note="kelch-like protein; Provisional"
                     /db_xref="CDD:222983"
     Region          335..384
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          346..398
                     /region_name="Kelch 1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60662.2)"
     Region          388..433
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          399..447
                     /region_name="Kelch 2"
                     /note="propagated from UniProtKB/Swiss-Prot (O60662.2)"
     Region          437..482
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          448..495
                     /region_name="Kelch 3"
                     /note="propagated from UniProtKB/Swiss-Prot (O60662.2)"
     Region          485..530
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          497..542
                     /region_name="Kelch 4"
                     /note="propagated from UniProtKB/Swiss-Prot (O60662.2)"
     Region          544..599
                     /region_name="Kelch 5"
                     /note="propagated from UniProtKB/Swiss-Prot (O60662.2)"
     CDS             1..606
                     /gene="KLHL41"
                     /gene_synonym="KBTBD10; Krp1; SARCOSIN"
                     /coded_by="NM_006063.3:78..1898"
                     /db_xref="CCDS:CCDS2234.1"
                     /db_xref="GeneID:10324"
                     /db_xref="HGNC:HGNC:16905"
                     /db_xref="MIM:607701"
ORIGIN      
        1 mdsqrelaee lrlyqstllq dglkdlldek kfidctlkag dkslpchrli lsacspyfre
       61 yflseideak kkevvldnvd paildliiky lysasidlnd gnvqdifala srfqipsvft
      121 vcvsylqkrl apgnclailr lgllldcprl aisarefvsd rfvqickeed fmqlspqeli
      181 svisndslnv ekeeavfeav mkwvrtdken rvknlsevfd cirfrlmtek yfkdhvekdd
      241 iiksnpdlqk kikvlkdafa gklpepskna aktgagevng dvgdedllpg ylndiprhgm
      301 fvkdlillvn dtaavaydpt enecyltala eqiprnhssi vtqqnqiyvv gglyvdeenk
      361 dqplqsyffq ldsiasewvg lpplpsarcl fglgevddki yvvagkdlqt easldsvlcy
      421 dpvaakwnev kklpikvygh nvishkgmiy clggktddkk ctnrvfifnp kkgdwkdlap
      481 mkiprsmfgv avhkgkivia ggvtedglsa sveafdlttn kwdvmtefpq erssislvsl
      541 agslyaiggf amiqleskef aptevndiwk yeddkkewag mlkeiryasg asclatrlnl
      601 fklskl
//
LOCUS       NP_001027581             414 aa            linear   PRI 15-MAR-2023
DEFINITION  2'-5'-oligoadenylate synthase 1 isoform 3 [Homo sapiens].
ACCESSION   NP_001027581
VERSION     NP_001027581.1
DBSOURCE    REFSEQ: accession NM_001032409.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 414)
  AUTHORS   Li X, Shen Y, Xu X, Guo G, Chen Y, Wei Q, Li H, He K and Liu C.
  TITLE     Genomic and RNA-Seq profiling of patients with HFrEF unraveled OAS1
            mutation and aggressive expression
  JOURNAL   Int J Cardiol 375, 44-54 (2023)
   PUBMED   36414043
  REMARK    GeneRIF: Genomic and RNA-Seq profiling of patients with HFrEF
            unraveled OAS1 mutation and aggressive expression.
REFERENCE   2  (residues 1 to 414)
  AUTHORS   Gokul A, Arumugam T and Ramsuran V.
  TITLE     Genetic Ethnic Differences in Human 2'-5'-Oligoadenylate Synthetase
            and Disease Associations: A Systematic Review
  JOURNAL   Genes (Basel) 14 (2), 527 (2023)
   PUBMED   36833454
  REMARK    GeneRIF: Genetic Ethnic Differences in Human 2'-5'-Oligoadenylate
            Synthetase and Disease Associations: A Systematic Review.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 414)
  AUTHORS   Kjaer KH, Pahus J, Hansen MF, Poulsen JB, Christensen EI, Justesen
            J and Martensen PM.
  TITLE     Mitochondrial localization of the OAS1 p46 isoform associated with
            a common single nucleotide polymorphism
  JOURNAL   BMC Cell Biol 15, 33 (2014)
   PUBMED   25205466
  REMARK    GeneRIF: The OAS1 p46 isoform localizes to the mitochondria.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 414)
  AUTHORS   Noguchi S, Hamano E, Matsushita I, Hijikata M, Ito H, Nagase T and
            Keicho N.
  TITLE     Differential effects of a common splice site polymorphism on the
            generation of OAS1 variants in human bronchial epithelial cells
  JOURNAL   Hum Immunol 74 (3), 395-401 (2013)
   PUBMED   23220500
  REMARK    GeneRIF: Findings provide insights into the potential role of OAS1
            polymorphisms in respiratory infection.
REFERENCE   5  (residues 1 to 414)
  AUTHORS   Kristiansen H, Gad HH, Eskildsen-Larsen S, Despres P and Hartmann
            R.
  TITLE     The oligoadenylate synthetase family: an ancient protein family
            with multiple antiviral activities
  JOURNAL   J Interferon Cytokine Res 31 (1), 41-47 (2011)
   PUBMED   21142819
  REMARK    Review article
REFERENCE   6  (residues 1 to 414)
  AUTHORS   Bonnevie-Nielsen V, Field LL, Lu S, Zheng DJ, Li M, Martensen PM,
            Nielsen TB, Beck-Nielsen H, Lau YL and Pociot F.
  TITLE     Variation in antiviral 2',5'-oligoadenylate synthetase (2'5'AS)
            enzyme activity is controlled by a single-nucleotide polymorphism
            at a splice-acceptor site in the OAS1 gene
  JOURNAL   Am J Hum Genet 76 (4), 623-633 (2005)
   PUBMED   15732009
  REMARK    GeneRIF: This genetic polymorphism makes OAS1 an excellent
            candidate for a human gene that influences host susceptibility to
            viral infection.
REFERENCE   7  (residues 1 to 414)
  AUTHORS   Aissouni Y, Perez C, Calmels B and Benech PD.
  TITLE     The cleavage/polyadenylation activity triggered by a U-rich motif
            sequence is differently required depending on the poly(A) site
            location at either the first or last 3'-terminal exon of the 2'-5'
            oligo(A) synthetase gene
  JOURNAL   J Biol Chem 277 (39), 35808-35814 (2002)
   PUBMED   12082089
  REMARK    GeneRIF: sequence motifs in OAS1 regulate polyadenylation
REFERENCE   8  (residues 1 to 414)
  AUTHORS   Ghosh SK, Kusari J, Bandyopadhyay SK, Samanta H, Kumar R and Sen
            GC.
  TITLE     Cloning, sequencing, and expression of two murine
            2'-5'-oligoadenylate synthetases. Structure-function relationships
  JOURNAL   J Biol Chem 266 (23), 15293-15299 (1991)
   PUBMED   1651324
REFERENCE   9  (residues 1 to 414)
  AUTHORS   Benech P, Vigneron M, Peretz D, Revel M and Chebath J.
  TITLE     Interferon-responsive regulatory elements in the promoter of the
            human 2',5'-oligo(A) synthetase gene
  JOURNAL   Mol Cell Biol 7 (12), 4498-4504 (1987)
   PUBMED   2830497
REFERENCE   10 (residues 1 to 414)
  AUTHORS   Benech,P., Mory,Y., Revel,M. and Chebath,J.
  TITLE     Structure of two forms of the interferon-induced (2'-5') oligo A
            synthetase of human cells based on cDNAs and gene sequences
  JOURNAL   EMBO J 4 (9), 2249-2256 (1985)
   PUBMED   2416561
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB112445.1, AJ629455.1,
            AY730628.1 and BF055326.1.
            
            Summary: This interferon-induced gene encodes a protein that
            synthesizes 2',5'-oligoadenylates (2-5As). This protein plays a key
            role in innate cellular antiviral response, and has been implicated
            in other cellular processes like cell growth and apoptosis.
            Alternative splicing results in multiple transcript variants with
            different enzymatic activities. Polymorphisms in this gene have
            been associated with susceptibility to viral infection, including
            SARS-CoV-2, and diabetes mellitus, type 1. This gene is located in
            a cluster of related genes on chromosome 12. [provided by RefSeq,
            May 2022].
            
            Transcript Variant: This variant (3) uses an alternate splice site
            in the 3' coding region, which results in a frameshift, compared to
            variant 1. It encodes isoform 3 (also known as p48), which has a
            longer, distinct C-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.82027.1,
                                           DRR138524.1226395.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related                :: involved in immune response
                                                  or antiviral activity
            gene product(s) localized to mito. :: PMID: 25205466
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..414
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.13"
     Protein         1..414
                     /product="2'-5'-oligoadenylate synthase 1 isoform 3"
                     /EC_number="2.7.7.84"
                     /note="E16 (2'-5') oligo A synthetase;
                     2'-5'-oligoadenylate synthetase 1, 40/46kDa;
                     2'-5'-oligoisoadenylate synthetase 1; 2',5'-oligo A
                     synthetase 1; 2-5A synthetase 1; 2'-5'-oligoadenylate
                     synthase 1; 2-5A synthase 1; (2-5')oligo(A) synthase 1;
                     2'-5'-oligoadenylate synthase 1 isoform p42"
                     /calculated_mol_wt=47277
     Region          13..60
                     /region_name="Interaction with dsRNA.
                     /evidence=ECO:0000269|PubMed:23319625,
                     ECO:0007744|PDB:4IG8"
                     /note="propagated from UniProtKB/Swiss-Prot (P00973.4)"
     Region          29..211
                     /region_name="NT_2-5OAS_ClassI-CCAase"
                     /note="Nucleotidyltransferase (NT) domain of
                     2'5'-oligoadenylate (2-5A)synthetase (2-5OAS) and class I
                     CCA-adding enzyme; cd05400"
                     /db_xref="CDD:143390"
     Site            order(61..63,66,68..70,75,77,123..124,131,148,197,201,204)
                     /site_type="active"
                     /db_xref="CDD:143390"
     Site            order(62..63,75,77,124,197,201,204)
                     /site_type="other"
                     /note="NTP binding site [chemical binding]"
                     /db_xref="CDD:143390"
     Site            order(75,77,148)
                     /site_type="metal-binding"
                     /note="metal binding triad [ion binding]"
                     /db_xref="CDD:143390"
     Site            158
                     /site_type="other"
                     /note="Interaction with dsRNA.
                     /evidence=ECO:0007744|PDB:4IG8; propagated from
                     UniProtKB/Swiss-Prot (P00973.4)"
     Region          163..343
                     /region_name="OAS1_C"
                     /note="2'-5'-oligoadenylate synthetase 1, domain 2,
                     C-terminus; pfam10421"
                     /db_xref="CDD:431275"
     Region          200..210
                     /region_name="Interaction with dsRNA.
                     /evidence=ECO:0000269|PubMed:23319625,
                     ECO:0007744|PDB:4IG8"
                     /note="propagated from UniProtKB/Swiss-Prot (P00973.4)"
     CDS             1..414
                     /gene="OAS1"
                     /gene_synonym="E18/E16; IFI-4; IMD100; OIAS; OIASI"
                     /coded_by="NM_001032409.3:79..1323"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS31905.1"
                     /db_xref="GeneID:4938"
                     /db_xref="HGNC:HGNC:8086"
                     /db_xref="MIM:164350"
ORIGIN      
        1 mmdlrntpak sldkfiedyl lpdtcfrmqi nhaidiicgf lkercfrgss ypvcvskvvk
       61 ggssgkgttl rgrsdadlvv flsplttfqd qlnrrgefiq eirrqleacq rerafsvkfe
      121 vqaprwgnpr alsfvlsslq lgegvefdvl pafdalgqlt ggykpnpqiy vklieectdl
      181 qkegefstcf telqrdflkq rptklkslir lvkhwyqnck kklgklppqy alelltvyaw
      241 ergsmkthfn taqgfrtvle lvinyqqlci ywtkyydfkn piiekylrrq ltkprpvild
      301 padptgnlgg gdpkgwrqla qeaeawlnyp cfknwdgspv sswilltqht pgsihptgrr
      361 gldlhhplna saswgkglqc yldqflhfqv glliqrgqss svswciiqdr tqvs
//
LOCUS       NP_001337667             688 aa            linear   PRI 19-MAR-2023
DEFINITION  SRSF protein kinase 2 isoform b [Homo sapiens].
ACCESSION   NP_001337667 XP_016868055
VERSION     NP_001337667.1
DBSOURCE    REFSEQ: accession NM_001350738.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 688)
  AUTHORS   Fonteneau G, Redding A, Hoag-Lee H, Sim ES, Heinrich S, Gaida MM
            and Grabocka E.
  TITLE     Stress Granules Determine the Development of Obesity-Associated
            Pancreatic Cancer
  JOURNAL   Cancer Discov 12 (8), 1984-2005 (2022)
   PUBMED   35674408
  REMARK    GeneRIF: Stress Granules Determine the Development of
            Obesity-Associated Pancreatic Cancer.
REFERENCE   2  (residues 1 to 688)
  AUTHORS   Zheng X, Sun Z, Yu L, Shi D, Zhu M, Yao H and Li L.
  TITLE     Interactome Analysis of the Nucleocapsid Protein of SARS-CoV-2
            Virus
  JOURNAL   Pathogens 10 (9), 1155 (2021)
   PUBMED   34578187
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 688)
  AUTHORS   Khatun M, Sur S, Steele R, Ray R and Ray RB.
  TITLE     Inhibition of Long Noncoding RNA Linc-Pint by Hepatitis C Virus in
            Infected Hepatocytes Enhances Lipogenesis
  JOURNAL   Hepatology 74 (1), 41-54 (2021)
   PUBMED   33236406
  REMARK    GeneRIF: Inhibition of Long Noncoding RNA Linc-Pint by Hepatitis C
            Virus in Infected Hepatocytes Enhances Lipogenesis.
REFERENCE   4  (residues 1 to 688)
  AUTHORS   Liu H, Gong Z, Li K, Zhang Q, Xu Z and Xu Y.
  TITLE     SRPK1/2 and PP1alpha exert opposite functions by modulating
            SRSF1-guided MKNK2 alternative splicing in colon adenocarcinoma
  JOURNAL   J Exp Clin Cancer Res 40 (1), 75 (2021)
   PUBMED   33602301
  REMARK    GeneRIF: SRPK1/2 and PP1alpha exert opposite functions by
            modulating SRSF1-guided MKNK2 alternative splicing in colon
            adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 688)
  AUTHORS   Yaron,T.M., Heaton,B.E., Levy,T.M., Johnson,J.L., Jordan,T.X.,
            Cohen,B.M., Kerelsky,A., Lin,T.Y., Liberatore,K.M., Bulaon,D.K.,
            Kastenhuber,E.R., Mercadante,M.N., Shobana-Ganesh,K., He,L.,
            Schwartz,R.E., Chen,S., Weinstein,H., Elemento,O., Piskounova,E.,
            Nilsson-Payant,B.E., Lee,G., Trimarco,J.D., Burke,K.N.,
            Hamele,C.E., Chaparian,R.R., Harding,A.T., Tata,A., Zhu,X.,
            Tata,P.R., Smith,C.M., Possemato,A.P., Tkachev,S.L., Hornbeck,P.V.,
            Beausoleil,S.A., Anand,S.K., Aguet,F., Getz,G., Davidson,A.D.,
            Heesom,K., Kavanagh-Williamson,M., Matthews,D., tenOever,B.R.,
            Cantley,L.C., Blenis,J. and Heaton,N.S.
  TITLE     The FDA-approved drug Alectinib compromises SARS-CoV-2 nucleocapsid
            phosphorylation and inhibits viral infection in vitro
  JOURNAL   bioRxiv (2020)
   PUBMED   32817937
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 688)
  AUTHORS   Koizumi J, Okamoto Y, Onogi H, Mayeda A, Krainer AR and Hagiwara M.
  TITLE     The subcellular localization of SF2/ASF is regulated by direct
            interaction with SR protein kinases (SRPKs)
  JOURNAL   J Biol Chem 274 (16), 11125-11131 (1999)
   PUBMED   10196197
REFERENCE   7  (residues 1 to 688)
  AUTHORS   Wang HY, Lin W, Dyck JA, Yeakley JM, Songyang Z, Cantley LC and Fu
            XD.
  TITLE     SRPK2: a differentially expressed SR protein-specific kinase
            involved in mediating the interaction and localization of pre-mRNA
            splicing factors in mammalian cells
  JOURNAL   J Cell Biol 140 (4), 737-750 (1998)
   PUBMED   9472028
REFERENCE   8  (residues 1 to 688)
  AUTHORS   Kuroyanagi N, Onogi H, Wakabayashi T and Hagiwara M.
  TITLE     Novel SR-protein-specific kinase, SRPK2, disassembles nuclear
            speckles
  JOURNAL   Biochem Biophys Res Commun 242 (2), 357-364 (1998)
   PUBMED   9446799
REFERENCE   9  (residues 1 to 688)
  AUTHORS   Bedford MT, Chan DC and Leder P.
  TITLE     FBP WW domains and the Abl SH3 domain bind to a specific class of
            proline-rich ligands
  JOURNAL   EMBO J 16 (9), 2376-2383 (1997)
   PUBMED   9171351
REFERENCE   10 (residues 1 to 688)
  AUTHORS   Gui JF, Lane WS and Fu XD.
  TITLE     A serine kinase regulates intracellular localization of splicing
            factors in the cell cycle
  JOURNAL   Nature 369 (6482), 678-682 (1994)
   PUBMED   8208298
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073138.3, AC004884.1 and AC005070.1.
            On Apr 22, 2017 this sequence version replaced XP_016868055.1.
            
            Transcript Variant: This variant (4), as well as variants 2 and 3,
            encodes isoform b.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.2183805.1,
                                           SRR14038197.2415672.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..688
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.3"
     Protein         1..688
                     /product="SRSF protein kinase 2 isoform b"
                     /EC_number="2.7.11.1"
                     /note="SFRS protein kinase 2; serine/arginine-rich
                     splicing factor kinase 2; SR protein kinase 2;
                     serine/threonine-protein kinase SRPK2; serine kinase
                     SRPK2; SR-protein-specific kinase 2; serine/arginine-rich
                     protein-specific kinase 2"
                     /calculated_mol_wt=77396
     Region          1..65
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P78362.3)"
     Site            52
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Region          68..>256
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:419665"
     Site            order(87..90,93,95,108,110,146,166..169,214,218..219,221)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270870"
     Site            139..140
                     /site_type="cleavage"
                     /note="Cleavage, by caspase-3.
                     /evidence=ECO:0000269|PubMed:21056976; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Region          239..277
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P78362.3)"
     Region          329..444
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P78362.3)"
     Region          <341..383
                     /region_name="2A1904"
                     /note="K+-dependent Na+/Ca+ exchanger; TIGR00927"
                     /db_xref="CDD:273344"
     Site            380
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P78362.3)"
     Site            403..404
                     /site_type="cleavage"
                     /note="Cleavage, by caspase-3.
                     /evidence=ECO:0000269|PubMed:21056976; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Region          469..501
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P78362.3)"
     Site            475
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O54781; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Site            478
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:O54781; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Site            484
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O54781; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Site            486
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O54781; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Site            490
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O54781; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Site            492
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by PKB/AKT1.
                     /evidence=ECO:0000269|PubMed:19592491; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Site            494
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P78362.3)"
     Site            497
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P78362.3)"
     Region          <504..686
                     /region_name="PKc_like"
                     /note="Protein Kinases, catalytic domain; cl21453"
                     /db_xref="CDD:419665"
     Site            588
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by CK2. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P78362.3)"
     CDS             1..688
                     /gene="SRPK2"
                     /gene_synonym="SFRSK2"
                     /coded_by="NM_001350738.2:213..2279"
                     /note="isoform b is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS5735.1"
                     /db_xref="GeneID:6733"
                     /db_xref="HGNC:HGNC:11306"
                     /db_xref="MIM:602980"
ORIGIN      
        1 msvnseksss serpepqqka plvppppppp pppppplpdp tppepeeeil gsddeeqedp
       61 adyckggyhp vkigdlfngr yhvirklgwg hfstvwlcwd mqgkrfvamk vvksaqhyte
      121 taldeikllk cvresdpsdp nkdmvvqlid dfkisgmngi hvcmvfevlg hhllkwiiks
      181 nyqglpvrcv ksiirqvlqg ldylhskcki ihtdikpeni lmcvddayvr rmaaeatewq
      241 kagapppsgs avstapqqkp igkisknkkk klkkkqkrqa ellekrlqei eelereaerk
      301 iieenitsaa psndqdgeyc pevklkttgl eeaaeaetak dngeaedqee kedaekenie
      361 kdeddvdqel anidptwies pktnghieng pfsleqqldd edddeedcpn peeynldepn
      421 aesdytysss yeqfngelpn grhkipesqf pefstslfsg slepvacgsv lsegsplteq
      481 eesspshdrs rtvsasstgd lpkaktraad llvnpldprn adkirvkiad lgnacwvhkh
      541 ftediqtrqy rsievligag ystpadiwst acmafelatg dylfephsge dysrdedhia
      601 hiiellgsip rhfalsgkys reffnrrgel rhitklkpws lfdvlvekyg wphedaaqft
      661 dflipmlemv pekrasagec lrhpwlns
//
LOCUS       NP_001317507            1387 aa            linear   PRI 19-MAR-2023
DEFINITION  copper-transporting ATPase 2 isoform d [Homo sapiens].
ACCESSION   NP_001317507 XP_005266484
VERSION     NP_001317507.1
DBSOURCE    REFSEQ: accession NM_001330578.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1387)
  AUTHORS   Xu WQ, Wang RM, Dong Y and Wu ZY.
  TITLE     Pathogenicity of Intronic and Synonymous Variants of ATP7B in
            Wilson Disease
  JOURNAL   J Mol Diagn 25 (1), 57-67 (2023)
   PUBMED   36343861
  REMARK    GeneRIF: Pathogenicity of Intronic and Synonymous Variants of ATP7B
            in Wilson Disease.
REFERENCE   2  (residues 1 to 1387)
  AUTHORS   Charbonnier P, Chovelon B, Ravelet C, Ngo TD, Chevallet M and
            Deniaud A.
  TITLE     ATP7B-Deficient Hepatocytes Reveal the Importance of Protein
            Misfolding Induced at Low Copper Concentration
  JOURNAL   Cells 11 (21), 3400 (2022)
   PUBMED   36359796
  REMARK    GeneRIF: ATP7B-Deficient Hepatocytes Reveal the Importance of
            Protein Misfolding Induced at Low Copper Concentration.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1387)
  AUTHORS   Tasmeen R, Karim ASMB, Banu LA, Hossain E, Rokunuzzaman M, Majumder
            W, Alam ST, Rasid R, Benzamin M and Hasan MS.
  TITLE     Mutational analysis of exon 8 and exon 14 of ATP7B gene in
            Bangladeshi children with Wilson disease
  JOURNAL   Indian J Gastroenterol 41 (5), 456-464 (2022)
   PUBMED   36308701
  REMARK    GeneRIF: Mutational analysis of exon 8 and exon 14 of ATP7B gene in
            Bangladeshi children with Wilson disease.
REFERENCE   4  (residues 1 to 1387)
  AUTHORS   Gul B, Firasat S, Tehreem R, Shan T and Afshan K.
  TITLE     Analysis of Wilson disease mutations in copper binding domain of
            ATP7B gene
  JOURNAL   PLoS One 17 (6), e0269833 (2022)
   PUBMED   35763513
  REMARK    GeneRIF: Analysis of Wilson disease mutations in copper binding
            domain of ATP7B gene.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1387)
  AUTHORS   Petrukhin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH and Gilliam
            TC.
  TITLE     Characterization of the Wilson disease gene encoding a P-type
            copper transporting ATPase: genomic organization, alternative
            splicing, and structure/function predictions
  JOURNAL   Hum Mol Genet 3 (9), 1647-1656 (1994)
   PUBMED   7833924
REFERENCE   6  (residues 1 to 1387)
  AUTHORS   Petrukhin K, Fischer SG, Pirastu M, Tanzi RE, Chernov I, Devoto M,
            Brzustowicz LM, Cayanis E, Vitale E, Russo JJ et al.
  TITLE     Mapping, cloning and genetic characterization of the region
            containing the Wilson disease gene
  JOURNAL   Nat Genet 5 (4), 338-343 (1993)
   PUBMED   8298640
REFERENCE   7  (residues 1 to 1387)
  AUTHORS   Bull PC, Thomas GR, Rommens JM, Forbes JR and Cox DW.
  TITLE     The Wilson disease gene is a putative copper transporting P-type
            ATPase similar to the Menkes gene
  JOURNAL   Nat Genet 5 (4), 327-337 (1993)
   PUBMED   8298639
  REMARK    Erratum:[Nat Genet 1994 Feb;6(2):214]
REFERENCE   8  (residues 1 to 1387)
  AUTHORS   Yamaguchi Y, Heiny ME and Gitlin JD.
  TITLE     Isolation and characterization of a human liver cDNA as a candidate
            gene for Wilson disease
  JOURNAL   Biochem Biophys Res Commun 197 (1), 271-277 (1993)
   PUBMED   8250934
REFERENCE   9  (residues 1 to 1387)
  AUTHORS   Weiss,K.H. and Schilsky,M.
  TITLE     Wilson Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301685
REFERENCE   10 (residues 1 to 1387)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA125470.1, U11700.1,
            BC143975.1, BC143976.1, AL162377.10 and BU682287.1.
            On Aug 27, 2016 this sequence version replaced XP_005266484.1.
            
            Summary: This gene is a member of the P-type cation transport
            ATPase family and encodes a protein with several membrane-spanning
            domains, an ATPase consensus sequence, a hinge domain, a
            phosphorylation site, and at least 2 putative copper-binding sites.
            This protein is a monomer, and functions as a copper-transporting
            ATPase which exports copper out of the cells, such as the efflux of
            hepatic copper into the bile. Alternate transcriptional splice
            variants, encoding different isoforms with distinct cellular
            localizations, have been characterized. Mutations in this gene have
            been associated with Wilson disease which is characterized by
            copper accumulation. [provided by RefSeq, Dec 2019].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.890351.1, BC143975.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1387
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.3"
     Protein         1..1387
                     /product="copper-transporting ATPase 2 isoform d"
                     /EC_number="7.2.2.8"
                     /note="copper-transporting ATPase 2; copper pump 2;
                     ATPase, Cu++ transporting, beta polypeptide; Wilson
                     disease-associated protein; ATPase, Cu(2+)- transporting,
                     beta polypeptide; copper-transporting protein ATP7B"
                     /calculated_mol_wt=148273
     Site            23
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P35670.4)"
     Region          61..124
                     /region_name="HMA"
                     /note="Heavy-metal-associated domain (HMA) is a conserved
                     domain of approximately 30 amino acid residues found in a
                     number of proteins that transport or detoxify heavy
                     metals, for example, the CPx-type heavy metal ATPases and
                     copper chaperones. HMA domain...; cd00371"
                     /db_xref="CDD:238219"
     Site            order(67..69,72)
                     /site_type="metal-binding"
                     /note="metal-binding site [ion binding]"
                     /db_xref="CDD:238219"
     Region          146..209
                     /region_name="HMA"
                     /note="Heavy-metal-associated domain (HMA) is a conserved
                     domain of approximately 30 amino acid residues found in a
                     number of proteins that transport or detoxify heavy
                     metals, for example, the CPx-type heavy metal ATPases and
                     copper chaperones. HMA domain...; cd00371"
                     /db_xref="CDD:238219"
     Site            order(152..154,157)
                     /site_type="metal-binding"
                     /note="metal-binding site [ion binding]"
                     /db_xref="CDD:238219"
     Region          230..249
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35670.4)"
     Region          260..318
                     /region_name="HMA"
                     /note="Heavy-metal-associated domain (HMA) is a conserved
                     domain of approximately 30 amino acid residues found in a
                     number of proteins that transport or detoxify heavy
                     metals, for example, the CPx-type heavy metal ATPases and
                     copper chaperones. HMA domain...; cd00371"
                     /db_xref="CDD:238219"
     Site            order(266..268,271)
                     /site_type="metal-binding"
                     /note="metal-binding site [ion binding]"
                     /db_xref="CDD:238219"
     Region          322..355
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35670.4)"
     Region          363..425
                     /region_name="HMA"
                     /note="Heavy-metal-associated domain (HMA) is a conserved
                     domain of approximately 30 amino acid residues found in a
                     number of proteins that transport or detoxify heavy
                     metals, for example, the CPx-type heavy metal ATPases and
                     copper chaperones. HMA domain...; cd00371"
                     /db_xref="CDD:238219"
     Site            order(368..370,373)
                     /site_type="metal-binding"
                     /note="metal-binding site [ion binding]"
                     /db_xref="CDD:238219"
     Site            478
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P35670.4)"
     Site            481
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64535; propagated from
                     UniProtKB/Swiss-Prot (P35670.4)"
     Region          492..554
                     /region_name="HMA"
                     /note="Heavy-metal-associated domain (HMA) is a conserved
                     domain of approximately 30 amino acid residues found in a
                     number of proteins that transport or detoxify heavy
                     metals, for example, the CPx-type heavy metal ATPases and
                     copper chaperones. HMA domain...; cd00371"
                     /db_xref="CDD:238219"
     Site            order(497..499,502)
                     /site_type="metal-binding"
                     /note="metal-binding site [ion binding]"
                     /db_xref="CDD:238219"
     Region          567..630
                     /region_name="HMA"
                     /note="Heavy-metal-associated domain (HMA) is a conserved
                     domain of approximately 30 amino acid residues found in a
                     number of proteins that transport or detoxify heavy
                     metals, for example, the CPx-type heavy metal ATPases and
                     copper chaperones. HMA domain...; cd00371"
                     /db_xref="CDD:238219"
     Site            order(573..575,578)
                     /site_type="metal-binding"
                     /note="metal-binding site [ion binding]"
                     /db_xref="CDD:238219"
     Region          652..1276
                     /region_name="P-type_ATPase_Cu-like"
                     /note="P-type heavy metal-transporting ATPase, similar to
                     human copper-transporting ATPases, ATP7A and ATP7B;
                     cd02094"
                     /db_xref="CDD:319783"
     Site            654..675
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35670.4)"
     Site            order(905,907,1253)
                     /site_type="other"
                     /note="putative Cu binding site [ion binding]"
                     /db_xref="CDD:319783"
     Site            order(949..951,1019,1070..1072,1102,1142..1144,1164,1167,
                     1170,1189,1192)
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:319783"
     CDS             1..1387
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /coded_by="NM_001330578.2:114..4277"
                     /note="isoform d is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS81768.1"
                     /db_xref="GeneID:540"
                     /db_xref="HGNC:HGNC:870"
                     /db_xref="MIM:606882"
ORIGIN      
        1 mpeqerqita regasrkils klslptrawe pamkksfafd nvgyeggldg lgpssqvats
       61 tvrilgmtcq scvksiedri snlkgiismk vsleqgsatv kyvpsvvclq qvchqigdmg
      121 feasiaegka aswpsrslpa qeavvklrve gmtcqscvss iegkvrklqg vvrvkvslsn
      181 qeavityqpy liqpedlrdh vndmgfeaai kskvaplslg pidierlqst npkrplssan
      241 qnfnnsetlg hqgshvvtlq lridgmhcks cvlnieenig qllgvqsiqv slenktaqvk
      301 ydpsctspva lqraiealpp gnfkvslpdg aegsgtdhrs ssshspgspp rnqvqgtcst
      361 tliaiagmtc ascvhsiegm isqlegvqqi svslaegtat vlynpsvisp eelraaiedm
      421 gfeasvvses cstnplgnhs agnsmvqttd gtptsvqeva phtgrlpanh apdilakspq
      481 stravapqkc flqikgmtca scvsniernl qkeagvlsvl valmagkaei kydpeviqpl
      541 eiaqfiqdlg feaavmedya gsdgnielti tgmtcascvh nieskltrtn gityasvala
      601 tskalvkfdp eiigprdiik iieeigfhas laqrnpnahh ldhkmeikqw kksflcslvf
      661 gipvmalmiy mlipsnephq smvldhniip glsilnliff ilctfvqskt sealaklmsl
      721 qateatvvtl gednliiree qvpmelvqrg divkvvpggk fpvdgkvleg ntmadeslit
      781 geampvtkkp gstviagsin ahgsvlikat hvgndttlaq ivklveeaqm skapiqqlad
      841 rfsgyfvpfi iimstltlvv wivigfidfg vvqryfpnpn khisqtevii rfafqtsitv
      901 lciacpcslg latptavmvg tgvaaqngil ikggkplema hkiktvmfdk tgtithgvpr
      961 vmrvlllgdv atlplrkvla vvgtaeasse hplgvavtky ckeelgtetl gyctdfqavp
     1021 gcgigckvsn vegilahser plsapashln eagslpaekd avpqtfsvli gnrewlrrng
     1081 ltissdvsda mtdhemkgqt ailvaidgvl cgmiaiadav kqeaalavht lqsmgvdvvl
     1141 itgdnrktar aiatqvgink vfaevlpshk vakvqelqnk gkkvamvgdg vndspalaqa
     1201 dmgvaigtgt dvaieaadvv lirndlldvv asihlskrtv rririnlvla liynlvgipi
     1261 aagvfmpigi vlqpwmgsaa maassvsvvl sslqlkcykk pdleryeaqa hghmkpltas
     1321 qvsvhigmdd rwrdspratp wdqvsyvsqv slssltsdkp srhsaaaddd gdkwslllng
     1381 rdeeqyi
//
LOCUS       XP_006710446            1239 aa            linear   PRI 20-MAR-2023
DEFINITION  cilia- and flagella-associated protein 57 isoform X2 [Homo
            sapiens].
ACCESSION   XP_006710446
VERSION     XP_006710446.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006710383.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1239
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1239
                     /product="cilia- and flagella-associated protein 57
                     isoform X2"
                     /calculated_mol_wt=143672
     Region          <53..245
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:225201"
     Region          274..325
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          330..376
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          <332..409
                     /region_name="Nsa1_WDR74-like"
                     /note="Ribosome biogenesis protein Nsa1 and similar
                     proteins; cl45912"
                     /db_xref="CDD:459257"
     Region          337..379
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:439302"
     Region          377..655
                     /region_name="WD40"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; cl29593"
                     /db_xref="CDD:453027"
     Site            order(377,395,399,405..406,417..418,436,440,445..446,
                     454..455,476,486..487,500,517,522,528..529,541..542,560,
                     564,569,581..582,599,604,612..613,625..626,644,648,
                     654..655)
                     /site_type="active"
                     /note="structural tetrad [active]"
                     /db_xref="CDD:238121"
     Region          382..418
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          422..456
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          464..498
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          504..542
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          589..624
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          632..659
                     /region_name="WD40 repeat"
                     /note="WD40 repeat [structural motif]"
                     /db_xref="CDD:293791"
     Region          692..1210
                     /region_name="Mplasa_alph_rch"
                     /note="helix-rich Mycoplasma protein; TIGR04523"
                     /db_xref="CDD:275316"
     CDS             1..1239
                     /gene="CFAP57"
                     /gene_synonym="VWS2; WDR65"
                     /coded_by="XM_006710383.2:268..3987"
                     /db_xref="GeneID:149465"
                     /db_xref="HGNC:HGNC:26485"
                     /db_xref="MIM:614259"
ORIGIN      
        1 mwirngknsf qvhsgccted rfkeekerkq geqlrddccn sgseksqgml alsispnrry
       61 laisetvqek paitiyelss ipcrkrkvln nfdfqvqkfi smafspdsky llaqtsppes
      121 nlvywlwekq kvmaivridt qnnpvyqvsf spqdntqvcv tgngmfkllr faegtlkqts
      181 fqrgepqnyl ahtwvaddki vvgtdtgklf lfesgdqrwe tsimvkeptn gsksldviqe
      241 sesliefppv ssplpsyeqm vaasshsqms mpqvfaiaay skgfacsagp grvllfekme
      301 ekdfyresre iripvdpqsn dpsqsdkqdv lclcfspsee tlvastsknq lysitmslte
      361 iskgepahfe ylmyplhsap itglatcirk pliatcsldr sirlwnyetn tlelfkeyqe
      421 eaysislhps ghfivvgfad klrlmnllid dirsfkeysv rgcgecsfsn gghlfaavng
      481 nvihvyttts lenisslkgh tgkirsivwn addsklisgg tdgavyewnl stgkretecv
      541 lkscsyncvt vspdakiifa vgsdhtlkei adslilreis afdvtytaiv ishsgrmmfv
      601 gtsvgtiram kyplplqkef neyqahagpi tkmlltfddq flltaaedgc lftwkvfdkd
      661 grgikrerev gfaeevlvtk tdmeekaqvm lelktrveel kmeneyqlrl kdmnysekik
      721 eltdkfiqem eslktknqvl rtekekqdvy hhehiedlld kqsrelqdme ccnnqkllle
      781 yekyqelqlk sqrmqeeyek qlrdndetks qaleeltefy eaklqekttl leeaqedvrq
      841 qlrefeetkk qieededrei qdiktkyekk lrdekesnlr lkgetgimrk kfsslqkeie
      901 ertndietlk geqmklqgvi kslekdiqgl kreiqerdet iqdkekriyd lkkknqelgk
      961 fkfvldykik elkkqiepre neirvmkeqi qemeaelenf hkqntqleln itelwqklra
     1021 tdqemrrerq kerdlealvk rfktdlhncv ayiqeprllk ekvrglfeky vqradmveia
     1081 glntdlqqey trqrehlern latlkkkvvk egelhrtdyv rimqenvsli keinelrrel
     1141 kftrsqvydl eaalkltkkv rpqevsetep srdmlstapt arlneqeetg riiemqrlei
     1201 qrlrdqiqeq eqvtgfhtla gvrlpslsns evdlevktn
//
LOCUS       XP_024309321             591 aa            linear   PRI 20-MAR-2023
DEFINITION  CTP synthase 1 isoform X2 [Homo sapiens].
ACCESSION   XP_024309321
VERSION     XP_024309321.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024453553.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..591
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..591
                     /product="CTP synthase 1 isoform X2"
                     /calculated_mol_wt=66560
     Region          1..556
                     /region_name="PLN02327"
                     /note="CTP synthase"
                     /db_xref="CDD:215186"
     CDS             1..591
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /coded_by="XM_024453553.2:546..2321"
                     /db_xref="GeneID:1503"
                     /db_xref="HGNC:HGNC:2519"
                     /db_xref="MIM:123860"
ORIGIN      
        1 mkyilvtggv isgigkgiia ssvgtilksc glhvtsikid pyinidagtf spyehgevfv
       61 lddggevdld lgnyerfldi rltkdnnltt gkiyqyvink erkgdylgkt vqvvphitda
      121 iqewvmrqal ipvdedglep qvcvielggt vgdiesmpfi eafrqfqfkv krenfcnihv
      181 slvpqpsstg eqktkptqns vrelrglgls pdlvvcrcsn pldtsvkeki smfchvepeq
      241 vicvhdvssi yrvpllleeq gvvdyflrrl dlpierqprk mlmkwkemad rydrlletcs
      301 ialvgkytkf sdsyasvika lehsalainh kleikyidsa dlepitsqee pvryheawqk
      361 lcsahgvlvp ggfgvrgteg kiqaiawarn qkkpflgvcl gmqlavvefs rnvlgwqdan
      421 stefdpttsh pvvvdmpehn pgqmggtmrl gkrrtlfqtk nsvmrklygd adyleerhrh
      481 rfevnpvwkk cleeqglkfv gqdvegerme iveledhpff vgvqyhpefl srpikpsppy
      541 fglllasvgr lshylqkgcr lsprdtysdr sgssspdsei telkfpsinh d
//
LOCUS       XP_005245908            1603 aa            linear   PRI 20-MAR-2023
DEFINITION  transcription factor Gibbin isoform X1 [Homo sapiens].
ACCESSION   XP_005245908
VERSION     XP_005245908.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005245851.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1603
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..1603
                     /product="transcription factor Gibbin isoform X1"
                     /calculated_mol_wt=168219
     Region          <594..642
                     /region_name="DUF4683"
                     /note="Domain of unknown function (DUF4683); pfam15735"
                     /db_xref="CDD:434893"
     Region          <856..1052
                     /region_name="PRK12323"
                     /note="DNA polymerase III subunit gamma/tau"
                     /db_xref="CDD:237057"
     CDS             1..1603
                     /gene="AHDC1"
                     /gene_synonym="MRD25; XIGIS"
                     /coded_by="XM_005245851.4:860..5671"
                     /db_xref="GeneID:27245"
                     /db_xref="HGNC:HGNC:25230"
                     /db_xref="MIM:615790"
ORIGIN      
        1 mrvkpqglvv tssavcsspd ylrepkyypg gpptprpllp trppasppdk afsthafsen
       61 prppprrdps trrppvlakg ddplppraar pvsqarcptp vgdgsssrrc wdngrvnlrp
      121 vvqlidimkd ltrlsqdlqh sgvhldcggl rlsrppappp gdlqysffss pslansirsp
      181 eeratphaks erpshplyep epeprdspqp gqghspgata aatglppepe pdstdysela
      241 dadilselas ltcpeaqlle aqaleppspe pepqlldpqp rfldpqalep lgealelppl
      301 qpladplglp glalqaldtl pdslesqlld pqaldplpkl ldvpgrrlep qqplghcpla
      361 eplrldlcsp hgppgpeghp kyalrrtdrp kilcrrrkag rgrkadagpe grllplpmpt
      421 glvaalaepp ppppppppal pgpgpvsvpe lkpessqtpv vstrkgkcrg vrrmvvkmak
      481 ipvslgrrnk ttykvsslss slsvegkelg lrvsaeptpl lkmknngrnv vvvfppgemp
      541 iilkrkrgrp pknlllgpgk pkepavvaae aatvaaatma mpevkkrrrr kqklaspqps
      601 yaadandska eysdvlakla flnrqsqcag rcspprcwtp sepesvhqap dtqsishflh
      661 rvqgfrrrgg kaggfggrgg ghaaksarcs fsdffegigk kkkvvavaaa gvggpgltel
      721 ghprkrgrge vdavtgkpkr krrsrkngtl fpeqvpsgpg fgeagaewag dkgggwaphh
      781 ghpggqagrn cgfqgteara fastglesga sgrgsyystg apsgqtelsq erqnlftgyf
      841 rslldsddss dlldfalsas rpesrkasgt yagpptsalp aqrglatfps rgakaspvav
      901 gssgagadps fqpvlsarqt fppgraasyg ltpaasdcra aetfpklvpp psamarsptt
      961 hppantylpq yggygagqsv faptkpftgq dcanskdcsf aygsgnslpa spssahsagy
     1021 appptggpcl ppskasffss segapfsgsa ptplrcdsra stvspggymv pkgttasats
     1081 aasaasssss sfqpspencr qfagasqwpf rqgyggldwa seafsqlynp sfdchvsepn
     1141 vildisnytp qkvkqqtavs etfsesssds tqfnqpvggg gfrranseas ssegqsslss
     1201 leklmmdwne assapgynwn qsvlfqsssk pgrgrrkkvd lfeashlgfp tsasaaasgy
     1261 pskrstgprq prggrgggac sakkerggaa akakfipkpq pvnplfqdsp dlgldyysgd
     1321 ssmsplpsqs rafgvgerdp cdfigpysmn pstpsdgtfg qgfhcdspsl gapeldgkhf
     1381 pplahpptvf daglqkaysp tcsptlgfke elrppptkla aceplkhglq gaslghaaaa
     1441 qahlscrdlp lgqphydsps ckgtaywypp gsaarsppye gkvgtgllad flgrteaacl
     1501 saphlasppa tpkadkeple marppgpprg paaaaagygc pllsdltlsp vprdsllplq
     1561 dtayrypgfm pqahpglggg pksgflgpma ephpedtftv tsl
//
LOCUS       XP_011539683             231 aa            linear   PRI 20-MAR-2023
DEFINITION  bone morphogenetic protein 8A isoform X3 [Homo sapiens].
ACCESSION   XP_011539683
VERSION     XP_011539683.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011541381.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..231
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..231
                     /product="bone morphogenetic protein 8A isoform X3"
                     /calculated_mol_wt=25613
     Region          33..224
                     /region_name="TGFb_propeptide"
                     /note="TGF-beta propeptide; pfam00688"
                     /db_xref="CDD:425823"
     CDS             1..231
                     /gene="BMP8A"
                     /gene_synonym="OP-2"
                     /coded_by="XM_011541381.3:357..1052"
                     /db_xref="GeneID:353500"
                     /db_xref="HGNC:HGNC:21650"
ORIGIN      
        1 maarpgplwl lgltlcalgg ggpglrpppg cpqrrlgare rrdvqreila vlglpgrprp
       61 rappaasrlp asaplfmldl yhamagddde dgapaeqrlg radlvmsfvn mverdralgh
      121 qephwkefrf dltqipagea vtaaefriyk vpsihllnrt lhvsmfqvvq eqsnresdlf
      181 fldlqtlrag degwlvldvt aasdcwllkr hkdlglrlyv etedaveddr i
//
LOCUS       XP_047278011             217 aa            linear   PRI 20-MAR-2023
DEFINITION  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform X7
            [Homo sapiens].
ACCESSION   XP_047278011
VERSION     XP_047278011.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422055.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..217
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..217
                     /product="enoyl-[acyl-carrier-protein] reductase,
                     mitochondrial isoform X7"
                     /calculated_mol_wt=23175
     Region          44..>211
                     /region_name="ETR"
                     /note="2-enoyl thioester reductase (ETR); cd08290"
                     /db_xref="CDD:176250"
     CDS             1..217
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1"
                     /coded_by="XM_047422055.1:29..682"
                     /db_xref="GeneID:51102"
                     /db_xref="HGNC:HGNC:19691"
                     /db_xref="MIM:608205"
ORIGIN      
        1 mwvcstlwrv rtparqwrgl lpasgchgpa assysasaep arvralvygh hgdpakvveg
       61 itrelfqrfp wiflqlitav issastvlkn lelaavrgsd vrvkmlaapi npsdinmiqg
      121 nygflpelpa vggnegvaqv vavgsnvtgl kpgdwvipan aglgtwrtea vfseealiqv
      181 psdiplqsaa tlgvnpctay rmlmdfeqlq pdlisrs
//
LOCUS       XP_047280343             551 aa            linear   PRI 20-MAR-2023
DEFINITION  FGGY carbohydrate kinase domain-containing protein isoform X2 [Homo
            sapiens].
ACCESSION   XP_047280343
VERSION     XP_047280343.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424387.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..551
                     /product="FGGY carbohydrate kinase domain-containing
                     protein isoform X2"
                     /calculated_mol_wt=59862
     Region          10..544
                     /region_name="FGGY_YpCarbK_like"
                     /note="Yersinia Pseudotuberculosis carbohydrate
                     kinase-like subgroup; belongs to the FGGY family of
                     carbohydrate kinases; cd07782"
                     /db_xref="CDD:212663"
     Site            order(12,14,16,23,25,27,31..32,36,79..84,135..138,145,
                     187..188,191,193,198,230,233,253,255,263,266..267,308,
                     312..320,396,400,485..487,489..490,492..497,509..510)
                     /site_type="other"
                     /note="N- and C-terminal domain interface [polypeptide
                     binding]"
                     /db_xref="CDD:212663"
     Site            order(16,18..21,23,86..87,114,260..261,293..295,298,335,
                     339,362,456..458,461,485)
                     /site_type="active"
                     /db_xref="CDD:212663"
     Site            order(16,18..21,23,260,293..295,335..336,338..339,
                     362..363,365,456..458,461)
                     /site_type="other"
                     /note="MgATP binding site [chemical binding]"
                     /db_xref="CDD:212663"
     Site            order(16,19,260)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:212663"
     Site            order(18..19,86..87,114,144,193,260..261,295,298,328)
                     /site_type="other"
                     /note="carbohydrate binding site [chemical binding]"
                     /db_xref="CDD:212663"
     Site            order(336,340,343,385,387,392..393,405..410,418..420)
                     /site_type="other"
                     /note="putative homodimer interface [polypeptide binding]"
                     /db_xref="CDD:212663"
     CDS             1..551
                     /gene="FGGY"
                     /coded_by="XM_047424387.1:401..2056"
                     /db_xref="GeneID:55277"
                     /db_xref="HGNC:HGNC:25610"
                     /db_xref="MIM:611370"
ORIGIN      
        1 msggeqkper yyvgvdvgtg svraalvdqs gvllafadqp iknwepqfnh heqssediwa
       61 accvvtkkvv qgidlnqirg lgfdatcslv vldkqfhplp vnqegdshrn vimwldhrav
      121 sqvnrinetk hsvlqyvggv msvemqapkl lwlkenlrei cwdkaghffd lpdflswkat
      181 gvtarslcsl vckwtysaek gwddsfwkmi gledfvadny skignqvlpp gaslgngltp
      241 eaardlgllp giavaaslid ahagglgvig advrghglic egqpvtsrla vicgtsschm
      301 giskdpifvp gvwgpyfsam vpgfwlnegg qsvtgklidh mvqghaafpe lqvkatarcq
      361 siyaylnshl dlikkaqpvg fltvdlhvwp dfhgnrspla dltlkgmvtg lklsqdlddl
      421 ailylatvqa ialgtrfiie ameaaghsis tlflcgglsk nplfvqmhad itgmpvvlsq
      481 evesvlvgaa vlgacasgdf asvqeamakm skvgkvvfpr lqdkkyydkk yqvflklveh
      541 qkeylaimnd d
//
LOCUS       XP_011540112             410 aa            linear   PRI 20-MAR-2023
DEFINITION  prostaglandin E2 receptor EP3 subtype isoform X1 [Homo sapiens].
ACCESSION   XP_011540112
VERSION     XP_011540112.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011541810.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000001.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..410
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     Protein         1..410
                     /product="prostaglandin E2 receptor EP3 subtype isoform
                     X1"
                     /calculated_mol_wt=45367
     Region          49..358
                     /region_name="7tmA_PGE2_EP3"
                     /note="prostaglandin E2 receptor EP3 subtype, member of
                     the class A family of seven-transmembrane G
                     protein-coupled receptors; cd15146"
                     /db_xref="CDD:320274"
     Region          50..76
                     /region_name="TM helix 1"
                     /note="TM helix 1 [structural motif]"
                     /db_xref="CDD:320274"
     Region          88..114
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320274"
     Site            order(110,113..114,130..135,137..138,141,186,188..192,226,
                     229..231,233..235,237..238,295,298..299,301..302,305,
                     324..325,327..329,332,335..336)
                     /site_type="other"
                     /note="putative ligand binding pocket [chemical binding]"
                     /db_xref="CDD:320274"
     Region          130..160
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320274"
     Region          172..194
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320274"
     Region          226..255
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320274"
     Region          275..305
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320274"
     Region          325..350
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320274"
     CDS             1..410
                     /gene="PTGER3"
                     /gene_synonym="EP3; EP3-I; EP3-II; EP3-III; EP3-IV;
                     EP3-VI; EP3e; lnc003875; PGE2-R"
                     /coded_by="XM_011541810.4:240..1472"
                     /db_xref="GeneID:5733"
                     /db_xref="HGNC:HGNC:9595"
                     /db_xref="MIM:176806"
ORIGIN      
        1 mketrgyggd apfctrlnhs ytgmwapers aeargnltrp pgsgedcgsv svafpitmll
       61 tgfvgnalam llvsrsyrrr eskrkksfll cigwlaltdl vgqllttpvv ivvylskqrw
      121 ehidpsgrlc tffgltmtvf glsslfiasa maveralair aphwyashmk tratravllg
      181 vwlavlafal lpvlgvgqyt vqwpgtwcfi stgrggngts sshnwgnlff asafaflgll
      241 altvtfscnl atikalvsrc rakatasqss aqwgrittet aiqlmgimcv lsvcwsplli
      301 mmlkmifnqt svehckthte kqkecnffli avrlaslnqi ldpwvylllr killrkfcqi
      361 ryhtnnyass stslpcqcss tlmwsdhler rnfgeiktcl saritsleap
//
LOCUS       XP_047280673             491 aa            linear   PRI 20-MAR-2023
DEFINITION  rhotekin-2 isoform X5 [Homo sapiens].
ACCESSION   XP_047280673
VERSION     XP_047280673.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424717.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..491
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..491
                     /product="rhotekin-2 isoform X5"
                     /calculated_mol_wt=55918
     Region          19..74
                     /region_name="Hr1"
                     /note="Rho effector or protein kinase C-related kinase
                     homology region 1 homologues; smart00742"
                     /db_xref="CDD:128981"
     Region          98..247
                     /region_name="Anillin"
                     /note="Cell division protein anillin; pfam08174"
                     /db_xref="CDD:429861"
     Region          286..396
                     /region_name="PH_rhotekin2"
                     /note="Anillin Pleckstrin homology (PH) domain; cd13249"
                     /db_xref="CDD:270069"
     CDS             1..491
                     /gene="RTKN2"
                     /gene_synonym="bA531F24.1; PLEKHK1"
                     /coded_by="XM_047424717.1:235..1710"
                     /db_xref="GeneID:219790"
                     /db_xref="HGNC:HGNC:19364"
                     /db_xref="MIM:618450"
ORIGIN      
        1 megpslrgpa lrlaglptqq dcniqekidl eirmregiwk llslstqkdq vlhavknlmv
       61 cnarlmayts elqkleeqia nqtgrcdvkf eskertackg kiaisdirip lmwkdsdhfs
      121 nkersrryai fclfkmganv fdtdvvnvdk titdicfenv tifneagpdf qikvevyscc
      181 teessitntp kklakklkts iskatgkkis svlqeeddem clllssavfg vkynllahtt
      241 ltlesaedsf kthnlsingn eessfwlply gnmccrlvaq pacmaedafa gflnqqqmve
      301 gliswrrlyc vlrggklycf yspeeieakv epalvvpink etriramdkd akkrihnfsv
      361 inpvpgqait qifavdnred lqkwmeafwq hffdlsqwkh cceelmkiei msprkpplfl
      421 tkeatsvyhd msidspmkle sltdiiqkki eetngqflig qheeslpppw atlfdgnhqm
      481 viqkkvegnr n
//
LOCUS       XP_047280771             632 aa            linear   PRI 20-MAR-2023
DEFINITION  cytoplasmic polyadenylation element-binding protein 3 isoform X7
            [Homo sapiens].
ACCESSION   XP_047280771
VERSION     XP_047280771.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047424815.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..632
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..632
                     /product="cytoplasmic polyadenylation element-binding
                     protein 3 isoform X7"
                     /calculated_mol_wt=68233
     Region          450..541
                     /region_name="RRM1_CPEB2_like"
                     /note="RNA recognition motif 1 (RRM1) found in cytoplasmic
                     polyadenylation element-binding protein CPEB-2, CPEB-3,
                     CPEB-4 and similar protiens; cd12724"
                     /db_xref="CDD:410123"
     Region          558..632
                     /region_name="RRM2_CPEB2_like"
                     /note="RNA recognition motif 2 (RRM2) found in cytoplasmic
                     polyadenylation element-binding protein CPEB-2, CPEB-3,
                     CPEB-4 and similar protiens; cd12726"
                     /db_xref="CDD:410125"
     CDS             1..632
                     /gene="CPEB3"
                     /coded_by="XM_047424815.1:165..2063"
                     /db_xref="GeneID:22849"
                     /db_xref="HGNC:HGNC:21746"
                     /db_xref="MIM:610606"
ORIGIN      
        1 mqddllmdks ktqpqpqqqq rqqqqpqpes svseapstpl ssetpkpeen savpalspaa
       61 appapngpdk mqmespllpg lsfhqppqqp pppqepaapg aslspsfgst wstgttnave
      121 dsffqgitpv ngtmlfqnfp hhvnpvfggt fspqiglaqt qhhqqppppa papqpaqpaq
      181 ppqaqppqqr rspaspsqap yaqrsaaaay ghqpimtskp ssssavaaaa aaaaassass
      241 swnthqsvna awsapsnpwg glqagrdprr avgvgvgvgv gvpsplnpis plkkpfssnv
      301 iappkfpraa pltskswmed nafrtdngnn llpfqdrsrp ydtfnlhsle nslmdmirtd
      361 heplkgkhyp psgppmsfad imwrnhfagr mginfhhpgt dnimalnsrs slfpfedafl
      421 ddshgdqals sglssptrcq ngerverysr kvfvgglppd idedeitasf rrfgplvvdw
      481 phkaesksyf ppkgyafllf qeessvqali dacleedgkl ylcvssptik dkpvqirpwn
      541 lsdsdfvmdg sqpldprkti fvggvprplr avelamimdr lyggvcyagi dtdpelkypk
      601 gagrvafsnq qsyiaaisar fvqlqhndid kr
//
LOCUS       XP_024303781             668 aa            linear   PRI 20-MAR-2023
DEFINITION  actin-binding LIM protein 1 isoform X7 [Homo sapiens].
ACCESSION   XP_024303781
VERSION     XP_024303781.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024448013.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..668
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..668
                     /product="actin-binding LIM protein 1 isoform X7"
                     /calculated_mol_wt=75241
     Region          3..58
                     /region_name="LIM2_abLIM"
                     /note="The second LIM domain on actin binding LIM (abLIM)
                     proteins; cd09328"
                     /db_xref="CDD:188714"
     Site            order(6,9,26,29,32,35,54,57)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188714"
     Region          74..125
                     /region_name="LIM3_abLIM"
                     /note="The third LIM domain of actin binding LIM (abLIM)
                     proteins; cd09329"
                     /db_xref="CDD:188715"
     Site            order(74,77,95,98,101,104,121,124)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188715"
     Region          133..188
                     /region_name="LIM4_abLIM"
                     /note="The fourth LIM domain of actin binding LIM (abLIM)
                     proteins; cd09330"
                     /db_xref="CDD:188716"
     Site            order(133,136,153,156,159,162,181,184)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:188716"
     Region          197..618
                     /region_name="AbLIM_anchor"
                     /note="Putative adherens-junction anchoring region of
                     AbLIM; pfam16182"
                     /db_xref="CDD:435194"
     Region          633..668
                     /region_name="VHP"
                     /note="Villin headpiece domain; smart00153"
                     /db_xref="CDD:128458"
     CDS             1..668
                     /gene="ABLIM1"
                     /gene_synonym="ABLIM; abLIM-1; LIMAB1; LIMATIN"
                     /coded_by="XM_024448013.2:293..2299"
                     /db_xref="GeneID:3983"
                     /db_xref="HGNC:HGNC:78"
                     /db_xref="MIM:602330"
ORIGIN      
        1 mygtrchgcg efvegevvta lgktyhpncf actickrpfp pgdrvtfngr dclcqlcaqp
       61 mssspkettf ssncagcgrd ikngqallal dkqwhlgcfk ckscgkvltg eyiskdgapy
      121 cekdyqglfg vkceachqfi tgkvleagdk hyhpscarcs rcnqmftege emylqgstvw
      181 hpdckqstkt eeklrptrts sesiysrpgs sipgspghti yakvdneild ykdlaaipkv
      241 kaiydierpd lityepfyts gyddkqerqs lgesprtlsp tpsaegyqdv rdrmihrsts
      301 qgsinspvys rhsytpttsr spqhfhrpel lspgvqrlsy lrtsslspth sdsrpnppfr
      361 hhfiphikgn epssgrnspl pyrpdsrplt ptyaqapkhf hvpdqginiy rkppiykqhd
      421 aaalaaqsks sediikfskf paaqapdpse tpkietdhwp gppsfavvgp dmkrrssgre
      481 eddeellrrr qlqeeqlmkl nsglgqlilk eemekesrer ssllasryds pinsaships
      541 sktaslpgyg rnglhrpvst dfaqynsygd vsggvrdyqt lpdghmpamr mdrgvsmpnm
      601 lepkifpyem lmvtnrgrnk ilrevdrtrl erhlapevfr eifgmsiqef drlplwrrnd
      661 mkkkaklf
//
LOCUS       XP_047281394             542 aa            linear   PRI 20-MAR-2023
DEFINITION  chondroitin sulfate N-acetylgalactosaminyltransferase 2 isoform X1
            [Homo sapiens].
ACCESSION   XP_047281394
VERSION     XP_047281394.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047425438.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..542
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     Protein         1..542
                     /product="chondroitin sulfate
                     N-acetylgalactosaminyltransferase 2 isoform X1"
                     /calculated_mol_wt=62441
     Region          75..516
                     /region_name="Glyco_tranf_GTA_type"
                     /note="Glycosyltransferase family A (GT-A) includes
                     diverse families of glycosyl transferases with a common
                     GT-A type structural fold; cl11394"
                     /db_xref="CDD:448240"
     CDS             1..542
                     /gene="CSGALNACT2"
                     /gene_synonym="beta4GalNAcT; ChGn-2; CHGN2; GALNACT-2;
                     GALNACT2; PRO0082"
                     /coded_by="XM_047425438.1:611..2239"
                     /db_xref="GeneID:55454"
                     /db_xref="HGNC:HGNC:24292"
                     /db_xref="MIM:616616"
ORIGIN      
        1 mprrglilht rthwlllgla llcslvlfmy llecapqtdg naslpgvvge nygkeyyqal
       61 lqeqeehyqt ratslkrqia qlkqelqems ekmrslqerr nvgangigyq snkeqapsdl
      121 leflhsqidk aevsigaklp seygvipfes ftlmkvfqle mgltrhpeek pvrkdkrdel
      181 vevieaglev innpdeddeq edeegplgek lifnendfve gyyrterdkg tqyelffkka
      241 dlteyrhvtl frpfgplmkv ksemiditrs iiniivplae rteafvqfmq nfrdvcihqd
      301 kkihltvvyf gkeglskvks ilesvtsesn fhnytlvsln eefnrgrgln vgarawdkge
      361 vlmffcdvdi yfsaeflnsc rlnaepgkkv fypvvfslyn paivyanqev pppveqqlvh
      421 kkdsgfwrdf gfgmtcqyrs dfltiggfdm evkgwggedv hlyrkylhgd livirtpvpg
      481 lfhlwhekrc adeltpeqyr mciqskamne ashshlgmlv freeiethlh kqayrtnsea
      541 vg
//
LOCUS       XP_047283614            1116 aa            linear   PRI 20-MAR-2023
DEFINITION  myotubularin-related protein 13 isoform X4 [Homo sapiens].
ACCESSION   XP_047283614
VERSION     XP_047283614.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047427658.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000011.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1116
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
     Protein         1..1116
                     /product="myotubularin-related protein 13 isoform X4"
                     /calculated_mol_wt=125187
     Region          1..86
                     /region_name="uDENN"
                     /note="Domain always found upstream of DENN domain, found
                     in a variety of signalling proteins; smart00800"
                     /db_xref="CDD:214824"
     Region          117..298
                     /region_name="DENN"
                     /note="Domain found in a variety of signalling proteins,
                     always encircled by uDENN and dDENN; smart00799"
                     /db_xref="CDD:214823"
     Region          352..421
                     /region_name="dDENN"
                     /note="Domain always found downstream of DENN domain,
                     found in a variety of signalling proteins; smart00801"
                     /db_xref="CDD:129037"
     Region          487..711
                     /region_name="SBF2"
                     /note="Myotubularin protein; pfam12335"
                     /db_xref="CDD:432487"
     Region          839..957
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:450165"
     CDS             1..1116
                     /gene="SBF2"
                     /gene_synonym="CMT4B2; DENND7B; MTMR13"
                     /coded_by="XM_047427658.1:151..3501"
                     /db_xref="GeneID:81846"
                     /db_xref="HGNC:HGNC:2135"
                     /db_xref="MIM:607697"
ORIGIN      
        1 marladyfiv vgydhekpgs geglgkiiqr fpqkdwddtp fpqgielfcq pggwqlsrer
       61 kqptffvvvl tdidsdrhyc scltfyeaei nlqgtkkeei egeakvsgli qpaevfapks
      121 lvlvsrlyyp eifraclgli ytvyvdslnv sleslianlc aclvpaaggs qklfslgagd
      181 rqliqtplhd slpitgtsva llfqqlgiqn vlslfcavlt enkvlfhsas fqrlsdacra
      241 leslmfplky sypyipilpa qllevlsspt pfiigvhsvf ktdvhelldv iiadldggti
      301 kipecihlss lpepllhqtq salslilhpd levadhafpp prtalshskm ldkevravfl
      361 rlfaqlfqgy rsclqlirih aepvihfhkl vafeverikv eennpvkmik hvrelaeqlf
      421 knenpnphma fqkvprpteg shlrvhilpf peinearvqe liqenvaknq nappatriek
      481 kcvvpagppv vsimdkvttv fnsaqrlevv rncisfifen kiletektlp aalralkgka
      541 arqcltdelg lhvqqnrail dhqqfdyiir mmnctlqdcs sleeyniaaa llpltsafyr
      601 klapgvsqfa ytcvqdhpiw tnqqfwettf ynavqeqvrs lylsakednh aphlkqkdkl
      661 pddhyqekta mdlaaeqlrl wptlskstqq elvqheestv fsqaihfanl mvnllvpldt
      721 sknkllrtsa pgdwesgsns ivtnsiagsv aesydtesgf edsentdian svvrfitrfi
      781 dkvctesgvt qdhikslhcm ipgivamhie tleavhresr rlppiqkpki lrpallpgee
      841 ivceglrvll dpdgreeatg gllggpqllp aegalfltty rilfrgtphd qlvgeqtvvr
      901 sfpiasitke kkitmqnqlq qnmqeglqit sasfqlikva fdeevspevv eifkkqlmkf
      961 rypqsifstf afaagqttpq iilpkqkekn tsfrtfskti vkgakragkm tigrqyllkk
     1021 ktgtiveerv nrpgwneddd vsvsdeselp tsttlkasek stmeqlveka cfrdyqrlgl
     1081 gtisgsssrs rpeyfritas nrmyslcrsp eidkna
//
LOCUS       XP_047284961            1486 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylinositol 3-kinase C2 domain-containing subunit gamma
            isoform X2 [Homo sapiens].
ACCESSION   XP_047284961
VERSION     XP_047284961.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047429005.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000012.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1486
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
     Protein         1..1486
                     /product="phosphatidylinositol 3-kinase C2
                     domain-containing subunit gamma isoform X2"
                     /calculated_mol_wt=170552
     Region          287..369
                     /region_name="PI3K_rbd"
                     /note="PI3-kinase family, ras-binding domain; cl02484"
                     /db_xref="CDD:413336"
     Region          520..678
                     /region_name="C2A_PI3K_class_II"
                     /note="C2 domain first repeat present in class II
                     phosphatidylinositol 3-kinases (PI3Ks); cd04012"
                     /db_xref="CDD:175979"
     Region          692..860
                     /region_name="PI3Ka_II"
                     /note="Phosphoinositide 3-kinase (PI3K) class II,
                     accessory domain (PIK domain); PIK domain is conserved in
                     all PI3 and PI4-kinases. Its role is unclear but it has
                     been suggested to be involved in substrate presentation.
                     In general, class II PI3-kinases...; cd00869"
                     /db_xref="CDD:238441"
     Region          866..1219
                     /region_name="PI3Kc_C2_gamma"
                     /note="Catalytic domain of Class II Phosphoinositide
                     3-kinase gamma; cd05177"
                     /db_xref="CDD:270721"
     Site            order(936,938..940,942,960,962,965,996,1008..1011,1016,
                     1019,1079,1081,1091..1092)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270721"
     Site            1071..1079
                     /site_type="active"
                     /note="catalytic loop [active]"
                     /db_xref="CDD:270721"
     Site            1092..1116
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270721"
     Region          1248..1348
                     /region_name="PX_PI3K_C2_gamma"
                     /note="The phosphoinositide binding Phox Homology Domain
                     of the Gamma Isoform of Class II Phosphoinositide
                     3-Kinases; cd06896"
                     /db_xref="CDD:132806"
     Site            order(1279..1281,1304..1305,1317)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:132806"
     Region          1370..1482
                     /region_name="C2B_PI3K_class_II"
                     /note="C2 domain second repeat present in class II
                     phosphatidylinositol 3-kinases (PI3Ks); cd08381"
                     /db_xref="CDD:176027"
     Site            1419..1429
                     /site_type="active"
                     /note="nuclear localization signal [active]"
                     /db_xref="CDD:176027"
     CDS             1..1486
                     /gene="PIK3C2G"
                     /gene_synonym="PI3K-C2-gamma; PI3K-C2GAMMA"
                     /coded_by="XM_047429005.1:339..4799"
                     /db_xref="GeneID:5288"
                     /db_xref="HGNC:HGNC:8973"
                     /db_xref="MIM:609001"
ORIGIN      
        1 mayswqtdpn pneshekqye hqeflfvnqp hsssqvslgf dqivdeisgk iphyeseide
       61 ntffvptapk wdstghslne ahqislneft sksrelswhq vskapaigfs psvlpkpqnt
      121 nkecswgspi gkhhgaddsr fsilapsfts ldkinlekel enenhnyhig fessipptns
      181 sfssdfmpke enkrsghvni vepslmllkg slqpgmwest wqkniesigc siqlvevpqs
      241 sntslasfcn kvkkireryh aadvnfnsgk iwstttafpy qlfsktkfni hifidnstqp
      301 lhfmpcanyl vkdliaeilh fctndqllpk dhilsvcgse eflqndhclg shkmfqkdks
      361 viqlhlqksr eapgklsrkh eedhsqfyln qllefmhiwk vsrqclltli rkydfhlkyl
      421 lktqenvyni ieevkkicsv lgcvetkqit davnelslil qrkgenfyqs setsakglie
      481 kvttelstsi yqlinvycns fyadfqpvnv prctsylnpg lpshlsftvy aahnipetwv
      541 hsykafsftc wltyagkklc qvrnyrnipd kklffflvnw netinfplei kslpresmlt
      601 vklfgiacat nnanllawtc lplfpkeksi lgsmlfsmtl qseppvemit pgvwdvsqps
      661 pvtlqidfpa tgweymkpds eenrsnleep lkecikhiar lsqkqtplll seekkrylwf
      721 yrfycnnenc slplvlgsap gwdertvsem htilrrwtfs qplealgllt ssfpdqeirk
      781 vavqqldnll ndelleylpq lvqavkfewn lesplvqlll hrslqsiqva hrlywllkna
      841 eneayfkswy qkllaalqfc agkalndefs keqklikilg digervksas dhqrqevlkk
      901 eigrleeffq dvntchlpln palcikgidh dacsyftsna lplkitfina npmgknisii
      961 fkagddlrqd mlvlqliqvm dniwlqegld mqmiiyrcls tgkdqglvqm vpdavtlaki
     1021 hrhsgligpl kentikkwfs qhnhlkadye kalrnffysc agwcvvtfil gvcdrhndni
     1081 mltksghmfh idfgkflgha qtfggikrdr apfiftseme yfiteggknp qhfqdfvelc
     1141 crayniirkh sqlllnllem mlyaglpels giqdlkyvyn nlrpqdtdle atshftkkik
     1201 eslecfpvkl nnlihtlaqm saispaksts qtfpqescll sttrsierat ilgfskkssn
     1261 lyliqvthsn netslteksf eqfsklhsql qkqfasltlp efphwwhlpf tnsdhrrfrd
     1321 lnhymeqiln vshevtnsdc vlsfflseav qqtveesspv ylgekfpdkk pkvqlvisye
     1381 dvkltilvkh mknihlpdgs apsahvefyl lpypsevrrr ktksvpkctd ptyneivvyd
     1441 evtelqghvl mlivksktvf vgainirlcs vpldkekwyp lgnsii
//
LOCUS       XP_047286087             278 aa            linear   PRI 20-MAR-2023
DEFINITION  translation initiation factor IF-3, mitochondrial isoform X1 [Homo
            sapiens].
ACCESSION   XP_047286087
VERSION     XP_047286087.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430131.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..278
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..278
                     /product="translation initiation factor IF-3,
                     mitochondrial isoform X1"
                     /calculated_mol_wt=31594
     Region          65..240
                     /region_name="InfC"
                     /note="Translation initiation factor IF-3 [Translation,
                     ribosomal structure and biogenesis]; COG0290"
                     /db_xref="CDD:223367"
     Region          78..146
                     /region_name="IF3_N"
                     /note="Translation initiation factor IF-3, N-terminal
                     domain; pfam05198"
                     /db_xref="CDD:428366"
     CDS             1..278
                     /gene="MTIF3"
                     /gene_synonym="IF3mt"
                     /coded_by="XM_047430131.1:614..1450"
                     /db_xref="GeneID:219402"
                     /db_xref="HGNC:HGNC:29788"
                     /db_xref="MIM:619554"
ORIGIN      
        1 maalflkrlt lqtvksensc ircfgkhilq ktapaqlspi asaprlsfli hakafstaed
       61 tqnegkktkk nktafsnvgr kisqrvihlf dekgndlgnm hranvirlmd erdlrlvqrn
      121 tstepaeyql mtglqilqer qrlremekan pktgptlrke lilssnigqh dldtktkqiq
      181 qwikkkhlvq itikkgknvd vsenemeeif hqilqtmpgi atfssrpqav qggkalmcvl
      241 rafskneeka yketqetqer dtlnkdhgnd kesnvlhq
//
LOCUS       XP_047286582             297 aa            linear   PRI 20-MAR-2023
DEFINITION  dehydrogenase/reductase SDR family member 12 isoform X8 [Homo
            sapiens].
ACCESSION   XP_047286582
VERSION     XP_047286582.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047430626.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000013.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..297
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
     Protein         1..297
                     /product="dehydrogenase/reductase SDR family member 12
                     isoform X8"
                     /calculated_mol_wt=33412
     Region          33..>212
                     /region_name="NADB_Rossmann"
                     /note="Rossmann-fold NAD(P)(+)-binding proteins; cl21454"
                     /db_xref="CDD:451247"
     Site            order(98,155,175,179)
                     /site_type="active"
                     /db_xref="CDD:187535"
     CDS             1..297
                     /gene="DHRS12"
                     /gene_synonym="SDR40C1"
                     /coded_by="XM_047430626.1:119..1012"
                     /db_xref="GeneID:79758"
                     /db_xref="HGNC:HGNC:25832"
                     /db_xref="MIM:616163"
ORIGIN      
        1 mnlhvktlsl mtwrsrflee sfwsleetaa lakqlplksp seniflhivd lsdpkqiwkf
       61 venfkqehkl hvlinnagcm vnkreltedg leknfaantl gvyilttgli pvlekehdpr
      121 vqkglgscss vqglgmrsvs wsiqitvssg gmlvqklntn dlqsertpfd gtmvyaqnkv
      181 serqqvvlte rwaqghpaih fssmhpgwad tpdrneqelr kvvgeaqtas plprfleimm
      241 hegkcqpqgh ssndleacws sgggeqnslp dwphqlhdlr qltwalcssf llykqgn
//
LOCUS       XP_047287278             623 aa            linear   PRI 20-MAR-2023
DEFINITION  protein SIX6OS1 isoform X1 [Homo sapiens].
ACCESSION   XP_047287278
VERSION     XP_047287278.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047431322.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..623
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..623
                     /product="protein SIX6OS1 isoform X1"
                     /calculated_mol_wt=71890
     Region          73..623
                     /region_name="S6OS1"
                     /note="Six6 opposite strand transcript 1 family;
                     pfam15676"
                     /db_xref="CDD:434850"
     CDS             1..623
                     /gene="C14orf39"
                     /gene_synonym="POF18; Six6os1; SPGF52"
                     /coded_by="XM_047431322.1:986..2857"
                     /db_xref="GeneID:317761"
                     /db_xref="HGNC:HGNC:19849"
                     /db_xref="MIM:617307"
ORIGIN      
        1 mndslfvsld rlllefvfqy eqdistkeem iqrintsgsr irpgpgslhf sirshpsqas
       61 fplhslalfl leccediken kvticrihet inatdeeidh yckhseeikd ncrnwkptcd
      121 vfrkhedymq dqftvyqgtv ekdkemyhdy icqykevlkq yqlkysetpf sreyyekkre
      181 heeiqsrvla cteqlkmnet ifmkfrvpap fpsltkwtln ivnlrcetqd ilkhasnltk
      241 ssselkkevd emeieinyln qqisrhnetk alsetleekn kntenrkelk erifgkdehv
      301 ltlnktqssq lflpyesqkl vrpikmhsse prvadikees sakqsklani dfrqkendtq
      361 ifndsavdnh skcshittit ssqkfmqvrl ltpqkqsnsn qwsekgdkda eygdkgtvrq
      421 vreskctsqa iytehfgksv endsdeveer aenfprtsei piflgtpkav kapeslekik
      481 fpktppfein rnrnavpevq tekespglsf lmsytsrspg lnlfdssvfd teissdqfne
      541 hysarnlnpl sseqeignll ekpegedgft fsfpsdtsth tfgagkddfs fpfsfgqgqn
      601 sipssslkgf ssssqnttqf tff
//
LOCUS       XP_024305362            1417 aa            linear   PRI 20-MAR-2023
DEFINITION  melanoma inhibitory activity protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_024305362
VERSION     XP_024305362.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024449594.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1417
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1417
                     /product="melanoma inhibitory activity protein 2 isoform
                     X3"
                     /calculated_mol_wt=160307
     Region          31..103
                     /region_name="SH3_MIA2"
                     /note="Src Homology 3 domain of Melanoma Inhibitory
                     Activity 2 protein; cd11892"
                     /db_xref="CDD:212825"
     Site            order(48..50,53..57,78..79,90..92,94..95)
                     /site_type="other"
                     /note="putative polypeptide substrate binding site
                     [polypeptide binding]"
                     /db_xref="CDD:212825"
     Region          <682..>1112
                     /region_name="SbcC"
                     /note="DNA repair exonuclease SbcCD ATPase subunit
                     [Replication, recombination and repair]; COG0419"
                     /db_xref="CDD:223496"
     CDS             1..1417
                     /gene="MIA2"
                     /gene_synonym="CTAGE5; MEA6; MGEA; MGEA11; MGEA6; TALI"
                     /coded_by="XM_024449594.2:201..4454"
                     /db_xref="GeneID:4253"
                     /db_xref="HGNC:HGNC:18432"
                     /db_xref="MIM:602132"
ORIGIN      
        1 makfgvhril llaisltkcl estklladlk kcgdleceal inrvsamrdy rgpdcrylnf
       61 tkgeeisvyv klageredlw agskgkefgy fprdavqiee vfiseeiqms tkesdflcll
      121 gvsytfdned selngdygen iypyeedkde kssiyesdfq iepgfyatye stlfedqvpa
      181 leapedigst seskdweevv vesmeqdrip evhvppssav sgvkewfglg geqaeekafe
      241 sviepvqess frsrkiaved endleelnng epqtehqqes eseidsvpkt qselaseseh
      301 ipkpqstgwf gggftsylgf gdedtgleli aeesnpplqd fpnsissdke atvpcteilt
      361 ekkdtitnds lslkpswfdf gfailgfaya kedkimlddr kneedggade hehpltseld
      421 pekeqeieti kiietedqid kkpvsektde sdtipylkkf lynfdnpwnf qnipketelp
      481 fpkqildqnn vieneetgef sidnyptdnt kvmifkssys lsdmvsniel ptriheevyf
      541 epssskdsde nskpsvdteg palveidrsv entllnsqmv stdnslssqn yisqkedase
      601 fqilkylfqi dvydfmnsaf spivilterv vaalpegmrp dsnlygfpwe lvicaavvgf
      661 favlfflwrs frsvrsrlyv grekklalml sglieekskl lekfslvqke yegyevessl
      721 kdasfekeat eaqslevenq matceklnrs nseledeilc lekelkeeks khseqdelma
      781 diskriqsle deskslksqv aeakmtfkif qmneerlkia ikdalnensq lqesqkqllq
      841 eaevwkeqvs elnkqkvtfe dskvhaeqvl ndkeshiktl terllkmkdw aamlgeditd
      901 ddnlelemns esengayldn ppkgalkkli haaklnaslk tlegernqiy iqlsevdktk
      961 eeltehiknl qteqaslqse nthfenenqk lqqklkvmte lyqenemklh rkltveenyr
     1021 lekeeklskv dekishatee letyrkrakd leeelertih syqgqiishe kkahdnwlaa
     1081 rnaernlndl rkenahnrqk ltetelkfel lekdpyaldv pntafgrehs pygpsplgwp
     1141 ssetraflsp ptllegplrl spllpggggr gsrgpgnpld hqitnerges scdrltdphr
     1201 apsdtgslsp pwdqdrrmmf pppgqsypds alppqrqdrf csnsgrlsgp aelrsfnmps
     1261 ldkmdgsmps emessrndtk ddlgnlnvpd sslpaeneat gpgfvpppla pirgplfpvd
     1321 argpflrrgp pfpppppgam fgasrdyfpp gdfpgpppap famrnvyppr gfppylpprp
     1381 gffpppphse grsefpsgli ppsnepateh pepqqet
//
LOCUS       XP_011535090            1166 aa            linear   PRI 20-MAR-2023
DEFINITION  mitogen-activated protein kinase kinase kinase 9 isoform X1 [Homo
            sapiens].
ACCESSION   XP_011535090
VERSION     XP_011535090.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011536788.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1166
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..1166
                     /product="mitogen-activated protein kinase kinase kinase 9
                     isoform X1"
                     /calculated_mol_wt=128583
     Region          56..113
                     /region_name="SH3_MLK1-3"
                     /note="Src Homology 3 domain of Mixed Lineage Kinases 1,
                     2, and 3; cd12059"
                     /db_xref="CDD:212992"
     Site            order(61,63,66,70,93..94,107,109..110)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212992"
     Region          137..406
                     /region_name="STKc_MLK1"
                     /note="Catalytic domain of the Serine/Threonine Kinase,
                     Mixed Lineage Kinase 1; cd14145"
                     /db_xref="CDD:271047"
     Site            order(150..154,158,169,171,204,220..223,227,229,268,270,
                     272..273,275,294,297,311..314)
                     /site_type="active"
                     /db_xref="CDD:271047"
     Site            order(150..154,158,169,171,204,220..223,227,268,270,
                     272..273,275,294)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:271047"
     Site            order(154,227,229,268,270,272,297,311..314)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271047"
     Site            293..314
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:271047"
     CDS             1..1166
                     /gene="MAP3K9"
                     /gene_synonym="MEKK9; MLK1; PRKE1"
                     /coded_by="XM_011536788.4:343..3843"
                     /db_xref="GeneID:4293"
                     /db_xref="HGNC:HGNC:6861"
                     /db_xref="MIM:600136"
ORIGIN      
        1 mepsrallgc lasaaaaapp gedgagagae eeeeeeeeaa aavgpgelgc daplpywtav
       61 feyeaagede ltlrlgdvve vlskdsqvsg degwwtgqln qrvgifpsny vtprsafssr
      121 cqpggedpsc yppiqlleid faeltleeii giggfgkvyr afwigdevav kaarhdpded
      181 isqtienvrq eaklfamlkh pniialrgvc lkepnlclvm efarggplnr vlsgkrippd
      241 ilvnwavqia rgmnylhdea ivpiihrdlk ssnililqkv engdlsnkil kitdfglare
      301 whrttkmsaa gtyawmapev irasmfskgs dvwsygvllw elltgevpfr gidglavayg
      361 vamnklalpi pstcpepfak lmedcwnpdp hsrpsftnil dqlttieesg ffempkdsfh
      421 clqdnwkhei qemfdqlrak ekelrtweee ltraalqqkn qeellrrreq elaereidil
      481 erelniiihq lcqekprvkk rkgkfrksrl klkdgnrisl psdfqhkftv qasptmdkrk
      541 slinsrsspp asptiiprlr aiqcetvsqi swgqntqghl spalsshrlv qacsihnfch
      601 lsstmciymh iltpgesskt wgrssvvpke egeeeekrap kkkgrtwgpg tlgqkelasg
      661 degspqrrek anglstpses phfhlglksl vdgykqwsss apnlvkgprs spalpgftsl
      721 memallaasw vvpidieede dsegpgsges rlqhspsqsy lcipfprged gdgpssdgih
      781 eeptpvnsat stpqltptns lkrggahhrr cevallgcga vlaatglgfd lleagkcqll
      841 pleepeppar eekkrreglf qrssrprrst sppsrklfkk eepmlllgdp sasltllsls
      901 sisecnstrs llrsdsdeiv vyempvspve applspcthn plvnvrverf krdpnqsltp
      961 thvtlttpsq psshrrtpsd galkpetlla srspssngls pspgagmlkt pspsrdpgef
     1021 prlpdpnvvf pptprrwntq qdstlerpkt leflprprps anrqrldpww fvspsharst
     1081 spanssstet psnldscfas ssstveerpg lpallpfqag plpptertll dldaegqsqd
     1141 stvplcrael nthrpapyei qqefws
//
LOCUS       XP_005268048             969 aa            linear   PRI 20-MAR-2023
DEFINITION  neuronal PAS domain-containing protein 3 isoform X4 [Homo sapiens].
ACCESSION   XP_005268048
VERSION     XP_005268048.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005267991.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000014.9) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Jun 6, 2016 this sequence version replaced XP_005268048.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..969
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
     Protein         1..969
                     /product="neuronal PAS domain-containing protein 3 isoform
                     X4"
                     /calculated_mol_wt=103776
     Region          84..160
                     /region_name="bHLH-PAS_NPAS3_PASD6"
                     /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS)
                     domain found in neuronal PAS domain-containing protein 3
                     (NPAS3) and similar proteins; cd19732"
                     /db_xref="CDD:381575"
     Site            order(89,91..93,97,99..100,104,125..126)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381575"
     Site            order(99,102..103,106,109..110,113,115..116,127,130..132,
                     134,136..140)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:381575"
     Region          188..246
                     /region_name="PAS"
                     /note="PAS domain; smart00091"
                     /db_xref="CDD:214512"
     Region          379..466
                     /region_name="PAS_3"
                     /note="PAS fold; pfam08447"
                     /db_xref="CDD:430001"
     Site            order(382,386,392,405..408,434,439)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238075"
     Site            order(402,406,414,417..418,446,448)
                     /site_type="other"
                     /note="heme pocket [chemical binding]"
                     /db_xref="CDD:238075"
     Region          <506..631
                     /region_name="MSCRAMM_ClfA"
                     /note="MSCRAMM family adhesin clumping factor ClfA;
                     NF033609"
                     /db_xref="CDD:411231"
     CDS             1..969
                     /gene="NPAS3"
                     /gene_synonym="bHLHe12; MOP6; PASD6"
                     /coded_by="XM_005267991.4:62..2971"
                     /db_xref="GeneID:64067"
                     /db_xref="HGNC:HGNC:19311"
                     /db_xref="MIM:609430"
ORIGIN      
        1 mirifpdfsv qvtaaaagga aagvpagagm gragaaangt pqnvqgitsy qqritaqhpl
       61 pnqsecrkiy rydgiycest yqnlqalrke ksrdaarsrr gkenfefyel akllplpaai
      121 tsqldkasii rltisylkmr dfanqgdppw nlrmegpppn tsvkvigaqr rrspsalaie
      181 vfeahlgshi lqsldgfvfa lnqegkflyi setvsiylgl sqveltgssv fdyvhpgdhv
      241 emaeqlgmkl ppgrgllsqg taedgassas sssqsetpep vestspsllt tdntlersff
      301 irmkstltkr gvhikssgyk vihitgrlrl rvslshgrtv psqimglvvv ahalppptin
      361 evridchmfv trvnmdlnii ycenrisdym dltpvdivgk rcyhfihaed vegirhshld
      421 llnkgqcvtk yyrwmqkngg yiwiqssati ainaknanek niiwvnylls npeykdtpmd
      481 iaqlphlpek tsessetsds esdskdtsgi tednensksd ekgnqsense dpepdrkksg
      541 nacdndmncn ddghsssnpd srdsddsfeh sdfenpkage dgfgalgamq ikveryvese
      601 sdlrlqnces ltsdsakdsd sageagaqas skhqkrkkrr krqkggsasr rrlssasspg
      661 gldaglvepp rllsspnsas vlkikteise pinfdndssi wnyppnreis rnespysmtk
      721 ppssehfpsp qggggggggg gglhvaipds vltppgadga aarktqfgas ataalapvas
      781 dplspplsas prdkhpgngg ggggggggag gggpsasnsl lytgdlealq rlqagnvvlp
      841 lvhrvtgtla atstaaqrvy ttgtiryapa evtlamqsnl lpnahavnfv dvnspgfgld
      901 pktpmemlyh hvhrlnmsgp fggavsaasl tqmpagnvft taeglfstlp fpvysngiha
      961 aqtlerked
//
LOCUS       XP_011520535             362 aa            linear   PRI 20-MAR-2023
DEFINITION  homer protein homolog 2 isoform X2 [Homo sapiens].
ACCESSION   XP_011520535
VERSION     XP_011520535.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011522233.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..362
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     Protein         1..362
                     /product="homer protein homolog 2 isoform X2"
                     /calculated_mol_wt=41376
     Region          11..119
                     /region_name="EVH1_Homer_Vesl"
                     /note="Homer/Vesl family proteins EVH1 domain; cd01206"
                     /db_xref="CDD:269917"
     Site            order(32,78,82,97)
                     /site_type="other"
                     /note="proline-rich peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:269917"
     Region          <101..341
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     CDS             1..362
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /coded_by="XM_011522233.4:16..1104"
                     /db_xref="GeneID:9455"
                     /db_xref="HGNC:HGNC:17513"
                     /db_xref="MIM:604799"
ORIGIN      
        1 mgpgarwvgr eqpifttrah vfqidpntkk nwmpaskqav tvsyfydvtr nsyriisvdg
       61 akviinstit pnmtftktsq kfgqwadsra ntvfglgfss eqqltkfaek fqevkeaaki
      121 akdktqekie tssnhsqesg retpsstqas svngtddeka shagpanthl ksendklkia
      181 ltqsaanvkk weielqtlre snarlttalq esaasveqwk rqfsicrden drlrnkidel
      241 eeqcseinre kekntqlkrr ieeleaelre ketelkdlrk qseiipqlms eceyvsekle
      301 aaerdnqnle dkvrslktdi eeskyrqrhl kvelksflev ldgkiddlhd frrglsklgt
      361 dn
//
LOCUS       XP_047289873            1890 aa            linear   PRI 20-MAR-2023
DEFINITION  trinucleotide repeat-containing gene 6A protein isoform X15 [Homo
            sapiens].
ACCESSION   XP_047289873
VERSION     XP_047289873.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047433917.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1890
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..1890
                     /product="trinucleotide repeat-containing gene 6A protein
                     isoform X15"
                     /calculated_mol_wt=202615
     Region          1075..1202
                     /region_name="Ago_hook"
                     /note="Argonaute hook; pfam10427"
                     /db_xref="CDD:431279"
     Region          1434..1695
                     /region_name="TNRC6-PABC_bdg"
                     /note="TNRC6-PABC binding domain; pfam16608"
                     /db_xref="CDD:435458"
     Region          1703..1794
                     /region_name="RRM_TNRC6A"
                     /note="RNA recognition motif (RRM) found in vertebrate
                     GW182 autoantigen; cd12711"
                     /db_xref="CDD:410110"
     CDS             1..1890
                     /gene="TNRC6A"
                     /gene_synonym="CAGH26; FAME6; GW1; GW182; TNRC6"
                     /coded_by="XM_047433917.1:192..5864"
                     /db_xref="GeneID:27327"
                     /db_xref="HGNC:HGNC:11969"
                     /db_xref="MIM:610739"
ORIGIN      
        1 mreleakatk dvernlsrdl vqeeeqlmee kkkkkddkkk keaaqkkate qkikvpeqik
       61 psvsqpqpan snngtstats tnnnakrata nnqqpqqqqq qqqpqqqqpq qqpqpqpqqq
      121 qpqqqpqalp ryprevpprf rhqehkqllk rgqhfpviaa nlgsavkvln sqsessaltn
      181 qqpqnngevq nsknqsdinh stsgshyens qrgpvsstsd sstncknavv sdlsekeawp
      241 sapgsdpela secmdadsas sseserniti masgntggek dglrnstglg sqnkfvvgss
      301 snnvghgsst gpwgfshgai istcqvsvda pesksessnn rmnawgtvss ssngglnpst
      361 lnsasnhgaw pvlennglal kgpvgsgssg iniqcstigq mpnnqsinsk vsggsthgtw
      421 gslqetcese vsgtqkvsfs gqpqnittem tgpnnttnfm tsslpnsgsv qnnelpssnt
      481 gawrvstmnh pqmqapsgmn gtslshlsng esksggsygt twgaygsnys gdkcsgpngq
      541 angdtvnatl mqpgvngpmg tnfqvntnkg ggvwesgaan sqstswgsgn gansggsrrg
      601 wgtpaqntgt nlpsvewnkl psnqhsndsa ngngktftng wksteeedqg satsqtneqs
      661 svwaktggtv esdgstestg rleekgtges qsrdrrkidq htllqsivnr tdldprvlsn
      721 sgwgqtpikq ntawdtetsp rgerktdngt eawgssatqt fnsgacidkt spngndtssv
      781 sgwgdpkpal rwgdskgsnc qggweddsaa tgmvksnqwg nckeekaawn dsqknkqgwg
      841 dgqkssqgws vsasdnwget srnnhwgean kksssggsds drsvsgwnel gktssftwgn
      901 ninpnnssgw desskptpsq gwgdppksnq slgwgdsskp vsspdwnkqq divgswgipp
      961 atgkppgtgw lggpipapak eeeptgweep spesirrkme iddgtsawgd pskynyknvn
     1021 mwnknvpngn srsdqqaqvh qlltpasais nkeassgsgw gepwgepstp attvdngtsa
     1081 wgkpidsgps wgepiaaass tstwgsssvg pqalsksgpk smqdgwcgdd mplpgnrptg
     1141 weeeedveig mwnsnssqel nsslnwppyt kkmsskglsg kkrrrergmm kggnkqeeaw
     1201 inpfvkqfsn isfsrdspee nvqsnkmdls ggmlqdkrme idkhslnigd ynrtvgkgpg
     1261 srpqiskess mernpyfdkn gnpsmfgvgn taaqprgmqq ppaqplsssq pnlraqvppp
     1321 llspqvamln qlsqlnqlsq isqlqrllaq qqraqsqrsv psgnrpqqdq qgrplsvqqq
     1381 mmqqsrqldp nllvkqqtpp sqqqplhqpa mksfldnvmp httpelqkgp spinafsnfp
     1441 iglnsnlnvn mdmnsikepq srlrkwttvd sisvntsldq nsskhgaiss gfrleespfv
     1501 pydfmnssts pasppgsigd gwprakspng sssvnwppef rpgepwkgyp nidpetdpyv
     1561 tpgsvinnls intvrevdhl rdrnsgssss lnttlpstsa wssirasnyn vplsstaqst
     1621 sarnsdsklt wspgsvtnts lahelwkvpl ppknitapsr pppgltgqkp plstwdnspl
     1681 rigggwgnsd arytpgsswg esssgritnw lvlknltpqi dgstlrtlcm qhgplitfhl
     1741 nlphgnalvr ysskeevvka qkslhmcvlg nttilaefas eeeisrffaq sqsltpspgw
     1801 qslgssqsrl gsldcshsfs srtdlnhwng aglsgtncgd lhgtslwgtp hystslwgpp
     1861 sssdprgiss pspinaflsv dhlggggesm
//
LOCUS       XP_047290166            4297 aa            linear   PRI 20-MAR-2023
DEFINITION  polycystin-1 isoform X5 [Homo sapiens].
ACCESSION   XP_047290166
VERSION     XP_047290166.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047434210.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000016.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4297
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
     Protein         1..4297
                     /product="polycystin-1 isoform X5"
                     /calculated_mol_wt=462398
     Region          42..65
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          46..2722
                     /region_name="PCC"
                     /note="polycystin cation channel protein; TIGR00864"
                     /db_xref="CDD:188093"
     Region          66..78
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          3005..3054
                     /region_name="GPS"
                     /note="GPCR proteolysis site, GPS, motif; cl02559"
                     /db_xref="CDD:445830"
     Region          3112..3231
                     /region_name="PLAT_polycystin"
                     /note="PLAT/LH2 domain of polycystin-1 like proteins.
                     Polycystins are a large family of membrane proteins
                     composed of multiple domains, present in fish,
                     invertebrates, mammals, and humans that are widely
                     expressed in various cell types and whose biological...;
                     cd01752"
                     /db_xref="CDD:238850"
     Region          3707..4107
                     /region_name="PKD_channel"
                     /note="Polycystin cation channel; pfam08016"
                     /db_xref="CDD:400395"
     CDS             1..4297
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /coded_by="XM_047434210.1:1259..14152"
                     /db_xref="GeneID:5310"
                     /db_xref="HGNC:HGNC:9008"
                     /db_xref="MIM:601313"
ORIGIN      
        1 mereapgasa qrliclgtqp rdvshnllra ldvgllanls alaeldisnn kistleegif
       61 anlfnlsein lsgnpfecdc glawlprwae eqqvrvvqpe aatcagpgsl agqpllgipl
      121 ldsgcgeeyv aclpdnssgt vaavsfsaah egllqpeacs afcfstgqgl aalseqgwcl
      181 cgaaqpssas faclslcsgp ppppaptcrg ptllqhvfpa spgatlvgph gplasgqlaa
      241 fhiaaplpvt atrwdfgdgs aevdaagpaa shryvlpgry hvtavlalga gsallgtdvq
      301 veaapaalel vcpssvqsde sldlsiqnrg gsgleaaysi valgeepara vhplcpsdte
      361 ifpgnghcyr lvvekaawlq aqeqcqawag aalamvdspa vqrflvsrvt rsldvwigfs
      421 tvqgvevgpa pqgeafsles cqnwlpgeph pataehcvrl gptgwcntdl csaphsyvce
      481 lqpggpvqda enllvgapsg dlqgpltpla qqdglsaphe pvevmvfpgl rlsreafltt
      541 aefgtqelrr paqlrlqvyr llstagtpen gsepesrspd nrtqlapacm pggrwcpgan
      601 iclpldasch pqacangcts gpglpgapya lwreflfsvp agppaqysll lpvcqvlacv
      661 lspcvprsat vlpvlvtstv grllevtlhg qdvlmlpgdl vglqhdagpg allhcspapg
      721 hpgprapyls anasswlphl paqlegtwac pacalrllaa teqltvllgl rpnpglrlpg
      781 ryevraevgn gvsrhnlscs fdvvspvagl rviypaprdg rlyvptngsa lvlqvdsgan
      841 atatarwpgg svsarfenvc palvatfvpg cpwetndtlf svvalpwlse gehvvdvvve
      901 nsasranlsl rvtaeepicg lratpspear vlqgvlvrys pvveagsdmv frwtindkqs
      961 ltfqnvvfnv iyqsaavfkl spedaamavl tasnhvsnvt vnynvtverm nrmqglqvst
     1021 vpavlspnat laltagvlvd savevaflwt fgdgeqalhq fqppynesfp vpdpsvaqvl
     1081 vehnvmhtya apgeylltvl asnafenltq qvpvsvrasl psvavgvsdg vlvagrpvtf
     1141 yphplpspgg vlytwdfgdg spvltqsqpa anhtyasrgt yhvrlevnnt vsgaaaqadv
     1201 rvfeelrgls vdmslaveqg apvvvsaavq tgdnitwtfd mgdgtvlsgp eatvehvylr
     1261 aqnctvtvga aspaghlars lhvlvfvlev lrvepaacip tqpdarltay vtgnpahylf
     1321 dwtfgdgssn ttvrgcptvt hnftrsgtfp lalvlssrvn rahyftsicv epevgnvtlq
     1381 perqfvqlgd eawlvacawp pfpyrytwdf gteeaaptra rgpevtfiyr dpgsylvtvt
     1441 asnnisaand salvevqepv lvtsikvngs lglelqqpyl fsavgrgrpa sylwdlgdgg
     1501 wlegpevtha ynstgdftvr vagwnevsrs eawlnvtvkr rvrglvvnas rtvvplngsv
     1561 sfstsleags dvryswvlcd rctpipggpt isytfrsvgt fniivtaene vgsaqdsifv
     1621 yvlqlieglq vvgggryfpt nhtvqlqavv rdgtnvsysw tawrdrgpal agsgkgfslt
     1681 vleagtyhvq lratnmlgsa wadctmdfve pvgwlmvaas pnpaavntsv tlsaelaggs
     1741 gvvytwslee glswetsepf tthsfptpgl hlvtmtagnp lgsanatvev dvqvpvsgls
     1801 irasepggsf vaagssvpfw gqlatgtnvs wcwavpggss krgphvtmvf pdagtfsirl
     1861 nasnavswvs atynltaeep ivglvlwass kvvapgqlvh fqillaagsa vtfrlqvgga
     1921 npevlpgprf shsfprvgdh vvsvrgknhv swaqaqvriv vleavsglqv pnccepgiat
     1981 gternftarv qrgsrvayaw yfslqkvqgd slvilsgrdv tytpvaagll eiqvrafnal
     2041 gsenrtlvle vqdavqyval qsgpcftnrs aqfeaatsps prrvayhwdf gdgspgqdtd
     2101 epraehsylr pgdyrvqvna snlvsffvaq atvtvqvlac repevdvvlp lqvlmrrsqr
     2161 nyleahvdlr dcvtyqteyr wevyrtascq rpgrparval pgvdvsrprl vlprlalpvg
     2221 hycfvfvvsf gdtpltqsiq anvtvaperl vpiieggsyr vwsdtrdlvl dgsesydpnl
     2281 edgdqtplsf hwacvastqr eaggcalnfg prgsstvtip rerlaagvey tfsltvwkag
     2341 rkeeatnqtv lirsgrvpiv slecvsckaq avyevsrssy vylegrclnc ssgskrgrwa
     2401 artfsnktlv ldetttstgs agmrlvlrrg vlrdgegytf tltvlgrsge eegcasirls
     2461 pnrpplggsc rlfplgavha lttkvhfect gwhdaedaga plvyalllrr crqghceefc
     2521 vykgslssyg avlppgfrph fevglavvvq dqlgaavval nrslaitlpe pngsatgltv
     2581 wlhgltasvl pgllrqadpq hvieyslalv tvlneyeral dvaaepkher qhraqirkni
     2641 tetlvslrvh tvddiqqiaa alaqcmgpsr elvcrsclkq tlhkleamml ilqaettagt
     2701 vtptaigdsi lnitgdlihl assdvrapqp selgaespsr mvasqaynlt salmrilmrs
     2761 rvlneepltl ageeivaqgk rsdprsllcy ggapgpgchf sipeafsgal anlsdvvqli
     2821 flvdsnpfpf gyisnytvst kvasmafqtq agaqipierl aseraitvkv pnnsdwaarg
     2881 hrssansans vvvqpqasvg avvtldssnp aaglhlqlny tlldghylse epepylavyl
     2941 hseprpnehn csasrrirpe slqgadhrpy tffispgsrd pagsyhlnls shfrwsalqv
     3001 svglytslcq yfseedmvwr tegllpleet sprqavcltr hltafgaslf vppshvrfvf
     3061 peptadvnyi vmltcavclv tymvmaailh kldqldasrg raipfcgqrg rfkyeilvkt
     3121 gwgrgsgtta hvgimlygvd srsghrhldg drafhrnsld ifriatphsl gsvwkirvwh
     3181 dnkglspawf lqhvivrdlq tarsafflvn dwlsvetean gglvekevla asdaallrfr
     3241 rllvaelqrg ffdkhiwlsi wdrpprsrft riqratccvl liclflgana vwygavgdsa
     3301 ystghvsrls plsvdtvavg lvssvvvypv ylailflfrm srskvagsps ptpagqqvld
     3361 idscldssvl dssfltfsgl haeqafvgqm ksdlflddsk slvcwpsgeg tlswpdllsd
     3421 psivgsnlrq largqaghgl gpeedgfsla spyspaksfs asdedliqqv laegvsspap
     3481 tqdthmetdl lsslsstpge ktetlalqrl gelgppspgl nweqpqaarl srtglveglr
     3541 krllpawcas lahglslllv avavavsgwv gasfppgvsv awllsssasf lasflgwepl
     3601 kvllealyfs lvakrlhpde ddtlvespav tpvsarvprv rpphgfalfl akeearkvkr
     3661 lhgmlrsllv ymlfllvtll asygdaschg hayrlqsaik qelhsrafla itrseelwpw
     3721 mahvllpyvh gnqsspelgp prlrqvrlqe alypdppgpr vhtcsaaggf stsdydvgwe
     3781 sphngsgtwa ysapdllgaw swgscavyds ggyvqelgls leesrdrlrf lqlhnwldnr
     3841 sravfleltr yspavglhaa vtlrlefpaa gralaalsvr pfalrrlsag lslplltsvc
     3901 lllfavhfav aeartwhreg rwrvlrlgaw arwllvalta atalvrlaql gaadrqwtrf
     3961 vrgrprrfts fdqvaqlssa arglaasllf lllvkaaqql rfvrqwsvfg ktlcralpel
     4021 lgvtlglvvl gvayaqlail lvsscvdslw svaqallvlc pgtglstlcp aeswhlspll
     4081 cvglwalrlw galrlgavil rwryhalrge lyrpawepqd yemvelflrr lrlwmglskv
     4141 kefrhkvrfe gmeplpsrss rgskvspdvp ppsagsdash pstsssqldg lsvslgrlgt
     4201 rcepepsrlq avfealltqf drlnqatedv yqleqqlhsl qgrrssrapa gssrgpspgl
     4261 rpalpsrlar asrgvdlatg psrtplrakn kvhpsst
//
LOCUS       XP_047299733            1588 aa            linear   PRI 20-MAR-2023
DEFINITION  CLIP-associating protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_047299733
VERSION     XP_047299733.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443777.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1588
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1588
                     /product="CLIP-associating protein 1 isoform X1"
                     /calculated_mol_wt=174689
     Region          <77..208
                     /region_name="CLASP_N"
                     /note="CLASP N terminal; pfam12348"
                     /db_xref="CDD:432496"
     Region          93..120
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          132..157
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          167..194
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          168..198
                     /region_name="HEAT"
                     /note="HEAT repeat; pfam02985"
                     /db_xref="CDD:427093"
     Region          324..537
                     /region_name="CLASP_N"
                     /note="CLASP N terminal; pfam12348"
                     /db_xref="CDD:432496"
     Region          1331..1360
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(1345,1353,1356,1359..1360,1414..1415,1418,
                     1421..1422,1425,1455..1456,1459,1462..1463,1466,
                     1501..1502,1532..1533,1536)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          1375..1425
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          1435..1467
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          1512..1538
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     CDS             1..1588
                     /gene="CLASP1"
                     /gene_synonym="MAST1"
                     /coded_by="XM_047443777.1:629..5395"
                     /db_xref="GeneID:23332"
                     /db_xref="HGNC:HGNC:17088"
                     /db_xref="MIM:605852"
ORIGIN      
        1 meprmescla qvlqkdvgkr lqvgqelidy fsdkqksadl ehdqtmldkl vdglatswvn
       61 ssnykvvllg mdilsalvtr lqdrfkaqig tvlpslidrl gdakdsvreq dqtlllkimd
      121 qaanpqyvwd rmlggfkhkn frtregiclc liatlnasga qtltlskivp hicnllgdpn
      181 sqvrdaains lveiyrhvge rvradlskkg lpqsrlnvif tkfdevqksg nmiqsandkn
      241 fddedsvdgn rpssasstss kappssrrnv gmgttrrlgs stlgskssaa kegagavdee
      301 dfikafddvp vvqiyssrdl eesinkirei lsddkhdweq rvnalkkirs lllagaaeyd
      361 nffqhlrlld gafklsakdl rsqvvreaci tlghlssvlg nkfdhgaeai mptifnlipn
      421 sakimatsgv vavrliirht hiprlipvit snctsksvav rrrcfefldl llqewqthsl
      481 erhisvlaet ikkgihdads eariearkcy wgfhshfsre aehlyhtles syqkalqshl
      541 knsdsivslp qsdrsssssq eslnrplsak rsptgsttsr astvstksvs ttgslqrsrs
      601 didvnaaasa kskvssssgt tpfssaaalp pgsyaslesr hmredmeyig ldsdgtttka
      661 egrirtrrqs sgsatnvast pdnrgrsrak vvsqsqrsrs anpagagsrs sspgkllgsg
      721 yggltggssr gppvtpssek rskiprsqgc sretspnrig larssriprp smsqgcsrdt
      781 sressrdtsp argfppldrf glgqpgripg svnamrvlst stdleaavad alllgdsrsk
      841 kkpvrrryep ygmysdddan sdassvcser sygsrnggip hylrqtedva evlnhcassn
      901 wserkegllg lqnllksqrt lsrvelkrlc eiftrmfadp hskiadseae cedkegnlfp
      961 sevsctrvfs mfletlvdfi iihkddlqdw lfvlltqllk kmgadllgsv qakvqkaldv
     1021 trdsfpfdqq fnilmrfivd qtqtpnlkvk vailkyiesl arqmdptdfv nssetrlavs
     1081 riitwttepk ssdvrksslq rsrvgedfpt rsastcsgpg egnleesckq aaqivlislf
     1141 elntpeftml lgalpktfqd gatkllhnhl knssntsvgs psntigrtps rhtssrtspl
     1201 tsptncshgg lspsmldydt enlnseeiys slrgvteaie kfsfrsqedl nepikrdgkk
     1261 ecdivsrdgg aaspategrg gseveggrta ldnktsllnt qpprafpgpr ardynpypys
     1321 daintydkta lkeavfdddm eqlrdvpidh sdlvadllke lsnhnervee rkgallellk
     1381 itredslgvw eehfktilll lletlgdkdh siralalrvl reilrnqpar fknyaeltim
     1441 ktleahkdsh kevvraaeea astlassihp eqcikvlcpi iqtadypinl aaikmqtkvv
     1501 eriakesllq llvdiipgll qgydntessv rkasvfclva iysvigedlk phlaqltgsk
     1561 mkllnlyikr aqttnsnsss ssdvsths
//
LOCUS       XP_006712446            1454 aa            linear   PRI 20-MAR-2023
DEFINITION  CLIP-associating protein 1 isoform X21 [Homo sapiens].
ACCESSION   XP_006712446
VERSION     XP_006712446.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006712383.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1454
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1454
                     /product="CLIP-associating protein 1 isoform X21"
                     /calculated_mol_wt=160252
     Region          <77..208
                     /region_name="CLASP_N"
                     /note="CLASP N terminal; pfam12348"
                     /db_xref="CDD:432496"
     Region          93..120
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          132..157
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          167..194
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          168..198
                     /region_name="HEAT"
                     /note="HEAT repeat; pfam02985"
                     /db_xref="CDD:427093"
     Region          324..537
                     /region_name="CLASP_N"
                     /note="CLASP N terminal; pfam12348"
                     /db_xref="CDD:432496"
     Region          812..839
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(828..829,832,835..836,839,870..871,874,877..878,881,
                     912..913,916,919..920,951..952,955,958..959)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          851..882
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          891..920
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          931..960
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          1197..1226
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(1211,1219,1222,1225..1226,1280..1281,1284,
                     1287..1288,1291,1321..1322,1325,1328..1329,1332,
                     1367..1368,1398..1399,1402)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          1241..1291
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          1301..1333
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          1378..1404
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     CDS             1..1454
                     /gene="CLASP1"
                     /gene_synonym="MAST1"
                     /coded_by="XM_006712383.2:377..4741"
                     /db_xref="GeneID:23332"
                     /db_xref="HGNC:HGNC:17088"
                     /db_xref="MIM:605852"
ORIGIN      
        1 meprmescla qvlqkdvgkr lqvgqelidy fsdkqksadl ehdqtmldkl vdglatswvn
       61 ssnykvvllg mdilsalvtr lqdrfkaqig tvlpslidrl gdakdsvreq dqtlllkimd
      121 qaanpqyvwd rmlggfkhkn frtregiclc liatlnasga qtltlskivp hicnllgdpn
      181 sqvrdaains lveiyrhvge rvradlskkg lpqsrlnvif tkfdevqksg nmiqsandkn
      241 fddedsvdgn rpssasstss kappssrrnv gmgttrrlgs stlgskssaa kegagavdee
      301 dfikafddvp vvqiyssrdl eesinkirei lsddkhdweq rvnalkkirs lllagaaeyd
      361 nffqhlrlld gafklsakdl rsqvvreaci tlghlssvlg nkfdhgaeai mptifnlipn
      421 sakimatsgv vavrliirht hiprlipvit snctsksvav rrrcfefldl llqewqthsl
      481 erhisvlaet ikkgihdads eariearkcy wgfhshfsre aehlyhtles syqkalqshl
      541 knsdsivslp qsdrsssssq eslnrplsak rsptgsttsr astvstksvs ttgslqrsrs
      601 didvnaaasa kskvssssgt tpfssaaalp pgsyaslgri rtrrqssgsa tnvastpdnr
      661 grsrakvvsq sqpgsrsssp gkllgsgygg ltggssrgpp vtpssekrsk iprsqgcsre
      721 tspnrigldr fglgqpgrip gsvnamrvls tstdleaava dalkkpvrrr yepygmysdd
      781 dansdassvc sersygsrng giphylrqte dvaevlnhca ssnwserkeg llglqnllks
      841 qrtlsrvelk rlceiftrmf adphskrvfs mfletlvdfi iihkddlqdw lfvlltqllk
      901 kmgadllgsv qakvqkaldv trdsfpfdqq fnilmrfivd qtqtpnlkvk vailkyiesl
      961 arqmdptdfv nssetrlavs riitwttepk ssdvrkaaqi vlislfelnt peftmllgal
     1021 pktfqdgatk llhnhlknss ntsvgspsnt igrtpsrhts srtspltspt ncshgglsps
     1081 mldydtenln seeiysslrg vteaiekfsf rsqedlnepi krdgkkecdi vsrdggaasp
     1141 ategrggsev eggrtaldnk tsllntqppr afpgprardy npypysdain tydktalkea
     1201 vfdddmeqlr dvpidhsdlv adllkelsnh nerveerkga llellkitre dslgvweehf
     1261 ktilllllet lgdkdhsira lalrvlreil rnqparfkny aeltimktle ahkdshkevv
     1321 raaeeaastl assihpeqci kvlcpiiqta dypinlaaik mqtkvveria kesllqllvd
     1381 iipgllqgyd ntessvrkas vfclvaiysv igedlkphla qltgskmkll nlyikraqtt
     1441 nsnsssssdv sths
//
LOCUS       XP_047299755            1401 aa            linear   PRI 20-MAR-2023
DEFINITION  obscurin-like protein 1 isoform X9 [Homo sapiens].
ACCESSION   XP_047299755
VERSION     XP_047299755.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443799.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1401
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1401
                     /product="obscurin-like protein 1 isoform X9"
                     /calculated_mol_wt=152931
     Region          12..88
                     /region_name="I-set"
                     /note="Immunoglobulin I-set domain; pfam07679"
                     /db_xref="CDD:400151"
     Region          29..33
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          42..46
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          67..71
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          81..86
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          134..226
                     /region_name="IG_like"
                     /note="Immunoglobulin like; smart00410"
                     /db_xref="CDD:214653"
     Region          145..149
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          158..162
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          182..196
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          206..211
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          219..222
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          257..336
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          263..267
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          276..280
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          302..306
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          316..321
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          329..332
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          342..426
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          358..362
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          371..374
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          395..399
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          409..414
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          423..426
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          518..602
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(518,584,599)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          736..801
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          746..750
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          771..775
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          785..790
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          794..797
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          827..892
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          837..841
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          862..866
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          876..881
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          885..888
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          918..983
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          928..932
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          953..957
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          967..972
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          976..979
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1009..1074
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          1019..1023
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1044..1048
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1058..1063
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1067..1070
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1097..1164
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          1099..1103
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1111..1115
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          1136..1140
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          1150..1155
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          1159..1162
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          1178..1265
                     /region_name="Ig_Semaphorin_C"
                     /note="Immunoglobulin (Ig)-like domain at the C-terminus
                     of semaphorins; cd04979"
                     /db_xref="CDD:409368"
     Region          1178..1184
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409368"
     Region          1188..1196
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409368"
     Site            order(1190,1233)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:409368"
     Region          1202..1208
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409368"
     Region          1210..1213
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409368"
     Region          1218..1222
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409368"
     Region          1228..1235
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409368"
     Region          1241..1250
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409368"
     Region          1252..1265
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409368"
     Region          1269..>1315
                     /region_name="Ig_3"
                     /note="Immunoglobulin domain; pfam13927"
                     /db_xref="CDD:433584"
     Region          1285..1289
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          1297..1301
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     CDS             1..1401
                     /gene="OBSL1"
                     /coded_by="XM_047443799.1:308..4513"
                     /db_xref="GeneID:23363"
                     /db_xref="HGNC:HGNC:29092"
                     /db_xref="MIM:610991"
ORIGIN      
        1 mkassgdqgs ppcflrfprp vrvvsgaeae lkcvvlgepp pvvvwekggq qlaaserlsf
       61 padgaehgll ltaalptdag vyvcrarnaa geayaaaavt vleppasdpe lqpaerplps
      121 pgsgegapvf ltgprsqwvl rgaevvltcr agglpeptly wekdgmalde vwdsshfalq
      181 pgraedgpga slalrilaar lpdsgvyvch arnahghaqa gallqvhqpp esppadpdea
      241 papvveplkc apktfwvneg khakfrcyvm gkpepeiewh wegrpllpdr rrlmyrdrdg
      301 gfvlkvlycq akdrglyvca arnsagqtls avqlhvkepr lrftrplqdv egrehgiavl
      361 eckvpnsrip tawfredqrl lpcrkyeqie egtvrrliih rlkadddgiy lcemrgrvrt
      421 vanvtvkgpi lkrlprkldv legenavllv etleagvegr wsrdgeelpv icqsssghmh
      481 alvlpgvtre dagevtfslg nsrtttllrv kcvkhsppgp pilaemfkgh kntvlltwkp
      541 pepapetpfi yrlerqevgs edwiqcfsie kagavevpgd cvpsegdyrf rictvsghgr
      601 sphvvfhgsa hlvptarlva gledvqvydg edavfsldls tiiqgtwfln geelksnepe
      661 gqvepgalry rieqkglqhr lilhavkhqd sgalvgfscp gvqdsaalti qespvhilsp
      721 qdrvsltftt servvltcel srvdfpatwy kdgqkveese llvvkmdgrk hrlilpeakv
      781 qdsgefecrt egvsaffgvt vqdppvhivd prehvfvhai tsecvmlace vdredapvrw
      841 ykdgqevees dfvvlenegp hrrlvlpatq psdggefqcv agdecayftv titdvsswiv
      901 ypsgkvyvaa vrlervvltc elcrpwaevr wtkdgeevve spalllqked tvrrlvlpav
      961 qledsgeylc eiddesasft vtvteppvri iyprdevtli avtlecvvlm celsredapv
     1021 rwykdgleve esealvlerd gprcrlvlpa aqpedggefv cdagddsaff tvtvtapper
     1081 ivhpaarsld lhfgapgrve lrcevapags qvrwykdgle veasdalqlg aegptrtltl
     1141 phaqpedage yvcetrheai tfnvilaepp vqflalettp splcvapgep vvlscelsra
     1201 gapvvwshng rpvqegegle lhaegprrvl ciqaagpaha glytcqsgaa pgapslsftv
     1261 qvaepllvkl vseltpltvh egddatfrce vsppdadvtw lrngavvtpg pqrqsccsyg
     1321 gcrmcgqrka rmcvskwrqa ewvqrgpcag cevgspcptt lacpwprmgt stasssmvsy
     1381 wptraptaar attiapwpgs a
//
LOCUS       XP_047300515             466 aa            linear   PRI 20-MAR-2023
DEFINITION  nuclear receptor subfamily 4 group A member 2 isoform X7 [Homo
            sapiens].
ACCESSION   XP_047300515
VERSION     XP_047300515.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444559.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..466
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..466
                     /product="nuclear receptor subfamily 4 group A member 2
                     isoform X7"
                     /calculated_mol_wt=51641
     Region          272..346
                     /region_name="NR_DBD_NGFI-B"
                     /note="DNA-binding domain of the orphan nuclear receptor,
                     nerve growth factor-induced-B; cd06969"
                     /db_xref="CDD:143527"
     Site            order(274,277,291,294,310,316,326,329)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143527"
     Site            order(283..286,292..293,295,297,299..300,323..324,327,330,
                     343..345)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143527"
     Region          372..>465
                     /region_name="NR_LBD"
                     /note="The ligand binding domain of nuclear receptors, a
                     family of ligand-activated transcription regulators;
                     cl11397"
                     /db_xref="CDD:448242"
     Site            order(417..418,421,424..425,454..455,458..459,462,465)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:132726"
     Site            order(426,429,433,438,443..444,446..447,450..451)
                     /site_type="active"
                     /note="coregulator recognition site [active]"
                     /db_xref="CDD:132726"
     CDS             1..466
                     /gene="NR4A2"
                     /gene_synonym="HZF-3; IDLDP; NOT; NURR1; RNR1; TINUR"
                     /coded_by="XM_047444559.1:212..1612"
                     /db_xref="GeneID:4929"
                     /db_xref="HGNC:HGNC:7981"
                     /db_xref="MIM:601828"
ORIGIN      
        1 mnedrrgell tmpcvqaqyg sspqgaspas qsysyhssge yssdfltpef vkfsmdltnt
       61 eitattslps fstfmdnyst gydvkppcly qmplsgqqss ikvediqmhn yqqhshlppq
      121 seemmphsgs vyykpssppt pttpgfqvqh spmwddpgsl hnfhqnyvat thmieqrktp
      181 vsrlslfsfk qsppgtpvss cqmrfdgplh vpmnpepags hhvvdgqtfa vpnpirkpas
      241 mgfpglqigh asqlldtqvp sppsrgspsn eglcavcgdn aacqhygvrt cegckgffkr
      301 tvqknakyvc lankncpvdk rrrnrcqycr fqkclavgmv kevvrtdslk grrgrlpskp
      361 kspqepspps ppvslisalv rahvdsnpam tsldysrfqa npdyqmsgdd tqhiqqfydl
      421 ltgsmeiirg waekipgfad lpkadqdllf esaflelfvl rlayri
//
LOCUS       XP_024308702            1670 aa            linear   PRI 20-MAR-2023
DEFINITION  intersectin-2 isoform X2 [Homo sapiens].
ACCESSION   XP_024308702
VERSION     XP_024308702.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024452934.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1670
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..1670
                     /product="intersectin-2 isoform X2"
                     /calculated_mol_wt=190366
     Region          15..107
                     /region_name="EH"
                     /note="Eps15 homology domain; smart00027"
                     /db_xref="CDD:197477"
     Region          91..>184
                     /region_name="KLF3_N"
                     /note="N-terminal domain of Kruppel-like factor 3;
                     cd21577"
                     /db_xref="CDD:410554"
     Region          237..316
                     /region_name="EH"
                     /note="Eps15 homology domain; smart00027"
                     /db_xref="CDD:197477"
     Region          377..>727
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          732..788
                     /region_name="SH3_Intersectin2_1"
                     /note="First Src homology 3 domain (or SH3A) of
                     Intersectin-2; cd11988"
                     /db_xref="CDD:212921"
     Site            order(739,741,744,748,768..769,782,784..785)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212921"
     Region          875..926
                     /region_name="SH3_Intersectin2_2"
                     /note="Second Src homology 3 domain (or SH3B) of
                     Intersectin-2; cd11990"
                     /db_xref="CDD:212923"
     Site            order(880,882,885,889,906..907,920,922..923)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212923"
     Region          958..1009
                     /region_name="SH3_Intersectin2_3"
                     /note="Third Src homology 3 domain (or SH3C) of
                     Intersectin-2; cd11992"
                     /db_xref="CDD:212925"
     Site            order(963,965,968,972,989..990,1003,1005..1006)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212925"
     Region          1030..1088
                     /region_name="SH3_Intersectin2_4"
                     /note="Fourth Src homology 3 domain (or SH3D) of
                     Intersectin-2; cd11994"
                     /db_xref="CDD:212927"
     Site            order(1035,1037,1040,1044,1062..1063,1081,1083..1084)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212927"
     Region          1103..1156
                     /region_name="SH3_Intersectin2_5"
                     /note="Fifth Src homology 3 domain (or SH3E) of
                     Intersectin-2; cd11996"
                     /db_xref="CDD:212929"
     Site            order(1109,1111,1114,1118,1136..1137,1150,1152..1153)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212929"
     Region          1187..1367
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; smart00325"
                     /db_xref="CDD:214619"
     Site            order(1189,1193,1289,1317..1318,1321..1322,1324..1325,
                     1328..1329,1332..1333,1336,1362,1366)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          1385..1528
                     /region_name="PH_13"
                     /note="Pleckstrin homology domain; pfam16652"
                     /db_xref="CDD:435489"
     Region          1528..1662
                     /region_name="C2_Intersectin"
                     /note="C2 domain present in Intersectin; cd08375"
                     /db_xref="CDD:176021"
     Site            order(1564,1611,1613,1619)
                     /site_type="other"
                     /note="putative Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176021"
     CDS             1..1670
                     /gene="ITSN2"
                     /gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
                     /coded_by="XM_024452934.2:501..5513"
                     /db_xref="GeneID:50618"
                     /db_xref="HGNC:HGNC:6184"
                     /db_xref="MIM:604464"
ORIGIN      
        1 mmaqfptamn ggpnmwaits eertkhdrqf dnlkpsggyi tgdqarnffl qsglpapvla
       61 eiwalsdlnk dgkmdqqefs iamkliklkl qgqqlpvvlp pimkqppmfs plisarfgmg
      121 smpnlsipqp lppaapitsl ssatsgtnlp plmmptplvp svstsslpng tasliqplpi
      181 pyssstlphg ssyslmmggf ggasiqkaqs lidlgsssst sstaslsgns pktgtsewav
      241 pqptrlkyrq kfntldksms gylsgfqarn allqsnlsqt qlatiwtlad vdgdgqlkae
      301 efilamhltd makagqplpl tlppelvpps frggkqidsi ngtlpsyqkm qeeepqkklp
      361 vtfedkrkan yergnmelek rrqalmeqqq reaerkaqke keewerkqre lqeqewkkql
      421 elekrlekqr elerqreeer rkdierreaa kqelerqrrl ewerirrqel lnqknreqee
      481 ivrlnskkkn lhlelealng khqqisgrlq dvrlkkqtqk televldkqc dleimeikql
      541 qqelqeyqnk liylvpekql lneriknmqf sntpdsgvsl lhkkslekee lcqrlkeqld
      601 aleketaskl semdsfnnql kelretyntq qlaleqlyki krdklkeier krlelmqkkk
      661 ledeaarkak qgkenlwken lrkeeeekqk rlqeektqek iqeeerkaee kqrkdkdtlk
      721 aeekkretas vlvnyralyp fearnhdems fnsgdiiqvd ektvgepgwl ygsfqgnfgw
      781 fpcnyvekmp ssenekavsp kkallpptvs lsatstssep lssnqpasvt dyqnvsfsnl
      841 tvntswqkks aftrtvspgs vspihgqgqv venlkaqalc swtakkdnhl nfskhdiitv
      901 leqqenwwfg evhggrgwfp ksyvkiipgs evkreepeal yaavnkkpts aaysvgeeyi
      961 alypyssvep gdltftegee ilvtqkdgew wtgsigdrsg ifpsnyvkpk dqesfgsask
     1021 sgasnkkpei aqvtsayvas gseqlslapg qlililkknt sgwwqgelqa rgkkrqkgwf
     1081 pashvkllgp sseratpafh pvcqviamyd yaannedels fskgqlinvm nkddpdwwqg
     1141 eingvtglfp snyvkmttds dpsqqwcadl qtldtmqpie rkrqgyihel iqteerymad
     1201 lqlvvevfqk rmaesgflte gemalifvnw kelimsntkl lkalrvrkkt ggekmpvqmi
     1261 gdilaaelsh mqayirfcsc qlngaallqq ktdedtdfke flkklasdpr ckgmplssfl
     1321 lkpmqritry pllirsilen tpeshadhss lklaleraee lcsqvnegvr ekensdrlew
     1381 iqahvqcegl aeqlifnslt nclgprkllh sgklyktksn kelhgflfnd fllltymvkq
     1441 favssgsekl fssksnaqfk myktpiflne vlvklptdps sdepvfhish idrvytlrtd
     1501 ninertawvq kikaaseqyi dtekkkreka yqarsqktsg igrlmvhvie atelkackpn
     1561 gksnpyceis mgsqsyttrt iqdtlnpkwn fncqffikdl yqdvlcltlf drdqfspddf
     1621 lgrteipvak irteqeskgp mtrrlllhev ptgevwvrfd lqlfeqktll
//
LOCUS       XP_047300820             624 aa            linear   PRI 20-MAR-2023
DEFINITION  ankyrin repeat and zinc finger domain-containing protein 1 isoform
            X3 [Homo sapiens].
ACCESSION   XP_047300820
VERSION     XP_047300820.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047444864.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..624
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..624
                     /product="ankyrin repeat and zinc finger domain-containing
                     protein 1 isoform X3"
                     /calculated_mol_wt=69153
     Region          69..103
                     /region_name="ZnF_U1"
                     /note="U1-like zinc finger; smart00451"
                     /db_xref="CDD:197732"
     Region          74..96
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Region          207..351
                     /region_name="bVLRF1"
                     /note="bacteroidetes VLRF1 release factor; pfam18826"
                     /db_xref="CDD:436767"
     Region          <495..558
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl39094"
                     /db_xref="CDD:453966"
     Region          495..532
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          534..558
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     CDS             1..624
                     /gene="ANKZF1"
                     /gene_synonym="Vms1; ZNF744"
                     /coded_by="XM_047444864.1:126..2000"
                     /db_xref="GeneID:55139"
                     /db_xref="HGNC:HGNC:25527"
                     /db_xref="MIM:617541"
ORIGIN      
        1 mspapdaapa pasislfdls adapvfqgls lvshapgeal araprtscsg sgeresperk
       61 llqgpmdise klfcstcdqt fqnhqeqreh ykldwhrfnl kqrlkdkpll saldfekqss
      121 tgdlssisgs edsdsaseed lqtldrerat feklsrppgf yphrvlfqna qgqflyayrc
      181 vlgphqdppe eaelllqnlq srgprdcvvl maaaghfaga ifqgrevvth ktfhrytvra
      241 krgtaqglrd arggpshsag anlrryneat lykdvrdlla gpswakalee agtillrapr
      301 sgrslffggk gaplqrgdpr lwdiplatrr ptfqelqrvl hklttlhvye edpreavrlh
      361 spqthwktvr eerkkpteee irkicrdeke algqneespk qgsgsegedg fqvelelvel
      421 tvgtldlces evlpkrrrrk rnkkeksrdq eagahrtllq qtqeeepstq ssqavaaplg
      481 plldeakapg qpelwnalla acragdvgvl klqlapspad prvlsllsap lgsggftllh
      541 aaaaagrgsv vrllleagtl gpghlillrl tnqhvmsseg swrriqmpti ttrlrssgig
      601 rtsrvgrhhr swldpfyflq fyqr
//
LOCUS       XP_047301751             236 aa            linear   PRI 20-MAR-2023
DEFINITION  voltage-dependent L-type calcium channel subunit beta-4 isoform X8
            [Homo sapiens].
ACCESSION   XP_047301751
VERSION     XP_047301751.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047445795.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..236
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     Protein         1..236
                     /product="voltage-dependent L-type calcium channel subunit
                     beta-4 isoform X8"
                     /calculated_mol_wt=25442
     Region          50..91
                     /region_name="VGCC_beta4Aa_N"
                     /note="Voltage gated calcium channel subunit beta domain
                     4Aa N terminal; pfam12052"
                     /db_xref="CDD:432290"
     Region          91..158
                     /region_name="SH3_CACNB4"
                     /note="Src Homology 3 domain of Voltage-dependent L-type
                     calcium channel subunit beta4; cd12043"
                     /db_xref="CDD:212976"
     Site            order(101,103,106,117,135..136,152,154..155)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212976"
     CDS             1..236
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /coded_by="XM_047445795.1:34..744"
                     /db_xref="GeneID:785"
                     /db_xref="HGNC:HGNC:1404"
                     /db_xref="MIM:601949"
ORIGIN      
        1 mssssyakng tadgphspts qvargtttrr srlkrsdgst tstsfilrqg sadsytsrps
       61 dsdvsleedr eairqereqq aaiqleraks kpvafavktn vsycgalded vpvpstaisf
      121 dakdflhike kynndwwigr lvkegceigf ipsplrleni riqqeqkrgr fhggkssgns
      181 ssslgemvsg tfratptstd gahsslrcct vnasggvsga vterlrgnrh daespl
//
LOCUS       XP_011526887             613 aa            linear   PRI 20-MAR-2023
DEFINITION  RIPOR family member 3 isoform X6 [Homo sapiens].
ACCESSION   XP_011526887
VERSION     XP_011526887.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_011528585.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..613
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..613
                     /product="RIPOR family member 3 isoform X6"
                     /calculated_mol_wt=67330
     Region          <1..30
                     /region_name="PL48"
                     /note="Filopodia upregulated, FAM65; pfam15903"
                     /db_xref="CDD:435006"
     CDS             1..613
                     /gene="RIPOR3"
                     /gene_synonym="C20orf175; C20orf176; FAM65C"
                     /coded_by="XM_011528585.3:761..2602"
                     /db_xref="GeneID:140876"
                     /db_xref="HGNC:HGNC:16168"
ORIGIN      
        1 mgsrkgslyn wtppstpsfr eryylsvlqq ptqqalllgg pratsilsyl sdsdlrgpsl
       61 rsqsqelpem dsfssedprd tetstsasts dvgflpltfg phasieeear edplppgllp
      121 emahlsggpf aeqpgwrnlg gespslpqgs lfhsgtasss qngheegatg dredgpgval
      181 egplqevlel lrptdstqpq lreleyqvlg frdrlkpcra rqehtsaesl mecilesfaf
      241 lnadfaldel slfggsqglr kdrplpppss lkassrelta gapeldvllm vhlqvckall
      301 qklaspnlsr lvqeclleev aqqkhvletl svldfekvgk atsieeiipq asrtkgclkl
      361 wrgctgpgrv lscpattlln qlkktfqhrv rgkypgqlei acrrlleqvv scggllpgag
      421 lpeeqiitwf qfhsylqrqs vsdlekhftq ltkevtliee lhcagqakvv rklqgkrlgq
      481 lqplpqtlra wallqldgtp rvcraasarl agavrnrsfr ekallfytna laendarlqq
      541 aaclalkhlk giesidqtas lcqsdleavr aaarettlsf gekgrlafek mdklcseqre
      601 vfcqeadvei tif
//
LOCUS       XP_047295947             731 aa            linear   PRI 20-MAR-2023
DEFINITION  band 4.1-like protein 1 isoform X24 [Homo sapiens].
ACCESSION   XP_047295947
VERSION     XP_047295947.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047439991.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..731
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..731
                     /product="band 4.1-like protein 1 isoform X24"
                     /calculated_mol_wt=81745
     Region          99..288
                     /region_name="B41"
                     /note="Band 4.1 homologues; smart00295"
                     /db_xref="CDD:214604"
     Region          283..376
                     /region_name="FERM_C_4_1_family"
                     /note="FERM domain C-lobe of Protein 4.1 family; cd13184"
                     /db_xref="CDD:270005"
     Site            order(292,309,311,317)
                     /site_type="other"
                     /note="putative phosphoinositide binding site [chemical
                     binding]"
                     /db_xref="CDD:270005"
     Site            order(321,326..329,364,368,371..372)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Site            364..375
                     /site_type="other"
                     /note="putative actin binding site 2 [polypeptide
                     binding]"
                     /db_xref="CDD:270005"
     Region          385..428
                     /region_name="FA"
                     /note="FERM adjacent (FA); pfam08736"
                     /db_xref="CDD:430180"
     Region          481..>512
                     /region_name="SAB"
                     /note="SAB domain; pfam04382"
                     /db_xref="CDD:427911"
     Region          <638..717
                     /region_name="4_1_CTD"
                     /note="4.1 protein C-terminal domain (CTD); pfam05902"
                     /db_xref="CDD:428665"
     CDS             1..731
                     /gene="EPB41L1"
                     /gene_synonym="4.1N; MRD11"
                     /coded_by="XM_047439991.1:172..2367"
                     /db_xref="GeneID:2036"
                     /db_xref="HGNC:HGNC:3378"
                     /db_xref="MIM:602879"
ORIGIN      
        1 mttetgpdse vkkaqeeapq qpeaaaavtt pvtpaghghp eansnekhps qqdtrpaeqs
       61 ldmeekdyse adglserttp skaqkspqki akkyksaicr vtlldaseye cevekhgrgq
      121 vlfdlvcehl nllekdyfgl tfcdadsqkn wldpskeikk qirsspwnfa ftvkfyppdp
      181 aqlteditry ylclqlradi itgrlpcsfv thallgsyav qaelgdydae ehvgnyvsel
      241 rfapnqtrel eerimelhkt yrgmtpgeae ihflenakkl smygvdlhha kdsegidiml
      301 gvcanglliy rdrlrinrfa wpkilkisyk rsnfyikirp geyeqfesti gfklpnhrsa
      361 krlwkvcieh htffrlvspe pppkgflvmg skfrysgrtq aqtrqasali drpapffers
      421 sskrytmsrs ldgaefsrpa svsenhdagp dgdkrdedge sggqrseaee gevrtptkik
      481 elkfldkped vllkhqasin elkrtlkepn sklihrdrdw ererrlpssp aspspkgtpe
      541 kanepvktet mtvsslairk kiepeavlqt rvsamdntqv dgsasvgref iattpsitte
      601 tisttmensl ksgkgaaami pgpqtvatei rslspiigkd vltstygata etlststtth
      661 vtktvkggfs etriekriii tgdedvdqdq alalaikeak lqhpdmlvtk avvyretdps
      721 peerdkkpqe s
//
LOCUS       XP_047296332             677 aa            linear   PRI 20-MAR-2023
DEFINITION  GDNF-inducible zinc finger protein 1 isoform X2 [Homo sapiens].
ACCESSION   XP_047296332
VERSION     XP_047296332.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047440376.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000020.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..677
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
     Protein         1..677
                     /product="GDNF-inducible zinc finger protein 1 isoform X2"
                     /calculated_mol_wt=77050
     Region          6..133
                     /region_name="BTB_POZ_ZBTB23_GZF1"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in glial cell
                     line-derived neurotrophic factor-inducible zinc finger
                     protein 1 (GZF1); cd18211"
                     /db_xref="CDD:349520"
     Region          319..339
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          350..371
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          <405..593
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          409..429
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(414,416,418,420..421,424..425,428,442,444,448..449,
                     452..453,456,470,472,474,476..477,480..481,484)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          437..457
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          465..485
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          493..513
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          521..541
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          549..569
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          577..593
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..677
                     /gene="GZF1"
                     /gene_synonym="JLSM; ZBTB23; ZNF336"
                     /coded_by="XM_047440376.1:558..2591"
                     /db_xref="GeneID:64412"
                     /db_xref="HGNC:HGNC:15808"
                     /db_xref="MIM:613842"
ORIGIN      
        1 mesgavlles ksspfnllhe mhelrllghl cdvtvsveyq gvrkdfmahk avlaatskff
       61 kevflneksv dgtrtnvyln evqvadfasf lefvytakvq veedrvqrml evaeklkcld
      121 lsetcfqlkk qmlesvllel qnfsesqeve vssgsqvsaa paprasvatd gphpsgltds
      181 ldypgerasn gmssdlppkk skdkldkkke vvkppypkir rasgrlagrk vfveipkkky
      241 trrlreqqkt aegdvgdyrc pqdqspdrvg temeqvskne gcqagaelee lskkagpeee
      301 eeeeeedeeg ekkksnfkcs icekaflyek sflkhskhrh gvatevvyrc dtcgqtfanr
      361 cnlkshqrhv hsserhfpce lcgkkfkrkk dvkrhvlqvh egggerhrcg qcgkglsskt
      421 alrlhertht gdrpygctec garfsqpsal kthmrihtge kpfvcdecga rftqnhmliy
      481 hkrchtgerp fmcetcgksf askeylkhhn rihtgskpfk cevcfrtfaq rnslyqhikv
      541 htgerpyccd qcgkqftqln alqrhrriht gerpfmcnac grtftdkstl rrhtsmarpr
      601 tmtdtrlnsl tksmchpsfr inccllqkma isttwlqskt lylpcrrtvl ltqparqmtp
      661 wcprtpswpp psvslas
//
LOCUS       XP_005269424             743 aa            linear   PRI 20-MAR-2023
DEFINITION  DISP complex protein LRCH3 isoform X1 [Homo sapiens].
ACCESSION   XP_005269424
VERSION     XP_005269424.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005269367.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000003.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..743
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
     Protein         1..743
                     /product="DISP complex protein LRCH3 isoform X1"
                     /calculated_mol_wt=82513
     Region          61..83
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <77..>285
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:227223"
     Region          84..106
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          107..129
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          130..145
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          152..174
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          175..197
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          198..218
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          220..242
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          243..261
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          594..703
                     /region_name="CH_SF"
                     /note="calponin homology (CH) domain superfamily; cl00030"
                     /db_xref="CDD:444660"
     Site            order(602,657,659..660,663..664,666,680..684,691,693..694,
                     696..697,700..701)
                     /site_type="other"
                     /note="actin binding site [polypeptide binding]"
                     /db_xref="CDD:409031"
     CDS             1..743
                     /gene="LRCH3"
                     /coded_by="XM_005269367.4:54..2285"
                     /db_xref="GeneID:84859"
                     /db_xref="HGNC:HGNC:28637"
ORIGIN      
        1 maaaglvava aaaeysgtva sggnlpgvhc gpssgagpgf gpgswsrsld raleeaavtg
       61 vlslsgrklr efprgaanhd ltdttradls rnrlseipie achfvslenl nlyqnciryi
      121 peailnlqal tflnisrnql stlpvhlcnl plkvliasnn klvslpeeig hlrhlmeldv
      181 scneiqtips qignlealrd lnvrrnhlvh lpeelaelpl irldfscnki ttipvcyrnl
      241 rhlqtitldn nplqsppaqi cikgkvhifk ylniqackia pdlpdydrrp lgfgscheel
      301 yssrpygald sgfnsvdsgd krwsgneptd efsdlplrva eitkeqrlrr esqyqenrgs
      361 lvvtnggveh dldqidyids ctaeeeeaev rqpkgpdpds lssqfmayie qrrishegsp
      421 vkpvairefq ktedmrrylh qnrvpaepss llslsashnq lshtdlelhq rreqlvertr
      481 reaqlaalqy eeekirtkqi qrdavldfvk qkasqspqkq hplldgvdge cpfpsrrsqh
      541 tddsalcmsd drpnallssp atetghaspl ppsaapttds tdsitgqnsr qreeelelid
      601 qlrkhieyrl kvslpcdlga altdgvvlch lanhvrprsv psihvpspav pkltmakcrr
      661 nvenfleacr kigvpqdnlc spsdilqlnl svkrtvetll slgahseess fvclslqllg
      721 fvafyctvml tlcvlyywlf par
//
LOCUS       XP_005271942             852 aa            linear   PRI 20-MAR-2023
DEFINITION  protein Shroom1 isoform X1 [Homo sapiens].
ACCESSION   XP_005271942
VERSION     XP_005271942.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005271885.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000005.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..852
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     Protein         1..852
                     /product="protein Shroom1 isoform X1"
                     /calculated_mol_wt=90655
     Region          <70..569
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          <140..256
                     /region_name="ASD1"
                     /note="Apx/Shroom domain ASD1; pfam08688"
                     /db_xref="CDD:430156"
     Region          544..824
                     /region_name="ASD2"
                     /note="Apx/Shroom domain ASD2; pfam08687"
                     /db_xref="CDD:430155"
     CDS             1..852
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /coded_by="XM_005271885.5:1774..4332"
                     /db_xref="GeneID:134549"
                     /db_xref="HGNC:HGNC:24084"
                     /db_xref="MIM:611179"
ORIGIN      
        1 mealgpggdr aspasstssl dlwhlsmrad sayssfsaas ggpeprtqsp gtdllpyldw
       61 dyvrvvwggp gpappdaalc tsprprpava arsgpqptev pgtpgplnrq atpllyalaa
      121 eaeaaaqaae ppsppasraa yrqrlqgaqr rvlretsfqr kelrmslpar lrptvparpp
      181 athprsasls hpggegepar srapapgtag rgplanqqrk wcfsepgkld rvgrgggpar
      241 eclgeacsss glpgpeplef qhpalakfed hevgwlpetq pqgsmnldsg slklgdafrp
      301 asrsrsasge vlgswggsgg tipivqavpq gaetprplfq tklsrflpqk eaavmypael
      361 pqsspadseq rvsetcivpa wlpslpdevf leeaplvrmr sppdphasqg ppasvhasdq
      421 pygtglgqrt gqvtvpteyp lhecpgtaga ddcwqgvngs vgisrptsht ptgtandnip
      481 tidptglttn pptaaesdll kpvpadalgl sgndtpgpsh ntalargtgq pgsrptwpsq
      541 cleelvqela rldpslcdpl asqpspeppl glldglipla evraamrpac geageeaast
      601 fepgsyqfsf tqllpapree trlenpathp vldqpcgqgl papnnsiqgk kvelaarlqk
      661 mlqdlhteqe rlqgeaqawa rrqaaleaav rqacapqele rfsrfmadle rvlglllllg
      721 srlarvrral araasdsdpd eqasllqrlr llqrqeedak elkehvarre ravrevlvra
      781 lpveelrvyc allagkaavl aqqrnlderi rllqdqldai rddlghhaps psparppgtc
      841 ppvqppfpll lt
//
LOCUS       XP_047274037             605 aa            linear   PRI 20-MAR-2023
DEFINITION  heterogeneous nuclear ribonucleoprotein Q isoform X2 [Homo
            sapiens].
ACCESSION   XP_047274037
VERSION     XP_047274037.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418081.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..605
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..605
                     /product="heterogeneous nuclear ribonucleoprotein Q
                     isoform X2"
                     /calculated_mol_wt=67245
     Region          23..107
                     /region_name="NURR_hnRNPQ"
                     /note="NURR (N-terminal unit for RNA recognition) domain
                     found in heterogeneous nuclear ribonucleoprotein Q
                     (hnRNPQ) and similar proteins; cd21066"
                     /db_xref="CDD:410954"
     Region          103..592
                     /region_name="hnRNP-R-Q"
                     /note="heterogeneous nuclear ribonucleoprotein R, Q
                     family; TIGR01648"
                     /db_xref="CDD:273732"
     CDS             1..605
                     /gene="SYNCRIP"
                     /gene_synonym="GRY-RBP; GRYRBP; hnRNP-Q; HNRNPQ; HNRPQ1;
                     NSAP1; PP68"
                     /coded_by="XM_047418081.1:134..1951"
                     /db_xref="GeneID:10492"
                     /db_xref="HGNC:HGNC:16918"
                     /db_xref="MIM:616686"
ORIGIN      
        1 matehvngng teepmdttsa vihsenfqtl ldaglpqkva ekldeiyvag lvahsdlder
       61 aiealkefne dgalavlqqf kdsdlshvqn ksaflcgvmk tyrqrekqgt kvadsskgpd
      121 eakikaller tgytldvttg qrkyggpppd svysgqqpsv gteifvgkip rdlfedelvp
      181 lfekagpiwd lrlmmdpltg lnrgyafvtf ctkeaaqeav klynnheirs gkhigvcisv
      241 annrlfvgsi pksktkeqil eefskvtegl tdvilyhqpd dkkknrgfcf leyedhktaa
      301 qarrrlmsgk vkvwgnvgtv ewadpiedpd pevmakvkvl fvrnlantvt eeilekafsq
      361 fgklervkkl kdyafihfde rdgavkamee mngkdlegen ieivfakppd qkrkerkaqr
      421 qaaknqmydd yyyygpphmp pptrgrgrgg rggygyppdy ygyedyydyy gydyhnyrgg
      481 yedpyygyed fqvgargrgg rgargaapsr grgaapprgr agysqrggpg sargvrgarg
      541 gaqqqrgrgv rgarggrggn vggkrkadgy nqpdskrrqt nnqnwgsqpi aqqplqagkr
      601 grgrs
//
LOCUS       XP_005248930             414 aa            linear   PRI 20-MAR-2023
DEFINITION  dynein regulatory complex subunit 5 isoform X2 [Homo sapiens].
ACCESSION   XP_005248930
VERSION     XP_005248930.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_005248873.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..414
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..414
                     /product="dynein regulatory complex subunit 5 isoform X2"
                     /calculated_mol_wt=46414
     Region          179..402
                     /region_name="PPP1R42"
                     /note="protein phosphatase 1 regulatory subunit 42;
                     cl42388"
                     /db_xref="CDD:455733"
     Site            order(209..210,267,316,340,342,365,396)
                     /site_type="other"
                     /note="Substrate binding site [chemical binding]"
                     /db_xref="CDD:238064"
     CDS             1..414
                     /gene="TCTE1"
                     /gene_synonym="D6S46; DRC5; FAP155"
                     /coded_by="XM_005248873.3:642..1886"
                     /db_xref="GeneID:202500"
                     /db_xref="HGNC:HGNC:11693"
                     /db_xref="MIM:186975"
ORIGIN      
        1 mqdtvttsal ldpshssvst qdnsstgght sstspqlskp sitpvpaksr nphpranirr
       61 mrriiaedpe wslaivpllt elciqhiirn fqknpilkqm lpehqqkvln hlspdlplav
      121 tanlidseny wlrccmhrwp vchvahhggs wkrmfferhl enllkhfipg ttdpavildl
      181 lplcrnyvrr vhvdqflppv qlpaqlrpgd qsdsgsegem eeptvdhyql gdlvaglshl
      241 eeldlvydvk dcgmnfewnl flftyrdcls laaaikacht lkifkltrsk vdddkariii
      301 rslldhpvle eldlsqnlig drgargaakl lshsrlrvln lannqdggkq llegmsdnkt
      361 llefdlrlsd vaqeseylig qalyanreaa rqralnpshf mstitangpe nsvg
//
LOCUS       XP_047274892             365 aa            linear   PRI 20-MAR-2023
DEFINITION  peroxisome proliferator-activated receptor delta isoform X2 [Homo
            sapiens].
ACCESSION   XP_047274892
VERSION     XP_047274892.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047418936.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..365
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..365
                     /product="peroxisome proliferator-activated receptor delta
                     isoform X2"
                     /calculated_mol_wt=40604
     Region          73..156
                     /region_name="NR_DBD_Ppar"
                     /note="DNA-binding domain of peroxisome
                     proliferator-activated receptors (PPAR) is composed of two
                     C4-type zinc fingers; cd06965"
                     /db_xref="CDD:143523"
     Site            order(74,77,91,94,110,115,125,128)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:143523"
     Site            order(82..86,92..93,95,97,99..100,103,122..123,126,129,
                     140,143..147,149)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143523"
     Site            order(120..121,123..124)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:143523"
     Region          173..>359
                     /region_name="NR_LBD"
                     /note="The ligand binding domain of nuclear receptors, a
                     family of ligand-activated transcription regulators;
                     cl11397"
                     /db_xref="CDD:448242"
     Site            order(249..250,253,256..257,286..287,290..291,294,297,331)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:132726"
     Site            order(258,261,265,270,275..276,278..279,282..283)
                     /site_type="active"
                     /note="coregulator recognition site [active]"
                     /db_xref="CDD:132726"
     CDS             1..365
                     /gene="PPARD"
                     /gene_synonym="FAAR; NR1C2; NUC1; NUCI; NUCII; PPARB"
                     /coded_by="XM_047418936.1:226..1323"
                     /db_xref="GeneID:5467"
                     /db_xref="HGNC:HGNC:9235"
                     /db_xref="MIM:600409"
ORIGIN      
        1 meqpqeeape vreeeekeev aeaegapeln ggpqhalpss sytdlsrsss ppslldqlqm
       61 gcdgascgsl nmecrvcgdk asgfhygvha cegckgffrr tirmkleyek cersckiqkk
      121 nrnkcqycrf qkclalgmsh nairfgrmpe aekrklvagl tanegsqynp qvadlkafsk
      181 hiynaylknf nmtkkkarsi ltgkashtap fvihdietlw qaekglvwkq lvnglppyke
      241 isvhvfyrcq cttvetvrel tefaksipsf sslflndqvt llkygvheai famlasivnk
      301 dgllvangsg fvtreflrsl rkpfsdiiep kfefavkfna lelddsdlal fiaaiilcga
      361 aaedg
//
LOCUS       XP_047275517             404 aa            linear   PRI 20-MAR-2023
DEFINITION  synaptotagmin-like protein 3 isoform X4 [Homo sapiens].
ACCESSION   XP_047275517
VERSION     XP_047275517.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419561.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 27% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..404
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..404
                     /product="synaptotagmin-like protein 3 isoform X4"
                     /calculated_mol_wt=44747
     Region          101..228
                     /region_name="C2A_SLP-3"
                     /note="C2 domain first repeat present in
                     Synaptotagmin-like protein 3; cd08392"
                     /db_xref="CDD:176038"
     Region          242..404
                     /region_name="C2B_SLP_1-2-3-4"
                     /note="C2 domain second repeat present in
                     Synaptotagmin-like proteins 1-4; cd04020"
                     /db_xref="CDD:175987"
     CDS             1..404
                     /gene="SYTL3"
                     /gene_synonym="SLP3"
                     /coded_by="XM_047419561.1:1196..2410"
                     /db_xref="GeneID:94120"
                     /db_xref="HGNC:HGNC:15587"
ORIGIN      
        1 mtsekhllat gprqcvgqte rrsqsdtavn vttrkvsapd ilkplnqedp kcstnpilkq
       61 qnlpsspaps tifsggfrhg slisidstct emgnfdnanv tgeiefaihy cfkthsleic
      121 ikacknlayg eekkkkcnpy vktyllpdrs sqgkrktgvq rntvdptfqe tlkyqvapaq
      181 lvtrqlqvsv whlgtlarrv flgeviipla twdfedsttq sfrwhplrak aekyedsvpq
      241 sngeltvrak lvlpsrprkl qeaqegtdqp slhgqlclvv lgaknlpvrp dgtlnsfvkg
      301 cltlpdqqkl rlkspvlrkq acpqwkhsfv fsgvtpaqlr qssleltvwd qalfgmndrl
      361 lggtrlgskg dtavggdacs lsklqwqkvl sspnlwtdmt lvlh
//
LOCUS       XP_047275530             205 aa            linear   PRI 20-MAR-2023
DEFINITION  autophagy protein 5 isoform X3 [Homo sapiens].
ACCESSION   XP_047275530
VERSION     XP_047275530.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047419574.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000006.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
     Protein         1..205
                     /product="autophagy protein 5 isoform X3"
                     /calculated_mol_wt=23910
     Region          36..200
                     /region_name="APG5"
                     /note="Autophagy protein Apg5; pfam04106"
                     /db_xref="CDD:427714"
     CDS             1..205
                     /gene="ATG5"
                     /gene_synonym="APG5; APG5-LIKE; APG5L; ASP; hAPG5; SCAR25"
                     /coded_by="XM_047419574.1:519..1136"
                     /db_xref="GeneID:9474"
                     /db_xref="HGNC:HGNC:589"
                     /db_xref="MIM:604261"
ORIGIN      
        1 mdiilfsfls fffffdiils fllgkclvve wlgqmsfpek dllhcpskda ieahfmscmk
       61 eadalkhksq vinemqkkdh kqlwmglqnd rfdqfwainr klmeypaeen gfryipfriy
      121 qttterpfiq klfrpvaadg qlhtlgdllk evcpsaidpe dgekknqvmi hgiepmletp
      181 lqwlsehlsy pdnflhisii pqptd
//
LOCUS       XP_047276026             533 aa            linear   PRI 20-MAR-2023
DEFINITION  late secretory pathway protein AVL9 homolog isoform X8 [Homo
            sapiens].
ACCESSION   XP_047276026
VERSION     XP_047276026.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047420070.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..533
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..533
                     /product="late secretory pathway protein AVL9 homolog
                     isoform X8"
                     /calculated_mol_wt=59330
     Region          16..524
                     /region_name="Avl9"
                     /note="Transport protein Avl9; pfam09794"
                     /db_xref="CDD:430832"
     CDS             1..533
                     /gene="AVL9"
                     /gene_synonym="KIAA0241"
                     /coded_by="XM_047420070.1:222..1823"
                     /db_xref="GeneID:23080"
                     /db_xref="HGNC:HGNC:28994"
                     /db_xref="MIM:612927"
ORIGIN      
        1 mekarrggdg vprgpvlhiv vvgfhhkkgc qvefsyppli pgdghdshtl peewkylpfl
       61 alpdgahnyq edtvffhlpp rngngatvfg iscyrqieak alkvrqadit retvqksvcv
      121 lsklplygll qaklqlitha yfeekdfsqi silkelyehm nsslggasle gsqvylglsp
      181 rdlvlhfrhk vlilfklill ekkvlfyisp vnklvgalmt vlslfpgmie hglsdcsqyr
      241 prksmsedgg lqesnpcadd fvsastadvs htnlgtirkv magnhgedaa mkteeplfqv
      301 edsskgqepn dtnqylkpps rpspdssesd wetldpsvle dpnlkereql gsdqtnlfpk
      361 dsvpseslpi tvqpqantgq vvlipglisg leedqygmpl aiftkgylcl pymalqqhhl
      421 lsdvtvrgfv agatnilfrq qkhlsdaive vrlcveeali qihdpelrkl lnpttadlrf
      481 adylvrhvte nrddvfldgt gweggdewir aqfavyihal laatlqlvrk mkf
//
LOCUS       XP_006716075            1215 aa            linear   PRI 20-MAR-2023
DEFINITION  neuronal cell adhesion molecule isoform X14 [Homo sapiens].
ACCESSION   XP_006716075
VERSION     XP_006716075.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006716012.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1215
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..1215
                     /product="neuronal cell adhesion molecule isoform X14"
                     /calculated_mol_wt=134169
     Region          46..140
                     /region_name="IgI_NrCAM"
                     /note="Immunoglobulin (Ig)-like domain of NrCAM (Ng
                     (neuronglia) CAM-related cell adhesion molecule); member
                     of the I-set of Ig superfamily (IgSF) domains; cd05874"
                     /db_xref="CDD:409458"
     Region          46..50
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409458"
     Region          55..59
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409458"
     Region          64..71
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409458"
     Region          77..82
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409458"
     Region          85..87
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409458"
     Region          94..97
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409458"
     Region          102..106
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409458"
     Region          119..127
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409458"
     Region          130..140
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409458"
     Region          149..238
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          163..167
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          177..181
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          200..204
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          215..220
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          231..234
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          277..358
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          288..292
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          301..305
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          323..327
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          337..342
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          350..353
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          362..450
                     /region_name="Ig4_NrCAM"
                     /note="Fourth immunoglobulin (Ig)-like domain of NrCAM
                     (NgCAM-related cell adhesion molecule); cd05868"
                     /db_xref="CDD:409454"
     Region          378..382
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409454"
     Region          391..395
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409454"
     Region          415..419
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409454"
     Region          429..434
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409454"
     Region          442..445
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409454"
     Region          459..542
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          472..476
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          485..489
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          508..512
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          522..527
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          535..538
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          548..633
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:448366"
     Region          563..567
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          578..582
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          613..618
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          626..629
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          647..737
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(647,713,728)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(729..730,732..733)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          750..832
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Region          848..940
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(936..937,939..940)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Site            order(952,1020,1035)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Region          953..1037
                     /region_name="fn3"
                     /note="Fibronectin type III domain; pfam00041"
                     /db_xref="CDD:394996"
     Site            order(1036..1037,1039..1040)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          1098..1191
                     /region_name="Bravo_FIGEY"
                     /note="Bravo-like intracellular region; pfam13882"
                     /db_xref="CDD:433552"
     CDS             1..1215
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /coded_by="XM_006716012.3:526..4173"
                     /db_xref="GeneID:4897"
                     /db_xref="HGNC:HGNC:7994"
                     /db_xref="MIM:601581"
ORIGIN      
        1 mqlkimpkkk rlsagrvpli lflcqmisal evpldpklle dlvqpptitq qspkdyiidp
       61 reniviqcea kgkpppsfsw trngthfdid kdplvtmkpg tgtliinims egkaetyegv
      121 yqctarnerg aavsnnivvr psrsplwtke klepitlqsg qslvlpcrpp iglpppiifw
      181 mdnsfqrlpq servsqglng dlyfsnvlpe dtredyicya rfnhtqtiqq kqpisvkvis
      241 vdelndtiaa nlsdtefyga kssrerpptf ltpegnasnk eelrgnvlsl eciaeglptp
      301 iiywakedgm lpknrtvykn fektlqiihv seadsgnyqc iaknalgaih htisvrvkaa
      361 pywitapqnl vlspgedgtl icrangnpkp riswltngvp ieiapddpsr kidgdtiifs
      421 nvqerssavy qcnasneygy llanafvnvl aeppriltpa ntlyqvianr palldcaffg
      481 splptiewfk gakgsalhed iyvlhengtl eipvaqkdst gtytcvarnk lgmaknevhl
      541 eikdptwivk qpeyavvqrg smvsfeckvk hdhtlsltvl wlkdnrelps derftvdkdh
      601 lvvadvsddd sgtytcvant tldsvsasav lsvvaptptp apvydvpnpp fdleltdqld
      661 ksvqlswtpg ddnnspitkf iieyedamhk pglwhhqtev sgtqttaqlk lspyvnysfr
      721 vmavnsigks lpseaseqyl tkasepdknp taveglgsep dnlvitwkpl ngfesngpgl
      781 qykvswrqkd gddewtsvvv anvskyivsg tptfvpylik vqalndmgfa pepavvmghs
      841 gedlpmvapg nvrvnvvnst laevhwdpvp lksirghlqg yriyywktqs sskrnrrhie
      901 kkiltfqgsk thgmlpglep fshytlnvrv vngkgegpas pdrvfntpeg vpsapsslki
      961 vnptldsltl ewdppshpng ilteytlkyq pinsthelgp lvdlkipank trwtlknlnf
     1021 strykfyfya qtsagsgsqi teeavttvde agilppdvga gkamasrqvd iatqgwfigl
     1081 mcavallili llivcfirrn kggkypvkek edahadpeiq pmkeddgtfg eyrslesdae
     1141 dhkplkkgsr tpsdrtvkke dsddslvdyg egvngqfned gsfigqysgk kekepaegne
     1201 sseapspvna mnsfv
//
LOCUS       XP_006716099             650 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger CW-type PWWP domain protein 1 isoform X1 [Homo
            sapiens].
ACCESSION   XP_006716099
VERSION     XP_006716099.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_006716036.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000007.14) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..650
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
     Protein         1..650
                     /product="zinc finger CW-type PWWP domain protein 1
                     isoform X1"
                     /calculated_mol_wt=72053
     Region          256..303
                     /region_name="zf-CW"
                     /note="CW-type Zinc Finger; pfam07496"
                     /db_xref="CDD:429491"
     Region          312..427
                     /region_name="PWWP_ZCWPW1"
                     /note="PWWP domain found in zinc finger CW-type PWWP
                     domain protein 1 (ZCWPW1) and similar proteins; cd20145"
                     /db_xref="CDD:438973"
     Site            order(330,333,364)
                     /site_type="other"
                     /note="putative methyl-histone binding site [polypeptide
                     binding]"
                     /db_xref="CDD:438973"
     Site            331..334
                     /site_type="other"
                     /note="PWWP sequence motif"
                     /db_xref="CDD:438973"
     CDS             1..650
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /coded_by="XM_006716036.4:290..2242"
                     /db_xref="GeneID:55063"
                     /db_xref="HGNC:HGNC:23486"
                     /db_xref="MIM:618900"
ORIGIN      
        1 mmttlqnkee cgkgpkrifa ppaqksysll pcspnspkee tpgisspete arislpkasl
       61 kkkeekatmk nvpsreqekk rkaqinkqae kkekeksslt naefeeivqi vlqkslqecl
      121 gmgsgldfae tscaqpvvst qsdkepgita satdtdnang eevphtqeis vswegeaape
      181 irtsklgqpd papskkksnr ltlskrkkea qdekvektqg ghehrqedrl kktvqdhsqi
      241 rdqqkgeisg fgqclvwvqc sfpncgkwrr lcgnidpsvl pdnwscdqnt advqynrcdi
      301 peetwtgles dvayasyipg siiwakqygy pwwpgmiesd pdlgeyflft shldslpsky
      361 hvtffgetvs rawipvnmlk nfqelslels vmkkrrndcs qklgvalmma qeaeqisiqe
      421 rvnlfgfwsr fngsnsnger kdlqlsglns pgsclekkek eeelekeege ktdpilpirk
      481 rvkiqtqktk prglggdagt adgrgrtlqr kimkrslgrk stappaprmg rkegqgnsds
      541 dqpgpkkkfk apqskalaas fsegkevrtv pknlglsack gacpssakee prhrepltqe
      601 agsvpledea ssdldleqlm edvgrelgqs gelqhsnsdg edfpvalfgk
//
LOCUS       XP_016868671             277 aa            linear   PRI 20-MAR-2023
DEFINITION  serine protease 55 isoform X2 [Homo sapiens].
ACCESSION   XP_016868671
VERSION     XP_016868671.2
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017013182.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            On Mar 26, 2018 this sequence version replaced XP_016868671.1.
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..277
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..277
                     /product="serine protease 55 isoform X2"
                     /calculated_mol_wt=30445
     Region          67..>247
                     /region_name="Tryp_SPc"
                     /note="Trypsin-like serine protease; smart00020"
                     /db_xref="CDD:214473"
     Site            68
                     /site_type="active"
                     /note="cleavage site [active]"
                     /db_xref="CDD:238113"
     CDS             1..277
                     /gene="PRSS55"
                     /gene_synonym="CT153; T-SP1; TSP1; UNQ9391"
                     /coded_by="XM_017013182.3:55..888"
                     /db_xref="GeneID:203074"
                     /db_xref="HGNC:HGNC:30824"
                     /db_xref="MIM:615144"
ORIGIN      
        1 mllfsvllll slvtgtqlgp rtplpeagva ilgrargahr pqpphppspv secgdrsife
       61 grtrysritg gmeaevgefp wqvsiqarse pfcggsilnk wwiltaahcl yseelfpeel
      121 svvlgtndlt spsmeikeva siilhkdfkr anmdndiall llaspikldd lkvpiclptq
      181 pgpatwrecw vagwgqtnaa dknsvktdlm kapmvimdwe ecskmfpklt knmlcagykn
      241 esydackspl kdhgmrhhls tedclqgcsc saplvre
//
LOCUS       XP_016868802             367 aa            linear   PRI 20-MAR-2023
DEFINITION  F-box only protein 25 isoform X1 [Homo sapiens].
ACCESSION   XP_016868802
VERSION     XP_016868802.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017013313.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000008.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..367
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
     Protein         1..367
                     /product="F-box only protein 25 isoform X1"
                     /calculated_mol_wt=43182
     Region          227..271
                     /region_name="F-box_FBXO25"
                     /note="F-box domain found in F-box only protein 25
                     (FBXO25) and similar proteins; cd22099"
                     /db_xref="CDD:438871"
     Site            order(231,235,238..239,242..243,248,250..251,255..257,259)
                     /site_type="other"
                     /note="putative Skp1 binding site [polypeptide binding]"
                     /db_xref="CDD:438871"
     CDS             1..367
                     /gene="FBXO25"
                     /gene_synonym="FBX25"
                     /coded_by="XM_017013313.3:91..1194"
                     /db_xref="GeneID:26260"
                     /db_xref="HGNC:HGNC:13596"
                     /db_xref="MIM:609098"
ORIGIN      
        1 mpflgqdwrs pgwswikted gwkrcescsq klerennrcn ishsiilnse dgeifnneeh
       61 eyaskkrkkd hfrndtntqs fyrekwiyvh kestkerhgy ctlgeafnrl dfssaiqdir
      121 rfnyvvkllq liaksqltsl sgvaqknyfn ildkivqkvl ddhhnprlik dllqdlsstl
      181 cilirgvgks vlvgniniwi crletilawq qqlqdlqmtk qvnngltlsd lplhmlnnil
      241 yrfsdgwdii tlgqvtptly mlsedrqlwk klcqyhfaek qfcrhlilse kghiewklmy
      301 falqkhypak eqygdtlhfc rhcsilfwkd yhlallfkds ghpctaadpd scftpvspqh
      361 fidlfkf
//
LOCUS       XP_047278783             557 aa            linear   PRI 20-MAR-2023
DEFINITION  ras and EF-hand domain-containing protein isoform X4 [Homo
            sapiens].
ACCESSION   XP_047278783
VERSION     XP_047278783.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047422827.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..557
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..557
                     /product="ras and EF-hand domain-containing protein
                     isoform X4"
                     /calculated_mol_wt=62376
     Region          1..>186
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase [Cell cycle control,
                     cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:224117"
     Region          359..523
                     /region_name="Rab"
                     /note="Ras-related in brain (Rab) family of small
                     guanosine triphosphatases (GTPases); cd00154"
                     /db_xref="CDD:206640"
     Site            359..360
                     /site_type="other"
                     /note="Rab subfamily motif 1 (RabSF1)"
                     /db_xref="CDD:206640"
     Site            365..372
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206640"
     Site            order(367..373,383,390,416,471..472,474,507..509)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206640"
     Site            373..383
                     /site_type="other"
                     /note="Rab subfamily motif 2 (RabSF2)"
                     /db_xref="CDD:206640"
     Site            order(383,390..396)
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206640"
     Site            390
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206640"
     Site            order(391,393..395,410,412,419..420,423,427,432)
                     /site_type="active"
                     /note="effector interaction site [active]"
                     /db_xref="CDD:206640"
     Site            order(391..392,394,412..413,420,424..426)
                     /site_type="active"
                     /note="GDI interaction site [active]"
                     /db_xref="CDD:206640"
     Site            391..395
                     /site_type="other"
                     /note="Rab family motif 1 (RabF1)"
                     /db_xref="CDD:206640"
     Site            order(392..399,406,408)
                     /site_type="other"
                     /note="GEF interaction site [polypeptide binding]"
                     /db_xref="CDD:206640"
     Site            408..412
                     /site_type="other"
                     /note="Rab family motif 2 (RabF2)"
                     /db_xref="CDD:206640"
     Site            413..416
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206640"
     Site            order(416,418..421,423..428)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206640"
     Site            order(419..421,423..424)
                     /site_type="other"
                     /note="Rab family motif 3 (RabF3)"
                     /db_xref="CDD:206640"
     Site            427..428
                     /site_type="other"
                     /note="Rab family motif 4 (RabF4)"
                     /db_xref="CDD:206640"
     Site            436..441
                     /site_type="other"
                     /note="Rab family motif 5 (RabF5)"
                     /db_xref="CDD:206640"
     Site            464..468
                     /site_type="other"
                     /note="Rab subfamily motif 3 (RabSF3)"
                     /db_xref="CDD:206640"
     Site            471..474
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206640"
     Site            507..509
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206640"
     Site            523
                     /site_type="other"
                     /note="Rab subfamily motif 4 (RabSF4)"
                     /db_xref="CDD:206640"
     CDS             1..557
                     /gene="RASEF"
                     /gene_synonym="RAB45; TSG"
                     /coded_by="XM_047422827.1:308..1981"
                     /db_xref="GeneID:158158"
                     /db_xref="HGNC:HGNC:26464"
                     /db_xref="MIM:611344"
ORIGIN      
        1 menlaiavkr aqdkaamqls eleeemdqri qaaehktrkd ekrkaeeals dlrrqyetev
       61 gdlqvtikkl rkleeqskrv sqkedvaalk kqiydlsmen qkvkkdllea qtniaflqse
      121 ldalksdyad qslnterdle iiraytedrn slerqieilq tanrklhdsn dglrsalens
      181 yskfnrslhi nnispgntis rsspkfighs pqplgydrss rssyvdedcd slalcdplqr
      241 tncevdslpe scfdsglstl rdpneydsev eykhqrgfqr shgvqesfgg dasdtdvpdi
      301 rdeetfgled vasvldwkpq gsvsegsivs ssrkpisals pqtdlvddna ksfssqkayk
      361 ivlagdaavg kssflmrlck nefrenisat lgvdfqmktl ivdgertvlq lwdtagqerf
      421 rsiaksyfrk adgvlllydv tceksflnir ewvdmiedaa hetvpimlvg nkadirdtaa
      481 tegqkcvpgh fgeklamtyg alfcetsakd gsniveavlh larevkkrtd kddsrsitnl
      541 tgtnskkspq mknccng
//
LOCUS       XP_047279502             246 aa            linear   PRI 20-MAR-2023
DEFINITION  exonuclease mut-7 homolog isoform X7 [Homo sapiens].
ACCESSION   XP_047279502
VERSION     XP_047279502.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047423546.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..246
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..246
                     /product="exonuclease mut-7 homolog isoform X7"
                     /calculated_mol_wt=26721
     CDS             1..246
                     /gene="EXD3"
                     /gene_synonym="mut-7; Nbr"
                     /coded_by="XM_047423546.1:1203..1943"
                     /db_xref="GeneID:54932"
                     /db_xref="HGNC:HGNC:26023"
ORIGIN      
        1 mdpgdpagdp aagerhrmgr dpllllqalq tlwstrerkq lreeawrgfa alddplagll
       61 dmlescrgqr gegpslaawi shqlqcwlqa qpcpslaqhs lrlkqlqara vkvltespps
      121 laaplasifq lqdadrscll ahvhrlhheg rfreaatlga tlklqselgv ekmsiplllq
      181 dkvalveryv agfpdlqrrl lvlmdswcqp gfdikdvasc hvtaagaaas geerlglaga
      241 qpsspe
//
LOCUS       XP_024303390            1040 aa            linear   PRI 20-MAR-2023
DEFINITION  DENN domain-containing protein 1A isoform X9 [Homo sapiens].
ACCESSION   XP_024303390
VERSION     XP_024303390.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_024447622.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1040
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..1040
                     /product="DENN domain-containing protein 1A isoform X9"
                     /calculated_mol_wt=114153
     Region          <14..61
                     /region_name="uDENN"
                     /note="Domain always found upstream of DENN domain, found
                     in a variety of signalling proteins; smart00800"
                     /db_xref="CDD:214824"
     Region          65..243
                     /region_name="DENN"
                     /note="Domain found in a variety of signalling proteins,
                     always encircled by uDENN and dDENN; smart00799"
                     /db_xref="CDD:214823"
     Region          275..341
                     /region_name="dDENN"
                     /note="Domain always found downstream of DENN domain,
                     found in a variety of signalling proteins; smart00801"
                     /db_xref="CDD:129037"
     Region          <675..1026
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     CDS             1..1040
                     /gene="DENND1A"
                     /gene_synonym="FAM31A; KIAA1608"
                     /coded_by="XM_024447622.2:268..3390"
                     /db_xref="GeneID:57706"
                     /db_xref="HGNC:HGNC:29324"
                     /db_xref="MIM:613633"
ORIGIN      
        1 mlkwpipgqv alfqevlqtl tkfcfpfyvd sltvsqvgqn ftfvltdids kqrfgfcrls
       61 sgakscfcil sylpwfevfy kllniladyt tkrqenqwne lletlhklpi pdpgvsvhls
      121 vhsyftvpdt relpsipenr nlteyfvavd vnnmlhlyas mlyerrilii csklstltac
      181 ihgsaamlyp mywqhvyipv lpphlldycc apmpyligih lslmekvrnm alddvvilnv
      241 dtntletpfd dlqslpndvi sslknrlkkv stttgdgvar aflkaqaaff gsyrnalkie
      301 peepitfcee afvshyrsga mrqflqnatq lqlfkqfidg rldllnsgeg fsdvfeeein
      361 mgeyagsdkl yhqwlstvrk gsgailntvk tkanpamktv ykfakdhakm gikevknrlk
      421 qkdiaengca ptpeeqlpkt apsplveakd pklredrrpi tvhfgqlqrl rptrpppkiq
      481 rsrpvrpprp hvvkrpksni avegrrtsvp spehlvkplr hyavflseds sddecqreeg
      541 pssgftesff fsapfewpqp yrtlresdsa egdeaespeq qvrkstgpvp appdraasid
      601 lledvfsnld meaalqplgq aksledlrap kdlreqpgtf dyqrldlggs ersrgvtval
      661 klthpynklw slgqddmaip skppaaspek psallgnsla lprrpqnrds ilnpsdkeev
      721 ptptlgsiti prpqgrktpe lgivppppip rpaklqaaga algdvserlq tdrdrraals
      781 pgllpgvvpq gptellqpls pgpgaagtss dallalldpl stawsgstlp srpatpnvat
      841 pftpqfsfpp agtptpfpqp plnpfvpsmp aapptlplvs tpagpfgapp aslgpafasg
      901 lllssagfca phrsqpnlsa lsmpnlfgqm pmgthtsplq plgppavaps rirtlplars
      961 saraaetkqg lalrpgdppl lpprppqgle ptlqpsapqq ardpfedllq ktkqdvspsp
     1021 alapapdsve qlrkqwetfe
//
LOCUS       XP_016870486            2567 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 462 isoform X1 [Homo sapiens].
ACCESSION   XP_016870486
VERSION     XP_016870486.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_017014997.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000009.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2567
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
     Protein         1..2567
                     /product="zinc finger protein 462 isoform X1"
                     /calculated_mol_wt=291116
     Region          2054..2074
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2086..2110
                     /region_name="zf-H2C2_5"
                     /note="C2H2-type zinc-finger domain; pfam13909"
                     /db_xref="CDD:404746"
     Region          2088..2108
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(2093,2095,2097,2099..2100,2103..2104,2107,2122,
                     2126..2127,2132..2133,2137,2151,2153,2155,2157..2158,
                     2161..2162,2166)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          2117..2138
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2146..2167
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2317..2337
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2363..2383
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(2368,2370,2372..2373,2378..2379,2382,2399,
                     2402..2403,2406..2407,2410,2482,2484,2486,2488..2489,
                     2492..2493,2496)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          2391..2412
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          2477..2497
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..2567
                     /gene="ZNF462"
                     /gene_synonym="WSKA; Zfp462; ZFPIP"
                     /coded_by="XM_017014997.3:35530..43233"
                     /db_xref="GeneID:58499"
                     /db_xref="HGNC:HGNC:21684"
                     /db_xref="MIM:617371"
ORIGIN      
        1 mevlqcdgcd frapsyedlk ahiqdvhtaf lqptdvaedn vnelrcgsvn asnqtevefs
       61 sikdefaiae dlsgqnatsl gtggyyghsp gyygqhiaan pkptnkffqc kfcvryfrsk
      121 nlliehtrkv hgaqaegsss gppvpgslny nimmhegfgk vfscqfctyk sprrariikh
      181 qkmyhknnlk ettapppapa pmpdpvvppv slqdpckelp aevversile smvkpltksr
      241 gnfccewcsy qtprrerwcd hmmkkhrsmv kilsslrqqq egtnlpdvpn ksapsptsns
      301 tyltmnaasr eipnttvsnf rgsmgnsimr pnssaskfsp msypqmkpks phnsglvnlt
      361 ersrygmtdm tnssadletn smlndsssde elneidseng lsamdhqtsg lsaeqlmgsd
      421 gnklletkgi pfrrfmnrfq cpfcpfltmh rrsisrhien ihlsgktavy kcdecpftck
      481 sslklgahkq chtgttsdwd avnsqsesis sslnegvvsy esssingrks gvmldplqqq
      541 qppqpppppp ppppsqpqpl qqpqppqlqp phqvppqpqt qppptqqpqp ptqaaplhpy
      601 kctmcnystt tlkglrvhqq hkhsfcdnlp kfegqpsslp lenetdshps ssntvkksqt
      661 silglssknn fvakasrkla ndfpldlspv kkrtrideia snlqskinqt kqqedavinv
      721 eddeeeeedn eveieveldr eeeptepiie vptsfsaqqi wvrdtsepqk epnfrnithd
      781 ynatngaeie ltlsedeedy ygsstnlkdh qvsntallnt qtpiygtehn sentdfgdsg
      841 rlyyckhcdf nnksarsvst hyqrmhpyik fsfryildpn dhsavyrcle cyidytnfed
      901 lqqhygehhp eamnvlnfdh sdliyrcrfc sytspnvrsl mphyqrmhpt vkinnamifs
      961 syvveqqegl ntesqtlrei lnsapknmat stpvargggl patfnkntpk tftpecenqk
     1021 dplvntvvvy dcdvcsfasp nmhsvlvhyq kkhpeekasy friqktmrmv svdrgsalsq
     1081 lsfevgapms pkmsnmgspp ppqppppdls telyyckhcs ysnrsvvgvl vhyqkrhpei
     1141 kvtakyirqa pptaammrgv egpqgsprpp apiqqlnrss serdgppven emffcqhcdy
     1201 gnrtvkgvli hyqkkhrdfk anadvirqht atirslcdrn qkkpascvlv spsnlerdkt
     1261 klralkcrqc sytspyfyal rkhikkdhpa lkatvtsimr wafldgliea gyhcewciys
     1321 htepnglllh yqrrhpehyv dytymatklw agpdpsppsl tmpaeaktyr crdcvfeavs
     1381 iwditnhyqa fhpwamngde svlldiikek davekpilss eelagpvnce nsiptpfpeq
     1441 eaecpedarl spekslqlas anpaisstpy qctvcqseyn nlhgllthyg kkhpgmkvka
     1501 adfaqdidin pgavykcrhc pyintrihgv lthyqkrhps ikvtaedfvh dveqsadisq
     1561 ndveetsrif kqgygayrck lcpythgtle klkihyekyh nqpefdvfsq sppklpvple
     1621 pemttevsps qvsiteeevg eepvstshfs tshlvshtvf rcqlckyfcs trkgiarhyr
     1681 ikhnnvraqp egknnlfkca lcaytnpirk glaahyqkrh didayythcl aasrtisdkp
     1741 nkviipsppk ddspqlseel rravekkkcs lcsfqsfskk givshymkrh pgvfpkkqha
     1801 sklggyftav yadehekptl meeeergnfe kaevegeaqe iewlpfrcik cfklsfstae
     1861 llcmhytdhh srdlkrdfii lgngprlqns tyqckhcdsk lqstaeltsh lnihneefqk
     1921 rakrqerrkq llskqkyadg afadfkqerp fghleevpki kerkvvgykc kfcvevhptl
     1981 raicnhlrkh vqygnvpavs aavkqeaddp ahlfldglea akdasgalvg rvdgehclld
     2041 gmledetrpg gyhcsqcdrv lmsmqglrsh ershlalamf tredkyscqy csfvsafrhn
     2101 ldrhmqthhg hhkpfrcklc sfkssynsrl kthilkahag ehaykcswcs fstmtisqlk
     2161 ehslkvhgka ltlprprivs llsshshhss qkatpaeeve dsndssysep pdvqqqlnhy
     2221 qsaalarnns rvspvplsga aagteqktea vlhcefcefs sgyiqsirrh yrdkhggkkl
     2281 fkckdcsfyt gfksaftmhv eaghsavpee gpkdlrcplc lyhtkykrnm idhivlhree
     2341 rvvpievcrs klskylqgvv frcdkctftc ssdeslqqhi ekhnelkpyk cqlcyyetkh
     2401 teeldshlrd ehkvsrnfel vgrvnldqle qmkekmesss sddedkeeem nskaedrelm
     2461 rfsdhgaaln tekrfpcefc grafsqgsew erhvlrhgma lndtkqvsre eihpkeimen
     2521 svkmpsieek eddeaigidf slknetvaic vvtadkslle naeakke
//
LOCUS       XP_054189019             317 aa            linear   PRI 20-MAR-2023
DEFINITION  deoxyribonuclease TATDN1 isoform X1 [Homo sapiens].
ACCESSION   XP_054189019
VERSION     XP_054189019.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333044.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791784) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..317
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.13"
     Protein         1..317
                     /product="deoxyribonuclease TATDN1 isoform X1"
                     /calculated_mol_wt=35670
     CDS             1..317
                     /gene="TATDN1"
                     /gene_synonym="CDA11"
                     /coded_by="XM_054333044.1:128..1081"
                     /db_xref="GeneID:83940"
                     /db_xref="HGNC:HGNC:24220"
                     /db_xref="MIM:619364"
ORIGIN      
        1 mfrgiyrgvq khqddlqdvi graveigvkk fmitggnlqd skdalhlaqt ngmffstvgc
       61 hptrcgefek nnpdlylkel lnlaennkgk vvaigecgld fdrlqfcpkd tqlkyfekqf
      121 elseqtklpm flhcrnshae fldimkrnrd rcvggvvhsf dgtkeaaaal idldlyigfn
      181 alcihihvis dygrtvysvt vihlcsqrnr gskklgnssl kteanlevlk sipseklmie
      241 tdapwcgvks thagskyirt afptkkkwes ghclkdrnep chiiqileim savrdedple
      301 lantlynnti kvffpgi
//
LOCUS       XP_054189082             257 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein C10orf82 isoform X5 [Homo sapiens].
ACCESSION   XP_054189082
VERSION     XP_054189082.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333107.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791790) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..257
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.3"
     Protein         1..257
                     /product="uncharacterized protein C10orf82 isoform X5"
                     /calculated_mol_wt=28603
     CDS             1..257
                     /gene="C10orf82"
                     /coded_by="XM_054333107.1:402..1175"
                     /db_xref="GeneID:143379"
                     /db_xref="HGNC:HGNC:28500"
ORIGIN      
        1 mvsqpglsds rpsassqese seimepsktf mrnlpitpgy sgfvpflscq gmskeddmnh
       61 cvktfqektq rykeqlrelc cavatapklk pvnseetvlq alhqynlqyh plileckyvk
      121 kplqeppipg wagylprakv tefgcgtryt vmakncykdf leiterakka hlkpyeeiyg
      181 vsstktsaps pkvlqheell pkypdfsipd gscpalgrpl redpktpltc gcaqrpsipc
      241 sgkmylepls sakyaeg
//
LOCUS       XP_047299329             308 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-specific Y-encoded protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_047299329
VERSION     XP_047299329.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_047443373.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_025791821) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yp11.2"
     Protein         1..308
                     /product="testis-specific Y-encoded protein 2 isoform X1"
                     /calculated_mol_wt=35029
     Region          126..288
                     /region_name="NAP"
                     /note="Nucleosome assembly protein (NAP); cl08298"
                     /db_xref="CDD:447601"
     CDS             1..308
                     /gene="LOC124905624"
                     /coded_by="XM_047443373.1:18..944"
                     /db_xref="GeneID:124905624"
ORIGIN      
        1 mrpegsltyr vperlrqgfc gvgraaqalv casakegtaf rmeavqegaa gveseqaalg
       61 eeavlllddi maevevvaee eglverreea qraqqavpgp gpmtpesale ellavqvele
      121 pvnaqarkaf srqrekmerr rkphldrrga viqsvpgfwa nvianhpqms alitdededm
      181 lsymvsleve eekhrvhlck imlffrsnpy fqnkvitkey lvniteyras hstpiewypd
      241 yeveayrrrh hnsslnffnw fsdhnfagsn kiaeilckdl wrnplqyykr mkppeegtet
      301 sgdsqlls
//
LOCUS       XP_054189525             152 aa            linear   PRI 20-MAR-2023
DEFINITION  leukocyte-associated immunoglobulin-like receptor 1 isoform X9
            [Homo sapiens].
ACCESSION   XP_054189525
VERSION     XP_054189525.1
DBLINK      BioProject: PRJNA168
DBSOURCE    REFSEQ: accession XM_054333550.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NW_003571061.2) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..152
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     Protein         1..152
                     /product="leukocyte-associated immunoglobulin-like
                     receptor 1 isoform X9"
                     /calculated_mol_wt=16166
     CDS             1..152
                     /gene="LAIR1"
                     /gene_synonym="CD305; LAIR-1"
                     /coded_by="XM_054333550.1:128..586"
                     /db_xref="GeneID:3903"
                     /db_xref="HGNC:HGNC:6477"
                     /db_xref="MIM:602992"
ORIGIN      
        1 msphptallg lvlclaqtih tqeedlprps isaepgtvip lgshvtfvcr gpvgvqtfrl
       61 eresrstynd tedvsqasps esearfrids vsegnagpyr ciyykppkws eqsdylellv
      121 ketsggpdsp dtepgssagt vpgteasgfd ap
//
LOCUS       XP_054190604            1054 aa            linear   PRI 20-MAR-2023
DEFINITION  roquin-1 isoform X11 [Homo sapiens].
ACCESSION   XP_054190604
VERSION     XP_054190604.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054334629.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1054
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1054
                     /product="roquin-1 isoform X11"
                     /calculated_mol_wt=116917
     CDS             1..1054
                     /gene="RC3H1"
                     /gene_synonym="FHL6; IMDSHY; RNF198; ROQUIN"
                     /coded_by="XM_054334629.1:413..3577"
                     /db_xref="GeneID:149041"
                     /db_xref="HGNC:HGNC:29434"
                     /db_xref="MIM:609424"
ORIGIN      
        1 mpvqapqwtd flscpictqt fdetirkpis lgcghtvckm clnklhrkac pfdqttintd
       61 iellpvnsal lqlvgaqvpe qqpitlcsgv edtkhyeeak kcveelalyl kplssargvg
      121 lnsttqsvls rpmqrklvtl vhcqlveeeg riramraars lgertvteli lqhqnpqqls
      181 snlwaavrar gcqflgpamq eealklvlla ledgsalsrk vlvlfvvqrl eprfpqaskt
      241 sighvvqlly rascfkvtkr dedsslmqlk eefrtyealr rehdsqivqi ameaglriap
      301 dqwssllygd qshkshmqsi idklqtpasf aqsvqeltia lqrtgdpanl nrlrphlell
      361 anidpspdap pptweqleng lvavrtvvhg lvdyiqnhsk kgadqqqppq hskyktymcr
      421 dmkqrggcpr gasctfahsq eelekfrkmn krlvprrpls aslgqlnevg lpsaailpde
      481 gavdlpsrkp palpngivst gntvtqlipr gtdpsydssl kpgkidhlss sapgsppdlg
      541 padlppmpvt kplqmvprgs qlypaqqtdv yyqdprgaap pfepapyqqg myytpppqcv
      601 srfvrpppsa pepappyldh yppylqervv nsqygtqpqq yppiypshyd grrvypapsy
      661 treeifresp ipieippaav psyvpesrer yqqiesyypv aphptqirps ylreppysrl
      721 ppppqphpsl delhrrrkei maqleerkvi spppfapspt lpptfhpeef ldedlkvagk
      781 ykgndysqys pwscdtigsy igtkdakpkd vvaagsvemm nveskgmrdq rldlqrraae
      841 tsdddlipfg drptvsrfga isrtsktiyq gagpmqamap qgaptksini sdyspygthg
      901 gwgaspysph qnipsqghfs ererismsev ashgkplpsa ereqlrlelq qlnhqisqqt
      961 qlrgleenqc sldmksklnt skqaengqpe pqnkvpaedl tltfsdvpng saltqenisl
     1021 lsnktsslnl sedpegggdn ndsqrsgvtp ssap
//
LOCUS       XP_054191570            5181 aa            linear   PRI 20-MAR-2023
DEFINITION  E3 ubiquitin-protein ligase UBR4 isoform X38 [Homo sapiens].
ACCESSION   XP_054191570
VERSION     XP_054191570.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054335595.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5181
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..5181
                     /product="E3 ubiquitin-protein ligase UBR4 isoform X38"
                     /calculated_mol_wt=573509
     CDS             1..5181
                     /gene="UBR4"
                     /gene_synonym="p600; RBAF600; ZUBR1"
                     /coded_by="XM_054335595.1:19..15564"
                     /db_xref="GeneID:23352"
                     /db_xref="HGNC:HGNC:30313"
                     /db_xref="MIM:609890"
ORIGIN      
        1 matsggeeaa aaapapgtpa tgadttpgwe vavrpllsas ysafemkelp qlvasviese
       61 seilhhekqy epfyssfval sthyittvcs liprnqlqsv aaackvlief sllrlenpde
      121 acavsqkhli llikglctgc srldrteiit ftammksakl pqtvktlsdv edqkelaspv
      181 spelrqkevq mnflnqltsv fnprtvasqp istqtlvege ndeqsstdqa saiktknvfi
      241 aqnvaslqel ggsekllrvc lnlpyflryi nrfqdavlan sffimpatva datavrngfh
      301 slvidvtmal dtlslpvlep lnpsrlqdvt vlslsclyag vsvatcmail hvgsaqqvrt
      361 gstsskeddy esdaativqk cleiydmigq aisssrragg ehyqnfqllg awcllnslfl
      421 ilnlsptala dkgkekdpla alrvrdilsr tkegvgspkl gpgkghqgfg vlsvilanha
      481 iklltslfqd lqvealhkgw etdgppaals imaqstsiqr iqrlidsvpl mnllltllst
      541 syrkacvlqr qrkgsmssda sastdsntyy eddfssteed ssqdddsepi lgqwfeetis
      601 pskekaappp ppppppless prvkspskqa pgekgnilas rkdpelflgl asnilnfits
      661 smlnsrnnfi rnylsvslse hhmatlasii kevdkdglkg ssdeefaaal yhfnhslvts
      721 dlqspnlqnt llqqlgvapf segpwplyih pqslsvlsrl lliwqhkasa qgdpdvpecl
      781 kvwdrflstm kqnalqgvvp setedlnveh lqmlllifhn ftetgrrail slfvqiiqel
      841 svnmdaqmrf vplilarlll ifdyllhqys kapvylfeqv qhnllsppfg wasgsqdsns
      901 rrattplyhg fkeveenwsk hfssdavphp rfycvlspea seddlnrlds vacdvlfskl
      961 vkydelyaal tallaagsql dtvrrkenkn vtaleacalq yyflilwril gilppsktyi
     1021 nqlsmnspem secdilhtlr wssrlrissy vnwikdhlik qgmkaehass llelasttkc
     1081 ssvkydveiv eeyfarqiss fcsidcttil qlheipslqs iytldaaisk vqvsldehfs
     1141 kmaaetdphk sseitknllp atlqlidtya sftrayllqn fneegttekp skeklqgfaa
     1201 vlaigssrck antlgptlvq nlpssvqtvc eswnnintne fpnigswrna fandtipses
     1261 yisavqaahl gtlcsqslpl aaslkhtlls lvrltgdliv wsdemnppqv irtllpllle
     1321 sstesvaeis snslerilgp aesdeflarv yeklitgcyn ilanhadpns gldesileec
     1381 lqylekqles sqarkameef fsdsgelvqi mmatanenls akfcnrvlkf ftklfqltek
     1441 spnpsllhlc gslaqlacve pvrlqawltr mttsppkdsd qldviqenrq llqllttyiv
     1501 rensqvgegv cavllgtltp matemlangd gtgfpelmvv matlasagqg aghlqlhnaa
     1561 vdwlsrckky lsqknvvekl nanvmhgkhv milectchim syladvtnal sqsngqgpsh
     1621 lsvdgeerai evdsdwveel aveeedsqae dsdedslcnk lctftitqke fmnqhwyhch
     1681 tckmvdgvgv ctvcakvchk dheisyakyg sffcdcgake dgsclalvkr tpssgmsstm
     1741 kesafqsepr iseslvrhas tsspadkakv tisdgkvade ekpkksslcr tvegcreelq
     1801 nqanfsfapl vldmlnflmd aiqtnfqqas avgsssraqq alselhtvek avemtdqlmv
     1861 ptlgsqegaf envrmnysgd qgqtirqlis ahvlrrvamc vlssphgrrq hlavshekgk
     1921 itvlqlsall kqadsskrkl tltrlasapv pftvlsltgn pckedylavc glkdchvltf
     1981 sssgsvsdhl vlhpqlatgn fiikavwlpg sqtelaivta dfvkiydlcv dalsptfyfl
     2041 lpsskirdvt flfneegkni ivimssagyi ytqlmeeass aqqgpfyvtn vleinhedlk
     2101 dsnsqvaggg vsvyyshvlq mlffsycqgk sfaatisrtt levlqlfpin ikssnggskt
     2161 spalcqwsev mnhpglvccv qqttgvplvv mvkpdtfliq eiktlpakak iqdmvairht
     2221 acneqqrttm illcedgslr iymanvents ywlqpslqps svisimkpvr krktatittr
     2281 tssqvtfpid ffehnqqltd vefggndllq vynaqqikhr lnstgmyvan tkpggftiei
     2341 snnnstmvmt gmriqigtqa ierapsyiei fgrtmqlnls rsrwfdfpft reealqadkk
     2401 lnlfigasvd pagvtmidav kiygktkeqf gwpdeppeef psasvsnicp snlnqsngtg
     2461 dsdsaapttt sgtvlerlvv sslealescf avgpiieker nknaaqelat lllslpapas
     2521 vqqqskslla slhtsrsayh shkdqallsk avqclntssk egkdldpevf qrlvitarsi
     2581 aimrpnnlvh ftesklpqme tgmdegkepq kqlegdccsf itqlvnhfwk lhaskpknaf
     2641 lapaclpglt hieatvnalv diihgyctce ldcintaski ymqmllcpdp avsfsckqal
     2701 irvlrprnkr rhvtlpsspr sntpmdkddd ddddadekmq ssgipngghi rqesqeqsev
     2761 dhgdfemvse smvletaenv nngnpsplea llagaegfpp mldippdadd etmvelaial
     2821 slqqdqqgss ssalglqslg lsgqapssss ldagtlsdtt asapasddeg staatdgstl
     2881 rtspadhggs vgsesggsav dsvagehsvs grssaygdat aeghpagpgs vssstgaist
     2941 ttghqegdgs egegegeteg dvhtsnrlhm vrlmllerll qtlpqlrnvg gvraipymqv
     3001 ilmlttdldg edekdkgald nllsqliael gmdkkdvskk nersalnevh lvvmrllsvf
     3061 msrtksgsks sicessslis sataaallss gavdyclhvl kslleywksq qndeepvats
     3121 qllkphttss ppdmspfflr qyvkghaadv feaytqllte mvlrlpyqik kitdtnsrip
     3181 ppvfdhswfy flseylmiqq tpfvrrqvrk lllficgske kyrqlrdlht ldshvrgikk
     3241 lleeqgiflr asvvtassgs alqydtlisl mehlkacaei aaqrtinwqk fcikddsvly
     3301 fllqvsflvd egvspvllql lscalcgskv laalaassgs ssassssapv aassgqattq
     3361 sksstkkskk eekekekdge tsgsqedqlc talvnqlnkf adketliqfl rcfllesnss
     3421 svrwqahclt lhiyrnssks qqellldlmw siwpelpayg rkaaqfvdll gyfslktpqt
     3481 ekklkeysqk aveilrtqnh iltnhpnsni yntlsglvef dgyylesdpc lvcnnpevpf
     3541 cyiklssikv dtrytttqqv vkligshtis kvtvkigdlk rtkmvrtinl yynnrtvqai
     3601 velknkparw hkakkvqltp gqtevkidlp lpivasnlmi efadfyenyq astetlqcpr
     3661 csasvpanpg vcgncgenvy qchkcrsiny dekdpflcna cgfckyarfd fmlyakpcca
     3721 vdpieneedr kkavsnintl ldkadrvyhq lmghrpqlen llckvneaap ekpqddsgta
     3781 ggisstsasv nryilqlaqe ycgdcknsfd elskiiqkvf asrkelleyd lqqreaatks
     3841 srtsvqptft asqyralsvl gcghtsstkc ygcasavteh citllralat npalrhilvs
     3901 qglirelfdy nlrrgaaamr eevrqlmcll trdnpeatqq mndliigkvs talkghwanp
     3961 dlasslqyem llltdsiske dscwelrlrc alslflmavn iktpvvveni tlmclrilqk
     4021 likppaptsk knkdvpveal ttvkpycnei haqaqlwlkr dpkasydawk kclpirgidg
     4081 ngkapsksel rhlyltekyv wrwkqflsrr gkrtspldlk lghnnwlrqv lftpatqaar
     4141 qaactiveal atipsrkqqv ldlltsylde lsiagecaae ylalyqklit sahwkvylaa
     4201 rgvlpyvgnl itkeiarlla leeatlstdl qqgyalkslt gllssfveve sikrhfksrl
     4261 vgtvlngylc lrklvvqrtk lidetqdmll emledmttgt esetkafmav cietakrynl
     4321 ddyrtpvfif erlcsiiype enevteffvt lekdpqqedf lqgrmpgnpy ssnepgigpl
     4381 mrdiknkicq dcdlvalled dsgmellvnn kiisldlpva evykkvwctt negepmrivy
     4441 rmrgllgdat eefiesldst tdeeedeeev ykmagvmaqc gglecmlnrl agirdfkqgr
     4501 hlltvllklf sycvkvkvnr qqlvklemnt lnvmlgtlnl alvaeqeskd sggaavaeqv
     4561 lsimeiilde snaeplsedk gnllltgdkd qlvmlldqin stfvrsnpsv lqgllriipy
     4621 lsfgevekmq ilverfkpyc nfdkydedhs gddkvfldcf ckiaagiknn snghqlkdli
     4681 lqkgitqnal dymkkhipsa knldadiwkk flsrpalpfi lrllrglaiq hpgtqvligt
     4741 dsipnlhkle qvssdegigt laenllealr ehpdvnkkid aarretraek krmamamrqk
     4801 algtlgmttn ekgqvvtkta llkqmeelie epgltccicr egykfqptkv lgiytftkrv
     4861 aleelenkpr kqqgystvsh fnivhydchl aavrlargre ewesaalqna ntkcngllpv
     4921 wgphvpesaf atclarhnty lqectgqrep tyqlnihdik llflrfameq sfsadtgggg
     4981 resnihlipy iihtvlyvln ttratsreek nlqgfleqpk ekwvesafev dgpyyftvla
     5041 lhilppeqwr atrveilrrl lvtsqarava pggatrltdk avkdysayrs sllfwalvdl
     5101 iynmfkkvpt snteggwscs laeyirhndm piyeaadkal ktfqeefmpv etfsefldva
     5161 gllseitdpe sflkdllnsv p
//
LOCUS       XP_054192911             336 aa            linear   PRI 20-MAR-2023
DEFINITION  sorting nexin-7 isoform X3 [Homo sapiens].
ACCESSION   XP_054192911
VERSION     XP_054192911.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054336936.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..336
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..336
                     /product="sorting nexin-7 isoform X3"
                     /calculated_mol_wt=39076
     CDS             1..336
                     /gene="SNX7"
                     /coded_by="XM_054336936.1:110..1120"
                     /db_xref="GeneID:51375"
                     /db_xref="HGNC:HGNC:14971"
                     /db_xref="MIM:614904"
ORIGIN      
        1 mdmnsfspmm ptsplsminq ikfedepdlk dlfitvdepe shvttietfi tyriitktsr
       61 gefdssefev rrryqdflwl kgkleeahpt liipplpekf ivkgmverfn ddfietrrka
      121 lhkflnriad hptltfnedf kifltaqawe lsshkkqgpg llsrmgqtvr avassmrgvk
      181 nrpeefmemn nfielfsqki nlidkisqri ykeereyfde mkeygpihil wsaseedlvd
      241 tlkdvascid rcckatekrm sglseallpv vheyvlysem lmgvmkrrdq iqaeldskve
      301 vltykkadtd lclatwesfl tsqtnlhlee asedkp
//
LOCUS       XP_054195922             370 aa            linear   PRI 20-MAR-2023
DEFINITION  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform X3
            [Homo sapiens].
ACCESSION   XP_054195922
VERSION     XP_054195922.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054339947.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060925) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 50% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..370
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..370
                     /product="acyl-CoA:lysophosphatidylglycerol
                     acyltransferase 1 isoform X3"
                     /calculated_mol_wt=42958
     CDS             1..370
                     /gene="LPGAT1"
                     /gene_synonym="FAM34A; FAM34A1; LPLAT7; NET8"
                     /coded_by="XM_054339947.1:906..2018"
                     /db_xref="GeneID:9926"
                     /db_xref="HGNC:HGNC:28985"
                     /db_xref="MIM:610473"
ORIGIN      
        1 maitleeapw lgwllvkalm rfafmvvnnl vaipsyicyv iilqplrvld skrfwyiegi
       61 mykwllgmva swgwyagytv mewgedikav skdeavmlvn hqatgdvctl mmclqdkglv
      121 vaqmmwlmdh ifkytnfgiv slvhgdffir qgrsyrdqql lllkkhlenn yrsrdrkwiv
      181 lfpeggflrk rretsqafak knnlpfltnv tlprsgatki ilnalvaqqk ngspaggdak
      241 eldskskglq wiidttiayp kaepidiqtw ilgyrkptvt hvhyrifpik dvpletddlt
      301 twlyqrfvek edllshfyet gafppskghk eavsremtls nlwifliqsf aflsgymwyn
      361 iiqyfyhclf
//
LOCUS       XP_054223226             879 aa            linear   PRI 20-MAR-2023
DEFINITION  ribosome biogenesis protein BMS1 homolog isoform X5 [Homo sapiens].
ACCESSION   XP_054223226
VERSION     XP_054223226.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054367251.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060934) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..879
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..879
                     /product="ribosome biogenesis protein BMS1 homolog isoform
                     X5"
                     /calculated_mol_wt=99250
     CDS             1..879
                     /gene="BMS1"
                     /gene_synonym="ACC; BMS1L"
                     /coded_by="XM_054367251.1:236..2875"
                     /db_xref="GeneID:9790"
                     /db_xref="HGNC:HGNC:23505"
                     /db_xref="MIM:611448"
ORIGIN      
        1 meakdqkkhr kknsgpkaak kkkrllqdlq lgdeedarkr npkafavqsa vrmarsfhrt
       61 qdlktkkhhi pvvdrtplep ppivvvvmgp pkvgkstliq clirnftrqk lteirgpvti
      121 vsgkkrrlti iecgcdinmm idlakvadlv lmlidasfgf emetfeflni cqvhgfpkim
      181 gvlthldsfk hnkqlkktkk rlkhrfwtev ypgaklfyls gmvhgeyqnq eihnlgrfit
      241 vmkfrpltwq tshpyiladr medltnpedi rtnikcdrkv slygylrgah lknksqihmp
      301 gvgdfavsdi sflpdpcalp eqqkkrclne keklvyapls gvggvlydkd avyvdlggsh
      361 vfqdevgpth elvqslisth stidakmass rvtlfsdskp lgsedidnqg lmmpkeekqm
      421 dlntgrmrrk aifgdedesg dsddeeddem seddglengs sdeeaeeeen aemtdqymav
      481 kgikrrklel eedsemdlpa fadsdddler ssaeegeaee adesseeedc tagekgisgs
      541 kaagegskag lspancqsdr vnleksllmk kaalptfdsg hctaeevfas edeseesssl
      601 saeeedsene eairkklskp sqvssgqklg pqnfidetsd ienllkeeed yreenndske
      661 tsgalkwked lsrkaaeafl rqqqaapnlr kliygtvted neeedddtle elgglfrvnq
      721 pdreckhkad sldcsrflve aphdwdleev mnsirdcfvt gkweddkdaa kvlaedeely
      781 gdfedletgd vhkgksgpnt qnediekevk eeidpdeees akkkhldkkr klkemfdaey
      841 degestyfdd lkgemqkqaq itayrffysp sctaesrri
//
LOCUS       XP_054224068            1388 aa            linear   PRI 20-MAR-2023
DEFINITION  centrosomal protein of 164 kDa isoform X39 [Homo sapiens].
ACCESSION   XP_054224068
VERSION     XP_054224068.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368093.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1388
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1388
                     /product="centrosomal protein of 164 kDa isoform X39"
                     /calculated_mol_wt=156711
     CDS             1..1388
                     /gene="CEP164"
                     /gene_synonym="NPHP15"
                     /coded_by="XM_054368093.1:467..4633"
                     /db_xref="GeneID:22897"
                     /db_xref="HGNC:HGNC:29182"
                     /db_xref="MIM:614848"
ORIGIN      
        1 magrplrigd qlvleedyde tyipseqeil efareigidp ikepelmwla regivaplpg
       61 ewkpcqditg diyyfnfang qsmwdhpcde hyrslviqer aklstsgaik kkkkkkekkd
      121 kkdrdppkss lalgsslapv hvplgglapl rglvdtppsa lrgsqsvslg ssvesgrqlg
      181 elmlpsqglk tsaytkgllg siyedktals llglgeetne edeeesdnqe slrtsqpeek
      241 kdvsldsdaa gpptpckpss pgadsslssa vgkgrqgsga rpglpekeen eksepkicrn
      301 lvtpkadptg sepakaseke apedtvdage egsrreeaak epkkkasale egssdasqel
      361 eisehmkepq lsdsiasdpk sfhgldfgfr srisehlldv dvlspvlgga crqaqqplgi
      421 edkddsqssq delqskqskg leeryhrlsp plpheeraqs pprslateee ppqgpegqpe
      481 wkeaeelged saaslslqls lqrrstepva ppeqlseaal kameeavaqv leqdqrhlle
      541 skqekmqqlr eklcqeeeee ilrlhqqkeq slsslrerlq kaieeeearm reeesqrlsw
      601 lraqvqsstq adedqiraeq easlqklree lesqqkaera sleqknrqml eqlkeeieas
      661 ekseqaalna akekalqqlr eqlegerkea vatlekehsa elerlcssle akhrevvssl
      721 qkkiqeaqqk eeaqlqkclg qvehrvhqks yhvagyehel ssllrekrqe vegeherrld
      781 kmkeehqqvm akareqyeae erkqraellg hltgelerlq rahereletv rqeqhkrled
      841 lrrrhreqer klqdleldle trakdvkarl allevqeeta rrekqqlldv qrqvalksee
      901 atathqqlee aqkehthllq snqqlreild elqarklkle sqvdllqaqs qqlqkhfssl
      961 eaeaqkkqhl lrevtveenn asphfepdlh iedlrkslgt nqtkevsssl sqskedlyld
     1021 slsshnvwhl lsaegvalrs akeflvqqtr smrrrqtalk aaqqhwrhel asaqevakdp
     1081 pgikaledmr knleketrhl demksamrkg hnllkkkeek lnqlesslwe easdegtlgg
     1141 sptkkavtfd lsdmdslsse ssesfspphr ewwrqqrids tpsltsrkih glshslrqis
     1201 sqlssvlsil dslnpqsppp llasmpaqlp prdpkstptp tyygslarfs alssatptst
     1261 qwawdsgqgp rlpssvaqtv ddfllekwrk yfpsgiplls nsptplesrl gymsaseqlr
     1321 llqhshsqvp eagsttfqgi ieanrrwler vkndprlplf sstpkpkatl sllqlgldeh
     1381 nrvkvyrf
//
LOCUS       XP_054224346             534 aa            linear   PRI 20-MAR-2023
DEFINITION  triokinase/FMN cyclase isoform X8 [Homo sapiens].
ACCESSION   XP_054224346
VERSION     XP_054224346.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054368371.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..534
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..534
                     /product="triokinase/FMN cyclase isoform X8"
                     /calculated_mol_wt=54692
     CDS             1..534
                     /gene="TKFC"
                     /gene_synonym="DAK; NET45; TKFCD"
                     /coded_by="XM_054368371.1:1509..3113"
                     /db_xref="GeneID:26007"
                     /db_xref="HGNC:HGNC:24552"
                     /db_xref="MIM:615844"
ORIGIN      
        1 mtskklvnsv agcaddalag lvacnpnlql lqghrvalrs dldslkgrva llsgggsghe
       61 pahagfigkg mltgviagav ftspavgsil aairavaqag tvgtllivkn ytgdrlnfgl
      121 areqaraegi pvemvvigdd saftvlkkag rrglcgtvli hkvagalaea gvgleeiakq
      181 vnvvtkamgt lgvslsscsv pgskptfels adevelglgi hgeagvrrik matadeivkl
      241 mldhmtnttn ashvpvqpgs svvmmvnnlg glsflelgii adatvrsleg rgvkiaralv
      301 gtfmsalemp gisltlllvd epllklidae ttaaawpnva avsitgrkrs rvapaepqea
      361 pdstaaggsa skrmalvler vcstllglee hlnaldraag dgdcgtthsr aaraiqewlk
      421 egpppaspaq llsklsvlll ekmggssgal yglfltaaaq plkaktslpa wsaamdagle
      481 amqkygkaap gdrtmldslw aagqelqawk spgadllqvl tkavkegggl vicp
//
LOCUS       XP_054226077             647 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylinositol-binding clathrin assembly protein isoform X6
            [Homo sapiens].
ACCESSION   XP_054226077
VERSION     XP_054226077.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054370102.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060935) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..647
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..647
                     /product="phosphatidylinositol-binding clathrin assembly
                     protein isoform X6"
                     /calculated_mol_wt=70062
     CDS             1..647
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /coded_by="XM_054370102.1:305..2248"
                     /db_xref="GeneID:8301"
                     /db_xref="HGNC:HGNC:15514"
                     /db_xref="MIM:603025"
ORIGIN      
        1 msgqsltdri taaqhsvtgs avsktvckat theimgpkkk hldyliqctn emnvnipqla
       61 dslferttns swvvvfksli tthhlmvygn erfiqylasr ntlfnlsnfl dksglqgydm
      121 stfirrysry lnekavsyrq vafdftkvkr gadgvmrtmn tekllktvpi iqnqmdalld
      181 fnvnsneltn gvinaafmll fkdairlfaa ynegiinlle kyfdmkknqc kegldiykkf
      241 ltrmtrisef lkvaeqvgid rgdipdlsqa psslldaleq hlaslegkki kdstaasrat
      301 tlsnavssla stglsltkvd erekqaalee eqarlkalke qrlkelakkp htslttaasp
      361 vstsaggimt apaidifstp sssnstsklp ndlldlqqpt fhpsvhpmst asqvastwgd
      421 pfsatvdavd daipslnpfl tkssgdvhls issdvstftt rtpthemfvg ftpspvaqph
      481 psaglnvdfe svfgnkstnv ivdsgggllk ptvasqnqnl pvaklppskl vsddldssla
      541 nlvgnlgign gttkndvnws qpgekkltgg snwqpkvapt tawnaatmap pvmaypattp
      601 tgmigygipp qmgsvpvmtq ptliysqpvm rppnpfgpvs gaqiqfm
//
LOCUS       XP_054227402            1037 aa            linear   PRI 20-MAR-2023
DEFINITION  R3H domain-containing protein 2 isoform X9 [Homo sapiens].
ACCESSION   XP_054227402
VERSION     XP_054227402.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371427.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1037
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1037
                     /product="R3H domain-containing protein 2 isoform X9"
                     /calculated_mol_wt=113716
     CDS             1..1037
                     /gene="R3HDM2"
                     /gene_synonym="CAG6; PR01365"
                     /coded_by="XM_054371427.1:35..3148"
                     /db_xref="GeneID:22864"
                     /db_xref="HGNC:HGNC:29167"
                     /db_xref="MIM:619886"
ORIGIN      
        1 mgqgrmaagr tapsrldlfl icdaipalds wrlsiysgvh rghcillknm snsnttqetl
       61 eimkesekkl veesvnknkf isktpskeei ekecedtslr qetqrrtsnh gharkraksn
      121 sklklvrsla vceesstpfa dgpletqdii qlhiscpsdk eeekstkdvs ekedkdknke
      181 kiprkmlsrd ssqeytdstg idlheflvnt lkknpsnqfk kfpqmtsyhr mllhrvaayf
      241 gmdhnvdqtg kaviinktsn tripeqrfse hikdekntef qqrfilkrdd asmdrddnqi
      301 rvplqdgrrs ksieereeey qrvrerifar etgqngylnd irlskeafss sshkrrqifr
      361 gnreglsrts ssrqsstdse lksleprpws stdsdgsvrs mrppvtkass fsgisiltrg
      421 dsigsskggs agrisrpgma lgapevcnqv tssqsvrgll pctaqqqqqq qqqqlpalpp
      481 tpqqqpplnn hmisqaddls npfgqmslsr qgsteaadps aalfqtplis qhpqqtsfim
      541 astgqplpts nystsshapp tqqvlppqgy mqppqqiqvs yyppgqypns nqqyrplshp
      601 vayspqrgqq lpqpsqqpgl qpmmpnqqqa ayqgmigvqq pqnqgllssq rssmggqmqg
      661 lvvqytplps yqvpvgsdsq nvvqppfqqp mlvpvsqsvq gglpaagvpv yysmippaqq
      721 ngtspsvgfl qppgseqyqm pqspspcspp qmpqqysgvs psgpgvvvmq lnvpngpqpp
      781 qnpsmvqwsh ckyysmdqrg qkpgdlyspd sspqantqms sspvtsptqs papspvtsls
      841 svctglsplp vltqfprpgg paqgdgrysl lgqplqynls icppllhgqs tytvhqgqsg
      901 lkhgnrgkrq alksastdlg tadvvlgrvl evtdlpegit rteadklftq lamsgakiqw
      961 lkdaqglpgg gggdnsgtae ngrhsdlaal ytivavfpsp laaqnaslrl nnsvsrfklr
     1021 makknydlri lerassq
//
LOCUS       XP_054227609             270 aa            linear   PRI 20-MAR-2023
DEFINITION  single-strand selective monofunctional uracil DNA glycosylase
            isoform X1 [Homo sapiens].
ACCESSION   XP_054227609
VERSION     XP_054227609.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371634.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 4% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..270
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..270
                     /product="single-strand selective monofunctional uracil
                     DNA glycosylase isoform X1"
                     /calculated_mol_wt=29731
     CDS             1..270
                     /gene="SMUG1"
                     /gene_synonym="FDG; HMUDG; UNG3"
                     /coded_by="XM_054371634.1:622..1434"
                     /db_xref="GeneID:23583"
                     /db_xref="HGNC:HGNC:17148"
                     /db_xref="MIM:607753"
ORIGIN      
        1 mpqafllgsi hepagalmep qpcpgslaes fleeelrlna elsqlqfsep vgiiynpvey
       61 awephrnyvt rycqgpkevl flgmnpgpfg maqtgvpfge vsmvrdwlgi vgpvltppqe
      121 hpkrpvlgle cpqsevsgar fwgffrnlcg qpevffhhcf vhnlcpllfl apsgrnltpa
      181 elpakqreql lgicdaalcr qvqllgvrlv vgvgrlaeqr arralaglmp evqvegllhp
      241 sprnpqankg weavakerln elgllplllk
//
LOCUS       XP_054227645             519 aa            linear   PRI 20-MAR-2023
DEFINITION  T-complex protein 11-like protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054227645
VERSION     XP_054227645.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054371670.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..519
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..519
                     /product="T-complex protein 11-like protein 2 isoform X1"
                     /calculated_mol_wt=57959
     CDS             1..519
                     /gene="TCP11L2"
                     /coded_by="XM_054371670.1:1274..2833"
                     /db_xref="GeneID:255394"
                     /db_xref="HGNC:HGNC:28627"
                     /db_xref="MIM:619889"
ORIGIN      
        1 mpfngekqcv gedqpsdsds srfsesmasl sdyecsrqsf asdsssksss pastspprvv
       61 tfdevmatar nlsnltlahe iavnenfqlk qealpeksla grvkhivhqa fwdvldseln
      121 adppefehai klfeeireil lsfltpggnr lrnqicevld tdlirqqaeh savdiqglan
      181 yvistmgklc apvrdndire lkatgnivev lrqifhvldl mqmdmanfti mslrphlqrq
      241 lveyertkfq eileetpsal nqttewikes vneelfslse saltpgaent skpslsptlv
      301 lnnsylkllq wdyqkkelpe tlmtdgarlq elteklnqlk iiaclslitn nmvgaitggl
      361 pelasrltri savllegmnk etfnlkevln sigiqtcvev nktlmerglp tlnaeiqanl
      421 igqfssieee dnpiwslidk riklymrrll clpspqkcmp pmpgglaviq qelealgsqy
      481 anivnlnkqv ygpfyanilr kllfneeamg kvdaspptn
//
LOCUS       XP_054228735             675 aa            linear   PRI 20-MAR-2023
DEFINITION  peroxisomal biogenesis factor 5 isoform X10 [Homo sapiens].
ACCESSION   XP_054228735
VERSION     XP_054228735.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054372760.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 3% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..675
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..675
                     /product="peroxisomal biogenesis factor 5 isoform X10"
                     /calculated_mol_wt=74505
     CDS             1..675
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /coded_by="XM_054372760.1:249..2276"
                     /db_xref="GeneID:5830"
                     /db_xref="HGNC:HGNC:9719"
                     /db_xref="MIM:600414"
ORIGIN      
        1 mllcrahrvl glrgarelav tmamrelvea ecgganplmk laghftqdka lrqeglrpgp
       61 wppgapasea vsvlevespg aaseaaskpl gvasedelva eflqdqnapl vsrapqtfkm
      121 ddllaemqqi eqsnfrqapq rapgvadlal senwaqefla agdavdvtqd ynetdwsqef
      181 isevtdplsv sparwaeeyl eqseeklwlg epegtatdrw ydeyhpeedl qhtasdfvak
      241 vddpklanse flkfvrqige gqvslesgag sgraqaeqwa aefiqqqgts dawvdqftrp
      301 vntsaldmef eraksaiesd vdfwdklqae leemakrdae ahpwlsdydd ltsatydkgy
      361 qfeeenplrd hpqpfeeglr rlqegdlpna vllfeaavqq dpkhmeawqy lgttqaeneq
      421 ellaisalrr clelkpdnqt almalavsft neslqrqace tlrdwlrytp ayahlvtpae
      481 egaggaglgp skrilgslls dslflevkel flaavrldpt sidpdvqcgl gvlfnlsgey
      541 dkavdcftaa lsvrpndyll wnklgatlan gnqseeavaa yrralelqpg yirsrynlgi
      601 scinlgahre avehflealn mqrksrgprg eggamseniw ntlrlalsml gqsdaygaad
      661 ardlstlltm fglpq
//
LOCUS       XP_054229472             684 aa            linear   PRI 20-MAR-2023
DEFINITION  coiled-coil domain-containing protein 62 isoform X1 [Homo sapiens].
ACCESSION   XP_054229472
VERSION     XP_054229472.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054373497.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060936) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..684
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..684
                     /product="coiled-coil domain-containing protein 62 isoform
                     X1"
                     /calculated_mol_wt=77617
     CDS             1..684
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /coded_by="XM_054373497.1:100..2154"
                     /db_xref="GeneID:84660"
                     /db_xref="HGNC:HGNC:30723"
                     /db_xref="MIM:613481"
ORIGIN      
        1 mnppaaflag rqnigsevei stiekqrkel qlligelkdr dkelndmvav hqqqllswee
       61 drqkvltlee rcsklegelh krteiirslt kkvkalesnq mecqtalqkt qlqlqemaqk
      121 athssllsed learnetlsn tlvelsaqvg qlqareqalt tmiklkdkdi ieavnhiadc
      181 sgkfkmleha lrdakmaetc ivkekqdykq klkalkievn klkedlnekt tenneqreei
      241 irlkqekscl hdellftver ekrkdellni akskqertns elhnlrqiyv kqqsdlqfln
      301 fnvensqeli qmydskmees kaldssrdmc lsdlennhpk vdikreknqk slfkdqkfea
      361 mlvqqnrsdk sscdeckekk qqidtvfgek svitlssift kdlvekhnlp wslggktqie
      421 penkitlcki htkspkchgt gvqnegkqps etptlsdekq whdvsvylgl tncpsskhpe
      481 kldvecqdqm erseisccqk neaclgesgm cdskcchpsn fiieapghms dvewmsifkp
      541 skmqrivrlk sgctcsesic gtqhdspase liaiqdshsl gssksalred etesssnkkn
      601 sptslliykd apafnekasi vlpsqddfsp tsklqrllae srqmvtdlel stllpishen
      661 ltgsatnkse vpeesaqknt fvsy
//
LOCUS       XP_054231418             441 aa            linear   PRI 20-MAR-2023
DEFINITION  probable sodium-coupled neutral amino acid transporter 6 isoform X2
            [Homo sapiens].
ACCESSION   XP_054231418
VERSION     XP_054231418.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054375443.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..441
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..441
                     /product="probable sodium-coupled neutral amino acid
                     transporter 6 isoform X2"
                     /calculated_mol_wt=48880
     CDS             1..441
                     /gene="SLC38A6"
                     /gene_synonym="NAT-1; SNAT6"
                     /coded_by="XM_054375443.1:34..1359"
                     /db_xref="GeneID:145389"
                     /db_xref="HGNC:HGNC:19863"
                     /db_xref="MIM:616518"
ORIGIN      
        1 measwgsfna ergwyvsvqq peeaeaeels pllsnelhrq rspgvsfgls vfnlmnaimg
       61 sgilglayvm antgvfgfsf llltvallas ysvhlllsmc iqtavtsyed lglfafglpg
      121 klvvagtiii qnigamssyl liiktelpaa iaefltgdys rywyldgqtl liiicvgivf
      181 plallpkigf lgytsslsff fmmffalvvi ikkwsipcpl tlnyvekgfq sayalptmaf
      241 sflchtsilp iycelqspsk krmqnvtnta ialsfliyfi salfgyltfy dkvesellkg
      301 yskylshdvv vmtvklcilf avlltvplih fparkavtmm ffsnfpfswi rhflitlaln
      361 iiivllaiyv pdirnvfgvv gaststclif ifpglfylkl sredflswkk lgvgvqwcdl
      421 sslqplppgl kqsshlslqs s
//
LOCUS       XP_054232439            2718 aa            linear   PRI 20-MAR-2023
DEFINITION  protein unc-79 homolog isoform X3 [Homo sapiens].
ACCESSION   XP_054232439
VERSION     XP_054232439.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376464.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2718
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2718
                     /product="protein unc-79 homolog isoform X3"
                     /calculated_mol_wt=304262
     CDS             1..2718
                     /gene="UNC79"
                     /gene_synonym="KIAA1409"
                     /coded_by="XM_054376464.1:3540..11696"
                     /db_xref="GeneID:57578"
                     /db_xref="HGNC:HGNC:19966"
                     /db_xref="MIM:616884"
ORIGIN      
        1 mdsvensvee etretliima pwdlqrgmtr tgsfttarsk vrsgmwtmlv tpvaskiryl
       61 qeyhnrvlhn iypvpsgtdi antlkyfsqt llsilsrtgk kenqdasnlt vpmtmclfpv
      121 pfpltpslrp qvssinptvt rsllysvlrd apsergpqsr daqlsdypsl dyqglyvtlv
      181 tlldlvpllq hgqhdlgqsi fytttcllpf lnddilstlp ytmistlatf ppflhkdiie
      241 ylstsflpma ilgssrregv pahvnlsass mlmiamqyts npvyhcqlle clmkykqevw
      301 kdllyviayg psqvkppavq mlfhywpnlk ppgaiseyrg lqytawnpih cqhiechnai
      361 nkpavkmcid pslsvalgdk ppplylceec seriagdhse wlidvllpqa eisaicqkkn
      421 csshvrravv tcfsagccgr hgnrpvryck rchsnhhsne vgaaaethly qtspppintr
      481 ecgaeelvca veavisllke aefhaeqreh elnrrrqlgl ssshhsldna dfdnkdddkh
      541 dqrllsqfgi wflvslctps entpteslar lvamvfqwfh staymmddev gslveklkpq
      601 fvtkwlktvc dvrfdvmvmc llpkpmefar vggywdkscs tvtqlkegln rilclipynv
      661 inqsvwecim pewleairte vpdnqlkefr evlskmfdie lcplpfsmee mfgfiscrft
      721 gypssvqeqa llwlhvlsel dimvplqlli smfsdgvnsv kelanqrksr vselagnlas
      781 rrvsvasdpg rrvqhnmlsp fhspfqspfr splrspfrsp fknfghpggr tidfdcedde
      841 mnlncfilmf dlllkqmelq ddgitmgleh slskdiisii nnvfqapwgg shtcqkdeka
      901 iecnlcqssi lcyqlacell erlapkeesr lveptdsled sllssrpefi igpegeeeen
      961 paskhgenpg nctepvehaa vkndterkfc yqqlpvtlrl iytifqemak feepdilfnm
     1021 lnclkilclh geclyiarkd hpqflayiqd hmliaslwrv vksefsqlss lavplllhal
     1081 slphgadifw tiingnfnsk dwkmrfeave kvavicrfld ihsvtknhll kyslahafcc
     1141 fltavedvnp avatraglll dtikrpalqg lclcldfqfd tvvkdrptil skllllhflk
     1201 qdipalswef fvnrfetlsl eaqlhldcnk efpfpttita vrtnvanlsd aalwkikrar
     1261 farnrqksvr slrdsvkgpv eskralslpe tltskipmrl trheqsapal ggtpeqtpgq
     1321 qspendntik dllpedagid hqtvhqlitv lmkfmakdes saesdissak afntvkrhly
     1381 vllgydqqeg cfmiapqkmr lstcfnafia giaqpprcsl wslkphirqm wlkallvily
     1441 kypyrdcdis killhlihit vntlnaqyhs ckphatagpl ysdnsnisry sekekeedsv
     1501 fdesdihdtp tgpcnkesqt ffarlkrigg skmvkyqpve mnvqrseiel aeyretgalq
     1561 dsllhcvree sipkkklrsf kqksldigna dsllftldeh rrkscidrcd iekpptqaay
     1621 iaqrpndpgr srqnsatrpd nseipenpam egfpdarrpv ipevrlncme tfevkvdspv
     1681 kpapkedldl idlssdstsg pekhsilsts dsdslvfepl pplrivesde eeetmnqgdd
     1741 gpsgknaass psvpshpsvl slstaplvqv svedcskdfs skdsgnnqsa gntdsalitl
     1801 edpmdaegss kpeelpefsc gspltlkqkr dllqksfalp emslddhpdp gtegekpgel
     1861 mpssgaktvl lkvpedaenp tesekpdtsa esdteqnper kveedgaees efkiqivprq
     1921 rkqrkiavsa iqreyldisf nildklgeqk dpdpstkgls tlempresss aptldagvpe
     1981 tsshssistq yrqmkrgslg vltmsqlmkr qlehqssaph nisnwdteqi qpgkrqcnvp
     2041 tclnpdlegq plrmrgatks sllsapsivs mfvpapeeft deqptvmtdk chdcgailee
     2101 ydeetlglai vvlstfihls pdlaapllld imqsvgrlas sttfsnqaes mmvpgnaagv
     2161 akqflrcifh qlapngifpq lfqstikdgt flrtlasslm dfnelssiaa lsqlleglnn
     2221 kknlpaggam ircleniatf mealpmdsps slwttisnqf qtffaklpcv lplkcsldss
     2281 lrimicllki pstnatrsll epfskllsfv iqnavftlay lvelcglcyr aftkerdkfy
     2341 lsrsvvlell qalklksplp dtnllllvqf icadagtkla estilskqmi asvpgcgtaa
     2401 mecvrqyine vldfmadmht ltklkshmkt csqplhedtf gghlkvglaq iaamdisrgn
     2461 hrdnkaviry lpwlyhppsa mqqgpkefie cvshirllsw lllgslthna vcpnasspcl
     2521 pipldagshv adhlivilig fpeqsktsvl hmcslfhafi faqlwtvyce qsavatnlqn
     2581 qnefsftail talefwsrvt psilqlmahn kvmvemvclh vislmealqe cnstifvkli
     2641 pmwlpmiqsn ikhlsaglql rlqaiqnhvn hhslrtlpgs gqssaglaal rkwlqctqfk
     2701 maqveiqsse aasqfypl
//
LOCUS       XP_054232909            1330 aa            linear   PRI 20-MAR-2023
DEFINITION  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X9
            [Homo sapiens].
ACCESSION   XP_054232909
VERSION     XP_054232909.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054376934.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060938) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1330
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1330
                     /product="capping protein, Arp2/3 and myosin-I linker
                     protein 3 isoform X9"
                     /calculated_mol_wt=145847
     CDS             1..1330
                     /gene="CARMIL3"
                     /gene_synonym="C14orf121; crml-1; LRRC16B"
                     /coded_by="XM_054376934.1:45..4037"
                     /db_xref="GeneID:90668"
                     /db_xref="HGNC:HGNC:20272"
                     /db_xref="MIM:614716"
ORIGIN      
        1 makpsveltr elqdsirrcl sqgavlqqhh vkletkpkkf edrvlaltsw rlhlfllkvp
       61 akvessfnvl eirafntlsq nqilveterg mvsmrlpsae svdqvtrhvs salskvcpgp
      121 gclirrgnad tpegprdtsp nsetststth svcggfsety aalcdynglh creevqwdvd
      181 tiyhaednre fnlldfshle srdlalmvaa laynqwftkl yckdlrlgse vleqvlhtls
      241 ksgsleelvl dnaglktdfv qklagvfgen gscvlhaltl shnpiedkgf lslsqqllcf
      301 psgltklcla ktaisprglq algqtfganp afasslryld lsknpgllat deanalysfl
      361 aqpnalvhld lsgtdcvidl llgallhgcc shltylnlar nscshrkgre appafkqffs
      421 saytlshvnl satklpleal rallqglsln shlsdlhldl sscelrsaga qalqeqlgav
      481 tcvgsldlsd ngfdsdlltl vpalgknksl khlflgknfn vkaktleeil hklvqliqee
      541 dcslqslsva dsrlklrtsi linalgsntc lakvdlsgng medigakmls kalqinsslr
      601 tilwdrnnts algfldiara lesnhtlrfm sfpvsdisqa yrsaperted vwqkiqwclv
      661 rnnhsqtcpq eqafrlqqgl vtssaeqmlq rlcgrvqeev ralrlcplep vqdellyard
      721 likdaknsra lfpslyelgh vlandgpvrq rlesvasevs kavdkelqvi lesmvsltqe
      781 lcpvamrvae ghnkmlsnva ervtvprnfi rgalleqagq diqnkldevk lsvvtyltss
      841 ivdeilqely hshkslarhl tqlrtlsdpp gcpgqgqdls srgrgrnhdh eettddelgt
      901 nidtmaikkq krcrkirpvs afisgspqdm esqlgnlgip pgwfsglggs qptasgsweg
      961 lselpthgyk lrhqtqgrpr pprttppgpg rpsmpapgtr qengmatrld egledffsrr
     1021 vleesssypr tlrtvrpgls eaplpplqkk rrrglfhfrr pwsfkgdrgp gspttglllp
     1081 ppppppptqe sppspdppsl gnnsspcwsp eeessllpgf gggrgpsfrr kmgpgpdqeg
     1141 stqawqkrrs sddagpgswk pppppqstkp sfsamrraea twhiaeesap nhscqspspa
     1201 sqdgeeekeg tlfpertlpa rnaklqdpal apwppkpvav prgrqppqep gvreeaeagd
     1261 aapgvnkprl rlssqqdqee pevqgppdpg rrtaplkpkr trraqscdkl epdrrrppdp
     1321 tagtsepgtd
//
LOCUS       XP_054235571             540 aa            linear   PRI 20-MAR-2023
DEFINITION  chromodomain Y-like protein 2 isoform X1 [Homo sapiens].
ACCESSION   XP_054235571
VERSION     XP_054235571.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054379596.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060940) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..540
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..540
                     /product="chromodomain Y-like protein 2 isoform X1"
                     /calculated_mol_wt=60070
     CDS             1..540
                     /gene="CDYL2"
                     /gene_synonym="PCCP1"
                     /coded_by="XM_054379596.1:10..1632"
                     /db_xref="GeneID:124359"
                     /db_xref="HGNC:HGNC:23030"
                     /db_xref="MIM:618816"
ORIGIN      
        1 mghfilppcg lhilqpsleg gaaqprgars prrrplpsrv eeverivdkr knkkgkweyl
       61 irwkgygste dtwepehhll hceefidefn glhmskdkri ksgkqsstsk llrdsrgpsv
      121 eklshrpsdp gkskgtshkr krinpplakp kkgysgkpss ggdratktvs yrttpsglqi
      181 mplkksqngm engdagsekd erhfgngshq pgldlndhvg eqdmgecdvn hatlaenglg
      241 saltngglnl hspvkrklea ekdyvfdkrl rysvrqnesn crfrdivvrk eegfthills
      301 sqtsdnnalt peimkevrra lcnaatddsk llllsavgsv fcsgldysyl igrlssdrrk
      361 estriaeair dfvkafiqfk kpivvaingp alglgasilp lcdivwasek awfqtpyati
      421 rltpagcssy tfpqilgval anemlfcgrk ltaqeacsrg lvsqvfwptt fsqevmlrvk
      481 emascsavvl eeskclvrsf lksvledvne keclmlkqlw ssskgldslf sylqdkiyev
//
LOCUS       XP_054170662             215 aa            linear   PRI 20-MAR-2023
DEFINITION  phosphatidylethanolamine N-methyltransferase isoform X4 [Homo
            sapiens].
ACCESSION   XP_054170662
VERSION     XP_054170662.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054314687.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..215
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..215
                     /product="phosphatidylethanolamine N-methyltransferase
                     isoform X4"
                     /calculated_mol_wt=23787
     CDS             1..215
                     /gene="PEMT"
                     /gene_synonym="PEAMT; PEMPT; PEMT2; PLMT; PNMT"
                     /coded_by="XM_054314687.1:29..676"
                     /db_xref="GeneID:10400"
                     /db_xref="HGNC:HGNC:8830"
                     /db_xref="MIM:602391"
ORIGIN      
        1 mfpglpvcsq radfcvmtrl lgyvdpldps fvaavititf nplywnvvar wehktrklsr
       61 afgspylacy slsvtillln flrshcftqa mlsqprmesl dtpaayslgl allglgvvlv
      121 lssffalgfa gtflgdyfgi lkearvtvfp fnildnpmyw gstanylgwa imhasptgll
      181 ltvlvaltyi mallyeepft aeiyrqkasg shkrs
//
LOCUS       XP_054173159             229 aa            linear   PRI 20-MAR-2023
DEFINITION  dehydrogenase/reductase SDR family member 11 isoform X1 [Homo
            sapiens].
ACCESSION   XP_054173159
VERSION     XP_054173159.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054317184.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060941) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..229
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..229
                     /product="dehydrogenase/reductase SDR family member 11
                     isoform X1"
                     /calculated_mol_wt=24712
     CDS             1..229
                     /gene="DHRS11"
                     /gene_synonym="ARPG836; SDR24C1; spDHRS11"
                     /coded_by="XM_054317184.1:132..821"
                     /db_xref="GeneID:79154"
                     /db_xref="HGNC:HGNC:28639"
                     /db_xref="MIM:616159"
ORIGIN      
        1 marpgmerwr drlalvtgas ggigaavara lvqqglkvvg cartvgniee laaecksagy
       61 pgtlipyrcd lsneedilsm fsairsqhsg vdicinnagl arpdtllsgs tsgwkdmfnv
      121 nvlalsictr eayqsmkern vddghiinin smsghrvlpl svthfysatk yavtaltegl
      181 rqelreaqth iratclkped vaeaviyvls tpahiqigdi qmrpteqvt
//
LOCUS       XP_054177991             292 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein OZF isoform X1 [Homo sapiens].
ACCESSION   XP_054177991
VERSION     XP_054177991.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322016.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..292
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..292
                     /product="zinc finger protein OZF isoform X1"
                     /calculated_mol_wt=33177
     CDS             1..292
                     /gene="ZNF146"
                     /gene_synonym="OZF"
                     /coded_by="XM_054322016.1:941..1819"
                     /db_xref="GeneID:7705"
                     /db_xref="HGNC:HGNC:12931"
                     /db_xref="MIM:601505"
ORIGIN      
        1 mshlsqqriy sgenpfackv cgkvfshksn ltehehfhtr ekpfecnecg kafsqkqyvi
       61 khqnthtgek lfecnecgks fsqkenllth qkihtgekpf eckdcgkafi qksnlirhqr
      121 thtgekpfvc kecgktfsgk snltehekih igekpfkcse cgtafgqkky likhqnihtg
      181 ekpyecnecg kafsqrtsli vhvrihsgdk pyecnvcgka fsqsssltvh vrshtgekpy
      241 gcnecgkafs qfstlalhlr ihtgkkpyqc secgkafsqk shhirhqkih th
//
LOCUS       XP_054178512             782 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 160 isoform X3 [Homo sapiens].
ACCESSION   XP_054178512
VERSION     XP_054178512.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322537.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..782
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..782
                     /product="zinc finger protein 160 isoform X3"
                     /calculated_mol_wt=89716
     CDS             1..782
                     /gene="ZNF160"
                     /gene_synonym="F11; HKr18; HZF5; KR18"
                     /coded_by="XM_054322537.1:1343..3691"
                     /db_xref="GeneID:90338"
                     /db_xref="HGNC:HGNC:12948"
                     /db_xref="MIM:600398"
ORIGIN      
        1 mlenywnlvs lglchfdmni ismleegkep wtvkscvkia rkprtrecvk gvvtdippkc
       61 tikdllpkek ssteavfhtv vlerhespdi edfsfkepqk nvhdfecqwr ddtgnykgvl
      121 maqkegkrdq rdrrdienkl mnnqlgvsfh shlpelqlfq gegkmyecnq vekstnngss
      181 vsplqqipss vqthrskkyh elnhfslltq rrkanscgkp ykcnecgkaf tqnsnltshr
      241 rihsgekpyk csecgktftv rsnltihqvi htgekpykch ecgkvfrhns ylathrriht
      301 gekpykcnec gkafrghsnl tthqlihtge kpfkcnecgk lftqnshlis hwrihtgekp
      361 ykcnecgkaf svrsslaihq tihtgekpyk cnecgkvfry nsylgrhrrv htgekpykcn
      421 ecgkafsmhs nlathqviht gtkpfkcnec skvftqnsql anhrrihtge kpykcnecgk
      481 afsvrssltt hqaihsgekp ykciecgksf tqkshlrshr gihsgekpyk cnecgkvfaq
      541 tsqlarhwrv htgekpykcn dcgrafsdrs sltfhqaiht gekpykchec gkvfrhnsyl
      601 athrrihtge kpykcnecgk afsmhsnltt hkvihtgekp ykcnqcgkvf tqnshlanhq
      661 rthtgekpyr cnecgkafsv rssltthqai htgkkpykcn ecgkvftqna hlanhrriht
      721 gekpyrctec gkafrvrssl tthmaihtge krykcnecgk vfrqssnlas hhrmhtgekp
      781 yk
//
LOCUS       XP_054178546             638 aa            linear   PRI 20-MAR-2023
DEFINITION  membralin isoform X4 [Homo sapiens].
ACCESSION   XP_054178546
VERSION     XP_054178546.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054322571.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060943) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..638
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..638
                     /product="membralin isoform X4"
                     /calculated_mol_wt=69481
     CDS             1..638
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN;
                     R32184_3"
                     /coded_by="XM_054322571.1:128..2044"
                     /db_xref="GeneID:91304"
                     /db_xref="HGNC:HGNC:17039"
                     /db_xref="MIM:611011"
ORIGIN      
        1 msehvepaap gpgpnggggg papargprtp nlnpnplinv rdrlfhalff kmavtysrlf
       61 ppafrrlfef fvllkalfvl fvlayihivf srspincleh vrdkwpregi lrvevrhnss
      121 rapvflqfcd sggrgsfpgl avepgsnldm edeeeeeltm emfgnssikf eldiepkvfk
      181 ppsstealnd sqefpfpetp tkvwpqdeyi veysleygfl rlsqatrqrl sipvmvvtld
      241 ptrdqcfgdr fsrllldefl gyddilmssv kglaeneenk gflrnvvsge hyrfvsmwma
      301 rtsylaafai mviftlsvsm llryshhqif vfiaplltvi lalvgmeaim seffndttta
      361 fyiilivwla dqydaiccht stskrhwlrf fylyhfafya yhyrfngqys slalvtswlf
      421 iqvrpgrqag grpavpfqag eaaagedalw grpkraehsm iyffhhyelp ailqqvriqe
      481 mllqapplgp gtptalpddm nnnsgapata pdsagqppal gpvspgasgs pgpvaaapss
      541 lvaaaasvaa aaggdlgwma etaaiitdas flsglsasll errpasplgp agglphapqd
      601 svppsdsaas dttplgaavg gpspasmapt eapsevgs
//
LOCUS       XP_054197984            1706 aa            linear   PRI 20-MAR-2023
DEFINITION  lactase/phlorizin hydrolase isoform X1 [Homo sapiens].
ACCESSION   XP_054197984
VERSION     XP_054197984.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054342009.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1706
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1706
                     /product="lactase/phlorizin hydrolase isoform X1"
                     /calculated_mol_wt=193445
     CDS             1..1706
                     /gene="LCT"
                     /gene_synonym="LAC; LPH; LPH1"
                     /coded_by="XM_054342009.1:16..5136"
                     /db_xref="GeneID:3938"
                     /db_xref="HGNC:HGNC:6530"
                     /db_xref="MIM:603202"
ORIGIN      
        1 melswhvvfi allsfscwgs dwesdrnfis tagpltndll hnlsgllgdq ssnfvagdkd
       61 myvchqplpt flpeyfsslh asqithykvf lswaqllpag stqnpdektv qcyrrllkal
      121 ktarlqpmvi lhhqtlpast lrrteafadl fadyatfafh sfgdlvgiwf tfsdleevik
      181 elphqesras qlqtlsdahr kayeiyhesy afqggklsvv lraedipell leppisalaq
      241 dtvdflsldl syecqneasl rqklsklqti epkvkvfifn lklpdcpstm knpasllfsl
      301 feainkdqvl tigfdinefl scsssskksm scsltgslal qpdqqqdhet tdsspasayq
      361 rvweafanqs raerdaflqd tfpegflwga stgafnvegg waeggrgvsi wdprrplntt
      421 egqatlevas dsyhkvasdv allcglraqv ykfsiswsri fpmghgssps lpgvayynkl
      481 idrlqdagie pmatlfhwdl pqalqdhggw qnesvvdafl dyaafcfstf gdrvklwvtf
      541 hepwvmsyag ygtgqhppgi sdpgvasfkv ahlvlkahar twhhynshhr pqqqghvgiv
      601 lnsdwaepls perpedlras erflhfmlgw fahpvfvdgd ypatlrtqiq qmnrqcshpv
      661 aqlpefteae kqllkgsadf lglshytsrl isnapqntci psydtiggfs qhvnhvwpqt
      721 ssswirvvpw girrllqfvs leytrgkvpi ylagngmpig esenlfddsl rvdyfnqyin
      781 evlkaikeds vdvrsyiars lidgfegpsg ysqrfglhhv nfsdssksrt prksayffts
      841 iiekngfltk gakrllppnt vnlpskvraf tfpsevpska kvvwekfssq pkferdlfyh
      901 gtfrddflwg vsssayqieg awdadgkgps iwdnfthtpg snvkdnatgd iacdsyhqld
      961 adlnmlralk vkayrfsisw srifptgrns sinshgvdyy nrlinglvas nifpmvtlfh
     1021 wdlpqalqdi ggwenpalid lfdsyadfcf qtfgdrvkfw mtfnepmyla wlgygsgefp
     1081 pgvkdpgwap yriahavika harvyhtyde kyrqeqkgvi slslsthwae pkspgvprdv
     1141 eaadrmlqfs lgwfahpifr ngdypdtmkw kvgnrselqh latsrlpsft eeekrfirat
     1201 advfclntyy srivqhktpr lnppsyeddq emaeeedpsw pstamnraap wgtrrllnwi
     1261 keeygdipiy itengvgltn pntedtdrif yhktyineal kayrldgidl rgyvawslmd
     1321 nfewlngytv kfglyhvdfn ntnrprtara saryytevit nngmplared eflygrfpeg
     1381 fiwsaasaay qiegawradg kglsiwdtfs htplrvenda igdvacdsyh kiaedlvtlq
     1441 nlgvshyrfs iswsrilpdg ttryineagl nyyvrlidtl laasiqpqvt iyhwdlpqtl
     1501 qdvggwenet ivqrfkeyad vlfqrlgdkv kfwitlnepf viayqgygyg taapgvsnrp
     1561 gtapyivghn likahaeawh lyndvyrasq ggvisitiss dwaeprdpsn qedveaarry
     1621 vqfmggwfah pifkngdyne vmktrirdrs laaglnksrl peftesekrr ingtydffgf
     1681 nhyttvlayn lnyataissf dadras
//
LOCUS       XP_054199184            1342 aa            linear   PRI 20-MAR-2023
DEFINITION  alsin isoform X3 [Homo sapiens].
ACCESSION   XP_054199184
VERSION     XP_054199184.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054343209.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1342
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1342
                     /product="alsin isoform X3"
                     /calculated_mol_wt=147635
     CDS             1..1342
                     /gene="ALS2"
                     /gene_synonym="ALS2CR6; ALSJ; IAHSP; PLSJ"
                     /coded_by="XM_054343209.1:364..4392"
                     /db_xref="GeneID:57679"
                     /db_xref="HGNC:HGNC:443"
                     /db_xref="MIM:606352"
ORIGIN      
        1 mdskkrsste aegskerglv hiwqagsfpi tperlpgwgg ktvlqaalgv khgvlltedg
       61 evysfgtlpw rsgpveicps spilenalvg qyvitvatgs fhsgavtdng vaymwgensa
      121 gqcavanqqy vpepnpvsia dseaspllav rilqlacgee htlalsisre iwawgtgcql
      181 glittafpvt kpqkvehlag rvvlqvacga fhslalvqcl psqdlkpvpe rcnqcsqlli
      241 tmtdkedhvi isdshccplg vtltesqaen hastalspst etldrqeevf entlvandqs
      301 vatelnavsa qitssdamss qqnvmgttei ssarnipsyp dtqavneylr klsdhsvred
      361 sehgekpmps qplleeaipn lhsppttsts alnslvvsca savgvrvaat yeagalslkk
      421 vmnfysttpc etgaqagssa igpeglkdsr eeqvkqesmq gkkssslvdi reeeteggsr
      481 rlslpgllsq vsprllrkaa rvktrtvvlt ptysgeadal lpslrtevwt wgkgkegqlg
      541 hgdvlprlqp lcvkcldgke vihleaggyh slaltaksqv yswgsntfgq lghsdfpttv
      601 prlakissen gvwsiaagrd yslflvdted fqpglyysgr qdptegdnlp enhsgsktpv
      661 llscsklgyi srvtagkdsy lalvdknimg yiaslhelat terrfyskls diksqilrpl
      721 lslenlgttt tvqllqevas rfsklcylig qhgaslssfl hgvkearslv ilkhsslfld
      781 syteyctsit nflvmggfql lakpaidfln knqellqdls evndentqlm eilntlfflp
      841 irrlhnyakv llklatcfev aspeyqklqd ssscyeclal hlgrkrkeae ytlgfwktfp
      901 gkmtdslrkp errllcessn ralslqhagr fsvnwfilfn dalvhaqfst hhvfplatlw
      961 aeplseeagg vnglkittpe eqftlisstp qektkwlrai sqavdqalrg msdlppygsg
     1021 ssvqrqeppi srsakytfyk dprlkdatyd grwlsgkphg rgvlkwpdgk mysgmfrngl
     1081 edgygeyrip nkamnkedhy vghwkegkmc gqgvysyasg evfegcfqdn mrhghgllrs
     1141 gkltssspsm figqwvmdkk agygvfddit rgekymgmwq ddvcqgngvv vtqfglyyeg
     1201 nfhlnkmmgn gvllseddti yegefsddwt lsgkgtltmp ngdyiegyfs gewgsgikit
     1261 gtyfkpslye sdkdrpkvfr klgnlavpad ekwkavfdec wrqlgcegpg qgevwkawdn
     1321 iavalttsrr qhrdslqdll wq
//
LOCUS       XP_054200533             372 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase 17B isoform X1 [Homo sapiens].
ACCESSION   XP_054200533
VERSION     XP_054200533.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344558.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..372
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..372
                     /product="serine/threonine-protein kinase 17B isoform X1"
                     /calculated_mol_wt=42213
     CDS             1..372
                     /gene="STK17B"
                     /gene_synonym="DRAK2"
                     /coded_by="XM_054344558.1:443..1561"
                     /db_xref="GeneID:9262"
                     /db_xref="HGNC:HGNC:11396"
                     /db_xref="MIM:604727"
ORIGIN      
        1 msrrrfdcrs isglltttpq ipikmenfnn fyiltskelg rgkfavvrqc iskstgqeya
       61 akflkkrrrg qdcraeilhe iavlelaksc prvinlhevy entseiilil eyaaggeifs
      121 lclpelaemv sendvirlik qilegvyylh qnnivhldlk pqnillssiy plgdikivdf
      181 gmsrkighac elreimgtpe ylapeilnyd pittatdmwn igiiaymllt htspfvgedn
      241 qetylnisqv nvdyseetfs svsqlatdfi qsllvknpek rptaeiclsh swlqqwdfen
      301 lfhpeetsss sqtqdhsvrs sedktskssc ngtcgdredk enipedssmv skrfrfddsl
      361 pnphelvsdl lc
//
LOCUS       XP_054200612             888 aa            linear   PRI 20-MAR-2023
DEFINITION  eukaryotic translation initiation factor 2-alpha kinase 3 isoform
            X2 [Homo sapiens].
ACCESSION   XP_054200612
VERSION     XP_054200612.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054344637.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060926) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..888
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..888
                     /product="eukaryotic translation initiation factor 2-alpha
                     kinase 3 isoform X2"
                     /calculated_mol_wt=101240
     CDS             1..888
                     /gene="EIF2AK3"
                     /gene_synonym="PEK; PERK; WRS"
                     /coded_by="XM_054344637.1:198..2864"
                     /db_xref="GeneID:9451"
                     /db_xref="HGNC:HGNC:3255"
                     /db_xref="MIM:604032"
ORIGIN      
        1 meqeedilll qrtqktvrav gprsgnekwn fsvghfelry ipdmetragf iestfkpnen
       61 teeskiisdv eeqeaaimdi vikvsvadwk vmafskkggh leweyqfctp iasawllkdg
      121 kvipislfdd tsytsnddvl edeediveaa rgatensvyl gmyrgqlylq ssvrisekfp
      181 sspkalesvt nenaiiplpt ikwkplihsp srtpvlvgsd efdkclsndk fsheeysnga
      241 lsilqypydn gyylpyykre rnkrstqitv rfldnphynk nirkkdpvll lhwwkeivat
      301 ilfciiattf ivrrlfhphp hrqrkesetq cqtenkydsv sgeandsswn diknsgyisr
      361 yltdfepiqc lgrggfgvvf eaknkvddcn yaikrirlpn relarekvmr evkalakleh
      421 pgivryfnaw leappekwqe kmdeiwlkde stdwplssps pmdapsvkir rmdpfatkeh
      481 ieiiapspqr srsfsvgisc dqtsssesqf splefsgmdh edisesvdaa ynlqdscltd
      541 cdvedgtmdg ndeghsfelc pseaspyvrs rertsssivf edsgcdnass keepktnrlh
      601 ignhcanklt afkptsskss seatlsispp rpttlsldlt kntteklqps spkvylyiqm
      661 qlcrkenlkd wmngrctiee rersvclhif lqiaeavefl hskglmhrdl kpsnifftmd
      721 dvvkvgdfgl vtamdqdeee qtvltpmpay arhtgqvgtk lymspeqihg nsyshkvdif
      781 slglilfell ypfstqmerv rtltdvrnlk fpplftqkyp ceyvmvqdml spspmerpea
      841 iniienavfe dldfpgktvl rqrsrslsss gtkhsrqsnn shsplpsn
//
LOCUS       XP_054181256             615 aa            linear   PRI 20-MAR-2023
DEFINITION  hypermethylated in cancer 2 protein isoform X1 [Homo sapiens].
ACCESSION   XP_054181256
VERSION     XP_054181256.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054325281.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060946) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..615
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..615
                     /product="hypermethylated in cancer 2 protein isoform X1"
                     /calculated_mol_wt=66041
     CDS             1..615
                     /gene="HIC2"
                     /gene_synonym="HRG22; ZBTB30; ZNF907"
                     /coded_by="XM_054325281.1:467..2314"
                     /db_xref="GeneID:23119"
                     /db_xref="HGNC:HGNC:18595"
                     /db_xref="MIM:607712"
ORIGIN      
        1 mvsgplalrw cawagrgdmg pdmelpshsk qlllqlnqqr tkgflcdvii mvensifrah
       61 knvlaassiy fkslvlhdnl inldtdmvss tvfqqildfi ytgkllpsdq paepnfstll
      121 taasylqlpe laalcrrklk ragkpfgsgr agstgmgrpp rsqrlstasv iqaryqglvd
      181 grkgahapqe lpqakgsdde lflggsnqds vqglgravcp aggeaglggc ssstngssgg
      241 ceqelgldls kkspplppat pgphltpdda aqlsdsqhgs ppaasappva nsasyselgg
      301 tpdepmdleg aednhlslle apggqprksl rhstrkkewg kkepvagspf erreagpkgp
      361 clgeegegvg drvpngilas gagpsgpyge ppypckeeee ngkdasedsa qsgseggsgh
      421 asahymyrqe gyetvsygdn lyvcipcakg fpsseqlnah vethteeelf ikeegayetg
      481 sggaeeeaed lsapsaayta eprpfkcsvc ektykdpatl rqhekthwlt rpfpcnicgk
      541 mftqrgtmtr hmrshlglkp facdecgmrf trqyrltehm rvhsgekpye cqlcggkftq
      601 qrnlishlrm htsps
//
LOCUS       XP_054201813            2724 aa            linear   PRI 20-MAR-2023
DEFINITION  neurobeachin-like protein 2 isoform X3 [Homo sapiens].
ACCESSION   XP_054201813
VERSION     XP_054201813.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054345838.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2724
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..2724
                     /product="neurobeachin-like protein 2 isoform X3"
                     /calculated_mol_wt=299272
     CDS             1..2724
                     /gene="NBEAL2"
                     /gene_synonym="BDPLT4; GPS"
                     /coded_by="XM_054345838.1:197..8371"
                     /db_xref="GeneID:23218"
                     /db_xref="HGNC:HGNC:31928"
                     /db_xref="MIM:614169"
ORIGIN      
        1 maaserlyel wllyyaqkdl gylqqwlkaf vgafkksisl ssleprrpee agaevpllpl
       61 delhvlaeql hqadleqall llklfiilcr nlenieagrg qvlvprvlal ltklvaelkg
      121 cpppqgrgtq lenvalhall lceglfdpyq twrrqrsgev isskekskyk fppaalpqef
      181 saffqeslqn adhlppilll rlihlfcavl aggkengqma vsdgsvkgll svvrgwsrgp
      241 apdpclvpla lealvgavhv lhasrapprg pelrallesy fhvlnadwpa glssgpeeal
      301 vtlrvsmlda ipmmlacedr pvlqatflsn ncfehltrli qnsklylqsr appegdsdla
      361 trlltepdvq kvldqdtdai avhvvrvltc imsdspsake vfkerigyph lqevlqshgp
      421 pthrllqell nmavegdhsm cppppirneq pvlvlaqwlp slptaelrlf laqrlrwlcd
      481 scpasratcv qaglvgclle tlstglalea rcqeqllall qalgrvsirp melrhllrpr
      541 pgldsepgga eagkarhaga virtlsgmar hqgparalry fdltpsmagi mvppvqrwpg
      601 pgftfhawlc lhpmdtaptp aptrplqrkq lysfftssgs gfeafftaag tlvvavctrk
      661 eyltmslpev sfadsawhcv aivhvpgrrp fsqnlvhvyk dghlvktapl rcpslsepfs
      721 sccigsagyr ttttttglpt ppvpatlayt hpaltrsqsv pastglgwgs glvaplqegs
      781 idstlagtqd trwgsptsle gelgavaifh ealqatalrt lctlgpneta pfkpegelhe
      841 lstrlllhys pqacknnicl dlspshgldg rltghrvetw dvkdvvncvg gmgallplle
      901 rvaaqpkeae agpaethdlv gpeltsghnt qglvlplgks seermernav aafllmlrnf
      961 lqghmvnqes lvqcqgpaii gallrkvpsw amdmnvlmsa qllmeqvaae gsgpllylly
     1021 qhllfnfhlw tlsdfavrlg hiqymssivr ehrqklrkky gvqfildalr thyspqrerp
     1081 laaddlrtvq tsllglaref lvrslsaddv qvtqtmlsfl aatgddgqav galdlllall
     1141 hgslvqesla vfllepgnle vllallvrpg slpllpdrvc kilrrlqqne rlpersrqrl
     1201 rlrecglqgl vaclpegtvs pqlcqglykl flgadclnls dllavvqlsl qadlsvrldi
     1261 crqlfhliyg qpdvvrllar qagwqdvltr lyvleaatag spppsspesp tspkpappkp
     1321 ptespaepsd vflpseapcp dpdgfyhals pfctpfdlgl erssvgsgnt aggggssgtl
     1381 tpasqpgtps pldgprpfpa apgrhsssls nvledgslpe ptisgddtsn tsnpqqtsee
     1441 elcnlltnvl fsvtwrgveg sdeaawrerg qvfsvltqlg asatlvrppd cikrsllemm
     1501 lesaltdike apvgvlaslt qqalwllrll qdflcaeghg nqelwseklf egvcslldrl
     1561 gawphlangt adlremaqig lrlvlgyill edpqlhaqay vrlhmllqta vparreeacy
     1621 vlskleaalg rvlntssles atdeagspla aaaaaaaaer cswlvplvrt lldrayeplg
     1681 lqwglpslpp tngsptffed fqafcatpew rhfidkqvqp tmsqfemdty akshdlmsgf
     1741 wnacydmlms sgqrrqwera qsrrafqelv lepaqrrarl eglrytavlk qqatqhsmal
     1801 lhwgalwrql aspcgawalr dtpiprwkls saetysrmrl klvpnhhfdp hleasalrdn
     1861 lgevpltpte easlplavtk eakvstppel lqedqlgede laeletpmea aeldeqrekl
     1921 vlsaecqlvt vvavvpglle vttqnvyfyd gstervetee gigydfrrpl aqlrevhlrr
     1981 fnlrrsalel ffidqanyfl nfpckvgttp vsspsqtprp qpgpipphtq vrnqvyswll
     2041 rlrppsqgyl ssrfpqemlr asgltqkwvq reisnfeylm qlntiagrty ndlsqypvfp
     2101 wvlqdyvspt ldlsnpavfr dlskpigvvn pkhaqlvrek yesfedpagt idkfhygthy
     2161 snaagvmhyl irvepftslh vqlqsgrfdc sdrqfhsvaa awqarlespa dvkelipeff
     2221 yfpdflenqn gfdlgclqlt nekvgdvvlp pwasspedfi qqhrqalese yvsahlhewi
     2281 dlifgykqrg paaeealnvf yyctyegavd ldhvtderer kalegiisnf gqtpcqllke
     2341 phptrlsaee aahrlarldt nspsifqhld elkaffaevt vsasgllgth swlpydrnis
     2401 nyfsfskdpt mgshktqrll sgpwvpgsgv sgqalavapd gkllfsgghw dgslrvtalp
     2461 rgkllsqlsc hldvvtclal dtcgiylisg srdttcmvwr llhqgglsvg lapkpvqvly
     2521 ghgaavscva isteldmavs gsedgtviih tvrrgqfvaa lrplgatfpg pifhlalgse
     2581 gqivvqssaw erpgaqvtys lhlysvngkl raslplaeqp taltvtedfv llgtaqcalh
     2641 ilqlntllpa applpmkvai rsvavtkers hvlvgledgk livvvagqps evrssqfark
     2701 lwrssrrisq vssgeteynp tear
//
LOCUS       XP_054202897            1136 aa            linear   PRI 20-MAR-2023
DEFINITION  semaphorin-5B isoform X6 [Homo sapiens].
ACCESSION   XP_054202897
VERSION     XP_054202897.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054346922.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1136
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1136
                     /product="semaphorin-5B isoform X6"
                     /calculated_mol_wt=124280
     CDS             1..1136
                     /gene="SEMA5B"
                     /gene_synonym="SEMAG; SemG"
                     /coded_by="XM_054346922.1:339..3749"
                     /db_xref="GeneID:54437"
                     /db_xref="HGNC:HGNC:10737"
                     /db_xref="MIM:609298"
ORIGIN      
        1 mpcgfspspv ahhlvpgppd tpaqqlrcgw tvggwllslv rgllpclppg artaegpimv
       61 lagplavsll lpsltllvsh lsssqdvsse psseqqlcal skhptvafed lqpwvsnfty
      121 pgardfsqla ldpsgnqliv garnylfrls lanvsllqat ewassedtrr scqskgktee
      181 ecqnyvrvli vagrkvfmcg tnafspmcts rqvgnlsrti ekingvarcp ydprhnstav
      241 issqgelyaa tvidfsgrdp aiyrslgsgp plrtaqynsk wlnepnfvaa ydiglfayff
      301 lrenavehdc grtvysrvar vckndvggrf lledtwttfm karlncsrpg evpfyynelq
      361 safhlpeqdl iygvfttnvn siaasavcaf nlsaisqafn gpfryqenpr aawlpianpi
      421 pnfqcgtlpe tgpnenlter slqdaqrlfl mseavqpvtp epcvtqdsvr fshlvvdlvq
      481 akdtlyhvly igtesgtilk alstasrslh gcyleelhvl ppgrreplrs lrilhsaral
      541 fvglrdgvlr vplercaayr sqgaclgard pycgwdgkqq rcstledssn mslwtqnita
      601 cpvrnvtrdg gfgpwspwqp cehldgdnsg sclcrarscd sprprcggld clgpaihian
      661 csrngawtpw sswalcstsc gigfqvrqrs csnpaprhgg ricvgksree rfcnentpcp
      721 vpifwaswgs wskcssncgg gmqsrrrace ngnsclgcgv efktcnpegc pevrrntpwt
      781 pwlpvnvtqg garqeqrfrf tcrapladph glqfgrrrte trtcpadgsg scdtdalved
      841 llrsgstsph tvsggwaawg pwsscsrdce lgfrvrkrtc tnpeprnggl pcvgdaaeyq
      901 dcnpqacpvr gawscwtsws pcsascgggh yqrtrsctsp apspgedicl glhteealca
      961 tqacpegwsp wsewskctdd gaqsrsrhce ellpgssaca gnssqsrpcp yseipgfnli
     1021 hlvatgiscf lgsglltlav ylscqhcqrq sqestlvhpa tpnhlhykgg gtpknekytp
     1081 mefktlnknn lipddranfy plqqtnvytt tyypsplnkh sfrpeaspgq rcfpns
//
LOCUS       XP_054203470             340 aa            linear   PRI 20-MAR-2023
DEFINITION  protein SEC13 homolog isoform X3 [Homo sapiens].
ACCESSION   XP_054203470
VERSION     XP_054203470.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054347495.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060927) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..340
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..340
                     /product="protein SEC13 homolog isoform X3"
                     /calculated_mol_wt=37414
     CDS             1..340
                     /gene="SEC13"
                     /gene_synonym="D3S1231E; npp-20; SEC13L1; SEC13R"
                     /coded_by="XM_054347495.1:155..1177"
                     /db_xref="GeneID:6396"
                     /db_xref="HGNC:HGNC:10697"
                     /db_xref="MIM:600152"
ORIGIN      
        1 mrepvltwac agkdemgkmv svintvdtsh edmihdaqmd yygtrlatcs sdrsvkifdv
       61 rnggqiliad lrghegpvwq vawahpmygn ilascsydrk viiwreengt wekshehagh
      121 dssvnsvcwa phdyglilac gssdgaisll tytgegqwev kkinnahtig cnavswapav
      181 vpgslidhps gqkpnyikrf asggcdnlik lwkeeedgqw keeqkleahs dwvrdvawap
      241 siglptstia scsqdgrvfi wtcddassnt wspkllhkfn dvvwhvswsi tanilavsgg
      301 dnkvtlwkes vdgqwvcisd vnkgqgsvsa svtegqqneq
//
LOCUS       XP_054207341             457 aa            linear   PRI 20-MAR-2023
DEFINITION  uncharacterized protein LOC124900172 [Homo sapiens].
ACCESSION   XP_054207341
VERSION     XP_054207341.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054351366.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060928) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 31% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..457
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..457
                     /product="uncharacterized protein LOC124900172"
                     /calculated_mol_wt=47283
     CDS             1..457
                     /gene="LOC124900172"
                     /coded_by="XM_054351366.1:1..1374"
                     /db_xref="GeneID:124900172"
ORIGIN      
        1 mgavalwvlc glvgavalwv lcglyildsp vsgsgqepcw edtecenwas vlgpcghcec
       61 enwvsvlgpc ghcecenwvs vlgpcghcel taldvlsphe dadvallpey akhegpggtq
      121 hlcaagegdr grsaraslqr eleaapgsgv agvrsvlgvs elggeegich teasethpft
      181 sglcprrvht qsspvragst lshrpsapgp hsrhrpsapg phsviavrag stlasspvca
      241 gstlasspvc agstlasspt hagstlatsp stpgphsrhr hprrvhtrdi aihagstlat
      301 spstpgphsr hrhprrvhtr viaihagstl atsparagst lshrpsvpgp hsrhrhprrv
      361 hthviaihag stlassptra gstlasspsv pgphsviavr agstlghrhp rgdvsekcge
      421 scvpcaflka psrcscrepw shvtlrstge rrvhfgg
//
LOCUS       XP_054209533             667 aa            linear   PRI 20-MAR-2023
DEFINITION  RUN and FYVE domain-containing protein 1 isoform X12 [Homo
            sapiens].
ACCESSION   XP_054209533
VERSION     XP_054209533.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054353558.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060929) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..667
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..667
                     /product="RUN and FYVE domain-containing protein 1 isoform
                     X12"
                     /calculated_mol_wt=75164
     CDS             1..667
                     /gene="RUFY1"
                     /gene_synonym="RABIP4; ZFYVE12"
                     /coded_by="XM_054353558.1:17..2020"
                     /db_xref="GeneID:80230"
                     /db_xref="HGNC:HGNC:19760"
                     /db_xref="MIM:610327"
ORIGIN      
        1 madreggcaa grgrelepel epgpgpgsal epgeefeivd rsqlpgpgdl rsatrpraae
       61 gwsapiltla rratgnlsas cgsalraaag lgggdsgdgt araaskcqmm eeranlmhmm
      121 klsikvllqs alslgrslda dhaplqqffv vmehclkhgl kvkksfigqn ksffgplelv
      181 eklcpeasdi atsvrnlpel ktavgrgraw lylalmqkkl adylkvlidn khllsefyep
      241 ealmmeeegm vivgllvgln vldanlclkg edldsqvgvi dfslylkdvq dldggkeher
      301 itdvldqkny veelnrhlsc tvgdlqtkid glektnsklq eelsaatdri cslqeeqqql
      361 reqnelirer seksveitkq dtkveletyk qtrqgldemy sdvwkqlkee kkvrleleke
      421 lelqigmkte meiamkllek dthekqdtlv alrqqleevk ainlqmfhka qnaesslqqk
      481 neaitsfegk tnqvmssmkq meerlqhser arqgaeersh klqqelggri galqlqlsql
      541 heqcssleke lksekeqrqa lqrelqhekd tssllrmelq qveglkkelr elqdekaelq
      601 kiceeqeqal qemglhlsqs klkmedikev nqalkghawl kddeathcrq cekefsisrr
      661 kaprepv
//
LOCUS       XP_054211122             366 aa            linear   PRI 20-MAR-2023
DEFINITION  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase
            isoform X8 [Homo sapiens].
ACCESSION   XP_054211122
VERSION     XP_054211122.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355147.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..366
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..366
                     /product="N-acetyllactosaminide
                     beta-1,6-N-acetylglucosaminyl-transferase isoform X8"
                     /calculated_mol_wt=41794
     CDS             1..366
                     /gene="GCNT2"
                     /gene_synonym="bA360O19.2; bA421M1.1; CCAT; CTRCT13;
                     GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3"
                     /coded_by="XM_054355147.1:536..1636"
                     /db_xref="GeneID:2651"
                     /db_xref="HGNC:HGNC:4204"
                     /db_xref="MIM:600429"
ORIGIN      
        1 mmgswkhclf saslisalif vfvyntelwe nkrflraals nasllaeach qifegkvfyp
       61 tenalkttld eatcyeymvr shyvtetlse eeagfplayt vtihkdfgtf erlfraiymp
      121 qnvycvhldq katdafkgav kqllscfpna flaskkesvv yggisrlqad lncledlvas
      181 evpwkyvint cgqdfplktn reivqylkgf kgknitpgvl ppdhavgrtk yvhqellnhk
      241 nsyvikttkl ktppphdmvi yfgtayvalt rdfanfvlqd qlaldllsws kdtyspdehf
      301 wvtlnripvf grykgwdvld mdhlwqqldc qivslgtsql lfprmrhses eksccaerqi
      361 vtyavp
//
LOCUS       XP_054211567             875 aa            linear   PRI 20-MAR-2023
DEFINITION  ectonucleotide pyrophosphatase/phosphodiesterase family member 3
            isoform X3 [Homo sapiens].
ACCESSION   XP_054211567
VERSION     XP_054211567.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054355592.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..875
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..875
                     /product="ectonucleotide pyrophosphatase/phosphodiesterase
                     family member 3 isoform X3"
                     /calculated_mol_wt=99994
     CDS             1..875
                     /gene="ENPP3"
                     /gene_synonym="B10; CD203c; NPP3; PD-IBETA; PDNP3"
                     /coded_by="XM_054355592.1:326..2953"
                     /db_xref="GeneID:5169"
                     /db_xref="HGNC:HGNC:3358"
                     /db_xref="MIM:602182"
ORIGIN      
        1 mestltlate qpvkkntlkk ykiacivlla llvimslglg lglglrklek qgscrkkcfd
       61 asfrglencr cdvackdrgd ccwdfedtcv estriwmcnk frcgetrlea slcscsddcl
      121 qrkdccadyk svcqgetswl eencdtaqqs qcpegfdlpp vilfsmdgfr aeylytwdtl
      181 mpninklktc gihskymram yptktfpnhy tivtglypes hgiidnnmyd vnlnknfsls
      241 skeqnnpaww hgqpmwltam yqglkaatyf wpgsevaing sfpsiympyn gsvpfeeris
      301 tllkwldlpk aerprfytmy feepdssgha ggpvsarvik alqvvdhafg mlmeglkqrn
      361 lhncvniill adhgmdqtyc nkmeymtdyf prinffymye gpaprirahn iphdffsfns
      421 eeivrnlscr kpdqhfkpyl tpdlpkrlhy aknvridkvh lfvdqqwlav rsksntncgg
      481 gnhgynnefr smeaiflahg psfkekteve pfenievynl mcdllriqpa pnngthgsln
      541 hllkvpfyep shaeevskfs vcgfanplpt esldcfcphl qnstqleqvn qmlnltqeei
      601 tatvkvnlpf grprvlqknv dhcllyhrey vsgfgkamrm pmwssytvpq lgdtsplppt
      661 vpdclradvr vppsesqkcs fyladknith gflyppasnr tsdsqydali tsnlvpmyee
      721 frkmwdyfhs vllikhater ngvnvvsgpi fdynydghfd apdeitkhla ntdvpipthy
      781 fvvltscknk shtpencpgw ldvlpfiiph rptnvescpe gkpealwvee rftahiarvr
      841 dvelltgldf yqdkvqpvse ilqlktylpt fetti
//
LOCUS       XP_054212747             557 aa            linear   PRI 20-MAR-2023
DEFINITION  tight junction-associated protein 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054212747
VERSION     XP_054212747.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054356772.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060930) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 1% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..557
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..557
                     /product="tight junction-associated protein 1 isoform X1"
                     /calculated_mol_wt=61690
     CDS             1..557
                     /gene="TJAP1"
                     /gene_synonym="PILT; TJP4"
                     /coded_by="XM_054356772.1:901..2574"
                     /db_xref="GeneID:93643"
                     /db_xref="HGNC:HGNC:17949"
                     /db_xref="MIM:612658"
ORIGIN      
        1 mtsaapakkp yrkappehre lrleipgsrl eqeepltdae rmkllqeene elrrrlasat
       61 rrtealerel eigqdclele lgqsreeldk fkdkfrrlqn sytasqrtnq eledklhtla
      121 slshswifai kkaemdrktl dweiveltnk lldakntink leelneryrl dcnlavqllk
      181 cnkshfrnhk fadlpcelqd mvrkhlhsgq eaaspgpaps lapgavvpts viarvlekpe
      241 slllnsaqsg sagrplaedv fvhvdmsegv pgdpasppap gsptpqpnge chslgtargs
      301 peeelplpaf eklnpyptps pphplypgrr viefsedkvr iprnsplpnc tyatrqaisl
      361 slveegsera rpspvpstpa saqasphhqp spapltlsap assasseedl lvswqrafvd
      421 rtpppaavaq rtafgrdalp elqrhfahsp adrdevvqap sarpeesell lptepdsgfp
      481 reeeelnlpi speeerqsll pinrgteegp gtshtegraw plpsssrpqr spkrmgvhhl
      541 hrkdsltqaq eqgnlln
//
LOCUS       XP_054213531            1941 aa            linear   PRI 20-MAR-2023
DEFINITION  protein sidekick-1 isoform X3 [Homo sapiens].
ACCESSION   XP_054213531
VERSION     XP_054213531.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054357556.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060931) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1941
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1941
                     /product="protein sidekick-1 isoform X3"
                     /calculated_mol_wt=212891
     CDS             1..1941
                     /gene="SDK1"
                     /coded_by="XM_054357556.1:3690..9515"
                     /db_xref="GeneID:221935"
                     /db_xref="HGNC:HGNC:19307"
                     /db_xref="MIM:607216"
ORIGIN      
        1 mlrglaqcif lesynirasd pqkihvlhyt pgdvgtpetm aptivvppgn rsvvagsset
       61 tleciasarp vedlsvtwkr ngvritsglh sfgrrltisn ptsadtgpyv ceaalpgsaf
      121 eparataflf iieppyftae pesrisaeve etvdigcqam gvplptlqwy kdaisisrlq
      181 nprykvlasg glriqklrpe dsgifqcfas neggeiqtht yldvtniapv ftqrpvdttv
      241 tdgmtailrc evsgapkpai twkrenhila sgsvriprfm llesgglqia pvfiqdagny
      301 tcyaantegs lnasatltvw nrtsivhppe dhvvikgtta tlhcgathdp rvslryvwkk
      361 dnvaltpsst srivvekdgs llisqtwsgd igdysceivs eggndsrmar levielphsp
      421 qnllvspnss hshavvlswv rpfdgnspil yyivelsenn spwkvhlsnv gpemtgvtvs
      481 gltpartyqf rvcavnevgr gqysaetsrl mlpeeppsap pknivasgrt nqsimvqwqp
      541 ppetehngvl rgyilryrla glpgeyqqrn itspevnycl vtdliiwtqy eiqvaaynga
      601 glgvfsravt eytlqgvpta ppqnvqteav nsttiqflwn pppqqfingi nqgykllawp
      661 adapeavtvv tiapdfhgvh hghitnlkkf tayftsvlcf ttpgdgppst pqlvwtqedk
      721 pgavghlsft eildtslkvs wqeplekngi itgyqiswev ygrndsrlth tlnsttheyk
      781 iqglssltty tidvaavtav gtglvtssti ssgvppdlpg apsnlvisni sprsatlqfr
      841 pgydgktsis rwivegqvga igdeeewvtl yeeenepdaq mleipnltpy thyrfrmkqv
      901 nivgpspysp ssrviqtlqa ppdvaptsvt vrtasetslr lrwvplpdsq yngnpesvgy
      961 rikywrsdlq ssavaqvvsd rlereftiee leewmeyelq mqafnavgag pwsevvrgrt
     1021 resvpsaape nvsaeavsst qilltwtsvp eqdqnglilg ykilfrakdl dpeprshivr
     1081 gnhtqsalla glrkfvlyel qvlaftrign gvpstplile rtkddapgpp vrlvfpevrl
     1141 tsvrivwqpp eepngiilgy qiayrlasss phtfttvevg atvrqftatd lapesayifr
     1201 lsaktrqgwg epleatvitt ekrerpappr ellvpqaevt arslrlqwvp gsdgaspiry
     1261 ftmqvrelpr gewqtysssi sheatacvvd rlrpftsykl rlkatndigd sdfsseteav
     1321 ttlqdvpgep pgsvsatpht tssvliqwqp prdeslngll qgyriyyrel eyeagsgtea
     1381 ktlknpialr aeltaqssfk tvnssststm celthlkkyr ryevimtayn iigespasap
     1441 vevfvgeaap amapqnvqvt pltasqlevt wdppppesqn gniqgykiyy weadsqnete
     1501 kmkvlflpep vvrlknltsh tkylvsisaf naagdgpksd pqqgrthqaa pgapsflafs
     1561 eitsttlnvs wgepaaangi lqgyrvvyep lapvqgvskv vtvevrgnwq rwlkvrdltk
     1621 gvtyffrvqa rtitygpelq anitagpaeg spgsprdvlv tksaseltlq wteghsgdtp
     1681 ttgyviearp sdeglwdmfv kdiprsatsy tlsldklrqg vtyefrvvav neagygepsn
     1741 pstavsaqve apfyeewwfl lvmalssliv illvvfalvl hgqnkkyknc stgkgistme
     1801 esvtldnggf aalelssrhl nvkstfskkn gtrspprpsp gglhysdedi cnkyngavlt
     1861 esvslkeksa daseseatds dyedalpkhs fvnhymsdpt yynswkrraq grapaphsva
     1921 illtsnpsay lsvaprgsas w
//
LOCUS       XP_054216239            1210 aa            linear   PRI 20-MAR-2023
DEFINITION  regulator of G-protein signaling 22 isoform X3 [Homo sapiens].
ACCESSION   XP_054216239
VERSION     XP_054216239.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054360264.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1210
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..1210
                     /product="regulator of G-protein signaling 22 isoform X3"
                     /calculated_mol_wt=140739
     CDS             1..1210
                     /gene="RGS22"
                     /gene_synonym="CT145; PRTD-NY2"
                     /coded_by="XM_054360264.1:129..3761"
                     /db_xref="GeneID:26166"
                     /db_xref="HGNC:HGNC:24499"
                     /db_xref="MIM:615650"
ORIGIN      
        1 mpekrltaep ptiteeefed slatddflvd yfneflslpt fseairfnad ygvfevanda
       61 pqflekqlkk ilqnqqprnp iydvvrkgkn evkpvqmnap dedetinvny nimclsreeg
      121 ikwikkerlp aflesdcyfe yrlaklvsqv rwsksgmnft vgsnfspwiv kkppslpppa
      181 teednlvimk kfyvslgeas ytqtkdwfal akqsqqtvst fslpccvpyn klkspaissv
      241 senfifddgv hprtkkdpsk tnklisefee eegeeeevsv slqdtpsqal lrvylekkqd
      301 vdesltmhfs tceeflssyi yfilrgaiqq ivgkpvgetp dyinfnnitk vsfddcfesi
      361 hgknflselv qttkerseei eqtslsskne sagpesradw cishrtydig nrkeferfkk
      421 fikgtlgery wwlwmdierl kvlkdpgrhq rhlekmkkcy lvsngdyyls aeilskfkll
      481 dgsqwneehl rniqsevlkp lllywaprfc vthsastkya saelkfwhlr qakprkdidp
      541 fpqmatllpl rpkscipqip eiqkeefsls qppkspnksp evktatqkpw krellypgss
      601 kddviekgsk ymsesskvih ltsftdisec lkpqldrrya yteeprvktv sdvgalggsd
      661 menllqslyv enragffftk fcehsgnklw knsvyfwfdl qayhqlfyqe tlqpfkvckq
      721 aqylfatyva psatldiglq qekkkeiymk iqppfedlfd taeeyillll lepwtkmvks
      781 dqiaykkvel veetrqldst yfrklqalhk etfskkaedt tceigtgils lsnvskrtey
      841 wdnvpaeykh fkfsdllnnk lefehfrqfl ethsssmdlm cwtdieqfrr ityrdrnqrk
      901 aksiyiknky lnkkyffgpn spaslyqqnq vmhlsggwgk ilheqldapv lveiqkhvqn
      961 rlenvwlplf laseqfaarq kikvqmkdia eelllqkaek kigvwkdlch shcdesviqk
     1021 kittiincfi nssippalqi dipveqaqki iehrkelgpy vfreaqmtif gvlfkfwpqf
     1081 cefrknltde nimsvlerrq eynkqkkkla vledeksgkd gikqyantsv paiktallsd
     1141 sflglqpygr qptwcyskyi ealeqerill kiqeelekkl faglqpltnf kassstmslk
     1201 knmsahssqk
//
LOCUS       XP_054217047             576 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein kinase 3 isoform X2 [Homo sapiens].
ACCESSION   XP_054217047
VERSION     XP_054217047.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054361072.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..576
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..576
                     /product="serine/threonine-protein kinase 3 isoform X2"
                     /calculated_mol_wt=66037
     CDS             1..576
                     /gene="STK3"
                     /gene_synonym="KRS1; MST2"
                     /coded_by="XM_054361072.1:1799..3529"
                     /db_xref="GeneID:6788"
                     /db_xref="HGNC:HGNC:11406"
                     /db_xref="MIM:605030"
ORIGIN      
        1 mcllrprqpa kfqngvwatp afwarlrsle kaiqcpffrn lekgwrdlse ldssveemlq
       61 lmdsgiticl rngaasvfkk kewstqgeen kqdsklkkls edsltkqpee vfdvleklge
      121 gsygsvfkai hkesgqvvai kqvpvesdlq eiikeisimq qcdspyvvky ygsyfkntdl
      181 wivmeycgag svsdiirlrn ktliedeiat ilkstlkgle ylhfmrkihr dikagnilln
      241 teghakladf gvagqltdtm akrntvigtp fwmapeviqe igyncvadiw slgitsiema
      301 egkppyadih pmraifmipt nppptfrkpe lwsddftdfv kkclvknpeq ratatqllqh
      361 pfiknakpvs ilrdliteam eikakrheeq qreleeeeen sdedeldsht mvktsvesvg
      421 tmratstmse gaqtmiehns tmlesdlgtm vinsedeeee dgtmkrnats pqvqrpsfmd
      481 yfdkqdfknk shencnqnmh epfpmsknvf pdnwkvpqdg dfdflknlsl eelqmrlkal
      541 dpmmereiee lrqrytakrq pildamdakk rrqqnf
//
LOCUS       XP_047301176             675 aa            linear   PRI 20-MAR-2023
DEFINITION  putative exonuclease GOR [Homo sapiens].
ACCESSION   XP_047301176
VERSION     XP_047301176.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047445220.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 26% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..675
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..675
                     /product="putative exonuclease GOR"
                     /calculated_mol_wt=73752
     Region          281..401
                     /region_name="EloA-BP1"
                     /note="ElonginA binding-protein 1; pfam15870"
                     /db_xref="CDD:434984"
     Region          502..651
                     /region_name="REX1_like"
                     /note="DEDDh 3'-5' exonuclease domain of RNA exonuclease
                     1, -3 and similar eukaryotic proteins; cd06145"
                     /db_xref="CDD:99848"
     Site            order(505..508,510,583..584,586..588,637,642)
                     /site_type="active"
                     /db_xref="CDD:99848"
     Site            order(505..508,510,583..584,586..587,637,642)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:99848"
     Site            order(505,507,588,637,642)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:99848"
     CDS             1..675
                     /gene="LOC124906695"
                     /coded_by="XM_047445220.1:1..2028"
                     /db_xref="GeneID:124906695"
ORIGIN      
        1 mlratapcwf ppgypeakkv aeeaaleasr hlggeqsqag apegskmlra tapcwfrpgy
       61 peakkvakea apeasrhlga eqspagapeg skmlratapc wfppgypeak kvaeeaalea
      121 pefplpshqp aqsfglwvpq mhkqasafvd iqaepqnrgp avppawpkmv tescyfpaqr
      181 gsacrlpaap rlterpsgvr isaprkrkti ahssspclvt gytdakrtrv asssqrsrgs
      241 kvgrqpgktr nrsgmacktt attsskrivr raslpslslk kpiilrssgc qvptvlrrgy
      301 lqlfteeclk fcaskqeaee kalneekvay dcspnknryl nvvlntlkrl kgltpssmpg
      361 lsraalysrl qeflltqdql kengypfphp erpggavlft gqgkgpgdss crvccrcgte
      421 ylvsssgrcv rdqlcyyhwg rvrssqvagg rvsqytccaa apgsvgcqva kqhvrdgrke
      481 sldgfvetfk kelsrdaypg iyaldcemcy tthgleltrv tvvdadmrvv ydtfvkpdne
      541 ivdyntrfsg vteadvakts itlpqvqail lsffsaqtil ighslesdll alklihstvv
      601 dtavlfphyl gfpykrslrn laadylaqii qdsqdghnss edanaclqlv mwkvrqraqi
      661 qprhrsaspa alacp
//
LOCUS       XP_047301182             675 aa            linear   PRI 20-MAR-2023
DEFINITION  putative exonuclease GOR [Homo sapiens].
ACCESSION   XP_047301182
VERSION     XP_047301182.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047445226.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060932) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 26% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..675
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..675
                     /product="putative exonuclease GOR"
                     /calculated_mol_wt=73752
     Region          281..401
                     /region_name="EloA-BP1"
                     /note="ElonginA binding-protein 1; pfam15870"
                     /db_xref="CDD:434984"
     Region          502..651
                     /region_name="REX1_like"
                     /note="DEDDh 3'-5' exonuclease domain of RNA exonuclease
                     1, -3 and similar eukaryotic proteins; cd06145"
                     /db_xref="CDD:99848"
     Site            order(505..508,510,583..584,586..588,637,642)
                     /site_type="active"
                     /db_xref="CDD:99848"
     Site            order(505..508,510,583..584,586..587,637,642)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:99848"
     Site            order(505,507,588,637,642)
                     /site_type="active"
                     /note="catalytic site [active]"
                     /db_xref="CDD:99848"
     CDS             1..675
                     /gene="LOC124906700"
                     /coded_by="XM_047445226.1:1..2028"
                     /db_xref="GeneID:124906700"
ORIGIN      
        1 mlratapcwf ppgypeakkv aeeaaleasr hlggeqsqag apegskmlra tapcwfrpgy
       61 peakkvakea apeasrhlga eqspagapeg skmlratapc wfppgypeak kvaeeaalea
      121 pefplpshqp aqsfglwvpq mhkqasafvd iqaepqnrgp avppawpkmv tescyfpaqr
      181 gsacrlpaap rlterpsgvr isaprkrkti ahssspclvt gytdakrtrv asssqrsrgs
      241 kvgrqpgktr nrsgmacktt attsskrivr raslpslslk kpiilrssgc qvptvlrrgy
      301 lqlfteeclk fcaskqeaee kalneekvay dcspnknryl nvvlntlkrl kgltpssmpg
      361 lsraalysrl qeflltqdql kengypfphp erpggavlft gqgkgpgdss crvccrcgte
      421 ylvsssgrcv rdqlcyyhwg rvrssqvagg rvsqytccaa apgsvgcqva kqhvrdgrke
      481 sldgfvetfk kelsrdaypg iyaldcemcy tthgleltrv tvvdadmrvv ydtfvkpdne
      541 ivdyntrfsg vteadvakts itlpqvqail lsffsaqtil ighslesdll alklihstvv
      601 dtavlfphyl gfpykrslrn laadylaqii qdsqdghnss edanaclqlv mwkvrqraqi
      661 qprhrsaspa alacp
//
LOCUS       XP_054218368             300 aa            linear   PRI 20-MAR-2023
DEFINITION  prostaglandin reductase 1 isoform X1 [Homo sapiens].
ACCESSION   XP_054218368
VERSION     XP_054218368.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362393.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..300
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..300
                     /product="prostaglandin reductase 1 isoform X1"
                     /calculated_mol_wt=32614
     CDS             1..300
                     /gene="PTGR1"
                     /gene_synonym="DIG-1; LTB4DH; PGR1; ZADH3"
                     /coded_by="XM_054362393.1:56..958"
                     /db_xref="GeneID:22949"
                     /db_xref="HGNC:HGNC:18429"
                     /db_xref="MIM:601274"
ORIGIN      
        1 mvrtktwtlk khfvgyptns dfelktselp plkngevlle alfltvdpym rvaakrlkeg
       61 dtmmgqqvak vvesknvalp kgtivlaspg wtthsisdgk dleklltewp dtiplslalg
      121 tvgmpgltay fglleicgvk ggetvmvnaa agavgsvvgq iaklkgckvv gavgsdekva
      181 ylqklgfdvv fnyktvesle etlkkaspdg ydcyfdnvgg efsntvigqm kkfgriaicg
      241 aistynrtgp lppgpppeiv iyqelrmeaf vvyrwqgdar qkalkdllkw vlelpyfvid
//
LOCUS       XP_054218371             254 aa            linear   PRI 20-MAR-2023
DEFINITION  prostaglandin reductase 1 isoform X2 [Homo sapiens].
ACCESSION   XP_054218371
VERSION     XP_054218371.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054362396.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 12% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..254
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..254
                     /product="prostaglandin reductase 1 isoform X2"
                     /calculated_mol_wt=27055
     CDS             1..254
                     /gene="PTGR1"
                     /gene_synonym="DIG-1; LTB4DH; PGR1; ZADH3"
                     /coded_by="XM_054362396.1:104..868"
                     /db_xref="GeneID:22949"
                     /db_xref="HGNC:HGNC:18429"
                     /db_xref="MIM:601274"
ORIGIN      
        1 mvrtktwtlk khfvgyptns dfelktselp plkngevlle alfltvdpym rvaakrlkeg
       61 dtmmgqqvak vvesknvalp kgtivlaspg wtthsisdgk dleklltewp dtiplslalg
      121 tvgmpgltay fglleicgvk ggetvmvnaa agavgsvvgq iaklkgckvv gavgsdekva
      181 ylqklgfdvv fnyktvesle etlkkaspdg ydcyfdnvgg efsntvigqm kkfgriaicg
      241 aistynrtgp lppg
//
LOCUS       XP_054219937             345 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger CCHC domain-containing protein 7 isoform X4 [Homo
            sapiens].
ACCESSION   XP_054219937
VERSION     XP_054219937.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054363962.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060933) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..345
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..345
                     /product="zinc finger CCHC domain-containing protein 7
                     isoform X4"
                     /calculated_mol_wt=40881
     CDS             1..345
                     /gene="ZCCHC7"
                     /gene_synonym="AIR1; HSPC086"
                     /coded_by="XM_054363962.1:724..1761"
                     /db_xref="GeneID:84186"
                     /db_xref="HGNC:HGNC:26209"
ORIGIN      
        1 mikmmisfst lwdvktlllk aqiannrtpg rwtqryysan kniicrncdk rghlskncpl
       61 prkvrrcflc srrghllysc paplceycpv pkmldhsclf rhswdkqcdr chmlghytda
      121 cteiwrqyhl ttkpgppkkp ktpsrpsala ycyhcaqkgh yghecperev ydpspvspfi
      181 cyyddkyeiq erekrlkqki kvlkkngvip epsklpyika anenphhdir kgraswksnr
      241 wpqenketqk emknknrnwe khrkadrhre vdedfprgpk tysspgsfkt qkpskpfhrs
      301 shyhtsredk spkegkrgkq kkkercwedd dndnlflikq rkkks
//
LOCUS       XP_054182835             565 aa            linear   PRI 20-MAR-2023
DEFINITION  serine/threonine-protein phosphatase 2A regulatory subunit B''
            subunit beta isoform X2 [Homo sapiens].
ACCESSION   XP_054182835
VERSION     XP_054182835.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326860.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..565
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..565
                     /product="serine/threonine-protein phosphatase 2A
                     regulatory subunit B'' subunit beta isoform X2"
                     /calculated_mol_wt=63903
     CDS             1..565
                     /gene="PPP2R3B"
                     /gene_synonym="NYREN8; PPP2R3L; PPP2R3LY; PR48; PR70"
                     /coded_by="XM_054326860.1:217..1914"
                     /db_xref="GeneID:28227"
                     /db_xref="HGNC:HGNC:13417"
                     /db_xref="MIM:300339"
ORIGIN      
        1 mppgkvlqpv lkmkvdelfl ywlseastqr mlqdclrrik apgrdqptpg dgeqpgawpt
       61 aplaaprpsg leppgtpgpg palplgaass prnaphvrgt rrsagtrvvq trkeeplppa
      121 tsqsiptfyf prgrpqdsvn vdaviskies tfarfphera tmddmglvak acgcplywkg
      181 plfygagger tgsvsvhkfv amwrkilqnc hddaakfvhl lmspgcnylv qedfvpflqd
      241 vvnthpglsf lkeasefhsr yittviqrif yavnrswsgr itcaelrrss flqnvallee
      301 eadinqltef fsyehfyviy ckfweldtdh dllidaddla rhndhalstk midrifsgav
      361 trgrkvqkeg kisyadfvwf liseedkktp tsieywfrcm dldgdgalsm feleyfyeeq
      421 crrldsmaie alpfqdclcq mldlvkprte gkitlqdlkr cklanvffdt ffniekyldh
      481 eqkeqisllr dgdsggpels dwekyaaeey dilvaeetvg epwedgdgvs pccpgwswmp
      541 elegsprlgp ptcrnyrrep ppsle
//
LOCUS       XP_054182909             563 aa            linear   PRI 20-MAR-2023
DEFINITION  SH3 domain-containing kinase-binding protein 1 isoform X13 [Homo
            sapiens].
ACCESSION   XP_054182909
VERSION     XP_054182909.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054326934.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..563
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..563
                     /product="SH3 domain-containing kinase-binding protein 1
                     isoform X13"
                     /calculated_mol_wt=61496
     CDS             1..563
                     /gene="SH3KBP1"
                     /gene_synonym="AGMX2; CD2BP3; CIN85; GIG10; HSB-1; HSB1;
                     IMD61; MIG18"
                     /coded_by="XM_054326934.1:76..1767"
                     /db_xref="GeneID:30011"
                     /db_xref="HGNC:HGNC:13867"
                     /db_xref="MIM:300374"
ORIGIN      
        1 mkkdpltnka pekplhevps gnsllsseti lrtnkrgerr rrrcqvafsy lpqnddelel
       61 kvgdiievvg eveegwwegv lngktgmfps nfikelsges delgisqdeq lsksslrett
      121 gsesdggdss stksegangt vataaiqpkk vkgvgfgdif kdkpiklrpr sievendflp
      181 vektigkklp attatpdssk temdsrtksk dyckvifpye aqnddeltik egdivtlink
      241 dcidvgwweg elngrrgvfp dnfvkllppd fekegnrpkk ppppsapvik qgagtterkh
      301 eikkipperp emlpnrteek erperepkld lqkpsvpaip pkkprppktn slsrpgalpp
      361 rrperpvgpl thtrgdspki dlagsslsgi ldkdlsdrsn didlegfdsv vssteklshp
      421 ttsrpkatgr rppsqsltsv sdnkaslppk pgtmaagggg paplssaaps plssslgtag
      481 hranspslfg tegkpkmepa assqaaveel rtqvrelrsi ietmkdqqkr eikqllseld
      541 eekkirlrlq mevndikkal qsk
//
LOCUS       XP_054183332             389 aa            linear   PRI 20-MAR-2023
DEFINITION  RNA-binding protein 41 isoform X4 [Homo sapiens].
ACCESSION   XP_054183332
VERSION     XP_054183332.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327357.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..389
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..389
                     /product="RNA-binding protein 41 isoform X4"
                     /calculated_mol_wt=44059
     CDS             1..389
                     /gene="RBM41"
                     /coded_by="XM_054327357.1:43..1212"
                     /db_xref="GeneID:55285"
                     /db_xref="HGNC:HGNC:25617"
ORIGIN      
        1 mpsrhgprel agccgfvvsp gpswakgfea dkfpapemvn scvksdehvl eeletegerq
       61 lksllqhqld tsvsieecms kkesfapgtm ykpfgkeaag tmtlsqfqtl hekdqetasl
      121 relglnetei liwkshvsge kktklratpe aiqnrlqdie eriserqril clpqrfaksk
      181 qltrremeie kslfqgadrh sflkalyyqa yhkktsadky mtsmkrkikl gtkdepqkkn
      241 kgdpmnnles fyqemimkkr leefqlmrge pfashslvsa tsvgdsgtae spsllqdkgk
      301 qaaqgkgpsl hvanvidfsp eqcwtgpkkl tqpiefvped eiqrnrlsee eirkipmfss
      361 ynpgepnkdl pvfpektski fltrvlpaf
//
LOCUS       XP_054183595             477 aa            linear   PRI 20-MAR-2023
DEFINITION  cytoplasmic tyrosine-protein kinase BMX isoform X1 [Homo sapiens].
ACCESSION   XP_054183595
VERSION     XP_054183595.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327620.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..477
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..477
                     /product="cytoplasmic tyrosine-protein kinase BMX isoform
                     X1"
                     /calculated_mol_wt=54726
     CDS             1..477
                     /gene="BMX"
                     /gene_synonym="ETK; PSCTK2; PSCTK3"
                     /coded_by="XM_054327620.1:144..1577"
                     /db_xref="GeneID:660"
                     /db_xref="HGNC:HGNC:1079"
                     /db_xref="MIM:300101"
ORIGIN      
        1 mdtksileel llkrsqqkkk mspnnykerl fvltktnlsy yeydkmkrgs rkgsieikki
       61 rcvekvnlee qtpverqypf qivykdglly vyasneesrs qwlkalqkei rgnphllvky
      121 hsgffvdgkf lccqqsckaa pgctlweaya nlhtavneek hrvptfpdrv lkipravpvl
      181 kmdapssstt laqydneskk nygsqppsss tslaqydsns kkiygsqpnf nmqyipredf
      241 pdwwqvrklk sssssedvas snqkernvnh ttskiswefp esssseeeen lddydwfagn
      301 isrsqseqll rqkgkegafm vrnssqvgmy tvslfskavn dkkgtvkhyh vhtnaenkly
      361 laenycfdsi pklihyhqhn sagmitrlrh pvstkankvp dsvslgngiw elkreeitll
      421 kelgsgqfgv vqlgkwkgqy dvavkmikeg smsedeffqe aqtmmllvta wwteisv
//
LOCUS       XP_054183814             656 aa            linear   PRI 20-MAR-2023
DEFINITION  zinc finger protein 185 isoform X29 [Homo sapiens].
ACCESSION   XP_054183814
VERSION     XP_054183814.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327839.1
KEYWORDS    RefSeq; includes ab initio.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            
            ##RefSeq-Attributes-START##
            ab initio :: 2% of CDS bases
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..656
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..656
                     /product="zinc finger protein 185 isoform X29"
                     /calculated_mol_wt=70253
     CDS             1..656
                     /gene="ZNF185"
                     /gene_synonym="SCELL"
                     /coded_by="XM_054327839.1:232..2202"
                     /db_xref="GeneID:7739"
                     /db_xref="HGNC:HGNC:12976"
                     /db_xref="MIM:300381"
ORIGIN      
        1 msisalggrt kgkplppgee ernnvlkqmk vrttlkgdks witkqdeseg rtielpsgrs
       61 ratsfssage vpkprppstr aptgyiirgv ftkpidsssq pqqqfpkang tpksaaslvr
      121 tanagpprps ssgykmtted ykklapynir rsstsgdtee eeeeevvpfs sdeqkrrsea
      181 asgvlrrtap rehsyvlsaa kkstgptqet qapfiakrve vveedgpsek sqdppalars
      241 tpgsnsadgg rtkasraiwi eclpsmpspa gsqelssrge eivrlqiltp raglrlvapd
      301 vegmrsspgn kdkeapcsre lqrdlageea frapntdaas ssatsvsavp adrksnstaa
      361 qedakadpkg aladyegkdv atrvgeawqe rpgaprggqg dpavpaqqpa dpstperqss
      421 psgseqlvrr escgssvltd fegkdvatkv geawqdrpga prggqgdpav ptqqpadpst
      481 peqqnspsgs eqfvrresct srvrspsscm vtvtvtatse qphiyipapa seldsssttk
      541 gilfvkeyvn asevssgkpv sarysnvssi edsfamekkp pcgstpyser ttggictycn
      601 reirdcpkit lehlgicche ycfkcgicsk pmgdlldqif ihrdtihcgk cyeklf
//
LOCUS       XP_054183884             459 aa            linear   PRI 20-MAR-2023
DEFINITION  tRNA (uracil-5-)-methyltransferase homolog B isoform X2 [Homo
            sapiens].
ACCESSION   XP_054183884
VERSION     XP_054183884.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054327909.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060947) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..459
                     /organism="Homo sapiens"
                     /isolate="CHM13"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /sex="female"
                     /cell_line="CHM13htert"
                     /tissue_type="hydatidiform mole"
                     /note="haploid cell line"
     Protein         1..459
                     /product="tRNA (uracil-5-)-methyltransferase homolog B
                     isoform X2"
                     /calculated_mol_wt=51354
     CDS             1..459
                     /gene="TRMT2B"
                     /gene_synonym="CXorf34; dJ341D10.3"
                     /coded_by="XM_054327909.1:411..1790"
                     /db_xref="GeneID:79979"
                     /db_xref="HGNC:HGNC:25748"
ORIGIN      
        1 maglkrrvpl hslryfismv glfskpgllp wyarnppgws qlflgtvckg dftrviatkc
       61 qkgqksqkkp shlgpldgsw qerladvvtp lwrlsyeeql kpvingyrnk stfsvnrgpd
      121 gnpktvgfyl gtwrdgnvvc vqsnhlknip ekhsqvaqyy evflrqsple pclvfheggy
      181 wreltvrtns qghtmaiitf hpqklsqeel hvqkeivkef firgpgaacg ltslyfqest
      241 mtrcshqqsp yqllfgepyi feellslkir ispdaffqin tagaemlyrt vgeltgvnsd
      301 tilldiccgt gviglslaqh tsrvlgiell eqavedarwt aafngitnse fhtgqaekil
      361 pgllkskedg qsivavvnpa raglhykviq airnfraiht lvfvscklhg estrnvielc
      421 cppdpakkll gepfvlqqav pvdlfphtph celvllftr
//
LOCUS       XP_054184215             288 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-specific Y-encoded protein 10 isoform X1 [Homo sapiens].
ACCESSION   XP_054184215
VERSION     XP_054184215.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_054328240.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060948) annotated using gene prediction method: Gnomon.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..288
                     /organism="Homo sapiens"
                     /isolate="NA24385"
                     /bio_material="CORIELL:NA24385"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /sex="male"
                     /tissue_type="B-Lymphocyte"
     Protein         1..288
                     /product="testis-specific Y-encoded protein 10 isoform X1"
                     /calculated_mol_wt=31725
     CDS             1..288
                     /gene="TSPY10"
                     /gene_synonym="CT78; TSPY; TSPY1; TSPY3"
                     /coded_by="XM_054328240.1:14..880"
                     /db_xref="GeneID:100289087"
                     /db_xref="HGNC:HGNC:37473"
ORIGIN      
        1 mrpegsltyr vperlrqgfc gvgraaqalv casakegtaf rmeavqegaa gveseqaalg
       61 eeavlllddi maevevvaee eglverreea qraqqavpgp gpmtpesale ellavqvele
      121 pvnaqarkaf srqrekmerr rkpqldrrga viqsvpgfwa nvianhpqms alitdededm
      181 lsymvsleve eekhpvhlck imlffrsnpy fqnkvitkey lvnitgllip lqlsgirimk
      241 wrpiaadttt aaltsstgsl tttsqdltrl lrsyvrtcga ipcnttrg
//
LOCUS       XP_047303213             308 aa            linear   PRI 20-MAR-2023
DEFINITION  testis-specific Y-encoded protein 3 isoform X1 [Homo sapiens].
ACCESSION   XP_047303213
VERSION     XP_047303213.1
DBLINK      BioProject: PRJNA807723
DBSOURCE    REFSEQ: accession XM_047447257.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_060948) annotated using gene prediction method: Gnomon,
            supported by EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_009914755.1-RS_2023_03
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.1
            URL Organism                :: Homo_sapiens
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 03/15/2023
            ##Genome-Annotation-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Homo sapiens"
                     /isolate="NA24385"
                     /bio_material="CORIELL:NA24385"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /sex="male"
                     /tissue_type="B-Lymphocyte"
     Protein         1..308
                     /product="testis-specific Y-encoded protein 3 isoform X1"
                     /calculated_mol_wt=34970
     Region          126..288
                     /region_name="NAP"
                     /note="Nucleosome assembly protein (NAP); cl08298"
                     /db_xref="CDD:447601"
     CDS             1..308
                     /gene="LOC124909294"
                     /coded_by="XM_047447257.1:15..941"
                     /db_xref="GeneID:124909294"
ORIGIN      
        1 mrpegsltyr vperlrqgfc gvgraaqalv casakegtaf rmeavqegaa gveseqaalg
       61 eeavlllddi maevevvaee eglverreea qraqqavpgp gpmtpesale ellavqvele
      121 pvnaqarkaf srqrekmerr rkphldrrga viqsvpgfwa nvianhpqms alitdededm
      181 lsymvsleve eekhpvhlck imlffrsnpy fqnkvitkey lvniteyras hstpiewypd
      241 yeveayrrrh hnsslnffnw fsdhnfagsn kiaeilckdl wrnplqyykr mkppeegtet
      301 sgdsqlls
//
LOCUS       NP_056040               3088 aa            linear   PRI 23-MAR-2023
DEFINITION  protein prune homolog 2 isoform 1 [Homo sapiens].
ACCESSION   NP_056040 XP_041018
VERSION     NP_056040.2
DBSOURCE    REFSEQ: accession NM_015225.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 3088)
  AUTHORS   Cardoso M, Maia S, Brandao A, Sahasrabudhe R, Lott P, Belter N,
            Carvajal-Carmona LG, Paulo P and Teixeira MR.
  TITLE     Exome sequencing of affected duos and trios uncovers PRUNE2 as a
            novel prostate cancer predisposition gene
  JOURNAL   Br J Cancer 128 (6), 1077-1085 (2023)
   PUBMED   36564567
  REMARK    GeneRIF: Exome sequencing of affected duos and trios uncovers
            PRUNE2 as a novel prostate cancer predisposition gene.
REFERENCE   2  (residues 1 to 3088)
  AUTHORS   Li T, Huang S, Yan W, Zhang Y and Guo Q.
  TITLE     FOXF2 Regulates PRUNE2 Transcription in the Pathogenesis of
            Colorectal Cancer
  JOURNAL   Technol Cancer Res Treat 21, 15330338221118717 (2022)
   PUBMED   35929169
  REMARK    GeneRIF: FOXF2 Regulates PRUNE2 Transcription in the Pathogenesis
            of Colorectal Cancer.
REFERENCE   3  (residues 1 to 3088)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (residues 1 to 3088)
  AUTHORS   Salameh A, Lee AK, Cardo-Vila M, Nunes DN, Efstathiou E, Staquicini
            FI, Dobroff AS, Marchio S, Navone NM, Hosoya H, Lauer RC, Wen S,
            Salmeron CC, Hoang A, Newsham I, Lima LA, Carraro DM, Oliviero S,
            Kolonin MG, Sidman RL, Do KA, Troncoso P, Logothetis CJ, Brentani
            RR, Calin GA, Cavenee WK, Dias-Neto E, Pasqualini R and Arap W.
  TITLE     PRUNE2 is a human prostate cancer suppressor regulated by the
            intronic long noncoding RNA PCA3
  JOURNAL   Proc Natl Acad Sci U S A 112 (27), 8403-8408 (2015)
   PUBMED   26080435
  REMARK    GeneRIF: Results show prostate cancer antigen 3 (PCA3) as a
            dominant-negative oncogene and PRUNE2 protein as an unrecognized
            tumor suppressor gene in prostate cancer.
REFERENCE   5  (residues 1 to 3088)
  AUTHORS   Harris JL, Richards RS, Chow CW, Lee S, Kim M, Buck M, Teng L,
            Clarke R, Gardiner RA and Lavin MF.
  TITLE     BMCC1 is an AP-2 associated endosomal protein in prostate cancer
            cells
  JOURNAL   PLoS One 8 (9), e73880 (2013)
   PUBMED   24040105
  REMARK    GeneRIF: BMCC1 is an AP-2 associated endosomal protein in prostate
            cancer cells.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 3088)
  AUTHORS   Iwama E, Tsuchimoto D, Iyama T, Sakumi K, Nakagawara A, Takayama K,
            Nakanishi Y and Nakabeppu Y.
  TITLE     Cancer-related PRUNE2 protein is associated with nucleotides and is
            highly expressed in mature nerve tissues
  JOURNAL   J Mol Neurosci 44 (2), 103-114 (2011)
   PUBMED   21234814
  REMARK    GeneRIF: The nerve tissue-specific and post-development expression
            of PRUNE2/Prune2 suggests that PRUNE2 may contribute to the
            maintenance of mature nervous systems.
REFERENCE   7  (residues 1 to 3088)
  AUTHORS   Clarke RA, Zhao Z, Guo AY, Roper K, Teng L, Fang ZM, Samaratunga H,
            Lavin MF and Gardiner RA.
  TITLE     New genomic structure for prostate cancer specific gene PCA3 within
            BMCC1: implications for prostate cancer detection and progression
  JOURNAL   PLoS One 4 (3), e4995 (2009)
   PUBMED   19319183
  REMARK    GeneRIF: the longer BMCC1-1 isoform is upregulated in PCa tissues
            and metastases
REFERENCE   8  (residues 1 to 3088)
  AUTHORS   Price ND, Trent J, El-Naggar AK, Cogdell D, Taylor E, Hunt KK,
            Pollock RE, Hood L, Shmulevich I and Zhang W.
  TITLE     Highly accurate two-gene classifier for differentiating
            gastrointestinal stromal tumors and leiomyosarcomas
  JOURNAL   Proc Natl Acad Sci U S A 104 (9), 3414-3419 (2007)
   PUBMED   17360660
  REMARK    GeneRIF: OBSCN and C9orf65 comprise a highly accurate two-gene
            classifier for differentiating gastrointestinal stromal tumors and
            leiomyosarcomas.
REFERENCE   9  (residues 1 to 3088)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   10 (residues 1 to 3088)
  AUTHORS   Machida T, Fujita T, Ooo ML, Ohira M, Isogai E, Mihara M, Hirato J,
            Tomotsune D, Hirata T, Fujimori M, Adachi W and Nakagawara A.
  TITLE     Increased expression of proapoptotic BMCC1, a novel gene with the
            BNIP2 and Cdc42GAP homology (BCH) domain, is associated with
            favorable prognosis in human neuroblastomas
  JOURNAL   Oncogene 25 (13), 1931-1942 (2006)
   PUBMED   16288218
  REMARK    GeneRIF: BMCC1 is a new member of prognostic factors for NBL and
            may play an important role in regulating differentiation, survival
            and aggressiveness of the tumor cells
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL390239.16, BC019095.2,
            DA410068.1, AB050197.1, AL359314.14 and BQ008420.1.
            On Dec 11, 2007 this sequence version replaced NP_056040.1.
            
            Summary: The protein encoded by this gene belongs to the B-cell
            CLL/lymphoma 2 and adenovirus E1B 19 kDa interacting family, whose
            members play roles in many cellular processes including apotosis,
            cell transformation, and synaptic function. Several functions for
            this protein have been demonstrated including suppression of Ras
            homolog family member A activity, which results in reduced stress
            fiber formation and suppression of oncogenic cellular
            transformation. A high molecular weight isoform of this protein has
            also been shown to colocalize with Adaptor protein complex 2,
            beta-Adaptin and endodermal markers, suggesting an involvement in
            post-endocytic trafficking. In prostate cancer cells, this gene
            acts as a tumor suppressor and its expression is regulated by
            prostate cancer antigen 3, a non-protein coding gene on the
            opposite DNA strand in an intron of this gene. Prostate cancer
            antigen 3 regulates levels of this gene through formation of a
            double-stranded RNA that undergoes adenosine deaminase actin on
            RNA-dependent adenosine-to-inosine RNA editing. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jul 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. This RefSeq lacks full-length transcript
            support, but the extent of this transcript is supported by
            transcript alignments in human, aligning orthologous transcripts,
            and on functional support for the protein in PMID: 16288218.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000376718.8/ ENSP00000365908.3
            RefSeq Select criteria    :: based on conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..3088
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.2"
     Protein         1..3088
                     /product="protein prune homolog 2 isoform 1"
                     /note="BCH motif-containing molecule at the carboxyl
                     terminal region 1; BNIP2 motif containing molecule at the
                     carboxyl terminal region 1; protein prune homolog 2;
                     olfaxin; BNIP2 motif-containing molecule at the C-terminal
                     region 1"
                     /calculated_mol_wt=340506
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          24..278
                     /region_name="PPX1"
                     /note="Inorganic pyrophosphatase/exopolyphosphatase
                     [Energy production and conversion, Inorganic ion transport
                     and metabolism]; COG1227"
                     /db_xref="CDD:224148"
     Region          109..111
                     /region_name="DHH motif. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          433..468
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          490..628
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          673..759
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          771..795
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          846..909
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          952..1080
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          1192..1211
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          1231..1371
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          1413..1452
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          1472..1491
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          1515..1585
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          1632..1698
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          1741..1768
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          1782..1813
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          2089..2114
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          2173..2215
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          2240..2260
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          2492..2542
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          2589..2667
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          2687..2710
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          2799..2915
                     /region_name="BNIP2"
                     /note="Bcl2-/adenovirus E1B nineteen kDa-interacting
                     protein 2; pfam12496"
                     /db_xref="CDD:432594"
     Region          2814..2833
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          2841..2875
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUY3.3)"
     Region          2899..3045
                     /region_name="SEC14"
                     /note="Sec14p-like lipid-binding domain. Found in
                     secretory proteins, such as S. cerevisiae
                     phosphatidylinositol transfer protein (Sec14p), and in
                     lipid regulated proteins such as RhoGAPs, RhoGEFs and
                     neurofibromin (NF1). SEC14 domain of Dbl is known to...;
                     cd00170"
                     /db_xref="CDD:238099"
     Site            order(2920,2922,2926,2953,2963,2978,2982,2986,2990,2993,
                     2996,2998,3005,3012,3024)
                     /site_type="other"
                     /note="phospholipid binding pocket [chemical binding]"
                     /db_xref="CDD:238099"
     Site            order(2991,3023)
                     /site_type="other"
                     /note="salt bridge"
                     /db_xref="CDD:238099"
     CDS             1..3088
                     /gene="PRUNE2"
                     /gene_synonym="BMCC1; BNIPXL; C9orf65; KIAA0367"
                     /coded_by="NM_015225.3:152..9418"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS47982.1"
                     /db_xref="GeneID:158471"
                     /db_xref="HGNC:HGNC:25209"
                     /db_xref="MIM:610691"
ORIGIN      
        1 meeflqraks klnrskrlek vhvvigpksc dldslistft yayfldkvsp pgvlclpvln
       61 iprtefnyft etrfileeln isesfhifrd einlhqlnde gklsitlvgs svlasedktl
      121 esavvkvinp veqsdanvef resssslvlk eilqeapeli teqlahrlrg silfkwmtme
      181 sekisekqee ilsileekfp nlpprediin vlqetqfsaq glsieqtmlk dlkelsdgei
      241 kvaistvsmn lenclfhsni tsdlkaftdk fgfdvlilfs sylseeqqpr rqiavysenm
      301 elcsqiccel eecqnpclel epfdcgcdei lvyqqedpsv tcdqvvlvvk evinrrcpem
      361 vsnsrtsste avagsaplsq gssgimelyg sdiepqpssv nfienppdln dsnqaqvdan
      421 vdlvspdsgl atirssrssk essvflsdds pvgegagphh tllpgldsys pipegavaee
      481 hawsgehgeh fdlfnfdpap masgqsqqss hsadyspadd ffpnsdlseg qlpagpegld
      541 gmgtnmsnys sssllsgagk dslvehdeef vqrqdsprdn sernlsltdf vgdespsper
      601 lkntgkripp tpmnslvess psteepasly tedmtqkatd tghmgppqth arcsswwggl
      661 eidskniada wssseqesvf qspeswkehk pssidrrasd svfqpkslef tksgpwesef
      721 gqpelgsndi qdkneeslpf qnlpmekspl pntspqgtnh liedfaslwh sgrsptampe
      781 pwgnptddge paavapfpaw safgkedhde alkntwnlhp tssktpsvrd pnewamaksg
      841 fafssselld nspseinnea apeiwgkknn dsrdhifapg npssdldhtw tnskppkedq
      901 nglvdpktrg kvyekvdswn lfeenmkkgg sdvlvpweds flsykcsdys asnlgedsvp
      961 spldtnysts dsytsptfag deketehkpf akeegfeskd gnstaeetdi ppqslqqssr
     1021 nrissgpgnl dmwasphtdn sseintthnl denelkteht dgknismedd vgessqssyd
     1081 dpsmmqlyne tnrqltllhs stnsrqtapd sldlwnrvil edtqstatis dmdndldwdd
     1141 csggaaipsd gqtegymaeg sepetrftvr qlepwgleyq eanqvdwelp asdehtkdsa
     1201 psehhtlnek sgqliansiw dsvmrdkdms sfmlpgsshi tdseqrelpp eipshsanvk
     1261 dthspdapaa sgtseseali shldkqdter etlqsdaasl atrlenpgyf phpdpwkghg
     1321 dgqsesekea qgatdrghld eeeviasgve nasgisekgq sdqelsslva sehqeiciks
     1381 gkisslavtf spqteepeev leyeegsynl dsrdvqtgms adnlqpkdth ekhlmsqrns
     1441 gettetsdgm nftkyvsvpe kdlekteecn flepenvggg pphrvprsld fgdvpidsdv
     1501 hvsstcseit knldvkgsen slpgagssgn fdrdtissey thssasspel ndssvalssw
     1561 gqqpssgyqe enqgnwseqn hqeselittd gqveivtkvk dleknrinef eksfdrktpt
     1621 fleiwndsvd gdsfsslssp etgkysehsg thqesnlias yqeknehdis atvqpedarv
     1681 istssgsddd svggeesiee eiqvanchva edesrawdsl nesnkflvta dpkseniydy
     1741 ldssepaene nksnpfcdnq qsspdpwtfs pltetemqit avekekrssp etgttgdvaw
     1801 qispkasfpk nednsqleml gfsadsteww kaspqegrli espferelsd ssgvleinss
     1861 vhqnaspwgv pvqgdiepve thytnpfsdn hqspflegng knsheqlwni qprqpdpdad
     1921 kfsqlvkldq ikekdsreqt fvsaagdelt petptqeqcq dtmlpvcdhp dtafthaeen
     1981 scvtsnvstn egqetnqweq eksylgemtn ssiatenfpa vssptqlimk pgsewdgstp
     2041 sedsrgtfvp dilhgnfqeg gqlasaapdl widakkpfsl kadgenpdil thcehdsnsq
     2101 asdspdichd seakqetekh lsacmgpeve sselcltepe ideepiyepg refvpsnael
     2161 dsenatvlpp igyqadikgs sqpashkgsp epseingdns tglqvsekga spdmapilep
     2221 vdrriprien vatsifvthq eptpegdgsw isdsfspesq pgaralfdgd phlstenpal
     2281 vpdallasdt cldiseaafd hsfsdasgln tstgtiddms kltlseghpe tpvdgdlgkq
     2341 dicsseaswg dfeydvmgqn idedllrepe hflyggdppl eedslkqsla pytppfdlsy
     2401 ltepaqsaet ieeagspede slgcraaeiv lsalpdrrse gnqaetknrl pgsqlavlhi
     2461 redpesvylp vgagsnilsp snvdwevetd nsdlpaggdi gppngaskei seleeektip
     2521 tkepeqikse ykeerctekn edrhalhmdy ilvnreensh skpetceere siaelelyvg
     2581 sketglqgtq lasfpdtcqp aslnerkgls aekmssksdt rssfespaqd qswmflghse
     2641 vgdpsldard sgpgwsgktv epfselglge gpqlqileem kpleslalee asgpvsqsqk
     2701 sksrgragpd avtlqavthd newemlspqp vqknmipdte meeeteflel gtrisrpngl
     2761 lsedvgmdip feegvlspsa admrpeppns ldlndthprr ikltapninl sldqsegsil
     2821 sddnldspde idinvdeldt pdeadsfeyt ghdptankds gqesesipey taeeerednr
     2881 lwrtvvigeq eqridmkvie pyrrvishgg yygdglnaii vfaacflpds sradyhyvme
     2941 nlflyvistl elmvaedymi vylngatprr rmpglgwmkk cyqmidrrlr knlksfiivh
     3001 pswfirtila vtrpfisskf sskikyvnsl selsglipmd cihipesiik ldeelrease
     3061 aaktsclynd pemssmekdi dlklkekp
//
LOCUS       NP_057180                 76 aa            linear   PRI 25-MAR-2023
DEFINITION  zinc finger protein 706 [Homo sapiens].
ACCESSION   NP_057180 NP_001035976
VERSION     NP_057180.1
DBSOURCE    REFSEQ: accession NM_016096.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 76)
  AUTHORS   Dossena S, Gandini R, Tamma G, Vezzoli V, Nofziger C, Tamplenizza
            M, Salvioni E, Bernardinelli E, Meyer G, Valenti G, Wolf-Watz M,
            Furst J and Paulmichl M.
  TITLE     The molecular and functional interaction between ICln and HSPC038
            proteins modulates the regulation of cell volume
  JOURNAL   J Biol Chem 286 (47), 40659-40670 (2011)
   PUBMED   21917931
  REMARK    GeneRIF: functional interaction between ICln and HSPC038
REFERENCE   2  (residues 1 to 76)
  AUTHORS   McClay JL, Adkins DE, Aberg K, Bukszar J, Khachane AN, Keefe RS,
            Perkins DO, McEvoy JP, Stroup TS, Vann RE, Beardsley PM, Lieberman
            JA, Sullivan PF and van den Oord EJ.
  TITLE     Genome-wide pharmacogenomic study of neurocognition as an indicator
            of antipsychotic treatment response in schizophrenia
  JOURNAL   Neuropsychopharmacology 36 (3), 616-626 (2011)
   PUBMED   21107309
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001330.3 and AP003469.3.
            On Jun 13, 2012 this sequence version replaced NP_001035976.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 3, 4 and 5 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC068524.1, SRR18074968.3323056.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311212.9/ ENSP00000311768.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..76
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.3"
     Protein         1..76
                     /product="zinc finger protein 706"
                     /calculated_mol_wt=8367
     Region          1..32
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5V0.1)"
     Region          <41..>65
                     /region_name="zf-C2H2_12"
                     /note="Zinc-finger C2H2-type; pfam18658"
                     /db_xref="CDD:436652"
     Region          53..76
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5V0.1)"
     CDS             1..76
                     /gene="ZNF706"
                     /gene_synonym="HSPC038; PNAS-106; PNAS-113"
                     /coded_by="NM_016096.5:242..472"
                     /db_xref="CCDS:CCDS6291.1"
                     /db_xref="GeneID:51123"
                     /db_xref="HGNC:HGNC:24992"
                     /db_xref="MIM:619526"
ORIGIN      
        1 margqqkiqs qqknakkqag qkkkqghdqk aaakaaliyt ctvcrtqmpd pktfkqhfes
       61 khpktplppe ladvqa
//
LOCUS       NP_001341655             747 aa            linear   PRI 26-MAR-2023
DEFINITION  DNA repair protein complementing XP-C cells isoform 3 [Homo
            sapiens].
ACCESSION   NP_001341655
VERSION     NP_001341655.1
DBSOURCE    REFSEQ: accession NM_001354726.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 747)
  AUTHORS   Wong CT, Ona K and Oh DH.
  TITLE     Regulation of XPC Binding Dynamics and Global Nucleotide Excision
            Repair by p63 and Vitamin D Receptor
  JOURNAL   J Phys Chem B 127 (10), 2121-2127 (2023)
   PUBMED   36877866
  REMARK    GeneRIF: Regulation of XPC Binding Dynamics and Global Nucleotide
            Excision Repair by p63 and Vitamin D Receptor.
REFERENCE   2  (residues 1 to 747)
  AUTHORS   Chen S, Yin X, He Y, He Q, Li X, Yan M, Huang S, Lu J and Yang B.
  TITLE     Joint effects of polycyclic aromatic hydrocarbons, smoking, and XPC
            polymorphisms on damage in exon 2 of KRAS gene among young coke
            oven workers
  JOURNAL   Front Public Health 10, 945955 (2022)
   PUBMED   35991047
  REMARK    GeneRIF: Joint effects of polycyclic aromatic hydrocarbons,
            smoking, and XPC polymorphisms on damage in exon 2 of KRAS gene
            among young coke oven workers.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 747)
  AUTHORS   Wang J, Guan C, Sui J, Zang Y, Wu Y, Zhang R, Qi X and Piao S.
  TITLE     Association between polymorphisms rs2228001 and rs2228000 in XPC
            and genetic susceptibility to preeclampsia: a case control study
  JOURNAL   BMC Pregnancy Childbirth 21 (1), 787 (2021)
   PUBMED   34802422
  REMARK    GeneRIF: Association between polymorphisms rs2228001 and rs2228000
            in XPC and genetic susceptibility to preeclampsia: a case control
            study.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 747)
  AUTHORS   Kim M, Park J, Bouhaddou M, Kim K, Rojc A, Modak M, Soucheray M,
            McGregor MJ, O'Leary P, Wolf D, Stevenson E, Foo TK, Mitchell D,
            Herrington KA, Munoz DP, Tutuncuoglu B, Chen KH, Zheng F, Kreisberg
            JF, Diolaiti ME, Gordan JD, Coppe JP, Swaney DL, Xia B, van 't Veer
            L, Ashworth A, Ideker T and Krogan NJ.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   5  (residues 1 to 747)
  AUTHORS   Shivji MK, Eker AP and Wood RD.
  TITLE     DNA repair defect in xeroderma pigmentosum group C and
            complementing factor from HeLa cells
  JOURNAL   J Biol Chem 269 (36), 22749-22757 (1994)
   PUBMED   8077226
REFERENCE   6  (residues 1 to 747)
  AUTHORS   Legerski RJ, Liu P, Li L, Peterson CA, Zhao Y, Leach RJ, Naylor SL
            and Siciliano MJ.
  TITLE     Assignment of xeroderma pigmentosum group C (XPC) gene to
            chromosome 3p25
  JOURNAL   Genomics 21 (1), 266-269 (1994)
   PUBMED   8088800
REFERENCE   7  (residues 1 to 747)
  AUTHORS   Masutani C, Sugasawa K, Yanagisawa J, Sonoyama T, Ui M, Enomoto T,
            Takio K, Tanaka K, van der Spek PJ, Bootsma D et al.
  TITLE     Purification and cloning of a nucleotide excision repair complex
            involving the xeroderma pigmentosum group C protein and a human
            homologue of yeast RAD23
  JOURNAL   EMBO J 13 (8), 1831-1843 (1994)
   PUBMED   8168482
REFERENCE   8  (residues 1 to 747)
  AUTHORS   Kraemer,K.H., DiGiovanna,J.J. and Tamura,D.
  TITLE     Xeroderma Pigmentosum
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301571
REFERENCE   9  (residues 1 to 747)
  AUTHORS   Legerski,R. and Peterson,C.
  TITLE     Expression cloning of a human DNA repair gene involved in xeroderma
            pigmentosum group C
  JOURNAL   Nature 360 (6404), 610 (1992)
   PUBMED   1461286
  REMARK    Correction to:[Nature. 1992 Sep 3;359(6390):70-3. PMID: 1522891]
REFERENCE   10 (residues 1 to 747)
  AUTHORS   Legerski R and Peterson C.
  TITLE     Expression cloning of a human DNA repair gene involved in xeroderma
            pigmentosum group C
  JOURNAL   Nature 359 (6390), 70-73 (1992)
   PUBMED   1522891
  REMARK    Erratum:[Nature. 1992 Dec 10;360(6404):610. PMID: 1461286]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093495.2, FJ695192.1 and
            FJ695191.1.
            
            Summary: The protein encoded by this gene is a key component of the
            XPC complex, which plays an important role in the early steps of
            global genome nucleotide excision repair (NER). The encoded protein
            is important for damage sensing and DNA binding, and shows a
            preference for single-stranded DNA. Mutations in this gene or some
            other NER components can result in Xeroderma pigmentosum, a rare
            autosomal recessive disorder characterized by increased sensitivity
            to sunlight with the development of carcinomas at an early age.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Aug 2017].
            
            Transcript Variant: This variant (3) lacks an alternate exon
            compared to variant 1. The resulting isoform (3) is shorter at the
            N-terminus compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK311039.1, SRR18074968.2803569.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..747
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.1"
     Protein         1..747
                     /product="DNA repair protein complementing XP-C cells
                     isoform 3"
                     /note="DNA repair protein complementing XP-C cells; mutant
                     xeroderma pigmentosum group C; xeroderma pigmentosum,
                     complementation group C"
                     /calculated_mol_wt=84027
     Region          1..674
                     /region_name="rad4"
                     /note="DNA repair protein rad4; TIGR00605"
                     /db_xref="CDD:273170"
     CDS             1..747
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /coded_by="NM_001354726.2:489..2732"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:7508"
                     /db_xref="HGNC:HGNC:12816"
                     /db_xref="MIM:613208"
ORIGIN      
        1 mkrfnkgvhe dthkvhllcl langfyrnni csqpdlhaig lsiiparftr vlprdvdtyy
       61 lsnlvkwfig tftvnaelsa seqdnlqttl errfaiysar ddeelvhifl lilralqllt
      121 rlvlslqpip lksatakgkk pskerltadp ggssetssqv lenhtkpkts kgtkqeetfa
      181 kgtcrpsakg krnkggrkkr skpssseede gpgdkqekat qrrphgrerr vasrvsykee
      241 sgsdeagsgs dfelssgeas dpsdedsepg ppkqrkapap qrtkagsksa srthrgshrk
      301 dpslpaasss sssskrgkkm csdgekaekr siagidqwle vfceqeekwv cvdcvhgvvg
      361 qpltcykyat kpmtyvvgid sdgwvrdvtq rydpvwmtvt rkcrvdaeww aetlrpyqsp
      421 fmdrekkedl efqakhmdqp lptaiglykn hplyalkrhl lkyeaiypet aailgycrge
      481 avysrdcvht lhsrdtwlkk arvvrlgevp ykmvkgfsnr arkarlaepq lreendlglf
      541 gywqteeyqp pvavdgkvpr nefgnvylfl psmmpigcvq lnlpnlhrva rkldidcvqa
      601 itgfdfhggy shpvtdgyiv ceefkdvllt aweneqavie rkekekkekr algnwkllak
      661 gllirerlkr rygpkseaaa phtdagggls sdeeegtssq aeaarilaas wpqnredeek
      721 qklkggpkkt krekkaaash lfpfeql
//
LOCUS       NP_001107593             476 aa            linear   PRI 26-MAR-2023
DEFINITION  serine/threonine-protein kinase Chk1 isoform 1 [Homo sapiens].
ACCESSION   NP_001107593
VERSION     NP_001107593.1
DBSOURCE    REFSEQ: accession NM_001114121.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 476)
  AUTHORS   Alorjani M, Aburub M, Al-Trad B, Hamad MA, AbuAlarja M, Bashir SA,
            Al-Batayneh K and Zoubi MA.
  TITLE     The Prevalence of CHEK1 and CHEK2 Mutations in Prostate Cancer: a
            Retrospective Cohort Study
  JOURNAL   Med Arch 77 (1), 8-12 (2023)
   PUBMED   36919124
  REMARK    GeneRIF: The Prevalence of CHEK1 and CHEK2 Mutations in Prostate
            Cancer: a Retrospective Cohort Study.
REFERENCE   2  (residues 1 to 476)
  AUTHORS   Hsiao HW, Yang CC and Masai H.
  TITLE     Claspin-Dependent and -Independent Chk1 Activation by a Panel of
            Biological Stresses
  JOURNAL   Biomolecules 13 (1), 125 (2023)
   PUBMED   36671510
  REMARK    GeneRIF: Claspin-Dependent and -Independent Chk1 Activation by a
            Panel of Biological Stresses.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 476)
  AUTHORS   Lee S, Jee HY, Lee YG, Shin JI, Jeon YJ, Kim JB, Seo HE, Lee JY and
            Lee K.
  TITLE     PKR-Mediated Phosphorylation of eIF2a and CHK1 Is Associated with
            Doxorubicin-Mediated Apoptosis in HCC1143 Triple-Negative Breast
            Cancer Cells
  JOURNAL   Int J Mol Sci 23 (24), 15872 (2022)
   PUBMED   36555509
  REMARK    GeneRIF: PKR-Mediated Phosphorylation of eIF2a and CHK1 Is
            Associated with Doxorubicin-Mediated Apoptosis in HCC1143
            Triple-Negative Breast Cancer Cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 476)
  AUTHORS   Chen J, Sun M, Chen C, Jiang B and Fang Y.
  TITLE     Identification of hub genes and their correlation with infiltration
            of immune cells in MYCN positive neuroblastoma based on WGCNA and
            LASSO algorithm
  JOURNAL   Front Immunol 13, 1016683 (2022)
   PUBMED   36311753
  REMARK    GeneRIF: Identification of hub genes and their correlation with
            infiltration of immune cells in MYCN positive neuroblastoma based
            on WGCNA and LASSO algorithm.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 476)
  AUTHORS   Paukovcekova S, Krchniakova M, Chlapek P, Neradil J, Skoda J and
            Veselska R.
  TITLE     Thiosemicarbazones Can Act Synergistically with Anthracyclines to
            Downregulate CHEK1 Expression and Induce DNA Damage in Cell Lines
            Derived from Pediatric Solid Tumors
  JOURNAL   Int J Mol Sci 23 (15), 8549 (2022)
   PUBMED   35955683
  REMARK    GeneRIF: Thiosemicarbazones Can Act Synergistically with
            Anthracyclines to Downregulate CHEK1 Expression and Induce DNA
            Damage in Cell Lines Derived from Pediatric Solid Tumors.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 476)
  AUTHORS   Ouyang B, Li W, Pan H, Meadows J, Hoffmann I and Dai W.
  TITLE     The physical association and phosphorylation of Cdc25C protein
            phosphatase by Prk
  JOURNAL   Oncogene 18 (44), 6029-6036 (1999)
   PUBMED   10557092
REFERENCE   7  (residues 1 to 476)
  AUTHORS   Giaccia AJ and Kastan MB.
  TITLE     The complexity of p53 modulation: emerging patterns from divergent
            signals
  JOURNAL   Genes Dev 12 (19), 2973-2983 (1998)
   PUBMED   9765199
  REMARK    Review article
REFERENCE   8  (residues 1 to 476)
  AUTHORS   Flaggs G, Plug AW, Dunks KM, Mundt KE, Ford JC, Quiggle MR, Taylor
            EM, Westphal CH, Ashley T, Hoekstra MF and Carr AM.
  TITLE     Atm-dependent interactions of a mammalian chk1 homolog with meiotic
            chromosomes
  JOURNAL   Curr Biol 7 (12), 977-986 (1997)
   PUBMED   9382850
REFERENCE   9  (residues 1 to 476)
  AUTHORS   Peng CY, Graves PR, Thoma RS, Wu Z, Shaw AS and Piwnica-Worms H.
  TITLE     Mitotic and G2 checkpoint control: regulation of 14-3-3 protein
            binding by phosphorylation of Cdc25C on serine-216
  JOURNAL   Science 277 (5331), 1501-1505 (1997)
   PUBMED   9278512
REFERENCE   10 (residues 1 to 476)
  AUTHORS   Sanchez Y, Wong C, Thoma RS, Richman R, Wu Z, Piwnica-Worms H and
            Elledge SJ.
  TITLE     Conservation of the Chk1 checkpoint pathway in mammals: linkage of
            DNA damage to Cdk regulation through Cdc25
  JOURNAL   Science 277 (5331), 1497-1501 (1997)
   PUBMED   9278511
  REMARK    GeneRIF: Biochemical studies suggest the functional interactions of
            this protein with cell cycle regulators. Cdc25A, Cdc25B, and Cdc25C
            can be phosphoryalted by this protein.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX419129.2, AW149126.1,
            CA868104.1, AK300082.1, DA567616.1, BC004202.2 and CA441277.1.
            
            Summary: The protein encoded by this gene belongs to the Ser/Thr
            protein kinase family. It is required for checkpoint mediated cell
            cycle arrest in response to DNA damage or the presence of
            unreplicated DNA. This protein acts to integrate signals from ATM
            and ATR, two cell cycle proteins involved in DNA damage responses,
            that also associate with chromatin in meiotic prophase I.
            Phosphorylation of CDC25A protein phosphatase by this protein is
            required for cells to delay cell cycle progression in response to
            double-strand DNA breaks. Several alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Oct
            2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC004202.2, SRR5189667.185409.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..476
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     Protein         1..476
                     /product="serine/threonine-protein kinase Chk1 isoform 1"
                     /EC_number="2.7.11.1"
                     /note="Checkpoint, S. pombe, homolog of, 1;
                     serine/threonine-protein kinase Chk1; CHK1 checkpoint
                     homolog; cell cycle checkpoint kinase; Chk1-S"
                     /calculated_mol_wt=54303
     Region          1..265
                     /region_name="Interaction with CLSPN.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (O14757.2)"
     Region          7..265
                     /region_name="STKc_Chk1"
                     /note="Catalytic domain of the Serine/Threonine kinase,
                     Checkpoint kinase 1; cd14069"
                     /db_xref="CDD:270971"
     Site            order(15..19,23,36,38,68,84..87,91,93,129..130,132,
                     134..135,137,147..148,151,168..172,174)
                     /site_type="active"
                     /db_xref="CDD:270971"
     Site            order(15..18,23,36,38,68,84..87,91,134..135,137,147..148)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270971"
     Site            order(19,91,93,129..130,132,134,151,168..172,174)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270971"
     Site            order(93..94,96..98,133,173,200,204..206)
                     /site_type="other"
                     /note="allosteric inhibitor binding site [chemical
                     binding]"
                     /db_xref="CDD:270971"
     Site            147..172
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270971"
     Region          270..327
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14757.2)"
     Site            280
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14757.2)"
     Site            286
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O14757.2)"
     Site            296
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15707391,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O14757.2)"
     Site            301
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O14757.2)"
     Site            317
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM and ATR.
                     /evidence=ECO:0000269|PubMed:11390642,
                     ECO:0000269|PubMed:12446774, ECO:0000269|PubMed:12588868,
                     ECO:0000269|PubMed:12660173, ECO:0000269|PubMed:12676583,
                     ECO:0000269|PubMed:12676962, ECO:0000269|PubMed:14657349,
                     ECO:0000269|PubMed:15707391, ECO:0000269|PubMed:15870257;
                     propagated from UniProtKB/Swiss-Prot (O14757.2)"
     Site            331
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14757.2)"
     Site            345
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM and ATR.
                     /evidence=ECO:0000269|PubMed:10859164,
                     ECO:0000269|PubMed:11390642, ECO:0000269|PubMed:12446774,
                     ECO:0000269|PubMed:12676583, ECO:0000269|PubMed:12676925,
                     ECO:0000269|PubMed:12676962, ECO:0000269|PubMed:14681223,
                     ECO:0000269|PubMed:14988723, ECO:0000269|PubMed:15650047,
                     ECO:0000269|PubMed:15707391, ECO:0000269|PubMed:15870257,
                     ECO:0000269|PubMed:19716789, ECO:0000269|PubMed:31316063;
                     propagated from UniProtKB/Swiss-Prot (O14757.2)"
     Region          391..476
                     /region_name="Autoinhibitory region"
                     /note="propagated from UniProtKB/Swiss-Prot (O14757.2)"
     Site            467
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14757.2)"
     Site            468
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14757.2)"
     CDS             1..476
                     /gene="CHEK1"
                     /gene_synonym="CHK1"
                     /coded_by="NM_001114121.2:898..2328"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS8459.1"
                     /db_xref="GeneID:1111"
                     /db_xref="HGNC:HGNC:1925"
                     /db_xref="MIM:603078"
ORIGIN      
        1 mavpfvedwd lvqtlgegay gevqlavnrv teeavavkiv dmkravdcpe nikkeicink
       61 mlnhenvvkf yghrregniq ylfleycsgg elfdriepdi gmpepdaqrf fhqlmagvvy
      121 lhgigithrd ikpenlllde rdnlkisdfg latvfrynnr erllnkmcgt lpyvapellk
      181 rrefhaepvd vwscgivlta mlagelpwdq psdscqeysd wkekktylnp wkkidsapla
      241 llhkilvenp saritipdik kdrwynkplk kgakrprvts ggvsespsgf skhiqsnldf
      301 spvnsassee nvkysssqpe prtglslwdt spsyidklvq gisfsqptcp dhmllnsqll
      361 gtpgssqnpw qrlvkrmtrf ftkldadksy qclketcekl gyqwkkscmn qvtisttdrr
      421 nnklifkvnl lemddkilvd frlskgdgle fkrhflkikg klidivssqk iwlpat
//
LOCUS       NP_078613                391 aa            linear   PRI 28-MAR-2023
DEFINITION  protein Wnt-2b isoform WNT-2B2 [Homo sapiens].
ACCESSION   NP_078613
VERSION     NP_078613.1
DBSOURCE    REFSEQ: accession NM_024494.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 391)
  AUTHORS   Xiao S, Cheng Y, Zhu Y, Tang R, Gu J, Lan L, He Z, Liu D, Geng L,
            Cheng Y and Gong S.
  TITLE     [Fibroblasts overpressing WNT2b cause impairment of intestinal
            mucosal barrier]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 43 (2), 206-212 (2023)
   PUBMED   36946039
  REMARK    GeneRIF: [Fibroblasts overpressing WNT2b cause impairment of
            intestinal mucosal barrier].
REFERENCE   2  (residues 1 to 391)
  AUTHORS   Wang W and Lu H.
  TITLE     High Glucose-Induced Human Kidney Cell Apoptosis and Inflammatory
            Injury Are Alleviated by Circ_0008529 Knockdown via
            Circ_0008529-Mediated miR-485-5p/WNT2B Signaling
  JOURNAL   Appl Biochem Biotechnol 194 (12), 6287-6301 (2022)
   PUBMED   35913598
  REMARK    GeneRIF: High Glucose-Induced Human Kidney Cell Apoptosis and
            Inflammatory Injury Are Alleviated by Circ_0008529 Knockdown via
            Circ_0008529-Mediated miR-485-5p/WNT2B Signaling.
REFERENCE   3  (residues 1 to 391)
  AUTHORS   Sumitomo R, Huang CL, Ando H, Ishida T, Cho H and Date H.
  TITLE     Wnt2b and Wnt5a expression is highly associated with M2 TAMs in
            non-small cell lung cancer
  JOURNAL   Oncol Rep 48 (5) (2022)
   PUBMED   36102318
  REMARK    GeneRIF: Wnt2b and Wnt5a expression is highly associated with M2
            TAMs in nonsmall cell lung cancer.
REFERENCE   4  (residues 1 to 391)
  AUTHORS   Li J, Min Y and Zhao Q.
  TITLE     Circ_0000064 knockdown attenuates high glucose-induced
            proliferation, inflammation and extracellular matrix deposition of
            mesangial cells through miR-424-5p-mediated WNT2B inhibition in
            cell models of diabetic nephropathy
  JOURNAL   Clin Exp Nephrol 26 (10), 943-954 (2022)
   PUBMED   35678923
  REMARK    GeneRIF: Circ_0000064 knockdown attenuates high glucose-induced
            proliferation, inflammation and extracellular matrix deposition of
            mesangial cells through miR-424-5p-mediated WNT2B inhibition in
            cell models of diabetic nephropathy.
REFERENCE   5  (residues 1 to 391)
  AUTHORS   Tang T, Rector K, Barnett CD and Mao CD.
  TITLE     Upstream open reading frames regulate the expression of the nuclear
            Wnt13 isoforms
  JOURNAL   Biochem Biophys Res Commun 366 (4), 1081-1088 (2008)
   PUBMED   18155664
REFERENCE   6  (residues 1 to 391)
  AUTHORS   Katoh M, Kirikoshi H, Saitoh T, Sagara N and Koike J.
  TITLE     Alternative splicing of the WNT-2B/WNT-13 gene
  JOURNAL   Biochem Biophys Res Commun 275 (1), 209-216 (2000)
   PUBMED   10944466
REFERENCE   7  (residues 1 to 391)
  AUTHORS   Van Den Berg DJ, Sharma AK, Bruno E and Hoffman R.
  TITLE     Role of members of the Wnt gene family in human hematopoiesis
  JOURNAL   Blood 92 (9), 3189-3202 (1998)
   PUBMED   9787155
REFERENCE   8  (residues 1 to 391)
  AUTHORS   Bergstein I, Eisenberg LM, Bhalerao J, Jenkins NA, Copeland NG,
            Osborne MP, Bowcock AM and Brown AM.
  TITLE     Isolation of two novel WNT genes, WNT14 and WNT15, one of which
            (WNT15) is closely linked to WNT3 on human chromosome 17q21
  JOURNAL   Genomics 46 (3), 450-458 (1997)
   PUBMED   9441749
REFERENCE   9  (residues 1 to 391)
  AUTHORS   Katoh M, Hirai M, Sugimura T and Terada M.
  TITLE     Cloning, expression and chromosomal localization of Wnt-13, a novel
            member of the Wnt gene family
  JOURNAL   Oncogene 13 (4), 873-876 (1996)
   PUBMED   8761309
REFERENCE   10 (residues 1 to 391)
  AUTHORS   Smolich BD, McMahon JA, McMahon AP and Papkoff J.
  TITLE     Wnt family proteins are secreted and associated with the cell
            surface
  JOURNAL   Mol Biol Cell 4 (12), 1267-1275 (1993)
   PUBMED   8167409
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC141825.1 and AL109932.15.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the wingless-type MMTV
            integration site (WNT) family of highly conserved, secreted
            signaling factors. WNT family members function in a variety of
            developmental processes including regulation of cell growth and
            differentiation and are characterized by a WNT-core domain. This
            gene may play a role in human development as well as
            carcinogenesis. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, May 2014].
            
            Transcript Variant: This variant (WNT-2B2) represents the shortest
            transcript and encodes the longest isoform (WNT-2B2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC141825.1, SRR1803616.108706.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369684.5/ ENSP00000358698.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..391
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     Protein         1..391
                     /product="protein Wnt-2b isoform WNT-2B2"
                     /note="XWNT2, Xenopus, homolog of; wingless-type MMTV
                     integration site family, member 13; protein Wnt-2b;
                     wingless-type MMTV integration site family, member 2B"
                     /calculated_mol_wt=43639
     Region          67..380
                     /region_name="Wnt_Wnt2b"
                     /note="Wnt domain found in protein Wnt-2b and similar
                     proteins; cd19346"
                     /db_xref="CDD:381720"
     Region          107..379
                     /region_name="WNT-core domain"
     Site            117
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:18780401; propagated from
                     UniProtKB/Swiss-Prot (Q93097.2)"
     Site            order(238..239,242..244,252,359,361,363,365)
                     /site_type="other"
                     /note="Frizzled receptor binding site [polypeptide
                     binding]"
                     /db_xref="CDD:381720"
     Site            283
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:18780401; propagated from
                     UniProtKB/Swiss-Prot (Q93097.2)"
     CDS             1..391
                     /gene="WNT2B"
                     /gene_synonym="WNT13"
                     /coded_by="NM_024494.3:299..1474"
                     /note="isoform WNT-2B2 is encoded by transcript variant
                     WNT-2B2"
                     /db_xref="CCDS:CCDS847.1"
                     /db_xref="GeneID:7482"
                     /db_xref="HGNC:HGNC:12781"
                     /db_xref="MIM:601968"
ORIGIN      
        1 mlrpggaeea aqlplrrasa pvpvpspaap dgsrasarlg laclllllll tlparvdtsw
       61 wyigalgarv icdnipglvs rqrqlcqryp dimrsvgega rewirecqhq frhhrwnctt
      121 ldrdhtvfgr vmlrssreaa fvyaissagv vhaitracsq gelsvcscdp ytrgrhhdqr
      181 gdfdwggcsd nihygvrfak afvdakekrl kdaralmnlh nnrcgrtavr rflkleckch
      241 gvsgsctlrt cwralsdfrr tgdylrrryd gavqvmatqd ganftaarqg yrratrtdlv
      301 yfdnspdycv ldkaagslgt agrvcsktsk gtdgceimcc grgydttrvt rvtqceckfh
      361 wccavrckec rntvdvhtck apkkaewldq t
//
LOCUS       NP_001374770             587 aa            linear   PRI 05-APR-2023
DEFINITION  CCR4-NOT transcription complex subunit 6-like isoform 5 [Homo
            sapiens].
ACCESSION   NP_001374770
VERSION     NP_001374770.1
DBSOURCE    REFSEQ: accession NM_001387841.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 587)
  AUTHORS   Zheng W, Sha QQ, Hu H, Meng F, Zhou Q, Chen X, Zhang S, Gu Y, Yan
            X, Zhao L, Zong Y, Hu L, Gong F, Lu G, Fan HY and Lin G.
  TITLE     Biallelic variants in ZFP36L2 cause female infertility
            characterised by recurrent preimplantation embryo arrest
  JOURNAL   J Med Genet 59 (9), 850-857 (2022)
   PUBMED   34611029
REFERENCE   2  (residues 1 to 587)
  AUTHORS   Katsumura S, Siddiqui N, Goldsmith MR, Cheah JH, Fujikawa T,
            Minegishi G, Yamagata A, Yabuki Y, Kobayashi K, Shirouzu M, Inagaki
            T, Huang TH, Musi N, Topisirovic I, Larsson O and Morita M.
  TITLE     Deadenylase-dependent mRNA decay of GDF15 and FGF21 orchestrates
            food intake and energy expenditure
  JOURNAL   Cell Metab 34 (4), 564-580 (2022)
   PUBMED   35385705
  REMARK    GeneRIF: Deadenylase-dependent mRNA decay of GDF15 and FGF21
            orchestrates food intake and energy expenditure.
REFERENCE   3  (residues 1 to 587)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 587)
  AUTHORS   Singh P, James RS, Mee CJ and Morozov IY.
  TITLE     mRNA levels are buffered upon knockdown of RNA decay and
            translation factors via adjustment of transcription rates in human
            HepG2 cells
  JOURNAL   RNA Biol 16 (9), 1147-1155 (2019)
   PUBMED   31116665
  REMARK    GeneRIF: We show that knockdown of human XRN1, CNOT6 and ETF1 genes
            in HepG2 cells led to significant alteration in stability of
            specific mRNAs, alterations in half-life were inversely associated
            with transcription rates, mostly not resulting in changes in
            abundance
REFERENCE   5  (residues 1 to 587)
  AUTHORS   Raisch T, Chang CT, Levdansky Y, Muthukumar S, Raunser S and Valkov
            E.
  TITLE     Reconstitution of recombinant human CCR4-NOT reveals molecular
            insights into regulated deadenylation
  JOURNAL   Nat Commun 10 (1), 3173 (2019)
   PUBMED   31320642
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 587)
  AUTHORS   Naylor MG, Weiss ST and Lange C.
  TITLE     A Bayesian approach to genetic association studies with
            family-based designs
  JOURNAL   Genet Epidemiol 34 (6), 569-574 (2010)
   PUBMED   20818722
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (residues 1 to 587)
  AUTHORS   Wang H, Morita M, Yang X, Suzuki T, Yang W, Wang J, Ito K, Wang Q,
            Zhao C, Bartlam M, Yamamoto T and Rao Z.
  TITLE     Crystal structure of the human CNOT6L nuclease domain reveals
            strict poly(A) substrate specificity
  JOURNAL   EMBO J 29 (15), 2566-2576 (2010)
   PUBMED   20628353
  REMARK    GeneRIF: show that the nuclease domain of CNOT6L exhibits full
            Mg(2+)-dependent deadenylase activity with strict poly(A) RNA
            substrate specificity.
REFERENCE   8  (residues 1 to 587)
  AUTHORS   Lau NC, Kolkman A, van Schaik FM, Mulder KW, Pijnappel WW, Heck AJ
            and Timmers HT.
  TITLE     Human Ccr4-Not complexes contain variable deadenylase subunits
  JOURNAL   Biochem J 422 (3), 443-453 (2009)
   PUBMED   19558367
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 587)
  AUTHORS   Miyasaka T, Morita M, Ito K, Suzuki T, Fukuda H, Takeda S, Inoue J,
            Semba K and Yamamoto T.
  TITLE     Interaction of antiproliferative protein Tob with the CCR4-NOT
            deadenylase complex
  JOURNAL   Cancer Sci 99 (4), 755-761 (2008)
   PUBMED   18377426
REFERENCE   10 (residues 1 to 587)
  AUTHORS   Morita M, Suzuki T, Nakamura T, Yokoyama K, Miyasaka T and Yamamoto
            T.
  TITLE     Depletion of mammalian CCR4b deadenylase triggers elevation of the
            p27Kip1 mRNA level and impairs cell growth
  JOURNAL   Mol Cell Biol 27 (13), 4980-4990 (2007)
   PUBMED   17452450
  REMARK    GeneRIF: CCR4b may be involved in various cellular events that
            include cell proliferation.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104701.5.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.208901.1,
                                           SRR14038195.946797.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..587
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.1"
     Protein         1..587
                     /product="CCR4-NOT transcription complex subunit 6-like
                     isoform 5"
                     /EC_number="3.1.13.4"
                     /note="carbon catabolite repressor protein 4 homolog B"
                     /calculated_mol_wt=66319
     Region          38..57
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          <57..>183
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:227223"
     Region          58..80
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          81..95
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275378"
     Region          191..570
                     /region_name="Deadenylase_CCR4b"
                     /note="C-terminal deadenylase domain of CCR4b, also known
                     as CCR4-NOT transcription complex subunit 6-like; cd10312"
                     /db_xref="CDD:197339"
     Site            order(195,240,392,395,397,403,442,444,446,511,516,
                     520..521,561)
                     /site_type="active"
                     /db_xref="CDD:197339"
     Site            order(195,240,392,395,397,403,442,444,446,511,516,520,561)
                     /site_type="other"
                     /note="poly(A) RNA binding site [nucleotide binding]"
                     /db_xref="CDD:197339"
     Site            order(195,240,392,442,444,521,560..561)
                     /site_type="active"
                     /note="putative catalytic site [active]"
                     /db_xref="CDD:197339"
     Site            order(195,240,560)
                     /site_type="other"
                     /note="Mg binding site A [ion binding]"
                     /db_xref="CDD:197339"
     Site            order(392,444,561)
                     /site_type="other"
                     /note="putative phosphate binding site [ion binding]"
                     /db_xref="CDD:197339"
     Site            order(442,444,561)
                     /site_type="other"
                     /note="Mg binding site B [ion binding]"
                     /db_xref="CDD:197339"
     CDS             1..587
                     /gene="CNOT6L"
                     /gene_synonym="CCR4b"
                     /coded_by="NM_001387841.1:132..1895"
                     /note="isoform 5 is encoded by transcript variant 11"
                     /db_xref="GeneID:246175"
                     /db_xref="HGNC:HGNC:18042"
                     /db_xref="MIM:618069"
ORIGIN      
        1 mrligmpkek ydppdprriy timsaeevan gkkshwaele isgrvrslst slwslthlta
       61 lhlndnylsr ippdiaklhn lvyldlssnk lrslpaelgn mvslrellln nnllrvlpye
      121 lgrlfqlqtl glkgnplsqd ilnlyqdpdg trkllnfmld nlavhpeqlp prpwitlker
      181 dqilpsasft vmcynvlcdk yatrqlygyc pswalnweyr kkgimeeivn cdadiislqe
      241 veteqyftlf lpalkergyd gffspksrak imseqerkhv dgcaiffkte kdgvllccpr
      301 lvlnswvqai hppqpptvlg lqtftlvqkh tvefnqvama nsdgseamln rvmtkdnigv
      361 avvlevhkel fgagmkpiha adkqllivan ahmhwdpeys dvkliqtmmf vsevknilek
      421 assrpgspta dpnsiplvlc adlnslpdsg vveylsnggv adnhkdfkel ryneclmnfs
      481 cngkngsseg rithgfqlks ayennlmpyt nytfdfkgvi dyifyskthm nvlgvlgpld
      541 pqwlvennit gcphphipsd hfslltqlel hppllplvng vhlpnrr
//
LOCUS       NP_001361173             806 aa            linear   PRI 10-APR-2023
DEFINITION  serine/threonine-protein kinase B-raf isoform 3 [Homo sapiens].
ACCESSION   NP_001361173
VERSION     NP_001361173.1
DBSOURCE    REFSEQ: accession NM_001374244.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 806)
  AUTHORS   Jasmine F, Aschebrook-Kilfoy B, Rahman MM, Zaagman G, Grogan RH,
            Kamal M, Ahsan H and Kibriya MG.
  TITLE     Association of DNA Promoter Methylation and BRAF Mutation in
            Thyroid Cancer
  JOURNAL   Curr Oncol 30 (3), 2978-2996 (2023)
   PUBMED   36975440
  REMARK    GeneRIF: Association of DNA Promoter Methylation and BRAF Mutation
            in Thyroid Cancer.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 806)
  AUTHORS   Morafraile EC, Saiz-Ladera C, Nieto-Jimenez C, Gyorffy B, Nagy A,
            Velasco G, Perez-Segura P and Ocana A.
  TITLE     Mapping Immune Correlates and Surfaceome Genes in BRAF Mutated
            Colorectal Cancers
  JOURNAL   Curr Oncol 30 (3), 2569-2581 (2023)
   PUBMED   36975409
  REMARK    GeneRIF: Mapping Immune Correlates and Surfaceome Genes in BRAF
            Mutated Colorectal Cancers.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 806)
  AUTHORS   Danishevich AM, Pospehova NI, Stroganova AM, Golovina DA, Nikulin
            MP, Kalinin AE, Nikolaev SE, Stilidi IS and Lyubchenko LN.
  TITLE     [Landscape of KRAS, BRAF, and PIK3CA Mutations and Clinical
            Features of EBV-Associated and Microsatellite Unstable Gastric
            Cancer]
  JOURNAL   Mol Biol (Mosk) 57 (1), 71-84 (2023)
   PUBMED   36976740
  REMARK    GeneRIF: [Landscape of KRAS, BRAF, and PIK3CA Mutations and
            Clinical Features of EBV-Associated and Microsatellite Unstable
            Gastric Cancer].
REFERENCE   4  (residues 1 to 806)
  AUTHORS   Gripp,K.W. and Rauen,K.A.
  TITLE     Costello Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301680
REFERENCE   5  (residues 1 to 806)
  AUTHORS   Gelb,B.D. and Tartaglia,M.
  TITLE     Noonan Syndrome with Multiple Lentigines
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301557
REFERENCE   6  (residues 1 to 806)
  AUTHORS   Rauen,K.A.
  TITLE     Cardiofaciocutaneous Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301365
REFERENCE   7  (residues 1 to 806)
  AUTHORS   Roberts,A.E.
  TITLE     Noonan Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301303
REFERENCE   8  (residues 1 to 806)
  AUTHORS   Stephens RM, Sithanandam G, Copeland TD, Kaplan DR, Rapp UR and
            Morrison DK.
  TITLE     95-kilodalton B-Raf serine/threonine kinase: identification of the
            protein and its major autophosphorylation site
  JOURNAL   Mol Cell Biol 12 (9), 3733-3742 (1992)
   PUBMED   1508179
REFERENCE   9  (residues 1 to 806)
  AUTHORS   Eychene A, Barnier JV, Apiou F, Dutrillaux B and Calothy G.
  TITLE     Chromosomal assignment of two human B-raf(Rmil) proto-oncogene
            loci: B-raf-1 encoding the p94Braf/Rmil and B-raf-2, a processed
            pseudogene
  JOURNAL   Oncogene 7 (8), 1657-1660 (1992)
   PUBMED   1630826
REFERENCE   10 (residues 1 to 806)
  AUTHORS   Sithanandam G, Druck T, Cannizzaro LA, Leuzzi G, Huebner K and Rapp
            UR.
  TITLE     B-raf and a B-raf pseudogene are located on 7q in man
  JOURNAL   Oncogene 7 (4), 795-799 (1992)
   PUBMED   1565476
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006006.2, AC006347.2 and
            AC006344.2.
            
            Summary: This gene encodes a protein belonging to the RAF family of
            serine/threonine protein kinases. This protein plays a role in
            regulating the MAP kinase/ERK signaling pathway, which affects cell
            division, differentiation, and secretion. Mutations in this gene,
            most commonly the V600E mutation, are the most frequently
            identified cancer-causing mutations in melanoma, and have been
            identified in various other cancers as well, including non-Hodgkin
            lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung
            carcinoma, hairy cell leukemia and adenocarcinoma of lung.
            Mutations in this gene are also associated with
            cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit
            overlapping phenotypes. A pseudogene of this gene has been
            identified on the X chromosome. [provided by RefSeq, Aug 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..806
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     Protein         1..806
                     /product="serine/threonine-protein kinase B-raf isoform 3"
                     /EC_number="2.7.11.1"
                     /note="serine/threonine-protein kinase B-raf; B-Raf
                     serine/threonine-protein; B-Raf proto-oncogene
                     serine/threonine-protein kinase (p94); murine sarcoma
                     viral (v-raf) oncogene homolog B1; v-raf murine sarcoma
                     viral oncogene homolog B1; 94 kDa B-raf protein;
                     proto-oncogene B-Raf"
                     /calculated_mol_wt=88916
     Region          154..232
                     /region_name="RBD_BRAF"
                     /note="Ras-binding domain (RBD) found in
                     serine/threonine-protein kinase BRAF; cd17134"
                     /db_xref="CDD:340654"
     Site            order(156,158,163..168,170,183,187..189)
                     /site_type="other"
                     /note="putative RBD_Raf-Ras interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:340654"
     Site            order(156,163,165..168,183,186..189)
                     /site_type="other"
                     /note="putative RBD_Raf-KRas interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:340654"
     Site            order(174..176,196,198..199,206..209,211..213,216,225,
                     227..228,230..232)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:340654"
     Site            221
                     /site_type="other"
                     /note="putative Ca binding site [ion binding]"
                     /db_xref="CDD:340654"
     Region          230..289
                     /region_name="C1_B-Raf"
                     /note="protein kinase C conserved region 1 (C1 domain)
                     found in B-Raf (Rapidly Accelerated Fibrosarcoma) kinase
                     and similar proteins; cd20871"
                     /db_xref="CDD:410421"
     Region          503..755
                     /region_name="STKc_Raf"
                     /note="Catalytic domain of the Serine/Threonine Kinases,
                     Raf (Rapidly Accelerated Fibrosarcoma) kinases; cd14062"
                     /db_xref="CDD:270964"
     Site            order(503..507,511,521,523,554,569..572,576,578,616,618,
                     620..621,623,634,637,655..658)
                     /site_type="active"
                     /db_xref="CDD:270964"
     Site            order(503..507,511,521,523,554,569..572,576,616,618,
                     620..621,623,634)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:270964"
     Site            order(507,576,578,616,618,620,637,655..658)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:270964"
     Site            order(515,517..518,545..551,555..557,602,605..606,
                     609..610,626,628,755)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:270964"
     Site            order(633..646,652..658)
                     /site_type="other"
                     /note="activation loop (A-loop)"
                     /db_xref="CDD:270964"
     CDS             1..806
                     /gene="BRAF"
                     /gene_synonym="B-raf; B-RAF1; BRAF-1; BRAF1; NS7; RAFB1"
                     /coded_by="NM_001374244.1:227..2647"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS94218.1"
                     /db_xref="GeneID:673"
                     /db_xref="HGNC:HGNC:1097"
                     /db_xref="MIM:164757"
ORIGIN      
        1 maalsggggg gaepgqalfn gdmepeagag agaaassaad paipeevwni kqmikltqeh
       61 iealldkfgg ehnppsiyle ayeeytskld alqqreqqll eslgngtdfs vsssasmdtv
      121 tsssssslsv lpsslsvfqn ptdvarsnpk spqkpivrvf lpnkqrtvvp arcgvtvrds
      181 lkkalmmrgl ipeccavyri qdgekkpigw dtdiswltge elhvevlenv pltthnfvrk
      241 tfftlafcdf crkllfqgfr cqtcgykfhq rcstevplmc vnydqldllf vskffehhpi
      301 pqeeaslaet altsgsspsa pasdsigpqi ltspspsksi pipqpfrpad edhrnqfgqr
      361 drsssapnvh intiepvnid dlirdqgfrg dgaplnqlmr clrkyqsrtp spllhsvpse
      421 ivfdfepgpv frgsttglsa tppaslpgsl tnvkalqksp gpqrerksss ssedrnrmkt
      481 lgrrdssddw eipdgqitvg qrigsgsfgt vykgkwhgdv avkmlnvtap tpqqlqafkn
      541 evgvlrktrh vnillfmgys tkpqlaivtq wcegsslyhh lhiietkfem iklidiarqt
      601 aqgmdylhak siihrdlksn niflhedltv kigdfglatv ksrwsgshqf eqlsgsilwm
      661 apevirmqdk npysfqsdvy afgivlyelm tgqlpysnin nrdqiifmvg rgylspdlsk
      721 vrsncpkamk rlmaeclkkk rderplfpqi lasiellars lpkihrsase pslnragfqt
      781 edfslyacas pktpiqaggy gafpvh
//
LOCUS       NP_001265842             643 aa            linear   PRI 17-APR-2023
DEFINITION  elastin isoform g precursor [Homo sapiens].
ACCESSION   NP_001265842
VERSION     NP_001265842.1
DBSOURCE    REFSEQ: accession NM_001278913.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 643)
  AUTHORS   Krarup NT, Hvidbjerg M, Zaremba T, Sommerlund M and Christensen MK.
  TITLE     Autosomal dominant cutis laxa and critical stenosis of the left
            main coronary artery in a 21-year-old female with an intronic
            mutation in the elastin gene
  JOURNAL   Am J Med Genet A 191 (4), 1059-1064 (2023)
   PUBMED   36541930
  REMARK    GeneRIF: Autosomal dominant cutis laxa and critical stenosis of the
            left main coronary artery in a 21-year-old female with an intronic
            mutation in the elastin gene.
REFERENCE   2  (residues 1 to 643)
  AUTHORS   Trebacz H and Barzycka A.
  TITLE     Mechanical Properties and Functions of Elastin: An Overview
  JOURNAL   Biomolecules 13 (3), 574 (2023)
   PUBMED   36979509
  REMARK    GeneRIF: Mechanical Properties and Functions of Elastin: An
            Overview.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 643)
  AUTHORS   Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M and
            Read AP.
  TITLE     Elastin: genomic structure and point mutations in patients with
            supravalvular aortic stenosis
  JOURNAL   Hum Mol Genet 6 (7), 1029-1036 (1997)
   PUBMED   9215671
REFERENCE   4  (residues 1 to 643)
  AUTHORS   Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF and Keating
            MT.
  TITLE     The elastin gene is disrupted by a translocation associated with
            supravalvular aortic stenosis
  JOURNAL   Cell 73 (1), 159-168 (1993)
   PUBMED   8096434
REFERENCE   5  (residues 1 to 643)
  AUTHORS   Callewaert,B.L. and Urban,Z.
  TITLE     ELN-Related Cutis Laxa
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36173875
REFERENCE   6  (residues 1 to 643)
  AUTHORS   Morris,C.A.
  TITLE     Williams Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301427
REFERENCE   7  (residues 1 to 643)
  AUTHORS   Wakui H, Komatsuda A, Itoh H, Kobayashi R, Nakamoto Y and Miura AB.
  TITLE     Renal argininosuccinate synthetase: purification,
            immunohistochemical localization, and elastin-binding property
  JOURNAL   Ren Physiol Biochem 15 (1), 1-9 (1992)
   PUBMED   1372742
REFERENCE   8  (residues 1 to 643)
  AUTHORS   Fazio MJ, Mattei MG, Passage E, Chu ML, Black D, Solomon E,
            Davidson JM and Uitto J.
  TITLE     Human elastin gene: new evidence for localization to the long arm
            of chromosome 7
  JOURNAL   Am J Hum Genet 48 (4), 696-703 (1991)
   PUBMED   2014796
REFERENCE   9  (residues 1 to 643)
  AUTHORS   Fazio MJ, Olsen DR, Kauh EA, Baldwin CT, Indik Z,
            Ornstein-Goldstein N, Yeh H, Rosenbloom J and Uitto J.
  TITLE     Cloning of full-length elastin cDNAs from a human skin fibroblast
            recombinant cDNA library: further elucidation of alternative
            splicing utilizing exon-specific oligonucleotides
  JOURNAL   J Invest Dermatol 91 (5), 458-464 (1988)
   PUBMED   3171221
REFERENCE   10 (residues 1 to 643)
  AUTHORS   Indik,Z., Yoon,K., Morrow,S.D., Cicila,G., Rosenbloom,J.,
            Rosenbloom,J. and Ornstein-Goldstein,N.
  TITLE     Structure of the 3' region of the human elastin gene: great
            abundance of Alu repetitive sequences and few coding sequences
  JOURNAL   Connect Tissue Res 16 (3), 197-211 (1987)
   PUBMED   3038460
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005056.2, AK075554.1 and
            AA600350.1.
            
            Summary: This gene encodes a protein that is one of the two
            components of elastic fibers. Elastic fibers comprise part of the
            extracellular matrix and confer elasticity to organs and tissues
            including the heart, skin, lungs, ligaments, and blood vessels. The
            encoded protein is rich in hydrophobic amino acids such as glycine
            and proline, which form mobile hydrophobic regions bounded by
            crosslinks between lysine residues. Degradation products of the
            encoded protein, known as elastin-derived peptides or elastokines,
            bind the elastin receptor complex and other receptors and stimulate
            migration and proliferation of monocytes and skin fibroblasts.
            Elastokines can also contribute to cancer progression. Deletions
            and mutations in this gene are associated with supravalvular aortic
            stenosis (SVAS) and autosomal dominant cutis laxa. [provided by
            RefSeq, Aug 2017].
            
            Transcript Variant: This variant (7) has multiple differences in
            the coding region but maintains the reading frame compared to
            variant 1. It encodes isoform g which is shorter compared to
            isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK075554.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146982, SAMEA2147920
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..643
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     Protein         1..643
                     /product="elastin isoform g precursor"
                     /note="tropoelastin"
                     /calculated_mol_wt=52996
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2665
     CDS             1..643
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /coded_by="NM_001278913.2:16..1947"
                     /note="isoform g precursor is encoded by transcript
                     variant 7"
                     /db_xref="CCDS:CCDS64676.1"
                     /db_xref="GeneID:2006"
                     /db_xref="HGNC:HGNC:3327"
                     /db_xref="MIM:130160"
ORIGIN      
        1 magltaaapr pgvlllllsi lhpsrpggvp gaipggvpgg vfypgaglga lgggalgpgg
       61 kplkpglgaf pavtfpgalv pggvadaaaa ykaakagagl ggvpgvgglg vsagavvpqp
      121 gagvkpgkvp gvglpgvypg gvlpgarfpg vgvlpgvptg agvkpkapgv gpfggpqpgv
      181 plgypikapk lpgygpggva gaagkagypt gtgvgpqaaa aaaakaaakf gagaagvlpg
      241 vggagvpgvp gaipgiggia gvgtpaaaaa aaaaakaaky gaaaglvpgg pgfgpgvvgv
      301 pgagvpgvgv pgagipvvpg agipgaavpg vvspeaaaka aakaakygar pgvgvggipt
      361 ygvgaggfpg fgvgvgaeaq aaaaakaaky glvpgvgvap gvgvapgvgv apgvglapgv
      421 gvapgvgvap gvgvapgigp ggvaaaaksa akvaakaqlr aaaglgagip glgvgvgvpg
      481 lgvgagvpgl gvgagvpgfg avpgalaaak aakygaavpg vlgglgalgg vgipggvvga
      541 gpaaaaaaak aaakaaqfgl vgaaglgglg vgglgvpgvg glggippaaa akaakygaag
      601 lggvlggagq fplggvaarp gfglspifpg gaclgkacgr krk
//